hpo_id	hpo_name	ncbi_gene_id	gene_symbol	disease_id
HP:6001052	Tibiotalar synostosis	8200	GDF5	OMIM:200700
HP:6001053	Vertebra plana	1277	COL1A1	OMIM:166200
HP:6001056	Out-toeing	7040	TGFB1	OMIM:131300
HP:6001057	Ankle dislocation	2317	FLNB	OMIM:108720
HP:6001062	Eosinophilic neuronal inclusion bodies	5274	SERPINI1	OMIM:604218
HP:6001063	Sweaty foot-like odor	3712	IVD	OMIM:243500
HP:6001064	Anti-acetylcholine receptor antibody positivity	5339	PLEC	ORPHA:254361
HP:6001064	Anti-acetylcholine receptor antibody positivity	1134	CHRNA1	OMIM:601462
HP:6001064	Anti-acetylcholine receptor antibody positivity	1134	CHRNA1	OMIM:608930
HP:6001064	Anti-acetylcholine receptor antibody positivity	6329	SCN4A	OMIM:614198
HP:6001064	Anti-acetylcholine receptor antibody positivity	5913	RAPSN	OMIM:616326
HP:6001064	Anti-acetylcholine receptor antibody positivity	199857	ALG14	OMIM:616227
HP:6001064	Anti-acetylcholine receptor antibody positivity	1103	CHAT	OMIM:254210
HP:6001064	Anti-acetylcholine receptor antibody positivity	1103	CHAT	ORPHA:98914
HP:6001064	Anti-acetylcholine receptor antibody positivity	4593	MUSK	OMIM:616325
HP:6001064	Anti-acetylcholine receptor antibody positivity	1140	CHRNB1	OMIM:616314
HP:6001064	Anti-acetylcholine receptor antibody positivity	1140	CHRNB1	OMIM:616313
HP:6001064	Anti-acetylcholine receptor antibody positivity	1145	CHRNE	OMIM:616324
HP:6001064	Anti-acetylcholine receptor antibody positivity	1144	CHRND	OMIM:616323
HP:6001064	Anti-acetylcholine receptor antibody positivity	9581	PREPL	OMIM:616224
HP:6001064	Anti-acetylcholine receptor antibody positivity	60482	SLC5A7	ORPHA:98914
HP:6001064	Anti-acetylcholine receptor antibody positivity	4649	MYO9A	ORPHA:98914
HP:6001064	Anti-acetylcholine receptor antibody positivity	1305	COL13A1	ORPHA:98914
HP:6001064	Anti-acetylcholine receptor antibody positivity	6576	SLC25A1	ORPHA:98914
HP:6001064	Anti-acetylcholine receptor antibody positivity	6843	VAMP1	ORPHA:98914
HP:6001064	Anti-acetylcholine receptor antibody positivity	375790	AGRN	ORPHA:98914
HP:6001064	Anti-acetylcholine receptor antibody positivity	127833	SYT2	ORPHA:98914
HP:6001064	Anti-acetylcholine receptor antibody positivity	6572	SLC18A3	ORPHA:98914
HP:6001064	Anti-acetylcholine receptor antibody positivity	6616	SNAP25	ORPHA:98914
HP:6001064	Anti-acetylcholine receptor antibody positivity	8292	COLQ	OMIM:603034
HP:6001064	Anti-acetylcholine receptor antibody positivity	285489	DOK7	OMIM:254300
HP:6001070	Subdural hygroma	57728	WDR19	OMIM:614378
HP:6001070	Subdural hygroma	7543	ZFX	OMIM:301118
HP:6001071	Incus ankylosis	56172	ANKH	OMIM:123000
HP:6001074	Longitudinal erythronychia	488	ATP2A2	OMIM:124200
HP:6001080	Reduced urine retrahydrocortisol plus 5-alpha-THF to tetrahydrocortisone ratio	3290	HSD11B1	OMIM:614662
HP:0034905	Elevated circulating uroporphyrin concentration	7390	UROS	OMIM:263700
HP:0034902	Abnormal circulating calcitonin concentration	5979	RET	OMIM:162300
HP:0034902	Abnormal circulating calcitonin concentration	5979	RET	ORPHA:29072
HP:0034902	Abnormal circulating calcitonin concentration	5979	RET	OMIM:171400
HP:0034902	Abnormal circulating calcitonin concentration	4221	MEN1	ORPHA:652
HP:0034902	Abnormal circulating calcitonin concentration	1027	CDKN1B	ORPHA:652
HP:0034902	Abnormal circulating calcitonin concentration	1026	CDKN1A	ORPHA:652
HP:0034902	Abnormal circulating calcitonin concentration	1030	CDKN2B	ORPHA:652
HP:0034902	Abnormal circulating calcitonin concentration	1031	CDKN2C	ORPHA:652
HP:0034902	Abnormal circulating calcitonin concentration	7428	VHL	ORPHA:29072
HP:0034902	Abnormal circulating calcitonin concentration	1743	DLST	ORPHA:29072
HP:0034902	Abnormal circulating calcitonin concentration	4191	MDH2	ORPHA:29072
HP:0034902	Abnormal circulating calcitonin concentration	6389	SDHA	ORPHA:29072
HP:0034902	Abnormal circulating calcitonin concentration	23095	KIF1B	ORPHA:29072
HP:0034902	Abnormal circulating calcitonin concentration	2271	FH	ORPHA:29072
HP:0034902	Abnormal circulating calcitonin concentration	8402	SLC25A11	ORPHA:29072
HP:0034902	Abnormal circulating calcitonin concentration	54949	SDHAF2	ORPHA:29072
HP:0034902	Abnormal circulating calcitonin concentration	55654	TMEM127	ORPHA:29072
HP:0034902	Abnormal circulating calcitonin concentration	4763	NF1	ORPHA:29072
HP:0034902	Abnormal circulating calcitonin concentration	6391	SDHC	ORPHA:29072
HP:0034902	Abnormal circulating calcitonin concentration	6392	SDHD	ORPHA:29072
HP:0034902	Abnormal circulating calcitonin concentration	6390	SDHB	ORPHA:29072
HP:0034902	Abnormal circulating calcitonin concentration	4149	MAX	ORPHA:29072
HP:0034902	Abnormal circulating calcitonin concentration	5573	PRKAR1A	OMIM:101800
HP:0034902	Abnormal circulating calcitonin concentration	2778	GNAS	ORPHA:79443
HP:6001098	Metaphyseal undermodelling	5352	PLOD2	OMIM:609220
HP:0034915	Abnormal anus morphology	64840	PORCN	OMIM:305600
HP:0034915	Abnormal anus morphology	10128	LRPPRC	OMIM:220111
HP:0034915	Abnormal anus morphology	9791	PTDSS1	OMIM:151050
HP:0034915	Abnormal anus morphology	5447	POR	OMIM:201750
HP:0034915	Abnormal anus morphology	5447	POR	ORPHA:95699
HP:0034915	Abnormal anus morphology	23512	SUZ12	OMIM:618786
HP:0034915	Abnormal anus morphology	222546	RFX6	OMIM:615710
HP:0034915	Abnormal anus morphology	1024	CDK8	OMIM:618748
HP:0034915	Abnormal anus morphology	29957	SLC25A24	OMIM:612289
HP:0034915	Abnormal anus morphology	6091	ROBO1	OMIM:620305
HP:0034915	Abnormal anus morphology	22800	RRAS2	OMIM:618624
HP:0034915	Abnormal anus morphology	1857	DVL3	OMIM:616894
HP:0034915	Abnormal anus morphology	8942	KYNU	OMIM:617661
HP:0034915	Abnormal anus morphology	28514	DLL1	ORPHA:280195
HP:0034915	Abnormal anus morphology	2253	FGF8	ORPHA:280195
HP:0034915	Abnormal anus morphology	6496	SIX3	ORPHA:280195
HP:0034915	Abnormal anus morphology	7050	TGIF1	ORPHA:280195
HP:0034915	Abnormal anus morphology	4838	NODAL	ORPHA:280195
HP:0034915	Abnormal anus morphology	6469	SHH	ORPHA:280195
HP:0034915	Abnormal anus morphology	7546	ZIC2	ORPHA:280195
HP:0034915	Abnormal anus morphology	6491	STIL	ORPHA:280195
HP:0034915	Abnormal anus morphology	2619	GAS1	ORPHA:280195
HP:0034915	Abnormal anus morphology	84976	DISP1	ORPHA:280195
HP:0034915	Abnormal anus morphology	2736	GLI2	ORPHA:280195
HP:0034915	Abnormal anus morphology	8928	FOXH1	ORPHA:280195
HP:0034915	Abnormal anus morphology	6997	CRIPTO	ORPHA:280195
HP:0034915	Abnormal anus morphology	5727	PTCH1	ORPHA:280195
HP:0034915	Abnormal anus morphology	50937	CDON	ORPHA:280195
HP:0034915	Abnormal anus morphology	1654	DDX3X	ORPHA:3338
HP:0034915	Abnormal anus morphology	55650	PIGV	OMIM:239300
HP:0034915	Abnormal anus morphology	55650	PIGV	ORPHA:247262
HP:0034915	Abnormal anus morphology	4784	NFIX	OMIM:602535
HP:0034915	Abnormal anus morphology	84992	PIGY	ORPHA:247262
HP:0034915	Abnormal anus morphology	93210	PGAP3	ORPHA:247262
HP:0034915	Abnormal anus morphology	284098	PIGW	ORPHA:247262
HP:0034915	Abnormal anus morphology	9487	PIGL	ORPHA:247262
HP:0034915	Abnormal anus morphology	4081	MAB21L1	ORPHA:495875
HP:0034915	Abnormal anus morphology	1108	CHD4	OMIM:617159
HP:0034915	Abnormal anus morphology	157570	ESCO2	ORPHA:2319
HP:0034915	Abnormal anus morphology	157570	ESCO2	OMIM:216100
HP:0034915	Abnormal anus morphology	37	ACADVL	ORPHA:26793
HP:0034915	Abnormal anus morphology	1656	DDX6	OMIM:618653
HP:0034915	Abnormal anus morphology	1822	ATN1	OMIM:618494
HP:0034915	Abnormal anus morphology	1642	DDB1	OMIM:619426
HP:0034915	Abnormal anus morphology	26005	C2CD3	OMIM:615948
HP:0034915	Abnormal anus morphology	26040	SETBP1	ORPHA:798
HP:0034915	Abnormal anus morphology	2737	GLI3	ORPHA:672
HP:0034915	Abnormal anus morphology	2737	GLI3	OMIM:146510
HP:0034915	Abnormal anus morphology	2737	GLI3	OMIM:175700
HP:0034915	Abnormal anus morphology	2737	GLI3	OMIM:174200
HP:0034915	Abnormal anus morphology	9361	LONP1	OMIM:600373
HP:0034915	Abnormal anus morphology	2294	FOXF1	OMIM:265380
HP:0034915	Abnormal anus morphology	2294	FOXF1	ORPHA:210122
HP:0034915	Abnormal anus morphology	341640	FREM2	ORPHA:2052
HP:0034915	Abnormal anus morphology	341640	FREM2	OMIM:617666
HP:0034915	Abnormal anus morphology	80144	FRAS1	ORPHA:2052
HP:0034915	Abnormal anus morphology	23426	GRIP1	ORPHA:2052
HP:0034915	Abnormal anus morphology	4683	NBN	OMIM:251260
HP:0034915	Abnormal anus morphology	4683	NBN	ORPHA:647
HP:0034915	Abnormal anus morphology	117581	TWIST2	OMIM:227260
HP:0034915	Abnormal anus morphology	117581	TWIST2	ORPHA:1807
HP:0034915	Abnormal anus morphology	23556	PIGN	ORPHA:2059
HP:0034915	Abnormal anus morphology	23556	PIGN	ORPHA:280633
HP:0034915	Abnormal anus morphology	23556	PIGN	OMIM:614080
HP:0034915	Abnormal anus morphology	8195	MKKS	OMIM:236700
HP:0034915	Abnormal anus morphology	8195	MKKS	ORPHA:2473
HP:0034915	Abnormal anus morphology	145173	B3GLCT	ORPHA:709
HP:0034915	Abnormal anus morphology	6650	CAPN15	OMIM:619318
HP:0034915	Abnormal anus morphology	253738	EBF3	ORPHA:96148
HP:0034915	Abnormal anus morphology	1131	CHRM3	ORPHA:2970
HP:0034915	Abnormal anus morphology	1131	CHRM3	OMIM:100100
HP:0034915	Abnormal anus morphology	57167	SALL4	OMIM:607323
HP:0034915	Abnormal anus morphology	57167	SALL4	ORPHA:2307
HP:0034915	Abnormal anus morphology	57167	SALL4	OMIM:147750
HP:0034915	Abnormal anus morphology	7473	WNT3	ORPHA:3301
HP:0034915	Abnormal anus morphology	7473	WNT3	OMIM:273395
HP:0034915	Abnormal anus morphology	340419	RSPO2	ORPHA:3301
HP:0034915	Abnormal anus morphology	9496	TBX4	ORPHA:3301
HP:0034915	Abnormal anus morphology	81839	VANGL1	ORPHA:3027
HP:0034915	Abnormal anus morphology	80199	FUZ	ORPHA:3027
HP:0034915	Abnormal anus morphology	10084	PQBP1	ORPHA:93950
HP:0034915	Abnormal anus morphology	10084	PQBP1	OMIM:309500
HP:0034915	Abnormal anus morphology	197131	UBR1	OMIM:243800
HP:0034915	Abnormal anus morphology	197131	UBR1	ORPHA:2315
HP:0034915	Abnormal anus morphology	6299	SALL1	OMIM:107480
HP:0034915	Abnormal anus morphology	6299	SALL1	ORPHA:857
HP:0034915	Abnormal anus morphology	267010	RNU12	OMIM:603116
HP:0034915	Abnormal anus morphology	267010	RNU12	ORPHA:85199
HP:0034915	Abnormal anus morphology	55112	DYNC2I1	ORPHA:93271
HP:0034915	Abnormal anus morphology	57560	IFT80	ORPHA:93271
HP:0034915	Abnormal anus morphology	57539	WDR35	ORPHA:93271
HP:0034915	Abnormal anus morphology	79659	DYNC2H1	ORPHA:93271
HP:0034915	Abnormal anus morphology	79659	DYNC2H1	OMIM:613091
HP:0034915	Abnormal anus morphology	89891	DYNC2I2	ORPHA:93271
HP:0034915	Abnormal anus morphology	4281	MID1	OMIM:300000
HP:0034915	Abnormal anus morphology	4281	MID1	ORPHA:2745
HP:0034915	Abnormal anus morphology	374654	KIF7	OMIM:200990
HP:0034915	Abnormal anus morphology	3313	HSPA9	OMIM:616854
HP:0034915	Abnormal anus morphology	2137	EXTL3	OMIM:617425
HP:0034915	Abnormal anus morphology	999	CDH1	OMIM:119580
HP:0034915	Abnormal anus morphology	999	CDH1	ORPHA:1997
HP:0034915	Abnormal anus morphology	29954	POMT2	OMIM:236670
HP:0034915	Abnormal anus morphology	79147	FKRP	OMIM:236670
HP:0034915	Abnormal anus morphology	2218	FKTN	OMIM:236670
HP:0034915	Abnormal anus morphology	10585	POMT1	OMIM:236670
HP:0034915	Abnormal anus morphology	9215	LARGE1	OMIM:236670
HP:0034915	Abnormal anus morphology	2187	FANCB	ORPHA:3412
HP:0034915	Abnormal anus morphology	2187	FANCB	ORPHA:84
HP:0034915	Abnormal anus morphology	2187	FANCB	OMIM:314390
HP:0034915	Abnormal anus morphology	1500	CTNND1	ORPHA:1997
HP:0034915	Abnormal anus morphology	6926	TBX3	ORPHA:3138
HP:0034915	Abnormal anus morphology	6926	TBX3	OMIM:181450
HP:0034915	Abnormal anus morphology	7547	ZIC3	OMIM:306955
HP:0034915	Abnormal anus morphology	7547	ZIC3	OMIM:314390
HP:0034915	Abnormal anus morphology	4072	EPCAM	ORPHA:92050
HP:0034915	Abnormal anus morphology	105371045	PERCC1	ORPHA:92050
HP:0034915	Abnormal anus morphology	2263	FGFR2	ORPHA:93260
HP:0034915	Abnormal anus morphology	2263	FGFR2	ORPHA:93259
HP:0034915	Abnormal anus morphology	83871	RAB34	OMIM:620718
HP:0034915	Abnormal anus morphology	9401	RECQL4	ORPHA:1225
HP:0034915	Abnormal anus morphology	9401	RECQL4	OMIM:218600
HP:0034915	Abnormal anus morphology	23522	KAT6B	OMIM:606170
HP:0034915	Abnormal anus morphology	9968	MED12	ORPHA:93932
HP:0034915	Abnormal anus morphology	9968	MED12	OMIM:305450
HP:0034915	Abnormal anus morphology	5308	PITX2	OMIM:180500
HP:0034915	Abnormal anus morphology	672	BRCA1	ORPHA:84
HP:0034915	Abnormal anus morphology	10459	MAD2L2	ORPHA:84
HP:0034915	Abnormal anus morphology	7516	XRCC2	ORPHA:84
HP:0034915	Abnormal anus morphology	29089	UBE2T	ORPHA:84
HP:0034915	Abnormal anus morphology	675	BRCA2	ORPHA:84
HP:0034915	Abnormal anus morphology	675	BRCA2	OMIM:605724
HP:0034915	Abnormal anus morphology	55120	FANCL	ORPHA:84
HP:0034915	Abnormal anus morphology	55120	FANCL	OMIM:614083
HP:0034915	Abnormal anus morphology	2177	FANCD2	ORPHA:84
HP:0034915	Abnormal anus morphology	2175	FANCA	ORPHA:84
HP:0034915	Abnormal anus morphology	2176	FANCC	ORPHA:84
HP:0034915	Abnormal anus morphology	2178	FANCE	ORPHA:84
HP:0034915	Abnormal anus morphology	2188	FANCF	ORPHA:84
HP:0034915	Abnormal anus morphology	2189	FANCG	ORPHA:84
HP:0034915	Abnormal anus morphology	5888	RAD51	ORPHA:84
HP:0034915	Abnormal anus morphology	5888	RAD51	OMIM:617244
HP:0034915	Abnormal anus morphology	5889	RAD51C	ORPHA:84
HP:0034915	Abnormal anus morphology	5889	RAD51C	OMIM:613390
HP:0034915	Abnormal anus morphology	55159	RFWD3	ORPHA:84
HP:0034915	Abnormal anus morphology	83990	BRIP1	ORPHA:84
HP:0034915	Abnormal anus morphology	57697	FANCM	ORPHA:84
HP:0034915	Abnormal anus morphology	79728	PALB2	ORPHA:84
HP:0034915	Abnormal anus morphology	79728	PALB2	OMIM:610832
HP:0034915	Abnormal anus morphology	84464	SLX4	ORPHA:84
HP:0034915	Abnormal anus morphology	2072	ERCC4	ORPHA:84
HP:0034915	Abnormal anus morphology	55215	FANCI	ORPHA:84
HP:0034915	Abnormal anus morphology	1312	COMT	ORPHA:567
HP:0034915	Abnormal anus morphology	221037	JMJD1C	ORPHA:567
HP:0034915	Abnormal anus morphology	2812	GP1BB	ORPHA:567
HP:0034915	Abnormal anus morphology	6239	RREB1	ORPHA:567
HP:0034915	Abnormal anus morphology	6899	TBX1	ORPHA:567
HP:0034915	Abnormal anus morphology	7290	HIRA	ORPHA:567
HP:0034915	Abnormal anus morphology	9632	SEC24C	ORPHA:567
HP:0034915	Abnormal anus morphology	7353	UFD1	ORPHA:567
HP:0034915	Abnormal anus morphology	421	ARVCF	ORPHA:567
HP:0034915	Abnormal anus morphology	25942	SIN3A	ORPHA:94065
HP:0034915	Abnormal anus morphology	25	ABL1	OMIM:617602
HP:0034915	Abnormal anus morphology	23065	EMC1	OMIM:616875
HP:0034915	Abnormal anus morphology	23065	EMC1	ORPHA:480898
HP:0034915	Abnormal anus morphology	55012	PPP2R3C	OMIM:618419
HP:0034915	Abnormal anus morphology	23495	TNFRSF13B	ORPHA:1572
HP:0034915	Abnormal anus morphology	4790	NFKB1	ORPHA:1572
HP:0034915	Abnormal anus morphology	4791	NFKB2	ORPHA:1572
HP:0034915	Abnormal anus morphology	115650	TNFRSF13C	ORPHA:1572
HP:0034915	Abnormal anus morphology	1380	CR2	ORPHA:1572
HP:0034915	Abnormal anus morphology	8742	TNFSF12	ORPHA:1572
HP:0034915	Abnormal anus morphology	930	CD19	ORPHA:1572
HP:0034915	Abnormal anus morphology	29851	ICOS	ORPHA:1572
HP:0034915	Abnormal anus morphology	931	MS4A1	ORPHA:1572
HP:0034915	Abnormal anus morphology	975	CD81	ORPHA:1572
HP:0034915	Abnormal anus morphology	359948	IRF2BP2	ORPHA:1572
HP:0034915	Abnormal anus morphology	55636	CHD7	OMIM:214800
HP:0034915	Abnormal anus morphology	10046	MAMLD1	ORPHA:95706
HP:0034915	Abnormal anus morphology	367	AR	ORPHA:95706
HP:0034915	Abnormal anus morphology	11193	WBP4	OMIM:620852
HP:0034915	Abnormal anus morphology	8642	DCHS1	OMIM:601390
HP:0034915	Abnormal anus morphology	6862	TBXT	OMIM:615709
HP:0034915	Abnormal anus morphology	4613	MYCN	ORPHA:391641
HP:0034915	Abnormal anus morphology	54880	BCOR	OMIM:309800
HP:0034915	Abnormal anus morphology	8260	NAA10	OMIM:309800
HP:0034915	Abnormal anus morphology	54539	NDUFB11	OMIM:309801
HP:0034915	Abnormal anus morphology	1349	COX7B	OMIM:309801
HP:0034915	Abnormal anus morphology	3052	HCCS	OMIM:309801
HP:0034915	Abnormal anus morphology	55773	TBC1D23	OMIM:617695
HP:0034915	Abnormal anus morphology	92002	CCNQ	OMIM:300707
HP:0034915	Abnormal anus morphology	92002	CCNQ	ORPHA:140952
HP:0034915	Abnormal anus morphology	8239	USP9X	ORPHA:480880
HP:0034915	Abnormal anus morphology	8239	USP9X	OMIM:300968
HP:0034915	Abnormal anus morphology	84720	PIGO	OMIM:614749
HP:0034915	Abnormal anus morphology	10653	SPINT2	OMIM:270420
HP:0034915	Abnormal anus morphology	79228	THOC6	ORPHA:363444
HP:0034915	Abnormal anus morphology	79813	EHMT1	ORPHA:261652
HP:0034915	Abnormal anus morphology	58508	KMT2C	ORPHA:261652
HP:0034915	Abnormal anus morphology	8318	CDC45	OMIM:617063
HP:0034915	Abnormal anus morphology	51339	DACT1	OMIM:617466
HP:0034915	Abnormal anus morphology	51339	DACT1	ORPHA:857
HP:0034915	Abnormal anus morphology	51339	DACT1	ORPHA:63260
HP:0034915	Abnormal anus morphology	79803	HPS6	OMIM:614075
HP:0034915	Abnormal anus morphology	23112	TNRC6B	OMIM:619243
HP:0034915	Abnormal anus morphology	3110	MNX1	ORPHA:1552
HP:0034915	Abnormal anus morphology	3110	MNX1	OMIM:176450
HP:0034915	Abnormal anus morphology	57466	SCAF4	OMIM:620511
HP:0034915	Abnormal anus morphology	7291	TWIST1	OMIM:617746
HP:0034915	Abnormal anus morphology	139285	AMER1	OMIM:300373
HP:0034915	Abnormal anus morphology	9897	WASHC5	OMIM:220210
HP:0034915	Abnormal anus morphology	9897	WASHC5	ORPHA:7
HP:0034915	Abnormal anus morphology	153241	CEP120	OMIM:616300
HP:0034915	Abnormal anus morphology	7476	WNT7A	ORPHA:2879
HP:0034915	Abnormal anus morphology	25836	NIPBL	OMIM:122470
HP:0034915	Abnormal anus morphology	1807	DPYS	OMIM:222748
HP:0034915	Abnormal anus morphology	26123	TCTN3	ORPHA:2753
HP:0034915	Abnormal anus morphology	3239	HOXD13	ORPHA:887
HP:0034915	Abnormal anus morphology	28952	CCDC22	ORPHA:7
HP:0034915	Abnormal anus morphology	57020	VPS35L	ORPHA:7
HP:0034915	Abnormal anus morphology	56896	DPYSL5	ORPHA:7
HP:0034915	Abnormal anus morphology	51733	UPB1	OMIM:613161
HP:0034915	Abnormal anus morphology	54903	MKS1	OMIM:249000
HP:0034915	Abnormal anus morphology	54101	RIPK4	OMIM:263650
HP:0034915	Abnormal anus morphology	9573	GDF3	ORPHA:2345
HP:0034915	Abnormal anus morphology	392255	GDF6	ORPHA:2345
HP:0034915	Abnormal anus morphology	4222	MEOX1	ORPHA:2345
HP:0034915	Abnormal anus morphology	27152	INTU	OMIM:617925
HP:0034915	Abnormal anus morphology	2719	GPC3	OMIM:312870
HP:0034915	Abnormal anus morphology	2239	GPC4	OMIM:312870
HP:0034915	Abnormal anus morphology	8085	KMT2D	OMIM:147920
HP:0034915	Abnormal anus morphology	7403	KDM6A	OMIM:147920
HP:0034915	Abnormal anus morphology	3981	LIG4	ORPHA:235
HP:0034915	Abnormal anus morphology	54888	NSUN2	ORPHA:235
HP:0034915	Abnormal anus morphology	6628	SNRPB	OMIM:117650
HP:0034915	Abnormal anus morphology	6608	SMO	OMIM:601707
HP:0034915	Abnormal anus morphology	6023	RMRP	OMIM:250250
HP:0034915	Abnormal anus morphology	775	CACNA1C	OMIM:620029
HP:0034915	Abnormal anus morphology	27315	PGAP2	OMIM:614207
HP:0034915	Abnormal anus morphology	158326	FREM1	ORPHA:2717
HP:0034915	Abnormal anus morphology	158326	FREM1	ORPHA:217266
HP:0034915	Abnormal anus morphology	158326	FREM1	OMIM:248450
HP:0034915	Abnormal anus morphology	8626	TP63	OMIM:604292
HP:0034915	Abnormal anus morphology	1009	CDH11	OMIM:211380
HP:0034915	Abnormal anus morphology	2296	FOXC1	ORPHA:782
HP:0034915	Abnormal anus morphology	84667	HES7	OMIM:613686
HP:0034915	Abnormal anus morphology	55612	FERMT1	OMIM:173650
HP:0034915	Abnormal anus morphology	79633	FAT4	ORPHA:314679
HP:0034915	Abnormal anus morphology	64359	NXN	ORPHA:1507
HP:0034915	Abnormal anus morphology	4920	ROR2	ORPHA:1507
HP:0034915	Abnormal anus morphology	2313	FLI1	ORPHA:2308
HP:0034915	Abnormal anus morphology	6850	SYK	OMIM:619381
HP:0034915	Abnormal anus morphology	4689	NCF4	OMIM:613960
HP:0034915	Abnormal anus morphology	917	CD3G	OMIM:615607
HP:0034915	Abnormal anus morphology	5317	PKP1	ORPHA:158668
HP:0034915	Abnormal anus morphology	2000	ELF4	OMIM:301074
HP:0034915	Abnormal anus morphology	7040	TGFB1	OMIM:618213
HP:0034915	Abnormal anus morphology	4688	NCF2	OMIM:233710
HP:0034915	Abnormal anus morphology	79415	CYBC1	OMIM:618935
HP:0034915	Abnormal anus morphology	92579	G6PC3	OMIM:612541
HP:0034915	Abnormal anus morphology	3587	IL10RA	OMIM:613148
HP:0034915	Abnormal anus morphology	22806	IKZF3	OMIM:619437
HP:0034915	Abnormal anus morphology	4149	MAX	OMIM:620712
HP:0034915	Abnormal anus morphology	3588	IL10RB	OMIM:612567
HP:0034915	Abnormal anus morphology	8737	RIPK1	OMIM:618108
HP:0034915	Abnormal anus morphology	29927	SEC61A1	OMIM:620674
HP:0034915	Abnormal anus morphology	1991	ELANE	ORPHA:2686
HP:0034915	Abnormal anus morphology	6868	ADAM17	ORPHA:294023
HP:0034915	Abnormal anus morphology	1956	EGFR	ORPHA:294023
HP:0034915	Abnormal anus morphology	50619	DEF6	OMIM:619573
HP:0034915	Abnormal anus morphology	4312	MMP1	ORPHA:79408
HP:0034915	Abnormal anus morphology	1294	COL7A1	ORPHA:79408
HP:0034915	Abnormal anus morphology	1294	COL7A1	ORPHA:89842
HP:0034914	Oocyte maturation arrest	197135	PATL2	OMIM:617743
HP:0034914	Oocyte maturation arrest	197135	PATL2	ORPHA:488191
HP:0034914	Oocyte maturation arrest	347688	TUBB8	OMIM:616780
HP:0034914	Oocyte maturation arrest	347688	TUBB8	ORPHA:488191
HP:0034914	Oocyte maturation arrest	9319	TRIP13	OMIM:619011
HP:0034914	Oocyte maturation arrest	24145	PANX1	ORPHA:488191
HP:0034914	Oocyte maturation arrest	494551	WEE2	ORPHA:488191
HP:0034914	Oocyte maturation arrest	991	CDC20	OMIM:620276
HP:0034919	Reduced liver 2,4-dienoyl-CoA reductase activity	133686	NADK2	OMIM:616034
HP:0034918	Reduced muscle 2,4-dienoyl-CoA reductase activity	133686	NADK2	OMIM:616034
HP:0034913	Acrosomal hypoplasia	10881	ACTL7A	OMIM:620499
HP:0034913	Acrosomal hypoplasia	64518	TEKT3	OMIM:620277
HP:0034924	Abnormal dermis morphology	25939	SAMHD1	OMIM:614415
HP:0034924	Abnormal dermis morphology	1893	ECM1	OMIM:247100
HP:0034930	Digestive system neoplasm	435	ASL	ORPHA:23
HP:0034930	Digestive system neoplasm	695	BTK	OMIM:300755
HP:0034930	Digestive system neoplasm	5265	SERPINA1	OMIM:613490
HP:0034930	Digestive system neoplasm	5265	SERPINA1	ORPHA:60
HP:0034930	Digestive system neoplasm	3043	HBB	ORPHA:231214
HP:0034930	Digestive system neoplasm	3043	HBB	ORPHA:231222
HP:0034930	Digestive system neoplasm	3043	HBB	ORPHA:231226
HP:0034930	Digestive system neoplasm	83932	SPRTN	OMIM:616200
HP:0034930	Digestive system neoplasm	9414	TJP2	OMIM:615878
HP:0034930	Digestive system neoplasm	2542	SLC37A4	OMIM:232220
HP:0034930	Digestive system neoplasm	2542	SLC37A4	ORPHA:79259
HP:0034930	Digestive system neoplasm	2542	SLC37A4	OMIM:232240
HP:0034930	Digestive system neoplasm	2153	F5	OMIM:600880
HP:0034930	Digestive system neoplasm	3717	JAK2	OMIM:600880
HP:0034930	Digestive system neoplasm	3594	IL12RB1	ORPHA:186
HP:0034930	Digestive system neoplasm	23534	TNPO3	ORPHA:186
HP:0034930	Digestive system neoplasm	3592	IL12A	ORPHA:186
HP:0034930	Digestive system neoplasm	6689	SPIB	ORPHA:186
HP:0034930	Digestive system neoplasm	5450	POU2AF1	ORPHA:186
HP:0034930	Digestive system neoplasm	9966	TNFSF15	ORPHA:186
HP:0034930	Digestive system neoplasm	79258	MMEL1	ORPHA:186
HP:0034930	Digestive system neoplasm	3663	IRF5	ORPHA:186
HP:0034930	Digestive system neoplasm	182	JAG1	OMIM:118450
HP:0034930	Digestive system neoplasm	6514	SLC2A2	ORPHA:2088
HP:0034930	Digestive system neoplasm	3145	HMBS	OMIM:176000
HP:0034930	Digestive system neoplasm	3145	HMBS	ORPHA:79276
HP:0034930	Digestive system neoplasm	540	ATP7B	OMIM:277900
HP:0034930	Digestive system neoplasm	10165	SLC25A13	OMIM:603471
HP:0034930	Digestive system neoplasm	10165	SLC25A13	ORPHA:247585
HP:0034930	Digestive system neoplasm	8647	ABCB11	OMIM:601847
HP:0034930	Digestive system neoplasm	2859	GPR35	ORPHA:171
HP:0034930	Digestive system neoplasm	10507	SEMA4D	ORPHA:171
HP:0034930	Digestive system neoplasm	4485	MST1	ORPHA:171
HP:0034930	Digestive system neoplasm	6925	TCF4	ORPHA:171
HP:0034930	Digestive system neoplasm	2538	G6PC1	OMIM:232200
HP:0034930	Digestive system neoplasm	4358	MPV17	OMIM:256810
HP:0034930	Digestive system neoplasm	654	BMP6	ORPHA:465508
HP:0034930	Digestive system neoplasm	3077	HFE	ORPHA:465508
HP:0034930	Digestive system neoplasm	3077	HFE	OMIM:235200
HP:0034930	Digestive system neoplasm	5257	PHKB	ORPHA:79240
HP:0034930	Digestive system neoplasm	2184	FAH	OMIM:276700
HP:0034930	Digestive system neoplasm	2184	FAH	ORPHA:882
HP:0034930	Digestive system neoplasm	3481	IGF2	OMIM:180860
HP:0034930	Digestive system neoplasm	5836	PYGL	ORPHA:369
HP:0034930	Digestive system neoplasm	191	AHCY	ORPHA:88618
HP:0034930	Digestive system neoplasm	4233	MET	OMIM:114550
HP:0034930	Digestive system neoplasm	8312	AXIN1	OMIM:114550
HP:0034930	Digestive system neoplasm	3482	IGF2R	OMIM:114550
HP:0034930	Digestive system neoplasm	841	CASP8	OMIM:114550
HP:0034930	Digestive system neoplasm	55340	GIMAP5	OMIM:619463
HP:0034930	Digestive system neoplasm	7289	TULP3	OMIM:619902
HP:0034930	Digestive system neoplasm	1371	CPOX	ORPHA:79273
HP:0034930	Digestive system neoplasm	7389	UROD	OMIM:176100
HP:0034930	Digestive system neoplasm	5498	PPOX	ORPHA:79473
HP:0034930	Digestive system neoplasm	650	BMP2	OMIM:235200
HP:0034930	Digestive system neoplasm	63895	PIEZO2	OMIM:248700
HP:0034930	Digestive system neoplasm	546	ATRX	ORPHA:100075
HP:0034930	Digestive system neoplasm	7528	YY1	ORPHA:97279
HP:0034930	Digestive system neoplasm	2239	GPC4	ORPHA:373
HP:0034930	Digestive system neoplasm	2239	GPC4	OMIM:312870
HP:0034930	Digestive system neoplasm	1028	CDKN1C	OMIM:130650
HP:0034930	Digestive system neoplasm	3784	KCNQ1	OMIM:130650
HP:0034930	Digestive system neoplasm	10984	KCNQ1OT1	OMIM:130650
HP:0034930	Digestive system neoplasm	9652	SKIC3	ORPHA:84064
HP:0034930	Digestive system neoplasm	6499	SKIC2	ORPHA:84064
HP:0034930	Digestive system neoplasm	6597	SMARCA4	ORPHA:1465
HP:0034930	Digestive system neoplasm	6659	SOX4	ORPHA:1465
HP:0034930	Digestive system neoplasm	8289	ARID1A	ORPHA:1465
HP:0034930	Digestive system neoplasm	5977	DPF2	ORPHA:1465
HP:0034930	Digestive system neoplasm	6601	SMARCC2	ORPHA:1465
HP:0034930	Digestive system neoplasm	6602	SMARCD1	ORPHA:1465
HP:0034930	Digestive system neoplasm	57492	ARID1B	ORPHA:1465
HP:0034930	Digestive system neoplasm	196528	ARID2	ORPHA:1465
HP:0034930	Digestive system neoplasm	6664	SOX11	ORPHA:1465
HP:0034930	Digestive system neoplasm	26040	SETBP1	OMIM:269150
HP:0034930	Digestive system neoplasm	26040	SETBP1	ORPHA:798
HP:0034930	Digestive system neoplasm	388015	RTL1	ORPHA:96334
HP:0034930	Digestive system neoplasm	8788	DLK1	ORPHA:96334
HP:0034930	Digestive system neoplasm	55384	MEG3	ORPHA:96334
HP:0034930	Digestive system neoplasm	199221	DZIP1L	ORPHA:731
HP:0034930	Digestive system neoplasm	5314	PKHD1	ORPHA:731
HP:0034930	Digestive system neoplasm	7428	VHL	ORPHA:892
HP:0034930	Digestive system neoplasm	7428	VHL	OMIM:193300
HP:0034930	Digestive system neoplasm	595	CCND1	ORPHA:892
HP:0034930	Digestive system neoplasm	595	CCND1	OMIM:193300
HP:0034930	Digestive system neoplasm	4221	MEN1	ORPHA:652
HP:0034930	Digestive system neoplasm	1027	CDKN1B	ORPHA:652
HP:0034930	Digestive system neoplasm	1026	CDKN1A	ORPHA:652
HP:0034930	Digestive system neoplasm	1030	CDKN2B	ORPHA:652
HP:0034930	Digestive system neoplasm	1030	CDKN2B	ORPHA:618
HP:0034930	Digestive system neoplasm	1031	CDKN2C	ORPHA:652
HP:0034930	Digestive system neoplasm	4854	NOTCH3	ORPHA:2591
HP:0034930	Digestive system neoplasm	5159	PDGFRB	ORPHA:2591
HP:0034930	Digestive system neoplasm	91	ACVR1B	OMIM:260350
HP:0034930	Digestive system neoplasm	3845	KRAS	OMIM:260350
HP:0034930	Digestive system neoplasm	3845	KRAS	ORPHA:144
HP:0034930	Digestive system neoplasm	4089	SMAD4	OMIM:260350
HP:0034930	Digestive system neoplasm	6794	STK11	OMIM:260350
HP:0034930	Digestive system neoplasm	6794	STK11	OMIM:175200
HP:0034930	Digestive system neoplasm	7157	TP53	OMIM:260350
HP:0034930	Digestive system neoplasm	7157	TP53	OMIM:151623
HP:0034930	Digestive system neoplasm	7157	TP53	ORPHA:524
HP:0034930	Digestive system neoplasm	7157	TP53	ORPHA:145
HP:0034930	Digestive system neoplasm	324	APC	ORPHA:247806
HP:0034930	Digestive system neoplasm	324	APC	ORPHA:79665
HP:0034930	Digestive system neoplasm	1029	CDKN2A	ORPHA:524
HP:0034930	Digestive system neoplasm	1029	CDKN2A	ORPHA:618
HP:0034930	Digestive system neoplasm	4193	MDM2	ORPHA:524
HP:0034930	Digestive system neoplasm	11200	CHEK2	ORPHA:524
HP:0034930	Digestive system neoplasm	11200	CHEK2	ORPHA:145
HP:0034930	Digestive system neoplasm	11200	CHEK2	ORPHA:440437
HP:0034930	Digestive system neoplasm	672	BRCA1	ORPHA:145
HP:0034930	Digestive system neoplasm	5892	RAD51D	ORPHA:145
HP:0034930	Digestive system neoplasm	675	BRCA2	ORPHA:145
HP:0034930	Digestive system neoplasm	675	BRCA2	ORPHA:440437
HP:0034930	Digestive system neoplasm	675	BRCA2	OMIM:613347
HP:0034930	Digestive system neoplasm	5728	PTEN	ORPHA:145
HP:0034930	Digestive system neoplasm	10111	RAD50	ORPHA:145
HP:0034930	Digestive system neoplasm	580	BARD1	ORPHA:145
HP:0034930	Digestive system neoplasm	5888	RAD51	ORPHA:145
HP:0034930	Digestive system neoplasm	4683	NBN	ORPHA:145
HP:0034930	Digestive system neoplasm	5889	RAD51C	ORPHA:145
HP:0034930	Digestive system neoplasm	83990	BRIP1	ORPHA:145
HP:0034930	Digestive system neoplasm	4361	MRE11	ORPHA:145
HP:0034930	Digestive system neoplasm	79728	PALB2	ORPHA:145
HP:0034930	Digestive system neoplasm	4072	EPCAM	ORPHA:144
HP:0034930	Digestive system neoplasm	4292	MLH1	ORPHA:144
HP:0034930	Digestive system neoplasm	5395	PMS2	ORPHA:144
HP:0034930	Digestive system neoplasm	7048	TGFBR2	ORPHA:144
HP:0034930	Digestive system neoplasm	5290	PIK3CA	ORPHA:144
HP:0034930	Digestive system neoplasm	2956	MSH6	ORPHA:144
HP:0034930	Digestive system neoplasm	2956	MSH6	OMIM:614350
HP:0034930	Digestive system neoplasm	5378	PMS1	ORPHA:144
HP:0034930	Digestive system neoplasm	4436	MSH2	ORPHA:144
HP:0034930	Digestive system neoplasm	2642	GCGR	ORPHA:438274
HP:0034930	Digestive system neoplasm	2130	EWSR1	ORPHA:83469
HP:0034930	Digestive system neoplasm	7490	WT1	ORPHA:83469
HP:0034930	Digestive system neoplasm	80169	CTC1	ORPHA:1775
HP:0034930	Digestive system neoplasm	26277	TINF2	ORPHA:1775
HP:0034930	Digestive system neoplasm	55651	NHP2	ORPHA:1775
HP:0034930	Digestive system neoplasm	79650	USB1	ORPHA:1775
HP:0034930	Digestive system neoplasm	55135	WRAP53	ORPHA:1775
HP:0034930	Digestive system neoplasm	51750	RTEL1	ORPHA:1775
HP:0034930	Digestive system neoplasm	4869	NPM1	ORPHA:1775
HP:0034930	Digestive system neoplasm	7012	TERC	ORPHA:1775
HP:0034930	Digestive system neoplasm	55505	NOP10	ORPHA:1775
HP:0034930	Digestive system neoplasm	5073	PARN	ORPHA:1775
HP:0034930	Digestive system neoplasm	7015	TERT	ORPHA:1775
HP:0034930	Digestive system neoplasm	7015	TERT	ORPHA:618
HP:0034930	Digestive system neoplasm	1736	DKC1	ORPHA:1775
HP:0034930	Digestive system neoplasm	7298	TYMS	ORPHA:1775
HP:0034930	Digestive system neoplasm	64218	SEMA4A	ORPHA:440437
HP:0034930	Digestive system neoplasm	472	ATM	ORPHA:440437
HP:0034930	Digestive system neoplasm	5426	POLE	ORPHA:440437
HP:0034930	Digestive system neoplasm	657	BMPR1A	ORPHA:440437
HP:0034930	Digestive system neoplasm	6224	RPS20	ORPHA:440437
HP:0034930	Digestive system neoplasm	4595	MUTYH	ORPHA:440437
HP:0034930	Digestive system neoplasm	5424	POLD1	ORPHA:440437
HP:0034930	Digestive system neoplasm	8314	BAP1	ORPHA:618
HP:0034930	Digestive system neoplasm	4286	MITF	ORPHA:618
HP:0034930	Digestive system neoplasm	1019	CDK4	ORPHA:618
HP:0034930	Digestive system neoplasm	4255	MGMT	ORPHA:618
HP:0034930	Digestive system neoplasm	54386	TERF2IP	ORPHA:618
HP:0034930	Digestive system neoplasm	4157	MC1R	ORPHA:618
HP:0034930	Digestive system neoplasm	65057	ACD	ORPHA:618
HP:0034930	Digestive system neoplasm	25913	POT1	ORPHA:618
HP:0034930	Digestive system neoplasm	1188	CLCNKB	ORPHA:358
HP:0034930	Digestive system neoplasm	6559	SLC12A3	ORPHA:358
HP:0034930	Digestive system neoplasm	6690	SPINK1	OMIM:608189
HP:0034930	Digestive system neoplasm	2313	FLI1	ORPHA:370348
HP:0034930	Digestive system neoplasm	5573	PRKAR1A	ORPHA:1359
HP:0034930	Digestive system neoplasm	50940	PDE11A	ORPHA:1359
HP:0034930	Digestive system neoplasm	6609	SMPD1	ORPHA:77293
HP:0034930	Digestive system neoplasm	5244	ABCB4	ORPHA:69663
HP:0034930	Digestive system neoplasm	65998	ZFTA	ORPHA:251636
HP:0034930	Digestive system neoplasm	4665	NAB2	ORPHA:2126
HP:0034930	Digestive system neoplasm	6778	STAT6	ORPHA:2126
HP:0034930	Digestive system neoplasm	56623	INPP5E	ORPHA:1454
HP:0034930	Digestive system neoplasm	91147	TMEM67	ORPHA:1454
HP:0034930	Digestive system neoplasm	23322	RPGRIP1L	ORPHA:1454
HP:0034930	Digestive system neoplasm	57545	CC2D2A	ORPHA:1454
HP:0034930	Digestive system neoplasm	5978	REST	ORPHA:654
HP:0034930	Digestive system neoplasm	129563	DIS3L2	ORPHA:654
HP:0034930	Digestive system neoplasm	9319	TRIP13	ORPHA:654
HP:0034930	Digestive system neoplasm	10155	TRIM28	ORPHA:654
HP:0034930	Digestive system neoplasm	11281	POU6F2	ORPHA:654
HP:0034930	Digestive system neoplasm	2719	GPC3	ORPHA:654
HP:0034930	Digestive system neoplasm	283120	H19	ORPHA:654
HP:0034930	Digestive system neoplasm	716	C1S	OMIM:617174
HP:0034930	Digestive system neoplasm	8930	MBD4	OMIM:619975
HP:0034930	Digestive system neoplasm	4092	SMAD7	OMIM:612229
HP:0034930	Digestive system neoplasm	2304	FOXE1	ORPHA:319487
HP:0034930	Digestive system neoplasm	3026	HABP2	ORPHA:319487
HP:0034930	Digestive system neoplasm	9562	MINPP1	ORPHA:319487
HP:0034930	Digestive system neoplasm	10483	SEC23B	ORPHA:201
HP:0034930	Digestive system neoplasm	205717	USF3	ORPHA:201
HP:0034930	Digestive system neoplasm	100144748	KLLN	ORPHA:201
HP:0034930	Digestive system neoplasm	11277	TREX1	OMIM:225750
HP:0034930	Digestive system neoplasm	4437	MSH3	ORPHA:480536
HP:0034930	Digestive system neoplasm	5727	PTCH1	OMIM:109400
HP:0034930	Digestive system neoplasm	488	ATP2A2	ORPHA:218
HP:0034930	Digestive system neoplasm	2475	MTOR	ORPHA:457485
HP:0034930	Digestive system neoplasm	83550	GPR101	ORPHA:963
HP:0034930	Digestive system neoplasm	9049	AIP	ORPHA:963
HP:0034930	Digestive system neoplasm	23022	PALLD	OMIM:606856
HP:0034930	Digestive system neoplasm	23022	PALLD	ORPHA:1333
HP:0034930	Digestive system neoplasm	79577	CDC73	ORPHA:143
HP:0034930	Digestive system neoplasm	79577	CDC73	ORPHA:99880
HP:0034930	Digestive system neoplasm	79577	CDC73	OMIM:145001
HP:0034930	Digestive system neoplasm	11330	CTRC	ORPHA:103918
HP:0034930	Digestive system neoplasm	54894	RNF43	ORPHA:157798
HP:0034930	Digestive system neoplasm	285282	RABL3	OMIM:618680
HP:0034930	Digestive system neoplasm	285282	RABL3	ORPHA:1333
HP:0034930	Digestive system neoplasm	4913	NTHL1	ORPHA:454840
HP:0034930	Digestive system neoplasm	4913	NTHL1	OMIM:616415
HP:0034930	Digestive system neoplasm	7373	COL14A1	ORPHA:79501
HP:0034930	Digestive system neoplasm	79719	AAGAB	ORPHA:79501
HP:0034930	Digestive system neoplasm	699	BUB1	OMIM:114500
HP:0034930	Digestive system neoplasm	581	BAX	OMIM:114500
HP:0034930	Digestive system neoplasm	25788	RAD54B	OMIM:114500
HP:0034930	Digestive system neoplasm	5795	PTPRJ	OMIM:114500
HP:0034930	Digestive system neoplasm	5157	PDGFRL	OMIM:114500
HP:0034930	Digestive system neoplasm	1630	DCC	OMIM:114500
HP:0034930	Digestive system neoplasm	207	AKT1	OMIM:114500
HP:0034930	Digestive system neoplasm	673	BRAF	OMIM:114500
HP:0034930	Digestive system neoplasm	10395	DLC1	OMIM:114500
HP:0034930	Digestive system neoplasm	8313	AXIN2	OMIM:114500
HP:0034930	Digestive system neoplasm	4163	MCC	OMIM:114500
HP:0034930	Digestive system neoplasm	2261	FGFR3	OMIM:114500
HP:0034930	Digestive system neoplasm	201163	FLCN	OMIM:114500
HP:0034930	Digestive system neoplasm	7097	TLR2	OMIM:114500
HP:0034930	Digestive system neoplasm	6714	SRC	OMIM:114500
HP:0034930	Digestive system neoplasm	2033	EP300	OMIM:114500
HP:0034930	Digestive system neoplasm	27030	MLH3	OMIM:114500
HP:0034930	Digestive system neoplasm	5320	PLA2G2A	OMIM:114500
HP:0034930	Digestive system neoplasm	1499	CTNNB1	OMIM:114500
HP:0034930	Digestive system neoplasm	6790	AURKA	OMIM:114500
HP:0034930	Digestive system neoplasm	4893	NRAS	OMIM:114500
HP:0034930	Digestive system neoplasm	701	BUB1B	OMIM:114500
HP:0034930	Digestive system neoplasm	5782	PTPN12	OMIM:114500
HP:0034930	Digestive system neoplasm	81704	DOCK8	ORPHA:217390
HP:0034930	Digestive system neoplasm	6390	SDHB	OMIM:606864
HP:0034930	Digestive system neoplasm	6390	SDHB	ORPHA:44890
HP:0034930	Digestive system neoplasm	6391	SDHC	OMIM:606864
HP:0034930	Digestive system neoplasm	6391	SDHC	ORPHA:44890
HP:0034930	Digestive system neoplasm	6392	SDHD	OMIM:606864
HP:0034930	Digestive system neoplasm	6389	SDHA	ORPHA:44890
HP:0034930	Digestive system neoplasm	5156	PDGFRA	ORPHA:44890
HP:0034930	Digestive system neoplasm	3815	KIT	ORPHA:44890
HP:0034930	Digestive system neoplasm	26585	GREM1	ORPHA:157794
HP:0034930	Digestive system neoplasm	389692	MAFA	OMIM:147630
HP:0034930	Digestive system neoplasm	3767	KCNJ11	ORPHA:79644
HP:0034930	Digestive system neoplasm	8643	PTCH2	ORPHA:377
HP:0034930	Digestive system neoplasm	2248	FGF3	ORPHA:2791
HP:0034930	Digestive system neoplasm	51008	ASCC1	OMIM:614266
HP:0034930	Digestive system neoplasm	115908	CTHRC1	OMIM:614266
HP:0034930	Digestive system neoplasm	4481	MSR1	OMIM:614266
HP:0034930	Digestive system neoplasm	6772	STAT1	ORPHA:391487
HP:0034930	Digestive system neoplasm	6049	RNF6	ORPHA:99977
HP:0034930	Digestive system neoplasm	6049	RNF6	OMIM:133239
HP:0034930	Digestive system neoplasm	51741	WWOX	ORPHA:99977
HP:0034930	Digestive system neoplasm	51741	WWOX	OMIM:133239
HP:0034930	Digestive system neoplasm	9940	DLEC1	ORPHA:99977
HP:0034930	Digestive system neoplasm	11178	LZTS1	OMIM:133239
HP:0034930	Digestive system neoplasm	79659	DYNC2H1	OMIM:613091
HP:0034930	Digestive system neoplasm	4123	MAN2C1	OMIM:619775
HP:0034930	Digestive system neoplasm	65250	CPLANE1	OMIM:277170
HP:0034930	Digestive system neoplasm	65250	CPLANE1	ORPHA:2754
HP:0034930	Digestive system neoplasm	153241	CEP120	OMIM:616300
HP:0034930	Digestive system neoplasm	84314	TMEM107	OMIM:617563
HP:0034930	Digestive system neoplasm	4750	NEK1	OMIM:263520
HP:0034930	Digestive system neoplasm	4750	NEK1	ORPHA:2751
HP:0034930	Digestive system neoplasm	26005	C2CD3	ORPHA:434179
HP:0034930	Digestive system neoplasm	26005	C2CD3	OMIM:615948
HP:0034930	Digestive system neoplasm	9786	KIAA0586	OMIM:616546
HP:0034930	Digestive system neoplasm	83479	DDX59	OMIM:174300
HP:0034930	Digestive system neoplasm	27152	INTU	OMIM:617925
HP:0034930	Digestive system neoplasm	1906	EDN1	ORPHA:137888
HP:0034930	Digestive system neoplasm	5332	PLCB4	ORPHA:137888
HP:0034930	Digestive system neoplasm	2773	GNAI3	ORPHA:137888
HP:0034930	Digestive system neoplasm	51057	WDPCP	OMIM:217085
HP:0034930	Digestive system neoplasm	51057	WDPCP	ORPHA:1338
HP:0034930	Digestive system neoplasm	26123	TCTN3	OMIM:258860
HP:0034930	Digestive system neoplasm	26123	TCTN3	ORPHA:2754
HP:0034930	Digestive system neoplasm	79583	TMEM231	ORPHA:2754
HP:0034930	Digestive system neoplasm	10210	TOPORS	ORPHA:2754
HP:0034930	Digestive system neoplasm	9851	KIAA0753	ORPHA:2754
HP:0034930	Digestive system neoplasm	5147	PDE6D	ORPHA:2754
HP:0034930	Digestive system neoplasm	51259	TMEM216	ORPHA:2754
HP:0034930	Digestive system neoplasm	317662	FAM149B1	ORPHA:2754
HP:0034930	Digestive system neoplasm	374654	KIF7	ORPHA:2754
HP:0034930	Digestive system neoplasm	8462	KLF11	ORPHA:552
HP:0034930	Digestive system neoplasm	2645	GCK	ORPHA:552
HP:0034930	Digestive system neoplasm	26060	APPL1	ORPHA:552
HP:0034930	Digestive system neoplasm	640	BLK	ORPHA:552
HP:0034930	Digestive system neoplasm	1056	CEL	ORPHA:552
HP:0034930	Digestive system neoplasm	4760	NEUROD1	ORPHA:552
HP:0034930	Digestive system neoplasm	3651	PDX1	ORPHA:552
HP:0034930	Digestive system neoplasm	6833	ABCC8	ORPHA:552
HP:0034930	Digestive system neoplasm	5078	PAX4	ORPHA:552
HP:0034930	Digestive system neoplasm	3172	HNF4A	ORPHA:552
HP:0034930	Digestive system neoplasm	6927	HNF1A	ORPHA:552
HP:0034930	Digestive system neoplasm	6927	HNF1A	OMIM:142330
HP:0034930	Digestive system neoplasm	3630	INS	ORPHA:552
HP:0034930	Digestive system neoplasm	7543	ZFX	OMIM:301118
HP:0034930	Digestive system neoplasm	5256	PHKA2	ORPHA:264580
HP:0034930	Digestive system neoplasm	5261	PHKG2	ORPHA:264580
HP:0034930	Digestive system neoplasm	999	CDH1	OMIM:137215
HP:0034930	Digestive system neoplasm	3553	IL1B	OMIM:613659
HP:0034930	Digestive system neoplasm	2064	ERBB2	OMIM:613659
HP:0034930	Digestive system neoplasm	3557	IL1RN	OMIM:613659
HP:0034930	Digestive system neoplasm	3659	IRF1	OMIM:613659
HP:0034930	Digestive system neoplasm	2263	FGFR2	OMIM:613659
HP:0034930	Digestive system neoplasm	1316	KLF6	OMIM:613659
HP:0034930	Digestive system neoplasm	23476	BRD4	ORPHA:443167
HP:0034930	Digestive system neoplasm	256646	NUTM1	ORPHA:443167
HP:0034930	Digestive system neoplasm	4194	MDM4	OMIM:618849
HP:0034930	Digestive system neoplasm	89970	RSPRY1	ORPHA:457395
HP:0034930	Digestive system neoplasm	56983	POGLUT1	ORPHA:79145
HP:0034930	Digestive system neoplasm	3852	KRT5	ORPHA:79145
HP:0034930	Digestive system neoplasm	23509	POFUT1	ORPHA:79145
HP:0034930	Digestive system neoplasm	55851	PSENEN	ORPHA:79145
HP:0034930	Digestive system neoplasm	1387	CREBBP	OMIM:180849
HP:0034930	Digestive system neoplasm	6138	RPL15	ORPHA:124
HP:0034930	Digestive system neoplasm	6165	RPL35A	ORPHA:124
HP:0034930	Digestive system neoplasm	6132	RPL8	ORPHA:124
HP:0034930	Digestive system neoplasm	6223	RPS19	ORPHA:124
HP:0034930	Digestive system neoplasm	6232	RPS27	ORPHA:124
HP:0034930	Digestive system neoplasm	55027	HEATR3	ORPHA:124
HP:0034930	Digestive system neoplasm	6160	RPL31	ORPHA:124
HP:0034930	Digestive system neoplasm	6201	RPS7	ORPHA:124
HP:0034930	Digestive system neoplasm	6155	RPL27	ORPHA:124
HP:0034930	Digestive system neoplasm	6234	RPS28	ORPHA:124
HP:0034930	Digestive system neoplasm	6135	RPL11	ORPHA:124
HP:0034930	Digestive system neoplasm	6229	RPS24	ORPHA:124
HP:0034930	Digestive system neoplasm	6125	RPL5	ORPHA:124
HP:0034930	Digestive system neoplasm	6204	RPS10	ORPHA:124
HP:0034930	Digestive system neoplasm	2623	GATA1	ORPHA:124
HP:0034930	Digestive system neoplasm	6133	RPL9	ORPHA:124
HP:0034930	Digestive system neoplasm	6231	RPS26	ORPHA:124
HP:0034930	Digestive system neoplasm	11224	RPL35	ORPHA:124
HP:0034930	Digestive system neoplasm	6218	RPS17	ORPHA:124
HP:0034930	Digestive system neoplasm	6154	RPL26	ORPHA:124
HP:0034930	Digestive system neoplasm	6210	RPS15A	ORPHA:124
HP:0034930	Digestive system neoplasm	90121	TSR2	ORPHA:124
HP:0034930	Digestive system neoplasm	6141	RPL18	ORPHA:124
HP:0034930	Digestive system neoplasm	6235	RPS29	ORPHA:124
HP:0034930	Digestive system neoplasm	51816	ADA2	ORPHA:124
HP:0034930	Digestive system neoplasm	8379	MAD1L1	OMIM:620189
HP:0034930	Digestive system neoplasm	8915	BCL10	OMIM:137245
HP:0034930	Digestive system neoplasm	161742	SPRED1	ORPHA:137605
HP:0034930	Digestive system neoplasm	5774	PTPN3	ORPHA:70567
HP:0034930	Digestive system neoplasm	6098	ROS1	ORPHA:70567
HP:0034930	Digestive system neoplasm	410	ARSA	ORPHA:309271
HP:0034930	Digestive system neoplasm	5660	PSAP	ORPHA:309271
HP:0034930	Digestive system neoplasm	5885	RAD21	OMIM:611376
HP:0034930	Digestive system neoplasm	4629	MYH11	OMIM:619350
HP:0034930	Digestive system neoplasm	8481	OFD1	ORPHA:2750
HP:0034930	Digestive system neoplasm	4952	OCRL	ORPHA:534
HP:0034930	Digestive system neoplasm	3339	HSPG2	ORPHA:800
HP:0034930	Digestive system neoplasm	10804	GJB6	ORPHA:477
HP:0034930	Digestive system neoplasm	2706	GJB2	ORPHA:477
HP:0034930	Digestive system neoplasm	355	FAS	ORPHA:3261
HP:0034930	Digestive system neoplasm	356	FASLG	ORPHA:3261
HP:0034930	Digestive system neoplasm	843	CASP10	ORPHA:3261
HP:0034930	Digestive system neoplasm	4771	NF2	ORPHA:2495
HP:0034930	Digestive system neoplasm	6598	SMARCB1	ORPHA:2495
HP:0034930	Digestive system neoplasm	5155	PDGFB	ORPHA:2495
HP:0034930	Digestive system neoplasm	84231	TRAF7	ORPHA:2495
HP:0034930	Digestive system neoplasm	6608	SMO	ORPHA:2495
HP:0034930	Digestive system neoplasm	51684	SUFU	ORPHA:2495
HP:0034930	Digestive system neoplasm	6605	SMARCE1	ORPHA:2495
HP:0034930	Digestive system neoplasm	23522	KAT6B	ORPHA:3047
HP:0034930	Digestive system neoplasm	4609	MYC	ORPHA:543
HP:0034930	Digestive system neoplasm	4000	LMNA	ORPHA:79474
HP:0034930	Digestive system neoplasm	7486	WRN	ORPHA:902
HP:0034930	Digestive system neoplasm	5324	PLAG1	OMIM:181030
HP:0034930	Digestive system neoplasm	23495	TNFRSF13B	ORPHA:1572
HP:0034930	Digestive system neoplasm	4790	NFKB1	ORPHA:1572
HP:0034930	Digestive system neoplasm	4791	NFKB2	ORPHA:1572
HP:0034930	Digestive system neoplasm	115650	TNFRSF13C	ORPHA:1572
HP:0034930	Digestive system neoplasm	1380	CR2	ORPHA:1572
HP:0034930	Digestive system neoplasm	8742	TNFSF12	ORPHA:1572
HP:0034930	Digestive system neoplasm	930	CD19	ORPHA:1572
HP:0034930	Digestive system neoplasm	29851	ICOS	ORPHA:1572
HP:0034930	Digestive system neoplasm	931	MS4A1	ORPHA:1572
HP:0034930	Digestive system neoplasm	975	CD81	ORPHA:1572
HP:0034930	Digestive system neoplasm	359948	IRF2BP2	ORPHA:1572
HP:0034930	Digestive system neoplasm	4763	NF1	ORPHA:97685
HP:0034930	Digestive system neoplasm	641	BLM	ORPHA:125
HP:0034930	Digestive system neoplasm	79651	RHBDF2	ORPHA:2198
HP:0034930	Digestive system neoplasm	2271	FH	ORPHA:523
HP:0034930	Digestive system neoplasm	1288	COL4A6	ORPHA:1018
HP:0034930	Digestive system neoplasm	1287	COL4A5	ORPHA:1018
HP:0034930	Digestive system neoplasm	2658	GDF2	ORPHA:774
HP:0034930	Digestive system neoplasm	94	ACVRL1	ORPHA:774
HP:0034930	Digestive system neoplasm	2022	ENG	ORPHA:774
HP:0034930	Digestive system neoplasm	9184	BUB3	ORPHA:1052
HP:0034930	Digestive system neoplasm	9702	CEP57	ORPHA:1052
HP:0034930	Digestive system neoplasm	220296	HEPACAM	ORPHA:210548
HP:0034930	Digestive system neoplasm	9817	KEAP1	ORPHA:276399
HP:0034930	Digestive system neoplasm	23405	DICER1	ORPHA:276399
HP:0034930	Digestive system neoplasm	2778	GNAS	OMIM:174800
HP:0025550	Elevated circulating ribitol concentration	22934	RPIA	OMIM:608611
HP:0025550	Elevated circulating ribitol concentration	7086	TKT	ORPHA:488618
HP:0034934	Abnormal circulating 7-dehydrocholesterol concentration	1717	DHCR7	OMIM:270400
HP:0034934	Abnormal circulating 7-dehydrocholesterol concentration	1717	DHCR7	ORPHA:818
HP:0034936	Elevated circulating lathosterol concentration	6309	SC5D	OMIM:607330
HP:0034937	Elevated circulating desmosterol concentration	1718	DHCR24	OMIM:602398
HP:0008804	Broad femoral head	23187	PHLDB1	OMIM:620639
HP:0008804	Broad femoral head	100151683	RNU4ATAC	ORPHA:353298
HP:0003375	Narrow greater sciatic notch	2137	EXTL3	ORPHA:508533
HP:0003375	Narrow greater sciatic notch	2137	EXTL3	OMIM:617425
HP:0003375	Narrow greater sciatic notch	54808	DYM	OMIM:223800
HP:0003375	Narrow greater sciatic notch	59341	TRPV4	OMIM:184252
HP:0003375	Narrow greater sciatic notch	59341	TRPV4	OMIM:156530
HP:0003375	Narrow greater sciatic notch	65992	DDRGK1	OMIM:602557
HP:0003375	Narrow greater sciatic notch	1280	COL2A1	OMIM:184250
HP:0003375	Narrow greater sciatic notch	1280	COL2A1	ORPHA:93316
HP:0003375	Narrow greater sciatic notch	153241	CEP120	OMIM:616300
HP:0003375	Narrow greater sciatic notch	2990	GUSB	OMIM:253220
HP:0003375	Narrow greater sciatic notch	2261	FGFR3	OMIM:100800
HP:0003375	Narrow greater sciatic notch	2261	FGFR3	ORPHA:15
HP:0003375	Narrow greater sciatic notch	755	CFAP410	OMIM:602271
HP:0003375	Narrow greater sciatic notch	145258	GSC	OMIM:602471
HP:0003375	Narrow greater sciatic notch	4148	MATN3	OMIM:608728
HP:0003375	Narrow greater sciatic notch	79796	ALG9	ORPHA:79328
HP:0003375	Narrow greater sciatic notch	79796	ALG9	OMIM:263210
HP:0003375	Narrow greater sciatic notch	1301	COL11A1	OMIM:228520
HP:0003375	Narrow greater sciatic notch	5130	PCYT1A	ORPHA:85167
HP:0003375	Narrow greater sciatic notch	5130	PCYT1A	OMIM:608940
HP:0003375	Narrow greater sciatic notch	6729	SRP54	OMIM:260400
HP:0003375	Narrow greater sciatic notch	51119	SBDS	OMIM:260400
HP:0003375	Narrow greater sciatic notch	134218	DNAJC21	OMIM:260400
HP:0003375	Narrow greater sciatic notch	27152	INTU	OMIM:617925
HP:0003375	Narrow greater sciatic notch	2719	GPC3	OMIM:312870
HP:0003375	Narrow greater sciatic notch	2239	GPC4	OMIM:312870
HP:0003375	Narrow greater sciatic notch	2879	GPX4	OMIM:250220
HP:0005041	Irregular capital femoral epiphysis	1297	COL9A1	OMIM:614134
HP:0005041	Irregular capital femoral epiphysis	55325	UFSP2	OMIM:142669
HP:0005041	Irregular capital femoral epiphysis	59341	TRPV4	OMIM:184252
HP:0005041	Irregular capital femoral epiphysis	100151683	RNU4ATAC	ORPHA:353298
HP:0005041	Irregular capital femoral epiphysis	9719	ADAMTSL2	OMIM:231050
HP:0005041	Irregular capital femoral epiphysis	5830	PEX5	OMIM:616716
HP:0008808	High iliac wing	5745	PTH1R	ORPHA:79106
HP:0008808	High iliac wing	10484	SEC23A	OMIM:607812
HP:0008808	High iliac wing	10484	SEC23A	ORPHA:50814
HP:0008808	High iliac wing	139285	AMER1	ORPHA:2780
HP:0008807	Acetabular dysplasia	1311	COMP	ORPHA:750
HP:0008807	Acetabular dysplasia	2137	EXTL3	ORPHA:508533
HP:0008807	Acetabular dysplasia	1146	CHRNG	OMIM:265000
HP:0008807	Acetabular dysplasia	10717	AP4B1	ORPHA:280763
HP:0008807	Acetabular dysplasia	10717	AP4B1	OMIM:614066
HP:0008807	Acetabular dysplasia	9179	AP4M1	ORPHA:280763
HP:0008807	Acetabular dysplasia	11154	AP4S1	ORPHA:280763
HP:0008807	Acetabular dysplasia	23431	AP4E1	ORPHA:280763
HP:0008807	Acetabular dysplasia	126792	B3GALT6	ORPHA:536467
HP:0008807	Acetabular dysplasia	25885	POLR1A	OMIM:616462
HP:0008807	Acetabular dysplasia	2990	GUSB	OMIM:253220
HP:0008807	Acetabular dysplasia	23443	SLC35A3	OMIM:615553
HP:0008807	Acetabular dysplasia	84700	MYO18B	OMIM:616549
HP:0008807	Acetabular dysplasia	55681	SCYL2	ORPHA:1143
HP:0008807	Acetabular dysplasia	84570	COL25A1	ORPHA:1143
HP:0008807	Acetabular dysplasia	57222	ERGIC1	ORPHA:1143
HP:0008807	Acetabular dysplasia	4897	NRCAM	OMIM:619833
HP:0008807	Acetabular dysplasia	8546	AP3B1	OMIM:608233
HP:0008807	Acetabular dysplasia	29928	TIMM22	OMIM:618851
HP:0008807	Acetabular dysplasia	6210	RPS15A	OMIM:618313
HP:0008807	Acetabular dysplasia	9775	EIF4A3	OMIM:268305
HP:0008807	Acetabular dysplasia	1836	SLC26A2	ORPHA:93307
HP:0008807	Acetabular dysplasia	65082	VPS33A	OMIM:617303
HP:0008807	Acetabular dysplasia	10664	CTCF	OMIM:615502
HP:0008807	Acetabular dysplasia	2720	GLB1	ORPHA:79255
HP:0008843	Hip osteoarthritis	6399	TRAPPC2	ORPHA:93284
HP:0008843	Hip osteoarthritis	6399	TRAPPC2	OMIM:313400
HP:0008843	Hip osteoarthritis	6775	STAT4	ORPHA:85408
HP:0008843	Hip osteoarthritis	3560	IL2RB	ORPHA:85408
HP:0008843	Hip osteoarthritis	79722	ANKRD55	ORPHA:85408
HP:0008843	Hip osteoarthritis	26191	PTPN22	ORPHA:85408
HP:0008843	Hip osteoarthritis	919	CD247	ORPHA:85408
HP:0008843	Hip osteoarthritis	3559	IL2RA	ORPHA:85408
HP:0008843	Hip osteoarthritis	5771	PTPN2	ORPHA:85408
HP:0008843	Hip osteoarthritis	1280	COL2A1	OMIM:604864
HP:0008843	Hip osteoarthritis	1280	COL2A1	OMIM:619248
HP:0008843	Hip osteoarthritis	1280	COL2A1	ORPHA:86820
HP:0008843	Hip osteoarthritis	1311	COMP	OMIM:132400
HP:0008843	Hip osteoarthritis	59341	TRPV4	ORPHA:86820
HP:0008843	Hip osteoarthritis	8200	GDF5	ORPHA:63442
HP:0008843	Hip osteoarthritis	4088	SMAD3	OMIM:613795
HP:0008843	Hip osteoarthritis	4087	SMAD2	OMIM:619656
HP:0008843	Hip osteoarthritis	1186	CLCN7	OMIM:166600
HP:0008843	Hip osteoarthritis	2487	FRZB	OMIM:165720
HP:0008843	Hip osteoarthritis	176	ACAN	OMIM:165800
HP:0008843	Hip osteoarthritis	3106	HLA-B	OMIM:106300
HP:0008800	Limited hip movement	667	DST	OMIM:614653
HP:0008800	Limited hip movement	9469	CHST3	OMIM:143095
HP:0008800	Limited hip movement	2261	FGFR3	OMIM:100800
HP:0008800	Limited hip movement	339855	KY	OMIM:617114
HP:0008800	Limited hip movement	1855	DVL1	OMIM:616331
HP:0008800	Limited hip movement	7169	TPM2	OMIM:108120
HP:0008800	Limited hip movement	4784	NFIX	OMIM:602535
HP:0008800	Limited hip movement	90459	ERI1	OMIM:620663
HP:0008800	Limited hip movement	7138	TNNT1	OMIM:605355
HP:0008800	Limited hip movement	63895	PIEZO2	OMIM:114300
HP:0008800	Limited hip movement	5745	PTH1R	ORPHA:79106
HP:0008800	Limited hip movement	2131	EXT1	ORPHA:321
HP:0008800	Limited hip movement	2132	EXT2	ORPHA:321
HP:0008800	Limited hip movement	8291	DYSF	ORPHA:268
HP:0008800	Limited hip movement	4000	LMNA	ORPHA:740
HP:0008800	Limited hip movement	10269	ZMPSTE24	ORPHA:740
HP:0008800	Limited hip movement	7273	TTN	ORPHA:178464
HP:0008800	Limited hip movement	1311	COMP	OMIM:132400
HP:0008800	Limited hip movement	59341	TRPV4	ORPHA:86820
HP:0008800	Limited hip movement	1280	COL2A1	ORPHA:86820
HP:0008800	Limited hip movement	1280	COL2A1	OMIM:183900
HP:0008800	Limited hip movement	1280	COL2A1	ORPHA:93346
HP:0008800	Limited hip movement	123606	NIPA1	ORPHA:100988
HP:0008800	Limited hip movement	10082	GPC6	OMIM:258315
HP:0008800	Limited hip movement	27145	FILIP1	OMIM:620775
HP:0008800	Limited hip movement	3081	HGD	OMIM:203500
HP:0008800	Limited hip movement	4148	MATN3	ORPHA:93311
HP:0008802	Hypoplasia of the femoral head	3459	IFNGR1	OMIM:209950
HP:0008802	Hypoplasia of the femoral head	1836	SLC26A2	OMIM:226900
HP:0008802	Hypoplasia of the femoral head	3425	IDUA	OMIM:607014
HP:0008802	Hypoplasia of the femoral head	10940	POP1	OMIM:617396
HP:0008802	Hypoplasia of the femoral head	64841	GNPNAT1	OMIM:619598
HP:0008802	Hypoplasia of the femoral head	26146	TRAF3IP1	OMIM:616629
HP:0008801	Hypoplasia of the lesser trochanter	9496	TBX4	OMIM:147891
HP:0034940	Muscle fiber calsequestrin 1-containing inclusion bodies	844	CASQ1	OMIM:616231
HP:0034941	Palatine myxoma	5573	PRKAR1A	OMIM:160980
HP:0034943	Decreased dermal collagen	165	AEBP1	OMIM:618000
HP:0034946	Multiple eyelid margin cysts	80326	WNT10A	OMIM:224750
HP:0034947	Altered location of the longitudinal column in the fibrous sheath	7802	DNALI1	OMIM:620354
HP:0006499	Abnormal femoral epiphysis morphology	9653	HS2ST1	OMIM:619194
HP:0006499	Abnormal femoral epiphysis morphology	9742	IFT140	OMIM:266920
HP:0006499	Abnormal femoral epiphysis morphology	8985	PLOD3	OMIM:612394
HP:0006499	Abnormal femoral epiphysis morphology	2720	GLB1	OMIM:253010
HP:0006499	Abnormal femoral epiphysis morphology	9469	CHST3	OMIM:143095
HP:0006499	Abnormal femoral epiphysis morphology	2137	EXTL3	OMIM:617425
HP:0006499	Abnormal femoral epiphysis morphology	6399	TRAPPC2	OMIM:313400
HP:0006499	Abnormal femoral epiphysis morphology	124583	CANT1	OMIM:617719
HP:0006499	Abnormal femoral epiphysis morphology	9382	COG1	OMIM:611209
HP:0006499	Abnormal femoral epiphysis morphology	5286	PIK3C2A	ORPHA:557003
HP:0006499	Abnormal femoral epiphysis morphology	3835	KIF22	ORPHA:93360
HP:0006499	Abnormal femoral epiphysis morphology	3835	KIF22	OMIM:603546
HP:0006499	Abnormal femoral epiphysis morphology	1836	SLC26A2	OMIM:226900
HP:0006499	Abnormal femoral epiphysis morphology	91252	SLC39A13	ORPHA:157965
HP:0006499	Abnormal femoral epiphysis morphology	91252	SLC39A13	OMIM:612350
HP:0006499	Abnormal femoral epiphysis morphology	84572	GNPTG	OMIM:252605
HP:0006499	Abnormal femoral epiphysis morphology	8838	CCN6	ORPHA:1159
HP:0006499	Abnormal femoral epiphysis morphology	176	ACAN	OMIM:608361
HP:0006499	Abnormal femoral epiphysis morphology	7227	TRPS1	OMIM:190350
HP:0006499	Abnormal femoral epiphysis morphology	9496	TBX4	OMIM:147891
HP:0006499	Abnormal femoral epiphysis morphology	4796	TONSL	ORPHA:93357
HP:0006499	Abnormal femoral epiphysis morphology	4796	TONSL	OMIM:271510
HP:0006499	Abnormal femoral epiphysis morphology	1300	COL10A1	OMIM:156500
HP:0006499	Abnormal femoral epiphysis morphology	1302	COL11A2	OMIM:215150
HP:0006499	Abnormal femoral epiphysis morphology	59341	TRPV4	OMIM:184252
HP:0006499	Abnormal femoral epiphysis morphology	9719	ADAMTSL2	OMIM:231050
HP:0006499	Abnormal femoral epiphysis morphology	5830	PEX5	OMIM:616716
HP:0006499	Abnormal femoral epiphysis morphology	538	ATP7A	ORPHA:198
HP:0006499	Abnormal femoral epiphysis morphology	55898	UNC45A	OMIM:619377
HP:0006499	Abnormal femoral epiphysis morphology	26277	TINF2	OMIM:613990
HP:0006499	Abnormal femoral epiphysis morphology	91754	NEK9	OMIM:614262
HP:0006499	Abnormal femoral epiphysis morphology	9652	SKIC3	OMIM:222470
HP:0006499	Abnormal femoral epiphysis morphology	1857	DVL3	ORPHA:3107
HP:0006499	Abnormal femoral epiphysis morphology	7474	WNT5A	ORPHA:3107
HP:0006499	Abnormal femoral epiphysis morphology	1855	DVL1	ORPHA:3107
HP:0006499	Abnormal femoral epiphysis morphology	2535	FZD2	ORPHA:3107
HP:0006499	Abnormal femoral epiphysis morphology	1387	CREBBP	ORPHA:353277
HP:0006499	Abnormal femoral epiphysis morphology	1387	CREBBP	ORPHA:353281
HP:0006499	Abnormal femoral epiphysis morphology	2335	FN1	ORPHA:93315
HP:0006499	Abnormal femoral epiphysis morphology	81031	SLC2A10	ORPHA:3342
HP:0006499	Abnormal femoral epiphysis morphology	9509	ADAMTS2	ORPHA:1901
HP:0006499	Abnormal femoral epiphysis morphology	4148	MATN3	ORPHA:93311
HP:0006499	Abnormal femoral epiphysis morphology	2131	EXT1	ORPHA:502
HP:0006499	Abnormal femoral epiphysis morphology	5885	RAD21	ORPHA:502
HP:0006499	Abnormal femoral epiphysis morphology	11277	TREX1	ORPHA:247691
HP:0006499	Abnormal femoral epiphysis morphology	2033	EP300	ORPHA:353284
HP:0006499	Abnormal femoral epiphysis morphology	10847	SRCAP	ORPHA:2044
HP:0006499	Abnormal femoral epiphysis morphology	25782	RAB3GAP2	OMIM:212720
HP:0006499	Abnormal femoral epiphysis morphology	64374	SIL1	ORPHA:559
HP:0006499	Abnormal femoral epiphysis morphology	1278	COL1A2	ORPHA:1899
HP:0006499	Abnormal femoral epiphysis morphology	1277	COL1A1	ORPHA:1899
HP:0006499	Abnormal femoral epiphysis morphology	1297	COL9A1	OMIM:614134
HP:0006499	Abnormal femoral epiphysis morphology	6137	RPL13	OMIM:618728
HP:0006499	Abnormal femoral epiphysis morphology	1301	COL11A1	OMIM:154780
HP:0006499	Abnormal femoral epiphysis morphology	100151683	RNU4ATAC	OMIM:616651
HP:0006499	Abnormal femoral epiphysis morphology	990	CDC6	OMIM:613805
HP:0006499	Abnormal femoral epiphysis morphology	54808	DYM	OMIM:223800
HP:0006499	Abnormal femoral epiphysis morphology	89970	RSPRY1	ORPHA:457395
HP:0006499	Abnormal femoral epiphysis morphology	89970	RSPRY1	OMIM:616723
HP:0006499	Abnormal femoral epiphysis morphology	5979	RET	OMIM:162300
HP:0006499	Abnormal femoral epiphysis morphology	2972	BRF1	OMIM:616202
HP:0006499	Abnormal femoral epiphysis morphology	652	BMP4	ORPHA:828
HP:0006499	Abnormal femoral epiphysis morphology	5116	PCNT	OMIM:210720
HP:0006499	Abnormal femoral epiphysis morphology	6729	SRP54	OMIM:260400
HP:0006499	Abnormal femoral epiphysis morphology	51119	SBDS	OMIM:260400
HP:0006499	Abnormal femoral epiphysis morphology	51119	SBDS	ORPHA:811
HP:0006499	Abnormal femoral epiphysis morphology	134218	DNAJC21	OMIM:260400
HP:0006499	Abnormal femoral epiphysis morphology	134218	DNAJC21	ORPHA:811
HP:0006499	Abnormal femoral epiphysis morphology	79631	EFL1	ORPHA:811
HP:0006499	Abnormal femoral epiphysis morphology	1311	COMP	ORPHA:750
HP:0006499	Abnormal femoral epiphysis morphology	3339	HSPG2	OMIM:255800
HP:0006499	Abnormal femoral epiphysis morphology	1280	COL2A1	OMIM:108300
HP:0006499	Abnormal femoral epiphysis morphology	50485	SMARCAL1	ORPHA:1830
HP:0006499	Abnormal femoral epiphysis morphology	9131	AIFM1	OMIM:300232
HP:0006499	Abnormal femoral epiphysis morphology	3549	IHH	OMIM:607778
HP:0006499	Abnormal femoral epiphysis morphology	79848	CSPP1	ORPHA:397715
HP:0006499	Abnormal femoral epiphysis morphology	9786	KIAA0586	ORPHA:397715
HP:0006499	Abnormal femoral epiphysis morphology	5626	PROP1	ORPHA:226307
HP:0006499	Abnormal femoral epiphysis morphology	89884	LHX4	ORPHA:226307
HP:0006499	Abnormal femoral epiphysis morphology	8022	LHX3	ORPHA:226307
HP:0006499	Abnormal femoral epiphysis morphology	5449	POU1F1	ORPHA:226307
HP:0006499	Abnormal femoral epiphysis morphology	8820	HESX1	ORPHA:226307
HP:0006499	Abnormal femoral epiphysis morphology	405753	DUOXA2	ORPHA:95716
HP:0006499	Abnormal femoral epiphysis morphology	6528	SLC5A5	ORPHA:95716
HP:0006499	Abnormal femoral epiphysis morphology	7038	TG	ORPHA:95716
HP:0006499	Abnormal femoral epiphysis morphology	7173	TPO	ORPHA:95716
HP:0006499	Abnormal femoral epiphysis morphology	389434	IYD	ORPHA:95716
HP:0006499	Abnormal femoral epiphysis morphology	50506	DUOX2	ORPHA:95716
HP:0006499	Abnormal femoral epiphysis morphology	7253	TSHR	ORPHA:90673
HP:0006499	Abnormal femoral epiphysis morphology	7252	TSHB	ORPHA:90674
HP:0006499	Abnormal femoral epiphysis morphology	126792	B3GALT6	OMIM:271640
HP:0006499	Abnormal femoral epiphysis morphology	55325	UFSP2	ORPHA:2114
HP:0006499	Abnormal femoral epiphysis morphology	60561	RINT1	OMIM:618641
HP:0003093	Limited hip extension	667	DST	OMIM:614653
HP:0003093	Limited hip extension	9469	CHST3	OMIM:143095
HP:0003093	Limited hip extension	1311	COMP	ORPHA:750
HP:0003093	Limited hip extension	1311	COMP	OMIM:177170
HP:0003093	Limited hip extension	2261	FGFR3	OMIM:100800
HP:0003093	Limited hip extension	339855	KY	OMIM:617114
HP:0003093	Limited hip extension	1855	DVL1	OMIM:616331
HP:0008812	Flattened femoral head	89970	RSPRY1	ORPHA:457395
HP:0008812	Flattened femoral head	6399	TRAPPC2	ORPHA:93284
HP:0008812	Flattened femoral head	10216	PRG4	ORPHA:2848
HP:0008812	Flattened femoral head	2720	GLB1	ORPHA:79255
HP:0008812	Flattened femoral head	1280	COL2A1	ORPHA:1856
HP:0008812	Flattened femoral head	1280	COL2A1	ORPHA:86820
HP:0008812	Flattened femoral head	83452	RAB33B	OMIM:615222
HP:0008812	Flattened femoral head	59341	TRPV4	ORPHA:86820
HP:0003185	Short greater sciatic notch	2261	FGFR3	OMIM:187601
HP:0003185	Short greater sciatic notch	2261	FGFR3	ORPHA:1860
HP:0003185	Short greater sciatic notch	2261	FGFR3	OMIM:187600
HP:0003185	Short greater sciatic notch	2719	GPC3	OMIM:312870
HP:0003185	Short greater sciatic notch	2239	GPC4	OMIM:312870
HP:0003185	Short greater sciatic notch	1836	SLC26A2	OMIM:256050
HP:0003185	Short greater sciatic notch	59341	TRPV4	ORPHA:93314
HP:0100865	Broad ischia	2137	EXTL3	ORPHA:508533
HP:0100865	Broad ischia	2137	EXTL3	OMIM:617425
HP:0100865	Broad ischia	79639	TMEM53	OMIM:619727
HP:0100865	Broad ischia	79796	ALG9	ORPHA:79328
HP:0100865	Broad ischia	3977	LIFR	OMIM:601559
HP:0100865	Broad ischia	1301	COL11A1	OMIM:228520
HP:0008817	Aplastic pubic bone	7476	WNT7A	OMIM:276820
HP:0008839	Hypoplastic pelvis	1311	COMP	ORPHA:750
HP:0008839	Hypoplastic pelvis	2074	ERCC6	OMIM:133540
HP:0008839	Hypoplastic pelvis	2261	FGFR3	OMIM:187600
HP:0008839	Hypoplastic pelvis	1280	COL2A1	OMIM:156550
HP:0008839	Hypoplastic pelvis	1280	COL2A1	ORPHA:85166
HP:0008839	Hypoplastic pelvis	7476	WNT7A	OMIM:228930
HP:0008839	Hypoplastic pelvis	153241	CEP120	OMIM:616300
HP:0008839	Hypoplastic pelvis	64840	PORCN	ORPHA:2092
HP:0008839	Hypoplastic pelvis	340419	RSPO2	OMIM:618022
HP:0008839	Hypoplastic pelvis	50485	SMARCAL1	ORPHA:1830
HP:0008839	Hypoplastic pelvis	50814	NSDHL	OMIM:308050
HP:0008839	Hypoplastic pelvis	9820	CUL7	ORPHA:2616
HP:0008839	Hypoplastic pelvis	9820	CUL7	OMIM:273750
HP:0008839	Hypoplastic pelvis	23363	OBSL1	ORPHA:2616
HP:0008839	Hypoplastic pelvis	83987	CCDC8	ORPHA:2616
HP:0008839	Hypoplastic pelvis	25886	POC1A	OMIM:614813
HP:0008839	Hypoplastic pelvis	1161	ERCC8	OMIM:216400
HP:0008839	Hypoplastic pelvis	7473	WNT3	OMIM:273395
HP:0008819	Narrow femoral neck	1280	COL2A1	OMIM:609162
HP:0008819	Narrow femoral neck	3835	KIF22	OMIM:603546
HP:0008818	Large iliac wing	2990	GUSB	OMIM:253220
HP:0008818	Large iliac wing	100151683	RNU4ATAC	ORPHA:2636
HP:0008818	Large iliac wing	538	ATP7A	ORPHA:198
HP:0008818	Large iliac wing	139285	AMER1	ORPHA:2780
HP:0008818	Large iliac wing	4089	SMAD4	ORPHA:2588
HP:0008818	Large iliac wing	126792	B3GALT6	OMIM:271640
HP:0002827	Hip dislocation	9361	LONP1	OMIM:600373
HP:0002827	Hip dislocation	9361	LONP1	ORPHA:1458
HP:0002827	Hip dislocation	6261	RYR1	ORPHA:597
HP:0002827	Hip dislocation	6261	RYR1	OMIM:117000
HP:0002827	Hip dislocation	64840	PORCN	OMIM:305600
HP:0002827	Hip dislocation	6628	SNRPB	OMIM:117650
HP:0002827	Hip dislocation	134218	DNAJC21	OMIM:617052
HP:0002827	Hip dislocation	1182	CLCN3	OMIM:619512
HP:0002827	Hip dislocation	63895	PIEZO2	OMIM:114300
HP:0002827	Hip dislocation	2138	EYA1	OMIM:113650
HP:0002827	Hip dislocation	6495	SIX1	OMIM:113650
HP:0002827	Hip dislocation	84627	ZNF469	OMIM:229200
HP:0002827	Hip dislocation	5048	PAFAH1B1	ORPHA:217385
HP:0002827	Hip dislocation	7531	YWHAE	ORPHA:217385
HP:0002827	Hip dislocation	6885	MAP3K7	OMIM:617137
HP:0002827	Hip dislocation	23363	OBSL1	ORPHA:2616
HP:0002827	Hip dislocation	83987	CCDC8	ORPHA:2616
HP:0002827	Hip dislocation	8195	MKKS	OMIM:236700
HP:0002827	Hip dislocation	1131	CHRM3	ORPHA:2970
HP:0002827	Hip dislocation	1131	CHRM3	OMIM:100100
HP:0002827	Hip dislocation	10060	ABCC9	OMIM:619719
HP:0002827	Hip dislocation	23545	ATP6V0A2	OMIM:219200
HP:0002827	Hip dislocation	23545	ATP6V0A2	ORPHA:357074
HP:0002827	Hip dislocation	23545	ATP6V0A2	ORPHA:2834
HP:0002827	Hip dislocation	23545	ATP6V0A2	OMIM:278250
HP:0002827	Hip dislocation	9401	RECQL4	OMIM:268400
HP:0002827	Hip dislocation	89910	UBE3B	OMIM:244450
HP:0002827	Hip dislocation	1723	DHODH	OMIM:263750
HP:0002827	Hip dislocation	60482	SLC5A7	ORPHA:98914
HP:0002827	Hip dislocation	4649	MYO9A	ORPHA:98914
HP:0002827	Hip dislocation	1305	COL13A1	ORPHA:98914
HP:0002827	Hip dislocation	1103	CHAT	ORPHA:98914
HP:0002827	Hip dislocation	6576	SLC25A1	ORPHA:98914
HP:0002827	Hip dislocation	6843	VAMP1	ORPHA:98914
HP:0002827	Hip dislocation	375790	AGRN	ORPHA:98914
HP:0002827	Hip dislocation	127833	SYT2	ORPHA:98914
HP:0002827	Hip dislocation	6572	SLC18A3	ORPHA:98914
HP:0002827	Hip dislocation	6616	SNAP25	ORPHA:98914
HP:0002827	Hip dislocation	55768	NGLY1	ORPHA:404454
HP:0002827	Hip dislocation	2273	FHL1	OMIM:300280
HP:0002827	Hip dislocation	6904	TBCD	ORPHA:496641
HP:0002827	Hip dislocation	7547	ZIC3	OMIM:306955
HP:0002827	Hip dislocation	2239	GPC4	ORPHA:373
HP:0002827	Hip dislocation	2719	GPC3	ORPHA:373
HP:0002827	Hip dislocation	529	ATP6V1E1	ORPHA:357074
HP:0002827	Hip dislocation	5528	PPP2R5D	ORPHA:457279
HP:0002827	Hip dislocation	5528	PPP2R5D	OMIM:616355
HP:0002827	Hip dislocation	8260	NAA10	OMIM:300855
HP:0002827	Hip dislocation	50814	NSDHL	OMIM:308050
HP:0002827	Hip dislocation	23522	KAT6B	OMIM:606170
HP:0002827	Hip dislocation	50628	GEMIN4	OMIM:617913
HP:0002827	Hip dislocation	3339	HSPG2	OMIM:255800
HP:0002827	Hip dislocation	1281	COL3A1	ORPHA:286
HP:0002827	Hip dislocation	57190	SELENON	ORPHA:2020
HP:0002827	Hip dislocation	4633	MYL2	ORPHA:2020
HP:0002827	Hip dislocation	3679	ITGA7	ORPHA:2020
HP:0002827	Hip dislocation	9200	HACD1	ORPHA:2020
HP:0002827	Hip dislocation	7170	TPM3	ORPHA:2020
HP:0002827	Hip dislocation	7170	TPM3	OMIM:255310
HP:0002827	Hip dislocation	51776	MAP3K20	ORPHA:2020
HP:0002827	Hip dislocation	9427	ECEL1	OMIM:615065
HP:0002827	Hip dislocation	7067	THRA	OMIM:614450
HP:0002827	Hip dislocation	4035	LRP1	OMIM:620690
HP:0002827	Hip dislocation	55703	POLR3B	OMIM:614381
HP:0002827	Hip dislocation	10262	SF3B4	OMIM:154400
HP:0002827	Hip dislocation	10054	UBA2	OMIM:619959
HP:0002827	Hip dislocation	652	BMP4	ORPHA:828
HP:0002827	Hip dislocation	1303	COL12A1	ORPHA:75840
HP:0002827	Hip dislocation	1303	COL12A1	OMIM:616471
HP:0002827	Hip dislocation	1291	COL6A1	ORPHA:75840
HP:0002827	Hip dislocation	1291	COL6A1	OMIM:254090
HP:0002827	Hip dislocation	1292	COL6A2	ORPHA:75840
HP:0002827	Hip dislocation	1292	COL6A2	OMIM:620727
HP:0002827	Hip dislocation	1293	COL6A3	ORPHA:75840
HP:0002827	Hip dislocation	2317	FLNB	ORPHA:56305
HP:0002827	Hip dislocation	2317	FLNB	OMIM:150250
HP:0002827	Hip dislocation	4784	NFIX	ORPHA:447980
HP:0002827	Hip dislocation	6662	SOX9	ORPHA:140
HP:0002827	Hip dislocation	6662	SOX9	OMIM:114290
HP:0002827	Hip dislocation	58	ACTA1	ORPHA:171436
HP:0002827	Hip dislocation	7169	TPM2	ORPHA:171436
HP:0002827	Hip dislocation	4703	NEB	ORPHA:171436
HP:0002827	Hip dislocation	10324	KLHL41	ORPHA:171436
HP:0002827	Hip dislocation	56203	LMOD3	ORPHA:171436
HP:0002827	Hip dislocation	1073	CFL2	ORPHA:171436
HP:0002827	Hip dislocation	6536	SLC6A9	OMIM:617301
HP:0002827	Hip dislocation	1855	DVL1	OMIM:616331
HP:0002827	Hip dislocation	1855	DVL1	ORPHA:3107
HP:0002827	Hip dislocation	16	AARS1	OMIM:616339
HP:0002827	Hip dislocation	1717	DHCR7	ORPHA:818
HP:0002827	Hip dislocation	1717	DHCR7	OMIM:270400
HP:0002827	Hip dislocation	9915	ARNT2	OMIM:615926
HP:0002827	Hip dislocation	10225	CD96	OMIM:211750
HP:0002827	Hip dislocation	79158	GNPTAB	OMIM:252500
HP:0002827	Hip dislocation	79158	GNPTAB	ORPHA:576
HP:0002827	Hip dislocation	4626	MYH8	ORPHA:3377
HP:0002827	Hip dislocation	4626	MYH8	OMIM:158300
HP:0002827	Hip dislocation	4038	LRP4	ORPHA:3258
HP:0002827	Hip dislocation	324	APC	ORPHA:3258
HP:0002827	Hip dislocation	1146	CHRNG	OMIM:265000
HP:0002827	Hip dislocation	1351	COX8A	OMIM:619059
HP:0002827	Hip dislocation	3899	AFF3	OMIM:619297
HP:0002827	Hip dislocation	3572	IL6ST	OMIM:618523
HP:0002827	Hip dislocation	55699	IARS2	ORPHA:436174
HP:0002827	Hip dislocation	55699	IARS2	OMIM:616007
HP:0002827	Hip dislocation	672	BRCA1	ORPHA:84
HP:0002827	Hip dislocation	10459	MAD2L2	ORPHA:84
HP:0002827	Hip dislocation	7516	XRCC2	ORPHA:84
HP:0002827	Hip dislocation	29089	UBE2T	ORPHA:84
HP:0002827	Hip dislocation	675	BRCA2	ORPHA:84
HP:0002827	Hip dislocation	55120	FANCL	ORPHA:84
HP:0002827	Hip dislocation	2177	FANCD2	ORPHA:84
HP:0002827	Hip dislocation	2175	FANCA	ORPHA:84
HP:0002827	Hip dislocation	2187	FANCB	ORPHA:84
HP:0002827	Hip dislocation	2187	FANCB	ORPHA:3412
HP:0002827	Hip dislocation	2176	FANCC	ORPHA:84
HP:0002827	Hip dislocation	2178	FANCE	ORPHA:84
HP:0002827	Hip dislocation	2188	FANCF	ORPHA:84
HP:0002827	Hip dislocation	2189	FANCG	ORPHA:84
HP:0002827	Hip dislocation	5888	RAD51	ORPHA:84
HP:0002827	Hip dislocation	5889	RAD51C	ORPHA:84
HP:0002827	Hip dislocation	55159	RFWD3	ORPHA:84
HP:0002827	Hip dislocation	83990	BRIP1	ORPHA:84
HP:0002827	Hip dislocation	57697	FANCM	ORPHA:84
HP:0002827	Hip dislocation	79728	PALB2	ORPHA:84
HP:0002827	Hip dislocation	84464	SLX4	ORPHA:84
HP:0002827	Hip dislocation	2072	ERCC4	ORPHA:84
HP:0002827	Hip dislocation	55215	FANCI	ORPHA:84
HP:0002827	Hip dislocation	8200	GDF5	ORPHA:968
HP:0002827	Hip dislocation	8200	GDF5	OMIM:201250
HP:0002827	Hip dislocation	1277	COL1A1	ORPHA:287
HP:0002827	Hip dislocation	1277	COL1A1	ORPHA:1899
HP:0002827	Hip dislocation	1289	COL5A1	ORPHA:287
HP:0002827	Hip dislocation	1290	COL5A2	ORPHA:287
HP:0002827	Hip dislocation	57531	HACE1	ORPHA:464282
HP:0002827	Hip dislocation	57531	HACE1	OMIM:616756
HP:0002827	Hip dislocation	9896	FIG4	ORPHA:3472
HP:0002827	Hip dislocation	9896	FIG4	OMIM:216340
HP:0002827	Hip dislocation	55697	VAC14	ORPHA:3472
HP:0002827	Hip dislocation	860	RUNX2	OMIM:119600
HP:0002827	Hip dislocation	22872	SEC31A	OMIM:618651
HP:0002827	Hip dislocation	10682	EBP	ORPHA:35173
HP:0002827	Hip dislocation	28514	DLL1	ORPHA:93926
HP:0002827	Hip dislocation	28514	DLL1	ORPHA:93924
HP:0002827	Hip dislocation	28514	DLL1	ORPHA:93925
HP:0002827	Hip dislocation	28514	DLL1	ORPHA:220386
HP:0002827	Hip dislocation	2253	FGF8	ORPHA:93926
HP:0002827	Hip dislocation	2253	FGF8	ORPHA:93924
HP:0002827	Hip dislocation	2253	FGF8	ORPHA:93925
HP:0002827	Hip dislocation	2253	FGF8	ORPHA:220386
HP:0002827	Hip dislocation	6496	SIX3	ORPHA:93926
HP:0002827	Hip dislocation	6496	SIX3	ORPHA:93924
HP:0002827	Hip dislocation	6496	SIX3	ORPHA:93925
HP:0002827	Hip dislocation	6496	SIX3	ORPHA:220386
HP:0002827	Hip dislocation	7050	TGIF1	ORPHA:93926
HP:0002827	Hip dislocation	7050	TGIF1	ORPHA:93924
HP:0002827	Hip dislocation	7050	TGIF1	ORPHA:93925
HP:0002827	Hip dislocation	7050	TGIF1	ORPHA:220386
HP:0002827	Hip dislocation	4838	NODAL	ORPHA:93926
HP:0002827	Hip dislocation	4838	NODAL	ORPHA:93924
HP:0002827	Hip dislocation	4838	NODAL	ORPHA:93925
HP:0002827	Hip dislocation	4838	NODAL	ORPHA:220386
HP:0002827	Hip dislocation	6469	SHH	ORPHA:93926
HP:0002827	Hip dislocation	6469	SHH	ORPHA:93924
HP:0002827	Hip dislocation	6469	SHH	ORPHA:93925
HP:0002827	Hip dislocation	6469	SHH	ORPHA:220386
HP:0002827	Hip dislocation	7546	ZIC2	ORPHA:93926
HP:0002827	Hip dislocation	7546	ZIC2	ORPHA:93924
HP:0002827	Hip dislocation	7546	ZIC2	ORPHA:93925
HP:0002827	Hip dislocation	7546	ZIC2	ORPHA:220386
HP:0002827	Hip dislocation	6491	STIL	ORPHA:93926
HP:0002827	Hip dislocation	6491	STIL	ORPHA:93924
HP:0002827	Hip dislocation	6491	STIL	ORPHA:93925
HP:0002827	Hip dislocation	6491	STIL	ORPHA:220386
HP:0002827	Hip dislocation	2619	GAS1	ORPHA:93926
HP:0002827	Hip dislocation	2619	GAS1	ORPHA:93924
HP:0002827	Hip dislocation	2619	GAS1	ORPHA:93925
HP:0002827	Hip dislocation	2619	GAS1	ORPHA:220386
HP:0002827	Hip dislocation	84976	DISP1	ORPHA:93926
HP:0002827	Hip dislocation	84976	DISP1	ORPHA:93924
HP:0002827	Hip dislocation	84976	DISP1	ORPHA:93925
HP:0002827	Hip dislocation	84976	DISP1	ORPHA:220386
HP:0002827	Hip dislocation	2736	GLI2	ORPHA:93926
HP:0002827	Hip dislocation	2736	GLI2	ORPHA:93924
HP:0002827	Hip dislocation	2736	GLI2	ORPHA:93925
HP:0002827	Hip dislocation	2736	GLI2	ORPHA:220386
HP:0002827	Hip dislocation	8928	FOXH1	ORPHA:93926
HP:0002827	Hip dislocation	8928	FOXH1	ORPHA:93924
HP:0002827	Hip dislocation	8928	FOXH1	ORPHA:93925
HP:0002827	Hip dislocation	8928	FOXH1	ORPHA:220386
HP:0002827	Hip dislocation	6997	CRIPTO	ORPHA:93926
HP:0002827	Hip dislocation	6997	CRIPTO	ORPHA:93924
HP:0002827	Hip dislocation	6997	CRIPTO	ORPHA:93925
HP:0002827	Hip dislocation	6997	CRIPTO	ORPHA:220386
HP:0002827	Hip dislocation	5727	PTCH1	ORPHA:93926
HP:0002827	Hip dislocation	5727	PTCH1	ORPHA:93924
HP:0002827	Hip dislocation	5727	PTCH1	ORPHA:93925
HP:0002827	Hip dislocation	5727	PTCH1	ORPHA:220386
HP:0002827	Hip dislocation	50937	CDON	ORPHA:93926
HP:0002827	Hip dislocation	50937	CDON	ORPHA:93924
HP:0002827	Hip dislocation	50937	CDON	ORPHA:93925
HP:0002827	Hip dislocation	50937	CDON	ORPHA:220386
HP:0002827	Hip dislocation	2260	FGFR1	ORPHA:93924
HP:0002827	Hip dislocation	2260	FGFR1	ORPHA:220386
HP:0002827	Hip dislocation	23007	PLCH1	ORPHA:93925
HP:0002827	Hip dislocation	10735	STAG2	ORPHA:93925
HP:0002827	Hip dislocation	10735	STAG2	ORPHA:220386
HP:0002827	Hip dislocation	7468	NSD2	OMIM:194190
HP:0002827	Hip dislocation	10815	CPLX1	OMIM:194190
HP:0002827	Hip dislocation	1487	CTBP1	OMIM:194190
HP:0002827	Hip dislocation	53834	FGFRL1	OMIM:194190
HP:0002827	Hip dislocation	3954	LETM1	OMIM:194190
HP:0002827	Hip dislocation	9487	PIGL	ORPHA:3474
HP:0002827	Hip dislocation	2697	GJA1	OMIM:164200
HP:0002827	Hip dislocation	165	AEBP1	ORPHA:536532
HP:0002827	Hip dislocation	165	AEBP1	OMIM:618000
HP:0002827	Hip dislocation	85301	COL27A1	OMIM:615155
HP:0002827	Hip dislocation	1857	DVL3	ORPHA:3107
HP:0002827	Hip dislocation	7474	WNT5A	ORPHA:3107
HP:0002827	Hip dislocation	2535	FZD2	ORPHA:3107
HP:0002827	Hip dislocation	3098	HK1	OMIM:618547
HP:0002827	Hip dislocation	81031	SLC2A10	ORPHA:3342
HP:0002827	Hip dislocation	4952	OCRL	OMIM:309000
HP:0002827	Hip dislocation	4952	OCRL	ORPHA:534
HP:0002827	Hip dislocation	145258	GSC	OMIM:602471
HP:0002827	Hip dislocation	6558	SLC12A2	OMIM:619083
HP:0002827	Hip dislocation	78989	COLEC11	OMIM:265050
HP:0002827	Hip dislocation	78989	COLEC11	ORPHA:293843
HP:0002827	Hip dislocation	3251	HPRT1	OMIM:300322
HP:0002827	Hip dislocation	23187	PHLDB1	OMIM:620639
HP:0002827	Hip dislocation	7140	TNNT3	OMIM:618435
HP:0002827	Hip dislocation	2316	FLNA	ORPHA:2484
HP:0002827	Hip dislocation	2316	FLNA	OMIM:309350
HP:0002827	Hip dislocation	2316	FLNA	OMIM:311300
HP:0002827	Hip dislocation	5832	ALDH18A1	OMIM:219150
HP:0002827	Hip dislocation	5832	ALDH18A1	ORPHA:90348
HP:0002827	Hip dislocation	5832	ALDH18A1	OMIM:616603
HP:0002827	Hip dislocation	3187	HNRNPH1	OMIM:620083
HP:0002827	Hip dislocation	4920	ROR2	OMIM:268310
HP:0002827	Hip dislocation	3835	KIF22	OMIM:603546
HP:0002827	Hip dislocation	3835	KIF22	ORPHA:93360
HP:0002827	Hip dislocation	7030	TFE3	OMIM:301066
HP:0002827	Hip dislocation	51651	PTRH2	OMIM:616263
HP:0002827	Hip dislocation	2006	ELN	ORPHA:90348
HP:0002827	Hip dislocation	10516	FBLN5	ORPHA:90348
HP:0002827	Hip dislocation	10516	FBLN5	ORPHA:90349
HP:0002827	Hip dislocation	4052	LTBP1	ORPHA:90349
HP:0002827	Hip dislocation	4052	LTBP1	OMIM:619451
HP:0002827	Hip dislocation	30008	EFEMP2	ORPHA:90349
HP:0002827	Hip dislocation	55681	SCYL2	ORPHA:1143
HP:0002827	Hip dislocation	84570	COL25A1	ORPHA:1143
HP:0002827	Hip dislocation	57222	ERGIC1	ORPHA:1143
HP:0002827	Hip dislocation	7476	WNT7A	OMIM:276820
HP:0002827	Hip dislocation	9939	RBM8A	ORPHA:3320
HP:0002827	Hip dislocation	9939	RBM8A	OMIM:274000
HP:0002827	Hip dislocation	9775	EIF4A3	OMIM:268305
HP:0002827	Hip dislocation	81603	TRIM8	OMIM:619428
HP:0002827	Hip dislocation	2737	GLI3	ORPHA:672
HP:0002827	Hip dislocation	2737	GLI3	OMIM:146510
HP:0002827	Hip dislocation	2737	GLI3	ORPHA:93322
HP:0002827	Hip dislocation	22827	PUF60	ORPHA:508498
HP:0002827	Hip dislocation	22827	PUF60	OMIM:615583
HP:0002827	Hip dislocation	55906	ZC4H2	OMIM:301041
HP:0002827	Hip dislocation	55906	ZC4H2	OMIM:314580
HP:0002827	Hip dislocation	9759	HDAC4	OMIM:619797
HP:0002827	Hip dislocation	56896	DPYSL5	OMIM:619435
HP:0002827	Hip dislocation	579	NKX3-2	OMIM:613330
HP:0002827	Hip dislocation	100151683	RNU4ATAC	OMIM:210710
HP:0002827	Hip dislocation	100151683	RNU4ATAC	OMIM:226960
HP:0002827	Hip dislocation	253738	EBF3	ORPHA:96148
HP:0002827	Hip dislocation	90459	ERI1	OMIM:620663
HP:0002827	Hip dislocation	90459	ERI1	OMIM:620662
HP:0002827	Hip dislocation	79796	ALG9	OMIM:608776
HP:0002827	Hip dislocation	1278	COL1A2	OMIM:617821
HP:0002827	Hip dislocation	1278	COL1A2	ORPHA:1899
HP:0002827	Hip dislocation	1836	SLC26A2	ORPHA:93307
HP:0002827	Hip dislocation	55784	MCTP2	ORPHA:1596
HP:0002827	Hip dislocation	8085	KMT2D	ORPHA:2322
HP:0002827	Hip dislocation	7403	KDM6A	ORPHA:2322
HP:0002827	Hip dislocation	7403	KDM6A	OMIM:300867
HP:0002827	Hip dislocation	5831	PYCR1	OMIM:614438
HP:0002827	Hip dislocation	5831	PYCR1	ORPHA:2078
HP:0002827	Hip dislocation	51010	EXOSC3	OMIM:614678
HP:0002827	Hip dislocation	6263	RYR3	OMIM:620310
HP:0002827	Hip dislocation	2067	ERCC1	OMIM:610758
HP:0002827	Hip dislocation	23499	MACF1	ORPHA:572013
HP:0002827	Hip dislocation	387119	CEP85L	ORPHA:572013
HP:0002827	Hip dislocation	64135	IFIH1	OMIM:182250
HP:0002827	Hip dislocation	29925	GMPPB	ORPHA:370968
HP:0002827	Hip dislocation	79147	FKRP	ORPHA:370968
HP:0002827	Hip dislocation	29954	POMT2	ORPHA:370968
HP:0002827	Hip dislocation	29954	POMT2	OMIM:613156
HP:0002827	Hip dislocation	9215	LARGE1	ORPHA:370968
HP:0002827	Hip dislocation	10585	POMT1	ORPHA:370968
HP:0002827	Hip dislocation	4621	MYH3	OMIM:193700
HP:0002827	Hip dislocation	2530	FUT8	OMIM:618005
HP:0002827	Hip dislocation	64131	XYLT1	OMIM:615777
HP:0002827	Hip dislocation	29920	PYCR2	ORPHA:481152
HP:0002827	Hip dislocation	9820	CUL7	OMIM:273750
HP:0002827	Hip dislocation	6678	SPARC	OMIM:616507
HP:0002827	Hip dislocation	9719	ADAMTSL2	ORPHA:1901
HP:0002827	Hip dislocation	9509	ADAMTS2	ORPHA:1901
HP:0002827	Hip dislocation	5351	PLOD1	ORPHA:1900
HP:0002827	Hip dislocation	64093	SMOC1	ORPHA:1106
HP:0002827	Hip dislocation	64093	SMOC1	OMIM:206920
HP:0002827	Hip dislocation	25778	DSTYK	ORPHA:101003
HP:0002827	Hip dislocation	1280	COL2A1	OMIM:156550
HP:0002827	Hip dislocation	1280	COL2A1	OMIM:183900
HP:0002827	Hip dislocation	2743	GLRB	ORPHA:3197
HP:0002827	Hip dislocation	2741	GLRA1	ORPHA:3197
HP:0002827	Hip dislocation	2741	GLRA1	OMIM:149400
HP:0002827	Hip dislocation	10243	GPHN	ORPHA:3197
HP:0002827	Hip dislocation	10243	GPHN	OMIM:149400
HP:0002827	Hip dislocation	84896	ATAD1	ORPHA:3197
HP:0002827	Hip dislocation	9152	SLC6A5	ORPHA:3197
HP:0002827	Hip dislocation	26175	LYSET	OMIM:619345
HP:0002827	Hip dislocation	9451	EIF2AK3	OMIM:226980
HP:0002827	Hip dislocation	545	ATR	OMIM:210600
HP:0002827	Hip dislocation	64374	SIL1	ORPHA:559
HP:0002827	Hip dislocation	55644	OSGEP	OMIM:617729
HP:0002827	Hip dislocation	2313	FLI1	ORPHA:2308
HP:0002827	Hip dislocation	23476	BRD4	ORPHA:199
HP:0002827	Hip dislocation	9126	SMC3	ORPHA:199
HP:0002827	Hip dislocation	8243	SMC1A	ORPHA:199
HP:0002827	Hip dislocation	8243	SMC1A	ORPHA:220386
HP:0002827	Hip dislocation	6878	TAF6	ORPHA:199
HP:0002827	Hip dislocation	25836	NIPBL	ORPHA:199
HP:0002827	Hip dislocation	55869	HDAC8	ORPHA:199
HP:0002827	Hip dislocation	5885	RAD21	ORPHA:199
HP:0002827	Hip dislocation	538	ATP7A	ORPHA:198
HP:0002827	Hip dislocation	57003	CCDC47	OMIM:618268
HP:0002827	Hip dislocation	10526	IPO8	OMIM:619472
HP:0002827	Hip dislocation	1861	TOR1A	OMIM:618947
HP:0002827	Hip dislocation	23443	SLC35A3	OMIM:615553
HP:0002827	Hip dislocation	23443	SLC35A3	ORPHA:370943
HP:0002827	Hip dislocation	6608	SMO	OMIM:241800
HP:0002827	Hip dislocation	4796	TONSL	ORPHA:93357
HP:0002827	Hip dislocation	207	AKT1	ORPHA:744
HP:0002827	Hip dislocation	4000	LMNA	ORPHA:740
HP:0002827	Hip dislocation	10269	ZMPSTE24	ORPHA:740
HP:0002827	Hip dislocation	51360	MBTPS2	OMIM:308205
HP:0002827	Hip dislocation	8239	USP9X	OMIM:300968
HP:0002827	Hip dislocation	23233	EXOC6B	OMIM:618395
HP:0002827	Hip dislocation	113246	C12orf57	OMIM:218340
HP:0002827	Hip dislocation	126792	B3GALT6	OMIM:271640
HP:0002827	Hip dislocation	126792	B3GALT6	OMIM:615349
HP:0002827	Hip dislocation	284058	KANSL1	OMIM:610443
HP:0002827	Hip dislocation	92344	GORAB	ORPHA:2078
HP:0002827	Hip dislocation	10584	COLEC10	ORPHA:293843
HP:0002827	Hip dislocation	5648	MASP1	ORPHA:293843
HP:0002827	Hip dislocation	23299	BICD2	OMIM:618291
HP:0002827	Hip dislocation	9469	CHST3	OMIM:245600
HP:0002827	Hip dislocation	26229	B3GAT3	OMIM:245600
HP:0002827	Hip dislocation	6913	TBX15	OMIM:260660
HP:0002827	Hip dislocation	523	ATP6V1A	OMIM:617403
HP:0002827	Hip dislocation	3207	HOXA11	OMIM:605432
HP:0002827	Hip dislocation	9894	TELO2	ORPHA:488642
HP:0002827	Hip dislocation	57477	SHROOM4	ORPHA:85288
HP:0002827	Hip dislocation	2192	FBLN1	ORPHA:404451
HP:0002827	Hip dislocation	8218	CLTCL1	ORPHA:453510
HP:0008786	Iliac crest serration	2879	GPX4	ORPHA:93317
HP:0008786	Iliac crest serration	2879	GPX4	OMIM:250220
HP:0008786	Iliac crest serration	54808	DYM	OMIM:223800
HP:0008786	Iliac crest serration	54808	DYM	OMIM:607326
HP:0008786	Iliac crest serration	54808	DYM	ORPHA:239
HP:0008786	Iliac crest serration	51025	PAM16	OMIM:613320
HP:0008828	Delayed proximal femoral epiphyseal ossification	5626	PROP1	ORPHA:226307
HP:0008828	Delayed proximal femoral epiphyseal ossification	89884	LHX4	ORPHA:226307
HP:0008828	Delayed proximal femoral epiphyseal ossification	8022	LHX3	ORPHA:226307
HP:0008828	Delayed proximal femoral epiphyseal ossification	5449	POU1F1	ORPHA:226307
HP:0008828	Delayed proximal femoral epiphyseal ossification	8820	HESX1	ORPHA:226307
HP:0008828	Delayed proximal femoral epiphyseal ossification	405753	DUOXA2	ORPHA:95716
HP:0008828	Delayed proximal femoral epiphyseal ossification	6528	SLC5A5	ORPHA:95716
HP:0008828	Delayed proximal femoral epiphyseal ossification	7038	TG	ORPHA:95716
HP:0008828	Delayed proximal femoral epiphyseal ossification	7173	TPO	ORPHA:95716
HP:0008828	Delayed proximal femoral epiphyseal ossification	389434	IYD	ORPHA:95716
HP:0008828	Delayed proximal femoral epiphyseal ossification	50506	DUOX2	ORPHA:95716
HP:0008828	Delayed proximal femoral epiphyseal ossification	100151683	RNU4ATAC	ORPHA:353298
HP:0008828	Delayed proximal femoral epiphyseal ossification	1280	COL2A1	ORPHA:93296
HP:0008828	Delayed proximal femoral epiphyseal ossification	4148	MATN3	ORPHA:93311
HP:0008828	Delayed proximal femoral epiphyseal ossification	7253	TSHR	ORPHA:90673
HP:0008828	Delayed proximal femoral epiphyseal ossification	7252	TSHB	ORPHA:90674
HP:0008828	Delayed proximal femoral epiphyseal ossification	126792	B3GALT6	OMIM:271640
HP:0008788	Delayed pubic bone ossification	10804	GJB6	ORPHA:477
HP:0008788	Delayed pubic bone ossification	2706	GJB2	ORPHA:477
HP:0008788	Delayed pubic bone ossification	23387	SIK3	OMIM:618162
HP:0008788	Delayed pubic bone ossification	1280	COL2A1	OMIM:183900
HP:0008788	Delayed pubic bone ossification	1280	COL2A1	ORPHA:93296
HP:0008788	Delayed pubic bone ossification	1280	COL2A1	OMIM:184250
HP:0008788	Delayed pubic bone ossification	1280	COL2A1	ORPHA:1856
HP:0008788	Delayed pubic bone ossification	860	RUNX2	OMIM:119600
HP:0008788	Delayed pubic bone ossification	865	CBFB	OMIM:620099
HP:0008788	Delayed pubic bone ossification	579	NKX3-2	OMIM:613330
HP:0008829	Delayed femoral head ossification	1836	SLC26A2	ORPHA:93307
HP:0008829	Delayed femoral head ossification	54808	DYM	OMIM:607326
HP:0008822	Hypoplastic ischiopubic ramus	10060	ABCC9	OMIM:239850
HP:0008821	Hypoplastic inferior ilia	4125	MAN2B1	ORPHA:309282
HP:0008821	Hypoplastic inferior ilia	860	RUNX2	ORPHA:1452
HP:0008821	Hypoplastic inferior ilia	6662	SOX9	ORPHA:140
HP:0008821	Hypoplastic inferior ilia	5130	PCYT1A	OMIM:608940
HP:0008824	Hypoplastic iliac body	126792	B3GALT6	OMIM:615349
HP:0008824	Hypoplastic iliac body	126792	B3GALT6	OMIM:271640
HP:0008824	Hypoplastic iliac body	10940	POP1	OMIM:617396
HP:0008824	Hypoplastic iliac body	3977	LIFR	OMIM:601559
HP:0008824	Hypoplastic iliac body	2317	FLNB	OMIM:112310
HP:0008823	Inferior pubic ramus hypoplasia	23522	KAT6B	OMIM:606170
HP:0031703	Abnormal ear morphology	58499	ZNF462	ORPHA:502430
HP:0031703	Abnormal ear morphology	341640	FREM2	ORPHA:2052
HP:0031703	Abnormal ear morphology	80144	FRAS1	ORPHA:2052
HP:0031703	Abnormal ear morphology	23426	GRIP1	ORPHA:2052
HP:0031703	Abnormal ear morphology	23126	POGZ	OMIM:616364
HP:0031703	Abnormal ear morphology	23126	POGZ	ORPHA:468678
HP:0031703	Abnormal ear morphology	10743	RAI1	OMIM:182290
HP:0031703	Abnormal ear morphology	4659	PPP1R12A	OMIM:618820
HP:0031703	Abnormal ear morphology	23314	SATB2	ORPHA:251028
HP:0031703	Abnormal ear morphology	253738	EBF3	ORPHA:96148
HP:0031703	Abnormal ear morphology	2263	FGFR2	ORPHA:313855
HP:0031703	Abnormal ear morphology	81620	CDT1	ORPHA:2554
HP:0031703	Abnormal ear morphology	5000	ORC4	ORPHA:2554
HP:0031703	Abnormal ear morphology	23594	ORC6	ORPHA:2554
HP:0031703	Abnormal ear morphology	8318	CDC45	ORPHA:2554
HP:0031703	Abnormal ear morphology	990	CDC6	ORPHA:2554
HP:0031703	Abnormal ear morphology	4998	ORC1	ORPHA:2554
HP:0031703	Abnormal ear morphology	51053	GMNN	ORPHA:2554
HP:0031703	Abnormal ear morphology	26123	TCTN3	ORPHA:2753
HP:0031703	Abnormal ear morphology	2138	EYA1	ORPHA:107
HP:0031703	Abnormal ear morphology	2138	EYA1	ORPHA:52429
HP:0031703	Abnormal ear morphology	147912	SIX5	ORPHA:107
HP:0031703	Abnormal ear morphology	6495	SIX1	ORPHA:107
HP:0031703	Abnormal ear morphology	6495	SIX1	ORPHA:52429
HP:0031703	Abnormal ear morphology	2887	GRB10	ORPHA:96182
HP:0031703	Abnormal ear morphology	84172	POLR1B	ORPHA:861
HP:0031703	Abnormal ear morphology	9533	POLR1C	ORPHA:861
HP:0031703	Abnormal ear morphology	51082	POLR1D	ORPHA:861
HP:0031703	Abnormal ear morphology	6949	TCOF1	ORPHA:861
HP:0031703	Abnormal ear morphology	25942	SIN3A	ORPHA:94065
HP:0031703	Abnormal ear morphology	8621	CDK13	OMIM:617360
HP:0031703	Abnormal ear morphology	8085	KMT2D	ORPHA:2322
HP:0031703	Abnormal ear morphology	7403	KDM6A	ORPHA:2322
HP:0031703	Abnormal ear morphology	9968	MED12	ORPHA:2728
HP:0031703	Abnormal ear morphology	2132	EXT2	ORPHA:466926
HP:0031703	Abnormal ear morphology	9487	PIGL	ORPHA:3474
HP:0031703	Abnormal ear morphology	9343	EFTUD2	ORPHA:79113
HP:0031703	Abnormal ear morphology	26040	SETBP1	ORPHA:798
HP:0031703	Abnormal ear morphology	2187	FANCB	ORPHA:3412
HP:0031703	Abnormal ear morphology	134218	DNAJC21	ORPHA:811
HP:0031703	Abnormal ear morphology	79631	EFL1	ORPHA:811
HP:0031703	Abnormal ear morphology	51119	SBDS	ORPHA:811
HP:0031703	Abnormal ear morphology	8294	H4C9	OMIM:619951
HP:0031703	Abnormal ear morphology	2304	FOXE1	OMIM:241850
HP:0031703	Abnormal ear morphology	9853	RUSC2	OMIM:617773
HP:0031703	Abnormal ear morphology	6659	SOX4	OMIM:618506
HP:0031703	Abnormal ear morphology	51126	NAA20	OMIM:619717
HP:0031703	Abnormal ear morphology	10973	ASCC3	OMIM:620700
HP:0031703	Abnormal ear morphology	4897	NRCAM	OMIM:619833
HP:0031703	Abnormal ear morphology	79848	CSPP1	ORPHA:397715
HP:0031703	Abnormal ear morphology	79848	CSPP1	ORPHA:564
HP:0031703	Abnormal ear morphology	9786	KIAA0586	ORPHA:397715
HP:0031703	Abnormal ear morphology	3020	H3-3A	OMIM:619720
HP:0031703	Abnormal ear morphology	80816	ASXL3	OMIM:615485
HP:0031703	Abnormal ear morphology	23322	RPGRIP1L	ORPHA:220497
HP:0031703	Abnormal ear morphology	23322	RPGRIP1L	ORPHA:564
HP:0031703	Abnormal ear morphology	65062	TMEM237	ORPHA:220497
HP:0031703	Abnormal ear morphology	65062	TMEM237	ORPHA:564
HP:0031703	Abnormal ear morphology	65062	TMEM237	OMIM:614424
HP:0031703	Abnormal ear morphology	65062	TMEM237	ORPHA:2318
HP:0031703	Abnormal ear morphology	72	ACTG2	ORPHA:2604
HP:0031703	Abnormal ear morphology	56623	INPP5E	ORPHA:220493
HP:0031703	Abnormal ear morphology	95681	CEP41	ORPHA:220493
HP:0031703	Abnormal ear morphology	129563	DIS3L2	ORPHA:2849
HP:0031703	Abnormal ear morphology	4286	MITF	OMIM:617306
HP:0031703	Abnormal ear morphology	64359	NXN	OMIM:618529
HP:0031703	Abnormal ear morphology	64359	NXN	ORPHA:1507
HP:0031703	Abnormal ear morphology	7994	KAT6A	ORPHA:457193
HP:0031703	Abnormal ear morphology	7994	KAT6A	OMIM:616268
HP:0031703	Abnormal ear morphology	171023	ASXL1	ORPHA:97297
HP:0031703	Abnormal ear morphology	171023	ASXL1	OMIM:605039
HP:0031703	Abnormal ear morphology	1501	CTNND2	ORPHA:281
HP:0031703	Abnormal ear morphology	9037	SEMA5A	ORPHA:281
HP:0031703	Abnormal ear morphology	55012	PPP2R3C	OMIM:618419
HP:0031703	Abnormal ear morphology	200734	SPRED2	OMIM:619745
HP:0031703	Abnormal ear morphology	200734	SPRED2	ORPHA:648
HP:0031703	Abnormal ear morphology	4929	NR4A2	ORPHA:1617
HP:0031703	Abnormal ear morphology	10716	TBR1	ORPHA:1617
HP:0031703	Abnormal ear morphology	8493	PPM1D	OMIM:617450
HP:0031703	Abnormal ear morphology	3572	IL6ST	OMIM:619750
HP:0031703	Abnormal ear morphology	79796	ALG9	ORPHA:79328
HP:0031703	Abnormal ear morphology	79796	ALG9	OMIM:263210
HP:0031703	Abnormal ear morphology	6942	TCF20	OMIM:618430
HP:0031703	Abnormal ear morphology	9772	TMEM94	OMIM:618316
HP:0031703	Abnormal ear morphology	7030	TFE3	OMIM:301066
HP:0031703	Abnormal ear morphology	64919	BCL11B	OMIM:617237
HP:0031703	Abnormal ear morphology	4087	SMAD2	OMIM:619657
HP:0031703	Abnormal ear morphology	4733	DRG1	OMIM:620641
HP:0031703	Abnormal ear morphology	5081	PAX7	OMIM:618578
HP:0031703	Abnormal ear morphology	5908	RAP1B	OMIM:620654
HP:0031703	Abnormal ear morphology	164	AP1G1	OMIM:619548
HP:0031703	Abnormal ear morphology	6654	SOS1	OMIM:610733
HP:0031703	Abnormal ear morphology	6654	SOS1	ORPHA:648
HP:0031703	Abnormal ear morphology	835	CASP2	OMIM:620653
HP:0031703	Abnormal ear morphology	78987	CRELD1	OMIM:620771
HP:0031703	Abnormal ear morphology	2879	GPX4	OMIM:250220
HP:0031703	Abnormal ear morphology	84706	GPT2	OMIM:616281
HP:0031703	Abnormal ear morphology	5898	RALA	OMIM:619311
HP:0031703	Abnormal ear morphology	10466	COG5	ORPHA:263487
HP:0031703	Abnormal ear morphology	4598	MVK	ORPHA:29
HP:0031703	Abnormal ear morphology	4598	MVK	OMIM:610377
HP:0031703	Abnormal ear morphology	50814	NSDHL	ORPHA:251383
HP:0031703	Abnormal ear morphology	50814	NSDHL	OMIM:300831
HP:0031703	Abnormal ear morphology	56945	MRPS22	OMIM:611719
HP:0031703	Abnormal ear morphology	128869	PIGU	OMIM:618590
HP:0031703	Abnormal ear morphology	5575	PRKAR1B	OMIM:619680
HP:0031703	Abnormal ear morphology	7372	UMPS	ORPHA:30
HP:0031703	Abnormal ear morphology	7707	ZNF148	OMIM:617260
HP:0031703	Abnormal ear morphology	6647	SOD1	OMIM:618598
HP:0031703	Abnormal ear morphology	23524	SRRM2	OMIM:620439
HP:0031703	Abnormal ear morphology	176	ACAN	OMIM:612813
HP:0031703	Abnormal ear morphology	176	ACAN	ORPHA:171866
HP:0031703	Abnormal ear morphology	3039	HBA1	ORPHA:98791
HP:0031703	Abnormal ear morphology	3040	HBA2	ORPHA:98791
HP:0031703	Abnormal ear morphology	1009	CDH11	OMIM:211380
HP:0031703	Abnormal ear morphology	5077	PAX3	OMIM:148820
HP:0031703	Abnormal ear morphology	22827	PUF60	ORPHA:508488
HP:0031703	Abnormal ear morphology	84314	TMEM107	ORPHA:564
HP:0031703	Abnormal ear morphology	79867	TCTN2	ORPHA:564
HP:0031703	Abnormal ear morphology	79600	TCTN1	ORPHA:564
HP:0031703	Abnormal ear morphology	57096	RPGRIP1	ORPHA:564
HP:0031703	Abnormal ear morphology	79770	TXNDC15	ORPHA:564
HP:0031703	Abnormal ear morphology	27077	B9D1	ORPHA:564
HP:0031703	Abnormal ear morphology	63931	MRPS14	OMIM:618378
HP:0031703	Abnormal ear morphology	22808	MRAS	OMIM:618499
HP:0031703	Abnormal ear morphology	22808	MRAS	ORPHA:648
HP:0031703	Abnormal ear morphology	1822	ATN1	OMIM:618494
HP:0031703	Abnormal ear morphology	5144	PDE4D	ORPHA:439822
HP:0031703	Abnormal ear morphology	6304	SATB1	OMIM:619229
HP:0031703	Abnormal ear morphology	55605	KIF21A	ORPHA:994
HP:0031703	Abnormal ear morphology	4927	NUP88	ORPHA:994
HP:0031703	Abnormal ear morphology	4927	NUP88	OMIM:618393
HP:0031703	Abnormal ear morphology	7846	TUBA1A	ORPHA:994
HP:0031703	Abnormal ear morphology	4654	MYOD1	ORPHA:994
HP:0031703	Abnormal ear morphology	54551	MAGEL2	ORPHA:994
HP:0031703	Abnormal ear morphology	4593	MUSK	ORPHA:994
HP:0031703	Abnormal ear morphology	4593	MUSK	OMIM:208150
HP:0031703	Abnormal ear morphology	5913	RAPSN	ORPHA:994
HP:0031703	Abnormal ear morphology	6572	SLC18A3	ORPHA:994
HP:0031703	Abnormal ear morphology	285489	DOK7	ORPHA:994
HP:0031703	Abnormal ear morphology	5015	OTX2	ORPHA:990
HP:0031703	Abnormal ear morphology	8812	CCNK	OMIM:618147
HP:0031703	Abnormal ear morphology	94005	PIGS	OMIM:618143
HP:0031703	Abnormal ear morphology	26005	C2CD3	ORPHA:434179
HP:0031703	Abnormal ear morphology	26005	C2CD3	OMIM:615948
HP:0031703	Abnormal ear morphology	5894	RAF1	ORPHA:500
HP:0031703	Abnormal ear morphology	5894	RAF1	ORPHA:648
HP:0031703	Abnormal ear morphology	3636	INPPL1	OMIM:258480
HP:0031703	Abnormal ear morphology	8239	USP9X	OMIM:300968
HP:0031703	Abnormal ear morphology	8239	USP9X	ORPHA:480880
HP:0031703	Abnormal ear morphology	9373	PLAA	ORPHA:521426
HP:0031703	Abnormal ear morphology	9373	PLAA	OMIM:617527
HP:0031703	Abnormal ear morphology	64093	SMOC1	OMIM:206920
HP:0031703	Abnormal ear morphology	64093	SMOC1	ORPHA:1106
HP:0031703	Abnormal ear morphology	118924	FRA10AC1	OMIM:620113
HP:0031703	Abnormal ear morphology	22800	RRAS2	ORPHA:648
HP:0031703	Abnormal ear morphology	8216	LZTR1	ORPHA:648
HP:0031703	Abnormal ear morphology	8216	LZTR1	OMIM:605275
HP:0031703	Abnormal ear morphology	6016	RIT1	ORPHA:648
HP:0031703	Abnormal ear morphology	6237	RRAS	ORPHA:648
HP:0031703	Abnormal ear morphology	4893	NRAS	ORPHA:648
HP:0031703	Abnormal ear morphology	4893	NRAS	OMIM:613224
HP:0031703	Abnormal ear morphology	6655	SOS2	ORPHA:648
HP:0031703	Abnormal ear morphology	5922	RASA2	ORPHA:648
HP:0031703	Abnormal ear morphology	83737	ITCH	ORPHA:228426
HP:0031703	Abnormal ear morphology	83737	ITCH	OMIM:613385
HP:0031703	Abnormal ear morphology	7474	WNT5A	OMIM:180700
HP:0031703	Abnormal ear morphology	7474	WNT5A	ORPHA:3107
HP:0031703	Abnormal ear morphology	3239	HOXD13	ORPHA:887
HP:0031703	Abnormal ear morphology	8665	EIF3F	OMIM:618295
HP:0031703	Abnormal ear morphology	90952	ESAM	OMIM:620371
HP:0031703	Abnormal ear morphology	4281	MID1	OMIM:300000
HP:0031703	Abnormal ear morphology	4281	MID1	ORPHA:2745
HP:0031703	Abnormal ear morphology	1717	DHCR7	ORPHA:818
HP:0031703	Abnormal ear morphology	1717	DHCR7	OMIM:270400
HP:0031703	Abnormal ear morphology	55780	ERMARD	ORPHA:75857
HP:0031703	Abnormal ear morphology	5119	CHMP1A	OMIM:614961
HP:0031703	Abnormal ear morphology	55858	TMEM165	OMIM:614727
HP:0031703	Abnormal ear morphology	8546	AP3B1	OMIM:608233
HP:0031703	Abnormal ear morphology	23116	TOGARAM1	OMIM:619185
HP:0031703	Abnormal ear morphology	9184	BUB3	ORPHA:1052
HP:0031703	Abnormal ear morphology	699	BUB1	ORPHA:1052
HP:0031703	Abnormal ear morphology	9319	TRIP13	ORPHA:1052
HP:0031703	Abnormal ear morphology	701	BUB1B	ORPHA:1052
HP:0031703	Abnormal ear morphology	701	BUB1B	OMIM:257300
HP:0031703	Abnormal ear morphology	4036	LRP2	ORPHA:2143
HP:0031703	Abnormal ear morphology	4036	LRP2	OMIM:222448
HP:0031703	Abnormal ear morphology	9653	HS2ST1	OMIM:619194
HP:0031703	Abnormal ear morphology	56006	SMG9	OMIM:616920
HP:0031703	Abnormal ear morphology	1857	DVL3	ORPHA:3107
HP:0031703	Abnormal ear morphology	2535	FZD2	ORPHA:3107
HP:0031703	Abnormal ear morphology	2535	FZD2	OMIM:164745
HP:0031703	Abnormal ear morphology	6660	SOX5	OMIM:616803
HP:0031703	Abnormal ear morphology	285175	UNC80	OMIM:616801
HP:0031703	Abnormal ear morphology	285175	UNC80	ORPHA:371364
HP:0031703	Abnormal ear morphology	3211	HOXB1	OMIM:614744
HP:0031703	Abnormal ear morphology	54499	TMCO1	OMIM:213980
HP:0031703	Abnormal ear morphology	54499	TMCO1	ORPHA:1394
HP:0031703	Abnormal ear morphology	11128	POLR3A	OMIM:264090
HP:0031703	Abnormal ear morphology	11128	POLR3A	ORPHA:3455
HP:0031703	Abnormal ear morphology	8379	MAD1L1	OMIM:620189
HP:0031703	Abnormal ear morphology	23483	TGDS	ORPHA:1388
HP:0031703	Abnormal ear morphology	9939	RBM8A	ORPHA:3320
HP:0031703	Abnormal ear morphology	6664	SOX11	OMIM:615866
HP:0031703	Abnormal ear morphology	55906	ZC4H2	OMIM:301041
HP:0031703	Abnormal ear morphology	2733	GLE1	ORPHA:1486
HP:0031703	Abnormal ear morphology	55593	OTUD5	OMIM:301056
HP:0031703	Abnormal ear morphology	5859	QARS1	OMIM:615760
HP:0031703	Abnormal ear morphology	84162	BLTP1	OMIM:617822
HP:0031703	Abnormal ear morphology	2782	GNB1	OMIM:616973
HP:0031703	Abnormal ear morphology	998	CDC42	OMIM:616737
HP:0031703	Abnormal ear morphology	998	CDC42	ORPHA:487796
HP:0031703	Abnormal ear morphology	134701	RIPPLY2	ORPHA:2311
HP:0031703	Abnormal ear morphology	10683	DLL3	ORPHA:2311
HP:0031703	Abnormal ear morphology	3955	LFNG	ORPHA:2311
HP:0031703	Abnormal ear morphology	84667	HES7	ORPHA:2311
HP:0031703	Abnormal ear morphology	145873	MESP2	ORPHA:2311
HP:0031703	Abnormal ear morphology	51524	TMEM138	ORPHA:2318
HP:0031703	Abnormal ear morphology	23090	ZNF423	ORPHA:2318
HP:0031703	Abnormal ear morphology	1000	CDH2	OMIM:618929
HP:0031703	Abnormal ear morphology	2313	FLI1	ORPHA:2308
HP:0031703	Abnormal ear morphology	158326	FREM1	OMIM:608980
HP:0031703	Abnormal ear morphology	8929	PHOX2B	OMIM:209880
HP:0031703	Abnormal ear morphology	25914	RTTN	ORPHA:468631
HP:0031703	Abnormal ear morphology	202018	TAPT1	OMIM:616897
HP:0031703	Abnormal ear morphology	28957	MRPS28	OMIM:618958
HP:0031703	Abnormal ear morphology	2273	FHL1	OMIM:300280
HP:0031703	Abnormal ear morphology	5495	PPM1B	ORPHA:163693
HP:0031703	Abnormal ear morphology	6519	SLC3A1	ORPHA:163693
HP:0031703	Abnormal ear morphology	9581	PREPL	ORPHA:163693
HP:0031703	Abnormal ear morphology	79823	CAMKMT	ORPHA:163693
HP:0031703	Abnormal ear morphology	1376	CPT2	OMIM:608836
HP:0031703	Abnormal ear morphology	126792	B3GALT6	ORPHA:536467
HP:0031703	Abnormal ear morphology	59341	TRPV4	ORPHA:2635
HP:0031703	Abnormal ear morphology	8777	MPDZ	OMIM:615219
HP:0031703	Abnormal ear morphology	170692	ADAMTS18	OMIM:615458
HP:0031703	Abnormal ear morphology	9757	KMT2B	OMIM:619934
HP:0031703	Abnormal ear morphology	1302	COL11A2	ORPHA:1427
HP:0031703	Abnormal ear morphology	64131	XYLT1	ORPHA:1425
HP:0031703	Abnormal ear morphology	124583	CANT1	ORPHA:1425
HP:0031703	Abnormal ear morphology	55790	CSGALNACT1	ORPHA:1425
HP:0031703	Abnormal ear morphology	29071	C1GALT1C1	OMIM:301110
HP:0031703	Abnormal ear morphology	23404	EXOSC2	OMIM:617763
HP:0031703	Abnormal ear morphology	10736	SIX2	ORPHA:488437
HP:0031703	Abnormal ear morphology	10082	GPC6	ORPHA:93329
HP:0031703	Abnormal ear morphology	6736	SRY	ORPHA:1772
HP:0031703	Abnormal ear morphology	8626	TP63	ORPHA:1896
HP:0031703	Abnormal ear morphology	7399	USH2A	ORPHA:231178
HP:0031703	Abnormal ear morphology	79955	PDZD7	ORPHA:231178
HP:0031703	Abnormal ear morphology	4647	MYO7A	ORPHA:231178
HP:0031703	Abnormal ear morphology	25861	WHRN	ORPHA:231178
HP:0031703	Abnormal ear morphology	84059	ADGRV1	ORPHA:231178
HP:0031703	Abnormal ear morphology	3766	KCNJ10	ORPHA:705
HP:0031703	Abnormal ear morphology	2299	FOXI1	ORPHA:705
HP:0031703	Abnormal ear morphology	5172	SLC26A4	ORPHA:705
HP:0031703	Abnormal ear morphology	55636	CHD7	ORPHA:138
HP:0031703	Abnormal ear morphology	9723	SEMA3E	ORPHA:138
HP:0031703	Abnormal ear morphology	1277	COL1A1	OMIM:166220
HP:0031703	Abnormal ear morphology	1277	COL1A1	OMIM:166200
HP:0031703	Abnormal ear morphology	6597	SMARCA4	OMIM:620792
HP:0031703	Abnormal ear morphology	4247	MGAT2	ORPHA:79329
HP:0031703	Abnormal ear morphology	1718	DHCR24	ORPHA:35107
HP:0031703	Abnormal ear morphology	613	BCR	ORPHA:261330
HP:0031703	Abnormal ear morphology	1399	CRKL	ORPHA:261330
HP:0031703	Abnormal ear morphology	5594	MAPK1	ORPHA:261330
HP:0031703	Abnormal ear morphology	57061	HYMAI	ORPHA:96191
HP:0031703	Abnormal ear morphology	5325	PLAGL1	ORPHA:96191
HP:0031703	Abnormal ear morphology	5879	RAC1	ORPHA:500159
HP:0031703	Abnormal ear morphology	1062	CENPE	ORPHA:808
HP:0031703	Abnormal ear morphology	5116	PCNT	ORPHA:808
HP:0031703	Abnormal ear morphology	5932	RBBP8	ORPHA:808
HP:0031703	Abnormal ear morphology	79902	NUP85	ORPHA:808
HP:0031703	Abnormal ear morphology	84126	ATRIP	ORPHA:808
HP:0031703	Abnormal ear morphology	10293	TRAIP	ORPHA:808
HP:0031703	Abnormal ear morphology	1763	DNA2	ORPHA:808
HP:0031703	Abnormal ear morphology	22995	CEP152	ORPHA:808
HP:0031703	Abnormal ear morphology	10733	PLK4	ORPHA:808
HP:0031703	Abnormal ear morphology	54539	NDUFB11	ORPHA:2556
HP:0031703	Abnormal ear morphology	1349	COX7B	ORPHA:2556
HP:0031703	Abnormal ear morphology	3052	HCCS	ORPHA:2556
HP:0031703	Abnormal ear morphology	28981	IFT81	OMIM:617895
HP:0031703	Abnormal ear morphology	7360	UGP2	OMIM:618744
HP:0031703	Abnormal ear morphology	5927	KDM5A	OMIM:620820
HP:0031703	Abnormal ear morphology	51	ACOX1	ORPHA:2971
HP:0031703	Abnormal ear morphology	51	ACOX1	OMIM:264470
HP:0031703	Abnormal ear morphology	55209	SETD5	ORPHA:404440
HP:0031703	Abnormal ear morphology	55209	SETD5	OMIM:615761
HP:0031703	Abnormal ear morphology	2073	ERCC5	OMIM:616570
HP:0031703	Abnormal ear morphology	9578	CDC42BPB	OMIM:619841
HP:0031703	Abnormal ear morphology	8942	KYNU	OMIM:617661
HP:0031703	Abnormal ear morphology	283489	CHAMP1	OMIM:616579
HP:0031703	Abnormal ear morphology	10606	PAICS	OMIM:619859
HP:0031703	Abnormal ear morphology	81857	MED25	ORPHA:464738
HP:0031703	Abnormal ear morphology	81857	MED25	OMIM:616449
HP:0031703	Abnormal ear morphology	55681	SCYL2	OMIM:618766
HP:0031703	Abnormal ear morphology	857	CAV1	OMIM:606721
HP:0031703	Abnormal ear morphology	64121	RRAGC	OMIM:620609
HP:0031703	Abnormal ear morphology	11285	B4GALT7	OMIM:130070
HP:0031703	Abnormal ear morphology	55768	NGLY1	OMIM:615273
HP:0031703	Abnormal ear morphology	5593	PRKG2	OMIM:619636
HP:0031703	Abnormal ear morphology	8516	ITGA8	ORPHA:1848
HP:0031703	Abnormal ear morphology	8516	ITGA8	OMIM:191830
HP:0031703	Abnormal ear morphology	26281	FGF20	ORPHA:1848
HP:0031703	Abnormal ear morphology	2674	GFRA1	ORPHA:1848
HP:0031703	Abnormal ear morphology	7484	WNT9B	ORPHA:1848
HP:0031703	Abnormal ear morphology	80000	GREB1L	ORPHA:1848
HP:0031703	Abnormal ear morphology	253959	RALGAPA1	OMIM:618797
HP:0031703	Abnormal ear morphology	56098	PCDHGC4	OMIM:619880
HP:0031703	Abnormal ear morphology	57688	ZSWIM6	OMIM:603671
HP:0031703	Abnormal ear morphology	3930	LBR	OMIM:215140
HP:0031703	Abnormal ear morphology	54916	TMEM260	OMIM:617478
HP:0031703	Abnormal ear morphology	23499	MACF1	OMIM:618325
HP:0031703	Abnormal ear morphology	1917	EEF1A2	OMIM:616393
HP:0031703	Abnormal ear morphology	60529	ALX4	ORPHA:228390
HP:0031703	Abnormal ear morphology	60529	ALX4	OMIM:613451
HP:0031703	Abnormal ear morphology	1523	CUX1	OMIM:618330
HP:0031703	Abnormal ear morphology	4212	MEIS2	ORPHA:261190
HP:0031703	Abnormal ear morphology	4212	MEIS2	OMIM:600987
HP:0031703	Abnormal ear morphology	5910	RAP1GDS1	OMIM:620655
HP:0031703	Abnormal ear morphology	51574	LARP7	OMIM:615071
HP:0031703	Abnormal ear morphology	51574	LARP7	ORPHA:319671
HP:0031703	Abnormal ear morphology	8473	OGT	OMIM:300997
HP:0031703	Abnormal ear morphology	54973	INTS11	OMIM:620428
HP:0031703	Abnormal ear morphology	4703	NEB	OMIM:256030
HP:0031703	Abnormal ear morphology	4703	NEB	ORPHA:171433
HP:0031703	Abnormal ear morphology	4703	NEB	ORPHA:171430
HP:0031703	Abnormal ear morphology	2972	BRF1	ORPHA:444072
HP:0031703	Abnormal ear morphology	2972	BRF1	OMIM:616202
HP:0031703	Abnormal ear morphology	91754	NEK9	OMIM:617022
HP:0031703	Abnormal ear morphology	5649	RELN	ORPHA:89844
HP:0031703	Abnormal ear morphology	114803	MYSM1	OMIM:618116
HP:0031703	Abnormal ear morphology	9675	TTI1	OMIM:620445
HP:0031703	Abnormal ear morphology	11145	PLAAT3	OMIM:620683
HP:0031703	Abnormal ear morphology	23111	SPART	ORPHA:101000
HP:0031703	Abnormal ear morphology	51729	WBP11	OMIM:619227
HP:0031703	Abnormal ear morphology	79736	TEFM	OMIM:620451
HP:0031703	Abnormal ear morphology	50801	KCNK4	OMIM:618381
HP:0031703	Abnormal ear morphology	8567	MADD	OMIM:619004
HP:0031703	Abnormal ear morphology	91875	TTC5	OMIM:619244
HP:0031703	Abnormal ear morphology	2799	GNS	OMIM:252940
HP:0031703	Abnormal ear morphology	199221	DZIP1L	ORPHA:731
HP:0031703	Abnormal ear morphology	5314	PKHD1	ORPHA:731
HP:0031703	Abnormal ear morphology	84231	TRAF7	OMIM:618164
HP:0031703	Abnormal ear morphology	10020	GNE	ORPHA:3166
HP:0031703	Abnormal ear morphology	10020	GNE	OMIM:269921
HP:0031703	Abnormal ear morphology	9897	WASHC5	ORPHA:7
HP:0031703	Abnormal ear morphology	9897	WASHC5	OMIM:220210
HP:0031703	Abnormal ear morphology	28952	CCDC22	ORPHA:7
HP:0031703	Abnormal ear morphology	57020	VPS35L	ORPHA:7
HP:0031703	Abnormal ear morphology	51626	DYNC2LI1	OMIM:617088
HP:0031703	Abnormal ear morphology	118429	ANTXR2	OMIM:228600
HP:0031703	Abnormal ear morphology	168667	BMPER	OMIM:608022
HP:0031703	Abnormal ear morphology	2294	FOXF1	OMIM:265380
HP:0031703	Abnormal ear morphology	5393	EXOSC9	OMIM:618065
HP:0031703	Abnormal ear morphology	26153	KIF26A	OMIM:620156
HP:0031703	Abnormal ear morphology	1801	DPH1	OMIM:616901
HP:0031703	Abnormal ear morphology	1801	DPH1	ORPHA:459061
HP:0031703	Abnormal ear morphology	93627	TBCK	OMIM:616900
HP:0031703	Abnormal ear morphology	1509	CTSD	OMIM:610127
HP:0031703	Abnormal ear morphology	23325	WASHC4	OMIM:615817
HP:0031703	Abnormal ear morphology	55148	UBR7	OMIM:619189
HP:0031703	Abnormal ear morphology	23545	ATP6V0A2	OMIM:278250
HP:0031703	Abnormal ear morphology	23545	ATP6V0A2	OMIM:219200
HP:0031703	Abnormal ear morphology	23545	ATP6V0A2	ORPHA:2834
HP:0031703	Abnormal ear morphology	23545	ATP6V0A2	ORPHA:357074
HP:0031703	Abnormal ear morphology	1028	CDKN1C	OMIM:614732
HP:0031703	Abnormal ear morphology	1028	CDKN1C	ORPHA:85173
HP:0031703	Abnormal ear morphology	1028	CDKN1C	ORPHA:397590
HP:0031703	Abnormal ear morphology	63894	VIPAS39	OMIM:613404
HP:0031703	Abnormal ear morphology	79053	ALG8	OMIM:608104
HP:0031703	Abnormal ear morphology	79053	ALG8	ORPHA:79325
HP:0031703	Abnormal ear morphology	54084	TSPEAR	OMIM:620173
HP:0031703	Abnormal ear morphology	10801	SEPTIN9	OMIM:162100
HP:0031703	Abnormal ear morphology	26053	AUTS2	OMIM:615834
HP:0031703	Abnormal ear morphology	26053	AUTS2	ORPHA:352490
HP:0031703	Abnormal ear morphology	10013	HDAC6	ORPHA:163966
HP:0031703	Abnormal ear morphology	10013	HDAC6	OMIM:300863
HP:0031703	Abnormal ear morphology	158	ADSL	ORPHA:46
HP:0031703	Abnormal ear morphology	158	ADSL	OMIM:103050
HP:0031703	Abnormal ear morphology	64116	SLC39A8	ORPHA:468699
HP:0031703	Abnormal ear morphology	4208	MEF2C	OMIM:613443
HP:0031703	Abnormal ear morphology	7407	VARS1	OMIM:617802
HP:0031703	Abnormal ear morphology	10535	RNASEH2A	ORPHA:51
HP:0031703	Abnormal ear morphology	10535	RNASEH2A	OMIM:610333
HP:0031703	Abnormal ear morphology	84153	RNASEH2C	ORPHA:51
HP:0031703	Abnormal ear morphology	25939	SAMHD1	ORPHA:51
HP:0031703	Abnormal ear morphology	79621	RNASEH2B	ORPHA:51
HP:0031703	Abnormal ear morphology	103	ADAR	ORPHA:51
HP:0031703	Abnormal ear morphology	11277	TREX1	ORPHA:51
HP:0031703	Abnormal ear morphology	100147744	RNU7-1	ORPHA:51
HP:0031703	Abnormal ear morphology	134353	LSM11	ORPHA:51
HP:0031703	Abnormal ear morphology	64135	IFIH1	ORPHA:51
HP:0031703	Abnormal ear morphology	10159	ATP6AP2	OMIM:301045
HP:0031703	Abnormal ear morphology	91949	COG7	OMIM:608779
HP:0031703	Abnormal ear morphology	27238	GPKOW	ORPHA:2570
HP:0031703	Abnormal ear morphology	22856	CHSY1	ORPHA:363417
HP:0031703	Abnormal ear morphology	1305	COL13A1	OMIM:616720
HP:0031703	Abnormal ear morphology	1305	COL13A1	ORPHA:98914
HP:0031703	Abnormal ear morphology	83479	DDX59	OMIM:174300
HP:0031703	Abnormal ear morphology	169792	GLIS3	OMIM:610199
HP:0031703	Abnormal ear morphology	79644	SRD5A3	OMIM:612379
HP:0031703	Abnormal ear morphology	7547	ZIC3	OMIM:306955
HP:0031703	Abnormal ear morphology	57211	ADGRG6	OMIM:616503
HP:0031703	Abnormal ear morphology	3759	KCNJ2	OMIM:170390
HP:0031703	Abnormal ear morphology	3759	KCNJ2	ORPHA:37553
HP:0031703	Abnormal ear morphology	5745	PTH1R	ORPHA:50945
HP:0031703	Abnormal ear morphology	8985	PLOD3	OMIM:612394
HP:0031703	Abnormal ear morphology	55969	RAB5IF	OMIM:616994
HP:0031703	Abnormal ear morphology	4758	NEU1	ORPHA:93400
HP:0031703	Abnormal ear morphology	4758	NEU1	ORPHA:93399
HP:0031703	Abnormal ear morphology	9997	SCO2	OMIM:604377
HP:0031703	Abnormal ear morphology	2517	FUCA1	OMIM:230000
HP:0031703	Abnormal ear morphology	6182	MRPL12	OMIM:618951
HP:0031703	Abnormal ear morphology	60482	SLC5A7	ORPHA:98914
HP:0031703	Abnormal ear morphology	4649	MYO9A	ORPHA:98914
HP:0031703	Abnormal ear morphology	1103	CHAT	ORPHA:98914
HP:0031703	Abnormal ear morphology	6576	SLC25A1	ORPHA:98914
HP:0031703	Abnormal ear morphology	6843	VAMP1	ORPHA:98914
HP:0031703	Abnormal ear morphology	375790	AGRN	ORPHA:98914
HP:0031703	Abnormal ear morphology	127833	SYT2	ORPHA:98914
HP:0031703	Abnormal ear morphology	6616	SNAP25	ORPHA:98914
HP:0031703	Abnormal ear morphology	84628	NTNG2	OMIM:618718
HP:0031703	Abnormal ear morphology	9321	TRIP11	OMIM:200600
HP:0031703	Abnormal ear morphology	84700	MYO18B	OMIM:616549
HP:0031703	Abnormal ear morphology	529	ATP6V1E1	OMIM:617402
HP:0031703	Abnormal ear morphology	529	ATP6V1E1	ORPHA:357074
HP:0031703	Abnormal ear morphology	84148	KAT8	OMIM:618974
HP:0031703	Abnormal ear morphology	3762	KCNJ5	ORPHA:37553
HP:0031703	Abnormal ear morphology	10617	STAMBP	OMIM:614261
HP:0031703	Abnormal ear morphology	8367	H4C5	OMIM:619950
HP:0031703	Abnormal ear morphology	64220	STRA6	OMIM:601186
HP:0031703	Abnormal ear morphology	64220	STRA6	ORPHA:2470
HP:0031703	Abnormal ear morphology	65267	WNK3	OMIM:309610
HP:0031703	Abnormal ear morphology	6536	SLC6A9	OMIM:617301
HP:0031703	Abnormal ear morphology	28960	DCPS	OMIM:616459
HP:0031703	Abnormal ear morphology	54	ACP5	OMIM:607944
HP:0031703	Abnormal ear morphology	55870	ASH1L	OMIM:617796
HP:0031703	Abnormal ear morphology	9698	PUM1	OMIM:620719
HP:0031703	Abnormal ear morphology	9698	PUM1	OMIM:617931
HP:0031703	Abnormal ear morphology	10381	TUBB3	ORPHA:300570
HP:0031703	Abnormal ear morphology	79184	BRCC3	ORPHA:280679
HP:0031703	Abnormal ear morphology	54968	TMEM70	OMIM:614052
HP:0031703	Abnormal ear morphology	54968	TMEM70	ORPHA:1194
HP:0031703	Abnormal ear morphology	22884	WDR37	OMIM:618652
HP:0031703	Abnormal ear morphology	1656	DDX6	OMIM:618653
HP:0031703	Abnormal ear morphology	4297	KMT2A	ORPHA:319182
HP:0031703	Abnormal ear morphology	4297	KMT2A	OMIM:605130
HP:0031703	Abnormal ear morphology	57178	ZMIZ1	OMIM:618659
HP:0031703	Abnormal ear morphology	55623	THUMPD1	OMIM:619989
HP:0031703	Abnormal ear morphology	51684	SUFU	ORPHA:475
HP:0031703	Abnormal ear morphology	200894	ARL13B	ORPHA:475
HP:0031703	Abnormal ear morphology	9731	CEP104	ORPHA:475
HP:0031703	Abnormal ear morphology	23247	KATNIP	ORPHA:475
HP:0031703	Abnormal ear morphology	219854	TMEM218	ORPHA:475
HP:0031703	Abnormal ear morphology	10464	PIBF1	ORPHA:475
HP:0031703	Abnormal ear morphology	80210	ARMC9	ORPHA:475
HP:0031703	Abnormal ear morphology	25776	CBY1	ORPHA:475
HP:0031703	Abnormal ear morphology	1789	DNMT3B	OMIM:242860
HP:0031703	Abnormal ear morphology	1789	DNMT3B	ORPHA:2268
HP:0031703	Abnormal ear morphology	51604	PIGT	OMIM:615398
HP:0031703	Abnormal ear morphology	51604	PIGT	ORPHA:369837
HP:0031703	Abnormal ear morphology	7862	BRPF1	OMIM:617333
HP:0031703	Abnormal ear morphology	5048	PAFAH1B1	ORPHA:217385
HP:0031703	Abnormal ear morphology	7531	YWHAE	ORPHA:217385
HP:0031703	Abnormal ear morphology	9681	DEPDC5	OMIM:620504
HP:0031703	Abnormal ear morphology	1660	DHX9	OMIM:620988
HP:0031703	Abnormal ear morphology	9841	ZBTB24	OMIM:614069
HP:0031703	Abnormal ear morphology	9841	ZBTB24	ORPHA:2268
HP:0031703	Abnormal ear morphology	8364	H4C3	OMIM:619758
HP:0031703	Abnormal ear morphology	93986	FOXP2	ORPHA:251061
HP:0031703	Abnormal ear morphology	8314	BAP1	OMIM:619762
HP:0031703	Abnormal ear morphology	51098	IFT52	OMIM:617102
HP:0031703	Abnormal ear morphology	9928	KIF14	OMIM:616258
HP:0031703	Abnormal ear morphology	2542	SLC37A4	OMIM:619525
HP:0031703	Abnormal ear morphology	2683	B4GALT1	ORPHA:79332
HP:0031703	Abnormal ear morphology	57724	EPG5	OMIM:242840
HP:0031703	Abnormal ear morphology	85365	ALG2	OMIM:607906
HP:0031703	Abnormal ear morphology	1107	CHD3	OMIM:618205
HP:0031703	Abnormal ear morphology	29929	ALG6	ORPHA:79320
HP:0031703	Abnormal ear morphology	3658	IREB2	OMIM:618451
HP:0031703	Abnormal ear morphology	29968	PSAT1	OMIM:616038
HP:0031703	Abnormal ear morphology	221078	NSUN6	OMIM:620779
HP:0031703	Abnormal ear morphology	1802	DPH2	ORPHA:459061
HP:0031703	Abnormal ear morphology	1802	DPH2	OMIM:620062
HP:0031703	Abnormal ear morphology	79903	NAA60	OMIM:620786
HP:0031703	Abnormal ear morphology	170689	ADAMTS15	OMIM:620545
HP:0031703	Abnormal ear morphology	5631	PRPS1	ORPHA:423479
HP:0031703	Abnormal ear morphology	5631	PRPS1	OMIM:300661
HP:0031703	Abnormal ear morphology	79868	ALG13	OMIM:300884
HP:0031703	Abnormal ear morphology	2710	GK	OMIM:307030
HP:0031703	Abnormal ear morphology	1725	DHPS	OMIM:618480
HP:0031703	Abnormal ear morphology	57551	TAOK1	OMIM:619575
HP:0031703	Abnormal ear morphology	1147	CHUK	OMIM:619339
HP:0031703	Abnormal ear morphology	4141	MARS1	OMIM:620323
HP:0031703	Abnormal ear morphology	9509	ADAMTS2	OMIM:225410
HP:0031703	Abnormal ear morphology	26276	VPS33B	OMIM:208085
HP:0031703	Abnormal ear morphology	10524	KAT5	OMIM:619103
HP:0031703	Abnormal ear morphology	3977	LIFR	OMIM:601559
HP:0031703	Abnormal ear morphology	9244	CRLF1	OMIM:272430
HP:0031703	Abnormal ear morphology	10653	SPINT2	OMIM:270420
HP:0031703	Abnormal ear morphology	2571	GAD1	OMIM:619124
HP:0031703	Abnormal ear morphology	1759	DNM1	OMIM:620352
HP:0031703	Abnormal ear morphology	5528	PPP2R5D	ORPHA:457279
HP:0031703	Abnormal ear morphology	3295	HSD17B4	OMIM:261515
HP:0031703	Abnormal ear morphology	6329	SCN4A	OMIM:620369
HP:0031703	Abnormal ear morphology	129285	PPP1R21	OMIM:619383
HP:0031703	Abnormal ear morphology	221692	PHACTR1	OMIM:618298
HP:0031703	Abnormal ear morphology	3480	IGF1R	OMIM:270450
HP:0031703	Abnormal ear morphology	83483	PLVAP	OMIM:618183
HP:0031703	Abnormal ear morphology	10128	LRPPRC	OMIM:220111
HP:0031703	Abnormal ear morphology	8506	CNTNAP1	OMIM:618186
HP:0031703	Abnormal ear morphology	55503	TRPV6	OMIM:618188
HP:0031703	Abnormal ear morphology	775	CACNA1C	OMIM:620029
HP:0031703	Abnormal ear morphology	8854	ALDH1A2	OMIM:620025
HP:0031703	Abnormal ear morphology	10274	STAG1	ORPHA:502434
HP:0031703	Abnormal ear morphology	4774	NFIA	OMIM:613735
HP:0031703	Abnormal ear morphology	118987	PDZD8	OMIM:620021
HP:0031703	Abnormal ear morphology	58	ACTA1	ORPHA:171433
HP:0031703	Abnormal ear morphology	58	ACTA1	ORPHA:171430
HP:0031703	Abnormal ear morphology	10324	KLHL41	ORPHA:171433
HP:0031703	Abnormal ear morphology	10324	KLHL41	ORPHA:171430
HP:0031703	Abnormal ear morphology	7170	TPM3	ORPHA:171433
HP:0031703	Abnormal ear morphology	9442	MED27	OMIM:619286
HP:0031703	Abnormal ear morphology	131377	KLHL40	ORPHA:171430
HP:0031703	Abnormal ear morphology	56203	LMOD3	ORPHA:171430
HP:0031703	Abnormal ear morphology	22858	CILK1	OMIM:612651
HP:0031703	Abnormal ear morphology	3899	AFF3	OMIM:619297
HP:0031703	Abnormal ear morphology	55107	ANO1	OMIM:620045
HP:0031703	Abnormal ear morphology	4524	MTHFR	ORPHA:563612
HP:0031703	Abnormal ear morphology	57216	VANGL2	ORPHA:563612
HP:0031703	Abnormal ear morphology	29128	UHRF1	ORPHA:2268
HP:0031703	Abnormal ear morphology	3070	HELLS	ORPHA:2268
HP:0031703	Abnormal ear morphology	10352	WARS2	ORPHA:572798
HP:0031703	Abnormal ear morphology	51021	MRPS16	OMIM:610498
HP:0031703	Abnormal ear morphology	2752	GLUL	OMIM:610015
HP:0031703	Abnormal ear morphology	657	BMPR1A	ORPHA:79076
HP:0031703	Abnormal ear morphology	23129	PLXND1	OMIM:620294
HP:0031703	Abnormal ear morphology	23265	EXOC7	OMIM:619072
HP:0031703	Abnormal ear morphology	55165	CEP55	OMIM:236500
HP:0031703	Abnormal ear morphology	5324	PLAG1	ORPHA:397590
HP:0031703	Abnormal ear morphology	8091	HMGA2	ORPHA:397590
HP:0031703	Abnormal ear morphology	5591	PRKDC	OMIM:615966
HP:0031703	Abnormal ear morphology	471	ATIC	OMIM:608688
HP:0031703	Abnormal ear morphology	471	ATIC	ORPHA:250977
HP:0031703	Abnormal ear morphology	10430	TMEM147	OMIM:620075
HP:0031703	Abnormal ear morphology	3187	HNRNPH1	OMIM:620083
HP:0031703	Abnormal ear morphology	4677	NARS1	OMIM:619092
HP:0031703	Abnormal ear morphology	7477	WNT7B	ORPHA:2470
HP:0031703	Abnormal ear morphology	5915	RARB	ORPHA:2470
HP:0031703	Abnormal ear morphology	667	DST	OMIM:614653
HP:0031703	Abnormal ear morphology	1144	CHRND	OMIM:253290
HP:0031703	Abnormal ear morphology	6888	TALDO1	OMIM:606003
HP:0031703	Abnormal ear morphology	55784	MCTP2	ORPHA:1596
HP:0031703	Abnormal ear morphology	51116	MRPS2	OMIM:617950
HP:0031703	Abnormal ear morphology	10265	IRX5	OMIM:611174
HP:0031703	Abnormal ear morphology	23511	NUP188	OMIM:618804
HP:0031703	Abnormal ear morphology	7874	USP7	OMIM:616863
HP:0031703	Abnormal ear morphology	1063	CENPF	OMIM:243605
HP:0031703	Abnormal ear morphology	84342	COG8	OMIM:611182
HP:0031703	Abnormal ear morphology	29980	DONSON	OMIM:251230
HP:0031703	Abnormal ear morphology	490	ATP2B1	OMIM:619910
HP:0031703	Abnormal ear morphology	100506658	OCLN	OMIM:251290
HP:0031703	Abnormal ear morphology	9320	TRIP12	OMIM:617752
HP:0031703	Abnormal ear morphology	4848	CNOT2	OMIM:618608
HP:0031703	Abnormal ear morphology	5307	PITX1	OMIM:119800
HP:0031703	Abnormal ear morphology	55331	ACER3	OMIM:617762
HP:0031703	Abnormal ear morphology	92935	MARS2	OMIM:616430
HP:0031703	Abnormal ear morphology	1723	DHODH	ORPHA:246
HP:0031703	Abnormal ear morphology	6899	TBX1	OMIM:188400
HP:0031703	Abnormal ear morphology	5184	PEPD	ORPHA:742
HP:0031703	Abnormal ear morphology	64840	PORCN	ORPHA:2092
HP:0031703	Abnormal ear morphology	5340	PLG	ORPHA:722
HP:0031703	Abnormal ear morphology	5994	RFXAP	ORPHA:572
HP:0031703	Abnormal ear morphology	4261	CIITA	ORPHA:572
HP:0031703	Abnormal ear morphology	5993	RFX5	ORPHA:572
HP:0031703	Abnormal ear morphology	8625	RFXANK	ORPHA:572
HP:0031703	Abnormal ear morphology	3718	JAK3	ORPHA:35078
HP:0031703	Abnormal ear morphology	137492	VPS37A	ORPHA:319199
HP:0031703	Abnormal ear morphology	1678	TIMM8A	ORPHA:52368
HP:0031703	Abnormal ear morphology	64072	CDH23	ORPHA:231169
HP:0031703	Abnormal ear morphology	10083	USH1C	ORPHA:231169
HP:0031703	Abnormal ear morphology	124590	USH1G	ORPHA:231169
HP:0031703	Abnormal ear morphology	83715	ESPN	ORPHA:231169
HP:0031703	Abnormal ear morphology	10518	CIB2	ORPHA:231169
HP:0031703	Abnormal ear morphology	65217	PCDH15	ORPHA:231169
HP:0031703	Abnormal ear morphology	8295	TRRAP	OMIM:618778
HP:0031703	Abnormal ear morphology	7401	CLRN1	ORPHA:231183
HP:0031703	Abnormal ear morphology	22901	ARSG	ORPHA:231183
HP:0031703	Abnormal ear morphology	4575	MT-TS2	ORPHA:231183
HP:0031703	Abnormal ear morphology	3035	HARS1	ORPHA:231183
HP:0031703	Abnormal ear morphology	84131	CEP78	ORPHA:231183
HP:0031703	Abnormal ear morphology	5456	POU3F4	ORPHA:1435
HP:0031703	Abnormal ear morphology	23498	HAAO	OMIM:617660
HP:0031703	Abnormal ear morphology	7291	TWIST1	ORPHA:794
HP:0031703	Abnormal ear morphology	2261	FGFR3	ORPHA:794
HP:0031703	Abnormal ear morphology	2261	FGFR3	ORPHA:2363
HP:0031703	Abnormal ear morphology	11160	ERLIN2	ORPHA:280384
HP:0031703	Abnormal ear morphology	11160	ERLIN2	ORPHA:209951
HP:0031703	Abnormal ear morphology	2074	ERCC6	OMIM:133540
HP:0031703	Abnormal ear morphology	9488	PIGB	OMIM:618580
HP:0031703	Abnormal ear morphology	8450	CUL4B	OMIM:300354
HP:0031703	Abnormal ear morphology	10262	SF3B4	OMIM:154400
HP:0031703	Abnormal ear morphology	1832	DSP	ORPHA:158687
HP:0031703	Abnormal ear morphology	3728	JUP	ORPHA:158687
HP:0031703	Abnormal ear morphology	123606	NIPA1	ORPHA:261183
HP:0031703	Abnormal ear morphology	7283	TUBG1	ORPHA:261183
HP:0031703	Abnormal ear morphology	81614	NIPA2	ORPHA:261183
HP:0031703	Abnormal ear morphology	9780	PIEZO1	OMIM:616843
HP:0031703	Abnormal ear morphology	51621	KLF13	OMIM:612001
HP:0031703	Abnormal ear morphology	1139	CHRNA7	OMIM:612001
HP:0031703	Abnormal ear morphology	10765	KDM5B	OMIM:618109
HP:0031703	Abnormal ear morphology	6885	MAP3K7	OMIM:617137
HP:0031703	Abnormal ear morphology	256297	PTF1A	OMIM:609069
HP:0031703	Abnormal ear morphology	5447	POR	ORPHA:95699
HP:0031703	Abnormal ear morphology	5447	POR	OMIM:207410
HP:0031703	Abnormal ear morphology	3199	HOXA2	ORPHA:83463
HP:0031703	Abnormal ear morphology	374654	KIF7	OMIM:200990
HP:0031703	Abnormal ear morphology	89910	UBE3B	OMIM:244450
HP:0031703	Abnormal ear morphology	4010	LMX1B	ORPHA:495818
HP:0031703	Abnormal ear morphology	6812	STXBP1	ORPHA:495818
HP:0031703	Abnormal ear morphology	1836	SLC26A2	ORPHA:93307
HP:0031703	Abnormal ear morphology	6905	TBCE	ORPHA:2323
HP:0031703	Abnormal ear morphology	30008	EFEMP2	OMIM:614437
HP:0031703	Abnormal ear morphology	117581	TWIST2	ORPHA:1231
HP:0031703	Abnormal ear morphology	1161	ERCC8	OMIM:216400
HP:0031703	Abnormal ear morphology	271	AMPD2	OMIM:615809
HP:0031703	Abnormal ear morphology	56975	FAM20C	OMIM:259775
HP:0031703	Abnormal ear morphology	1491	CTH	ORPHA:212
HP:0031703	Abnormal ear morphology	57492	ARID1B	OMIM:135900
HP:0031703	Abnormal ear morphology	57492	ARID1B	ORPHA:251056
HP:0031703	Abnormal ear morphology	10584	COLEC10	OMIM:248340
HP:0031703	Abnormal ear morphology	10584	COLEC10	ORPHA:293843
HP:0031703	Abnormal ear morphology	113189	CHST14	ORPHA:2953
HP:0031703	Abnormal ear morphology	29940	DSE	ORPHA:2953
HP:0031703	Abnormal ear morphology	9326	ZNHIT3	ORPHA:2836
HP:0031703	Abnormal ear morphology	8289	ARID1A	OMIM:614607
HP:0031703	Abnormal ear morphology	672	BRCA1	ORPHA:84
HP:0031703	Abnormal ear morphology	10459	MAD2L2	ORPHA:84
HP:0031703	Abnormal ear morphology	7516	XRCC2	ORPHA:84
HP:0031703	Abnormal ear morphology	29089	UBE2T	ORPHA:84
HP:0031703	Abnormal ear morphology	675	BRCA2	ORPHA:84
HP:0031703	Abnormal ear morphology	55120	FANCL	ORPHA:84
HP:0031703	Abnormal ear morphology	2177	FANCD2	ORPHA:84
HP:0031703	Abnormal ear morphology	2175	FANCA	ORPHA:84
HP:0031703	Abnormal ear morphology	2176	FANCC	ORPHA:84
HP:0031703	Abnormal ear morphology	2178	FANCE	ORPHA:84
HP:0031703	Abnormal ear morphology	2188	FANCF	ORPHA:84
HP:0031703	Abnormal ear morphology	2189	FANCG	ORPHA:84
HP:0031703	Abnormal ear morphology	5888	RAD51	ORPHA:84
HP:0031703	Abnormal ear morphology	5889	RAD51C	ORPHA:84
HP:0031703	Abnormal ear morphology	55159	RFWD3	ORPHA:84
HP:0031703	Abnormal ear morphology	83990	BRIP1	ORPHA:84
HP:0031703	Abnormal ear morphology	57697	FANCM	ORPHA:84
HP:0031703	Abnormal ear morphology	79728	PALB2	ORPHA:84
HP:0031703	Abnormal ear morphology	84464	SLX4	ORPHA:84
HP:0031703	Abnormal ear morphology	2072	ERCC4	ORPHA:84
HP:0031703	Abnormal ear morphology	55215	FANCI	ORPHA:84
HP:0031703	Abnormal ear morphology	5351	PLOD1	ORPHA:1900
HP:0031703	Abnormal ear morphology	2697	GJA1	ORPHA:2710
HP:0031703	Abnormal ear morphology	2697	GJA1	OMIM:164200
HP:0031703	Abnormal ear morphology	8260	NAA10	ORPHA:568
HP:0031703	Abnormal ear morphology	8260	NAA10	OMIM:309800
HP:0031703	Abnormal ear morphology	54880	BCOR	ORPHA:568
HP:0031703	Abnormal ear morphology	54880	BCOR	OMIM:309800
HP:0031703	Abnormal ear morphology	79087	ALG12	OMIM:607143
HP:0031703	Abnormal ear morphology	79087	ALG12	ORPHA:79324
HP:0031703	Abnormal ear morphology	2626	GATA4	ORPHA:251071
HP:0031703	Abnormal ear morphology	6045	RNF2	OMIM:619460
HP:0031703	Abnormal ear morphology	10943	MSL3	OMIM:301032
HP:0031703	Abnormal ear morphology	23347	SMCHD1	OMIM:603457
HP:0031703	Abnormal ear morphology	9896	FIG4	ORPHA:3472
HP:0031703	Abnormal ear morphology	55697	VAC14	ORPHA:3472
HP:0031703	Abnormal ear morphology	4330	MN1	OMIM:618774
HP:0031703	Abnormal ear morphology	1301	COL11A1	OMIM:228520
HP:0031703	Abnormal ear morphology	9758	FRMPD4	OMIM:300983
HP:0031703	Abnormal ear morphology	80776	B9D2	OMIM:614175
HP:0031703	Abnormal ear morphology	10682	EBP	ORPHA:35173
HP:0031703	Abnormal ear morphology	10682	EBP	OMIM:302960
HP:0031703	Abnormal ear morphology	83696	TRAPPC9	ORPHA:352530
HP:0031703	Abnormal ear morphology	5813	PURA	ORPHA:438216
HP:0031703	Abnormal ear morphology	545	ATR	OMIM:210600
HP:0031703	Abnormal ear morphology	7020	TFAP2A	ORPHA:1297
HP:0031703	Abnormal ear morphology	1906	EDN1	ORPHA:137888
HP:0031703	Abnormal ear morphology	5332	PLCB4	ORPHA:137888
HP:0031703	Abnormal ear morphology	2773	GNAI3	ORPHA:137888
HP:0031703	Abnormal ear morphology	7468	NSD2	OMIM:194190
HP:0031703	Abnormal ear morphology	10815	CPLX1	OMIM:194190
HP:0031703	Abnormal ear morphology	1487	CTBP1	OMIM:194190
HP:0031703	Abnormal ear morphology	53834	FGFRL1	OMIM:194190
HP:0031703	Abnormal ear morphology	3954	LETM1	OMIM:194190
HP:0031703	Abnormal ear morphology	2316	FLNA	ORPHA:90652
HP:0031703	Abnormal ear morphology	3476	IGBP1	ORPHA:52055
HP:0031703	Abnormal ear morphology	57167	SALL4	ORPHA:233
HP:0031703	Abnormal ear morphology	9935	MAFB	ORPHA:233
HP:0031703	Abnormal ear morphology	1123	CHN1	ORPHA:233
HP:0031703	Abnormal ear morphology	71	ACTG1	OMIM:614583
HP:0031703	Abnormal ear morphology	8558	CDK10	OMIM:617694
HP:0031703	Abnormal ear morphology	51633	OTUD6B	OMIM:617452
HP:0031703	Abnormal ear morphology	9508	ADAMTS3	ORPHA:2136
HP:0031703	Abnormal ear morphology	147372	CCBE1	ORPHA:2136
HP:0031703	Abnormal ear morphology	79633	FAT4	ORPHA:2136
HP:0031703	Abnormal ear morphology	286	ANK1	ORPHA:251066
HP:0031703	Abnormal ear morphology	157570	ESCO2	ORPHA:3103
HP:0031703	Abnormal ear morphology	157570	ESCO2	OMIM:268300
HP:0031703	Abnormal ear morphology	30813	VSX1	OMIM:614195
HP:0031703	Abnormal ear morphology	51715	RAB23	OMIM:201000
HP:0031703	Abnormal ear morphology	1654	DDX3X	ORPHA:3338
HP:0031703	Abnormal ear morphology	10472	ZBTB18	OMIM:612337
HP:0031703	Abnormal ear morphology	2255	FGF10	ORPHA:2363
HP:0031703	Abnormal ear morphology	6299	SALL1	ORPHA:857
HP:0031703	Abnormal ear morphology	51339	DACT1	ORPHA:857
HP:0031703	Abnormal ear morphology	4222	MEOX1	OMIM:214300
HP:0031703	Abnormal ear morphology	1749	DLX5	OMIM:183600
HP:0031703	Abnormal ear morphology	23065	EMC1	ORPHA:480898
HP:0031703	Abnormal ear morphology	5373	PMM2	ORPHA:79318
HP:0031703	Abnormal ear morphology	6497	SKI	OMIM:182212
HP:0031703	Abnormal ear morphology	23019	CNOT1	ORPHA:556955
HP:0031703	Abnormal ear morphology	6603	SMARCD2	OMIM:617475
HP:0031703	Abnormal ear morphology	6611	SMS	OMIM:309583
HP:0031703	Abnormal ear morphology	5648	MASP1	ORPHA:293843
HP:0031703	Abnormal ear morphology	78989	COLEC11	ORPHA:293843
HP:0031703	Abnormal ear morphology	51322	WAC	OMIM:616708
HP:0031703	Abnormal ear morphology	7476	WNT7A	OMIM:276820
HP:0031703	Abnormal ear morphology	10195	ALG3	ORPHA:79321
HP:0031703	Abnormal ear morphology	85440	DOCK7	OMIM:615859
HP:0031703	Abnormal ear morphology	219844	HYLS1	OMIM:236680
HP:0031703	Abnormal ear morphology	6913	TBX15	ORPHA:93333
HP:0031703	Abnormal ear morphology	23299	BICD2	OMIM:618291
HP:0031703	Abnormal ear morphology	7466	WFS1	ORPHA:411590
HP:0031703	Abnormal ear morphology	5087	PBX1	OMIM:617641
HP:0031703	Abnormal ear morphology	203068	TUBB	ORPHA:2505
HP:0031703	Abnormal ear morphology	10982	MAPRE2	ORPHA:2505
HP:0031703	Abnormal ear morphology	27152	INTU	OMIM:617925
HP:0031703	Abnormal ear morphology	2245	FGD1	ORPHA:915
HP:0031703	Abnormal ear morphology	55670	PEX26	ORPHA:912
HP:0031703	Abnormal ear morphology	5824	PEX19	ORPHA:912
HP:0031703	Abnormal ear morphology	5828	PEX2	ORPHA:912
HP:0031703	Abnormal ear morphology	8504	PEX3	ORPHA:912
HP:0031703	Abnormal ear morphology	8799	PEX11B	ORPHA:912
HP:0031703	Abnormal ear morphology	9409	PEX16	ORPHA:912
HP:0031703	Abnormal ear morphology	5190	PEX6	ORPHA:912
HP:0031703	Abnormal ear morphology	5830	PEX5	ORPHA:912
HP:0031703	Abnormal ear morphology	5189	PEX1	ORPHA:912
HP:0031703	Abnormal ear morphology	5193	PEX12	ORPHA:912
HP:0031703	Abnormal ear morphology	5194	PEX13	ORPHA:912
HP:0031703	Abnormal ear morphology	5195	PEX14	ORPHA:912
HP:0031703	Abnormal ear morphology	5192	PEX10	ORPHA:912
HP:0031703	Abnormal ear morphology	2110	ETFDH	OMIM:231680
HP:0031703	Abnormal ear morphology	2108	ETFA	OMIM:231680
HP:0031703	Abnormal ear morphology	2109	ETFB	OMIM:231680
HP:0031703	Abnormal ear morphology	6929	TCF3	ORPHA:33110
HP:0031703	Abnormal ear morphology	7922	SLC39A7	ORPHA:33110
HP:0031703	Abnormal ear morphology	973	CD79A	ORPHA:33110
HP:0031703	Abnormal ear morphology	974	CD79B	ORPHA:33110
HP:0031703	Abnormal ear morphology	6688	SPI1	ORPHA:33110
HP:0031703	Abnormal ear morphology	3543	IGLL1	ORPHA:33110
HP:0031703	Abnormal ear morphology	3507	IGHM	ORPHA:33110
HP:0031703	Abnormal ear morphology	29760	BLNK	ORPHA:33110
HP:0031703	Abnormal ear morphology	5295	PIK3R1	ORPHA:33110
HP:0031703	Abnormal ear morphology	56262	LRRC8A	ORPHA:33110
HP:0031703	Abnormal ear morphology	668	FOXL2	OMIM:110100
HP:0031703	Abnormal ear morphology	4953	ODC1	OMIM:619075
HP:0031703	Abnormal ear morphology	6909	TBX2	OMIM:618223
HP:0031703	Abnormal ear morphology	26038	CHD5	OMIM:619873
HP:0031703	Abnormal ear morphology	10664	CTCF	ORPHA:363611
HP:0031703	Abnormal ear morphology	10664	CTCF	OMIM:615502
HP:0031703	Abnormal ear morphology	6711	SPTBN1	OMIM:619475
HP:0031703	Abnormal ear morphology	23394	ADNP	OMIM:615873
HP:0031703	Abnormal ear morphology	79005	SCNM1	OMIM:620107
HP:0031703	Abnormal ear morphology	5361	PLXNA1	OMIM:619955
HP:0031703	Abnormal ear morphology	90459	ERI1	OMIM:620662
HP:0031703	Abnormal ear morphology	9839	ZEB2	OMIM:235730
HP:0031703	Abnormal ear morphology	11198	SUPT16H	OMIM:619480
HP:0031703	Abnormal ear morphology	27125	AFF4	ORPHA:444077
HP:0031703	Abnormal ear morphology	284252	KCTD1	OMIM:181270
HP:0031703	Abnormal ear morphology	1457	CSNK2A1	OMIM:617062
HP:0031703	Abnormal ear morphology	54870	QRICH1	OMIM:617982
HP:0031703	Abnormal ear morphology	53335	BCL11A	OMIM:617101
HP:0031703	Abnormal ear morphology	10084	PQBP1	ORPHA:93945
HP:0031703	Abnormal ear morphology	10084	PQBP1	ORPHA:93946
HP:0031703	Abnormal ear morphology	10084	PQBP1	ORPHA:93947
HP:0031703	Abnormal ear morphology	10084	PQBP1	OMIM:309500
HP:0031703	Abnormal ear morphology	23291	FBXW11	OMIM:618914
HP:0031703	Abnormal ear morphology	79971	WLS	OMIM:619648
HP:0031703	Abnormal ear morphology	6925	TCF4	OMIM:610954
HP:0031703	Abnormal ear morphology	55252	ASXL2	OMIM:617190
HP:0031703	Abnormal ear morphology	23556	PIGN	OMIM:614080
HP:0031703	Abnormal ear morphology	55777	MBD5	OMIM:156200
HP:0031703	Abnormal ear morphology	84992	PIGY	ORPHA:247262
HP:0031703	Abnormal ear morphology	84720	PIGO	ORPHA:247262
HP:0031703	Abnormal ear morphology	93210	PGAP3	ORPHA:247262
HP:0031703	Abnormal ear morphology	284098	PIGW	ORPHA:247262
HP:0031703	Abnormal ear morphology	27315	PGAP2	ORPHA:247262
HP:0031703	Abnormal ear morphology	55650	PIGV	ORPHA:247262
HP:0031703	Abnormal ear morphology	254065	BRWD3	OMIM:300659
HP:0031703	Abnormal ear morphology	1984	EIF5A	OMIM:619376
HP:0031703	Abnormal ear morphology	1663	DDX11	OMIM:613398
HP:0031703	Abnormal ear morphology	57479	PRR12	OMIM:619539
HP:0031703	Abnormal ear morphology	5455	POU3F3	OMIM:618604
HP:0031703	Abnormal ear morphology	1889	ECE1	OMIM:613870
HP:0031703	Abnormal ear morphology	1108	CHD4	OMIM:617159
HP:0031703	Abnormal ear morphology	9203	ZMYM3	OMIM:301111
HP:0031703	Abnormal ear morphology	54101	RIPK4	OMIM:263650
HP:0031703	Abnormal ear morphology	23036	ZNF292	OMIM:619188
HP:0031703	Abnormal ear morphology	7543	ZFX	OMIM:301118
HP:0031703	Abnormal ear morphology	26834	RNU4-2	OMIM:620851
HP:0031703	Abnormal ear morphology	9898	UBAP2L	OMIM:620494
HP:0031703	Abnormal ear morphology	10075	HUWE1	OMIM:309590
HP:0031703	Abnormal ear morphology	5792	PTPRF	OMIM:616001
HP:0031703	Abnormal ear morphology	79158	GNPTAB	ORPHA:576
HP:0031703	Abnormal ear morphology	915	CD3D	ORPHA:169160
HP:0031703	Abnormal ear morphology	916	CD3E	ORPHA:169160
HP:0031703	Abnormal ear morphology	919	CD247	ORPHA:169160
HP:0031703	Abnormal ear morphology	64421	DCLRE1C	ORPHA:275
HP:0031703	Abnormal ear morphology	64421	DCLRE1C	OMIM:602450
HP:0031703	Abnormal ear morphology	6103	RPGR	OMIM:300455
HP:0031703	Abnormal ear morphology	152110	NEK10	OMIM:618781
HP:0031703	Abnormal ear morphology	4860	PNP	OMIM:613179
HP:0031703	Abnormal ear morphology	92579	G6PC3	OMIM:612541
HP:0031703	Abnormal ear morphology	7454	WAS	ORPHA:906
HP:0031703	Abnormal ear morphology	7456	WIPF1	ORPHA:906
HP:0031703	Abnormal ear morphology	1493	CTLA4	ORPHA:900
HP:0031703	Abnormal ear morphology	26191	PTPN22	ORPHA:900
HP:0031703	Abnormal ear morphology	3115	HLA-DPB1	ORPHA:900
HP:0031703	Abnormal ear morphology	5657	PRTN3	ORPHA:900
HP:0031703	Abnormal ear morphology	3113	HLA-DPA1	ORPHA:900
HP:0031703	Abnormal ear morphology	3561	IL2RG	OMIM:312863
HP:0031703	Abnormal ear morphology	3575	IL7R	OMIM:608971
HP:0031703	Abnormal ear morphology	10312	TCIRG1	ORPHA:667
HP:0031703	Abnormal ear morphology	1186	CLCN7	ORPHA:667
HP:0031703	Abnormal ear morphology	29887	SNX10	ORPHA:667
HP:0031703	Abnormal ear morphology	8600	TNFSF11	ORPHA:667
HP:0031703	Abnormal ear morphology	11011	TLK2	OMIM:618050
HP:0031703	Abnormal ear morphology	5896	RAG1	OMIM:601457
HP:0031703	Abnormal ear morphology	5897	RAG2	OMIM:601457
HP:0031703	Abnormal ear morphology	7852	CXCR4	ORPHA:51636
HP:0031703	Abnormal ear morphology	23495	TNFRSF13B	ORPHA:1572
HP:0031703	Abnormal ear morphology	4790	NFKB1	ORPHA:1572
HP:0031703	Abnormal ear morphology	4791	NFKB2	ORPHA:1572
HP:0031703	Abnormal ear morphology	115650	TNFRSF13C	ORPHA:1572
HP:0031703	Abnormal ear morphology	1380	CR2	ORPHA:1572
HP:0031703	Abnormal ear morphology	8742	TNFSF12	ORPHA:1572
HP:0031703	Abnormal ear morphology	930	CD19	ORPHA:1572
HP:0031703	Abnormal ear morphology	29851	ICOS	ORPHA:1572
HP:0031703	Abnormal ear morphology	931	MS4A1	ORPHA:1572
HP:0031703	Abnormal ear morphology	975	CD81	ORPHA:1572
HP:0031703	Abnormal ear morphology	359948	IRF2BP2	ORPHA:1572
HP:0031703	Abnormal ear morphology	352909	DNAAF3	OMIM:606763
HP:0031703	Abnormal ear morphology	165918	RNF168	ORPHA:420741
HP:0031703	Abnormal ear morphology	1536	CYBB	ORPHA:379
HP:0031703	Abnormal ear morphology	4688	NCF2	ORPHA:379
HP:0031703	Abnormal ear morphology	1535	CYBA	ORPHA:379
HP:0031703	Abnormal ear morphology	4689	NCF4	ORPHA:379
HP:0031703	Abnormal ear morphology	79415	CYBC1	ORPHA:379
HP:0031703	Abnormal ear morphology	1991	ELANE	ORPHA:2686
HP:0031703	Abnormal ear morphology	339829	CCDC39	OMIM:613807
HP:0031703	Abnormal ear morphology	6890	TAP1	OMIM:604571
HP:0031703	Abnormal ear morphology	25790	CFAP45	OMIM:619608
HP:0031703	Abnormal ear morphology	8456	FOXN1	ORPHA:83471
HP:0031703	Abnormal ear morphology	81858	SHARPIN	OMIM:620795
HP:0031703	Abnormal ear morphology	695	BTK	ORPHA:47
HP:0031703	Abnormal ear morphology	6774	STAT3	ORPHA:2314
HP:0031703	Abnormal ear morphology	2624	GATA2	ORPHA:228423
HP:0031703	Abnormal ear morphology	7161	TP73	OMIM:619466
HP:0031703	Abnormal ear morphology	146206	CARMIL2	OMIM:618131
HP:0031703	Abnormal ear morphology	860	RUNX2	ORPHA:1452
HP:0031703	Abnormal ear morphology	204	AK2	ORPHA:33355
HP:0031703	Abnormal ear morphology	81704	DOCK8	ORPHA:217390
HP:0031703	Abnormal ear morphology	9719	ADAMTSL2	OMIM:231050
HP:0031703	Abnormal ear morphology	10220	GDF11	OMIM:619122
HP:0031703	Abnormal ear morphology	92002	CCNQ	ORPHA:140952
HP:0031703	Abnormal ear morphology	92002	CCNQ	OMIM:300707
HP:0031703	Abnormal ear morphology	113246	C12orf57	OMIM:218340
HP:0031703	Abnormal ear morphology	1289	COL5A1	OMIM:130000
HP:0031703	Abnormal ear morphology	23431	AP4E1	OMIM:613744
HP:0031703	Abnormal ear morphology	9230	RAB11B	OMIM:617807
HP:0031703	Abnormal ear morphology	10771	ZMYND11	OMIM:616083
HP:0031703	Abnormal ear morphology	727857	BHLHA9	ORPHA:3329
HP:0031703	Abnormal ear morphology	738	VPS51	OMIM:618606
HP:0031703	Abnormal ear morphology	7043	TGFB3	OMIM:615582
HP:0031703	Abnormal ear morphology	11113	CIT	OMIM:617090
HP:0031703	Abnormal ear morphology	11253	MAN1B1	ORPHA:397941
HP:0031703	Abnormal ear morphology	11253	MAN1B1	OMIM:614202
HP:0031703	Abnormal ear morphology	27316	RBMX	OMIM:300238
HP:0031703	Abnormal ear morphology	27316	RBMX	ORPHA:85286
HP:0031703	Abnormal ear morphology	340533	NEXMIF	OMIM:300912
HP:0031703	Abnormal ear morphology	23135	KDM6B	OMIM:618505
HP:0031703	Abnormal ear morphology	781	CACNA2D1	OMIM:620149
HP:0031703	Abnormal ear morphology	91801	ALKBH8	OMIM:618504
HP:0031703	Abnormal ear morphology	84942	WDR73	OMIM:251300
HP:0031703	Abnormal ear morphology	84942	WDR73	ORPHA:2065
HP:0031703	Abnormal ear morphology	1134	CHRNA1	OMIM:608930
HP:0031703	Abnormal ear morphology	4047	LSS	ORPHA:2850
HP:0031703	Abnormal ear morphology	197	AHSG	ORPHA:2850
HP:0031703	Abnormal ear morphology	3694	ITGB6	ORPHA:2850
HP:0031703	Abnormal ear morphology	2067	ERCC1	ORPHA:90322
HP:0031703	Abnormal ear morphology	4983	OPHN1	OMIM:300486
HP:0031703	Abnormal ear morphology	10479	SLC9A6	OMIM:300243
HP:0031703	Abnormal ear morphology	10479	SLC9A6	ORPHA:85278
HP:0031703	Abnormal ear morphology	10300	KATNB1	OMIM:616212
HP:0031703	Abnormal ear morphology	7552	ZNF711	OMIM:300803
HP:0031703	Abnormal ear morphology	10730	YME1L1	OMIM:617302
HP:0031703	Abnormal ear morphology	55690	PACS1	OMIM:615009
HP:0031703	Abnormal ear morphology	55690	PACS1	ORPHA:329224
HP:0031703	Abnormal ear morphology	80055	PGAP1	OMIM:615802
HP:0031703	Abnormal ear morphology	84520	GON7	OMIM:619603
HP:0031703	Abnormal ear morphology	84520	GON7	ORPHA:2065
HP:0031703	Abnormal ear morphology	6023	RMRP	ORPHA:175
HP:0031703	Abnormal ear morphology	51360	MBTPS2	ORPHA:2273
HP:0031703	Abnormal ear morphology	64324	NSD1	OMIM:117550
HP:0031703	Abnormal ear morphology	64324	NSD1	ORPHA:3447
HP:0031703	Abnormal ear morphology	284058	KANSL1	ORPHA:363958
HP:0031703	Abnormal ear morphology	284058	KANSL1	ORPHA:363965
HP:0031703	Abnormal ear morphology	284058	KANSL1	OMIM:610443
HP:0031703	Abnormal ear morphology	25885	POLR1A	OMIM:616462
HP:0031703	Abnormal ear morphology	80204	FBXO11	OMIM:618089
HP:0031703	Abnormal ear morphology	114034	TOE1	OMIM:614969
HP:0031703	Abnormal ear morphology	114034	TOE1	ORPHA:284339
HP:0031703	Abnormal ear morphology	83550	GPR101	ORPHA:963
HP:0031703	Abnormal ear morphology	9049	AIP	ORPHA:963
HP:0031703	Abnormal ear morphology	10555	AGPAT2	OMIM:608594
HP:0031703	Abnormal ear morphology	259232	NALCN	ORPHA:562528
HP:0031703	Abnormal ear morphology	259232	NALCN	OMIM:615419
HP:0031703	Abnormal ear morphology	26523	AGO1	OMIM:620292
HP:0031703	Abnormal ear morphology	23096	IQSEC2	ORPHA:397933
HP:0031703	Abnormal ear morphology	652	BMP4	OMIM:607932
HP:0031703	Abnormal ear morphology	8726	EED	OMIM:617561
HP:0031703	Abnormal ear morphology	1193	CLIC2	ORPHA:324410
HP:0031703	Abnormal ear morphology	55714	TENM3	OMIM:615145
HP:0031703	Abnormal ear morphology	8036	SHOC2	ORPHA:2701
HP:0031703	Abnormal ear morphology	5500	PPP1CB	ORPHA:2701
HP:0031703	Abnormal ear morphology	2783	GNB2	OMIM:619503
HP:0031703	Abnormal ear morphology	165	AEBP1	ORPHA:536532
HP:0031703	Abnormal ear morphology	165	AEBP1	OMIM:618000
HP:0031703	Abnormal ear morphology	26227	PHGDH	OMIM:256520
HP:0031703	Abnormal ear morphology	92482	BBIP1	ORPHA:110
HP:0031703	Abnormal ear morphology	80184	CEP290	ORPHA:110
HP:0031703	Abnormal ear morphology	11020	IFT27	ORPHA:110
HP:0031703	Abnormal ear morphology	582	BBS1	ORPHA:110
HP:0031703	Abnormal ear morphology	49855	SCAPER	ORPHA:110
HP:0031703	Abnormal ear morphology	4867	NPHP1	ORPHA:110
HP:0031703	Abnormal ear morphology	51057	WDPCP	ORPHA:110
HP:0031703	Abnormal ear morphology	132320	SCLT1	ORPHA:110
HP:0031703	Abnormal ear morphology	27241	BBS9	ORPHA:110
HP:0031703	Abnormal ear morphology	84984	CEP19	ORPHA:110
HP:0031703	Abnormal ear morphology	22954	TRIM32	ORPHA:110
HP:0031703	Abnormal ear morphology	54903	MKS1	ORPHA:110
HP:0031703	Abnormal ear morphology	79738	BBS10	ORPHA:110
HP:0031703	Abnormal ear morphology	123016	TTC8	ORPHA:110
HP:0031703	Abnormal ear morphology	26160	IFT172	ORPHA:110
HP:0031703	Abnormal ear morphology	583	BBS2	ORPHA:110
HP:0031703	Abnormal ear morphology	585	BBS4	ORPHA:110
HP:0031703	Abnormal ear morphology	8195	MKKS	ORPHA:110
HP:0031703	Abnormal ear morphology	54585	LZTFL1	ORPHA:110
HP:0031703	Abnormal ear morphology	55212	BBS7	ORPHA:110
HP:0031703	Abnormal ear morphology	166379	BBS12	ORPHA:110
HP:0031703	Abnormal ear morphology	10806	SDCCAG8	ORPHA:110
HP:0031703	Abnormal ear morphology	157657	CFAP418	ORPHA:110
HP:0031703	Abnormal ear morphology	84100	ARL6	ORPHA:110
HP:0031703	Abnormal ear morphology	129880	BBS5	ORPHA:110
HP:0031703	Abnormal ear morphology	80173	IFT74	ORPHA:110
HP:0031703	Abnormal ear morphology	1182	CLCN3	OMIM:619512
HP:0031703	Abnormal ear morphology	29081	METTL5	OMIM:618665
HP:0031703	Abnormal ear morphology	388662	SLC6A17	ORPHA:457212
HP:0031703	Abnormal ear morphology	388662	SLC6A17	OMIM:616269
HP:0031703	Abnormal ear morphology	55773	TBC1D23	OMIM:617695
HP:0031703	Abnormal ear morphology	57680	CHD8	OMIM:615032
HP:0031703	Abnormal ear morphology	5063	PAK3	OMIM:300558
HP:0031703	Abnormal ear morphology	8905	AP1S2	ORPHA:85335
HP:0031703	Abnormal ear morphology	2332	FMR1	ORPHA:908
HP:0031703	Abnormal ear morphology	2332	FMR1	ORPHA:449291
HP:0031703	Abnormal ear morphology	2332	FMR1	OMIM:300624
HP:0031703	Abnormal ear morphology	57282	SLC4A10	OMIM:620746
HP:0031703	Abnormal ear morphology	6804	STX1A	ORPHA:904
HP:0031703	Abnormal ear morphology	7461	CLIP2	ORPHA:904
HP:0031703	Abnormal ear morphology	84277	DNAJC30	ORPHA:904
HP:0031703	Abnormal ear morphology	8468	FKBP6	ORPHA:904
HP:0031703	Abnormal ear morphology	5982	RFC2	ORPHA:904
HP:0031703	Abnormal ear morphology	2969	GTF2I	ORPHA:904
HP:0031703	Abnormal ear morphology	3984	LIMK1	ORPHA:904
HP:0031703	Abnormal ear morphology	9569	GTF2IRD1	ORPHA:904
HP:0031703	Abnormal ear morphology	155382	VPS37D	ORPHA:904
HP:0031703	Abnormal ear morphology	155368	METTL27	ORPHA:904
HP:0031703	Abnormal ear morphology	114049	BUD23	ORPHA:904
HP:0031703	Abnormal ear morphology	7458	EIF4H	ORPHA:904
HP:0031703	Abnormal ear morphology	84163	GTF2IRD2	ORPHA:904
HP:0031703	Abnormal ear morphology	26608	TBL2	ORPHA:904
HP:0031703	Abnormal ear morphology	653361	NCF1	ORPHA:904
HP:0031703	Abnormal ear morphology	135886	TMEM270	ORPHA:904
HP:0031703	Abnormal ear morphology	9031	BAZ1B	ORPHA:904
HP:0031703	Abnormal ear morphology	2006	ELN	ORPHA:904
HP:0031703	Abnormal ear morphology	116115	ZNF526	OMIM:619877
HP:0031703	Abnormal ear morphology	5728	PTEN	ORPHA:109
HP:0031703	Abnormal ear morphology	81031	SLC2A10	ORPHA:3342
HP:0031703	Abnormal ear morphology	81031	SLC2A10	OMIM:208050
HP:0031703	Abnormal ear morphology	6134	RPL10	ORPHA:459070
HP:0031703	Abnormal ear morphology	23345	SYNE1	ORPHA:319332
HP:0031703	Abnormal ear morphology	3675	ITGA3	OMIM:614748
HP:0031703	Abnormal ear morphology	5727	PTCH1	OMIM:610828
HP:0031703	Abnormal ear morphology	2736	GLI2	OMIM:610829
HP:0031703	Abnormal ear morphology	79759	ZNF668	OMIM:620194
HP:0031703	Abnormal ear morphology	26137	ZBTB20	OMIM:259050
HP:0031703	Abnormal ear morphology	26137	ZBTB20	ORPHA:3042
HP:0031703	Abnormal ear morphology	9158	FIBP	OMIM:617107
HP:0031703	Abnormal ear morphology	9158	FIBP	ORPHA:500095
HP:0031703	Abnormal ear morphology	182	JAG1	OMIM:118450
HP:0031703	Abnormal ear morphology	63895	PIEZO2	ORPHA:1154
HP:0031703	Abnormal ear morphology	6901	TAFAZZIN	OMIM:302060
HP:0031703	Abnormal ear morphology	5832	ALDH18A1	OMIM:219150
HP:0031703	Abnormal ear morphology	84919	PPP1R15B	OMIM:616817
HP:0031703	Abnormal ear morphology	84919	PPP1R15B	ORPHA:391408
HP:0031703	Abnormal ear morphology	8573	CASK	ORPHA:163937
HP:0031703	Abnormal ear morphology	8573	CASK	OMIM:300749
HP:0031703	Abnormal ear morphology	8242	KDM5C	OMIM:300534
HP:0031703	Abnormal ear morphology	23007	PLCH1	OMIM:619895
HP:0031703	Abnormal ear morphology	26047	CNTNAP2	OMIM:610042
HP:0031703	Abnormal ear morphology	2146	EZH2	OMIM:277590
HP:0031703	Abnormal ear morphology	2146	EZH2	ORPHA:3447
HP:0031703	Abnormal ear morphology	50945	TBX22	ORPHA:921
HP:0031703	Abnormal ear morphology	50945	TBX22	OMIM:302905
HP:0031703	Abnormal ear morphology	23512	SUZ12	ORPHA:3447
HP:0031703	Abnormal ear morphology	6595	SMARCA2	OMIM:601358
HP:0031703	Abnormal ear morphology	7546	ZIC2	OMIM:609637
HP:0031703	Abnormal ear morphology	55023	PHIP	ORPHA:589905
HP:0031703	Abnormal ear morphology	55023	PHIP	OMIM:617991
HP:0031703	Abnormal ear morphology	29123	ANKRD11	OMIM:148050
HP:0031703	Abnormal ear morphology	29123	ANKRD11	ORPHA:2332
HP:0031703	Abnormal ear morphology	58497	PRUNE1	OMIM:617481
HP:0031703	Abnormal ear morphology	22930	RAB3GAP1	OMIM:619420
HP:0031703	Abnormal ear morphology	22930	RAB3GAP1	OMIM:600118
HP:0031703	Abnormal ear morphology	22930	RAB3GAP1	ORPHA:2510
HP:0031703	Abnormal ear morphology	84188	FAR1	OMIM:616154
HP:0031703	Abnormal ear morphology	84188	FAR1	ORPHA:438178
HP:0031703	Abnormal ear morphology	867	CBL	OMIM:613563
HP:0031703	Abnormal ear morphology	22907	DHX30	OMIM:617804
HP:0031703	Abnormal ear morphology	7227	TRPS1	OMIM:190350
HP:0031703	Abnormal ear morphology	7227	TRPS1	ORPHA:77258
HP:0031703	Abnormal ear morphology	1642	DDB1	OMIM:619426
HP:0031703	Abnormal ear morphology	7319	UBE2A	ORPHA:163956
HP:0031703	Abnormal ear morphology	8925	HERC1	OMIM:617011
HP:0031703	Abnormal ear morphology	8925	HERC1	ORPHA:457359
HP:0031703	Abnormal ear morphology	9759	HDAC4	OMIM:619797
HP:0031703	Abnormal ear morphology	56896	DPYSL5	OMIM:619435
HP:0031703	Abnormal ear morphology	4683	NBN	OMIM:251260
HP:0031703	Abnormal ear morphology	4683	NBN	ORPHA:647
HP:0031703	Abnormal ear morphology	83548	COG3	OMIM:620546
HP:0031703	Abnormal ear morphology	6418	SET	OMIM:618106
HP:0031703	Abnormal ear morphology	85358	SHANK3	OMIM:606232
HP:0031703	Abnormal ear morphology	2202	EFEMP1	OMIM:620780
HP:0031703	Abnormal ear morphology	6567	SLC16A2	OMIM:300523
HP:0031703	Abnormal ear morphology	57520	HECW2	OMIM:617268
HP:0031703	Abnormal ear morphology	113179	ADAT3	ORPHA:363528
HP:0031703	Abnormal ear morphology	9342	SNAP29	ORPHA:66631
HP:0031703	Abnormal ear morphology	23030	KDM4B	OMIM:619320
HP:0031703	Abnormal ear morphology	1363	CPE	OMIM:619326
HP:0031703	Abnormal ear morphology	26128	KIFBP	ORPHA:66629
HP:0031703	Abnormal ear morphology	54820	NDE1	OMIM:605013
HP:0031703	Abnormal ear morphology	2720	GLB1	ORPHA:79255
HP:0031703	Abnormal ear morphology	3417	IDH1	ORPHA:99646
HP:0031703	Abnormal ear morphology	161725	OTUD7A	OMIM:620790
HP:0031703	Abnormal ear morphology	6904	TBCD	ORPHA:496641
HP:0031703	Abnormal ear morphology	4810	NHS	OMIM:302350
HP:0031703	Abnormal ear morphology	4204	MECP2	OMIM:300055
HP:0031703	Abnormal ear morphology	4204	MECP2	OMIM:300260
HP:0031703	Abnormal ear morphology	23221	RHOBTB2	OMIM:618004
HP:0031703	Abnormal ear morphology	24140	FTSJ1	OMIM:309549
HP:0031703	Abnormal ear morphology	4125	MAN2B1	OMIM:248500
HP:0031703	Abnormal ear morphology	92255	LMBRD2	OMIM:619694
HP:0031703	Abnormal ear morphology	8831	SYNGAP1	ORPHA:544254
HP:0031703	Abnormal ear morphology	3643	INSR	OMIM:246200
HP:0031703	Abnormal ear morphology	3643	INSR	ORPHA:769
HP:0031703	Abnormal ear morphology	5604	MAP2K1	ORPHA:1340
HP:0031703	Abnormal ear morphology	5605	MAP2K2	ORPHA:1340
HP:0031703	Abnormal ear morphology	3845	KRAS	ORPHA:1340
HP:0031703	Abnormal ear morphology	673	BRAF	ORPHA:1340
HP:0031703	Abnormal ear morphology	29920	PYCR2	ORPHA:481152
HP:0031703	Abnormal ear morphology	23389	MED13L	ORPHA:369891
HP:0031703	Abnormal ear morphology	23389	MED13L	OMIM:616789
HP:0031703	Abnormal ear morphology	6821	SUOX	OMIM:272300
HP:0031703	Abnormal ear morphology	23258	DENND5A	OMIM:617281
HP:0031703	Abnormal ear morphology	2068	ERCC2	OMIM:601675
HP:0031703	Abnormal ear morphology	80185	TTI2	OMIM:615541
HP:0031703	Abnormal ear morphology	80185	TTI2	ORPHA:391307
HP:0031703	Abnormal ear morphology	3758	KCNJ1	OMIM:241200
HP:0031703	Abnormal ear morphology	92949	ADAMTSL1	ORPHA:521445
HP:0031703	Abnormal ear morphology	57187	THOC2	ORPHA:457240
HP:0031703	Abnormal ear morphology	6874	TAF4	OMIM:620450
HP:0031703	Abnormal ear morphology	760	CA2	ORPHA:2785
HP:0031703	Abnormal ear morphology	79718	TBL1XR1	ORPHA:487825
HP:0031703	Abnormal ear morphology	9791	PTDSS1	OMIM:151050
HP:0031703	Abnormal ear morphology	9791	PTDSS1	ORPHA:2658
HP:0031703	Abnormal ear morphology	8943	AP3D1	OMIM:617050
HP:0031703	Abnormal ear morphology	5977	DPF2	OMIM:618027
HP:0031703	Abnormal ear morphology	2892	GRIA3	ORPHA:364028
HP:0031703	Abnormal ear morphology	348180	CTU2	OMIM:618142
HP:0031703	Abnormal ear morphology	26580	BSCL2	OMIM:269700
HP:0031703	Abnormal ear morphology	25782	RAB3GAP2	OMIM:614225
HP:0031703	Abnormal ear morphology	25782	RAB3GAP2	ORPHA:2510
HP:0031703	Abnormal ear morphology	1859	DYRK1A	OMIM:614104
HP:0031703	Abnormal ear morphology	1861	TOR1A	OMIM:618947
HP:0031703	Abnormal ear morphology	22931	RAB18	OMIM:614222
HP:0031703	Abnormal ear morphology	22931	RAB18	ORPHA:2510
HP:0031703	Abnormal ear morphology	10283	CWC27	OMIM:250410
HP:0031703	Abnormal ear morphology	10283	CWC27	ORPHA:166035
HP:0031703	Abnormal ear morphology	6513	SLC2A1	ORPHA:168577
HP:0031703	Abnormal ear morphology	63932	STEEP1	OMIM:301013
HP:0031703	Abnormal ear morphology	8720	MBTPS1	OMIM:618392
HP:0031703	Abnormal ear morphology	136647	MPLKIP	OMIM:234050
HP:0031703	Abnormal ear morphology	7204	TRIO	OMIM:617061
HP:0031703	Abnormal ear morphology	2222	FDFT1	OMIM:618156
HP:0031703	Abnormal ear morphology	6872	TAF1	OMIM:300966
HP:0031703	Abnormal ear morphology	374879	ZNF699	OMIM:619488
HP:0031703	Abnormal ear morphology	2893	GRIA4	OMIM:617864
HP:0031703	Abnormal ear morphology	93587	TRMT10A	ORPHA:391408
HP:0031703	Abnormal ear morphology	3756	KCNH1	ORPHA:420561
HP:0031703	Abnormal ear morphology	6748	SSR4	ORPHA:370927
HP:0031703	Abnormal ear morphology	6748	SSR4	OMIM:300934
HP:0031703	Abnormal ear morphology	84295	PHF6	OMIM:301900
HP:0031703	Abnormal ear morphology	4256	MGP	OMIM:245150
HP:0031703	Abnormal ear morphology	153241	CEP120	OMIM:616300
HP:0031703	Abnormal ear morphology	440	ASNS	OMIM:615574
HP:0031703	Abnormal ear morphology	55733	HHAT	ORPHA:1422
HP:0031703	Abnormal ear morphology	11043	MID2	OMIM:300928
HP:0031703	Abnormal ear morphology	4693	NDP	ORPHA:649
HP:0031703	Abnormal ear morphology	128637	TBC1D20	ORPHA:2510
HP:0031703	Abnormal ear morphology	9562	MINPP1	ORPHA:284339
HP:0031703	Abnormal ear morphology	55553	SOX6	OMIM:618971
HP:0031703	Abnormal ear morphology	55181	SMG8	OMIM:619268
HP:0031703	Abnormal ear morphology	1968	EIF2S3	OMIM:300148
HP:0031703	Abnormal ear morphology	51109	RDH11	ORPHA:436245
HP:0031703	Abnormal ear morphology	523	ATP6V1A	OMIM:617403
HP:0031703	Abnormal ear morphology	79693	YRDC	ORPHA:2065
HP:0031703	Abnormal ear morphology	51002	TPRKB	ORPHA:2065
HP:0031703	Abnormal ear morphology	55644	OSGEP	ORPHA:2065
HP:0031703	Abnormal ear morphology	57122	NUP107	ORPHA:2065
HP:0031703	Abnormal ear morphology	10785	WDR4	ORPHA:2065
HP:0031703	Abnormal ear morphology	55746	NUP133	ORPHA:2065
HP:0031703	Abnormal ear morphology	112858	TP53RK	ORPHA:2065
HP:0031703	Abnormal ear morphology	8270	LAGE3	ORPHA:2065
HP:0031703	Abnormal ear morphology	27445	PCLO	OMIM:608027
HP:0031703	Abnormal ear morphology	5696	PSMB8	OMIM:256040
HP:0031703	Abnormal ear morphology	5052	PRDX1	OMIM:277400
HP:0031703	Abnormal ear morphology	25974	MMACHC	OMIM:277400
HP:0031703	Abnormal ear morphology	9990	SLC12A6	OMIM:218000
HP:0031703	Abnormal ear morphology	283450	HECTD4	OMIM:620250
HP:0031703	Abnormal ear morphology	51434	ANAPC7	OMIM:619699
HP:0031703	Abnormal ear morphology	145173	B3GLCT	OMIM:261540
HP:0031703	Abnormal ear morphology	1909	EDNRA	OMIM:616367
HP:0031703	Abnormal ear morphology	1280	COL2A1	ORPHA:93316
HP:0031703	Abnormal ear morphology	6154	RPL26	OMIM:614900
HP:0031703	Abnormal ear morphology	3166	HMX1	OMIM:612109
HP:0031703	Abnormal ear morphology	6558	SLC12A2	OMIM:619080
HP:0031703	Abnormal ear morphology	1294	COL7A1	ORPHA:79409
HP:0031703	Abnormal ear morphology	4094	MAF	ORPHA:1272
HP:0031703	Abnormal ear morphology	114928	GPRASP2	OMIM:301018
HP:0031703	Abnormal ear morphology	11193	WBP4	OMIM:620852
HP:0031703	Abnormal ear morphology	9382	COG1	OMIM:611209
HP:0031703	Abnormal ear morphology	50964	SOST	ORPHA:1513
HP:0031703	Abnormal ear morphology	121340	SP7	ORPHA:1513
HP:0031703	Abnormal ear morphology	6234	RPS28	OMIM:606164
HP:0031703	Abnormal ear morphology	100	ADA	ORPHA:277
HP:0031703	Abnormal ear morphology	3071	NCKAP1L	OMIM:618982
HP:0031703	Abnormal ear morphology	2070	EYA4	ORPHA:217622
HP:0031703	Abnormal ear morphology	23308	ICOSLG	OMIM:620825
HP:0031703	Abnormal ear morphology	5880	RAC2	OMIM:618986
HP:0031703	Abnormal ear morphology	987	LRBA	OMIM:614700
HP:0031703	Abnormal ear morphology	64682	ANAPC1	OMIM:618625
HP:0031703	Abnormal ear morphology	7174	TPP2	ORPHA:444463
HP:0031703	Abnormal ear morphology	7174	TPP2	OMIM:619220
HP:0031703	Abnormal ear morphology	51111	KMT5B	OMIM:617788
HP:0031703	Abnormal ear morphology	146845	CFAP52	OMIM:619607
HP:0031703	Abnormal ear morphology	144568	A2ML1	OMIM:166760
HP:0031703	Abnormal ear morphology	6786	STIM1	OMIM:612783
HP:0031703	Abnormal ear morphology	28755	TRAC	OMIM:615387
HP:0031703	Abnormal ear morphology	3425	IDUA	OMIM:607014
HP:0031703	Abnormal ear morphology	2214	FCGR3A	OMIM:615707
HP:0031703	Abnormal ear morphology	8517	IKBKG	ORPHA:98813
HP:0031703	Abnormal ear morphology	4792	NFKBIA	ORPHA:98813
HP:0031703	Abnormal ear morphology	30011	SH3KBP1	OMIM:300310
HP:0031703	Abnormal ear morphology	5971	RELB	OMIM:617585
HP:0031703	Abnormal ear morphology	917	CD3G	OMIM:615607
HP:0031703	Abnormal ear morphology	3373	HYAL1	OMIM:601492
HP:0031703	Abnormal ear morphology	3978	LIG1	OMIM:619774
HP:0031703	Abnormal ear morphology	84522	JAGN1	OMIM:616022
HP:0031703	Abnormal ear morphology	3551	IKBKB	OMIM:618204
HP:0031703	Abnormal ear morphology	3514	IGKC	ORPHA:183675
HP:0031703	Abnormal ear morphology	3501	IGHG2	ORPHA:183675
HP:0031703	Abnormal ear morphology	51311	TLR8	OMIM:301078
HP:0031703	Abnormal ear morphology	2742	GLRA2	OMIM:301076
HP:0031703	Abnormal ear morphology	7068	THRB	ORPHA:566243
HP:0031703	Abnormal ear morphology	3426	CFI	OMIM:610984
HP:0031703	Abnormal ear morphology	9094	UNC119	OMIM:615518
HP:0031703	Abnormal ear morphology	79650	USB1	OMIM:604173
HP:0031703	Abnormal ear morphology	11151	CORO1A	OMIM:615401
HP:0031703	Abnormal ear morphology	388389	DNAAF19	OMIM:614679
HP:0031703	Abnormal ear morphology	29927	SEC61A1	OMIM:620674
HP:0031703	Abnormal ear morphology	29927	SEC61A1	OMIM:620670
HP:0031703	Abnormal ear morphology	868	CBLB	OMIM:620430
HP:0031703	Abnormal ear morphology	84061	MAGT1	OMIM:300853
HP:0031703	Abnormal ear morphology	713	C1QB	OMIM:620321
HP:0031703	Abnormal ear morphology	1053	CEBPE	OMIM:245480
HP:0031703	Abnormal ear morphology	3560	IL2RB	OMIM:618495
HP:0031703	Abnormal ear morphology	91039	DPP9	OMIM:620331
HP:0031703	Abnormal ear morphology	164781	DAW1	OMIM:620570
HP:0031703	Abnormal ear morphology	55329	MNS1	OMIM:618948
HP:0031703	Abnormal ear morphology	940	CD28	OMIM:620901
HP:0031703	Abnormal ear morphology	5580	PRKCD	OMIM:615559
HP:0031703	Abnormal ear morphology	920	CD4	OMIM:619238
HP:0031703	Abnormal ear morphology	5336	PLCG2	OMIM:614468
HP:0031703	Abnormal ear morphology	3570	IL6R	OMIM:618944
HP:0031703	Abnormal ear morphology	23112	TNRC6B	OMIM:619243
HP:0031703	Abnormal ear morphology	50615	IL21R	OMIM:615207
HP:0031703	Abnormal ear morphology	5294	PIK3CG	OMIM:619802
HP:0031703	Abnormal ear morphology	10551	AGR2	OMIM:620233
HP:0031703	Abnormal ear morphology	83844	USP26	OMIM:301101
HP:0031703	Abnormal ear morphology	84905	ZNF341	OMIM:618282
HP:0031703	Abnormal ear morphology	139818	DOCK11	OMIM:301109
HP:0031703	Abnormal ear morphology	2990	GUSB	OMIM:253220
HP:0031703	Abnormal ear morphology	5236	PGM1	OMIM:614921
HP:0031703	Abnormal ear morphology	23765	IL17RA	OMIM:613953
HP:0031703	Abnormal ear morphology	341208	HEPHL1	OMIM:261990
HP:0031703	Abnormal ear morphology	721	C4B	OMIM:614379
HP:0031703	Abnormal ear morphology	1794	DOCK2	OMIM:616433
HP:0031703	Abnormal ear morphology	5130	PCYT1A	OMIM:608940
HP:0031703	Abnormal ear morphology	3106	HLA-B	ORPHA:397
HP:0031703	Abnormal ear morphology	3123	HLA-DRB1	ORPHA:397
HP:0031703	Abnormal ear morphology	8974	P4HA2	ORPHA:397
HP:0031703	Abnormal ear morphology	85016	CFAP300	OMIM:618063
HP:0031703	Abnormal ear morphology	85016	CFAP300	ORPHA:244
HP:0031703	Abnormal ear morphology	56172	ANKH	ORPHA:1522
HP:0031703	Abnormal ear morphology	6228	RPS23	OMIM:617412
HP:0031703	Abnormal ear morphology	5238	PGM3	ORPHA:443811
HP:0031703	Abnormal ear morphology	5238	PGM3	OMIM:615816
HP:0031703	Abnormal ear morphology	91147	TMEM67	OMIM:602152
HP:0031703	Abnormal ear morphology	57589	RIC1	ORPHA:199306
HP:0031703	Abnormal ear morphology	1739	DLG1	ORPHA:199306
HP:0031703	Abnormal ear morphology	999	CDH1	ORPHA:199306
HP:0031703	Abnormal ear morphology	999	CDH1	ORPHA:1997
HP:0031703	Abnormal ear morphology	5156	PDGFRA	ORPHA:199306
HP:0031703	Abnormal ear morphology	22837	COBLL1	ORPHA:199306
HP:0031703	Abnormal ear morphology	54848	ARHGEF38	ORPHA:199306
HP:0031703	Abnormal ear morphology	9411	ARHGAP29	ORPHA:199306
HP:0031703	Abnormal ear morphology	8792	TNFRSF11A	OMIM:174810
HP:0031703	Abnormal ear morphology	1855	DVL1	OMIM:616331
HP:0031703	Abnormal ear morphology	63916	ELMO2	ORPHA:3019
HP:0031703	Abnormal ear morphology	2314	FLII	ORPHA:819
HP:0031703	Abnormal ear morphology	10522	DEAF1	ORPHA:819
HP:0031703	Abnormal ear morphology	6662	SOX9	OMIM:114290
HP:0031703	Abnormal ear morphology	29072	SETD2	OMIM:620155
HP:0031703	Abnormal ear morphology	1500	CTNND1	ORPHA:1997
HP:0031703	Abnormal ear morphology	90	ACVR1	OMIM:135100
HP:0031703	Abnormal ear morphology	2590	GALNT2	OMIM:618885
HP:0031703	Abnormal ear morphology	4853	NOTCH2	OMIM:102500
HP:0031703	Abnormal ear morphology	3423	IDS	ORPHA:217085
HP:0031703	Abnormal ear morphology	3423	IDS	ORPHA:217093
HP:0031703	Abnormal ear morphology	90993	CREB3L1	OMIM:616229
HP:0031703	Abnormal ear morphology	5979	RET	ORPHA:276621
HP:0031703	Abnormal ear morphology	5979	RET	ORPHA:29072
HP:0031703	Abnormal ear morphology	1788	DNMT3A	ORPHA:276621
HP:0031703	Abnormal ear morphology	2034	EPAS1	ORPHA:276621
HP:0031703	Abnormal ear morphology	6392	SDHD	ORPHA:276621
HP:0031703	Abnormal ear morphology	6392	SDHD	OMIM:168000
HP:0031703	Abnormal ear morphology	6392	SDHD	ORPHA:29072
HP:0031703	Abnormal ear morphology	6390	SDHB	ORPHA:276621
HP:0031703	Abnormal ear morphology	6390	SDHB	ORPHA:29072
HP:0031703	Abnormal ear morphology	9401	RECQL4	OMIM:218600
HP:0031703	Abnormal ear morphology	9401	RECQL4	ORPHA:1225
HP:0031703	Abnormal ear morphology	83879	CDCA7	OMIM:616910
HP:0031703	Abnormal ear morphology	9241	NOG	OMIM:185800
HP:0031703	Abnormal ear morphology	9241	NOG	ORPHA:3237
HP:0031703	Abnormal ear morphology	9241	NOG	OMIM:184460
HP:0031703	Abnormal ear morphology	9241	NOG	OMIM:186500
HP:0031703	Abnormal ear morphology	8200	GDF5	ORPHA:3237
HP:0031703	Abnormal ear morphology	2254	FGF9	ORPHA:3237
HP:0031703	Abnormal ear morphology	392255	GDF6	OMIM:118100
HP:0031703	Abnormal ear morphology	3590	IL11RA	OMIM:614188
HP:0031703	Abnormal ear morphology	1743	DLST	ORPHA:29072
HP:0031703	Abnormal ear morphology	4191	MDH2	ORPHA:29072
HP:0031703	Abnormal ear morphology	6389	SDHA	ORPHA:29072
HP:0031703	Abnormal ear morphology	23095	KIF1B	ORPHA:29072
HP:0031703	Abnormal ear morphology	2271	FH	ORPHA:29072
HP:0031703	Abnormal ear morphology	8402	SLC25A11	ORPHA:29072
HP:0031703	Abnormal ear morphology	54949	SDHAF2	ORPHA:29072
HP:0031703	Abnormal ear morphology	55654	TMEM127	ORPHA:29072
HP:0031703	Abnormal ear morphology	6391	SDHC	ORPHA:29072
HP:0031703	Abnormal ear morphology	4149	MAX	ORPHA:29072
HP:0031703	Abnormal ear morphology	5590	PRKCZ	ORPHA:1606
HP:0031703	Abnormal ear morphology	2563	GABRD	ORPHA:1606
HP:0031703	Abnormal ear morphology	23013	SPEN	ORPHA:1606
HP:0031703	Abnormal ear morphology	23013	SPEN	OMIM:619312
HP:0031703	Abnormal ear morphology	8510	MMP23B	ORPHA:1606
HP:0031703	Abnormal ear morphology	7798	LUZP1	ORPHA:1606
HP:0031703	Abnormal ear morphology	10630	PDPN	ORPHA:1606
HP:0031703	Abnormal ear morphology	3339	HSPG2	ORPHA:1606
HP:0031703	Abnormal ear morphology	10277	UBE4B	ORPHA:1606
HP:0031703	Abnormal ear morphology	8514	KCNAB2	ORPHA:1606
HP:0031703	Abnormal ear morphology	63976	PRDM16	ORPHA:1606
HP:0031703	Abnormal ear morphology	54897	CASZ1	ORPHA:1606
HP:0031703	Abnormal ear morphology	4849	CNOT3	OMIM:618672
HP:0031703	Abnormal ear morphology	11107	PRDM5	ORPHA:90354
HP:0031703	Abnormal ear morphology	84627	ZNF469	ORPHA:90354
HP:0031703	Abnormal ear morphology	55343	SLC35C1	ORPHA:99843
HP:0031703	Abnormal ear morphology	25981	DNAH1	ORPHA:244
HP:0031703	Abnormal ear morphology	115948	ODAD3	ORPHA:244
HP:0031703	Abnormal ear morphology	54768	HYDIN	ORPHA:244
HP:0031703	Abnormal ear morphology	27148	STK36	ORPHA:244
HP:0031703	Abnormal ear morphology	51314	NME8	ORPHA:244
HP:0031703	Abnormal ear morphology	92749	DRC1	ORPHA:244
HP:0031703	Abnormal ear morphology	54970	TTC12	ORPHA:244
HP:0031703	Abnormal ear morphology	8481	OFD1	ORPHA:244
HP:0031703	Abnormal ear morphology	8481	OFD1	ORPHA:791
HP:0031703	Abnormal ear morphology	8481	OFD1	OMIM:300804
HP:0031703	Abnormal ear morphology	8481	OFD1	ORPHA:2754
HP:0031703	Abnormal ear morphology	2302	FOXJ1	ORPHA:244
HP:0031703	Abnormal ear morphology	221421	RSPH9	ORPHA:244
HP:0031703	Abnormal ear morphology	85478	CCDC65	ORPHA:244
HP:0031703	Abnormal ear morphology	55036	CCDC40	ORPHA:244
HP:0031703	Abnormal ear morphology	51364	ZMYND10	ORPHA:244
HP:0031703	Abnormal ear morphology	64446	DNAI2	ORPHA:244
HP:0031703	Abnormal ear morphology	8382	NME5	ORPHA:244
HP:0031703	Abnormal ear morphology	6674	SPAG1	ORPHA:244
HP:0031703	Abnormal ear morphology	83544	DNAL1	ORPHA:244
HP:0031703	Abnormal ear morphology	89765	RSPH1	ORPHA:244
HP:0031703	Abnormal ear morphology	83538	ODAD4	ORPHA:244
HP:0031703	Abnormal ear morphology	200373	CFAP221	ORPHA:244
HP:0031703	Abnormal ear morphology	374407	DNAJB13	ORPHA:244
HP:0031703	Abnormal ear morphology	55172	DNAAF2	ORPHA:244
HP:0031703	Abnormal ear morphology	161582	DNAAF4	ORPHA:244
HP:0031703	Abnormal ear morphology	2622	GAS8	ORPHA:244
HP:0031703	Abnormal ear morphology	2622	GAS8	OMIM:616726
HP:0031703	Abnormal ear morphology	23639	DNAAF11	ORPHA:244
HP:0031703	Abnormal ear morphology	27019	DNAI1	ORPHA:244
HP:0031703	Abnormal ear morphology	27019	DNAI1	OMIM:244400
HP:0031703	Abnormal ear morphology	345895	RSPH4A	ORPHA:244
HP:0031703	Abnormal ear morphology	54919	DNAAF5	ORPHA:244
HP:0031703	Abnormal ear morphology	85452	CFAP74	ORPHA:244
HP:0031703	Abnormal ear morphology	93233	ODAD1	ORPHA:244
HP:0031703	Abnormal ear morphology	55130	ODAD2	ORPHA:244
HP:0031703	Abnormal ear morphology	1767	DNAH5	ORPHA:244
HP:0031703	Abnormal ear morphology	83861	RSPH3	ORPHA:244
HP:0031703	Abnormal ear morphology	345643	MCIDAS	ORPHA:244
HP:0031703	Abnormal ear morphology	56683	CFAP298	ORPHA:244
HP:0031703	Abnormal ear morphology	79925	SPEF2	ORPHA:244
HP:0031703	Abnormal ear morphology	10309	CCNO	ORPHA:244
HP:0031703	Abnormal ear morphology	115399	LRRC56	ORPHA:244
HP:0031703	Abnormal ear morphology	139212	DNAAF6	ORPHA:244
HP:0031703	Abnormal ear morphology	123872	DNAAF1	ORPHA:244
HP:0031703	Abnormal ear morphology	8701	DNAH11	ORPHA:244
HP:0031703	Abnormal ear morphology	1770	DNAH9	ORPHA:244
HP:0031703	Abnormal ear morphology	246176	GAS2L2	ORPHA:244
HP:0031703	Abnormal ear morphology	257	ALX3	OMIM:136760
HP:0031703	Abnormal ear morphology	25970	SH2B1	ORPHA:261197
HP:0031703	Abnormal ear morphology	2317	FLNB	OMIM:150250
HP:0031703	Abnormal ear morphology	2317	FLNB	ORPHA:503
HP:0031703	Abnormal ear morphology	196528	ARID2	OMIM:617808
HP:0031703	Abnormal ear morphology	10456	HAX1	OMIM:610738
HP:0031703	Abnormal ear morphology	9949	AMMECR1	OMIM:300990
HP:0031703	Abnormal ear morphology	92840	REEP6	ORPHA:791
HP:0031703	Abnormal ear morphology	6094	ROM1	ORPHA:791
HP:0031703	Abnormal ear morphology	6017	RLBP1	ORPHA:791
HP:0031703	Abnormal ear morphology	24	ABCA4	ORPHA:791
HP:0031703	Abnormal ear morphology	130557	ZNF513	ORPHA:791
HP:0031703	Abnormal ear morphology	92211	CDHR1	ORPHA:791
HP:0031703	Abnormal ear morphology	23568	ARL2BP	ORPHA:791
HP:0031703	Abnormal ear morphology	6121	RPE65	ORPHA:791
HP:0031703	Abnormal ear morphology	54806	AHI1	ORPHA:791
HP:0031703	Abnormal ear morphology	6101	RP1	ORPHA:791
HP:0031703	Abnormal ear morphology	3419	IDH3A	ORPHA:791
HP:0031703	Abnormal ear morphology	4751	NEK2	ORPHA:791
HP:0031703	Abnormal ear morphology	346007	EYS	ORPHA:791
HP:0031703	Abnormal ear morphology	8100	IFT88	ORPHA:791
HP:0031703	Abnormal ear morphology	23020	SNRNP200	ORPHA:791
HP:0031703	Abnormal ear morphology	762	CA4	ORPHA:791
HP:0031703	Abnormal ear morphology	138050	HGSNAT	ORPHA:791
HP:0031703	Abnormal ear morphology	196	AHR	ORPHA:791
HP:0031703	Abnormal ear morphology	3614	IMPDH1	ORPHA:791
HP:0031703	Abnormal ear morphology	1406	CRX	ORPHA:791
HP:0031703	Abnormal ear morphology	5148	PDE6G	ORPHA:791
HP:0031703	Abnormal ear morphology	26121	PRPF31	ORPHA:791
HP:0031703	Abnormal ear morphology	4117	MAK	ORPHA:791
HP:0031703	Abnormal ear morphology	25794	FSCN2	ORPHA:791
HP:0031703	Abnormal ear morphology	375298	CERKL	ORPHA:791
HP:0031703	Abnormal ear morphology	3420	IDH3B	ORPHA:791
HP:0031703	Abnormal ear morphology	57670	KIAA1549	ORPHA:791
HP:0031703	Abnormal ear morphology	7275	TUB	ORPHA:791
HP:0031703	Abnormal ear morphology	24148	PRPF6	ORPHA:791
HP:0031703	Abnormal ear morphology	23418	CRB1	ORPHA:791
HP:0031703	Abnormal ear morphology	10461	MERTK	ORPHA:791
HP:0031703	Abnormal ear morphology	57709	SLC7A14	ORPHA:791
HP:0031703	Abnormal ear morphology	768206	PRCD	ORPHA:791
HP:0031703	Abnormal ear morphology	23370	ARHGEF18	ORPHA:791
HP:0031703	Abnormal ear morphology	5949	RBP3	ORPHA:791
HP:0031703	Abnormal ear morphology	6010	RHO	ORPHA:791
HP:0031703	Abnormal ear morphology	6100	RP9	ORPHA:791
HP:0031703	Abnormal ear morphology	10002	NR2E3	ORPHA:791
HP:0031703	Abnormal ear morphology	9227	LRAT	ORPHA:791
HP:0031703	Abnormal ear morphology	84140	FAM161A	ORPHA:791
HP:0031703	Abnormal ear morphology	55812	SPATA7	ORPHA:791
HP:0031703	Abnormal ear morphology	79797	ZNF408	ORPHA:791
HP:0031703	Abnormal ear morphology	403	ARL3	ORPHA:791
HP:0031703	Abnormal ear morphology	5145	PDE6A	ORPHA:791
HP:0031703	Abnormal ear morphology	10210	TOPORS	ORPHA:791
HP:0031703	Abnormal ear morphology	10210	TOPORS	ORPHA:2754
HP:0031703	Abnormal ear morphology	8842	PROM1	ORPHA:791
HP:0031703	Abnormal ear morphology	9128	PRPF4	ORPHA:791
HP:0031703	Abnormal ear morphology	145226	RDH12	ORPHA:791
HP:0031703	Abnormal ear morphology	50939	IMPG2	ORPHA:791
HP:0031703	Abnormal ear morphology	57545	CC2D2A	ORPHA:791
HP:0031703	Abnormal ear morphology	9742	IFT140	ORPHA:791
HP:0031703	Abnormal ear morphology	2979	GUCA1B	ORPHA:791
HP:0031703	Abnormal ear morphology	1259	CNGA1	ORPHA:791
HP:0031703	Abnormal ear morphology	1258	CNGB1	ORPHA:791
HP:0031703	Abnormal ear morphology	60509	AGBL5	ORPHA:791
HP:0031703	Abnormal ear morphology	5961	PRPH2	ORPHA:791
HP:0031703	Abnormal ear morphology	388939	PCARE	ORPHA:791
HP:0031703	Abnormal ear morphology	7439	BEST1	ORPHA:791
HP:0031703	Abnormal ear morphology	9785	DHX38	ORPHA:791
HP:0031703	Abnormal ear morphology	7287	TULP1	ORPHA:791
HP:0031703	Abnormal ear morphology	5995	RGR	ORPHA:791
HP:0031703	Abnormal ear morphology	9129	PRPF3	ORPHA:791
HP:0031703	Abnormal ear morphology	55975	KLHL7	ORPHA:791
HP:0031703	Abnormal ear morphology	3617	IMPG1	ORPHA:791
HP:0031703	Abnormal ear morphology	94137	RP1L1	ORPHA:791
HP:0031703	Abnormal ear morphology	5158	PDE6B	ORPHA:791
HP:0031703	Abnormal ear morphology	6102	RP2	ORPHA:791
HP:0031703	Abnormal ear morphology	55857	KIZ	ORPHA:791
HP:0031703	Abnormal ear morphology	64218	SEMA4A	ORPHA:791
HP:0031703	Abnormal ear morphology	4901	NRL	ORPHA:791
HP:0031703	Abnormal ear morphology	10594	PRPF8	ORPHA:791
HP:0031703	Abnormal ear morphology	6295	SAG	ORPHA:791
HP:0031703	Abnormal ear morphology	79947	DHDDS	ORPHA:791
HP:0031703	Abnormal ear morphology	5396	PRRX1	OMIM:202650
HP:0031703	Abnormal ear morphology	11267	SNF8	OMIM:620784
HP:0031703	Abnormal ear morphology	7314	UBB	ORPHA:99772
HP:0031703	Abnormal ear morphology	7314	UBB	ORPHA:101023
HP:0031703	Abnormal ear morphology	57822	GRHL3	ORPHA:99772
HP:0031703	Abnormal ear morphology	57822	GRHL3	ORPHA:101023
HP:0031703	Abnormal ear morphology	55033	FKBP14	OMIM:614557
HP:0031703	Abnormal ear morphology	2077	ERF	ORPHA:207
HP:0031703	Abnormal ear morphology	1312	COMT	ORPHA:567
HP:0031703	Abnormal ear morphology	221037	JMJD1C	ORPHA:567
HP:0031703	Abnormal ear morphology	2812	GP1BB	ORPHA:567
HP:0031703	Abnormal ear morphology	6239	RREB1	ORPHA:567
HP:0031703	Abnormal ear morphology	7290	HIRA	ORPHA:567
HP:0031703	Abnormal ear morphology	9632	SEC24C	ORPHA:567
HP:0031703	Abnormal ear morphology	7353	UFD1	ORPHA:567
HP:0031703	Abnormal ear morphology	421	ARVCF	ORPHA:567
HP:0031703	Abnormal ear morphology	774	CACNA1B	OMIM:618497
HP:0031703	Abnormal ear morphology	139285	AMER1	ORPHA:2780
HP:0031703	Abnormal ear morphology	139285	AMER1	OMIM:300373
HP:0031703	Abnormal ear morphology	2300	FOXL1	OMIM:620576
HP:0031703	Abnormal ear morphology	4613	MYCN	ORPHA:391641
HP:0031703	Abnormal ear morphology	29957	SLC25A24	ORPHA:2095
HP:0031703	Abnormal ear morphology	29957	SLC25A24	OMIM:612289
HP:0031703	Abnormal ear morphology	65250	CPLANE1	OMIM:277170
HP:0031703	Abnormal ear morphology	65250	CPLANE1	ORPHA:2754
HP:0031703	Abnormal ear morphology	8092	ALX1	ORPHA:306542
HP:0031703	Abnormal ear morphology	28962	OSTM1	ORPHA:85179
HP:0031703	Abnormal ear morphology	100996717	NOTCH2NLC	OMIM:619473
HP:0031703	Abnormal ear morphology	246329	STAC3	ORPHA:168572
HP:0031703	Abnormal ear morphology	246329	STAC3	OMIM:255995
HP:0031703	Abnormal ear morphology	2706	GJB2	OMIM:304400
HP:0031703	Abnormal ear morphology	10804	GJB6	OMIM:304400
HP:0031703	Abnormal ear morphology	4000	LMNA	ORPHA:740
HP:0031703	Abnormal ear morphology	10269	ZMPSTE24	ORPHA:740
HP:0031703	Abnormal ear morphology	4041	LRP5	OMIM:607634
HP:0031703	Abnormal ear morphology	650	BMP2	OMIM:617877
HP:0031703	Abnormal ear morphology	5286	PIK3C2A	ORPHA:557003
HP:0031703	Abnormal ear morphology	79583	TMEM231	ORPHA:2754
HP:0031703	Abnormal ear morphology	9851	KIAA0753	ORPHA:2754
HP:0031703	Abnormal ear morphology	5147	PDE6D	ORPHA:2754
HP:0031703	Abnormal ear morphology	51259	TMEM216	ORPHA:2754
HP:0031703	Abnormal ear morphology	317662	FAM149B1	ORPHA:2754
HP:0031703	Abnormal ear morphology	6091	ROBO1	OMIM:620305
HP:0031703	Abnormal ear morphology	166929	SGMS2	OMIM:126550
HP:0031703	Abnormal ear morphology	415	ARSL	ORPHA:79345
HP:0031703	Abnormal ear morphology	55755	CDK5RAP2	OMIM:604804
HP:0031703	Abnormal ear morphology	84173	ELMOD3	OMIM:615429
HP:0031703	Abnormal ear morphology	55294	FBXW7	OMIM:620012
HP:0031703	Abnormal ear morphology	26235	FBXL4	OMIM:615471
HP:0031703	Abnormal ear morphology	10054	UBA2	OMIM:619959
HP:0031703	Abnormal ear morphology	9820	CUL7	ORPHA:2616
HP:0031703	Abnormal ear morphology	23363	OBSL1	ORPHA:2616
HP:0031703	Abnormal ear morphology	23363	OBSL1	OMIM:612921
HP:0031703	Abnormal ear morphology	83987	CCDC8	ORPHA:2616
HP:0031703	Abnormal ear morphology	83987	CCDC8	OMIM:614205
HP:0031703	Abnormal ear morphology	55627	SMPD4	OMIM:618622
HP:0031703	Abnormal ear morphology	7021	TFAP2B	OMIM:169100
HP:0031703	Abnormal ear morphology	3190	HNRNPK	ORPHA:453504
HP:0031703	Abnormal ear morphology	3190	HNRNPK	ORPHA:352665
HP:0031703	Abnormal ear morphology	3481	IGF2	ORPHA:231140
HP:0031703	Abnormal ear morphology	283120	H19	ORPHA:231140
HP:0031703	Abnormal ear morphology	170302	ARX	OMIM:300004
HP:0031703	Abnormal ear morphology	170302	ARX	ORPHA:2508
HP:0031703	Abnormal ear morphology	27245	AHDC1	ORPHA:412069
HP:0031703	Abnormal ear morphology	27245	AHDC1	OMIM:615829
HP:0031703	Abnormal ear morphology	24142	NAA80	OMIM:620830
HP:0031703	Abnormal ear morphology	4038	LRP4	ORPHA:3258
HP:0031703	Abnormal ear morphology	324	APC	ORPHA:3258
HP:0031703	Abnormal ear morphology	6197	RPS6KA3	OMIM:303600
HP:0031703	Abnormal ear morphology	6197	RPS6KA3	ORPHA:192
HP:0031703	Abnormal ear morphology	818	CAMK2G	OMIM:618522
HP:0031703	Abnormal ear morphology	1281	COL3A1	ORPHA:286
HP:0031703	Abnormal ear morphology	4763	NF1	ORPHA:363700
HP:0031703	Abnormal ear morphology	3340	NDST1	OMIM:616116
HP:0031703	Abnormal ear morphology	1954	MEGF8	OMIM:614976
HP:0031703	Abnormal ear morphology	649	BMP1	OMIM:614856
HP:0031703	Abnormal ear morphology	55361	PI4K2A	OMIM:620732
HP:0031703	Abnormal ear morphology	3981	LIG4	ORPHA:235
HP:0031703	Abnormal ear morphology	54888	NSUN2	ORPHA:235
HP:0031703	Abnormal ear morphology	7809	BSND	ORPHA:89938
HP:0031703	Abnormal ear morphology	1188	CLCNKB	ORPHA:89938
HP:0031703	Abnormal ear morphology	1187	CLCNKA	ORPHA:89938
HP:0031703	Abnormal ear morphology	7025	NR2F1	ORPHA:401777
HP:0031703	Abnormal ear morphology	7025	NR2F1	OMIM:615722
HP:0031703	Abnormal ear morphology	51114	ZDHHC9	OMIM:300799
HP:0031703	Abnormal ear morphology	51114	ZDHHC9	ORPHA:776
HP:0031703	Abnormal ear morphology	55621	TRMT1	OMIM:618302
HP:0031703	Abnormal ear morphology	23137	SMC5	OMIM:620185
HP:0031703	Abnormal ear morphology	10907	TXNL4A	OMIM:608572
HP:0031703	Abnormal ear morphology	55027	HEATR3	OMIM:620072
HP:0031703	Abnormal ear morphology	283209	PGM2L1	OMIM:620191
HP:0031703	Abnormal ear morphology	163175	LGI4	OMIM:617468
HP:0031703	Abnormal ear morphology	641	BLM	OMIM:210900
HP:0031703	Abnormal ear morphology	23261	CAMTA1	OMIM:614756
HP:0031703	Abnormal ear morphology	200424	TET3	OMIM:618798
HP:0031703	Abnormal ear morphology	55691	FRMD4A	OMIM:616819
HP:0031703	Abnormal ear morphology	2556	GABRA3	OMIM:301091
HP:0031703	Abnormal ear morphology	23162	MAPK8IP3	OMIM:618443
HP:0031703	Abnormal ear morphology	79989	IFT56	OMIM:619534
HP:0031703	Abnormal ear morphology	7140	TNNT3	ORPHA:1147
HP:0031703	Abnormal ear morphology	4621	MYH3	ORPHA:1147
HP:0031703	Abnormal ear morphology	7169	TPM2	ORPHA:1147
HP:0031703	Abnormal ear morphology	7136	TNNI2	ORPHA:1147
HP:0031703	Abnormal ear morphology	84168	ANTXR1	OMIM:230740
HP:0031703	Abnormal ear morphology	10516	FBLN5	ORPHA:90348
HP:0031703	Abnormal ear morphology	85459	CEP295	OMIM:620767
HP:0031703	Abnormal ear morphology	404672	GTF2H5	ORPHA:33364
HP:0031703	Abnormal ear morphology	833	CARS1	ORPHA:33364
HP:0031703	Abnormal ear morphology	7737	RNF113A	ORPHA:33364
HP:0031703	Abnormal ear morphology	6897	TARS1	ORPHA:33364
HP:0031703	Abnormal ear morphology	16	AARS1	ORPHA:33364
HP:0031703	Abnormal ear morphology	16	AARS1	OMIM:619691
HP:0031703	Abnormal ear morphology	2071	ERCC3	ORPHA:33364
HP:0031703	Abnormal ear morphology	2961	GTF2E2	ORPHA:33364
HP:0031703	Abnormal ear morphology	6509	SLC1A4	ORPHA:447997
HP:0031703	Abnormal ear morphology	80067	DCAF17	OMIM:241080
HP:0031703	Abnormal ear morphology	1387	CREBBP	OMIM:618332
HP:0031703	Abnormal ear morphology	5781	PTPN11	OMIM:151100
HP:0031703	Abnormal ear morphology	9775	EIF4A3	OMIM:268305
HP:0031703	Abnormal ear morphology	26173	INTS1	OMIM:618571
HP:0031703	Abnormal ear morphology	2703	GJA8	OMIM:612474
HP:0031703	Abnormal ear morphology	2702	GJA5	OMIM:612474
HP:0031703	Abnormal ear morphology	7046	TGFBR1	OMIM:609192
HP:0031703	Abnormal ear morphology	2200	FBN1	ORPHA:2462
HP:0031703	Abnormal ear morphology	3720	JARID2	OMIM:620098
HP:0031703	Abnormal ear morphology	274	BIN1	ORPHA:169186
HP:0031703	Abnormal ear morphology	10290	SPEG	ORPHA:169186
HP:0031703	Abnormal ear morphology	6261	RYR1	ORPHA:169186
HP:0031703	Abnormal ear morphology	7273	TTN	ORPHA:169186
HP:0031703	Abnormal ear morphology	1291	COL6A1	OMIM:254090
HP:0031703	Abnormal ear morphology	54517	PUS7	OMIM:618342
HP:0031703	Abnormal ear morphology	2335	FN1	ORPHA:93315
HP:0031703	Abnormal ear morphology	2290	FOXG1	OMIM:613454
HP:0031703	Abnormal ear morphology	2290	FOXG1	ORPHA:261144
HP:0031703	Abnormal ear morphology	55628	ZNF407	OMIM:619557
HP:0031703	Abnormal ear morphology	91179	SCARF2	OMIM:600920
HP:0031703	Abnormal ear morphology	29998	BICRA	OMIM:619325
HP:0031703	Abnormal ear morphology	6651	SON	OMIM:617140
HP:0031703	Abnormal ear morphology	6651	SON	ORPHA:500150
HP:0031703	Abnormal ear morphology	4081	MAB21L1	OMIM:618479
HP:0031703	Abnormal ear morphology	65109	UPF3B	ORPHA:776
HP:0031703	Abnormal ear morphology	4952	OCRL	ORPHA:534
HP:0031703	Abnormal ear morphology	84892	POMGNT2	ORPHA:899
HP:0031703	Abnormal ear morphology	148789	B3GALNT2	ORPHA:899
HP:0031703	Abnormal ear morphology	1282	COL4A1	ORPHA:899
HP:0031703	Abnormal ear morphology	729920	CRPPA	ORPHA:899
HP:0031703	Abnormal ear morphology	10329	RXYLT1	ORPHA:899
HP:0031703	Abnormal ear morphology	1605	DAG1	ORPHA:899
HP:0031703	Abnormal ear morphology	11041	B4GAT1	ORPHA:899
HP:0031703	Abnormal ear morphology	84197	POMK	ORPHA:899
HP:0031703	Abnormal ear morphology	55624	POMGNT1	ORPHA:899
HP:0031703	Abnormal ear morphology	5925	RB1	ORPHA:1587
HP:0031703	Abnormal ear morphology	5831	PYCR1	OMIM:612940
HP:0031703	Abnormal ear morphology	55764	IFT122	OMIM:218330
HP:0031703	Abnormal ear morphology	5422	POLA1	OMIM:301030
HP:0031703	Abnormal ear morphology	9496	TBX4	ORPHA:261279
HP:0031703	Abnormal ear morphology	79576	NKAP	OMIM:301039
HP:0031703	Abnormal ear morphology	51305	KCNK9	ORPHA:166108
HP:0031703	Abnormal ear morphology	2707	GJB3	ORPHA:317
HP:0031703	Abnormal ear morphology	2531	KDSR	ORPHA:317
HP:0031703	Abnormal ear morphology	127534	GJB4	ORPHA:317
HP:0031703	Abnormal ear morphology	57572	DOCK6	OMIM:614219
HP:0031703	Abnormal ear morphology	64864	RFX7	OMIM:620330
HP:0031703	Abnormal ear morphology	10847	SRCAP	OMIM:619595
HP:0031703	Abnormal ear morphology	1213	CLTC	OMIM:617854
HP:0031703	Abnormal ear morphology	54361	WNT4	ORPHA:247768
HP:0031703	Abnormal ear morphology	285590	SH3PXD2B	ORPHA:137834
HP:0031703	Abnormal ear morphology	285590	SH3PXD2B	OMIM:249420
HP:0031703	Abnormal ear morphology	5293	PIK3CD	ORPHA:221139
HP:0031703	Abnormal ear morphology	90417	KNSTRN	ORPHA:221139
HP:0031703	Abnormal ear morphology	8405	SPOP	OMIM:618829
HP:0031703	Abnormal ear morphology	2131	EXT1	ORPHA:502
HP:0031703	Abnormal ear morphology	55617	TASP1	OMIM:618950
HP:0031703	Abnormal ear morphology	90416	CCDC32	OMIM:619123
HP:0031703	Abnormal ear morphology	2260	FGFR1	ORPHA:2645
HP:0031703	Abnormal ear morphology	3832	KIF11	ORPHA:2526
HP:0031703	Abnormal ear morphology	3832	KIF11	OMIM:152950
HP:0031703	Abnormal ear morphology	54676	GTPBP2	OMIM:617988
HP:0031703	Abnormal ear morphology	23529	CLCF1	OMIM:610313
HP:0031703	Abnormal ear morphology	80267	EDEM3	OMIM:619493
HP:0031703	Abnormal ear morphology	1748	DLX4	OMIM:616788
HP:0031703	Abnormal ear morphology	1804	DPP6	ORPHA:2514
HP:0031703	Abnormal ear morphology	4001	LMNB1	ORPHA:2514
HP:0031703	Abnormal ear morphology	85378	TUBGCP6	ORPHA:2518
HP:0031703	Abnormal ear morphology	27229	TUBGCP4	ORPHA:2518
HP:0031703	Abnormal ear morphology	84081	NSRP1	OMIM:620001
HP:0031703	Abnormal ear morphology	4750	NEK1	ORPHA:2751
HP:0031703	Abnormal ear morphology	139886	SPIN4	OMIM:301114
HP:0031703	Abnormal ear morphology	57647	DHX37	OMIM:618731
HP:0031703	Abnormal ear morphology	101929726	MYMX	OMIM:619941
HP:0031703	Abnormal ear morphology	5699	PSMB10	OMIM:620807
HP:0031703	Abnormal ear morphology	57728	WDR19	OMIM:614378
HP:0031703	Abnormal ear morphology	10844	TUBGCP2	OMIM:618737
HP:0031703	Abnormal ear morphology	23476	BRD4	ORPHA:199
HP:0031703	Abnormal ear morphology	9126	SMC3	ORPHA:199
HP:0031703	Abnormal ear morphology	8243	SMC1A	ORPHA:199
HP:0031703	Abnormal ear morphology	6878	TAF6	ORPHA:199
HP:0031703	Abnormal ear morphology	25836	NIPBL	ORPHA:199
HP:0031703	Abnormal ear morphology	55869	HDAC8	ORPHA:199
HP:0031703	Abnormal ear morphology	5885	RAD21	ORPHA:199
HP:0031703	Abnormal ear morphology	2737	GLI3	ORPHA:672
HP:0031703	Abnormal ear morphology	2737	GLI3	OMIM:146510
HP:0031703	Abnormal ear morphology	10194	TSHZ1	OMIM:607842
HP:0031703	Abnormal ear morphology	6135	RPL11	OMIM:612562
HP:0031703	Abnormal ear morphology	10992	SF3B2	OMIM:164210
HP:0031703	Abnormal ear morphology	526	ATP6V1B2	ORPHA:79500
HP:0031703	Abnormal ear morphology	57465	TBC1D24	ORPHA:79500
HP:0031703	Abnormal ear morphology	145258	GSC	OMIM:602471
HP:0031703	Abnormal ear morphology	6628	SNRPB	ORPHA:1393
HP:0031703	Abnormal ear morphology	6231	RPS26	OMIM:613309
HP:0031703	Abnormal ear morphology	29954	POMT2	OMIM:236670
HP:0031703	Abnormal ear morphology	79147	FKRP	OMIM:236670
HP:0031703	Abnormal ear morphology	2218	FKTN	OMIM:236670
HP:0031703	Abnormal ear morphology	10585	POMT1	OMIM:236670
HP:0031703	Abnormal ear morphology	9215	LARGE1	OMIM:236670
HP:0031703	Abnormal ear morphology	10735	STAG2	OMIM:301022
HP:0031703	Abnormal ear morphology	5075	PAX1	ORPHA:2792
HP:0031703	Abnormal ear morphology	90121	TSR2	OMIM:300946
HP:0031703	Abnormal ear morphology	4921	DDR2	OMIM:618175
HP:0031703	Abnormal ear morphology	56992	KIF15	OMIM:619981
HP:0031703	Abnormal ear morphology	4854	NOTCH3	ORPHA:2789
HP:0031703	Abnormal ear morphology	2065	ERBB3	OMIM:243180
HP:0031703	Abnormal ear morphology	8642	DCHS1	OMIM:601390
HP:0031703	Abnormal ear morphology	30000	TNPO2	OMIM:619556
HP:0031703	Abnormal ear morphology	9131	AIFM1	OMIM:300614
HP:0031703	Abnormal ear morphology	1146	CHRNG	OMIM:265000
HP:0031703	Abnormal ear morphology	10526	IPO8	OMIM:619472
HP:0031703	Abnormal ear morphology	207	AKT1	ORPHA:744
HP:0031703	Abnormal ear morphology	1690	COCH	OMIM:601369
HP:0031703	Abnormal ear morphology	5167	ENPP1	ORPHA:51608
HP:0031703	Abnormal ear morphology	368	ABCC6	ORPHA:51608
HP:0031703	Abnormal ear morphology	9894	TELO2	ORPHA:488642
HP:0031703	Abnormal ear morphology	3784	KCNQ1	OMIM:130650
HP:0031703	Abnormal ear morphology	10984	KCNQ1OT1	OMIM:130650
HP:0031703	Abnormal ear morphology	1371	CPOX	ORPHA:79273
HP:0031703	Abnormal ear morphology	9692	PRORP	OMIM:619737
HP:0031703	Abnormal ear morphology	81624	DIAPH3	OMIM:609129
HP:0031703	Abnormal ear morphology	9381	OTOF	OMIM:601071
HP:0031703	Abnormal ear morphology	9526	MPDU1	ORPHA:79323
HP:0031703	Abnormal ear morphology	5339	PLEC	ORPHA:158684
HP:0031703	Abnormal ear morphology	5339	PLEC	OMIM:612138
HP:0031703	Abnormal ear morphology	3691	ITGB4	ORPHA:158684
HP:0031703	Abnormal ear morphology	2629	GBA1	OMIM:608013
HP:0031703	Abnormal ear morphology	51099	ABHD5	OMIM:275630
HP:0031703	Abnormal ear morphology	51506	UFC1	OMIM:618076
HP:0031703	Abnormal ear morphology	55788	LMBRD1	OMIM:277380
HP:0031703	Abnormal ear morphology	9739	SETD1A	OMIM:619056
HP:0031703	Abnormal ear morphology	83871	RAB34	OMIM:620718
HP:0031703	Abnormal ear morphology	9469	CHST3	OMIM:143095
HP:0031703	Abnormal ear morphology	9469	CHST3	OMIM:245600
HP:0031703	Abnormal ear morphology	815	CAMK2A	OMIM:617798
HP:0031703	Abnormal ear morphology	54872	PIGG	ORPHA:280
HP:0031703	Abnormal ear morphology	7469	NELFA	ORPHA:280
HP:0031703	Abnormal ear morphology	4174	MCM5	OMIM:617564
HP:0031703	Abnormal ear morphology	51199	NIN	OMIM:614851
HP:0031703	Abnormal ear morphology	51199	NIN	ORPHA:319675
HP:0031703	Abnormal ear morphology	175	AGA	ORPHA:93
HP:0031703	Abnormal ear morphology	55719	SLF2	OMIM:620184
HP:0031703	Abnormal ear morphology	4089	SMAD4	OMIM:139210
HP:0031703	Abnormal ear morphology	7750	ZMYM2	OMIM:619522
HP:0031703	Abnormal ear morphology	81887	LAS1L	ORPHA:3459
HP:0031703	Abnormal ear morphology	51163	DBR1	OMIM:620510
HP:0031703	Abnormal ear morphology	388015	RTL1	ORPHA:96334
HP:0031703	Abnormal ear morphology	8788	DLK1	ORPHA:96334
HP:0031703	Abnormal ear morphology	55384	MEG3	ORPHA:96334
HP:0031703	Abnormal ear morphology	4920	ROR2	OMIM:268310
HP:0031703	Abnormal ear morphology	4123	MAN2C1	OMIM:619775
HP:0031703	Abnormal ear morphology	9652	SKIC3	OMIM:222470
HP:0031703	Abnormal ear morphology	546	ATRX	OMIM:309580
HP:0031703	Abnormal ear morphology	546	ATRX	OMIM:301040
HP:0031703	Abnormal ear morphology	4488	MSX2	OMIM:168550
HP:0031703	Abnormal ear morphology	6138	RPL15	ORPHA:124
HP:0031703	Abnormal ear morphology	6224	RPS20	ORPHA:124
HP:0031703	Abnormal ear morphology	6165	RPL35A	ORPHA:124
HP:0031703	Abnormal ear morphology	6132	RPL8	ORPHA:124
HP:0031703	Abnormal ear morphology	6223	RPS19	ORPHA:124
HP:0031703	Abnormal ear morphology	6232	RPS27	ORPHA:124
HP:0031703	Abnormal ear morphology	6160	RPL31	ORPHA:124
HP:0031703	Abnormal ear morphology	6201	RPS7	ORPHA:124
HP:0031703	Abnormal ear morphology	6155	RPL27	ORPHA:124
HP:0031703	Abnormal ear morphology	6229	RPS24	ORPHA:124
HP:0031703	Abnormal ear morphology	6125	RPL5	ORPHA:124
HP:0031703	Abnormal ear morphology	6204	RPS10	ORPHA:124
HP:0031703	Abnormal ear morphology	2623	GATA1	ORPHA:124
HP:0031703	Abnormal ear morphology	6133	RPL9	ORPHA:124
HP:0031703	Abnormal ear morphology	11224	RPL35	ORPHA:124
HP:0031703	Abnormal ear morphology	6218	RPS17	ORPHA:124
HP:0031703	Abnormal ear morphology	6210	RPS15A	ORPHA:124
HP:0031703	Abnormal ear morphology	6141	RPL18	ORPHA:124
HP:0031703	Abnormal ear morphology	6235	RPS29	ORPHA:124
HP:0031703	Abnormal ear morphology	51816	ADA2	ORPHA:124
HP:0031703	Abnormal ear morphology	51025	PAM16	OMIM:613320
HP:0031703	Abnormal ear morphology	5426	POLE	OMIM:618336
HP:0031703	Abnormal ear morphology	11338	U2AF2	OMIM:620535
HP:0031703	Abnormal ear morphology	6477	SIAH1	OMIM:619314
HP:0031703	Abnormal ear morphology	89970	RSPRY1	OMIM:616723
HP:0031703	Abnormal ear morphology	7473	WNT3	ORPHA:3301
HP:0031703	Abnormal ear morphology	340419	RSPO2	ORPHA:3301
HP:0031703	Abnormal ear morphology	3313	HSPA9	OMIM:616854
HP:0031703	Abnormal ear morphology	3097	HIVEP2	OMIM:616977
HP:0031703	Abnormal ear morphology	4131	MAP1B	OMIM:618918
HP:0031703	Abnormal ear morphology	90161	HS6ST2	OMIM:301025
HP:0031703	Abnormal ear morphology	344167	FOXI3	OMIM:620444
HP:0031703	Abnormal ear morphology	3209	HOXA13	ORPHA:2438
HP:0031703	Abnormal ear morphology	2248	FGF3	ORPHA:90024
HP:0031703	Abnormal ear morphology	5718	PSMD12	ORPHA:529962
HP:0031703	Abnormal ear morphology	2186	BPTF	ORPHA:529962
HP:0031703	Abnormal ear morphology	1974	EIF4A2	OMIM:620455
HP:0031703	Abnormal ear morphology	5058	PAK1	OMIM:618158
HP:0031703	Abnormal ear morphology	60	ACTB	OMIM:620475
HP:0031703	Abnormal ear morphology	55835	CPAP	OMIM:608393
HP:0031703	Abnormal ear morphology	3655	ITGA6	OMIM:619817
HP:0031703	Abnormal ear morphology	5557	PRIM1	OMIM:620005
HP:0031703	Abnormal ear morphology	5965	RECQL	OMIM:620370
HP:0031703	Abnormal ear morphology	26229	B3GAT3	OMIM:245600
HP:0031703	Abnormal ear morphology	7388	UQCRH	OMIM:620137
HP:0031703	Abnormal ear morphology	25886	POC1A	OMIM:614813
HP:0031703	Abnormal ear morphology	6535	SLC6A8	OMIM:300352
HP:0031703	Abnormal ear morphology	27086	FOXP1	ORPHA:391372
HP:0031703	Abnormal ear morphology	27161	AGO2	OMIM:619149
HP:0031703	Abnormal ear morphology	5053	PAH	ORPHA:2209
HP:0031703	Abnormal ear morphology	10026	PIGK	OMIM:618879
HP:0031703	Abnormal ear morphology	1513	CTSK	ORPHA:763
HP:0031703	Abnormal ear morphology	3735	KARS1	OMIM:613641
HP:0031703	Abnormal ear morphology	11235	PDCD10	ORPHA:221061
HP:0031703	Abnormal ear morphology	5290	PIK3CA	ORPHA:221061
HP:0031703	Abnormal ear morphology	83605	CCM2	ORPHA:221061
HP:0031703	Abnormal ear morphology	889	KRIT1	ORPHA:221061
HP:0031703	Abnormal ear morphology	161742	SPRED1	ORPHA:137605
HP:0031703	Abnormal ear morphology	3265	HRAS	OMIM:218040
HP:0031703	Abnormal ear morphology	6598	SMARCB1	OMIM:162091
HP:0031703	Abnormal ear morphology	4771	NF2	OMIM:101000
HP:0031703	Abnormal ear morphology	51004	COQ6	ORPHA:93921
HP:0031703	Abnormal ear morphology	23522	KAT6B	ORPHA:3047
HP:0031703	Abnormal ear morphology	64132	XYLT2	ORPHA:85194
HP:0031703	Abnormal ear morphology	2121	EVC	ORPHA:952
HP:0031703	Abnormal ear morphology	132884	EVC2	ORPHA:952
HP:0031703	Abnormal ear morphology	8241	RBM10	ORPHA:2886
HP:0031703	Abnormal ear morphology	10157	AASS	ORPHA:2203
HP:0031703	Abnormal ear morphology	55275	VPS53	OMIM:615851
HP:0031703	Abnormal ear morphology	7358	UGDH	OMIM:618792
HP:0031703	Abnormal ear morphology	7453	WARS1	OMIM:620317
HP:0031703	Abnormal ear morphology	51085	MLXIPL	OMIM:194050
HP:0031703	Abnormal ear morphology	6850	SYK	OMIM:619381
HP:0031703	Abnormal ear morphology	4784	NFIX	OMIM:602535
HP:0031703	Abnormal ear morphology	7080	NKX2-1	OMIM:610978
HP:0031703	Abnormal ear morphology	54914	FOCAD	OMIM:619991
HP:0031703	Abnormal ear morphology	10297	APC2	ORPHA:821
HP:0031703	Abnormal ear morphology	7840	ALMS1	ORPHA:64
HP:0031703	Abnormal ear morphology	3782	KCNN3	ORPHA:3473
HP:0031703	Abnormal ear morphology	3767	KCNJ11	ORPHA:79134
HP:0031703	Abnormal ear morphology	79731	NARS2	ORPHA:79134
HP:0031703	Abnormal ear morphology	6833	ABCC8	ORPHA:79134
HP:0031703	Abnormal ear morphology	10908	PNPLA6	ORPHA:2377
HP:0031703	Abnormal ear morphology	9361	LONP1	OMIM:600373
HP:0031703	Abnormal ear morphology	9361	LONP1	ORPHA:1458
HP:0031703	Abnormal ear morphology	2201	FBN2	OMIM:121050
HP:0031703	Abnormal ear morphology	2201	FBN2	ORPHA:115
HP:0031703	Abnormal ear morphology	23184	MESD	OMIM:618644
HP:0031703	Abnormal ear morphology	2334	AFF2	ORPHA:100973
HP:0031703	Abnormal ear morphology	91452	ACBD5	OMIM:618863
HP:0031703	Abnormal ear morphology	157680	VPS13B	ORPHA:193
HP:0031703	Abnormal ear morphology	9091	PIGQ	OMIM:618548
HP:0031703	Abnormal ear morphology	11141	IL1RAPL1	OMIM:300143
HP:0031703	Abnormal ear morphology	79813	EHMT1	ORPHA:261652
HP:0031703	Abnormal ear morphology	58508	KMT2C	ORPHA:261652
HP:0031703	Abnormal ear morphology	51741	WWOX	OMIM:616211
HP:0031703	Abnormal ear morphology	5277	PIGA	OMIM:300868
HP:0031703	Abnormal ear morphology	6602	SMARCD1	OMIM:618779
HP:0031703	Abnormal ear morphology	140679	SLC32A1	OMIM:620774
HP:0031703	Abnormal ear morphology	100151683	RNU4ATAC	ORPHA:2636
HP:0031703	Abnormal ear morphology	2239	GPC4	ORPHA:373
HP:0031703	Abnormal ear morphology	2719	GPC3	ORPHA:373
HP:0031703	Abnormal ear morphology	23384	SPECC1L	ORPHA:1519
HP:0031703	Abnormal ear morphology	151516	ASPRV1	ORPHA:313
HP:0031703	Abnormal ear morphology	242	ALOX12B	ORPHA:313
HP:0031703	Abnormal ear morphology	126410	CYP4F22	ORPHA:313
HP:0031703	Abnormal ear morphology	6820	SULT2B1	ORPHA:313
HP:0031703	Abnormal ear morphology	26154	ABCA12	ORPHA:313
HP:0031703	Abnormal ear morphology	643418	LIPN	ORPHA:313
HP:0031703	Abnormal ear morphology	59344	ALOXE3	ORPHA:313
HP:0031703	Abnormal ear morphology	348938	NIPAL4	ORPHA:313
HP:0031703	Abnormal ear morphology	121214	SDR9C7	ORPHA:313
HP:0031703	Abnormal ear morphology	7051	TGM1	ORPHA:313
HP:0031703	Abnormal ear morphology	8604	SLC25A12	OMIM:612949
HP:0031703	Abnormal ear morphology	4076	CAPRIN1	OMIM:620782
HP:0031703	Abnormal ear morphology	1288	COL4A6	OMIM:300914
HP:0031703	Abnormal ear morphology	6663	SOX10	OMIM:611584
HP:0031703	Abnormal ear morphology	54845	ESRP1	OMIM:618013
HP:0031703	Abnormal ear morphology	4762	NEUROG1	OMIM:620469
HP:0031703	Abnormal ear morphology	5298	PI4KB	OMIM:620281
HP:0031703	Abnormal ear morphology	4363	ABCC1	OMIM:618915
HP:0031703	Abnormal ear morphology	9984	THOC1	OMIM:620280
HP:0031703	Abnormal ear morphology	152137	CCDC50	OMIM:607453
HP:0031703	Abnormal ear morphology	1278	COL1A2	ORPHA:230851
HP:0031703	Abnormal ear morphology	326	AIRE	OMIM:240300
HP:0031703	Abnormal ear morphology	57003	CCDC47	OMIM:618268
HP:0031703	Abnormal ear morphology	473	RERE	OMIM:616975
HP:0031703	Abnormal ear morphology	2033	EP300	OMIM:180849
HP:0031703	Abnormal ear morphology	7528	YY1	OMIM:617557
HP:0031703	Abnormal ear morphology	2137	EXTL3	OMIM:617425
HP:0031703	Abnormal ear morphology	54187	NANS	OMIM:610442
HP:0031703	Abnormal ear morphology	57539	WDR35	OMIM:613610
HP:0031703	Abnormal ear morphology	8449	DHX16	OMIM:618733
HP:0031703	Abnormal ear morphology	55770	EXOC2	OMIM:619306
HP:0031703	Abnormal ear morphology	6650	CAPN15	OMIM:619318
HP:0031703	Abnormal ear morphology	9734	HDAC9	OMIM:620457
HP:0031703	Abnormal ear morphology	7428	VHL	ORPHA:892
HP:0031703	Abnormal ear morphology	595	CCND1	ORPHA:892
HP:0031703	Abnormal ear morphology	7703	PCGF2	OMIM:618371
HP:0031703	Abnormal ear morphology	6492	SIM1	ORPHA:171829
HP:0031703	Abnormal ear morphology	2103	ESRRB	OMIM:608565
HP:0031703	Abnormal ear morphology	5283	PIGH	OMIM:618010
HP:0031703	Abnormal ear morphology	84196	USP48	OMIM:620227
HP:0031703	Abnormal ear morphology	8913	CACNA1G	OMIM:618087
HP:0031703	Abnormal ear morphology	3149	HMGB3	OMIM:300915
HP:0031703	Abnormal ear morphology	4487	MSX1	ORPHA:199302
HP:0031703	Abnormal ear morphology	5818	NECTIN1	ORPHA:199302
HP:0031703	Abnormal ear morphology	3664	IRF6	ORPHA:199302
HP:0031703	Abnormal ear morphology	80232	WDR26	ORPHA:513456
HP:0031703	Abnormal ear morphology	10225	CD96	ORPHA:1308
HP:0031703	Abnormal ear morphology	9702	CEP57	OMIM:614114
HP:0031703	Abnormal ear morphology	5702	PSMC3	OMIM:619354
HP:0031703	Abnormal ear morphology	7317	UBA1	OMIM:301054
HP:0031703	Abnormal ear morphology	51780	KDM3B	OMIM:618846
HP:0031703	Abnormal ear morphology	3703	STT3A	OMIM:619714
HP:0031703	Abnormal ear morphology	1806	DPYD	ORPHA:293948
HP:0031703	Abnormal ear morphology	5457	POU4F1	ORPHA:314647
HP:0031703	Abnormal ear morphology	57591	MRTFA	OMIM:618847
HP:0031703	Abnormal ear morphology	6868	ADAM17	OMIM:614328
HP:0031703	Abnormal ear morphology	6868	ADAM17	ORPHA:294023
HP:0031703	Abnormal ear morphology	1956	EGFR	ORPHA:294023
HP:0031703	Abnormal ear morphology	3081	HGD	OMIM:203500
HP:0031704	Abnormal ear physiology	6390	SDHB	ORPHA:97286
HP:0031704	Abnormal ear physiology	6391	SDHC	ORPHA:97286
HP:0031704	Abnormal ear physiology	6392	SDHD	ORPHA:97286
HP:0031704	Abnormal ear physiology	5251	PHEX	ORPHA:89936
HP:0031704	Abnormal ear physiology	2911	GRM1	OMIM:617691
HP:0031704	Abnormal ear physiology	773	CACNA1A	OMIM:108500
HP:0031704	Abnormal ear physiology	773	CACNA1A	ORPHA:569
HP:0031704	Abnormal ear physiology	773	CACNA1A	ORPHA:97
HP:0031704	Abnormal ear physiology	117531	TMC1	OMIM:606705
HP:0031704	Abnormal ear physiology	56616	DIABLO	OMIM:614152
HP:0031704	Abnormal ear physiology	491	ATP2B2	OMIM:619804
HP:0031704	Abnormal ear physiology	4363	ABCC1	OMIM:618915
HP:0031704	Abnormal ear physiology	23516	SLC39A14	OMIM:144755
HP:0031704	Abnormal ear physiology	9984	THOC1	OMIM:620280
HP:0031704	Abnormal ear physiology	1690	COCH	OMIM:601369
HP:0031704	Abnormal ear physiology	9885	OSBPL2	OMIM:616340
HP:0031704	Abnormal ear physiology	407053	MIR96	OMIM:613074
HP:0031704	Abnormal ear physiology	9131	AIFM1	OMIM:300614
HP:0031704	Abnormal ear physiology	125336	LOXHD1	OMIM:613079
HP:0031704	Abnormal ear physiology	56172	ANKH	OMIM:123000
HP:0031704	Abnormal ear physiology	4668	NAGA	ORPHA:79280
HP:0031704	Abnormal ear physiology	3717	JAK2	ORPHA:729
HP:0031704	Abnormal ear physiology	2717	GLA	ORPHA:324
HP:0031704	Abnormal ear physiology	112476	PRRT2	ORPHA:569
HP:0031704	Abnormal ear physiology	6323	SCN1A	ORPHA:569
HP:0031704	Abnormal ear physiology	477	ATP1A2	ORPHA:569
HP:0031704	Abnormal ear physiology	1181	CLCN2	ORPHA:404
HP:0031704	Abnormal ear physiology	1584	CYP11B1	ORPHA:403
HP:0031704	Abnormal ear physiology	1585	CYP11B2	ORPHA:403
HP:0031704	Abnormal ear physiology	9132	KCNQ4	OMIM:600101
HP:0031704	Abnormal ear physiology	857	CAV1	OMIM:606721
HP:0031704	Abnormal ear physiology	776	CACNA1D	ORPHA:369929
HP:0031704	Abnormal ear physiology	355	FAS	ORPHA:3437
HP:0031704	Abnormal ear physiology	26191	PTPN22	ORPHA:3437
HP:0031704	Abnormal ear physiology	51004	COQ6	ORPHA:93921
HP:0031704	Abnormal ear physiology	8216	LZTR1	ORPHA:93921
HP:0031704	Abnormal ear physiology	80736	SLC44A4	OMIM:617606
HP:0031704	Abnormal ear physiology	5376	PMP22	ORPHA:90658
HP:0031704	Abnormal ear physiology	595	CCND1	OMIM:193300
HP:0031704	Abnormal ear physiology	7428	VHL	OMIM:193300
HP:0031704	Abnormal ear physiology	1834	DSPP	OMIM:605594
HP:0031704	Abnormal ear physiology	152137	CCDC50	OMIM:607453
HP:0031704	Abnormal ear physiology	3762	KCNJ5	ORPHA:251274
HP:0031704	Abnormal ear physiology	22953	P2RX2	OMIM:608224
HP:0031704	Abnormal ear physiology	1188	CLCNKB	ORPHA:358
HP:0031704	Abnormal ear physiology	6559	SLC12A3	ORPHA:358
HP:0031704	Abnormal ear physiology	9927	MFN2	OMIM:601152
HP:0031704	Abnormal ear physiology	5080	PAX6	ORPHA:893
HP:0031704	Abnormal ear physiology	5080	PAX6	ORPHA:1065
HP:0031704	Abnormal ear physiology	7490	WT1	ORPHA:893
HP:0031704	Abnormal ear physiology	627	BDNF	ORPHA:893
HP:0031704	Abnormal ear physiology	1185	CLCN6	OMIM:619173
HP:0031704	Abnormal ear physiology	54084	TSPEAR	OMIM:618180
HP:0031704	Abnormal ear physiology	9241	NOG	OMIM:186570
HP:0031704	Abnormal ear physiology	10491	CRTAP	OMIM:610682
HP:0031704	Abnormal ear physiology	79574	EPS8L3	OMIM:612841
HP:0031704	Abnormal ear physiology	3708	ITPR1	ORPHA:1065
HP:0031704	Abnormal ear physiology	4683	NBN	ORPHA:647
HP:0031704	Abnormal ear physiology	4621	MYH3	ORPHA:2990
HP:0031704	Abnormal ear physiology	1146	CHRNG	ORPHA:2990
HP:0031704	Abnormal ear physiology	4221	MEN1	ORPHA:97279
HP:0031704	Abnormal ear physiology	7528	YY1	ORPHA:97279
HP:0031704	Abnormal ear physiology	672	BRCA1	ORPHA:84
HP:0031704	Abnormal ear physiology	10459	MAD2L2	ORPHA:84
HP:0031704	Abnormal ear physiology	7516	XRCC2	ORPHA:84
HP:0031704	Abnormal ear physiology	29089	UBE2T	ORPHA:84
HP:0031704	Abnormal ear physiology	675	BRCA2	ORPHA:84
HP:0031704	Abnormal ear physiology	55120	FANCL	ORPHA:84
HP:0031704	Abnormal ear physiology	2177	FANCD2	ORPHA:84
HP:0031704	Abnormal ear physiology	2175	FANCA	ORPHA:84
HP:0031704	Abnormal ear physiology	2187	FANCB	ORPHA:84
HP:0031704	Abnormal ear physiology	2176	FANCC	ORPHA:84
HP:0031704	Abnormal ear physiology	2178	FANCE	ORPHA:84
HP:0031704	Abnormal ear physiology	2188	FANCF	ORPHA:84
HP:0031704	Abnormal ear physiology	2189	FANCG	ORPHA:84
HP:0031704	Abnormal ear physiology	5888	RAD51	ORPHA:84
HP:0031704	Abnormal ear physiology	5889	RAD51C	ORPHA:84
HP:0031704	Abnormal ear physiology	55159	RFWD3	ORPHA:84
HP:0031704	Abnormal ear physiology	83990	BRIP1	ORPHA:84
HP:0031704	Abnormal ear physiology	57697	FANCM	ORPHA:84
HP:0031704	Abnormal ear physiology	79728	PALB2	ORPHA:84
HP:0031704	Abnormal ear physiology	84464	SLX4	ORPHA:84
HP:0031704	Abnormal ear physiology	2072	ERCC4	ORPHA:84
HP:0031704	Abnormal ear physiology	55215	FANCI	ORPHA:84
HP:0031704	Abnormal ear physiology	6678	SPARC	OMIM:616507
HP:0031704	Abnormal ear physiology	2776	GNAQ	ORPHA:3205
HP:0031704	Abnormal ear physiology	3081	HGD	ORPHA:56
HP:0031704	Abnormal ear physiology	8517	IKBKG	ORPHA:464
HP:0031704	Abnormal ear physiology	3784	KCNQ1	OMIM:192500
HP:0031704	Abnormal ear physiology	2263	FGFR2	ORPHA:1555
HP:0031704	Abnormal ear physiology	5981	RFC1	OMIM:614575
HP:0031704	Abnormal ear physiology	860	RUNX2	ORPHA:1452
HP:0031704	Abnormal ear physiology	1301	COL11A1	ORPHA:2021
HP:0031704	Abnormal ear physiology	1302	COL11A2	ORPHA:2021
HP:0031704	Abnormal ear physiology	1906	EDN1	OMIM:612798
HP:0031704	Abnormal ear physiology	60681	FKBP10	OMIM:259450
HP:0031704	Abnormal ear physiology	26154	ABCA12	ORPHA:457
HP:0031704	Abnormal ear physiology	11128	POLR3A	ORPHA:3455
HP:0031704	Abnormal ear physiology	3106	HLA-B	ORPHA:397
HP:0031704	Abnormal ear physiology	3123	HLA-DRB1	ORPHA:397
HP:0031704	Abnormal ear physiology	8974	P4HA2	ORPHA:397
HP:0031704	Abnormal ear physiology	65217	PCDH15	OMIM:601067
HP:0031704	Abnormal ear physiology	64072	CDH23	OMIM:601067
HP:0031704	Abnormal ear physiology	26235	FBXL4	OMIM:615471
HP:0031704	Abnormal ear physiology	51569	UFM1	OMIM:617899
HP:0031704	Abnormal ear physiology	79188	TMEM43	OMIM:619832
HP:0031704	Abnormal ear physiology	4897	NRCAM	OMIM:619833
HP:0031704	Abnormal ear physiology	7068	THRB	OMIM:274300
HP:0031704	Abnormal ear physiology	5604	MAP2K1	ORPHA:389
HP:0031704	Abnormal ear physiology	5604	MAP2K1	OMIM:163950
HP:0031704	Abnormal ear physiology	4893	NRAS	ORPHA:389
HP:0031704	Abnormal ear physiology	673	BRAF	ORPHA:389
HP:0031704	Abnormal ear physiology	673	BRAF	ORPHA:54595
HP:0031704	Abnormal ear physiology	673	BRAF	OMIM:115150
HP:0031704	Abnormal ear physiology	673	BRAF	OMIM:163950
HP:0031704	Abnormal ear physiology	5631	PRPS1	ORPHA:99014
HP:0031704	Abnormal ear physiology	5631	PRPS1	OMIM:301835
HP:0031704	Abnormal ear physiology	5631	PRPS1	OMIM:311070
HP:0031704	Abnormal ear physiology	5631	PRPS1	OMIM:300661
HP:0031704	Abnormal ear physiology	6662	SOX9	ORPHA:140
HP:0031704	Abnormal ear physiology	6662	SOX9	OMIM:114290
HP:0031704	Abnormal ear physiology	1855	DVL1	OMIM:616331
HP:0031704	Abnormal ear physiology	1855	DVL1	ORPHA:3107
HP:0031704	Abnormal ear physiology	64412	GZF1	OMIM:617662
HP:0031704	Abnormal ear physiology	10528	NOP56	OMIM:614153
HP:0031704	Abnormal ear physiology	10528	NOP56	ORPHA:276198
HP:0031704	Abnormal ear physiology	56997	COQ8A	ORPHA:139485
HP:0031704	Abnormal ear physiology	27245	AHDC1	ORPHA:412069
HP:0031704	Abnormal ear physiology	5424	POLD1	OMIM:620836
HP:0031704	Abnormal ear physiology	9968	MED12	ORPHA:2728
HP:0031704	Abnormal ear physiology	9968	MED12	OMIM:300895
HP:0031704	Abnormal ear physiology	51112	TRAPPC12	OMIM:617669
HP:0031704	Abnormal ear physiology	55636	CHD7	ORPHA:138
HP:0031704	Abnormal ear physiology	9723	SEMA3E	ORPHA:138
HP:0031704	Abnormal ear physiology	55650	PIGV	OMIM:239300
HP:0031704	Abnormal ear physiology	55154	MSTO1	OMIM:617675
HP:0031704	Abnormal ear physiology	55154	MSTO1	ORPHA:502423
HP:0031704	Abnormal ear physiology	50484	RRM2B	OMIM:613077
HP:0031704	Abnormal ear physiology	50484	RRM2B	ORPHA:254892
HP:0031704	Abnormal ear physiology	50484	RRM2B	ORPHA:329336
HP:0031704	Abnormal ear physiology	50484	RRM2B	ORPHA:480
HP:0031704	Abnormal ear physiology	50484	RRM2B	OMIM:268315
HP:0031704	Abnormal ear physiology	113189	CHST14	ORPHA:2953
HP:0031704	Abnormal ear physiology	113189	CHST14	OMIM:601776
HP:0031704	Abnormal ear physiology	29940	DSE	ORPHA:2953
HP:0031704	Abnormal ear physiology	54880	BCOR	ORPHA:2712
HP:0031704	Abnormal ear physiology	54880	BCOR	ORPHA:568
HP:0031704	Abnormal ear physiology	54880	BCOR	OMIM:309800
HP:0031704	Abnormal ear physiology	2261	FGFR3	ORPHA:1860
HP:0031704	Abnormal ear physiology	2261	FGFR3	ORPHA:794
HP:0031704	Abnormal ear physiology	2261	FGFR3	ORPHA:15
HP:0031704	Abnormal ear physiology	2261	FGFR3	ORPHA:93274
HP:0031704	Abnormal ear physiology	2261	FGFR3	OMIM:620192
HP:0031704	Abnormal ear physiology	2261	FGFR3	OMIM:616482
HP:0031704	Abnormal ear physiology	2261	FGFR3	ORPHA:85164
HP:0031704	Abnormal ear physiology	2261	FGFR3	OMIM:602849
HP:0031704	Abnormal ear physiology	2261	FGFR3	OMIM:610474
HP:0031704	Abnormal ear physiology	2261	FGFR3	ORPHA:35099
HP:0031704	Abnormal ear physiology	84100	ARL6	OMIM:209900
HP:0031704	Abnormal ear physiology	84100	ARL6	ORPHA:110
HP:0031704	Abnormal ear physiology	79140	CCDC28B	OMIM:209900
HP:0031704	Abnormal ear physiology	582	BBS1	OMIM:209900
HP:0031704	Abnormal ear physiology	582	BBS1	ORPHA:110
HP:0031704	Abnormal ear physiology	2697	GJA1	ORPHA:2710
HP:0031704	Abnormal ear physiology	2697	GJA1	ORPHA:317
HP:0031704	Abnormal ear physiology	10087	CERT1	OMIM:616351
HP:0031704	Abnormal ear physiology	11107	PRDM5	OMIM:614170
HP:0031704	Abnormal ear physiology	4330	MN1	OMIM:618774
HP:0031704	Abnormal ear physiology	9997	SCO2	OMIM:608908
HP:0031704	Abnormal ear physiology	9997	SCO2	OMIM:604377
HP:0031704	Abnormal ear physiology	81848	SPRY4	OMIM:615266
HP:0031704	Abnormal ear physiology	57231	SNX14	OMIM:616354
HP:0031704	Abnormal ear physiology	1848	DUSP6	OMIM:615269
HP:0031704	Abnormal ear physiology	8550	MAPKAPK5	OMIM:619869
HP:0031704	Abnormal ear physiology	8036	SHOC2	ORPHA:2701
HP:0031704	Abnormal ear physiology	5500	PPP1CB	ORPHA:2701
HP:0031704	Abnormal ear physiology	54756	IL17RD	OMIM:615267
HP:0031704	Abnormal ear physiology	26834	RNU4-2	OMIM:620851
HP:0031704	Abnormal ear physiology	1280	COL2A1	ORPHA:1856
HP:0031704	Abnormal ear physiology	1280	COL2A1	ORPHA:93296
HP:0031704	Abnormal ear physiology	1280	COL2A1	ORPHA:485
HP:0031704	Abnormal ear physiology	1280	COL2A1	ORPHA:94068
HP:0031704	Abnormal ear physiology	1280	COL2A1	OMIM:183900
HP:0031704	Abnormal ear physiology	1280	COL2A1	OMIM:609508
HP:0031704	Abnormal ear physiology	1280	COL2A1	ORPHA:93346
HP:0031704	Abnormal ear physiology	2316	FLNA	ORPHA:90650
HP:0031704	Abnormal ear physiology	2316	FLNA	ORPHA:90652
HP:0031704	Abnormal ear physiology	2316	FLNA	ORPHA:1826
HP:0031704	Abnormal ear physiology	2316	FLNA	OMIM:305620
HP:0031704	Abnormal ear physiology	2316	FLNA	ORPHA:2484
HP:0031704	Abnormal ear physiology	1499	CTNNB1	ORPHA:54595
HP:0031704	Abnormal ear physiology	1499	CTNNB1	ORPHA:404473
HP:0031704	Abnormal ear physiology	1499	CTNNB1	ORPHA:891
HP:0031704	Abnormal ear physiology	4359	MPZ	ORPHA:101082
HP:0031704	Abnormal ear physiology	92482	BBIP1	ORPHA:110
HP:0031704	Abnormal ear physiology	80184	CEP290	ORPHA:110
HP:0031704	Abnormal ear physiology	80184	CEP290	ORPHA:65
HP:0031704	Abnormal ear physiology	11020	IFT27	ORPHA:110
HP:0031704	Abnormal ear physiology	11020	IFT27	OMIM:615996
HP:0031704	Abnormal ear physiology	49855	SCAPER	ORPHA:110
HP:0031704	Abnormal ear physiology	4867	NPHP1	ORPHA:110
HP:0031704	Abnormal ear physiology	51057	WDPCP	ORPHA:110
HP:0031704	Abnormal ear physiology	132320	SCLT1	ORPHA:110
HP:0031704	Abnormal ear physiology	27241	BBS9	ORPHA:110
HP:0031704	Abnormal ear physiology	84984	CEP19	ORPHA:110
HP:0031704	Abnormal ear physiology	22954	TRIM32	ORPHA:110
HP:0031704	Abnormal ear physiology	54903	MKS1	ORPHA:110
HP:0031704	Abnormal ear physiology	79738	BBS10	ORPHA:110
HP:0031704	Abnormal ear physiology	123016	TTC8	ORPHA:110
HP:0031704	Abnormal ear physiology	26160	IFT172	ORPHA:110
HP:0031704	Abnormal ear physiology	583	BBS2	ORPHA:110
HP:0031704	Abnormal ear physiology	585	BBS4	ORPHA:110
HP:0031704	Abnormal ear physiology	8195	MKKS	ORPHA:110
HP:0031704	Abnormal ear physiology	54585	LZTFL1	ORPHA:110
HP:0031704	Abnormal ear physiology	55212	BBS7	ORPHA:110
HP:0031704	Abnormal ear physiology	166379	BBS12	ORPHA:110
HP:0031704	Abnormal ear physiology	10806	SDCCAG8	ORPHA:110
HP:0031704	Abnormal ear physiology	10806	SDCCAG8	OMIM:615993
HP:0031704	Abnormal ear physiology	157657	CFAP418	ORPHA:110
HP:0031704	Abnormal ear physiology	129880	BBS5	ORPHA:110
HP:0031704	Abnormal ear physiology	80173	IFT74	ORPHA:110
HP:0031704	Abnormal ear physiology	5476	CTSA	ORPHA:351
HP:0031704	Abnormal ear physiology	5476	CTSA	OMIM:256540
HP:0031704	Abnormal ear physiology	23767	FLRT3	OMIM:615271
HP:0031704	Abnormal ear physiology	51633	OTUD6B	OMIM:617452
HP:0031704	Abnormal ear physiology	51633	OTUD6B	ORPHA:505237
HP:0031704	Abnormal ear physiology	57167	SALL4	OMIM:147750
HP:0031704	Abnormal ear physiology	57167	SALL4	ORPHA:2307
HP:0031704	Abnormal ear physiology	57167	SALL4	ORPHA:233
HP:0031704	Abnormal ear physiology	27125	AFF4	OMIM:616368
HP:0031704	Abnormal ear physiology	27125	AFF4	ORPHA:444077
HP:0031704	Abnormal ear physiology	116115	ZNF526	OMIM:619877
HP:0031704	Abnormal ear physiology	3098	HK1	OMIM:618547
HP:0031704	Abnormal ear physiology	2705	GJB1	ORPHA:101075
HP:0031704	Abnormal ear physiology	2517	FUCA1	ORPHA:349
HP:0031704	Abnormal ear physiology	2517	FUCA1	OMIM:230000
HP:0031704	Abnormal ear physiology	2138	EYA1	ORPHA:107
HP:0031704	Abnormal ear physiology	2138	EYA1	ORPHA:52429
HP:0031704	Abnormal ear physiology	147912	SIX5	ORPHA:107
HP:0031704	Abnormal ear physiology	147912	SIX5	OMIM:610896
HP:0031704	Abnormal ear physiology	6495	SIX1	ORPHA:107
HP:0031704	Abnormal ear physiology	6495	SIX1	ORPHA:52429
HP:0031704	Abnormal ear physiology	79718	TBL1XR1	OMIM:602342
HP:0031704	Abnormal ear physiology	79718	TBL1XR1	ORPHA:487825
HP:0031704	Abnormal ear physiology	6804	STX1A	ORPHA:586
HP:0031704	Abnormal ear physiology	2947	GSTM3	ORPHA:586
HP:0031704	Abnormal ear physiology	7040	TGFB1	ORPHA:586
HP:0031704	Abnormal ear physiology	7040	TGFB1	OMIM:131300
HP:0031704	Abnormal ear physiology	7040	TGFB1	ORPHA:1328
HP:0031704	Abnormal ear physiology	2729	GCLC	ORPHA:586
HP:0031704	Abnormal ear physiology	1084	CEACAM3	ORPHA:586
HP:0031704	Abnormal ear physiology	6556	SLC11A1	ORPHA:586
HP:0031704	Abnormal ear physiology	51164	DCTN4	ORPHA:586
HP:0031704	Abnormal ear physiology	3783	KCNN4	ORPHA:586
HP:0031704	Abnormal ear physiology	4282	MIF	ORPHA:586
HP:0031704	Abnormal ear physiology	1909	EDNRA	ORPHA:586
HP:0031704	Abnormal ear physiology	6550	SLC9A3	ORPHA:586
HP:0031704	Abnormal ear physiology	3162	HMOX1	ORPHA:586
HP:0031704	Abnormal ear physiology	115019	SLC26A9	ORPHA:586
HP:0031704	Abnormal ear physiology	3077	HFE	ORPHA:586
HP:0031704	Abnormal ear physiology	11254	SLC6A14	ORPHA:586
HP:0031704	Abnormal ear physiology	5265	SERPINA1	ORPHA:586
HP:0031704	Abnormal ear physiology	1080	CFTR	ORPHA:586
HP:0031704	Abnormal ear physiology	22802	CLCA4	ORPHA:586
HP:0031704	Abnormal ear physiology	4680	CEACAM6	ORPHA:586
HP:0031704	Abnormal ear physiology	146227	BEAN1	ORPHA:217012
HP:0031704	Abnormal ear physiology	56652	TWNK	OMIM:271245
HP:0031704	Abnormal ear physiology	56652	TWNK	ORPHA:254892
HP:0031704	Abnormal ear physiology	56652	TWNK	ORPHA:1186
HP:0031704	Abnormal ear physiology	1749	DLX5	OMIM:183600
HP:0031704	Abnormal ear physiology	90	ACVR1	ORPHA:337
HP:0031704	Abnormal ear physiology	63895	PIEZO2	ORPHA:376
HP:0031704	Abnormal ear physiology	6654	SOS1	OMIM:135300
HP:0031704	Abnormal ear physiology	5354	PLP1	OMIM:312080
HP:0031704	Abnormal ear physiology	3423	IDS	OMIM:309900
HP:0031704	Abnormal ear physiology	25836	NIPBL	OMIM:122470
HP:0031704	Abnormal ear physiology	54532	USP53	OMIM:619658
HP:0031704	Abnormal ear physiology	6885	MAP3K7	ORPHA:1826
HP:0031704	Abnormal ear physiology	51322	WAC	ORPHA:466950
HP:0031704	Abnormal ear physiology	51322	WAC	ORPHA:284169
HP:0031704	Abnormal ear physiology	51322	WAC	OMIM:616708
HP:0031704	Abnormal ear physiology	84295	PHF6	ORPHA:127
HP:0031704	Abnormal ear physiology	4615	MYD88	ORPHA:33226
HP:0031704	Abnormal ear physiology	404672	GTF2H5	OMIM:616395
HP:0031704	Abnormal ear physiology	1387	CREBBP	OMIM:618332
HP:0031704	Abnormal ear physiology	1387	CREBBP	OMIM:180849
HP:0031704	Abnormal ear physiology	1387	CREBBP	ORPHA:592574
HP:0031704	Abnormal ear physiology	2033	EP300	OMIM:618333
HP:0031704	Abnormal ear physiology	2033	EP300	OMIM:180849
HP:0031704	Abnormal ear physiology	55151	TMEM38B	OMIM:615066
HP:0031704	Abnormal ear physiology	5081	PAX7	OMIM:618578
HP:0031704	Abnormal ear physiology	4126	MANBA	ORPHA:118
HP:0031704	Abnormal ear physiology	4126	MANBA	OMIM:248510
HP:0031704	Abnormal ear physiology	7291	TWIST1	ORPHA:794
HP:0031704	Abnormal ear physiology	7291	TWIST1	OMIM:101400
HP:0031704	Abnormal ear physiology	7291	TWIST1	ORPHA:35099
HP:0031704	Abnormal ear physiology	7291	TWIST1	OMIM:617746
HP:0031704	Abnormal ear physiology	291	SLC25A4	ORPHA:254892
HP:0031704	Abnormal ear physiology	5428	POLG	ORPHA:254892
HP:0031704	Abnormal ear physiology	5428	POLG	ORPHA:254886
HP:0031704	Abnormal ear physiology	5428	POLG	OMIM:613662
HP:0031704	Abnormal ear physiology	11232	POLG2	ORPHA:254892
HP:0031704	Abnormal ear physiology	22827	PUF60	ORPHA:508498
HP:0031704	Abnormal ear physiology	9488	PIGB	OMIM:618580
HP:0031704	Abnormal ear physiology	6448	SGSH	OMIM:252900
HP:0031704	Abnormal ear physiology	695	BTK	OMIM:300755
HP:0031704	Abnormal ear physiology	695	BTK	OMIM:307200
HP:0031704	Abnormal ear physiology	6134	RPL10	OMIM:300998
HP:0031704	Abnormal ear physiology	1859	DYRK1A	ORPHA:268261
HP:0031704	Abnormal ear physiology	8573	CASK	OMIM:300749
HP:0031704	Abnormal ear physiology	27148	STK36	OMIM:619436
HP:0031704	Abnormal ear physiology	27148	STK36	ORPHA:244
HP:0031704	Abnormal ear physiology	55746	NUP133	OMIM:618349
HP:0031704	Abnormal ear physiology	79813	EHMT1	ORPHA:96147
HP:0031704	Abnormal ear physiology	79813	EHMT1	OMIM:610253
HP:0031704	Abnormal ear physiology	79813	EHMT1	ORPHA:261652
HP:0031704	Abnormal ear physiology	5308	PITX2	ORPHA:782
HP:0031704	Abnormal ear physiology	2296	FOXC1	ORPHA:782
HP:0031704	Abnormal ear physiology	55315	SLC29A3	OMIM:602782
HP:0031704	Abnormal ear physiology	55315	SLC29A3	ORPHA:168569
HP:0031704	Abnormal ear physiology	55315	SLC29A3	ORPHA:1782
HP:0031704	Abnormal ear physiology	10397	NDRG1	OMIM:601455
HP:0031704	Abnormal ear physiology	7084	TK2	ORPHA:254886
HP:0031704	Abnormal ear physiology	7084	TK2	OMIM:609560
HP:0031704	Abnormal ear physiology	3767	KCNJ11	ORPHA:99885
HP:0031704	Abnormal ear physiology	3767	KCNJ11	ORPHA:99886
HP:0031704	Abnormal ear physiology	6774	STAT3	ORPHA:99885
HP:0031704	Abnormal ear physiology	2645	GCK	ORPHA:99885
HP:0031704	Abnormal ear physiology	3651	PDX1	ORPHA:99885
HP:0031704	Abnormal ear physiology	6833	ABCC8	ORPHA:99885
HP:0031704	Abnormal ear physiology	6833	ABCC8	ORPHA:99886
HP:0031704	Abnormal ear physiology	3630	INS	ORPHA:99885
HP:0031704	Abnormal ear physiology	346171	ZFP57	ORPHA:99886
HP:0031704	Abnormal ear physiology	57061	HYMAI	ORPHA:99886
HP:0031704	Abnormal ear physiology	5325	PLAGL1	ORPHA:99886
HP:0031704	Abnormal ear physiology	801	CALM1	ORPHA:101016
HP:0031704	Abnormal ear physiology	3753	KCNE1	ORPHA:101016
HP:0031704	Abnormal ear physiology	805	CALM2	ORPHA:101016
HP:0031704	Abnormal ear physiology	6910	TBX5	ORPHA:101016
HP:0031704	Abnormal ear physiology	6336	SCN10A	ORPHA:101016
HP:0031704	Abnormal ear physiology	3757	KCNH2	ORPHA:101016
HP:0031704	Abnormal ear physiology	9992	KCNE2	ORPHA:101016
HP:0031704	Abnormal ear physiology	10142	AKAP9	ORPHA:101016
HP:0031704	Abnormal ear physiology	9722	NOS1AP	ORPHA:101016
HP:0031704	Abnormal ear physiology	775	CACNA1C	ORPHA:101016
HP:0031704	Abnormal ear physiology	10345	TRDN	ORPHA:101016
HP:0031704	Abnormal ear physiology	6331	SCN5A	ORPHA:101016
HP:0031704	Abnormal ear physiology	6330	SCN4B	ORPHA:101016
HP:0031704	Abnormal ear physiology	808	CALM3	ORPHA:101016
HP:0031704	Abnormal ear physiology	6640	SNTA1	ORPHA:101016
HP:0031704	Abnormal ear physiology	859	CAV3	ORPHA:101016
HP:0031704	Abnormal ear physiology	287	ANK2	ORPHA:101016
HP:0031704	Abnormal ear physiology	473	RERE	ORPHA:494344
HP:0031704	Abnormal ear physiology	5980	REV3L	ORPHA:570
HP:0031704	Abnormal ear physiology	23129	PLXND1	ORPHA:570
HP:0031704	Abnormal ear physiology	4784	NFIX	OMIM:602535
HP:0031704	Abnormal ear physiology	51434	ANAPC7	OMIM:619699
HP:0031704	Abnormal ear physiology	4998	ORC1	OMIM:224690
HP:0031704	Abnormal ear physiology	4998	ORC1	ORPHA:2554
HP:0031704	Abnormal ear physiology	4052	LTBP1	OMIM:619451
HP:0031704	Abnormal ear physiology	84068	SLC10A7	OMIM:618363
HP:0031704	Abnormal ear physiology	3756	KCNH1	OMIM:135500
HP:0031704	Abnormal ear physiology	50945	TBX22	OMIM:302905
HP:0031704	Abnormal ear physiology	201163	FLCN	OMIM:610883
HP:0031704	Abnormal ear physiology	1312	COMT	ORPHA:567
HP:0031704	Abnormal ear physiology	221037	JMJD1C	ORPHA:567
HP:0031704	Abnormal ear physiology	2812	GP1BB	ORPHA:567
HP:0031704	Abnormal ear physiology	6239	RREB1	ORPHA:567
HP:0031704	Abnormal ear physiology	6899	TBX1	ORPHA:567
HP:0031704	Abnormal ear physiology	6899	TBX1	ORPHA:1727
HP:0031704	Abnormal ear physiology	7290	HIRA	ORPHA:567
HP:0031704	Abnormal ear physiology	9632	SEC24C	ORPHA:567
HP:0031704	Abnormal ear physiology	7353	UFD1	ORPHA:567
HP:0031704	Abnormal ear physiology	421	ARVCF	ORPHA:567
HP:0031704	Abnormal ear physiology	8260	NAA10	ORPHA:568
HP:0031704	Abnormal ear physiology	8260	NAA10	OMIM:309800
HP:0031704	Abnormal ear physiology	2778	GNAS	ORPHA:562
HP:0031704	Abnormal ear physiology	2778	GNAS	OMIM:174800
HP:0031704	Abnormal ear physiology	27316	RBMX	OMIM:309555
HP:0031704	Abnormal ear physiology	9935	MAFB	OMIM:617041
HP:0031704	Abnormal ear physiology	9935	MAFB	ORPHA:233
HP:0031704	Abnormal ear physiology	4613	MYCN	OMIM:164280
HP:0031704	Abnormal ear physiology	2065	ERBB3	OMIM:243180
HP:0031704	Abnormal ear physiology	1277	COL1A1	OMIM:166220
HP:0031704	Abnormal ear physiology	1277	COL1A1	OMIM:166200
HP:0031704	Abnormal ear physiology	1277	COL1A1	OMIM:259420
HP:0031704	Abnormal ear physiology	1278	COL1A2	OMIM:166220
HP:0031704	Abnormal ear physiology	1278	COL1A2	OMIM:259420
HP:0031704	Abnormal ear physiology	9734	HDAC9	OMIM:620457
HP:0031704	Abnormal ear physiology	9401	RECQL4	OMIM:266280
HP:0031704	Abnormal ear physiology	2707	GJB3	ORPHA:317
HP:0031704	Abnormal ear physiology	2531	KDSR	ORPHA:317
HP:0031704	Abnormal ear physiology	127534	GJB4	ORPHA:317
HP:0031704	Abnormal ear physiology	1974	EIF4A2	OMIM:620455
HP:0031704	Abnormal ear physiology	3028	HSD17B10	ORPHA:391428
HP:0031704	Abnormal ear physiology	134218	DNAJC21	OMIM:617052
HP:0031704	Abnormal ear physiology	134218	DNAJC21	ORPHA:811
HP:0031704	Abnormal ear physiology	64840	PORCN	ORPHA:2092
HP:0031704	Abnormal ear physiology	94005	PIGS	OMIM:618143
HP:0031704	Abnormal ear physiology	6711	SPTBN1	OMIM:619475
HP:0031704	Abnormal ear physiology	1286	COL4A4	OMIM:203780
HP:0031704	Abnormal ear physiology	10413	YAP1	OMIM:120433
HP:0031704	Abnormal ear physiology	5184	PEPD	ORPHA:742
HP:0031704	Abnormal ear physiology	25839	COG4	OMIM:618150
HP:0031704	Abnormal ear physiology	51360	MBTPS2	OMIM:308205
HP:0031704	Abnormal ear physiology	51360	MBTPS2	ORPHA:85284
HP:0031704	Abnormal ear physiology	51360	MBTPS2	OMIM:301014
HP:0031704	Abnormal ear physiology	6872	TAF1	OMIM:300966
HP:0031704	Abnormal ear physiology	6872	TAF1	ORPHA:480907
HP:0031704	Abnormal ear physiology	8567	MADD	OMIM:619004
HP:0031704	Abnormal ear physiology	374879	ZNF699	OMIM:619488
HP:0031704	Abnormal ear physiology	8239	USP9X	OMIM:300968
HP:0031704	Abnormal ear physiology	8239	USP9X	ORPHA:480880
HP:0031704	Abnormal ear physiology	8318	CDC45	OMIM:617063
HP:0031704	Abnormal ear physiology	8318	CDC45	ORPHA:2554
HP:0031704	Abnormal ear physiology	23112	TNRC6B	OMIM:619243
HP:0031704	Abnormal ear physiology	1654	DDX3X	OMIM:300958
HP:0031704	Abnormal ear physiology	1654	DDX3X	ORPHA:457260
HP:0031704	Abnormal ear physiology	1654	DDX3X	ORPHA:3338
HP:0031704	Abnormal ear physiology	6663	SOX10	OMIM:609136
HP:0031704	Abnormal ear physiology	6663	SOX10	ORPHA:897
HP:0031704	Abnormal ear physiology	6663	SOX10	ORPHA:895
HP:0031704	Abnormal ear physiology	2799	GNS	OMIM:252940
HP:0031704	Abnormal ear physiology	60	ACTB	OMIM:620475
HP:0031704	Abnormal ear physiology	50964	SOST	OMIM:122860
HP:0031704	Abnormal ear physiology	50964	SOST	OMIM:269500
HP:0031704	Abnormal ear physiology	55670	PEX26	ORPHA:772
HP:0031704	Abnormal ear physiology	5824	PEX19	ORPHA:772
HP:0031704	Abnormal ear physiology	5828	PEX2	ORPHA:772
HP:0031704	Abnormal ear physiology	5828	PEX2	OMIM:614866
HP:0031704	Abnormal ear physiology	8504	PEX3	ORPHA:772
HP:0031704	Abnormal ear physiology	9409	PEX16	ORPHA:772
HP:0031704	Abnormal ear physiology	5190	PEX6	ORPHA:772
HP:0031704	Abnormal ear physiology	5190	PEX6	ORPHA:95433
HP:0031704	Abnormal ear physiology	5190	PEX6	ORPHA:3220
HP:0031704	Abnormal ear physiology	8799	PEX11B	ORPHA:772
HP:0031704	Abnormal ear physiology	5830	PEX5	ORPHA:772
HP:0031704	Abnormal ear physiology	5189	PEX1	ORPHA:772
HP:0031704	Abnormal ear physiology	5189	PEX1	ORPHA:3220
HP:0031704	Abnormal ear physiology	5189	PEX1	OMIM:214100
HP:0031704	Abnormal ear physiology	5193	PEX12	ORPHA:772
HP:0031704	Abnormal ear physiology	5194	PEX13	ORPHA:772
HP:0031704	Abnormal ear physiology	5194	PEX13	OMIM:614885
HP:0031704	Abnormal ear physiology	5195	PEX14	ORPHA:772
HP:0031704	Abnormal ear physiology	5192	PEX10	ORPHA:772
HP:0031704	Abnormal ear physiology	10084	PQBP1	OMIM:309500
HP:0031704	Abnormal ear physiology	4256	MGP	OMIM:245150
HP:0031704	Abnormal ear physiology	4256	MGP	ORPHA:85202
HP:0031704	Abnormal ear physiology	5745	PTH1R	OMIM:156400
HP:0031704	Abnormal ear physiology	10273	STUB1	ORPHA:412057
HP:0031704	Abnormal ear physiology	138050	HGSNAT	OMIM:252930
HP:0031704	Abnormal ear physiology	617	BCS1L	ORPHA:53693
HP:0031704	Abnormal ear physiology	617	BCS1L	OMIM:124000
HP:0031704	Abnormal ear physiology	253827	MSRB3	OMIM:613718
HP:0031704	Abnormal ear physiology	116150	NUS1	OMIM:617082
HP:0031704	Abnormal ear physiology	55181	SMG8	OMIM:619268
HP:0031704	Abnormal ear physiology	84168	ANTXR1	ORPHA:2067
HP:0031704	Abnormal ear physiology	27445	PCLO	OMIM:608027
HP:0031704	Abnormal ear physiology	6342	SCP2	OMIM:613724
HP:0031704	Abnormal ear physiology	4669	NAGLU	OMIM:252920
HP:0031704	Abnormal ear physiology	9898	UBAP2L	OMIM:620494
HP:0031704	Abnormal ear physiology	283450	HECTD4	OMIM:620250
HP:0031704	Abnormal ear physiology	8085	KMT2D	OMIM:147920
HP:0031704	Abnormal ear physiology	7403	KDM6A	OMIM:147920
HP:0031704	Abnormal ear physiology	7403	KDM6A	OMIM:300867
HP:0031704	Abnormal ear physiology	6309	SC5D	ORPHA:46059
HP:0031704	Abnormal ear physiology	2070	EYA4	ORPHA:217622
HP:0031704	Abnormal ear physiology	128674	PROKR2	OMIM:244200
HP:0031704	Abnormal ear physiology	246243	RNASEH1	ORPHA:329336
HP:0031704	Abnormal ear physiology	10312	TCIRG1	OMIM:259700
HP:0031704	Abnormal ear physiology	10312	TCIRG1	ORPHA:667
HP:0031704	Abnormal ear physiology	10312	TCIRG1	ORPHA:1782
HP:0031704	Abnormal ear physiology	652	BMP4	ORPHA:828
HP:0031704	Abnormal ear physiology	652	BMP4	OMIM:607932
HP:0031704	Abnormal ear physiology	84282	RNF135	ORPHA:137634
HP:0031704	Abnormal ear physiology	324	APC	ORPHA:99818
HP:0031704	Abnormal ear physiology	324	APC	ORPHA:3258
HP:0031704	Abnormal ear physiology	10466	COG5	OMIM:613612
HP:0031704	Abnormal ear physiology	10667	FARS2	OMIM:614946
HP:0031704	Abnormal ear physiology	64324	NSD1	ORPHA:821
HP:0031704	Abnormal ear physiology	10297	APC2	ORPHA:821
HP:0031704	Abnormal ear physiology	4552	MTRR	ORPHA:2169
HP:0031704	Abnormal ear physiology	29072	SETD2	OMIM:620157
HP:0031704	Abnormal ear physiology	4884	NPTX1	OMIM:620158
HP:0031704	Abnormal ear physiology	4038	LRP4	ORPHA:3258
HP:0031704	Abnormal ear physiology	4038	LRP4	OMIM:614305
HP:0031704	Abnormal ear physiology	79631	EFL1	ORPHA:811
HP:0031704	Abnormal ear physiology	51119	SBDS	ORPHA:811
HP:0031704	Abnormal ear physiology	6197	RPS6KA3	OMIM:303600
HP:0031704	Abnormal ear physiology	23347	SMCHD1	OMIM:158901
HP:0031704	Abnormal ear physiology	50814	NSDHL	OMIM:308050
HP:0031704	Abnormal ear physiology	23522	KAT6B	OMIM:606170
HP:0031704	Abnormal ear physiology	23522	KAT6B	ORPHA:85201
HP:0031704	Abnormal ear physiology	23522	KAT6B	OMIM:603736
HP:0031704	Abnormal ear physiology	92579	G6PC3	OMIM:612541
HP:0031704	Abnormal ear physiology	55157	DARS2	ORPHA:137898
HP:0031704	Abnormal ear physiology	93627	TBCK	OMIM:616900
HP:0031704	Abnormal ear physiology	2260	FGFR1	ORPHA:93258
HP:0031704	Abnormal ear physiology	10367	MICU1	ORPHA:401768
HP:0031704	Abnormal ear physiology	6687	SPG7	OMIM:607259
HP:0031704	Abnormal ear physiology	215	ABCD1	OMIM:300100
HP:0031704	Abnormal ear physiology	215	ABCD1	ORPHA:139396
HP:0031704	Abnormal ear physiology	9896	FIG4	ORPHA:3472
HP:0031704	Abnormal ear physiology	9896	FIG4	ORPHA:208441
HP:0031704	Abnormal ear physiology	55697	VAC14	ORPHA:3472
HP:0031704	Abnormal ear physiology	9445	ITM2B	OMIM:117300
HP:0031704	Abnormal ear physiology	9184	BUB3	ORPHA:1052
HP:0031704	Abnormal ear physiology	699	BUB1	ORPHA:1052
HP:0031704	Abnormal ear physiology	9702	CEP57	ORPHA:1052
HP:0031704	Abnormal ear physiology	9702	CEP57	OMIM:614114
HP:0031704	Abnormal ear physiology	9319	TRIP13	ORPHA:1052
HP:0031704	Abnormal ear physiology	701	BUB1B	ORPHA:1052
HP:0031704	Abnormal ear physiology	5332	PLCB4	ORPHA:137888
HP:0031704	Abnormal ear physiology	5332	PLCB4	OMIM:614669
HP:0031704	Abnormal ear physiology	2773	GNAI3	ORPHA:137888
HP:0031704	Abnormal ear physiology	25942	SIN3A	OMIM:613406
HP:0031704	Abnormal ear physiology	25942	SIN3A	ORPHA:500166
HP:0031704	Abnormal ear physiology	25942	SIN3A	ORPHA:94065
HP:0031704	Abnormal ear physiology	3425	IDUA	OMIM:607014
HP:0031704	Abnormal ear physiology	3425	IDUA	ORPHA:93473
HP:0031704	Abnormal ear physiology	9487	PIGL	ORPHA:3474
HP:0031704	Abnormal ear physiology	113278	SLC52A3	OMIM:211530
HP:0031704	Abnormal ear physiology	2395	FXN	ORPHA:95
HP:0031704	Abnormal ear physiology	3475	IFRD1	ORPHA:98771
HP:0031704	Abnormal ear physiology	3735	KARS1	OMIM:619196
HP:0031704	Abnormal ear physiology	1798	DPAGT1	ORPHA:86309
HP:0031704	Abnormal ear physiology	3769	KCNJ13	ORPHA:65
HP:0031704	Abnormal ear physiology	343035	RD3	ORPHA:65
HP:0031704	Abnormal ear physiology	145226	RDH12	ORPHA:65
HP:0031704	Abnormal ear physiology	1406	CRX	ORPHA:65
HP:0031704	Abnormal ear physiology	64802	NMNAT1	ORPHA:65
HP:0031704	Abnormal ear physiology	57096	RPGRIP1	ORPHA:65
HP:0031704	Abnormal ear physiology	10383	TUBB4B	ORPHA:65
HP:0031704	Abnormal ear physiology	9742	IFT140	ORPHA:65
HP:0031704	Abnormal ear physiology	85015	USP45	ORPHA:65
HP:0031704	Abnormal ear physiology	6121	RPE65	ORPHA:65
HP:0031704	Abnormal ear physiology	23418	CRB1	ORPHA:65
HP:0031704	Abnormal ear physiology	5130	PCYT1A	ORPHA:65
HP:0031704	Abnormal ear physiology	9657	IQCB1	ORPHA:65
HP:0031704	Abnormal ear physiology	392255	GDF6	ORPHA:65
HP:0031704	Abnormal ear physiology	392255	GDF6	ORPHA:2345
HP:0031704	Abnormal ear physiology	392255	GDF6	OMIM:118100
HP:0031704	Abnormal ear physiology	23746	AIPL1	ORPHA:65
HP:0031704	Abnormal ear physiology	3000	GUCY2D	ORPHA:65
HP:0031704	Abnormal ear physiology	9227	LRAT	ORPHA:65
HP:0031704	Abnormal ear physiology	55812	SPATA7	ORPHA:65
HP:0031704	Abnormal ear physiology	7287	TULP1	ORPHA:65
HP:0031704	Abnormal ear physiology	167691	LCA5	ORPHA:65
HP:0031704	Abnormal ear physiology	3614	IMPDH1	ORPHA:65
HP:0031704	Abnormal ear physiology	7025	NR2F1	ORPHA:401777
HP:0031704	Abnormal ear physiology	114548	NLRP3	OMIM:191900
HP:0031704	Abnormal ear physiology	114548	NLRP3	ORPHA:1451
HP:0031704	Abnormal ear physiology	114548	NLRP3	OMIM:120100
HP:0031704	Abnormal ear physiology	114548	NLRP3	OMIM:607115
HP:0031704	Abnormal ear physiology	6135	RPL11	OMIM:612562
HP:0031704	Abnormal ear physiology	3035	HARS1	OMIM:614504
HP:0031704	Abnormal ear physiology	84720	PIGO	OMIM:614749
HP:0031704	Abnormal ear physiology	3748	KCNC3	ORPHA:98768
HP:0031704	Abnormal ear physiology	3748	KCNC3	OMIM:605259
HP:0031704	Abnormal ear physiology	10907	TXNL4A	OMIM:608572
HP:0031704	Abnormal ear physiology	2255	FGF10	OMIM:620193
HP:0031704	Abnormal ear physiology	4036	LRP2	OMIM:222448
HP:0031704	Abnormal ear physiology	79228	THOC6	ORPHA:363444
HP:0031704	Abnormal ear physiology	2934	GSN	ORPHA:85448
HP:0031704	Abnormal ear physiology	8481	OFD1	OMIM:311200
HP:0031704	Abnormal ear physiology	8481	OFD1	ORPHA:2750
HP:0031704	Abnormal ear physiology	8481	OFD1	ORPHA:244
HP:0031704	Abnormal ear physiology	415	ARSL	OMIM:302950
HP:0031704	Abnormal ear physiology	64116	SLC39A8	ORPHA:468699
HP:0031704	Abnormal ear physiology	64116	SLC39A8	OMIM:616721
HP:0031704	Abnormal ear physiology	10682	EBP	OMIM:302960
HP:0031704	Abnormal ear physiology	1186	CLCN7	ORPHA:53
HP:0031704	Abnormal ear physiology	1186	CLCN7	ORPHA:667
HP:0031704	Abnormal ear physiology	9573	GDF3	ORPHA:2345
HP:0031704	Abnormal ear physiology	4222	MEOX1	ORPHA:2345
HP:0031704	Abnormal ear physiology	7319	UBE2A	ORPHA:163956
HP:0031704	Abnormal ear physiology	9894	TELO2	OMIM:616954
HP:0031704	Abnormal ear physiology	9894	TELO2	ORPHA:488642
HP:0031704	Abnormal ear physiology	4089	SMAD4	ORPHA:2588
HP:0031704	Abnormal ear physiology	4089	SMAD4	OMIM:139210
HP:0031704	Abnormal ear physiology	10075	HUWE1	OMIM:309590
HP:0031704	Abnormal ear physiology	10735	STAG2	OMIM:301043
HP:0031704	Abnormal ear physiology	84627	ZNF469	OMIM:229200
HP:0031704	Abnormal ear physiology	5648	MASP1	OMIM:257920
HP:0031704	Abnormal ear physiology	5648	MASP1	ORPHA:293843
HP:0031704	Abnormal ear physiology	54361	WNT4	ORPHA:2578
HP:0031704	Abnormal ear physiology	6928	HNF1B	ORPHA:2578
HP:0031704	Abnormal ear physiology	6928	HNF1B	ORPHA:261265
HP:0031704	Abnormal ear physiology	6928	HNF1B	ORPHA:93111
HP:0031704	Abnormal ear physiology	55593	OTUD5	OMIM:301056
HP:0031704	Abnormal ear physiology	79587	CARS2	ORPHA:477774
HP:0031704	Abnormal ear physiology	79587	CARS2	OMIM:616672
HP:0031704	Abnormal ear physiology	10229	COQ7	OMIM:616733
HP:0031704	Abnormal ear physiology	83479	DDX59	OMIM:174300
HP:0031704	Abnormal ear physiology	5076	PAX2	ORPHA:1475
HP:0031704	Abnormal ear physiology	117581	TWIST2	ORPHA:1231
HP:0031704	Abnormal ear physiology	117581	TWIST2	OMIM:209885
HP:0031704	Abnormal ear physiology	117581	TWIST2	OMIM:200110
HP:0031704	Abnormal ear physiology	117581	TWIST2	ORPHA:920
HP:0031704	Abnormal ear physiology	4000	LMNA	ORPHA:90153
HP:0031704	Abnormal ear physiology	6597	SMARCA4	ORPHA:1465
HP:0031704	Abnormal ear physiology	6597	SMARCA4	OMIM:620792
HP:0031704	Abnormal ear physiology	6597	SMARCA4	OMIM:614609
HP:0031704	Abnormal ear physiology	6659	SOX4	ORPHA:1465
HP:0031704	Abnormal ear physiology	8289	ARID1A	ORPHA:1465
HP:0031704	Abnormal ear physiology	8289	ARID1A	OMIM:614607
HP:0031704	Abnormal ear physiology	5977	DPF2	ORPHA:1465
HP:0031704	Abnormal ear physiology	5977	DPF2	OMIM:618027
HP:0031704	Abnormal ear physiology	6601	SMARCC2	ORPHA:1465
HP:0031704	Abnormal ear physiology	6602	SMARCD1	ORPHA:1465
HP:0031704	Abnormal ear physiology	57492	ARID1B	ORPHA:1465
HP:0031704	Abnormal ear physiology	57492	ARID1B	OMIM:135900
HP:0031704	Abnormal ear physiology	196528	ARID2	ORPHA:1465
HP:0031704	Abnormal ear physiology	6664	SOX11	ORPHA:1465
HP:0031704	Abnormal ear physiology	4358	MPV17	OMIM:256810
HP:0031704	Abnormal ear physiology	2917	GRM7	OMIM:618922
HP:0031704	Abnormal ear physiology	81620	CDT1	ORPHA:2554
HP:0031704	Abnormal ear physiology	5000	ORC4	ORPHA:2554
HP:0031704	Abnormal ear physiology	23594	ORC6	ORPHA:2554
HP:0031704	Abnormal ear physiology	990	CDC6	ORPHA:2554
HP:0031704	Abnormal ear physiology	51053	GMNN	ORPHA:2554
HP:0031704	Abnormal ear physiology	54539	NDUFB11	ORPHA:2556
HP:0031704	Abnormal ear physiology	54539	NDUFB11	OMIM:309801
HP:0031704	Abnormal ear physiology	1349	COX7B	ORPHA:2556
HP:0031704	Abnormal ear physiology	1349	COX7B	OMIM:309801
HP:0031704	Abnormal ear physiology	3052	HCCS	ORPHA:2556
HP:0031704	Abnormal ear physiology	3052	HCCS	OMIM:309801
HP:0031704	Abnormal ear physiology	4982	TNFRSF11B	OMIM:239000
HP:0031704	Abnormal ear physiology	4982	TNFRSF11B	ORPHA:2801
HP:0031704	Abnormal ear physiology	10943	MSL3	OMIM:301032
HP:0031704	Abnormal ear physiology	4758	NEU1	ORPHA:93400
HP:0031704	Abnormal ear physiology	4758	NEU1	ORPHA:93399
HP:0031704	Abnormal ear physiology	71	ACTG1	OMIM:614583
HP:0031704	Abnormal ear physiology	5167	ENPP1	ORPHA:51608
HP:0031704	Abnormal ear physiology	368	ABCC6	ORPHA:51608
HP:0031704	Abnormal ear physiology	3458	IFNG	OMIM:613254
HP:0031704	Abnormal ear physiology	7249	TSC2	OMIM:613254
HP:0031704	Abnormal ear physiology	998	CDC42	ORPHA:487796
HP:0031704	Abnormal ear physiology	10804	GJB6	ORPHA:189
HP:0031704	Abnormal ear physiology	10804	GJB6	OMIM:612645
HP:0031704	Abnormal ear physiology	1836	SLC26A2	OMIM:222600
HP:0031704	Abnormal ear physiology	1836	SLC26A2	ORPHA:628
HP:0031704	Abnormal ear physiology	55617	TASP1	OMIM:618950
HP:0031704	Abnormal ear physiology	114928	GPRASP2	OMIM:301018
HP:0031704	Abnormal ear physiology	1786	DNMT1	OMIM:614116
HP:0031704	Abnormal ear physiology	4094	MAF	OMIM:601088
HP:0031704	Abnormal ear physiology	259266	ASPM	OMIM:608716
HP:0031704	Abnormal ear physiology	54888	NSUN2	OMIM:611091
HP:0031704	Abnormal ear physiology	54888	NSUN2	ORPHA:235
HP:0031704	Abnormal ear physiology	6651	SON	ORPHA:500150
HP:0031704	Abnormal ear physiology	23558	WBP2	OMIM:617639
HP:0031704	Abnormal ear physiology	64787	EPS8L2	OMIM:617637
HP:0031704	Abnormal ear physiology	79784	MYH14	OMIM:614369
HP:0031704	Abnormal ear physiology	1285	COL4A3	OMIM:104200
HP:0031704	Abnormal ear physiology	1285	COL4A3	OMIM:620536
HP:0031704	Abnormal ear physiology	5286	PIK3C2A	ORPHA:557003
HP:0031704	Abnormal ear physiology	5286	PIK3C2A	OMIM:618440
HP:0031704	Abnormal ear physiology	5205	ATP8B1	OMIM:243300
HP:0031704	Abnormal ear physiology	87178	PNPT1	OMIM:608703
HP:0031704	Abnormal ear physiology	87178	PNPT1	OMIM:614934
HP:0031704	Abnormal ear physiology	23309	SIN3B	ORPHA:500166
HP:0031704	Abnormal ear physiology	1468	SLC25A10	OMIM:618972
HP:0031704	Abnormal ear physiology	5087	PBX1	OMIM:617641
HP:0031704	Abnormal ear physiology	4747	NEFL	OMIM:617882
HP:0031704	Abnormal ear physiology	389207	GRXCR1	OMIM:613285
HP:0031704	Abnormal ear physiology	4281	MID1	ORPHA:2745
HP:0031704	Abnormal ear physiology	8398	PLA2G6	OMIM:256600
HP:0031704	Abnormal ear physiology	242	ALOX12B	ORPHA:79394
HP:0031704	Abnormal ear physiology	204219	CERS3	ORPHA:79394
HP:0031704	Abnormal ear physiology	6820	SULT2B1	ORPHA:79394
HP:0031704	Abnormal ear physiology	285848	PNPLA1	ORPHA:79394
HP:0031704	Abnormal ear physiology	59344	ALOXE3	ORPHA:79394
HP:0031704	Abnormal ear physiology	348938	NIPAL4	ORPHA:79394
HP:0031704	Abnormal ear physiology	7051	TGM1	ORPHA:79394
HP:0031704	Abnormal ear physiology	121214	SDR9C7	ORPHA:79394
HP:0031704	Abnormal ear physiology	352909	DNAAF3	OMIM:606763
HP:0031704	Abnormal ear physiology	352909	DNAAF3	ORPHA:244
HP:0031704	Abnormal ear physiology	10617	STAMBP	OMIM:614261
HP:0031704	Abnormal ear physiology	8367	H4C5	OMIM:619950
HP:0031704	Abnormal ear physiology	8294	H4C9	OMIM:619951
HP:0031704	Abnormal ear physiology	6834	SURF1	OMIM:616684
HP:0031704	Abnormal ear physiology	55823	VPS11	OMIM:616683
HP:0031704	Abnormal ear physiology	22880	MORC2	OMIM:616688
HP:0031704	Abnormal ear physiology	22880	MORC2	OMIM:619090
HP:0031704	Abnormal ear physiology	22880	MORC2	ORPHA:466768
HP:0031704	Abnormal ear physiology	4047	LSS	ORPHA:2850
HP:0031704	Abnormal ear physiology	197	AHSG	ORPHA:2850
HP:0031704	Abnormal ear physiology	3694	ITGB6	ORPHA:2850
HP:0031704	Abnormal ear physiology	1161	ERCC8	ORPHA:90321
HP:0031704	Abnormal ear physiology	1161	ERCC8	ORPHA:90322
HP:0031704	Abnormal ear physiology	2074	ERCC6	ORPHA:90321
HP:0031704	Abnormal ear physiology	2074	ERCC6	ORPHA:90322
HP:0031704	Abnormal ear physiology	2067	ERCC1	ORPHA:90322
HP:0031704	Abnormal ear physiology	6720	SREBF1	OMIM:158310
HP:0031704	Abnormal ear physiology	114803	MYSM1	ORPHA:508542
HP:0031704	Abnormal ear physiology	4522	MTHFD1	OMIM:617780
HP:0031704	Abnormal ear physiology	3021	H3-3B	OMIM:619721
HP:0031704	Abnormal ear physiology	79639	TMEM53	OMIM:619727
HP:0031704	Abnormal ear physiology	23562	CLDN14	OMIM:614035
HP:0031704	Abnormal ear physiology	10730	YME1L1	OMIM:617302
HP:0031704	Abnormal ear physiology	3145	HMBS	OMIM:620711
HP:0031704	Abnormal ear physiology	7086	TKT	ORPHA:488618
HP:0031704	Abnormal ear physiology	137492	VPS37A	ORPHA:319199
HP:0031704	Abnormal ear physiology	7314	UBB	ORPHA:155878
HP:0031704	Abnormal ear physiology	57822	GRHL3	ORPHA:155878
HP:0031704	Abnormal ear physiology	10584	COLEC10	OMIM:248340
HP:0031704	Abnormal ear physiology	10584	COLEC10	ORPHA:293843
HP:0031704	Abnormal ear physiology	284058	KANSL1	ORPHA:363958
HP:0031704	Abnormal ear physiology	284058	KANSL1	ORPHA:363965
HP:0031704	Abnormal ear physiology	25885	POLR1A	OMIM:616462
HP:0031704	Abnormal ear physiology	9469	CHST3	OMIM:143095
HP:0031704	Abnormal ear physiology	91869	RFT1	ORPHA:244310
HP:0031704	Abnormal ear physiology	7021	TFAP2B	ORPHA:46627
HP:0031704	Abnormal ear physiology	90993	CREB3L1	OMIM:616229
HP:0031704	Abnormal ear physiology	1009	CDH11	OMIM:619736
HP:0031704	Abnormal ear physiology	64359	NXN	ORPHA:1507
HP:0031704	Abnormal ear physiology	4920	ROR2	ORPHA:1507
HP:0031704	Abnormal ear physiology	4920	ROR2	OMIM:268310
HP:0031704	Abnormal ear physiology	7020	TFAP2A	OMIM:113620
HP:0031704	Abnormal ear physiology	10815	CPLX1	ORPHA:280
HP:0031704	Abnormal ear physiology	54872	PIGG	ORPHA:280
HP:0031704	Abnormal ear physiology	7469	NELFA	ORPHA:280
HP:0031704	Abnormal ear physiology	1487	CTBP1	ORPHA:280
HP:0031704	Abnormal ear physiology	3954	LETM1	ORPHA:280
HP:0031704	Abnormal ear physiology	7468	NSD2	ORPHA:280
HP:0031704	Abnormal ear physiology	22872	SEC31A	OMIM:618651
HP:0031704	Abnormal ear physiology	7466	WFS1	OMIM:614296
HP:0031704	Abnormal ear physiology	7466	WFS1	OMIM:222300
HP:0031704	Abnormal ear physiology	56992	KIF15	OMIM:619981
HP:0031704	Abnormal ear physiology	57178	ZMIZ1	OMIM:618659
HP:0031704	Abnormal ear physiology	267010	RNU12	ORPHA:85199
HP:0031704	Abnormal ear physiology	79731	NARS2	OMIM:616239
HP:0031704	Abnormal ear physiology	55623	THUMPD1	OMIM:619989
HP:0031704	Abnormal ear physiology	3476	IGBP1	ORPHA:52055
HP:0031704	Abnormal ear physiology	1123	CHN1	ORPHA:233
HP:0031704	Abnormal ear physiology	3981	LIG4	ORPHA:235
HP:0031704	Abnormal ear physiology	79633	FAT4	OMIM:616006
HP:0031704	Abnormal ear physiology	79633	FAT4	OMIM:615546
HP:0031704	Abnormal ear physiology	54902	TTC19	OMIM:615157
HP:0031704	Abnormal ear physiology	57282	SLC4A10	OMIM:620746
HP:0031704	Abnormal ear physiology	25981	DNAH1	OMIM:617577
HP:0031704	Abnormal ear physiology	25981	DNAH1	ORPHA:244
HP:0031704	Abnormal ear physiology	285362	SUMF1	OMIM:272200
HP:0031704	Abnormal ear physiology	26137	ZBTB20	OMIM:259050
HP:0031704	Abnormal ear physiology	54928	BPNT2	OMIM:614078
HP:0031704	Abnormal ear physiology	79803	HPS6	OMIM:614075
HP:0031704	Abnormal ear physiology	8792	TNFRSF11A	ORPHA:2801
HP:0031704	Abnormal ear physiology	8792	TNFRSF11A	ORPHA:1782
HP:0031704	Abnormal ear physiology	8878	SQSTM1	OMIM:167250
HP:0031704	Abnormal ear physiology	8878	SQSTM1	OMIM:617145
HP:0031704	Abnormal ear physiology	10743	RAI1	ORPHA:1713
HP:0031704	Abnormal ear physiology	10743	RAI1	OMIM:182290
HP:0031704	Abnormal ear physiology	57104	PNPLA2	OMIM:610717
HP:0031704	Abnormal ear physiology	5459	POU4F3	OMIM:602459
HP:0031704	Abnormal ear physiology	2706	GJB2	ORPHA:494
HP:0031704	Abnormal ear physiology	2706	GJB2	OMIM:124500
HP:0031704	Abnormal ear physiology	2706	GJB2	OMIM:149200
HP:0031704	Abnormal ear physiology	2706	GJB2	OMIM:148350
HP:0031704	Abnormal ear physiology	4123	MAN2C1	OMIM:619775
HP:0031704	Abnormal ear physiology	79989	IFT56	OMIM:619534
HP:0031704	Abnormal ear physiology	10195	ALG3	ORPHA:79321
HP:0031704	Abnormal ear physiology	115948	ODAD3	ORPHA:244
HP:0031704	Abnormal ear physiology	54768	HYDIN	ORPHA:244
HP:0031704	Abnormal ear physiology	51314	NME8	ORPHA:244
HP:0031704	Abnormal ear physiology	92749	DRC1	ORPHA:244
HP:0031704	Abnormal ear physiology	54970	TTC12	ORPHA:244
HP:0031704	Abnormal ear physiology	152110	NEK10	ORPHA:244
HP:0031704	Abnormal ear physiology	2302	FOXJ1	ORPHA:244
HP:0031704	Abnormal ear physiology	221421	RSPH9	ORPHA:244
HP:0031704	Abnormal ear physiology	85478	CCDC65	ORPHA:244
HP:0031704	Abnormal ear physiology	55036	CCDC40	ORPHA:244
HP:0031704	Abnormal ear physiology	51364	ZMYND10	ORPHA:244
HP:0031704	Abnormal ear physiology	64446	DNAI2	ORPHA:244
HP:0031704	Abnormal ear physiology	8382	NME5	ORPHA:244
HP:0031704	Abnormal ear physiology	6674	SPAG1	ORPHA:244
HP:0031704	Abnormal ear physiology	83544	DNAL1	ORPHA:244
HP:0031704	Abnormal ear physiology	89765	RSPH1	ORPHA:244
HP:0031704	Abnormal ear physiology	83538	ODAD4	ORPHA:244
HP:0031704	Abnormal ear physiology	200373	CFAP221	ORPHA:244
HP:0031704	Abnormal ear physiology	374407	DNAJB13	ORPHA:244
HP:0031704	Abnormal ear physiology	55172	DNAAF2	ORPHA:244
HP:0031704	Abnormal ear physiology	161582	DNAAF4	ORPHA:244
HP:0031704	Abnormal ear physiology	2622	GAS8	ORPHA:244
HP:0031704	Abnormal ear physiology	23639	DNAAF11	ORPHA:244
HP:0031704	Abnormal ear physiology	27019	DNAI1	ORPHA:244
HP:0031704	Abnormal ear physiology	345895	RSPH4A	ORPHA:244
HP:0031704	Abnormal ear physiology	54919	DNAAF5	ORPHA:244
HP:0031704	Abnormal ear physiology	6103	RPGR	ORPHA:244
HP:0031704	Abnormal ear physiology	85452	CFAP74	ORPHA:244
HP:0031704	Abnormal ear physiology	93233	ODAD1	ORPHA:244
HP:0031704	Abnormal ear physiology	55130	ODAD2	ORPHA:244
HP:0031704	Abnormal ear physiology	1767	DNAH5	ORPHA:244
HP:0031704	Abnormal ear physiology	83861	RSPH3	ORPHA:244
HP:0031704	Abnormal ear physiology	345643	MCIDAS	ORPHA:244
HP:0031704	Abnormal ear physiology	56683	CFAP298	ORPHA:244
HP:0031704	Abnormal ear physiology	79925	SPEF2	ORPHA:244
HP:0031704	Abnormal ear physiology	10309	CCNO	ORPHA:244
HP:0031704	Abnormal ear physiology	115399	LRRC56	ORPHA:244
HP:0031704	Abnormal ear physiology	139212	DNAAF6	ORPHA:244
HP:0031704	Abnormal ear physiology	123872	DNAAF1	ORPHA:244
HP:0031704	Abnormal ear physiology	85016	CFAP300	ORPHA:244
HP:0031704	Abnormal ear physiology	339829	CCDC39	ORPHA:244
HP:0031704	Abnormal ear physiology	8701	DNAH11	ORPHA:244
HP:0031704	Abnormal ear physiology	1770	DNAH9	ORPHA:244
HP:0031704	Abnormal ear physiology	246176	GAS2L2	ORPHA:244
HP:0031704	Abnormal ear physiology	79628	SH3TC2	OMIM:601596
HP:0031704	Abnormal ear physiology	29893	PSMC3IP	ORPHA:243
HP:0031704	Abnormal ear physiology	171568	POLR3H	ORPHA:243
HP:0031704	Abnormal ear physiology	2516	NR5A1	ORPHA:243
HP:0031704	Abnormal ear physiology	125150	ZSWIM7	ORPHA:243
HP:0031704	Abnormal ear physiology	9210	BMP15	ORPHA:243
HP:0031704	Abnormal ear physiology	57122	NUP107	ORPHA:243
HP:0031704	Abnormal ear physiology	23514	SPIDR	ORPHA:243
HP:0031704	Abnormal ear physiology	2492	FSHR	ORPHA:243
HP:0031704	Abnormal ear physiology	56945	MRPS22	ORPHA:243
HP:0031704	Abnormal ear physiology	646	BNC1	ORPHA:243
HP:0031704	Abnormal ear physiology	4438	MSH4	ORPHA:243
HP:0031704	Abnormal ear physiology	10262	SF3B4	ORPHA:245
HP:0031704	Abnormal ear physiology	10262	SF3B4	OMIM:154400
HP:0031704	Abnormal ear physiology	23676	SMPX	OMIM:301075
HP:0031704	Abnormal ear physiology	10058	ABCB6	ORPHA:241
HP:0031704	Abnormal ear physiology	8295	TRRAP	OMIM:618454
HP:0031704	Abnormal ear physiology	4509	MT-ATP8	ORPHA:480
HP:0031704	Abnormal ear physiology	4567	MT-TL1	ORPHA:480
HP:0031704	Abnormal ear physiology	5111	PCNA	ORPHA:438134
HP:0031704	Abnormal ear physiology	1892	ECHS1	OMIM:616277
HP:0031704	Abnormal ear physiology	51117	COQ4	OMIM:616276
HP:0031704	Abnormal ear physiology	5277	PIGA	OMIM:301072
HP:0031704	Abnormal ear physiology	5277	PIGA	OMIM:300868
HP:0031704	Abnormal ear physiology	204	AK2	ORPHA:33355
HP:0031704	Abnormal ear physiology	54808	DYM	ORPHA:239
HP:0031704	Abnormal ear physiology	3912	LAMB1	OMIM:615191
HP:0031704	Abnormal ear physiology	79879	CCDC134	OMIM:619795
HP:0031704	Abnormal ear physiology	23013	SPEN	OMIM:619312
HP:0031704	Abnormal ear physiology	127833	SYT2	OMIM:616040
HP:0031704	Abnormal ear physiology	55628	ZNF407	OMIM:619557
HP:0031704	Abnormal ear physiology	23345	SYNE1	OMIM:610743
HP:0031704	Abnormal ear physiology	4076	CAPRIN1	OMIM:620782
HP:0031704	Abnormal ear physiology	29887	SNX10	ORPHA:667
HP:0031704	Abnormal ear physiology	8600	TNFSF11	ORPHA:667
HP:0031704	Abnormal ear physiology	55869	HDAC8	OMIM:300882
HP:0031704	Abnormal ear physiology	2581	GALC	ORPHA:206443
HP:0031704	Abnormal ear physiology	2581	GALC	ORPHA:206436
HP:0031704	Abnormal ear physiology	2581	GALC	OMIM:245200
HP:0031704	Abnormal ear physiology	478	ATP1A3	OMIM:601338
HP:0031704	Abnormal ear physiology	29078	NDUFAF4	OMIM:618237
HP:0031704	Abnormal ear physiology	2068	ERCC2	OMIM:610756
HP:0031704	Abnormal ear physiology	2068	ERCC2	ORPHA:910
HP:0031704	Abnormal ear physiology	2068	ERCC2	ORPHA:220295
HP:0031704	Abnormal ear physiology	1908	EDN3	ORPHA:897
HP:0031704	Abnormal ear physiology	4286	MITF	ORPHA:897
HP:0031704	Abnormal ear physiology	4286	MITF	ORPHA:42665
HP:0031704	Abnormal ear physiology	4286	MITF	ORPHA:895
HP:0031704	Abnormal ear physiology	1910	EDNRB	ORPHA:897
HP:0031704	Abnormal ear physiology	1910	EDNRB	ORPHA:895
HP:0031704	Abnormal ear physiology	1910	EDNRB	OMIM:600501
HP:0031704	Abnormal ear physiology	5077	PAX3	ORPHA:896
HP:0031704	Abnormal ear physiology	5077	PAX3	ORPHA:894
HP:0031704	Abnormal ear physiology	9126	SMC3	OMIM:610759
HP:0031704	Abnormal ear physiology	79944	L2HGDH	OMIM:236792
HP:0031704	Abnormal ear physiology	4942	OAT	ORPHA:414
HP:0031704	Abnormal ear physiology	8869	ST3GAL5	OMIM:609056
HP:0031704	Abnormal ear physiology	79955	PDZD7	OMIM:618003
HP:0031704	Abnormal ear physiology	51473	DCDC2	OMIM:617394
HP:0031704	Abnormal ear physiology	4704	NDUFA9	OMIM:618247
HP:0031704	Abnormal ear physiology	1108	CHD4	OMIM:617159
HP:0031704	Abnormal ear physiology	51079	NDUFA13	OMIM:618249
HP:0031704	Abnormal ear physiology	400569	MED11	OMIM:620327
HP:0031704	Abnormal ear physiology	29920	PYCR2	ORPHA:481152
HP:0031704	Abnormal ear physiology	29920	PYCR2	OMIM:616420
HP:0031704	Abnormal ear physiology	2077	ERF	ORPHA:207
HP:0031704	Abnormal ear physiology	23389	MED13L	ORPHA:369891
HP:0031704	Abnormal ear physiology	2898	GRIK2	OMIM:619580
HP:0031704	Abnormal ear physiology	10483	SEC23B	ORPHA:201
HP:0031704	Abnormal ear physiology	5728	PTEN	ORPHA:201
HP:0031704	Abnormal ear physiology	5728	PTEN	ORPHA:397596
HP:0031704	Abnormal ear physiology	5728	PTEN	OMIM:158350
HP:0031704	Abnormal ear physiology	205717	USF3	ORPHA:201
HP:0031704	Abnormal ear physiology	100144748	KLLN	ORPHA:201
HP:0031704	Abnormal ear physiology	9496	TBX4	ORPHA:261279
HP:0031704	Abnormal ear physiology	2332	FMR1	OMIM:300623
HP:0031704	Abnormal ear physiology	26276	VPS33B	OMIM:208085
HP:0031704	Abnormal ear physiology	1822	ATN1	OMIM:618494
HP:0031704	Abnormal ear physiology	26040	SETBP1	OMIM:616078
HP:0031704	Abnormal ear physiology	5144	PDE4D	ORPHA:439822
HP:0031704	Abnormal ear physiology	5144	PDE4D	ORPHA:950
HP:0031704	Abnormal ear physiology	5573	PRKAR1A	OMIM:101800
HP:0031704	Abnormal ear physiology	5573	PRKAR1A	ORPHA:950
HP:0031704	Abnormal ear physiology	11340	EXOSC8	OMIM:616081
HP:0031704	Abnormal ear physiology	3975	LHX1	ORPHA:261265
HP:0031704	Abnormal ear physiology	3852	KRT5	OMIM:619599
HP:0031704	Abnormal ear physiology	4041	LRP5	ORPHA:178377
HP:0031704	Abnormal ear physiology	4041	LRP5	ORPHA:891
HP:0031704	Abnormal ear physiology	51604	PIGT	ORPHA:369837
HP:0031704	Abnormal ear physiology	145173	B3GLCT	OMIM:261540
HP:0031704	Abnormal ear physiology	5702	PSMC3	OMIM:619354
HP:0031704	Abnormal ear physiology	440138	ALG11	ORPHA:280071
HP:0031704	Abnormal ear physiology	29123	ANKRD11	ORPHA:261250
HP:0031704	Abnormal ear physiology	57704	GBA2	ORPHA:320391
HP:0031704	Abnormal ear physiology	57704	GBA2	OMIM:614409
HP:0031704	Abnormal ear physiology	6299	SALL1	ORPHA:857
HP:0031704	Abnormal ear physiology	51339	DACT1	ORPHA:857
HP:0031704	Abnormal ear physiology	8911	CACNA1I	OMIM:620114
HP:0031704	Abnormal ear physiology	7299	TYR	ORPHA:895
HP:0031704	Abnormal ear physiology	6591	SNAI2	ORPHA:895
HP:0031704	Abnormal ear physiology	6591	SNAI2	ORPHA:2884
HP:0031704	Abnormal ear physiology	4254	KITLG	ORPHA:895
HP:0031704	Abnormal ear physiology	4693	NDP	ORPHA:891
HP:0031704	Abnormal ear physiology	23554	TSPAN12	ORPHA:891
HP:0031704	Abnormal ear physiology	79797	ZNF408	ORPHA:891
HP:0031704	Abnormal ear physiology	8322	FZD4	ORPHA:891
HP:0031704	Abnormal ear physiology	55898	UNC45A	OMIM:619377
HP:0031704	Abnormal ear physiology	55005	RMND1	OMIM:614922
HP:0031704	Abnormal ear physiology	3295	HSD17B4	OMIM:261515
HP:0031704	Abnormal ear physiology	5660	PSAP	ORPHA:206436
HP:0031704	Abnormal ear physiology	4508	MT-ATP6	ORPHA:644
HP:0031704	Abnormal ear physiology	79644	SRD5A3	ORPHA:324737
HP:0031704	Abnormal ear physiology	6913	TBX15	OMIM:260660
HP:0031704	Abnormal ear physiology	6913	TBX15	ORPHA:93333
HP:0031704	Abnormal ear physiology	27161	AGO2	OMIM:619149
HP:0031704	Abnormal ear physiology	161742	SPRED1	ORPHA:137605
HP:0031704	Abnormal ear physiology	121340	SP7	OMIM:613849
HP:0031704	Abnormal ear physiology	58499	ZNF462	ORPHA:502430
HP:0031704	Abnormal ear physiology	58499	ZNF462	OMIM:618619
HP:0031704	Abnormal ear physiology	259232	NALCN	ORPHA:2053
HP:0031704	Abnormal ear physiology	8506	CNTNAP1	OMIM:618186
HP:0031704	Abnormal ear physiology	80207	OPA3	OMIM:165300
HP:0031704	Abnormal ear physiology	8496	PPFIBP1	OMIM:620024
HP:0031704	Abnormal ear physiology	132158	GLYCTK	ORPHA:941
HP:0031704	Abnormal ear physiology	9690	UBE3C	OMIM:620270
HP:0031704	Abnormal ear physiology	374654	KIF7	OMIM:200990
HP:0031704	Abnormal ear physiology	5176	SERPINF1	OMIM:613982
HP:0031704	Abnormal ear physiology	5689	PSMB1	OMIM:620038
HP:0031704	Abnormal ear physiology	5298	PI4KB	OMIM:620281
HP:0031704	Abnormal ear physiology	10134	BCAP31	ORPHA:369939
HP:0031704	Abnormal ear physiology	26277	TINF2	OMIM:613990
HP:0031704	Abnormal ear physiology	26277	TINF2	ORPHA:1775
HP:0031704	Abnormal ear physiology	9739	SETD1A	OMIM:619056
HP:0031704	Abnormal ear physiology	55037	PTCD3	OMIM:619057
HP:0031704	Abnormal ear physiology	84823	LMNB2	ORPHA:79087
HP:0031704	Abnormal ear physiology	7276	TTR	OMIM:105210
HP:0031704	Abnormal ear physiology	284656	EPHA10	OMIM:620283
HP:0031704	Abnormal ear physiology	474	ATOH1	OMIM:620284
HP:0031704	Abnormal ear physiology	8802	SUCLG1	OMIM:245400
HP:0031704	Abnormal ear physiology	1717	DHCR7	OMIM:270400
HP:0031704	Abnormal ear physiology	2720	GLB1	OMIM:253010
HP:0031704	Abnormal ear physiology	2720	GLB1	ORPHA:79255
HP:0031704	Abnormal ear physiology	649	BMP1	OMIM:614856
HP:0031704	Abnormal ear physiology	57465	TBC1D24	OMIM:614617
HP:0031704	Abnormal ear physiology	57465	TBC1D24	OMIM:220500
HP:0031704	Abnormal ear physiology	4853	NOTCH2	ORPHA:955
HP:0031704	Abnormal ear physiology	10558	SPTLC1	ORPHA:36386
HP:0031704	Abnormal ear physiology	25923	ATL3	ORPHA:36386
HP:0031704	Abnormal ear physiology	9517	SPTLC2	ORPHA:36386
HP:0031704	Abnormal ear physiology	51062	ATL1	ORPHA:36386
HP:0031704	Abnormal ear physiology	2615	LRRC32	OMIM:619074
HP:0031704	Abnormal ear physiology	443	ASPA	OMIM:271900
HP:0031704	Abnormal ear physiology	259236	TMIE	OMIM:600971
HP:0031704	Abnormal ear physiology	8905	AP1S2	ORPHA:85335
HP:0031704	Abnormal ear physiology	1857	DVL3	ORPHA:3107
HP:0031704	Abnormal ear physiology	1857	DVL3	OMIM:616894
HP:0031704	Abnormal ear physiology	7474	WNT5A	ORPHA:3107
HP:0031704	Abnormal ear physiology	2535	FZD2	ORPHA:3107
HP:0031704	Abnormal ear physiology	8626	TP63	OMIM:129400
HP:0031704	Abnormal ear physiology	8626	TP63	OMIM:604292
HP:0031704	Abnormal ear physiology	9289	ADGRG1	ORPHA:98889
HP:0031704	Abnormal ear physiology	5297	PI4KA	ORPHA:98889
HP:0031704	Abnormal ear physiology	27286	SRPX2	ORPHA:98889
HP:0031704	Abnormal ear physiology	5700	PSMC1	OMIM:620071
HP:0031704	Abnormal ear physiology	78989	COLEC11	OMIM:265050
HP:0031704	Abnormal ear physiology	78989	COLEC11	ORPHA:293843
HP:0031704	Abnormal ear physiology	58508	KMT2C	ORPHA:261652
HP:0031704	Abnormal ear physiology	5293	PIK3CD	ORPHA:397596
HP:0031704	Abnormal ear physiology	5295	PIK3R1	ORPHA:397596
HP:0031704	Abnormal ear physiology	2548	GAA	ORPHA:308552
HP:0031704	Abnormal ear physiology	2548	GAA	OMIM:232300
HP:0031704	Abnormal ear physiology	3845	KRAS	ORPHA:3339
HP:0031704	Abnormal ear physiology	84919	PPP1R15B	OMIM:616817
HP:0031704	Abnormal ear physiology	6231	RPS26	OMIM:613309
HP:0031704	Abnormal ear physiology	26047	CNTNAP2	OMIM:610042
HP:0031704	Abnormal ear physiology	3329	HSPD1	ORPHA:100994
HP:0031704	Abnormal ear physiology	80067	DCAF17	OMIM:241080
HP:0031704	Abnormal ear physiology	3798	KIF5A	ORPHA:100991
HP:0031704	Abnormal ear physiology	2317	FLNB	OMIM:150250
HP:0031704	Abnormal ear physiology	25861	WHRN	OMIM:611383
HP:0031704	Abnormal ear physiology	23590	PDSS1	OMIM:614651
HP:0031704	Abnormal ear physiology	91147	TMEM67	ORPHA:140976
HP:0031704	Abnormal ear physiology	51475	CABP2	OMIM:614899
HP:0031704	Abnormal ear physiology	10664	CTCF	OMIM:615502
HP:0031704	Abnormal ear physiology	2719	GPC3	OMIM:312870
HP:0031704	Abnormal ear physiology	2239	GPC4	OMIM:312870
HP:0031704	Abnormal ear physiology	27152	INTU	OMIM:617926
HP:0031704	Abnormal ear physiology	865	CBFB	OMIM:620099
HP:0031704	Abnormal ear physiology	7507	XPA	ORPHA:910
HP:0031704	Abnormal ear physiology	2071	ERCC3	ORPHA:910
HP:0031704	Abnormal ear physiology	2071	ERCC3	ORPHA:220295
HP:0031704	Abnormal ear physiology	7508	XPC	ORPHA:910
HP:0031704	Abnormal ear physiology	1643	DDB2	ORPHA:910
HP:0031704	Abnormal ear physiology	2073	ERCC5	ORPHA:910
HP:0031704	Abnormal ear physiology	2073	ERCC5	ORPHA:220295
HP:0031704	Abnormal ear physiology	6938	TCF12	ORPHA:35099
HP:0031704	Abnormal ear physiology	7545	ZIC1	ORPHA:35099
HP:0031704	Abnormal ear physiology	92935	MARS2	OMIM:611390
HP:0031704	Abnormal ear physiology	9780	PIEZO1	OMIM:616843
HP:0031704	Abnormal ear physiology	29926	GMPPA	OMIM:615510
HP:0031704	Abnormal ear physiology	85358	SHANK3	OMIM:606232
HP:0031704	Abnormal ear physiology	411	ARSB	OMIM:253200
HP:0031704	Abnormal ear physiology	113179	ADAT3	ORPHA:363528
HP:0031704	Abnormal ear physiology	55784	MCTP2	ORPHA:1596
HP:0031704	Abnormal ear physiology	6657	SOX2	ORPHA:77298
HP:0031704	Abnormal ear physiology	9512	PMPCB	OMIM:617954
HP:0031704	Abnormal ear physiology	686	BTD	ORPHA:79241
HP:0031704	Abnormal ear physiology	2232	FDXR	OMIM:617717
HP:0031704	Abnormal ear physiology	2248	FGF3	ORPHA:90024
HP:0031704	Abnormal ear physiology	7421	VDR	OMIM:277440
HP:0031704	Abnormal ear physiology	54658	UGT1A1	ORPHA:79234
HP:0031704	Abnormal ear physiology	7874	USP7	ORPHA:500055
HP:0031704	Abnormal ear physiology	2643	GCH1	ORPHA:98808
HP:0031704	Abnormal ear physiology	4929	NR4A2	ORPHA:98808
HP:0031704	Abnormal ear physiology	3615	IMPDH2	ORPHA:98808
HP:0031704	Abnormal ear physiology	2588	GALNS	OMIM:253000
HP:0031704	Abnormal ear physiology	51002	TPRKB	OMIM:617731
HP:0031704	Abnormal ear physiology	8405	SPOP	OMIM:618828
HP:0031704	Abnormal ear physiology	23630	KCNE5	ORPHA:86818
HP:0031704	Abnormal ear physiology	2182	ACSL4	ORPHA:86818
HP:0031704	Abnormal ear physiology	9949	AMMECR1	ORPHA:86818
HP:0031704	Abnormal ear physiology	55278	QRSL1	OMIM:618835
HP:0031704	Abnormal ear physiology	5188	GATB	OMIM:618838
HP:0031704	Abnormal ear physiology	283459	GATC	OMIM:618839
HP:0031704	Abnormal ear physiology	3815	KIT	ORPHA:2884
HP:0031704	Abnormal ear physiology	8241	RBM10	ORPHA:2886
HP:0031704	Abnormal ear physiology	25782	RAB3GAP2	ORPHA:401830
HP:0031704	Abnormal ear physiology	1736	DKC1	OMIM:301108
HP:0031704	Abnormal ear physiology	1736	DKC1	ORPHA:1775
HP:0031704	Abnormal ear physiology	210	ALAD	ORPHA:100924
HP:0031704	Abnormal ear physiology	374462	PTPRQ	OMIM:613391
HP:0031704	Abnormal ear physiology	9197	SLC33A1	OMIM:614482
HP:0031704	Abnormal ear physiology	51780	KDM3B	OMIM:618846
HP:0031704	Abnormal ear physiology	1663	DDX11	OMIM:613398
HP:0031704	Abnormal ear physiology	2990	GUSB	OMIM:253220
HP:0031704	Abnormal ear physiology	5718	PSMD12	OMIM:617516
HP:0031704	Abnormal ear physiology	4848	CNOT2	OMIM:618608
HP:0031704	Abnormal ear physiology	23404	EXOSC2	OMIM:617763
HP:0031704	Abnormal ear physiology	8803	SUCLA2	OMIM:612073
HP:0031704	Abnormal ear physiology	2036	EPB41L1	OMIM:614257
HP:0031704	Abnormal ear physiology	80169	CTC1	ORPHA:1775
HP:0031704	Abnormal ear physiology	55651	NHP2	ORPHA:1775
HP:0031704	Abnormal ear physiology	79650	USB1	ORPHA:1775
HP:0031704	Abnormal ear physiology	55135	WRAP53	ORPHA:1775
HP:0031704	Abnormal ear physiology	51750	RTEL1	ORPHA:1775
HP:0031704	Abnormal ear physiology	4869	NPM1	ORPHA:1775
HP:0031704	Abnormal ear physiology	7012	TERC	ORPHA:1775
HP:0031704	Abnormal ear physiology	55505	NOP10	ORPHA:1775
HP:0031704	Abnormal ear physiology	5073	PARN	ORPHA:1775
HP:0031704	Abnormal ear physiology	7298	TYMS	ORPHA:1775
HP:0031704	Abnormal ear physiology	6736	SRY	ORPHA:1772
HP:0031704	Abnormal ear physiology	55753	OGDHL	OMIM:619701
HP:0031704	Abnormal ear physiology	5781	PTPN11	OMIM:163950
HP:0031704	Abnormal ear physiology	2737	GLI3	ORPHA:93322
HP:0031704	Abnormal ear physiology	153562	MARVELD2	OMIM:610153
HP:0031704	Abnormal ear physiology	107	ADCY1	OMIM:610154
HP:0031704	Abnormal ear physiology	3082	HGF	OMIM:608265
HP:0031704	Abnormal ear physiology	10194	TSHZ1	OMIM:607842
HP:0031704	Abnormal ear physiology	341640	FREM2	ORPHA:2052
HP:0031704	Abnormal ear physiology	80144	FRAS1	ORPHA:2052
HP:0031704	Abnormal ear physiology	80144	FRAS1	OMIM:219000
HP:0031704	Abnormal ear physiology	23426	GRIP1	ORPHA:2052
HP:0031704	Abnormal ear physiology	6228	RPS23	OMIM:617412
HP:0031704	Abnormal ear physiology	5447	POR	ORPHA:95699
HP:0031704	Abnormal ear physiology	5447	POR	OMIM:201750
HP:0031704	Abnormal ear physiology	4487	MSX1	ORPHA:199302
HP:0031704	Abnormal ear physiology	4487	MSX1	ORPHA:199306
HP:0031704	Abnormal ear physiology	5818	NECTIN1	ORPHA:199302
HP:0031704	Abnormal ear physiology	5818	NECTIN1	ORPHA:199306
HP:0031704	Abnormal ear physiology	3664	IRF6	ORPHA:199302
HP:0031704	Abnormal ear physiology	3664	IRF6	ORPHA:199306
HP:0031704	Abnormal ear physiology	57589	RIC1	ORPHA:199306
HP:0031704	Abnormal ear physiology	1739	DLG1	ORPHA:199306
HP:0031704	Abnormal ear physiology	999	CDH1	ORPHA:199306
HP:0031704	Abnormal ear physiology	999	CDH1	ORPHA:1997
HP:0031704	Abnormal ear physiology	5156	PDGFRA	ORPHA:199306
HP:0031704	Abnormal ear physiology	1748	DLX4	ORPHA:199306
HP:0031704	Abnormal ear physiology	22837	COBLL1	ORPHA:199306
HP:0031704	Abnormal ear physiology	54848	ARHGEF38	ORPHA:199306
HP:0031704	Abnormal ear physiology	9411	ARHGAP29	ORPHA:199306
HP:0031704	Abnormal ear physiology	1723	DHODH	OMIM:263750
HP:0031704	Abnormal ear physiology	1723	DHODH	ORPHA:246
HP:0031704	Abnormal ear physiology	2314	FLII	ORPHA:819
HP:0031704	Abnormal ear physiology	23096	IQSEC2	ORPHA:819
HP:0031704	Abnormal ear physiology	10522	DEAF1	ORPHA:819
HP:0031704	Abnormal ear physiology	10847	SRCAP	ORPHA:2044
HP:0031704	Abnormal ear physiology	10847	SRCAP	OMIM:136140
HP:0031704	Abnormal ear physiology	9382	COG1	OMIM:611209
HP:0031704	Abnormal ear physiology	1500	CTNND1	ORPHA:1997
HP:0031704	Abnormal ear physiology	2590	GALNT2	OMIM:618885
HP:0031704	Abnormal ear physiology	83879	CDCA7	OMIM:616910
HP:0031704	Abnormal ear physiology	2254	FGF9	ORPHA:3237
HP:0031704	Abnormal ear physiology	3590	IL11RA	OMIM:614188
HP:0031704	Abnormal ear physiology	9508	ADAMTS3	ORPHA:2136
HP:0031704	Abnormal ear physiology	145258	GSC	OMIM:602471
HP:0031704	Abnormal ear physiology	6628	SNRPB	ORPHA:1393
HP:0031704	Abnormal ear physiology	6628	SNRPB	OMIM:117650
HP:0031704	Abnormal ear physiology	55343	SLC35C1	ORPHA:99843
HP:0031704	Abnormal ear physiology	6949	TCOF1	OMIM:154500
HP:0031704	Abnormal ear physiology	6949	TCOF1	ORPHA:861
HP:0031704	Abnormal ear physiology	257	ALX3	OMIM:136760
HP:0031704	Abnormal ear physiology	9533	POLR1C	OMIM:248390
HP:0031704	Abnormal ear physiology	9533	POLR1C	ORPHA:861
HP:0031704	Abnormal ear physiology	5396	PRRX1	OMIM:202650
HP:0031704	Abnormal ear physiology	11267	SNF8	OMIM:620784
HP:0031704	Abnormal ear physiology	4750	NEK1	OMIM:252100
HP:0031704	Abnormal ear physiology	4750	NEK1	ORPHA:2751
HP:0031704	Abnormal ear physiology	5075	PAX1	ORPHA:2792
HP:0031704	Abnormal ear physiology	7703	PCGF2	OMIM:618371
HP:0031704	Abnormal ear physiology	774	CACNA1B	OMIM:618497
HP:0031704	Abnormal ear physiology	139285	AMER1	ORPHA:2780
HP:0031704	Abnormal ear physiology	139285	AMER1	OMIM:300373
HP:0031704	Abnormal ear physiology	9343	EFTUD2	OMIM:610536
HP:0031704	Abnormal ear physiology	9343	EFTUD2	ORPHA:79113
HP:0031704	Abnormal ear physiology	6874	TAF4	OMIM:620450
HP:0031704	Abnormal ear physiology	84172	POLR1B	OMIM:618939
HP:0031704	Abnormal ear physiology	84172	POLR1B	ORPHA:861
HP:0031704	Abnormal ear physiology	760	CA2	ORPHA:2785
HP:0031704	Abnormal ear physiology	29957	SLC25A24	ORPHA:2095
HP:0031704	Abnormal ear physiology	29957	SLC25A24	OMIM:612289
HP:0031704	Abnormal ear physiology	65250	CPLANE1	OMIM:277170
HP:0031704	Abnormal ear physiology	65250	CPLANE1	ORPHA:2754
HP:0031704	Abnormal ear physiology	8092	ALX1	ORPHA:306542
HP:0031704	Abnormal ear physiology	28962	OSTM1	ORPHA:85179
HP:0031704	Abnormal ear physiology	246329	STAC3	ORPHA:168572
HP:0031704	Abnormal ear physiology	246329	STAC3	OMIM:255995
HP:0031704	Abnormal ear physiology	2131	EXT1	ORPHA:502
HP:0031704	Abnormal ear physiology	7227	TRPS1	ORPHA:502
HP:0031704	Abnormal ear physiology	10269	ZMPSTE24	ORPHA:740
HP:0031704	Abnormal ear physiology	51082	POLR1D	ORPHA:861
HP:0031704	Abnormal ear physiology	51082	POLR1D	OMIM:613717
HP:0031704	Abnormal ear physiology	1984	EIF5A	OMIM:619376
HP:0031704	Abnormal ear physiology	650	BMP2	OMIM:617877
HP:0031704	Abnormal ear physiology	26123	TCTN3	ORPHA:2753
HP:0031704	Abnormal ear physiology	26123	TCTN3	ORPHA:2754
HP:0031704	Abnormal ear physiology	79583	TMEM231	ORPHA:2754
HP:0031704	Abnormal ear physiology	9851	KIAA0753	ORPHA:2754
HP:0031704	Abnormal ear physiology	5147	PDE6D	ORPHA:2754
HP:0031704	Abnormal ear physiology	51259	TMEM216	ORPHA:2754
HP:0031704	Abnormal ear physiology	90121	TSR2	OMIM:300946
HP:0031704	Abnormal ear physiology	4921	DDR2	OMIM:618175
HP:0031704	Abnormal ear physiology	2549	GAB1	OMIM:605428
HP:0031704	Abnormal ear physiology	6389	SDHA	ORPHA:154
HP:0031704	Abnormal ear physiology	10486	CAP2	ORPHA:154
HP:0031704	Abnormal ear physiology	7716	VEZF1	ORPHA:154
HP:0031704	Abnormal ear physiology	10060	ABCC9	ORPHA:154
HP:0031704	Abnormal ear physiology	7168	TPM1	ORPHA:154
HP:0031704	Abnormal ear physiology	27063	ANKRD1	ORPHA:154
HP:0031704	Abnormal ear physiology	1410	CRYAB	ORPHA:154
HP:0031704	Abnormal ear physiology	439	GET3	ORPHA:154
HP:0031704	Abnormal ear physiology	7273	TTN	ORPHA:154
HP:0031704	Abnormal ear physiology	5350	PLN	ORPHA:154
HP:0031704	Abnormal ear physiology	5664	PSEN2	ORPHA:154
HP:0031704	Abnormal ear physiology	9529	BAG5	ORPHA:154
HP:0031704	Abnormal ear physiology	4607	MYBPC3	ORPHA:154
HP:0031704	Abnormal ear physiology	11155	LDB3	ORPHA:154
HP:0031704	Abnormal ear physiology	2274	FHL2	ORPHA:154
HP:0031704	Abnormal ear physiology	1756	DMD	ORPHA:154
HP:0031704	Abnormal ear physiology	84665	MYPN	ORPHA:154
HP:0031704	Abnormal ear physiology	1674	DES	ORPHA:154
HP:0031704	Abnormal ear physiology	442721	LMOD2	ORPHA:154
HP:0031704	Abnormal ear physiology	8557	TCAP	ORPHA:154
HP:0031704	Abnormal ear physiology	57158	JPH2	ORPHA:154
HP:0031704	Abnormal ear physiology	9015	TAF1A	ORPHA:154
HP:0031704	Abnormal ear physiology	5663	PSEN1	ORPHA:154
HP:0031704	Abnormal ear physiology	7112	TMPO	ORPHA:154
HP:0031704	Abnormal ear physiology	9464	HAND2	ORPHA:154
HP:0031704	Abnormal ear physiology	4625	MYH7	ORPHA:154
HP:0031704	Abnormal ear physiology	88	ACTN2	ORPHA:154
HP:0031704	Abnormal ear physiology	7414	VCL	ORPHA:154
HP:0031704	Abnormal ear physiology	1832	DSP	ORPHA:154
HP:0031704	Abnormal ear physiology	70	ACTC1	ORPHA:154
HP:0031704	Abnormal ear physiology	6123	RPL3L	ORPHA:154
HP:0031704	Abnormal ear physiology	8048	CSRP3	ORPHA:154
HP:0031704	Abnormal ear physiology	7139	TNNT2	ORPHA:154
HP:0031704	Abnormal ear physiology	1829	DSG2	ORPHA:154
HP:0031704	Abnormal ear physiology	3910	LAMA4	ORPHA:154
HP:0031704	Abnormal ear physiology	63976	PRDM16	ORPHA:154
HP:0031704	Abnormal ear physiology	63976	PRDM16	ORPHA:1606
HP:0031704	Abnormal ear physiology	10587	TXNRD2	ORPHA:154
HP:0031704	Abnormal ear physiology	9531	BAG3	ORPHA:154
HP:0031704	Abnormal ear physiology	91624	NEXN	ORPHA:154
HP:0031704	Abnormal ear physiology	79717	PPCS	ORPHA:154
HP:0031704	Abnormal ear physiology	4624	MYH6	ORPHA:154
HP:0031704	Abnormal ear physiology	282996	RBM20	ORPHA:154
HP:0031704	Abnormal ear physiology	7137	TNNI3	ORPHA:154
HP:0031704	Abnormal ear physiology	6901	TAFAZZIN	ORPHA:154
HP:0031704	Abnormal ear physiology	22845	DOLK	ORPHA:154
HP:0031704	Abnormal ear physiology	5894	RAF1	ORPHA:154
HP:0031704	Abnormal ear physiology	5894	RAF1	ORPHA:500
HP:0031704	Abnormal ear physiology	5894	RAF1	ORPHA:648
HP:0031704	Abnormal ear physiology	57798	GATAD1	ORPHA:154
HP:0031704	Abnormal ear physiology	7134	TNNC1	ORPHA:154
HP:0031704	Abnormal ear physiology	6444	SGCD	ORPHA:154
HP:0031704	Abnormal ear physiology	2218	FKTN	ORPHA:154
HP:0031704	Abnormal ear physiology	51399	TRAPPC4	OMIM:618741
HP:0031704	Abnormal ear physiology	23019	CNOT1	OMIM:618500
HP:0031704	Abnormal ear physiology	1024	CDK8	OMIM:618748
HP:0031704	Abnormal ear physiology	5238	PGM3	ORPHA:443811
HP:0031704	Abnormal ear physiology	5238	PGM3	OMIM:615816
HP:0031704	Abnormal ear physiology	5165	PDK3	OMIM:300905
HP:0031704	Abnormal ear physiology	5165	PDK3	ORPHA:352675
HP:0031704	Abnormal ear physiology	51	ACOX1	ORPHA:2971
HP:0031704	Abnormal ear physiology	51099	ABHD5	OMIM:275630
HP:0031704	Abnormal ear physiology	51099	ABHD5	ORPHA:98907
HP:0031704	Abnormal ear physiology	4125	MAN2B1	ORPHA:309282
HP:0031704	Abnormal ear physiology	4125	MAN2B1	OMIM:248500
HP:0031704	Abnormal ear physiology	197131	UBR1	OMIM:243800
HP:0031704	Abnormal ear physiology	197131	UBR1	ORPHA:2315
HP:0031704	Abnormal ear physiology	23498	HAAO	OMIM:617660
HP:0031704	Abnormal ear physiology	83959	SLC4A11	ORPHA:293603
HP:0031704	Abnormal ear physiology	83959	SLC4A11	ORPHA:1490
HP:0031704	Abnormal ear physiology	83959	SLC4A11	OMIM:217400
HP:0031704	Abnormal ear physiology	9578	CDC42BPB	OMIM:619841
HP:0031704	Abnormal ear physiology	396	ARHGDIA	OMIM:615244
HP:0031704	Abnormal ear physiology	1841	DTYMK	OMIM:619847
HP:0031704	Abnormal ear physiology	166378	AFG2A	OMIM:616577
HP:0031704	Abnormal ear physiology	166378	AFG2A	ORPHA:457351
HP:0031704	Abnormal ear physiology	84197	POMK	OMIM:615249
HP:0031704	Abnormal ear physiology	24142	NAA80	OMIM:620830
HP:0031704	Abnormal ear physiology	81846	SBF2	OMIM:604563
HP:0031704	Abnormal ear physiology	81846	SBF2	ORPHA:99956
HP:0031704	Abnormal ear physiology	4646	MYO6	OMIM:607821
HP:0031704	Abnormal ear physiology	4646	MYO6	OMIM:606346
HP:0031704	Abnormal ear physiology	3190	HNRNPK	OMIM:616580
HP:0031704	Abnormal ear physiology	3190	HNRNPK	ORPHA:453504
HP:0031704	Abnormal ear physiology	3190	HNRNPK	ORPHA:352665
HP:0031704	Abnormal ear physiology	317662	FAM149B1	OMIM:618763
HP:0031704	Abnormal ear physiology	2671	GFER	OMIM:613076
HP:0031704	Abnormal ear physiology	64834	ELOVL1	OMIM:618527
HP:0031704	Abnormal ear physiology	79029	AFG2B	OMIM:619615
HP:0031704	Abnormal ear physiology	85465	SELENOI	OMIM:618768
HP:0031704	Abnormal ear physiology	5191	PEX7	OMIM:215100
HP:0031704	Abnormal ear physiology	5191	PEX7	ORPHA:773
HP:0031704	Abnormal ear physiology	5191	PEX7	OMIM:614879
HP:0031704	Abnormal ear physiology	5191	PEX7	OMIM:266500
HP:0031704	Abnormal ear physiology	4566	MT-TK	OMIM:545000
HP:0031704	Abnormal ear physiology	4566	MT-TK	ORPHA:551
HP:0031704	Abnormal ear physiology	4566	MT-TK	ORPHA:255210
HP:0031704	Abnormal ear physiology	4566	MT-TK	ORPHA:1349
HP:0031704	Abnormal ear physiology	4565	MT-TI	OMIM:545000
HP:0031704	Abnormal ear physiology	4571	MT-TP	OMIM:545000
HP:0031704	Abnormal ear physiology	4571	MT-TP	ORPHA:551
HP:0031704	Abnormal ear physiology	4558	MT-TF	OMIM:545000
HP:0031704	Abnormal ear physiology	4558	MT-TF	ORPHA:551
HP:0031704	Abnormal ear physiology	4558	MT-TF	ORPHA:550
HP:0031704	Abnormal ear physiology	23327	NEDD4L	OMIM:617201
HP:0031704	Abnormal ear physiology	1428	CRYM	OMIM:616357
HP:0031704	Abnormal ear physiology	28514	DLL1	ORPHA:93926
HP:0031704	Abnormal ear physiology	28514	DLL1	ORPHA:93924
HP:0031704	Abnormal ear physiology	28514	DLL1	ORPHA:93925
HP:0031704	Abnormal ear physiology	28514	DLL1	ORPHA:220386
HP:0031704	Abnormal ear physiology	2253	FGF8	ORPHA:93926
HP:0031704	Abnormal ear physiology	2253	FGF8	ORPHA:93924
HP:0031704	Abnormal ear physiology	2253	FGF8	ORPHA:93925
HP:0031704	Abnormal ear physiology	2253	FGF8	ORPHA:220386
HP:0031704	Abnormal ear physiology	2253	FGF8	ORPHA:478
HP:0031704	Abnormal ear physiology	2253	FGF8	OMIM:612702
HP:0031704	Abnormal ear physiology	6496	SIX3	ORPHA:93926
HP:0031704	Abnormal ear physiology	6496	SIX3	ORPHA:93924
HP:0031704	Abnormal ear physiology	6496	SIX3	ORPHA:93925
HP:0031704	Abnormal ear physiology	6496	SIX3	ORPHA:220386
HP:0031704	Abnormal ear physiology	7050	TGIF1	ORPHA:93926
HP:0031704	Abnormal ear physiology	7050	TGIF1	ORPHA:93924
HP:0031704	Abnormal ear physiology	7050	TGIF1	ORPHA:93925
HP:0031704	Abnormal ear physiology	7050	TGIF1	ORPHA:220386
HP:0031704	Abnormal ear physiology	4838	NODAL	ORPHA:93926
HP:0031704	Abnormal ear physiology	4838	NODAL	ORPHA:93924
HP:0031704	Abnormal ear physiology	4838	NODAL	ORPHA:93925
HP:0031704	Abnormal ear physiology	4838	NODAL	ORPHA:220386
HP:0031704	Abnormal ear physiology	6469	SHH	ORPHA:93926
HP:0031704	Abnormal ear physiology	6469	SHH	ORPHA:93924
HP:0031704	Abnormal ear physiology	6469	SHH	ORPHA:93925
HP:0031704	Abnormal ear physiology	6469	SHH	ORPHA:220386
HP:0031704	Abnormal ear physiology	7546	ZIC2	ORPHA:93926
HP:0031704	Abnormal ear physiology	7546	ZIC2	ORPHA:93924
HP:0031704	Abnormal ear physiology	7546	ZIC2	ORPHA:93925
HP:0031704	Abnormal ear physiology	7546	ZIC2	ORPHA:220386
HP:0031704	Abnormal ear physiology	6491	STIL	ORPHA:93926
HP:0031704	Abnormal ear physiology	6491	STIL	ORPHA:93924
HP:0031704	Abnormal ear physiology	6491	STIL	ORPHA:93925
HP:0031704	Abnormal ear physiology	6491	STIL	ORPHA:220386
HP:0031704	Abnormal ear physiology	2619	GAS1	ORPHA:93926
HP:0031704	Abnormal ear physiology	2619	GAS1	ORPHA:93924
HP:0031704	Abnormal ear physiology	2619	GAS1	ORPHA:93925
HP:0031704	Abnormal ear physiology	2619	GAS1	ORPHA:220386
HP:0031704	Abnormal ear physiology	84976	DISP1	ORPHA:93926
HP:0031704	Abnormal ear physiology	84976	DISP1	ORPHA:93924
HP:0031704	Abnormal ear physiology	84976	DISP1	ORPHA:93925
HP:0031704	Abnormal ear physiology	84976	DISP1	ORPHA:220386
HP:0031704	Abnormal ear physiology	2736	GLI2	ORPHA:93926
HP:0031704	Abnormal ear physiology	2736	GLI2	ORPHA:93924
HP:0031704	Abnormal ear physiology	2736	GLI2	ORPHA:93925
HP:0031704	Abnormal ear physiology	2736	GLI2	ORPHA:220386
HP:0031704	Abnormal ear physiology	8928	FOXH1	ORPHA:93926
HP:0031704	Abnormal ear physiology	8928	FOXH1	ORPHA:93924
HP:0031704	Abnormal ear physiology	8928	FOXH1	ORPHA:93925
HP:0031704	Abnormal ear physiology	8928	FOXH1	ORPHA:220386
HP:0031704	Abnormal ear physiology	6997	CRIPTO	ORPHA:93926
HP:0031704	Abnormal ear physiology	6997	CRIPTO	ORPHA:93924
HP:0031704	Abnormal ear physiology	6997	CRIPTO	ORPHA:93925
HP:0031704	Abnormal ear physiology	6997	CRIPTO	ORPHA:220386
HP:0031704	Abnormal ear physiology	5727	PTCH1	ORPHA:93926
HP:0031704	Abnormal ear physiology	5727	PTCH1	ORPHA:93924
HP:0031704	Abnormal ear physiology	5727	PTCH1	ORPHA:93925
HP:0031704	Abnormal ear physiology	5727	PTCH1	ORPHA:220386
HP:0031704	Abnormal ear physiology	50937	CDON	ORPHA:93926
HP:0031704	Abnormal ear physiology	50937	CDON	ORPHA:93924
HP:0031704	Abnormal ear physiology	50937	CDON	ORPHA:93925
HP:0031704	Abnormal ear physiology	50937	CDON	ORPHA:220386
HP:0031704	Abnormal ear physiology	11193	WBP4	OMIM:620852
HP:0031704	Abnormal ear physiology	23007	PLCH1	ORPHA:93925
HP:0031704	Abnormal ear physiology	4247	MGAT2	OMIM:212066
HP:0031704	Abnormal ear physiology	1187	CLCNKA	OMIM:613090
HP:0031704	Abnormal ear physiology	23126	POGZ	OMIM:616364
HP:0031704	Abnormal ear physiology	23126	POGZ	ORPHA:468678
HP:0031704	Abnormal ear physiology	5357	PLS1	OMIM:618787
HP:0031704	Abnormal ear physiology	5590	PRKCZ	ORPHA:1606
HP:0031704	Abnormal ear physiology	2563	GABRD	ORPHA:1606
HP:0031704	Abnormal ear physiology	8510	MMP23B	ORPHA:1606
HP:0031704	Abnormal ear physiology	7798	LUZP1	ORPHA:1606
HP:0031704	Abnormal ear physiology	6497	SKI	ORPHA:1606
HP:0031704	Abnormal ear physiology	10630	PDPN	ORPHA:1606
HP:0031704	Abnormal ear physiology	3339	HSPG2	ORPHA:1606
HP:0031704	Abnormal ear physiology	10277	UBE4B	ORPHA:1606
HP:0031704	Abnormal ear physiology	8514	KCNAB2	ORPHA:1606
HP:0031704	Abnormal ear physiology	54897	CASZ1	ORPHA:1606
HP:0031704	Abnormal ear physiology	3766	KCNJ10	ORPHA:199343
HP:0031704	Abnormal ear physiology	3766	KCNJ10	OMIM:600791
HP:0031704	Abnormal ear physiology	3766	KCNJ10	OMIM:612780
HP:0031704	Abnormal ear physiology	3766	KCNJ10	ORPHA:705
HP:0031704	Abnormal ear physiology	124590	USH1G	OMIM:606943
HP:0031704	Abnormal ear physiology	124590	USH1G	ORPHA:231169
HP:0031704	Abnormal ear physiology	51102	MECR	OMIM:620629
HP:0031704	Abnormal ear physiology	2620	GAS2	OMIM:620877
HP:0031704	Abnormal ear physiology	3773	KCNJ16	OMIM:619406
HP:0031704	Abnormal ear physiology	1758	DMP1	ORPHA:289176
HP:0031704	Abnormal ear physiology	1758	DMP1	OMIM:241520
HP:0031704	Abnormal ear physiology	125988	MICOS13	OMIM:618329
HP:0031704	Abnormal ear physiology	6240	RRM1	OMIM:620647
HP:0031704	Abnormal ear physiology	84131	CEP78	OMIM:617236
HP:0031704	Abnormal ear physiology	84131	CEP78	ORPHA:231183
HP:0031704	Abnormal ear physiology	25970	SH2B1	ORPHA:261197
HP:0031704	Abnormal ear physiology	171546	SPTSSA	OMIM:620416
HP:0031704	Abnormal ear physiology	171546	SPTSSA	OMIM:620417
HP:0031704	Abnormal ear physiology	27429	HTRA2	OMIM:617248
HP:0031704	Abnormal ear physiology	7873	MANF	OMIM:620651
HP:0031704	Abnormal ear physiology	4001	LMNB1	ORPHA:99027
HP:0031704	Abnormal ear physiology	389827	MYMK	OMIM:254940
HP:0031704	Abnormal ear physiology	64132	XYLT2	OMIM:605822
HP:0031704	Abnormal ear physiology	4549	MT-RNR1	ORPHA:551
HP:0031704	Abnormal ear physiology	4574	MT-TS1	ORPHA:551
HP:0031704	Abnormal ear physiology	4574	MT-TS1	ORPHA:550
HP:0031704	Abnormal ear physiology	4574	MT-TS1	OMIM:220110
HP:0031704	Abnormal ear physiology	4574	MT-TS1	ORPHA:2202
HP:0031704	Abnormal ear physiology	4575	MT-TS2	ORPHA:551
HP:0031704	Abnormal ear physiology	4575	MT-TS2	ORPHA:550
HP:0031704	Abnormal ear physiology	4575	MT-TS2	ORPHA:231183
HP:0031704	Abnormal ear physiology	4572	MT-TQ	ORPHA:551
HP:0031704	Abnormal ear physiology	4572	MT-TQ	ORPHA:550
HP:0031704	Abnormal ear physiology	4540	MT-ND5	ORPHA:551
HP:0031704	Abnormal ear physiology	4540	MT-ND5	ORPHA:550
HP:0031704	Abnormal ear physiology	4540	MT-ND5	ORPHA:255210
HP:0031704	Abnormal ear physiology	4564	MT-TH	ORPHA:551
HP:0031704	Abnormal ear physiology	4564	MT-TH	ORPHA:550
HP:0031704	Abnormal ear physiology	3479	IGF1	ORPHA:73272
HP:0031704	Abnormal ear physiology	3479	IGF1	OMIM:608747
HP:0031704	Abnormal ear physiology	9361	LONP1	OMIM:600373
HP:0031704	Abnormal ear physiology	9361	LONP1	ORPHA:1458
HP:0031704	Abnormal ear physiology	4512	MT-CO1	ORPHA:550
HP:0031704	Abnormal ear physiology	4513	MT-CO2	ORPHA:550
HP:0031704	Abnormal ear physiology	4514	MT-CO3	ORPHA:550
HP:0031704	Abnormal ear physiology	4578	MT-TW	ORPHA:550
HP:0031704	Abnormal ear physiology	4578	MT-TW	ORPHA:255210
HP:0031704	Abnormal ear physiology	4541	MT-ND6	ORPHA:550
HP:0031704	Abnormal ear physiology	4541	MT-ND6	ORPHA:255210
HP:0031704	Abnormal ear physiology	4535	MT-ND1	ORPHA:550
HP:0031704	Abnormal ear physiology	4535	MT-ND1	ORPHA:2609
HP:0031704	Abnormal ear physiology	4535	MT-ND1	ORPHA:255210
HP:0031704	Abnormal ear physiology	4538	MT-ND4	ORPHA:550
HP:0031704	Abnormal ear physiology	4538	MT-ND4	ORPHA:255210
HP:0031704	Abnormal ear physiology	92840	REEP6	ORPHA:791
HP:0031704	Abnormal ear physiology	6094	ROM1	ORPHA:791
HP:0031704	Abnormal ear physiology	6017	RLBP1	ORPHA:791
HP:0031704	Abnormal ear physiology	7401	CLRN1	ORPHA:791
HP:0031704	Abnormal ear physiology	7401	CLRN1	OMIM:276902
HP:0031704	Abnormal ear physiology	7401	CLRN1	ORPHA:231183
HP:0031704	Abnormal ear physiology	24	ABCA4	ORPHA:791
HP:0031704	Abnormal ear physiology	130557	ZNF513	ORPHA:791
HP:0031704	Abnormal ear physiology	92211	CDHR1	ORPHA:791
HP:0031704	Abnormal ear physiology	23568	ARL2BP	ORPHA:791
HP:0031704	Abnormal ear physiology	54806	AHI1	ORPHA:791
HP:0031704	Abnormal ear physiology	6101	RP1	ORPHA:791
HP:0031704	Abnormal ear physiology	3419	IDH3A	ORPHA:791
HP:0031704	Abnormal ear physiology	4751	NEK2	ORPHA:791
HP:0031704	Abnormal ear physiology	346007	EYS	ORPHA:791
HP:0031704	Abnormal ear physiology	8100	IFT88	ORPHA:791
HP:0031704	Abnormal ear physiology	23020	SNRNP200	ORPHA:791
HP:0031704	Abnormal ear physiology	762	CA4	ORPHA:791
HP:0031704	Abnormal ear physiology	196	AHR	ORPHA:791
HP:0031704	Abnormal ear physiology	5148	PDE6G	ORPHA:791
HP:0031704	Abnormal ear physiology	26121	PRPF31	ORPHA:791
HP:0031704	Abnormal ear physiology	4117	MAK	ORPHA:791
HP:0031704	Abnormal ear physiology	25794	FSCN2	ORPHA:791
HP:0031704	Abnormal ear physiology	375298	CERKL	ORPHA:791
HP:0031704	Abnormal ear physiology	3420	IDH3B	ORPHA:791
HP:0031704	Abnormal ear physiology	57670	KIAA1549	ORPHA:791
HP:0031704	Abnormal ear physiology	7275	TUB	ORPHA:791
HP:0031704	Abnormal ear physiology	24148	PRPF6	ORPHA:791
HP:0031704	Abnormal ear physiology	10461	MERTK	ORPHA:791
HP:0031704	Abnormal ear physiology	57709	SLC7A14	ORPHA:791
HP:0031704	Abnormal ear physiology	768206	PRCD	ORPHA:791
HP:0031704	Abnormal ear physiology	7399	USH2A	ORPHA:791
HP:0031704	Abnormal ear physiology	7399	USH2A	ORPHA:231178
HP:0031704	Abnormal ear physiology	23370	ARHGEF18	ORPHA:791
HP:0031704	Abnormal ear physiology	5949	RBP3	ORPHA:791
HP:0031704	Abnormal ear physiology	6010	RHO	ORPHA:791
HP:0031704	Abnormal ear physiology	6100	RP9	ORPHA:791
HP:0031704	Abnormal ear physiology	10002	NR2E3	ORPHA:791
HP:0031704	Abnormal ear physiology	84140	FAM161A	ORPHA:791
HP:0031704	Abnormal ear physiology	55624	POMGNT1	ORPHA:791
HP:0031704	Abnormal ear physiology	403	ARL3	ORPHA:791
HP:0031704	Abnormal ear physiology	5145	PDE6A	ORPHA:791
HP:0031704	Abnormal ear physiology	10210	TOPORS	ORPHA:791
HP:0031704	Abnormal ear physiology	8842	PROM1	ORPHA:791
HP:0031704	Abnormal ear physiology	9128	PRPF4	ORPHA:791
HP:0031704	Abnormal ear physiology	50939	IMPG2	ORPHA:791
HP:0031704	Abnormal ear physiology	57545	CC2D2A	ORPHA:791
HP:0031704	Abnormal ear physiology	2979	GUCA1B	ORPHA:791
HP:0031704	Abnormal ear physiology	1259	CNGA1	ORPHA:791
HP:0031704	Abnormal ear physiology	1258	CNGB1	ORPHA:791
HP:0031704	Abnormal ear physiology	60509	AGBL5	ORPHA:791
HP:0031704	Abnormal ear physiology	5961	PRPH2	ORPHA:791
HP:0031704	Abnormal ear physiology	388939	PCARE	ORPHA:791
HP:0031704	Abnormal ear physiology	7439	BEST1	ORPHA:791
HP:0031704	Abnormal ear physiology	9785	DHX38	ORPHA:791
HP:0031704	Abnormal ear physiology	5995	RGR	ORPHA:791
HP:0031704	Abnormal ear physiology	9129	PRPF3	ORPHA:791
HP:0031704	Abnormal ear physiology	55975	KLHL7	ORPHA:791
HP:0031704	Abnormal ear physiology	3617	IMPG1	ORPHA:791
HP:0031704	Abnormal ear physiology	94137	RP1L1	ORPHA:791
HP:0031704	Abnormal ear physiology	5158	PDE6B	ORPHA:791
HP:0031704	Abnormal ear physiology	6102	RP2	ORPHA:791
HP:0031704	Abnormal ear physiology	55857	KIZ	ORPHA:791
HP:0031704	Abnormal ear physiology	64218	SEMA4A	ORPHA:791
HP:0031704	Abnormal ear physiology	4901	NRL	ORPHA:791
HP:0031704	Abnormal ear physiology	10594	PRPF8	ORPHA:791
HP:0031704	Abnormal ear physiology	6295	SAG	ORPHA:791
HP:0031704	Abnormal ear physiology	79947	DHDDS	ORPHA:791
HP:0031704	Abnormal ear physiology	79947	DHDDS	OMIM:613861
HP:0031704	Abnormal ear physiology	54517	PUS7	OMIM:618342
HP:0031704	Abnormal ear physiology	5551	PRF1	ORPHA:540
HP:0031704	Abnormal ear physiology	8676	STX11	ORPHA:540
HP:0031704	Abnormal ear physiology	201294	UNC13D	ORPHA:540
HP:0031704	Abnormal ear physiology	6813	STXBP2	ORPHA:540
HP:0031704	Abnormal ear physiology	55182	RNF220	OMIM:619688
HP:0031704	Abnormal ear physiology	79158	GNPTAB	ORPHA:576
HP:0031704	Abnormal ear physiology	79158	GNPTAB	ORPHA:423461
HP:0031704	Abnormal ear physiology	7007	TECTA	OMIM:603629
HP:0031704	Abnormal ear physiology	7007	TECTA	OMIM:601543
HP:0031704	Abnormal ear physiology	537	ATP6AP1	OMIM:300972
HP:0031704	Abnormal ear physiology	7922	SLC39A7	OMIM:619693
HP:0031704	Abnormal ear physiology	3376	IARS1	ORPHA:541423
HP:0031704	Abnormal ear physiology	3376	IARS1	OMIM:617093
HP:0031704	Abnormal ear physiology	4647	MYO7A	OMIM:276900
HP:0031704	Abnormal ear physiology	4647	MYO7A	OMIM:600060
HP:0031704	Abnormal ear physiology	4647	MYO7A	ORPHA:231178
HP:0031704	Abnormal ear physiology	4647	MYO7A	ORPHA:231169
HP:0031704	Abnormal ear physiology	10083	USH1C	OMIM:276900
HP:0031704	Abnormal ear physiology	10083	USH1C	OMIM:602092
HP:0031704	Abnormal ear physiology	10083	USH1C	ORPHA:231169
HP:0031704	Abnormal ear physiology	4627	MYH9	OMIM:155100
HP:0031704	Abnormal ear physiology	4627	MYH9	ORPHA:182050
HP:0031704	Abnormal ear physiology	5611	DNAJC3	OMIM:616192
HP:0031704	Abnormal ear physiology	7809	BSND	OMIM:602522
HP:0031704	Abnormal ear physiology	2064	ERBB2	OMIM:619465
HP:0031704	Abnormal ear physiology	11342	RNF13	OMIM:618379
HP:0031704	Abnormal ear physiology	11342	RNF13	ORPHA:544503
HP:0031704	Abnormal ear physiology	9294	S1PR2	OMIM:610419
HP:0031704	Abnormal ear physiology	5137	PDE1C	OMIM:618140
HP:0031704	Abnormal ear physiology	57187	THOC2	OMIM:300957
HP:0031704	Abnormal ear physiology	100996717	NOTCH2NLC	OMIM:619473
HP:0031704	Abnormal ear physiology	22901	ARSG	OMIM:618144
HP:0031704	Abnormal ear physiology	22901	ARSG	ORPHA:231183
HP:0031704	Abnormal ear physiology	84196	USP48	OMIM:620227
HP:0031704	Abnormal ear physiology	493856	CISD2	OMIM:604928
HP:0031704	Abnormal ear physiology	493856	CISD2	ORPHA:3463
HP:0031704	Abnormal ear physiology	9373	PLAA	ORPHA:521426
HP:0031704	Abnormal ear physiology	100127206	MINAR2	OMIM:620238
HP:0031704	Abnormal ear physiology	91662	NLRP12	OMIM:611762
HP:0031704	Abnormal ear physiology	55717	WDR11	OMIM:620237
HP:0031704	Abnormal ear physiology	55717	WDR11	ORPHA:478
HP:0031704	Abnormal ear physiology	93587	TRMT10A	ORPHA:391408
HP:0031704	Abnormal ear physiology	7169	TPM2	OMIM:108120
HP:0031704	Abnormal ear physiology	2299	FOXI1	OMIM:600791
HP:0031704	Abnormal ear physiology	2299	FOXI1	ORPHA:705
HP:0031704	Abnormal ear physiology	5172	SLC26A4	OMIM:600791
HP:0031704	Abnormal ear physiology	5172	SLC26A4	ORPHA:705
HP:0031704	Abnormal ear physiology	5264	PHYH	ORPHA:773
HP:0031704	Abnormal ear physiology	5264	PHYH	OMIM:266500
HP:0031704	Abnormal ear physiology	1716	DGUOK	OMIM:617070
HP:0031704	Abnormal ear physiology	2629	GBA1	ORPHA:2072
HP:0031704	Abnormal ear physiology	54936	ADPRS	OMIM:618170
HP:0031704	Abnormal ear physiology	4860	PNP	ORPHA:760
HP:0031704	Abnormal ear physiology	1678	TIMM8A	ORPHA:52368
HP:0031704	Abnormal ear physiology	375056	MIA3	OMIM:619269
HP:0031704	Abnormal ear physiology	8022	LHX3	ORPHA:231720
HP:0031704	Abnormal ear physiology	8022	LHX3	ORPHA:226307
HP:0031704	Abnormal ear physiology	8022	LHX3	OMIM:221750
HP:0031704	Abnormal ear physiology	6658	SOX3	ORPHA:3157
HP:0031704	Abnormal ear physiology	9915	ARNT2	ORPHA:3157
HP:0031704	Abnormal ear physiology	8820	HESX1	ORPHA:3157
HP:0031704	Abnormal ear physiology	8820	HESX1	ORPHA:226307
HP:0031704	Abnormal ear physiology	8820	HESX1	ORPHA:478
HP:0031704	Abnormal ear physiology	5015	OTX2	ORPHA:3157
HP:0031704	Abnormal ear physiology	7355	SLC35A2	ORPHA:356961
HP:0031704	Abnormal ear physiology	283310	OTOGL	OMIM:614944
HP:0031704	Abnormal ear physiology	340990	OTOG	OMIM:614945
HP:0031704	Abnormal ear physiology	79581	SLC52A2	OMIM:614707
HP:0031704	Abnormal ear physiology	8200	GDF5	ORPHA:3250
HP:0031704	Abnormal ear physiology	146183	OTOA	OMIM:607039
HP:0031704	Abnormal ear physiology	613	BCR	ORPHA:261330
HP:0031704	Abnormal ear physiology	1399	CRKL	ORPHA:261330
HP:0031704	Abnormal ear physiology	5594	MAPK1	ORPHA:261330
HP:0031704	Abnormal ear physiology	63916	ELMO2	ORPHA:3019
HP:0031704	Abnormal ear physiology	375611	SLC26A5	OMIM:613865
HP:0031704	Abnormal ear physiology	5979	RET	ORPHA:99803
HP:0031704	Abnormal ear physiology	429	ASCL1	ORPHA:99803
HP:0031704	Abnormal ear physiology	8929	PHOX2B	ORPHA:99803
HP:0031704	Abnormal ear physiology	525	ATP6V1B1	OMIM:267300
HP:0031704	Abnormal ear physiology	645104	CLRN2	OMIM:619174
HP:0031704	Abnormal ear physiology	2483	FRG1	OMIM:158900
HP:0031704	Abnormal ear physiology	2483	FRG1	ORPHA:269
HP:0031704	Abnormal ear physiology	7555	CNBP	ORPHA:606
HP:0031704	Abnormal ear physiology	29967	LRP12	OMIM:164310
HP:0031704	Abnormal ear physiology	546	ATRX	ORPHA:847
HP:0031704	Abnormal ear physiology	546	ATRX	OMIM:309580
HP:0031704	Abnormal ear physiology	546	ATRX	OMIM:301040
HP:0031704	Abnormal ear physiology	54675	CRLS1	OMIM:620167
HP:0031704	Abnormal ear physiology	57531	HACE1	ORPHA:464282
HP:0031704	Abnormal ear physiology	57531	HACE1	OMIM:616756
HP:0031704	Abnormal ear physiology	9750	RIPOR2	OMIM:607017
HP:0031704	Abnormal ear physiology	9839	ZEB2	ORPHA:261552
HP:0031704	Abnormal ear physiology	9839	ZEB2	ORPHA:261537
HP:0031704	Abnormal ear physiology	7156	TOP3A	OMIM:618098
HP:0031704	Abnormal ear physiology	6999	TDO2	OMIM:600627
HP:0031704	Abnormal ear physiology	1954	MEGF8	OMIM:614976
HP:0031704	Abnormal ear physiology	1729	DIAPH1	OMIM:124900
HP:0031704	Abnormal ear physiology	84300	UQCC2	OMIM:615824
HP:0031704	Abnormal ear physiology	526	ATP6V1B2	ORPHA:3473
HP:0031704	Abnormal ear physiology	526	ATP6V1B2	OMIM:124480
HP:0031704	Abnormal ear physiology	526	ATP6V1B2	OMIM:616455
HP:0031704	Abnormal ear physiology	3782	KCNN3	ORPHA:3473
HP:0031704	Abnormal ear physiology	53834	FGFRL1	OMIM:194190
HP:0031704	Abnormal ear physiology	84947	SERAC1	OMIM:614739
HP:0031704	Abnormal ear physiology	54496	PRMT7	ORPHA:464288
HP:0031704	Abnormal ear physiology	6234	RPS28	OMIM:606164
HP:0031704	Abnormal ear physiology	9653	HS2ST1	OMIM:619194
HP:0031704	Abnormal ear physiology	5626	PROP1	ORPHA:226307
HP:0031704	Abnormal ear physiology	89884	LHX4	ORPHA:226307
HP:0031704	Abnormal ear physiology	5449	POU1F1	ORPHA:226307
HP:0031704	Abnormal ear physiology	10908	PNPLA6	ORPHA:2377
HP:0031704	Abnormal ear physiology	3211	HOXB1	OMIM:614744
HP:0031704	Abnormal ear physiology	2122	MECOM	ORPHA:71289
HP:0031704	Abnormal ear physiology	2122	MECOM	OMIM:616738
HP:0031704	Abnormal ear physiology	3207	HOXA11	ORPHA:71289
HP:0031704	Abnormal ear physiology	3207	HOXA11	OMIM:605432
HP:0031704	Abnormal ear physiology	90665	TBL1Y	OMIM:400047
HP:0031704	Abnormal ear physiology	2103	ESRRB	OMIM:608565
HP:0031704	Abnormal ear physiology	427	ASAH1	ORPHA:2590
HP:0031704	Abnormal ear physiology	286676	ILDR1	OMIM:609646
HP:0031704	Abnormal ear physiology	9455	HOMER2	OMIM:616707
HP:0031704	Abnormal ear physiology	4233	MET	OMIM:616705
HP:0031704	Abnormal ear physiology	4556	MT-TE	ORPHA:2596
HP:0031704	Abnormal ear physiology	147372	CCBE1	OMIM:235510
HP:0031704	Abnormal ear physiology	5832	ALDH18A1	ORPHA:447753
HP:0031704	Abnormal ear physiology	57165	GJC2	OMIM:613206
HP:0031704	Abnormal ear physiology	57165	GJC2	ORPHA:320401
HP:0031704	Abnormal ear physiology	57724	EPG5	ORPHA:1493
HP:0031704	Abnormal ear physiology	57724	EPG5	OMIM:242840
HP:0031704	Abnormal ear physiology	3371	TNC	OMIM:615629
HP:0031704	Abnormal ear physiology	1288	COL4A6	ORPHA:1018
HP:0031704	Abnormal ear physiology	1287	COL4A5	ORPHA:1018
HP:0031704	Abnormal ear physiology	1287	COL4A5	OMIM:301050
HP:0031704	Abnormal ear physiology	91949	COG7	OMIM:608779
HP:0031704	Abnormal ear physiology	124997	WDR81	OMIM:610185
HP:0031704	Abnormal ear physiology	132	ADK	OMIM:614300
HP:0031704	Abnormal ear physiology	79848	CSPP1	OMIM:615636
HP:0031704	Abnormal ear physiology	8943	AP3D1	ORPHA:1000
HP:0031704	Abnormal ear physiology	8763	CD164	OMIM:616969
HP:0031704	Abnormal ear physiology	1776	DNASE1L3	ORPHA:36412
HP:0031704	Abnormal ear physiology	4010	LMX1B	OMIM:161200
HP:0031704	Abnormal ear physiology	7317	UBA1	OMIM:301054
HP:0031704	Abnormal ear physiology	2782	GNB1	OMIM:616973
HP:0031704	Abnormal ear physiology	169792	GLIS3	OMIM:610199
HP:0031704	Abnormal ear physiology	50	ACO2	OMIM:614559
HP:0031704	Abnormal ear physiology	27235	COQ2	OMIM:607426
HP:0031704	Abnormal ear physiology	10560	SLC19A2	OMIM:249270
HP:0031704	Abnormal ear physiology	10560	SLC19A2	ORPHA:49827
HP:0031704	Abnormal ear physiology	8985	PLOD3	OMIM:612394
HP:0031704	Abnormal ear physiology	4854	NOTCH3	ORPHA:2789
HP:0031704	Abnormal ear physiology	23312	DMXL2	OMIM:617605
HP:0031704	Abnormal ear physiology	23312	DMXL2	OMIM:618663
HP:0031704	Abnormal ear physiology	4976	OPA1	ORPHA:1215
HP:0031704	Abnormal ear physiology	4976	OPA1	ORPHA:98673
HP:0031704	Abnormal ear physiology	4976	OPA1	OMIM:616896
HP:0031704	Abnormal ear physiology	23476	BRD4	ORPHA:199
HP:0031704	Abnormal ear physiology	8243	SMC1A	ORPHA:199
HP:0031704	Abnormal ear physiology	8243	SMC1A	ORPHA:220386
HP:0031704	Abnormal ear physiology	6878	TAF6	ORPHA:199
HP:0031704	Abnormal ear physiology	5885	RAD21	ORPHA:199
HP:0031704	Abnormal ear physiology	157680	VPS13B	ORPHA:193
HP:0031704	Abnormal ear physiology	1213	CLTC	OMIM:617854
HP:0031704	Abnormal ear physiology	51520	LARS1	OMIM:615438
HP:0031704	Abnormal ear physiology	1890	TYMP	OMIM:603041
HP:0031704	Abnormal ear physiology	1890	TYMP	ORPHA:298
HP:0031704	Abnormal ear physiology	60528	ELAC2	OMIM:615440
HP:0031704	Abnormal ear physiology	28957	MRPS28	OMIM:618958
HP:0031704	Abnormal ear physiology	2625	GATA3	OMIM:146255
HP:0031704	Abnormal ear physiology	60482	SLC5A7	ORPHA:98914
HP:0031704	Abnormal ear physiology	4649	MYO9A	ORPHA:98914
HP:0031704	Abnormal ear physiology	1305	COL13A1	ORPHA:98914
HP:0031704	Abnormal ear physiology	1103	CHAT	ORPHA:98914
HP:0031704	Abnormal ear physiology	6576	SLC25A1	ORPHA:98914
HP:0031704	Abnormal ear physiology	6843	VAMP1	ORPHA:98914
HP:0031704	Abnormal ear physiology	375790	AGRN	ORPHA:98914
HP:0031704	Abnormal ear physiology	6572	SLC18A3	ORPHA:98914
HP:0031704	Abnormal ear physiology	6616	SNAP25	ORPHA:98914
HP:0031704	Abnormal ear physiology	5456	POU3F4	ORPHA:1435
HP:0031704	Abnormal ear physiology	7518	XRCC4	OMIM:616541
HP:0031704	Abnormal ear physiology	4724	NDUFS4	OMIM:252010
HP:0031704	Abnormal ear physiology	4724	NDUFS4	ORPHA:2609
HP:0031704	Abnormal ear physiology	8192	CLPP	OMIM:614129
HP:0031704	Abnormal ear physiology	5879	RAC1	ORPHA:500159
HP:0031704	Abnormal ear physiology	5879	RAC1	OMIM:617751
HP:0031704	Abnormal ear physiology	8777	MPDZ	OMIM:615219
HP:0031704	Abnormal ear physiology	55553	SOX6	OMIM:618971
HP:0031704	Abnormal ear physiology	64221	ROBO3	ORPHA:2744
HP:0031704	Abnormal ear physiology	1630	DCC	ORPHA:2744
HP:0031704	Abnormal ear physiology	1630	DCC	ORPHA:478
HP:0031704	Abnormal ear physiology	16	AARS1	OMIM:613287
HP:0031704	Abnormal ear physiology	1297	COL9A1	OMIM:614134
HP:0031704	Abnormal ear physiology	1297	COL9A1	ORPHA:250984
HP:0031704	Abnormal ear physiology	8449	DHX16	OMIM:618733
HP:0031704	Abnormal ear physiology	4014	LORICRIN	ORPHA:79395
HP:0031704	Abnormal ear physiology	9381	OTOF	OMIM:601071
HP:0031704	Abnormal ear physiology	64699	TMPRSS3	OMIM:601072
HP:0031704	Abnormal ear physiology	25915	NDUFAF3	ORPHA:2609
HP:0031704	Abnormal ear physiology	51103	NDUFAF1	ORPHA:2609
HP:0031704	Abnormal ear physiology	91942	NDUFAF2	ORPHA:2609
HP:0031704	Abnormal ear physiology	51300	TIMMDC1	ORPHA:2609
HP:0031704	Abnormal ear physiology	51300	TIMMDC1	OMIM:618251
HP:0031704	Abnormal ear physiology	4716	NDUFB10	ORPHA:2609
HP:0031704	Abnormal ear physiology	4723	NDUFV1	ORPHA:2609
HP:0031704	Abnormal ear physiology	55572	FOXRED1	ORPHA:2609
HP:0031704	Abnormal ear physiology	284184	NDUFAF8	ORPHA:2609
HP:0031704	Abnormal ear physiology	55863	TMEM126B	ORPHA:2609
HP:0031704	Abnormal ear physiology	4537	MT-ND3	ORPHA:2609
HP:0031704	Abnormal ear physiology	4537	MT-ND3	ORPHA:255210
HP:0031704	Abnormal ear physiology	4729	NDUFV2	ORPHA:2609
HP:0031704	Abnormal ear physiology	4694	NDUFA1	ORPHA:2609
HP:0031704	Abnormal ear physiology	4720	NDUFS2	ORPHA:2609
HP:0031704	Abnormal ear physiology	4726	NDUFS6	ORPHA:2609
HP:0031704	Abnormal ear physiology	4728	NDUFS8	ORPHA:2609
HP:0031704	Abnormal ear physiology	4722	NDUFS3	ORPHA:2609
HP:0031704	Abnormal ear physiology	79133	NDUFAF5	ORPHA:2609
HP:0031704	Abnormal ear physiology	126328	NDUFA11	ORPHA:2609
HP:0031704	Abnormal ear physiology	4709	NDUFB3	ORPHA:2609
HP:0031704	Abnormal ear physiology	80224	NUBPL	ORPHA:2609
HP:0031704	Abnormal ear physiology	374291	NDUFS7	ORPHA:2609
HP:0031704	Abnormal ear physiology	4700	NDUFA6	ORPHA:2609
HP:0031704	Abnormal ear physiology	4536	MT-ND2	ORPHA:2609
HP:0031704	Abnormal ear physiology	4536	MT-ND2	ORPHA:255210
HP:0031704	Abnormal ear physiology	4719	NDUFS1	ORPHA:2609
HP:0031704	Abnormal ear physiology	4715	NDUFB9	ORPHA:2609
HP:0031704	Abnormal ear physiology	29925	GMPPB	OMIM:615350
HP:0031704	Abnormal ear physiology	1947	EFNB1	ORPHA:1520
HP:0031704	Abnormal ear physiology	22947	DUX4L1	ORPHA:269
HP:0031704	Abnormal ear physiology	1789	DNMT3B	ORPHA:269
HP:0031704	Abnormal ear physiology	100288687	DUX4	ORPHA:269
HP:0031704	Abnormal ear physiology	4577	MT-TV	ORPHA:255210
HP:0031704	Abnormal ear physiology	84899	TMTC4	OMIM:620714
HP:0031704	Abnormal ear physiology	128486	FITM2	OMIM:618635
HP:0031704	Abnormal ear physiology	3980	LIG3	ORPHA:298
HP:0031704	Abnormal ear physiology	80153	EDC3	OMIM:616460
HP:0031704	Abnormal ear physiology	1600	DAB1	ORPHA:363710
HP:0031704	Abnormal ear physiology	55870	ASH1L	OMIM:617796
HP:0031704	Abnormal ear physiology	1298	COL9A2	OMIM:614284
HP:0031704	Abnormal ear physiology	1298	COL9A2	ORPHA:250984
HP:0031704	Abnormal ear physiology	9692	PRORP	OMIM:619737
HP:0031704	Abnormal ear physiology	2200	FBN1	ORPHA:2833
HP:0031704	Abnormal ear physiology	10381	TUBB3	ORPHA:300570
HP:0031704	Abnormal ear physiology	55699	IARS2	ORPHA:436174
HP:0031704	Abnormal ear physiology	55699	IARS2	OMIM:616007
HP:0031704	Abnormal ear physiology	23761	PISD	OMIM:618889
HP:0031704	Abnormal ear physiology	83480	PUS3	ORPHA:488627
HP:0031704	Abnormal ear physiology	22884	WDR37	OMIM:618652
HP:0031704	Abnormal ear physiology	388551	CEACAM16	OMIM:618410
HP:0031704	Abnormal ear physiology	388551	CEACAM16	OMIM:614614
HP:0031704	Abnormal ear physiology	84173	ELMOD3	OMIM:619500
HP:0031704	Abnormal ear physiology	26284	ERAL1	OMIM:617565
HP:0031704	Abnormal ear physiology	55012	PPP2R3C	OMIM:618419
HP:0031704	Abnormal ear physiology	8642	DCHS1	OMIM:601390
HP:0031704	Abnormal ear physiology	23262	PPIP5K2	OMIM:618422
HP:0031704	Abnormal ear physiology	1182	CLCN3	OMIM:619512
HP:0031704	Abnormal ear physiology	85301	COL27A1	OMIM:615155
HP:0031704	Abnormal ear physiology	8879	SGPL1	OMIM:617575
HP:0031704	Abnormal ear physiology	9453	GGPS1	OMIM:619518
HP:0031704	Abnormal ear physiology	59335	PRDM12	OMIM:616488
HP:0031704	Abnormal ear physiology	6810	STX4	OMIM:620745
HP:0031704	Abnormal ear physiology	9786	KIAA0586	OMIM:616490
HP:0031704	Abnormal ear physiology	4849	CNOT3	OMIM:618672
HP:0031704	Abnormal ear physiology	9158	FIBP	OMIM:617107
HP:0031704	Abnormal ear physiology	9158	FIBP	ORPHA:500095
HP:0031704	Abnormal ear physiology	7841	MOGS	ORPHA:79330
HP:0031704	Abnormal ear physiology	7841	MOGS	OMIM:606056
HP:0031704	Abnormal ear physiology	51651	PTRH2	OMIM:616263
HP:0031704	Abnormal ear physiology	51651	PTRH2	ORPHA:456312
HP:0031704	Abnormal ear physiology	85365	ALG2	OMIM:607906
HP:0031704	Abnormal ear physiology	79977	GRHL2	OMIM:616029
HP:0031704	Abnormal ear physiology	79977	GRHL2	OMIM:608641
HP:0031704	Abnormal ear physiology	79087	ALG12	ORPHA:79324
HP:0031704	Abnormal ear physiology	79087	ALG12	OMIM:607143
HP:0031704	Abnormal ear physiology	10750	GRAP	OMIM:618456
HP:0031704	Abnormal ear physiology	124976	SPNS2	OMIM:618457
HP:0031704	Abnormal ear physiology	10371	SEMA3A	ORPHA:478
HP:0031704	Abnormal ear physiology	79625	NDNF	ORPHA:478
HP:0031704	Abnormal ear physiology	389549	FEZF1	ORPHA:478
HP:0031704	Abnormal ear physiology	3730	ANOS1	ORPHA:478
HP:0031704	Abnormal ear physiology	285025	CCDC141	ORPHA:478
HP:0031704	Abnormal ear physiology	60675	PROK2	ORPHA:478
HP:0031704	Abnormal ear physiology	6870	TACR3	ORPHA:478
HP:0031704	Abnormal ear physiology	9394	HS6ST1	ORPHA:478
HP:0031704	Abnormal ear physiology	8822	FGF17	ORPHA:478
HP:0031704	Abnormal ear physiology	10456	HAX1	OMIM:610738
HP:0031704	Abnormal ear physiology	53405	CLIC5	OMIM:616042
HP:0031704	Abnormal ear physiology	54892	NCAPG2	OMIM:618460
HP:0031704	Abnormal ear physiology	6091	ROBO1	OMIM:620305
HP:0031704	Abnormal ear physiology	6548	SLC9A1	OMIM:616291
HP:0031704	Abnormal ear physiology	29998	BICRA	OMIM:619325
HP:0031704	Abnormal ear physiology	9342	SNAP29	ORPHA:66631
HP:0031704	Abnormal ear physiology	9342	SNAP29	OMIM:609528
HP:0031704	Abnormal ear physiology	162514	TRPV3	ORPHA:659
HP:0031704	Abnormal ear physiology	64065	PERP	ORPHA:659
HP:0031704	Abnormal ear physiology	165829	GPR156	OMIM:620551
HP:0031704	Abnormal ear physiology	10073	SNUPN	OMIM:620793
HP:0031704	Abnormal ear physiology	93035	PKHD1L1	OMIM:620794
HP:0031704	Abnormal ear physiology	977	CD151	OMIM:609057
HP:0031704	Abnormal ear physiology	79068	FTO	OMIM:612938
HP:0031704	Abnormal ear physiology	10059	DNM1L	ORPHA:98673
HP:0031704	Abnormal ear physiology	124842	TMEM132E	OMIM:618481
HP:0031704	Abnormal ear physiology	57551	TAOK1	OMIM:619575
HP:0031704	Abnormal ear physiology	4141	MARS1	OMIM:620323
HP:0031704	Abnormal ear physiology	161497	STRC	ORPHA:94064
HP:0031704	Abnormal ear physiology	161497	STRC	OMIM:603720
HP:0031704	Abnormal ear physiology	117155	CATSPER2	ORPHA:94064
HP:0031704	Abnormal ear physiology	55814	BDP1	OMIM:618257
HP:0031704	Abnormal ear physiology	8635	RNASET2	OMIM:612951
HP:0031704	Abnormal ear physiology	4990	SIX6	OMIM:206900
HP:0031704	Abnormal ear physiology	2300	FOXL1	OMIM:620576
HP:0031704	Abnormal ear physiology	9791	PTDSS1	OMIM:151050
HP:0031704	Abnormal ear physiology	51095	TRNT1	OMIM:616084
HP:0031704	Abnormal ear physiology	4629	MYH11	OMIM:619351
HP:0031704	Abnormal ear physiology	60684	TRAPPC11	ORPHA:869
HP:0031704	Abnormal ear physiology	8086	AAAS	ORPHA:869
HP:0031704	Abnormal ear physiology	3198	HOXA1	OMIM:601536
HP:0031704	Abnormal ear physiology	51715	RAB23	OMIM:201000
HP:0031704	Abnormal ear physiology	55755	CDK5RAP2	OMIM:604804
HP:0031704	Abnormal ear physiology	9759	HDAC4	OMIM:600430
HP:0031704	Abnormal ear physiology	2624	GATA2	ORPHA:228423
HP:0031704	Abnormal ear physiology	22800	RRAS2	ORPHA:648
HP:0031704	Abnormal ear physiology	867	CBL	ORPHA:648
HP:0031704	Abnormal ear physiology	6016	RIT1	ORPHA:648
HP:0031704	Abnormal ear physiology	6237	RRAS	ORPHA:648
HP:0031704	Abnormal ear physiology	22808	MRAS	ORPHA:648
HP:0031704	Abnormal ear physiology	200734	SPRED2	ORPHA:648
HP:0031704	Abnormal ear physiology	6655	SOS2	ORPHA:648
HP:0031704	Abnormal ear physiology	5922	RASA2	ORPHA:648
HP:0031704	Abnormal ear physiology	83715	ESPN	OMIM:609006
HP:0031704	Abnormal ear physiology	83715	ESPN	ORPHA:231169
HP:0031704	Abnormal ear physiology	23438	HARS2	OMIM:614926
HP:0031704	Abnormal ear physiology	10295	BCKDK	OMIM:614923
HP:0031704	Abnormal ear physiology	84233	TMEM126A	OMIM:612989
HP:0031704	Abnormal ear physiology	8665	EIF3F	OMIM:618295
HP:0031704	Abnormal ear physiology	27183	VPS4A	OMIM:619273
HP:0031704	Abnormal ear physiology	84189	SLITRK6	OMIM:221200
HP:0031704	Abnormal ear physiology	126326	GIPC3	OMIM:601869
HP:0031704	Abnormal ear physiology	4570	MT-TN	OMIM:220110
HP:0031704	Abnormal ear physiology	59341	TRPV4	OMIM:606071
HP:0031704	Abnormal ear physiology	494513	PJVK	OMIM:610220
HP:0031704	Abnormal ear physiology	400916	CHCHD10	OMIM:615911
HP:0031704	Abnormal ear physiology	95	ACY1	ORPHA:137754
HP:0031704	Abnormal ear physiology	95	ACY1	OMIM:609924
HP:0031704	Abnormal ear physiology	10992	SF3B2	OMIM:164210
HP:0031704	Abnormal ear physiology	1299	COL9A3	OMIM:620022
HP:0031704	Abnormal ear physiology	1299	COL9A3	ORPHA:250984
HP:0031704	Abnormal ear physiology	162	AP1B1	OMIM:242150
HP:0031704	Abnormal ear physiology	1352	COX10	OMIM:619046
HP:0031704	Abnormal ear physiology	1353	COX11	OMIM:620275
HP:0031704	Abnormal ear physiology	514	ATP5F1E	ORPHA:254913
HP:0031704	Abnormal ear physiology	513	ATP5F1D	ORPHA:254913
HP:0031704	Abnormal ear physiology	498	ATP5F1A	ORPHA:254913
HP:0031704	Abnormal ear physiology	84833	ATP5MK	ORPHA:254913
HP:0031704	Abnormal ear physiology	91647	ATPAF2	ORPHA:254913
HP:0031704	Abnormal ear physiology	7840	ALMS1	OMIM:203800
HP:0031704	Abnormal ear physiology	7080	NKX2-1	ORPHA:209905
HP:0031704	Abnormal ear physiology	26090	ABHD12	OMIM:612674
HP:0031704	Abnormal ear physiology	5978	REST	OMIM:612431
HP:0031704	Abnormal ear physiology	1174	AP1S1	OMIM:609313
HP:0031704	Abnormal ear physiology	4953	ODC1	OMIM:619075
HP:0031704	Abnormal ear physiology	4953	ODC1	ORPHA:544488
HP:0031704	Abnormal ear physiology	222662	LHFPL5	OMIM:610265
HP:0031704	Abnormal ear physiology	7461	CLIP2	ORPHA:904
HP:0031704	Abnormal ear physiology	84277	DNAJC30	ORPHA:904
HP:0031704	Abnormal ear physiology	8468	FKBP6	ORPHA:904
HP:0031704	Abnormal ear physiology	5982	RFC2	ORPHA:904
HP:0031704	Abnormal ear physiology	2969	GTF2I	ORPHA:904
HP:0031704	Abnormal ear physiology	3984	LIMK1	ORPHA:904
HP:0031704	Abnormal ear physiology	9569	GTF2IRD1	ORPHA:904
HP:0031704	Abnormal ear physiology	155382	VPS37D	ORPHA:904
HP:0031704	Abnormal ear physiology	155368	METTL27	ORPHA:904
HP:0031704	Abnormal ear physiology	114049	BUD23	ORPHA:904
HP:0031704	Abnormal ear physiology	7458	EIF4H	ORPHA:904
HP:0031704	Abnormal ear physiology	84163	GTF2IRD2	ORPHA:904
HP:0031704	Abnormal ear physiology	26608	TBL2	ORPHA:904
HP:0031704	Abnormal ear physiology	653361	NCF1	ORPHA:904
HP:0031704	Abnormal ear physiology	135886	TMEM270	ORPHA:904
HP:0031704	Abnormal ear physiology	9031	BAZ1B	ORPHA:904
HP:0031704	Abnormal ear physiology	2006	ELN	ORPHA:904
HP:0031704	Abnormal ear physiology	2006	ELN	OMIM:194050
HP:0031704	Abnormal ear physiology	1493	CTLA4	ORPHA:900
HP:0031704	Abnormal ear physiology	3115	HLA-DPB1	ORPHA:900
HP:0031704	Abnormal ear physiology	5657	PRTN3	ORPHA:900
HP:0031704	Abnormal ear physiology	3113	HLA-DPA1	ORPHA:900
HP:0031704	Abnormal ear physiology	5159	PDGFRB	OMIM:601812
HP:0031704	Abnormal ear physiology	5591	PRKDC	OMIM:615966
HP:0031704	Abnormal ear physiology	286262	TPRN	OMIM:613307
HP:0031704	Abnormal ear physiology	51085	MLXIPL	OMIM:194050
HP:0031704	Abnormal ear physiology	10430	TMEM147	OMIM:620075
HP:0031704	Abnormal ear physiology	9080	CLDN9	OMIM:619093
HP:0031704	Abnormal ear physiology	9939	RBM8A	ORPHA:3320
HP:0031704	Abnormal ear physiology	92154	MTSS2	OMIM:620086
HP:0031704	Abnormal ear physiology	2703	GJA8	OMIM:612474
HP:0031704	Abnormal ear physiology	2702	GJA5	OMIM:612474
HP:0031704	Abnormal ear physiology	170302	ARX	OMIM:300419
HP:0031704	Abnormal ear physiology	9420	CYP7B1	ORPHA:100986
HP:0031704	Abnormal ear physiology	9420	CYP7B1	OMIM:270800
HP:0031704	Abnormal ear physiology	8556	CDC14A	OMIM:608653
HP:0031704	Abnormal ear physiology	6731	SRP72	OMIM:614675
HP:0031704	Abnormal ear physiology	1750	DLX6	ORPHA:2440
HP:0031704	Abnormal ear physiology	7979	SEM1	ORPHA:2440
HP:0031704	Abnormal ear physiology	8945	BTRC	ORPHA:2440
HP:0031704	Abnormal ear physiology	58513	EPS15L1	ORPHA:2440
HP:0031704	Abnormal ear physiology	6468	FBXW4	ORPHA:2440
HP:0031704	Abnormal ear physiology	7480	WNT10B	ORPHA:2440
HP:0031704	Abnormal ear physiology	51116	MRPS2	OMIM:617950
HP:0031704	Abnormal ear physiology	55033	FKBP14	ORPHA:300179
HP:0031704	Abnormal ear physiology	10265	IRX5	OMIM:611174
HP:0031704	Abnormal ear physiology	405753	DUOXA2	ORPHA:95716
HP:0031704	Abnormal ear physiology	6528	SLC5A5	ORPHA:95716
HP:0031704	Abnormal ear physiology	7038	TG	ORPHA:95716
HP:0031704	Abnormal ear physiology	7173	TPO	ORPHA:95716
HP:0031704	Abnormal ear physiology	389434	IYD	ORPHA:95716
HP:0031704	Abnormal ear physiology	50506	DUOX2	ORPHA:95716
HP:0031704	Abnormal ear physiology	2058	EPRS1	OMIM:617951
HP:0031704	Abnormal ear physiology	27315	PGAP2	OMIM:614207
HP:0031704	Abnormal ear physiology	708	C1QBP	OMIM:617713
HP:0031704	Abnormal ear physiology	128989	TANGO2	ORPHA:480864
HP:0031704	Abnormal ear physiology	128989	TANGO2	OMIM:616878
HP:0031704	Abnormal ear physiology	64423	INF2	OMIM:614455
HP:0031704	Abnormal ear physiology	2584	GALK1	ORPHA:79237
HP:0031704	Abnormal ear physiology	84059	ADGRV1	ORPHA:231178
HP:0031704	Abnormal ear physiology	246213	SLC17A8	OMIM:605583
HP:0031704	Abnormal ear physiology	51776	MAP3K20	OMIM:616890
HP:0031704	Abnormal ear physiology	182	JAG1	OMIM:617992
HP:0031704	Abnormal ear physiology	5116	PCNT	ORPHA:2637
HP:0031704	Abnormal ear physiology	63929	XPNPEP3	OMIM:613159
HP:0031704	Abnormal ear physiology	57731	SPTBN4	OMIM:617519
HP:0031704	Abnormal ear physiology	10518	CIB2	ORPHA:231169
HP:0031704	Abnormal ear physiology	7543	ZFX	OMIM:301118
HP:0031704	Abnormal ear physiology	2582	GALE	OMIM:230350
HP:0031704	Abnormal ear physiology	4519	MT-CYB	OMIM:540000
HP:0031704	Abnormal ear physiology	4511	MT-TC	OMIM:540000
HP:0031704	Abnormal ear physiology	1687	GSDME	OMIM:600994
HP:0031704	Abnormal ear physiology	10205	MPZL2	OMIM:618145
HP:0031704	Abnormal ear physiology	10463	SLC30A9	OMIM:617595
HP:0031704	Abnormal ear physiology	163183	SYNE4	OMIM:615540
HP:0031704	Abnormal ear physiology	23395	LARS2	OMIM:615300
HP:0031704	Abnormal ear physiology	353116	RILPL1	ORPHA:98897
HP:0031704	Abnormal ear physiology	10755	GIPC1	ORPHA:98897
HP:0031704	Abnormal ear physiology	126792	B3GALT6	ORPHA:536467
HP:0031704	Abnormal ear physiology	166929	SGMS2	OMIM:126550
HP:0031704	Abnormal ear physiology	3199	HOXA2	OMIM:612290
HP:0031704	Abnormal ear physiology	55294	FBXW7	OMIM:620012
HP:0031704	Abnormal ear physiology	56975	FAM20C	OMIM:259775
HP:0031704	Abnormal ear physiology	84265	POLR3GL	OMIM:619234
HP:0031704	Abnormal ear physiology	5269	SERPINB6	OMIM:613453
HP:0031704	Abnormal ear physiology	53904	MYO3A	OMIM:607101
HP:0031704	Abnormal ear physiology	9570	GOSR2	OMIM:620166
HP:0031704	Abnormal ear physiology	4171	MCM2	OMIM:616968
HP:0031704	Abnormal ear physiology	4287	ATXN3	ORPHA:276244
HP:0031704	Abnormal ear physiology	4287	ATXN3	ORPHA:276241
HP:0031704	Abnormal ear physiology	4287	ATXN3	ORPHA:276238
HP:0031704	Abnormal ear physiology	643226	GRXCR2	OMIM:615837
HP:0031704	Abnormal ear physiology	79966	SCD5	OMIM:619086
HP:0031704	Abnormal ear physiology	220074	LRTOMT	OMIM:611451
HP:0031704	Abnormal ear physiology	11190	CEP250	OMIM:618358
HP:0031704	Abnormal ear physiology	11133	KPTN	ORPHA:397612
HP:0031704	Abnormal ear physiology	81624	DIAPH3	OMIM:609129
HP:0031704	Abnormal ear physiology	23250	ATP11A	OMIM:620384
HP:0031704	Abnormal ear physiology	2639	GCDH	ORPHA:25
HP:0031704	Abnormal ear physiology	4352	MPL	ORPHA:71493
HP:0031704	Abnormal ear physiology	4352	MPL	ORPHA:3318
HP:0031704	Abnormal ear physiology	7066	THPO	ORPHA:71493
HP:0031704	Abnormal ear physiology	3736	KCNA1	OMIM:160120
HP:0031704	Abnormal ear physiology	3736	KCNA1	ORPHA:37612
HP:0031704	Abnormal ear physiology	4598	MVK	OMIM:260920
HP:0031704	Abnormal ear physiology	785	CACNB4	OMIM:613855
HP:0031704	Abnormal ear physiology	785	CACNB4	ORPHA:211067
HP:0031704	Abnormal ear physiology	2057	EPOR	ORPHA:90042
HP:0031704	Abnormal ear physiology	2057	EPOR	OMIM:133100
HP:0031704	Abnormal ear physiology	6261	RYR1	ORPHA:466650
HP:0031704	Abnormal ear physiology	51816	ADA2	ORPHA:820
HP:0031704	Abnormal ear physiology	6507	SLC1A3	ORPHA:209967
HP:0031704	Abnormal ear physiology	6507	SLC1A3	OMIM:612656
HP:0031704	Abnormal ear physiology	3728	JUP	ORPHA:34217
HP:0031704	Abnormal ear physiology	9049	AIP	ORPHA:2965
HP:0031704	Abnormal ear physiology	7132	TNFRSF1A	ORPHA:32960
HP:0031704	Abnormal ear physiology	3760	KCNJ3	ORPHA:334
HP:0031704	Abnormal ear physiology	4635	MYL4	ORPHA:334
HP:0031704	Abnormal ear physiology	1482	NKX2-5	ORPHA:334
HP:0031704	Abnormal ear physiology	1482	NKX2-5	ORPHA:871
HP:0031704	Abnormal ear physiology	137814	NKX2-6	ORPHA:334
HP:0031704	Abnormal ear physiology	4878	NPPA	ORPHA:334
HP:0031704	Abnormal ear physiology	4878	NPPA	ORPHA:1344
HP:0031704	Abnormal ear physiology	55800	SCN3B	ORPHA:334
HP:0031704	Abnormal ear physiology	2626	GATA4	ORPHA:334
HP:0031704	Abnormal ear physiology	2627	GATA6	ORPHA:334
HP:0031704	Abnormal ear physiology	6327	SCN2B	ORPHA:334
HP:0031704	Abnormal ear physiology	140628	GATA5	ORPHA:334
HP:0031704	Abnormal ear physiology	3759	KCNJ2	ORPHA:334
HP:0031704	Abnormal ear physiology	6324	SCN1B	ORPHA:334
HP:0031704	Abnormal ear physiology	6324	SCN1B	ORPHA:871
HP:0031704	Abnormal ear physiology	3741	KCNA5	ORPHA:334
HP:0031704	Abnormal ear physiology	9631	NUP155	ORPHA:334
HP:0031704	Abnormal ear physiology	4633	MYL2	OMIM:608758
HP:0031704	Abnormal ear physiology	2642	GCGR	OMIM:619290
HP:0031704	Abnormal ear physiology	6326	SCN2A	OMIM:618924
HP:0031704	Abnormal ear physiology	6326	SCN2A	ORPHA:140927
HP:0031704	Abnormal ear physiology	1281	COL3A1	ORPHA:286
HP:0031704	Abnormal ear physiology	3785	KCNQ2	ORPHA:140927
HP:0031704	Abnormal ear physiology	1759	DNM1	ORPHA:2382
HP:0031704	Abnormal ear physiology	2562	GABRB3	ORPHA:2382
HP:0031704	Abnormal ear physiology	5602	MAPK10	ORPHA:2382
HP:0031704	Abnormal ear physiology	23316	CUX2	ORPHA:2382
HP:0031704	Abnormal ear physiology	1106	CHD2	ORPHA:2382
HP:0031704	Abnormal ear physiology	2992	GYG1	ORPHA:263297
HP:0031704	Abnormal ear physiology	54805	CNNM2	OMIM:613882
HP:0031704	Abnormal ear physiology	190	NR0B1	ORPHA:95702
HP:0031704	Abnormal ear physiology	27010	TPK1	OMIM:614458
HP:0031704	Abnormal ear physiology	2313	FLI1	ORPHA:370348
HP:0031704	Abnormal ear physiology	2259	FGF14	OMIM:620174
HP:0031704	Abnormal ear physiology	54795	TRPM4	ORPHA:871
HP:0031704	Abnormal ear physiology	10019	SH2B3	OMIM:133100
HP:0031704	Abnormal ear physiology	10019	SH2B3	ORPHA:3318
HP:0031704	Abnormal ear physiology	1621	DBH	ORPHA:230
HP:0031704	Abnormal ear physiology	26576	SRPK3	OMIM:301134
HP:0031704	Abnormal ear physiology	8913	CACNA1G	ORPHA:458803
HP:0031704	Abnormal ear physiology	253017	TECRL	ORPHA:3286
HP:0031704	Abnormal ear physiology	845	CASQ2	ORPHA:3286
HP:0031704	Abnormal ear physiology	6262	RYR2	ORPHA:3286
HP:0031704	Abnormal ear physiology	3593	IL12B	ORPHA:3287
HP:0031704	Abnormal ear physiology	6945	MLX	ORPHA:3287
HP:0031704	Abnormal ear physiology	5371	PML	ORPHA:520
HP:0031704	Abnormal ear physiology	5914	RARA	ORPHA:520
HP:0031704	Abnormal ear physiology	359948	IRF2BP2	ORPHA:520
HP:0031704	Abnormal ear physiology	81608	FIP1L1	ORPHA:520
HP:0031704	Abnormal ear physiology	64859	NABP1	ORPHA:520
HP:0031704	Abnormal ear physiology	6777	STAT5B	ORPHA:520
HP:0031704	Abnormal ear physiology	4926	NUMA1	ORPHA:520
HP:0031704	Abnormal ear physiology	7704	ZBTB16	ORPHA:520
HP:0031704	Abnormal ear physiology	811	CALR	ORPHA:3318
HP:0031704	Abnormal ear physiology	7157	TP53	ORPHA:3318
HP:0031704	Abnormal ear physiology	54790	TET2	ORPHA:3318
HP:0031704	Abnormal ear physiology	149233	IL23R	ORPHA:117
HP:0031704	Abnormal ear physiology	6775	STAT4	ORPHA:117
HP:0031704	Abnormal ear physiology	3586	IL10	ORPHA:117
HP:0031704	Abnormal ear physiology	4210	MEFV	ORPHA:117
HP:0031704	Abnormal ear physiology	1230	CCR1	ORPHA:117
HP:0031704	Abnormal ear physiology	3592	IL12A	ORPHA:117
HP:0031704	Abnormal ear physiology	101928376	IL12A-AS1	ORPHA:117
HP:0031704	Abnormal ear physiology	7099	TLR4	ORPHA:117
HP:0031704	Abnormal ear physiology	3459	IFNGR1	ORPHA:117
HP:0031704	Abnormal ear physiology	720	C4A	ORPHA:117
HP:0031704	Abnormal ear physiology	337867	UBAC2	ORPHA:117
HP:0031704	Abnormal ear physiology	51752	ERAP1	ORPHA:117
HP:0031704	Abnormal ear physiology	8302	KLRC4	ORPHA:117
HP:0031704	Abnormal ear physiology	4009	LMX1A	OMIM:601412
HP:0031704	Abnormal ear physiology	5442	POLRMT	OMIM:619743
HP:0031704	Abnormal ear physiology	81790	RNF170	OMIM:608984
HP:0031704	Abnormal ear physiology	7407	VARS1	OMIM:617802
HP:0031704	Abnormal ear physiology	26012	NSMF	ORPHA:432
HP:0031704	Abnormal ear physiology	4808	NHLH2	ORPHA:432
HP:0031704	Abnormal ear physiology	2796	GNRH1	ORPHA:432
HP:0031704	Abnormal ear physiology	2798	GNRHR	ORPHA:432
HP:0031704	Abnormal ear physiology	84634	KISS1R	ORPHA:432
HP:0031704	Abnormal ear physiology	6866	TAC3	ORPHA:432
HP:0031704	Abnormal ear physiology	3814	KISS1	ORPHA:432
HP:0031704	Abnormal ear physiology	51241	COX16	OMIM:619355
HP:0031704	Abnormal ear physiology	80000	GREB1L	OMIM:619274
HP:0031704	Abnormal ear physiology	51081	MRPS7	OMIM:617872
HP:0031704	Abnormal ear physiology	4919	ROR1	OMIM:617654
HP:0031704	Abnormal ear physiology	55605	KIF21A	ORPHA:45358
HP:0031704	Abnormal ear physiology	347733	TUBB2B	ORPHA:45358
HP:0031704	Abnormal ear physiology	7846	TUBA1A	ORPHA:45358
HP:0031704	Abnormal ear physiology	401	PHOX2A	ORPHA:45358
HP:0031704	Abnormal ear physiology	84570	COL25A1	ORPHA:45358
HP:0031704	Abnormal ear physiology	253738	EBF3	ORPHA:96148
HP:0031704	Abnormal ear physiology	5959	RDH5	ORPHA:52427
HP:0031704	Abnormal ear physiology	54845	ESRP1	OMIM:618013
HP:0031704	Abnormal ear physiology	8942	KYNU	ORPHA:79155
HP:0031704	Abnormal ear physiology	1513	CTSK	ORPHA:763
HP:0031704	Abnormal ear physiology	2186	BPTF	ORPHA:529962
HP:0031704	Abnormal ear physiology	1757	SARDH	ORPHA:3129
HP:0031704	Abnormal ear physiology	10216	PRG4	ORPHA:2848
HP:0031704	Abnormal ear physiology	54820	NDE1	ORPHA:2177
HP:0031704	Abnormal ear physiology	410	ARSA	ORPHA:309256
HP:0031704	Abnormal ear physiology	410	ARSA	ORPHA:309271
HP:0031704	Abnormal ear physiology	410	ARSA	ORPHA:309263
HP:0031704	Abnormal ear physiology	84334	COA8	ORPHA:436271
HP:0031704	Abnormal ear physiology	2521	FUS	ORPHA:275872
HP:0031704	Abnormal ear physiology	7415	VCP	ORPHA:275872
HP:0031704	Abnormal ear physiology	23435	TARDBP	ORPHA:275872
HP:0031704	Abnormal ear physiology	29110	TBK1	ORPHA:275872
HP:0031704	Abnormal ear physiology	25914	RTTN	ORPHA:468631
HP:0031704	Abnormal ear physiology	6558	SLC12A2	OMIM:619083
HP:0031704	Abnormal ear physiology	6558	SLC12A2	OMIM:619080
HP:0031704	Abnormal ear physiology	2811	GP1BA	ORPHA:853
HP:0031704	Abnormal ear physiology	3674	ITGA2B	ORPHA:853
HP:0031704	Abnormal ear physiology	3673	ITGA2	ORPHA:853
HP:0031704	Abnormal ear physiology	135228	CD109	ORPHA:853
HP:0031704	Abnormal ear physiology	3690	ITGB3	ORPHA:853
HP:0031704	Abnormal ear physiology	4131	MAP1B	OMIM:619808
HP:0031704	Abnormal ear physiology	55739	NAXD	OMIM:618321
HP:0031704	Abnormal ear physiology	131118	DNAJC19	ORPHA:66634
HP:0031704	Abnormal ear physiology	2961	GTF2E2	OMIM:616943
HP:0031704	Abnormal ear physiology	2961	GTF2E2	ORPHA:33364
HP:0031704	Abnormal ear physiology	833	CARS1	ORPHA:33364
HP:0031704	Abnormal ear physiology	7737	RNF113A	ORPHA:33364
HP:0031704	Abnormal ear physiology	136647	MPLKIP	ORPHA:33364
HP:0031704	Abnormal ear physiology	6897	TARS1	ORPHA:33364
HP:0031704	Abnormal ear physiology	22856	CHSY1	OMIM:605282
HP:0031704	Abnormal ear physiology	50617	ATP6V0A4	OMIM:602722
HP:0031704	Abnormal ear physiology	219972	MPEG1	OMIM:619223
HP:0031704	Abnormal ear physiology	10533	ATG7	OMIM:619422
HP:0031704	Abnormal ear physiology	92949	ADAMTSL1	ORPHA:521445
HP:0031704	Abnormal ear physiology	29899	GPSM2	OMIM:604213
HP:0031704	Abnormal ear physiology	11078	TRIOBP	OMIM:609823
HP:0031704	Abnormal ear physiology	30813	VSX1	OMIM:614195
HP:0031704	Abnormal ear physiology	54949	SDHAF2	OMIM:601650
HP:0031704	Abnormal ear physiology	54949	SDHAF2	ORPHA:29072
HP:0031704	Abnormal ear physiology	1743	DLST	ORPHA:29072
HP:0031704	Abnormal ear physiology	4191	MDH2	ORPHA:29072
HP:0031704	Abnormal ear physiology	23095	KIF1B	ORPHA:29072
HP:0031704	Abnormal ear physiology	2271	FH	ORPHA:29072
HP:0031704	Abnormal ear physiology	8402	SLC25A11	ORPHA:29072
HP:0031704	Abnormal ear physiology	55654	TMEM127	ORPHA:29072
HP:0031704	Abnormal ear physiology	4763	NF1	ORPHA:29072
HP:0031704	Abnormal ear physiology	4149	MAX	ORPHA:29072
HP:0031704	Abnormal ear physiology	1788	DNMT3A	ORPHA:276621
HP:0031704	Abnormal ear physiology	2034	EPAS1	ORPHA:276621
HP:0031704	Abnormal ear physiology	57479	PRR12	OMIM:619539
HP:0031704	Abnormal ear physiology	55901	THSD1	OMIM:620244
HP:0031704	Abnormal ear physiology	22943	DKK1	ORPHA:268882
HP:0031704	Abnormal ear physiology	93986	FOXP2	ORPHA:251061
HP:0031704	Abnormal ear physiology	5962	RDX	OMIM:611022
HP:0031704	Abnormal ear physiology	4762	NEUROG1	OMIM:620469
HP:0031704	Abnormal ear physiology	51168	MYO15A	OMIM:600316
HP:0031704	Abnormal ear physiology	55687	TRMU	OMIM:580000
HP:0031704	Abnormal ear physiology	1801	DPH1	ORPHA:459061
HP:0031704	Abnormal ear physiology	1802	DPH2	ORPHA:459061
HP:0031704	Abnormal ear physiology	8565	YARS1	OMIM:619418
HP:0031704	Abnormal ear physiology	2059	EPS8	OMIM:615974
HP:0031704	Abnormal ear physiology	8314	BAP1	ORPHA:2495
HP:0031704	Abnormal ear physiology	4771	NF2	ORPHA:2495
HP:0031704	Abnormal ear physiology	6598	SMARCB1	ORPHA:2495
HP:0031704	Abnormal ear physiology	5155	PDGFB	ORPHA:2495
HP:0031704	Abnormal ear physiology	84231	TRAF7	ORPHA:2495
HP:0031704	Abnormal ear physiology	6608	SMO	ORPHA:2495
HP:0031704	Abnormal ear physiology	207	AKT1	ORPHA:2495
HP:0031704	Abnormal ear physiology	5290	PIK3CA	ORPHA:2495
HP:0031704	Abnormal ear physiology	7015	TERT	ORPHA:2495
HP:0031704	Abnormal ear physiology	51684	SUFU	ORPHA:2495
HP:0031704	Abnormal ear physiology	6605	SMARCE1	ORPHA:2495
HP:0031704	Abnormal ear physiology	3868	KRT16	ORPHA:2309
HP:0031704	Abnormal ear physiology	3872	KRT17	ORPHA:2309
HP:0031704	Abnormal ear physiology	3853	KRT6A	ORPHA:2309
HP:0031704	Abnormal ear physiology	3854	KRT6B	ORPHA:2309
HP:0031704	Abnormal ear physiology	847	CAT	ORPHA:926
HP:0031704	Abnormal ear physiology	54931	TRMT10C	OMIM:616974
HP:0031705	Compensatory head posture	55605	KIF21A	ORPHA:45358
HP:0031705	Compensatory head posture	55605	KIF21A	OMIM:135700
HP:0031705	Compensatory head posture	347733	TUBB2B	ORPHA:45358
HP:0031705	Compensatory head posture	7846	TUBA1A	ORPHA:45358
HP:0031705	Compensatory head posture	401	PHOX2A	ORPHA:45358
HP:0031705	Compensatory head posture	10381	TUBB3	ORPHA:45358
HP:0031705	Compensatory head posture	10381	TUBB3	OMIM:600638
HP:0031705	Compensatory head posture	84570	COL25A1	ORPHA:45358
HP:0031705	Compensatory head posture	57167	SALL4	ORPHA:233
HP:0031705	Compensatory head posture	9935	MAFB	ORPHA:233
HP:0031705	Compensatory head posture	1123	CHN1	ORPHA:233
HP:0031705	Compensatory head posture	4308	TRPM1	ORPHA:215
HP:0031705	Compensatory head posture	57010	CABP4	ORPHA:215
HP:0031705	Compensatory head posture	345193	LRIT3	ORPHA:215
HP:0031705	Compensatory head posture	93589	CACNA2D4	ORPHA:215
HP:0031705	Compensatory head posture	2916	GRM6	ORPHA:215
HP:0031705	Compensatory head posture	5158	PDE6B	ORPHA:215
HP:0031705	Compensatory head posture	440435	GPR179	ORPHA:215
HP:0031705	Compensatory head posture	6011	GRK1	ORPHA:215
HP:0031705	Compensatory head posture	778	CACNA1F	ORPHA:215
HP:0031705	Compensatory head posture	6010	RHO	ORPHA:215
HP:0031705	Compensatory head posture	9187	SLC24A1	ORPHA:215
HP:0031705	Compensatory head posture	6295	SAG	ORPHA:215
HP:0031705	Compensatory head posture	2784	GNB3	ORPHA:215
HP:0031705	Compensatory head posture	2779	GNAT1	ORPHA:215
HP:0031705	Compensatory head posture	60506	NYX	ORPHA:215
HP:0034964	Wide cavum septum pellucidum	9373	PLAA	OMIM:617527
HP:0002866	Hypoplastic iliac wing	54808	DYM	OMIM:223800
HP:0002866	Hypoplastic iliac wing	2074	ERCC6	OMIM:133540
HP:0002866	Hypoplastic iliac wing	132884	EVC2	OMIM:225500
HP:0002866	Hypoplastic iliac wing	2121	EVC	OMIM:225500
HP:0002866	Hypoplastic iliac wing	7476	WNT7A	OMIM:228930
HP:0002866	Hypoplastic iliac wing	579	NKX3-2	OMIM:613330
HP:0002866	Hypoplastic iliac wing	2033	EP300	OMIM:180849
HP:0002866	Hypoplastic iliac wing	1387	CREBBP	OMIM:180849
HP:0002866	Hypoplastic iliac wing	2335	FN1	ORPHA:93315
HP:0002866	Hypoplastic iliac wing	1280	COL2A1	ORPHA:93315
HP:0002866	Hypoplastic iliac wing	1280	COL2A1	OMIM:200610
HP:0002866	Hypoplastic iliac wing	5116	PCNT	ORPHA:2637
HP:0002866	Hypoplastic iliac wing	5116	PCNT	OMIM:210720
HP:0002866	Hypoplastic iliac wing	10013	HDAC6	ORPHA:163966
HP:0002866	Hypoplastic iliac wing	10013	HDAC6	OMIM:300863
HP:0002866	Hypoplastic iliac wing	2146	EZH2	OMIM:277590
HP:0002866	Hypoplastic iliac wing	147372	CCBE1	OMIM:235510
HP:0002866	Hypoplastic iliac wing	411	ARSB	OMIM:253200
HP:0002866	Hypoplastic iliac wing	1513	CTSK	ORPHA:763
HP:0002866	Hypoplastic iliac wing	3549	IHH	OMIM:607778
HP:0002866	Hypoplastic iliac wing	8726	EED	OMIM:617561
HP:0002866	Hypoplastic iliac wing	860	RUNX2	OMIM:119600
HP:0002866	Hypoplastic iliac wing	6913	TBX15	OMIM:260660
HP:0002866	Hypoplastic iliac wing	4089	SMAD4	OMIM:139210
HP:0002866	Hypoplastic iliac wing	26175	LYSET	OMIM:619345
HP:0002866	Hypoplastic iliac wing	54101	RIPK4	OMIM:263650
HP:0002866	Hypoplastic iliac wing	1297	COL9A1	OMIM:614134
HP:0002866	Hypoplastic iliac wing	6399	TRAPPC2	OMIM:313400
HP:0002866	Hypoplastic iliac wing	6662	SOX9	OMIM:114290
HP:0002866	Hypoplastic iliac wing	388015	RTL1	ORPHA:96334
HP:0002866	Hypoplastic iliac wing	8788	DLK1	ORPHA:96334
HP:0002866	Hypoplastic iliac wing	55384	MEG3	ORPHA:96334
HP:0002866	Hypoplastic iliac wing	1161	ERCC8	OMIM:216400
HP:0002866	Hypoplastic iliac wing	3911	LAMA5	OMIM:620076
HP:0006429	Broad femoral neck	2535	FZD2	OMIM:164745
HP:0006429	Broad femoral neck	90	ACVR1	OMIM:135100
HP:0006429	Broad femoral neck	1300	COL10A1	OMIM:156500
HP:0006429	Broad femoral neck	55325	UFSP2	ORPHA:2114
HP:0006429	Broad femoral neck	55325	UFSP2	OMIM:142669
HP:0006429	Broad femoral neck	5745	PTH1R	OMIM:600002
HP:0006429	Broad femoral neck	91252	SLC39A13	ORPHA:157965
HP:0006429	Broad femoral neck	91252	SLC39A13	OMIM:612350
HP:0006429	Broad femoral neck	372	ARCN1	OMIM:617164
HP:0006429	Broad femoral neck	83452	RAB33B	OMIM:615222
HP:0006429	Broad femoral neck	1311	COMP	OMIM:132400
HP:0006429	Broad femoral neck	8838	CCN6	ORPHA:1159
HP:0006429	Broad femoral neck	1836	SLC26A2	ORPHA:93307
HP:0006429	Broad femoral neck	79639	TMEM53	OMIM:619727
HP:0006429	Broad femoral neck	25782	RAB3GAP2	OMIM:212720
HP:0006429	Broad femoral neck	9382	COG1	OMIM:611209
HP:0006429	Broad femoral neck	124583	CANT1	OMIM:251450
HP:0006429	Broad femoral neck	54808	DYM	ORPHA:239
HP:0006429	Broad femoral neck	4148	MATN3	OMIM:607078
HP:0008838	Stippled calcification proximal humeral epiphyses	8443	GNPAT	OMIM:222765
HP:0008830	Hypoplastic pubic ramus	23522	KAT6B	OMIM:606170
HP:0008830	Hypoplastic pubic ramus	10815	CPLX1	ORPHA:280
HP:0008830	Hypoplastic pubic ramus	54872	PIGG	ORPHA:280
HP:0008830	Hypoplastic pubic ramus	7469	NELFA	ORPHA:280
HP:0008830	Hypoplastic pubic ramus	1487	CTBP1	ORPHA:280
HP:0008830	Hypoplastic pubic ramus	3954	LETM1	ORPHA:280
HP:0008830	Hypoplastic pubic ramus	7468	NSD2	ORPHA:280
HP:0008833	Irregular acetabular roof	1311	COMP	ORPHA:750
HP:0008833	Irregular acetabular roof	8838	CCN6	ORPHA:1159
HP:0008833	Irregular acetabular roof	55325	UFSP2	OMIM:617974
HP:0008833	Irregular acetabular roof	1280	COL2A1	ORPHA:93316
HP:0008833	Irregular acetabular roof	59341	TRPV4	OMIM:184252
HP:0008833	Irregular acetabular roof	1300	COL10A1	OMIM:156500
HP:0008833	Irregular acetabular roof	153642	ARSK	OMIM:619698
HP:0003180	Flat acetabular roof	1311	COMP	ORPHA:750
HP:0003180	Flat acetabular roof	54808	DYM	OMIM:223800
HP:0003180	Flat acetabular roof	1280	COL2A1	OMIM:271700
HP:0003180	Flat acetabular roof	1280	COL2A1	OMIM:151210
HP:0003180	Flat acetabular roof	1280	COL2A1	ORPHA:94068
HP:0003180	Flat acetabular roof	59341	TRPV4	OMIM:184252
HP:0003180	Flat acetabular roof	59341	TRPV4	ORPHA:93314
HP:0003180	Flat acetabular roof	59341	TRPV4	OMIM:156530
HP:0003180	Flat acetabular roof	1836	SLC26A2	OMIM:256050
HP:0003180	Flat acetabular roof	153241	CEP120	OMIM:616300
HP:0003180	Flat acetabular roof	1108	CHD4	OMIM:617159
HP:0003180	Flat acetabular roof	54187	NANS	OMIM:610442
HP:0003180	Flat acetabular roof	64131	XYLT1	OMIM:615777
HP:0003180	Flat acetabular roof	124583	CANT1	OMIM:617719
HP:0003180	Flat acetabular roof	124583	CANT1	OMIM:251450
HP:0003180	Flat acetabular roof	2317	FLNB	OMIM:108721
HP:0003180	Flat acetabular roof	9896	FIG4	OMIM:216340
HP:0003180	Flat acetabular roof	4148	MATN3	OMIM:608728
HP:0003180	Flat acetabular roof	5745	PTH1R	OMIM:600002
HP:0003180	Flat acetabular roof	2261	FGFR3	ORPHA:15
HP:0003180	Flat acetabular roof	57539	WDR35	OMIM:614091
HP:0003180	Flat acetabular roof	3636	INPPL1	OMIM:258480
HP:0003180	Flat acetabular roof	633	BGN	OMIM:300106
HP:0003180	Flat acetabular roof	26175	LYSET	OMIM:619345
HP:0003180	Flat acetabular roof	9321	TRIP11	OMIM:184260
HP:0003180	Flat acetabular roof	83452	RAB33B	OMIM:615222
HP:0003180	Flat acetabular roof	51098	IFT52	OMIM:617102
HP:0003180	Flat acetabular roof	55790	CSGALNACT1	OMIM:618870
HP:0003180	Flat acetabular roof	51025	PAM16	OMIM:613320
HP:0003180	Flat acetabular roof	23169	SLC35D1	OMIM:269250
HP:0003180	Flat acetabular roof	79158	GNPTAB	OMIM:252500
HP:0003180	Flat acetabular roof	9382	COG1	ORPHA:263508
HP:0003180	Flat acetabular roof	2879	GPX4	OMIM:250220
HP:0008835	Multicentric femoral head ossification	54808	DYM	OMIM:607326
HP:0031713	Constant exotropia	4841	NONO	ORPHA:466791
HP:0031717	Alternating exotropia	23291	FBXW11	OMIM:618914
HP:0031717	Alternating exotropia	8367	H4C5	OMIM:619950
HP:0031717	Alternating exotropia	2590	GALNT2	OMIM:618885
HP:0031717	Alternating exotropia	224	ALDH3A2	OMIM:270200
HP:0034976	Absent pituitary stalk	6091	ROBO1	OMIM:620303
HP:0034977	Abnormal pituitary stalk morphology	6091	ROBO1	OMIM:620303
HP:0034978	Interrupted pituitary stalk	6091	ROBO1	OMIM:620303
HP:0001510	Growth delay	8450	CUL4B	OMIM:300354
HP:0001510	Growth delay	6938	TCF12	OMIM:619718
HP:0001510	Growth delay	6777	STAT5B	OMIM:618985
HP:0001510	Growth delay	3643	INSR	ORPHA:2297
HP:0001510	Growth delay	125150	ZSWIM7	OMIM:619834
HP:0001510	Growth delay	125150	ZSWIM7	ORPHA:243
HP:0001510	Growth delay	5447	POR	ORPHA:95699
HP:0001510	Growth delay	2099	ESR1	OMIM:615363
HP:0001510	Growth delay	1528	CYB5A	ORPHA:90796
HP:0001510	Growth delay	1586	CYP17A1	ORPHA:90796
HP:0001510	Growth delay	1586	CYP17A1	ORPHA:90793
HP:0001510	Growth delay	4221	MEN1	ORPHA:2965
HP:0001510	Growth delay	64072	CDH23	ORPHA:2965
HP:0001510	Growth delay	64072	CDH23	ORPHA:91347
HP:0001510	Growth delay	9049	AIP	ORPHA:2965
HP:0001510	Growth delay	472	ATM	OMIM:208900
HP:0001510	Growth delay	472	ATM	ORPHA:100
HP:0001510	Growth delay	2314	FLII	ORPHA:819
HP:0001510	Growth delay	23096	IQSEC2	ORPHA:819
HP:0001510	Growth delay	10743	RAI1	ORPHA:819
HP:0001510	Growth delay	10522	DEAF1	ORPHA:819
HP:0001510	Growth delay	55636	CHD7	ORPHA:138
HP:0001510	Growth delay	55636	CHD7	OMIM:214800
HP:0001510	Growth delay	55636	CHD7	ORPHA:478
HP:0001510	Growth delay	55636	CHD7	ORPHA:432
HP:0001510	Growth delay	9723	SEMA3E	ORPHA:138
HP:0001510	Growth delay	6926	TBX3	ORPHA:3138
HP:0001510	Growth delay	6926	TBX3	OMIM:181450
HP:0001510	Growth delay	7040	TGFB1	OMIM:131300
HP:0001510	Growth delay	7040	TGFB1	ORPHA:1328
HP:0001510	Growth delay	2796	GNRH1	OMIM:614841
HP:0001510	Growth delay	2796	GNRH1	ORPHA:432
HP:0001510	Growth delay	55366	LGR4	OMIM:619613
HP:0001510	Growth delay	3953	LEPR	OMIM:614963
HP:0001510	Growth delay	79184	BRCC3	ORPHA:280679
HP:0001510	Growth delay	3117	HLA-DQA1	OMIM:212750
HP:0001510	Growth delay	3119	HLA-DQB1	OMIM:212750
HP:0001510	Growth delay	157680	VPS13B	OMIM:216550
HP:0001510	Growth delay	157680	VPS13B	ORPHA:193
HP:0001510	Growth delay	51651	PTRH2	ORPHA:456312
HP:0001510	Growth delay	51651	PTRH2	OMIM:616263
HP:0001510	Growth delay	833	CARS1	OMIM:618891
HP:0001510	Growth delay	6662	SOX9	ORPHA:251510
HP:0001510	Growth delay	6845	VAMP7	ORPHA:251510
HP:0001510	Growth delay	4214	MAP3K1	ORPHA:251510
HP:0001510	Growth delay	2516	NR5A1	ORPHA:251510
HP:0001510	Growth delay	2516	NR5A1	ORPHA:243
HP:0001510	Growth delay	7490	WT1	ORPHA:251510
HP:0001510	Growth delay	57647	DHX37	ORPHA:251510
HP:0001510	Growth delay	6736	SRY	ORPHA:251510
HP:0001510	Growth delay	6736	SRY	ORPHA:1772
HP:0001510	Growth delay	23414	ZFPM2	ORPHA:251510
HP:0001510	Growth delay	190	NR0B1	ORPHA:251510
HP:0001510	Growth delay	190	NR0B1	OMIM:300200
HP:0001510	Growth delay	190	NR0B1	ORPHA:95702
HP:0001510	Growth delay	4853	NOTCH2	ORPHA:955
HP:0001510	Growth delay	55131	RBM28	ORPHA:157954
HP:0001510	Growth delay	55131	RBM28	OMIM:612079
HP:0001510	Growth delay	8822	FGF17	OMIM:615270
HP:0001510	Growth delay	8822	FGF17	ORPHA:478
HP:0001510	Growth delay	8822	FGF17	ORPHA:432
HP:0001510	Growth delay	23767	FLRT3	OMIM:615271
HP:0001510	Growth delay	23767	FLRT3	ORPHA:478
HP:0001510	Growth delay	6774	STAT3	OMIM:615952
HP:0001510	Growth delay	8239	USP9X	ORPHA:480880
HP:0001510	Growth delay	493856	CISD2	ORPHA:3463
HP:0001510	Growth delay	128674	PROKR2	ORPHA:95496
HP:0001510	Growth delay	128674	PROKR2	ORPHA:478
HP:0001510	Growth delay	128674	PROKR2	ORPHA:432
HP:0001510	Growth delay	55717	WDR11	ORPHA:95496
HP:0001510	Growth delay	55717	WDR11	ORPHA:478
HP:0001510	Growth delay	55717	WDR11	ORPHA:432
HP:0001510	Growth delay	6091	ROBO1	ORPHA:95496
HP:0001510	Growth delay	23432	GPR161	ORPHA:95496
HP:0001510	Growth delay	55210	ATAD3A	ORPHA:496790
HP:0001510	Growth delay	26137	ZBTB20	OMIM:259050
HP:0001510	Growth delay	3972	LHB	OMIM:228300
HP:0001510	Growth delay	59336	PRDM13	OMIM:619761
HP:0001510	Growth delay	6638	SNRPN	ORPHA:98754
HP:0001510	Growth delay	6638	SNRPN	ORPHA:177904
HP:0001510	Growth delay	6638	SNRPN	ORPHA:177901
HP:0001510	Growth delay	4692	NDN	ORPHA:98754
HP:0001510	Growth delay	4692	NDN	ORPHA:177904
HP:0001510	Growth delay	4692	NDN	ORPHA:177901
HP:0001510	Growth delay	54551	MAGEL2	ORPHA:98754
HP:0001510	Growth delay	54551	MAGEL2	OMIM:176270
HP:0001510	Growth delay	54551	MAGEL2	ORPHA:177904
HP:0001510	Growth delay	54551	MAGEL2	ORPHA:177901
HP:0001510	Growth delay	4948	OCA2	ORPHA:98754
HP:0001510	Growth delay	4948	OCA2	ORPHA:177904
HP:0001510	Growth delay	4948	OCA2	ORPHA:177901
HP:0001510	Growth delay	2717	GLA	OMIM:301500
HP:0001510	Growth delay	2717	GLA	ORPHA:324
HP:0001510	Growth delay	29893	PSMC3IP	ORPHA:243
HP:0001510	Growth delay	29893	PSMC3IP	OMIM:614324
HP:0001510	Growth delay	171568	POLR3H	ORPHA:243
HP:0001510	Growth delay	9210	BMP15	ORPHA:243
HP:0001510	Growth delay	9210	BMP15	OMIM:300510
HP:0001510	Growth delay	57122	NUP107	ORPHA:243
HP:0001510	Growth delay	23514	SPIDR	ORPHA:243
HP:0001510	Growth delay	23514	SPIDR	OMIM:619665
HP:0001510	Growth delay	2492	FSHR	ORPHA:243
HP:0001510	Growth delay	646	BNC1	ORPHA:243
HP:0001510	Growth delay	4438	MSH4	ORPHA:243
HP:0001510	Growth delay	4509	MT-ATP8	ORPHA:480
HP:0001510	Growth delay	4567	MT-TL1	ORPHA:480
HP:0001510	Growth delay	50484	RRM2B	ORPHA:480
HP:0001510	Growth delay	93587	TRMT10A	OMIM:616033
HP:0001510	Growth delay	93587	TRMT10A	ORPHA:391408
HP:0001510	Growth delay	6307	MSMO1	OMIM:616834
HP:0001510	Growth delay	78995	HROB	OMIM:620897
HP:0001510	Growth delay	1188	CLCNKB	ORPHA:358
HP:0001510	Growth delay	10371	SEMA3A	ORPHA:478
HP:0001510	Growth delay	81848	SPRY4	ORPHA:478
HP:0001510	Growth delay	81848	SPRY4	ORPHA:432
HP:0001510	Growth delay	79625	NDNF	ORPHA:478
HP:0001510	Growth delay	389549	FEZF1	ORPHA:478
HP:0001510	Growth delay	1630	DCC	ORPHA:478
HP:0001510	Growth delay	3730	ANOS1	ORPHA:478
HP:0001510	Growth delay	54756	IL17RD	ORPHA:478
HP:0001510	Growth delay	285025	CCDC141	ORPHA:478
HP:0001510	Growth delay	60675	PROK2	ORPHA:478
HP:0001510	Growth delay	60675	PROK2	ORPHA:432
HP:0001510	Growth delay	1848	DUSP6	ORPHA:478
HP:0001510	Growth delay	1848	DUSP6	ORPHA:432
HP:0001510	Growth delay	6870	TACR3	ORPHA:478
HP:0001510	Growth delay	6870	TACR3	ORPHA:432
HP:0001510	Growth delay	9394	HS6ST1	ORPHA:478
HP:0001510	Growth delay	9394	HS6ST1	ORPHA:432
HP:0001510	Growth delay	26012	NSMF	ORPHA:432
HP:0001510	Growth delay	4808	NHLH2	ORPHA:432
HP:0001510	Growth delay	2798	GNRHR	ORPHA:432
HP:0001510	Growth delay	84634	KISS1R	ORPHA:432
HP:0001510	Growth delay	6866	TAC3	ORPHA:432
HP:0001510	Growth delay	3814	KISS1	ORPHA:432
HP:0001510	Growth delay	2245	FGD1	OMIM:305400
HP:0001510	Growth delay	100033413	SNORD116-1	OMIM:176270
HP:0001510	Growth delay	8924	HERC2	OMIM:176270
HP:0001510	Growth delay	23742	NPAP1	OMIM:176270
HP:0001510	Growth delay	338433	SNORD115-1	OMIM:176270
HP:0001510	Growth delay	7681	MKRN3	OMIM:176270
HP:0001510	Growth delay	145624	PWAR1	OMIM:176270
HP:0001510	Growth delay	3653	IPW	OMIM:176270
HP:0001510	Growth delay	791114	PWRN1	OMIM:176270
HP:0001510	Growth delay	2488	FSHB	ORPHA:52901
HP:0001510	Growth delay	1363	CPE	OMIM:619326
HP:0001510	Growth delay	4952	OCRL	ORPHA:534
HP:0001510	Growth delay	2592	GALT	ORPHA:79239
HP:0001510	Growth delay	6609	SMPD1	ORPHA:77293
HP:0001510	Growth delay	1583	CYP11A1	ORPHA:289548
HP:0001510	Growth delay	1583	CYP11A1	ORPHA:168558
HP:0001510	Growth delay	4763	NF1	ORPHA:97685
HP:0001510	Growth delay	23476	BRD4	ORPHA:199
HP:0001510	Growth delay	9126	SMC3	ORPHA:199
HP:0001510	Growth delay	6878	TAF6	ORPHA:199
HP:0001510	Growth delay	25836	NIPBL	ORPHA:199
HP:0001510	Growth delay	55869	HDAC8	ORPHA:199
HP:0001510	Growth delay	953	ENTPD1	ORPHA:401810
HP:0001510	Growth delay	953	ENTPD1	OMIM:615683
HP:0001510	Growth delay	6711	SPTBN1	OMIM:619475
HP:0001510	Growth delay	80152	CENPT	OMIM:618702
HP:0001510	Growth delay	2132	EXT2	ORPHA:52022
HP:0001510	Growth delay	60529	ALX4	ORPHA:52022
HP:0001510	Growth delay	51317	PHF21A	ORPHA:52022
HP:0001510	Growth delay	4841	NONO	OMIM:300967
HP:0001510	Growth delay	4841	NONO	ORPHA:466791
HP:0001510	Growth delay	79983	POF1B	OMIM:300604
HP:0001510	Growth delay	6299	SALL1	ORPHA:857
HP:0001510	Growth delay	51339	DACT1	ORPHA:857
HP:0001510	Growth delay	84295	PHF6	OMIM:301900
HP:0001510	Growth delay	1984	EIF5A	OMIM:619376
HP:0001510	Growth delay	695	BTK	OMIM:307200
HP:0001510	Growth delay	4693	NDP	ORPHA:649
HP:0001510	Growth delay	22930	RAB3GAP1	ORPHA:2510
HP:0001510	Growth delay	25782	RAB3GAP2	ORPHA:2510
HP:0001510	Growth delay	22931	RAB18	ORPHA:2510
HP:0001510	Growth delay	128637	TBC1D20	ORPHA:2510
HP:0001510	Growth delay	7543	ZFX	OMIM:301118
HP:0001510	Growth delay	55315	SLC29A3	ORPHA:168569
HP:0001510	Growth delay	367	AR	ORPHA:99429
HP:0001510	Growth delay	9325	TRIP4	ORPHA:486815
HP:0001510	Growth delay	1497	CTNS	OMIM:219800
HP:0001510	Growth delay	1497	CTNS	ORPHA:411629
HP:0001510	Growth delay	1497	CTNS	ORPHA:411634
HP:0001510	Growth delay	55703	POLR3B	OMIM:614381
HP:0001510	Growth delay	6555	SLC10A2	OMIM:613291
HP:0001510	Growth delay	26235	FBXL4	OMIM:615471
HP:0001510	Growth delay	8367	H4C5	OMIM:619950
HP:0001510	Growth delay	23019	CNOT1	OMIM:618500
HP:0001510	Growth delay	1493	CTLA4	ORPHA:436159
HP:0001510	Growth delay	51569	UFM1	OMIM:617899
HP:0001510	Growth delay	3265	HRAS	ORPHA:2612
HP:0001510	Growth delay	3265	HRAS	OMIM:163200
HP:0001510	Growth delay	3845	KRAS	ORPHA:2612
HP:0001510	Growth delay	3845	KRAS	OMIM:600268
HP:0001510	Growth delay	3845	KRAS	OMIM:163200
HP:0001510	Growth delay	3845	KRAS	ORPHA:3339
HP:0001510	Growth delay	4893	NRAS	ORPHA:2612
HP:0001510	Growth delay	4893	NRAS	ORPHA:389
HP:0001510	Growth delay	4893	NRAS	OMIM:163200
HP:0001510	Growth delay	4893	NRAS	OMIM:613224
HP:0001510	Growth delay	8518	ELP1	ORPHA:1764
HP:0001510	Growth delay	8518	ELP1	OMIM:223900
HP:0001510	Growth delay	8425	LTBP4	OMIM:613177
HP:0001510	Growth delay	55240	STEAP3	OMIM:615234
HP:0001510	Growth delay	55240	STEAP3	ORPHA:300298
HP:0001510	Growth delay	55823	VPS11	ORPHA:466934
HP:0001510	Growth delay	6898	TAT	OMIM:276600
HP:0001510	Growth delay	538	ATP7A	OMIM:304150
HP:0001510	Growth delay	538	ATP7A	ORPHA:388
HP:0001510	Growth delay	4047	LSS	ORPHA:2850
HP:0001510	Growth delay	197	AHSG	ORPHA:2850
HP:0001510	Growth delay	3694	ITGB6	ORPHA:2850
HP:0001510	Growth delay	3190	HNRNPK	ORPHA:453504
HP:0001510	Growth delay	3190	HNRNPK	ORPHA:352665
HP:0001510	Growth delay	3909	LAMA3	ORPHA:79404
HP:0001510	Growth delay	3909	LAMA3	ORPHA:79402
HP:0001510	Growth delay	3918	LAMC2	ORPHA:79404
HP:0001510	Growth delay	3918	LAMC2	ORPHA:79402
HP:0001510	Growth delay	3914	LAMB3	ORPHA:79404
HP:0001510	Growth delay	3914	LAMB3	ORPHA:79402
HP:0001510	Growth delay	5604	MAP2K1	ORPHA:389
HP:0001510	Growth delay	673	BRAF	ORPHA:389
HP:0001510	Growth delay	673	BRAF	ORPHA:54595
HP:0001510	Growth delay	673	BRAF	ORPHA:500
HP:0001510	Growth delay	673	BRAF	OMIM:613707
HP:0001510	Growth delay	673	BRAF	OMIM:613706
HP:0001510	Growth delay	1308	COL17A1	ORPHA:79406
HP:0001510	Growth delay	1308	COL17A1	ORPHA:79402
HP:0001510	Growth delay	215	ABCD1	ORPHA:388
HP:0001510	Growth delay	5979	RET	ORPHA:388
HP:0001510	Growth delay	2668	GDNF	ORPHA:388
HP:0001510	Growth delay	6608	SMO	ORPHA:388
HP:0001510	Growth delay	1889	ECE1	ORPHA:388
HP:0001510	Growth delay	6720	SREBF1	ORPHA:388
HP:0001510	Growth delay	1908	EDN3	ORPHA:388
HP:0001510	Growth delay	223117	SEMA3D	ORPHA:388
HP:0001510	Growth delay	1910	EDNRB	ORPHA:388
HP:0001510	Growth delay	10512	SEMA3C	ORPHA:388
HP:0001510	Growth delay	2064	ERBB2	ORPHA:388
HP:0001510	Growth delay	2065	ERBB3	ORPHA:388
HP:0001510	Growth delay	4902	NRTN	ORPHA:388
HP:0001510	Growth delay	4312	MMP1	ORPHA:79408
HP:0001510	Growth delay	1294	COL7A1	ORPHA:79408
HP:0001510	Growth delay	1294	COL7A1	ORPHA:79409
HP:0001510	Growth delay	1294	COL7A1	ORPHA:79410
HP:0001510	Growth delay	1294	COL7A1	ORPHA:79411
HP:0001510	Growth delay	1294	COL7A1	OMIM:226600
HP:0001510	Growth delay	1294	COL7A1	ORPHA:89842
HP:0001510	Growth delay	7849	PAX8	OMIM:218700
HP:0001510	Growth delay	7849	PAX8	ORPHA:95720
HP:0001510	Growth delay	7849	PAX8	ORPHA:95713
HP:0001510	Growth delay	7849	PAX8	ORPHA:95712
HP:0001510	Growth delay	7259	TSPYL1	OMIM:608800
HP:0001510	Growth delay	7259	TSPYL1	ORPHA:168593
HP:0001510	Growth delay	5932	RBBP8	OMIM:606744
HP:0001510	Growth delay	80816	ASXL3	OMIM:615485
HP:0001510	Growth delay	55159	RFWD3	OMIM:617784
HP:0001510	Growth delay	55159	RFWD3	ORPHA:84
HP:0001510	Growth delay	3162	HMOX1	OMIM:614034
HP:0001510	Growth delay	1723	DHODH	OMIM:263750
HP:0001510	Growth delay	2782	GNB1	ORPHA:488613
HP:0001510	Growth delay	2782	GNB1	OMIM:616973
HP:0001510	Growth delay	4000	LMNA	OMIM:248370
HP:0001510	Growth delay	4000	LMNA	OMIM:176670
HP:0001510	Growth delay	10084	PQBP1	ORPHA:93947
HP:0001510	Growth delay	56259	CTNNBL1	OMIM:619846
HP:0001510	Growth delay	120227	CYP2R1	OMIM:600081
HP:0001510	Growth delay	79158	GNPTAB	OMIM:252500
HP:0001510	Growth delay	7252	TSHB	ORPHA:90674
HP:0001510	Growth delay	81693	AMN	OMIM:618882
HP:0001510	Growth delay	6772	STAT1	OMIM:614162
HP:0001510	Growth delay	6772	STAT1	ORPHA:391487
HP:0001510	Growth delay	10584	COLEC10	OMIM:248340
HP:0001510	Growth delay	5832	ALDH18A1	OMIM:616586
HP:0001510	Growth delay	5832	ALDH18A1	ORPHA:447760
HP:0001510	Growth delay	55154	MSTO1	OMIM:617675
HP:0001510	Growth delay	55154	MSTO1	ORPHA:502423
HP:0001510	Growth delay	2688	GH1	OMIM:262650
HP:0001510	Growth delay	2688	GH1	OMIM:262400
HP:0001510	Growth delay	1777	DNASE2	OMIM:619858
HP:0001510	Growth delay	816	CAMK2B	OMIM:617799
HP:0001510	Growth delay	10111	RAD50	OMIM:613078
HP:0001510	Growth delay	10352	WARS2	OMIM:619738
HP:0001510	Growth delay	815	CAMK2A	OMIM:617798
HP:0001510	Growth delay	3423	IDS	ORPHA:217085
HP:0001510	Growth delay	3423	IDS	ORPHA:217093
HP:0001510	Growth delay	7994	KAT6A	ORPHA:457193
HP:0001510	Growth delay	7994	KAT6A	OMIM:616268
HP:0001510	Growth delay	3691	ITGB4	ORPHA:79402
HP:0001510	Growth delay	1716	DGUOK	OMIM:251880
HP:0001510	Growth delay	2626	GATA4	ORPHA:251071
HP:0001510	Growth delay	261734	NPHP4	OMIM:606966
HP:0001510	Growth delay	54968	TMEM70	OMIM:614052
HP:0001510	Growth delay	54968	TMEM70	ORPHA:1194
HP:0001510	Growth delay	1594	CYP27B1	OMIM:264700
HP:0001510	Growth delay	54872	PIGG	ORPHA:488635
HP:0001510	Growth delay	57178	ZMIZ1	OMIM:618659
HP:0001510	Growth delay	3340	NDST1	OMIM:616116
HP:0001510	Growth delay	1482	NKX2-5	OMIM:225250
HP:0001510	Growth delay	1482	NKX2-5	ORPHA:95713
HP:0001510	Growth delay	1482	NKX2-5	ORPHA:95712
HP:0001510	Growth delay	28514	DLL1	ORPHA:93926
HP:0001510	Growth delay	28514	DLL1	ORPHA:93924
HP:0001510	Growth delay	28514	DLL1	ORPHA:93925
HP:0001510	Growth delay	28514	DLL1	ORPHA:220386
HP:0001510	Growth delay	2253	FGF8	ORPHA:93926
HP:0001510	Growth delay	2253	FGF8	ORPHA:93924
HP:0001510	Growth delay	2253	FGF8	ORPHA:93925
HP:0001510	Growth delay	2253	FGF8	ORPHA:220386
HP:0001510	Growth delay	6496	SIX3	ORPHA:93926
HP:0001510	Growth delay	6496	SIX3	ORPHA:93924
HP:0001510	Growth delay	6496	SIX3	ORPHA:93925
HP:0001510	Growth delay	6496	SIX3	ORPHA:220386
HP:0001510	Growth delay	7050	TGIF1	ORPHA:93926
HP:0001510	Growth delay	7050	TGIF1	ORPHA:93924
HP:0001510	Growth delay	7050	TGIF1	ORPHA:93925
HP:0001510	Growth delay	7050	TGIF1	ORPHA:220386
HP:0001510	Growth delay	4838	NODAL	ORPHA:93926
HP:0001510	Growth delay	4838	NODAL	ORPHA:93924
HP:0001510	Growth delay	4838	NODAL	ORPHA:93925
HP:0001510	Growth delay	4838	NODAL	ORPHA:220386
HP:0001510	Growth delay	6469	SHH	ORPHA:93926
HP:0001510	Growth delay	6469	SHH	ORPHA:93924
HP:0001510	Growth delay	6469	SHH	ORPHA:93925
HP:0001510	Growth delay	6469	SHH	ORPHA:220386
HP:0001510	Growth delay	7546	ZIC2	ORPHA:93926
HP:0001510	Growth delay	7546	ZIC2	ORPHA:93924
HP:0001510	Growth delay	7546	ZIC2	ORPHA:93925
HP:0001510	Growth delay	7546	ZIC2	ORPHA:220386
HP:0001510	Growth delay	6491	STIL	ORPHA:93926
HP:0001510	Growth delay	6491	STIL	ORPHA:93924
HP:0001510	Growth delay	6491	STIL	ORPHA:93925
HP:0001510	Growth delay	6491	STIL	ORPHA:220386
HP:0001510	Growth delay	6491	STIL	ORPHA:2512
HP:0001510	Growth delay	2619	GAS1	ORPHA:93926
HP:0001510	Growth delay	2619	GAS1	ORPHA:93924
HP:0001510	Growth delay	2619	GAS1	ORPHA:93925
HP:0001510	Growth delay	2619	GAS1	ORPHA:220386
HP:0001510	Growth delay	84976	DISP1	ORPHA:93926
HP:0001510	Growth delay	84976	DISP1	ORPHA:93924
HP:0001510	Growth delay	84976	DISP1	ORPHA:93925
HP:0001510	Growth delay	84976	DISP1	ORPHA:220386
HP:0001510	Growth delay	2736	GLI2	ORPHA:93926
HP:0001510	Growth delay	2736	GLI2	ORPHA:93924
HP:0001510	Growth delay	2736	GLI2	ORPHA:93925
HP:0001510	Growth delay	2736	GLI2	ORPHA:95494
HP:0001510	Growth delay	2736	GLI2	ORPHA:220386
HP:0001510	Growth delay	8928	FOXH1	ORPHA:93926
HP:0001510	Growth delay	8928	FOXH1	ORPHA:93924
HP:0001510	Growth delay	8928	FOXH1	ORPHA:93925
HP:0001510	Growth delay	8928	FOXH1	ORPHA:220386
HP:0001510	Growth delay	6997	CRIPTO	ORPHA:93926
HP:0001510	Growth delay	6997	CRIPTO	ORPHA:93924
HP:0001510	Growth delay	6997	CRIPTO	ORPHA:93925
HP:0001510	Growth delay	6997	CRIPTO	ORPHA:220386
HP:0001510	Growth delay	5727	PTCH1	ORPHA:93926
HP:0001510	Growth delay	5727	PTCH1	ORPHA:93924
HP:0001510	Growth delay	5727	PTCH1	ORPHA:93925
HP:0001510	Growth delay	5727	PTCH1	ORPHA:220386
HP:0001510	Growth delay	50937	CDON	ORPHA:93926
HP:0001510	Growth delay	50937	CDON	ORPHA:93924
HP:0001510	Growth delay	50937	CDON	ORPHA:93925
HP:0001510	Growth delay	50937	CDON	ORPHA:220386
HP:0001510	Growth delay	2260	FGFR1	ORPHA:93924
HP:0001510	Growth delay	2260	FGFR1	OMIM:166250
HP:0001510	Growth delay	2260	FGFR1	ORPHA:220386
HP:0001510	Growth delay	2260	FGFR1	OMIM:615465
HP:0001510	Growth delay	23007	PLCH1	ORPHA:93925
HP:0001510	Growth delay	10735	STAG2	ORPHA:93925
HP:0001510	Growth delay	10735	STAG2	ORPHA:220386
HP:0001510	Growth delay	89910	UBE3B	ORPHA:2707
HP:0001510	Growth delay	8642	DCHS1	OMIM:601390
HP:0001510	Growth delay	4929	NR4A2	ORPHA:1617
HP:0001510	Growth delay	10716	TBR1	ORPHA:1617
HP:0001510	Growth delay	1499	CTNNB1	ORPHA:54595
HP:0001510	Growth delay	1499	CTNNB1	OMIM:615075
HP:0001510	Growth delay	9056	SLC7A7	ORPHA:470
HP:0001510	Growth delay	2072	ERCC4	OMIM:615272
HP:0001510	Growth delay	2072	ERCC4	ORPHA:84
HP:0001510	Growth delay	1186	CLCN7	OMIM:618541
HP:0001510	Growth delay	1186	CLCN7	ORPHA:667
HP:0001510	Growth delay	1186	CLCN7	OMIM:611490
HP:0001510	Growth delay	10043	TOM1	OMIM:619510
HP:0001510	Growth delay	54880	BCOR	OMIM:309800
HP:0001510	Growth delay	8260	NAA10	OMIM:309800
HP:0001510	Growth delay	8260	NAA10	OMIM:300855
HP:0001510	Growth delay	3043	HBB	ORPHA:231214
HP:0001510	Growth delay	3043	HBB	ORPHA:231226
HP:0001510	Growth delay	142680	SLC34A3	OMIM:241530
HP:0001510	Growth delay	142680	SLC34A3	ORPHA:157215
HP:0001510	Growth delay	7862	BRPF1	OMIM:617333
HP:0001510	Growth delay	55699	IARS2	OMIM:616007
HP:0001510	Growth delay	8363	H4C11	OMIM:619759
HP:0001510	Growth delay	79633	FAT4	OMIM:616006
HP:0001510	Growth delay	79633	FAT4	OMIM:615546
HP:0001510	Growth delay	5295	PIK3R1	OMIM:616005
HP:0001510	Growth delay	9841	ZBTB24	OMIM:614069
HP:0001510	Growth delay	148867	SLC30A7	OMIM:620501
HP:0001510	Growth delay	8364	H4C3	OMIM:619758
HP:0001510	Growth delay	6899	TBX1	ORPHA:1727
HP:0001510	Growth delay	6134	RPL10	ORPHA:459070
HP:0001510	Growth delay	6134	RPL10	OMIM:300998
HP:0001510	Growth delay	286	ANK1	ORPHA:251066
HP:0001510	Growth delay	286	ANK1	ORPHA:822
HP:0001510	Growth delay	229	ALDOB	ORPHA:469
HP:0001510	Growth delay	4598	MVK	ORPHA:343
HP:0001510	Growth delay	554	AVPR2	ORPHA:223
HP:0001510	Growth delay	359	AQP2	ORPHA:223
HP:0001510	Growth delay	79991	STN1	OMIM:617341
HP:0001510	Growth delay	8314	BAP1	OMIM:619762
HP:0001510	Growth delay	7750	ZMYM2	OMIM:619522
HP:0001510	Growth delay	50485	SMARCAL1	ORPHA:1830
HP:0001510	Growth delay	50485	SMARCAL1	OMIM:242900
HP:0001510	Growth delay	56947	MFF	ORPHA:485421
HP:0001510	Growth delay	56947	MFF	OMIM:617086
HP:0001510	Growth delay	641	BLM	OMIM:210900
HP:0001510	Growth delay	641	BLM	ORPHA:125
HP:0001510	Growth delay	22	ABCB7	ORPHA:2802
HP:0001510	Growth delay	11261	CHP1	OMIM:618438
HP:0001510	Growth delay	6901	TAFAZZIN	OMIM:302060
HP:0001510	Growth delay	5354	PLP1	ORPHA:280229
HP:0001510	Growth delay	124583	CANT1	OMIM:251450
HP:0001510	Growth delay	23314	SATB2	ORPHA:576283
HP:0001510	Growth delay	23314	SATB2	ORPHA:251019
HP:0001510	Growth delay	9968	MED12	OMIM:301068
HP:0001510	Growth delay	3978	LIG1	OMIM:619774
HP:0001510	Growth delay	2189	FANCG	OMIM:614082
HP:0001510	Growth delay	2189	FANCG	ORPHA:84
HP:0001510	Growth delay	55120	FANCL	OMIM:614083
HP:0001510	Growth delay	55120	FANCL	ORPHA:84
HP:0001510	Growth delay	9319	TRIP13	OMIM:617598
HP:0001510	Growth delay	9319	TRIP13	ORPHA:1052
HP:0001510	Growth delay	1758	DMP1	ORPHA:289176
HP:0001510	Growth delay	5167	ENPP1	ORPHA:289176
HP:0001510	Growth delay	10463	SLC30A9	OMIM:617595
HP:0001510	Growth delay	8565	YARS1	OMIM:619418
HP:0001510	Growth delay	84168	ANTXR1	OMIM:230740
HP:0001510	Growth delay	84168	ANTXR1	ORPHA:2067
HP:0001510	Growth delay	51227	PIGP	OMIM:617599
HP:0001510	Growth delay	1585	CYP11B2	OMIM:610600
HP:0001510	Growth delay	1585	CYP11B2	OMIM:203400
HP:0001510	Growth delay	2316	FLNA	ORPHA:1826
HP:0001510	Growth delay	6885	MAP3K7	ORPHA:1826
HP:0001510	Growth delay	2184	FAH	OMIM:276700
HP:0001510	Growth delay	5836	PYGL	ORPHA:369
HP:0001510	Growth delay	6528	SLC5A5	OMIM:274400
HP:0001510	Growth delay	51311	TLR8	OMIM:301078
HP:0001510	Growth delay	9896	FIG4	OMIM:216340
HP:0001510	Growth delay	6138	RPL15	ORPHA:124
HP:0001510	Growth delay	6224	RPS20	ORPHA:124
HP:0001510	Growth delay	6165	RPL35A	ORPHA:124
HP:0001510	Growth delay	6132	RPL8	ORPHA:124
HP:0001510	Growth delay	6223	RPS19	ORPHA:124
HP:0001510	Growth delay	6232	RPS27	ORPHA:124
HP:0001510	Growth delay	55027	HEATR3	ORPHA:124
HP:0001510	Growth delay	6160	RPL31	ORPHA:124
HP:0001510	Growth delay	6201	RPS7	ORPHA:124
HP:0001510	Growth delay	6201	RPS7	OMIM:612563
HP:0001510	Growth delay	6155	RPL27	ORPHA:124
HP:0001510	Growth delay	6234	RPS28	ORPHA:124
HP:0001510	Growth delay	6135	RPL11	ORPHA:124
HP:0001510	Growth delay	6135	RPL11	OMIM:612562
HP:0001510	Growth delay	6229	RPS24	ORPHA:124
HP:0001510	Growth delay	6125	RPL5	ORPHA:124
HP:0001510	Growth delay	6125	RPL5	OMIM:612561
HP:0001510	Growth delay	6204	RPS10	ORPHA:124
HP:0001510	Growth delay	6204	RPS10	OMIM:613308
HP:0001510	Growth delay	2623	GATA1	ORPHA:124
HP:0001510	Growth delay	6133	RPL9	ORPHA:124
HP:0001510	Growth delay	6231	RPS26	ORPHA:124
HP:0001510	Growth delay	6231	RPS26	OMIM:613309
HP:0001510	Growth delay	11224	RPL35	ORPHA:124
HP:0001510	Growth delay	6218	RPS17	ORPHA:124
HP:0001510	Growth delay	6218	RPS17	OMIM:612527
HP:0001510	Growth delay	6154	RPL26	ORPHA:124
HP:0001510	Growth delay	6210	RPS15A	ORPHA:124
HP:0001510	Growth delay	90121	TSR2	ORPHA:124
HP:0001510	Growth delay	6141	RPL18	ORPHA:124
HP:0001510	Growth delay	6235	RPS29	ORPHA:124
HP:0001510	Growth delay	51816	ADA2	ORPHA:124
HP:0001510	Growth delay	6595	SMARCA2	OMIM:601358
HP:0001510	Growth delay	81704	DOCK8	OMIM:243700
HP:0001510	Growth delay	2629	GBA1	ORPHA:77261
HP:0001510	Growth delay	2629	GBA1	ORPHA:77259
HP:0001510	Growth delay	2629	GBA1	ORPHA:2072
HP:0001510	Growth delay	10533	ATG7	OMIM:619422
HP:0001510	Growth delay	81570	CLPB	OMIM:616271
HP:0001510	Growth delay	81570	CLPB	ORPHA:445038
HP:0001510	Growth delay	5888	RAD51	OMIM:617244
HP:0001510	Growth delay	5888	RAD51	ORPHA:84
HP:0001510	Growth delay	5256	PHKA2	ORPHA:264580
HP:0001510	Growth delay	5256	PHKA2	OMIM:306000
HP:0001510	Growth delay	5261	PHKG2	ORPHA:264580
HP:0001510	Growth delay	5261	PHKG2	OMIM:613027
HP:0001510	Growth delay	84188	FAR1	OMIM:616154
HP:0001510	Growth delay	84188	FAR1	ORPHA:438178
HP:0001510	Growth delay	7201	TRHR	OMIM:618573
HP:0001510	Growth delay	7201	TRHR	ORPHA:99832
HP:0001510	Growth delay	3000	GUCY2D	OMIM:204000
HP:0001510	Growth delay	27429	HTRA2	OMIM:617248
HP:0001510	Growth delay	221078	NSUN6	OMIM:620779
HP:0001510	Growth delay	7516	XRCC2	OMIM:617247
HP:0001510	Growth delay	7516	XRCC2	ORPHA:84
HP:0001510	Growth delay	7227	TRPS1	OMIM:190350
HP:0001510	Growth delay	7227	TRPS1	ORPHA:502
HP:0001510	Growth delay	51013	EXOSC1	OMIM:619304
HP:0001510	Growth delay	81603	TRIM8	OMIM:619428
HP:0001510	Growth delay	389827	MYMK	OMIM:254940
HP:0001510	Growth delay	389827	MYMK	ORPHA:1358
HP:0001510	Growth delay	2902	GRIN1	ORPHA:208447
HP:0001510	Growth delay	5626	PROP1	ORPHA:90695
HP:0001510	Growth delay	5626	PROP1	ORPHA:226307
HP:0001510	Growth delay	5626	PROP1	ORPHA:95494
HP:0001510	Growth delay	6658	SOX3	ORPHA:90695
HP:0001510	Growth delay	950	SCARB2	ORPHA:77259
HP:0001510	Growth delay	3480	IGF1R	ORPHA:73273
HP:0001510	Growth delay	3480	IGF1R	OMIM:270450
HP:0001510	Growth delay	9488	PIGB	OMIM:618580
HP:0001510	Growth delay	5076	PAX2	ORPHA:97362
HP:0001510	Growth delay	5087	PBX1	ORPHA:97362
HP:0001510	Growth delay	5087	PBX1	OMIM:617641
HP:0001510	Growth delay	2187	FANCB	OMIM:300514
HP:0001510	Growth delay	2187	FANCB	ORPHA:84
HP:0001510	Growth delay	51728	POLR3K	OMIM:619310
HP:0001510	Growth delay	10785	WDR4	OMIM:618347
HP:0001510	Growth delay	4719	NDUFS1	OMIM:618226
HP:0001510	Growth delay	55628	ZNF407	OMIM:619557
HP:0001510	Growth delay	79813	EHMT1	ORPHA:96147
HP:0001510	Growth delay	2690	GHR	ORPHA:314802
HP:0001510	Growth delay	170302	ARX	OMIM:308350
HP:0001510	Growth delay	10312	TCIRG1	ORPHA:667
HP:0001510	Growth delay	29887	SNX10	ORPHA:667
HP:0001510	Growth delay	8600	TNFSF11	ORPHA:667
HP:0001510	Growth delay	5308	PITX2	ORPHA:782
HP:0001510	Growth delay	2296	FOXC1	ORPHA:782
HP:0001510	Growth delay	56945	MRPS22	OMIM:611719
HP:0001510	Growth delay	10165	SLC25A13	OMIM:605814
HP:0001510	Growth delay	6792	CDKL5	ORPHA:3095
HP:0001510	Growth delay	6792	CDKL5	ORPHA:505652
HP:0001510	Growth delay	22854	NTNG1	ORPHA:3095
HP:0001510	Growth delay	9568	GABBR2	ORPHA:3095
HP:0001510	Growth delay	4204	MECP2	ORPHA:3095
HP:0001510	Growth delay	4204	MECP2	ORPHA:778
HP:0001510	Growth delay	4204	MECP2	OMIM:300260
HP:0001510	Growth delay	4204	MECP2	ORPHA:209370
HP:0001510	Growth delay	8243	SMC1A	ORPHA:3095
HP:0001510	Growth delay	8243	SMC1A	OMIM:301044
HP:0001510	Growth delay	8243	SMC1A	ORPHA:220386
HP:0001510	Growth delay	221496	LEMD2	OMIM:619322
HP:0001510	Growth delay	1387	CREBBP	ORPHA:353281
HP:0001510	Growth delay	1387	CREBBP	OMIM:180849
HP:0001510	Growth delay	6651	SON	OMIM:617140
HP:0001510	Growth delay	10978	CLP1	ORPHA:411493
HP:0001510	Growth delay	10978	CLP1	OMIM:615803
HP:0001510	Growth delay	22861	NLRP1	OMIM:617388
HP:0001510	Growth delay	6905	TBCE	ORPHA:496756
HP:0001510	Growth delay	6905	TBCE	ORPHA:93324
HP:0001510	Growth delay	79048	SECISBP2	ORPHA:171706
HP:0001510	Growth delay	2068	ERCC2	OMIM:610756
HP:0001510	Growth delay	2710	GK	OMIM:307030
HP:0001510	Growth delay	3417	IDH1	ORPHA:99646
HP:0001510	Growth delay	3417	IDH1	ORPHA:163634
HP:0001510	Growth delay	6904	TBCD	ORPHA:496641
HP:0001510	Growth delay	6904	TBCD	OMIM:617193
HP:0001510	Growth delay	55967	NDUFA12	OMIM:618244
HP:0001510	Growth delay	56915	EXOSC5	OMIM:619576
HP:0001510	Growth delay	51132	RLIM	OMIM:300978
HP:0001510	Growth delay	4125	MAN2B1	OMIM:248500
HP:0001510	Growth delay	80224	NUBPL	OMIM:618242
HP:0001510	Growth delay	50619	DEF6	OMIM:619573
HP:0001510	Growth delay	7965	AIMP2	OMIM:618006
HP:0001510	Growth delay	3376	IARS1	ORPHA:541423
HP:0001510	Growth delay	9820	CUL7	OMIM:273750
HP:0001510	Growth delay	1280	COL2A1	ORPHA:94068
HP:0001510	Growth delay	4141	MARS1	OMIM:620323
HP:0001510	Growth delay	55750	AGK	OMIM:212350
HP:0001510	Growth delay	80324	PUS1	OMIM:600462
HP:0001510	Growth delay	23111	SPART	ORPHA:101000
HP:0001510	Growth delay	191	AHCY	ORPHA:88618
HP:0001510	Growth delay	5631	PRPS1	OMIM:301835
HP:0001510	Growth delay	8802	SUCLG1	ORPHA:17
HP:0001510	Growth delay	8802	SUCLG1	OMIM:245400
HP:0001510	Growth delay	5283	PIGH	OMIM:618010
HP:0001510	Growth delay	4548	MTR	OMIM:250940
HP:0001510	Growth delay	55186	SLC25A36	OMIM:620211
HP:0001510	Growth delay	2737	GLI3	OMIM:146510
HP:0001510	Growth delay	2737	GLI3	OMIM:174200
HP:0001510	Growth delay	6697	SPR	OMIM:612716
HP:0001510	Growth delay	6697	SPR	ORPHA:70594
HP:0001510	Growth delay	11285	B4GALT7	ORPHA:75496
HP:0001510	Growth delay	84265	POLR3GL	OMIM:619234
HP:0001510	Growth delay	2290	FOXG1	ORPHA:261144
HP:0001510	Growth delay	3852	KRT5	OMIM:619599
HP:0001510	Growth delay	3852	KRT5	OMIM:131760
HP:0001510	Growth delay	3852	KRT5	ORPHA:79396
HP:0001510	Growth delay	51095	TRNT1	OMIM:616084
HP:0001510	Growth delay	2033	EP300	OMIM:180849
HP:0001510	Growth delay	31	ACACA	OMIM:613933
HP:0001510	Growth delay	5781	PTPN11	ORPHA:500
HP:0001510	Growth delay	5894	RAF1	ORPHA:500
HP:0001510	Growth delay	2131	EXT1	ORPHA:502
HP:0001510	Growth delay	5885	RAD21	ORPHA:502
HP:0001510	Growth delay	405753	DUOXA2	OMIM:274900
HP:0001510	Growth delay	51360	MBTPS2	OMIM:308205
HP:0001510	Growth delay	51360	MBTPS2	ORPHA:85284
HP:0001510	Growth delay	51360	MBTPS2	ORPHA:2273
HP:0001510	Growth delay	136647	MPLKIP	OMIM:234050
HP:0001510	Growth delay	285590	SH3PXD2B	OMIM:249420
HP:0001510	Growth delay	8318	CDC45	OMIM:617063
HP:0001510	Growth delay	8318	CDC45	ORPHA:2554
HP:0001510	Growth delay	55755	CDK5RAP2	OMIM:604804
HP:0001510	Growth delay	55755	CDK5RAP2	ORPHA:2512
HP:0001510	Growth delay	6472	SHMT2	OMIM:619121
HP:0001510	Growth delay	6514	SLC2A2	ORPHA:2088
HP:0001510	Growth delay	64093	SMOC1	OMIM:206920
HP:0001510	Growth delay	4645	MYO5B	OMIM:251850
HP:0001510	Growth delay	6663	SOX10	OMIM:609136
HP:0001510	Growth delay	5080	PAX6	OMIM:120200
HP:0001510	Growth delay	199221	DZIP1L	ORPHA:731
HP:0001510	Growth delay	5314	PKHD1	ORPHA:731
HP:0001510	Growth delay	3988	LIPA	ORPHA:75233
HP:0001510	Growth delay	3090	HIC1	ORPHA:531
HP:0001510	Growth delay	5048	PAFAH1B1	ORPHA:531
HP:0001510	Growth delay	7531	YWHAE	ORPHA:531
HP:0001510	Growth delay	6569	SLC34A1	ORPHA:157215
HP:0001510	Growth delay	6569	SLC34A1	ORPHA:3337
HP:0001510	Growth delay	3739	KCNA4	OMIM:618284
HP:0001510	Growth delay	7157	TP53	OMIM:618165
HP:0001510	Growth delay	131118	DNAJC19	ORPHA:66634
HP:0001510	Growth delay	8481	OFD1	OMIM:300804
HP:0001510	Growth delay	8481	OFD1	ORPHA:2754
HP:0001510	Growth delay	5236	PGM1	OMIM:614921
HP:0001510	Growth delay	84464	SLX4	OMIM:613951
HP:0001510	Growth delay	84464	SLX4	ORPHA:84
HP:0001510	Growth delay	92344	GORAB	ORPHA:2078
HP:0001510	Growth delay	5831	PYCR1	ORPHA:2078
HP:0001510	Growth delay	1968	EIF2S3	ORPHA:85282
HP:0001510	Growth delay	81615	TMEM163	OMIM:620243
HP:0001510	Growth delay	23522	KAT6B	ORPHA:3047
HP:0001510	Growth delay	64131	XYLT1	ORPHA:370930
HP:0001510	Growth delay	64802	NMNAT1	OMIM:619260
HP:0001510	Growth delay	5965	RECQL	OMIM:620370
HP:0001510	Growth delay	4914	NTRK1	ORPHA:642
HP:0001510	Growth delay	389434	IYD	OMIM:274800
HP:0001510	Growth delay	50617	ATP6V0A4	OMIM:602722
HP:0001510	Growth delay	5257	PHKB	OMIM:261750
HP:0001510	Growth delay	1604	CD55	OMIM:226300
HP:0001510	Growth delay	3735	KARS1	OMIM:619147
HP:0001510	Growth delay	3735	KARS1	ORPHA:3240
HP:0001510	Growth delay	84842	HPDL	OMIM:619026
HP:0001510	Growth delay	375056	MIA3	OMIM:619269
HP:0001510	Growth delay	87178	PNPT1	OMIM:614932
HP:0001510	Growth delay	6559	SLC12A3	OMIM:263800
HP:0001510	Growth delay	3708	ITPR1	OMIM:206700
HP:0001510	Growth delay	2693	GHSR	ORPHA:314811
HP:0001510	Growth delay	5696	PSMB8	OMIM:256040
HP:0001510	Growth delay	25886	POC1A	OMIM:614813
HP:0001510	Growth delay	8085	KMT2D	OMIM:147920
HP:0001510	Growth delay	7403	KDM6A	OMIM:147920
HP:0001510	Growth delay	4702	NDUFA8	OMIM:619272
HP:0001510	Growth delay	4594	MMUT	ORPHA:289916
HP:0001510	Growth delay	158	ADSL	OMIM:103050
HP:0001510	Growth delay	4621	MYH3	ORPHA:2053
HP:0001510	Growth delay	259232	NALCN	ORPHA:2053
HP:0001510	Growth delay	144811	LACC1	ORPHA:85414
HP:0001510	Growth delay	4282	MIF	ORPHA:85414
HP:0001510	Growth delay	3123	HLA-DRB1	ORPHA:85414
HP:0001510	Growth delay	3569	IL6	ORPHA:85414
HP:0001510	Growth delay	3569	IL6	OMIM:266600
HP:0001510	Growth delay	3861	KRT14	OMIM:131760
HP:0001510	Growth delay	3861	KRT14	ORPHA:79396
HP:0001510	Growth delay	118429	ANTXR2	ORPHA:2176
HP:0001510	Growth delay	987	LRBA	OMIM:614700
HP:0001510	Growth delay	7518	XRCC4	ORPHA:99812
HP:0001510	Growth delay	3981	LIG4	ORPHA:99812
HP:0001510	Growth delay	55777	MBD5	ORPHA:228402
HP:0001510	Growth delay	3291	HSD11B2	OMIM:218030
HP:0001510	Growth delay	10667	FARS2	OMIM:614946
HP:0001510	Growth delay	2038	EPB42	ORPHA:822
HP:0001510	Growth delay	6521	SLC4A1	ORPHA:822
HP:0001510	Growth delay	6710	SPTB	ORPHA:822
HP:0001510	Growth delay	6708	SPTA1	ORPHA:822
HP:0001510	Growth delay	4784	NFIX	ORPHA:447980
HP:0001510	Growth delay	4281	MID1	OMIM:300000
HP:0001510	Growth delay	374654	KIF7	OMIM:200990
HP:0001510	Growth delay	374654	KIF7	ORPHA:2754
HP:0001510	Growth delay	613	BCR	ORPHA:261330
HP:0001510	Growth delay	1399	CRKL	ORPHA:261330
HP:0001510	Growth delay	5594	MAPK1	ORPHA:261330
HP:0001510	Growth delay	23149	FCHO1	OMIM:619164
HP:0001510	Growth delay	51506	UFC1	OMIM:618076
HP:0001510	Growth delay	644096	SDHAF1	OMIM:619166
HP:0001510	Growth delay	55651	NHP2	OMIM:613987
HP:0001510	Growth delay	10847	SRCAP	ORPHA:2044
HP:0001510	Growth delay	1717	DHCR7	ORPHA:818
HP:0001510	Growth delay	1717	DHCR7	OMIM:270400
HP:0001510	Growth delay	150468	CKAP2L	ORPHA:3255
HP:0001510	Growth delay	64324	NSD1	ORPHA:228415
HP:0001510	Growth delay	26153	KIF26A	OMIM:620156
HP:0001510	Growth delay	134218	DNAJC21	ORPHA:811
HP:0001510	Growth delay	79631	EFL1	ORPHA:811
HP:0001510	Growth delay	51119	SBDS	ORPHA:811
HP:0001510	Growth delay	4868	NPHS1	OMIM:256300
HP:0001510	Growth delay	25839	COG4	ORPHA:263501
HP:0001510	Growth delay	84992	PIGY	ORPHA:247262
HP:0001510	Growth delay	84992	PIGY	OMIM:616809
HP:0001510	Growth delay	84720	PIGO	ORPHA:247262
HP:0001510	Growth delay	84720	PIGO	OMIM:614749
HP:0001510	Growth delay	93210	PGAP3	ORPHA:247262
HP:0001510	Growth delay	93210	PGAP3	OMIM:615716
HP:0001510	Growth delay	284098	PIGW	ORPHA:247262
HP:0001510	Growth delay	27315	PGAP2	ORPHA:247262
HP:0001510	Growth delay	55650	PIGV	ORPHA:247262
HP:0001510	Growth delay	9487	PIGL	ORPHA:247262
HP:0001510	Growth delay	26277	TINF2	OMIM:613990
HP:0001510	Growth delay	55037	PTCD3	OMIM:619057
HP:0001510	Growth delay	3483	IGFALS	ORPHA:140941
HP:0001510	Growth delay	2538	G6PC1	OMIM:232200
HP:0001510	Growth delay	92579	G6PC3	OMIM:612541
HP:0001510	Growth delay	8792	TNFRSF11A	OMIM:612301
HP:0001510	Growth delay	55858	TMEM165	OMIM:614727
HP:0001510	Growth delay	10908	PNPLA6	ORPHA:3363
HP:0001510	Growth delay	672	BRCA1	ORPHA:84
HP:0001510	Growth delay	10459	MAD2L2	ORPHA:84
HP:0001510	Growth delay	29089	UBE2T	ORPHA:84
HP:0001510	Growth delay	675	BRCA2	ORPHA:84
HP:0001510	Growth delay	2177	FANCD2	ORPHA:84
HP:0001510	Growth delay	2175	FANCA	ORPHA:84
HP:0001510	Growth delay	2176	FANCC	ORPHA:84
HP:0001510	Growth delay	2178	FANCE	ORPHA:84
HP:0001510	Growth delay	2188	FANCF	ORPHA:84
HP:0001510	Growth delay	5889	RAD51C	ORPHA:84
HP:0001510	Growth delay	83990	BRIP1	ORPHA:84
HP:0001510	Growth delay	57697	FANCM	ORPHA:84
HP:0001510	Growth delay	79728	PALB2	ORPHA:84
HP:0001510	Growth delay	55215	FANCI	ORPHA:84
HP:0001510	Growth delay	7080	NKX2-1	ORPHA:209905
HP:0001510	Growth delay	7080	NKX2-1	ORPHA:95713
HP:0001510	Growth delay	7466	WFS1	OMIM:222300
HP:0001510	Growth delay	9184	BUB3	ORPHA:1052
HP:0001510	Growth delay	699	BUB1	ORPHA:1052
HP:0001510	Growth delay	9702	CEP57	ORPHA:1052
HP:0001510	Growth delay	9702	CEP57	OMIM:614114
HP:0001510	Growth delay	701	BUB1B	ORPHA:1052
HP:0001510	Growth delay	132158	GLYCTK	OMIM:220120
HP:0001510	Growth delay	23036	ZNF292	OMIM:619188
HP:0001510	Growth delay	4591	TRIM37	OMIM:253250
HP:0001510	Growth delay	4338	MOCS2	OMIM:252160
HP:0001510	Growth delay	25942	SIN3A	OMIM:613406
HP:0001510	Growth delay	526	ATP6V1B2	ORPHA:3473
HP:0001510	Growth delay	3756	KCNH1	ORPHA:3473
HP:0001510	Growth delay	3782	KCNN3	ORPHA:3473
HP:0001510	Growth delay	7468	NSD2	OMIM:194190
HP:0001510	Growth delay	10815	CPLX1	OMIM:194190
HP:0001510	Growth delay	1487	CTBP1	OMIM:194190
HP:0001510	Growth delay	53834	FGFRL1	OMIM:194190
HP:0001510	Growth delay	3954	LETM1	OMIM:194190
HP:0001510	Growth delay	374393	FAM111B	OMIM:615704
HP:0001510	Growth delay	5826	ABCD4	OMIM:614857
HP:0001510	Growth delay	8517	IKBKG	ORPHA:98813
HP:0001510	Growth delay	4792	NFKBIA	ORPHA:98813
HP:0001510	Growth delay	1174	AP1S1	OMIM:609313
HP:0001510	Growth delay	3425	IDUA	OMIM:607015
HP:0001510	Growth delay	3425	IDUA	ORPHA:93473
HP:0001510	Growth delay	1588	CYP19A1	ORPHA:91
HP:0001510	Growth delay	3192	HNRNPU	ORPHA:238769
HP:0001510	Growth delay	1576	CYP3A4	OMIM:619073
HP:0001510	Growth delay	1727	CYB5R3	OMIM:250800
HP:0001510	Growth delay	5251	PHEX	ORPHA:89936
HP:0001510	Growth delay	8074	FGF23	ORPHA:89937
HP:0001510	Growth delay	56006	SMG9	OMIM:616920
HP:0001510	Growth delay	89884	LHX4	ORPHA:226307
HP:0001510	Growth delay	89884	LHX4	ORPHA:95494
HP:0001510	Growth delay	8022	LHX3	ORPHA:226307
HP:0001510	Growth delay	5449	POU1F1	ORPHA:226307
HP:0001510	Growth delay	5449	POU1F1	ORPHA:95494
HP:0001510	Growth delay	8820	HESX1	ORPHA:226307
HP:0001510	Growth delay	8820	HESX1	ORPHA:95494
HP:0001510	Growth delay	2073	ERCC5	OMIM:278780
HP:0001510	Growth delay	10056	FARSB	OMIM:613658
HP:0001510	Growth delay	3170	FOXA2	ORPHA:95494
HP:0001510	Growth delay	5015	OTX2	ORPHA:95494
HP:0001510	Growth delay	26227	PHGDH	OMIM:601815
HP:0001510	Growth delay	10472	ZBTB18	OMIM:612337
HP:0001510	Growth delay	1811	SLC26A3	OMIM:214700
HP:0001510	Growth delay	51128	SAR1B	ORPHA:71
HP:0001510	Growth delay	51128	SAR1B	OMIM:246700
HP:0001510	Growth delay	84919	PPP1R15B	OMIM:616817
HP:0001510	Growth delay	388015	RTL1	ORPHA:96334
HP:0001510	Growth delay	8788	DLK1	ORPHA:96334
HP:0001510	Growth delay	55384	MEG3	ORPHA:96334
HP:0001510	Growth delay	1962	EHHADH	OMIM:615605
HP:0001510	Growth delay	1962	EHHADH	ORPHA:3337
HP:0001510	Growth delay	114548	NLRP3	OMIM:607115
HP:0001510	Growth delay	114548	NLRP3	ORPHA:1451
HP:0001510	Growth delay	11128	POLR3A	ORPHA:3455
HP:0001510	Growth delay	4867	NPHP1	OMIM:256100
HP:0001510	Growth delay	2628	GATM	ORPHA:3337
HP:0001510	Growth delay	137682	NDUFAF6	ORPHA:3337
HP:0001510	Growth delay	91147	TMEM67	OMIM:613550
HP:0001510	Growth delay	91147	TMEM67	OMIM:216360
HP:0001510	Growth delay	50628	GEMIN4	OMIM:617913
HP:0001510	Growth delay	5824	PEX19	OMIM:614886
HP:0001510	Growth delay	117581	TWIST2	ORPHA:920
HP:0001510	Growth delay	28962	OSTM1	OMIM:259720
HP:0001510	Growth delay	226	ALDOA	ORPHA:57
HP:0001510	Growth delay	51067	YARS2	OMIM:613561
HP:0001510	Growth delay	667	DST	OMIM:614653
HP:0001510	Growth delay	6664	SOX11	OMIM:615866
HP:0001510	Growth delay	6664	SOX11	ORPHA:1465
HP:0001510	Growth delay	63895	PIEZO2	ORPHA:2461
HP:0001510	Growth delay	1828	DSG1	OMIM:615508
HP:0001510	Growth delay	5830	PEX5	OMIM:616716
HP:0001510	Growth delay	9663	LPIN2	OMIM:609628
HP:0001510	Growth delay	51062	ATL1	ORPHA:100984
HP:0001510	Growth delay	91949	COG7	OMIM:608779
HP:0001510	Growth delay	22856	CHSY1	ORPHA:363417
HP:0001510	Growth delay	3033	HADH	OMIM:231530
HP:0001510	Growth delay	5122	PCSK1	ORPHA:71528
HP:0001510	Growth delay	5648	MASP1	OMIM:257920
HP:0001510	Growth delay	657	BMPR1A	ORPHA:329971
HP:0001510	Growth delay	4089	SMAD4	ORPHA:329971
HP:0001510	Growth delay	2022	ENG	ORPHA:329971
HP:0001510	Growth delay	84529	CDIN1	OMIM:615631
HP:0001510	Growth delay	65062	TMEM237	OMIM:614424
HP:0001510	Growth delay	5443	POMC	ORPHA:71526
HP:0001510	Growth delay	546	ATRX	OMIM:301040
HP:0001510	Growth delay	59341	TRPV4	ORPHA:93314
HP:0001510	Growth delay	79650	USB1	OMIM:604173
HP:0001510	Growth delay	1806	DPYD	OMIM:274270
HP:0001510	Growth delay	55784	MCTP2	ORPHA:1596
HP:0001510	Growth delay	5429	POLH	OMIM:278750
HP:0001510	Growth delay	51010	EXOSC3	OMIM:614678
HP:0001510	Growth delay	59067	IL21	OMIM:615767
HP:0001510	Growth delay	6513	SLC2A1	OMIM:608885
HP:0001510	Growth delay	5053	PAH	ORPHA:79254
HP:0001510	Growth delay	54820	NDE1	OMIM:605013
HP:0001510	Growth delay	54820	NDE1	OMIM:614019
HP:0001510	Growth delay	79840	NHEJ1	ORPHA:169079
HP:0001510	Growth delay	7253	TSHR	ORPHA:95720
HP:0001510	Growth delay	7253	TSHR	ORPHA:95713
HP:0001510	Growth delay	5172	SLC26A4	ORPHA:95720
HP:0001510	Growth delay	5172	SLC26A4	ORPHA:95713
HP:0001510	Growth delay	2542	SLC37A4	ORPHA:79259
HP:0001510	Growth delay	101929726	MYMX	ORPHA:1358
HP:0001510	Growth delay	6657	SOX2	ORPHA:77298
HP:0001510	Growth delay	8671	SLC4A4	OMIM:604278
HP:0001510	Growth delay	10841	FTCD	OMIM:229100
HP:0001510	Growth delay	9401	RECQL4	ORPHA:1225
HP:0001510	Growth delay	9401	RECQL4	ORPHA:221016
HP:0001510	Growth delay	6597	SMARCA4	ORPHA:1465
HP:0001510	Growth delay	6598	SMARCB1	ORPHA:1465
HP:0001510	Growth delay	6659	SOX4	ORPHA:1465
HP:0001510	Growth delay	8289	ARID1A	ORPHA:1465
HP:0001510	Growth delay	5977	DPF2	ORPHA:1465
HP:0001510	Growth delay	6601	SMARCC2	ORPHA:1465
HP:0001510	Growth delay	6602	SMARCD1	ORPHA:1465
HP:0001510	Growth delay	57492	ARID1B	ORPHA:1465
HP:0001510	Growth delay	196528	ARID2	ORPHA:1465
HP:0001510	Growth delay	6605	SMARCE1	ORPHA:1465
HP:0001510	Growth delay	2304	FOXE1	ORPHA:95713
HP:0001510	Growth delay	51741	WWOX	OMIM:614322
HP:0001510	Growth delay	4358	MPV17	OMIM:256810
HP:0001510	Growth delay	10616	RBCK1	OMIM:615895
HP:0001510	Growth delay	83987	CCDC8	OMIM:614205
HP:0001510	Growth delay	3141	HLCS	ORPHA:79242
HP:0001510	Growth delay	81620	CDT1	ORPHA:2554
HP:0001510	Growth delay	5000	ORC4	ORPHA:2554
HP:0001510	Growth delay	23594	ORC6	ORPHA:2554
HP:0001510	Growth delay	990	CDC6	ORPHA:2554
HP:0001510	Growth delay	4998	ORC1	ORPHA:2554
HP:0001510	Growth delay	51053	GMNN	ORPHA:2554
HP:0001510	Growth delay	54539	NDUFB11	ORPHA:2556
HP:0001510	Growth delay	1349	COX7B	ORPHA:2556
HP:0001510	Growth delay	3052	HCCS	ORPHA:2556
HP:0001510	Growth delay	5422	POLA1	OMIM:301030
HP:0001510	Growth delay	64127	NOD2	OMIM:266600
HP:0001510	Growth delay	7067	THRA	OMIM:614450
HP:0001510	Growth delay	57511	COG6	OMIM:614576
HP:0001510	Growth delay	7421	VDR	OMIM:277440
HP:0001510	Growth delay	1729	DIAPH1	OMIM:616632
HP:0001510	Growth delay	6785	ELOVL4	OMIM:614457
HP:0001510	Growth delay	3418	IDH2	ORPHA:163634
HP:0001510	Growth delay	2313	FLI1	ORPHA:2308
HP:0001510	Growth delay	7074	TIAM1	OMIM:619908
HP:0001510	Growth delay	59344	ALOXE3	OMIM:242100
HP:0001510	Growth delay	242	ALOX12B	OMIM:242100
HP:0001510	Growth delay	2464	FRA16E	OMIM:136570
HP:0001510	Growth delay	10269	ZMPSTE24	OMIM:608612
HP:0001510	Growth delay	11019	LIAS	OMIM:614462
HP:0001510	Growth delay	10367	MICU1	OMIM:615673
HP:0001510	Growth delay	55180	LINS1	OMIM:614340
HP:0001510	Growth delay	81689	ISCA1	OMIM:617613
HP:0001510	Growth delay	1861	TOR1A	OMIM:618947
HP:0001510	Growth delay	4337	MOCS1	OMIM:252150
HP:0001510	Growth delay	6925	TCF4	ORPHA:2896
HP:0001510	Growth delay	26503	SLC17A5	OMIM:604369
HP:0001510	Growth delay	1718	DHCR24	ORPHA:35107
HP:0001510	Growth delay	4780	NFE2L2	OMIM:617744
HP:0001510	Growth delay	4190	MDH1	OMIM:618959
HP:0001510	Growth delay	3587	IL10RA	OMIM:613148
HP:0001510	Growth delay	6519	SLC3A1	ORPHA:163690
HP:0001510	Growth delay	6519	SLC3A1	ORPHA:163693
HP:0001510	Growth delay	9581	PREPL	ORPHA:163690
HP:0001510	Growth delay	9581	PREPL	ORPHA:163693
HP:0001510	Growth delay	5456	POU3F4	ORPHA:1435
HP:0001510	Growth delay	55691	FRMD4A	ORPHA:466688
HP:0001510	Growth delay	5495	PPM1B	ORPHA:163693
HP:0001510	Growth delay	79823	CAMKMT	ORPHA:163693
HP:0001510	Growth delay	1537	CYC1	OMIM:615453
HP:0001510	Growth delay	551	AVP	ORPHA:30925
HP:0001510	Growth delay	1284	COL4A2	OMIM:614483
HP:0001510	Growth delay	4724	NDUFS4	OMIM:252010
HP:0001510	Growth delay	8815	BANF1	OMIM:614008
HP:0001510	Growth delay	25974	MMACHC	ORPHA:79282
HP:0001510	Growth delay	55788	LMBRD1	ORPHA:79284
HP:0001510	Growth delay	1807	DPYS	OMIM:222748
HP:0001510	Growth delay	26123	TCTN3	ORPHA:2753
HP:0001510	Growth delay	26123	TCTN3	ORPHA:2754
HP:0001510	Growth delay	71	ACTG1	ORPHA:2995
HP:0001510	Growth delay	60	ACTB	ORPHA:2995
HP:0001510	Growth delay	9451	EIF2AK3	ORPHA:1667
HP:0001510	Growth delay	79583	TMEM231	ORPHA:2754
HP:0001510	Growth delay	10210	TOPORS	ORPHA:2754
HP:0001510	Growth delay	9851	KIAA0753	ORPHA:2754
HP:0001510	Growth delay	5147	PDE6D	ORPHA:2754
HP:0001510	Growth delay	65250	CPLANE1	ORPHA:2754
HP:0001510	Growth delay	51259	TMEM216	ORPHA:2754
HP:0001510	Growth delay	317662	FAM149B1	ORPHA:2754
HP:0001510	Growth delay	9276	COPB2	ORPHA:2512
HP:0001510	Growth delay	11113	CIT	ORPHA:2512
HP:0001510	Growth delay	9928	KIF14	ORPHA:2512
HP:0001510	Growth delay	22995	CEP152	ORPHA:2512
HP:0001510	Growth delay	284403	WDR62	ORPHA:2512
HP:0001510	Growth delay	55262	TRAPPC14	ORPHA:2512
HP:0001510	Growth delay	163786	SASS6	ORPHA:2512
HP:0001510	Growth delay	29920	PYCR2	ORPHA:2512
HP:0001510	Growth delay	84879	MFSD2A	ORPHA:2512
HP:0001510	Growth delay	4176	MCM7	ORPHA:2512
HP:0001510	Growth delay	80254	CEP63	ORPHA:2512
HP:0001510	Growth delay	29081	METTL5	ORPHA:2512
HP:0001510	Growth delay	79023	NUP37	ORPHA:2512
HP:0001510	Growth delay	23310	NCAPD3	ORPHA:2512
HP:0001510	Growth delay	6301	SARS1	ORPHA:2512
HP:0001510	Growth delay	79648	MCPH1	ORPHA:2512
HP:0001510	Growth delay	23141	ANKLE2	ORPHA:2512
HP:0001510	Growth delay	259266	ASPM	ORPHA:2512
HP:0001510	Growth delay	7109	TRAPPC10	ORPHA:2512
HP:0001510	Growth delay	7453	WARS1	ORPHA:2512
HP:0001510	Growth delay	1911	PHC1	ORPHA:2512
HP:0001510	Growth delay	1062	CENPE	ORPHA:2512
HP:0001510	Growth delay	6884	TAF13	ORPHA:2512
HP:0001510	Growth delay	9662	CEP135	ORPHA:2512
HP:0001510	Growth delay	57082	KNL1	ORPHA:2512
HP:0001510	Growth delay	1021	CDK6	ORPHA:2512
HP:0001510	Growth delay	7043	TGFB3	OMIM:615582
HP:0001510	Growth delay	22827	PUF60	OMIM:615583
HP:0001510	Growth delay	10892	MALT1	OMIM:615468
HP:0001510	Growth delay	54361	WNT4	ORPHA:139466
HP:0001510	Growth delay	1794	DOCK2	OMIM:616433
HP:0001510	Growth delay	57728	WDR19	OMIM:614377
HP:0001510	Growth delay	58508	KMT2C	OMIM:617768
HP:0001510	Growth delay	63901	FAM111A	ORPHA:93325
HP:0001510	Growth delay	3762	KCNJ5	ORPHA:37553
HP:0001510	Growth delay	3759	KCNJ2	ORPHA:37553
HP:0001510	Growth delay	64682	ANAPC1	ORPHA:221008
HP:0001510	Growth delay	7528	YY1	ORPHA:506358
HP:0001510	Growth delay	7528	YY1	OMIM:617557
HP:0001510	Growth delay	3651	PDX1	OMIM:260370
HP:0001510	Growth delay	3651	PDX1	ORPHA:552
HP:0001510	Growth delay	3651	PDX1	ORPHA:99885
HP:0001510	Growth delay	2218	FKTN	ORPHA:272
HP:0001510	Growth delay	25915	NDUFAF3	ORPHA:2609
HP:0001510	Growth delay	51103	NDUFAF1	ORPHA:2609
HP:0001510	Growth delay	91942	NDUFAF2	ORPHA:2609
HP:0001510	Growth delay	51300	TIMMDC1	ORPHA:2609
HP:0001510	Growth delay	4716	NDUFB10	ORPHA:2609
HP:0001510	Growth delay	4716	NDUFB10	OMIM:619003
HP:0001510	Growth delay	4723	NDUFV1	ORPHA:2609
HP:0001510	Growth delay	55572	FOXRED1	ORPHA:2609
HP:0001510	Growth delay	284184	NDUFAF8	ORPHA:2609
HP:0001510	Growth delay	284184	NDUFAF8	OMIM:618776
HP:0001510	Growth delay	55863	TMEM126B	ORPHA:2609
HP:0001510	Growth delay	4535	MT-ND1	ORPHA:2609
HP:0001510	Growth delay	4537	MT-ND3	ORPHA:2609
HP:0001510	Growth delay	4729	NDUFV2	ORPHA:2609
HP:0001510	Growth delay	4694	NDUFA1	ORPHA:2609
HP:0001510	Growth delay	4720	NDUFS2	ORPHA:2609
HP:0001510	Growth delay	4726	NDUFS6	ORPHA:2609
HP:0001510	Growth delay	4728	NDUFS8	ORPHA:2609
HP:0001510	Growth delay	4722	NDUFS3	ORPHA:2609
HP:0001510	Growth delay	79133	NDUFAF5	ORPHA:2609
HP:0001510	Growth delay	79133	NDUFAF5	OMIM:618238
HP:0001510	Growth delay	126328	NDUFA11	ORPHA:2609
HP:0001510	Growth delay	4709	NDUFB3	ORPHA:2609
HP:0001510	Growth delay	4709	NDUFB3	OMIM:618246
HP:0001510	Growth delay	29078	NDUFAF4	ORPHA:2609
HP:0001510	Growth delay	29078	NDUFAF4	OMIM:618237
HP:0001510	Growth delay	374291	NDUFS7	ORPHA:2609
HP:0001510	Growth delay	4700	NDUFA6	ORPHA:2609
HP:0001510	Growth delay	4700	NDUFA6	OMIM:618253
HP:0001510	Growth delay	4536	MT-ND2	ORPHA:2609
HP:0001510	Growth delay	4715	NDUFB9	ORPHA:2609
HP:0001510	Growth delay	5723	PSPH	OMIM:614023
HP:0001510	Growth delay	1763	DNA2	OMIM:620819
HP:0001510	Growth delay	1763	DNA2	ORPHA:808
HP:0001510	Growth delay	201595	STT3B	OMIM:615597
HP:0001510	Growth delay	201595	STT3B	ORPHA:370924
HP:0001510	Growth delay	60684	TRAPPC11	OMIM:615356
HP:0001510	Growth delay	23363	OBSL1	ORPHA:2616
HP:0001510	Growth delay	23363	OBSL1	OMIM:612921
HP:0001510	Growth delay	55627	SMPD4	OMIM:618622
HP:0001510	Growth delay	10973	ASCC3	OMIM:620700
HP:0001510	Growth delay	4897	NRCAM	OMIM:619833
HP:0001510	Growth delay	3703	STT3A	OMIM:619714
HP:0001510	Growth delay	84942	WDR73	OMIM:251300
HP:0001510	Growth delay	84942	WDR73	ORPHA:2065
HP:0001510	Growth delay	1736	DKC1	OMIM:305000
HP:0001510	Growth delay	1736	DKC1	ORPHA:3322
HP:0001510	Growth delay	1736	DKC1	ORPHA:1775
HP:0001510	Growth delay	64220	STRA6	OMIM:601186
HP:0001510	Growth delay	64220	STRA6	ORPHA:2470
HP:0001510	Growth delay	1161	ERCC8	ORPHA:90322
HP:0001510	Growth delay	1161	ERCC8	OMIM:216400
HP:0001510	Growth delay	2067	ERCC1	ORPHA:90322
HP:0001510	Growth delay	2067	ERCC1	OMIM:610758
HP:0001510	Growth delay	2067	ERCC1	ORPHA:1466
HP:0001510	Growth delay	2074	ERCC6	ORPHA:90322
HP:0001510	Growth delay	2074	ERCC6	OMIM:133540
HP:0001510	Growth delay	2074	ERCC6	ORPHA:1466
HP:0001510	Growth delay	197131	UBR1	OMIM:243800
HP:0001510	Growth delay	197131	UBR1	ORPHA:2315
HP:0001510	Growth delay	617	BCS1L	OMIM:603358
HP:0001510	Growth delay	617	BCS1L	ORPHA:53693
HP:0001510	Growth delay	3481	IGF2	ORPHA:231144
HP:0001510	Growth delay	3481	IGF2	OMIM:180860
HP:0001510	Growth delay	3481	IGF2	ORPHA:397590
HP:0001510	Growth delay	283120	H19	ORPHA:231144
HP:0001510	Growth delay	9578	CDC42BPB	OMIM:619841
HP:0001510	Growth delay	1028	CDKN1C	ORPHA:436144
HP:0001510	Growth delay	1028	CDKN1C	ORPHA:85173
HP:0001510	Growth delay	1028	CDKN1C	OMIM:614732
HP:0001510	Growth delay	1028	CDKN1C	ORPHA:397590
HP:0001510	Growth delay	16	AARS1	OMIM:616339
HP:0001510	Growth delay	16	AARS1	ORPHA:33364
HP:0001510	Growth delay	3508	IGHMBP2	OMIM:604320
HP:0001510	Growth delay	29957	SLC25A24	ORPHA:2963
HP:0001510	Growth delay	29957	SLC25A24	OMIM:612289
HP:0001510	Growth delay	51684	SUFU	ORPHA:280200
HP:0001510	Growth delay	9698	PUM1	OMIM:620719
HP:0001510	Growth delay	103	ADAR	OMIM:615010
HP:0001510	Growth delay	25885	POLR1A	OMIM:616462
HP:0001510	Growth delay	9692	PRORP	OMIM:619737
HP:0001510	Growth delay	23545	ATP6V0A2	ORPHA:2834
HP:0001510	Growth delay	23545	ATP6V0A2	OMIM:278250
HP:0001510	Growth delay	23545	ATP6V0A2	OMIM:219200
HP:0001510	Growth delay	23545	ATP6V0A2	ORPHA:357074
HP:0001510	Growth delay	5155	PDGFB	ORPHA:1980
HP:0001510	Growth delay	9213	XPR1	ORPHA:1980
HP:0001510	Growth delay	5159	PDGFRB	ORPHA:1980
HP:0001510	Growth delay	57462	MYORG	ORPHA:1980
HP:0001510	Growth delay	6575	SLC20A2	ORPHA:1980
HP:0001510	Growth delay	58494	JAM2	ORPHA:1980
HP:0001510	Growth delay	23184	MESD	OMIM:618644
HP:0001510	Growth delay	7020	TFAP2A	OMIM:113620
HP:0001510	Growth delay	7020	TFAP2A	ORPHA:1297
HP:0001510	Growth delay	5566	PRKACA	ORPHA:289
HP:0001510	Growth delay	5567	PRKACB	ORPHA:289
HP:0001510	Growth delay	2735	GLI1	ORPHA:289
HP:0001510	Growth delay	2121	EVC	ORPHA:289
HP:0001510	Growth delay	51626	DYNC2LI1	ORPHA:289
HP:0001510	Growth delay	132884	EVC2	ORPHA:289
HP:0001510	Growth delay	171023	ASXL1	ORPHA:97297
HP:0001510	Growth delay	171023	ASXL1	OMIM:605039
HP:0001510	Growth delay	7469	NELFA	ORPHA:280
HP:0001510	Growth delay	22872	SEC31A	OMIM:618651
HP:0001510	Growth delay	1501	CTNND2	ORPHA:281
HP:0001510	Growth delay	9037	SEMA5A	ORPHA:281
HP:0001510	Growth delay	7386	UQCRFS1	OMIM:618775
HP:0001510	Growth delay	5528	PPP2R5D	OMIM:616355
HP:0001510	Growth delay	4297	KMT2A	ORPHA:319182
HP:0001510	Growth delay	4297	KMT2A	OMIM:605130
HP:0001510	Growth delay	4174	MCM5	OMIM:617564
HP:0001510	Growth delay	5073	PARN	OMIM:616353
HP:0001510	Growth delay	5073	PARN	ORPHA:3322
HP:0001510	Growth delay	5073	PARN	ORPHA:1775
HP:0001510	Growth delay	26834	RNU4-2	OMIM:620851
HP:0001510	Growth delay	8241	RBM10	OMIM:311900
HP:0001510	Growth delay	8241	RBM10	ORPHA:2886
HP:0001510	Growth delay	54888	NSUN2	ORPHA:235
HP:0001510	Growth delay	3572	IL6ST	OMIM:619751
HP:0001510	Growth delay	23126	POGZ	OMIM:616364
HP:0001510	Growth delay	54914	FOCAD	OMIM:619991
HP:0001510	Growth delay	8558	CDK10	OMIM:617694
HP:0001510	Growth delay	51633	OTUD6B	OMIM:617452
HP:0001510	Growth delay	51633	OTUD6B	ORPHA:505237
HP:0001510	Growth delay	1859	DYRK1A	ORPHA:464311
HP:0001510	Growth delay	1859	DYRK1A	ORPHA:268261
HP:0001510	Growth delay	1859	DYRK1A	OMIM:614104
HP:0001510	Growth delay	93986	FOXP2	ORPHA:251061
HP:0001510	Growth delay	3800	KIF5C	OMIM:615282
HP:0001510	Growth delay	51163	DBR1	OMIM:620510
HP:0001510	Growth delay	51163	DBR1	OMIM:619441
HP:0001510	Growth delay	56975	FAM20C	ORPHA:1832
HP:0001510	Growth delay	23483	TGDS	OMIM:616145
HP:0001510	Growth delay	2006	ELN	ORPHA:90348
HP:0001510	Growth delay	2006	ELN	OMIM:194050
HP:0001510	Growth delay	10516	FBLN5	ORPHA:90348
HP:0001510	Growth delay	10516	FBLN5	ORPHA:90349
HP:0001510	Growth delay	2720	GLB1	OMIM:230500
HP:0001510	Growth delay	2720	GLB1	ORPHA:79255
HP:0001510	Growth delay	4052	LTBP1	ORPHA:90349
HP:0001510	Growth delay	30008	EFEMP2	ORPHA:90349
HP:0001510	Growth delay	85459	CEP295	OMIM:620767
HP:0001510	Growth delay	4733	DRG1	OMIM:620641
HP:0001510	Growth delay	404672	GTF2H5	ORPHA:33364
HP:0001510	Growth delay	404672	GTF2H5	OMIM:616395
HP:0001510	Growth delay	7737	RNF113A	ORPHA:33364
HP:0001510	Growth delay	7737	RNF113A	OMIM:300953
HP:0001510	Growth delay	6897	TARS1	ORPHA:33364
HP:0001510	Growth delay	2071	ERCC3	ORPHA:33364
HP:0001510	Growth delay	2961	GTF2E2	ORPHA:33364
HP:0001510	Growth delay	2778	GNAS	ORPHA:79445
HP:0001510	Growth delay	79087	ALG12	ORPHA:79324
HP:0001510	Growth delay	79053	ALG8	ORPHA:79325
HP:0001510	Growth delay	79053	ALG8	OMIM:608104
HP:0001510	Growth delay	54903	MKS1	OMIM:249000
HP:0001510	Growth delay	8621	CDK13	OMIM:617360
HP:0001510	Growth delay	54101	RIPK4	OMIM:263650
HP:0001510	Growth delay	51117	COQ4	OMIM:616276
HP:0001510	Growth delay	133686	NADK2	OMIM:616034
HP:0001510	Growth delay	29968	PSAT1	OMIM:616038
HP:0001510	Growth delay	29968	PSAT1	ORPHA:284417
HP:0001510	Growth delay	5426	POLE	OMIM:618336
HP:0001510	Growth delay	5426	POLE	ORPHA:85173
HP:0001510	Growth delay	9900	SV2A	OMIM:620772
HP:0001510	Growth delay	3767	KCNJ11	ORPHA:552
HP:0001510	Growth delay	3767	KCNJ11	ORPHA:99885
HP:0001510	Growth delay	3767	KCNJ11	ORPHA:99886
HP:0001510	Growth delay	8462	KLF11	ORPHA:552
HP:0001510	Growth delay	2645	GCK	ORPHA:552
HP:0001510	Growth delay	2645	GCK	ORPHA:99885
HP:0001510	Growth delay	2645	GCK	OMIM:606176
HP:0001510	Growth delay	26060	APPL1	ORPHA:552
HP:0001510	Growth delay	640	BLK	ORPHA:552
HP:0001510	Growth delay	1056	CEL	ORPHA:552
HP:0001510	Growth delay	4760	NEUROD1	ORPHA:552
HP:0001510	Growth delay	6833	ABCC8	ORPHA:552
HP:0001510	Growth delay	6833	ABCC8	ORPHA:99885
HP:0001510	Growth delay	6833	ABCC8	ORPHA:99886
HP:0001510	Growth delay	5078	PAX4	ORPHA:552
HP:0001510	Growth delay	3172	HNF4A	ORPHA:552
HP:0001510	Growth delay	6927	HNF1A	ORPHA:552
HP:0001510	Growth delay	3630	INS	ORPHA:552
HP:0001510	Growth delay	3630	INS	ORPHA:99885
HP:0001510	Growth delay	3630	INS	OMIM:613370
HP:0001510	Growth delay	3479	IGF1	ORPHA:73272
HP:0001510	Growth delay	3479	IGF1	OMIM:608747
HP:0001510	Growth delay	51750	RTEL1	OMIM:615190
HP:0001510	Growth delay	51750	RTEL1	ORPHA:3322
HP:0001510	Growth delay	51750	RTEL1	ORPHA:1775
HP:0001510	Growth delay	79879	CCDC134	OMIM:619795
HP:0001510	Growth delay	10466	COG5	ORPHA:263487
HP:0001510	Growth delay	54892	NCAPG2	OMIM:618460
HP:0001510	Growth delay	498	ATP5F1A	OMIM:616045
HP:0001510	Growth delay	54973	INTS11	OMIM:620428
HP:0001510	Growth delay	85476	GFM1	OMIM:609060
HP:0001510	Growth delay	2355	FOSL2	OMIM:620789
HP:0001510	Growth delay	100151683	RNU4ATAC	ORPHA:353298
HP:0001510	Growth delay	100151683	RNU4ATAC	OMIM:226960
HP:0001510	Growth delay	100151683	RNU4ATAC	OMIM:210710
HP:0001510	Growth delay	100151683	RNU4ATAC	OMIM:616651
HP:0001510	Growth delay	100151683	RNU4ATAC	ORPHA:2636
HP:0001510	Growth delay	10102	TSFM	OMIM:610505
HP:0001510	Growth delay	2627	GATA6	OMIM:600001
HP:0001510	Growth delay	2627	GATA6	ORPHA:2255
HP:0001510	Growth delay	2627	GATA6	ORPHA:3303
HP:0001510	Growth delay	10733	PLK4	OMIM:616171
HP:0001510	Growth delay	10733	PLK4	ORPHA:808
HP:0001510	Growth delay	10733	PLK4	ORPHA:2518
HP:0001510	Growth delay	91754	NEK9	OMIM:617022
HP:0001510	Growth delay	23395	LARS2	OMIM:617021
HP:0001510	Growth delay	5649	RELN	ORPHA:89844
HP:0001510	Growth delay	10300	KATNB1	ORPHA:89844
HP:0001510	Growth delay	8882	ZPR1	OMIM:619321
HP:0001510	Growth delay	346171	ZFP57	ORPHA:99886
HP:0001510	Growth delay	346171	ZFP57	OMIM:601410
HP:0001510	Growth delay	57061	HYMAI	ORPHA:99886
HP:0001510	Growth delay	57061	HYMAI	ORPHA:96191
HP:0001510	Growth delay	57061	HYMAI	OMIM:601410
HP:0001510	Growth delay	5325	PLAGL1	ORPHA:99886
HP:0001510	Growth delay	5325	PLAGL1	ORPHA:96191
HP:0001510	Growth delay	79068	FTO	OMIM:612938
HP:0001510	Growth delay	473	RERE	ORPHA:494344
HP:0001510	Growth delay	473	RERE	OMIM:616975
HP:0001510	Growth delay	10940	POP1	OMIM:617396
HP:0001510	Growth delay	84340	GFM2	ORPHA:565624
HP:0001510	Growth delay	84340	GFM2	OMIM:618397
HP:0001510	Growth delay	63925	ZNF335	OMIM:615095
HP:0001510	Growth delay	2530	FUT8	OMIM:618005
HP:0001510	Growth delay	2334	AFF2	OMIM:309548
HP:0001510	Growth delay	2334	AFF2	ORPHA:100973
HP:0001510	Growth delay	54496	PRMT7	OMIM:617157
HP:0001510	Growth delay	7019	TFAM	OMIM:617156
HP:0001510	Growth delay	4705	NDUFA10	OMIM:618243
HP:0001510	Growth delay	11080	DNAJB4	OMIM:620326
HP:0001510	Growth delay	400569	MED11	OMIM:620327
HP:0001510	Growth delay	3183	HNRNPC	OMIM:620688
HP:0001510	Growth delay	10092	ARPC5	OMIM:620565
HP:0001510	Growth delay	1312	COMT	ORPHA:567
HP:0001510	Growth delay	221037	JMJD1C	ORPHA:567
HP:0001510	Growth delay	2812	GP1BB	ORPHA:567
HP:0001510	Growth delay	6239	RREB1	ORPHA:567
HP:0001510	Growth delay	7290	HIRA	ORPHA:567
HP:0001510	Growth delay	9632	SEC24C	ORPHA:567
HP:0001510	Growth delay	7353	UFD1	ORPHA:567
HP:0001510	Growth delay	421	ARVCF	ORPHA:567
HP:0001510	Growth delay	7703	PCGF2	OMIM:618371
HP:0001510	Growth delay	6045	RNF2	OMIM:619460
HP:0001510	Growth delay	9496	TBX4	ORPHA:261279
HP:0001510	Growth delay	8091	HMGA2	ORPHA:94063
HP:0001510	Growth delay	8091	HMGA2	ORPHA:397590
HP:0001510	Growth delay	8091	HMGA2	OMIM:618908
HP:0001510	Growth delay	23592	LEMD3	ORPHA:94063
HP:0001510	Growth delay	372	ARCN1	OMIM:617164
HP:0001510	Growth delay	10013	HDAC6	OMIM:300863
HP:0001510	Growth delay	10013	HDAC6	ORPHA:163966
HP:0001510	Growth delay	3977	LIFR	OMIM:601559
HP:0001510	Growth delay	3977	LIFR	ORPHA:3206
HP:0001510	Growth delay	84705	GTPBP3	OMIM:616198
HP:0001510	Growth delay	5144	PDE4D	ORPHA:439822
HP:0001510	Growth delay	5144	PDE4D	OMIM:614613
HP:0001510	Growth delay	6023	RMRP	OMIM:607095
HP:0001510	Growth delay	6304	SATB1	OMIM:619229
HP:0001510	Growth delay	5573	PRKAR1A	OMIM:101800
HP:0001510	Growth delay	91039	DPP9	OMIM:620331
HP:0001510	Growth delay	55605	KIF21A	ORPHA:994
HP:0001510	Growth delay	4927	NUP88	ORPHA:994
HP:0001510	Growth delay	7846	TUBA1A	ORPHA:994
HP:0001510	Growth delay	4654	MYOD1	ORPHA:994
HP:0001510	Growth delay	4593	MUSK	ORPHA:994
HP:0001510	Growth delay	4593	MUSK	OMIM:208150
HP:0001510	Growth delay	5913	RAPSN	ORPHA:994
HP:0001510	Growth delay	6572	SLC18A3	ORPHA:994
HP:0001510	Growth delay	285489	DOK7	ORPHA:994
HP:0001510	Growth delay	9791	PTDSS1	OMIM:151050
HP:0001510	Growth delay	51241	COX16	OMIM:619355
HP:0001510	Growth delay	54809	SAMD9	OMIM:617053
HP:0001510	Growth delay	348180	CTU2	OMIM:618142
HP:0001510	Growth delay	145173	B3GLCT	OMIM:261540
HP:0001510	Growth delay	145173	B3GLCT	ORPHA:709
HP:0001510	Growth delay	29927	SEC61A1	OMIM:617056
HP:0001510	Growth delay	92002	CCNQ	OMIM:300707
HP:0001510	Growth delay	10283	CWC27	OMIM:250410
HP:0001510	Growth delay	10283	CWC27	ORPHA:166035
HP:0001510	Growth delay	1836	SLC26A2	ORPHA:628
HP:0001510	Growth delay	10134	BCAP31	ORPHA:369942
HP:0001510	Growth delay	10134	BCAP31	OMIM:300475
HP:0001510	Growth delay	10134	BCAP31	ORPHA:369939
HP:0001510	Growth delay	2887	GRB10	ORPHA:96182
HP:0001510	Growth delay	2222	FDFT1	OMIM:618156
HP:0001510	Growth delay	100147744	RNU7-1	OMIM:619487
HP:0001510	Growth delay	6872	TAF1	OMIM:300966
HP:0001510	Growth delay	90522	YIF1B	OMIM:619125
HP:0001510	Growth delay	8567	MADD	OMIM:619004
HP:0001510	Growth delay	8567	MADD	OMIM:619005
HP:0001510	Growth delay	60558	GUF1	OMIM:617065
HP:0001510	Growth delay	374879	ZNF699	OMIM:619488
HP:0001510	Growth delay	55640	FLVCR2	OMIM:225790
HP:0001510	Growth delay	118924	FRA10AC1	OMIM:620113
HP:0001510	Growth delay	7284	TUFM	OMIM:610678
HP:0001510	Growth delay	55252	ASXL2	OMIM:617190
HP:0001510	Growth delay	342035	GLDN	OMIM:617194
HP:0001510	Growth delay	2332	FMR1	ORPHA:261483
HP:0001510	Growth delay	84231	TRAF7	OMIM:618164
HP:0001510	Growth delay	5297	PI4KA	ORPHA:436252
HP:0001510	Growth delay	5297	PI4KA	ORPHA:98889
HP:0001510	Growth delay	57217	TTC7A	ORPHA:436252
HP:0001510	Growth delay	57217	TTC7A	OMIM:243150
HP:0001510	Growth delay	284058	KANSL1	OMIM:610443
HP:0001510	Growth delay	5557	PRIM1	OMIM:620005
HP:0001510	Growth delay	25913	POT1	OMIM:620368
HP:0001510	Growth delay	219844	HYLS1	OMIM:236680
HP:0001510	Growth delay	3239	HOXD13	ORPHA:887
HP:0001510	Growth delay	1513	CTSK	ORPHA:763
HP:0001510	Growth delay	23040	MYT1L	ORPHA:647799
HP:0001510	Growth delay	116150	NUS1	OMIM:617082
HP:0001510	Growth delay	64432	MRPS25	OMIM:619025
HP:0001510	Growth delay	9652	SKIC3	ORPHA:84064
HP:0001510	Growth delay	9652	SKIC3	OMIM:222470
HP:0001510	Growth delay	6499	SKIC2	ORPHA:84064
HP:0001510	Growth delay	6499	SKIC2	OMIM:614602
HP:0001510	Growth delay	10535	RNASEH2A	OMIM:610333
HP:0001510	Growth delay	267	AMFR	OMIM:620379
HP:0001510	Growth delay	79693	YRDC	ORPHA:2065
HP:0001510	Growth delay	51002	TPRKB	ORPHA:2065
HP:0001510	Growth delay	55644	OSGEP	ORPHA:2065
HP:0001510	Growth delay	55644	OSGEP	OMIM:617729
HP:0001510	Growth delay	55746	NUP133	ORPHA:2065
HP:0001510	Growth delay	84520	GON7	ORPHA:2065
HP:0001510	Growth delay	112858	TP53RK	ORPHA:2065
HP:0001510	Growth delay	8270	LAGE3	ORPHA:2065
HP:0001510	Growth delay	8270	LAGE3	OMIM:301006
HP:0001510	Growth delay	4713	NDUFB7	OMIM:620135
HP:0001510	Growth delay	64858	DCLRE1B	OMIM:620133
HP:0001510	Growth delay	4067	LYN	OMIM:620376
HP:0001510	Growth delay	9898	UBAP2L	OMIM:620494
HP:0001510	Growth delay	168667	BMPER	OMIM:608022
HP:0001510	Growth delay	137814	NKX2-6	ORPHA:3384
HP:0001510	Growth delay	137814	NKX2-6	ORPHA:3303
HP:0001510	Growth delay	23129	PLXND1	ORPHA:3384
HP:0001510	Growth delay	23129	PLXND1	OMIM:620294
HP:0001510	Growth delay	6309	SC5D	ORPHA:46059
HP:0001510	Growth delay	1832	DSP	ORPHA:158687
HP:0001510	Growth delay	3728	JUP	ORPHA:158687
HP:0001510	Growth delay	10491	CRTAP	ORPHA:2050
HP:0001510	Growth delay	9871	SEC24D	ORPHA:2050
HP:0001510	Growth delay	5034	P4HB	ORPHA:2050
HP:0001510	Growth delay	5393	EXOSC9	OMIM:618065
HP:0001510	Growth delay	7355	SLC35A2	ORPHA:356961
HP:0001510	Growth delay	7355	SLC35A2	OMIM:300896
HP:0001510	Growth delay	25821	MTO1	OMIM:614702
HP:0001510	Growth delay	10274	STAG1	ORPHA:502434
HP:0001510	Growth delay	10274	STAG1	OMIM:617635
HP:0001510	Growth delay	51343	FZR1	OMIM:620145
HP:0001510	Growth delay	9690	UBE3C	OMIM:620270
HP:0001510	Growth delay	6341	SCO1	OMIM:619048
HP:0001510	Growth delay	4552	MTRR	ORPHA:2169
HP:0001510	Growth delay	79947	DHDDS	OMIM:613861
HP:0001510	Growth delay	9382	COG1	OMIM:611209
HP:0001510	Growth delay	1353	COX11	OMIM:620275
HP:0001510	Growth delay	7298	TYMS	OMIM:620040
HP:0001510	Growth delay	7298	TYMS	ORPHA:1775
HP:0001510	Growth delay	1340	COX6B1	OMIM:619051
HP:0001510	Growth delay	100131801	PET100	OMIM:619055
HP:0001510	Growth delay	274	BIN1	OMIM:255200
HP:0001510	Growth delay	5313	PKLR	OMIM:266200
HP:0001510	Growth delay	222663	SCUBE3	OMIM:619184
HP:0001510	Growth delay	7156	TOP3A	OMIM:618097
HP:0001510	Growth delay	51199	NIN	OMIM:614851
HP:0001510	Growth delay	84300	UQCC2	OMIM:615824
HP:0001510	Growth delay	83879	CDCA7	OMIM:616910
HP:0001510	Growth delay	2200	FBN1	OMIM:616914
HP:0001510	Growth delay	4524	MTHFR	ORPHA:563609
HP:0001510	Growth delay	57216	VANGL2	ORPHA:563609
HP:0001510	Growth delay	81788	NUAK2	ORPHA:563609
HP:0001510	Growth delay	2615	LRRC32	OMIM:619074
HP:0001510	Growth delay	222546	RFX6	OMIM:615710
HP:0001510	Growth delay	26053	AUTS2	OMIM:615834
HP:0001510	Growth delay	5828	PEX2	OMIM:614866
HP:0001510	Growth delay	2321	FLT1	ORPHA:275555
HP:0001510	Growth delay	219736	STOX1	ORPHA:275555
HP:0001510	Growth delay	10699	CORIN	ORPHA:275555
HP:0001510	Growth delay	285175	UNC80	OMIM:616801
HP:0001510	Growth delay	285175	UNC80	ORPHA:371364
HP:0001510	Growth delay	9289	ADGRG1	ORPHA:98889
HP:0001510	Growth delay	27286	SRPX2	ORPHA:98889
HP:0001510	Growth delay	57459	GATAD2B	ORPHA:363686
HP:0001510	Growth delay	6628	SNRPB	ORPHA:1393
HP:0001510	Growth delay	1654	DDX3X	ORPHA:3338
HP:0001510	Growth delay	5324	PLAG1	ORPHA:397590
HP:0001510	Growth delay	5591	PRKDC	OMIM:615966
HP:0001510	Growth delay	64135	IFIH1	OMIM:615846
HP:0001510	Growth delay	51085	MLXIPL	OMIM:194050
HP:0001510	Growth delay	3911	LAMA5	OMIM:620076
HP:0001510	Growth delay	55343	SLC35C1	ORPHA:99843
HP:0001510	Growth delay	4846	NOS3	OMIM:189800
HP:0001510	Growth delay	7477	WNT7B	ORPHA:2470
HP:0001510	Growth delay	5915	RARB	ORPHA:2470
HP:0001510	Growth delay	6389	SDHA	ORPHA:3208
HP:0001510	Growth delay	6390	SDHB	ORPHA:3208
HP:0001510	Growth delay	6392	SDHD	ORPHA:3208
HP:0001510	Growth delay	80184	CEP290	OMIM:611134
HP:0001510	Growth delay	55835	CPAP	OMIM:613676
HP:0001510	Growth delay	545	ATR	ORPHA:808
HP:0001510	Growth delay	545	ATR	OMIM:210600
HP:0001510	Growth delay	5116	PCNT	ORPHA:808
HP:0001510	Growth delay	5116	PCNT	OMIM:210720
HP:0001510	Growth delay	5116	PCNT	ORPHA:2637
HP:0001510	Growth delay	79902	NUP85	ORPHA:808
HP:0001510	Growth delay	84126	ATRIP	ORPHA:808
HP:0001510	Growth delay	10293	TRAIP	ORPHA:808
HP:0001510	Growth delay	10293	TRAIP	OMIM:616777
HP:0001510	Growth delay	65057	ACD	ORPHA:3322
HP:0001510	Growth delay	65057	ACD	OMIM:616553
HP:0001510	Growth delay	7015	TERT	ORPHA:3322
HP:0001510	Growth delay	7015	TERT	ORPHA:1775
HP:0001510	Growth delay	2317	FLNB	OMIM:150250
HP:0001510	Growth delay	583	BBS2	OMIM:615981
HP:0001510	Growth delay	57017	COQ9	OMIM:614654
HP:0001510	Growth delay	1134	CHRNA1	OMIM:253290
HP:0001510	Growth delay	1146	CHRNG	OMIM:253290
HP:0001510	Growth delay	1146	CHRNG	ORPHA:2990
HP:0001510	Growth delay	1144	CHRND	OMIM:253290
HP:0001510	Growth delay	6888	TALDO1	OMIM:606003
HP:0001510	Growth delay	56052	ALG1	OMIM:608540
HP:0001510	Growth delay	6005	RHAG	ORPHA:71275
HP:0001510	Growth delay	6006	RHCE	ORPHA:71275
HP:0001510	Growth delay	6007	RHD	ORPHA:71275
HP:0001510	Growth delay	27238	GPKOW	ORPHA:2570
HP:0001510	Growth delay	4683	NBN	OMIM:251260
HP:0001510	Growth delay	23394	ADNP	OMIM:615873
HP:0001510	Growth delay	4173	MCM4	OMIM:609981
HP:0001510	Growth delay	2702	GJA5	ORPHA:3303
HP:0001510	Growth delay	3791	KDR	ORPHA:3303
HP:0001510	Growth delay	2657	GDF1	ORPHA:3303
HP:0001510	Growth delay	182	JAG1	ORPHA:3303
HP:0001510	Growth delay	140628	GATA5	ORPHA:3303
HP:0001510	Growth delay	2324	FLT4	ORPHA:3303
HP:0001510	Growth delay	10370	CITED2	ORPHA:3303
HP:0001510	Growth delay	55593	OTUD5	OMIM:301056
HP:0001510	Growth delay	113179	ADAT3	ORPHA:363528
HP:0001510	Growth delay	10229	COQ7	OMIM:616733
HP:0001510	Growth delay	169792	GLIS3	OMIM:610199
HP:0001510	Growth delay	9837	GINS1	OMIM:617827
HP:0001510	Growth delay	5925	RB1	ORPHA:1587
HP:0001510	Growth delay	23511	NUP188	OMIM:618804
HP:0001510	Growth delay	3796	KIF2A	OMIM:615411
HP:0001510	Growth delay	134701	RIPPLY2	ORPHA:2311
HP:0001510	Growth delay	10683	DLL3	ORPHA:2311
HP:0001510	Growth delay	3955	LFNG	ORPHA:2311
HP:0001510	Growth delay	84667	HES7	ORPHA:2311
HP:0001510	Growth delay	145873	MESP2	ORPHA:2311
HP:0001510	Growth delay	57211	ADGRG6	OMIM:616503
HP:0001510	Growth delay	708	C1QBP	OMIM:617713
HP:0001510	Growth delay	9361	LONP1	ORPHA:79243
HP:0001510	Growth delay	5160	PDHA1	ORPHA:79243
HP:0001510	Growth delay	157570	ESCO2	ORPHA:2319
HP:0001510	Growth delay	84342	COG8	OMIM:611182
HP:0001510	Growth delay	8985	PLOD3	OMIM:612394
HP:0001510	Growth delay	25	ABL1	OMIM:617602
HP:0001510	Growth delay	29980	DONSON	OMIM:617604
HP:0001510	Growth delay	29980	DONSON	OMIM:251230
HP:0001510	Growth delay	9997	SCO2	OMIM:604377
HP:0001510	Growth delay	9150	CTDP1	ORPHA:48431
HP:0001510	Growth delay	9894	TELO2	ORPHA:488642
HP:0001510	Growth delay	3704	ITPA	OMIM:616647
HP:0001510	Growth delay	25914	RTTN	ORPHA:468631
HP:0001510	Growth delay	4796	TONSL	ORPHA:93357
HP:0001510	Growth delay	5162	PDHB	ORPHA:255138
HP:0001510	Growth delay	54870	QRICH1	OMIM:617982
HP:0001510	Growth delay	60528	ELAC2	OMIM:615440
HP:0001510	Growth delay	55278	QRSL1	OMIM:618835
HP:0001510	Growth delay	6911	TBX6	ORPHA:1797
HP:0001510	Growth delay	202018	TAPT1	OMIM:616897
HP:0001510	Growth delay	28957	MRPS28	OMIM:618958
HP:0001510	Growth delay	5188	GATB	OMIM:618838
HP:0001510	Growth delay	55164	SHQ1	OMIM:619922
HP:0001510	Growth delay	283459	GATC	OMIM:618839
HP:0001510	Growth delay	2767	GNA11	ORPHA:1556
HP:0001510	Growth delay	151188	ARL6IP6	ORPHA:1556
HP:0001510	Growth delay	9897	WASHC5	OMIM:220210
HP:0001510	Growth delay	523	ATP6V1A	ORPHA:357074
HP:0001510	Growth delay	529	ATP6V1E1	ORPHA:357074
HP:0001510	Growth delay	5879	RAC1	OMIM:617751
HP:0001510	Growth delay	440	ASNS	OMIM:615574
HP:0001510	Growth delay	200205	IBA57	OMIM:615330
HP:0001510	Growth delay	1663	DDX11	OMIM:613398
HP:0001510	Growth delay	119559	SFXN4	OMIM:615578
HP:0001510	Growth delay	55733	HHAT	ORPHA:1422
HP:0001510	Growth delay	7476	WNT7A	ORPHA:2879
HP:0001510	Growth delay	85378	TUBGCP6	ORPHA:2518
HP:0001510	Growth delay	27229	TUBGCP4	ORPHA:2518
HP:0001510	Growth delay	51294	PCDH12	OMIM:251280
HP:0001510	Growth delay	1788	DNMT3A	OMIM:618724
HP:0001510	Growth delay	9757	KMT2B	OMIM:619934
HP:0001510	Growth delay	10262	SF3B4	ORPHA:1788
HP:0001510	Growth delay	29928	TIMM22	OMIM:618851
HP:0001510	Growth delay	35	ACADS	ORPHA:26792
HP:0001510	Growth delay	2036	EPB41L1	OMIM:614257
HP:0001510	Growth delay	80169	CTC1	OMIM:612199
HP:0001510	Growth delay	80169	CTC1	ORPHA:1775
HP:0001510	Growth delay	55135	WRAP53	ORPHA:1775
HP:0001510	Growth delay	4869	NPM1	ORPHA:1775
HP:0001510	Growth delay	7012	TERC	ORPHA:1775
HP:0001510	Growth delay	55505	NOP10	ORPHA:1775
HP:0001510	Growth delay	10736	SIX2	ORPHA:488437
HP:0001510	Growth delay	6775	STAT4	ORPHA:85408
HP:0001510	Growth delay	3560	IL2RB	ORPHA:85408
HP:0001510	Growth delay	79722	ANKRD55	ORPHA:85408
HP:0001510	Growth delay	919	CD247	ORPHA:85408
HP:0001510	Growth delay	3559	IL2RA	ORPHA:85408
HP:0001510	Growth delay	5771	PTPN2	ORPHA:85408
HP:0001510	Growth delay	146059	CDAN1	OMIM:224120
HP:0001510	Growth delay	7068	THRB	ORPHA:566243
HP:0001510	Growth delay	9508	ADAMTS3	ORPHA:2136
HP:0001510	Growth delay	147372	CCBE1	ORPHA:2136
HP:0001510	Growth delay	147372	CCBE1	OMIM:235510
HP:0001510	Growth delay	2137	EXTL3	ORPHA:508533
HP:0001510	Growth delay	2137	EXTL3	OMIM:617425
HP:0001510	Growth delay	2879	GPX4	ORPHA:93317
HP:0001510	Growth delay	2879	GPX4	OMIM:250220
HP:0001510	Growth delay	4882	NPR2	ORPHA:40
HP:0001510	Growth delay	65992	DDRGK1	ORPHA:93352
HP:0001510	Growth delay	29071	C1GALT1C1	OMIM:301110
HP:0001510	Growth delay	1311	COMP	ORPHA:93308
HP:0001510	Growth delay	26523	AGO1	OMIM:620292
HP:0001510	Growth delay	1795	DOCK3	OMIM:618292
HP:0001510	Growth delay	50515	CHST11	OMIM:618167
HP:0001510	Growth delay	6340	SCNN1G	ORPHA:171876
HP:0001510	Growth delay	6337	SCNN1A	ORPHA:171876
HP:0001510	Growth delay	6338	SCNN1B	ORPHA:171876
HP:0001510	Growth delay	7086	TKT	OMIM:617044
HP:0001510	Growth delay	7086	TKT	ORPHA:488618
HP:0001510	Growth delay	64221	ROBO3	ORPHA:2744
HP:0001510	Growth delay	84181	CHD6	ORPHA:2108
HP:0001510	Growth delay	286053	NSMCE2	OMIM:617253
HP:0001510	Growth delay	3313	HSPA9	OMIM:616854
HP:0001510	Growth delay	5476	CTSA	OMIM:256540
HP:0001510	Growth delay	23250	ATP11A	OMIM:619851
HP:0001510	Growth delay	2058	EPRS1	OMIM:617951
HP:0001510	Growth delay	5191	PEX7	OMIM:215100
HP:0001510	Growth delay	26175	LYSET	OMIM:619345
HP:0001510	Growth delay	9419	CRIPT	OMIM:615789
HP:0001510	Growth delay	64841	GNPNAT1	OMIM:619598
HP:0001510	Growth delay	2692	GHRHR	OMIM:618157
HP:0001510	Growth delay	3832	KIF11	ORPHA:2526
HP:0001510	Growth delay	166929	SGMS2	OMIM:126550
HP:0001510	Growth delay	1749	DLX5	OMIM:220600
HP:0001510	Growth delay	25871	NEPRO	OMIM:618853
HP:0001510	Growth delay	153642	ARSK	OMIM:619698
HP:0001510	Growth delay	579	NKX3-2	OMIM:613330
HP:0001510	Growth delay	2588	GALNS	OMIM:253000
HP:0001510	Growth delay	1139	CHRNA7	ORPHA:199318
HP:0001510	Growth delay	8216	LZTR1	OMIM:616564
HP:0001510	Growth delay	8216	LZTR1	ORPHA:648
HP:0001510	Growth delay	8216	LZTR1	OMIM:605275
HP:0001510	Growth delay	6228	RPS23	OMIM:617412
HP:0001510	Growth delay	6729	SRP54	OMIM:618752
HP:0001510	Growth delay	6729	SRP54	OMIM:260400
HP:0001510	Growth delay	166378	AFG2A	OMIM:616577
HP:0001510	Growth delay	54453	RIN2	OMIM:613075
HP:0001510	Growth delay	7436	VLDLR	OMIM:224050
HP:0001510	Growth delay	7436	VLDLR	ORPHA:1766
HP:0001510	Growth delay	54543	TOMM7	OMIM:620601
HP:0001510	Growth delay	51109	RDH11	OMIM:616108
HP:0001510	Growth delay	51109	RDH11	ORPHA:436245
HP:0001510	Growth delay	23312	DMXL2	OMIM:616113
HP:0001510	Growth delay	8036	SHOC2	ORPHA:2701
HP:0001510	Growth delay	8036	SHOC2	OMIM:607721
HP:0001510	Growth delay	5500	PPP1CB	ORPHA:2701
HP:0001510	Growth delay	5500	PPP1CB	OMIM:617506
HP:0001510	Growth delay	4247	MGAT2	OMIM:212066
HP:0001510	Growth delay	54	ACP5	ORPHA:1855
HP:0001510	Growth delay	54	ACP5	OMIM:607944
HP:0001510	Growth delay	79659	DYNC2H1	OMIM:613091
HP:0001510	Growth delay	79659	DYNC2H1	ORPHA:474
HP:0001510	Growth delay	8493	PPM1D	OMIM:617450
HP:0001510	Growth delay	9354	UBE4A	OMIM:619639
HP:0001510	Growth delay	5593	PRKG2	OMIM:619636
HP:0001510	Growth delay	79718	TBL1XR1	OMIM:602342
HP:0001510	Growth delay	5605	MAP2K2	OMIM:615280
HP:0001510	Growth delay	5605	MAP2K2	ORPHA:638
HP:0001510	Growth delay	5605	MAP2K2	ORPHA:1340
HP:0001510	Growth delay	54828	BCAS3	OMIM:619641
HP:0001510	Growth delay	23187	PHLDB1	OMIM:620639
HP:0001510	Growth delay	79971	WLS	OMIM:619648
HP:0001510	Growth delay	3373	HYAL1	OMIM:601492
HP:0001510	Growth delay	3373	HYAL1	ORPHA:67041
HP:0001510	Growth delay	23499	MACF1	OMIM:618325
HP:0001510	Growth delay	4087	SMAD2	OMIM:619656
HP:0001510	Growth delay	4087	SMAD2	OMIM:619657
HP:0001510	Growth delay	178	AGL	ORPHA:366
HP:0001510	Growth delay	178	AGL	OMIM:232400
HP:0001510	Growth delay	1523	CUX1	OMIM:618330
HP:0001510	Growth delay	5908	RAP1B	OMIM:620654
HP:0001510	Growth delay	5910	RAP1GDS1	OMIM:620655
HP:0001510	Growth delay	7873	MANF	OMIM:620651
HP:0001510	Growth delay	64132	XYLT2	OMIM:605822
HP:0001510	Growth delay	64132	XYLT2	ORPHA:85194
HP:0001510	Growth delay	7291	TWIST1	ORPHA:794
HP:0001510	Growth delay	7291	TWIST1	OMIM:101400
HP:0001510	Growth delay	2263	FGFR2	ORPHA:794
HP:0001510	Growth delay	2263	FGFR2	OMIM:101400
HP:0001510	Growth delay	2261	FGFR3	ORPHA:794
HP:0001510	Growth delay	2261	FGFR3	ORPHA:93274
HP:0001510	Growth delay	2261	FGFR3	OMIM:602849
HP:0001510	Growth delay	57190	SELENON	ORPHA:324604
HP:0001510	Growth delay	57190	SELENON	OMIM:602771
HP:0001510	Growth delay	4625	MYH7	ORPHA:324604
HP:0001510	Growth delay	4625	MYH7	OMIM:255160
HP:0001510	Growth delay	7273	TTN	ORPHA:324604
HP:0001510	Growth delay	54517	PUS7	OMIM:618342
HP:0001510	Growth delay	8573	CASK	OMIM:300749
HP:0001510	Growth delay	90459	ERI1	OMIM:620663
HP:0001510	Growth delay	27125	AFF4	ORPHA:444077
HP:0001510	Growth delay	27125	AFF4	OMIM:616368
HP:0001510	Growth delay	55630	SLC39A4	ORPHA:37
HP:0001510	Growth delay	55630	SLC39A4	OMIM:201100
HP:0001510	Growth delay	4967	OGDH	ORPHA:31
HP:0001510	Growth delay	11277	TREX1	OMIM:225750
HP:0001510	Growth delay	11277	TREX1	ORPHA:51
HP:0001510	Growth delay	1297	COL9A1	ORPHA:166002
HP:0001510	Growth delay	1297	COL9A1	ORPHA:250984
HP:0001510	Growth delay	1297	COL9A1	OMIM:614134
HP:0001510	Growth delay	1298	COL9A2	ORPHA:166002
HP:0001510	Growth delay	1298	COL9A2	OMIM:614284
HP:0001510	Growth delay	1298	COL9A2	ORPHA:250984
HP:0001510	Growth delay	1299	COL9A3	ORPHA:166002
HP:0001510	Growth delay	1299	COL9A3	ORPHA:250984
HP:0001510	Growth delay	1281	COL3A1	OMIM:130050
HP:0001510	Growth delay	1281	COL3A1	ORPHA:286
HP:0001510	Growth delay	1281	COL3A1	ORPHA:2500
HP:0001510	Growth delay	427	ASAH1	ORPHA:333
HP:0001510	Growth delay	254394	MCM9	OMIM:616185
HP:0001510	Growth delay	10588	MTHFS	OMIM:618367
HP:0001510	Growth delay	3549	IHH	ORPHA:63446
HP:0001510	Growth delay	3549	IHH	OMIM:112500
HP:0001510	Growth delay	3549	IHH	ORPHA:93388
HP:0001510	Growth delay	3549	IHH	OMIM:607778
HP:0001510	Growth delay	84068	SLC10A7	OMIM:618363
HP:0001510	Growth delay	8200	GDF5	ORPHA:63442
HP:0001510	Growth delay	8200	GDF5	OMIM:113100
HP:0001510	Growth delay	8200	GDF5	ORPHA:93384
HP:0001510	Growth delay	8200	GDF5	ORPHA:93388
HP:0001510	Growth delay	8200	GDF5	OMIM:615072
HP:0001510	Growth delay	8200	GDF5	ORPHA:2639
HP:0001510	Growth delay	50945	TBX22	OMIM:302905
HP:0001510	Growth delay	50945	TBX22	ORPHA:921
HP:0001510	Growth delay	3054	HCFC1	OMIM:309541
HP:0001510	Growth delay	201163	FLCN	OMIM:610883
HP:0001510	Growth delay	11145	PLAAT3	OMIM:620683
HP:0001510	Growth delay	5130	PCYT1A	OMIM:620680
HP:0001510	Growth delay	5130	PCYT1A	OMIM:608940
HP:0001510	Growth delay	25778	DSTYK	ORPHA:101003
HP:0001510	Growth delay	5611	DNAJC3	OMIM:616192
HP:0001510	Growth delay	5611	DNAJC3	ORPHA:445062
HP:0001510	Growth delay	51729	WBP11	OMIM:619227
HP:0001510	Growth delay	2697	GJA1	ORPHA:317
HP:0001510	Growth delay	2697	GJA1	OMIM:257850
HP:0001510	Growth delay	2707	GJB3	ORPHA:317
HP:0001510	Growth delay	2531	KDSR	ORPHA:317
HP:0001510	Growth delay	127534	GJB4	ORPHA:317
HP:0001510	Growth delay	8883	NAE1	OMIM:620210
HP:0001510	Growth delay	151516	ASPRV1	ORPHA:313
HP:0001510	Growth delay	126410	CYP4F22	ORPHA:313
HP:0001510	Growth delay	6820	SULT2B1	ORPHA:313
HP:0001510	Growth delay	6820	SULT2B1	ORPHA:79394
HP:0001510	Growth delay	26154	ABCA12	ORPHA:313
HP:0001510	Growth delay	26154	ABCA12	ORPHA:79394
HP:0001510	Growth delay	643418	LIPN	ORPHA:313
HP:0001510	Growth delay	348938	NIPAL4	ORPHA:313
HP:0001510	Growth delay	348938	NIPAL4	ORPHA:79394
HP:0001510	Growth delay	121214	SDR9C7	ORPHA:313
HP:0001510	Growth delay	121214	SDR9C7	ORPHA:79394
HP:0001510	Growth delay	7051	TGM1	ORPHA:313
HP:0001510	Growth delay	7051	TGM1	ORPHA:79394
HP:0001510	Growth delay	1041	CDSN	OMIM:270300
HP:0001510	Growth delay	8720	MBTPS1	OMIM:618392
HP:0001510	Growth delay	57477	SHROOM4	ORPHA:85288
HP:0001510	Growth delay	1289	COL5A1	OMIM:130000
HP:0001510	Growth delay	23233	EXOC6B	OMIM:618395
HP:0001510	Growth delay	2799	GNS	OMIM:252940
HP:0001510	Growth delay	50964	SOST	OMIM:122860
HP:0001510	Growth delay	50964	SOST	ORPHA:1513
HP:0001510	Growth delay	7169	TPM2	OMIM:108120
HP:0001510	Growth delay	7169	TPM2	ORPHA:1147
HP:0001510	Growth delay	55670	PEX26	ORPHA:772
HP:0001510	Growth delay	55670	PEX26	ORPHA:44
HP:0001510	Growth delay	55670	PEX26	ORPHA:912
HP:0001510	Growth delay	8504	PEX3	ORPHA:772
HP:0001510	Growth delay	8504	PEX3	ORPHA:44
HP:0001510	Growth delay	8504	PEX3	ORPHA:912
HP:0001510	Growth delay	9409	PEX16	ORPHA:772
HP:0001510	Growth delay	9409	PEX16	ORPHA:44
HP:0001510	Growth delay	9409	PEX16	ORPHA:912
HP:0001510	Growth delay	5190	PEX6	ORPHA:772
HP:0001510	Growth delay	5190	PEX6	ORPHA:3220
HP:0001510	Growth delay	5190	PEX6	ORPHA:44
HP:0001510	Growth delay	5190	PEX6	ORPHA:912
HP:0001510	Growth delay	8799	PEX11B	ORPHA:772
HP:0001510	Growth delay	8799	PEX11B	ORPHA:44
HP:0001510	Growth delay	8799	PEX11B	ORPHA:912
HP:0001510	Growth delay	5189	PEX1	ORPHA:772
HP:0001510	Growth delay	5189	PEX1	ORPHA:3220
HP:0001510	Growth delay	5189	PEX1	ORPHA:44
HP:0001510	Growth delay	5189	PEX1	ORPHA:912
HP:0001510	Growth delay	5193	PEX12	ORPHA:772
HP:0001510	Growth delay	5193	PEX12	ORPHA:44
HP:0001510	Growth delay	5193	PEX12	ORPHA:912
HP:0001510	Growth delay	5194	PEX13	ORPHA:772
HP:0001510	Growth delay	5194	PEX13	ORPHA:44
HP:0001510	Growth delay	5194	PEX13	ORPHA:912
HP:0001510	Growth delay	5195	PEX14	ORPHA:772
HP:0001510	Growth delay	5195	PEX14	ORPHA:44
HP:0001510	Growth delay	5195	PEX14	ORPHA:912
HP:0001510	Growth delay	5192	PEX10	ORPHA:772
HP:0001510	Growth delay	5192	PEX10	ORPHA:44
HP:0001510	Growth delay	5192	PEX10	ORPHA:912
HP:0001510	Growth delay	8242	KDM5C	ORPHA:85279
HP:0001510	Growth delay	8242	KDM5C	OMIM:300534
HP:0001510	Growth delay	5339	PLEC	OMIM:226670
HP:0001510	Growth delay	89970	RSPRY1	ORPHA:457395
HP:0001510	Growth delay	89970	RSPRY1	OMIM:616723
HP:0001510	Growth delay	51594	NBAS	OMIM:614800
HP:0001510	Growth delay	54187	NANS	OMIM:610442
HP:0001510	Growth delay	7474	WNT5A	OMIM:180700
HP:0001510	Growth delay	7474	WNT5A	ORPHA:3107
HP:0001510	Growth delay	1855	DVL1	OMIM:180700
HP:0001510	Growth delay	1855	DVL1	OMIM:616331
HP:0001510	Growth delay	1855	DVL1	ORPHA:3107
HP:0001510	Growth delay	55181	SMG8	OMIM:619268
HP:0001510	Growth delay	27445	PCLO	OMIM:608027
HP:0001510	Growth delay	26146	TRAF3IP1	ORPHA:3156
HP:0001510	Growth delay	9657	IQCB1	ORPHA:3156
HP:0001510	Growth delay	10806	SDCCAG8	ORPHA:3156
HP:0001510	Growth delay	10806	SDCCAG8	OMIM:615993
HP:0001510	Growth delay	10806	SDCCAG8	ORPHA:110
HP:0001510	Growth delay	27130	INVS	ORPHA:3156
HP:0001510	Growth delay	27031	NPHP3	ORPHA:3156
HP:0001510	Growth delay	22897	CEP164	ORPHA:3156
HP:0001510	Growth delay	9915	ARNT2	ORPHA:3157
HP:0001510	Growth delay	9915	ARNT2	OMIM:615926
HP:0001510	Growth delay	4053	LTBP2	OMIM:614819
HP:0001510	Growth delay	4053	LTBP2	ORPHA:3449
HP:0001510	Growth delay	128	ADH5	OMIM:619151
HP:0001510	Growth delay	64374	SIL1	OMIM:248800
HP:0001510	Growth delay	6535	SLC6A8	OMIM:300352
HP:0001510	Growth delay	6535	SLC6A8	ORPHA:52503
HP:0001510	Growth delay	652	BMP4	ORPHA:828
HP:0001510	Growth delay	857	CAV1	OMIM:612526
HP:0001510	Growth delay	10093	ARPC4	OMIM:620141
HP:0001510	Growth delay	841	CASP8	OMIM:607271
HP:0001510	Growth delay	224	ALDH3A2	ORPHA:816
HP:0001510	Growth delay	224	ALDH3A2	OMIM:270200
HP:0001510	Growth delay	4758	NEU1	ORPHA:812
HP:0001510	Growth delay	4758	NEU1	OMIM:256550
HP:0001510	Growth delay	56992	KIF15	ORPHA:261323
HP:0001510	Growth delay	4001	LMNB1	OMIM:619179
HP:0001510	Growth delay	4001	LMNB1	ORPHA:2514
HP:0001510	Growth delay	1801	DPH1	OMIM:616901
HP:0001510	Growth delay	1801	DPH1	ORPHA:459061
HP:0001510	Growth delay	412	STS	ORPHA:281090
HP:0001510	Growth delay	23116	TOGARAM1	OMIM:619185
HP:0001510	Growth delay	55148	UBR7	OMIM:619189
HP:0001510	Growth delay	10801	SEPTIN9	OMIM:162100
HP:0001510	Growth delay	10801	SEPTIN9	ORPHA:2901
HP:0001510	Growth delay	7840	ALMS1	ORPHA:64
HP:0001510	Growth delay	7840	ALMS1	OMIM:203800
HP:0001510	Growth delay	7025	NR2F1	ORPHA:401777
HP:0001510	Growth delay	4318	MMP9	ORPHA:1040
HP:0001510	Growth delay	4322	MMP13	ORPHA:1040
HP:0001510	Growth delay	4322	MMP13	OMIM:250400
HP:0001510	Growth delay	10907	TXNL4A	OMIM:608572
HP:0001510	Growth delay	10907	TXNL4A	ORPHA:1200
HP:0001510	Growth delay	3251	HPRT1	OMIM:300322
HP:0001510	Growth delay	4256	MGP	ORPHA:85202
HP:0001510	Growth delay	23261	CAMTA1	OMIM:614756
HP:0001510	Growth delay	415	ARSL	OMIM:302950
HP:0001510	Growth delay	6611	SMS	OMIM:309583
HP:0001510	Growth delay	6611	SMS	ORPHA:3063
HP:0001510	Growth delay	3339	HSPG2	ORPHA:800
HP:0001510	Growth delay	3339	HSPG2	ORPHA:1606
HP:0001510	Growth delay	3339	HSPG2	OMIM:255800
HP:0001510	Growth delay	84876	ORAI1	ORPHA:3204
HP:0001510	Growth delay	6786	STIM1	ORPHA:3204
HP:0001510	Growth delay	6786	STIM1	OMIM:185070
HP:0001510	Growth delay	6567	SLC16A2	ORPHA:59
HP:0001510	Growth delay	57724	EPG5	ORPHA:1493
HP:0001510	Growth delay	84153	RNASEH2C	ORPHA:51
HP:0001510	Growth delay	25939	SAMHD1	ORPHA:51
HP:0001510	Growth delay	79621	RNASEH2B	ORPHA:51
HP:0001510	Growth delay	134353	LSM11	ORPHA:51
HP:0001510	Growth delay	4054	LTBP3	OMIM:617809
HP:0001510	Growth delay	4054	LTBP3	OMIM:601216
HP:0001510	Growth delay	10075	HUWE1	OMIM:309590
HP:0001510	Growth delay	26160	IFT172	OMIM:615630
HP:0001510	Growth delay	26160	IFT172	ORPHA:110
HP:0001510	Growth delay	26160	IFT172	ORPHA:474
HP:0001510	Growth delay	2733	GLE1	ORPHA:1486
HP:0001510	Growth delay	29123	ANKRD11	ORPHA:2332
HP:0001510	Growth delay	29123	ANKRD11	OMIM:148050
HP:0001510	Growth delay	9759	HDAC4	ORPHA:1001
HP:0001510	Growth delay	9759	HDAC4	OMIM:600430
HP:0001510	Growth delay	4010	LMX1B	OMIM:161200
HP:0001510	Growth delay	4010	LMX1B	ORPHA:2613
HP:0001510	Growth delay	7200	TRH	OMIM:275120
HP:0001510	Growth delay	55906	ZC4H2	OMIM:314580
HP:0001510	Growth delay	55906	ZC4H2	OMIM:301041
HP:0001510	Growth delay	10560	SLC19A2	OMIM:249270
HP:0001510	Growth delay	10560	SLC19A2	ORPHA:49827
HP:0001510	Growth delay	2138	EYA1	ORPHA:2792
HP:0001510	Growth delay	5075	PAX1	ORPHA:2792
HP:0001510	Growth delay	6678	SPARC	OMIM:616507
HP:0001510	Growth delay	10804	GJB6	OMIM:129500
HP:0001510	Growth delay	4982	TNFRSF11B	OMIM:239000
HP:0001510	Growth delay	4982	TNFRSF11B	ORPHA:2801
HP:0001510	Growth delay	4041	LRP5	ORPHA:2788
HP:0001510	Growth delay	4041	LRP5	OMIM:259770
HP:0001510	Growth delay	79827	CLMP	ORPHA:2301
HP:0001510	Growth delay	860	RUNX2	ORPHA:1452
HP:0001510	Growth delay	860	RUNX2	OMIM:156510
HP:0001510	Growth delay	860	RUNX2	OMIM:119600
HP:0001510	Growth delay	760	CA2	ORPHA:2785
HP:0001510	Growth delay	760	CA2	OMIM:259730
HP:0001510	Growth delay	64840	PORCN	OMIM:305600
HP:0001510	Growth delay	131669	UROC1	OMIM:276880
HP:0001510	Growth delay	5352	PLOD2	ORPHA:2771
HP:0001510	Growth delay	5352	PLOD2	OMIM:609220
HP:0001510	Growth delay	60681	FKBP10	ORPHA:2771
HP:0001510	Growth delay	60681	FKBP10	OMIM:259450
HP:0001510	Growth delay	60681	FKBP10	OMIM:610968
HP:0001510	Growth delay	284252	KCTD1	OMIM:181270
HP:0001510	Growth delay	122553	TRAPPC6B	OMIM:617862
HP:0001510	Growth delay	2893	GRIA4	OMIM:617864
HP:0001510	Growth delay	271	AMPD2	OMIM:615686
HP:0001510	Growth delay	271	AMPD2	ORPHA:401805
HP:0001510	Growth delay	139285	AMER1	OMIM:300373
HP:0001510	Growth delay	4094	MAF	OMIM:601088
HP:0001510	Growth delay	4094	MAF	ORPHA:1272
HP:0001510	Growth delay	650	BMP2	OMIM:617877
HP:0001510	Growth delay	650	BMP2	ORPHA:261295
HP:0001510	Growth delay	51099	ABHD5	ORPHA:98907
HP:0001510	Growth delay	57104	PNPLA2	ORPHA:98908
HP:0001510	Growth delay	57104	PNPLA2	OMIM:610717
HP:0001510	Growth delay	2806	GOT2	OMIM:618721
HP:0001510	Growth delay	84700	MYO18B	OMIM:616549
HP:0001510	Growth delay	4750	NEK1	ORPHA:2751
HP:0001510	Growth delay	4750	NEK1	OMIM:252100
HP:0001510	Growth delay	8086	AAAS	OMIM:231550
HP:0001510	Growth delay	8086	AAAS	ORPHA:869
HP:0001510	Growth delay	83452	RAB33B	OMIM:615222
HP:0001510	Growth delay	7471	WNT1	OMIM:615220
HP:0001510	Growth delay	9241	NOG	ORPHA:1412
HP:0001510	Growth delay	8626	TP63	ORPHA:1896
HP:0001510	Growth delay	8626	TP63	OMIM:129400
HP:0001510	Growth delay	51763	INPP5K	OMIM:617404
HP:0001510	Growth delay	6655	SOS2	OMIM:616559
HP:0001510	Growth delay	6655	SOS2	ORPHA:648
HP:0001510	Growth delay	204219	CERS3	ORPHA:79394
HP:0001510	Growth delay	285848	PNPLA1	ORPHA:79394
HP:0001510	Growth delay	255758	DYNLT2B	OMIM:617405
HP:0001510	Growth delay	246329	STAC3	OMIM:255995
HP:0001510	Growth delay	246329	STAC3	ORPHA:168572
HP:0001510	Growth delay	10617	STAMBP	OMIM:614261
HP:0001510	Growth delay	23417	MLYCD	OMIM:248360
HP:0001510	Growth delay	755	CFAP410	OMIM:602271
HP:0001510	Growth delay	755	CFAP410	OMIM:617547
HP:0001510	Growth delay	79848	CSPP1	ORPHA:397715
HP:0001510	Growth delay	9786	KIAA0586	ORPHA:397715
HP:0001510	Growth delay	114803	MYSM1	ORPHA:508542
HP:0001510	Growth delay	114803	MYSM1	OMIM:618116
HP:0001510	Growth delay	10730	YME1L1	OMIM:617302
HP:0001510	Growth delay	4286	MITF	OMIM:617306
HP:0001510	Growth delay	7486	WRN	OMIM:277700
HP:0001510	Growth delay	7486	WRN	ORPHA:902
HP:0001510	Growth delay	121340	SP7	ORPHA:1513
HP:0001510	Growth delay	121340	SP7	OMIM:613849
HP:0001510	Growth delay	1584	CYP11B1	ORPHA:90795
HP:0001510	Growth delay	1584	CYP11B1	OMIM:202010
HP:0001510	Growth delay	60561	RINT1	OMIM:618641
HP:0001510	Growth delay	91869	RFT1	ORPHA:244310
HP:0001510	Growth delay	91869	RFT1	OMIM:612015
HP:0001510	Growth delay	497661	C18orf32	OMIM:619985
HP:0001510	Growth delay	26057	ANKRD17	OMIM:619504
HP:0001510	Growth delay	3737	KCNA2	ORPHA:442835
HP:0001510	Growth delay	1759	DNM1	ORPHA:442835
HP:0001510	Growth delay	8120	AP3B2	ORPHA:442835
HP:0001510	Growth delay	10991	SLC38A3	ORPHA:442835
HP:0001510	Growth delay	3747	KCNC2	ORPHA:442835
HP:0001510	Growth delay	1917	EEF1A2	ORPHA:442835
HP:0001510	Growth delay	23219	FBXO28	ORPHA:442835
HP:0001510	Growth delay	2561	GABRB2	ORPHA:442835
HP:0001510	Growth delay	8831	SYNGAP1	ORPHA:442835
HP:0001510	Growth delay	2558	GABRA5	ORPHA:442835
HP:0001510	Growth delay	2906	GRIN2D	ORPHA:442835
HP:0001510	Growth delay	1213	CLTC	ORPHA:442835
HP:0001510	Growth delay	23334	SZT2	ORPHA:442835
HP:0001510	Growth delay	348980	HCN1	ORPHA:442835
HP:0001510	Growth delay	25977	NECAP1	ORPHA:442835
HP:0001510	Growth delay	23241	PACS2	ORPHA:442835
HP:0001510	Growth delay	6334	SCN8A	ORPHA:442835
HP:0001510	Growth delay	2555	GABRA2	ORPHA:442835
HP:0001510	Growth delay	55152	DALRD3	ORPHA:442835
HP:0001510	Growth delay	26999	CYFIP2	ORPHA:442835
HP:0001510	Growth delay	4915	NTRK2	ORPHA:442835
HP:0001510	Growth delay	25973	PARS2	ORPHA:442835
HP:0001510	Growth delay	23097	CDK19	ORPHA:442835
HP:0001510	Growth delay	2257	FGF12	ORPHA:442835
HP:0001510	Growth delay	5530	PPP3CA	ORPHA:442835
HP:0001510	Growth delay	5530	PPP3CA	OMIM:618265
HP:0001510	Growth delay	5530	PPP3CA	OMIM:617711
HP:0001510	Growth delay	478	ATP1A3	ORPHA:442835
HP:0001510	Growth delay	22906	TRAK1	ORPHA:442835
HP:0001510	Growth delay	2566	GABRG2	ORPHA:442835
HP:0001510	Growth delay	7532	YWHAG	ORPHA:442835
HP:0001510	Growth delay	79876	UBA5	ORPHA:442835
HP:0001510	Growth delay	79876	UBA5	OMIM:617132
HP:0001510	Growth delay	6328	SCN3A	ORPHA:442835
HP:0001510	Growth delay	781	CACNA2D1	ORPHA:442835
HP:0001510	Growth delay	10659	CELF2	ORPHA:442835
HP:0001510	Growth delay	774	CACNA1B	ORPHA:442835
HP:0001510	Growth delay	51412	ACTL6B	ORPHA:442835
HP:0001510	Growth delay	6506	SLC1A2	ORPHA:442835
HP:0001510	Growth delay	8867	SYNJ1	ORPHA:442835
HP:0001510	Growth delay	477	ATP1A2	ORPHA:442835
HP:0001510	Growth delay	3745	KCNB1	ORPHA:442835
HP:0001510	Growth delay	284111	SLC13A5	ORPHA:442835
HP:0001510	Growth delay	284111	SLC13A5	ORPHA:1946
HP:0001510	Growth delay	22866	CNKSR2	ORPHA:442835
HP:0001510	Growth delay	773	CACNA1A	ORPHA:442835
HP:0001510	Growth delay	6323	SCN1A	ORPHA:442835
HP:0001510	Growth delay	55623	THUMPD1	OMIM:619989
HP:0001510	Growth delay	3476	IGBP1	ORPHA:52055
HP:0001510	Growth delay	3476	IGBP1	OMIM:300472
HP:0001510	Growth delay	253738	EBF3	OMIM:617330
HP:0001510	Growth delay	253738	EBF3	ORPHA:96148
HP:0001510	Growth delay	85301	COL27A1	OMIM:615155
HP:0001510	Growth delay	9453	GGPS1	OMIM:619518
HP:0001510	Growth delay	1660	DHX9	OMIM:620988
HP:0001510	Growth delay	6621	SNAPC4	OMIM:620515
HP:0001510	Growth delay	4626	MYH8	OMIM:158300
HP:0001510	Growth delay	4626	MYH8	ORPHA:3377
HP:0001510	Growth delay	3835	KIF22	OMIM:603546
HP:0001510	Growth delay	3835	KIF22	ORPHA:93360
HP:0001510	Growth delay	79989	IFT56	OMIM:619534
HP:0001510	Growth delay	9922	IQSEC1	OMIM:618687
HP:0001510	Growth delay	85365	ALG2	OMIM:607906
HP:0001510	Growth delay	4193	MDM2	OMIM:618681
HP:0001510	Growth delay	84522	JAGN1	OMIM:616022
HP:0001510	Growth delay	57479	PRR12	OMIM:619539
HP:0001510	Growth delay	79977	GRHL2	OMIM:616029
HP:0001510	Growth delay	79641	ROGDI	ORPHA:1946
HP:0001510	Growth delay	10058	ABCB6	ORPHA:241
HP:0001510	Growth delay	6261	RYR1	OMIM:619542
HP:0001510	Growth delay	6654	SOS1	OMIM:610733
HP:0001510	Growth delay	6654	SOS1	ORPHA:648
HP:0001510	Growth delay	6778	STAT6	OMIM:620532
HP:0001510	Growth delay	8803	SUCLA2	ORPHA:1933
HP:0001510	Growth delay	8803	SUCLA2	OMIM:612073
HP:0001510	Growth delay	6909	TBX2	OMIM:618223
HP:0001510	Growth delay	5745	PTH1R	OMIM:600002
HP:0001510	Growth delay	5745	PTH1R	ORPHA:79106
HP:0001510	Growth delay	58484	NLRC4	OMIM:616050
HP:0001510	Growth delay	9342	SNAP29	ORPHA:66631
HP:0001510	Growth delay	26128	KIFBP	ORPHA:66629
HP:0001510	Growth delay	57551	TAOK1	OMIM:619575
HP:0001510	Growth delay	23203	PMPCA	OMIM:213200
HP:0001510	Growth delay	23203	PMPCA	ORPHA:1170
HP:0001510	Growth delay	10483	SEC23B	ORPHA:201
HP:0001510	Growth delay	5728	PTEN	ORPHA:201
HP:0001510	Growth delay	5728	PTEN	ORPHA:79076
HP:0001510	Growth delay	5728	PTEN	ORPHA:109
HP:0001510	Growth delay	6391	SDHC	ORPHA:201
HP:0001510	Growth delay	207	AKT1	ORPHA:201
HP:0001510	Growth delay	205717	USF3	ORPHA:201
HP:0001510	Growth delay	5290	PIK3CA	ORPHA:201
HP:0001510	Growth delay	100144748	KLLN	ORPHA:201
HP:0001510	Growth delay	5277	PIGA	OMIM:300868
HP:0001510	Growth delay	23384	SPECC1L	OMIM:145420
HP:0001510	Growth delay	4990	SIX6	OMIM:206900
HP:0001510	Growth delay	1300	COL10A1	OMIM:156500
HP:0001510	Growth delay	3975	LHX1	ORPHA:261265
HP:0001510	Growth delay	6928	HNF1B	ORPHA:261265
HP:0001510	Growth delay	6928	HNF1B	ORPHA:2578
HP:0001510	Growth delay	1277	COL1A1	OMIM:619115
HP:0001510	Growth delay	1277	COL1A1	OMIM:166220
HP:0001510	Growth delay	29895	MYL11	OMIM:619110
HP:0001510	Growth delay	400916	CHCHD10	ORPHA:457050
HP:0001510	Growth delay	400916	CHCHD10	OMIM:616209
HP:0001510	Growth delay	79809	TTC21B	OMIM:613819
HP:0001510	Growth delay	79809	TTC21B	ORPHA:474
HP:0001510	Growth delay	10651	MTX2	OMIM:619127
HP:0001510	Growth delay	1278	COL1A2	OMIM:619120
HP:0001510	Growth delay	1278	COL1A2	OMIM:166220
HP:0001510	Growth delay	1278	COL1A2	ORPHA:230851
HP:0001510	Growth delay	22983	MAST1	OMIM:618273
HP:0001510	Growth delay	28956	LAMTOR2	OMIM:610798
HP:0001510	Growth delay	28956	LAMTOR2	ORPHA:90023
HP:0001510	Growth delay	4148	MATN3	OMIM:607078
HP:0001510	Growth delay	4148	MATN3	ORPHA:156728
HP:0001510	Growth delay	9895	TECPR2	ORPHA:320385
HP:0001510	Growth delay	9895	TECPR2	OMIM:615031
HP:0001510	Growth delay	23259	DDHD2	ORPHA:320380
HP:0001510	Growth delay	23259	DDHD2	OMIM:615033
HP:0001510	Growth delay	22800	RRAS2	ORPHA:648
HP:0001510	Growth delay	867	CBL	ORPHA:648
HP:0001510	Growth delay	867	CBL	OMIM:613563
HP:0001510	Growth delay	6016	RIT1	ORPHA:648
HP:0001510	Growth delay	6016	RIT1	OMIM:615355
HP:0001510	Growth delay	6237	RRAS	ORPHA:648
HP:0001510	Growth delay	22808	MRAS	ORPHA:648
HP:0001510	Growth delay	22808	MRAS	OMIM:618499
HP:0001510	Growth delay	200734	SPRED2	ORPHA:648
HP:0001510	Growth delay	200734	SPRED2	OMIM:619745
HP:0001510	Growth delay	5922	RASA2	ORPHA:648
HP:0001510	Growth delay	4508	MT-ATP6	ORPHA:644
HP:0001510	Growth delay	4508	MT-ATP6	ORPHA:254913
HP:0001510	Growth delay	8665	EIF3F	OMIM:618295
HP:0001510	Growth delay	871	SERPINH1	OMIM:613848
HP:0001510	Growth delay	11005	SPINK5	ORPHA:634
HP:0001510	Growth delay	7337	UBE3A	ORPHA:238446
HP:0001510	Growth delay	1119	CHKA	OMIM:620023
HP:0001510	Growth delay	8496	PPFIBP1	OMIM:620024
HP:0001510	Growth delay	5111	PCNA	OMIM:615919
HP:0001510	Growth delay	5111	PCNA	ORPHA:438134
HP:0001510	Growth delay	2617	GARS1	OMIM:619042
HP:0001510	Growth delay	162	AP1B1	OMIM:242150
HP:0001510	Growth delay	1184	CLCN5	OMIM:300009
HP:0001510	Growth delay	1184	CLCN5	OMIM:300554
HP:0001510	Growth delay	1184	CLCN5	OMIM:308990
HP:0001510	Growth delay	23431	AP4E1	OMIM:613744
HP:0001510	Growth delay	23431	AP4E1	ORPHA:280763
HP:0001510	Growth delay	5744	PTHLH	ORPHA:93387
HP:0001510	Growth delay	5744	PTHLH	OMIM:613382
HP:0001510	Growth delay	658	BMPR1B	ORPHA:93384
HP:0001510	Growth delay	658	BMPR1B	ORPHA:93388
HP:0001510	Growth delay	658	BMPR1B	ORPHA:2639
HP:0001510	Growth delay	51204	TACO1	OMIM:619052
HP:0001510	Growth delay	28958	COA3	OMIM:619058
HP:0001510	Growth delay	8647	ABCB11	OMIM:601847
HP:0001510	Growth delay	1351	COX8A	OMIM:619059
HP:0001510	Growth delay	514	ATP5F1E	ORPHA:254913
HP:0001510	Growth delay	513	ATP5F1D	ORPHA:254913
HP:0001510	Growth delay	513	ATP5F1D	OMIM:618120
HP:0001510	Growth delay	84833	ATP5MK	ORPHA:254913
HP:0001510	Growth delay	91647	ATPAF2	ORPHA:254913
HP:0001510	Growth delay	9739	SETD1A	OMIM:619056
HP:0001510	Growth delay	340024	SLC6A19	OMIM:234500
HP:0001510	Growth delay	340024	SLC6A19	ORPHA:2116
HP:0001510	Growth delay	1327	COX4I1	OMIM:619060
HP:0001510	Growth delay	54476	RNF216	ORPHA:1173
HP:0001510	Growth delay	4212	MEIS2	OMIM:600987
HP:0001510	Growth delay	4212	MEIS2	ORPHA:261190
HP:0001510	Growth delay	4697	NDUFA4	OMIM:619065
HP:0001510	Growth delay	1301	COL11A1	ORPHA:2021
HP:0001510	Growth delay	1301	COL11A1	ORPHA:560
HP:0001510	Growth delay	1301	COL11A1	OMIM:154780
HP:0001510	Growth delay	1302	COL11A2	ORPHA:2021
HP:0001510	Growth delay	1302	COL11A2	OMIM:215150
HP:0001510	Growth delay	10382	TUBB4A	OMIM:612438
HP:0001510	Growth delay	6197	RPS6KA3	ORPHA:276630
HP:0001510	Growth delay	6197	RPS6KA3	OMIM:303600
HP:0001510	Growth delay	6197	RPS6KA3	ORPHA:192
HP:0001510	Growth delay	2335	FN1	OMIM:184255
HP:0001510	Growth delay	2335	FN1	ORPHA:93315
HP:0001510	Growth delay	1802	DPH2	OMIM:620062
HP:0001510	Growth delay	1802	DPH2	ORPHA:459061
HP:0001510	Growth delay	9719	ADAMTSL2	OMIM:231050
HP:0001510	Growth delay	51611	DPH5	OMIM:620070
HP:0001510	Growth delay	8905	AP1S2	ORPHA:85329
HP:0001510	Growth delay	9321	TRIP11	OMIM:184260
HP:0001510	Growth delay	9321	TRIP11	ORPHA:166272
HP:0001510	Growth delay	25970	SH2B1	ORPHA:329249
HP:0001510	Growth delay	8838	CCN6	ORPHA:1159
HP:0001510	Growth delay	3178	HNRNPA1	ORPHA:52430
HP:0001510	Growth delay	7415	VCP	ORPHA:52430
HP:0001510	Growth delay	3181	HNRNPA2B1	ORPHA:52430
HP:0001510	Growth delay	3187	HNRNPH1	OMIM:620083
HP:0001510	Growth delay	4920	ROR2	OMIM:268310
HP:0001510	Growth delay	22880	MORC2	OMIM:619090
HP:0001510	Growth delay	7140	TNNT3	ORPHA:1147
HP:0001510	Growth delay	7136	TNNI2	ORPHA:1147
HP:0001510	Growth delay	7136	TNNI2	OMIM:601680
HP:0001510	Growth delay	8195	MKKS	ORPHA:2473
HP:0001510	Growth delay	8195	MKKS	ORPHA:110
HP:0001510	Growth delay	9775	EIF4A3	OMIM:268305
HP:0001510	Growth delay	29072	SETD2	OMIM:616831
HP:0001510	Growth delay	51025	PAM16	OMIM:613320
HP:0001510	Growth delay	3897	L1CAM	ORPHA:2466
HP:0001510	Growth delay	3897	L1CAM	OMIM:303350
HP:0001510	Growth delay	4352	MPL	ORPHA:3319
HP:0001510	Growth delay	7066	THPO	ORPHA:3319
HP:0001510	Growth delay	10664	CTCF	OMIM:615502
HP:0001510	Growth delay	55112	DYNC2I1	OMIM:615503
HP:0001510	Growth delay	55112	DYNC2I1	ORPHA:474
HP:0001510	Growth delay	9780	PIEZO1	OMIM:616843
HP:0001510	Growth delay	22845	DOLK	ORPHA:91131
HP:0001510	Growth delay	411	ARSB	OMIM:253200
HP:0001510	Growth delay	10525	HYOU1	OMIM:233600
HP:0001510	Growth delay	26224	FBXL3	OMIM:606220
HP:0001510	Growth delay	11253	MAN1B1	OMIM:614202
HP:0001510	Growth delay	80185	TTI2	OMIM:615541
HP:0001510	Growth delay	80185	TTI2	ORPHA:391307
HP:0001510	Growth delay	3758	KCNJ1	OMIM:241200
HP:0001510	Growth delay	547	KIF1A	OMIM:614213
HP:0001510	Growth delay	1001	CDH3	ORPHA:1573
HP:0001510	Growth delay	284086	NEK8	OMIM:620903
HP:0001510	Growth delay	1857	DVL3	OMIM:616894
HP:0001510	Growth delay	1857	DVL3	ORPHA:3107
HP:0001510	Growth delay	83737	ITCH	OMIM:613385
HP:0001510	Growth delay	9215	LARGE1	OMIM:608840
HP:0001510	Growth delay	10717	AP4B1	ORPHA:280763
HP:0001510	Growth delay	10717	AP4B1	OMIM:614066
HP:0001510	Growth delay	9179	AP4M1	ORPHA:280763
HP:0001510	Growth delay	11154	AP4S1	ORPHA:280763
HP:0001510	Growth delay	11154	AP4S1	OMIM:614067
HP:0001510	Growth delay	2186	BPTF	OMIM:617755
HP:0001510	Growth delay	2990	GUSB	OMIM:253220
HP:0001510	Growth delay	6913	TBX15	ORPHA:93333
HP:0001510	Growth delay	9469	CHST3	OMIM:245600
HP:0001510	Growth delay	9469	CHST3	OMIM:143095
HP:0001510	Growth delay	26229	B3GAT3	OMIM:245600
HP:0001510	Growth delay	23404	EXOSC2	OMIM:617763
HP:0001510	Growth delay	55331	ACER3	OMIM:617762
HP:0001510	Growth delay	92935	MARS2	OMIM:616430
HP:0001510	Growth delay	10082	GPC6	ORPHA:93329
HP:0001510	Growth delay	5238	PGM3	ORPHA:443811
HP:0001510	Growth delay	23498	HAAO	OMIM:617660
HP:0001510	Growth delay	64412	GZF1	OMIM:617662
HP:0001510	Growth delay	8942	KYNU	OMIM:617661
HP:0001510	Growth delay	1841	DTYMK	OMIM:619847
HP:0001510	Growth delay	5424	POLD1	OMIM:620836
HP:0001510	Growth delay	10686	CLDN16	OMIM:248250
HP:0001510	Growth delay	3149	HMGB3	OMIM:300915
HP:0001510	Growth delay	3716	JAK1	OMIM:618999
HP:0001510	Growth delay	818	CAMK2G	OMIM:618522
HP:0001510	Growth delay	10606	PAICS	OMIM:619859
HP:0001510	Growth delay	64359	NXN	OMIM:618529
HP:0001510	Growth delay	5139	PDE3A	OMIM:112410
HP:0001510	Growth delay	5139	PDE3A	ORPHA:1276
HP:0001510	Growth delay	10484	SEC23A	OMIM:607812
HP:0001510	Growth delay	10484	SEC23A	ORPHA:50814
HP:0001510	Growth delay	8550	MAPKAPK5	OMIM:619869
HP:0001510	Growth delay	11193	WBP4	OMIM:620852
HP:0001510	Growth delay	81794	ADAMTS10	OMIM:277600
HP:0001510	Growth delay	81794	ADAMTS10	ORPHA:3449
HP:0001510	Growth delay	92482	BBIP1	ORPHA:110
HP:0001510	Growth delay	11020	IFT27	ORPHA:110
HP:0001510	Growth delay	582	BBS1	ORPHA:110
HP:0001510	Growth delay	49855	SCAPER	ORPHA:110
HP:0001510	Growth delay	51057	WDPCP	ORPHA:110
HP:0001510	Growth delay	132320	SCLT1	ORPHA:110
HP:0001510	Growth delay	27241	BBS9	ORPHA:110
HP:0001510	Growth delay	84984	CEP19	ORPHA:110
HP:0001510	Growth delay	22954	TRIM32	ORPHA:110
HP:0001510	Growth delay	79738	BBS10	ORPHA:110
HP:0001510	Growth delay	123016	TTC8	ORPHA:110
HP:0001510	Growth delay	585	BBS4	ORPHA:110
HP:0001510	Growth delay	54585	LZTFL1	ORPHA:110
HP:0001510	Growth delay	55212	BBS7	ORPHA:110
HP:0001510	Growth delay	166379	BBS12	ORPHA:110
HP:0001510	Growth delay	157657	CFAP418	ORPHA:110
HP:0001510	Growth delay	84100	ARL6	ORPHA:110
HP:0001510	Growth delay	129880	BBS5	ORPHA:110
HP:0001510	Growth delay	80173	IFT74	ORPHA:110
HP:0001510	Growth delay	402381	SOHLH1	OMIM:617690
HP:0001510	Growth delay	3590	IL11RA	OMIM:614188
HP:0001510	Growth delay	55773	TBC1D23	OMIM:617695
HP:0001510	Growth delay	3098	HK1	OMIM:618547
HP:0001510	Growth delay	5590	PRKCZ	ORPHA:1606
HP:0001510	Growth delay	2563	GABRD	ORPHA:1606
HP:0001510	Growth delay	23013	SPEN	ORPHA:1606
HP:0001510	Growth delay	8510	MMP23B	ORPHA:1606
HP:0001510	Growth delay	7798	LUZP1	ORPHA:1606
HP:0001510	Growth delay	6497	SKI	ORPHA:1606
HP:0001510	Growth delay	10630	PDPN	ORPHA:1606
HP:0001510	Growth delay	10277	UBE4B	ORPHA:1606
HP:0001510	Growth delay	8514	KCNAB2	ORPHA:1606
HP:0001510	Growth delay	63976	PRDM16	ORPHA:1606
HP:0001510	Growth delay	54897	CASZ1	ORPHA:1606
HP:0001510	Growth delay	285362	SUMF1	ORPHA:585
HP:0001510	Growth delay	285362	SUMF1	OMIM:272200
HP:0001510	Growth delay	57679	ALS2	OMIM:205100
HP:0001510	Growth delay	29110	TBK1	OMIM:620880
HP:0001510	Growth delay	9742	IFT140	OMIM:266920
HP:0001510	Growth delay	9742	IFT140	ORPHA:474
HP:0001510	Growth delay	205327	C2orf69	OMIM:619423
HP:0001510	Growth delay	26173	INTS1	OMIM:618571
HP:0001510	Growth delay	9427	ECEL1	OMIM:615065
HP:0001510	Growth delay	55656	INTS8	OMIM:618572
HP:0001510	Growth delay	55151	TMEM38B	OMIM:615066
HP:0001510	Growth delay	171546	SPTSSA	OMIM:620416
HP:0001510	Growth delay	171546	SPTSSA	OMIM:620417
HP:0001510	Growth delay	165918	RNF168	OMIM:611943
HP:0001510	Growth delay	165918	RNF168	ORPHA:420741
HP:0001510	Growth delay	9949	AMMECR1	OMIM:300990
HP:0001510	Growth delay	4558	MT-TF	ORPHA:551
HP:0001510	Growth delay	4558	MT-TF	ORPHA:550
HP:0001510	Growth delay	4549	MT-RNR1	ORPHA:551
HP:0001510	Growth delay	4574	MT-TS1	ORPHA:551
HP:0001510	Growth delay	4574	MT-TS1	ORPHA:550
HP:0001510	Growth delay	4575	MT-TS2	ORPHA:551
HP:0001510	Growth delay	4575	MT-TS2	ORPHA:550
HP:0001510	Growth delay	4571	MT-TP	ORPHA:551
HP:0001510	Growth delay	4572	MT-TQ	ORPHA:551
HP:0001510	Growth delay	4572	MT-TQ	ORPHA:550
HP:0001510	Growth delay	4540	MT-ND5	ORPHA:551
HP:0001510	Growth delay	4540	MT-ND5	ORPHA:550
HP:0001510	Growth delay	4566	MT-TK	ORPHA:551
HP:0001510	Growth delay	4564	MT-TH	ORPHA:551
HP:0001510	Growth delay	4564	MT-TH	ORPHA:550
HP:0001510	Growth delay	4512	MT-CO1	ORPHA:550
HP:0001510	Growth delay	4513	MT-CO2	ORPHA:550
HP:0001510	Growth delay	4514	MT-CO3	ORPHA:550
HP:0001510	Growth delay	4578	MT-TW	ORPHA:550
HP:0001510	Growth delay	4541	MT-ND6	ORPHA:550
HP:0001510	Growth delay	4538	MT-ND4	ORPHA:550
HP:0001510	Growth delay	56896	DPYSL5	OMIM:619435
HP:0001510	Growth delay	56896	DPYSL5	ORPHA:7
HP:0001510	Growth delay	6418	SET	OMIM:618106
HP:0001510	Growth delay	7707	ZNF148	OMIM:617260
HP:0001510	Growth delay	3778	KCNMA1	OMIM:618596
HP:0001510	Growth delay	23729	SHPK	ORPHA:440713
HP:0001510	Growth delay	55250	ELP2	OMIM:617270
HP:0001510	Growth delay	3039	HBA1	ORPHA:98791
HP:0001510	Growth delay	3040	HBA2	ORPHA:98791
HP:0001510	Growth delay	8888	MCM3AP	OMIM:618124
HP:0001510	Growth delay	9675	TTI1	OMIM:620445
HP:0001510	Growth delay	3858	KRT10	OMIM:609165
HP:0001510	Growth delay	6557	SLC12A1	OMIM:601678
HP:0001510	Growth delay	633	BGN	OMIM:300989
HP:0001510	Growth delay	146206	CARMIL2	OMIM:618131
HP:0001510	Growth delay	3188	HNRNPH2	OMIM:300986
HP:0001510	Growth delay	1974	EIF4A2	OMIM:620455
HP:0001510	Growth delay	6874	TAF4	OMIM:620450
HP:0001510	Growth delay	4613	MYCN	ORPHA:391641
HP:0001510	Growth delay	57187	THOC2	OMIM:300957
HP:0001510	Growth delay	57187	THOC2	ORPHA:457240
HP:0001510	Growth delay	10526	IPO8	OMIM:619472
HP:0001510	Growth delay	2892	GRIA3	ORPHA:364028
HP:0001510	Growth delay	2892	GRIA3	OMIM:300699
HP:0001510	Growth delay	4361	MRE11	ORPHA:251347
HP:0001510	Growth delay	64327	LMBR1	ORPHA:988
HP:0001510	Growth delay	9060	PAPSS2	OMIM:612847
HP:0001510	Growth delay	10682	EBP	OMIM:300960
HP:0001510	Growth delay	10682	EBP	ORPHA:401973
HP:0001510	Growth delay	10682	EBP	ORPHA:35173
HP:0001510	Growth delay	2760	GM2A	ORPHA:309246
HP:0001510	Growth delay	60676	PAPPA2	OMIM:619489
HP:0001510	Growth delay	2998	GYS2	ORPHA:2089
HP:0001510	Growth delay	407975	MIR17HG	ORPHA:391646
HP:0001510	Growth delay	55599	RNPC3	OMIM:618160
HP:0001510	Growth delay	5317	PKP1	ORPHA:158668
HP:0001510	Growth delay	2193	FARSA	OMIM:619013
HP:0001510	Growth delay	203190	LGI3	OMIM:620007
HP:0001510	Growth delay	28952	CCDC22	ORPHA:7
HP:0001510	Growth delay	57020	VPS35L	ORPHA:7
HP:0001510	Growth delay	1496	CTNNA2	OMIM:618174
HP:0001510	Growth delay	26276	VPS33B	OMIM:620010
HP:0001510	Growth delay	57539	WDR35	OMIM:613610
HP:0001510	Growth delay	57539	WDR35	OMIM:614091
HP:0001510	Growth delay	123263	MTFMT	OMIM:614947
HP:0001510	Growth delay	9839	ZEB2	OMIM:235730
HP:0001510	Growth delay	9839	ZEB2	ORPHA:261552
HP:0001510	Growth delay	9839	ZEB2	ORPHA:261537
HP:0001510	Growth delay	80055	PGAP1	OMIM:615802
HP:0001510	Growth delay	10225	CD96	OMIM:211750
HP:0001510	Growth delay	10225	CD96	ORPHA:1308
HP:0001510	Growth delay	3766	KCNJ10	OMIM:612780
HP:0001510	Growth delay	80204	FBXO11	OMIM:618089
HP:0001510	Growth delay	50814	NSDHL	OMIM:308050
HP:0001510	Growth delay	23325	WASHC4	OMIM:615817
HP:0001510	Growth delay	6473	SHOX	OMIM:300582
HP:0001510	Growth delay	6473	SHOX	ORPHA:314795
HP:0001510	Growth delay	57531	HACE1	ORPHA:464282
HP:0001510	Growth delay	57531	HACE1	OMIM:616756
HP:0001510	Growth delay	55697	VAC14	ORPHA:3472
HP:0001510	Growth delay	2903	GRIN2A	OMIM:245570
HP:0001510	Growth delay	2903	GRIN2A	ORPHA:289266
HP:0001510	Growth delay	5063	PAK3	OMIM:300558
HP:0001510	Growth delay	3748	KCNC3	ORPHA:98768
HP:0001510	Growth delay	54499	TMCO1	OMIM:213980
HP:0001510	Growth delay	54499	TMCO1	ORPHA:1394
HP:0001510	Growth delay	10436	EMG1	ORPHA:1270
HP:0001510	Growth delay	81887	LAS1L	ORPHA:3459
HP:0001510	Growth delay	10661	KLF1	OMIM:613673
HP:0001510	Growth delay	57393	CLTRN	ORPHA:2116
HP:0001510	Growth delay	170691	ADAMTS17	ORPHA:3449
HP:0001510	Growth delay	170691	ADAMTS17	OMIM:613195
HP:0001510	Growth delay	55275	VPS53	OMIM:615851
HP:0001510	Growth delay	64116	SLC39A8	ORPHA:468699
HP:0001510	Growth delay	64116	SLC39A8	OMIM:616721
HP:0001510	Growth delay	91252	SLC39A13	OMIM:612350
HP:0001510	Growth delay	355	FAS	ORPHA:3437
HP:0001510	Growth delay	26191	PTPN22	ORPHA:3437
HP:0001510	Growth delay	124997	WDR81	OMIM:610185
HP:0001510	Growth delay	124997	WDR81	ORPHA:1766
HP:0001510	Growth delay	23028	KDM1A	OMIM:616728
HP:0001510	Growth delay	4854	NOTCH3	OMIM:130720
HP:0001510	Growth delay	10982	MAPRE2	OMIM:616734
HP:0001510	Growth delay	10982	MAPRE2	ORPHA:2505
HP:0001510	Growth delay	2917	GRM7	OMIM:618922
HP:0001510	Growth delay	176	ACAN	OMIM:165800
HP:0001510	Growth delay	8471	IRS4	OMIM:301035
HP:0001510	Growth delay	79415	CYBC1	OMIM:618935
HP:0001510	Growth delay	9343	EFTUD2	ORPHA:79113
HP:0001510	Growth delay	9343	EFTUD2	OMIM:610536
HP:0001510	Growth delay	2517	FUCA1	OMIM:230000
HP:0001510	Growth delay	23247	KATNIP	OMIM:616784
HP:0001510	Growth delay	1804	DPP6	ORPHA:2514
HP:0001510	Growth delay	1804	DPP6	OMIM:616311
HP:0001510	Growth delay	8192	CLPP	OMIM:614129
HP:0001510	Growth delay	9939	RBM8A	OMIM:274000
HP:0001510	Growth delay	5286	PIK3C2A	ORPHA:557003
HP:0001510	Growth delay	5286	PIK3C2A	OMIM:618440
HP:0001510	Growth delay	203068	TUBB	ORPHA:2505
HP:0001510	Growth delay	10749	KIF1C	ORPHA:397946
HP:0001510	Growth delay	104	ADARB1	OMIM:618862
HP:0001510	Growth delay	83932	SPRTN	OMIM:616200
HP:0001510	Growth delay	2972	BRF1	OMIM:616202
HP:0001510	Growth delay	347733	TUBB2B	ORPHA:1766
HP:0001510	Growth delay	51761	ATP8A2	ORPHA:1766
HP:0001510	Growth delay	767	CA8	ORPHA:1766
HP:0001510	Growth delay	3021	H3-3B	OMIM:619721
HP:0001510	Growth delay	1644	DDC	ORPHA:35708
HP:0001510	Growth delay	55790	CSGALNACT1	OMIM:618870
HP:0001510	Growth delay	79639	TMEM53	OMIM:619727
HP:0001510	Growth delay	84572	GNPTG	OMIM:252605
HP:0001510	Growth delay	716	C1S	ORPHA:75392
HP:0001510	Growth delay	715	C1R	ORPHA:75392
HP:0001510	Growth delay	2590	GALNT2	OMIM:618885
HP:0001510	Growth delay	56172	ANKH	OMIM:123000
HP:0001510	Growth delay	90993	CREB3L1	OMIM:616229
HP:0001510	Growth delay	23761	PISD	OMIM:618889
HP:0001510	Growth delay	5442	POLRMT	OMIM:619743
HP:0001510	Growth delay	55012	PPP2R3C	OMIM:618419
HP:0001510	Growth delay	1789	DNMT3B	OMIM:242860
HP:0001510	Growth delay	1789	DNMT3B	ORPHA:2268
HP:0001510	Growth delay	153241	CEP120	ORPHA:474
HP:0001510	Growth delay	57560	IFT80	ORPHA:474
HP:0001510	Growth delay	89891	DYNC2I2	ORPHA:474
HP:0001510	Growth delay	1947	EFNB1	OMIM:304110
HP:0001510	Growth delay	339983	NAT8L	OMIM:614063
HP:0001510	Growth delay	145258	GSC	OMIM:602471
HP:0001510	Growth delay	54928	BPNT2	OMIM:614078
HP:0001510	Growth delay	51098	IFT52	OMIM:617102
HP:0001510	Growth delay	53335	BCL11A	OMIM:617101
HP:0001510	Growth delay	54487	DGCR8	OMIM:192430
HP:0001510	Growth delay	8214	DGCR6	OMIM:192430
HP:0001510	Growth delay	8220	ESS2	OMIM:192430
HP:0001510	Growth delay	9993	DGCR2	OMIM:192430
HP:0001510	Growth delay	23162	MAPK8IP3	OMIM:618443
HP:0001510	Growth delay	249	ALPL	OMIM:241510
HP:0001510	Growth delay	387733	IFITM5	OMIM:610967
HP:0001510	Growth delay	26100	WIPI2	OMIM:618453
HP:0001510	Growth delay	8295	TRRAP	OMIM:618454
HP:0001510	Growth delay	112752	IFT43	OMIM:614099
HP:0001510	Growth delay	27145	FILIP1	OMIM:620775
HP:0001510	Growth delay	78987	CRELD1	OMIM:620771
HP:0001510	Growth delay	6492	SIM1	ORPHA:369873
HP:0001510	Growth delay	79903	NAA60	OMIM:620786
HP:0001510	Growth delay	6650	CAPN15	OMIM:619318
HP:0001510	Growth delay	8675	STX16	ORPHA:94089
HP:0001510	Growth delay	6548	SLC9A1	OMIM:616291
HP:0001510	Growth delay	29998	BICRA	OMIM:619325
HP:0001510	Growth delay	23586	RIGI	OMIM:616298
HP:0001510	Growth delay	55503	TRPV6	ORPHA:417
HP:0001510	Growth delay	846	CASR	ORPHA:417
HP:0001510	Growth delay	846	CASR	OMIM:601198
HP:0001510	Growth delay	1725	DHPS	OMIM:618480
HP:0001510	Growth delay	1108	CHD4	OMIM:617159
HP:0001510	Growth delay	23389	MED13L	ORPHA:369891
HP:0001510	Growth delay	1781	DYNC1I2	OMIM:618492
HP:0001510	Growth delay	9509	ADAMTS2	OMIM:225410
HP:0001510	Growth delay	54681	P4HTM	OMIM:618493
HP:0001510	Growth delay	79644	SRD5A3	OMIM:612713
HP:0001510	Growth delay	29926	GMPPA	ORPHA:869
HP:0001510	Growth delay	2077	ERF	OMIM:617180
HP:0001510	Growth delay	51715	RAB23	OMIM:201000
HP:0001510	Growth delay	627	BDNF	ORPHA:893
HP:0001510	Growth delay	1650	DDOST	ORPHA:300536
HP:0001510	Growth delay	7390	UROS	OMIM:263700
HP:0001510	Growth delay	23154	NCDN	OMIM:619373
HP:0001510	Growth delay	11011	TLK2	OMIM:618050
HP:0001510	Growth delay	161742	SPRED1	ORPHA:137605
HP:0001510	Growth delay	90952	ESAM	OMIM:620371
HP:0001510	Growth delay	9131	AIFM1	OMIM:300232
HP:0001510	Growth delay	347734	SLC35B2	OMIM:620269
HP:0001510	Growth delay	345895	RSPH4A	OMIM:612649
HP:0001510	Growth delay	8443	GNPAT	OMIM:222765
HP:0001510	Growth delay	221421	RSPH9	OMIM:612650
HP:0001510	Growth delay	2911	GRM1	OMIM:614831
HP:0001510	Growth delay	3899	AFF3	OMIM:619297
HP:0001510	Growth delay	10157	AASS	ORPHA:3124
HP:0001510	Growth delay	10157	AASS	ORPHA:2203
HP:0001510	Growth delay	5095	PCCA	OMIM:606054
HP:0001510	Growth delay	5096	PCCB	OMIM:606054
HP:0001510	Growth delay	29128	UHRF1	ORPHA:2268
HP:0001510	Growth delay	3070	HELLS	ORPHA:2268
HP:0001510	Growth delay	649	BMP1	OMIM:614856
HP:0001510	Growth delay	2535	FZD2	ORPHA:3107
HP:0001510	Growth delay	6804	STX1A	ORPHA:904
HP:0001510	Growth delay	7461	CLIP2	ORPHA:904
HP:0001510	Growth delay	84277	DNAJC30	ORPHA:904
HP:0001510	Growth delay	8468	FKBP6	ORPHA:904
HP:0001510	Growth delay	5982	RFC2	ORPHA:904
HP:0001510	Growth delay	2969	GTF2I	ORPHA:904
HP:0001510	Growth delay	3984	LIMK1	ORPHA:904
HP:0001510	Growth delay	9569	GTF2IRD1	ORPHA:904
HP:0001510	Growth delay	155382	VPS37D	ORPHA:904
HP:0001510	Growth delay	155368	METTL27	ORPHA:904
HP:0001510	Growth delay	114049	BUD23	ORPHA:904
HP:0001510	Growth delay	7458	EIF4H	ORPHA:904
HP:0001510	Growth delay	84163	GTF2IRD2	ORPHA:904
HP:0001510	Growth delay	26608	TBL2	ORPHA:904
HP:0001510	Growth delay	653361	NCF1	ORPHA:904
HP:0001510	Growth delay	135886	TMEM270	ORPHA:904
HP:0001510	Growth delay	9031	BAZ1B	ORPHA:904
HP:0001510	Growth delay	6329	SCN4A	ORPHA:99735
HP:0001510	Growth delay	9493	KIF23	ORPHA:98870
HP:0001510	Growth delay	29127	RACGAP1	ORPHA:98870
HP:0001510	Growth delay	4313	MMP2	OMIM:259600
HP:0001510	Growth delay	55081	IFT57	OMIM:617927
HP:0001510	Growth delay	27152	INTU	OMIM:617926
HP:0001510	Growth delay	7507	XPA	ORPHA:910
HP:0001510	Growth delay	7508	XPC	ORPHA:910
HP:0001510	Growth delay	1643	DDB2	ORPHA:910
HP:0001510	Growth delay	54808	DYM	OMIM:607326
HP:0001510	Growth delay	54974	THG1L	OMIM:618800
HP:0001510	Growth delay	1292	COL6A2	OMIM:255600
HP:0001510	Growth delay	175	AGA	OMIM:208400
HP:0001510	Growth delay	2239	GPC4	ORPHA:2662
HP:0001510	Growth delay	116442	RAB39B	OMIM:300271
HP:0001510	Growth delay	7874	USP7	ORPHA:500055
HP:0001510	Growth delay	55325	UFSP2	OMIM:617974
HP:0001510	Growth delay	8087	FXR1	OMIM:618822
HP:0001510	Growth delay	5205	ATP8B1	OMIM:211600
HP:0001510	Growth delay	9918	NCAPD2	OMIM:617983
HP:0001510	Growth delay	3295	HSD17B4	OMIM:233400
HP:0001510	Growth delay	2819	GPD1	OMIM:614480
HP:0001510	Growth delay	51780	KDM3B	OMIM:618846
HP:0001510	Growth delay	9203	ZMYM3	OMIM:301111
HP:0001510	Growth delay	9130	FAM50A	OMIM:300261
HP:0001510	Growth delay	5307	PITX1	OMIM:119800
HP:0001510	Growth delay	126792	B3GALT6	OMIM:615349
HP:0001510	Growth delay	256297	PTF1A	OMIM:609069
HP:0001510	Growth delay	85465	SELENOI	ORPHA:506353
HP:0001510	Growth delay	2625	GATA3	ORPHA:2237
HP:0001510	Growth delay	6524	SLC5A2	ORPHA:69076
HP:0001510	Growth delay	9653	HS2ST1	OMIM:619194
HP:0001510	Growth delay	4921	DDR2	OMIM:271665
HP:0001510	Growth delay	3636	INPPL1	ORPHA:3144
HP:0001510	Growth delay	3636	INPPL1	OMIM:258480
HP:0001510	Growth delay	23169	SLC35D1	ORPHA:3144
HP:0001510	Growth delay	23169	SLC35D1	OMIM:269250
HP:0001510	Growth delay	8540	AGPS	OMIM:600121
HP:0001510	Growth delay	64175	P3H1	OMIM:610915
HP:0001510	Growth delay	3930	LBR	OMIM:215140
HP:0001510	Growth delay	3930	LBR	OMIM:618019
HP:0001510	Growth delay	11014	KDELR2	OMIM:619131
HP:0001510	Growth delay	5479	PPIB	OMIM:259440
HP:0001510	Growth delay	406932	MIR140	OMIM:618618
HP:0001510	Growth delay	3763	KCNJ6	ORPHA:435628
HP:0001510	Growth delay	340533	NEXMIF	OMIM:300912
HP:0001510	Growth delay	5994	RFXAP	OMIM:620817
HP:0001510	Growth delay	3145	HMBS	OMIM:620704
HP:0001510	Growth delay	775	CACNA1C	OMIM:620029
HP:0001510	Growth delay	6718	AKR1D1	ORPHA:79303
HP:0001510	Growth delay	6573	SLC19A1	OMIM:620603
HP:0001510	Growth delay	10381	TUBB3	ORPHA:300570
HP:0001510	Growth delay	2035	EPB41	ORPHA:288
HP:0001510	Growth delay	2995	GYPC	ORPHA:288
HP:0001510	Growth delay	1105	CHD1	OMIM:617682
HP:0001510	Growth delay	1105	CHD1	ORPHA:529965
HP:0001510	Growth delay	790955	UQCC3	OMIM:616111
HP:0001510	Growth delay	6399	TRAPPC2	OMIM:313400
HP:0001510	Growth delay	57167	SALL4	ORPHA:959
HP:0001510	Growth delay	26040	SETBP1	OMIM:269150
HP:0001510	Growth delay	2706	GJB2	ORPHA:477
HP:0001510	Growth delay	23345	SYNE1	ORPHA:319332
HP:0001510	Growth delay	78989	COLEC11	OMIM:265050
HP:0001510	Growth delay	78989	COLEC11	ORPHA:293843
HP:0001510	Growth delay	55072	RNF31	OMIM:620632
HP:0001510	Growth delay	9338	TCEAL1	OMIM:301094
HP:0001510	Growth delay	51574	LARP7	ORPHA:319671
HP:0001510	Growth delay	6550	SLC9A3	OMIM:616868
HP:0001510	Growth delay	1641	DCX	OMIM:300067
HP:0001510	Growth delay	5332	PLCB4	OMIM:620458
HP:0001510	Growth delay	998	CDC42	ORPHA:487796
HP:0001510	Growth delay	54796	BNC2	ORPHA:93110
HP:0001510	Growth delay	84665	MYPN	ORPHA:75249
HP:0001510	Growth delay	2318	FLNC	ORPHA:75249
HP:0001510	Growth delay	7139	TNNT2	ORPHA:75249
HP:0001510	Growth delay	7137	TNNI3	ORPHA:75249
HP:0001510	Growth delay	10112	KIF20A	ORPHA:75249
HP:0001510	Growth delay	139818	DOCK11	OMIM:301109
HP:0001510	Growth delay	6137	RPL13	OMIM:618728
HP:0001510	Growth delay	383	ARG1	OMIM:207800
HP:0001510	Growth delay	6522	SLC4A2	OMIM:620366
HP:0001510	Growth delay	10079	ATP9A	OMIM:620242
HP:0001510	Growth delay	10586	MAB21L2	OMIM:615877
HP:0001510	Growth delay	55764	IFT122	ORPHA:1515
HP:0001510	Growth delay	55764	IFT122	OMIM:218330
HP:0001510	Growth delay	2475	MTOR	OMIM:616638
HP:0001510	Growth delay	91461	PKDCC	OMIM:618821
HP:0001510	Growth delay	79796	ALG9	ORPHA:79328
HP:0001510	Growth delay	23387	SIK3	OMIM:618162
HP:0001510	Growth delay	10273	STUB1	ORPHA:412057
HP:0001510	Growth delay	10059	DNM1L	ORPHA:330050
HP:0008848	Moderately short stature	1836	SLC26A2	ORPHA:93307
HP:0008848	Moderately short stature	85465	SELENOI	ORPHA:506353
HP:0008848	Moderately short stature	91252	SLC39A13	ORPHA:157965
HP:0008848	Moderately short stature	91252	SLC39A13	OMIM:612350
HP:0008848	Moderately short stature	860	RUNX2	OMIM:119600
HP:0008848	Moderately short stature	3239	HOXD13	OMIM:113300
HP:0001518	Small for gestational age	10128	LRPPRC	OMIM:220111
HP:0001518	Small for gestational age	7528	YY1	ORPHA:506358
HP:0001518	Small for gestational age	3376	IARS1	OMIM:617093
HP:0001518	Small for gestational age	81555	YIPF5	OMIM:619278
HP:0001518	Small for gestational age	10617	STAMBP	OMIM:614261
HP:0001518	Small for gestational age	26235	FBXL4	OMIM:615471
HP:0001518	Small for gestational age	23019	CNOT1	OMIM:618500
HP:0001518	Small for gestational age	23019	CNOT1	ORPHA:556955
HP:0001518	Small for gestational age	1763	DNA2	OMIM:620819
HP:0001518	Small for gestational age	25821	MTO1	OMIM:614702
HP:0001518	Small for gestational age	7068	THRB	OMIM:274300
HP:0001518	Small for gestational age	84942	WDR73	OMIM:251300
HP:0001518	Small for gestational age	3291	HSD11B2	OMIM:218030
HP:0001518	Small for gestational age	8496	PPFIBP1	OMIM:620024
HP:0001518	Small for gestational age	57176	VARS2	OMIM:615917
HP:0001518	Small for gestational age	10084	PQBP1	ORPHA:93950
HP:0001518	Small for gestational age	9401	RECQL4	OMIM:268400
HP:0001518	Small for gestational age	9401	RECQL4	ORPHA:221016
HP:0001518	Small for gestational age	4487	MSX1	ORPHA:199302
HP:0001518	Small for gestational age	5818	NECTIN1	ORPHA:199302
HP:0001518	Small for gestational age	8626	TP63	ORPHA:199302
HP:0001518	Small for gestational age	3664	IRF6	ORPHA:199302
HP:0001518	Small for gestational age	3481	IGF2	ORPHA:231140
HP:0001518	Small for gestational age	3481	IGF2	ORPHA:231144
HP:0001518	Small for gestational age	3481	IGF2	OMIM:616489
HP:0001518	Small for gestational age	3481	IGF2	ORPHA:397590
HP:0001518	Small for gestational age	3481	IGF2	OMIM:180860
HP:0001518	Small for gestational age	283120	H19	ORPHA:231140
HP:0001518	Small for gestational age	283120	H19	ORPHA:231144
HP:0001518	Small for gestational age	197131	UBR1	OMIM:243800
HP:0001518	Small for gestational age	5932	RBBP8	OMIM:606744
HP:0001518	Small for gestational age	2175	FANCA	OMIM:227650
HP:0001518	Small for gestational age	1785	DNM2	OMIM:615368
HP:0001518	Small for gestational age	1841	DTYMK	OMIM:619847
HP:0001518	Small for gestational age	55788	LMBRD1	OMIM:277380
HP:0001518	Small for gestational age	318	NUDT2	OMIM:619844
HP:0001518	Small for gestational age	10847	SRCAP	ORPHA:2044
HP:0001518	Small for gestational age	10908	PNPLA6	OMIM:275400
HP:0001518	Small for gestational age	10908	PNPLA6	ORPHA:3363
HP:0001518	Small for gestational age	3508	IGHMBP2	OMIM:604320
HP:0001518	Small for gestational age	5979	RET	ORPHA:99803
HP:0001518	Small for gestational age	429	ASCL1	ORPHA:99803
HP:0001518	Small for gestational age	8929	PHOX2B	ORPHA:99803
HP:0001518	Small for gestational age	55768	NGLY1	ORPHA:404454
HP:0001518	Small for gestational age	4868	NPHS1	OMIM:256300
HP:0001518	Small for gestational age	284058	KANSL1	ORPHA:363958
HP:0001518	Small for gestational age	284058	KANSL1	ORPHA:363965
HP:0001518	Small for gestational age	284058	KANSL1	OMIM:610443
HP:0001518	Small for gestational age	55870	ASH1L	OMIM:617796
HP:0001518	Small for gestational age	116228	COX20	OMIM:619054
HP:0001518	Small for gestational age	100131801	PET100	OMIM:619055
HP:0001518	Small for gestational age	6884	TAF13	OMIM:617432
HP:0001518	Small for gestational age	55037	PTCD3	OMIM:619057
HP:0001518	Small for gestational age	1272	CNTN1	OMIM:612540
HP:0001518	Small for gestational age	816	CAMK2B	OMIM:617799
HP:0001518	Small for gestational age	6499	SKIC2	OMIM:614602
HP:0001518	Small for gestational age	6499	SKIC2	ORPHA:84064
HP:0001518	Small for gestational age	90993	CREB3L1	OMIM:616229
HP:0001518	Small for gestational age	256297	PTF1A	OMIM:615935
HP:0001518	Small for gestational age	54675	CRLS1	OMIM:620167
HP:0001518	Small for gestational age	2645	GCK	OMIM:606176
HP:0001518	Small for gestational age	157680	VPS13B	OMIM:216550
HP:0001518	Small for gestational age	79087	ALG12	OMIM:607143
HP:0001518	Small for gestational age	857	CAV1	OMIM:606721
HP:0001518	Small for gestational age	54968	TMEM70	OMIM:614052
HP:0001518	Small for gestational age	26053	AUTS2	ORPHA:352490
HP:0001518	Small for gestational age	26053	AUTS2	OMIM:615834
HP:0001518	Small for gestational age	7386	UQCRFS1	OMIM:618775
HP:0001518	Small for gestational age	833	CARS1	OMIM:618891
HP:0001518	Small for gestational age	2903	GRIN2A	ORPHA:289266
HP:0001518	Small for gestational age	2903	GRIN2A	OMIM:245570
HP:0001518	Small for gestational age	8550	MAPKAPK5	OMIM:619869
HP:0001518	Small for gestational age	79813	EHMT1	OMIM:610253
HP:0001518	Small for gestational age	60	ACTB	OMIM:607371
HP:0001518	Small for gestational age	55012	PPP2R3C	OMIM:618419
HP:0001518	Small for gestational age	51021	MRPS16	OMIM:610498
HP:0001518	Small for gestational age	11193	WBP4	OMIM:620852
HP:0001518	Small for gestational age	25942	SIN3A	OMIM:613406
HP:0001518	Small for gestational age	25942	SIN3A	ORPHA:94065
HP:0001518	Small for gestational age	79158	GNPTAB	OMIM:252600
HP:0001518	Small for gestational age	7468	NSD2	OMIM:194190
HP:0001518	Small for gestational age	10815	CPLX1	OMIM:194190
HP:0001518	Small for gestational age	1487	CTBP1	OMIM:194190
HP:0001518	Small for gestational age	53834	FGFRL1	OMIM:194190
HP:0001518	Small for gestational age	3954	LETM1	OMIM:194190
HP:0001518	Small for gestational age	4929	NR4A2	ORPHA:1617
HP:0001518	Small for gestational age	10716	TBR1	ORPHA:1617
HP:0001518	Small for gestational age	2074	ERCC6	OMIM:214150
HP:0001518	Small for gestational age	2074	ERCC6	OMIM:133540
HP:0001518	Small for gestational age	7809	BSND	ORPHA:89938
HP:0001518	Small for gestational age	1188	CLCNKB	ORPHA:89938
HP:0001518	Small for gestational age	1187	CLCNKA	ORPHA:89938
HP:0001518	Small for gestational age	5447	POR	OMIM:201750
HP:0001518	Small for gestational age	55621	TRMT1	OMIM:618302
HP:0001518	Small for gestational age	4593	MUSK	OMIM:208150
HP:0001518	Small for gestational age	1660	DHX9	OMIM:620988
HP:0001518	Small for gestational age	57282	SLC4A10	OMIM:620746
HP:0001518	Small for gestational age	5828	PEX2	OMIM:614866
HP:0001518	Small for gestational age	2627	GATA6	ORPHA:2255
HP:0001518	Small for gestational age	2321	FLT1	ORPHA:275555
HP:0001518	Small for gestational age	219736	STOX1	ORPHA:275555
HP:0001518	Small for gestational age	10699	CORIN	ORPHA:275555
HP:0001518	Small for gestational age	79753	SNIP1	OMIM:614501
HP:0001518	Small for gestational age	2073	ERCC5	OMIM:278780
HP:0001518	Small for gestational age	10056	FARSB	OMIM:613658
HP:0001518	Small for gestational age	23345	SYNE1	ORPHA:319332
HP:0001518	Small for gestational age	23345	SYNE1	OMIM:618484
HP:0001518	Small for gestational age	11128	POLR3A	OMIM:264090
HP:0001518	Small for gestational age	1859	DYRK1A	ORPHA:464311
HP:0001518	Small for gestational age	1859	DYRK1A	ORPHA:268261
HP:0001518	Small for gestational age	1859	DYRK1A	OMIM:614104
HP:0001518	Small for gestational age	79759	ZNF668	OMIM:620194
HP:0001518	Small for gestational age	4089	SMAD4	OMIM:139210
HP:0001518	Small for gestational age	7385	UQCRC2	OMIM:615160
HP:0001518	Small for gestational age	5205	ATP8B1	ORPHA:69665
HP:0001518	Small for gestational age	8647	ABCB11	ORPHA:69665
HP:0001518	Small for gestational age	5244	ABCB4	ORPHA:69665
HP:0001518	Small for gestational age	9971	NR1H4	ORPHA:69665
HP:0001518	Small for gestational age	50485	SMARCAL1	ORPHA:1830
HP:0001518	Small for gestational age	50485	SMARCAL1	OMIM:242900
HP:0001518	Small for gestational age	1028	CDKN1C	ORPHA:397590
HP:0001518	Small for gestational age	5324	PLAG1	ORPHA:397590
HP:0001518	Small for gestational age	5324	PLAG1	OMIM:618907
HP:0001518	Small for gestational age	8091	HMGA2	ORPHA:397590
HP:0001518	Small for gestational age	8091	HMGA2	OMIM:618908
HP:0001518	Small for gestational age	641	BLM	OMIM:210900
HP:0001518	Small for gestational age	641	BLM	ORPHA:125
HP:0001518	Small for gestational age	3708	ITPR1	OMIM:117360
HP:0001518	Small for gestational age	84919	PPP1R15B	OMIM:616817
HP:0001518	Small for gestational age	84919	PPP1R15B	ORPHA:391408
HP:0001518	Small for gestational age	79728	PALB2	OMIM:610832
HP:0001518	Small for gestational age	2683	B4GALT1	ORPHA:79332
HP:0001518	Small for gestational age	91949	COG7	ORPHA:79333
HP:0001518	Small for gestational age	55343	SLC35C1	ORPHA:99843
HP:0001518	Small for gestational age	6638	SNRPN	ORPHA:98754
HP:0001518	Small for gestational age	6638	SNRPN	ORPHA:177904
HP:0001518	Small for gestational age	6638	SNRPN	ORPHA:177901
HP:0001518	Small for gestational age	4692	NDN	ORPHA:98754
HP:0001518	Small for gestational age	4692	NDN	ORPHA:177904
HP:0001518	Small for gestational age	4692	NDN	ORPHA:177901
HP:0001518	Small for gestational age	54551	MAGEL2	ORPHA:98754
HP:0001518	Small for gestational age	54551	MAGEL2	ORPHA:177904
HP:0001518	Small for gestational age	54551	MAGEL2	ORPHA:177901
HP:0001518	Small for gestational age	4948	OCA2	ORPHA:98754
HP:0001518	Small for gestational age	4948	OCA2	ORPHA:177904
HP:0001518	Small for gestational age	4948	OCA2	ORPHA:177901
HP:0001518	Small for gestational age	5295	PIK3R1	OMIM:269880
HP:0001518	Small for gestational age	9652	SKIC3	OMIM:222470
HP:0001518	Small for gestational age	9652	SKIC3	ORPHA:84064
HP:0001518	Small for gestational age	5286	PIK3C2A	OMIM:618440
HP:0001518	Small for gestational age	8218	CLTCL1	ORPHA:453510
HP:0001518	Small for gestational age	2961	GTF2E2	OMIM:616943
HP:0001518	Small for gestational age	63901	FAM111A	OMIM:127000
HP:0001518	Small for gestational age	701	BUB1B	OMIM:257300
HP:0001518	Small for gestational age	79053	ALG8	ORPHA:79325
HP:0001518	Small for gestational age	9896	FIG4	OMIM:216340
HP:0001518	Small for gestational age	6567	SLC16A2	ORPHA:59
HP:0001518	Small for gestational age	6138	RPL15	ORPHA:124
HP:0001518	Small for gestational age	6224	RPS20	ORPHA:124
HP:0001518	Small for gestational age	6165	RPL35A	ORPHA:124
HP:0001518	Small for gestational age	6132	RPL8	ORPHA:124
HP:0001518	Small for gestational age	6223	RPS19	ORPHA:124
HP:0001518	Small for gestational age	6232	RPS27	ORPHA:124
HP:0001518	Small for gestational age	55027	HEATR3	ORPHA:124
HP:0001518	Small for gestational age	6160	RPL31	ORPHA:124
HP:0001518	Small for gestational age	6201	RPS7	ORPHA:124
HP:0001518	Small for gestational age	6155	RPL27	ORPHA:124
HP:0001518	Small for gestational age	6234	RPS28	ORPHA:124
HP:0001518	Small for gestational age	6135	RPL11	ORPHA:124
HP:0001518	Small for gestational age	6229	RPS24	ORPHA:124
HP:0001518	Small for gestational age	6125	RPL5	ORPHA:124
HP:0001518	Small for gestational age	6204	RPS10	ORPHA:124
HP:0001518	Small for gestational age	2623	GATA1	ORPHA:124
HP:0001518	Small for gestational age	6133	RPL9	ORPHA:124
HP:0001518	Small for gestational age	6231	RPS26	ORPHA:124
HP:0001518	Small for gestational age	11224	RPL35	ORPHA:124
HP:0001518	Small for gestational age	6218	RPS17	ORPHA:124
HP:0001518	Small for gestational age	6154	RPL26	ORPHA:124
HP:0001518	Small for gestational age	6210	RPS15A	ORPHA:124
HP:0001518	Small for gestational age	90121	TSR2	ORPHA:124
HP:0001518	Small for gestational age	6141	RPL18	ORPHA:124
HP:0001518	Small for gestational age	6235	RPS29	ORPHA:124
HP:0001518	Small for gestational age	51816	ADA2	ORPHA:124
HP:0001518	Small for gestational age	5631	PRPS1	OMIM:300661
HP:0001518	Small for gestational age	56160	NSMCE3	OMIM:617241
HP:0001518	Small for gestational age	6927	HNF1A	ORPHA:324575
HP:0001518	Small for gestational age	51025	PAM16	OMIM:613320
HP:0001518	Small for gestational age	51053	GMNN	OMIM:616835
HP:0001518	Small for gestational age	6888	TALDO1	OMIM:606003
HP:0001518	Small for gestational age	10075	HUWE1	OMIM:309590
HP:0001518	Small for gestational age	3479	IGF1	ORPHA:73272
HP:0001518	Small for gestational age	4693	NDP	ORPHA:90050
HP:0001518	Small for gestational age	4041	LRP5	ORPHA:90050
HP:0001518	Small for gestational age	8322	FZD4	ORPHA:90050
HP:0001518	Small for gestational age	5076	PAX2	ORPHA:97362
HP:0001518	Small for gestational age	5087	PBX1	ORPHA:97362
HP:0001518	Small for gestational age	388015	RTL1	ORPHA:254534
HP:0001518	Small for gestational age	388015	RTL1	ORPHA:96184
HP:0001518	Small for gestational age	8788	DLK1	ORPHA:254534
HP:0001518	Small for gestational age	8788	DLK1	ORPHA:96184
HP:0001518	Small for gestational age	55384	MEG3	ORPHA:254534
HP:0001518	Small for gestational age	55384	MEG3	ORPHA:96184
HP:0001518	Small for gestational age	1499	CTNNB1	OMIM:615075
HP:0001518	Small for gestational age	10785	WDR4	OMIM:618346
HP:0001518	Small for gestational age	579	NKX3-2	OMIM:613330
HP:0001518	Small for gestational age	4072	EPCAM	OMIM:613217
HP:0001518	Small for gestational age	23363	OBSL1	OMIM:612921
HP:0001518	Small for gestational age	2200	FBN1	ORPHA:284979
HP:0001518	Small for gestational age	7253	TSHR	ORPHA:424
HP:0001518	Small for gestational age	7253	TSHR	OMIM:609152
HP:0001518	Small for gestational age	3981	LIG4	OMIM:606593
HP:0001518	Small for gestational age	55593	OTUD5	OMIM:301056
HP:0001518	Small for gestational age	6299	SALL1	OMIM:107480
HP:0001518	Small for gestational age	23395	LARS2	OMIM:617021
HP:0001518	Small for gestational age	100151683	RNU4ATAC	OMIM:226960
HP:0001518	Small for gestational age	1062	CENPE	OMIM:616051
HP:0001518	Small for gestational age	6729	SRP54	OMIM:260400
HP:0001518	Small for gestational age	51119	SBDS	OMIM:260400
HP:0001518	Small for gestational age	134218	DNAJC21	OMIM:260400
HP:0001518	Small for gestational age	5160	PDHA1	OMIM:312170
HP:0001518	Small for gestational age	5160	PDHA1	ORPHA:79243
HP:0001518	Small for gestational age	10229	COQ7	OMIM:616733
HP:0001518	Small for gestational age	55784	MCTP2	ORPHA:1596
HP:0001518	Small for gestational age	55152	DALRD3	OMIM:618910
HP:0001518	Small for gestational age	25885	POLR1A	OMIM:620675
HP:0001518	Small for gestational age	2068	ERCC2	OMIM:610756
HP:0001518	Small for gestational age	2068	ERCC2	OMIM:601675
HP:0001518	Small for gestational age	3767	KCNJ11	ORPHA:99886
HP:0001518	Small for gestational age	346171	ZFP57	ORPHA:99886
HP:0001518	Small for gestational age	57061	HYMAI	ORPHA:99886
HP:0001518	Small for gestational age	6833	ABCC8	ORPHA:99886
HP:0001518	Small for gestational age	6833	ABCC8	OMIM:618857
HP:0001518	Small for gestational age	5325	PLAGL1	ORPHA:99886
HP:0001518	Small for gestational age	2710	GK	OMIM:307030
HP:0001518	Small for gestational age	4621	MYH3	OMIM:193700
HP:0001518	Small for gestational age	63925	ZNF335	OMIM:615095
HP:0001518	Small for gestational age	4998	ORC1	OMIM:224690
HP:0001518	Small for gestational age	50619	DEF6	OMIM:619573
HP:0001518	Small for gestational age	23511	NUP188	OMIM:618804
HP:0001518	Small for gestational age	4358	MPV17	OMIM:256810
HP:0001518	Small for gestational age	201163	FLCN	OMIM:610883
HP:0001518	Small for gestational age	1277	COL1A1	OMIM:166210
HP:0001518	Small for gestational age	1278	COL1A2	OMIM:166210
HP:0001518	Small for gestational age	83987	CCDC8	OMIM:614205
HP:0001518	Small for gestational age	9820	CUL7	OMIM:273750
HP:0001518	Small for gestational age	9361	LONP1	ORPHA:79243
HP:0001518	Small for gestational age	22827	PUF60	ORPHA:508488
HP:0001518	Small for gestational age	22827	PUF60	OMIM:615583
HP:0001518	Small for gestational age	6557	SLC12A1	OMIM:601678
HP:0001518	Small for gestational age	26276	VPS33B	OMIM:208085
HP:0001518	Small for gestational age	2178	FANCE	OMIM:600901
HP:0001518	Small for gestational age	4905	NSF	OMIM:619340
HP:0001518	Small for gestational age	3758	KCNJ1	OMIM:241200
HP:0001518	Small for gestational age	4714	NDUFB8	OMIM:618252
HP:0001518	Small for gestational age	4700	NDUFA6	OMIM:618253
HP:0001518	Small for gestational age	10046	MAMLD1	ORPHA:95706
HP:0001518	Small for gestational age	367	AR	ORPHA:95706
HP:0001518	Small for gestational age	5573	PRKAR1A	OMIM:101800
HP:0001518	Small for gestational age	9419	CRIPT	OMIM:615789
HP:0001518	Small for gestational age	79718	TBL1XR1	ORPHA:487825
HP:0001518	Small for gestational age	2584	GALK1	ORPHA:79237
HP:0001518	Small for gestational age	3835	KIF22	ORPHA:93360
HP:0001518	Small for gestational age	3643	INSR	OMIM:262190
HP:0001518	Small for gestational age	10664	CTCF	ORPHA:363611
HP:0001518	Small for gestational age	57187	THOC2	OMIM:300957
HP:0001518	Small for gestational age	29927	SEC61A1	OMIM:617056
HP:0001518	Small for gestational age	2033	EP300	OMIM:180849
HP:0001518	Small for gestational age	1387	CREBBP	OMIM:180849
HP:0001518	Small for gestational age	1387	CREBBP	ORPHA:592574
HP:0001518	Small for gestational age	92002	CCNQ	OMIM:300707
HP:0001518	Small for gestational age	29957	SLC25A24	OMIM:612289
HP:0001518	Small for gestational age	4796	TONSL	ORPHA:93357
HP:0001518	Small for gestational age	1528	CYB5A	ORPHA:621
HP:0001518	Small for gestational age	1727	CYB5R3	ORPHA:621
HP:0001518	Small for gestational age	6697	SPR	ORPHA:70594
HP:0001518	Small for gestational age	2887	GRB10	ORPHA:96182
HP:0001518	Small for gestational age	8720	MBTPS1	OMIM:618392
HP:0001518	Small for gestational age	213	ALB	ORPHA:86816
HP:0001518	Small for gestational age	1836	SLC26A2	OMIM:222600
HP:0001518	Small for gestational age	60558	GUF1	OMIM:617065
HP:0001518	Small for gestational age	374879	ZNF699	OMIM:619488
HP:0001518	Small for gestational age	9918	NCAPD2	OMIM:617983
HP:0001518	Small for gestational age	57477	SHROOM4	ORPHA:85288
HP:0001518	Small for gestational age	6197	RPS6KA3	OMIM:300844
HP:0001518	Small for gestational age	10293	TRAIP	OMIM:616777
HP:0001518	Small for gestational age	9702	CEP57	OMIM:614114
HP:0001518	Small for gestational age	202018	TAPT1	OMIM:616897
HP:0001518	Small for gestational age	23397	NCAPH	OMIM:617985
HP:0001518	Small for gestational age	23310	NCAPD3	OMIM:617984
HP:0001518	Small for gestational age	93587	TRMT10A	ORPHA:391408
HP:0001518	Small for gestational age	3030	HADHA	OMIM:609015
HP:0001518	Small for gestational age	10436	EMG1	OMIM:211180
HP:0001518	Small for gestational age	2177	FANCD2	OMIM:227646
HP:0001518	Small for gestational age	5805	PTS	OMIM:261640
HP:0001518	Small for gestational age	54888	NSUN2	OMIM:611091
HP:0001518	Small for gestational age	2176	FANCC	OMIM:227645
HP:0001518	Small for gestational age	10274	STAG1	OMIM:617635
HP:0001518	Small for gestational age	37	ACADVL	ORPHA:26793
HP:0001518	Small for gestational age	3735	KARS1	OMIM:619147
HP:0001518	Small for gestational age	29928	TIMM22	OMIM:618851
HP:0001518	Small for gestational age	1968	EIF2S3	OMIM:300148
HP:0001518	Small for gestational age	8803	SUCLA2	OMIM:612073
HP:0001518	Small for gestational age	146059	CDAN1	OMIM:224120
HP:0001518	Small for gestational age	10736	SIX2	ORPHA:488437
HP:0001518	Small for gestational age	3630	INS	OMIM:618858
HP:0001518	Small for gestational age	4713	NDUFB7	OMIM:620135
HP:0001518	Small for gestational age	25886	POC1A	OMIM:614813
HP:0001518	Small for gestational age	5052	PRDX1	OMIM:277400
HP:0001518	Small for gestational age	25974	MMACHC	OMIM:277400
HP:0001518	Small for gestational age	90952	ESAM	OMIM:620371
HP:0001518	Small for gestational age	64682	ANAPC1	ORPHA:221008
HP:0009104	Aplasia/Hypoplasia of the pubic bone	4148	MATN3	OMIM:608728
HP:0009104	Aplasia/Hypoplasia of the pubic bone	3636	INPPL1	OMIM:258480
HP:0009104	Aplasia/Hypoplasia of the pubic bone	3636	INPPL1	ORPHA:2746
HP:0009104	Aplasia/Hypoplasia of the pubic bone	6913	TBX15	OMIM:260660
HP:0009104	Aplasia/Hypoplasia of the pubic bone	1280	COL2A1	OMIM:151210
HP:0009104	Aplasia/Hypoplasia of the pubic bone	1280	COL2A1	OMIM:184250
HP:0009104	Aplasia/Hypoplasia of the pubic bone	1280	COL2A1	ORPHA:93346
HP:0009104	Aplasia/Hypoplasia of the pubic bone	2263	FGFR2	OMIM:614592
HP:0009104	Aplasia/Hypoplasia of the pubic bone	27152	INTU	OMIM:617925
HP:0009104	Aplasia/Hypoplasia of the pubic bone	9820	CUL7	ORPHA:2616
HP:0009104	Aplasia/Hypoplasia of the pubic bone	23363	OBSL1	ORPHA:2616
HP:0009104	Aplasia/Hypoplasia of the pubic bone	83987	CCDC8	ORPHA:2616
HP:0009104	Aplasia/Hypoplasia of the pubic bone	1302	COL11A2	OMIM:614524
HP:0009104	Aplasia/Hypoplasia of the pubic bone	3339	HSPG2	ORPHA:1865
HP:0009104	Aplasia/Hypoplasia of the pubic bone	10060	ABCC9	OMIM:239850
HP:0009104	Aplasia/Hypoplasia of the pubic bone	23522	KAT6B	OMIM:606170
HP:0009104	Aplasia/Hypoplasia of the pubic bone	10815	CPLX1	ORPHA:280
HP:0009104	Aplasia/Hypoplasia of the pubic bone	54872	PIGG	ORPHA:280
HP:0009104	Aplasia/Hypoplasia of the pubic bone	7469	NELFA	ORPHA:280
HP:0009104	Aplasia/Hypoplasia of the pubic bone	1487	CTBP1	ORPHA:280
HP:0009104	Aplasia/Hypoplasia of the pubic bone	3954	LETM1	ORPHA:280
HP:0009104	Aplasia/Hypoplasia of the pubic bone	7468	NSD2	ORPHA:280
HP:0009104	Aplasia/Hypoplasia of the pubic bone	7476	WNT7A	OMIM:276820
HP:0009104	Aplasia/Hypoplasia of the pubic bone	26040	SETBP1	OMIM:269150
HP:0008897	Postnatal growth retardation	6775	STAT4	ORPHA:85408
HP:0008897	Postnatal growth retardation	3560	IL2RB	ORPHA:85408
HP:0008897	Postnatal growth retardation	79722	ANKRD55	ORPHA:85408
HP:0008897	Postnatal growth retardation	26191	PTPN22	ORPHA:85408
HP:0008897	Postnatal growth retardation	919	CD247	ORPHA:85408
HP:0008897	Postnatal growth retardation	3559	IL2RA	ORPHA:85408
HP:0008897	Postnatal growth retardation	5771	PTPN2	ORPHA:85408
HP:0008897	Postnatal growth retardation	146059	CDAN1	OMIM:224120
HP:0008897	Postnatal growth retardation	7068	THRB	ORPHA:566243
HP:0008897	Postnatal growth retardation	9508	ADAMTS3	ORPHA:2136
HP:0008897	Postnatal growth retardation	147372	CCBE1	ORPHA:2136
HP:0008897	Postnatal growth retardation	147372	CCBE1	OMIM:235510
HP:0008897	Postnatal growth retardation	79633	FAT4	ORPHA:2136
HP:0008897	Postnatal growth retardation	3483	IGFALS	OMIM:615961
HP:0008897	Postnatal growth retardation	5573	PRKAR1A	OMIM:101800
HP:0008897	Postnatal growth retardation	23476	BRD4	ORPHA:199
HP:0008897	Postnatal growth retardation	9126	SMC3	ORPHA:199
HP:0008897	Postnatal growth retardation	6878	TAF6	ORPHA:199
HP:0008897	Postnatal growth retardation	5885	RAD21	ORPHA:199
HP:0008897	Postnatal growth retardation	2625	GATA3	ORPHA:2237
HP:0008897	Postnatal growth retardation	89884	LHX4	OMIM:262700
HP:0008897	Postnatal growth retardation	5449	POU1F1	OMIM:613038
HP:0008897	Postnatal growth retardation	5557	PRIM1	OMIM:620005
HP:0008897	Postnatal growth retardation	6261	RYR1	ORPHA:98905
HP:0008897	Postnatal growth retardation	51199	NIN	ORPHA:319675
HP:0008897	Postnatal growth retardation	6134	RPL10	ORPHA:435938
HP:0008897	Postnatal growth retardation	7466	WFS1	ORPHA:411590
HP:0008897	Postnatal growth retardation	10436	EMG1	ORPHA:1270
HP:0008897	Postnatal growth retardation	128637	TBC1D20	OMIM:615663
HP:0008897	Postnatal growth retardation	23729	SHPK	ORPHA:440713
HP:0008897	Postnatal growth retardation	10815	CPLX1	OMIM:194190
HP:0008897	Postnatal growth retardation	1487	CTBP1	OMIM:194190
HP:0008897	Postnatal growth retardation	53834	FGFRL1	OMIM:194190
HP:0008897	Postnatal growth retardation	3954	LETM1	OMIM:194190
HP:0008897	Postnatal growth retardation	93587	TRMT10A	ORPHA:391408
HP:0008897	Postnatal growth retardation	84919	PPP1R15B	ORPHA:391408
HP:0008897	Postnatal growth retardation	7252	TSHB	OMIM:275100
HP:0008897	Postnatal growth retardation	6524	SLC5A2	ORPHA:69076
HP:0008897	Postnatal growth retardation	8243	SMC1A	OMIM:300590
HP:0008897	Postnatal growth retardation	3763	KCNJ6	ORPHA:435628
HP:0008897	Postnatal growth retardation	3376	IARS1	OMIM:617093
HP:0008897	Postnatal growth retardation	340533	NEXMIF	OMIM:300912
HP:0008897	Postnatal growth retardation	5723	PSPH	OMIM:614023
HP:0008897	Postnatal growth retardation	5723	PSPH	ORPHA:79350
HP:0008897	Postnatal growth retardation	5994	RFXAP	OMIM:620817
HP:0008897	Postnatal growth retardation	3145	HMBS	OMIM:620704
HP:0008897	Postnatal growth retardation	6777	STAT5B	OMIM:618985
HP:0008897	Postnatal growth retardation	775	CACNA1C	OMIM:620029
HP:0008897	Postnatal growth retardation	54820	NDE1	ORPHA:2177
HP:0008897	Postnatal growth retardation	145173	B3GLCT	ORPHA:709
HP:0008897	Postnatal growth retardation	145173	B3GLCT	OMIM:261540
HP:0008897	Postnatal growth retardation	55325	UFSP2	OMIM:620028
HP:0008897	Postnatal growth retardation	1161	ERCC8	ORPHA:90321
HP:0008897	Postnatal growth retardation	1161	ERCC8	OMIM:216400
HP:0008897	Postnatal growth retardation	2072	ERCC4	ORPHA:90321
HP:0008897	Postnatal growth retardation	2074	ERCC6	ORPHA:90321
HP:0008897	Postnatal growth retardation	2074	ERCC6	OMIM:133540
HP:0008897	Postnatal growth retardation	6718	AKR1D1	ORPHA:79303
HP:0008897	Postnatal growth retardation	3481	IGF2	ORPHA:231140
HP:0008897	Postnatal growth retardation	3481	IGF2	ORPHA:231144
HP:0008897	Postnatal growth retardation	3481	IGF2	OMIM:616489
HP:0008897	Postnatal growth retardation	3481	IGF2	ORPHA:397590
HP:0008897	Postnatal growth retardation	283120	H19	ORPHA:231140
HP:0008897	Postnatal growth retardation	283120	H19	ORPHA:231144
HP:0008897	Postnatal growth retardation	2767	GNA11	OMIM:615361
HP:0008897	Postnatal growth retardation	374654	KIF7	OMIM:200990
HP:0008897	Postnatal growth retardation	1723	DHODH	OMIM:263750
HP:0008897	Postnatal growth retardation	4552	MTRR	ORPHA:2169
HP:0008897	Postnatal growth retardation	9968	MED12	ORPHA:2728
HP:0008897	Postnatal growth retardation	4000	LMNA	OMIM:248370
HP:0008897	Postnatal growth retardation	2693	GHSR	OMIM:615925
HP:0008897	Postnatal growth retardation	55636	CHD7	ORPHA:138
HP:0008897	Postnatal growth retardation	55636	CHD7	OMIM:214800
HP:0008897	Postnatal growth retardation	9723	SEMA3E	ORPHA:138
HP:0008897	Postnatal growth retardation	9382	COG1	OMIM:611209
HP:0008897	Postnatal growth retardation	9382	COG1	ORPHA:263508
HP:0008897	Postnatal growth retardation	56992	KIF15	ORPHA:261323
HP:0008897	Postnatal growth retardation	57492	ARID1B	OMIM:135900
HP:0008897	Postnatal growth retardation	57492	ARID1B	ORPHA:1465
HP:0008897	Postnatal growth retardation	284058	KANSL1	ORPHA:363958
HP:0008897	Postnatal growth retardation	284058	KANSL1	ORPHA:363965
HP:0008897	Postnatal growth retardation	23545	ATP6V0A2	ORPHA:2834
HP:0008897	Postnatal growth retardation	23545	ATP6V0A2	ORPHA:357074
HP:0008897	Postnatal growth retardation	6573	SLC19A1	OMIM:620603
HP:0008897	Postnatal growth retardation	10381	TUBB3	ORPHA:300570
HP:0008897	Postnatal growth retardation	54543	TOMM7	OMIM:620601
HP:0008897	Postnatal growth retardation	3117	HLA-DQA1	OMIM:212750
HP:0008897	Postnatal growth retardation	3119	HLA-DQB1	OMIM:212750
HP:0008897	Postnatal growth retardation	2035	EPB41	ORPHA:288
HP:0008897	Postnatal growth retardation	2995	GYPC	ORPHA:288
HP:0008897	Postnatal growth retardation	6710	SPTB	ORPHA:288
HP:0008897	Postnatal growth retardation	6708	SPTA1	ORPHA:288
HP:0008897	Postnatal growth retardation	7020	TFAP2A	OMIM:113620
HP:0008897	Postnatal growth retardation	222663	SCUBE3	OMIM:619184
HP:0008897	Postnatal growth retardation	6872	TAF1	ORPHA:480907
HP:0008897	Postnatal growth retardation	6872	TAF1	OMIM:300966
HP:0008897	Postnatal growth retardation	9896	FIG4	ORPHA:3472
HP:0008897	Postnatal growth retardation	55697	VAC14	ORPHA:3472
HP:0008897	Postnatal growth retardation	1105	CHD1	OMIM:617682
HP:0008897	Postnatal growth retardation	1105	CHD1	ORPHA:529965
HP:0008897	Postnatal growth retardation	1594	CYP27B1	OMIM:264700
HP:0008897	Postnatal growth retardation	1594	CYP27B1	ORPHA:289157
HP:0008897	Postnatal growth retardation	4297	KMT2A	ORPHA:319182
HP:0008897	Postnatal growth retardation	4297	KMT2A	OMIM:605130
HP:0008897	Postnatal growth retardation	23312	DMXL2	OMIM:616113
HP:0008897	Postnatal growth retardation	23312	DMXL2	ORPHA:453533
HP:0008897	Postnatal growth retardation	790955	UQCC3	OMIM:616111
HP:0008897	Postnatal growth retardation	6399	TRAPPC2	OMIM:313400
HP:0008897	Postnatal growth retardation	57167	SALL4	ORPHA:959
HP:0008897	Postnatal growth retardation	1028	CDKN1C	OMIM:614732
HP:0008897	Postnatal growth retardation	1028	CDKN1C	ORPHA:397590
HP:0008897	Postnatal growth retardation	26057	ANKRD17	OMIM:619504
HP:0008897	Postnatal growth retardation	26040	SETBP1	OMIM:269150
HP:0008897	Postnatal growth retardation	4247	MGAT2	OMIM:212066
HP:0008897	Postnatal growth retardation	1499	CTNNB1	ORPHA:54595
HP:0008897	Postnatal growth retardation	673	BRAF	ORPHA:54595
HP:0008897	Postnatal growth retardation	673	BRAF	OMIM:163950
HP:0008897	Postnatal growth retardation	3981	LIG4	ORPHA:235
HP:0008897	Postnatal growth retardation	54888	NSUN2	ORPHA:235
HP:0008897	Postnatal growth retardation	54888	NSUN2	OMIM:611091
HP:0008897	Postnatal growth retardation	10804	GJB6	ORPHA:477
HP:0008897	Postnatal growth retardation	2706	GJB2	ORPHA:477
HP:0008897	Postnatal growth retardation	6905	TBCE	OMIM:241410
HP:0008897	Postnatal growth retardation	6905	TBCE	ORPHA:2323
HP:0008897	Postnatal growth retardation	6905	TBCE	ORPHA:93324
HP:0008897	Postnatal growth retardation	120227	CYP2R1	ORPHA:289157
HP:0008897	Postnatal growth retardation	8558	CDK10	OMIM:617694
HP:0008897	Postnatal growth retardation	4613	MYCN	OMIM:620748
HP:0008897	Postnatal growth retardation	5836	PYGL	OMIM:232700
HP:0008897	Postnatal growth retardation	150468	CKAP2L	OMIM:272440
HP:0008897	Postnatal growth retardation	23345	SYNE1	ORPHA:319332
HP:0008897	Postnatal growth retardation	54499	TMCO1	OMIM:213980
HP:0008897	Postnatal growth retardation	4952	OCRL	OMIM:309000
HP:0008897	Postnatal growth retardation	157570	ESCO2	ORPHA:3103
HP:0008897	Postnatal growth retardation	157570	ESCO2	OMIM:268300
HP:0008897	Postnatal growth retardation	415	ARSL	ORPHA:79345
HP:0008897	Postnatal growth retardation	93986	FOXP2	ORPHA:251061
HP:0008897	Postnatal growth retardation	78989	COLEC11	OMIM:265050
HP:0008897	Postnatal growth retardation	78989	COLEC11	ORPHA:293843
HP:0008897	Postnatal growth retardation	4094	MAF	ORPHA:1272
HP:0008897	Postnatal growth retardation	1654	DDX3X	ORPHA:3338
HP:0008897	Postnatal growth retardation	5324	PLAG1	ORPHA:397590
HP:0008897	Postnatal growth retardation	8091	HMGA2	ORPHA:397590
HP:0008897	Postnatal growth retardation	641	BLM	OMIM:210900
HP:0008897	Postnatal growth retardation	55072	RNF31	OMIM:620632
HP:0008897	Postnatal growth retardation	79728	PALB2	OMIM:610832
HP:0008897	Postnatal growth retardation	51163	DBR1	OMIM:620510
HP:0008897	Postnatal growth retardation	388015	RTL1	ORPHA:96334
HP:0008897	Postnatal growth retardation	388015	RTL1	ORPHA:254531
HP:0008897	Postnatal growth retardation	388015	RTL1	ORPHA:254534
HP:0008897	Postnatal growth retardation	388015	RTL1	ORPHA:254525
HP:0008897	Postnatal growth retardation	388015	RTL1	ORPHA:254528
HP:0008897	Postnatal growth retardation	388015	RTL1	ORPHA:96184
HP:0008897	Postnatal growth retardation	8788	DLK1	ORPHA:96334
HP:0008897	Postnatal growth retardation	8788	DLK1	ORPHA:254531
HP:0008897	Postnatal growth retardation	8788	DLK1	ORPHA:254534
HP:0008897	Postnatal growth retardation	8788	DLK1	ORPHA:254525
HP:0008897	Postnatal growth retardation	8788	DLK1	ORPHA:254528
HP:0008897	Postnatal growth retardation	8788	DLK1	ORPHA:96184
HP:0008897	Postnatal growth retardation	55384	MEG3	ORPHA:96334
HP:0008897	Postnatal growth retardation	55384	MEG3	ORPHA:254531
HP:0008897	Postnatal growth retardation	55384	MEG3	ORPHA:254534
HP:0008897	Postnatal growth retardation	55384	MEG3	ORPHA:254525
HP:0008897	Postnatal growth retardation	55384	MEG3	ORPHA:254528
HP:0008897	Postnatal growth retardation	55384	MEG3	ORPHA:96184
HP:0008897	Postnatal growth retardation	9338	TCEAL1	OMIM:301094
HP:0008897	Postnatal growth retardation	2316	FLNA	OMIM:304120
HP:0008897	Postnatal growth retardation	91949	COG7	ORPHA:79333
HP:0008897	Postnatal growth retardation	23314	SATB2	ORPHA:576283
HP:0008897	Postnatal growth retardation	23314	SATB2	ORPHA:251028
HP:0008897	Postnatal growth retardation	57724	EPG5	OMIM:242840
HP:0008897	Postnatal growth retardation	63895	PIEZO2	OMIM:248700
HP:0008897	Postnatal growth retardation	51651	PTRH2	OMIM:616263
HP:0008897	Postnatal growth retardation	23483	TGDS	OMIM:616145
HP:0008897	Postnatal growth retardation	2006	ELN	ORPHA:90348
HP:0008897	Postnatal growth retardation	10516	FBLN5	ORPHA:90348
HP:0008897	Postnatal growth retardation	5832	ALDH18A1	ORPHA:90348
HP:0008897	Postnatal growth retardation	5832	ALDH18A1	OMIM:616603
HP:0008897	Postnatal growth retardation	25836	NIPBL	OMIM:122470
HP:0008897	Postnatal growth retardation	85459	CEP295	OMIM:620767
HP:0008897	Postnatal growth retardation	51574	LARP7	ORPHA:319671
HP:0008897	Postnatal growth retardation	79158	GNPTAB	ORPHA:423461
HP:0008897	Postnatal growth retardation	79158	GNPTAB	ORPHA:576
HP:0008897	Postnatal growth retardation	701	BUB1B	OMIM:257300
HP:0008897	Postnatal growth retardation	10682	EBP	OMIM:302960
HP:0008897	Postnatal growth retardation	867	CBL	OMIM:613563
HP:0008897	Postnatal growth retardation	867	CBL	ORPHA:648
HP:0008897	Postnatal growth retardation	51025	PAM16	OMIM:613320
HP:0008897	Postnatal growth retardation	8260	NAA10	ORPHA:276432
HP:0008897	Postnatal growth retardation	8260	NAA10	OMIM:300855
HP:0008897	Postnatal growth retardation	9900	SV2A	OMIM:620772
HP:0008897	Postnatal growth retardation	3479	IGF1	ORPHA:73272
HP:0008897	Postnatal growth retardation	3479	IGF1	OMIM:608747
HP:0008897	Postnatal growth retardation	51750	RTEL1	OMIM:615190
HP:0008897	Postnatal growth retardation	5648	MASP1	OMIM:257920
HP:0008897	Postnatal growth retardation	5648	MASP1	ORPHA:293843
HP:0008897	Postnatal growth retardation	8573	CASK	OMIM:300749
HP:0008897	Postnatal growth retardation	6091	ROBO1	OMIM:620305
HP:0008897	Postnatal growth retardation	2355	FOSL2	OMIM:620789
HP:0008897	Postnatal growth retardation	100151683	RNU4ATAC	ORPHA:353298
HP:0008897	Postnatal growth retardation	100151683	RNU4ATAC	OMIM:616651
HP:0008897	Postnatal growth retardation	253738	EBF3	ORPHA:96148
HP:0008897	Postnatal growth retardation	546	ATRX	OMIM:301040
HP:0008897	Postnatal growth retardation	4173	MCM4	OMIM:609981
HP:0008897	Postnatal growth retardation	55869	HDAC8	OMIM:300882
HP:0008897	Postnatal growth retardation	6514	SLC2A2	OMIM:227810
HP:0008897	Postnatal growth retardation	9871	SEC24D	OMIM:616294
HP:0008897	Postnatal growth retardation	10229	COQ7	OMIM:616733
HP:0008897	Postnatal growth retardation	83990	BRIP1	OMIM:609054
HP:0008897	Postnatal growth retardation	131118	DNAJC19	OMIM:610198
HP:0008897	Postnatal growth retardation	55784	MCTP2	ORPHA:1596
HP:0008897	Postnatal growth retardation	8085	KMT2D	ORPHA:2322
HP:0008897	Postnatal growth retardation	8085	KMT2D	OMIM:147920
HP:0008897	Postnatal growth retardation	7403	KDM6A	ORPHA:2322
HP:0008897	Postnatal growth retardation	7403	KDM6A	OMIM:300867
HP:0008897	Postnatal growth retardation	7403	KDM6A	OMIM:147920
HP:0008897	Postnatal growth retardation	2033	EP300	ORPHA:353284
HP:0008897	Postnatal growth retardation	2033	EP300	OMIM:180849
HP:0008897	Postnatal growth retardation	9837	GINS1	OMIM:617827
HP:0008897	Postnatal growth retardation	54808	DYM	OMIM:223800
HP:0008897	Postnatal growth retardation	473	RERE	ORPHA:494344
HP:0008897	Postnatal growth retardation	55777	MBD5	OMIM:156200
HP:0008897	Postnatal growth retardation	4621	MYH3	OMIM:193700
HP:0008897	Postnatal growth retardation	7468	NSD2	OMIM:619695
HP:0008897	Postnatal growth retardation	3643	INSR	OMIM:246200
HP:0008897	Postnatal growth retardation	3643	INSR	ORPHA:508
HP:0008897	Postnatal growth retardation	6597	SMARCA4	ORPHA:1465
HP:0008897	Postnatal growth retardation	6598	SMARCB1	ORPHA:1465
HP:0008897	Postnatal growth retardation	6659	SOX4	ORPHA:1465
HP:0008897	Postnatal growth retardation	8289	ARID1A	ORPHA:1465
HP:0008897	Postnatal growth retardation	5977	DPF2	ORPHA:1465
HP:0008897	Postnatal growth retardation	6601	SMARCC2	ORPHA:1465
HP:0008897	Postnatal growth retardation	6602	SMARCD1	ORPHA:1465
HP:0008897	Postnatal growth retardation	196528	ARID2	ORPHA:1465
HP:0008897	Postnatal growth retardation	6605	SMARCE1	ORPHA:1465
HP:0008897	Postnatal growth retardation	6664	SOX11	ORPHA:1465
HP:0008897	Postnatal growth retardation	6550	SLC9A3	OMIM:616868
HP:0008897	Postnatal growth retardation	64131	XYLT1	OMIM:615777
HP:0008897	Postnatal growth retardation	5257	PHKB	ORPHA:79240
HP:0008897	Postnatal growth retardation	9820	CUL7	OMIM:273750
HP:0008897	Postnatal growth retardation	259232	NALCN	OMIM:615419
HP:0008897	Postnatal growth retardation	25942	SIN3A	ORPHA:94065
HP:0008897	Postnatal growth retardation	1641	DCX	OMIM:300067
HP:0008897	Postnatal growth retardation	9509	ADAMTS2	OMIM:225410
HP:0008897	Postnatal growth retardation	8985	PLOD3	OMIM:612394
HP:0008897	Postnatal growth retardation	5144	PDE4D	ORPHA:439822
HP:0008897	Postnatal growth retardation	545	ATR	OMIM:210600
HP:0008897	Postnatal growth retardation	5332	PLCB4	OMIM:620458
HP:0008897	Postnatal growth retardation	5116	PCNT	OMIM:210720
HP:0008897	Postnatal growth retardation	4990	SIX6	OMIM:206900
HP:0008897	Postnatal growth retardation	6657	SOX2	OMIM:206900
HP:0008897	Postnatal growth retardation	8883	NAE1	OMIM:620210
HP:0008897	Postnatal growth retardation	60	ACTB	OMIM:243310
HP:0008897	Postnatal growth retardation	6197	RPS6KA3	ORPHA:192
HP:0008897	Postnatal growth retardation	6628	SNRPB	OMIM:117650
HP:0008897	Postnatal growth retardation	57061	HYMAI	ORPHA:96191
HP:0008897	Postnatal growth retardation	5325	PLAGL1	ORPHA:96191
HP:0008897	Postnatal growth retardation	1387	CREBBP	OMIM:180849
HP:0008897	Postnatal growth retardation	1387	CREBBP	ORPHA:353277
HP:0008897	Postnatal growth retardation	25782	RAB3GAP2	OMIM:614225
HP:0008897	Postnatal growth retardation	22931	RAB18	OMIM:614222
HP:0008897	Postnatal growth retardation	998	CDC42	ORPHA:487796
HP:0008897	Postnatal growth retardation	54796	BNC2	ORPHA:93110
HP:0008897	Postnatal growth retardation	6513	SLC2A1	ORPHA:168577
HP:0008897	Postnatal growth retardation	84665	MYPN	ORPHA:75249
HP:0008897	Postnatal growth retardation	2318	FLNC	ORPHA:75249
HP:0008897	Postnatal growth retardation	7139	TNNT2	ORPHA:75249
HP:0008897	Postnatal growth retardation	7137	TNNI3	ORPHA:75249
HP:0008897	Postnatal growth retardation	10112	KIF20A	ORPHA:75249
HP:0008897	Postnatal growth retardation	6925	TCF4	ORPHA:2896
HP:0008897	Postnatal growth retardation	2887	GRB10	ORPHA:96182
HP:0008897	Postnatal growth retardation	25839	COG4	OMIM:618150
HP:0008897	Postnatal growth retardation	2760	GM2A	ORPHA:309246
HP:0008897	Postnatal growth retardation	60676	PAPPA2	OMIM:619489
HP:0008897	Postnatal growth retardation	10651	MTX2	OMIM:619127
HP:0008897	Postnatal growth retardation	28952	CCDC22	OMIM:300963
HP:0008897	Postnatal growth retardation	28952	CCDC22	ORPHA:7
HP:0008897	Postnatal growth retardation	60528	ELAC2	OMIM:615440
HP:0008897	Postnatal growth retardation	5261	PHKG2	OMIM:613027
HP:0008897	Postnatal growth retardation	64093	SMOC1	OMIM:206920
HP:0008897	Postnatal growth retardation	284086	NEK8	OMIM:613824
HP:0008897	Postnatal growth retardation	118924	FRA10AC1	OMIM:620113
HP:0008897	Postnatal growth retardation	5456	POU3F4	ORPHA:1435
HP:0008897	Postnatal growth retardation	55599	RNPC3	OMIM:618160
HP:0008897	Postnatal growth retardation	126792	B3GALT6	ORPHA:536467
HP:0008897	Postnatal growth retardation	57020	VPS35L	OMIM:619135
HP:0008897	Postnatal growth retardation	57020	VPS35L	ORPHA:7
HP:0008897	Postnatal growth retardation	139818	DOCK11	OMIM:301109
HP:0008897	Postnatal growth retardation	523	ATP6V1A	ORPHA:357074
HP:0008897	Postnatal growth retardation	529	ATP6V1E1	ORPHA:357074
HP:0008897	Postnatal growth retardation	1663	DDX11	OMIM:613398
HP:0008897	Postnatal growth retardation	2990	GUSB	OMIM:253220
HP:0008897	Postnatal growth retardation	6137	RPL13	OMIM:618728
HP:0008897	Postnatal growth retardation	383	ARG1	OMIM:207800
HP:0008897	Postnatal growth retardation	51594	NBAS	OMIM:614800
HP:0008897	Postnatal growth retardation	10584	COLEC10	ORPHA:293843
HP:0008897	Postnatal growth retardation	22800	RRAS2	ORPHA:648
HP:0008897	Postnatal growth retardation	8216	LZTR1	ORPHA:648
HP:0008897	Postnatal growth retardation	6016	RIT1	ORPHA:648
HP:0008897	Postnatal growth retardation	6237	RRAS	ORPHA:648
HP:0008897	Postnatal growth retardation	5894	RAF1	ORPHA:648
HP:0008897	Postnatal growth retardation	22808	MRAS	ORPHA:648
HP:0008897	Postnatal growth retardation	3845	KRAS	ORPHA:648
HP:0008897	Postnatal growth retardation	200734	SPRED2	ORPHA:648
HP:0008897	Postnatal growth retardation	4893	NRAS	ORPHA:648
HP:0008897	Postnatal growth retardation	6654	SOS1	ORPHA:648
HP:0008897	Postnatal growth retardation	6655	SOS2	ORPHA:648
HP:0008897	Postnatal growth retardation	5781	PTPN11	ORPHA:648
HP:0008897	Postnatal growth retardation	5781	PTPN11	OMIM:163950
HP:0008897	Postnatal growth retardation	5922	RASA2	ORPHA:648
HP:0008897	Postnatal growth retardation	6522	SLC4A2	OMIM:620366
HP:0008897	Postnatal growth retardation	1585	CYP11B2	ORPHA:556030
HP:0008897	Postnatal growth retardation	10079	ATP9A	OMIM:620242
HP:0008897	Postnatal growth retardation	9897	WASHC5	ORPHA:7
HP:0008897	Postnatal growth retardation	56896	DPYSL5	ORPHA:7
HP:0008897	Postnatal growth retardation	80169	CTC1	OMIM:612199
HP:0008897	Postnatal growth retardation	5130	PCYT1A	OMIM:608940
HP:0008897	Postnatal growth retardation	63901	FAM111A	ORPHA:93325
HP:0008897	Postnatal growth retardation	5604	MAP2K1	OMIM:163950
HP:0008846	Severe intrauterine growth retardation	157570	ESCO2	OMIM:268300
HP:0008846	Severe intrauterine growth retardation	157570	ESCO2	ORPHA:3103
HP:0008846	Severe intrauterine growth retardation	3479	IGF1	ORPHA:73272
HP:0008846	Severe intrauterine growth retardation	2887	GRB10	ORPHA:96182
HP:0008846	Severe intrauterine growth retardation	9401	RECQL4	OMIM:218600
HP:0008846	Severe intrauterine growth retardation	197131	UBR1	OMIM:243800
HP:0008846	Severe intrauterine growth retardation	3481	IGF2	ORPHA:231144
HP:0008846	Severe intrauterine growth retardation	283120	H19	ORPHA:231144
HP:0008846	Severe intrauterine growth retardation	10436	EMG1	ORPHA:1270
HP:0008846	Severe intrauterine growth retardation	6905	TBCE	OMIM:241410
HP:0008846	Severe intrauterine growth retardation	6905	TBCE	ORPHA:2323
HP:0008846	Severe intrauterine growth retardation	9702	CEP57	OMIM:614114
HP:0008846	Severe intrauterine growth retardation	3643	INSR	ORPHA:508
HP:0008846	Severe intrauterine growth retardation	90459	ERI1	OMIM:620663
HP:0008846	Severe intrauterine growth retardation	11128	POLR3A	ORPHA:3455
HP:0008846	Severe intrauterine growth retardation	51199	NIN	ORPHA:319675
HP:0008846	Severe intrauterine growth retardation	256297	PTF1A	OMIM:609069
HP:0008845	Mesomelic short stature	9321	TRIP11	OMIM:184260
HP:0008845	Mesomelic short stature	6473	SHOX	OMIM:249700
HP:0031728	Mild hypermetropia	78987	CRELD1	OMIM:620771
HP:0031729	Moderate hypermetropia	23345	SYNE1	ORPHA:319332
HP:0031729	Moderate hypermetropia	388552	BLOC1S3	OMIM:614077
HP:0031721	Sensory exotropia	55605	KIF21A	OMIM:135700
HP:0031723	Secondary esotropia	55605	KIF21A	OMIM:135700
HP:0034980	Synkinesis	3730	ANOS1	OMIM:308700
HP:0034980	Synkinesis	3730	ANOS1	ORPHA:478
HP:0034980	Synkinesis	5888	RAD51	ORPHA:238722
HP:0034980	Synkinesis	5888	RAD51	OMIM:157600
HP:0034980	Synkinesis	5888	RAD51	OMIM:614508
HP:0034980	Synkinesis	10126	DNAL4	ORPHA:238722
HP:0034980	Synkinesis	10126	DNAL4	OMIM:616059
HP:0034980	Synkinesis	9423	NTN1	ORPHA:238722
HP:0034980	Synkinesis	9423	NTN1	OMIM:157600
HP:0034980	Synkinesis	9423	NTN1	OMIM:618264
HP:0034980	Synkinesis	1630	DCC	ORPHA:238722
HP:0034980	Synkinesis	1630	DCC	OMIM:157600
HP:0034980	Synkinesis	1630	DCC	OMIM:617542
HP:0034980	Synkinesis	1630	DCC	ORPHA:478
HP:0034980	Synkinesis	128674	PROKR2	OMIM:244200
HP:0034980	Synkinesis	128674	PROKR2	ORPHA:478
HP:0034980	Synkinesis	22995	CEP152	OMIM:614852
HP:0034980	Synkinesis	2260	FGFR1	OMIM:147950
HP:0034980	Synkinesis	2260	FGFR1	ORPHA:478
HP:0034980	Synkinesis	6091	ROBO1	OMIM:620305
HP:0034980	Synkinesis	10371	SEMA3A	OMIM:614897
HP:0034980	Synkinesis	10371	SEMA3A	ORPHA:478
HP:0034980	Synkinesis	374969	SVBP	OMIM:618569
HP:0034980	Synkinesis	57082	KNL1	OMIM:604321
HP:0034980	Synkinesis	9215	LARGE1	OMIM:608840
HP:0034980	Synkinesis	81848	SPRY4	ORPHA:478
HP:0034980	Synkinesis	23767	FLRT3	ORPHA:478
HP:0034980	Synkinesis	79625	NDNF	ORPHA:478
HP:0034980	Synkinesis	2253	FGF8	ORPHA:478
HP:0034980	Synkinesis	389549	FEZF1	ORPHA:478
HP:0034980	Synkinesis	54756	IL17RD	ORPHA:478
HP:0034980	Synkinesis	6663	SOX10	ORPHA:478
HP:0034980	Synkinesis	285025	CCDC141	ORPHA:478
HP:0034980	Synkinesis	60675	PROK2	ORPHA:478
HP:0034980	Synkinesis	60675	PROK2	OMIM:610628
HP:0034980	Synkinesis	55636	CHD7	ORPHA:478
HP:0034980	Synkinesis	1848	DUSP6	ORPHA:478
HP:0034980	Synkinesis	6870	TACR3	ORPHA:478
HP:0034980	Synkinesis	55717	WDR11	ORPHA:478
HP:0034980	Synkinesis	9394	HS6ST1	ORPHA:478
HP:0034980	Synkinesis	8820	HESX1	ORPHA:478
HP:0034980	Synkinesis	8822	FGF17	ORPHA:478
HP:0034980	Synkinesis	1000	CDH2	OMIM:618929
HP:0034980	Synkinesis	10430	TMEM147	OMIM:620075
HP:0034980	Synkinesis	9573	GDF3	ORPHA:2345
HP:0034980	Synkinesis	392255	GDF6	ORPHA:2345
HP:0034980	Synkinesis	4222	MEOX1	ORPHA:2345
HP:0034985	Reduced cellular cobalamin uptake	51293	CD320	OMIM:613646
HP:0011406	Infancy onset short-trunk short stature	8838	CCN6	ORPHA:1159
HP:0011406	Infancy onset short-trunk short stature	22827	PUF60	ORPHA:508488
HP:0011406	Infancy onset short-trunk short stature	2972	BRF1	ORPHA:444072
HP:0008873	Disproportionate short-limb short stature	79848	CSPP1	ORPHA:397715
HP:0008873	Disproportionate short-limb short stature	9786	KIAA0586	ORPHA:397715
HP:0008873	Disproportionate short-limb short stature	2263	FGFR2	OMIM:101200
HP:0008873	Disproportionate short-limb short stature	171023	ASXL1	OMIM:605039
HP:0008873	Disproportionate short-limb short stature	9321	TRIP11	OMIM:184260
HP:0008873	Disproportionate short-limb short stature	1311	COMP	ORPHA:750
HP:0008873	Disproportionate short-limb short stature	1311	COMP	OMIM:177170
HP:0008873	Disproportionate short-limb short stature	1311	COMP	OMIM:132400
HP:0008873	Disproportionate short-limb short stature	9653	HS2ST1	OMIM:619194
HP:0008873	Disproportionate short-limb short stature	4921	DDR2	OMIM:271665
HP:0008873	Disproportionate short-limb short stature	8200	GDF5	OMIM:200700
HP:0008873	Disproportionate short-limb short stature	8200	GDF5	ORPHA:2098
HP:0008873	Disproportionate short-limb short stature	2261	FGFR3	OMIM:187600
HP:0008873	Disproportionate short-limb short stature	2261	FGFR3	OMIM:146000
HP:0008873	Disproportionate short-limb short stature	65992	DDRGK1	OMIM:602557
HP:0008873	Disproportionate short-limb short stature	4882	NPR2	OMIM:602875
HP:0008873	Disproportionate short-limb short stature	1280	COL2A1	OMIM:184250
HP:0008873	Disproportionate short-limb short stature	1280	COL2A1	ORPHA:85166
HP:0008873	Disproportionate short-limb short stature	1280	COL2A1	OMIM:200610
HP:0008873	Disproportionate short-limb short stature	9851	KIAA0753	OMIM:619479
HP:0008873	Disproportionate short-limb short stature	145173	B3GLCT	OMIM:261540
HP:0008873	Disproportionate short-limb short stature	145173	B3GLCT	ORPHA:709
HP:0008873	Disproportionate short-limb short stature	658	BMPR1B	ORPHA:2098
HP:0008873	Disproportionate short-limb short stature	658	BMPR1B	OMIM:609441
HP:0008873	Disproportionate short-limb short stature	3636	INPPL1	ORPHA:3144
HP:0008873	Disproportionate short-limb short stature	3636	INPPL1	OMIM:258480
HP:0008873	Disproportionate short-limb short stature	23169	SLC35D1	ORPHA:3144
HP:0008873	Disproportionate short-limb short stature	23169	SLC35D1	OMIM:269250
HP:0008873	Disproportionate short-limb short stature	1277	COL1A1	OMIM:259420
HP:0008873	Disproportionate short-limb short stature	1277	COL1A1	OMIM:166210
HP:0008873	Disproportionate short-limb short stature	1278	COL1A2	OMIM:259420
HP:0008873	Disproportionate short-limb short stature	1278	COL1A2	OMIM:166210
HP:0008873	Disproportionate short-limb short stature	4796	TONSL	ORPHA:93357
HP:0008873	Disproportionate short-limb short stature	4796	TONSL	OMIM:271510
HP:0008873	Disproportionate short-limb short stature	6473	SHOX	OMIM:127300
HP:0008873	Disproportionate short-limb short stature	6473	SHOX	ORPHA:2632
HP:0008873	Disproportionate short-limb short stature	6473	SHOX	ORPHA:240
HP:0008873	Disproportionate short-limb short stature	4148	MATN3	OMIM:608728
HP:0008873	Disproportionate short-limb short stature	4148	MATN3	ORPHA:156728
HP:0008873	Disproportionate short-limb short stature	8540	AGPS	OMIM:600121
HP:0008873	Disproportionate short-limb short stature	59341	TRPV4	OMIM:156530
HP:0008873	Disproportionate short-limb short stature	55112	DYNC2I1	ORPHA:93271
HP:0008873	Disproportionate short-limb short stature	57560	IFT80	ORPHA:93271
HP:0008873	Disproportionate short-limb short stature	57539	WDR35	ORPHA:93271
HP:0008873	Disproportionate short-limb short stature	79659	DYNC2H1	ORPHA:93271
HP:0008873	Disproportionate short-limb short stature	89891	DYNC2I2	ORPHA:93271
HP:0008873	Disproportionate short-limb short stature	1836	SLC26A2	OMIM:222600
HP:0008873	Disproportionate short-limb short stature	249	ALPL	OMIM:241500
HP:0008873	Disproportionate short-limb short stature	2137	EXTL3	OMIM:617425
HP:0008873	Disproportionate short-limb short stature	6662	SOX9	OMIM:114290
HP:0008873	Disproportionate short-limb short stature	124583	CANT1	OMIM:251450
HP:0008873	Disproportionate short-limb short stature	124583	CANT1	ORPHA:1425
HP:0008873	Disproportionate short-limb short stature	64175	P3H1	OMIM:610915
HP:0008873	Disproportionate short-limb short stature	3930	LBR	OMIM:215140
HP:0008873	Disproportionate short-limb short stature	3930	LBR	OMIM:618019
HP:0008873	Disproportionate short-limb short stature	1300	COL10A1	ORPHA:174
HP:0008873	Disproportionate short-limb short stature	6023	RMRP	ORPHA:175
HP:0008873	Disproportionate short-limb short stature	132884	EVC2	OMIM:225500
HP:0008873	Disproportionate short-limb short stature	2121	EVC	OMIM:225500
HP:0008873	Disproportionate short-limb short stature	3339	HSPG2	OMIM:224410
HP:0008873	Disproportionate short-limb short stature	11014	KDELR2	OMIM:619131
HP:0008873	Disproportionate short-limb short stature	7518	XRCC4	OMIM:616541
HP:0008873	Disproportionate short-limb short stature	10082	GPC6	OMIM:258315
HP:0008873	Disproportionate short-limb short stature	23184	MESD	OMIM:618644
HP:0008873	Disproportionate short-limb short stature	5479	PPIB	OMIM:259440
HP:0008873	Disproportionate short-limb short stature	64359	NXN	ORPHA:1507
HP:0008873	Disproportionate short-limb short stature	4920	ROR2	ORPHA:1507
HP:0008873	Disproportionate short-limb short stature	64116	SLC39A8	ORPHA:468699
HP:0008873	Disproportionate short-limb short stature	29110	TBK1	OMIM:620880
HP:0008873	Disproportionate short-limb short stature	64131	XYLT1	ORPHA:1425
HP:0008873	Disproportionate short-limb short stature	55790	CSGALNACT1	ORPHA:1425
HP:0008873	Disproportionate short-limb short stature	2317	FLNB	OMIM:108720
HP:0008873	Disproportionate short-limb short stature	1513	CTSK	ORPHA:763
HP:0008873	Disproportionate short-limb short stature	3549	IHH	OMIM:607778
HP:0008873	Disproportionate short-limb short stature	406932	MIR140	OMIM:618618
HP:0008873	Disproportionate short-limb short stature	5573	PRKAR1A	OMIM:101800
HP:0008873	Disproportionate short-limb short stature	286053	NSMCE2	ORPHA:436182
HP:0008873	Disproportionate short-limb short stature	1718	DHCR24	OMIM:602398
HP:0008873	Disproportionate short-limb short stature	10586	MAB21L2	OMIM:615877
HP:0008873	Disproportionate short-limb short stature	755	CFAP410	OMIM:602271
HP:0008873	Disproportionate short-limb short stature	8443	GNPAT	OMIM:222765
HP:0008873	Disproportionate short-limb short stature	8942	KYNU	OMIM:617661
HP:0008873	Disproportionate short-limb short stature	114803	MYSM1	OMIM:618116
HP:0008873	Disproportionate short-limb short stature	1717	DHCR7	ORPHA:818
HP:0008873	Disproportionate short-limb short stature	176	ACAN	OMIM:612813
HP:0008873	Disproportionate short-limb short stature	176	ACAN	ORPHA:171866
HP:0008873	Disproportionate short-limb short stature	112752	IFT43	ORPHA:1515
HP:0008873	Disproportionate short-limb short stature	112752	IFT43	OMIM:614099
HP:0008873	Disproportionate short-limb short stature	51098	IFT52	ORPHA:1515
HP:0008873	Disproportionate short-limb short stature	55764	IFT122	ORPHA:1515
HP:0008873	Disproportionate short-limb short stature	55764	IFT122	OMIM:218330
HP:0008873	Disproportionate short-limb short stature	57728	WDR19	ORPHA:1515
HP:0008873	Disproportionate short-limb short stature	57728	WDR19	OMIM:614376
HP:0008873	Disproportionate short-limb short stature	9382	COG1	OMIM:611209
HP:0008873	Disproportionate short-limb short stature	9382	COG1	ORPHA:263508
HP:0008873	Disproportionate short-limb short stature	54808	DYM	OMIM:223800
HP:0008873	Disproportionate short-limb short stature	54808	DYM	ORPHA:239
HP:0008873	Disproportionate short-limb short stature	9469	CHST3	ORPHA:263463
HP:0008873	Disproportionate short-limb short stature	9469	CHST3	OMIM:143095
HP:0008873	Disproportionate short-limb short stature	9469	CHST3	OMIM:245600
HP:0008873	Disproportionate short-limb short stature	90993	CREB3L1	OMIM:616229
HP:0008873	Disproportionate short-limb short stature	5191	PEX7	OMIM:215100
HP:0008873	Disproportionate short-limb short stature	79087	ALG12	OMIM:607143
HP:0008873	Disproportionate short-limb short stature	372	ARCN1	OMIM:617164
HP:0008873	Disproportionate short-limb short stature	10013	HDAC6	OMIM:300863
HP:0008873	Disproportionate short-limb short stature	10013	HDAC6	ORPHA:163966
HP:0008873	Disproportionate short-limb short stature	5745	PTH1R	ORPHA:50945
HP:0008873	Disproportionate short-limb short stature	4297	KMT2A	ORPHA:319182
HP:0008873	Disproportionate short-limb short stature	1301	COL11A1	OMIM:228520
HP:0008873	Disproportionate short-limb short stature	1301	COL11A1	ORPHA:440354
HP:0008873	Disproportionate short-limb short stature	2475	MTOR	OMIM:616638
HP:0008873	Disproportionate short-limb short stature	4322	MMP13	OMIM:602111
HP:0008873	Disproportionate short-limb short stature	64841	GNPNAT1	OMIM:619598
HP:0008873	Disproportionate short-limb short stature	5593	PRKG2	OMIM:619638
HP:0008873	Disproportionate short-limb short stature	5593	PRKG2	OMIM:619636
HP:0008873	Disproportionate short-limb short stature	91461	PKDCC	OMIM:618821
HP:0008873	Disproportionate short-limb short stature	145258	GSC	OMIM:602471
HP:0008873	Disproportionate short-limb short stature	51360	MBTPS2	OMIM:301014
HP:0008873	Disproportionate short-limb short stature	79796	ALG9	ORPHA:79328
HP:0008873	Disproportionate short-limb short stature	5130	PCYT1A	ORPHA:85167
HP:0008873	Disproportionate short-limb short stature	5130	PCYT1A	OMIM:608940
HP:0008873	Disproportionate short-limb short stature	9702	CEP57	OMIM:614114
HP:0008873	Disproportionate short-limb short stature	2260	FGFR1	ORPHA:2645
HP:0008873	Disproportionate short-limb short stature	2260	FGFR1	OMIM:166250
HP:0008873	Disproportionate short-limb short stature	23387	SIK3	OMIM:618162
HP:0008873	Disproportionate short-limb short stature	153241	CEP120	OMIM:616300
HP:0008873	Disproportionate short-limb short stature	10491	CRTAP	OMIM:610682
HP:0008873	Disproportionate short-limb short stature	7474	WNT5A	OMIM:180700
HP:0008873	Disproportionate short-limb short stature	1855	DVL1	OMIM:180700
HP:0008873	Disproportionate short-limb short stature	10682	EBP	OMIM:302960
HP:0008873	Disproportionate short-limb short stature	26229	B3GAT3	OMIM:245600
HP:0008873	Disproportionate short-limb short stature	6913	TBX15	OMIM:260660
HP:0008873	Disproportionate short-limb short stature	9742	IFT140	OMIM:266920
HP:0008873	Disproportionate short-limb short stature	81570	CLPB	OMIM:616271
HP:0008873	Disproportionate short-limb short stature	2535	FZD2	ORPHA:93328
HP:0008873	Disproportionate short-limb short stature	25886	POC1A	OMIM:614813
HP:0008873	Disproportionate short-limb short stature	871	SERPINH1	OMIM:613848
HP:0008873	Disproportionate short-limb short stature	2879	GPX4	OMIM:250220
HP:0008873	Disproportionate short-limb short stature	5566	PRKACA	ORPHA:289
HP:0008873	Disproportionate short-limb short stature	5567	PRKACB	ORPHA:289
HP:0008873	Disproportionate short-limb short stature	2735	GLI1	ORPHA:289
HP:0008873	Disproportionate short-limb short stature	51626	DYNC2LI1	ORPHA:289
HP:0000823	Delayed puberty	1497	CTNS	OMIM:219800
HP:0000823	Delayed puberty	8450	CUL4B	OMIM:300354
HP:0000823	Delayed puberty	6938	TCF12	OMIM:619718
HP:0000823	Delayed puberty	6777	STAT5B	OMIM:618985
HP:0000823	Delayed puberty	3643	INSR	ORPHA:2297
HP:0000823	Delayed puberty	125150	ZSWIM7	OMIM:619834
HP:0000823	Delayed puberty	125150	ZSWIM7	ORPHA:243
HP:0000823	Delayed puberty	2542	SLC37A4	OMIM:232220
HP:0000823	Delayed puberty	2542	SLC37A4	OMIM:232240
HP:0000823	Delayed puberty	2542	SLC37A4	ORPHA:79259
HP:0000823	Delayed puberty	5447	POR	ORPHA:95699
HP:0000823	Delayed puberty	1729	DIAPH1	ORPHA:477814
HP:0000823	Delayed puberty	4312	MMP1	ORPHA:79408
HP:0000823	Delayed puberty	1294	COL7A1	ORPHA:79408
HP:0000823	Delayed puberty	1294	COL7A1	ORPHA:89842
HP:0000823	Delayed puberty	2099	ESR1	OMIM:615363
HP:0000823	Delayed puberty	1528	CYB5A	ORPHA:90796
HP:0000823	Delayed puberty	1586	CYP17A1	ORPHA:90796
HP:0000823	Delayed puberty	1586	CYP17A1	ORPHA:90793
HP:0000823	Delayed puberty	4221	MEN1	ORPHA:2965
HP:0000823	Delayed puberty	64072	CDH23	ORPHA:2965
HP:0000823	Delayed puberty	64072	CDH23	ORPHA:91347
HP:0000823	Delayed puberty	9049	AIP	ORPHA:2965
HP:0000823	Delayed puberty	472	ATM	OMIM:208900
HP:0000823	Delayed puberty	472	ATM	ORPHA:100
HP:0000823	Delayed puberty	2314	FLII	ORPHA:819
HP:0000823	Delayed puberty	23096	IQSEC2	ORPHA:819
HP:0000823	Delayed puberty	10743	RAI1	ORPHA:819
HP:0000823	Delayed puberty	10522	DEAF1	ORPHA:819
HP:0000823	Delayed puberty	10908	PNPLA6	OMIM:275400
HP:0000823	Delayed puberty	55636	CHD7	ORPHA:138
HP:0000823	Delayed puberty	55636	CHD7	OMIM:214800
HP:0000823	Delayed puberty	55636	CHD7	ORPHA:478
HP:0000823	Delayed puberty	55636	CHD7	ORPHA:432
HP:0000823	Delayed puberty	9723	SEMA3E	ORPHA:138
HP:0000823	Delayed puberty	6926	TBX3	ORPHA:3138
HP:0000823	Delayed puberty	6926	TBX3	OMIM:181450
HP:0000823	Delayed puberty	6772	STAT1	OMIM:614162
HP:0000823	Delayed puberty	6772	STAT1	ORPHA:391487
HP:0000823	Delayed puberty	6884	TAF13	OMIM:617432
HP:0000823	Delayed puberty	7040	TGFB1	OMIM:131300
HP:0000823	Delayed puberty	7040	TGFB1	ORPHA:1328
HP:0000823	Delayed puberty	3483	IGFALS	ORPHA:140941
HP:0000823	Delayed puberty	3483	IGFALS	OMIM:615961
HP:0000823	Delayed puberty	2796	GNRH1	OMIM:614841
HP:0000823	Delayed puberty	2796	GNRH1	ORPHA:432
HP:0000823	Delayed puberty	2538	G6PC1	OMIM:232200
HP:0000823	Delayed puberty	55366	LGR4	OMIM:619613
HP:0000823	Delayed puberty	3953	LEPR	OMIM:614963
HP:0000823	Delayed puberty	79184	BRCC3	ORPHA:280679
HP:0000823	Delayed puberty	3117	HLA-DQA1	OMIM:212750
HP:0000823	Delayed puberty	3119	HLA-DQB1	OMIM:212750
HP:0000823	Delayed puberty	157680	VPS13B	OMIM:216550
HP:0000823	Delayed puberty	157680	VPS13B	ORPHA:193
HP:0000823	Delayed puberty	51651	PTRH2	ORPHA:456312
HP:0000823	Delayed puberty	51651	PTRH2	OMIM:616263
HP:0000823	Delayed puberty	833	CARS1	OMIM:618891
HP:0000823	Delayed puberty	6662	SOX9	ORPHA:251510
HP:0000823	Delayed puberty	6845	VAMP7	ORPHA:251510
HP:0000823	Delayed puberty	51741	WWOX	ORPHA:251510
HP:0000823	Delayed puberty	4214	MAP3K1	ORPHA:251510
HP:0000823	Delayed puberty	2516	NR5A1	ORPHA:251510
HP:0000823	Delayed puberty	2516	NR5A1	ORPHA:243
HP:0000823	Delayed puberty	7490	WT1	ORPHA:251510
HP:0000823	Delayed puberty	57647	DHX37	ORPHA:251510
HP:0000823	Delayed puberty	6736	SRY	ORPHA:251510
HP:0000823	Delayed puberty	6736	SRY	ORPHA:1772
HP:0000823	Delayed puberty	23414	ZFPM2	ORPHA:251510
HP:0000823	Delayed puberty	190	NR0B1	ORPHA:251510
HP:0000823	Delayed puberty	190	NR0B1	OMIM:300200
HP:0000823	Delayed puberty	190	NR0B1	ORPHA:95702
HP:0000823	Delayed puberty	2626	GATA4	ORPHA:251510
HP:0000823	Delayed puberty	4853	NOTCH2	ORPHA:955
HP:0000823	Delayed puberty	374393	FAM111B	OMIM:615704
HP:0000823	Delayed puberty	1499	CTNNB1	ORPHA:54595
HP:0000823	Delayed puberty	673	BRAF	ORPHA:54595
HP:0000823	Delayed puberty	55131	RBM28	ORPHA:157954
HP:0000823	Delayed puberty	55131	RBM28	OMIM:612079
HP:0000823	Delayed puberty	8822	FGF17	OMIM:615270
HP:0000823	Delayed puberty	8822	FGF17	ORPHA:478
HP:0000823	Delayed puberty	8822	FGF17	ORPHA:432
HP:0000823	Delayed puberty	23767	FLRT3	OMIM:615271
HP:0000823	Delayed puberty	23767	FLRT3	ORPHA:478
HP:0000823	Delayed puberty	3043	HBB	ORPHA:231214
HP:0000823	Delayed puberty	3043	HBB	ORPHA:231226
HP:0000823	Delayed puberty	6774	STAT3	OMIM:615952
HP:0000823	Delayed puberty	8239	USP9X	ORPHA:480880
HP:0000823	Delayed puberty	493856	CISD2	ORPHA:3463
HP:0000823	Delayed puberty	7466	WFS1	ORPHA:3463
HP:0000823	Delayed puberty	7466	WFS1	ORPHA:411590
HP:0000823	Delayed puberty	6134	RPL10	ORPHA:459070
HP:0000823	Delayed puberty	128674	PROKR2	ORPHA:95496
HP:0000823	Delayed puberty	128674	PROKR2	ORPHA:478
HP:0000823	Delayed puberty	128674	PROKR2	ORPHA:432
HP:0000823	Delayed puberty	89884	LHX4	ORPHA:95496
HP:0000823	Delayed puberty	89884	LHX4	ORPHA:95494
HP:0000823	Delayed puberty	55717	WDR11	ORPHA:95496
HP:0000823	Delayed puberty	55717	WDR11	ORPHA:478
HP:0000823	Delayed puberty	55717	WDR11	ORPHA:432
HP:0000823	Delayed puberty	6091	ROBO1	ORPHA:95496
HP:0000823	Delayed puberty	8820	HESX1	ORPHA:95496
HP:0000823	Delayed puberty	8820	HESX1	ORPHA:95494
HP:0000823	Delayed puberty	8820	HESX1	ORPHA:478
HP:0000823	Delayed puberty	50937	CDON	ORPHA:95496
HP:0000823	Delayed puberty	23432	GPR161	ORPHA:95496
HP:0000823	Delayed puberty	11128	POLR3A	ORPHA:447896
HP:0000823	Delayed puberty	11128	POLR3A	OMIM:607694
HP:0000823	Delayed puberty	55210	ATAD3A	ORPHA:496790
HP:0000823	Delayed puberty	5626	PROP1	ORPHA:95494
HP:0000823	Delayed puberty	5626	PROP1	ORPHA:90695
HP:0000823	Delayed puberty	2736	GLI2	ORPHA:95494
HP:0000823	Delayed puberty	3170	FOXA2	ORPHA:95494
HP:0000823	Delayed puberty	5449	POU1F1	ORPHA:95494
HP:0000823	Delayed puberty	5015	OTX2	ORPHA:95494
HP:0000823	Delayed puberty	26137	ZBTB20	OMIM:259050
HP:0000823	Delayed puberty	3972	LHB	OMIM:228300
HP:0000823	Delayed puberty	59336	PRDM13	OMIM:619761
HP:0000823	Delayed puberty	84919	PPP1R15B	OMIM:616817
HP:0000823	Delayed puberty	84919	PPP1R15B	ORPHA:391408
HP:0000823	Delayed puberty	6638	SNRPN	ORPHA:98754
HP:0000823	Delayed puberty	6638	SNRPN	ORPHA:177904
HP:0000823	Delayed puberty	6638	SNRPN	ORPHA:177901
HP:0000823	Delayed puberty	4692	NDN	ORPHA:98754
HP:0000823	Delayed puberty	4692	NDN	ORPHA:177904
HP:0000823	Delayed puberty	4692	NDN	ORPHA:177901
HP:0000823	Delayed puberty	54551	MAGEL2	ORPHA:98754
HP:0000823	Delayed puberty	54551	MAGEL2	OMIM:176270
HP:0000823	Delayed puberty	54551	MAGEL2	ORPHA:177904
HP:0000823	Delayed puberty	54551	MAGEL2	ORPHA:177901
HP:0000823	Delayed puberty	4948	OCA2	ORPHA:98754
HP:0000823	Delayed puberty	4948	OCA2	ORPHA:177904
HP:0000823	Delayed puberty	4948	OCA2	ORPHA:177901
HP:0000823	Delayed puberty	2717	GLA	OMIM:301500
HP:0000823	Delayed puberty	2717	GLA	ORPHA:324
HP:0000823	Delayed puberty	5836	PYGL	ORPHA:369
HP:0000823	Delayed puberty	80324	PUS1	ORPHA:2598
HP:0000823	Delayed puberty	80324	PUS1	OMIM:600462
HP:0000823	Delayed puberty	51067	YARS2	ORPHA:2598
HP:0000823	Delayed puberty	29893	PSMC3IP	ORPHA:243
HP:0000823	Delayed puberty	29893	PSMC3IP	OMIM:614324
HP:0000823	Delayed puberty	171568	POLR3H	ORPHA:243
HP:0000823	Delayed puberty	9210	BMP15	ORPHA:243
HP:0000823	Delayed puberty	9210	BMP15	OMIM:300510
HP:0000823	Delayed puberty	57122	NUP107	ORPHA:243
HP:0000823	Delayed puberty	23514	SPIDR	ORPHA:243
HP:0000823	Delayed puberty	23514	SPIDR	OMIM:619665
HP:0000823	Delayed puberty	2492	FSHR	ORPHA:243
HP:0000823	Delayed puberty	56945	MRPS22	ORPHA:243
HP:0000823	Delayed puberty	56945	MRPS22	OMIM:618117
HP:0000823	Delayed puberty	646	BNC1	ORPHA:243
HP:0000823	Delayed puberty	4438	MSH4	ORPHA:243
HP:0000823	Delayed puberty	2629	GBA1	ORPHA:77261
HP:0000823	Delayed puberty	2629	GBA1	ORPHA:77259
HP:0000823	Delayed puberty	2629	GBA1	ORPHA:2072
HP:0000823	Delayed puberty	4509	MT-ATP8	ORPHA:480
HP:0000823	Delayed puberty	4567	MT-TL1	ORPHA:480
HP:0000823	Delayed puberty	50484	RRM2B	ORPHA:480
HP:0000823	Delayed puberty	5781	PTPN11	OMIM:151100
HP:0000823	Delayed puberty	5256	PHKA2	ORPHA:264580
HP:0000823	Delayed puberty	5261	PHKG2	ORPHA:264580
HP:0000823	Delayed puberty	93587	TRMT10A	OMIM:616033
HP:0000823	Delayed puberty	93587	TRMT10A	ORPHA:391408
HP:0000823	Delayed puberty	51053	GMNN	OMIM:616835
HP:0000823	Delayed puberty	6307	MSMO1	OMIM:616834
HP:0000823	Delayed puberty	6664	SOX11	OMIM:615866
HP:0000823	Delayed puberty	78995	HROB	OMIM:620897
HP:0000823	Delayed puberty	1188	CLCNKB	ORPHA:358
HP:0000823	Delayed puberty	6559	SLC12A3	ORPHA:358
HP:0000823	Delayed puberty	6559	SLC12A3	OMIM:263800
HP:0000823	Delayed puberty	2260	FGFR1	ORPHA:478
HP:0000823	Delayed puberty	2260	FGFR1	ORPHA:432
HP:0000823	Delayed puberty	2260	FGFR1	OMIM:147950
HP:0000823	Delayed puberty	10371	SEMA3A	ORPHA:478
HP:0000823	Delayed puberty	81848	SPRY4	ORPHA:478
HP:0000823	Delayed puberty	81848	SPRY4	ORPHA:432
HP:0000823	Delayed puberty	79625	NDNF	ORPHA:478
HP:0000823	Delayed puberty	2253	FGF8	ORPHA:478
HP:0000823	Delayed puberty	2253	FGF8	ORPHA:432
HP:0000823	Delayed puberty	2253	FGF8	OMIM:612702
HP:0000823	Delayed puberty	389549	FEZF1	ORPHA:478
HP:0000823	Delayed puberty	1630	DCC	ORPHA:478
HP:0000823	Delayed puberty	3730	ANOS1	ORPHA:478
HP:0000823	Delayed puberty	54756	IL17RD	ORPHA:478
HP:0000823	Delayed puberty	6663	SOX10	ORPHA:478
HP:0000823	Delayed puberty	285025	CCDC141	ORPHA:478
HP:0000823	Delayed puberty	60675	PROK2	ORPHA:478
HP:0000823	Delayed puberty	60675	PROK2	ORPHA:432
HP:0000823	Delayed puberty	1848	DUSP6	ORPHA:478
HP:0000823	Delayed puberty	1848	DUSP6	ORPHA:432
HP:0000823	Delayed puberty	6870	TACR3	ORPHA:478
HP:0000823	Delayed puberty	6870	TACR3	ORPHA:432
HP:0000823	Delayed puberty	9394	HS6ST1	ORPHA:478
HP:0000823	Delayed puberty	9394	HS6ST1	ORPHA:432
HP:0000823	Delayed puberty	6658	SOX3	ORPHA:90695
HP:0000823	Delayed puberty	950	SCARB2	ORPHA:77259
HP:0000823	Delayed puberty	55703	POLR3B	OMIM:607694
HP:0000823	Delayed puberty	9663	LPIN2	OMIM:609628
HP:0000823	Delayed puberty	26012	NSMF	ORPHA:432
HP:0000823	Delayed puberty	4808	NHLH2	ORPHA:432
HP:0000823	Delayed puberty	2798	GNRHR	ORPHA:432
HP:0000823	Delayed puberty	84634	KISS1R	ORPHA:432
HP:0000823	Delayed puberty	6866	TAC3	ORPHA:432
HP:0000823	Delayed puberty	3814	KISS1	ORPHA:432
HP:0000823	Delayed puberty	2245	FGD1	OMIM:305400
HP:0000823	Delayed puberty	5122	PCSK1	ORPHA:71528
HP:0000823	Delayed puberty	6885	MAP3K7	OMIM:617137
HP:0000823	Delayed puberty	5443	POMC	ORPHA:71526
HP:0000823	Delayed puberty	2690	GHR	ORPHA:314802
HP:0000823	Delayed puberty	2690	GHR	ORPHA:633
HP:0000823	Delayed puberty	100033413	SNORD116-1	OMIM:176270
HP:0000823	Delayed puberty	8924	HERC2	OMIM:176270
HP:0000823	Delayed puberty	23742	NPAP1	OMIM:176270
HP:0000823	Delayed puberty	338433	SNORD115-1	OMIM:176270
HP:0000823	Delayed puberty	7681	MKRN3	OMIM:176270
HP:0000823	Delayed puberty	145624	PWAR1	OMIM:176270
HP:0000823	Delayed puberty	3653	IPW	OMIM:176270
HP:0000823	Delayed puberty	791114	PWRN1	OMIM:176270
HP:0000823	Delayed puberty	2488	FSHB	ORPHA:52901
HP:0000823	Delayed puberty	1363	CPE	OMIM:619326
HP:0000823	Delayed puberty	10269	ZMPSTE24	ORPHA:90154
HP:0000823	Delayed puberty	4952	OCRL	ORPHA:534
HP:0000823	Delayed puberty	2592	GALT	ORPHA:79239
HP:0000823	Delayed puberty	114548	NLRP3	ORPHA:575
HP:0000823	Delayed puberty	6609	SMPD1	ORPHA:77293
HP:0000823	Delayed puberty	1583	CYP11A1	ORPHA:289548
HP:0000823	Delayed puberty	1583	CYP11A1	ORPHA:168558
HP:0000823	Delayed puberty	4000	LMNA	ORPHA:79474
HP:0000823	Delayed puberty	4763	NF1	ORPHA:97685
HP:0000823	Delayed puberty	23476	BRD4	ORPHA:199
HP:0000823	Delayed puberty	9126	SMC3	ORPHA:199
HP:0000823	Delayed puberty	8243	SMC1A	ORPHA:199
HP:0000823	Delayed puberty	6878	TAF6	ORPHA:199
HP:0000823	Delayed puberty	25836	NIPBL	ORPHA:199
HP:0000823	Delayed puberty	55869	HDAC8	ORPHA:199
HP:0000823	Delayed puberty	5885	RAD21	ORPHA:199
HP:0000823	Delayed puberty	953	ENTPD1	ORPHA:401810
HP:0000823	Delayed puberty	953	ENTPD1	OMIM:615683
HP:0000823	Delayed puberty	84265	POLR3GL	OMIM:619234
HP:0000823	Delayed puberty	6711	SPTBN1	OMIM:619475
HP:0000823	Delayed puberty	80152	CENPT	OMIM:618702
HP:0000823	Delayed puberty	2132	EXT2	ORPHA:52022
HP:0000823	Delayed puberty	60529	ALX4	ORPHA:52022
HP:0000823	Delayed puberty	51317	PHF21A	ORPHA:52022
HP:0000823	Delayed puberty	4841	NONO	OMIM:300967
HP:0000823	Delayed puberty	4841	NONO	ORPHA:466791
HP:0000823	Delayed puberty	79983	POF1B	OMIM:300604
HP:0000823	Delayed puberty	226	ALDOA	OMIM:611881
HP:0000823	Delayed puberty	6299	SALL1	ORPHA:857
HP:0000823	Delayed puberty	51339	DACT1	ORPHA:857
HP:0000823	Delayed puberty	84295	PHF6	OMIM:301900
HP:0000823	Delayed puberty	1984	EIF5A	OMIM:619376
HP:0000823	Delayed puberty	5236	PGM1	OMIM:614921
HP:0000823	Delayed puberty	695	BTK	OMIM:307200
HP:0000823	Delayed puberty	4693	NDP	ORPHA:649
HP:0000823	Delayed puberty	22930	RAB3GAP1	ORPHA:2510
HP:0000823	Delayed puberty	25782	RAB3GAP2	ORPHA:2510
HP:0000823	Delayed puberty	22931	RAB18	ORPHA:2510
HP:0000823	Delayed puberty	128637	TBC1D20	ORPHA:2510
HP:0000823	Delayed puberty	1968	EIF2S3	OMIM:300148
HP:0000823	Delayed puberty	7543	ZFX	OMIM:301118
HP:0000823	Delayed puberty	55315	SLC29A3	ORPHA:168569
HP:0000823	Delayed puberty	2693	GHSR	ORPHA:314811
HP:0000823	Delayed puberty	367	AR	ORPHA:99429
HP:0000823	Delayed puberty	9325	TRIP4	ORPHA:486815
HP:0000823	Delayed puberty	10273	STUB1	ORPHA:412057
HP:0000823	Delayed puberty	5192	PEX10	OMIM:614871
HP:0000823	Delayed puberty	10165	SLC25A13	ORPHA:247585
HP:0000823	Delayed puberty	7840	ALMS1	ORPHA:64
HP:0000823	Delayed puberty	10059	DNM1L	ORPHA:330050
HP:0000823	Delayed puberty	22800	RRAS2	ORPHA:648
HP:0000823	Delayed puberty	867	CBL	ORPHA:648
HP:0000823	Delayed puberty	8216	LZTR1	ORPHA:648
HP:0000823	Delayed puberty	6016	RIT1	ORPHA:648
HP:0000823	Delayed puberty	6237	RRAS	ORPHA:648
HP:0000823	Delayed puberty	5894	RAF1	ORPHA:648
HP:0000823	Delayed puberty	22808	MRAS	ORPHA:648
HP:0000823	Delayed puberty	3845	KRAS	ORPHA:648
HP:0000823	Delayed puberty	200734	SPRED2	ORPHA:648
HP:0000823	Delayed puberty	4893	NRAS	ORPHA:648
HP:0000823	Delayed puberty	6654	SOS1	ORPHA:648
HP:0000823	Delayed puberty	6655	SOS2	ORPHA:648
HP:0000823	Delayed puberty	5922	RASA2	ORPHA:648
HP:0008850	Severe postnatal growth retardation	23476	BRD4	ORPHA:199
HP:0008850	Severe postnatal growth retardation	9126	SMC3	ORPHA:199
HP:0008850	Severe postnatal growth retardation	8243	SMC1A	ORPHA:199
HP:0008850	Severe postnatal growth retardation	6878	TAF6	ORPHA:199
HP:0008850	Severe postnatal growth retardation	25836	NIPBL	ORPHA:199
HP:0008850	Severe postnatal growth retardation	55869	HDAC8	ORPHA:199
HP:0008850	Severe postnatal growth retardation	5885	RAD21	ORPHA:199
HP:0008850	Severe postnatal growth retardation	3479	IGF1	ORPHA:73272
HP:0008850	Severe postnatal growth retardation	6775	STAT4	ORPHA:85410
HP:0008850	Severe postnatal growth retardation	3560	IL2RB	ORPHA:85410
HP:0008850	Severe postnatal growth retardation	79722	ANKRD55	ORPHA:85410
HP:0008850	Severe postnatal growth retardation	26191	PTPN22	ORPHA:85410
HP:0008850	Severe postnatal growth retardation	919	CD247	ORPHA:85410
HP:0008850	Severe postnatal growth retardation	3559	IL2RA	ORPHA:85410
HP:0008850	Severe postnatal growth retardation	5771	PTPN2	ORPHA:85410
HP:0008850	Severe postnatal growth retardation	2625	GATA3	ORPHA:2237
HP:0008850	Severe postnatal growth retardation	100151683	RNU4ATAC	OMIM:210710
HP:0008850	Severe postnatal growth retardation	89884	LHX4	OMIM:262700
HP:0008850	Severe postnatal growth retardation	5449	POU1F1	OMIM:613038
HP:0008850	Severe postnatal growth retardation	5557	PRIM1	OMIM:620005
HP:0008850	Severe postnatal growth retardation	6261	RYR1	ORPHA:98905
HP:0008850	Severe postnatal growth retardation	3643	INSR	ORPHA:769
HP:0008850	Severe postnatal growth retardation	51199	NIN	ORPHA:319675
HP:0008850	Severe postnatal growth retardation	641	BLM	ORPHA:125
HP:0008850	Severe postnatal growth retardation	6134	RPL10	ORPHA:435938
HP:0008850	Severe postnatal growth retardation	7466	WFS1	ORPHA:411590
HP:0008850	Severe postnatal growth retardation	10436	EMG1	ORPHA:1270
HP:0008850	Severe postnatal growth retardation	10682	EBP	ORPHA:35173
HP:0008850	Severe postnatal growth retardation	128637	TBC1D20	OMIM:615663
HP:0008850	Severe postnatal growth retardation	23729	SHPK	ORPHA:440713
HP:0008850	Severe postnatal growth retardation	7468	NSD2	OMIM:194190
HP:0008850	Severe postnatal growth retardation	10815	CPLX1	OMIM:194190
HP:0008850	Severe postnatal growth retardation	1487	CTBP1	OMIM:194190
HP:0008850	Severe postnatal growth retardation	53834	FGFRL1	OMIM:194190
HP:0008850	Severe postnatal growth retardation	3954	LETM1	OMIM:194190
HP:0008850	Severe postnatal growth retardation	93587	TRMT10A	ORPHA:391408
HP:0008850	Severe postnatal growth retardation	84919	PPP1R15B	ORPHA:391408
HP:0008850	Severe postnatal growth retardation	1161	ERCC8	OMIM:216400
HP:0008850	Severe postnatal growth retardation	79158	GNPTAB	OMIM:252500
HP:0008850	Severe postnatal growth retardation	7252	TSHB	OMIM:275100
HP:0001508	Failure to thrive	1718	DHCR24	OMIM:602398
HP:0001508	Failure to thrive	1718	DHCR24	ORPHA:35107
HP:0001508	Failure to thrive	3651	PDX1	OMIM:260370
HP:0001508	Failure to thrive	3651	PDX1	ORPHA:99885
HP:0001508	Failure to thrive	4524	MTHFR	ORPHA:395
HP:0001508	Failure to thrive	6555	SLC10A2	OMIM:613291
HP:0001508	Failure to thrive	7428	VHL	OMIM:263400
HP:0001508	Failure to thrive	26235	FBXL4	OMIM:615471
HP:0001508	Failure to thrive	340533	NEXMIF	OMIM:300912
HP:0001508	Failure to thrive	5993	RFX5	OMIM:620816
HP:0001508	Failure to thrive	5993	RFX5	ORPHA:572
HP:0001508	Failure to thrive	5994	RFXAP	OMIM:620817
HP:0001508	Failure to thrive	5994	RFXAP	ORPHA:572
HP:0001508	Failure to thrive	5913	RAPSN	OMIM:616326
HP:0001508	Failure to thrive	79827	CLMP	OMIM:615237
HP:0001508	Failure to thrive	10059	DNM1L	OMIM:614388
HP:0001508	Failure to thrive	5238	PGM3	ORPHA:443811
HP:0001508	Failure to thrive	5238	PGM3	OMIM:615816
HP:0001508	Failure to thrive	4897	NRCAM	OMIM:619833
HP:0001508	Failure to thrive	84334	COA8	ORPHA:436271
HP:0001508	Failure to thrive	1131	CHRM3	ORPHA:2970
HP:0001508	Failure to thrive	51	ACOX1	ORPHA:2971
HP:0001508	Failure to thrive	3909	LAMA3	ORPHA:79404
HP:0001508	Failure to thrive	3909	LAMA3	OMIM:226700
HP:0001508	Failure to thrive	3918	LAMC2	ORPHA:79404
HP:0001508	Failure to thrive	3918	LAMC2	OMIM:226700
HP:0001508	Failure to thrive	3914	LAMB3	ORPHA:79404
HP:0001508	Failure to thrive	3914	LAMB3	OMIM:226700
HP:0001508	Failure to thrive	4552	MTRR	OMIM:236270
HP:0001508	Failure to thrive	4552	MTRR	ORPHA:2169
HP:0001508	Failure to thrive	197131	UBR1	OMIM:243800
HP:0001508	Failure to thrive	197131	UBR1	ORPHA:2315
HP:0001508	Failure to thrive	3481	IGF2	ORPHA:231144
HP:0001508	Failure to thrive	283120	H19	ORPHA:231144
HP:0001508	Failure to thrive	80816	ASXL3	OMIM:615485
HP:0001508	Failure to thrive	4141	MARS1	OMIM:615486
HP:0001508	Failure to thrive	5651	TMPRSS15	OMIM:226200
HP:0001508	Failure to thrive	27245	AHDC1	ORPHA:412069
HP:0001508	Failure to thrive	27245	AHDC1	OMIM:615829
HP:0001508	Failure to thrive	2137	EXTL3	OMIM:617425
HP:0001508	Failure to thrive	166378	AFG2A	OMIM:616577
HP:0001508	Failure to thrive	5184	PEPD	OMIM:170100
HP:0001508	Failure to thrive	84466	MEGF10	OMIM:614399
HP:0001508	Failure to thrive	10686	CLDN16	OMIM:248250
HP:0001508	Failure to thrive	16	AARS1	OMIM:616339
HP:0001508	Failure to thrive	16	AARS1	ORPHA:442835
HP:0001508	Failure to thrive	3716	JAK1	OMIM:618999
HP:0001508	Failure to thrive	3508	IGHMBP2	OMIM:604320
HP:0001508	Failure to thrive	55768	NGLY1	ORPHA:404454
HP:0001508	Failure to thrive	1161	ERCC8	OMIM:216400
HP:0001508	Failure to thrive	1161	ERCC8	ORPHA:90321
HP:0001508	Failure to thrive	79158	GNPTAB	OMIM:252500
HP:0001508	Failure to thrive	79158	GNPTAB	OMIM:252600
HP:0001508	Failure to thrive	7252	TSHB	ORPHA:90674
HP:0001508	Failure to thrive	29957	SLC25A24	ORPHA:2963
HP:0001508	Failure to thrive	29957	SLC25A24	OMIM:612289
HP:0001508	Failure to thrive	2188	FANCF	OMIM:603467
HP:0001508	Failure to thrive	284403	WDR62	OMIM:604317
HP:0001508	Failure to thrive	8029	CUBN	ORPHA:35858
HP:0001508	Failure to thrive	81693	AMN	ORPHA:35858
HP:0001508	Failure to thrive	1080	CFTR	OMIM:219700
HP:0001508	Failure to thrive	1080	CFTR	ORPHA:586
HP:0001508	Failure to thrive	2212	FCGR2A	OMIM:219700
HP:0001508	Failure to thrive	7040	TGFB1	OMIM:219700
HP:0001508	Failure to thrive	7040	TGFB1	ORPHA:586
HP:0001508	Failure to thrive	7040	TGFB1	OMIM:618213
HP:0001508	Failure to thrive	6023	RMRP	ORPHA:175
HP:0001508	Failure to thrive	6023	RMRP	ORPHA:39041
HP:0001508	Failure to thrive	3190	HNRNPK	OMIM:616580
HP:0001508	Failure to thrive	657	BMPR1A	OMIM:174900
HP:0001508	Failure to thrive	4089	SMAD4	OMIM:174900
HP:0001508	Failure to thrive	1777	DNASE2	OMIM:619858
HP:0001508	Failure to thrive	1716	DGUOK	OMIM:251880
HP:0001508	Failure to thrive	857	CAV1	OMIM:606721
HP:0001508	Failure to thrive	857	CAV1	ORPHA:528
HP:0001508	Failure to thrive	1594	CYP27B1	OMIM:264700
HP:0001508	Failure to thrive	1594	CYP27B1	ORPHA:289157
HP:0001508	Failure to thrive	64121	RRAGC	OMIM:620609
HP:0001508	Failure to thrive	9997	SCO2	OMIM:608908
HP:0001508	Failure to thrive	9997	SCO2	OMIM:604377
HP:0001508	Failure to thrive	23327	NEDD4L	OMIM:617201
HP:0001508	Failure to thrive	5073	PARN	OMIM:616353
HP:0001508	Failure to thrive	5073	PARN	ORPHA:3322
HP:0001508	Failure to thrive	8550	MAPKAPK5	OMIM:619869
HP:0001508	Failure to thrive	28514	DLL1	ORPHA:93926
HP:0001508	Failure to thrive	28514	DLL1	ORPHA:93924
HP:0001508	Failure to thrive	28514	DLL1	ORPHA:93925
HP:0001508	Failure to thrive	28514	DLL1	ORPHA:220386
HP:0001508	Failure to thrive	2253	FGF8	ORPHA:93926
HP:0001508	Failure to thrive	2253	FGF8	ORPHA:93924
HP:0001508	Failure to thrive	2253	FGF8	ORPHA:93925
HP:0001508	Failure to thrive	2253	FGF8	ORPHA:220386
HP:0001508	Failure to thrive	6496	SIX3	ORPHA:93926
HP:0001508	Failure to thrive	6496	SIX3	ORPHA:93924
HP:0001508	Failure to thrive	6496	SIX3	ORPHA:93925
HP:0001508	Failure to thrive	6496	SIX3	ORPHA:220386
HP:0001508	Failure to thrive	7050	TGIF1	ORPHA:93926
HP:0001508	Failure to thrive	7050	TGIF1	ORPHA:93924
HP:0001508	Failure to thrive	7050	TGIF1	ORPHA:93925
HP:0001508	Failure to thrive	7050	TGIF1	ORPHA:220386
HP:0001508	Failure to thrive	4838	NODAL	ORPHA:93926
HP:0001508	Failure to thrive	4838	NODAL	ORPHA:93924
HP:0001508	Failure to thrive	4838	NODAL	ORPHA:93925
HP:0001508	Failure to thrive	4838	NODAL	ORPHA:220386
HP:0001508	Failure to thrive	6469	SHH	ORPHA:93926
HP:0001508	Failure to thrive	6469	SHH	ORPHA:93924
HP:0001508	Failure to thrive	6469	SHH	ORPHA:93925
HP:0001508	Failure to thrive	6469	SHH	ORPHA:220386
HP:0001508	Failure to thrive	7546	ZIC2	ORPHA:93926
HP:0001508	Failure to thrive	7546	ZIC2	ORPHA:93924
HP:0001508	Failure to thrive	7546	ZIC2	ORPHA:93925
HP:0001508	Failure to thrive	7546	ZIC2	ORPHA:220386
HP:0001508	Failure to thrive	6491	STIL	ORPHA:93926
HP:0001508	Failure to thrive	6491	STIL	ORPHA:93924
HP:0001508	Failure to thrive	6491	STIL	ORPHA:93925
HP:0001508	Failure to thrive	6491	STIL	ORPHA:220386
HP:0001508	Failure to thrive	2619	GAS1	ORPHA:93926
HP:0001508	Failure to thrive	2619	GAS1	ORPHA:93924
HP:0001508	Failure to thrive	2619	GAS1	ORPHA:93925
HP:0001508	Failure to thrive	2619	GAS1	ORPHA:220386
HP:0001508	Failure to thrive	84976	DISP1	ORPHA:93926
HP:0001508	Failure to thrive	84976	DISP1	ORPHA:93924
HP:0001508	Failure to thrive	84976	DISP1	ORPHA:93925
HP:0001508	Failure to thrive	84976	DISP1	ORPHA:220386
HP:0001508	Failure to thrive	2736	GLI2	ORPHA:93926
HP:0001508	Failure to thrive	2736	GLI2	ORPHA:93924
HP:0001508	Failure to thrive	2736	GLI2	ORPHA:93925
HP:0001508	Failure to thrive	2736	GLI2	ORPHA:220386
HP:0001508	Failure to thrive	8928	FOXH1	ORPHA:93926
HP:0001508	Failure to thrive	8928	FOXH1	ORPHA:93924
HP:0001508	Failure to thrive	8928	FOXH1	ORPHA:93925
HP:0001508	Failure to thrive	8928	FOXH1	ORPHA:220386
HP:0001508	Failure to thrive	6997	CRIPTO	ORPHA:93926
HP:0001508	Failure to thrive	6997	CRIPTO	ORPHA:93924
HP:0001508	Failure to thrive	6997	CRIPTO	ORPHA:93925
HP:0001508	Failure to thrive	6997	CRIPTO	ORPHA:220386
HP:0001508	Failure to thrive	5727	PTCH1	ORPHA:93926
HP:0001508	Failure to thrive	5727	PTCH1	ORPHA:93924
HP:0001508	Failure to thrive	5727	PTCH1	ORPHA:93925
HP:0001508	Failure to thrive	5727	PTCH1	ORPHA:220386
HP:0001508	Failure to thrive	50937	CDON	ORPHA:93926
HP:0001508	Failure to thrive	50937	CDON	ORPHA:93924
HP:0001508	Failure to thrive	50937	CDON	ORPHA:93925
HP:0001508	Failure to thrive	50937	CDON	ORPHA:95496
HP:0001508	Failure to thrive	50937	CDON	ORPHA:220386
HP:0001508	Failure to thrive	10125	RASGRP1	OMIM:618534
HP:0001508	Failure to thrive	2260	FGFR1	ORPHA:93924
HP:0001508	Failure to thrive	2260	FGFR1	OMIM:166250
HP:0001508	Failure to thrive	2260	FGFR1	ORPHA:220386
HP:0001508	Failure to thrive	23007	PLCH1	ORPHA:93925
HP:0001508	Failure to thrive	10735	STAG2	ORPHA:93925
HP:0001508	Failure to thrive	10735	STAG2	OMIM:301022
HP:0001508	Failure to thrive	10735	STAG2	ORPHA:220386
HP:0001508	Failure to thrive	89910	UBE3B	ORPHA:2707
HP:0001508	Failure to thrive	89910	UBE3B	OMIM:244450
HP:0001508	Failure to thrive	4645	MYO5B	OMIM:619868
HP:0001508	Failure to thrive	4929	NR4A2	ORPHA:1617
HP:0001508	Failure to thrive	10716	TBR1	ORPHA:1617
HP:0001508	Failure to thrive	26040	SETBP1	OMIM:269150
HP:0001508	Failure to thrive	26834	RNU4-2	OMIM:620851
HP:0001508	Failure to thrive	4247	MGAT2	OMIM:212066
HP:0001508	Failure to thrive	4247	MGAT2	ORPHA:79329
HP:0001508	Failure to thrive	5373	PMM2	OMIM:212065
HP:0001508	Failure to thrive	5373	PMM2	ORPHA:79318
HP:0001508	Failure to thrive	63901	FAM111A	OMIM:602361
HP:0001508	Failure to thrive	2316	FLNA	ORPHA:90652
HP:0001508	Failure to thrive	2316	FLNA	OMIM:309350
HP:0001508	Failure to thrive	26154	ABCA12	OMIM:242500
HP:0001508	Failure to thrive	26154	ABCA12	ORPHA:79394
HP:0001508	Failure to thrive	11285	B4GALT7	OMIM:130070
HP:0001508	Failure to thrive	1187	CLCNKA	OMIM:613090
HP:0001508	Failure to thrive	1187	CLCNKA	ORPHA:89938
HP:0001508	Failure to thrive	1188	CLCNKB	OMIM:613090
HP:0001508	Failure to thrive	1188	CLCNKB	ORPHA:358
HP:0001508	Failure to thrive	1188	CLCNKB	ORPHA:89938
HP:0001508	Failure to thrive	23126	POGZ	OMIM:616364
HP:0001508	Failure to thrive	120227	CYP2R1	ORPHA:289157
HP:0001508	Failure to thrive	120227	CYP2R1	OMIM:600081
HP:0001508	Failure to thrive	51633	OTUD6B	OMIM:617452
HP:0001508	Failure to thrive	51633	OTUD6B	ORPHA:505237
HP:0001508	Failure to thrive	4261	CIITA	OMIM:209920
HP:0001508	Failure to thrive	4261	CIITA	ORPHA:572
HP:0001508	Failure to thrive	5604	MAP2K1	OMIM:615279
HP:0001508	Failure to thrive	92609	TIMM50	OMIM:617698
HP:0001508	Failure to thrive	92609	TIMM50	ORPHA:505216
HP:0001508	Failure to thrive	51692	CPSF3	OMIM:619876
HP:0001508	Failure to thrive	5590	PRKCZ	ORPHA:1606
HP:0001508	Failure to thrive	2563	GABRD	ORPHA:1606
HP:0001508	Failure to thrive	23013	SPEN	ORPHA:1606
HP:0001508	Failure to thrive	8510	MMP23B	ORPHA:1606
HP:0001508	Failure to thrive	7798	LUZP1	ORPHA:1606
HP:0001508	Failure to thrive	6497	SKI	ORPHA:1606
HP:0001508	Failure to thrive	6497	SKI	ORPHA:2462
HP:0001508	Failure to thrive	10630	PDPN	ORPHA:1606
HP:0001508	Failure to thrive	3339	HSPG2	ORPHA:1606
HP:0001508	Failure to thrive	10277	UBE4B	ORPHA:1606
HP:0001508	Failure to thrive	8514	KCNAB2	ORPHA:1606
HP:0001508	Failure to thrive	473	RERE	ORPHA:1606
HP:0001508	Failure to thrive	63976	PRDM16	ORPHA:1606
HP:0001508	Failure to thrive	54897	CASZ1	ORPHA:1606
HP:0001508	Failure to thrive	1859	DYRK1A	ORPHA:464311
HP:0001508	Failure to thrive	2517	FUCA1	ORPHA:349
HP:0001508	Failure to thrive	2517	FUCA1	OMIM:230000
HP:0001508	Failure to thrive	472	ATM	ORPHA:100
HP:0001508	Failure to thrive	472	ATM	OMIM:208900
HP:0001508	Failure to thrive	3507	IGHM	OMIM:601495
HP:0001508	Failure to thrive	3507	IGHM	ORPHA:33110
HP:0001508	Failure to thrive	79718	TBL1XR1	OMIM:602342
HP:0001508	Failure to thrive	6804	STX1A	ORPHA:586
HP:0001508	Failure to thrive	2947	GSTM3	ORPHA:586
HP:0001508	Failure to thrive	2729	GCLC	ORPHA:586
HP:0001508	Failure to thrive	1084	CEACAM3	ORPHA:586
HP:0001508	Failure to thrive	6556	SLC11A1	ORPHA:586
HP:0001508	Failure to thrive	51164	DCTN4	ORPHA:586
HP:0001508	Failure to thrive	3783	KCNN4	ORPHA:586
HP:0001508	Failure to thrive	4282	MIF	ORPHA:586
HP:0001508	Failure to thrive	1909	EDNRA	ORPHA:586
HP:0001508	Failure to thrive	6550	SLC9A3	ORPHA:586
HP:0001508	Failure to thrive	3162	HMOX1	ORPHA:586
HP:0001508	Failure to thrive	115019	SLC26A9	ORPHA:586
HP:0001508	Failure to thrive	3077	HFE	ORPHA:586
HP:0001508	Failure to thrive	11254	SLC6A14	ORPHA:586
HP:0001508	Failure to thrive	5265	SERPINA1	ORPHA:586
HP:0001508	Failure to thrive	22802	CLCA4	ORPHA:586
HP:0001508	Failure to thrive	4680	CEACAM6	ORPHA:586
HP:0001508	Failure to thrive	57169	ZNFX1	OMIM:619644
HP:0001508	Failure to thrive	2232	FDXR	ORPHA:543470
HP:0001508	Failure to thrive	11311	VPS45	OMIM:615285
HP:0001508	Failure to thrive	113179	ADAT3	OMIM:615286
HP:0001508	Failure to thrive	113179	ADAT3	ORPHA:363528
HP:0001508	Failure to thrive	50485	SMARCAL1	ORPHA:1830
HP:0001508	Failure to thrive	4285	MIPEP	OMIM:617228
HP:0001508	Failure to thrive	6901	TAFAZZIN	OMIM:302060
HP:0001508	Failure to thrive	90	ACVR1	ORPHA:337
HP:0001508	Failure to thrive	4351	MPI	OMIM:602579
HP:0001508	Failure to thrive	4351	MPI	ORPHA:79319
HP:0001508	Failure to thrive	5354	PLP1	OMIM:312080
HP:0001508	Failure to thrive	5354	PLP1	ORPHA:280210
HP:0001508	Failure to thrive	6603	SMARCD2	OMIM:617475
HP:0001508	Failure to thrive	111	ADCY5	OMIM:619651
HP:0001508	Failure to thrive	125988	MICOS13	OMIM:618329
HP:0001508	Failure to thrive	8565	YARS1	OMIM:619418
HP:0001508	Failure to thrive	54148	MRPL39	OMIM:620646
HP:0001508	Failure to thrive	4087	SMAD2	OMIM:619657
HP:0001508	Failure to thrive	1585	CYP11B2	OMIM:610600
HP:0001508	Failure to thrive	1585	CYP11B2	OMIM:203400
HP:0001508	Failure to thrive	1585	CYP11B2	ORPHA:556030
HP:0001508	Failure to thrive	4733	DRG1	OMIM:620641
HP:0001508	Failure to thrive	2184	FAH	OMIM:276700
HP:0001508	Failure to thrive	5836	PYGL	ORPHA:369
HP:0001508	Failure to thrive	56246	MRAP	ORPHA:361
HP:0001508	Failure to thrive	6770	STAR	ORPHA:361
HP:0001508	Failure to thrive	4158	MC2R	ORPHA:361
HP:0001508	Failure to thrive	4158	MC2R	OMIM:202200
HP:0001508	Failure to thrive	23530	NNT	ORPHA:361
HP:0001508	Failure to thrive	23530	NNT	OMIM:614736
HP:0001508	Failure to thrive	10587	TXNRD2	ORPHA:361
HP:0001508	Failure to thrive	91252	SLC39A13	ORPHA:157965
HP:0001508	Failure to thrive	404672	GTF2H5	OMIM:616395
HP:0001508	Failure to thrive	25970	SH2B1	ORPHA:261197
HP:0001508	Failure to thrive	9742	IFT140	OMIM:266920
HP:0001508	Failure to thrive	205327	C2orf69	OMIM:619423
HP:0001508	Failure to thrive	171546	SPTSSA	OMIM:620416
HP:0001508	Failure to thrive	171546	SPTSSA	OMIM:620417
HP:0001508	Failure to thrive	27429	HTRA2	OMIM:617248
HP:0001508	Failure to thrive	6559	SLC12A3	ORPHA:358
HP:0001508	Failure to thrive	6559	SLC12A3	OMIM:263800
HP:0001508	Failure to thrive	389827	MYMK	OMIM:254940
HP:0001508	Failure to thrive	3479	IGF1	ORPHA:73272
HP:0001508	Failure to thrive	291	SLC25A4	ORPHA:254892
HP:0001508	Failure to thrive	5428	POLG	ORPHA:254892
HP:0001508	Failure to thrive	5428	POLG	OMIM:203700
HP:0001508	Failure to thrive	56652	TWNK	ORPHA:254892
HP:0001508	Failure to thrive	11232	POLG2	ORPHA:254892
HP:0001508	Failure to thrive	11232	POLG2	OMIM:610131
HP:0001508	Failure to thrive	50484	RRM2B	ORPHA:254892
HP:0001508	Failure to thrive	50484	RRM2B	OMIM:612075
HP:0001508	Failure to thrive	2074	ERCC6	OMIM:133540
HP:0001508	Failure to thrive	2074	ERCC6	ORPHA:90321
HP:0001508	Failure to thrive	2074	ERCC6	OMIM:214150
HP:0001508	Failure to thrive	57190	SELENON	ORPHA:324604
HP:0001508	Failure to thrive	57190	SELENON	OMIM:602771
HP:0001508	Failure to thrive	57190	SELENON	ORPHA:2020
HP:0001508	Failure to thrive	4625	MYH7	ORPHA:324604
HP:0001508	Failure to thrive	7273	TTN	ORPHA:324604
HP:0001508	Failure to thrive	9488	PIGB	OMIM:618580
HP:0001508	Failure to thrive	4558	MT-TF	ORPHA:550
HP:0001508	Failure to thrive	4572	MT-TQ	ORPHA:550
HP:0001508	Failure to thrive	4512	MT-CO1	ORPHA:550
HP:0001508	Failure to thrive	4513	MT-CO2	ORPHA:550
HP:0001508	Failure to thrive	4514	MT-CO3	ORPHA:550
HP:0001508	Failure to thrive	4578	MT-TW	ORPHA:550
HP:0001508	Failure to thrive	4578	MT-TW	ORPHA:255210
HP:0001508	Failure to thrive	4540	MT-ND5	ORPHA:550
HP:0001508	Failure to thrive	4540	MT-ND5	ORPHA:255210
HP:0001508	Failure to thrive	4541	MT-ND6	ORPHA:550
HP:0001508	Failure to thrive	4541	MT-ND6	ORPHA:255210
HP:0001508	Failure to thrive	4535	MT-ND1	ORPHA:550
HP:0001508	Failure to thrive	4535	MT-ND1	ORPHA:2609
HP:0001508	Failure to thrive	4535	MT-ND1	ORPHA:255210
HP:0001508	Failure to thrive	4538	MT-ND4	ORPHA:550
HP:0001508	Failure to thrive	4538	MT-ND4	ORPHA:255210
HP:0001508	Failure to thrive	4567	MT-TL1	ORPHA:550
HP:0001508	Failure to thrive	4567	MT-TL1	ORPHA:255210
HP:0001508	Failure to thrive	4567	MT-TL1	ORPHA:324525
HP:0001508	Failure to thrive	4574	MT-TS1	ORPHA:550
HP:0001508	Failure to thrive	4574	MT-TS1	OMIM:220110
HP:0001508	Failure to thrive	4575	MT-TS2	ORPHA:550
HP:0001508	Failure to thrive	4564	MT-TH	ORPHA:550
HP:0001508	Failure to thrive	1291	COL6A1	OMIM:254090
HP:0001508	Failure to thrive	10785	WDR4	OMIM:618346
HP:0001508	Failure to thrive	10564	ARFGEF2	OMIM:608097
HP:0001508	Failure to thrive	2495	FTH1	OMIM:620669
HP:0001508	Failure to thrive	92335	STRADA	ORPHA:500533
HP:0001508	Failure to thrive	3659	IRF1	OMIM:620668
HP:0001508	Failure to thrive	51259	TMEM216	OMIM:608091
HP:0001508	Failure to thrive	51259	TMEM216	ORPHA:2754
HP:0001508	Failure to thrive	9526	MPDU1	OMIM:609180
HP:0001508	Failure to thrive	8737	RIPK1	OMIM:618108
HP:0001508	Failure to thrive	253738	EBF3	ORPHA:96148
HP:0001508	Failure to thrive	79813	EHMT1	ORPHA:96147
HP:0001508	Failure to thrive	79813	EHMT1	ORPHA:261652
HP:0001508	Failure to thrive	959	CD40LG	OMIM:308230
HP:0001508	Failure to thrive	55630	SLC39A4	ORPHA:37
HP:0001508	Failure to thrive	55630	SLC39A4	OMIM:201100
HP:0001508	Failure to thrive	10165	SLC25A13	OMIM:605814
HP:0001508	Failure to thrive	8540	AGPS	OMIM:600121
HP:0001508	Failure to thrive	5896	RAG1	OMIM:601457
HP:0001508	Failure to thrive	5896	RAG1	ORPHA:331206
HP:0001508	Failure to thrive	5896	RAG1	OMIM:603554
HP:0001508	Failure to thrive	5896	RAG1	ORPHA:39041
HP:0001508	Failure to thrive	5897	RAG2	OMIM:601457
HP:0001508	Failure to thrive	5897	RAG2	ORPHA:331206
HP:0001508	Failure to thrive	5897	RAG2	OMIM:603554
HP:0001508	Failure to thrive	5897	RAG2	ORPHA:39041
HP:0001508	Failure to thrive	2972	BRF1	ORPHA:444072
HP:0001508	Failure to thrive	3712	IVD	ORPHA:33
HP:0001508	Failure to thrive	29887	SNX10	OMIM:615085
HP:0001508	Failure to thrive	23114	NFASC	OMIM:618356
HP:0001508	Failure to thrive	1294	COL7A1	ORPHA:89842
HP:0001508	Failure to thrive	6492	SIM1	ORPHA:398079
HP:0001508	Failure to thrive	112939	NACC1	ORPHA:500545
HP:0001508	Failure to thrive	112939	NACC1	OMIM:617393
HP:0001508	Failure to thrive	4952	OCRL	ORPHA:534
HP:0001508	Failure to thrive	4952	OCRL	OMIM:309000
HP:0001508	Failure to thrive	3767	KCNJ11	ORPHA:99885
HP:0001508	Failure to thrive	3767	KCNJ11	ORPHA:99886
HP:0001508	Failure to thrive	6774	STAT3	ORPHA:99885
HP:0001508	Failure to thrive	2645	GCK	ORPHA:99885
HP:0001508	Failure to thrive	6833	ABCC8	ORPHA:99885
HP:0001508	Failure to thrive	6833	ABCC8	ORPHA:99886
HP:0001508	Failure to thrive	3630	INS	ORPHA:99885
HP:0001508	Failure to thrive	346171	ZFP57	ORPHA:99886
HP:0001508	Failure to thrive	57061	HYMAI	ORPHA:99886
HP:0001508	Failure to thrive	5325	PLAGL1	ORPHA:99886
HP:0001508	Failure to thrive	4204	MECP2	ORPHA:778
HP:0001508	Failure to thrive	4204	MECP2	OMIM:300673
HP:0001508	Failure to thrive	3417	IDH1	ORPHA:99646
HP:0001508	Failure to thrive	427	ASAH1	ORPHA:333
HP:0001508	Failure to thrive	427	ASAH1	OMIM:228000
HP:0001508	Failure to thrive	4784	NFIX	OMIM:602535
HP:0001508	Failure to thrive	4784	NFIX	ORPHA:561
HP:0001508	Failure to thrive	8625	RFXANK	ORPHA:572
HP:0001508	Failure to thrive	8625	RFXANK	OMIM:620815
HP:0001508	Failure to thrive	3039	HBA1	ORPHA:98791
HP:0001508	Failure to thrive	3040	HBA2	ORPHA:98791
HP:0001508	Failure to thrive	3861	KRT14	ORPHA:89838
HP:0001508	Failure to thrive	3861	KRT14	ORPHA:79396
HP:0001508	Failure to thrive	6777	STAT5B	OMIM:245590
HP:0001508	Failure to thrive	22930	RAB3GAP1	OMIM:600118
HP:0001508	Failure to thrive	537	ATP6AP1	OMIM:300972
HP:0001508	Failure to thrive	4998	ORC1	OMIM:224690
HP:0001508	Failure to thrive	4998	ORC1	ORPHA:2554
HP:0001508	Failure to thrive	7922	SLC39A7	OMIM:619693
HP:0001508	Failure to thrive	7922	SLC39A7	ORPHA:33110
HP:0001508	Failure to thrive	6601	SMARCC2	OMIM:618362
HP:0001508	Failure to thrive	7468	NSD2	OMIM:619695
HP:0001508	Failure to thrive	7468	NSD2	OMIM:194190
HP:0001508	Failure to thrive	7468	NSD2	ORPHA:280
HP:0001508	Failure to thrive	3643	INSR	OMIM:246200
HP:0001508	Failure to thrive	3643	INSR	ORPHA:508
HP:0001508	Failure to thrive	6718	AKR1D1	OMIM:235555
HP:0001508	Failure to thrive	6718	AKR1D1	ORPHA:79303
HP:0001508	Failure to thrive	54551	MAGEL2	ORPHA:398069
HP:0001508	Failure to thrive	54551	MAGEL2	ORPHA:98754
HP:0001508	Failure to thrive	54551	MAGEL2	ORPHA:177904
HP:0001508	Failure to thrive	54551	MAGEL2	ORPHA:177901
HP:0001508	Failure to thrive	3054	HCFC1	OMIM:309541
HP:0001508	Failure to thrive	201163	FLCN	OMIM:610883
HP:0001508	Failure to thrive	2019	EN1	OMIM:619218
HP:0001508	Failure to thrive	549	AUH	OMIM:250950
HP:0001508	Failure to thrive	549	AUH	ORPHA:67046
HP:0001508	Failure to thrive	1312	COMT	ORPHA:567
HP:0001508	Failure to thrive	221037	JMJD1C	ORPHA:567
HP:0001508	Failure to thrive	2812	GP1BB	ORPHA:567
HP:0001508	Failure to thrive	6239	RREB1	ORPHA:567
HP:0001508	Failure to thrive	6899	TBX1	ORPHA:567
HP:0001508	Failure to thrive	7290	HIRA	ORPHA:567
HP:0001508	Failure to thrive	9632	SEC24C	ORPHA:567
HP:0001508	Failure to thrive	7353	UFD1	ORPHA:567
HP:0001508	Failure to thrive	421	ARVCF	ORPHA:567
HP:0001508	Failure to thrive	3291	HSD11B2	ORPHA:320
HP:0001508	Failure to thrive	3291	HSD11B2	OMIM:218030
HP:0001508	Failure to thrive	4547	MTTP	ORPHA:14
HP:0001508	Failure to thrive	7703	PCGF2	OMIM:618371
HP:0001508	Failure to thrive	6045	RNF2	OMIM:619460
HP:0001508	Failure to thrive	51102	MECR	OMIM:617282
HP:0001508	Failure to thrive	51102	MECR	ORPHA:508093
HP:0001508	Failure to thrive	6557	SLC12A1	OMIM:601678
HP:0001508	Failure to thrive	7809	BSND	OMIM:602522
HP:0001508	Failure to thrive	7809	BSND	ORPHA:89938
HP:0001508	Failure to thrive	63931	MRPS14	OMIM:618378
HP:0001508	Failure to thrive	11342	RNF13	OMIM:618379
HP:0001508	Failure to thrive	11342	RNF13	ORPHA:544503
HP:0001508	Failure to thrive	127833	SYT2	OMIM:619461
HP:0001508	Failure to thrive	8802	SUCLG1	ORPHA:17
HP:0001508	Failure to thrive	8802	SUCLG1	OMIM:245400
HP:0001508	Failure to thrive	146206	CARMIL2	OMIM:618131
HP:0001508	Failure to thrive	3188	HNRNPH2	OMIM:300986
HP:0001508	Failure to thrive	84705	GTPBP3	OMIM:616198
HP:0001508	Failure to thrive	84705	GTPBP3	ORPHA:444013
HP:0001508	Failure to thrive	9971	NR1H4	OMIM:617049
HP:0001508	Failure to thrive	5332	PLCB4	OMIM:620458
HP:0001508	Failure to thrive	1974	EIF4A2	OMIM:620455
HP:0001508	Failure to thrive	4548	MTR	OMIM:250940
HP:0001508	Failure to thrive	65250	CPLANE1	OMIM:277170
HP:0001508	Failure to thrive	65250	CPLANE1	ORPHA:2754
HP:0001508	Failure to thrive	134218	DNAJC21	OMIM:617052
HP:0001508	Failure to thrive	134218	DNAJC21	ORPHA:811
HP:0001508	Failure to thrive	134218	DNAJC21	OMIM:260400
HP:0001508	Failure to thrive	10526	IPO8	OMIM:619472
HP:0001508	Failure to thrive	54539	NDUFB11	OMIM:300952
HP:0001508	Failure to thrive	54539	NDUFB11	ORPHA:2556
HP:0001508	Failure to thrive	54539	NDUFB11	ORPHA:2609
HP:0001508	Failure to thrive	6711	SPTBN1	OMIM:619475
HP:0001508	Failure to thrive	435	ASL	OMIM:207900
HP:0001508	Failure to thrive	8452	CUL3	OMIM:619239
HP:0001508	Failure to thrive	162417	NAGS	OMIM:237310
HP:0001508	Failure to thrive	162417	NAGS	ORPHA:927
HP:0001508	Failure to thrive	2887	GRB10	ORPHA:96182
HP:0001508	Failure to thrive	10682	EBP	OMIM:300960
HP:0001508	Failure to thrive	10682	EBP	ORPHA:401973
HP:0001508	Failure to thrive	10682	EBP	OMIM:302960
HP:0001508	Failure to thrive	1457	CSNK2A1	OMIM:617062
HP:0001508	Failure to thrive	100147744	RNU7-1	OMIM:619487
HP:0001508	Failure to thrive	374879	ZNF699	OMIM:619488
HP:0001508	Failure to thrive	200931	SLC51A	OMIM:619484
HP:0001508	Failure to thrive	9373	PLAA	ORPHA:521426
HP:0001508	Failure to thrive	9373	PLAA	OMIM:617527
HP:0001508	Failure to thrive	2998	GYS2	ORPHA:2089
HP:0001508	Failure to thrive	57038	RARS2	OMIM:611523
HP:0001508	Failure to thrive	6514	SLC2A2	ORPHA:2088
HP:0001508	Failure to thrive	6514	SLC2A2	OMIM:227810
HP:0001508	Failure to thrive	10551	AGR2	OMIM:620233
HP:0001508	Failure to thrive	3516	RBPJ	ORPHA:974
HP:0001508	Failure to thrive	4851	NOTCH1	ORPHA:974
HP:0001508	Failure to thrive	57514	ARHGAP31	ORPHA:974
HP:0001508	Failure to thrive	57572	DOCK6	ORPHA:974
HP:0001508	Failure to thrive	285203	EOGT	ORPHA:974
HP:0001508	Failure to thrive	54567	DLL4	ORPHA:974
HP:0001508	Failure to thrive	60386	SLC25A19	OMIM:607196
HP:0001508	Failure to thrive	55670	PEX26	ORPHA:772
HP:0001508	Failure to thrive	55670	PEX26	ORPHA:912
HP:0001508	Failure to thrive	5824	PEX19	ORPHA:772
HP:0001508	Failure to thrive	5824	PEX19	ORPHA:912
HP:0001508	Failure to thrive	5828	PEX2	ORPHA:772
HP:0001508	Failure to thrive	5828	PEX2	OMIM:614866
HP:0001508	Failure to thrive	5828	PEX2	ORPHA:912
HP:0001508	Failure to thrive	8504	PEX3	ORPHA:772
HP:0001508	Failure to thrive	8504	PEX3	ORPHA:912
HP:0001508	Failure to thrive	9409	PEX16	ORPHA:772
HP:0001508	Failure to thrive	9409	PEX16	OMIM:614877
HP:0001508	Failure to thrive	9409	PEX16	ORPHA:912
HP:0001508	Failure to thrive	5190	PEX6	ORPHA:772
HP:0001508	Failure to thrive	5190	PEX6	ORPHA:912
HP:0001508	Failure to thrive	8799	PEX11B	ORPHA:772
HP:0001508	Failure to thrive	8799	PEX11B	ORPHA:912
HP:0001508	Failure to thrive	5830	PEX5	ORPHA:772
HP:0001508	Failure to thrive	5830	PEX5	OMIM:214110
HP:0001508	Failure to thrive	5830	PEX5	ORPHA:912
HP:0001508	Failure to thrive	5189	PEX1	ORPHA:772
HP:0001508	Failure to thrive	5189	PEX1	OMIM:214100
HP:0001508	Failure to thrive	5189	PEX1	ORPHA:912
HP:0001508	Failure to thrive	5193	PEX12	ORPHA:772
HP:0001508	Failure to thrive	5193	PEX12	ORPHA:912
HP:0001508	Failure to thrive	5193	PEX12	OMIM:266510
HP:0001508	Failure to thrive	5194	PEX13	ORPHA:772
HP:0001508	Failure to thrive	5194	PEX13	OMIM:614883
HP:0001508	Failure to thrive	5194	PEX13	ORPHA:912
HP:0001508	Failure to thrive	5195	PEX14	ORPHA:772
HP:0001508	Failure to thrive	5195	PEX14	ORPHA:912
HP:0001508	Failure to thrive	5192	PEX10	ORPHA:772
HP:0001508	Failure to thrive	5192	PEX10	ORPHA:912
HP:0001508	Failure to thrive	201595	STT3B	ORPHA:370924
HP:0001508	Failure to thrive	201595	STT3B	OMIM:615597
HP:0001508	Failure to thrive	6748	SSR4	ORPHA:370927
HP:0001508	Failure to thrive	6748	SSR4	OMIM:300934
HP:0001508	Failure to thrive	5317	PKP1	ORPHA:158668
HP:0001508	Failure to thrive	7482	WNT2B	OMIM:618168
HP:0001508	Failure to thrive	10479	SLC9A6	ORPHA:85278
HP:0001508	Failure to thrive	63899	NSUN3	OMIM:619012
HP:0001508	Failure to thrive	203190	LGI3	OMIM:620007
HP:0001508	Failure to thrive	284058	KANSL1	OMIM:610443
HP:0001508	Failure to thrive	875	CBS	OMIM:236200
HP:0001508	Failure to thrive	84081	NSRP1	OMIM:620001
HP:0001508	Failure to thrive	5468	PPARG	ORPHA:528
HP:0001508	Failure to thrive	10555	AGPAT2	ORPHA:528
HP:0001508	Failure to thrive	284119	CAVIN1	ORPHA:528
HP:0001508	Failure to thrive	284119	CAVIN1	OMIM:613327
HP:0001508	Failure to thrive	26580	BSCL2	ORPHA:528
HP:0001508	Failure to thrive	2353	FOS	ORPHA:528
HP:0001508	Failure to thrive	10079	ATP9A	OMIM:620242
HP:0001508	Failure to thrive	2801	GOLGA2	OMIM:620240
HP:0001508	Failure to thrive	3030	HADHA	ORPHA:5
HP:0001508	Failure to thrive	3030	HADHA	OMIM:609015
HP:0001508	Failure to thrive	50617	ATP6V0A4	OMIM:602722
HP:0001508	Failure to thrive	116150	NUS1	OMIM:617082
HP:0001508	Failure to thrive	116150	NUS1	ORPHA:442835
HP:0001508	Failure to thrive	2629	GBA1	OMIM:230900
HP:0001508	Failure to thrive	2629	GBA1	ORPHA:85212
HP:0001508	Failure to thrive	118429	ANTXR2	OMIM:228600
HP:0001508	Failure to thrive	118429	ANTXR2	ORPHA:2176
HP:0001508	Failure to thrive	1373	CPS1	OMIM:237300
HP:0001508	Failure to thrive	5696	PSMB8	OMIM:256040
HP:0001508	Failure to thrive	25886	POC1A	OMIM:614813
HP:0001508	Failure to thrive	9898	UBAP2L	OMIM:620494
HP:0001508	Failure to thrive	128	ADH5	OMIM:619151
HP:0001508	Failure to thrive	64374	SIL1	OMIM:248800
HP:0001508	Failure to thrive	6399	TRAPPC2	ORPHA:93284
HP:0001508	Failure to thrive	6535	SLC6A8	OMIM:300352
HP:0001508	Failure to thrive	6309	SC5D	ORPHA:46059
HP:0001508	Failure to thrive	6775	STAT4	ORPHA:85410
HP:0001508	Failure to thrive	3560	IL2RB	ORPHA:85410
HP:0001508	Failure to thrive	3560	IL2RB	OMIM:618495
HP:0001508	Failure to thrive	79722	ANKRD55	ORPHA:85410
HP:0001508	Failure to thrive	26191	PTPN22	ORPHA:85410
HP:0001508	Failure to thrive	919	CD247	ORPHA:85410
HP:0001508	Failure to thrive	3559	IL2RA	ORPHA:85410
HP:0001508	Failure to thrive	5771	PTPN2	ORPHA:85410
HP:0001508	Failure to thrive	5393	EXOSC9	OMIM:618065
HP:0001508	Failure to thrive	5393	EXOSC9	ORPHA:2254
HP:0001508	Failure to thrive	10312	TCIRG1	OMIM:259700
HP:0001508	Failure to thrive	5009	OTC	OMIM:311250
HP:0001508	Failure to thrive	5009	OTC	ORPHA:664
HP:0001508	Failure to thrive	673	BRAF	OMIM:115150
HP:0001508	Failure to thrive	25821	MTO1	OMIM:614702
HP:0001508	Failure to thrive	987	LRBA	OMIM:614700
HP:0001508	Failure to thrive	51343	FZR1	OMIM:620145
HP:0001508	Failure to thrive	51343	FZR1	ORPHA:442835
HP:0001508	Failure to thrive	126792	B3GALT6	OMIM:609465
HP:0001508	Failure to thrive	80232	WDR26	ORPHA:513456
HP:0001508	Failure to thrive	80232	WDR26	OMIM:617616
HP:0001508	Failure to thrive	51506	UFC1	OMIM:618076
HP:0001508	Failure to thrive	63916	ELMO2	ORPHA:3019
HP:0001508	Failure to thrive	79947	DHDDS	OMIM:613861
HP:0001508	Failure to thrive	79947	DHDDS	ORPHA:442835
HP:0001508	Failure to thrive	841	CASP8	OMIM:607271
HP:0001508	Failure to thrive	55788	LMBRD1	OMIM:277380
HP:0001508	Failure to thrive	55788	LMBRD1	ORPHA:79284
HP:0001508	Failure to thrive	80055	PGAP1	OMIM:615802
HP:0001508	Failure to thrive	8456	FOXN1	ORPHA:83471
HP:0001508	Failure to thrive	6662	SOX9	OMIM:114290
HP:0001508	Failure to thrive	6662	SOX9	ORPHA:718
HP:0001508	Failure to thrive	29072	SETD2	OMIM:620157
HP:0001508	Failure to thrive	55780	ERMARD	ORPHA:75857
HP:0001508	Failure to thrive	5979	RET	ORPHA:99803
HP:0001508	Failure to thrive	429	ASCL1	ORPHA:99803
HP:0001508	Failure to thrive	8929	PHOX2B	ORPHA:99803
HP:0001508	Failure to thrive	3242	HPD	OMIM:140350
HP:0001508	Failure to thrive	3242	HPD	ORPHA:2118
HP:0001508	Failure to thrive	10225	CD96	OMIM:211750
HP:0001508	Failure to thrive	771	CA12	OMIM:143860
HP:0001508	Failure to thrive	79631	EFL1	ORPHA:811
HP:0001508	Failure to thrive	79631	EFL1	OMIM:617941
HP:0001508	Failure to thrive	51119	SBDS	ORPHA:811
HP:0001508	Failure to thrive	51119	SBDS	OMIM:260400
HP:0001508	Failure to thrive	3988	LIPA	OMIM:620151
HP:0001508	Failure to thrive	3988	LIPA	OMIM:278000
HP:0001508	Failure to thrive	9382	COG1	ORPHA:263508
HP:0001508	Failure to thrive	6439	SFTPB	OMIM:265120
HP:0001508	Failure to thrive	87178	PNPT1	ORPHA:319514
HP:0001508	Failure to thrive	1738	DLD	ORPHA:2394
HP:0001508	Failure to thrive	4001	LMNB1	OMIM:619179
HP:0001508	Failure to thrive	84876	ORAI1	OMIM:612782
HP:0001508	Failure to thrive	92579	G6PC3	OMIM:612541
HP:0001508	Failure to thrive	55858	TMEM165	OMIM:614727
HP:0001508	Failure to thrive	64087	MCCC2	OMIM:210210
HP:0001508	Failure to thrive	9839	ZEB2	ORPHA:261552
HP:0001508	Failure to thrive	9839	ZEB2	ORPHA:261537
HP:0001508	Failure to thrive	50674	NEUROG3	OMIM:610370
HP:0001508	Failure to thrive	6885	MAP3K7	OMIM:157800
HP:0001508	Failure to thrive	7170	TPM3	OMIM:255310
HP:0001508	Failure to thrive	7170	TPM3	ORPHA:2020
HP:0001508	Failure to thrive	1591	CYP24A1	OMIM:143880
HP:0001508	Failure to thrive	84342	COG8	ORPHA:95428
HP:0001508	Failure to thrive	84342	COG8	OMIM:611182
HP:0001508	Failure to thrive	23545	ATP6V0A2	OMIM:278250
HP:0001508	Failure to thrive	23545	ATP6V0A2	OMIM:219200
HP:0001508	Failure to thrive	23545	ATP6V0A2	ORPHA:2834
HP:0001508	Failure to thrive	23545	ATP6V0A2	ORPHA:357074
HP:0001508	Failure to thrive	84300	UQCC2	OMIM:615824
HP:0001508	Failure to thrive	4598	MVK	OMIM:610377
HP:0001508	Failure to thrive	56922	MCCC1	OMIM:210200
HP:0001508	Failure to thrive	113235	SLC46A1	OMIM:229050
HP:0001508	Failure to thrive	113235	SLC46A1	ORPHA:90045
HP:0001508	Failure to thrive	63894	VIPAS39	OMIM:613404
HP:0001508	Failure to thrive	79053	ALG8	OMIM:608104
HP:0001508	Failure to thrive	79053	ALG8	ORPHA:79325
HP:0001508	Failure to thrive	10815	CPLX1	OMIM:194190
HP:0001508	Failure to thrive	10815	CPLX1	ORPHA:280
HP:0001508	Failure to thrive	1487	CTBP1	OMIM:194190
HP:0001508	Failure to thrive	1487	CTBP1	ORPHA:280
HP:0001508	Failure to thrive	53834	FGFRL1	OMIM:194190
HP:0001508	Failure to thrive	3954	LETM1	OMIM:194190
HP:0001508	Failure to thrive	3954	LETM1	ORPHA:280
HP:0001508	Failure to thrive	84947	SERAC1	OMIM:614739
HP:0001508	Failure to thrive	1798	DPAGT1	ORPHA:86309
HP:0001508	Failure to thrive	6125	RPL5	OMIM:612561
HP:0001508	Failure to thrive	4519	MT-CYB	ORPHA:137675
HP:0001508	Failure to thrive	773	CACNA1A	ORPHA:2131
HP:0001508	Failure to thrive	773	CACNA1A	ORPHA:442835
HP:0001508	Failure to thrive	6507	SLC1A3	ORPHA:2131
HP:0001508	Failure to thrive	477	ATP1A2	ORPHA:2131
HP:0001508	Failure to thrive	477	ATP1A2	ORPHA:442835
HP:0001508	Failure to thrive	478	ATP1A3	ORPHA:2131
HP:0001508	Failure to thrive	478	ATP1A3	ORPHA:442835
HP:0001508	Failure to thrive	90624	LYRM7	OMIM:615838
HP:0001508	Failure to thrive	1650	DDOST	OMIM:614507
HP:0001508	Failure to thrive	1650	DDOST	ORPHA:300536
HP:0001508	Failure to thrive	10056	FARSB	OMIM:613658
HP:0001508	Failure to thrive	128674	PROKR2	ORPHA:95496
HP:0001508	Failure to thrive	89884	LHX4	ORPHA:95496
HP:0001508	Failure to thrive	55717	WDR11	ORPHA:95496
HP:0001508	Failure to thrive	6091	ROBO1	ORPHA:95496
HP:0001508	Failure to thrive	8820	HESX1	ORPHA:95496
HP:0001508	Failure to thrive	23432	GPR161	ORPHA:95496
HP:0001508	Failure to thrive	11128	POLR3A	OMIM:264090
HP:0001508	Failure to thrive	11128	POLR3A	ORPHA:3455
HP:0001508	Failure to thrive	79759	ZNF668	OMIM:620194
HP:0001508	Failure to thrive	1303	COL12A1	ORPHA:536516
HP:0001508	Failure to thrive	182	JAG1	OMIM:118450
HP:0001508	Failure to thrive	9440	MED17	OMIM:613668
HP:0001508	Failure to thrive	5422	POLA1	ORPHA:163976
HP:0001508	Failure to thrive	917	CD3G	OMIM:615607
HP:0001508	Failure to thrive	51128	SAR1B	ORPHA:71
HP:0001508	Failure to thrive	51128	SAR1B	OMIM:246700
HP:0001508	Failure to thrive	55343	SLC35C1	ORPHA:99843
HP:0001508	Failure to thrive	6638	SNRPN	ORPHA:98754
HP:0001508	Failure to thrive	6638	SNRPN	ORPHA:177904
HP:0001508	Failure to thrive	6638	SNRPN	ORPHA:177901
HP:0001508	Failure to thrive	4692	NDN	ORPHA:98754
HP:0001508	Failure to thrive	4692	NDN	ORPHA:177904
HP:0001508	Failure to thrive	4692	NDN	ORPHA:177901
HP:0001508	Failure to thrive	4948	OCA2	ORPHA:98754
HP:0001508	Failure to thrive	4948	OCA2	ORPHA:177904
HP:0001508	Failure to thrive	4948	OCA2	ORPHA:177901
HP:0001508	Failure to thrive	695	BTK	ORPHA:47
HP:0001508	Failure to thrive	8813	DPM1	OMIM:608799
HP:0001508	Failure to thrive	8813	DPM1	ORPHA:79322
HP:0001508	Failure to thrive	1438	CSF2RA	OMIM:300770
HP:0001508	Failure to thrive	8573	CASK	ORPHA:163937
HP:0001508	Failure to thrive	8573	CASK	ORPHA:1934
HP:0001508	Failure to thrive	8242	KDM5C	OMIM:300534
HP:0001508	Failure to thrive	9652	SKIC3	OMIM:222470
HP:0001508	Failure to thrive	55275	VPS53	OMIM:615851
HP:0001508	Failure to thrive	445	ASS1	OMIM:215700
HP:0001508	Failure to thrive	915	CD3D	OMIM:615617
HP:0001508	Failure to thrive	6314	ATXN7	ORPHA:94147
HP:0001508	Failure to thrive	171023	ASXL1	OMIM:605039
HP:0001508	Failure to thrive	8694	DGAT1	OMIM:615863
HP:0001508	Failure to thrive	4000	LMNA	OMIM:613205
HP:0001508	Failure to thrive	4000	LMNA	OMIM:151660
HP:0001508	Failure to thrive	4000	LMNA	ORPHA:79474
HP:0001508	Failure to thrive	1288	COL4A6	ORPHA:1018
HP:0001508	Failure to thrive	1287	COL4A5	ORPHA:1018
HP:0001508	Failure to thrive	9663	LPIN2	OMIM:609628
HP:0001508	Failure to thrive	9663	LPIN2	ORPHA:77297
HP:0001508	Failure to thrive	91949	COG7	OMIM:608779
HP:0001508	Failure to thrive	91949	COG7	ORPHA:79333
HP:0001508	Failure to thrive	2245	FGD1	OMIM:305400
HP:0001508	Failure to thrive	4688	NCF2	OMIM:233710
HP:0001508	Failure to thrive	6569	SLC34A1	OMIM:616963
HP:0001508	Failure to thrive	132	ADK	OMIM:614300
HP:0001508	Failure to thrive	23394	ADNP	OMIM:615873
HP:0001508	Failure to thrive	4072	EPCAM	OMIM:613217
HP:0001508	Failure to thrive	4072	EPCAM	ORPHA:92050
HP:0001508	Failure to thrive	6948	TCN2	OMIM:275350
HP:0001508	Failure to thrive	79796	ALG9	OMIM:608776
HP:0001508	Failure to thrive	50943	FOXP3	OMIM:304790
HP:0001508	Failure to thrive	3981	LIG4	OMIM:606593
HP:0001508	Failure to thrive	3981	LIG4	ORPHA:235
HP:0001508	Failure to thrive	3981	LIG4	ORPHA:39041
HP:0001508	Failure to thrive	3718	JAK3	OMIM:600802
HP:0001508	Failure to thrive	1806	DPYD	OMIM:274270
HP:0001508	Failure to thrive	54931	TRMT10C	OMIM:616974
HP:0001508	Failure to thrive	4792	NFKBIA	OMIM:612132
HP:0001508	Failure to thrive	4792	NFKBIA	ORPHA:98813
HP:0001508	Failure to thrive	2782	GNB1	OMIM:616973
HP:0001508	Failure to thrive	2782	GNB1	ORPHA:488613
HP:0001508	Failure to thrive	131118	DNAJC19	OMIM:610198
HP:0001508	Failure to thrive	8085	KMT2D	ORPHA:2322
HP:0001508	Failure to thrive	7403	KDM6A	ORPHA:2322
HP:0001508	Failure to thrive	79644	SRD5A3	OMIM:612379
HP:0001508	Failure to thrive	117581	TWIST2	ORPHA:1231
HP:0001508	Failure to thrive	50	ACO2	OMIM:614559
HP:0001508	Failure to thrive	3097	HIVEP2	OMIM:616977
HP:0001508	Failure to thrive	7547	ZIC3	OMIM:306955
HP:0001508	Failure to thrive	7037	TFRC	OMIM:616740
HP:0001508	Failure to thrive	4358	MPV17	OMIM:256810
HP:0001508	Failure to thrive	10616	RBCK1	OMIM:615895
HP:0001508	Failure to thrive	130589	GALM	ORPHA:570422
HP:0001508	Failure to thrive	6868	ADAM17	OMIM:614328
HP:0001508	Failure to thrive	2917	GRM7	OMIM:618922
HP:0001508	Failure to thrive	2917	GRM7	ORPHA:1934
HP:0001508	Failure to thrive	81620	CDT1	ORPHA:2554
HP:0001508	Failure to thrive	81620	CDT1	OMIM:613804
HP:0001508	Failure to thrive	5000	ORC4	ORPHA:2554
HP:0001508	Failure to thrive	5000	ORC4	OMIM:613800
HP:0001508	Failure to thrive	23594	ORC6	ORPHA:2554
HP:0001508	Failure to thrive	23594	ORC6	OMIM:613803
HP:0001508	Failure to thrive	8318	CDC45	ORPHA:2554
HP:0001508	Failure to thrive	990	CDC6	ORPHA:2554
HP:0001508	Failure to thrive	990	CDC6	OMIM:613805
HP:0001508	Failure to thrive	51053	GMNN	ORPHA:2554
HP:0001508	Failure to thrive	51053	GMNN	OMIM:616835
HP:0001508	Failure to thrive	84693	MCEE	OMIM:251120
HP:0001508	Failure to thrive	1349	COX7B	ORPHA:2556
HP:0001508	Failure to thrive	3052	HCCS	ORPHA:2556
HP:0001508	Failure to thrive	4982	TNFRSF11B	OMIM:239000
HP:0001508	Failure to thrive	25	ABL1	OMIM:617602
HP:0001508	Failure to thrive	57511	COG6	OMIM:614576
HP:0001508	Failure to thrive	25839	COG4	OMIM:613489
HP:0001508	Failure to thrive	26227	PHGDH	ORPHA:79351
HP:0001508	Failure to thrive	3868	KRT16	ORPHA:2309
HP:0001508	Failure to thrive	3872	KRT17	ORPHA:2309
HP:0001508	Failure to thrive	3853	KRT6A	ORPHA:2309
HP:0001508	Failure to thrive	3854	KRT6B	ORPHA:2309
HP:0001508	Failure to thrive	27031	NPHP3	OMIM:604387
HP:0001508	Failure to thrive	326625	MMAB	OMIM:251110
HP:0001508	Failure to thrive	760	CA2	ORPHA:2785
HP:0001508	Failure to thrive	60	ACTB	OMIM:243310
HP:0001508	Failure to thrive	60	ACTB	ORPHA:2995
HP:0001508	Failure to thrive	23476	BRD4	ORPHA:199
HP:0001508	Failure to thrive	9126	SMC3	ORPHA:199
HP:0001508	Failure to thrive	9126	SMC3	OMIM:610759
HP:0001508	Failure to thrive	8243	SMC1A	ORPHA:199
HP:0001508	Failure to thrive	8243	SMC1A	ORPHA:220386
HP:0001508	Failure to thrive	6878	TAF6	ORPHA:199
HP:0001508	Failure to thrive	25836	NIPBL	ORPHA:199
HP:0001508	Failure to thrive	55869	HDAC8	ORPHA:199
HP:0001508	Failure to thrive	5885	RAD21	ORPHA:199
HP:0001508	Failure to thrive	10664	CTCF	ORPHA:363611
HP:0001508	Failure to thrive	10664	CTCF	OMIM:615502
HP:0001508	Failure to thrive	55180	LINS1	OMIM:614340
HP:0001508	Failure to thrive	11222	MRPL3	OMIM:614582
HP:0001508	Failure to thrive	51520	LARS1	OMIM:615438
HP:0001508	Failure to thrive	80152	CENPT	OMIM:618702
HP:0001508	Failure to thrive	6476	SI	ORPHA:35122
HP:0001508	Failure to thrive	55617	TASP1	OMIM:618950
HP:0001508	Failure to thrive	6182	MRPL12	OMIM:618951
HP:0001508	Failure to thrive	60528	ELAC2	OMIM:615440
HP:0001508	Failure to thrive	57688	ZSWIM6	OMIM:617865
HP:0001508	Failure to thrive	2893	GRIA4	OMIM:617864
HP:0001508	Failure to thrive	28957	MRPS28	OMIM:618958
HP:0001508	Failure to thrive	50615	IL21R	OMIM:615207
HP:0001508	Failure to thrive	57570	TRMT5	OMIM:616539
HP:0001508	Failure to thrive	3033	HADH	ORPHA:71212
HP:0001508	Failure to thrive	617	BCS1L	OMIM:124000
HP:0001508	Failure to thrive	139285	AMER1	OMIM:300373
HP:0001508	Failure to thrive	54802	TRIT1	OMIM:617873
HP:0001508	Failure to thrive	51081	MRPS7	OMIM:617872
HP:0001508	Failure to thrive	1537	CYC1	OMIM:615453
HP:0001508	Failure to thrive	26503	SLC17A5	OMIM:269920
HP:0001508	Failure to thrive	4724	NDUFS4	OMIM:252010
HP:0001508	Failure to thrive	4724	NDUFS4	ORPHA:2609
HP:0001508	Failure to thrive	133686	NADK2	ORPHA:431361
HP:0001508	Failure to thrive	133686	NADK2	OMIM:616034
HP:0001508	Failure to thrive	3458	IFNG	OMIM:618963
HP:0001508	Failure to thrive	5449	POU1F1	OMIM:613038
HP:0001508	Failure to thrive	4621	MYH3	ORPHA:2990
HP:0001508	Failure to thrive	4621	MYH3	OMIM:193700
HP:0001508	Failure to thrive	4621	MYH3	ORPHA:2053
HP:0001508	Failure to thrive	1146	CHRNG	ORPHA:2990
HP:0001508	Failure to thrive	26123	TCTN3	ORPHA:2753
HP:0001508	Failure to thrive	26123	TCTN3	ORPHA:2754
HP:0001508	Failure to thrive	71	ACTG1	ORPHA:2995
HP:0001508	Failure to thrive	79583	TMEM231	ORPHA:2754
HP:0001508	Failure to thrive	10210	TOPORS	ORPHA:2754
HP:0001508	Failure to thrive	9851	KIAA0753	ORPHA:2754
HP:0001508	Failure to thrive	5147	PDE6D	ORPHA:2754
HP:0001508	Failure to thrive	8481	OFD1	ORPHA:2754
HP:0001508	Failure to thrive	317662	FAM149B1	ORPHA:2754
HP:0001508	Failure to thrive	374654	KIF7	ORPHA:2754
HP:0001508	Failure to thrive	374654	KIF7	OMIM:200990
HP:0001508	Failure to thrive	1832	DSP	OMIM:605676
HP:0001508	Failure to thrive	5699	PSMB10	OMIM:620807
HP:0001508	Failure to thrive	672	BRCA1	OMIM:617883
HP:0001508	Failure to thrive	4153	MBL2	OMIM:614372
HP:0001508	Failure to thrive	523	ATP6V1A	OMIM:617403
HP:0001508	Failure to thrive	523	ATP6V1A	ORPHA:442835
HP:0001508	Failure to thrive	523	ATP6V1A	ORPHA:357074
HP:0001508	Failure to thrive	242	ALOX12B	ORPHA:79394
HP:0001508	Failure to thrive	204219	CERS3	ORPHA:79394
HP:0001508	Failure to thrive	6820	SULT2B1	ORPHA:79394
HP:0001508	Failure to thrive	285848	PNPLA1	ORPHA:79394
HP:0001508	Failure to thrive	59344	ALOXE3	ORPHA:79394
HP:0001508	Failure to thrive	348938	NIPAL4	ORPHA:79394
HP:0001508	Failure to thrive	7051	TGM1	ORPHA:79394
HP:0001508	Failure to thrive	121214	SDR9C7	ORPHA:79394
HP:0001508	Failure to thrive	6929	TCF3	OMIM:619824
HP:0001508	Failure to thrive	6929	TCF3	ORPHA:33110
HP:0001508	Failure to thrive	3852	KRT5	ORPHA:79396
HP:0001508	Failure to thrive	2746	GLUD1	OMIM:606762
HP:0001508	Failure to thrive	100	ADA	ORPHA:277
HP:0001508	Failure to thrive	100	ADA	ORPHA:39041
HP:0001508	Failure to thrive	100	ADA	OMIM:102700
HP:0001508	Failure to thrive	3561	IL2RG	ORPHA:276
HP:0001508	Failure to thrive	3561	IL2RG	OMIM:300400
HP:0001508	Failure to thrive	3561	IL2RG	ORPHA:39041
HP:0001508	Failure to thrive	1497	CTNS	OMIM:219800
HP:0001508	Failure to thrive	1497	CTNS	ORPHA:411629
HP:0001508	Failure to thrive	1497	CTNS	ORPHA:411634
HP:0001508	Failure to thrive	8036	SHOC2	OMIM:607721
HP:0001508	Failure to thrive	64421	DCLRE1C	ORPHA:275
HP:0001508	Failure to thrive	64421	DCLRE1C	OMIM:603554
HP:0001508	Failure to thrive	64421	DCLRE1C	OMIM:602450
HP:0001508	Failure to thrive	64421	DCLRE1C	ORPHA:39041
HP:0001508	Failure to thrive	4791	NFKB2	ORPHA:293978
HP:0001508	Failure to thrive	25915	NDUFAF3	ORPHA:2609
HP:0001508	Failure to thrive	51103	NDUFAF1	ORPHA:2609
HP:0001508	Failure to thrive	51103	NDUFAF1	OMIM:618234
HP:0001508	Failure to thrive	91942	NDUFAF2	ORPHA:2609
HP:0001508	Failure to thrive	51300	TIMMDC1	ORPHA:2609
HP:0001508	Failure to thrive	51300	TIMMDC1	OMIM:618251
HP:0001508	Failure to thrive	4716	NDUFB10	ORPHA:2609
HP:0001508	Failure to thrive	4723	NDUFV1	ORPHA:2609
HP:0001508	Failure to thrive	55572	FOXRED1	ORPHA:2609
HP:0001508	Failure to thrive	284184	NDUFAF8	ORPHA:2609
HP:0001508	Failure to thrive	55863	TMEM126B	ORPHA:2609
HP:0001508	Failure to thrive	55863	TMEM126B	OMIM:618250
HP:0001508	Failure to thrive	4537	MT-ND3	ORPHA:2609
HP:0001508	Failure to thrive	4537	MT-ND3	ORPHA:255210
HP:0001508	Failure to thrive	4729	NDUFV2	ORPHA:2609
HP:0001508	Failure to thrive	4729	NDUFV2	OMIM:618229
HP:0001508	Failure to thrive	4694	NDUFA1	ORPHA:2609
HP:0001508	Failure to thrive	4720	NDUFS2	ORPHA:2609
HP:0001508	Failure to thrive	4720	NDUFS2	OMIM:618228
HP:0001508	Failure to thrive	4726	NDUFS6	ORPHA:2609
HP:0001508	Failure to thrive	4728	NDUFS8	ORPHA:2609
HP:0001508	Failure to thrive	4722	NDUFS3	ORPHA:2609
HP:0001508	Failure to thrive	79133	NDUFAF5	ORPHA:2609
HP:0001508	Failure to thrive	79133	NDUFAF5	OMIM:618238
HP:0001508	Failure to thrive	126328	NDUFA11	ORPHA:2609
HP:0001508	Failure to thrive	4709	NDUFB3	ORPHA:2609
HP:0001508	Failure to thrive	4709	NDUFB3	OMIM:618246
HP:0001508	Failure to thrive	80224	NUBPL	ORPHA:2609
HP:0001508	Failure to thrive	29078	NDUFAF4	ORPHA:2609
HP:0001508	Failure to thrive	29078	NDUFAF4	OMIM:618237
HP:0001508	Failure to thrive	374291	NDUFS7	ORPHA:2609
HP:0001508	Failure to thrive	4700	NDUFA6	ORPHA:2609
HP:0001508	Failure to thrive	4536	MT-ND2	ORPHA:2609
HP:0001508	Failure to thrive	4536	MT-ND2	ORPHA:255210
HP:0001508	Failure to thrive	4719	NDUFS1	ORPHA:2609
HP:0001508	Failure to thrive	4719	NDUFS1	OMIM:618226
HP:0001508	Failure to thrive	4715	NDUFB9	ORPHA:2609
HP:0001508	Failure to thrive	3551	IKBKB	OMIM:615592
HP:0001508	Failure to thrive	10617	STAMBP	OMIM:614261
HP:0001508	Failure to thrive	8367	H4C5	OMIM:619950
HP:0001508	Failure to thrive	229	ALDOB	OMIM:229600
HP:0001508	Failure to thrive	151648	SGO1	OMIM:616201
HP:0001508	Failure to thrive	57128	LYRM4	OMIM:615595
HP:0001508	Failure to thrive	197322	ACSF3	OMIM:614265
HP:0001508	Failure to thrive	197322	ACSF3	ORPHA:289504
HP:0001508	Failure to thrive	3703	STT3A	OMIM:615596
HP:0001508	Failure to thrive	3703	STT3A	ORPHA:370921
HP:0001508	Failure to thrive	6016	RIT1	OMIM:615355
HP:0001508	Failure to thrive	10054	UBA2	OMIM:619959
HP:0001508	Failure to thrive	4860	PNP	OMIM:613179
HP:0001508	Failure to thrive	2720	GLB1	OMIM:230600
HP:0001508	Failure to thrive	80270	HSD3B7	ORPHA:79301
HP:0001508	Failure to thrive	80270	HSD3B7	OMIM:607765
HP:0001508	Failure to thrive	2072	ERCC4	ORPHA:90321
HP:0001508	Failure to thrive	2072	ERCC4	OMIM:610965
HP:0001508	Failure to thrive	2072	ERCC4	ORPHA:910
HP:0001508	Failure to thrive	79783	SUGCT	ORPHA:35706
HP:0001508	Failure to thrive	79783	SUGCT	OMIM:231690
HP:0001508	Failure to thrive	79848	CSPP1	ORPHA:397715
HP:0001508	Failure to thrive	9786	KIAA0586	ORPHA:397715
HP:0001508	Failure to thrive	4577	MT-TV	ORPHA:255210
HP:0001508	Failure to thrive	4508	MT-ATP6	ORPHA:255210
HP:0001508	Failure to thrive	4508	MT-ATP6	ORPHA:225154
HP:0001508	Failure to thrive	4566	MT-TK	ORPHA:255210
HP:0001508	Failure to thrive	3074	HEXB	ORPHA:309162
HP:0001508	Failure to thrive	249	ALPL	OMIM:241500
HP:0001508	Failure to thrive	3021	H3-3B	OMIM:619721
HP:0001508	Failure to thrive	1644	DDC	ORPHA:35708
HP:0001508	Failure to thrive	1528	CYB5A	ORPHA:90796
HP:0001508	Failure to thrive	1586	CYP17A1	ORPHA:90796
HP:0001508	Failure to thrive	1586	CYP17A1	ORPHA:90793
HP:0001508	Failure to thrive	51111	KMT5B	OMIM:617788
HP:0001508	Failure to thrive	790	CAD	OMIM:616457
HP:0001508	Failure to thrive	6523	SLC5A1	ORPHA:35710
HP:0001508	Failure to thrive	6523	SLC5A1	OMIM:606824
HP:0001508	Failure to thrive	3284	HSD3B2	ORPHA:90791
HP:0001508	Failure to thrive	6440	SFTPC	OMIM:610913
HP:0001508	Failure to thrive	23474	ETHE1	ORPHA:51188
HP:0001508	Failure to thrive	23474	ETHE1	OMIM:602473
HP:0001508	Failure to thrive	137492	VPS37A	ORPHA:319199
HP:0001508	Failure to thrive	25885	POLR1A	OMIM:616462
HP:0001508	Failure to thrive	91869	RFT1	ORPHA:244310
HP:0001508	Failure to thrive	91869	RFT1	OMIM:612015
HP:0001508	Failure to thrive	4853	NOTCH2	OMIM:102500
HP:0001508	Failure to thrive	4853	NOTCH2	ORPHA:955
HP:0001508	Failure to thrive	8560	DEGS1	OMIM:618404
HP:0001508	Failure to thrive	21	ABCA3	OMIM:610921
HP:0001508	Failure to thrive	5566	PRKACA	ORPHA:289
HP:0001508	Failure to thrive	5567	PRKACB	ORPHA:289
HP:0001508	Failure to thrive	2735	GLI1	ORPHA:289
HP:0001508	Failure to thrive	2121	EVC	ORPHA:289
HP:0001508	Failure to thrive	51626	DYNC2LI1	ORPHA:289
HP:0001508	Failure to thrive	132884	EVC2	ORPHA:289
HP:0001508	Failure to thrive	652	BMP4	OMIM:607932
HP:0001508	Failure to thrive	54872	PIGG	ORPHA:280
HP:0001508	Failure to thrive	7469	NELFA	ORPHA:280
HP:0001508	Failure to thrive	22872	SEC31A	OMIM:618651
HP:0001508	Failure to thrive	54968	TMEM70	OMIM:614052
HP:0001508	Failure to thrive	4297	KMT2A	ORPHA:319182
HP:0001508	Failure to thrive	4297	KMT2A	OMIM:605130
HP:0001508	Failure to thrive	28755	TRAC	OMIM:615387
HP:0001508	Failure to thrive	2783	GNB2	OMIM:619503
HP:0001508	Failure to thrive	3737	KCNA2	ORPHA:442835
HP:0001508	Failure to thrive	1759	DNM1	ORPHA:442835
HP:0001508	Failure to thrive	1759	DNM1	OMIM:620352
HP:0001508	Failure to thrive	8120	AP3B2	ORPHA:442835
HP:0001508	Failure to thrive	10991	SLC38A3	ORPHA:442835
HP:0001508	Failure to thrive	3747	KCNC2	ORPHA:442835
HP:0001508	Failure to thrive	1917	EEF1A2	ORPHA:442835
HP:0001508	Failure to thrive	23219	FBXO28	ORPHA:442835
HP:0001508	Failure to thrive	2561	GABRB2	ORPHA:442835
HP:0001508	Failure to thrive	8831	SYNGAP1	ORPHA:442835
HP:0001508	Failure to thrive	2558	GABRA5	ORPHA:442835
HP:0001508	Failure to thrive	2906	GRIN2D	ORPHA:442835
HP:0001508	Failure to thrive	2906	GRIN2D	OMIM:617162
HP:0001508	Failure to thrive	1213	CLTC	ORPHA:442835
HP:0001508	Failure to thrive	51741	WWOX	ORPHA:442835
HP:0001508	Failure to thrive	23334	SZT2	ORPHA:442835
HP:0001508	Failure to thrive	348980	HCN1	ORPHA:442835
HP:0001508	Failure to thrive	25977	NECAP1	ORPHA:442835
HP:0001508	Failure to thrive	23241	PACS2	ORPHA:442835
HP:0001508	Failure to thrive	6334	SCN8A	ORPHA:442835
HP:0001508	Failure to thrive	9568	GABBR2	ORPHA:442835
HP:0001508	Failure to thrive	2555	GABRA2	ORPHA:442835
HP:0001508	Failure to thrive	55152	DALRD3	ORPHA:442835
HP:0001508	Failure to thrive	26999	CYFIP2	ORPHA:442835
HP:0001508	Failure to thrive	4915	NTRK2	ORPHA:442835
HP:0001508	Failure to thrive	25973	PARS2	ORPHA:442835
HP:0001508	Failure to thrive	23097	CDK19	ORPHA:442835
HP:0001508	Failure to thrive	2257	FGF12	ORPHA:442835
HP:0001508	Failure to thrive	5530	PPP3CA	ORPHA:442835
HP:0001508	Failure to thrive	22906	TRAK1	ORPHA:442835
HP:0001508	Failure to thrive	22906	TRAK1	OMIM:618201
HP:0001508	Failure to thrive	2566	GABRG2	ORPHA:442835
HP:0001508	Failure to thrive	7532	YWHAG	ORPHA:442835
HP:0001508	Failure to thrive	79876	UBA5	ORPHA:442835
HP:0001508	Failure to thrive	79876	UBA5	OMIM:617132
HP:0001508	Failure to thrive	6328	SCN3A	ORPHA:442835
HP:0001508	Failure to thrive	6328	SCN3A	OMIM:617938
HP:0001508	Failure to thrive	781	CACNA2D1	ORPHA:442835
HP:0001508	Failure to thrive	10659	CELF2	ORPHA:442835
HP:0001508	Failure to thrive	774	CACNA1B	ORPHA:442835
HP:0001508	Failure to thrive	51412	ACTL6B	ORPHA:442835
HP:0001508	Failure to thrive	2290	FOXG1	ORPHA:442835
HP:0001508	Failure to thrive	6506	SLC1A2	ORPHA:442835
HP:0001508	Failure to thrive	8867	SYNJ1	ORPHA:442835
HP:0001508	Failure to thrive	3745	KCNB1	ORPHA:442835
HP:0001508	Failure to thrive	284111	SLC13A5	ORPHA:442835
HP:0001508	Failure to thrive	22866	CNKSR2	ORPHA:442835
HP:0001508	Failure to thrive	6323	SCN1A	ORPHA:442835
HP:0001508	Failure to thrive	6323	SCN1A	ORPHA:293181
HP:0001508	Failure to thrive	55361	PI4K2A	OMIM:620732
HP:0001508	Failure to thrive	7092	TLL1	ORPHA:99106
HP:0001508	Failure to thrive	8241	RBM10	OMIM:311900
HP:0001508	Failure to thrive	8241	RBM10	ORPHA:2886
HP:0001508	Failure to thrive	1789	DNMT3B	OMIM:242860
HP:0001508	Failure to thrive	54888	NSUN2	ORPHA:235
HP:0001508	Failure to thrive	10804	GJB6	ORPHA:477
HP:0001508	Failure to thrive	2706	GJB2	ORPHA:477
HP:0001508	Failure to thrive	9056	SLC7A7	ORPHA:470
HP:0001508	Failure to thrive	9056	SLC7A7	OMIM:222700
HP:0001508	Failure to thrive	1182	CLCN3	OMIM:619512
HP:0001508	Failure to thrive	142680	SLC34A3	OMIM:241530
HP:0001508	Failure to thrive	54914	FOCAD	OMIM:619991
HP:0001508	Failure to thrive	9453	GGPS1	OMIM:619518
HP:0001508	Failure to thrive	1660	DHX9	OMIM:620988
HP:0001508	Failure to thrive	57282	SLC4A10	OMIM:620746
HP:0001508	Failure to thrive	2592	GALT	OMIM:230400
HP:0001508	Failure to thrive	8021	NUP214	OMIM:618426
HP:0001508	Failure to thrive	4191	MDH2	OMIM:617339
HP:0001508	Failure to thrive	166785	MMAA	OMIM:251100
HP:0001508	Failure to thrive	5551	PRF1	OMIM:603553
HP:0001508	Failure to thrive	554	AVPR2	ORPHA:223
HP:0001508	Failure to thrive	554	AVPR2	OMIM:304800
HP:0001508	Failure to thrive	359	AQP2	ORPHA:223
HP:0001508	Failure to thrive	359	AQP2	OMIM:125800
HP:0001508	Failure to thrive	9533	POLR1C	OMIM:616494
HP:0001508	Failure to thrive	9533	POLR1C	ORPHA:861
HP:0001508	Failure to thrive	27086	FOXP1	ORPHA:391372
HP:0001508	Failure to thrive	5971	RELB	OMIM:617585
HP:0001508	Failure to thrive	2542	SLC37A4	OMIM:619525
HP:0001508	Failure to thrive	2542	SLC37A4	ORPHA:79259
HP:0001508	Failure to thrive	57492	ARID1B	ORPHA:251056
HP:0001508	Failure to thrive	5290	PIK3CA	ORPHA:168984
HP:0001508	Failure to thrive	5290	PIK3CA	ORPHA:201
HP:0001508	Failure to thrive	5290	PIK3CA	ORPHA:60040
HP:0001508	Failure to thrive	10743	RAI1	ORPHA:1713
HP:0001508	Failure to thrive	10743	RAI1	OMIM:182290
HP:0001508	Failure to thrive	675	BRCA2	OMIM:605724
HP:0001508	Failure to thrive	2271	FH	OMIM:606812
HP:0001508	Failure to thrive	9968	MED12	OMIM:301068
HP:0001508	Failure to thrive	57724	EPG5	OMIM:242840
HP:0001508	Failure to thrive	51651	PTRH2	OMIM:616263
HP:0001508	Failure to thrive	51651	PTRH2	ORPHA:456312
HP:0001508	Failure to thrive	5692	PSMB4	OMIM:617591
HP:0001508	Failure to thrive	79989	IFT56	OMIM:619534
HP:0001508	Failure to thrive	10848	PPP1R13L	OMIM:620519
HP:0001508	Failure to thrive	84522	JAGN1	OMIM:616022
HP:0001508	Failure to thrive	3930	LBR	OMIM:169400
HP:0001508	Failure to thrive	29929	ALG6	ORPHA:79320
HP:0001508	Failure to thrive	79087	ALG12	ORPHA:79324
HP:0001508	Failure to thrive	79087	ALG12	OMIM:607143
HP:0001508	Failure to thrive	10195	ALG3	OMIM:601110
HP:0001508	Failure to thrive	6595	SMARCA2	OMIM:601358
HP:0001508	Failure to thrive	81704	DOCK8	OMIM:243700
HP:0001508	Failure to thrive	27247	NFU1	OMIM:605711
HP:0001508	Failure to thrive	6261	RYR1	OMIM:619542
HP:0001508	Failure to thrive	6261	RYR1	ORPHA:424107
HP:0001508	Failure to thrive	57505	AARS2	OMIM:614096
HP:0001508	Failure to thrive	51117	COQ4	OMIM:616276
HP:0001508	Failure to thrive	3763	KCNJ6	OMIM:614098
HP:0001508	Failure to thrive	3763	KCNJ6	ORPHA:435628
HP:0001508	Failure to thrive	5256	PHKA2	ORPHA:264580
HP:0001508	Failure to thrive	5261	PHKG2	ORPHA:264580
HP:0001508	Failure to thrive	826	CAPNS1	OMIM:620777
HP:0001508	Failure to thrive	6792	CDKL5	ORPHA:1934
HP:0001508	Failure to thrive	3736	KCNA1	ORPHA:1934
HP:0001508	Failure to thrive	9091	PIGQ	ORPHA:1934
HP:0001508	Failure to thrive	140679	SLC32A1	ORPHA:1934
HP:0001508	Failure to thrive	2775	GNAO1	ORPHA:1934
HP:0001508	Failure to thrive	81603	TRIM8	ORPHA:1934
HP:0001508	Failure to thrive	2902	GRIN1	ORPHA:1934
HP:0001508	Failure to thrive	79751	SLC25A22	ORPHA:1934
HP:0001508	Failure to thrive	79751	SLC25A22	ORPHA:293181
HP:0001508	Failure to thrive	150094	SIK1	ORPHA:1934
HP:0001508	Failure to thrive	23312	DMXL2	ORPHA:1934
HP:0001508	Failure to thrive	170302	ARX	ORPHA:1934
HP:0001508	Failure to thrive	11284	PNKP	ORPHA:1934
HP:0001508	Failure to thrive	6326	SCN2A	ORPHA:1934
HP:0001508	Failure to thrive	6326	SCN2A	ORPHA:293181
HP:0001508	Failure to thrive	51227	PIGP	ORPHA:1934
HP:0001508	Failure to thrive	6324	SCN1B	ORPHA:1934
HP:0001508	Failure to thrive	4761	NEUROD2	ORPHA:1934
HP:0001508	Failure to thrive	204	AK2	ORPHA:33355
HP:0001508	Failure to thrive	9900	SV2A	OMIM:620772
HP:0001508	Failure to thrive	846	CASR	OMIM:239200
HP:0001508	Failure to thrive	4594	MMUT	ORPHA:79312
HP:0001508	Failure to thrive	4594	MMUT	OMIM:251000
HP:0001508	Failure to thrive	54808	DYM	ORPHA:239
HP:0001508	Failure to thrive	973	CD79A	ORPHA:33110
HP:0001508	Failure to thrive	973	CD79A	OMIM:613501
HP:0001508	Failure to thrive	974	CD79B	ORPHA:33110
HP:0001508	Failure to thrive	6688	SPI1	ORPHA:33110
HP:0001508	Failure to thrive	3543	IGLL1	ORPHA:33110
HP:0001508	Failure to thrive	29760	BLNK	ORPHA:33110
HP:0001508	Failure to thrive	5295	PIK3R1	ORPHA:33110
HP:0001508	Failure to thrive	5295	PIK3R1	ORPHA:397596
HP:0001508	Failure to thrive	56262	LRRC8A	ORPHA:33110
HP:0001508	Failure to thrive	84706	GPT2	OMIM:616281
HP:0001508	Failure to thrive	84706	GPT2	ORPHA:477673
HP:0001508	Failure to thrive	5076	PAX2	ORPHA:97362
HP:0001508	Failure to thrive	5087	PBX1	ORPHA:97362
HP:0001508	Failure to thrive	30000	TNPO2	OMIM:619556
HP:0001508	Failure to thrive	54892	NCAPG2	OMIM:618460
HP:0001508	Failure to thrive	498	ATP5F1A	OMIM:616045
HP:0001508	Failure to thrive	498	ATP5F1A	OMIM:620358
HP:0001508	Failure to thrive	79705	LRRK1	OMIM:615198
HP:0001508	Failure to thrive	51728	POLR3K	OMIM:619310
HP:0001508	Failure to thrive	8818	DPM2	ORPHA:329178
HP:0001508	Failure to thrive	2202	EFEMP1	OMIM:620780
HP:0001508	Failure to thrive	256297	PTF1A	OMIM:609069
HP:0001508	Failure to thrive	2627	GATA6	OMIM:600001
HP:0001508	Failure to thrive	2627	GATA6	ORPHA:2255
HP:0001508	Failure to thrive	58484	NLRC4	OMIM:616050
HP:0001508	Failure to thrive	1387	CREBBP	ORPHA:353281
HP:0001508	Failure to thrive	1387	CREBBP	OMIM:180849
HP:0001508	Failure to thrive	1387	CREBBP	ORPHA:353277
HP:0001508	Failure to thrive	26275	HIBCH	ORPHA:88639
HP:0001508	Failure to thrive	26275	HIBCH	OMIM:250620
HP:0001508	Failure to thrive	4695	NDUFA2	OMIM:618235
HP:0001508	Failure to thrive	29998	BICRA	OMIM:619325
HP:0001508	Failure to thrive	6651	SON	OMIM:617140
HP:0001508	Failure to thrive	6729	SRP54	OMIM:260400
HP:0001508	Failure to thrive	22861	NLRP1	OMIM:617388
HP:0001508	Failure to thrive	2033	EP300	ORPHA:353284
HP:0001508	Failure to thrive	2033	EP300	OMIM:180849
HP:0001508	Failure to thrive	6263	RYR3	OMIM:620310
HP:0001508	Failure to thrive	10166	SLC25A15	ORPHA:415
HP:0001508	Failure to thrive	10166	SLC25A15	OMIM:238970
HP:0001508	Failure to thrive	79068	FTO	OMIM:612938
HP:0001508	Failure to thrive	8869	ST3GAL5	OMIM:609056
HP:0001508	Failure to thrive	57551	TAOK1	OMIM:619575
HP:0001508	Failure to thrive	2530	FUT8	OMIM:618005
HP:0001508	Failure to thrive	1956	EGFR	OMIM:616069
HP:0001508	Failure to thrive	54496	PRMT7	OMIM:617157
HP:0001508	Failure to thrive	7019	TFAM	OMIM:617156
HP:0001508	Failure to thrive	3394	IRF8	OMIM:226990
HP:0001508	Failure to thrive	5831	PYCR1	OMIM:612940
HP:0001508	Failure to thrive	51079	NDUFA13	OMIM:618249
HP:0001508	Failure to thrive	29920	PYCR2	ORPHA:481152
HP:0001508	Failure to thrive	29920	PYCR2	OMIM:616420
HP:0001508	Failure to thrive	22845	DOLK	OMIM:610768
HP:0001508	Failure to thrive	22845	DOLK	ORPHA:91131
HP:0001508	Failure to thrive	10483	SEC23B	ORPHA:201
HP:0001508	Failure to thrive	5728	PTEN	ORPHA:201
HP:0001508	Failure to thrive	5728	PTEN	ORPHA:397596
HP:0001508	Failure to thrive	6390	SDHB	ORPHA:201
HP:0001508	Failure to thrive	6392	SDHD	ORPHA:201
HP:0001508	Failure to thrive	6391	SDHC	ORPHA:201
HP:0001508	Failure to thrive	207	AKT1	ORPHA:201
HP:0001508	Failure to thrive	205717	USF3	ORPHA:201
HP:0001508	Failure to thrive	100144748	KLLN	ORPHA:201
HP:0001508	Failure to thrive	80324	PUS1	OMIM:600462
HP:0001508	Failure to thrive	25942	SIN3A	ORPHA:94065
HP:0001508	Failure to thrive	191	AHCY	ORPHA:88618
HP:0001508	Failure to thrive	191	AHCY	OMIM:613752
HP:0001508	Failure to thrive	9496	TBX4	ORPHA:261279
HP:0001508	Failure to thrive	8091	HMGA2	ORPHA:94063
HP:0001508	Failure to thrive	23592	LEMD3	ORPHA:94063
HP:0001508	Failure to thrive	26276	VPS33B	OMIM:208085
HP:0001508	Failure to thrive	372	ARCN1	OMIM:617164
HP:0001508	Failure to thrive	4714	NDUFB8	OMIM:618252
HP:0001508	Failure to thrive	91039	DPP9	OMIM:620331
HP:0001508	Failure to thrive	84701	COX4I2	OMIM:612714
HP:0001508	Failure to thrive	2628	GATM	OMIM:612718
HP:0001508	Failure to thrive	9791	PTDSS1	OMIM:151050
HP:0001508	Failure to thrive	11340	EXOSC8	OMIM:616081
HP:0001508	Failure to thrive	11340	EXOSC8	ORPHA:2254
HP:0001508	Failure to thrive	35	ACADS	OMIM:201470
HP:0001508	Failure to thrive	35	ACADS	ORPHA:26792
HP:0001508	Failure to thrive	9420	CYP7B1	OMIM:613812
HP:0001508	Failure to thrive	55636	CHD7	ORPHA:39041
HP:0001508	Failure to thrive	3575	IL7R	ORPHA:39041
HP:0001508	Failure to thrive	3575	IL7R	ORPHA:169154
HP:0001508	Failure to thrive	84172	POLR1B	ORPHA:861
HP:0001508	Failure to thrive	51082	POLR1D	ORPHA:861
HP:0001508	Failure to thrive	6949	TCOF1	ORPHA:861
HP:0001508	Failure to thrive	374354	NHLRC2	OMIM:618278
HP:0001508	Failure to thrive	440138	ALG11	ORPHA:280071
HP:0001508	Failure to thrive	23287	AGTPBP1	OMIM:618276
HP:0001508	Failure to thrive	23287	AGTPBP1	ORPHA:2254
HP:0001508	Failure to thrive	51703	ACSL5	OMIM:620357
HP:0001508	Failure to thrive	64093	SMOC1	OMIM:206920
HP:0001508	Failure to thrive	64093	SMOC1	ORPHA:1106
HP:0001508	Failure to thrive	6299	SALL1	ORPHA:857
HP:0001508	Failure to thrive	51339	DACT1	ORPHA:857
HP:0001508	Failure to thrive	55898	UNC45A	OMIM:619377
HP:0001508	Failure to thrive	23636	NUP62	ORPHA:225154
HP:0001508	Failure to thrive	23636	NUP62	OMIM:271930
HP:0001508	Failure to thrive	53371	NUP54	ORPHA:225154
HP:0001508	Failure to thrive	103	ADAR	ORPHA:225154
HP:0001508	Failure to thrive	51371	POMP	OMIM:618048
HP:0001508	Failure to thrive	2332	FMR1	ORPHA:261483
HP:0001508	Failure to thrive	1984	EIF5A	OMIM:619376
HP:0001508	Failure to thrive	210	ALAD	OMIM:612740
HP:0001508	Failure to thrive	1583	CYP11A1	ORPHA:168558
HP:0001508	Failure to thrive	1583	CYP11A1	ORPHA:289548
HP:0001508	Failure to thrive	3295	HSD17B4	OMIM:261515
HP:0001508	Failure to thrive	2581	GALC	ORPHA:206436
HP:0001508	Failure to thrive	2581	GALC	OMIM:245200
HP:0001508	Failure to thrive	5660	PSAP	ORPHA:206436
HP:0001508	Failure to thrive	4693	NDP	ORPHA:649
HP:0001508	Failure to thrive	124454	EARS2	OMIM:614924
HP:0001508	Failure to thrive	23522	KAT6B	ORPHA:3047
HP:0001508	Failure to thrive	11011	TLK2	OMIM:618050
HP:0001508	Failure to thrive	23040	MYT1L	ORPHA:647799
HP:0001508	Failure to thrive	3735	KARS1	OMIM:619147
HP:0001508	Failure to thrive	132001	TAMM41	OMIM:620139
HP:0001508	Failure to thrive	54938	SARS2	OMIM:613845
HP:0001508	Failure to thrive	4067	LYN	OMIM:620376
HP:0001508	Failure to thrive	6584	SLC22A5	OMIM:212140
HP:0001508	Failure to thrive	11113	CIT	OMIM:617090
HP:0001508	Failure to thrive	4702	NDUFA8	OMIM:619272
HP:0001508	Failure to thrive	10128	LRPPRC	OMIM:220111
HP:0001508	Failure to thrive	10128	LRPPRC	ORPHA:70472
HP:0001508	Failure to thrive	10134	BCAP31	OMIM:300475
HP:0001508	Failure to thrive	10134	BCAP31	ORPHA:369939
HP:0001508	Failure to thrive	3376	IARS1	OMIM:617093
HP:0001508	Failure to thrive	259232	NALCN	ORPHA:2053
HP:0001508	Failure to thrive	91574	MTRFR	ORPHA:254930
HP:0001508	Failure to thrive	91574	MTRFR	OMIM:613559
HP:0001508	Failure to thrive	4570	MT-TN	OMIM:220110
HP:0001508	Failure to thrive	6834	SURF1	OMIM:220110
HP:0001508	Failure to thrive	57468	SLC12A5	ORPHA:293181
HP:0001508	Failure to thrive	23236	PLCB1	ORPHA:293181
HP:0001508	Failure to thrive	3785	KCNQ2	ORPHA:293181
HP:0001508	Failure to thrive	57582	KCNT1	ORPHA:293181
HP:0001508	Failure to thrive	5277	PIGA	ORPHA:293181
HP:0001508	Failure to thrive	57465	TBC1D24	ORPHA:293181
HP:0001508	Failure to thrive	10274	STAG1	ORPHA:502434
HP:0001508	Failure to thrive	4774	NFIA	OMIM:613735
HP:0001508	Failure to thrive	8496	PPFIBP1	OMIM:620024
HP:0001508	Failure to thrive	8443	GNPAT	OMIM:222765
HP:0001508	Failure to thrive	6341	SCO1	OMIM:619048
HP:0001508	Failure to thrive	162	AP1B1	OMIM:242150
HP:0001508	Failure to thrive	1352	COX10	OMIM:619046
HP:0001508	Failure to thrive	55163	PNPO	ORPHA:79096
HP:0001508	Failure to thrive	55163	PNPO	OMIM:610090
HP:0001508	Failure to thrive	7015	TERT	OMIM:613989
HP:0001508	Failure to thrive	7015	TERT	ORPHA:3322
HP:0001508	Failure to thrive	7535	ZAP70	OMIM:269840
HP:0001508	Failure to thrive	7535	ZAP70	ORPHA:911
HP:0001508	Failure to thrive	7298	TYMS	OMIM:620040
HP:0001508	Failure to thrive	105371045	PERCC1	ORPHA:92050
HP:0001508	Failure to thrive	51360	MBTPS2	ORPHA:2273
HP:0001508	Failure to thrive	8647	ABCB11	OMIM:601847
HP:0001508	Failure to thrive	100131801	PET100	OMIM:619055
HP:0001508	Failure to thrive	3899	AFF3	OMIM:619297
HP:0001508	Failure to thrive	1136	CHRNA3	OMIM:191800
HP:0001508	Failure to thrive	6499	SKIC2	OMIM:614602
HP:0001508	Failure to thrive	340061	STING1	OMIM:615934
HP:0001508	Failure to thrive	3117	HLA-DQA1	OMIM:212750
HP:0001508	Failure to thrive	3119	HLA-DQB1	OMIM:212750
HP:0001508	Failure to thrive	55107	ANO1	OMIM:620045
HP:0001508	Failure to thrive	7080	NKX2-1	ORPHA:209905
HP:0001508	Failure to thrive	5095	PCCA	OMIM:606054
HP:0001508	Failure to thrive	5096	PCCB	OMIM:606054
HP:0001508	Failure to thrive	1717	DHCR7	OMIM:270400
HP:0001508	Failure to thrive	1327	COX4I1	OMIM:619060
HP:0001508	Failure to thrive	58	ACTA1	ORPHA:2020
HP:0001508	Failure to thrive	4633	MYL2	ORPHA:2020
HP:0001508	Failure to thrive	3679	ITGA7	ORPHA:2020
HP:0001508	Failure to thrive	7169	TPM2	ORPHA:2020
HP:0001508	Failure to thrive	9200	HACD1	ORPHA:2020
HP:0001508	Failure to thrive	51776	MAP3K20	ORPHA:2020
HP:0001508	Failure to thrive	132158	GLYCTK	OMIM:220120
HP:0001508	Failure to thrive	28976	ACAD9	ORPHA:99901
HP:0001508	Failure to thrive	3265	HRAS	OMIM:218040
HP:0001508	Failure to thrive	5826	ABCD4	OMIM:614857
HP:0001508	Failure to thrive	8517	IKBKG	ORPHA:98813
HP:0001508	Failure to thrive	338328	GPIHBP1	OMIM:615947
HP:0001508	Failure to thrive	2697	GJA1	OMIM:257850
HP:0001508	Failure to thrive	6521	SLC4A1	OMIM:611590
HP:0001508	Failure to thrive	9255	AIMP1	OMIM:260600
HP:0001508	Failure to thrive	540	ATP7B	ORPHA:905
HP:0001508	Failure to thrive	51010	EXOSC3	ORPHA:2254
HP:0001508	Failure to thrive	7443	VRK1	ORPHA:2254
HP:0001508	Failure to thrive	91137	SLC25A46	ORPHA:2254
HP:0001508	Failure to thrive	23600	AMACR	OMIM:214950
HP:0001508	Failure to thrive	6609	SMPD1	OMIM:257200
HP:0001508	Failure to thrive	5700	PSMC1	OMIM:620071
HP:0001508	Failure to thrive	190	NR0B1	OMIM:300200
HP:0001508	Failure to thrive	58508	KMT2C	ORPHA:261652
HP:0001508	Failure to thrive	5293	PIK3CD	ORPHA:397596
HP:0001508	Failure to thrive	2548	GAA	ORPHA:308552
HP:0001508	Failure to thrive	5159	PDGFRB	OMIM:601812
HP:0001508	Failure to thrive	4306	NR3C2	OMIM:177735
HP:0001508	Failure to thrive	3845	KRAS	ORPHA:3339
HP:0001508	Failure to thrive	3845	KRAS	OMIM:609942
HP:0001508	Failure to thrive	1811	SLC26A3	OMIM:214700
HP:0001508	Failure to thrive	5832	ALDH18A1	OMIM:219150
HP:0001508	Failure to thrive	3187	HNRNPH1	OMIM:620083
HP:0001508	Failure to thrive	9342	SNAP29	OMIM:609528
HP:0001508	Failure to thrive	64220	STRA6	ORPHA:2470
HP:0001508	Failure to thrive	7477	WNT7B	ORPHA:2470
HP:0001508	Failure to thrive	5915	RARB	ORPHA:2470
HP:0001508	Failure to thrive	23483	TGDS	ORPHA:1388
HP:0001508	Failure to thrive	8195	MKKS	ORPHA:2473
HP:0001508	Failure to thrive	51750	RTEL1	ORPHA:3322
HP:0001508	Failure to thrive	65057	ACD	ORPHA:3322
HP:0001508	Failure to thrive	26277	TINF2	ORPHA:3322
HP:0001508	Failure to thrive	1736	DKC1	ORPHA:3322
HP:0001508	Failure to thrive	1736	DKC1	OMIM:301108
HP:0001508	Failure to thrive	506	ATP5F1B	OMIM:620085
HP:0001508	Failure to thrive	51067	YARS2	OMIM:613561
HP:0001508	Failure to thrive	2703	GJA8	OMIM:612474
HP:0001508	Failure to thrive	2702	GJA5	OMIM:612474
HP:0001508	Failure to thrive	867	CBL	OMIM:613563
HP:0001508	Failure to thrive	55690	PACS1	ORPHA:329224
HP:0001508	Failure to thrive	79628	SH3TC2	ORPHA:99949
HP:0001508	Failure to thrive	6307	MSMO1	OMIM:616834
HP:0001508	Failure to thrive	2200	FBN1	ORPHA:2462
HP:0001508	Failure to thrive	55112	DYNC2I1	OMIM:615503
HP:0001508	Failure to thrive	63895	PIEZO2	ORPHA:2461
HP:0001508	Failure to thrive	1828	DSG1	OMIM:615508
HP:0001508	Failure to thrive	6888	TALDO1	OMIM:606003
HP:0001508	Failure to thrive	865	CBFB	OMIM:620099
HP:0001508	Failure to thrive	2068	ERCC2	ORPHA:910
HP:0001508	Failure to thrive	7507	XPA	ORPHA:910
HP:0001508	Failure to thrive	2071	ERCC3	ORPHA:910
HP:0001508	Failure to thrive	7508	XPC	ORPHA:910
HP:0001508	Failure to thrive	1643	DDB2	ORPHA:910
HP:0001508	Failure to thrive	2073	ERCC5	ORPHA:910
HP:0001508	Failure to thrive	5122	PCSK1	ORPHA:71528
HP:0001508	Failure to thrive	2632	GBE1	OMIM:232500
HP:0001508	Failure to thrive	7167	TPI1	OMIM:615512
HP:0001508	Failure to thrive	100151683	RNU4ATAC	OMIM:210710
HP:0001508	Failure to thrive	3932	LCK	OMIM:615758
HP:0001508	Failure to thrive	5443	POMC	ORPHA:71526
HP:0001508	Failure to thrive	5250	SLC25A3	ORPHA:91130
HP:0001508	Failure to thrive	4173	MCM4	OMIM:609981
HP:0001508	Failure to thrive	8050	PDHX	ORPHA:255182
HP:0001508	Failure to thrive	10157	AASS	ORPHA:2203
HP:0001508	Failure to thrive	23095	KIF1B	OMIM:256700
HP:0001508	Failure to thrive	55784	MCTP2	ORPHA:1596
HP:0001508	Failure to thrive	59067	IL21	OMIM:615767
HP:0001508	Failure to thrive	51116	MRPS2	OMIM:617950
HP:0001508	Failure to thrive	9512	PMPCB	OMIM:617954
HP:0001508	Failure to thrive	2058	EPRS1	OMIM:617951
HP:0001508	Failure to thrive	10095	ARPC1B	OMIM:617718
HP:0001508	Failure to thrive	91647	ATPAF2	OMIM:604273
HP:0001508	Failure to thrive	3758	KCNJ1	OMIM:241200
HP:0001508	Failure to thrive	54664	TMEM106B	OMIM:617964
HP:0001508	Failure to thrive	7421	VDR	OMIM:277440
HP:0001508	Failure to thrive	89874	SLC25A21	OMIM:618811
HP:0001508	Failure to thrive	55644	OSGEP	OMIM:617729
HP:0001508	Failure to thrive	2584	GALK1	ORPHA:79237
HP:0001508	Failure to thrive	7874	USP7	ORPHA:500055
HP:0001508	Failure to thrive	51501	HIKESHI	OMIM:616881
HP:0001508	Failure to thrive	5205	ATP8B1	OMIM:211600
HP:0001508	Failure to thrive	6925	TCF4	ORPHA:2896
HP:0001508	Failure to thrive	189	AGXT	ORPHA:93598
HP:0001508	Failure to thrive	7204	TRIO	ORPHA:476126
HP:0001508	Failure to thrive	4780	NFE2L2	OMIM:617744
HP:0001508	Failure to thrive	11005	SPINK5	OMIM:256500
HP:0001508	Failure to thrive	2670	GFAP	ORPHA:363717
HP:0001508	Failure to thrive	5500	PPP1CB	OMIM:617506
HP:0001508	Failure to thrive	54676	GTPBP2	OMIM:617988
HP:0001508	Failure to thrive	100506658	OCLN	OMIM:251290
HP:0001508	Failure to thrive	6519	SLC3A1	ORPHA:163690
HP:0001508	Failure to thrive	6519	SLC3A1	ORPHA:163693
HP:0001508	Failure to thrive	9581	PREPL	ORPHA:163690
HP:0001508	Failure to thrive	9581	PREPL	ORPHA:163693
HP:0001508	Failure to thrive	5495	PPM1B	ORPHA:163693
HP:0001508	Failure to thrive	79823	CAMKMT	ORPHA:163693
HP:0001508	Failure to thrive	6337	SCNN1A	OMIM:264350
HP:0001508	Failure to thrive	9414	TJP2	OMIM:607748
HP:0001508	Failure to thrive	4841	NONO	ORPHA:466791
HP:0001508	Failure to thrive	2819	GPD1	OMIM:614480
HP:0001508	Failure to thrive	139818	DOCK11	OMIM:301109
HP:0001508	Failure to thrive	529	ATP6V1E1	ORPHA:357074
HP:0001508	Failure to thrive	440	ASNS	OMIM:615574
HP:0001508	Failure to thrive	27040	LAT	OMIM:617514
HP:0001508	Failure to thrive	738	VPS51	OMIM:618606
HP:0001508	Failure to thrive	8815	BANF1	OMIM:614008
HP:0001508	Failure to thrive	25974	MMACHC	ORPHA:79282
HP:0001508	Failure to thrive	25974	MMACHC	OMIM:277400
HP:0001508	Failure to thrive	27249	MMADHC	ORPHA:79283
HP:0001508	Failure to thrive	5430	POLR2A	OMIM:618603
HP:0001508	Failure to thrive	1807	DPYS	OMIM:222748
HP:0001508	Failure to thrive	6223	RPS19	OMIM:105650
HP:0001508	Failure to thrive	2639	GCDH	OMIM:231670
HP:0001508	Failure to thrive	101929726	MYMX	OMIM:619941
HP:0001508	Failure to thrive	8803	SUCLA2	OMIM:612073
HP:0001508	Failure to thrive	92935	MARS2	OMIM:616430
HP:0001508	Failure to thrive	79587	CARS2	OMIM:616672
HP:0001508	Failure to thrive	7372	UMPS	OMIM:258900
HP:0001508	Failure to thrive	55753	OGDHL	OMIM:619701
HP:0001508	Failure to thrive	5052	PRDX1	OMIM:277400
HP:0001508	Failure to thrive	2582	GALE	OMIM:230350
HP:0001508	Failure to thrive	9896	FIG4	OMIM:216340
HP:0001508	Failure to thrive	9896	FIG4	ORPHA:3472
HP:0001508	Failure to thrive	10269	ZMPSTE24	ORPHA:740
HP:0001508	Failure to thrive	5631	PRPS1	ORPHA:423479
HP:0001508	Failure to thrive	55697	VAC14	ORPHA:3472
HP:0001508	Failure to thrive	55835	CPAP	OMIM:613676
HP:0001508	Failure to thrive	285175	UNC80	ORPHA:371364
HP:0001508	Failure to thrive	25914	RTTN	ORPHA:468631
HP:0001508	Failure to thrive	5191	PEX7	OMIM:215100
HP:0001508	Failure to thrive	90268	OTULIN	OMIM:617099
HP:0001508	Failure to thrive	7355	SLC35A2	ORPHA:356961
HP:0001508	Failure to thrive	5880	RAC2	OMIM:618987
HP:0001508	Failure to thrive	100033413	SNORD116-1	OMIM:176270
HP:0001508	Failure to thrive	8924	HERC2	OMIM:176270
HP:0001508	Failure to thrive	23742	NPAP1	OMIM:176270
HP:0001508	Failure to thrive	338433	SNORD115-1	OMIM:176270
HP:0001508	Failure to thrive	7681	MKRN3	OMIM:176270
HP:0001508	Failure to thrive	145624	PWAR1	OMIM:176270
HP:0001508	Failure to thrive	3653	IPW	OMIM:176270
HP:0001508	Failure to thrive	791114	PWRN1	OMIM:176270
HP:0001508	Failure to thrive	1729	DIAPH1	ORPHA:477814
HP:0001508	Failure to thrive	215	ABCD1	ORPHA:388
HP:0001508	Failure to thrive	2668	GDNF	ORPHA:388
HP:0001508	Failure to thrive	6608	SMO	ORPHA:388
HP:0001508	Failure to thrive	1889	ECE1	ORPHA:388
HP:0001508	Failure to thrive	6720	SREBF1	ORPHA:388
HP:0001508	Failure to thrive	1908	EDN3	ORPHA:388
HP:0001508	Failure to thrive	223117	SEMA3D	ORPHA:388
HP:0001508	Failure to thrive	538	ATP7A	ORPHA:388
HP:0001508	Failure to thrive	1910	EDNRB	ORPHA:388
HP:0001508	Failure to thrive	10512	SEMA3C	ORPHA:388
HP:0001508	Failure to thrive	2064	ERBB2	ORPHA:388
HP:0001508	Failure to thrive	2065	ERBB3	ORPHA:388
HP:0001508	Failure to thrive	4902	NRTN	ORPHA:388
HP:0001508	Failure to thrive	4056	LTC4S	OMIM:614037
HP:0001508	Failure to thrive	2314	FLII	ORPHA:819
HP:0001508	Failure to thrive	23096	IQSEC2	ORPHA:819
HP:0001508	Failure to thrive	10522	DEAF1	ORPHA:819
HP:0001508	Failure to thrive	2067	ERCC1	OMIM:610758
HP:0001508	Failure to thrive	56992	KIF15	ORPHA:261323
HP:0001508	Failure to thrive	1439	CSF2RB	ORPHA:264675
HP:0001508	Failure to thrive	7084	TK2	ORPHA:254875
HP:0001508	Failure to thrive	9401	RECQL4	ORPHA:1225
HP:0001508	Failure to thrive	26007	TKFC	OMIM:618805
HP:0001508	Failure to thrive	5605	MAP2K2	ORPHA:1340
HP:0001508	Failure to thrive	3431	SP110	ORPHA:79124
HP:0001508	Failure to thrive	83480	PUS3	ORPHA:488627
HP:0001508	Failure to thrive	9377	COX5A	OMIM:619064
HP:0001508	Failure to thrive	29968	PSAT1	ORPHA:284417
HP:0001508	Failure to thrive	5718	PSMD12	ORPHA:529962
HP:0001508	Failure to thrive	2186	BPTF	ORPHA:529962
HP:0001508	Failure to thrive	4697	NDUFA4	OMIM:619065
HP:0001508	Failure to thrive	833	CARS1	OMIM:618891
HP:0001508	Failure to thrive	23495	TNFRSF13B	ORPHA:1572
HP:0001508	Failure to thrive	4790	NFKB1	ORPHA:1572
HP:0001508	Failure to thrive	115650	TNFRSF13C	ORPHA:1572
HP:0001508	Failure to thrive	1380	CR2	ORPHA:1572
HP:0001508	Failure to thrive	8742	TNFSF12	ORPHA:1572
HP:0001508	Failure to thrive	930	CD19	ORPHA:1572
HP:0001508	Failure to thrive	29851	ICOS	ORPHA:1572
HP:0001508	Failure to thrive	931	MS4A1	ORPHA:1572
HP:0001508	Failure to thrive	975	CD81	ORPHA:1572
HP:0001508	Failure to thrive	359948	IRF2BP2	ORPHA:1572
HP:0001508	Failure to thrive	10043	TOM1	OMIM:619510
HP:0001508	Failure to thrive	157680	VPS13B	ORPHA:193
HP:0001508	Failure to thrive	3043	HBB	ORPHA:231214
HP:0001508	Failure to thrive	3043	HBB	ORPHA:231226
HP:0001508	Failure to thrive	5167	ENPP1	ORPHA:51608
HP:0001508	Failure to thrive	368	ABCC6	ORPHA:51608
HP:0001508	Failure to thrive	7461	CLIP2	ORPHA:904
HP:0001508	Failure to thrive	84277	DNAJC30	ORPHA:904
HP:0001508	Failure to thrive	8468	FKBP6	ORPHA:904
HP:0001508	Failure to thrive	5982	RFC2	ORPHA:904
HP:0001508	Failure to thrive	2969	GTF2I	ORPHA:904
HP:0001508	Failure to thrive	3984	LIMK1	ORPHA:904
HP:0001508	Failure to thrive	9569	GTF2IRD1	ORPHA:904
HP:0001508	Failure to thrive	155382	VPS37D	ORPHA:904
HP:0001508	Failure to thrive	155368	METTL27	ORPHA:904
HP:0001508	Failure to thrive	114049	BUD23	ORPHA:904
HP:0001508	Failure to thrive	7458	EIF4H	ORPHA:904
HP:0001508	Failure to thrive	84163	GTF2IRD2	ORPHA:904
HP:0001508	Failure to thrive	26608	TBL2	ORPHA:904
HP:0001508	Failure to thrive	653361	NCF1	ORPHA:904
HP:0001508	Failure to thrive	135886	TMEM270	ORPHA:904
HP:0001508	Failure to thrive	9031	BAZ1B	ORPHA:904
HP:0001508	Failure to thrive	2006	ELN	ORPHA:904
HP:0001508	Failure to thrive	2006	ELN	OMIM:194050
HP:0001508	Failure to thrive	3032	HADHB	ORPHA:746
HP:0001508	Failure to thrive	29926	GMPPA	ORPHA:869
HP:0001508	Failure to thrive	60684	TRAPPC11	ORPHA:869
HP:0001508	Failure to thrive	8086	AAAS	ORPHA:869
HP:0001508	Failure to thrive	8405	SPOP	OMIM:618829
HP:0001508	Failure to thrive	6340	SCNN1G	ORPHA:171876
HP:0001508	Failure to thrive	6338	SCNN1B	ORPHA:171876
HP:0001508	Failure to thrive	2222	FDFT1	OMIM:618156
HP:0001508	Failure to thrive	83737	ITCH	OMIM:613385
HP:0001508	Failure to thrive	83737	ITCH	ORPHA:228426
HP:0001508	Failure to thrive	3557	IL1RN	OMIM:612852
HP:0001508	Failure to thrive	51085	MLXIPL	OMIM:194050
HP:0001508	Failure to thrive	10463	SLC30A9	OMIM:617595
HP:0001508	Failure to thrive	64116	SLC39A8	ORPHA:468699
HP:0001508	Failure to thrive	6567	SLC16A2	ORPHA:59
HP:0001508	Failure to thrive	84842	HPDL	OMIM:619026
HP:0001508	Failure to thrive	56160	NSMCE3	OMIM:617241
HP:0001508	Failure to thrive	7043	TGFB3	OMIM:615582
HP:0001508	Failure to thrive	9276	COPB2	OMIM:617800
HP:0001508	Failure to thrive	4654	MYOD1	OMIM:618975
HP:0001508	Failure to thrive	78987	CRELD1	OMIM:620771
HP:0001508	Failure to thrive	5781	PTPN11	OMIM:163950
HP:0001508	Failure to thrive	916	CD3E	ORPHA:169160
HP:0008905	Rhizomelia	79848	CSPP1	ORPHA:397715
HP:0008905	Rhizomelia	9786	KIAA0586	ORPHA:397715
HP:0008905	Rhizomelia	6473	SHOX	OMIM:249700
HP:0008905	Rhizomelia	2263	FGFR2	OMIM:101200
HP:0008905	Rhizomelia	171023	ASXL1	OMIM:605039
HP:0008905	Rhizomelia	1718	DHCR24	OMIM:602398
HP:0008905	Rhizomelia	57539	WDR35	OMIM:613610
HP:0008905	Rhizomelia	57539	WDR35	ORPHA:1515
HP:0008905	Rhizomelia	145173	B3GLCT	ORPHA:709
HP:0008905	Rhizomelia	145173	B3GLCT	OMIM:261540
HP:0008905	Rhizomelia	10586	MAB21L2	OMIM:615877
HP:0008905	Rhizomelia	755	CFAP410	OMIM:602271
HP:0008905	Rhizomelia	1836	SLC26A2	ORPHA:56304
HP:0008905	Rhizomelia	1836	SLC26A2	ORPHA:93307
HP:0008905	Rhizomelia	8540	AGPS	OMIM:600121
HP:0008905	Rhizomelia	8200	GDF5	OMIM:228900
HP:0008905	Rhizomelia	8443	GNPAT	OMIM:222765
HP:0008905	Rhizomelia	2317	FLNB	ORPHA:1190
HP:0008905	Rhizomelia	2317	FLNB	OMIM:108721
HP:0008905	Rhizomelia	2317	FLNB	OMIM:108720
HP:0008905	Rhizomelia	8942	KYNU	OMIM:617661
HP:0008905	Rhizomelia	114803	MYSM1	OMIM:618116
HP:0008905	Rhizomelia	1717	DHCR7	ORPHA:818
HP:0008905	Rhizomelia	176	ACAN	OMIM:612813
HP:0008905	Rhizomelia	176	ACAN	ORPHA:171866
HP:0008905	Rhizomelia	112752	IFT43	ORPHA:1515
HP:0008905	Rhizomelia	112752	IFT43	OMIM:614099
HP:0008905	Rhizomelia	51098	IFT52	ORPHA:1515
HP:0008905	Rhizomelia	55764	IFT122	ORPHA:1515
HP:0008905	Rhizomelia	55764	IFT122	OMIM:218330
HP:0008905	Rhizomelia	57728	WDR19	ORPHA:1515
HP:0008905	Rhizomelia	57728	WDR19	OMIM:614376
HP:0008905	Rhizomelia	9382	COG1	OMIM:611209
HP:0008905	Rhizomelia	9382	COG1	ORPHA:263508
HP:0008905	Rhizomelia	54808	DYM	OMIM:223800
HP:0008905	Rhizomelia	54808	DYM	ORPHA:239
HP:0008905	Rhizomelia	6023	RMRP	ORPHA:175
HP:0008905	Rhizomelia	6023	RMRP	OMIM:607095
HP:0008905	Rhizomelia	9469	CHST3	ORPHA:263463
HP:0008905	Rhizomelia	9469	CHST3	OMIM:143095
HP:0008905	Rhizomelia	9469	CHST3	OMIM:245600
HP:0008905	Rhizomelia	10082	GPC6	OMIM:258315
HP:0008905	Rhizomelia	10082	GPC6	ORPHA:93329
HP:0008905	Rhizomelia	90993	CREB3L1	OMIM:616229
HP:0008905	Rhizomelia	5191	PEX7	OMIM:215100
HP:0008905	Rhizomelia	79087	ALG12	OMIM:607143
HP:0008905	Rhizomelia	2261	FGFR3	ORPHA:15
HP:0008905	Rhizomelia	2261	FGFR3	OMIM:616482
HP:0008905	Rhizomelia	2261	FGFR3	OMIM:100800
HP:0008905	Rhizomelia	1280	COL2A1	OMIM:156550
HP:0008905	Rhizomelia	1280	COL2A1	OMIM:151210
HP:0008905	Rhizomelia	372	ARCN1	OMIM:617164
HP:0008905	Rhizomelia	10013	HDAC6	OMIM:300863
HP:0008905	Rhizomelia	10013	HDAC6	ORPHA:163966
HP:0008905	Rhizomelia	5745	PTH1R	ORPHA:50945
HP:0008905	Rhizomelia	4297	KMT2A	ORPHA:319182
HP:0008905	Rhizomelia	1301	COL11A1	OMIM:228520
HP:0008905	Rhizomelia	1301	COL11A1	ORPHA:440354
HP:0008905	Rhizomelia	2475	MTOR	OMIM:616638
HP:0008905	Rhizomelia	3930	LBR	OMIM:618019
HP:0008905	Rhizomelia	3930	LBR	OMIM:215140
HP:0008905	Rhizomelia	3930	LBR	ORPHA:1426
HP:0008905	Rhizomelia	4322	MMP13	OMIM:602111
HP:0008905	Rhizomelia	64841	GNPNAT1	OMIM:619598
HP:0008905	Rhizomelia	5593	PRKG2	OMIM:619638
HP:0008905	Rhizomelia	5593	PRKG2	OMIM:619636
HP:0008905	Rhizomelia	91461	PKDCC	OMIM:618821
HP:0008905	Rhizomelia	4796	TONSL	ORPHA:93357
HP:0008905	Rhizomelia	4796	TONSL	OMIM:271510
HP:0008905	Rhizomelia	145258	GSC	OMIM:602471
HP:0008905	Rhizomelia	51360	MBTPS2	OMIM:301014
HP:0008905	Rhizomelia	79796	ALG9	ORPHA:79328
HP:0008905	Rhizomelia	3636	INPPL1	OMIM:258480
HP:0008905	Rhizomelia	5130	PCYT1A	ORPHA:85167
HP:0008905	Rhizomelia	5130	PCYT1A	OMIM:608940
HP:0008905	Rhizomelia	9702	CEP57	OMIM:614114
HP:0008905	Rhizomelia	2260	FGFR1	ORPHA:2645
HP:0008905	Rhizomelia	2260	FGFR1	OMIM:166250
HP:0008905	Rhizomelia	23387	SIK3	OMIM:618162
HP:0008905	Rhizomelia	153241	CEP120	OMIM:616300
HP:0008905	Rhizomelia	10491	CRTAP	OMIM:610682
HP:0008905	Rhizomelia	7474	WNT5A	OMIM:180700
HP:0008905	Rhizomelia	1855	DVL1	OMIM:180700
HP:0008905	Rhizomelia	10682	EBP	OMIM:302960
HP:0008905	Rhizomelia	1513	CTSK	ORPHA:763
HP:0008905	Rhizomelia	26229	B3GAT3	OMIM:245600
HP:0008905	Rhizomelia	6913	TBX15	OMIM:260660
HP:0008905	Rhizomelia	9742	IFT140	OMIM:266920
HP:0008905	Rhizomelia	81570	CLPB	OMIM:616271
HP:0008905	Rhizomelia	2535	FZD2	ORPHA:93328
HP:0008905	Rhizomelia	57560	IFT80	OMIM:611263
HP:0008905	Rhizomelia	25886	POC1A	OMIM:614813
HP:0008905	Rhizomelia	871	SERPINH1	OMIM:613848
HP:0008905	Rhizomelia	2879	GPX4	OMIM:250220
HP:0008855	Moderate postnatal growth retardation	6524	SLC5A2	ORPHA:69076
HP:0008857	Neonatal short-trunk short stature	3835	KIF22	ORPHA:93360
HP:0008857	Neonatal short-trunk short stature	1280	COL2A1	OMIM:183900
HP:0008857	Neonatal short-trunk short stature	2317	FLNB	ORPHA:1190
HP:0000845	Elevated circulating growth hormone concentration	5573	PRKAR1A	OMIM:160980
HP:0000845	Elevated circulating growth hormone concentration	5573	PRKAR1A	ORPHA:1359
HP:0000845	Elevated circulating growth hormone concentration	5373	PMM2	ORPHA:79318
HP:0000845	Elevated circulating growth hormone concentration	4221	MEN1	ORPHA:652
HP:0000845	Elevated circulating growth hormone concentration	4221	MEN1	OMIM:131100
HP:0000845	Elevated circulating growth hormone concentration	4221	MEN1	ORPHA:2965
HP:0000845	Elevated circulating growth hormone concentration	4221	MEN1	ORPHA:99725
HP:0000845	Elevated circulating growth hormone concentration	1027	CDKN1B	ORPHA:652
HP:0000845	Elevated circulating growth hormone concentration	1027	CDKN1B	OMIM:610755
HP:0000845	Elevated circulating growth hormone concentration	1027	CDKN1B	ORPHA:276152
HP:0000845	Elevated circulating growth hormone concentration	1026	CDKN1A	ORPHA:652
HP:0000845	Elevated circulating growth hormone concentration	1030	CDKN2B	ORPHA:652
HP:0000845	Elevated circulating growth hormone concentration	1031	CDKN2C	ORPHA:652
HP:0000845	Elevated circulating growth hormone concentration	2778	GNAS	OMIM:174800
HP:0000845	Elevated circulating growth hormone concentration	2778	GNAS	ORPHA:562
HP:0000845	Elevated circulating growth hormone concentration	2778	GNAS	OMIM:617686
HP:0000845	Elevated circulating growth hormone concentration	83550	GPR101	ORPHA:963
HP:0000845	Elevated circulating growth hormone concentration	83550	GPR101	OMIM:300943
HP:0000845	Elevated circulating growth hormone concentration	83550	GPR101	OMIM:300942
HP:0000845	Elevated circulating growth hormone concentration	9049	AIP	ORPHA:963
HP:0000845	Elevated circulating growth hormone concentration	9049	AIP	OMIM:102200
HP:0000845	Elevated circulating growth hormone concentration	9049	AIP	ORPHA:2965
HP:0000845	Elevated circulating growth hormone concentration	9049	AIP	ORPHA:99725
HP:0000845	Elevated circulating growth hormone concentration	3248	HPGD	ORPHA:2796
HP:0000845	Elevated circulating growth hormone concentration	6578	SLCO2A1	ORPHA:2796
HP:0000845	Elevated circulating growth hormone concentration	3767	KCNJ11	ORPHA:79644
HP:0000845	Elevated circulating growth hormone concentration	3479	IGF1	OMIM:608747
HP:0000845	Elevated circulating growth hormone concentration	64072	CDH23	ORPHA:91347
HP:0000845	Elevated circulating growth hormone concentration	64072	CDH23	ORPHA:2965
HP:0000845	Elevated circulating growth hormone concentration	50940	PDE11A	ORPHA:1359
HP:0005603	Numerous congenital melanocytic nevi	4893	NRAS	OMIM:249400
HP:0005600	Congenital giant melanocytic nevus	4893	NRAS	OMIM:137550
HP:0005600	Congenital giant melanocytic nevus	4893	NRAS	ORPHA:626
HP:0005600	Congenital giant melanocytic nevus	3265	HRAS	OMIM:137550
HP:0005600	Congenital giant melanocytic nevus	6660	SOX5	ORPHA:626
HP:0005600	Congenital giant melanocytic nevus	238	ALK	ORPHA:626
HP:0005600	Congenital giant melanocytic nevus	9839	ZEB2	ORPHA:626
HP:0005600	Congenital giant melanocytic nevus	673	BRAF	ORPHA:626
HP:0005600	Congenital giant melanocytic nevus	5894	RAF1	ORPHA:626
HP:0010900	Abnormal circulating threonine concentration	3000	GUCY2D	OMIM:204000
HP:0010900	Abnormal circulating threonine concentration	10165	SLC25A13	OMIM:605814
HP:0010900	Abnormal circulating threonine concentration	10165	SLC25A13	ORPHA:247598
HP:0010900	Abnormal circulating threonine concentration	55163	PNPO	ORPHA:79096
HP:0010901	Abnormal circulating methionine concentration	10165	SLC25A13	OMIM:605814
HP:0010901	Abnormal circulating methionine concentration	10165	SLC25A13	ORPHA:247598
HP:0010901	Abnormal circulating methionine concentration	132	ADK	OMIM:614300
HP:0010901	Abnormal circulating methionine concentration	875	CBS	OMIM:236200
HP:0010901	Abnormal circulating methionine concentration	4143	MAT1A	OMIM:250850
HP:0010901	Abnormal circulating methionine concentration	2184	FAH	OMIM:276700
HP:0010901	Abnormal circulating methionine concentration	27232	GNMT	OMIM:606664
HP:0010901	Abnormal circulating methionine concentration	9652	SKIC3	OMIM:222470
HP:0010901	Abnormal circulating methionine concentration	7019	TFAM	OMIM:617156
HP:0010901	Abnormal circulating methionine concentration	4552	MTRR	OMIM:236270
HP:0010901	Abnormal circulating methionine concentration	4552	MTRR	ORPHA:2169
HP:0010901	Abnormal circulating methionine concentration	25974	MMACHC	ORPHA:79282
HP:0010901	Abnormal circulating methionine concentration	25974	MMACHC	OMIM:277400
HP:0010901	Abnormal circulating methionine concentration	55788	LMBRD1	ORPHA:79284
HP:0010901	Abnormal circulating methionine concentration	4524	MTHFR	ORPHA:395
HP:0010901	Abnormal circulating methionine concentration	5826	ABCD4	OMIM:614857
HP:0010901	Abnormal circulating methionine concentration	4548	MTR	OMIM:250940
HP:0010901	Abnormal circulating methionine concentration	27249	MMADHC	OMIM:277410
HP:0010901	Abnormal circulating methionine concentration	5052	PRDX1	OMIM:277400
HP:0010901	Abnormal circulating methionine concentration	191	AHCY	ORPHA:88618
HP:0010902	Abnormal circulating glutamine family amino acid concentration	435	ASL	ORPHA:23
HP:0010902	Abnormal circulating glutamine family amino acid concentration	435	ASL	OMIM:207900
HP:0010902	Abnormal circulating glutamine family amino acid concentration	763	CA5A	OMIM:615751
HP:0010902	Abnormal circulating glutamine family amino acid concentration	5009	OTC	OMIM:311250
HP:0010902	Abnormal circulating glutamine family amino acid concentration	162417	NAGS	ORPHA:927
HP:0010902	Abnormal circulating glutamine family amino acid concentration	162417	NAGS	OMIM:237310
HP:0010902	Abnormal circulating glutamine family amino acid concentration	9056	SLC7A7	ORPHA:470
HP:0010902	Abnormal circulating glutamine family amino acid concentration	445	ASS1	OMIM:215700
HP:0010902	Abnormal circulating glutamine family amino acid concentration	51241	COX16	OMIM:619355
HP:0010902	Abnormal circulating glutamine family amino acid concentration	2744	GLS	OMIM:618412
HP:0010902	Abnormal circulating glutamine family amino acid concentration	51601	LIPT1	OMIM:616299
HP:0010902	Abnormal circulating glutamine family amino acid concentration	4982	TNFRSF11B	OMIM:239000
HP:0010902	Abnormal circulating glutamine family amino acid concentration	348932	SLC6A18	ORPHA:42062
HP:0010902	Abnormal circulating glutamine family amino acid concentration	153201	SLC36A2	ORPHA:42062
HP:0010902	Abnormal circulating glutamine family amino acid concentration	54716	SLC6A20	ORPHA:42062
HP:0010902	Abnormal circulating glutamine family amino acid concentration	340024	SLC6A19	ORPHA:42062
HP:0010902	Abnormal circulating glutamine family amino acid concentration	1373	CPS1	ORPHA:147
HP:0010902	Abnormal circulating glutamine family amino acid concentration	1373	CPS1	OMIM:237300
HP:0010902	Abnormal circulating glutamine family amino acid concentration	9377	COX5A	OMIM:619064
HP:0010902	Abnormal circulating glutamine family amino acid concentration	5625	PRODH	OMIM:600850
HP:0010902	Abnormal circulating glutamine family amino acid concentration	5625	PRODH	OMIM:239500
HP:0010902	Abnormal circulating glutamine family amino acid concentration	5625	PRODH	ORPHA:419
HP:0010902	Abnormal circulating glutamine family amino acid concentration	4718	NDUFC2	OMIM:619170
HP:0010902	Abnormal circulating glutamine family amino acid concentration	4716	NDUFB10	OMIM:619003
HP:0010902	Abnormal circulating glutamine family amino acid concentration	1352	COX10	OMIM:619046
HP:0010902	Abnormal circulating glutamine family amino acid concentration	498	ATP5F1A	OMIM:620358
HP:0010902	Abnormal circulating glutamine family amino acid concentration	8659	ALDH4A1	ORPHA:79101
HP:0010902	Abnormal circulating glutamine family amino acid concentration	8659	ALDH4A1	OMIM:239510
HP:0010902	Abnormal circulating glutamine family amino acid concentration	54704	PDP1	ORPHA:79246
HP:0010902	Abnormal circulating glutamine family amino acid concentration	79736	TEFM	OMIM:620451
HP:0010902	Abnormal circulating glutamine family amino acid concentration	80222	TARS2	OMIM:615918
HP:0010902	Abnormal circulating glutamine family amino acid concentration	6888	TALDO1	ORPHA:101028
HP:0010902	Abnormal circulating glutamine family amino acid concentration	10165	SLC25A13	ORPHA:247598
HP:0010902	Abnormal circulating glutamine family amino acid concentration	55163	PNPO	ORPHA:79096
HP:0010902	Abnormal circulating glutamine family amino acid concentration	5832	ALDH18A1	OMIM:219150
HP:0010902	Abnormal circulating glutamine family amino acid concentration	2752	GLUL	OMIM:610015
HP:0010902	Abnormal circulating glutamine family amino acid concentration	2752	GLUL	OMIM:620806
HP:0010902	Abnormal circulating glutamine family amino acid concentration	4190	MDH1	OMIM:618959
HP:0010902	Abnormal circulating glutamine family amino acid concentration	383	ARG1	OMIM:207800
HP:0010903	Abnormal circulating glutamine concentration	435	ASL	ORPHA:23
HP:0010903	Abnormal circulating glutamine concentration	435	ASL	OMIM:207900
HP:0010903	Abnormal circulating glutamine concentration	763	CA5A	OMIM:615751
HP:0010903	Abnormal circulating glutamine concentration	5009	OTC	OMIM:311250
HP:0010903	Abnormal circulating glutamine concentration	162417	NAGS	ORPHA:927
HP:0010903	Abnormal circulating glutamine concentration	162417	NAGS	OMIM:237310
HP:0010903	Abnormal circulating glutamine concentration	9056	SLC7A7	ORPHA:470
HP:0010903	Abnormal circulating glutamine concentration	445	ASS1	OMIM:215700
HP:0010903	Abnormal circulating glutamine concentration	51241	COX16	OMIM:619355
HP:0010903	Abnormal circulating glutamine concentration	2744	GLS	OMIM:618412
HP:0010903	Abnormal circulating glutamine concentration	51601	LIPT1	OMIM:616299
HP:0010903	Abnormal circulating glutamine concentration	6888	TALDO1	ORPHA:101028
HP:0010903	Abnormal circulating glutamine concentration	10165	SLC25A13	ORPHA:247598
HP:0010903	Abnormal circulating glutamine concentration	2752	GLUL	OMIM:610015
HP:0010903	Abnormal circulating glutamine concentration	2752	GLUL	OMIM:620806
HP:0010904	Abnormal circulating histidine concentration	55163	PNPO	ORPHA:79096
HP:0010904	Abnormal circulating histidine concentration	10841	FTCD	ORPHA:51208
HP:0010904	Abnormal circulating histidine concentration	131669	UROC1	ORPHA:210128
HP:0010904	Abnormal circulating histidine concentration	3034	HAL	OMIM:235800
HP:0010904	Abnormal circulating histidine concentration	3034	HAL	ORPHA:2157
HP:0002927	Histidinuria	3034	HAL	OMIM:235800
HP:0002927	Histidinuria	3034	HAL	ORPHA:2157
HP:0010906	Hyperhistidinemia	3034	HAL	OMIM:235800
HP:0010906	Hyperhistidinemia	3034	HAL	ORPHA:2157
HP:0010907	Abnormal circulating proline concentration	4982	TNFRSF11B	OMIM:239000
HP:0010907	Abnormal circulating proline concentration	348932	SLC6A18	ORPHA:42062
HP:0010907	Abnormal circulating proline concentration	153201	SLC36A2	ORPHA:42062
HP:0010907	Abnormal circulating proline concentration	54716	SLC6A20	ORPHA:42062
HP:0010907	Abnormal circulating proline concentration	340024	SLC6A19	ORPHA:42062
HP:0010907	Abnormal circulating proline concentration	9377	COX5A	OMIM:619064
HP:0010907	Abnormal circulating proline concentration	9056	SLC7A7	ORPHA:470
HP:0010907	Abnormal circulating proline concentration	5625	PRODH	OMIM:600850
HP:0010907	Abnormal circulating proline concentration	5625	PRODH	OMIM:239500
HP:0010907	Abnormal circulating proline concentration	5625	PRODH	ORPHA:419
HP:0010907	Abnormal circulating proline concentration	4718	NDUFC2	OMIM:619170
HP:0010907	Abnormal circulating proline concentration	4716	NDUFB10	OMIM:619003
HP:0010907	Abnormal circulating proline concentration	51241	COX16	OMIM:619355
HP:0010907	Abnormal circulating proline concentration	51601	LIPT1	OMIM:616299
HP:0010907	Abnormal circulating proline concentration	1352	COX10	OMIM:619046
HP:0010907	Abnormal circulating proline concentration	763	CA5A	OMIM:615751
HP:0010907	Abnormal circulating proline concentration	498	ATP5F1A	OMIM:620358
HP:0010907	Abnormal circulating proline concentration	8659	ALDH4A1	ORPHA:79101
HP:0010907	Abnormal circulating proline concentration	8659	ALDH4A1	OMIM:239510
HP:0010907	Abnormal circulating proline concentration	54704	PDP1	ORPHA:79246
HP:0010907	Abnormal circulating proline concentration	79736	TEFM	OMIM:620451
HP:0010907	Abnormal circulating proline concentration	80222	TARS2	OMIM:615918
HP:0010907	Abnormal circulating proline concentration	5832	ALDH18A1	OMIM:219150
HP:0010908	Abnormal circulating lysine concentration	10157	AASS	ORPHA:2203
HP:0010908	Abnormal circulating lysine concentration	10157	AASS	OMIM:238700
HP:0010908	Abnormal circulating lysine concentration	10157	AASS	ORPHA:3124
HP:0010908	Abnormal circulating lysine concentration	133686	NADK2	ORPHA:431361
HP:0010908	Abnormal circulating lysine concentration	133686	NADK2	OMIM:616034
HP:0010908	Abnormal circulating lysine concentration	10165	SLC25A13	OMIM:605814
HP:0010908	Abnormal circulating lysine concentration	10165	SLC25A13	ORPHA:247598
HP:0010908	Abnormal circulating lysine concentration	10367	MICU1	OMIM:615673
HP:0010908	Abnormal circulating lysine concentration	9056	SLC7A7	OMIM:222700
HP:0010909	Abnormal circulating arginine concentration	435	ASL	ORPHA:23
HP:0010909	Abnormal circulating arginine concentration	435	ASL	OMIM:207900
HP:0010909	Abnormal circulating arginine concentration	1373	CPS1	ORPHA:147
HP:0010909	Abnormal circulating arginine concentration	1373	CPS1	OMIM:237300
HP:0010909	Abnormal circulating arginine concentration	763	CA5A	OMIM:615751
HP:0010909	Abnormal circulating arginine concentration	5009	OTC	ORPHA:664
HP:0010909	Abnormal circulating arginine concentration	445	ASS1	OMIM:215700
HP:0010909	Abnormal circulating arginine concentration	498	ATP5F1A	OMIM:620358
HP:0010909	Abnormal circulating arginine concentration	5832	ALDH18A1	OMIM:219150
HP:0010909	Abnormal circulating arginine concentration	55163	PNPO	ORPHA:79096
HP:0010909	Abnormal circulating arginine concentration	10165	SLC25A13	ORPHA:247598
HP:0010909	Abnormal circulating arginine concentration	383	ARG1	OMIM:207800
HP:0034995	Reduced tissue fructose-1,6-bisphosphatase activity	2203	FBP1	OMIM:229700
HP:0001530	Mild postnatal growth retardation	6775	STAT4	ORPHA:85408
HP:0001530	Mild postnatal growth retardation	3560	IL2RB	ORPHA:85408
HP:0001530	Mild postnatal growth retardation	79722	ANKRD55	ORPHA:85408
HP:0001530	Mild postnatal growth retardation	26191	PTPN22	ORPHA:85408
HP:0001530	Mild postnatal growth retardation	919	CD247	ORPHA:85408
HP:0001530	Mild postnatal growth retardation	3559	IL2RA	ORPHA:85408
HP:0001530	Mild postnatal growth retardation	5771	PTPN2	ORPHA:85408
HP:0001530	Mild postnatal growth retardation	51651	PTRH2	ORPHA:456312
HP:0001530	Mild postnatal growth retardation	146059	CDAN1	OMIM:224120
HP:0001530	Mild postnatal growth retardation	7068	THRB	ORPHA:566243
HP:0001530	Mild postnatal growth retardation	1161	ERCC8	ORPHA:90324
HP:0001530	Mild postnatal growth retardation	2074	ERCC6	ORPHA:90324
HP:0001530	Mild postnatal growth retardation	9508	ADAMTS3	ORPHA:2136
HP:0001530	Mild postnatal growth retardation	147372	CCBE1	ORPHA:2136
HP:0001530	Mild postnatal growth retardation	147372	CCBE1	OMIM:235510
HP:0001530	Mild postnatal growth retardation	79633	FAT4	ORPHA:2136
HP:0001530	Mild postnatal growth retardation	3483	IGFALS	OMIM:615961
HP:0001530	Mild postnatal growth retardation	5573	PRKAR1A	OMIM:101800
HP:0001511	Intrauterine growth retardation	7528	YY1	ORPHA:506358
HP:0001511	Intrauterine growth retardation	7528	YY1	OMIM:617557
HP:0001511	Intrauterine growth retardation	3651	PDX1	OMIM:260370
HP:0001511	Intrauterine growth retardation	3651	PDX1	ORPHA:552
HP:0001511	Intrauterine growth retardation	3651	PDX1	ORPHA:99885
HP:0001511	Intrauterine growth retardation	2218	FKTN	ORPHA:272
HP:0001511	Intrauterine growth retardation	54539	NDUFB11	ORPHA:2609
HP:0001511	Intrauterine growth retardation	54539	NDUFB11	OMIM:301021
HP:0001511	Intrauterine growth retardation	25915	NDUFAF3	ORPHA:2609
HP:0001511	Intrauterine growth retardation	51103	NDUFAF1	ORPHA:2609
HP:0001511	Intrauterine growth retardation	91942	NDUFAF2	ORPHA:2609
HP:0001511	Intrauterine growth retardation	51300	TIMMDC1	ORPHA:2609
HP:0001511	Intrauterine growth retardation	4716	NDUFB10	ORPHA:2609
HP:0001511	Intrauterine growth retardation	4716	NDUFB10	OMIM:619003
HP:0001511	Intrauterine growth retardation	4723	NDUFV1	ORPHA:2609
HP:0001511	Intrauterine growth retardation	55572	FOXRED1	ORPHA:2609
HP:0001511	Intrauterine growth retardation	284184	NDUFAF8	ORPHA:2609
HP:0001511	Intrauterine growth retardation	284184	NDUFAF8	OMIM:618776
HP:0001511	Intrauterine growth retardation	55863	TMEM126B	ORPHA:2609
HP:0001511	Intrauterine growth retardation	4535	MT-ND1	ORPHA:2609
HP:0001511	Intrauterine growth retardation	4537	MT-ND3	ORPHA:2609
HP:0001511	Intrauterine growth retardation	4729	NDUFV2	ORPHA:2609
HP:0001511	Intrauterine growth retardation	4694	NDUFA1	ORPHA:2609
HP:0001511	Intrauterine growth retardation	4720	NDUFS2	ORPHA:2609
HP:0001511	Intrauterine growth retardation	4724	NDUFS4	ORPHA:2609
HP:0001511	Intrauterine growth retardation	4726	NDUFS6	ORPHA:2609
HP:0001511	Intrauterine growth retardation	4728	NDUFS8	ORPHA:2609
HP:0001511	Intrauterine growth retardation	4722	NDUFS3	ORPHA:2609
HP:0001511	Intrauterine growth retardation	79133	NDUFAF5	ORPHA:2609
HP:0001511	Intrauterine growth retardation	79133	NDUFAF5	OMIM:618238
HP:0001511	Intrauterine growth retardation	126328	NDUFA11	ORPHA:2609
HP:0001511	Intrauterine growth retardation	4709	NDUFB3	ORPHA:2609
HP:0001511	Intrauterine growth retardation	4709	NDUFB3	OMIM:618246
HP:0001511	Intrauterine growth retardation	80224	NUBPL	ORPHA:2609
HP:0001511	Intrauterine growth retardation	29078	NDUFAF4	ORPHA:2609
HP:0001511	Intrauterine growth retardation	29078	NDUFAF4	OMIM:618237
HP:0001511	Intrauterine growth retardation	374291	NDUFS7	ORPHA:2609
HP:0001511	Intrauterine growth retardation	4700	NDUFA6	ORPHA:2609
HP:0001511	Intrauterine growth retardation	4700	NDUFA6	OMIM:618253
HP:0001511	Intrauterine growth retardation	4536	MT-ND2	ORPHA:2609
HP:0001511	Intrauterine growth retardation	4719	NDUFS1	ORPHA:2609
HP:0001511	Intrauterine growth retardation	4715	NDUFB9	ORPHA:2609
HP:0001511	Intrauterine growth retardation	23019	CNOT1	OMIM:618500
HP:0001511	Intrauterine growth retardation	23019	CNOT1	ORPHA:556955
HP:0001511	Intrauterine growth retardation	23019	CNOT1	OMIM:619033
HP:0001511	Intrauterine growth retardation	5723	PSPH	OMIM:614023
HP:0001511	Intrauterine growth retardation	1763	DNA2	OMIM:620819
HP:0001511	Intrauterine growth retardation	1763	DNA2	ORPHA:808
HP:0001511	Intrauterine growth retardation	201595	STT3B	OMIM:615597
HP:0001511	Intrauterine growth retardation	201595	STT3B	ORPHA:370924
HP:0001511	Intrauterine growth retardation	60684	TRAPPC11	OMIM:615356
HP:0001511	Intrauterine growth retardation	9820	CUL7	ORPHA:2616
HP:0001511	Intrauterine growth retardation	9820	CUL7	OMIM:273750
HP:0001511	Intrauterine growth retardation	23363	OBSL1	ORPHA:2616
HP:0001511	Intrauterine growth retardation	23363	OBSL1	OMIM:612921
HP:0001511	Intrauterine growth retardation	83987	CCDC8	ORPHA:2616
HP:0001511	Intrauterine growth retardation	55627	SMPD4	OMIM:618622
HP:0001511	Intrauterine growth retardation	10973	ASCC3	OMIM:620700
HP:0001511	Intrauterine growth retardation	4897	NRCAM	OMIM:619833
HP:0001511	Intrauterine growth retardation	3703	STT3A	OMIM:619714
HP:0001511	Intrauterine growth retardation	84942	WDR73	OMIM:251300
HP:0001511	Intrauterine growth retardation	84942	WDR73	ORPHA:2065
HP:0001511	Intrauterine growth retardation	1736	DKC1	OMIM:305000
HP:0001511	Intrauterine growth retardation	1736	DKC1	ORPHA:3322
HP:0001511	Intrauterine growth retardation	1736	DKC1	ORPHA:1775
HP:0001511	Intrauterine growth retardation	5830	PEX5	OMIM:214110
HP:0001511	Intrauterine growth retardation	64220	STRA6	OMIM:601186
HP:0001511	Intrauterine growth retardation	64220	STRA6	ORPHA:2470
HP:0001511	Intrauterine growth retardation	1161	ERCC8	ORPHA:90322
HP:0001511	Intrauterine growth retardation	1161	ERCC8	OMIM:216400
HP:0001511	Intrauterine growth retardation	2067	ERCC1	ORPHA:90322
HP:0001511	Intrauterine growth retardation	2067	ERCC1	OMIM:610758
HP:0001511	Intrauterine growth retardation	2067	ERCC1	ORPHA:1466
HP:0001511	Intrauterine growth retardation	2074	ERCC6	ORPHA:90322
HP:0001511	Intrauterine growth retardation	2074	ERCC6	OMIM:133540
HP:0001511	Intrauterine growth retardation	2074	ERCC6	ORPHA:1466
HP:0001511	Intrauterine growth retardation	197131	UBR1	OMIM:243800
HP:0001511	Intrauterine growth retardation	197131	UBR1	ORPHA:2315
HP:0001511	Intrauterine growth retardation	617	BCS1L	OMIM:603358
HP:0001511	Intrauterine growth retardation	617	BCS1L	ORPHA:53693
HP:0001511	Intrauterine growth retardation	3481	IGF2	ORPHA:231144
HP:0001511	Intrauterine growth retardation	3481	IGF2	OMIM:180860
HP:0001511	Intrauterine growth retardation	3481	IGF2	ORPHA:397590
HP:0001511	Intrauterine growth retardation	283120	H19	ORPHA:231144
HP:0001511	Intrauterine growth retardation	2073	ERCC5	OMIM:616570
HP:0001511	Intrauterine growth retardation	2073	ERCC5	ORPHA:1466
HP:0001511	Intrauterine growth retardation	9578	CDC42BPB	OMIM:619841
HP:0001511	Intrauterine growth retardation	80816	ASXL3	OMIM:615485
HP:0001511	Intrauterine growth retardation	55159	RFWD3	OMIM:617784
HP:0001511	Intrauterine growth retardation	55159	RFWD3	ORPHA:84
HP:0001511	Intrauterine growth retardation	8239	USP9X	OMIM:300919
HP:0001511	Intrauterine growth retardation	1028	CDKN1C	ORPHA:436144
HP:0001511	Intrauterine growth retardation	1028	CDKN1C	ORPHA:85173
HP:0001511	Intrauterine growth retardation	1028	CDKN1C	OMIM:614732
HP:0001511	Intrauterine growth retardation	1028	CDKN1C	ORPHA:397590
HP:0001511	Intrauterine growth retardation	16	AARS1	OMIM:616339
HP:0001511	Intrauterine growth retardation	16	AARS1	ORPHA:33364
HP:0001511	Intrauterine growth retardation	9968	MED12	ORPHA:2728
HP:0001511	Intrauterine growth retardation	3508	IGHMBP2	OMIM:604320
HP:0001511	Intrauterine growth retardation	55636	CHD7	ORPHA:138
HP:0001511	Intrauterine growth retardation	9723	SEMA3E	ORPHA:138
HP:0001511	Intrauterine growth retardation	29957	SLC25A24	ORPHA:2963
HP:0001511	Intrauterine growth retardation	29957	SLC25A24	OMIM:612289
HP:0001511	Intrauterine growth retardation	2188	FANCF	OMIM:603467
HP:0001511	Intrauterine growth retardation	2188	FANCF	ORPHA:84
HP:0001511	Intrauterine growth retardation	2260	FGFR1	ORPHA:280200
HP:0001511	Intrauterine growth retardation	2260	FGFR1	ORPHA:2117
HP:0001511	Intrauterine growth retardation	28514	DLL1	ORPHA:280200
HP:0001511	Intrauterine growth retardation	2253	FGF8	ORPHA:280200
HP:0001511	Intrauterine growth retardation	6496	SIX3	ORPHA:280200
HP:0001511	Intrauterine growth retardation	7050	TGIF1	ORPHA:280200
HP:0001511	Intrauterine growth retardation	4838	NODAL	ORPHA:280200
HP:0001511	Intrauterine growth retardation	4838	NODAL	OMIM:270100
HP:0001511	Intrauterine growth retardation	6469	SHH	ORPHA:280200
HP:0001511	Intrauterine growth retardation	51684	SUFU	ORPHA:280200
HP:0001511	Intrauterine growth retardation	7546	ZIC2	ORPHA:280200
HP:0001511	Intrauterine growth retardation	2619	GAS1	ORPHA:280200
HP:0001511	Intrauterine growth retardation	84976	DISP1	ORPHA:280200
HP:0001511	Intrauterine growth retardation	2736	GLI2	ORPHA:280200
HP:0001511	Intrauterine growth retardation	8928	FOXH1	ORPHA:280200
HP:0001511	Intrauterine growth retardation	6997	CRIPTO	ORPHA:280200
HP:0001511	Intrauterine growth retardation	5727	PTCH1	ORPHA:280200
HP:0001511	Intrauterine growth retardation	50937	CDON	ORPHA:280200
HP:0001511	Intrauterine growth retardation	9698	PUM1	OMIM:620719
HP:0001511	Intrauterine growth retardation	103	ADAR	OMIM:615010
HP:0001511	Intrauterine growth retardation	25885	POLR1A	OMIM:616462
HP:0001511	Intrauterine growth retardation	9692	PRORP	OMIM:619737
HP:0001511	Intrauterine growth retardation	23545	ATP6V0A2	ORPHA:2834
HP:0001511	Intrauterine growth retardation	23545	ATP6V0A2	OMIM:278250
HP:0001511	Intrauterine growth retardation	23545	ATP6V0A2	OMIM:219200
HP:0001511	Intrauterine growth retardation	23545	ATP6V0A2	ORPHA:357074
HP:0001511	Intrauterine growth retardation	5155	PDGFB	ORPHA:1980
HP:0001511	Intrauterine growth retardation	9213	XPR1	ORPHA:1980
HP:0001511	Intrauterine growth retardation	5159	PDGFRB	ORPHA:1980
HP:0001511	Intrauterine growth retardation	57462	MYORG	ORPHA:1980
HP:0001511	Intrauterine growth retardation	6575	SLC20A2	ORPHA:1980
HP:0001511	Intrauterine growth retardation	58494	JAM2	ORPHA:1980
HP:0001511	Intrauterine growth retardation	23184	MESD	OMIM:618644
HP:0001511	Intrauterine growth retardation	2626	GATA4	ORPHA:251071
HP:0001511	Intrauterine growth retardation	2626	GATA4	ORPHA:3303
HP:0001511	Intrauterine growth retardation	7020	TFAP2A	OMIM:113620
HP:0001511	Intrauterine growth retardation	7020	TFAP2A	ORPHA:1297
HP:0001511	Intrauterine growth retardation	5566	PRKACA	ORPHA:289
HP:0001511	Intrauterine growth retardation	5567	PRKACB	ORPHA:289
HP:0001511	Intrauterine growth retardation	2735	GLI1	ORPHA:289
HP:0001511	Intrauterine growth retardation	2121	EVC	ORPHA:289
HP:0001511	Intrauterine growth retardation	51626	DYNC2LI1	ORPHA:289
HP:0001511	Intrauterine growth retardation	132884	EVC2	ORPHA:289
HP:0001511	Intrauterine growth retardation	171023	ASXL1	ORPHA:97297
HP:0001511	Intrauterine growth retardation	171023	ASXL1	OMIM:605039
HP:0001511	Intrauterine growth retardation	10815	CPLX1	ORPHA:280
HP:0001511	Intrauterine growth retardation	10815	CPLX1	OMIM:194190
HP:0001511	Intrauterine growth retardation	54872	PIGG	ORPHA:280
HP:0001511	Intrauterine growth retardation	54872	PIGG	ORPHA:488635
HP:0001511	Intrauterine growth retardation	54872	PIGG	OMIM:616917
HP:0001511	Intrauterine growth retardation	7469	NELFA	ORPHA:280
HP:0001511	Intrauterine growth retardation	1487	CTBP1	ORPHA:280
HP:0001511	Intrauterine growth retardation	1487	CTBP1	OMIM:194190
HP:0001511	Intrauterine growth retardation	3954	LETM1	ORPHA:280
HP:0001511	Intrauterine growth retardation	3954	LETM1	OMIM:194190
HP:0001511	Intrauterine growth retardation	7468	NSD2	ORPHA:280
HP:0001511	Intrauterine growth retardation	7468	NSD2	OMIM:619695
HP:0001511	Intrauterine growth retardation	7468	NSD2	OMIM:194190
HP:0001511	Intrauterine growth retardation	22872	SEC31A	OMIM:618651
HP:0001511	Intrauterine growth retardation	54968	TMEM70	OMIM:614052
HP:0001511	Intrauterine growth retardation	54968	TMEM70	ORPHA:1194
HP:0001511	Intrauterine growth retardation	1501	CTNND2	ORPHA:281
HP:0001511	Intrauterine growth retardation	9037	SEMA5A	ORPHA:281
HP:0001511	Intrauterine growth retardation	7386	UQCRFS1	OMIM:618775
HP:0001511	Intrauterine growth retardation	5528	PPP2R5D	OMIM:616355
HP:0001511	Intrauterine growth retardation	4297	KMT2A	ORPHA:319182
HP:0001511	Intrauterine growth retardation	4297	KMT2A	OMIM:605130
HP:0001511	Intrauterine growth retardation	4174	MCM5	OMIM:617564
HP:0001511	Intrauterine growth retardation	5073	PARN	OMIM:616353
HP:0001511	Intrauterine growth retardation	5073	PARN	ORPHA:3322
HP:0001511	Intrauterine growth retardation	5073	PARN	ORPHA:1775
HP:0001511	Intrauterine growth retardation	833	CARS1	OMIM:618891
HP:0001511	Intrauterine growth retardation	833	CARS1	ORPHA:33364
HP:0001511	Intrauterine growth retardation	26834	RNU4-2	OMIM:620851
HP:0001511	Intrauterine growth retardation	8241	RBM10	OMIM:311900
HP:0001511	Intrauterine growth retardation	8241	RBM10	ORPHA:2886
HP:0001511	Intrauterine growth retardation	3981	LIG4	ORPHA:235
HP:0001511	Intrauterine growth retardation	54888	NSUN2	ORPHA:235
HP:0001511	Intrauterine growth retardation	1186	CLCN7	OMIM:618541
HP:0001511	Intrauterine growth retardation	3572	IL6ST	OMIM:619751
HP:0001511	Intrauterine growth retardation	7862	BRPF1	OMIM:617333
HP:0001511	Intrauterine growth retardation	23126	POGZ	OMIM:616364
HP:0001511	Intrauterine growth retardation	54914	FOCAD	OMIM:619991
HP:0001511	Intrauterine growth retardation	8558	CDK10	OMIM:617694
HP:0001511	Intrauterine growth retardation	51633	OTUD6B	OMIM:617452
HP:0001511	Intrauterine growth retardation	51633	OTUD6B	ORPHA:505237
HP:0001511	Intrauterine growth retardation	148867	SLC30A7	OMIM:620501
HP:0001511	Intrauterine growth retardation	150468	CKAP2L	OMIM:272440
HP:0001511	Intrauterine growth retardation	150468	CKAP2L	ORPHA:3255
HP:0001511	Intrauterine growth retardation	1859	DYRK1A	ORPHA:464311
HP:0001511	Intrauterine growth retardation	1859	DYRK1A	ORPHA:268261
HP:0001511	Intrauterine growth retardation	1859	DYRK1A	OMIM:614104
HP:0001511	Intrauterine growth retardation	93986	FOXP2	ORPHA:251061
HP:0001511	Intrauterine growth retardation	79991	STN1	OMIM:617341
HP:0001511	Intrauterine growth retardation	7750	ZMYM2	OMIM:619522
HP:0001511	Intrauterine growth retardation	3800	KIF5C	OMIM:615282
HP:0001511	Intrauterine growth retardation	59336	PRDM13	OMIM:619761
HP:0001511	Intrauterine growth retardation	59336	PRDM13	OMIM:619909
HP:0001511	Intrauterine growth retardation	50485	SMARCAL1	ORPHA:1830
HP:0001511	Intrauterine growth retardation	50485	SMARCAL1	OMIM:242900
HP:0001511	Intrauterine growth retardation	9928	KIF14	OMIM:616258
HP:0001511	Intrauterine growth retardation	9928	KIF14	OMIM:617914
HP:0001511	Intrauterine growth retardation	641	BLM	OMIM:210900
HP:0001511	Intrauterine growth retardation	641	BLM	ORPHA:125
HP:0001511	Intrauterine growth retardation	22	ABCB7	ORPHA:2802
HP:0001511	Intrauterine growth retardation	22	ABCB7	OMIM:301310
HP:0001511	Intrauterine growth retardation	51163	DBR1	OMIM:620510
HP:0001511	Intrauterine growth retardation	51163	DBR1	OMIM:619441
HP:0001511	Intrauterine growth retardation	124583	CANT1	OMIM:251450
HP:0001511	Intrauterine growth retardation	56975	FAM20C	ORPHA:1832
HP:0001511	Intrauterine growth retardation	675	BRCA2	OMIM:605724
HP:0001511	Intrauterine growth retardation	675	BRCA2	ORPHA:84
HP:0001511	Intrauterine growth retardation	55120	FANCL	OMIM:614083
HP:0001511	Intrauterine growth retardation	55120	FANCL	ORPHA:84
HP:0001511	Intrauterine growth retardation	23483	TGDS	OMIM:616145
HP:0001511	Intrauterine growth retardation	10463	SLC30A9	OMIM:617595
HP:0001511	Intrauterine growth retardation	7994	KAT6A	OMIM:616268
HP:0001511	Intrauterine growth retardation	2006	ELN	ORPHA:90348
HP:0001511	Intrauterine growth retardation	2006	ELN	OMIM:194050
HP:0001511	Intrauterine growth retardation	10516	FBLN5	ORPHA:90348
HP:0001511	Intrauterine growth retardation	10516	FBLN5	ORPHA:90349
HP:0001511	Intrauterine growth retardation	5832	ALDH18A1	ORPHA:90348
HP:0001511	Intrauterine growth retardation	5832	ALDH18A1	OMIM:219150
HP:0001511	Intrauterine growth retardation	5832	ALDH18A1	OMIM:616603
HP:0001511	Intrauterine growth retardation	25836	NIPBL	OMIM:122470
HP:0001511	Intrauterine growth retardation	25836	NIPBL	ORPHA:199
HP:0001511	Intrauterine growth retardation	2720	GLB1	OMIM:230500
HP:0001511	Intrauterine growth retardation	2720	GLB1	ORPHA:79255
HP:0001511	Intrauterine growth retardation	4052	LTBP1	ORPHA:90349
HP:0001511	Intrauterine growth retardation	30008	EFEMP2	ORPHA:90349
HP:0001511	Intrauterine growth retardation	85459	CEP295	OMIM:620767
HP:0001511	Intrauterine growth retardation	4733	DRG1	OMIM:620641
HP:0001511	Intrauterine growth retardation	404672	GTF2H5	ORPHA:33364
HP:0001511	Intrauterine growth retardation	404672	GTF2H5	OMIM:616395
HP:0001511	Intrauterine growth retardation	2068	ERCC2	ORPHA:33364
HP:0001511	Intrauterine growth retardation	2068	ERCC2	OMIM:610756
HP:0001511	Intrauterine growth retardation	2068	ERCC2	ORPHA:1466
HP:0001511	Intrauterine growth retardation	7737	RNF113A	ORPHA:33364
HP:0001511	Intrauterine growth retardation	7737	RNF113A	OMIM:300953
HP:0001511	Intrauterine growth retardation	136647	MPLKIP	ORPHA:33364
HP:0001511	Intrauterine growth retardation	6897	TARS1	ORPHA:33364
HP:0001511	Intrauterine growth retardation	2071	ERCC3	ORPHA:33364
HP:0001511	Intrauterine growth retardation	2961	GTF2E2	ORPHA:33364
HP:0001511	Intrauterine growth retardation	54361	WNT4	OMIM:611812
HP:0001511	Intrauterine growth retardation	2778	GNAS	ORPHA:79445
HP:0001511	Intrauterine growth retardation	79087	ALG12	ORPHA:79324
HP:0001511	Intrauterine growth retardation	79053	ALG8	ORPHA:79325
HP:0001511	Intrauterine growth retardation	79053	ALG8	OMIM:608104
HP:0001511	Intrauterine growth retardation	9896	FIG4	OMIM:216340
HP:0001511	Intrauterine growth retardation	6595	SMARCA2	OMIM:601358
HP:0001511	Intrauterine growth retardation	81570	CLPB	OMIM:616271
HP:0001511	Intrauterine growth retardation	54903	MKS1	OMIM:249000
HP:0001511	Intrauterine growth retardation	8621	CDK13	OMIM:617360
HP:0001511	Intrauterine growth retardation	54101	RIPK4	OMIM:263650
HP:0001511	Intrauterine growth retardation	60529	ALX4	ORPHA:228390
HP:0001511	Intrauterine growth retardation	60529	ALX4	OMIM:613451
HP:0001511	Intrauterine growth retardation	51117	COQ4	OMIM:616276
HP:0001511	Intrauterine growth retardation	133686	NADK2	OMIM:616034
HP:0001511	Intrauterine growth retardation	29968	PSAT1	OMIM:616038
HP:0001511	Intrauterine growth retardation	29968	PSAT1	ORPHA:284417
HP:0001511	Intrauterine growth retardation	5426	POLE	OMIM:618336
HP:0001511	Intrauterine growth retardation	5426	POLE	ORPHA:85173
HP:0001511	Intrauterine growth retardation	9900	SV2A	OMIM:620772
HP:0001511	Intrauterine growth retardation	3767	KCNJ11	ORPHA:552
HP:0001511	Intrauterine growth retardation	3767	KCNJ11	ORPHA:99885
HP:0001511	Intrauterine growth retardation	3767	KCNJ11	ORPHA:99886
HP:0001511	Intrauterine growth retardation	8462	KLF11	ORPHA:552
HP:0001511	Intrauterine growth retardation	2645	GCK	ORPHA:552
HP:0001511	Intrauterine growth retardation	2645	GCK	ORPHA:99885
HP:0001511	Intrauterine growth retardation	2645	GCK	OMIM:606176
HP:0001511	Intrauterine growth retardation	26060	APPL1	ORPHA:552
HP:0001511	Intrauterine growth retardation	640	BLK	ORPHA:552
HP:0001511	Intrauterine growth retardation	1056	CEL	ORPHA:552
HP:0001511	Intrauterine growth retardation	4760	NEUROD1	ORPHA:552
HP:0001511	Intrauterine growth retardation	6833	ABCC8	ORPHA:552
HP:0001511	Intrauterine growth retardation	6833	ABCC8	ORPHA:99885
HP:0001511	Intrauterine growth retardation	6833	ABCC8	ORPHA:99886
HP:0001511	Intrauterine growth retardation	5078	PAX4	ORPHA:552
HP:0001511	Intrauterine growth retardation	3172	HNF4A	ORPHA:552
HP:0001511	Intrauterine growth retardation	6927	HNF1A	ORPHA:552
HP:0001511	Intrauterine growth retardation	3630	INS	ORPHA:552
HP:0001511	Intrauterine growth retardation	3630	INS	ORPHA:99885
HP:0001511	Intrauterine growth retardation	3630	INS	OMIM:613370
HP:0001511	Intrauterine growth retardation	3480	IGF1R	ORPHA:73273
HP:0001511	Intrauterine growth retardation	3480	IGF1R	OMIM:270450
HP:0001511	Intrauterine growth retardation	2737	GLI3	ORPHA:672
HP:0001511	Intrauterine growth retardation	2737	GLI3	OMIM:146510
HP:0001511	Intrauterine growth retardation	3479	IGF1	ORPHA:73272
HP:0001511	Intrauterine growth retardation	3479	IGF1	OMIM:608747
HP:0001511	Intrauterine growth retardation	388015	RTL1	ORPHA:254531
HP:0001511	Intrauterine growth retardation	388015	RTL1	ORPHA:254525
HP:0001511	Intrauterine growth retardation	388015	RTL1	ORPHA:254528
HP:0001511	Intrauterine growth retardation	388015	RTL1	ORPHA:96184
HP:0001511	Intrauterine growth retardation	388015	RTL1	ORPHA:96334
HP:0001511	Intrauterine growth retardation	8788	DLK1	ORPHA:254531
HP:0001511	Intrauterine growth retardation	8788	DLK1	ORPHA:254525
HP:0001511	Intrauterine growth retardation	8788	DLK1	ORPHA:254528
HP:0001511	Intrauterine growth retardation	8788	DLK1	ORPHA:96184
HP:0001511	Intrauterine growth retardation	8788	DLK1	ORPHA:96334
HP:0001511	Intrauterine growth retardation	55384	MEG3	ORPHA:254531
HP:0001511	Intrauterine growth retardation	55384	MEG3	ORPHA:254525
HP:0001511	Intrauterine growth retardation	55384	MEG3	ORPHA:254528
HP:0001511	Intrauterine growth retardation	55384	MEG3	ORPHA:96184
HP:0001511	Intrauterine growth retardation	55384	MEG3	ORPHA:96334
HP:0001511	Intrauterine growth retardation	26277	TINF2	OMIM:268130
HP:0001511	Intrauterine growth retardation	26277	TINF2	OMIM:613990
HP:0001511	Intrauterine growth retardation	26277	TINF2	ORPHA:3322
HP:0001511	Intrauterine growth retardation	26277	TINF2	ORPHA:1775
HP:0001511	Intrauterine growth retardation	51750	RTEL1	OMIM:615190
HP:0001511	Intrauterine growth retardation	51750	RTEL1	ORPHA:3322
HP:0001511	Intrauterine growth retardation	51750	RTEL1	ORPHA:1775
HP:0001511	Intrauterine growth retardation	6134	RPL10	OMIM:300998
HP:0001511	Intrauterine growth retardation	79879	CCDC134	OMIM:619795
HP:0001511	Intrauterine growth retardation	10466	COG5	ORPHA:263487
HP:0001511	Intrauterine growth retardation	10785	WDR4	OMIM:618346
HP:0001511	Intrauterine growth retardation	10785	WDR4	OMIM:618347
HP:0001511	Intrauterine growth retardation	10785	WDR4	ORPHA:2065
HP:0001511	Intrauterine growth retardation	54892	NCAPG2	OMIM:618460
HP:0001511	Intrauterine growth retardation	498	ATP5F1A	OMIM:616045
HP:0001511	Intrauterine growth retardation	4000	LMNA	OMIM:619793
HP:0001511	Intrauterine growth retardation	4000	LMNA	ORPHA:1662
HP:0001511	Intrauterine growth retardation	2187	FANCB	OMIM:300514
HP:0001511	Intrauterine growth retardation	2187	FANCB	ORPHA:84
HP:0001511	Intrauterine growth retardation	2187	FANCB	ORPHA:3412
HP:0001511	Intrauterine growth retardation	54973	INTS11	OMIM:620428
HP:0001511	Intrauterine growth retardation	85476	GFM1	OMIM:609060
HP:0001511	Intrauterine growth retardation	2355	FOSL2	OMIM:620789
HP:0001511	Intrauterine growth retardation	100151683	RNU4ATAC	ORPHA:353298
HP:0001511	Intrauterine growth retardation	100151683	RNU4ATAC	OMIM:226960
HP:0001511	Intrauterine growth retardation	100151683	RNU4ATAC	OMIM:210710
HP:0001511	Intrauterine growth retardation	100151683	RNU4ATAC	OMIM:616651
HP:0001511	Intrauterine growth retardation	100151683	RNU4ATAC	ORPHA:2636
HP:0001511	Intrauterine growth retardation	10102	TSFM	OMIM:610505
HP:0001511	Intrauterine growth retardation	100033413	SNORD116-1	OMIM:176270
HP:0001511	Intrauterine growth retardation	8924	HERC2	OMIM:176270
HP:0001511	Intrauterine growth retardation	23742	NPAP1	OMIM:176270
HP:0001511	Intrauterine growth retardation	338433	SNORD115-1	OMIM:176270
HP:0001511	Intrauterine growth retardation	54551	MAGEL2	OMIM:176270
HP:0001511	Intrauterine growth retardation	54551	MAGEL2	ORPHA:994
HP:0001511	Intrauterine growth retardation	7681	MKRN3	OMIM:176270
HP:0001511	Intrauterine growth retardation	145624	PWAR1	OMIM:176270
HP:0001511	Intrauterine growth retardation	3653	IPW	OMIM:176270
HP:0001511	Intrauterine growth retardation	791114	PWRN1	OMIM:176270
HP:0001511	Intrauterine growth retardation	2627	GATA6	OMIM:600001
HP:0001511	Intrauterine growth retardation	2627	GATA6	ORPHA:2255
HP:0001511	Intrauterine growth retardation	2627	GATA6	ORPHA:3303
HP:0001511	Intrauterine growth retardation	5631	PRPS1	ORPHA:423479
HP:0001511	Intrauterine growth retardation	10733	PLK4	OMIM:616171
HP:0001511	Intrauterine growth retardation	10733	PLK4	ORPHA:808
HP:0001511	Intrauterine growth retardation	10733	PLK4	ORPHA:2518
HP:0001511	Intrauterine growth retardation	91754	NEK9	OMIM:617022
HP:0001511	Intrauterine growth retardation	221496	LEMD2	OMIM:619322
HP:0001511	Intrauterine growth retardation	23395	LARS2	OMIM:617021
HP:0001511	Intrauterine growth retardation	1062	CENPE	OMIM:616051
HP:0001511	Intrauterine growth retardation	1062	CENPE	ORPHA:808
HP:0001511	Intrauterine growth retardation	6651	SON	OMIM:617140
HP:0001511	Intrauterine growth retardation	6651	SON	ORPHA:500150
HP:0001511	Intrauterine growth retardation	5649	RELN	ORPHA:89844
HP:0001511	Intrauterine growth retardation	10300	KATNB1	ORPHA:89844
HP:0001511	Intrauterine growth retardation	54820	NDE1	ORPHA:89844
HP:0001511	Intrauterine growth retardation	54820	NDE1	ORPHA:2177
HP:0001511	Intrauterine growth retardation	8882	ZPR1	OMIM:619321
HP:0001511	Intrauterine growth retardation	55215	FANCI	OMIM:609053
HP:0001511	Intrauterine growth retardation	55215	FANCI	ORPHA:84
HP:0001511	Intrauterine growth retardation	83990	BRIP1	OMIM:609054
HP:0001511	Intrauterine growth retardation	83990	BRIP1	ORPHA:84
HP:0001511	Intrauterine growth retardation	2033	EP300	ORPHA:353284
HP:0001511	Intrauterine growth retardation	6774	STAT3	ORPHA:99885
HP:0001511	Intrauterine growth retardation	346171	ZFP57	ORPHA:99886
HP:0001511	Intrauterine growth retardation	346171	ZFP57	OMIM:601410
HP:0001511	Intrauterine growth retardation	57061	HYMAI	ORPHA:99886
HP:0001511	Intrauterine growth retardation	57061	HYMAI	ORPHA:96191
HP:0001511	Intrauterine growth retardation	57061	HYMAI	OMIM:601410
HP:0001511	Intrauterine growth retardation	5325	PLAGL1	ORPHA:99886
HP:0001511	Intrauterine growth retardation	5325	PLAGL1	ORPHA:96191
HP:0001511	Intrauterine growth retardation	79068	FTO	OMIM:612938
HP:0001511	Intrauterine growth retardation	3417	IDH1	ORPHA:99646
HP:0001511	Intrauterine growth retardation	473	RERE	ORPHA:494344
HP:0001511	Intrauterine growth retardation	473	RERE	OMIM:616975
HP:0001511	Intrauterine growth retardation	10940	POP1	OMIM:617396
HP:0001511	Intrauterine growth retardation	84340	GFM2	ORPHA:565624
HP:0001511	Intrauterine growth retardation	84340	GFM2	OMIM:618397
HP:0001511	Intrauterine growth retardation	63925	ZNF335	OMIM:615095
HP:0001511	Intrauterine growth retardation	2530	FUT8	OMIM:618005
HP:0001511	Intrauterine growth retardation	2334	AFF2	OMIM:309548
HP:0001511	Intrauterine growth retardation	2334	AFF2	ORPHA:100973
HP:0001511	Intrauterine growth retardation	4998	ORC1	OMIM:224690
HP:0001511	Intrauterine growth retardation	4998	ORC1	ORPHA:2554
HP:0001511	Intrauterine growth retardation	54496	PRMT7	OMIM:617157
HP:0001511	Intrauterine growth retardation	50619	DEF6	OMIM:619573
HP:0001511	Intrauterine growth retardation	7019	TFAM	OMIM:617156
HP:0001511	Intrauterine growth retardation	8260	NAA10	OMIM:300855
HP:0001511	Intrauterine growth retardation	3643	INSR	OMIM:246200
HP:0001511	Intrauterine growth retardation	3643	INSR	ORPHA:769
HP:0001511	Intrauterine growth retardation	4705	NDUFA10	OMIM:618243
HP:0001511	Intrauterine growth retardation	5831	PYCR1	OMIM:612940
HP:0001511	Intrauterine growth retardation	5831	PYCR1	OMIM:614438
HP:0001511	Intrauterine growth retardation	23476	BRD4	OMIM:620568
HP:0001511	Intrauterine growth retardation	23476	BRD4	ORPHA:199
HP:0001511	Intrauterine growth retardation	11080	DNAJB4	OMIM:620326
HP:0001511	Intrauterine growth retardation	400569	MED11	OMIM:620327
HP:0001511	Intrauterine growth retardation	3376	IARS1	ORPHA:541423
HP:0001511	Intrauterine growth retardation	3376	IARS1	OMIM:617093
HP:0001511	Intrauterine growth retardation	3183	HNRNPC	OMIM:620688
HP:0001511	Intrauterine growth retardation	10092	ARPC5	OMIM:620565
HP:0001511	Intrauterine growth retardation	1312	COMT	ORPHA:567
HP:0001511	Intrauterine growth retardation	221037	JMJD1C	ORPHA:567
HP:0001511	Intrauterine growth retardation	2812	GP1BB	ORPHA:567
HP:0001511	Intrauterine growth retardation	6239	RREB1	ORPHA:567
HP:0001511	Intrauterine growth retardation	6899	TBX1	ORPHA:567
HP:0001511	Intrauterine growth retardation	6899	TBX1	ORPHA:3384
HP:0001511	Intrauterine growth retardation	6899	TBX1	ORPHA:3303
HP:0001511	Intrauterine growth retardation	7290	HIRA	ORPHA:567
HP:0001511	Intrauterine growth retardation	9632	SEC24C	ORPHA:567
HP:0001511	Intrauterine growth retardation	7353	UFD1	ORPHA:567
HP:0001511	Intrauterine growth retardation	421	ARVCF	ORPHA:567
HP:0001511	Intrauterine growth retardation	3291	HSD11B2	ORPHA:320
HP:0001511	Intrauterine growth retardation	22827	PUF60	ORPHA:508488
HP:0001511	Intrauterine growth retardation	22827	PUF60	OMIM:615583
HP:0001511	Intrauterine growth retardation	538	ATP7A	ORPHA:565
HP:0001511	Intrauterine growth retardation	538	ATP7A	OMIM:309400
HP:0001511	Intrauterine growth retardation	7703	PCGF2	OMIM:618371
HP:0001511	Intrauterine growth retardation	6045	RNF2	OMIM:619460
HP:0001511	Intrauterine growth retardation	9496	TBX4	ORPHA:261279
HP:0001511	Intrauterine growth retardation	8091	HMGA2	ORPHA:94063
HP:0001511	Intrauterine growth retardation	8091	HMGA2	ORPHA:397590
HP:0001511	Intrauterine growth retardation	8091	HMGA2	OMIM:618908
HP:0001511	Intrauterine growth retardation	23592	LEMD3	ORPHA:94063
HP:0001511	Intrauterine growth retardation	372	ARCN1	OMIM:617164
HP:0001511	Intrauterine growth retardation	10013	HDAC6	OMIM:300863
HP:0001511	Intrauterine growth retardation	10013	HDAC6	ORPHA:163966
HP:0001511	Intrauterine growth retardation	3977	LIFR	OMIM:601559
HP:0001511	Intrauterine growth retardation	3977	LIFR	ORPHA:3206
HP:0001511	Intrauterine growth retardation	7403	KDM6A	OMIM:300867
HP:0001511	Intrauterine growth retardation	7403	KDM6A	OMIM:147920
HP:0001511	Intrauterine growth retardation	84705	GTPBP3	OMIM:616198
HP:0001511	Intrauterine growth retardation	5144	PDE4D	ORPHA:439822
HP:0001511	Intrauterine growth retardation	5144	PDE4D	OMIM:614613
HP:0001511	Intrauterine growth retardation	6023	RMRP	OMIM:607095
HP:0001511	Intrauterine growth retardation	5000	ORC4	OMIM:613800
HP:0001511	Intrauterine growth retardation	5000	ORC4	ORPHA:2554
HP:0001511	Intrauterine growth retardation	6304	SATB1	OMIM:619229
HP:0001511	Intrauterine growth retardation	5573	PRKAR1A	OMIM:101800
HP:0001511	Intrauterine growth retardation	81620	CDT1	OMIM:613804
HP:0001511	Intrauterine growth retardation	81620	CDT1	ORPHA:2554
HP:0001511	Intrauterine growth retardation	91039	DPP9	OMIM:620331
HP:0001511	Intrauterine growth retardation	23594	ORC6	OMIM:613803
HP:0001511	Intrauterine growth retardation	23594	ORC6	ORPHA:2554
HP:0001511	Intrauterine growth retardation	4763	NF1	ORPHA:97685
HP:0001511	Intrauterine growth retardation	990	CDC6	OMIM:613805
HP:0001511	Intrauterine growth retardation	990	CDC6	ORPHA:2554
HP:0001511	Intrauterine growth retardation	55605	KIF21A	ORPHA:994
HP:0001511	Intrauterine growth retardation	4927	NUP88	ORPHA:994
HP:0001511	Intrauterine growth retardation	7846	TUBA1A	ORPHA:994
HP:0001511	Intrauterine growth retardation	4654	MYOD1	ORPHA:994
HP:0001511	Intrauterine growth retardation	4593	MUSK	ORPHA:994
HP:0001511	Intrauterine growth retardation	4593	MUSK	OMIM:208150
HP:0001511	Intrauterine growth retardation	5913	RAPSN	ORPHA:994
HP:0001511	Intrauterine growth retardation	6572	SLC18A3	ORPHA:994
HP:0001511	Intrauterine growth retardation	285489	DOK7	ORPHA:994
HP:0001511	Intrauterine growth retardation	9791	PTDSS1	OMIM:151050
HP:0001511	Intrauterine growth retardation	51241	COX16	OMIM:619355
HP:0001511	Intrauterine growth retardation	54809	SAMD9	OMIM:617053
HP:0001511	Intrauterine growth retardation	134218	DNAJC21	OMIM:617052
HP:0001511	Intrauterine growth retardation	4567	MT-TL1	ORPHA:324525
HP:0001511	Intrauterine growth retardation	348180	CTU2	OMIM:618142
HP:0001511	Intrauterine growth retardation	145173	B3GLCT	OMIM:261540
HP:0001511	Intrauterine growth retardation	145173	B3GLCT	ORPHA:709
HP:0001511	Intrauterine growth retardation	29927	SEC61A1	OMIM:617056
HP:0001511	Intrauterine growth retardation	6711	SPTBN1	OMIM:619475
HP:0001511	Intrauterine growth retardation	92002	CCNQ	OMIM:300707
HP:0001511	Intrauterine growth retardation	10283	CWC27	OMIM:250410
HP:0001511	Intrauterine growth retardation	10283	CWC27	ORPHA:166035
HP:0001511	Intrauterine growth retardation	1836	SLC26A2	ORPHA:628
HP:0001511	Intrauterine growth retardation	5781	PTPN11	ORPHA:500
HP:0001511	Intrauterine growth retardation	673	BRAF	ORPHA:500
HP:0001511	Intrauterine growth retardation	5894	RAF1	ORPHA:500
HP:0001511	Intrauterine growth retardation	215	ABCD1	ORPHA:369942
HP:0001511	Intrauterine growth retardation	10134	BCAP31	ORPHA:369942
HP:0001511	Intrauterine growth retardation	10134	BCAP31	OMIM:300475
HP:0001511	Intrauterine growth retardation	10134	BCAP31	ORPHA:369939
HP:0001511	Intrauterine growth retardation	2887	GRB10	ORPHA:96182
HP:0001511	Intrauterine growth retardation	25839	COG4	OMIM:618150
HP:0001511	Intrauterine growth retardation	2222	FDFT1	OMIM:618156
HP:0001511	Intrauterine growth retardation	100147744	RNU7-1	OMIM:619487
HP:0001511	Intrauterine growth retardation	6872	TAF1	OMIM:300966
HP:0001511	Intrauterine growth retardation	90522	YIF1B	OMIM:619125
HP:0001511	Intrauterine growth retardation	8567	MADD	OMIM:619004
HP:0001511	Intrauterine growth retardation	8567	MADD	OMIM:619005
HP:0001511	Intrauterine growth retardation	60558	GUF1	OMIM:617065
HP:0001511	Intrauterine growth retardation	374879	ZNF699	OMIM:619488
HP:0001511	Intrauterine growth retardation	55640	FLVCR2	OMIM:225790
HP:0001511	Intrauterine growth retardation	118924	FRA10AC1	OMIM:620113
HP:0001511	Intrauterine growth retardation	7284	TUFM	OMIM:610678
HP:0001511	Intrauterine growth retardation	93587	TRMT10A	ORPHA:391408
HP:0001511	Intrauterine growth retardation	84919	PPP1R15B	ORPHA:391408
HP:0001511	Intrauterine growth retardation	84919	PPP1R15B	OMIM:616817
HP:0001511	Intrauterine growth retardation	55252	ASXL2	OMIM:617190
HP:0001511	Intrauterine growth retardation	342035	GLDN	OMIM:617194
HP:0001511	Intrauterine growth retardation	2176	FANCC	OMIM:227645
HP:0001511	Intrauterine growth retardation	2176	FANCC	ORPHA:84
HP:0001511	Intrauterine growth retardation	2332	FMR1	ORPHA:261483
HP:0001511	Intrauterine growth retardation	84231	TRAF7	OMIM:618164
HP:0001511	Intrauterine growth retardation	1984	EIF5A	OMIM:619376
HP:0001511	Intrauterine growth retardation	51360	MBTPS2	ORPHA:85284
HP:0001511	Intrauterine growth retardation	1387	CREBBP	ORPHA:353277
HP:0001511	Intrauterine growth retardation	1387	CREBBP	ORPHA:592574
HP:0001511	Intrauterine growth retardation	131118	DNAJC19	ORPHA:66634
HP:0001511	Intrauterine growth retardation	131118	DNAJC19	OMIM:610198
HP:0001511	Intrauterine growth retardation	5297	PI4KA	ORPHA:436252
HP:0001511	Intrauterine growth retardation	5297	PI4KA	ORPHA:98889
HP:0001511	Intrauterine growth retardation	57217	TTC7A	ORPHA:436252
HP:0001511	Intrauterine growth retardation	57217	TTC7A	OMIM:243150
HP:0001511	Intrauterine growth retardation	284058	KANSL1	OMIM:610443
HP:0001511	Intrauterine growth retardation	5557	PRIM1	OMIM:620005
HP:0001511	Intrauterine growth retardation	25913	POT1	OMIM:620368
HP:0001511	Intrauterine growth retardation	219844	HYLS1	OMIM:236680
HP:0001511	Intrauterine growth retardation	3239	HOXD13	ORPHA:887
HP:0001511	Intrauterine growth retardation	1513	CTSK	ORPHA:763
HP:0001511	Intrauterine growth retardation	23040	MYT1L	ORPHA:647799
HP:0001511	Intrauterine growth retardation	116150	NUS1	OMIM:617082
HP:0001511	Intrauterine growth retardation	64432	MRPS25	OMIM:619025
HP:0001511	Intrauterine growth retardation	9652	SKIC3	ORPHA:84064
HP:0001511	Intrauterine growth retardation	9652	SKIC3	OMIM:222470
HP:0001511	Intrauterine growth retardation	6499	SKIC2	ORPHA:84064
HP:0001511	Intrauterine growth retardation	6499	SKIC2	OMIM:614602
HP:0001511	Intrauterine growth retardation	10535	RNASEH2A	OMIM:610333
HP:0001511	Intrauterine growth retardation	267	AMFR	OMIM:620379
HP:0001511	Intrauterine growth retardation	79693	YRDC	ORPHA:2065
HP:0001511	Intrauterine growth retardation	51002	TPRKB	ORPHA:2065
HP:0001511	Intrauterine growth retardation	55644	OSGEP	ORPHA:2065
HP:0001511	Intrauterine growth retardation	55644	OSGEP	OMIM:617729
HP:0001511	Intrauterine growth retardation	57122	NUP107	ORPHA:2065
HP:0001511	Intrauterine growth retardation	55746	NUP133	ORPHA:2065
HP:0001511	Intrauterine growth retardation	84520	GON7	ORPHA:2065
HP:0001511	Intrauterine growth retardation	112858	TP53RK	ORPHA:2065
HP:0001511	Intrauterine growth retardation	8270	LAGE3	ORPHA:2065
HP:0001511	Intrauterine growth retardation	8270	LAGE3	OMIM:301006
HP:0001511	Intrauterine growth retardation	26123	TCTN3	OMIM:614815
HP:0001511	Intrauterine growth retardation	26123	TCTN3	ORPHA:2753
HP:0001511	Intrauterine growth retardation	4713	NDUFB7	OMIM:620135
HP:0001511	Intrauterine growth retardation	64858	DCLRE1B	OMIM:620133
HP:0001511	Intrauterine growth retardation	4067	LYN	OMIM:620376
HP:0001511	Intrauterine growth retardation	9898	UBAP2L	OMIM:620494
HP:0001511	Intrauterine growth retardation	8085	KMT2D	OMIM:147920
HP:0001511	Intrauterine growth retardation	8085	KMT2D	OMIM:620186
HP:0001511	Intrauterine growth retardation	168667	BMPER	OMIM:608022
HP:0001511	Intrauterine growth retardation	8243	SMC1A	OMIM:300590
HP:0001511	Intrauterine growth retardation	8243	SMC1A	OMIM:301044
HP:0001511	Intrauterine growth retardation	8243	SMC1A	ORPHA:199
HP:0001511	Intrauterine growth retardation	137814	NKX2-6	ORPHA:3384
HP:0001511	Intrauterine growth retardation	137814	NKX2-6	ORPHA:3303
HP:0001511	Intrauterine growth retardation	23129	PLXND1	ORPHA:3384
HP:0001511	Intrauterine growth retardation	23129	PLXND1	OMIM:620294
HP:0001511	Intrauterine growth retardation	6309	SC5D	ORPHA:46059
HP:0001511	Intrauterine growth retardation	1832	DSP	ORPHA:158687
HP:0001511	Intrauterine growth retardation	3728	JUP	ORPHA:158687
HP:0001511	Intrauterine growth retardation	10491	CRTAP	ORPHA:2050
HP:0001511	Intrauterine growth retardation	9871	SEC24D	ORPHA:2050
HP:0001511	Intrauterine growth retardation	5034	P4HB	ORPHA:2050
HP:0001511	Intrauterine growth retardation	5393	EXOSC9	OMIM:618065
HP:0001511	Intrauterine growth retardation	7355	SLC35A2	ORPHA:356961
HP:0001511	Intrauterine growth retardation	7355	SLC35A2	OMIM:300896
HP:0001511	Intrauterine growth retardation	25821	MTO1	OMIM:614702
HP:0001511	Intrauterine growth retardation	10274	STAG1	ORPHA:502434
HP:0001511	Intrauterine growth retardation	10274	STAG1	OMIM:617635
HP:0001511	Intrauterine growth retardation	51343	FZR1	OMIM:620145
HP:0001511	Intrauterine growth retardation	2629	GBA1	OMIM:608013
HP:0001511	Intrauterine growth retardation	9690	UBE3C	OMIM:620270
HP:0001511	Intrauterine growth retardation	4784	NFIX	ORPHA:447980
HP:0001511	Intrauterine growth retardation	6341	SCO1	OMIM:619048
HP:0001511	Intrauterine growth retardation	613	BCR	ORPHA:261330
HP:0001511	Intrauterine growth retardation	1399	CRKL	ORPHA:261330
HP:0001511	Intrauterine growth retardation	5594	MAPK1	ORPHA:261330
HP:0001511	Intrauterine growth retardation	4552	MTRR	ORPHA:2169
HP:0001511	Intrauterine growth retardation	79947	DHDDS	OMIM:613861
HP:0001511	Intrauterine growth retardation	1717	DHCR7	ORPHA:818
HP:0001511	Intrauterine growth retardation	1717	DHCR7	OMIM:270400
HP:0001511	Intrauterine growth retardation	9382	COG1	OMIM:611209
HP:0001511	Intrauterine growth retardation	1353	COX11	OMIM:620275
HP:0001511	Intrauterine growth retardation	87178	PNPT1	ORPHA:319514
HP:0001511	Intrauterine growth retardation	7298	TYMS	OMIM:620040
HP:0001511	Intrauterine growth retardation	7298	TYMS	ORPHA:1775
HP:0001511	Intrauterine growth retardation	1340	COX6B1	OMIM:619051
HP:0001511	Intrauterine growth retardation	57492	ARID1B	OMIM:135900
HP:0001511	Intrauterine growth retardation	57492	ARID1B	ORPHA:1465
HP:0001511	Intrauterine growth retardation	100131801	PET100	OMIM:619055
HP:0001511	Intrauterine growth retardation	55037	PTCD3	OMIM:619057
HP:0001511	Intrauterine growth retardation	274	BIN1	OMIM:255200
HP:0001511	Intrauterine growth retardation	8289	ARID1A	OMIM:614607
HP:0001511	Intrauterine growth retardation	8289	ARID1A	ORPHA:1465
HP:0001511	Intrauterine growth retardation	672	BRCA1	ORPHA:84
HP:0001511	Intrauterine growth retardation	10459	MAD2L2	ORPHA:84
HP:0001511	Intrauterine growth retardation	7516	XRCC2	ORPHA:84
HP:0001511	Intrauterine growth retardation	29089	UBE2T	ORPHA:84
HP:0001511	Intrauterine growth retardation	2177	FANCD2	ORPHA:84
HP:0001511	Intrauterine growth retardation	2175	FANCA	ORPHA:84
HP:0001511	Intrauterine growth retardation	2178	FANCE	ORPHA:84
HP:0001511	Intrauterine growth retardation	2189	FANCG	ORPHA:84
HP:0001511	Intrauterine growth retardation	5888	RAD51	ORPHA:84
HP:0001511	Intrauterine growth retardation	5889	RAD51C	ORPHA:84
HP:0001511	Intrauterine growth retardation	57697	FANCM	ORPHA:84
HP:0001511	Intrauterine growth retardation	79728	PALB2	ORPHA:84
HP:0001511	Intrauterine growth retardation	84464	SLX4	ORPHA:84
HP:0001511	Intrauterine growth retardation	2072	ERCC4	ORPHA:84
HP:0001511	Intrauterine growth retardation	6598	SMARCB1	OMIM:614608
HP:0001511	Intrauterine growth retardation	6598	SMARCB1	ORPHA:1465
HP:0001511	Intrauterine growth retardation	6597	SMARCA4	OMIM:614609
HP:0001511	Intrauterine growth retardation	6597	SMARCA4	ORPHA:1465
HP:0001511	Intrauterine growth retardation	5313	PKLR	OMIM:266200
HP:0001511	Intrauterine growth retardation	8802	SUCLG1	OMIM:245400
HP:0001511	Intrauterine growth retardation	222663	SCUBE3	OMIM:619184
HP:0001511	Intrauterine growth retardation	9184	BUB3	ORPHA:1052
HP:0001511	Intrauterine growth retardation	699	BUB1	ORPHA:1052
HP:0001511	Intrauterine growth retardation	699	BUB1	OMIM:620183
HP:0001511	Intrauterine growth retardation	9702	CEP57	ORPHA:1052
HP:0001511	Intrauterine growth retardation	9702	CEP57	OMIM:614114
HP:0001511	Intrauterine growth retardation	9319	TRIP13	ORPHA:1052
HP:0001511	Intrauterine growth retardation	701	BUB1B	ORPHA:1052
HP:0001511	Intrauterine growth retardation	701	BUB1B	OMIM:257300
HP:0001511	Intrauterine growth retardation	7156	TOP3A	OMIM:618097
HP:0001511	Intrauterine growth retardation	51199	NIN	OMIM:614851
HP:0001511	Intrauterine growth retardation	4591	TRIM37	OMIM:253250
HP:0001511	Intrauterine growth retardation	4591	TRIM37	ORPHA:2576
HP:0001511	Intrauterine growth retardation	10352	WARS2	ORPHA:572798
HP:0001511	Intrauterine growth retardation	10352	WARS2	OMIM:617710
HP:0001511	Intrauterine growth retardation	84300	UQCC2	OMIM:615824
HP:0001511	Intrauterine growth retardation	83879	CDCA7	OMIM:616910
HP:0001511	Intrauterine growth retardation	25942	SIN3A	OMIM:613406
HP:0001511	Intrauterine growth retardation	53834	FGFRL1	OMIM:194190
HP:0001511	Intrauterine growth retardation	2200	FBN1	OMIM:616914
HP:0001511	Intrauterine growth retardation	4524	MTHFR	ORPHA:563609
HP:0001511	Intrauterine growth retardation	57216	VANGL2	ORPHA:563609
HP:0001511	Intrauterine growth retardation	81788	NUAK2	ORPHA:563609
HP:0001511	Intrauterine growth retardation	26227	PHGDH	OMIM:256520
HP:0001511	Intrauterine growth retardation	26227	PHGDH	ORPHA:79351
HP:0001511	Intrauterine growth retardation	2615	LRRC32	OMIM:619074
HP:0001511	Intrauterine growth retardation	6135	RPL11	OMIM:612562
HP:0001511	Intrauterine growth retardation	222546	RFX6	OMIM:615710
HP:0001511	Intrauterine growth retardation	26053	AUTS2	OMIM:615834
HP:0001511	Intrauterine growth retardation	5828	PEX2	OMIM:614866
HP:0001511	Intrauterine growth retardation	2321	FLT1	ORPHA:275555
HP:0001511	Intrauterine growth retardation	219736	STOX1	ORPHA:275555
HP:0001511	Intrauterine growth retardation	10699	CORIN	ORPHA:275555
HP:0001511	Intrauterine growth retardation	3043	HBB	ORPHA:2133
HP:0001511	Intrauterine growth retardation	285175	UNC80	OMIM:616801
HP:0001511	Intrauterine growth retardation	285175	UNC80	ORPHA:371364
HP:0001511	Intrauterine growth retardation	10056	FARSB	OMIM:613658
HP:0001511	Intrauterine growth retardation	9289	ADGRG1	ORPHA:98889
HP:0001511	Intrauterine growth retardation	27286	SRPX2	ORPHA:98889
HP:0001511	Intrauterine growth retardation	11128	POLR3A	OMIM:264090
HP:0001511	Intrauterine growth retardation	11128	POLR3A	ORPHA:3455
HP:0001511	Intrauterine growth retardation	57459	GATAD2B	ORPHA:363686
HP:0001511	Intrauterine growth retardation	6628	SNRPB	ORPHA:1393
HP:0001511	Intrauterine growth retardation	4089	SMAD4	OMIM:139210
HP:0001511	Intrauterine growth retardation	4089	SMAD4	ORPHA:2588
HP:0001511	Intrauterine growth retardation	1654	DDX3X	ORPHA:3338
HP:0001511	Intrauterine growth retardation	5324	PLAG1	ORPHA:397590
HP:0001511	Intrauterine growth retardation	5591	PRKDC	OMIM:615966
HP:0001511	Intrauterine growth retardation	64135	IFIH1	OMIM:615846
HP:0001511	Intrauterine growth retardation	10472	ZBTB18	OMIM:612337
HP:0001511	Intrauterine growth retardation	10165	SLC25A13	ORPHA:247598
HP:0001511	Intrauterine growth retardation	5422	POLA1	ORPHA:163976
HP:0001511	Intrauterine growth retardation	5422	POLA1	OMIM:301030
HP:0001511	Intrauterine growth retardation	6605	SMARCE1	OMIM:616938
HP:0001511	Intrauterine growth retardation	6605	SMARCE1	ORPHA:1465
HP:0001511	Intrauterine growth retardation	51085	MLXIPL	OMIM:194050
HP:0001511	Intrauterine growth retardation	3911	LAMA5	OMIM:620076
HP:0001511	Intrauterine growth retardation	55343	SLC35C1	ORPHA:99843
HP:0001511	Intrauterine growth retardation	4846	NOS3	OMIM:189800
HP:0001511	Intrauterine growth retardation	63895	PIEZO2	OMIM:248700
HP:0001511	Intrauterine growth retardation	63895	PIEZO2	ORPHA:2461
HP:0001511	Intrauterine growth retardation	5295	PIK3R1	OMIM:269880
HP:0001511	Intrauterine growth retardation	7477	WNT7B	ORPHA:2470
HP:0001511	Intrauterine growth retardation	5915	RARB	ORPHA:2470
HP:0001511	Intrauterine growth retardation	6905	TBCE	OMIM:244460
HP:0001511	Intrauterine growth retardation	6905	TBCE	ORPHA:93324
HP:0001511	Intrauterine growth retardation	6389	SDHA	ORPHA:3208
HP:0001511	Intrauterine growth retardation	6390	SDHB	ORPHA:3208
HP:0001511	Intrauterine growth retardation	6392	SDHD	ORPHA:3208
HP:0001511	Intrauterine growth retardation	644096	SDHAF1	ORPHA:3208
HP:0001511	Intrauterine growth retardation	80184	CEP290	OMIM:611134
HP:0001511	Intrauterine growth retardation	55835	CPAP	OMIM:613676
HP:0001511	Intrauterine growth retardation	545	ATR	ORPHA:808
HP:0001511	Intrauterine growth retardation	545	ATR	OMIM:210600
HP:0001511	Intrauterine growth retardation	5116	PCNT	ORPHA:808
HP:0001511	Intrauterine growth retardation	5116	PCNT	OMIM:210720
HP:0001511	Intrauterine growth retardation	5116	PCNT	ORPHA:2637
HP:0001511	Intrauterine growth retardation	5932	RBBP8	ORPHA:808
HP:0001511	Intrauterine growth retardation	79902	NUP85	ORPHA:808
HP:0001511	Intrauterine growth retardation	84126	ATRIP	ORPHA:808
HP:0001511	Intrauterine growth retardation	10293	TRAIP	ORPHA:808
HP:0001511	Intrauterine growth retardation	10293	TRAIP	OMIM:616777
HP:0001511	Intrauterine growth retardation	22995	CEP152	ORPHA:808
HP:0001511	Intrauterine growth retardation	65057	ACD	ORPHA:3322
HP:0001511	Intrauterine growth retardation	65057	ACD	OMIM:616553
HP:0001511	Intrauterine growth retardation	7015	TERT	ORPHA:3322
HP:0001511	Intrauterine growth retardation	7015	TERT	ORPHA:1775
HP:0001511	Intrauterine growth retardation	2317	FLNB	OMIM:150250
HP:0001511	Intrauterine growth retardation	583	BBS2	OMIM:615981
HP:0001511	Intrauterine growth retardation	667	DST	OMIM:614653
HP:0001511	Intrauterine growth retardation	57017	COQ9	OMIM:614654
HP:0001511	Intrauterine growth retardation	1134	CHRNA1	OMIM:253290
HP:0001511	Intrauterine growth retardation	1146	CHRNG	OMIM:253290
HP:0001511	Intrauterine growth retardation	1146	CHRNG	ORPHA:2990
HP:0001511	Intrauterine growth retardation	1144	CHRND	OMIM:253290
HP:0001511	Intrauterine growth retardation	6664	SOX11	OMIM:615866
HP:0001511	Intrauterine growth retardation	6664	SOX11	ORPHA:1465
HP:0001511	Intrauterine growth retardation	6888	TALDO1	OMIM:606003
HP:0001511	Intrauterine growth retardation	56052	ALG1	OMIM:608540
HP:0001511	Intrauterine growth retardation	6005	RHAG	ORPHA:71275
HP:0001511	Intrauterine growth retardation	6006	RHCE	ORPHA:71275
HP:0001511	Intrauterine growth retardation	6007	RHD	ORPHA:71275
HP:0001511	Intrauterine growth retardation	91949	COG7	OMIM:608779
HP:0001511	Intrauterine growth retardation	27238	GPKOW	ORPHA:2570
HP:0001511	Intrauterine growth retardation	4683	NBN	OMIM:251260
HP:0001511	Intrauterine growth retardation	23394	ADNP	OMIM:615873
HP:0001511	Intrauterine growth retardation	4173	MCM4	OMIM:609981
HP:0001511	Intrauterine growth retardation	2702	GJA5	ORPHA:3303
HP:0001511	Intrauterine growth retardation	1482	NKX2-5	ORPHA:3303
HP:0001511	Intrauterine growth retardation	23414	ZFPM2	ORPHA:3303
HP:0001511	Intrauterine growth retardation	3791	KDR	ORPHA:3303
HP:0001511	Intrauterine growth retardation	2657	GDF1	ORPHA:3303
HP:0001511	Intrauterine growth retardation	182	JAG1	ORPHA:3303
HP:0001511	Intrauterine growth retardation	140628	GATA5	ORPHA:3303
HP:0001511	Intrauterine growth retardation	2324	FLT4	ORPHA:3303
HP:0001511	Intrauterine growth retardation	10370	CITED2	ORPHA:3303
HP:0001511	Intrauterine growth retardation	55593	OTUD5	OMIM:301056
HP:0001511	Intrauterine growth retardation	113179	ADAT3	ORPHA:363528
HP:0001511	Intrauterine growth retardation	10229	COQ7	OMIM:616733
HP:0001511	Intrauterine growth retardation	55784	MCTP2	ORPHA:1596
HP:0001511	Intrauterine growth retardation	169792	GLIS3	OMIM:610199
HP:0001511	Intrauterine growth retardation	51259	TMEM216	OMIM:603194
HP:0001511	Intrauterine growth retardation	9837	GINS1	OMIM:617827
HP:0001511	Intrauterine growth retardation	5053	PAH	ORPHA:2209
HP:0001511	Intrauterine growth retardation	9401	RECQL4	ORPHA:1225
HP:0001511	Intrauterine growth retardation	5925	RB1	ORPHA:1587
HP:0001511	Intrauterine growth retardation	23511	NUP188	OMIM:618804
HP:0001511	Intrauterine growth retardation	6659	SOX4	ORPHA:1465
HP:0001511	Intrauterine growth retardation	5977	DPF2	ORPHA:1465
HP:0001511	Intrauterine growth retardation	6601	SMARCC2	ORPHA:1465
HP:0001511	Intrauterine growth retardation	6602	SMARCD1	ORPHA:1465
HP:0001511	Intrauterine growth retardation	196528	ARID2	ORPHA:1465
HP:0001511	Intrauterine growth retardation	3796	KIF2A	OMIM:615411
HP:0001511	Intrauterine growth retardation	134701	RIPPLY2	ORPHA:2311
HP:0001511	Intrauterine growth retardation	10683	DLL3	ORPHA:2311
HP:0001511	Intrauterine growth retardation	3955	LFNG	ORPHA:2311
HP:0001511	Intrauterine growth retardation	84667	HES7	ORPHA:2311
HP:0001511	Intrauterine growth retardation	145873	MESP2	ORPHA:2311
HP:0001511	Intrauterine growth retardation	64131	XYLT1	OMIM:615777
HP:0001511	Intrauterine growth retardation	57211	ADGRG6	OMIM:616503
HP:0001511	Intrauterine growth retardation	708	C1QBP	OMIM:617713
HP:0001511	Intrauterine growth retardation	9361	LONP1	ORPHA:79243
HP:0001511	Intrauterine growth retardation	5160	PDHA1	ORPHA:79243
HP:0001511	Intrauterine growth retardation	259232	NALCN	OMIM:615419
HP:0001511	Intrauterine growth retardation	259232	NALCN	ORPHA:371364
HP:0001511	Intrauterine growth retardation	157570	ESCO2	ORPHA:2319
HP:0001511	Intrauterine growth retardation	8318	CDC45	ORPHA:2554
HP:0001511	Intrauterine growth retardation	51053	GMNN	ORPHA:2554
HP:0001511	Intrauterine growth retardation	84342	COG8	OMIM:611182
HP:0001511	Intrauterine growth retardation	8985	PLOD3	OMIM:612394
HP:0001511	Intrauterine growth retardation	25	ABL1	OMIM:617602
HP:0001511	Intrauterine growth retardation	5147	PDE6D	OMIM:615665
HP:0001511	Intrauterine growth retardation	57511	COG6	OMIM:614576
HP:0001511	Intrauterine growth retardation	29980	DONSON	OMIM:617604
HP:0001511	Intrauterine growth retardation	29980	DONSON	OMIM:251230
HP:0001511	Intrauterine growth retardation	6638	SNRPN	ORPHA:177907
HP:0001511	Intrauterine growth retardation	2313	FLI1	ORPHA:2308
HP:0001511	Intrauterine growth retardation	9126	SMC3	ORPHA:199
HP:0001511	Intrauterine growth retardation	6878	TAF6	ORPHA:199
HP:0001511	Intrauterine growth retardation	55869	HDAC8	ORPHA:199
HP:0001511	Intrauterine growth retardation	5885	RAD21	ORPHA:199
HP:0001511	Intrauterine growth retardation	9997	SCO2	OMIM:604377
HP:0001511	Intrauterine growth retardation	157680	VPS13B	ORPHA:193
HP:0001511	Intrauterine growth retardation	9150	CTDP1	ORPHA:48431
HP:0001511	Intrauterine growth retardation	1861	TOR1A	OMIM:618947
HP:0001511	Intrauterine growth retardation	9894	TELO2	ORPHA:488642
HP:0001511	Intrauterine growth retardation	3704	ITPA	OMIM:616647
HP:0001511	Intrauterine growth retardation	25914	RTTN	ORPHA:468631
HP:0001511	Intrauterine growth retardation	4796	TONSL	ORPHA:93357
HP:0001511	Intrauterine growth retardation	5162	PDHB	ORPHA:255138
HP:0001511	Intrauterine growth retardation	1718	DHCR24	ORPHA:35107
HP:0001511	Intrauterine growth retardation	54870	QRICH1	OMIM:617982
HP:0001511	Intrauterine growth retardation	60528	ELAC2	OMIM:615440
HP:0001511	Intrauterine growth retardation	55278	QRSL1	OMIM:618835
HP:0001511	Intrauterine growth retardation	6911	TBX6	ORPHA:1797
HP:0001511	Intrauterine growth retardation	4780	NFE2L2	OMIM:617744
HP:0001511	Intrauterine growth retardation	202018	TAPT1	OMIM:616897
HP:0001511	Intrauterine growth retardation	28957	MRPS28	OMIM:618958
HP:0001511	Intrauterine growth retardation	5188	GATB	OMIM:618838
HP:0001511	Intrauterine growth retardation	55164	SHQ1	OMIM:619922
HP:0001511	Intrauterine growth retardation	3033	HADH	ORPHA:71212
HP:0001511	Intrauterine growth retardation	283459	GATC	OMIM:618839
HP:0001511	Intrauterine growth retardation	2767	GNA11	ORPHA:1556
HP:0001511	Intrauterine growth retardation	151188	ARL6IP6	ORPHA:1556
HP:0001511	Intrauterine growth retardation	9897	WASHC5	OMIM:220210
HP:0001511	Intrauterine growth retardation	523	ATP6V1A	ORPHA:357074
HP:0001511	Intrauterine growth retardation	529	ATP6V1E1	ORPHA:357074
HP:0001511	Intrauterine growth retardation	7518	XRCC4	OMIM:616541
HP:0001511	Intrauterine growth retardation	5879	RAC1	OMIM:617751
HP:0001511	Intrauterine growth retardation	440	ASNS	OMIM:615574
HP:0001511	Intrauterine growth retardation	200205	IBA57	OMIM:615330
HP:0001511	Intrauterine growth retardation	1663	DDX11	OMIM:613398
HP:0001511	Intrauterine growth retardation	119559	SFXN4	OMIM:615578
HP:0001511	Intrauterine growth retardation	55733	HHAT	ORPHA:1422
HP:0001511	Intrauterine growth retardation	7476	WNT7A	ORPHA:2879
HP:0001511	Intrauterine growth retardation	10269	ZMPSTE24	ORPHA:1662
HP:0001511	Intrauterine growth retardation	10269	ZMPSTE24	OMIM:275210
HP:0001511	Intrauterine growth retardation	25974	MMACHC	ORPHA:79282
HP:0001511	Intrauterine growth retardation	85378	TUBGCP6	ORPHA:2518
HP:0001511	Intrauterine growth retardation	27229	TUBGCP4	ORPHA:2518
HP:0001511	Intrauterine growth retardation	51294	PCDH12	OMIM:251280
HP:0001511	Intrauterine growth retardation	55788	LMBRD1	ORPHA:79284
HP:0001511	Intrauterine growth retardation	1788	DNMT3A	OMIM:618724
HP:0001511	Intrauterine growth retardation	9757	KMT2B	OMIM:619934
HP:0001511	Intrauterine growth retardation	4621	MYH3	ORPHA:2990
HP:0001511	Intrauterine growth retardation	22930	RAB3GAP1	ORPHA:2510
HP:0001511	Intrauterine growth retardation	25782	RAB3GAP2	ORPHA:2510
HP:0001511	Intrauterine growth retardation	22931	RAB18	ORPHA:2510
HP:0001511	Intrauterine growth retardation	128637	TBC1D20	ORPHA:2510
HP:0001511	Intrauterine growth retardation	10262	SF3B4	ORPHA:1788
HP:0001511	Intrauterine growth retardation	6223	RPS19	OMIM:105650
HP:0001511	Intrauterine growth retardation	29928	TIMM22	OMIM:618851
HP:0001511	Intrauterine growth retardation	35	ACADS	ORPHA:26792
HP:0001511	Intrauterine growth retardation	2036	EPB41L1	OMIM:614257
HP:0001511	Intrauterine growth retardation	80169	CTC1	OMIM:612199
HP:0001511	Intrauterine growth retardation	80169	CTC1	ORPHA:1775
HP:0001511	Intrauterine growth retardation	55651	NHP2	ORPHA:1775
HP:0001511	Intrauterine growth retardation	79650	USB1	ORPHA:1775
HP:0001511	Intrauterine growth retardation	55135	WRAP53	ORPHA:1775
HP:0001511	Intrauterine growth retardation	4869	NPM1	ORPHA:1775
HP:0001511	Intrauterine growth retardation	7012	TERC	ORPHA:1775
HP:0001511	Intrauterine growth retardation	55505	NOP10	ORPHA:1775
HP:0001511	Intrauterine growth retardation	10736	SIX2	ORPHA:488437
HP:0001511	Intrauterine growth retardation	63901	FAM111A	ORPHA:93325
HP:0001511	Intrauterine growth retardation	10436	EMG1	ORPHA:1270
HP:0001511	Intrauterine growth retardation	90459	ERI1	OMIM:620663
HP:0001511	Intrauterine growth retardation	256297	PTF1A	OMIM:609069
HP:0001511	Intrauterine growth retardation	50814	NSDHL	OMIM:308050
HP:0008883	Mild intrauterine growth retardation	50814	NSDHL	OMIM:308050
HP:0008883	Mild intrauterine growth retardation	2961	GTF2E2	OMIM:616943
HP:0001519	Disproportionate tall stature	4088	SMAD3	ORPHA:284984
HP:0001519	Disproportionate tall stature	4088	SMAD3	OMIM:613795
HP:0001519	Disproportionate tall stature	5979	RET	OMIM:162300
HP:0001519	Disproportionate tall stature	875	CBS	ORPHA:394
HP:0001519	Disproportionate tall stature	875	CBS	OMIM:236200
HP:0001519	Disproportionate tall stature	6611	SMS	ORPHA:3063
HP:0001519	Disproportionate tall stature	51114	ZDHHC9	OMIM:300799
HP:0001519	Disproportionate tall stature	51114	ZDHHC9	ORPHA:776
HP:0001519	Disproportionate tall stature	8925	HERC1	OMIM:617011
HP:0001519	Disproportionate tall stature	8925	HERC1	ORPHA:457359
HP:0001519	Disproportionate tall stature	5351	PLOD1	OMIM:225400
HP:0001519	Disproportionate tall stature	5351	PLOD1	ORPHA:1900
HP:0001519	Disproportionate tall stature	8076	MFAP5	OMIM:616166
HP:0001519	Disproportionate tall stature	84627	ZNF469	OMIM:229200
HP:0001519	Disproportionate tall stature	652	BMP4	ORPHA:828
HP:0001519	Disproportionate tall stature	9968	MED12	OMIM:309520
HP:0001519	Disproportionate tall stature	9968	MED12	ORPHA:776
HP:0001519	Disproportionate tall stature	3248	HPGD	OMIM:259100
HP:0001519	Disproportionate tall stature	1280	COL2A1	OMIM:108300
HP:0001519	Disproportionate tall stature	207	AKT1	ORPHA:744
HP:0001519	Disproportionate tall stature	5447	POR	ORPHA:95699
HP:0001519	Disproportionate tall stature	4125	MAN2B1	ORPHA:309282
HP:0001519	Disproportionate tall stature	1278	COL1A2	ORPHA:230851
HP:0001519	Disproportionate tall stature	80816	ASXL3	OMIM:615485
HP:0001519	Disproportionate tall stature	80816	ASXL3	ORPHA:352577
HP:0001519	Disproportionate tall stature	1742	DLG4	OMIM:618793
HP:0001519	Disproportionate tall stature	2201	FBN2	OMIM:121050
HP:0001519	Disproportionate tall stature	2201	FBN2	ORPHA:115
HP:0001519	Disproportionate tall stature	65109	UPF3B	ORPHA:776
HP:0001519	Disproportionate tall stature	2200	FBN1	OMIM:154700
HP:0001519	Disproportionate tall stature	2200	FBN1	OMIM:604308
HP:0001519	Disproportionate tall stature	55033	FKBP14	ORPHA:300179
HP:0001519	Disproportionate tall stature	113189	CHST14	ORPHA:2953
HP:0001519	Disproportionate tall stature	29940	DSE	ORPHA:2953
HP:0001519	Disproportionate tall stature	4087	SMAD2	OMIM:619656
HP:0001519	Disproportionate tall stature	7048	TGFBR2	OMIM:610168
HP:0001519	Disproportionate tall stature	10815	CPLX1	ORPHA:280
HP:0001519	Disproportionate tall stature	54872	PIGG	ORPHA:280
HP:0001519	Disproportionate tall stature	7469	NELFA	ORPHA:280
HP:0001519	Disproportionate tall stature	1487	CTBP1	ORPHA:280
HP:0001519	Disproportionate tall stature	3954	LETM1	ORPHA:280
HP:0001519	Disproportionate tall stature	7468	NSD2	ORPHA:280
HP:0001519	Disproportionate tall stature	79576	NKAP	OMIM:301039
HP:0001519	Disproportionate tall stature	4015	LOX	OMIM:617168
HP:0001519	Disproportionate tall stature	79875	THSD4	OMIM:619825
HP:0001519	Disproportionate tall stature	523	ATP6V1A	OMIM:617403
HP:0001519	Disproportionate tall stature	23395	LARS2	OMIM:615300
HP:0001519	Disproportionate tall stature	529	ATP6V1E1	OMIM:617402
HP:0001519	Disproportionate tall stature	7046	TGFBR1	OMIM:609192
HP:0001531	Failure to thrive in infancy	5979	RET	OMIM:162300
HP:0001531	Failure to thrive in infancy	5979	RET	ORPHA:388
HP:0001531	Failure to thrive in infancy	1497	CTNS	OMIM:219800
HP:0001531	Failure to thrive in infancy	90268	OTULIN	OMIM:617099
HP:0001531	Failure to thrive in infancy	1859	DYRK1A	ORPHA:268261
HP:0001531	Failure to thrive in infancy	1859	DYRK1A	OMIM:614104
HP:0001531	Failure to thrive in infancy	7355	SLC35A2	ORPHA:356961
HP:0001531	Failure to thrive in infancy	5880	RAC2	OMIM:618987
HP:0001531	Failure to thrive in infancy	100033413	SNORD116-1	OMIM:176270
HP:0001531	Failure to thrive in infancy	8924	HERC2	OMIM:176270
HP:0001531	Failure to thrive in infancy	23742	NPAP1	OMIM:176270
HP:0001531	Failure to thrive in infancy	338433	SNORD115-1	OMIM:176270
HP:0001531	Failure to thrive in infancy	54551	MAGEL2	OMIM:176270
HP:0001531	Failure to thrive in infancy	54551	MAGEL2	OMIM:615547
HP:0001531	Failure to thrive in infancy	7681	MKRN3	OMIM:176270
HP:0001531	Failure to thrive in infancy	145624	PWAR1	OMIM:176270
HP:0001531	Failure to thrive in infancy	3653	IPW	OMIM:176270
HP:0001531	Failure to thrive in infancy	791114	PWRN1	OMIM:176270
HP:0001531	Failure to thrive in infancy	1729	DIAPH1	ORPHA:477814
HP:0001531	Failure to thrive in infancy	215	ABCD1	ORPHA:388
HP:0001531	Failure to thrive in infancy	2668	GDNF	ORPHA:388
HP:0001531	Failure to thrive in infancy	6608	SMO	ORPHA:388
HP:0001531	Failure to thrive in infancy	1889	ECE1	ORPHA:388
HP:0001531	Failure to thrive in infancy	6720	SREBF1	ORPHA:388
HP:0001531	Failure to thrive in infancy	1908	EDN3	ORPHA:388
HP:0001531	Failure to thrive in infancy	223117	SEMA3D	ORPHA:388
HP:0001531	Failure to thrive in infancy	538	ATP7A	ORPHA:388
HP:0001531	Failure to thrive in infancy	1910	EDNRB	ORPHA:388
HP:0001531	Failure to thrive in infancy	10512	SEMA3C	ORPHA:388
HP:0001531	Failure to thrive in infancy	2064	ERBB2	ORPHA:388
HP:0001531	Failure to thrive in infancy	2065	ERBB3	ORPHA:388
HP:0001531	Failure to thrive in infancy	4902	NRTN	ORPHA:388
HP:0001531	Failure to thrive in infancy	10743	RAI1	ORPHA:477817
HP:0001531	Failure to thrive in infancy	10743	RAI1	ORPHA:819
HP:0001531	Failure to thrive in infancy	4056	LTC4S	OMIM:614037
HP:0001531	Failure to thrive in infancy	2314	FLII	ORPHA:819
HP:0001531	Failure to thrive in infancy	23096	IQSEC2	ORPHA:819
HP:0001531	Failure to thrive in infancy	10522	DEAF1	ORPHA:819
HP:0001531	Failure to thrive in infancy	29072	SETD2	OMIM:620155
HP:0001531	Failure to thrive in infancy	9382	COG1	OMIM:611209
HP:0001531	Failure to thrive in infancy	2067	ERCC1	OMIM:610758
HP:0001531	Failure to thrive in infancy	25839	COG4	ORPHA:263501
HP:0001531	Failure to thrive in infancy	56992	KIF15	ORPHA:261323
HP:0001531	Failure to thrive in infancy	1439	CSF2RB	ORPHA:264675
HP:0001531	Failure to thrive in infancy	1438	CSF2RA	ORPHA:264675
HP:0001531	Failure to thrive in infancy	7084	TK2	ORPHA:254875
HP:0001531	Failure to thrive in infancy	5699	PSMB10	OMIM:619175
HP:0001531	Failure to thrive in infancy	9401	RECQL4	ORPHA:1225
HP:0001531	Failure to thrive in infancy	26007	TKFC	OMIM:618805
HP:0001531	Failure to thrive in infancy	5604	MAP2K1	ORPHA:1340
HP:0001531	Failure to thrive in infancy	5604	MAP2K1	OMIM:163950
HP:0001531	Failure to thrive in infancy	5605	MAP2K2	ORPHA:1340
HP:0001531	Failure to thrive in infancy	3845	KRAS	ORPHA:1340
HP:0001531	Failure to thrive in infancy	673	BRAF	ORPHA:1340
HP:0001531	Failure to thrive in infancy	673	BRAF	OMIM:163950
HP:0001531	Failure to thrive in infancy	3431	SP110	ORPHA:79124
HP:0001531	Failure to thrive in infancy	83480	PUS3	ORPHA:488627
HP:0001531	Failure to thrive in infancy	3265	HRAS	ORPHA:3071
HP:0001531	Failure to thrive in infancy	9377	COX5A	OMIM:619064
HP:0001531	Failure to thrive in infancy	29968	PSAT1	ORPHA:284417
HP:0001531	Failure to thrive in infancy	5718	PSMD12	ORPHA:529962
HP:0001531	Failure to thrive in infancy	2186	BPTF	ORPHA:529962
HP:0001531	Failure to thrive in infancy	4697	NDUFA4	OMIM:619065
HP:0001531	Failure to thrive in infancy	833	CARS1	OMIM:618891
HP:0001531	Failure to thrive in infancy	190	NR0B1	ORPHA:95702
HP:0001531	Failure to thrive in infancy	23495	TNFRSF13B	ORPHA:1572
HP:0001531	Failure to thrive in infancy	4790	NFKB1	ORPHA:1572
HP:0001531	Failure to thrive in infancy	4791	NFKB2	ORPHA:1572
HP:0001531	Failure to thrive in infancy	115650	TNFRSF13C	ORPHA:1572
HP:0001531	Failure to thrive in infancy	1380	CR2	ORPHA:1572
HP:0001531	Failure to thrive in infancy	8742	TNFSF12	ORPHA:1572
HP:0001531	Failure to thrive in infancy	930	CD19	ORPHA:1572
HP:0001531	Failure to thrive in infancy	29851	ICOS	ORPHA:1572
HP:0001531	Failure to thrive in infancy	931	MS4A1	ORPHA:1572
HP:0001531	Failure to thrive in infancy	975	CD81	ORPHA:1572
HP:0001531	Failure to thrive in infancy	359948	IRF2BP2	ORPHA:1572
HP:0001531	Failure to thrive in infancy	4598	MVK	OMIM:610377
HP:0001531	Failure to thrive in infancy	26040	SETBP1	ORPHA:798
HP:0001531	Failure to thrive in infancy	10043	TOM1	OMIM:619510
HP:0001531	Failure to thrive in infancy	157680	VPS13B	ORPHA:193
HP:0001531	Failure to thrive in infancy	3043	HBB	ORPHA:231214
HP:0001531	Failure to thrive in infancy	3043	HBB	ORPHA:231226
HP:0001531	Failure to thrive in infancy	5167	ENPP1	ORPHA:51608
HP:0001531	Failure to thrive in infancy	368	ABCC6	ORPHA:51608
HP:0001531	Failure to thrive in infancy	6804	STX1A	ORPHA:904
HP:0001531	Failure to thrive in infancy	7461	CLIP2	ORPHA:904
HP:0001531	Failure to thrive in infancy	84277	DNAJC30	ORPHA:904
HP:0001531	Failure to thrive in infancy	8468	FKBP6	ORPHA:904
HP:0001531	Failure to thrive in infancy	5982	RFC2	ORPHA:904
HP:0001531	Failure to thrive in infancy	2969	GTF2I	ORPHA:904
HP:0001531	Failure to thrive in infancy	3984	LIMK1	ORPHA:904
HP:0001531	Failure to thrive in infancy	9569	GTF2IRD1	ORPHA:904
HP:0001531	Failure to thrive in infancy	155382	VPS37D	ORPHA:904
HP:0001531	Failure to thrive in infancy	155368	METTL27	ORPHA:904
HP:0001531	Failure to thrive in infancy	114049	BUD23	ORPHA:904
HP:0001531	Failure to thrive in infancy	7458	EIF4H	ORPHA:904
HP:0001531	Failure to thrive in infancy	84163	GTF2IRD2	ORPHA:904
HP:0001531	Failure to thrive in infancy	26608	TBL2	ORPHA:904
HP:0001531	Failure to thrive in infancy	653361	NCF1	ORPHA:904
HP:0001531	Failure to thrive in infancy	135886	TMEM270	ORPHA:904
HP:0001531	Failure to thrive in infancy	9031	BAZ1B	ORPHA:904
HP:0001531	Failure to thrive in infancy	2006	ELN	ORPHA:904
HP:0001531	Failure to thrive in infancy	2006	ELN	OMIM:194050
HP:0001531	Failure to thrive in infancy	285175	UNC80	OMIM:616801
HP:0001531	Failure to thrive in infancy	5836	PYGL	OMIM:232700
HP:0001531	Failure to thrive in infancy	3032	HADHB	ORPHA:746
HP:0001531	Failure to thrive in infancy	3030	HADHA	ORPHA:746
HP:0001531	Failure to thrive in infancy	29926	GMPPA	ORPHA:869
HP:0001531	Failure to thrive in infancy	60684	TRAPPC11	ORPHA:869
HP:0001531	Failure to thrive in infancy	8086	AAAS	ORPHA:869
HP:0001531	Failure to thrive in infancy	8405	SPOP	OMIM:618829
HP:0001531	Failure to thrive in infancy	6340	SCNN1G	ORPHA:171876
HP:0001531	Failure to thrive in infancy	6337	SCNN1A	ORPHA:171876
HP:0001531	Failure to thrive in infancy	6338	SCNN1B	ORPHA:171876
HP:0001531	Failure to thrive in infancy	2222	FDFT1	OMIM:618156
HP:0001531	Failure to thrive in infancy	83737	ITCH	OMIM:613385
HP:0001531	Failure to thrive in infancy	83737	ITCH	ORPHA:228426
HP:0001531	Failure to thrive in infancy	2260	FGFR1	ORPHA:2645
HP:0001531	Failure to thrive in infancy	3557	IL1RN	OMIM:612852
HP:0001531	Failure to thrive in infancy	10165	SLC25A13	ORPHA:247598
HP:0001531	Failure to thrive in infancy	51085	MLXIPL	OMIM:194050
HP:0001531	Failure to thrive in infancy	3718	JAK3	ORPHA:35078
HP:0001531	Failure to thrive in infancy	5422	POLA1	OMIM:301220
HP:0001531	Failure to thrive in infancy	6651	SON	ORPHA:500150
HP:0001531	Failure to thrive in infancy	10463	SLC30A9	OMIM:617595
HP:0001531	Failure to thrive in infancy	27086	FOXP1	OMIM:613670
HP:0001531	Failure to thrive in infancy	8565	YARS1	OMIM:619418
HP:0001531	Failure to thrive in infancy	50943	FOXP3	ORPHA:37042
HP:0001531	Failure to thrive in infancy	64116	SLC39A8	ORPHA:468699
HP:0001531	Failure to thrive in infancy	10225	CD96	ORPHA:1308
HP:0001531	Failure to thrive in infancy	9896	FIG4	OMIM:216340
HP:0001531	Failure to thrive in infancy	6567	SLC16A2	ORPHA:59
HP:0001531	Failure to thrive in infancy	56922	MCCC1	ORPHA:6
HP:0001531	Failure to thrive in infancy	64087	MCCC2	ORPHA:6
HP:0001531	Failure to thrive in infancy	84842	HPDL	OMIM:619026
HP:0001531	Failure to thrive in infancy	56160	NSMCE3	OMIM:617241
HP:0001531	Failure to thrive in infancy	7043	TGFB3	OMIM:615582
HP:0001531	Failure to thrive in infancy	9276	COPB2	OMIM:617800
HP:0001531	Failure to thrive in infancy	4654	MYOD1	OMIM:618975
HP:0001531	Failure to thrive in infancy	3559	IL2RA	OMIM:606367
HP:0001531	Failure to thrive in infancy	78987	CRELD1	OMIM:620771
HP:0001531	Failure to thrive in infancy	5781	PTPN11	OMIM:163950
HP:0008866	Failure to thrive secondary to recurrent infections	5896	RAG1	OMIM:601457
HP:0008866	Failure to thrive secondary to recurrent infections	5897	RAG2	OMIM:601457
HP:0008866	Failure to thrive secondary to recurrent infections	915	CD3D	ORPHA:169160
HP:0008866	Failure to thrive secondary to recurrent infections	916	CD3E	ORPHA:169160
HP:0008866	Failure to thrive secondary to recurrent infections	919	CD247	ORPHA:169160
HP:0008866	Failure to thrive secondary to recurrent infections	3575	IL7R	OMIM:608971
HP:0003510	Severe short stature	2074	ERCC6	OMIM:133540
HP:0003510	Severe short stature	2074	ERCC6	OMIM:278800
HP:0003510	Severe short stature	51574	LARP7	OMIM:615071
HP:0003510	Severe short stature	286053	NSMCE2	OMIM:617253
HP:0003510	Severe short stature	1280	COL2A1	ORPHA:93316
HP:0003510	Severe short stature	1280	COL2A1	OMIM:184250
HP:0003510	Severe short stature	118429	ANTXR2	ORPHA:2176
HP:0003510	Severe short stature	55733	HHAT	OMIM:600092
HP:0003510	Severe short stature	55733	HHAT	ORPHA:1422
HP:0003510	Severe short stature	23363	OBSL1	OMIM:612921
HP:0003510	Severe short stature	59341	TRPV4	ORPHA:93314
HP:0003510	Severe short stature	59341	TRPV4	OMIM:156530
HP:0003510	Severe short stature	59341	TRPV4	OMIM:168400
HP:0003510	Severe short stature	59341	TRPV4	ORPHA:2635
HP:0003510	Severe short stature	64220	STRA6	OMIM:601186
HP:0003510	Severe short stature	2972	BRF1	ORPHA:444072
HP:0003510	Severe short stature	2317	FLNB	OMIM:112310
HP:0003510	Severe short stature	3313	HSPA9	OMIM:616854
HP:0003510	Severe short stature	10908	PNPLA6	OMIM:275400
HP:0003510	Severe short stature	150468	CKAP2L	ORPHA:3255
HP:0003510	Severe short stature	1161	ERCC8	OMIM:216400
HP:0003510	Severe short stature	145873	MESP2	OMIM:277300
HP:0003510	Severe short stature	10683	DLL3	OMIM:277300
HP:0003510	Severe short stature	5476	CTSA	OMIM:256540
HP:0003510	Severe short stature	51360	MBTPS2	ORPHA:2273
HP:0003510	Severe short stature	51360	MBTPS2	OMIM:301014
HP:0003510	Severe short stature	23250	ATP11A	OMIM:619851
HP:0003510	Severe short stature	6777	STAT5B	OMIM:245590
HP:0003510	Severe short stature	55037	PTCD3	OMIM:619057
HP:0003510	Severe short stature	2058	EPRS1	OMIM:617951
HP:0003510	Severe short stature	64131	XYLT1	OMIM:615777
HP:0003510	Severe short stature	64131	XYLT1	ORPHA:1425
HP:0003510	Severe short stature	92344	GORAB	OMIM:231070
HP:0003510	Severe short stature	92344	GORAB	ORPHA:2078
HP:0003510	Severe short stature	2200	FBN1	ORPHA:969
HP:0003510	Severe short stature	2200	FBN1	OMIM:102370
HP:0003510	Severe short stature	4054	LTBP3	ORPHA:969
HP:0003510	Severe short stature	9719	ADAMTSL2	ORPHA:1901
HP:0003510	Severe short stature	9509	ADAMTS2	ORPHA:1901
HP:0003510	Severe short stature	157570	ESCO2	ORPHA:2319
HP:0003510	Severe short stature	5191	PEX7	OMIM:215100
HP:0003510	Severe short stature	81620	CDT1	ORPHA:2554
HP:0003510	Severe short stature	5000	ORC4	ORPHA:2554
HP:0003510	Severe short stature	23594	ORC6	ORPHA:2554
HP:0003510	Severe short stature	8318	CDC45	ORPHA:2554
HP:0003510	Severe short stature	990	CDC6	ORPHA:2554
HP:0003510	Severe short stature	4998	ORC1	ORPHA:2554
HP:0003510	Severe short stature	51053	GMNN	ORPHA:2554
HP:0003510	Severe short stature	51053	GMNN	OMIM:616835
HP:0003510	Severe short stature	3339	HSPG2	ORPHA:1865
HP:0003510	Severe short stature	3339	HSPG2	OMIM:224410
HP:0003510	Severe short stature	54539	NDUFB11	ORPHA:2556
HP:0003510	Severe short stature	1349	COX7B	ORPHA:2556
HP:0003510	Severe short stature	3052	HCCS	ORPHA:2556
HP:0003510	Severe short stature	9401	RECQL4	OMIM:218600
HP:0003510	Severe short stature	2688	GH1	OMIM:262400
HP:0003510	Severe short stature	2688	GH1	OMIM:173100
HP:0003510	Severe short stature	26175	LYSET	OMIM:619345
HP:0003510	Severe short stature	1311	COMP	OMIM:132400
HP:0003510	Severe short stature	51199	NIN	OMIM:614851
HP:0003510	Severe short stature	6023	RMRP	OMIM:607095
HP:0003510	Severe short stature	9419	CRIPT	OMIM:615789
HP:0003510	Severe short stature	139285	AMER1	ORPHA:2780
HP:0003510	Severe short stature	64374	SIL1	ORPHA:559
HP:0003510	Severe short stature	6911	TBX6	OMIM:122600
HP:0003510	Severe short stature	6911	TBX6	ORPHA:1797
HP:0003510	Severe short stature	57167	SALL4	ORPHA:2307
HP:0003510	Severe short stature	6885	MAP3K7	ORPHA:3238
HP:0003510	Severe short stature	2261	FGFR3	OMIM:616482
HP:0003510	Severe short stature	64841	GNPNAT1	OMIM:619598
HP:0003510	Severe short stature	1857	DVL3	ORPHA:3107
HP:0003510	Severe short stature	7474	WNT5A	ORPHA:3107
HP:0003510	Severe short stature	1855	DVL1	ORPHA:3107
HP:0003510	Severe short stature	2535	FZD2	ORPHA:3107
HP:0003510	Severe short stature	9791	PTDSS1	ORPHA:2658
HP:0003510	Severe short stature	80152	CENPT	OMIM:618702
HP:0003510	Severe short stature	65992	DDRGK1	ORPHA:93352
HP:0003510	Severe short stature	25914	RTTN	ORPHA:468631
HP:0003510	Severe short stature	6595	SMARCA2	ORPHA:3051
HP:0003510	Severe short stature	1718	DHCR24	ORPHA:35107
HP:0003510	Severe short stature	3636	INPPL1	OMIM:258480
HP:0003510	Severe short stature	3636	INPPL1	ORPHA:2746
HP:0003510	Severe short stature	2692	GHRHR	OMIM:618157
HP:0003510	Severe short stature	2690	GHR	OMIM:262500
HP:0003510	Severe short stature	2690	GHR	ORPHA:633
HP:0003510	Severe short stature	5130	PCYT1A	ORPHA:85167
HP:0003510	Severe short stature	2260	FGFR1	ORPHA:2645
HP:0003510	Severe short stature	2260	FGFR1	OMIM:166250
HP:0003510	Severe short stature	3832	KIF11	ORPHA:2526
HP:0003510	Severe short stature	124583	CANT1	OMIM:251450
HP:0003510	Severe short stature	124583	CANT1	ORPHA:1425
HP:0003510	Severe short stature	126792	B3GALT6	OMIM:271640
HP:0003510	Severe short stature	5295	PIK3R1	ORPHA:3163
HP:0003510	Severe short stature	5745	PTH1R	OMIM:156400
HP:0003510	Severe short stature	3423	IDS	OMIM:309900
HP:0003510	Severe short stature	2990	GUSB	OMIM:253220
HP:0003510	Severe short stature	84168	ANTXR1	OMIM:230740
HP:0003510	Severe short stature	100151683	RNU4ATAC	ORPHA:2636
HP:0003510	Severe short stature	6389	SDHA	ORPHA:3208
HP:0003510	Severe short stature	6390	SDHB	ORPHA:3208
HP:0003510	Severe short stature	6392	SDHD	ORPHA:3208
HP:0003510	Severe short stature	644096	SDHAF1	ORPHA:3208
HP:0003510	Severe short stature	6137	RPL13	OMIM:618728
HP:0003510	Severe short stature	2720	GLB1	OMIM:230500
HP:0003510	Severe short stature	55835	CPAP	OMIM:613676
HP:0003510	Severe short stature	5831	PYCR1	ORPHA:2078
HP:0003510	Severe short stature	1788	DNMT3A	OMIM:618724
HP:0003510	Severe short stature	1836	SLC26A2	ORPHA:93298
HP:0003510	Severe short stature	63901	FAM111A	OMIM:127000
HP:0003510	Severe short stature	9321	TRIP11	ORPHA:93299
HP:0003510	Severe short stature	2072	ERCC4	OMIM:610965
HP:0003510	Severe short stature	23522	KAT6B	ORPHA:3047
HP:0003510	Severe short stature	166929	SGMS2	OMIM:126550
HP:0003510	Severe short stature	26123	TCTN3	ORPHA:2753
HP:0003510	Severe short stature	55790	CSGALNACT1	ORPHA:1425
HP:0003510	Severe short stature	6473	SHOX	ORPHA:2632
HP:0003510	Severe short stature	1749	DLX5	OMIM:220600
HP:0003510	Severe short stature	25871	NEPRO	OMIM:618853
HP:0003510	Severe short stature	5426	POLE	OMIM:618336
HP:0003510	Severe short stature	63895	PIEZO2	ORPHA:2461
HP:0003510	Severe short stature	3480	IGF1R	OMIM:270450
HP:0003510	Severe short stature	1278	COL1A2	ORPHA:1899
HP:0003510	Severe short stature	1277	COL1A1	ORPHA:1899
HP:0003510	Severe short stature	54808	DYM	ORPHA:239
HP:0003510	Severe short stature	4089	SMAD4	ORPHA:2588
HP:0003510	Severe short stature	8085	KMT2D	OMIM:147920
HP:0003510	Severe short stature	7403	KDM6A	OMIM:147920
HP:0005612	Arthrogryposis-like hand anomaly	23389	MED13L	ORPHA:369891
HP:0005612	Arthrogryposis-like hand anomaly	65055	REEP1	OMIM:620011
HP:0010910	Hypervalinemia	594	BCKDHB	OMIM:620698
HP:0010910	Hypervalinemia	587	BCAT2	OMIM:618850
HP:0010910	Hypervalinemia	10367	MICU1	OMIM:615673
HP:0010910	Hypervalinemia	506	ATP5F1B	OMIM:620085
HP:0010911	Hyperleucinemia	152926	PPM1K	OMIM:615135
HP:0010911	Hyperleucinemia	594	BCKDHB	OMIM:620698
HP:0010911	Hyperleucinemia	587	BCAT2	OMIM:618850
HP:0010911	Hyperleucinemia	64087	MCCC2	OMIM:210210
HP:0010911	Hyperleucinemia	506	ATP5F1B	OMIM:620085
HP:0010912	Abnormal circulating isoleucine concentration	152926	PPM1K	OMIM:615135
HP:0010912	Abnormal circulating isoleucine concentration	594	BCKDHB	OMIM:620698
HP:0010912	Abnormal circulating isoleucine concentration	1738	DLD	ORPHA:2394
HP:0010912	Abnormal circulating isoleucine concentration	587	BCAT2	OMIM:618850
HP:0010912	Abnormal circulating isoleucine concentration	506	ATP5F1B	OMIM:620085
HP:0010912	Abnormal circulating isoleucine concentration	10295	BCKDK	OMIM:614923
HP:0010913	Hyperisoleucinemia	152926	PPM1K	OMIM:615135
HP:0010913	Hyperisoleucinemia	594	BCKDHB	OMIM:620698
HP:0010913	Hyperisoleucinemia	1738	DLD	ORPHA:2394
HP:0010913	Hyperisoleucinemia	587	BCAT2	OMIM:618850
HP:0010913	Hyperisoleucinemia	506	ATP5F1B	OMIM:620085
HP:0010914	Abnormal circulating valine concentration	594	BCKDHB	OMIM:620698
HP:0010914	Abnormal circulating valine concentration	587	BCAT2	OMIM:618850
HP:0010914	Abnormal circulating valine concentration	10367	MICU1	OMIM:615673
HP:0010914	Abnormal circulating valine concentration	506	ATP5F1B	OMIM:620085
HP:0010914	Abnormal circulating valine concentration	10295	BCKDK	OMIM:614923
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	9056	SLC7A7	ORPHA:470
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	5091	PC	OMIM:266150
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	51241	COX16	OMIM:619355
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	55768	NGLY1	OMIM:615273
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	26235	FBXL4	OMIM:615471
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	4567	MT-TL1	ORPHA:324525
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	4567	MT-TL1	ORPHA:255210
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	54914	FOCAD	OMIM:619991
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	498	ATP5F1A	OMIM:616045
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	498	ATP5F1A	OMIM:620358
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	498	ATP5F1A	ORPHA:254913
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	11222	MRPL3	OMIM:614582
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	763	CA5A	OMIM:615751
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	10059	DNM1L	OMIM:614388
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	25821	MTO1	OMIM:614702
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	90624	LYRM7	OMIM:615838
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	8659	ALDH4A1	ORPHA:79101
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	57176	VARS2	OMIM:615917
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	2203	FBP1	ORPHA:348
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	80222	TARS2	OMIM:615918
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	162417	NAGS	OMIM:237310
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	162417	NAGS	ORPHA:927
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	5428	POLG	ORPHA:254881
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	5428	POLG	ORPHA:298
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	4535	MT-ND1	ORPHA:255210
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	4536	MT-ND2	ORPHA:255210
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	4537	MT-ND3	ORPHA:255210
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	4538	MT-ND4	ORPHA:255210
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	4578	MT-TW	ORPHA:255210
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	4577	MT-TV	ORPHA:255210
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	4508	MT-ATP6	ORPHA:255210
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	4508	MT-ATP6	ORPHA:254913
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	4540	MT-ND5	ORPHA:255210
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	4541	MT-ND6	ORPHA:255210
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	4566	MT-TK	ORPHA:255210
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	4716	NDUFB10	OMIM:619003
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	6341	SCO1	OMIM:619048
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	7385	UQCRC2	OMIM:615160
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	5160	PDHA1	OMIM:312170
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	1352	COX10	OMIM:619046
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	387787	LIPT2	OMIM:617668
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	1841	DTYMK	OMIM:619847
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	4285	MIPEP	OMIM:617228
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	54931	TRMT10C	OMIM:616974
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	4976	OPA1	OMIM:616896
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	1890	TYMP	ORPHA:298
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	3980	LIG3	ORPHA:298
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	50484	RRM2B	ORPHA:298
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	1340	COX6B1	OMIM:619051
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	90161	HS6ST2	OMIM:301025
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	4718	NDUFC2	OMIM:619170
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	1351	COX8A	OMIM:619059
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	4509	MT-ATP8	ORPHA:254913
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	514	ATP5F1E	ORPHA:254913
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	513	ATP5F1D	ORPHA:254913
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	84833	ATP5MK	ORPHA:254913
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	91647	ATPAF2	ORPHA:254913
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	51116	MRPS2	OMIM:617950
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	125988	MICOS13	OMIM:618329
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	4724	NDUFS4	OMIM:252010
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	54148	MRPL39	OMIM:620646
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	51079	NDUFA13	OMIM:618249
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	291	SLC25A4	OMIM:615418
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	54704	PDP1	ORPHA:79246
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	9377	COX5A	OMIM:619064
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	55863	TMEM126B	OMIM:618250
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	54968	TMEM70	OMIM:614052
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	3735	KARS1	OMIM:619147
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	63931	MRPS14	OMIM:618378
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	9054	NFS1	OMIM:619386
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	57017	COQ9	OMIM:614654
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	84947	SERAC1	OMIM:614739
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	79736	TEFM	OMIM:620451
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	8050	PDHX	ORPHA:255182
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	10165	SLC25A13	ORPHA:247598
HP:0010916	Abnormal circulating alanine concentration	9056	SLC7A7	ORPHA:470
HP:0010916	Abnormal circulating alanine concentration	5091	PC	OMIM:266150
HP:0010916	Abnormal circulating alanine concentration	51241	COX16	OMIM:619355
HP:0010916	Abnormal circulating alanine concentration	55768	NGLY1	OMIM:615273
HP:0010916	Abnormal circulating alanine concentration	26235	FBXL4	OMIM:615471
HP:0010916	Abnormal circulating alanine concentration	4567	MT-TL1	ORPHA:324525
HP:0010916	Abnormal circulating alanine concentration	4567	MT-TL1	ORPHA:255210
HP:0010916	Abnormal circulating alanine concentration	54914	FOCAD	OMIM:619991
HP:0010916	Abnormal circulating alanine concentration	498	ATP5F1A	OMIM:616045
HP:0010916	Abnormal circulating alanine concentration	498	ATP5F1A	OMIM:620358
HP:0010916	Abnormal circulating alanine concentration	498	ATP5F1A	ORPHA:254913
HP:0010916	Abnormal circulating alanine concentration	11222	MRPL3	OMIM:614582
HP:0010916	Abnormal circulating alanine concentration	763	CA5A	OMIM:615751
HP:0010916	Abnormal circulating alanine concentration	10059	DNM1L	OMIM:614388
HP:0010916	Abnormal circulating alanine concentration	25821	MTO1	OMIM:614702
HP:0010916	Abnormal circulating alanine concentration	90624	LYRM7	OMIM:615838
HP:0010916	Abnormal circulating alanine concentration	8659	ALDH4A1	ORPHA:79101
HP:0010916	Abnormal circulating alanine concentration	57176	VARS2	OMIM:615917
HP:0010916	Abnormal circulating alanine concentration	2203	FBP1	ORPHA:348
HP:0010916	Abnormal circulating alanine concentration	80222	TARS2	OMIM:615918
HP:0010916	Abnormal circulating alanine concentration	162417	NAGS	OMIM:237310
HP:0010916	Abnormal circulating alanine concentration	162417	NAGS	ORPHA:927
HP:0010916	Abnormal circulating alanine concentration	5428	POLG	ORPHA:254881
HP:0010916	Abnormal circulating alanine concentration	5428	POLG	ORPHA:298
HP:0010916	Abnormal circulating alanine concentration	4535	MT-ND1	ORPHA:255210
HP:0010916	Abnormal circulating alanine concentration	4536	MT-ND2	ORPHA:255210
HP:0010916	Abnormal circulating alanine concentration	4537	MT-ND3	ORPHA:255210
HP:0010916	Abnormal circulating alanine concentration	4538	MT-ND4	ORPHA:255210
HP:0010916	Abnormal circulating alanine concentration	4578	MT-TW	ORPHA:255210
HP:0010916	Abnormal circulating alanine concentration	4577	MT-TV	ORPHA:255210
HP:0010916	Abnormal circulating alanine concentration	4508	MT-ATP6	ORPHA:255210
HP:0010916	Abnormal circulating alanine concentration	4508	MT-ATP6	ORPHA:254913
HP:0010916	Abnormal circulating alanine concentration	4540	MT-ND5	ORPHA:255210
HP:0010916	Abnormal circulating alanine concentration	4541	MT-ND6	ORPHA:255210
HP:0010916	Abnormal circulating alanine concentration	4566	MT-TK	ORPHA:255210
HP:0010916	Abnormal circulating alanine concentration	8050	PDHX	OMIM:245349
HP:0010916	Abnormal circulating alanine concentration	4716	NDUFB10	OMIM:619003
HP:0010916	Abnormal circulating alanine concentration	6341	SCO1	OMIM:619048
HP:0010916	Abnormal circulating alanine concentration	7385	UQCRC2	OMIM:615160
HP:0010916	Abnormal circulating alanine concentration	5160	PDHA1	OMIM:312170
HP:0010916	Abnormal circulating alanine concentration	1352	COX10	OMIM:619046
HP:0010916	Abnormal circulating alanine concentration	387787	LIPT2	OMIM:617668
HP:0010916	Abnormal circulating alanine concentration	1841	DTYMK	OMIM:619847
HP:0010916	Abnormal circulating alanine concentration	4285	MIPEP	OMIM:617228
HP:0010916	Abnormal circulating alanine concentration	54931	TRMT10C	OMIM:616974
HP:0010916	Abnormal circulating alanine concentration	4976	OPA1	OMIM:616896
HP:0010916	Abnormal circulating alanine concentration	1890	TYMP	ORPHA:298
HP:0010916	Abnormal circulating alanine concentration	3980	LIG3	ORPHA:298
HP:0010916	Abnormal circulating alanine concentration	50484	RRM2B	ORPHA:298
HP:0010916	Abnormal circulating alanine concentration	1340	COX6B1	OMIM:619051
HP:0010916	Abnormal circulating alanine concentration	90161	HS6ST2	OMIM:301025
HP:0010916	Abnormal circulating alanine concentration	4718	NDUFC2	OMIM:619170
HP:0010916	Abnormal circulating alanine concentration	1351	COX8A	OMIM:619059
HP:0010916	Abnormal circulating alanine concentration	4509	MT-ATP8	ORPHA:254913
HP:0010916	Abnormal circulating alanine concentration	514	ATP5F1E	ORPHA:254913
HP:0010916	Abnormal circulating alanine concentration	513	ATP5F1D	ORPHA:254913
HP:0010916	Abnormal circulating alanine concentration	84833	ATP5MK	ORPHA:254913
HP:0010916	Abnormal circulating alanine concentration	91647	ATPAF2	ORPHA:254913
HP:0010916	Abnormal circulating alanine concentration	51116	MRPS2	OMIM:617950
HP:0010916	Abnormal circulating alanine concentration	125988	MICOS13	OMIM:618329
HP:0010916	Abnormal circulating alanine concentration	4724	NDUFS4	OMIM:252010
HP:0010916	Abnormal circulating alanine concentration	54148	MRPL39	OMIM:620646
HP:0010916	Abnormal circulating alanine concentration	51079	NDUFA13	OMIM:618249
HP:0010916	Abnormal circulating alanine concentration	291	SLC25A4	OMIM:615418
HP:0010916	Abnormal circulating alanine concentration	54704	PDP1	ORPHA:79246
HP:0010916	Abnormal circulating alanine concentration	9377	COX5A	OMIM:619064
HP:0010916	Abnormal circulating alanine concentration	55863	TMEM126B	OMIM:618250
HP:0010916	Abnormal circulating alanine concentration	54968	TMEM70	OMIM:614052
HP:0010916	Abnormal circulating alanine concentration	3735	KARS1	OMIM:619147
HP:0010916	Abnormal circulating alanine concentration	63931	MRPS14	OMIM:618378
HP:0010916	Abnormal circulating alanine concentration	9054	NFS1	OMIM:619386
HP:0010916	Abnormal circulating alanine concentration	57017	COQ9	OMIM:614654
HP:0010916	Abnormal circulating alanine concentration	84947	SERAC1	OMIM:614739
HP:0010916	Abnormal circulating alanine concentration	79736	TEFM	OMIM:620451
HP:0010916	Abnormal circulating alanine concentration	10165	SLC25A13	ORPHA:247598
HP:0010917	Abnormal circulating tyrosine concentration	10165	SLC25A13	OMIM:605814
HP:0010917	Abnormal circulating tyrosine concentration	10165	SLC25A13	ORPHA:247598
HP:0010917	Abnormal circulating tyrosine concentration	4358	MPV17	OMIM:256810
HP:0010917	Abnormal circulating tyrosine concentration	6898	TAT	OMIM:276600
HP:0010917	Abnormal circulating tyrosine concentration	2184	FAH	OMIM:276700
HP:0010917	Abnormal circulating tyrosine concentration	617	BCS1L	OMIM:124000
HP:0010917	Abnormal circulating tyrosine concentration	7019	TFAM	OMIM:617156
HP:0010917	Abnormal circulating tyrosine concentration	55163	PNPO	ORPHA:79096
HP:0010917	Abnormal circulating tyrosine concentration	3242	HPD	ORPHA:2118
HP:0010918	Abnormal circulating cysteine concentration	10157	AASS	ORPHA:3124
HP:0010918	Abnormal circulating cysteine concentration	4780	NFE2L2	OMIM:617744
HP:0010918	Abnormal circulating cysteine concentration	10243	GPHN	OMIM:615501
HP:0010919	Abnormal circulating homocysteine concentration	4552	MTRR	OMIM:236270
HP:0010919	Abnormal circulating homocysteine concentration	4552	MTRR	ORPHA:2169
HP:0010919	Abnormal circulating homocysteine concentration	4524	MTHFR	OMIM:236250
HP:0010919	Abnormal circulating homocysteine concentration	4524	MTHFR	ORPHA:395
HP:0010919	Abnormal circulating homocysteine concentration	875	CBS	ORPHA:394
HP:0010919	Abnormal circulating homocysteine concentration	875	CBS	OMIM:236200
HP:0010919	Abnormal circulating homocysteine concentration	6573	SLC19A1	OMIM:601775
HP:0010919	Abnormal circulating homocysteine concentration	4522	MTHFD1	OMIM:617780
HP:0010919	Abnormal circulating homocysteine concentration	55788	LMBRD1	OMIM:277380
HP:0010919	Abnormal circulating homocysteine concentration	55788	LMBRD1	ORPHA:79284
HP:0010919	Abnormal circulating homocysteine concentration	25974	MMACHC	ORPHA:79282
HP:0010919	Abnormal circulating homocysteine concentration	25974	MMACHC	OMIM:277400
HP:0010919	Abnormal circulating homocysteine concentration	3054	HCFC1	OMIM:309541
HP:0010919	Abnormal circulating homocysteine concentration	51293	CD320	OMIM:613646
HP:0010919	Abnormal circulating homocysteine concentration	6948	TCN2	OMIM:275350
HP:0010919	Abnormal circulating homocysteine concentration	5826	ABCD4	OMIM:614857
HP:0010919	Abnormal circulating homocysteine concentration	4548	MTR	OMIM:250940
HP:0010919	Abnormal circulating homocysteine concentration	27249	MMADHC	OMIM:277410
HP:0010919	Abnormal circulating homocysteine concentration	5052	PRDX1	OMIM:277400
HP:0010919	Abnormal circulating homocysteine concentration	84693	MCEE	OMIM:251120
HP:0010919	Abnormal circulating homocysteine concentration	191	AHCY	ORPHA:88618
HP:0010919	Abnormal circulating homocysteine concentration	4780	NFE2L2	OMIM:617744
HP:0003034	Diaphyseal sclerosis	1436	CSF1R	OMIM:618476
HP:0003034	Diaphyseal sclerosis	2778	GNAS	ORPHA:94089
HP:0003034	Diaphyseal sclerosis	8675	STX16	ORPHA:94089
HP:0003034	Diaphyseal sclerosis	760	CA2	OMIM:259730
HP:0003034	Diaphyseal sclerosis	8600	TNFSF11	OMIM:259710
HP:0003034	Diaphyseal sclerosis	50964	SOST	OMIM:122860
HP:0003034	Diaphyseal sclerosis	7040	TGFB1	OMIM:131300
HP:0003034	Diaphyseal sclerosis	203859	ANO5	OMIM:166260
HP:0003034	Diaphyseal sclerosis	4507	MTAP	OMIM:112250
HP:0010109	Short hallux	9896	FIG4	ORPHA:3472
HP:0010109	Short hallux	55697	VAC14	ORPHA:3472
HP:0010109	Short hallux	2077	ERF	OMIM:617180
HP:0010109	Short hallux	658	BMPR1B	OMIM:112600
HP:0010109	Short hallux	658	BMPR1B	ORPHA:93388
HP:0010109	Short hallux	650	BMP2	OMIM:112600
HP:0010109	Short hallux	8200	GDF5	OMIM:112600
HP:0010109	Short hallux	8200	GDF5	ORPHA:93388
HP:0010109	Short hallux	90	ACVR1	OMIM:135100
HP:0010109	Short hallux	90	ACVR1	ORPHA:337
HP:0010109	Short hallux	2263	FGFR2	ORPHA:93260
HP:0010109	Short hallux	2263	FGFR2	ORPHA:93258
HP:0010109	Short hallux	2263	FGFR2	ORPHA:93259
HP:0010109	Short hallux	50515	CHST11	OMIM:618167
HP:0010109	Short hallux	10262	SF3B4	OMIM:154400
HP:0010109	Short hallux	4256	MGP	OMIM:245150
HP:0010109	Short hallux	22856	CHSY1	ORPHA:363417
HP:0010109	Short hallux	7994	KAT6A	OMIM:616268
HP:0010109	Short hallux	6091	ROBO1	OMIM:620305
HP:0010109	Short hallux	3209	HOXA13	OMIM:140000
HP:0010109	Short hallux	3209	HOXA13	ORPHA:2438
HP:0010109	Short hallux	2260	FGFR1	ORPHA:93258
HP:0010109	Short hallux	2697	GJA1	ORPHA:2710
HP:0010109	Short hallux	10060	ABCC9	OMIM:239850
HP:0010109	Short hallux	10060	ABCC9	ORPHA:1517
HP:0010109	Short hallux	9241	NOG	OMIM:186500
HP:0010109	Short hallux	22827	PUF60	ORPHA:508488
HP:0010109	Short hallux	727857	BHLHA9	ORPHA:157801
HP:0010109	Short hallux	10815	CPLX1	ORPHA:280
HP:0010109	Short hallux	10815	CPLX1	OMIM:194190
HP:0010109	Short hallux	54872	PIGG	ORPHA:280
HP:0010109	Short hallux	7469	NELFA	ORPHA:280
HP:0010109	Short hallux	1487	CTBP1	ORPHA:280
HP:0010109	Short hallux	1487	CTBP1	OMIM:194190
HP:0010109	Short hallux	3954	LETM1	ORPHA:280
HP:0010109	Short hallux	3954	LETM1	OMIM:194190
HP:0010109	Short hallux	7468	NSD2	ORPHA:280
HP:0010109	Short hallux	7468	NSD2	OMIM:194190
HP:0010109	Short hallux	9775	EIF4A3	OMIM:268305
HP:0010109	Short hallux	2316	FLNA	OMIM:311300
HP:0010109	Short hallux	2316	FLNA	OMIM:304120
HP:0010109	Short hallux	2316	FLNA	ORPHA:90650
HP:0010109	Short hallux	2316	FLNA	ORPHA:90652
HP:0010109	Short hallux	57167	SALL4	ORPHA:959
HP:0010109	Short hallux	53834	FGFRL1	OMIM:194190
HP:0010109	Short hallux	3764	KCNJ8	ORPHA:1517
HP:0010109	Short hallux	2239	GPC4	ORPHA:2662
HP:0010109	Short hallux	3549	IHH	ORPHA:93388
HP:0010109	Short hallux	7175	TPR	OMIM:620393
HP:0004322	Short stature	3170	FOXA2	ORPHA:95494
HP:0004322	Short stature	2137	EXTL3	ORPHA:508533
HP:0004322	Short stature	2137	EXTL3	OMIM:617425
HP:0004322	Short stature	2879	GPX4	ORPHA:93317
HP:0004322	Short stature	2879	GPX4	OMIM:250220
HP:0004322	Short stature	4882	NPR2	ORPHA:40
HP:0004322	Short stature	65992	DDRGK1	ORPHA:93352
HP:0004322	Short stature	29071	C1GALT1C1	OMIM:301110
HP:0004322	Short stature	1311	COMP	ORPHA:93308
HP:0004322	Short stature	26523	AGO1	OMIM:620292
HP:0004322	Short stature	1795	DOCK3	OMIM:618292
HP:0004322	Short stature	7703	PCGF2	OMIM:618371
HP:0004322	Short stature	50515	CHST11	OMIM:618167
HP:0004322	Short stature	644096	SDHAF1	ORPHA:3208
HP:0004322	Short stature	4733	DRG1	OMIM:620641
HP:0004322	Short stature	1788	DNMT3A	ORPHA:404443
HP:0004322	Short stature	6340	SCNN1G	ORPHA:171876
HP:0004322	Short stature	6337	SCNN1A	ORPHA:171876
HP:0004322	Short stature	6338	SCNN1B	ORPHA:171876
HP:0004322	Short stature	7086	TKT	OMIM:617044
HP:0004322	Short stature	7086	TKT	ORPHA:488618
HP:0004322	Short stature	375056	MIA3	OMIM:619269
HP:0004322	Short stature	64221	ROBO3	ORPHA:2744
HP:0004322	Short stature	1630	DCC	ORPHA:2744
HP:0004322	Short stature	3033	HADH	ORPHA:71212
HP:0004322	Short stature	91039	DPP9	OMIM:620331
HP:0004322	Short stature	84181	CHD6	ORPHA:2108
HP:0004322	Short stature	1499	CTNNB1	ORPHA:54595
HP:0004322	Short stature	51574	LARP7	OMIM:615071
HP:0004322	Short stature	286053	NSMCE2	OMIM:617253
HP:0004322	Short stature	118429	ANTXR2	ORPHA:2176
HP:0004322	Short stature	55733	HHAT	OMIM:600092
HP:0004322	Short stature	55733	HHAT	ORPHA:1422
HP:0004322	Short stature	3313	HSPA9	OMIM:616854
HP:0004322	Short stature	5476	CTSA	OMIM:256540
HP:0004322	Short stature	23250	ATP11A	OMIM:619851
HP:0004322	Short stature	55037	PTCD3	OMIM:619057
HP:0004322	Short stature	2058	EPRS1	OMIM:617951
HP:0004322	Short stature	92344	GORAB	OMIM:231070
HP:0004322	Short stature	92344	GORAB	ORPHA:2078
HP:0004322	Short stature	5191	PEX7	OMIM:215100
HP:0004322	Short stature	51053	GMNN	ORPHA:2554
HP:0004322	Short stature	51053	GMNN	OMIM:616835
HP:0004322	Short stature	26175	LYSET	OMIM:619345
HP:0004322	Short stature	9419	CRIPT	OMIM:615789
HP:0004322	Short stature	57167	SALL4	ORPHA:2307
HP:0004322	Short stature	64841	GNPNAT1	OMIM:619598
HP:0004322	Short stature	80152	CENPT	OMIM:618702
HP:0004322	Short stature	2692	GHRHR	OMIM:618157
HP:0004322	Short stature	3832	KIF11	ORPHA:2526
HP:0004322	Short stature	6137	RPL13	OMIM:618728
HP:0004322	Short stature	55835	CPAP	OMIM:613676
HP:0004322	Short stature	5831	PYCR1	ORPHA:2078
HP:0004322	Short stature	166929	SGMS2	OMIM:126550
HP:0004322	Short stature	1749	DLX5	OMIM:220600
HP:0004322	Short stature	25871	NEPRO	OMIM:618853
HP:0004322	Short stature	6399	TRAPPC2	ORPHA:93284
HP:0004322	Short stature	6399	TRAPPC2	OMIM:313400
HP:0004322	Short stature	153642	ARSK	OMIM:619698
HP:0004322	Short stature	579	NKX3-2	OMIM:613330
HP:0004322	Short stature	2588	GALNS	OMIM:253000
HP:0004322	Short stature	6911	TBX6	OMIM:122600
HP:0004322	Short stature	168667	BMPER	OMIM:608022
HP:0004322	Short stature	1968	EIF2S3	OMIM:300148
HP:0004322	Short stature	4998	ORC1	OMIM:224690
HP:0004322	Short stature	55627	SMPD4	OMIM:618622
HP:0004322	Short stature	5324	PLAG1	OMIM:618907
HP:0004322	Short stature	1718	DHCR24	OMIM:602398
HP:0004322	Short stature	23394	ADNP	ORPHA:404448
HP:0004322	Short stature	23394	ADNP	OMIM:615873
HP:0004322	Short stature	55703	POLR3B	OMIM:614381
HP:0004322	Short stature	55703	POLR3B	OMIM:607694
HP:0004322	Short stature	1139	CHRNA7	ORPHA:199318
HP:0004322	Short stature	8216	LZTR1	OMIM:616564
HP:0004322	Short stature	8216	LZTR1	ORPHA:648
HP:0004322	Short stature	8216	LZTR1	OMIM:605275
HP:0004322	Short stature	6228	RPS23	OMIM:617412
HP:0004322	Short stature	1729	DIAPH1	ORPHA:477814
HP:0004322	Short stature	1729	DIAPH1	OMIM:616632
HP:0004322	Short stature	215	ABCD1	ORPHA:388
HP:0004322	Short stature	5979	RET	ORPHA:388
HP:0004322	Short stature	2668	GDNF	ORPHA:388
HP:0004322	Short stature	6608	SMO	ORPHA:388
HP:0004322	Short stature	6608	SMO	OMIM:241800
HP:0004322	Short stature	1889	ECE1	ORPHA:388
HP:0004322	Short stature	6720	SREBF1	ORPHA:388
HP:0004322	Short stature	1908	EDN3	ORPHA:388
HP:0004322	Short stature	223117	SEMA3D	ORPHA:388
HP:0004322	Short stature	538	ATP7A	ORPHA:388
HP:0004322	Short stature	538	ATP7A	OMIM:309400
HP:0004322	Short stature	1910	EDNRB	ORPHA:388
HP:0004322	Short stature	10512	SEMA3C	ORPHA:388
HP:0004322	Short stature	2064	ERBB2	ORPHA:388
HP:0004322	Short stature	2065	ERBB3	ORPHA:388
HP:0004322	Short stature	4902	NRTN	ORPHA:388
HP:0004322	Short stature	3481	IGF2	ORPHA:231140
HP:0004322	Short stature	3481	IGF2	ORPHA:231144
HP:0004322	Short stature	3481	IGF2	OMIM:616489
HP:0004322	Short stature	283120	H19	ORPHA:231140
HP:0004322	Short stature	283120	H19	ORPHA:231144
HP:0004322	Short stature	5932	RBBP8	OMIM:606744
HP:0004322	Short stature	5932	RBBP8	ORPHA:808
HP:0004322	Short stature	6729	SRP54	OMIM:618752
HP:0004322	Short stature	6729	SRP54	OMIM:260400
HP:0004322	Short stature	166378	AFG2A	OMIM:616577
HP:0004322	Short stature	1161	ERCC8	OMIM:216400
HP:0004322	Short stature	1513	CTSK	OMIM:265800
HP:0004322	Short stature	5832	ALDH18A1	OMIM:616586
HP:0004322	Short stature	5832	ALDH18A1	ORPHA:447760
HP:0004322	Short stature	5832	ALDH18A1	OMIM:601162
HP:0004322	Short stature	5832	ALDH18A1	OMIM:219150
HP:0004322	Short stature	54453	RIN2	OMIM:613075
HP:0004322	Short stature	6884	TAF13	OMIM:617432
HP:0004322	Short stature	6884	TAF13	ORPHA:2512
HP:0004322	Short stature	1280	COL2A1	OMIM:616583
HP:0004322	Short stature	1280	COL2A1	OMIM:619248
HP:0004322	Short stature	1280	COL2A1	ORPHA:2380
HP:0004322	Short stature	1280	COL2A1	ORPHA:93296
HP:0004322	Short stature	1280	COL2A1	OMIM:604864
HP:0004322	Short stature	1280	COL2A1	OMIM:184255
HP:0004322	Short stature	1280	COL2A1	ORPHA:93315
HP:0004322	Short stature	1280	COL2A1	OMIM:132450
HP:0004322	Short stature	1280	COL2A1	OMIM:150600
HP:0004322	Short stature	1280	COL2A1	ORPHA:85198
HP:0004322	Short stature	1280	COL2A1	OMIM:271700
HP:0004322	Short stature	10111	RAD50	OMIM:613078
HP:0004322	Short stature	7436	VLDLR	OMIM:224050
HP:0004322	Short stature	7436	VLDLR	ORPHA:1766
HP:0004322	Short stature	54543	TOMM7	OMIM:620601
HP:0004322	Short stature	51109	RDH11	OMIM:616108
HP:0004322	Short stature	51109	RDH11	ORPHA:436245
HP:0004322	Short stature	9401	RECQL4	OMIM:218600
HP:0004322	Short stature	9401	RECQL4	OMIM:266280
HP:0004322	Short stature	9401	RECQL4	OMIM:268400
HP:0004322	Short stature	9401	RECQL4	ORPHA:1225
HP:0004322	Short stature	9401	RECQL4	ORPHA:221016
HP:0004322	Short stature	171023	ASXL1	ORPHA:97297
HP:0004322	Short stature	171023	ASXL1	OMIM:605039
HP:0004322	Short stature	23312	DMXL2	OMIM:616113
HP:0004322	Short stature	8036	SHOC2	ORPHA:2701
HP:0004322	Short stature	8036	SHOC2	OMIM:607721
HP:0004322	Short stature	5500	PPP1CB	ORPHA:2701
HP:0004322	Short stature	5500	PPP1CB	OMIM:617506
HP:0004322	Short stature	3340	NDST1	OMIM:616116
HP:0004322	Short stature	4247	MGAT2	OMIM:212066
HP:0004322	Short stature	54	ACP5	ORPHA:1855
HP:0004322	Short stature	54	ACP5	OMIM:607944
HP:0004322	Short stature	63901	FAM111A	OMIM:602361
HP:0004322	Short stature	63901	FAM111A	ORPHA:93325
HP:0004322	Short stature	55131	RBM28	ORPHA:157954
HP:0004322	Short stature	55131	RBM28	OMIM:612079
HP:0004322	Short stature	79659	DYNC2H1	OMIM:613091
HP:0004322	Short stature	79659	DYNC2H1	ORPHA:474
HP:0004322	Short stature	11285	B4GALT7	OMIM:130070
HP:0004322	Short stature	11285	B4GALT7	ORPHA:75496
HP:0004322	Short stature	6772	STAT1	ORPHA:391487
HP:0004322	Short stature	6772	STAT1	OMIM:614162
HP:0004322	Short stature	2072	ERCC4	OMIM:615272
HP:0004322	Short stature	2072	ERCC4	ORPHA:84
HP:0004322	Short stature	2072	ERCC4	ORPHA:220295
HP:0004322	Short stature	2072	ERCC4	ORPHA:910
HP:0004322	Short stature	2072	ERCC4	OMIM:278760
HP:0004322	Short stature	8493	PPM1D	OMIM:617450
HP:0004322	Short stature	5034	P4HB	OMIM:112240
HP:0004322	Short stature	5034	P4HB	ORPHA:2050
HP:0004322	Short stature	51633	OTUD6B	OMIM:617452
HP:0004322	Short stature	51633	OTUD6B	ORPHA:505237
HP:0004322	Short stature	9354	UBE4A	OMIM:619639
HP:0004322	Short stature	5604	MAP2K1	OMIM:615279
HP:0004322	Short stature	5604	MAP2K1	ORPHA:1340
HP:0004322	Short stature	5604	MAP2K1	OMIM:163950
HP:0004322	Short stature	5593	PRKG2	OMIM:619636
HP:0004322	Short stature	2736	GLI2	OMIM:610829
HP:0004322	Short stature	2736	GLI2	ORPHA:220386
HP:0004322	Short stature	2736	GLI2	ORPHA:280200
HP:0004322	Short stature	2736	GLI2	ORPHA:93926
HP:0004322	Short stature	2736	GLI2	ORPHA:93924
HP:0004322	Short stature	2736	GLI2	ORPHA:93925
HP:0004322	Short stature	2736	GLI2	OMIM:615849
HP:0004322	Short stature	79718	TBL1XR1	OMIM:602342
HP:0004322	Short stature	5605	MAP2K2	OMIM:615280
HP:0004322	Short stature	5605	MAP2K2	ORPHA:638
HP:0004322	Short stature	5605	MAP2K2	ORPHA:1340
HP:0004322	Short stature	54828	BCAS3	OMIM:619641
HP:0004322	Short stature	113179	ADAT3	OMIM:615286
HP:0004322	Short stature	113179	ADAT3	ORPHA:363528
HP:0004322	Short stature	50485	SMARCAL1	ORPHA:1830
HP:0004322	Short stature	23187	PHLDB1	OMIM:620639
HP:0004322	Short stature	79971	WLS	OMIM:619648
HP:0004322	Short stature	3373	HYAL1	OMIM:601492
HP:0004322	Short stature	3373	HYAL1	ORPHA:67041
HP:0004322	Short stature	63895	PIEZO2	ORPHA:376
HP:0004322	Short stature	63895	PIEZO2	OMIM:108145
HP:0004322	Short stature	63895	PIEZO2	OMIM:114300
HP:0004322	Short stature	63895	PIEZO2	OMIM:617146
HP:0004322	Short stature	3423	IDS	OMIM:309900
HP:0004322	Short stature	3423	IDS	ORPHA:217093
HP:0004322	Short stature	3423	IDS	ORPHA:217085
HP:0004322	Short stature	25836	NIPBL	OMIM:122470
HP:0004322	Short stature	25836	NIPBL	ORPHA:199
HP:0004322	Short stature	23499	MACF1	OMIM:618325
HP:0004322	Short stature	4087	SMAD2	OMIM:619656
HP:0004322	Short stature	4087	SMAD2	OMIM:619657
HP:0004322	Short stature	100151683	RNU4ATAC	ORPHA:1824
HP:0004322	Short stature	100151683	RNU4ATAC	ORPHA:353298
HP:0004322	Short stature	100151683	RNU4ATAC	OMIM:226960
HP:0004322	Short stature	100151683	RNU4ATAC	OMIM:616651
HP:0004322	Short stature	2778	GNAS	ORPHA:79443
HP:0004322	Short stature	2778	GNAS	ORPHA:79444
HP:0004322	Short stature	2778	GNAS	ORPHA:79445
HP:0004322	Short stature	2778	GNAS	OMIM:612463
HP:0004322	Short stature	2778	GNAS	OMIM:612462
HP:0004322	Short stature	2778	GNAS	OMIM:103580
HP:0004322	Short stature	2778	GNAS	ORPHA:94089
HP:0004322	Short stature	5836	PYGL	ORPHA:369
HP:0004322	Short stature	79648	MCPH1	OMIM:251200
HP:0004322	Short stature	79648	MCPH1	ORPHA:2512
HP:0004322	Short stature	178	AGL	ORPHA:366
HP:0004322	Short stature	178	AGL	OMIM:232400
HP:0004322	Short stature	2629	GBA1	ORPHA:77261
HP:0004322	Short stature	2629	GBA1	ORPHA:77259
HP:0004322	Short stature	2629	GBA1	OMIM:231000
HP:0004322	Short stature	1523	CUX1	OMIM:618330
HP:0004322	Short stature	5908	RAP1B	OMIM:620654
HP:0004322	Short stature	5910	RAP1GDS1	OMIM:620655
HP:0004322	Short stature	7873	MANF	OMIM:620651
HP:0004322	Short stature	5626	PROP1	ORPHA:90695
HP:0004322	Short stature	5626	PROP1	OMIM:262600
HP:0004322	Short stature	6658	SOX3	ORPHA:90695
HP:0004322	Short stature	6658	SOX3	ORPHA:3157
HP:0004322	Short stature	6658	SOX3	ORPHA:67045
HP:0004322	Short stature	6658	SOX3	OMIM:300123
HP:0004322	Short stature	950	SCARB2	ORPHA:77259
HP:0004322	Short stature	7227	TRPS1	ORPHA:77258
HP:0004322	Short stature	7227	TRPS1	OMIM:190350
HP:0004322	Short stature	7227	TRPS1	OMIM:190351
HP:0004322	Short stature	7227	TRPS1	ORPHA:502
HP:0004322	Short stature	64132	XYLT2	OMIM:605822
HP:0004322	Short stature	64132	XYLT2	ORPHA:85194
HP:0004322	Short stature	7291	TWIST1	ORPHA:794
HP:0004322	Short stature	7291	TWIST1	OMIM:101400
HP:0004322	Short stature	2263	FGFR2	ORPHA:794
HP:0004322	Short stature	2263	FGFR2	OMIM:101400
HP:0004322	Short stature	2261	FGFR3	ORPHA:794
HP:0004322	Short stature	2261	FGFR3	ORPHA:93274
HP:0004322	Short stature	2261	FGFR3	OMIM:602849
HP:0004322	Short stature	3480	IGF1R	ORPHA:73273
HP:0004322	Short stature	3480	IGF1R	OMIM:270450
HP:0004322	Short stature	3479	IGF1	ORPHA:73272
HP:0004322	Short stature	3479	IGF1	OMIM:608747
HP:0004322	Short stature	57190	SELENON	ORPHA:324604
HP:0004322	Short stature	57190	SELENON	OMIM:602771
HP:0004322	Short stature	4625	MYH7	ORPHA:324604
HP:0004322	Short stature	4625	MYH7	OMIM:255160
HP:0004322	Short stature	7273	TTN	ORPHA:324604
HP:0004322	Short stature	10785	WDR4	OMIM:618346
HP:0004322	Short stature	10785	WDR4	OMIM:618347
HP:0004322	Short stature	10785	WDR4	ORPHA:2065
HP:0004322	Short stature	4598	MVK	ORPHA:29
HP:0004322	Short stature	4598	MVK	OMIM:610377
HP:0004322	Short stature	54517	PUS7	OMIM:618342
HP:0004322	Short stature	8573	CASK	OMIM:300749
HP:0004322	Short stature	89884	LHX4	OMIM:262700
HP:0004322	Short stature	89884	LHX4	ORPHA:95496
HP:0004322	Short stature	57122	NUP107	OMIM:618348
HP:0004322	Short stature	57122	NUP107	ORPHA:243
HP:0004322	Short stature	57122	NUP107	ORPHA:2065
HP:0004322	Short stature	90459	ERI1	OMIM:620663
HP:0004322	Short stature	2690	GHR	ORPHA:314802
HP:0004322	Short stature	2690	GHR	OMIM:604271
HP:0004322	Short stature	100033413	SNORD116-1	OMIM:176270
HP:0004322	Short stature	8924	HERC2	OMIM:176270
HP:0004322	Short stature	23742	NPAP1	OMIM:176270
HP:0004322	Short stature	338433	SNORD115-1	OMIM:176270
HP:0004322	Short stature	54551	MAGEL2	OMIM:176270
HP:0004322	Short stature	54551	MAGEL2	ORPHA:398069
HP:0004322	Short stature	54551	MAGEL2	ORPHA:177904
HP:0004322	Short stature	54551	MAGEL2	ORPHA:177901
HP:0004322	Short stature	54551	MAGEL2	ORPHA:177910
HP:0004322	Short stature	54551	MAGEL2	OMIM:615547
HP:0004322	Short stature	54551	MAGEL2	ORPHA:98754
HP:0004322	Short stature	7681	MKRN3	OMIM:176270
HP:0004322	Short stature	145624	PWAR1	OMIM:176270
HP:0004322	Short stature	3653	IPW	OMIM:176270
HP:0004322	Short stature	791114	PWRN1	OMIM:176270
HP:0004322	Short stature	27125	AFF4	ORPHA:444077
HP:0004322	Short stature	27125	AFF4	OMIM:616368
HP:0004322	Short stature	55630	SLC39A4	ORPHA:37
HP:0004322	Short stature	55630	SLC39A4	OMIM:201100
HP:0004322	Short stature	55315	SLC29A3	OMIM:602782
HP:0004322	Short stature	55315	SLC29A3	ORPHA:168569
HP:0004322	Short stature	55315	SLC29A3	ORPHA:1782
HP:0004322	Short stature	10733	PLK4	OMIM:616171
HP:0004322	Short stature	10733	PLK4	ORPHA:808
HP:0004322	Short stature	10733	PLK4	ORPHA:2518
HP:0004322	Short stature	4967	OGDH	ORPHA:31
HP:0004322	Short stature	11277	TREX1	OMIM:225750
HP:0004322	Short stature	11277	TREX1	ORPHA:51
HP:0004322	Short stature	25885	POLR1A	OMIM:620675
HP:0004322	Short stature	25885	POLR1A	OMIM:616462
HP:0004322	Short stature	25885	POLR1A	ORPHA:1200
HP:0004322	Short stature	1297	COL9A1	ORPHA:166002
HP:0004322	Short stature	1297	COL9A1	ORPHA:250984
HP:0004322	Short stature	1297	COL9A1	OMIM:614134
HP:0004322	Short stature	1298	COL9A2	ORPHA:166002
HP:0004322	Short stature	1298	COL9A2	OMIM:614284
HP:0004322	Short stature	1298	COL9A2	ORPHA:250984
HP:0004322	Short stature	1299	COL9A3	ORPHA:166002
HP:0004322	Short stature	1299	COL9A3	ORPHA:250984
HP:0004322	Short stature	1281	COL3A1	OMIM:130050
HP:0004322	Short stature	1281	COL3A1	ORPHA:286
HP:0004322	Short stature	1281	COL3A1	ORPHA:2500
HP:0004322	Short stature	427	ASAH1	ORPHA:333
HP:0004322	Short stature	55777	MBD5	OMIM:156200
HP:0004322	Short stature	55777	MBD5	ORPHA:228402
HP:0004322	Short stature	254394	MCM9	OMIM:616185
HP:0004322	Short stature	10588	MTHFS	OMIM:618367
HP:0004322	Short stature	22930	RAB3GAP1	OMIM:600118
HP:0004322	Short stature	22930	RAB3GAP1	OMIM:619420
HP:0004322	Short stature	22930	RAB3GAP1	ORPHA:2510
HP:0004322	Short stature	22930	RAB3GAP1	ORPHA:1387
HP:0004322	Short stature	3549	IHH	ORPHA:63446
HP:0004322	Short stature	3549	IHH	OMIM:112500
HP:0004322	Short stature	3549	IHH	ORPHA:93388
HP:0004322	Short stature	3549	IHH	OMIM:607778
HP:0004322	Short stature	2334	AFF2	OMIM:309548
HP:0004322	Short stature	2334	AFF2	ORPHA:100973
HP:0004322	Short stature	84068	SLC10A7	OMIM:618363
HP:0004322	Short stature	8200	GDF5	ORPHA:63442
HP:0004322	Short stature	8200	GDF5	OMIM:113100
HP:0004322	Short stature	8200	GDF5	ORPHA:93384
HP:0004322	Short stature	8200	GDF5	ORPHA:93388
HP:0004322	Short stature	8200	GDF5	OMIM:615072
HP:0004322	Short stature	8200	GDF5	ORPHA:2639
HP:0004322	Short stature	7468	NSD2	OMIM:619695
HP:0004322	Short stature	7468	NSD2	OMIM:194190
HP:0004322	Short stature	50945	TBX22	OMIM:302905
HP:0004322	Short stature	50945	TBX22	ORPHA:921
HP:0004322	Short stature	3054	HCFC1	OMIM:309541
HP:0004322	Short stature	201163	FLCN	OMIM:610883
HP:0004322	Short stature	11145	PLAAT3	OMIM:620683
HP:0004322	Short stature	2717	GLA	ORPHA:324
HP:0004322	Short stature	5130	PCYT1A	OMIM:620680
HP:0004322	Short stature	5130	PCYT1A	OMIM:608940
HP:0004322	Short stature	2131	EXT1	ORPHA:321
HP:0004322	Short stature	2131	EXT1	ORPHA:502
HP:0004322	Short stature	2131	EXT1	OMIM:133700
HP:0004322	Short stature	2132	EXT2	ORPHA:321
HP:0004322	Short stature	2132	EXT2	OMIM:133701
HP:0004322	Short stature	25778	DSTYK	ORPHA:101003
HP:0004322	Short stature	3291	HSD11B2	ORPHA:320
HP:0004322	Short stature	3291	HSD11B2	OMIM:218030
HP:0004322	Short stature	23111	SPART	ORPHA:101000
HP:0004322	Short stature	23111	SPART	OMIM:275900
HP:0004322	Short stature	5611	DNAJC3	OMIM:616192
HP:0004322	Short stature	5611	DNAJC3	ORPHA:445062
HP:0004322	Short stature	51729	WBP11	OMIM:619227
HP:0004322	Short stature	2697	GJA1	ORPHA:317
HP:0004322	Short stature	2697	GJA1	OMIM:257850
HP:0004322	Short stature	2707	GJB3	ORPHA:317
HP:0004322	Short stature	2531	KDSR	ORPHA:317
HP:0004322	Short stature	127534	GJB4	ORPHA:317
HP:0004322	Short stature	8883	NAE1	OMIM:620210
HP:0004322	Short stature	55186	SLC25A36	OMIM:620211
HP:0004322	Short stature	4763	NF1	ORPHA:97685
HP:0004322	Short stature	4763	NF1	OMIM:193520
HP:0004322	Short stature	4763	NF1	OMIM:601321
HP:0004322	Short stature	4763	NF1	ORPHA:638
HP:0004322	Short stature	4763	NF1	ORPHA:139474
HP:0004322	Short stature	4763	NF1	ORPHA:363700
HP:0004322	Short stature	4763	NF1	OMIM:162200
HP:0004322	Short stature	151516	ASPRV1	ORPHA:313
HP:0004322	Short stature	242	ALOX12B	ORPHA:313
HP:0004322	Short stature	242	ALOX12B	ORPHA:79394
HP:0004322	Short stature	126410	CYP4F22	ORPHA:313
HP:0004322	Short stature	6820	SULT2B1	ORPHA:313
HP:0004322	Short stature	6820	SULT2B1	ORPHA:79394
HP:0004322	Short stature	26154	ABCA12	ORPHA:313
HP:0004322	Short stature	26154	ABCA12	ORPHA:79394
HP:0004322	Short stature	643418	LIPN	ORPHA:313
HP:0004322	Short stature	59344	ALOXE3	ORPHA:313
HP:0004322	Short stature	59344	ALOXE3	ORPHA:79394
HP:0004322	Short stature	348938	NIPAL4	ORPHA:313
HP:0004322	Short stature	348938	NIPAL4	ORPHA:79394
HP:0004322	Short stature	121214	SDR9C7	ORPHA:313
HP:0004322	Short stature	121214	SDR9C7	ORPHA:79394
HP:0004322	Short stature	7051	TGM1	ORPHA:313
HP:0004322	Short stature	7051	TGM1	ORPHA:79394
HP:0004322	Short stature	2316	FLNA	ORPHA:75497
HP:0004322	Short stature	2316	FLNA	ORPHA:2301
HP:0004322	Short stature	2316	FLNA	ORPHA:2484
HP:0004322	Short stature	2316	FLNA	OMIM:304120
HP:0004322	Short stature	2316	FLNA	ORPHA:88630
HP:0004322	Short stature	2316	FLNA	OMIM:311300
HP:0004322	Short stature	9757	KMT2B	ORPHA:589618
HP:0004322	Short stature	9757	KMT2B	OMIM:617284
HP:0004322	Short stature	84265	POLR3GL	OMIM:619234
HP:0004322	Short stature	54809	SAMD9	OMIM:617053
HP:0004322	Short stature	134218	DNAJC21	OMIM:617052
HP:0004322	Short stature	134218	DNAJC21	ORPHA:811
HP:0004322	Short stature	134218	DNAJC21	OMIM:260400
HP:0004322	Short stature	29927	SEC61A1	OMIM:617056
HP:0004322	Short stature	92002	CCNQ	OMIM:300707
HP:0004322	Short stature	92002	CCNQ	ORPHA:140952
HP:0004322	Short stature	1041	CDSN	OMIM:270300
HP:0004322	Short stature	10283	CWC27	ORPHA:166035
HP:0004322	Short stature	10283	CWC27	OMIM:250410
HP:0004322	Short stature	8720	MBTPS1	OMIM:618392
HP:0004322	Short stature	51360	MBTPS2	OMIM:308205
HP:0004322	Short stature	8318	CDC45	OMIM:617063
HP:0004322	Short stature	57477	SHROOM4	ORPHA:85288
HP:0004322	Short stature	1289	COL5A1	OMIM:130000
HP:0004322	Short stature	23233	EXOC6B	OMIM:618395
HP:0004322	Short stature	8450	CUL4B	ORPHA:85293
HP:0004322	Short stature	8450	CUL4B	OMIM:300354
HP:0004322	Short stature	2799	GNS	OMIM:252940
HP:0004322	Short stature	50964	SOST	OMIM:122860
HP:0004322	Short stature	50964	SOST	ORPHA:1513
HP:0004322	Short stature	7169	TPM2	OMIM:108120
HP:0004322	Short stature	7169	TPM2	ORPHA:1147
HP:0004322	Short stature	55670	PEX26	ORPHA:772
HP:0004322	Short stature	55670	PEX26	ORPHA:44
HP:0004322	Short stature	55670	PEX26	ORPHA:912
HP:0004322	Short stature	5824	PEX19	ORPHA:772
HP:0004322	Short stature	5824	PEX19	ORPHA:44
HP:0004322	Short stature	5824	PEX19	OMIM:614886
HP:0004322	Short stature	5824	PEX19	ORPHA:912
HP:0004322	Short stature	5828	PEX2	ORPHA:772
HP:0004322	Short stature	5828	PEX2	ORPHA:44
HP:0004322	Short stature	5828	PEX2	ORPHA:912
HP:0004322	Short stature	8504	PEX3	ORPHA:772
HP:0004322	Short stature	8504	PEX3	ORPHA:44
HP:0004322	Short stature	8504	PEX3	ORPHA:912
HP:0004322	Short stature	9409	PEX16	ORPHA:772
HP:0004322	Short stature	9409	PEX16	ORPHA:44
HP:0004322	Short stature	9409	PEX16	ORPHA:912
HP:0004322	Short stature	5190	PEX6	ORPHA:772
HP:0004322	Short stature	5190	PEX6	ORPHA:3220
HP:0004322	Short stature	5190	PEX6	ORPHA:44
HP:0004322	Short stature	5190	PEX6	ORPHA:912
HP:0004322	Short stature	8799	PEX11B	ORPHA:772
HP:0004322	Short stature	8799	PEX11B	ORPHA:44
HP:0004322	Short stature	8799	PEX11B	ORPHA:912
HP:0004322	Short stature	5830	PEX5	ORPHA:772
HP:0004322	Short stature	5830	PEX5	ORPHA:44
HP:0004322	Short stature	5830	PEX5	OMIM:616716
HP:0004322	Short stature	5830	PEX5	ORPHA:912
HP:0004322	Short stature	5189	PEX1	ORPHA:772
HP:0004322	Short stature	5189	PEX1	ORPHA:3220
HP:0004322	Short stature	5189	PEX1	ORPHA:44
HP:0004322	Short stature	5189	PEX1	ORPHA:912
HP:0004322	Short stature	5193	PEX12	ORPHA:772
HP:0004322	Short stature	5193	PEX12	ORPHA:44
HP:0004322	Short stature	5193	PEX12	ORPHA:912
HP:0004322	Short stature	5194	PEX13	ORPHA:772
HP:0004322	Short stature	5194	PEX13	ORPHA:44
HP:0004322	Short stature	5194	PEX13	ORPHA:912
HP:0004322	Short stature	5195	PEX14	ORPHA:772
HP:0004322	Short stature	5195	PEX14	ORPHA:44
HP:0004322	Short stature	5195	PEX14	ORPHA:912
HP:0004322	Short stature	5192	PEX10	ORPHA:772
HP:0004322	Short stature	5192	PEX10	ORPHA:44
HP:0004322	Short stature	5192	PEX10	ORPHA:912
HP:0004322	Short stature	10084	PQBP1	OMIM:309500
HP:0004322	Short stature	10084	PQBP1	ORPHA:93950
HP:0004322	Short stature	10084	PQBP1	ORPHA:93945
HP:0004322	Short stature	10084	PQBP1	ORPHA:93946
HP:0004322	Short stature	10084	PQBP1	ORPHA:93947
HP:0004322	Short stature	8242	KDM5C	ORPHA:85279
HP:0004322	Short stature	8242	KDM5C	OMIM:300534
HP:0004322	Short stature	5339	PLEC	OMIM:226670
HP:0004322	Short stature	89970	RSPRY1	ORPHA:457395
HP:0004322	Short stature	89970	RSPRY1	OMIM:616723
HP:0004322	Short stature	51594	NBAS	OMIM:614800
HP:0004322	Short stature	54187	NANS	OMIM:610442
HP:0004322	Short stature	84464	SLX4	OMIM:613951
HP:0004322	Short stature	84464	SLX4	ORPHA:84
HP:0004322	Short stature	284058	KANSL1	OMIM:610443
HP:0004322	Short stature	3643	INSR	ORPHA:769
HP:0004322	Short stature	3643	INSR	OMIM:262190
HP:0004322	Short stature	64131	XYLT1	ORPHA:370930
HP:0004322	Short stature	7474	WNT5A	OMIM:180700
HP:0004322	Short stature	7474	WNT5A	ORPHA:3107
HP:0004322	Short stature	1855	DVL1	OMIM:180700
HP:0004322	Short stature	1855	DVL1	OMIM:616331
HP:0004322	Short stature	1855	DVL1	ORPHA:3107
HP:0004322	Short stature	64802	NMNAT1	OMIM:619260
HP:0004322	Short stature	51626	DYNC2LI1	OMIM:617088
HP:0004322	Short stature	51626	DYNC2LI1	ORPHA:474
HP:0004322	Short stature	55181	SMG8	OMIM:619268
HP:0004322	Short stature	2693	GHSR	ORPHA:314811
HP:0004322	Short stature	2693	GHSR	OMIM:615925
HP:0004322	Short stature	27445	PCLO	OMIM:608027
HP:0004322	Short stature	5696	PSMB8	OMIM:256040
HP:0004322	Short stature	26146	TRAF3IP1	ORPHA:3156
HP:0004322	Short stature	9657	IQCB1	ORPHA:3156
HP:0004322	Short stature	10806	SDCCAG8	ORPHA:3156
HP:0004322	Short stature	10806	SDCCAG8	OMIM:615993
HP:0004322	Short stature	10806	SDCCAG8	ORPHA:110
HP:0004322	Short stature	27130	INVS	ORPHA:3156
HP:0004322	Short stature	80184	CEP290	ORPHA:3156
HP:0004322	Short stature	80184	CEP290	ORPHA:110
HP:0004322	Short stature	4867	NPHP1	ORPHA:3156
HP:0004322	Short stature	4867	NPHP1	ORPHA:110
HP:0004322	Short stature	261734	NPHP4	ORPHA:3156
HP:0004322	Short stature	57728	WDR19	ORPHA:3156
HP:0004322	Short stature	57728	WDR19	OMIM:614378
HP:0004322	Short stature	57728	WDR19	OMIM:614376
HP:0004322	Short stature	57728	WDR19	ORPHA:474
HP:0004322	Short stature	27031	NPHP3	ORPHA:3156
HP:0004322	Short stature	22897	CEP164	ORPHA:3156
HP:0004322	Short stature	2260	FGFR1	ORPHA:3157
HP:0004322	Short stature	2260	FGFR1	ORPHA:220386
HP:0004322	Short stature	2260	FGFR1	ORPHA:280200
HP:0004322	Short stature	2260	FGFR1	ORPHA:93924
HP:0004322	Short stature	2260	FGFR1	OMIM:147950
HP:0004322	Short stature	128674	PROKR2	ORPHA:3157
HP:0004322	Short stature	128674	PROKR2	ORPHA:95496
HP:0004322	Short stature	6657	SOX2	ORPHA:3157
HP:0004322	Short stature	6657	SOX2	OMIM:206900
HP:0004322	Short stature	9915	ARNT2	ORPHA:3157
HP:0004322	Short stature	9915	ARNT2	OMIM:615926
HP:0004322	Short stature	8820	HESX1	ORPHA:3157
HP:0004322	Short stature	8820	HESX1	ORPHA:95496
HP:0004322	Short stature	8820	HESX1	OMIM:182230
HP:0004322	Short stature	5015	OTX2	ORPHA:3157
HP:0004322	Short stature	5015	OTX2	OMIM:610125
HP:0004322	Short stature	5015	OTX2	OMIM:613986
HP:0004322	Short stature	4053	LTBP2	OMIM:614819
HP:0004322	Short stature	4053	LTBP2	ORPHA:3449
HP:0004322	Short stature	374654	KIF7	ORPHA:166024
HP:0004322	Short stature	374654	KIF7	ORPHA:2754
HP:0004322	Short stature	128	ADH5	OMIM:619151
HP:0004322	Short stature	64374	SIL1	OMIM:248800
HP:0004322	Short stature	6535	SLC6A8	OMIM:300352
HP:0004322	Short stature	6535	SLC6A8	ORPHA:52503
HP:0004322	Short stature	5885	RAD21	OMIM:614701
HP:0004322	Short stature	5885	RAD21	ORPHA:502
HP:0004322	Short stature	5885	RAD21	ORPHA:199
HP:0004322	Short stature	652	BMP4	ORPHA:828
HP:0004322	Short stature	857	CAV1	OMIM:612526
HP:0004322	Short stature	6165	RPL35A	OMIM:612528
HP:0004322	Short stature	6165	RPL35A	ORPHA:124
HP:0004322	Short stature	6218	RPS17	OMIM:612527
HP:0004322	Short stature	6218	RPS17	ORPHA:124
HP:0004322	Short stature	10093	ARPC4	OMIM:620141
HP:0004322	Short stature	9496	TBX4	ORPHA:238578
HP:0004322	Short stature	9496	TBX4	ORPHA:261279
HP:0004322	Short stature	9496	TBX4	OMIM:147891
HP:0004322	Short stature	613	BCR	ORPHA:261330
HP:0004322	Short stature	1399	CRKL	ORPHA:261330
HP:0004322	Short stature	5594	MAPK1	ORPHA:261330
HP:0004322	Short stature	89910	UBE3B	OMIM:244450
HP:0004322	Short stature	841	CASP8	OMIM:607271
HP:0004322	Short stature	55788	LMBRD1	OMIM:277380
HP:0004322	Short stature	224	ALDH3A2	ORPHA:816
HP:0004322	Short stature	224	ALDH3A2	OMIM:270200
HP:0004322	Short stature	2314	FLII	ORPHA:819
HP:0004322	Short stature	23096	IQSEC2	ORPHA:819
HP:0004322	Short stature	10743	RAI1	ORPHA:819
HP:0004322	Short stature	10743	RAI1	ORPHA:1713
HP:0004322	Short stature	10743	RAI1	OMIM:182290
HP:0004322	Short stature	10522	DEAF1	ORPHA:819
HP:0004322	Short stature	1717	DHCR7	ORPHA:818
HP:0004322	Short stature	1717	DHCR7	OMIM:270400
HP:0004322	Short stature	4758	NEU1	ORPHA:812
HP:0004322	Short stature	4758	NEU1	OMIM:256550
HP:0004322	Short stature	150468	CKAP2L	ORPHA:3255
HP:0004322	Short stature	9382	COG1	OMIM:611209
HP:0004322	Short stature	79631	EFL1	ORPHA:811
HP:0004322	Short stature	79631	EFL1	OMIM:617941
HP:0004322	Short stature	51119	SBDS	ORPHA:811
HP:0004322	Short stature	51119	SBDS	OMIM:260400
HP:0004322	Short stature	56992	KIF15	ORPHA:261323
HP:0004322	Short stature	4001	LMNB1	OMIM:619179
HP:0004322	Short stature	4001	LMNB1	ORPHA:2514
HP:0004322	Short stature	1801	DPH1	OMIM:616901
HP:0004322	Short stature	1801	DPH1	ORPHA:459061
HP:0004322	Short stature	412	STS	ORPHA:281090
HP:0004322	Short stature	55858	TMEM165	OMIM:614727
HP:0004322	Short stature	80254	CEP63	OMIM:614728
HP:0004322	Short stature	80254	CEP63	ORPHA:2512
HP:0004322	Short stature	672	BRCA1	ORPHA:84
HP:0004322	Short stature	672	BRCA1	OMIM:617883
HP:0004322	Short stature	10459	MAD2L2	ORPHA:84
HP:0004322	Short stature	10459	MAD2L2	OMIM:617243
HP:0004322	Short stature	7516	XRCC2	ORPHA:84
HP:0004322	Short stature	29089	UBE2T	ORPHA:84
HP:0004322	Short stature	29089	UBE2T	OMIM:616435
HP:0004322	Short stature	675	BRCA2	ORPHA:84
HP:0004322	Short stature	675	BRCA2	OMIM:605724
HP:0004322	Short stature	55120	FANCL	ORPHA:84
HP:0004322	Short stature	2177	FANCD2	ORPHA:84
HP:0004322	Short stature	2177	FANCD2	OMIM:227646
HP:0004322	Short stature	2175	FANCA	ORPHA:84
HP:0004322	Short stature	2175	FANCA	OMIM:227650
HP:0004322	Short stature	2187	FANCB	ORPHA:84
HP:0004322	Short stature	2176	FANCC	ORPHA:84
HP:0004322	Short stature	2176	FANCC	OMIM:227645
HP:0004322	Short stature	2178	FANCE	ORPHA:84
HP:0004322	Short stature	2178	FANCE	OMIM:600901
HP:0004322	Short stature	2188	FANCF	ORPHA:84
HP:0004322	Short stature	2188	FANCF	OMIM:603467
HP:0004322	Short stature	2189	FANCG	ORPHA:84
HP:0004322	Short stature	5888	RAD51	ORPHA:84
HP:0004322	Short stature	5889	RAD51C	ORPHA:84
HP:0004322	Short stature	5889	RAD51C	OMIM:613390
HP:0004322	Short stature	55159	RFWD3	ORPHA:84
HP:0004322	Short stature	83990	BRIP1	ORPHA:84
HP:0004322	Short stature	57697	FANCM	ORPHA:84
HP:0004322	Short stature	79728	PALB2	ORPHA:84
HP:0004322	Short stature	55215	FANCI	ORPHA:84
HP:0004322	Short stature	55215	FANCI	OMIM:609053
HP:0004322	Short stature	546	ATRX	ORPHA:847
HP:0004322	Short stature	546	ATRX	OMIM:309580
HP:0004322	Short stature	23116	TOGARAM1	OMIM:619185
HP:0004322	Short stature	9184	BUB3	ORPHA:1052
HP:0004322	Short stature	699	BUB1	ORPHA:1052
HP:0004322	Short stature	9702	CEP57	ORPHA:1052
HP:0004322	Short stature	9702	CEP57	OMIM:614114
HP:0004322	Short stature	9319	TRIP13	ORPHA:1052
HP:0004322	Short stature	9319	TRIP13	OMIM:617598
HP:0004322	Short stature	701	BUB1B	ORPHA:1052
HP:0004322	Short stature	701	BUB1B	OMIM:257300
HP:0004322	Short stature	55148	UBR7	OMIM:619189
HP:0004322	Short stature	23545	ATP6V0A2	OMIM:278250
HP:0004322	Short stature	23545	ATP6V0A2	ORPHA:2834
HP:0004322	Short stature	23545	ATP6V0A2	ORPHA:357074
HP:0004322	Short stature	25942	SIN3A	OMIM:613406
HP:0004322	Short stature	25942	SIN3A	ORPHA:94065
HP:0004322	Short stature	10815	CPLX1	OMIM:194190
HP:0004322	Short stature	1487	CTBP1	OMIM:194190
HP:0004322	Short stature	53834	FGFRL1	OMIM:194190
HP:0004322	Short stature	3954	LETM1	OMIM:194190
HP:0004322	Short stature	10801	SEPTIN9	OMIM:162100
HP:0004322	Short stature	10801	SEPTIN9	ORPHA:2901
HP:0004322	Short stature	7840	ALMS1	ORPHA:64
HP:0004322	Short stature	7840	ALMS1	OMIM:203800
HP:0004322	Short stature	7025	NR2F1	ORPHA:401777
HP:0004322	Short stature	4318	MMP9	ORPHA:1040
HP:0004322	Short stature	4322	MMP13	ORPHA:1040
HP:0004322	Short stature	4322	MMP13	OMIM:250400
HP:0004322	Short stature	114548	NLRP3	OMIM:191900
HP:0004322	Short stature	114548	NLRP3	ORPHA:575
HP:0004322	Short stature	6201	RPS7	OMIM:612563
HP:0004322	Short stature	6201	RPS7	ORPHA:124
HP:0004322	Short stature	10908	PNPLA6	ORPHA:2377
HP:0004322	Short stature	10908	PNPLA6	ORPHA:1173
HP:0004322	Short stature	10908	PNPLA6	OMIM:275400
HP:0004322	Short stature	10908	PNPLA6	OMIM:245800
HP:0004322	Short stature	55717	WDR11	ORPHA:95496
HP:0004322	Short stature	6091	ROBO1	ORPHA:95496
HP:0004322	Short stature	6091	ROBO1	OMIM:620303
HP:0004322	Short stature	50937	CDON	ORPHA:95496
HP:0004322	Short stature	50937	CDON	ORPHA:220386
HP:0004322	Short stature	50937	CDON	ORPHA:280200
HP:0004322	Short stature	50937	CDON	ORPHA:93926
HP:0004322	Short stature	50937	CDON	ORPHA:93924
HP:0004322	Short stature	50937	CDON	ORPHA:93925
HP:0004322	Short stature	23432	GPR161	ORPHA:95496
HP:0004322	Short stature	11128	POLR3A	OMIM:264090
HP:0004322	Short stature	11128	POLR3A	OMIM:607694
HP:0004322	Short stature	11128	POLR3A	ORPHA:3455
HP:0004322	Short stature	11128	POLR3A	ORPHA:447896
HP:0004322	Short stature	8085	KMT2D	OMIM:620186
HP:0004322	Short stature	8085	KMT2D	ORPHA:2322
HP:0004322	Short stature	8085	KMT2D	OMIM:147920
HP:0004322	Short stature	10907	TXNL4A	OMIM:608572
HP:0004322	Short stature	10907	TXNL4A	ORPHA:1200
HP:0004322	Short stature	55343	SLC35C1	OMIM:266265
HP:0004322	Short stature	55343	SLC35C1	ORPHA:99843
HP:0004322	Short stature	3251	HPRT1	OMIM:300322
HP:0004322	Short stature	23522	KAT6B	ORPHA:85201
HP:0004322	Short stature	4256	MGP	ORPHA:85202
HP:0004322	Short stature	23261	CAMTA1	OMIM:614756
HP:0004322	Short stature	6605	SMARCE1	OMIM:616938
HP:0004322	Short stature	388015	RTL1	ORPHA:96334
HP:0004322	Short stature	388015	RTL1	ORPHA:96184
HP:0004322	Short stature	8788	DLK1	ORPHA:96334
HP:0004322	Short stature	8788	DLK1	ORPHA:96184
HP:0004322	Short stature	55384	MEG3	ORPHA:96334
HP:0004322	Short stature	55384	MEG3	ORPHA:96184
HP:0004322	Short stature	1962	EHHADH	OMIM:615605
HP:0004322	Short stature	695	BTK	ORPHA:47
HP:0004322	Short stature	695	BTK	OMIM:307200
HP:0004322	Short stature	415	ARSL	OMIM:302950
HP:0004322	Short stature	3977	LIFR	ORPHA:3206
HP:0004322	Short stature	3977	LIFR	OMIM:601559
HP:0004322	Short stature	10735	STAG2	ORPHA:521258
HP:0004322	Short stature	10735	STAG2	ORPHA:220386
HP:0004322	Short stature	10735	STAG2	ORPHA:93925
HP:0004322	Short stature	10735	STAG2	OMIM:301022
HP:0004322	Short stature	6611	SMS	OMIM:309583
HP:0004322	Short stature	6611	SMS	ORPHA:3063
HP:0004322	Short stature	545	ATR	ORPHA:808
HP:0004322	Short stature	1062	CENPE	ORPHA:808
HP:0004322	Short stature	1062	CENPE	OMIM:616051
HP:0004322	Short stature	1062	CENPE	ORPHA:2512
HP:0004322	Short stature	5116	PCNT	ORPHA:808
HP:0004322	Short stature	79902	NUP85	ORPHA:808
HP:0004322	Short stature	79902	NUP85	OMIM:618176
HP:0004322	Short stature	84126	ATRIP	ORPHA:808
HP:0004322	Short stature	10293	TRAIP	ORPHA:808
HP:0004322	Short stature	10293	TRAIP	OMIM:616777
HP:0004322	Short stature	1763	DNA2	ORPHA:808
HP:0004322	Short stature	1763	DNA2	OMIM:620819
HP:0004322	Short stature	1763	DNA2	OMIM:615807
HP:0004322	Short stature	22995	CEP152	ORPHA:808
HP:0004322	Short stature	22995	CEP152	OMIM:613823
HP:0004322	Short stature	22995	CEP152	ORPHA:2512
HP:0004322	Short stature	2961	GTF2E2	OMIM:616943
HP:0004322	Short stature	3339	HSPG2	ORPHA:800
HP:0004322	Short stature	3339	HSPG2	ORPHA:1606
HP:0004322	Short stature	3339	HSPG2	OMIM:255800
HP:0004322	Short stature	84876	ORAI1	ORPHA:3204
HP:0004322	Short stature	6786	STIM1	ORPHA:3204
HP:0004322	Short stature	6786	STIM1	OMIM:185070
HP:0004322	Short stature	6567	SLC16A2	ORPHA:59
HP:0004322	Short stature	1186	CLCN7	ORPHA:53
HP:0004322	Short stature	1186	CLCN7	OMIM:618541
HP:0004322	Short stature	57724	EPG5	ORPHA:1493
HP:0004322	Short stature	4204	MECP2	OMIM:312750
HP:0004322	Short stature	4204	MECP2	ORPHA:1762
HP:0004322	Short stature	4204	MECP2	ORPHA:3077
HP:0004322	Short stature	196528	ARID2	OMIM:617808
HP:0004322	Short stature	10535	RNASEH2A	ORPHA:51
HP:0004322	Short stature	84153	RNASEH2C	ORPHA:51
HP:0004322	Short stature	25939	SAMHD1	ORPHA:51
HP:0004322	Short stature	79621	RNASEH2B	ORPHA:51
HP:0004322	Short stature	103	ADAR	ORPHA:51
HP:0004322	Short stature	100147744	RNU7-1	ORPHA:51
HP:0004322	Short stature	134353	LSM11	ORPHA:51
HP:0004322	Short stature	64135	IFIH1	ORPHA:51
HP:0004322	Short stature	64135	IFIH1	OMIM:182250
HP:0004322	Short stature	4054	LTBP3	OMIM:617809
HP:0004322	Short stature	4054	LTBP3	OMIM:601216
HP:0004322	Short stature	10075	HUWE1	OMIM:309590
HP:0004322	Short stature	22856	CHSY1	ORPHA:363417
HP:0004322	Short stature	26160	IFT172	OMIM:615630
HP:0004322	Short stature	26160	IFT172	ORPHA:110
HP:0004322	Short stature	26160	IFT172	ORPHA:474
HP:0004322	Short stature	84529	CDIN1	OMIM:615631
HP:0004322	Short stature	2733	GLE1	ORPHA:1486
HP:0004322	Short stature	29123	ANKRD11	ORPHA:2332
HP:0004322	Short stature	29123	ANKRD11	OMIM:148050
HP:0004322	Short stature	9759	HDAC4	ORPHA:1001
HP:0004322	Short stature	9759	HDAC4	OMIM:600430
HP:0004322	Short stature	79650	USB1	OMIM:604173
HP:0004322	Short stature	79650	USB1	ORPHA:1775
HP:0004322	Short stature	4010	LMX1B	OMIM:161200
HP:0004322	Short stature	4010	LMX1B	ORPHA:2613
HP:0004322	Short stature	9150	CTDP1	OMIM:604168
HP:0004322	Short stature	9150	CTDP1	ORPHA:48431
HP:0004322	Short stature	473	RERE	OMIM:616975
HP:0004322	Short stature	473	RERE	ORPHA:1606
HP:0004322	Short stature	6905	TBCE	ORPHA:2323
HP:0004322	Short stature	7403	KDM6A	ORPHA:2322
HP:0004322	Short stature	7403	KDM6A	OMIM:300867
HP:0004322	Short stature	7403	KDM6A	OMIM:147920
HP:0004322	Short stature	7200	TRH	OMIM:275120
HP:0004322	Short stature	54820	NDE1	OMIM:605013
HP:0004322	Short stature	54820	NDE1	OMIM:614019
HP:0004322	Short stature	9837	GINS1	OMIM:617827
HP:0004322	Short stature	4000	LMNA	ORPHA:90153
HP:0004322	Short stature	4000	LMNA	ORPHA:79474
HP:0004322	Short stature	4000	LMNA	OMIM:151660
HP:0004322	Short stature	145873	MESP2	OMIM:277300
HP:0004322	Short stature	145873	MESP2	ORPHA:2311
HP:0004322	Short stature	10683	DLL3	OMIM:277300
HP:0004322	Short stature	10683	DLL3	ORPHA:2311
HP:0004322	Short stature	10269	ZMPSTE24	ORPHA:90154
HP:0004322	Short stature	5251	PHEX	OMIM:307800
HP:0004322	Short stature	6638	SNRPN	ORPHA:177904
HP:0004322	Short stature	6638	SNRPN	ORPHA:177901
HP:0004322	Short stature	6638	SNRPN	ORPHA:177910
HP:0004322	Short stature	6638	SNRPN	ORPHA:177907
HP:0004322	Short stature	6638	SNRPN	ORPHA:98754
HP:0004322	Short stature	4692	NDN	ORPHA:177904
HP:0004322	Short stature	4692	NDN	ORPHA:177901
HP:0004322	Short stature	4692	NDN	ORPHA:177910
HP:0004322	Short stature	4692	NDN	ORPHA:98754
HP:0004322	Short stature	4948	OCA2	ORPHA:177904
HP:0004322	Short stature	4948	OCA2	ORPHA:177901
HP:0004322	Short stature	4948	OCA2	ORPHA:98754
HP:0004322	Short stature	1588	CYP19A1	OMIM:139300
HP:0004322	Short stature	55906	ZC4H2	OMIM:314580
HP:0004322	Short stature	55906	ZC4H2	OMIM:301041
HP:0004322	Short stature	10560	SLC19A2	OMIM:249270
HP:0004322	Short stature	10560	SLC19A2	ORPHA:49827
HP:0004322	Short stature	2068	ERCC2	ORPHA:1466
HP:0004322	Short stature	2068	ERCC2	ORPHA:220295
HP:0004322	Short stature	2068	ERCC2	OMIM:601675
HP:0004322	Short stature	2068	ERCC2	ORPHA:910
HP:0004322	Short stature	2067	ERCC1	ORPHA:1466
HP:0004322	Short stature	2067	ERCC1	OMIM:610758
HP:0004322	Short stature	2074	ERCC6	ORPHA:1466
HP:0004322	Short stature	2073	ERCC5	ORPHA:1466
HP:0004322	Short stature	2073	ERCC5	ORPHA:220295
HP:0004322	Short stature	2073	ERCC5	ORPHA:910
HP:0004322	Short stature	4358	MPV17	OMIM:256810
HP:0004322	Short stature	134701	RIPPLY2	ORPHA:2311
HP:0004322	Short stature	3955	LFNG	ORPHA:2311
HP:0004322	Short stature	3955	LFNG	OMIM:609813
HP:0004322	Short stature	84667	HES7	ORPHA:2311
HP:0004322	Short stature	84667	HES7	OMIM:613686
HP:0004322	Short stature	79947	DHDDS	OMIM:617836
HP:0004322	Short stature	79947	DHDDS	ORPHA:442835
HP:0004322	Short stature	2138	EYA1	ORPHA:2792
HP:0004322	Short stature	5075	PAX1	ORPHA:2792
HP:0004322	Short stature	6678	SPARC	OMIM:616507
HP:0004322	Short stature	10804	GJB6	OMIM:129500
HP:0004322	Short stature	197131	UBR1	ORPHA:2315
HP:0004322	Short stature	197131	UBR1	OMIM:243800
HP:0004322	Short stature	4982	TNFRSF11B	OMIM:239000
HP:0004322	Short stature	4982	TNFRSF11B	ORPHA:2801
HP:0004322	Short stature	84188	FAR1	ORPHA:438178
HP:0004322	Short stature	4041	LRP5	ORPHA:2788
HP:0004322	Short stature	4041	LRP5	OMIM:259770
HP:0004322	Short stature	128637	TBC1D20	OMIM:615663
HP:0004322	Short stature	128637	TBC1D20	ORPHA:2510
HP:0004322	Short stature	79827	CLMP	ORPHA:2301
HP:0004322	Short stature	860	RUNX2	ORPHA:1452
HP:0004322	Short stature	860	RUNX2	OMIM:156510
HP:0004322	Short stature	860	RUNX2	OMIM:119600
HP:0004322	Short stature	7476	WNT7A	OMIM:613005
HP:0004322	Short stature	7476	WNT7A	OMIM:228930
HP:0004322	Short stature	26227	PHGDH	ORPHA:79351
HP:0004322	Short stature	2313	FLI1	ORPHA:2308
HP:0004322	Short stature	760	CA2	ORPHA:2785
HP:0004322	Short stature	760	CA2	OMIM:259730
HP:0004322	Short stature	9361	LONP1	ORPHA:1458
HP:0004322	Short stature	9361	LONP1	OMIM:600373
HP:0004322	Short stature	64840	PORCN	OMIM:305600
HP:0004322	Short stature	131669	UROC1	OMIM:276880
HP:0004322	Short stature	5352	PLOD2	ORPHA:2771
HP:0004322	Short stature	5352	PLOD2	OMIM:609220
HP:0004322	Short stature	60681	FKBP10	ORPHA:2771
HP:0004322	Short stature	60681	FKBP10	OMIM:259450
HP:0004322	Short stature	60681	FKBP10	OMIM:610968
HP:0004322	Short stature	8022	LHX3	OMIM:221750
HP:0004322	Short stature	8022	LHX3	ORPHA:231720
HP:0004322	Short stature	284252	KCTD1	OMIM:181270
HP:0004322	Short stature	122553	TRAPPC6B	OMIM:617862
HP:0004322	Short stature	2893	GRIA4	OMIM:617864
HP:0004322	Short stature	271	AMPD2	OMIM:615686
HP:0004322	Short stature	271	AMPD2	ORPHA:401805
HP:0004322	Short stature	139285	AMER1	OMIM:300373
HP:0004322	Short stature	4094	MAF	OMIM:601088
HP:0004322	Short stature	4094	MAF	ORPHA:1272
HP:0004322	Short stature	7518	XRCC4	OMIM:616541
HP:0004322	Short stature	650	BMP2	OMIM:617877
HP:0004322	Short stature	650	BMP2	ORPHA:261295
HP:0004322	Short stature	51099	ABHD5	ORPHA:98907
HP:0004322	Short stature	28514	DLL1	ORPHA:220386
HP:0004322	Short stature	28514	DLL1	ORPHA:280200
HP:0004322	Short stature	28514	DLL1	ORPHA:93926
HP:0004322	Short stature	28514	DLL1	ORPHA:93924
HP:0004322	Short stature	28514	DLL1	ORPHA:93925
HP:0004322	Short stature	2253	FGF8	ORPHA:220386
HP:0004322	Short stature	2253	FGF8	ORPHA:280200
HP:0004322	Short stature	2253	FGF8	ORPHA:93926
HP:0004322	Short stature	2253	FGF8	ORPHA:93924
HP:0004322	Short stature	2253	FGF8	ORPHA:93925
HP:0004322	Short stature	8243	SMC1A	ORPHA:220386
HP:0004322	Short stature	8243	SMC1A	OMIM:300590
HP:0004322	Short stature	8243	SMC1A	ORPHA:199
HP:0004322	Short stature	6496	SIX3	ORPHA:220386
HP:0004322	Short stature	6496	SIX3	ORPHA:280200
HP:0004322	Short stature	6496	SIX3	ORPHA:93926
HP:0004322	Short stature	6496	SIX3	ORPHA:93924
HP:0004322	Short stature	6496	SIX3	ORPHA:93925
HP:0004322	Short stature	7050	TGIF1	ORPHA:220386
HP:0004322	Short stature	7050	TGIF1	ORPHA:280200
HP:0004322	Short stature	7050	TGIF1	ORPHA:93926
HP:0004322	Short stature	7050	TGIF1	ORPHA:93924
HP:0004322	Short stature	7050	TGIF1	ORPHA:93925
HP:0004322	Short stature	4838	NODAL	ORPHA:220386
HP:0004322	Short stature	4838	NODAL	ORPHA:280200
HP:0004322	Short stature	4838	NODAL	ORPHA:93926
HP:0004322	Short stature	4838	NODAL	ORPHA:93924
HP:0004322	Short stature	4838	NODAL	ORPHA:93925
HP:0004322	Short stature	6469	SHH	ORPHA:220386
HP:0004322	Short stature	6469	SHH	ORPHA:280200
HP:0004322	Short stature	6469	SHH	OMIM:147250
HP:0004322	Short stature	6469	SHH	ORPHA:93926
HP:0004322	Short stature	6469	SHH	ORPHA:93924
HP:0004322	Short stature	6469	SHH	ORPHA:93925
HP:0004322	Short stature	6469	SHH	ORPHA:988
HP:0004322	Short stature	7546	ZIC2	ORPHA:220386
HP:0004322	Short stature	7546	ZIC2	ORPHA:280200
HP:0004322	Short stature	7546	ZIC2	ORPHA:93926
HP:0004322	Short stature	7546	ZIC2	ORPHA:93924
HP:0004322	Short stature	7546	ZIC2	ORPHA:93925
HP:0004322	Short stature	6491	STIL	ORPHA:220386
HP:0004322	Short stature	6491	STIL	ORPHA:93926
HP:0004322	Short stature	6491	STIL	ORPHA:93924
HP:0004322	Short stature	6491	STIL	ORPHA:93925
HP:0004322	Short stature	6491	STIL	ORPHA:2512
HP:0004322	Short stature	2619	GAS1	ORPHA:220386
HP:0004322	Short stature	2619	GAS1	ORPHA:280200
HP:0004322	Short stature	2619	GAS1	ORPHA:93926
HP:0004322	Short stature	2619	GAS1	ORPHA:93924
HP:0004322	Short stature	2619	GAS1	ORPHA:93925
HP:0004322	Short stature	84976	DISP1	ORPHA:220386
HP:0004322	Short stature	84976	DISP1	ORPHA:280200
HP:0004322	Short stature	84976	DISP1	ORPHA:93926
HP:0004322	Short stature	84976	DISP1	ORPHA:93924
HP:0004322	Short stature	84976	DISP1	ORPHA:93925
HP:0004322	Short stature	8928	FOXH1	ORPHA:220386
HP:0004322	Short stature	8928	FOXH1	ORPHA:280200
HP:0004322	Short stature	8928	FOXH1	ORPHA:93926
HP:0004322	Short stature	8928	FOXH1	ORPHA:93924
HP:0004322	Short stature	8928	FOXH1	ORPHA:93925
HP:0004322	Short stature	6997	CRIPTO	ORPHA:220386
HP:0004322	Short stature	6997	CRIPTO	ORPHA:280200
HP:0004322	Short stature	6997	CRIPTO	ORPHA:93926
HP:0004322	Short stature	6997	CRIPTO	ORPHA:93924
HP:0004322	Short stature	6997	CRIPTO	ORPHA:93925
HP:0004322	Short stature	5727	PTCH1	ORPHA:220386
HP:0004322	Short stature	5727	PTCH1	ORPHA:280200
HP:0004322	Short stature	5727	PTCH1	ORPHA:93926
HP:0004322	Short stature	5727	PTCH1	ORPHA:93924
HP:0004322	Short stature	5727	PTCH1	ORPHA:93925
HP:0004322	Short stature	57104	PNPLA2	ORPHA:98908
HP:0004322	Short stature	57104	PNPLA2	OMIM:610717
HP:0004322	Short stature	2806	GOT2	OMIM:618721
HP:0004322	Short stature	84700	MYO18B	OMIM:616549
HP:0004322	Short stature	5449	POU1F1	OMIM:613038
HP:0004322	Short stature	4750	NEK1	ORPHA:2751
HP:0004322	Short stature	4750	NEK1	OMIM:252100
HP:0004322	Short stature	8086	AAAS	OMIM:231550
HP:0004322	Short stature	8086	AAAS	ORPHA:869
HP:0004322	Short stature	6389	SDHA	OMIM:252011
HP:0004322	Short stature	79583	TMEM231	ORPHA:2754
HP:0004322	Short stature	10210	TOPORS	ORPHA:2754
HP:0004322	Short stature	9851	KIAA0753	ORPHA:2754
HP:0004322	Short stature	9851	KIAA0753	OMIM:619476
HP:0004322	Short stature	9851	KIAA0753	ORPHA:474
HP:0004322	Short stature	26123	TCTN3	ORPHA:2754
HP:0004322	Short stature	26123	TCTN3	OMIM:258860
HP:0004322	Short stature	5147	PDE6D	ORPHA:2754
HP:0004322	Short stature	65250	CPLANE1	ORPHA:2754
HP:0004322	Short stature	65250	CPLANE1	OMIM:277170
HP:0004322	Short stature	51259	TMEM216	ORPHA:2754
HP:0004322	Short stature	8481	OFD1	ORPHA:2754
HP:0004322	Short stature	8481	OFD1	OMIM:300804
HP:0004322	Short stature	8481	OFD1	OMIM:311200
HP:0004322	Short stature	317662	FAM149B1	ORPHA:2754
HP:0004322	Short stature	6609	SMPD1	OMIM:607616
HP:0004322	Short stature	6609	SMPD1	OMIM:257200
HP:0004322	Short stature	6609	SMPD1	ORPHA:77293
HP:0004322	Short stature	83452	RAB33B	OMIM:615222
HP:0004322	Short stature	7471	WNT1	OMIM:615220
HP:0004322	Short stature	9241	NOG	ORPHA:1412
HP:0004322	Short stature	80169	CTC1	OMIM:612199
HP:0004322	Short stature	80169	CTC1	ORPHA:1775
HP:0004322	Short stature	8626	TP63	ORPHA:1896
HP:0004322	Short stature	8626	TP63	OMIM:129400
HP:0004322	Short stature	10736	SIX2	ORPHA:488437
HP:0004322	Short stature	51763	INPP5K	OMIM:617404
HP:0004322	Short stature	4281	MID1	ORPHA:2745
HP:0004322	Short stature	529	ATP6V1E1	OMIM:617402
HP:0004322	Short stature	529	ATP6V1E1	ORPHA:357074
HP:0004322	Short stature	6655	SOS2	OMIM:616559
HP:0004322	Short stature	6655	SOS2	ORPHA:648
HP:0004322	Short stature	204219	CERS3	ORPHA:79394
HP:0004322	Short stature	285848	PNPLA1	ORPHA:79394
HP:0004322	Short stature	255758	DYNLT2B	OMIM:617405
HP:0004322	Short stature	246329	STAC3	OMIM:255995
HP:0004322	Short stature	246329	STAC3	ORPHA:168572
HP:0004322	Short stature	3762	KCNJ5	ORPHA:37553
HP:0004322	Short stature	3759	KCNJ2	ORPHA:37553
HP:0004322	Short stature	3759	KCNJ2	OMIM:170390
HP:0004322	Short stature	1497	CTNS	OMIM:219800
HP:0004322	Short stature	10617	STAMBP	OMIM:614261
HP:0004322	Short stature	8367	H4C5	OMIM:619950
HP:0004322	Short stature	23417	MLYCD	OMIM:248360
HP:0004322	Short stature	64682	ANAPC1	OMIM:618625
HP:0004322	Short stature	64682	ANAPC1	ORPHA:221008
HP:0004322	Short stature	755	CFAP410	OMIM:602271
HP:0004322	Short stature	755	CFAP410	OMIM:617547
HP:0004322	Short stature	4047	LSS	ORPHA:2850
HP:0004322	Short stature	197	AHSG	ORPHA:2850
HP:0004322	Short stature	3694	ITGB6	ORPHA:2850
HP:0004322	Short stature	79848	CSPP1	ORPHA:397715
HP:0004322	Short stature	9786	KIAA0586	ORPHA:397715
HP:0004322	Short stature	114803	MYSM1	ORPHA:508542
HP:0004322	Short stature	114803	MYSM1	OMIM:618116
HP:0004322	Short stature	1528	CYB5A	ORPHA:90796
HP:0004322	Short stature	1586	CYP17A1	ORPHA:90796
HP:0004322	Short stature	1028	CDKN1C	ORPHA:436144
HP:0004322	Short stature	526	ATP6V1B2	OMIM:616455
HP:0004322	Short stature	10730	YME1L1	OMIM:617302
HP:0004322	Short stature	4286	MITF	OMIM:617306
HP:0004322	Short stature	7486	WRN	OMIM:277700
HP:0004322	Short stature	7486	WRN	ORPHA:902
HP:0004322	Short stature	121340	SP7	ORPHA:1513
HP:0004322	Short stature	121340	SP7	OMIM:613849
HP:0004322	Short stature	1584	CYP11B1	ORPHA:90795
HP:0004322	Short stature	1584	CYP11B1	OMIM:202010
HP:0004322	Short stature	51684	SUFU	ORPHA:280200
HP:0004322	Short stature	60561	RINT1	OMIM:618641
HP:0004322	Short stature	10584	COLEC10	OMIM:248340
HP:0004322	Short stature	91869	RFT1	ORPHA:244310
HP:0004322	Short stature	91869	RFT1	OMIM:612015
HP:0004322	Short stature	816	CAMK2B	OMIM:617799
HP:0004322	Short stature	2200	FBN1	ORPHA:2833
HP:0004322	Short stature	2200	FBN1	OMIM:614185
HP:0004322	Short stature	2200	FBN1	OMIM:184900
HP:0004322	Short stature	2200	FBN1	ORPHA:2084
HP:0004322	Short stature	2200	FBN1	OMIM:608328
HP:0004322	Short stature	2200	FBN1	ORPHA:3449
HP:0004322	Short stature	55699	IARS2	ORPHA:436174
HP:0004322	Short stature	55699	IARS2	OMIM:616007
HP:0004322	Short stature	5426	POLE	OMIM:615139
HP:0004322	Short stature	79184	BRCC3	ORPHA:280679
HP:0004322	Short stature	2626	GATA4	ORPHA:251071
HP:0004322	Short stature	5354	PLP1	ORPHA:280210
HP:0004322	Short stature	5354	PLP1	OMIM:312080
HP:0004322	Short stature	1501	CTNND2	ORPHA:281
HP:0004322	Short stature	9037	SEMA5A	ORPHA:281
HP:0004322	Short stature	497661	C18orf32	OMIM:619985
HP:0004322	Short stature	26057	ANKRD17	OMIM:619504
HP:0004322	Short stature	3737	KCNA2	ORPHA:442835
HP:0004322	Short stature	1759	DNM1	ORPHA:442835
HP:0004322	Short stature	8120	AP3B2	ORPHA:442835
HP:0004322	Short stature	523	ATP6V1A	ORPHA:442835
HP:0004322	Short stature	523	ATP6V1A	ORPHA:357074
HP:0004322	Short stature	10991	SLC38A3	ORPHA:442835
HP:0004322	Short stature	51343	FZR1	ORPHA:442835
HP:0004322	Short stature	3747	KCNC2	ORPHA:442835
HP:0004322	Short stature	1917	EEF1A2	ORPHA:442835
HP:0004322	Short stature	23219	FBXO28	ORPHA:442835
HP:0004322	Short stature	2561	GABRB2	ORPHA:442835
HP:0004322	Short stature	8831	SYNGAP1	ORPHA:442835
HP:0004322	Short stature	2558	GABRA5	ORPHA:442835
HP:0004322	Short stature	2906	GRIN2D	ORPHA:442835
HP:0004322	Short stature	116150	NUS1	ORPHA:442835
HP:0004322	Short stature	1213	CLTC	ORPHA:442835
HP:0004322	Short stature	51741	WWOX	ORPHA:442835
HP:0004322	Short stature	23334	SZT2	ORPHA:442835
HP:0004322	Short stature	348980	HCN1	ORPHA:442835
HP:0004322	Short stature	25977	NECAP1	ORPHA:442835
HP:0004322	Short stature	23241	PACS2	ORPHA:442835
HP:0004322	Short stature	16	AARS1	ORPHA:442835
HP:0004322	Short stature	16	AARS1	OMIM:616339
HP:0004322	Short stature	6334	SCN8A	ORPHA:442835
HP:0004322	Short stature	9568	GABBR2	ORPHA:442835
HP:0004322	Short stature	2555	GABRA2	ORPHA:442835
HP:0004322	Short stature	55152	DALRD3	ORPHA:442835
HP:0004322	Short stature	26999	CYFIP2	ORPHA:442835
HP:0004322	Short stature	4915	NTRK2	ORPHA:442835
HP:0004322	Short stature	25973	PARS2	ORPHA:442835
HP:0004322	Short stature	23097	CDK19	ORPHA:442835
HP:0004322	Short stature	2257	FGF12	ORPHA:442835
HP:0004322	Short stature	5530	PPP3CA	ORPHA:442835
HP:0004322	Short stature	5530	PPP3CA	OMIM:618265
HP:0004322	Short stature	5530	PPP3CA	OMIM:617711
HP:0004322	Short stature	478	ATP1A3	ORPHA:442835
HP:0004322	Short stature	22906	TRAK1	ORPHA:442835
HP:0004322	Short stature	2566	GABRG2	ORPHA:442835
HP:0004322	Short stature	7532	YWHAG	ORPHA:442835
HP:0004322	Short stature	79876	UBA5	ORPHA:442835
HP:0004322	Short stature	79876	UBA5	OMIM:617132
HP:0004322	Short stature	6328	SCN3A	ORPHA:442835
HP:0004322	Short stature	781	CACNA2D1	ORPHA:442835
HP:0004322	Short stature	10659	CELF2	ORPHA:442835
HP:0004322	Short stature	774	CACNA1B	ORPHA:442835
HP:0004322	Short stature	51412	ACTL6B	ORPHA:442835
HP:0004322	Short stature	2290	FOXG1	ORPHA:442835
HP:0004322	Short stature	6506	SLC1A2	ORPHA:442835
HP:0004322	Short stature	8867	SYNJ1	ORPHA:442835
HP:0004322	Short stature	477	ATP1A2	ORPHA:442835
HP:0004322	Short stature	3745	KCNB1	ORPHA:442835
HP:0004322	Short stature	284111	SLC13A5	ORPHA:442835
HP:0004322	Short stature	284111	SLC13A5	ORPHA:1946
HP:0004322	Short stature	22866	CNKSR2	ORPHA:442835
HP:0004322	Short stature	773	CACNA1A	ORPHA:442835
HP:0004322	Short stature	6323	SCN1A	ORPHA:442835
HP:0004322	Short stature	55623	THUMPD1	OMIM:619989
HP:0004322	Short stature	3476	IGBP1	ORPHA:52055
HP:0004322	Short stature	3476	IGBP1	OMIM:300472
HP:0004322	Short stature	3981	LIG4	ORPHA:235
HP:0004322	Short stature	54888	NSUN2	ORPHA:235
HP:0004322	Short stature	54888	NSUN2	OMIM:611091
HP:0004322	Short stature	253738	EBF3	OMIM:617330
HP:0004322	Short stature	253738	EBF3	ORPHA:96148
HP:0004322	Short stature	56006	SMG9	OMIM:619995
HP:0004322	Short stature	85301	COL27A1	OMIM:615155
HP:0004322	Short stature	7862	BRPF1	OMIM:617333
HP:0004322	Short stature	9453	GGPS1	OMIM:619518
HP:0004322	Short stature	1660	DHX9	OMIM:620988
HP:0004322	Short stature	5295	PIK3R1	OMIM:616005
HP:0004322	Short stature	286	ANK1	ORPHA:251066
HP:0004322	Short stature	554	AVPR2	ORPHA:223
HP:0004322	Short stature	554	AVPR2	OMIM:304800
HP:0004322	Short stature	359	AQP2	ORPHA:223
HP:0004322	Short stature	359	AQP2	OMIM:125800
HP:0004322	Short stature	26137	ZBTB20	OMIM:259050
HP:0004322	Short stature	26137	ZBTB20	ORPHA:3042
HP:0004322	Short stature	7750	ZMYM2	OMIM:619522
HP:0004322	Short stature	2720	GLB1	OMIM:230650
HP:0004322	Short stature	8792	TNFRSF11A	ORPHA:2801
HP:0004322	Short stature	8792	TNFRSF11A	ORPHA:1782
HP:0004322	Short stature	6621	SNAPC4	OMIM:620515
HP:0004322	Short stature	57492	ARID1B	ORPHA:251056
HP:0004322	Short stature	57492	ARID1B	OMIM:135900
HP:0004322	Short stature	4626	MYH8	OMIM:158300
HP:0004322	Short stature	4626	MYH8	ORPHA:3377
HP:0004322	Short stature	3835	KIF22	OMIM:603546
HP:0004322	Short stature	3835	KIF22	ORPHA:93360
HP:0004322	Short stature	79989	IFT56	OMIM:619534
HP:0004322	Short stature	9922	IQSEC1	OMIM:618687
HP:0004322	Short stature	85365	ALG2	OMIM:607906
HP:0004322	Short stature	4193	MDM2	OMIM:618681
HP:0004322	Short stature	84522	JAGN1	OMIM:616022
HP:0004322	Short stature	57479	PRR12	OMIM:619539
HP:0004322	Short stature	79977	GRHL2	OMIM:616029
HP:0004322	Short stature	3172	HNF4A	OMIM:616026
HP:0004322	Short stature	79641	ROGDI	ORPHA:1946
HP:0004322	Short stature	29893	PSMC3IP	ORPHA:243
HP:0004322	Short stature	171568	POLR3H	ORPHA:243
HP:0004322	Short stature	2516	NR5A1	ORPHA:243
HP:0004322	Short stature	125150	ZSWIM7	ORPHA:243
HP:0004322	Short stature	9210	BMP15	ORPHA:243
HP:0004322	Short stature	23514	SPIDR	ORPHA:243
HP:0004322	Short stature	2492	FSHR	ORPHA:243
HP:0004322	Short stature	56945	MRPS22	ORPHA:243
HP:0004322	Short stature	646	BNC1	ORPHA:243
HP:0004322	Short stature	4438	MSH4	ORPHA:243
HP:0004322	Short stature	6595	SMARCA2	OMIM:601358
HP:0004322	Short stature	10058	ABCB6	ORPHA:241
HP:0004322	Short stature	6261	RYR1	OMIM:619542
HP:0004322	Short stature	8621	CDK13	OMIM:617360
HP:0004322	Short stature	93587	TRMT10A	OMIM:616033
HP:0004322	Short stature	6654	SOS1	OMIM:610733
HP:0004322	Short stature	6654	SOS1	ORPHA:648
HP:0004322	Short stature	6778	STAT6	OMIM:620532
HP:0004322	Short stature	8803	SUCLA2	ORPHA:1933
HP:0004322	Short stature	8803	SUCLA2	OMIM:612073
HP:0004322	Short stature	2737	GLI3	ORPHA:672
HP:0004322	Short stature	2737	GLI3	OMIM:146510
HP:0004322	Short stature	5076	PAX2	ORPHA:97362
HP:0004322	Short stature	5076	PAX2	OMIM:120330
HP:0004322	Short stature	5087	PBX1	ORPHA:97362
HP:0004322	Short stature	10466	COG5	ORPHA:263487
HP:0004322	Short stature	10466	COG5	OMIM:613612
HP:0004322	Short stature	6909	TBX2	OMIM:618223
HP:0004322	Short stature	55628	ZNF407	OMIM:619557
HP:0004322	Short stature	23363	OBSL1	OMIM:612921
HP:0004322	Short stature	23363	OBSL1	ORPHA:2616
HP:0004322	Short stature	5745	PTH1R	OMIM:600002
HP:0004322	Short stature	5745	PTH1R	ORPHA:79106
HP:0004322	Short stature	58484	NLRC4	OMIM:616050
HP:0004322	Short stature	55869	HDAC8	OMIM:300882
HP:0004322	Short stature	55869	HDAC8	ORPHA:3459
HP:0004322	Short stature	55869	HDAC8	ORPHA:199
HP:0004322	Short stature	1349	COX7B	OMIM:300887
HP:0004322	Short stature	1349	COX7B	OMIM:309801
HP:0004322	Short stature	1387	CREBBP	ORPHA:353281
HP:0004322	Short stature	1387	CREBBP	ORPHA:353277
HP:0004322	Short stature	1387	CREBBP	OMIM:180849
HP:0004322	Short stature	1387	CREBBP	ORPHA:592574
HP:0004322	Short stature	59341	TRPV4	OMIM:617383
HP:0004322	Short stature	59341	TRPV4	ORPHA:93304
HP:0004322	Short stature	59341	TRPV4	OMIM:184095
HP:0004322	Short stature	59341	TRPV4	OMIM:606071
HP:0004322	Short stature	9342	SNAP29	ORPHA:66631
HP:0004322	Short stature	79048	SECISBP2	ORPHA:171706
HP:0004322	Short stature	79048	SECISBP2	OMIM:609698
HP:0004322	Short stature	23314	SATB2	ORPHA:251019
HP:0004322	Short stature	23314	SATB2	OMIM:612313
HP:0004322	Short stature	2033	EP300	ORPHA:353284
HP:0004322	Short stature	2033	EP300	OMIM:613684
HP:0004322	Short stature	2033	EP300	OMIM:180849
HP:0004322	Short stature	26128	KIFBP	ORPHA:66629
HP:0004322	Short stature	2710	GK	OMIM:307030
HP:0004322	Short stature	9126	SMC3	OMIM:610759
HP:0004322	Short stature	9126	SMC3	ORPHA:199
HP:0004322	Short stature	57551	TAOK1	OMIM:619575
HP:0004322	Short stature	10940	POP1	OMIM:617396
HP:0004322	Short stature	56915	EXOSC5	OMIM:619576
HP:0004322	Short stature	8260	NAA10	OMIM:300855
HP:0004322	Short stature	8260	NAA10	ORPHA:568
HP:0004322	Short stature	9820	CUL7	OMIM:273750
HP:0004322	Short stature	9820	CUL7	ORPHA:2616
HP:0004322	Short stature	10092	ARPC5	OMIM:620565
HP:0004322	Short stature	23203	PMPCA	OMIM:213200
HP:0004322	Short stature	23203	PMPCA	ORPHA:1170
HP:0004322	Short stature	10483	SEC23B	ORPHA:201
HP:0004322	Short stature	5728	PTEN	ORPHA:201
HP:0004322	Short stature	5728	PTEN	ORPHA:79076
HP:0004322	Short stature	5728	PTEN	ORPHA:109
HP:0004322	Short stature	6390	SDHB	ORPHA:201
HP:0004322	Short stature	6392	SDHD	ORPHA:201
HP:0004322	Short stature	6391	SDHC	ORPHA:201
HP:0004322	Short stature	207	AKT1	ORPHA:201
HP:0004322	Short stature	205717	USF3	ORPHA:201
HP:0004322	Short stature	5290	PIK3CA	ORPHA:201
HP:0004322	Short stature	100144748	KLLN	ORPHA:201
HP:0004322	Short stature	10013	HDAC6	OMIM:300863
HP:0004322	Short stature	10013	HDAC6	ORPHA:163966
HP:0004322	Short stature	9451	EIF2AK3	OMIM:226980
HP:0004322	Short stature	9451	EIF2AK3	ORPHA:1667
HP:0004322	Short stature	5277	PIGA	OMIM:300868
HP:0004322	Short stature	23384	SPECC1L	OMIM:145420
HP:0004322	Short stature	5000	ORC4	OMIM:613800
HP:0004322	Short stature	5573	PRKAR1A	OMIM:101800
HP:0004322	Short stature	5573	PRKAR1A	ORPHA:950
HP:0004322	Short stature	4990	SIX6	OMIM:206900
HP:0004322	Short stature	81620	CDT1	OMIM:613804
HP:0004322	Short stature	23594	ORC6	OMIM:613803
HP:0004322	Short stature	990	CDC6	OMIM:613805
HP:0004322	Short stature	1300	COL10A1	OMIM:156500
HP:0004322	Short stature	3975	LHX1	ORPHA:261265
HP:0004322	Short stature	6928	HNF1B	ORPHA:261265
HP:0004322	Short stature	6928	HNF1B	ORPHA:2578
HP:0004322	Short stature	1277	COL1A1	OMIM:619115
HP:0004322	Short stature	1277	COL1A1	OMIM:166220
HP:0004322	Short stature	29895	MYL11	OMIM:619110
HP:0004322	Short stature	10847	SRCAP	OMIM:619595
HP:0004322	Short stature	10847	SRCAP	ORPHA:2044
HP:0004322	Short stature	10847	SRCAP	OMIM:136140
HP:0004322	Short stature	400916	CHCHD10	ORPHA:457050
HP:0004322	Short stature	400916	CHCHD10	OMIM:616209
HP:0004322	Short stature	6513	SLC2A1	ORPHA:168577
HP:0004322	Short stature	6513	SLC2A1	OMIM:608885
HP:0004322	Short stature	1836	SLC26A2	ORPHA:628
HP:0004322	Short stature	1836	SLC26A2	OMIM:226900
HP:0004322	Short stature	79809	TTC21B	OMIM:613819
HP:0004322	Short stature	79809	TTC21B	ORPHA:474
HP:0004322	Short stature	10651	MTX2	OMIM:619127
HP:0004322	Short stature	1278	COL1A2	OMIM:619120
HP:0004322	Short stature	1278	COL1A2	OMIM:166220
HP:0004322	Short stature	1278	COL1A2	ORPHA:230851
HP:0004322	Short stature	22983	MAST1	OMIM:618273
HP:0004322	Short stature	55755	CDK5RAP2	OMIM:604804
HP:0004322	Short stature	55755	CDK5RAP2	ORPHA:2512
HP:0004322	Short stature	28956	LAMTOR2	OMIM:610798
HP:0004322	Short stature	28956	LAMTOR2	ORPHA:90023
HP:0004322	Short stature	118924	FRA10AC1	OMIM:620113
HP:0004322	Short stature	4148	MATN3	OMIM:607078
HP:0004322	Short stature	4148	MATN3	ORPHA:156728
HP:0004322	Short stature	9895	TECPR2	ORPHA:320385
HP:0004322	Short stature	9895	TECPR2	OMIM:615031
HP:0004322	Short stature	3739	KCNA4	OMIM:618284
HP:0004322	Short stature	23259	DDHD2	ORPHA:320380
HP:0004322	Short stature	23259	DDHD2	OMIM:615033
HP:0004322	Short stature	22800	RRAS2	ORPHA:648
HP:0004322	Short stature	867	CBL	ORPHA:648
HP:0004322	Short stature	867	CBL	OMIM:613563
HP:0004322	Short stature	6016	RIT1	ORPHA:648
HP:0004322	Short stature	6016	RIT1	OMIM:615355
HP:0004322	Short stature	6237	RRAS	ORPHA:648
HP:0004322	Short stature	5894	RAF1	ORPHA:648
HP:0004322	Short stature	5894	RAF1	OMIM:611554
HP:0004322	Short stature	5894	RAF1	OMIM:611553
HP:0004322	Short stature	5894	RAF1	ORPHA:500
HP:0004322	Short stature	22808	MRAS	ORPHA:648
HP:0004322	Short stature	22808	MRAS	OMIM:618499
HP:0004322	Short stature	3845	KRAS	ORPHA:648
HP:0004322	Short stature	3845	KRAS	OMIM:163200
HP:0004322	Short stature	3845	KRAS	ORPHA:1340
HP:0004322	Short stature	3845	KRAS	OMIM:609942
HP:0004322	Short stature	200734	SPRED2	ORPHA:648
HP:0004322	Short stature	200734	SPRED2	OMIM:619745
HP:0004322	Short stature	4893	NRAS	ORPHA:648
HP:0004322	Short stature	4893	NRAS	OMIM:163200
HP:0004322	Short stature	4893	NRAS	OMIM:613224
HP:0004322	Short stature	5781	PTPN11	ORPHA:648
HP:0004322	Short stature	5781	PTPN11	ORPHA:500
HP:0004322	Short stature	5781	PTPN11	OMIM:151100
HP:0004322	Short stature	5781	PTPN11	OMIM:163950
HP:0004322	Short stature	5922	RASA2	ORPHA:648
HP:0004322	Short stature	4683	NBN	ORPHA:647
HP:0004322	Short stature	4683	NBN	OMIM:251260
HP:0004322	Short stature	4508	MT-ATP6	ORPHA:644
HP:0004322	Short stature	4508	MT-ATP6	ORPHA:254913
HP:0004322	Short stature	5257	PHKB	OMIM:261750
HP:0004322	Short stature	5257	PHKB	ORPHA:79240
HP:0004322	Short stature	8665	EIF3F	OMIM:618295
HP:0004322	Short stature	9652	SKIC3	ORPHA:84064
HP:0004322	Short stature	9652	SKIC3	OMIM:222470
HP:0004322	Short stature	6499	SKIC2	ORPHA:84064
HP:0004322	Short stature	8517	IKBKG	OMIM:308300
HP:0004322	Short stature	8517	IKBKG	ORPHA:464
HP:0004322	Short stature	871	SERPINH1	OMIM:613848
HP:0004322	Short stature	11005	SPINK5	ORPHA:634
HP:0004322	Short stature	7337	UBE3A	ORPHA:238446
HP:0004322	Short stature	4621	MYH3	ORPHA:2053
HP:0004322	Short stature	4621	MYH3	ORPHA:1147
HP:0004322	Short stature	4621	MYH3	ORPHA:2990
HP:0004322	Short stature	4621	MYH3	OMIM:618436
HP:0004322	Short stature	4621	MYH3	OMIM:178110
HP:0004322	Short stature	259232	NALCN	ORPHA:2053
HP:0004322	Short stature	259232	NALCN	ORPHA:562528
HP:0004322	Short stature	259232	NALCN	ORPHA:1147
HP:0004322	Short stature	259232	NALCN	ORPHA:371364
HP:0004322	Short stature	10262	SF3B4	OMIM:154400
HP:0004322	Short stature	10491	CRTAP	ORPHA:2050
HP:0004322	Short stature	10491	CRTAP	OMIM:610682
HP:0004322	Short stature	9871	SEC24D	ORPHA:2050
HP:0004322	Short stature	9871	SEC24D	OMIM:616294
HP:0004322	Short stature	23019	CNOT1	OMIM:619033
HP:0004322	Short stature	145173	B3GLCT	ORPHA:709
HP:0004322	Short stature	7109	TRAPPC10	OMIM:620027
HP:0004322	Short stature	7109	TRAPPC10	ORPHA:2512
HP:0004322	Short stature	10274	STAG1	ORPHA:502434
HP:0004322	Short stature	1119	CHKA	OMIM:620023
HP:0004322	Short stature	8496	PPFIBP1	OMIM:620024
HP:0004322	Short stature	5111	PCNA	OMIM:615919
HP:0004322	Short stature	5111	PCNA	ORPHA:438134
HP:0004322	Short stature	2617	GARS1	OMIM:619042
HP:0004322	Short stature	170302	ARX	OMIM:300004
HP:0004322	Short stature	170302	ARX	ORPHA:2508
HP:0004322	Short stature	162	AP1B1	OMIM:242150
HP:0004322	Short stature	1184	CLCN5	OMIM:300009
HP:0004322	Short stature	1184	CLCN5	OMIM:300554
HP:0004322	Short stature	1184	CLCN5	OMIM:308990
HP:0004322	Short stature	23431	AP4E1	OMIM:613744
HP:0004322	Short stature	23431	AP4E1	ORPHA:280763
HP:0004322	Short stature	25782	RAB3GAP2	OMIM:212720
HP:0004322	Short stature	25782	RAB3GAP2	ORPHA:2510
HP:0004322	Short stature	25782	RAB3GAP2	ORPHA:1387
HP:0004322	Short stature	5744	PTHLH	ORPHA:93387
HP:0004322	Short stature	5744	PTHLH	OMIM:613382
HP:0004322	Short stature	3239	HOXD13	ORPHA:93387
HP:0004322	Short stature	658	BMPR1B	ORPHA:93384
HP:0004322	Short stature	658	BMPR1B	ORPHA:93388
HP:0004322	Short stature	658	BMPR1B	ORPHA:2639
HP:0004322	Short stature	10472	ZBTB18	ORPHA:36367
HP:0004322	Short stature	10472	ZBTB18	OMIM:612337
HP:0004322	Short stature	7298	TYMS	OMIM:620040
HP:0004322	Short stature	7298	TYMS	ORPHA:1775
HP:0004322	Short stature	51204	TACO1	OMIM:619052
HP:0004322	Short stature	28958	COA3	OMIM:619058
HP:0004322	Short stature	8647	ABCB11	OMIM:601847
HP:0004322	Short stature	1351	COX8A	OMIM:619059
HP:0004322	Short stature	4509	MT-ATP8	ORPHA:254913
HP:0004322	Short stature	4509	MT-ATP8	ORPHA:480
HP:0004322	Short stature	514	ATP5F1E	ORPHA:254913
HP:0004322	Short stature	513	ATP5F1D	ORPHA:254913
HP:0004322	Short stature	513	ATP5F1D	OMIM:618120
HP:0004322	Short stature	498	ATP5F1A	ORPHA:254913
HP:0004322	Short stature	84833	ATP5MK	ORPHA:254913
HP:0004322	Short stature	91647	ATPAF2	ORPHA:254913
HP:0004322	Short stature	9739	SETD1A	OMIM:619056
HP:0004322	Short stature	340024	SLC6A19	OMIM:234500
HP:0004322	Short stature	340024	SLC6A19	ORPHA:2116
HP:0004322	Short stature	3117	HLA-DQA1	OMIM:212750
HP:0004322	Short stature	3119	HLA-DQB1	OMIM:212750
HP:0004322	Short stature	8289	ARID1A	OMIM:614607
HP:0004322	Short stature	7080	NKX2-1	ORPHA:209905
HP:0004322	Short stature	7080	NKX2-1	ORPHA:95713
HP:0004322	Short stature	6598	SMARCB1	OMIM:614608
HP:0004322	Short stature	6597	SMARCA4	OMIM:614609
HP:0004322	Short stature	22	ABCB7	OMIM:301310
HP:0004322	Short stature	1327	COX4I1	OMIM:619060
HP:0004322	Short stature	54476	RNF216	ORPHA:1173
HP:0004322	Short stature	4212	MEIS2	OMIM:600987
HP:0004322	Short stature	4212	MEIS2	ORPHA:261190
HP:0004322	Short stature	26053	AUTS2	ORPHA:352490
HP:0004322	Short stature	26053	AUTS2	OMIM:615834
HP:0004322	Short stature	4697	NDUFA4	OMIM:619065
HP:0004322	Short stature	4591	TRIM37	OMIM:253250
HP:0004322	Short stature	4591	TRIM37	ORPHA:2576
HP:0004322	Short stature	79813	EHMT1	OMIM:610253
HP:0004322	Short stature	79813	EHMT1	ORPHA:261652
HP:0004322	Short stature	1301	COL11A1	ORPHA:2021
HP:0004322	Short stature	1301	COL11A1	ORPHA:560
HP:0004322	Short stature	1301	COL11A1	OMIM:154780
HP:0004322	Short stature	1302	COL11A2	ORPHA:2021
HP:0004322	Short stature	1302	COL11A2	OMIM:215150
HP:0004322	Short stature	657	BMPR1A	ORPHA:79076
HP:0004322	Short stature	10382	TUBB4A	OMIM:612438
HP:0004322	Short stature	55154	MSTO1	ORPHA:502423
HP:0004322	Short stature	55154	MSTO1	OMIM:617675
HP:0004322	Short stature	3265	HRAS	OMIM:218040
HP:0004322	Short stature	3265	HRAS	OMIM:163200
HP:0004322	Short stature	3265	HRAS	ORPHA:3071
HP:0004322	Short stature	6197	RPS6KA3	ORPHA:276630
HP:0004322	Short stature	6197	RPS6KA3	OMIM:303600
HP:0004322	Short stature	6197	RPS6KA3	ORPHA:192
HP:0004322	Short stature	2335	FN1	OMIM:184255
HP:0004322	Short stature	2335	FN1	ORPHA:93315
HP:0004322	Short stature	1802	DPH2	OMIM:620062
HP:0004322	Short stature	1802	DPH2	ORPHA:459061
HP:0004322	Short stature	6521	SLC4A1	OMIM:611590
HP:0004322	Short stature	6774	STAT3	OMIM:615952
HP:0004322	Short stature	9719	ADAMTSL2	OMIM:231050
HP:0004322	Short stature	55027	HEATR3	OMIM:620072
HP:0004322	Short stature	55027	HEATR3	ORPHA:124
HP:0004322	Short stature	51611	DPH5	OMIM:620070
HP:0004322	Short stature	8905	AP1S2	ORPHA:85329
HP:0004322	Short stature	58508	KMT2C	ORPHA:261652
HP:0004322	Short stature	4089	SMAD4	OMIM:139210
HP:0004322	Short stature	9321	TRIP11	OMIM:184260
HP:0004322	Short stature	9321	TRIP11	ORPHA:166272
HP:0004322	Short stature	25970	SH2B1	ORPHA:329249
HP:0004322	Short stature	1654	DDX3X	ORPHA:3338
HP:0004322	Short stature	8838	CCN6	ORPHA:1159
HP:0004322	Short stature	84919	PPP1R15B	OMIM:616817
HP:0004322	Short stature	6231	RPS26	OMIM:613309
HP:0004322	Short stature	6231	RPS26	ORPHA:124
HP:0004322	Short stature	2006	ELN	OMIM:194050
HP:0004322	Short stature	2006	ELN	ORPHA:904
HP:0004322	Short stature	51085	MLXIPL	OMIM:194050
HP:0004322	Short stature	3178	HNRNPA1	ORPHA:52430
HP:0004322	Short stature	7415	VCP	ORPHA:52430
HP:0004322	Short stature	3181	HNRNPA2B1	ORPHA:52430
HP:0004322	Short stature	3187	HNRNPH1	OMIM:620083
HP:0004322	Short stature	4920	ROR2	OMIM:268310
HP:0004322	Short stature	22880	MORC2	OMIM:619090
HP:0004322	Short stature	50484	RRM2B	OMIM:268315
HP:0004322	Short stature	50484	RRM2B	ORPHA:480
HP:0004322	Short stature	7140	TNNT3	ORPHA:1147
HP:0004322	Short stature	7136	TNNI2	ORPHA:1147
HP:0004322	Short stature	7136	TNNI2	OMIM:601680
HP:0004322	Short stature	5167	ENPP1	OMIM:613312
HP:0004322	Short stature	5167	ENPP1	ORPHA:289176
HP:0004322	Short stature	5167	ENPP1	OMIM:208000
HP:0004322	Short stature	8195	MKKS	ORPHA:2473
HP:0004322	Short stature	8195	MKKS	ORPHA:110
HP:0004322	Short stature	51750	RTEL1	ORPHA:3322
HP:0004322	Short stature	51750	RTEL1	ORPHA:1775
HP:0004322	Short stature	65057	ACD	ORPHA:3322
HP:0004322	Short stature	5073	PARN	ORPHA:3322
HP:0004322	Short stature	5073	PARN	ORPHA:1775
HP:0004322	Short stature	7015	TERT	ORPHA:3322
HP:0004322	Short stature	7015	TERT	OMIM:613989
HP:0004322	Short stature	7015	TERT	ORPHA:1775
HP:0004322	Short stature	26277	TINF2	ORPHA:3322
HP:0004322	Short stature	26277	TINF2	OMIM:613990
HP:0004322	Short stature	26277	TINF2	ORPHA:1775
HP:0004322	Short stature	1736	DKC1	ORPHA:3322
HP:0004322	Short stature	1736	DKC1	OMIM:305000
HP:0004322	Short stature	1736	DKC1	ORPHA:1775
HP:0004322	Short stature	9775	EIF4A3	OMIM:268305
HP:0004322	Short stature	29072	SETD2	OMIM:616831
HP:0004322	Short stature	51025	PAM16	OMIM:613320
HP:0004322	Short stature	3897	L1CAM	ORPHA:2466
HP:0004322	Short stature	3897	L1CAM	OMIM:303350
HP:0004322	Short stature	4352	MPL	ORPHA:3319
HP:0004322	Short stature	7066	THPO	ORPHA:3319
HP:0004322	Short stature	10664	CTCF	OMIM:615502
HP:0004322	Short stature	6307	MSMO1	OMIM:616834
HP:0004322	Short stature	55112	DYNC2I1	OMIM:615503
HP:0004322	Short stature	55112	DYNC2I1	ORPHA:474
HP:0004322	Short stature	9780	PIEZO1	OMIM:616843
HP:0004322	Short stature	22845	DOLK	ORPHA:91131
HP:0004322	Short stature	411	ARSB	OMIM:253200
HP:0004322	Short stature	10525	HYOU1	OMIM:233600
HP:0004322	Short stature	55784	MCTP2	ORPHA:1596
HP:0004322	Short stature	26224	FBXL3	OMIM:606220
HP:0004322	Short stature	11253	MAN1B1	OMIM:614202
HP:0004322	Short stature	5925	RB1	ORPHA:1587
HP:0004322	Short stature	27315	PGAP2	OMIM:614207
HP:0004322	Short stature	83987	CCDC8	OMIM:614205
HP:0004322	Short stature	83987	CCDC8	ORPHA:2616
HP:0004322	Short stature	64093	SMOC1	ORPHA:1106
HP:0004322	Short stature	80185	TTI2	OMIM:615541
HP:0004322	Short stature	80185	TTI2	ORPHA:391307
HP:0004322	Short stature	3758	KCNJ1	OMIM:241200
HP:0004322	Short stature	547	KIF1A	OMIM:614213
HP:0004322	Short stature	1001	CDH3	ORPHA:1573
HP:0004322	Short stature	3418	IDH2	ORPHA:163634
HP:0004322	Short stature	3417	IDH1	ORPHA:163634
HP:0004322	Short stature	3417	IDH1	ORPHA:99646
HP:0004322	Short stature	55644	OSGEP	OMIM:617729
HP:0004322	Short stature	55644	OSGEP	ORPHA:2065
HP:0004322	Short stature	112858	TP53RK	OMIM:617730
HP:0004322	Short stature	112858	TP53RK	ORPHA:2065
HP:0004322	Short stature	284086	NEK8	OMIM:620903
HP:0004322	Short stature	54361	WNT4	ORPHA:247768
HP:0004322	Short stature	54361	WNT4	ORPHA:2578
HP:0004322	Short stature	1857	DVL3	OMIM:616894
HP:0004322	Short stature	1857	DVL3	ORPHA:3107
HP:0004322	Short stature	83737	ITCH	OMIM:613385
HP:0004322	Short stature	4780	NFE2L2	OMIM:617744
HP:0004322	Short stature	6569	SLC34A1	OMIM:613388
HP:0004322	Short stature	6569	SLC34A1	ORPHA:157215
HP:0004322	Short stature	2071	ERCC3	ORPHA:220295
HP:0004322	Short stature	2071	ERCC3	OMIM:616390
HP:0004322	Short stature	2071	ERCC3	OMIM:610651
HP:0004322	Short stature	2071	ERCC3	ORPHA:910
HP:0004322	Short stature	9215	LARGE1	OMIM:608840
HP:0004322	Short stature	3756	KCNH1	ORPHA:420561
HP:0004322	Short stature	10717	AP4B1	ORPHA:280763
HP:0004322	Short stature	10717	AP4B1	OMIM:614066
HP:0004322	Short stature	9179	AP4M1	ORPHA:280763
HP:0004322	Short stature	11154	AP4S1	ORPHA:280763
HP:0004322	Short stature	11154	AP4S1	OMIM:614067
HP:0004322	Short stature	2186	BPTF	OMIM:617755
HP:0004322	Short stature	2990	GUSB	OMIM:253220
HP:0004322	Short stature	6913	TBX15	ORPHA:93333
HP:0004322	Short stature	9469	CHST3	OMIM:245600
HP:0004322	Short stature	9469	CHST3	OMIM:143095
HP:0004322	Short stature	26229	B3GAT3	OMIM:245600
HP:0004322	Short stature	23404	EXOSC2	OMIM:617763
HP:0004322	Short stature	55331	ACER3	OMIM:617762
HP:0004322	Short stature	92935	MARS2	OMIM:616430
HP:0004322	Short stature	7043	TGFB3	OMIM:615582
HP:0004322	Short stature	22827	PUF60	OMIM:615583
HP:0004322	Short stature	22827	PUF60	ORPHA:508498
HP:0004322	Short stature	22827	PUF60	ORPHA:508488
HP:0004322	Short stature	10082	GPC6	ORPHA:93329
HP:0004322	Short stature	8074	FGF23	OMIM:193100
HP:0004322	Short stature	26235	FBXL4	OMIM:615471
HP:0004322	Short stature	6777	STAT5B	OMIM:618985
HP:0004322	Short stature	5238	PGM3	ORPHA:443811
HP:0004322	Short stature	4897	NRCAM	OMIM:619833
HP:0004322	Short stature	91147	TMEM67	OMIM:602152
HP:0004322	Short stature	6662	SOX9	ORPHA:140
HP:0004322	Short stature	23498	HAAO	OMIM:617660
HP:0004322	Short stature	9578	CDC42BPB	OMIM:619841
HP:0004322	Short stature	64412	GZF1	OMIM:617662
HP:0004322	Short stature	8942	KYNU	OMIM:617661
HP:0004322	Short stature	1841	DTYMK	OMIM:619847
HP:0004322	Short stature	5424	POLD1	OMIM:620836
HP:0004322	Short stature	10686	CLDN16	OMIM:248250
HP:0004322	Short stature	3149	HMGB3	OMIM:300915
HP:0004322	Short stature	3716	JAK1	OMIM:618999
HP:0004322	Short stature	57082	KNL1	OMIM:604321
HP:0004322	Short stature	57082	KNL1	ORPHA:2512
HP:0004322	Short stature	55636	CHD7	ORPHA:138
HP:0004322	Short stature	9723	SEMA3E	ORPHA:138
HP:0004322	Short stature	29957	SLC25A24	ORPHA:2963
HP:0004322	Short stature	29957	SLC25A24	ORPHA:2095
HP:0004322	Short stature	29957	SLC25A24	OMIM:612289
HP:0004322	Short stature	818	CAMK2G	OMIM:618522
HP:0004322	Short stature	10606	PAICS	OMIM:619859
HP:0004322	Short stature	64359	NXN	OMIM:618529
HP:0004322	Short stature	9968	MED12	ORPHA:93932
HP:0004322	Short stature	9968	MED12	OMIM:305450
HP:0004322	Short stature	9968	MED12	OMIM:301068
HP:0004322	Short stature	7994	KAT6A	ORPHA:457193
HP:0004322	Short stature	5139	PDE3A	OMIM:112410
HP:0004322	Short stature	5139	PDE3A	ORPHA:1276
HP:0004322	Short stature	10484	SEC23A	OMIM:607812
HP:0004322	Short stature	10484	SEC23A	ORPHA:50814
HP:0004322	Short stature	8550	MAPKAPK5	OMIM:619869
HP:0004322	Short stature	11193	WBP4	OMIM:620852
HP:0004322	Short stature	23007	PLCH1	ORPHA:93925
HP:0004322	Short stature	4645	MYO5B	OMIM:619868
HP:0004322	Short stature	26834	RNU4-2	OMIM:620851
HP:0004322	Short stature	81794	ADAMTS10	OMIM:277600
HP:0004322	Short stature	81794	ADAMTS10	ORPHA:3449
HP:0004322	Short stature	92482	BBIP1	ORPHA:110
HP:0004322	Short stature	11020	IFT27	ORPHA:110
HP:0004322	Short stature	582	BBS1	ORPHA:110
HP:0004322	Short stature	49855	SCAPER	ORPHA:110
HP:0004322	Short stature	51057	WDPCP	ORPHA:110
HP:0004322	Short stature	132320	SCLT1	ORPHA:110
HP:0004322	Short stature	27241	BBS9	ORPHA:110
HP:0004322	Short stature	84984	CEP19	ORPHA:110
HP:0004322	Short stature	22954	TRIM32	ORPHA:110
HP:0004322	Short stature	54903	MKS1	ORPHA:110
HP:0004322	Short stature	79738	BBS10	ORPHA:110
HP:0004322	Short stature	123016	TTC8	ORPHA:110
HP:0004322	Short stature	583	BBS2	ORPHA:110
HP:0004322	Short stature	585	BBS4	ORPHA:110
HP:0004322	Short stature	54585	LZTFL1	ORPHA:110
HP:0004322	Short stature	55212	BBS7	ORPHA:110
HP:0004322	Short stature	166379	BBS12	ORPHA:110
HP:0004322	Short stature	157657	CFAP418	ORPHA:110
HP:0004322	Short stature	84100	ARL6	ORPHA:110
HP:0004322	Short stature	129880	BBS5	ORPHA:110
HP:0004322	Short stature	80173	IFT74	ORPHA:110
HP:0004322	Short stature	402381	SOHLH1	OMIM:617690
HP:0004322	Short stature	3590	IL11RA	OMIM:614188
HP:0004322	Short stature	23126	POGZ	OMIM:616364
HP:0004322	Short stature	23126	POGZ	ORPHA:468678
HP:0004322	Short stature	55773	TBC1D23	OMIM:617695
HP:0004322	Short stature	1594	CYP27B1	ORPHA:289157
HP:0004322	Short stature	120227	CYP2R1	ORPHA:289157
HP:0004322	Short stature	8558	CDK10	OMIM:617694
HP:0004322	Short stature	3098	HK1	OMIM:618547
HP:0004322	Short stature	5590	PRKCZ	ORPHA:1606
HP:0004322	Short stature	2563	GABRD	ORPHA:1606
HP:0004322	Short stature	23013	SPEN	ORPHA:1606
HP:0004322	Short stature	8510	MMP23B	ORPHA:1606
HP:0004322	Short stature	7798	LUZP1	ORPHA:1606
HP:0004322	Short stature	6497	SKI	ORPHA:1606
HP:0004322	Short stature	10630	PDPN	ORPHA:1606
HP:0004322	Short stature	10277	UBE4B	ORPHA:1606
HP:0004322	Short stature	8514	KCNAB2	ORPHA:1606
HP:0004322	Short stature	63976	PRDM16	ORPHA:1606
HP:0004322	Short stature	54897	CASZ1	ORPHA:1606
HP:0004322	Short stature	285362	SUMF1	ORPHA:585
HP:0004322	Short stature	285362	SUMF1	OMIM:272200
HP:0004322	Short stature	472	ATM	ORPHA:100
HP:0004322	Short stature	472	ATM	OMIM:208900
HP:0004322	Short stature	79633	FAT4	ORPHA:314679
HP:0004322	Short stature	8642	DCHS1	ORPHA:314679
HP:0004322	Short stature	1758	DMP1	ORPHA:289176
HP:0004322	Short stature	57679	ALS2	OMIM:205100
HP:0004322	Short stature	84295	PHF6	ORPHA:127
HP:0004322	Short stature	84295	PHF6	OMIM:301900
HP:0004322	Short stature	29110	TBK1	OMIM:620880
HP:0004322	Short stature	6138	RPL15	ORPHA:124
HP:0004322	Short stature	6224	RPS20	ORPHA:124
HP:0004322	Short stature	6132	RPL8	ORPHA:124
HP:0004322	Short stature	6223	RPS19	ORPHA:124
HP:0004322	Short stature	6223	RPS19	OMIM:105650
HP:0004322	Short stature	6232	RPS27	ORPHA:124
HP:0004322	Short stature	6160	RPL31	ORPHA:124
HP:0004322	Short stature	6155	RPL27	ORPHA:124
HP:0004322	Short stature	6234	RPS28	ORPHA:124
HP:0004322	Short stature	6234	RPS28	OMIM:606164
HP:0004322	Short stature	6135	RPL11	ORPHA:124
HP:0004322	Short stature	6229	RPS24	ORPHA:124
HP:0004322	Short stature	6125	RPL5	ORPHA:124
HP:0004322	Short stature	6204	RPS10	ORPHA:124
HP:0004322	Short stature	2623	GATA1	ORPHA:124
HP:0004322	Short stature	6133	RPL9	ORPHA:124
HP:0004322	Short stature	11224	RPL35	ORPHA:124
HP:0004322	Short stature	6154	RPL26	ORPHA:124
HP:0004322	Short stature	6154	RPL26	OMIM:614900
HP:0004322	Short stature	6210	RPS15A	ORPHA:124
HP:0004322	Short stature	90121	TSR2	ORPHA:124
HP:0004322	Short stature	6141	RPL18	ORPHA:124
HP:0004322	Short stature	6235	RPS29	ORPHA:124
HP:0004322	Short stature	51816	ADA2	ORPHA:124
HP:0004322	Short stature	404672	GTF2H5	OMIM:616395
HP:0004322	Short stature	9742	IFT140	OMIM:266920
HP:0004322	Short stature	9742	IFT140	ORPHA:474
HP:0004322	Short stature	205327	C2orf69	OMIM:619423
HP:0004322	Short stature	26173	INTS1	OMIM:618571
HP:0004322	Short stature	9427	ECEL1	OMIM:615065
HP:0004322	Short stature	55656	INTS8	OMIM:618572
HP:0004322	Short stature	55151	TMEM38B	OMIM:615066
HP:0004322	Short stature	7201	TRHR	OMIM:618573
HP:0004322	Short stature	171546	SPTSSA	OMIM:620416
HP:0004322	Short stature	171546	SPTSSA	OMIM:620417
HP:0004322	Short stature	165918	RNF168	OMIM:611943
HP:0004322	Short stature	165918	RNF168	ORPHA:420741
HP:0004322	Short stature	9949	AMMECR1	OMIM:300990
HP:0004322	Short stature	4558	MT-TF	ORPHA:551
HP:0004322	Short stature	4558	MT-TF	ORPHA:550
HP:0004322	Short stature	4567	MT-TL1	ORPHA:551
HP:0004322	Short stature	4567	MT-TL1	ORPHA:550
HP:0004322	Short stature	4567	MT-TL1	ORPHA:480
HP:0004322	Short stature	4567	MT-TL1	ORPHA:324525
HP:0004322	Short stature	4549	MT-RNR1	ORPHA:551
HP:0004322	Short stature	4574	MT-TS1	ORPHA:551
HP:0004322	Short stature	4574	MT-TS1	ORPHA:550
HP:0004322	Short stature	4575	MT-TS2	ORPHA:551
HP:0004322	Short stature	4575	MT-TS2	ORPHA:550
HP:0004322	Short stature	4571	MT-TP	ORPHA:551
HP:0004322	Short stature	4572	MT-TQ	ORPHA:551
HP:0004322	Short stature	4572	MT-TQ	ORPHA:550
HP:0004322	Short stature	4540	MT-ND5	ORPHA:551
HP:0004322	Short stature	4540	MT-ND5	ORPHA:550
HP:0004322	Short stature	4566	MT-TK	ORPHA:551
HP:0004322	Short stature	4564	MT-TH	ORPHA:551
HP:0004322	Short stature	4564	MT-TH	ORPHA:550
HP:0004322	Short stature	4512	MT-CO1	ORPHA:550
HP:0004322	Short stature	4513	MT-CO2	ORPHA:550
HP:0004322	Short stature	4514	MT-CO3	ORPHA:550
HP:0004322	Short stature	4578	MT-TW	ORPHA:550
HP:0004322	Short stature	4541	MT-ND6	ORPHA:550
HP:0004322	Short stature	4535	MT-ND1	ORPHA:550
HP:0004322	Short stature	4538	MT-ND4	ORPHA:550
HP:0004322	Short stature	6134	RPL10	OMIM:300998
HP:0004322	Short stature	56896	DPYSL5	OMIM:619435
HP:0004322	Short stature	56896	DPYSL5	ORPHA:7
HP:0004322	Short stature	1859	DYRK1A	ORPHA:268261
HP:0004322	Short stature	1859	DYRK1A	OMIM:614104
HP:0004322	Short stature	6418	SET	OMIM:618106
HP:0004322	Short stature	7707	ZNF148	OMIM:617260
HP:0004322	Short stature	3778	KCNMA1	OMIM:618596
HP:0004322	Short stature	23729	SHPK	ORPHA:440713
HP:0004322	Short stature	4952	OCRL	ORPHA:534
HP:0004322	Short stature	4952	OCRL	OMIM:300555
HP:0004322	Short stature	4952	OCRL	OMIM:309000
HP:0004322	Short stature	56975	FAM20C	OMIM:259775
HP:0004322	Short stature	79158	GNPTAB	ORPHA:576
HP:0004322	Short stature	79158	GNPTAB	OMIM:252600
HP:0004322	Short stature	79158	GNPTAB	ORPHA:423461
HP:0004322	Short stature	4784	NFIX	OMIM:602535
HP:0004322	Short stature	55250	ELP2	OMIM:617270
HP:0004322	Short stature	3039	HBA1	ORPHA:98791
HP:0004322	Short stature	3040	HBA2	ORPHA:98791
HP:0004322	Short stature	2735	GLI1	OMIM:618123
HP:0004322	Short stature	8888	MCM3AP	OMIM:618124
HP:0004322	Short stature	51132	RLIM	OMIM:300978
HP:0004322	Short stature	4052	LTBP1	OMIM:619451
HP:0004322	Short stature	9675	TTI1	OMIM:620445
HP:0004322	Short stature	1312	COMT	ORPHA:567
HP:0004322	Short stature	221037	JMJD1C	ORPHA:567
HP:0004322	Short stature	2812	GP1BB	ORPHA:567
HP:0004322	Short stature	6239	RREB1	ORPHA:567
HP:0004322	Short stature	6899	TBX1	ORPHA:567
HP:0004322	Short stature	6899	TBX1	OMIM:192430
HP:0004322	Short stature	6899	TBX1	OMIM:188400
HP:0004322	Short stature	7290	HIRA	ORPHA:567
HP:0004322	Short stature	9632	SEC24C	ORPHA:567
HP:0004322	Short stature	7353	UFD1	ORPHA:567
HP:0004322	Short stature	421	ARVCF	ORPHA:567
HP:0004322	Short stature	3858	KRT10	OMIM:609165
HP:0004322	Short stature	54880	BCOR	ORPHA:568
HP:0004322	Short stature	54880	BCOR	OMIM:300166
HP:0004322	Short stature	6557	SLC12A1	OMIM:601678
HP:0004322	Short stature	633	BGN	OMIM:300989
HP:0004322	Short stature	146206	CARMIL2	OMIM:618131
HP:0004322	Short stature	3188	HNRNPH2	OMIM:300986
HP:0004322	Short stature	1974	EIF4A2	OMIM:620455
HP:0004322	Short stature	4548	MTR	OMIM:250940
HP:0004322	Short stature	6874	TAF4	OMIM:620450
HP:0004322	Short stature	4613	MYCN	ORPHA:391641
HP:0004322	Short stature	57187	THOC2	OMIM:300957
HP:0004322	Short stature	57187	THOC2	ORPHA:457240
HP:0004322	Short stature	10526	IPO8	OMIM:619472
HP:0004322	Short stature	2892	GRIA3	ORPHA:364028
HP:0004322	Short stature	2892	GRIA3	OMIM:300699
HP:0004322	Short stature	7737	RNF113A	OMIM:300953
HP:0004322	Short stature	4361	MRE11	ORPHA:251347
HP:0004322	Short stature	64327	LMBR1	ORPHA:988
HP:0004322	Short stature	9060	PAPSS2	OMIM:612847
HP:0004322	Short stature	673	BRAF	ORPHA:500
HP:0004322	Short stature	673	BRAF	OMIM:613707
HP:0004322	Short stature	673	BRAF	OMIM:613706
HP:0004322	Short stature	673	BRAF	OMIM:115150
HP:0004322	Short stature	673	BRAF	ORPHA:1340
HP:0004322	Short stature	673	BRAF	OMIM:163950
HP:0004322	Short stature	2317	FLNB	ORPHA:503
HP:0004322	Short stature	2317	FLNB	OMIM:150250
HP:0004322	Short stature	25839	COG4	OMIM:618150
HP:0004322	Short stature	25839	COG4	ORPHA:85172
HP:0004322	Short stature	10682	EBP	OMIM:300960
HP:0004322	Short stature	10682	EBP	ORPHA:401973
HP:0004322	Short stature	10682	EBP	ORPHA:35173
HP:0004322	Short stature	8567	MADD	OMIM:619004
HP:0004322	Short stature	2760	GM2A	ORPHA:309246
HP:0004322	Short stature	60676	PAPPA2	OMIM:619489
HP:0004322	Short stature	8239	USP9X	OMIM:300968
HP:0004322	Short stature	8239	USP9X	ORPHA:480880
HP:0004322	Short stature	2628	GATM	OMIM:134600
HP:0004322	Short stature	2998	GYS2	ORPHA:2089
HP:0004322	Short stature	407975	MIR17HG	ORPHA:391646
HP:0004322	Short stature	55599	RNPC3	OMIM:618160
HP:0004322	Short stature	5317	PKP1	ORPHA:158668
HP:0004322	Short stature	84231	TRAF7	OMIM:618164
HP:0004322	Short stature	7157	TP53	OMIM:618165
HP:0004322	Short stature	2193	FARSA	OMIM:619013
HP:0004322	Short stature	203190	LGI3	OMIM:620007
HP:0004322	Short stature	9897	WASHC5	ORPHA:7
HP:0004322	Short stature	28952	CCDC22	ORPHA:7
HP:0004322	Short stature	57020	VPS35L	ORPHA:7
HP:0004322	Short stature	64432	MRPS25	OMIM:619025
HP:0004322	Short stature	1496	CTNNA2	OMIM:618174
HP:0004322	Short stature	84168	ANTXR1	ORPHA:2067
HP:0004322	Short stature	79693	YRDC	ORPHA:2065
HP:0004322	Short stature	51002	TPRKB	ORPHA:2065
HP:0004322	Short stature	84942	WDR73	ORPHA:2065
HP:0004322	Short stature	84942	WDR73	OMIM:251300
HP:0004322	Short stature	55746	NUP133	ORPHA:2065
HP:0004322	Short stature	84520	GON7	ORPHA:2065
HP:0004322	Short stature	8270	LAGE3	ORPHA:2065
HP:0004322	Short stature	8270	LAGE3	OMIM:301006
HP:0004322	Short stature	26276	VPS33B	OMIM:620010
HP:0004322	Short stature	9898	UBAP2L	OMIM:620494
HP:0004322	Short stature	7355	SLC35A2	ORPHA:356961
HP:0004322	Short stature	57539	WDR35	OMIM:613610
HP:0004322	Short stature	57539	WDR35	OMIM:614091
HP:0004322	Short stature	123263	MTFMT	OMIM:614947
HP:0004322	Short stature	9839	ZEB2	OMIM:235730
HP:0004322	Short stature	9839	ZEB2	ORPHA:261552
HP:0004322	Short stature	9839	ZEB2	ORPHA:261537
HP:0004322	Short stature	2542	SLC37A4	OMIM:232220
HP:0004322	Short stature	2542	SLC37A4	ORPHA:79259
HP:0004322	Short stature	51506	UFC1	OMIM:618076
HP:0004322	Short stature	80055	PGAP1	OMIM:615802
HP:0004322	Short stature	10225	CD96	OMIM:211750
HP:0004322	Short stature	10225	CD96	ORPHA:1308
HP:0004322	Short stature	3766	KCNJ10	OMIM:612780
HP:0004322	Short stature	80204	FBXO11	OMIM:618089
HP:0004322	Short stature	50814	NSDHL	OMIM:308050
HP:0004322	Short stature	2688	GH1	OMIM:612781
HP:0004322	Short stature	2538	G6PC1	OMIM:232200
HP:0004322	Short stature	3953	LEPR	OMIM:614963
HP:0004322	Short stature	23325	WASHC4	OMIM:615817
HP:0004322	Short stature	6473	SHOX	OMIM:300582
HP:0004322	Short stature	6473	SHOX	ORPHA:314795
HP:0004322	Short stature	57531	HACE1	ORPHA:464282
HP:0004322	Short stature	57531	HACE1	OMIM:616756
HP:0004322	Short stature	9896	FIG4	ORPHA:3472
HP:0004322	Short stature	55697	VAC14	ORPHA:3472
HP:0004322	Short stature	7156	TOP3A	OMIM:618097
HP:0004322	Short stature	6885	MAP3K7	OMIM:157800
HP:0004322	Short stature	7020	TFAP2A	ORPHA:1297
HP:0004322	Short stature	3425	IDUA	OMIM:607014
HP:0004322	Short stature	3425	IDUA	OMIM:607015
HP:0004322	Short stature	3425	IDUA	ORPHA:93473
HP:0004322	Short stature	3425	IDUA	ORPHA:93476
HP:0004322	Short stature	3192	HNRNPU	ORPHA:238769
HP:0004322	Short stature	2903	GRIN2A	OMIM:245570
HP:0004322	Short stature	2903	GRIN2A	ORPHA:289266
HP:0004322	Short stature	5063	PAK3	OMIM:300558
HP:0004322	Short stature	10056	FARSB	OMIM:613658
HP:0004322	Short stature	3748	KCNC3	ORPHA:98768
HP:0004322	Short stature	54499	TMCO1	OMIM:213980
HP:0004322	Short stature	54499	TMCO1	ORPHA:1394
HP:0004322	Short stature	10436	EMG1	ORPHA:1270
HP:0004322	Short stature	81887	LAS1L	ORPHA:3459
HP:0004322	Short stature	3708	ITPR1	OMIM:117360
HP:0004322	Short stature	5422	POLA1	ORPHA:163976
HP:0004322	Short stature	5422	POLA1	OMIM:301030
HP:0004322	Short stature	10661	KLF1	OMIM:613673
HP:0004322	Short stature	57393	CLTRN	ORPHA:2116
HP:0004322	Short stature	170691	ADAMTS17	ORPHA:3449
HP:0004322	Short stature	170691	ADAMTS17	OMIM:613195
HP:0004322	Short stature	55275	VPS53	OMIM:615851
HP:0004322	Short stature	64116	SLC39A8	ORPHA:468699
HP:0004322	Short stature	64116	SLC39A8	OMIM:616721
HP:0004322	Short stature	28962	OSTM1	OMIM:259720
HP:0004322	Short stature	91252	SLC39A13	OMIM:612350
HP:0004322	Short stature	355	FAS	ORPHA:3437
HP:0004322	Short stature	26191	PTPN22	ORPHA:3437
HP:0004322	Short stature	6664	SOX11	OMIM:615866
HP:0004322	Short stature	91949	COG7	OMIM:608779
HP:0004322	Short stature	2245	FGD1	OMIM:305400
HP:0004322	Short stature	2245	FGD1	ORPHA:915
HP:0004322	Short stature	124997	WDR81	OMIM:610185
HP:0004322	Short stature	124997	WDR81	ORPHA:1766
HP:0004322	Short stature	23028	KDM1A	OMIM:616728
HP:0004322	Short stature	55593	OTUD5	OMIM:301056
HP:0004322	Short stature	4854	NOTCH3	OMIM:130720
HP:0004322	Short stature	10982	MAPRE2	OMIM:616734
HP:0004322	Short stature	10982	MAPRE2	ORPHA:2505
HP:0004322	Short stature	1911	PHC1	OMIM:615414
HP:0004322	Short stature	1911	PHC1	ORPHA:2512
HP:0004322	Short stature	2917	GRM7	OMIM:618922
HP:0004322	Short stature	176	ACAN	OMIM:165800
HP:0004322	Short stature	60	ACTB	ORPHA:79107
HP:0004322	Short stature	60	ACTB	OMIM:243310
HP:0004322	Short stature	8471	IRS4	OMIM:301035
HP:0004322	Short stature	25	ABL1	OMIM:617602
HP:0004322	Short stature	79415	CYBC1	OMIM:618935
HP:0004322	Short stature	29980	DONSON	OMIM:617604
HP:0004322	Short stature	9343	EFTUD2	ORPHA:79113
HP:0004322	Short stature	9343	EFTUD2	OMIM:610536
HP:0004322	Short stature	23476	BRD4	ORPHA:199
HP:0004322	Short stature	6878	TAF6	ORPHA:199
HP:0004322	Short stature	6878	TAF6	OMIM:617126
HP:0004322	Short stature	157680	VPS13B	ORPHA:193
HP:0004322	Short stature	157680	VPS13B	OMIM:216550
HP:0004322	Short stature	71	ACTG1	OMIM:614583
HP:0004322	Short stature	2517	FUCA1	OMIM:230000
HP:0004322	Short stature	9894	TELO2	ORPHA:488642
HP:0004322	Short stature	259266	ASPM	OMIM:608716
HP:0004322	Short stature	259266	ASPM	ORPHA:2512
HP:0004322	Short stature	23247	KATNIP	OMIM:616784
HP:0004322	Short stature	1804	DPP6	ORPHA:2514
HP:0004322	Short stature	1804	DPP6	OMIM:616311
HP:0004322	Short stature	8192	CLPP	OMIM:614129
HP:0004322	Short stature	85378	TUBGCP6	ORPHA:2518
HP:0004322	Short stature	85378	TUBGCP6	OMIM:251270
HP:0004322	Short stature	27229	TUBGCP4	ORPHA:2518
HP:0004322	Short stature	1146	CHRNG	ORPHA:2990
HP:0004322	Short stature	1146	CHRNG	OMIM:265000
HP:0004322	Short stature	9939	RBM8A	OMIM:274000
HP:0004322	Short stature	22931	RAB18	ORPHA:2510
HP:0004322	Short stature	5286	PIK3C2A	ORPHA:557003
HP:0004322	Short stature	5286	PIK3C2A	OMIM:618440
HP:0004322	Short stature	9276	COPB2	ORPHA:2512
HP:0004322	Short stature	11113	CIT	ORPHA:2512
HP:0004322	Short stature	11113	CIT	OMIM:617090
HP:0004322	Short stature	9928	KIF14	ORPHA:2512
HP:0004322	Short stature	9928	KIF14	OMIM:617914
HP:0004322	Short stature	284403	WDR62	ORPHA:2512
HP:0004322	Short stature	55262	TRAPPC14	ORPHA:2512
HP:0004322	Short stature	163786	SASS6	ORPHA:2512
HP:0004322	Short stature	29920	PYCR2	ORPHA:2512
HP:0004322	Short stature	84879	MFSD2A	ORPHA:2512
HP:0004322	Short stature	4176	MCM7	ORPHA:2512
HP:0004322	Short stature	29081	METTL5	ORPHA:2512
HP:0004322	Short stature	79023	NUP37	ORPHA:2512
HP:0004322	Short stature	23310	NCAPD3	ORPHA:2512
HP:0004322	Short stature	23310	NCAPD3	OMIM:617984
HP:0004322	Short stature	6301	SARS1	ORPHA:2512
HP:0004322	Short stature	23141	ANKLE2	ORPHA:2512
HP:0004322	Short stature	23141	ANKLE2	OMIM:616681
HP:0004322	Short stature	7453	WARS1	ORPHA:2512
HP:0004322	Short stature	9662	CEP135	ORPHA:2512
HP:0004322	Short stature	1021	CDK6	ORPHA:2512
HP:0004322	Short stature	10892	MALT1	OMIM:615468
HP:0004322	Short stature	203068	TUBB	ORPHA:2505
HP:0004322	Short stature	10749	KIF1C	ORPHA:397946
HP:0004322	Short stature	104	ADARB1	OMIM:618862
HP:0004322	Short stature	83932	SPRTN	OMIM:616200
HP:0004322	Short stature	2972	BRF1	OMIM:616202
HP:0004322	Short stature	60684	TRAPPC11	OMIM:615356
HP:0004322	Short stature	60684	TRAPPC11	ORPHA:869
HP:0004322	Short stature	10973	ASCC3	OMIM:620700
HP:0004322	Short stature	3703	STT3A	OMIM:619714
HP:0004322	Short stature	64220	STRA6	OMIM:601186
HP:0004322	Short stature	347733	TUBB2B	ORPHA:1766
HP:0004322	Short stature	51761	ATP8A2	ORPHA:1766
HP:0004322	Short stature	767	CA8	ORPHA:1766
HP:0004322	Short stature	3021	H3-3B	OMIM:619721
HP:0004322	Short stature	1644	DDC	ORPHA:35708
HP:0004322	Short stature	55790	CSGALNACT1	OMIM:618870
HP:0004322	Short stature	79639	TMEM53	OMIM:619727
HP:0004322	Short stature	84572	GNPTG	OMIM:252605
HP:0004322	Short stature	716	C1S	ORPHA:75392
HP:0004322	Short stature	715	C1R	ORPHA:75392
HP:0004322	Short stature	2590	GALNT2	OMIM:618885
HP:0004322	Short stature	9698	PUM1	OMIM:620719
HP:0004322	Short stature	9698	PUM1	OMIM:617931
HP:0004322	Short stature	4853	NOTCH2	OMIM:102500
HP:0004322	Short stature	4853	NOTCH2	ORPHA:955
HP:0004322	Short stature	56172	ANKH	OMIM:123000
HP:0004322	Short stature	9581	PREPL	OMIM:616224
HP:0004322	Short stature	90993	CREB3L1	OMIM:616229
HP:0004322	Short stature	23761	PISD	OMIM:618889
HP:0004322	Short stature	5442	POLRMT	OMIM:619743
HP:0004322	Short stature	4297	KMT2A	ORPHA:319182
HP:0004322	Short stature	4297	KMT2A	OMIM:605130
HP:0004322	Short stature	833	CARS1	OMIM:618891
HP:0004322	Short stature	55012	PPP2R3C	OMIM:618419
HP:0004322	Short stature	1789	DNMT3B	OMIM:242860
HP:0004322	Short stature	1789	DNMT3B	ORPHA:2268
HP:0004322	Short stature	153241	CEP120	ORPHA:474
HP:0004322	Short stature	57560	IFT80	ORPHA:474
HP:0004322	Short stature	89891	DYNC2I2	ORPHA:474
HP:0004322	Short stature	1947	EFNB1	OMIM:304110
HP:0004322	Short stature	339983	NAT8L	OMIM:614063
HP:0004322	Short stature	54539	NDUFB11	OMIM:309801
HP:0004322	Short stature	3052	HCCS	OMIM:309801
HP:0004322	Short stature	3572	IL6ST	OMIM:619750
HP:0004322	Short stature	8363	H4C11	OMIM:619759
HP:0004322	Short stature	145258	GSC	OMIM:602471
HP:0004322	Short stature	54928	BPNT2	OMIM:614078
HP:0004322	Short stature	51098	IFT52	OMIM:617102
HP:0004322	Short stature	53335	BCL11A	OMIM:617101
HP:0004322	Short stature	54487	DGCR8	OMIM:192430
HP:0004322	Short stature	8214	DGCR6	OMIM:192430
HP:0004322	Short stature	8220	ESS2	OMIM:192430
HP:0004322	Short stature	9993	DGCR2	OMIM:192430
HP:0004322	Short stature	51651	PTRH2	OMIM:616263
HP:0004322	Short stature	23162	MAPK8IP3	OMIM:618443
HP:0004322	Short stature	249	ALPL	OMIM:241510
HP:0004322	Short stature	85459	CEP295	OMIM:620767
HP:0004322	Short stature	387733	IFITM5	OMIM:610967
HP:0004322	Short stature	26100	WIPI2	OMIM:618453
HP:0004322	Short stature	8295	TRRAP	OMIM:618454
HP:0004322	Short stature	112752	IFT43	OMIM:614099
HP:0004322	Short stature	5256	PHKA2	ORPHA:264580
HP:0004322	Short stature	5261	PHKG2	ORPHA:264580
HP:0004322	Short stature	27145	FILIP1	OMIM:620775
HP:0004322	Short stature	78987	CRELD1	OMIM:620771
HP:0004322	Short stature	2902	GRIN1	ORPHA:208447
HP:0004322	Short stature	6023	RMRP	OMIM:250460
HP:0004322	Short stature	157570	ESCO2	OMIM:216100
HP:0004322	Short stature	6492	SIM1	ORPHA:369873
HP:0004322	Short stature	79879	CCDC134	OMIM:619795
HP:0004322	Short stature	54892	NCAPG2	OMIM:618460
HP:0004322	Short stature	79903	NAA60	OMIM:620786
HP:0004322	Short stature	6650	CAPN15	OMIM:619318
HP:0004322	Short stature	8675	STX16	ORPHA:94089
HP:0004322	Short stature	5631	PRPS1	ORPHA:423479
HP:0004322	Short stature	5631	PRPS1	OMIM:300661
HP:0004322	Short stature	6548	SLC9A1	OMIM:616291
HP:0004322	Short stature	221496	LEMD2	OMIM:619322
HP:0004322	Short stature	29998	BICRA	OMIM:619325
HP:0004322	Short stature	6651	SON	OMIM:617140
HP:0004322	Short stature	23586	RIGI	OMIM:616298
HP:0004322	Short stature	8882	ZPR1	OMIM:619321
HP:0004322	Short stature	55503	TRPV6	ORPHA:417
HP:0004322	Short stature	846	CASR	ORPHA:417
HP:0004322	Short stature	846	CASR	OMIM:601198
HP:0004322	Short stature	1725	DHPS	OMIM:618480
HP:0004322	Short stature	2530	FUT8	OMIM:618005
HP:0004322	Short stature	54496	PRMT7	OMIM:617157
HP:0004322	Short stature	1108	CHD4	OMIM:617159
HP:0004322	Short stature	23389	MED13L	ORPHA:369891
HP:0004322	Short stature	1781	DYNC1I2	OMIM:618492
HP:0004322	Short stature	8091	HMGA2	ORPHA:94063
HP:0004322	Short stature	23592	LEMD3	ORPHA:94063
HP:0004322	Short stature	9509	ADAMTS2	OMIM:225410
HP:0004322	Short stature	372	ARCN1	OMIM:617164
HP:0004322	Short stature	54681	P4HTM	OMIM:618493
HP:0004322	Short stature	79644	SRD5A3	OMIM:612713
HP:0004322	Short stature	9791	PTDSS1	OMIM:151050
HP:0004322	Short stature	5977	DPF2	OMIM:618027
HP:0004322	Short stature	29926	GMPPA	ORPHA:869
HP:0004322	Short stature	2077	ERF	OMIM:617180
HP:0004322	Short stature	51715	RAB23	OMIM:201000
HP:0004322	Short stature	226	ALDOA	OMIM:611881
HP:0004322	Short stature	6299	SALL1	ORPHA:857
HP:0004322	Short stature	51339	DACT1	ORPHA:857
HP:0004322	Short stature	5080	PAX6	ORPHA:893
HP:0004322	Short stature	7490	WT1	ORPHA:893
HP:0004322	Short stature	627	BDNF	ORPHA:893
HP:0004322	Short stature	1650	DDOST	ORPHA:300536
HP:0004322	Short stature	7390	UROS	OMIM:263700
HP:0004322	Short stature	142680	SLC34A3	ORPHA:157215
HP:0004322	Short stature	2332	FMR1	ORPHA:261483
HP:0004322	Short stature	23154	NCDN	OMIM:619373
HP:0004322	Short stature	5236	PGM1	OMIM:614921
HP:0004322	Short stature	11011	TLK2	OMIM:618050
HP:0004322	Short stature	5965	RECQL	OMIM:620370
HP:0004322	Short stature	23040	MYT1L	ORPHA:647799
HP:0004322	Short stature	161742	SPRED1	ORPHA:137605
HP:0004322	Short stature	90952	ESAM	OMIM:620371
HP:0004322	Short stature	5144	PDE4D	ORPHA:950
HP:0004322	Short stature	7421	VDR	ORPHA:93160
HP:0004322	Short stature	9131	AIFM1	OMIM:300232
HP:0004322	Short stature	347734	SLC35B2	OMIM:620269
HP:0004322	Short stature	345895	RSPH4A	OMIM:612649
HP:0004322	Short stature	8443	GNPAT	OMIM:222765
HP:0004322	Short stature	221421	RSPH9	OMIM:612650
HP:0004322	Short stature	25914	RTTN	OMIM:614833
HP:0004322	Short stature	2911	GRM1	OMIM:614831
HP:0004322	Short stature	64324	NSD1	ORPHA:228415
HP:0004322	Short stature	6926	TBX3	ORPHA:3138
HP:0004322	Short stature	3899	AFF3	OMIM:619297
HP:0004322	Short stature	10157	AASS	ORPHA:3124
HP:0004322	Short stature	10157	AASS	ORPHA:2203
HP:0004322	Short stature	5095	PCCA	OMIM:606054
HP:0004322	Short stature	5096	PCCB	OMIM:606054
HP:0004322	Short stature	29128	UHRF1	ORPHA:2268
HP:0004322	Short stature	3070	HELLS	ORPHA:2268
HP:0004322	Short stature	83879	CDCA7	ORPHA:2268
HP:0004322	Short stature	9841	ZBTB24	ORPHA:2268
HP:0004322	Short stature	649	BMP1	OMIM:614856
HP:0004322	Short stature	2535	FZD2	ORPHA:3107
HP:0004322	Short stature	6804	STX1A	ORPHA:904
HP:0004322	Short stature	7461	CLIP2	ORPHA:904
HP:0004322	Short stature	84277	DNAJC30	ORPHA:904
HP:0004322	Short stature	8468	FKBP6	ORPHA:904
HP:0004322	Short stature	5982	RFC2	ORPHA:904
HP:0004322	Short stature	2969	GTF2I	ORPHA:904
HP:0004322	Short stature	3984	LIMK1	ORPHA:904
HP:0004322	Short stature	9569	GTF2IRD1	ORPHA:904
HP:0004322	Short stature	155382	VPS37D	ORPHA:904
HP:0004322	Short stature	155368	METTL27	ORPHA:904
HP:0004322	Short stature	114049	BUD23	ORPHA:904
HP:0004322	Short stature	7458	EIF4H	ORPHA:904
HP:0004322	Short stature	84163	GTF2IRD2	ORPHA:904
HP:0004322	Short stature	26608	TBL2	ORPHA:904
HP:0004322	Short stature	653361	NCF1	ORPHA:904
HP:0004322	Short stature	135886	TMEM270	ORPHA:904
HP:0004322	Short stature	9031	BAZ1B	ORPHA:904
HP:0004322	Short stature	6329	SCN4A	ORPHA:99735
HP:0004322	Short stature	6628	SNRPB	ORPHA:1393
HP:0004322	Short stature	84634	KISS1R	OMIM:176400
HP:0004322	Short stature	9493	KIF23	ORPHA:98870
HP:0004322	Short stature	29127	RACGAP1	ORPHA:98870
HP:0004322	Short stature	23483	TGDS	ORPHA:1388
HP:0004322	Short stature	51199	NIN	ORPHA:319675
HP:0004322	Short stature	4313	MMP2	OMIM:259600
HP:0004322	Short stature	55081	IFT57	OMIM:617927
HP:0004322	Short stature	27152	INTU	OMIM:617926
HP:0004322	Short stature	7507	XPA	ORPHA:910
HP:0004322	Short stature	7508	XPC	ORPHA:910
HP:0004322	Short stature	1643	DDB2	ORPHA:910
HP:0004322	Short stature	54808	DYM	OMIM:607326
HP:0004322	Short stature	4173	MCM4	OMIM:609981
HP:0004322	Short stature	7849	PAX8	ORPHA:95720
HP:0004322	Short stature	7849	PAX8	ORPHA:95713
HP:0004322	Short stature	7849	PAX8	ORPHA:95712
HP:0004322	Short stature	7253	TSHR	ORPHA:95720
HP:0004322	Short stature	7253	TSHR	ORPHA:95713
HP:0004322	Short stature	5172	SLC26A4	ORPHA:95720
HP:0004322	Short stature	5172	SLC26A4	ORPHA:95713
HP:0004322	Short stature	389827	MYMK	ORPHA:1358
HP:0004322	Short stature	101929726	MYMX	ORPHA:1358
HP:0004322	Short stature	8671	SLC4A4	OMIM:604278
HP:0004322	Short stature	1482	NKX2-5	ORPHA:95713
HP:0004322	Short stature	1482	NKX2-5	ORPHA:95712
HP:0004322	Short stature	2304	FOXE1	ORPHA:95713
HP:0004322	Short stature	54974	THG1L	OMIM:618800
HP:0004322	Short stature	1292	COL6A2	OMIM:255600
HP:0004322	Short stature	9056	SLC7A7	OMIM:222700
HP:0004322	Short stature	175	AGA	OMIM:208400
HP:0004322	Short stature	2239	GPC4	ORPHA:2662
HP:0004322	Short stature	116442	RAB39B	OMIM:300271
HP:0004322	Short stature	7874	USP7	ORPHA:500055
HP:0004322	Short stature	55325	UFSP2	OMIM:617974
HP:0004322	Short stature	8087	FXR1	OMIM:618822
HP:0004322	Short stature	5205	ATP8B1	OMIM:211600
HP:0004322	Short stature	285175	UNC80	ORPHA:371364
HP:0004322	Short stature	9918	NCAPD2	OMIM:617983
HP:0004322	Short stature	54870	QRICH1	OMIM:617982
HP:0004322	Short stature	3295	HSD17B4	OMIM:233400
HP:0004322	Short stature	2819	GPD1	OMIM:614480
HP:0004322	Short stature	51780	KDM3B	OMIM:618846
HP:0004322	Short stature	8815	BANF1	OMIM:614008
HP:0004322	Short stature	10312	TCIRG1	ORPHA:1782
HP:0004322	Short stature	9203	ZMYM3	OMIM:301111
HP:0004322	Short stature	9130	FAM50A	OMIM:300261
HP:0004322	Short stature	5307	PITX1	OMIM:119800
HP:0004322	Short stature	55651	NHP2	ORPHA:1775
HP:0004322	Short stature	55135	WRAP53	ORPHA:1775
HP:0004322	Short stature	4869	NPM1	ORPHA:1775
HP:0004322	Short stature	7012	TERC	ORPHA:1775
HP:0004322	Short stature	55505	NOP10	ORPHA:1775
HP:0004322	Short stature	6736	SRY	ORPHA:1772
HP:0004322	Short stature	126792	B3GALT6	OMIM:615349
HP:0004322	Short stature	85465	SELENOI	ORPHA:506353
HP:0004322	Short stature	9653	HS2ST1	OMIM:619194
HP:0004322	Short stature	4921	DDR2	OMIM:271665
HP:0004322	Short stature	3636	INPPL1	ORPHA:3144
HP:0004322	Short stature	3636	INPPL1	OMIM:258480
HP:0004322	Short stature	23169	SLC35D1	ORPHA:3144
HP:0004322	Short stature	23169	SLC35D1	OMIM:269250
HP:0004322	Short stature	4796	TONSL	ORPHA:93357
HP:0004322	Short stature	4796	TONSL	OMIM:271510
HP:0004322	Short stature	8540	AGPS	OMIM:600121
HP:0004322	Short stature	124583	CANT1	OMIM:251450
HP:0004322	Short stature	124583	CANT1	ORPHA:1425
HP:0004322	Short stature	64175	P3H1	OMIM:610915
HP:0004322	Short stature	3930	LBR	OMIM:215140
HP:0004322	Short stature	3930	LBR	OMIM:618019
HP:0004322	Short stature	132884	EVC2	OMIM:225500
HP:0004322	Short stature	2121	EVC	OMIM:225500
HP:0004322	Short stature	11014	KDELR2	OMIM:619131
HP:0004322	Short stature	23184	MESD	OMIM:618644
HP:0004322	Short stature	5479	PPIB	OMIM:259440
HP:0004322	Short stature	406932	MIR140	OMIM:618618
HP:0004322	Short stature	10586	MAB21L2	OMIM:615877
HP:0004322	Short stature	55764	IFT122	ORPHA:1515
HP:0004322	Short stature	55764	IFT122	OMIM:218330
HP:0004322	Short stature	79087	ALG12	OMIM:607143
HP:0004322	Short stature	2475	MTOR	OMIM:616638
HP:0004322	Short stature	91461	PKDCC	OMIM:618821
HP:0004322	Short stature	79796	ALG9	ORPHA:79328
HP:0004322	Short stature	23387	SIK3	OMIM:618162
HP:0004322	Short stature	81570	CLPB	OMIM:616271
HP:0004322	Short stature	25886	POC1A	OMIM:614813
HP:0004322	Short stature	5566	PRKACA	ORPHA:289
HP:0004322	Short stature	5567	PRKACB	ORPHA:289
HP:0008872	Feeding difficulties in infancy	4728	NDUFS8	OMIM:618222
HP:0008872	Feeding difficulties in infancy	57128	LYRM4	OMIM:615595
HP:0008872	Feeding difficulties in infancy	51126	NAA20	OMIM:619717
HP:0008872	Feeding difficulties in infancy	1144	CHRND	OMIM:616323
HP:0008872	Feeding difficulties in infancy	1280	COL2A1	ORPHA:93316
HP:0008872	Feeding difficulties in infancy	2653	GCSH	OMIM:620423
HP:0008872	Feeding difficulties in infancy	1134	CHRNA1	OMIM:608930
HP:0008872	Feeding difficulties in infancy	5009	OTC	ORPHA:664
HP:0008872	Feeding difficulties in infancy	60482	SLC5A7	OMIM:617143
HP:0008872	Feeding difficulties in infancy	60482	SLC5A7	ORPHA:98914
HP:0008872	Feeding difficulties in infancy	64801	ARV1	OMIM:617020
HP:0008872	Feeding difficulties in infancy	6576	SLC25A1	OMIM:618197
HP:0008872	Feeding difficulties in infancy	6576	SLC25A1	ORPHA:98914
HP:0008872	Feeding difficulties in infancy	6492	SIM1	ORPHA:171829
HP:0008872	Feeding difficulties in infancy	51111	KMT5B	OMIM:617788
HP:0008872	Feeding difficulties in infancy	54931	TRMT10C	OMIM:616974
HP:0008872	Feeding difficulties in infancy	10157	AASS	ORPHA:2203
HP:0008872	Feeding difficulties in infancy	318	NUDT2	OMIM:619844
HP:0008872	Feeding difficulties in infancy	443	ASPA	ORPHA:314911
HP:0008872	Feeding difficulties in infancy	3417	IDH1	ORPHA:99646
HP:0008872	Feeding difficulties in infancy	6601	SMARCC2	OMIM:618362
HP:0008872	Feeding difficulties in infancy	535	ATP6V0A1	OMIM:619970
HP:0008872	Feeding difficulties in infancy	1272	CNTN1	OMIM:612540
HP:0008872	Feeding difficulties in infancy	4358	MPV17	OMIM:256810
HP:0008872	Feeding difficulties in infancy	80746	TSEN2	OMIM:612389
HP:0008872	Feeding difficulties in infancy	80746	TSEN2	ORPHA:2524
HP:0008872	Feeding difficulties in infancy	8289	ARID1A	OMIM:614607
HP:0008872	Feeding difficulties in infancy	6598	SMARCB1	OMIM:614608
HP:0008872	Feeding difficulties in infancy	91647	ATPAF2	OMIM:604273
HP:0008872	Feeding difficulties in infancy	79087	ALG12	OMIM:607143
HP:0008872	Feeding difficulties in infancy	4556	MT-TE	ORPHA:254864
HP:0008872	Feeding difficulties in infancy	25930	PTPN23	OMIM:618890
HP:0008872	Feeding difficulties in infancy	55065	SLC52A1	OMIM:615026
HP:0008872	Feeding difficulties in infancy	28514	DLL1	ORPHA:93926
HP:0008872	Feeding difficulties in infancy	28514	DLL1	ORPHA:93924
HP:0008872	Feeding difficulties in infancy	28514	DLL1	ORPHA:93925
HP:0008872	Feeding difficulties in infancy	28514	DLL1	ORPHA:220386
HP:0008872	Feeding difficulties in infancy	2253	FGF8	ORPHA:93926
HP:0008872	Feeding difficulties in infancy	2253	FGF8	ORPHA:93924
HP:0008872	Feeding difficulties in infancy	2253	FGF8	ORPHA:93925
HP:0008872	Feeding difficulties in infancy	2253	FGF8	ORPHA:220386
HP:0008872	Feeding difficulties in infancy	6496	SIX3	ORPHA:93926
HP:0008872	Feeding difficulties in infancy	6496	SIX3	ORPHA:93924
HP:0008872	Feeding difficulties in infancy	6496	SIX3	ORPHA:93925
HP:0008872	Feeding difficulties in infancy	6496	SIX3	ORPHA:220386
HP:0008872	Feeding difficulties in infancy	7050	TGIF1	ORPHA:93926
HP:0008872	Feeding difficulties in infancy	7050	TGIF1	ORPHA:93924
HP:0008872	Feeding difficulties in infancy	7050	TGIF1	ORPHA:93925
HP:0008872	Feeding difficulties in infancy	7050	TGIF1	ORPHA:220386
HP:0008872	Feeding difficulties in infancy	4838	NODAL	ORPHA:93926
HP:0008872	Feeding difficulties in infancy	4838	NODAL	ORPHA:93924
HP:0008872	Feeding difficulties in infancy	4838	NODAL	ORPHA:93925
HP:0008872	Feeding difficulties in infancy	4838	NODAL	ORPHA:220386
HP:0008872	Feeding difficulties in infancy	6469	SHH	ORPHA:93926
HP:0008872	Feeding difficulties in infancy	6469	SHH	ORPHA:93924
HP:0008872	Feeding difficulties in infancy	6469	SHH	ORPHA:93925
HP:0008872	Feeding difficulties in infancy	6469	SHH	ORPHA:220386
HP:0008872	Feeding difficulties in infancy	7546	ZIC2	ORPHA:93926
HP:0008872	Feeding difficulties in infancy	7546	ZIC2	ORPHA:93924
HP:0008872	Feeding difficulties in infancy	7546	ZIC2	ORPHA:93925
HP:0008872	Feeding difficulties in infancy	7546	ZIC2	ORPHA:220386
HP:0008872	Feeding difficulties in infancy	6491	STIL	ORPHA:93926
HP:0008872	Feeding difficulties in infancy	6491	STIL	ORPHA:93924
HP:0008872	Feeding difficulties in infancy	6491	STIL	ORPHA:93925
HP:0008872	Feeding difficulties in infancy	6491	STIL	ORPHA:220386
HP:0008872	Feeding difficulties in infancy	2619	GAS1	ORPHA:93926
HP:0008872	Feeding difficulties in infancy	2619	GAS1	ORPHA:93924
HP:0008872	Feeding difficulties in infancy	2619	GAS1	ORPHA:93925
HP:0008872	Feeding difficulties in infancy	2619	GAS1	ORPHA:220386
HP:0008872	Feeding difficulties in infancy	84976	DISP1	ORPHA:93926
HP:0008872	Feeding difficulties in infancy	84976	DISP1	ORPHA:93924
HP:0008872	Feeding difficulties in infancy	84976	DISP1	ORPHA:93925
HP:0008872	Feeding difficulties in infancy	84976	DISP1	ORPHA:220386
HP:0008872	Feeding difficulties in infancy	2736	GLI2	ORPHA:93926
HP:0008872	Feeding difficulties in infancy	2736	GLI2	ORPHA:93924
HP:0008872	Feeding difficulties in infancy	2736	GLI2	ORPHA:93925
HP:0008872	Feeding difficulties in infancy	2736	GLI2	ORPHA:220386
HP:0008872	Feeding difficulties in infancy	8928	FOXH1	ORPHA:93926
HP:0008872	Feeding difficulties in infancy	8928	FOXH1	ORPHA:93924
HP:0008872	Feeding difficulties in infancy	8928	FOXH1	ORPHA:93925
HP:0008872	Feeding difficulties in infancy	8928	FOXH1	ORPHA:220386
HP:0008872	Feeding difficulties in infancy	6997	CRIPTO	ORPHA:93926
HP:0008872	Feeding difficulties in infancy	6997	CRIPTO	ORPHA:93924
HP:0008872	Feeding difficulties in infancy	6997	CRIPTO	ORPHA:93925
HP:0008872	Feeding difficulties in infancy	6997	CRIPTO	ORPHA:220386
HP:0008872	Feeding difficulties in infancy	5727	PTCH1	ORPHA:93926
HP:0008872	Feeding difficulties in infancy	5727	PTCH1	ORPHA:93924
HP:0008872	Feeding difficulties in infancy	5727	PTCH1	ORPHA:93925
HP:0008872	Feeding difficulties in infancy	5727	PTCH1	ORPHA:220386
HP:0008872	Feeding difficulties in infancy	50937	CDON	ORPHA:93926
HP:0008872	Feeding difficulties in infancy	50937	CDON	ORPHA:93924
HP:0008872	Feeding difficulties in infancy	50937	CDON	ORPHA:93925
HP:0008872	Feeding difficulties in infancy	50937	CDON	ORPHA:220386
HP:0008872	Feeding difficulties in infancy	2783	GNB2	OMIM:619503
HP:0008872	Feeding difficulties in infancy	2260	FGFR1	ORPHA:93924
HP:0008872	Feeding difficulties in infancy	2260	FGFR1	ORPHA:220386
HP:0008872	Feeding difficulties in infancy	23007	PLCH1	ORPHA:93925
HP:0008872	Feeding difficulties in infancy	10735	STAG2	ORPHA:93925
HP:0008872	Feeding difficulties in infancy	10735	STAG2	ORPHA:220386
HP:0008872	Feeding difficulties in infancy	1974	EIF4A2	OMIM:620455
HP:0008872	Feeding difficulties in infancy	2629	GBA1	ORPHA:85212
HP:0008872	Feeding difficulties in infancy	6711	SPTBN1	OMIM:619475
HP:0008872	Feeding difficulties in infancy	1103	CHAT	OMIM:254210
HP:0008872	Feeding difficulties in infancy	1103	CHAT	ORPHA:98914
HP:0008872	Feeding difficulties in infancy	9453	GGPS1	OMIM:619518
HP:0008872	Feeding difficulties in infancy	8021	NUP214	OMIM:618426
HP:0008872	Feeding difficulties in infancy	2643	GCH1	OMIM:233910
HP:0008872	Feeding difficulties in infancy	526	ATP6V1B2	ORPHA:79500
HP:0008872	Feeding difficulties in infancy	57465	TBC1D24	ORPHA:79500
HP:0008872	Feeding difficulties in infancy	374879	ZNF699	OMIM:619488
HP:0008872	Feeding difficulties in infancy	7385	UQCRC2	OMIM:615160
HP:0008872	Feeding difficulties in infancy	116461	TSEN15	ORPHA:2524
HP:0008872	Feeding difficulties in infancy	79042	TSEN34	ORPHA:2524
HP:0008872	Feeding difficulties in infancy	51091	SEPSECS	ORPHA:2524
HP:0008872	Feeding difficulties in infancy	4649	MYO9A	ORPHA:98914
HP:0008872	Feeding difficulties in infancy	1305	COL13A1	ORPHA:98914
HP:0008872	Feeding difficulties in infancy	6843	VAMP1	ORPHA:98914
HP:0008872	Feeding difficulties in infancy	375790	AGRN	ORPHA:98914
HP:0008872	Feeding difficulties in infancy	127833	SYT2	ORPHA:98914
HP:0008872	Feeding difficulties in infancy	6572	SLC18A3	ORPHA:98914
HP:0008872	Feeding difficulties in infancy	6616	SNAP25	ORPHA:98914
HP:0008872	Feeding difficulties in infancy	3913	LAMB2	ORPHA:98915
HP:0008872	Feeding difficulties in infancy	57038	RARS2	OMIM:611523
HP:0008872	Feeding difficulties in infancy	60386	SLC25A19	OMIM:607196
HP:0008872	Feeding difficulties in infancy	4841	NONO	ORPHA:466791
HP:0008872	Feeding difficulties in infancy	10084	PQBP1	OMIM:309500
HP:0008872	Feeding difficulties in infancy	5805	PTS	OMIM:261640
HP:0008872	Feeding difficulties in infancy	3798	KIF5A	OMIM:617235
HP:0008872	Feeding difficulties in infancy	7317	UBA1	ORPHA:1145
HP:0008872	Feeding difficulties in infancy	79651	RHBDF2	ORPHA:2198
HP:0008872	Feeding difficulties in infancy	57731	SPTBN4	OMIM:617519
HP:0008872	Feeding difficulties in infancy	129285	PPP1R21	OMIM:619383
HP:0008872	Feeding difficulties in infancy	2742	GLRA2	OMIM:301076
HP:0008872	Feeding difficulties in infancy	1892	ECHS1	OMIM:616277
HP:0008872	Feeding difficulties in infancy	133686	NADK2	OMIM:616034
HP:0008872	Feeding difficulties in infancy	7543	ZFX	OMIM:301118
HP:0008872	Feeding difficulties in infancy	667	DST	OMIM:614653
HP:0008872	Feeding difficulties in infancy	1140	CHRNB1	OMIM:616313
HP:0008872	Feeding difficulties in infancy	27429	HTRA2	OMIM:617248
HP:0008872	Feeding difficulties in infancy	9373	PLAA	OMIM:617527
HP:0008872	Feeding difficulties in infancy	6664	SOX11	OMIM:615866
HP:0008872	Feeding difficulties in infancy	6792	CDKL5	ORPHA:1934
HP:0008872	Feeding difficulties in infancy	3736	KCNA1	ORPHA:1934
HP:0008872	Feeding difficulties in infancy	140679	SLC32A1	ORPHA:1934
HP:0008872	Feeding difficulties in infancy	2775	GNAO1	ORPHA:1934
HP:0008872	Feeding difficulties in infancy	81603	TRIM8	ORPHA:1934
HP:0008872	Feeding difficulties in infancy	2902	GRIN1	ORPHA:1934
HP:0008872	Feeding difficulties in infancy	79751	SLC25A22	ORPHA:1934
HP:0008872	Feeding difficulties in infancy	150094	SIK1	ORPHA:1934
HP:0008872	Feeding difficulties in infancy	23312	DMXL2	ORPHA:1934
HP:0008872	Feeding difficulties in infancy	2917	GRM7	ORPHA:1934
HP:0008872	Feeding difficulties in infancy	11284	PNKP	ORPHA:1934
HP:0008872	Feeding difficulties in infancy	6326	SCN2A	ORPHA:1934
HP:0008872	Feeding difficulties in infancy	51227	PIGP	ORPHA:1934
HP:0008872	Feeding difficulties in infancy	6324	SCN1B	ORPHA:1934
HP:0008872	Feeding difficulties in infancy	4761	NEUROD2	ORPHA:1934
HP:0008872	Feeding difficulties in infancy	6888	TALDO1	OMIM:606003
HP:0008872	Feeding difficulties in infancy	9131	AIFM1	ORPHA:238329
HP:0008872	Feeding difficulties in infancy	11198	SUPT16H	ORPHA:261229
HP:0008872	Feeding difficulties in infancy	57680	CHD8	ORPHA:261229
HP:0008872	Feeding difficulties in infancy	7528	YY1	ORPHA:506358
HP:0008872	Feeding difficulties in infancy	4524	MTHFR	ORPHA:395
HP:0008872	Feeding difficulties in infancy	6535	SLC6A8	OMIM:300352
HP:0008872	Feeding difficulties in infancy	4621	MYH3	ORPHA:2053
HP:0008872	Feeding difficulties in infancy	4621	MYH3	OMIM:193700
HP:0008872	Feeding difficulties in infancy	259232	NALCN	ORPHA:2053
HP:0008872	Feeding difficulties in infancy	199857	ALG14	OMIM:619036
HP:0008872	Feeding difficulties in infancy	51399	TRAPPC4	OMIM:618741
HP:0008872	Feeding difficulties in infancy	8518	ELP1	ORPHA:1764
HP:0008872	Feeding difficulties in infancy	8518	ELP1	OMIM:223900
HP:0008872	Feeding difficulties in infancy	1024	CDK8	OMIM:618748
HP:0008872	Feeding difficulties in infancy	652	BMP4	ORPHA:828
HP:0008872	Feeding difficulties in infancy	652	BMP4	ORPHA:199306
HP:0008872	Feeding difficulties in infancy	673	BRAF	OMIM:115150
HP:0008872	Feeding difficulties in infancy	673	BRAF	ORPHA:1340
HP:0008872	Feeding difficulties in infancy	673	BRAF	OMIM:613706
HP:0008872	Feeding difficulties in infancy	673	BRAF	OMIM:163950
HP:0008872	Feeding difficulties in infancy	7360	UGP2	OMIM:618744
HP:0008872	Feeding difficulties in infancy	145173	B3GLCT	ORPHA:709
HP:0008872	Feeding difficulties in infancy	145173	B3GLCT	OMIM:261540
HP:0008872	Feeding difficulties in infancy	22800	RRAS2	OMIM:618624
HP:0008872	Feeding difficulties in infancy	22800	RRAS2	ORPHA:648
HP:0008872	Feeding difficulties in infancy	23126	POGZ	ORPHA:468678
HP:0008872	Feeding difficulties in infancy	1161	ERCC8	ORPHA:90322
HP:0008872	Feeding difficulties in infancy	2067	ERCC1	ORPHA:90322
HP:0008872	Feeding difficulties in infancy	2067	ERCC1	ORPHA:1466
HP:0008872	Feeding difficulties in infancy	2074	ERCC6	ORPHA:90322
HP:0008872	Feeding difficulties in infancy	2074	ERCC6	ORPHA:1466
HP:0008872	Feeding difficulties in infancy	3190	HNRNPK	ORPHA:453504
HP:0008872	Feeding difficulties in infancy	3190	HNRNPK	ORPHA:352665
HP:0008872	Feeding difficulties in infancy	3481	IGF2	ORPHA:231140
HP:0008872	Feeding difficulties in infancy	3481	IGF2	ORPHA:397590
HP:0008872	Feeding difficulties in infancy	283120	H19	ORPHA:231140
HP:0008872	Feeding difficulties in infancy	7849	PAX8	OMIM:218700
HP:0008872	Feeding difficulties in infancy	10743	RAI1	ORPHA:477817
HP:0008872	Feeding difficulties in infancy	10743	RAI1	ORPHA:819
HP:0008872	Feeding difficulties in infancy	80232	WDR26	ORPHA:513456
HP:0008872	Feeding difficulties in infancy	7259	TSPYL1	OMIM:608800
HP:0008872	Feeding difficulties in infancy	116931	MED12L	OMIM:618872
HP:0008872	Feeding difficulties in infancy	6341	SCO1	OMIM:619048
HP:0008872	Feeding difficulties in infancy	6729	SRP54	OMIM:618752
HP:0008872	Feeding difficulties in infancy	57589	RIC1	ORPHA:199306
HP:0008872	Feeding difficulties in infancy	5818	NECTIN1	ORPHA:199306
HP:0008872	Feeding difficulties in infancy	1739	DLG1	ORPHA:199306
HP:0008872	Feeding difficulties in infancy	999	CDH1	ORPHA:199306
HP:0008872	Feeding difficulties in infancy	5156	PDGFRA	ORPHA:199306
HP:0008872	Feeding difficulties in infancy	3664	IRF6	ORPHA:199306
HP:0008872	Feeding difficulties in infancy	1748	DLX4	ORPHA:199306
HP:0008872	Feeding difficulties in infancy	4487	MSX1	ORPHA:199306
HP:0008872	Feeding difficulties in infancy	8626	TP63	ORPHA:199306
HP:0008872	Feeding difficulties in infancy	22837	COBLL1	ORPHA:199306
HP:0008872	Feeding difficulties in infancy	54848	ARHGEF38	ORPHA:199306
HP:0008872	Feeding difficulties in infancy	9411	ARHGAP29	ORPHA:199306
HP:0008872	Feeding difficulties in infancy	89910	UBE3B	OMIM:244450
HP:0008872	Feeding difficulties in infancy	1352	COX10	OMIM:619046
HP:0008872	Feeding difficulties in infancy	3141	HLCS	OMIM:253270
HP:0008872	Feeding difficulties in infancy	10686	CLDN16	OMIM:248250
HP:0008872	Feeding difficulties in infancy	2314	FLII	ORPHA:819
HP:0008872	Feeding difficulties in infancy	23096	IQSEC2	ORPHA:819
HP:0008872	Feeding difficulties in infancy	10522	DEAF1	ORPHA:819
HP:0008872	Feeding difficulties in infancy	1717	DHCR7	ORPHA:818
HP:0008872	Feeding difficulties in infancy	25782	RAB3GAP2	OMIM:212720
HP:0008872	Feeding difficulties in infancy	25782	RAB3GAP2	ORPHA:1387
HP:0008872	Feeding difficulties in infancy	55636	CHD7	ORPHA:138
HP:0008872	Feeding difficulties in infancy	9723	SEMA3E	ORPHA:138
HP:0008872	Feeding difficulties in infancy	9382	COG1	OMIM:611209
HP:0008872	Feeding difficulties in infancy	63908	NAPB	OMIM:620033
HP:0008872	Feeding difficulties in infancy	7253	TSHR	ORPHA:90673
HP:0008872	Feeding difficulties in infancy	7252	TSHB	ORPHA:90674
HP:0008872	Feeding difficulties in infancy	2263	FGFR2	ORPHA:87
HP:0008872	Feeding difficulties in infancy	2263	FGFR2	OMIM:123790
HP:0008872	Feeding difficulties in infancy	56992	KIF15	ORPHA:261323
HP:0008872	Feeding difficulties in infancy	55687	TRMU	OMIM:613070
HP:0008872	Feeding difficulties in infancy	170302	ARX	OMIM:300215
HP:0008872	Feeding difficulties in infancy	57492	ARID1B	OMIM:135900
HP:0008872	Feeding difficulties in infancy	146862	UNC45B	OMIM:619178
HP:0008872	Feeding difficulties in infancy	274	BIN1	OMIM:255200
HP:0008872	Feeding difficulties in infancy	6261	RYR1	OMIM:255320
HP:0008872	Feeding difficulties in infancy	54880	BCOR	ORPHA:2712
HP:0008872	Feeding difficulties in infancy	10381	TUBB3	ORPHA:300570
HP:0008872	Feeding difficulties in infancy	686	BTD	OMIM:253260
HP:0008872	Feeding difficulties in infancy	55681	SCYL2	OMIM:618766
HP:0008872	Feeding difficulties in infancy	170825	GSX2	OMIM:618646
HP:0008872	Feeding difficulties in infancy	7841	MOGS	OMIM:606056
HP:0008872	Feeding difficulties in infancy	546	ATRX	ORPHA:847
HP:0008872	Feeding difficulties in infancy	157680	VPS13B	OMIM:216550
HP:0008872	Feeding difficulties in infancy	157680	VPS13B	ORPHA:193
HP:0008872	Feeding difficulties in infancy	1716	DGUOK	OMIM:251880
HP:0008872	Feeding difficulties in infancy	5095	PCCA	OMIM:606054
HP:0008872	Feeding difficulties in infancy	5096	PCCB	OMIM:606054
HP:0008872	Feeding difficulties in infancy	171023	ASXL1	ORPHA:97297
HP:0008872	Feeding difficulties in infancy	26053	AUTS2	ORPHA:352490
HP:0008872	Feeding difficulties in infancy	7386	UQCRFS1	OMIM:618775
HP:0008872	Feeding difficulties in infancy	88	ACTN2	OMIM:618654
HP:0008872	Feeding difficulties in infancy	833	CARS1	OMIM:618891
HP:0008872	Feeding difficulties in infancy	57178	ZMIZ1	OMIM:618659
HP:0008872	Feeding difficulties in infancy	5813	PURA	ORPHA:438216
HP:0008872	Feeding difficulties in infancy	5813	PURA	ORPHA:314655
HP:0008872	Feeding difficulties in infancy	1641	DCX	ORPHA:2148
HP:0008872	Feeding difficulties in infancy	6662	SOX9	ORPHA:718
HP:0008872	Feeding difficulties in infancy	284184	NDUFAF8	OMIM:618776
HP:0008872	Feeding difficulties in infancy	51021	MRPS16	OMIM:610498
HP:0008872	Feeding difficulties in infancy	56922	MCCC1	OMIM:210200
HP:0008872	Feeding difficulties in infancy	113235	SLC46A1	OMIM:229050
HP:0008872	Feeding difficulties in infancy	6602	SMARCD1	OMIM:618779
HP:0008872	Feeding difficulties in infancy	25942	SIN3A	OMIM:613406
HP:0008872	Feeding difficulties in infancy	5193	PEX12	OMIM:614859
HP:0008872	Feeding difficulties in infancy	5193	PEX12	ORPHA:912
HP:0008872	Feeding difficulties in infancy	8517	IKBKG	ORPHA:98813
HP:0008872	Feeding difficulties in infancy	4792	NFKBIA	ORPHA:98813
HP:0008872	Feeding difficulties in infancy	2200	FBN1	OMIM:616914
HP:0008872	Feeding difficulties in infancy	5373	PMM2	OMIM:212065
HP:0008872	Feeding difficulties in infancy	4534	MTM1	ORPHA:596
HP:0008872	Feeding difficulties in infancy	9851	KIAA0753	ORPHA:475
HP:0008872	Feeding difficulties in infancy	9851	KIAA0753	ORPHA:474
HP:0008872	Feeding difficulties in infancy	9851	KIAA0753	ORPHA:2754
HP:0008872	Feeding difficulties in infancy	5147	PDE6D	ORPHA:475
HP:0008872	Feeding difficulties in infancy	5147	PDE6D	ORPHA:2754
HP:0008872	Feeding difficulties in infancy	79600	TCTN1	ORPHA:475
HP:0008872	Feeding difficulties in infancy	79848	CSPP1	ORPHA:475
HP:0008872	Feeding difficulties in infancy	8481	OFD1	ORPHA:475
HP:0008872	Feeding difficulties in infancy	8481	OFD1	OMIM:300804
HP:0008872	Feeding difficulties in infancy	8481	OFD1	ORPHA:2754
HP:0008872	Feeding difficulties in infancy	51684	SUFU	ORPHA:475
HP:0008872	Feeding difficulties in infancy	54806	AHI1	ORPHA:475
HP:0008872	Feeding difficulties in infancy	153241	CEP120	ORPHA:475
HP:0008872	Feeding difficulties in infancy	153241	CEP120	ORPHA:474
HP:0008872	Feeding difficulties in infancy	65250	CPLANE1	ORPHA:475
HP:0008872	Feeding difficulties in infancy	65250	CPLANE1	ORPHA:2754
HP:0008872	Feeding difficulties in infancy	91147	TMEM67	ORPHA:475
HP:0008872	Feeding difficulties in infancy	91147	TMEM67	ORPHA:1454
HP:0008872	Feeding difficulties in infancy	200894	ARL13B	ORPHA:475
HP:0008872	Feeding difficulties in infancy	9731	CEP104	ORPHA:475
HP:0008872	Feeding difficulties in infancy	219844	HYLS1	ORPHA:475
HP:0008872	Feeding difficulties in infancy	23247	KATNIP	ORPHA:475
HP:0008872	Feeding difficulties in infancy	219854	TMEM218	ORPHA:475
HP:0008872	Feeding difficulties in infancy	54903	MKS1	ORPHA:475
HP:0008872	Feeding difficulties in infancy	95681	CEP41	ORPHA:475
HP:0008872	Feeding difficulties in infancy	9786	KIAA0586	ORPHA:475
HP:0008872	Feeding difficulties in infancy	56623	INPP5E	ORPHA:475
HP:0008872	Feeding difficulties in infancy	56623	INPP5E	ORPHA:1454
HP:0008872	Feeding difficulties in infancy	26123	TCTN3	ORPHA:475
HP:0008872	Feeding difficulties in infancy	26123	TCTN3	ORPHA:2754
HP:0008872	Feeding difficulties in infancy	79867	TCTN2	ORPHA:475
HP:0008872	Feeding difficulties in infancy	80776	B9D2	ORPHA:475
HP:0008872	Feeding difficulties in infancy	10464	PIBF1	ORPHA:475
HP:0008872	Feeding difficulties in infancy	80210	ARMC9	ORPHA:475
HP:0008872	Feeding difficulties in infancy	23116	TOGARAM1	ORPHA:475
HP:0008872	Feeding difficulties in infancy	25776	CBY1	ORPHA:475
HP:0008872	Feeding difficulties in infancy	27077	B9D1	ORPHA:475
HP:0008872	Feeding difficulties in infancy	403	ARL3	ORPHA:475
HP:0008872	Feeding difficulties in infancy	80173	IFT74	ORPHA:475
HP:0008872	Feeding difficulties in infancy	65062	TMEM237	ORPHA:475
HP:0008872	Feeding difficulties in infancy	55112	DYNC2I1	ORPHA:474
HP:0008872	Feeding difficulties in infancy	26160	IFT172	ORPHA:474
HP:0008872	Feeding difficulties in infancy	57560	IFT80	ORPHA:474
HP:0008872	Feeding difficulties in infancy	51626	DYNC2LI1	ORPHA:474
HP:0008872	Feeding difficulties in infancy	79659	DYNC2H1	ORPHA:474
HP:0008872	Feeding difficulties in infancy	9742	IFT140	ORPHA:474
HP:0008872	Feeding difficulties in infancy	57728	WDR19	ORPHA:474
HP:0008872	Feeding difficulties in infancy	89891	DYNC2I2	ORPHA:474
HP:0008872	Feeding difficulties in infancy	79809	TTC21B	ORPHA:474
HP:0008872	Feeding difficulties in infancy	3981	LIG4	ORPHA:235
HP:0008872	Feeding difficulties in infancy	54888	NSUN2	ORPHA:235
HP:0008872	Feeding difficulties in infancy	4953	ODC1	OMIM:619075
HP:0008872	Feeding difficulties in infancy	4204	MECP2	OMIM:300673
HP:0008872	Feeding difficulties in infancy	593	BCKDHA	OMIM:248600
HP:0008872	Feeding difficulties in infancy	5626	PROP1	ORPHA:226307
HP:0008872	Feeding difficulties in infancy	89884	LHX4	ORPHA:226307
HP:0008872	Feeding difficulties in infancy	8022	LHX3	ORPHA:226307
HP:0008872	Feeding difficulties in infancy	5449	POU1F1	ORPHA:226307
HP:0008872	Feeding difficulties in infancy	8820	HESX1	ORPHA:226307
HP:0008872	Feeding difficulties in infancy	5190	PEX6	OMIM:614862
HP:0008872	Feeding difficulties in infancy	5190	PEX6	ORPHA:912
HP:0008872	Feeding difficulties in infancy	5828	PEX2	OMIM:614866
HP:0008872	Feeding difficulties in infancy	5828	PEX2	ORPHA:912
HP:0008872	Feeding difficulties in infancy	9091	PIGQ	OMIM:618548
HP:0008872	Feeding difficulties in infancy	6049	RNF6	ORPHA:99977
HP:0008872	Feeding difficulties in infancy	7048	TGFBR2	ORPHA:99977
HP:0008872	Feeding difficulties in infancy	51741	WWOX	ORPHA:99977
HP:0008872	Feeding difficulties in infancy	9940	DLEC1	ORPHA:99977
HP:0008872	Feeding difficulties in infancy	5590	PRKCZ	ORPHA:1606
HP:0008872	Feeding difficulties in infancy	2563	GABRD	ORPHA:1606
HP:0008872	Feeding difficulties in infancy	23013	SPEN	ORPHA:1606
HP:0008872	Feeding difficulties in infancy	8510	MMP23B	ORPHA:1606
HP:0008872	Feeding difficulties in infancy	7798	LUZP1	ORPHA:1606
HP:0008872	Feeding difficulties in infancy	6497	SKI	ORPHA:1606
HP:0008872	Feeding difficulties in infancy	6497	SKI	OMIM:182212
HP:0008872	Feeding difficulties in infancy	10630	PDPN	ORPHA:1606
HP:0008872	Feeding difficulties in infancy	3339	HSPG2	ORPHA:1606
HP:0008872	Feeding difficulties in infancy	3339	HSPG2	ORPHA:800
HP:0008872	Feeding difficulties in infancy	10277	UBE4B	ORPHA:1606
HP:0008872	Feeding difficulties in infancy	8514	KCNAB2	ORPHA:1606
HP:0008872	Feeding difficulties in infancy	473	RERE	ORPHA:1606
HP:0008872	Feeding difficulties in infancy	63976	PRDM16	ORPHA:1606
HP:0008872	Feeding difficulties in infancy	54897	CASZ1	ORPHA:1606
HP:0008872	Feeding difficulties in infancy	493856	CISD2	ORPHA:3463
HP:0008872	Feeding difficulties in infancy	7466	WFS1	ORPHA:3463
HP:0008872	Feeding difficulties in infancy	4784	NFIX	ORPHA:420179
HP:0008872	Feeding difficulties in infancy	7337	UBE3A	OMIM:105830
HP:0008872	Feeding difficulties in infancy	7337	UBE3A	ORPHA:411515
HP:0008872	Feeding difficulties in infancy	6638	SNRPN	OMIM:105830
HP:0008872	Feeding difficulties in infancy	6638	SNRPN	ORPHA:98754
HP:0008872	Feeding difficulties in infancy	6638	SNRPN	ORPHA:177904
HP:0008872	Feeding difficulties in infancy	6638	SNRPN	ORPHA:177901
HP:0008872	Feeding difficulties in infancy	6638	SNRPN	ORPHA:177910
HP:0008872	Feeding difficulties in infancy	6638	SNRPN	ORPHA:177907
HP:0008872	Feeding difficulties in infancy	6638	SNRPN	ORPHA:411515
HP:0008872	Feeding difficulties in infancy	58	ACTA1	OMIM:161800
HP:0008872	Feeding difficulties in infancy	80025	PANK2	OMIM:234200
HP:0008872	Feeding difficulties in infancy	6609	SMPD1	OMIM:257200
HP:0008872	Feeding difficulties in infancy	166785	MMAA	OMIM:251100
HP:0008872	Feeding difficulties in infancy	10907	TXNL4A	OMIM:608572
HP:0008872	Feeding difficulties in infancy	10436	EMG1	ORPHA:1270
HP:0008872	Feeding difficulties in infancy	2548	GAA	ORPHA:308552
HP:0008872	Feeding difficulties in infancy	554	AVPR2	OMIM:304800
HP:0008872	Feeding difficulties in infancy	5192	PEX10	OMIM:614870
HP:0008872	Feeding difficulties in infancy	5192	PEX10	ORPHA:912
HP:0008872	Feeding difficulties in infancy	4849	CNOT3	OMIM:618672
HP:0008872	Feeding difficulties in infancy	1654	DDX3X	ORPHA:3338
HP:0008872	Feeding difficulties in infancy	1028	CDKN1C	ORPHA:397590
HP:0008872	Feeding difficulties in infancy	5324	PLAG1	ORPHA:397590
HP:0008872	Feeding difficulties in infancy	5324	PLAG1	OMIM:618907
HP:0008872	Feeding difficulties in infancy	8091	HMGA2	ORPHA:397590
HP:0008872	Feeding difficulties in infancy	8091	HMGA2	OMIM:618908
HP:0008872	Feeding difficulties in infancy	11231	SEC63	ORPHA:2924
HP:0008872	Feeding difficulties in infancy	5589	PRKCSH	ORPHA:2924
HP:0008872	Feeding difficulties in infancy	4041	LRP5	ORPHA:2924
HP:0008872	Feeding difficulties in infancy	200424	TET3	OMIM:618798
HP:0008872	Feeding difficulties in infancy	25973	PARS2	OMIM:618437
HP:0008872	Feeding difficulties in infancy	9409	PEX16	OMIM:614876
HP:0008872	Feeding difficulties in infancy	9409	PEX16	ORPHA:912
HP:0008872	Feeding difficulties in infancy	79633	FAT4	ORPHA:314679
HP:0008872	Feeding difficulties in infancy	8642	DCHS1	ORPHA:314679
HP:0008872	Feeding difficulties in infancy	7443	VRK1	OMIM:607596
HP:0008872	Feeding difficulties in infancy	2006	ELN	OMIM:194050
HP:0008872	Feeding difficulties in infancy	51085	MLXIPL	OMIM:194050
HP:0008872	Feeding difficulties in infancy	10667	FARS2	ORPHA:466722
HP:0008872	Feeding difficulties in infancy	4692	NDN	ORPHA:98754
HP:0008872	Feeding difficulties in infancy	4692	NDN	ORPHA:177904
HP:0008872	Feeding difficulties in infancy	4692	NDN	ORPHA:177901
HP:0008872	Feeding difficulties in infancy	4692	NDN	ORPHA:177910
HP:0008872	Feeding difficulties in infancy	54551	MAGEL2	ORPHA:98754
HP:0008872	Feeding difficulties in infancy	54551	MAGEL2	OMIM:176270
HP:0008872	Feeding difficulties in infancy	54551	MAGEL2	ORPHA:177904
HP:0008872	Feeding difficulties in infancy	54551	MAGEL2	ORPHA:177901
HP:0008872	Feeding difficulties in infancy	54551	MAGEL2	ORPHA:177910
HP:0008872	Feeding difficulties in infancy	4948	OCA2	ORPHA:98754
HP:0008872	Feeding difficulties in infancy	4948	OCA2	ORPHA:177904
HP:0008872	Feeding difficulties in infancy	4948	OCA2	ORPHA:177901
HP:0008872	Feeding difficulties in infancy	23314	SATB2	ORPHA:576283
HP:0008872	Feeding difficulties in infancy	23314	SATB2	ORPHA:251028
HP:0008872	Feeding difficulties in infancy	8573	CASK	ORPHA:163937
HP:0008872	Feeding difficulties in infancy	8573	CASK	OMIM:300422
HP:0008872	Feeding difficulties in infancy	27086	FOXP1	OMIM:613670
HP:0008872	Feeding difficulties in infancy	3977	LIFR	ORPHA:3206
HP:0008872	Feeding difficulties in infancy	6389	SDHA	ORPHA:3208
HP:0008872	Feeding difficulties in infancy	6390	SDHB	ORPHA:3208
HP:0008872	Feeding difficulties in infancy	6390	SDHB	OMIM:619224
HP:0008872	Feeding difficulties in infancy	6392	SDHD	ORPHA:3208
HP:0008872	Feeding difficulties in infancy	644096	SDHAF1	ORPHA:3208
HP:0008872	Feeding difficulties in infancy	22930	RAB3GAP1	ORPHA:1387
HP:0008872	Feeding difficulties in infancy	283989	TSEN54	OMIM:277470
HP:0008872	Feeding difficulties in infancy	84295	PHF6	ORPHA:127
HP:0008872	Feeding difficulties in infancy	701	BUB1B	OMIM:257300
HP:0008872	Feeding difficulties in infancy	64324	NSD1	ORPHA:3447
HP:0008872	Feeding difficulties in infancy	23512	SUZ12	ORPHA:3447
HP:0008872	Feeding difficulties in infancy	2146	EZH2	ORPHA:3447
HP:0008872	Feeding difficulties in infancy	6567	SLC16A2	ORPHA:59
HP:0008872	Feeding difficulties in infancy	6567	SLC16A2	OMIM:300523
HP:0008872	Feeding difficulties in infancy	55023	PHIP	ORPHA:589905
HP:0008872	Feeding difficulties in infancy	65125	WNK1	OMIM:201300
HP:0008872	Feeding difficulties in infancy	54463	RETREG1	OMIM:201300
HP:0008872	Feeding difficulties in infancy	6335	SCN9A	OMIM:201300
HP:0008872	Feeding difficulties in infancy	547	KIF1A	OMIM:201300
HP:0008872	Feeding difficulties in infancy	3329	HSPD1	OMIM:612233
HP:0008872	Feeding difficulties in infancy	58497	PRUNE1	ORPHA:544469
HP:0008872	Feeding difficulties in infancy	57724	EPG5	ORPHA:1493
HP:0008872	Feeding difficulties in infancy	55670	PEX26	ORPHA:912
HP:0008872	Feeding difficulties in infancy	5824	PEX19	ORPHA:912
HP:0008872	Feeding difficulties in infancy	8504	PEX3	ORPHA:912
HP:0008872	Feeding difficulties in infancy	8799	PEX11B	ORPHA:912
HP:0008872	Feeding difficulties in infancy	5830	PEX5	ORPHA:912
HP:0008872	Feeding difficulties in infancy	5189	PEX1	ORPHA:912
HP:0008872	Feeding difficulties in infancy	5194	PEX13	ORPHA:912
HP:0008872	Feeding difficulties in infancy	5195	PEX14	ORPHA:912
HP:0008872	Feeding difficulties in infancy	846	CASR	OMIM:239200
HP:0008872	Feeding difficulties in infancy	84705	GTPBP3	ORPHA:444013
HP:0008872	Feeding difficulties in infancy	80816	ASXL3	ORPHA:352577
HP:0008872	Feeding difficulties in infancy	6134	RPL10	OMIM:300998
HP:0008872	Feeding difficulties in infancy	388015	RTL1	ORPHA:254534
HP:0008872	Feeding difficulties in infancy	388015	RTL1	ORPHA:254525
HP:0008872	Feeding difficulties in infancy	8788	DLK1	ORPHA:254534
HP:0008872	Feeding difficulties in infancy	8788	DLK1	ORPHA:254525
HP:0008872	Feeding difficulties in infancy	55384	MEG3	ORPHA:254534
HP:0008872	Feeding difficulties in infancy	55384	MEG3	ORPHA:254525
HP:0008872	Feeding difficulties in infancy	1291	COL6A1	OMIM:254090
HP:0008872	Feeding difficulties in infancy	51728	POLR3K	OMIM:619310
HP:0008872	Feeding difficulties in infancy	3033	HADH	OMIM:231530
HP:0008872	Feeding difficulties in infancy	3033	HADH	ORPHA:71212
HP:0008872	Feeding difficulties in infancy	359	AQP2	OMIM:125800
HP:0008872	Feeding difficulties in infancy	6885	MAP3K7	OMIM:617137
HP:0008872	Feeding difficulties in infancy	51412	ACTL6B	OMIM:618468
HP:0008872	Feeding difficulties in infancy	10102	TSFM	OMIM:610505
HP:0008872	Feeding difficulties in infancy	100033413	SNORD116-1	OMIM:176270
HP:0008872	Feeding difficulties in infancy	8924	HERC2	OMIM:176270
HP:0008872	Feeding difficulties in infancy	23742	NPAP1	OMIM:176270
HP:0008872	Feeding difficulties in infancy	338433	SNORD115-1	OMIM:176270
HP:0008872	Feeding difficulties in infancy	7681	MKRN3	OMIM:176270
HP:0008872	Feeding difficulties in infancy	145624	PWAR1	OMIM:176270
HP:0008872	Feeding difficulties in infancy	3653	IPW	OMIM:176270
HP:0008872	Feeding difficulties in infancy	791114	PWRN1	OMIM:176270
HP:0008872	Feeding difficulties in infancy	55593	OTUD5	OMIM:301056
HP:0008872	Feeding difficulties in infancy	58484	NLRC4	OMIM:616050
HP:0008872	Feeding difficulties in infancy	55869	HDAC8	OMIM:300882
HP:0008872	Feeding difficulties in infancy	55869	HDAC8	ORPHA:199
HP:0008872	Feeding difficulties in infancy	7314	UBB	ORPHA:101023
HP:0008872	Feeding difficulties in infancy	57822	GRHL3	ORPHA:101023
HP:0008872	Feeding difficulties in infancy	3712	IVD	ORPHA:33
HP:0008872	Feeding difficulties in infancy	11277	TREX1	OMIM:225750
HP:0008872	Feeding difficulties in infancy	6651	SON	OMIM:617140
HP:0008872	Feeding difficulties in infancy	6651	SON	ORPHA:500150
HP:0008872	Feeding difficulties in infancy	63895	PIEZO2	OMIM:617146
HP:0008872	Feeding difficulties in infancy	112939	NACC1	ORPHA:500545
HP:0008872	Feeding difficulties in infancy	2033	EP300	ORPHA:353284
HP:0008872	Feeding difficulties in infancy	2033	EP300	OMIM:180849
HP:0008872	Feeding difficulties in infancy	1644	DDC	OMIM:608643
HP:0008872	Feeding difficulties in infancy	1760	DMPK	OMIM:160900
HP:0008872	Feeding difficulties in infancy	4952	OCRL	ORPHA:534
HP:0008872	Feeding difficulties in infancy	9126	SMC3	OMIM:610759
HP:0008872	Feeding difficulties in infancy	9126	SMC3	ORPHA:199
HP:0008872	Feeding difficulties in infancy	29954	POMT2	OMIM:236670
HP:0008872	Feeding difficulties in infancy	79147	FKRP	OMIM:236670
HP:0008872	Feeding difficulties in infancy	2218	FKTN	OMIM:236670
HP:0008872	Feeding difficulties in infancy	10585	POMT1	OMIM:236670
HP:0008872	Feeding difficulties in infancy	9215	LARGE1	OMIM:236670
HP:0008872	Feeding difficulties in infancy	8869	ST3GAL5	OMIM:609056
HP:0008872	Feeding difficulties in infancy	5980	REV3L	ORPHA:570
HP:0008872	Feeding difficulties in infancy	23129	PLXND1	ORPHA:570
HP:0008872	Feeding difficulties in infancy	1145	CHRNE	OMIM:605809
HP:0008872	Feeding difficulties in infancy	7084	TK2	ORPHA:254875
HP:0008872	Feeding difficulties in infancy	84340	GFM2	ORPHA:565624
HP:0008872	Feeding difficulties in infancy	4998	ORC1	OMIM:224690
HP:0008872	Feeding difficulties in infancy	8831	SYNGAP1	ORPHA:544254
HP:0008872	Feeding difficulties in infancy	2068	ERCC2	ORPHA:1466
HP:0008872	Feeding difficulties in infancy	2073	ERCC5	ORPHA:1466
HP:0008872	Feeding difficulties in infancy	7169	TPM2	OMIM:609285
HP:0008872	Feeding difficulties in infancy	405753	DUOXA2	ORPHA:95716
HP:0008872	Feeding difficulties in infancy	6528	SLC5A5	ORPHA:95716
HP:0008872	Feeding difficulties in infancy	7038	TG	ORPHA:95716
HP:0008872	Feeding difficulties in infancy	7173	TPO	ORPHA:95716
HP:0008872	Feeding difficulties in infancy	389434	IYD	ORPHA:95716
HP:0008872	Feeding difficulties in infancy	50506	DUOX2	ORPHA:95716
HP:0008872	Feeding difficulties in infancy	201163	FLCN	OMIM:610883
HP:0008872	Feeding difficulties in infancy	5604	MAP2K1	ORPHA:1340
HP:0008872	Feeding difficulties in infancy	5604	MAP2K1	OMIM:163950
HP:0008872	Feeding difficulties in infancy	5605	MAP2K2	ORPHA:1340
HP:0008872	Feeding difficulties in infancy	3845	KRAS	ORPHA:1340
HP:0008872	Feeding difficulties in infancy	3845	KRAS	ORPHA:648
HP:0008872	Feeding difficulties in infancy	1585	CYP11B2	OMIM:203400
HP:0008872	Feeding difficulties in infancy	1312	COMT	ORPHA:567
HP:0008872	Feeding difficulties in infancy	221037	JMJD1C	ORPHA:567
HP:0008872	Feeding difficulties in infancy	2812	GP1BB	ORPHA:567
HP:0008872	Feeding difficulties in infancy	6239	RREB1	ORPHA:567
HP:0008872	Feeding difficulties in infancy	6899	TBX1	ORPHA:567
HP:0008872	Feeding difficulties in infancy	7290	HIRA	ORPHA:567
HP:0008872	Feeding difficulties in infancy	9632	SEC24C	ORPHA:567
HP:0008872	Feeding difficulties in infancy	7353	UFD1	ORPHA:567
HP:0008872	Feeding difficulties in infancy	421	ARVCF	ORPHA:567
HP:0008872	Feeding difficulties in infancy	128989	TANGO2	ORPHA:480864
HP:0008872	Feeding difficulties in infancy	22827	PUF60	ORPHA:508488
HP:0008872	Feeding difficulties in infancy	538	ATP7A	ORPHA:565
HP:0008872	Feeding difficulties in infancy	3265	HRAS	ORPHA:3071
HP:0008872	Feeding difficulties in infancy	7703	PCGF2	OMIM:618371
HP:0008872	Feeding difficulties in infancy	6045	RNF2	OMIM:619460
HP:0008872	Feeding difficulties in infancy	29968	PSAT1	ORPHA:284417
HP:0008872	Feeding difficulties in infancy	6329	SCN4A	ORPHA:682
HP:0008872	Feeding difficulties in infancy	55163	PNPO	OMIM:610090
HP:0008872	Feeding difficulties in infancy	22808	MRAS	OMIM:618499
HP:0008872	Feeding difficulties in infancy	22808	MRAS	ORPHA:648
HP:0008872	Feeding difficulties in infancy	11342	RNF13	OMIM:618379
HP:0008872	Feeding difficulties in infancy	51300	TIMMDC1	OMIM:618251
HP:0008872	Feeding difficulties in infancy	7403	KDM6A	OMIM:300867
HP:0008872	Feeding difficulties in infancy	7403	KDM6A	OMIM:147920
HP:0008872	Feeding difficulties in infancy	84818	IL17RC	ORPHA:1334
HP:0008872	Feeding difficulties in infancy	64581	CLEC7A	ORPHA:1334
HP:0008872	Feeding difficulties in infancy	23765	IL17RA	ORPHA:1334
HP:0008872	Feeding difficulties in infancy	10758	TRAF3IP2	ORPHA:1334
HP:0008872	Feeding difficulties in infancy	112744	IL17F	ORPHA:1334
HP:0008872	Feeding difficulties in infancy	128637	TBC1D20	OMIM:615663
HP:0008872	Feeding difficulties in infancy	23322	RPGRIP1L	ORPHA:1454
HP:0008872	Feeding difficulties in infancy	57545	CC2D2A	ORPHA:1454
HP:0008872	Feeding difficulties in infancy	55210	ATAD3A	OMIM:618810
HP:0008872	Feeding difficulties in infancy	25939	SAMHD1	OMIM:612952
HP:0008872	Feeding difficulties in infancy	9244	CRLF1	OMIM:272430
HP:0008872	Feeding difficulties in infancy	9343	EFTUD2	OMIM:610536
HP:0008872	Feeding difficulties in infancy	2313	FLI1	ORPHA:2308
HP:0008872	Feeding difficulties in infancy	326625	MMAB	OMIM:251110
HP:0008872	Feeding difficulties in infancy	6874	TAF4	OMIM:620450
HP:0008872	Feeding difficulties in infancy	84172	POLR1B	OMIM:618939
HP:0008872	Feeding difficulties in infancy	84172	POLR1B	ORPHA:861
HP:0008872	Feeding difficulties in infancy	23476	BRD4	ORPHA:199
HP:0008872	Feeding difficulties in infancy	8243	SMC1A	ORPHA:199
HP:0008872	Feeding difficulties in infancy	6878	TAF6	ORPHA:199
HP:0008872	Feeding difficulties in infancy	25836	NIPBL	ORPHA:199
HP:0008872	Feeding difficulties in infancy	5885	RAD21	ORPHA:199
HP:0008872	Feeding difficulties in infancy	6197	RPS6KA3	ORPHA:192
HP:0008872	Feeding difficulties in infancy	51241	COX16	OMIM:619355
HP:0008872	Feeding difficulties in infancy	7874	USP7	ORPHA:500055
HP:0008872	Feeding difficulties in infancy	5913	RAPSN	OMIM:618388
HP:0008872	Feeding difficulties in infancy	410	ARSA	ORPHA:309256
HP:0008872	Feeding difficulties in infancy	5660	PSAP	ORPHA:309256
HP:0008872	Feeding difficulties in infancy	4567	MT-TL1	ORPHA:324525
HP:0008872	Feeding difficulties in infancy	1387	CREBBP	OMIM:180849
HP:0008872	Feeding difficulties in infancy	1387	CREBBP	ORPHA:592574
HP:0008872	Feeding difficulties in infancy	1387	CREBBP	ORPHA:353277
HP:0008872	Feeding difficulties in infancy	7204	TRIO	OMIM:618825
HP:0008872	Feeding difficulties in infancy	7204	TRIO	ORPHA:476126
HP:0008872	Feeding difficulties in infancy	1859	DYRK1A	OMIM:614104
HP:0008872	Feeding difficulties in infancy	4337	MOCS1	OMIM:252150
HP:0008872	Feeding difficulties in infancy	435	ASL	OMIM:207900
HP:0008872	Feeding difficulties in infancy	3032	HADHB	ORPHA:746
HP:0008872	Feeding difficulties in infancy	3030	HADHA	ORPHA:746
HP:0008872	Feeding difficulties in infancy	29926	GMPPA	ORPHA:869
HP:0008872	Feeding difficulties in infancy	60684	TRAPPC11	ORPHA:869
HP:0008872	Feeding difficulties in infancy	8086	AAAS	ORPHA:869
HP:0008872	Feeding difficulties in infancy	7040	TGFB1	ORPHA:1328
HP:0008872	Feeding difficulties in infancy	8405	SPOP	OMIM:618829
HP:0008872	Feeding difficulties in infancy	23545	ATP6V0A2	OMIM:219200
HP:0008872	Feeding difficulties in infancy	2887	GRB10	ORPHA:96182
HP:0008872	Feeding difficulties in infancy	9533	POLR1C	ORPHA:861
HP:0008872	Feeding difficulties in infancy	51082	POLR1D	ORPHA:861
HP:0008872	Feeding difficulties in infancy	6949	TCOF1	ORPHA:861
HP:0008872	Feeding difficulties in infancy	6452	SH3BP2	ORPHA:184
HP:0008872	Feeding difficulties in infancy	23556	PIGN	ORPHA:280633
HP:0008872	Feeding difficulties in infancy	6340	SCNN1G	ORPHA:171876
HP:0008872	Feeding difficulties in infancy	6337	SCNN1A	ORPHA:171876
HP:0008872	Feeding difficulties in infancy	6337	SCNN1A	OMIM:264350
HP:0008872	Feeding difficulties in infancy	6338	SCNN1B	ORPHA:171876
HP:0008872	Feeding difficulties in infancy	90522	YIF1B	OMIM:619125
HP:0008872	Feeding difficulties in infancy	51305	KCNK9	OMIM:612292
HP:0008872	Feeding difficulties in infancy	2316	FLNA	OMIM:300048
HP:0008872	Feeding difficulties in infancy	9326	ZNHIT3	OMIM:260565
HP:0008872	Feeding difficulties in infancy	83737	ITCH	OMIM:613385
HP:0008872	Feeding difficulties in infancy	90416	CCDC32	OMIM:619123
HP:0008872	Feeding difficulties in infancy	1806	DPYD	ORPHA:1675
HP:0008872	Feeding difficulties in infancy	4976	OPA1	OMIM:616896
HP:0008872	Feeding difficulties in infancy	1277	COL1A1	ORPHA:1310
HP:0008872	Feeding difficulties in infancy	5500	PPP1CB	OMIM:617506
HP:0008872	Feeding difficulties in infancy	1180	CLCN1	ORPHA:614
HP:0008872	Feeding difficulties in infancy	8292	COLQ	OMIM:603034
HP:0008872	Feeding difficulties in infancy	617	BCS1L	OMIM:124000
HP:0008872	Feeding difficulties in infancy	55252	ASXL2	OMIM:617190
HP:0008872	Feeding difficulties in infancy	1376	CPT2	OMIM:608836
HP:0008872	Feeding difficulties in infancy	5879	RAC1	OMIM:617751
HP:0008872	Feeding difficulties in infancy	5879	RAC1	ORPHA:500159
HP:0008872	Feeding difficulties in infancy	10479	SLC9A6	ORPHA:85278
HP:0008872	Feeding difficulties in infancy	2193	FARSA	OMIM:619013
HP:0008872	Feeding difficulties in infancy	1984	EIF5A	OMIM:619376
HP:0008872	Feeding difficulties in infancy	51780	KDM3B	OMIM:618846
HP:0008872	Feeding difficulties in infancy	4724	NDUFS4	OMIM:252010
HP:0008872	Feeding difficulties in infancy	2806	GOT2	OMIM:618721
HP:0008872	Feeding difficulties in infancy	284058	KANSL1	OMIM:610443
HP:0008872	Feeding difficulties in infancy	3295	HSD17B4	OMIM:261515
HP:0008872	Feeding difficulties in infancy	867	CBL	ORPHA:648
HP:0008872	Feeding difficulties in infancy	8216	LZTR1	ORPHA:648
HP:0008872	Feeding difficulties in infancy	6016	RIT1	ORPHA:648
HP:0008872	Feeding difficulties in infancy	6237	RRAS	ORPHA:648
HP:0008872	Feeding difficulties in infancy	5894	RAF1	ORPHA:648
HP:0008872	Feeding difficulties in infancy	200734	SPRED2	ORPHA:648
HP:0008872	Feeding difficulties in infancy	4893	NRAS	ORPHA:648
HP:0008872	Feeding difficulties in infancy	6654	SOS1	ORPHA:648
HP:0008872	Feeding difficulties in infancy	6655	SOS2	ORPHA:648
HP:0008872	Feeding difficulties in infancy	5781	PTPN11	ORPHA:648
HP:0008872	Feeding difficulties in infancy	5781	PTPN11	OMIM:163950
HP:0008872	Feeding difficulties in infancy	5922	RASA2	ORPHA:648
HP:0008872	Feeding difficulties in infancy	4848	CNOT2	OMIM:618608
HP:0008872	Feeding difficulties in infancy	79583	TMEM231	ORPHA:2754
HP:0008872	Feeding difficulties in infancy	10210	TOPORS	ORPHA:2754
HP:0008872	Feeding difficulties in infancy	51259	TMEM216	ORPHA:2754
HP:0008872	Feeding difficulties in infancy	317662	FAM149B1	ORPHA:2754
HP:0008872	Feeding difficulties in infancy	374654	KIF7	ORPHA:2754
HP:0008872	Feeding difficulties in infancy	9897	WASHC5	ORPHA:7
HP:0008872	Feeding difficulties in infancy	28952	CCDC22	ORPHA:7
HP:0008872	Feeding difficulties in infancy	57020	VPS35L	ORPHA:7
HP:0008872	Feeding difficulties in infancy	56896	DPYSL5	ORPHA:7
HP:0008872	Feeding difficulties in infancy	23040	MYT1L	ORPHA:647799
HP:0008872	Feeding difficulties in infancy	3908	LAMA2	OMIM:607855
HP:0008872	Feeding difficulties in infancy	29928	TIMM22	OMIM:618851
HP:0008872	Feeding difficulties in infancy	8803	SUCLA2	OMIM:612073
HP:0008872	Feeding difficulties in infancy	2036	EPB41L1	OMIM:614257
HP:0008872	Feeding difficulties in infancy	4281	MID1	ORPHA:2745
HP:0008872	Feeding difficulties in infancy	84148	KAT8	OMIM:618974
HP:0008872	Feeding difficulties in infancy	87178	PNPT1	OMIM:614932
HP:0008872	Feeding difficulties in infancy	57194	ATP10A	ORPHA:411515
HP:0008872	Feeding difficulties in infancy	5052	PRDX1	OMIM:277400
HP:0008872	Feeding difficulties in infancy	25974	MMACHC	OMIM:277400
HP:0008872	Feeding difficulties in infancy	8085	KMT2D	OMIM:147920
HP:0008872	Feeding difficulties in infancy	84617	TUBB6	OMIM:617732
HP:0008872	Feeding difficulties in infancy	7156	TOP3A	OMIM:618098
HP:0008872	Feeding difficulties in infancy	80267	EDEM3	OMIM:619493
HP:0008872	Feeding difficulties in infancy	1351	COX8A	OMIM:619059
HP:0008872	Feeding difficulties in infancy	10664	CTCF	ORPHA:363611
HP:0008872	Feeding difficulties in infancy	10846	PDE10A	ORPHA:494526
HP:0008872	Feeding difficulties in infancy	8218	CLTCL1	ORPHA:453510
HP:0008872	Feeding difficulties in infancy	51604	PIGT	ORPHA:369837
HP:0008872	Feeding difficulties in infancy	285175	UNC80	ORPHA:371364
HP:0008872	Feeding difficulties in infancy	2581	GALC	ORPHA:206436
HP:0008872	Feeding difficulties in infancy	93986	FOXP2	ORPHA:251061
HP:0008872	Feeding difficulties in infancy	57190	SELENON	ORPHA:2020
HP:0008872	Feeding difficulties in infancy	4633	MYL2	ORPHA:2020
HP:0008872	Feeding difficulties in infancy	3679	ITGA7	ORPHA:2020
HP:0008872	Feeding difficulties in infancy	9200	HACD1	ORPHA:2020
HP:0008872	Feeding difficulties in infancy	7170	TPM3	ORPHA:2020
HP:0008872	Feeding difficulties in infancy	51776	MAP3K20	ORPHA:2020
HP:0008872	Feeding difficulties in infancy	84706	GPT2	ORPHA:477673
HP:0008872	Feeding difficulties in infancy	10342	TFG	ORPHA:90117
HP:0008872	Feeding difficulties in infancy	10059	DNM1L	ORPHA:330050
HP:0008872	Feeding difficulties in infancy	23394	ADNP	ORPHA:404448
HP:0008872	Feeding difficulties in infancy	91574	MTRFR	ORPHA:254930
HP:0008872	Feeding difficulties in infancy	10466	COG5	ORPHA:263487
HP:0008872	Feeding difficulties in infancy	26005	C2CD3	ORPHA:434179
HP:0008872	Feeding difficulties in infancy	1861	TOR1A	OMIM:618947
HP:0008872	Feeding difficulties in infancy	4897	NRCAM	OMIM:619833
HP:0008872	Feeding difficulties in infancy	6323	SCN1A	OMIM:619317
HP:0008872	Feeding difficulties in infancy	6328	SCN3A	OMIM:617938
HP:0008872	Feeding difficulties in infancy	23345	SYNE1	ORPHA:319332
HP:0008872	Feeding difficulties in infancy	10128	LRPPRC	ORPHA:70472
HP:0008872	Feeding difficulties in infancy	7343	UBTF	ORPHA:500180
HP:0008872	Feeding difficulties in infancy	128869	PIGU	OMIM:618590
HP:0008872	Feeding difficulties in infancy	27125	AFF4	ORPHA:444077
HP:0008872	Feeding difficulties in infancy	4247	MGAT2	ORPHA:79329
HP:0008872	Feeding difficulties in infancy	283446	MYO1H	OMIM:619482
HP:0008872	Feeding difficulties in infancy	5631	PRPS1	ORPHA:423479
HP:0008872	Feeding difficulties in infancy	2521	FUS	ORPHA:300605
HP:0008872	Feeding difficulties in infancy	80208	SPG11	ORPHA:300605
HP:0008872	Feeding difficulties in infancy	10280	SIGMAR1	ORPHA:300605
HP:0008872	Feeding difficulties in infancy	10558	SPTLC1	ORPHA:300605
HP:0008872	Feeding difficulties in infancy	57679	ALS2	ORPHA:300605
HP:0008872	Feeding difficulties in infancy	51112	TRAPPC12	ORPHA:500144
HP:0008872	Feeding difficulties in infancy	2222	FDFT1	OMIM:618156
HP:0008872	Feeding difficulties in infancy	253959	RALGAPA1	OMIM:618797
HP:0008872	Feeding difficulties in infancy	1294	COL7A1	ORPHA:89842
HP:0008872	Feeding difficulties in infancy	7358	UGDH	OMIM:618792
HP:0008872	Feeding difficulties in infancy	80055	PGAP1	OMIM:615802
HP:0008872	Feeding difficulties in infancy	55152	DALRD3	OMIM:618910
HP:0008872	Feeding difficulties in infancy	9338	TCEAL1	OMIM:301094
HP:0008872	Feeding difficulties in infancy	79158	GNPTAB	ORPHA:576
HP:0008872	Feeding difficulties in infancy	1185	CLCN6	OMIM:619173
HP:0008872	Feeding difficulties in infancy	84992	PIGY	ORPHA:247262
HP:0008872	Feeding difficulties in infancy	84720	PIGO	ORPHA:247262
HP:0008872	Feeding difficulties in infancy	93210	PGAP3	ORPHA:247262
HP:0008872	Feeding difficulties in infancy	284098	PIGW	ORPHA:247262
HP:0008872	Feeding difficulties in infancy	27315	PGAP2	ORPHA:247262
HP:0008872	Feeding difficulties in infancy	55650	PIGV	ORPHA:247262
HP:0008872	Feeding difficulties in infancy	9487	PIGL	ORPHA:247262
HP:0008872	Feeding difficulties in infancy	25885	POLR1A	OMIM:616462
HP:0008872	Feeding difficulties in infancy	166378	AFG2A	ORPHA:457351
HP:0008872	Feeding difficulties in infancy	93627	TBCK	OMIM:616900
HP:0008872	Feeding difficulties in infancy	8560	DEGS1	OMIM:618404
HP:0008872	Feeding difficulties in infancy	819	CAMLG	OMIM:620201
HP:0008872	Feeding difficulties in infancy	2055	CLN8	ORPHA:1947
HP:0008872	Feeding difficulties in infancy	9361	LONP1	ORPHA:79243
HP:0008872	Feeding difficulties in infancy	5160	PDHA1	ORPHA:79243
HP:0008872	Feeding difficulties in infancy	8813	DPM1	ORPHA:79322
HP:0008872	Feeding difficulties in infancy	6509	SLC1A4	ORPHA:447997
HP:0008872	Feeding difficulties in infancy	641	BLM	ORPHA:125
HP:0008872	Feeding difficulties in infancy	8884	SLC5A6	OMIM:618973
HP:0008872	Feeding difficulties in infancy	131377	KLHL40	OMIM:615348
HP:0008872	Feeding difficulties in infancy	5518	PPP2R1A	ORPHA:457284
HP:0008872	Feeding difficulties in infancy	3852	KRT5	ORPHA:79396
HP:0008872	Feeding difficulties in infancy	3861	KRT14	ORPHA:79396
HP:0008872	Feeding difficulties in infancy	9325	TRIP4	ORPHA:486815
HP:0008872	Feeding difficulties in infancy	26040	SETBP1	ORPHA:798
HP:0008872	Feeding difficulties in infancy	2019	EN1	OMIM:619218
HP:0008872	Feeding difficulties in infancy	25828	TXN2	ORPHA:478029
HP:0008872	Feeding difficulties in infancy	126792	B3GALT6	OMIM:609465
HP:0008915	Childhood-onset truncal obesity	5122	PCSK1	ORPHA:71528
HP:0008915	Childhood-onset truncal obesity	4160	MC4R	ORPHA:71529
HP:0008915	Childhood-onset truncal obesity	56623	INPP5E	OMIM:610156
HP:0008915	Childhood-onset truncal obesity	92482	BBIP1	ORPHA:110
HP:0008915	Childhood-onset truncal obesity	80184	CEP290	ORPHA:110
HP:0008915	Childhood-onset truncal obesity	11020	IFT27	ORPHA:110
HP:0008915	Childhood-onset truncal obesity	582	BBS1	ORPHA:110
HP:0008915	Childhood-onset truncal obesity	49855	SCAPER	ORPHA:110
HP:0008915	Childhood-onset truncal obesity	4867	NPHP1	ORPHA:110
HP:0008915	Childhood-onset truncal obesity	51057	WDPCP	ORPHA:110
HP:0008915	Childhood-onset truncal obesity	132320	SCLT1	ORPHA:110
HP:0008915	Childhood-onset truncal obesity	27241	BBS9	ORPHA:110
HP:0008915	Childhood-onset truncal obesity	84984	CEP19	ORPHA:110
HP:0008915	Childhood-onset truncal obesity	22954	TRIM32	ORPHA:110
HP:0008915	Childhood-onset truncal obesity	54903	MKS1	ORPHA:110
HP:0008915	Childhood-onset truncal obesity	79738	BBS10	ORPHA:110
HP:0008915	Childhood-onset truncal obesity	123016	TTC8	ORPHA:110
HP:0008915	Childhood-onset truncal obesity	26160	IFT172	ORPHA:110
HP:0008915	Childhood-onset truncal obesity	583	BBS2	ORPHA:110
HP:0008915	Childhood-onset truncal obesity	585	BBS4	ORPHA:110
HP:0008915	Childhood-onset truncal obesity	8195	MKKS	ORPHA:110
HP:0008915	Childhood-onset truncal obesity	54585	LZTFL1	ORPHA:110
HP:0008915	Childhood-onset truncal obesity	55212	BBS7	ORPHA:110
HP:0008915	Childhood-onset truncal obesity	166379	BBS12	ORPHA:110
HP:0008915	Childhood-onset truncal obesity	10806	SDCCAG8	ORPHA:110
HP:0008915	Childhood-onset truncal obesity	157657	CFAP418	ORPHA:110
HP:0008915	Childhood-onset truncal obesity	84100	ARL6	ORPHA:110
HP:0008915	Childhood-onset truncal obesity	129880	BBS5	ORPHA:110
HP:0008915	Childhood-onset truncal obesity	80173	IFT74	ORPHA:110
HP:0008915	Childhood-onset truncal obesity	5443	POMC	ORPHA:71526
HP:0008915	Childhood-onset truncal obesity	157680	VPS13B	OMIM:216550
HP:0001525	Severe failure to thrive	9896	FIG4	OMIM:216340
HP:0001525	Severe failure to thrive	9896	FIG4	ORPHA:3472
HP:0001525	Severe failure to thrive	57061	HYMAI	OMIM:601410
HP:0001525	Severe failure to thrive	346171	ZFP57	OMIM:601410
HP:0001525	Severe failure to thrive	2074	ERCC6	OMIM:133540
HP:0001525	Severe failure to thrive	4000	LMNA	ORPHA:740
HP:0001525	Severe failure to thrive	10269	ZMPSTE24	ORPHA:740
HP:0001525	Severe failure to thrive	5631	PRPS1	ORPHA:423479
HP:0001525	Severe failure to thrive	7809	BSND	ORPHA:89938
HP:0001525	Severe failure to thrive	1188	CLCNKB	ORPHA:89938
HP:0001525	Severe failure to thrive	1187	CLCNKA	ORPHA:89938
HP:0001525	Severe failure to thrive	171023	ASXL1	ORPHA:97297
HP:0001525	Severe failure to thrive	55697	VAC14	ORPHA:3472
HP:0001525	Severe failure to thrive	55835	CPAP	OMIM:613676
HP:0001525	Severe failure to thrive	259232	NALCN	ORPHA:371364
HP:0001525	Severe failure to thrive	285175	UNC80	ORPHA:371364
HP:0001525	Severe failure to thrive	25914	RTTN	ORPHA:468631
HP:0001525	Severe failure to thrive	5191	PEX7	OMIM:215100
HP:0003502	Mild short stature	9203	ZMYM3	OMIM:301111
HP:0003502	Mild short stature	26523	AGO1	OMIM:620292
HP:0003502	Mild short stature	1795	DOCK3	OMIM:618292
HP:0003502	Mild short stature	7703	PCGF2	OMIM:618371
HP:0003502	Mild short stature	6595	SMARCA2	OMIM:601358
HP:0003502	Mild short stature	1298	COL9A2	OMIM:600204
HP:0003502	Mild short stature	2245	FGD1	OMIM:305400
HP:0003502	Mild short stature	1277	COL1A1	OMIM:130060
HP:0003502	Mild short stature	50515	CHST11	OMIM:618167
HP:0003502	Mild short stature	1300	COL10A1	OMIM:156500
HP:0003502	Mild short stature	818	CAMK2G	OMIM:618522
HP:0003502	Mild short stature	3423	IDS	OMIM:309900
HP:0003502	Mild short stature	1311	COMP	OMIM:132400
HP:0003502	Mild short stature	1299	COL9A3	OMIM:600969
HP:0003502	Mild short stature	5144	PDE4D	OMIM:614613
HP:0003502	Mild short stature	132884	EVC2	OMIM:193530
HP:0003502	Mild short stature	132884	EVC2	ORPHA:952
HP:0003502	Mild short stature	2121	EVC	OMIM:193530
HP:0003502	Mild short stature	2121	EVC	ORPHA:952
HP:0003502	Mild short stature	25914	RTTN	OMIM:614833
HP:0003502	Mild short stature	3930	LBR	OMIM:169400
HP:0003502	Mild short stature	3930	LBR	OMIM:618019
HP:0003502	Mild short stature	124583	CANT1	OMIM:617719
HP:0003502	Mild short stature	4148	MATN3	ORPHA:93311
HP:0005609	Gallbladder dysfunction	410	ARSA	OMIM:250100
HP:0005608	Bilobate gallbladder	145173	B3GLCT	OMIM:261540
HP:0005608	Bilobate gallbladder	6309	SC5D	OMIM:607330
HP:0005607	Abnormal tracheobronchial morphology	374407	DNAJB13	OMIM:617091
HP:0005607	Abnormal tracheobronchial morphology	374407	DNAJB13	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	139212	DNAAF6	OMIM:300991
HP:0005607	Abnormal tracheobronchial morphology	139212	DNAAF6	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	85016	CFAP300	OMIM:618063
HP:0005607	Abnormal tracheobronchial morphology	85016	CFAP300	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	83538	ODAD4	OMIM:617092
HP:0005607	Abnormal tracheobronchial morphology	83538	ODAD4	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	4791	NFKB2	ORPHA:293978
HP:0005607	Abnormal tracheobronchial morphology	4791	NFKB2	ORPHA:1572
HP:0005607	Abnormal tracheobronchial morphology	695	BTK	OMIM:300755
HP:0005607	Abnormal tracheobronchial morphology	3071	NCKAP1L	OMIM:618982
HP:0005607	Abnormal tracheobronchial morphology	1493	CTLA4	ORPHA:436159
HP:0005607	Abnormal tracheobronchial morphology	1493	CTLA4	OMIM:616100
HP:0005607	Abnormal tracheobronchial morphology	5993	RFX5	OMIM:620816
HP:0005607	Abnormal tracheobronchial morphology	4683	NBN	OMIM:251260
HP:0005607	Abnormal tracheobronchial morphology	10309	CCNO	OMIM:615872
HP:0005607	Abnormal tracheobronchial morphology	10309	CCNO	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	2622	GAS8	OMIM:616726
HP:0005607	Abnormal tracheobronchial morphology	2622	GAS8	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	5238	PGM3	ORPHA:443811
HP:0005607	Abnormal tracheobronchial morphology	5238	PGM3	OMIM:615816
HP:0005607	Abnormal tracheobronchial morphology	1080	CFTR	OMIM:211400
HP:0005607	Abnormal tracheobronchial morphology	1080	CFTR	OMIM:219700
HP:0005607	Abnormal tracheobronchial morphology	1080	CFTR	ORPHA:60033
HP:0005607	Abnormal tracheobronchial morphology	1080	CFTR	ORPHA:586
HP:0005607	Abnormal tracheobronchial morphology	6338	SCNN1B	OMIM:211400
HP:0005607	Abnormal tracheobronchial morphology	6338	SCNN1B	ORPHA:60033
HP:0005607	Abnormal tracheobronchial morphology	27148	STK36	OMIM:619436
HP:0005607	Abnormal tracheobronchial morphology	27148	STK36	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	5880	RAC2	OMIM:618986
HP:0005607	Abnormal tracheobronchial morphology	5293	PIK3CD	OMIM:615513
HP:0005607	Abnormal tracheobronchial morphology	5293	PIK3CD	ORPHA:397596
HP:0005607	Abnormal tracheobronchial morphology	987	LRBA	OMIM:614700
HP:0005607	Abnormal tracheobronchial morphology	8737	RIPK1	OMIM:618108
HP:0005607	Abnormal tracheobronchial morphology	6890	TAP1	OMIM:604571
HP:0005607	Abnormal tracheobronchial morphology	345895	RSPH4A	OMIM:612649
HP:0005607	Abnormal tracheobronchial morphology	345895	RSPH4A	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	9094	UNC119	OMIM:615518
HP:0005607	Abnormal tracheobronchial morphology	1729	DIAPH1	ORPHA:477814
HP:0005607	Abnormal tracheobronchial morphology	1729	DIAPH1	OMIM:616632
HP:0005607	Abnormal tracheobronchial morphology	54768	HYDIN	OMIM:608647
HP:0005607	Abnormal tracheobronchial morphology	54768	HYDIN	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	89765	RSPH1	OMIM:615481
HP:0005607	Abnormal tracheobronchial morphology	89765	RSPH1	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	161582	DNAAF4	OMIM:615482
HP:0005607	Abnormal tracheobronchial morphology	161582	DNAAF4	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	6809	STX3	OMIM:619445
HP:0005607	Abnormal tracheobronchial morphology	6809	STX3	OMIM:619446
HP:0005607	Abnormal tracheobronchial morphology	9948	WDR1	OMIM:150550
HP:0005607	Abnormal tracheobronchial morphology	221421	RSPH9	OMIM:612650
HP:0005607	Abnormal tracheobronchial morphology	221421	RSPH9	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	5424	POLD1	OMIM:620836
HP:0005607	Abnormal tracheobronchial morphology	54014	BRWD1	OMIM:620438
HP:0005607	Abnormal tracheobronchial morphology	4790	NFKB1	OMIM:616576
HP:0005607	Abnormal tracheobronchial morphology	4790	NFKB1	ORPHA:1572
HP:0005607	Abnormal tracheobronchial morphology	472	ATM	OMIM:208900
HP:0005607	Abnormal tracheobronchial morphology	388389	DNAAF19	OMIM:614679
HP:0005607	Abnormal tracheobronchial morphology	1767	DNAH5	OMIM:608644
HP:0005607	Abnormal tracheobronchial morphology	1767	DNAH5	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	8382	NME5	OMIM:620032
HP:0005607	Abnormal tracheobronchial morphology	8382	NME5	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	6440	SFTPC	OMIM:610913
HP:0005607	Abnormal tracheobronchial morphology	6440	SFTPC	ORPHA:2032
HP:0005607	Abnormal tracheobronchial morphology	3604	TNFRSF9	OMIM:620282
HP:0005607	Abnormal tracheobronchial morphology	2212	FCGR2A	OMIM:219700
HP:0005607	Abnormal tracheobronchial morphology	7040	TGFB1	OMIM:219700
HP:0005607	Abnormal tracheobronchial morphology	7040	TGFB1	ORPHA:586
HP:0005607	Abnormal tracheobronchial morphology	6340	SCNN1G	OMIM:613071
HP:0005607	Abnormal tracheobronchial morphology	6340	SCNN1G	ORPHA:60033
HP:0005607	Abnormal tracheobronchial morphology	6772	STAT1	OMIM:614162
HP:0005607	Abnormal tracheobronchial morphology	6772	STAT1	ORPHA:391487
HP:0005607	Abnormal tracheobronchial morphology	115650	TNFRSF13C	OMIM:240500
HP:0005607	Abnormal tracheobronchial morphology	115650	TNFRSF13C	ORPHA:1572
HP:0005607	Abnormal tracheobronchial morphology	29851	ICOS	OMIM:240500
HP:0005607	Abnormal tracheobronchial morphology	29851	ICOS	ORPHA:1572
HP:0005607	Abnormal tracheobronchial morphology	29851	ICOS	OMIM:607594
HP:0005607	Abnormal tracheobronchial morphology	930	CD19	OMIM:240500
HP:0005607	Abnormal tracheobronchial morphology	930	CD19	ORPHA:1572
HP:0005607	Abnormal tracheobronchial morphology	23495	TNFRSF13B	OMIM:240500
HP:0005607	Abnormal tracheobronchial morphology	23495	TNFRSF13B	ORPHA:1572
HP:0005607	Abnormal tracheobronchial morphology	1380	CR2	OMIM:240500
HP:0005607	Abnormal tracheobronchial morphology	1380	CR2	ORPHA:1572
HP:0005607	Abnormal tracheobronchial morphology	84061	MAGT1	OMIM:300853
HP:0005607	Abnormal tracheobronchial morphology	123872	DNAAF1	OMIM:613193
HP:0005607	Abnormal tracheobronchial morphology	123872	DNAAF1	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	54453	RIN2	OMIM:613075
HP:0005607	Abnormal tracheobronchial morphology	3394	IRF8	OMIM:226990
HP:0005607	Abnormal tracheobronchial morphology	6774	STAT3	ORPHA:2314
HP:0005607	Abnormal tracheobronchial morphology	10379	IRF9	OMIM:618648
HP:0005607	Abnormal tracheobronchial morphology	7852	CXCR4	OMIM:193670
HP:0005607	Abnormal tracheobronchial morphology	7852	CXCR4	ORPHA:51636
HP:0005607	Abnormal tracheobronchial morphology	56244	BTNL2	OMIM:612387
HP:0005607	Abnormal tracheobronchial morphology	56244	BTNL2	ORPHA:797
HP:0005607	Abnormal tracheobronchial morphology	3572	IL6ST	OMIM:618523
HP:0005607	Abnormal tracheobronchial morphology	3572	IL6ST	OMIM:619752
HP:0005607	Abnormal tracheobronchial morphology	5426	POLE	OMIM:615139
HP:0005607	Abnormal tracheobronchial morphology	54970	TTC12	OMIM:618801
HP:0005607	Abnormal tracheobronchial morphology	54970	TTC12	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	729238	SFTPA2	ORPHA:2032
HP:0005607	Abnormal tracheobronchial morphology	79991	STN1	ORPHA:2032
HP:0005607	Abnormal tracheobronchial morphology	653509	SFTPA1	ORPHA:2032
HP:0005607	Abnormal tracheobronchial morphology	21	ABCA3	ORPHA:2032
HP:0005607	Abnormal tracheobronchial morphology	1832	DSP	ORPHA:2032
HP:0005607	Abnormal tracheobronchial morphology	727897	MUC5B	ORPHA:2032
HP:0005607	Abnormal tracheobronchial morphology	10144	FAM13A	ORPHA:2032
HP:0005607	Abnormal tracheobronchial morphology	23250	ATP11A	ORPHA:2032
HP:0005607	Abnormal tracheobronchial morphology	91039	DPP9	ORPHA:2032
HP:0005607	Abnormal tracheobronchial morphology	713	C1QB	OMIM:620321
HP:0005607	Abnormal tracheobronchial morphology	219972	MPEG1	OMIM:619223
HP:0005607	Abnormal tracheobronchial morphology	567	B2M	OMIM:241600
HP:0005607	Abnormal tracheobronchial morphology	7161	TP73	OMIM:619466
HP:0005607	Abnormal tracheobronchial morphology	254428	SLC41A1	OMIM:619468
HP:0005607	Abnormal tracheobronchial morphology	7174	TPP2	OMIM:619220
HP:0005607	Abnormal tracheobronchial morphology	146206	CARMIL2	OMIM:618131
HP:0005607	Abnormal tracheobronchial morphology	4700	NDUFA6	OMIM:618253
HP:0005607	Abnormal tracheobronchial morphology	115399	LRRC56	OMIM:618254
HP:0005607	Abnormal tracheobronchial morphology	115399	LRRC56	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	10125	RASGRP1	OMIM:618534
HP:0005607	Abnormal tracheobronchial morphology	8742	TNFSF12	ORPHA:1572
HP:0005607	Abnormal tracheobronchial morphology	931	MS4A1	ORPHA:1572
HP:0005607	Abnormal tracheobronchial morphology	975	CD81	ORPHA:1572
HP:0005607	Abnormal tracheobronchial morphology	359948	IRF2BP2	ORPHA:1572
HP:0005607	Abnormal tracheobronchial morphology	3123	HLA-DRB1	ORPHA:797
HP:0005607	Abnormal tracheobronchial morphology	3123	HLA-DRB1	OMIM:181000
HP:0005607	Abnormal tracheobronchial morphology	55036	CCDC40	OMIM:613808
HP:0005607	Abnormal tracheobronchial morphology	55036	CCDC40	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	339829	CCDC39	OMIM:613807
HP:0005607	Abnormal tracheobronchial morphology	339829	CCDC39	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	27019	DNAI1	OMIM:244400
HP:0005607	Abnormal tracheobronchial morphology	27019	DNAI1	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	1789	DNMT3B	OMIM:242860
HP:0005607	Abnormal tracheobronchial morphology	83861	RSPH3	OMIM:616481
HP:0005607	Abnormal tracheobronchial morphology	83861	RSPH3	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	29775	CARD10	OMIM:619632
HP:0005607	Abnormal tracheobronchial morphology	5265	SERPINA1	OMIM:613490
HP:0005607	Abnormal tracheobronchial morphology	5265	SERPINA1	ORPHA:60
HP:0005607	Abnormal tracheobronchial morphology	5265	SERPINA1	ORPHA:586
HP:0005607	Abnormal tracheobronchial morphology	152110	NEK10	OMIM:618781
HP:0005607	Abnormal tracheobronchial morphology	152110	NEK10	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	6337	SCNN1A	ORPHA:60033
HP:0005607	Abnormal tracheobronchial morphology	6337	SCNN1A	OMIM:613021
HP:0005607	Abnormal tracheobronchial morphology	23568	ARL2BP	OMIM:615434
HP:0005607	Abnormal tracheobronchial morphology	5295	PIK3R1	OMIM:616005
HP:0005607	Abnormal tracheobronchial morphology	5295	PIK3R1	ORPHA:397596
HP:0005607	Abnormal tracheobronchial morphology	5295	PIK3R1	ORPHA:33110
HP:0005607	Abnormal tracheobronchial morphology	25981	DNAH1	OMIM:617577
HP:0005607	Abnormal tracheobronchial morphology	25981	DNAH1	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	64446	DNAI2	OMIM:612444
HP:0005607	Abnormal tracheobronchial morphology	64446	DNAI2	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	54440	SASH3	OMIM:301082
HP:0005607	Abnormal tracheobronchial morphology	6789	STK4	OMIM:614868
HP:0005607	Abnormal tracheobronchial morphology	55719	SLF2	OMIM:620184
HP:0005607	Abnormal tracheobronchial morphology	3507	IGHM	OMIM:601495
HP:0005607	Abnormal tracheobronchial morphology	3507	IGHM	ORPHA:33110
HP:0005607	Abnormal tracheobronchial morphology	2947	GSTM3	ORPHA:586
HP:0005607	Abnormal tracheobronchial morphology	2729	GCLC	ORPHA:586
HP:0005607	Abnormal tracheobronchial morphology	1084	CEACAM3	ORPHA:586
HP:0005607	Abnormal tracheobronchial morphology	6556	SLC11A1	ORPHA:586
HP:0005607	Abnormal tracheobronchial morphology	51164	DCTN4	ORPHA:586
HP:0005607	Abnormal tracheobronchial morphology	3783	KCNN4	ORPHA:586
HP:0005607	Abnormal tracheobronchial morphology	4282	MIF	ORPHA:586
HP:0005607	Abnormal tracheobronchial morphology	1909	EDNRA	ORPHA:586
HP:0005607	Abnormal tracheobronchial morphology	6550	SLC9A3	ORPHA:586
HP:0005607	Abnormal tracheobronchial morphology	3162	HMOX1	ORPHA:586
HP:0005607	Abnormal tracheobronchial morphology	115019	SLC26A9	ORPHA:586
HP:0005607	Abnormal tracheobronchial morphology	3077	HFE	ORPHA:586
HP:0005607	Abnormal tracheobronchial morphology	11254	SLC6A14	ORPHA:586
HP:0005607	Abnormal tracheobronchial morphology	22802	CLCA4	ORPHA:586
HP:0005607	Abnormal tracheobronchial morphology	4680	CEACAM6	ORPHA:586
HP:0005607	Abnormal tracheobronchial morphology	54790	TET2	OMIM:619126
HP:0005607	Abnormal tracheobronchial morphology	5728	PTEN	ORPHA:397596
HP:0005607	Abnormal tracheobronchial morphology	60468	BACH2	OMIM:618394
HP:0005607	Abnormal tracheobronchial morphology	641	BLM	OMIM:210900
HP:0005607	Abnormal tracheobronchial morphology	51364	ZMYND10	OMIM:615444
HP:0005607	Abnormal tracheobronchial morphology	51364	ZMYND10	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	50615	IL21R	OMIM:615207
HP:0005607	Abnormal tracheobronchial morphology	8701	DNAH11	OMIM:611884
HP:0005607	Abnormal tracheobronchial morphology	8701	DNAH11	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	10551	AGR2	OMIM:620233
HP:0005607	Abnormal tracheobronchial morphology	85452	CFAP74	OMIM:620197
HP:0005607	Abnormal tracheobronchial morphology	85452	CFAP74	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	925	CD8A	OMIM:608957
HP:0005607	Abnormal tracheobronchial morphology	84905	ZNF341	OMIM:618282
HP:0005607	Abnormal tracheobronchial morphology	11117	EMILIN1	OMIM:620080
HP:0005607	Abnormal tracheobronchial morphology	92749	DRC1	OMIM:615294
HP:0005607	Abnormal tracheobronchial morphology	92749	DRC1	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	55130	ODAD2	OMIM:615451
HP:0005607	Abnormal tracheobronchial morphology	55130	ODAD2	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	27040	LAT	OMIM:617514
HP:0005607	Abnormal tracheobronchial morphology	10516	FBLN5	ORPHA:90348
HP:0005607	Abnormal tracheobronchial morphology	5832	ALDH18A1	ORPHA:90348
HP:0005607	Abnormal tracheobronchial morphology	84433	CARD11	OMIM:617638
HP:0005607	Abnormal tracheobronchial morphology	246176	GAS2L2	OMIM:618449
HP:0005607	Abnormal tracheobronchial morphology	246176	GAS2L2	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	3514	IGKC	ORPHA:183675
HP:0005607	Abnormal tracheobronchial morphology	3501	IGHG2	ORPHA:183675
HP:0005607	Abnormal tracheobronchial morphology	115948	ODAD3	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	115948	ODAD3	OMIM:616037
HP:0005607	Abnormal tracheobronchial morphology	352909	DNAAF3	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	352909	DNAAF3	OMIM:606763
HP:0005607	Abnormal tracheobronchial morphology	51314	NME8	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	8481	OFD1	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	2302	FOXJ1	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	2302	FOXJ1	OMIM:618699
HP:0005607	Abnormal tracheobronchial morphology	85478	CCDC65	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	85478	CCDC65	OMIM:615504
HP:0005607	Abnormal tracheobronchial morphology	6674	SPAG1	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	6674	SPAG1	OMIM:615505
HP:0005607	Abnormal tracheobronchial morphology	83544	DNAL1	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	83544	DNAL1	OMIM:614017
HP:0005607	Abnormal tracheobronchial morphology	200373	CFAP221	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	55172	DNAAF2	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	23639	DNAAF11	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	23639	DNAAF11	OMIM:614935
HP:0005607	Abnormal tracheobronchial morphology	54919	DNAAF5	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	6103	RPGR	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	93233	ODAD1	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	93233	ODAD1	OMIM:615067
HP:0005607	Abnormal tracheobronchial morphology	345643	MCIDAS	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	345643	MCIDAS	OMIM:618695
HP:0005607	Abnormal tracheobronchial morphology	56683	CFAP298	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	56683	CFAP298	OMIM:615500
HP:0005607	Abnormal tracheobronchial morphology	79925	SPEF2	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	1770	DNAH9	ORPHA:244
HP:0005607	Abnormal tracheobronchial morphology	6850	SYK	OMIM:619381
HP:0005607	Abnormal tracheobronchial morphology	81704	DOCK8	OMIM:243700
HP:0005607	Abnormal tracheobronchial morphology	10568	SLC34A2	ORPHA:60025
HP:0005607	Abnormal tracheobronchial morphology	10892	MALT1	OMIM:615468
HP:0005607	Abnormal tracheobronchial morphology	96459	FNIP1	OMIM:619705
HP:0005607	Abnormal tracheobronchial morphology	6891	TAP2	OMIM:620813
HP:0005607	Abnormal tracheobronchial morphology	55315	SLC29A3	ORPHA:168569
HP:0005607	Abnormal tracheobronchial morphology	9138	ARHGEF1	OMIM:618459
HP:0005607	Abnormal tracheobronchial morphology	5297	PI4KA	OMIM:619708
HP:0005607	Abnormal tracheobronchial morphology	6929	TCF3	ORPHA:33110
HP:0005607	Abnormal tracheobronchial morphology	7922	SLC39A7	ORPHA:33110
HP:0005607	Abnormal tracheobronchial morphology	973	CD79A	ORPHA:33110
HP:0005607	Abnormal tracheobronchial morphology	974	CD79B	ORPHA:33110
HP:0005607	Abnormal tracheobronchial morphology	6688	SPI1	ORPHA:33110
HP:0005607	Abnormal tracheobronchial morphology	3543	IGLL1	ORPHA:33110
HP:0005607	Abnormal tracheobronchial morphology	29760	BLNK	ORPHA:33110
HP:0005607	Abnormal tracheobronchial morphology	56262	LRRC8A	ORPHA:33110
HP:0005607	Abnormal tracheobronchial morphology	2294	FOXF1	OMIM:265380
HP:0005607	Abnormal tracheobronchial morphology	2294	FOXF1	ORPHA:210122
HP:0005607	Abnormal tracheobronchial morphology	2187	FANCB	OMIM:300514
HP:0005607	Abnormal tracheobronchial morphology	2187	FANCB	OMIM:314390
HP:0005607	Abnormal tracheobronchial morphology	2187	FANCB	ORPHA:3412
HP:0005607	Abnormal tracheobronchial morphology	2187	FANCB	ORPHA:84
HP:0005607	Abnormal tracheobronchial morphology	10054	UBA2	OMIM:619959
HP:0005607	Abnormal tracheobronchial morphology	6804	STX1A	ORPHA:904
HP:0005607	Abnormal tracheobronchial morphology	7461	CLIP2	ORPHA:904
HP:0005607	Abnormal tracheobronchial morphology	84277	DNAJC30	ORPHA:904
HP:0005607	Abnormal tracheobronchial morphology	8468	FKBP6	ORPHA:904
HP:0005607	Abnormal tracheobronchial morphology	5982	RFC2	ORPHA:904
HP:0005607	Abnormal tracheobronchial morphology	2969	GTF2I	ORPHA:904
HP:0005607	Abnormal tracheobronchial morphology	3984	LIMK1	ORPHA:904
HP:0005607	Abnormal tracheobronchial morphology	9569	GTF2IRD1	ORPHA:904
HP:0005607	Abnormal tracheobronchial morphology	155382	VPS37D	ORPHA:904
HP:0005607	Abnormal tracheobronchial morphology	155368	METTL27	ORPHA:904
HP:0005607	Abnormal tracheobronchial morphology	114049	BUD23	ORPHA:904
HP:0005607	Abnormal tracheobronchial morphology	7458	EIF4H	ORPHA:904
HP:0005607	Abnormal tracheobronchial morphology	84163	GTF2IRD2	ORPHA:904
HP:0005607	Abnormal tracheobronchial morphology	26608	TBL2	ORPHA:904
HP:0005607	Abnormal tracheobronchial morphology	653361	NCF1	ORPHA:904
HP:0005607	Abnormal tracheobronchial morphology	653361	NCF1	ORPHA:379
HP:0005607	Abnormal tracheobronchial morphology	135886	TMEM270	ORPHA:904
HP:0005607	Abnormal tracheobronchial morphology	9031	BAZ1B	ORPHA:904
HP:0005607	Abnormal tracheobronchial morphology	2006	ELN	ORPHA:904
HP:0005607	Abnormal tracheobronchial morphology	5979	RET	ORPHA:1848
HP:0005607	Abnormal tracheobronchial morphology	8516	ITGA8	ORPHA:1848
HP:0005607	Abnormal tracheobronchial morphology	26281	FGF20	ORPHA:1848
HP:0005607	Abnormal tracheobronchial morphology	2674	GFRA1	ORPHA:1848
HP:0005607	Abnormal tracheobronchial morphology	7484	WNT9B	ORPHA:1848
HP:0005607	Abnormal tracheobronchial morphology	80000	GREB1L	ORPHA:1848
HP:0005607	Abnormal tracheobronchial morphology	6558	SLC12A2	OMIM:619083
HP:0005607	Abnormal tracheobronchial morphology	84172	POLR1B	ORPHA:861
HP:0005607	Abnormal tracheobronchial morphology	9533	POLR1C	ORPHA:861
HP:0005607	Abnormal tracheobronchial morphology	51082	POLR1D	ORPHA:861
HP:0005607	Abnormal tracheobronchial morphology	6949	TCOF1	ORPHA:861
HP:0005607	Abnormal tracheobronchial morphology	6299	SALL1	OMIM:107480
HP:0005607	Abnormal tracheobronchial morphology	7547	ZIC3	OMIM:314390
HP:0005607	Abnormal tracheobronchial morphology	55788	LMBRD1	OMIM:277380
HP:0005607	Abnormal tracheobronchial morphology	57466	SCAF4	OMIM:620511
HP:0005607	Abnormal tracheobronchial morphology	55636	CHD7	ORPHA:138
HP:0005607	Abnormal tracheobronchial morphology	55636	CHD7	OMIM:214800
HP:0005607	Abnormal tracheobronchial morphology	9723	SEMA3E	ORPHA:138
HP:0005607	Abnormal tracheobronchial morphology	1536	CYBB	ORPHA:379
HP:0005607	Abnormal tracheobronchial morphology	4688	NCF2	ORPHA:379
HP:0005607	Abnormal tracheobronchial morphology	1535	CYBA	ORPHA:379
HP:0005607	Abnormal tracheobronchial morphology	4689	NCF4	ORPHA:379
HP:0005607	Abnormal tracheobronchial morphology	79415	CYBC1	ORPHA:379
HP:0005607	Abnormal tracheobronchial morphology	6657	SOX2	ORPHA:77298
HP:0005607	Abnormal tracheobronchial morphology	6657	SOX2	ORPHA:3157
HP:0005607	Abnormal tracheobronchial morphology	4854	NOTCH3	ORPHA:2591
HP:0005607	Abnormal tracheobronchial morphology	5159	PDGFRB	ORPHA:2591
HP:0005607	Abnormal tracheobronchial morphology	2177	FANCD2	OMIM:227646
HP:0005607	Abnormal tracheobronchial morphology	2177	FANCD2	ORPHA:84
HP:0005607	Abnormal tracheobronchial morphology	55120	FANCL	OMIM:614083
HP:0005607	Abnormal tracheobronchial morphology	55120	FANCL	ORPHA:84
HP:0005607	Abnormal tracheobronchial morphology	10606	PAICS	OMIM:619859
HP:0005607	Abnormal tracheobronchial morphology	7476	WNT7A	ORPHA:2879
HP:0005607	Abnormal tracheobronchial morphology	85459	CEP295	OMIM:620767
HP:0005607	Abnormal tracheobronchial morphology	672	BRCA1	ORPHA:84
HP:0005607	Abnormal tracheobronchial morphology	10459	MAD2L2	ORPHA:84
HP:0005607	Abnormal tracheobronchial morphology	7516	XRCC2	ORPHA:84
HP:0005607	Abnormal tracheobronchial morphology	29089	UBE2T	ORPHA:84
HP:0005607	Abnormal tracheobronchial morphology	675	BRCA2	ORPHA:84
HP:0005607	Abnormal tracheobronchial morphology	2175	FANCA	ORPHA:84
HP:0005607	Abnormal tracheobronchial morphology	2176	FANCC	ORPHA:84
HP:0005607	Abnormal tracheobronchial morphology	2178	FANCE	ORPHA:84
HP:0005607	Abnormal tracheobronchial morphology	2188	FANCF	ORPHA:84
HP:0005607	Abnormal tracheobronchial morphology	2189	FANCG	ORPHA:84
HP:0005607	Abnormal tracheobronchial morphology	5888	RAD51	ORPHA:84
HP:0005607	Abnormal tracheobronchial morphology	5889	RAD51C	ORPHA:84
HP:0005607	Abnormal tracheobronchial morphology	55159	RFWD3	ORPHA:84
HP:0005607	Abnormal tracheobronchial morphology	83990	BRIP1	ORPHA:84
HP:0005607	Abnormal tracheobronchial morphology	57697	FANCM	ORPHA:84
HP:0005607	Abnormal tracheobronchial morphology	79728	PALB2	ORPHA:84
HP:0005607	Abnormal tracheobronchial morphology	84464	SLX4	ORPHA:84
HP:0005607	Abnormal tracheobronchial morphology	2072	ERCC4	ORPHA:84
HP:0005607	Abnormal tracheobronchial morphology	55215	FANCI	ORPHA:84
HP:0005607	Abnormal tracheobronchial morphology	3239	HOXD13	ORPHA:887
HP:0005607	Abnormal tracheobronchial morphology	5422	POLA1	OMIM:301030
HP:0005607	Abnormal tracheobronchial morphology	80169	CTC1	ORPHA:1775
HP:0005607	Abnormal tracheobronchial morphology	26277	TINF2	ORPHA:1775
HP:0005607	Abnormal tracheobronchial morphology	55651	NHP2	ORPHA:1775
HP:0005607	Abnormal tracheobronchial morphology	79650	USB1	ORPHA:1775
HP:0005607	Abnormal tracheobronchial morphology	55135	WRAP53	ORPHA:1775
HP:0005607	Abnormal tracheobronchial morphology	51750	RTEL1	ORPHA:1775
HP:0005607	Abnormal tracheobronchial morphology	4869	NPM1	ORPHA:1775
HP:0005607	Abnormal tracheobronchial morphology	7012	TERC	ORPHA:1775
HP:0005607	Abnormal tracheobronchial morphology	55505	NOP10	ORPHA:1775
HP:0005607	Abnormal tracheobronchial morphology	5073	PARN	ORPHA:1775
HP:0005607	Abnormal tracheobronchial morphology	7015	TERT	ORPHA:1775
HP:0005607	Abnormal tracheobronchial morphology	1736	DKC1	ORPHA:1775
HP:0005607	Abnormal tracheobronchial morphology	7298	TYMS	ORPHA:1775
HP:0005607	Abnormal tracheobronchial morphology	4281	MID1	ORPHA:2745
HP:0005607	Abnormal tracheobronchial morphology	4613	MYCN	OMIM:164280
HP:0005607	Abnormal tracheobronchial morphology	51729	WBP11	OMIM:619227
HP:0005607	Abnormal tracheobronchial morphology	2260	FGFR1	ORPHA:3157
HP:0005607	Abnormal tracheobronchial morphology	128674	PROKR2	ORPHA:3157
HP:0005607	Abnormal tracheobronchial morphology	6658	SOX3	ORPHA:3157
HP:0005607	Abnormal tracheobronchial morphology	9915	ARNT2	ORPHA:3157
HP:0005607	Abnormal tracheobronchial morphology	8820	HESX1	ORPHA:3157
HP:0005607	Abnormal tracheobronchial morphology	5015	OTX2	ORPHA:3157
HP:0005607	Abnormal tracheobronchial morphology	2201	FBN2	ORPHA:115
HP:0005607	Abnormal tracheobronchial morphology	699	BUB1	OMIM:620183
HP:0005607	Abnormal tracheobronchial morphology	6023	RMRP	ORPHA:175
HP:0005607	Abnormal tracheobronchial morphology	341640	FREM2	ORPHA:2052
HP:0005607	Abnormal tracheobronchial morphology	80144	FRAS1	ORPHA:2052
HP:0005607	Abnormal tracheobronchial morphology	23426	GRIP1	ORPHA:2052
HP:0005607	Abnormal tracheobronchial morphology	5116	PCNT	ORPHA:2637
HP:0005607	Abnormal tracheobronchial morphology	6885	MAP3K7	OMIM:617137
HP:0005607	Abnormal tracheobronchial morphology	3766	KCNJ10	ORPHA:705
HP:0005607	Abnormal tracheobronchial morphology	2299	FOXI1	ORPHA:705
HP:0005607	Abnormal tracheobronchial morphology	5172	SLC26A4	ORPHA:705
HP:0005607	Abnormal tracheobronchial morphology	9719	ADAMTSL2	OMIM:231050
HP:0005607	Abnormal tracheobronchial morphology	7473	WNT3	ORPHA:3301
HP:0005607	Abnormal tracheobronchial morphology	340419	RSPO2	ORPHA:3301
HP:0005607	Abnormal tracheobronchial morphology	9496	TBX4	ORPHA:3301
HP:0005607	Abnormal tracheobronchial morphology	219844	HYLS1	OMIM:236680
HP:0005607	Abnormal tracheobronchial morphology	10682	EBP	OMIM:302960
HP:0005607	Abnormal tracheobronchial morphology	9839	ZEB2	ORPHA:261537
HP:0005607	Abnormal tracheobronchial morphology	9839	ZEB2	ORPHA:261552
HP:0005607	Abnormal tracheobronchial morphology	2317	FLNB	OMIM:150250
HP:0005607	Abnormal tracheobronchial morphology	6662	SOX9	ORPHA:718
HP:0005607	Abnormal tracheobronchial morphology	1717	DHCR7	ORPHA:818
HP:0005607	Abnormal tracheobronchial morphology	3425	IDUA	OMIM:607015
HP:0005607	Abnormal tracheobronchial morphology	4054	LTBP3	OMIM:617809
HP:0005607	Abnormal tracheobronchial morphology	79633	FAT4	OMIM:616006
HP:0005607	Abnormal tracheobronchial morphology	79633	FAT4	ORPHA:314679
HP:0005607	Abnormal tracheobronchial morphology	8642	DCHS1	ORPHA:314679
HP:0005607	Abnormal tracheobronchial morphology	11146	GLMN	ORPHA:83454
HP:0005607	Abnormal tracheobronchial morphology	8425	LTBP4	OMIM:613177
HP:0005607	Abnormal tracheobronchial morphology	6125	RPL5	OMIM:612561
HP:0005607	Abnormal tracheobronchial morphology	27125	AFF4	OMIM:616368
HP:0005607	Abnormal tracheobronchial morphology	27125	AFF4	ORPHA:444077
HP:0005607	Abnormal tracheobronchial morphology	5396	PRRX1	OMIM:202650
HP:0005607	Abnormal tracheobronchial morphology	9759	HDAC4	ORPHA:1001
HP:0005607	Abnormal tracheobronchial morphology	5428	POLG	OMIM:203700
HP:0005607	Abnormal tracheobronchial morphology	80232	WDR26	ORPHA:513456
HP:0005607	Abnormal tracheobronchial morphology	79813	EHMT1	ORPHA:261652
HP:0005607	Abnormal tracheobronchial morphology	58508	KMT2C	ORPHA:261652
HP:0005607	Abnormal tracheobronchial morphology	2077	ERF	OMIM:617180
HP:0005607	Abnormal tracheobronchial morphology	284058	KANSL1	ORPHA:363965
HP:0005607	Abnormal tracheobronchial morphology	284058	KANSL1	ORPHA:363958
HP:0005607	Abnormal tracheobronchial morphology	6628	SNRPB	ORPHA:1393
HP:0005607	Abnormal tracheobronchial morphology	374879	ZNF699	OMIM:619488
HP:0005607	Abnormal tracheobronchial morphology	253959	RALGAPA1	OMIM:618797
HP:0005607	Abnormal tracheobronchial morphology	27245	AHDC1	ORPHA:412069
HP:0005607	Abnormal tracheobronchial morphology	8239	USP9X	OMIM:300919
HP:0005607	Abnormal tracheobronchial morphology	25782	RAB3GAP2	OMIM:212720
HP:0005607	Abnormal tracheobronchial morphology	29072	SETD2	OMIM:620155
HP:0005607	Abnormal tracheobronchial morphology	5077	PAX3	ORPHA:896
HP:0005607	Abnormal tracheobronchial morphology	139285	AMER1	OMIM:300373
HP:0005607	Abnormal tracheobronchial morphology	745	MYRF	OMIM:618280
HP:0005607	Abnormal tracheobronchial morphology	126792	B3GALT6	ORPHA:536467
HP:0005607	Abnormal tracheobronchial morphology	2263	FGFR2	ORPHA:93260
HP:0005607	Abnormal tracheobronchial morphology	2263	FGFR2	ORPHA:93259
HP:0005607	Abnormal tracheobronchial morphology	23321	TRIM2	OMIM:615490
HP:0005607	Abnormal tracheobronchial morphology	1280	COL2A1	OMIM:156550
HP:0005607	Abnormal tracheobronchial morphology	5000	ORC4	OMIM:613800
HP:0005607	Abnormal tracheobronchial morphology	5908	RAP1B	OMIM:620654
HP:0005607	Abnormal tracheobronchial morphology	3265	HRAS	OMIM:218040
HP:0005607	Abnormal tracheobronchial morphology	23594	ORC6	OMIM:613803
HP:0005607	Abnormal tracheobronchial morphology	84181	CHD6	ORPHA:2108
HP:0005607	Abnormal tracheobronchial morphology	90952	ESAM	OMIM:620371
HP:0005607	Abnormal tracheobronchial morphology	168667	BMPER	OMIM:608022
HP:0005607	Abnormal tracheobronchial morphology	5447	POR	OMIM:201750
HP:0005607	Abnormal tracheobronchial morphology	4629	MYH11	OMIM:619351
HP:0005607	Abnormal tracheobronchial morphology	7994	KAT6A	OMIM:616268
HP:0005607	Abnormal tracheobronchial morphology	3852	KRT5	ORPHA:79396
HP:0005607	Abnormal tracheobronchial morphology	3861	KRT14	ORPHA:79396
HP:0005607	Abnormal tracheobronchial morphology	222663	SCUBE3	OMIM:619184
HP:0005607	Abnormal tracheobronchial morphology	3423	IDS	OMIM:309900
HP:0005607	Abnormal tracheobronchial morphology	5879	RAC1	OMIM:617751
HP:0005607	Abnormal tracheobronchial morphology	5879	RAC1	ORPHA:500159
HP:0005607	Abnormal tracheobronchial morphology	25885	POLR1A	OMIM:616462
HP:0005607	Abnormal tracheobronchial morphology	51053	GMNN	OMIM:616835
HP:0005607	Abnormal tracheobronchial morphology	3930	LBR	OMIM:215140
HP:0005607	Abnormal tracheobronchial morphology	4921	DDR2	OMIM:271665
HP:0005607	Abnormal tracheobronchial morphology	4256	MGP	OMIM:245150
HP:0005607	Abnormal tracheobronchial morphology	83844	USP26	OMIM:301101
HP:0005607	Abnormal tracheobronchial morphology	6595	SMARCA2	OMIM:619293
HP:0005607	Abnormal tracheobronchial morphology	139818	DOCK11	OMIM:301109
HP:0005607	Abnormal tracheobronchial morphology	23308	ICOSLG	OMIM:620825
HP:0005607	Abnormal tracheobronchial morphology	23765	IL17RA	OMIM:613953
HP:0005607	Abnormal tracheobronchial morphology	3588	IL10RB	OMIM:612567
HP:0005607	Abnormal tracheobronchial morphology	3561	IL2RG	OMIM:312863
HP:0005607	Abnormal tracheobronchial morphology	6901	TAFAZZIN	OMIM:302060
HP:0005607	Abnormal tracheobronchial morphology	26834	RNU4-2	OMIM:620851
HP:0005607	Abnormal tracheobronchial morphology	79158	GNPTAB	OMIM:252500
HP:0005607	Abnormal tracheobronchial morphology	29927	SEC61A1	OMIM:620670
HP:0005607	Abnormal tracheobronchial morphology	64864	RFX7	OMIM:620330
HP:0005607	Abnormal tracheobronchial morphology	2137	EXTL3	ORPHA:508533
HP:0005607	Abnormal tracheobronchial morphology	2137	EXTL3	OMIM:617425
HP:0005607	Abnormal tracheobronchial morphology	1836	SLC26A2	OMIM:222600
HP:0005607	Abnormal tracheobronchial morphology	4089	SMAD4	OMIM:139210
HP:0005607	Abnormal tracheobronchial morphology	3115	HLA-DPB1	ORPHA:133
HP:0005607	Abnormal tracheobronchial morphology	2314	FLII	ORPHA:819
HP:0005607	Abnormal tracheobronchial morphology	23096	IQSEC2	ORPHA:819
HP:0005607	Abnormal tracheobronchial morphology	10743	RAI1	ORPHA:819
HP:0005607	Abnormal tracheobronchial morphology	10743	RAI1	OMIM:182290
HP:0005607	Abnormal tracheobronchial morphology	10522	DEAF1	ORPHA:819
HP:0005607	Abnormal tracheobronchial morphology	5002	SLC22A18	OMIM:211980
HP:0005607	Abnormal tracheobronchial morphology	1956	EGFR	OMIM:211980
HP:0005607	Abnormal tracheobronchial morphology	5519	PPP2R1B	OMIM:211980
HP:0005607	Abnormal tracheobronchial morphology	2074	ERCC6	OMIM:211980
HP:0005607	Abnormal tracheobronchial morphology	1326	MAP3K8	OMIM:211980
HP:0005607	Abnormal tracheobronchial morphology	3845	KRAS	OMIM:211980
HP:0005607	Abnormal tracheobronchial morphology	5071	PRKN	OMIM:211980
HP:0005607	Abnormal tracheobronchial morphology	1548	CYP2A6	OMIM:211980
HP:0005607	Abnormal tracheobronchial morphology	2064	ERBB2	OMIM:211980
HP:0005607	Abnormal tracheobronchial morphology	673	BRAF	OMIM:211980
HP:0005607	Abnormal tracheobronchial morphology	3659	IRF1	OMIM:211980
HP:0005607	Abnormal tracheobronchial morphology	841	CASP8	OMIM:211980
HP:0005607	Abnormal tracheobronchial morphology	356	FASLG	OMIM:211980
HP:0005607	Abnormal tracheobronchial morphology	5290	PIK3CA	OMIM:211980
HP:0005607	Abnormal tracheobronchial morphology	1288	COL4A6	ORPHA:1018
HP:0005607	Abnormal tracheobronchial morphology	1287	COL4A5	ORPHA:1018
HP:0005607	Abnormal tracheobronchial morphology	3835	KIF22	ORPHA:93360
HP:0005607	Abnormal tracheobronchial morphology	3835	KIF22	OMIM:603546
HP:0005607	Abnormal tracheobronchial morphology	8295	TRRAP	OMIM:618454
HP:0005607	Abnormal tracheobronchial morphology	23065	EMC1	OMIM:616875
HP:0005607	Abnormal tracheobronchial morphology	23065	EMC1	ORPHA:480898
HP:0005607	Abnormal tracheobronchial morphology	3098	HK1	OMIM:618547
HP:0005607	Abnormal tracheobronchial morphology	4796	TONSL	OMIM:271510
HP:0005607	Abnormal tracheobronchial morphology	65992	DDRGK1	ORPHA:93352
HP:0005607	Abnormal tracheobronchial morphology	415	ARSL	ORPHA:79345
HP:0005607	Abnormal tracheobronchial morphology	5062	PAK2	OMIM:618458
HP:0005607	Abnormal tracheobronchial morphology	79989	IFT56	OMIM:619534
HP:0005607	Abnormal tracheobronchial morphology	23149	FCHO1	OMIM:619164
HP:0005607	Abnormal tracheobronchial morphology	23405	DICER1	OMIM:601200
HP:0005607	Abnormal tracheobronchial morphology	23405	DICER1	OMIM:180295
HP:0005607	Abnormal tracheobronchial morphology	23405	DICER1	ORPHA:276399
HP:0005607	Abnormal tracheobronchial morphology	9817	KEAP1	ORPHA:276399
HP:0005607	Abnormal tracheobronchial morphology	374654	KIF7	ORPHA:2189
HP:0005605	Large cafe-au-lait macules with irregular margins	2778	GNAS	ORPHA:562
HP:0005605	Large cafe-au-lait macules with irregular margins	2778	GNAS	OMIM:174800
HP:0005605	Large cafe-au-lait macules with irregular margins	4221	MEN1	ORPHA:652
HP:0005605	Large cafe-au-lait macules with irregular margins	1027	CDKN1B	ORPHA:652
HP:0005605	Large cafe-au-lait macules with irregular margins	1026	CDKN1A	ORPHA:652
HP:0005605	Large cafe-au-lait macules with irregular margins	1030	CDKN2B	ORPHA:652
HP:0005605	Large cafe-au-lait macules with irregular margins	1031	CDKN2C	ORPHA:652
HP:0005602	Progressive vitiligo	4683	NBN	OMIM:251260
HP:0005622	Broad long bones	26175	LYSET	OMIM:619345
HP:0005622	Broad long bones	6473	SHOX	OMIM:249700
HP:0005622	Broad long bones	4921	DDR2	OMIM:271665
HP:0005622	Broad long bones	1280	COL2A1	OMIM:200610
HP:0005622	Broad long bones	633	BGN	OMIM:300106
HP:0005622	Broad long bones	1301	COL11A1	OMIM:228520
HP:0005622	Broad long bones	55733	HHAT	ORPHA:1422
HP:0005622	Broad long bones	1277	COL1A1	OMIM:166210
HP:0005622	Broad long bones	1278	COL1A2	OMIM:166210
HP:0005622	Broad long bones	2697	GJA1	OMIM:257850
HP:0005622	Broad long bones	3339	HSPG2	ORPHA:1865
HP:0005622	Broad long bones	1836	SLC26A2	ORPHA:56304
HP:0005622	Broad long bones	22827	PUF60	ORPHA:508498
HP:0005622	Broad long bones	4882	NPR2	OMIM:602875
HP:0005622	Broad long bones	83452	RAB33B	OMIM:615222
HP:0005622	Broad long bones	5144	PDE4D	ORPHA:439822
HP:0005622	Broad long bones	2260	FGFR1	OMIM:166250
HP:0005622	Broad long bones	5593	PRKG2	OMIM:619636
HP:0005622	Broad long bones	1788	DNMT3A	OMIM:618724
HP:0005622	Broad long bones	64135	IFIH1	OMIM:182250
HP:0005622	Broad long bones	1387	CREBBP	ORPHA:353277
HP:0005622	Broad long bones	2033	EP300	ORPHA:353284
HP:0005622	Broad long bones	2317	FLNB	OMIM:108721
HP:0005622	Broad long bones	7700	ZNF141	OMIM:615226
HP:0005622	Broad long bones	2778	GNAS	ORPHA:79443
HP:0005622	Broad long bones	2778	GNAS	ORPHA:79444
HP:0005622	Broad long bones	3239	HOXD13	OMIM:113200
HP:0005622	Broad long bones	2137	EXTL3	ORPHA:508533
HP:0005622	Broad long bones	2200	FBN1	OMIM:608328
HP:0005622	Broad long bones	2316	FLNA	OMIM:305620
HP:0005622	Broad long bones	81794	ADAMTS10	OMIM:277600
HP:0005622	Broad long bones	9949	AMMECR1	OMIM:300990
HP:0005622	Broad long bones	9653	HS2ST1	OMIM:619194
HP:0005622	Broad long bones	2239	GPC4	OMIM:301026
HP:0005622	Broad long bones	2239	GPC4	ORPHA:2662
HP:0005622	Broad long bones	3835	KIF22	OMIM:603546
HP:0005622	Broad long bones	80204	FBXO11	OMIM:618089
HP:0005622	Broad long bones	100151683	RNU4ATAC	ORPHA:2636
HP:0005622	Broad long bones	126792	B3GALT6	OMIM:609465
HP:0005622	Broad long bones	126792	B3GALT6	OMIM:271640
HP:0005622	Broad long bones	55209	SETD5	ORPHA:404440
HP:0005622	Broad long bones	55209	SETD5	OMIM:615761
HP:0005622	Broad long bones	57459	GATAD2B	ORPHA:363686
HP:0005622	Broad long bones	6595	SMARCA2	OMIM:601358
HP:0005622	Broad long bones	6595	SMARCA2	ORPHA:3051
HP:0005622	Broad long bones	23404	EXOSC2	OMIM:617763
HP:0005622	Broad long bones	79971	WLS	OMIM:619648
HP:0005622	Broad long bones	388015	RTL1	ORPHA:96334
HP:0005622	Broad long bones	8788	DLK1	ORPHA:96334
HP:0005622	Broad long bones	55384	MEG3	ORPHA:96334
HP:0005622	Broad long bones	25871	NEPRO	OMIM:618853
HP:0005622	Broad long bones	1300	COL10A1	OMIM:156500
HP:0005622	Broad long bones	5293	PIK3CD	ORPHA:221139
HP:0005622	Broad long bones	90417	KNSTRN	ORPHA:221139
HP:0005622	Broad long bones	9469	CHST3	OMIM:245600
HP:0005622	Broad long bones	26229	B3GAT3	OMIM:245600
HP:0005622	Broad long bones	55764	IFT122	OMIM:218330
HP:0005622	Broad long bones	10664	CTCF	ORPHA:363611
HP:0005622	Broad long bones	1947	EFNB1	ORPHA:1520
HP:0005622	Broad long bones	57167	SALL4	ORPHA:959
HP:0005622	Broad long bones	3764	KCNJ8	ORPHA:1517
HP:0005622	Broad long bones	10060	ABCC9	ORPHA:1517
HP:0005622	Broad long bones	2313	FLI1	ORPHA:2308
HP:0005622	Broad long bones	57728	WDR19	OMIM:614378
HP:0005622	Broad long bones	5728	PTEN	ORPHA:79076
HP:0005622	Broad long bones	657	BMPR1A	ORPHA:79076
HP:0005622	Broad long bones	6792	CDKL5	ORPHA:1934
HP:0005622	Broad long bones	3736	KCNA1	ORPHA:1934
HP:0005622	Broad long bones	9091	PIGQ	ORPHA:1934
HP:0005622	Broad long bones	140679	SLC32A1	ORPHA:1934
HP:0005622	Broad long bones	2775	GNAO1	ORPHA:1934
HP:0005622	Broad long bones	81603	TRIM8	ORPHA:1934
HP:0005622	Broad long bones	2902	GRIN1	ORPHA:1934
HP:0005622	Broad long bones	79751	SLC25A22	ORPHA:1934
HP:0005622	Broad long bones	150094	SIK1	ORPHA:1934
HP:0005622	Broad long bones	8573	CASK	ORPHA:1934
HP:0005622	Broad long bones	23312	DMXL2	ORPHA:1934
HP:0005622	Broad long bones	2917	GRM7	ORPHA:1934
HP:0005622	Broad long bones	170302	ARX	ORPHA:1934
HP:0005622	Broad long bones	11284	PNKP	ORPHA:1934
HP:0005622	Broad long bones	6326	SCN2A	ORPHA:1934
HP:0005622	Broad long bones	51227	PIGP	ORPHA:1934
HP:0005622	Broad long bones	6324	SCN1B	ORPHA:1934
HP:0005622	Broad long bones	4761	NEUROD2	ORPHA:1934
HP:0005622	Broad long bones	81857	MED25	ORPHA:464738
HP:0005622	Broad long bones	7291	TWIST1	ORPHA:794
HP:0005622	Broad long bones	7291	TWIST1	OMIM:180750
HP:0005622	Broad long bones	2263	FGFR2	ORPHA:794
HP:0005622	Broad long bones	2263	FGFR2	ORPHA:87
HP:0005622	Broad long bones	2263	FGFR2	ORPHA:93260
HP:0005622	Broad long bones	2263	FGFR2	ORPHA:93258
HP:0005622	Broad long bones	2263	FGFR2	ORPHA:93259
HP:0005622	Broad long bones	2263	FGFR2	OMIM:101600
HP:0005622	Broad long bones	2263	FGFR2	OMIM:101200
HP:0005622	Broad long bones	2261	FGFR3	ORPHA:794
HP:0005622	Broad long bones	2261	FGFR3	OMIM:602849
HP:0005622	Broad long bones	2737	GLI3	ORPHA:672
HP:0005622	Broad long bones	2737	GLI3	ORPHA:380
HP:0005622	Broad long bones	2737	GLI3	OMIM:175700
HP:0005622	Broad long bones	2737	GLI3	OMIM:174200
HP:0005622	Broad long bones	23394	ADNP	ORPHA:404448
HP:0005622	Broad long bones	6910	TBX5	ORPHA:392
HP:0005622	Broad long bones	6477	SIAH1	OMIM:619314
HP:0005622	Broad long bones	10059	DNM1L	OMIM:614388
HP:0005622	Broad long bones	6885	MAP3K7	OMIM:617137
HP:0005622	Broad long bones	6885	MAP3K7	ORPHA:1826
HP:0005622	Broad long bones	23314	SATB2	ORPHA:251028
HP:0005622	Broad long bones	23314	SATB2	ORPHA:251019
HP:0005622	Broad long bones	23314	SATB2	ORPHA:576283
HP:0005622	Broad long bones	64327	LMBR1	OMIM:190605
HP:0005622	Broad long bones	9241	NOG	OMIM:184460
HP:0005622	Broad long bones	9241	NOG	ORPHA:3237
HP:0005622	Broad long bones	6299	SALL1	OMIM:107480
HP:0005622	Broad long bones	6299	SALL1	ORPHA:857
HP:0005622	Broad long bones	10847	SRCAP	OMIM:136140
HP:0005622	Broad long bones	650	BMP2	ORPHA:261295
HP:0005622	Broad long bones	3020	H3-3A	OMIM:619720
HP:0005622	Broad long bones	29998	BICRA	OMIM:619325
HP:0005622	Broad long bones	3021	H3-3B	OMIM:619721
HP:0005622	Broad long bones	4920	ROR2	OMIM:113000
HP:0005622	Broad long bones	4920	ROR2	ORPHA:1507
HP:0005622	Broad long bones	4920	ROR2	OMIM:268310
HP:0005622	Broad long bones	1855	DVL1	OMIM:616331
HP:0005622	Broad long bones	1855	DVL1	OMIM:180700
HP:0005622	Broad long bones	473	RERE	OMIM:616975
HP:0005622	Broad long bones	8239	USP9X	OMIM:300919
HP:0005622	Broad long bones	3248	HPGD	ORPHA:217059
HP:0005622	Broad long bones	176	ACAN	OMIM:612813
HP:0005622	Broad long bones	176	ACAN	ORPHA:171866
HP:0005622	Broad long bones	51132	RLIM	OMIM:300978
HP:0005622	Broad long bones	64359	NXN	OMIM:618529
HP:0005622	Broad long bones	64359	NXN	ORPHA:1507
HP:0005622	Broad long bones	92579	G6PC3	OMIM:612541
HP:0005622	Broad long bones	64131	XYLT1	OMIM:615777
HP:0005622	Broad long bones	64131	XYLT1	ORPHA:370930
HP:0005622	Broad long bones	29920	PYCR2	ORPHA:481152
HP:0005622	Broad long bones	64093	SMOC1	ORPHA:1106
HP:0005622	Broad long bones	2626	GATA4	ORPHA:251071
HP:0005622	Broad long bones	8726	EED	OMIM:617561
HP:0005622	Broad long bones	5718	PSMD12	ORPHA:529962
HP:0005622	Broad long bones	2186	BPTF	ORPHA:529962
HP:0005622	Broad long bones	4212	MEIS2	OMIM:600987
HP:0005622	Broad long bones	1954	MEGF8	OMIM:614976
HP:0005622	Broad long bones	1954	MEGF8	ORPHA:65759
HP:0005622	Broad long bones	51715	RAB23	ORPHA:65759
HP:0005622	Broad long bones	8200	GDF5	ORPHA:3237
HP:0005622	Broad long bones	2254	FGF9	ORPHA:3237
HP:0005622	Broad long bones	2254	FGF9	OMIM:612961
HP:0005622	Broad long bones	3981	LIG4	ORPHA:235
HP:0005622	Broad long bones	54888	NSUN2	ORPHA:235
HP:0005622	Broad long bones	6608	SMO	OMIM:601707
HP:0005622	Broad long bones	6608	SMO	ORPHA:1553
HP:0005622	Broad long bones	23126	POGZ	OMIM:616364
HP:0005622	Broad long bones	51633	OTUD6B	OMIM:617452
HP:0005622	Broad long bones	51633	OTUD6B	ORPHA:505237
HP:0005622	Broad long bones	79753	SNIP1	OMIM:614501
HP:0005622	Broad long bones	9968	MED12	OMIM:309520
HP:0005622	Broad long bones	9968	MED12	OMIM:305450
HP:0005622	Broad long bones	80036	TRPM3	OMIM:620224
HP:0005622	Broad long bones	285362	SUMF1	OMIM:272200
HP:0005622	Broad long bones	285362	SUMF1	ORPHA:585
HP:0005622	Broad long bones	79759	ZNF668	OMIM:620194
HP:0005622	Broad long bones	10236	HNRNPR	OMIM:620073
HP:0005622	Broad long bones	284252	KCTD1	OMIM:181270
HP:0005622	Broad long bones	1857	DVL3	OMIM:616894
HP:0005622	Broad long bones	8481	OFD1	OMIM:300209
HP:0005622	Broad long bones	56098	PCDHGC4	OMIM:619880
HP:0005622	Broad long bones	51339	DACT1	ORPHA:857
HP:0005622	Broad long bones	3756	KCNH1	ORPHA:420561
HP:0005622	Broad long bones	3756	KCNH1	OMIM:611816
HP:0005622	Broad long bones	2719	GPC3	ORPHA:373
HP:0005622	Broad long bones	2719	GPC3	OMIM:312870
HP:0005622	Broad long bones	4123	MAN2C1	OMIM:619775
HP:0005622	Broad long bones	4488	MSX2	ORPHA:60015
HP:0005622	Broad long bones	60529	ALX4	ORPHA:60015
HP:0005622	Broad long bones	79989	IFT56	OMIM:619534
HP:0005622	Broad long bones	2146	EZH2	OMIM:277590
HP:0005622	Broad long bones	2146	EZH2	ORPHA:3447
HP:0005622	Broad long bones	9939	RBM8A	ORPHA:3320
HP:0005622	Broad long bones	9939	RBM8A	OMIM:274000
HP:0005622	Broad long bones	7474	WNT5A	OMIM:180700
HP:0005622	Broad long bones	64324	NSD1	ORPHA:3447
HP:0005622	Broad long bones	23512	SUZ12	ORPHA:3447
HP:0005622	Broad long bones	5587	PRKD1	OMIM:617364
HP:0005622	Broad long bones	2703	GJA8	OMIM:612474
HP:0005622	Broad long bones	2702	GJA5	OMIM:612474
HP:0005622	Broad long bones	55690	PACS1	ORPHA:329224
HP:0005622	Broad long bones	22907	DHX30	OMIM:617804
HP:0005622	Broad long bones	865	CBFB	OMIM:620099
HP:0005622	Broad long bones	10082	GPC6	OMIM:258315
HP:0005622	Broad long bones	3636	INPPL1	ORPHA:3144
HP:0005622	Broad long bones	23169	SLC35D1	ORPHA:3144
HP:0005623	Absent ossification of calvaria	1277	COL1A1	OMIM:166210
HP:0005623	Absent ossification of calvaria	1278	COL1A2	OMIM:166210
HP:0010041	Short 3rd metacarpal	3930	LBR	OMIM:169400
HP:0010041	Short 3rd metacarpal	2316	FLNA	OMIM:311300
HP:0010041	Short 3rd metacarpal	374969	SVBP	OMIM:618569
HP:0010041	Short 3rd metacarpal	2778	GNAS	ORPHA:79443
HP:0010041	Short 3rd metacarpal	2778	GNAS	ORPHA:79444
HP:0010920	Zonular cataract	10484	SEC23A	OMIM:607812
HP:0010920	Zonular cataract	3982	LIM2	OMIM:615277
HP:0010920	Zonular cataract	5062	PAK2	OMIM:618458
HP:0010920	Zonular cataract	4952	OCRL	OMIM:309000
HP:0010920	Zonular cataract	1413	CRYBA4	OMIM:610425
HP:0010920	Zonular cataract	1427	CRYGS	OMIM:116100
HP:0010920	Zonular cataract	1419	CRYGB	OMIM:615188
HP:0010920	Zonular cataract	631	BFSP1	OMIM:611391
HP:0010920	Zonular cataract	4284	MIP	OMIM:615274
HP:0010920	Zonular cataract	84816	RTN4IP1	OMIM:616732
HP:0010920	Zonular cataract	4094	MAF	OMIM:610202
HP:0010920	Zonular cataract	80207	OPA3	ORPHA:67036
HP:0010920	Zonular cataract	7439	BEST1	OMIM:193220
HP:0010920	Zonular cataract	7431	VIM	OMIM:116300
HP:0010920	Zonular cataract	4810	NHS	OMIM:302200
HP:0010920	Zonular cataract	2703	GJA8	OMIM:612474
HP:0010920	Zonular cataract	2702	GJA5	OMIM:612474
HP:0010920	Zonular cataract	1415	CRYBB2	OMIM:601547
HP:0010920	Zonular cataract	35	ACADS	OMIM:201470
HP:0010920	Zonular cataract	9401	RECQL4	OMIM:268400
HP:0010920	Zonular cataract	1411	CRYBA1	OMIM:600881
HP:0010920	Zonular cataract	3299	HSF4	OMIM:116800
HP:0010920	Zonular cataract	2700	GJA3	OMIM:601885
HP:0010920	Zonular cataract	8443	GNPAT	OMIM:222765
HP:0010920	Zonular cataract	6513	SLC2A1	ORPHA:168577
HP:0010920	Zonular cataract	81570	CLPB	OMIM:616271
HP:0010920	Zonular cataract	8314	BAP1	ORPHA:39044
HP:0010920	Zonular cataract	57105	CYSLTR2	ORPHA:39044
HP:0010920	Zonular cataract	2776	GNAQ	ORPHA:39044
HP:0010920	Zonular cataract	2767	GNA11	ORPHA:39044
HP:0010920	Zonular cataract	23451	SF3B1	ORPHA:39044
HP:0010920	Zonular cataract	55229	PANK4	OMIM:619593
HP:0010920	Zonular cataract	7466	WFS1	OMIM:116400
HP:0010920	Zonular cataract	10002	NR2E3	OMIM:611131
HP:0010920	Zonular cataract	79797	ZNF408	OMIM:616468
HP:0010920	Zonular cataract	2202	EFEMP1	OMIM:611276
HP:0010920	Zonular cataract	1417	CRYBB3	OMIM:609741
HP:0010920	Zonular cataract	128866	CHMP4B	OMIM:605387
HP:0010920	Zonular cataract	1420	CRYGC	OMIM:604307
HP:0010920	Zonular cataract	2512	FTL	OMIM:600886
HP:0010920	Zonular cataract	50939	IMPG2	OMIM:613581
HP:0010920	Zonular cataract	755	CFAP410	OMIM:617547
HP:0010920	Zonular cataract	10216	PRG4	ORPHA:2848
HP:0010920	Zonular cataract	4598	MVK	OMIM:610377
HP:0010920	Zonular cataract	2697	GJA1	ORPHA:1010
HP:0010920	Zonular cataract	1414	CRYBB1	OMIM:611544
HP:0010920	Zonular cataract	79443	FYCO1	OMIM:610019
HP:0010920	Zonular cataract	2584	GALK1	ORPHA:79237
HP:0010920	Zonular cataract	80781	COL18A1	OMIM:267750
HP:0010920	Zonular cataract	57670	KIAA1549	OMIM:618613
HP:0010920	Zonular cataract	7855	FZD5	OMIM:620731
HP:0010920	Zonular cataract	4771	NF2	ORPHA:637
HP:0010920	Zonular cataract	4771	NF2	OMIM:101000
HP:0010923	Anterior subcapsular cataract	2512	FTL	OMIM:600886
HP:0010923	Anterior subcapsular cataract	128866	CHMP4B	OMIM:605387
HP:0010923	Anterior subcapsular cataract	80207	OPA3	ORPHA:67036
HP:0010923	Anterior subcapsular cataract	5080	PAX6	OMIM:106210
HP:0010923	Anterior subcapsular cataract	7490	WT1	OMIM:106210
HP:0010923	Anterior subcapsular cataract	540	ATP7B	OMIM:277900
HP:0010924	Posterior cortical cataract	4952	OCRL	OMIM:309000
HP:0010924	Posterior cortical cataract	80207	OPA3	ORPHA:67036
HP:0010924	Posterior cortical cataract	55229	PANK4	OMIM:619593
HP:0010925	Nuclear punctate cataract	2703	GJA8	OMIM:612474
HP:0010925	Nuclear punctate cataract	2702	GJA5	OMIM:612474
HP:0010925	Nuclear punctate cataract	1420	CRYGC	OMIM:604307
HP:0010925	Nuclear punctate cataract	1415	CRYBB2	OMIM:601547
HP:0010926	Aculeiform cataract	1420	CRYGC	OMIM:604307
HP:0010927	Abnormal blood inorganic cation concentration	83483	PLVAP	OMIM:618183
HP:0010927	Abnormal blood inorganic cation concentration	7421	VDR	ORPHA:93160
HP:0010927	Abnormal blood inorganic cation concentration	10312	TCIRG1	OMIM:259700
HP:0010927	Abnormal blood inorganic cation concentration	10312	TCIRG1	ORPHA:667
HP:0010927	Abnormal blood inorganic cation concentration	10312	TCIRG1	ORPHA:210110
HP:0010927	Abnormal blood inorganic cation concentration	857	CAV1	OMIM:612526
HP:0010927	Abnormal blood inorganic cation concentration	2767	GNA11	ORPHA:428
HP:0010927	Abnormal blood inorganic cation concentration	2767	GNA11	OMIM:615361
HP:0010927	Abnormal blood inorganic cation concentration	846	CASR	ORPHA:428
HP:0010927	Abnormal blood inorganic cation concentration	846	CASR	OMIM:601198
HP:0010927	Abnormal blood inorganic cation concentration	6261	RYR1	ORPHA:466650
HP:0010927	Abnormal blood inorganic cation concentration	2778	GNAS	ORPHA:94089
HP:0010927	Abnormal blood inorganic cation concentration	2778	GNAS	OMIM:603233
HP:0010927	Abnormal blood inorganic cation concentration	2778	GNAS	OMIM:612462
HP:0010927	Abnormal blood inorganic cation concentration	2778	GNAS	ORPHA:79443
HP:0010927	Abnormal blood inorganic cation concentration	2778	GNAS	ORPHA:79444
HP:0010927	Abnormal blood inorganic cation concentration	2778	GNAS	ORPHA:79445
HP:0010927	Abnormal blood inorganic cation concentration	8675	STX16	ORPHA:94089
HP:0010927	Abnormal blood inorganic cation concentration	8675	STX16	OMIM:603233
HP:0010927	Abnormal blood inorganic cation concentration	1186	CLCN7	ORPHA:667
HP:0010927	Abnormal blood inorganic cation concentration	1186	CLCN7	ORPHA:210110
HP:0010927	Abnormal blood inorganic cation concentration	1186	CLCN7	ORPHA:53
HP:0010927	Abnormal blood inorganic cation concentration	29887	SNX10	ORPHA:667
HP:0010927	Abnormal blood inorganic cation concentration	8600	TNFSF11	ORPHA:667
HP:0010927	Abnormal blood inorganic cation concentration	149775	GNAS-AS1	OMIM:603233
HP:0010927	Abnormal blood inorganic cation concentration	197131	UBR1	OMIM:243800
HP:0010927	Abnormal blood inorganic cation concentration	3712	IVD	ORPHA:33
HP:0010927	Abnormal blood inorganic cation concentration	1436	CSF1R	OMIM:618476
HP:0010927	Abnormal blood inorganic cation concentration	84876	ORAI1	OMIM:615883
HP:0010927	Abnormal blood inorganic cation concentration	6905	TBCE	ORPHA:2323
HP:0010927	Abnormal blood inorganic cation concentration	6905	TBCE	OMIM:241410
HP:0010927	Abnormal blood inorganic cation concentration	6905	TBCE	OMIM:244460
HP:0010927	Abnormal blood inorganic cation concentration	6905	TBCE	ORPHA:93324
HP:0010927	Abnormal blood inorganic cation concentration	120227	CYP2R1	OMIM:600081
HP:0010927	Abnormal blood inorganic cation concentration	120227	CYP2R1	ORPHA:289157
HP:0010927	Abnormal blood inorganic cation concentration	58528	RRAGD	OMIM:620152
HP:0010927	Abnormal blood inorganic cation concentration	140803	TRPM6	OMIM:602014
HP:0010927	Abnormal blood inorganic cation concentration	6023	RMRP	ORPHA:175
HP:0010927	Abnormal blood inorganic cation concentration	9247	GCM2	OMIM:618883
HP:0010927	Abnormal blood inorganic cation concentration	9247	GCM2	ORPHA:2239
HP:0010927	Abnormal blood inorganic cation concentration	6521	SLC4A1	OMIM:179800
HP:0010927	Abnormal blood inorganic cation concentration	3117	HLA-DQA1	OMIM:212750
HP:0010927	Abnormal blood inorganic cation concentration	3119	HLA-DQB1	OMIM:212750
HP:0010927	Abnormal blood inorganic cation concentration	1312	COMT	ORPHA:567
HP:0010927	Abnormal blood inorganic cation concentration	221037	JMJD1C	ORPHA:567
HP:0010927	Abnormal blood inorganic cation concentration	2812	GP1BB	ORPHA:567
HP:0010927	Abnormal blood inorganic cation concentration	6239	RREB1	ORPHA:567
HP:0010927	Abnormal blood inorganic cation concentration	6899	TBX1	ORPHA:567
HP:0010927	Abnormal blood inorganic cation concentration	6899	TBX1	OMIM:188400
HP:0010927	Abnormal blood inorganic cation concentration	6899	TBX1	OMIM:192430
HP:0010927	Abnormal blood inorganic cation concentration	7290	HIRA	ORPHA:567
HP:0010927	Abnormal blood inorganic cation concentration	9632	SEC24C	ORPHA:567
HP:0010927	Abnormal blood inorganic cation concentration	7353	UFD1	ORPHA:567
HP:0010927	Abnormal blood inorganic cation concentration	421	ARVCF	ORPHA:567
HP:0010927	Abnormal blood inorganic cation concentration	55764	IFT122	OMIM:218330
HP:0010927	Abnormal blood inorganic cation concentration	79087	ALG12	OMIM:607143
HP:0010927	Abnormal blood inorganic cation concentration	1594	CYP27B1	OMIM:264700
HP:0010927	Abnormal blood inorganic cation concentration	1594	CYP27B1	ORPHA:289157
HP:0010927	Abnormal blood inorganic cation concentration	55636	CHD7	OMIM:214800
HP:0010927	Abnormal blood inorganic cation concentration	2783	GNB2	OMIM:619503
HP:0010927	Abnormal blood inorganic cation concentration	760	CA2	ORPHA:2785
HP:0010927	Abnormal blood inorganic cation concentration	64864	RFX7	OMIM:620330
HP:0010927	Abnormal blood inorganic cation concentration	63901	FAM111A	OMIM:602361
HP:0010927	Abnormal blood inorganic cation concentration	63901	FAM111A	OMIM:127000
HP:0010927	Abnormal blood inorganic cation concentration	1576	CYP3A4	OMIM:619073
HP:0010927	Abnormal blood inorganic cation concentration	9842	PLEKHM1	ORPHA:210110
HP:0010927	Abnormal blood inorganic cation concentration	8074	FGF23	ORPHA:89937
HP:0010927	Abnormal blood inorganic cation concentration	54914	FOCAD	OMIM:619991
HP:0010927	Abnormal blood inorganic cation concentration	9508	ADAMTS3	ORPHA:2136
HP:0010927	Abnormal blood inorganic cation concentration	147372	CCBE1	ORPHA:2136
HP:0010927	Abnormal blood inorganic cation concentration	79633	FAT4	ORPHA:2136
HP:0010927	Abnormal blood inorganic cation concentration	3032	HADHB	ORPHA:746
HP:0010927	Abnormal blood inorganic cation concentration	3030	HADHA	ORPHA:746
HP:0010927	Abnormal blood inorganic cation concentration	10056	FARSB	OMIM:613658
HP:0010927	Abnormal blood inorganic cation concentration	130340	AP1S3	ORPHA:247353
HP:0010927	Abnormal blood inorganic cation concentration	26525	IL36RN	ORPHA:247353
HP:0010927	Abnormal blood inorganic cation concentration	54487	DGCR8	OMIM:192430
HP:0010927	Abnormal blood inorganic cation concentration	8214	DGCR6	OMIM:192430
HP:0010927	Abnormal blood inorganic cation concentration	8220	ESS2	OMIM:192430
HP:0010927	Abnormal blood inorganic cation concentration	9993	DGCR2	OMIM:192430
HP:0010927	Abnormal blood inorganic cation concentration	84033	OBSCN	ORPHA:99845
HP:0010927	Abnormal blood inorganic cation concentration	23175	LPIN1	ORPHA:99845
HP:0010927	Abnormal blood inorganic cation concentration	4512	MT-CO1	ORPHA:99845
HP:0010927	Abnormal blood inorganic cation concentration	4514	MT-CO3	ORPHA:99845
HP:0010927	Abnormal blood inorganic cation concentration	5495	PPM1B	ORPHA:163693
HP:0010927	Abnormal blood inorganic cation concentration	6519	SLC3A1	ORPHA:163693
HP:0010927	Abnormal blood inorganic cation concentration	9581	PREPL	ORPHA:163693
HP:0010927	Abnormal blood inorganic cation concentration	79823	CAMKMT	ORPHA:163693
HP:0010927	Abnormal blood inorganic cation concentration	695	BTK	ORPHA:47
HP:0010927	Abnormal blood inorganic cation concentration	775	CACNA1C	OMIM:601005
HP:0010927	Abnormal blood inorganic cation concentration	5286	PIK3C2A	OMIM:618440
HP:0010927	Abnormal blood inorganic cation concentration	5286	PIK3C2A	ORPHA:557003
HP:0010927	Abnormal blood inorganic cation concentration	2625	GATA3	ORPHA:2237
HP:0010927	Abnormal blood inorganic cation concentration	50943	FOXP3	ORPHA:37042
HP:0010927	Abnormal blood inorganic cation concentration	5741	PTH	OMIM:146200
HP:0010927	Abnormal blood inorganic cation concentration	50628	GEMIN4	OMIM:617913
HP:0010927	Abnormal blood inorganic cation concentration	54532	USP53	OMIM:619658
HP:0010927	Abnormal blood inorganic cation concentration	28962	OSTM1	OMIM:259720
HP:0010927	Abnormal blood inorganic cation concentration	37	ACADVL	ORPHA:26793
HP:0010927	Abnormal blood inorganic cation concentration	406932	MIR140	OMIM:618618
HP:0010927	Abnormal blood inorganic cation concentration	1497	CTNS	ORPHA:411634
HP:0010927	Abnormal blood inorganic cation concentration	1188	CLCNKB	ORPHA:358
HP:0010927	Abnormal blood inorganic cation concentration	6559	SLC12A3	ORPHA:358
HP:0010927	Abnormal blood inorganic cation concentration	7809	BSND	ORPHA:89938
HP:0010927	Abnormal blood inorganic cation concentration	1187	CLCNKA	ORPHA:89938
HP:0010927	Abnormal blood inorganic cation concentration	486	FXYD2	OMIM:154020
HP:0010927	Abnormal blood inorganic cation concentration	1621	DBH	OMIM:223360
HP:0010927	Abnormal blood inorganic cation concentration	3766	KCNJ10	OMIM:612780
HP:0010927	Abnormal blood inorganic cation concentration	3766	KCNJ10	ORPHA:199343
HP:0010927	Abnormal blood inorganic cation concentration	476	ATP1A1	ORPHA:564178
HP:0010927	Abnormal blood inorganic cation concentration	476	ATP1A1	OMIM:618314
HP:0010927	Abnormal blood inorganic cation concentration	100134444	KCNJ18	ORPHA:79102
HP:0010927	Abnormal blood inorganic cation concentration	2556	GABRA3	ORPHA:79102
HP:0010927	Abnormal blood inorganic cation concentration	779	CACNA1S	ORPHA:79102
HP:0010927	Abnormal blood inorganic cation concentration	1950	EGF	OMIM:611718
HP:0010927	Abnormal blood inorganic cation concentration	5442	POLRMT	OMIM:619743
HP:0010927	Abnormal blood inorganic cation concentration	3758	KCNJ1	OMIM:241200
HP:0010927	Abnormal blood inorganic cation concentration	54805	CNNM2	OMIM:613882
HP:0010927	Abnormal blood inorganic cation concentration	54805	CNNM2	OMIM:616418
HP:0010927	Abnormal blood inorganic cation concentration	54938	SARS2	OMIM:613845
HP:0010927	Abnormal blood inorganic cation concentration	7074	TIAM1	OMIM:619908
HP:0010927	Abnormal blood inorganic cation concentration	5092	PCBD1	ORPHA:1578
HP:0010927	Abnormal blood inorganic cation concentration	9071	CLDN10	OMIM:617671
HP:0010927	Abnormal blood inorganic cation concentration	229	ALDOB	ORPHA:469
HP:0010927	Abnormal blood inorganic cation concentration	3939	LDHA	ORPHA:284426
HP:0010927	Abnormal blood inorganic cation concentration	595	CCND1	ORPHA:29073
HP:0010927	Abnormal blood inorganic cation concentration	51604	PIGT	ORPHA:369837
HP:0010927	Abnormal blood inorganic cation concentration	6569	SLC34A1	OMIM:616963
HP:0010927	Abnormal blood inorganic cation concentration	55654	TMEM127	OMIM:171300
HP:0010927	Abnormal blood inorganic cation concentration	55654	TMEM127	ORPHA:29072
HP:0010927	Abnormal blood inorganic cation concentration	4149	MAX	OMIM:171300
HP:0010927	Abnormal blood inorganic cation concentration	4149	MAX	ORPHA:29072
HP:0010927	Abnormal blood inorganic cation concentration	5979	RET	OMIM:171300
HP:0010927	Abnormal blood inorganic cation concentration	5979	RET	ORPHA:29072
HP:0010927	Abnormal blood inorganic cation concentration	5979	RET	ORPHA:276621
HP:0010927	Abnormal blood inorganic cation concentration	7428	VHL	OMIM:171300
HP:0010927	Abnormal blood inorganic cation concentration	7428	VHL	ORPHA:29072
HP:0010927	Abnormal blood inorganic cation concentration	7428	VHL	ORPHA:276621
HP:0010927	Abnormal blood inorganic cation concentration	1743	DLST	ORPHA:29072
HP:0010927	Abnormal blood inorganic cation concentration	4191	MDH2	ORPHA:29072
HP:0010927	Abnormal blood inorganic cation concentration	6389	SDHA	ORPHA:29072
HP:0010927	Abnormal blood inorganic cation concentration	23095	KIF1B	ORPHA:29072
HP:0010927	Abnormal blood inorganic cation concentration	2271	FH	ORPHA:29072
HP:0010927	Abnormal blood inorganic cation concentration	8402	SLC25A11	ORPHA:29072
HP:0010927	Abnormal blood inorganic cation concentration	54949	SDHAF2	ORPHA:29072
HP:0010927	Abnormal blood inorganic cation concentration	4763	NF1	ORPHA:29072
HP:0010927	Abnormal blood inorganic cation concentration	6391	SDHC	ORPHA:29072
HP:0010927	Abnormal blood inorganic cation concentration	6392	SDHD	ORPHA:29072
HP:0010927	Abnormal blood inorganic cation concentration	6392	SDHD	ORPHA:276621
HP:0010927	Abnormal blood inorganic cation concentration	6390	SDHB	ORPHA:29072
HP:0010927	Abnormal blood inorganic cation concentration	6390	SDHB	ORPHA:276621
HP:0010927	Abnormal blood inorganic cation concentration	6804	STX1A	ORPHA:904
HP:0010927	Abnormal blood inorganic cation concentration	7461	CLIP2	ORPHA:904
HP:0010927	Abnormal blood inorganic cation concentration	84277	DNAJC30	ORPHA:904
HP:0010927	Abnormal blood inorganic cation concentration	8468	FKBP6	ORPHA:904
HP:0010927	Abnormal blood inorganic cation concentration	5982	RFC2	ORPHA:904
HP:0010927	Abnormal blood inorganic cation concentration	2969	GTF2I	ORPHA:904
HP:0010927	Abnormal blood inorganic cation concentration	3984	LIMK1	ORPHA:904
HP:0010927	Abnormal blood inorganic cation concentration	9569	GTF2IRD1	ORPHA:904
HP:0010927	Abnormal blood inorganic cation concentration	155382	VPS37D	ORPHA:904
HP:0010927	Abnormal blood inorganic cation concentration	155368	METTL27	ORPHA:904
HP:0010927	Abnormal blood inorganic cation concentration	114049	BUD23	ORPHA:904
HP:0010927	Abnormal blood inorganic cation concentration	7458	EIF4H	ORPHA:904
HP:0010927	Abnormal blood inorganic cation concentration	84163	GTF2IRD2	ORPHA:904
HP:0010927	Abnormal blood inorganic cation concentration	26608	TBL2	ORPHA:904
HP:0010927	Abnormal blood inorganic cation concentration	653361	NCF1	ORPHA:904
HP:0010927	Abnormal blood inorganic cation concentration	135886	TMEM270	ORPHA:904
HP:0010927	Abnormal blood inorganic cation concentration	9031	BAZ1B	ORPHA:904
HP:0010927	Abnormal blood inorganic cation concentration	2006	ELN	ORPHA:904
HP:0010927	Abnormal blood inorganic cation concentration	2006	ELN	OMIM:194050
HP:0010927	Abnormal blood inorganic cation concentration	596	BCL2	ORPHA:545
HP:0010927	Abnormal blood inorganic cation concentration	3492	IGH	ORPHA:545
HP:0010927	Abnormal blood inorganic cation concentration	3123	HLA-DRB1	ORPHA:545
HP:0010927	Abnormal blood inorganic cation concentration	3123	HLA-DRB1	ORPHA:797
HP:0010927	Abnormal blood inorganic cation concentration	604	BCL6	ORPHA:545
HP:0010927	Abnormal blood inorganic cation concentration	64324	NSD1	ORPHA:821
HP:0010927	Abnormal blood inorganic cation concentration	10297	APC2	ORPHA:821
HP:0010927	Abnormal blood inorganic cation concentration	79577	CDC73	ORPHA:143
HP:0010927	Abnormal blood inorganic cation concentration	79577	CDC73	OMIM:145000
HP:0010927	Abnormal blood inorganic cation concentration	79577	CDC73	OMIM:145001
HP:0010927	Abnormal blood inorganic cation concentration	79577	CDC73	ORPHA:99880
HP:0010927	Abnormal blood inorganic cation concentration	79577	CDC73	ORPHA:99879
HP:0010927	Abnormal blood inorganic cation concentration	79577	CDC73	OMIM:608266
HP:0010927	Abnormal blood inorganic cation concentration	249	ALPL	OMIM:241500
HP:0010927	Abnormal blood inorganic cation concentration	7204	TRIO	ORPHA:476126
HP:0010927	Abnormal blood inorganic cation concentration	6523	SLC5A1	ORPHA:35710
HP:0010927	Abnormal blood inorganic cation concentration	51085	MLXIPL	OMIM:194050
HP:0010927	Abnormal blood inorganic cation concentration	5978	REST	ORPHA:654
HP:0010927	Abnormal blood inorganic cation concentration	129563	DIS3L2	ORPHA:654
HP:0010927	Abnormal blood inorganic cation concentration	675	BRCA2	ORPHA:654
HP:0010927	Abnormal blood inorganic cation concentration	9319	TRIP13	ORPHA:654
HP:0010927	Abnormal blood inorganic cation concentration	7490	WT1	ORPHA:654
HP:0010927	Abnormal blood inorganic cation concentration	10155	TRIM28	ORPHA:654
HP:0010927	Abnormal blood inorganic cation concentration	11281	POU6F2	ORPHA:654
HP:0010927	Abnormal blood inorganic cation concentration	2719	GPC3	ORPHA:654
HP:0010927	Abnormal blood inorganic cation concentration	283120	H19	ORPHA:654
HP:0010927	Abnormal blood inorganic cation concentration	4221	MEN1	ORPHA:652
HP:0010927	Abnormal blood inorganic cation concentration	4221	MEN1	OMIM:131100
HP:0010927	Abnormal blood inorganic cation concentration	4221	MEN1	ORPHA:99879
HP:0010927	Abnormal blood inorganic cation concentration	1027	CDKN1B	ORPHA:652
HP:0010927	Abnormal blood inorganic cation concentration	1027	CDKN1B	ORPHA:276152
HP:0010927	Abnormal blood inorganic cation concentration	1026	CDKN1A	ORPHA:652
HP:0010927	Abnormal blood inorganic cation concentration	1030	CDKN2B	ORPHA:652
HP:0010927	Abnormal blood inorganic cation concentration	1031	CDKN2C	ORPHA:652
HP:0010927	Abnormal blood inorganic cation concentration	4854	NOTCH3	ORPHA:2591
HP:0010927	Abnormal blood inorganic cation concentration	5745	PTH1R	OMIM:156400
HP:0010927	Abnormal blood inorganic cation concentration	9365	KL	OMIM:617994
HP:0010927	Abnormal blood inorganic cation concentration	56172	ANKH	OMIM:123000
HP:0010927	Abnormal blood inorganic cation concentration	2591	GALNT3	OMIM:211900
HP:0010927	Abnormal blood inorganic cation concentration	1788	DNMT3A	ORPHA:276621
HP:0010927	Abnormal blood inorganic cation concentration	2034	EPAS1	ORPHA:276621
HP:0010927	Abnormal blood inorganic cation concentration	6557	SLC12A1	OMIM:601678
HP:0010927	Abnormal blood inorganic cation concentration	1175	AP2S1	OMIM:600740
HP:0010927	Abnormal blood inorganic cation concentration	7543	ZFX	OMIM:301118
HP:0010927	Abnormal blood inorganic cation concentration	1591	CYP24A1	OMIM:143880
HP:0010927	Abnormal blood inorganic cation concentration	8792	TNFRSF11A	OMIM:602080
HP:0010927	Abnormal blood inorganic cation concentration	1028	CDKN1C	OMIM:614732
HP:0010927	Abnormal blood inorganic cation concentration	78987	CRELD1	OMIM:620771
HP:0010927	Abnormal blood inorganic cation concentration	56244	BTNL2	ORPHA:797
HP:0010927	Abnormal blood inorganic cation concentration	326	AIRE	OMIM:240300
HP:0010927	Abnormal blood inorganic cation concentration	1758	DMP1	ORPHA:289176
HP:0010927	Abnormal blood inorganic cation concentration	5167	ENPP1	ORPHA:289176
HP:0010927	Abnormal blood inorganic cation concentration	8456	FOXN1	ORPHA:83471
HP:0010927	Abnormal blood inorganic cation concentration	149461	CLDN19	OMIM:248190
HP:0010927	Abnormal blood inorganic cation concentration	5251	PHEX	OMIM:307800
HP:0010927	Abnormal blood inorganic cation concentration	7227	TRPS1	OMIM:190350
HP:0010927	Abnormal blood inorganic cation concentration	10686	CLDN16	OMIM:248250
HP:0010927	Abnormal blood inorganic cation concentration	54809	SAMD9	OMIM:610455
HP:0010927	Abnormal blood inorganic cation concentration	129607	CMPK2	OMIM:621018
HP:0010927	Abnormal blood inorganic cation concentration	6575	SLC20A2	OMIM:213600
HP:0010927	Abnormal blood inorganic cation concentration	5159	PDGFRB	OMIM:213600
HP:0010927	Abnormal blood inorganic cation concentration	5155	PDGFB	OMIM:213600
HP:0010927	Abnormal blood inorganic cation concentration	55811	ADCY10	ORPHA:2197
HP:0010927	Abnormal blood inorganic cation concentration	79879	CCDC134	OMIM:619795
HP:0010927	Abnormal blood inorganic cation concentration	10568	SLC34A2	ORPHA:60025
HP:0010927	Abnormal blood inorganic cation concentration	142680	SLC34A3	OMIM:241530
HP:0010927	Abnormal blood inorganic cation concentration	55151	TMEM38B	OMIM:615066
HP:0010927	Abnormal blood inorganic cation concentration	55532	SLC30A10	ORPHA:309854
HP:0010927	Abnormal blood inorganic cation concentration	23516	SLC39A14	ORPHA:521406
HP:0010927	Abnormal blood inorganic cation concentration	23516	SLC39A14	OMIM:617013
HP:0010927	Abnormal blood inorganic cation concentration	64116	SLC39A8	ORPHA:468699
HP:0003218	Oroticaciduria	435	ASL	ORPHA:23
HP:0003218	Oroticaciduria	435	ASL	OMIM:207900
HP:0003218	Oroticaciduria	9056	SLC7A7	OMIM:222700
HP:0003218	Oroticaciduria	9056	SLC7A7	ORPHA:470
HP:0003218	Oroticaciduria	5009	OTC	ORPHA:664
HP:0003218	Oroticaciduria	5009	OTC	OMIM:311250
HP:0003218	Oroticaciduria	7372	UMPS	ORPHA:30
HP:0003218	Oroticaciduria	7372	UMPS	OMIM:258900
HP:0003218	Oroticaciduria	790	CAD	OMIM:616457
HP:0003218	Oroticaciduria	383	ARG1	OMIM:207800
HP:0003218	Oroticaciduria	445	ASS1	OMIM:215700
HP:0003218	Oroticaciduria	498	ATP5F1A	OMIM:620358
HP:0003218	Oroticaciduria	10166	SLC25A15	ORPHA:415
HP:0010929	Abnormal blood cation concentration	29927	SEC61A1	OMIM:617056
HP:0010929	Abnormal blood cation concentration	10058	ABCB6	ORPHA:90044
HP:0010929	Abnormal blood cation concentration	10058	ABCB6	OMIM:609153
HP:0010929	Abnormal blood cation concentration	6513	SLC2A1	OMIM:608885
HP:0010929	Abnormal blood cation concentration	10463	SLC30A9	OMIM:617595
HP:0010929	Abnormal blood cation concentration	11232	POLG2	OMIM:618528
HP:0010929	Abnormal blood cation concentration	6522	SLC4A2	OMIM:620366
HP:0010929	Abnormal blood cation concentration	226	ALDOA	ORPHA:57
HP:0010929	Abnormal blood cation concentration	65266	WNK4	OMIM:614491
HP:0010929	Abnormal blood cation concentration	65125	WNK1	OMIM:614492
HP:0010929	Abnormal blood cation concentration	26249	KLHL3	OMIM:614495
HP:0010929	Abnormal blood cation concentration	8452	CUL3	OMIM:614496
HP:0010929	Abnormal blood cation concentration	27130	INVS	OMIM:602088
HP:0010929	Abnormal blood cation concentration	435	ASL	ORPHA:23
HP:0010929	Abnormal blood cation concentration	5311	PKD2	OMIM:613095
HP:0010929	Abnormal blood cation concentration	776	CACNA1D	OMIM:615474
HP:0010929	Abnormal blood cation concentration	776	CACNA1D	ORPHA:369929
HP:0010929	Abnormal blood cation concentration	3643	INSR	ORPHA:508
HP:0010929	Abnormal blood cation concentration	3643	INSR	ORPHA:769
HP:0010929	Abnormal blood cation concentration	3291	HSD11B2	OMIM:218030
HP:0010929	Abnormal blood cation concentration	3291	HSD11B2	ORPHA:320
HP:0010929	Abnormal blood cation concentration	2908	NR3C1	ORPHA:786
HP:0010929	Abnormal blood cation concentration	6514	SLC2A2	OMIM:227810
HP:0010929	Abnormal blood cation concentration	2628	GATM	OMIM:134600
HP:0010929	Abnormal blood cation concentration	2628	GATM	ORPHA:3337
HP:0010929	Abnormal blood cation concentration	1584	CYP11B1	OMIM:202010
HP:0010929	Abnormal blood cation concentration	1584	CYP11B1	ORPHA:90795
HP:0010929	Abnormal blood cation concentration	1584	CYP11B1	ORPHA:403
HP:0010929	Abnormal blood cation concentration	866	SERPINA6	OMIM:611489
HP:0010929	Abnormal blood cation concentration	1586	CYP17A1	ORPHA:90793
HP:0010929	Abnormal blood cation concentration	1962	EHHADH	ORPHA:3337
HP:0010929	Abnormal blood cation concentration	137682	NDUFAF6	ORPHA:3337
HP:0010929	Abnormal blood cation concentration	801	CALM1	ORPHA:101016
HP:0010929	Abnormal blood cation concentration	3753	KCNE1	ORPHA:101016
HP:0010929	Abnormal blood cation concentration	3762	KCNJ5	ORPHA:101016
HP:0010929	Abnormal blood cation concentration	3762	KCNJ5	OMIM:613677
HP:0010929	Abnormal blood cation concentration	3762	KCNJ5	ORPHA:251274
HP:0010929	Abnormal blood cation concentration	805	CALM2	ORPHA:101016
HP:0010929	Abnormal blood cation concentration	6910	TBX5	ORPHA:101016
HP:0010929	Abnormal blood cation concentration	6336	SCN10A	ORPHA:101016
HP:0010929	Abnormal blood cation concentration	3757	KCNH2	ORPHA:101016
HP:0010929	Abnormal blood cation concentration	9992	KCNE2	ORPHA:101016
HP:0010929	Abnormal blood cation concentration	10142	AKAP9	ORPHA:101016
HP:0010929	Abnormal blood cation concentration	9722	NOS1AP	ORPHA:101016
HP:0010929	Abnormal blood cation concentration	3784	KCNQ1	ORPHA:101016
HP:0010929	Abnormal blood cation concentration	10345	TRDN	ORPHA:101016
HP:0010929	Abnormal blood cation concentration	6331	SCN5A	ORPHA:101016
HP:0010929	Abnormal blood cation concentration	6330	SCN4B	ORPHA:101016
HP:0010929	Abnormal blood cation concentration	808	CALM3	ORPHA:101016
HP:0010929	Abnormal blood cation concentration	6640	SNTA1	ORPHA:101016
HP:0010929	Abnormal blood cation concentration	859	CAV3	ORPHA:101016
HP:0010929	Abnormal blood cation concentration	287	ANK2	ORPHA:101016
HP:0010929	Abnormal blood cation concentration	8671	SLC4A4	OMIM:604278
HP:0010929	Abnormal blood cation concentration	55898	UNC45A	OMIM:619377
HP:0010929	Abnormal blood cation concentration	657	BMPR1A	OMIM:174900
HP:0010929	Abnormal blood cation concentration	4089	SMAD4	OMIM:174900
HP:0010929	Abnormal blood cation concentration	50619	DEF6	OMIM:619573
HP:0010929	Abnormal blood cation concentration	3759	KCNJ2	OMIM:170390
HP:0010929	Abnormal blood cation concentration	1181	CLCN2	ORPHA:404
HP:0010929	Abnormal blood cation concentration	1181	CLCN2	OMIM:605635
HP:0010929	Abnormal blood cation concentration	84133	ZNRF3	ORPHA:1501
HP:0010929	Abnormal blood cation concentration	7157	TP53	ORPHA:1501
HP:0010929	Abnormal blood cation concentration	5573	PRKAR1A	ORPHA:1501
HP:0010929	Abnormal blood cation concentration	1499	CTNNB1	ORPHA:1501
HP:0010929	Abnormal blood cation concentration	1029	CDKN2A	ORPHA:1501
HP:0010929	Abnormal blood cation concentration	7015	TERT	ORPHA:1501
HP:0010929	Abnormal blood cation concentration	50617	ATP6V0A4	OMIM:602722
HP:0010929	Abnormal blood cation concentration	1281	COL3A1	ORPHA:286
HP:0010929	Abnormal blood cation concentration	64072	CDH23	ORPHA:91347
HP:0010929	Abnormal blood cation concentration	9049	AIP	OMIM:219090
HP:0010929	Abnormal blood cation concentration	9101	USP8	OMIM:219090
HP:0010929	Abnormal blood cation concentration	83483	PLVAP	OMIM:618183
HP:0010929	Abnormal blood cation concentration	7421	VDR	ORPHA:93160
HP:0010929	Abnormal blood cation concentration	10312	TCIRG1	OMIM:259700
HP:0010929	Abnormal blood cation concentration	10312	TCIRG1	ORPHA:667
HP:0010929	Abnormal blood cation concentration	10312	TCIRG1	ORPHA:210110
HP:0010929	Abnormal blood cation concentration	857	CAV1	OMIM:612526
HP:0010929	Abnormal blood cation concentration	2767	GNA11	ORPHA:428
HP:0010929	Abnormal blood cation concentration	2767	GNA11	OMIM:615361
HP:0010929	Abnormal blood cation concentration	846	CASR	ORPHA:428
HP:0010929	Abnormal blood cation concentration	846	CASR	OMIM:601198
HP:0010929	Abnormal blood cation concentration	6261	RYR1	ORPHA:466650
HP:0010929	Abnormal blood cation concentration	2778	GNAS	ORPHA:94089
HP:0010929	Abnormal blood cation concentration	2778	GNAS	OMIM:603233
HP:0010929	Abnormal blood cation concentration	2778	GNAS	OMIM:612462
HP:0010929	Abnormal blood cation concentration	2778	GNAS	ORPHA:79443
HP:0010929	Abnormal blood cation concentration	2778	GNAS	ORPHA:79444
HP:0010929	Abnormal blood cation concentration	2778	GNAS	ORPHA:79445
HP:0010929	Abnormal blood cation concentration	8675	STX16	ORPHA:94089
HP:0010929	Abnormal blood cation concentration	8675	STX16	OMIM:603233
HP:0010929	Abnormal blood cation concentration	1186	CLCN7	ORPHA:667
HP:0010929	Abnormal blood cation concentration	1186	CLCN7	ORPHA:210110
HP:0010929	Abnormal blood cation concentration	1186	CLCN7	ORPHA:53
HP:0010929	Abnormal blood cation concentration	29887	SNX10	ORPHA:667
HP:0010929	Abnormal blood cation concentration	8600	TNFSF11	ORPHA:667
HP:0010929	Abnormal blood cation concentration	149775	GNAS-AS1	OMIM:603233
HP:0010929	Abnormal blood cation concentration	197131	UBR1	OMIM:243800
HP:0010929	Abnormal blood cation concentration	3712	IVD	ORPHA:33
HP:0010929	Abnormal blood cation concentration	1436	CSF1R	OMIM:618476
HP:0010929	Abnormal blood cation concentration	84876	ORAI1	OMIM:615883
HP:0010929	Abnormal blood cation concentration	6905	TBCE	ORPHA:2323
HP:0010929	Abnormal blood cation concentration	6905	TBCE	OMIM:241410
HP:0010929	Abnormal blood cation concentration	6905	TBCE	OMIM:244460
HP:0010929	Abnormal blood cation concentration	6905	TBCE	ORPHA:93324
HP:0010929	Abnormal blood cation concentration	120227	CYP2R1	OMIM:600081
HP:0010929	Abnormal blood cation concentration	120227	CYP2R1	ORPHA:289157
HP:0010929	Abnormal blood cation concentration	58528	RRAGD	OMIM:620152
HP:0010929	Abnormal blood cation concentration	140803	TRPM6	OMIM:602014
HP:0010929	Abnormal blood cation concentration	6023	RMRP	ORPHA:175
HP:0010929	Abnormal blood cation concentration	9247	GCM2	OMIM:618883
HP:0010929	Abnormal blood cation concentration	9247	GCM2	ORPHA:2239
HP:0010929	Abnormal blood cation concentration	3117	HLA-DQA1	OMIM:212750
HP:0010929	Abnormal blood cation concentration	3119	HLA-DQB1	OMIM:212750
HP:0010929	Abnormal blood cation concentration	1312	COMT	ORPHA:567
HP:0010929	Abnormal blood cation concentration	221037	JMJD1C	ORPHA:567
HP:0010929	Abnormal blood cation concentration	2812	GP1BB	ORPHA:567
HP:0010929	Abnormal blood cation concentration	6239	RREB1	ORPHA:567
HP:0010929	Abnormal blood cation concentration	6899	TBX1	ORPHA:567
HP:0010929	Abnormal blood cation concentration	6899	TBX1	OMIM:188400
HP:0010929	Abnormal blood cation concentration	6899	TBX1	OMIM:192430
HP:0010929	Abnormal blood cation concentration	7290	HIRA	ORPHA:567
HP:0010929	Abnormal blood cation concentration	9632	SEC24C	ORPHA:567
HP:0010929	Abnormal blood cation concentration	7353	UFD1	ORPHA:567
HP:0010929	Abnormal blood cation concentration	421	ARVCF	ORPHA:567
HP:0010929	Abnormal blood cation concentration	55764	IFT122	OMIM:218330
HP:0010929	Abnormal blood cation concentration	79087	ALG12	OMIM:607143
HP:0010929	Abnormal blood cation concentration	1594	CYP27B1	OMIM:264700
HP:0010929	Abnormal blood cation concentration	1594	CYP27B1	ORPHA:289157
HP:0010929	Abnormal blood cation concentration	55636	CHD7	OMIM:214800
HP:0010929	Abnormal blood cation concentration	2783	GNB2	OMIM:619503
HP:0010929	Abnormal blood cation concentration	760	CA2	ORPHA:2785
HP:0010929	Abnormal blood cation concentration	64864	RFX7	OMIM:620330
HP:0010929	Abnormal blood cation concentration	63901	FAM111A	OMIM:602361
HP:0010929	Abnormal blood cation concentration	63901	FAM111A	OMIM:127000
HP:0010929	Abnormal blood cation concentration	1576	CYP3A4	OMIM:619073
HP:0010929	Abnormal blood cation concentration	9842	PLEKHM1	ORPHA:210110
HP:0010929	Abnormal blood cation concentration	8074	FGF23	ORPHA:89937
HP:0010929	Abnormal blood cation concentration	54914	FOCAD	OMIM:619991
HP:0010929	Abnormal blood cation concentration	9508	ADAMTS3	ORPHA:2136
HP:0010929	Abnormal blood cation concentration	147372	CCBE1	ORPHA:2136
HP:0010929	Abnormal blood cation concentration	79633	FAT4	ORPHA:2136
HP:0010929	Abnormal blood cation concentration	3032	HADHB	ORPHA:746
HP:0010929	Abnormal blood cation concentration	3030	HADHA	ORPHA:746
HP:0010929	Abnormal blood cation concentration	10056	FARSB	OMIM:613658
HP:0010929	Abnormal blood cation concentration	130340	AP1S3	ORPHA:247353
HP:0010929	Abnormal blood cation concentration	26525	IL36RN	ORPHA:247353
HP:0010929	Abnormal blood cation concentration	54487	DGCR8	OMIM:192430
HP:0010929	Abnormal blood cation concentration	8214	DGCR6	OMIM:192430
HP:0010929	Abnormal blood cation concentration	8220	ESS2	OMIM:192430
HP:0010929	Abnormal blood cation concentration	9993	DGCR2	OMIM:192430
HP:0010929	Abnormal blood cation concentration	84033	OBSCN	ORPHA:99845
HP:0010929	Abnormal blood cation concentration	23175	LPIN1	ORPHA:99845
HP:0010929	Abnormal blood cation concentration	4512	MT-CO1	ORPHA:99845
HP:0010929	Abnormal blood cation concentration	4514	MT-CO3	ORPHA:99845
HP:0010929	Abnormal blood cation concentration	5495	PPM1B	ORPHA:163693
HP:0010929	Abnormal blood cation concentration	6519	SLC3A1	ORPHA:163693
HP:0010929	Abnormal blood cation concentration	9581	PREPL	ORPHA:163693
HP:0010929	Abnormal blood cation concentration	79823	CAMKMT	ORPHA:163693
HP:0010929	Abnormal blood cation concentration	695	BTK	ORPHA:47
HP:0010929	Abnormal blood cation concentration	775	CACNA1C	OMIM:601005
HP:0010929	Abnormal blood cation concentration	5286	PIK3C2A	OMIM:618440
HP:0010929	Abnormal blood cation concentration	5286	PIK3C2A	ORPHA:557003
HP:0010929	Abnormal blood cation concentration	2625	GATA3	ORPHA:2237
HP:0010929	Abnormal blood cation concentration	50943	FOXP3	ORPHA:37042
HP:0010929	Abnormal blood cation concentration	5741	PTH	OMIM:146200
HP:0010929	Abnormal blood cation concentration	50628	GEMIN4	OMIM:617913
HP:0010929	Abnormal blood cation concentration	54532	USP53	OMIM:619658
HP:0010929	Abnormal blood cation concentration	28962	OSTM1	OMIM:259720
HP:0010929	Abnormal blood cation concentration	37	ACADVL	ORPHA:26793
HP:0010929	Abnormal blood cation concentration	406932	MIR140	OMIM:618618
HP:0010929	Abnormal blood cation concentration	1497	CTNS	ORPHA:411634
HP:0010929	Abnormal blood cation concentration	1188	CLCNKB	ORPHA:358
HP:0010929	Abnormal blood cation concentration	6559	SLC12A3	ORPHA:358
HP:0010929	Abnormal blood cation concentration	5076	PAX2	ORPHA:97362
HP:0010929	Abnormal blood cation concentration	5087	PBX1	ORPHA:97362
HP:0010929	Abnormal blood cation concentration	4791	NFKB2	ORPHA:293978
HP:0010929	Abnormal blood cation concentration	5447	POR	OMIM:201750
HP:0010929	Abnormal blood cation concentration	8518	ELP1	ORPHA:1764
HP:0010929	Abnormal blood cation concentration	8021	NUP214	OMIM:618426
HP:0010929	Abnormal blood cation concentration	10102	TSFM	OMIM:610505
HP:0010929	Abnormal blood cation concentration	5551	PRF1	OMIM:603553
HP:0010929	Abnormal blood cation concentration	190	NR0B1	OMIM:300200
HP:0010929	Abnormal blood cation concentration	190	NR0B1	ORPHA:95702
HP:0010929	Abnormal blood cation concentration	6340	SCNN1G	ORPHA:171876
HP:0010929	Abnormal blood cation concentration	6340	SCNN1G	OMIM:620126
HP:0010929	Abnormal blood cation concentration	6337	SCNN1A	ORPHA:171876
HP:0010929	Abnormal blood cation concentration	6337	SCNN1A	OMIM:264350
HP:0010929	Abnormal blood cation concentration	6338	SCNN1B	ORPHA:171876
HP:0010929	Abnormal blood cation concentration	6338	SCNN1B	OMIM:620125
HP:0010929	Abnormal blood cation concentration	4306	NR3C2	OMIM:177735
HP:0010929	Abnormal blood cation concentration	1811	SLC26A3	OMIM:214700
HP:0010929	Abnormal blood cation concentration	29072	SETD2	OMIM:620157
HP:0010929	Abnormal blood cation concentration	29072	SETD2	OMIM:620155
HP:0010929	Abnormal blood cation concentration	3662	IRF4	ORPHA:3452
HP:0010929	Abnormal blood cation concentration	471	ATIC	OMIM:608688
HP:0010929	Abnormal blood cation concentration	3284	HSD3B2	ORPHA:90791
HP:0010929	Abnormal blood cation concentration	3284	HSD3B2	OMIM:201810
HP:0010929	Abnormal blood cation concentration	4952	OCRL	ORPHA:534
HP:0010929	Abnormal blood cation concentration	199221	DZIP1L	ORPHA:731
HP:0010929	Abnormal blood cation concentration	5314	PKHD1	ORPHA:731
HP:0010929	Abnormal blood cation concentration	771	CA12	OMIM:143860
HP:0010929	Abnormal blood cation concentration	10916	MAGED2	OMIM:300971
HP:0010929	Abnormal blood cation concentration	9095	TBX19	ORPHA:199296
HP:0010929	Abnormal blood cation concentration	210	ALAD	ORPHA:100924
HP:0010929	Abnormal blood cation concentration	554	AVPR2	OMIM:300539
HP:0010929	Abnormal blood cation concentration	1583	CYP11A1	ORPHA:168558
HP:0010929	Abnormal blood cation concentration	1583	CYP11A1	ORPHA:289548
HP:0010929	Abnormal blood cation concentration	1585	CYP11B2	OMIM:203400
HP:0010929	Abnormal blood cation concentration	1585	CYP11B2	OMIM:610600
HP:0010929	Abnormal blood cation concentration	1585	CYP11B2	ORPHA:556030
HP:0010929	Abnormal blood cation concentration	51567	TDP2	OMIM:616949
HP:0010929	Abnormal blood cation concentration	9451	EIF2AK3	ORPHA:1667
HP:0010929	Abnormal blood cation concentration	79053	ALG8	ORPHA:79325
HP:0010929	Abnormal blood cation concentration	1130	LYST	ORPHA:167
HP:0010929	Abnormal blood cation concentration	56246	MRAP	ORPHA:361
HP:0010929	Abnormal blood cation concentration	6770	STAR	ORPHA:361
HP:0010929	Abnormal blood cation concentration	4158	MC2R	ORPHA:361
HP:0010929	Abnormal blood cation concentration	23530	NNT	ORPHA:361
HP:0010929	Abnormal blood cation concentration	23530	NNT	OMIM:614736
HP:0010929	Abnormal blood cation concentration	10587	TXNRD2	ORPHA:361
HP:0010929	Abnormal blood cation concentration	4714	NDUFB8	OMIM:618252
HP:0010929	Abnormal blood cation concentration	1371	CPOX	ORPHA:79273
HP:0010929	Abnormal blood cation concentration	5498	PPOX	ORPHA:79473
HP:0010929	Abnormal blood cation concentration	3145	HMBS	ORPHA:79276
HP:0010929	Abnormal blood cation concentration	7187	TRAF3	ORPHA:1930
HP:0010929	Abnormal blood cation concentration	81622	UNC93B1	ORPHA:1930
HP:0010929	Abnormal blood cation concentration	148022	TICAM1	ORPHA:1930
HP:0010929	Abnormal blood cation concentration	7098	TLR3	ORPHA:1930
HP:0010929	Abnormal blood cation concentration	29110	TBK1	ORPHA:1930
HP:0010929	Abnormal blood cation concentration	7809	BSND	ORPHA:89938
HP:0010929	Abnormal blood cation concentration	1187	CLCNKA	ORPHA:89938
HP:0010929	Abnormal blood cation concentration	486	FXYD2	OMIM:154020
HP:0010929	Abnormal blood cation concentration	1621	DBH	OMIM:223360
HP:0010929	Abnormal blood cation concentration	3766	KCNJ10	OMIM:612780
HP:0010929	Abnormal blood cation concentration	3766	KCNJ10	ORPHA:199343
HP:0010929	Abnormal blood cation concentration	476	ATP1A1	ORPHA:564178
HP:0010929	Abnormal blood cation concentration	476	ATP1A1	OMIM:618314
HP:0010929	Abnormal blood cation concentration	100134444	KCNJ18	ORPHA:79102
HP:0010929	Abnormal blood cation concentration	2556	GABRA3	ORPHA:79102
HP:0010929	Abnormal blood cation concentration	779	CACNA1S	ORPHA:79102
HP:0010929	Abnormal blood cation concentration	1950	EGF	OMIM:611718
HP:0010929	Abnormal blood cation concentration	5442	POLRMT	OMIM:619743
HP:0010929	Abnormal blood cation concentration	3758	KCNJ1	OMIM:241200
HP:0010929	Abnormal blood cation concentration	54805	CNNM2	OMIM:613882
HP:0010929	Abnormal blood cation concentration	54805	CNNM2	OMIM:616418
HP:0010929	Abnormal blood cation concentration	54938	SARS2	OMIM:613845
HP:0010929	Abnormal blood cation concentration	7074	TIAM1	OMIM:619908
HP:0010929	Abnormal blood cation concentration	5092	PCBD1	ORPHA:1578
HP:0010929	Abnormal blood cation concentration	9071	CLDN10	OMIM:617671
HP:0010929	Abnormal blood cation concentration	229	ALDOB	ORPHA:469
HP:0010929	Abnormal blood cation concentration	3939	LDHA	ORPHA:284426
HP:0010929	Abnormal blood cation concentration	595	CCND1	ORPHA:29073
HP:0010929	Abnormal blood cation concentration	51604	PIGT	ORPHA:369837
HP:0010929	Abnormal blood cation concentration	6569	SLC34A1	OMIM:616963
HP:0010929	Abnormal blood cation concentration	55654	TMEM127	OMIM:171300
HP:0010929	Abnormal blood cation concentration	55654	TMEM127	ORPHA:29072
HP:0010929	Abnormal blood cation concentration	4149	MAX	OMIM:171300
HP:0010929	Abnormal blood cation concentration	4149	MAX	ORPHA:29072
HP:0010929	Abnormal blood cation concentration	5979	RET	OMIM:171300
HP:0010929	Abnormal blood cation concentration	5979	RET	ORPHA:29072
HP:0010929	Abnormal blood cation concentration	5979	RET	ORPHA:276621
HP:0010929	Abnormal blood cation concentration	7428	VHL	OMIM:171300
HP:0010929	Abnormal blood cation concentration	7428	VHL	ORPHA:29072
HP:0010929	Abnormal blood cation concentration	7428	VHL	ORPHA:276621
HP:0010929	Abnormal blood cation concentration	1743	DLST	ORPHA:29072
HP:0010929	Abnormal blood cation concentration	4191	MDH2	ORPHA:29072
HP:0010929	Abnormal blood cation concentration	6389	SDHA	ORPHA:29072
HP:0010929	Abnormal blood cation concentration	23095	KIF1B	ORPHA:29072
HP:0010929	Abnormal blood cation concentration	2271	FH	ORPHA:29072
HP:0010929	Abnormal blood cation concentration	8402	SLC25A11	ORPHA:29072
HP:0010929	Abnormal blood cation concentration	54949	SDHAF2	ORPHA:29072
HP:0010929	Abnormal blood cation concentration	4763	NF1	ORPHA:29072
HP:0010929	Abnormal blood cation concentration	6391	SDHC	ORPHA:29072
HP:0010929	Abnormal blood cation concentration	6392	SDHD	ORPHA:29072
HP:0010929	Abnormal blood cation concentration	6392	SDHD	ORPHA:276621
HP:0010929	Abnormal blood cation concentration	6390	SDHB	ORPHA:29072
HP:0010929	Abnormal blood cation concentration	6390	SDHB	ORPHA:276621
HP:0010929	Abnormal blood cation concentration	6804	STX1A	ORPHA:904
HP:0010929	Abnormal blood cation concentration	7461	CLIP2	ORPHA:904
HP:0010929	Abnormal blood cation concentration	84277	DNAJC30	ORPHA:904
HP:0010929	Abnormal blood cation concentration	8468	FKBP6	ORPHA:904
HP:0010929	Abnormal blood cation concentration	5982	RFC2	ORPHA:904
HP:0010929	Abnormal blood cation concentration	2969	GTF2I	ORPHA:904
HP:0010929	Abnormal blood cation concentration	3984	LIMK1	ORPHA:904
HP:0010929	Abnormal blood cation concentration	9569	GTF2IRD1	ORPHA:904
HP:0010929	Abnormal blood cation concentration	155382	VPS37D	ORPHA:904
HP:0010929	Abnormal blood cation concentration	155368	METTL27	ORPHA:904
HP:0010929	Abnormal blood cation concentration	114049	BUD23	ORPHA:904
HP:0010929	Abnormal blood cation concentration	7458	EIF4H	ORPHA:904
HP:0010929	Abnormal blood cation concentration	84163	GTF2IRD2	ORPHA:904
HP:0010929	Abnormal blood cation concentration	26608	TBL2	ORPHA:904
HP:0010929	Abnormal blood cation concentration	653361	NCF1	ORPHA:904
HP:0010929	Abnormal blood cation concentration	135886	TMEM270	ORPHA:904
HP:0010929	Abnormal blood cation concentration	9031	BAZ1B	ORPHA:904
HP:0010929	Abnormal blood cation concentration	2006	ELN	ORPHA:904
HP:0010929	Abnormal blood cation concentration	2006	ELN	OMIM:194050
HP:0010929	Abnormal blood cation concentration	596	BCL2	ORPHA:545
HP:0010929	Abnormal blood cation concentration	3492	IGH	ORPHA:545
HP:0010929	Abnormal blood cation concentration	3123	HLA-DRB1	ORPHA:545
HP:0010929	Abnormal blood cation concentration	3123	HLA-DRB1	ORPHA:797
HP:0010929	Abnormal blood cation concentration	604	BCL6	ORPHA:545
HP:0010929	Abnormal blood cation concentration	64324	NSD1	ORPHA:821
HP:0010929	Abnormal blood cation concentration	10297	APC2	ORPHA:821
HP:0010929	Abnormal blood cation concentration	79577	CDC73	ORPHA:143
HP:0010929	Abnormal blood cation concentration	79577	CDC73	OMIM:145000
HP:0010929	Abnormal blood cation concentration	79577	CDC73	OMIM:145001
HP:0010929	Abnormal blood cation concentration	79577	CDC73	ORPHA:99880
HP:0010929	Abnormal blood cation concentration	79577	CDC73	ORPHA:99879
HP:0010929	Abnormal blood cation concentration	79577	CDC73	OMIM:608266
HP:0010929	Abnormal blood cation concentration	249	ALPL	OMIM:241500
HP:0010929	Abnormal blood cation concentration	7204	TRIO	ORPHA:476126
HP:0010929	Abnormal blood cation concentration	6523	SLC5A1	ORPHA:35710
HP:0010929	Abnormal blood cation concentration	51085	MLXIPL	OMIM:194050
HP:0010929	Abnormal blood cation concentration	5978	REST	ORPHA:654
HP:0010929	Abnormal blood cation concentration	129563	DIS3L2	ORPHA:654
HP:0010929	Abnormal blood cation concentration	675	BRCA2	ORPHA:654
HP:0010929	Abnormal blood cation concentration	9319	TRIP13	ORPHA:654
HP:0010929	Abnormal blood cation concentration	7490	WT1	ORPHA:654
HP:0010929	Abnormal blood cation concentration	10155	TRIM28	ORPHA:654
HP:0010929	Abnormal blood cation concentration	11281	POU6F2	ORPHA:654
HP:0010929	Abnormal blood cation concentration	2719	GPC3	ORPHA:654
HP:0010929	Abnormal blood cation concentration	283120	H19	ORPHA:654
HP:0010929	Abnormal blood cation concentration	4221	MEN1	ORPHA:652
HP:0010929	Abnormal blood cation concentration	4221	MEN1	OMIM:131100
HP:0010929	Abnormal blood cation concentration	4221	MEN1	ORPHA:99879
HP:0010929	Abnormal blood cation concentration	1027	CDKN1B	ORPHA:652
HP:0010929	Abnormal blood cation concentration	1027	CDKN1B	ORPHA:276152
HP:0010929	Abnormal blood cation concentration	1026	CDKN1A	ORPHA:652
HP:0010929	Abnormal blood cation concentration	1030	CDKN2B	ORPHA:652
HP:0010929	Abnormal blood cation concentration	1031	CDKN2C	ORPHA:652
HP:0010929	Abnormal blood cation concentration	4854	NOTCH3	ORPHA:2591
HP:0010929	Abnormal blood cation concentration	5745	PTH1R	OMIM:156400
HP:0010929	Abnormal blood cation concentration	9365	KL	OMIM:617994
HP:0010929	Abnormal blood cation concentration	56172	ANKH	OMIM:123000
HP:0010929	Abnormal blood cation concentration	2591	GALNT3	OMIM:211900
HP:0010929	Abnormal blood cation concentration	1788	DNMT3A	ORPHA:276621
HP:0010929	Abnormal blood cation concentration	2034	EPAS1	ORPHA:276621
HP:0010929	Abnormal blood cation concentration	6557	SLC12A1	OMIM:601678
HP:0010929	Abnormal blood cation concentration	1175	AP2S1	OMIM:600740
HP:0010929	Abnormal blood cation concentration	7543	ZFX	OMIM:301118
HP:0010929	Abnormal blood cation concentration	1591	CYP24A1	OMIM:143880
HP:0010929	Abnormal blood cation concentration	8792	TNFRSF11A	OMIM:602080
HP:0010929	Abnormal blood cation concentration	1028	CDKN1C	OMIM:614732
HP:0010929	Abnormal blood cation concentration	78987	CRELD1	OMIM:620771
HP:0010929	Abnormal blood cation concentration	56244	BTNL2	ORPHA:797
HP:0010929	Abnormal blood cation concentration	6850	SYK	OMIM:619381
HP:0010929	Abnormal blood cation concentration	359	AQP2	ORPHA:223
HP:0010929	Abnormal blood cation concentration	359	AQP2	OMIM:125800
HP:0010929	Abnormal blood cation concentration	2260	FGFR1	OMIM:615465
HP:0010929	Abnormal blood cation concentration	763	CA5A	OMIM:615751
HP:0010929	Abnormal blood cation concentration	2653	GCSH	OMIM:620423
HP:0010929	Abnormal blood cation concentration	1828	DSG1	OMIM:615508
HP:0010929	Abnormal blood cation concentration	9915	ARNT2	OMIM:615926
HP:0010929	Abnormal blood cation concentration	617	BCS1L	OMIM:603358
HP:0010929	Abnormal blood cation concentration	55240	STEAP3	ORPHA:300298
HP:0010929	Abnormal blood cation concentration	4891	SLC11A2	OMIM:206100
HP:0010929	Abnormal blood cation concentration	7036	TFR2	OMIM:604250
HP:0010929	Abnormal blood cation concentration	650	BMP2	OMIM:235200
HP:0010929	Abnormal blood cation concentration	5313	PKLR	ORPHA:766
HP:0010929	Abnormal blood cation concentration	326	AIRE	OMIM:240300
HP:0010929	Abnormal blood cation concentration	1758	DMP1	ORPHA:289176
HP:0010929	Abnormal blood cation concentration	5167	ENPP1	ORPHA:289176
HP:0010929	Abnormal blood cation concentration	8456	FOXN1	ORPHA:83471
HP:0010929	Abnormal blood cation concentration	149461	CLDN19	OMIM:248190
HP:0010929	Abnormal blood cation concentration	5251	PHEX	OMIM:307800
HP:0010929	Abnormal blood cation concentration	7227	TRPS1	OMIM:190350
HP:0010929	Abnormal blood cation concentration	10686	CLDN16	OMIM:248250
HP:0010929	Abnormal blood cation concentration	54809	SAMD9	OMIM:610455
HP:0010929	Abnormal blood cation concentration	129607	CMPK2	OMIM:621018
HP:0010929	Abnormal blood cation concentration	6575	SLC20A2	OMIM:213600
HP:0010929	Abnormal blood cation concentration	5159	PDGFRB	OMIM:213600
HP:0010929	Abnormal blood cation concentration	5155	PDGFB	OMIM:213600
HP:0010929	Abnormal blood cation concentration	55811	ADCY10	ORPHA:2197
HP:0010929	Abnormal blood cation concentration	79879	CCDC134	OMIM:619795
HP:0010929	Abnormal blood cation concentration	10568	SLC34A2	ORPHA:60025
HP:0010929	Abnormal blood cation concentration	142680	SLC34A3	OMIM:241530
HP:0010929	Abnormal blood cation concentration	55151	TMEM38B	OMIM:615066
HP:0010929	Abnormal blood cation concentration	64116	SLC39A8	ORPHA:468699
HP:0010929	Abnormal blood cation concentration	1317	SLC31A1	OMIM:620306
HP:0010929	Abnormal blood cation concentration	9997	SCO2	ORPHA:521411
HP:0010929	Abnormal blood cation concentration	2495	FTH1	OMIM:615517
HP:0010929	Abnormal blood cation concentration	166378	AFG2A	ORPHA:457351
HP:0010929	Abnormal blood cation concentration	23545	ATP6V0A2	ORPHA:2834
HP:0010929	Abnormal blood cation concentration	540	ATP7B	OMIM:277900
HP:0010929	Abnormal blood cation concentration	55532	SLC30A10	ORPHA:309854
HP:0010929	Abnormal blood cation concentration	6550	SLC9A3	OMIM:616868
HP:0010929	Abnormal blood cation concentration	9652	SKIC3	ORPHA:84064
HP:0010929	Abnormal blood cation concentration	9652	SKIC3	OMIM:222470
HP:0010929	Abnormal blood cation concentration	6499	SKIC2	ORPHA:84064
HP:0010929	Abnormal blood cation concentration	212	ALAS2	ORPHA:75563
HP:0010929	Abnormal blood cation concentration	654	BMP6	ORPHA:465508
HP:0010929	Abnormal blood cation concentration	3077	HFE	ORPHA:465508
HP:0010929	Abnormal blood cation concentration	3043	HBB	ORPHA:231222
HP:0010929	Abnormal blood cation concentration	3043	HBB	ORPHA:231226
HP:0010929	Abnormal blood cation concentration	3043	HBB	ORPHA:231214
HP:0010929	Abnormal blood cation concentration	57817	HAMP	ORPHA:79230
HP:0010929	Abnormal blood cation concentration	148738	HJV	ORPHA:79230
HP:0010929	Abnormal blood cation concentration	6329	SCN4A	ORPHA:684
HP:0010929	Abnormal blood cation concentration	6521	SLC4A1	ORPHA:3202
HP:0010929	Abnormal blood cation concentration	9780	PIEZO1	ORPHA:3202
HP:0010929	Abnormal blood cation concentration	3783	KCNN4	ORPHA:3202
HP:0010929	Abnormal blood cation concentration	9056	SLC7A7	ORPHA:470
HP:0010929	Abnormal blood cation concentration	9051	PSTPIP1	OMIM:601979
HP:0010929	Abnormal blood cation concentration	1356	CP	ORPHA:48818
HP:0010929	Abnormal blood cation concentration	22796	COG2	ORPHA:435934
HP:0010929	Abnormal blood cation concentration	22796	COG2	OMIM:617395
HP:0010929	Abnormal blood cation concentration	147007	TMEM199	OMIM:616829
HP:0010929	Abnormal blood cation concentration	538	ATP7A	OMIM:304150
HP:0010929	Abnormal blood cation concentration	162	AP1B1	ORPHA:171851
HP:0010929	Abnormal blood cation concentration	162	AP1B1	OMIM:242150
HP:0010929	Abnormal blood cation concentration	1174	AP1S1	ORPHA:171851
HP:0010929	Abnormal blood cation concentration	537	ATP6AP1	OMIM:300972
HP:0010929	Abnormal blood cation concentration	9197	SLC33A1	OMIM:614482
HP:0010929	Abnormal blood cation concentration	54977	SLC25A38	OMIM:205950
HP:0010929	Abnormal blood cation concentration	30061	SLC40A1	OMIM:606069
HP:0010929	Abnormal blood cation concentration	10008	KCNE3	ORPHA:681
HP:0010929	Abnormal blood cation concentration	9493	KIF23	ORPHA:98870
HP:0010929	Abnormal blood cation concentration	29127	RACGAP1	ORPHA:98870
HP:0010929	Abnormal blood cation concentration	5825	ABCD3	OMIM:616278
HP:0010929	Abnormal blood cation concentration	4312	MMP1	ORPHA:79408
HP:0010929	Abnormal blood cation concentration	1294	COL7A1	ORPHA:79408
HP:0010929	Abnormal blood cation concentration	1294	COL7A1	ORPHA:89842
HP:0010929	Abnormal blood cation concentration	3376	IARS1	ORPHA:541423
HP:0010929	Abnormal blood cation concentration	3376	IARS1	OMIM:617093
HP:0010929	Abnormal blood cation concentration	7780	SLC30A2	OMIM:608118
HP:0010929	Abnormal blood cation concentration	55630	SLC39A4	OMIM:201100
HP:0010929	Abnormal blood cation concentration	23516	SLC39A14	ORPHA:521406
HP:0010929	Abnormal blood cation concentration	23516	SLC39A14	OMIM:617013
HP:0010929	Abnormal blood cation concentration	2512	FTL	OMIM:600886
HP:0010929	Abnormal blood cation concentration	2512	FTL	ORPHA:254704
HP:0010929	Abnormal blood cation concentration	5277	PIGA	OMIM:300868
HP:0010929	Abnormal blood cation concentration	23166	STAB1	OMIM:620729
HP:0010929	Abnormal blood cation concentration	64170	CARD9	OMIM:212050
HP:0010929	Abnormal blood cation concentration	164656	TMPRSS6	ORPHA:209981
HP:0010929	Abnormal blood cation concentration	51095	TRNT1	OMIM:616959
HP:0010929	Abnormal blood cation concentration	27086	FOXP1	ORPHA:391372
HP:0001177	Preaxial hand polydactyly	57167	SALL4	ORPHA:233
HP:0001177	Preaxial hand polydactyly	57167	SALL4	ORPHA:959
HP:0001177	Preaxial hand polydactyly	57167	SALL4	ORPHA:2307
HP:0001177	Preaxial hand polydactyly	9935	MAFB	ORPHA:233
HP:0001177	Preaxial hand polydactyly	1123	CHN1	ORPHA:233
HP:0001177	Preaxial hand polydactyly	2137	EXTL3	ORPHA:508533
HP:0001177	Preaxial hand polydactyly	22827	PUF60	ORPHA:508498
HP:0001177	Preaxial hand polydactyly	65250	CPLANE1	OMIM:277170
HP:0001177	Preaxial hand polydactyly	6608	SMO	OMIM:601707
HP:0001177	Preaxial hand polydactyly	6608	SMO	ORPHA:1553
HP:0001177	Preaxial hand polydactyly	4750	NEK1	OMIM:263520
HP:0001177	Preaxial hand polydactyly	4750	NEK1	OMIM:252100
HP:0001177	Preaxial hand polydactyly	2737	GLI3	OMIM:175700
HP:0001177	Preaxial hand polydactyly	2737	GLI3	ORPHA:380
HP:0001177	Preaxial hand polydactyly	2737	GLI3	OMIM:174200
HP:0001177	Preaxial hand polydactyly	2737	GLI3	OMIM:146510
HP:0001177	Preaxial hand polydactyly	64327	LMBR1	ORPHA:2378
HP:0001177	Preaxial hand polydactyly	64327	LMBR1	OMIM:190605
HP:0001177	Preaxial hand polydactyly	55027	HEATR3	OMIM:620072
HP:0001177	Preaxial hand polydactyly	6299	SALL1	OMIM:107480
HP:0001177	Preaxial hand polydactyly	6299	SALL1	ORPHA:857
HP:0001177	Preaxial hand polydactyly	55112	DYNC2I1	ORPHA:93271
HP:0001177	Preaxial hand polydactyly	57560	IFT80	ORPHA:93271
HP:0001177	Preaxial hand polydactyly	57539	WDR35	ORPHA:93271
HP:0001177	Preaxial hand polydactyly	79659	DYNC2H1	ORPHA:93271
HP:0001177	Preaxial hand polydactyly	89891	DYNC2I2	ORPHA:93271
HP:0001177	Preaxial hand polydactyly	374879	ZNF699	OMIM:619488
HP:0001177	Preaxial hand polydactyly	374654	KIF7	OMIM:200990
HP:0001177	Preaxial hand polydactyly	8318	CDC45	OMIM:617063
HP:0001177	Preaxial hand polydactyly	5728	PTEN	ORPHA:210548
HP:0001177	Preaxial hand polydactyly	220296	HEPACAM	ORPHA:210548
HP:0001177	Preaxial hand polydactyly	51339	DACT1	ORPHA:857
HP:0001177	Preaxial hand polydactyly	57688	ZSWIM6	OMIM:603671
HP:0001177	Preaxial hand polydactyly	2177	FANCD2	OMIM:227646
HP:0001177	Preaxial hand polydactyly	83871	RAB34	OMIM:620718
HP:0001177	Preaxial hand polydactyly	727857	BHLHA9	ORPHA:3329
HP:0001177	Preaxial hand polydactyly	23133	PHF8	ORPHA:85287
HP:0001177	Preaxial hand polydactyly	8481	OFD1	ORPHA:2750
HP:0001177	Preaxial hand polydactyly	219844	HYLS1	OMIM:236680
HP:0001177	Preaxial hand polydactyly	26123	TCTN3	ORPHA:2753
HP:0001177	Preaxial hand polydactyly	26123	TCTN3	ORPHA:564
HP:0001177	Preaxial hand polydactyly	2697	GJA1	ORPHA:2710
HP:0001177	Preaxial hand polydactyly	3239	HOXD13	ORPHA:887
HP:0001177	Preaxial hand polydactyly	7020	TFAP2A	OMIM:113620
HP:0001177	Preaxial hand polydactyly	7020	TFAP2A	ORPHA:1297
HP:0001177	Preaxial hand polydactyly	84314	TMEM107	ORPHA:564
HP:0001177	Preaxial hand polydactyly	79867	TCTN2	ORPHA:564
HP:0001177	Preaxial hand polydactyly	80776	B9D2	ORPHA:564
HP:0001177	Preaxial hand polydactyly	79600	TCTN1	ORPHA:564
HP:0001177	Preaxial hand polydactyly	57096	RPGRIP1	ORPHA:564
HP:0001177	Preaxial hand polydactyly	79848	CSPP1	ORPHA:564
HP:0001177	Preaxial hand polydactyly	80184	CEP290	ORPHA:564
HP:0001177	Preaxial hand polydactyly	51259	TMEM216	ORPHA:564
HP:0001177	Preaxial hand polydactyly	57545	CC2D2A	ORPHA:564
HP:0001177	Preaxial hand polydactyly	79583	TMEM231	ORPHA:564
HP:0001177	Preaxial hand polydactyly	91147	TMEM67	ORPHA:564
HP:0001177	Preaxial hand polydactyly	79770	TXNDC15	ORPHA:564
HP:0001177	Preaxial hand polydactyly	27077	B9D1	ORPHA:564
HP:0001177	Preaxial hand polydactyly	23322	RPGRIP1L	ORPHA:564
HP:0001177	Preaxial hand polydactyly	54903	MKS1	ORPHA:564
HP:0001177	Preaxial hand polydactyly	65062	TMEM237	ORPHA:564
HP:0001177	Preaxial hand polydactyly	10815	CPLX1	ORPHA:280
HP:0001177	Preaxial hand polydactyly	10815	CPLX1	OMIM:194190
HP:0001177	Preaxial hand polydactyly	54872	PIGG	ORPHA:280
HP:0001177	Preaxial hand polydactyly	7469	NELFA	ORPHA:280
HP:0001177	Preaxial hand polydactyly	1487	CTBP1	ORPHA:280
HP:0001177	Preaxial hand polydactyly	1487	CTBP1	OMIM:194190
HP:0001177	Preaxial hand polydactyly	3954	LETM1	ORPHA:280
HP:0001177	Preaxial hand polydactyly	3954	LETM1	OMIM:194190
HP:0001177	Preaxial hand polydactyly	7468	NSD2	ORPHA:280
HP:0001177	Preaxial hand polydactyly	7468	NSD2	OMIM:194190
HP:0001177	Preaxial hand polydactyly	2735	GLI1	OMIM:174400
HP:0001177	Preaxial hand polydactyly	53834	FGFRL1	OMIM:194190
HP:0001177	Preaxial hand polydactyly	9343	EFTUD2	OMIM:610536
HP:0001177	Preaxial hand polydactyly	9343	EFTUD2	ORPHA:79113
HP:0001177	Preaxial hand polydactyly	2263	FGFR2	OMIM:101200
HP:0001956	Truncal obesity	23476	BRD4	ORPHA:199
HP:0001956	Truncal obesity	9126	SMC3	ORPHA:199
HP:0001956	Truncal obesity	8243	SMC1A	ORPHA:199
HP:0001956	Truncal obesity	6878	TAF6	ORPHA:199
HP:0001956	Truncal obesity	25836	NIPBL	ORPHA:199
HP:0001956	Truncal obesity	55869	HDAC8	ORPHA:199
HP:0001956	Truncal obesity	55869	HDAC8	OMIM:300882
HP:0001956	Truncal obesity	55869	HDAC8	ORPHA:3459
HP:0001956	Truncal obesity	5885	RAD21	ORPHA:199
HP:0001956	Truncal obesity	3479	IGF1	ORPHA:73272
HP:0001956	Truncal obesity	7840	ALMS1	ORPHA:64
HP:0001956	Truncal obesity	7840	ALMS1	OMIM:203800
HP:0001956	Truncal obesity	11253	MAN1B1	ORPHA:397941
HP:0001956	Truncal obesity	11253	MAN1B1	OMIM:614202
HP:0001956	Truncal obesity	23394	ADNP	ORPHA:404448
HP:0001956	Truncal obesity	23394	ADNP	OMIM:615873
HP:0001956	Truncal obesity	57187	THOC2	OMIM:300957
HP:0001956	Truncal obesity	2033	EP300	OMIM:180849
HP:0001956	Truncal obesity	1387	CREBBP	OMIM:180849
HP:0001956	Truncal obesity	2778	GNAS	OMIM:219080
HP:0001956	Truncal obesity	388015	RTL1	ORPHA:96184
HP:0001956	Truncal obesity	8788	DLK1	ORPHA:96184
HP:0001956	Truncal obesity	55384	MEG3	ORPHA:96184
HP:0001956	Truncal obesity	26137	ZBTB20	OMIM:259050
HP:0001956	Truncal obesity	755	CFAP410	OMIM:617547
HP:0001956	Truncal obesity	81887	LAS1L	ORPHA:3459
HP:0001956	Truncal obesity	23187	PHLDB1	OMIM:620639
HP:0001956	Truncal obesity	56623	INPP5E	OMIM:610156
HP:0001956	Truncal obesity	56623	INPP5E	ORPHA:75858
HP:0001956	Truncal obesity	50940	PDE11A	OMIM:610475
HP:0001956	Truncal obesity	55599	RNPC3	OMIM:618160
HP:0001956	Truncal obesity	84196	USP48	ORPHA:96253
HP:0001956	Truncal obesity	7157	TP53	ORPHA:96253
HP:0001956	Truncal obesity	9101	USP8	ORPHA:96253
HP:0001956	Truncal obesity	64072	CDH23	ORPHA:96253
HP:0001956	Truncal obesity	2908	NR3C1	ORPHA:96253
HP:0001956	Truncal obesity	673	BRAF	ORPHA:96253
HP:0001956	Truncal obesity	546	ATRX	ORPHA:96253
HP:0001956	Truncal obesity	83696	TRAPPC9	OMIM:613192
HP:0001956	Truncal obesity	2332	FMR1	ORPHA:261483
HP:0001956	Truncal obesity	7518	XRCC4	OMIM:616541
HP:0001956	Truncal obesity	10743	RAI1	OMIM:182290
HP:0001956	Truncal obesity	84068	SLC10A7	OMIM:618363
HP:0001956	Truncal obesity	3483	IGFALS	ORPHA:140941
HP:0001956	Truncal obesity	5116	PCNT	ORPHA:2637
HP:0001956	Truncal obesity	5116	PCNT	OMIM:210720
HP:0001956	Truncal obesity	9149	DYRK1B	OMIM:615812
HP:0001956	Truncal obesity	64131	XYLT1	OMIM:615777
HP:0001956	Truncal obesity	64131	XYLT1	ORPHA:370930
HP:0001956	Truncal obesity	84100	ARL6	OMIM:209900
HP:0001956	Truncal obesity	79140	CCDC28B	OMIM:209900
HP:0001956	Truncal obesity	582	BBS1	OMIM:209900
HP:0001956	Truncal obesity	208	AKT2	ORPHA:293964
HP:0001956	Truncal obesity	208	AKT2	OMIM:240900
HP:0001956	Truncal obesity	5573	PRKAR1A	OMIM:610489
HP:0001956	Truncal obesity	51322	WAC	ORPHA:466950
HP:0001956	Truncal obesity	84295	PHF6	ORPHA:127
HP:0001956	Truncal obesity	157680	VPS13B	OMIM:216550
HP:0001956	Truncal obesity	9056	SLC7A7	OMIM:222700
HP:0001956	Truncal obesity	5718	PSMD12	ORPHA:529962
HP:0001956	Truncal obesity	2186	BPTF	ORPHA:529962
HP:0001956	Truncal obesity	2703	GJA8	OMIM:612474
HP:0001956	Truncal obesity	2702	GJA5	OMIM:612474
HP:0001956	Truncal obesity	27241	BBS9	OMIM:615986
HP:0001956	Truncal obesity	3480	IGF1R	OMIM:270450
HP:0001956	Truncal obesity	2690	GHR	ORPHA:633
HP:0001956	Truncal obesity	5122	PCSK1	ORPHA:71528
HP:0001956	Truncal obesity	4160	MC4R	ORPHA:71529
HP:0001956	Truncal obesity	92482	BBIP1	ORPHA:110
HP:0001956	Truncal obesity	80184	CEP290	ORPHA:110
HP:0001956	Truncal obesity	11020	IFT27	ORPHA:110
HP:0001956	Truncal obesity	49855	SCAPER	ORPHA:110
HP:0001956	Truncal obesity	4867	NPHP1	ORPHA:110
HP:0001956	Truncal obesity	51057	WDPCP	ORPHA:110
HP:0001956	Truncal obesity	132320	SCLT1	ORPHA:110
HP:0001956	Truncal obesity	84984	CEP19	ORPHA:110
HP:0001956	Truncal obesity	22954	TRIM32	ORPHA:110
HP:0001956	Truncal obesity	54903	MKS1	ORPHA:110
HP:0001956	Truncal obesity	79738	BBS10	ORPHA:110
HP:0001956	Truncal obesity	123016	TTC8	ORPHA:110
HP:0001956	Truncal obesity	26160	IFT172	ORPHA:110
HP:0001956	Truncal obesity	583	BBS2	ORPHA:110
HP:0001956	Truncal obesity	585	BBS4	ORPHA:110
HP:0001956	Truncal obesity	8195	MKKS	ORPHA:110
HP:0001956	Truncal obesity	54585	LZTFL1	ORPHA:110
HP:0001956	Truncal obesity	55212	BBS7	ORPHA:110
HP:0001956	Truncal obesity	166379	BBS12	ORPHA:110
HP:0001956	Truncal obesity	10806	SDCCAG8	ORPHA:110
HP:0001956	Truncal obesity	157657	CFAP418	ORPHA:110
HP:0001956	Truncal obesity	129880	BBS5	ORPHA:110
HP:0001956	Truncal obesity	80173	IFT74	ORPHA:110
HP:0001956	Truncal obesity	5443	POMC	ORPHA:71526
HP:0008887	Adipose tissue loss	63924	CIDEC	ORPHA:435651
HP:0008887	Adipose tissue loss	2074	ERCC6	OMIM:133540
HP:0008887	Adipose tissue loss	3763	KCNJ6	ORPHA:435628
HP:0008887	Adipose tissue loss	10269	ZMPSTE24	OMIM:608612
HP:0008887	Adipose tissue loss	1161	ERCC8	OMIM:216400
HP:0008887	Adipose tissue loss	11128	POLR3A	ORPHA:3455
HP:0008887	Adipose tissue loss	5346	PLIN1	ORPHA:280356
HP:0008887	Adipose tissue loss	5424	POLD1	OMIM:615381
HP:0008887	Adipose tissue loss	3991	LIPE	ORPHA:435660
HP:0008887	Adipose tissue loss	5130	PCYT1A	OMIM:620680
HP:0008887	Adipose tissue loss	5295	PIK3R1	OMIM:269880
HP:0008887	Adipose tissue loss	2068	ERCC2	OMIM:601675
HP:0008887	Adipose tissue loss	2068	ERCC2	ORPHA:33364
HP:0008887	Adipose tissue loss	5557	PRIM1	OMIM:620005
HP:0008887	Adipose tissue loss	404672	GTF2H5	ORPHA:33364
HP:0008887	Adipose tissue loss	833	CARS1	ORPHA:33364
HP:0008887	Adipose tissue loss	7737	RNF113A	ORPHA:33364
HP:0008887	Adipose tissue loss	136647	MPLKIP	ORPHA:33364
HP:0008887	Adipose tissue loss	6897	TARS1	ORPHA:33364
HP:0008887	Adipose tissue loss	16	AARS1	ORPHA:33364
HP:0008887	Adipose tissue loss	2071	ERCC3	ORPHA:33364
HP:0008887	Adipose tissue loss	2961	GTF2E2	ORPHA:33364
HP:0008887	Adipose tissue loss	2072	ERCC4	OMIM:610965
HP:0008887	Adipose tissue loss	2200	FBN1	OMIM:616914
HP:0008887	Adipose tissue loss	641	BLM	ORPHA:125
HP:0008887	Adipose tissue loss	5696	PSMB8	OMIM:256040
HP:0008887	Adipose tissue loss	5468	PPARG	ORPHA:528
HP:0008887	Adipose tissue loss	10555	AGPAT2	ORPHA:528
HP:0008887	Adipose tissue loss	284119	CAVIN1	ORPHA:528
HP:0008887	Adipose tissue loss	26580	BSCL2	ORPHA:528
HP:0008887	Adipose tissue loss	2353	FOS	ORPHA:528
HP:0008887	Adipose tissue loss	857	CAV1	ORPHA:528
HP:0008887	Adipose tissue loss	4000	LMNA	OMIM:151660
HP:0008887	Adipose tissue loss	3643	INSR	OMIM:246200
HP:0008887	Adipose tissue loss	84823	LMNB2	OMIM:608709
HP:0005627	Type D brachydactyly	3239	HOXD13	OMIM:113200
HP:0005625	Osteoporosis of vertebrae	29893	PSMC3IP	ORPHA:243
HP:0005625	Osteoporosis of vertebrae	171568	POLR3H	ORPHA:243
HP:0005625	Osteoporosis of vertebrae	2516	NR5A1	ORPHA:243
HP:0005625	Osteoporosis of vertebrae	125150	ZSWIM7	ORPHA:243
HP:0005625	Osteoporosis of vertebrae	9210	BMP15	ORPHA:243
HP:0005625	Osteoporosis of vertebrae	57122	NUP107	ORPHA:243
HP:0005625	Osteoporosis of vertebrae	23514	SPIDR	ORPHA:243
HP:0005625	Osteoporosis of vertebrae	2492	FSHR	ORPHA:243
HP:0005625	Osteoporosis of vertebrae	56945	MRPS22	ORPHA:243
HP:0005625	Osteoporosis of vertebrae	646	BNC1	ORPHA:243
HP:0005625	Osteoporosis of vertebrae	4438	MSH4	ORPHA:243
HP:0005625	Osteoporosis of vertebrae	5626	PROP1	ORPHA:95494
HP:0005625	Osteoporosis of vertebrae	5626	PROP1	ORPHA:90695
HP:0005625	Osteoporosis of vertebrae	2736	GLI2	ORPHA:95494
HP:0005625	Osteoporosis of vertebrae	89884	LHX4	ORPHA:95494
HP:0005625	Osteoporosis of vertebrae	3170	FOXA2	ORPHA:95494
HP:0005625	Osteoporosis of vertebrae	5449	POU1F1	ORPHA:95494
HP:0005625	Osteoporosis of vertebrae	8820	HESX1	ORPHA:95494
HP:0005625	Osteoporosis of vertebrae	5015	OTX2	ORPHA:95494
HP:0005625	Osteoporosis of vertebrae	860	RUNX2	OMIM:156510
HP:0005625	Osteoporosis of vertebrae	6658	SOX3	ORPHA:90695
HP:0005621	Trapezoidal vertebral body	55733	HHAT	OMIM:600092
HP:0001156	Brachydactyly	3265	HRAS	ORPHA:79414
HP:0001156	Brachydactyly	2137	EXTL3	ORPHA:508533
HP:0001156	Brachydactyly	2137	EXTL3	OMIM:617425
HP:0001156	Brachydactyly	23394	ADNP	ORPHA:404448
HP:0001156	Brachydactyly	10617	STAMBP	OMIM:614261
HP:0001156	Brachydactyly	28981	IFT81	OMIM:617895
HP:0001156	Brachydactyly	4750	NEK1	OMIM:263520
HP:0001156	Brachydactyly	4750	NEK1	OMIM:252100
HP:0001156	Brachydactyly	392255	GDF6	OMIM:617898
HP:0001156	Brachydactyly	1947	EFNB1	ORPHA:1520
HP:0001156	Brachydactyly	1947	EFNB1	OMIM:304110
HP:0001156	Brachydactyly	5238	PGM3	ORPHA:443811
HP:0001156	Brachydactyly	55733	HHAT	OMIM:600092
HP:0001156	Brachydactyly	4047	LSS	ORPHA:2850
HP:0001156	Brachydactyly	197	AHSG	ORPHA:2850
HP:0001156	Brachydactyly	3694	ITGB6	ORPHA:2850
HP:0001156	Brachydactyly	91147	TMEM67	OMIM:602152
HP:0001156	Brachydactyly	1836	SLC26A2	ORPHA:56304
HP:0001156	Brachydactyly	1836	SLC26A2	ORPHA:628
HP:0001156	Brachydactyly	1836	SLC26A2	OMIM:226900
HP:0001156	Brachydactyly	1836	SLC26A2	ORPHA:93307
HP:0001156	Brachydactyly	79848	CSPP1	ORPHA:397715
HP:0001156	Brachydactyly	9786	KIAA0586	ORPHA:397715
HP:0001156	Brachydactyly	114803	MYSM1	ORPHA:508542
HP:0001156	Brachydactyly	149775	GNAS-AS1	OMIM:603233
HP:0001156	Brachydactyly	2778	GNAS	OMIM:603233
HP:0001156	Brachydactyly	2778	GNAS	ORPHA:79443
HP:0001156	Brachydactyly	2778	GNAS	ORPHA:79444
HP:0001156	Brachydactyly	2778	GNAS	ORPHA:79445
HP:0001156	Brachydactyly	2778	GNAS	OMIM:612463
HP:0001156	Brachydactyly	2778	GNAS	OMIM:612462
HP:0001156	Brachydactyly	2778	GNAS	ORPHA:2762
HP:0001156	Brachydactyly	2778	GNAS	OMIM:103580
HP:0001156	Brachydactyly	8675	STX16	OMIM:603233
HP:0001156	Brachydactyly	1855	DVL1	OMIM:616331
HP:0001156	Brachydactyly	1855	DVL1	OMIM:180700
HP:0001156	Brachydactyly	1855	DVL1	ORPHA:3107
HP:0001156	Brachydactyly	55790	CSGALNACT1	OMIM:618870
HP:0001156	Brachydactyly	10026	PIGK	OMIM:618879
HP:0001156	Brachydactyly	28960	DCPS	OMIM:616459
HP:0001156	Brachydactyly	23384	SPECC1L	ORPHA:1519
HP:0001156	Brachydactyly	57539	WDR35	ORPHA:1515
HP:0001156	Brachydactyly	57539	WDR35	OMIM:614091
HP:0001156	Brachydactyly	57539	WDR35	OMIM:613610
HP:0001156	Brachydactyly	112752	IFT43	ORPHA:1515
HP:0001156	Brachydactyly	112752	IFT43	OMIM:614099
HP:0001156	Brachydactyly	112752	IFT43	OMIM:617866
HP:0001156	Brachydactyly	51098	IFT52	ORPHA:1515
HP:0001156	Brachydactyly	51098	IFT52	OMIM:617102
HP:0001156	Brachydactyly	55764	IFT122	ORPHA:1515
HP:0001156	Brachydactyly	55764	IFT122	OMIM:218330
HP:0001156	Brachydactyly	57728	WDR19	ORPHA:1515
HP:0001156	Brachydactyly	57728	WDR19	ORPHA:474
HP:0001156	Brachydactyly	57728	WDR19	OMIM:614376
HP:0001156	Brachydactyly	55636	CHD7	ORPHA:138
HP:0001156	Brachydactyly	9723	SEMA3E	ORPHA:138
HP:0001156	Brachydactyly	57231	SNX14	ORPHA:397709
HP:0001156	Brachydactyly	57231	SNX14	OMIM:616354
HP:0001156	Brachydactyly	1513	CTSK	OMIM:265800
HP:0001156	Brachydactyly	1513	CTSK	ORPHA:763
HP:0001156	Brachydactyly	818	CAMK2G	OMIM:618522
HP:0001156	Brachydactyly	54453	RIN2	OMIM:613075
HP:0001156	Brachydactyly	54453	RIN2	ORPHA:217335
HP:0001156	Brachydactyly	170691	ADAMTS17	OMIM:613195
HP:0001156	Brachydactyly	170691	ADAMTS17	ORPHA:3449
HP:0001156	Brachydactyly	9469	CHST3	OMIM:143095
HP:0001156	Brachydactyly	9469	CHST3	ORPHA:263463
HP:0001156	Brachydactyly	2261	FGFR3	OMIM:146000
HP:0001156	Brachydactyly	2261	FGFR3	ORPHA:1860
HP:0001156	Brachydactyly	2261	FGFR3	ORPHA:794
HP:0001156	Brachydactyly	2261	FGFR3	ORPHA:429
HP:0001156	Brachydactyly	2261	FGFR3	ORPHA:15
HP:0001156	Brachydactyly	2261	FGFR3	OMIM:602849
HP:0001156	Brachydactyly	2261	FGFR3	ORPHA:93274
HP:0001156	Brachydactyly	2261	FGFR3	ORPHA:93262
HP:0001156	Brachydactyly	2261	FGFR3	OMIM:100800
HP:0001156	Brachydactyly	2261	FGFR3	ORPHA:35099
HP:0001156	Brachydactyly	2261	FGFR3	OMIM:187601
HP:0001156	Brachydactyly	54567	DLL4	OMIM:616589
HP:0001156	Brachydactyly	54567	DLL4	ORPHA:974
HP:0001156	Brachydactyly	64359	NXN	OMIM:618529
HP:0001156	Brachydactyly	64359	NXN	ORPHA:1507
HP:0001156	Brachydactyly	7994	KAT6A	ORPHA:457193
HP:0001156	Brachydactyly	7994	KAT6A	OMIM:616268
HP:0001156	Brachydactyly	84100	ARL6	OMIM:209900
HP:0001156	Brachydactyly	84100	ARL6	ORPHA:110
HP:0001156	Brachydactyly	84100	ARL6	OMIM:600151
HP:0001156	Brachydactyly	79140	CCDC28B	OMIM:209900
HP:0001156	Brachydactyly	582	BBS1	OMIM:209900
HP:0001156	Brachydactyly	582	BBS1	ORPHA:110
HP:0001156	Brachydactyly	4920	ROR2	ORPHA:1507
HP:0001156	Brachydactyly	4920	ROR2	OMIM:268310
HP:0001156	Brachydactyly	2697	GJA1	ORPHA:2710
HP:0001156	Brachydactyly	2697	GJA1	ORPHA:317
HP:0001156	Brachydactyly	652	BMP4	OMIM:607932
HP:0001156	Brachydactyly	57178	ZMIZ1	OMIM:618659
HP:0001156	Brachydactyly	8036	SHOC2	ORPHA:2701
HP:0001156	Brachydactyly	5500	PPP1CB	ORPHA:2701
HP:0001156	Brachydactyly	2263	FGFR2	OMIM:101400
HP:0001156	Brachydactyly	2263	FGFR2	ORPHA:794
HP:0001156	Brachydactyly	2263	FGFR2	ORPHA:313855
HP:0001156	Brachydactyly	2263	FGFR2	OMIM:614592
HP:0001156	Brachydactyly	7291	TWIST1	OMIM:101400
HP:0001156	Brachydactyly	7291	TWIST1	ORPHA:794
HP:0001156	Brachydactyly	7291	TWIST1	ORPHA:35099
HP:0001156	Brachydactyly	63901	FAM111A	OMIM:602361
HP:0001156	Brachydactyly	81794	ADAMTS10	OMIM:277600
HP:0001156	Brachydactyly	81794	ADAMTS10	ORPHA:3449
HP:0001156	Brachydactyly	57167	SALL4	ORPHA:233
HP:0001156	Brachydactyly	9935	MAFB	ORPHA:233
HP:0001156	Brachydactyly	1123	CHN1	ORPHA:233
HP:0001156	Brachydactyly	9851	KIAA0753	ORPHA:474
HP:0001156	Brachydactyly	9851	KIAA0753	OMIM:619479
HP:0001156	Brachydactyly	9851	KIAA0753	ORPHA:2754
HP:0001156	Brachydactyly	55112	DYNC2I1	ORPHA:474
HP:0001156	Brachydactyly	55112	DYNC2I1	OMIM:615503
HP:0001156	Brachydactyly	26160	IFT172	ORPHA:474
HP:0001156	Brachydactyly	26160	IFT172	ORPHA:110
HP:0001156	Brachydactyly	26160	IFT172	OMIM:615630
HP:0001156	Brachydactyly	153241	CEP120	ORPHA:474
HP:0001156	Brachydactyly	57560	IFT80	ORPHA:474
HP:0001156	Brachydactyly	57560	IFT80	OMIM:611263
HP:0001156	Brachydactyly	51626	DYNC2LI1	ORPHA:474
HP:0001156	Brachydactyly	51626	DYNC2LI1	OMIM:617088
HP:0001156	Brachydactyly	79659	DYNC2H1	ORPHA:474
HP:0001156	Brachydactyly	79659	DYNC2H1	OMIM:613091
HP:0001156	Brachydactyly	9742	IFT140	ORPHA:474
HP:0001156	Brachydactyly	89891	DYNC2I2	ORPHA:474
HP:0001156	Brachydactyly	89891	DYNC2I2	OMIM:615633
HP:0001156	Brachydactyly	79809	TTC21B	ORPHA:474
HP:0001156	Brachydactyly	79809	TTC21B	OMIM:613819
HP:0001156	Brachydactyly	3981	LIG4	ORPHA:235
HP:0001156	Brachydactyly	54888	NSUN2	ORPHA:235
HP:0001156	Brachydactyly	92482	BBIP1	ORPHA:110
HP:0001156	Brachydactyly	92482	BBIP1	OMIM:615995
HP:0001156	Brachydactyly	80184	CEP290	ORPHA:110
HP:0001156	Brachydactyly	11020	IFT27	ORPHA:110
HP:0001156	Brachydactyly	49855	SCAPER	ORPHA:110
HP:0001156	Brachydactyly	4867	NPHP1	ORPHA:110
HP:0001156	Brachydactyly	51057	WDPCP	ORPHA:110
HP:0001156	Brachydactyly	132320	SCLT1	ORPHA:110
HP:0001156	Brachydactyly	27241	BBS9	ORPHA:110
HP:0001156	Brachydactyly	27241	BBS9	OMIM:615986
HP:0001156	Brachydactyly	84984	CEP19	ORPHA:110
HP:0001156	Brachydactyly	22954	TRIM32	ORPHA:110
HP:0001156	Brachydactyly	54903	MKS1	ORPHA:110
HP:0001156	Brachydactyly	79738	BBS10	ORPHA:110
HP:0001156	Brachydactyly	123016	TTC8	ORPHA:110
HP:0001156	Brachydactyly	583	BBS2	ORPHA:110
HP:0001156	Brachydactyly	585	BBS4	ORPHA:110
HP:0001156	Brachydactyly	585	BBS4	OMIM:615982
HP:0001156	Brachydactyly	8195	MKKS	ORPHA:110
HP:0001156	Brachydactyly	8195	MKKS	ORPHA:2473
HP:0001156	Brachydactyly	54585	LZTFL1	ORPHA:110
HP:0001156	Brachydactyly	54585	LZTFL1	OMIM:615994
HP:0001156	Brachydactyly	55212	BBS7	ORPHA:110
HP:0001156	Brachydactyly	166379	BBS12	ORPHA:110
HP:0001156	Brachydactyly	10806	SDCCAG8	ORPHA:110
HP:0001156	Brachydactyly	157657	CFAP418	ORPHA:110
HP:0001156	Brachydactyly	129880	BBS5	ORPHA:110
HP:0001156	Brachydactyly	129880	BBS5	OMIM:615983
HP:0001156	Brachydactyly	80173	IFT74	ORPHA:110
HP:0001156	Brachydactyly	8493	PPM1D	OMIM:617450
HP:0001156	Brachydactyly	56006	SMG9	OMIM:619995
HP:0001156	Brachydactyly	23126	POGZ	OMIM:616364
HP:0001156	Brachydactyly	55699	IARS2	OMIM:616007
HP:0001156	Brachydactyly	27125	AFF4	OMIM:616368
HP:0001156	Brachydactyly	27125	AFF4	ORPHA:444077
HP:0001156	Brachydactyly	132884	EVC2	OMIM:193530
HP:0001156	Brachydactyly	2121	EVC	OMIM:193530
HP:0001156	Brachydactyly	5590	PRKCZ	ORPHA:1606
HP:0001156	Brachydactyly	2563	GABRD	ORPHA:1606
HP:0001156	Brachydactyly	23013	SPEN	ORPHA:1606
HP:0001156	Brachydactyly	23013	SPEN	OMIM:619312
HP:0001156	Brachydactyly	8510	MMP23B	ORPHA:1606
HP:0001156	Brachydactyly	7798	LUZP1	ORPHA:1606
HP:0001156	Brachydactyly	6497	SKI	ORPHA:1606
HP:0001156	Brachydactyly	10630	PDPN	ORPHA:1606
HP:0001156	Brachydactyly	3339	HSPG2	ORPHA:1606
HP:0001156	Brachydactyly	10277	UBE4B	ORPHA:1606
HP:0001156	Brachydactyly	8514	KCNAB2	ORPHA:1606
HP:0001156	Brachydactyly	473	RERE	ORPHA:1606
HP:0001156	Brachydactyly	63976	PRDM16	ORPHA:1606
HP:0001156	Brachydactyly	54897	CASZ1	ORPHA:1606
HP:0001156	Brachydactyly	1311	COMP	OMIM:177170
HP:0001156	Brachydactyly	1311	COMP	ORPHA:750
HP:0001156	Brachydactyly	1311	COMP	ORPHA:93308
HP:0001156	Brachydactyly	4247	MGAT2	ORPHA:79329
HP:0001156	Brachydactyly	8314	BAP1	OMIM:619762
HP:0001156	Brachydactyly	54928	BPNT2	OMIM:614078
HP:0001156	Brachydactyly	7140	TNNT3	OMIM:618435
HP:0001156	Brachydactyly	3239	HOXD13	OMIM:610713
HP:0001156	Brachydactyly	3239	HOXD13	OMIM:113300
HP:0001156	Brachydactyly	3239	HOXD13	OMIM:186300
HP:0001156	Brachydactyly	124583	CANT1	OMIM:251450
HP:0001156	Brachydactyly	1301	COL11A1	ORPHA:440354
HP:0001156	Brachydactyly	1301	COL11A1	ORPHA:2021
HP:0001156	Brachydactyly	3930	LBR	OMIM:215140
HP:0001156	Brachydactyly	3930	LBR	OMIM:618019
HP:0001156	Brachydactyly	3930	LBR	ORPHA:1426
HP:0001156	Brachydactyly	4488	MSX2	OMIM:604757
HP:0001156	Brachydactyly	5727	PTCH1	ORPHA:377
HP:0001156	Brachydactyly	5727	PTCH1	OMIM:109400
HP:0001156	Brachydactyly	8643	PTCH2	ORPHA:377
HP:0001156	Brachydactyly	51684	SUFU	ORPHA:377
HP:0001156	Brachydactyly	6603	SMARCD2	OMIM:617475
HP:0001156	Brachydactyly	4851	NOTCH1	OMIM:616028
HP:0001156	Brachydactyly	4851	NOTCH1	ORPHA:974
HP:0001156	Brachydactyly	2260	FGFR1	OMIM:166250
HP:0001156	Brachydactyly	2260	FGFR1	ORPHA:2645
HP:0001156	Brachydactyly	25836	NIPBL	OMIM:122470
HP:0001156	Brachydactyly	23219	FBXO28	OMIM:619777
HP:0001156	Brachydactyly	51322	WAC	ORPHA:466950
HP:0001156	Brachydactyly	29929	ALG6	ORPHA:79320
HP:0001156	Brachydactyly	2317	FLNB	OMIM:272460
HP:0001156	Brachydactyly	2317	FLNB	ORPHA:503
HP:0001156	Brachydactyly	2317	FLNB	ORPHA:1190
HP:0001156	Brachydactyly	2317	FLNB	OMIM:108720
HP:0001156	Brachydactyly	100151683	RNU4ATAC	ORPHA:1824
HP:0001156	Brachydactyly	100151683	RNU4ATAC	ORPHA:353298
HP:0001156	Brachydactyly	100151683	RNU4ATAC	OMIM:226960
HP:0001156	Brachydactyly	100151683	RNU4ATAC	OMIM:210710
HP:0001156	Brachydactyly	100151683	RNU4ATAC	OMIM:616651
HP:0001156	Brachydactyly	100151683	RNU4ATAC	ORPHA:2636
HP:0001156	Brachydactyly	79053	ALG8	ORPHA:79325
HP:0001156	Brachydactyly	257	ALX3	OMIM:136760
HP:0001156	Brachydactyly	257	ALX3	ORPHA:391474
HP:0001156	Brachydactyly	6473	SHOX	ORPHA:240
HP:0001156	Brachydactyly	6595	SMARCA2	OMIM:601358
HP:0001156	Brachydactyly	6595	SMARCA2	ORPHA:3051
HP:0001156	Brachydactyly	7227	TRPS1	OMIM:190350
HP:0001156	Brachydactyly	7227	TRPS1	OMIM:190351
HP:0001156	Brachydactyly	7227	TRPS1	ORPHA:502
HP:0001156	Brachydactyly	5908	RAP1B	OMIM:620654
HP:0001156	Brachydactyly	2879	GPX4	OMIM:250220
HP:0001156	Brachydactyly	2737	GLI3	ORPHA:672
HP:0001156	Brachydactyly	2737	GLI3	OMIM:175700
HP:0001156	Brachydactyly	1280	COL2A1	OMIM:132450
HP:0001156	Brachydactyly	1280	COL2A1	OMIM:619248
HP:0001156	Brachydactyly	1280	COL2A1	OMIM:271700
HP:0001156	Brachydactyly	1280	COL2A1	OMIM:151210
HP:0001156	Brachydactyly	1280	COL2A1	OMIM:184250
HP:0001156	Brachydactyly	23111	SPART	OMIM:275900
HP:0001156	Brachydactyly	8200	GDF5	OMIM:615072
HP:0001156	Brachydactyly	8200	GDF5	OMIM:228900
HP:0001156	Brachydactyly	8200	GDF5	ORPHA:2098
HP:0001156	Brachydactyly	8200	GDF5	ORPHA:3250
HP:0001156	Brachydactyly	8200	GDF5	ORPHA:968
HP:0001156	Brachydactyly	8200	GDF5	OMIM:610017
HP:0001156	Brachydactyly	8200	GDF5	ORPHA:3237
HP:0001156	Brachydactyly	8200	GDF5	OMIM:113100
HP:0001156	Brachydactyly	8200	GDF5	ORPHA:2639
HP:0001156	Brachydactyly	253738	EBF3	ORPHA:96148
HP:0001156	Brachydactyly	90459	ERI1	OMIM:620663
HP:0001156	Brachydactyly	90459	ERI1	OMIM:620662
HP:0001156	Brachydactyly	5575	PRKAR1B	OMIM:619680
HP:0001156	Brachydactyly	59341	TRPV4	OMIM:156530
HP:0001156	Brachydactyly	59341	TRPV4	ORPHA:85169
HP:0001156	Brachydactyly	59341	TRPV4	ORPHA:93314
HP:0001156	Brachydactyly	176	ACAN	OMIM:612813
HP:0001156	Brachydactyly	176	ACAN	ORPHA:171866
HP:0001156	Brachydactyly	176	ACAN	ORPHA:435804
HP:0001156	Brachydactyly	176	ACAN	OMIM:165800
HP:0001156	Brachydactyly	51114	ZDHHC9	ORPHA:776
HP:0001156	Brachydactyly	65109	UPF3B	ORPHA:776
HP:0001156	Brachydactyly	9968	MED12	ORPHA:776
HP:0001156	Brachydactyly	9126	SMC3	OMIM:610759
HP:0001156	Brachydactyly	79068	FTO	OMIM:612938
HP:0001156	Brachydactyly	56975	FAM20C	OMIM:259775
HP:0001156	Brachydactyly	55249	YY1AP1	OMIM:602531
HP:0001156	Brachydactyly	5980	REV3L	ORPHA:570
HP:0001156	Brachydactyly	23129	PLXND1	ORPHA:570
HP:0001156	Brachydactyly	10940	POP1	OMIM:617396
HP:0001156	Brachydactyly	51132	RLIM	OMIM:300978
HP:0001156	Brachydactyly	4141	MARS1	OMIM:619692
HP:0001156	Brachydactyly	1621	DBH	OMIM:223360
HP:0001156	Brachydactyly	4052	LTBP1	OMIM:619451
HP:0001156	Brachydactyly	54496	PRMT7	OMIM:617157
HP:0001156	Brachydactyly	54496	PRMT7	ORPHA:464288
HP:0001156	Brachydactyly	2316	FLNA	ORPHA:88630
HP:0001156	Brachydactyly	2316	FLNA	OMIM:300244
HP:0001156	Brachydactyly	1009	CDH11	OMIM:211380
HP:0001156	Brachydactyly	5077	PAX3	OMIM:148820
HP:0001156	Brachydactyly	10483	SEC23B	ORPHA:201
HP:0001156	Brachydactyly	5728	PTEN	ORPHA:201
HP:0001156	Brachydactyly	6390	SDHB	ORPHA:201
HP:0001156	Brachydactyly	6392	SDHD	ORPHA:201
HP:0001156	Brachydactyly	6391	SDHC	ORPHA:201
HP:0001156	Brachydactyly	207	AKT1	ORPHA:201
HP:0001156	Brachydactyly	205717	USF3	ORPHA:201
HP:0001156	Brachydactyly	5290	PIK3CA	ORPHA:201
HP:0001156	Brachydactyly	100144748	KLLN	ORPHA:201
HP:0001156	Brachydactyly	25942	SIN3A	ORPHA:94065
HP:0001156	Brachydactyly	25942	SIN3A	OMIM:613406
HP:0001156	Brachydactyly	633	BGN	OMIM:300989
HP:0001156	Brachydactyly	633	BGN	OMIM:300106
HP:0001156	Brachydactyly	3977	LIFR	OMIM:601559
HP:0001156	Brachydactyly	10297	APC2	OMIM:617169
HP:0001156	Brachydactyly	7403	KDM6A	OMIM:300867
HP:0001156	Brachydactyly	7403	KDM6A	OMIM:147920
HP:0001156	Brachydactyly	7403	KDM6A	ORPHA:2322
HP:0001156	Brachydactyly	5144	PDE4D	ORPHA:439822
HP:0001156	Brachydactyly	5144	PDE4D	ORPHA:950
HP:0001156	Brachydactyly	5144	PDE4D	OMIM:614613
HP:0001156	Brachydactyly	6023	RMRP	OMIM:607095
HP:0001156	Brachydactyly	5573	PRKAR1A	OMIM:101800
HP:0001156	Brachydactyly	5573	PRKAR1A	ORPHA:950
HP:0001156	Brachydactyly	51715	RAB23	ORPHA:65759
HP:0001156	Brachydactyly	51715	RAB23	OMIM:201000
HP:0001156	Brachydactyly	1954	MEGF8	ORPHA:65759
HP:0001156	Brachydactyly	1954	MEGF8	OMIM:614976
HP:0001156	Brachydactyly	2707	GJB3	ORPHA:317
HP:0001156	Brachydactyly	2531	KDSR	ORPHA:317
HP:0001156	Brachydactyly	127534	GJB4	ORPHA:317
HP:0001156	Brachydactyly	64374	SIL1	ORPHA:559
HP:0001156	Brachydactyly	50801	KCNK4	OMIM:618381
HP:0001156	Brachydactyly	65250	CPLANE1	OMIM:277170
HP:0001156	Brachydactyly	65250	CPLANE1	ORPHA:2754
HP:0001156	Brachydactyly	5977	DPF2	OMIM:618027
HP:0001156	Brachydactyly	94005	PIGS	OMIM:618143
HP:0001156	Brachydactyly	145173	B3GLCT	OMIM:261540
HP:0001156	Brachydactyly	145173	B3GLCT	ORPHA:709
HP:0001156	Brachydactyly	5530	PPP3CA	OMIM:618265
HP:0001156	Brachydactyly	57514	ARHGAP31	OMIM:100300
HP:0001156	Brachydactyly	57514	ARHGAP31	ORPHA:974
HP:0001156	Brachydactyly	285590	SH3PXD2B	ORPHA:137834
HP:0001156	Brachydactyly	658	BMPR1B	ORPHA:2098
HP:0001156	Brachydactyly	658	BMPR1B	OMIM:609441
HP:0001156	Brachydactyly	658	BMPR1B	ORPHA:2639
HP:0001156	Brachydactyly	10283	CWC27	OMIM:250410
HP:0001156	Brachydactyly	10283	CWC27	ORPHA:166035
HP:0001156	Brachydactyly	6513	SLC2A1	ORPHA:168577
HP:0001156	Brachydactyly	9060	PAPSS2	OMIM:612847
HP:0001156	Brachydactyly	4796	TONSL	OMIM:271510
HP:0001156	Brachydactyly	4796	TONSL	ORPHA:93357
HP:0001156	Brachydactyly	2131	EXT1	ORPHA:502
HP:0001156	Brachydactyly	5885	RAD21	ORPHA:502
HP:0001156	Brachydactyly	5885	RAD21	OMIM:614701
HP:0001156	Brachydactyly	2887	GRB10	ORPHA:96182
HP:0001156	Brachydactyly	8720	MBTPS1	OMIM:618392
HP:0001156	Brachydactyly	1457	CSNK2A1	OMIM:617062
HP:0001156	Brachydactyly	7204	TRIO	OMIM:617061
HP:0001156	Brachydactyly	2077	ERF	OMIM:617180
HP:0001156	Brachydactyly	5130	PCYT1A	ORPHA:85167
HP:0001156	Brachydactyly	5130	PCYT1A	OMIM:608940
HP:0001156	Brachydactyly	90416	CCDC32	OMIM:619123
HP:0001156	Brachydactyly	55717	WDR11	OMIM:620237
HP:0001156	Brachydactyly	23169	SLC35D1	OMIM:269250
HP:0001156	Brachydactyly	3516	RBPJ	ORPHA:974
HP:0001156	Brachydactyly	57572	DOCK6	ORPHA:974
HP:0001156	Brachydactyly	285203	EOGT	ORPHA:974
HP:0001156	Brachydactyly	407975	MIR17HG	ORPHA:391646
HP:0001156	Brachydactyly	3549	IHH	OMIM:112500
HP:0001156	Brachydactyly	3549	IHH	OMIM:607778
HP:0001156	Brachydactyly	23387	SIK3	OMIM:618162
HP:0001156	Brachydactyly	5295	PIK3R1	ORPHA:3163
HP:0001156	Brachydactyly	50515	CHST11	OMIM:618167
HP:0001156	Brachydactyly	51371	POMP	OMIM:618048
HP:0001156	Brachydactyly	57152	SLURP1	OMIM:248300
HP:0001156	Brachydactyly	89970	RSPRY1	ORPHA:457395
HP:0001156	Brachydactyly	9487	PIGL	OMIM:280000
HP:0001156	Brachydactyly	8481	OFD1	OMIM:300804
HP:0001156	Brachydactyly	8481	OFD1	OMIM:311200
HP:0001156	Brachydactyly	8481	OFD1	ORPHA:2750
HP:0001156	Brachydactyly	8481	OFD1	ORPHA:2754
HP:0001156	Brachydactyly	51594	NBAS	OMIM:614800
HP:0001156	Brachydactyly	4000	LMNA	ORPHA:168796
HP:0001156	Brachydactyly	4000	LMNA	OMIM:610140
HP:0001156	Brachydactyly	22800	RRAS2	ORPHA:648
HP:0001156	Brachydactyly	867	CBL	ORPHA:648
HP:0001156	Brachydactyly	8216	LZTR1	ORPHA:648
HP:0001156	Brachydactyly	6016	RIT1	ORPHA:648
HP:0001156	Brachydactyly	6237	RRAS	ORPHA:648
HP:0001156	Brachydactyly	5894	RAF1	ORPHA:648
HP:0001156	Brachydactyly	22808	MRAS	ORPHA:648
HP:0001156	Brachydactyly	3845	KRAS	ORPHA:648
HP:0001156	Brachydactyly	3845	KRAS	ORPHA:3339
HP:0001156	Brachydactyly	3845	KRAS	OMIM:609942
HP:0001156	Brachydactyly	200734	SPRED2	ORPHA:648
HP:0001156	Brachydactyly	4893	NRAS	ORPHA:648
HP:0001156	Brachydactyly	6654	SOS1	ORPHA:648
HP:0001156	Brachydactyly	6655	SOS2	ORPHA:648
HP:0001156	Brachydactyly	5781	PTPN11	ORPHA:648
HP:0001156	Brachydactyly	5781	PTPN11	OMIM:163950
HP:0001156	Brachydactyly	5922	RASA2	ORPHA:648
HP:0001156	Brachydactyly	7474	WNT5A	OMIM:180700
HP:0001156	Brachydactyly	7474	WNT5A	ORPHA:3107
HP:0001156	Brachydactyly	9897	WASHC5	ORPHA:7
HP:0001156	Brachydactyly	28952	CCDC22	ORPHA:7
HP:0001156	Brachydactyly	57020	VPS35L	ORPHA:7
HP:0001156	Brachydactyly	56896	DPYSL5	ORPHA:7
HP:0001156	Brachydactyly	11011	TLK2	OMIM:618050
HP:0001156	Brachydactyly	5567	PRKACB	OMIM:619143
HP:0001156	Brachydactyly	51109	RDH11	ORPHA:436245
HP:0001156	Brachydactyly	25886	POC1A	OMIM:614813
HP:0001156	Brachydactyly	4053	LTBP2	OMIM:614819
HP:0001156	Brachydactyly	4053	LTBP2	ORPHA:3449
HP:0001156	Brachydactyly	2690	GHR	ORPHA:633
HP:0001156	Brachydactyly	9898	UBAP2L	OMIM:620494
HP:0001156	Brachydactyly	8085	KMT2D	OMIM:147920
HP:0001156	Brachydactyly	8085	KMT2D	ORPHA:2322
HP:0001156	Brachydactyly	8243	SMC1A	OMIM:300590
HP:0001156	Brachydactyly	8450	CUL4B	OMIM:300354
HP:0001156	Brachydactyly	9131	AIFM1	OMIM:300232
HP:0001156	Brachydactyly	118429	ANTXR2	ORPHA:2176
HP:0001156	Brachydactyly	3209	HOXA13	OMIM:140000
HP:0001156	Brachydactyly	5447	POR	ORPHA:95699
HP:0001156	Brachydactyly	9241	NOG	ORPHA:3250
HP:0001156	Brachydactyly	9241	NOG	OMIM:186570
HP:0001156	Brachydactyly	9241	NOG	ORPHA:3237
HP:0001156	Brachydactyly	9241	NOG	OMIM:186500
HP:0001156	Brachydactyly	374654	KIF7	OMIM:200990
HP:0001156	Brachydactyly	374654	KIF7	ORPHA:2754
HP:0001156	Brachydactyly	22858	CILK1	OMIM:612651
HP:0001156	Brachydactyly	2314	FLII	ORPHA:819
HP:0001156	Brachydactyly	23096	IQSEC2	ORPHA:819
HP:0001156	Brachydactyly	10743	RAI1	ORPHA:819
HP:0001156	Brachydactyly	10743	RAI1	OMIM:182290
HP:0001156	Brachydactyly	10522	DEAF1	ORPHA:819
HP:0001156	Brachydactyly	10847	SRCAP	ORPHA:2044
HP:0001156	Brachydactyly	10847	SRCAP	OMIM:136140
HP:0001156	Brachydactyly	1717	DHCR7	ORPHA:818
HP:0001156	Brachydactyly	26153	KIF26A	OMIM:620156
HP:0001156	Brachydactyly	56992	KIF15	ORPHA:261323
HP:0001156	Brachydactyly	23522	KAT6B	OMIM:606170
HP:0001156	Brachydactyly	8289	ARID1A	OMIM:614607
HP:0001156	Brachydactyly	2200	FBN1	ORPHA:969
HP:0001156	Brachydactyly	2200	FBN1	OMIM:608328
HP:0001156	Brachydactyly	2200	FBN1	ORPHA:3449
HP:0001156	Brachydactyly	4054	LTBP3	ORPHA:969
HP:0001156	Brachydactyly	4054	LTBP3	OMIM:617809
HP:0001156	Brachydactyly	546	ATRX	ORPHA:847
HP:0001156	Brachydactyly	546	ATRX	OMIM:309580
HP:0001156	Brachydactyly	222663	SCUBE3	OMIM:619184
HP:0001156	Brachydactyly	860	RUNX2	OMIM:119600
HP:0001156	Brachydactyly	860	RUNX2	ORPHA:1452
HP:0001156	Brachydactyly	6885	MAP3K7	OMIM:157800
HP:0001156	Brachydactyly	6885	MAP3K7	ORPHA:3238
HP:0001156	Brachydactyly	79813	EHMT1	OMIM:610253
HP:0001156	Brachydactyly	51021	MRPS16	OMIM:610498
HP:0001156	Brachydactyly	1302	COL11A2	ORPHA:2021
HP:0001156	Brachydactyly	1302	COL11A2	ORPHA:1427
HP:0001156	Brachydactyly	4853	NOTCH2	ORPHA:955
HP:0001156	Brachydactyly	2254	FGF9	ORPHA:3237
HP:0001156	Brachydactyly	1802	DPH2	OMIM:620062
HP:0001156	Brachydactyly	1857	DVL3	ORPHA:3107
HP:0001156	Brachydactyly	1857	DVL3	OMIM:616894
HP:0001156	Brachydactyly	2535	FZD2	ORPHA:3107
HP:0001156	Brachydactyly	10908	PNPLA6	ORPHA:2377
HP:0001156	Brachydactyly	55165	CEP55	OMIM:236500
HP:0001156	Brachydactyly	157570	ESCO2	ORPHA:3103
HP:0001156	Brachydactyly	157570	ESCO2	OMIM:268300
HP:0001156	Brachydactyly	55343	SLC35C1	OMIM:266265
HP:0001156	Brachydactyly	55027	HEATR3	OMIM:620072
HP:0001156	Brachydactyly	10236	HNRNPR	OMIM:620073
HP:0001156	Brachydactyly	4089	SMAD4	OMIM:139210
HP:0001156	Brachydactyly	4089	SMAD4	ORPHA:2588
HP:0001156	Brachydactyly	9321	TRIP11	OMIM:184260
HP:0001156	Brachydactyly	5159	PDGFRB	OMIM:601812
HP:0001156	Brachydactyly	1654	DDX3X	ORPHA:3338
HP:0001156	Brachydactyly	5139	PDE3A	ORPHA:1276
HP:0001156	Brachydactyly	9555	MACROH2A1	ORPHA:1275
HP:0001156	Brachydactyly	5307	PITX1	ORPHA:1275
HP:0001156	Brachydactyly	8242	KDM5C	OMIM:300534
HP:0001156	Brachydactyly	727857	BHLHA9	ORPHA:3329
HP:0001156	Brachydactyly	7048	TGFBR2	OMIM:610168
HP:0001156	Brachydactyly	4882	NPR2	ORPHA:40
HP:0001156	Brachydactyly	22856	CHSY1	OMIM:605282
HP:0001156	Brachydactyly	22856	CHSY1	ORPHA:363417
HP:0001156	Brachydactyly	50945	TBX22	ORPHA:921
HP:0001156	Brachydactyly	2703	GJA8	OMIM:612474
HP:0001156	Brachydactyly	2702	GJA5	OMIM:612474
HP:0001156	Brachydactyly	2702	GJA5	ORPHA:3303
HP:0001156	Brachydactyly	9894	TELO2	OMIM:616954
HP:0001156	Brachydactyly	9894	TELO2	ORPHA:488642
HP:0001156	Brachydactyly	196528	ARID2	OMIM:617808
HP:0001156	Brachydactyly	55081	IFT57	OMIM:617927
HP:0001156	Brachydactyly	26123	TCTN3	OMIM:258860
HP:0001156	Brachydactyly	26123	TCTN3	ORPHA:2754
HP:0001156	Brachydactyly	10075	HUWE1	OMIM:309590
HP:0001156	Brachydactyly	6938	TCF12	ORPHA:35099
HP:0001156	Brachydactyly	6938	TCF12	OMIM:615314
HP:0001156	Brachydactyly	7545	ZIC1	ORPHA:35099
HP:0001156	Brachydactyly	2245	FGD1	OMIM:305400
HP:0001156	Brachydactyly	51621	KLF13	OMIM:612001
HP:0001156	Brachydactyly	1139	CHRNA7	OMIM:612001
HP:0001156	Brachydactyly	9759	HDAC4	ORPHA:1001
HP:0001156	Brachydactyly	1482	NKX2-5	ORPHA:3303
HP:0001156	Brachydactyly	137814	NKX2-6	ORPHA:3303
HP:0001156	Brachydactyly	23414	ZFPM2	ORPHA:3303
HP:0001156	Brachydactyly	2626	GATA4	ORPHA:3303
HP:0001156	Brachydactyly	3791	KDR	ORPHA:3303
HP:0001156	Brachydactyly	2627	GATA6	ORPHA:3303
HP:0001156	Brachydactyly	2657	GDF1	ORPHA:3303
HP:0001156	Brachydactyly	182	JAG1	ORPHA:3303
HP:0001156	Brachydactyly	6899	TBX1	ORPHA:3303
HP:0001156	Brachydactyly	140628	GATA5	ORPHA:3303
HP:0001156	Brachydactyly	2324	FLT4	ORPHA:3303
HP:0001156	Brachydactyly	10370	CITED2	ORPHA:3303
HP:0001156	Brachydactyly	23291	FBXW11	OMIM:618914
HP:0001156	Brachydactyly	5053	PAH	ORPHA:2209
HP:0001156	Brachydactyly	389827	MYMK	ORPHA:1358
HP:0001156	Brachydactyly	101929726	MYMX	ORPHA:1358
HP:0001156	Brachydactyly	54808	DYM	OMIM:223800
HP:0001156	Brachydactyly	2239	GPC4	OMIM:301026
HP:0001156	Brachydactyly	5925	RB1	ORPHA:1587
HP:0001156	Brachydactyly	3759	KCNJ2	OMIM:170390
HP:0001156	Brachydactyly	23028	KDM1A	ORPHA:477993
HP:0001156	Brachydactyly	7476	WNT7A	OMIM:613005
HP:0001156	Brachydactyly	114548	NLRP3	ORPHA:1451
HP:0001156	Brachydactyly	29980	DONSON	OMIM:617604
HP:0001156	Brachydactyly	5116	PCNT	OMIM:210720
HP:0001156	Brachydactyly	5116	PCNT	ORPHA:2637
HP:0001156	Brachydactyly	54551	MAGEL2	OMIM:615547
HP:0001156	Brachydactyly	9419	CRIPT	OMIM:615789
HP:0001156	Brachydactyly	6638	SNRPN	ORPHA:177907
HP:0001156	Brachydactyly	9361	LONP1	ORPHA:1458
HP:0001156	Brachydactyly	64840	PORCN	OMIM:305600
HP:0001156	Brachydactyly	538	ATP7A	ORPHA:198
HP:0001156	Brachydactyly	8092	ALX1	ORPHA:306542
HP:0001156	Brachydactyly	9791	PTDSS1	ORPHA:2658
HP:0001156	Brachydactyly	117581	TWIST2	OMIM:209885
HP:0001156	Brachydactyly	54361	WNT4	ORPHA:247768
HP:0001156	Brachydactyly	23556	PIGN	ORPHA:280633
HP:0001156	Brachydactyly	55617	TASP1	OMIM:618950
HP:0001156	Brachydactyly	5744	PTHLH	OMIM:613382
HP:0001156	Brachydactyly	526	ATP6V1B2	OMIM:124480
HP:0001156	Brachydactyly	113246	C12orf57	OMIM:218340
HP:0001156	Brachydactyly	4094	MAF	OMIM:601088
HP:0001156	Brachydactyly	5331	PLCB3	OMIM:618961
HP:0001156	Brachydactyly	387	RHOA	OMIM:618727
HP:0001156	Brachydactyly	6913	TBX15	ORPHA:93333
HP:0001156	Brachydactyly	79583	TMEM231	ORPHA:2754
HP:0001156	Brachydactyly	10210	TOPORS	ORPHA:2754
HP:0001156	Brachydactyly	5147	PDE6D	ORPHA:2754
HP:0001156	Brachydactyly	51259	TMEM216	ORPHA:2754
HP:0001156	Brachydactyly	317662	FAM149B1	ORPHA:2754
HP:0001156	Brachydactyly	23404	EXOSC2	OMIM:617763
HP:0001156	Brachydactyly	2036	EPB41L1	OMIM:614257
HP:0001156	Brachydactyly	3636	INPPL1	ORPHA:2746
HP:0001156	Brachydactyly	406932	MIR140	OMIM:618618
HP:0001156	Brachydactyly	25871	NEPRO	OMIM:618853
HP:0001156	Brachydactyly	255758	DYNLT2B	OMIM:617405
HP:0001156	Brachydactyly	673	BRAF	OMIM:163950
HP:0001156	Brachydactyly	5604	MAP2K1	OMIM:163950
HP:0001156	Brachydactyly	650	BMP2	OMIM:112600
HP:0001156	Brachydactyly	650	BMP2	ORPHA:93396
HP:0001156	Brachydactyly	4613	MYCN	ORPHA:391641
HP:0001156	Brachydactyly	9698	PUM1	OMIM:620719
HP:0001156	Brachydactyly	7021	TFAP2B	ORPHA:46627
HP:0001156	Brachydactyly	3481	IGF2	OMIM:180860
HP:0001156	Brachydactyly	51199	NIN	ORPHA:319675
HP:0001156	Brachydactyly	51199	NIN	OMIM:614851
HP:0001156	Brachydactyly	22827	PUF60	ORPHA:508488
HP:0001156	Brachydactyly	6910	TBX5	OMIM:142900
HP:0001156	Brachydactyly	2783	GNB2	OMIM:619503
HP:0001156	Brachydactyly	5932	RBBP8	OMIM:251255
HP:0001156	Brachydactyly	79005	SCNM1	OMIM:620107
HP:0001156	Brachydactyly	5745	PTH1R	OMIM:600002
HP:0003121	Limb joint contracture	64093	SMOC1	OMIM:206920
HP:0003121	Limb joint contracture	64093	SMOC1	ORPHA:1106
HP:0003121	Limb joint contracture	3868	KRT16	ORPHA:2199
HP:0003121	Limb joint contracture	3857	KRT9	ORPHA:2199
HP:0003121	Limb joint contracture	3848	KRT1	ORPHA:2199
HP:0003121	Limb joint contracture	4204	MECP2	OMIM:300055
HP:0003121	Limb joint contracture	10216	PRG4	OMIM:208250
HP:0003121	Limb joint contracture	10381	TUBB3	OMIM:600638
HP:0003121	Limb joint contracture	57863	CADM3	OMIM:619519
HP:0003121	Limb joint contracture	57211	ADGRG6	OMIM:616503
HP:0003121	Limb joint contracture	9719	ADAMTSL2	OMIM:231050
HP:0003121	Limb joint contracture	126792	B3GALT6	OMIM:609465
HP:0003121	Limb joint contracture	6913	TBX15	OMIM:260660
HP:0003121	Limb joint contracture	388015	RTL1	ORPHA:254528
HP:0003121	Limb joint contracture	8788	DLK1	ORPHA:254528
HP:0003121	Limb joint contracture	55384	MEG3	ORPHA:254528
HP:0003121	Limb joint contracture	6445	SGCG	ORPHA:353
HP:0003121	Limb joint contracture	3094	HINT1	ORPHA:324442
HP:0003121	Limb joint contracture	79912	PYROXD1	OMIM:617258
HP:0003121	Limb joint contracture	6442	SGCA	ORPHA:62
HP:0003121	Limb joint contracture	9990	SLC12A6	OMIM:620068
HP:0003121	Limb joint contracture	10060	ABCC9	OMIM:619719
HP:0003121	Limb joint contracture	5339	PLEC	ORPHA:254361
HP:0003121	Limb joint contracture	64419	MTMR14	OMIM:160150
HP:0003121	Limb joint contracture	1785	DNM2	OMIM:160150
HP:0003121	Limb joint contracture	2799	GNS	OMIM:252940
HP:0003121	Limb joint contracture	54888	NSUN2	OMIM:611091
HP:0003121	Limb joint contracture	6709	SPTAN1	OMIM:620528
HP:0003121	Limb joint contracture	4141	MARS1	OMIM:620323
HP:0003121	Limb joint contracture	291	SLC25A4	OMIM:615418
HP:0003121	Limb joint contracture	11145	PLAAT3	OMIM:620683
HP:0003121	Limb joint contracture	4556	MT-TE	ORPHA:2596
HP:0003121	Limb joint contracture	9499	MYOT	OMIM:609200
HP:0003121	Limb joint contracture	2705	GJB1	OMIM:302800
HP:0003121	Limb joint contracture	26090	ABHD12	OMIM:612674
HP:0003121	Limb joint contracture	2218	FKTN	ORPHA:370980
HP:0003121	Limb joint contracture	729920	CRPPA	ORPHA:370980
HP:0003121	Limb joint contracture	10585	POMT1	ORPHA:370980
HP:0003121	Limb joint contracture	3265	HRAS	OMIM:218040
HP:0003121	Limb joint contracture	79188	TMEM43	ORPHA:98853
HP:0003121	Limb joint contracture	23345	SYNE1	ORPHA:98853
HP:0003121	Limb joint contracture	23224	SYNE2	ORPHA:98853
HP:0003121	Limb joint contracture	1832	DSP	ORPHA:158687
HP:0003121	Limb joint contracture	3728	JUP	ORPHA:158687
HP:0003121	Limb joint contracture	2261	FGFR3	OMIM:610474
HP:0003121	Limb joint contracture	84295	PHF6	ORPHA:127
HP:0003121	Limb joint contracture	2137	EXTL3	ORPHA:508533
HP:0003121	Limb joint contracture	83932	SPRTN	OMIM:616200
HP:0003121	Limb joint contracture	5831	PYCR1	OMIM:614438
HP:0003121	Limb joint contracture	5351	PLOD1	ORPHA:1900
HP:0003121	Limb joint contracture	7020	TFAP2A	OMIM:113620
HP:0003121	Limb joint contracture	6926	TBX3	OMIM:181450
HP:0003121	Limb joint contracture	8985	PLOD3	OMIM:612394
HP:0003121	Limb joint contracture	545	ATR	OMIM:210600
HP:0003121	Limb joint contracture	3908	LAMA2	OMIM:618138
HP:0003121	Limb joint contracture	9244	CRLF1	OMIM:272430
HP:0003121	Limb joint contracture	84065	TMEM222	OMIM:619470
HP:0003121	Limb joint contracture	3835	KIF22	ORPHA:93360
HP:0003121	Limb joint contracture	6628	SNRPB	OMIM:117650
HP:0003121	Limb joint contracture	340419	RSPO2	OMIM:618022
HP:0003121	Limb joint contracture	1861	TOR1A	OMIM:618947
HP:0003121	Limb joint contracture	342035	GLDN	OMIM:617194
HP:0003121	Limb joint contracture	5286	PIK3C2A	OMIM:618440
HP:0003121	Limb joint contracture	25836	NIPBL	OMIM:122470
HP:0003121	Limb joint contracture	23219	FBXO28	OMIM:619777
HP:0003121	Limb joint contracture	7476	WNT7A	OMIM:276820
HP:0003121	Limb joint contracture	5832	ALDH18A1	ORPHA:447757
HP:0003121	Limb joint contracture	9469	CHST3	OMIM:245600
HP:0003121	Limb joint contracture	26229	B3GAT3	OMIM:245600
HP:0003121	Limb joint contracture	9427	ECEL1	OMIM:615065
HP:0003121	Limb joint contracture	825	CAPN3	ORPHA:267
HP:0003121	Limb joint contracture	2273	FHL1	OMIM:300696
HP:0003121	Limb joint contracture	57190	SELENON	ORPHA:97244
HP:0003121	Limb joint contracture	58	ACTA1	ORPHA:97244
HP:0003121	Limb joint contracture	1756	DMD	OMIM:310200
HP:0003121	Limb joint contracture	4000	LMNA	OMIM:613205
HP:0003121	Limb joint contracture	4976	OPA1	OMIM:210000
HP:0003121	Limb joint contracture	215	ABCD1	ORPHA:139396
HP:0003121	Limb joint contracture	203859	ANO5	ORPHA:206549
HP:0003121	Limb joint contracture	11160	ERLIN2	ORPHA:280384
HP:0003121	Limb joint contracture	29968	PSAT1	ORPHA:284417
HP:0003121	Limb joint contracture	51102	MECR	OMIM:617282
HP:0003121	Limb joint contracture	3074	HEXB	ORPHA:309162
HP:0003121	Limb joint contracture	51633	OTUD6B	ORPHA:505237
HP:0003121	Limb joint contracture	170302	ARX	OMIM:300004
HP:0003121	Limb joint contracture	5277	PIGA	OMIM:300868
HP:0003121	Limb joint contracture	8506	CNTNAP1	OMIM:618186
HP:0003121	Limb joint contracture	23516	SLC39A14	OMIM:617013
HP:0003121	Limb joint contracture	57679	ALS2	OMIM:205100
HP:0003121	Limb joint contracture	7170	TPM3	OMIM:255310
HP:0003121	Limb joint contracture	2902	GRIN1	OMIM:619814
HP:0003121	Limb joint contracture	55131	RBM28	OMIM:612079
HP:0003121	Limb joint contracture	7355	SLC35A2	ORPHA:356961
HP:0003121	Limb joint contracture	2157	F8	ORPHA:169802
HP:0003121	Limb joint contracture	400569	MED11	OMIM:620327
HP:0003121	Limb joint contracture	51091	SEPSECS	OMIM:613811
HP:0003121	Limb joint contracture	6329	SCN4A	OMIM:620369
HP:0003121	Limb joint contracture	819	CAMLG	OMIM:620201
HP:0003121	Limb joint contracture	55768	NGLY1	ORPHA:404454
HP:0003121	Limb joint contracture	10073	SNUPN	OMIM:620793
HP:0003121	Limb joint contracture	10269	ZMPSTE24	OMIM:275210
HP:0003121	Limb joint contracture	59341	TRPV4	ORPHA:93314
HP:0003121	Limb joint contracture	1308	COL17A1	ORPHA:251393
HP:0003121	Limb joint contracture	3691	ITGB4	ORPHA:251393
HP:0003121	Limb joint contracture	9653	HS2ST1	OMIM:619194
HP:0003121	Limb joint contracture	274	BIN1	ORPHA:169186
HP:0003121	Limb joint contracture	10290	SPEG	ORPHA:169186
HP:0003121	Limb joint contracture	10290	SPEG	OMIM:615959
HP:0003121	Limb joint contracture	6261	RYR1	ORPHA:169186
HP:0003121	Limb joint contracture	7273	TTN	ORPHA:169186
HP:0003121	Limb joint contracture	55906	ZC4H2	OMIM:301041
HP:0003121	Limb joint contracture	4593	MUSK	OMIM:208150
HP:0003121	Limb joint contracture	29895	MYL11	OMIM:619110
HP:0003121	Limb joint contracture	100151683	RNU4ATAC	OMIM:210710
HP:0003121	Limb joint contracture	100151683	RNU4ATAC	ORPHA:353298
HP:0003121	Limb joint contracture	100151683	RNU4ATAC	OMIM:616651
HP:0003121	Limb joint contracture	6885	MAP3K7	OMIM:617137
HP:0003121	Limb joint contracture	9894	TELO2	ORPHA:488642
HP:0003121	Limb joint contracture	285175	UNC80	OMIM:616801
HP:0003121	Limb joint contracture	285175	UNC80	ORPHA:371364
HP:0003121	Limb joint contracture	259232	NALCN	ORPHA:371364
HP:0003121	Limb joint contracture	259232	NALCN	OMIM:616266
HP:0003121	Limb joint contracture	7138	TNNT1	OMIM:620386
HP:0003121	Limb joint contracture	7138	TNNT1	ORPHA:98902
HP:0003121	Limb joint contracture	7138	TNNT1	OMIM:605355
HP:0003121	Limb joint contracture	84992	PIGY	OMIM:616809
HP:0003121	Limb joint contracture	64324	NSD1	ORPHA:821
HP:0003121	Limb joint contracture	10297	APC2	ORPHA:821
HP:0003121	Limb joint contracture	2617	GARS1	OMIM:619042
HP:0003121	Limb joint contracture	26137	ZBTB20	OMIM:259050
HP:0003121	Limb joint contracture	26137	ZBTB20	ORPHA:3042
HP:0003121	Limb joint contracture	1836	SLC26A2	OMIM:222600
HP:0003121	Limb joint contracture	8443	GNPAT	OMIM:222765
HP:0003121	Limb joint contracture	6536	SLC6A9	OMIM:617301
HP:0003121	Limb joint contracture	23522	KAT6B	ORPHA:85201
HP:0003121	Limb joint contracture	23522	KAT6B	OMIM:606170
HP:0003121	Limb joint contracture	163175	LGI4	OMIM:617468
HP:0003121	Limb joint contracture	2201	FBN2	OMIM:121050
HP:0003121	Limb joint contracture	60681	FKBP10	OMIM:259450
HP:0003121	Limb joint contracture	4773	NFATC2	OMIM:620232
HP:0003121	Limb joint contracture	1161	ERCC8	OMIM:216400
HP:0003121	Limb joint contracture	7169	TPM2	OMIM:108120
HP:0003121	Limb joint contracture	7169	TPM2	ORPHA:2020
HP:0003121	Limb joint contracture	87178	PNPT1	ORPHA:319514
HP:0003121	Limb joint contracture	79158	GNPTAB	ORPHA:576
HP:0003121	Limb joint contracture	23299	BICD2	OMIM:615290
HP:0003121	Limb joint contracture	4621	MYH3	OMIM:178110
HP:0003121	Limb joint contracture	4621	MYH3	OMIM:193700
HP:0003121	Limb joint contracture	5745	PTH1R	OMIM:156400
HP:0003121	Limb joint contracture	84068	SLC10A7	OMIM:618363
HP:0003121	Limb joint contracture	1292	COL6A2	OMIM:620727
HP:0003121	Limb joint contracture	7317	UBA1	ORPHA:1145
HP:0003121	Limb joint contracture	55681	SCYL2	ORPHA:1143
HP:0003121	Limb joint contracture	84570	COL25A1	ORPHA:1143
HP:0003121	Limb joint contracture	57222	ERGIC1	ORPHA:1143
HP:0003121	Limb joint contracture	3339	HSPG2	OMIM:255800
HP:0003121	Limb joint contracture	3339	HSPG2	ORPHA:800
HP:0003121	Limb joint contracture	4313	MMP2	OMIM:259600
HP:0003121	Limb joint contracture	1280	COL2A1	OMIM:156550
HP:0003121	Limb joint contracture	4633	MYL2	ORPHA:2020
HP:0003121	Limb joint contracture	3679	ITGA7	ORPHA:2020
HP:0003121	Limb joint contracture	9200	HACD1	ORPHA:2020
HP:0003121	Limb joint contracture	51776	MAP3K20	ORPHA:2020
HP:0003121	Limb joint contracture	5297	PI4KA	OMIM:619621
HP:0003121	Limb joint contracture	54681	P4HTM	OMIM:618493
HP:0003121	Limb joint contracture	1293	COL6A3	OMIM:620728
HP:0003121	Limb joint contracture	6023	RMRP	OMIM:607095
HP:0003121	Limb joint contracture	2783	GNB2	OMIM:619503
HP:0003121	Limb joint contracture	4632	MYL1	OMIM:618414
HP:0003121	Limb joint contracture	27145	FILIP1	OMIM:620775
HP:0003121	Limb joint contracture	55628	ZNF407	OMIM:619557
HP:0003121	Limb joint contracture	84265	POLR3GL	OMIM:619234
HP:0003121	Limb joint contracture	80204	FBXO11	OMIM:618089
HP:0003121	Limb joint contracture	3798	KIF5A	ORPHA:100991
HP:0003121	Limb joint contracture	84340	GFM2	ORPHA:565624
HP:0003121	Limb joint contracture	60386	SLC25A19	OMIM:613710
HP:0003121	Limb joint contracture	2521	FUS	ORPHA:300605
HP:0003121	Limb joint contracture	80208	SPG11	ORPHA:300605
HP:0003121	Limb joint contracture	10280	SIGMAR1	ORPHA:300605
HP:0003121	Limb joint contracture	10558	SPTLC1	ORPHA:300605
HP:0003121	Limb joint contracture	80232	WDR26	ORPHA:513456
HP:0003121	Limb joint contracture	6134	RPL10	ORPHA:459070
HP:0003121	Limb joint contracture	3767	KCNJ11	ORPHA:99885
HP:0003121	Limb joint contracture	6774	STAT3	ORPHA:99885
HP:0003121	Limb joint contracture	2645	GCK	ORPHA:99885
HP:0003121	Limb joint contracture	3651	PDX1	ORPHA:99885
HP:0003121	Limb joint contracture	6833	ABCC8	ORPHA:99885
HP:0003121	Limb joint contracture	3630	INS	ORPHA:99885
HP:0003121	Limb joint contracture	55315	SLC29A3	OMIM:602782
HP:0003121	Limb joint contracture	23556	PIGN	ORPHA:280633
HP:0003121	Limb joint contracture	64127	NOD2	OMIM:186580
HP:0003121	Limb joint contracture	23102	TBC1D2B	OMIM:619323
HP:0003121	Limb joint contracture	9150	CTDP1	ORPHA:48431
HP:0003121	Limb joint contracture	7043	TGFB3	OMIM:615582
HP:0003121	Limb joint contracture	1984	EIF5A	OMIM:619376
HP:0003121	Limb joint contracture	5696	PSMB8	OMIM:256040
HP:0003121	Limb joint contracture	4921	DDR2	OMIM:271665
HP:0003121	Limb joint contracture	23141	ANKLE2	OMIM:616681
HP:0003121	Limb joint contracture	4010	LMX1B	ORPHA:2614
HP:0003121	Limb joint contracture	170689	ADAMTS15	OMIM:620545
HP:0003121	Limb joint contracture	5352	PLOD2	OMIM:609220
HP:0003121	Limb joint contracture	1303	COL12A1	ORPHA:75840
HP:0003121	Limb joint contracture	1303	COL12A1	ORPHA:536516
HP:0003121	Limb joint contracture	1291	COL6A1	ORPHA:75840
HP:0003121	Limb joint contracture	6840	SVIL	OMIM:619040
HP:0003121	Limb joint contracture	91179	SCARF2	OMIM:600920
HP:0003121	Limb joint contracture	3714	JAG2	OMIM:619566
HP:0003121	Limb joint contracture	51506	UFC1	OMIM:618076
HP:0003121	Limb joint contracture	4649	MYO9A	OMIM:618198
HP:0003121	Limb joint contracture	6616	SNAP25	OMIM:616330
HP:0003121	Limb joint contracture	2067	ERCC1	OMIM:610758
HP:0003121	Limb joint contracture	29925	GMPPB	ORPHA:353327
HP:0003121	Limb joint contracture	2673	GFPT1	ORPHA:353327
HP:0003121	Limb joint contracture	1798	DPAGT1	ORPHA:353327
HP:0003121	Limb joint contracture	85365	ALG2	ORPHA:353327
HP:0003121	Limb joint contracture	85365	ALG2	OMIM:616228
HP:0003121	Limb joint contracture	199857	ALG14	ORPHA:353327
HP:0003121	Limb joint contracture	1146	CHRNG	OMIM:265000
HP:0003121	Limb joint contracture	2316	FLNA	OMIM:305620
HP:0003121	Limb joint contracture	23321	TRIM2	OMIM:615490
HP:0003121	Limb joint contracture	92255	LMBRD2	OMIM:619694
HP:0003121	Limb joint contracture	2010	EMD	OMIM:310300
HP:0003121	Limb joint contracture	3977	LIFR	OMIM:601559
HP:0003121	Limb joint contracture	3977	LIFR	ORPHA:3206
HP:0003121	Limb joint contracture	84342	COG8	OMIM:611182
HP:0003121	Limb joint contracture	127833	SYT2	OMIM:619461
HP:0003121	Limb joint contracture	23327	NEDD4L	OMIM:617201
HP:0003121	Limb joint contracture	1954	MEGF8	OMIM:614976
HP:0003121	Limb joint contracture	3930	LBR	OMIM:618019
HP:0003121	Limb joint contracture	79644	SRD5A3	OMIM:612713
HP:0003121	Limb joint contracture	6811	STX5	OMIM:620454
HP:0003121	Limb joint contracture	9531	BAG3	OMIM:612954
HP:0003121	Limb joint contracture	6874	TAF4	OMIM:620450
HP:0003121	Limb joint contracture	2074	ERCC6	OMIM:214150
HP:0003121	Limb joint contracture	9051	PSTPIP1	OMIM:604416
HP:0003121	Limb joint contracture	10804	GJB6	ORPHA:477
HP:0003121	Limb joint contracture	2706	GJB2	ORPHA:477
HP:0003121	Limb joint contracture	2706	GJB2	OMIM:148210
HP:0003121	Limb joint contracture	9791	PTDSS1	OMIM:151050
HP:0003121	Limb joint contracture	63895	PIEZO2	OMIM:114300
HP:0003121	Limb joint contracture	25914	RTTN	ORPHA:468631
HP:0003121	Limb joint contracture	157570	ESCO2	ORPHA:3103
HP:0003121	Limb joint contracture	157570	ESCO2	OMIM:268300
HP:0003121	Limb joint contracture	10613	ERLIN1	ORPHA:401785
HP:0003121	Limb joint contracture	22978	NT5C2	ORPHA:320396
HP:0003121	Limb joint contracture	2222	FDFT1	OMIM:618156
HP:0003121	Limb joint contracture	83636	C19orf12	OMIM:615043
HP:0003121	Limb joint contracture	1376	CPT2	OMIM:608836
HP:0003121	Limb joint contracture	5296	PIK3R2	OMIM:603387
HP:0003121	Limb joint contracture	23387	SIK3	OMIM:618162
HP:0003121	Limb joint contracture	8813	DPM1	OMIM:608799
HP:0003121	Limb joint contracture	8813	DPM1	ORPHA:79322
HP:0003121	Limb joint contracture	339855	KY	ORPHA:496689
HP:0003121	Limb joint contracture	6572	SLC18A3	OMIM:617239
HP:0003121	Limb joint contracture	6389	SDHA	ORPHA:3208
HP:0003121	Limb joint contracture	6390	SDHB	ORPHA:3208
HP:0003121	Limb joint contracture	6392	SDHD	ORPHA:3208
HP:0003121	Limb joint contracture	644096	SDHAF1	ORPHA:3208
HP:0003121	Limb joint contracture	64116	SLC39A8	ORPHA:468699
HP:0003121	Limb joint contracture	2200	FBN1	OMIM:184900
HP:0003121	Limb joint contracture	91137	SLC25A46	OMIM:619303
HP:0003121	Limb joint contracture	1140	CHRNB1	OMIM:616313
HP:0003121	Limb joint contracture	529	ATP6V1E1	OMIM:617402
HP:0003121	Limb joint contracture	8449	DHX16	OMIM:618733
HP:0003121	Limb joint contracture	2737	GLI3	ORPHA:93322
HP:0003121	Limb joint contracture	1859	DYRK1A	ORPHA:464311
HP:0003121	Limb joint contracture	1605	DAG1	OMIM:613818
HP:0003121	Limb joint contracture	1605	DAG1	ORPHA:280333
HP:0003121	Limb joint contracture	55958	KLHL9	ORPHA:399081
HP:0003121	Limb joint contracture	84876	ORAI1	OMIM:615883
HP:0003121	Limb joint contracture	6509	SLC1A4	OMIM:616657
HP:0003121	Limb joint contracture	26092	TOR1AIP1	OMIM:617072
HP:0003121	Limb joint contracture	210	ALAD	ORPHA:100924
HP:0003121	Limb joint contracture	513	ATP5F1D	OMIM:618120
HP:0003121	Limb joint contracture	497661	C18orf32	OMIM:619985
HP:0003121	Limb joint contracture	4703	NEB	ORPHA:399103
HP:0003121	Limb joint contracture	7407	VARS1	OMIM:617802
HP:0003121	Limb joint contracture	9896	FIG4	OMIM:611228
HP:0003121	Limb joint contracture	65055	REEP1	OMIM:620011
HP:0003121	Limb joint contracture	51305	KCNK9	ORPHA:166108
HP:0003121	Limb joint contracture	4604	MYBPC1	OMIM:614335
HP:0003121	Limb joint contracture	4312	MMP1	ORPHA:79408
HP:0003121	Limb joint contracture	1294	COL7A1	ORPHA:79408
HP:0003121	Limb joint contracture	2972	BRF1	ORPHA:444072
HP:0003121	Limb joint contracture	23259	DDHD2	ORPHA:320380
HP:0003121	Limb joint contracture	54828	BCAS3	OMIM:619641
HP:0003121	Limb joint contracture	51651	PTRH2	ORPHA:456312
HP:0003121	Limb joint contracture	1235	CCR6	ORPHA:220402
HP:0003121	Limb joint contracture	79932	KIAA0319L	ORPHA:220402
HP:0003121	Limb joint contracture	1490	CCN2	ORPHA:220402
HP:0003121	Limb joint contracture	3663	IRF5	ORPHA:220402
HP:0003121	Limb joint contracture	857	CAV1	ORPHA:220402
HP:0003121	Limb joint contracture	3123	HLA-DRB1	ORPHA:220402
HP:0003121	Limb joint contracture	2072	ERCC4	ORPHA:90321
HP:0003121	Limb joint contracture	51114	ZDHHC9	OMIM:300799
HP:0003121	Limb joint contracture	10664	CTCF	ORPHA:363611
HP:0003121	Limb joint contracture	219854	TMEM218	OMIM:619562
HP:0003121	Limb joint contracture	23291	FBXW11	OMIM:618914
HP:0003121	Limb joint contracture	9757	KMT2B	OMIM:619934
HP:0003121	Limb joint contracture	3720	JARID2	OMIM:620098
HP:0003121	Limb joint contracture	10765	KDM5B	OMIM:618109
HP:0003121	Limb joint contracture	10093	ARPC4	OMIM:620141
HP:0003121	Limb joint contracture	25942	SIN3A	OMIM:613406
HP:0003121	Limb joint contracture	11011	TLK2	OMIM:618050
HP:0003121	Limb joint contracture	6909	TBX2	OMIM:618223
HP:0003121	Limb joint contracture	90459	ERI1	OMIM:620662
HP:0003121	Limb joint contracture	80816	ASXL3	OMIM:615485
HP:0003121	Limb joint contracture	81857	MED25	ORPHA:464738
HP:0003121	Limb joint contracture	8243	SMC1A	OMIM:301044
HP:0003121	Limb joint contracture	1277	COL1A1	OMIM:130060
HP:0003121	Limb joint contracture	1718	DHCR24	OMIM:602398
HP:0003121	Limb joint contracture	10466	COG5	ORPHA:263487
HP:0003121	Limb joint contracture	5447	POR	OMIM:201750
HP:0003121	Limb joint contracture	54880	BCOR	OMIM:309800
HP:0003121	Limb joint contracture	8260	NAA10	OMIM:309800
HP:0003121	Limb joint contracture	8838	CCN6	OMIM:208230
HP:0003121	Limb joint contracture	8838	CCN6	ORPHA:1159
HP:0003121	Limb joint contracture	1001	CDH3	OMIM:225280
HP:0003121	Limb joint contracture	9231	DLG5	OMIM:620703
HP:0003121	Limb joint contracture	84942	WDR73	OMIM:251300
HP:0003121	Limb joint contracture	5830	PEX5	OMIM:214110
HP:0003121	Limb joint contracture	4952	OCRL	OMIM:309000
HP:0003121	Limb joint contracture	51715	RAB23	OMIM:201000
HP:0003121	Limb joint contracture	113179	ADAT3	ORPHA:363528
HP:0003121	Limb joint contracture	4920	ROR2	OMIM:113000
HP:0003121	Limb joint contracture	22880	MORC2	ORPHA:466768
HP:0003121	Limb joint contracture	9968	MED12	OMIM:305450
HP:0003121	Limb joint contracture	9215	LARGE1	OMIM:608840
HP:0003121	Limb joint contracture	139285	AMER1	OMIM:300373
HP:0003121	Limb joint contracture	8626	TP63	OMIM:603543
HP:0003121	Limb joint contracture	6497	SKI	OMIM:182212
HP:0003121	Limb joint contracture	10084	PQBP1	OMIM:309500
HP:0003121	Limb joint contracture	7390	UROS	OMIM:263700
HP:0003121	Limb joint contracture	4998	ORC1	OMIM:224690
HP:0003121	Limb joint contracture	1272	CNTN1	OMIM:612540
HP:0003121	Limb joint contracture	9487	PIGL	OMIM:280000
HP:0003121	Limb joint contracture	3572	IL6ST	OMIM:618523
HP:0003121	Limb joint contracture	2146	EZH2	OMIM:277590
HP:0003121	Limb joint contracture	7048	TGFBR2	OMIM:610168
HP:0003121	Limb joint contracture	147372	CCBE1	OMIM:235510
HP:0003121	Limb joint contracture	5077	PAX3	OMIM:148820
HP:0003121	Limb joint contracture	10195	ALG3	OMIM:601110
HP:0003121	Limb joint contracture	257	ALX3	OMIM:136760
HP:0003121	Limb joint contracture	3239	HOXD13	OMIM:186300
HP:0003121	Limb joint contracture	26053	AUTS2	ORPHA:352490
HP:0003121	Limb joint contracture	1301	COL11A1	OMIM:228520
HP:0003121	Limb joint contracture	91252	SLC39A13	OMIM:612350
HP:0003121	Limb joint contracture	57449	PLEKHG5	OMIM:611067
HP:0003121	Limb joint contracture	3178	HNRNPA1	OMIM:610099
HP:0003121	Limb joint contracture	54332	GDAP1	ORPHA:99948
HP:0003121	Limb joint contracture	5376	PMP22	ORPHA:90658
HP:0003121	Limb joint contracture	28982	FLVCR1	OMIM:609033
HP:0003121	Limb joint contracture	26227	PHGDH	OMIM:256520
HP:0003121	Limb joint contracture	1889	ECE1	OMIM:613870
HP:0003121	Limb joint contracture	6662	SOX9	OMIM:114290
HP:0003121	Limb joint contracture	3425	IDUA	OMIM:607015
HP:0003121	Limb joint contracture	4297	KMT2A	OMIM:605130
HP:0003121	Limb joint contracture	171023	ASXL1	ORPHA:97297
HP:0003121	Limb joint contracture	3861	KRT14	ORPHA:69087
HP:0003121	Limb joint contracture	5159	PDGFRB	OMIM:601812
HP:0003121	Limb joint contracture	2697	GJA1	ORPHA:1010
HP:0003121	Limb joint contracture	4747	NEFL	ORPHA:101085
HP:0003121	Limb joint contracture	64423	INF2	OMIM:614455
HP:0003121	Limb joint contracture	10397	NDRG1	OMIM:601455
HP:0003121	Limb joint contracture	3315	HSPB1	OMIM:606595
HP:0003121	Limb joint contracture	8566	PDXK	OMIM:618511
HP:0003121	Limb joint contracture	3098	HK1	OMIM:605285
HP:0003121	Limb joint contracture	79147	FKRP	OMIM:606612
HP:0003121	Limb joint contracture	3481	IGF2	OMIM:616489
HP:0003121	Limb joint contracture	84466	MEGF10	OMIM:620249
HP:0003121	Limb joint contracture	122622	ADSS1	ORPHA:482601
HP:0003121	Limb joint contracture	57038	RARS2	OMIM:611523
HP:0003121	Limb joint contracture	6263	RYR3	OMIM:620310
HP:0003121	Limb joint contracture	1353	COX11	OMIM:620275
HP:0003121	Limb joint contracture	84572	GNPTG	OMIM:252605
HP:0003121	Limb joint contracture	57282	SLC4A10	OMIM:620746
HP:0003121	Limb joint contracture	57731	SPTBN4	OMIM:617519
HP:0003121	Limb joint contracture	3181	HNRNPA2B1	OMIM:620460
HP:0003121	Limb joint contracture	9898	UBAP2L	OMIM:620494
HP:0003121	Limb joint contracture	10526	IPO8	OMIM:619472
HP:0003121	Limb joint contracture	5528	PPP2R5D	ORPHA:457279
HP:0003121	Limb joint contracture	8294	H4C9	OMIM:619951
HP:0003121	Limb joint contracture	1947	EFNB1	ORPHA:1520
HP:0003121	Limb joint contracture	118429	ANTXR2	ORPHA:2176
HP:0003121	Limb joint contracture	9241	NOG	ORPHA:3250
HP:0003121	Limb joint contracture	8200	GDF5	ORPHA:3250
HP:0003121	Limb joint contracture	54968	TMEM70	ORPHA:1194
HP:0003121	Limb joint contracture	613	BCR	ORPHA:261330
HP:0003121	Limb joint contracture	1399	CRKL	ORPHA:261330
HP:0003121	Limb joint contracture	5594	MAPK1	ORPHA:261330
HP:0003121	Limb joint contracture	72	ACTG2	ORPHA:2604
HP:0003121	Limb joint contracture	3508	IGHMBP2	OMIM:604320
HP:0003121	Limb joint contracture	51360	MBTPS2	ORPHA:2273
HP:0003121	Limb joint contracture	3423	IDS	ORPHA:217085
HP:0003121	Limb joint contracture	3423	IDS	ORPHA:217093
HP:0003121	Limb joint contracture	64359	NXN	ORPHA:1507
HP:0003121	Limb joint contracture	6999	TDO2	OMIM:600627
HP:0003121	Limb joint contracture	1302	COL11A2	ORPHA:2021
HP:0003121	Limb joint contracture	4929	NR4A2	ORPHA:1617
HP:0003121	Limb joint contracture	10716	TBR1	ORPHA:1617
HP:0003121	Limb joint contracture	56006	SMG9	OMIM:616920
HP:0003121	Limb joint contracture	1857	DVL3	ORPHA:3107
HP:0003121	Limb joint contracture	7474	WNT5A	ORPHA:3107
HP:0003121	Limb joint contracture	1855	DVL1	ORPHA:3107
HP:0003121	Limb joint contracture	2535	FZD2	ORPHA:3107
HP:0003121	Limb joint contracture	9508	ADAMTS3	ORPHA:2136
HP:0003121	Limb joint contracture	79633	FAT4	ORPHA:2136
HP:0003121	Limb joint contracture	5189	PEX1	ORPHA:3220
HP:0003121	Limb joint contracture	5190	PEX6	ORPHA:3220
HP:0003121	Limb joint contracture	5590	PRKCZ	ORPHA:1606
HP:0003121	Limb joint contracture	2563	GABRD	ORPHA:1606
HP:0003121	Limb joint contracture	23013	SPEN	ORPHA:1606
HP:0003121	Limb joint contracture	8510	MMP23B	ORPHA:1606
HP:0003121	Limb joint contracture	7798	LUZP1	ORPHA:1606
HP:0003121	Limb joint contracture	10630	PDPN	ORPHA:1606
HP:0003121	Limb joint contracture	10277	UBE4B	ORPHA:1606
HP:0003121	Limb joint contracture	8514	KCNAB2	ORPHA:1606
HP:0003121	Limb joint contracture	473	RERE	ORPHA:1606
HP:0003121	Limb joint contracture	63976	PRDM16	ORPHA:1606
HP:0003121	Limb joint contracture	54897	CASZ1	ORPHA:1606
HP:0003121	Limb joint contracture	8517	IKBKG	ORPHA:464
HP:0003121	Limb joint contracture	10436	EMG1	ORPHA:1270
HP:0003121	Limb joint contracture	57492	ARID1B	ORPHA:251056
HP:0003121	Limb joint contracture	11128	POLR3A	ORPHA:3455
HP:0003121	Limb joint contracture	2239	GPC4	ORPHA:373
HP:0003121	Limb joint contracture	2719	GPC3	ORPHA:373
HP:0003121	Limb joint contracture	55612	FERMT1	ORPHA:2908
HP:0003121	Limb joint contracture	23483	TGDS	ORPHA:1388
HP:0003121	Limb joint contracture	2260	FGFR1	OMIM:166250
HP:0003121	Limb joint contracture	7140	TNNT3	ORPHA:1146
HP:0003121	Limb joint contracture	7136	TNNI2	ORPHA:1146
HP:0003121	Limb joint contracture	7136	TNNI2	OMIM:601680
HP:0003121	Limb joint contracture	117581	TWIST2	ORPHA:920
HP:0003121	Limb joint contracture	23512	SUZ12	ORPHA:3447
HP:0003121	Limb joint contracture	1723	DHODH	ORPHA:246
HP:0003121	Limb joint contracture	54903	MKS1	OMIM:249000
HP:0003121	Limb joint contracture	22930	RAB3GAP1	OMIM:619420
HP:0003121	Limb joint contracture	7046	TGFBR1	ORPHA:60030
HP:0003121	Limb joint contracture	7042	TGFB2	ORPHA:60030
HP:0003121	Limb joint contracture	4087	SMAD2	ORPHA:60030
HP:0003121	Limb joint contracture	4088	SMAD3	ORPHA:60030
HP:0003121	Limb joint contracture	4088	SMAD3	ORPHA:284984
HP:0003121	Limb joint contracture	3897	L1CAM	ORPHA:2466
HP:0003121	Limb joint contracture	2245	FGD1	ORPHA:915
HP:0003121	Limb joint contracture	7227	TRPS1	ORPHA:77258
HP:0003121	Limb joint contracture	27238	GPKOW	ORPHA:2570
HP:0003121	Limb joint contracture	2068	ERCC2	OMIM:610756
HP:0003121	Limb joint contracture	2068	ERCC2	ORPHA:1466
HP:0003121	Limb joint contracture	65109	UPF3B	ORPHA:776
HP:0003121	Limb joint contracture	114548	NLRP3	ORPHA:575
HP:0003121	Limb joint contracture	2073	ERCC5	ORPHA:1466
HP:0003121	Limb joint contracture	134701	RIPPLY2	ORPHA:2311
HP:0003121	Limb joint contracture	10683	DLL3	ORPHA:2311
HP:0003121	Limb joint contracture	3955	LFNG	ORPHA:2311
HP:0003121	Limb joint contracture	84667	HES7	ORPHA:2311
HP:0003121	Limb joint contracture	145873	MESP2	ORPHA:2311
HP:0003121	Limb joint contracture	81620	CDT1	ORPHA:2554
HP:0003121	Limb joint contracture	5000	ORC4	ORPHA:2554
HP:0003121	Limb joint contracture	23594	ORC6	ORPHA:2554
HP:0003121	Limb joint contracture	8318	CDC45	ORPHA:2554
HP:0003121	Limb joint contracture	990	CDC6	ORPHA:2554
HP:0003121	Limb joint contracture	51053	GMNN	ORPHA:2554
HP:0003121	Limb joint contracture	64327	LMBR1	ORPHA:93405
HP:0003121	Limb joint contracture	6469	SHH	ORPHA:93405
HP:0003121	Limb joint contracture	55605	KIF21A	ORPHA:994
HP:0003121	Limb joint contracture	4927	NUP88	ORPHA:994
HP:0003121	Limb joint contracture	7846	TUBA1A	ORPHA:994
HP:0003121	Limb joint contracture	4654	MYOD1	ORPHA:994
HP:0003121	Limb joint contracture	54551	MAGEL2	ORPHA:994
HP:0003121	Limb joint contracture	5913	RAPSN	ORPHA:994
HP:0003121	Limb joint contracture	285489	DOK7	ORPHA:994
HP:0003121	Limb joint contracture	3914	LAMB3	OMIM:226650
HP:0003121	Limb joint contracture	8092	ALX1	ORPHA:306542
HP:0003121	Limb joint contracture	64840	PORCN	ORPHA:2092
HP:0003121	Limb joint contracture	23443	SLC35A3	OMIM:615553
HP:0003121	Limb joint contracture	285590	SH3PXD2B	ORPHA:137834
HP:0003121	Limb joint contracture	9935	MAFB	ORPHA:2774
HP:0003121	Limb joint contracture	28952	CCDC22	OMIM:300963
HP:0003121	Limb joint contracture	8450	CUL4B	ORPHA:85293
HP:0003121	Limb joint contracture	8242	KDM5C	ORPHA:85279
HP:0003121	Limb joint contracture	26123	TCTN3	ORPHA:2753
HP:0003121	Limb joint contracture	64131	XYLT1	ORPHA:1425
HP:0003121	Limb joint contracture	124583	CANT1	ORPHA:1425
HP:0003121	Limb joint contracture	55790	CSGALNACT1	ORPHA:1425
HP:0003121	Limb joint contracture	23529	CLCF1	ORPHA:1545
HP:0003121	Limb joint contracture	79693	YRDC	ORPHA:2065
HP:0003121	Limb joint contracture	51002	TPRKB	ORPHA:2065
HP:0003121	Limb joint contracture	55644	OSGEP	ORPHA:2065
HP:0003121	Limb joint contracture	57122	NUP107	ORPHA:2065
HP:0003121	Limb joint contracture	10785	WDR4	ORPHA:2065
HP:0003121	Limb joint contracture	55746	NUP133	ORPHA:2065
HP:0003121	Limb joint contracture	84520	GON7	ORPHA:2065
HP:0003121	Limb joint contracture	112858	TP53RK	ORPHA:2065
HP:0003121	Limb joint contracture	8270	LAGE3	ORPHA:2065
HP:0003121	Limb joint contracture	56916	SMARCAD1	ORPHA:1658
HP:0005632	Absent forearm	64327	LMBR1	OMIM:200500
HP:0002756	Pathologic fracture	171023	ASXL1	ORPHA:98850
HP:0002756	Pathologic fracture	54790	TET2	ORPHA:98850
HP:0002756	Pathologic fracture	867	CBL	ORPHA:98850
HP:0002756	Pathologic fracture	861	RUNX1	ORPHA:98850
HP:0002756	Pathologic fracture	6427	SRSF2	ORPHA:98850
HP:0002756	Pathologic fracture	9056	SLC7A7	ORPHA:470
HP:0002756	Pathologic fracture	595	CCND1	ORPHA:29073
HP:0002756	Pathologic fracture	2778	GNAS	OMIM:174800
HP:0002756	Pathologic fracture	10312	TCIRG1	OMIM:259700
HP:0002756	Pathologic fracture	249	ALPL	OMIM:146300
HP:0002756	Pathologic fracture	9401	RECQL4	ORPHA:221016
HP:0002756	Pathologic fracture	189	AGXT	OMIM:259900
HP:0002756	Pathologic fracture	540	ATP7B	ORPHA:905
HP:0002756	Pathologic fracture	4952	OCRL	OMIM:309000
HP:0002756	Pathologic fracture	7157	TP53	ORPHA:668
HP:0002756	Pathologic fracture	5925	RB1	ORPHA:668
HP:0002756	Pathologic fracture	11200	CHEK2	ORPHA:668
HP:0002756	Pathologic fracture	54209	TREM2	OMIM:618193
HP:0002756	Pathologic fracture	2629	GBA1	OMIM:230800
HP:0002756	Pathologic fracture	2629	GBA1	ORPHA:77259
HP:0002756	Pathologic fracture	51124	IER3IP1	OMIM:614231
HP:0002756	Pathologic fracture	8792	TNFRSF11A	OMIM:174810
HP:0002756	Pathologic fracture	4233	MET	OMIM:607278
HP:0002756	Pathologic fracture	4041	LRP5	OMIM:259770
HP:0002756	Pathologic fracture	79158	GNPTAB	OMIM:252500
HP:0002756	Pathologic fracture	2710	GK	OMIM:307030
HP:0002756	Pathologic fracture	3178	HNRNPA1	ORPHA:52430
HP:0002756	Pathologic fracture	7415	VCP	ORPHA:52430
HP:0002756	Pathologic fracture	3181	HNRNPA2B1	ORPHA:52430
HP:0002756	Pathologic fracture	126792	B3GALT6	OMIM:271640
HP:0002756	Pathologic fracture	5745	PTH1R	ORPHA:296
HP:0002756	Pathologic fracture	5745	PTH1R	OMIM:156400
HP:0002756	Pathologic fracture	3418	IDH2	ORPHA:296
HP:0002756	Pathologic fracture	3417	IDH1	ORPHA:296
HP:0002756	Pathologic fracture	6609	SMPD1	ORPHA:77293
HP:0002756	Pathologic fracture	7390	UROS	OMIM:263700
HP:0002756	Pathologic fracture	142680	SLC34A3	ORPHA:157215
HP:0002756	Pathologic fracture	6569	SLC34A1	ORPHA:157215
HP:0002756	Pathologic fracture	6521	SLC4A1	OMIM:179800
HP:0002756	Pathologic fracture	4853	NOTCH2	OMIM:102500
HP:0002756	Pathologic fracture	8815	BANF1	OMIM:614008
HP:0002756	Pathologic fracture	4052	LTBP1	ORPHA:90349
HP:0002756	Pathologic fracture	30008	EFEMP2	ORPHA:90349
HP:0002756	Pathologic fracture	10516	FBLN5	ORPHA:90349
HP:0002756	Pathologic fracture	6522	SLC4A2	OMIM:620366
HP:0002756	Pathologic fracture	3977	LIFR	OMIM:601559
HP:0002756	Pathologic fracture	4507	MTAP	OMIM:112250
HP:0002756	Pathologic fracture	7305	TYROBP	OMIM:221770
HP:0002756	Pathologic fracture	8985	PLOD3	OMIM:612394
HP:0002756	Pathologic fracture	80169	CTC1	OMIM:612199
HP:0002756	Pathologic fracture	175	AGA	OMIM:208400
HP:0002756	Pathologic fracture	567	B2M	ORPHA:314652
HP:0002756	Pathologic fracture	950	SCARB2	ORPHA:77259
HP:0002756	Pathologic fracture	4613	MYCN	ORPHA:635
HP:0002756	Pathologic fracture	238	ALK	ORPHA:635
HP:0002756	Pathologic fracture	389421	LIN28B	ORPHA:635
HP:0002756	Pathologic fracture	4004	LMO1	ORPHA:635
HP:0002756	Pathologic fracture	57531	HACE1	ORPHA:635
HP:0002756	Pathologic fracture	8929	PHOX2B	ORPHA:635
HP:0002756	Pathologic fracture	10558	SPTLC1	ORPHA:36386
HP:0002756	Pathologic fracture	25923	ATL3	ORPHA:36386
HP:0002756	Pathologic fracture	9517	SPTLC2	ORPHA:36386
HP:0002756	Pathologic fracture	51062	ATL1	ORPHA:36386
HP:0010930	Abnormal blood monovalent inorganic cation concentration	29927	SEC61A1	OMIM:617056
HP:0010930	Abnormal blood monovalent inorganic cation concentration	6261	RYR1	ORPHA:466650
HP:0010930	Abnormal blood monovalent inorganic cation concentration	6261	RYR1	ORPHA:423
HP:0010930	Abnormal blood monovalent inorganic cation concentration	6261	RYR1	OMIM:145600
HP:0010930	Abnormal blood monovalent inorganic cation concentration	10058	ABCB6	ORPHA:90044
HP:0010930	Abnormal blood monovalent inorganic cation concentration	10058	ABCB6	OMIM:609153
HP:0010930	Abnormal blood monovalent inorganic cation concentration	100134444	KCNJ18	ORPHA:79102
HP:0010930	Abnormal blood monovalent inorganic cation concentration	2556	GABRA3	ORPHA:79102
HP:0010930	Abnormal blood monovalent inorganic cation concentration	779	CACNA1S	ORPHA:79102
HP:0010930	Abnormal blood monovalent inorganic cation concentration	779	CACNA1S	ORPHA:423
HP:0010930	Abnormal blood monovalent inorganic cation concentration	23175	LPIN1	OMIM:268200
HP:0010930	Abnormal blood monovalent inorganic cation concentration	23175	LPIN1	ORPHA:99845
HP:0010930	Abnormal blood monovalent inorganic cation concentration	84033	OBSCN	ORPHA:99845
HP:0010930	Abnormal blood monovalent inorganic cation concentration	4512	MT-CO1	ORPHA:99845
HP:0010930	Abnormal blood monovalent inorganic cation concentration	4514	MT-CO3	ORPHA:99845
HP:0010930	Abnormal blood monovalent inorganic cation concentration	6513	SLC2A1	OMIM:608885
HP:0010930	Abnormal blood monovalent inorganic cation concentration	10463	SLC30A9	OMIM:617595
HP:0010930	Abnormal blood monovalent inorganic cation concentration	11232	POLG2	OMIM:618528
HP:0010930	Abnormal blood monovalent inorganic cation concentration	6522	SLC4A2	OMIM:620366
HP:0010930	Abnormal blood monovalent inorganic cation concentration	226	ALDOA	ORPHA:57
HP:0010930	Abnormal blood monovalent inorganic cation concentration	65266	WNK4	OMIM:614491
HP:0010930	Abnormal blood monovalent inorganic cation concentration	65125	WNK1	OMIM:614492
HP:0010930	Abnormal blood monovalent inorganic cation concentration	26249	KLHL3	OMIM:614495
HP:0010930	Abnormal blood monovalent inorganic cation concentration	8452	CUL3	OMIM:614496
HP:0010930	Abnormal blood monovalent inorganic cation concentration	27130	INVS	OMIM:602088
HP:0010930	Abnormal blood monovalent inorganic cation concentration	435	ASL	ORPHA:23
HP:0010930	Abnormal blood monovalent inorganic cation concentration	5311	PKD2	OMIM:613095
HP:0010930	Abnormal blood monovalent inorganic cation concentration	776	CACNA1D	OMIM:615474
HP:0010930	Abnormal blood monovalent inorganic cation concentration	776	CACNA1D	ORPHA:369929
HP:0010930	Abnormal blood monovalent inorganic cation concentration	3643	INSR	ORPHA:508
HP:0010930	Abnormal blood monovalent inorganic cation concentration	3643	INSR	ORPHA:769
HP:0010930	Abnormal blood monovalent inorganic cation concentration	3291	HSD11B2	OMIM:218030
HP:0010930	Abnormal blood monovalent inorganic cation concentration	3291	HSD11B2	ORPHA:320
HP:0010930	Abnormal blood monovalent inorganic cation concentration	2908	NR3C1	ORPHA:786
HP:0010930	Abnormal blood monovalent inorganic cation concentration	3766	KCNJ10	ORPHA:199343
HP:0010930	Abnormal blood monovalent inorganic cation concentration	3766	KCNJ10	OMIM:612780
HP:0010930	Abnormal blood monovalent inorganic cation concentration	6514	SLC2A2	OMIM:227810
HP:0010930	Abnormal blood monovalent inorganic cation concentration	2628	GATM	OMIM:134600
HP:0010930	Abnormal blood monovalent inorganic cation concentration	2628	GATM	ORPHA:3337
HP:0010930	Abnormal blood monovalent inorganic cation concentration	1584	CYP11B1	OMIM:202010
HP:0010930	Abnormal blood monovalent inorganic cation concentration	1584	CYP11B1	ORPHA:90795
HP:0010930	Abnormal blood monovalent inorganic cation concentration	1584	CYP11B1	ORPHA:403
HP:0010930	Abnormal blood monovalent inorganic cation concentration	476	ATP1A1	OMIM:618314
HP:0010930	Abnormal blood monovalent inorganic cation concentration	866	SERPINA6	OMIM:611489
HP:0010930	Abnormal blood monovalent inorganic cation concentration	1586	CYP17A1	ORPHA:90793
HP:0010930	Abnormal blood monovalent inorganic cation concentration	1962	EHHADH	ORPHA:3337
HP:0010930	Abnormal blood monovalent inorganic cation concentration	137682	NDUFAF6	ORPHA:3337
HP:0010930	Abnormal blood monovalent inorganic cation concentration	6569	SLC34A1	ORPHA:3337
HP:0010930	Abnormal blood monovalent inorganic cation concentration	801	CALM1	ORPHA:101016
HP:0010930	Abnormal blood monovalent inorganic cation concentration	3753	KCNE1	ORPHA:101016
HP:0010930	Abnormal blood monovalent inorganic cation concentration	3762	KCNJ5	ORPHA:101016
HP:0010930	Abnormal blood monovalent inorganic cation concentration	3762	KCNJ5	OMIM:613677
HP:0010930	Abnormal blood monovalent inorganic cation concentration	3762	KCNJ5	ORPHA:251274
HP:0010930	Abnormal blood monovalent inorganic cation concentration	805	CALM2	ORPHA:101016
HP:0010930	Abnormal blood monovalent inorganic cation concentration	6910	TBX5	ORPHA:101016
HP:0010930	Abnormal blood monovalent inorganic cation concentration	6336	SCN10A	ORPHA:101016
HP:0010930	Abnormal blood monovalent inorganic cation concentration	3757	KCNH2	ORPHA:101016
HP:0010930	Abnormal blood monovalent inorganic cation concentration	9992	KCNE2	ORPHA:101016
HP:0010930	Abnormal blood monovalent inorganic cation concentration	10142	AKAP9	ORPHA:101016
HP:0010930	Abnormal blood monovalent inorganic cation concentration	9722	NOS1AP	ORPHA:101016
HP:0010930	Abnormal blood monovalent inorganic cation concentration	775	CACNA1C	ORPHA:101016
HP:0010930	Abnormal blood monovalent inorganic cation concentration	3784	KCNQ1	ORPHA:101016
HP:0010930	Abnormal blood monovalent inorganic cation concentration	10345	TRDN	ORPHA:101016
HP:0010930	Abnormal blood monovalent inorganic cation concentration	6331	SCN5A	ORPHA:101016
HP:0010930	Abnormal blood monovalent inorganic cation concentration	6330	SCN4B	ORPHA:101016
HP:0010930	Abnormal blood monovalent inorganic cation concentration	808	CALM3	ORPHA:101016
HP:0010930	Abnormal blood monovalent inorganic cation concentration	6640	SNTA1	ORPHA:101016
HP:0010930	Abnormal blood monovalent inorganic cation concentration	859	CAV3	ORPHA:101016
HP:0010930	Abnormal blood monovalent inorganic cation concentration	287	ANK2	ORPHA:101016
HP:0010930	Abnormal blood monovalent inorganic cation concentration	8671	SLC4A4	OMIM:604278
HP:0010930	Abnormal blood monovalent inorganic cation concentration	486	FXYD2	OMIM:154020
HP:0010930	Abnormal blood monovalent inorganic cation concentration	9071	CLDN10	OMIM:617671
HP:0010930	Abnormal blood monovalent inorganic cation concentration	55898	UNC45A	OMIM:619377
HP:0010930	Abnormal blood monovalent inorganic cation concentration	657	BMPR1A	OMIM:174900
HP:0010930	Abnormal blood monovalent inorganic cation concentration	4089	SMAD4	OMIM:174900
HP:0010930	Abnormal blood monovalent inorganic cation concentration	50619	DEF6	OMIM:619573
HP:0010930	Abnormal blood monovalent inorganic cation concentration	3759	KCNJ2	OMIM:170390
HP:0010930	Abnormal blood monovalent inorganic cation concentration	1181	CLCN2	ORPHA:404
HP:0010930	Abnormal blood monovalent inorganic cation concentration	1181	CLCN2	OMIM:605635
HP:0010930	Abnormal blood monovalent inorganic cation concentration	84133	ZNRF3	ORPHA:1501
HP:0010930	Abnormal blood monovalent inorganic cation concentration	7157	TP53	ORPHA:1501
HP:0010930	Abnormal blood monovalent inorganic cation concentration	5573	PRKAR1A	ORPHA:1501
HP:0010930	Abnormal blood monovalent inorganic cation concentration	1499	CTNNB1	ORPHA:1501
HP:0010930	Abnormal blood monovalent inorganic cation concentration	1029	CDKN2A	ORPHA:1501
HP:0010930	Abnormal blood monovalent inorganic cation concentration	7015	TERT	ORPHA:1501
HP:0010930	Abnormal blood monovalent inorganic cation concentration	846	CASR	OMIM:601198
HP:0010930	Abnormal blood monovalent inorganic cation concentration	50617	ATP6V0A4	OMIM:602722
HP:0010930	Abnormal blood monovalent inorganic cation concentration	6557	SLC12A1	OMIM:601678
HP:0010930	Abnormal blood monovalent inorganic cation concentration	1281	COL3A1	ORPHA:286
HP:0010930	Abnormal blood monovalent inorganic cation concentration	3758	KCNJ1	OMIM:241200
HP:0010930	Abnormal blood monovalent inorganic cation concentration	64072	CDH23	ORPHA:91347
HP:0010930	Abnormal blood monovalent inorganic cation concentration	6559	SLC12A3	OMIM:263800
HP:0010930	Abnormal blood monovalent inorganic cation concentration	6559	SLC12A3	ORPHA:358
HP:0010930	Abnormal blood monovalent inorganic cation concentration	9049	AIP	OMIM:219090
HP:0010930	Abnormal blood monovalent inorganic cation concentration	9101	USP8	OMIM:219090
HP:0010930	Abnormal blood monovalent inorganic cation concentration	83483	PLVAP	OMIM:618183
HP:0010930	Abnormal blood monovalent inorganic cation concentration	1497	CTNS	OMIM:219800
HP:0010930	Abnormal blood monovalent inorganic cation concentration	1497	CTNS	ORPHA:411634
HP:0010930	Abnormal blood monovalent inorganic cation concentration	7809	BSND	ORPHA:89938
HP:0010930	Abnormal blood monovalent inorganic cation concentration	7809	BSND	OMIM:602522
HP:0010930	Abnormal blood monovalent inorganic cation concentration	1188	CLCNKB	ORPHA:89938
HP:0010930	Abnormal blood monovalent inorganic cation concentration	1188	CLCNKB	OMIM:613090
HP:0010930	Abnormal blood monovalent inorganic cation concentration	1187	CLCNKA	ORPHA:89938
HP:0010930	Abnormal blood monovalent inorganic cation concentration	1187	CLCNKA	OMIM:613090
HP:0010930	Abnormal blood monovalent inorganic cation concentration	5076	PAX2	ORPHA:97362
HP:0010930	Abnormal blood monovalent inorganic cation concentration	5087	PBX1	ORPHA:97362
HP:0010930	Abnormal blood monovalent inorganic cation concentration	4791	NFKB2	ORPHA:293978
HP:0010930	Abnormal blood monovalent inorganic cation concentration	5447	POR	OMIM:201750
HP:0010930	Abnormal blood monovalent inorganic cation concentration	54809	SAMD9	OMIM:617053
HP:0010930	Abnormal blood monovalent inorganic cation concentration	54914	FOCAD	OMIM:619991
HP:0010930	Abnormal blood monovalent inorganic cation concentration	8518	ELP1	ORPHA:1764
HP:0010930	Abnormal blood monovalent inorganic cation concentration	8021	NUP214	OMIM:618426
HP:0010930	Abnormal blood monovalent inorganic cation concentration	10102	TSFM	OMIM:610505
HP:0010930	Abnormal blood monovalent inorganic cation concentration	5551	PRF1	OMIM:603553
HP:0010930	Abnormal blood monovalent inorganic cation concentration	190	NR0B1	OMIM:300200
HP:0010930	Abnormal blood monovalent inorganic cation concentration	190	NR0B1	ORPHA:95702
HP:0010930	Abnormal blood monovalent inorganic cation concentration	6340	SCNN1G	ORPHA:171876
HP:0010930	Abnormal blood monovalent inorganic cation concentration	6340	SCNN1G	OMIM:620126
HP:0010930	Abnormal blood monovalent inorganic cation concentration	6337	SCNN1A	ORPHA:171876
HP:0010930	Abnormal blood monovalent inorganic cation concentration	6337	SCNN1A	OMIM:264350
HP:0010930	Abnormal blood monovalent inorganic cation concentration	6338	SCNN1B	ORPHA:171876
HP:0010930	Abnormal blood monovalent inorganic cation concentration	6338	SCNN1B	OMIM:620125
HP:0010930	Abnormal blood monovalent inorganic cation concentration	130340	AP1S3	ORPHA:247353
HP:0010930	Abnormal blood monovalent inorganic cation concentration	26525	IL36RN	ORPHA:247353
HP:0010930	Abnormal blood monovalent inorganic cation concentration	4306	NR3C2	OMIM:177735
HP:0010930	Abnormal blood monovalent inorganic cation concentration	1811	SLC26A3	OMIM:214700
HP:0010930	Abnormal blood monovalent inorganic cation concentration	29072	SETD2	OMIM:620157
HP:0010930	Abnormal blood monovalent inorganic cation concentration	29072	SETD2	OMIM:620155
HP:0010930	Abnormal blood monovalent inorganic cation concentration	3662	IRF4	ORPHA:3452
HP:0010930	Abnormal blood monovalent inorganic cation concentration	471	ATIC	OMIM:608688
HP:0010930	Abnormal blood monovalent inorganic cation concentration	3284	HSD3B2	ORPHA:90791
HP:0010930	Abnormal blood monovalent inorganic cation concentration	3284	HSD3B2	OMIM:201810
HP:0010930	Abnormal blood monovalent inorganic cation concentration	4952	OCRL	ORPHA:534
HP:0010930	Abnormal blood monovalent inorganic cation concentration	199221	DZIP1L	ORPHA:731
HP:0010930	Abnormal blood monovalent inorganic cation concentration	5314	PKHD1	ORPHA:731
HP:0010930	Abnormal blood monovalent inorganic cation concentration	771	CA12	OMIM:143860
HP:0010930	Abnormal blood monovalent inorganic cation concentration	58528	RRAGD	OMIM:620152
HP:0010930	Abnormal blood monovalent inorganic cation concentration	10916	MAGED2	OMIM:300971
HP:0010930	Abnormal blood monovalent inorganic cation concentration	9095	TBX19	ORPHA:199296
HP:0010930	Abnormal blood monovalent inorganic cation concentration	210	ALAD	ORPHA:100924
HP:0010930	Abnormal blood monovalent inorganic cation concentration	554	AVPR2	OMIM:300539
HP:0010930	Abnormal blood monovalent inorganic cation concentration	1583	CYP11A1	ORPHA:168558
HP:0010930	Abnormal blood monovalent inorganic cation concentration	1583	CYP11A1	ORPHA:289548
HP:0010930	Abnormal blood monovalent inorganic cation concentration	50628	GEMIN4	OMIM:617913
HP:0010930	Abnormal blood monovalent inorganic cation concentration	1585	CYP11B2	OMIM:203400
HP:0010930	Abnormal blood monovalent inorganic cation concentration	1585	CYP11B2	OMIM:610600
HP:0010930	Abnormal blood monovalent inorganic cation concentration	1585	CYP11B2	ORPHA:556030
HP:0010930	Abnormal blood monovalent inorganic cation concentration	51567	TDP2	OMIM:616949
HP:0010930	Abnormal blood monovalent inorganic cation concentration	79087	ALG12	ORPHA:79324
HP:0010930	Abnormal blood monovalent inorganic cation concentration	9451	EIF2AK3	ORPHA:1667
HP:0010930	Abnormal blood monovalent inorganic cation concentration	79053	ALG8	ORPHA:79325
HP:0010930	Abnormal blood monovalent inorganic cation concentration	1130	LYST	ORPHA:167
HP:0010930	Abnormal blood monovalent inorganic cation concentration	56246	MRAP	ORPHA:361
HP:0010930	Abnormal blood monovalent inorganic cation concentration	6770	STAR	ORPHA:361
HP:0010930	Abnormal blood monovalent inorganic cation concentration	4158	MC2R	ORPHA:361
HP:0010930	Abnormal blood monovalent inorganic cation concentration	23530	NNT	ORPHA:361
HP:0010930	Abnormal blood monovalent inorganic cation concentration	23530	NNT	OMIM:614736
HP:0010930	Abnormal blood monovalent inorganic cation concentration	10587	TXNRD2	ORPHA:361
HP:0010930	Abnormal blood monovalent inorganic cation concentration	4714	NDUFB8	OMIM:618252
HP:0010930	Abnormal blood monovalent inorganic cation concentration	1371	CPOX	ORPHA:79273
HP:0010930	Abnormal blood monovalent inorganic cation concentration	5498	PPOX	ORPHA:79473
HP:0010930	Abnormal blood monovalent inorganic cation concentration	54938	SARS2	OMIM:613845
HP:0010930	Abnormal blood monovalent inorganic cation concentration	3145	HMBS	ORPHA:79276
HP:0010930	Abnormal blood monovalent inorganic cation concentration	7187	TRAF3	ORPHA:1930
HP:0010930	Abnormal blood monovalent inorganic cation concentration	81622	UNC93B1	ORPHA:1930
HP:0010930	Abnormal blood monovalent inorganic cation concentration	148022	TICAM1	ORPHA:1930
HP:0010930	Abnormal blood monovalent inorganic cation concentration	7098	TLR3	ORPHA:1930
HP:0010930	Abnormal blood monovalent inorganic cation concentration	29110	TBK1	ORPHA:1930
HP:0010930	Abnormal blood monovalent inorganic cation concentration	6850	SYK	OMIM:619381
HP:0010930	Abnormal blood monovalent inorganic cation concentration	359	AQP2	ORPHA:223
HP:0010930	Abnormal blood monovalent inorganic cation concentration	359	AQP2	OMIM:125800
HP:0010930	Abnormal blood monovalent inorganic cation concentration	2260	FGFR1	OMIM:615465
HP:0010930	Abnormal blood monovalent inorganic cation concentration	763	CA5A	OMIM:615751
HP:0010930	Abnormal blood monovalent inorganic cation concentration	2653	GCSH	OMIM:620423
HP:0010930	Abnormal blood monovalent inorganic cation concentration	1828	DSG1	OMIM:615508
HP:0010930	Abnormal blood monovalent inorganic cation concentration	9915	ARNT2	OMIM:615926
HP:0010930	Abnormal blood monovalent inorganic cation concentration	6523	SLC5A1	ORPHA:35710
HP:0010930	Abnormal blood monovalent inorganic cation concentration	78987	CRELD1	OMIM:620771
HP:0010930	Abnormal blood monovalent inorganic cation concentration	6550	SLC9A3	OMIM:616868
HP:0010930	Abnormal blood monovalent inorganic cation concentration	6329	SCN4A	ORPHA:684
HP:0010930	Abnormal blood monovalent inorganic cation concentration	6521	SLC4A1	ORPHA:3202
HP:0010930	Abnormal blood monovalent inorganic cation concentration	9780	PIEZO1	ORPHA:3202
HP:0010930	Abnormal blood monovalent inorganic cation concentration	3783	KCNN4	ORPHA:3202
HP:0010930	Abnormal blood monovalent inorganic cation concentration	10008	KCNE3	ORPHA:681
HP:0010931	Abnormal blood sodium concentration	83483	PLVAP	OMIM:618183
HP:0010931	Abnormal blood sodium concentration	1497	CTNS	OMIM:219800
HP:0010931	Abnormal blood sodium concentration	1497	CTNS	ORPHA:411634
HP:0010931	Abnormal blood sodium concentration	7809	BSND	ORPHA:89938
HP:0010931	Abnormal blood sodium concentration	7809	BSND	OMIM:602522
HP:0010931	Abnormal blood sodium concentration	1188	CLCNKB	ORPHA:89938
HP:0010931	Abnormal blood sodium concentration	1188	CLCNKB	OMIM:613090
HP:0010931	Abnormal blood sodium concentration	1187	CLCNKA	ORPHA:89938
HP:0010931	Abnormal blood sodium concentration	1187	CLCNKA	OMIM:613090
HP:0010931	Abnormal blood sodium concentration	5076	PAX2	ORPHA:97362
HP:0010931	Abnormal blood sodium concentration	5087	PBX1	ORPHA:97362
HP:0010931	Abnormal blood sodium concentration	4791	NFKB2	ORPHA:293978
HP:0010931	Abnormal blood sodium concentration	5447	POR	OMIM:201750
HP:0010931	Abnormal blood sodium concentration	54809	SAMD9	OMIM:617053
HP:0010931	Abnormal blood sodium concentration	54914	FOCAD	OMIM:619991
HP:0010931	Abnormal blood sodium concentration	8518	ELP1	ORPHA:1764
HP:0010931	Abnormal blood sodium concentration	8021	NUP214	OMIM:618426
HP:0010931	Abnormal blood sodium concentration	10102	TSFM	OMIM:610505
HP:0010931	Abnormal blood sodium concentration	5551	PRF1	OMIM:603553
HP:0010931	Abnormal blood sodium concentration	190	NR0B1	OMIM:300200
HP:0010931	Abnormal blood sodium concentration	190	NR0B1	ORPHA:95702
HP:0010931	Abnormal blood sodium concentration	6340	SCNN1G	ORPHA:171876
HP:0010931	Abnormal blood sodium concentration	6340	SCNN1G	OMIM:620126
HP:0010931	Abnormal blood sodium concentration	6337	SCNN1A	ORPHA:171876
HP:0010931	Abnormal blood sodium concentration	6337	SCNN1A	OMIM:264350
HP:0010931	Abnormal blood sodium concentration	6338	SCNN1B	ORPHA:171876
HP:0010931	Abnormal blood sodium concentration	6338	SCNN1B	OMIM:620125
HP:0010931	Abnormal blood sodium concentration	130340	AP1S3	ORPHA:247353
HP:0010931	Abnormal blood sodium concentration	26525	IL36RN	ORPHA:247353
HP:0010931	Abnormal blood sodium concentration	4306	NR3C2	OMIM:177735
HP:0010931	Abnormal blood sodium concentration	1811	SLC26A3	OMIM:214700
HP:0010931	Abnormal blood sodium concentration	29072	SETD2	OMIM:620157
HP:0010931	Abnormal blood sodium concentration	29072	SETD2	OMIM:620155
HP:0010931	Abnormal blood sodium concentration	3662	IRF4	ORPHA:3452
HP:0010931	Abnormal blood sodium concentration	471	ATIC	OMIM:608688
HP:0010931	Abnormal blood sodium concentration	3284	HSD3B2	ORPHA:90791
HP:0010931	Abnormal blood sodium concentration	3284	HSD3B2	OMIM:201810
HP:0010931	Abnormal blood sodium concentration	4952	OCRL	ORPHA:534
HP:0010931	Abnormal blood sodium concentration	199221	DZIP1L	ORPHA:731
HP:0010931	Abnormal blood sodium concentration	5314	PKHD1	ORPHA:731
HP:0010931	Abnormal blood sodium concentration	771	CA12	OMIM:143860
HP:0010931	Abnormal blood sodium concentration	58528	RRAGD	OMIM:620152
HP:0010931	Abnormal blood sodium concentration	10916	MAGED2	OMIM:300971
HP:0010931	Abnormal blood sodium concentration	9095	TBX19	ORPHA:199296
HP:0010931	Abnormal blood sodium concentration	210	ALAD	ORPHA:100924
HP:0010931	Abnormal blood sodium concentration	554	AVPR2	OMIM:300539
HP:0010931	Abnormal blood sodium concentration	1583	CYP11A1	ORPHA:168558
HP:0010931	Abnormal blood sodium concentration	1583	CYP11A1	ORPHA:289548
HP:0010931	Abnormal blood sodium concentration	50628	GEMIN4	OMIM:617913
HP:0010931	Abnormal blood sodium concentration	1585	CYP11B2	OMIM:203400
HP:0010931	Abnormal blood sodium concentration	1585	CYP11B2	OMIM:610600
HP:0010931	Abnormal blood sodium concentration	1585	CYP11B2	ORPHA:556030
HP:0010931	Abnormal blood sodium concentration	51567	TDP2	OMIM:616949
HP:0010931	Abnormal blood sodium concentration	79087	ALG12	ORPHA:79324
HP:0010931	Abnormal blood sodium concentration	9451	EIF2AK3	ORPHA:1667
HP:0010931	Abnormal blood sodium concentration	79053	ALG8	ORPHA:79325
HP:0010931	Abnormal blood sodium concentration	1130	LYST	ORPHA:167
HP:0010931	Abnormal blood sodium concentration	56246	MRAP	ORPHA:361
HP:0010931	Abnormal blood sodium concentration	6770	STAR	ORPHA:361
HP:0010931	Abnormal blood sodium concentration	4158	MC2R	ORPHA:361
HP:0010931	Abnormal blood sodium concentration	23530	NNT	ORPHA:361
HP:0010931	Abnormal blood sodium concentration	23530	NNT	OMIM:614736
HP:0010931	Abnormal blood sodium concentration	10587	TXNRD2	ORPHA:361
HP:0010931	Abnormal blood sodium concentration	6329	SCN4A	ORPHA:682
HP:0010931	Abnormal blood sodium concentration	4714	NDUFB8	OMIM:618252
HP:0010931	Abnormal blood sodium concentration	1371	CPOX	ORPHA:79273
HP:0010931	Abnormal blood sodium concentration	5498	PPOX	ORPHA:79473
HP:0010931	Abnormal blood sodium concentration	54938	SARS2	OMIM:613845
HP:0010931	Abnormal blood sodium concentration	3145	HMBS	ORPHA:79276
HP:0010931	Abnormal blood sodium concentration	7187	TRAF3	ORPHA:1930
HP:0010931	Abnormal blood sodium concentration	81622	UNC93B1	ORPHA:1930
HP:0010931	Abnormal blood sodium concentration	148022	TICAM1	ORPHA:1930
HP:0010931	Abnormal blood sodium concentration	7098	TLR3	ORPHA:1930
HP:0010931	Abnormal blood sodium concentration	29110	TBK1	ORPHA:1930
HP:0010931	Abnormal blood sodium concentration	6850	SYK	OMIM:619381
HP:0010931	Abnormal blood sodium concentration	359	AQP2	ORPHA:223
HP:0010931	Abnormal blood sodium concentration	359	AQP2	OMIM:125800
HP:0010931	Abnormal blood sodium concentration	2260	FGFR1	OMIM:615465
HP:0010931	Abnormal blood sodium concentration	763	CA5A	OMIM:615751
HP:0010931	Abnormal blood sodium concentration	2653	GCSH	OMIM:620423
HP:0010931	Abnormal blood sodium concentration	1828	DSG1	OMIM:615508
HP:0010931	Abnormal blood sodium concentration	9915	ARNT2	OMIM:615926
HP:0010931	Abnormal blood sodium concentration	6523	SLC5A1	ORPHA:35710
HP:0010931	Abnormal blood sodium concentration	78987	CRELD1	OMIM:620771
HP:0010931	Abnormal blood sodium concentration	6550	SLC9A3	OMIM:616868
HP:0010932	Abnormal circulating nucleobase concentration	3251	HPRT1	ORPHA:510
HP:0010932	Abnormal circulating nucleobase concentration	3251	HPRT1	OMIM:300322
HP:0010932	Abnormal circulating nucleobase concentration	3251	HPRT1	OMIM:300323
HP:0010932	Abnormal circulating nucleobase concentration	3251	HPRT1	ORPHA:79233
HP:0010932	Abnormal circulating nucleobase concentration	3155	HMGCL	ORPHA:20
HP:0010932	Abnormal circulating nucleobase concentration	3155	HMGCL	OMIM:246450
HP:0010932	Abnormal circulating nucleobase concentration	25970	SH2B1	ORPHA:261222
HP:0010932	Abnormal circulating nucleobase concentration	5972	REN	OMIM:613092
HP:0010932	Abnormal circulating nucleobase concentration	229	ALDOB	OMIM:229600
HP:0010932	Abnormal circulating nucleobase concentration	229	ALDOB	ORPHA:469
HP:0010932	Abnormal circulating nucleobase concentration	29927	SEC61A1	OMIM:617056
HP:0010932	Abnormal circulating nucleobase concentration	29927	SEC61A1	OMIM:620674
HP:0010932	Abnormal circulating nucleobase concentration	5631	PRPS1	ORPHA:411543
HP:0010932	Abnormal circulating nucleobase concentration	5631	PRPS1	ORPHA:411536
HP:0010932	Abnormal circulating nucleobase concentration	5631	PRPS1	OMIM:300661
HP:0010932	Abnormal circulating nucleobase concentration	6928	HNF1B	ORPHA:93111
HP:0010932	Abnormal circulating nucleobase concentration	6928	HNF1B	OMIM:137920
HP:0010932	Abnormal circulating nucleobase concentration	2542	SLC37A4	OMIM:232220
HP:0010932	Abnormal circulating nucleobase concentration	2542	SLC37A4	ORPHA:79259
HP:0010932	Abnormal circulating nucleobase concentration	2542	SLC37A4	OMIM:232240
HP:0010932	Abnormal circulating nucleobase concentration	2203	FBP1	ORPHA:348
HP:0010932	Abnormal circulating nucleobase concentration	4609	MYC	ORPHA:543
HP:0010932	Abnormal circulating nucleobase concentration	5468	PPARG	OMIM:604367
HP:0010932	Abnormal circulating nucleobase concentration	5468	PPARG	ORPHA:79083
HP:0010932	Abnormal circulating nucleobase concentration	3998	LMAN1	ORPHA:35909
HP:0010932	Abnormal circulating nucleobase concentration	90411	MCFD2	ORPHA:35909
HP:0010932	Abnormal circulating nucleobase concentration	4982	TNFRSF11B	ORPHA:2801
HP:0010932	Abnormal circulating nucleobase concentration	4982	TNFRSF11B	OMIM:239000
HP:0010932	Abnormal circulating nucleobase concentration	8792	TNFRSF11A	ORPHA:2801
HP:0010932	Abnormal circulating nucleobase concentration	10686	CLDN16	OMIM:248250
HP:0010932	Abnormal circulating nucleobase concentration	150	ADRA2A	OMIM:620679
HP:0010932	Abnormal circulating nucleobase concentration	38	ACAT1	ORPHA:134
HP:0010932	Abnormal circulating nucleobase concentration	5213	PFKM	ORPHA:371
HP:0010932	Abnormal circulating nucleobase concentration	5213	PFKM	OMIM:232800
HP:0010932	Abnormal circulating nucleobase concentration	7369	UMOD	OMIM:162000
HP:0010932	Abnormal circulating nucleobase concentration	2538	G6PC1	OMIM:232200
HP:0010932	Abnormal circulating nucleobase concentration	5837	PYGM	OMIM:232600
HP:0010932	Abnormal circulating nucleobase concentration	7840	ALMS1	OMIM:203800
HP:0010932	Abnormal circulating nucleobase concentration	5257	PHKB	OMIM:261750
HP:0010932	Abnormal circulating nucleobase concentration	4000	LMNA	OMIM:151660
HP:0010932	Abnormal circulating nucleobase concentration	4582	MUC1	OMIM:174000
HP:0010932	Abnormal circulating nucleobase concentration	5256	PHKA2	OMIM:306000
HP:0010932	Abnormal circulating nucleobase concentration	54938	SARS2	OMIM:613845
HP:0010932	Abnormal circulating nucleobase concentration	4860	PNP	ORPHA:760
HP:0010932	Abnormal circulating nucleobase concentration	4860	PNP	OMIM:613179
HP:0010932	Abnormal circulating nucleobase concentration	116085	SLC22A12	OMIM:220150
HP:0010932	Abnormal circulating nucleobase concentration	116085	SLC22A12	ORPHA:94088
HP:0010932	Abnormal circulating nucleobase concentration	6514	SLC2A2	OMIM:227810
HP:0010932	Abnormal circulating nucleobase concentration	56606	SLC2A9	OMIM:612076
HP:0010932	Abnormal circulating nucleobase concentration	56606	SLC2A9	ORPHA:94088
HP:0010932	Abnormal circulating nucleobase concentration	10243	GPHN	OMIM:615501
HP:0010932	Abnormal circulating nucleobase concentration	7498	XDH	OMIM:278300
HP:0010932	Abnormal circulating nucleobase concentration	4337	MOCS1	OMIM:252150
HP:0010932	Abnormal circulating nucleobase concentration	3172	HNF4A	OMIM:616026
HP:0010932	Abnormal circulating nucleobase concentration	4338	MOCS2	OMIM:252160
HP:0010932	Abnormal circulating nucleobase concentration	1497	CTNS	ORPHA:411634
HP:0010932	Abnormal circulating nucleobase concentration	540	ATP7B	OMIM:277900
HP:0010932	Abnormal circulating nucleobase concentration	55034	MOCOS	OMIM:603592
HP:0010932	Abnormal circulating nucleobase concentration	1962	EHHADH	ORPHA:3337
HP:0010932	Abnormal circulating nucleobase concentration	2628	GATM	ORPHA:3337
HP:0010932	Abnormal circulating nucleobase concentration	137682	NDUFAF6	ORPHA:3337
HP:0010932	Abnormal circulating nucleobase concentration	6569	SLC34A1	ORPHA:3337
HP:0010932	Abnormal circulating nucleobase concentration	5009	OTC	OMIM:311250
HP:0010932	Abnormal circulating nucleobase concentration	1807	DPYS	OMIM:222748
HP:0010932	Abnormal circulating nucleobase concentration	1890	TYMP	OMIM:603041
HP:0010932	Abnormal circulating nucleobase concentration	5428	POLG	OMIM:603041
HP:0010933	Hyperxanthinemia	7498	XDH	OMIM:278300
HP:0010933	Hyperxanthinemia	55034	MOCOS	OMIM:603592
HP:0010934	Xanthinuria	7498	XDH	OMIM:278300
HP:0010934	Xanthinuria	4337	MOCS1	OMIM:252150
HP:0010934	Xanthinuria	4338	MOCS2	OMIM:252160
HP:0010934	Xanthinuria	55034	MOCOS	OMIM:603592
HP:0010935	Abnormality of the upper urinary tract	9231	DLG5	OMIM:620703
HP:0010935	Abnormality of the upper urinary tract	7473	WNT3	ORPHA:3301
HP:0010935	Abnormality of the upper urinary tract	340419	RSPO2	ORPHA:3301
HP:0010935	Abnormality of the upper urinary tract	9496	TBX4	ORPHA:3301
HP:0010935	Abnormality of the upper urinary tract	11041	B4GAT1	OMIM:615287
HP:0010935	Abnormality of the upper urinary tract	23522	KAT6B	ORPHA:85201
HP:0010935	Abnormality of the upper urinary tract	23522	KAT6B	OMIM:606170
HP:0010935	Abnormality of the upper urinary tract	57466	SCAF4	OMIM:620511
HP:0010935	Abnormality of the upper urinary tract	151188	ARL6IP6	ORPHA:1556
HP:0010935	Abnormality of the upper urinary tract	139285	AMER1	OMIM:300373
HP:0010935	Abnormality of the upper urinary tract	3978	LIG1	OMIM:619774
HP:0010935	Abnormality of the upper urinary tract	64359	NXN	ORPHA:1507
HP:0010935	Abnormality of the upper urinary tract	3239	HOXD13	ORPHA:887
HP:0010935	Abnormality of the upper urinary tract	55670	PEX26	ORPHA:912
HP:0010935	Abnormality of the upper urinary tract	8799	PEX11B	ORPHA:912
HP:0010935	Abnormality of the upper urinary tract	9409	PEX16	ORPHA:912
HP:0010935	Abnormality of the upper urinary tract	5830	PEX5	ORPHA:912
HP:0010935	Abnormality of the upper urinary tract	5193	PEX12	ORPHA:912
HP:0010935	Abnormality of the upper urinary tract	5195	PEX14	ORPHA:912
HP:0010935	Abnormality of the upper urinary tract	2313	FLI1	ORPHA:2308
HP:0010935	Abnormality of the upper urinary tract	9401	RECQL4	ORPHA:1225
HP:0010935	Abnormality of the upper urinary tract	134701	RIPPLY2	ORPHA:2311
HP:0010935	Abnormality of the upper urinary tract	10683	DLL3	ORPHA:2311
HP:0010935	Abnormality of the upper urinary tract	3955	LFNG	ORPHA:2311
HP:0010935	Abnormality of the upper urinary tract	84667	HES7	ORPHA:2311
HP:0010935	Abnormality of the upper urinary tract	145873	MESP2	ORPHA:2311
HP:0010935	Abnormality of the upper urinary tract	6794	STK11	OMIM:175200
HP:0010935	Abnormality of the upper urinary tract	6794	STK11	ORPHA:2869
HP:0010935	Abnormality of the upper urinary tract	1131	CHRM3	ORPHA:2970
HP:0010935	Abnormality of the upper urinary tract	3481	IGF2	OMIM:180860
HP:0010935	Abnormality of the upper urinary tract	8626	TP63	ORPHA:93930
HP:0010935	Abnormality of the upper urinary tract	3670	ISL1	ORPHA:93930
HP:0010935	Abnormality of the upper urinary tract	81839	VANGL1	ORPHA:3027
HP:0010935	Abnormality of the upper urinary tract	80199	FUZ	ORPHA:3027
HP:0010935	Abnormality of the upper urinary tract	3339	HSPG2	ORPHA:800
HP:0010935	Abnormality of the upper urinary tract	5566	PRKACA	ORPHA:289
HP:0010935	Abnormality of the upper urinary tract	5567	PRKACB	ORPHA:289
HP:0010935	Abnormality of the upper urinary tract	2735	GLI1	ORPHA:289
HP:0010935	Abnormality of the upper urinary tract	2121	EVC	ORPHA:289
HP:0010935	Abnormality of the upper urinary tract	51626	DYNC2LI1	ORPHA:289
HP:0010935	Abnormality of the upper urinary tract	132884	EVC2	ORPHA:289
HP:0010935	Abnormality of the upper urinary tract	7372	UMPS	ORPHA:30
HP:0010935	Abnormality of the upper urinary tract	54903	MKS1	OMIM:249000
HP:0010935	Abnormality of the upper urinary tract	3845	KRAS	ORPHA:3339
HP:0010935	Abnormality of the upper urinary tract	2314	FLII	ORPHA:819
HP:0010935	Abnormality of the upper urinary tract	23096	IQSEC2	ORPHA:819
HP:0010935	Abnormality of the upper urinary tract	10743	RAI1	ORPHA:819
HP:0010935	Abnormality of the upper urinary tract	10522	DEAF1	ORPHA:819
HP:0010935	Abnormality of the upper urinary tract	5818	NECTIN1	ORPHA:3253
HP:0010935	Abnormality of the upper urinary tract	26040	SETBP1	ORPHA:798
HP:0010935	Abnormality of the upper urinary tract	3655	ITGA6	ORPHA:79403
HP:0010935	Abnormality of the upper urinary tract	3691	ITGB4	ORPHA:79403
HP:0010935	Abnormality of the upper urinary tract	3691	ITGB4	ORPHA:158684
HP:0010935	Abnormality of the upper urinary tract	3909	LAMA3	ORPHA:79404
HP:0010935	Abnormality of the upper urinary tract	3918	LAMC2	ORPHA:79404
HP:0010935	Abnormality of the upper urinary tract	3914	LAMB3	ORPHA:79404
HP:0010935	Abnormality of the upper urinary tract	3975	LHX1	ORPHA:261265
HP:0010935	Abnormality of the upper urinary tract	5339	PLEC	ORPHA:158684
HP:0010935	Abnormality of the upper urinary tract	5190	PEX6	OMIM:614863
HP:0010935	Abnormality of the upper urinary tract	10982	MAPRE2	OMIM:616734
HP:0010935	Abnormality of the upper urinary tract	6792	CDKL5	ORPHA:1934
HP:0010935	Abnormality of the upper urinary tract	3736	KCNA1	ORPHA:1934
HP:0010935	Abnormality of the upper urinary tract	9091	PIGQ	ORPHA:1934
HP:0010935	Abnormality of the upper urinary tract	140679	SLC32A1	ORPHA:1934
HP:0010935	Abnormality of the upper urinary tract	2775	GNAO1	ORPHA:1934
HP:0010935	Abnormality of the upper urinary tract	81603	TRIM8	ORPHA:1934
HP:0010935	Abnormality of the upper urinary tract	2902	GRIN1	ORPHA:1934
HP:0010935	Abnormality of the upper urinary tract	79751	SLC25A22	ORPHA:1934
HP:0010935	Abnormality of the upper urinary tract	150094	SIK1	ORPHA:1934
HP:0010935	Abnormality of the upper urinary tract	8573	CASK	ORPHA:1934
HP:0010935	Abnormality of the upper urinary tract	23312	DMXL2	ORPHA:1934
HP:0010935	Abnormality of the upper urinary tract	2917	GRM7	ORPHA:1934
HP:0010935	Abnormality of the upper urinary tract	170302	ARX	ORPHA:1934
HP:0010935	Abnormality of the upper urinary tract	11284	PNKP	ORPHA:1934
HP:0010935	Abnormality of the upper urinary tract	6326	SCN2A	ORPHA:1934
HP:0010935	Abnormality of the upper urinary tract	51227	PIGP	ORPHA:1934
HP:0010935	Abnormality of the upper urinary tract	6324	SCN1B	ORPHA:1934
HP:0010935	Abnormality of the upper urinary tract	4761	NEUROD2	ORPHA:1934
HP:0010935	Abnormality of the upper urinary tract	1009	CDH11	ORPHA:1299
HP:0010935	Abnormality of the upper urinary tract	5337	PLD1	OMIM:212093
HP:0010935	Abnormality of the upper urinary tract	9653	HS2ST1	OMIM:619194
HP:0010935	Abnormality of the upper urinary tract	2294	FOXF1	OMIM:265380
HP:0010935	Abnormality of the upper urinary tract	4638	MYLK	OMIM:249210
HP:0010935	Abnormality of the upper urinary tract	4638	MYLK	ORPHA:2241
HP:0010935	Abnormality of the upper urinary tract	54880	BCOR	OMIM:309800
HP:0010935	Abnormality of the upper urinary tract	54880	BCOR	ORPHA:568
HP:0010935	Abnormality of the upper urinary tract	8260	NAA10	OMIM:309800
HP:0010935	Abnormality of the upper urinary tract	8260	NAA10	ORPHA:568
HP:0010935	Abnormality of the upper urinary tract	51604	PIGT	OMIM:615398
HP:0010935	Abnormality of the upper urinary tract	72	ACTG2	OMIM:619431
HP:0010935	Abnormality of the upper urinary tract	72	ACTG2	ORPHA:2604
HP:0010935	Abnormality of the upper urinary tract	72	ACTG2	ORPHA:2241
HP:0010935	Abnormality of the upper urinary tract	54101	RIPK4	ORPHA:1401
HP:0010935	Abnormality of the upper urinary tract	92002	CCNQ	OMIM:300707
HP:0010935	Abnormality of the upper urinary tract	1161	ERCC8	ORPHA:90324
HP:0010935	Abnormality of the upper urinary tract	2074	ERCC6	ORPHA:90324
HP:0010935	Abnormality of the upper urinary tract	1909	EDNRA	OMIM:616367
HP:0010935	Abnormality of the upper urinary tract	8195	MKKS	OMIM:236700
HP:0010935	Abnormality of the upper urinary tract	554	AVPR2	ORPHA:223
HP:0010935	Abnormality of the upper urinary tract	359	AQP2	ORPHA:223
HP:0010935	Abnormality of the upper urinary tract	23556	PIGN	ORPHA:280633
HP:0010935	Abnormality of the upper urinary tract	51715	RAB23	OMIM:201000
HP:0010935	Abnormality of the upper urinary tract	25802	LMOD1	OMIM:619362
HP:0010935	Abnormality of the upper urinary tract	25802	LMOD1	ORPHA:2241
HP:0010935	Abnormality of the upper urinary tract	4629	MYH11	ORPHA:2241
HP:0010935	Abnormality of the upper urinary tract	56975	FAM20C	OMIM:259775
HP:0010935	Abnormality of the upper urinary tract	9968	MED12	OMIM:301068
HP:0010935	Abnormality of the upper urinary tract	2316	FLNA	OMIM:305620
HP:0010935	Abnormality of the upper urinary tract	2239	GPC4	ORPHA:373
HP:0010935	Abnormality of the upper urinary tract	2719	GPC3	ORPHA:373
HP:0010935	Abnormality of the upper urinary tract	57492	ARID1B	OMIM:135900
HP:0010935	Abnormality of the upper urinary tract	25915	NDUFAF3	OMIM:618240
HP:0010935	Abnormality of the upper urinary tract	64321	SOX17	OMIM:613674
HP:0010935	Abnormality of the upper urinary tract	166379	BBS12	OMIM:615989
HP:0010935	Abnormality of the upper urinary tract	1642	DDB1	OMIM:619426
HP:0010935	Abnormality of the upper urinary tract	6655	SOS2	OMIM:616559
HP:0010935	Abnormality of the upper urinary tract	9096	TBX18	OMIM:143400
HP:0010935	Abnormality of the upper urinary tract	60495	HPSE2	OMIM:236730
HP:0010935	Abnormality of the upper urinary tract	6874	TAF4	OMIM:620450
HP:0010935	Abnormality of the upper urinary tract	2737	GLI3	OMIM:146510
HP:0010935	Abnormality of the upper urinary tract	9361	LONP1	ORPHA:1458
HP:0010935	Abnormality of the upper urinary tract	1376	CPT2	OMIM:608836
HP:0010935	Abnormality of the upper urinary tract	64840	PORCN	OMIM:305600
HP:0010935	Abnormality of the upper urinary tract	8312	AXIN1	OMIM:607864
HP:0010935	Abnormality of the upper urinary tract	388662	SLC6A17	ORPHA:457212
HP:0010935	Abnormality of the upper urinary tract	54892	NCAPG2	OMIM:618460
HP:0010935	Abnormality of the upper urinary tract	145173	B3GLCT	OMIM:261540
HP:0010935	Abnormality of the upper urinary tract	145173	B3GLCT	ORPHA:709
HP:0010935	Abnormality of the upper urinary tract	10269	ZMPSTE24	ORPHA:1662
HP:0010935	Abnormality of the upper urinary tract	10269	ZMPSTE24	OMIM:275210
HP:0010935	Abnormality of the upper urinary tract	2627	GATA6	ORPHA:2255
HP:0010935	Abnormality of the upper urinary tract	2627	GATA6	OMIM:600001
HP:0010935	Abnormality of the upper urinary tract	5718	PSMD12	OMIM:617516
HP:0010935	Abnormality of the upper urinary tract	4838	NODAL	OMIM:270100
HP:0010935	Abnormality of the upper urinary tract	10653	SPINT2	OMIM:270420
HP:0010935	Abnormality of the upper urinary tract	84314	TMEM107	ORPHA:564
HP:0010935	Abnormality of the upper urinary tract	26123	TCTN3	ORPHA:564
HP:0010935	Abnormality of the upper urinary tract	79867	TCTN2	ORPHA:564
HP:0010935	Abnormality of the upper urinary tract	80776	B9D2	ORPHA:564
HP:0010935	Abnormality of the upper urinary tract	79600	TCTN1	ORPHA:564
HP:0010935	Abnormality of the upper urinary tract	57096	RPGRIP1	ORPHA:564
HP:0010935	Abnormality of the upper urinary tract	79848	CSPP1	ORPHA:564
HP:0010935	Abnormality of the upper urinary tract	80184	CEP290	ORPHA:564
HP:0010935	Abnormality of the upper urinary tract	51259	TMEM216	ORPHA:564
HP:0010935	Abnormality of the upper urinary tract	57545	CC2D2A	ORPHA:564
HP:0010935	Abnormality of the upper urinary tract	79583	TMEM231	ORPHA:564
HP:0010935	Abnormality of the upper urinary tract	91147	TMEM67	ORPHA:564
HP:0010935	Abnormality of the upper urinary tract	79770	TXNDC15	ORPHA:564
HP:0010935	Abnormality of the upper urinary tract	27077	B9D1	ORPHA:564
HP:0010935	Abnormality of the upper urinary tract	23322	RPGRIP1L	ORPHA:564
HP:0010935	Abnormality of the upper urinary tract	65062	TMEM237	ORPHA:564
HP:0010935	Abnormality of the upper urinary tract	9742	IFT140	OMIM:266920
HP:0010935	Abnormality of the upper urinary tract	6654	SOS1	OMIM:610733
HP:0010935	Abnormality of the upper urinary tract	8085	KMT2D	OMIM:147920
HP:0010935	Abnormality of the upper urinary tract	7403	KDM6A	OMIM:147920
HP:0010935	Abnormality of the upper urinary tract	7528	YY1	ORPHA:506358
HP:0010935	Abnormality of the upper urinary tract	7528	YY1	OMIM:617557
HP:0010935	Abnormality of the upper urinary tract	2972	BRF1	ORPHA:444072
HP:0010935	Abnormality of the upper urinary tract	2782	GNB1	OMIM:616973
HP:0010935	Abnormality of the upper urinary tract	4920	ROR2	OMIM:268310
HP:0010935	Abnormality of the upper urinary tract	2303	FOXC2	ORPHA:33001
HP:0010935	Abnormality of the upper urinary tract	6231	RPS26	OMIM:613309
HP:0010935	Abnormality of the upper urinary tract	7474	WNT5A	OMIM:180700
HP:0010935	Abnormality of the upper urinary tract	1855	DVL1	OMIM:180700
HP:0010935	Abnormality of the upper urinary tract	5076	PAX2	ORPHA:97362
HP:0010935	Abnormality of the upper urinary tract	5076	PAX2	ORPHA:1475
HP:0010935	Abnormality of the upper urinary tract	5076	PAX2	OMIM:120330
HP:0010935	Abnormality of the upper urinary tract	5087	PBX1	ORPHA:97362
HP:0010935	Abnormality of the upper urinary tract	5087	PBX1	OMIM:617641
HP:0010935	Abnormality of the upper urinary tract	10617	STAMBP	OMIM:614261
HP:0010935	Abnormality of the upper urinary tract	8294	H4C9	OMIM:619951
HP:0010935	Abnormality of the upper urinary tract	2138	EYA1	OMIM:113650
HP:0010935	Abnormality of the upper urinary tract	2138	EYA1	ORPHA:107
HP:0010935	Abnormality of the upper urinary tract	6495	SIX1	OMIM:113650
HP:0010935	Abnormality of the upper urinary tract	6495	SIX1	OMIM:605192
HP:0010935	Abnormality of the upper urinary tract	6495	SIX1	ORPHA:107
HP:0010935	Abnormality of the upper urinary tract	9860	LRIG2	OMIM:615112
HP:0010935	Abnormality of the upper urinary tract	9860	LRIG2	ORPHA:2704
HP:0010935	Abnormality of the upper urinary tract	26128	KIFBP	OMIM:609460
HP:0010935	Abnormality of the upper urinary tract	1788	DNMT3A	OMIM:615879
HP:0010935	Abnormality of the upper urinary tract	5361	PLXNA1	OMIM:619955
HP:0010935	Abnormality of the upper urinary tract	253738	EBF3	ORPHA:96148
HP:0010935	Abnormality of the upper urinary tract	253738	EBF3	OMIM:617330
HP:0010935	Abnormality of the upper urinary tract	3209	HOXA13	OMIM:140000
HP:0010935	Abnormality of the upper urinary tract	3209	HOXA13	ORPHA:2438
HP:0010935	Abnormality of the upper urinary tract	90459	ERI1	OMIM:620663
HP:0010935	Abnormality of the upper urinary tract	90459	ERI1	OMIM:620662
HP:0010935	Abnormality of the upper urinary tract	4774	NFIA	OMIM:613735
HP:0010935	Abnormality of the upper urinary tract	10992	SF3B2	OMIM:164210
HP:0010935	Abnormality of the upper urinary tract	57167	SALL4	OMIM:607323
HP:0010935	Abnormality of the upper urinary tract	57167	SALL4	ORPHA:959
HP:0010935	Abnormality of the upper urinary tract	55593	OTUD5	OMIM:301056
HP:0010935	Abnormality of the upper urinary tract	3190	HNRNPK	ORPHA:453504
HP:0010935	Abnormality of the upper urinary tract	3190	HNRNPK	OMIM:616580
HP:0010935	Abnormality of the upper urinary tract	3190	HNRNPK	ORPHA:352665
HP:0010935	Abnormality of the upper urinary tract	27125	AFF4	ORPHA:444077
HP:0010935	Abnormality of the upper urinary tract	27125	AFF4	OMIM:616368
HP:0010935	Abnormality of the upper urinary tract	80114	BICC1	OMIM:601331
HP:0010935	Abnormality of the upper urinary tract	4281	MID1	OMIM:300000
HP:0010935	Abnormality of the upper urinary tract	4281	MID1	ORPHA:2745
HP:0010935	Abnormality of the upper urinary tract	23498	HAAO	OMIM:617660
HP:0010935	Abnormality of the upper urinary tract	51506	UFC1	OMIM:618076
HP:0010935	Abnormality of the upper urinary tract	3313	HSPA9	OMIM:616854
HP:0010935	Abnormality of the upper urinary tract	9915	ARNT2	OMIM:615926
HP:0010935	Abnormality of the upper urinary tract	6092	ROBO2	OMIM:610878
HP:0010935	Abnormality of the upper urinary tract	55636	CHD7	ORPHA:138
HP:0010935	Abnormality of the upper urinary tract	9723	SEMA3E	ORPHA:138
HP:0010935	Abnormality of the upper urinary tract	23005	MAPKBP1	OMIM:617271
HP:0010935	Abnormality of the upper urinary tract	51473	DCDC2	OMIM:617394
HP:0010935	Abnormality of the upper urinary tract	284058	KANSL1	ORPHA:363958
HP:0010935	Abnormality of the upper urinary tract	284058	KANSL1	ORPHA:363965
HP:0010935	Abnormality of the upper urinary tract	284058	KANSL1	OMIM:610443
HP:0010935	Abnormality of the upper urinary tract	1136	CHRNA3	OMIM:191800
HP:0010935	Abnormality of the upper urinary tract	10616	RBCK1	OMIM:615895
HP:0010935	Abnormality of the upper urinary tract	1108	CHD4	OMIM:617159
HP:0010935	Abnormality of the upper urinary tract	9675	TTI1	OMIM:620445
HP:0010935	Abnormality of the upper urinary tract	7080	NKX2-1	ORPHA:209905
HP:0010935	Abnormality of the upper urinary tract	1312	COMT	ORPHA:567
HP:0010935	Abnormality of the upper urinary tract	221037	JMJD1C	ORPHA:567
HP:0010935	Abnormality of the upper urinary tract	2812	GP1BB	ORPHA:567
HP:0010935	Abnormality of the upper urinary tract	6239	RREB1	ORPHA:567
HP:0010935	Abnormality of the upper urinary tract	6899	TBX1	ORPHA:567
HP:0010935	Abnormality of the upper urinary tract	7290	HIRA	ORPHA:567
HP:0010935	Abnormality of the upper urinary tract	9632	SEC24C	ORPHA:567
HP:0010935	Abnormality of the upper urinary tract	7353	UFD1	ORPHA:567
HP:0010935	Abnormality of the upper urinary tract	421	ARVCF	ORPHA:567
HP:0010935	Abnormality of the upper urinary tract	25778	DSTYK	OMIM:610805
HP:0010935	Abnormality of the upper urinary tract	10524	KAT5	OMIM:619103
HP:0010935	Abnormality of the upper urinary tract	1656	DDX6	OMIM:618653
HP:0010935	Abnormality of the upper urinary tract	2186	BPTF	ORPHA:529962
HP:0010935	Abnormality of the upper urinary tract	5277	PIGA	OMIM:300868
HP:0010935	Abnormality of the upper urinary tract	6885	MAP3K7	OMIM:157800
HP:0010935	Abnormality of the upper urinary tract	57178	ZMIZ1	OMIM:618659
HP:0010935	Abnormality of the upper urinary tract	8550	MAPKAPK5	OMIM:619869
HP:0010935	Abnormality of the upper urinary tract	80781	COL18A1	ORPHA:1571
HP:0010935	Abnormality of the upper urinary tract	5062	PAK2	ORPHA:1571
HP:0010935	Abnormality of the upper urinary tract	54496	PRMT7	ORPHA:464288
HP:0010935	Abnormality of the upper urinary tract	3192	HNRNPU	ORPHA:238769
HP:0010935	Abnormality of the upper urinary tract	23476	BRD4	ORPHA:199
HP:0010935	Abnormality of the upper urinary tract	8243	SMC1A	ORPHA:199
HP:0010935	Abnormality of the upper urinary tract	6878	TAF6	ORPHA:199
HP:0010935	Abnormality of the upper urinary tract	25836	NIPBL	ORPHA:199
HP:0010935	Abnormality of the upper urinary tract	25836	NIPBL	OMIM:122470
HP:0010935	Abnormality of the upper urinary tract	55869	HDAC8	ORPHA:199
HP:0010935	Abnormality of the upper urinary tract	5885	RAD21	ORPHA:199
HP:0010935	Abnormality of the upper urinary tract	5885	RAD21	ORPHA:502
HP:0010935	Abnormality of the upper urinary tract	5885	RAD21	OMIM:611376
HP:0010935	Abnormality of the upper urinary tract	92482	BBIP1	ORPHA:110
HP:0010935	Abnormality of the upper urinary tract	11020	IFT27	ORPHA:110
HP:0010935	Abnormality of the upper urinary tract	49855	SCAPER	ORPHA:110
HP:0010935	Abnormality of the upper urinary tract	4867	NPHP1	ORPHA:110
HP:0010935	Abnormality of the upper urinary tract	51057	WDPCP	ORPHA:110
HP:0010935	Abnormality of the upper urinary tract	132320	SCLT1	ORPHA:110
HP:0010935	Abnormality of the upper urinary tract	27241	BBS9	ORPHA:110
HP:0010935	Abnormality of the upper urinary tract	84984	CEP19	ORPHA:110
HP:0010935	Abnormality of the upper urinary tract	79738	BBS10	ORPHA:110
HP:0010935	Abnormality of the upper urinary tract	26160	IFT172	ORPHA:110
HP:0010935	Abnormality of the upper urinary tract	54585	LZTFL1	ORPHA:110
HP:0010935	Abnormality of the upper urinary tract	55212	BBS7	ORPHA:110
HP:0010935	Abnormality of the upper urinary tract	10806	SDCCAG8	ORPHA:110
HP:0010935	Abnormality of the upper urinary tract	157657	CFAP418	ORPHA:110
HP:0010935	Abnormality of the upper urinary tract	129880	BBS5	ORPHA:110
HP:0010935	Abnormality of the upper urinary tract	80173	IFT74	ORPHA:110
HP:0010935	Abnormality of the upper urinary tract	5530	PPP3CA	OMIM:618265
HP:0010935	Abnormality of the upper urinary tract	6135	RPL11	OMIM:612562
HP:0010935	Abnormality of the upper urinary tract	6804	STX1A	ORPHA:904
HP:0010935	Abnormality of the upper urinary tract	7461	CLIP2	ORPHA:904
HP:0010935	Abnormality of the upper urinary tract	84277	DNAJC30	ORPHA:904
HP:0010935	Abnormality of the upper urinary tract	8468	FKBP6	ORPHA:904
HP:0010935	Abnormality of the upper urinary tract	5982	RFC2	ORPHA:904
HP:0010935	Abnormality of the upper urinary tract	2969	GTF2I	ORPHA:904
HP:0010935	Abnormality of the upper urinary tract	3984	LIMK1	ORPHA:904
HP:0010935	Abnormality of the upper urinary tract	9569	GTF2IRD1	ORPHA:904
HP:0010935	Abnormality of the upper urinary tract	155382	VPS37D	ORPHA:904
HP:0010935	Abnormality of the upper urinary tract	155368	METTL27	ORPHA:904
HP:0010935	Abnormality of the upper urinary tract	114049	BUD23	ORPHA:904
HP:0010935	Abnormality of the upper urinary tract	7458	EIF4H	ORPHA:904
HP:0010935	Abnormality of the upper urinary tract	84163	GTF2IRD2	ORPHA:904
HP:0010935	Abnormality of the upper urinary tract	26608	TBL2	ORPHA:904
HP:0010935	Abnormality of the upper urinary tract	653361	NCF1	ORPHA:904
HP:0010935	Abnormality of the upper urinary tract	135886	TMEM270	ORPHA:904
HP:0010935	Abnormality of the upper urinary tract	9031	BAZ1B	ORPHA:904
HP:0010935	Abnormality of the upper urinary tract	84720	PIGO	OMIM:614749
HP:0010935	Abnormality of the upper urinary tract	54796	BNC2	ORPHA:93110
HP:0010935	Abnormality of the upper urinary tract	54796	BNC2	OMIM:618612
HP:0010935	Abnormality of the upper urinary tract	8405	SPOP	OMIM:618828
HP:0010935	Abnormality of the upper urinary tract	147912	SIX5	ORPHA:107
HP:0010935	Abnormality of the upper urinary tract	2131	EXT1	ORPHA:502
HP:0010935	Abnormality of the upper urinary tract	7227	TRPS1	ORPHA:502
HP:0010935	Abnormality of the upper urinary tract	8204	NRIP1	OMIM:618270
HP:0010935	Abnormality of the upper urinary tract	8318	CDC45	OMIM:617063
HP:0010935	Abnormality of the upper urinary tract	253959	RALGAPA1	OMIM:618797
HP:0010935	Abnormality of the upper urinary tract	1857	DVL3	OMIM:616894
HP:0010935	Abnormality of the upper urinary tract	7148	TNXB	OMIM:615963
HP:0010935	Abnormality of the upper urinary tract	7148	TNXB	OMIM:606408
HP:0010935	Abnormality of the upper urinary tract	3110	MNX1	ORPHA:1552
HP:0010935	Abnormality of the upper urinary tract	3110	MNX1	OMIM:176450
HP:0010935	Abnormality of the upper urinary tract	182	JAG1	OMIM:118450
HP:0010935	Abnormality of the upper urinary tract	2255	FGF10	ORPHA:2363
HP:0010935	Abnormality of the upper urinary tract	5080	PAX6	OMIM:120200
HP:0010935	Abnormality of the upper urinary tract	11128	POLR3A	ORPHA:3455
HP:0010935	Abnormality of the upper urinary tract	7369	UMOD	OMIM:162000
HP:0010935	Abnormality of the upper urinary tract	64220	STRA6	ORPHA:2470
HP:0010935	Abnormality of the upper urinary tract	7477	WNT7B	ORPHA:2470
HP:0010935	Abnormality of the upper urinary tract	5915	RARB	ORPHA:2470
HP:0010935	Abnormality of the upper urinary tract	1028	CDKN1C	OMIM:130650
HP:0010935	Abnormality of the upper urinary tract	3784	KCNQ1	OMIM:130650
HP:0010935	Abnormality of the upper urinary tract	10984	KCNQ1OT1	OMIM:130650
HP:0010935	Abnormality of the upper urinary tract	2625	GATA3	ORPHA:2237
HP:0010935	Abnormality of the upper urinary tract	6389	SDHA	ORPHA:3208
HP:0010935	Abnormality of the upper urinary tract	644096	SDHAF1	ORPHA:3208
HP:0010935	Abnormality of the upper urinary tract	4052	LTBP1	ORPHA:90349
HP:0010935	Abnormality of the upper urinary tract	30008	EFEMP2	ORPHA:90349
HP:0010935	Abnormality of the upper urinary tract	10516	FBLN5	ORPHA:90349
HP:0010935	Abnormality of the upper urinary tract	147372	CCBE1	OMIM:235510
HP:0010935	Abnormality of the upper urinary tract	9276	COPB2	ORPHA:2512
HP:0010935	Abnormality of the upper urinary tract	11113	CIT	ORPHA:2512
HP:0010935	Abnormality of the upper urinary tract	22995	CEP152	ORPHA:2512
HP:0010935	Abnormality of the upper urinary tract	284403	WDR62	ORPHA:2512
HP:0010935	Abnormality of the upper urinary tract	55262	TRAPPC14	ORPHA:2512
HP:0010935	Abnormality of the upper urinary tract	163786	SASS6	ORPHA:2512
HP:0010935	Abnormality of the upper urinary tract	29920	PYCR2	ORPHA:2512
HP:0010935	Abnormality of the upper urinary tract	84879	MFSD2A	ORPHA:2512
HP:0010935	Abnormality of the upper urinary tract	4176	MCM7	ORPHA:2512
HP:0010935	Abnormality of the upper urinary tract	80254	CEP63	ORPHA:2512
HP:0010935	Abnormality of the upper urinary tract	29081	METTL5	ORPHA:2512
HP:0010935	Abnormality of the upper urinary tract	79023	NUP37	ORPHA:2512
HP:0010935	Abnormality of the upper urinary tract	23310	NCAPD3	ORPHA:2512
HP:0010935	Abnormality of the upper urinary tract	6301	SARS1	ORPHA:2512
HP:0010935	Abnormality of the upper urinary tract	55755	CDK5RAP2	ORPHA:2512
HP:0010935	Abnormality of the upper urinary tract	79648	MCPH1	ORPHA:2512
HP:0010935	Abnormality of the upper urinary tract	6491	STIL	ORPHA:2512
HP:0010935	Abnormality of the upper urinary tract	23141	ANKLE2	ORPHA:2512
HP:0010935	Abnormality of the upper urinary tract	259266	ASPM	ORPHA:2512
HP:0010935	Abnormality of the upper urinary tract	7109	TRAPPC10	ORPHA:2512
HP:0010935	Abnormality of the upper urinary tract	7453	WARS1	ORPHA:2512
HP:0010935	Abnormality of the upper urinary tract	1911	PHC1	ORPHA:2512
HP:0010935	Abnormality of the upper urinary tract	1062	CENPE	ORPHA:2512
HP:0010935	Abnormality of the upper urinary tract	6884	TAF13	ORPHA:2512
HP:0010935	Abnormality of the upper urinary tract	9662	CEP135	ORPHA:2512
HP:0010935	Abnormality of the upper urinary tract	57082	KNL1	ORPHA:2512
HP:0010935	Abnormality of the upper urinary tract	1021	CDK6	ORPHA:2512
HP:0010935	Abnormality of the upper urinary tract	9203	ZMYM3	OMIM:301111
HP:0010935	Abnormality of the upper urinary tract	171023	ASXL1	OMIM:605039
HP:0010935	Abnormality of the upper urinary tract	8295	TRRAP	OMIM:618454
HP:0010935	Abnormality of the upper urinary tract	7319	UBE2A	ORPHA:163956
HP:0010935	Abnormality of the upper urinary tract	5908	RAP1B	OMIM:620654
HP:0010935	Abnormality of the upper urinary tract	80000	GREB1L	OMIM:617805
HP:0010935	Abnormality of the upper urinary tract	8462	KLF11	ORPHA:552
HP:0010935	Abnormality of the upper urinary tract	26060	APPL1	ORPHA:552
HP:0010935	Abnormality of the upper urinary tract	640	BLK	ORPHA:552
HP:0010935	Abnormality of the upper urinary tract	1056	CEL	ORPHA:552
HP:0010935	Abnormality of the upper urinary tract	4760	NEUROD1	ORPHA:552
HP:0010935	Abnormality of the upper urinary tract	5078	PAX4	ORPHA:552
HP:0010935	Abnormality of the upper urinary tract	3172	HNF4A	ORPHA:552
HP:0010935	Abnormality of the upper urinary tract	6927	HNF1A	ORPHA:552
HP:0010935	Abnormality of the upper urinary tract	25970	SH2B1	ORPHA:261222
HP:0010935	Abnormality of the upper urinary tract	23592	LEMD3	ORPHA:166119
HP:0010935	Abnormality of the upper urinary tract	8518	ELP1	ORPHA:1764
HP:0010935	Abnormality of the upper urinary tract	4010	LMX1B	ORPHA:2614
HP:0010935	Abnormality of the upper urinary tract	4010	LMX1B	ORPHA:495818
HP:0010935	Abnormality of the upper urinary tract	85358	SHANK3	OMIM:606232
HP:0010935	Abnormality of the upper urinary tract	2261	FGFR3	ORPHA:93274
HP:0010935	Abnormality of the upper urinary tract	2261	FGFR3	ORPHA:1860
HP:0010935	Abnormality of the upper urinary tract	9839	ZEB2	OMIM:235730
HP:0010935	Abnormality of the upper urinary tract	4758	NEU1	ORPHA:93399
HP:0010935	Abnormality of the upper urinary tract	4758	NEU1	ORPHA:93400
HP:0010935	Abnormality of the upper urinary tract	64324	NSD1	ORPHA:821
HP:0010935	Abnormality of the upper urinary tract	64324	NSD1	OMIM:117550
HP:0010935	Abnormality of the upper urinary tract	10297	APC2	ORPHA:821
HP:0010935	Abnormality of the upper urinary tract	6888	TALDO1	ORPHA:101028
HP:0010935	Abnormality of the upper urinary tract	54968	TMEM70	ORPHA:1194
HP:0010935	Abnormality of the upper urinary tract	1723	DHODH	OMIM:263750
HP:0010935	Abnormality of the upper urinary tract	123016	TTC8	OMIM:613464
HP:0010935	Abnormality of the upper urinary tract	6812	STXBP1	ORPHA:495818
HP:0010935	Abnormality of the upper urinary tract	2033	EP300	ORPHA:353284
HP:0010935	Abnormality of the upper urinary tract	56623	INPP5E	ORPHA:75858
HP:0010935	Abnormality of the upper urinary tract	2132	EXT2	ORPHA:466926
HP:0010935	Abnormality of the upper urinary tract	346171	ZFP57	ORPHA:99886
HP:0010935	Abnormality of the upper urinary tract	57061	HYMAI	ORPHA:99886
HP:0010935	Abnormality of the upper urinary tract	5325	PLAGL1	ORPHA:99886
HP:0010935	Abnormality of the upper urinary tract	6928	HNF1B	OMIM:137920
HP:0010935	Abnormality of the upper urinary tract	284252	KCTD1	ORPHA:2036
HP:0010935	Abnormality of the upper urinary tract	84100	ARL6	OMIM:209900
HP:0010935	Abnormality of the upper urinary tract	79140	CCDC28B	OMIM:209900
HP:0010935	Abnormality of the upper urinary tract	582	BBS1	OMIM:209900
HP:0010935	Abnormality of the upper urinary tract	546	ATRX	ORPHA:847
HP:0010935	Abnormality of the upper urinary tract	22827	PUF60	ORPHA:508488
HP:0010935	Abnormality of the upper urinary tract	10483	SEC23B	ORPHA:201
HP:0010935	Abnormality of the upper urinary tract	5728	PTEN	ORPHA:201
HP:0010935	Abnormality of the upper urinary tract	6390	SDHB	ORPHA:201
HP:0010935	Abnormality of the upper urinary tract	6392	SDHD	ORPHA:201
HP:0010935	Abnormality of the upper urinary tract	6391	SDHC	ORPHA:201
HP:0010935	Abnormality of the upper urinary tract	207	AKT1	ORPHA:201
HP:0010935	Abnormality of the upper urinary tract	205717	USF3	ORPHA:201
HP:0010935	Abnormality of the upper urinary tract	5290	PIK3CA	ORPHA:201
HP:0010935	Abnormality of the upper urinary tract	100144748	KLLN	ORPHA:201
HP:0010935	Abnormality of the upper urinary tract	4627	MYH9	OMIM:155100
HP:0010935	Abnormality of the upper urinary tract	10815	CPLX1	ORPHA:280
HP:0010935	Abnormality of the upper urinary tract	54872	PIGG	ORPHA:280
HP:0010935	Abnormality of the upper urinary tract	7469	NELFA	ORPHA:280
HP:0010935	Abnormality of the upper urinary tract	1487	CTBP1	ORPHA:280
HP:0010935	Abnormality of the upper urinary tract	3954	LETM1	ORPHA:280
HP:0010935	Abnormality of the upper urinary tract	7468	NSD2	ORPHA:280
HP:0010935	Abnormality of the upper urinary tract	92949	ADAMTSL1	ORPHA:521445
HP:0010935	Abnormality of the upper urinary tract	6638	SNRPN	ORPHA:177907
HP:0010935	Abnormality of the upper urinary tract	9487	PIGL	ORPHA:3474
HP:0010935	Abnormality of the upper urinary tract	4613	MYCN	ORPHA:391641
HP:0010935	Abnormality of the upper urinary tract	392255	GDF6	OMIM:118100
HP:0010935	Abnormality of the upper urinary tract	2321	FLT1	ORPHA:275555
HP:0010935	Abnormality of the upper urinary tract	219736	STOX1	ORPHA:275555
HP:0010935	Abnormality of the upper urinary tract	10699	CORIN	ORPHA:275555
HP:0010935	Abnormality of the upper urinary tract	5590	PRKCZ	ORPHA:1606
HP:0010935	Abnormality of the upper urinary tract	2563	GABRD	ORPHA:1606
HP:0010935	Abnormality of the upper urinary tract	23013	SPEN	ORPHA:1606
HP:0010935	Abnormality of the upper urinary tract	8510	MMP23B	ORPHA:1606
HP:0010935	Abnormality of the upper urinary tract	7798	LUZP1	ORPHA:1606
HP:0010935	Abnormality of the upper urinary tract	6497	SKI	ORPHA:1606
HP:0010935	Abnormality of the upper urinary tract	10630	PDPN	ORPHA:1606
HP:0010935	Abnormality of the upper urinary tract	10277	UBE4B	ORPHA:1606
HP:0010935	Abnormality of the upper urinary tract	8514	KCNAB2	ORPHA:1606
HP:0010935	Abnormality of the upper urinary tract	473	RERE	ORPHA:1606
HP:0010935	Abnormality of the upper urinary tract	63976	PRDM16	ORPHA:1606
HP:0010935	Abnormality of the upper urinary tract	54897	CASZ1	ORPHA:1606
HP:0010935	Abnormality of the upper urinary tract	56052	ALG1	ORPHA:79327
HP:0010935	Abnormality of the upper urinary tract	79228	THOC6	ORPHA:363444
HP:0010935	Abnormality of the upper urinary tract	79813	EHMT1	ORPHA:261652
HP:0010935	Abnormality of the upper urinary tract	58508	KMT2C	ORPHA:261652
HP:0010935	Abnormality of the upper urinary tract	27086	FOXP1	ORPHA:391372
HP:0010935	Abnormality of the upper urinary tract	6299	SALL1	ORPHA:857
HP:0010935	Abnormality of the upper urinary tract	51339	DACT1	ORPHA:857
HP:0010935	Abnormality of the upper urinary tract	91949	COG7	ORPHA:79333
HP:0010935	Abnormality of the upper urinary tract	4286	MITF	ORPHA:895
HP:0010935	Abnormality of the upper urinary tract	7299	TYR	ORPHA:895
HP:0010935	Abnormality of the upper urinary tract	6591	SNAI2	ORPHA:895
HP:0010935	Abnormality of the upper urinary tract	1910	EDNRB	ORPHA:895
HP:0010935	Abnormality of the upper urinary tract	4254	KITLG	ORPHA:895
HP:0010935	Abnormality of the upper urinary tract	6663	SOX10	ORPHA:895
HP:0010935	Abnormality of the upper urinary tract	4854	NOTCH3	ORPHA:2591
HP:0010935	Abnormality of the upper urinary tract	5159	PDGFRB	ORPHA:2591
HP:0010935	Abnormality of the upper urinary tract	3458	IFNG	ORPHA:805
HP:0010935	Abnormality of the upper urinary tract	7248	TSC1	ORPHA:805
HP:0010935	Abnormality of the upper urinary tract	7249	TSC2	ORPHA:805
HP:0010935	Abnormality of the upper urinary tract	9939	RBM8A	ORPHA:3320
HP:0010935	Abnormality of the upper urinary tract	5836	PYGL	ORPHA:369
HP:0010935	Abnormality of the upper urinary tract	10736	SIX2	ORPHA:488437
HP:0010935	Abnormality of the upper urinary tract	585	BBS4	OMIM:615982
HP:0010935	Abnormality of the upper urinary tract	6736	SRY	ORPHA:1772
HP:0010935	Abnormality of the upper urinary tract	55315	SLC29A3	ORPHA:168569
HP:0010935	Abnormality of the upper urinary tract	22954	TRIM32	OMIM:615988
HP:0010935	Abnormality of the upper urinary tract	1801	DPH1	ORPHA:459061
HP:0010935	Abnormality of the upper urinary tract	1802	DPH2	ORPHA:459061
HP:0010935	Abnormality of the upper urinary tract	8036	SHOC2	OMIM:607721
HP:0010935	Abnormality of the upper urinary tract	3376	IARS1	OMIM:617093
HP:0010935	Abnormality of the upper urinary tract	3376	IARS1	ORPHA:541423
HP:0010935	Abnormality of the upper urinary tract	23126	POGZ	OMIM:616364
HP:0010935	Abnormality of the upper urinary tract	23126	POGZ	ORPHA:468678
HP:0010935	Abnormality of the upper urinary tract	9894	TELO2	ORPHA:488642
HP:0010935	Abnormality of the upper urinary tract	5700	PSMC1	OMIM:620071
HP:0010935	Abnormality of the upper urinary tract	5594	MAPK1	OMIM:619087
HP:0010935	Abnormality of the upper urinary tract	26191	PTPN22	ORPHA:397
HP:0010935	Abnormality of the upper urinary tract	26191	PTPN22	ORPHA:900
HP:0010935	Abnormality of the upper urinary tract	3106	HLA-B	ORPHA:397
HP:0010935	Abnormality of the upper urinary tract	3106	HLA-B	ORPHA:117
HP:0010935	Abnormality of the upper urinary tract	3106	HLA-B	ORPHA:36426
HP:0010935	Abnormality of the upper urinary tract	8974	P4HA2	ORPHA:397
HP:0010935	Abnormality of the upper urinary tract	4594	MMUT	ORPHA:289916
HP:0010935	Abnormality of the upper urinary tract	4594	MMUT	ORPHA:79312
HP:0010935	Abnormality of the upper urinary tract	355	FAS	ORPHA:3261
HP:0010935	Abnormality of the upper urinary tract	355	FAS	ORPHA:117
HP:0010935	Abnormality of the upper urinary tract	356	FASLG	ORPHA:3261
HP:0010935	Abnormality of the upper urinary tract	843	CASP10	ORPHA:3261
HP:0010935	Abnormality of the upper urinary tract	84942	WDR73	OMIM:251300
HP:0010935	Abnormality of the upper urinary tract	84942	WDR73	ORPHA:83472
HP:0010935	Abnormality of the upper urinary tract	23607	CD2AP	OMIM:607832
HP:0010935	Abnormality of the upper urinary tract	4311	MME	ORPHA:69063
HP:0010935	Abnormality of the upper urinary tract	79947	DHDDS	OMIM:613861
HP:0010935	Abnormality of the upper urinary tract	9640	ZNF592	ORPHA:83472
HP:0010935	Abnormality of the upper urinary tract	9382	COG1	OMIM:611209
HP:0010935	Abnormality of the upper urinary tract	4868	NPHS1	OMIM:256300
HP:0010935	Abnormality of the upper urinary tract	81693	AMN	OMIM:618882
HP:0010935	Abnormality of the upper urinary tract	3043	HBB	OMIM:603903
HP:0010935	Abnormality of the upper urinary tract	8029	CUBN	OMIM:618884
HP:0010935	Abnormality of the upper urinary tract	2859	GPR35	ORPHA:171
HP:0010935	Abnormality of the upper urinary tract	10507	SEMA4D	ORPHA:171
HP:0010935	Abnormality of the upper urinary tract	4485	MST1	ORPHA:171
HP:0010935	Abnormality of the upper urinary tract	6925	TCF4	ORPHA:171
HP:0010935	Abnormality of the upper urinary tract	412	STS	ORPHA:281090
HP:0010935	Abnormality of the upper urinary tract	7840	ALMS1	OMIM:203800
HP:0010935	Abnormality of the upper urinary tract	5224	PGAM2	OMIM:261670
HP:0010935	Abnormality of the upper urinary tract	950	SCARB2	OMIM:254900
HP:0010935	Abnormality of the upper urinary tract	5230	PGK1	ORPHA:713
HP:0010935	Abnormality of the upper urinary tract	5230	PGK1	OMIM:300653
HP:0010935	Abnormality of the upper urinary tract	54345	SOX18	OMIM:137940
HP:0010935	Abnormality of the upper urinary tract	57728	WDR19	ORPHA:474
HP:0010935	Abnormality of the upper urinary tract	79809	TTC21B	ORPHA:474
HP:0010935	Abnormality of the upper urinary tract	10908	PNPLA6	ORPHA:2377
HP:0010935	Abnormality of the upper urinary tract	718	C3	OMIM:613779
HP:0010935	Abnormality of the upper urinary tract	1493	CTLA4	ORPHA:900
HP:0010935	Abnormality of the upper urinary tract	3115	HLA-DPB1	ORPHA:900
HP:0010935	Abnormality of the upper urinary tract	5657	PRTN3	ORPHA:900
HP:0010935	Abnormality of the upper urinary tract	3113	HLA-DPA1	ORPHA:900
HP:0010935	Abnormality of the upper urinary tract	8659	ALDH4A1	ORPHA:79101
HP:0010935	Abnormality of the upper urinary tract	3675	ITGA3	OMIM:614748
HP:0010935	Abnormality of the upper urinary tract	229	ALDOB	ORPHA:469
HP:0010935	Abnormality of the upper urinary tract	3931	LCAT	OMIM:245900
HP:0010935	Abnormality of the upper urinary tract	331	XIAP	ORPHA:538934
HP:0010935	Abnormality of the upper urinary tract	130340	AP1S3	ORPHA:247353
HP:0010935	Abnormality of the upper urinary tract	26525	IL36RN	ORPHA:247353
HP:0010935	Abnormality of the upper urinary tract	57169	ZNFX1	OMIM:619644
HP:0010935	Abnormality of the upper urinary tract	3913	LAMB2	OMIM:614199
HP:0010935	Abnormality of the upper urinary tract	84033	OBSCN	ORPHA:99845
HP:0010935	Abnormality of the upper urinary tract	84033	OBSCN	OMIM:620235
HP:0010935	Abnormality of the upper urinary tract	23175	LPIN1	ORPHA:99845
HP:0010935	Abnormality of the upper urinary tract	4512	MT-CO1	ORPHA:99845
HP:0010935	Abnormality of the upper urinary tract	4514	MT-CO3	ORPHA:99845
HP:0010935	Abnormality of the upper urinary tract	1962	EHHADH	OMIM:615605
HP:0010935	Abnormality of the upper urinary tract	811	CALR	ORPHA:131
HP:0010935	Abnormality of the upper urinary tract	3717	JAK2	ORPHA:131
HP:0010935	Abnormality of the upper urinary tract	2153	F5	ORPHA:131
HP:0010935	Abnormality of the upper urinary tract	79989	IFT56	OMIM:619534
HP:0010935	Abnormality of the upper urinary tract	2717	GLA	OMIM:301500
HP:0010935	Abnormality of the upper urinary tract	2717	GLA	ORPHA:324
HP:0010935	Abnormality of the upper urinary tract	10463	SLC30A9	OMIM:617595
HP:0010935	Abnormality of the upper urinary tract	286204	CRB2	OMIM:219730
HP:0010935	Abnormality of the upper urinary tract	4615	MYD88	ORPHA:33226
HP:0010935	Abnormality of the upper urinary tract	149233	IL23R	ORPHA:117
HP:0010935	Abnormality of the upper urinary tract	6775	STAT4	ORPHA:117
HP:0010935	Abnormality of the upper urinary tract	6775	STAT4	ORPHA:93552
HP:0010935	Abnormality of the upper urinary tract	3586	IL10	ORPHA:117
HP:0010935	Abnormality of the upper urinary tract	1230	CCR1	ORPHA:117
HP:0010935	Abnormality of the upper urinary tract	3592	IL12A	ORPHA:117
HP:0010935	Abnormality of the upper urinary tract	101928376	IL12A-AS1	ORPHA:117
HP:0010935	Abnormality of the upper urinary tract	7099	TLR4	ORPHA:117
HP:0010935	Abnormality of the upper urinary tract	3459	IFNGR1	ORPHA:117
HP:0010935	Abnormality of the upper urinary tract	720	C4A	ORPHA:117
HP:0010935	Abnormality of the upper urinary tract	337867	UBAC2	ORPHA:117
HP:0010935	Abnormality of the upper urinary tract	51752	ERAP1	ORPHA:117
HP:0010935	Abnormality of the upper urinary tract	8302	KLRC4	ORPHA:117
HP:0010935	Abnormality of the upper urinary tract	435	ASL	ORPHA:23
HP:0010935	Abnormality of the upper urinary tract	3426	CFI	OMIM:610984
HP:0010935	Abnormality of the upper urinary tract	6696	SPP1	ORPHA:93552
HP:0010935	Abnormality of the upper urinary tract	6303	SAT1	ORPHA:93552
HP:0010935	Abnormality of the upper urinary tract	3654	IRAK1	ORPHA:93552
HP:0010935	Abnormality of the upper urinary tract	84320	ACBD6	OMIM:620785
HP:0010935	Abnormality of the upper urinary tract	1776	DNASE1L3	ORPHA:36412
HP:0010935	Abnormality of the upper urinary tract	23729	SHPK	ORPHA:440713
HP:0010935	Abnormality of the upper urinary tract	3939	LDHA	OMIM:612933
HP:0010935	Abnormality of the upper urinary tract	1287	COL4A5	OMIM:301050
HP:0010935	Abnormality of the upper urinary tract	10320	IKZF1	ORPHA:36426
HP:0010935	Abnormality of the upper urinary tract	486	FXYD2	OMIM:154020
HP:0010935	Abnormality of the upper urinary tract	23090	ZNF423	ORPHA:2318
HP:0010935	Abnormality of the upper urinary tract	254428	SLC41A1	OMIM:619468
HP:0010935	Abnormality of the upper urinary tract	9451	EIF2AK3	OMIM:226980
HP:0010935	Abnormality of the upper urinary tract	9451	EIF2AK3	ORPHA:1667
HP:0010935	Abnormality of the upper urinary tract	151516	ASPRV1	ORPHA:313
HP:0010935	Abnormality of the upper urinary tract	242	ALOX12B	ORPHA:313
HP:0010935	Abnormality of the upper urinary tract	126410	CYP4F22	ORPHA:313
HP:0010935	Abnormality of the upper urinary tract	6820	SULT2B1	ORPHA:313
HP:0010935	Abnormality of the upper urinary tract	26154	ABCA12	ORPHA:313
HP:0010935	Abnormality of the upper urinary tract	643418	LIPN	ORPHA:313
HP:0010935	Abnormality of the upper urinary tract	59344	ALOXE3	ORPHA:313
HP:0010935	Abnormality of the upper urinary tract	348938	NIPAL4	ORPHA:313
HP:0010935	Abnormality of the upper urinary tract	121214	SDR9C7	ORPHA:313
HP:0010935	Abnormality of the upper urinary tract	7051	TGM1	ORPHA:313
HP:0010935	Abnormality of the upper urinary tract	6338	SCNN1B	OMIM:177200
HP:0010935	Abnormality of the upper urinary tract	6338	SCNN1B	ORPHA:526
HP:0010935	Abnormality of the upper urinary tract	4576	MT-TT	ORPHA:254857
HP:0010935	Abnormality of the upper urinary tract	1286	COL4A4	OMIM:203780
HP:0010935	Abnormality of the upper urinary tract	3257	HPS1	OMIM:203300
HP:0010935	Abnormality of the upper urinary tract	2335	FN1	ORPHA:84090
HP:0010935	Abnormality of the upper urinary tract	2335	FN1	OMIM:601894
HP:0010935	Abnormality of the upper urinary tract	23630	KCNE5	ORPHA:86818
HP:0010935	Abnormality of the upper urinary tract	2182	ACSL4	ORPHA:86818
HP:0010935	Abnormality of the upper urinary tract	100147744	RNU7-1	OMIM:619487
HP:0010935	Abnormality of the upper urinary tract	2628	GATM	OMIM:134600
HP:0010935	Abnormality of the upper urinary tract	100506658	OCLN	OMIM:251290
HP:0010935	Abnormality of the upper urinary tract	50485	SMARCAL1	OMIM:242900
HP:0010935	Abnormality of the upper urinary tract	25974	MMACHC	ORPHA:79282
HP:0010935	Abnormality of the upper urinary tract	25974	MMACHC	OMIM:277400
HP:0010935	Abnormality of the upper urinary tract	6340	SCNN1G	ORPHA:526
HP:0010935	Abnormality of the upper urinary tract	6337	SCNN1A	ORPHA:526
HP:0010935	Abnormality of the upper urinary tract	81494	CFHR5	OMIM:614809
HP:0010935	Abnormality of the upper urinary tract	3735	KARS1	OMIM:619147
HP:0010935	Abnormality of the upper urinary tract	9054	NFS1	OMIM:619386
HP:0010935	Abnormality of the upper urinary tract	1235	CCR6	ORPHA:220393
HP:0010935	Abnormality of the upper urinary tract	1490	CCN2	ORPHA:220393
HP:0010935	Abnormality of the upper urinary tract	3663	IRF5	ORPHA:220393
HP:0010935	Abnormality of the upper urinary tract	857	CAV1	ORPHA:220393
HP:0010935	Abnormality of the upper urinary tract	9935	MAFB	OMIM:166300
HP:0010935	Abnormality of the upper urinary tract	3145	HMBS	ORPHA:79276
HP:0010935	Abnormality of the upper urinary tract	5052	PRDX1	OMIM:277400
HP:0010935	Abnormality of the upper urinary tract	6309	SC5D	ORPHA:46059
HP:0010935	Abnormality of the upper urinary tract	6309	SC5D	OMIM:607330
HP:0010935	Abnormality of the upper urinary tract	10054	UBA2	OMIM:619959
HP:0010935	Abnormality of the upper urinary tract	6650	CAPN15	OMIM:619318
HP:0010935	Abnormality of the upper urinary tract	10274	STAG1	ORPHA:502434
HP:0010935	Abnormality of the upper urinary tract	29998	BICRA	OMIM:619325
HP:0010935	Abnormality of the upper urinary tract	65993	MRPS34	OMIM:617664
HP:0010935	Abnormality of the upper urinary tract	83479	DDX59	OMIM:174300
HP:0010935	Abnormality of the upper urinary tract	10584	COLEC10	OMIM:248340
HP:0010935	Abnormality of the upper urinary tract	6598	SMARCB1	ORPHA:1465
HP:0010935	Abnormality of the upper urinary tract	6659	SOX4	ORPHA:1465
HP:0010935	Abnormality of the upper urinary tract	8289	ARID1A	ORPHA:1465
HP:0010935	Abnormality of the upper urinary tract	5977	DPF2	ORPHA:1465
HP:0010935	Abnormality of the upper urinary tract	6601	SMARCC2	ORPHA:1465
HP:0010935	Abnormality of the upper urinary tract	6602	SMARCD1	ORPHA:1465
HP:0010935	Abnormality of the upper urinary tract	196528	ARID2	ORPHA:1465
HP:0010935	Abnormality of the upper urinary tract	6605	SMARCE1	ORPHA:1465
HP:0010935	Abnormality of the upper urinary tract	1147	CHUK	OMIM:613630
HP:0010935	Abnormality of the upper urinary tract	64093	SMOC1	ORPHA:1106
HP:0010935	Abnormality of the upper urinary tract	8241	RBM10	OMIM:311900
HP:0010935	Abnormality of the upper urinary tract	8241	RBM10	ORPHA:2886
HP:0010935	Abnormality of the upper urinary tract	9508	ADAMTS3	ORPHA:2136
HP:0010935	Abnormality of the upper urinary tract	78989	COLEC11	OMIM:265050
HP:0010935	Abnormality of the upper urinary tract	3187	HNRNPH1	OMIM:620083
HP:0010935	Abnormality of the upper urinary tract	6748	SSR4	ORPHA:370927
HP:0010935	Abnormality of the upper urinary tract	5910	RAP1GDS1	OMIM:620655
HP:0010935	Abnormality of the upper urinary tract	1123	CHN1	ORPHA:233
HP:0010935	Abnormality of the upper urinary tract	6611	SMS	ORPHA:3063
HP:0010935	Abnormality of the upper urinary tract	5932	RBBP8	OMIM:606744
HP:0010935	Abnormality of the upper urinary tract	23384	SPECC1L	ORPHA:1519
HP:0010935	Abnormality of the upper urinary tract	1763	DNA2	OMIM:615807
HP:0010935	Abnormality of the upper urinary tract	90417	KNSTRN	OMIM:613328
HP:0010935	Abnormality of the upper urinary tract	5293	PIK3CD	OMIM:613328
HP:0010935	Abnormality of the upper urinary tract	11005	SPINK5	ORPHA:634
HP:0010935	Abnormality of the upper urinary tract	8942	KYNU	OMIM:617661
HP:0010935	Abnormality of the upper urinary tract	8882	ZPR1	OMIM:619321
HP:0010935	Abnormality of the upper urinary tract	23291	FBXW11	OMIM:618914
HP:0010935	Abnormality of the upper urinary tract	23524	SRRM2	OMIM:620439
HP:0010935	Abnormality of the upper urinary tract	6926	TBX3	ORPHA:3138
HP:0010935	Abnormality of the upper urinary tract	84987	COX14	OMIM:619053
HP:0010935	Abnormality of the upper urinary tract	4509	MT-ATP8	ORPHA:254913
HP:0010935	Abnormality of the upper urinary tract	514	ATP5F1E	ORPHA:254913
HP:0010935	Abnormality of the upper urinary tract	513	ATP5F1D	ORPHA:254913
HP:0010935	Abnormality of the upper urinary tract	498	ATP5F1A	ORPHA:254913
HP:0010935	Abnormality of the upper urinary tract	4508	MT-ATP6	ORPHA:254913
HP:0010935	Abnormality of the upper urinary tract	84833	ATP5MK	ORPHA:254913
HP:0010935	Abnormality of the upper urinary tract	91647	ATPAF2	ORPHA:254913
HP:0010935	Abnormality of the upper urinary tract	91647	ATPAF2	OMIM:604273
HP:0010935	Abnormality of the upper urinary tract	3899	AFF3	OMIM:619297
HP:0010935	Abnormality of the upper urinary tract	54567	DLL4	OMIM:616589
HP:0010935	Abnormality of the upper urinary tract	652	BMP4	OMIM:607932
HP:0010935	Abnormality of the upper urinary tract	1822	ATN1	OMIM:618494
HP:0010935	Abnormality of the upper urinary tract	79633	FAT4	OMIM:615546
HP:0010935	Abnormality of the upper urinary tract	79633	FAT4	ORPHA:314679
HP:0010935	Abnormality of the upper urinary tract	8642	DCHS1	OMIM:601390
HP:0010935	Abnormality of the upper urinary tract	8642	DCHS1	ORPHA:314679
HP:0010935	Abnormality of the upper urinary tract	5972	REN	OMIM:613092
HP:0010935	Abnormality of the upper urinary tract	8364	H4C3	OMIM:619758
HP:0010935	Abnormality of the upper urinary tract	10907	TXNL4A	OMIM:608572
HP:0010935	Abnormality of the upper urinary tract	3708	ITPR1	OMIM:117360
HP:0010935	Abnormality of the upper urinary tract	84919	PPP1R15B	OMIM:616817
HP:0010935	Abnormality of the upper urinary tract	10084	PQBP1	OMIM:309500
HP:0010935	Abnormality of the upper urinary tract	7518	XRCC4	OMIM:616541
HP:0010935	Abnormality of the upper urinary tract	5557	PRIM1	OMIM:620005
HP:0010935	Abnormality of the upper urinary tract	6223	RPS19	OMIM:105650
HP:0010935	Abnormality of the upper urinary tract	4654	MYOD1	OMIM:618975
HP:0010935	Abnormality of the upper urinary tract	27152	INTU	OMIM:617926
HP:0010935	Abnormality of the upper urinary tract	95681	CEP41	OMIM:614464
HP:0010935	Abnormality of the upper urinary tract	22897	CEP164	OMIM:614845
HP:0010935	Abnormality of the upper urinary tract	22897	CEP164	ORPHA:3156
HP:0010935	Abnormality of the upper urinary tract	84662	GLIS2	OMIM:611498
HP:0010935	Abnormality of the upper urinary tract	26146	TRAF3IP1	OMIM:616629
HP:0010935	Abnormality of the upper urinary tract	26146	TRAF3IP1	ORPHA:3156
HP:0010935	Abnormality of the upper urinary tract	54806	AHI1	OMIM:608629
HP:0010935	Abnormality of the upper urinary tract	51134	CEP83	OMIM:615862
HP:0010935	Abnormality of the upper urinary tract	9657	IQCB1	ORPHA:3156
HP:0010935	Abnormality of the upper urinary tract	9657	IQCB1	OMIM:609254
HP:0010935	Abnormality of the upper urinary tract	56945	MRPS22	OMIM:611719
HP:0010935	Abnormality of the upper urinary tract	4536	MT-ND2	ORPHA:255210
HP:0010935	Abnormality of the upper urinary tract	4537	MT-ND3	ORPHA:255210
HP:0010935	Abnormality of the upper urinary tract	4577	MT-TV	ORPHA:255210
HP:0010935	Abnormality of the upper urinary tract	4566	MT-TK	ORPHA:255210
HP:0010935	Abnormality of the upper urinary tract	10651	MTX2	OMIM:619127
HP:0010935	Abnormality of the upper urinary tract	79731	NARS2	OMIM:616239
HP:0010935	Abnormality of the upper urinary tract	144811	LACC1	ORPHA:85414
HP:0010935	Abnormality of the upper urinary tract	3569	IL6	ORPHA:85414
HP:0010935	Abnormality of the upper urinary tract	8651	SOCS1	OMIM:619375
HP:0010935	Abnormality of the upper urinary tract	6892	TAPBP	OMIM:620814
HP:0010935	Abnormality of the upper urinary tract	9722	NOS1AP	OMIM:619155
HP:0010935	Abnormality of the upper urinary tract	10785	WDR4	OMIM:618347
HP:0010935	Abnormality of the upper urinary tract	10785	WDR4	ORPHA:2065
HP:0010935	Abnormality of the upper urinary tract	55505	NOP10	OMIM:620425
HP:0010935	Abnormality of the upper urinary tract	57122	NUP107	OMIM:618348
HP:0010935	Abnormality of the upper urinary tract	57122	NUP107	OMIM:616730
HP:0010935	Abnormality of the upper urinary tract	57122	NUP107	ORPHA:2065
HP:0010935	Abnormality of the upper urinary tract	55746	NUP133	OMIM:618349
HP:0010935	Abnormality of the upper urinary tract	55746	NUP133	ORPHA:2065
HP:0010935	Abnormality of the upper urinary tract	396	ARHGDIA	OMIM:615244
HP:0010935	Abnormality of the upper urinary tract	25959	KANK2	OMIM:617783
HP:0010935	Abnormality of the upper urinary tract	9342	SNAP29	ORPHA:66631
HP:0010935	Abnormality of the upper urinary tract	3716	JAK1	OMIM:618999
HP:0010935	Abnormality of the upper urinary tract	8526	DGKE	OMIM:615008
HP:0010935	Abnormality of the upper urinary tract	7827	NPHS2	OMIM:600995
HP:0010935	Abnormality of the upper urinary tract	27235	COQ2	OMIM:607426
HP:0010935	Abnormality of the upper urinary tract	6786	STIM1	OMIM:612783
HP:0010935	Abnormality of the upper urinary tract	5921	RASA1	ORPHA:90307
HP:0010935	Abnormality of the upper urinary tract	3911	LAMA5	OMIM:620049
HP:0010935	Abnormality of the upper urinary tract	708	C1QBP	OMIM:617713
HP:0010935	Abnormality of the upper urinary tract	83480	PUS3	ORPHA:488627
HP:0010935	Abnormality of the upper urinary tract	79415	CYBC1	OMIM:618935
HP:0010935	Abnormality of the upper urinary tract	6662	SOX9	ORPHA:251510
HP:0010935	Abnormality of the upper urinary tract	6845	VAMP7	ORPHA:251510
HP:0010935	Abnormality of the upper urinary tract	51741	WWOX	ORPHA:251510
HP:0010935	Abnormality of the upper urinary tract	4214	MAP3K1	ORPHA:251510
HP:0010935	Abnormality of the upper urinary tract	2516	NR5A1	ORPHA:251510
HP:0010935	Abnormality of the upper urinary tract	57647	DHX37	ORPHA:251510
HP:0010935	Abnormality of the upper urinary tract	23414	ZFPM2	ORPHA:251510
HP:0010935	Abnormality of the upper urinary tract	190	NR0B1	ORPHA:251510
HP:0010935	Abnormality of the upper urinary tract	2626	GATA4	ORPHA:251510
HP:0010935	Abnormality of the upper urinary tract	55644	OSGEP	OMIM:617729
HP:0010935	Abnormality of the upper urinary tract	55644	OSGEP	ORPHA:2065
HP:0010935	Abnormality of the upper urinary tract	7225	TRPC6	OMIM:603965
HP:0010935	Abnormality of the upper urinary tract	112858	TP53RK	OMIM:617730
HP:0010935	Abnormality of the upper urinary tract	112858	TP53RK	ORPHA:2065
HP:0010935	Abnormality of the upper urinary tract	8879	SGPL1	OMIM:617575
HP:0010935	Abnormality of the upper urinary tract	8270	LAGE3	OMIM:301006
HP:0010935	Abnormality of the upper urinary tract	8270	LAGE3	ORPHA:2065
HP:0010935	Abnormality of the upper urinary tract	5580	PRKCD	OMIM:615559
HP:0010935	Abnormality of the upper urinary tract	6023	RMRP	ORPHA:39041
HP:0010935	Abnormality of the upper urinary tract	3981	LIG4	ORPHA:39041
HP:0010935	Abnormality of the upper urinary tract	5896	RAG1	ORPHA:39041
HP:0010935	Abnormality of the upper urinary tract	5897	RAG2	ORPHA:39041
HP:0010935	Abnormality of the upper urinary tract	64421	DCLRE1C	ORPHA:39041
HP:0010935	Abnormality of the upper urinary tract	100	ADA	ORPHA:39041
HP:0010935	Abnormality of the upper urinary tract	3575	IL7R	ORPHA:39041
HP:0010935	Abnormality of the upper urinary tract	3561	IL2RG	ORPHA:39041
HP:0010935	Abnormality of the upper urinary tract	5800	PTPRO	OMIM:614196
HP:0010935	Abnormality of the upper urinary tract	64135	IFIH1	OMIM:615846
HP:0010935	Abnormality of the upper urinary tract	1736	DKC1	OMIM:301108
HP:0010935	Abnormality of the upper urinary tract	139818	DOCK11	OMIM:301109
HP:0010935	Abnormality of the upper urinary tract	4141	MARS1	ORPHA:401835
HP:0010935	Abnormality of the upper urinary tract	26503	SLC17A5	OMIM:269920
HP:0010935	Abnormality of the upper urinary tract	50943	FOXP3	ORPHA:37042
HP:0010935	Abnormality of the upper urinary tract	51196	PLCE1	OMIM:610725
HP:0010935	Abnormality of the upper urinary tract	29110	TBK1	OMIM:620880
HP:0010935	Abnormality of the upper urinary tract	54443	ANLN	OMIM:616032
HP:0010935	Abnormality of the upper urinary tract	4643	MYO1E	OMIM:614131
HP:0010935	Abnormality of the upper urinary tract	84823	LMNB2	OMIM:608709
HP:0010935	Abnormality of the upper urinary tract	2013	EMP2	OMIM:615861
HP:0010935	Abnormality of the upper urinary tract	7535	ZAP70	OMIM:617006
HP:0010935	Abnormality of the upper urinary tract	7535	ZAP70	ORPHA:911
HP:0010935	Abnormality of the upper urinary tract	57107	PDSS2	OMIM:614652
HP:0010935	Abnormality of the upper urinary tract	79693	YRDC	ORPHA:2065
HP:0010935	Abnormality of the upper urinary tract	51002	TPRKB	ORPHA:2065
HP:0010935	Abnormality of the upper urinary tract	84520	GON7	ORPHA:2065
HP:0010935	Abnormality of the upper urinary tract	3710	ITPR3	OMIM:222100
HP:0010935	Abnormality of the upper urinary tract	158326	FREM1	ORPHA:217266
HP:0010935	Abnormality of the upper urinary tract	158326	FREM1	OMIM:608980
HP:0010935	Abnormality of the upper urinary tract	26281	FGF20	ORPHA:1848
HP:0010935	Abnormality of the upper urinary tract	2674	GFRA1	ORPHA:1848
HP:0010935	Abnormality of the upper urinary tract	7484	WNT9B	ORPHA:1848
HP:0010935	Abnormality of the upper urinary tract	7750	ZMYM2	OMIM:619522
HP:0010935	Abnormality of the upper urinary tract	79971	WLS	OMIM:619648
HP:0010935	Abnormality of the upper urinary tract	2260	FGFR1	ORPHA:280200
HP:0010935	Abnormality of the upper urinary tract	2260	FGFR1	ORPHA:478
HP:0010935	Abnormality of the upper urinary tract	28514	DLL1	ORPHA:280200
HP:0010935	Abnormality of the upper urinary tract	2253	FGF8	ORPHA:280200
HP:0010935	Abnormality of the upper urinary tract	2253	FGF8	ORPHA:478
HP:0010935	Abnormality of the upper urinary tract	6496	SIX3	ORPHA:280200
HP:0010935	Abnormality of the upper urinary tract	7050	TGIF1	ORPHA:280200
HP:0010935	Abnormality of the upper urinary tract	6469	SHH	ORPHA:280200
HP:0010935	Abnormality of the upper urinary tract	51684	SUFU	ORPHA:280200
HP:0010935	Abnormality of the upper urinary tract	7546	ZIC2	ORPHA:280200
HP:0010935	Abnormality of the upper urinary tract	2619	GAS1	ORPHA:280200
HP:0010935	Abnormality of the upper urinary tract	84976	DISP1	ORPHA:280200
HP:0010935	Abnormality of the upper urinary tract	2736	GLI2	ORPHA:280200
HP:0010935	Abnormality of the upper urinary tract	8928	FOXH1	ORPHA:280200
HP:0010935	Abnormality of the upper urinary tract	6997	CRIPTO	ORPHA:280200
HP:0010935	Abnormality of the upper urinary tract	50937	CDON	ORPHA:280200
HP:0010935	Abnormality of the upper urinary tract	6138	RPL15	ORPHA:124
HP:0010935	Abnormality of the upper urinary tract	6165	RPL35A	ORPHA:124
HP:0010935	Abnormality of the upper urinary tract	6132	RPL8	ORPHA:124
HP:0010935	Abnormality of the upper urinary tract	6232	RPS27	ORPHA:124
HP:0010935	Abnormality of the upper urinary tract	55027	HEATR3	ORPHA:124
HP:0010935	Abnormality of the upper urinary tract	6160	RPL31	ORPHA:124
HP:0010935	Abnormality of the upper urinary tract	6201	RPS7	ORPHA:124
HP:0010935	Abnormality of the upper urinary tract	6155	RPL27	ORPHA:124
HP:0010935	Abnormality of the upper urinary tract	6234	RPS28	ORPHA:124
HP:0010935	Abnormality of the upper urinary tract	6229	RPS24	ORPHA:124
HP:0010935	Abnormality of the upper urinary tract	6125	RPL5	ORPHA:124
HP:0010935	Abnormality of the upper urinary tract	6204	RPS10	ORPHA:124
HP:0010935	Abnormality of the upper urinary tract	2623	GATA1	ORPHA:124
HP:0010935	Abnormality of the upper urinary tract	6133	RPL9	ORPHA:124
HP:0010935	Abnormality of the upper urinary tract	11224	RPL35	ORPHA:124
HP:0010935	Abnormality of the upper urinary tract	6218	RPS17	ORPHA:124
HP:0010935	Abnormality of the upper urinary tract	6154	RPL26	ORPHA:124
HP:0010935	Abnormality of the upper urinary tract	6210	RPS15A	ORPHA:124
HP:0010935	Abnormality of the upper urinary tract	90121	TSR2	ORPHA:124
HP:0010935	Abnormality of the upper urinary tract	6141	RPL18	ORPHA:124
HP:0010935	Abnormality of the upper urinary tract	6235	RPS29	ORPHA:124
HP:0010935	Abnormality of the upper urinary tract	51729	WBP11	OMIM:619227
HP:0010935	Abnormality of the upper urinary tract	3640	INSL3	OMIM:219050
HP:0010935	Abnormality of the upper urinary tract	10371	SEMA3A	ORPHA:478
HP:0010935	Abnormality of the upper urinary tract	81848	SPRY4	ORPHA:478
HP:0010935	Abnormality of the upper urinary tract	23767	FLRT3	ORPHA:478
HP:0010935	Abnormality of the upper urinary tract	128674	PROKR2	ORPHA:478
HP:0010935	Abnormality of the upper urinary tract	79625	NDNF	ORPHA:478
HP:0010935	Abnormality of the upper urinary tract	389549	FEZF1	ORPHA:478
HP:0010935	Abnormality of the upper urinary tract	3730	ANOS1	ORPHA:478
HP:0010935	Abnormality of the upper urinary tract	54756	IL17RD	ORPHA:478
HP:0010935	Abnormality of the upper urinary tract	285025	CCDC141	ORPHA:478
HP:0010935	Abnormality of the upper urinary tract	60675	PROK2	ORPHA:478
HP:0010935	Abnormality of the upper urinary tract	1848	DUSP6	ORPHA:478
HP:0010935	Abnormality of the upper urinary tract	6870	TACR3	ORPHA:478
HP:0010935	Abnormality of the upper urinary tract	55717	WDR11	ORPHA:478
HP:0010935	Abnormality of the upper urinary tract	9394	HS6ST1	ORPHA:478
HP:0010935	Abnormality of the upper urinary tract	8820	HESX1	ORPHA:478
HP:0010935	Abnormality of the upper urinary tract	8822	FGF17	ORPHA:478
HP:0010935	Abnormality of the upper urinary tract	26227	PHGDH	OMIM:256520
HP:0010935	Abnormality of the upper urinary tract	7490	WT1	OMIM:608978
HP:0010935	Abnormality of the upper urinary tract	7490	WT1	OMIM:194080
HP:0010935	Abnormality of the upper urinary tract	79659	DYNC2H1	OMIM:613091
HP:0010935	Abnormality of the upper urinary tract	51422	PRKAG2	OMIM:261740
HP:0010935	Abnormality of the upper urinary tract	9158	FIBP	ORPHA:500095
HP:0010935	Abnormality of the upper urinary tract	5314	PKHD1	OMIM:263200
HP:0010935	Abnormality of the upper urinary tract	5314	PKHD1	ORPHA:731
HP:0010935	Abnormality of the upper urinary tract	55503	TRPV6	OMIM:618188
HP:0010935	Abnormality of the upper urinary tract	975	CD81	OMIM:613496
HP:0010935	Abnormality of the upper urinary tract	284086	NEK8	OMIM:620903
HP:0010935	Abnormality of the upper urinary tract	284086	NEK8	OMIM:615415
HP:0010935	Abnormality of the upper urinary tract	199221	DZIP1L	OMIM:617610
HP:0010935	Abnormality of the upper urinary tract	199221	DZIP1L	ORPHA:731
HP:0010935	Abnormality of the upper urinary tract	23394	ADNP	OMIM:615873
HP:0010935	Abnormality of the upper urinary tract	3643	INSR	ORPHA:508
HP:0010935	Abnormality of the upper urinary tract	3643	INSR	OMIM:246200
HP:0010935	Abnormality of the upper urinary tract	2542	SLC37A4	OMIM:232220
HP:0010935	Abnormality of the upper urinary tract	2542	SLC37A4	ORPHA:79259
HP:0010935	Abnormality of the upper urinary tract	7547	ZIC3	OMIM:314390
HP:0010935	Abnormality of the upper urinary tract	7547	ZIC3	OMIM:306955
HP:0010935	Abnormality of the upper urinary tract	11311	VPS45	OMIM:615285
HP:0010935	Abnormality of the upper urinary tract	6288	SAA1	ORPHA:85445
HP:0010935	Abnormality of the upper urinary tract	65082	VPS33A	OMIM:617303
HP:0010935	Abnormality of the upper urinary tract	65082	VPS33A	ORPHA:505248
HP:0010935	Abnormality of the upper urinary tract	22858	CILK1	OMIM:612651
HP:0010935	Abnormality of the upper urinary tract	79158	GNPTAB	OMIM:252500
HP:0010935	Abnormality of the upper urinary tract	745	MYRF	OMIM:618280
HP:0010935	Abnormality of the upper urinary tract	51726	DNAJB11	ORPHA:730
HP:0010935	Abnormality of the upper urinary tract	23193	GANAB	ORPHA:730
HP:0010935	Abnormality of the upper urinary tract	5310	PKD1	ORPHA:730
HP:0010935	Abnormality of the upper urinary tract	5311	PKD2	ORPHA:730
HP:0010935	Abnormality of the upper urinary tract	29880	ALG5	ORPHA:730
HP:0010935	Abnormality of the upper urinary tract	2538	G6PC1	OMIM:232200
HP:0010935	Abnormality of the upper urinary tract	2184	FAH	OMIM:276700
HP:0010935	Abnormality of the upper urinary tract	203286	ANKS6	OMIM:615382
HP:0010935	Abnormality of the upper urinary tract	7289	TULP3	OMIM:619902
HP:0010935	Abnormality of the upper urinary tract	27130	INVS	OMIM:602088
HP:0010935	Abnormality of the upper urinary tract	168667	BMPER	OMIM:608022
HP:0010935	Abnormality of the upper urinary tract	57539	WDR35	OMIM:613610
HP:0010935	Abnormality of the upper urinary tract	57539	WDR35	ORPHA:93271
HP:0010935	Abnormality of the upper urinary tract	57539	WDR35	OMIM:614091
HP:0010935	Abnormality of the upper urinary tract	81570	CLPB	ORPHA:445038
HP:0010935	Abnormality of the upper urinary tract	6718	AKR1D1	ORPHA:79303
HP:0010935	Abnormality of the upper urinary tract	7707	ZNF148	OMIM:617260
HP:0010935	Abnormality of the upper urinary tract	55112	DYNC2I1	ORPHA:93271
HP:0010935	Abnormality of the upper urinary tract	57560	IFT80	ORPHA:93271
HP:0010935	Abnormality of the upper urinary tract	89891	DYNC2I2	ORPHA:93271
HP:0010935	Abnormality of the upper urinary tract	169792	GLIS3	OMIM:610199
HP:0010935	Abnormality of the upper urinary tract	10847	SRCAP	ORPHA:2044
HP:0010935	Abnormality of the upper urinary tract	7086	TKT	ORPHA:488618
HP:0010935	Abnormality of the upper urinary tract	4853	NOTCH2	OMIM:102500
HP:0010935	Abnormality of the upper urinary tract	4853	NOTCH2	OMIM:610205
HP:0010935	Abnormality of the upper urinary tract	7020	TFAP2A	OMIM:113620
HP:0010935	Abnormality of the upper urinary tract	1717	DHCR7	OMIM:270400
HP:0010935	Abnormality of the upper urinary tract	5373	PMM2	OMIM:212065
HP:0010935	Abnormality of the upper urinary tract	6628	SNRPB	OMIM:117650
HP:0010935	Abnormality of the upper urinary tract	29927	SEC61A1	OMIM:617056
HP:0010935	Abnormality of the upper urinary tract	51524	TMEM138	OMIM:614465
HP:0010935	Abnormality of the upper urinary tract	4519	MT-CYB	ORPHA:137675
HP:0010935	Abnormality of the upper urinary tract	5828	PEX2	OMIM:614866
HP:0010935	Abnormality of the upper urinary tract	10283	CWC27	OMIM:250410
HP:0010935	Abnormality of the upper urinary tract	10283	CWC27	ORPHA:166035
HP:0010935	Abnormality of the upper urinary tract	5589	PRKCSH	OMIM:174050
HP:0010935	Abnormality of the upper urinary tract	1859	DYRK1A	ORPHA:464311
HP:0010935	Abnormality of the upper urinary tract	5189	PEX1	OMIM:601539
HP:0010935	Abnormality of the upper urinary tract	5192	PEX10	OMIM:614870
HP:0010935	Abnormality of the upper urinary tract	5075	PAX1	OMIM:615560
HP:0010935	Abnormality of the upper urinary tract	4437	MSH3	OMIM:617100
HP:0010935	Abnormality of the upper urinary tract	4437	MSH3	ORPHA:480536
HP:0010935	Abnormality of the upper urinary tract	4351	MPI	OMIM:602579
HP:0010935	Abnormality of the upper urinary tract	4081	MAB21L1	ORPHA:495875
HP:0010935	Abnormality of the upper urinary tract	153241	CEP120	OMIM:616300
HP:0010935	Abnormality of the upper urinary tract	4041	LRP5	OMIM:617875
HP:0010935	Abnormality of the upper urinary tract	79053	ALG8	OMIM:617874
HP:0010935	Abnormality of the upper urinary tract	5194	PEX13	OMIM:614883
HP:0010935	Abnormality of the upper urinary tract	54916	TMEM260	OMIM:617478
HP:0010935	Abnormality of the upper urinary tract	55005	RMND1	OMIM:614922
HP:0010935	Abnormality of the upper urinary tract	1282	COL4A1	OMIM:611773
HP:0010935	Abnormality of the upper urinary tract	3295	HSD17B4	OMIM:261515
HP:0010935	Abnormality of the upper urinary tract	2317	FLNB	OMIM:272460
HP:0010935	Abnormality of the upper urinary tract	23040	MYT1L	ORPHA:647799
HP:0010935	Abnormality of the upper urinary tract	261734	NPHP4	OMIM:606966
HP:0010935	Abnormality of the upper urinary tract	63929	XPNPEP3	OMIM:613159
HP:0010935	Abnormality of the upper urinary tract	4582	MUC1	OMIM:174000
HP:0010935	Abnormality of the upper urinary tract	9949	AMMECR1	OMIM:300990
HP:0010935	Abnormality of the upper urinary tract	83483	PLVAP	OMIM:618183
HP:0010935	Abnormality of the upper urinary tract	8239	USP9X	ORPHA:480880
HP:0010935	Abnormality of the upper urinary tract	8239	USP9X	OMIM:300968
HP:0010935	Abnormality of the upper urinary tract	6608	SMO	OMIM:241800
HP:0010935	Abnormality of the upper urinary tract	54361	WNT4	ORPHA:2578
HP:0010935	Abnormality of the upper urinary tract	9786	KIAA0586	ORPHA:397715
HP:0010935	Abnormality of the upper urinary tract	2887	GRB10	ORPHA:96182
HP:0010935	Abnormality of the upper urinary tract	10229	COQ7	OMIM:616733
HP:0010935	Abnormality of the upper urinary tract	29954	POMT2	OMIM:236670
HP:0010935	Abnormality of the upper urinary tract	79147	FKRP	OMIM:236670
HP:0010935	Abnormality of the upper urinary tract	2218	FKTN	OMIM:236670
HP:0010935	Abnormality of the upper urinary tract	10585	POMT1	OMIM:236670
HP:0010935	Abnormality of the upper urinary tract	9215	LARGE1	OMIM:236670
HP:0010935	Abnormality of the upper urinary tract	8516	ITGA8	OMIM:191830
HP:0010935	Abnormality of the upper urinary tract	26173	INTS1	OMIM:618571
HP:0010935	Abnormality of the upper urinary tract	4558	MT-TF	ORPHA:550
HP:0010935	Abnormality of the upper urinary tract	4572	MT-TQ	ORPHA:550
HP:0010935	Abnormality of the upper urinary tract	4513	MT-CO2	ORPHA:550
HP:0010935	Abnormality of the upper urinary tract	4578	MT-TW	ORPHA:550
HP:0010935	Abnormality of the upper urinary tract	4540	MT-ND5	ORPHA:550
HP:0010935	Abnormality of the upper urinary tract	4541	MT-ND6	ORPHA:550
HP:0010935	Abnormality of the upper urinary tract	4535	MT-ND1	ORPHA:550
HP:0010935	Abnormality of the upper urinary tract	4538	MT-ND4	ORPHA:550
HP:0010935	Abnormality of the upper urinary tract	4567	MT-TL1	ORPHA:550
HP:0010935	Abnormality of the upper urinary tract	4574	MT-TS1	ORPHA:550
HP:0010935	Abnormality of the upper urinary tract	4575	MT-TS2	ORPHA:550
HP:0010935	Abnormality of the upper urinary tract	4564	MT-TH	ORPHA:550
HP:0010935	Abnormality of the upper urinary tract	7454	WAS	OMIM:301000
HP:0010935	Abnormality of the upper urinary tract	7454	WAS	ORPHA:906
HP:0010935	Abnormality of the upper urinary tract	7456	WIPF1	ORPHA:906
HP:0010935	Abnormality of the upper urinary tract	493856	CISD2	ORPHA:3463
HP:0010935	Abnormality of the upper urinary tract	3766	KCNJ10	ORPHA:705
HP:0010935	Abnormality of the upper urinary tract	2299	FOXI1	ORPHA:705
HP:0010935	Abnormality of the upper urinary tract	5172	SLC26A4	ORPHA:705
HP:0010935	Abnormality of the upper urinary tract	51816	ADA2	ORPHA:820
HP:0010935	Abnormality of the upper urinary tract	5625	PRODH	ORPHA:419
HP:0010935	Abnormality of the upper urinary tract	3090	HIC1	ORPHA:531
HP:0010935	Abnormality of the upper urinary tract	5048	PAFAH1B1	ORPHA:531
HP:0010935	Abnormality of the upper urinary tract	7531	YWHAE	ORPHA:531
HP:0010935	Abnormality of the upper urinary tract	6524	SLC5A2	ORPHA:69076
HP:0010935	Abnormality of the upper urinary tract	11277	TREX1	ORPHA:247691
HP:0010935	Abnormality of the upper urinary tract	1371	CPOX	ORPHA:79273
HP:0010935	Abnormality of the upper urinary tract	1288	COL4A6	ORPHA:1018
HP:0010935	Abnormality of the upper urinary tract	4750	NEK1	OMIM:263520
HP:0010935	Abnormality of the upper urinary tract	157570	ESCO2	ORPHA:3103
HP:0010935	Abnormality of the upper urinary tract	157570	ESCO2	OMIM:268300
HP:0010935	Abnormality of the upper urinary tract	9321	TRIP11	OMIM:184260
HP:0010935	Abnormality of the upper urinary tract	219854	TMEM218	OMIM:619562
HP:0010935	Abnormality of the upper urinary tract	112752	IFT43	OMIM:617866
HP:0010935	Abnormality of the upper urinary tract	9652	SKIC3	ORPHA:84064
HP:0010935	Abnormality of the upper urinary tract	6499	SKIC2	ORPHA:84064
HP:0010935	Abnormality of the upper urinary tract	2110	ETFDH	OMIM:231680
HP:0010935	Abnormality of the upper urinary tract	2108	ETFA	OMIM:231680
HP:0010935	Abnormality of the upper urinary tract	2109	ETFB	OMIM:231680
HP:0010935	Abnormality of the upper urinary tract	54539	NDUFB11	ORPHA:2609
HP:0010935	Abnormality of the upper urinary tract	51103	NDUFAF1	ORPHA:2609
HP:0010935	Abnormality of the upper urinary tract	91942	NDUFAF2	ORPHA:2609
HP:0010935	Abnormality of the upper urinary tract	51300	TIMMDC1	ORPHA:2609
HP:0010935	Abnormality of the upper urinary tract	4716	NDUFB10	ORPHA:2609
HP:0010935	Abnormality of the upper urinary tract	4723	NDUFV1	ORPHA:2609
HP:0010935	Abnormality of the upper urinary tract	55572	FOXRED1	ORPHA:2609
HP:0010935	Abnormality of the upper urinary tract	284184	NDUFAF8	ORPHA:2609
HP:0010935	Abnormality of the upper urinary tract	55863	TMEM126B	ORPHA:2609
HP:0010935	Abnormality of the upper urinary tract	4729	NDUFV2	ORPHA:2609
HP:0010935	Abnormality of the upper urinary tract	4694	NDUFA1	ORPHA:2609
HP:0010935	Abnormality of the upper urinary tract	4720	NDUFS2	ORPHA:2609
HP:0010935	Abnormality of the upper urinary tract	4724	NDUFS4	ORPHA:2609
HP:0010935	Abnormality of the upper urinary tract	4726	NDUFS6	ORPHA:2609
HP:0010935	Abnormality of the upper urinary tract	4728	NDUFS8	ORPHA:2609
HP:0010935	Abnormality of the upper urinary tract	4722	NDUFS3	ORPHA:2609
HP:0010935	Abnormality of the upper urinary tract	79133	NDUFAF5	ORPHA:2609
HP:0010935	Abnormality of the upper urinary tract	126328	NDUFA11	ORPHA:2609
HP:0010935	Abnormality of the upper urinary tract	4709	NDUFB3	ORPHA:2609
HP:0010935	Abnormality of the upper urinary tract	80224	NUBPL	ORPHA:2609
HP:0010935	Abnormality of the upper urinary tract	29078	NDUFAF4	ORPHA:2609
HP:0010935	Abnormality of the upper urinary tract	374291	NDUFS7	ORPHA:2609
HP:0010935	Abnormality of the upper urinary tract	4700	NDUFA6	ORPHA:2609
HP:0010935	Abnormality of the upper urinary tract	4719	NDUFS1	ORPHA:2609
HP:0010935	Abnormality of the upper urinary tract	4715	NDUFB9	ORPHA:2609
HP:0010935	Abnormality of the upper urinary tract	8504	PEX3	OMIM:617370
HP:0010935	Abnormality of the upper urinary tract	6569	SLC34A1	OMIM:616963
HP:0010935	Abnormality of the upper urinary tract	92335	STRADA	ORPHA:500533
HP:0010935	Abnormality of the upper urinary tract	92335	STRADA	OMIM:611087
HP:0010935	Abnormality of the upper urinary tract	2767	GNA11	ORPHA:428
HP:0010935	Abnormality of the upper urinary tract	846	CASR	ORPHA:428
HP:0010935	Abnormality of the upper urinary tract	846	CASR	OMIM:601198
HP:0010935	Abnormality of the upper urinary tract	1184	CLCN5	OMIM:308990
HP:0010935	Abnormality of the upper urinary tract	1184	CLCN5	OMIM:300009
HP:0010935	Abnormality of the upper urinary tract	1184	CLCN5	OMIM:300554
HP:0010935	Abnormality of the upper urinary tract	1184	CLCN5	OMIM:310468
HP:0010935	Abnormality of the upper urinary tract	249	ALPL	OMIM:241500
HP:0010935	Abnormality of the upper urinary tract	6729	SRP54	OMIM:260400
HP:0010935	Abnormality of the upper urinary tract	51119	SBDS	OMIM:260400
HP:0010935	Abnormality of the upper urinary tract	134218	DNAJC21	OMIM:260400
HP:0010935	Abnormality of the upper urinary tract	10686	CLDN16	OMIM:248250
HP:0010935	Abnormality of the upper urinary tract	4952	OCRL	ORPHA:534
HP:0010935	Abnormality of the upper urinary tract	4952	OCRL	OMIM:300555
HP:0010935	Abnormality of the upper urinary tract	58528	RRAGD	OMIM:620152
HP:0010935	Abnormality of the upper urinary tract	2530	FUT8	OMIM:618005
HP:0010935	Abnormality of the upper urinary tract	6521	SLC4A1	OMIM:179800
HP:0010935	Abnormality of the upper urinary tract	6521	SLC4A1	OMIM:611590
HP:0010935	Abnormality of the upper urinary tract	54757	FAM20A	OMIM:204690
HP:0010935	Abnormality of the upper urinary tract	54757	FAM20A	ORPHA:1031
HP:0010935	Abnormality of the upper urinary tract	4358	MPV17	OMIM:256810
HP:0010935	Abnormality of the upper urinary tract	4221	MEN1	ORPHA:99879
HP:0010935	Abnormality of the upper urinary tract	9247	GCM2	ORPHA:99879
HP:0010935	Abnormality of the upper urinary tract	3291	HSD11B2	ORPHA:320
HP:0010935	Abnormality of the upper urinary tract	6557	SLC12A1	OMIM:601678
HP:0010935	Abnormality of the upper urinary tract	26276	VPS33B	OMIM:208085
HP:0010935	Abnormality of the upper urinary tract	3758	KCNJ1	OMIM:241200
HP:0010935	Abnormality of the upper urinary tract	149461	CLDN19	OMIM:248190
HP:0010935	Abnormality of the upper urinary tract	1591	CYP24A1	OMIM:143880
HP:0010935	Abnormality of the upper urinary tract	63894	VIPAS39	OMIM:613404
HP:0010935	Abnormality of the upper urinary tract	56244	BTNL2	ORPHA:797
HP:0010935	Abnormality of the upper urinary tract	3123	HLA-DRB1	ORPHA:797
HP:0010935	Abnormality of the upper urinary tract	9056	SLC7A7	ORPHA:470
HP:0010935	Abnormality of the upper urinary tract	7809	BSND	ORPHA:89938
HP:0010935	Abnormality of the upper urinary tract	1188	CLCNKB	ORPHA:89938
HP:0010935	Abnormality of the upper urinary tract	1188	CLCNKB	OMIM:607364
HP:0010935	Abnormality of the upper urinary tract	1187	CLCNKA	ORPHA:89938
HP:0010935	Abnormality of the upper urinary tract	5251	PHEX	ORPHA:89936
HP:0010935	Abnormality of the upper urinary tract	51095	TRNT1	OMIM:616084
HP:0010935	Abnormality of the upper urinary tract	5167	ENPP1	ORPHA:51608
HP:0010935	Abnormality of the upper urinary tract	5167	ENPP1	ORPHA:758
HP:0010935	Abnormality of the upper urinary tract	368	ABCC6	ORPHA:51608
HP:0010935	Abnormality of the upper urinary tract	368	ABCC6	OMIM:614473
HP:0010935	Abnormality of the upper urinary tract	368	ABCC6	ORPHA:758
HP:0010935	Abnormality of the upper urinary tract	189	AGXT	OMIM:259900
HP:0010935	Abnormality of the upper urinary tract	189	AGXT	ORPHA:93598
HP:0010935	Abnormality of the upper urinary tract	526	ATP6V1B2	ORPHA:79500
HP:0010935	Abnormality of the upper urinary tract	57465	TBC1D24	ORPHA:79500
HP:0010935	Abnormality of the upper urinary tract	4210	MEFV	ORPHA:342
HP:0010935	Abnormality of the upper urinary tract	3251	HPRT1	OMIM:300322
HP:0010935	Abnormality of the upper urinary tract	6506	SLC1A2	OMIM:617105
HP:0010935	Abnormality of the upper urinary tract	476	ATP1A1	OMIM:618314
HP:0010935	Abnormality of the upper urinary tract	476	ATP1A1	ORPHA:564178
HP:0010935	Abnormality of the upper urinary tract	6514	SLC2A2	ORPHA:2088
HP:0010935	Abnormality of the upper urinary tract	5745	PTH1R	OMIM:156400
HP:0010935	Abnormality of the upper urinary tract	326	AIRE	OMIM:240300
HP:0010935	Abnormality of the upper urinary tract	5741	PTH	OMIM:146200
HP:0010935	Abnormality of the upper urinary tract	2591	GALNT3	OMIM:211900
HP:0010935	Abnormality of the upper urinary tract	50628	GEMIN4	OMIM:617913
HP:0010935	Abnormality of the upper urinary tract	1285	COL4A3	OMIM:104200
HP:0010935	Abnormality of the upper urinary tract	5286	PIK3C2A	ORPHA:557003
HP:0010935	Abnormality of the upper urinary tract	50617	ATP6V0A4	OMIM:602722
HP:0010935	Abnormality of the upper urinary tract	7543	ZFX	OMIM:301118
HP:0010935	Abnormality of the upper urinary tract	529	ATP6V1E1	OMIM:617402
HP:0010935	Abnormality of the upper urinary tract	57592	ZNF687	OMIM:616833
HP:0010935	Abnormality of the upper urinary tract	27199	OXGR1	OMIM:620374
HP:0010935	Abnormality of the upper urinary tract	91801	ALKBH8	OMIM:618504
HP:0010935	Abnormality of the upper urinary tract	8496	PPFIBP1	OMIM:620024
HP:0010935	Abnormality of the upper urinary tract	998	CDC42	OMIM:616737
HP:0010935	Abnormality of the upper urinary tract	998	CDC42	ORPHA:487796
HP:0010935	Abnormality of the upper urinary tract	3417	IDH1	ORPHA:99646
HP:0010935	Abnormality of the upper urinary tract	50814	NSDHL	OMIM:308050
HP:0010935	Abnormality of the upper urinary tract	55012	PPP2R3C	OMIM:618419
HP:0010935	Abnormality of the upper urinary tract	2783	GNB2	OMIM:619503
HP:0010935	Abnormality of the upper urinary tract	26057	ANKRD17	OMIM:619504
HP:0010935	Abnormality of the upper urinary tract	6811	STX5	OMIM:620454
HP:0010935	Abnormality of the upper urinary tract	6862	TBXT	OMIM:615709
HP:0010935	Abnormality of the upper urinary tract	5518	PPP2R1A	OMIM:616362
HP:0010935	Abnormality of the upper urinary tract	5518	PPP2R1A	ORPHA:457284
HP:0010935	Abnormality of the upper urinary tract	348180	CTU2	OMIM:618142
HP:0010935	Abnormality of the upper urinary tract	54499	TMCO1	OMIM:213980
HP:0010935	Abnormality of the upper urinary tract	55252	ASXL2	OMIM:617190
HP:0010935	Abnormality of the upper urinary tract	55788	LMBRD1	ORPHA:79284
HP:0010935	Abnormality of the upper urinary tract	2212	FCGR2A	OMIM:152700
HP:0010935	Abnormality of the upper urinary tract	2213	FCGR2B	OMIM:152700
HP:0010935	Abnormality of the upper urinary tract	1773	DNASE1	OMIM:152700
HP:0010935	Abnormality of the upper urinary tract	977	CD151	OMIM:609057
HP:0010935	Abnormality of the upper urinary tract	4570	MT-TN	OMIM:220110
HP:0010935	Abnormality of the upper urinary tract	6834	SURF1	OMIM:220110
HP:0010935	Abnormality of the upper urinary tract	57570	TRMT5	OMIM:616539
HP:0010935	Abnormality of the upper urinary tract	5824	PEX19	OMIM:614886
HP:0010935	Abnormality of the upper urinary tract	84334	COA8	ORPHA:436271
HP:0010935	Abnormality of the upper urinary tract	3762	KCNJ5	ORPHA:37553
HP:0010935	Abnormality of the upper urinary tract	3759	KCNJ2	ORPHA:37553
HP:0010935	Abnormality of the upper urinary tract	6095	RORA	OMIM:618060
HP:0010935	Abnormality of the upper urinary tract	8425	LTBP4	OMIM:613177
HP:0010935	Abnormality of the upper urinary tract	81857	MED25	OMIM:616449
HP:0010935	Abnormality of the upper urinary tract	81857	MED25	ORPHA:464738
HP:0010935	Abnormality of the upper urinary tract	10093	ARPC4	OMIM:620141
HP:0010935	Abnormality of the upper urinary tract	197131	UBR1	OMIM:243800
HP:0010935	Abnormality of the upper urinary tract	197131	UBR1	ORPHA:2315
HP:0010935	Abnormality of the upper urinary tract	93210	PGAP3	ORPHA:247262
HP:0010935	Abnormality of the upper urinary tract	284098	PIGW	ORPHA:247262
HP:0010935	Abnormality of the upper urinary tract	27315	PGAP2	ORPHA:247262
HP:0010935	Abnormality of the upper urinary tract	4001	LMNB1	OMIM:619179
HP:0010935	Abnormality of the upper urinary tract	25885	POLR1A	OMIM:616462
HP:0010935	Abnormality of the upper urinary tract	815	CAMK2A	OMIM:617798
HP:0010935	Abnormality of the upper urinary tract	92579	G6PC3	OMIM:612541
HP:0010935	Abnormality of the upper urinary tract	7994	KAT6A	ORPHA:457193
HP:0010935	Abnormality of the upper urinary tract	7994	KAT6A	OMIM:616268
HP:0010935	Abnormality of the upper urinary tract	23116	TOGARAM1	OMIM:619185
HP:0010935	Abnormality of the upper urinary tract	10682	EBP	ORPHA:35173
HP:0010935	Abnormality of the upper urinary tract	10682	EBP	OMIM:302960
HP:0010935	Abnormality of the upper urinary tract	11193	WBP4	OMIM:620852
HP:0010935	Abnormality of the upper urinary tract	54888	NSUN2	ORPHA:235
HP:0010935	Abnormality of the upper urinary tract	2065	ERBB3	OMIM:607598
HP:0010935	Abnormality of the upper urinary tract	4683	NBN	OMIM:251260
HP:0010935	Abnormality of the upper urinary tract	5648	MASP1	OMIM:257920
HP:0010935	Abnormality of the upper urinary tract	388015	RTL1	ORPHA:254528
HP:0010935	Abnormality of the upper urinary tract	8788	DLK1	ORPHA:254528
HP:0010935	Abnormality of the upper urinary tract	55384	MEG3	ORPHA:254528
HP:0010935	Abnormality of the upper urinary tract	389827	MYMK	ORPHA:1358
HP:0010935	Abnormality of the upper urinary tract	101929726	MYMX	ORPHA:1358
HP:0010935	Abnormality of the upper urinary tract	400569	MED11	OMIM:620327
HP:0010935	Abnormality of the upper urinary tract	5604	MAP2K1	ORPHA:1340
HP:0010935	Abnormality of the upper urinary tract	5605	MAP2K2	ORPHA:1340
HP:0010935	Abnormality of the upper urinary tract	2019	EN1	OMIM:619218
HP:0010935	Abnormality of the upper urinary tract	23111	SPART	ORPHA:101000
HP:0010935	Abnormality of the upper urinary tract	64864	RFX7	OMIM:620330
HP:0010935	Abnormality of the upper urinary tract	10526	IPO8	OMIM:619472
HP:0010935	Abnormality of the upper urinary tract	2892	GRIA3	ORPHA:364028
HP:0010935	Abnormality of the upper urinary tract	55617	TASP1	OMIM:618950
HP:0010935	Abnormality of the upper urinary tract	202018	TAPT1	OMIM:616897
HP:0010935	Abnormality of the upper urinary tract	9897	WASHC5	OMIM:220210
HP:0010935	Abnormality of the upper urinary tract	9897	WASHC5	ORPHA:7
HP:0010935	Abnormality of the upper urinary tract	10491	CRTAP	OMIM:610682
HP:0010935	Abnormality of the upper urinary tract	5236	PGM1	OMIM:614921
HP:0010935	Abnormality of the upper urinary tract	10295	BCKDK	OMIM:614923
HP:0010935	Abnormality of the upper urinary tract	219844	HYLS1	OMIM:236680
HP:0010935	Abnormality of the upper urinary tract	28952	CCDC22	ORPHA:7
HP:0010935	Abnormality of the upper urinary tract	57020	VPS35L	ORPHA:7
HP:0010935	Abnormality of the upper urinary tract	56896	DPYSL5	ORPHA:7
HP:0010935	Abnormality of the upper urinary tract	6913	TBX15	OMIM:260660
HP:0010935	Abnormality of the upper urinary tract	375056	MIA3	OMIM:619269
HP:0010935	Abnormality of the upper urinary tract	1497	CTNS	OMIM:219800
HP:0010935	Abnormality of the upper urinary tract	7421	VDR	ORPHA:93160
HP:0010935	Abnormality of the upper urinary tract	776	CACNA1D	OMIM:615474
HP:0010935	Abnormality of the upper urinary tract	776	CACNA1D	ORPHA:369929
HP:0010935	Abnormality of the upper urinary tract	3081	HGD	OMIM:203500
HP:0010935	Abnormality of the upper urinary tract	3081	HGD	ORPHA:56
HP:0010935	Abnormality of the upper urinary tract	1119	CHKA	OMIM:620023
HP:0010935	Abnormality of the upper urinary tract	6519	SLC3A1	OMIM:220100
HP:0010935	Abnormality of the upper urinary tract	6519	SLC3A1	ORPHA:163690
HP:0010935	Abnormality of the upper urinary tract	6519	SLC3A1	ORPHA:163693
HP:0010935	Abnormality of the upper urinary tract	11136	SLC7A9	OMIM:220100
HP:0010935	Abnormality of the upper urinary tract	6523	SLC5A1	ORPHA:35710
HP:0010935	Abnormality of the upper urinary tract	55034	MOCOS	OMIM:603592
HP:0010935	Abnormality of the upper urinary tract	525	ATP6V1B1	OMIM:267300
HP:0010935	Abnormality of the upper urinary tract	1491	CTH	ORPHA:212
HP:0010935	Abnormality of the upper urinary tract	9071	CLDN10	OMIM:617671
HP:0010935	Abnormality of the upper urinary tract	153642	ARSK	OMIM:619698
HP:0010935	Abnormality of the upper urinary tract	3756	KCNH1	OMIM:135500
HP:0010935	Abnormality of the upper urinary tract	113189	CHST14	ORPHA:2953
HP:0010935	Abnormality of the upper urinary tract	29940	DSE	ORPHA:2953
HP:0010935	Abnormality of the upper urinary tract	2200	FBN1	ORPHA:2833
HP:0010935	Abnormality of the upper urinary tract	3872	KRT17	ORPHA:841
HP:0010935	Abnormality of the upper urinary tract	5340	PLG	ORPHA:722
HP:0010935	Abnormality of the upper urinary tract	5340	PLG	OMIM:217090
HP:0010935	Abnormality of the upper urinary tract	10555	AGPAT2	OMIM:608594
HP:0010935	Abnormality of the upper urinary tract	1175	AP2S1	OMIM:600740
HP:0010935	Abnormality of the upper urinary tract	64127	NOD2	OMIM:617321
HP:0010935	Abnormality of the upper urinary tract	5333	PLCD1	ORPHA:2387
HP:0010935	Abnormality of the upper urinary tract	9049	AIP	OMIM:219090
HP:0010935	Abnormality of the upper urinary tract	9101	USP8	OMIM:219090
HP:0010935	Abnormality of the upper urinary tract	760	CA2	ORPHA:2785
HP:0010935	Abnormality of the upper urinary tract	6505	SLC1A1	OMIM:222730
HP:0010935	Abnormality of the upper urinary tract	26580	BSCL2	OMIM:269700
HP:0010935	Abnormality of the upper urinary tract	9368	NHERF1	OMIM:612287
HP:0010935	Abnormality of the upper urinary tract	9681	DEPDC5	OMIM:620504
HP:0010935	Abnormality of the upper urinary tract	540	ATP7B	ORPHA:905
HP:0010935	Abnormality of the upper urinary tract	540	ATP7B	OMIM:277900
HP:0010935	Abnormality of the upper urinary tract	92667	MGME1	ORPHA:352447
HP:0010935	Abnormality of the upper urinary tract	2947	GSTM3	ORPHA:586
HP:0010935	Abnormality of the upper urinary tract	7040	TGFB1	ORPHA:586
HP:0010935	Abnormality of the upper urinary tract	2729	GCLC	ORPHA:586
HP:0010935	Abnormality of the upper urinary tract	1084	CEACAM3	ORPHA:586
HP:0010935	Abnormality of the upper urinary tract	6556	SLC11A1	ORPHA:586
HP:0010935	Abnormality of the upper urinary tract	51164	DCTN4	ORPHA:586
HP:0010935	Abnormality of the upper urinary tract	3783	KCNN4	ORPHA:586
HP:0010935	Abnormality of the upper urinary tract	4282	MIF	ORPHA:586
HP:0010935	Abnormality of the upper urinary tract	6550	SLC9A3	ORPHA:586
HP:0010935	Abnormality of the upper urinary tract	3162	HMOX1	ORPHA:586
HP:0010935	Abnormality of the upper urinary tract	115019	SLC26A9	ORPHA:586
HP:0010935	Abnormality of the upper urinary tract	3077	HFE	ORPHA:586
HP:0010935	Abnormality of the upper urinary tract	11254	SLC6A14	ORPHA:586
HP:0010935	Abnormality of the upper urinary tract	5265	SERPINA1	ORPHA:586
HP:0010935	Abnormality of the upper urinary tract	22802	CLCA4	ORPHA:586
HP:0010935	Abnormality of the upper urinary tract	4680	CEACAM6	ORPHA:586
HP:0010935	Abnormality of the upper urinary tract	10398	MYL9	OMIM:619365
HP:0010935	Abnormality of the upper urinary tract	9581	PREPL	ORPHA:163690
HP:0010935	Abnormality of the upper urinary tract	9581	PREPL	ORPHA:163693
HP:0010935	Abnormality of the upper urinary tract	90	ACVR1	ORPHA:337
HP:0010935	Abnormality of the upper urinary tract	5495	PPM1B	ORPHA:163693
HP:0010935	Abnormality of the upper urinary tract	79823	CAMKMT	ORPHA:163693
HP:0010935	Abnormality of the upper urinary tract	1027	CDKN1B	ORPHA:652
HP:0010935	Abnormality of the upper urinary tract	1026	CDKN1A	ORPHA:652
HP:0010935	Abnormality of the upper urinary tract	1030	CDKN2B	ORPHA:652
HP:0010935	Abnormality of the upper urinary tract	1031	CDKN2C	ORPHA:652
HP:0010935	Abnormality of the upper urinary tract	142680	SLC34A3	ORPHA:157215
HP:0010935	Abnormality of the upper urinary tract	9365	KL	OMIM:617994
HP:0010935	Abnormality of the upper urinary tract	9075	CLDN2	OMIM:301060
HP:0010935	Abnormality of the upper urinary tract	6476	SI	OMIM:222900
HP:0010935	Abnormality of the upper urinary tract	51004	COQ6	OMIM:614650
HP:0010935	Abnormality of the upper urinary tract	55367	PIDD1	OMIM:619827
HP:0010935	Abnormality of the upper urinary tract	84168	ANTXR1	ORPHA:2067
HP:0010935	Abnormality of the upper urinary tract	161742	SPRED1	ORPHA:137605
HP:0010935	Abnormality of the upper urinary tract	871	SERPINH1	OMIM:613848
HP:0010935	Abnormality of the upper urinary tract	10861	SLC26A1	OMIM:620372
HP:0010935	Abnormality of the upper urinary tract	4179	CD46	OMIM:612922
HP:0010935	Abnormality of the upper urinary tract	629	CFB	OMIM:612924
HP:0010935	Abnormality of the upper urinary tract	7056	THBD	OMIM:612926
HP:0010935	Abnormality of the upper urinary tract	6720	SREBF1	OMIM:158310
HP:0010935	Abnormality of the upper urinary tract	2158	F9	OMIM:306900
HP:0010935	Abnormality of the upper urinary tract	23395	LARS2	OMIM:617021
HP:0010935	Abnormality of the upper urinary tract	10413	YAP1	ORPHA:1473
HP:0010935	Abnormality of the upper urinary tract	10413	YAP1	OMIM:120433
HP:0010935	Abnormality of the upper urinary tract	2215	FCGR3B	ORPHA:536
HP:0010935	Abnormality of the upper urinary tract	3684	ITGAM	ORPHA:536
HP:0010935	Abnormality of the upper urinary tract	221895	JAZF1	ORPHA:536
HP:0010935	Abnormality of the upper urinary tract	7292	TNFSF4	ORPHA:536
HP:0010935	Abnormality of the upper urinary tract	55024	BANK1	ORPHA:536
HP:0010935	Abnormality of the upper urinary tract	3500	IGHG1	ORPHA:536
HP:0010935	Abnormality of the upper urinary tract	1380	CR2	ORPHA:536
HP:0010935	Abnormality of the upper urinary tract	5133	PDCD1	ORPHA:536
HP:0010935	Abnormality of the upper urinary tract	2113	ETS1	ORPHA:536
HP:0010935	Abnormality of the upper urinary tract	10318	TNIP1	ORPHA:536
HP:0010935	Abnormality of the upper urinary tract	7332	UBE2L3	ORPHA:536
HP:0010935	Abnormality of the upper urinary tract	79932	KIAA0319L	ORPHA:536
HP:0010935	Abnormality of the upper urinary tract	4204	MECP2	ORPHA:536
HP:0010935	Abnormality of the upper urinary tract	721	C4B	ORPHA:536
HP:0010935	Abnormality of the upper urinary tract	51284	TLR7	ORPHA:536
HP:0010935	Abnormality of the upper urinary tract	54899	PXK	ORPHA:536
HP:0010935	Abnormality of the upper urinary tract	7128	TNFAIP3	ORPHA:536
HP:0010935	Abnormality of the upper urinary tract	55109	AGGF1	ORPHA:90308
HP:0010935	Abnormality of the upper urinary tract	2159	F10	ORPHA:328
HP:0010935	Abnormality of the upper urinary tract	2034	EPAS1	ORPHA:276621
HP:0010935	Abnormality of the upper urinary tract	9103	FCGR2C	ORPHA:3002
HP:0010935	Abnormality of the upper urinary tract	84818	IL17RC	ORPHA:1334
HP:0010935	Abnormality of the upper urinary tract	64581	CLEC7A	ORPHA:1334
HP:0010935	Abnormality of the upper urinary tract	23765	IL17RA	ORPHA:1334
HP:0010935	Abnormality of the upper urinary tract	10758	TRAF3IP2	ORPHA:1334
HP:0010935	Abnormality of the upper urinary tract	112744	IL17F	ORPHA:1334
HP:0010935	Abnormality of the upper urinary tract	54	ACP5	ORPHA:1855
HP:0010935	Abnormality of the upper urinary tract	6711	SPTBN1	OMIM:619475
HP:0010935	Abnormality of the upper urinary tract	5345	SERPINF2	ORPHA:79
HP:0010935	Abnormality of the upper urinary tract	3075	CFH	OMIM:609814
HP:0010935	Abnormality of the upper urinary tract	3998	LMAN1	ORPHA:35909
HP:0010935	Abnormality of the upper urinary tract	90411	MCFD2	ORPHA:35909
HP:0010935	Abnormality of the upper urinary tract	9688	NUP93	OMIM:616892
HP:0010935	Abnormality of the upper urinary tract	10253	SPRY2	OMIM:616818
HP:0010935	Abnormality of the upper urinary tract	2811	GP1BA	ORPHA:853
HP:0010935	Abnormality of the upper urinary tract	3674	ITGA2B	ORPHA:853
HP:0010935	Abnormality of the upper urinary tract	3673	ITGA2	ORPHA:853
HP:0010935	Abnormality of the upper urinary tract	135228	CD109	ORPHA:853
HP:0010935	Abnormality of the upper urinary tract	3690	ITGB3	ORPHA:853
HP:0010935	Abnormality of the upper urinary tract	2157	F8	ORPHA:169805
HP:0010935	Abnormality of the upper urinary tract	5213	PFKM	OMIM:232800
HP:0010935	Abnormality of the upper urinary tract	5371	PML	ORPHA:520
HP:0010935	Abnormality of the upper urinary tract	5914	RARA	ORPHA:520
HP:0010935	Abnormality of the upper urinary tract	359948	IRF2BP2	ORPHA:520
HP:0010935	Abnormality of the upper urinary tract	81608	FIP1L1	ORPHA:520
HP:0010935	Abnormality of the upper urinary tract	4869	NPM1	ORPHA:520
HP:0010935	Abnormality of the upper urinary tract	5573	PRKAR1A	ORPHA:520
HP:0010935	Abnormality of the upper urinary tract	64859	NABP1	ORPHA:520
HP:0010935	Abnormality of the upper urinary tract	6777	STAT5B	ORPHA:520
HP:0010935	Abnormality of the upper urinary tract	4926	NUMA1	ORPHA:520
HP:0010935	Abnormality of the upper urinary tract	7704	ZBTB16	ORPHA:520
HP:0010935	Abnormality of the upper urinary tract	79718	TBL1XR1	ORPHA:520
HP:0010935	Abnormality of the upper urinary tract	2629	GBA1	ORPHA:77261
HP:0010935	Abnormality of the upper urinary tract	2629	GBA1	ORPHA:77259
HP:0010935	Abnormality of the upper urinary tract	10568	SLC34A2	ORPHA:60025
HP:0010935	Abnormality of the upper urinary tract	22909	FAN1	OMIM:614817
HP:0010935	Abnormality of the upper urinary tract	1777	DNASE2	OMIM:619858
HP:0010935	Abnormality of the upper urinary tract	712	C1QA	OMIM:613652
HP:0010935	Abnormality of the upper urinary tract	5238	PGM3	ORPHA:443811
HP:0010935	Abnormality of the upper urinary tract	5238	PGM3	OMIM:615816
HP:0010935	Abnormality of the upper urinary tract	3949	LDLR	ORPHA:391665
HP:0010935	Abnormality of the upper urinary tract	255738	PCSK9	ORPHA:391665
HP:0010935	Abnormality of the upper urinary tract	26119	LDLRAP1	ORPHA:391665
HP:0010935	Abnormality of the upper urinary tract	338	APOB	ORPHA:391665
HP:0010935	Abnormality of the upper urinary tract	64240	ABCG5	ORPHA:391665
HP:0010935	Abnormality of the upper urinary tract	64241	ABCG8	ORPHA:391665
HP:0010935	Abnormality of the upper urinary tract	5105	PCK1	OMIM:261680
HP:0010935	Abnormality of the upper urinary tract	348	APOE	ORPHA:412
HP:0010935	Abnormality of the upper urinary tract	5106	PCK2	OMIM:261650
HP:0010935	Abnormality of the upper urinary tract	83700	JAM3	OMIM:613730
HP:0010935	Abnormality of the upper urinary tract	9526	MPDU1	OMIM:609180
HP:0010935	Abnormality of the upper urinary tract	9526	MPDU1	ORPHA:79323
HP:0010935	Abnormality of the upper urinary tract	7498	XDH	OMIM:278300
HP:0010935	Abnormality of the upper urinary tract	4337	MOCS1	OMIM:252150
HP:0010935	Abnormality of the upper urinary tract	4338	MOCS2	OMIM:252160
HP:0010935	Abnormality of the upper urinary tract	114548	NLRP3	ORPHA:575
HP:0010935	Abnormality of the upper urinary tract	114548	NLRP3	OMIM:191900
HP:0010935	Abnormality of the upper urinary tract	114548	NLRP3	OMIM:120100
HP:0010935	Abnormality of the upper urinary tract	4312	MMP1	ORPHA:79408
HP:0010935	Abnormality of the upper urinary tract	1294	COL7A1	ORPHA:79408
HP:0010935	Abnormality of the upper urinary tract	4069	LYZ	OMIM:620658
HP:0010935	Abnormality of the upper urinary tract	335	APOA1	OMIM:620657
HP:0010935	Abnormality of the upper urinary tract	567	B2M	ORPHA:314652
HP:0010935	Abnormality of the upper urinary tract	2243	FGA	OMIM:105200
HP:0010935	Abnormality of the upper urinary tract	6261	RYR1	ORPHA:466650
HP:0010935	Abnormality of the upper urinary tract	6261	RYR1	ORPHA:423
HP:0010935	Abnormality of the upper urinary tract	779	CACNA1S	ORPHA:423
HP:0010935	Abnormality of the upper urinary tract	101101692	HELLPAR	ORPHA:244242
HP:0010935	Abnormality of the upper urinary tract	6948	TCN2	ORPHA:859
HP:0010935	Abnormality of the upper urinary tract	6773	STAT2	OMIM:618886
HP:0010935	Abnormality of the upper urinary tract	5837	PYGM	ORPHA:368
HP:0010935	Abnormality of the upper urinary tract	226	ALDOA	ORPHA:57
HP:0010935	Abnormality of the upper urinary tract	3593	IL12B	ORPHA:3287
HP:0010935	Abnormality of the upper urinary tract	6945	MLX	ORPHA:3287
HP:0010935	Abnormality of the upper urinary tract	5456	POU3F4	ORPHA:1435
HP:0010935	Abnormality of the upper urinary tract	1374	CPT1A	ORPHA:156
HP:0010935	Abnormality of the upper urinary tract	1374	CPT1A	OMIM:255120
HP:0010935	Abnormality of the upper urinary tract	57551	TAOK1	OMIM:619575
HP:0010935	Abnormality of the upper urinary tract	26235	FBXL4	OMIM:615471
HP:0010935	Abnormality of the upper urinary tract	133686	NADK2	ORPHA:431361
HP:0010935	Abnormality of the upper urinary tract	5257	PHKB	ORPHA:79240
HP:0010935	Abnormality of the upper urinary tract	5256	PHKA2	ORPHA:264580
HP:0010935	Abnormality of the upper urinary tract	5261	PHKG2	ORPHA:264580
HP:0010935	Abnormality of the upper urinary tract	790	CAD	OMIM:616457
HP:0010935	Abnormality of the upper urinary tract	6559	SLC12A3	ORPHA:358
HP:0010935	Abnormality of the upper urinary tract	11222	MRPL3	OMIM:614582
HP:0010935	Abnormality of the upper urinary tract	617	BCS1L	OMIM:124000
HP:0010935	Abnormality of the upper urinary tract	3712	IVD	ORPHA:33
HP:0010935	Abnormality of the upper urinary tract	8671	SLC4A4	OMIM:604278
HP:0010935	Abnormality of the upper urinary tract	84300	UQCC2	OMIM:615824
HP:0010935	Abnormality of the upper urinary tract	5091	PC	OMIM:266150
HP:0010935	Abnormality of the upper urinary tract	11281	POU6F2	OMIM:601583
HP:0010935	Abnormality of the upper urinary tract	11281	POU6F2	ORPHA:654
HP:0010935	Abnormality of the upper urinary tract	716	C1S	OMIM:617174
HP:0010935	Abnormality of the upper urinary tract	9759	HDAC4	ORPHA:1001
HP:0010935	Abnormality of the upper urinary tract	5978	REST	OMIM:616806
HP:0010935	Abnormality of the upper urinary tract	5978	REST	ORPHA:654
HP:0010935	Abnormality of the upper urinary tract	60529	ALX4	ORPHA:52022
HP:0010935	Abnormality of the upper urinary tract	51317	PHF21A	ORPHA:52022
HP:0010935	Abnormality of the upper urinary tract	9319	TRIP13	ORPHA:654
HP:0010935	Abnormality of the upper urinary tract	9319	TRIP13	OMIM:617598
HP:0010935	Abnormality of the upper urinary tract	9319	TRIP13	ORPHA:1052
HP:0010935	Abnormality of the upper urinary tract	10155	TRIM28	ORPHA:654
HP:0010935	Abnormality of the upper urinary tract	283120	H19	ORPHA:654
HP:0010935	Abnormality of the upper urinary tract	283120	H19	ORPHA:2128
HP:0010935	Abnormality of the upper urinary tract	283120	H19	OMIM:194070
HP:0010935	Abnormality of the upper urinary tract	5727	PTCH1	ORPHA:77301
HP:0010935	Abnormality of the upper urinary tract	641	BLM	ORPHA:125
HP:0010935	Abnormality of the upper urinary tract	9184	BUB3	ORPHA:1052
HP:0010935	Abnormality of the upper urinary tract	9702	CEP57	ORPHA:1052
HP:0010935	Abnormality of the upper urinary tract	4591	TRIM37	OMIM:253250
HP:0010935	Abnormality of the upper urinary tract	9663	LPIN2	ORPHA:77297
HP:0010935	Abnormality of the upper urinary tract	2147	F2	ORPHA:325
HP:0010935	Abnormality of the upper urinary tract	6664	SOX11	OMIM:615866
HP:0010935	Abnormality of the upper urinary tract	54914	FOCAD	OMIM:619991
HP:0010935	Abnormality of the upper urinary tract	6091	ROBO1	OMIM:620305
HP:0010935	Abnormality of the upper urinary tract	10015	PDCD6IP	OMIM:620047
HP:0010935	Abnormality of the upper urinary tract	81	ACTN4	OMIM:603278
HP:0010935	Abnormality of the upper urinary tract	57511	COG6	OMIM:614576
HP:0010935	Abnormality of the upper urinary tract	54938	SARS2	OMIM:613845
HP:0010935	Abnormality of the upper urinary tract	93649	MYOCD	OMIM:618719
HP:0010935	Abnormality of the upper urinary tract	25914	RTTN	ORPHA:468631
HP:0010935	Abnormality of the upper urinary tract	8802	SUCLG1	ORPHA:17
HP:0010935	Abnormality of the upper urinary tract	84992	PIGY	OMIM:616809
HP:0010935	Abnormality of the upper urinary tract	2137	EXTL3	OMIM:617425
HP:0010935	Abnormality of the upper urinary tract	11231	SEC63	ORPHA:2924
HP:0010935	Abnormality of the upper urinary tract	8449	DHX16	OMIM:618733
HP:0010935	Abnormality of the upper urinary tract	1186	CLCN7	OMIM:618541
HP:0010935	Abnormality of the upper urinary tract	4036	LRP2	OMIM:222448
HP:0010935	Abnormality of the upper urinary tract	29071	C1GALT1C1	OMIM:301110
HP:0010935	Abnormality of the upper urinary tract	4552	MTRR	ORPHA:2169
HP:0010935	Abnormality of the upper urinary tract	55858	TMEM165	OMIM:614727
HP:0010935	Abnormality of the upper urinary tract	10878	CFHR3	OMIM:235400
HP:0010935	Abnormality of the upper urinary tract	3078	CFHR1	OMIM:235400
HP:0010935	Abnormality of the upper urinary tract	137682	NDUFAF6	OMIM:618913
HP:0010935	Abnormality of the upper urinary tract	2632	GBE1	OMIM:232500
HP:0010935	Abnormality of the upper urinary tract	56980	PRDM10	ORPHA:122
HP:0010935	Abnormality of the upper urinary tract	7428	VHL	ORPHA:892
HP:0010935	Abnormality of the upper urinary tract	7428	VHL	ORPHA:29072
HP:0010935	Abnormality of the upper urinary tract	7428	VHL	OMIM:193300
HP:0010935	Abnormality of the upper urinary tract	7428	VHL	OMIM:144700
HP:0010935	Abnormality of the upper urinary tract	595	CCND1	ORPHA:892
HP:0010935	Abnormality of the upper urinary tract	595	CCND1	OMIM:114500
HP:0010935	Abnormality of the upper urinary tract	595	CCND1	OMIM:193300
HP:0010935	Abnormality of the upper urinary tract	699	BUB1	OMIM:114500
HP:0010935	Abnormality of the upper urinary tract	581	BAX	OMIM:114500
HP:0010935	Abnormality of the upper urinary tract	25788	RAD54B	OMIM:114500
HP:0010935	Abnormality of the upper urinary tract	5795	PTPRJ	OMIM:114500
HP:0010935	Abnormality of the upper urinary tract	5157	PDGFRL	OMIM:114500
HP:0010935	Abnormality of the upper urinary tract	1630	DCC	OMIM:114500
HP:0010935	Abnormality of the upper urinary tract	673	BRAF	OMIM:114500
HP:0010935	Abnormality of the upper urinary tract	10395	DLC1	OMIM:114500
HP:0010935	Abnormality of the upper urinary tract	8313	AXIN2	OMIM:114500
HP:0010935	Abnormality of the upper urinary tract	4163	MCC	OMIM:114500
HP:0010935	Abnormality of the upper urinary tract	7097	TLR2	OMIM:114500
HP:0010935	Abnormality of the upper urinary tract	6714	SRC	OMIM:114500
HP:0010935	Abnormality of the upper urinary tract	27030	MLH3	OMIM:114500
HP:0010935	Abnormality of the upper urinary tract	5320	PLA2G2A	OMIM:114500
HP:0010935	Abnormality of the upper urinary tract	6790	AURKA	OMIM:114500
HP:0010935	Abnormality of the upper urinary tract	4893	NRAS	OMIM:114500
HP:0010935	Abnormality of the upper urinary tract	701	BUB1B	OMIM:114500
HP:0010935	Abnormality of the upper urinary tract	5782	PTPN12	OMIM:114500
HP:0010935	Abnormality of the upper urinary tract	7030	TFE3	OMIM:300854
HP:0010935	Abnormality of the upper urinary tract	79798	ARMC5	ORPHA:189427
HP:0010935	Abnormality of the upper urinary tract	23028	KDM1A	ORPHA:189427
HP:0010935	Abnormality of the upper urinary tract	2778	GNAS	ORPHA:189427
HP:0010935	Abnormality of the upper urinary tract	2271	FH	OMIM:150800
HP:0010935	Abnormality of the upper urinary tract	2271	FH	ORPHA:29072
HP:0010935	Abnormality of the upper urinary tract	8314	BAP1	OMIM:614327
HP:0010935	Abnormality of the upper urinary tract	1743	DLST	ORPHA:29072
HP:0010935	Abnormality of the upper urinary tract	4191	MDH2	ORPHA:29072
HP:0010935	Abnormality of the upper urinary tract	5979	RET	ORPHA:29072
HP:0010935	Abnormality of the upper urinary tract	23095	KIF1B	ORPHA:29072
HP:0010935	Abnormality of the upper urinary tract	8402	SLC25A11	ORPHA:29072
HP:0010935	Abnormality of the upper urinary tract	54949	SDHAF2	ORPHA:29072
HP:0010935	Abnormality of the upper urinary tract	55654	TMEM127	ORPHA:29072
HP:0010935	Abnormality of the upper urinary tract	4149	MAX	ORPHA:29072
HP:0010935	Abnormality of the upper urinary tract	55193	PBRM1	OMIM:144700
HP:0010935	Abnormality of the upper urinary tract	4968	OGG1	OMIM:144700
HP:0010935	Abnormality of the upper urinary tract	11236	RNF139	OMIM:144700
HP:0010935	Abnormality of the upper urinary tract	9817	KEAP1	ORPHA:276399
HP:0010935	Abnormality of the upper urinary tract	23405	DICER1	ORPHA:276399
HP:0010935	Abnormality of the upper urinary tract	7373	COL14A1	ORPHA:79501
HP:0010935	Abnormality of the upper urinary tract	79719	AAGAB	ORPHA:79501
HP:0010935	Abnormality of the upper urinary tract	11274	USP18	OMIM:617397
HP:0010935	Abnormality of the upper urinary tract	55191	NADSYN1	OMIM:618845
HP:0010935	Abnormality of the upper urinary tract	57724	EPG5	ORPHA:1493
HP:0010935	Abnormality of the upper urinary tract	27031	NPHP3	OMIM:208540
HP:0010935	Abnormality of the upper urinary tract	538	ATP7A	OMIM:304150
HP:0010935	Abnormality of the upper urinary tract	9380	GRHPR	ORPHA:93599
HP:0010935	Abnormality of the upper urinary tract	79577	CDC73	OMIM:145001
HP:0010935	Abnormality of the upper urinary tract	2304	FOXE1	ORPHA:319487
HP:0010935	Abnormality of the upper urinary tract	3026	HABP2	ORPHA:319487
HP:0010935	Abnormality of the upper urinary tract	9562	MINPP1	ORPHA:319487
HP:0010935	Abnormality of the upper urinary tract	4233	MET	OMIM:605074
HP:0010935	Abnormality of the upper urinary tract	5546	PRCC	OMIM:605074
HP:0010935	Abnormality of the upper urinary tract	4598	MVK	OMIM:260920
HP:0010935	Abnormality of the upper urinary tract	1314	COPA	OMIM:616414
HP:0010935	Abnormality of the upper urinary tract	1636	ACE	OMIM:267430
HP:0010935	Abnormality of the upper urinary tract	183	AGT	OMIM:267430
HP:0010935	Abnormality of the upper urinary tract	185	AGTR1	OMIM:267430
HP:0010935	Abnormality of the upper urinary tract	26873	OPLAH	OMIM:260005
HP:0010935	Abnormality of the upper urinary tract	55811	ADCY10	ORPHA:2197
HP:0010935	Abnormality of the upper urinary tract	55811	ADCY10	OMIM:143870
HP:0010935	Abnormality of the upper urinary tract	51256	TBC1D7	OMIM:248000
HP:0010935	Abnormality of the upper urinary tract	153201	SLC36A2	OMIM:138500
HP:0010935	Abnormality of the upper urinary tract	27238	GPKOW	ORPHA:2570
HP:0010935	Abnormality of the upper urinary tract	80144	FRAS1	ORPHA:2052
HP:0010935	Abnormality of the upper urinary tract	80144	FRAS1	OMIM:219000
HP:0010935	Abnormality of the upper urinary tract	1718	DHCR24	ORPHA:35107
HP:0010935	Abnormality of the upper urinary tract	4038	LRP4	ORPHA:3258
HP:0010935	Abnormality of the upper urinary tract	10225	CD96	ORPHA:1308
HP:0010935	Abnormality of the upper urinary tract	10262	SF3B4	ORPHA:1788
HP:0010935	Abnormality of the upper urinary tract	10210	TOPORS	ORPHA:2754
HP:0010935	Abnormality of the upper urinary tract	9851	KIAA0753	ORPHA:2754
HP:0010935	Abnormality of the upper urinary tract	5147	PDE6D	ORPHA:2754
HP:0010935	Abnormality of the upper urinary tract	8481	OFD1	ORPHA:2754
HP:0010935	Abnormality of the upper urinary tract	317662	FAM149B1	ORPHA:2754
HP:0010935	Abnormality of the upper urinary tract	374654	KIF7	ORPHA:2754
HP:0010935	Abnormality of the upper urinary tract	9573	GDF3	ORPHA:2345
HP:0010935	Abnormality of the upper urinary tract	4222	MEOX1	ORPHA:2345
HP:0010935	Abnormality of the upper urinary tract	129563	DIS3L2	OMIM:267000
HP:0010935	Abnormality of the upper urinary tract	2815	GP9	ORPHA:274
HP:0010935	Abnormality of the upper urinary tract	64218	SEMA4A	ORPHA:440437
HP:0010935	Abnormality of the upper urinary tract	472	ATM	ORPHA:440437
HP:0010935	Abnormality of the upper urinary tract	5426	POLE	ORPHA:440437
HP:0010935	Abnormality of the upper urinary tract	675	BRCA2	ORPHA:440437
HP:0010935	Abnormality of the upper urinary tract	657	BMPR1A	ORPHA:440437
HP:0010935	Abnormality of the upper urinary tract	6224	RPS20	ORPHA:440437
HP:0010935	Abnormality of the upper urinary tract	4595	MUTYH	ORPHA:440437
HP:0010935	Abnormality of the upper urinary tract	5424	POLD1	ORPHA:440437
HP:0010935	Abnormality of the upper urinary tract	11200	CHEK2	ORPHA:440437
HP:0010935	Abnormality of the upper urinary tract	11200	CHEK2	ORPHA:524
HP:0010935	Abnormality of the upper urinary tract	4072	EPCAM	ORPHA:144
HP:0010935	Abnormality of the upper urinary tract	4292	MLH1	ORPHA:144
HP:0010935	Abnormality of the upper urinary tract	5395	PMS2	ORPHA:144
HP:0010935	Abnormality of the upper urinary tract	7048	TGFBR2	ORPHA:144
HP:0010935	Abnormality of the upper urinary tract	2956	MSH6	ORPHA:144
HP:0010935	Abnormality of the upper urinary tract	5378	PMS1	ORPHA:144
HP:0010935	Abnormality of the upper urinary tract	4436	MSH2	ORPHA:144
HP:0010935	Abnormality of the upper urinary tract	126792	B3GALT6	ORPHA:536467
HP:0010935	Abnormality of the upper urinary tract	201163	FLCN	OMIM:135150
HP:0010935	Abnormality of the upper urinary tract	4000	LMNA	ORPHA:79474
HP:0010935	Abnormality of the upper urinary tract	7486	WRN	ORPHA:902
HP:0010935	Abnormality of the upper urinary tract	7157	TP53	ORPHA:524
HP:0010935	Abnormality of the upper urinary tract	1029	CDKN2A	ORPHA:524
HP:0010935	Abnormality of the upper urinary tract	4193	MDM2	ORPHA:524
HP:0010935	Abnormality of the upper urinary tract	1499	CTNNB1	ORPHA:873
HP:0010935	Abnormality of the upper urinary tract	324	APC	ORPHA:873
HP:0010935	Abnormality of the upper urinary tract	117581	TWIST2	ORPHA:1807
HP:0010935	Abnormality of the upper urinary tract	51360	MBTPS2	ORPHA:2273
HP:0010935	Abnormality of the upper urinary tract	7466	WFS1	ORPHA:411590
HP:0010935	Abnormality of the upper urinary tract	1387	CREBBP	ORPHA:592574
HP:0010935	Abnormality of the upper urinary tract	100151683	RNU4ATAC	ORPHA:2636
HP:0010935	Abnormality of the upper urinary tract	63895	PIEZO2	ORPHA:2461
HP:0010935	Abnormality of the upper urinary tract	3767	KCNJ11	ORPHA:99885
HP:0010935	Abnormality of the upper urinary tract	6774	STAT3	ORPHA:99885
HP:0010935	Abnormality of the upper urinary tract	2645	GCK	ORPHA:99885
HP:0010935	Abnormality of the upper urinary tract	3651	PDX1	ORPHA:99885
HP:0010935	Abnormality of the upper urinary tract	6833	ABCC8	ORPHA:99885
HP:0010935	Abnormality of the upper urinary tract	3630	INS	ORPHA:99885
HP:0010935	Abnormality of the upper urinary tract	71	ACTG1	ORPHA:2995
HP:0010935	Abnormality of the upper urinary tract	60	ACTB	ORPHA:2995
HP:0010935	Abnormality of the upper urinary tract	2258	FGF13	OMIM:301058
HP:0010935	Abnormality of the upper urinary tract	9578	CDC42BPB	OMIM:619841
HP:0010935	Abnormality of the upper urinary tract	1182	CLCN3	OMIM:619512
HP:0010935	Abnormality of the upper urinary tract	5297	PI4KA	OMIM:616531
HP:0010935	Abnormality of the upper urinary tract	93627	TBCK	OMIM:616900
HP:0010935	Abnormality of the upper urinary tract	10472	ZBTB18	OMIM:612337
HP:0010935	Abnormality of the upper urinary tract	91179	SCARF2	OMIM:600920
HP:0010935	Abnormality of the upper urinary tract	22800	RRAS2	ORPHA:648
HP:0010935	Abnormality of the upper urinary tract	867	CBL	ORPHA:648
HP:0010935	Abnormality of the upper urinary tract	8216	LZTR1	ORPHA:648
HP:0010935	Abnormality of the upper urinary tract	6016	RIT1	ORPHA:648
HP:0010935	Abnormality of the upper urinary tract	6237	RRAS	ORPHA:648
HP:0010935	Abnormality of the upper urinary tract	22808	MRAS	ORPHA:648
HP:0010935	Abnormality of the upper urinary tract	200734	SPRED2	ORPHA:648
HP:0010935	Abnormality of the upper urinary tract	5922	RASA2	ORPHA:648
HP:0010935	Abnormality of the upper urinary tract	51163	DBR1	OMIM:620510
HP:0010935	Abnormality of the upper urinary tract	374879	ZNF699	OMIM:619488
HP:0010935	Abnormality of the upper urinary tract	1758	DMP1	ORPHA:289176
HP:0010935	Abnormality of the upper urinary tract	4174	MCM5	OMIM:617564
HP:0010935	Abnormality of the upper urinary tract	10149	ADGRG2	ORPHA:48
HP:0010935	Abnormality of the upper urinary tract	1080	CFTR	ORPHA:48
HP:0010935	Abnormality of the upper urinary tract	11146	GLMN	ORPHA:83454
HP:0010935	Abnormality of the upper urinary tract	583	BBS2	OMIM:616562
HP:0010935	Abnormality of the upper urinary tract	7355	SLC35A2	ORPHA:356961
HP:0010935	Abnormality of the upper urinary tract	672	BRCA1	ORPHA:84
HP:0010935	Abnormality of the upper urinary tract	10459	MAD2L2	ORPHA:84
HP:0010935	Abnormality of the upper urinary tract	7516	XRCC2	ORPHA:84
HP:0010935	Abnormality of the upper urinary tract	29089	UBE2T	ORPHA:84
HP:0010935	Abnormality of the upper urinary tract	55120	FANCL	ORPHA:84
HP:0010935	Abnormality of the upper urinary tract	2177	FANCD2	ORPHA:84
HP:0010935	Abnormality of the upper urinary tract	2175	FANCA	ORPHA:84
HP:0010935	Abnormality of the upper urinary tract	2175	FANCA	OMIM:227650
HP:0010935	Abnormality of the upper urinary tract	2187	FANCB	ORPHA:84
HP:0010935	Abnormality of the upper urinary tract	2176	FANCC	ORPHA:84
HP:0010935	Abnormality of the upper urinary tract	2178	FANCE	ORPHA:84
HP:0010935	Abnormality of the upper urinary tract	2188	FANCF	ORPHA:84
HP:0010935	Abnormality of the upper urinary tract	2189	FANCG	ORPHA:84
HP:0010935	Abnormality of the upper urinary tract	5888	RAD51	ORPHA:84
HP:0010935	Abnormality of the upper urinary tract	5889	RAD51C	ORPHA:84
HP:0010935	Abnormality of the upper urinary tract	55159	RFWD3	ORPHA:84
HP:0010935	Abnormality of the upper urinary tract	83990	BRIP1	ORPHA:84
HP:0010935	Abnormality of the upper urinary tract	57697	FANCM	ORPHA:84
HP:0010935	Abnormality of the upper urinary tract	79728	PALB2	ORPHA:84
HP:0010935	Abnormality of the upper urinary tract	84464	SLX4	ORPHA:84
HP:0010935	Abnormality of the upper urinary tract	2072	ERCC4	ORPHA:84
HP:0010935	Abnormality of the upper urinary tract	55215	FANCI	ORPHA:84
HP:0010935	Abnormality of the upper urinary tract	55215	FANCI	OMIM:609053
HP:0010935	Abnormality of the upper urinary tract	4763	NF1	ORPHA:363700
HP:0010935	Abnormality of the upper urinary tract	2263	FGFR2	OMIM:207410
HP:0010935	Abnormality of the upper urinary tract	5447	POR	OMIM:207410
HP:0010935	Abnormality of the upper urinary tract	55690	PACS1	ORPHA:329224
HP:0010935	Abnormality of the upper urinary tract	65250	CPLANE1	OMIM:614615
HP:0010935	Abnormality of the upper urinary tract	5053	PAH	ORPHA:2209
HP:0010935	Abnormality of the upper urinary tract	2006	ELN	OMIM:194050
HP:0010935	Abnormality of the upper urinary tract	51085	MLXIPL	OMIM:194050
HP:0010935	Abnormality of the upper urinary tract	9126	SMC3	OMIM:610759
HP:0010935	Abnormality of the upper urinary tract	55650	PIGV	OMIM:239300
HP:0010935	Abnormality of the upper urinary tract	5551	PRF1	ORPHA:540
HP:0010935	Abnormality of the upper urinary tract	8676	STX11	ORPHA:540
HP:0010935	Abnormality of the upper urinary tract	201294	UNC13D	ORPHA:540
HP:0010935	Abnormality of the upper urinary tract	6813	STXBP2	ORPHA:540
HP:0010935	Abnormality of the upper urinary tract	1019	CDK4	ORPHA:99971
HP:0010935	Abnormality of the upper urinary tract	8091	HMGA2	ORPHA:99971
HP:0010935	Abnormality of the upper urinary tract	7276	TTR	ORPHA:85447
HP:0010935	Abnormality of the upper urinary tract	5191	PEX7	OMIM:266500
HP:0010935	Abnormality of the upper urinary tract	5264	PHYH	OMIM:266500
HP:0010935	Abnormality of the upper urinary tract	6809	STX3	ORPHA:2290
HP:0010935	Abnormality of the upper urinary tract	4645	MYO5B	ORPHA:2290
HP:0010935	Abnormality of the upper urinary tract	11093	ADAMTS13	OMIM:274150
HP:0010935	Abnormality of the upper urinary tract	56606	SLC2A9	ORPHA:94088
HP:0010935	Abnormality of the upper urinary tract	116085	SLC22A12	ORPHA:94088
HP:0010935	Abnormality of the upper urinary tract	112817	HOGA1	ORPHA:93600
HP:0010935	Abnormality of the upper urinary tract	1534	CYB561	OMIM:618182
HP:0010935	Abnormality of the upper urinary tract	23426	GRIP1	OMIM:617667
HP:0010935	Abnormality of the upper urinary tract	341640	FREM2	OMIM:617666
HP:0010935	Abnormality of the upper urinary tract	9928	KIF14	OMIM:617914
HP:0010935	Abnormality of the upper urinary tract	55165	CEP55	OMIM:236500
HP:0010935	Abnormality of the upper urinary tract	5832	ALDH18A1	ORPHA:90348
HP:0010935	Abnormality of the upper urinary tract	10916	MAGED2	OMIM:300971
HP:0010935	Abnormality of the upper urinary tract	5442	POLRMT	OMIM:619743
HP:0010935	Abnormality of the upper urinary tract	113179	ADAT3	ORPHA:363528
HP:0010935	Abnormality of the upper urinary tract	8074	FGF23	OMIM:617993
HP:0010935	Abnormality of the upper urinary tract	1861	TOR1A	OMIM:618947
HP:0010935	Abnormality of the upper urinary tract	78987	CRELD1	OMIM:620771
HP:0010935	Abnormality of the upper urinary tract	10092	ARPC5	OMIM:620565
HP:0010935	Abnormality of the upper urinary tract	6651	SON	ORPHA:500150
HP:0010935	Abnormality of the upper urinary tract	26005	C2CD3	OMIM:615948
HP:0010935	Abnormality of the upper urinary tract	8367	H4C5	OMIM:619950
HP:0010935	Abnormality of the upper urinary tract	1063	CENPF	OMIM:243605
HP:0010935	Abnormality of the upper urinary tract	5081	PAX7	OMIM:618578
HP:0010935	Abnormality of the upper urinary tract	1291	COL6A1	OMIM:158810
HP:0010935	Abnormality of the upper urinary tract	55243	KIRREL1	OMIM:619201
HP:0010935	Abnormality of the upper urinary tract	10677	AVIL	OMIM:618594
HP:0010935	Abnormality of the upper urinary tract	2639	GCDH	ORPHA:25
HP:0010935	Abnormality of the upper urinary tract	64423	INF2	ORPHA:656
HP:0010935	Abnormality of the upper urinary tract	26130	GAPVD1	ORPHA:656
HP:0010935	Abnormality of the upper urinary tract	51479	ANKFY1	ORPHA:656
HP:0010935	Abnormality of the upper urinary tract	23165	NUP205	ORPHA:656
HP:0010935	Abnormality of the upper urinary tract	79902	NUP85	ORPHA:656
HP:0010935	Abnormality of the upper urinary tract	79934	COQ8B	ORPHA:656
HP:0010935	Abnormality of the upper urinary tract	23279	NUP160	ORPHA:656
HP:0010935	Abnormality of the upper urinary tract	9863	MAGI2	ORPHA:656
HP:0010935	Abnormality of the upper urinary tract	8542	APOL1	ORPHA:656
HP:0010935	Abnormality of the upper urinary tract	54885	TBC1D8B	ORPHA:656
HP:0010935	Abnormality of the upper urinary tract	83478	ARHGAP24	ORPHA:656
HP:0010935	Abnormality of the upper urinary tract	55764	IFT122	OMIM:218330
HP:0010935	Abnormality of the upper urinary tract	4914	NTRK1	ORPHA:642
HP:0010935	Abnormality of the upper urinary tract	50484	RRM2B	ORPHA:480
HP:0010935	Abnormality of the upper urinary tract	5498	PPOX	ORPHA:79473
HP:0010935	Abnormality of the upper urinary tract	91461	PKDCC	OMIM:618821
HP:0010935	Abnormality of the upper urinary tract	6522	SLC4A2	OMIM:620366
HP:0010935	Abnormality of the upper urinary tract	5160	PDHA1	ORPHA:79243
HP:0010935	Abnormality of the upper urinary tract	340533	NEXMIF	OMIM:300912
HP:0010935	Abnormality of the upper urinary tract	3265	HRAS	ORPHA:2874
HP:0010935	Abnormality of the upper urinary tract	403	ARL3	OMIM:618161
HP:0010935	Abnormality of the upper urinary tract	57104	PNPLA2	ORPHA:565612
HP:0010935	Abnormality of the upper urinary tract	79796	ALG9	ORPHA:79328
HP:0010935	Abnormality of the upper urinary tract	23500	DAAM2	OMIM:619263
HP:0010935	Abnormality of the upper urinary tract	55898	UNC45A	OMIM:619377
HP:0010935	Abnormality of the upper urinary tract	54805	CNNM2	OMIM:613882
HP:0010935	Abnormality of the upper urinary tract	353	APRT	OMIM:614723
HP:0010935	Abnormality of the upper urinary tract	5631	PRPS1	OMIM:300661
HP:0010935	Abnormality of the upper urinary tract	2934	GSN	OMIM:105120
HP:0010935	Abnormality of the upper urinary tract	6597	SMARCA4	OMIM:613325
HP:0010935	Abnormality of the upper urinary tract	788	SLC25A20	ORPHA:159
HP:0010935	Abnormality of the upper urinary tract	894	CCND2	ORPHA:83473
HP:0010935	Abnormality of the upper urinary tract	5296	PIK3R2	ORPHA:83473
HP:0010935	Abnormality of the upper urinary tract	10000	AKT3	ORPHA:83473
HP:0010935	Abnormality of the upper urinary tract	55784	MCTP2	ORPHA:1596
HP:0010935	Abnormality of the upper urinary tract	22930	RAB3GAP1	ORPHA:2510
HP:0010935	Abnormality of the upper urinary tract	25782	RAB3GAP2	ORPHA:2510
HP:0010935	Abnormality of the upper urinary tract	22931	RAB18	ORPHA:2510
HP:0010935	Abnormality of the upper urinary tract	128637	TBC1D20	ORPHA:2510
HP:0010935	Abnormality of the upper urinary tract	5781	PTPN11	ORPHA:500
HP:0010935	Abnormality of the upper urinary tract	5894	RAF1	ORPHA:500
HP:0010935	Abnormality of the upper urinary tract	50945	TBX22	ORPHA:921
HP:0010935	Abnormality of the upper urinary tract	51322	WAC	ORPHA:466950
HP:0010935	Abnormality of the upper urinary tract	4297	KMT2A	ORPHA:319182
HP:0010935	Abnormality of the upper urinary tract	55249	YY1AP1	OMIM:602531
HP:0010935	Abnormality of the upper urinary tract	1281	COL3A1	ORPHA:286
HP:0010935	Abnormality of the upper urinary tract	6772	STAT1	ORPHA:391487
HP:0010935	Abnormality of the upper urinary tract	9896	FIG4	ORPHA:3472
HP:0010935	Abnormality of the upper urinary tract	55697	VAC14	ORPHA:3472
HP:0010935	Abnormality of the upper urinary tract	64131	XYLT1	OMIM:264800
HP:0010935	Abnormality of the upper urinary tract	64132	XYLT2	OMIM:264800
HP:0010936	Abnormality of the lower urinary tract	554	AVPR2	ORPHA:223
HP:0010936	Abnormality of the lower urinary tract	359	AQP2	ORPHA:223
HP:0010936	Abnormality of the lower urinary tract	7840	ALMS1	ORPHA:64
HP:0010936	Abnormality of the lower urinary tract	6772	STAT1	ORPHA:391487
HP:0010936	Abnormality of the lower urinary tract	823	CAPN1	ORPHA:488594
HP:0010936	Abnormality of the lower urinary tract	23503	ZFYVE26	ORPHA:100996
HP:0010936	Abnormality of the lower urinary tract	113189	CHST14	ORPHA:2953
HP:0010936	Abnormality of the lower urinary tract	29940	DSE	ORPHA:2953
HP:0010936	Abnormality of the lower urinary tract	267	AMFR	OMIM:620379
HP:0010936	Abnormality of the lower urinary tract	253738	EBF3	ORPHA:96148
HP:0010936	Abnormality of the lower urinary tract	91949	COG7	OMIM:608779
HP:0010936	Abnormality of the lower urinary tract	8504	PEX3	OMIM:617370
HP:0010936	Abnormality of the lower urinary tract	92482	BBIP1	ORPHA:110
HP:0010936	Abnormality of the lower urinary tract	11020	IFT27	ORPHA:110
HP:0010936	Abnormality of the lower urinary tract	582	BBS1	ORPHA:110
HP:0010936	Abnormality of the lower urinary tract	49855	SCAPER	ORPHA:110
HP:0010936	Abnormality of the lower urinary tract	4867	NPHP1	ORPHA:110
HP:0010936	Abnormality of the lower urinary tract	51057	WDPCP	ORPHA:110
HP:0010936	Abnormality of the lower urinary tract	132320	SCLT1	ORPHA:110
HP:0010936	Abnormality of the lower urinary tract	27241	BBS9	ORPHA:110
HP:0010936	Abnormality of the lower urinary tract	84984	CEP19	ORPHA:110
HP:0010936	Abnormality of the lower urinary tract	22954	TRIM32	ORPHA:110
HP:0010936	Abnormality of the lower urinary tract	79738	BBS10	ORPHA:110
HP:0010936	Abnormality of the lower urinary tract	123016	TTC8	ORPHA:110
HP:0010936	Abnormality of the lower urinary tract	26160	IFT172	ORPHA:110
HP:0010936	Abnormality of the lower urinary tract	583	BBS2	ORPHA:110
HP:0010936	Abnormality of the lower urinary tract	585	BBS4	ORPHA:110
HP:0010936	Abnormality of the lower urinary tract	54585	LZTFL1	ORPHA:110
HP:0010936	Abnormality of the lower urinary tract	55212	BBS7	ORPHA:110
HP:0010936	Abnormality of the lower urinary tract	166379	BBS12	ORPHA:110
HP:0010936	Abnormality of the lower urinary tract	10806	SDCCAG8	ORPHA:110
HP:0010936	Abnormality of the lower urinary tract	157657	CFAP418	ORPHA:110
HP:0010936	Abnormality of the lower urinary tract	84100	ARL6	ORPHA:110
HP:0010936	Abnormality of the lower urinary tract	129880	BBS5	ORPHA:110
HP:0010936	Abnormality of the lower urinary tract	80173	IFT74	ORPHA:110
HP:0010936	Abnormality of the lower urinary tract	10466	COG5	ORPHA:263487
HP:0010936	Abnormality of the lower urinary tract	10466	COG5	OMIM:613612
HP:0010936	Abnormality of the lower urinary tract	92935	MARS2	OMIM:611390
HP:0010936	Abnormality of the lower urinary tract	55823	VPS11	OMIM:616683
HP:0010936	Abnormality of the lower urinary tract	55823	VPS11	ORPHA:466934
HP:0010936	Abnormality of the lower urinary tract	1161	ERCC8	ORPHA:90324
HP:0010936	Abnormality of the lower urinary tract	2074	ERCC6	ORPHA:90324
HP:0010936	Abnormality of the lower urinary tract	6885	MAP3K7	OMIM:617137
HP:0010936	Abnormality of the lower urinary tract	400916	CHCHD10	OMIM:615911
HP:0010936	Abnormality of the lower urinary tract	4287	ATXN3	ORPHA:276244
HP:0010936	Abnormality of the lower urinary tract	4287	ATXN3	ORPHA:276241
HP:0010936	Abnormality of the lower urinary tract	4287	ATXN3	ORPHA:276238
HP:0010936	Abnormality of the lower urinary tract	493856	CISD2	OMIM:604928
HP:0010936	Abnormality of the lower urinary tract	51112	TRAPPC12	ORPHA:500144
HP:0010936	Abnormality of the lower urinary tract	51112	TRAPPC12	OMIM:617669
HP:0010936	Abnormality of the lower urinary tract	4854	NOTCH3	OMIM:130720
HP:0010936	Abnormality of the lower urinary tract	79803	HPS6	OMIM:614075
HP:0010936	Abnormality of the lower urinary tract	2782	GNB1	OMIM:616973
HP:0010936	Abnormality of the lower urinary tract	3110	MNX1	ORPHA:1552
HP:0010936	Abnormality of the lower urinary tract	3110	MNX1	OMIM:176450
HP:0010936	Abnormality of the lower urinary tract	2050	EPHB4	ORPHA:137667
HP:0010936	Abnormality of the lower urinary tract	5921	RASA1	ORPHA:137667
HP:0010936	Abnormality of the lower urinary tract	9915	ARNT2	OMIM:615926
HP:0010936	Abnormality of the lower urinary tract	10667	FARS2	ORPHA:466722
HP:0010936	Abnormality of the lower urinary tract	23499	MACF1	ORPHA:572013
HP:0010936	Abnormality of the lower urinary tract	387119	CEP85L	ORPHA:572013
HP:0010936	Abnormality of the lower urinary tract	6904	TBCD	ORPHA:496641
HP:0010936	Abnormality of the lower urinary tract	1185	CLCN6	OMIM:619173
HP:0010936	Abnormality of the lower urinary tract	1136	CHRNA3	OMIM:191800
HP:0010936	Abnormality of the lower urinary tract	64834	ELOVL1	OMIM:618527
HP:0010936	Abnormality of the lower urinary tract	123263	MTFMT	OMIM:618248
HP:0010936	Abnormality of the lower urinary tract	2019	EN1	OMIM:619218
HP:0010936	Abnormality of the lower urinary tract	2697	GJA1	ORPHA:2710
HP:0010936	Abnormality of the lower urinary tract	2697	GJA1	OMIM:164200
HP:0010936	Abnormality of the lower urinary tract	2632	GBE1	ORPHA:206583
HP:0010936	Abnormality of the lower urinary tract	2632	GBE1	OMIM:263570
HP:0010936	Abnormality of the lower urinary tract	81839	VANGL1	OMIM:600145
HP:0010936	Abnormality of the lower urinary tract	7466	WFS1	OMIM:222300
HP:0010936	Abnormality of the lower urinary tract	23400	ATP13A2	ORPHA:513436
HP:0010936	Abnormality of the lower urinary tract	3980	LIG3	OMIM:619780
HP:0010936	Abnormality of the lower urinary tract	25793	FBXO7	ORPHA:171695
HP:0010936	Abnormality of the lower urinary tract	6622	SNCA	ORPHA:171695
HP:0010936	Abnormality of the lower urinary tract	55331	ACER3	OMIM:617762
HP:0010936	Abnormality of the lower urinary tract	84667	HES7	OMIM:613686
HP:0010936	Abnormality of the lower urinary tract	93627	TBCK	ORPHA:488632
HP:0010936	Abnormality of the lower urinary tract	5498	PPOX	ORPHA:79473
HP:0010936	Abnormality of the lower urinary tract	9897	WASHC5	OMIM:603563
HP:0010936	Abnormality of the lower urinary tract	9897	WASHC5	ORPHA:100989
HP:0010936	Abnormality of the lower urinary tract	51062	ATL1	ORPHA:100984
HP:0010936	Abnormality of the lower urinary tract	51062	ATL1	OMIM:182600
HP:0010936	Abnormality of the lower urinary tract	23111	SPART	OMIM:275900
HP:0010936	Abnormality of the lower urinary tract	87178	PNPT1	ORPHA:101111
HP:0010936	Abnormality of the lower urinary tract	87178	PNPT1	OMIM:608703
HP:0010936	Abnormality of the lower urinary tract	65018	PINK1	OMIM:605909
HP:0010936	Abnormality of the lower urinary tract	6683	SPAST	ORPHA:100985
HP:0010936	Abnormality of the lower urinary tract	6683	SPAST	OMIM:182601
HP:0010936	Abnormality of the lower urinary tract	59341	TRPV4	OMIM:606071
HP:0010936	Abnormality of the lower urinary tract	3748	KCNC3	ORPHA:98768
HP:0010936	Abnormality of the lower urinary tract	27235	COQ2	OMIM:146500
HP:0010936	Abnormality of the lower urinary tract	6687	SPG7	ORPHA:99013
HP:0010936	Abnormality of the lower urinary tract	6687	SPG7	OMIM:607259
HP:0010936	Abnormality of the lower urinary tract	25814	ATXN10	ORPHA:98761
HP:0010936	Abnormality of the lower urinary tract	25814	ATXN10	OMIM:603516
HP:0010936	Abnormality of the lower urinary tract	123606	NIPA1	OMIM:600363
HP:0010936	Abnormality of the lower urinary tract	478	ATP1A3	OMIM:601338
HP:0010936	Abnormality of the lower urinary tract	9442	MED27	OMIM:619286
HP:0010936	Abnormality of the lower urinary tract	6253	RTN2	OMIM:604805
HP:0010936	Abnormality of the lower urinary tract	6253	RTN2	ORPHA:100993
HP:0010936	Abnormality of the lower urinary tract	27102	EIF2AK1	OMIM:618878
HP:0010936	Abnormality of the lower urinary tract	26278	SACS	OMIM:270550
HP:0010936	Abnormality of the lower urinary tract	80208	SPG11	OMIM:604360
HP:0010936	Abnormality of the lower urinary tract	8913	CACNA1G	ORPHA:458803
HP:0010936	Abnormality of the lower urinary tract	8913	CACNA1G	OMIM:616795
HP:0010936	Abnormality of the lower urinary tract	215	ABCD1	ORPHA:139399
HP:0010936	Abnormality of the lower urinary tract	3329	HSPD1	OMIM:605280
HP:0010936	Abnormality of the lower urinary tract	3329	HSPD1	ORPHA:100994
HP:0010936	Abnormality of the lower urinary tract	5832	ALDH18A1	ORPHA:447753
HP:0010936	Abnormality of the lower urinary tract	5832	ALDH18A1	OMIM:601162
HP:0010936	Abnormality of the lower urinary tract	51271	UBAP1	ORPHA:100993
HP:0010936	Abnormality of the lower urinary tract	51271	UBAP1	OMIM:618418
HP:0010936	Abnormality of the lower urinary tract	126129	CPT1C	ORPHA:444099
HP:0010936	Abnormality of the lower urinary tract	7274	TTPA	ORPHA:96
HP:0010936	Abnormality of the lower urinary tract	3798	KIF5A	ORPHA:100991
HP:0010936	Abnormality of the lower urinary tract	3798	KIF5A	OMIM:604187
HP:0010936	Abnormality of the lower urinary tract	3839	KPNA3	ORPHA:171612
HP:0010936	Abnormality of the lower urinary tract	84842	HPDL	OMIM:619027
HP:0010936	Abnormality of the lower urinary tract	5297	PI4KA	OMIM:619621
HP:0010936	Abnormality of the lower urinary tract	65055	REEP1	OMIM:610250
HP:0010936	Abnormality of the lower urinary tract	2583	B4GALNT1	OMIM:609195
HP:0010936	Abnormality of the lower urinary tract	1200	TPP1	OMIM:609270
HP:0010936	Abnormality of the lower urinary tract	2783	GNB2	OMIM:619503
HP:0010936	Abnormality of the lower urinary tract	2629	GBA1	OMIM:168600
HP:0010936	Abnormality of the lower urinary tract	126	ADH1C	OMIM:168600
HP:0010936	Abnormality of the lower urinary tract	4137	MAPT	OMIM:168600
HP:0010936	Abnormality of the lower urinary tract	4576	MT-TT	OMIM:168600
HP:0010936	Abnormality of the lower urinary tract	9627	SNCAIP	OMIM:168600
HP:0010936	Abnormality of the lower urinary tract	6908	TBP	OMIM:168600
HP:0010936	Abnormality of the lower urinary tract	4929	NR4A2	OMIM:168600
HP:0010936	Abnormality of the lower urinary tract	6311	ATXN2	OMIM:168600
HP:0010936	Abnormality of the lower urinary tract	6315	ATXN8OS	OMIM:168600
HP:0010936	Abnormality of the lower urinary tract	79152	FA2H	OMIM:612319
HP:0010936	Abnormality of the lower urinary tract	2395	FXN	ORPHA:95
HP:0010936	Abnormality of the lower urinary tract	4001	LMNB1	ORPHA:99027
HP:0010936	Abnormality of the lower urinary tract	3909	LAMA3	ORPHA:79404
HP:0010936	Abnormality of the lower urinary tract	3918	LAMC2	ORPHA:79404
HP:0010936	Abnormality of the lower urinary tract	3914	LAMB3	ORPHA:79404
HP:0010936	Abnormality of the lower urinary tract	3845	KRAS	ORPHA:3339
HP:0010936	Abnormality of the lower urinary tract	6804	STX1A	ORPHA:904
HP:0010936	Abnormality of the lower urinary tract	7461	CLIP2	ORPHA:904
HP:0010936	Abnormality of the lower urinary tract	84277	DNAJC30	ORPHA:904
HP:0010936	Abnormality of the lower urinary tract	8468	FKBP6	ORPHA:904
HP:0010936	Abnormality of the lower urinary tract	5982	RFC2	ORPHA:904
HP:0010936	Abnormality of the lower urinary tract	2969	GTF2I	ORPHA:904
HP:0010936	Abnormality of the lower urinary tract	3984	LIMK1	ORPHA:904
HP:0010936	Abnormality of the lower urinary tract	9569	GTF2IRD1	ORPHA:904
HP:0010936	Abnormality of the lower urinary tract	155382	VPS37D	ORPHA:904
HP:0010936	Abnormality of the lower urinary tract	155368	METTL27	ORPHA:904
HP:0010936	Abnormality of the lower urinary tract	114049	BUD23	ORPHA:904
HP:0010936	Abnormality of the lower urinary tract	7458	EIF4H	ORPHA:904
HP:0010936	Abnormality of the lower urinary tract	84163	GTF2IRD2	ORPHA:904
HP:0010936	Abnormality of the lower urinary tract	26608	TBL2	ORPHA:904
HP:0010936	Abnormality of the lower urinary tract	653361	NCF1	ORPHA:904
HP:0010936	Abnormality of the lower urinary tract	135886	TMEM270	ORPHA:904
HP:0010936	Abnormality of the lower urinary tract	9031	BAZ1B	ORPHA:904
HP:0010936	Abnormality of the lower urinary tract	2006	ELN	ORPHA:904
HP:0010936	Abnormality of the lower urinary tract	595	CCND1	ORPHA:29073
HP:0010936	Abnormality of the lower urinary tract	1131	CHRM3	ORPHA:2970
HP:0010936	Abnormality of the lower urinary tract	57679	ALS2	ORPHA:247604
HP:0010936	Abnormality of the lower urinary tract	11160	ERLIN2	ORPHA:247604
HP:0010936	Abnormality of the lower urinary tract	1277	COL1A1	ORPHA:287
HP:0010936	Abnormality of the lower urinary tract	1289	COL5A1	ORPHA:287
HP:0010936	Abnormality of the lower urinary tract	1290	COL5A2	ORPHA:287
HP:0010936	Abnormality of the lower urinary tract	538	ATP7A	ORPHA:565
HP:0010936	Abnormality of the lower urinary tract	538	ATP7A	ORPHA:198
HP:0010936	Abnormality of the lower urinary tract	538	ATP7A	OMIM:304150
HP:0010936	Abnormality of the lower urinary tract	1281	COL3A1	ORPHA:286
HP:0010936	Abnormality of the lower urinary tract	5351	PLOD1	OMIM:225400
HP:0010936	Abnormality of the lower urinary tract	1278	COL1A2	OMIM:617821
HP:0010936	Abnormality of the lower urinary tract	55033	FKBP14	OMIM:614557
HP:0010936	Abnormality of the lower urinary tract	2202	EFEMP1	OMIM:620780
HP:0010936	Abnormality of the lower urinary tract	72	ACTG2	OMIM:155310
HP:0010936	Abnormality of the lower urinary tract	816	CAMK2B	OMIM:617799
HP:0010936	Abnormality of the lower urinary tract	54796	BNC2	ORPHA:93110
HP:0010936	Abnormality of the lower urinary tract	100134444	KCNJ18	ORPHA:79102
HP:0010936	Abnormality of the lower urinary tract	2556	GABRA3	ORPHA:79102
HP:0010936	Abnormality of the lower urinary tract	779	CACNA1S	ORPHA:79102
HP:0010936	Abnormality of the lower urinary tract	3431	SP110	ORPHA:79124
HP:0010936	Abnormality of the lower urinary tract	7040	TGFB1	ORPHA:1328
HP:0010936	Abnormality of the lower urinary tract	5621	PRNP	OMIM:600072
HP:0010936	Abnormality of the lower urinary tract	2131	EXT1	ORPHA:321
HP:0010936	Abnormality of the lower urinary tract	2132	EXT2	ORPHA:321
HP:0010936	Abnormality of the lower urinary tract	171023	ASXL1	ORPHA:97297
HP:0010936	Abnormality of the lower urinary tract	4665	NAB2	ORPHA:2126
HP:0010936	Abnormality of the lower urinary tract	6778	STAT6	ORPHA:2126
HP:0010936	Abnormality of the lower urinary tract	3145	HMBS	OMIM:176000
HP:0010936	Abnormality of the lower urinary tract	3145	HMBS	ORPHA:79276
HP:0010936	Abnormality of the lower urinary tract	353	APRT	ORPHA:976
HP:0010936	Abnormality of the lower urinary tract	291	SLC25A4	ORPHA:254892
HP:0010936	Abnormality of the lower urinary tract	5428	POLG	ORPHA:254892
HP:0010936	Abnormality of the lower urinary tract	56652	TWNK	ORPHA:254892
HP:0010936	Abnormality of the lower urinary tract	11232	POLG2	ORPHA:254892
HP:0010936	Abnormality of the lower urinary tract	50484	RRM2B	ORPHA:254892
HP:0010936	Abnormality of the lower urinary tract	6559	SLC12A3	OMIM:263800
HP:0010936	Abnormality of the lower urinary tract	6559	SLC12A3	ORPHA:358
HP:0010936	Abnormality of the lower urinary tract	8398	PLA2G6	OMIM:612953
HP:0010936	Abnormality of the lower urinary tract	1621	DBH	ORPHA:230
HP:0010936	Abnormality of the lower urinary tract	1621	DBH	OMIM:223360
HP:0010936	Abnormality of the lower urinary tract	1512	CTSH	ORPHA:2073
HP:0010936	Abnormality of the lower urinary tract	5032	P2RY11	ORPHA:2073
HP:0010936	Abnormality of the lower urinary tract	4340	MOG	ORPHA:2073
HP:0010936	Abnormality of the lower urinary tract	3119	HLA-DQB1	ORPHA:2073
HP:0010936	Abnormality of the lower urinary tract	3060	HCRT	ORPHA:2073
HP:0010936	Abnormality of the lower urinary tract	22891	ZNF365	ORPHA:2073
HP:0010936	Abnormality of the lower urinary tract	7292	TNFSF4	ORPHA:2073
HP:0010936	Abnormality of the lower urinary tract	3123	HLA-DRB1	ORPHA:2073
HP:0010936	Abnormality of the lower urinary tract	1188	CLCNKB	ORPHA:358
HP:0010936	Abnormality of the lower urinary tract	55906	ZC4H2	OMIM:301041
HP:0010936	Abnormality of the lower urinary tract	6513	SLC2A1	ORPHA:64280
HP:0010936	Abnormality of the lower urinary tract	2562	GABRB3	ORPHA:64280
HP:0010936	Abnormality of the lower urinary tract	2554	GABRA1	ORPHA:64280
HP:0010936	Abnormality of the lower urinary tract	8912	CACNA1H	ORPHA:64280
HP:0010936	Abnormality of the lower urinary tract	8629	JRK	ORPHA:64280
HP:0010936	Abnormality of the lower urinary tract	2566	GABRG2	ORPHA:64280
HP:0010936	Abnormality of the lower urinary tract	23394	ADNP	ORPHA:404448
HP:0010936	Abnormality of the lower urinary tract	340533	NEXMIF	OMIM:300912
HP:0010936	Abnormality of the lower urinary tract	23345	SYNE1	ORPHA:88644
HP:0010936	Abnormality of the lower urinary tract	23446	SLC44A1	OMIM:618868
HP:0010936	Abnormality of the lower urinary tract	22880	MORC2	OMIM:616688
HP:0010936	Abnormality of the lower urinary tract	22880	MORC2	ORPHA:466768
HP:0010936	Abnormality of the lower urinary tract	54832	VPS13C	OMIM:616840
HP:0010936	Abnormality of the lower urinary tract	57704	GBA2	ORPHA:352641
HP:0010936	Abnormality of the lower urinary tract	57704	GBA2	ORPHA:320391
HP:0010936	Abnormality of the lower urinary tract	57704	GBA2	OMIM:614409
HP:0010936	Abnormality of the lower urinary tract	1786	DNMT1	ORPHA:314404
HP:0010936	Abnormality of the lower urinary tract	4803	NGF	OMIM:608654
HP:0010936	Abnormality of the lower urinary tract	84320	ACBD6	OMIM:620785
HP:0010936	Abnormality of the lower urinary tract	6347	CCL2	OMIM:182940
HP:0010936	Abnormality of the lower urinary tract	80199	FUZ	OMIM:182940
HP:0010936	Abnormality of the lower urinary tract	6862	TBXT	OMIM:182940
HP:0010936	Abnormality of the lower urinary tract	57216	VANGL2	OMIM:182940
HP:0010936	Abnormality of the lower urinary tract	274	BIN1	ORPHA:169189
HP:0010936	Abnormality of the lower urinary tract	64419	MTMR14	ORPHA:169189
HP:0010936	Abnormality of the lower urinary tract	4618	MYF6	ORPHA:169189
HP:0010936	Abnormality of the lower urinary tract	1785	DNM2	ORPHA:169189
HP:0010936	Abnormality of the lower urinary tract	6261	RYR1	ORPHA:169189
HP:0010936	Abnormality of the lower urinary tract	5660	PSAP	OMIM:249900
HP:0010936	Abnormality of the lower urinary tract	5660	PSAP	ORPHA:309271
HP:0010936	Abnormality of the lower urinary tract	5660	PSAP	ORPHA:309263
HP:0010936	Abnormality of the lower urinary tract	5660	PSAP	ORPHA:309256
HP:0010936	Abnormality of the lower urinary tract	3074	HEXB	ORPHA:309162
HP:0010936	Abnormality of the lower urinary tract	3074	HEXB	OMIM:268800
HP:0010936	Abnormality of the lower urinary tract	10479	SLC9A6	OMIM:300243
HP:0010936	Abnormality of the lower urinary tract	81790	RNF170	OMIM:619686
HP:0010936	Abnormality of the lower urinary tract	6335	SCN9A	OMIM:243000
HP:0010936	Abnormality of the lower urinary tract	8878	SQSTM1	OMIM:617145
HP:0010936	Abnormality of the lower urinary tract	5610	EIF2AK2	OMIM:618877
HP:0010936	Abnormality of the lower urinary tract	128486	FITM2	OMIM:618635
HP:0010936	Abnormality of the lower urinary tract	2581	GALC	ORPHA:206448
HP:0010936	Abnormality of the lower urinary tract	3508	IGHMBP2	OMIM:604320
HP:0010936	Abnormality of the lower urinary tract	100996717	NOTCH2NLC	OMIM:603472
HP:0010936	Abnormality of the lower urinary tract	90161	HS6ST2	OMIM:301025
HP:0010936	Abnormality of the lower urinary tract	410	ARSA	ORPHA:309271
HP:0010936	Abnormality of the lower urinary tract	410	ARSA	ORPHA:309263
HP:0010936	Abnormality of the lower urinary tract	410	ARSA	ORPHA:309256
HP:0010936	Abnormality of the lower urinary tract	410	ARSA	OMIM:250100
HP:0010936	Abnormality of the lower urinary tract	2590	GALNT2	OMIM:618885
HP:0010936	Abnormality of the lower urinary tract	51319	RSRC1	OMIM:618402
HP:0010936	Abnormality of the lower urinary tract	54463	RETREG1	OMIM:613115
HP:0010936	Abnormality of the lower urinary tract	6575	SLC20A2	OMIM:213600
HP:0010936	Abnormality of the lower urinary tract	5159	PDGFRB	OMIM:213600
HP:0010936	Abnormality of the lower urinary tract	5155	PDGFB	OMIM:213600
HP:0010936	Abnormality of the lower urinary tract	5155	PDGFB	ORPHA:2495
HP:0010936	Abnormality of the lower urinary tract	549	AUH	OMIM:250950
HP:0010936	Abnormality of the lower urinary tract	7276	TTR	OMIM:105210
HP:0010936	Abnormality of the lower urinary tract	10273	STUB1	OMIM:618093
HP:0010936	Abnormality of the lower urinary tract	1137	CHRNA4	ORPHA:98784
HP:0010936	Abnormality of the lower urinary tract	1135	CHRNA2	ORPHA:98784
HP:0010936	Abnormality of the lower urinary tract	57010	CABP4	ORPHA:98784
HP:0010936	Abnormality of the lower urinary tract	1141	CHRNB2	ORPHA:98784
HP:0010936	Abnormality of the lower urinary tract	57582	KCNT1	ORPHA:98784
HP:0010936	Abnormality of the lower urinary tract	1392	CRH	ORPHA:98784
HP:0010936	Abnormality of the lower urinary tract	9681	DEPDC5	ORPHA:98784
HP:0010936	Abnormality of the lower urinary tract	57531	HACE1	ORPHA:464282
HP:0010936	Abnormality of the lower urinary tract	9420	CYP7B1	OMIM:270800
HP:0010936	Abnormality of the lower urinary tract	9839	ZEB2	ORPHA:261552
HP:0010936	Abnormality of the lower urinary tract	9839	ZEB2	ORPHA:261537
HP:0010936	Abnormality of the lower urinary tract	2332	FMR1	OMIM:300623
HP:0010936	Abnormality of the lower urinary tract	9907	AP5Z1	OMIM:613647
HP:0010936	Abnormality of the lower urinary tract	9907	AP5Z1	ORPHA:306511
HP:0010936	Abnormality of the lower urinary tract	4747	NEFL	ORPHA:101085
HP:0010936	Abnormality of the lower urinary tract	28982	FLVCR1	OMIM:609033
HP:0010936	Abnormality of the lower urinary tract	3752	KCND3	ORPHA:98772
HP:0010936	Abnormality of the lower urinary tract	2261	FGFR3	OMIM:616482
HP:0010936	Abnormality of the lower urinary tract	56978	PRDM8	OMIM:616640
HP:0010936	Abnormality of the lower urinary tract	23259	DDHD2	OMIM:615033
HP:0010936	Abnormality of the lower urinary tract	2548	GAA	OMIM:232300
HP:0010936	Abnormality of the lower urinary tract	92609	TIMM50	OMIM:617698
HP:0010936	Abnormality of the lower urinary tract	92609	TIMM50	ORPHA:505216
HP:0010936	Abnormality of the lower urinary tract	8314	BAP1	ORPHA:2495
HP:0010936	Abnormality of the lower urinary tract	4771	NF2	ORPHA:2495
HP:0010936	Abnormality of the lower urinary tract	6598	SMARCB1	ORPHA:2495
HP:0010936	Abnormality of the lower urinary tract	84231	TRAF7	ORPHA:2495
HP:0010936	Abnormality of the lower urinary tract	6608	SMO	ORPHA:2495
HP:0010936	Abnormality of the lower urinary tract	207	AKT1	ORPHA:2495
HP:0010936	Abnormality of the lower urinary tract	5290	PIK3CA	ORPHA:2495
HP:0010936	Abnormality of the lower urinary tract	51684	SUFU	ORPHA:2495
HP:0010936	Abnormality of the lower urinary tract	6605	SMARCE1	ORPHA:2495
HP:0010936	Abnormality of the lower urinary tract	80025	PANK2	OMIM:234200
HP:0010936	Abnormality of the lower urinary tract	724066	ATXN8	ORPHA:98760
HP:0010936	Abnormality of the lower urinary tract	51611	DPH5	OMIM:620070
HP:0010936	Abnormality of the lower urinary tract	283446	MYO1H	OMIM:619482
HP:0010936	Abnormality of the lower urinary tract	2521	FUS	ORPHA:300605
HP:0010936	Abnormality of the lower urinary tract	10280	SIGMAR1	ORPHA:300605
HP:0010936	Abnormality of the lower urinary tract	10558	SPTLC1	ORPHA:300605
HP:0010936	Abnormality of the lower urinary tract	6305	SBF1	OMIM:615284
HP:0010936	Abnormality of the lower urinary tract	7750	ZMYM2	OMIM:619522
HP:0010936	Abnormality of the lower urinary tract	7204	TRIO	ORPHA:476126
HP:0010936	Abnormality of the lower urinary tract	25978	CHMP2B	OMIM:600795
HP:0010936	Abnormality of the lower urinary tract	339855	KY	OMIM:617114
HP:0010936	Abnormality of the lower urinary tract	1315	COPB1	OMIM:619255
HP:0010936	Abnormality of the lower urinary tract	7415	VCP	ORPHA:329478
HP:0010936	Abnormality of the lower urinary tract	22943	DKK1	ORPHA:268882
HP:0010936	Abnormality of the lower urinary tract	2678	GGT1	OMIM:231950
HP:0010936	Abnormality of the lower urinary tract	25913	POT1	OMIM:620368
HP:0010936	Abnormality of the lower urinary tract	8799	PEX11B	OMIM:614920
HP:0010936	Abnormality of the lower urinary tract	9757	KMT2B	OMIM:619934
HP:0010936	Abnormality of the lower urinary tract	6509	SLC1A4	ORPHA:447997
HP:0010936	Abnormality of the lower urinary tract	84978	FRMD5	OMIM:620094
HP:0010936	Abnormality of the lower urinary tract	5654	HTRA1	OMIM:600142
HP:0010936	Abnormality of the lower urinary tract	80217	CFAP43	OMIM:236690
HP:0010936	Abnormality of the lower urinary tract	7305	TYROBP	OMIM:221770
HP:0010936	Abnormality of the lower urinary tract	170302	ARX	OMIM:300419
HP:0010936	Abnormality of the lower urinary tract	57165	GJC2	OMIM:613206
HP:0010936	Abnormality of the lower urinary tract	55081	IFT57	OMIM:617927
HP:0010936	Abnormality of the lower urinary tract	4629	MYH11	OMIM:619350
HP:0010936	Abnormality of the lower urinary tract	4629	MYH11	OMIM:619351
HP:0010936	Abnormality of the lower urinary tract	4629	MYH11	ORPHA:2241
HP:0010936	Abnormality of the lower urinary tract	10398	MYL9	OMIM:619365
HP:0010936	Abnormality of the lower urinary tract	25802	LMOD1	ORPHA:2241
HP:0010936	Abnormality of the lower urinary tract	4638	MYLK	ORPHA:2241
HP:0010936	Abnormality of the lower urinary tract	5566	PRKACA	ORPHA:289
HP:0010936	Abnormality of the lower urinary tract	5567	PRKACB	ORPHA:289
HP:0010936	Abnormality of the lower urinary tract	2735	GLI1	ORPHA:289
HP:0010936	Abnormality of the lower urinary tract	2121	EVC	ORPHA:289
HP:0010936	Abnormality of the lower urinary tract	2121	EVC	OMIM:225500
HP:0010936	Abnormality of the lower urinary tract	51626	DYNC2LI1	ORPHA:289
HP:0010936	Abnormality of the lower urinary tract	132884	EVC2	ORPHA:289
HP:0010936	Abnormality of the lower urinary tract	132884	EVC2	OMIM:225500
HP:0010936	Abnormality of the lower urinary tract	29123	ANKRD11	OMIM:148050
HP:0010936	Abnormality of the lower urinary tract	26005	C2CD3	ORPHA:434179
HP:0010936	Abnormality of the lower urinary tract	26005	C2CD3	OMIM:615948
HP:0010936	Abnormality of the lower urinary tract	7474	WNT5A	ORPHA:3107
HP:0010936	Abnormality of the lower urinary tract	1855	DVL1	ORPHA:3107
HP:0010936	Abnormality of the lower urinary tract	2535	FZD2	ORPHA:3107
HP:0010936	Abnormality of the lower urinary tract	9791	PTDSS1	ORPHA:2658
HP:0010936	Abnormality of the lower urinary tract	63895	PIEZO2	ORPHA:2461
HP:0010936	Abnormality of the lower urinary tract	81620	CDT1	ORPHA:2554
HP:0010936	Abnormality of the lower urinary tract	5000	ORC4	ORPHA:2554
HP:0010936	Abnormality of the lower urinary tract	23594	ORC6	ORPHA:2554
HP:0010936	Abnormality of the lower urinary tract	990	CDC6	ORPHA:2554
HP:0010936	Abnormality of the lower urinary tract	4998	ORC1	ORPHA:2554
HP:0010936	Abnormality of the lower urinary tract	51053	GMNN	ORPHA:2554
HP:0010936	Abnormality of the lower urinary tract	4089	SMAD4	ORPHA:2588
HP:0010936	Abnormality of the lower urinary tract	54539	NDUFB11	ORPHA:2556
HP:0010936	Abnormality of the lower urinary tract	1349	COX7B	ORPHA:2556
HP:0010936	Abnormality of the lower urinary tract	3052	HCCS	ORPHA:2556
HP:0010936	Abnormality of the lower urinary tract	26235	FBXL4	OMIM:615471
HP:0010936	Abnormality of the lower urinary tract	1947	EFNB1	ORPHA:1520
HP:0010936	Abnormality of the lower urinary tract	1947	EFNB1	OMIM:304110
HP:0010936	Abnormality of the lower urinary tract	4204	MECP2	ORPHA:1762
HP:0010936	Abnormality of the lower urinary tract	4204	MECP2	OMIM:300260
HP:0010936	Abnormality of the lower urinary tract	6938	TCF12	OMIM:619718
HP:0010936	Abnormality of the lower urinary tract	9820	CUL7	ORPHA:2616
HP:0010936	Abnormality of the lower urinary tract	9820	CUL7	OMIM:273750
HP:0010936	Abnormality of the lower urinary tract	23363	OBSL1	ORPHA:2616
HP:0010936	Abnormality of the lower urinary tract	83987	CCDC8	ORPHA:2616
HP:0010936	Abnormality of the lower urinary tract	81857	MED25	OMIM:616449
HP:0010936	Abnormality of the lower urinary tract	81857	MED25	ORPHA:464738
HP:0010936	Abnormality of the lower urinary tract	9786	KIAA0586	ORPHA:397715
HP:0010936	Abnormality of the lower urinary tract	5932	RBBP8	OMIM:606744
HP:0010936	Abnormality of the lower urinary tract	116931	MED12L	OMIM:618872
HP:0010936	Abnormality of the lower urinary tract	9578	CDC42BPB	OMIM:619841
HP:0010936	Abnormality of the lower urinary tract	1528	CYB5A	ORPHA:90796
HP:0010936	Abnormality of the lower urinary tract	1528	CYB5A	OMIM:250790
HP:0010936	Abnormality of the lower urinary tract	1586	CYP17A1	ORPHA:90796
HP:0010936	Abnormality of the lower urinary tract	1586	CYP17A1	ORPHA:90793
HP:0010936	Abnormality of the lower urinary tract	8239	USP9X	OMIM:300919
HP:0010936	Abnormality of the lower urinary tract	4149	MAX	OMIM:620712
HP:0010936	Abnormality of the lower urinary tract	3284	HSD3B2	ORPHA:90791
HP:0010936	Abnormality of the lower urinary tract	3284	HSD3B2	OMIM:201810
HP:0010936	Abnormality of the lower urinary tract	5189	PEX1	OMIM:214100
HP:0010936	Abnormality of the lower urinary tract	5189	PEX1	ORPHA:912
HP:0010936	Abnormality of the lower urinary tract	9698	PUM1	OMIM:620719
HP:0010936	Abnormality of the lower urinary tract	4853	NOTCH2	OMIM:102500
HP:0010936	Abnormality of the lower urinary tract	4853	NOTCH2	ORPHA:955
HP:0010936	Abnormality of the lower urinary tract	7020	TFAP2A	OMIM:113620
HP:0010936	Abnormality of the lower urinary tract	23347	SMCHD1	OMIM:603457
HP:0010936	Abnormality of the lower urinary tract	10815	CPLX1	ORPHA:280
HP:0010936	Abnormality of the lower urinary tract	10815	CPLX1	OMIM:194190
HP:0010936	Abnormality of the lower urinary tract	54872	PIGG	ORPHA:280
HP:0010936	Abnormality of the lower urinary tract	7469	NELFA	ORPHA:280
HP:0010936	Abnormality of the lower urinary tract	1487	CTBP1	ORPHA:280
HP:0010936	Abnormality of the lower urinary tract	1487	CTBP1	OMIM:194190
HP:0010936	Abnormality of the lower urinary tract	3954	LETM1	ORPHA:280
HP:0010936	Abnormality of the lower urinary tract	3954	LETM1	OMIM:194190
HP:0010936	Abnormality of the lower urinary tract	7468	NSD2	ORPHA:280
HP:0010936	Abnormality of the lower urinary tract	7468	NSD2	OMIM:194190
HP:0010936	Abnormality of the lower urinary tract	54968	TMEM70	OMIM:614052
HP:0010936	Abnormality of the lower urinary tract	54968	TMEM70	ORPHA:1194
HP:0010936	Abnormality of the lower urinary tract	833	CARS1	OMIM:618891
HP:0010936	Abnormality of the lower urinary tract	11193	WBP4	OMIM:620852
HP:0010936	Abnormality of the lower urinary tract	8642	DCHS1	OMIM:601390
HP:0010936	Abnormality of the lower urinary tract	8642	DCHS1	ORPHA:314679
HP:0010936	Abnormality of the lower urinary tract	26040	SETBP1	OMIM:269150
HP:0010936	Abnormality of the lower urinary tract	26040	SETBP1	ORPHA:798
HP:0010936	Abnormality of the lower urinary tract	3981	LIG4	ORPHA:235
HP:0010936	Abnormality of the lower urinary tract	54888	NSUN2	ORPHA:235
HP:0010936	Abnormality of the lower urinary tract	54880	BCOR	OMIM:309800
HP:0010936	Abnormality of the lower urinary tract	54880	BCOR	ORPHA:568
HP:0010936	Abnormality of the lower urinary tract	54880	BCOR	OMIM:300166
HP:0010936	Abnormality of the lower urinary tract	8260	NAA10	OMIM:309800
HP:0010936	Abnormality of the lower urinary tract	8260	NAA10	ORPHA:568
HP:0010936	Abnormality of the lower urinary tract	54914	FOCAD	OMIM:619991
HP:0010936	Abnormality of the lower urinary tract	8363	H4C11	OMIM:619759
HP:0010936	Abnormality of the lower urinary tract	5590	PRKCZ	ORPHA:1606
HP:0010936	Abnormality of the lower urinary tract	2563	GABRD	ORPHA:1606
HP:0010936	Abnormality of the lower urinary tract	23013	SPEN	ORPHA:1606
HP:0010936	Abnormality of the lower urinary tract	8510	MMP23B	ORPHA:1606
HP:0010936	Abnormality of the lower urinary tract	7798	LUZP1	ORPHA:1606
HP:0010936	Abnormality of the lower urinary tract	6497	SKI	ORPHA:1606
HP:0010936	Abnormality of the lower urinary tract	10630	PDPN	ORPHA:1606
HP:0010936	Abnormality of the lower urinary tract	3339	HSPG2	ORPHA:1606
HP:0010936	Abnormality of the lower urinary tract	10277	UBE4B	ORPHA:1606
HP:0010936	Abnormality of the lower urinary tract	8514	KCNAB2	ORPHA:1606
HP:0010936	Abnormality of the lower urinary tract	63976	PRDM16	ORPHA:1606
HP:0010936	Abnormality of the lower urinary tract	54897	CASZ1	ORPHA:1606
HP:0010936	Abnormality of the lower urinary tract	6134	RPL10	ORPHA:459070
HP:0010936	Abnormality of the lower urinary tract	6134	RPL10	OMIM:300998
HP:0010936	Abnormality of the lower urinary tract	6134	RPL10	ORPHA:435938
HP:0010936	Abnormality of the lower urinary tract	1859	DYRK1A	ORPHA:464311
HP:0010936	Abnormality of the lower urinary tract	1859	DYRK1A	ORPHA:268261
HP:0010936	Abnormality of the lower urinary tract	9772	TMEM94	OMIM:618316
HP:0010936	Abnormality of the lower urinary tract	79633	FAT4	ORPHA:314679
HP:0010936	Abnormality of the lower urinary tract	79633	FAT4	OMIM:615546
HP:0010936	Abnormality of the lower urinary tract	2239	GPC4	ORPHA:373
HP:0010936	Abnormality of the lower urinary tract	2239	GPC4	OMIM:312870
HP:0010936	Abnormality of the lower urinary tract	2719	GPC3	ORPHA:373
HP:0010936	Abnormality of the lower urinary tract	2719	GPC3	ORPHA:654
HP:0010936	Abnormality of the lower urinary tract	2719	GPC3	OMIM:312870
HP:0010936	Abnormality of the lower urinary tract	2260	FGFR1	OMIM:166250
HP:0010936	Abnormality of the lower urinary tract	2260	FGFR1	OMIM:615465
HP:0010936	Abnormality of the lower urinary tract	9725	TMEM63A	OMIM:618688
HP:0010936	Abnormality of the lower urinary tract	7476	WNT7A	OMIM:276820
HP:0010936	Abnormality of the lower urinary tract	54361	WNT4	OMIM:611812
HP:0010936	Abnormality of the lower urinary tract	54361	WNT4	ORPHA:139466
HP:0010936	Abnormality of the lower urinary tract	79087	ALG12	ORPHA:79324
HP:0010936	Abnormality of the lower urinary tract	79087	ALG12	OMIM:607143
HP:0010936	Abnormality of the lower urinary tract	9896	FIG4	OMIM:216340
HP:0010936	Abnormality of the lower urinary tract	9896	FIG4	ORPHA:3472
HP:0010936	Abnormality of the lower urinary tract	6138	RPL15	ORPHA:124
HP:0010936	Abnormality of the lower urinary tract	6224	RPS20	ORPHA:124
HP:0010936	Abnormality of the lower urinary tract	6165	RPL35A	ORPHA:124
HP:0010936	Abnormality of the lower urinary tract	6165	RPL35A	OMIM:612528
HP:0010936	Abnormality of the lower urinary tract	6132	RPL8	ORPHA:124
HP:0010936	Abnormality of the lower urinary tract	6223	RPS19	ORPHA:124
HP:0010936	Abnormality of the lower urinary tract	6232	RPS27	ORPHA:124
HP:0010936	Abnormality of the lower urinary tract	55027	HEATR3	ORPHA:124
HP:0010936	Abnormality of the lower urinary tract	6160	RPL31	ORPHA:124
HP:0010936	Abnormality of the lower urinary tract	6201	RPS7	ORPHA:124
HP:0010936	Abnormality of the lower urinary tract	6155	RPL27	ORPHA:124
HP:0010936	Abnormality of the lower urinary tract	6234	RPS28	ORPHA:124
HP:0010936	Abnormality of the lower urinary tract	6229	RPS24	ORPHA:124
HP:0010936	Abnormality of the lower urinary tract	6125	RPL5	ORPHA:124
HP:0010936	Abnormality of the lower urinary tract	6204	RPS10	ORPHA:124
HP:0010936	Abnormality of the lower urinary tract	2623	GATA1	ORPHA:124
HP:0010936	Abnormality of the lower urinary tract	6133	RPL9	ORPHA:124
HP:0010936	Abnormality of the lower urinary tract	6231	RPS26	ORPHA:124
HP:0010936	Abnormality of the lower urinary tract	11224	RPL35	ORPHA:124
HP:0010936	Abnormality of the lower urinary tract	6218	RPS17	ORPHA:124
HP:0010936	Abnormality of the lower urinary tract	6154	RPL26	ORPHA:124
HP:0010936	Abnormality of the lower urinary tract	6210	RPS15A	ORPHA:124
HP:0010936	Abnormality of the lower urinary tract	90121	TSR2	ORPHA:124
HP:0010936	Abnormality of the lower urinary tract	6141	RPL18	ORPHA:124
HP:0010936	Abnormality of the lower urinary tract	6235	RPS29	ORPHA:124
HP:0010936	Abnormality of the lower urinary tract	51816	ADA2	ORPHA:124
HP:0010936	Abnormality of the lower urinary tract	1523	CUX1	OMIM:618330
HP:0010936	Abnormality of the lower urinary tract	5426	POLE	OMIM:618336
HP:0010936	Abnormality of the lower urinary tract	5426	POLE	ORPHA:85173
HP:0010936	Abnormality of the lower urinary tract	81603	TRIM8	OMIM:619428
HP:0010936	Abnormality of the lower urinary tract	6477	SIAH1	OMIM:619314
HP:0010936	Abnormality of the lower urinary tract	8473	OGT	OMIM:300997
HP:0010936	Abnormality of the lower urinary tract	10765	KDM5B	OMIM:618109
HP:0010936	Abnormality of the lower urinary tract	5308	PITX2	ORPHA:782
HP:0010936	Abnormality of the lower urinary tract	5308	PITX2	OMIM:180500
HP:0010936	Abnormality of the lower urinary tract	2296	FOXC1	ORPHA:782
HP:0010936	Abnormality of the lower urinary tract	374654	KIF7	ORPHA:36
HP:0010936	Abnormality of the lower urinary tract	374654	KIF7	OMIM:200990
HP:0010936	Abnormality of the lower urinary tract	29998	BICRA	OMIM:619325
HP:0010936	Abnormality of the lower urinary tract	5978	REST	ORPHA:654
HP:0010936	Abnormality of the lower urinary tract	129563	DIS3L2	ORPHA:654
HP:0010936	Abnormality of the lower urinary tract	675	BRCA2	ORPHA:654
HP:0010936	Abnormality of the lower urinary tract	675	BRCA2	ORPHA:84
HP:0010936	Abnormality of the lower urinary tract	9319	TRIP13	ORPHA:654
HP:0010936	Abnormality of the lower urinary tract	10155	TRIM28	ORPHA:654
HP:0010936	Abnormality of the lower urinary tract	11281	POU6F2	ORPHA:654
HP:0010936	Abnormality of the lower urinary tract	283120	H19	ORPHA:654
HP:0010936	Abnormality of the lower urinary tract	3039	HBA1	ORPHA:98791
HP:0010936	Abnormality of the lower urinary tract	3040	HBA2	ORPHA:98791
HP:0010936	Abnormality of the lower urinary tract	4621	MYH3	OMIM:193700
HP:0010936	Abnormality of the lower urinary tract	4703	NEB	OMIM:619334
HP:0010936	Abnormality of the lower urinary tract	4703	NEB	ORPHA:171430
HP:0010936	Abnormality of the lower urinary tract	51132	RLIM	OMIM:300978
HP:0010936	Abnormality of the lower urinary tract	6928	HNF1B	OMIM:137920
HP:0010936	Abnormality of the lower urinary tract	6928	HNF1B	ORPHA:93111
HP:0010936	Abnormality of the lower urinary tract	50945	TBX22	OMIM:302905
HP:0010936	Abnormality of the lower urinary tract	50945	TBX22	ORPHA:921
HP:0010936	Abnormality of the lower urinary tract	284654	RSPO1	OMIM:610644
HP:0010936	Abnormality of the lower urinary tract	25942	SIN3A	ORPHA:94065
HP:0010936	Abnormality of the lower urinary tract	25942	SIN3A	OMIM:613406
HP:0010936	Abnormality of the lower urinary tract	23522	KAT6B	OMIM:603736
HP:0010936	Abnormality of the lower urinary tract	7317	UBA1	OMIM:301830
HP:0010936	Abnormality of the lower urinary tract	8802	SUCLG1	ORPHA:17
HP:0010936	Abnormality of the lower urinary tract	4700	NDUFA6	OMIM:618253
HP:0010936	Abnormality of the lower urinary tract	5144	PDE4D	ORPHA:439822
HP:0010936	Abnormality of the lower urinary tract	5144	PDE4D	OMIM:614613
HP:0010936	Abnormality of the lower urinary tract	2475	MTOR	ORPHA:457485
HP:0010936	Abnormality of the lower urinary tract	4990	SIX6	OMIM:206900
HP:0010936	Abnormality of the lower urinary tract	6657	SOX2	OMIM:206900
HP:0010936	Abnormality of the lower urinary tract	6657	SOX2	ORPHA:77298
HP:0010936	Abnormality of the lower urinary tract	91039	DPP9	OMIM:620331
HP:0010936	Abnormality of the lower urinary tract	6611	SMS	ORPHA:3063
HP:0010936	Abnormality of the lower urinary tract	54809	SAMD9	OMIM:617053
HP:0010936	Abnormality of the lower urinary tract	9851	KIAA0753	OMIM:619479
HP:0010936	Abnormality of the lower urinary tract	145173	B3GLCT	OMIM:261540
HP:0010936	Abnormality of the lower urinary tract	145173	B3GLCT	ORPHA:709
HP:0010936	Abnormality of the lower urinary tract	6711	SPTBN1	OMIM:619475
HP:0010936	Abnormality of the lower urinary tract	5781	PTPN11	ORPHA:500
HP:0010936	Abnormality of the lower urinary tract	5781	PTPN11	OMIM:151100
HP:0010936	Abnormality of the lower urinary tract	5781	PTPN11	OMIM:163950
HP:0010936	Abnormality of the lower urinary tract	673	BRAF	ORPHA:500
HP:0010936	Abnormality of the lower urinary tract	673	BRAF	OMIM:163950
HP:0010936	Abnormality of the lower urinary tract	5894	RAF1	ORPHA:500
HP:0010936	Abnormality of the lower urinary tract	2887	GRB10	ORPHA:96182
HP:0010936	Abnormality of the lower urinary tract	2222	FDFT1	OMIM:618156
HP:0010936	Abnormality of the lower urinary tract	374879	ZNF699	OMIM:619488
HP:0010936	Abnormality of the lower urinary tract	10084	PQBP1	OMIM:309500
HP:0010936	Abnormality of the lower urinary tract	4081	MAB21L1	ORPHA:495875
HP:0010936	Abnormality of the lower urinary tract	6748	SSR4	OMIM:300934
HP:0010936	Abnormality of the lower urinary tract	219844	HYLS1	OMIM:236680
HP:0010936	Abnormality of the lower urinary tract	28952	CCDC22	ORPHA:7
HP:0010936	Abnormality of the lower urinary tract	57020	VPS35L	ORPHA:7
HP:0010936	Abnormality of the lower urinary tract	56896	DPYSL5	ORPHA:7
HP:0010936	Abnormality of the lower urinary tract	55181	SMG8	OMIM:619268
HP:0010936	Abnormality of the lower urinary tract	4713	NDUFB7	OMIM:620135
HP:0010936	Abnormality of the lower urinary tract	4702	NDUFA8	OMIM:619272
HP:0010936	Abnormality of the lower urinary tract	10128	LRPPRC	OMIM:220111
HP:0010936	Abnormality of the lower urinary tract	8450	CUL4B	OMIM:300354
HP:0010936	Abnormality of the lower urinary tract	6770	STAR	OMIM:201710
HP:0010936	Abnormality of the lower urinary tract	58	ACTA1	ORPHA:171430
HP:0010936	Abnormality of the lower urinary tract	131377	KLHL40	ORPHA:171430
HP:0010936	Abnormality of the lower urinary tract	10324	KLHL41	ORPHA:171430
HP:0010936	Abnormality of the lower urinary tract	56203	LMOD3	ORPHA:171430
HP:0010936	Abnormality of the lower urinary tract	22858	CILK1	OMIM:612651
HP:0010936	Abnormality of the lower urinary tract	10847	SRCAP	ORPHA:2044
HP:0010936	Abnormality of the lower urinary tract	10847	SRCAP	OMIM:136140
HP:0010936	Abnormality of the lower urinary tract	1717	DHCR7	ORPHA:818
HP:0010936	Abnormality of the lower urinary tract	1717	DHCR7	OMIM:270400
HP:0010936	Abnormality of the lower urinary tract	55780	ERMARD	ORPHA:75857
HP:0010936	Abnormality of the lower urinary tract	9382	COG1	OMIM:611209
HP:0010936	Abnormality of the lower urinary tract	1146	CHRNG	OMIM:265000
HP:0010936	Abnormality of the lower urinary tract	57492	ARID1B	OMIM:135900
HP:0010936	Abnormality of the lower urinary tract	57492	ARID1B	ORPHA:1465
HP:0010936	Abnormality of the lower urinary tract	672	BRCA1	ORPHA:84
HP:0010936	Abnormality of the lower urinary tract	10459	MAD2L2	ORPHA:84
HP:0010936	Abnormality of the lower urinary tract	7516	XRCC2	ORPHA:84
HP:0010936	Abnormality of the lower urinary tract	29089	UBE2T	ORPHA:84
HP:0010936	Abnormality of the lower urinary tract	55120	FANCL	ORPHA:84
HP:0010936	Abnormality of the lower urinary tract	2177	FANCD2	ORPHA:84
HP:0010936	Abnormality of the lower urinary tract	2175	FANCA	ORPHA:84
HP:0010936	Abnormality of the lower urinary tract	2176	FANCC	ORPHA:84
HP:0010936	Abnormality of the lower urinary tract	2178	FANCE	ORPHA:84
HP:0010936	Abnormality of the lower urinary tract	2189	FANCG	ORPHA:84
HP:0010936	Abnormality of the lower urinary tract	5888	RAD51	ORPHA:84
HP:0010936	Abnormality of the lower urinary tract	5889	RAD51C	ORPHA:84
HP:0010936	Abnormality of the lower urinary tract	55159	RFWD3	ORPHA:84
HP:0010936	Abnormality of the lower urinary tract	83990	BRIP1	ORPHA:84
HP:0010936	Abnormality of the lower urinary tract	57697	FANCM	ORPHA:84
HP:0010936	Abnormality of the lower urinary tract	79728	PALB2	ORPHA:84
HP:0010936	Abnormality of the lower urinary tract	84464	SLX4	ORPHA:84
HP:0010936	Abnormality of the lower urinary tract	2072	ERCC4	ORPHA:84
HP:0010936	Abnormality of the lower urinary tract	222663	SCUBE3	OMIM:619184
HP:0010936	Abnormality of the lower urinary tract	55697	VAC14	ORPHA:3472
HP:0010936	Abnormality of the lower urinary tract	83879	CDCA7	OMIM:616910
HP:0010936	Abnormality of the lower urinary tract	53834	FGFRL1	OMIM:194190
HP:0010936	Abnormality of the lower urinary tract	5828	PEX2	OMIM:614866
HP:0010936	Abnormality of the lower urinary tract	5828	PEX2	ORPHA:912
HP:0010936	Abnormality of the lower urinary tract	79228	THOC6	ORPHA:363444
HP:0010936	Abnormality of the lower urinary tract	57459	GATAD2B	ORPHA:363686
HP:0010936	Abnormality of the lower urinary tract	78989	COLEC11	OMIM:265050
HP:0010936	Abnormality of the lower urinary tract	5324	PLAG1	ORPHA:397590
HP:0010936	Abnormality of the lower urinary tract	8091	HMGA2	ORPHA:397590
HP:0010936	Abnormality of the lower urinary tract	3187	HNRNPH1	OMIM:620083
HP:0010936	Abnormality of the lower urinary tract	4920	ROR2	OMIM:268310
HP:0010936	Abnormality of the lower urinary tract	9652	SKIC3	OMIM:222470
HP:0010936	Abnormality of the lower urinary tract	10661	KLF1	OMIM:613673
HP:0010936	Abnormality of the lower urinary tract	701	BUB1B	OMIM:257300
HP:0010936	Abnormality of the lower urinary tract	157570	ESCO2	OMIM:268300
HP:0010936	Abnormality of the lower urinary tract	157570	ESCO2	ORPHA:2319
HP:0010936	Abnormality of the lower urinary tract	5631	PRPS1	OMIM:300661
HP:0010936	Abnormality of the lower urinary tract	55670	PEX26	ORPHA:912
HP:0010936	Abnormality of the lower urinary tract	5824	PEX19	ORPHA:912
HP:0010936	Abnormality of the lower urinary tract	9409	PEX16	ORPHA:912
HP:0010936	Abnormality of the lower urinary tract	5190	PEX6	ORPHA:912
HP:0010936	Abnormality of the lower urinary tract	5830	PEX5	ORPHA:912
HP:0010936	Abnormality of the lower urinary tract	5193	PEX12	ORPHA:912
HP:0010936	Abnormality of the lower urinary tract	5194	PEX13	ORPHA:912
HP:0010936	Abnormality of the lower urinary tract	5195	PEX14	ORPHA:912
HP:0010936	Abnormality of the lower urinary tract	5192	PEX10	ORPHA:912
HP:0010936	Abnormality of the lower urinary tract	10075	HUWE1	OMIM:309590
HP:0010936	Abnormality of the lower urinary tract	10159	ATP6AP2	OMIM:301045
HP:0010936	Abnormality of the lower urinary tract	2245	FGD1	OMIM:305400
HP:0010936	Abnormality of the lower urinary tract	10586	MAB21L2	OMIM:615877
HP:0010936	Abnormality of the lower urinary tract	113179	ADAT3	ORPHA:363528
HP:0010936	Abnormality of the lower urinary tract	55209	SETD5	OMIM:615761
HP:0010936	Abnormality of the lower urinary tract	131118	DNAJC19	OMIM:610198
HP:0010936	Abnormality of the lower urinary tract	55784	MCTP2	ORPHA:1596
HP:0010936	Abnormality of the lower urinary tract	998	CDC42	OMIM:616737
HP:0010936	Abnormality of the lower urinary tract	998	CDC42	ORPHA:487796
HP:0010936	Abnormality of the lower urinary tract	10982	MAPRE2	OMIM:616734
HP:0010936	Abnormality of the lower urinary tract	10982	MAPRE2	ORPHA:2505
HP:0010936	Abnormality of the lower urinary tract	8831	SYNGAP1	ORPHA:544254
HP:0010936	Abnormality of the lower urinary tract	6597	SMARCA4	ORPHA:1465
HP:0010936	Abnormality of the lower urinary tract	6659	SOX4	ORPHA:1465
HP:0010936	Abnormality of the lower urinary tract	8289	ARID1A	ORPHA:1465
HP:0010936	Abnormality of the lower urinary tract	5977	DPF2	ORPHA:1465
HP:0010936	Abnormality of the lower urinary tract	6601	SMARCC2	ORPHA:1465
HP:0010936	Abnormality of the lower urinary tract	6602	SMARCD1	ORPHA:1465
HP:0010936	Abnormality of the lower urinary tract	196528	ARID2	ORPHA:1465
HP:0010936	Abnormality of the lower urinary tract	6664	SOX11	ORPHA:1465
HP:0010936	Abnormality of the lower urinary tract	134701	RIPPLY2	ORPHA:2311
HP:0010936	Abnormality of the lower urinary tract	10683	DLL3	ORPHA:2311
HP:0010936	Abnormality of the lower urinary tract	3955	LFNG	ORPHA:2311
HP:0010936	Abnormality of the lower urinary tract	145873	MESP2	ORPHA:2311
HP:0010936	Abnormality of the lower urinary tract	23028	KDM1A	ORPHA:477993
HP:0010936	Abnormality of the lower urinary tract	25	ABL1	OMIM:617602
HP:0010936	Abnormality of the lower urinary tract	545	ATR	OMIM:210600
HP:0010936	Abnormality of the lower urinary tract	5116	PCNT	OMIM:210720
HP:0010936	Abnormality of the lower urinary tract	5723	PSPH	ORPHA:79350
HP:0010936	Abnormality of the lower urinary tract	1589	CYP21A2	OMIM:201910
HP:0010936	Abnormality of the lower urinary tract	25914	RTTN	ORPHA:468631
HP:0010936	Abnormality of the lower urinary tract	4796	TONSL	ORPHA:93357
HP:0010936	Abnormality of the lower urinary tract	202018	TAPT1	OMIM:616897
HP:0010936	Abnormality of the lower urinary tract	4047	LSS	OMIM:618840
HP:0010936	Abnormality of the lower urinary tract	5879	RAC1	OMIM:617751
HP:0010936	Abnormality of the lower urinary tract	5879	RAC1	ORPHA:500159
HP:0010936	Abnormality of the lower urinary tract	51780	KDM3B	OMIM:618846
HP:0010936	Abnormality of the lower urinary tract	4724	NDUFS4	OMIM:252010
HP:0010936	Abnormality of the lower urinary tract	4000	LMNA	ORPHA:1662
HP:0010936	Abnormality of the lower urinary tract	10269	ZMPSTE24	ORPHA:1662
HP:0010936	Abnormality of the lower urinary tract	10269	ZMPSTE24	OMIM:275210
HP:0010936	Abnormality of the lower urinary tract	1468	SLC25A10	OMIM:618972
HP:0010936	Abnormality of the lower urinary tract	5699	PSMB10	OMIM:620807
HP:0010936	Abnormality of the lower urinary tract	7543	ZFX	OMIM:301118
HP:0010936	Abnormality of the lower urinary tract	203068	TUBB	ORPHA:2505
HP:0010936	Abnormality of the lower urinary tract	5604	MAP2K1	OMIM:163950
HP:0010936	Abnormality of the lower urinary tract	8626	TP63	ORPHA:1896
HP:0010936	Abnormality of the lower urinary tract	84314	TMEM107	ORPHA:564
HP:0010936	Abnormality of the lower urinary tract	26123	TCTN3	ORPHA:564
HP:0010936	Abnormality of the lower urinary tract	79867	TCTN2	ORPHA:564
HP:0010936	Abnormality of the lower urinary tract	80776	B9D2	ORPHA:564
HP:0010936	Abnormality of the lower urinary tract	79600	TCTN1	ORPHA:564
HP:0010936	Abnormality of the lower urinary tract	57096	RPGRIP1	ORPHA:564
HP:0010936	Abnormality of the lower urinary tract	79848	CSPP1	ORPHA:564
HP:0010936	Abnormality of the lower urinary tract	80184	CEP290	ORPHA:564
HP:0010936	Abnormality of the lower urinary tract	51259	TMEM216	ORPHA:564
HP:0010936	Abnormality of the lower urinary tract	57545	CC2D2A	ORPHA:564
HP:0010936	Abnormality of the lower urinary tract	79583	TMEM231	ORPHA:564
HP:0010936	Abnormality of the lower urinary tract	91147	TMEM67	ORPHA:564
HP:0010936	Abnormality of the lower urinary tract	79770	TXNDC15	ORPHA:564
HP:0010936	Abnormality of the lower urinary tract	27077	B9D1	ORPHA:564
HP:0010936	Abnormality of the lower urinary tract	23322	RPGRIP1L	ORPHA:564
HP:0010936	Abnormality of the lower urinary tract	54903	MKS1	ORPHA:564
HP:0010936	Abnormality of the lower urinary tract	65062	TMEM237	ORPHA:564
HP:0010936	Abnormality of the lower urinary tract	7547	ZIC3	OMIM:314390
HP:0010936	Abnormality of the lower urinary tract	2187	FANCB	OMIM:314390
HP:0010936	Abnormality of the lower urinary tract	341640	FREM2	ORPHA:2052
HP:0010936	Abnormality of the lower urinary tract	80144	FRAS1	ORPHA:2052
HP:0010936	Abnormality of the lower urinary tract	23426	GRIP1	ORPHA:2052
HP:0010936	Abnormality of the lower urinary tract	7473	WNT3	OMIM:273395
HP:0010936	Abnormality of the lower urinary tract	25970	SH2B1	ORPHA:261222
HP:0010936	Abnormality of the lower urinary tract	5076	PAX2	ORPHA:97362
HP:0010936	Abnormality of the lower urinary tract	5076	PAX2	ORPHA:1475
HP:0010936	Abnormality of the lower urinary tract	5076	PAX2	OMIM:120330
HP:0010936	Abnormality of the lower urinary tract	5087	PBX1	ORPHA:97362
HP:0010936	Abnormality of the lower urinary tract	5087	PBX1	OMIM:617641
HP:0010936	Abnormality of the lower urinary tract	10617	STAMBP	OMIM:614261
HP:0010936	Abnormality of the lower urinary tract	8294	H4C9	OMIM:619951
HP:0010936	Abnormality of the lower urinary tract	2138	EYA1	OMIM:113650
HP:0010936	Abnormality of the lower urinary tract	2138	EYA1	ORPHA:107
HP:0010936	Abnormality of the lower urinary tract	6495	SIX1	OMIM:113650
HP:0010936	Abnormality of the lower urinary tract	6495	SIX1	OMIM:605192
HP:0010936	Abnormality of the lower urinary tract	6495	SIX1	ORPHA:107
HP:0010936	Abnormality of the lower urinary tract	54892	NCAPG2	OMIM:618460
HP:0010936	Abnormality of the lower urinary tract	26128	KIFBP	OMIM:609460
HP:0010936	Abnormality of the lower urinary tract	23556	PIGN	ORPHA:2059
HP:0010936	Abnormality of the lower urinary tract	23556	PIGN	OMIM:614080
HP:0010936	Abnormality of the lower urinary tract	1788	DNMT3A	OMIM:615879
HP:0010936	Abnormality of the lower urinary tract	5361	PLXNA1	OMIM:619955
HP:0010936	Abnormality of the lower urinary tract	90459	ERI1	OMIM:620663
HP:0010936	Abnormality of the lower urinary tract	90459	ERI1	OMIM:620662
HP:0010936	Abnormality of the lower urinary tract	4774	NFIA	OMIM:613735
HP:0010936	Abnormality of the lower urinary tract	79813	EHMT1	ORPHA:96147
HP:0010936	Abnormality of the lower urinary tract	79813	EHMT1	ORPHA:261652
HP:0010936	Abnormality of the lower urinary tract	10992	SF3B2	OMIM:164210
HP:0010936	Abnormality of the lower urinary tract	85358	SHANK3	OMIM:606232
HP:0010936	Abnormality of the lower urinary tract	57167	SALL4	OMIM:607323
HP:0010936	Abnormality of the lower urinary tract	57167	SALL4	ORPHA:959
HP:0010936	Abnormality of the lower urinary tract	64324	NSD1	ORPHA:821
HP:0010936	Abnormality of the lower urinary tract	10297	APC2	ORPHA:821
HP:0010936	Abnormality of the lower urinary tract	5447	POR	ORPHA:95699
HP:0010936	Abnormality of the lower urinary tract	55593	OTUD5	OMIM:301056
HP:0010936	Abnormality of the lower urinary tract	3190	HNRNPK	ORPHA:453504
HP:0010936	Abnormality of the lower urinary tract	3190	HNRNPK	OMIM:616580
HP:0010936	Abnormality of the lower urinary tract	3190	HNRNPK	ORPHA:352665
HP:0010936	Abnormality of the lower urinary tract	27125	AFF4	ORPHA:444077
HP:0010936	Abnormality of the lower urinary tract	27125	AFF4	OMIM:616368
HP:0010936	Abnormality of the lower urinary tract	80114	BICC1	OMIM:601331
HP:0010936	Abnormality of the lower urinary tract	6299	SALL1	OMIM:107480
HP:0010936	Abnormality of the lower urinary tract	6299	SALL1	ORPHA:857
HP:0010936	Abnormality of the lower urinary tract	4281	MID1	OMIM:300000
HP:0010936	Abnormality of the lower urinary tract	4281	MID1	ORPHA:2745
HP:0010936	Abnormality of the lower urinary tract	23498	HAAO	OMIM:617660
HP:0010936	Abnormality of the lower urinary tract	1387	CREBBP	ORPHA:353281
HP:0010936	Abnormality of the lower urinary tract	1387	CREBBP	ORPHA:353277
HP:0010936	Abnormality of the lower urinary tract	51506	UFC1	OMIM:618076
HP:0010936	Abnormality of the lower urinary tract	473	RERE	OMIM:616975
HP:0010936	Abnormality of the lower urinary tract	473	RERE	ORPHA:494344
HP:0010936	Abnormality of the lower urinary tract	3313	HSPA9	OMIM:616854
HP:0010936	Abnormality of the lower urinary tract	55215	FANCI	OMIM:609053
HP:0010936	Abnormality of the lower urinary tract	2033	EP300	ORPHA:353284
HP:0010936	Abnormality of the lower urinary tract	6092	ROBO2	OMIM:610878
HP:0010936	Abnormality of the lower urinary tract	55636	CHD7	ORPHA:138
HP:0010936	Abnormality of the lower urinary tract	9723	SEMA3E	ORPHA:138
HP:0010936	Abnormality of the lower urinary tract	2188	FANCF	OMIM:603467
HP:0010936	Abnormality of the lower urinary tract	23005	MAPKBP1	OMIM:617271
HP:0010936	Abnormality of the lower urinary tract	2263	FGFR2	ORPHA:93260
HP:0010936	Abnormality of the lower urinary tract	2263	FGFR2	ORPHA:2363
HP:0010936	Abnormality of the lower urinary tract	51473	DCDC2	OMIM:617394
HP:0010936	Abnormality of the lower urinary tract	284058	KANSL1	ORPHA:363958
HP:0010936	Abnormality of the lower urinary tract	284058	KANSL1	ORPHA:363965
HP:0010936	Abnormality of the lower urinary tract	284058	KANSL1	OMIM:610443
HP:0010936	Abnormality of the lower urinary tract	9401	RECQL4	ORPHA:1225
HP:0010936	Abnormality of the lower urinary tract	10616	RBCK1	OMIM:615895
HP:0010936	Abnormality of the lower urinary tract	1108	CHD4	OMIM:617159
HP:0010936	Abnormality of the lower urinary tract	9675	TTI1	OMIM:620445
HP:0010936	Abnormality of the lower urinary tract	7080	NKX2-1	ORPHA:209905
HP:0010936	Abnormality of the lower urinary tract	1312	COMT	ORPHA:567
HP:0010936	Abnormality of the lower urinary tract	221037	JMJD1C	ORPHA:567
HP:0010936	Abnormality of the lower urinary tract	2812	GP1BB	ORPHA:567
HP:0010936	Abnormality of the lower urinary tract	6239	RREB1	ORPHA:567
HP:0010936	Abnormality of the lower urinary tract	7290	HIRA	ORPHA:567
HP:0010936	Abnormality of the lower urinary tract	9632	SEC24C	ORPHA:567
HP:0010936	Abnormality of the lower urinary tract	7353	UFD1	ORPHA:567
HP:0010936	Abnormality of the lower urinary tract	421	ARVCF	ORPHA:567
HP:0010936	Abnormality of the lower urinary tract	3670	ISL1	ORPHA:93930
HP:0010936	Abnormality of the lower urinary tract	25778	DSTYK	OMIM:610805
HP:0010936	Abnormality of the lower urinary tract	22827	PUF60	ORPHA:508488
HP:0010936	Abnormality of the lower urinary tract	10524	KAT5	OMIM:619103
HP:0010936	Abnormality of the lower urinary tract	1656	DDX6	OMIM:618653
HP:0010936	Abnormality of the lower urinary tract	5718	PSMD12	ORPHA:529962
HP:0010936	Abnormality of the lower urinary tract	2186	BPTF	ORPHA:529962
HP:0010936	Abnormality of the lower urinary tract	5277	PIGA	OMIM:300868
HP:0010936	Abnormality of the lower urinary tract	57178	ZMIZ1	OMIM:618659
HP:0010936	Abnormality of the lower urinary tract	8550	MAPKAPK5	OMIM:619869
HP:0010936	Abnormality of the lower urinary tract	80781	COL18A1	ORPHA:1571
HP:0010936	Abnormality of the lower urinary tract	5062	PAK2	ORPHA:1571
HP:0010936	Abnormality of the lower urinary tract	54496	PRMT7	ORPHA:464288
HP:0010936	Abnormality of the lower urinary tract	3192	HNRNPU	ORPHA:238769
HP:0010936	Abnormality of the lower urinary tract	23476	BRD4	ORPHA:199
HP:0010936	Abnormality of the lower urinary tract	9126	SMC3	ORPHA:199
HP:0010936	Abnormality of the lower urinary tract	8243	SMC1A	ORPHA:199
HP:0010936	Abnormality of the lower urinary tract	6878	TAF6	ORPHA:199
HP:0010936	Abnormality of the lower urinary tract	25836	NIPBL	ORPHA:199
HP:0010936	Abnormality of the lower urinary tract	25836	NIPBL	OMIM:122470
HP:0010936	Abnormality of the lower urinary tract	55869	HDAC8	ORPHA:199
HP:0010936	Abnormality of the lower urinary tract	5885	RAD21	ORPHA:199
HP:0010936	Abnormality of the lower urinary tract	5885	RAD21	ORPHA:502
HP:0010936	Abnormality of the lower urinary tract	5885	RAD21	OMIM:611376
HP:0010936	Abnormality of the lower urinary tract	4613	MYCN	ORPHA:391641
HP:0010936	Abnormality of the lower urinary tract	5530	PPP3CA	OMIM:618265
HP:0010936	Abnormality of the lower urinary tract	6135	RPL11	OMIM:612562
HP:0010936	Abnormality of the lower urinary tract	92002	CCNQ	OMIM:300707
HP:0010936	Abnormality of the lower urinary tract	92002	CCNQ	ORPHA:140952
HP:0010936	Abnormality of the lower urinary tract	9091	PIGQ	OMIM:618548
HP:0010936	Abnormality of the lower urinary tract	84720	PIGO	OMIM:614749
HP:0010936	Abnormality of the lower urinary tract	8405	SPOP	OMIM:618828
HP:0010936	Abnormality of the lower urinary tract	147912	SIX5	ORPHA:107
HP:0010936	Abnormality of the lower urinary tract	7227	TRPS1	ORPHA:502
HP:0010936	Abnormality of the lower urinary tract	8204	NRIP1	OMIM:618270
HP:0010936	Abnormality of the lower urinary tract	58508	KMT2C	ORPHA:261652
HP:0010936	Abnormality of the lower urinary tract	8318	CDC45	OMIM:617063
HP:0010936	Abnormality of the lower urinary tract	253959	RALGAPA1	OMIM:618797
HP:0010936	Abnormality of the lower urinary tract	1857	DVL3	OMIM:616894
HP:0010936	Abnormality of the lower urinary tract	51339	DACT1	OMIM:617466
HP:0010936	Abnormality of the lower urinary tract	51339	DACT1	ORPHA:857
HP:0010936	Abnormality of the lower urinary tract	7148	TNXB	OMIM:615963
HP:0010936	Abnormality of the lower urinary tract	7148	TNXB	OMIM:606408
HP:0010936	Abnormality of the lower urinary tract	182	JAG1	OMIM:118450
HP:0010936	Abnormality of the lower urinary tract	2255	FGF10	ORPHA:2363
HP:0010936	Abnormality of the lower urinary tract	51085	MLXIPL	OMIM:194050
HP:0010936	Abnormality of the lower urinary tract	11128	POLR3A	ORPHA:3455
HP:0010936	Abnormality of the lower urinary tract	9968	MED12	OMIM:301068
HP:0010936	Abnormality of the lower urinary tract	7369	UMOD	OMIM:162000
HP:0010936	Abnormality of the lower urinary tract	64220	STRA6	ORPHA:2470
HP:0010936	Abnormality of the lower urinary tract	7477	WNT7B	ORPHA:2470
HP:0010936	Abnormality of the lower urinary tract	5915	RARB	ORPHA:2470
HP:0010936	Abnormality of the lower urinary tract	1028	CDKN1C	OMIM:130650
HP:0010936	Abnormality of the lower urinary tract	3481	IGF2	OMIM:130650
HP:0010936	Abnormality of the lower urinary tract	3784	KCNQ1	OMIM:130650
HP:0010936	Abnormality of the lower urinary tract	10984	KCNQ1OT1	OMIM:130650
HP:0010936	Abnormality of the lower urinary tract	51360	MBTPS2	ORPHA:85284
HP:0010936	Abnormality of the lower urinary tract	546	ATRX	OMIM:309580
HP:0010936	Abnormality of the lower urinary tract	2625	GATA3	ORPHA:2237
HP:0010936	Abnormality of the lower urinary tract	6389	SDHA	ORPHA:3208
HP:0010936	Abnormality of the lower urinary tract	6390	SDHB	ORPHA:3208
HP:0010936	Abnormality of the lower urinary tract	6392	SDHD	ORPHA:3208
HP:0010936	Abnormality of the lower urinary tract	644096	SDHAF1	ORPHA:3208
HP:0010936	Abnormality of the lower urinary tract	9939	RBM8A	OMIM:274000
HP:0010936	Abnormality of the lower urinary tract	147372	CCBE1	OMIM:235510
HP:0010936	Abnormality of the lower urinary tract	9276	COPB2	ORPHA:2512
HP:0010936	Abnormality of the lower urinary tract	11113	CIT	ORPHA:2512
HP:0010936	Abnormality of the lower urinary tract	9928	KIF14	ORPHA:2512
HP:0010936	Abnormality of the lower urinary tract	22995	CEP152	ORPHA:2512
HP:0010936	Abnormality of the lower urinary tract	284403	WDR62	ORPHA:2512
HP:0010936	Abnormality of the lower urinary tract	55262	TRAPPC14	ORPHA:2512
HP:0010936	Abnormality of the lower urinary tract	163786	SASS6	ORPHA:2512
HP:0010936	Abnormality of the lower urinary tract	29920	PYCR2	ORPHA:2512
HP:0010936	Abnormality of the lower urinary tract	84879	MFSD2A	ORPHA:2512
HP:0010936	Abnormality of the lower urinary tract	4176	MCM7	ORPHA:2512
HP:0010936	Abnormality of the lower urinary tract	80254	CEP63	ORPHA:2512
HP:0010936	Abnormality of the lower urinary tract	29081	METTL5	ORPHA:2512
HP:0010936	Abnormality of the lower urinary tract	79023	NUP37	ORPHA:2512
HP:0010936	Abnormality of the lower urinary tract	23310	NCAPD3	ORPHA:2512
HP:0010936	Abnormality of the lower urinary tract	6301	SARS1	ORPHA:2512
HP:0010936	Abnormality of the lower urinary tract	55755	CDK5RAP2	ORPHA:2512
HP:0010936	Abnormality of the lower urinary tract	79648	MCPH1	ORPHA:2512
HP:0010936	Abnormality of the lower urinary tract	6491	STIL	ORPHA:2512
HP:0010936	Abnormality of the lower urinary tract	23141	ANKLE2	ORPHA:2512
HP:0010936	Abnormality of the lower urinary tract	259266	ASPM	ORPHA:2512
HP:0010936	Abnormality of the lower urinary tract	7109	TRAPPC10	ORPHA:2512
HP:0010936	Abnormality of the lower urinary tract	7453	WARS1	ORPHA:2512
HP:0010936	Abnormality of the lower urinary tract	1911	PHC1	ORPHA:2512
HP:0010936	Abnormality of the lower urinary tract	1062	CENPE	ORPHA:2512
HP:0010936	Abnormality of the lower urinary tract	6884	TAF13	ORPHA:2512
HP:0010936	Abnormality of the lower urinary tract	9662	CEP135	ORPHA:2512
HP:0010936	Abnormality of the lower urinary tract	57082	KNL1	ORPHA:2512
HP:0010936	Abnormality of the lower urinary tract	1021	CDK6	ORPHA:2512
HP:0010936	Abnormality of the lower urinary tract	9203	ZMYM3	OMIM:301111
HP:0010936	Abnormality of the lower urinary tract	8295	TRRAP	OMIM:618454
HP:0010936	Abnormality of the lower urinary tract	7319	UBE2A	ORPHA:163956
HP:0010936	Abnormality of the lower urinary tract	5908	RAP1B	OMIM:620654
HP:0010936	Abnormality of the lower urinary tract	80000	GREB1L	OMIM:617805
HP:0010936	Abnormality of the lower urinary tract	8085	KMT2D	OMIM:147920
HP:0010936	Abnormality of the lower urinary tract	7403	KDM6A	OMIM:147920
HP:0010936	Abnormality of the lower urinary tract	3293	HSD17B3	ORPHA:752
HP:0010936	Abnormality of the lower urinary tract	3106	HLA-B	ORPHA:36426
HP:0010936	Abnormality of the lower urinary tract	10320	IKZF1	ORPHA:36426
HP:0010936	Abnormality of the lower urinary tract	3209	HOXA13	ORPHA:2438
HP:0010936	Abnormality of the lower urinary tract	5339	PLEC	ORPHA:158684
HP:0010936	Abnormality of the lower urinary tract	3691	ITGB4	ORPHA:158684
HP:0010936	Abnormality of the lower urinary tract	3239	HOXD13	ORPHA:887
HP:0010936	Abnormality of the lower urinary tract	9860	LRIG2	ORPHA:2704
HP:0010936	Abnormality of the lower urinary tract	60495	HPSE2	ORPHA:2704
HP:0010936	Abnormality of the lower urinary tract	60495	HPSE2	OMIM:236730
HP:0010936	Abnormality of the lower urinary tract	6595	SMARCA2	OMIM:619293
HP:0010936	Abnormality of the lower urinary tract	1741	DLG3	OMIM:300850
HP:0010936	Abnormality of the lower urinary tract	6524	SLC5A2	ORPHA:69076
HP:0010936	Abnormality of the lower urinary tract	54941	RNF125	OMIM:616260
HP:0010936	Abnormality of the lower urinary tract	54757	FAM20A	OMIM:204690
HP:0010936	Abnormality of the lower urinary tract	54757	FAM20A	ORPHA:1031
HP:0010936	Abnormality of the lower urinary tract	3766	KCNJ10	OMIM:612780
HP:0010936	Abnormality of the lower urinary tract	3766	KCNJ10	ORPHA:199343
HP:0010936	Abnormality of the lower urinary tract	27086	FOXP1	OMIM:613670
HP:0010936	Abnormality of the lower urinary tract	10165	SLC25A13	ORPHA:247585
HP:0010936	Abnormality of the lower urinary tract	189	AGXT	ORPHA:93598
HP:0010936	Abnormality of the lower urinary tract	1760	DMPK	ORPHA:589821
HP:0010936	Abnormality of the lower urinary tract	5442	POLRMT	OMIM:619743
HP:0010936	Abnormality of the lower urinary tract	3708	ITPR1	OMIM:117360
HP:0010936	Abnormality of the lower urinary tract	27031	NPHP3	OMIM:604387
HP:0010936	Abnormality of the lower urinary tract	1801	DPH1	ORPHA:459061
HP:0010936	Abnormality of the lower urinary tract	1802	DPH2	ORPHA:459061
HP:0010936	Abnormality of the lower urinary tract	1317	SLC31A1	OMIM:620306
HP:0010936	Abnormality of the lower urinary tract	4534	MTM1	ORPHA:456328
HP:0010936	Abnormality of the lower urinary tract	389827	MYMK	ORPHA:1358
HP:0010936	Abnormality of the lower urinary tract	101929726	MYMX	ORPHA:1358
HP:0010936	Abnormality of the lower urinary tract	372	ARCN1	OMIM:617164
HP:0010936	Abnormality of the lower urinary tract	10584	COLEC10	OMIM:248340
HP:0010936	Abnormality of the lower urinary tract	7355	SLC35A2	OMIM:300896
HP:0010936	Abnormality of the lower urinary tract	51733	UPB1	OMIM:613161
HP:0010936	Abnormality of the lower urinary tract	1009	CDH11	ORPHA:1299
HP:0010936	Abnormality of the lower urinary tract	5053	PAH	ORPHA:2209
HP:0010936	Abnormality of the lower urinary tract	23533	PIK3R5	ORPHA:64753
HP:0010936	Abnormality of the lower urinary tract	23064	SETX	ORPHA:64753
HP:0010936	Abnormality of the lower urinary tract	4312	MMP1	ORPHA:79408
HP:0010936	Abnormality of the lower urinary tract	1294	COL7A1	ORPHA:79408
HP:0010936	Abnormality of the lower urinary tract	51308	REEP2	ORPHA:401849
HP:0010936	Abnormality of the lower urinary tract	51308	REEP2	OMIM:615625
HP:0010936	Abnormality of the lower urinary tract	2670	GFAP	ORPHA:363722
HP:0010936	Abnormality of the lower urinary tract	547	KIF1A	OMIM:610357
HP:0010936	Abnormality of the lower urinary tract	6310	ATXN1	OMIM:164400
HP:0010936	Abnormality of the lower urinary tract	5376	PMP22	ORPHA:3115
HP:0010936	Abnormality of the lower urinary tract	4359	MPZ	ORPHA:3115
HP:0010936	Abnormality of the lower urinary tract	3178	HNRNPA1	ORPHA:52430
HP:0010936	Abnormality of the lower urinary tract	3181	HNRNPA2B1	ORPHA:52430
HP:0010936	Abnormality of the lower urinary tract	57724	EPG5	OMIM:242840
HP:0010936	Abnormality of the lower urinary tract	55157	DARS2	ORPHA:137898
HP:0010936	Abnormality of the lower urinary tract	23317	DNAJC13	ORPHA:411602
HP:0010936	Abnormality of the lower urinary tract	1981	EIF4G1	ORPHA:411602
HP:0010936	Abnormality of the lower urinary tract	55737	VPS35	ORPHA:411602
HP:0010936	Abnormality of the lower urinary tract	120892	LRRK2	ORPHA:411602
HP:0010936	Abnormality of the lower urinary tract	26058	GIGYF2	ORPHA:411602
HP:0010936	Abnormality of the lower urinary tract	79796	ALG9	ORPHA:79328
HP:0010936	Abnormality of the lower urinary tract	6091	ROBO1	OMIM:620305
HP:0010936	Abnormality of the lower urinary tract	54453	RIN2	OMIM:613075
HP:0010936	Abnormality of the lower urinary tract	2737	GLI3	OMIM:146510
HP:0010936	Abnormality of the lower urinary tract	197131	UBR1	OMIM:243800
HP:0010936	Abnormality of the lower urinary tract	55112	DYNC2I1	ORPHA:93271
HP:0010936	Abnormality of the lower urinary tract	57560	IFT80	ORPHA:93271
HP:0010936	Abnormality of the lower urinary tract	57539	WDR35	ORPHA:93271
HP:0010936	Abnormality of the lower urinary tract	79659	DYNC2H1	ORPHA:93271
HP:0010936	Abnormality of the lower urinary tract	89891	DYNC2I2	ORPHA:93271
HP:0010936	Abnormality of the lower urinary tract	5337	PLD1	OMIM:212093
HP:0010936	Abnormality of the lower urinary tract	4052	LTBP1	ORPHA:90349
HP:0010936	Abnormality of the lower urinary tract	30008	EFEMP2	ORPHA:90349
HP:0010936	Abnormality of the lower urinary tract	10516	FBLN5	ORPHA:90349
HP:0010936	Abnormality of the lower urinary tract	10046	MAMLD1	ORPHA:95706
HP:0010936	Abnormality of the lower urinary tract	367	AR	ORPHA:95706
HP:0010936	Abnormality of the lower urinary tract	10606	PAICS	OMIM:619859
HP:0010936	Abnormality of the lower urinary tract	745	MYRF	OMIM:618280
HP:0010936	Abnormality of the lower urinary tract	4714	NDUFB8	OMIM:618252
HP:0010936	Abnormality of the lower urinary tract	5575	PRKAR1B	OMIM:619680
HP:0010936	Abnormality of the lower urinary tract	649	BMP1	OMIM:614856
HP:0010936	Abnormality of the lower urinary tract	165918	RNF168	ORPHA:420741
HP:0010936	Abnormality of the lower urinary tract	93986	FOXP2	ORPHA:251061
HP:0010936	Abnormality of the lower urinary tract	5354	PLP1	ORPHA:280229
HP:0010936	Abnormality of the lower urinary tract	3028	HSD17B10	ORPHA:391428
HP:0010936	Abnormality of the lower urinary tract	2294	FOXF1	OMIM:265380
HP:0010936	Abnormality of the lower urinary tract	93649	MYOCD	OMIM:618719
HP:0010936	Abnormality of the lower urinary tract	5422	POLA1	OMIM:301220
HP:0010936	Abnormality of the lower urinary tract	5317	PKP1	ORPHA:158668
HP:0010936	Abnormality of the lower urinary tract	2324	FLT4	OMIM:153100
HP:0010936	Abnormality of the lower urinary tract	5880	RAC2	OMIM:608203
HP:0010936	Abnormality of the lower urinary tract	8425	LTBP4	OMIM:613177
HP:0010936	Abnormality of the lower urinary tract	267010	RNU12	OMIM:603116
HP:0010936	Abnormality of the lower urinary tract	4088	SMAD3	ORPHA:284984
HP:0010936	Abnormality of the lower urinary tract	6794	STK11	OMIM:175200
HP:0010936	Abnormality of the lower urinary tract	161742	SPRED1	ORPHA:137605
HP:0010936	Abnormality of the lower urinary tract	5792	PTPRF	OMIM:616001
HP:0010936	Abnormality of the lower urinary tract	55898	UNC45A	OMIM:619377
HP:0010936	Abnormality of the lower urinary tract	64321	SOX17	OMIM:613674
HP:0010936	Abnormality of the lower urinary tract	8291	DYSF	ORPHA:268
HP:0010936	Abnormality of the lower urinary tract	4683	NBN	ORPHA:647
HP:0010936	Abnormality of the lower urinary tract	112817	HOGA1	ORPHA:93600
HP:0010936	Abnormality of the lower urinary tract	55612	FERMT1	ORPHA:2908
HP:0010936	Abnormality of the lower urinary tract	83550	GPR101	ORPHA:963
HP:0010936	Abnormality of the lower urinary tract	9049	AIP	ORPHA:963
HP:0010936	Abnormality of the lower urinary tract	146206	CARMIL2	OMIM:618131
HP:0010936	Abnormality of the lower urinary tract	3251	HPRT1	ORPHA:79233
HP:0010936	Abnormality of the lower urinary tract	92579	G6PC3	OMIM:612541
HP:0010936	Abnormality of the lower urinary tract	3655	ITGA6	ORPHA:79403
HP:0010936	Abnormality of the lower urinary tract	80169	CTC1	ORPHA:1775
HP:0010936	Abnormality of the lower urinary tract	26277	TINF2	ORPHA:1775
HP:0010936	Abnormality of the lower urinary tract	55651	NHP2	ORPHA:1775
HP:0010936	Abnormality of the lower urinary tract	79650	USB1	ORPHA:1775
HP:0010936	Abnormality of the lower urinary tract	55135	WRAP53	ORPHA:1775
HP:0010936	Abnormality of the lower urinary tract	51750	RTEL1	ORPHA:1775
HP:0010936	Abnormality of the lower urinary tract	4869	NPM1	ORPHA:1775
HP:0010936	Abnormality of the lower urinary tract	7012	TERC	ORPHA:1775
HP:0010936	Abnormality of the lower urinary tract	55505	NOP10	ORPHA:1775
HP:0010936	Abnormality of the lower urinary tract	5073	PARN	ORPHA:1775
HP:0010936	Abnormality of the lower urinary tract	7015	TERT	ORPHA:1775
HP:0010936	Abnormality of the lower urinary tract	1736	DKC1	ORPHA:1775
HP:0010936	Abnormality of the lower urinary tract	7298	TYMS	ORPHA:1775
HP:0010936	Abnormality of the lower urinary tract	5080	PAX6	ORPHA:893
HP:0010936	Abnormality of the lower urinary tract	7490	WT1	ORPHA:893
HP:0010936	Abnormality of the lower urinary tract	627	BDNF	ORPHA:893
HP:0010936	Abnormality of the lower urinary tract	79827	CLMP	ORPHA:2301
HP:0010936	Abnormality of the lower urinary tract	2316	FLNA	ORPHA:2301
HP:0010936	Abnormality of the lower urinary tract	10908	PNPLA6	ORPHA:2377
HP:0010936	Abnormality of the lower urinary tract	6899	TBX1	ORPHA:1727
HP:0010936	Abnormality of the lower urinary tract	2767	GNA11	ORPHA:1556
HP:0010936	Abnormality of the lower urinary tract	151188	ARL6IP6	ORPHA:1556
HP:0010936	Abnormality of the lower urinary tract	1583	CYP11A1	ORPHA:289548
HP:0010936	Abnormality of the lower urinary tract	1583	CYP11A1	ORPHA:168558
HP:0010936	Abnormality of the lower urinary tract	7026	NR2F2	OMIM:618901
HP:0010936	Abnormality of the lower urinary tract	6662	SOX9	ORPHA:2138
HP:0010936	Abnormality of the lower urinary tract	6662	SOX9	ORPHA:251510
HP:0010936	Abnormality of the lower urinary tract	2516	NR5A1	ORPHA:2138
HP:0010936	Abnormality of the lower urinary tract	2516	NR5A1	ORPHA:251510
HP:0010936	Abnormality of the lower urinary tract	6736	SRY	ORPHA:2138
HP:0010936	Abnormality of the lower urinary tract	6736	SRY	ORPHA:1772
HP:0010936	Abnormality of the lower urinary tract	6736	SRY	ORPHA:251510
HP:0010936	Abnormality of the lower urinary tract	4659	PPP1R12A	OMIM:618820
HP:0010936	Abnormality of the lower urinary tract	57647	DHX37	OMIM:273250
HP:0010936	Abnormality of the lower urinary tract	57647	DHX37	ORPHA:251510
HP:0010936	Abnormality of the lower urinary tract	6845	VAMP7	ORPHA:251510
HP:0010936	Abnormality of the lower urinary tract	51741	WWOX	ORPHA:251510
HP:0010936	Abnormality of the lower urinary tract	4214	MAP3K1	ORPHA:251510
HP:0010936	Abnormality of the lower urinary tract	23414	ZFPM2	ORPHA:251510
HP:0010936	Abnormality of the lower urinary tract	190	NR0B1	ORPHA:251510
HP:0010936	Abnormality of the lower urinary tract	2626	GATA4	ORPHA:251510
HP:0010936	Abnormality of the lower urinary tract	8195	MKKS	ORPHA:2473
HP:0010936	Abnormality of the lower urinary tract	6716	SRD5A2	ORPHA:753
HP:0010937	Abnormal nasal skeleton morphology	124590	USH1G	OMIM:606943
HP:0010937	Abnormal nasal skeleton morphology	4796	TONSL	ORPHA:93357
HP:0010937	Abnormal nasal skeleton morphology	5727	PTCH1	OMIM:610828
HP:0010937	Abnormal nasal skeleton morphology	7050	TGIF1	OMIM:142946
HP:0010937	Abnormal nasal skeleton morphology	6496	SIX3	OMIM:157170
HP:0010937	Abnormal nasal skeleton morphology	1499	CTNNB1	ORPHA:54595
HP:0010937	Abnormal nasal skeleton morphology	673	BRAF	ORPHA:54595
HP:0010937	Abnormal nasal skeleton morphology	29957	SLC25A24	ORPHA:2095
HP:0010937	Abnormal nasal skeleton morphology	4659	PPP1R12A	OMIM:618820
HP:0010937	Abnormal nasal skeleton morphology	5159	PDGFRB	OMIM:601812
HP:0010937	Abnormal nasal skeleton morphology	60529	ALX4	OMIM:613451
HP:0010937	Abnormal nasal skeleton morphology	7317	UBA1	OMIM:301054
HP:0010938	Abnormal external nose morphology	11113	CIT	OMIM:617090
HP:0010938	Abnormal external nose morphology	7528	YY1	ORPHA:506358
HP:0010938	Abnormal external nose morphology	8450	CUL4B	OMIM:300354
HP:0010938	Abnormal external nose morphology	27316	RBMX	OMIM:300238
HP:0010938	Abnormal external nose morphology	27316	RBMX	ORPHA:85286
HP:0010938	Abnormal external nose morphology	9853	RUSC2	OMIM:617773
HP:0010938	Abnormal external nose morphology	83932	SPRTN	OMIM:616200
HP:0010938	Abnormal external nose morphology	26128	KIFBP	OMIM:609460
HP:0010938	Abnormal external nose morphology	55627	SMPD4	OMIM:618622
HP:0010938	Abnormal external nose morphology	8854	ALDH1A2	OMIM:620025
HP:0010938	Abnormal external nose morphology	5447	POR	ORPHA:95699
HP:0010938	Abnormal external nose morphology	1278	COL1A2	ORPHA:230851
HP:0010938	Abnormal external nose morphology	10084	PQBP1	ORPHA:93945
HP:0010938	Abnormal external nose morphology	10084	PQBP1	ORPHA:93946
HP:0010938	Abnormal external nose morphology	10084	PQBP1	OMIM:309500
HP:0010938	Abnormal external nose morphology	4010	LMX1B	ORPHA:495818
HP:0010938	Abnormal external nose morphology	6812	STXBP1	ORPHA:495818
HP:0010938	Abnormal external nose morphology	55690	PACS1	OMIM:615009
HP:0010938	Abnormal external nose morphology	55690	PACS1	ORPHA:329224
HP:0010938	Abnormal external nose morphology	23431	AP4E1	OMIM:613744
HP:0010938	Abnormal external nose morphology	23431	AP4E1	ORPHA:280763
HP:0010938	Abnormal external nose morphology	284403	WDR62	OMIM:604317
HP:0010938	Abnormal external nose morphology	84720	PIGO	ORPHA:247262
HP:0010938	Abnormal external nose morphology	93210	PGAP3	ORPHA:247262
HP:0010938	Abnormal external nose morphology	284098	PIGW	ORPHA:247262
HP:0010938	Abnormal external nose morphology	27315	PGAP2	ORPHA:247262
HP:0010938	Abnormal external nose morphology	55650	PIGV	ORPHA:247262
HP:0010938	Abnormal external nose morphology	9487	PIGL	ORPHA:247262
HP:0010938	Abnormal external nose morphology	3899	AFF3	OMIM:619297
HP:0010938	Abnormal external nose morphology	1889	ECE1	OMIM:613870
HP:0010938	Abnormal external nose morphology	54543	TOMM7	OMIM:620601
HP:0010938	Abnormal external nose morphology	23184	MESD	OMIM:618644
HP:0010938	Abnormal external nose morphology	55681	SCYL2	OMIM:618766
HP:0010938	Abnormal external nose morphology	26523	AGO1	OMIM:620292
HP:0010938	Abnormal external nose morphology	84504	NKX6-2	OMIM:617560
HP:0010938	Abnormal external nose morphology	1193	CLIC2	ORPHA:324410
HP:0010938	Abnormal external nose morphology	3782	KCNN3	ORPHA:3473
HP:0010938	Abnormal external nose morphology	1182	CLCN3	OMIM:619512
HP:0010938	Abnormal external nose morphology	10717	AP4B1	OMIM:614066
HP:0010938	Abnormal external nose morphology	10717	AP4B1	ORPHA:280763
HP:0010938	Abnormal external nose morphology	11154	AP4S1	OMIM:614067
HP:0010938	Abnormal external nose morphology	11154	AP4S1	ORPHA:280763
HP:0010938	Abnormal external nose morphology	55773	TBC1D23	OMIM:617695
HP:0010938	Abnormal external nose morphology	6660	SOX5	OMIM:616803
HP:0010938	Abnormal external nose morphology	79753	SNIP1	OMIM:614501
HP:0010938	Abnormal external nose morphology	23137	SMC5	OMIM:620185
HP:0010938	Abnormal external nose morphology	55343	SLC35C1	OMIM:266265
HP:0010938	Abnormal external nose morphology	283209	PGM2L1	OMIM:620191
HP:0010938	Abnormal external nose morphology	6942	TCF20	OMIM:618430
HP:0010938	Abnormal external nose morphology	92002	CCNQ	ORPHA:140952
HP:0010938	Abnormal external nose morphology	182	JAG1	OMIM:118450
HP:0010938	Abnormal external nose morphology	57466	SCAF4	OMIM:620511
HP:0010938	Abnormal external nose morphology	51322	WAC	ORPHA:284169
HP:0010938	Abnormal external nose morphology	51322	WAC	OMIM:616708
HP:0010938	Abnormal external nose morphology	51322	WAC	ORPHA:466950
HP:0010938	Abnormal external nose morphology	26047	CNTNAP2	OMIM:610042
HP:0010938	Abnormal external nose morphology	4313	MMP2	OMIM:259600
HP:0010938	Abnormal external nose morphology	10195	ALG3	OMIM:601110
HP:0010938	Abnormal external nose morphology	81570	CLPB	OMIM:616271
HP:0010938	Abnormal external nose morphology	8621	CDK13	OMIM:617360
HP:0010938	Abnormal external nose morphology	583	BBS2	OMIM:615981
HP:0010938	Abnormal external nose morphology	26173	INTS1	OMIM:618571
HP:0010938	Abnormal external nose morphology	1523	CUX1	OMIM:618330
HP:0010938	Abnormal external nose morphology	5908	RAP1B	OMIM:620654
HP:0010938	Abnormal external nose morphology	5910	RAP1GDS1	OMIM:620655
HP:0010938	Abnormal external nose morphology	3720	JARID2	OMIM:620098
HP:0010938	Abnormal external nose morphology	10075	HUWE1	OMIM:309590
HP:0010938	Abnormal external nose morphology	10765	KDM5B	OMIM:618109
HP:0010938	Abnormal external nose morphology	2290	FOXG1	OMIM:613454
HP:0010938	Abnormal external nose morphology	2290	FOXG1	ORPHA:261144
HP:0010938	Abnormal external nose morphology	85358	SHANK3	OMIM:606232
HP:0010938	Abnormal external nose morphology	51412	ACTL6B	OMIM:618470
HP:0010938	Abnormal external nose morphology	1436	CSF1R	OMIM:618476
HP:0010938	Abnormal external nose morphology	23524	SRRM2	OMIM:620439
HP:0010938	Abnormal external nose morphology	4953	ODC1	ORPHA:544488
HP:0010938	Abnormal external nose morphology	30008	EFEMP2	OMIM:614437
HP:0010938	Abnormal external nose morphology	23097	CDK19	OMIM:618916
HP:0010938	Abnormal external nose morphology	9179	AP4M1	OMIM:612936
HP:0010938	Abnormal external nose morphology	9179	AP4M1	ORPHA:280763
HP:0010938	Abnormal external nose morphology	79840	NHEJ1	ORPHA:169079
HP:0010938	Abnormal external nose morphology	26224	FBXL3	OMIM:606220
HP:0010938	Abnormal external nose morphology	4297	KMT2A	OMIM:605130
HP:0010938	Abnormal external nose morphology	55777	MBD5	OMIM:156200
HP:0010938	Abnormal external nose morphology	10735	STAG2	OMIM:301022
HP:0010938	Abnormal external nose morphology	11253	MAN1B1	OMIM:614202
HP:0010938	Abnormal external nose morphology	3759	KCNJ2	OMIM:170390
HP:0010938	Abnormal external nose morphology	3759	KCNJ2	ORPHA:37553
HP:0010938	Abnormal external nose morphology	23389	MED13L	ORPHA:369891
HP:0010938	Abnormal external nose morphology	23389	MED13L	OMIM:616789
HP:0010938	Abnormal external nose morphology	1312	COMT	ORPHA:567
HP:0010938	Abnormal external nose morphology	221037	JMJD1C	ORPHA:567
HP:0010938	Abnormal external nose morphology	2812	GP1BB	ORPHA:567
HP:0010938	Abnormal external nose morphology	6239	RREB1	ORPHA:567
HP:0010938	Abnormal external nose morphology	7290	HIRA	ORPHA:567
HP:0010938	Abnormal external nose morphology	9632	SEC24C	ORPHA:567
HP:0010938	Abnormal external nose morphology	7353	UFD1	ORPHA:567
HP:0010938	Abnormal external nose morphology	421	ARVCF	ORPHA:567
HP:0010938	Abnormal external nose morphology	9496	TBX4	ORPHA:261279
HP:0010938	Abnormal external nose morphology	10524	KAT5	OMIM:619103
HP:0010938	Abnormal external nose morphology	9757	KMT2B	OMIM:617284
HP:0010938	Abnormal external nose morphology	9757	KMT2B	ORPHA:589618
HP:0010938	Abnormal external nose morphology	9757	KMT2B	OMIM:619934
HP:0010938	Abnormal external nose morphology	22808	MRAS	OMIM:618499
HP:0010938	Abnormal external nose morphology	23522	KAT6B	OMIM:603736
HP:0010938	Abnormal external nose morphology	23522	KAT6B	ORPHA:3047
HP:0010938	Abnormal external nose morphology	1822	ATN1	OMIM:618494
HP:0010938	Abnormal external nose morphology	79644	SRD5A3	OMIM:612713
HP:0010938	Abnormal external nose morphology	57572	DOCK6	OMIM:614219
HP:0010938	Abnormal external nose morphology	158326	FREM1	OMIM:608980
HP:0010938	Abnormal external nose morphology	57003	CCDC47	OMIM:618268
HP:0010938	Abnormal external nose morphology	26005	C2CD3	ORPHA:434179
HP:0010938	Abnormal external nose morphology	10815	CPLX1	OMIM:617976
HP:0010938	Abnormal external nose morphology	80781	COL18A1	OMIM:267750
HP:0010938	Abnormal external nose morphology	10682	EBP	OMIM:300960
HP:0010938	Abnormal external nose morphology	54870	QRICH1	OMIM:617982
HP:0010938	Abnormal external nose morphology	9702	CEP57	OMIM:614114
HP:0010938	Abnormal external nose morphology	50485	SMARCAL1	OMIM:242900
HP:0010938	Abnormal external nose morphology	118924	FRA10AC1	OMIM:620113
HP:0010938	Abnormal external nose morphology	1376	CPT2	OMIM:608836
HP:0010938	Abnormal external nose morphology	2332	FMR1	ORPHA:261483
HP:0010938	Abnormal external nose morphology	1748	DLX4	OMIM:616788
HP:0010938	Abnormal external nose morphology	54187	NANS	OMIM:610442
HP:0010938	Abnormal external nose morphology	8777	MPDZ	OMIM:615219
HP:0010938	Abnormal external nose morphology	84464	SLX4	OMIM:613951
HP:0010938	Abnormal external nose morphology	23040	MYT1L	ORPHA:647799
HP:0010938	Abnormal external nose morphology	55181	SMG8	OMIM:619268
HP:0010938	Abnormal external nose morphology	7543	ZFX	OMIM:301118
HP:0010938	Abnormal external nose morphology	10844	TUBGCP2	OMIM:618737
HP:0010938	Abnormal external nose morphology	9898	UBAP2L	OMIM:620494
HP:0010938	Abnormal external nose morphology	3762	KCNJ5	ORPHA:37553
HP:0010938	Abnormal external nose morphology	3187	HNRNPH1	OMIM:620083
HP:0010938	Abnormal external nose morphology	54914	FOCAD	OMIM:619991
HP:0010938	Abnormal external nose morphology	84942	WDR73	OMIM:251300
HP:0010938	Abnormal external nose morphology	857	CAV1	OMIM:606721
HP:0010938	Abnormal external nose morphology	113179	ADAT3	ORPHA:363528
HP:0010938	Abnormal external nose morphology	5832	ALDH18A1	OMIM:219150
HP:0010938	Abnormal external nose morphology	55217	TMLHE	OMIM:300872
HP:0010938	Abnormal external nose morphology	3763	KCNJ6	ORPHA:435628
HP:0010938	Abnormal external nose morphology	3763	KCNJ6	OMIM:614098
HP:0010938	Abnormal external nose morphology	4621	MYH3	ORPHA:2053
HP:0010938	Abnormal external nose morphology	4621	MYH3	OMIM:193700
HP:0010938	Abnormal external nose morphology	259232	NALCN	ORPHA:2053
HP:0010938	Abnormal external nose morphology	1281	COL3A1	OMIM:618343
HP:0010938	Abnormal external nose morphology	341640	FREM2	ORPHA:2052
HP:0010938	Abnormal external nose morphology	341640	FREM2	OMIM:617666
HP:0010938	Abnormal external nose morphology	80144	FRAS1	ORPHA:2052
HP:0010938	Abnormal external nose morphology	80144	FRAS1	OMIM:219000
HP:0010938	Abnormal external nose morphology	23426	GRIP1	ORPHA:2052
HP:0010938	Abnormal external nose morphology	340533	NEXMIF	OMIM:300912
HP:0010938	Abnormal external nose morphology	1859	DYRK1A	ORPHA:268261
HP:0010938	Abnormal external nose morphology	29123	ANKRD11	ORPHA:2332
HP:0010938	Abnormal external nose morphology	29123	ANKRD11	OMIM:148050
HP:0010938	Abnormal external nose morphology	9759	HDAC4	ORPHA:1001
HP:0010938	Abnormal external nose morphology	8092	ALX1	OMIM:613456
HP:0010938	Abnormal external nose morphology	8092	ALX1	ORPHA:306542
HP:0010938	Abnormal external nose morphology	100151683	RNU4ATAC	ORPHA:353298
HP:0010938	Abnormal external nose morphology	100151683	RNU4ATAC	OMIM:616651
HP:0010938	Abnormal external nose morphology	79650	USB1	OMIM:604173
HP:0010938	Abnormal external nose morphology	3190	HNRNPK	ORPHA:453504
HP:0010938	Abnormal external nose morphology	3190	HNRNPK	OMIM:616580
HP:0010938	Abnormal external nose morphology	3190	HNRNPK	ORPHA:352665
HP:0010938	Abnormal external nose morphology	4784	NFIX	ORPHA:447980
HP:0010938	Abnormal external nose morphology	9241	NOG	OMIM:184460
HP:0010938	Abnormal external nose morphology	9241	NOG	OMIM:186500
HP:0010938	Abnormal external nose morphology	5631	PRPS1	ORPHA:423479
HP:0010938	Abnormal external nose morphology	197131	UBR1	OMIM:243800
HP:0010938	Abnormal external nose morphology	197131	UBR1	ORPHA:2315
HP:0010938	Abnormal external nose morphology	10847	SRCAP	OMIM:136140
HP:0010938	Abnormal external nose morphology	91179	SCARF2	OMIM:600920
HP:0010938	Abnormal external nose morphology	3020	H3-3A	OMIM:619720
HP:0010938	Abnormal external nose morphology	613	BCR	ORPHA:261330
HP:0010938	Abnormal external nose morphology	1399	CRKL	ORPHA:261330
HP:0010938	Abnormal external nose morphology	5594	MAPK1	ORPHA:261330
HP:0010938	Abnormal external nose morphology	29998	BICRA	OMIM:619325
HP:0010938	Abnormal external nose morphology	80816	ASXL3	OMIM:615485
HP:0010938	Abnormal external nose morphology	80816	ASXL3	ORPHA:352577
HP:0010938	Abnormal external nose morphology	10978	CLP1	ORPHA:411493
HP:0010938	Abnormal external nose morphology	10978	CLP1	OMIM:615803
HP:0010938	Abnormal external nose morphology	2317	FLNB	OMIM:112310
HP:0010938	Abnormal external nose morphology	54101	RIPK4	ORPHA:1234
HP:0010938	Abnormal external nose morphology	54101	RIPK4	OMIM:263650
HP:0010938	Abnormal external nose morphology	526	ATP6V1B2	OMIM:616455
HP:0010938	Abnormal external nose morphology	5831	PYCR1	OMIM:614438
HP:0010938	Abnormal external nose morphology	5339	PLEC	OMIM:612138
HP:0010938	Abnormal external nose morphology	150468	CKAP2L	ORPHA:3255
HP:0010938	Abnormal external nose morphology	150468	CKAP2L	OMIM:272440
HP:0010938	Abnormal external nose morphology	1908	EDN3	ORPHA:897
HP:0010938	Abnormal external nose morphology	4286	MITF	ORPHA:897
HP:0010938	Abnormal external nose morphology	4286	MITF	OMIM:193510
HP:0010938	Abnormal external nose morphology	1910	EDNRB	ORPHA:897
HP:0010938	Abnormal external nose morphology	6663	SOX10	ORPHA:897
HP:0010938	Abnormal external nose morphology	6663	SOX10	ORPHA:163746
HP:0010938	Abnormal external nose morphology	6595	SMARCA2	OMIM:619293
HP:0010938	Abnormal external nose morphology	1896	EDA	OMIM:305100
HP:0010938	Abnormal external nose morphology	284058	KANSL1	ORPHA:363958
HP:0010938	Abnormal external nose morphology	284058	KANSL1	ORPHA:363965
HP:0010938	Abnormal external nose morphology	8260	NAA10	OMIM:300855
HP:0010938	Abnormal external nose morphology	8260	NAA10	ORPHA:276432
HP:0010938	Abnormal external nose morphology	166378	AFG2A	ORPHA:457351
HP:0010938	Abnormal external nose morphology	51109	RDH11	OMIM:616108
HP:0010938	Abnormal external nose morphology	51109	RDH11	ORPHA:436245
HP:0010938	Abnormal external nose morphology	2248	FGF3	ORPHA:90024
HP:0010938	Abnormal external nose morphology	2697	GJA1	ORPHA:2710
HP:0010938	Abnormal external nose morphology	2697	GJA1	OMIM:164200
HP:0010938	Abnormal external nose morphology	2697	GJA1	OMIM:257850
HP:0010938	Abnormal external nose morphology	64327	LMBR1	OMIM:135750
HP:0010938	Abnormal external nose morphology	64327	LMBR1	ORPHA:2378
HP:0010938	Abnormal external nose morphology	9401	RECQL4	OMIM:218600
HP:0010938	Abnormal external nose morphology	79796	ALG9	OMIM:263210
HP:0010938	Abnormal external nose morphology	79796	ALG9	ORPHA:79328
HP:0010938	Abnormal external nose morphology	3188	HNRNPH2	OMIM:300986
HP:0010938	Abnormal external nose morphology	5813	PURA	ORPHA:438216
HP:0010938	Abnormal external nose morphology	5813	PURA	OMIM:616158
HP:0010938	Abnormal external nose morphology	55012	PPP2R3C	OMIM:618419
HP:0010938	Abnormal external nose morphology	4598	MVK	OMIM:610377
HP:0010938	Abnormal external nose morphology	5000	ORC4	OMIM:613800
HP:0010938	Abnormal external nose morphology	25942	SIN3A	OMIM:613406
HP:0010938	Abnormal external nose morphology	26834	RNU4-2	OMIM:620851
HP:0010938	Abnormal external nose morphology	6874	TAF4	OMIM:620450
HP:0010938	Abnormal external nose morphology	1499	CTNNB1	ORPHA:404473
HP:0010938	Abnormal external nose morphology	55699	IARS2	OMIM:616007
HP:0010938	Abnormal external nose morphology	7204	TRIO	OMIM:618825
HP:0010938	Abnormal external nose morphology	117581	TWIST2	OMIM:209885
HP:0010938	Abnormal external nose morphology	117581	TWIST2	ORPHA:920
HP:0010938	Abnormal external nose morphology	79005	SCNM1	OMIM:620107
HP:0010938	Abnormal external nose morphology	10283	CWC27	OMIM:250410
HP:0010938	Abnormal external nose morphology	10283	CWC27	ORPHA:166035
HP:0010938	Abnormal external nose morphology	8626	TP63	OMIM:129400
HP:0010938	Abnormal external nose morphology	1836	SLC26A2	ORPHA:628
HP:0010938	Abnormal external nose morphology	157570	ESCO2	ORPHA:3103
HP:0010938	Abnormal external nose morphology	157570	ESCO2	OMIM:268300
HP:0010938	Abnormal external nose morphology	8085	KMT2D	OMIM:620186
HP:0010938	Abnormal external nose morphology	8085	KMT2D	OMIM:147920
HP:0010938	Abnormal external nose morphology	2132	EXT2	ORPHA:52022
HP:0010938	Abnormal external nose morphology	60529	ALX4	ORPHA:52022
HP:0010938	Abnormal external nose morphology	60529	ALX4	ORPHA:228390
HP:0010938	Abnormal external nose morphology	51317	PHF21A	ORPHA:52022
HP:0010938	Abnormal external nose morphology	10907	TXNL4A	OMIM:608572
HP:0010938	Abnormal external nose morphology	8567	MADD	OMIM:619005
HP:0010938	Abnormal external nose morphology	10651	MTX2	OMIM:619127
HP:0010938	Abnormal external nose morphology	4256	MGP	ORPHA:85202
HP:0010938	Abnormal external nose morphology	8481	OFD1	OMIM:311200
HP:0010938	Abnormal external nose morphology	8481	OFD1	ORPHA:2750
HP:0010938	Abnormal external nose morphology	5500	PPP1CB	OMIM:617506
HP:0010938	Abnormal external nose morphology	2542	SLC37A4	OMIM:619525
HP:0010938	Abnormal external nose morphology	7291	TWIST1	OMIM:617746
HP:0010938	Abnormal external nose morphology	54487	DGCR8	OMIM:192430
HP:0010938	Abnormal external nose morphology	6899	TBX1	OMIM:192430
HP:0010938	Abnormal external nose morphology	8214	DGCR6	OMIM:192430
HP:0010938	Abnormal external nose morphology	8220	ESS2	OMIM:192430
HP:0010938	Abnormal external nose morphology	9993	DGCR2	OMIM:192430
HP:0010938	Abnormal external nose morphology	5077	PAX3	ORPHA:894
HP:0010938	Abnormal external nose morphology	5077	PAX3	OMIM:193500
HP:0010938	Abnormal external nose morphology	80267	EDEM3	OMIM:619493
HP:0010938	Abnormal external nose morphology	5295	PIK3R1	OMIM:269880
HP:0010938	Abnormal external nose morphology	54888	NSUN2	OMIM:611091
HP:0010938	Abnormal external nose morphology	1984	EIF5A	OMIM:619376
HP:0010938	Abnormal external nose morphology	5116	PCNT	ORPHA:2637
HP:0010938	Abnormal external nose morphology	84700	MYO18B	OMIM:616549
HP:0010938	Abnormal external nose morphology	55835	CPAP	OMIM:613676
HP:0010938	Abnormal external nose morphology	5965	RECQL	OMIM:620370
HP:0010938	Abnormal external nose morphology	1387	CREBBP	OMIM:618332
HP:0010938	Abnormal external nose morphology	101929726	MYMX	OMIM:619941
HP:0010938	Abnormal external nose morphology	672	BRCA1	OMIM:617883
HP:0010938	Abnormal external nose morphology	4921	DDR2	OMIM:618175
HP:0010938	Abnormal external nose morphology	6878	TAF6	OMIM:617126
HP:0010938	Abnormal external nose morphology	51053	GMNN	OMIM:616835
HP:0010938	Abnormal external nose morphology	1642	DDB1	OMIM:619426
HP:0010938	Abnormal external nose morphology	7319	UBE2A	ORPHA:163956
HP:0010938	Abnormal external nose morphology	6664	SOX11	OMIM:615866
HP:0010938	Abnormal external nose morphology	7227	TRPS1	OMIM:190351
HP:0010938	Abnormal external nose morphology	84181	CHD6	ORPHA:2108
HP:0010938	Abnormal external nose morphology	7403	KDM6A	OMIM:147920
HP:0010938	Abnormal external nose morphology	4000	LMNA	ORPHA:740
HP:0010938	Abnormal external nose morphology	10269	ZMPSTE24	ORPHA:740
HP:0010938	Abnormal external nose morphology	6909	TBX2	OMIM:618223
HP:0010938	Abnormal external nose morphology	55120	FANCL	OMIM:614083
HP:0010938	Abnormal external nose morphology	4593	MUSK	OMIM:208150
HP:0010938	Abnormal external nose morphology	23126	POGZ	OMIM:616364
HP:0010938	Abnormal external nose morphology	2316	FLNA	ORPHA:88630
HP:0010938	Abnormal external nose morphology	2316	FLNA	OMIM:300244
HP:0010938	Abnormal external nose morphology	5557	PRIM1	OMIM:620005
HP:0010938	Abnormal external nose morphology	71	ACTG1	ORPHA:2995
HP:0010938	Abnormal external nose morphology	9839	ZEB2	ORPHA:261537
HP:0010938	Abnormal external nose morphology	9839	ZEB2	ORPHA:261552
HP:0010938	Abnormal external nose morphology	78989	COLEC11	OMIM:265050
HP:0010938	Abnormal external nose morphology	1968	EIF2S3	OMIM:300148
HP:0010938	Abnormal external nose morphology	22858	CILK1	OMIM:612651
HP:0010938	Abnormal external nose morphology	55770	EXOC2	OMIM:619306
HP:0010938	Abnormal external nose morphology	57724	EPG5	ORPHA:1493
HP:0010938	Abnormal external nose morphology	3981	LIG4	ORPHA:99812
HP:0010938	Abnormal external nose morphology	538	ATP7A	OMIM:304150
HP:0010938	Abnormal external nose morphology	256297	PTF1A	OMIM:609069
HP:0010938	Abnormal external nose morphology	91754	NEK9	OMIM:617022
HP:0010938	Abnormal external nose morphology	221496	LEMD2	OMIM:619322
HP:0010938	Abnormal external nose morphology	8882	ZPR1	OMIM:619321
HP:0010938	Abnormal external nose morphology	6905	TBCE	ORPHA:2323
HP:0010938	Abnormal external nose morphology	6905	TBCE	OMIM:241410
HP:0010938	Abnormal external nose morphology	7486	WRN	OMIM:277700
HP:0010938	Abnormal external nose morphology	7486	WRN	ORPHA:902
HP:0010938	Abnormal external nose morphology	4038	LRP4	ORPHA:3258
HP:0010938	Abnormal external nose morphology	1763	DNA2	OMIM:615807
HP:0010938	Abnormal external nose morphology	1763	DNA2	ORPHA:808
HP:0010938	Abnormal external nose morphology	51132	RLIM	OMIM:300978
HP:0010938	Abnormal external nose morphology	23511	NUP188	OMIM:618804
HP:0010938	Abnormal external nose morphology	545	ATR	OMIM:614564
HP:0010938	Abnormal external nose morphology	545	ATR	OMIM:210600
HP:0010938	Abnormal external nose morphology	545	ATR	ORPHA:808
HP:0010938	Abnormal external nose morphology	1277	COL1A1	OMIM:166210
HP:0010938	Abnormal external nose morphology	11145	PLAAT3	OMIM:620683
HP:0010938	Abnormal external nose morphology	157680	VPS13B	OMIM:216550
HP:0010938	Abnormal external nose morphology	444	ASPH	OMIM:601552
HP:0010938	Abnormal external nose morphology	5424	POLD1	OMIM:615381
HP:0010938	Abnormal external nose morphology	29980	DONSON	OMIM:617604
HP:0010938	Abnormal external nose morphology	29980	DONSON	OMIM:251230
HP:0010938	Abnormal external nose morphology	7468	NSD2	OMIM:194190
HP:0010938	Abnormal external nose morphology	1487	CTBP1	OMIM:194190
HP:0010938	Abnormal external nose morphology	53834	FGFRL1	OMIM:194190
HP:0010938	Abnormal external nose morphology	3954	LETM1	OMIM:194190
HP:0010938	Abnormal external nose morphology	3590	IL11RA	OMIM:614188
HP:0010938	Abnormal external nose morphology	29957	SLC25A24	OMIM:612289
HP:0010938	Abnormal external nose morphology	80152	CENPT	OMIM:618702
HP:0010938	Abnormal external nose morphology	5159	PDGFRB	OMIM:601812
HP:0010938	Abnormal external nose morphology	28952	CCDC22	OMIM:300963
HP:0010938	Abnormal external nose morphology	10293	TRAIP	OMIM:616777
HP:0010938	Abnormal external nose morphology	10293	TRAIP	ORPHA:808
HP:0010938	Abnormal external nose morphology	22995	CEP152	OMIM:613823
HP:0010938	Abnormal external nose morphology	22995	CEP152	ORPHA:808
HP:0010938	Abnormal external nose morphology	113246	C12orf57	OMIM:218340
HP:0010938	Abnormal external nose morphology	81031	SLC2A10	OMIM:208050
HP:0010938	Abnormal external nose morphology	9319	TRIP13	OMIM:617598
HP:0010938	Abnormal external nose morphology	51360	MBTPS2	ORPHA:85284
HP:0010938	Abnormal external nose morphology	8815	BANF1	OMIM:614008
HP:0010938	Abnormal external nose morphology	1062	CENPE	ORPHA:808
HP:0010938	Abnormal external nose morphology	5932	RBBP8	ORPHA:808
HP:0010938	Abnormal external nose morphology	79902	NUP85	ORPHA:808
HP:0010938	Abnormal external nose morphology	84126	ATRIP	ORPHA:808
HP:0010938	Abnormal external nose morphology	4683	NBN	ORPHA:647
HP:0010938	Abnormal external nose morphology	1513	CTSK	ORPHA:763
HP:0010938	Abnormal external nose morphology	860	RUNX2	OMIM:156510
HP:0010938	Abnormal external nose morphology	4212	MEIS2	ORPHA:261190
HP:0010938	Abnormal external nose morphology	10535	RNASEH2A	OMIM:610333
HP:0010938	Abnormal external nose morphology	10535	RNASEH2A	ORPHA:51
HP:0010938	Abnormal external nose morphology	84153	RNASEH2C	ORPHA:51
HP:0010938	Abnormal external nose morphology	25939	SAMHD1	ORPHA:51
HP:0010938	Abnormal external nose morphology	79621	RNASEH2B	ORPHA:51
HP:0010938	Abnormal external nose morphology	103	ADAR	ORPHA:51
HP:0010938	Abnormal external nose morphology	11277	TREX1	ORPHA:51
HP:0010938	Abnormal external nose morphology	100147744	RNU7-1	ORPHA:51
HP:0010938	Abnormal external nose morphology	134353	LSM11	ORPHA:51
HP:0010938	Abnormal external nose morphology	64135	IFIH1	ORPHA:51
HP:0010938	Abnormal external nose morphology	5160	PDHA1	OMIM:312170
HP:0010938	Abnormal external nose morphology	998	CDC42	ORPHA:487796
HP:0010938	Abnormal external nose morphology	998	CDC42	OMIM:616737
HP:0010938	Abnormal external nose morphology	23261	CAMTA1	OMIM:614756
HP:0010938	Abnormal external nose morphology	8239	USP9X	ORPHA:480880
HP:0010938	Abnormal external nose morphology	26057	ANKRD17	OMIM:619504
HP:0010938	Abnormal external nose morphology	64093	SMOC1	OMIM:206920
HP:0010938	Abnormal external nose morphology	79184	BRCC3	ORPHA:280679
HP:0010938	Abnormal external nose morphology	6925	TCF4	OMIM:610954
HP:0010938	Abnormal external nose morphology	324	APC	ORPHA:261584
HP:0010938	Abnormal external nose morphology	84282	RNF135	ORPHA:137634
HP:0010938	Abnormal external nose morphology	7021	TFAP2B	OMIM:169100
HP:0010938	Abnormal external nose morphology	29072	SETD2	OMIM:620157
HP:0010938	Abnormal external nose morphology	29072	SETD2	OMIM:620155
HP:0010938	Abnormal external nose morphology	7175	TPR	OMIM:620393
HP:0010938	Abnormal external nose morphology	7994	KAT6A	ORPHA:457193
HP:0010938	Abnormal external nose morphology	7994	KAT6A	OMIM:616268
HP:0010938	Abnormal external nose morphology	114034	TOE1	OMIM:614969
HP:0010938	Abnormal external nose morphology	23325	WASHC4	OMIM:615817
HP:0010938	Abnormal external nose morphology	7020	TFAP2A	OMIM:113620
HP:0010938	Abnormal external nose morphology	7020	TFAP2A	ORPHA:1297
HP:0010938	Abnormal external nose morphology	9653	HS2ST1	OMIM:619194
HP:0010938	Abnormal external nose morphology	29081	METTL5	OMIM:618665
HP:0010938	Abnormal external nose morphology	8558	CDK10	OMIM:617694
HP:0010938	Abnormal external nose morphology	8364	H4C3	OMIM:619758
HP:0010938	Abnormal external nose morphology	4036	LRP2	OMIM:222448
HP:0010938	Abnormal external nose morphology	79718	TBL1XR1	OMIM:602342
HP:0010938	Abnormal external nose morphology	57459	GATAD2B	ORPHA:363686
HP:0010938	Abnormal external nose morphology	57459	GATAD2B	OMIM:615074
HP:0010938	Abnormal external nose morphology	27086	FOXP1	ORPHA:391372
HP:0010938	Abnormal external nose morphology	27086	FOXP1	OMIM:613670
HP:0010938	Abnormal external nose morphology	81887	LAS1L	ORPHA:3459
HP:0010938	Abnormal external nose morphology	23219	FBXO28	OMIM:619777
HP:0010938	Abnormal external nose morphology	257	ALX3	OMIM:136760
HP:0010938	Abnormal external nose morphology	6261	RYR1	OMIM:619542
HP:0010938	Abnormal external nose morphology	3480	IGF1R	ORPHA:73273
HP:0010938	Abnormal external nose morphology	11133	KPTN	OMIM:615637
HP:0010938	Abnormal external nose morphology	6418	SET	OMIM:618106
HP:0010938	Abnormal external nose morphology	4076	CAPRIN1	OMIM:620782
HP:0010938	Abnormal external nose morphology	5575	PRKAR1B	OMIM:619680
HP:0010938	Abnormal external nose morphology	5515	PPP2CA	OMIM:618354
HP:0010938	Abnormal external nose morphology	57511	COG6	ORPHA:363523
HP:0010938	Abnormal external nose morphology	55784	MCTP2	ORPHA:1596
HP:0010938	Abnormal external nose morphology	112939	NACC1	ORPHA:500545
HP:0010938	Abnormal external nose morphology	112939	NACC1	OMIM:617393
HP:0010938	Abnormal external nose morphology	5915	RARB	OMIM:615524
HP:0010938	Abnormal external nose morphology	2720	GLB1	ORPHA:79255
HP:0010938	Abnormal external nose morphology	4750	NEK1	OMIM:252100
HP:0010938	Abnormal external nose morphology	4052	LTBP1	OMIM:619451
HP:0010938	Abnormal external nose morphology	51305	KCNK9	ORPHA:166108
HP:0010938	Abnormal external nose morphology	64864	RFX7	OMIM:620330
HP:0010938	Abnormal external nose morphology	11198	SUPT16H	OMIM:619480
HP:0010938	Abnormal external nose morphology	54880	BCOR	OMIM:300166
HP:0010938	Abnormal external nose morphology	55252	ASXL2	OMIM:617190
HP:0010938	Abnormal external nose morphology	7518	XRCC4	OMIM:616541
HP:0010938	Abnormal external nose morphology	178	AGL	OMIM:232400
HP:0010938	Abnormal external nose morphology	51780	KDM3B	OMIM:618846
HP:0010938	Abnormal external nose morphology	2186	BPTF	OMIM:617755
HP:0010938	Abnormal external nose morphology	23133	PHF8	ORPHA:85287
HP:0010938	Abnormal external nose morphology	23133	PHF8	OMIM:300263
HP:0010938	Abnormal external nose morphology	170692	ADAMTS18	OMIM:615458
HP:0010938	Abnormal external nose morphology	10210	TOPORS	ORPHA:2754
HP:0010938	Abnormal external nose morphology	374654	KIF7	ORPHA:2754
HP:0010938	Abnormal external nose morphology	11011	TLK2	OMIM:618050
HP:0010938	Abnormal external nose morphology	10736	SIX2	ORPHA:488437
HP:0010938	Abnormal external nose morphology	25886	POC1A	OMIM:614813
HP:0010938	Abnormal external nose morphology	1947	EFNB1	OMIM:304110
HP:0010938	Abnormal external nose morphology	9758	FRMPD4	OMIM:300983
HP:0010938	Abnormal external nose morphology	3313	HSPA9	OMIM:616854
HP:0010938	Abnormal external nose morphology	9342	SNAP29	ORPHA:66631
HP:0010938	Abnormal external nose morphology	10157	AASS	ORPHA:2203
HP:0010938	Abnormal external nose morphology	6662	SOX9	OMIM:114290
HP:0010938	Abnormal external nose morphology	4125	MAN2B1	OMIM:248500
HP:0010938	Abnormal external nose morphology	80324	PUS1	OMIM:600462
HP:0010938	Abnormal external nose morphology	84314	TMEM107	ORPHA:564
HP:0010938	Abnormal external nose morphology	57096	RPGRIP1	ORPHA:564
HP:0010938	Abnormal external nose morphology	9184	BUB3	ORPHA:1052
HP:0010938	Abnormal external nose morphology	699	BUB1	ORPHA:1052
HP:0010938	Abnormal external nose morphology	2688	GH1	OMIM:262400
HP:0010938	Abnormal external nose morphology	10013	HDAC6	OMIM:300863
HP:0010938	Abnormal external nose morphology	10013	HDAC6	ORPHA:163966
HP:0010938	Abnormal external nose morphology	6491	STIL	ORPHA:93926
HP:0010938	Abnormal external nose morphology	6491	STIL	ORPHA:93924
HP:0010938	Abnormal external nose morphology	6491	STIL	ORPHA:93925
HP:0010938	Abnormal external nose morphology	6491	STIL	ORPHA:220386
HP:0010938	Abnormal external nose morphology	51715	RAB23	ORPHA:65759
HP:0010938	Abnormal external nose morphology	26227	PHGDH	OMIM:256520
HP:0010938	Abnormal external nose morphology	5979	RET	ORPHA:1848
HP:0010938	Abnormal external nose morphology	8516	ITGA8	ORPHA:1848
HP:0010938	Abnormal external nose morphology	26281	FGF20	ORPHA:1848
HP:0010938	Abnormal external nose morphology	2674	GFRA1	ORPHA:1848
HP:0010938	Abnormal external nose morphology	7484	WNT9B	ORPHA:1848
HP:0010938	Abnormal external nose morphology	80000	GREB1L	ORPHA:1848
HP:0010938	Abnormal external nose morphology	5590	PRKCZ	ORPHA:1606
HP:0010938	Abnormal external nose morphology	2563	GABRD	ORPHA:1606
HP:0010938	Abnormal external nose morphology	8510	MMP23B	ORPHA:1606
HP:0010938	Abnormal external nose morphology	7798	LUZP1	ORPHA:1606
HP:0010938	Abnormal external nose morphology	10630	PDPN	ORPHA:1606
HP:0010938	Abnormal external nose morphology	3339	HSPG2	ORPHA:1606
HP:0010938	Abnormal external nose morphology	10277	UBE4B	ORPHA:1606
HP:0010938	Abnormal external nose morphology	8514	KCNAB2	ORPHA:1606
HP:0010938	Abnormal external nose morphology	63976	PRDM16	ORPHA:1606
HP:0010938	Abnormal external nose morphology	54897	CASZ1	ORPHA:1606
HP:0010938	Abnormal external nose morphology	5184	PEPD	ORPHA:742
HP:0010938	Abnormal external nose morphology	5626	PROP1	ORPHA:95494
HP:0010938	Abnormal external nose morphology	5626	PROP1	ORPHA:90695
HP:0010938	Abnormal external nose morphology	89884	LHX4	ORPHA:95494
HP:0010938	Abnormal external nose morphology	3170	FOXA2	ORPHA:95494
HP:0010938	Abnormal external nose morphology	8820	HESX1	ORPHA:95494
HP:0010938	Abnormal external nose morphology	5015	OTX2	ORPHA:95494
HP:0010938	Abnormal external nose morphology	60401	EDA2R	ORPHA:181
HP:0010938	Abnormal external nose morphology	26154	ABCA12	ORPHA:457
HP:0010938	Abnormal external nose morphology	199221	DZIP1L	ORPHA:731
HP:0010938	Abnormal external nose morphology	5314	PKHD1	ORPHA:731
HP:0010938	Abnormal external nose morphology	3930	LBR	OMIM:215140
HP:0010938	Abnormal external nose morphology	6223	RPS19	OMIM:105650
HP:0010938	Abnormal external nose morphology	5781	PTPN11	OMIM:151100
HP:0010938	Abnormal external nose morphology	29968	PSAT1	OMIM:616038
HP:0010938	Abnormal external nose morphology	5081	PAX7	OMIM:618578
HP:0010938	Abnormal external nose morphology	1134	CHRNA1	OMIM:253290
HP:0010938	Abnormal external nose morphology	1146	CHRNG	OMIM:253290
HP:0010938	Abnormal external nose morphology	1144	CHRND	OMIM:253290
HP:0010938	Abnormal external nose morphology	2690	GHR	ORPHA:633
HP:0010938	Abnormal external nose morphology	6658	SOX3	ORPHA:90695
HP:0010938	Abnormal external nose morphology	7189	TRAF6	ORPHA:1810
HP:0010938	Abnormal external nose morphology	128178	EDARADD	ORPHA:1810
HP:0010938	Abnormal external nose morphology	126695	KDF1	ORPHA:1810
HP:0010938	Abnormal external nose morphology	10913	EDAR	ORPHA:1810
HP:0010938	Abnormal external nose morphology	168667	BMPER	OMIM:608022
HP:0010938	Abnormal external nose morphology	2137	EXTL3	ORPHA:508533
HP:0010938	Abnormal external nose morphology	2137	EXTL3	OMIM:617425
HP:0010938	Abnormal external nose morphology	1718	DHCR24	OMIM:602398
HP:0010938	Abnormal external nose morphology	8367	H4C5	OMIM:619950
HP:0010938	Abnormal external nose morphology	6659	SOX4	OMIM:618506
HP:0010938	Abnormal external nose morphology	6659	SOX4	ORPHA:1465
HP:0010938	Abnormal external nose morphology	9820	CUL7	ORPHA:2616
HP:0010938	Abnormal external nose morphology	9820	CUL7	OMIM:273750
HP:0010938	Abnormal external nose morphology	23363	OBSL1	ORPHA:2616
HP:0010938	Abnormal external nose morphology	23363	OBSL1	OMIM:612921
HP:0010938	Abnormal external nose morphology	83987	CCDC8	ORPHA:2616
HP:0010938	Abnormal external nose morphology	83987	CCDC8	OMIM:614205
HP:0010938	Abnormal external nose morphology	10973	ASCC3	OMIM:620700
HP:0010938	Abnormal external nose morphology	81857	MED25	OMIM:616449
HP:0010938	Abnormal external nose morphology	81857	MED25	ORPHA:464738
HP:0010938	Abnormal external nose morphology	5927	KDM5A	OMIM:620820
HP:0010938	Abnormal external nose morphology	5457	POU4F1	ORPHA:314647
HP:0010938	Abnormal external nose morphology	55209	SETD5	ORPHA:404440
HP:0010938	Abnormal external nose morphology	55209	SETD5	OMIM:615761
HP:0010938	Abnormal external nose morphology	116931	MED12L	OMIM:618872
HP:0010938	Abnormal external nose morphology	9578	CDC42BPB	OMIM:619841
HP:0010938	Abnormal external nose morphology	10300	KATNB1	OMIM:616212
HP:0010938	Abnormal external nose morphology	6536	SLC6A9	OMIM:617301
HP:0010938	Abnormal external nose morphology	51741	WWOX	OMIM:616211
HP:0010938	Abnormal external nose morphology	1855	DVL1	OMIM:616331
HP:0010938	Abnormal external nose morphology	1855	DVL1	OMIM:180700
HP:0010938	Abnormal external nose morphology	1855	DVL1	ORPHA:3107
HP:0010938	Abnormal external nose morphology	55790	CSGALNACT1	OMIM:618870
HP:0010938	Abnormal external nose morphology	55790	CSGALNACT1	ORPHA:1425
HP:0010938	Abnormal external nose morphology	5830	PEX5	OMIM:202370
HP:0010938	Abnormal external nose morphology	5830	PEX5	ORPHA:44
HP:0010938	Abnormal external nose morphology	23322	RPGRIP1L	ORPHA:220497
HP:0010938	Abnormal external nose morphology	23322	RPGRIP1L	ORPHA:1454
HP:0010938	Abnormal external nose morphology	4867	NPHP1	ORPHA:220497
HP:0010938	Abnormal external nose morphology	65062	TMEM237	ORPHA:220497
HP:0010938	Abnormal external nose morphology	65062	TMEM237	ORPHA:475
HP:0010938	Abnormal external nose morphology	65062	TMEM237	ORPHA:2318
HP:0010938	Abnormal external nose morphology	79639	TMEM53	OMIM:619727
HP:0010938	Abnormal external nose morphology	72	ACTG2	ORPHA:2604
HP:0010938	Abnormal external nose morphology	54806	AHI1	ORPHA:220493
HP:0010938	Abnormal external nose morphology	54806	AHI1	ORPHA:475
HP:0010938	Abnormal external nose morphology	54806	AHI1	OMIM:608629
HP:0010938	Abnormal external nose morphology	56623	INPP5E	ORPHA:220493
HP:0010938	Abnormal external nose morphology	56623	INPP5E	ORPHA:475
HP:0010938	Abnormal external nose morphology	56623	INPP5E	OMIM:213300
HP:0010938	Abnormal external nose morphology	56623	INPP5E	ORPHA:1454
HP:0010938	Abnormal external nose morphology	153241	CEP120	ORPHA:220493
HP:0010938	Abnormal external nose morphology	153241	CEP120	ORPHA:475
HP:0010938	Abnormal external nose morphology	54903	MKS1	ORPHA:220493
HP:0010938	Abnormal external nose morphology	54903	MKS1	ORPHA:475
HP:0010938	Abnormal external nose morphology	95681	CEP41	ORPHA:220493
HP:0010938	Abnormal external nose morphology	95681	CEP41	ORPHA:475
HP:0010938	Abnormal external nose morphology	5728	PTEN	ORPHA:2969
HP:0010938	Abnormal external nose morphology	5728	PTEN	ORPHA:109
HP:0010938	Abnormal external nose morphology	129563	DIS3L2	ORPHA:2849
HP:0010938	Abnormal external nose morphology	3764	KCNJ8	ORPHA:1517
HP:0010938	Abnormal external nose morphology	10060	ABCC9	ORPHA:1517
HP:0010938	Abnormal external nose morphology	10060	ABCC9	OMIM:239850
HP:0010938	Abnormal external nose morphology	79158	GNPTAB	OMIM:252500
HP:0010938	Abnormal external nose morphology	57539	WDR35	ORPHA:1515
HP:0010938	Abnormal external nose morphology	112752	IFT43	ORPHA:1515
HP:0010938	Abnormal external nose morphology	51098	IFT52	ORPHA:1515
HP:0010938	Abnormal external nose morphology	55764	IFT122	ORPHA:1515
HP:0010938	Abnormal external nose morphology	55764	IFT122	OMIM:218330
HP:0010938	Abnormal external nose morphology	57728	WDR19	ORPHA:1515
HP:0010938	Abnormal external nose morphology	57728	WDR19	OMIM:614378
HP:0010938	Abnormal external nose morphology	5189	PEX1	OMIM:214100
HP:0010938	Abnormal external nose morphology	5189	PEX1	ORPHA:44
HP:0010938	Abnormal external nose morphology	2260	FGFR1	ORPHA:280200
HP:0010938	Abnormal external nose morphology	2260	FGFR1	OMIM:166250
HP:0010938	Abnormal external nose morphology	2260	FGFR1	ORPHA:2645
HP:0010938	Abnormal external nose morphology	28514	DLL1	ORPHA:280200
HP:0010938	Abnormal external nose morphology	2253	FGF8	ORPHA:280200
HP:0010938	Abnormal external nose morphology	6496	SIX3	ORPHA:280200
HP:0010938	Abnormal external nose morphology	7050	TGIF1	ORPHA:280200
HP:0010938	Abnormal external nose morphology	4838	NODAL	ORPHA:280200
HP:0010938	Abnormal external nose morphology	6469	SHH	ORPHA:280200
HP:0010938	Abnormal external nose morphology	51684	SUFU	ORPHA:280200
HP:0010938	Abnormal external nose morphology	51684	SUFU	ORPHA:475
HP:0010938	Abnormal external nose morphology	7546	ZIC2	ORPHA:280200
HP:0010938	Abnormal external nose morphology	7546	ZIC2	OMIM:609637
HP:0010938	Abnormal external nose morphology	2619	GAS1	ORPHA:280200
HP:0010938	Abnormal external nose morphology	84976	DISP1	ORPHA:280200
HP:0010938	Abnormal external nose morphology	2736	GLI2	ORPHA:280200
HP:0010938	Abnormal external nose morphology	8928	FOXH1	ORPHA:280200
HP:0010938	Abnormal external nose morphology	6997	CRIPTO	ORPHA:280200
HP:0010938	Abnormal external nose morphology	5727	PTCH1	ORPHA:280200
HP:0010938	Abnormal external nose morphology	50937	CDON	ORPHA:280200
HP:0010938	Abnormal external nose morphology	6023	RMRP	ORPHA:175
HP:0010938	Abnormal external nose morphology	57589	RIC1	OMIM:618761
HP:0010938	Abnormal external nose morphology	79868	ALG13	ORPHA:324422
HP:0010938	Abnormal external nose morphology	79868	ALG13	OMIM:300884
HP:0010938	Abnormal external nose morphology	317662	FAM149B1	OMIM:618763
HP:0010938	Abnormal external nose morphology	55870	ASH1L	OMIM:617796
HP:0010938	Abnormal external nose morphology	25885	POLR1A	OMIM:616462
HP:0010938	Abnormal external nose morphology	10606	PAICS	OMIM:619859
HP:0010938	Abnormal external nose morphology	11232	POLG2	OMIM:618528
HP:0010938	Abnormal external nose morphology	4853	NOTCH2	OMIM:102500
HP:0010938	Abnormal external nose morphology	4853	NOTCH2	ORPHA:955
HP:0010938	Abnormal external nose morphology	64359	NXN	OMIM:618529
HP:0010938	Abnormal external nose morphology	64359	NXN	ORPHA:1507
HP:0010938	Abnormal external nose morphology	9326	ZNHIT3	ORPHA:2836
HP:0010938	Abnormal external nose morphology	2770	GNAI1	OMIM:619854
HP:0010938	Abnormal external nose morphology	4920	ROR2	ORPHA:1507
HP:0010938	Abnormal external nose morphology	4920	ROR2	OMIM:268310
HP:0010938	Abnormal external nose morphology	1302	COL11A2	OMIM:184840
HP:0010938	Abnormal external nose morphology	1302	COL11A2	ORPHA:2021
HP:0010938	Abnormal external nose morphology	1302	COL11A2	OMIM:614524
HP:0010938	Abnormal external nose morphology	1302	COL11A2	OMIM:215150
HP:0010938	Abnormal external nose morphology	1302	COL11A2	ORPHA:1427
HP:0010938	Abnormal external nose morphology	6872	TAF1	ORPHA:480907
HP:0010938	Abnormal external nose morphology	6872	TAF1	OMIM:300966
HP:0010938	Abnormal external nose morphology	171023	ASXL1	ORPHA:97297
HP:0010938	Abnormal external nose morphology	171023	ASXL1	OMIM:605039
HP:0010938	Abnormal external nose morphology	10484	SEC23A	OMIM:607812
HP:0010938	Abnormal external nose morphology	10087	CERT1	OMIM:616351
HP:0010938	Abnormal external nose morphology	54968	TMEM70	OMIM:614052
HP:0010938	Abnormal external nose morphology	4330	MN1	OMIM:618774
HP:0010938	Abnormal external nose morphology	5442	POLRMT	OMIM:619743
HP:0010938	Abnormal external nose morphology	1301	COL11A1	OMIM:228520
HP:0010938	Abnormal external nose morphology	1301	COL11A1	OMIM:604841
HP:0010938	Abnormal external nose morphology	1301	COL11A1	ORPHA:560
HP:0010938	Abnormal external nose morphology	1301	COL11A1	OMIM:154780
HP:0010938	Abnormal external nose morphology	1301	COL11A1	ORPHA:2021
HP:0010938	Abnormal external nose morphology	57231	SNX14	OMIM:616354
HP:0010938	Abnormal external nose morphology	23327	NEDD4L	OMIM:617201
HP:0010938	Abnormal external nose morphology	8036	SHOC2	ORPHA:2701
HP:0010938	Abnormal external nose morphology	26040	SETBP1	OMIM:269150
HP:0010938	Abnormal external nose morphology	8241	RBM10	OMIM:311900
HP:0010938	Abnormal external nose morphology	8241	RBM10	ORPHA:2886
HP:0010938	Abnormal external nose morphology	57167	SALL4	ORPHA:233
HP:0010938	Abnormal external nose morphology	9935	MAFB	ORPHA:233
HP:0010938	Abnormal external nose morphology	1123	CHN1	ORPHA:233
HP:0010938	Abnormal external nose morphology	9851	KIAA0753	ORPHA:475
HP:0010938	Abnormal external nose morphology	9851	KIAA0753	OMIM:617127
HP:0010938	Abnormal external nose morphology	5147	PDE6D	ORPHA:475
HP:0010938	Abnormal external nose morphology	79600	TCTN1	ORPHA:475
HP:0010938	Abnormal external nose morphology	79848	CSPP1	ORPHA:475
HP:0010938	Abnormal external nose morphology	65250	CPLANE1	ORPHA:475
HP:0010938	Abnormal external nose morphology	91147	TMEM67	ORPHA:475
HP:0010938	Abnormal external nose morphology	91147	TMEM67	OMIM:216360
HP:0010938	Abnormal external nose morphology	91147	TMEM67	ORPHA:1454
HP:0010938	Abnormal external nose morphology	200894	ARL13B	ORPHA:475
HP:0010938	Abnormal external nose morphology	9731	CEP104	ORPHA:475
HP:0010938	Abnormal external nose morphology	219844	HYLS1	ORPHA:475
HP:0010938	Abnormal external nose morphology	23247	KATNIP	ORPHA:475
HP:0010938	Abnormal external nose morphology	23247	KATNIP	OMIM:616784
HP:0010938	Abnormal external nose morphology	219854	TMEM218	ORPHA:475
HP:0010938	Abnormal external nose morphology	9786	KIAA0586	ORPHA:475
HP:0010938	Abnormal external nose morphology	26123	TCTN3	ORPHA:475
HP:0010938	Abnormal external nose morphology	79867	TCTN2	ORPHA:475
HP:0010938	Abnormal external nose morphology	80776	B9D2	ORPHA:475
HP:0010938	Abnormal external nose morphology	10464	PIBF1	ORPHA:475
HP:0010938	Abnormal external nose morphology	80210	ARMC9	ORPHA:475
HP:0010938	Abnormal external nose morphology	23116	TOGARAM1	ORPHA:475
HP:0010938	Abnormal external nose morphology	23116	TOGARAM1	OMIM:619185
HP:0010938	Abnormal external nose morphology	25776	CBY1	ORPHA:475
HP:0010938	Abnormal external nose morphology	27077	B9D1	ORPHA:475
HP:0010938	Abnormal external nose morphology	403	ARL3	ORPHA:475
HP:0010938	Abnormal external nose morphology	403	ARL3	OMIM:618161
HP:0010938	Abnormal external nose morphology	80173	IFT74	ORPHA:475
HP:0010938	Abnormal external nose morphology	1789	DNMT3B	OMIM:242860
HP:0010938	Abnormal external nose morphology	5518	PPP2R1A	OMIM:616362
HP:0010938	Abnormal external nose morphology	5518	PPP2R1A	ORPHA:457284
HP:0010938	Abnormal external nose morphology	253738	EBF3	OMIM:617330
HP:0010938	Abnormal external nose morphology	55768	NGLY1	OMIM:615273
HP:0010938	Abnormal external nose morphology	8493	PPM1D	OMIM:617450
HP:0010938	Abnormal external nose morphology	85301	COL27A1	OMIM:615155
HP:0010938	Abnormal external nose morphology	51604	PIGT	OMIM:615398
HP:0010938	Abnormal external nose morphology	5792	PTPRF	OMIM:616001
HP:0010938	Abnormal external nose morphology	3572	IL6ST	OMIM:619750
HP:0010938	Abnormal external nose morphology	4613	MYCN	OMIM:620748
HP:0010938	Abnormal external nose morphology	4613	MYCN	OMIM:164280
HP:0010938	Abnormal external nose morphology	3845	KRAS	OMIM:615278
HP:0010938	Abnormal external nose morphology	3845	KRAS	ORPHA:3339
HP:0010938	Abnormal external nose morphology	3845	KRAS	ORPHA:1340
HP:0010938	Abnormal external nose morphology	3845	KRAS	OMIM:609942
HP:0010938	Abnormal external nose morphology	27125	AFF4	OMIM:616368
HP:0010938	Abnormal external nose morphology	27125	AFF4	ORPHA:444077
HP:0010938	Abnormal external nose morphology	57282	SLC4A10	OMIM:620746
HP:0010938	Abnormal external nose morphology	9841	ZBTB24	OMIM:614069
HP:0010938	Abnormal external nose morphology	51692	CPSF3	OMIM:619876
HP:0010938	Abnormal external nose morphology	3098	HK1	OMIM:618547
HP:0010938	Abnormal external nose morphology	79770	TXNDC15	OMIM:619879
HP:0010938	Abnormal external nose morphology	9091	PIGQ	OMIM:618548
HP:0010938	Abnormal external nose morphology	9091	PIGQ	ORPHA:1934
HP:0010938	Abnormal external nose morphology	285362	SUMF1	OMIM:272200
HP:0010938	Abnormal external nose morphology	285362	SUMF1	ORPHA:585
HP:0010938	Abnormal external nose morphology	26137	ZBTB20	OMIM:259050
HP:0010938	Abnormal external nose morphology	8314	BAP1	OMIM:619762
HP:0010938	Abnormal external nose morphology	7750	ZMYM2	OMIM:619522
HP:0010938	Abnormal external nose morphology	8733	GPAA1	ORPHA:529665
HP:0010938	Abnormal external nose morphology	8733	GPAA1	OMIM:617810
HP:0010938	Abnormal external nose morphology	253959	RALGAPA1	OMIM:618797
HP:0010938	Abnormal external nose morphology	53335	BCL11A	OMIM:617101
HP:0010938	Abnormal external nose morphology	4849	CNOT3	OMIM:618672
HP:0010938	Abnormal external nose morphology	4285	MIPEP	OMIM:617228
HP:0010938	Abnormal external nose morphology	9928	KIF14	OMIM:616258
HP:0010938	Abnormal external nose morphology	2263	FGFR2	OMIM:123790
HP:0010938	Abnormal external nose morphology	2263	FGFR2	OMIM:101200
HP:0010938	Abnormal external nose morphology	2263	FGFR2	ORPHA:1555
HP:0010938	Abnormal external nose morphology	9772	TMEM94	OMIM:618316
HP:0010938	Abnormal external nose morphology	25973	PARS2	OMIM:618437
HP:0010938	Abnormal external nose morphology	79971	WLS	OMIM:619648
HP:0010938	Abnormal external nose morphology	56975	FAM20C	ORPHA:1832
HP:0010938	Abnormal external nose morphology	2271	FH	OMIM:606812
HP:0010938	Abnormal external nose morphology	4208	MEF2C	ORPHA:228384
HP:0010938	Abnormal external nose morphology	4208	MEF2C	OMIM:613443
HP:0010938	Abnormal external nose morphology	5373	PMM2	ORPHA:79318
HP:0010938	Abnormal external nose morphology	23556	PIGN	OMIM:614080
HP:0010938	Abnormal external nose morphology	23556	PIGN	ORPHA:2059
HP:0010938	Abnormal external nose morphology	23556	PIGN	ORPHA:280633
HP:0010938	Abnormal external nose morphology	2239	GPC4	ORPHA:373
HP:0010938	Abnormal external nose morphology	2239	GPC4	OMIM:312870
HP:0010938	Abnormal external nose morphology	2719	GPC3	ORPHA:373
HP:0010938	Abnormal external nose morphology	2719	GPC3	OMIM:312870
HP:0010938	Abnormal external nose morphology	23007	PLCH1	OMIM:619895
HP:0010938	Abnormal external nose morphology	23162	MAPK8IP3	OMIM:618443
HP:0010938	Abnormal external nose morphology	54941	RNF125	OMIM:616260
HP:0010938	Abnormal external nose morphology	79989	IFT56	OMIM:619534
HP:0010938	Abnormal external nose morphology	84168	ANTXR1	OMIM:230740
HP:0010938	Abnormal external nose morphology	84168	ANTXR1	ORPHA:2067
HP:0010938	Abnormal external nose morphology	25836	NIPBL	OMIM:122470
HP:0010938	Abnormal external nose morphology	25836	NIPBL	ORPHA:199
HP:0010938	Abnormal external nose morphology	6513	SLC2A1	ORPHA:1942
HP:0010938	Abnormal external nose morphology	8831	SYNGAP1	ORPHA:1942
HP:0010938	Abnormal external nose morphology	1173	AP2M1	ORPHA:1942
HP:0010938	Abnormal external nose morphology	6323	SCN1A	ORPHA:1942
HP:0010938	Abnormal external nose morphology	1106	CHD2	ORPHA:1942
HP:0010938	Abnormal external nose morphology	6529	SLC6A1	ORPHA:1942
HP:0010938	Abnormal external nose morphology	9896	FIG4	OMIM:216340
HP:0010938	Abnormal external nose morphology	9896	FIG4	ORPHA:3472
HP:0010938	Abnormal external nose morphology	8295	TRRAP	OMIM:618454
HP:0010938	Abnormal external nose morphology	5881	RAC3	OMIM:618577
HP:0010938	Abnormal external nose morphology	9427	ECEL1	OMIM:615065
HP:0010938	Abnormal external nose morphology	5587	PRKD1	OMIM:617364
HP:0010938	Abnormal external nose morphology	51013	EXOSC1	OMIM:619304
HP:0010938	Abnormal external nose morphology	27145	FILIP1	OMIM:620775
HP:0010938	Abnormal external nose morphology	6792	CDKL5	ORPHA:1934
HP:0010938	Abnormal external nose morphology	6792	CDKL5	OMIM:300672
HP:0010938	Abnormal external nose morphology	3736	KCNA1	ORPHA:1934
HP:0010938	Abnormal external nose morphology	140679	SLC32A1	ORPHA:1934
HP:0010938	Abnormal external nose morphology	2775	GNAO1	ORPHA:1934
HP:0010938	Abnormal external nose morphology	81603	TRIM8	ORPHA:1934
HP:0010938	Abnormal external nose morphology	2902	GRIN1	ORPHA:1934
HP:0010938	Abnormal external nose morphology	79751	SLC25A22	ORPHA:1934
HP:0010938	Abnormal external nose morphology	150094	SIK1	ORPHA:1934
HP:0010938	Abnormal external nose morphology	8573	CASK	ORPHA:1934
HP:0010938	Abnormal external nose morphology	23312	DMXL2	ORPHA:1934
HP:0010938	Abnormal external nose morphology	2917	GRM7	ORPHA:1934
HP:0010938	Abnormal external nose morphology	170302	ARX	ORPHA:1934
HP:0010938	Abnormal external nose morphology	11284	PNKP	ORPHA:1934
HP:0010938	Abnormal external nose morphology	6326	SCN2A	ORPHA:1934
HP:0010938	Abnormal external nose morphology	51227	PIGP	ORPHA:1934
HP:0010938	Abnormal external nose morphology	6324	SCN1B	ORPHA:1934
HP:0010938	Abnormal external nose morphology	4761	NEUROD2	ORPHA:1934
HP:0010938	Abnormal external nose morphology	389827	MYMK	OMIM:254940
HP:0010938	Abnormal external nose morphology	389827	MYMK	ORPHA:1358
HP:0010938	Abnormal external nose morphology	2737	GLI3	ORPHA:672
HP:0010938	Abnormal external nose morphology	2737	GLI3	OMIM:146510
HP:0010938	Abnormal external nose morphology	9361	LONP1	OMIM:600373
HP:0010938	Abnormal external nose morphology	9361	LONP1	ORPHA:1458
HP:0010938	Abnormal external nose morphology	5898	RALA	OMIM:619311
HP:0010938	Abnormal external nose morphology	23013	SPEN	OMIM:619312
HP:0010938	Abnormal external nose morphology	54517	PUS7	OMIM:618342
HP:0010938	Abnormal external nose morphology	10785	WDR4	OMIM:618347
HP:0010938	Abnormal external nose morphology	2653	GCSH	OMIM:620423
HP:0010938	Abnormal external nose morphology	79813	EHMT1	ORPHA:96147
HP:0010938	Abnormal external nose morphology	79813	EHMT1	OMIM:610253
HP:0010938	Abnormal external nose morphology	55315	SLC29A3	OMIM:602782
HP:0010938	Abnormal external nose morphology	55869	HDAC8	OMIM:300882
HP:0010938	Abnormal external nose morphology	55869	HDAC8	ORPHA:199
HP:0010938	Abnormal external nose morphology	2972	BRF1	ORPHA:444072
HP:0010938	Abnormal external nose morphology	388015	RTL1	ORPHA:254528
HP:0010938	Abnormal external nose morphology	388015	RTL1	ORPHA:96184
HP:0010938	Abnormal external nose morphology	388015	RTL1	ORPHA:96334
HP:0010938	Abnormal external nose morphology	8788	DLK1	ORPHA:254528
HP:0010938	Abnormal external nose morphology	8788	DLK1	ORPHA:96184
HP:0010938	Abnormal external nose morphology	8788	DLK1	ORPHA:96334
HP:0010938	Abnormal external nose morphology	55384	MEG3	ORPHA:254528
HP:0010938	Abnormal external nose morphology	55384	MEG3	ORPHA:96184
HP:0010938	Abnormal external nose morphology	55384	MEG3	ORPHA:96334
HP:0010938	Abnormal external nose morphology	57520	HECW2	OMIM:617268
HP:0010938	Abnormal external nose morphology	23030	KDM4B	OMIM:619320
HP:0010938	Abnormal external nose morphology	6492	SIM1	ORPHA:171829
HP:0010938	Abnormal external nose morphology	23314	SATB2	ORPHA:251019
HP:0010938	Abnormal external nose morphology	23314	SATB2	OMIM:612313
HP:0010938	Abnormal external nose morphology	4081	MAB21L1	OMIM:618479
HP:0010938	Abnormal external nose morphology	4081	MAB21L1	ORPHA:495875
HP:0010938	Abnormal external nose morphology	8312	AXIN1	OMIM:620558
HP:0010938	Abnormal external nose morphology	9126	SMC3	OMIM:610759
HP:0010938	Abnormal external nose morphology	9126	SMC3	ORPHA:199
HP:0010938	Abnormal external nose morphology	79068	FTO	OMIM:612938
HP:0010938	Abnormal external nose morphology	473	RERE	ORPHA:494344
HP:0010938	Abnormal external nose morphology	473	RERE	OMIM:616975
HP:0010938	Abnormal external nose morphology	23221	RHOBTB2	OMIM:618004
HP:0010938	Abnormal external nose morphology	22930	RAB3GAP1	OMIM:600118
HP:0010938	Abnormal external nose morphology	22930	RAB3GAP1	ORPHA:2510
HP:0010938	Abnormal external nose morphology	6601	SMARCC2	OMIM:618362
HP:0010938	Abnormal external nose morphology	6601	SMARCC2	ORPHA:1465
HP:0010938	Abnormal external nose morphology	54496	PRMT7	OMIM:617157
HP:0010938	Abnormal external nose morphology	54496	PRMT7	ORPHA:464288
HP:0010938	Abnormal external nose morphology	92255	LMBRD2	OMIM:619694
HP:0010938	Abnormal external nose morphology	23476	BRD4	OMIM:620568
HP:0010938	Abnormal external nose morphology	23476	BRD4	ORPHA:199
HP:0010938	Abnormal external nose morphology	7965	AIMP2	OMIM:618006
HP:0010938	Abnormal external nose morphology	29920	PYCR2	ORPHA:481152
HP:0010938	Abnormal external nose morphology	29920	PYCR2	OMIM:616420
HP:0010938	Abnormal external nose morphology	1009	CDH11	OMIM:211380
HP:0010938	Abnormal external nose morphology	22827	PUF60	ORPHA:508488
HP:0010938	Abnormal external nose morphology	22827	PUF60	OMIM:615583
HP:0010938	Abnormal external nose morphology	2261	FGFR3	ORPHA:15
HP:0010938	Abnormal external nose morphology	80311	KLHL15	OMIM:300982
HP:0010938	Abnormal external nose morphology	6045	RNF2	OMIM:619460
HP:0010938	Abnormal external nose morphology	1781	DYNC1I2	OMIM:618492
HP:0010938	Abnormal external nose morphology	774	CACNA1B	OMIM:618497
HP:0010938	Abnormal external nose morphology	3977	LIFR	OMIM:601559
HP:0010938	Abnormal external nose morphology	5277	PIGA	OMIM:300868
HP:0010938	Abnormal external nose morphology	23384	SPECC1L	OMIM:145420
HP:0010938	Abnormal external nose morphology	5573	PRKAR1A	OMIM:101800
HP:0010938	Abnormal external nose morphology	5573	PRKAR1A	ORPHA:950
HP:0010938	Abnormal external nose morphology	9244	CRLF1	OMIM:272430
HP:0010938	Abnormal external nose morphology	9244	CRLF1	ORPHA:1545
HP:0010938	Abnormal external nose morphology	1974	EIF4A2	OMIM:620455
HP:0010938	Abnormal external nose morphology	9343	EFTUD2	OMIM:610536
HP:0010938	Abnormal external nose morphology	6611	SMS	ORPHA:3063
HP:0010938	Abnormal external nose morphology	6611	SMS	OMIM:309583
HP:0010938	Abnormal external nose morphology	5281	PIGF	OMIM:619356
HP:0010938	Abnormal external nose morphology	5977	DPF2	OMIM:618027
HP:0010938	Abnormal external nose morphology	5977	DPF2	ORPHA:1465
HP:0010938	Abnormal external nose morphology	6711	SPTBN1	OMIM:619475
HP:0010938	Abnormal external nose morphology	80036	TRPM3	OMIM:620224
HP:0010938	Abnormal external nose morphology	4796	TONSL	OMIM:271510
HP:0010938	Abnormal external nose morphology	4796	TONSL	ORPHA:93357
HP:0010938	Abnormal external nose morphology	57465	TBC1D24	ORPHA:79500
HP:0010938	Abnormal external nose morphology	57465	TBC1D24	OMIM:220500
HP:0010938	Abnormal external nose morphology	207	AKT1	ORPHA:744
HP:0010938	Abnormal external nose morphology	23405	DICER1	OMIM:618272
HP:0010938	Abnormal external nose morphology	136647	MPLKIP	OMIM:234050
HP:0010938	Abnormal external nose morphology	1457	CSNK2A1	OMIM:617062
HP:0010938	Abnormal external nose morphology	3636	INPPL1	OMIM:258480
HP:0010938	Abnormal external nose morphology	2077	ERF	OMIM:617180
HP:0010938	Abnormal external nose morphology	2571	GAD1	OMIM:619124
HP:0010938	Abnormal external nose morphology	285590	SH3PXD2B	OMIM:249420
HP:0010938	Abnormal external nose morphology	374879	ZNF699	OMIM:619488
HP:0010938	Abnormal external nose morphology	10220	GDF11	OMIM:619122
HP:0010938	Abnormal external nose morphology	9508	ADAMTS3	OMIM:618154
HP:0010938	Abnormal external nose morphology	1654	DDX3X	OMIM:300958
HP:0010938	Abnormal external nose morphology	93587	TRMT10A	ORPHA:391408
HP:0010938	Abnormal external nose morphology	84919	PPP1R15B	ORPHA:391408
HP:0010938	Abnormal external nose morphology	2799	GNS	OMIM:252940
HP:0010938	Abnormal external nose morphology	3090	HIC1	ORPHA:531
HP:0010938	Abnormal external nose morphology	5048	PAFAH1B1	ORPHA:531
HP:0010938	Abnormal external nose morphology	7531	YWHAE	ORPHA:531
HP:0010938	Abnormal external nose morphology	57020	VPS35L	OMIM:619135
HP:0010938	Abnormal external nose morphology	84231	TRAF7	OMIM:618164
HP:0010938	Abnormal external nose morphology	4781	NFIB	OMIM:618286
HP:0010938	Abnormal external nose morphology	3643	INSR	ORPHA:769
HP:0010938	Abnormal external nose morphology	84081	NSRP1	OMIM:620001
HP:0010938	Abnormal external nose morphology	7474	WNT5A	OMIM:180700
HP:0010938	Abnormal external nose morphology	7474	WNT5A	ORPHA:3107
HP:0010938	Abnormal external nose morphology	1795	DOCK3	OMIM:618292
HP:0010938	Abnormal external nose morphology	129285	PPP1R21	OMIM:619383
HP:0010938	Abnormal external nose morphology	84842	HPDL	OMIM:619026
HP:0010938	Abnormal external nose morphology	90952	ESAM	OMIM:620371
HP:0010938	Abnormal external nose morphology	5144	PDE4D	ORPHA:950
HP:0010938	Abnormal external nose morphology	5144	PDE4D	OMIM:614613
HP:0010938	Abnormal external nose morphology	8243	SMC1A	OMIM:300590
HP:0010938	Abnormal external nose morphology	8243	SMC1A	OMIM:301044
HP:0010938	Abnormal external nose morphology	8243	SMC1A	ORPHA:199
HP:0010938	Abnormal external nose morphology	10128	LRPPRC	OMIM:220111
HP:0010938	Abnormal external nose morphology	158	ADSL	OMIM:103050
HP:0010938	Abnormal external nose morphology	158	ADSL	ORPHA:46
HP:0010938	Abnormal external nose morphology	9131	AIFM1	OMIM:300232
HP:0010938	Abnormal external nose morphology	9131	AIFM1	ORPHA:83629
HP:0010938	Abnormal external nose morphology	6309	SC5D	ORPHA:46059
HP:0010938	Abnormal external nose morphology	6309	SC5D	OMIM:607330
HP:0010938	Abnormal external nose morphology	55503	TRPV6	OMIM:618188
HP:0010938	Abnormal external nose morphology	5885	RAD21	OMIM:614701
HP:0010938	Abnormal external nose morphology	5885	RAD21	ORPHA:199
HP:0010938	Abnormal external nose morphology	652	BMP4	ORPHA:828
HP:0010938	Abnormal external nose morphology	673	BRAF	OMIM:115150
HP:0010938	Abnormal external nose morphology	673	BRAF	ORPHA:1340
HP:0010938	Abnormal external nose morphology	145173	B3GLCT	ORPHA:709
HP:0010938	Abnormal external nose morphology	4774	NFIA	OMIM:613735
HP:0010938	Abnormal external nose morphology	2629	GBA1	OMIM:608013
HP:0010938	Abnormal external nose morphology	2629	GBA1	ORPHA:85212
HP:0010938	Abnormal external nose morphology	4281	MID1	OMIM:300000
HP:0010938	Abnormal external nose morphology	4281	MID1	ORPHA:2745
HP:0010938	Abnormal external nose morphology	80232	WDR26	ORPHA:513456
HP:0010938	Abnormal external nose morphology	80232	WDR26	OMIM:617616
HP:0010938	Abnormal external nose morphology	8443	GNPAT	OMIM:222765
HP:0010938	Abnormal external nose morphology	89910	UBE3B	OMIM:244450
HP:0010938	Abnormal external nose morphology	51506	UFC1	OMIM:618076
HP:0010938	Abnormal external nose morphology	9442	MED27	OMIM:619286
HP:0010938	Abnormal external nose morphology	2314	FLII	ORPHA:819
HP:0010938	Abnormal external nose morphology	23096	IQSEC2	ORPHA:819
HP:0010938	Abnormal external nose morphology	10743	RAI1	ORPHA:819
HP:0010938	Abnormal external nose morphology	10522	DEAF1	ORPHA:819
HP:0010938	Abnormal external nose morphology	1717	DHCR7	ORPHA:818
HP:0010938	Abnormal external nose morphology	1717	DHCR7	OMIM:270400
HP:0010938	Abnormal external nose morphology	10225	CD96	OMIM:211750
HP:0010938	Abnormal external nose morphology	10225	CD96	ORPHA:1308
HP:0010938	Abnormal external nose morphology	9382	COG1	OMIM:611209
HP:0010938	Abnormal external nose morphology	6197	RPS6KA3	OMIM:303600
HP:0010938	Abnormal external nose morphology	6197	RPS6KA3	ORPHA:192
HP:0010938	Abnormal external nose morphology	56992	KIF15	ORPHA:261323
HP:0010938	Abnormal external nose morphology	64324	NSD1	OMIM:117550
HP:0010938	Abnormal external nose morphology	9739	SETD1A	OMIM:619056
HP:0010938	Abnormal external nose morphology	80204	FBXO11	OMIM:618089
HP:0010938	Abnormal external nose morphology	5119	CHMP1A	OMIM:614961
HP:0010938	Abnormal external nose morphology	93627	TBCK	OMIM:616900
HP:0010938	Abnormal external nose morphology	8289	ARID1A	OMIM:614607
HP:0010938	Abnormal external nose morphology	8289	ARID1A	ORPHA:1465
HP:0010938	Abnormal external nose morphology	2200	FBN1	ORPHA:969
HP:0010938	Abnormal external nose morphology	2200	FBN1	ORPHA:2462
HP:0010938	Abnormal external nose morphology	2200	FBN1	OMIM:102370
HP:0010938	Abnormal external nose morphology	4054	LTBP3	ORPHA:969
HP:0010938	Abnormal external nose morphology	4054	LTBP3	OMIM:617809
HP:0010938	Abnormal external nose morphology	546	ATRX	ORPHA:847
HP:0010938	Abnormal external nose morphology	546	ATRX	OMIM:309580
HP:0010938	Abnormal external nose morphology	546	ATRX	OMIM:301040
HP:0010938	Abnormal external nose morphology	6598	SMARCB1	OMIM:614608
HP:0010938	Abnormal external nose morphology	6598	SMARCB1	ORPHA:1465
HP:0010938	Abnormal external nose morphology	6597	SMARCA4	OMIM:614609
HP:0010938	Abnormal external nose morphology	6597	SMARCA4	ORPHA:1465
HP:0010938	Abnormal external nose morphology	55697	VAC14	ORPHA:3472
HP:0010938	Abnormal external nose morphology	26053	AUTS2	ORPHA:352490
HP:0010938	Abnormal external nose morphology	26053	AUTS2	OMIM:615834
HP:0010938	Abnormal external nose morphology	23036	ZNF292	OMIM:619188
HP:0010938	Abnormal external nose morphology	6885	MAP3K7	OMIM:157800
HP:0010938	Abnormal external nose morphology	1954	MEGF8	OMIM:614976
HP:0010938	Abnormal external nose morphology	124512	METTL23	OMIM:615942
HP:0010938	Abnormal external nose morphology	2752	GLUL	OMIM:610015
HP:0010938	Abnormal external nose morphology	3425	IDUA	OMIM:607014
HP:0010938	Abnormal external nose morphology	3425	IDUA	ORPHA:93473
HP:0010938	Abnormal external nose morphology	3265	HRAS	OMIM:218040
HP:0010938	Abnormal external nose morphology	3265	HRAS	OMIM:137550
HP:0010938	Abnormal external nose morphology	7025	NR2F1	ORPHA:401777
HP:0010938	Abnormal external nose morphology	7025	NR2F1	OMIM:615722
HP:0010938	Abnormal external nose morphology	5063	PAK3	OMIM:300558
HP:0010938	Abnormal external nose morphology	56006	SMG9	OMIM:616920
HP:0010938	Abnormal external nose morphology	1857	DVL3	ORPHA:3107
HP:0010938	Abnormal external nose morphology	1857	DVL3	OMIM:616894
HP:0010938	Abnormal external nose morphology	2535	FZD2	ORPHA:3107
HP:0010938	Abnormal external nose morphology	285175	UNC80	OMIM:616801
HP:0010938	Abnormal external nose morphology	285175	UNC80	ORPHA:371364
HP:0010938	Abnormal external nose morphology	3211	HOXB1	OMIM:614744
HP:0010938	Abnormal external nose morphology	54499	TMCO1	OMIM:213980
HP:0010938	Abnormal external nose morphology	9719	ADAMTSL2	OMIM:231050
HP:0010938	Abnormal external nose morphology	11128	POLR3A	OMIM:264090
HP:0010938	Abnormal external nose morphology	11128	POLR3A	ORPHA:3455
HP:0010938	Abnormal external nose morphology	55165	CEP55	OMIM:236500
HP:0010938	Abnormal external nose morphology	1280	COL2A1	OMIM:108300
HP:0010938	Abnormal external nose morphology	84992	PIGY	OMIM:616809
HP:0010938	Abnormal external nose morphology	471	ATIC	OMIM:608688
HP:0010938	Abnormal external nose morphology	2006	ELN	OMIM:194050
HP:0010938	Abnormal external nose morphology	51085	MLXIPL	OMIM:194050
HP:0010938	Abnormal external nose morphology	55691	FRMD4A	OMIM:616819
HP:0010938	Abnormal external nose morphology	55691	FRMD4A	ORPHA:466688
HP:0010938	Abnormal external nose morphology	63895	PIEZO2	OMIM:248700
HP:0010938	Abnormal external nose morphology	55670	PEX26	ORPHA:44
HP:0010938	Abnormal external nose morphology	5824	PEX19	ORPHA:44
HP:0010938	Abnormal external nose morphology	5828	PEX2	ORPHA:44
HP:0010938	Abnormal external nose morphology	8504	PEX3	ORPHA:44
HP:0010938	Abnormal external nose morphology	9409	PEX16	ORPHA:44
HP:0010938	Abnormal external nose morphology	5190	PEX6	ORPHA:44
HP:0010938	Abnormal external nose morphology	8799	PEX11B	ORPHA:44
HP:0010938	Abnormal external nose morphology	5193	PEX12	ORPHA:44
HP:0010938	Abnormal external nose morphology	5194	PEX13	ORPHA:44
HP:0010938	Abnormal external nose morphology	5194	PEX13	OMIM:614883
HP:0010938	Abnormal external nose morphology	5195	PEX14	ORPHA:44
HP:0010938	Abnormal external nose morphology	5192	PEX10	ORPHA:44
HP:0010938	Abnormal external nose morphology	9652	SKIC3	OMIM:222470
HP:0010938	Abnormal external nose morphology	9321	TRIP11	ORPHA:93299
HP:0010938	Abnormal external nose morphology	9321	TRIP11	OMIM:200600
HP:0010938	Abnormal external nose morphology	79791	FBXO31	OMIM:615979
HP:0010938	Abnormal external nose morphology	85440	DOCK7	OMIM:615859
HP:0010938	Abnormal external nose morphology	85440	DOCK7	ORPHA:411986
HP:0010938	Abnormal external nose morphology	701	BUB1B	OMIM:257300
HP:0010938	Abnormal external nose morphology	55023	PHIP	ORPHA:589905
HP:0010938	Abnormal external nose morphology	55023	PHIP	OMIM:617991
HP:0010938	Abnormal external nose morphology	2703	GJA8	OMIM:612474
HP:0010938	Abnormal external nose morphology	2702	GJA5	OMIM:612474
HP:0010938	Abnormal external nose morphology	867	CBL	OMIM:613563
HP:0010938	Abnormal external nose morphology	51025	PAM16	OMIM:613320
HP:0010938	Abnormal external nose morphology	2245	FGD1	ORPHA:915
HP:0010938	Abnormal external nose morphology	2245	FGD1	OMIM:305400
HP:0010938	Abnormal external nose morphology	10664	CTCF	OMIM:615502
HP:0010938	Abnormal external nose morphology	10664	CTCF	ORPHA:363611
HP:0010938	Abnormal external nose morphology	6497	SKI	ORPHA:2462
HP:0010938	Abnormal external nose morphology	6497	SKI	OMIM:182212
HP:0010938	Abnormal external nose morphology	8216	LZTR1	OMIM:605275
HP:0010938	Abnormal external nose morphology	55906	ZC4H2	OMIM:301041
HP:0010938	Abnormal external nose morphology	55906	ZC4H2	OMIM:314580
HP:0010938	Abnormal external nose morphology	23394	ADNP	OMIM:615873
HP:0010938	Abnormal external nose morphology	1788	DNMT3A	OMIM:615879
HP:0010938	Abnormal external nose morphology	23028	KDM1A	OMIM:616728
HP:0010938	Abnormal external nose morphology	23028	KDM1A	ORPHA:477993
HP:0010938	Abnormal external nose morphology	84162	BLTP1	OMIM:617822
HP:0010938	Abnormal external nose morphology	3097	HIVEP2	OMIM:616977
HP:0010938	Abnormal external nose morphology	3767	KCNJ11	ORPHA:79134
HP:0010938	Abnormal external nose morphology	79731	NARS2	ORPHA:79134
HP:0010938	Abnormal external nose morphology	6833	ABCC8	ORPHA:79134
HP:0010938	Abnormal external nose morphology	5053	PAH	ORPHA:2209
HP:0010938	Abnormal external nose morphology	10265	IRX5	OMIM:611174
HP:0010938	Abnormal external nose morphology	6602	SMARCD1	ORPHA:1465
HP:0010938	Abnormal external nose morphology	57492	ARID1B	ORPHA:1465
HP:0010938	Abnormal external nose morphology	196528	ARID2	ORPHA:1465
HP:0010938	Abnormal external nose morphology	6605	SMARCE1	ORPHA:1465
HP:0010938	Abnormal external nose morphology	134701	RIPPLY2	ORPHA:2311
HP:0010938	Abnormal external nose morphology	10683	DLL3	ORPHA:2311
HP:0010938	Abnormal external nose morphology	3955	LFNG	ORPHA:2311
HP:0010938	Abnormal external nose morphology	84667	HES7	ORPHA:2311
HP:0010938	Abnormal external nose morphology	145873	MESP2	ORPHA:2311
HP:0010938	Abnormal external nose morphology	91137	SLC25A46	OMIM:616505
HP:0010938	Abnormal external nose morphology	5604	MAP2K1	ORPHA:1340
HP:0010938	Abnormal external nose morphology	5605	MAP2K2	ORPHA:1340
HP:0010938	Abnormal external nose morphology	57211	ADGRG6	OMIM:616503
HP:0010938	Abnormal external nose morphology	2138	EYA1	ORPHA:2792
HP:0010938	Abnormal external nose morphology	5075	PAX1	ORPHA:2792
HP:0010938	Abnormal external nose morphology	79583	TMEM231	ORPHA:2318
HP:0010938	Abnormal external nose morphology	51524	TMEM138	ORPHA:2318
HP:0010938	Abnormal external nose morphology	23090	ZNF423	ORPHA:2318
HP:0010938	Abnormal external nose morphology	80184	CEP290	ORPHA:2318
HP:0010938	Abnormal external nose morphology	51259	TMEM216	ORPHA:2318
HP:0010938	Abnormal external nose morphology	57545	CC2D2A	ORPHA:2318
HP:0010938	Abnormal external nose morphology	57545	CC2D2A	ORPHA:1454
HP:0010938	Abnormal external nose morphology	10943	MSL3	OMIM:301032
HP:0010938	Abnormal external nose morphology	5745	PTH1R	ORPHA:50945
HP:0010938	Abnormal external nose morphology	84342	COG8	OMIM:611182
HP:0010938	Abnormal external nose morphology	8985	PLOD3	OMIM:612394
HP:0010938	Abnormal external nose morphology	128637	TBC1D20	OMIM:615663
HP:0010938	Abnormal external nose morphology	128637	TBC1D20	ORPHA:2510
HP:0010938	Abnormal external nose morphology	175	AGA	OMIM:208400
HP:0010938	Abnormal external nose morphology	55210	ATAD3A	OMIM:618810
HP:0010938	Abnormal external nose morphology	9419	CRIPT	OMIM:615789
HP:0010938	Abnormal external nose morphology	6638	SNRPN	ORPHA:177907
HP:0010938	Abnormal external nose morphology	2313	FLI1	ORPHA:2308
HP:0010938	Abnormal external nose morphology	60	ACTB	OMIM:243310
HP:0010938	Abnormal external nose morphology	10367	MICU1	OMIM:615673
HP:0010938	Abnormal external nose morphology	1861	TOR1A	OMIM:618947
HP:0010938	Abnormal external nose morphology	4329	ALDH6A1	OMIM:614105
HP:0010938	Abnormal external nose morphology	5293	PIK3CD	ORPHA:221139
HP:0010938	Abnormal external nose morphology	90417	KNSTRN	ORPHA:221139
HP:0010938	Abnormal external nose morphology	8405	SPOP	OMIM:618829
HP:0010938	Abnormal external nose morphology	23545	ATP6V0A2	OMIM:219200
HP:0010938	Abnormal external nose morphology	23545	ATP6V0A2	ORPHA:357074
HP:0010938	Abnormal external nose morphology	23630	KCNE5	ORPHA:86818
HP:0010938	Abnormal external nose morphology	2182	ACSL4	ORPHA:86818
HP:0010938	Abnormal external nose morphology	9949	AMMECR1	ORPHA:86818
HP:0010938	Abnormal external nose morphology	284252	KCTD1	OMIM:181270
HP:0010938	Abnormal external nose morphology	4893	NRAS	OMIM:137550
HP:0010938	Abnormal external nose morphology	51124	IER3IP1	OMIM:614231
HP:0010938	Abnormal external nose morphology	6911	TBX6	ORPHA:1797
HP:0010938	Abnormal external nose morphology	202018	TAPT1	OMIM:616897
HP:0010938	Abnormal external nose morphology	1806	DPYD	ORPHA:1675
HP:0010938	Abnormal external nose morphology	3832	KIF11	ORPHA:2526
HP:0010938	Abnormal external nose morphology	3832	KIF11	OMIM:152950
HP:0010938	Abnormal external nose morphology	100506658	OCLN	OMIM:251290
HP:0010938	Abnormal external nose morphology	3756	KCNH1	ORPHA:420561
HP:0010938	Abnormal external nose morphology	126792	B3GALT6	ORPHA:536467
HP:0010938	Abnormal external nose morphology	5331	PLCB3	OMIM:618961
HP:0010938	Abnormal external nose morphology	9320	TRIP12	OMIM:617752
HP:0010938	Abnormal external nose morphology	523	ATP6V1A	ORPHA:357074
HP:0010938	Abnormal external nose morphology	529	ATP6V1E1	ORPHA:357074
HP:0010938	Abnormal external nose morphology	529	ATP6V1E1	OMIM:617402
HP:0010938	Abnormal external nose morphology	5879	RAC1	OMIM:617751
HP:0010938	Abnormal external nose morphology	5879	RAC1	ORPHA:500159
HP:0010938	Abnormal external nose morphology	26503	SLC17A5	OMIM:269920
HP:0010938	Abnormal external nose morphology	650	BMP2	OMIM:617877
HP:0010938	Abnormal external nose morphology	738	VPS51	OMIM:618606
HP:0010938	Abnormal external nose morphology	5449	POU1F1	OMIM:613038
HP:0010938	Abnormal external nose morphology	85378	TUBGCP6	ORPHA:2518
HP:0010938	Abnormal external nose morphology	27229	TUBGCP4	ORPHA:2518
HP:0010938	Abnormal external nose morphology	10733	PLK4	ORPHA:2518
HP:0010938	Abnormal external nose morphology	9939	RBM8A	OMIM:274000
HP:0010938	Abnormal external nose morphology	4848	CNOT2	OMIM:618608
HP:0010938	Abnormal external nose morphology	25782	RAB3GAP2	ORPHA:2510
HP:0010938	Abnormal external nose morphology	22931	RAB18	ORPHA:2510
HP:0010938	Abnormal external nose morphology	64131	XYLT1	ORPHA:1425
HP:0010938	Abnormal external nose morphology	124583	CANT1	ORPHA:1425
HP:0010938	Abnormal external nose morphology	23529	CLCF1	ORPHA:1545
HP:0010938	Abnormal external nose morphology	4204	MECP2	OMIM:300260
HP:0010938	Abnormal external nose morphology	57647	DHX37	OMIM:618731
HP:0010938	Abnormal external nose morphology	23404	EXOSC2	OMIM:617763
HP:0010938	Abnormal external nose morphology	5087	PBX1	OMIM:617641
HP:0010938	Abnormal external nose morphology	92935	MARS2	OMIM:616430
HP:0010938	Abnormal external nose morphology	10082	GPC6	ORPHA:93329
HP:0010938	Abnormal external nose morphology	4858	NOVA2	OMIM:618859
HP:0010938	Abnormal external nose morphology	58499	ZNF462	OMIM:618619
HP:0010938	Abnormal external nose morphology	4123	MAN2C1	OMIM:619775
HP:0010938	Abnormal external nose morphology	2033	EP300	OMIM:180849
HP:0010938	Abnormal external nose morphology	1063	CENPF	OMIM:243605
HP:0010938	Abnormal external nose morphology	113189	CHST14	OMIM:601776
HP:0010938	Abnormal external nose morphology	55623	THUMPD1	OMIM:619989
HP:0010938	Abnormal external nose morphology	64840	PORCN	OMIM:305600
HP:0010938	Abnormal external nose morphology	26038	CHD5	OMIM:619873
HP:0010938	Abnormal external nose morphology	1139	CHRNA7	ORPHA:199318
HP:0010938	Abnormal external nose morphology	440	ASNS	OMIM:615574
HP:0010938	Abnormal external nose morphology	5530	PPP3CA	OMIM:617711
HP:0010938	Abnormal external nose morphology	201163	FLCN	OMIM:610883
HP:0010938	Abnormal external nose morphology	7703	PCGF2	OMIM:618371
HP:0010938	Abnormal external nose morphology	6857	SYT1	ORPHA:522077
HP:0010938	Abnormal external nose morphology	6857	SYT1	OMIM:618218
HP:0010938	Abnormal external nose morphology	5567	PRKACB	OMIM:619143
HP:0010938	Abnormal external nose morphology	835	CASP2	OMIM:620653
HP:0010938	Abnormal external nose morphology	6650	CAPN15	OMIM:619318
HP:0010938	Abnormal external nose morphology	10236	HNRNPR	OMIM:620073
HP:0010938	Abnormal external nose morphology	4247	MGAT2	ORPHA:79329
HP:0010938	Abnormal external nose morphology	4247	MGAT2	OMIM:212066
HP:0010938	Abnormal external nose morphology	79228	THOC6	ORPHA:363444
HP:0010938	Abnormal external nose morphology	79228	THOC6	OMIM:613680
HP:0010938	Abnormal external nose morphology	7707	ZNF148	OMIM:617260
HP:0010938	Abnormal external nose morphology	3021	H3-3B	OMIM:619721
HP:0010938	Abnormal external nose morphology	56098	PCDHGC4	OMIM:619880
HP:0010938	Abnormal external nose morphology	83737	ITCH	OMIM:613385
HP:0010938	Abnormal external nose morphology	51111	KMT5B	OMIM:617788
HP:0010938	Abnormal external nose morphology	57082	KNL1	OMIM:604321
HP:0010938	Abnormal external nose morphology	6904	TBCD	OMIM:617193
HP:0010938	Abnormal external nose morphology	9698	PUM1	OMIM:620719
HP:0010938	Abnormal external nose morphology	85459	CEP295	OMIM:620767
HP:0010938	Abnormal external nose morphology	57178	ZMIZ1	OMIM:618659
HP:0010938	Abnormal external nose morphology	8812	CCNK	OMIM:618147
HP:0010938	Abnormal external nose morphology	23461	ABCA5	OMIM:135400
HP:0010938	Abnormal external nose morphology	4763	NF1	ORPHA:139474
HP:0010938	Abnormal external nose morphology	387	RHOA	OMIM:618727
HP:0010938	Abnormal external nose morphology	57688	ZSWIM6	ORPHA:1827
HP:0010938	Abnormal external nose morphology	415	ARSL	ORPHA:79345
HP:0010938	Abnormal external nose morphology	5286	PIK3C2A	ORPHA:557003
HP:0010938	Abnormal external nose morphology	2131	EXT1	ORPHA:502
HP:0010938	Abnormal external nose morphology	9968	MED12	ORPHA:293707
HP:0010938	Abnormal external nose morphology	2068	ERCC2	ORPHA:910
HP:0010938	Abnormal external nose morphology	7507	XPA	ORPHA:910
HP:0010938	Abnormal external nose morphology	2071	ERCC3	ORPHA:910
HP:0010938	Abnormal external nose morphology	7508	XPC	ORPHA:910
HP:0010938	Abnormal external nose morphology	1643	DDB2	ORPHA:910
HP:0010938	Abnormal external nose morphology	2072	ERCC4	ORPHA:910
HP:0010938	Abnormal external nose morphology	2073	ERCC5	ORPHA:910
HP:0010938	Abnormal external nose morphology	54084	TSPEAR	OMIM:618180
HP:0010938	Abnormal external nose morphology	79736	TEFM	OMIM:620451
HP:0010938	Abnormal external nose morphology	23483	TGDS	OMIM:616145
HP:0010938	Abnormal external nose morphology	23019	CNOT1	ORPHA:556955
HP:0010938	Abnormal external nose morphology	3479	IGF1	ORPHA:73272
HP:0010938	Abnormal external nose morphology	26235	FBXL4	OMIM:615471
HP:0010938	Abnormal external nose morphology	6777	STAT5B	OMIM:245590
HP:0010938	Abnormal external nose morphology	4792	NFKBIA	OMIM:612132
HP:0010938	Abnormal external nose morphology	3559	IL2RA	OMIM:606367
HP:0010938	Abnormal external nose morphology	2296	FOXC1	OMIM:602482
HP:0010938	Abnormal external nose morphology	50964	SOST	OMIM:122860
HP:0010938	Abnormal external nose morphology	8550	MAPKAPK5	OMIM:619869
HP:0010938	Abnormal external nose morphology	25839	COG4	ORPHA:85172
HP:0010938	Abnormal external nose morphology	5566	PRKACA	OMIM:619142
HP:0010938	Abnormal external nose morphology	7043	TGFB3	OMIM:615582
HP:0010938	Abnormal external nose morphology	23512	SUZ12	OMIM:618786
HP:0010938	Abnormal external nose morphology	6134	RPL10	ORPHA:459070
HP:0010938	Abnormal external nose morphology	93986	FOXP2	ORPHA:251061
HP:0010939	Abnormal nasal bone morphology	124590	USH1G	OMIM:606943
HP:0010939	Abnormal nasal bone morphology	4796	TONSL	ORPHA:93357
HP:0010939	Abnormal nasal bone morphology	1499	CTNNB1	ORPHA:54595
HP:0010939	Abnormal nasal bone morphology	673	BRAF	ORPHA:54595
HP:0010939	Abnormal nasal bone morphology	29957	SLC25A24	ORPHA:2095
HP:0010939	Abnormal nasal bone morphology	4659	PPP1R12A	OMIM:618820
HP:0010939	Abnormal nasal bone morphology	5159	PDGFRB	OMIM:601812
HP:0010939	Abnormal nasal bone morphology	6496	SIX3	OMIM:157170
HP:0010939	Abnormal nasal bone morphology	60529	ALX4	OMIM:613451
HP:0005639	Hyperextensible hand joints	89970	RSPRY1	ORPHA:457395
HP:0005639	Hyperextensible hand joints	23111	SPART	OMIM:275900
HP:0005639	Hyperextensible hand joints	6651	SON	ORPHA:500150
HP:0005639	Hyperextensible hand joints	8239	USP9X	ORPHA:480880
HP:0008890	Severe short-limb dwarfism	3930	LBR	OMIM:215140
HP:0008890	Severe short-limb dwarfism	3930	LBR	ORPHA:1426
HP:0008890	Severe short-limb dwarfism	2317	FLNB	ORPHA:1263
HP:0008890	Severe short-limb dwarfism	286053	NSMCE2	ORPHA:436182
HP:0008890	Severe short-limb dwarfism	7518	XRCC4	ORPHA:436182
HP:0008890	Severe short-limb dwarfism	8200	GDF5	ORPHA:968
HP:0008890	Severe short-limb dwarfism	8200	GDF5	OMIM:201250
HP:0008921	Neonatal short-limb short stature	6023	RMRP	OMIM:250250
HP:0008921	Neonatal short-limb short stature	5566	PRKACA	ORPHA:289
HP:0008921	Neonatal short-limb short stature	5567	PRKACB	ORPHA:289
HP:0008921	Neonatal short-limb short stature	2735	GLI1	ORPHA:289
HP:0008921	Neonatal short-limb short stature	2121	EVC	ORPHA:289
HP:0008921	Neonatal short-limb short stature	2121	EVC	OMIM:225500
HP:0008921	Neonatal short-limb short stature	51626	DYNC2LI1	ORPHA:289
HP:0008921	Neonatal short-limb short stature	132884	EVC2	ORPHA:289
HP:0008921	Neonatal short-limb short stature	132884	EVC2	OMIM:225500
HP:0008921	Neonatal short-limb short stature	2261	FGFR3	OMIM:100800
HP:0008921	Neonatal short-limb short stature	6662	SOX9	OMIM:114290
HP:0008921	Neonatal short-limb short stature	1836	SLC26A2	OMIM:600972
HP:0008921	Neonatal short-limb short stature	1836	SLC26A2	OMIM:222600
HP:0008921	Neonatal short-limb short stature	1836	SLC26A2	ORPHA:628
HP:0008921	Neonatal short-limb short stature	1280	COL2A1	OMIM:151210
HP:0008921	Neonatal short-limb short stature	1277	COL1A1	OMIM:259420
HP:0008921	Neonatal short-limb short stature	1278	COL1A2	OMIM:259420
HP:0008921	Neonatal short-limb short stature	5745	PTH1R	ORPHA:50945
HP:0003498	Disproportionate short stature	2137	EXTL3	ORPHA:508533
HP:0003498	Disproportionate short stature	2137	EXTL3	OMIM:617425
HP:0003498	Disproportionate short stature	5251	PHEX	ORPHA:89936
HP:0003498	Disproportionate short stature	2261	FGFR3	OMIM:616482
HP:0003498	Disproportionate short stature	2261	FGFR3	ORPHA:15
HP:0003498	Disproportionate short stature	84068	SLC10A7	OMIM:618363
HP:0003498	Disproportionate short stature	2879	GPX4	ORPHA:93317
HP:0003498	Disproportionate short stature	2879	GPX4	OMIM:250220
HP:0003498	Disproportionate short stature	100151683	RNU4ATAC	OMIM:210710
HP:0003498	Disproportionate short stature	7476	WNT7A	ORPHA:2879
HP:0003498	Disproportionate short stature	7476	WNT7A	OMIM:276820
HP:0003498	Disproportionate short stature	5116	PCNT	ORPHA:2637
HP:0003498	Disproportionate short stature	5116	PCNT	OMIM:210720
HP:0003498	Disproportionate short stature	5593	PRKG2	OMIM:619636
HP:0003498	Disproportionate short stature	1836	SLC26A2	ORPHA:93298
HP:0003498	Disproportionate short stature	1836	SLC26A2	ORPHA:93307
HP:0003498	Disproportionate short stature	4882	NPR2	ORPHA:40
HP:0003498	Disproportionate short stature	65992	DDRGK1	ORPHA:93352
HP:0003498	Disproportionate short stature	1302	COL11A2	ORPHA:1427
HP:0003498	Disproportionate short stature	4322	MMP13	ORPHA:93356
HP:0003498	Disproportionate short stature	4322	MMP13	OMIM:250400
HP:0003498	Disproportionate short stature	4322	MMP13	ORPHA:2501
HP:0003498	Disproportionate short stature	1280	COL2A1	ORPHA:485
HP:0003498	Disproportionate short stature	1280	COL2A1	ORPHA:1856
HP:0003498	Disproportionate short stature	29071	C1GALT1C1	OMIM:301110
HP:0003498	Disproportionate short stature	8443	GNPAT	OMIM:222765
HP:0003498	Disproportionate short stature	6913	TBX15	OMIM:260660
HP:0003498	Disproportionate short stature	1311	COMP	ORPHA:93308
HP:0003498	Disproportionate short stature	54808	DYM	OMIM:223800
HP:0003498	Disproportionate short stature	54808	DYM	OMIM:607326
HP:0003498	Disproportionate short stature	54808	DYM	ORPHA:239
HP:0003498	Disproportionate short stature	9321	TRIP11	OMIM:200600
HP:0003498	Disproportionate short stature	59341	TRPV4	OMIM:184252
HP:0003498	Disproportionate short stature	59341	TRPV4	ORPHA:93314
HP:0003498	Disproportionate short stature	59341	TRPV4	OMIM:156530
HP:0003498	Disproportionate short stature	6399	TRAPPC2	ORPHA:93284
HP:0003498	Disproportionate short stature	6399	TRAPPC2	OMIM:313400
HP:0003498	Disproportionate short stature	153642	ARSK	OMIM:619698
HP:0003498	Disproportionate short stature	9469	CHST3	ORPHA:263463
HP:0003498	Disproportionate short stature	579	NKX3-2	OMIM:613330
HP:0003498	Disproportionate short stature	89970	RSPRY1	ORPHA:457395
HP:0003498	Disproportionate short stature	2588	GALNS	OMIM:253000
HP:0003498	Disproportionate short stature	2335	FN1	ORPHA:93315
HP:0003498	Disproportionate short stature	755	CFAP410	OMIM:602271
HP:0003498	Disproportionate short stature	2317	FLNB	OMIM:272460
HP:0003498	Disproportionate short stature	411	ARSB	OMIM:253200
HP:0003498	Disproportionate short stature	633	BGN	OMIM:300106
HP:0003498	Disproportionate short stature	83452	RAB33B	OMIM:615222
HP:0003498	Disproportionate short stature	2720	GLB1	OMIM:253010
HP:0003498	Disproportionate short stature	50485	SMARCAL1	ORPHA:1830
HP:0003498	Disproportionate short stature	50485	SMARCAL1	OMIM:242900
HP:0003498	Disproportionate short stature	64132	XYLT2	ORPHA:85194
HP:0003498	Disproportionate short stature	6911	TBX6	OMIM:122600
HP:0003498	Disproportionate short stature	145873	MESP2	OMIM:277300
HP:0003498	Disproportionate short stature	145873	MESP2	OMIM:608681
HP:0003498	Disproportionate short stature	10683	DLL3	OMIM:277300
HP:0003498	Disproportionate short stature	54	ACP5	ORPHA:1855
HP:0003498	Disproportionate short stature	168667	BMPER	OMIM:608022
HP:0003498	Disproportionate short stature	79848	CSPP1	ORPHA:397715
HP:0003498	Disproportionate short stature	9786	KIAA0586	ORPHA:397715
HP:0003498	Disproportionate short stature	2263	FGFR2	OMIM:101200
HP:0003498	Disproportionate short stature	171023	ASXL1	OMIM:605039
HP:0003498	Disproportionate short stature	3835	KIF22	ORPHA:93360
HP:0003498	Disproportionate short stature	9653	HS2ST1	OMIM:619194
HP:0003498	Disproportionate short stature	4921	DDR2	OMIM:271665
HP:0003498	Disproportionate short stature	8200	GDF5	OMIM:200700
HP:0003498	Disproportionate short stature	8200	GDF5	ORPHA:2098
HP:0003498	Disproportionate short stature	9851	KIAA0753	OMIM:619479
HP:0003498	Disproportionate short stature	145173	B3GLCT	OMIM:261540
HP:0003498	Disproportionate short stature	145173	B3GLCT	ORPHA:709
HP:0003498	Disproportionate short stature	658	BMPR1B	ORPHA:2098
HP:0003498	Disproportionate short stature	658	BMPR1B	OMIM:609441
HP:0003498	Disproportionate short stature	3636	INPPL1	ORPHA:3144
HP:0003498	Disproportionate short stature	3636	INPPL1	OMIM:258480
HP:0003498	Disproportionate short stature	23169	SLC35D1	ORPHA:3144
HP:0003498	Disproportionate short stature	23169	SLC35D1	OMIM:269250
HP:0003498	Disproportionate short stature	1277	COL1A1	OMIM:259420
HP:0003498	Disproportionate short stature	1277	COL1A1	OMIM:166210
HP:0003498	Disproportionate short stature	1278	COL1A2	OMIM:259420
HP:0003498	Disproportionate short stature	1278	COL1A2	OMIM:166210
HP:0003498	Disproportionate short stature	4796	TONSL	ORPHA:93357
HP:0003498	Disproportionate short stature	4796	TONSL	OMIM:271510
HP:0003498	Disproportionate short stature	6473	SHOX	OMIM:127300
HP:0003498	Disproportionate short stature	6473	SHOX	ORPHA:2632
HP:0003498	Disproportionate short stature	6473	SHOX	ORPHA:240
HP:0003498	Disproportionate short stature	4148	MATN3	OMIM:608728
HP:0003498	Disproportionate short stature	4148	MATN3	ORPHA:156728
HP:0003498	Disproportionate short stature	8540	AGPS	OMIM:600121
HP:0003498	Disproportionate short stature	55112	DYNC2I1	ORPHA:93271
HP:0003498	Disproportionate short stature	57560	IFT80	ORPHA:93271
HP:0003498	Disproportionate short stature	57539	WDR35	ORPHA:93271
HP:0003498	Disproportionate short stature	79659	DYNC2H1	ORPHA:93271
HP:0003498	Disproportionate short stature	89891	DYNC2I2	ORPHA:93271
HP:0003498	Disproportionate short stature	249	ALPL	OMIM:241500
HP:0003498	Disproportionate short stature	6662	SOX9	OMIM:114290
HP:0003498	Disproportionate short stature	124583	CANT1	OMIM:251450
HP:0003498	Disproportionate short stature	124583	CANT1	ORPHA:1425
HP:0003498	Disproportionate short stature	64175	P3H1	OMIM:610915
HP:0003498	Disproportionate short stature	3930	LBR	OMIM:215140
HP:0003498	Disproportionate short stature	3930	LBR	OMIM:618019
HP:0003498	Disproportionate short stature	1300	COL10A1	ORPHA:174
HP:0003498	Disproportionate short stature	6023	RMRP	ORPHA:175
HP:0003498	Disproportionate short stature	132884	EVC2	OMIM:225500
HP:0003498	Disproportionate short stature	2121	EVC	OMIM:225500
HP:0003498	Disproportionate short stature	3339	HSPG2	OMIM:224410
HP:0003498	Disproportionate short stature	11014	KDELR2	OMIM:619131
HP:0003498	Disproportionate short stature	7518	XRCC4	OMIM:616541
HP:0003498	Disproportionate short stature	10082	GPC6	OMIM:258315
HP:0003498	Disproportionate short stature	23184	MESD	OMIM:618644
HP:0003498	Disproportionate short stature	5479	PPIB	OMIM:259440
HP:0003498	Disproportionate short stature	64359	NXN	ORPHA:1507
HP:0003498	Disproportionate short stature	4920	ROR2	ORPHA:1507
HP:0003498	Disproportionate short stature	64116	SLC39A8	ORPHA:468699
HP:0003498	Disproportionate short stature	29110	TBK1	OMIM:620880
HP:0003498	Disproportionate short stature	64131	XYLT1	ORPHA:1425
HP:0003498	Disproportionate short stature	55790	CSGALNACT1	ORPHA:1425
HP:0003498	Disproportionate short stature	1513	CTSK	ORPHA:763
HP:0003498	Disproportionate short stature	3549	IHH	OMIM:607778
HP:0003498	Disproportionate short stature	406932	MIR140	OMIM:618618
HP:0003498	Disproportionate short stature	5573	PRKAR1A	OMIM:101800
HP:0003498	Disproportionate short stature	286053	NSMCE2	ORPHA:436182
HP:0003498	Disproportionate short stature	1718	DHCR24	OMIM:602398
HP:0003498	Disproportionate short stature	10586	MAB21L2	OMIM:615877
HP:0003498	Disproportionate short stature	8942	KYNU	OMIM:617661
HP:0003498	Disproportionate short stature	114803	MYSM1	OMIM:618116
HP:0003498	Disproportionate short stature	1717	DHCR7	ORPHA:818
HP:0003498	Disproportionate short stature	176	ACAN	OMIM:612813
HP:0003498	Disproportionate short stature	176	ACAN	ORPHA:171866
HP:0003498	Disproportionate short stature	112752	IFT43	ORPHA:1515
HP:0003498	Disproportionate short stature	112752	IFT43	OMIM:614099
HP:0003498	Disproportionate short stature	51098	IFT52	ORPHA:1515
HP:0003498	Disproportionate short stature	55764	IFT122	ORPHA:1515
HP:0003498	Disproportionate short stature	55764	IFT122	OMIM:218330
HP:0003498	Disproportionate short stature	57728	WDR19	ORPHA:1515
HP:0003498	Disproportionate short stature	57728	WDR19	OMIM:614376
HP:0003498	Disproportionate short stature	9382	COG1	OMIM:611209
HP:0003498	Disproportionate short stature	9382	COG1	ORPHA:263508
HP:0003498	Disproportionate short stature	90993	CREB3L1	OMIM:616229
HP:0003498	Disproportionate short stature	5191	PEX7	OMIM:215100
HP:0003498	Disproportionate short stature	79087	ALG12	OMIM:607143
HP:0003498	Disproportionate short stature	372	ARCN1	OMIM:617164
HP:0003498	Disproportionate short stature	10013	HDAC6	OMIM:300863
HP:0003498	Disproportionate short stature	10013	HDAC6	ORPHA:163966
HP:0003498	Disproportionate short stature	5745	PTH1R	ORPHA:50945
HP:0003498	Disproportionate short stature	4297	KMT2A	ORPHA:319182
HP:0003498	Disproportionate short stature	1301	COL11A1	OMIM:228520
HP:0003498	Disproportionate short stature	1301	COL11A1	ORPHA:440354
HP:0003498	Disproportionate short stature	2475	MTOR	OMIM:616638
HP:0003498	Disproportionate short stature	64841	GNPNAT1	OMIM:619598
HP:0003498	Disproportionate short stature	91461	PKDCC	OMIM:618821
HP:0003498	Disproportionate short stature	145258	GSC	OMIM:602471
HP:0003498	Disproportionate short stature	51360	MBTPS2	OMIM:301014
HP:0003498	Disproportionate short stature	79796	ALG9	ORPHA:79328
HP:0003498	Disproportionate short stature	5130	PCYT1A	ORPHA:85167
HP:0003498	Disproportionate short stature	5130	PCYT1A	OMIM:608940
HP:0003498	Disproportionate short stature	9702	CEP57	OMIM:614114
HP:0003498	Disproportionate short stature	2260	FGFR1	ORPHA:2645
HP:0003498	Disproportionate short stature	2260	FGFR1	OMIM:166250
HP:0003498	Disproportionate short stature	23387	SIK3	OMIM:618162
HP:0003498	Disproportionate short stature	153241	CEP120	OMIM:616300
HP:0003498	Disproportionate short stature	10491	CRTAP	OMIM:610682
HP:0003498	Disproportionate short stature	7474	WNT5A	OMIM:180700
HP:0003498	Disproportionate short stature	1855	DVL1	OMIM:180700
HP:0003498	Disproportionate short stature	10682	EBP	OMIM:302960
HP:0003498	Disproportionate short stature	26229	B3GAT3	OMIM:245600
HP:0003498	Disproportionate short stature	9742	IFT140	OMIM:266920
HP:0003498	Disproportionate short stature	81570	CLPB	OMIM:616271
HP:0003498	Disproportionate short stature	2535	FZD2	ORPHA:93328
HP:0003498	Disproportionate short stature	25886	POC1A	OMIM:614813
HP:0003498	Disproportionate short stature	871	SERPINH1	OMIM:613848
HP:0003498	Disproportionate short stature	5566	PRKACA	ORPHA:289
HP:0003498	Disproportionate short stature	5567	PRKACB	ORPHA:289
HP:0003498	Disproportionate short stature	2735	GLI1	ORPHA:289
HP:0003498	Disproportionate short stature	51626	DYNC2LI1	ORPHA:289
HP:0003498	Disproportionate short stature	8838	CCN6	ORPHA:1159
HP:0003498	Disproportionate short stature	22827	PUF60	ORPHA:508488
HP:0003498	Disproportionate short stature	2972	BRF1	ORPHA:444072
HP:0005716	Lethal skeletal dysplasia	3930	LBR	OMIM:215140
HP:0005716	Lethal skeletal dysplasia	55112	DYNC2I1	ORPHA:93271
HP:0005716	Lethal skeletal dysplasia	57560	IFT80	ORPHA:93271
HP:0005716	Lethal skeletal dysplasia	57539	WDR35	ORPHA:93271
HP:0005716	Lethal skeletal dysplasia	79659	DYNC2H1	ORPHA:93271
HP:0005716	Lethal skeletal dysplasia	89891	DYNC2I2	ORPHA:93271
HP:0005716	Lethal skeletal dysplasia	1836	SLC26A2	ORPHA:93298
HP:0005716	Lethal skeletal dysplasia	9321	TRIP11	ORPHA:93299
HP:0005716	Lethal skeletal dysplasia	1280	COL2A1	OMIM:151210
HP:0005716	Lethal skeletal dysplasia	5745	PTH1R	ORPHA:50945
HP:0010554	Cutaneous finger syndactyly	2188	FANCF	OMIM:603467
HP:0010554	Cutaneous finger syndactyly	50964	SOST	OMIM:269500
HP:0010554	Cutaneous finger syndactyly	50964	SOST	ORPHA:3152
HP:0010554	Cutaneous finger syndactyly	6910	TBX5	OMIM:142900
HP:0010554	Cutaneous finger syndactyly	1832	DSP	ORPHA:158687
HP:0010554	Cutaneous finger syndactyly	3728	JUP	ORPHA:158687
HP:0010554	Cutaneous finger syndactyly	1001	CDH3	OMIM:225280
HP:0010554	Cutaneous finger syndactyly	2719	GPC3	OMIM:312870
HP:0010554	Cutaneous finger syndactyly	2239	GPC4	OMIM:312870
HP:0010554	Cutaneous finger syndactyly	51057	WDPCP	OMIM:217085
HP:0010554	Cutaneous finger syndactyly	51057	WDPCP	ORPHA:1338
HP:0010554	Cutaneous finger syndactyly	50814	NSDHL	OMIM:308050
HP:0010554	Cutaneous finger syndactyly	1147	CHUK	OMIM:619339
HP:0010554	Cutaneous finger syndactyly	7291	TWIST1	OMIM:617746
HP:0010554	Cutaneous finger syndactyly	25914	RTTN	ORPHA:468631
HP:0010554	Cutaneous finger syndactyly	64327	LMBR1	OMIM:186200
HP:0010554	Cutaneous finger syndactyly	9791	PTDSS1	OMIM:151050
HP:0010554	Cutaneous finger syndactyly	4621	MYH3	OMIM:178110
HP:0010554	Cutaneous finger syndactyly	63895	PIEZO2	OMIM:114300
HP:0010554	Cutaneous finger syndactyly	4998	ORC1	OMIM:224690
HP:0010554	Cutaneous finger syndactyly	22856	CHSY1	ORPHA:363417
HP:0010554	Cutaneous finger syndactyly	5818	NECTIN1	OMIM:225060
HP:0010554	Cutaneous finger syndactyly	81607	NECTIN4	OMIM:613573
HP:0010554	Cutaneous finger syndactyly	4038	LRP4	OMIM:614305
HP:0010554	Cutaneous finger syndactyly	9241	NOG	OMIM:611377
HP:0010554	Cutaneous finger syndactyly	9241	NOG	OMIM:186500
HP:0010554	Cutaneous finger syndactyly	147372	CCBE1	OMIM:235510
HP:0010554	Cutaneous finger syndactyly	80144	FRAS1	OMIM:219000
HP:0010554	Cutaneous finger syndactyly	1009	CDH11	OMIM:211380
HP:0010554	Cutaneous finger syndactyly	5077	PAX3	OMIM:148820
HP:0010554	Cutaneous finger syndactyly	5077	PAX3	ORPHA:896
HP:0010554	Cutaneous finger syndactyly	3239	HOXD13	OMIM:186300
HP:0010554	Cutaneous finger syndactyly	117581	TWIST2	OMIM:200110
HP:0010554	Cutaneous finger syndactyly	4920	ROR2	OMIM:113000
HP:0010554	Cutaneous finger syndactyly	26040	SETBP1	OMIM:616078
HP:0010554	Cutaneous finger syndactyly	3664	IRF6	OMIM:119500
HP:0010554	Cutaneous finger syndactyly	57728	WDR19	OMIM:614378
HP:0010554	Cutaneous finger syndactyly	55012	PPP2R3C	OMIM:618419
HP:0010554	Cutaneous finger syndactyly	1954	MEGF8	OMIM:614976
HP:0010554	Cutaneous finger syndactyly	2737	GLI3	OMIM:174200
HP:0010554	Cutaneous finger syndactyly	2737	GLI3	ORPHA:93322
HP:0010554	Cutaneous finger syndactyly	79633	FAT4	OMIM:615546
HP:0010554	Cutaneous finger syndactyly	8642	DCHS1	OMIM:601390
HP:0010554	Cutaneous finger syndactyly	2263	FGFR2	OMIM:101200
HP:0010554	Cutaneous finger syndactyly	2697	GJA1	OMIM:186100
HP:0010554	Cutaneous finger syndactyly	2697	GJA1	OMIM:164200
HP:0010554	Cutaneous finger syndactyly	2697	GJA1	OMIM:257850
HP:0010554	Cutaneous finger syndactyly	23327	NEDD4L	OMIM:617201
HP:0010554	Cutaneous finger syndactyly	6469	SHH	ORPHA:93405
HP:0010554	Cutaneous finger syndactyly	8318	CDC45	OMIM:617063
HP:0010554	Cutaneous finger syndactyly	64840	PORCN	OMIM:305600
HP:0010554	Cutaneous finger syndactyly	1947	EFNB1	OMIM:304110
HP:0010554	Cutaneous finger syndactyly	8294	H4C9	OMIM:619951
HP:0010554	Cutaneous finger syndactyly	7994	KAT6A	OMIM:616268
HP:0010554	Cutaneous finger syndactyly	775	CACNA1C	OMIM:620029
HP:0010554	Cutaneous finger syndactyly	10586	MAB21L2	OMIM:615877
HP:0010554	Cutaneous finger syndactyly	284252	KCTD1	OMIM:181270
HP:0010554	Cutaneous finger syndactyly	6299	SALL1	OMIM:107480
HP:0010554	Cutaneous finger syndactyly	8626	TP63	ORPHA:69085
HP:0010554	Cutaneous finger syndactyly	583	BBS2	OMIM:615981
HP:0010554	Cutaneous finger syndactyly	79639	TMEM53	OMIM:619727
HP:0010554	Cutaneous finger syndactyly	65250	CPLANE1	OMIM:614615
HP:0100255	Metaphyseal dysplasia	9131	AIFM1	ORPHA:83629
HP:0100255	Metaphyseal dysplasia	1300	COL10A1	OMIM:156500
HP:0100255	Metaphyseal dysplasia	5745	PTH1R	OMIM:156400
HP:0100255	Metaphyseal dysplasia	6729	SRP54	OMIM:260400
HP:0100255	Metaphyseal dysplasia	51119	SBDS	OMIM:260400
HP:0100255	Metaphyseal dysplasia	51119	SBDS	ORPHA:811
HP:0100255	Metaphyseal dysplasia	2879	GPX4	ORPHA:93317
HP:0100255	Metaphyseal dysplasia	2261	FGFR3	ORPHA:85165
HP:0100255	Metaphyseal dysplasia	10013	HDAC6	ORPHA:163966
HP:0100255	Metaphyseal dysplasia	10195	ALG3	ORPHA:79321
HP:0100255	Metaphyseal dysplasia	79631	EFL1	ORPHA:811
HP:0100255	Metaphyseal dysplasia	9361	LONP1	OMIM:600373
HP:0100255	Metaphyseal dysplasia	54	ACP5	OMIM:607944
HP:0100255	Metaphyseal dysplasia	54	ACP5	ORPHA:1855
HP:0100255	Metaphyseal dysplasia	6023	RMRP	ORPHA:175
HP:0100255	Metaphyseal dysplasia	6023	RMRP	OMIM:250250
HP:0100255	Metaphyseal dysplasia	6023	RMRP	OMIM:250460
HP:0100255	Metaphyseal dysplasia	10940	POP1	OMIM:617396
HP:0100255	Metaphyseal dysplasia	6424	SFRP4	OMIM:265900
HP:0100255	Metaphyseal dysplasia	134218	DNAJC21	OMIM:617052
HP:0100255	Metaphyseal dysplasia	579	NKX3-2	OMIM:613330
HP:0100255	Metaphyseal dysplasia	79705	LRRK1	OMIM:615198
HP:0100255	Metaphyseal dysplasia	55325	UFSP2	OMIM:617974
HP:0100255	Metaphyseal dysplasia	1280	COL2A1	ORPHA:93316
HP:0100255	Metaphyseal dysplasia	55858	TMEM165	OMIM:614727
HP:0100255	Metaphyseal dysplasia	10283	CWC27	OMIM:250410
HP:0100255	Metaphyseal dysplasia	7040	TGFB1	ORPHA:1328
HP:0100255	Metaphyseal dysplasia	9451	EIF2AK3	ORPHA:1667
HP:0100255	Metaphyseal dysplasia	5286	PIK3C2A	ORPHA:557003
HP:0100255	Metaphyseal dysplasia	2697	GJA1	OMIM:218400
HP:0100255	Metaphyseal dysplasia	860	RUNX2	OMIM:156510
HP:0100255	Metaphyseal dysplasia	2137	EXTL3	OMIM:617425
HP:0100255	Metaphyseal dysplasia	79639	TMEM53	OMIM:619727
HP:0100255	Metaphyseal dysplasia	5426	POLE	OMIM:618336
HP:0100255	Metaphyseal dysplasia	5426	POLE	ORPHA:85173
HP:0100255	Metaphyseal dysplasia	1028	CDKN1C	OMIM:614732
HP:0100255	Metaphyseal dysplasia	1028	CDKN1C	ORPHA:85173
HP:0100255	Metaphyseal dysplasia	3930	LBR	OMIM:618019
HP:0100255	Metaphyseal dysplasia	4322	MMP13	OMIM:250400
HP:0100255	Metaphyseal dysplasia	4322	MMP13	ORPHA:2501
HP:0100255	Metaphyseal dysplasia	54808	DYM	ORPHA:239
HP:0100255	Metaphyseal dysplasia	3417	IDH1	ORPHA:99646
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	2778	GNAS	ORPHA:79445
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	10236	HNRNPR	OMIM:620073
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	57492	ARID1B	OMIM:135900
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	3481	IGF2	OMIM:180860
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	6598	SMARCB1	OMIM:614608
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	3930	LBR	OMIM:215140
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	29957	SLC25A24	OMIM:612289
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	7048	TGFBR2	OMIM:610168
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	1147	CHUK	OMIM:619339
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	3782	KCNN3	OMIM:618658
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	57572	DOCK6	OMIM:614219
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	84295	PHF6	OMIM:301900
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	84992	PIGY	ORPHA:247262
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	84992	PIGY	OMIM:616809
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	84720	PIGO	ORPHA:247262
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	84720	PIGO	OMIM:614749
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	93210	PGAP3	ORPHA:247262
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	93210	PGAP3	OMIM:615716
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	284098	PIGW	ORPHA:247262
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	27315	PGAP2	ORPHA:247262
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	27315	PGAP2	OMIM:614207
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	9487	PIGL	ORPHA:247262
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	57020	VPS35L	OMIM:619135
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	2972	BRF1	OMIM:616202
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	29929	ALG6	ORPHA:79320
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	2737	GLI3	OMIM:146510
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	5447	POR	ORPHA:95699
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	50814	NSDHL	OMIM:308050
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	658	BMPR1B	OMIM:616849
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	57167	SALL4	ORPHA:959
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	5293	PIK3CD	ORPHA:221139
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	90417	KNSTRN	ORPHA:221139
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	5727	PTCH1	OMIM:109400
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	9896	FIG4	OMIM:216340
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	9241	NOG	OMIM:611377
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	4920	ROR2	OMIM:113000
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	55697	VAC14	ORPHA:3472
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	1280	COL2A1	OMIM:271700
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	1280	COL2A1	ORPHA:93315
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	1280	COL2A1	ORPHA:85166
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	9488	PIGB	OMIM:618580
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	10617	STAMBP	OMIM:614261
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	8200	GDF5	OMIM:615072
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	2335	FN1	ORPHA:93315
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	23556	PIGN	ORPHA:2059
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	23556	PIGN	OMIM:614080
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	10973	ASCC3	OMIM:620700
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	90459	ERI1	OMIM:620662
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	59341	TRPV4	ORPHA:93314
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	59341	TRPV4	OMIM:606835
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	59341	TRPV4	ORPHA:85169
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	51412	ACTL6B	OMIM:618470
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	57465	TBC1D24	OMIM:220500
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	57465	TBC1D24	ORPHA:79500
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	613	BCR	ORPHA:261330
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	1399	CRKL	ORPHA:261330
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	5594	MAPK1	ORPHA:261330
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	1855	DVL1	OMIM:616331
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	55784	MCTP2	ORPHA:1596
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	4000	LMNA	OMIM:248370
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	4000	LMNA	ORPHA:90153
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	5744	PTHLH	ORPHA:93387
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	3239	HOXD13	ORPHA:93387
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	3239	HOXD13	ORPHA:93406
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	3239	HOXD13	OMIM:186300
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	3764	KCNJ8	ORPHA:1517
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	10060	ABCC9	ORPHA:1517
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	57539	WDR35	ORPHA:1515
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	57539	WDR35	OMIM:614091
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	112752	IFT43	ORPHA:1515
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	51098	IFT52	ORPHA:1515
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	51098	IFT52	OMIM:617102
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	55764	IFT122	ORPHA:1515
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	55764	IFT122	OMIM:218330
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	57728	WDR19	ORPHA:1515
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	57728	WDR19	OMIM:614378
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	10269	ZMPSTE24	ORPHA:90154
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	6926	TBX3	ORPHA:3138
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	55650	PIGV	OMIM:239300
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	6595	SMARCA2	OMIM:619293
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	4784	NFIX	OMIM:602535
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	24140	FTSJ1	OMIM:309549
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	54496	PRMT7	OMIM:617157
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	3756	KCNH1	OMIM:135500
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	3756	KCNH1	ORPHA:420561
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	3756	KCNH1	OMIM:611816
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	9469	CHST3	OMIM:143095
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	64359	NXN	ORPHA:1507
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	8289	ARID1A	OMIM:614607
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	3209	HOXA13	ORPHA:2438
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	5566	PRKACA	ORPHA:289
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	5567	PRKACB	ORPHA:289
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	2735	GLI1	ORPHA:289
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	2121	EVC	ORPHA:289
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	51626	DYNC2LI1	ORPHA:289
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	132884	EVC2	ORPHA:289
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	3549	IHH	OMIM:607778
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	3549	IHH	OMIM:112500
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	2475	MTOR	OMIM:616638
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	5116	PCNT	OMIM:210720
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	9419	CRIPT	OMIM:615789
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	4853	NOTCH2	ORPHA:955
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	26040	SETBP1	OMIM:269150
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	26040	SETBP1	ORPHA:798
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	2239	GPC4	ORPHA:2662
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	2239	GPC4	OMIM:312870
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	2316	FLNA	ORPHA:90650
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	2316	FLNA	ORPHA:2484
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	2316	FLNA	ORPHA:1826
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	2316	FLNA	OMIM:309350
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	2316	FLNA	OMIM:311300
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	54	ACP5	ORPHA:1855
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	6197	RPS6KA3	ORPHA:192
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	1300	COL10A1	OMIM:156500
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	5281	PIGF	OMIM:619356
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	94005	PIGS	OMIM:618143
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	2677	GGCX	OMIM:277450
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	10283	CWC27	OMIM:250410
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	415	ARSL	ORPHA:79345
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	415	ARSL	OMIM:302950
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	526	ATP6V1B2	ORPHA:79500
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	2317	FLNB	ORPHA:503
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	1311	COMP	OMIM:177170
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	25839	COG4	OMIM:618150
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	26137	ZBTB20	OMIM:259050
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	60401	EDA2R	ORPHA:181
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	1896	EDA	ORPHA:181
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	5159	PDGFRB	OMIM:601812
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	4256	MGP	ORPHA:85202
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	4256	MGP	OMIM:245150
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	28952	CCDC22	OMIM:300963
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	182	JAG1	OMIM:118450
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	7291	TWIST1	OMIM:617746
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	6605	SMARCE1	OMIM:616938
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	3516	RBPJ	ORPHA:974
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	3516	RBPJ	OMIM:614814
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	4851	NOTCH1	ORPHA:974
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	57514	ARHGAP31	ORPHA:974
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	285203	EOGT	ORPHA:974
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	54567	DLL4	ORPHA:974
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	50515	CHST11	OMIM:618167
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	8242	KDM5C	OMIM:300534
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	6885	MAP3K7	ORPHA:1826
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	1186	CLCN7	ORPHA:53
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	2703	GJA8	OMIM:612474
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	2702	GJA5	OMIM:612474
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	2719	GPC3	OMIM:312870
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	6664	SOX11	OMIM:615866
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	55081	IFT57	OMIM:617927
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	25886	POC1A	OMIM:614813
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	865	CBFB	OMIM:620099
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	7227	TRPS1	ORPHA:77258
HP:0005620	Hypermobility of interphalangeal joints	1281	COL3A1	OMIM:130050
HP:0005620	Hypermobility of interphalangeal joints	22827	PUF60	ORPHA:508498
HP:0005620	Hypermobility of interphalangeal joints	121340	SP7	OMIM:613849
HP:0005620	Hypermobility of interphalangeal joints	1278	COL1A2	ORPHA:230851
HP:0005620	Hypermobility of interphalangeal joints	9427	ECEL1	OMIM:615065
HP:0005640	Abnormal vertebral segmentation and fusion	57167	SALL4	ORPHA:233
HP:0005640	Abnormal vertebral segmentation and fusion	9935	MAFB	ORPHA:233
HP:0005640	Abnormal vertebral segmentation and fusion	1123	CHN1	ORPHA:233
HP:0005640	Abnormal vertebral segmentation and fusion	9573	GDF3	ORPHA:2345
HP:0005640	Abnormal vertebral segmentation and fusion	392255	GDF6	ORPHA:2345
HP:0005640	Abnormal vertebral segmentation and fusion	392255	GDF6	OMIM:118100
HP:0005640	Abnormal vertebral segmentation and fusion	4222	MEOX1	ORPHA:2345
HP:0005640	Abnormal vertebral segmentation and fusion	168667	BMPER	ORPHA:66637
HP:0005640	Abnormal vertebral segmentation and fusion	2245	FGD1	ORPHA:915
HP:0005640	Abnormal vertebral segmentation and fusion	2316	FLNA	ORPHA:90650
HP:0005640	Abnormal vertebral segmentation and fusion	2316	FLNA	ORPHA:90652
HP:0005640	Abnormal vertebral segmentation and fusion	81839	VANGL1	ORPHA:3027
HP:0005640	Abnormal vertebral segmentation and fusion	80199	FUZ	ORPHA:3027
HP:0004558	Cervical platyspondyly	2517	FUCA1	OMIM:230000
HP:0004558	Cervical platyspondyly	57647	DHX37	OMIM:618731
HP:0004558	Cervical platyspondyly	59341	TRPV4	ORPHA:93314
HP:0010714	2-4 toe syndactyly	5290	PIK3CA	ORPHA:276280
HP:0010714	2-4 toe syndactyly	150468	CKAP2L	OMIM:272440
HP:0010714	2-4 toe syndactyly	112752	IFT43	OMIM:614099
HP:0005643	Short 3rd toe	374969	SVBP	OMIM:618569
HP:0005643	Short 3rd toe	1327	COX4I1	OMIM:619060
HP:0005643	Short 3rd toe	8936	WASF1	OMIM:618707
HP:0000926	Platyspondyly	1280	COL2A1	OMIM:271700
HP:0000926	Platyspondyly	1280	COL2A1	OMIM:616583
HP:0000926	Platyspondyly	1280	COL2A1	ORPHA:90653
HP:0000926	Platyspondyly	1280	COL2A1	ORPHA:85198
HP:0000926	Platyspondyly	1280	COL2A1	ORPHA:1856
HP:0000926	Platyspondyly	1280	COL2A1	OMIM:184250
HP:0000926	Platyspondyly	1280	COL2A1	OMIM:108300
HP:0000926	Platyspondyly	1280	COL2A1	ORPHA:485
HP:0000926	Platyspondyly	1280	COL2A1	OMIM:604864
HP:0000926	Platyspondyly	1280	COL2A1	ORPHA:93315
HP:0000926	Platyspondyly	1280	COL2A1	ORPHA:93316
HP:0000926	Platyspondyly	1280	COL2A1	OMIM:609162
HP:0000926	Platyspondyly	1280	COL2A1	ORPHA:94068
HP:0000926	Platyspondyly	1280	COL2A1	OMIM:156550
HP:0000926	Platyspondyly	1280	COL2A1	OMIM:183900
HP:0000926	Platyspondyly	1280	COL2A1	ORPHA:93346
HP:0000926	Platyspondyly	1280	COL2A1	ORPHA:85166
HP:0000926	Platyspondyly	176	ACAN	ORPHA:93283
HP:0000926	Platyspondyly	176	ACAN	OMIM:608361
HP:0000926	Platyspondyly	176	ACAN	OMIM:612813
HP:0000926	Platyspondyly	6399	TRAPPC2	ORPHA:93284
HP:0000926	Platyspondyly	6399	TRAPPC2	OMIM:313400
HP:0000926	Platyspondyly	9131	AIFM1	OMIM:300232
HP:0000926	Platyspondyly	1763	DNA2	OMIM:620819
HP:0000926	Platyspondyly	4750	NEK1	OMIM:263520
HP:0000926	Platyspondyly	8838	CCN6	OMIM:208230
HP:0000926	Platyspondyly	8838	CCN6	ORPHA:1159
HP:0000926	Platyspondyly	652	BMP4	ORPHA:828
HP:0000926	Platyspondyly	2720	GLB1	OMIM:230600
HP:0000926	Platyspondyly	2720	GLB1	OMIM:253010
HP:0000926	Platyspondyly	2720	GLB1	OMIM:230650
HP:0000926	Platyspondyly	2720	GLB1	ORPHA:79255
HP:0000926	Platyspondyly	755	CFAP410	OMIM:602271
HP:0000926	Platyspondyly	538	ATP7A	OMIM:304150
HP:0000926	Platyspondyly	538	ATP7A	ORPHA:198
HP:0000926	Platyspondyly	2261	FGFR3	ORPHA:93274
HP:0000926	Platyspondyly	2261	FGFR3	ORPHA:1860
HP:0000926	Platyspondyly	2261	FGFR3	OMIM:616482
HP:0000926	Platyspondyly	2261	FGFR3	OMIM:187601
HP:0000926	Platyspondyly	2261	FGFR3	OMIM:187600
HP:0000926	Platyspondyly	5352	PLOD2	OMIM:609220
HP:0000926	Platyspondyly	5352	PLOD2	ORPHA:2771
HP:0000926	Platyspondyly	4125	MAN2B1	ORPHA:309282
HP:0000926	Platyspondyly	249	ALPL	OMIM:241500
HP:0000926	Platyspondyly	2317	FLNB	ORPHA:1190
HP:0000926	Platyspondyly	2137	EXTL3	OMIM:617425
HP:0000926	Platyspondyly	79639	TMEM53	OMIM:619727
HP:0000926	Platyspondyly	3764	KCNJ8	ORPHA:1517
HP:0000926	Platyspondyly	10060	ABCC9	ORPHA:1517
HP:0000926	Platyspondyly	10060	ABCC9	OMIM:239850
HP:0000926	Platyspondyly	64175	P3H1	OMIM:610915
HP:0000926	Platyspondyly	1300	COL10A1	ORPHA:174
HP:0000926	Platyspondyly	1300	COL10A1	OMIM:156500
HP:0000926	Platyspondyly	1301	COL11A1	OMIM:154780
HP:0000926	Platyspondyly	1301	COL11A1	OMIM:228520
HP:0000926	Platyspondyly	54	ACP5	OMIM:607944
HP:0000926	Platyspondyly	54	ACP5	ORPHA:1855
HP:0000926	Platyspondyly	51360	MBTPS2	ORPHA:2273
HP:0000926	Platyspondyly	60561	RINT1	OMIM:618641
HP:0000926	Platyspondyly	54543	TOMM7	OMIM:620601
HP:0000926	Platyspondyly	90993	CREB3L1	OMIM:616229
HP:0000926	Platyspondyly	59341	TRPV4	OMIM:113500
HP:0000926	Platyspondyly	59341	TRPV4	OMIM:184252
HP:0000926	Platyspondyly	59341	TRPV4	ORPHA:93314
HP:0000926	Platyspondyly	59341	TRPV4	OMIM:156530
HP:0000926	Platyspondyly	59341	TRPV4	OMIM:617383
HP:0000926	Platyspondyly	59341	TRPV4	ORPHA:93304
HP:0000926	Platyspondyly	59341	TRPV4	OMIM:184095
HP:0000926	Platyspondyly	1302	COL11A2	OMIM:184840
HP:0000926	Platyspondyly	1302	COL11A2	OMIM:614524
HP:0000926	Platyspondyly	1302	COL11A2	OMIM:215150
HP:0000926	Platyspondyly	1302	COL11A2	ORPHA:1427
HP:0000926	Platyspondyly	633	BGN	OMIM:300106
HP:0000926	Platyspondyly	649	BMP1	OMIM:614856
HP:0000926	Platyspondyly	64132	XYLT2	ORPHA:85194
HP:0000926	Platyspondyly	64132	XYLT2	OMIM:605822
HP:0000926	Platyspondyly	4322	MMP13	OMIM:602111
HP:0000926	Platyspondyly	5593	PRKG2	OMIM:619638
HP:0000926	Platyspondyly	5593	PRKG2	OMIM:619636
HP:0000926	Platyspondyly	10013	HDAC6	ORPHA:163966
HP:0000926	Platyspondyly	10013	HDAC6	OMIM:300863
HP:0000926	Platyspondyly	9719	ADAMTSL2	OMIM:231050
HP:0000926	Platyspondyly	4952	OCRL	OMIM:309000
HP:0000926	Platyspondyly	4952	OCRL	ORPHA:534
HP:0000926	Platyspondyly	1311	COMP	OMIM:177170
HP:0000926	Platyspondyly	1311	COMP	ORPHA:750
HP:0000926	Platyspondyly	4089	SMAD4	OMIM:139210
HP:0000926	Platyspondyly	4089	SMAD4	ORPHA:2588
HP:0000926	Platyspondyly	9321	TRIP11	OMIM:184260
HP:0000926	Platyspondyly	9321	TRIP11	ORPHA:166272
HP:0000926	Platyspondyly	50485	SMARCAL1	ORPHA:1830
HP:0000926	Platyspondyly	50485	SMARCAL1	OMIM:242900
HP:0000926	Platyspondyly	2316	FLNA	OMIM:304120
HP:0000926	Platyspondyly	3911	LAMA5	OMIM:620076
HP:0000926	Platyspondyly	124583	CANT1	OMIM:251450
HP:0000926	Platyspondyly	124583	CANT1	OMIM:617719
HP:0000926	Platyspondyly	3930	LBR	OMIM:215140
HP:0000926	Platyspondyly	3930	LBR	OMIM:618019
HP:0000926	Platyspondyly	3930	LBR	ORPHA:1426
HP:0000926	Platyspondyly	5373	PMM2	ORPHA:79318
HP:0000926	Platyspondyly	2260	FGFR1	OMIM:166250
HP:0000926	Platyspondyly	3339	HSPG2	OMIM:255800
HP:0000926	Platyspondyly	3339	HSPG2	ORPHA:800
HP:0000926	Platyspondyly	100151683	RNU4ATAC	ORPHA:1824
HP:0000926	Platyspondyly	100151683	RNU4ATAC	OMIM:210710
HP:0000926	Platyspondyly	387733	IFITM5	OMIM:610967
HP:0000926	Platyspondyly	91252	SLC39A13	ORPHA:157965
HP:0000926	Platyspondyly	91252	SLC39A13	OMIM:612350
HP:0000926	Platyspondyly	1297	COL9A1	ORPHA:250984
HP:0000926	Platyspondyly	1297	COL9A1	OMIM:614134
HP:0000926	Platyspondyly	1298	COL9A2	ORPHA:250984
HP:0000926	Platyspondyly	1299	COL9A3	ORPHA:250984
HP:0000926	Platyspondyly	54808	DYM	ORPHA:239
HP:0000926	Platyspondyly	54808	DYM	OMIM:607326
HP:0000926	Platyspondyly	54808	DYM	OMIM:223800
HP:0000926	Platyspondyly	2879	GPX4	OMIM:250220
HP:0000926	Platyspondyly	2879	GPX4	ORPHA:93317
HP:0000926	Platyspondyly	4921	DDR2	OMIM:271665
HP:0000926	Platyspondyly	65992	DDRGK1	OMIM:602557
HP:0000926	Platyspondyly	65992	DDRGK1	ORPHA:93352
HP:0000926	Platyspondyly	5351	PLOD1	OMIM:225400
HP:0000926	Platyspondyly	2335	FN1	ORPHA:93315
HP:0000926	Platyspondyly	89970	RSPRY1	OMIM:616723
HP:0000926	Platyspondyly	89970	RSPRY1	ORPHA:457395
HP:0000926	Platyspondyly	90459	ERI1	OMIM:620663
HP:0000926	Platyspondyly	90459	ERI1	OMIM:620662
HP:0000926	Platyspondyly	4054	LTBP3	OMIM:601216
HP:0000926	Platyspondyly	1436	CSF1R	OMIM:618476
HP:0000926	Platyspondyly	9871	SEC24D	OMIM:616294
HP:0000926	Platyspondyly	4041	LRP5	OMIM:259770
HP:0000926	Platyspondyly	3417	IDH1	ORPHA:99646
HP:0000926	Platyspondyly	153642	ARSK	OMIM:619698
HP:0000926	Platyspondyly	64131	XYLT1	OMIM:615777
HP:0000926	Platyspondyly	1277	COL1A1	OMIM:166210
HP:0000926	Platyspondyly	1278	COL1A2	OMIM:166210
HP:0000926	Platyspondyly	92344	GORAB	OMIM:231070
HP:0000926	Platyspondyly	92344	GORAB	ORPHA:2078
HP:0000926	Platyspondyly	6678	SPARC	OMIM:616507
HP:0000926	Platyspondyly	5745	PTH1R	ORPHA:50945
HP:0000926	Platyspondyly	9451	EIF2AK3	OMIM:226980
HP:0000926	Platyspondyly	8985	PLOD3	OMIM:612394
HP:0000926	Platyspondyly	6023	RMRP	OMIM:607095
HP:0000926	Platyspondyly	175	AGA	OMIM:208400
HP:0000926	Platyspondyly	3835	KIF22	ORPHA:93360
HP:0000926	Platyspondyly	64841	GNPNAT1	OMIM:619598
HP:0000926	Platyspondyly	6424	SFRP4	OMIM:265900
HP:0000926	Platyspondyly	2588	GALNS	OMIM:253000
HP:0000926	Platyspondyly	55325	UFSP2	OMIM:617974
HP:0000926	Platyspondyly	29957	SLC25A24	OMIM:612289
HP:0000926	Platyspondyly	60681	FKBP10	ORPHA:2771
HP:0000926	Platyspondyly	60681	FKBP10	OMIM:259450
HP:0000926	Platyspondyly	9060	PAPSS2	OMIM:612847
HP:0000926	Platyspondyly	4796	TONSL	ORPHA:93357
HP:0000926	Platyspondyly	4796	TONSL	OMIM:271510
HP:0000926	Platyspondyly	4148	MATN3	OMIM:608728
HP:0000926	Platyspondyly	25839	COG4	OMIM:618150
HP:0000926	Platyspondyly	25839	COG4	ORPHA:85172
HP:0000926	Platyspondyly	5130	PCYT1A	ORPHA:85167
HP:0000926	Platyspondyly	5130	PCYT1A	OMIM:608940
HP:0000926	Platyspondyly	23233	EXOC6B	OMIM:618395
HP:0000926	Platyspondyly	112752	IFT43	OMIM:617866
HP:0000926	Platyspondyly	202018	TAPT1	OMIM:616897
HP:0000926	Platyspondyly	28957	MRPS28	OMIM:618958
HP:0000926	Platyspondyly	23169	SLC35D1	OMIM:269250
HP:0000926	Platyspondyly	126792	B3GALT6	OMIM:271640
HP:0000926	Platyspondyly	126792	B3GALT6	ORPHA:536467
HP:0000926	Platyspondyly	126792	B3GALT6	OMIM:615349
HP:0000926	Platyspondyly	1836	SLC26A2	OMIM:256050
HP:0000926	Platyspondyly	11014	KDELR2	OMIM:619131
HP:0000926	Platyspondyly	100	ADA	OMIM:102700
HP:0000926	Platyspondyly	2990	GUSB	OMIM:253220
HP:0000926	Platyspondyly	6137	RPL13	OMIM:618728
HP:0000926	Platyspondyly	10312	TCIRG1	ORPHA:1782
HP:0000926	Platyspondyly	55315	SLC29A3	ORPHA:1782
HP:0000926	Platyspondyly	8792	TNFRSF11A	ORPHA:1782
HP:0000926	Platyspondyly	54187	NANS	OMIM:610442
HP:0000926	Platyspondyly	5831	PYCR1	ORPHA:2078
HP:0000926	Platyspondyly	5479	PPIB	OMIM:259440
HP:0000926	Platyspondyly	166929	SGMS2	OMIM:126550
HP:0000926	Platyspondyly	9469	CHST3	OMIM:245600
HP:0000926	Platyspondyly	26229	B3GAT3	OMIM:245600
HP:0000926	Platyspondyly	860	RUNX2	OMIM:156510
HP:0000926	Platyspondyly	375056	MIA3	OMIM:619269
HP:0000926	Platyspondyly	83452	RAB33B	OMIM:615222
HP:0000926	Platyspondyly	7471	WNT1	OMIM:615220
HP:0000926	Platyspondyly	7543	ZFX	OMIM:301118
HP:0000926	Platyspondyly	25871	NEPRO	OMIM:618853
HP:0000926	Platyspondyly	871	SERPINH1	OMIM:613848
HP:0000926	Platyspondyly	2517	FUCA1	OMIM:230000
HP:0000926	Platyspondyly	57647	DHX37	OMIM:618731
HP:0000926	Platyspondyly	51025	PAM16	OMIM:613320
HP:0000926	Platyspondyly	23187	PHLDB1	OMIM:620639
HP:0000926	Platyspondyly	3636	INPPL1	OMIM:258480
HP:0000926	Platyspondyly	4149	MAX	OMIM:620712
HP:0000926	Platyspondyly	5331	PLCB3	OMIM:618961
HP:0000926	Platyspondyly	3955	LFNG	OMIM:609813
HP:0010940	Aplasia/Hypoplasia of the nasal bone	124590	USH1G	OMIM:606943
HP:0010940	Aplasia/Hypoplasia of the nasal bone	4796	TONSL	ORPHA:93357
HP:0010940	Aplasia/Hypoplasia of the nasal bone	29957	SLC25A24	ORPHA:2095
HP:0010940	Aplasia/Hypoplasia of the nasal bone	4659	PPP1R12A	OMIM:618820
HP:0010940	Aplasia/Hypoplasia of the nasal bone	5159	PDGFRB	OMIM:601812
HP:0010940	Aplasia/Hypoplasia of the nasal bone	6496	SIX3	OMIM:157170
HP:0010940	Aplasia/Hypoplasia of the nasal bone	60529	ALX4	OMIM:613451
HP:0010941	Aplasia of the nasal bone	4659	PPP1R12A	OMIM:618820
HP:0010941	Aplasia of the nasal bone	5159	PDGFRB	OMIM:601812
HP:0010941	Aplasia of the nasal bone	4796	TONSL	ORPHA:93357
HP:0010941	Aplasia of the nasal bone	6496	SIX3	OMIM:157170
HP:0010941	Aplasia of the nasal bone	60529	ALX4	OMIM:613451
HP:0010942	Echogenic intracardiac focus	6263	RYR3	OMIM:620310
HP:0010942	Echogenic intracardiac focus	5879	RAC1	OMIM:617751
HP:0010943	Echogenic fetal bowel	3930	LBR	OMIM:215140
HP:0010943	Echogenic fetal bowel	2783	GNB2	OMIM:619503
HP:0010943	Echogenic fetal bowel	374879	ZNF699	OMIM:619488
HP:0010943	Echogenic fetal bowel	8085	KMT2D	OMIM:620186
HP:0010943	Echogenic fetal bowel	84992	PIGY	OMIM:616809
HP:0010944	Abnormal renal pelvis morphology	6095	RORA	OMIM:618060
HP:0010944	Abnormal renal pelvis morphology	7528	YY1	ORPHA:506358
HP:0010944	Abnormal renal pelvis morphology	7528	YY1	OMIM:617557
HP:0010944	Abnormal renal pelvis morphology	3376	IARS1	OMIM:617093
HP:0010944	Abnormal renal pelvis morphology	3376	IARS1	ORPHA:541423
HP:0010944	Abnormal renal pelvis morphology	26235	FBXL4	OMIM:615471
HP:0010944	Abnormal renal pelvis morphology	9860	LRIG2	OMIM:615112
HP:0010944	Abnormal renal pelvis morphology	9860	LRIG2	ORPHA:2704
HP:0010944	Abnormal renal pelvis morphology	5339	PLEC	ORPHA:158684
HP:0010944	Abnormal renal pelvis morphology	3691	ITGB4	ORPHA:158684
HP:0010944	Abnormal renal pelvis morphology	3691	ITGB4	ORPHA:79403
HP:0010944	Abnormal renal pelvis morphology	8425	LTBP4	OMIM:613177
HP:0010944	Abnormal renal pelvis morphology	1161	ERCC8	ORPHA:90324
HP:0010944	Abnormal renal pelvis morphology	2074	ERCC6	ORPHA:90324
HP:0010944	Abnormal renal pelvis morphology	23556	PIGN	ORPHA:2059
HP:0010944	Abnormal renal pelvis morphology	23556	PIGN	OMIM:614080
HP:0010944	Abnormal renal pelvis morphology	23556	PIGN	ORPHA:280633
HP:0010944	Abnormal renal pelvis morphology	9231	DLG5	OMIM:620703
HP:0010944	Abnormal renal pelvis morphology	673	BRAF	OMIM:115150
HP:0010944	Abnormal renal pelvis morphology	673	BRAF	ORPHA:1340
HP:0010944	Abnormal renal pelvis morphology	8195	MKKS	OMIM:236700
HP:0010944	Abnormal renal pelvis morphology	8195	MKKS	ORPHA:110
HP:0010944	Abnormal renal pelvis morphology	8195	MKKS	ORPHA:2473
HP:0010944	Abnormal renal pelvis morphology	81857	MED25	OMIM:616449
HP:0010944	Abnormal renal pelvis morphology	81857	MED25	ORPHA:464738
HP:0010944	Abnormal renal pelvis morphology	145173	B3GLCT	ORPHA:709
HP:0010944	Abnormal renal pelvis morphology	145173	B3GLCT	OMIM:261540
HP:0010944	Abnormal renal pelvis morphology	4774	NFIA	OMIM:613735
HP:0010944	Abnormal renal pelvis morphology	538	ATP7A	OMIM:304150
HP:0010944	Abnormal renal pelvis morphology	64220	STRA6	OMIM:601186
HP:0010944	Abnormal renal pelvis morphology	126792	B3GALT6	OMIM:609465
HP:0010944	Abnormal renal pelvis morphology	1131	CHRM3	OMIM:100100
HP:0010944	Abnormal renal pelvis morphology	64324	NSD1	ORPHA:821
HP:0010944	Abnormal renal pelvis morphology	10297	APC2	ORPHA:821
HP:0010944	Abnormal renal pelvis morphology	10093	ARPC4	OMIM:620141
HP:0010944	Abnormal renal pelvis morphology	3655	ITGA6	ORPHA:79403
HP:0010944	Abnormal renal pelvis morphology	3909	LAMA3	ORPHA:79404
HP:0010944	Abnormal renal pelvis morphology	3918	LAMC2	ORPHA:79404
HP:0010944	Abnormal renal pelvis morphology	3914	LAMB3	ORPHA:79404
HP:0010944	Abnormal renal pelvis morphology	6662	SOX9	ORPHA:140
HP:0010944	Abnormal renal pelvis morphology	6662	SOX9	OMIM:114290
HP:0010944	Abnormal renal pelvis morphology	197131	UBR1	OMIM:243800
HP:0010944	Abnormal renal pelvis morphology	197131	UBR1	ORPHA:2315
HP:0010944	Abnormal renal pelvis morphology	55112	DYNC2I1	ORPHA:93271
HP:0010944	Abnormal renal pelvis morphology	57560	IFT80	ORPHA:93271
HP:0010944	Abnormal renal pelvis morphology	57539	WDR35	ORPHA:93271
HP:0010944	Abnormal renal pelvis morphology	79659	DYNC2H1	ORPHA:93271
HP:0010944	Abnormal renal pelvis morphology	89891	DYNC2I2	ORPHA:93271
HP:0010944	Abnormal renal pelvis morphology	2782	GNB1	ORPHA:488613
HP:0010944	Abnormal renal pelvis morphology	2782	GNB1	OMIM:616973
HP:0010944	Abnormal renal pelvis morphology	1717	DHCR7	ORPHA:818
HP:0010944	Abnormal renal pelvis morphology	1717	DHCR7	OMIM:270400
HP:0010944	Abnormal renal pelvis morphology	9915	ARNT2	OMIM:615926
HP:0010944	Abnormal renal pelvis morphology	55636	CHD7	ORPHA:138
HP:0010944	Abnormal renal pelvis morphology	55636	CHD7	OMIM:214800
HP:0010944	Abnormal renal pelvis morphology	9723	SEMA3E	ORPHA:138
HP:0010944	Abnormal renal pelvis morphology	9382	COG1	OMIM:611209
HP:0010944	Abnormal renal pelvis morphology	5189	PEX1	OMIM:214100
HP:0010944	Abnormal renal pelvis morphology	5189	PEX1	ORPHA:912
HP:0010944	Abnormal renal pelvis morphology	2263	FGFR2	ORPHA:93260
HP:0010944	Abnormal renal pelvis morphology	2263	FGFR2	ORPHA:2363
HP:0010944	Abnormal renal pelvis morphology	2263	FGFR2	OMIM:101200
HP:0010944	Abnormal renal pelvis morphology	84992	PIGY	ORPHA:247262
HP:0010944	Abnormal renal pelvis morphology	84720	PIGO	ORPHA:247262
HP:0010944	Abnormal renal pelvis morphology	93210	PGAP3	ORPHA:247262
HP:0010944	Abnormal renal pelvis morphology	284098	PIGW	ORPHA:247262
HP:0010944	Abnormal renal pelvis morphology	27315	PGAP2	ORPHA:247262
HP:0010944	Abnormal renal pelvis morphology	55650	PIGV	ORPHA:247262
HP:0010944	Abnormal renal pelvis morphology	9487	PIGL	ORPHA:247262
HP:0010944	Abnormal renal pelvis morphology	9487	PIGL	ORPHA:3474
HP:0010944	Abnormal renal pelvis morphology	9487	PIGL	OMIM:280000
HP:0010944	Abnormal renal pelvis morphology	4001	LMNB1	OMIM:619179
HP:0010944	Abnormal renal pelvis morphology	51360	MBTPS2	ORPHA:2273
HP:0010944	Abnormal renal pelvis morphology	57492	ARID1B	OMIM:135900
HP:0010944	Abnormal renal pelvis morphology	25885	POLR1A	OMIM:616462
HP:0010944	Abnormal renal pelvis morphology	1136	CHRNA3	OMIM:191800
HP:0010944	Abnormal renal pelvis morphology	113189	CHST14	ORPHA:2953
HP:0010944	Abnormal renal pelvis morphology	113189	CHST14	OMIM:601776
HP:0010944	Abnormal renal pelvis morphology	29940	DSE	ORPHA:2953
HP:0010944	Abnormal renal pelvis morphology	50814	NSDHL	OMIM:308050
HP:0010944	Abnormal renal pelvis morphology	23522	KAT6B	OMIM:606170
HP:0010944	Abnormal renal pelvis morphology	23522	KAT6B	ORPHA:85201
HP:0010944	Abnormal renal pelvis morphology	815	CAMK2A	OMIM:617798
HP:0010944	Abnormal renal pelvis morphology	92579	G6PC3	OMIM:612541
HP:0010944	Abnormal renal pelvis morphology	7994	KAT6A	ORPHA:457193
HP:0010944	Abnormal renal pelvis morphology	7994	KAT6A	OMIM:616268
HP:0010944	Abnormal renal pelvis morphology	64359	NXN	ORPHA:1507
HP:0010944	Abnormal renal pelvis morphology	4920	ROR2	ORPHA:1507
HP:0010944	Abnormal renal pelvis morphology	4920	ROR2	OMIM:268310
HP:0010944	Abnormal renal pelvis morphology	546	ATRX	ORPHA:847
HP:0010944	Abnormal renal pelvis morphology	546	ATRX	OMIM:301040
HP:0010944	Abnormal renal pelvis morphology	23116	TOGARAM1	OMIM:619185
HP:0010944	Abnormal renal pelvis morphology	6899	TBX1	OMIM:188400
HP:0010944	Abnormal renal pelvis morphology	6899	TBX1	ORPHA:1727
HP:0010944	Abnormal renal pelvis morphology	7466	WFS1	OMIM:222300
HP:0010944	Abnormal renal pelvis morphology	4763	NF1	ORPHA:363700
HP:0010944	Abnormal renal pelvis morphology	1656	DDX6	OMIM:618653
HP:0010944	Abnormal renal pelvis morphology	10682	EBP	ORPHA:35173
HP:0010944	Abnormal renal pelvis morphology	10682	EBP	OMIM:302960
HP:0010944	Abnormal renal pelvis morphology	79813	EHMT1	OMIM:610253
HP:0010944	Abnormal renal pelvis morphology	60495	HPSE2	ORPHA:2704
HP:0010944	Abnormal renal pelvis morphology	60495	HPSE2	OMIM:236730
HP:0010944	Abnormal renal pelvis morphology	7020	TFAP2A	ORPHA:1297
HP:0010944	Abnormal renal pelvis morphology	11193	WBP4	OMIM:620852
HP:0010944	Abnormal renal pelvis morphology	9096	TBX18	OMIM:143400
HP:0010944	Abnormal renal pelvis morphology	26040	SETBP1	OMIM:269150
HP:0010944	Abnormal renal pelvis morphology	26040	SETBP1	ORPHA:798
HP:0010944	Abnormal renal pelvis morphology	2316	FLNA	ORPHA:90652
HP:0010944	Abnormal renal pelvis morphology	2316	FLNA	ORPHA:2484
HP:0010944	Abnormal renal pelvis morphology	2316	FLNA	OMIM:304120
HP:0010944	Abnormal renal pelvis morphology	2316	FLNA	ORPHA:1826
HP:0010944	Abnormal renal pelvis morphology	2316	FLNA	OMIM:309350
HP:0010944	Abnormal renal pelvis morphology	2316	FLNA	OMIM:305620
HP:0010944	Abnormal renal pelvis morphology	2316	FLNA	OMIM:300048
HP:0010944	Abnormal renal pelvis morphology	8241	RBM10	OMIM:311900
HP:0010944	Abnormal renal pelvis morphology	8241	RBM10	ORPHA:2886
HP:0010944	Abnormal renal pelvis morphology	5337	PLD1	OMIM:212093
HP:0010944	Abnormal renal pelvis morphology	3981	LIG4	ORPHA:235
HP:0010944	Abnormal renal pelvis morphology	54888	NSUN2	ORPHA:235
HP:0010944	Abnormal renal pelvis morphology	92482	BBIP1	ORPHA:110
HP:0010944	Abnormal renal pelvis morphology	80184	CEP290	ORPHA:110
HP:0010944	Abnormal renal pelvis morphology	11020	IFT27	ORPHA:110
HP:0010944	Abnormal renal pelvis morphology	11020	IFT27	OMIM:615996
HP:0010944	Abnormal renal pelvis morphology	582	BBS1	ORPHA:110
HP:0010944	Abnormal renal pelvis morphology	49855	SCAPER	ORPHA:110
HP:0010944	Abnormal renal pelvis morphology	4867	NPHP1	ORPHA:110
HP:0010944	Abnormal renal pelvis morphology	51057	WDPCP	ORPHA:110
HP:0010944	Abnormal renal pelvis morphology	132320	SCLT1	ORPHA:110
HP:0010944	Abnormal renal pelvis morphology	27241	BBS9	ORPHA:110
HP:0010944	Abnormal renal pelvis morphology	84984	CEP19	ORPHA:110
HP:0010944	Abnormal renal pelvis morphology	22954	TRIM32	ORPHA:110
HP:0010944	Abnormal renal pelvis morphology	54903	MKS1	ORPHA:110
HP:0010944	Abnormal renal pelvis morphology	79738	BBS10	ORPHA:110
HP:0010944	Abnormal renal pelvis morphology	123016	TTC8	ORPHA:110
HP:0010944	Abnormal renal pelvis morphology	26160	IFT172	ORPHA:110
HP:0010944	Abnormal renal pelvis morphology	585	BBS4	ORPHA:110
HP:0010944	Abnormal renal pelvis morphology	54585	LZTFL1	ORPHA:110
HP:0010944	Abnormal renal pelvis morphology	55212	BBS7	ORPHA:110
HP:0010944	Abnormal renal pelvis morphology	166379	BBS12	ORPHA:110
HP:0010944	Abnormal renal pelvis morphology	166379	BBS12	OMIM:615989
HP:0010944	Abnormal renal pelvis morphology	10806	SDCCAG8	ORPHA:110
HP:0010944	Abnormal renal pelvis morphology	157657	CFAP418	ORPHA:110
HP:0010944	Abnormal renal pelvis morphology	84100	ARL6	ORPHA:110
HP:0010944	Abnormal renal pelvis morphology	129880	BBS5	ORPHA:110
HP:0010944	Abnormal renal pelvis morphology	80173	IFT74	ORPHA:110
HP:0010944	Abnormal renal pelvis morphology	54914	FOCAD	OMIM:619991
HP:0010944	Abnormal renal pelvis morphology	4613	MYCN	OMIM:620748
HP:0010944	Abnormal renal pelvis morphology	4613	MYCN	ORPHA:391641
HP:0010944	Abnormal renal pelvis morphology	7498	XDH	OMIM:278300
HP:0010944	Abnormal renal pelvis morphology	8239	USP9X	ORPHA:480880
HP:0010944	Abnormal renal pelvis morphology	8239	USP9X	OMIM:300968
HP:0010944	Abnormal renal pelvis morphology	5590	PRKCZ	ORPHA:1606
HP:0010944	Abnormal renal pelvis morphology	2563	GABRD	ORPHA:1606
HP:0010944	Abnormal renal pelvis morphology	23013	SPEN	ORPHA:1606
HP:0010944	Abnormal renal pelvis morphology	8510	MMP23B	ORPHA:1606
HP:0010944	Abnormal renal pelvis morphology	7798	LUZP1	ORPHA:1606
HP:0010944	Abnormal renal pelvis morphology	6497	SKI	ORPHA:1606
HP:0010944	Abnormal renal pelvis morphology	10630	PDPN	ORPHA:1606
HP:0010944	Abnormal renal pelvis morphology	3339	HSPG2	ORPHA:1606
HP:0010944	Abnormal renal pelvis morphology	10277	UBE4B	ORPHA:1606
HP:0010944	Abnormal renal pelvis morphology	8514	KCNAB2	ORPHA:1606
HP:0010944	Abnormal renal pelvis morphology	473	RERE	ORPHA:1606
HP:0010944	Abnormal renal pelvis morphology	63976	PRDM16	ORPHA:1606
HP:0010944	Abnormal renal pelvis morphology	54897	CASZ1	ORPHA:1606
HP:0010944	Abnormal renal pelvis morphology	1493	CTLA4	ORPHA:900
HP:0010944	Abnormal renal pelvis morphology	26191	PTPN22	ORPHA:900
HP:0010944	Abnormal renal pelvis morphology	3115	HLA-DPB1	ORPHA:900
HP:0010944	Abnormal renal pelvis morphology	5657	PRTN3	ORPHA:900
HP:0010944	Abnormal renal pelvis morphology	3113	HLA-DPA1	ORPHA:900
HP:0010944	Abnormal renal pelvis morphology	2138	EYA1	ORPHA:107
HP:0010944	Abnormal renal pelvis morphology	147912	SIX5	ORPHA:107
HP:0010944	Abnormal renal pelvis morphology	6495	SIX1	ORPHA:107
HP:0010944	Abnormal renal pelvis morphology	79796	ALG9	ORPHA:79328
HP:0010944	Abnormal renal pelvis morphology	7547	ZIC3	OMIM:314390
HP:0010944	Abnormal renal pelvis morphology	2187	FANCB	OMIM:314390
HP:0010944	Abnormal renal pelvis morphology	8314	BAP1	OMIM:619762
HP:0010944	Abnormal renal pelvis morphology	7750	ZMYM2	OMIM:619522
HP:0010944	Abnormal renal pelvis morphology	11041	B4GAT1	OMIM:615287
HP:0010944	Abnormal renal pelvis morphology	2261	FGFR3	ORPHA:2363
HP:0010944	Abnormal renal pelvis morphology	2255	FGF10	ORPHA:2363
HP:0010944	Abnormal renal pelvis morphology	57466	SCAF4	OMIM:620511
HP:0010944	Abnormal renal pelvis morphology	79971	WLS	OMIM:619648
HP:0010944	Abnormal renal pelvis morphology	2065	ERBB3	OMIM:607598
HP:0010944	Abnormal renal pelvis morphology	11128	POLR3A	ORPHA:3455
HP:0010944	Abnormal renal pelvis morphology	9968	MED12	OMIM:301068
HP:0010944	Abnormal renal pelvis morphology	2625	GATA3	ORPHA:2237
HP:0010944	Abnormal renal pelvis morphology	64321	SOX17	OMIM:613674
HP:0010944	Abnormal renal pelvis morphology	25836	NIPBL	OMIM:122470
HP:0010944	Abnormal renal pelvis morphology	50628	GEMIN4	OMIM:617913
HP:0010944	Abnormal renal pelvis morphology	6885	MAP3K7	ORPHA:1826
HP:0010944	Abnormal renal pelvis morphology	147372	CCBE1	OMIM:235510
HP:0010944	Abnormal renal pelvis morphology	8295	TRRAP	OMIM:618454
HP:0010944	Abnormal renal pelvis morphology	9851	KIAA0753	OMIM:617127
HP:0010944	Abnormal renal pelvis morphology	5081	PAX7	OMIM:618578
HP:0010944	Abnormal renal pelvis morphology	1642	DDB1	OMIM:619426
HP:0010944	Abnormal renal pelvis morphology	63895	PIEZO2	ORPHA:2461
HP:0010944	Abnormal renal pelvis morphology	55670	PEX26	ORPHA:912
HP:0010944	Abnormal renal pelvis morphology	5824	PEX19	ORPHA:912
HP:0010944	Abnormal renal pelvis morphology	5828	PEX2	ORPHA:912
HP:0010944	Abnormal renal pelvis morphology	8504	PEX3	ORPHA:912
HP:0010944	Abnormal renal pelvis morphology	8799	PEX11B	ORPHA:912
HP:0010944	Abnormal renal pelvis morphology	9409	PEX16	ORPHA:912
HP:0010944	Abnormal renal pelvis morphology	5190	PEX6	ORPHA:912
HP:0010944	Abnormal renal pelvis morphology	5830	PEX5	ORPHA:912
HP:0010944	Abnormal renal pelvis morphology	5193	PEX12	ORPHA:912
HP:0010944	Abnormal renal pelvis morphology	5194	PEX13	ORPHA:912
HP:0010944	Abnormal renal pelvis morphology	5195	PEX14	ORPHA:912
HP:0010944	Abnormal renal pelvis morphology	5192	PEX10	ORPHA:912
HP:0010944	Abnormal renal pelvis morphology	80000	GREB1L	OMIM:617805
HP:0010944	Abnormal renal pelvis morphology	91949	COG7	OMIM:608779
HP:0010944	Abnormal renal pelvis morphology	9759	HDAC4	OMIM:619797
HP:0010944	Abnormal renal pelvis morphology	54892	NCAPG2	OMIM:618460
HP:0010944	Abnormal renal pelvis morphology	72	ACTG2	OMIM:619431
HP:0010944	Abnormal renal pelvis morphology	72	ACTG2	OMIM:155310
HP:0010944	Abnormal renal pelvis morphology	4683	NBN	OMIM:251260
HP:0010944	Abnormal renal pelvis morphology	5648	MASP1	OMIM:257920
HP:0010944	Abnormal renal pelvis morphology	90459	ERI1	OMIM:620663
HP:0010944	Abnormal renal pelvis morphology	90459	ERI1	OMIM:620662
HP:0010944	Abnormal renal pelvis morphology	57167	SALL4	OMIM:607323
HP:0010944	Abnormal renal pelvis morphology	8626	TP63	OMIM:604292
HP:0010944	Abnormal renal pelvis morphology	8626	TP63	ORPHA:1896
HP:0010944	Abnormal renal pelvis morphology	55593	OTUD5	OMIM:301056
HP:0010944	Abnormal renal pelvis morphology	2972	BRF1	ORPHA:444072
HP:0010944	Abnormal renal pelvis morphology	1387	CREBBP	ORPHA:353281
HP:0010944	Abnormal renal pelvis morphology	1387	CREBBP	OMIM:180849
HP:0010944	Abnormal renal pelvis morphology	1387	CREBBP	ORPHA:353277
HP:0010944	Abnormal renal pelvis morphology	388015	RTL1	ORPHA:254528
HP:0010944	Abnormal renal pelvis morphology	8788	DLK1	ORPHA:254528
HP:0010944	Abnormal renal pelvis morphology	55384	MEG3	ORPHA:254528
HP:0010944	Abnormal renal pelvis morphology	8085	KMT2D	ORPHA:2322
HP:0010944	Abnormal renal pelvis morphology	8085	KMT2D	OMIM:147920
HP:0010944	Abnormal renal pelvis morphology	7403	KDM6A	ORPHA:2322
HP:0010944	Abnormal renal pelvis morphology	7403	KDM6A	OMIM:147920
HP:0010944	Abnormal renal pelvis morphology	998	CDC42	OMIM:616737
HP:0010944	Abnormal renal pelvis morphology	998	CDC42	ORPHA:487796
HP:0010944	Abnormal renal pelvis morphology	2033	EP300	ORPHA:353284
HP:0010944	Abnormal renal pelvis morphology	2033	EP300	OMIM:180849
HP:0010944	Abnormal renal pelvis morphology	389827	MYMK	ORPHA:1358
HP:0010944	Abnormal renal pelvis morphology	101929726	MYMX	ORPHA:1358
HP:0010944	Abnormal renal pelvis morphology	56975	FAM20C	OMIM:259775
HP:0010944	Abnormal renal pelvis morphology	25915	NDUFAF3	OMIM:618240
HP:0010944	Abnormal renal pelvis morphology	9401	RECQL4	ORPHA:1225
HP:0010944	Abnormal renal pelvis morphology	400569	MED11	OMIM:620327
HP:0010944	Abnormal renal pelvis morphology	5604	MAP2K1	ORPHA:1340
HP:0010944	Abnormal renal pelvis morphology	5605	MAP2K2	ORPHA:1340
HP:0010944	Abnormal renal pelvis morphology	2019	EN1	OMIM:619218
HP:0010944	Abnormal renal pelvis morphology	1063	CENPF	OMIM:243605
HP:0010944	Abnormal renal pelvis morphology	8260	NAA10	ORPHA:568
HP:0010944	Abnormal renal pelvis morphology	54880	BCOR	ORPHA:568
HP:0010944	Abnormal renal pelvis morphology	6469	SHH	OMIM:142945
HP:0010944	Abnormal renal pelvis morphology	23111	SPART	ORPHA:101000
HP:0010944	Abnormal renal pelvis morphology	1822	ATN1	OMIM:618494
HP:0010944	Abnormal renal pelvis morphology	2260	FGFR1	OMIM:613001
HP:0010944	Abnormal renal pelvis morphology	6811	STX5	OMIM:620454
HP:0010944	Abnormal renal pelvis morphology	2313	FLI1	ORPHA:2308
HP:0010944	Abnormal renal pelvis morphology	2737	GLI3	OMIM:146510
HP:0010944	Abnormal renal pelvis morphology	760	CA2	ORPHA:2785
HP:0010944	Abnormal renal pelvis morphology	64864	RFX7	OMIM:620330
HP:0010944	Abnormal renal pelvis morphology	1499	CTNNB1	ORPHA:873
HP:0010944	Abnormal renal pelvis morphology	324	APC	ORPHA:873
HP:0010944	Abnormal renal pelvis morphology	64840	PORCN	OMIM:305600
HP:0010944	Abnormal renal pelvis morphology	64840	PORCN	ORPHA:2092
HP:0010944	Abnormal renal pelvis morphology	10526	IPO8	OMIM:619472
HP:0010944	Abnormal renal pelvis morphology	2892	GRIA3	ORPHA:364028
HP:0010944	Abnormal renal pelvis morphology	5530	PPP3CA	OMIM:618265
HP:0010944	Abnormal renal pelvis morphology	975	CD81	OMIM:613496
HP:0010944	Abnormal renal pelvis morphology	92002	CCNQ	OMIM:300707
HP:0010944	Abnormal renal pelvis morphology	526	ATP6V1B2	ORPHA:79500
HP:0010944	Abnormal renal pelvis morphology	57465	TBC1D24	ORPHA:79500
HP:0010944	Abnormal renal pelvis morphology	80781	COL18A1	OMIM:267750
HP:0010944	Abnormal renal pelvis morphology	8204	NRIP1	OMIM:618270
HP:0010944	Abnormal renal pelvis morphology	55617	TASP1	OMIM:618950
HP:0010944	Abnormal renal pelvis morphology	51715	RAB23	OMIM:201000
HP:0010944	Abnormal renal pelvis morphology	25802	LMOD1	OMIM:619362
HP:0010944	Abnormal renal pelvis morphology	202018	TAPT1	OMIM:616897
HP:0010944	Abnormal renal pelvis morphology	1028	CDKN1C	ORPHA:85173
HP:0010944	Abnormal renal pelvis morphology	5426	POLE	ORPHA:85173
HP:0010944	Abnormal renal pelvis morphology	1376	CPT2	OMIM:608836
HP:0010944	Abnormal renal pelvis morphology	403	ARL3	OMIM:618161
HP:0010944	Abnormal renal pelvis morphology	9897	WASHC5	OMIM:220210
HP:0010944	Abnormal renal pelvis morphology	9897	WASHC5	ORPHA:7
HP:0010944	Abnormal renal pelvis morphology	5889	RAD51C	OMIM:613390
HP:0010944	Abnormal renal pelvis morphology	100151683	RNU4ATAC	ORPHA:2636
HP:0010944	Abnormal renal pelvis morphology	10491	CRTAP	OMIM:610682
HP:0010944	Abnormal renal pelvis morphology	5236	PGM1	OMIM:614921
HP:0010944	Abnormal renal pelvis morphology	10295	BCKDK	OMIM:614923
HP:0010944	Abnormal renal pelvis morphology	8481	OFD1	ORPHA:2750
HP:0010944	Abnormal renal pelvis morphology	219844	HYLS1	OMIM:236680
HP:0010944	Abnormal renal pelvis morphology	22930	RAB3GAP1	ORPHA:2510
HP:0010944	Abnormal renal pelvis morphology	25782	RAB3GAP2	ORPHA:2510
HP:0010944	Abnormal renal pelvis morphology	22931	RAB18	ORPHA:2510
HP:0010944	Abnormal renal pelvis morphology	128637	TBC1D20	ORPHA:2510
HP:0010944	Abnormal renal pelvis morphology	71	ACTG1	ORPHA:2995
HP:0010944	Abnormal renal pelvis morphology	60	ACTB	ORPHA:2995
HP:0010944	Abnormal renal pelvis morphology	7474	WNT5A	OMIM:180700
HP:0010944	Abnormal renal pelvis morphology	1855	DVL1	OMIM:180700
HP:0010944	Abnormal renal pelvis morphology	3239	HOXD13	ORPHA:887
HP:0010944	Abnormal renal pelvis morphology	28952	CCDC22	ORPHA:7
HP:0010944	Abnormal renal pelvis morphology	57020	VPS35L	ORPHA:7
HP:0010944	Abnormal renal pelvis morphology	56896	DPYSL5	ORPHA:7
HP:0010944	Abnormal renal pelvis morphology	6913	TBX15	OMIM:260660
HP:0010944	Abnormal renal pelvis morphology	375056	MIA3	OMIM:619269
HP:0010944	Abnormal renal pelvis morphology	7543	ZFX	OMIM:301118
HP:0010944	Abnormal renal pelvis morphology	4281	MID1	ORPHA:2745
HP:0010944	Abnormal renal pelvis morphology	4654	MYOD1	OMIM:618975
HP:0010944	Abnormal renal pelvis morphology	11005	SPINK5	ORPHA:634
HP:0010944	Abnormal renal pelvis morphology	284252	KCTD1	ORPHA:2036
HP:0010944	Abnormal renal pelvis morphology	2719	GPC3	OMIM:312870
HP:0010944	Abnormal renal pelvis morphology	2719	GPC3	ORPHA:654
HP:0010944	Abnormal renal pelvis morphology	2239	GPC4	OMIM:312870
HP:0010944	Abnormal renal pelvis morphology	9839	ZEB2	ORPHA:261552
HP:0010944	Abnormal renal pelvis morphology	388662	SLC6A17	ORPHA:457212
HP:0010944	Abnormal renal pelvis morphology	5978	REST	ORPHA:654
HP:0010944	Abnormal renal pelvis morphology	129563	DIS3L2	ORPHA:654
HP:0010944	Abnormal renal pelvis morphology	675	BRCA2	ORPHA:654
HP:0010944	Abnormal renal pelvis morphology	9319	TRIP13	ORPHA:654
HP:0010944	Abnormal renal pelvis morphology	7490	WT1	ORPHA:654
HP:0010944	Abnormal renal pelvis morphology	10155	TRIM28	ORPHA:654
HP:0010944	Abnormal renal pelvis morphology	11281	POU6F2	ORPHA:654
HP:0010944	Abnormal renal pelvis morphology	283120	H19	ORPHA:654
HP:0010944	Abnormal renal pelvis morphology	2258	FGF13	OMIM:301058
HP:0010944	Abnormal renal pelvis morphology	284058	KANSL1	ORPHA:363965
HP:0010944	Abnormal renal pelvis morphology	284058	KANSL1	ORPHA:363958
HP:0010944	Abnormal renal pelvis morphology	9578	CDC42BPB	OMIM:619841
HP:0010944	Abnormal renal pelvis morphology	1182	CLCN3	OMIM:619512
HP:0010944	Abnormal renal pelvis morphology	5297	PI4KA	OMIM:616531
HP:0010944	Abnormal renal pelvis morphology	10398	MYL9	OMIM:619365
HP:0010944	Abnormal renal pelvis morphology	93627	TBCK	OMIM:616900
HP:0010944	Abnormal renal pelvis morphology	10472	ZBTB18	OMIM:612337
HP:0010944	Abnormal renal pelvis morphology	54796	BNC2	ORPHA:93110
HP:0010944	Abnormal renal pelvis morphology	9203	ZMYM3	OMIM:301111
HP:0010944	Abnormal renal pelvis morphology	2294	FOXF1	OMIM:265380
HP:0010944	Abnormal renal pelvis morphology	27077	B9D1	OMIM:617120
HP:0010944	Abnormal renal pelvis morphology	3190	HNRNPK	OMIM:616580
HP:0010944	Abnormal renal pelvis morphology	91179	SCARF2	OMIM:600920
HP:0010944	Abnormal renal pelvis morphology	79989	IFT56	OMIM:619534
HP:0010944	Abnormal renal pelvis morphology	583	BBS2	OMIM:615981
HP:0010944	Abnormal renal pelvis morphology	1859	DYRK1A	ORPHA:268261
HP:0010944	Abnormal renal pelvis morphology	10847	SRCAP	ORPHA:2044
HP:0010944	Abnormal renal pelvis morphology	22800	RRAS2	ORPHA:648
HP:0010944	Abnormal renal pelvis morphology	867	CBL	ORPHA:648
HP:0010944	Abnormal renal pelvis morphology	8216	LZTR1	ORPHA:648
HP:0010944	Abnormal renal pelvis morphology	6016	RIT1	ORPHA:648
HP:0010944	Abnormal renal pelvis morphology	6237	RRAS	ORPHA:648
HP:0010944	Abnormal renal pelvis morphology	5894	RAF1	ORPHA:648
HP:0010944	Abnormal renal pelvis morphology	22808	MRAS	ORPHA:648
HP:0010944	Abnormal renal pelvis morphology	3845	KRAS	ORPHA:648
HP:0010944	Abnormal renal pelvis morphology	200734	SPRED2	ORPHA:648
HP:0010944	Abnormal renal pelvis morphology	4893	NRAS	ORPHA:648
HP:0010944	Abnormal renal pelvis morphology	6654	SOS1	ORPHA:648
HP:0010944	Abnormal renal pelvis morphology	6655	SOS2	ORPHA:648
HP:0010944	Abnormal renal pelvis morphology	5781	PTPN11	ORPHA:648
HP:0010944	Abnormal renal pelvis morphology	5922	RASA2	ORPHA:648
HP:0010944	Abnormal renal pelvis morphology	51163	DBR1	OMIM:620510
HP:0010944	Abnormal renal pelvis morphology	9939	RBM8A	OMIM:274000
HP:0010944	Abnormal renal pelvis morphology	5447	POR	ORPHA:95699
HP:0010944	Abnormal renal pelvis morphology	2271	FH	OMIM:606812
HP:0010944	Abnormal renal pelvis morphology	5277	PIGA	OMIM:300868
HP:0010945	Fetal pyelectasis	2258	FGF13	OMIM:301058
HP:0010945	Fetal pyelectasis	284058	KANSL1	ORPHA:363965
HP:0010945	Fetal pyelectasis	284058	KANSL1	ORPHA:363958
HP:0010945	Fetal pyelectasis	9578	CDC42BPB	OMIM:619841
HP:0010945	Fetal pyelectasis	1182	CLCN3	OMIM:619512
HP:0010945	Fetal pyelectasis	5297	PI4KA	OMIM:616531
HP:0010945	Fetal pyelectasis	10398	MYL9	OMIM:619365
HP:0010945	Fetal pyelectasis	93627	TBCK	OMIM:616900
HP:0010945	Fetal pyelectasis	10472	ZBTB18	OMIM:612337
HP:0010945	Fetal pyelectasis	54796	BNC2	ORPHA:93110
HP:0010945	Fetal pyelectasis	2271	FH	OMIM:606812
HP:0010945	Fetal pyelectasis	5277	PIGA	OMIM:300868
HP:0010946	Dilatation of the renal pelvis	6095	RORA	OMIM:618060
HP:0010946	Dilatation of the renal pelvis	7528	YY1	ORPHA:506358
HP:0010946	Dilatation of the renal pelvis	7528	YY1	OMIM:617557
HP:0010946	Dilatation of the renal pelvis	3376	IARS1	OMIM:617093
HP:0010946	Dilatation of the renal pelvis	3376	IARS1	ORPHA:541423
HP:0010946	Dilatation of the renal pelvis	26235	FBXL4	OMIM:615471
HP:0010946	Dilatation of the renal pelvis	9860	LRIG2	OMIM:615112
HP:0010946	Dilatation of the renal pelvis	9860	LRIG2	ORPHA:2704
HP:0010946	Dilatation of the renal pelvis	5339	PLEC	ORPHA:158684
HP:0010946	Dilatation of the renal pelvis	3691	ITGB4	ORPHA:158684
HP:0010946	Dilatation of the renal pelvis	3691	ITGB4	ORPHA:79403
HP:0010946	Dilatation of the renal pelvis	8425	LTBP4	OMIM:613177
HP:0010946	Dilatation of the renal pelvis	1161	ERCC8	ORPHA:90324
HP:0010946	Dilatation of the renal pelvis	2074	ERCC6	ORPHA:90324
HP:0010946	Dilatation of the renal pelvis	23556	PIGN	ORPHA:2059
HP:0010946	Dilatation of the renal pelvis	23556	PIGN	OMIM:614080
HP:0010946	Dilatation of the renal pelvis	23556	PIGN	ORPHA:280633
HP:0010946	Dilatation of the renal pelvis	9231	DLG5	OMIM:620703
HP:0010946	Dilatation of the renal pelvis	673	BRAF	OMIM:115150
HP:0010946	Dilatation of the renal pelvis	673	BRAF	ORPHA:1340
HP:0010946	Dilatation of the renal pelvis	8195	MKKS	OMIM:236700
HP:0010946	Dilatation of the renal pelvis	8195	MKKS	ORPHA:110
HP:0010946	Dilatation of the renal pelvis	8195	MKKS	ORPHA:2473
HP:0010946	Dilatation of the renal pelvis	81857	MED25	OMIM:616449
HP:0010946	Dilatation of the renal pelvis	81857	MED25	ORPHA:464738
HP:0010946	Dilatation of the renal pelvis	145173	B3GLCT	ORPHA:709
HP:0010946	Dilatation of the renal pelvis	145173	B3GLCT	OMIM:261540
HP:0010946	Dilatation of the renal pelvis	4774	NFIA	OMIM:613735
HP:0010946	Dilatation of the renal pelvis	538	ATP7A	OMIM:304150
HP:0010946	Dilatation of the renal pelvis	64220	STRA6	OMIM:601186
HP:0010946	Dilatation of the renal pelvis	126792	B3GALT6	OMIM:609465
HP:0010946	Dilatation of the renal pelvis	1131	CHRM3	OMIM:100100
HP:0010946	Dilatation of the renal pelvis	64324	NSD1	ORPHA:821
HP:0010946	Dilatation of the renal pelvis	10297	APC2	ORPHA:821
HP:0010946	Dilatation of the renal pelvis	10093	ARPC4	OMIM:620141
HP:0010946	Dilatation of the renal pelvis	3655	ITGA6	ORPHA:79403
HP:0010946	Dilatation of the renal pelvis	3909	LAMA3	ORPHA:79404
HP:0010946	Dilatation of the renal pelvis	3918	LAMC2	ORPHA:79404
HP:0010946	Dilatation of the renal pelvis	3914	LAMB3	ORPHA:79404
HP:0010946	Dilatation of the renal pelvis	6662	SOX9	ORPHA:140
HP:0010946	Dilatation of the renal pelvis	6662	SOX9	OMIM:114290
HP:0010946	Dilatation of the renal pelvis	197131	UBR1	OMIM:243800
HP:0010946	Dilatation of the renal pelvis	197131	UBR1	ORPHA:2315
HP:0010946	Dilatation of the renal pelvis	55112	DYNC2I1	ORPHA:93271
HP:0010946	Dilatation of the renal pelvis	57560	IFT80	ORPHA:93271
HP:0010946	Dilatation of the renal pelvis	57539	WDR35	ORPHA:93271
HP:0010946	Dilatation of the renal pelvis	79659	DYNC2H1	ORPHA:93271
HP:0010946	Dilatation of the renal pelvis	89891	DYNC2I2	ORPHA:93271
HP:0010946	Dilatation of the renal pelvis	2782	GNB1	ORPHA:488613
HP:0010946	Dilatation of the renal pelvis	2782	GNB1	OMIM:616973
HP:0010946	Dilatation of the renal pelvis	1717	DHCR7	ORPHA:818
HP:0010946	Dilatation of the renal pelvis	1717	DHCR7	OMIM:270400
HP:0010946	Dilatation of the renal pelvis	9915	ARNT2	OMIM:615926
HP:0010946	Dilatation of the renal pelvis	55636	CHD7	ORPHA:138
HP:0010946	Dilatation of the renal pelvis	55636	CHD7	OMIM:214800
HP:0010946	Dilatation of the renal pelvis	9723	SEMA3E	ORPHA:138
HP:0010946	Dilatation of the renal pelvis	9382	COG1	OMIM:611209
HP:0010946	Dilatation of the renal pelvis	5189	PEX1	OMIM:214100
HP:0010946	Dilatation of the renal pelvis	5189	PEX1	ORPHA:912
HP:0010946	Dilatation of the renal pelvis	2263	FGFR2	ORPHA:93260
HP:0010946	Dilatation of the renal pelvis	2263	FGFR2	ORPHA:2363
HP:0010946	Dilatation of the renal pelvis	2263	FGFR2	OMIM:101200
HP:0010946	Dilatation of the renal pelvis	84992	PIGY	ORPHA:247262
HP:0010946	Dilatation of the renal pelvis	84720	PIGO	ORPHA:247262
HP:0010946	Dilatation of the renal pelvis	93210	PGAP3	ORPHA:247262
HP:0010946	Dilatation of the renal pelvis	284098	PIGW	ORPHA:247262
HP:0010946	Dilatation of the renal pelvis	27315	PGAP2	ORPHA:247262
HP:0010946	Dilatation of the renal pelvis	55650	PIGV	ORPHA:247262
HP:0010946	Dilatation of the renal pelvis	9487	PIGL	ORPHA:247262
HP:0010946	Dilatation of the renal pelvis	9487	PIGL	ORPHA:3474
HP:0010946	Dilatation of the renal pelvis	9487	PIGL	OMIM:280000
HP:0010946	Dilatation of the renal pelvis	4001	LMNB1	OMIM:619179
HP:0010946	Dilatation of the renal pelvis	51360	MBTPS2	ORPHA:2273
HP:0010946	Dilatation of the renal pelvis	57492	ARID1B	OMIM:135900
HP:0010946	Dilatation of the renal pelvis	284058	KANSL1	ORPHA:363958
HP:0010946	Dilatation of the renal pelvis	284058	KANSL1	ORPHA:363965
HP:0010946	Dilatation of the renal pelvis	284058	KANSL1	OMIM:610443
HP:0010946	Dilatation of the renal pelvis	25885	POLR1A	OMIM:616462
HP:0010946	Dilatation of the renal pelvis	1136	CHRNA3	OMIM:191800
HP:0010946	Dilatation of the renal pelvis	113189	CHST14	ORPHA:2953
HP:0010946	Dilatation of the renal pelvis	113189	CHST14	OMIM:601776
HP:0010946	Dilatation of the renal pelvis	29940	DSE	ORPHA:2953
HP:0010946	Dilatation of the renal pelvis	50814	NSDHL	OMIM:308050
HP:0010946	Dilatation of the renal pelvis	23522	KAT6B	OMIM:606170
HP:0010946	Dilatation of the renal pelvis	23522	KAT6B	ORPHA:85201
HP:0010946	Dilatation of the renal pelvis	815	CAMK2A	OMIM:617798
HP:0010946	Dilatation of the renal pelvis	92579	G6PC3	OMIM:612541
HP:0010946	Dilatation of the renal pelvis	7994	KAT6A	ORPHA:457193
HP:0010946	Dilatation of the renal pelvis	7994	KAT6A	OMIM:616268
HP:0010946	Dilatation of the renal pelvis	64359	NXN	ORPHA:1507
HP:0010946	Dilatation of the renal pelvis	4920	ROR2	ORPHA:1507
HP:0010946	Dilatation of the renal pelvis	4920	ROR2	OMIM:268310
HP:0010946	Dilatation of the renal pelvis	546	ATRX	ORPHA:847
HP:0010946	Dilatation of the renal pelvis	546	ATRX	OMIM:301040
HP:0010946	Dilatation of the renal pelvis	23116	TOGARAM1	OMIM:619185
HP:0010946	Dilatation of the renal pelvis	6899	TBX1	OMIM:188400
HP:0010946	Dilatation of the renal pelvis	6899	TBX1	ORPHA:1727
HP:0010946	Dilatation of the renal pelvis	7466	WFS1	OMIM:222300
HP:0010946	Dilatation of the renal pelvis	9839	ZEB2	ORPHA:261552
HP:0010946	Dilatation of the renal pelvis	9839	ZEB2	ORPHA:261537
HP:0010946	Dilatation of the renal pelvis	4763	NF1	ORPHA:363700
HP:0010946	Dilatation of the renal pelvis	1656	DDX6	OMIM:618653
HP:0010946	Dilatation of the renal pelvis	10682	EBP	ORPHA:35173
HP:0010946	Dilatation of the renal pelvis	10682	EBP	OMIM:302960
HP:0010946	Dilatation of the renal pelvis	79813	EHMT1	OMIM:610253
HP:0010946	Dilatation of the renal pelvis	60495	HPSE2	ORPHA:2704
HP:0010946	Dilatation of the renal pelvis	60495	HPSE2	OMIM:236730
HP:0010946	Dilatation of the renal pelvis	7020	TFAP2A	ORPHA:1297
HP:0010946	Dilatation of the renal pelvis	11193	WBP4	OMIM:620852
HP:0010946	Dilatation of the renal pelvis	9096	TBX18	OMIM:143400
HP:0010946	Dilatation of the renal pelvis	26040	SETBP1	OMIM:269150
HP:0010946	Dilatation of the renal pelvis	26040	SETBP1	ORPHA:798
HP:0010946	Dilatation of the renal pelvis	2316	FLNA	ORPHA:90652
HP:0010946	Dilatation of the renal pelvis	2316	FLNA	ORPHA:2484
HP:0010946	Dilatation of the renal pelvis	2316	FLNA	OMIM:304120
HP:0010946	Dilatation of the renal pelvis	2316	FLNA	ORPHA:1826
HP:0010946	Dilatation of the renal pelvis	2316	FLNA	OMIM:309350
HP:0010946	Dilatation of the renal pelvis	2316	FLNA	OMIM:305620
HP:0010946	Dilatation of the renal pelvis	2316	FLNA	OMIM:300048
HP:0010946	Dilatation of the renal pelvis	8241	RBM10	OMIM:311900
HP:0010946	Dilatation of the renal pelvis	8241	RBM10	ORPHA:2886
HP:0010946	Dilatation of the renal pelvis	5337	PLD1	OMIM:212093
HP:0010946	Dilatation of the renal pelvis	3981	LIG4	ORPHA:235
HP:0010946	Dilatation of the renal pelvis	54888	NSUN2	ORPHA:235
HP:0010946	Dilatation of the renal pelvis	92482	BBIP1	ORPHA:110
HP:0010946	Dilatation of the renal pelvis	80184	CEP290	ORPHA:110
HP:0010946	Dilatation of the renal pelvis	11020	IFT27	ORPHA:110
HP:0010946	Dilatation of the renal pelvis	11020	IFT27	OMIM:615996
HP:0010946	Dilatation of the renal pelvis	582	BBS1	ORPHA:110
HP:0010946	Dilatation of the renal pelvis	49855	SCAPER	ORPHA:110
HP:0010946	Dilatation of the renal pelvis	4867	NPHP1	ORPHA:110
HP:0010946	Dilatation of the renal pelvis	51057	WDPCP	ORPHA:110
HP:0010946	Dilatation of the renal pelvis	132320	SCLT1	ORPHA:110
HP:0010946	Dilatation of the renal pelvis	27241	BBS9	ORPHA:110
HP:0010946	Dilatation of the renal pelvis	84984	CEP19	ORPHA:110
HP:0010946	Dilatation of the renal pelvis	22954	TRIM32	ORPHA:110
HP:0010946	Dilatation of the renal pelvis	54903	MKS1	ORPHA:110
HP:0010946	Dilatation of the renal pelvis	79738	BBS10	ORPHA:110
HP:0010946	Dilatation of the renal pelvis	123016	TTC8	ORPHA:110
HP:0010946	Dilatation of the renal pelvis	26160	IFT172	ORPHA:110
HP:0010946	Dilatation of the renal pelvis	585	BBS4	ORPHA:110
HP:0010946	Dilatation of the renal pelvis	54585	LZTFL1	ORPHA:110
HP:0010946	Dilatation of the renal pelvis	55212	BBS7	ORPHA:110
HP:0010946	Dilatation of the renal pelvis	166379	BBS12	ORPHA:110
HP:0010946	Dilatation of the renal pelvis	166379	BBS12	OMIM:615989
HP:0010946	Dilatation of the renal pelvis	10806	SDCCAG8	ORPHA:110
HP:0010946	Dilatation of the renal pelvis	157657	CFAP418	ORPHA:110
HP:0010946	Dilatation of the renal pelvis	84100	ARL6	ORPHA:110
HP:0010946	Dilatation of the renal pelvis	129880	BBS5	ORPHA:110
HP:0010946	Dilatation of the renal pelvis	80173	IFT74	ORPHA:110
HP:0010946	Dilatation of the renal pelvis	54914	FOCAD	OMIM:619991
HP:0010946	Dilatation of the renal pelvis	4613	MYCN	OMIM:620748
HP:0010946	Dilatation of the renal pelvis	4613	MYCN	ORPHA:391641
HP:0010946	Dilatation of the renal pelvis	7498	XDH	OMIM:278300
HP:0010946	Dilatation of the renal pelvis	8239	USP9X	ORPHA:480880
HP:0010946	Dilatation of the renal pelvis	8239	USP9X	OMIM:300968
HP:0010946	Dilatation of the renal pelvis	5590	PRKCZ	ORPHA:1606
HP:0010946	Dilatation of the renal pelvis	2563	GABRD	ORPHA:1606
HP:0010946	Dilatation of the renal pelvis	23013	SPEN	ORPHA:1606
HP:0010946	Dilatation of the renal pelvis	8510	MMP23B	ORPHA:1606
HP:0010946	Dilatation of the renal pelvis	7798	LUZP1	ORPHA:1606
HP:0010946	Dilatation of the renal pelvis	6497	SKI	ORPHA:1606
HP:0010946	Dilatation of the renal pelvis	10630	PDPN	ORPHA:1606
HP:0010946	Dilatation of the renal pelvis	3339	HSPG2	ORPHA:1606
HP:0010946	Dilatation of the renal pelvis	10277	UBE4B	ORPHA:1606
HP:0010946	Dilatation of the renal pelvis	8514	KCNAB2	ORPHA:1606
HP:0010946	Dilatation of the renal pelvis	473	RERE	ORPHA:1606
HP:0010946	Dilatation of the renal pelvis	63976	PRDM16	ORPHA:1606
HP:0010946	Dilatation of the renal pelvis	54897	CASZ1	ORPHA:1606
HP:0010946	Dilatation of the renal pelvis	1493	CTLA4	ORPHA:900
HP:0010946	Dilatation of the renal pelvis	26191	PTPN22	ORPHA:900
HP:0010946	Dilatation of the renal pelvis	3115	HLA-DPB1	ORPHA:900
HP:0010946	Dilatation of the renal pelvis	5657	PRTN3	ORPHA:900
HP:0010946	Dilatation of the renal pelvis	3113	HLA-DPA1	ORPHA:900
HP:0010946	Dilatation of the renal pelvis	2138	EYA1	ORPHA:107
HP:0010946	Dilatation of the renal pelvis	147912	SIX5	ORPHA:107
HP:0010946	Dilatation of the renal pelvis	6495	SIX1	ORPHA:107
HP:0010946	Dilatation of the renal pelvis	79796	ALG9	ORPHA:79328
HP:0010946	Dilatation of the renal pelvis	7547	ZIC3	OMIM:314390
HP:0010946	Dilatation of the renal pelvis	2187	FANCB	OMIM:314390
HP:0010946	Dilatation of the renal pelvis	8314	BAP1	OMIM:619762
HP:0010946	Dilatation of the renal pelvis	7750	ZMYM2	OMIM:619522
HP:0010946	Dilatation of the renal pelvis	11041	B4GAT1	OMIM:615287
HP:0010946	Dilatation of the renal pelvis	2261	FGFR3	ORPHA:2363
HP:0010946	Dilatation of the renal pelvis	2255	FGF10	ORPHA:2363
HP:0010946	Dilatation of the renal pelvis	57466	SCAF4	OMIM:620511
HP:0010946	Dilatation of the renal pelvis	79971	WLS	OMIM:619648
HP:0010946	Dilatation of the renal pelvis	2065	ERBB3	OMIM:607598
HP:0010946	Dilatation of the renal pelvis	11128	POLR3A	ORPHA:3455
HP:0010946	Dilatation of the renal pelvis	9968	MED12	OMIM:301068
HP:0010946	Dilatation of the renal pelvis	2239	GPC4	ORPHA:373
HP:0010946	Dilatation of the renal pelvis	2239	GPC4	OMIM:312870
HP:0010946	Dilatation of the renal pelvis	2719	GPC3	ORPHA:373
HP:0010946	Dilatation of the renal pelvis	2719	GPC3	OMIM:312870
HP:0010946	Dilatation of the renal pelvis	2625	GATA3	ORPHA:2237
HP:0010946	Dilatation of the renal pelvis	64321	SOX17	OMIM:613674
HP:0010946	Dilatation of the renal pelvis	25836	NIPBL	OMIM:122470
HP:0010946	Dilatation of the renal pelvis	50628	GEMIN4	OMIM:617913
HP:0010946	Dilatation of the renal pelvis	6885	MAP3K7	ORPHA:1826
HP:0010946	Dilatation of the renal pelvis	147372	CCBE1	OMIM:235510
HP:0010946	Dilatation of the renal pelvis	8295	TRRAP	OMIM:618454
HP:0010946	Dilatation of the renal pelvis	9851	KIAA0753	OMIM:617127
HP:0010946	Dilatation of the renal pelvis	5081	PAX7	OMIM:618578
HP:0010946	Dilatation of the renal pelvis	1642	DDB1	OMIM:619426
HP:0010946	Dilatation of the renal pelvis	63895	PIEZO2	ORPHA:2461
HP:0010946	Dilatation of the renal pelvis	55670	PEX26	ORPHA:912
HP:0010946	Dilatation of the renal pelvis	5824	PEX19	ORPHA:912
HP:0010946	Dilatation of the renal pelvis	5828	PEX2	ORPHA:912
HP:0010946	Dilatation of the renal pelvis	8504	PEX3	ORPHA:912
HP:0010946	Dilatation of the renal pelvis	8799	PEX11B	ORPHA:912
HP:0010946	Dilatation of the renal pelvis	9409	PEX16	ORPHA:912
HP:0010946	Dilatation of the renal pelvis	5190	PEX6	ORPHA:912
HP:0010946	Dilatation of the renal pelvis	5830	PEX5	ORPHA:912
HP:0010946	Dilatation of the renal pelvis	5193	PEX12	ORPHA:912
HP:0010946	Dilatation of the renal pelvis	5194	PEX13	ORPHA:912
HP:0010946	Dilatation of the renal pelvis	5195	PEX14	ORPHA:912
HP:0010946	Dilatation of the renal pelvis	5192	PEX10	ORPHA:912
HP:0010946	Dilatation of the renal pelvis	80000	GREB1L	OMIM:617805
HP:0010946	Dilatation of the renal pelvis	91949	COG7	OMIM:608779
HP:0010946	Dilatation of the renal pelvis	9759	HDAC4	OMIM:619797
HP:0010946	Dilatation of the renal pelvis	54892	NCAPG2	OMIM:618460
HP:0010946	Dilatation of the renal pelvis	72	ACTG2	OMIM:619431
HP:0010946	Dilatation of the renal pelvis	72	ACTG2	OMIM:155310
HP:0010946	Dilatation of the renal pelvis	4683	NBN	OMIM:251260
HP:0010946	Dilatation of the renal pelvis	5648	MASP1	OMIM:257920
HP:0010946	Dilatation of the renal pelvis	90459	ERI1	OMIM:620663
HP:0010946	Dilatation of the renal pelvis	90459	ERI1	OMIM:620662
HP:0010946	Dilatation of the renal pelvis	57167	SALL4	OMIM:607323
HP:0010946	Dilatation of the renal pelvis	8626	TP63	OMIM:604292
HP:0010946	Dilatation of the renal pelvis	8626	TP63	ORPHA:1896
HP:0010946	Dilatation of the renal pelvis	55593	OTUD5	OMIM:301056
HP:0010946	Dilatation of the renal pelvis	2972	BRF1	ORPHA:444072
HP:0010946	Dilatation of the renal pelvis	1387	CREBBP	ORPHA:353281
HP:0010946	Dilatation of the renal pelvis	1387	CREBBP	OMIM:180849
HP:0010946	Dilatation of the renal pelvis	1387	CREBBP	ORPHA:353277
HP:0010946	Dilatation of the renal pelvis	388015	RTL1	ORPHA:254528
HP:0010946	Dilatation of the renal pelvis	8788	DLK1	ORPHA:254528
HP:0010946	Dilatation of the renal pelvis	55384	MEG3	ORPHA:254528
HP:0010946	Dilatation of the renal pelvis	8085	KMT2D	ORPHA:2322
HP:0010946	Dilatation of the renal pelvis	8085	KMT2D	OMIM:147920
HP:0010946	Dilatation of the renal pelvis	7403	KDM6A	ORPHA:2322
HP:0010946	Dilatation of the renal pelvis	7403	KDM6A	OMIM:147920
HP:0010946	Dilatation of the renal pelvis	998	CDC42	OMIM:616737
HP:0010946	Dilatation of the renal pelvis	998	CDC42	ORPHA:487796
HP:0010946	Dilatation of the renal pelvis	2033	EP300	ORPHA:353284
HP:0010946	Dilatation of the renal pelvis	2033	EP300	OMIM:180849
HP:0010946	Dilatation of the renal pelvis	389827	MYMK	ORPHA:1358
HP:0010946	Dilatation of the renal pelvis	101929726	MYMX	ORPHA:1358
HP:0010946	Dilatation of the renal pelvis	56975	FAM20C	OMIM:259775
HP:0010946	Dilatation of the renal pelvis	25915	NDUFAF3	OMIM:618240
HP:0010946	Dilatation of the renal pelvis	9401	RECQL4	ORPHA:1225
HP:0010946	Dilatation of the renal pelvis	400569	MED11	OMIM:620327
HP:0010946	Dilatation of the renal pelvis	5604	MAP2K1	ORPHA:1340
HP:0010946	Dilatation of the renal pelvis	5605	MAP2K2	ORPHA:1340
HP:0010946	Dilatation of the renal pelvis	2019	EN1	OMIM:619218
HP:0010946	Dilatation of the renal pelvis	1063	CENPF	OMIM:243605
HP:0010946	Dilatation of the renal pelvis	8260	NAA10	ORPHA:568
HP:0010946	Dilatation of the renal pelvis	54880	BCOR	ORPHA:568
HP:0010946	Dilatation of the renal pelvis	6469	SHH	OMIM:142945
HP:0010946	Dilatation of the renal pelvis	23111	SPART	ORPHA:101000
HP:0010946	Dilatation of the renal pelvis	5277	PIGA	OMIM:300868
HP:0010946	Dilatation of the renal pelvis	1822	ATN1	OMIM:618494
HP:0010946	Dilatation of the renal pelvis	2260	FGFR1	OMIM:613001
HP:0010946	Dilatation of the renal pelvis	6811	STX5	OMIM:620454
HP:0010946	Dilatation of the renal pelvis	2313	FLI1	ORPHA:2308
HP:0010946	Dilatation of the renal pelvis	2737	GLI3	OMIM:146510
HP:0010946	Dilatation of the renal pelvis	760	CA2	ORPHA:2785
HP:0010946	Dilatation of the renal pelvis	64864	RFX7	OMIM:620330
HP:0010946	Dilatation of the renal pelvis	1499	CTNNB1	ORPHA:873
HP:0010946	Dilatation of the renal pelvis	324	APC	ORPHA:873
HP:0010946	Dilatation of the renal pelvis	64840	PORCN	OMIM:305600
HP:0010946	Dilatation of the renal pelvis	64840	PORCN	ORPHA:2092
HP:0010946	Dilatation of the renal pelvis	10526	IPO8	OMIM:619472
HP:0010946	Dilatation of the renal pelvis	2892	GRIA3	ORPHA:364028
HP:0010946	Dilatation of the renal pelvis	5530	PPP3CA	OMIM:618265
HP:0010946	Dilatation of the renal pelvis	975	CD81	OMIM:613496
HP:0010946	Dilatation of the renal pelvis	92002	CCNQ	OMIM:300707
HP:0010946	Dilatation of the renal pelvis	54796	BNC2	ORPHA:93110
HP:0010946	Dilatation of the renal pelvis	526	ATP6V1B2	ORPHA:79500
HP:0010946	Dilatation of the renal pelvis	57465	TBC1D24	ORPHA:79500
HP:0010946	Dilatation of the renal pelvis	80781	COL18A1	OMIM:267750
HP:0010946	Dilatation of the renal pelvis	8204	NRIP1	OMIM:618270
HP:0010946	Dilatation of the renal pelvis	55617	TASP1	OMIM:618950
HP:0010946	Dilatation of the renal pelvis	51715	RAB23	OMIM:201000
HP:0010946	Dilatation of the renal pelvis	25802	LMOD1	OMIM:619362
HP:0010946	Dilatation of the renal pelvis	202018	TAPT1	OMIM:616897
HP:0010946	Dilatation of the renal pelvis	1028	CDKN1C	ORPHA:85173
HP:0010946	Dilatation of the renal pelvis	5426	POLE	ORPHA:85173
HP:0010946	Dilatation of the renal pelvis	1376	CPT2	OMIM:608836
HP:0010946	Dilatation of the renal pelvis	403	ARL3	OMIM:618161
HP:0010946	Dilatation of the renal pelvis	9897	WASHC5	OMIM:220210
HP:0010946	Dilatation of the renal pelvis	9897	WASHC5	ORPHA:7
HP:0010946	Dilatation of the renal pelvis	5889	RAD51C	OMIM:613390
HP:0010946	Dilatation of the renal pelvis	100151683	RNU4ATAC	ORPHA:2636
HP:0010946	Dilatation of the renal pelvis	10491	CRTAP	OMIM:610682
HP:0010946	Dilatation of the renal pelvis	5236	PGM1	OMIM:614921
HP:0010946	Dilatation of the renal pelvis	10295	BCKDK	OMIM:614923
HP:0010946	Dilatation of the renal pelvis	8481	OFD1	ORPHA:2750
HP:0010946	Dilatation of the renal pelvis	219844	HYLS1	OMIM:236680
HP:0010946	Dilatation of the renal pelvis	22930	RAB3GAP1	ORPHA:2510
HP:0010946	Dilatation of the renal pelvis	25782	RAB3GAP2	ORPHA:2510
HP:0010946	Dilatation of the renal pelvis	22931	RAB18	ORPHA:2510
HP:0010946	Dilatation of the renal pelvis	128637	TBC1D20	ORPHA:2510
HP:0010946	Dilatation of the renal pelvis	71	ACTG1	ORPHA:2995
HP:0010946	Dilatation of the renal pelvis	60	ACTB	ORPHA:2995
HP:0010946	Dilatation of the renal pelvis	7474	WNT5A	OMIM:180700
HP:0010946	Dilatation of the renal pelvis	1855	DVL1	OMIM:180700
HP:0010946	Dilatation of the renal pelvis	3239	HOXD13	ORPHA:887
HP:0010946	Dilatation of the renal pelvis	28952	CCDC22	ORPHA:7
HP:0010946	Dilatation of the renal pelvis	57020	VPS35L	ORPHA:7
HP:0010946	Dilatation of the renal pelvis	56896	DPYSL5	ORPHA:7
HP:0010946	Dilatation of the renal pelvis	6913	TBX15	OMIM:260660
HP:0010946	Dilatation of the renal pelvis	375056	MIA3	OMIM:619269
HP:0010946	Dilatation of the renal pelvis	7543	ZFX	OMIM:301118
HP:0010946	Dilatation of the renal pelvis	4281	MID1	ORPHA:2745
HP:0010946	Dilatation of the renal pelvis	4654	MYOD1	OMIM:618975
HP:0010946	Dilatation of the renal pelvis	11005	SPINK5	ORPHA:634
HP:0010946	Dilatation of the renal pelvis	9203	ZMYM3	OMIM:301111
HP:0010946	Dilatation of the renal pelvis	2294	FOXF1	OMIM:265380
HP:0010946	Dilatation of the renal pelvis	27077	B9D1	OMIM:617120
HP:0010946	Dilatation of the renal pelvis	3190	HNRNPK	OMIM:616580
HP:0010946	Dilatation of the renal pelvis	91179	SCARF2	OMIM:600920
HP:0010946	Dilatation of the renal pelvis	79989	IFT56	OMIM:619534
HP:0010946	Dilatation of the renal pelvis	583	BBS2	OMIM:615981
HP:0010946	Dilatation of the renal pelvis	1859	DYRK1A	ORPHA:268261
HP:0010946	Dilatation of the renal pelvis	10847	SRCAP	ORPHA:2044
HP:0010946	Dilatation of the renal pelvis	22800	RRAS2	ORPHA:648
HP:0010946	Dilatation of the renal pelvis	867	CBL	ORPHA:648
HP:0010946	Dilatation of the renal pelvis	8216	LZTR1	ORPHA:648
HP:0010946	Dilatation of the renal pelvis	6016	RIT1	ORPHA:648
HP:0010946	Dilatation of the renal pelvis	6237	RRAS	ORPHA:648
HP:0010946	Dilatation of the renal pelvis	5894	RAF1	ORPHA:648
HP:0010946	Dilatation of the renal pelvis	22808	MRAS	ORPHA:648
HP:0010946	Dilatation of the renal pelvis	3845	KRAS	ORPHA:648
HP:0010946	Dilatation of the renal pelvis	200734	SPRED2	ORPHA:648
HP:0010946	Dilatation of the renal pelvis	4893	NRAS	ORPHA:648
HP:0010946	Dilatation of the renal pelvis	6654	SOS1	ORPHA:648
HP:0010946	Dilatation of the renal pelvis	6655	SOS2	ORPHA:648
HP:0010946	Dilatation of the renal pelvis	5781	PTPN11	ORPHA:648
HP:0010946	Dilatation of the renal pelvis	5922	RASA2	ORPHA:648
HP:0010946	Dilatation of the renal pelvis	51163	DBR1	OMIM:620510
HP:0010946	Dilatation of the renal pelvis	9939	RBM8A	OMIM:274000
HP:0010946	Dilatation of the renal pelvis	5297	PI4KA	OMIM:619708
HP:0010946	Dilatation of the renal pelvis	5447	POR	ORPHA:95699
HP:0010948	Abnormal fetal cardiovascular morphology	2294	FOXF1	OMIM:265380
HP:0010948	Abnormal fetal cardiovascular morphology	2294	FOXF1	ORPHA:210122
HP:0010948	Abnormal fetal cardiovascular morphology	7490	WT1	OMIM:608978
HP:0010948	Abnormal fetal cardiovascular morphology	5447	POR	OMIM:201750
HP:0010948	Abnormal fetal cardiovascular morphology	5977	DPF2	OMIM:618027
HP:0010948	Abnormal fetal cardiovascular morphology	2187	FANCB	OMIM:300514
HP:0010948	Abnormal fetal cardiovascular morphology	2187	FANCB	ORPHA:3412
HP:0010948	Abnormal fetal cardiovascular morphology	2627	GATA6	ORPHA:2255
HP:0010948	Abnormal fetal cardiovascular morphology	2627	GATA6	OMIM:600001
HP:0010948	Abnormal fetal cardiovascular morphology	4076	CAPRIN1	OMIM:620782
HP:0010948	Abnormal fetal cardiovascular morphology	374879	ZNF699	OMIM:619488
HP:0010948	Abnormal fetal cardiovascular morphology	91179	SCARF2	OMIM:600920
HP:0010948	Abnormal fetal cardiovascular morphology	117581	TWIST2	OMIM:200110
HP:0010948	Abnormal fetal cardiovascular morphology	54870	QRICH1	OMIM:617982
HP:0010948	Abnormal fetal cardiovascular morphology	79803	HPS6	OMIM:614075
HP:0010948	Abnormal fetal cardiovascular morphology	202018	TAPT1	OMIM:616897
HP:0010948	Abnormal fetal cardiovascular morphology	4893	NRAS	OMIM:613224
HP:0010948	Abnormal fetal cardiovascular morphology	55784	MCTP2	ORPHA:1596
HP:0010948	Abnormal fetal cardiovascular morphology	55690	PACS1	OMIM:615009
HP:0010948	Abnormal fetal cardiovascular morphology	55690	PACS1	ORPHA:329224
HP:0010948	Abnormal fetal cardiovascular morphology	4149	MAX	OMIM:620712
HP:0010948	Abnormal fetal cardiovascular morphology	4625	MYH7	OMIM:613426
HP:0010948	Abnormal fetal cardiovascular morphology	2188	FANCF	OMIM:603467
HP:0010948	Abnormal fetal cardiovascular morphology	9897	WASHC5	OMIM:220210
HP:0010948	Abnormal fetal cardiovascular morphology	9897	WASHC5	ORPHA:7
HP:0010948	Abnormal fetal cardiovascular morphology	775	CACNA1C	OMIM:601005
HP:0010948	Abnormal fetal cardiovascular morphology	84992	PIGY	ORPHA:247262
HP:0010948	Abnormal fetal cardiovascular morphology	84720	PIGO	ORPHA:247262
HP:0010948	Abnormal fetal cardiovascular morphology	93210	PGAP3	ORPHA:247262
HP:0010948	Abnormal fetal cardiovascular morphology	284098	PIGW	ORPHA:247262
HP:0010948	Abnormal fetal cardiovascular morphology	27315	PGAP2	ORPHA:247262
HP:0010948	Abnormal fetal cardiovascular morphology	55650	PIGV	ORPHA:247262
HP:0010948	Abnormal fetal cardiovascular morphology	9487	PIGL	ORPHA:247262
HP:0010948	Abnormal fetal cardiovascular morphology	3190	HNRNPK	OMIM:616580
HP:0010948	Abnormal fetal cardiovascular morphology	3339	HSPG2	OMIM:224410
HP:0010948	Abnormal fetal cardiovascular morphology	3339	HSPG2	ORPHA:1865
HP:0010948	Abnormal fetal cardiovascular morphology	84231	TRAF7	OMIM:618164
HP:0010948	Abnormal fetal cardiovascular morphology	10463	SLC30A9	OMIM:617595
HP:0010948	Abnormal fetal cardiovascular morphology	10274	STAG1	OMIM:617635
HP:0010948	Abnormal fetal cardiovascular morphology	55901	THSD1	OMIM:620244
HP:0010948	Abnormal fetal cardiovascular morphology	7473	WNT3	OMIM:273395
HP:0010948	Abnormal fetal cardiovascular morphology	3239	HOXD13	ORPHA:887
HP:0010948	Abnormal fetal cardiovascular morphology	28952	CCDC22	ORPHA:7
HP:0010948	Abnormal fetal cardiovascular morphology	57020	VPS35L	ORPHA:7
HP:0010948	Abnormal fetal cardiovascular morphology	56896	DPYSL5	ORPHA:7
HP:0010948	Abnormal fetal cardiovascular morphology	11011	TLK2	OMIM:618050
HP:0010948	Abnormal fetal cardiovascular morphology	1656	DDX6	OMIM:618653
HP:0010948	Abnormal fetal cardiovascular morphology	54903	MKS1	OMIM:249000
HP:0010948	Abnormal fetal cardiovascular morphology	23384	SPECC1L	OMIM:145420
HP:0010948	Abnormal fetal cardiovascular morphology	2783	GNB2	OMIM:619503
HP:0010948	Abnormal fetal cardiovascular morphology	5062	PAK2	OMIM:618458
HP:0010948	Abnormal fetal cardiovascular morphology	79633	FAT4	OMIM:615546
HP:0010948	Abnormal fetal cardiovascular morphology	6263	RYR3	OMIM:620310
HP:0010948	Abnormal fetal cardiovascular morphology	5879	RAC1	OMIM:617751
HP:0010948	Abnormal fetal cardiovascular morphology	286204	CRB2	OMIM:219730
HP:0010948	Abnormal fetal cardiovascular morphology	29969	MDFIC	OMIM:620014
HP:0010948	Abnormal fetal cardiovascular morphology	23395	LARS2	OMIM:617021
HP:0010948	Abnormal fetal cardiovascular morphology	6007	RHD	OMIM:619462
HP:0010948	Abnormal fetal cardiovascular morphology	79645	CLXN	OMIM:620642
HP:0004220	Short middle phalanx of the 5th finger	658	BMPR1B	OMIM:112600
HP:0004220	Short middle phalanx of the 5th finger	658	BMPR1B	OMIM:616849
HP:0004220	Short middle phalanx of the 5th finger	658	BMPR1B	ORPHA:93396
HP:0004220	Short middle phalanx of the 5th finger	650	BMP2	OMIM:112600
HP:0004220	Short middle phalanx of the 5th finger	650	BMP2	ORPHA:93396
HP:0004220	Short middle phalanx of the 5th finger	8200	GDF5	OMIM:112600
HP:0004220	Short middle phalanx of the 5th finger	8200	GDF5	OMIM:615072
HP:0004220	Short middle phalanx of the 5th finger	8200	GDF5	ORPHA:63442
HP:0004220	Short middle phalanx of the 5th finger	8200	GDF5	ORPHA:93396
HP:0004220	Short middle phalanx of the 5th finger	8200	GDF5	OMIM:113100
HP:0004220	Short middle phalanx of the 5th finger	4920	ROR2	OMIM:268310
HP:0004220	Short middle phalanx of the 5th finger	4613	MYCN	ORPHA:391641
HP:0004220	Short middle phalanx of the 5th finger	9698	PUM1	OMIM:620719
HP:0004220	Short middle phalanx of the 5th finger	10743	RAI1	OMIM:182290
HP:0004220	Short middle phalanx of the 5th finger	7021	TFAP2B	ORPHA:46627
HP:0004220	Short middle phalanx of the 5th finger	3481	IGF2	OMIM:180860
HP:0004220	Short middle phalanx of the 5th finger	51199	NIN	ORPHA:319675
HP:0004220	Short middle phalanx of the 5th finger	51199	NIN	OMIM:614851
HP:0004220	Short middle phalanx of the 5th finger	7474	WNT5A	OMIM:180700
HP:0004220	Short middle phalanx of the 5th finger	1855	DVL1	OMIM:180700
HP:0004220	Short middle phalanx of the 5th finger	9241	NOG	OMIM:186500
HP:0004220	Short middle phalanx of the 5th finger	22827	PUF60	ORPHA:508488
HP:0004220	Short middle phalanx of the 5th finger	6910	TBX5	OMIM:142900
HP:0004220	Short middle phalanx of the 5th finger	3239	HOXD13	OMIM:186000
HP:0004220	Short middle phalanx of the 5th finger	3239	HOXD13	ORPHA:93409
HP:0004220	Short middle phalanx of the 5th finger	10847	SRCAP	OMIM:136140
HP:0004220	Short middle phalanx of the 5th finger	2077	ERF	OMIM:617180
HP:0004220	Short middle phalanx of the 5th finger	860	RUNX2	OMIM:119600
HP:0004220	Short middle phalanx of the 5th finger	860	RUNX2	OMIM:156510
HP:0004220	Short middle phalanx of the 5th finger	2783	GNB2	OMIM:619503
HP:0004220	Short middle phalanx of the 5th finger	2697	GJA1	OMIM:164200
HP:0004220	Short middle phalanx of the 5th finger	5932	RBBP8	OMIM:251255
HP:0005648	Bilateral ulnar hypoplasia	4920	ROR2	OMIM:268310
HP:0003026	Short long bone	59341	TRPV4	ORPHA:93314
HP:0003026	Short long bone	9935	MAFB	ORPHA:233
HP:0003026	Short long bone	1123	CHN1	ORPHA:233
HP:0003026	Short long bone	28981	IFT81	OMIM:617895
HP:0003026	Short long bone	6154	RPL26	OMIM:614900
HP:0003026	Short long bone	55159	RFWD3	OMIM:617784
HP:0003026	Short long bone	1723	DHODH	OMIM:263750
HP:0003026	Short long bone	1723	DHODH	ORPHA:246
HP:0003026	Short long bone	55215	FANCI	OMIM:609053
HP:0003026	Short long bone	92002	CCNQ	ORPHA:140952
HP:0003026	Short long bone	2255	FGF10	ORPHA:2363
HP:0003026	Short long bone	79728	PALB2	OMIM:610832
HP:0003026	Short long bone	4038	LRP4	ORPHA:3258
HP:0003026	Short long bone	4038	LRP4	OMIM:212780
HP:0003026	Short long bone	324	APC	ORPHA:3258
HP:0003026	Short long bone	2188	FANCF	OMIM:603467
HP:0003026	Short long bone	5889	RAD51C	OMIM:613390
HP:0003026	Short long bone	7476	WNT7A	OMIM:228930
HP:0003026	Short long bone	7476	WNT7A	ORPHA:2879
HP:0003026	Short long bone	7476	WNT7A	OMIM:276820
HP:0003026	Short long bone	25836	NIPBL	OMIM:122470
HP:0003026	Short long bone	84464	SLX4	OMIM:613951
HP:0003026	Short long bone	9939	RBM8A	OMIM:274000
HP:0003026	Short long bone	6223	RPS19	OMIM:105650
HP:0003026	Short long bone	7516	XRCC2	OMIM:617247
HP:0003026	Short long bone	8241	RBM10	OMIM:311900
HP:0003026	Short long bone	51604	PIGT	OMIM:615398
HP:0003026	Short long bone	9820	CUL7	ORPHA:2616
HP:0003026	Short long bone	23363	OBSL1	ORPHA:2616
HP:0003026	Short long bone	83987	CCDC8	ORPHA:2616
HP:0003026	Short long bone	23233	EXOC6B	OMIM:618395
HP:0003026	Short long bone	182	JAG1	OMIM:118450
HP:0003026	Short long bone	57020	VPS35L	OMIM:619135
HP:0003026	Short long bone	672	BRCA1	ORPHA:84
HP:0003026	Short long bone	10459	MAD2L2	ORPHA:84
HP:0003026	Short long bone	29089	UBE2T	ORPHA:84
HP:0003026	Short long bone	675	BRCA2	ORPHA:84
HP:0003026	Short long bone	55120	FANCL	ORPHA:84
HP:0003026	Short long bone	2177	FANCD2	ORPHA:84
HP:0003026	Short long bone	2175	FANCA	ORPHA:84
HP:0003026	Short long bone	2176	FANCC	ORPHA:84
HP:0003026	Short long bone	2178	FANCE	ORPHA:84
HP:0003026	Short long bone	2189	FANCG	ORPHA:84
HP:0003026	Short long bone	5888	RAD51	ORPHA:84
HP:0003026	Short long bone	83990	BRIP1	ORPHA:84
HP:0003026	Short long bone	57697	FANCM	ORPHA:84
HP:0003026	Short long bone	2072	ERCC4	ORPHA:84
HP:0003026	Short long bone	567	B2M	OMIM:241600
HP:0003026	Short long bone	55636	CHD7	OMIM:214800
HP:0003026	Short long bone	4921	DDR2	OMIM:271665
HP:0003026	Short long bone	2261	FGFR3	OMIM:187600
HP:0003026	Short long bone	2261	FGFR3	OMIM:146000
HP:0003026	Short long bone	2261	FGFR3	ORPHA:15
HP:0003026	Short long bone	4750	NEK1	OMIM:263520
HP:0003026	Short long bone	55503	TRPV6	OMIM:618188
HP:0003026	Short long bone	89891	DYNC2I2	OMIM:615633
HP:0003026	Short long bone	26160	IFT172	OMIM:615630
HP:0003026	Short long bone	2335	FN1	ORPHA:93315
HP:0003026	Short long bone	1280	COL2A1	ORPHA:93315
HP:0003026	Short long bone	1280	COL2A1	ORPHA:93316
HP:0003026	Short long bone	1280	COL2A1	ORPHA:94068
HP:0003026	Short long bone	1280	COL2A1	OMIM:151210
HP:0003026	Short long bone	1280	COL2A1	ORPHA:93346
HP:0003026	Short long bone	1280	COL2A1	ORPHA:93296
HP:0003026	Short long bone	1280	COL2A1	ORPHA:485
HP:0003026	Short long bone	1280	COL2A1	OMIM:200610
HP:0003026	Short long bone	347734	SLC35B2	OMIM:620269
HP:0003026	Short long bone	91147	TMEM67	OMIM:602152
HP:0003026	Short long bone	1302	COL11A2	OMIM:215150
HP:0003026	Short long bone	1302	COL11A2	OMIM:614524
HP:0003026	Short long bone	6662	SOX9	ORPHA:140
HP:0003026	Short long bone	6662	SOX9	OMIM:114290
HP:0003026	Short long bone	91754	NEK9	OMIM:617022
HP:0003026	Short long bone	2317	FLNB	ORPHA:1190
HP:0003026	Short long bone	4920	ROR2	OMIM:113000
HP:0003026	Short long bone	1311	COMP	ORPHA:93308
HP:0003026	Short long bone	1311	COMP	ORPHA:750
HP:0003026	Short long bone	1311	COMP	OMIM:177170
HP:0003026	Short long bone	2720	GLB1	ORPHA:79255
HP:0003026	Short long bone	79158	GNPTAB	OMIM:252500
HP:0003026	Short long bone	79158	GNPTAB	OMIM:252600
HP:0003026	Short long bone	9382	COG1	OMIM:611209
HP:0003026	Short long bone	9382	COG1	ORPHA:263508
HP:0003026	Short long bone	7547	ZIC3	OMIM:306955
HP:0003026	Short long bone	1300	COL10A1	ORPHA:174
HP:0003026	Short long bone	84068	SLC10A7	OMIM:618363
HP:0003026	Short long bone	90993	CREB3L1	OMIM:616229
HP:0003026	Short long bone	64131	XYLT1	OMIM:615777
HP:0003026	Short long bone	64131	XYLT1	ORPHA:370930
HP:0003026	Short long bone	3339	HSPG2	ORPHA:1865
HP:0003026	Short long bone	3339	HSPG2	OMIM:224410
HP:0003026	Short long bone	64093	SMOC1	ORPHA:1106
HP:0003026	Short long bone	2131	EXT1	ORPHA:321
HP:0003026	Short long bone	2132	EXT2	ORPHA:321
HP:0003026	Short long bone	222663	SCUBE3	OMIM:619184
HP:0003026	Short long bone	633	BGN	OMIM:300106
HP:0003026	Short long bone	3977	LIFR	OMIM:601559
HP:0003026	Short long bone	1301	COL11A1	OMIM:228520
HP:0003026	Short long bone	79796	ALG9	OMIM:263210
HP:0003026	Short long bone	79796	ALG9	ORPHA:79328
HP:0003026	Short long bone	3930	LBR	OMIM:618019
HP:0003026	Short long bone	3930	LBR	OMIM:215140
HP:0003026	Short long bone	6811	STX5	OMIM:620454
HP:0003026	Short long bone	79659	DYNC2H1	OMIM:613091
HP:0003026	Short long bone	3572	IL6ST	OMIM:619751
HP:0003026	Short long bone	9851	KIAA0753	OMIM:619479
HP:0003026	Short long bone	55699	IARS2	OMIM:616007
HP:0003026	Short long bone	9719	ADAMTSL2	OMIM:231050
HP:0003026	Short long bone	65992	DDRGK1	ORPHA:93352
HP:0003026	Short long bone	4796	TONSL	ORPHA:93357
HP:0003026	Short long bone	79809	TTC21B	OMIM:613819
HP:0003026	Short long bone	4148	MATN3	OMIM:608728
HP:0003026	Short long bone	3636	INPPL1	OMIM:258480
HP:0003026	Short long bone	1836	SLC26A2	OMIM:222600
HP:0003026	Short long bone	285590	SH3PXD2B	OMIM:249420
HP:0003026	Short long bone	4089	SMAD4	OMIM:139210
HP:0003026	Short long bone	9321	TRIP11	OMIM:184260
HP:0003026	Short long bone	2690	GHR	OMIM:262500
HP:0003026	Short long bone	5130	PCYT1A	ORPHA:85167
HP:0003026	Short long bone	5130	PCYT1A	OMIM:608940
HP:0003026	Short long bone	54928	BPNT2	OMIM:614078
HP:0003026	Short long bone	23169	SLC35D1	OMIM:269250
HP:0003026	Short long bone	126792	B3GALT6	OMIM:271640
HP:0003026	Short long bone	5331	PLCB3	OMIM:618961
HP:0003026	Short long bone	5745	PTH1R	OMIM:156400
HP:0003026	Short long bone	132884	EVC2	OMIM:225500
HP:0003026	Short long bone	2121	EVC	OMIM:225500
HP:0003026	Short long bone	153241	CEP120	OMIM:616300
HP:0003026	Short long bone	89970	RSPRY1	ORPHA:457395
HP:0003026	Short long bone	6137	RPL13	OMIM:618728
HP:0003026	Short long bone	55191	NADSYN1	OMIM:618845
HP:0003026	Short long bone	79087	ALG12	ORPHA:79324
HP:0003026	Short long bone	7474	WNT5A	OMIM:180700
HP:0003026	Short long bone	1855	DVL1	OMIM:180700
HP:0003026	Short long bone	57539	WDR35	OMIM:614091
HP:0003026	Short long bone	29071	C1GALT1C1	OMIM:301110
HP:0003026	Short long bone	51626	DYNC2LI1	OMIM:617088
HP:0003026	Short long bone	51025	PAM16	OMIM:613320
HP:0003026	Short long bone	27152	INTU	OMIM:617925
HP:0003026	Short long bone	55112	DYNC2I1	OMIM:615503
HP:0003026	Short long bone	2200	FBN1	OMIM:102370
HP:0003026	Short long bone	6023	RMRP	OMIM:250460
HP:0003026	Short long bone	54808	DYM	ORPHA:239
HP:0003026	Short long bone	2879	GPX4	OMIM:250220
HP:0003026	Short long bone	139285	AMER1	OMIM:300373
HP:0003026	Short long bone	2535	FZD2	OMIM:164745
HP:0003026	Short long bone	8200	GDF5	OMIM:200700
HP:0003026	Short long bone	8200	GDF5	OMIM:615072
HP:0003026	Short long bone	8200	GDF5	OMIM:201250
HP:0003026	Short long bone	8200	GDF5	ORPHA:2098
HP:0003026	Short long bone	8200	GDF5	OMIM:228900
HP:0003026	Short long bone	3899	AFF3	OMIM:619297
HP:0003026	Short long bone	10082	GPC6	OMIM:258315
HP:0003026	Short long bone	727857	BHLHA9	ORPHA:3329
HP:0003026	Short long bone	658	BMPR1B	ORPHA:2098
HP:0003026	Short long bone	6473	SHOX	OMIM:127300
HP:0003026	Short long bone	6473	SHOX	OMIM:249700
HP:0003026	Short long bone	55764	IFT122	OMIM:218330
HP:0003026	Short long bone	10262	SF3B4	ORPHA:1788
HP:0003026	Short long bone	27125	AFF4	ORPHA:444077
HP:0003026	Short long bone	9775	EIF4A3	OMIM:268305
HP:0003026	Short long bone	4233	MET	OMIM:607278
HP:0003026	Short long bone	9949	AMMECR1	OMIM:300990
HP:0003026	Short long bone	64841	GNPNAT1	OMIM:619598
HP:0003026	Short long bone	10588	MTHFS	OMIM:618367
HP:0003026	Short long bone	65250	CPLANE1	OMIM:277170
HP:0003026	Short long bone	23483	TGDS	OMIM:616145
HP:0003026	Short long bone	83871	RAB34	OMIM:620718
HP:0003026	Short long bone	57167	SALL4	OMIM:147750
HP:0003026	Short long bone	100151683	RNU4ATAC	OMIM:210710
HP:0003026	Short long bone	815	CAMK2A	OMIM:617798
HP:0003026	Short long bone	1317	SLC31A1	OMIM:620306
HP:0003026	Short long bone	9496	TBX4	OMIM:147891
HP:0003026	Short long bone	11128	POLR3A	OMIM:264090
HP:0003026	Short long bone	11128	POLR3A	ORPHA:3455
HP:0003026	Short long bone	6913	TBX15	ORPHA:93333
HP:0003026	Short long bone	22827	PUF60	ORPHA:508488
HP:0003026	Short long bone	8540	AGPS	OMIM:600121
HP:0003026	Short long bone	3549	IHH	OMIM:607778
HP:0003026	Short long bone	8802	SUCLG1	ORPHA:17
HP:0003026	Short long bone	202018	TAPT1	OMIM:616897
HP:0003026	Short long bone	8792	TNFRSF11A	OMIM:602080
HP:0003026	Short long bone	871	SERPINH1	OMIM:613848
HP:0003026	Short long bone	9898	UBAP2L	OMIM:620494
HP:0003026	Short long bone	3094	HINT1	ORPHA:324442
HP:0003026	Short long bone	9578	CDC42BPB	OMIM:619841
HP:0003026	Short long bone	341208	HEPHL1	OMIM:261990
HP:0003026	Short long bone	54585	LZTFL1	OMIM:615994
HP:0003026	Short long bone	55628	ZNF407	OMIM:619557
HP:0003026	Short long bone	2146	EZH2	OMIM:277590
HP:0003026	Short long bone	3708	ITPR1	OMIM:206700
HP:0003026	Short long bone	23288	IQCE	OMIM:617642
HP:0003026	Short long bone	91179	SCARF2	OMIM:600920
HP:0003026	Short long bone	64327	LMBR1	OMIM:200500
HP:0003026	Short long bone	64327	LMBR1	ORPHA:93405
HP:0003026	Short long bone	7355	SLC35A2	ORPHA:356961
HP:0003026	Short long bone	6469	SHH	ORPHA:93405
HP:0003026	Short long bone	388015	RTL1	ORPHA:96334
HP:0003026	Short long bone	8788	DLK1	ORPHA:96334
HP:0003026	Short long bone	55384	MEG3	ORPHA:96334
HP:0003026	Short long bone	3911	LAMA5	OMIM:620076
HP:0003026	Short long bone	57688	ZSWIM6	OMIM:603671
HP:0003026	Short long bone	29980	DONSON	OMIM:251230
HP:0003026	Short long bone	26123	TCTN3	OMIM:258860
HP:0003026	Short long bone	2737	GLI3	ORPHA:93322
HP:0003026	Short long bone	9361	LONP1	OMIM:600373
HP:0003026	Short long bone	6628	SNRPB	OMIM:117650
HP:0003026	Short long bone	538	ATP7A	OMIM:304150
HP:0003026	Short long bone	145258	GSC	OMIM:602471
HP:0003026	Short long bone	9241	NOG	OMIM:186500
HP:0003026	Short long bone	157570	ESCO2	OMIM:268300
HP:0003026	Short long bone	4982	TNFRSF11B	OMIM:239000
HP:0003026	Short long bone	6910	TBX5	OMIM:142900
HP:0003026	Short long bone	114803	MYSM1	ORPHA:508542
HP:0003026	Short long bone	9401	RECQL4	OMIM:218600
HP:0003026	Short long bone	6926	TBX3	OMIM:181450
HP:0003026	Short long bone	8443	GNPAT	OMIM:222765
HP:0003026	Short long bone	2187	FANCB	OMIM:314390
HP:0003026	Short long bone	2316	FLNA	OMIM:309350
HP:0003026	Short long bone	5830	PEX5	OMIM:616716
HP:0003026	Short long bone	219844	HYLS1	OMIM:236680
HP:0003026	Short long bone	545	ATR	OMIM:210600
HP:0003026	Short long bone	23476	BRD4	ORPHA:199
HP:0003026	Short long bone	23476	BRD4	OMIM:620568
HP:0003026	Short long bone	9126	SMC3	ORPHA:199
HP:0003026	Short long bone	8243	SMC1A	ORPHA:199
HP:0003026	Short long bone	6878	TAF6	ORPHA:199
HP:0003026	Short long bone	55869	HDAC8	ORPHA:199
HP:0003026	Short long bone	5885	RAD21	ORPHA:199
HP:0003026	Short long bone	90	ACVR1	OMIM:135100
HP:0003026	Short long bone	6091	ROBO1	OMIM:620305
HP:0003026	Short long bone	3209	HOXA13	OMIM:140000
HP:0003026	Short long bone	3209	HOXA13	ORPHA:2438
HP:0003026	Short long bone	5116	PCNT	OMIM:210720
HP:0003026	Short long bone	26040	SETBP1	OMIM:269150
HP:0003026	Short long bone	26040	SETBP1	ORPHA:798
HP:0003026	Short long bone	650	BMP2	ORPHA:93396
HP:0003026	Short long bone	374969	SVBP	OMIM:618569
HP:0003026	Short long bone	55612	FERMT1	ORPHA:2908
HP:0003026	Short long bone	94005	PIGS	OMIM:618143
HP:0003026	Short long bone	79633	FAT4	OMIM:615546
HP:0003026	Short long bone	51715	RAB23	ORPHA:65759
HP:0003026	Short long bone	1954	MEGF8	ORPHA:65759
HP:0003026	Short long bone	8642	DCHS1	OMIM:601390
HP:0003026	Short long bone	26224	FBXL3	OMIM:606220
HP:0003026	Short long bone	5727	PTCH1	OMIM:109400
HP:0003026	Short long bone	860	RUNX2	OMIM:156510
HP:0003026	Short long bone	8823	FGF16	OMIM:309630
HP:0003026	Short long bone	2137	EXTL3	ORPHA:508533
HP:0003026	Short long bone	5573	PRKAR1A	ORPHA:950
HP:0003026	Short long bone	5573	PRKAR1A	OMIM:101800
HP:0003026	Short long bone	5144	PDE4D	ORPHA:950
HP:0003026	Short long bone	5144	PDE4D	ORPHA:439822
HP:0003026	Short long bone	5144	PDE4D	OMIM:614613
HP:0003026	Short long bone	64374	SIL1	OMIM:248800
HP:0003026	Short long bone	1763	DNA2	OMIM:620819
HP:0003026	Short long bone	6885	MAP3K7	OMIM:617137
HP:0003026	Short long bone	6885	MAP3K7	ORPHA:1826
HP:0003026	Short long bone	9759	HDAC4	ORPHA:1001
HP:0003026	Short long bone	9759	HDAC4	OMIM:600430
HP:0003026	Short long bone	55733	HHAT	OMIM:600092
HP:0003026	Short long bone	55733	HHAT	ORPHA:1422
HP:0003026	Short long bone	90459	ERI1	OMIM:620662
HP:0003026	Short long bone	5447	POR	ORPHA:95699
HP:0003026	Short long bone	149775	GNAS-AS1	OMIM:603233
HP:0003026	Short long bone	2778	GNAS	OMIM:603233
HP:0003026	Short long bone	2778	GNAS	OMIM:612463
HP:0003026	Short long bone	2778	GNAS	OMIM:612462
HP:0003026	Short long bone	2778	GNAS	ORPHA:79443
HP:0003026	Short long bone	2778	GNAS	ORPHA:79444
HP:0003026	Short long bone	2778	GNAS	OMIM:103580
HP:0003026	Short long bone	8675	STX16	OMIM:603233
HP:0003026	Short long bone	117581	TWIST2	OMIM:200110
HP:0003026	Short long bone	10686	CLDN16	OMIM:248250
HP:0003026	Short long bone	10847	SRCAP	ORPHA:2044
HP:0003026	Short long bone	25782	RAB3GAP2	OMIM:212720
HP:0003026	Short long bone	5744	PTHLH	ORPHA:93387
HP:0003026	Short long bone	5744	PTHLH	OMIM:613382
HP:0003026	Short long bone	3239	HOXD13	ORPHA:93387
HP:0003026	Short long bone	3239	HOXD13	OMIM:113300
HP:0003026	Short long bone	10225	CD96	OMIM:211750
HP:0003026	Short long bone	64175	P3H1	OMIM:610915
HP:0003026	Short long bone	6197	RPS6KA3	OMIM:303600
HP:0003026	Short long bone	6197	RPS6KA3	ORPHA:192
HP:0003026	Short long bone	9469	CHST3	ORPHA:263463
HP:0003026	Short long bone	9469	CHST3	OMIM:143095
HP:0003026	Short long bone	54496	PRMT7	OMIM:617157
HP:0003026	Short long bone	4054	LTBP3	ORPHA:969
HP:0003026	Short long bone	3759	KCNJ2	OMIM:170390
HP:0003026	Short long bone	157680	VPS13B	OMIM:216550
HP:0003026	Short long bone	5139	PDE3A	OMIM:112410
HP:0003026	Short long bone	5139	PDE3A	ORPHA:1276
HP:0003026	Short long bone	64840	PORCN	OMIM:305600
HP:0003026	Short long bone	4882	NPR2	OMIM:602875
HP:0003026	Short long bone	145173	B3GLCT	OMIM:261540
HP:0003026	Short long bone	5593	PRKG2	OMIM:619636
HP:0003026	Short long bone	10283	CWC27	OMIM:250410
HP:0003026	Short long bone	10283	CWC27	ORPHA:166035
HP:0003026	Short long bone	4810	NHS	ORPHA:627
HP:0003026	Short long bone	25839	COG4	OMIM:618150
HP:0003026	Short long bone	51098	IFT52	OMIM:617102
HP:0003026	Short long bone	1299	COL9A3	OMIM:600969
HP:0003026	Short long bone	55252	ASXL2	OMIM:617190
HP:0003026	Short long bone	5264	PHYH	ORPHA:773
HP:0003026	Short long bone	5191	PEX7	ORPHA:773
HP:0003026	Short long bone	2260	FGFR1	OMIM:166250
HP:0003026	Short long bone	1788	DNMT3A	OMIM:618724
HP:0003026	Short long bone	5498	PPOX	OMIM:620483
HP:0003026	Short long bone	22856	CHSY1	OMIM:605282
HP:0003026	Short long bone	6595	SMARCA2	OMIM:601358
HP:0003026	Short long bone	54101	RIPK4	OMIM:263650
HP:0003026	Short long bone	83452	RAB33B	OMIM:615222
HP:0003026	Short long bone	91252	SLC39A13	OMIM:612350
HP:0003026	Short long bone	57560	IFT80	OMIM:611263
HP:0003026	Short long bone	1297	COL9A1	OMIM:614134
HP:0003026	Short long bone	25871	NEPRO	OMIM:618853
HP:0003026	Short long bone	7227	TRPS1	OMIM:190350
HP:0003026	Short long bone	7227	TRPS1	OMIM:190351
HP:0003026	Short long bone	7227	TRPS1	ORPHA:77258
HP:0003026	Short long bone	90417	KNSTRN	OMIM:613328
HP:0003026	Short long bone	5293	PIK3CD	OMIM:613328
HP:0003026	Short long bone	25886	POC1A	OMIM:614813
HP:0003026	Short long bone	64682	ANAPC1	ORPHA:221008
HP:0003026	Short long bone	2033	EP300	OMIM:613684
HP:0003026	Short long bone	253738	EBF3	ORPHA:96148
HP:0003026	Short long bone	6925	TCF4	ORPHA:2896
HP:0003026	Short long bone	6299	SALL1	OMIM:107480
HP:0003026	Short long bone	124583	CANT1	OMIM:251450
HP:0003026	Short long bone	2263	FGFR2	ORPHA:1540
HP:0003026	Short long bone	9896	FIG4	OMIM:216340
HP:0003026	Short long bone	9742	IFT140	OMIM:266920
HP:0003026	Short long bone	6736	SRY	ORPHA:1772
HP:0003026	Short long bone	3516	RBPJ	OMIM:614814
HP:0001181	Adducted thumb	1802	DPH2	OMIM:620062
HP:0001181	Adducted thumb	91949	COG7	OMIM:608779
HP:0001181	Adducted thumb	91949	COG7	ORPHA:79333
HP:0001181	Adducted thumb	27238	GPKOW	ORPHA:2570
HP:0001181	Adducted thumb	23141	ANKLE2	OMIM:616681
HP:0001181	Adducted thumb	29895	MYL11	OMIM:619110
HP:0001181	Adducted thumb	5393	EXOSC9	OMIM:618065
HP:0001181	Adducted thumb	1861	TOR1A	OMIM:618947
HP:0001181	Adducted thumb	55627	SMPD4	OMIM:618622
HP:0001181	Adducted thumb	6804	STX1A	ORPHA:904
HP:0001181	Adducted thumb	7461	CLIP2	ORPHA:904
HP:0001181	Adducted thumb	84277	DNAJC30	ORPHA:904
HP:0001181	Adducted thumb	8468	FKBP6	ORPHA:904
HP:0001181	Adducted thumb	5982	RFC2	ORPHA:904
HP:0001181	Adducted thumb	2969	GTF2I	ORPHA:904
HP:0001181	Adducted thumb	3984	LIMK1	ORPHA:904
HP:0001181	Adducted thumb	9569	GTF2IRD1	ORPHA:904
HP:0001181	Adducted thumb	155382	VPS37D	ORPHA:904
HP:0001181	Adducted thumb	155368	METTL27	ORPHA:904
HP:0001181	Adducted thumb	114049	BUD23	ORPHA:904
HP:0001181	Adducted thumb	7458	EIF4H	ORPHA:904
HP:0001181	Adducted thumb	84163	GTF2IRD2	ORPHA:904
HP:0001181	Adducted thumb	26608	TBL2	ORPHA:904
HP:0001181	Adducted thumb	653361	NCF1	ORPHA:904
HP:0001181	Adducted thumb	135886	TMEM270	ORPHA:904
HP:0001181	Adducted thumb	9031	BAZ1B	ORPHA:904
HP:0001181	Adducted thumb	2006	ELN	ORPHA:904
HP:0001181	Adducted thumb	2006	ELN	ORPHA:90348
HP:0001181	Adducted thumb	5832	ALDH18A1	OMIM:616603
HP:0001181	Adducted thumb	5832	ALDH18A1	OMIM:219150
HP:0001181	Adducted thumb	5832	ALDH18A1	ORPHA:90348
HP:0001181	Adducted thumb	347734	SLC35B2	OMIM:620269
HP:0001181	Adducted thumb	23345	SYNE1	ORPHA:319332
HP:0001181	Adducted thumb	23345	SYNE1	OMIM:618484
HP:0001181	Adducted thumb	2200	FBN1	ORPHA:284979
HP:0001181	Adducted thumb	84992	PIGY	OMIM:616809
HP:0001181	Adducted thumb	1303	COL12A1	ORPHA:75840
HP:0001181	Adducted thumb	1303	COL12A1	ORPHA:536516
HP:0001181	Adducted thumb	1291	COL6A1	ORPHA:75840
HP:0001181	Adducted thumb	1292	COL6A2	ORPHA:75840
HP:0001181	Adducted thumb	1292	COL6A2	OMIM:620727
HP:0001181	Adducted thumb	1293	COL6A3	ORPHA:75840
HP:0001181	Adducted thumb	9839	ZEB2	ORPHA:261537
HP:0001181	Adducted thumb	9839	ZEB2	ORPHA:261552
HP:0001181	Adducted thumb	113189	CHST14	OMIM:601776
HP:0001181	Adducted thumb	10479	SLC9A6	OMIM:300243
HP:0001181	Adducted thumb	10479	SLC9A6	ORPHA:85278
HP:0001181	Adducted thumb	91754	NEK9	OMIM:617022
HP:0001181	Adducted thumb	5649	RELN	ORPHA:89844
HP:0001181	Adducted thumb	10300	KATNB1	ORPHA:89844
HP:0001181	Adducted thumb	54820	NDE1	ORPHA:89844
HP:0001181	Adducted thumb	6472	SHMT2	OMIM:619121
HP:0001181	Adducted thumb	58	ACTA1	ORPHA:171430
HP:0001181	Adducted thumb	4703	NEB	ORPHA:171430
HP:0001181	Adducted thumb	4703	NEB	OMIM:619334
HP:0001181	Adducted thumb	131377	KLHL40	ORPHA:171430
HP:0001181	Adducted thumb	10324	KLHL41	ORPHA:171430
HP:0001181	Adducted thumb	56203	LMOD3	ORPHA:171430
HP:0001181	Adducted thumb	26227	PHGDH	OMIM:601815
HP:0001181	Adducted thumb	26227	PHGDH	ORPHA:79351
HP:0001181	Adducted thumb	84162	BLTP1	OMIM:617822
HP:0001181	Adducted thumb	202018	TAPT1	OMIM:616897
HP:0001181	Adducted thumb	2782	GNB1	OMIM:616973
HP:0001181	Adducted thumb	2201	FBN2	OMIM:121050
HP:0001181	Adducted thumb	7140	TNNT3	OMIM:618435
HP:0001181	Adducted thumb	7140	TNNT3	ORPHA:1147
HP:0001181	Adducted thumb	7140	TNNT3	ORPHA:1146
HP:0001181	Adducted thumb	91869	RFT1	OMIM:612015
HP:0001181	Adducted thumb	2033	EP300	ORPHA:353284
HP:0001181	Adducted thumb	4621	MYH3	OMIM:618436
HP:0001181	Adducted thumb	4621	MYH3	OMIM:193700
HP:0001181	Adducted thumb	4621	MYH3	ORPHA:1147
HP:0001181	Adducted thumb	4621	MYH3	ORPHA:1146
HP:0001181	Adducted thumb	3897	L1CAM	ORPHA:306617
HP:0001181	Adducted thumb	3897	L1CAM	OMIM:303350
HP:0001181	Adducted thumb	3897	L1CAM	OMIM:307000
HP:0001181	Adducted thumb	3897	L1CAM	ORPHA:2182
HP:0001181	Adducted thumb	388015	RTL1	ORPHA:96334
HP:0001181	Adducted thumb	8788	DLK1	ORPHA:96334
HP:0001181	Adducted thumb	55384	MEG3	ORPHA:96334
HP:0001181	Adducted thumb	2067	ERCC1	OMIM:610758
HP:0001181	Adducted thumb	9179	AP4M1	OMIM:612936
HP:0001181	Adducted thumb	7169	TPM2	OMIM:108120
HP:0001181	Adducted thumb	7169	TPM2	ORPHA:1147
HP:0001181	Adducted thumb	7169	TPM2	ORPHA:1146
HP:0001181	Adducted thumb	126792	B3GALT6	ORPHA:536467
HP:0001181	Adducted thumb	50515	CHST11	OMIM:618167
HP:0001181	Adducted thumb	79868	ALG13	ORPHA:324422
HP:0001181	Adducted thumb	259232	NALCN	OMIM:616266
HP:0001181	Adducted thumb	259232	NALCN	ORPHA:1147
HP:0001181	Adducted thumb	259232	NALCN	ORPHA:1146
HP:0001181	Adducted thumb	259232	NALCN	ORPHA:562528
HP:0001181	Adducted thumb	23483	TGDS	OMIM:616145
HP:0001181	Adducted thumb	729920	CRPPA	OMIM:614643
HP:0001181	Adducted thumb	7136	TNNI2	ORPHA:1147
HP:0001181	Adducted thumb	7136	TNNI2	ORPHA:1146
HP:0001181	Adducted thumb	10273	STUB1	ORPHA:412057
HP:0001181	Adducted thumb	1387	CREBBP	ORPHA:353277
HP:0001181	Adducted thumb	4604	MYBPC1	ORPHA:1146
HP:0001181	Adducted thumb	10516	FBLN5	ORPHA:90348
HP:0001181	Adducted thumb	81857	MED25	ORPHA:464738
HP:0001181	Adducted thumb	57211	ADGRG6	OMIM:616503
HP:0001181	Adducted thumb	9939	RBM8A	ORPHA:3320
HP:0001181	Adducted thumb	9939	RBM8A	OMIM:274000
HP:0001181	Adducted thumb	29940	DSE	OMIM:615539
HP:0001181	Adducted thumb	3756	KCNH1	OMIM:611816
HP:0001181	Adducted thumb	23299	BICD2	OMIM:618291
HP:0001181	Adducted thumb	10195	ALG3	OMIM:601110
HP:0001181	Adducted thumb	7703	PCGF2	OMIM:618371
HP:0001181	Adducted thumb	10943	MSL3	OMIM:301032
HP:0001181	Adducted thumb	3977	LIFR	OMIM:601559
HP:0001181	Adducted thumb	9427	ECEL1	OMIM:615065
HP:0001181	Adducted thumb	6999	TDO2	OMIM:600627
HP:0001181	Adducted thumb	84896	ATAD1	OMIM:618011
HP:0001181	Adducted thumb	2036	EPB41L1	OMIM:614257
HP:0001181	Adducted thumb	27145	FILIP1	OMIM:620775
HP:0001181	Adducted thumb	79693	YRDC	ORPHA:2065
HP:0001181	Adducted thumb	51002	TPRKB	ORPHA:2065
HP:0001181	Adducted thumb	84942	WDR73	ORPHA:2065
HP:0001181	Adducted thumb	55644	OSGEP	ORPHA:2065
HP:0001181	Adducted thumb	57122	NUP107	ORPHA:2065
HP:0001181	Adducted thumb	10785	WDR4	ORPHA:2065
HP:0001181	Adducted thumb	55746	NUP133	ORPHA:2065
HP:0001181	Adducted thumb	84520	GON7	ORPHA:2065
HP:0001181	Adducted thumb	112858	TP53RK	ORPHA:2065
HP:0001181	Adducted thumb	8270	LAGE3	ORPHA:2065
HP:0001181	Adducted thumb	9244	CRLF1	OMIM:272430
HP:0001181	Adducted thumb	26834	RNU4-2	OMIM:620851
HP:0005645	Intervertebral disk calcification	3081	HGD	ORPHA:56
HP:0005645	Intervertebral disk calcification	4907	NT5E	OMIM:211800
HP:0005645	Intervertebral disk calcification	56172	ANKH	OMIM:123000
HP:0005645	Intervertebral disk calcification	1297	COL9A1	OMIM:614135
HP:0005619	Thoracolumbar kyphosis	8838	CCN6	ORPHA:1159
HP:0005619	Thoracolumbar kyphosis	1009	CDH11	ORPHA:1299
HP:0005619	Thoracolumbar kyphosis	25871	NEPRO	OMIM:618853
HP:0005619	Thoracolumbar kyphosis	10940	POP1	OMIM:617396
HP:0005619	Thoracolumbar kyphosis	4247	MGAT2	OMIM:212066
HP:0005619	Thoracolumbar kyphosis	8022	LHX3	ORPHA:231720
HP:0005619	Thoracolumbar kyphosis	79158	GNPTAB	OMIM:252500
HP:0005619	Thoracolumbar kyphosis	139285	AMER1	OMIM:300373
HP:0005619	Thoracolumbar kyphosis	2137	EXTL3	ORPHA:508533
HP:0005619	Thoracolumbar kyphosis	2137	EXTL3	OMIM:617425
HP:0005619	Thoracolumbar kyphosis	2317	FLNB	ORPHA:56305
HP:0005619	Thoracolumbar kyphosis	2261	FGFR3	ORPHA:15
HP:0005619	Thoracolumbar kyphosis	3835	KIF22	ORPHA:93360
HP:0005619	Thoracolumbar kyphosis	4882	NPR2	OMIM:602875
HP:0005619	Thoracolumbar kyphosis	116931	MED12L	OMIM:618872
HP:0005619	Thoracolumbar kyphosis	1280	COL2A1	OMIM:151210
HP:0005619	Thoracolumbar kyphosis	2629	GBA1	ORPHA:2072
HP:0005619	Thoracolumbar kyphosis	4125	MAN2B1	OMIM:248500
HP:0005619	Thoracolumbar kyphosis	2990	GUSB	OMIM:253220
HP:0005619	Thoracolumbar kyphosis	23219	FBXO28	OMIM:619777
HP:0005619	Thoracolumbar kyphosis	3930	LBR	OMIM:618019
HP:0005619	Thoracolumbar kyphosis	2720	GLB1	OMIM:230600
HP:0005619	Thoracolumbar kyphosis	1836	SLC26A2	ORPHA:628
HP:0200053	Hemihypotrophy of lower limb	1947	EFNB1	OMIM:304110
HP:0200053	Hemihypotrophy of lower limb	374879	ZNF699	OMIM:619488
HP:0200053	Hemihypotrophy of lower limb	5718	PSMD12	ORPHA:529962
HP:0200053	Hemihypotrophy of lower limb	2186	BPTF	ORPHA:529962
HP:0005617	Bilateral camptodactyly	55628	ZNF407	OMIM:619557
HP:0005617	Bilateral camptodactyly	23219	FBXO28	OMIM:619777
HP:0005617	Bilateral camptodactyly	84265	POLR3GL	OMIM:619234
HP:0005617	Bilateral camptodactyly	64324	NSD1	ORPHA:821
HP:0005617	Bilateral camptodactyly	10297	APC2	ORPHA:821
HP:0005617	Bilateral camptodactyly	80204	FBXO11	OMIM:618089
HP:0005616	Accelerated skeletal maturation	7227	TRPS1	OMIM:190350
HP:0005616	Accelerated skeletal maturation	7227	TRPS1	OMIM:190351
HP:0005616	Accelerated skeletal maturation	5573	PRKAR1A	ORPHA:950
HP:0005616	Accelerated skeletal maturation	5573	PRKAR1A	OMIM:101800
HP:0005616	Accelerated skeletal maturation	5144	PDE4D	ORPHA:950
HP:0005616	Accelerated skeletal maturation	5144	PDE4D	ORPHA:439822
HP:0005616	Accelerated skeletal maturation	7840	ALMS1	ORPHA:64
HP:0005616	Accelerated skeletal maturation	7840	ALMS1	OMIM:203800
HP:0005616	Accelerated skeletal maturation	11285	B4GALT7	OMIM:130070
HP:0005616	Accelerated skeletal maturation	4158	MC2R	OMIM:202200
HP:0005616	Accelerated skeletal maturation	23512	SUZ12	OMIM:618786
HP:0005616	Accelerated skeletal maturation	23512	SUZ12	ORPHA:3447
HP:0005616	Accelerated skeletal maturation	26580	BSCL2	OMIM:269700
HP:0005616	Accelerated skeletal maturation	26580	BSCL2	ORPHA:528
HP:0005616	Accelerated skeletal maturation	2879	GPX4	ORPHA:93317
HP:0005616	Accelerated skeletal maturation	2737	GLI3	OMIM:175700
HP:0005616	Accelerated skeletal maturation	2737	GLI3	ORPHA:380
HP:0005616	Accelerated skeletal maturation	4160	MC4R	ORPHA:71529
HP:0005616	Accelerated skeletal maturation	3290	HSD11B1	OMIM:614662
HP:0005616	Accelerated skeletal maturation	84282	RNF135	ORPHA:137634
HP:0005616	Accelerated skeletal maturation	3643	INSR	ORPHA:2297
HP:0005616	Accelerated skeletal maturation	5593	PRKG2	OMIM:619636
HP:0005616	Accelerated skeletal maturation	3008	H1-4	OMIM:617537
HP:0005616	Accelerated skeletal maturation	1650	DDOST	OMIM:614507
HP:0005616	Accelerated skeletal maturation	1650	DDOST	ORPHA:300536
HP:0005616	Accelerated skeletal maturation	3636	INPPL1	ORPHA:3144
HP:0005616	Accelerated skeletal maturation	23169	SLC35D1	ORPHA:3144
HP:0005616	Accelerated skeletal maturation	4784	NFIX	ORPHA:420179
HP:0005616	Accelerated skeletal maturation	4784	NFIX	OMIM:614753
HP:0005616	Accelerated skeletal maturation	4784	NFIX	OMIM:602535
HP:0005616	Accelerated skeletal maturation	4784	NFIX	ORPHA:561
HP:0005616	Accelerated skeletal maturation	7253	TSHR	ORPHA:424
HP:0005616	Accelerated skeletal maturation	7253	TSHR	OMIM:609152
HP:0005616	Accelerated skeletal maturation	2202	EFEMP1	OMIM:620780
HP:0005616	Accelerated skeletal maturation	5745	PTH1R	OMIM:215045
HP:0005616	Accelerated skeletal maturation	5745	PTH1R	ORPHA:50945
HP:0005616	Accelerated skeletal maturation	64324	NSD1	ORPHA:821
HP:0005616	Accelerated skeletal maturation	64324	NSD1	OMIM:117550
HP:0005616	Accelerated skeletal maturation	64324	NSD1	ORPHA:3447
HP:0005616	Accelerated skeletal maturation	10297	APC2	ORPHA:821
HP:0005616	Accelerated skeletal maturation	9690	UBE3C	OMIM:620270
HP:0005616	Accelerated skeletal maturation	6595	SMARCA2	ORPHA:3051
HP:0005616	Accelerated skeletal maturation	1584	CYP11B1	OMIM:202010
HP:0005616	Accelerated skeletal maturation	1584	CYP11B1	ORPHA:90795
HP:0005616	Accelerated skeletal maturation	55790	CSGALNACT1	OMIM:618870
HP:0005616	Accelerated skeletal maturation	55790	CSGALNACT1	ORPHA:1425
HP:0005616	Accelerated skeletal maturation	6942	TCF20	OMIM:618430
HP:0005616	Accelerated skeletal maturation	1836	SLC26A2	ORPHA:93307
HP:0005616	Accelerated skeletal maturation	200424	TET3	OMIM:618798
HP:0005616	Accelerated skeletal maturation	3952	LEP	ORPHA:66628
HP:0005616	Accelerated skeletal maturation	4221	MEN1	ORPHA:99725
HP:0005616	Accelerated skeletal maturation	9049	AIP	ORPHA:99725
HP:0005616	Accelerated skeletal maturation	3764	KCNJ8	ORPHA:1517
HP:0005616	Accelerated skeletal maturation	10060	ABCC9	ORPHA:1517
HP:0005616	Accelerated skeletal maturation	4297	KMT2A	OMIM:605130
HP:0005616	Accelerated skeletal maturation	4297	KMT2A	ORPHA:319182
HP:0005616	Accelerated skeletal maturation	55252	ASXL2	OMIM:617190
HP:0005616	Accelerated skeletal maturation	2239	GPC4	ORPHA:373
HP:0005616	Accelerated skeletal maturation	2239	GPC4	OMIM:312870
HP:0005616	Accelerated skeletal maturation	2719	GPC3	ORPHA:373
HP:0005616	Accelerated skeletal maturation	2719	GPC3	OMIM:312870
HP:0005616	Accelerated skeletal maturation	6023	RMRP	ORPHA:175
HP:0005616	Accelerated skeletal maturation	1588	CYP19A1	OMIM:139300
HP:0005616	Accelerated skeletal maturation	1028	CDKN1C	OMIM:130650
HP:0005616	Accelerated skeletal maturation	3481	IGF2	OMIM:130650
HP:0005616	Accelerated skeletal maturation	3784	KCNQ1	OMIM:130650
HP:0005616	Accelerated skeletal maturation	10984	KCNQ1OT1	OMIM:130650
HP:0005616	Accelerated skeletal maturation	84068	SLC10A7	OMIM:618363
HP:0005616	Accelerated skeletal maturation	2990	GUSB	OMIM:253220
HP:0005616	Accelerated skeletal maturation	2146	EZH2	OMIM:277590
HP:0005616	Accelerated skeletal maturation	2146	EZH2	ORPHA:3447
HP:0005616	Accelerated skeletal maturation	3973	LHCGR	ORPHA:3000
HP:0005616	Accelerated skeletal maturation	5468	PPARG	ORPHA:528
HP:0005616	Accelerated skeletal maturation	10555	AGPAT2	ORPHA:528
HP:0005616	Accelerated skeletal maturation	10555	AGPAT2	OMIM:608594
HP:0005616	Accelerated skeletal maturation	284119	CAVIN1	ORPHA:528
HP:0005616	Accelerated skeletal maturation	284119	CAVIN1	OMIM:613327
HP:0005616	Accelerated skeletal maturation	2353	FOS	ORPHA:528
HP:0005616	Accelerated skeletal maturation	857	CAV1	ORPHA:528
HP:0005616	Accelerated skeletal maturation	64131	XYLT1	ORPHA:370930
HP:0005616	Accelerated skeletal maturation	64131	XYLT1	ORPHA:1425
HP:0005616	Accelerated skeletal maturation	124583	CANT1	ORPHA:1425
HP:0005616	Accelerated skeletal maturation	176	ACAN	OMIM:165800
HP:0005616	Accelerated skeletal maturation	5727	PTCH1	ORPHA:77301
HP:0005616	Accelerated skeletal maturation	2778	GNAS	ORPHA:562
HP:0005616	Accelerated skeletal maturation	9469	CHST3	OMIM:245600
HP:0005616	Accelerated skeletal maturation	26229	B3GAT3	OMIM:245600
HP:0005616	Accelerated skeletal maturation	8726	EED	OMIM:617561
HP:0005616	Accelerated skeletal maturation	372	ARCN1	OMIM:617164
HP:0005616	Accelerated skeletal maturation	1656	DDX6	OMIM:618653
HP:0005616	Accelerated skeletal maturation	83550	GPR101	OMIM:300942
HP:0005616	Accelerated skeletal maturation	7681	MKRN3	OMIM:615346
HP:0005616	Accelerated skeletal maturation	3953	LEPR	ORPHA:179494
HP:0001853	Bifid distal phalanx of toe	4920	ROR2	OMIM:268310
HP:0001853	Bifid distal phalanx of toe	55012	PPP2R3C	OMIM:618419
HP:0001853	Bifid distal phalanx of toe	7474	WNT5A	OMIM:180700
HP:0001853	Bifid distal phalanx of toe	1855	DVL1	OMIM:180700
HP:0009703	Synostosis involving the 1st metacarpal	10084	PQBP1	OMIM:309500
HP:0009703	Synostosis involving the 1st metacarpal	4841	NONO	ORPHA:466791
HP:0005613	Aplasia/hypoplasia of the femur	9949	AMMECR1	OMIM:300990
HP:0005613	Aplasia/hypoplasia of the femur	8200	GDF5	OMIM:200700
HP:0005613	Aplasia/hypoplasia of the femur	64841	GNPNAT1	OMIM:619598
HP:0005613	Aplasia/hypoplasia of the femur	10588	MTHFS	OMIM:618367
HP:0005613	Aplasia/hypoplasia of the femur	65250	CPLANE1	OMIM:277170
HP:0005613	Aplasia/hypoplasia of the femur	23483	TGDS	OMIM:616145
HP:0005613	Aplasia/hypoplasia of the femur	55503	TRPV6	OMIM:618188
HP:0005613	Aplasia/hypoplasia of the femur	83871	RAB34	OMIM:620718
HP:0005613	Aplasia/hypoplasia of the femur	57167	SALL4	OMIM:147750
HP:0005613	Aplasia/hypoplasia of the femur	815	CAMK2A	OMIM:617798
HP:0005613	Aplasia/hypoplasia of the femur	727857	BHLHA9	ORPHA:3329
HP:0005613	Aplasia/hypoplasia of the femur	1317	SLC31A1	OMIM:620306
HP:0005613	Aplasia/hypoplasia of the femur	2261	FGFR3	ORPHA:1860
HP:0005613	Aplasia/hypoplasia of the femur	2261	FGFR3	OMIM:100800
HP:0005613	Aplasia/hypoplasia of the femur	9496	TBX4	OMIM:147891
HP:0005613	Aplasia/hypoplasia of the femur	1280	COL2A1	ORPHA:94068
HP:0005613	Aplasia/hypoplasia of the femur	11128	POLR3A	OMIM:264090
HP:0005613	Aplasia/hypoplasia of the femur	11128	POLR3A	ORPHA:3455
HP:0005613	Aplasia/hypoplasia of the femur	6913	TBX15	ORPHA:93333
HP:0005613	Aplasia/hypoplasia of the femur	2317	FLNB	OMIM:108720
HP:0005613	Aplasia/hypoplasia of the femur	2317	FLNB	ORPHA:1190
HP:0005613	Aplasia/hypoplasia of the femur	79087	ALG12	OMIM:607143
HP:0005613	Aplasia/hypoplasia of the femur	22827	PUF60	ORPHA:508488
HP:0005613	Aplasia/hypoplasia of the femur	1836	SLC26A2	ORPHA:56304
HP:0005613	Aplasia/hypoplasia of the femur	8540	AGPS	OMIM:600121
HP:0005613	Aplasia/hypoplasia of the femur	3549	IHH	OMIM:607778
HP:0005613	Aplasia/hypoplasia of the femur	8802	SUCLG1	ORPHA:17
HP:0005613	Aplasia/hypoplasia of the femur	202018	TAPT1	OMIM:616897
HP:0005613	Aplasia/hypoplasia of the femur	8792	TNFRSF11A	OMIM:602080
HP:0005613	Aplasia/hypoplasia of the femur	871	SERPINH1	OMIM:613848
HP:0005613	Aplasia/hypoplasia of the femur	9898	UBAP2L	OMIM:620494
HP:0005613	Aplasia/hypoplasia of the femur	1301	COL11A1	ORPHA:440354
HP:0005613	Aplasia/hypoplasia of the femur	100151683	RNU4ATAC	ORPHA:2636
HP:0005613	Aplasia/hypoplasia of the femur	7476	WNT7A	OMIM:276820
HP:0005613	Aplasia/hypoplasia of the femur	7476	WNT7A	OMIM:228930
HP:0005613	Aplasia/hypoplasia of the femur	3459	IFNGR1	OMIM:209950
HP:0005613	Aplasia/hypoplasia of the femur	3425	IDUA	OMIM:607014
HP:0005613	Aplasia/hypoplasia of the femur	10940	POP1	OMIM:617396
HP:0005613	Aplasia/hypoplasia of the femur	26146	TRAF3IP1	OMIM:616629
HP:0005613	Aplasia/hypoplasia of the femur	2335	FN1	OMIM:184255
HP:0005613	Aplasia/hypoplasia of the femur	1311	COMP	ORPHA:750
HP:0005613	Aplasia/hypoplasia of the femur	1311	COMP	OMIM:132400
HP:0005613	Aplasia/hypoplasia of the femur	6399	TRAPPC2	ORPHA:93284
HP:0005613	Aplasia/hypoplasia of the femur	6399	TRAPPC2	OMIM:313400
HP:0005613	Aplasia/hypoplasia of the femur	65992	DDRGK1	OMIM:602557
HP:0005613	Aplasia/hypoplasia of the femur	9131	AIFM1	OMIM:300232
HP:0005613	Aplasia/hypoplasia of the femur	59341	TRPV4	OMIM:184095
HP:0005613	Aplasia/hypoplasia of the femur	59341	TRPV4	ORPHA:93314
HP:0005613	Aplasia/hypoplasia of the femur	59341	TRPV4	OMIM:113500
HP:0005613	Aplasia/hypoplasia of the femur	5885	RAD21	OMIM:614701
HP:0005613	Aplasia/hypoplasia of the femur	89970	RSPRY1	OMIM:616723
HP:0005613	Aplasia/hypoplasia of the femur	89970	RSPRY1	ORPHA:457395
HP:0005613	Aplasia/hypoplasia of the femur	755	CFAP410	OMIM:602271
HP:0005613	Aplasia/hypoplasia of the femur	4796	TONSL	ORPHA:93357
HP:0005613	Aplasia/hypoplasia of the femur	91147	TMEM67	OMIM:602152
HP:0005613	Aplasia/hypoplasia of the femur	8720	MBTPS1	OMIM:618392
HP:0005613	Aplasia/hypoplasia of the femur	10651	MTX2	OMIM:619127
HP:0005613	Aplasia/hypoplasia of the femur	6473	SHOX	OMIM:249700
HP:0005613	Aplasia/hypoplasia of the femur	6473	SHOX	ORPHA:2632
HP:0005613	Aplasia/hypoplasia of the femur	23233	EXOC6B	OMIM:618395
HP:0005613	Aplasia/hypoplasia of the femur	8838	CCN6	ORPHA:1159
HP:0005613	Aplasia/hypoplasia of the femur	10216	PRG4	ORPHA:2848
HP:0005613	Aplasia/hypoplasia of the femur	388015	RTL1	ORPHA:96334
HP:0005613	Aplasia/hypoplasia of the femur	8788	DLK1	ORPHA:96334
HP:0005613	Aplasia/hypoplasia of the femur	55384	MEG3	ORPHA:96334
HP:0005613	Aplasia/hypoplasia of the femur	124583	CANT1	OMIM:251450
HP:0005613	Aplasia/hypoplasia of the femur	124583	CANT1	OMIM:617719
HP:0005613	Aplasia/hypoplasia of the femur	4148	MATN3	OMIM:607078
HP:0005613	Aplasia/hypoplasia of the femur	126792	B3GALT6	OMIM:271640
HP:0005613	Aplasia/hypoplasia of the femur	4318	MMP9	OMIM:613073
HP:0005613	Aplasia/hypoplasia of the femur	84068	SLC10A7	OMIM:618363
HP:0005613	Aplasia/hypoplasia of the femur	5286	PIK3C2A	OMIM:618440
HP:0005613	Aplasia/hypoplasia of the femur	9469	CHST3	OMIM:143095
HP:0005613	Aplasia/hypoplasia of the femur	1108	CHD4	OMIM:617159
HP:0005613	Aplasia/hypoplasia of the femur	54187	NANS	OMIM:610442
HP:0005613	Aplasia/hypoplasia of the femur	64131	XYLT1	ORPHA:370930
HP:0005613	Aplasia/hypoplasia of the femur	658	BMPR1B	OMIM:609441
HP:0005613	Aplasia/hypoplasia of the femur	91252	SLC39A13	ORPHA:157965
HP:0005613	Aplasia/hypoplasia of the femur	91252	SLC39A13	OMIM:612350
HP:0005613	Aplasia/hypoplasia of the femur	860	RUNX2	OMIM:119600
HP:0005613	Aplasia/hypoplasia of the femur	9742	IFT140	OMIM:266920
HP:0005613	Aplasia/hypoplasia of the femur	80169	CTC1	OMIM:612199
HP:0005613	Aplasia/hypoplasia of the femur	1297	COL9A1	OMIM:614134
HP:0005613	Aplasia/hypoplasia of the femur	3930	LBR	OMIM:618019
HP:0005613	Aplasia/hypoplasia of the femur	25886	POC1A	OMIM:614813
HP:0005613	Aplasia/hypoplasia of the femur	5830	PEX5	OMIM:616716
HP:0000957	Cafe-au-lait spot	3479	IGF1	ORPHA:73272
HP:0000957	Cafe-au-lait spot	8036	SHOC2	OMIM:607721
HP:0000957	Cafe-au-lait spot	8367	H4C5	OMIM:619950
HP:0000957	Cafe-au-lait spot	8216	LZTR1	OMIM:616564
HP:0000957	Cafe-au-lait spot	8216	LZTR1	OMIM:605275
HP:0000957	Cafe-au-lait spot	4683	NBN	OMIM:251260
HP:0000957	Cafe-au-lait spot	23135	KDM6B	OMIM:618505
HP:0000957	Cafe-au-lait spot	55240	STEAP3	OMIM:615234
HP:0000957	Cafe-au-lait spot	55240	STEAP3	ORPHA:300298
HP:0000957	Cafe-au-lait spot	55654	TMEM127	OMIM:171300
HP:0000957	Cafe-au-lait spot	4149	MAX	OMIM:171300
HP:0000957	Cafe-au-lait spot	5979	RET	OMIM:171300
HP:0000957	Cafe-au-lait spot	7428	VHL	OMIM:171300
HP:0000957	Cafe-au-lait spot	161742	SPRED1	OMIM:611431
HP:0000957	Cafe-au-lait spot	5894	RAF1	OMIM:611554
HP:0000957	Cafe-au-lait spot	5894	RAF1	OMIM:611553
HP:0000957	Cafe-au-lait spot	3659	IRF1	OMIM:620668
HP:0000957	Cafe-au-lait spot	4254	KITLG	OMIM:145250
HP:0000957	Cafe-au-lait spot	4254	KITLG	OMIM:619947
HP:0000957	Cafe-au-lait spot	324	APC	ORPHA:99818
HP:0000957	Cafe-au-lait spot	64682	ANAPC1	OMIM:618625
HP:0000957	Cafe-au-lait spot	4076	CAPRIN1	OMIM:620782
HP:0000957	Cafe-au-lait spot	10060	ABCC9	OMIM:619719
HP:0000957	Cafe-au-lait spot	6548	SLC9A1	OMIM:616291
HP:0000957	Cafe-au-lait spot	197131	UBR1	OMIM:243800
HP:0000957	Cafe-au-lait spot	5728	PTEN	ORPHA:210548
HP:0000957	Cafe-au-lait spot	220296	HEPACAM	ORPHA:210548
HP:0000957	Cafe-au-lait spot	2175	FANCA	OMIM:227650
HP:0000957	Cafe-au-lait spot	55215	FANCI	OMIM:609053
HP:0000957	Cafe-au-lait spot	4893	NRAS	OMIM:613224
HP:0000957	Cafe-au-lait spot	472	ATM	OMIM:208900
HP:0000957	Cafe-au-lait spot	2188	FANCF	OMIM:603467
HP:0000957	Cafe-au-lait spot	284058	KANSL1	ORPHA:363958
HP:0000957	Cafe-au-lait spot	284058	KANSL1	ORPHA:363965
HP:0000957	Cafe-au-lait spot	54543	TOMM7	OMIM:620601
HP:0000957	Cafe-au-lait spot	3481	IGF2	OMIM:180860
HP:0000957	Cafe-au-lait spot	3481	IGF2	ORPHA:397590
HP:0000957	Cafe-au-lait spot	4763	NF1	ORPHA:363700
HP:0000957	Cafe-au-lait spot	4763	NF1	OMIM:162210
HP:0000957	Cafe-au-lait spot	2178	FANCE	OMIM:600901
HP:0000957	Cafe-au-lait spot	7156	TOP3A	OMIM:618097
HP:0000957	Cafe-au-lait spot	2475	MTOR	ORPHA:457485
HP:0000957	Cafe-au-lait spot	2475	MTOR	OMIM:616638
HP:0000957	Cafe-au-lait spot	6663	SOX10	OMIM:611584
HP:0000957	Cafe-au-lait spot	51729	WBP11	OMIM:619227
HP:0000957	Cafe-au-lait spot	5116	PCNT	OMIM:210720
HP:0000957	Cafe-au-lait spot	6874	TAF4	OMIM:620450
HP:0000957	Cafe-au-lait spot	4771	NF2	OMIM:101000
HP:0000957	Cafe-au-lait spot	699	BUB1	OMIM:620183
HP:0000957	Cafe-au-lait spot	1186	CLCN7	OMIM:618541
HP:0000957	Cafe-au-lait spot	57680	CHD8	OMIM:615032
HP:0000957	Cafe-au-lait spot	2033	EP300	OMIM:180849
HP:0000957	Cafe-au-lait spot	1387	CREBBP	OMIM:180849
HP:0000957	Cafe-au-lait spot	3458	IFNG	OMIM:613254
HP:0000957	Cafe-au-lait spot	7249	TSC2	OMIM:613254
HP:0000957	Cafe-au-lait spot	10283	CWC27	OMIM:250410
HP:0000957	Cafe-au-lait spot	10283	CWC27	ORPHA:166035
HP:0000957	Cafe-au-lait spot	8936	WASF1	OMIM:618707
HP:0000957	Cafe-au-lait spot	55719	SLF2	OMIM:620184
HP:0000957	Cafe-au-lait spot	5605	MAP2K2	OMIM:615280
HP:0000957	Cafe-au-lait spot	285590	SH3PXD2B	OMIM:249420
HP:0000957	Cafe-au-lait spot	5594	MAPK1	OMIM:619087
HP:0000957	Cafe-au-lait spot	9702	CEP57	OMIM:614114
HP:0000957	Cafe-au-lait spot	1028	CDKN1C	ORPHA:397590
HP:0000957	Cafe-au-lait spot	5324	PLAG1	ORPHA:397590
HP:0000957	Cafe-au-lait spot	8091	HMGA2	ORPHA:397590
HP:0000957	Cafe-au-lait spot	641	BLM	OMIM:210900
HP:0000957	Cafe-au-lait spot	641	BLM	ORPHA:125
HP:0000957	Cafe-au-lait spot	5500	PPP1CB	OMIM:617506
HP:0000957	Cafe-au-lait spot	7248	TSC1	OMIM:191100
HP:0000957	Cafe-au-lait spot	79728	PALB2	OMIM:610832
HP:0000957	Cafe-au-lait spot	675	BRCA2	OMIM:605724
HP:0000957	Cafe-au-lait spot	2177	FANCD2	OMIM:227646
HP:0000957	Cafe-au-lait spot	2176	FANCC	OMIM:227645
HP:0000957	Cafe-au-lait spot	55120	FANCL	OMIM:614083
HP:0000957	Cafe-au-lait spot	9968	MED12	OMIM:300895
HP:0000957	Cafe-au-lait spot	4221	MEN1	OMIM:131100
HP:0000957	Cafe-au-lait spot	9652	SKIC3	OMIM:222470
HP:0000957	Cafe-au-lait spot	9652	SKIC3	ORPHA:84064
HP:0000957	Cafe-au-lait spot	55023	PHIP	OMIM:617991
HP:0000957	Cafe-au-lait spot	55023	PHIP	ORPHA:589905
HP:0000957	Cafe-au-lait spot	1315	COPB1	OMIM:619255
HP:0000957	Cafe-au-lait spot	84464	SLX4	OMIM:613951
HP:0000957	Cafe-au-lait spot	157570	ESCO2	OMIM:268300
HP:0000957	Cafe-au-lait spot	6595	SMARCA2	OMIM:601358
HP:0000957	Cafe-au-lait spot	5781	PTPN11	OMIM:151100
HP:0000957	Cafe-au-lait spot	5781	PTPN11	OMIM:163950
HP:0000957	Cafe-au-lait spot	867	CBL	OMIM:613563
HP:0000957	Cafe-au-lait spot	6499	SKIC2	ORPHA:84064
HP:0000957	Cafe-au-lait spot	22907	DHX30	OMIM:617804
HP:0000957	Cafe-au-lait spot	5426	POLE	OMIM:618336
HP:0000957	Cafe-au-lait spot	9898	UBAP2L	OMIM:620494
HP:0000957	Cafe-au-lait spot	673	BRAF	OMIM:163950
HP:0000957	Cafe-au-lait spot	5604	MAP2K1	OMIM:163950
HP:0000957	Cafe-au-lait spot	8085	KMT2D	OMIM:147920
HP:0000957	Cafe-au-lait spot	7403	KDM6A	OMIM:147920
HP:0000957	Cafe-au-lait spot	2783	GNB2	OMIM:619503
HP:0000957	Cafe-au-lait spot	6418	SET	OMIM:618106
HP:0000957	Cafe-au-lait spot	5932	RBBP8	OMIM:606744
HP:0000957	Cafe-au-lait spot	9319	TRIP13	OMIM:617598
HP:0000957	Cafe-au-lait spot	64864	RFX7	OMIM:620330
HP:0000957	Cafe-au-lait spot	4436	MSH2	OMIM:619096
HP:0000957	Cafe-au-lait spot	2956	MSH6	OMIM:619097
HP:0000957	Cafe-au-lait spot	5980	REV3L	ORPHA:570
HP:0000957	Cafe-au-lait spot	23129	PLXND1	ORPHA:570
HP:0000957	Cafe-au-lait spot	11253	MAN1B1	ORPHA:397941
HP:0000957	Cafe-au-lait spot	2189	FANCG	OMIM:614082
HP:0000957	Cafe-au-lait spot	2189	FANCG	ORPHA:84
HP:0000957	Cafe-au-lait spot	8242	KDM5C	ORPHA:85279
HP:0000957	Cafe-au-lait spot	3845	KRAS	ORPHA:1340
HP:0000957	Cafe-au-lait spot	672	BRCA1	ORPHA:84
HP:0000957	Cafe-au-lait spot	10459	MAD2L2	ORPHA:84
HP:0000957	Cafe-au-lait spot	7516	XRCC2	ORPHA:84
HP:0000957	Cafe-au-lait spot	29089	UBE2T	ORPHA:84
HP:0000957	Cafe-au-lait spot	2187	FANCB	ORPHA:84
HP:0000957	Cafe-au-lait spot	5888	RAD51	ORPHA:84
HP:0000957	Cafe-au-lait spot	5889	RAD51C	ORPHA:84
HP:0000957	Cafe-au-lait spot	55159	RFWD3	ORPHA:84
HP:0000957	Cafe-au-lait spot	83990	BRIP1	ORPHA:84
HP:0000957	Cafe-au-lait spot	83990	BRIP1	OMIM:609054
HP:0000957	Cafe-au-lait spot	57697	FANCM	ORPHA:84
HP:0000957	Cafe-au-lait spot	2072	ERCC4	ORPHA:84
HP:0000957	Cafe-au-lait spot	11322	TMC6	ORPHA:302
HP:0000957	Cafe-au-lait spot	3574	IL7	ORPHA:302
HP:0000957	Cafe-au-lait spot	147138	TMC8	ORPHA:302
HP:0000957	Cafe-au-lait spot	10519	CIB1	ORPHA:302
HP:0000957	Cafe-au-lait spot	4292	MLH1	OMIM:276300
HP:0000957	Cafe-au-lait spot	207	AKT1	ORPHA:744
HP:0000957	Cafe-au-lait spot	207	AKT1	ORPHA:201
HP:0000957	Cafe-au-lait spot	10483	SEC23B	ORPHA:201
HP:0000957	Cafe-au-lait spot	6390	SDHB	ORPHA:201
HP:0000957	Cafe-au-lait spot	6392	SDHD	ORPHA:201
HP:0000957	Cafe-au-lait spot	6391	SDHC	ORPHA:201
HP:0000957	Cafe-au-lait spot	205717	USF3	ORPHA:201
HP:0000957	Cafe-au-lait spot	5290	PIK3CA	ORPHA:201
HP:0000957	Cafe-au-lait spot	100144748	KLLN	ORPHA:201
HP:0000957	Cafe-au-lait spot	117581	TWIST2	ORPHA:1807
HP:0000957	Cafe-au-lait spot	10058	ABCB6	ORPHA:241
HP:0000957	Cafe-au-lait spot	8626	TP63	ORPHA:69085
HP:0000957	Cafe-au-lait spot	9184	BUB3	ORPHA:1052
HP:0000957	Cafe-au-lait spot	701	BUB1B	ORPHA:1052
HP:0000957	Cafe-au-lait spot	5395	PMS2	OMIM:619101
HP:0000957	Cafe-au-lait spot	473	RERE	OMIM:616975
HP:0000957	Cafe-au-lait spot	5573	PRKAR1A	ORPHA:1359
HP:0000957	Cafe-au-lait spot	50940	PDE11A	ORPHA:1359
HP:0000957	Cafe-au-lait spot	2767	GNA11	ORPHA:1556
HP:0000957	Cafe-au-lait spot	151188	ARL6IP6	ORPHA:1556
HP:0031784	Abnormal ascending aorta morphology	1281	COL3A1	OMIM:130050
HP:0031784	Abnormal ascending aorta morphology	2200	FBN1	OMIM:608328
HP:0031784	Abnormal ascending aorta morphology	2200	FBN1	OMIM:604308
HP:0031784	Abnormal ascending aorta morphology	2200	FBN1	ORPHA:91387
HP:0031784	Abnormal ascending aorta morphology	11117	EMILIN1	OMIM:620080
HP:0031784	Abnormal ascending aorta morphology	4015	LOX	OMIM:617168
HP:0031784	Abnormal ascending aorta morphology	4015	LOX	ORPHA:91387
HP:0031784	Abnormal ascending aorta morphology	7043	TGFB3	OMIM:615582
HP:0031784	Abnormal ascending aorta morphology	7043	TGFB3	ORPHA:91387
HP:0031784	Abnormal ascending aorta morphology	8076	MFAP5	OMIM:616166
HP:0031784	Abnormal ascending aorta morphology	8076	MFAP5	ORPHA:91387
HP:0031784	Abnormal ascending aorta morphology	4638	MYLK	OMIM:613780
HP:0031784	Abnormal ascending aorta morphology	4638	MYLK	ORPHA:91387
HP:0031784	Abnormal ascending aorta morphology	54538	ROBO4	OMIM:618496
HP:0031784	Abnormal ascending aorta morphology	2301	FOXE3	OMIM:617349
HP:0031784	Abnormal ascending aorta morphology	2301	FOXE3	ORPHA:91387
HP:0031784	Abnormal ascending aorta morphology	79875	THSD4	OMIM:619825
HP:0031784	Abnormal ascending aorta morphology	79875	THSD4	ORPHA:91387
HP:0031784	Abnormal ascending aorta morphology	4088	SMAD3	OMIM:613795
HP:0031784	Abnormal ascending aorta morphology	4088	SMAD3	ORPHA:91387
HP:0031784	Abnormal ascending aorta morphology	7046	TGFBR1	OMIM:609192
HP:0031784	Abnormal ascending aorta morphology	7046	TGFBR1	ORPHA:91387
HP:0031784	Abnormal ascending aorta morphology	4629	MYH11	OMIM:132900
HP:0031784	Abnormal ascending aorta morphology	4629	MYH11	ORPHA:229
HP:0031784	Abnormal ascending aorta morphology	4629	MYH11	ORPHA:91387
HP:0031784	Abnormal ascending aorta morphology	4091	SMAD6	OMIM:614823
HP:0031784	Abnormal ascending aorta morphology	4091	SMAD6	ORPHA:402075
HP:0031784	Abnormal ascending aorta morphology	7048	TGFBR2	OMIM:610168
HP:0031784	Abnormal ascending aorta morphology	7048	TGFBR2	ORPHA:91387
HP:0031784	Abnormal ascending aorta morphology	5592	PRKG1	OMIM:615436
HP:0031784	Abnormal ascending aorta morphology	5592	PRKG1	ORPHA:91387
HP:0031784	Abnormal ascending aorta morphology	4851	NOTCH1	ORPHA:402075
HP:0031784	Abnormal ascending aorta morphology	1482	NKX2-5	ORPHA:402075
HP:0031784	Abnormal ascending aorta morphology	140628	GATA5	ORPHA:402075
HP:0031784	Abnormal ascending aorta morphology	59	ACTA2	OMIM:611788
HP:0031784	Abnormal ascending aorta morphology	59	ACTA2	ORPHA:91387
HP:0031784	Abnormal ascending aorta morphology	4087	SMAD2	ORPHA:91387
HP:0031784	Abnormal ascending aorta morphology	7042	TGFB2	ORPHA:91387
HP:0031784	Abnormal ascending aorta morphology	4089	SMAD4	ORPHA:91387
HP:0031784	Abnormal ascending aorta morphology	4144	MAT2A	ORPHA:91387
HP:0031784	Abnormal ascending aorta morphology	23493	HEY2	ORPHA:91387
HP:0031784	Abnormal ascending aorta morphology	2006	ELN	ORPHA:91387
HP:0031784	Abnormal ascending aorta morphology	2783	GNB2	OMIM:619503
HP:0031785	Abnormal eyelid movement	1180	CLCN1	OMIM:160800
HP:0031785	Abnormal eyelid movement	1180	CLCN1	OMIM:255700
HP:0010950	Abnormal fourth ventricle morphology	10682	EBP	ORPHA:401973
HP:0010950	Abnormal fourth ventricle morphology	10682	EBP	OMIM:300960
HP:0010950	Abnormal fourth ventricle morphology	10682	EBP	OMIM:302960
HP:0010950	Abnormal fourth ventricle morphology	56896	DPYSL5	OMIM:619435
HP:0010950	Abnormal fourth ventricle morphology	56896	DPYSL5	ORPHA:7
HP:0010950	Abnormal fourth ventricle morphology	3265	HRAS	ORPHA:2612
HP:0010950	Abnormal fourth ventricle morphology	3845	KRAS	ORPHA:2612
HP:0010950	Abnormal fourth ventricle morphology	3845	KRAS	OMIM:609942
HP:0010950	Abnormal fourth ventricle morphology	4893	NRAS	ORPHA:2612
HP:0010950	Abnormal fourth ventricle morphology	4893	NRAS	OMIM:249400
HP:0010950	Abnormal fourth ventricle morphology	23556	PIGN	ORPHA:2059
HP:0010950	Abnormal fourth ventricle morphology	7355	SLC35A2	ORPHA:356961
HP:0010950	Abnormal fourth ventricle morphology	65062	TMEM237	OMIM:614424
HP:0010950	Abnormal fourth ventricle morphology	65062	TMEM237	ORPHA:564
HP:0010950	Abnormal fourth ventricle morphology	7545	ZIC1	OMIM:616602
HP:0010950	Abnormal fourth ventricle morphology	7545	ZIC1	OMIM:618736
HP:0010950	Abnormal fourth ventricle morphology	84942	WDR73	OMIM:251300
HP:0010950	Abnormal fourth ventricle morphology	2737	GLI3	ORPHA:36
HP:0010950	Abnormal fourth ventricle morphology	374654	KIF7	ORPHA:36
HP:0010950	Abnormal fourth ventricle morphology	79848	CSPP1	ORPHA:397715
HP:0010950	Abnormal fourth ventricle morphology	79848	CSPP1	ORPHA:564
HP:0010950	Abnormal fourth ventricle morphology	9786	KIAA0586	ORPHA:397715
HP:0010950	Abnormal fourth ventricle morphology	57465	TBC1D24	OMIM:220500
HP:0010950	Abnormal fourth ventricle morphology	57465	TBC1D24	ORPHA:79500
HP:0010950	Abnormal fourth ventricle morphology	55112	DYNC2I1	ORPHA:93271
HP:0010950	Abnormal fourth ventricle morphology	57560	IFT80	ORPHA:93271
HP:0010950	Abnormal fourth ventricle morphology	57539	WDR35	ORPHA:93271
HP:0010950	Abnormal fourth ventricle morphology	79659	DYNC2H1	ORPHA:93271
HP:0010950	Abnormal fourth ventricle morphology	89891	DYNC2I2	ORPHA:93271
HP:0010950	Abnormal fourth ventricle morphology	1436	CSF1R	OMIM:618476
HP:0010950	Abnormal fourth ventricle morphology	84162	BLTP1	OMIM:617822
HP:0010950	Abnormal fourth ventricle morphology	4081	MAB21L1	OMIM:618479
HP:0010950	Abnormal fourth ventricle morphology	4081	MAB21L1	ORPHA:495875
HP:0010950	Abnormal fourth ventricle morphology	51259	TMEM216	OMIM:603194
HP:0010950	Abnormal fourth ventricle morphology	51259	TMEM216	ORPHA:564
HP:0010950	Abnormal fourth ventricle morphology	55636	CHD7	ORPHA:138
HP:0010950	Abnormal fourth ventricle morphology	9723	SEMA3E	ORPHA:138
HP:0010950	Abnormal fourth ventricle morphology	2218	FKTN	OMIM:236670
HP:0010950	Abnormal fourth ventricle morphology	2218	FKTN	ORPHA:899
HP:0010950	Abnormal fourth ventricle morphology	9215	LARGE1	OMIM:236670
HP:0010950	Abnormal fourth ventricle morphology	9215	LARGE1	ORPHA:899
HP:0010950	Abnormal fourth ventricle morphology	9215	LARGE1	OMIM:613154
HP:0010950	Abnormal fourth ventricle morphology	84892	POMGNT2	ORPHA:899
HP:0010950	Abnormal fourth ventricle morphology	148789	B3GALNT2	ORPHA:899
HP:0010950	Abnormal fourth ventricle morphology	1282	COL4A1	ORPHA:899
HP:0010950	Abnormal fourth ventricle morphology	729920	CRPPA	ORPHA:899
HP:0010950	Abnormal fourth ventricle morphology	729920	CRPPA	OMIM:614643
HP:0010950	Abnormal fourth ventricle morphology	10329	RXYLT1	ORPHA:899
HP:0010950	Abnormal fourth ventricle morphology	1605	DAG1	ORPHA:899
HP:0010950	Abnormal fourth ventricle morphology	11041	B4GAT1	ORPHA:899
HP:0010950	Abnormal fourth ventricle morphology	11041	B4GAT1	OMIM:615287
HP:0010950	Abnormal fourth ventricle morphology	79068	FTO	OMIM:612938
HP:0010950	Abnormal fourth ventricle morphology	57492	ARID1B	OMIM:135900
HP:0010950	Abnormal fourth ventricle morphology	57492	ARID1B	ORPHA:1465
HP:0010950	Abnormal fourth ventricle morphology	3899	AFF3	OMIM:619297
HP:0010950	Abnormal fourth ventricle morphology	25885	POLR1A	OMIM:616462
HP:0010950	Abnormal fourth ventricle morphology	6597	SMARCA4	ORPHA:1465
HP:0010950	Abnormal fourth ventricle morphology	6597	SMARCA4	OMIM:614609
HP:0010950	Abnormal fourth ventricle morphology	6598	SMARCB1	ORPHA:1465
HP:0010950	Abnormal fourth ventricle morphology	6598	SMARCB1	OMIM:614608
HP:0010950	Abnormal fourth ventricle morphology	6659	SOX4	ORPHA:1465
HP:0010950	Abnormal fourth ventricle morphology	8289	ARID1A	ORPHA:1465
HP:0010950	Abnormal fourth ventricle morphology	8289	ARID1A	OMIM:614607
HP:0010950	Abnormal fourth ventricle morphology	5977	DPF2	ORPHA:1465
HP:0010950	Abnormal fourth ventricle morphology	6601	SMARCC2	ORPHA:1465
HP:0010950	Abnormal fourth ventricle morphology	6602	SMARCD1	ORPHA:1465
HP:0010950	Abnormal fourth ventricle morphology	196528	ARID2	ORPHA:1465
HP:0010950	Abnormal fourth ventricle morphology	6605	SMARCE1	ORPHA:1465
HP:0010950	Abnormal fourth ventricle morphology	6605	SMARCE1	OMIM:616938
HP:0010950	Abnormal fourth ventricle morphology	6664	SOX11	ORPHA:1465
HP:0010950	Abnormal fourth ventricle morphology	23545	ATP6V0A2	ORPHA:2834
HP:0010950	Abnormal fourth ventricle morphology	23545	ATP6V0A2	OMIM:219200
HP:0010950	Abnormal fourth ventricle morphology	23545	ATP6V0A2	ORPHA:357074
HP:0010950	Abnormal fourth ventricle morphology	1801	DPH1	OMIM:616901
HP:0010950	Abnormal fourth ventricle morphology	1801	DPH1	ORPHA:459061
HP:0010950	Abnormal fourth ventricle morphology	27315	PGAP2	OMIM:614207
HP:0010950	Abnormal fourth ventricle morphology	157570	ESCO2	ORPHA:2319
HP:0010950	Abnormal fourth ventricle morphology	5340	PLG	ORPHA:722
HP:0010950	Abnormal fourth ventricle morphology	5340	PLG	OMIM:217090
HP:0010950	Abnormal fourth ventricle morphology	1717	DHCR7	OMIM:270400
HP:0010950	Abnormal fourth ventricle morphology	84314	TMEM107	ORPHA:564
HP:0010950	Abnormal fourth ventricle morphology	26123	TCTN3	ORPHA:564
HP:0010950	Abnormal fourth ventricle morphology	79867	TCTN2	ORPHA:564
HP:0010950	Abnormal fourth ventricle morphology	79600	TCTN1	ORPHA:564
HP:0010950	Abnormal fourth ventricle morphology	57096	RPGRIP1	ORPHA:564
HP:0010950	Abnormal fourth ventricle morphology	80184	CEP290	ORPHA:564
HP:0010950	Abnormal fourth ventricle morphology	80184	CEP290	OMIM:611134
HP:0010950	Abnormal fourth ventricle morphology	57545	CC2D2A	ORPHA:564
HP:0010950	Abnormal fourth ventricle morphology	79583	TMEM231	ORPHA:564
HP:0010950	Abnormal fourth ventricle morphology	79770	TXNDC15	ORPHA:564
HP:0010950	Abnormal fourth ventricle morphology	27077	B9D1	ORPHA:564
HP:0010950	Abnormal fourth ventricle morphology	23322	RPGRIP1L	ORPHA:564
HP:0010950	Abnormal fourth ventricle morphology	27031	NPHP3	OMIM:267010
HP:0010950	Abnormal fourth ventricle morphology	27031	NPHP3	OMIM:208540
HP:0010950	Abnormal fourth ventricle morphology	27031	NPHP3	ORPHA:3032
HP:0010950	Abnormal fourth ventricle morphology	23258	DENND5A	OMIM:617281
HP:0010950	Abnormal fourth ventricle morphology	171023	ASXL1	ORPHA:97297
HP:0010950	Abnormal fourth ventricle morphology	171023	ASXL1	OMIM:605039
HP:0010950	Abnormal fourth ventricle morphology	9184	BUB3	ORPHA:1052
HP:0010950	Abnormal fourth ventricle morphology	699	BUB1	ORPHA:1052
HP:0010950	Abnormal fourth ventricle morphology	9702	CEP57	ORPHA:1052
HP:0010950	Abnormal fourth ventricle morphology	9319	TRIP13	ORPHA:1052
HP:0010950	Abnormal fourth ventricle morphology	701	BUB1B	ORPHA:1052
HP:0010950	Abnormal fourth ventricle morphology	701	BUB1B	OMIM:257300
HP:0010950	Abnormal fourth ventricle morphology	84342	COG8	OMIM:611182
HP:0010950	Abnormal fourth ventricle morphology	84188	FAR1	ORPHA:438178
HP:0010950	Abnormal fourth ventricle morphology	84188	FAR1	OMIM:616154
HP:0010950	Abnormal fourth ventricle morphology	2260	FGFR1	OMIM:613001
HP:0010950	Abnormal fourth ventricle morphology	124997	WDR81	OMIM:617967
HP:0010950	Abnormal fourth ventricle morphology	2683	B4GALT1	OMIM:607091
HP:0010950	Abnormal fourth ventricle morphology	2683	B4GALT1	ORPHA:79332
HP:0010950	Abnormal fourth ventricle morphology	26227	PHGDH	OMIM:256520
HP:0010950	Abnormal fourth ventricle morphology	10804	GJB6	ORPHA:477
HP:0010950	Abnormal fourth ventricle morphology	2706	GJB2	ORPHA:477
HP:0010950	Abnormal fourth ventricle morphology	55605	KIF21A	ORPHA:994
HP:0010950	Abnormal fourth ventricle morphology	4927	NUP88	ORPHA:994
HP:0010950	Abnormal fourth ventricle morphology	4654	MYOD1	ORPHA:994
HP:0010950	Abnormal fourth ventricle morphology	54551	MAGEL2	ORPHA:994
HP:0010950	Abnormal fourth ventricle morphology	4593	MUSK	ORPHA:994
HP:0010950	Abnormal fourth ventricle morphology	5913	RAPSN	ORPHA:994
HP:0010950	Abnormal fourth ventricle morphology	6572	SLC18A3	ORPHA:994
HP:0010950	Abnormal fourth ventricle morphology	285489	DOK7	ORPHA:994
HP:0010950	Abnormal fourth ventricle morphology	23126	POGZ	OMIM:616364
HP:0010950	Abnormal fourth ventricle morphology	7737	RNF113A	OMIM:300953
HP:0010950	Abnormal fourth ventricle morphology	56006	SMG9	OMIM:616920
HP:0010950	Abnormal fourth ventricle morphology	998	CDC42	ORPHA:487796
HP:0010950	Abnormal fourth ventricle morphology	51524	TMEM138	OMIM:614465
HP:0010950	Abnormal fourth ventricle morphology	11128	POLR3A	OMIM:264090
HP:0010950	Abnormal fourth ventricle morphology	4534	MTM1	OMIM:310400
HP:0010950	Abnormal fourth ventricle morphology	526	ATP6V1B2	ORPHA:79500
HP:0010950	Abnormal fourth ventricle morphology	54880	BCOR	OMIM:300166
HP:0010950	Abnormal fourth ventricle morphology	55640	FLVCR2	OMIM:225790
HP:0010950	Abnormal fourth ventricle morphology	28952	CCDC22	OMIM:300963
HP:0010950	Abnormal fourth ventricle morphology	28952	CCDC22	ORPHA:7
HP:0010950	Abnormal fourth ventricle morphology	1654	DDX3X	ORPHA:3338
HP:0010950	Abnormal fourth ventricle morphology	80210	ARMC9	OMIM:617622
HP:0010950	Abnormal fourth ventricle morphology	5500	PPP1CB	OMIM:617506
HP:0010950	Abnormal fourth ventricle morphology	54676	GTPBP2	OMIM:617988
HP:0010950	Abnormal fourth ventricle morphology	63895	PIEZO2	OMIM:248700
HP:0010950	Abnormal fourth ventricle morphology	9897	WASHC5	OMIM:220210
HP:0010950	Abnormal fourth ventricle morphology	9897	WASHC5	ORPHA:7
HP:0010950	Abnormal fourth ventricle morphology	2239	GPC4	ORPHA:373
HP:0010950	Abnormal fourth ventricle morphology	2719	GPC3	ORPHA:373
HP:0010950	Abnormal fourth ventricle morphology	23007	PLCH1	OMIM:619895
HP:0010950	Abnormal fourth ventricle morphology	132884	EVC2	OMIM:225500
HP:0010950	Abnormal fourth ventricle morphology	2121	EVC	OMIM:225500
HP:0010950	Abnormal fourth ventricle morphology	153241	CEP120	OMIM:616300
HP:0010950	Abnormal fourth ventricle morphology	523	ATP6V1A	ORPHA:357074
HP:0010950	Abnormal fourth ventricle morphology	529	ATP6V1E1	ORPHA:357074
HP:0010950	Abnormal fourth ventricle morphology	3798	KIF5A	OMIM:617235
HP:0010950	Abnormal fourth ventricle morphology	1028	CDKN1C	OMIM:130650
HP:0010950	Abnormal fourth ventricle morphology	3481	IGF2	OMIM:130650
HP:0010950	Abnormal fourth ventricle morphology	3784	KCNQ1	OMIM:130650
HP:0010950	Abnormal fourth ventricle morphology	10984	KCNQ1OT1	OMIM:130650
HP:0010950	Abnormal fourth ventricle morphology	738	VPS51	OMIM:618606
HP:0010950	Abnormal fourth ventricle morphology	1376	CPT2	ORPHA:228305
HP:0010950	Abnormal fourth ventricle morphology	10195	ALG3	ORPHA:79321
HP:0010950	Abnormal fourth ventricle morphology	8481	OFD1	ORPHA:2750
HP:0010950	Abnormal fourth ventricle morphology	219844	HYLS1	OMIM:236680
HP:0010950	Abnormal fourth ventricle morphology	57020	VPS35L	ORPHA:7
HP:0010950	Abnormal fourth ventricle morphology	4281	MID1	ORPHA:2745
HP:0010950	Abnormal fourth ventricle morphology	8905	AP1S2	OMIM:304340
HP:0010950	Abnormal fourth ventricle morphology	1802	DPH2	ORPHA:459061
HP:0010950	Abnormal fourth ventricle morphology	7846	TUBA1A	ORPHA:171680
HP:0010950	Abnormal fourth ventricle morphology	4287	ATXN3	OMIM:109150
HP:0010950	Abnormal fourth ventricle morphology	4287	ATXN3	ORPHA:276244
HP:0010950	Abnormal fourth ventricle morphology	4287	ATXN3	ORPHA:276241
HP:0010950	Abnormal fourth ventricle morphology	4287	ATXN3	ORPHA:276238
HP:0010950	Abnormal fourth ventricle morphology	203068	TUBB	OMIM:615771
HP:0010950	Abnormal fourth ventricle morphology	116228	COX20	OMIM:619054
HP:0010950	Abnormal fourth ventricle morphology	9698	PUM1	OMIM:620719
HP:0010950	Abnormal fourth ventricle morphology	5879	RAC1	OMIM:617751
HP:0010950	Abnormal fourth ventricle morphology	440	ASNS	OMIM:615574
HP:0010950	Abnormal fourth ventricle morphology	123606	NIPA1	ORPHA:261183
HP:0010950	Abnormal fourth ventricle morphology	7283	TUBG1	ORPHA:261183
HP:0010950	Abnormal fourth ventricle morphology	81614	NIPA2	ORPHA:261183
HP:0010950	Abnormal fourth ventricle morphology	26005	C2CD3	ORPHA:434179
HP:0010950	Abnormal fourth ventricle morphology	8573	CASK	OMIM:300749
HP:0010950	Abnormal fourth ventricle morphology	267010	RNU12	OMIM:620208
HP:0010950	Abnormal fourth ventricle morphology	54973	INTS11	OMIM:620428
HP:0010950	Abnormal fourth ventricle morphology	4361	MRE11	ORPHA:251347
HP:0010950	Abnormal fourth ventricle morphology	8239	USP9X	ORPHA:480880
HP:0010950	Abnormal fourth ventricle morphology	91147	TMEM67	OMIM:610688
HP:0010950	Abnormal fourth ventricle morphology	79645	CLXN	OMIM:620642
HP:0010950	Abnormal fourth ventricle morphology	23203	PMPCA	OMIM:213200
HP:0010950	Abnormal fourth ventricle morphology	23203	PMPCA	ORPHA:1170
HP:0010950	Abnormal fourth ventricle morphology	29925	GMPPB	ORPHA:370959
HP:0010950	Abnormal fourth ventricle morphology	79147	FKRP	ORPHA:370959
HP:0010950	Abnormal fourth ventricle morphology	29954	POMT2	ORPHA:370959
HP:0010950	Abnormal fourth ventricle morphology	84197	POMK	ORPHA:370959
HP:0010950	Abnormal fourth ventricle morphology	55624	POMGNT1	ORPHA:370959
HP:0010950	Abnormal fourth ventricle morphology	10585	POMT1	ORPHA:370959
HP:0010950	Abnormal fourth ventricle morphology	54903	MKS1	OMIM:249000
HP:0010950	Abnormal fourth ventricle morphology	6311	ATXN2	OMIM:183090
HP:0010950	Abnormal fourth ventricle morphology	80776	B9D2	OMIM:614175
HP:0010950	Abnormal fourth ventricle morphology	8550	MAPKAPK5	OMIM:619869
HP:0010950	Abnormal fourth ventricle morphology	284217	LAMA1	OMIM:615960
HP:0010950	Abnormal fourth ventricle morphology	284217	LAMA1	ORPHA:370022
HP:0010950	Abnormal fourth ventricle morphology	10352	WARS2	ORPHA:572798
HP:0010950	Abnormal fourth ventricle morphology	4208	MEF2C	OMIM:613443
HP:0010950	Abnormal fourth ventricle morphology	2911	GRM1	OMIM:614831
HP:0010950	Abnormal fourth ventricle morphology	55770	EXOC2	OMIM:619306
HP:0010950	Abnormal fourth ventricle morphology	79971	WLS	OMIM:619648
HP:0010950	Abnormal fourth ventricle morphology	6310	ATXN1	OMIM:164400
HP:0010950	Abnormal fourth ventricle morphology	5373	PMM2	OMIM:212065
HP:0010951	Abnormal third ventricle morphology	79848	CSPP1	ORPHA:397715
HP:0010951	Abnormal third ventricle morphology	9786	KIAA0586	ORPHA:397715
HP:0010951	Abnormal third ventricle morphology	57551	TAOK1	OMIM:619575
HP:0010951	Abnormal third ventricle morphology	7874	USP7	ORPHA:500055
HP:0010951	Abnormal third ventricle morphology	57498	KIDINS220	OMIM:617296
HP:0010951	Abnormal third ventricle morphology	10159	ATP6AP2	ORPHA:363654
HP:0010951	Abnormal third ventricle morphology	440	ASNS	OMIM:615574
HP:0010951	Abnormal third ventricle morphology	9215	LARGE1	OMIM:613154
HP:0010951	Abnormal third ventricle morphology	91875	TTC5	OMIM:619244
HP:0010951	Abnormal third ventricle morphology	26005	C2CD3	ORPHA:434179
HP:0010951	Abnormal third ventricle morphology	4953	ODC1	ORPHA:544488
HP:0010951	Abnormal third ventricle morphology	81857	MED25	ORPHA:464738
HP:0010951	Abnormal third ventricle morphology	8893	EIF2B5	OMIM:620315
HP:0010951	Abnormal third ventricle morphology	3781	KCNN2	OMIM:619725
HP:0010951	Abnormal third ventricle morphology	1786	DNMT1	ORPHA:314404
HP:0010951	Abnormal third ventricle morphology	90952	ESAM	OMIM:620371
HP:0010952	Mild fetal ventriculomegaly	55252	ASXL2	OMIM:617190
HP:0010952	Mild fetal ventriculomegaly	51021	MRPS16	OMIM:610498
HP:0010952	Mild fetal ventriculomegaly	23040	MYT1L	ORPHA:647799
HP:0010952	Mild fetal ventriculomegaly	9578	CDC42BPB	OMIM:619841
HP:0010952	Mild fetal ventriculomegaly	56896	DPYSL5	OMIM:619435
HP:0010953	Noncommunicating hydrocephalus	9231	DLG5	OMIM:620703
HP:0010953	Noncommunicating hydrocephalus	2302	FOXJ1	OMIM:618699
HP:0010953	Noncommunicating hydrocephalus	3458	IFNG	ORPHA:805
HP:0010953	Noncommunicating hydrocephalus	7248	TSC1	ORPHA:805
HP:0010953	Noncommunicating hydrocephalus	7249	TSC2	ORPHA:805
HP:0010953	Noncommunicating hydrocephalus	29998	BICRA	OMIM:619325
HP:0010953	Noncommunicating hydrocephalus	6599	SMARCC1	OMIM:620241
HP:0010953	Noncommunicating hydrocephalus	23030	KDM4B	OMIM:619320
HP:0010954	Hypoplastic right heart	1857	DVL3	OMIM:616894
HP:0010954	Hypoplastic right heart	348180	CTU2	OMIM:618142
HP:0010955	Dilatation of the bladder	4629	MYH11	OMIM:619350
HP:0010955	Dilatation of the bladder	4629	MYH11	OMIM:619351
HP:0010955	Dilatation of the bladder	4629	MYH11	ORPHA:2241
HP:0010955	Dilatation of the bladder	72	ACTG2	OMIM:155310
HP:0010955	Dilatation of the bladder	72	ACTG2	OMIM:619431
HP:0010955	Dilatation of the bladder	72	ACTG2	ORPHA:2604
HP:0010955	Dilatation of the bladder	72	ACTG2	ORPHA:2241
HP:0010955	Dilatation of the bladder	9860	LRIG2	OMIM:615112
HP:0010955	Dilatation of the bladder	554	AVPR2	OMIM:304800
HP:0010955	Dilatation of the bladder	10398	MYL9	OMIM:619365
HP:0010955	Dilatation of the bladder	359	AQP2	OMIM:125800
HP:0010955	Dilatation of the bladder	25802	LMOD1	ORPHA:2241
HP:0010955	Dilatation of the bladder	4638	MYLK	ORPHA:2241
HP:0010955	Dilatation of the bladder	7080	NKX2-1	ORPHA:209905
HP:0010955	Dilatation of the bladder	8626	TP63	OMIM:604292
HP:0010955	Dilatation of the bladder	2294	FOXF1	OMIM:265380
HP:0010955	Dilatation of the bladder	93649	MYOCD	OMIM:618719
HP:0010956	Fetal megacystis	4638	MYLK	OMIM:249210
HP:0010956	Fetal megacystis	4629	MYH11	OMIM:619351
HP:0010956	Fetal megacystis	25802	LMOD1	OMIM:619362
HP:0010956	Fetal megacystis	93649	MYOCD	OMIM:618719
HP:0010957	Congenital posterior urethral valve	3187	HNRNPH1	OMIM:620083
HP:0010957	Congenital posterior urethral valve	54796	BNC2	OMIM:618612
HP:0010957	Congenital posterior urethral valve	54796	BNC2	ORPHA:93110
HP:0010957	Congenital posterior urethral valve	10847	SRCAP	ORPHA:2044
HP:0010957	Congenital posterior urethral valve	10847	SRCAP	OMIM:136140
HP:0010957	Congenital posterior urethral valve	4281	MID1	OMIM:300000
HP:0010957	Congenital posterior urethral valve	1131	CHRM3	ORPHA:2970
HP:0010957	Congenital posterior urethral valve	1131	CHRM3	OMIM:100100
HP:0010957	Congenital posterior urethral valve	3481	IGF2	OMIM:180860
HP:0010957	Congenital posterior urethral valve	64324	NSD1	ORPHA:821
HP:0010957	Congenital posterior urethral valve	10297	APC2	ORPHA:821
HP:0010958	Bilateral renal agenesis	2737	GLI3	ORPHA:672
HP:0010958	Bilateral renal agenesis	9653	HS2ST1	OMIM:619194
HP:0010958	Bilateral renal agenesis	8516	ITGA8	OMIM:191830
HP:0010958	Bilateral renal agenesis	23426	GRIP1	OMIM:617667
HP:0010958	Bilateral renal agenesis	26281	FGF20	OMIM:615721
HP:0010958	Bilateral renal agenesis	341640	FREM2	OMIM:617666
HP:0010958	Bilateral renal agenesis	9928	KIF14	OMIM:616258
HP:0010958	Bilateral renal agenesis	9928	KIF14	OMIM:617914
HP:0010958	Bilateral renal agenesis	2674	GFRA1	OMIM:619887
HP:0010958	Bilateral renal agenesis	6091	ROBO1	OMIM:620305
HP:0010958	Bilateral renal agenesis	55191	NADSYN1	OMIM:618845
HP:0002529	Neuronal loss in central nervous system	5274	SERPINI1	OMIM:604218
HP:0002529	Neuronal loss in central nervous system	5663	PSEN1	OMIM:600274
HP:0002529	Neuronal loss in central nervous system	5663	PSEN1	OMIM:172700
HP:0002529	Neuronal loss in central nervous system	4137	MAPT	OMIM:600274
HP:0002529	Neuronal loss in central nervous system	4137	MAPT	OMIM:601104
HP:0002529	Neuronal loss in central nervous system	4137	MAPT	OMIM:172700
HP:0002529	Neuronal loss in central nervous system	4137	MAPT	OMIM:168600
HP:0002529	Neuronal loss in central nervous system	5621	PRNP	ORPHA:282166
HP:0002529	Neuronal loss in central nervous system	5621	PRNP	OMIM:600072
HP:0002529	Neuronal loss in central nervous system	9997	SCO2	OMIM:604377
HP:0002529	Neuronal loss in central nervous system	6904	TBCD	OMIM:617193
HP:0002529	Neuronal loss in central nervous system	25978	CHMP2B	OMIM:600795
HP:0002529	Neuronal loss in central nervous system	1436	CSF1R	OMIM:221820
HP:0002529	Neuronal loss in central nervous system	10479	SLC9A6	ORPHA:85278
HP:0002529	Neuronal loss in central nervous system	10479	SLC9A6	OMIM:300243
HP:0002529	Neuronal loss in central nervous system	2521	FUS	OMIM:608030
HP:0002529	Neuronal loss in central nervous system	54832	VPS13C	OMIM:616840
HP:0002529	Neuronal loss in central nervous system	5173	PDYN	OMIM:610245
HP:0002529	Neuronal loss in central nervous system	1786	DNMT1	ORPHA:314404
HP:0002529	Neuronal loss in central nervous system	1509	CTSD	OMIM:610127
HP:0002529	Neuronal loss in central nervous system	5428	POLG	OMIM:203700
HP:0002529	Neuronal loss in central nervous system	4864	NPC1	OMIM:257220
HP:0002529	Neuronal loss in central nervous system	203228	C9orf72	OMIM:105550
HP:0002529	Neuronal loss in central nervous system	2896	GRN	OMIM:607485
HP:0002529	Neuronal loss in central nervous system	9217	VAPB	OMIM:608627
HP:0002529	Neuronal loss in central nervous system	26580	BSCL2	ORPHA:363400
HP:0002529	Neuronal loss in central nervous system	26580	BSCL2	OMIM:615924
HP:0002529	Neuronal loss in central nervous system	9896	FIG4	ORPHA:3472
HP:0002529	Neuronal loss in central nervous system	55697	VAC14	ORPHA:3472
HP:0002529	Neuronal loss in central nervous system	9326	ZNHIT3	OMIM:260565
HP:0002529	Neuronal loss in central nervous system	5277	PIGA	OMIM:300868
HP:0002529	Neuronal loss in central nervous system	8722	CTSF	OMIM:615362
HP:0002529	Neuronal loss in central nervous system	8398	PLA2G6	OMIM:256600
HP:0002529	Neuronal loss in central nervous system	221927	BRAT1	OMIM:614498
HP:0002529	Neuronal loss in central nervous system	5660	PSAP	OMIM:611721
HP:0002529	Neuronal loss in central nervous system	79731	NARS2	OMIM:616239
HP:0002529	Neuronal loss in central nervous system	4287	ATXN3	OMIM:168600
HP:0002529	Neuronal loss in central nervous system	2629	GBA1	OMIM:168600
HP:0002529	Neuronal loss in central nervous system	126	ADH1C	OMIM:168600
HP:0002529	Neuronal loss in central nervous system	4576	MT-TT	OMIM:168600
HP:0002529	Neuronal loss in central nervous system	9627	SNCAIP	OMIM:168600
HP:0002529	Neuronal loss in central nervous system	6908	TBP	OMIM:168600
HP:0002529	Neuronal loss in central nervous system	6908	TBP	ORPHA:98759
HP:0002529	Neuronal loss in central nervous system	6908	TBP	OMIM:607136
HP:0002529	Neuronal loss in central nervous system	4929	NR4A2	OMIM:168600
HP:0002529	Neuronal loss in central nervous system	6311	ATXN2	OMIM:168600
HP:0002529	Neuronal loss in central nervous system	6315	ATXN8OS	OMIM:168600
HP:0002529	Neuronal loss in central nervous system	57582	KCNT1	OMIM:614959
HP:0002529	Neuronal loss in central nervous system	3064	HTT	OMIM:143100
HP:0002401	Stroke-like episode	5621	PRNP	ORPHA:282166
HP:0002401	Stroke-like episode	4702	NDUFA8	OMIM:619272
HP:0002401	Stroke-like episode	4574	MT-TS1	OMIM:540000
HP:0002401	Stroke-like episode	4574	MT-TS1	ORPHA:550
HP:0002401	Stroke-like episode	4575	MT-TS2	OMIM:540000
HP:0002401	Stroke-like episode	4575	MT-TS2	ORPHA:550
HP:0002401	Stroke-like episode	4535	MT-ND1	OMIM:540000
HP:0002401	Stroke-like episode	4535	MT-ND1	ORPHA:550
HP:0002401	Stroke-like episode	4567	MT-TL1	OMIM:540000
HP:0002401	Stroke-like episode	4567	MT-TL1	ORPHA:550
HP:0002401	Stroke-like episode	4512	MT-CO1	OMIM:540000
HP:0002401	Stroke-like episode	4512	MT-CO1	ORPHA:550
HP:0002401	Stroke-like episode	4513	MT-CO2	OMIM:540000
HP:0002401	Stroke-like episode	4513	MT-CO2	ORPHA:550
HP:0002401	Stroke-like episode	4514	MT-CO3	OMIM:540000
HP:0002401	Stroke-like episode	4514	MT-CO3	ORPHA:550
HP:0002401	Stroke-like episode	4519	MT-CYB	OMIM:540000
HP:0002401	Stroke-like episode	4519	MT-CYB	ORPHA:137675
HP:0002401	Stroke-like episode	4511	MT-TC	OMIM:540000
HP:0002401	Stroke-like episode	4572	MT-TQ	OMIM:540000
HP:0002401	Stroke-like episode	4572	MT-TQ	ORPHA:550
HP:0002401	Stroke-like episode	4577	MT-TV	OMIM:540000
HP:0002401	Stroke-like episode	4578	MT-TW	OMIM:540000
HP:0002401	Stroke-like episode	4578	MT-TW	ORPHA:550
HP:0002401	Stroke-like episode	4558	MT-TF	OMIM:540000
HP:0002401	Stroke-like episode	4558	MT-TF	ORPHA:550
HP:0002401	Stroke-like episode	4566	MT-TK	OMIM:540000
HP:0002401	Stroke-like episode	4540	MT-ND5	OMIM:540000
HP:0002401	Stroke-like episode	4540	MT-ND5	ORPHA:550
HP:0002401	Stroke-like episode	4541	MT-ND6	OMIM:540000
HP:0002401	Stroke-like episode	4541	MT-ND6	ORPHA:550
HP:0002401	Stroke-like episode	5654	HTRA1	ORPHA:199354
HP:0002401	Stroke-like episode	1798	DPAGT1	ORPHA:86309
HP:0002401	Stroke-like episode	7466	WFS1	OMIM:222300
HP:0002401	Stroke-like episode	4538	MT-ND4	ORPHA:550
HP:0002401	Stroke-like episode	4564	MT-TH	ORPHA:550
HP:0002401	Stroke-like episode	3980	LIG3	OMIM:619780
HP:0002401	Stroke-like episode	54344	DPM3	ORPHA:263494
HP:0002401	Stroke-like episode	6786	STIM1	OMIM:185070
HP:0002401	Stroke-like episode	91869	RFT1	ORPHA:244310
HP:0002401	Stroke-like episode	23600	AMACR	ORPHA:79095
HP:0002401	Stroke-like episode	129607	CMPK2	OMIM:621018
HP:0002401	Stroke-like episode	5373	PMM2	OMIM:212065
HP:0002401	Stroke-like episode	10128	LRPPRC	ORPHA:70472
HP:0002401	Stroke-like episode	7276	TTR	OMIM:105210
HP:0001249	Intellectual disability	401474	SAMD12	OMIM:601068
HP:0001249	Intellectual disability	401474	SAMD12	ORPHA:86814
HP:0001249	Intellectual disability	875	CBS	ORPHA:394
HP:0001249	Intellectual disability	875	CBS	OMIM:236200
HP:0001249	Intellectual disability	4524	MTHFR	ORPHA:395
HP:0001249	Intellectual disability	55703	POLR3B	OMIM:614381
HP:0001249	Intellectual disability	55703	POLR3B	OMIM:619742
HP:0001249	Intellectual disability	51256	TBC1D7	OMIM:248000
HP:0001249	Intellectual disability	1139	CHRNA7	ORPHA:199318
HP:0001249	Intellectual disability	51569	UFM1	OMIM:617899
HP:0001249	Intellectual disability	1024	CDK8	OMIM:618748
HP:0001249	Intellectual disability	51099	ABHD5	OMIM:275630
HP:0001249	Intellectual disability	55209	SETD5	ORPHA:404440
HP:0001249	Intellectual disability	55209	SETD5	OMIM:615761
HP:0001249	Intellectual disability	2731	GLDC	OMIM:605899
HP:0001249	Intellectual disability	5781	PTPN11	OMIM:156250
HP:0001249	Intellectual disability	5781	PTPN11	ORPHA:648
HP:0001249	Intellectual disability	5781	PTPN11	OMIM:163950
HP:0001249	Intellectual disability	5354	PLP1	ORPHA:99015
HP:0001249	Intellectual disability	5354	PLP1	OMIM:312080
HP:0001249	Intellectual disability	5354	PLP1	OMIM:312920
HP:0001249	Intellectual disability	3481	IGF2	ORPHA:231140
HP:0001249	Intellectual disability	283120	H19	ORPHA:231140
HP:0001249	Intellectual disability	396	ARHGDIA	OMIM:615244
HP:0001249	Intellectual disability	283489	CHAMP1	OMIM:616579
HP:0001249	Intellectual disability	2348	FOLR1	OMIM:613068
HP:0001249	Intellectual disability	23322	RPGRIP1L	ORPHA:220497
HP:0001249	Intellectual disability	23322	RPGRIP1L	OMIM:611560
HP:0001249	Intellectual disability	4867	NPHP1	ORPHA:220497
HP:0001249	Intellectual disability	4867	NPHP1	OMIM:266900
HP:0001249	Intellectual disability	4867	NPHP1	ORPHA:110
HP:0001249	Intellectual disability	65062	TMEM237	ORPHA:220497
HP:0001249	Intellectual disability	65062	TMEM237	ORPHA:2318
HP:0001249	Intellectual disability	65062	TMEM237	ORPHA:475
HP:0001249	Intellectual disability	27245	AHDC1	ORPHA:412069
HP:0001249	Intellectual disability	27245	AHDC1	OMIM:615829
HP:0001249	Intellectual disability	478	ATP1A3	OMIM:619606
HP:0001249	Intellectual disability	478	ATP1A3	ORPHA:442835
HP:0001249	Intellectual disability	478	ATP1A3	ORPHA:2131
HP:0001249	Intellectual disability	478	ATP1A3	OMIM:614820
HP:0001249	Intellectual disability	2137	EXTL3	OMIM:617425
HP:0001249	Intellectual disability	2137	EXTL3	ORPHA:508533
HP:0001249	Intellectual disability	54806	AHI1	ORPHA:220493
HP:0001249	Intellectual disability	54806	AHI1	ORPHA:475
HP:0001249	Intellectual disability	54806	AHI1	OMIM:608629
HP:0001249	Intellectual disability	56623	INPP5E	ORPHA:220493
HP:0001249	Intellectual disability	56623	INPP5E	OMIM:213300
HP:0001249	Intellectual disability	56623	INPP5E	ORPHA:475
HP:0001249	Intellectual disability	153241	CEP120	ORPHA:220493
HP:0001249	Intellectual disability	153241	CEP120	ORPHA:475
HP:0001249	Intellectual disability	54903	MKS1	ORPHA:220493
HP:0001249	Intellectual disability	54903	MKS1	OMIM:615990
HP:0001249	Intellectual disability	54903	MKS1	ORPHA:110
HP:0001249	Intellectual disability	54903	MKS1	ORPHA:475
HP:0001249	Intellectual disability	54903	MKS1	OMIM:617121
HP:0001249	Intellectual disability	95681	CEP41	ORPHA:220493
HP:0001249	Intellectual disability	95681	CEP41	ORPHA:475
HP:0001249	Intellectual disability	95681	CEP41	OMIM:614464
HP:0001249	Intellectual disability	55768	NGLY1	ORPHA:404454
HP:0001249	Intellectual disability	55768	NGLY1	OMIM:615273
HP:0001249	Intellectual disability	1161	ERCC8	OMIM:216400
HP:0001249	Intellectual disability	1161	ERCC8	ORPHA:90321
HP:0001249	Intellectual disability	1161	ERCC8	ORPHA:90322
HP:0001249	Intellectual disability	57589	RIC1	OMIM:618761
HP:0001249	Intellectual disability	3190	HNRNPK	OMIM:616580
HP:0001249	Intellectual disability	317662	FAM149B1	OMIM:618763
HP:0001249	Intellectual disability	317662	FAM149B1	ORPHA:2754
HP:0001249	Intellectual disability	5832	ALDH18A1	OMIM:616586
HP:0001249	Intellectual disability	5832	ALDH18A1	ORPHA:35664
HP:0001249	Intellectual disability	5832	ALDH18A1	OMIM:219150
HP:0001249	Intellectual disability	6844	VAMP2	OMIM:618760
HP:0001249	Intellectual disability	79029	AFG2B	OMIM:619616
HP:0001249	Intellectual disability	79029	AFG2B	OMIM:619615
HP:0001249	Intellectual disability	2261	FGFR3	OMIM:146000
HP:0001249	Intellectual disability	2261	FGFR3	OMIM:616482
HP:0001249	Intellectual disability	2261	FGFR3	ORPHA:35099
HP:0001249	Intellectual disability	2261	FGFR3	ORPHA:429
HP:0001249	Intellectual disability	2261	FGFR3	OMIM:602849
HP:0001249	Intellectual disability	2261	FGFR3	OMIM:610474
HP:0001249	Intellectual disability	10111	RAD50	OMIM:613078
HP:0001249	Intellectual disability	54880	BCOR	ORPHA:2712
HP:0001249	Intellectual disability	54880	BCOR	ORPHA:568
HP:0001249	Intellectual disability	54880	BCOR	OMIM:309800
HP:0001249	Intellectual disability	7436	VLDLR	OMIM:224050
HP:0001249	Intellectual disability	7436	VLDLR	ORPHA:1766
HP:0001249	Intellectual disability	5191	PEX7	OMIM:215100
HP:0001249	Intellectual disability	5191	PEX7	OMIM:614879
HP:0001249	Intellectual disability	8659	ALDH4A1	OMIM:239510
HP:0001249	Intellectual disability	8659	ALDH4A1	ORPHA:79101
HP:0001249	Intellectual disability	2697	GJA1	ORPHA:2710
HP:0001249	Intellectual disability	2697	GJA1	ORPHA:317
HP:0001249	Intellectual disability	2697	GJA1	OMIM:164200
HP:0001249	Intellectual disability	2697	GJA1	OMIM:218400
HP:0001249	Intellectual disability	4313	MMP2	ORPHA:371428
HP:0001249	Intellectual disability	4323	MMP14	ORPHA:371428
HP:0001249	Intellectual disability	59341	TRPV4	OMIM:113500
HP:0001249	Intellectual disability	59341	TRPV4	OMIM:168400
HP:0001249	Intellectual disability	59341	TRPV4	OMIM:184095
HP:0001249	Intellectual disability	9401	RECQL4	OMIM:218600
HP:0001249	Intellectual disability	9401	RECQL4	OMIM:268400
HP:0001249	Intellectual disability	9401	RECQL4	ORPHA:221016
HP:0001249	Intellectual disability	5159	PDGFRB	OMIM:616592
HP:0001249	Intellectual disability	4330	MN1	OMIM:618774
HP:0001249	Intellectual disability	9997	SCO2	OMIM:608908
HP:0001249	Intellectual disability	5833	PCYT2	OMIM:618770
HP:0001249	Intellectual disability	1280	COL2A1	ORPHA:90653
HP:0001249	Intellectual disability	1280	COL2A1	OMIM:184250
HP:0001249	Intellectual disability	1280	COL2A1	ORPHA:85198
HP:0001249	Intellectual disability	8036	SHOC2	ORPHA:2701
HP:0001249	Intellectual disability	8036	SHOC2	OMIM:607721
HP:0001249	Intellectual disability	5500	PPP1CB	ORPHA:2701
HP:0001249	Intellectual disability	3340	NDST1	OMIM:616116
HP:0001249	Intellectual disability	51761	ATP8A2	OMIM:615268
HP:0001249	Intellectual disability	51761	ATP8A2	ORPHA:1766
HP:0001249	Intellectual disability	89910	UBE3B	ORPHA:2707
HP:0001249	Intellectual disability	6602	SMARCD1	OMIM:618779
HP:0001249	Intellectual disability	54	ACP5	ORPHA:1855
HP:0001249	Intellectual disability	2316	FLNA	ORPHA:90652
HP:0001249	Intellectual disability	2316	FLNA	ORPHA:1826
HP:0001249	Intellectual disability	2316	FLNA	OMIM:305620
HP:0001249	Intellectual disability	2316	FLNA	OMIM:304120
HP:0001249	Intellectual disability	1499	CTNNB1	ORPHA:54595
HP:0001249	Intellectual disability	1499	CTNNB1	ORPHA:404473
HP:0001249	Intellectual disability	1499	CTNNB1	OMIM:615075
HP:0001249	Intellectual disability	673	BRAF	ORPHA:54595
HP:0001249	Intellectual disability	673	BRAF	OMIM:613707
HP:0001249	Intellectual disability	673	BRAF	OMIM:613706
HP:0001249	Intellectual disability	673	BRAF	OMIM:115150
HP:0001249	Intellectual disability	673	BRAF	ORPHA:1340
HP:0001249	Intellectual disability	673	BRAF	OMIM:163950
HP:0001249	Intellectual disability	55131	RBM28	ORPHA:157954
HP:0001249	Intellectual disability	55131	RBM28	OMIM:612079
HP:0001249	Intellectual disability	9131	AIFM1	ORPHA:101078
HP:0001249	Intellectual disability	9131	AIFM1	ORPHA:83629
HP:0001249	Intellectual disability	9131	AIFM1	OMIM:300614
HP:0001249	Intellectual disability	9131	AIFM1	OMIM:310490
HP:0001249	Intellectual disability	1187	CLCNKA	OMIM:613090
HP:0001249	Intellectual disability	1188	CLCNKB	OMIM:613090
HP:0001249	Intellectual disability	5476	CTSA	ORPHA:351
HP:0001249	Intellectual disability	5476	CTSA	OMIM:256540
HP:0001249	Intellectual disability	8493	PPM1D	OMIM:617450
HP:0001249	Intellectual disability	23512	SUZ12	OMIM:618786
HP:0001249	Intellectual disability	23512	SUZ12	ORPHA:3447
HP:0001249	Intellectual disability	6905	TBCE	OMIM:241410
HP:0001249	Intellectual disability	6905	TBCE	ORPHA:2323
HP:0001249	Intellectual disability	6905	TBCE	OMIM:617207
HP:0001249	Intellectual disability	6905	TBCE	ORPHA:496756
HP:0001249	Intellectual disability	55280	CWF19L1	OMIM:616127
HP:0001249	Intellectual disability	5604	MAP2K1	OMIM:615279
HP:0001249	Intellectual disability	5604	MAP2K1	ORPHA:1340
HP:0001249	Intellectual disability	5604	MAP2K1	OMIM:163950
HP:0001249	Intellectual disability	9289	ADGRG1	ORPHA:101070
HP:0001249	Intellectual disability	9289	ADGRG1	OMIM:606854
HP:0001249	Intellectual disability	9289	ADGRG1	ORPHA:98889
HP:0001249	Intellectual disability	9289	ADGRG1	OMIM:615752
HP:0001249	Intellectual disability	5728	PTEN	ORPHA:101070
HP:0001249	Intellectual disability	5728	PTEN	OMIM:605309
HP:0001249	Intellectual disability	5728	PTEN	ORPHA:210548
HP:0001249	Intellectual disability	5728	PTEN	ORPHA:201
HP:0001249	Intellectual disability	5728	PTEN	ORPHA:79076
HP:0001249	Intellectual disability	5728	PTEN	OMIM:158350
HP:0001249	Intellectual disability	5728	PTEN	ORPHA:2969
HP:0001249	Intellectual disability	5728	PTEN	ORPHA:109
HP:0001249	Intellectual disability	2203	FBP1	ORPHA:348
HP:0001249	Intellectual disability	1311	COMP	OMIM:177170
HP:0001249	Intellectual disability	79718	TBL1XR1	OMIM:602342
HP:0001249	Intellectual disability	79718	TBL1XR1	OMIM:616944
HP:0001249	Intellectual disability	79718	TBL1XR1	ORPHA:487825
HP:0001249	Intellectual disability	3766	KCNJ10	ORPHA:199343
HP:0001249	Intellectual disability	3766	KCNJ10	OMIM:274600
HP:0001249	Intellectual disability	3766	KCNJ10	ORPHA:705
HP:0001249	Intellectual disability	3766	KCNJ10	OMIM:612780
HP:0001249	Intellectual disability	6305	SBF1	OMIM:615284
HP:0001249	Intellectual disability	113179	ADAT3	OMIM:615286
HP:0001249	Intellectual disability	113179	ADAT3	ORPHA:363528
HP:0001249	Intellectual disability	1742	DLG4	OMIM:618793
HP:0001249	Intellectual disability	2904	GRIN2B	OMIM:616139
HP:0001249	Intellectual disability	2904	GRIN2B	OMIM:613970
HP:0001249	Intellectual disability	200424	TET3	OMIM:618798
HP:0001249	Intellectual disability	79971	WLS	OMIM:619648
HP:0001249	Intellectual disability	9711	RUBCN	ORPHA:404499
HP:0001249	Intellectual disability	9711	RUBCN	OMIM:615705
HP:0001249	Intellectual disability	56652	TWNK	OMIM:271245
HP:0001249	Intellectual disability	57688	ZSWIM6	OMIM:603671
HP:0001249	Intellectual disability	57688	ZSWIM6	ORPHA:1827
HP:0001249	Intellectual disability	57688	ZSWIM6	OMIM:617865
HP:0001249	Intellectual disability	51567	TDP2	ORPHA:404493
HP:0001249	Intellectual disability	51567	TDP2	OMIM:616949
HP:0001249	Intellectual disability	90	ACVR1	ORPHA:337
HP:0001249	Intellectual disability	57609	DIP2B	OMIM:136630
HP:0001249	Intellectual disability	6654	SOS1	OMIM:135300
HP:0001249	Intellectual disability	6654	SOS1	OMIM:610733
HP:0001249	Intellectual disability	6654	SOS1	ORPHA:648
HP:0001249	Intellectual disability	5727	PTCH1	ORPHA:377
HP:0001249	Intellectual disability	5727	PTCH1	OMIM:109400
HP:0001249	Intellectual disability	5727	PTCH1	ORPHA:280195
HP:0001249	Intellectual disability	5727	PTCH1	ORPHA:220386
HP:0001249	Intellectual disability	5727	PTCH1	ORPHA:280200
HP:0001249	Intellectual disability	5727	PTCH1	ORPHA:77301
HP:0001249	Intellectual disability	5727	PTCH1	ORPHA:93926
HP:0001249	Intellectual disability	5727	PTCH1	ORPHA:93924
HP:0001249	Intellectual disability	5727	PTCH1	ORPHA:93925
HP:0001249	Intellectual disability	8643	PTCH2	ORPHA:377
HP:0001249	Intellectual disability	51684	SUFU	ORPHA:377
HP:0001249	Intellectual disability	51684	SUFU	ORPHA:280200
HP:0001249	Intellectual disability	51684	SUFU	ORPHA:475
HP:0001249	Intellectual disability	23299	BICD2	OMIM:615290
HP:0001249	Intellectual disability	775	CACNA1C	OMIM:601005
HP:0001249	Intellectual disability	775	CACNA1C	OMIM:620029
HP:0001249	Intellectual disability	775	CACNA1C	OMIM:618447
HP:0001249	Intellectual disability	2239	GPC4	ORPHA:373
HP:0001249	Intellectual disability	2239	GPC4	OMIM:301026
HP:0001249	Intellectual disability	2719	GPC3	ORPHA:373
HP:0001249	Intellectual disability	84168	ANTXR1	OMIM:230740
HP:0001249	Intellectual disability	6240	RRM1	OMIM:620647
HP:0001249	Intellectual disability	25836	NIPBL	OMIM:122470
HP:0001249	Intellectual disability	25836	NIPBL	ORPHA:199
HP:0001249	Intellectual disability	6885	MAP3K7	ORPHA:1826
HP:0001249	Intellectual disability	100151683	RNU4ATAC	ORPHA:1824
HP:0001249	Intellectual disability	100151683	RNU4ATAC	OMIM:210710
HP:0001249	Intellectual disability	100151683	RNU4ATAC	ORPHA:2636
HP:0001249	Intellectual disability	2778	GNAS	ORPHA:79443
HP:0001249	Intellectual disability	2778	GNAS	ORPHA:79444
HP:0001249	Intellectual disability	2778	GNAS	ORPHA:79445
HP:0001249	Intellectual disability	2778	GNAS	OMIM:612463
HP:0001249	Intellectual disability	2778	GNAS	OMIM:612462
HP:0001249	Intellectual disability	2778	GNAS	OMIM:103580
HP:0001249	Intellectual disability	84100	ARL6	OMIM:600151
HP:0001249	Intellectual disability	84100	ARL6	OMIM:209900
HP:0001249	Intellectual disability	84100	ARL6	ORPHA:110
HP:0001249	Intellectual disability	79648	MCPH1	OMIM:251200
HP:0001249	Intellectual disability	56246	MRAP	ORPHA:361
HP:0001249	Intellectual disability	6770	STAR	ORPHA:361
HP:0001249	Intellectual disability	4158	MC2R	ORPHA:361
HP:0001249	Intellectual disability	23530	NNT	ORPHA:361
HP:0001249	Intellectual disability	10587	TXNRD2	ORPHA:361
HP:0001249	Intellectual disability	5649	RELN	ORPHA:101046
HP:0001249	Intellectual disability	5649	RELN	ORPHA:89844
HP:0001249	Intellectual disability	9211	LGI1	ORPHA:101046
HP:0001249	Intellectual disability	9681	DEPDC5	ORPHA:101046
HP:0001249	Intellectual disability	9681	DEPDC5	OMIM:604364
HP:0001249	Intellectual disability	9681	DEPDC5	ORPHA:98820
HP:0001249	Intellectual disability	1387	CREBBP	OMIM:618332
HP:0001249	Intellectual disability	1387	CREBBP	ORPHA:353281
HP:0001249	Intellectual disability	1387	CREBBP	ORPHA:353277
HP:0001249	Intellectual disability	1387	CREBBP	OMIM:180849
HP:0001249	Intellectual disability	1387	CREBBP	ORPHA:592574
HP:0001249	Intellectual disability	2033	EP300	OMIM:618333
HP:0001249	Intellectual disability	2033	EP300	ORPHA:353284
HP:0001249	Intellectual disability	2033	EP300	OMIM:613684
HP:0001249	Intellectual disability	2033	EP300	OMIM:180849
HP:0001249	Intellectual disability	1523	CUX1	OMIM:618330
HP:0001249	Intellectual disability	3000	GUCY2D	OMIM:204000
HP:0001249	Intellectual disability	3000	GUCY2D	ORPHA:65
HP:0001249	Intellectual disability	5813	PURA	OMIM:616158
HP:0001249	Intellectual disability	5910	RAP1GDS1	OMIM:620655
HP:0001249	Intellectual disability	835	CASP2	OMIM:620653
HP:0001249	Intellectual disability	435	ASL	ORPHA:23
HP:0001249	Intellectual disability	435	ASL	OMIM:207900
HP:0001249	Intellectual disability	3480	IGF1R	ORPHA:73273
HP:0001249	Intellectual disability	3480	IGF1R	OMIM:270450
HP:0001249	Intellectual disability	3479	IGF1	ORPHA:73272
HP:0001249	Intellectual disability	3479	IGF1	OMIM:608747
HP:0001249	Intellectual disability	2074	ERCC6	OMIM:133540
HP:0001249	Intellectual disability	2074	ERCC6	ORPHA:90321
HP:0001249	Intellectual disability	2074	ERCC6	ORPHA:90322
HP:0001249	Intellectual disability	2074	ERCC6	OMIM:278800
HP:0001249	Intellectual disability	57526	PCDH19	ORPHA:101039
HP:0001249	Intellectual disability	57526	PCDH19	OMIM:300088
HP:0001249	Intellectual disability	7915	ALDH5A1	ORPHA:22
HP:0001249	Intellectual disability	7915	ALDH5A1	OMIM:271980
HP:0001249	Intellectual disability	6448	SGSH	OMIM:252900
HP:0001249	Intellectual disability	8925	HERC1	OMIM:617011
HP:0001249	Intellectual disability	4598	MVK	ORPHA:29
HP:0001249	Intellectual disability	23516	SLC39A14	OMIM:617013
HP:0001249	Intellectual disability	23516	SLC39A14	ORPHA:521406
HP:0001249	Intellectual disability	54517	PUS7	OMIM:618342
HP:0001249	Intellectual disability	10564	ARFGEF2	OMIM:608097
HP:0001249	Intellectual disability	10785	WDR4	OMIM:618347
HP:0001249	Intellectual disability	1798	DPAGT1	OMIM:608093
HP:0001249	Intellectual disability	57122	NUP107	OMIM:618348
HP:0001249	Intellectual disability	51259	TMEM216	OMIM:608091
HP:0001249	Intellectual disability	51259	TMEM216	ORPHA:2318
HP:0001249	Intellectual disability	51259	TMEM216	ORPHA:2754
HP:0001249	Intellectual disability	114327	EFHC1	ORPHA:307
HP:0001249	Intellectual disability	114327	EFHC1	OMIM:254770
HP:0001249	Intellectual disability	2563	GABRD	ORPHA:307
HP:0001249	Intellectual disability	2563	GABRD	ORPHA:1606
HP:0001249	Intellectual disability	1181	CLCN2	ORPHA:307
HP:0001249	Intellectual disability	2554	GABRA1	ORPHA:307
HP:0001249	Intellectual disability	2554	GABRA1	ORPHA:64280
HP:0001249	Intellectual disability	2554	GABRA1	OMIM:615744
HP:0001249	Intellectual disability	3786	KCNQ3	ORPHA:307
HP:0001249	Intellectual disability	3786	KCNQ3	OMIM:121201
HP:0001249	Intellectual disability	22858	CILK1	ORPHA:307
HP:0001249	Intellectual disability	8629	JRK	ORPHA:307
HP:0001249	Intellectual disability	8629	JRK	ORPHA:64280
HP:0001249	Intellectual disability	785	CACNB4	ORPHA:307
HP:0001249	Intellectual disability	785	CACNB4	OMIM:607682
HP:0001249	Intellectual disability	90459	ERI1	OMIM:620663
HP:0001249	Intellectual disability	90459	ERI1	OMIM:620662
HP:0001249	Intellectual disability	144165	PRICKLE1	ORPHA:308
HP:0001249	Intellectual disability	1476	CSTB	ORPHA:308
HP:0001249	Intellectual disability	950	SCARB2	ORPHA:308
HP:0001249	Intellectual disability	7038	TG	OMIM:274700
HP:0001249	Intellectual disability	7038	TG	ORPHA:95716
HP:0001249	Intellectual disability	100033413	SNORD116-1	OMIM:176270
HP:0001249	Intellectual disability	8924	HERC2	OMIM:176270
HP:0001249	Intellectual disability	8924	HERC2	OMIM:615516
HP:0001249	Intellectual disability	23742	NPAP1	OMIM:176270
HP:0001249	Intellectual disability	338433	SNORD115-1	OMIM:176270
HP:0001249	Intellectual disability	54551	MAGEL2	OMIM:176270
HP:0001249	Intellectual disability	54551	MAGEL2	ORPHA:398069
HP:0001249	Intellectual disability	54551	MAGEL2	OMIM:615547
HP:0001249	Intellectual disability	7681	MKRN3	OMIM:176270
HP:0001249	Intellectual disability	145624	PWAR1	OMIM:176270
HP:0001249	Intellectual disability	3653	IPW	OMIM:176270
HP:0001249	Intellectual disability	791114	PWRN1	OMIM:176270
HP:0001249	Intellectual disability	5095	PCCA	ORPHA:35
HP:0001249	Intellectual disability	5096	PCCB	ORPHA:35
HP:0001249	Intellectual disability	27125	AFF4	ORPHA:444077
HP:0001249	Intellectual disability	27125	AFF4	OMIM:616368
HP:0001249	Intellectual disability	10733	PLK4	OMIM:616171
HP:0001249	Intellectual disability	10733	PLK4	ORPHA:808
HP:0001249	Intellectual disability	10733	PLK4	ORPHA:2518
HP:0001249	Intellectual disability	3712	IVD	ORPHA:33
HP:0001249	Intellectual disability	57104	PNPLA2	ORPHA:565612
HP:0001249	Intellectual disability	5610	EIF2AK2	OMIM:619687
HP:0001249	Intellectual disability	55182	RNF220	OMIM:619688
HP:0001249	Intellectual disability	116461	TSEN15	OMIM:617026
HP:0001249	Intellectual disability	55262	TRAPPC14	OMIM:618351
HP:0001249	Intellectual disability	23043	TNIK	OMIM:617028
HP:0001249	Intellectual disability	6492	SIM1	ORPHA:398079
HP:0001249	Intellectual disability	25885	POLR1A	OMIM:620675
HP:0001249	Intellectual disability	25885	POLR1A	OMIM:616462
HP:0001249	Intellectual disability	51114	ZDHHC9	ORPHA:776
HP:0001249	Intellectual disability	51114	ZDHHC9	OMIM:300799
HP:0001249	Intellectual disability	65109	UPF3B	ORPHA:776
HP:0001249	Intellectual disability	65109	UPF3B	OMIM:300676
HP:0001249	Intellectual disability	9968	MED12	ORPHA:776
HP:0001249	Intellectual disability	9968	MED12	OMIM:309520
HP:0001249	Intellectual disability	9968	MED12	OMIM:300895
HP:0001249	Intellectual disability	9968	MED12	ORPHA:293707
HP:0001249	Intellectual disability	9968	MED12	OMIM:305450
HP:0001249	Intellectual disability	3767	KCNJ11	ORPHA:99885
HP:0001249	Intellectual disability	3767	KCNJ11	ORPHA:79644
HP:0001249	Intellectual disability	6774	STAT3	ORPHA:99885
HP:0001249	Intellectual disability	2645	GCK	ORPHA:99885
HP:0001249	Intellectual disability	2645	GCK	OMIM:602485
HP:0001249	Intellectual disability	3651	PDX1	ORPHA:99885
HP:0001249	Intellectual disability	6833	ABCC8	ORPHA:99885
HP:0001249	Intellectual disability	6833	ABCC8	OMIM:256450
HP:0001249	Intellectual disability	6833	ABCC8	OMIM:240800
HP:0001249	Intellectual disability	3630	INS	ORPHA:99885
HP:0001249	Intellectual disability	154881	KCTD7	OMIM:611726
HP:0001249	Intellectual disability	154881	KCTD7	ORPHA:263516
HP:0001249	Intellectual disability	29925	GMPPB	ORPHA:370968
HP:0001249	Intellectual disability	29925	GMPPB	ORPHA:363623
HP:0001249	Intellectual disability	29925	GMPPB	OMIM:615350
HP:0001249	Intellectual disability	29925	GMPPB	OMIM:615351
HP:0001249	Intellectual disability	79147	FKRP	ORPHA:370968
HP:0001249	Intellectual disability	79147	FKRP	ORPHA:370980
HP:0001249	Intellectual disability	79147	FKRP	OMIM:606612
HP:0001249	Intellectual disability	79147	FKRP	ORPHA:899
HP:0001249	Intellectual disability	29954	POMT2	ORPHA:370968
HP:0001249	Intellectual disability	29954	POMT2	ORPHA:899
HP:0001249	Intellectual disability	9215	LARGE1	ORPHA:370968
HP:0001249	Intellectual disability	9215	LARGE1	ORPHA:899
HP:0001249	Intellectual disability	9215	LARGE1	OMIM:613154
HP:0001249	Intellectual disability	10585	POMT1	ORPHA:370968
HP:0001249	Intellectual disability	10585	POMT1	ORPHA:370980
HP:0001249	Intellectual disability	10585	POMT1	OMIM:609308
HP:0001249	Intellectual disability	10585	POMT1	ORPHA:899
HP:0001249	Intellectual disability	10585	POMT1	ORPHA:86812
HP:0001249	Intellectual disability	427	ASAH1	ORPHA:333
HP:0001249	Intellectual disability	427	ASAH1	ORPHA:2590
HP:0001249	Intellectual disability	427	ASAH1	OMIM:228000
HP:0001249	Intellectual disability	57190	SELENON	OMIM:602771
HP:0001249	Intellectual disability	473	RERE	ORPHA:494344
HP:0001249	Intellectual disability	473	RERE	ORPHA:1606
HP:0001249	Intellectual disability	55777	MBD5	OMIM:156200
HP:0001249	Intellectual disability	22930	RAB3GAP1	OMIM:600118
HP:0001249	Intellectual disability	22930	RAB3GAP1	ORPHA:1387
HP:0001249	Intellectual disability	2334	AFF2	OMIM:309548
HP:0001249	Intellectual disability	2334	AFF2	ORPHA:100973
HP:0001249	Intellectual disability	4141	MARS1	OMIM:619692
HP:0001249	Intellectual disability	24140	FTSJ1	OMIM:309549
HP:0001249	Intellectual disability	6601	SMARCC2	OMIM:618362
HP:0001249	Intellectual disability	7468	NSD2	OMIM:619695
HP:0001249	Intellectual disability	6334	SCN8A	OMIM:618364
HP:0001249	Intellectual disability	6334	SCN8A	OMIM:614306
HP:0001249	Intellectual disability	6334	SCN8A	ORPHA:442835
HP:0001249	Intellectual disability	6334	SCN8A	OMIM:614558
HP:0001249	Intellectual disability	3054	HCFC1	OMIM:309541
HP:0001249	Intellectual disability	11145	PLAAT3	OMIM:620683
HP:0001249	Intellectual disability	2632	GBE1	ORPHA:206583
HP:0001249	Intellectual disability	5805	PTS	ORPHA:13
HP:0001249	Intellectual disability	2583	B4GALNT1	ORPHA:101006
HP:0001249	Intellectual disability	7703	PCGF2	OMIM:618371
HP:0001249	Intellectual disability	56776	FMN2	OMIM:616193
HP:0001249	Intellectual disability	2743	GLRB	ORPHA:3197
HP:0001249	Intellectual disability	2743	GLRB	OMIM:614619
HP:0001249	Intellectual disability	2741	GLRA1	ORPHA:3197
HP:0001249	Intellectual disability	10243	GPHN	ORPHA:3197
HP:0001249	Intellectual disability	84896	ATAD1	ORPHA:3197
HP:0001249	Intellectual disability	9152	SLC6A5	ORPHA:3197
HP:0001249	Intellectual disability	27316	RBMX	OMIM:309555
HP:0001249	Intellectual disability	7086	TKT	OMIM:617044
HP:0001249	Intellectual disability	8802	SUCLG1	ORPHA:17
HP:0001249	Intellectual disability	4613	MYCN	OMIM:164280
HP:0001249	Intellectual disability	4613	MYCN	ORPHA:391641
HP:0001249	Intellectual disability	4613	MYCN	OMIM:620748
HP:0001249	Intellectual disability	6304	SATB1	OMIM:619228
HP:0001249	Intellectual disability	6304	SATB1	OMIM:619229
HP:0001249	Intellectual disability	2218	FKTN	ORPHA:370980
HP:0001249	Intellectual disability	2218	FKTN	OMIM:253800
HP:0001249	Intellectual disability	2218	FKTN	ORPHA:899
HP:0001249	Intellectual disability	729920	CRPPA	ORPHA:370980
HP:0001249	Intellectual disability	729920	CRPPA	ORPHA:899
HP:0001249	Intellectual disability	2707	GJB3	ORPHA:317
HP:0001249	Intellectual disability	2531	KDSR	ORPHA:317
HP:0001249	Intellectual disability	127534	GJB4	ORPHA:317
HP:0001249	Intellectual disability	220296	HEPACAM	OMIM:613925
HP:0001249	Intellectual disability	220296	HEPACAM	OMIM:613926
HP:0001249	Intellectual disability	220296	HEPACAM	ORPHA:210548
HP:0001249	Intellectual disability	4763	NF1	ORPHA:97685
HP:0001249	Intellectual disability	4763	NF1	OMIM:601321
HP:0001249	Intellectual disability	4763	NF1	ORPHA:139474
HP:0001249	Intellectual disability	4763	NF1	ORPHA:363700
HP:0001249	Intellectual disability	50801	KCNK4	OMIM:618381
HP:0001249	Intellectual disability	9757	KMT2B	ORPHA:589618
HP:0001249	Intellectual disability	9757	KMT2B	OMIM:619934
HP:0001249	Intellectual disability	55975	KLHL7	OMIM:617055
HP:0001249	Intellectual disability	80036	TRPM3	OMIM:620224
HP:0001249	Intellectual disability	63895	PIEZO2	OMIM:108145
HP:0001249	Intellectual disability	63895	PIEZO2	OMIM:248700
HP:0001249	Intellectual disability	63895	PIEZO2	ORPHA:2461
HP:0001249	Intellectual disability	5184	PEPD	ORPHA:742
HP:0001249	Intellectual disability	10283	CWC27	ORPHA:166035
HP:0001249	Intellectual disability	10283	CWC27	OMIM:250410
HP:0001249	Intellectual disability	207	AKT1	ORPHA:744
HP:0001249	Intellectual disability	207	AKT1	ORPHA:201
HP:0001249	Intellectual disability	207	AKT1	OMIM:615109
HP:0001249	Intellectual disability	9829	DNAJC6	ORPHA:391411
HP:0001249	Intellectual disability	9829	DNAJC6	OMIM:615528
HP:0001249	Intellectual disability	5420	PODXL	ORPHA:391411
HP:0001249	Intellectual disability	8867	SYNJ1	ORPHA:391411
HP:0001249	Intellectual disability	8867	SYNJ1	ORPHA:442835
HP:0001249	Intellectual disability	51360	MBTPS2	OMIM:308205
HP:0001249	Intellectual disability	51360	MBTPS2	ORPHA:2273
HP:0001249	Intellectual disability	1457	CSNK2A1	OMIM:617062
HP:0001249	Intellectual disability	7204	TRIO	OMIM:617061
HP:0001249	Intellectual disability	7204	TRIO	OMIM:618825
HP:0001249	Intellectual disability	170302	ARX	ORPHA:3175
HP:0001249	Intellectual disability	170302	ARX	OMIM:309510
HP:0001249	Intellectual disability	170302	ARX	ORPHA:1934
HP:0001249	Intellectual disability	170302	ARX	OMIM:308350
HP:0001249	Intellectual disability	170302	ARX	OMIM:300419
HP:0001249	Intellectual disability	170302	ARX	ORPHA:94083
HP:0001249	Intellectual disability	170302	ARX	ORPHA:452
HP:0001249	Intellectual disability	203068	TUBB	OMIM:156610
HP:0001249	Intellectual disability	203068	TUBB	ORPHA:2505
HP:0001249	Intellectual disability	23112	TNRC6B	OMIM:619243
HP:0001249	Intellectual disability	91875	TTC5	OMIM:619244
HP:0001249	Intellectual disability	28514	DLL1	ORPHA:280195
HP:0001249	Intellectual disability	28514	DLL1	OMIM:618709
HP:0001249	Intellectual disability	28514	DLL1	ORPHA:220386
HP:0001249	Intellectual disability	28514	DLL1	ORPHA:280200
HP:0001249	Intellectual disability	28514	DLL1	ORPHA:93926
HP:0001249	Intellectual disability	28514	DLL1	ORPHA:93924
HP:0001249	Intellectual disability	28514	DLL1	ORPHA:93925
HP:0001249	Intellectual disability	2253	FGF8	ORPHA:280195
HP:0001249	Intellectual disability	2253	FGF8	ORPHA:220386
HP:0001249	Intellectual disability	2253	FGF8	ORPHA:280200
HP:0001249	Intellectual disability	2253	FGF8	ORPHA:93926
HP:0001249	Intellectual disability	2253	FGF8	ORPHA:93924
HP:0001249	Intellectual disability	2253	FGF8	ORPHA:93925
HP:0001249	Intellectual disability	6496	SIX3	ORPHA:280195
HP:0001249	Intellectual disability	6496	SIX3	ORPHA:220386
HP:0001249	Intellectual disability	6496	SIX3	OMIM:157170
HP:0001249	Intellectual disability	6496	SIX3	ORPHA:280200
HP:0001249	Intellectual disability	6496	SIX3	ORPHA:93926
HP:0001249	Intellectual disability	6496	SIX3	ORPHA:93924
HP:0001249	Intellectual disability	6496	SIX3	ORPHA:93925
HP:0001249	Intellectual disability	7050	TGIF1	ORPHA:280195
HP:0001249	Intellectual disability	7050	TGIF1	ORPHA:220386
HP:0001249	Intellectual disability	7050	TGIF1	ORPHA:280200
HP:0001249	Intellectual disability	7050	TGIF1	ORPHA:93926
HP:0001249	Intellectual disability	7050	TGIF1	ORPHA:93924
HP:0001249	Intellectual disability	7050	TGIF1	ORPHA:93925
HP:0001249	Intellectual disability	4838	NODAL	ORPHA:280195
HP:0001249	Intellectual disability	4838	NODAL	ORPHA:220386
HP:0001249	Intellectual disability	4838	NODAL	ORPHA:280200
HP:0001249	Intellectual disability	4838	NODAL	ORPHA:93926
HP:0001249	Intellectual disability	4838	NODAL	ORPHA:93924
HP:0001249	Intellectual disability	4838	NODAL	ORPHA:93925
HP:0001249	Intellectual disability	6469	SHH	ORPHA:280195
HP:0001249	Intellectual disability	6469	SHH	OMIM:142945
HP:0001249	Intellectual disability	6469	SHH	ORPHA:220386
HP:0001249	Intellectual disability	6469	SHH	ORPHA:280200
HP:0001249	Intellectual disability	6469	SHH	ORPHA:93926
HP:0001249	Intellectual disability	6469	SHH	ORPHA:93924
HP:0001249	Intellectual disability	6469	SHH	ORPHA:93925
HP:0001249	Intellectual disability	7546	ZIC2	ORPHA:280195
HP:0001249	Intellectual disability	7546	ZIC2	ORPHA:220386
HP:0001249	Intellectual disability	7546	ZIC2	ORPHA:280200
HP:0001249	Intellectual disability	7546	ZIC2	ORPHA:93926
HP:0001249	Intellectual disability	7546	ZIC2	ORPHA:93924
HP:0001249	Intellectual disability	7546	ZIC2	ORPHA:93925
HP:0001249	Intellectual disability	7546	ZIC2	OMIM:609637
HP:0001249	Intellectual disability	6491	STIL	ORPHA:280195
HP:0001249	Intellectual disability	6491	STIL	ORPHA:220386
HP:0001249	Intellectual disability	6491	STIL	ORPHA:93926
HP:0001249	Intellectual disability	6491	STIL	ORPHA:93924
HP:0001249	Intellectual disability	6491	STIL	ORPHA:93925
HP:0001249	Intellectual disability	6491	STIL	OMIM:612703
HP:0001249	Intellectual disability	2619	GAS1	ORPHA:280195
HP:0001249	Intellectual disability	2619	GAS1	ORPHA:220386
HP:0001249	Intellectual disability	2619	GAS1	ORPHA:280200
HP:0001249	Intellectual disability	2619	GAS1	ORPHA:93926
HP:0001249	Intellectual disability	2619	GAS1	ORPHA:93924
HP:0001249	Intellectual disability	2619	GAS1	ORPHA:93925
HP:0001249	Intellectual disability	84976	DISP1	ORPHA:280195
HP:0001249	Intellectual disability	84976	DISP1	ORPHA:220386
HP:0001249	Intellectual disability	84976	DISP1	ORPHA:280200
HP:0001249	Intellectual disability	84976	DISP1	ORPHA:93926
HP:0001249	Intellectual disability	84976	DISP1	ORPHA:93924
HP:0001249	Intellectual disability	84976	DISP1	ORPHA:93925
HP:0001249	Intellectual disability	2736	GLI2	ORPHA:280195
HP:0001249	Intellectual disability	2736	GLI2	ORPHA:220386
HP:0001249	Intellectual disability	2736	GLI2	ORPHA:280200
HP:0001249	Intellectual disability	2736	GLI2	ORPHA:93926
HP:0001249	Intellectual disability	2736	GLI2	ORPHA:93924
HP:0001249	Intellectual disability	2736	GLI2	ORPHA:93925
HP:0001249	Intellectual disability	8928	FOXH1	ORPHA:280195
HP:0001249	Intellectual disability	8928	FOXH1	ORPHA:220386
HP:0001249	Intellectual disability	8928	FOXH1	ORPHA:280200
HP:0001249	Intellectual disability	8928	FOXH1	ORPHA:93926
HP:0001249	Intellectual disability	8928	FOXH1	ORPHA:93924
HP:0001249	Intellectual disability	8928	FOXH1	ORPHA:93925
HP:0001249	Intellectual disability	6997	CRIPTO	ORPHA:280195
HP:0001249	Intellectual disability	6997	CRIPTO	ORPHA:220386
HP:0001249	Intellectual disability	6997	CRIPTO	ORPHA:280200
HP:0001249	Intellectual disability	6997	CRIPTO	ORPHA:93926
HP:0001249	Intellectual disability	6997	CRIPTO	ORPHA:93924
HP:0001249	Intellectual disability	6997	CRIPTO	ORPHA:93925
HP:0001249	Intellectual disability	50937	CDON	ORPHA:280195
HP:0001249	Intellectual disability	50937	CDON	ORPHA:95496
HP:0001249	Intellectual disability	50937	CDON	ORPHA:220386
HP:0001249	Intellectual disability	50937	CDON	ORPHA:280200
HP:0001249	Intellectual disability	50937	CDON	ORPHA:93926
HP:0001249	Intellectual disability	50937	CDON	ORPHA:93924
HP:0001249	Intellectual disability	50937	CDON	ORPHA:93925
HP:0001249	Intellectual disability	3028	HSD17B10	ORPHA:85295
HP:0001249	Intellectual disability	3028	HSD17B10	OMIM:300438
HP:0001249	Intellectual disability	23096	IQSEC2	OMIM:309530
HP:0001249	Intellectual disability	23096	IQSEC2	ORPHA:819
HP:0001249	Intellectual disability	23096	IQSEC2	ORPHA:217377
HP:0001249	Intellectual disability	5625	PRODH	OMIM:239500
HP:0001249	Intellectual disability	93587	TRMT10A	ORPHA:391408
HP:0001249	Intellectual disability	93587	TRMT10A	OMIM:616033
HP:0001249	Intellectual disability	84919	PPP1R15B	ORPHA:391408
HP:0001249	Intellectual disability	84919	PPP1R15B	OMIM:616817
HP:0001249	Intellectual disability	2799	GNS	OMIM:252940
HP:0001249	Intellectual disability	7169	TPM2	OMIM:108120
HP:0001249	Intellectual disability	201595	STT3B	ORPHA:370924
HP:0001249	Intellectual disability	201595	STT3B	OMIM:615597
HP:0001249	Intellectual disability	6748	SSR4	ORPHA:370927
HP:0001249	Intellectual disability	6748	SSR4	OMIM:300934
HP:0001249	Intellectual disability	10084	PQBP1	OMIM:309500
HP:0001249	Intellectual disability	10084	PQBP1	ORPHA:93946
HP:0001249	Intellectual disability	10084	PQBP1	ORPHA:93947
HP:0001249	Intellectual disability	340533	NEXMIF	ORPHA:85277
HP:0001249	Intellectual disability	340533	NEXMIF	ORPHA:1942
HP:0001249	Intellectual disability	340533	NEXMIF	OMIM:300912
HP:0001249	Intellectual disability	89970	RSPRY1	ORPHA:457395
HP:0001249	Intellectual disability	89970	RSPRY1	OMIM:616723
HP:0001249	Intellectual disability	85358	SHANK3	OMIM:613950
HP:0001249	Intellectual disability	8831	SYNGAP1	OMIM:612621
HP:0001249	Intellectual disability	8831	SYNGAP1	ORPHA:442835
HP:0001249	Intellectual disability	8831	SYNGAP1	ORPHA:1942
HP:0001249	Intellectual disability	8831	SYNGAP1	ORPHA:544254
HP:0001249	Intellectual disability	54187	NANS	OMIM:610442
HP:0001249	Intellectual disability	84466	MEGF10	OMIM:620249
HP:0001249	Intellectual disability	1282	COL4A1	OMIM:611773
HP:0001249	Intellectual disability	1282	COL4A1	OMIM:175780
HP:0001249	Intellectual disability	1282	COL4A1	ORPHA:899
HP:0001249	Intellectual disability	284058	KANSL1	OMIM:610443
HP:0001249	Intellectual disability	3643	INSR	ORPHA:769
HP:0001249	Intellectual disability	3643	INSR	ORPHA:508
HP:0001249	Intellectual disability	138050	HGSNAT	OMIM:252930
HP:0001249	Intellectual disability	7474	WNT5A	OMIM:180700
HP:0001249	Intellectual disability	7474	WNT5A	ORPHA:3107
HP:0001249	Intellectual disability	1855	DVL1	OMIM:180700
HP:0001249	Intellectual disability	1855	DVL1	ORPHA:3107
HP:0001249	Intellectual disability	124093	CCDC78	OMIM:614807
HP:0001249	Intellectual disability	4860	PNP	ORPHA:760
HP:0001249	Intellectual disability	4860	PNP	OMIM:613179
HP:0001249	Intellectual disability	162	AP1B1	ORPHA:171851
HP:0001249	Intellectual disability	162	AP1B1	OMIM:242150
HP:0001249	Intellectual disability	1174	AP1S1	ORPHA:171851
HP:0001249	Intellectual disability	1174	AP1S1	OMIM:609313
HP:0001249	Intellectual disability	1291	COL6A1	OMIM:158810
HP:0001249	Intellectual disability	1291	COL6A1	OMIM:254090
HP:0001249	Intellectual disability	26123	TCTN3	OMIM:614815
HP:0001249	Intellectual disability	26123	TCTN3	ORPHA:2753
HP:0001249	Intellectual disability	26123	TCTN3	ORPHA:2754
HP:0001249	Intellectual disability	26123	TCTN3	ORPHA:475
HP:0001249	Intellectual disability	1373	CPS1	OMIM:237300
HP:0001249	Intellectual disability	5696	PSMB8	OMIM:256040
HP:0001249	Intellectual disability	4669	NAGLU	OMIM:252920
HP:0001249	Intellectual disability	2260	FGFR1	ORPHA:3157
HP:0001249	Intellectual disability	2260	FGFR1	ORPHA:2396
HP:0001249	Intellectual disability	2260	FGFR1	ORPHA:220386
HP:0001249	Intellectual disability	2260	FGFR1	ORPHA:280200
HP:0001249	Intellectual disability	2260	FGFR1	OMIM:190440
HP:0001249	Intellectual disability	2260	FGFR1	ORPHA:93924
HP:0001249	Intellectual disability	2260	FGFR1	OMIM:147950
HP:0001249	Intellectual disability	2260	FGFR1	OMIM:101600
HP:0001249	Intellectual disability	2260	FGFR1	ORPHA:2645
HP:0001249	Intellectual disability	128674	PROKR2	ORPHA:3157
HP:0001249	Intellectual disability	128674	PROKR2	ORPHA:95496
HP:0001249	Intellectual disability	6657	SOX2	ORPHA:3157
HP:0001249	Intellectual disability	6657	SOX2	ORPHA:77298
HP:0001249	Intellectual disability	6658	SOX3	ORPHA:3157
HP:0001249	Intellectual disability	6658	SOX3	ORPHA:67045
HP:0001249	Intellectual disability	9915	ARNT2	ORPHA:3157
HP:0001249	Intellectual disability	8820	HESX1	ORPHA:3157
HP:0001249	Intellectual disability	8820	HESX1	ORPHA:95496
HP:0001249	Intellectual disability	5015	OTX2	ORPHA:3157
HP:0001249	Intellectual disability	283450	HECTD4	OMIM:620250
HP:0001249	Intellectual disability	374654	KIF7	ORPHA:166024
HP:0001249	Intellectual disability	374654	KIF7	ORPHA:2754
HP:0001249	Intellectual disability	374654	KIF7	OMIM:200990
HP:0001249	Intellectual disability	128	ADH5	OMIM:619151
HP:0001249	Intellectual disability	64374	SIL1	OMIM:248800
HP:0001249	Intellectual disability	64374	SIL1	ORPHA:559
HP:0001249	Intellectual disability	8450	CUL4B	OMIM:300354
HP:0001249	Intellectual disability	6535	SLC6A8	OMIM:300352
HP:0001249	Intellectual disability	6535	SLC6A8	ORPHA:52503
HP:0001249	Intellectual disability	26128	KIFBP	OMIM:609460
HP:0001249	Intellectual disability	26128	KIFBP	ORPHA:66629
HP:0001249	Intellectual disability	5631	PRPS1	ORPHA:411543
HP:0001249	Intellectual disability	5631	PRPS1	ORPHA:411536
HP:0001249	Intellectual disability	5631	PRPS1	OMIM:301835
HP:0001249	Intellectual disability	5631	PRPS1	OMIM:300661
HP:0001249	Intellectual disability	1593	CYP27A1	OMIM:213700
HP:0001249	Intellectual disability	1593	CYP27A1	ORPHA:909
HP:0001249	Intellectual disability	7518	XRCC4	ORPHA:99812
HP:0001249	Intellectual disability	3981	LIG4	ORPHA:99812
HP:0001249	Intellectual disability	3981	LIG4	ORPHA:235
HP:0001249	Intellectual disability	55775	TDP1	ORPHA:94124
HP:0001249	Intellectual disability	55775	TDP1	OMIM:607250
HP:0001249	Intellectual disability	80144	FRAS1	OMIM:219000
HP:0001249	Intellectual disability	80144	FRAS1	ORPHA:2052
HP:0001249	Intellectual disability	613	BCR	ORPHA:261330
HP:0001249	Intellectual disability	1399	CRKL	ORPHA:261330
HP:0001249	Intellectual disability	5594	MAPK1	ORPHA:261330
HP:0001249	Intellectual disability	5594	MAPK1	OMIM:619087
HP:0001249	Intellectual disability	9640	ZNF592	ORPHA:83472
HP:0001249	Intellectual disability	84942	WDR73	ORPHA:83472
HP:0001249	Intellectual disability	84942	WDR73	OMIM:251300
HP:0001249	Intellectual disability	224	ALDH3A2	ORPHA:816
HP:0001249	Intellectual disability	224	ALDH3A2	OMIM:270200
HP:0001249	Intellectual disability	2314	FLII	ORPHA:819
HP:0001249	Intellectual disability	10743	RAI1	ORPHA:819
HP:0001249	Intellectual disability	10743	RAI1	OMIM:182290
HP:0001249	Intellectual disability	10522	DEAF1	ORPHA:819
HP:0001249	Intellectual disability	10522	DEAF1	OMIM:615828
HP:0001249	Intellectual disability	10522	DEAF1	ORPHA:468620
HP:0001249	Intellectual disability	10522	DEAF1	OMIM:617171
HP:0001249	Intellectual disability	1717	DHCR7	ORPHA:818
HP:0001249	Intellectual disability	1717	DHCR7	OMIM:270400
HP:0001249	Intellectual disability	5818	NECTIN1	ORPHA:3253
HP:0001249	Intellectual disability	29072	SETD2	OMIM:620157
HP:0001249	Intellectual disability	29072	SETD2	OMIM:620155
HP:0001249	Intellectual disability	29072	SETD2	OMIM:616831
HP:0001249	Intellectual disability	4758	NEU1	ORPHA:812
HP:0001249	Intellectual disability	4758	NEU1	OMIM:256550
HP:0001249	Intellectual disability	150468	CKAP2L	ORPHA:3255
HP:0001249	Intellectual disability	150468	CKAP2L	OMIM:272440
HP:0001249	Intellectual disability	5979	RET	ORPHA:99803
HP:0001249	Intellectual disability	429	ASCL1	ORPHA:99803
HP:0001249	Intellectual disability	8929	PHOX2B	ORPHA:99803
HP:0001249	Intellectual disability	134218	DNAJC21	ORPHA:811
HP:0001249	Intellectual disability	79631	EFL1	ORPHA:811
HP:0001249	Intellectual disability	51119	SBDS	ORPHA:811
HP:0001249	Intellectual disability	2313	FLI1	ORPHA:851
HP:0001249	Intellectual disability	2313	FLI1	ORPHA:2308
HP:0001249	Intellectual disability	2263	FGFR2	ORPHA:87
HP:0001249	Intellectual disability	2263	FGFR2	ORPHA:93260
HP:0001249	Intellectual disability	2263	FGFR2	ORPHA:93259
HP:0001249	Intellectual disability	2263	FGFR2	OMIM:207410
HP:0001249	Intellectual disability	2263	FGFR2	OMIM:101400
HP:0001249	Intellectual disability	2263	FGFR2	OMIM:123500
HP:0001249	Intellectual disability	2263	FGFR2	OMIM:101200
HP:0001249	Intellectual disability	2263	FGFR2	OMIM:101600
HP:0001249	Intellectual disability	2263	FGFR2	OMIM:609579
HP:0001249	Intellectual disability	56992	KIF15	ORPHA:261323
HP:0001249	Intellectual disability	2483	FRG1	OMIM:158900
HP:0001249	Intellectual disability	64324	NSD1	OMIM:117550
HP:0001249	Intellectual disability	64324	NSD1	ORPHA:3447
HP:0001249	Intellectual disability	64324	NSD1	ORPHA:228415
HP:0001249	Intellectual disability	55157	DARS2	ORPHA:137898
HP:0001249	Intellectual disability	1801	DPH1	OMIM:616901
HP:0001249	Intellectual disability	412	STS	ORPHA:281090
HP:0001249	Intellectual disability	412	STS	ORPHA:461
HP:0001249	Intellectual disability	412	STS	OMIM:308100
HP:0001249	Intellectual disability	3845	KRAS	ORPHA:2396
HP:0001249	Intellectual disability	3845	KRAS	ORPHA:648
HP:0001249	Intellectual disability	3845	KRAS	OMIM:163200
HP:0001249	Intellectual disability	3845	KRAS	ORPHA:2612
HP:0001249	Intellectual disability	3845	KRAS	ORPHA:1340
HP:0001249	Intellectual disability	3845	KRAS	OMIM:609942
HP:0001249	Intellectual disability	5080	PAX6	ORPHA:1065
HP:0001249	Intellectual disability	5080	PAX6	OMIM:194072
HP:0001249	Intellectual disability	5080	PAX6	ORPHA:893
HP:0001249	Intellectual disability	3708	ITPR1	ORPHA:1065
HP:0001249	Intellectual disability	3708	ITPR1	OMIM:606658
HP:0001249	Intellectual disability	3708	ITPR1	OMIM:117360
HP:0001249	Intellectual disability	3708	ITPR1	OMIM:206700
HP:0001249	Intellectual disability	80254	CEP63	OMIM:614728
HP:0001249	Intellectual disability	64087	MCCC2	OMIM:210210
HP:0001249	Intellectual disability	672	BRCA1	ORPHA:84
HP:0001249	Intellectual disability	672	BRCA1	OMIM:617883
HP:0001249	Intellectual disability	10459	MAD2L2	ORPHA:84
HP:0001249	Intellectual disability	7516	XRCC2	ORPHA:84
HP:0001249	Intellectual disability	29089	UBE2T	ORPHA:84
HP:0001249	Intellectual disability	675	BRCA2	ORPHA:84
HP:0001249	Intellectual disability	55120	FANCL	ORPHA:84
HP:0001249	Intellectual disability	2177	FANCD2	ORPHA:84
HP:0001249	Intellectual disability	2177	FANCD2	OMIM:227646
HP:0001249	Intellectual disability	2175	FANCA	ORPHA:84
HP:0001249	Intellectual disability	2175	FANCA	OMIM:227650
HP:0001249	Intellectual disability	2187	FANCB	ORPHA:84
HP:0001249	Intellectual disability	2187	FANCB	OMIM:300514
HP:0001249	Intellectual disability	2187	FANCB	ORPHA:3412
HP:0001249	Intellectual disability	2176	FANCC	ORPHA:84
HP:0001249	Intellectual disability	2176	FANCC	OMIM:227645
HP:0001249	Intellectual disability	2178	FANCE	ORPHA:84
HP:0001249	Intellectual disability	2178	FANCE	OMIM:600901
HP:0001249	Intellectual disability	2188	FANCF	ORPHA:84
HP:0001249	Intellectual disability	2189	FANCG	ORPHA:84
HP:0001249	Intellectual disability	5888	RAD51	ORPHA:84
HP:0001249	Intellectual disability	5888	RAD51	OMIM:617244
HP:0001249	Intellectual disability	5889	RAD51C	ORPHA:84
HP:0001249	Intellectual disability	55159	RFWD3	ORPHA:84
HP:0001249	Intellectual disability	83990	BRIP1	ORPHA:84
HP:0001249	Intellectual disability	57697	FANCM	ORPHA:84
HP:0001249	Intellectual disability	79728	PALB2	ORPHA:84
HP:0001249	Intellectual disability	84464	SLX4	ORPHA:84
HP:0001249	Intellectual disability	2072	ERCC4	ORPHA:84
HP:0001249	Intellectual disability	2072	ERCC4	ORPHA:90321
HP:0001249	Intellectual disability	2072	ERCC4	ORPHA:220295
HP:0001249	Intellectual disability	2072	ERCC4	OMIM:278760
HP:0001249	Intellectual disability	55215	FANCI	ORPHA:84
HP:0001249	Intellectual disability	546	ATRX	ORPHA:847
HP:0001249	Intellectual disability	546	ATRX	OMIM:301040
HP:0001249	Intellectual disability	10555	AGPAT2	OMIM:608594
HP:0001249	Intellectual disability	10555	AGPAT2	ORPHA:528
HP:0001249	Intellectual disability	222663	SCUBE3	OMIM:619184
HP:0001249	Intellectual disability	773	CACNA1A	ORPHA:97
HP:0001249	Intellectual disability	773	CACNA1A	ORPHA:2382
HP:0001249	Intellectual disability	773	CACNA1A	ORPHA:442835
HP:0001249	Intellectual disability	773	CACNA1A	ORPHA:569
HP:0001249	Intellectual disability	773	CACNA1A	ORPHA:2131
HP:0001249	Intellectual disability	773	CACNA1A	OMIM:617106
HP:0001249	Intellectual disability	9184	BUB3	ORPHA:1052
HP:0001249	Intellectual disability	699	BUB1	ORPHA:1052
HP:0001249	Intellectual disability	699	BUB1	OMIM:620183
HP:0001249	Intellectual disability	9702	CEP57	ORPHA:1052
HP:0001249	Intellectual disability	9702	CEP57	OMIM:614114
HP:0001249	Intellectual disability	9319	TRIP13	ORPHA:1052
HP:0001249	Intellectual disability	701	BUB1B	ORPHA:1052
HP:0001249	Intellectual disability	1759	DNM1	ORPHA:2382
HP:0001249	Intellectual disability	1759	DNM1	ORPHA:442835
HP:0001249	Intellectual disability	1759	DNM1	OMIM:616346
HP:0001249	Intellectual disability	2562	GABRB3	ORPHA:2382
HP:0001249	Intellectual disability	2562	GABRB3	ORPHA:64280
HP:0001249	Intellectual disability	2562	GABRB3	OMIM:617113
HP:0001249	Intellectual disability	5602	MAPK10	ORPHA:2382
HP:0001249	Intellectual disability	6323	SCN1A	ORPHA:2382
HP:0001249	Intellectual disability	6323	SCN1A	ORPHA:442835
HP:0001249	Intellectual disability	6323	SCN1A	ORPHA:1942
HP:0001249	Intellectual disability	6323	SCN1A	ORPHA:569
HP:0001249	Intellectual disability	23316	CUX2	ORPHA:2382
HP:0001249	Intellectual disability	23316	CUX2	OMIM:618141
HP:0001249	Intellectual disability	1106	CHD2	ORPHA:2382
HP:0001249	Intellectual disability	1106	CHD2	ORPHA:1942
HP:0001249	Intellectual disability	1106	CHD2	OMIM:615369
HP:0001249	Intellectual disability	6999	TDO2	OMIM:600627
HP:0001249	Intellectual disability	23036	ZNF292	OMIM:619188
HP:0001249	Intellectual disability	55148	UBR7	OMIM:619189
HP:0001249	Intellectual disability	84342	COG8	ORPHA:95428
HP:0001249	Intellectual disability	84342	COG8	OMIM:611182
HP:0001249	Intellectual disability	23545	ATP6V0A2	OMIM:278250
HP:0001249	Intellectual disability	23545	ATP6V0A2	OMIM:219200
HP:0001249	Intellectual disability	4915	NTRK2	OMIM:613886
HP:0001249	Intellectual disability	4915	NTRK2	ORPHA:442835
HP:0001249	Intellectual disability	56922	MCCC1	OMIM:210200
HP:0001249	Intellectual disability	3070	HELLS	OMIM:616911
HP:0001249	Intellectual disability	3070	HELLS	ORPHA:2268
HP:0001249	Intellectual disability	11160	ERLIN2	OMIM:611225
HP:0001249	Intellectual disability	11160	ERLIN2	OMIM:620512
HP:0001249	Intellectual disability	11160	ERLIN2	ORPHA:209951
HP:0001249	Intellectual disability	83879	CDCA7	OMIM:616910
HP:0001249	Intellectual disability	83879	CDCA7	ORPHA:2268
HP:0001249	Intellectual disability	25942	SIN3A	OMIM:613406
HP:0001249	Intellectual disability	25942	SIN3A	ORPHA:94065
HP:0001249	Intellectual disability	175	AGA	ORPHA:93
HP:0001249	Intellectual disability	175	AGA	OMIM:208400
HP:0001249	Intellectual disability	84947	SERAC1	OMIM:614739
HP:0001249	Intellectual disability	9653	HS2ST1	OMIM:619194
HP:0001249	Intellectual disability	3769	KCNJ13	ORPHA:65
HP:0001249	Intellectual disability	343035	RD3	ORPHA:65
HP:0001249	Intellectual disability	145226	RDH12	ORPHA:65
HP:0001249	Intellectual disability	1406	CRX	ORPHA:65
HP:0001249	Intellectual disability	64802	NMNAT1	ORPHA:65
HP:0001249	Intellectual disability	57096	RPGRIP1	ORPHA:65
HP:0001249	Intellectual disability	57096	RPGRIP1	OMIM:613826
HP:0001249	Intellectual disability	80184	CEP290	ORPHA:65
HP:0001249	Intellectual disability	80184	CEP290	ORPHA:2318
HP:0001249	Intellectual disability	80184	CEP290	OMIM:615991
HP:0001249	Intellectual disability	80184	CEP290	ORPHA:110
HP:0001249	Intellectual disability	80184	CEP290	OMIM:610188
HP:0001249	Intellectual disability	10383	TUBB4B	ORPHA:65
HP:0001249	Intellectual disability	9742	IFT140	ORPHA:65
HP:0001249	Intellectual disability	85015	USP45	ORPHA:65
HP:0001249	Intellectual disability	6121	RPE65	ORPHA:65
HP:0001249	Intellectual disability	6121	RPE65	OMIM:204100
HP:0001249	Intellectual disability	23418	CRB1	ORPHA:65
HP:0001249	Intellectual disability	5130	PCYT1A	ORPHA:65
HP:0001249	Intellectual disability	5130	PCYT1A	ORPHA:85167
HP:0001249	Intellectual disability	9657	IQCB1	ORPHA:65
HP:0001249	Intellectual disability	392255	GDF6	ORPHA:65
HP:0001249	Intellectual disability	23746	AIPL1	ORPHA:65
HP:0001249	Intellectual disability	9227	LRAT	ORPHA:65
HP:0001249	Intellectual disability	55812	SPATA7	ORPHA:65
HP:0001249	Intellectual disability	7287	TULP1	ORPHA:65
HP:0001249	Intellectual disability	167691	LCA5	ORPHA:65
HP:0001249	Intellectual disability	3614	IMPDH1	ORPHA:65
HP:0001249	Intellectual disability	7025	NR2F1	ORPHA:401777
HP:0001249	Intellectual disability	7025	NR2F1	OMIM:615722
HP:0001249	Intellectual disability	27286	SRPX2	ORPHA:163721
HP:0001249	Intellectual disability	27286	SRPX2	ORPHA:98889
HP:0001249	Intellectual disability	2903	GRIN2A	ORPHA:163721
HP:0001249	Intellectual disability	2903	GRIN2A	ORPHA:725
HP:0001249	Intellectual disability	2903	GRIN2A	OMIM:245570
HP:0001249	Intellectual disability	116442	RAB39B	ORPHA:2379
HP:0001249	Intellectual disability	116442	RAB39B	OMIM:300271
HP:0001249	Intellectual disability	64327	LMBR1	ORPHA:2378
HP:0001249	Intellectual disability	10908	PNPLA6	ORPHA:2377
HP:0001249	Intellectual disability	10908	PNPLA6	ORPHA:3363
HP:0001249	Intellectual disability	10908	PNPLA6	OMIM:275400
HP:0001249	Intellectual disability	10908	PNPLA6	OMIM:245800
HP:0001249	Intellectual disability	10846	PDE10A	OMIM:616922
HP:0001249	Intellectual disability	84720	PIGO	OMIM:614749
HP:0001249	Intellectual disability	84720	PIGO	ORPHA:247262
HP:0001249	Intellectual disability	5189	PEX1	ORPHA:3220
HP:0001249	Intellectual disability	5189	PEX1	OMIM:234580
HP:0001249	Intellectual disability	5190	PEX6	ORPHA:3220
HP:0001249	Intellectual disability	5190	PEX6	OMIM:614863
HP:0001249	Intellectual disability	23345	SYNE1	ORPHA:319332
HP:0001249	Intellectual disability	23345	SYNE1	ORPHA:88644
HP:0001249	Intellectual disability	23345	SYNE1	ORPHA:98853
HP:0001249	Intellectual disability	89884	LHX4	ORPHA:95496
HP:0001249	Intellectual disability	55717	WDR11	ORPHA:95496
HP:0001249	Intellectual disability	6091	ROBO1	ORPHA:95496
HP:0001249	Intellectual disability	6091	ROBO1	OMIM:620305
HP:0001249	Intellectual disability	23432	GPR161	ORPHA:95496
HP:0001249	Intellectual disability	11128	POLR3A	OMIM:264090
HP:0001249	Intellectual disability	80025	PANK2	OMIM:234200
HP:0001249	Intellectual disability	79759	ZNF668	OMIM:620194
HP:0001249	Intellectual disability	23503	ZFYVE26	OMIM:270700
HP:0001249	Intellectual disability	23503	ZFYVE26	ORPHA:100996
HP:0001249	Intellectual disability	283209	PGM2L1	OMIM:620191
HP:0001249	Intellectual disability	3251	HPRT1	OMIM:300322
HP:0001249	Intellectual disability	3251	HPRT1	ORPHA:79233
HP:0001249	Intellectual disability	8050	PDHX	OMIM:245349
HP:0001249	Intellectual disability	477	ATP1A2	OMIM:104290
HP:0001249	Intellectual disability	477	ATP1A2	ORPHA:442835
HP:0001249	Intellectual disability	477	ATP1A2	ORPHA:569
HP:0001249	Intellectual disability	477	ATP1A2	ORPHA:2131
HP:0001249	Intellectual disability	477	ATP1A2	OMIM:602481
HP:0001249	Intellectual disability	6473	SHOX	OMIM:249700
HP:0001249	Intellectual disability	23522	KAT6B	ORPHA:85201
HP:0001249	Intellectual disability	23522	KAT6B	ORPHA:3047
HP:0001249	Intellectual disability	4784	NFIX	OMIM:614753
HP:0001249	Intellectual disability	4784	NFIX	OMIM:602535
HP:0001249	Intellectual disability	4784	NFIX	ORPHA:561
HP:0001249	Intellectual disability	23261	CAMTA1	OMIM:614756
HP:0001249	Intellectual disability	54112	GPR88	OMIM:616939
HP:0001249	Intellectual disability	6605	SMARCE1	OMIM:616938
HP:0001249	Intellectual disability	158	ADSL	ORPHA:46
HP:0001249	Intellectual disability	158	ADSL	OMIM:103050
HP:0001249	Intellectual disability	51322	WAC	ORPHA:284169
HP:0001249	Intellectual disability	51322	WAC	ORPHA:466950
HP:0001249	Intellectual disability	9101	USP8	ORPHA:401795
HP:0001249	Intellectual disability	1013	CDH15	OMIM:612580
HP:0001249	Intellectual disability	6949	TCOF1	OMIM:154500
HP:0001249	Intellectual disability	6611	SMS	OMIM:309583
HP:0001249	Intellectual disability	3458	IFNG	ORPHA:805
HP:0001249	Intellectual disability	3458	IFNG	OMIM:613254
HP:0001249	Intellectual disability	7248	TSC1	ORPHA:805
HP:0001249	Intellectual disability	7248	TSC1	OMIM:191100
HP:0001249	Intellectual disability	7248	TSC1	OMIM:607341
HP:0001249	Intellectual disability	7249	TSC2	ORPHA:805
HP:0001249	Intellectual disability	7249	TSC2	OMIM:613254
HP:0001249	Intellectual disability	7249	TSC2	OMIM:607341
HP:0001249	Intellectual disability	81887	LAS1L	OMIM:309585
HP:0001249	Intellectual disability	81887	LAS1L	ORPHA:3459
HP:0001249	Intellectual disability	545	ATR	ORPHA:808
HP:0001249	Intellectual disability	545	ATR	OMIM:210600
HP:0001249	Intellectual disability	1062	CENPE	ORPHA:808
HP:0001249	Intellectual disability	5116	PCNT	ORPHA:808
HP:0001249	Intellectual disability	5116	PCNT	OMIM:210720
HP:0001249	Intellectual disability	5116	PCNT	ORPHA:2637
HP:0001249	Intellectual disability	5932	RBBP8	ORPHA:808
HP:0001249	Intellectual disability	5932	RBBP8	OMIM:251255
HP:0001249	Intellectual disability	79902	NUP85	ORPHA:808
HP:0001249	Intellectual disability	84126	ATRIP	ORPHA:808
HP:0001249	Intellectual disability	10293	TRAIP	ORPHA:808
HP:0001249	Intellectual disability	1763	DNA2	ORPHA:808
HP:0001249	Intellectual disability	1763	DNA2	OMIM:615807
HP:0001249	Intellectual disability	22995	CEP152	ORPHA:808
HP:0001249	Intellectual disability	22995	CEP152	OMIM:613823
HP:0001249	Intellectual disability	5663	PSEN1	ORPHA:1020
HP:0001249	Intellectual disability	5664	PSEN2	ORPHA:1020
HP:0001249	Intellectual disability	10452	TOMM40	ORPHA:1020
HP:0001249	Intellectual disability	351	APP	ORPHA:1020
HP:0001249	Intellectual disability	351	APP	ORPHA:324703
HP:0001249	Intellectual disability	54209	TREM2	ORPHA:1020
HP:0001249	Intellectual disability	10347	ABCA7	ORPHA:1020
HP:0001249	Intellectual disability	6653	SORL1	ORPHA:1020
HP:0001249	Intellectual disability	200403	VWA3B	OMIM:616948
HP:0001249	Intellectual disability	147372	CCBE1	OMIM:235510
HP:0001249	Intellectual disability	147372	CCBE1	ORPHA:2136
HP:0001249	Intellectual disability	6509	SLC1A4	ORPHA:447997
HP:0001249	Intellectual disability	6509	SLC1A4	OMIM:616657
HP:0001249	Intellectual disability	3339	HSPG2	ORPHA:800
HP:0001249	Intellectual disability	3339	HSPG2	ORPHA:1606
HP:0001249	Intellectual disability	3339	HSPG2	OMIM:255800
HP:0001249	Intellectual disability	2776	GNAQ	ORPHA:3205
HP:0001249	Intellectual disability	2776	GNAQ	ORPHA:624
HP:0001249	Intellectual disability	2776	GNAQ	OMIM:185300
HP:0001249	Intellectual disability	226	ALDOA	ORPHA:57
HP:0001249	Intellectual disability	226	ALDOA	OMIM:611881
HP:0001249	Intellectual disability	6567	SLC16A2	ORPHA:59
HP:0001249	Intellectual disability	3897	L1CAM	ORPHA:1497
HP:0001249	Intellectual disability	3897	L1CAM	OMIM:307000
HP:0001249	Intellectual disability	3897	L1CAM	ORPHA:2466
HP:0001249	Intellectual disability	3897	L1CAM	OMIM:304100
HP:0001249	Intellectual disability	3897	L1CAM	OMIM:303350
HP:0001249	Intellectual disability	22907	DHX30	OMIM:617804
HP:0001249	Intellectual disability	9990	SLC12A6	ORPHA:1496
HP:0001249	Intellectual disability	9990	SLC12A6	OMIM:620068
HP:0001249	Intellectual disability	9990	SLC12A6	OMIM:218000
HP:0001249	Intellectual disability	7407	VARS1	OMIM:617802
HP:0001249	Intellectual disability	9894	TELO2	OMIM:616954
HP:0001249	Intellectual disability	57724	EPG5	ORPHA:1493
HP:0001249	Intellectual disability	196528	ARID2	OMIM:617808
HP:0001249	Intellectual disability	9230	RAB11B	OMIM:617807
HP:0001249	Intellectual disability	10075	HUWE1	OMIM:309590
HP:0001249	Intellectual disability	22856	CHSY1	ORPHA:363417
HP:0001249	Intellectual disability	60529	ALX4	OMIM:613451
HP:0001249	Intellectual disability	60529	ALX4	ORPHA:52022
HP:0001249	Intellectual disability	60529	ALX4	ORPHA:60015
HP:0001249	Intellectual disability	8733	GPAA1	OMIM:617810
HP:0001249	Intellectual disability	26160	IFT172	OMIM:615630
HP:0001249	Intellectual disability	26160	IFT172	ORPHA:110
HP:0001249	Intellectual disability	79848	CSPP1	OMIM:615636
HP:0001249	Intellectual disability	79848	CSPP1	ORPHA:475
HP:0001249	Intellectual disability	9759	HDAC4	ORPHA:1001
HP:0001249	Intellectual disability	9759	HDAC4	OMIM:600430
HP:0001249	Intellectual disability	11133	KPTN	OMIM:615637
HP:0001249	Intellectual disability	11133	KPTN	ORPHA:397612
HP:0001249	Intellectual disability	8092	ALX1	OMIM:613456
HP:0001249	Intellectual disability	8092	ALX1	ORPHA:306542
HP:0001249	Intellectual disability	5279	PIGC	OMIM:617816
HP:0001249	Intellectual disability	57465	TBC1D24	OMIM:605021
HP:0001249	Intellectual disability	57465	TBC1D24	OMIM:220500
HP:0001249	Intellectual disability	9150	CTDP1	OMIM:604168
HP:0001249	Intellectual disability	79587	CARS2	ORPHA:477774
HP:0001249	Intellectual disability	84162	BLTP1	OMIM:617822
HP:0001249	Intellectual disability	80347	COASY	OMIM:615643
HP:0001249	Intellectual disability	1806	DPYD	OMIM:274270
HP:0001249	Intellectual disability	1806	DPYD	ORPHA:293948
HP:0001249	Intellectual disability	2782	GNB1	OMIM:616973
HP:0001249	Intellectual disability	2782	GNB1	ORPHA:488613
HP:0001249	Intellectual disability	5447	POR	OMIM:207410
HP:0001249	Intellectual disability	8085	KMT2D	ORPHA:2322
HP:0001249	Intellectual disability	8085	KMT2D	OMIM:147920
HP:0001249	Intellectual disability	7403	KDM6A	ORPHA:2322
HP:0001249	Intellectual disability	7403	KDM6A	OMIM:300867
HP:0001249	Intellectual disability	7403	KDM6A	OMIM:147920
HP:0001249	Intellectual disability	10413	YAP1	ORPHA:1473
HP:0001249	Intellectual disability	10413	YAP1	OMIM:120433
HP:0001249	Intellectual disability	7200	TRH	OMIM:275120
HP:0001249	Intellectual disability	3097	HIVEP2	OMIM:616977
HP:0001249	Intellectual disability	2561	GABRB2	OMIM:617829
HP:0001249	Intellectual disability	2561	GABRB2	ORPHA:442835
HP:0001249	Intellectual disability	2332	FMR1	ORPHA:449291
HP:0001249	Intellectual disability	2821	GPI	OMIM:613470
HP:0001249	Intellectual disability	116150	NUS1	OMIM:617831
HP:0001249	Intellectual disability	116150	NUS1	ORPHA:442835
HP:0001249	Intellectual disability	51741	WWOX	OMIM:614322
HP:0001249	Intellectual disability	51741	WWOX	ORPHA:442835
HP:0001249	Intellectual disability	4358	MPV17	OMIM:256810
HP:0001249	Intellectual disability	134701	RIPPLY2	ORPHA:2311
HP:0001249	Intellectual disability	10683	DLL3	ORPHA:2311
HP:0001249	Intellectual disability	3955	LFNG	ORPHA:2311
HP:0001249	Intellectual disability	84667	HES7	ORPHA:2311
HP:0001249	Intellectual disability	145873	MESP2	ORPHA:2311
HP:0001249	Intellectual disability	6663	SOX10	ORPHA:163746
HP:0001249	Intellectual disability	6663	SOX10	OMIM:611584
HP:0001249	Intellectual disability	6663	SOX10	OMIM:609136
HP:0001249	Intellectual disability	79947	DHDDS	OMIM:617836
HP:0001249	Intellectual disability	79947	DHDDS	ORPHA:442835
HP:0001249	Intellectual disability	2911	GRM1	ORPHA:324262
HP:0001249	Intellectual disability	2911	GRM1	OMIM:614831
HP:0001249	Intellectual disability	2138	EYA1	ORPHA:2792
HP:0001249	Intellectual disability	5075	PAX1	ORPHA:2792
HP:0001249	Intellectual disability	157570	ESCO2	ORPHA:2319
HP:0001249	Intellectual disability	157570	ESCO2	OMIM:268300
HP:0001249	Intellectual disability	157570	ESCO2	OMIM:216100
HP:0001249	Intellectual disability	157570	ESCO2	ORPHA:3103
HP:0001249	Intellectual disability	79583	TMEM231	ORPHA:2318
HP:0001249	Intellectual disability	79583	TMEM231	ORPHA:2754
HP:0001249	Intellectual disability	51524	TMEM138	ORPHA:2318
HP:0001249	Intellectual disability	23090	ZNF423	ORPHA:2318
HP:0001249	Intellectual disability	57545	CC2D2A	ORPHA:2318
HP:0001249	Intellectual disability	57545	CC2D2A	OMIM:619111
HP:0001249	Intellectual disability	57545	CC2D2A	OMIM:612285
HP:0001249	Intellectual disability	197131	UBR1	ORPHA:2315
HP:0001249	Intellectual disability	197131	UBR1	OMIM:243800
HP:0001249	Intellectual disability	6792	CDKL5	ORPHA:505652
HP:0001249	Intellectual disability	6792	CDKL5	ORPHA:1934
HP:0001249	Intellectual disability	6792	CDKL5	ORPHA:3095
HP:0001249	Intellectual disability	84188	FAR1	ORPHA:438178
HP:0001249	Intellectual disability	7098	TLR3	OMIM:613002
HP:0001249	Intellectual disability	4914	NTRK1	OMIM:256800
HP:0001249	Intellectual disability	4914	NTRK1	ORPHA:642
HP:0001249	Intellectual disability	114548	NLRP3	ORPHA:1451
HP:0001249	Intellectual disability	139285	AMER1	ORPHA:2780
HP:0001249	Intellectual disability	760	CA2	ORPHA:2785
HP:0001249	Intellectual disability	760	CA2	OMIM:259730
HP:0001249	Intellectual disability	64840	PORCN	OMIM:305600
HP:0001249	Intellectual disability	55180	LINS1	OMIM:614340
HP:0001249	Intellectual disability	1213	CLTC	OMIM:617854
HP:0001249	Intellectual disability	1213	CLTC	ORPHA:442835
HP:0001249	Intellectual disability	23040	MYT1L	OMIM:616521
HP:0001249	Intellectual disability	23040	MYT1L	ORPHA:647799
HP:0001249	Intellectual disability	85440	DOCK7	ORPHA:411986
HP:0001249	Intellectual disability	6697	SPR	ORPHA:70594
HP:0001249	Intellectual disability	6697	SPR	OMIM:612716
HP:0001249	Intellectual disability	1130	LYST	ORPHA:352723
HP:0001249	Intellectual disability	1130	LYST	OMIM:214500
HP:0001249	Intellectual disability	1130	LYST	ORPHA:167
HP:0001249	Intellectual disability	8022	LHX3	OMIM:221750
HP:0001249	Intellectual disability	1836	SLC26A2	OMIM:222600
HP:0001249	Intellectual disability	22796	COG2	ORPHA:435934
HP:0001249	Intellectual disability	953	ENTPD1	OMIM:615683
HP:0001249	Intellectual disability	2893	GRIA4	OMIM:617864
HP:0001249	Intellectual disability	23204	ARL6IP1	OMIM:615685
HP:0001249	Intellectual disability	81562	LMAN2L	OMIM:617863
HP:0001249	Intellectual disability	271	AMPD2	OMIM:615686
HP:0001249	Intellectual disability	271	AMPD2	OMIM:615809
HP:0001249	Intellectual disability	60482	SLC5A7	ORPHA:98914
HP:0001249	Intellectual disability	60482	SLC5A7	OMIM:617143
HP:0001249	Intellectual disability	4649	MYO9A	ORPHA:98914
HP:0001249	Intellectual disability	1305	COL13A1	ORPHA:98914
HP:0001249	Intellectual disability	1103	CHAT	ORPHA:98914
HP:0001249	Intellectual disability	6576	SLC25A1	ORPHA:98914
HP:0001249	Intellectual disability	6843	VAMP1	ORPHA:98914
HP:0001249	Intellectual disability	375790	AGRN	ORPHA:98914
HP:0001249	Intellectual disability	127833	SYT2	ORPHA:98914
HP:0001249	Intellectual disability	6572	SLC18A3	ORPHA:98914
HP:0001249	Intellectual disability	6616	SNAP25	ORPHA:98914
HP:0001249	Intellectual disability	8292	COLQ	ORPHA:98915
HP:0001249	Intellectual disability	3913	LAMB2	ORPHA:98915
HP:0001249	Intellectual disability	84628	NTNG2	OMIM:618718
HP:0001249	Intellectual disability	9076	CLDN1	OMIM:607626
HP:0001249	Intellectual disability	4094	MAF	OMIM:601088
HP:0001249	Intellectual disability	4094	MAF	ORPHA:1272
HP:0001249	Intellectual disability	10577	NPC2	OMIM:607625
HP:0001249	Intellectual disability	5422	POLA1	OMIM:301220
HP:0001249	Intellectual disability	5422	POLA1	OMIM:301030
HP:0001249	Intellectual disability	6513	SLC2A1	OMIM:606777
HP:0001249	Intellectual disability	6513	SLC2A1	ORPHA:1942
HP:0001249	Intellectual disability	6513	SLC2A1	ORPHA:168577
HP:0001249	Intellectual disability	6513	SLC2A1	OMIM:608885
HP:0001249	Intellectual disability	6513	SLC2A1	ORPHA:71277
HP:0001249	Intellectual disability	6513	SLC2A1	ORPHA:64280
HP:0001249	Intellectual disability	6513	SLC2A1	ORPHA:53583
HP:0001249	Intellectual disability	6513	SLC2A1	OMIM:614847
HP:0001249	Intellectual disability	6513	SLC2A1	ORPHA:98811
HP:0001249	Intellectual disability	54802	TRIT1	OMIM:617873
HP:0001249	Intellectual disability	650	BMP2	OMIM:617877
HP:0001249	Intellectual disability	51317	PHF21A	OMIM:618725
HP:0001249	Intellectual disability	51317	PHF21A	ORPHA:52022
HP:0001249	Intellectual disability	55733	HHAT	ORPHA:1422
HP:0001249	Intellectual disability	10735	STAG2	ORPHA:220386
HP:0001249	Intellectual disability	10735	STAG2	ORPHA:93925
HP:0001249	Intellectual disability	10735	STAG2	OMIM:301043
HP:0001249	Intellectual disability	8243	SMC1A	ORPHA:220386
HP:0001249	Intellectual disability	8243	SMC1A	OMIM:300590
HP:0001249	Intellectual disability	8243	SMC1A	ORPHA:199
HP:0001249	Intellectual disability	8243	SMC1A	ORPHA:3095
HP:0001249	Intellectual disability	387	RHOA	OMIM:618727
HP:0001249	Intellectual disability	8777	MPDZ	OMIM:615219
HP:0001249	Intellectual disability	5449	POU1F1	OMIM:613038
HP:0001249	Intellectual disability	8481	OFD1	ORPHA:2750
HP:0001249	Intellectual disability	8481	OFD1	ORPHA:2754
HP:0001249	Intellectual disability	8481	OFD1	OMIM:311200
HP:0001249	Intellectual disability	8481	OFD1	ORPHA:475
HP:0001249	Intellectual disability	7138	TNNT1	ORPHA:98902
HP:0001249	Intellectual disability	7138	TNNT1	OMIM:605355
HP:0001249	Intellectual disability	8086	AAAS	OMIM:231550
HP:0001249	Intellectual disability	8086	AAAS	ORPHA:869
HP:0001249	Intellectual disability	64131	XYLT1	ORPHA:1425
HP:0001249	Intellectual disability	64131	XYLT1	OMIM:615777
HP:0001249	Intellectual disability	124583	CANT1	ORPHA:1425
HP:0001249	Intellectual disability	124583	CANT1	OMIM:251450
HP:0001249	Intellectual disability	55790	CSGALNACT1	ORPHA:1425
HP:0001249	Intellectual disability	8139	GAN	OMIM:256850
HP:0001249	Intellectual disability	8139	GAN	ORPHA:643
HP:0001249	Intellectual disability	10210	TOPORS	ORPHA:2754
HP:0001249	Intellectual disability	9851	KIAA0753	ORPHA:2754
HP:0001249	Intellectual disability	9851	KIAA0753	ORPHA:475
HP:0001249	Intellectual disability	5147	PDE6D	ORPHA:2754
HP:0001249	Intellectual disability	5147	PDE6D	ORPHA:475
HP:0001249	Intellectual disability	65250	CPLANE1	ORPHA:2754
HP:0001249	Intellectual disability	65250	CPLANE1	OMIM:277170
HP:0001249	Intellectual disability	65250	CPLANE1	ORPHA:475
HP:0001249	Intellectual disability	2182	ACSL4	OMIM:300387
HP:0001249	Intellectual disability	83452	RAB33B	OMIM:615222
HP:0001249	Intellectual disability	8626	TP63	ORPHA:1896
HP:0001249	Intellectual disability	8626	TP63	OMIM:106260
HP:0001249	Intellectual disability	8626	TP63	OMIM:604292
HP:0001249	Intellectual disability	7545	ZIC1	OMIM:618736
HP:0001249	Intellectual disability	7545	ZIC1	ORPHA:35099
HP:0001249	Intellectual disability	51763	INPP5K	OMIM:617404
HP:0001249	Intellectual disability	4281	MID1	ORPHA:2745
HP:0001249	Intellectual disability	109	ADCY3	OMIM:617885
HP:0001249	Intellectual disability	1460	CSNK2B	OMIM:618732
HP:0001249	Intellectual disability	8449	DHX16	OMIM:618733
HP:0001249	Intellectual disability	2746	GLUD1	OMIM:606762
HP:0001249	Intellectual disability	246329	STAC3	OMIM:255995
HP:0001249	Intellectual disability	1497	CTNS	OMIM:219800
HP:0001249	Intellectual disability	8367	H4C5	OMIM:619950
HP:0001249	Intellectual disability	8294	H4C9	OMIM:619951
HP:0001249	Intellectual disability	229	ALDOB	OMIM:229600
HP:0001249	Intellectual disability	9853	RUSC2	OMIM:617773
HP:0001249	Intellectual disability	3703	STT3A	OMIM:615596
HP:0001249	Intellectual disability	3703	STT3A	OMIM:619714
HP:0001249	Intellectual disability	3703	STT3A	ORPHA:370921
HP:0001249	Intellectual disability	6873	TAF2	OMIM:615599
HP:0001249	Intellectual disability	6873	TAF2	ORPHA:397951
HP:0001249	Intellectual disability	1947	EFNB1	ORPHA:1520
HP:0001249	Intellectual disability	1947	EFNB1	OMIM:304110
HP:0001249	Intellectual disability	23417	MLYCD	OMIM:248360
HP:0001249	Intellectual disability	4047	LSS	ORPHA:2850
HP:0001249	Intellectual disability	4047	LSS	OMIM:618840
HP:0001249	Intellectual disability	197	AHSG	ORPHA:2850
HP:0001249	Intellectual disability	3694	ITGB6	ORPHA:2850
HP:0001249	Intellectual disability	5830	PEX5	OMIM:214110
HP:0001249	Intellectual disability	5830	PEX5	OMIM:202370
HP:0001249	Intellectual disability	2067	ERCC1	ORPHA:90322
HP:0001249	Intellectual disability	114803	MYSM1	ORPHA:508542
HP:0001249	Intellectual disability	65267	WNK3	OMIM:309610
HP:0001249	Intellectual disability	7552	ZNF711	OMIM:300803
HP:0001249	Intellectual disability	6855	SYP	OMIM:300802
HP:0001249	Intellectual disability	51111	KMT5B	OMIM:617788
HP:0001249	Intellectual disability	55689	YEATS2	OMIM:615127
HP:0001249	Intellectual disability	55689	YEATS2	ORPHA:86814
HP:0001249	Intellectual disability	80155	NAA15	OMIM:617787
HP:0001249	Intellectual disability	526	ATP6V1B2	OMIM:616455
HP:0001249	Intellectual disability	526	ATP6V1B2	ORPHA:79499
HP:0001249	Intellectual disability	526	ATP6V1B2	ORPHA:3473
HP:0001249	Intellectual disability	526	ATP6V1B2	OMIM:124480
HP:0001249	Intellectual disability	10730	YME1L1	OMIM:617302
HP:0001249	Intellectual disability	129563	DIS3L2	ORPHA:2849
HP:0001249	Intellectual disability	3908	LAMA2	ORPHA:258
HP:0001249	Intellectual disability	3908	LAMA2	OMIM:607855
HP:0001249	Intellectual disability	50964	SOST	ORPHA:1513
HP:0001249	Intellectual disability	121340	SP7	ORPHA:1513
HP:0001249	Intellectual disability	23474	ETHE1	ORPHA:51188
HP:0001249	Intellectual disability	23474	ETHE1	OMIM:602473
HP:0001249	Intellectual disability	5428	POLG	ORPHA:298
HP:0001249	Intellectual disability	5428	POLG	OMIM:603041
HP:0001249	Intellectual disability	1890	TYMP	ORPHA:298
HP:0001249	Intellectual disability	1890	TYMP	OMIM:603041
HP:0001249	Intellectual disability	3980	LIG3	ORPHA:298
HP:0001249	Intellectual disability	50484	RRM2B	ORPHA:298
HP:0001249	Intellectual disability	50484	RRM2B	OMIM:612075
HP:0001249	Intellectual disability	10559	SLC35A1	OMIM:603585
HP:0001249	Intellectual disability	8575	PRKRA	ORPHA:210571
HP:0001249	Intellectual disability	535	ATP6V0A1	OMIM:619971
HP:0001249	Intellectual disability	535	ATP6V0A1	OMIM:619970
HP:0001249	Intellectual disability	2937	GSS	OMIM:231900
HP:0001249	Intellectual disability	2937	GSS	OMIM:266130
HP:0001249	Intellectual disability	129685	TAF8	OMIM:619972
HP:0001249	Intellectual disability	10584	COLEC10	OMIM:248340
HP:0001249	Intellectual disability	10584	COLEC10	ORPHA:293843
HP:0001249	Intellectual disability	55870	ASH1L	OMIM:617796
HP:0001249	Intellectual disability	816	CAMK2B	OMIM:617799
HP:0001249	Intellectual disability	815	CAMK2A	OMIM:617798
HP:0001249	Intellectual disability	55109	AGGF1	ORPHA:90308
HP:0001249	Intellectual disability	5290	PIK3CA	ORPHA:90308
HP:0001249	Intellectual disability	5290	PIK3CA	ORPHA:168984
HP:0001249	Intellectual disability	5290	PIK3CA	ORPHA:201
HP:0001249	Intellectual disability	5290	PIK3CA	ORPHA:140944
HP:0001249	Intellectual disability	5290	PIK3CA	ORPHA:60040
HP:0001249	Intellectual disability	5290	PIK3CA	OMIM:615108
HP:0001249	Intellectual disability	5290	PIK3CA	OMIM:602501
HP:0001249	Intellectual disability	64359	NXN	ORPHA:1507
HP:0001249	Intellectual disability	4920	ROR2	ORPHA:1507
HP:0001249	Intellectual disability	4920	ROR2	OMIM:268310
HP:0001249	Intellectual disability	5566	PRKACA	ORPHA:289
HP:0001249	Intellectual disability	5567	PRKACB	ORPHA:289
HP:0001249	Intellectual disability	2735	GLI1	ORPHA:289
HP:0001249	Intellectual disability	2121	EVC	ORPHA:289
HP:0001249	Intellectual disability	2121	EVC	OMIM:225500
HP:0001249	Intellectual disability	51626	DYNC2LI1	ORPHA:289
HP:0001249	Intellectual disability	132884	EVC2	ORPHA:289
HP:0001249	Intellectual disability	132884	EVC2	OMIM:225500
HP:0001249	Intellectual disability	22884	WDR37	OMIM:618652
HP:0001249	Intellectual disability	1656	DDX6	OMIM:618653
HP:0001249	Intellectual disability	3612	IMPA1	OMIM:617323
HP:0001249	Intellectual disability	55714	TENM3	OMIM:615145
HP:0001249	Intellectual disability	57178	ZMIZ1	OMIM:618659
HP:0001249	Intellectual disability	7291	TWIST1	OMIM:101400
HP:0001249	Intellectual disability	7291	TWIST1	ORPHA:35099
HP:0001249	Intellectual disability	7291	TWIST1	OMIM:123100
HP:0001249	Intellectual disability	2783	GNB2	OMIM:619503
HP:0001249	Intellectual disability	9731	CEP104	OMIM:619988
HP:0001249	Intellectual disability	9731	CEP104	ORPHA:475
HP:0001249	Intellectual disability	3737	KCNA2	ORPHA:442835
HP:0001249	Intellectual disability	3737	KCNA2	OMIM:616366
HP:0001249	Intellectual disability	8120	AP3B2	ORPHA:442835
HP:0001249	Intellectual disability	523	ATP6V1A	ORPHA:442835
HP:0001249	Intellectual disability	523	ATP6V1A	OMIM:618012
HP:0001249	Intellectual disability	10991	SLC38A3	ORPHA:442835
HP:0001249	Intellectual disability	10991	SLC38A3	OMIM:619881
HP:0001249	Intellectual disability	51343	FZR1	ORPHA:442835
HP:0001249	Intellectual disability	3747	KCNC2	ORPHA:442835
HP:0001249	Intellectual disability	3747	KCNC2	OMIM:619913
HP:0001249	Intellectual disability	1917	EEF1A2	ORPHA:442835
HP:0001249	Intellectual disability	23219	FBXO28	ORPHA:442835
HP:0001249	Intellectual disability	23219	FBXO28	OMIM:619777
HP:0001249	Intellectual disability	2558	GABRA5	ORPHA:442835
HP:0001249	Intellectual disability	2906	GRIN2D	ORPHA:442835
HP:0001249	Intellectual disability	23334	SZT2	ORPHA:442835
HP:0001249	Intellectual disability	348980	HCN1	ORPHA:442835
HP:0001249	Intellectual disability	348980	HCN1	OMIM:615871
HP:0001249	Intellectual disability	348980	HCN1	OMIM:618482
HP:0001249	Intellectual disability	25977	NECAP1	ORPHA:442835
HP:0001249	Intellectual disability	23241	PACS2	ORPHA:442835
HP:0001249	Intellectual disability	23241	PACS2	OMIM:618067
HP:0001249	Intellectual disability	16	AARS1	ORPHA:442835
HP:0001249	Intellectual disability	9568	GABBR2	ORPHA:442835
HP:0001249	Intellectual disability	9568	GABBR2	ORPHA:3095
HP:0001249	Intellectual disability	9568	GABBR2	OMIM:617903
HP:0001249	Intellectual disability	9568	GABBR2	OMIM:617904
HP:0001249	Intellectual disability	2555	GABRA2	ORPHA:442835
HP:0001249	Intellectual disability	55152	DALRD3	ORPHA:442835
HP:0001249	Intellectual disability	26999	CYFIP2	ORPHA:442835
HP:0001249	Intellectual disability	25973	PARS2	ORPHA:442835
HP:0001249	Intellectual disability	23097	CDK19	ORPHA:442835
HP:0001249	Intellectual disability	23097	CDK19	OMIM:618916
HP:0001249	Intellectual disability	2257	FGF12	ORPHA:442835
HP:0001249	Intellectual disability	5530	PPP3CA	ORPHA:442835
HP:0001249	Intellectual disability	5530	PPP3CA	OMIM:618265
HP:0001249	Intellectual disability	5530	PPP3CA	OMIM:617711
HP:0001249	Intellectual disability	22906	TRAK1	ORPHA:442835
HP:0001249	Intellectual disability	2566	GABRG2	ORPHA:442835
HP:0001249	Intellectual disability	2566	GABRG2	ORPHA:64280
HP:0001249	Intellectual disability	7532	YWHAG	ORPHA:442835
HP:0001249	Intellectual disability	7532	YWHAG	OMIM:617665
HP:0001249	Intellectual disability	79876	UBA5	ORPHA:442835
HP:0001249	Intellectual disability	6328	SCN3A	ORPHA:442835
HP:0001249	Intellectual disability	781	CACNA2D1	ORPHA:442835
HP:0001249	Intellectual disability	10659	CELF2	ORPHA:442835
HP:0001249	Intellectual disability	10659	CELF2	OMIM:619561
HP:0001249	Intellectual disability	774	CACNA1B	ORPHA:442835
HP:0001249	Intellectual disability	51412	ACTL6B	ORPHA:442835
HP:0001249	Intellectual disability	51412	ACTL6B	OMIM:618468
HP:0001249	Intellectual disability	2290	FOXG1	ORPHA:442835
HP:0001249	Intellectual disability	6506	SLC1A2	ORPHA:442835
HP:0001249	Intellectual disability	3745	KCNB1	ORPHA:442835
HP:0001249	Intellectual disability	284111	SLC13A5	ORPHA:442835
HP:0001249	Intellectual disability	22866	CNKSR2	ORPHA:442835
HP:0001249	Intellectual disability	55623	THUMPD1	OMIM:619989
HP:0001249	Intellectual disability	3782	KCNN3	OMIM:618658
HP:0001249	Intellectual disability	3782	KCNN3	ORPHA:3473
HP:0001249	Intellectual disability	8642	DCHS1	OMIM:601390
HP:0001249	Intellectual disability	492	ATP2B3	ORPHA:314978
HP:0001249	Intellectual disability	3476	IGBP1	ORPHA:52055
HP:0001249	Intellectual disability	3476	IGBP1	OMIM:300472
HP:0001249	Intellectual disability	54888	NSUN2	ORPHA:235
HP:0001249	Intellectual disability	54888	NSUN2	OMIM:611091
HP:0001249	Intellectual disability	253738	EBF3	OMIM:617330
HP:0001249	Intellectual disability	253738	EBF3	ORPHA:96148
HP:0001249	Intellectual disability	56006	SMG9	OMIM:619995
HP:0001249	Intellectual disability	1182	CLCN3	OMIM:619512
HP:0001249	Intellectual disability	7862	BRPF1	OMIM:617333
HP:0001249	Intellectual disability	59335	PRDM12	OMIM:616488
HP:0001249	Intellectual disability	2550	GABBR1	OMIM:620502
HP:0001249	Intellectual disability	286	ANK1	ORPHA:251066
HP:0001249	Intellectual disability	5860	QDPR	ORPHA:226
HP:0001249	Intellectual disability	5860	QDPR	OMIM:261630
HP:0001249	Intellectual disability	93986	FOXP2	ORPHA:251061
HP:0001249	Intellectual disability	26137	ZBTB20	OMIM:259050
HP:0001249	Intellectual disability	26137	ZBTB20	ORPHA:3042
HP:0001249	Intellectual disability	9533	POLR1C	OMIM:616494
HP:0001249	Intellectual disability	7750	ZMYM2	OMIM:619522
HP:0001249	Intellectual disability	4849	CNOT3	OMIM:618672
HP:0001249	Intellectual disability	57466	SCAF4	OMIM:620511
HP:0001249	Intellectual disability	488	ATP2A2	ORPHA:218
HP:0001249	Intellectual disability	23314	SATB2	ORPHA:576283
HP:0001249	Intellectual disability	23314	SATB2	OMIM:612313
HP:0001249	Intellectual disability	153201	SLC36A2	OMIM:242600
HP:0001249	Intellectual disability	284098	PIGW	OMIM:616025
HP:0001249	Intellectual disability	284098	PIGW	ORPHA:247262
HP:0001249	Intellectual disability	339855	KY	ORPHA:496689
HP:0001249	Intellectual disability	10848	PPP1R13L	OMIM:620519
HP:0001249	Intellectual disability	57479	PRR12	OMIM:619539
HP:0001249	Intellectual disability	2678	GGT1	OMIM:231950
HP:0001249	Intellectual disability	3785	KCNQ2	ORPHA:439218
HP:0001249	Intellectual disability	3785	KCNQ2	OMIM:613720
HP:0001249	Intellectual disability	3930	LBR	OMIM:169400
HP:0001249	Intellectual disability	1107	CHD3	OMIM:618205
HP:0001249	Intellectual disability	23189	KANK1	OMIM:612900
HP:0001249	Intellectual disability	2055	CLN8	ORPHA:1947
HP:0001249	Intellectual disability	2055	CLN8	OMIM:610003
HP:0001249	Intellectual disability	1173	AP2M1	ORPHA:1942
HP:0001249	Intellectual disability	1173	AP2M1	OMIM:618587
HP:0001249	Intellectual disability	6529	SLC6A1	ORPHA:1942
HP:0001249	Intellectual disability	6529	SLC6A1	OMIM:616421
HP:0001249	Intellectual disability	6595	SMARCA2	OMIM:601358
HP:0001249	Intellectual disability	6595	SMARCA2	ORPHA:3051
HP:0001249	Intellectual disability	6595	SMARCA2	OMIM:619293
HP:0001249	Intellectual disability	148789	B3GALNT2	OMIM:615181
HP:0001249	Intellectual disability	148789	B3GALNT2	ORPHA:899
HP:0001249	Intellectual disability	6812	STXBP1	ORPHA:599373
HP:0001249	Intellectual disability	8621	CDK13	OMIM:617360
HP:0001249	Intellectual disability	27133	KCNH5	OMIM:620537
HP:0001249	Intellectual disability	6709	SPTAN1	OMIM:620538
HP:0001249	Intellectual disability	6709	SPTAN1	OMIM:620540
HP:0001249	Intellectual disability	164	AP1G1	OMIM:619548
HP:0001249	Intellectual disability	164	AP1G1	OMIM:619467
HP:0001249	Intellectual disability	3736	KCNA1	ORPHA:1934
HP:0001249	Intellectual disability	9091	PIGQ	ORPHA:1934
HP:0001249	Intellectual disability	140679	SLC32A1	ORPHA:1934
HP:0001249	Intellectual disability	140679	SLC32A1	OMIM:620774
HP:0001249	Intellectual disability	2775	GNAO1	ORPHA:1934
HP:0001249	Intellectual disability	81603	TRIM8	ORPHA:1934
HP:0001249	Intellectual disability	2902	GRIN1	ORPHA:1934
HP:0001249	Intellectual disability	2902	GRIN1	OMIM:614254
HP:0001249	Intellectual disability	79751	SLC25A22	ORPHA:1934
HP:0001249	Intellectual disability	150094	SIK1	ORPHA:1934
HP:0001249	Intellectual disability	8573	CASK	ORPHA:1934
HP:0001249	Intellectual disability	8573	CASK	OMIM:300422
HP:0001249	Intellectual disability	23312	DMXL2	ORPHA:1934
HP:0001249	Intellectual disability	2917	GRM7	ORPHA:1934
HP:0001249	Intellectual disability	2917	GRM7	OMIM:618922
HP:0001249	Intellectual disability	11284	PNKP	ORPHA:1934
HP:0001249	Intellectual disability	6326	SCN2A	ORPHA:1934
HP:0001249	Intellectual disability	51227	PIGP	ORPHA:1934
HP:0001249	Intellectual disability	6324	SCN1B	ORPHA:1934
HP:0001249	Intellectual disability	4761	NEUROD2	ORPHA:1934
HP:0001249	Intellectual disability	54808	DYM	ORPHA:239
HP:0001249	Intellectual disability	54808	DYM	OMIM:223800
HP:0001249	Intellectual disability	54808	DYM	OMIM:607326
HP:0001249	Intellectual disability	10456	HAX1	OMIM:610738
HP:0001249	Intellectual disability	2737	GLI3	ORPHA:672
HP:0001249	Intellectual disability	2737	GLI3	OMIM:146510
HP:0001249	Intellectual disability	2737	GLI3	OMIM:174200
HP:0001249	Intellectual disability	388015	RTL1	ORPHA:254531
HP:0001249	Intellectual disability	388015	RTL1	ORPHA:254525
HP:0001249	Intellectual disability	388015	RTL1	ORPHA:96184
HP:0001249	Intellectual disability	8788	DLK1	ORPHA:254531
HP:0001249	Intellectual disability	8788	DLK1	ORPHA:254525
HP:0001249	Intellectual disability	8788	DLK1	ORPHA:96184
HP:0001249	Intellectual disability	55384	MEG3	ORPHA:254531
HP:0001249	Intellectual disability	55384	MEG3	ORPHA:254525
HP:0001249	Intellectual disability	55384	MEG3	ORPHA:96184
HP:0001249	Intellectual disability	3912	LAMB1	OMIM:615191
HP:0001249	Intellectual disability	55217	TMLHE	OMIM:300872
HP:0001249	Intellectual disability	30000	TNPO2	OMIM:619556
HP:0001249	Intellectual disability	79705	LRRK1	OMIM:615198
HP:0001249	Intellectual disability	57102	FERRY3	OMIM:618221
HP:0001249	Intellectual disability	359	AQP2	OMIM:125800
HP:0001249	Intellectual disability	83548	COG3	OMIM:620546
HP:0001249	Intellectual disability	170689	ADAMTS15	OMIM:620545
HP:0001249	Intellectual disability	81570	CLPB	ORPHA:445038
HP:0001249	Intellectual disability	81570	CLPB	OMIM:616271
HP:0001249	Intellectual disability	5745	PTH1R	OMIM:600002
HP:0001249	Intellectual disability	7555	CNBP	OMIM:602668
HP:0001249	Intellectual disability	55869	HDAC8	OMIM:300882
HP:0001249	Intellectual disability	55869	HDAC8	ORPHA:3459
HP:0001249	Intellectual disability	55869	HDAC8	ORPHA:199
HP:0001249	Intellectual disability	1349	COX7B	OMIM:300887
HP:0001249	Intellectual disability	1349	COX7B	ORPHA:2556
HP:0001249	Intellectual disability	1349	COX7B	OMIM:309801
HP:0001249	Intellectual disability	4695	NDUFA2	OMIM:618235
HP:0001249	Intellectual disability	9342	SNAP29	ORPHA:66631
HP:0001249	Intellectual disability	79048	SECISBP2	ORPHA:171706
HP:0001249	Intellectual disability	2710	GK	OMIM:307030
HP:0001249	Intellectual disability	9126	SMC3	OMIM:610759
HP:0001249	Intellectual disability	9126	SMC3	ORPHA:199
HP:0001249	Intellectual disability	79944	L2HGDH	OMIM:236792
HP:0001249	Intellectual disability	10166	SLC25A15	OMIM:238970
HP:0001249	Intellectual disability	10166	SLC25A15	ORPHA:415
HP:0001249	Intellectual disability	1491	CTH	ORPHA:212
HP:0001249	Intellectual disability	1741	DLG3	OMIM:300850
HP:0001249	Intellectual disability	3192	HNRNPU	OMIM:617391
HP:0001249	Intellectual disability	57551	TAOK1	OMIM:619575
HP:0001249	Intellectual disability	56915	EXOSC5	OMIM:619576
HP:0001249	Intellectual disability	112939	NACC1	OMIM:617393
HP:0001249	Intellectual disability	2664	GDI1	OMIM:300849
HP:0001249	Intellectual disability	5831	PYCR1	OMIM:612940
HP:0001249	Intellectual disability	5831	PYCR1	OMIM:614438
HP:0001249	Intellectual disability	23476	BRD4	OMIM:620568
HP:0001249	Intellectual disability	23476	BRD4	ORPHA:199
HP:0001249	Intellectual disability	123263	MTFMT	OMIM:618248
HP:0001249	Intellectual disability	29920	PYCR2	ORPHA:481152
HP:0001249	Intellectual disability	9820	CUL7	OMIM:273750
HP:0001249	Intellectual disability	92344	GORAB	OMIM:231070
HP:0001249	Intellectual disability	23203	PMPCA	OMIM:213200
HP:0001249	Intellectual disability	23203	PMPCA	ORPHA:1170
HP:0001249	Intellectual disability	4864	NPC1	OMIM:257220
HP:0001249	Intellectual disability	2299	FOXI1	OMIM:274600
HP:0001249	Intellectual disability	2299	FOXI1	ORPHA:705
HP:0001249	Intellectual disability	5172	SLC26A4	OMIM:274600
HP:0001249	Intellectual disability	5172	SLC26A4	ORPHA:705
HP:0001249	Intellectual disability	6898	TAT	ORPHA:28378
HP:0001249	Intellectual disability	6898	TAT	OMIM:276600
HP:0001249	Intellectual disability	2898	GRIK2	OMIM:619580
HP:0001249	Intellectual disability	2898	GRIK2	OMIM:611092
HP:0001249	Intellectual disability	10483	SEC23B	ORPHA:201
HP:0001249	Intellectual disability	6390	SDHB	ORPHA:201
HP:0001249	Intellectual disability	6392	SDHD	ORPHA:201
HP:0001249	Intellectual disability	6391	SDHC	ORPHA:201
HP:0001249	Intellectual disability	205717	USF3	ORPHA:201
HP:0001249	Intellectual disability	100144748	KLLN	ORPHA:201
HP:0001249	Intellectual disability	80324	PUS1	OMIM:600462
HP:0001249	Intellectual disability	80324	PUS1	ORPHA:2598
HP:0001249	Intellectual disability	7319	UBE2A	OMIM:300860
HP:0001249	Intellectual disability	3172	HNF4A	ORPHA:263455
HP:0001249	Intellectual disability	10013	HDAC6	OMIM:300863
HP:0001249	Intellectual disability	80173	IFT74	OMIM:619582
HP:0001249	Intellectual disability	80173	IFT74	ORPHA:110
HP:0001249	Intellectual disability	80173	IFT74	ORPHA:475
HP:0001249	Intellectual disability	80173	IFT74	OMIM:617119
HP:0001249	Intellectual disability	26040	SETBP1	OMIM:616078
HP:0001249	Intellectual disability	26040	SETBP1	OMIM:269150
HP:0001249	Intellectual disability	2475	MTOR	ORPHA:457485
HP:0001249	Intellectual disability	2475	MTOR	OMIM:607341
HP:0001249	Intellectual disability	2475	MTOR	OMIM:616638
HP:0001249	Intellectual disability	6023	RMRP	OMIM:607095
HP:0001249	Intellectual disability	5573	PRKAR1A	OMIM:101800
HP:0001249	Intellectual disability	5573	PRKAR1A	ORPHA:950
HP:0001249	Intellectual disability	51715	RAB23	ORPHA:65759
HP:0001249	Intellectual disability	51715	RAB23	OMIM:201000
HP:0001249	Intellectual disability	1954	MEGF8	ORPHA:65759
HP:0001249	Intellectual disability	9244	CRLF1	OMIM:272430
HP:0001249	Intellectual disability	81620	CDT1	OMIM:613804
HP:0001249	Intellectual disability	81620	CDT1	ORPHA:2554
HP:0001249	Intellectual disability	50814	NSDHL	OMIM:300831
HP:0001249	Intellectual disability	50814	NSDHL	ORPHA:251383
HP:0001249	Intellectual disability	3975	LHX1	ORPHA:261265
HP:0001249	Intellectual disability	6928	HNF1B	ORPHA:261265
HP:0001249	Intellectual disability	6928	HNF1B	ORPHA:93111
HP:0001249	Intellectual disability	139411	PTCHD1	OMIM:300830
HP:0001249	Intellectual disability	10847	SRCAP	OMIM:619595
HP:0001249	Intellectual disability	10847	SRCAP	OMIM:136140
HP:0001249	Intellectual disability	79005	SCNM1	OMIM:620107
HP:0001249	Intellectual disability	4983	OPHN1	ORPHA:137831
HP:0001249	Intellectual disability	4983	OPHN1	OMIM:300486
HP:0001249	Intellectual disability	4810	NHS	ORPHA:627
HP:0001249	Intellectual disability	4796	TONSL	OMIM:271510
HP:0001249	Intellectual disability	2132	EXT2	ORPHA:52022
HP:0001249	Intellectual disability	1605	DAG1	OMIM:613818
HP:0001249	Intellectual disability	1605	DAG1	ORPHA:899
HP:0001249	Intellectual disability	113189	CHST14	OMIM:601776
HP:0001249	Intellectual disability	22978	NT5C2	ORPHA:320396
HP:0001249	Intellectual disability	22978	NT5C2	OMIM:613162
HP:0001249	Intellectual disability	6566	SLC16A1	OMIM:616095
HP:0001249	Intellectual disability	22983	MAST1	OMIM:618273
HP:0001249	Intellectual disability	6197	RPS6KA3	OMIM:300844
HP:0001249	Intellectual disability	6197	RPS6KA3	OMIM:303600
HP:0001249	Intellectual disability	6197	RPS6KA3	ORPHA:192
HP:0001249	Intellectual disability	23031	MAST3	OMIM:620115
HP:0001249	Intellectual disability	64093	SMOC1	OMIM:206920
HP:0001249	Intellectual disability	118924	FRA10AC1	OMIM:620113
HP:0001249	Intellectual disability	8911	CACNA1I	OMIM:620114
HP:0001249	Intellectual disability	745	MYRF	OMIM:618280
HP:0001249	Intellectual disability	9895	TECPR2	ORPHA:320385
HP:0001249	Intellectual disability	9895	TECPR2	OMIM:615031
HP:0001249	Intellectual disability	57020	VPS35L	OMIM:619135
HP:0001249	Intellectual disability	57020	VPS35L	ORPHA:7
HP:0001249	Intellectual disability	3739	KCNA4	OMIM:618284
HP:0001249	Intellectual disability	4781	NFIB	OMIM:618286
HP:0001249	Intellectual disability	9487	PIGL	OMIM:280000
HP:0001249	Intellectual disability	9487	PIGL	ORPHA:247262
HP:0001249	Intellectual disability	9487	PIGL	ORPHA:3474
HP:0001249	Intellectual disability	383	ARG1	OMIM:207800
HP:0001249	Intellectual disability	23259	DDHD2	ORPHA:320380
HP:0001249	Intellectual disability	23259	DDHD2	OMIM:615033
HP:0001249	Intellectual disability	22800	RRAS2	ORPHA:648
HP:0001249	Intellectual disability	867	CBL	ORPHA:648
HP:0001249	Intellectual disability	8216	LZTR1	ORPHA:648
HP:0001249	Intellectual disability	8216	LZTR1	OMIM:605275
HP:0001249	Intellectual disability	6016	RIT1	ORPHA:648
HP:0001249	Intellectual disability	6016	RIT1	OMIM:615355
HP:0001249	Intellectual disability	6237	RRAS	ORPHA:648
HP:0001249	Intellectual disability	5894	RAF1	ORPHA:648
HP:0001249	Intellectual disability	5894	RAF1	OMIM:611553
HP:0001249	Intellectual disability	22808	MRAS	ORPHA:648
HP:0001249	Intellectual disability	200734	SPRED2	ORPHA:648
HP:0001249	Intellectual disability	4893	NRAS	ORPHA:648
HP:0001249	Intellectual disability	4893	NRAS	OMIM:163200
HP:0001249	Intellectual disability	4893	NRAS	ORPHA:2612
HP:0001249	Intellectual disability	6655	SOS2	ORPHA:648
HP:0001249	Intellectual disability	5922	RASA2	ORPHA:648
HP:0001249	Intellectual disability	79644	SRD5A3	ORPHA:324737
HP:0001249	Intellectual disability	79644	SRD5A3	OMIM:612379
HP:0001249	Intellectual disability	27161	AGO2	OMIM:619149
HP:0001249	Intellectual disability	221692	PHACTR1	OMIM:618298
HP:0001249	Intellectual disability	8517	IKBKG	OMIM:308300
HP:0001249	Intellectual disability	8517	IKBKG	ORPHA:464
HP:0001249	Intellectual disability	2690	GHR	ORPHA:633
HP:0001249	Intellectual disability	11005	SPINK5	ORPHA:634
HP:0001249	Intellectual disability	11198	SUPT16H	ORPHA:261229
HP:0001249	Intellectual disability	11198	SUPT16H	OMIM:619480
HP:0001249	Intellectual disability	57680	CHD8	ORPHA:261229
HP:0001249	Intellectual disability	57680	CHD8	OMIM:615032
HP:0001249	Intellectual disability	4594	MMUT	ORPHA:289916
HP:0001249	Intellectual disability	4594	MMUT	ORPHA:79312
HP:0001249	Intellectual disability	7337	UBE3A	ORPHA:238446
HP:0001249	Intellectual disability	7337	UBE3A	ORPHA:98795
HP:0001249	Intellectual disability	25970	SH2B1	ORPHA:261222
HP:0001249	Intellectual disability	25970	SH2B1	ORPHA:261197
HP:0001249	Intellectual disability	3763	KCNJ6	ORPHA:435628
HP:0001249	Intellectual disability	341640	FREM2	ORPHA:2052
HP:0001249	Intellectual disability	23426	GRIP1	ORPHA:2052
HP:0001249	Intellectual disability	10262	SF3B4	OMIM:154400
HP:0001249	Intellectual disability	23019	CNOT1	OMIM:619033
HP:0001249	Intellectual disability	23556	PIGN	ORPHA:2059
HP:0001249	Intellectual disability	23556	PIGN	OMIM:614080
HP:0001249	Intellectual disability	145173	B3GLCT	ORPHA:709
HP:0001249	Intellectual disability	55325	UFSP2	OMIM:620028
HP:0001249	Intellectual disability	10274	STAG1	ORPHA:502434
HP:0001249	Intellectual disability	10274	STAG1	OMIM:617635
HP:0001249	Intellectual disability	4774	NFIA	OMIM:613735
HP:0001249	Intellectual disability	4774	NFIA	ORPHA:401986
HP:0001249	Intellectual disability	10992	SF3B2	OMIM:164210
HP:0001249	Intellectual disability	8496	PPFIBP1	OMIM:620024
HP:0001249	Intellectual disability	118987	PDZD8	OMIM:620021
HP:0001249	Intellectual disability	1299	COL9A3	OMIM:620022
HP:0001249	Intellectual disability	501	ALDH7A1	OMIM:266100
HP:0001249	Intellectual disability	501	ALDH7A1	ORPHA:3006
HP:0001249	Intellectual disability	49855	SCAPER	OMIM:618195
HP:0001249	Intellectual disability	49855	SCAPER	ORPHA:110
HP:0001249	Intellectual disability	6335	SCN9A	OMIM:243000
HP:0001249	Intellectual disability	10472	ZBTB18	ORPHA:36367
HP:0001249	Intellectual disability	10472	ZBTB18	OMIM:612337
HP:0001249	Intellectual disability	51204	TACO1	OMIM:619052
HP:0001249	Intellectual disability	1137	CHRNA4	OMIM:600513
HP:0001249	Intellectual disability	9739	SETD1A	OMIM:619056
HP:0001249	Intellectual disability	191	AHCY	OMIM:613752
HP:0001249	Intellectual disability	340024	SLC6A19	OMIM:234500
HP:0001249	Intellectual disability	340024	SLC6A19	ORPHA:2116
HP:0001249	Intellectual disability	84823	LMNB2	ORPHA:79087
HP:0001249	Intellectual disability	10000	AKT3	OMIM:615937
HP:0001249	Intellectual disability	23732	FRRS1L	ORPHA:725
HP:0001249	Intellectual disability	10015	PDCD6IP	OMIM:620047
HP:0001249	Intellectual disability	8289	ARID1A	OMIM:614607
HP:0001249	Intellectual disability	6598	SMARCB1	OMIM:614608
HP:0001249	Intellectual disability	6597	SMARCA4	OMIM:614609
HP:0001249	Intellectual disability	259232	NALCN	ORPHA:562528
HP:0001249	Intellectual disability	84334	COA8	OMIM:619061
HP:0001249	Intellectual disability	84334	COA8	ORPHA:436271
HP:0001249	Intellectual disability	4212	MEIS2	OMIM:600987
HP:0001249	Intellectual disability	4212	MEIS2	ORPHA:261190
HP:0001249	Intellectual disability	26053	AUTS2	ORPHA:352490
HP:0001249	Intellectual disability	26053	AUTS2	OMIM:615834
HP:0001249	Intellectual disability	79813	EHMT1	OMIM:610253
HP:0001249	Intellectual disability	79813	EHMT1	ORPHA:261652
HP:0001249	Intellectual disability	79813	EHMT1	ORPHA:96147
HP:0001249	Intellectual disability	10352	WARS2	ORPHA:572798
HP:0001249	Intellectual disability	10352	WARS2	OMIM:617710
HP:0001249	Intellectual disability	10352	WARS2	OMIM:619738
HP:0001249	Intellectual disability	5144	PDE4D	OMIM:614613
HP:0001249	Intellectual disability	5144	PDE4D	ORPHA:439822
HP:0001249	Intellectual disability	5144	PDE4D	ORPHA:950
HP:0001249	Intellectual disability	124512	METTL23	OMIM:615942
HP:0001249	Intellectual disability	657	BMPR1A	ORPHA:79076
HP:0001249	Intellectual disability	10382	TUBB4A	OMIM:612438
HP:0001249	Intellectual disability	5230	PGK1	ORPHA:713
HP:0001249	Intellectual disability	5230	PGK1	OMIM:300653
HP:0001249	Intellectual disability	3265	HRAS	OMIM:218040
HP:0001249	Intellectual disability	3265	HRAS	OMIM:163200
HP:0001249	Intellectual disability	3265	HRAS	ORPHA:2612
HP:0001249	Intellectual disability	3265	HRAS	ORPHA:3071
HP:0001249	Intellectual disability	7490	WT1	OMIM:194072
HP:0001249	Intellectual disability	7490	WT1	ORPHA:893
HP:0001249	Intellectual disability	5091	PC	OMIM:266150
HP:0001249	Intellectual disability	4035	LRP1	OMIM:604093
HP:0001249	Intellectual disability	6660	SOX5	OMIM:616803
HP:0001249	Intellectual disability	6660	SOX5	ORPHA:313892
HP:0001249	Intellectual disability	81031	SLC2A10	ORPHA:3342
HP:0001249	Intellectual disability	81031	SLC2A10	OMIM:208050
HP:0001249	Intellectual disability	22859	ADGRL1	OMIM:620065
HP:0001249	Intellectual disability	83475	DOHH	OMIM:620066
HP:0001249	Intellectual disability	6609	SMPD1	OMIM:257200
HP:0001249	Intellectual disability	6609	SMPD1	ORPHA:77293
HP:0001249	Intellectual disability	92667	MGME1	ORPHA:352447
HP:0001249	Intellectual disability	92667	MGME1	OMIM:615084
HP:0001249	Intellectual disability	58508	KMT2C	ORPHA:261652
HP:0001249	Intellectual disability	58508	KMT2C	OMIM:617768
HP:0001249	Intellectual disability	4089	SMAD4	OMIM:139210
HP:0001249	Intellectual disability	4089	SMAD4	ORPHA:2588
HP:0001249	Intellectual disability	255928	SYT14	ORPHA:284271
HP:0001249	Intellectual disability	554	AVPR2	OMIM:304800
HP:0001249	Intellectual disability	26227	PHGDH	OMIM:601815
HP:0001249	Intellectual disability	1654	DDX3X	ORPHA:3338
HP:0001249	Intellectual disability	1654	DDX3X	OMIM:300958
HP:0001249	Intellectual disability	1654	DDX3X	ORPHA:457260
HP:0001249	Intellectual disability	7443	VRK1	OMIM:607596
HP:0001249	Intellectual disability	2006	ELN	OMIM:194050
HP:0001249	Intellectual disability	2006	ELN	ORPHA:904
HP:0001249	Intellectual disability	51085	MLXIPL	OMIM:194050
HP:0001249	Intellectual disability	3178	HNRNPA1	ORPHA:52430
HP:0001249	Intellectual disability	7415	VCP	ORPHA:52430
HP:0001249	Intellectual disability	3181	HNRNPA2B1	ORPHA:52430
HP:0001249	Intellectual disability	55691	FRMD4A	OMIM:616819
HP:0001249	Intellectual disability	10430	TMEM147	OMIM:620075
HP:0001249	Intellectual disability	3187	HNRNPH1	OMIM:620083
HP:0001249	Intellectual disability	11152	WDR45	OMIM:300894
HP:0001249	Intellectual disability	11152	WDR45	ORPHA:329284
HP:0001249	Intellectual disability	22880	MORC2	OMIM:619090
HP:0001249	Intellectual disability	22880	MORC2	ORPHA:466768
HP:0001249	Intellectual disability	11117	EMILIN1	OMIM:620080
HP:0001249	Intellectual disability	4677	NARS1	OMIM:619091
HP:0001249	Intellectual disability	4677	NARS1	OMIM:619092
HP:0001249	Intellectual disability	64220	STRA6	ORPHA:2470
HP:0001249	Intellectual disability	7477	WNT7B	ORPHA:2470
HP:0001249	Intellectual disability	5915	RARB	ORPHA:2470
HP:0001249	Intellectual disability	5915	RARB	OMIM:615524
HP:0001249	Intellectual disability	7355	SLC35A2	OMIM:300896
HP:0001249	Intellectual disability	7355	SLC35A2	ORPHA:356961
HP:0001249	Intellectual disability	4488	MSX2	ORPHA:60015
HP:0001249	Intellectual disability	4488	MSX2	OMIM:604757
HP:0001249	Intellectual disability	9147	NEMF	OMIM:619099
HP:0001249	Intellectual disability	8195	MKKS	ORPHA:2473
HP:0001249	Intellectual disability	8195	MKKS	ORPHA:110
HP:0001249	Intellectual disability	8195	MKKS	OMIM:605231
HP:0001249	Intellectual disability	79791	FBXO31	OMIM:615979
HP:0001249	Intellectual disability	3954	LETM1	OMIM:620089
HP:0001249	Intellectual disability	51750	RTEL1	ORPHA:3322
HP:0001249	Intellectual disability	65057	ACD	ORPHA:3322
HP:0001249	Intellectual disability	5073	PARN	ORPHA:3322
HP:0001249	Intellectual disability	7015	TERT	ORPHA:3322
HP:0001249	Intellectual disability	26277	TINF2	ORPHA:3322
HP:0001249	Intellectual disability	1736	DKC1	ORPHA:3322
HP:0001249	Intellectual disability	1736	DKC1	OMIM:305000
HP:0001249	Intellectual disability	84978	FRMD5	OMIM:620094
HP:0001249	Intellectual disability	23636	NUP62	OMIM:271930
HP:0001249	Intellectual disability	54413	NLGN3	OMIM:300425
HP:0001249	Intellectual disability	10159	ATP6AP2	OMIM:300423
HP:0001249	Intellectual disability	10159	ATP6AP2	ORPHA:93952
HP:0001249	Intellectual disability	113612	CYP2U1	ORPHA:320411
HP:0001249	Intellectual disability	113612	CYP2U1	OMIM:615030
HP:0001249	Intellectual disability	583	BBS2	OMIM:615981
HP:0001249	Intellectual disability	583	BBS2	ORPHA:110
HP:0001249	Intellectual disability	55212	BBS7	OMIM:615984
HP:0001249	Intellectual disability	55212	BBS7	ORPHA:110
HP:0001249	Intellectual disability	2703	GJA8	OMIM:612474
HP:0001249	Intellectual disability	2702	GJA5	OMIM:612474
HP:0001249	Intellectual disability	123016	TTC8	OMIM:615985
HP:0001249	Intellectual disability	123016	TTC8	ORPHA:110
HP:0001249	Intellectual disability	585	BBS4	OMIM:615982
HP:0001249	Intellectual disability	585	BBS4	ORPHA:110
HP:0001249	Intellectual disability	55690	PACS1	ORPHA:329224
HP:0001249	Intellectual disability	55690	PACS1	OMIM:615009
HP:0001249	Intellectual disability	51053	GMNN	OMIM:616835
HP:0001249	Intellectual disability	51053	GMNN	ORPHA:2554
HP:0001249	Intellectual disability	10664	CTCF	OMIM:615502
HP:0001249	Intellectual disability	10664	CTCF	ORPHA:363611
HP:0001249	Intellectual disability	27241	BBS9	OMIM:615986
HP:0001249	Intellectual disability	27241	BBS9	ORPHA:110
HP:0001249	Intellectual disability	2200	FBN1	ORPHA:2462
HP:0001249	Intellectual disability	6497	SKI	ORPHA:2462
HP:0001249	Intellectual disability	6497	SKI	ORPHA:1606
HP:0001249	Intellectual disability	6497	SKI	OMIM:182212
HP:0001249	Intellectual disability	3720	JARID2	OMIM:620098
HP:0001249	Intellectual disability	6938	TCF12	ORPHA:35099
HP:0001249	Intellectual disability	6938	TCF12	OMIM:619718
HP:0001249	Intellectual disability	91147	TMEM67	OMIM:615991
HP:0001249	Intellectual disability	91147	TMEM67	OMIM:610688
HP:0001249	Intellectual disability	91147	TMEM67	ORPHA:475
HP:0001249	Intellectual disability	6683	SPAST	ORPHA:100985
HP:0001249	Intellectual disability	6683	SPAST	OMIM:182601
HP:0001249	Intellectual disability	5193	PEX12	OMIM:266510
HP:0001249	Intellectual disability	92482	BBIP1	OMIM:615995
HP:0001249	Intellectual disability	92482	BBIP1	ORPHA:110
HP:0001249	Intellectual disability	11020	IFT27	OMIM:615996
HP:0001249	Intellectual disability	11020	IFT27	ORPHA:110
HP:0001249	Intellectual disability	10806	SDCCAG8	OMIM:615993
HP:0001249	Intellectual disability	10806	SDCCAG8	ORPHA:110
HP:0001249	Intellectual disability	29926	GMPPA	OMIM:615510
HP:0001249	Intellectual disability	29926	GMPPA	ORPHA:869
HP:0001249	Intellectual disability	54585	LZTFL1	OMIM:615994
HP:0001249	Intellectual disability	54585	LZTFL1	ORPHA:110
HP:0001249	Intellectual disability	22845	DOLK	ORPHA:91131
HP:0001249	Intellectual disability	411	ARSB	OMIM:253200
HP:0001249	Intellectual disability	57511	COG6	ORPHA:363523
HP:0001249	Intellectual disability	57511	COG6	OMIM:614576
HP:0001249	Intellectual disability	57511	COG6	OMIM:615328
HP:0001249	Intellectual disability	91179	SCARF2	OMIM:600920
HP:0001249	Intellectual disability	80207	OPA3	ORPHA:67047
HP:0001249	Intellectual disability	125988	MICOS13	ORPHA:67047
HP:0001249	Intellectual disability	56997	COQ8A	OMIM:612016
HP:0001249	Intellectual disability	3920	LAMP2	ORPHA:34587
HP:0001249	Intellectual disability	3920	LAMP2	OMIM:300257
HP:0001249	Intellectual disability	26224	FBXL3	OMIM:606220
HP:0001249	Intellectual disability	4204	MECP2	OMIM:300055
HP:0001249	Intellectual disability	4204	MECP2	OMIM:300496
HP:0001249	Intellectual disability	4204	MECP2	ORPHA:3095
HP:0001249	Intellectual disability	10265	IRX5	OMIM:611174
HP:0001249	Intellectual disability	11253	MAN1B1	OMIM:614202
HP:0001249	Intellectual disability	11253	MAN1B1	ORPHA:397941
HP:0001249	Intellectual disability	10841	FTCD	OMIM:229100
HP:0001249	Intellectual disability	5925	RB1	ORPHA:1587
HP:0001249	Intellectual disability	7874	USP7	OMIM:616863
HP:0001249	Intellectual disability	7874	USP7	ORPHA:500055
HP:0001249	Intellectual disability	29940	DSE	OMIM:615539
HP:0001249	Intellectual disability	1641	DCX	OMIM:300067
HP:0001249	Intellectual disability	1105	CHD1	ORPHA:529965
HP:0001249	Intellectual disability	1105	CHD1	OMIM:617682
HP:0001249	Intellectual disability	3758	KCNJ1	OMIM:241200
HP:0001249	Intellectual disability	547	KIF1A	OMIM:614213
HP:0001249	Intellectual disability	547	KIF1A	OMIM:614255
HP:0001249	Intellectual disability	23065	EMC1	OMIM:616875
HP:0001249	Intellectual disability	8884	SLC5A6	OMIM:619903
HP:0001249	Intellectual disability	128989	TANGO2	OMIM:616878
HP:0001249	Intellectual disability	128989	TANGO2	ORPHA:480864
HP:0001249	Intellectual disability	79633	FAT4	OMIM:615546
HP:0001249	Intellectual disability	79633	FAT4	ORPHA:2136
HP:0001249	Intellectual disability	55644	OSGEP	OMIM:617729
HP:0001249	Intellectual disability	4644	MYO5A	ORPHA:79476
HP:0001249	Intellectual disability	4644	MYO5A	ORPHA:33445
HP:0001249	Intellectual disability	4644	MYO5A	OMIM:214450
HP:0001249	Intellectual disability	7074	TIAM1	OMIM:619908
HP:0001249	Intellectual disability	8200	GDF5	OMIM:200700
HP:0001249	Intellectual disability	340075	ARSI	ORPHA:401815
HP:0001249	Intellectual disability	112858	TP53RK	OMIM:617730
HP:0001249	Intellectual disability	23443	SLC35A3	OMIM:615553
HP:0001249	Intellectual disability	51002	TPRKB	OMIM:617731
HP:0001249	Intellectual disability	490	ATP2B1	OMIM:619910
HP:0001249	Intellectual disability	5293	PIK3CD	ORPHA:221139
HP:0001249	Intellectual disability	90417	KNSTRN	ORPHA:221139
HP:0001249	Intellectual disability	6925	TCF4	ORPHA:2896
HP:0001249	Intellectual disability	6857	SYT1	ORPHA:522077
HP:0001249	Intellectual disability	6608	SMO	ORPHA:1553
HP:0001249	Intellectual disability	2890	GRIA1	OMIM:619927
HP:0001249	Intellectual disability	54805	CNNM2	OMIM:616418
HP:0001249	Intellectual disability	2068	ERCC2	ORPHA:220295
HP:0001249	Intellectual disability	2068	ERCC2	OMIM:601675
HP:0001249	Intellectual disability	2068	ERCC2	OMIM:278730
HP:0001249	Intellectual disability	2073	ERCC5	ORPHA:220295
HP:0001249	Intellectual disability	2071	ERCC3	ORPHA:220295
HP:0001249	Intellectual disability	2071	ERCC3	OMIM:616390
HP:0001249	Intellectual disability	2071	ERCC3	OMIM:610651
HP:0001249	Intellectual disability	55164	SHQ1	OMIM:619921
HP:0001249	Intellectual disability	6591	SNAI2	ORPHA:2884
HP:0001249	Intellectual disability	3815	KIT	ORPHA:2884
HP:0001249	Intellectual disability	8241	RBM10	ORPHA:2886
HP:0001249	Intellectual disability	9320	TRIP12	OMIM:617752
HP:0001249	Intellectual disability	5879	RAC1	OMIM:617751
HP:0001249	Intellectual disability	5879	RAC1	ORPHA:500159
HP:0001249	Intellectual disability	5538	PPT1	OMIM:256730
HP:0001249	Intellectual disability	1663	DDX11	OMIM:613398
HP:0001249	Intellectual disability	5455	POU3F3	OMIM:618604
HP:0001249	Intellectual disability	2186	BPTF	OMIM:617755
HP:0001249	Intellectual disability	1203	CLN5	OMIM:256731
HP:0001249	Intellectual disability	2990	GUSB	OMIM:253220
HP:0001249	Intellectual disability	2990	GUSB	ORPHA:584
HP:0001249	Intellectual disability	9439	MED23	OMIM:614249
HP:0001249	Intellectual disability	9907	AP5Z1	ORPHA:306511
HP:0001249	Intellectual disability	9907	AP5Z1	OMIM:613647
HP:0001249	Intellectual disability	3034	HAL	OMIM:235800
HP:0001249	Intellectual disability	10082	GPC6	ORPHA:93329
HP:0001249	Intellectual disability	406932	MIR140	OMIM:618618
HP:0001249	Intellectual disability	776	CACNA1D	OMIM:615474
HP:0001249	Intellectual disability	6659	SOX4	OMIM:618506
HP:0001249	Intellectual disability	55823	VPS11	ORPHA:466934
HP:0001249	Intellectual disability	55823	VPS11	OMIM:616683
HP:0001249	Intellectual disability	4897	NRCAM	OMIM:619833
HP:0001249	Intellectual disability	5927	KDM5A	OMIM:620820
HP:0001249	Intellectual disability	91801	ALKBH8	OMIM:618504
HP:0001249	Intellectual disability	4125	MAN2B1	ORPHA:309282
HP:0001249	Intellectual disability	4125	MAN2B1	OMIM:248500
HP:0001249	Intellectual disability	23498	HAAO	OMIM:617660
HP:0001249	Intellectual disability	24137	KIF4A	OMIM:300923
HP:0001249	Intellectual disability	9578	CDC42BPB	OMIM:619841
HP:0001249	Intellectual disability	80816	ASXL3	OMIM:615485
HP:0001249	Intellectual disability	80816	ASXL3	ORPHA:352577
HP:0001249	Intellectual disability	64412	GZF1	OMIM:617662
HP:0001249	Intellectual disability	57582	KCNT1	OMIM:615005
HP:0001249	Intellectual disability	1841	DTYMK	OMIM:619847
HP:0001249	Intellectual disability	8239	USP9X	OMIM:300919
HP:0001249	Intellectual disability	8239	USP9X	OMIM:300968
HP:0001249	Intellectual disability	3149	HMGB3	OMIM:300915
HP:0001249	Intellectual disability	57082	KNL1	OMIM:604321
HP:0001249	Intellectual disability	55636	CHD7	ORPHA:138
HP:0001249	Intellectual disability	55636	CHD7	OMIM:214800
HP:0001249	Intellectual disability	9723	SEMA3E	ORPHA:138
HP:0001249	Intellectual disability	55650	PIGV	OMIM:239300
HP:0001249	Intellectual disability	55650	PIGV	ORPHA:247262
HP:0001249	Intellectual disability	284403	WDR62	OMIM:604317
HP:0001249	Intellectual disability	288	ANK3	OMIM:615493
HP:0001249	Intellectual disability	7345	UCHL1	OMIM:615491
HP:0001249	Intellectual disability	64834	ELOVL1	OMIM:618527
HP:0001249	Intellectual disability	2770	GNAI1	OMIM:619854
HP:0001249	Intellectual disability	79140	CCDC28B	OMIM:209900
HP:0001249	Intellectual disability	582	BBS1	OMIM:209900
HP:0001249	Intellectual disability	582	BBS1	ORPHA:110
HP:0001249	Intellectual disability	23347	SMCHD1	OMIM:603457
HP:0001249	Intellectual disability	10087	CERT1	OMIM:616351
HP:0001249	Intellectual disability	5528	PPP2R5D	OMIM:616355
HP:0001249	Intellectual disability	57231	SNX14	OMIM:616354
HP:0001249	Intellectual disability	23327	NEDD4L	OMIM:617201
HP:0001249	Intellectual disability	1428	CRYM	OMIM:616357
HP:0001249	Intellectual disability	1201	CLN3	OMIM:204200
HP:0001249	Intellectual disability	11193	WBP4	OMIM:620852
HP:0001249	Intellectual disability	23007	PLCH1	ORPHA:93925
HP:0001249	Intellectual disability	4929	NR4A2	ORPHA:1617
HP:0001249	Intellectual disability	4929	NR4A2	ORPHA:98808
HP:0001249	Intellectual disability	10716	TBR1	ORPHA:1617
HP:0001249	Intellectual disability	26834	RNU4-2	OMIM:620851
HP:0001249	Intellectual disability	51057	WDPCP	ORPHA:110
HP:0001249	Intellectual disability	132320	SCLT1	ORPHA:110
HP:0001249	Intellectual disability	84984	CEP19	ORPHA:110
HP:0001249	Intellectual disability	84984	CEP19	OMIM:615703
HP:0001249	Intellectual disability	22954	TRIM32	ORPHA:110
HP:0001249	Intellectual disability	79738	BBS10	ORPHA:110
HP:0001249	Intellectual disability	166379	BBS12	ORPHA:110
HP:0001249	Intellectual disability	157657	CFAP418	ORPHA:110
HP:0001249	Intellectual disability	129880	BBS5	ORPHA:110
HP:0001249	Intellectual disability	5518	PPP2R1A	OMIM:616362
HP:0001249	Intellectual disability	5518	PPP2R1A	ORPHA:457284
HP:0001249	Intellectual disability	26038	CHD5	OMIM:619873
HP:0001249	Intellectual disability	91574	MTRFR	OMIM:615035
HP:0001249	Intellectual disability	23126	POGZ	OMIM:616364
HP:0001249	Intellectual disability	23126	POGZ	ORPHA:468678
HP:0001249	Intellectual disability	8558	CDK10	OMIM:617694
HP:0001249	Intellectual disability	51692	CPSF3	OMIM:619876
HP:0001249	Intellectual disability	3098	HK1	OMIM:618547
HP:0001249	Intellectual disability	5590	PRKCZ	ORPHA:1606
HP:0001249	Intellectual disability	23013	SPEN	ORPHA:1606
HP:0001249	Intellectual disability	23013	SPEN	OMIM:619312
HP:0001249	Intellectual disability	8510	MMP23B	ORPHA:1606
HP:0001249	Intellectual disability	7798	LUZP1	ORPHA:1606
HP:0001249	Intellectual disability	10630	PDPN	ORPHA:1606
HP:0001249	Intellectual disability	10277	UBE4B	ORPHA:1606
HP:0001249	Intellectual disability	8514	KCNAB2	ORPHA:1606
HP:0001249	Intellectual disability	63976	PRDM16	ORPHA:1606
HP:0001249	Intellectual disability	54897	CASZ1	ORPHA:1606
HP:0001249	Intellectual disability	1859	DYRK1A	ORPHA:464311
HP:0001249	Intellectual disability	1859	DYRK1A	ORPHA:268261
HP:0001249	Intellectual disability	285362	SUMF1	ORPHA:585
HP:0001249	Intellectual disability	285362	SUMF1	OMIM:272200
HP:0001249	Intellectual disability	55210	ATAD3A	ORPHA:496790
HP:0001249	Intellectual disability	55210	ATAD3A	OMIM:617183
HP:0001249	Intellectual disability	9276	COPB2	OMIM:619884
HP:0001249	Intellectual disability	83479	DDX59	ORPHA:2919
HP:0001249	Intellectual disability	83479	DDX59	OMIM:174300
HP:0001249	Intellectual disability	56098	PCDHGC4	OMIM:619880
HP:0001249	Intellectual disability	10531	PITRM1	OMIM:619405
HP:0001249	Intellectual disability	57192	MCOLN1	ORPHA:578
HP:0001249	Intellectual disability	57192	MCOLN1	OMIM:252650
HP:0001249	Intellectual disability	1749	DLX5	OMIM:183600
HP:0001249	Intellectual disability	64919	BCL11B	OMIM:617237
HP:0001249	Intellectual disability	64919	BCL11B	OMIM:618092
HP:0001249	Intellectual disability	2720	GLB1	OMIM:230500
HP:0001249	Intellectual disability	2720	GLB1	OMIM:253010
HP:0001249	Intellectual disability	2720	GLB1	ORPHA:79255
HP:0001249	Intellectual disability	374969	SVBP	OMIM:618569
HP:0001249	Intellectual disability	84295	PHF6	ORPHA:127
HP:0001249	Intellectual disability	617	BCS1L	ORPHA:123
HP:0001249	Intellectual disability	617	BCS1L	OMIM:262000
HP:0001249	Intellectual disability	617	BCS1L	OMIM:124000
HP:0001249	Intellectual disability	404672	GTF2H5	OMIM:616395
HP:0001249	Intellectual disability	171546	SPTSSA	OMIM:620416
HP:0001249	Intellectual disability	171546	SPTSSA	OMIM:620417
HP:0001249	Intellectual disability	7227	TRPS1	OMIM:190350
HP:0001249	Intellectual disability	7227	TRPS1	OMIM:190351
HP:0001249	Intellectual disability	7227	TRPS1	ORPHA:502
HP:0001249	Intellectual disability	7046	TGFBR1	OMIM:609192
HP:0001249	Intellectual disability	1642	DDB1	OMIM:619426
HP:0001249	Intellectual disability	389827	MYMK	OMIM:254940
HP:0001249	Intellectual disability	389827	MYMK	ORPHA:1358
HP:0001249	Intellectual disability	4126	MANBA	ORPHA:118
HP:0001249	Intellectual disability	4126	MANBA	OMIM:248510
HP:0001249	Intellectual disability	410	ARSA	OMIM:250100
HP:0001249	Intellectual disability	9949	AMMECR1	OMIM:300990
HP:0001249	Intellectual disability	9361	LONP1	OMIM:600373
HP:0001249	Intellectual disability	22827	PUF60	ORPHA:508498
HP:0001249	Intellectual disability	6134	RPL10	OMIM:300998
HP:0001249	Intellectual disability	160418	TMTC3	OMIM:617255
HP:0001249	Intellectual disability	123606	NIPA1	ORPHA:261183
HP:0001249	Intellectual disability	7283	TUBG1	ORPHA:261183
HP:0001249	Intellectual disability	81614	NIPA2	ORPHA:261183
HP:0001249	Intellectual disability	8473	OGT	OMIM:300997
HP:0001249	Intellectual disability	53371	NUP54	OMIM:620427
HP:0001249	Intellectual disability	6418	SET	OMIM:618106
HP:0001249	Intellectual disability	5309	PITX3	OMIM:610623
HP:0001249	Intellectual disability	1120	CHKB	OMIM:602541
HP:0001249	Intellectual disability	7707	ZNF148	OMIM:617260
HP:0001249	Intellectual disability	6299	SALL1	OMIM:107480
HP:0001249	Intellectual disability	6299	SALL1	ORPHA:857
HP:0001249	Intellectual disability	10300	KATNB1	ORPHA:89844
HP:0001249	Intellectual disability	54820	NDE1	ORPHA:89844
HP:0001249	Intellectual disability	57520	HECW2	OMIM:617268
HP:0001249	Intellectual disability	5053	PAH	OMIM:261600
HP:0001249	Intellectual disability	5053	PAH	ORPHA:2209
HP:0001249	Intellectual disability	4952	OCRL	ORPHA:534
HP:0001249	Intellectual disability	4952	OCRL	OMIM:309000
HP:0001249	Intellectual disability	55249	YY1AP1	OMIM:602531
HP:0001249	Intellectual disability	147409	DSG4	ORPHA:573
HP:0001249	Intellectual disability	3892	KRT86	ORPHA:573
HP:0001249	Intellectual disability	3889	KRT83	ORPHA:573
HP:0001249	Intellectual disability	3887	KRT81	ORPHA:573
HP:0001249	Intellectual disability	55250	ELP2	OMIM:617270
HP:0001249	Intellectual disability	3039	HBA1	ORPHA:98791
HP:0001249	Intellectual disability	3040	HBA2	ORPHA:98791
HP:0001249	Intellectual disability	8888	MCM3AP	OMIM:618124
HP:0001249	Intellectual disability	51132	RLIM	OMIM:300978
HP:0001249	Intellectual disability	27341	RRP7A	OMIM:619453
HP:0001249	Intellectual disability	361	AQP4	OMIM:620448
HP:0001249	Intellectual disability	3376	IARS1	ORPHA:541423
HP:0001249	Intellectual disability	3376	IARS1	OMIM:617093
HP:0001249	Intellectual disability	9675	TTI1	OMIM:620445
HP:0001249	Intellectual disability	1312	COMT	ORPHA:567
HP:0001249	Intellectual disability	221037	JMJD1C	ORPHA:567
HP:0001249	Intellectual disability	2812	GP1BB	ORPHA:567
HP:0001249	Intellectual disability	6239	RREB1	ORPHA:567
HP:0001249	Intellectual disability	6899	TBX1	ORPHA:567
HP:0001249	Intellectual disability	6899	TBX1	ORPHA:1727
HP:0001249	Intellectual disability	6899	TBX1	OMIM:192430
HP:0001249	Intellectual disability	6899	TBX1	OMIM:188400
HP:0001249	Intellectual disability	7290	HIRA	ORPHA:567
HP:0001249	Intellectual disability	9632	SEC24C	ORPHA:567
HP:0001249	Intellectual disability	7353	UFD1	ORPHA:567
HP:0001249	Intellectual disability	421	ARVCF	ORPHA:567
HP:0001249	Intellectual disability	1009	CDH11	OMIM:211380
HP:0001249	Intellectual disability	1009	CDH11	OMIM:619736
HP:0001249	Intellectual disability	5077	PAX3	OMIM:148820
HP:0001249	Intellectual disability	5077	PAX3	ORPHA:896
HP:0001249	Intellectual disability	112476	PRRT2	ORPHA:569
HP:0001249	Intellectual disability	112476	PRRT2	ORPHA:98811
HP:0001249	Intellectual disability	8260	NAA10	ORPHA:568
HP:0001249	Intellectual disability	8260	NAA10	OMIM:309800
HP:0001249	Intellectual disability	538	ATP7A	ORPHA:565
HP:0001249	Intellectual disability	538	ATP7A	ORPHA:198
HP:0001249	Intellectual disability	538	ATP7A	OMIM:309400
HP:0001249	Intellectual disability	80311	KLHL15	OMIM:300982
HP:0001249	Intellectual disability	6557	SLC12A1	OMIM:601678
HP:0001249	Intellectual disability	7809	BSND	OMIM:602522
HP:0001249	Intellectual disability	84892	POMGNT2	OMIM:618135
HP:0001249	Intellectual disability	84892	POMGNT2	ORPHA:899
HP:0001249	Intellectual disability	9758	FRMPD4	OMIM:300983
HP:0001249	Intellectual disability	389856	USP27X	OMIM:300984
HP:0001249	Intellectual disability	3188	HNRNPH2	OMIM:300986
HP:0001249	Intellectual disability	7253	TSHR	OMIM:609152
HP:0001249	Intellectual disability	38	ACAT1	OMIM:203750
HP:0001249	Intellectual disability	1974	EIF4A2	OMIM:620455
HP:0001249	Intellectual disability	4548	MTR	OMIM:250940
HP:0001249	Intellectual disability	6874	TAF4	OMIM:620450
HP:0001249	Intellectual disability	79736	TEFM	OMIM:620451
HP:0001249	Intellectual disability	11212	PLPBP	OMIM:617290
HP:0001249	Intellectual disability	11212	PLPBP	ORPHA:3006
HP:0001249	Intellectual disability	57498	KIDINS220	OMIM:617296
HP:0001249	Intellectual disability	57498	KIDINS220	ORPHA:521390
HP:0001249	Intellectual disability	57187	THOC2	OMIM:300957
HP:0001249	Intellectual disability	10526	IPO8	OMIM:619472
HP:0001249	Intellectual disability	55505	NOP10	OMIM:224230
HP:0001249	Intellectual disability	55651	NHP2	OMIM:224230
HP:0001249	Intellectual disability	55651	NHP2	OMIM:613987
HP:0001249	Intellectual disability	6711	SPTBN1	OMIM:619475
HP:0001249	Intellectual disability	527	ATP6V0C	OMIM:620465
HP:0001249	Intellectual disability	2317	FLNB	ORPHA:503
HP:0001249	Intellectual disability	2317	FLNB	OMIM:150250
HP:0001249	Intellectual disability	2131	EXT1	ORPHA:502
HP:0001249	Intellectual disability	5885	RAD21	ORPHA:502
HP:0001249	Intellectual disability	5885	RAD21	ORPHA:199
HP:0001249	Intellectual disability	405753	DUOXA2	OMIM:274900
HP:0001249	Intellectual disability	405753	DUOXA2	ORPHA:95716
HP:0001249	Intellectual disability	10682	EBP	OMIM:300960
HP:0001249	Intellectual disability	10682	EBP	ORPHA:401973
HP:0001249	Intellectual disability	136647	MPLKIP	OMIM:234050
HP:0001249	Intellectual disability	6872	TAF1	OMIM:300966
HP:0001249	Intellectual disability	6872	TAF1	ORPHA:480907
HP:0001249	Intellectual disability	374879	ZNF699	OMIM:619488
HP:0001249	Intellectual disability	4841	NONO	OMIM:300967
HP:0001249	Intellectual disability	8567	MADD	OMIM:619005
HP:0001249	Intellectual disability	28952	CCDC22	OMIM:300963
HP:0001249	Intellectual disability	28952	CCDC22	ORPHA:7
HP:0001249	Intellectual disability	79152	FA2H	ORPHA:171629
HP:0001249	Intellectual disability	79152	FA2H	OMIM:612319
HP:0001249	Intellectual disability	9373	PLAA	ORPHA:521426
HP:0001249	Intellectual disability	50485	SMARCAL1	OMIM:242900
HP:0001249	Intellectual disability	3516	RBPJ	ORPHA:974
HP:0001249	Intellectual disability	4851	NOTCH1	ORPHA:974
HP:0001249	Intellectual disability	57514	ARHGAP31	ORPHA:974
HP:0001249	Intellectual disability	57514	ARHGAP31	OMIM:100300
HP:0001249	Intellectual disability	57572	DOCK6	ORPHA:974
HP:0001249	Intellectual disability	285203	EOGT	ORPHA:974
HP:0001249	Intellectual disability	54567	DLL4	ORPHA:974
HP:0001249	Intellectual disability	407975	MIR17HG	ORPHA:391646
HP:0001249	Intellectual disability	26278	SACS	OMIM:270550
HP:0001249	Intellectual disability	80267	EDEM3	OMIM:619493
HP:0001249	Intellectual disability	2629	GBA1	ORPHA:2072
HP:0001249	Intellectual disability	84231	TRAF7	OMIM:618164
HP:0001249	Intellectual disability	7157	TP53	OMIM:618165
HP:0001249	Intellectual disability	10491	CRTAP	OMIM:610682
HP:0001249	Intellectual disability	203190	LGI3	OMIM:620007
HP:0001249	Intellectual disability	11043	MID2	OMIM:300928
HP:0001249	Intellectual disability	5468	PPARG	ORPHA:528
HP:0001249	Intellectual disability	284119	CAVIN1	ORPHA:528
HP:0001249	Intellectual disability	26580	BSCL2	ORPHA:528
HP:0001249	Intellectual disability	2353	FOS	ORPHA:528
HP:0001249	Intellectual disability	857	CAV1	ORPHA:528
HP:0001249	Intellectual disability	5498	PPOX	OMIM:620483
HP:0001249	Intellectual disability	5524	PTPA	OMIM:620482
HP:0001249	Intellectual disability	9897	WASHC5	ORPHA:7
HP:0001249	Intellectual disability	56896	DPYSL5	ORPHA:7
HP:0001249	Intellectual disability	3030	HADHA	ORPHA:5
HP:0001249	Intellectual disability	114034	TOE1	ORPHA:284339
HP:0001249	Intellectual disability	114034	TOE1	OMIM:614969
HP:0001249	Intellectual disability	9562	MINPP1	ORPHA:284339
HP:0001249	Intellectual disability	84842	HPDL	OMIM:619026
HP:0001249	Intellectual disability	79023	NUP37	OMIM:618179
HP:0001249	Intellectual disability	118429	ANTXR2	OMIM:228600
HP:0001249	Intellectual disability	25793	FBXO7	OMIM:260300
HP:0001249	Intellectual disability	55294	FBXW7	OMIM:620012
HP:0001249	Intellectual disability	9898	UBAP2L	OMIM:620494
HP:0001249	Intellectual disability	55129	ANO10	OMIM:613728
HP:0001249	Intellectual disability	6095	RORA	OMIM:618060
HP:0001249	Intellectual disability	5009	OTC	OMIM:311250
HP:0001249	Intellectual disability	57539	WDR35	OMIM:613610
HP:0001249	Intellectual disability	10466	COG5	OMIM:613612
HP:0001249	Intellectual disability	80232	WDR26	ORPHA:513456
HP:0001249	Intellectual disability	80232	WDR26	OMIM:617616
HP:0001249	Intellectual disability	51506	UFC1	OMIM:618076
HP:0001249	Intellectual disability	63916	ELMO2	ORPHA:3019
HP:0001249	Intellectual disability	4552	MTRR	ORPHA:2169
HP:0001249	Intellectual disability	80055	PGAP1	OMIM:615802
HP:0001249	Intellectual disability	84992	PIGY	ORPHA:247262
HP:0001249	Intellectual disability	93210	PGAP3	ORPHA:247262
HP:0001249	Intellectual disability	93210	PGAP3	OMIM:615716
HP:0001249	Intellectual disability	27315	PGAP2	ORPHA:247262
HP:0001249	Intellectual disability	8913	CACNA1G	OMIM:618087
HP:0001249	Intellectual disability	64207	IRF2BPL	OMIM:618088
HP:0001249	Intellectual disability	80204	FBXO11	OMIM:618089
HP:0001249	Intellectual disability	5119	CHMP1A	OMIM:614961
HP:0001249	Intellectual disability	3953	LEPR	OMIM:614963
HP:0001249	Intellectual disability	5238	PGM3	OMIM:615816
HP:0001249	Intellectual disability	23325	WASHC4	OMIM:615817
HP:0001249	Intellectual disability	57531	HACE1	ORPHA:464282
HP:0001249	Intellectual disability	57531	HACE1	OMIM:616756
HP:0001249	Intellectual disability	9839	ZEB2	ORPHA:261552
HP:0001249	Intellectual disability	9839	ZEB2	ORPHA:261537
HP:0001249	Intellectual disability	633	BGN	OMIM:300106
HP:0001249	Intellectual disability	113235	SLC46A1	OMIM:229050
HP:0001249	Intellectual disability	4036	LRP2	ORPHA:2143
HP:0001249	Intellectual disability	3756	KCNH1	ORPHA:3473
HP:0001249	Intellectual disability	3425	IDUA	OMIM:607014
HP:0001249	Intellectual disability	3425	IDUA	OMIM:607016
HP:0001249	Intellectual disability	3425	IDUA	ORPHA:93473
HP:0001249	Intellectual disability	54496	PRMT7	ORPHA:464288
HP:0001249	Intellectual disability	54496	PRMT7	OMIM:617157
HP:0001249	Intellectual disability	339453	TMEM240	ORPHA:98773
HP:0001249	Intellectual disability	339453	TMEM240	OMIM:607454
HP:0001249	Intellectual disability	593	BCKDHA	OMIM:248600
HP:0001249	Intellectual disability	5063	PAK3	OMIM:300558
HP:0001249	Intellectual disability	9508	ADAMTS3	ORPHA:2136
HP:0001249	Intellectual disability	6507	SLC1A3	ORPHA:2131
HP:0001249	Intellectual disability	90624	LYRM7	OMIM:615838
HP:0001249	Intellectual disability	493856	CISD2	ORPHA:3463
HP:0001249	Intellectual disability	7466	WFS1	ORPHA:3463
HP:0001249	Intellectual disability	7466	WFS1	OMIM:222300
HP:0001249	Intellectual disability	54499	TMCO1	OMIM:213980
HP:0001249	Intellectual disability	54499	TMCO1	ORPHA:1394
HP:0001249	Intellectual disability	64135	IFIH1	OMIM:615846
HP:0001249	Intellectual disability	8242	KDM5C	OMIM:300534
HP:0001249	Intellectual disability	27086	FOXP1	OMIM:613670
HP:0001249	Intellectual disability	57393	CLTRN	ORPHA:2116
HP:0001249	Intellectual disability	55275	VPS53	OMIM:615851
HP:0001249	Intellectual disability	440193	CCDC88C	OMIM:236600
HP:0001249	Intellectual disability	2146	EZH2	OMIM:277590
HP:0001249	Intellectual disability	2146	EZH2	ORPHA:3447
HP:0001249	Intellectual disability	7048	TGFBR2	OMIM:610168
HP:0001249	Intellectual disability	445	ASS1	OMIM:215700
HP:0001249	Intellectual disability	51067	YARS2	ORPHA:2598
HP:0001249	Intellectual disability	55023	PHIP	ORPHA:589905
HP:0001249	Intellectual disability	55023	PHIP	OMIM:617991
HP:0001249	Intellectual disability	29123	ANKRD11	OMIM:148050
HP:0001249	Intellectual disability	79228	THOC6	OMIM:613680
HP:0001249	Intellectual disability	51134	CEP83	OMIM:615862
HP:0001249	Intellectual disability	3679	ITGA7	OMIM:613204
HP:0001249	Intellectual disability	4976	OPA1	OMIM:210000
HP:0001249	Intellectual disability	54704	PDP1	OMIM:608782
HP:0001249	Intellectual disability	84181	CHD6	ORPHA:2108
HP:0001249	Intellectual disability	8600	TNFSF11	OMIM:259710
HP:0001249	Intellectual disability	2245	FGD1	OMIM:305400
HP:0001249	Intellectual disability	64116	SLC39A8	OMIM:616721
HP:0001249	Intellectual disability	5648	MASP1	OMIM:257920
HP:0001249	Intellectual disability	5648	MASP1	ORPHA:293843
HP:0001249	Intellectual disability	23394	ADNP	OMIM:615873
HP:0001249	Intellectual disability	55605	KIF21A	ORPHA:45358
HP:0001249	Intellectual disability	347733	TUBB2B	ORPHA:45358
HP:0001249	Intellectual disability	347733	TUBB2B	ORPHA:1766
HP:0001249	Intellectual disability	347733	TUBB2B	ORPHA:300573
HP:0001249	Intellectual disability	347733	TUBB2B	OMIM:610031
HP:0001249	Intellectual disability	7846	TUBA1A	ORPHA:45358
HP:0001249	Intellectual disability	401	PHOX2A	ORPHA:45358
HP:0001249	Intellectual disability	10381	TUBB3	ORPHA:45358
HP:0001249	Intellectual disability	10381	TUBB3	OMIM:614039
HP:0001249	Intellectual disability	10381	TUBB3	ORPHA:300570
HP:0001249	Intellectual disability	84570	COL25A1	ORPHA:45358
HP:0001249	Intellectual disability	1788	DNMT3A	OMIM:615879
HP:0001249	Intellectual disability	6948	TCN2	OMIM:275350
HP:0001249	Intellectual disability	79796	ALG9	OMIM:608776
HP:0001249	Intellectual disability	79796	ALG9	ORPHA:79328
HP:0001249	Intellectual disability	1729	DIAPH1	ORPHA:2573
HP:0001249	Intellectual disability	59	ACTA2	ORPHA:2573
HP:0001249	Intellectual disability	57674	RNF213	ORPHA:2573
HP:0001249	Intellectual disability	26115	TANC2	OMIM:618906
HP:0001249	Intellectual disability	55593	OTUD5	OMIM:301056
HP:0001249	Intellectual disability	3748	KCNC3	OMIM:605259
HP:0001249	Intellectual disability	1822	ATN1	OMIM:125370
HP:0001249	Intellectual disability	1822	ATN1	OMIM:618494
HP:0001249	Intellectual disability	4854	NOTCH3	OMIM:130720
HP:0001249	Intellectual disability	5160	PDHA1	OMIM:312170
HP:0001249	Intellectual disability	23291	FBXW11	OMIM:618914
HP:0001249	Intellectual disability	54101	RIPK4	ORPHA:1234
HP:0001249	Intellectual disability	998	CDC42	OMIM:616737
HP:0001249	Intellectual disability	998	CDC42	ORPHA:487796
HP:0001249	Intellectual disability	10982	MAPRE2	OMIM:616734
HP:0001249	Intellectual disability	10982	MAPRE2	ORPHA:2505
HP:0001249	Intellectual disability	5048	PAFAH1B1	OMIM:607432
HP:0001249	Intellectual disability	3176	HNMT	OMIM:616739
HP:0001249	Intellectual disability	2891	GRIA2	OMIM:618917
HP:0001249	Intellectual disability	4131	MAP1B	OMIM:618918
HP:0001249	Intellectual disability	4694	NDUFA1	OMIM:301020
HP:0001249	Intellectual disability	27235	COQ2	OMIM:607426
HP:0001249	Intellectual disability	1778	DYNC1H1	OMIM:614563
HP:0001249	Intellectual disability	5000	ORC4	ORPHA:2554
HP:0001249	Intellectual disability	23594	ORC6	ORPHA:2554
HP:0001249	Intellectual disability	8318	CDC45	ORPHA:2554
HP:0001249	Intellectual disability	990	CDC6	ORPHA:2554
HP:0001249	Intellectual disability	4998	ORC1	ORPHA:2554
HP:0001249	Intellectual disability	1000	CDH2	OMIM:618929
HP:0001249	Intellectual disability	55764	IFT122	OMIM:218330
HP:0001249	Intellectual disability	54539	NDUFB11	ORPHA:2556
HP:0001249	Intellectual disability	54539	NDUFB11	OMIM:309801
HP:0001249	Intellectual disability	3052	HCCS	ORPHA:2556
HP:0001249	Intellectual disability	3052	HCCS	OMIM:309801
HP:0001249	Intellectual disability	2304	FOXE1	ORPHA:1226
HP:0001249	Intellectual disability	60	ACTB	ORPHA:79107
HP:0001249	Intellectual disability	60	ACTB	OMIM:243310
HP:0001249	Intellectual disability	60	ACTB	ORPHA:2995
HP:0001249	Intellectual disability	84061	MAGT1	OMIM:301031
HP:0001249	Intellectual disability	10943	MSL3	OMIM:301032
HP:0001249	Intellectual disability	6638	SNRPN	OMIM:209850
HP:0001249	Intellectual disability	56479	KCNQ5	OMIM:617601
HP:0001249	Intellectual disability	23152	CIC	OMIM:617600
HP:0001249	Intellectual disability	9343	EFTUD2	ORPHA:79113
HP:0001249	Intellectual disability	84172	POLR1B	OMIM:618939
HP:0001249	Intellectual disability	6878	TAF6	ORPHA:199
HP:0001249	Intellectual disability	6878	TAF6	OMIM:617126
HP:0001249	Intellectual disability	157680	VPS13B	ORPHA:193
HP:0001249	Intellectual disability	157680	VPS13B	OMIM:216550
HP:0001249	Intellectual disability	71	ACTG1	OMIM:614583
HP:0001249	Intellectual disability	71	ACTG1	ORPHA:2995
HP:0001249	Intellectual disability	8270	LAGE3	OMIM:301006
HP:0001249	Intellectual disability	2517	FUCA1	OMIM:230000
HP:0001249	Intellectual disability	117581	TWIST2	OMIM:209885
HP:0001249	Intellectual disability	80781	COL18A1	OMIM:267750
HP:0001249	Intellectual disability	63932	STEEP1	OMIM:301013
HP:0001249	Intellectual disability	56910	STARD7	OMIM:607876
HP:0001249	Intellectual disability	26503	SLC17A5	OMIM:604369
HP:0001249	Intellectual disability	1718	DHCR24	ORPHA:35107
HP:0001249	Intellectual disability	114928	GPRASP2	OMIM:301018
HP:0001249	Intellectual disability	92335	STRADA	OMIM:611087
HP:0001249	Intellectual disability	80210	ARMC9	OMIM:617622
HP:0001249	Intellectual disability	80210	ARMC9	ORPHA:475
HP:0001249	Intellectual disability	3832	KIF11	ORPHA:2526
HP:0001249	Intellectual disability	80208	SPG11	OMIM:604360
HP:0001249	Intellectual disability	80208	SPG11	OMIM:616668
HP:0001249	Intellectual disability	259266	ASPM	OMIM:608716
HP:0001249	Intellectual disability	6487	ST3GAL3	OMIM:611090
HP:0001249	Intellectual disability	7991	TUSC3	OMIM:611093
HP:0001249	Intellectual disability	6651	SON	ORPHA:500150
HP:0001249	Intellectual disability	6651	SON	OMIM:617140
HP:0001249	Intellectual disability	85378	TUBGCP6	ORPHA:2518
HP:0001249	Intellectual disability	85378	TUBGCP6	OMIM:251270
HP:0001249	Intellectual disability	27229	TUBGCP4	ORPHA:2518
HP:0001249	Intellectual disability	9939	RBM8A	OMIM:274000
HP:0001249	Intellectual disability	9451	EIF2AK3	ORPHA:1667
HP:0001249	Intellectual disability	55553	SOX6	OMIM:618971
HP:0001249	Intellectual disability	1968	EIF2S3	OMIM:300148
HP:0001249	Intellectual disability	1804	DPP6	OMIM:616311
HP:0001249	Intellectual disability	8398	PLA2G6	OMIM:256600
HP:0001249	Intellectual disability	55367	PIDD1	OMIM:619827
HP:0001249	Intellectual disability	8942	KYNU	ORPHA:79155
HP:0001249	Intellectual disability	1281	COL3A1	ORPHA:2500
HP:0001249	Intellectual disability	64682	ANAPC1	ORPHA:221008
HP:0001249	Intellectual disability	8912	CACNA1H	ORPHA:64280
HP:0001249	Intellectual disability	104	ADARB1	OMIM:618862
HP:0001249	Intellectual disability	5723	PSPH	OMIM:614023
HP:0001249	Intellectual disability	9524	TECR	OMIM:614020
HP:0001249	Intellectual disability	2895	GRID2	OMIM:616204
HP:0001249	Intellectual disability	51126	NAA20	OMIM:619717
HP:0001249	Intellectual disability	2972	BRF1	OMIM:616202
HP:0001249	Intellectual disability	60684	TRAPPC11	OMIM:615356
HP:0001249	Intellectual disability	60684	TRAPPC11	ORPHA:869
HP:0001249	Intellectual disability	60684	TRAPPC11	ORPHA:369847
HP:0001249	Intellectual disability	3008	H1-4	OMIM:617537
HP:0001249	Intellectual disability	3891	KRT85	OMIM:602032
HP:0001249	Intellectual disability	124997	WDR81	ORPHA:1766
HP:0001249	Intellectual disability	767	CA8	ORPHA:1766
HP:0001249	Intellectual disability	116931	MED12L	OMIM:618872
HP:0001249	Intellectual disability	387119	CEP85L	OMIM:618873
HP:0001249	Intellectual disability	1630	DCC	OMIM:617542
HP:0001249	Intellectual disability	1644	DDC	ORPHA:35708
HP:0001249	Intellectual disability	3781	KCNN2	OMIM:619725
HP:0001249	Intellectual disability	84572	GNPTG	OMIM:252605
HP:0001249	Intellectual disability	83696	TRAPPC9	OMIM:613192
HP:0001249	Intellectual disability	9698	PUM1	OMIM:620719
HP:0001249	Intellectual disability	9698	PUM1	OMIM:617931
HP:0001249	Intellectual disability	9469	CHST3	OMIM:143095
HP:0001249	Intellectual disability	9692	PRORP	OMIM:619737
HP:0001249	Intellectual disability	7528	YY1	OMIM:617557
HP:0001249	Intellectual disability	1292	COL6A2	OMIM:620727
HP:0001249	Intellectual disability	4853	NOTCH2	OMIM:102500
HP:0001249	Intellectual disability	51319	RSRC1	OMIM:618402
HP:0001249	Intellectual disability	7920	ABHD16A	OMIM:619735
HP:0001249	Intellectual disability	23761	PISD	OMIM:618889
HP:0001249	Intellectual disability	8726	EED	OMIM:617561
HP:0001249	Intellectual disability	10715	CERS1	OMIM:616230
HP:0001249	Intellectual disability	5442	POLRMT	OMIM:619743
HP:0001249	Intellectual disability	4297	KMT2A	ORPHA:319182
HP:0001249	Intellectual disability	4297	KMT2A	OMIM:605130
HP:0001249	Intellectual disability	514	ATP5F1E	OMIM:614053
HP:0001249	Intellectual disability	84314	TMEM107	OMIM:617562
HP:0001249	Intellectual disability	267010	RNU12	ORPHA:85199
HP:0001249	Intellectual disability	64132	XYLT2	ORPHA:85194
HP:0001249	Intellectual disability	79158	GNPTAB	OMIM:252600
HP:0001249	Intellectual disability	79600	TCTN1	ORPHA:475
HP:0001249	Intellectual disability	200894	ARL13B	ORPHA:475
HP:0001249	Intellectual disability	200894	ARL13B	OMIM:612291
HP:0001249	Intellectual disability	219844	HYLS1	ORPHA:475
HP:0001249	Intellectual disability	23247	KATNIP	ORPHA:475
HP:0001249	Intellectual disability	219854	TMEM218	ORPHA:475
HP:0001249	Intellectual disability	9786	KIAA0586	ORPHA:475
HP:0001249	Intellectual disability	79867	TCTN2	ORPHA:475
HP:0001249	Intellectual disability	80776	B9D2	ORPHA:475
HP:0001249	Intellectual disability	10464	PIBF1	ORPHA:475
HP:0001249	Intellectual disability	23116	TOGARAM1	ORPHA:475
HP:0001249	Intellectual disability	25776	CBY1	ORPHA:475
HP:0001249	Intellectual disability	27077	B9D1	ORPHA:475
HP:0001249	Intellectual disability	27077	B9D1	OMIM:617120
HP:0001249	Intellectual disability	403	ARL3	ORPHA:475
HP:0001249	Intellectual disability	1789	DNMT3B	OMIM:242860
HP:0001249	Intellectual disability	1789	DNMT3B	ORPHA:2268
HP:0001249	Intellectual disability	9056	SLC7A7	ORPHA:470
HP:0001249	Intellectual disability	9056	SLC7A7	OMIM:222700
HP:0001249	Intellectual disability	51604	PIGT	OMIM:615398
HP:0001249	Intellectual disability	84504	NKX6-2	ORPHA:527497
HP:0001249	Intellectual disability	8363	H4C11	OMIM:619759
HP:0001249	Intellectual disability	9841	ZBTB24	OMIM:614069
HP:0001249	Intellectual disability	9841	ZBTB24	ORPHA:2268
HP:0001249	Intellectual disability	391356	PTRHD1	OMIM:620747
HP:0001249	Intellectual disability	2592	GALT	OMIM:230400
HP:0001249	Intellectual disability	6810	STX4	OMIM:620745
HP:0001249	Intellectual disability	7701	ZNF142	OMIM:618425
HP:0001249	Intellectual disability	8364	H4C3	OMIM:619758
HP:0001249	Intellectual disability	145258	GSC	OMIM:602471
HP:0001249	Intellectual disability	85365	ALG2	ORPHA:79326
HP:0001249	Intellectual disability	56052	ALG1	ORPHA:79327
HP:0001249	Intellectual disability	2312	FLG	ORPHA:461
HP:0001249	Intellectual disability	8314	BAP1	OMIM:619762
HP:0001249	Intellectual disability	53335	BCL11A	OMIM:617101
HP:0001249	Intellectual disability	59336	PRDM13	OMIM:619761
HP:0001249	Intellectual disability	54487	DGCR8	OMIM:192430
HP:0001249	Intellectual disability	8214	DGCR6	OMIM:192430
HP:0001249	Intellectual disability	8220	ESS2	OMIM:192430
HP:0001249	Intellectual disability	9993	DGCR2	OMIM:192430
HP:0001249	Intellectual disability	11261	CHP1	OMIM:618438
HP:0001249	Intellectual disability	51341	ZBTB7A	OMIM:619769
HP:0001249	Intellectual disability	2729	GCLC	ORPHA:33574
HP:0001249	Intellectual disability	9338	TCEAL1	OMIM:301094
HP:0001249	Intellectual disability	2556	GABRA3	OMIM:301091
HP:0001249	Intellectual disability	5373	PMM2	ORPHA:79318
HP:0001249	Intellectual disability	4351	MPI	ORPHA:79319
HP:0001249	Intellectual disability	7030	TFE3	OMIM:301066
HP:0001249	Intellectual disability	111	ADCY5	ORPHA:324588
HP:0001249	Intellectual disability	51651	PTRH2	OMIM:616263
HP:0001249	Intellectual disability	23162	MAPK8IP3	OMIM:618443
HP:0001249	Intellectual disability	3978	LIG1	OMIM:619774
HP:0001249	Intellectual disability	4123	MAN2C1	OMIM:619775
HP:0001249	Intellectual disability	54941	RNF125	OMIM:616260
HP:0001249	Intellectual disability	4099	MAG	ORPHA:459056
HP:0001249	Intellectual disability	7994	KAT6A	OMIM:616268
HP:0001249	Intellectual disability	85459	CEP295	OMIM:620767
HP:0001249	Intellectual disability	79087	ALG12	ORPHA:79324
HP:0001249	Intellectual disability	6528	SLC5A5	OMIM:274400
HP:0001249	Intellectual disability	6528	SLC5A5	ORPHA:95716
HP:0001249	Intellectual disability	257	ALX3	OMIM:136760
HP:0001249	Intellectual disability	9896	FIG4	ORPHA:208441
HP:0001249	Intellectual disability	8295	TRRAP	OMIM:618454
HP:0001249	Intellectual disability	79882	ZC3H14	OMIM:617125
HP:0001249	Intellectual disability	5256	PHKA2	ORPHA:264580
HP:0001249	Intellectual disability	5261	PHKG2	ORPHA:264580
HP:0001249	Intellectual disability	221078	NSUN6	OMIM:620779
HP:0001249	Intellectual disability	5062	PAK2	OMIM:618458
HP:0001249	Intellectual disability	27145	FILIP1	OMIM:620775
HP:0001249	Intellectual disability	2582	GALE	OMIM:620776
HP:0001249	Intellectual disability	2582	GALE	OMIM:230350
HP:0001249	Intellectual disability	84706	GPT2	OMIM:616281
HP:0001249	Intellectual disability	84706	GPT2	ORPHA:477673
HP:0001249	Intellectual disability	5898	RALA	OMIM:619311
HP:0001249	Intellectual disability	203547	VMA21	OMIM:310440
HP:0001249	Intellectual disability	4143	MAT1A	OMIM:250850
HP:0001249	Intellectual disability	11267	SNF8	OMIM:620784
HP:0001249	Intellectual disability	11267	SNF8	OMIM:620783
HP:0001249	Intellectual disability	22854	NTNG1	ORPHA:3095
HP:0001249	Intellectual disability	1436	CSF1R	OMIM:618476
HP:0001249	Intellectual disability	29998	BICRA	OMIM:619325
HP:0001249	Intellectual disability	10978	CLP1	ORPHA:411493
HP:0001249	Intellectual disability	23030	KDM4B	OMIM:619320
HP:0001249	Intellectual disability	7453	WARS1	OMIM:620317
HP:0001249	Intellectual disability	1363	CPE	OMIM:619326
HP:0001249	Intellectual disability	93035	PKHD1L1	OMIM:620794
HP:0001249	Intellectual disability	10329	RXYLT1	ORPHA:899
HP:0001249	Intellectual disability	11041	B4GAT1	ORPHA:899
HP:0001249	Intellectual disability	84197	POMK	ORPHA:899
HP:0001249	Intellectual disability	55624	POMGNT1	ORPHA:899
HP:0001249	Intellectual disability	55624	POMGNT1	OMIM:613151
HP:0001249	Intellectual disability	28982	FLVCR1	ORPHA:88628
HP:0001249	Intellectual disability	28982	FLVCR1	OMIM:609033
HP:0001249	Intellectual disability	23221	RHOBTB2	OMIM:618004
HP:0001249	Intellectual disability	2530	FUT8	OMIM:618005
HP:0001249	Intellectual disability	4128	MAOA	OMIM:300615
HP:0001249	Intellectual disability	79641	ROGDI	OMIM:226750
HP:0001249	Intellectual disability	1108	CHD4	OMIM:617159
HP:0001249	Intellectual disability	11080	DNAJB4	OMIM:620326
HP:0001249	Intellectual disability	4000	LMNA	OMIM:212112
HP:0001249	Intellectual disability	4000	LMNA	ORPHA:98855
HP:0001249	Intellectual disability	4000	LMNA	ORPHA:98853
HP:0001249	Intellectual disability	5903	RANBP2	ORPHA:88619
HP:0001249	Intellectual disability	372	ARCN1	OMIM:617164
HP:0001249	Intellectual disability	3977	LIFR	OMIM:601559
HP:0001249	Intellectual disability	10297	APC2	OMIM:617169
HP:0001249	Intellectual disability	84668	HYCC1	OMIM:610532
HP:0001249	Intellectual disability	64864	RFX7	OMIM:620330
HP:0001249	Intellectual disability	2628	GATM	OMIM:612718
HP:0001249	Intellectual disability	9791	PTDSS1	OMIM:151050
HP:0001249	Intellectual disability	9791	PTDSS1	ORPHA:2658
HP:0001249	Intellectual disability	4882	NPR2	OMIM:602875
HP:0001249	Intellectual disability	5977	DPF2	OMIM:618027
HP:0001249	Intellectual disability	10681	GNB5	OMIM:617173
HP:0001249	Intellectual disability	10681	GNB5	OMIM:617182
HP:0001249	Intellectual disability	26005	C2CD3	ORPHA:434179
HP:0001249	Intellectual disability	440138	ALG11	ORPHA:280071
HP:0001249	Intellectual disability	79143	MBOAT7	OMIM:617188
HP:0001249	Intellectual disability	498	ATP5F1A	OMIM:620358
HP:0001249	Intellectual disability	51339	DACT1	ORPHA:857
HP:0001249	Intellectual disability	2593	GAMT	OMIM:612736
HP:0001249	Intellectual disability	627	BDNF	ORPHA:893
HP:0001249	Intellectual disability	55252	ASXL2	OMIM:617190
HP:0001249	Intellectual disability	6904	TBCD	OMIM:617193
HP:0001249	Intellectual disability	23154	NCDN	OMIM:619373
HP:0001249	Intellectual disability	8799	PEX11B	OMIM:614920
HP:0001249	Intellectual disability	10295	BCKDK	OMIM:614923
HP:0001249	Intellectual disability	55074	OXR1	OMIM:213000
HP:0001249	Intellectual disability	5076	PAX2	OMIM:120330
HP:0001249	Intellectual disability	11011	TLK2	OMIM:618050
HP:0001249	Intellectual disability	389434	IYD	OMIM:274800
HP:0001249	Intellectual disability	389434	IYD	ORPHA:95716
HP:0001249	Intellectual disability	27072	VPS41	OMIM:619389
HP:0001249	Intellectual disability	221927	BRAT1	OMIM:618056
HP:0001249	Intellectual disability	11113	CIT	OMIM:617090
HP:0001249	Intellectual disability	4574	MT-TS1	OMIM:220110
HP:0001249	Intellectual disability	4570	MT-TN	OMIM:220110
HP:0001249	Intellectual disability	6834	SURF1	OMIM:220110
HP:0001249	Intellectual disability	132158	GLYCTK	ORPHA:941
HP:0001249	Intellectual disability	132158	GLYCTK	OMIM:220120
HP:0001249	Intellectual disability	8443	GNPAT	OMIM:222765
HP:0001249	Intellectual disability	9442	MED27	OMIM:619286
HP:0001249	Intellectual disability	1146	CHRNG	OMIM:265000
HP:0001249	Intellectual disability	7102	TSPAN7	OMIM:300210
HP:0001249	Intellectual disability	2892	GRIA3	OMIM:300699
HP:0001249	Intellectual disability	57492	ARID1B	OMIM:135900
HP:0001249	Intellectual disability	3899	AFF3	OMIM:619297
HP:0001249	Intellectual disability	8131	NPRL3	ORPHA:98820
HP:0001249	Intellectual disability	10641	NPRL2	ORPHA:98820
HP:0001249	Intellectual disability	26523	AGO1	OMIM:620292
HP:0001249	Intellectual disability	29128	UHRF1	ORPHA:2268
HP:0001249	Intellectual disability	649	BMP1	OMIM:614856
HP:0001249	Intellectual disability	1727	CYB5R3	OMIM:250800
HP:0001249	Intellectual disability	197257	LDHD	OMIM:245450
HP:0001249	Intellectual disability	1857	DVL3	ORPHA:3107
HP:0001249	Intellectual disability	2535	FZD2	ORPHA:3107
HP:0001249	Intellectual disability	5828	PEX2	OMIM:614866
HP:0001249	Intellectual disability	540	ATP7B	ORPHA:905
HP:0001249	Intellectual disability	2627	GATA6	ORPHA:2255
HP:0001249	Intellectual disability	6804	STX1A	ORPHA:904
HP:0001249	Intellectual disability	7461	CLIP2	ORPHA:904
HP:0001249	Intellectual disability	84277	DNAJC30	ORPHA:904
HP:0001249	Intellectual disability	8468	FKBP6	ORPHA:904
HP:0001249	Intellectual disability	5982	RFC2	ORPHA:904
HP:0001249	Intellectual disability	2969	GTF2I	ORPHA:904
HP:0001249	Intellectual disability	3984	LIMK1	ORPHA:904
HP:0001249	Intellectual disability	9569	GTF2IRD1	ORPHA:904
HP:0001249	Intellectual disability	155382	VPS37D	ORPHA:904
HP:0001249	Intellectual disability	155368	METTL27	ORPHA:904
HP:0001249	Intellectual disability	114049	BUD23	ORPHA:904
HP:0001249	Intellectual disability	7458	EIF4H	ORPHA:904
HP:0001249	Intellectual disability	84163	GTF2IRD2	ORPHA:904
HP:0001249	Intellectual disability	26608	TBL2	ORPHA:904
HP:0001249	Intellectual disability	653361	NCF1	ORPHA:904
HP:0001249	Intellectual disability	135886	TMEM270	ORPHA:904
HP:0001249	Intellectual disability	9031	BAZ1B	ORPHA:904
HP:0001249	Intellectual disability	6329	SCN4A	ORPHA:99735
HP:0001249	Intellectual disability	5297	PI4KA	ORPHA:98889
HP:0001249	Intellectual disability	5297	PI4KA	OMIM:619708
HP:0001249	Intellectual disability	78989	COLEC11	OMIM:265050
HP:0001249	Intellectual disability	78989	COLEC11	ORPHA:293843
HP:0001249	Intellectual disability	728294	D2HGDH	OMIM:600721
HP:0001249	Intellectual disability	6628	SNRPB	ORPHA:1393
HP:0001249	Intellectual disability	6628	SNRPB	OMIM:117650
HP:0001249	Intellectual disability	2548	GAA	ORPHA:308552
HP:0001249	Intellectual disability	9409	PEX16	OMIM:614877
HP:0001249	Intellectual disability	254065	BRWD3	OMIM:300659
HP:0001249	Intellectual disability	26047	CNTNAP2	OMIM:610042
HP:0001249	Intellectual disability	25782	RAB3GAP2	ORPHA:1387
HP:0001249	Intellectual disability	9928	KIF14	OMIM:617914
HP:0001249	Intellectual disability	63901	FAM111A	OMIM:127000
HP:0001249	Intellectual disability	57704	GBA2	OMIM:614409
HP:0001249	Intellectual disability	1487	CTBP1	OMIM:617915
HP:0001249	Intellectual disability	2273	FHL1	ORPHA:98863
HP:0001249	Intellectual disability	2273	FHL1	OMIM:300280
HP:0001249	Intellectual disability	2010	EMD	ORPHA:98863
HP:0001249	Intellectual disability	80067	DCAF17	OMIM:241080
HP:0001249	Intellectual disability	57094	CPA6	OMIM:614417
HP:0001249	Intellectual disability	79188	TMEM43	ORPHA:98853
HP:0001249	Intellectual disability	23224	SYNE2	ORPHA:98853
HP:0001249	Intellectual disability	9158	FIBP	ORPHA:500095
HP:0001249	Intellectual disability	4683	NBN	OMIM:251260
HP:0001249	Intellectual disability	27249	MMADHC	OMIM:277410
HP:0001249	Intellectual disability	27249	MMADHC	ORPHA:79283
HP:0001249	Intellectual disability	10157	AASS	ORPHA:2203
HP:0001249	Intellectual disability	3033	HADH	OMIM:609975
HP:0001249	Intellectual disability	101929726	MYMX	ORPHA:1358
HP:0001249	Intellectual disability	8671	SLC4A4	OMIM:604278
HP:0001249	Intellectual disability	51116	MRPS2	OMIM:617950
HP:0001249	Intellectual disability	9512	PMPCB	OMIM:617954
HP:0001249	Intellectual disability	7173	TPO	ORPHA:95716
HP:0001249	Intellectual disability	50506	DUOX2	ORPHA:95716
HP:0001249	Intellectual disability	5605	MAP2K2	ORPHA:1340
HP:0001249	Intellectual disability	686	BTD	ORPHA:79241
HP:0001249	Intellectual disability	20	ABCA2	OMIM:618808
HP:0001249	Intellectual disability	3549	IHH	OMIM:607778
HP:0001249	Intellectual disability	338917	VSX2	OMIM:610093
HP:0001249	Intellectual disability	54664	TMEM106B	OMIM:617964
HP:0001249	Intellectual disability	54658	UGT1A1	ORPHA:79234
HP:0001249	Intellectual disability	2584	GALK1	ORPHA:79237
HP:0001249	Intellectual disability	51128	SAR1B	OMIM:246700
HP:0001249	Intellectual disability	6505	SLC1A1	OMIM:222730
HP:0001249	Intellectual disability	57468	SLC12A5	OMIM:616645
HP:0001249	Intellectual disability	10815	CPLX1	OMIM:617976
HP:0001249	Intellectual disability	2643	GCH1	ORPHA:98808
HP:0001249	Intellectual disability	3615	IMPDH2	ORPHA:98808
HP:0001249	Intellectual disability	2588	GALNS	OMIM:253000
HP:0001249	Intellectual disability	4337	MOCS1	OMIM:252150
HP:0001249	Intellectual disability	8405	SPOP	OMIM:618828
HP:0001249	Intellectual disability	8405	SPOP	OMIM:618829
HP:0001249	Intellectual disability	7507	XPA	OMIM:278700
HP:0001249	Intellectual disability	151	ADRA2B	ORPHA:86814
HP:0001249	Intellectual disability	1501	CTNND2	ORPHA:86814
HP:0001249	Intellectual disability	10299	MARCHF6	ORPHA:86814
HP:0001249	Intellectual disability	6900	CNTN2	ORPHA:86814
HP:0001249	Intellectual disability	51305	KCNK9	OMIM:612292
HP:0001249	Intellectual disability	54870	QRICH1	OMIM:617982
HP:0001249	Intellectual disability	54676	GTPBP2	OMIM:617988
HP:0001249	Intellectual disability	84631	SLITRK2	OMIM:301107
HP:0001249	Intellectual disability	51780	KDM3B	OMIM:618846
HP:0001249	Intellectual disability	4668	NAGA	ORPHA:79281
HP:0001249	Intellectual disability	10312	TCIRG1	ORPHA:1782
HP:0001249	Intellectual disability	55315	SLC29A3	ORPHA:1782
HP:0001249	Intellectual disability	8792	TNFRSF11A	ORPHA:1782
HP:0001249	Intellectual disability	25974	MMACHC	ORPHA:79282
HP:0001249	Intellectual disability	25974	MMACHC	OMIM:277400
HP:0001249	Intellectual disability	63929	XPNPEP3	OMIM:613159
HP:0001249	Intellectual disability	5718	PSMD12	OMIM:617516
HP:0001249	Intellectual disability	55788	LMBRD1	ORPHA:79284
HP:0001249	Intellectual disability	10225	CD96	ORPHA:1308
HP:0001249	Intellectual disability	1807	DPYS	OMIM:222748
HP:0001249	Intellectual disability	6223	RPS19	OMIM:105650
HP:0001249	Intellectual disability	9203	ZMYM3	OMIM:301111
HP:0001249	Intellectual disability	23133	PHF8	OMIM:300263
HP:0001249	Intellectual disability	9130	FAM50A	OMIM:300261
HP:0001249	Intellectual disability	139886	SPIN4	OMIM:301114
HP:0001249	Intellectual disability	64072	CDH23	ORPHA:231169
HP:0001249	Intellectual disability	10083	USH1C	ORPHA:231169
HP:0001249	Intellectual disability	124590	USH1G	ORPHA:231169
HP:0001249	Intellectual disability	83715	ESPN	ORPHA:231169
HP:0001249	Intellectual disability	10518	CIB2	ORPHA:231169
HP:0001249	Intellectual disability	4647	MYO7A	ORPHA:231169
HP:0001249	Intellectual disability	65217	PCDH15	ORPHA:231169
HP:0001249	Intellectual disability	51733	UPB1	OMIM:613161
HP:0001249	Intellectual disability	23001	WDFY3	OMIM:617520
HP:0001249	Intellectual disability	7543	ZFX	OMIM:301118
HP:0001249	Intellectual disability	8738	CRADD	OMIM:614499
HP:0001249	Intellectual disability	4858	NOVA2	OMIM:618859
HP:0001249	Intellectual disability	9181	ARHGEF2	OMIM:617523
HP:0001249	Intellectual disability	5052	PRDX1	OMIM:277400
HP:0001249	Intellectual disability	10749	KIF1C	ORPHA:397946
HP:0001249	Intellectual disability	85465	SELENOI	ORPHA:506353
HP:0001249	Intellectual disability	85465	SELENOI	OMIM:618768
HP:0001249	Intellectual disability	29899	GPSM2	OMIM:604213
HP:0001249	Intellectual disability	3094	HINT1	ORPHA:324442
HP:0001249	Intellectual disability	10973	ASCC3	OMIM:620700
HP:0001249	Intellectual disability	7021	TFAP2B	OMIM:169100
HP:0001249	Intellectual disability	5457	POU4F1	ORPHA:314647
HP:0001249	Intellectual disability	4522	MTHFD1	OMIM:617780
HP:0001249	Intellectual disability	5917	RARS1	ORPHA:438114
HP:0001249	Intellectual disability	5917	RARS1	OMIM:616140
HP:0001249	Intellectual disability	8309	ACOX2	OMIM:617308
HP:0001249	Intellectual disability	57156	TMEM63C	OMIM:619966
HP:0001249	Intellectual disability	3764	KCNJ8	ORPHA:1517
HP:0001249	Intellectual disability	10060	ABCC9	ORPHA:1517
HP:0001249	Intellectual disability	10060	ABCC9	OMIM:239850
HP:0001249	Intellectual disability	80153	EDC3	OMIM:616460
HP:0001249	Intellectual disability	55154	MSTO1	OMIM:617675
HP:0001249	Intellectual disability	55154	MSTO1	ORPHA:502423
HP:0001249	Intellectual disability	6884	TAF13	OMIM:617432
HP:0001249	Intellectual disability	10939	AFG3L2	ORPHA:313772
HP:0001249	Intellectual disability	2626	GATA4	ORPHA:251071
HP:0001249	Intellectual disability	7020	TFAP2A	OMIM:113620
HP:0001249	Intellectual disability	833	CARS1	OMIM:618891
HP:0001249	Intellectual disability	79731	NARS2	OMIM:616239
HP:0001249	Intellectual disability	5192	PEX10	ORPHA:247815
HP:0001249	Intellectual disability	81794	ADAMTS10	OMIM:277600
HP:0001249	Intellectual disability	81794	ADAMTS10	ORPHA:3449
HP:0001249	Intellectual disability	54902	TTC19	OMIM:615157
HP:0001249	Intellectual disability	1660	DHX9	OMIM:620988
HP:0001249	Intellectual disability	10021	HCN4	OMIM:619521
HP:0001249	Intellectual disability	1615	DARS1	OMIM:615281
HP:0001249	Intellectual disability	6942	TCF20	OMIM:618430
HP:0001249	Intellectual disability	641	BLM	OMIM:210900
HP:0001249	Intellectual disability	51062	ATL1	OMIM:182600
HP:0001249	Intellectual disability	29110	TBK1	OMIM:620880
HP:0001249	Intellectual disability	178	AGL	ORPHA:366
HP:0001249	Intellectual disability	2742	GLRA2	OMIM:301076
HP:0001249	Intellectual disability	5111	PCNA	ORPHA:438134
HP:0001249	Intellectual disability	5908	RAP1B	OMIM:620654
HP:0001249	Intellectual disability	3242	HPD	OMIM:276710
HP:0001249	Intellectual disability	3242	HPD	OMIM:140350
HP:0001249	Intellectual disability	8905	AP1S2	OMIM:304340
HP:0001249	Intellectual disability	23111	SPART	OMIM:275900
HP:0001249	Intellectual disability	3155	HMGCL	ORPHA:20
HP:0001249	Intellectual disability	54973	INTS11	OMIM:620428
HP:0001249	Intellectual disability	1756	DMD	OMIM:310200
HP:0001249	Intellectual disability	79903	NAA60	OMIM:620786
HP:0001249	Intellectual disability	9256	TSPOAP1	ORPHA:101150
HP:0001249	Intellectual disability	7054	TH	ORPHA:101150
HP:0001249	Intellectual disability	4568	MT-TL2	ORPHA:663
HP:0001249	Intellectual disability	4567	MT-TL1	ORPHA:663
HP:0001249	Intellectual disability	23102	TBC1D2B	OMIM:619323
HP:0001249	Intellectual disability	23102	TBC1D2B	ORPHA:397973
HP:0001249	Intellectual disability	56521	DNAJC12	OMIM:617384
HP:0001249	Intellectual disability	3714	JAG2	OMIM:619566
HP:0001249	Intellectual disability	6729	SRP54	OMIM:260400
HP:0001249	Intellectual disability	23524	SRRM2	OMIM:620439
HP:0001249	Intellectual disability	8890	EIF2B4	OMIM:620314
HP:0001249	Intellectual disability	4041	LRP5	OMIM:259770
HP:0001249	Intellectual disability	4041	LRP5	ORPHA:891
HP:0001249	Intellectual disability	51473	DCDC2	OMIM:617394
HP:0001249	Intellectual disability	537	ATP6AP1	OMIM:300972
HP:0001249	Intellectual disability	201163	FLCN	OMIM:610883
HP:0001249	Intellectual disability	3183	HNRNPC	OMIM:620688
HP:0001249	Intellectual disability	1135	CHRNA2	ORPHA:98784
HP:0001249	Intellectual disability	57010	CABP4	ORPHA:98784
HP:0001249	Intellectual disability	1141	CHRNB2	ORPHA:98784
HP:0001249	Intellectual disability	1392	CRH	ORPHA:98784
HP:0001249	Intellectual disability	8091	HMGA2	ORPHA:94063
HP:0001249	Intellectual disability	23592	LEMD3	ORPHA:94063
HP:0001249	Intellectual disability	55186	SLC25A36	OMIM:620211
HP:0001249	Intellectual disability	10771	ZMYND11	OMIM:616083
HP:0001249	Intellectual disability	1021	CDK6	OMIM:616080
HP:0001249	Intellectual disability	55213	RCBTB1	OMIM:617175
HP:0001249	Intellectual disability	29957	SLC25A24	ORPHA:2095
HP:0001249	Intellectual disability	8452	CUL3	OMIM:619239
HP:0001249	Intellectual disability	92935	MARS2	ORPHA:314603
HP:0001249	Intellectual disability	23067	SETD1B	OMIM:619000
HP:0001249	Intellectual disability	84905	ZNF341	OMIM:618282
HP:0001249	Intellectual disability	4693	NDP	ORPHA:891
HP:0001249	Intellectual disability	23554	TSPAN12	ORPHA:891
HP:0001249	Intellectual disability	79797	ZNF408	ORPHA:891
HP:0001249	Intellectual disability	8322	FZD4	ORPHA:891
HP:0001249	Intellectual disability	4508	MT-ATP6	ORPHA:225154
HP:0001249	Intellectual disability	103	ADAR	ORPHA:225154
HP:0001249	Intellectual disability	4256	MGP	OMIM:245150
HP:0001249	Intellectual disability	4256	MGP	ORPHA:85202
HP:0001249	Intellectual disability	6571	SLC18A2	OMIM:618049
HP:0001249	Intellectual disability	10020	GNE	ORPHA:3166
HP:0001249	Intellectual disability	10020	GNE	OMIM:269921
HP:0001249	Intellectual disability	10079	ATP9A	OMIM:620242
HP:0001249	Intellectual disability	5611	DNAJC3	ORPHA:445062
HP:0001249	Intellectual disability	9423	NTN1	OMIM:157600
HP:0001249	Intellectual disability	9423	NTN1	ORPHA:238722
HP:0001249	Intellectual disability	375056	MIA3	OMIM:619269
HP:0001249	Intellectual disability	284361	EMC10	OMIM:619264
HP:0001249	Intellectual disability	9652	SKIC3	ORPHA:84064
HP:0001249	Intellectual disability	6499	SKIC2	ORPHA:84064
HP:0001249	Intellectual disability	267	AMFR	OMIM:620379
HP:0001249	Intellectual disability	324	APC	ORPHA:261584
HP:0001249	Intellectual disability	6853	SYN1	OMIM:300115
HP:0001249	Intellectual disability	1183	CLCN4	OMIM:300114
HP:0001249	Intellectual disability	84282	RNF135	ORPHA:137634
HP:0001249	Intellectual disability	10093	ARPC4	OMIM:620141
HP:0001249	Intellectual disability	55780	ERMARD	ORPHA:75857
HP:0001249	Intellectual disability	6866	TAC3	OMIM:614839
HP:0001249	Intellectual disability	25778	DSTYK	OMIM:270750
HP:0001249	Intellectual disability	9382	COG1	ORPHA:263508
HP:0001249	Intellectual disability	64601	VPS16	OMIM:619291
HP:0001249	Intellectual disability	274	BIN1	OMIM:255200
HP:0001249	Intellectual disability	274	BIN1	ORPHA:169186
HP:0001249	Intellectual disability	1757	SARDH	ORPHA:3129
HP:0001249	Intellectual disability	7080	NKX2-1	ORPHA:209905
HP:0001249	Intellectual disability	8546	AP3B1	OMIM:608233
HP:0001249	Intellectual disability	1678	TIMM8A	OMIM:304700
HP:0001249	Intellectual disability	4591	TRIM37	OMIM:253250
HP:0001249	Intellectual disability	4803	NGF	ORPHA:64752
HP:0001249	Intellectual disability	4803	NGF	OMIM:608654
HP:0001249	Intellectual disability	9719	ADAMTSL2	OMIM:231050
HP:0001249	Intellectual disability	2259	FGF14	ORPHA:98764
HP:0001249	Intellectual disability	55027	HEATR3	OMIM:620072
HP:0001249	Intellectual disability	1737	DLAT	OMIM:245348
HP:0001249	Intellectual disability	182	JAG1	OMIM:118450
HP:0001249	Intellectual disability	55906	ZC4H2	ORPHA:3454
HP:0001249	Intellectual disability	55906	ZC4H2	OMIM:314580
HP:0001249	Intellectual disability	4692	NDN	ORPHA:98754
HP:0001249	Intellectual disability	4692	NDN	ORPHA:177904
HP:0001249	Intellectual disability	4692	NDN	ORPHA:177901
HP:0001249	Intellectual disability	4948	OCA2	ORPHA:98754
HP:0001249	Intellectual disability	4948	OCA2	ORPHA:177904
HP:0001249	Intellectual disability	4948	OCA2	ORPHA:177901
HP:0001249	Intellectual disability	10984	KCNQ1OT1	ORPHA:2128
HP:0001249	Intellectual disability	5295	PIK3R1	OMIM:269880
HP:0001249	Intellectual disability	170691	ADAMTS17	ORPHA:3449
HP:0001249	Intellectual disability	4053	LTBP2	ORPHA:3449
HP:0001249	Intellectual disability	55835	CPAP	OMIM:613676
HP:0001249	Intellectual disability	92154	MTSS2	OMIM:620086
HP:0001249	Intellectual disability	23590	PDSS1	OMIM:614651
HP:0001249	Intellectual disability	6307	MSMO1	OMIM:616834
HP:0001249	Intellectual disability	6664	SOX11	OMIM:615866
HP:0001249	Intellectual disability	57410	SCYL1	OMIM:616719
HP:0001249	Intellectual disability	57410	SCYL1	ORPHA:466794
HP:0001249	Intellectual disability	84705	GTPBP3	ORPHA:444013
HP:0001249	Intellectual disability	10290	SPEG	ORPHA:169186
HP:0001249	Intellectual disability	6261	RYR1	ORPHA:169186
HP:0001249	Intellectual disability	7273	TTN	ORPHA:169186
HP:0001249	Intellectual disability	10126	DNAL4	ORPHA:238722
HP:0001249	Intellectual disability	51621	KLF13	OMIM:612001
HP:0001249	Intellectual disability	6712	SPTBN2	ORPHA:352403
HP:0001249	Intellectual disability	55187	VPS13D	OMIM:607317
HP:0001249	Intellectual disability	84816	RTN4IP1	OMIM:616732
HP:0001249	Intellectual disability	131118	DNAJC19	OMIM:610198
HP:0001249	Intellectual disability	169792	GLIS3	OMIM:610199
HP:0001249	Intellectual disability	2122	MECOM	OMIM:616738
HP:0001249	Intellectual disability	54974	THG1L	OMIM:618800
HP:0001249	Intellectual disability	291	SLC25A4	OMIM:615418
HP:0001249	Intellectual disability	23400	ATP13A2	OMIM:606693
HP:0001249	Intellectual disability	51185	CRBN	OMIM:607417
HP:0001249	Intellectual disability	57599	WDR48	ORPHA:401800
HP:0001249	Intellectual disability	29980	DONSON	OMIM:617604
HP:0001249	Intellectual disability	158326	FREM1	OMIM:608980
HP:0001249	Intellectual disability	26576	SRPK3	OMIM:301134
HP:0001249	Intellectual disability	23209	MLC1	OMIM:604004
HP:0001249	Intellectual disability	4780	NFE2L2	OMIM:617744
HP:0001249	Intellectual disability	3295	HSD17B4	OMIM:233400
HP:0001249	Intellectual disability	113246	C12orf57	OMIM:218340
HP:0001249	Intellectual disability	5456	POU3F4	ORPHA:1435
HP:0001249	Intellectual disability	57502	NLGN4X	OMIM:300495
HP:0001249	Intellectual disability	210	ALAD	ORPHA:100924
HP:0001249	Intellectual disability	119559	SFXN4	OMIM:615578
HP:0001249	Intellectual disability	51663	ZFR	ORPHA:401840
HP:0001249	Intellectual disability	23309	SIN3B	ORPHA:500166
HP:0001249	Intellectual disability	23404	EXOSC2	OMIM:617763
HP:0001249	Intellectual disability	1478	CSTF2	OMIM:301116
HP:0001249	Intellectual disability	6736	SRY	ORPHA:1772
HP:0001249	Intellectual disability	58499	ZNF462	OMIM:618619
HP:0001249	Intellectual disability	51399	TRAPPC4	OMIM:618741
HP:0001249	Intellectual disability	7360	UGP2	OMIM:618744
HP:0001249	Intellectual disability	55746	NUP133	OMIM:618349
HP:0001249	Intellectual disability	53616	ADAM22	OMIM:617933
HP:0001249	Intellectual disability	128869	PIGU	OMIM:618590
HP:0001249	Intellectual disability	11277	TREX1	OMIM:225750
HP:0001249	Intellectual disability	11277	TREX1	ORPHA:51
HP:0001249	Intellectual disability	64801	ARV1	OMIM:617020
HP:0001249	Intellectual disability	63908	NAPB	OMIM:620033
HP:0001249	Intellectual disability	7343	UBTF	OMIM:617672
HP:0001249	Intellectual disability	7343	UBTF	ORPHA:500180
HP:0001249	Intellectual disability	7965	AIMP2	OMIM:618006
HP:0001249	Intellectual disability	93627	TBCK	OMIM:616900
HP:0001249	Intellectual disability	83480	PUS3	ORPHA:488627
HP:0001249	Intellectual disability	83480	PUS3	OMIM:617051
HP:0001249	Intellectual disability	171023	ASXL1	ORPHA:97297
HP:0001249	Intellectual disability	171023	ASXL1	OMIM:605039
HP:0001249	Intellectual disability	1193	CLIC2	ORPHA:324410
HP:0001249	Intellectual disability	11342	RNF13	OMIM:618379
HP:0001249	Intellectual disability	11342	RNF13	ORPHA:544503
HP:0001249	Intellectual disability	4905	NSF	OMIM:619340
HP:0001249	Intellectual disability	54681	P4HTM	OMIM:618493
HP:0001249	Intellectual disability	5277	PIGA	OMIM:300868
HP:0001249	Intellectual disability	128637	TBC1D20	OMIM:615663
HP:0001249	Intellectual disability	6785	ELOVL4	OMIM:614457
HP:0001249	Intellectual disability	54872	PIGG	OMIM:616917
HP:0001249	Intellectual disability	7737	RNF113A	OMIM:300953
HP:0001249	Intellectual disability	22931	RAB18	OMIM:614222
HP:0001249	Intellectual disability	285175	UNC80	OMIM:616801
HP:0001249	Intellectual disability	51091	SEPSECS	OMIM:613811
HP:0001249	Intellectual disability	56270	WDR45B	OMIM:617977
HP:0001249	Intellectual disability	51611	DPH5	OMIM:620070
HP:0001249	Intellectual disability	2571	GAD1	OMIM:619124
HP:0001249	Intellectual disability	60558	GUF1	OMIM:617065
HP:0001249	Intellectual disability	51124	IER3IP1	OMIM:614231
HP:0001249	Intellectual disability	9326	ZNHIT3	OMIM:260565
HP:0001249	Intellectual disability	55704	CCDC88A	OMIM:617507
HP:0001249	Intellectual disability	100506658	OCLN	OMIM:251290
HP:0001249	Intellectual disability	471	ATIC	OMIM:608688
HP:0001249	Intellectual disability	2271	FH	OMIM:606812
HP:0001249	Intellectual disability	5296	PIK3R2	OMIM:603387
HP:0001249	Intellectual disability	529	ATP6V1E1	ORPHA:357074
HP:0001249	Intellectual disability	3423	IDS	OMIM:309900
HP:0001249	Intellectual disability	10479	SLC9A6	ORPHA:85278
HP:0001249	Intellectual disability	51294	PCDH12	OMIM:251280
HP:0001249	Intellectual disability	58497	PRUNE1	OMIM:617481
HP:0001249	Intellectual disability	54344	DPM3	ORPHA:263494
HP:0001249	Intellectual disability	3329	HSPD1	OMIM:612233
HP:0001249	Intellectual disability	10695	CNPY3	OMIM:617929
HP:0001249	Intellectual disability	10535	RNASEH2A	ORPHA:51
HP:0001249	Intellectual disability	84153	RNASEH2C	ORPHA:51
HP:0001249	Intellectual disability	25939	SAMHD1	ORPHA:51
HP:0001249	Intellectual disability	79621	RNASEH2B	ORPHA:51
HP:0001249	Intellectual disability	100147744	RNU7-1	ORPHA:51
HP:0001249	Intellectual disability	134353	LSM11	ORPHA:51
HP:0001249	Intellectual disability	5138	PDE2A	OMIM:619150
HP:0001249	Intellectual disability	50651	SLC45A1	OMIM:617532
HP:0001249	Intellectual disability	54968	TMEM70	ORPHA:1194
HP:0001249	Intellectual disability	1278	COL1A2	ORPHA:230851
HP:0001249	Intellectual disability	25914	RTTN	OMIM:614833
HP:0001249	Intellectual disability	2192	FBLN1	ORPHA:404451
HP:0001249	Intellectual disability	81857	MED25	ORPHA:464738
HP:0001249	Intellectual disability	343641	TGM6	ORPHA:276193
HP:0001249	Intellectual disability	2961	GTF2E2	OMIM:616943
HP:0001249	Intellectual disability	4556	MT-TE	ORPHA:2596
HP:0001249	Intellectual disability	3798	KIF5A	ORPHA:100991
HP:0001249	Intellectual disability	51117	COQ4	OMIM:616276
HP:0001249	Intellectual disability	10765	KDM5B	OMIM:618109
HP:0001249	Intellectual disability	10586	MAB21L2	OMIM:615877
HP:0001249	Intellectual disability	1950	EGF	OMIM:611718
HP:0001249	Intellectual disability	51103	NDUFAF1	OMIM:618234
HP:0001249	Intellectual disability	79133	NDUFAF5	OMIM:618238
HP:0001249	Intellectual disability	6301	SARS1	OMIM:617709
HP:0001249	Intellectual disability	84679	SLC9A7	OMIM:301024
HP:0001249	Intellectual disability	166378	AFG2A	ORPHA:457351
HP:0001249	Intellectual disability	23389	MED13L	ORPHA:369891
HP:0001249	Intellectual disability	23389	MED13L	OMIM:616789
HP:0001249	Intellectual disability	80185	TTI2	OMIM:615541
HP:0001249	Intellectual disability	80185	TTI2	ORPHA:391307
HP:0001249	Intellectual disability	8812	CCNK	OMIM:618147
HP:0001249	Intellectual disability	27107	ZBTB11	OMIM:618383
HP:0001249	Intellectual disability	1861	TOR1A	OMIM:618947
HP:0001249	Intellectual disability	131669	UROC1	OMIM:276880
HP:0001249	Intellectual disability	9918	NCAPD2	OMIM:617983
HP:0001249	Intellectual disability	55755	CDK5RAP2	OMIM:604804
HP:0001249	Intellectual disability	6472	SHMT2	OMIM:619121
HP:0001249	Intellectual disability	23397	NCAPH	OMIM:617985
HP:0001249	Intellectual disability	5495	PPM1B	ORPHA:163693
HP:0001249	Intellectual disability	6519	SLC3A1	ORPHA:163693
HP:0001249	Intellectual disability	9581	PREPL	ORPHA:163693
HP:0001249	Intellectual disability	79823	CAMKMT	ORPHA:163693
HP:0001249	Intellectual disability	4081	MAB21L1	ORPHA:495875
HP:0001249	Intellectual disability	11141	IL1RAPL1	OMIM:300143
HP:0001249	Intellectual disability	51109	RDH11	ORPHA:436245
HP:0001249	Intellectual disability	10369	CACNG2	OMIM:614256
HP:0001249	Intellectual disability	284217	LAMA1	ORPHA:370022
HP:0001249	Intellectual disability	51	ACOX1	OMIM:264470
HP:0001249	Intellectual disability	7084	TK2	OMIM:609560
HP:0001249	Intellectual disability	1509	CTSD	OMIM:610127
HP:0001249	Intellectual disability	55343	SLC35C1	OMIM:266265
HP:0001249	Intellectual disability	8803	SUCLA2	OMIM:612073
HP:0001249	Intellectual disability	8803	SUCLA2	ORPHA:1933
HP:0001249	Intellectual disability	1482	NKX2-5	OMIM:225250
HP:0001249	Intellectual disability	1760	DMPK	OMIM:160900
HP:0001249	Intellectual disability	7252	TSHB	OMIM:275100
HP:0001249	Intellectual disability	9179	AP4M1	OMIM:612936
HP:0001249	Intellectual disability	7508	XPC	ORPHA:910
HP:0001249	Intellectual disability	1643	DDB2	ORPHA:910
HP:0001249	Intellectual disability	59344	ALOXE3	OMIM:242100
HP:0001249	Intellectual disability	242	ALOX12B	OMIM:242100
HP:0001249	Intellectual disability	5424	POLD1	OMIM:620836
HP:0001249	Intellectual disability	318	NUDT2	OMIM:619844
HP:0001249	Intellectual disability	5010	CLDN11	OMIM:619328
HP:0001249	Intellectual disability	3778	KCNMA1	ORPHA:79137
HP:0001249	Intellectual disability	10501	SEMA6B	OMIM:618876
HP:0001249	Intellectual disability	2590	GALNT2	OMIM:618885
HP:0001249	Intellectual disability	818	CAMK2G	OMIM:618522
HP:0001249	Intellectual disability	3064	HTT	OMIM:617435
HP:0001249	Intellectual disability	7469	NELFA	ORPHA:280
HP:0001249	Intellectual disability	9037	SEMA5A	ORPHA:281
HP:0001249	Intellectual disability	4247	MGAT2	OMIM:212066
HP:0001249	Intellectual disability	29081	METTL5	OMIM:618665
HP:0001249	Intellectual disability	29081	METTL5	ORPHA:2512
HP:0001249	Intellectual disability	10717	AP4B1	OMIM:614066
HP:0001249	Intellectual disability	10717	AP4B1	ORPHA:280763
HP:0001249	Intellectual disability	84879	MFSD2A	OMIM:616486
HP:0001249	Intellectual disability	84879	MFSD2A	ORPHA:2512
HP:0001249	Intellectual disability	11154	AP4S1	OMIM:614067
HP:0001249	Intellectual disability	11154	AP4S1	ORPHA:280763
HP:0001249	Intellectual disability	55773	TBC1D23	OMIM:617695
HP:0001249	Intellectual disability	51633	OTUD6B	OMIM:617452
HP:0001249	Intellectual disability	51633	OTUD6B	ORPHA:505237
HP:0001249	Intellectual disability	27089	UQCRQ	OMIM:615159
HP:0001249	Intellectual disability	9354	UBE4A	OMIM:619639
HP:0001249	Intellectual disability	92609	TIMM50	OMIM:617698
HP:0001249	Intellectual disability	92609	TIMM50	ORPHA:505216
HP:0001249	Intellectual disability	54828	BCAS3	OMIM:619641
HP:0001249	Intellectual disability	3800	KIF5C	OMIM:615282
HP:0001249	Intellectual disability	2258	FGF13	OMIM:301095
HP:0001249	Intellectual disability	4208	MEF2C	ORPHA:228384
HP:0001249	Intellectual disability	4208	MEF2C	OMIM:613443
HP:0001249	Intellectual disability	197258	FCSK	OMIM:618324
HP:0001249	Intellectual disability	9922	IQSEC1	OMIM:618687
HP:0001249	Intellectual disability	388662	SLC6A17	OMIM:616269
HP:0001249	Intellectual disability	388662	SLC6A17	ORPHA:457212
HP:0001249	Intellectual disability	23499	MACF1	OMIM:618325
HP:0001249	Intellectual disability	23499	MACF1	ORPHA:572013
HP:0001249	Intellectual disability	9526	MPDU1	ORPHA:79323
HP:0001249	Intellectual disability	26100	WIPI2	OMIM:618453
HP:0001249	Intellectual disability	51645	PPIL1	OMIM:619301
HP:0001249	Intellectual disability	51362	CDC40	OMIM:619302
HP:0001249	Intellectual disability	5881	RAC3	OMIM:618577
HP:0001249	Intellectual disability	51574	LARP7	OMIM:615071
HP:0001249	Intellectual disability	51574	LARP7	ORPHA:319671
HP:0001249	Intellectual disability	57459	GATAD2B	OMIM:615074
HP:0001249	Intellectual disability	57459	GATAD2B	ORPHA:363686
HP:0001249	Intellectual disability	84894	LINGO1	OMIM:618103
HP:0001249	Intellectual disability	55628	ZNF407	OMIM:619557
HP:0001249	Intellectual disability	79868	ALG13	OMIM:300884
HP:0001249	Intellectual disability	8492	PRSS12	OMIM:249500
HP:0001249	Intellectual disability	79709	COLGALT1	OMIM:618360
HP:0001249	Intellectual disability	23229	ARHGEF9	OMIM:300607
HP:0001249	Intellectual disability	6821	SUOX	OMIM:272300
HP:0001249	Intellectual disability	6045	RNF2	OMIM:619460
HP:0001249	Intellectual disability	1781	DYNC1I2	OMIM:618492
HP:0001249	Intellectual disability	10524	KAT5	OMIM:619103
HP:0001249	Intellectual disability	2009	EML1	OMIM:600348
HP:0001249	Intellectual disability	5281	PIGF	OMIM:619356
HP:0001249	Intellectual disability	1528	CYB5A	ORPHA:621
HP:0001249	Intellectual disability	5058	PAK1	OMIM:618158
HP:0001249	Intellectual disability	57477	SHROOM4	ORPHA:85288
HP:0001249	Intellectual disability	5264	PHYH	ORPHA:773
HP:0001249	Intellectual disability	1315	COPB1	OMIM:619255
HP:0001249	Intellectual disability	81615	TMEM163	OMIM:620243
HP:0001249	Intellectual disability	1496	CTNNA2	OMIM:618174
HP:0001249	Intellectual disability	199857	ALG14	OMIM:619031
HP:0001249	Intellectual disability	27183	VPS4A	OMIM:619273
HP:0001249	Intellectual disability	10134	BCAP31	OMIM:300475
HP:0001249	Intellectual disability	7109	TRAPPC10	OMIM:620027
HP:0001249	Intellectual disability	7109	TRAPPC10	ORPHA:2512
HP:0001249	Intellectual disability	9690	UBE3C	OMIM:620270
HP:0001249	Intellectual disability	4010	LMX1B	ORPHA:495818
HP:0001249	Intellectual disability	5689	PSMB1	OMIM:620038
HP:0001249	Intellectual disability	23431	AP4E1	OMIM:613744
HP:0001249	Intellectual disability	23431	AP4E1	ORPHA:280763
HP:0001249	Intellectual disability	275	AMT	OMIM:620398
HP:0001249	Intellectual disability	7175	TPR	OMIM:620393
HP:0001249	Intellectual disability	894	CCND2	OMIM:615938
HP:0001249	Intellectual disability	51199	NIN	OMIM:614851
HP:0001249	Intellectual disability	51199	NIN	ORPHA:319675
HP:0001249	Intellectual disability	53834	FGFRL1	OMIM:194190
HP:0001249	Intellectual disability	5700	PSMC1	OMIM:620071
HP:0001249	Intellectual disability	6558	SLC12A2	OMIM:619080
HP:0001249	Intellectual disability	54862	CC2D1A	OMIM:608443
HP:0001249	Intellectual disability	55084	SOBP	OMIM:613671
HP:0001249	Intellectual disability	9662	CEP135	OMIM:614673
HP:0001249	Intellectual disability	9662	CEP135	ORPHA:2512
HP:0001249	Intellectual disability	91869	RFT1	OMIM:612015
HP:0001249	Intellectual disability	50	ACO2	OMIM:614559
HP:0001249	Intellectual disability	7849	PAX8	ORPHA:95720
HP:0001249	Intellectual disability	7849	PAX8	ORPHA:95713
HP:0001249	Intellectual disability	7849	PAX8	ORPHA:95712
HP:0001249	Intellectual disability	63035	BCORL1	OMIM:301029
HP:0001249	Intellectual disability	9378	NRXN1	OMIM:614325
HP:0001249	Intellectual disability	55969	RAB5IF	OMIM:616994
HP:0001249	Intellectual disability	163786	SASS6	OMIM:616402
HP:0001249	Intellectual disability	163786	SASS6	ORPHA:2512
HP:0001249	Intellectual disability	64857	PLEKHG2	OMIM:616763
HP:0001249	Intellectual disability	8936	WASF1	OMIM:618707
HP:0001249	Intellectual disability	23630	KCNE5	ORPHA:86818
HP:0001249	Intellectual disability	122553	TRAPPC6B	OMIM:617862
HP:0001249	Intellectual disability	2806	GOT2	OMIM:618721
HP:0001249	Intellectual disability	57731	SPTBN4	OMIM:617519
HP:0001249	Intellectual disability	4176	MCM7	ORPHA:2512
HP:0001249	Intellectual disability	23310	NCAPD3	ORPHA:2512
HP:0001249	Intellectual disability	23141	ANKLE2	ORPHA:2512
HP:0001249	Intellectual disability	1911	PHC1	ORPHA:2512
HP:0001249	Intellectual disability	51075	TMX2	OMIM:618730
HP:0001249	Intellectual disability	55331	ACER3	OMIM:617762
HP:0001249	Intellectual disability	2036	EPB41L1	OMIM:614257
HP:0002403	Positive Romberg sign	9997	SCO2	OMIM:604377
HP:0002403	Positive Romberg sign	9080	CLDN9	OMIM:619093
HP:0002403	Positive Romberg sign	23646	PLD3	OMIM:617770
HP:0002403	Positive Romberg sign	28982	FLVCR1	ORPHA:88628
HP:0002403	Positive Romberg sign	28982	FLVCR1	OMIM:609033
HP:0002403	Positive Romberg sign	80207	OPA3	ORPHA:67036
HP:0002403	Positive Romberg sign	64207	IRF2BPL	OMIM:618088
HP:0002403	Positive Romberg sign	7515	XRCC1	OMIM:617633
HP:0002403	Positive Romberg sign	4358	MPV17	OMIM:256810
HP:0002403	Positive Romberg sign	5357	PLS1	OMIM:618787
HP:0002403	Positive Romberg sign	80208	SPG11	OMIM:616668
HP:0002403	Positive Romberg sign	5428	POLG	OMIM:258450
HP:0002403	Positive Romberg sign	5428	POLG	ORPHA:94125
HP:0002403	Positive Romberg sign	5428	POLG	ORPHA:70595
HP:0002403	Positive Romberg sign	5428	POLG	OMIM:607459
HP:0002403	Positive Romberg sign	5457	POU4F1	ORPHA:314647
HP:0002403	Positive Romberg sign	23261	CAMTA1	ORPHA:314647
HP:0002403	Positive Romberg sign	5293	PIK3CD	ORPHA:221139
HP:0002403	Positive Romberg sign	90417	KNSTRN	ORPHA:221139
HP:0002403	Positive Romberg sign	7276	TTR	OMIM:105210
HP:0002403	Positive Romberg sign	56652	TWNK	ORPHA:70595
HP:0002403	Positive Romberg sign	56652	TWNK	OMIM:607459
HP:0002403	Positive Romberg sign	56652	TWNK	OMIM:616138
HP:0002403	Positive Romberg sign	11128	POLR3A	ORPHA:447896
HP:0002403	Positive Romberg sign	22	ABCB7	OMIM:301310
HP:0002403	Positive Romberg sign	4547	MTTP	ORPHA:14
HP:0002403	Positive Romberg sign	7274	TTPA	ORPHA:96
HP:0002403	Positive Romberg sign	7274	TTPA	OMIM:277460
HP:0002403	Positive Romberg sign	8566	PDXK	OMIM:618511
HP:0002403	Positive Romberg sign	246243	RNASEH1	OMIM:616479
HP:0002403	Positive Romberg sign	5981	RFC1	OMIM:614575
HP:0002403	Positive Romberg sign	79628	SH3TC2	ORPHA:99949
HP:0002403	Positive Romberg sign	9750	RIPOR2	OMIM:616515
HP:0002403	Positive Romberg sign	3708	ITPR1	OMIM:117360
HP:0002403	Positive Romberg sign	81790	RNF170	OMIM:608984
HP:0002403	Positive Romberg sign	4747	NEFL	ORPHA:101085
HP:0002403	Positive Romberg sign	6908	TBP	OMIM:607136
HP:0002403	Positive Romberg sign	9927	MFN2	OMIM:601152
HP:0002403	Positive Romberg sign	9516	LITAF	OMIM:601098
HP:0002404	Thickened superior cerebellar peduncle	80184	CEP290	OMIM:610188
HP:0002404	Thickened superior cerebellar peduncle	51259	TMEM216	OMIM:608091
HP:0002404	Thickened superior cerebellar peduncle	91147	TMEM67	OMIM:610688
HP:0002404	Thickened superior cerebellar peduncle	4867	NPHP1	OMIM:609583
HP:0002011	Morphological central nervous system abnormality	26235	FBXL4	OMIM:615471
HP:0002011	Morphological central nervous system abnormality	51256	TBC1D7	OMIM:248000
HP:0002011	Morphological central nervous system abnormality	8294	H4C9	OMIM:619951
HP:0002011	Morphological central nervous system abnormality	6873	TAF2	OMIM:615599
HP:0002011	Morphological central nervous system abnormality	6873	TAF2	ORPHA:397951
HP:0002011	Morphological central nervous system abnormality	4897	NRCAM	OMIM:619833
HP:0002011	Morphological central nervous system abnormality	2737	GLI3	ORPHA:380
HP:0002011	Morphological central nervous system abnormality	2737	GLI3	OMIM:175700
HP:0002011	Morphological central nervous system abnormality	4867	NPHP1	ORPHA:220497
HP:0002011	Morphological central nervous system abnormality	23426	GRIP1	OMIM:617667
HP:0002011	Morphological central nervous system abnormality	2670	GFAP	OMIM:203450
HP:0002011	Morphological central nervous system abnormality	2670	GFAP	ORPHA:363717
HP:0002011	Morphological central nervous system abnormality	55650	PIGV	OMIM:239300
HP:0002011	Morphological central nervous system abnormality	65082	VPS33A	ORPHA:505248
HP:0002011	Morphological central nervous system abnormality	25885	POLR1A	OMIM:616462
HP:0002011	Morphological central nervous system abnormality	4853	NOTCH2	OMIM:102500
HP:0002011	Morphological central nervous system abnormality	4853	NOTCH2	ORPHA:955
HP:0002011	Morphological central nervous system abnormality	56172	ANKH	OMIM:123000
HP:0002011	Morphological central nervous system abnormality	9326	ZNHIT3	ORPHA:2836
HP:0002011	Morphological central nervous system abnormality	3339	HSPG2	ORPHA:1865
HP:0002011	Morphological central nervous system abnormality	9401	RECQL4	OMIM:218600
HP:0002011	Morphological central nervous system abnormality	4763	NF1	ORPHA:363700
HP:0002011	Morphological central nervous system abnormality	4763	NF1	OMIM:162200
HP:0002011	Morphological central nervous system abnormality	5528	PPP2R5D	OMIM:616355
HP:0002011	Morphological central nervous system abnormality	8036	SHOC2	ORPHA:2701
HP:0002011	Morphological central nervous system abnormality	5500	PPP1CB	ORPHA:2701
HP:0002011	Morphological central nervous system abnormality	2253	FGF8	ORPHA:93926
HP:0002011	Morphological central nervous system abnormality	2253	FGF8	ORPHA:93924
HP:0002011	Morphological central nervous system abnormality	2253	FGF8	ORPHA:93925
HP:0002011	Morphological central nervous system abnormality	2253	FGF8	ORPHA:220386
HP:0002011	Morphological central nervous system abnormality	6496	SIX3	ORPHA:93926
HP:0002011	Morphological central nervous system abnormality	6496	SIX3	ORPHA:93924
HP:0002011	Morphological central nervous system abnormality	6496	SIX3	ORPHA:93925
HP:0002011	Morphological central nervous system abnormality	6496	SIX3	ORPHA:220386
HP:0002011	Morphological central nervous system abnormality	7050	TGIF1	ORPHA:93926
HP:0002011	Morphological central nervous system abnormality	7050	TGIF1	ORPHA:93924
HP:0002011	Morphological central nervous system abnormality	7050	TGIF1	ORPHA:93925
HP:0002011	Morphological central nervous system abnormality	7050	TGIF1	ORPHA:220386
HP:0002011	Morphological central nervous system abnormality	4838	NODAL	ORPHA:93926
HP:0002011	Morphological central nervous system abnormality	4838	NODAL	ORPHA:93924
HP:0002011	Morphological central nervous system abnormality	4838	NODAL	ORPHA:93925
HP:0002011	Morphological central nervous system abnormality	4838	NODAL	ORPHA:220386
HP:0002011	Morphological central nervous system abnormality	6469	SHH	ORPHA:93926
HP:0002011	Morphological central nervous system abnormality	6469	SHH	ORPHA:93924
HP:0002011	Morphological central nervous system abnormality	6469	SHH	ORPHA:93925
HP:0002011	Morphological central nervous system abnormality	6469	SHH	ORPHA:220386
HP:0002011	Morphological central nervous system abnormality	7546	ZIC2	ORPHA:93926
HP:0002011	Morphological central nervous system abnormality	7546	ZIC2	ORPHA:93924
HP:0002011	Morphological central nervous system abnormality	7546	ZIC2	ORPHA:93925
HP:0002011	Morphological central nervous system abnormality	7546	ZIC2	OMIM:609637
HP:0002011	Morphological central nervous system abnormality	7546	ZIC2	ORPHA:220386
HP:0002011	Morphological central nervous system abnormality	2619	GAS1	ORPHA:93926
HP:0002011	Morphological central nervous system abnormality	2619	GAS1	ORPHA:93924
HP:0002011	Morphological central nervous system abnormality	2619	GAS1	ORPHA:93925
HP:0002011	Morphological central nervous system abnormality	2619	GAS1	ORPHA:220386
HP:0002011	Morphological central nervous system abnormality	84976	DISP1	ORPHA:93926
HP:0002011	Morphological central nervous system abnormality	84976	DISP1	ORPHA:93924
HP:0002011	Morphological central nervous system abnormality	84976	DISP1	ORPHA:93925
HP:0002011	Morphological central nervous system abnormality	84976	DISP1	ORPHA:220386
HP:0002011	Morphological central nervous system abnormality	8928	FOXH1	ORPHA:93926
HP:0002011	Morphological central nervous system abnormality	8928	FOXH1	ORPHA:93924
HP:0002011	Morphological central nervous system abnormality	8928	FOXH1	ORPHA:93925
HP:0002011	Morphological central nervous system abnormality	8928	FOXH1	ORPHA:220386
HP:0002011	Morphological central nervous system abnormality	6997	CRIPTO	ORPHA:93926
HP:0002011	Morphological central nervous system abnormality	6997	CRIPTO	ORPHA:93924
HP:0002011	Morphological central nervous system abnormality	6997	CRIPTO	ORPHA:93925
HP:0002011	Morphological central nervous system abnormality	6997	CRIPTO	ORPHA:220386
HP:0002011	Morphological central nervous system abnormality	5727	PTCH1	ORPHA:93926
HP:0002011	Morphological central nervous system abnormality	5727	PTCH1	ORPHA:93924
HP:0002011	Morphological central nervous system abnormality	5727	PTCH1	ORPHA:93925
HP:0002011	Morphological central nervous system abnormality	5727	PTCH1	OMIM:610828
HP:0002011	Morphological central nervous system abnormality	5727	PTCH1	ORPHA:377
HP:0002011	Morphological central nervous system abnormality	5727	PTCH1	OMIM:109400
HP:0002011	Morphological central nervous system abnormality	5727	PTCH1	ORPHA:77301
HP:0002011	Morphological central nervous system abnormality	5727	PTCH1	ORPHA:220386
HP:0002011	Morphological central nervous system abnormality	50937	CDON	ORPHA:93926
HP:0002011	Morphological central nervous system abnormality	50937	CDON	ORPHA:93924
HP:0002011	Morphological central nervous system abnormality	50937	CDON	ORPHA:93925
HP:0002011	Morphological central nervous system abnormality	50937	CDON	ORPHA:220386
HP:0002011	Morphological central nervous system abnormality	2260	FGFR1	ORPHA:93924
HP:0002011	Morphological central nervous system abnormality	2260	FGFR1	OMIM:101600
HP:0002011	Morphological central nervous system abnormality	2260	FGFR1	OMIM:613001
HP:0002011	Morphological central nervous system abnormality	2260	FGFR1	ORPHA:220386
HP:0002011	Morphological central nervous system abnormality	10735	STAG2	ORPHA:93925
HP:0002011	Morphological central nervous system abnormality	10735	STAG2	ORPHA:220386
HP:0002011	Morphological central nervous system abnormality	3039	HBA1	ORPHA:163596
HP:0002011	Morphological central nervous system abnormality	3040	HBA2	ORPHA:163596
HP:0002011	Morphological central nervous system abnormality	63901	FAM111A	OMIM:602361
HP:0002011	Morphological central nervous system abnormality	1499	CTNNB1	ORPHA:54595
HP:0002011	Morphological central nervous system abnormality	3981	LIG4	ORPHA:235
HP:0002011	Morphological central nervous system abnormality	54888	NSUN2	ORPHA:235
HP:0002011	Morphological central nervous system abnormality	5518	PPP2R1A	OMIM:616362
HP:0002011	Morphological central nervous system abnormality	5518	PPP2R1A	ORPHA:457284
HP:0002011	Morphological central nervous system abnormality	5034	P4HB	OMIM:112240
HP:0002011	Morphological central nervous system abnormality	55621	TRMT1	OMIM:618302
HP:0002011	Morphological central nervous system abnormality	1182	CLCN3	OMIM:619512
HP:0002011	Morphological central nervous system abnormality	54539	NDUFB11	OMIM:309801
HP:0002011	Morphological central nervous system abnormality	54539	NDUFB11	ORPHA:2556
HP:0002011	Morphological central nervous system abnormality	1349	COX7B	OMIM:309801
HP:0002011	Morphological central nervous system abnormality	1349	COX7B	ORPHA:2556
HP:0002011	Morphological central nervous system abnormality	3052	HCCS	OMIM:309801
HP:0002011	Morphological central nervous system abnormality	3052	HCCS	ORPHA:2556
HP:0002011	Morphological central nervous system abnormality	55699	IARS2	OMIM:616007
HP:0002011	Morphological central nervous system abnormality	285362	SUMF1	OMIM:272200
HP:0002011	Morphological central nervous system abnormality	285362	SUMF1	ORPHA:585
HP:0002011	Morphological central nervous system abnormality	7547	ZIC3	OMIM:314390
HP:0002011	Morphological central nervous system abnormality	7547	ZIC3	OMIM:306955
HP:0002011	Morphological central nervous system abnormality	2187	FANCB	OMIM:314390
HP:0002011	Morphological central nervous system abnormality	2187	FANCB	OMIM:300514
HP:0002011	Morphological central nervous system abnormality	2187	FANCB	ORPHA:84
HP:0002011	Morphological central nervous system abnormality	2187	FANCB	ORPHA:3412
HP:0002011	Morphological central nervous system abnormality	30813	VSX1	OMIM:614195
HP:0002011	Morphological central nervous system abnormality	2263	FGFR2	OMIM:123790
HP:0002011	Morphological central nervous system abnormality	2263	FGFR2	OMIM:101200
HP:0002011	Morphological central nervous system abnormality	2263	FGFR2	OMIM:123500
HP:0002011	Morphological central nervous system abnormality	2263	FGFR2	ORPHA:207
HP:0002011	Morphological central nervous system abnormality	2263	FGFR2	OMIM:101600
HP:0002011	Morphological central nervous system abnormality	2263	FGFR2	ORPHA:87
HP:0002011	Morphological central nervous system abnormality	2263	FGFR2	ORPHA:93259
HP:0002011	Morphological central nervous system abnormality	2263	FGFR2	OMIM:207410
HP:0002011	Morphological central nervous system abnormality	2263	FGFR2	ORPHA:1555
HP:0002011	Morphological central nervous system abnormality	2683	B4GALT1	ORPHA:79332
HP:0002011	Morphological central nervous system abnormality	2683	B4GALT1	OMIM:607091
HP:0002011	Morphological central nervous system abnormality	8643	PTCH2	ORPHA:377
HP:0002011	Morphological central nervous system abnormality	54941	RNF125	OMIM:616260
HP:0002011	Morphological central nervous system abnormality	55120	FANCL	OMIM:614083
HP:0002011	Morphological central nervous system abnormality	55120	FANCL	ORPHA:84
HP:0002011	Morphological central nervous system abnormality	79989	IFT56	OMIM:619534
HP:0002011	Morphological central nervous system abnormality	284111	SLC13A5	ORPHA:1946
HP:0002011	Morphological central nervous system abnormality	79641	ROGDI	ORPHA:1946
HP:0002011	Morphological central nervous system abnormality	81839	VANGL1	OMIM:600145
HP:0002011	Morphological central nervous system abnormality	81839	VANGL1	OMIM:182940
HP:0002011	Morphological central nervous system abnormality	3897	L1CAM	OMIM:304100
HP:0002011	Morphological central nervous system abnormality	3897	L1CAM	OMIM:307000
HP:0002011	Morphological central nervous system abnormality	3897	L1CAM	ORPHA:2182
HP:0002011	Morphological central nervous system abnormality	3897	L1CAM	OMIM:303350
HP:0002011	Morphological central nervous system abnormality	51645	PPIL1	OMIM:619301
HP:0002011	Morphological central nervous system abnormality	51362	CDC40	OMIM:619302
HP:0002011	Morphological central nervous system abnormality	5881	RAC3	OMIM:618577
HP:0002011	Morphological central nervous system abnormality	133686	NADK2	OMIM:616034
HP:0002011	Morphological central nervous system abnormality	7046	TGFBR1	OMIM:609192
HP:0002011	Morphological central nervous system abnormality	835	CASP2	OMIM:620653
HP:0002011	Morphological central nervous system abnormality	140679	SLC32A1	OMIM:620774
HP:0002011	Morphological central nervous system abnormality	8905	AP1S2	OMIM:304340
HP:0002011	Morphological central nervous system abnormality	8905	AP1S2	ORPHA:85335
HP:0002011	Morphological central nervous system abnormality	1801	DPH1	ORPHA:459061
HP:0002011	Morphological central nervous system abnormality	1802	DPH2	ORPHA:459061
HP:0002011	Morphological central nervous system abnormality	51422	PRKAG2	OMIM:261740
HP:0002011	Morphological central nervous system abnormality	6091	ROBO1	OMIM:620305
HP:0002011	Morphological central nervous system abnormality	84320	ACBD6	OMIM:620785
HP:0002011	Morphological central nervous system abnormality	6347	CCL2	OMIM:182940
HP:0002011	Morphological central nervous system abnormality	80199	FUZ	OMIM:182940
HP:0002011	Morphological central nervous system abnormality	6862	TBXT	OMIM:182940
HP:0002011	Morphological central nervous system abnormality	10312	TCIRG1	ORPHA:667
HP:0002011	Morphological central nervous system abnormality	10312	TCIRG1	OMIM:259700
HP:0002011	Morphological central nervous system abnormality	1186	CLCN7	ORPHA:667
HP:0002011	Morphological central nervous system abnormality	1186	CLCN7	ORPHA:53
HP:0002011	Morphological central nervous system abnormality	29887	SNX10	ORPHA:667
HP:0002011	Morphological central nervous system abnormality	8600	TNFSF11	ORPHA:667
HP:0002011	Morphological central nervous system abnormality	8600	TNFSF11	OMIM:259710
HP:0002011	Morphological central nervous system abnormality	128869	PIGU	OMIM:618590
HP:0002011	Morphological central nervous system abnormality	4967	OGDH	ORPHA:31
HP:0002011	Morphological central nervous system abnormality	6299	SALL1	OMIM:107480
HP:0002011	Morphological central nervous system abnormality	9871	SEC24D	OMIM:616294
HP:0002011	Morphological central nervous system abnormality	8882	ZPR1	OMIM:619321
HP:0002011	Morphological central nervous system abnormality	7248	TSC1	ORPHA:538
HP:0002011	Morphological central nervous system abnormality	7249	TSC2	ORPHA:538
HP:0002011	Morphological central nervous system abnormality	79068	FTO	OMIM:612938
HP:0002011	Morphological central nervous system abnormality	56975	FAM20C	OMIM:259775
HP:0002011	Morphological central nervous system abnormality	4784	NFIX	OMIM:602535
HP:0002011	Morphological central nervous system abnormality	57551	TAOK1	OMIM:619575
HP:0002011	Morphological central nervous system abnormality	340665	CYP26C1	ORPHA:398189
HP:0002011	Morphological central nervous system abnormality	5831	PYCR1	OMIM:612940
HP:0002011	Morphological central nervous system abnormality	2077	ERF	ORPHA:207
HP:0002011	Morphological central nervous system abnormality	1312	COMT	ORPHA:567
HP:0002011	Morphological central nervous system abnormality	221037	JMJD1C	ORPHA:567
HP:0002011	Morphological central nervous system abnormality	2812	GP1BB	ORPHA:567
HP:0002011	Morphological central nervous system abnormality	6239	RREB1	ORPHA:567
HP:0002011	Morphological central nervous system abnormality	6899	TBX1	ORPHA:567
HP:0002011	Morphological central nervous system abnormality	7290	HIRA	ORPHA:567
HP:0002011	Morphological central nervous system abnormality	9632	SEC24C	ORPHA:567
HP:0002011	Morphological central nervous system abnormality	7353	UFD1	ORPHA:567
HP:0002011	Morphological central nervous system abnormality	421	ARVCF	ORPHA:567
HP:0002011	Morphological central nervous system abnormality	79770	TXNDC15	ORPHA:564
HP:0002011	Morphological central nervous system abnormality	23258	DENND5A	OMIM:617281
HP:0002011	Morphological central nervous system abnormality	10013	HDAC6	OMIM:300863
HP:0002011	Morphological central nervous system abnormality	10013	HDAC6	ORPHA:163966
HP:0002011	Morphological central nervous system abnormality	5573	PRKAR1A	OMIM:101800
HP:0002011	Morphological central nervous system abnormality	84065	TMEM222	OMIM:619470
HP:0002011	Morphological central nervous system abnormality	54809	SAMD9	OMIM:617053
HP:0002011	Morphological central nervous system abnormality	145173	B3GLCT	OMIM:261540
HP:0002011	Morphological central nervous system abnormality	145173	B3GLCT	ORPHA:709
HP:0002011	Morphological central nervous system abnormality	6711	SPTBN1	OMIM:619475
HP:0002011	Morphological central nervous system abnormality	6608	SMO	OMIM:241800
HP:0002011	Morphological central nervous system abnormality	6608	SMO	ORPHA:2495
HP:0002011	Morphological central nervous system abnormality	4534	MTM1	OMIM:310400
HP:0002011	Morphological central nervous system abnormality	10682	EBP	OMIM:300960
HP:0002011	Morphological central nervous system abnormality	10682	EBP	ORPHA:401973
HP:0002011	Morphological central nervous system abnormality	55640	FLVCR2	OMIM:225790
HP:0002011	Morphological central nervous system abnormality	3516	RBPJ	ORPHA:974
HP:0002011	Morphological central nervous system abnormality	4851	NOTCH1	ORPHA:974
HP:0002011	Morphological central nervous system abnormality	57514	ARHGAP31	ORPHA:974
HP:0002011	Morphological central nervous system abnormality	57572	DOCK6	ORPHA:974
HP:0002011	Morphological central nervous system abnormality	57572	DOCK6	OMIM:614219
HP:0002011	Morphological central nervous system abnormality	285203	EOGT	ORPHA:974
HP:0002011	Morphological central nervous system abnormality	23387	SIK3	OMIM:618162
HP:0002011	Morphological central nervous system abnormality	2177	FANCD2	OMIM:227646
HP:0002011	Morphological central nervous system abnormality	2177	FANCD2	ORPHA:84
HP:0002011	Morphological central nervous system abnormality	26137	ZBTB20	ORPHA:3042
HP:0002011	Morphological central nervous system abnormality	55898	UNC45A	OMIM:619377
HP:0002011	Morphological central nervous system abnormality	5660	PSAP	ORPHA:206436
HP:0002011	Morphological central nervous system abnormality	6913	TBX15	OMIM:260660
HP:0002011	Morphological central nervous system abnormality	1496	CTNNA2	OMIM:618174
HP:0002011	Morphological central nervous system abnormality	55315	SLC29A3	ORPHA:168569
HP:0002011	Morphological central nervous system abnormality	10535	RNASEH2A	OMIM:610333
HP:0002011	Morphological central nervous system abnormality	8085	KMT2D	OMIM:147920
HP:0002011	Morphological central nervous system abnormality	8085	KMT2D	ORPHA:2322
HP:0002011	Morphological central nervous system abnormality	7403	KDM6A	OMIM:147920
HP:0002011	Morphological central nervous system abnormality	7403	KDM6A	ORPHA:2322
HP:0002011	Morphological central nervous system abnormality	10262	SF3B4	OMIM:154400
HP:0002011	Morphological central nervous system abnormality	894	CCND2	ORPHA:83473
HP:0002011	Morphological central nervous system abnormality	894	CCND2	OMIM:615938
HP:0002011	Morphological central nervous system abnormality	5296	PIK3R2	ORPHA:83473
HP:0002011	Morphological central nervous system abnormality	5296	PIK3R2	OMIM:603387
HP:0002011	Morphological central nervous system abnormality	10992	SF3B2	OMIM:164210
HP:0002011	Morphological central nervous system abnormality	5447	POR	ORPHA:95699
HP:0002011	Morphological central nervous system abnormality	5447	POR	OMIM:207410
HP:0002011	Morphological central nervous system abnormality	501	ALDH7A1	OMIM:266100
HP:0002011	Morphological central nervous system abnormality	22858	CILK1	OMIM:612651
HP:0002011	Morphological central nervous system abnormality	29072	SETD2	OMIM:620157
HP:0002011	Morphological central nervous system abnormality	29072	SETD2	OMIM:620155
HP:0002011	Morphological central nervous system abnormality	26153	KIF26A	OMIM:620156
HP:0002011	Morphological central nervous system abnormality	8792	TNFRSF11A	OMIM:612301
HP:0002011	Morphological central nervous system abnormality	93627	TBCK	OMIM:616900
HP:0002011	Morphological central nervous system abnormality	114034	TOE1	OMIM:614969
HP:0002011	Morphological central nervous system abnormality	672	BRCA1	ORPHA:84
HP:0002011	Morphological central nervous system abnormality	10459	MAD2L2	ORPHA:84
HP:0002011	Morphological central nervous system abnormality	7516	XRCC2	ORPHA:84
HP:0002011	Morphological central nervous system abnormality	29089	UBE2T	ORPHA:84
HP:0002011	Morphological central nervous system abnormality	675	BRCA2	ORPHA:84
HP:0002011	Morphological central nervous system abnormality	2175	FANCA	ORPHA:84
HP:0002011	Morphological central nervous system abnormality	2176	FANCC	ORPHA:84
HP:0002011	Morphological central nervous system abnormality	2178	FANCE	ORPHA:84
HP:0002011	Morphological central nervous system abnormality	2188	FANCF	ORPHA:84
HP:0002011	Morphological central nervous system abnormality	2189	FANCG	ORPHA:84
HP:0002011	Morphological central nervous system abnormality	5889	RAD51C	ORPHA:84
HP:0002011	Morphological central nervous system abnormality	55159	RFWD3	ORPHA:84
HP:0002011	Morphological central nervous system abnormality	83990	BRIP1	ORPHA:84
HP:0002011	Morphological central nervous system abnormality	57697	FANCM	ORPHA:84
HP:0002011	Morphological central nervous system abnormality	79728	PALB2	ORPHA:84
HP:0002011	Morphological central nervous system abnormality	84464	SLX4	ORPHA:84
HP:0002011	Morphological central nervous system abnormality	55215	FANCI	ORPHA:84
HP:0002011	Morphological central nervous system abnormality	83550	GPR101	ORPHA:963
HP:0002011	Morphological central nervous system abnormality	9049	AIP	ORPHA:963
HP:0002011	Morphological central nervous system abnormality	5340	PLG	ORPHA:722
HP:0002011	Morphological central nervous system abnormality	5340	PLG	OMIM:217090
HP:0002011	Morphological central nervous system abnormality	1717	DHCR7	OMIM:270400
HP:0002011	Morphological central nervous system abnormality	9896	FIG4	ORPHA:3472
HP:0002011	Morphological central nervous system abnormality	55697	VAC14	ORPHA:3472
HP:0002011	Morphological central nervous system abnormality	3265	HRAS	OMIM:218040
HP:0002011	Morphological central nervous system abnormality	2200	FBN1	OMIM:616914
HP:0002011	Morphological central nervous system abnormality	3192	HNRNPU	ORPHA:238769
HP:0002011	Morphological central nervous system abnormality	4593	MUSK	OMIM:208150
HP:0002011	Morphological central nervous system abnormality	5063	PAK3	OMIM:300558
HP:0002011	Morphological central nervous system abnormality	64327	LMBR1	ORPHA:2378
HP:0002011	Morphological central nervous system abnormality	4519	MT-CYB	ORPHA:137675
HP:0002011	Morphological central nervous system abnormality	8314	BAP1	ORPHA:2495
HP:0002011	Morphological central nervous system abnormality	84231	TRAF7	ORPHA:2495
HP:0002011	Morphological central nervous system abnormality	7015	TERT	ORPHA:2495
HP:0002011	Morphological central nervous system abnormality	6605	SMARCE1	ORPHA:2495
HP:0002011	Morphological central nervous system abnormality	11128	POLR3A	OMIM:264090
HP:0002011	Morphological central nervous system abnormality	11128	POLR3A	ORPHA:3455
HP:0002011	Morphological central nervous system abnormality	4094	MAF	ORPHA:1272
HP:0002011	Morphological central nervous system abnormality	2050	EPHB4	ORPHA:137667
HP:0002011	Morphological central nervous system abnormality	3662	IRF4	ORPHA:3452
HP:0002011	Morphological central nervous system abnormality	6949	TCOF1	OMIM:154500
HP:0002011	Morphological central nervous system abnormality	440193	CCDC88C	OMIM:236600
HP:0002011	Morphological central nervous system abnormality	7048	TGFBR2	OMIM:610168
HP:0002011	Morphological central nervous system abnormality	701	BUB1B	OMIM:257300
HP:0002011	Morphological central nervous system abnormality	2776	GNAQ	ORPHA:3205
HP:0002011	Morphological central nervous system abnormality	28962	OSTM1	OMIM:259720
HP:0002011	Morphological central nervous system abnormality	157570	ESCO2	OMIM:268300
HP:0002011	Morphological central nervous system abnormality	84667	HES7	OMIM:613686
HP:0002011	Morphological central nervous system abnormality	51134	CEP83	OMIM:615862
HP:0002011	Morphological central nervous system abnormality	2719	GPC3	OMIM:312870
HP:0002011	Morphological central nervous system abnormality	2239	GPC4	OMIM:312870
HP:0002011	Morphological central nervous system abnormality	63895	PIEZO2	ORPHA:2461
HP:0002011	Morphological central nervous system abnormality	579	NKX3-2	OMIM:613330
HP:0002011	Morphological central nervous system abnormality	26160	IFT172	OMIM:615630
HP:0002011	Morphological central nervous system abnormality	7473	WNT3	ORPHA:3301
HP:0002011	Morphological central nervous system abnormality	7473	WNT3	OMIM:273395
HP:0002011	Morphological central nervous system abnormality	340419	RSPO2	ORPHA:3301
HP:0002011	Morphological central nervous system abnormality	9496	TBX4	ORPHA:3301
HP:0002011	Morphological central nervous system abnormality	411	ARSB	OMIM:253200
HP:0002011	Morphological central nervous system abnormality	4854	NOTCH3	OMIM:130720
HP:0002011	Morphological central nervous system abnormality	4750	NEK1	OMIM:252100
HP:0002011	Morphological central nervous system abnormality	6657	SOX2	ORPHA:77298
HP:0002011	Morphological central nervous system abnormality	5604	MAP2K1	ORPHA:1340
HP:0002011	Morphological central nervous system abnormality	5605	MAP2K2	ORPHA:1340
HP:0002011	Morphological central nervous system abnormality	3845	KRAS	ORPHA:1340
HP:0002011	Morphological central nervous system abnormality	1063	CENPF	OMIM:243605
HP:0002011	Morphological central nervous system abnormality	64093	SMOC1	ORPHA:1106
HP:0002011	Morphological central nervous system abnormality	124997	WDR81	OMIM:617967
HP:0002011	Morphological central nervous system abnormality	80781	COL18A1	ORPHA:1571
HP:0002011	Morphological central nervous system abnormality	5062	PAK2	ORPHA:1571
HP:0002011	Morphological central nervous system abnormality	4758	NEU1	ORPHA:93400
HP:0002011	Morphological central nervous system abnormality	64840	PORCN	OMIM:305600
HP:0002011	Morphological central nervous system abnormality	7874	USP7	ORPHA:500055
HP:0002011	Morphological central nervous system abnormality	9791	PTDSS1	ORPHA:2658
HP:0002011	Morphological central nervous system abnormality	23040	MYT1L	OMIM:616521
HP:0002011	Morphological central nervous system abnormality	7305	TYROBP	ORPHA:2770
HP:0002011	Morphological central nervous system abnormality	54209	TREM2	ORPHA:2770
HP:0002011	Morphological central nervous system abnormality	112752	IFT43	OMIM:617866
HP:0002011	Morphological central nervous system abnormality	3110	MNX1	ORPHA:1552
HP:0002011	Morphological central nervous system abnormality	2068	ERCC2	ORPHA:220295
HP:0002011	Morphological central nervous system abnormality	2073	ERCC5	ORPHA:220295
HP:0002011	Morphological central nervous system abnormality	139285	AMER1	OMIM:300373
HP:0002011	Morphological central nervous system abnormality	6497	SKI	OMIM:182212
HP:0002011	Morphological central nervous system abnormality	26503	SLC17A5	OMIM:269920
HP:0002011	Morphological central nervous system abnormality	2990	GUSB	OMIM:253220
HP:0002011	Morphological central nervous system abnormality	8243	SMC1A	ORPHA:220386
HP:0002011	Morphological central nervous system abnormality	2639	GCDH	OMIM:231670
HP:0002011	Morphological central nervous system abnormality	9469	CHST3	OMIM:245600
HP:0002011	Morphological central nervous system abnormality	26229	B3GAT3	OMIM:245600
HP:0002011	Morphological central nervous system abnormality	5052	PRDX1	OMIM:277400
HP:0002011	Morphological central nervous system abnormality	1139	CHRNA7	ORPHA:199318
HP:0002011	Morphological central nervous system abnormality	51569	UFM1	OMIM:617899
HP:0002011	Morphological central nervous system abnormality	6228	RPS23	OMIM:617412
HP:0002011	Morphological central nervous system abnormality	7360	UGP2	OMIM:618744
HP:0002011	Morphological central nervous system abnormality	79029	AFG2B	OMIM:619616
HP:0002011	Morphological central nervous system abnormality	10111	RAD50	OMIM:613078
HP:0002011	Morphological central nervous system abnormality	55681	SCYL2	OMIM:618766
HP:0002011	Morphological central nervous system abnormality	85465	SELENOI	OMIM:618768
HP:0002011	Morphological central nervous system abnormality	85465	SELENOI	ORPHA:506353
HP:0002011	Morphological central nervous system abnormality	89910	UBE3B	ORPHA:2707
HP:0002011	Morphological central nervous system abnormality	89910	UBE3B	OMIM:244450
HP:0002011	Morphological central nervous system abnormality	6905	TBCE	OMIM:241410
HP:0002011	Morphological central nervous system abnormality	6905	TBCE	ORPHA:2323
HP:0002011	Morphological central nervous system abnormality	6905	TBCE	ORPHA:93324
HP:0002011	Morphological central nervous system abnormality	51633	OTUD6B	OMIM:617452
HP:0002011	Morphological central nervous system abnormality	51633	OTUD6B	ORPHA:505237
HP:0002011	Morphological central nervous system abnormality	2232	FDXR	ORPHA:543470
HP:0002011	Morphological central nervous system abnormality	2904	GRIN2B	OMIM:616139
HP:0002011	Morphological central nervous system abnormality	2904	GRIN2B	OMIM:613970
HP:0002011	Morphological central nervous system abnormality	79971	WLS	OMIM:619648
HP:0002011	Morphological central nervous system abnormality	54916	TMEM260	OMIM:617478
HP:0002011	Morphological central nervous system abnormality	4733	DRG1	OMIM:620641
HP:0002011	Morphological central nervous system abnormality	7873	MANF	OMIM:620651
HP:0002011	Morphological central nervous system abnormality	3480	IGF1R	ORPHA:73273
HP:0002011	Morphological central nervous system abnormality	3480	IGF1R	OMIM:270450
HP:0002011	Morphological central nervous system abnormality	3479	IGF1	ORPHA:73272
HP:0002011	Morphological central nervous system abnormality	3479	IGF1	OMIM:608747
HP:0002011	Morphological central nervous system abnormality	3155	HMGCL	ORPHA:20
HP:0002011	Morphological central nervous system abnormality	3155	HMGCL	OMIM:246450
HP:0002011	Morphological central nervous system abnormality	4598	MVK	ORPHA:29
HP:0002011	Morphological central nervous system abnormality	4598	MVK	OMIM:610377
HP:0002011	Morphological central nervous system abnormality	23516	SLC39A14	OMIM:617013
HP:0002011	Morphological central nervous system abnormality	56945	MRPS22	OMIM:611719
HP:0002011	Morphological central nervous system abnormality	56945	MRPS22	ORPHA:243
HP:0002011	Morphological central nervous system abnormality	27125	AFF4	ORPHA:444077
HP:0002011	Morphological central nervous system abnormality	27125	AFF4	OMIM:616368
HP:0002011	Morphological central nervous system abnormality	23114	NFASC	OMIM:618356
HP:0002011	Morphological central nervous system abnormality	154881	KCTD7	OMIM:611726
HP:0002011	Morphological central nervous system abnormality	154881	KCTD7	ORPHA:263516
HP:0002011	Morphological central nervous system abnormality	55777	MBD5	OMIM:156200
HP:0002011	Morphological central nervous system abnormality	55777	MBD5	ORPHA:228402
HP:0002011	Morphological central nervous system abnormality	2334	AFF2	OMIM:309548
HP:0002011	Morphological central nervous system abnormality	7703	PCGF2	OMIM:618371
HP:0002011	Morphological central nervous system abnormality	27316	RBMX	OMIM:309555
HP:0002011	Morphological central nervous system abnormality	8802	SUCLG1	ORPHA:17
HP:0002011	Morphological central nervous system abnormality	51729	WBP11	OMIM:619227
HP:0002011	Morphological central nervous system abnormality	2707	GJB3	ORPHA:317
HP:0002011	Morphological central nervous system abnormality	2531	KDSR	ORPHA:317
HP:0002011	Morphological central nervous system abnormality	127534	GJB4	ORPHA:317
HP:0002011	Morphological central nervous system abnormality	83480	PUS3	OMIM:617051
HP:0002011	Morphological central nervous system abnormality	9757	KMT2B	ORPHA:589618
HP:0002011	Morphological central nervous system abnormality	9757	KMT2B	OMIM:619934
HP:0002011	Morphological central nervous system abnormality	9757	KMT2B	OMIM:617284
HP:0002011	Morphological central nervous system abnormality	84265	POLR3GL	OMIM:619234
HP:0002011	Morphological central nervous system abnormality	134218	DNAJC21	OMIM:617052
HP:0002011	Morphological central nervous system abnormality	7204	TRIO	OMIM:617061
HP:0002011	Morphological central nervous system abnormality	23112	TNRC6B	OMIM:619243
HP:0002011	Morphological central nervous system abnormality	201595	STT3B	ORPHA:370924
HP:0002011	Morphological central nervous system abnormality	201595	STT3B	OMIM:615597
HP:0002011	Morphological central nervous system abnormality	10436	EMG1	OMIM:211180
HP:0002011	Morphological central nervous system abnormality	10436	EMG1	ORPHA:1270
HP:0002011	Morphological central nervous system abnormality	6748	SSR4	ORPHA:370927
HP:0002011	Morphological central nervous system abnormality	6748	SSR4	OMIM:300934
HP:0002011	Morphological central nervous system abnormality	10084	PQBP1	OMIM:309500
HP:0002011	Morphological central nervous system abnormality	10084	PQBP1	ORPHA:93950
HP:0002011	Morphological central nervous system abnormality	10084	PQBP1	ORPHA:93946
HP:0002011	Morphological central nervous system abnormality	10084	PQBP1	ORPHA:93947
HP:0002011	Morphological central nervous system abnormality	8242	KDM5C	ORPHA:85279
HP:0002011	Morphological central nervous system abnormality	8242	KDM5C	OMIM:300534
HP:0002011	Morphological central nervous system abnormality	89970	RSPRY1	ORPHA:457395
HP:0002011	Morphological central nervous system abnormality	89970	RSPRY1	OMIM:616723
HP:0002011	Morphological central nervous system abnormality	54187	NANS	OMIM:610442
HP:0002011	Morphological central nervous system abnormality	1968	EIF2S3	ORPHA:85282
HP:0002011	Morphological central nervous system abnormality	1968	EIF2S3	OMIM:300148
HP:0002011	Morphological central nervous system abnormality	64131	XYLT1	ORPHA:370930
HP:0002011	Morphological central nervous system abnormality	64131	XYLT1	OMIM:615777
HP:0002011	Morphological central nervous system abnormality	25886	POC1A	OMIM:614813
HP:0002011	Morphological central nervous system abnormality	5138	PDE2A	OMIM:619150
HP:0002011	Morphological central nervous system abnormality	128	ADH5	OMIM:619151
HP:0002011	Morphological central nervous system abnormality	6535	SLC6A8	OMIM:300352
HP:0002011	Morphological central nervous system abnormality	6535	SLC6A8	ORPHA:52503
HP:0002011	Morphological central nervous system abnormality	26960	NBEA	OMIM:619157
HP:0002011	Morphological central nervous system abnormality	613	BCR	ORPHA:261330
HP:0002011	Morphological central nervous system abnormality	1399	CRKL	ORPHA:261330
HP:0002011	Morphological central nervous system abnormality	5594	MAPK1	ORPHA:261330
HP:0002011	Morphological central nervous system abnormality	5594	MAPK1	OMIM:619087
HP:0002011	Morphological central nervous system abnormality	2314	FLII	ORPHA:819
HP:0002011	Morphological central nervous system abnormality	23096	IQSEC2	ORPHA:819
HP:0002011	Morphological central nervous system abnormality	10522	DEAF1	ORPHA:819
HP:0002011	Morphological central nervous system abnormality	10522	DEAF1	ORPHA:468620
HP:0002011	Morphological central nervous system abnormality	150468	CKAP2L	ORPHA:3255
HP:0002011	Morphological central nervous system abnormality	150468	CKAP2L	OMIM:272440
HP:0002011	Morphological central nervous system abnormality	3242	HPD	OMIM:140350
HP:0002011	Morphological central nervous system abnormality	338657	CENATAC	OMIM:620153
HP:0002011	Morphological central nervous system abnormality	25778	DSTYK	OMIM:270750
HP:0002011	Morphological central nervous system abnormality	56992	KIF15	ORPHA:261323
HP:0002011	Morphological central nervous system abnormality	56992	KIF15	OMIM:619981
HP:0002011	Morphological central nervous system abnormality	4718	NDUFC2	OMIM:619170
HP:0002011	Morphological central nervous system abnormality	1738	DLD	ORPHA:2394
HP:0002011	Morphological central nervous system abnormality	1738	DLD	OMIM:246900
HP:0002011	Morphological central nervous system abnormality	92579	G6PC3	OMIM:612541
HP:0002011	Morphological central nervous system abnormality	222663	SCUBE3	OMIM:619184
HP:0002011	Morphological central nervous system abnormality	54084	TSPEAR	OMIM:620173
HP:0002011	Morphological central nervous system abnormality	84720	PIGO	OMIM:614749
HP:0002011	Morphological central nervous system abnormality	3675	ITGA3	OMIM:614748
HP:0002011	Morphological central nervous system abnormality	8379	MAD1L1	OMIM:620189
HP:0002011	Morphological central nervous system abnormality	23137	SMC5	OMIM:620185
HP:0002011	Morphological central nervous system abnormality	55343	SLC35C1	OMIM:266265
HP:0002011	Morphological central nervous system abnormality	55343	SLC35C1	ORPHA:99843
HP:0002011	Morphological central nervous system abnormality	81887	LAS1L	OMIM:309585
HP:0002011	Morphological central nervous system abnormality	545	ATR	ORPHA:808
HP:0002011	Morphological central nervous system abnormality	545	ATR	OMIM:210600
HP:0002011	Morphological central nervous system abnormality	79902	NUP85	ORPHA:808
HP:0002011	Morphological central nervous system abnormality	84126	ATRIP	ORPHA:808
HP:0002011	Morphological central nervous system abnormality	51567	TDP2	OMIM:616949
HP:0002011	Morphological central nervous system abnormality	9894	TELO2	OMIM:616954
HP:0002011	Morphological central nervous system abnormality	56052	ALG1	OMIM:608540
HP:0002011	Morphological central nervous system abnormality	10075	HUWE1	OMIM:309590
HP:0002011	Morphological central nervous system abnormality	60529	ALX4	OMIM:613451
HP:0002011	Morphological central nervous system abnormality	9759	HDAC4	ORPHA:1001
HP:0002011	Morphological central nervous system abnormality	1806	DPYD	OMIM:274270
HP:0002011	Morphological central nervous system abnormality	1806	DPYD	ORPHA:1675
HP:0002011	Morphological central nervous system abnormality	3097	HIVEP2	OMIM:616977
HP:0002011	Morphological central nervous system abnormality	9837	GINS1	OMIM:617827
HP:0002011	Morphological central nervous system abnormality	79840	NHEJ1	ORPHA:169079
HP:0002011	Morphological central nervous system abnormality	197131	UBR1	ORPHA:2315
HP:0002011	Morphological central nervous system abnormality	197131	UBR1	OMIM:243800
HP:0002011	Morphological central nervous system abnormality	6792	CDKL5	ORPHA:505652
HP:0002011	Morphological central nervous system abnormality	6792	CDKL5	ORPHA:1934
HP:0002011	Morphological central nervous system abnormality	5723	PSPH	ORPHA:79350
HP:0002011	Morphological central nervous system abnormality	5723	PSPH	OMIM:614023
HP:0002011	Morphological central nervous system abnormality	55180	LINS1	OMIM:614340
HP:0002011	Morphological central nervous system abnormality	80152	CENPT	OMIM:618702
HP:0002011	Morphological central nervous system abnormality	6697	SPR	ORPHA:70594
HP:0002011	Morphological central nervous system abnormality	6697	SPR	OMIM:612716
HP:0002011	Morphological central nervous system abnormality	953	ENTPD1	OMIM:615683
HP:0002011	Morphological central nervous system abnormality	953	ENTPD1	ORPHA:401810
HP:0002011	Morphological central nervous system abnormality	54802	TRIT1	OMIM:617873
HP:0002011	Morphological central nervous system abnormality	55733	HHAT	ORPHA:1422
HP:0002011	Morphological central nervous system abnormality	55733	HHAT	OMIM:600092
HP:0002011	Morphological central nervous system abnormality	84700	MYO18B	OMIM:616549
HP:0002011	Morphological central nervous system abnormality	8086	AAAS	OMIM:231550
HP:0002011	Morphological central nervous system abnormality	8086	AAAS	ORPHA:869
HP:0002011	Morphological central nervous system abnormality	2182	ACSL4	OMIM:300387
HP:0002011	Morphological central nervous system abnormality	51763	INPP5K	OMIM:617404
HP:0002011	Morphological central nervous system abnormality	246329	STAC3	OMIM:255995
HP:0002011	Morphological central nervous system abnormality	3703	STT3A	OMIM:615596
HP:0002011	Morphological central nervous system abnormality	3703	STT3A	OMIM:619714
HP:0002011	Morphological central nervous system abnormality	3703	STT3A	ORPHA:370921
HP:0002011	Morphological central nervous system abnormality	1947	EFNB1	ORPHA:1520
HP:0002011	Morphological central nervous system abnormality	1355	COX15	OMIM:615119
HP:0002011	Morphological central nervous system abnormality	81857	MED25	OMIM:616449
HP:0002011	Morphological central nervous system abnormality	81857	MED25	ORPHA:464738
HP:0002011	Morphological central nervous system abnormality	5361	PLXNA1	OMIM:619955
HP:0002011	Morphological central nervous system abnormality	4047	LSS	ORPHA:2850
HP:0002011	Morphological central nervous system abnormality	4047	LSS	OMIM:618840
HP:0002011	Morphological central nervous system abnormality	197	AHSG	ORPHA:2850
HP:0002011	Morphological central nervous system abnormality	3694	ITGB6	ORPHA:2850
HP:0002011	Morphological central nervous system abnormality	6536	SLC6A9	OMIM:617301
HP:0002011	Morphological central nervous system abnormality	28960	DCPS	OMIM:616459
HP:0002011	Morphological central nervous system abnormality	10559	SLC35A1	OMIM:603585
HP:0002011	Morphological central nervous system abnormality	80153	EDC3	OMIM:616460
HP:0002011	Morphological central nervous system abnormality	91869	RFT1	ORPHA:244310
HP:0002011	Morphological central nervous system abnormality	91869	RFT1	OMIM:612015
HP:0002011	Morphological central nervous system abnormality	816	CAMK2B	OMIM:617799
HP:0002011	Morphological central nervous system abnormality	815	CAMK2A	OMIM:617798
HP:0002011	Morphological central nervous system abnormality	23184	MESD	OMIM:618644
HP:0002011	Morphological central nervous system abnormality	55109	AGGF1	ORPHA:90308
HP:0002011	Morphological central nervous system abnormality	2626	GATA4	ORPHA:251071
HP:0002011	Morphological central nervous system abnormality	1501	CTNND2	ORPHA:281
HP:0002011	Morphological central nervous system abnormality	9037	SEMA5A	ORPHA:281
HP:0002011	Morphological central nervous system abnormality	26057	ANKRD17	OMIM:619504
HP:0002011	Morphological central nervous system abnormality	55623	THUMPD1	OMIM:619989
HP:0002011	Morphological central nervous system abnormality	57167	SALL4	ORPHA:233
HP:0002011	Morphological central nervous system abnormality	9935	MAFB	ORPHA:233
HP:0002011	Morphological central nervous system abnormality	1123	CHN1	ORPHA:233
HP:0002011	Morphological central nervous system abnormality	7862	BRPF1	OMIM:617333
HP:0002011	Morphological central nervous system abnormality	1660	DHX9	OMIM:620988
HP:0002011	Morphological central nervous system abnormality	286	ANK1	ORPHA:251066
HP:0002011	Morphological central nervous system abnormality	5860	QDPR	ORPHA:226
HP:0002011	Morphological central nervous system abnormality	5860	QDPR	OMIM:261630
HP:0002011	Morphological central nervous system abnormality	7385	UQCRC2	OMIM:615160
HP:0002011	Morphological central nervous system abnormality	6621	SNAPC4	OMIM:620515
HP:0002011	Morphological central nervous system abnormality	57104	PNPLA2	OMIM:610717
HP:0002011	Morphological central nervous system abnormality	9922	IQSEC1	OMIM:618687
HP:0002011	Morphological central nervous system abnormality	57479	PRR12	OMIM:619539
HP:0002011	Morphological central nervous system abnormality	10516	FBLN5	ORPHA:90348
HP:0002011	Morphological central nervous system abnormality	10516	FBLN5	OMIM:219100
HP:0002011	Morphological central nervous system abnormality	1173	AP2M1	ORPHA:1942
HP:0002011	Morphological central nervous system abnormality	340533	NEXMIF	ORPHA:1942
HP:0002011	Morphological central nervous system abnormality	29893	PSMC3IP	ORPHA:243
HP:0002011	Morphological central nervous system abnormality	171568	POLR3H	ORPHA:243
HP:0002011	Morphological central nervous system abnormality	2516	NR5A1	ORPHA:243
HP:0002011	Morphological central nervous system abnormality	125150	ZSWIM7	ORPHA:243
HP:0002011	Morphological central nervous system abnormality	9210	BMP15	ORPHA:243
HP:0002011	Morphological central nervous system abnormality	23514	SPIDR	ORPHA:243
HP:0002011	Morphological central nervous system abnormality	2492	FSHR	ORPHA:243
HP:0002011	Morphological central nervous system abnormality	646	BNC1	ORPHA:243
HP:0002011	Morphological central nervous system abnormality	4438	MSH4	ORPHA:243
HP:0002011	Morphological central nervous system abnormality	8621	CDK13	OMIM:617360
HP:0002011	Morphological central nervous system abnormality	5587	PRKD1	OMIM:617364
HP:0002011	Morphological central nervous system abnormality	3736	KCNA1	ORPHA:1934
HP:0002011	Morphological central nervous system abnormality	9091	PIGQ	ORPHA:1934
HP:0002011	Morphological central nervous system abnormality	150094	SIK1	ORPHA:1934
HP:0002011	Morphological central nervous system abnormality	51227	PIGP	ORPHA:1934
HP:0002011	Morphological central nervous system abnormality	51227	PIGP	OMIM:617599
HP:0002011	Morphological central nervous system abnormality	54808	DYM	ORPHA:239
HP:0002011	Morphological central nervous system abnormality	54808	DYM	OMIM:223800
HP:0002011	Morphological central nervous system abnormality	54808	DYM	OMIM:607326
HP:0002011	Morphological central nervous system abnormality	2627	GATA6	OMIM:600001
HP:0002011	Morphological central nervous system abnormality	4695	NDUFA2	OMIM:618235
HP:0002011	Morphological central nervous system abnormality	9179	AP4M1	OMIM:612936
HP:0002011	Morphological central nervous system abnormality	9179	AP4M1	ORPHA:280763
HP:0002011	Morphological central nervous system abnormality	8260	NAA10	OMIM:300855
HP:0002011	Morphological central nervous system abnormality	8260	NAA10	ORPHA:568
HP:0002011	Morphological central nervous system abnormality	8260	NAA10	OMIM:309800
HP:0002011	Morphological central nervous system abnormality	92344	GORAB	OMIM:231070
HP:0002011	Morphological central nervous system abnormality	6898	TAT	ORPHA:28378
HP:0002011	Morphological central nervous system abnormality	80324	PUS1	OMIM:600462
HP:0002011	Morphological central nervous system abnormality	80324	PUS1	ORPHA:2598
HP:0002011	Morphological central nervous system abnormality	10524	KAT5	OMIM:619103
HP:0002011	Morphological central nervous system abnormality	9451	EIF2AK3	OMIM:226980
HP:0002011	Morphological central nervous system abnormality	9451	EIF2AK3	ORPHA:1667
HP:0002011	Morphological central nervous system abnormality	5000	ORC4	OMIM:613800
HP:0002011	Morphological central nervous system abnormality	5000	ORC4	ORPHA:2554
HP:0002011	Morphological central nervous system abnormality	81620	CDT1	OMIM:613804
HP:0002011	Morphological central nervous system abnormality	81620	CDT1	ORPHA:2554
HP:0002011	Morphological central nervous system abnormality	23594	ORC6	OMIM:613803
HP:0002011	Morphological central nervous system abnormality	23594	ORC6	ORPHA:2554
HP:0002011	Morphological central nervous system abnormality	990	CDC6	OMIM:613805
HP:0002011	Morphological central nervous system abnormality	990	CDC6	ORPHA:2554
HP:0002011	Morphological central nervous system abnormality	10847	SRCAP	OMIM:619595
HP:0002011	Morphological central nervous system abnormality	55526	DHTKD1	OMIM:204750
HP:0002011	Morphological central nervous system abnormality	6472	SHMT2	OMIM:619121
HP:0002011	Morphological central nervous system abnormality	90416	CCDC32	OMIM:619123
HP:0002011	Morphological central nervous system abnormality	9895	TECPR2	ORPHA:320385
HP:0002011	Morphological central nervous system abnormality	9895	TECPR2	OMIM:615031
HP:0002011	Morphological central nervous system abnormality	3739	KCNA4	OMIM:618284
HP:0002011	Morphological central nervous system abnormality	55835	CPAP	OMIM:608393
HP:0002011	Morphological central nervous system abnormality	55835	CPAP	OMIM:613676
HP:0002011	Morphological central nervous system abnormality	57680	CHD8	ORPHA:261229
HP:0002011	Morphological central nervous system abnormality	3763	KCNJ6	ORPHA:435628
HP:0002011	Morphological central nervous system abnormality	3763	KCNJ6	OMIM:614098
HP:0002011	Morphological central nervous system abnormality	341640	FREM2	ORPHA:2052
HP:0002011	Morphological central nervous system abnormality	23236	PLCB1	ORPHA:293181
HP:0002011	Morphological central nervous system abnormality	3785	KCNQ2	ORPHA:293181
HP:0002011	Morphological central nervous system abnormality	1636	ACE	OMIM:267430
HP:0002011	Morphological central nervous system abnormality	183	AGT	OMIM:267430
HP:0002011	Morphological central nervous system abnormality	185	AGTR1	OMIM:267430
HP:0002011	Morphological central nervous system abnormality	5972	REN	OMIM:267430
HP:0002011	Morphological central nervous system abnormality	5689	PSMB1	OMIM:620038
HP:0002011	Morphological central nervous system abnormality	23431	AP4E1	OMIM:613744
HP:0002011	Morphological central nervous system abnormality	23431	AP4E1	ORPHA:280763
HP:0002011	Morphological central nervous system abnormality	10472	ZBTB18	ORPHA:36367
HP:0002011	Morphological central nervous system abnormality	10472	ZBTB18	OMIM:612337
HP:0002011	Morphological central nervous system abnormality	63908	NAPB	OMIM:620033
HP:0002011	Morphological central nervous system abnormality	7298	TYMS	OMIM:620040
HP:0002011	Morphological central nervous system abnormality	514	ATP5F1E	ORPHA:254913
HP:0002011	Morphological central nervous system abnormality	513	ATP5F1D	ORPHA:254913
HP:0002011	Morphological central nervous system abnormality	4508	MT-ATP6	ORPHA:254913
HP:0002011	Morphological central nervous system abnormality	84833	ATP5MK	ORPHA:254913
HP:0002011	Morphological central nervous system abnormality	91647	ATPAF2	ORPHA:254913
HP:0002011	Morphological central nervous system abnormality	91647	ATPAF2	OMIM:604273
HP:0002011	Morphological central nervous system abnormality	100131801	PET100	OMIM:619055
HP:0002011	Morphological central nervous system abnormality	7080	NKX2-1	ORPHA:209905
HP:0002011	Morphological central nervous system abnormality	259232	NALCN	ORPHA:562528
HP:0002011	Morphological central nervous system abnormality	259232	NALCN	OMIM:615419
HP:0002011	Morphological central nervous system abnormality	259232	NALCN	ORPHA:371364
HP:0002011	Morphological central nervous system abnormality	4212	MEIS2	OMIM:600987
HP:0002011	Morphological central nervous system abnormality	4212	MEIS2	ORPHA:261190
HP:0002011	Morphological central nervous system abnormality	92667	MGME1	ORPHA:352447
HP:0002011	Morphological central nervous system abnormality	92667	MGME1	OMIM:615084
HP:0002011	Morphological central nervous system abnormality	55027	HEATR3	OMIM:620072
HP:0002011	Morphological central nervous system abnormality	55027	HEATR3	ORPHA:124
HP:0002011	Morphological central nervous system abnormality	5700	PSMC1	OMIM:620071
HP:0002011	Morphological central nervous system abnormality	92154	MTSS2	OMIM:620086
HP:0002011	Morphological central nervous system abnormality	197322	ACSF3	ORPHA:289504
HP:0002011	Morphological central nervous system abnormality	2703	GJA8	OMIM:612474
HP:0002011	Morphological central nervous system abnormality	2702	GJA5	OMIM:612474
HP:0002011	Morphological central nervous system abnormality	10664	CTCF	OMIM:615502
HP:0002011	Morphological central nervous system abnormality	10664	CTCF	ORPHA:363611
HP:0002011	Morphological central nervous system abnormality	6307	MSMO1	OMIM:616834
HP:0002011	Morphological central nervous system abnormality	1828	DSG1	OMIM:615508
HP:0002011	Morphological central nervous system abnormality	3720	JARID2	OMIM:620098
HP:0002011	Morphological central nervous system abnormality	549	AUH	ORPHA:67046
HP:0002011	Morphological central nervous system abnormality	55784	MCTP2	ORPHA:1596
HP:0002011	Morphological central nervous system abnormality	55997	CFC1	OMIM:605376
HP:0002011	Morphological central nervous system abnormality	26224	FBXL3	OMIM:606220
HP:0002011	Morphological central nervous system abnormality	80185	TTI2	OMIM:615541
HP:0002011	Morphological central nervous system abnormality	80185	TTI2	ORPHA:391307
HP:0002011	Morphological central nervous system abnormality	2464	FRA16E	OMIM:136570
HP:0002011	Morphological central nervous system abnormality	23443	SLC35A3	OMIM:615553
HP:0002011	Morphological central nervous system abnormality	6925	TCF4	ORPHA:2896
HP:0002011	Morphological central nervous system abnormality	6925	TCF4	OMIM:610954
HP:0002011	Morphological central nervous system abnormality	54805	CNNM2	OMIM:616418
HP:0002011	Morphological central nervous system abnormality	6591	SNAI2	ORPHA:2884
HP:0002011	Morphological central nervous system abnormality	3815	KIT	ORPHA:2884
HP:0002011	Morphological central nervous system abnormality	10717	AP4B1	ORPHA:280763
HP:0002011	Morphological central nervous system abnormality	10717	AP4B1	OMIM:614066
HP:0002011	Morphological central nervous system abnormality	11154	AP4S1	ORPHA:280763
HP:0002011	Morphological central nervous system abnormality	11154	AP4S1	OMIM:614067
HP:0002011	Morphological central nervous system abnormality	9320	TRIP12	OMIM:617752
HP:0002011	Morphological central nervous system abnormality	1663	DDX11	OMIM:613398
HP:0002011	Morphological central nervous system abnormality	2186	BPTF	OMIM:617755
HP:0002011	Morphological central nervous system abnormality	547	KIF1A	OMIM:614255
HP:0002011	Morphological central nervous system abnormality	6777	STAT5B	OMIM:618985
HP:0002011	Morphological central nervous system abnormality	5927	KDM5A	OMIM:620820
HP:0002011	Morphological central nervous system abnormality	65993	MRPS34	OMIM:617664
HP:0002011	Morphological central nervous system abnormality	80816	ASXL3	OMIM:615485
HP:0002011	Morphological central nervous system abnormality	80816	ASXL3	ORPHA:352577
HP:0002011	Morphological central nervous system abnormality	8942	KYNU	OMIM:617661
HP:0002011	Morphological central nervous system abnormality	3149	HMGB3	OMIM:300915
HP:0002011	Morphological central nervous system abnormality	288	ANK3	OMIM:615493
HP:0002011	Morphological central nervous system abnormality	7994	KAT6A	ORPHA:457193
HP:0002011	Morphological central nervous system abnormality	7994	KAT6A	OMIM:616268
HP:0002011	Morphological central nervous system abnormality	1716	DGUOK	OMIM:251880
HP:0002011	Morphological central nervous system abnormality	8550	MAPKAPK5	OMIM:619869
HP:0002011	Morphological central nervous system abnormality	788	SLC25A20	ORPHA:159
HP:0002011	Morphological central nervous system abnormality	8558	CDK10	OMIM:617694
HP:0002011	Morphological central nervous system abnormality	51692	CPSF3	OMIM:619876
HP:0002011	Morphological central nervous system abnormality	5590	PRKCZ	ORPHA:1606
HP:0002011	Morphological central nervous system abnormality	2563	GABRD	ORPHA:1606
HP:0002011	Morphological central nervous system abnormality	8510	MMP23B	ORPHA:1606
HP:0002011	Morphological central nervous system abnormality	7798	LUZP1	ORPHA:1606
HP:0002011	Morphological central nervous system abnormality	10630	PDPN	ORPHA:1606
HP:0002011	Morphological central nervous system abnormality	10277	UBE4B	ORPHA:1606
HP:0002011	Morphological central nervous system abnormality	8514	KCNAB2	ORPHA:1606
HP:0002011	Morphological central nervous system abnormality	63976	PRDM16	ORPHA:1606
HP:0002011	Morphological central nervous system abnormality	54897	CASZ1	ORPHA:1606
HP:0002011	Morphological central nervous system abnormality	83479	DDX59	ORPHA:2919
HP:0002011	Morphological central nervous system abnormality	83479	DDX59	OMIM:174300
HP:0002011	Morphological central nervous system abnormality	56098	PCDHGC4	OMIM:619880
HP:0002011	Morphological central nervous system abnormality	4285	MIPEP	OMIM:617228
HP:0002011	Morphological central nervous system abnormality	641	BLM	OMIM:210900
HP:0002011	Morphological central nervous system abnormality	8565	YARS1	OMIM:619418
HP:0002011	Morphological central nervous system abnormality	374969	SVBP	OMIM:618569
HP:0002011	Morphological central nervous system abnormality	84295	PHF6	ORPHA:127
HP:0002011	Morphological central nervous system abnormality	84295	PHF6	OMIM:301900
HP:0002011	Morphological central nervous system abnormality	6138	RPL15	ORPHA:124
HP:0002011	Morphological central nervous system abnormality	6165	RPL35A	ORPHA:124
HP:0002011	Morphological central nervous system abnormality	6132	RPL8	ORPHA:124
HP:0002011	Morphological central nervous system abnormality	6223	RPS19	ORPHA:124
HP:0002011	Morphological central nervous system abnormality	6223	RPS19	OMIM:105650
HP:0002011	Morphological central nervous system abnormality	6232	RPS27	ORPHA:124
HP:0002011	Morphological central nervous system abnormality	6160	RPL31	ORPHA:124
HP:0002011	Morphological central nervous system abnormality	6201	RPS7	ORPHA:124
HP:0002011	Morphological central nervous system abnormality	6155	RPL27	ORPHA:124
HP:0002011	Morphological central nervous system abnormality	6234	RPS28	ORPHA:124
HP:0002011	Morphological central nervous system abnormality	6135	RPL11	ORPHA:124
HP:0002011	Morphological central nervous system abnormality	6229	RPS24	ORPHA:124
HP:0002011	Morphological central nervous system abnormality	6125	RPL5	ORPHA:124
HP:0002011	Morphological central nervous system abnormality	6204	RPS10	ORPHA:124
HP:0002011	Morphological central nervous system abnormality	2623	GATA1	ORPHA:124
HP:0002011	Morphological central nervous system abnormality	6133	RPL9	ORPHA:124
HP:0002011	Morphological central nervous system abnormality	6231	RPS26	ORPHA:124
HP:0002011	Morphological central nervous system abnormality	11224	RPL35	ORPHA:124
HP:0002011	Morphological central nervous system abnormality	6218	RPS17	ORPHA:124
HP:0002011	Morphological central nervous system abnormality	6154	RPL26	ORPHA:124
HP:0002011	Morphological central nervous system abnormality	6210	RPS15A	ORPHA:124
HP:0002011	Morphological central nervous system abnormality	90121	TSR2	ORPHA:124
HP:0002011	Morphological central nervous system abnormality	6141	RPL18	ORPHA:124
HP:0002011	Morphological central nervous system abnormality	6235	RPS29	ORPHA:124
HP:0002011	Morphological central nervous system abnormality	165918	RNF168	OMIM:611943
HP:0002011	Morphological central nervous system abnormality	165918	RNF168	ORPHA:420741
HP:0002011	Morphological central nervous system abnormality	51574	LARP7	OMIM:615071
HP:0002011	Morphological central nervous system abnormality	286053	NSMCE2	OMIM:617253
HP:0002011	Morphological central nervous system abnormality	84894	LINGO1	OMIM:618103
HP:0002011	Morphological central nervous system abnormality	123606	NIPA1	ORPHA:261183
HP:0002011	Morphological central nervous system abnormality	7283	TUBG1	ORPHA:261183
HP:0002011	Morphological central nervous system abnormality	7283	TUBG1	OMIM:615412
HP:0002011	Morphological central nervous system abnormality	81614	NIPA2	ORPHA:261183
HP:0002011	Morphological central nervous system abnormality	8473	OGT	OMIM:300997
HP:0002011	Morphological central nervous system abnormality	53371	NUP54	OMIM:620427
HP:0002011	Morphological central nervous system abnormality	6418	SET	OMIM:618106
HP:0002011	Morphological central nervous system abnormality	1120	CHKB	OMIM:602541
HP:0002011	Morphological central nervous system abnormality	3778	KCNMA1	OMIM:618596
HP:0002011	Morphological central nervous system abnormality	5053	PAH	OMIM:261600
HP:0002011	Morphological central nervous system abnormality	5053	PAH	ORPHA:79254
HP:0002011	Morphological central nervous system abnormality	5053	PAH	ORPHA:2209
HP:0002011	Morphological central nervous system abnormality	114803	MYSM1	OMIM:618116
HP:0002011	Morphological central nervous system abnormality	4041	LRP5	OMIM:259770
HP:0002011	Morphological central nervous system abnormality	4041	LRP5	ORPHA:891
HP:0002011	Morphological central nervous system abnormality	51132	RLIM	OMIM:300978
HP:0002011	Morphological central nervous system abnormality	4998	ORC1	OMIM:224690
HP:0002011	Morphological central nervous system abnormality	4998	ORC1	ORPHA:2554
HP:0002011	Morphological central nervous system abnormality	27341	RRP7A	OMIM:619453
HP:0002011	Morphological central nervous system abnormality	3376	IARS1	ORPHA:541423
HP:0002011	Morphological central nervous system abnormality	9675	TTI1	OMIM:620445
HP:0002011	Morphological central nervous system abnormality	54880	BCOR	ORPHA:568
HP:0002011	Morphological central nervous system abnormality	54880	BCOR	OMIM:300166
HP:0002011	Morphological central nervous system abnormality	54880	BCOR	OMIM:309800
HP:0002011	Morphological central nervous system abnormality	538	ATP7A	ORPHA:565
HP:0002011	Morphological central nervous system abnormality	538	ATP7A	OMIM:309400
HP:0002011	Morphological central nervous system abnormality	92949	ADAMTSL1	ORPHA:521445
HP:0002011	Morphological central nervous system abnormality	6874	TAF4	OMIM:620450
HP:0002011	Morphological central nervous system abnormality	10526	IPO8	OMIM:619472
HP:0002011	Morphological central nervous system abnormality	55651	NHP2	OMIM:224230
HP:0002011	Morphological central nervous system abnormality	7227	TRPS1	ORPHA:502
HP:0002011	Morphological central nervous system abnormality	374879	ZNF699	OMIM:619488
HP:0002011	Morphological central nervous system abnormality	60676	PAPPA2	OMIM:619489
HP:0002011	Morphological central nervous system abnormality	407975	MIR17HG	ORPHA:391646
HP:0002011	Morphological central nervous system abnormality	55599	RNPC3	OMIM:618160
HP:0002011	Morphological central nervous system abnormality	63899	NSUN3	OMIM:619012
HP:0002011	Morphological central nervous system abnormality	2193	FARSA	OMIM:619013
HP:0002011	Morphological central nervous system abnormality	5557	PRIM1	OMIM:620005
HP:0002011	Morphological central nervous system abnormality	54936	ADPRS	OMIM:618170
HP:0002011	Morphological central nervous system abnormality	64432	MRPS25	OMIM:619025
HP:0002011	Morphological central nervous system abnormality	84842	HPDL	OMIM:619026
HP:0002011	Morphological central nervous system abnormality	1183	CLCN4	OMIM:300114
HP:0002011	Morphological central nervous system abnormality	1183	CLCN4	ORPHA:485350
HP:0002011	Morphological central nervous system abnormality	123263	MTFMT	OMIM:614947
HP:0002011	Morphological central nervous system abnormality	10225	CD96	OMIM:211750
HP:0002011	Morphological central nervous system abnormality	10225	CD96	ORPHA:1308
HP:0002011	Morphological central nervous system abnormality	23325	WASHC4	OMIM:615817
HP:0002011	Morphological central nervous system abnormality	7156	TOP3A	OMIM:618097
HP:0002011	Morphological central nervous system abnormality	1009	CDH11	ORPHA:1299
HP:0002011	Morphological central nervous system abnormality	10056	FARSB	OMIM:613658
HP:0002011	Morphological central nervous system abnormality	54499	TMCO1	OMIM:213980
HP:0002011	Morphological central nervous system abnormality	5422	POLA1	ORPHA:163976
HP:0002011	Morphological central nervous system abnormality	5422	POLA1	OMIM:301030
HP:0002011	Morphological central nervous system abnormality	55275	VPS53	OMIM:615851
HP:0002011	Morphological central nervous system abnormality	51067	YARS2	ORPHA:2598
HP:0002011	Morphological central nervous system abnormality	2245	FGD1	OMIM:305400
HP:0002011	Morphological central nervous system abnormality	5648	MASP1	OMIM:257920
HP:0002011	Morphological central nervous system abnormality	26115	TANC2	OMIM:618906
HP:0002011	Morphological central nervous system abnormality	54101	RIPK4	ORPHA:1234
HP:0002011	Morphological central nervous system abnormality	50	ACO2	OMIM:614559
HP:0002011	Morphological central nervous system abnormality	10982	MAPRE2	OMIM:616734
HP:0002011	Morphological central nervous system abnormality	10982	MAPRE2	ORPHA:2505
HP:0002011	Morphological central nervous system abnormality	3176	HNMT	OMIM:616739
HP:0002011	Morphological central nervous system abnormality	3759	KCNJ2	OMIM:170390
HP:0002011	Morphological central nervous system abnormality	8318	CDC45	ORPHA:2554
HP:0002011	Morphological central nervous system abnormality	84172	POLR1B	OMIM:618939
HP:0002011	Morphological central nervous system abnormality	1861	TOR1A	OMIM:618947
HP:0002011	Morphological central nervous system abnormality	51520	LARS1	OMIM:615438
HP:0002011	Morphological central nervous system abnormality	55617	TASP1	OMIM:618950
HP:0002011	Morphological central nervous system abnormality	60528	ELAC2	OMIM:615440
HP:0002011	Morphological central nervous system abnormality	28957	MRPS28	OMIM:618958
HP:0002011	Morphological central nervous system abnormality	7991	TUSC3	OMIM:611093
HP:0002011	Morphological central nervous system abnormality	1804	DPP6	ORPHA:2514
HP:0002011	Morphological central nervous system abnormality	1804	DPP6	OMIM:616311
HP:0002011	Morphological central nervous system abnormality	8192	CLPP	OMIM:614129
HP:0002011	Morphological central nervous system abnormality	1146	CHRNG	ORPHA:2990
HP:0002011	Morphological central nervous system abnormality	10749	KIF1C	ORPHA:397946
HP:0002011	Morphological central nervous system abnormality	10973	ASCC3	OMIM:620700
HP:0002011	Morphological central nervous system abnormality	3020	H3-3A	OMIM:619720
HP:0002011	Morphological central nervous system abnormality	3021	H3-3B	OMIM:619721
HP:0002011	Morphological central nervous system abnormality	4056	LTC4S	OMIM:614037
HP:0002011	Morphological central nervous system abnormality	72	ACTG2	ORPHA:2604
HP:0002011	Morphological central nervous system abnormality	137492	VPS37A	ORPHA:319199
HP:0002011	Morphological central nervous system abnormality	2590	GALNT2	OMIM:618885
HP:0002011	Morphological central nervous system abnormality	9698	PUM1	OMIM:620719
HP:0002011	Morphological central nervous system abnormality	51319	RSRC1	OMIM:618402
HP:0002011	Morphological central nervous system abnormality	23761	PISD	OMIM:618889
HP:0002011	Morphological central nervous system abnormality	7020	TFAP2A	OMIM:113620
HP:0002011	Morphological central nervous system abnormality	5442	POLRMT	OMIM:619743
HP:0002011	Morphological central nervous system abnormality	4297	KMT2A	ORPHA:319182
HP:0002011	Morphological central nervous system abnormality	4297	KMT2A	OMIM:605130
HP:0002011	Morphological central nervous system abnormality	339983	NAT8L	OMIM:614063
HP:0002011	Morphological central nervous system abnormality	8879	SGPL1	OMIM:617575
HP:0002011	Morphological central nervous system abnormality	8364	H4C3	OMIM:619758
HP:0002011	Morphological central nervous system abnormality	145258	GSC	OMIM:602471
HP:0002011	Morphological central nervous system abnormality	53335	BCL11A	OMIM:617101
HP:0002011	Morphological central nervous system abnormality	54487	DGCR8	OMIM:192430
HP:0002011	Morphological central nervous system abnormality	8214	DGCR6	OMIM:192430
HP:0002011	Morphological central nervous system abnormality	8220	ESS2	OMIM:192430
HP:0002011	Morphological central nervous system abnormality	9993	DGCR2	OMIM:192430
HP:0002011	Morphological central nervous system abnormality	10463	SLC30A9	OMIM:617595
HP:0002011	Morphological central nervous system abnormality	221078	NSUN6	OMIM:620779
HP:0002011	Morphological central nervous system abnormality	27145	FILIP1	OMIM:620775
HP:0002011	Morphological central nervous system abnormality	78987	CRELD1	OMIM:620771
HP:0002011	Morphological central nervous system abnormality	9900	SV2A	OMIM:620772
HP:0002011	Morphological central nervous system abnormality	51728	POLR3K	OMIM:619310
HP:0002011	Morphological central nervous system abnormality	6650	CAPN15	OMIM:619318
HP:0002011	Morphological central nervous system abnormality	10073	SNUPN	OMIM:620793
HP:0002011	Morphological central nervous system abnormality	2530	FUT8	OMIM:618005
HP:0002011	Morphological central nervous system abnormality	4141	MARS1	OMIM:620323
HP:0002011	Morphological central nervous system abnormality	372	ARCN1	OMIM:617164
HP:0002011	Morphological central nervous system abnormality	54681	P4HTM	OMIM:618493
HP:0002011	Morphological central nervous system abnormality	5283	PIGH	OMIM:618010
HP:0002011	Morphological central nervous system abnormality	9343	EFTUD2	OMIM:610536
HP:0002011	Morphological central nervous system abnormality	668	FOXL2	OMIM:110100
HP:0002011	Morphological central nervous system abnormality	37	ACADVL	OMIM:201475
HP:0002011	Morphological central nervous system abnormality	5281	PIGF	OMIM:619356
HP:0002011	Morphological central nervous system abnormality	29926	GMPPA	ORPHA:869
HP:0002011	Morphological central nervous system abnormality	10681	GNB5	OMIM:617182
HP:0002011	Morphological central nervous system abnormality	23554	TSPAN12	ORPHA:891
HP:0002011	Morphological central nervous system abnormality	79797	ZNF408	ORPHA:891
HP:0002011	Morphological central nervous system abnormality	8322	FZD4	ORPHA:891
HP:0002011	Morphological central nervous system abnormality	10295	BCKDK	OMIM:614923
HP:0002011	Morphological central nervous system abnormality	11011	TLK2	OMIM:618050
HP:0002011	Morphological central nervous system abnormality	5965	RECQL	OMIM:620370
HP:0002011	Morphological central nervous system abnormality	267	AMFR	OMIM:620379
HP:0002011	Morphological central nervous system abnormality	4702	NDUFA8	OMIM:619272
HP:0002011	Morphological central nervous system abnormality	81555	YIPF5	OMIM:619278
HP:0002011	Morphological central nervous system abnormality	55532	SLC30A10	ORPHA:309854
HP:0002011	Morphological central nervous system abnormality	64324	NSD1	ORPHA:228415
HP:0002011	Morphological central nervous system abnormality	36	ACADSB	OMIM:610006
HP:0002011	Morphological central nervous system abnormality	8546	AP3B1	OMIM:608233
HP:0002011	Morphological central nervous system abnormality	51199	NIN	OMIM:614851
HP:0002011	Morphological central nervous system abnormality	51199	NIN	ORPHA:319675
HP:0002011	Morphological central nervous system abnormality	4338	MOCS2	OMIM:252160
HP:0002011	Morphological central nervous system abnormality	197257	LDHD	OMIM:245450
HP:0002011	Morphological central nervous system abnormality	375748	ERCC6L2	OMIM:615715
HP:0002011	Morphological central nervous system abnormality	93210	PGAP3	OMIM:615716
HP:0002011	Morphological central nervous system abnormality	162417	NAGS	ORPHA:927
HP:0002011	Morphological central nervous system abnormality	867	CBL	OMIM:613563
HP:0002011	Morphological central nervous system abnormality	7507	XPA	ORPHA:910
HP:0002011	Morphological central nervous system abnormality	7507	XPA	OMIM:278700
HP:0002011	Morphological central nervous system abnormality	7508	XPC	ORPHA:910
HP:0002011	Morphological central nervous system abnormality	1643	DDB2	ORPHA:910
HP:0002011	Morphological central nervous system abnormality	4173	MCM4	OMIM:609981
HP:0002011	Morphological central nervous system abnormality	55187	VPS13D	OMIM:607317
HP:0002011	Morphological central nervous system abnormality	79631	EFL1	OMIM:617941
HP:0002011	Morphological central nervous system abnormality	5429	POLH	OMIM:278750
HP:0002011	Morphological central nervous system abnormality	20	ABCA2	OMIM:618808
HP:0002011	Morphological central nervous system abnormality	175	AGA	OMIM:208400
HP:0002011	Morphological central nervous system abnormality	9419	CRIPT	OMIM:615789
HP:0002011	Morphological central nervous system abnormality	2584	GALK1	ORPHA:79237
HP:0002011	Morphological central nervous system abnormality	4337	MOCS1	OMIM:252150
HP:0002011	Morphological central nervous system abnormality	56270	WDR45B	OMIM:617977
HP:0002011	Morphological central nervous system abnormality	54870	QRICH1	OMIM:617982
HP:0002011	Morphological central nervous system abnormality	23397	NCAPH	OMIM:617985
HP:0002011	Morphological central nervous system abnormality	54676	GTPBP2	OMIM:617988
HP:0002011	Morphological central nervous system abnormality	158326	FREM1	OMIM:614485
HP:0002011	Morphological central nervous system abnormality	9203	ZMYM3	OMIM:301111
HP:0002011	Morphological central nervous system abnormality	23133	PHF8	OMIM:300263
HP:0002011	Morphological central nervous system abnormality	23001	WDFY3	OMIM:617520
HP:0002011	Morphological central nervous system abnormality	35	ACADS	ORPHA:26792
HP:0002011	Morphological central nervous system abnormality	55753	OGDHL	OMIM:619701
HP:0002011	Morphological central nervous system abnormality	51660	MPC1	OMIM:614741
HP:0002011	Morphological central nervous system abnormality	54862	CC2D1A	OMIM:608443
HP:0002011	Morphological central nervous system abnormality	203190	LGI3	OMIM:620007
HP:0002011	Morphological central nervous system abnormality	22827	PUF60	ORPHA:508498
HP:0002011	Morphological central nervous system abnormality	22827	PUF60	ORPHA:508488
HP:0002011	Morphological central nervous system abnormality	22827	PUF60	OMIM:615583
HP:0002011	Morphological central nervous system abnormality	3145	HMBS	OMIM:620704
HP:0002011	Morphological central nervous system abnormality	220	ALDH1A3	OMIM:615113
HP:0002011	Morphological central nervous system abnormality	8573	CASK	OMIM:300749
HP:0002011	Morphological central nervous system abnormality	8573	CASK	ORPHA:163937
HP:0002011	Morphological central nervous system abnormality	775	CACNA1C	OMIM:620029
HP:0002011	Morphological central nervous system abnormality	84282	RNF135	ORPHA:137634
HP:0002011	Morphological central nervous system abnormality	55605	KIF21A	ORPHA:45358
HP:0002011	Morphological central nervous system abnormality	401	PHOX2A	ORPHA:45358
HP:0002011	Morphological central nervous system abnormality	10381	TUBB3	ORPHA:45358
HP:0002011	Morphological central nervous system abnormality	10381	TUBB3	ORPHA:300570
HP:0002011	Morphological central nervous system abnormality	84570	COL25A1	ORPHA:45358
HP:0002011	Morphological central nervous system abnormality	6334	SCN8A	OMIM:614306
HP:0002011	Morphological central nervous system abnormality	1788	DNMT3A	OMIM:615879
HP:0002011	Morphological central nervous system abnormality	51807	TUBA8	ORPHA:250972
HP:0002011	Morphological central nervous system abnormality	8854	ALDH1A2	OMIM:620025
HP:0002011	Morphological central nervous system abnormality	11267	SNF8	OMIM:620783
HP:0002011	Morphological central nervous system abnormality	256297	PTF1A	OMIM:609069
HP:0002011	Morphological central nervous system abnormality	256297	PTF1A	ORPHA:65288
HP:0002011	Morphological central nervous system abnormality	55593	OTUD5	OMIM:301056
HP:0002011	Morphological central nervous system abnormality	8443	GNPAT	OMIM:222765
HP:0002011	Morphological central nervous system abnormality	473	RERE	OMIM:616975
HP:0002011	Morphological central nervous system abnormality	10730	YME1L1	OMIM:617302
HP:0002011	Morphological central nervous system abnormality	25914	RTTN	OMIM:614833
HP:0002011	Morphological central nervous system abnormality	25914	RTTN	ORPHA:468631
HP:0002011	Morphological central nervous system abnormality	5080	PAX6	OMIM:165550
HP:0002011	Morphological central nervous system abnormality	5080	PAX6	ORPHA:250923
HP:0002011	Morphological central nervous system abnormality	5080	PAX6	OMIM:106210
HP:0002011	Morphological central nervous system abnormality	23499	MACF1	ORPHA:572013
HP:0002011	Morphological central nervous system abnormality	387119	CEP85L	ORPHA:572013
HP:0002011	Morphological central nervous system abnormality	5015	OTX2	OMIM:610125
HP:0002011	Morphological central nervous system abnormality	5015	OTX2	ORPHA:95494
HP:0002011	Morphological central nervous system abnormality	5015	OTX2	ORPHA:3157
HP:0002011	Morphological central nervous system abnormality	10157	AASS	OMIM:238700
HP:0002011	Morphological central nervous system abnormality	64121	RRAGC	OMIM:620609
HP:0002011	Morphological central nervous system abnormality	25930	PTPN23	OMIM:618890
HP:0002011	Morphological central nervous system abnormality	132158	GLYCTK	OMIM:220120
HP:0002011	Morphological central nervous system abnormality	4990	SIX6	OMIM:206900
HP:0002011	Morphological central nervous system abnormality	1974	EIF4A2	OMIM:620455
HP:0002011	Morphological central nervous system abnormality	4747	NEFL	ORPHA:101085
HP:0002011	Morphological central nervous system abnormality	64864	RFX7	OMIM:620330
HP:0002011	Morphological central nervous system abnormality	8820	HESX1	OMIM:182230
HP:0002011	Morphological central nervous system abnormality	8820	HESX1	ORPHA:226307
HP:0002011	Morphological central nervous system abnormality	8820	HESX1	ORPHA:95494
HP:0002011	Morphological central nervous system abnormality	8820	HESX1	ORPHA:3157
HP:0002011	Morphological central nervous system abnormality	50801	KCNK4	OMIM:618381
HP:0002011	Morphological central nervous system abnormality	7025	NR2F1	ORPHA:401777
HP:0002011	Morphological central nervous system abnormality	23126	POGZ	OMIM:616364
HP:0002011	Morphological central nervous system abnormality	23259	DDHD2	OMIM:615033
HP:0002011	Morphological central nervous system abnormality	2296	FOXC1	ORPHA:250923
HP:0002011	Morphological central nervous system abnormality	54765	TRIM44	ORPHA:250923
HP:0002011	Morphological central nervous system abnormality	7737	RNF113A	OMIM:300953
HP:0002011	Morphological central nervous system abnormality	5626	PROP1	ORPHA:226307
HP:0002011	Morphological central nervous system abnormality	5626	PROP1	ORPHA:95494
HP:0002011	Morphological central nervous system abnormality	89884	LHX4	ORPHA:226307
HP:0002011	Morphological central nervous system abnormality	89884	LHX4	ORPHA:95494
HP:0002011	Morphological central nervous system abnormality	8022	LHX3	ORPHA:226307
HP:0002011	Morphological central nervous system abnormality	5449	POU1F1	ORPHA:226307
HP:0002011	Morphological central nervous system abnormality	5449	POU1F1	ORPHA:95494
HP:0002011	Morphological central nervous system abnormality	2550	GABBR1	OMIM:620502
HP:0002011	Morphological central nervous system abnormality	8405	SPOP	OMIM:618828
HP:0002011	Morphological central nervous system abnormality	5293	PIK3CD	ORPHA:221139
HP:0002011	Morphological central nervous system abnormality	90417	KNSTRN	ORPHA:221139
HP:0002011	Morphological central nervous system abnormality	415	ARSL	ORPHA:79345
HP:0002011	Morphological central nervous system abnormality	55210	ATAD3A	ORPHA:496790
HP:0002011	Morphological central nervous system abnormality	57459	GATAD2B	ORPHA:363686
HP:0002011	Morphological central nervous system abnormality	3170	FOXA2	ORPHA:95494
HP:0002011	Morphological central nervous system abnormality	2222	FDFT1	OMIM:618156
HP:0002011	Morphological central nervous system abnormality	3913	LAMB2	OMIM:614199
HP:0002011	Morphological central nervous system abnormality	29123	ANKRD11	ORPHA:261250
HP:0002011	Morphological central nervous system abnormality	2893	GRIA4	OMIM:617864
HP:0002011	Morphological central nervous system abnormality	4208	MEF2C	ORPHA:228384
HP:0002011	Morphological central nervous system abnormality	4081	MAB21L1	ORPHA:495875
HP:0002011	Morphological central nervous system abnormality	440	ASNS	OMIM:615574
HP:0002011	Morphological central nervous system abnormality	7543	ZFX	OMIM:301118
HP:0002011	Morphological central nervous system abnormality	7545	ZIC1	OMIM:618736
HP:0002011	Morphological central nervous system abnormality	128674	PROKR2	ORPHA:3157
HP:0002011	Morphological central nervous system abnormality	6658	SOX3	ORPHA:3157
HP:0002011	Morphological central nervous system abnormality	9915	ARNT2	ORPHA:3157
HP:0002011	Morphological central nervous system abnormality	6909	TBX2	OMIM:618223
HP:0002011	Morphological central nervous system abnormality	5122	PCSK1	ORPHA:71528
HP:0002011	Morphological central nervous system abnormality	5443	POMC	ORPHA:71526
HP:0002011	Morphological central nervous system abnormality	5443	POMC	OMIM:609734
HP:0002011	Morphological central nervous system abnormality	9581	PREPL	OMIM:616224
HP:0002011	Morphological central nervous system abnormality	5308	PITX2	OMIM:180500
HP:0002011	Morphological central nervous system abnormality	7840	ALMS1	OMIM:203800
HP:0002011	Morphological central nervous system abnormality	7840	ALMS1	ORPHA:64
HP:0002011	Morphological central nervous system abnormality	9056	SLC7A7	ORPHA:470
HP:0002011	Morphological central nervous system abnormality	2887	GRB10	ORPHA:96182
HP:0002011	Morphological central nervous system abnormality	60401	EDA2R	ORPHA:181
HP:0002011	Morphological central nervous system abnormality	1896	EDA	ORPHA:181
HP:0002011	Morphological central nervous system abnormality	8626	TP63	ORPHA:1896
HP:0002011	Morphological central nervous system abnormality	81848	SPRY4	ORPHA:478
HP:0002011	Morphological central nervous system abnormality	23767	FLRT3	ORPHA:478
HP:0002011	Morphological central nervous system abnormality	79625	NDNF	ORPHA:478
HP:0002011	Morphological central nervous system abnormality	389549	FEZF1	ORPHA:478
HP:0002011	Morphological central nervous system abnormality	54756	IL17RD	ORPHA:478
HP:0002011	Morphological central nervous system abnormality	285025	CCDC141	ORPHA:478
HP:0002011	Morphological central nervous system abnormality	1848	DUSP6	ORPHA:478
HP:0002011	Morphological central nervous system abnormality	6870	TACR3	ORPHA:478
HP:0002011	Morphological central nervous system abnormality	8822	FGF17	ORPHA:478
HP:0002011	Morphological central nervous system abnormality	3973	LHCGR	OMIM:238320
HP:0002011	Morphological central nervous system abnormality	2099	ESR1	ORPHA:785
HP:0002011	Morphological central nervous system abnormality	6736	SRY	ORPHA:1772
HP:0002011	Morphological central nervous system abnormality	6736	SRY	ORPHA:251510
HP:0002011	Morphological central nervous system abnormality	6845	VAMP7	ORPHA:251510
HP:0002011	Morphological central nervous system abnormality	4214	MAP3K1	ORPHA:251510
HP:0002011	Morphological central nervous system abnormality	23414	ZFPM2	ORPHA:251510
HP:0002011	Morphological central nervous system abnormality	190	NR0B1	ORPHA:251510
HP:0002011	Morphological central nervous system abnormality	56154	TEX15	ORPHA:399805
HP:0002011	Morphological central nervous system abnormality	6875	TAF4B	ORPHA:399805
HP:0002011	Morphological central nervous system abnormality	254528	MEIOB	ORPHA:399805
HP:0002011	Morphological central nervous system abnormality	10734	STAG3	ORPHA:399805
HP:0002011	Morphological central nervous system abnormality	145645	TERB2	ORPHA:399805
HP:0002011	Morphological central nervous system abnormality	54967	CT55	ORPHA:399805
HP:0002011	Morphological central nervous system abnormality	4439	MSH5	ORPHA:399805
HP:0002011	Morphological central nervous system abnormality	283847	TERB1	ORPHA:399805
HP:0002011	Morphological central nervous system abnormality	402381	SOHLH1	ORPHA:399805
HP:0002011	Morphological central nervous system abnormality	56159	TEX11	ORPHA:399805
HP:0002011	Morphological central nervous system abnormality	144132	DNHD1	ORPHA:399805
HP:0002011	Morphological central nervous system abnormality	1080	CFTR	ORPHA:399805
HP:0002011	Morphological central nervous system abnormality	50511	SYCP3	ORPHA:399805
HP:0002011	Morphological central nervous system abnormality	285498	RNF212	ORPHA:399805
HP:0002011	Morphological central nervous system abnormality	54456	MOV10L1	ORPHA:399805
HP:0002011	Morphological central nervous system abnormality	56155	TEX14	ORPHA:399805
HP:0002011	Morphological central nervous system abnormality	91057	CCDC34	ORPHA:399805
HP:0002011	Morphological central nervous system abnormality	375307	CATIP	ORPHA:399805
HP:0002011	Morphological central nervous system abnormality	196385	DNAH10	ORPHA:399805
HP:0002011	Morphological central nervous system abnormality	140801	RPL10L	ORPHA:399805
HP:0002011	Morphological central nervous system abnormality	317719	KLHL10	ORPHA:399805
HP:0002011	Morphological central nervous system abnormality	200162	SPAG17	ORPHA:399805
HP:0002011	Morphological central nervous system abnormality	84225	ZMYND15	ORPHA:399805
HP:0002011	Morphological central nervous system abnormality	122402	TDRD9	ORPHA:399805
HP:0002011	Morphological central nervous system abnormality	154197	PNLDC1	ORPHA:399805
HP:0002011	Morphological central nervous system abnormality	93426	SYCE1	ORPHA:399805
HP:0002011	Morphological central nervous system abnormality	340719	NANOS1	ORPHA:399805
HP:0002011	Morphological central nervous system abnormality	286151	FBXO43	ORPHA:399805
HP:0002011	Morphological central nervous system abnormality	158401	SHOC1	ORPHA:399805
HP:0002011	Morphological central nervous system abnormality	5161	PDHA2	ORPHA:399805
HP:0002011	Morphological central nervous system abnormality	1586	CYP17A1	ORPHA:90793
HP:0002011	Morphological central nervous system abnormality	50846	DHH	ORPHA:168563
HP:0002011	Morphological central nervous system abnormality	3248	HPGD	ORPHA:2796
HP:0002011	Morphological central nervous system abnormality	6578	SLCO2A1	ORPHA:2796
HP:0002011	Morphological central nervous system abnormality	3767	KCNJ11	ORPHA:79644
HP:0002011	Morphological central nervous system abnormality	5618	PRLR	OMIM:615555
HP:0002011	Morphological central nervous system abnormality	7201	TRHR	ORPHA:99832
HP:0002011	Morphological central nervous system abnormality	7252	TSHB	ORPHA:90674
HP:0002011	Morphological central nervous system abnormality	23646	PLD3	OMIM:617770
HP:0002011	Morphological central nervous system abnormality	10528	NOP56	OMIM:614153
HP:0002011	Morphological central nervous system abnormality	10026	PIGK	OMIM:618879
HP:0002011	Morphological central nervous system abnormality	146057	TTBK2	OMIM:604432
HP:0002011	Morphological central nervous system abnormality	343641	TGM6	ORPHA:276193
HP:0002011	Morphological central nervous system abnormality	343641	TGM6	OMIM:613908
HP:0002011	Morphological central nervous system abnormality	54840	APTX	OMIM:208920
HP:0002011	Morphological central nervous system abnormality	3766	KCNJ10	ORPHA:199343
HP:0002011	Morphological central nervous system abnormality	3766	KCNJ10	OMIM:612780
HP:0002011	Morphological central nervous system abnormality	146227	BEAN1	ORPHA:217012
HP:0002011	Morphological central nervous system abnormality	146227	BEAN1	OMIM:117210
HP:0002011	Morphological central nervous system abnormality	6548	SLC9A1	OMIM:616291
HP:0002011	Morphological central nervous system abnormality	25929	GEMIN5	OMIM:619333
HP:0002011	Morphological central nervous system abnormality	3746	KCNC1	OMIM:616187
HP:0002011	Morphological central nervous system abnormality	51079	NDUFA13	OMIM:618249
HP:0002011	Morphological central nervous system abnormality	463	ZFHX3	OMIM:600223
HP:0002011	Morphological central nervous system abnormality	1938	EEF2	ORPHA:101112
HP:0002011	Morphological central nervous system abnormality	1938	EEF2	OMIM:609306
HP:0002011	Morphological central nervous system abnormality	2799	GNS	OMIM:252940
HP:0002011	Morphological central nervous system abnormality	383	ARG1	OMIM:207800
HP:0002011	Morphological central nervous system abnormality	84274	COQ5	OMIM:619028
HP:0002011	Morphological central nervous system abnormality	64858	DCLRE1B	OMIM:620133
HP:0002011	Morphological central nervous system abnormality	55129	ANO10	OMIM:613728
HP:0002011	Morphological central nervous system abnormality	55129	ANO10	ORPHA:284289
HP:0002011	Morphological central nervous system abnormality	4884	NPTX1	OMIM:620158
HP:0002011	Morphological central nervous system abnormality	823	CAPN1	OMIM:616907
HP:0002011	Morphological central nervous system abnormality	7274	TTPA	ORPHA:96
HP:0002011	Morphological central nervous system abnormality	7274	TTPA	OMIM:277460
HP:0002011	Morphological central nervous system abnormality	26090	ABHD12	OMIM:612674
HP:0002011	Morphological central nervous system abnormality	1600	DAB1	OMIM:615945
HP:0002011	Morphological central nervous system abnormality	9711	RUBCN	OMIM:615705
HP:0002011	Morphological central nervous system abnormality	2259	FGF14	OMIM:620174
HP:0002011	Morphological central nervous system abnormality	2259	FGF14	ORPHA:98764
HP:0002011	Morphological central nervous system abnormality	2259	FGF14	OMIM:193003
HP:0002011	Morphological central nervous system abnormality	3475	IFRD1	ORPHA:98771
HP:0002011	Morphological central nervous system abnormality	3752	KCND3	ORPHA:98772
HP:0002011	Morphological central nervous system abnormality	3752	KCND3	OMIM:607346
HP:0002011	Morphological central nervous system abnormality	255928	SYT14	ORPHA:284271
HP:0002011	Morphological central nervous system abnormality	255928	SYT14	OMIM:614229
HP:0002011	Morphological central nervous system abnormality	79628	SH3TC2	ORPHA:99949
HP:0002011	Morphological central nervous system abnormality	80207	OPA3	ORPHA:67036
HP:0002011	Morphological central nervous system abnormality	63035	BCORL1	OMIM:301029
HP:0002011	Morphological central nervous system abnormality	5582	PRKCG	OMIM:605361
HP:0002011	Morphological central nervous system abnormality	5981	RFC1	OMIM:614575
HP:0002011	Morphological central nervous system abnormality	7222	TRPC3	OMIM:616410
HP:0002011	Morphological central nervous system abnormality	7515	XRCC1	OMIM:617633
HP:0002011	Morphological central nervous system abnormality	23533	PIK3R5	OMIM:615217
HP:0002011	Morphological central nervous system abnormality	2196	FAT2	OMIM:617769
HP:0002011	Morphological central nervous system abnormality	3476	IGBP1	OMIM:300472
HP:0002011	Morphological central nervous system abnormality	3476	IGBP1	ORPHA:52055
HP:0002011	Morphological central nervous system abnormality	1024	CDK8	OMIM:618748
HP:0002011	Morphological central nervous system abnormality	2731	GLDC	OMIM:605899
HP:0002011	Morphological central nervous system abnormality	116931	MED12L	OMIM:618872
HP:0002011	Morphological central nervous system abnormality	2018	EMX2	OMIM:269160
HP:0002011	Morphological central nervous system abnormality	55012	PPP2R3C	OMIM:618419
HP:0002011	Morphological central nervous system abnormality	51021	MRPS16	OMIM:610498
HP:0002011	Morphological central nervous system abnormality	129563	DIS3L2	OMIM:267000
HP:0002011	Morphological central nervous system abnormality	64919	BCL11B	OMIM:617237
HP:0002011	Morphological central nervous system abnormality	164	AP1G1	OMIM:619548
HP:0002011	Morphological central nervous system abnormality	3313	HSPA9	OMIM:616854
HP:0002011	Morphological central nervous system abnormality	2657	GDF1	OMIM:208530
HP:0002011	Morphological central nervous system abnormality	1583	CYP11A1	ORPHA:289548
HP:0002011	Morphological central nervous system abnormality	1583	CYP11A1	ORPHA:168558
HP:0002011	Morphological central nervous system abnormality	8092	ALX1	ORPHA:306542
HP:0002011	Morphological central nervous system abnormality	26576	SRPK3	OMIM:301134
HP:0002011	Morphological central nervous system abnormality	283450	HECTD4	OMIM:620250
HP:0002011	Morphological central nervous system abnormality	3106	HLA-B	ORPHA:397
HP:0002011	Morphological central nervous system abnormality	3106	HLA-B	ORPHA:117
HP:0002011	Morphological central nervous system abnormality	8974	P4HA2	ORPHA:397
HP:0002011	Morphological central nervous system abnormality	64170	CARD9	OMIM:212050
HP:0002011	Morphological central nervous system abnormality	695	BTK	OMIM:300755
HP:0002011	Morphological central nervous system abnormality	695	BTK	ORPHA:47
HP:0002011	Morphological central nervous system abnormality	695	BTK	OMIM:307200
HP:0002011	Morphological central nervous system abnormality	7454	WAS	ORPHA:906
HP:0002011	Morphological central nervous system abnormality	7456	WIPF1	ORPHA:906
HP:0002011	Morphological central nervous system abnormality	1493	CTLA4	ORPHA:900
HP:0002011	Morphological central nervous system abnormality	3115	HLA-DPB1	ORPHA:900
HP:0002011	Morphological central nervous system abnormality	5657	PRTN3	ORPHA:900
HP:0002011	Morphological central nervous system abnormality	3113	HLA-DPA1	ORPHA:900
HP:0002011	Morphological central nervous system abnormality	1776	DNASE1L3	ORPHA:36412
HP:0002011	Morphological central nervous system abnormality	596	BCL2	ORPHA:545
HP:0002011	Morphological central nervous system abnormality	3492	IGH	ORPHA:545
HP:0002011	Morphological central nervous system abnormality	604	BCL6	ORPHA:545
HP:0002011	Morphological central nervous system abnormality	959	CD40LG	OMIM:308230
HP:0002011	Morphological central nervous system abnormality	4210	MEFV	ORPHA:342
HP:0002011	Morphological central nervous system abnormality	4210	MEFV	OMIM:249100
HP:0002011	Morphological central nervous system abnormality	4210	MEFV	ORPHA:117
HP:0002011	Morphological central nervous system abnormality	5896	RAG1	OMIM:601457
HP:0002011	Morphological central nervous system abnormality	5897	RAG2	OMIM:601457
HP:0002011	Morphological central nervous system abnormality	58484	NLRC4	OMIM:616050
HP:0002011	Morphological central nervous system abnormality	3718	JAK3	OMIM:600802
HP:0002011	Morphological central nervous system abnormality	629	CFB	OMIM:615561
HP:0002011	Morphological central nervous system abnormality	3543	IGLL1	OMIM:613500
HP:0002011	Morphological central nervous system abnormality	3543	IGLL1	ORPHA:33110
HP:0002011	Morphological central nervous system abnormality	8456	FOXN1	ORPHA:83471
HP:0002011	Morphological central nervous system abnormality	732	C8B	OMIM:613789
HP:0002011	Morphological central nervous system abnormality	114548	NLRP3	OMIM:607115
HP:0002011	Morphological central nervous system abnormality	114548	NLRP3	ORPHA:1451
HP:0002011	Morphological central nervous system abnormality	51135	IRAK4	OMIM:607676
HP:0002011	Morphological central nervous system abnormality	1536	CYBB	ORPHA:379
HP:0002011	Morphological central nervous system abnormality	4688	NCF2	ORPHA:379
HP:0002011	Morphological central nervous system abnormality	1535	CYBA	ORPHA:379
HP:0002011	Morphological central nervous system abnormality	4689	NCF4	ORPHA:379
HP:0002011	Morphological central nervous system abnormality	79415	CYBC1	ORPHA:379
HP:0002011	Morphological central nervous system abnormality	4068	SH2D1A	OMIM:308240
HP:0002011	Morphological central nervous system abnormality	331	XIAP	OMIM:308240
HP:0002011	Morphological central nervous system abnormality	2215	FCGR3B	ORPHA:464370
HP:0002011	Morphological central nervous system abnormality	115650	TNFRSF13C	OMIM:240500
HP:0002011	Morphological central nervous system abnormality	29851	ICOS	OMIM:240500
HP:0002011	Morphological central nervous system abnormality	930	CD19	OMIM:240500
HP:0002011	Morphological central nervous system abnormality	23495	TNFRSF13B	OMIM:240500
HP:0002011	Morphological central nervous system abnormality	1380	CR2	OMIM:240500
HP:0002011	Morphological central nervous system abnormality	7037	TFRC	OMIM:616740
HP:0002011	Morphological central nervous system abnormality	731	C8A	OMIM:613790
HP:0002011	Morphological central nervous system abnormality	57591	MRTFA	OMIM:618847
HP:0002011	Morphological central nervous system abnormality	50943	FOXP3	ORPHA:37042
HP:0002011	Morphological central nervous system abnormality	10095	ARPC1B	OMIM:617718
HP:0002011	Morphological central nervous system abnormality	7852	CXCR4	ORPHA:51636
HP:0002011	Morphological central nervous system abnormality	721	C4B	OMIM:614379
HP:0002011	Morphological central nervous system abnormality	6688	SPI1	OMIM:619707
HP:0002011	Morphological central nervous system abnormality	6688	SPI1	ORPHA:33110
HP:0002011	Morphological central nervous system abnormality	6929	TCF3	ORPHA:33110
HP:0002011	Morphological central nervous system abnormality	7922	SLC39A7	ORPHA:33110
HP:0002011	Morphological central nervous system abnormality	973	CD79A	ORPHA:33110
HP:0002011	Morphological central nervous system abnormality	974	CD79B	ORPHA:33110
HP:0002011	Morphological central nervous system abnormality	3507	IGHM	ORPHA:33110
HP:0002011	Morphological central nervous system abnormality	29760	BLNK	ORPHA:33110
HP:0002011	Morphological central nervous system abnormality	5295	PIK3R1	ORPHA:33110
HP:0002011	Morphological central nervous system abnormality	56262	LRRC8A	ORPHA:33110
HP:0002011	Morphological central nervous system abnormality	149233	IL23R	ORPHA:117
HP:0002011	Morphological central nervous system abnormality	6775	STAT4	ORPHA:117
HP:0002011	Morphological central nervous system abnormality	3586	IL10	ORPHA:117
HP:0002011	Morphological central nervous system abnormality	1230	CCR1	ORPHA:117
HP:0002011	Morphological central nervous system abnormality	3592	IL12A	ORPHA:117
HP:0002011	Morphological central nervous system abnormality	101928376	IL12A-AS1	ORPHA:117
HP:0002011	Morphological central nervous system abnormality	7099	TLR4	ORPHA:117
HP:0002011	Morphological central nervous system abnormality	3459	IFNGR1	ORPHA:117
HP:0002011	Morphological central nervous system abnormality	720	C4A	ORPHA:117
HP:0002011	Morphological central nervous system abnormality	337867	UBAC2	ORPHA:117
HP:0002011	Morphological central nervous system abnormality	51752	ERAP1	ORPHA:117
HP:0002011	Morphological central nervous system abnormality	8302	KLRC4	ORPHA:117
HP:0002011	Morphological central nervous system abnormality	6331	SCN5A	OMIM:614022
HP:0002011	Morphological central nervous system abnormality	6331	SCN5A	OMIM:601154
HP:0002011	Morphological central nervous system abnormality	7148	TNXB	ORPHA:230839
HP:0002011	Morphological central nervous system abnormality	5009	OTC	OMIM:311250
HP:0002011	Morphological central nervous system abnormality	4625	MYH7	ORPHA:1880
HP:0002011	Morphological central nervous system abnormality	2997	GYS1	OMIM:611556
HP:0002011	Morphological central nervous system abnormality	7174	TPP2	ORPHA:444463
HP:0002011	Morphological central nervous system abnormality	2908	NR3C1	ORPHA:786
HP:0002011	Morphological central nervous system abnormality	2908	NR3C1	ORPHA:96253
HP:0002011	Morphological central nervous system abnormality	10560	SLC19A2	ORPHA:49827
HP:0002011	Morphological central nervous system abnormality	10560	SLC19A2	OMIM:249270
HP:0002011	Morphological central nervous system abnormality	11093	ADAMTS13	OMIM:274150
HP:0002011	Morphological central nervous system abnormality	50940	PDE11A	ORPHA:1359
HP:0002011	Morphological central nervous system abnormality	84196	USP48	ORPHA:96253
HP:0002011	Morphological central nervous system abnormality	9101	USP8	ORPHA:96253
HP:0002011	Morphological central nervous system abnormality	9149	DYRK1B	OMIM:615812
HP:0002011	Morphological central nervous system abnormality	5346	PLIN1	OMIM:613877
HP:0002011	Morphological central nervous system abnormality	55107	ANO1	OMIM:620687
HP:0002011	Morphological central nervous system abnormality	2717	GLA	ORPHA:324
HP:0002011	Morphological central nervous system abnormality	3291	HSD11B2	ORPHA:320
HP:0002011	Morphological central nervous system abnormality	2318	FLNC	OMIM:617047
HP:0002011	Morphological central nervous system abnormality	2318	FLNC	ORPHA:75249
HP:0002011	Morphological central nervous system abnormality	10370	CITED2	ORPHA:99105
HP:0002011	Morphological central nervous system abnormality	10370	CITED2	ORPHA:99103
HP:0002011	Morphological central nervous system abnormality	1471	CST3	OMIM:105150
HP:0002011	Morphological central nervous system abnormality	1471	CST3	ORPHA:100008
HP:0002011	Morphological central nervous system abnormality	7092	TLL1	ORPHA:99103
HP:0002011	Morphological central nervous system abnormality	57057	TBX20	ORPHA:99103
HP:0002011	Morphological central nervous system abnormality	4624	MYH6	ORPHA:99103
HP:0002011	Morphological central nervous system abnormality	1482	NKX2-5	ORPHA:99103
HP:0002011	Morphological central nervous system abnormality	70	ACTC1	ORPHA:99103
HP:0002011	Morphological central nervous system abnormality	4607	MYBPC3	OMIM:115197
HP:0002011	Morphological central nervous system abnormality	84665	MYPN	ORPHA:75249
HP:0002011	Morphological central nervous system abnormality	7139	TNNT2	ORPHA:75249
HP:0002011	Morphological central nervous system abnormality	10112	KIF20A	ORPHA:75249
HP:0002011	Morphological central nervous system abnormality	189	AGXT	ORPHA:93598
HP:0002011	Morphological central nervous system abnormality	10269	ZMPSTE24	ORPHA:740
HP:0002011	Morphological central nervous system abnormality	64132	XYLT2	OMIM:264800
HP:0002011	Morphological central nervous system abnormality	80206	FHOD3	OMIM:619402
HP:0002011	Morphological central nervous system abnormality	50485	SMARCAL1	ORPHA:1830
HP:0002011	Morphological central nervous system abnormality	50485	SMARCAL1	OMIM:242900
HP:0002011	Morphological central nervous system abnormality	182	JAG1	OMIM:118450
HP:0002011	Morphological central nervous system abnormality	28976	ACAD9	OMIM:611126
HP:0002011	Morphological central nervous system abnormality	2147	F2	OMIM:601367
HP:0002011	Morphological central nervous system abnormality	5583	PRKCH	OMIM:601367
HP:0002011	Morphological central nervous system abnormality	2153	F5	OMIM:601367
HP:0002011	Morphological central nervous system abnormality	241	ALOX5AP	OMIM:601367
HP:0002011	Morphological central nervous system abnormality	445	ASS1	OMIM:215700
HP:0002011	Morphological central nervous system abnormality	3593	IL12B	ORPHA:3287
HP:0002011	Morphological central nervous system abnormality	6945	MLX	ORPHA:3287
HP:0002011	Morphological central nervous system abnormality	5286	PIK3C2A	ORPHA:557003
HP:0002011	Morphological central nervous system abnormality	4860	PNP	ORPHA:760
HP:0002011	Morphological central nervous system abnormality	4878	NPPA	OMIM:615745
HP:0002011	Morphological central nervous system abnormality	1373	CPS1	OMIM:237300
HP:0002011	Morphological central nervous system abnormality	7535	ZAP70	ORPHA:911
HP:0002011	Morphological central nervous system abnormality	10716	TBR1	OMIM:606053
HP:0002011	Morphological central nervous system abnormality	2110	ETFDH	OMIM:231680
HP:0002011	Morphological central nervous system abnormality	2108	ETFA	OMIM:231680
HP:0002011	Morphological central nervous system abnormality	2109	ETFB	OMIM:231680
HP:0002011	Morphological central nervous system abnormality	4927	NUP88	ORPHA:994
HP:0002011	Morphological central nervous system abnormality	4654	MYOD1	ORPHA:994
HP:0002011	Morphological central nervous system abnormality	5913	RAPSN	ORPHA:994
HP:0002011	Morphological central nervous system abnormality	6572	SLC18A3	ORPHA:994
HP:0002011	Morphological central nervous system abnormality	285489	DOK7	ORPHA:994
HP:0002011	Morphological central nervous system abnormality	132884	EVC2	OMIM:225500
HP:0002011	Morphological central nervous system abnormality	2121	EVC	OMIM:225500
HP:0002011	Morphological central nervous system abnormality	1028	CDKN1C	OMIM:130650
HP:0002011	Morphological central nervous system abnormality	3481	IGF2	OMIM:130650
HP:0002011	Morphological central nervous system abnormality	3784	KCNQ1	OMIM:130650
HP:0002011	Morphological central nervous system abnormality	10984	KCNQ1OT1	OMIM:130650
HP:0002011	Morphological central nervous system abnormality	10613	ERLIN1	ORPHA:401785
HP:0002011	Morphological central nervous system abnormality	10613	ERLIN1	OMIM:615681
HP:0002011	Morphological central nervous system abnormality	81790	RNF170	OMIM:608984
HP:0002011	Morphological central nervous system abnormality	113278	SLC52A3	OMIM:211530
HP:0002011	Morphological central nervous system abnormality	2355	FOSL2	OMIM:620789
HP:0002011	Morphological central nervous system abnormality	10501	SEMA6B	OMIM:618876
HP:0002011	Morphological central nervous system abnormality	22897	CEP164	OMIM:614845
HP:0002011	Morphological central nervous system abnormality	54974	THG1L	OMIM:618800
HP:0002011	Morphological central nervous system abnormality	80856	LNPK	OMIM:618090
HP:0002011	Morphological central nervous system abnormality	10804	GJB6	ORPHA:477
HP:0002011	Morphological central nervous system abnormality	10236	HNRNPR	OMIM:620073
HP:0002011	Morphological central nervous system abnormality	79645	CLXN	OMIM:620642
HP:0002011	Morphological central nervous system abnormality	6095	RORA	OMIM:618060
HP:0002011	Morphological central nervous system abnormality	83700	JAM3	OMIM:613730
HP:0002011	Morphological central nervous system abnormality	55325	UFSP2	OMIM:620028
HP:0002011	Morphological central nervous system abnormality	1736	DKC1	OMIM:305000
HP:0002011	Morphological central nervous system abnormality	1736	DKC1	ORPHA:3322
HP:0002011	Morphological central nervous system abnormality	85300	ATCAY	ORPHA:94122
HP:0002011	Morphological central nervous system abnormality	85300	ATCAY	OMIM:601238
HP:0002011	Morphological central nervous system abnormality	57176	VARS2	OMIM:615917
HP:0002011	Morphological central nervous system abnormality	9690	UBE3C	OMIM:620270
HP:0002011	Morphological central nervous system abnormality	4983	OPHN1	OMIM:300486
HP:0002011	Morphological central nervous system abnormality	4983	OPHN1	ORPHA:137831
HP:0002011	Morphological central nervous system abnormality	55112	DYNC2I1	ORPHA:93271
HP:0002011	Morphological central nervous system abnormality	57560	IFT80	ORPHA:93271
HP:0002011	Morphological central nervous system abnormality	57539	WDR35	ORPHA:93271
HP:0002011	Morphological central nervous system abnormality	79659	DYNC2H1	ORPHA:93271
HP:0002011	Morphological central nervous system abnormality	89891	DYNC2I2	ORPHA:93271
HP:0002011	Morphological central nervous system abnormality	80232	WDR26	ORPHA:513456
HP:0002011	Morphological central nervous system abnormality	5932	RBBP8	OMIM:606744
HP:0002011	Morphological central nervous system abnormality	6507	SLC1A3	OMIM:612656
HP:0002011	Morphological central nervous system abnormality	26277	TINF2	OMIM:613990
HP:0002011	Morphological central nervous system abnormality	26277	TINF2	ORPHA:3322
HP:0002011	Morphological central nervous system abnormality	26277	TINF2	OMIM:268130
HP:0002011	Morphological central nervous system abnormality	26277	TINF2	OMIM:127550
HP:0002011	Morphological central nervous system abnormality	83871	RAB34	OMIM:620718
HP:0002011	Morphological central nervous system abnormality	5119	CHMP1A	OMIM:614961
HP:0002011	Morphological central nervous system abnormality	6773	STAT2	OMIM:618886
HP:0002011	Morphological central nervous system abnormality	10939	AFG3L2	ORPHA:313772
HP:0002011	Morphological central nervous system abnormality	157680	VPS13B	OMIM:216550
HP:0002011	Morphological central nervous system abnormality	23312	DMXL2	OMIM:616113
HP:0002011	Morphological central nervous system abnormality	23312	DMXL2	ORPHA:453533
HP:0002011	Morphological central nervous system abnormality	5073	PARN	OMIM:616353
HP:0002011	Morphological central nervous system abnormality	5073	PARN	ORPHA:3322
HP:0002011	Morphological central nervous system abnormality	23036	ZNF292	OMIM:619188
HP:0002011	Morphological central nervous system abnormality	55154	MSTO1	ORPHA:502423
HP:0002011	Morphological central nervous system abnormality	492	ATP2B3	ORPHA:314978
HP:0002011	Morphological central nervous system abnormality	5373	PMM2	OMIM:212065
HP:0002011	Morphological central nervous system abnormality	5373	PMM2	ORPHA:79318
HP:0002011	Morphological central nervous system abnormality	8241	RBM10	OMIM:311900
HP:0002011	Morphological central nervous system abnormality	8241	RBM10	ORPHA:2886
HP:0002011	Morphological central nervous system abnormality	55280	CWF19L1	OMIM:616127
HP:0002011	Morphological central nervous system abnormality	6134	RPL10	ORPHA:459070
HP:0002011	Morphological central nervous system abnormality	6134	RPL10	OMIM:300998
HP:0002011	Morphological central nervous system abnormality	55165	CEP55	OMIM:236500
HP:0002011	Morphological central nervous system abnormality	4644	MYO5A	ORPHA:33445
HP:0002011	Morphological central nervous system abnormality	79813	EHMT1	ORPHA:261652
HP:0002011	Morphological central nervous system abnormality	58508	KMT2C	ORPHA:261652
HP:0002011	Morphological central nervous system abnormality	8818	DPM2	OMIM:615042
HP:0002011	Morphological central nervous system abnormality	8818	DPM2	ORPHA:329178
HP:0002011	Morphological central nervous system abnormality	8733	GPAA1	ORPHA:529665
HP:0002011	Morphological central nervous system abnormality	8733	GPAA1	OMIM:617810
HP:0002011	Morphological central nervous system abnormality	9474	ATG5	OMIM:617584
HP:0002011	Morphological central nervous system abnormality	51085	MLXIPL	OMIM:194050
HP:0002011	Morphological central nervous system abnormality	55691	FRMD4A	OMIM:616819
HP:0002011	Morphological central nervous system abnormality	23162	MAPK8IP3	OMIM:618443
HP:0002011	Morphological central nervous system abnormality	125988	MICOS13	OMIM:618329
HP:0002011	Morphological central nervous system abnormality	29929	ALG6	ORPHA:79320
HP:0002011	Morphological central nervous system abnormality	51750	RTEL1	ORPHA:3322
HP:0002011	Morphological central nervous system abnormality	51750	RTEL1	OMIM:615190
HP:0002011	Morphological central nervous system abnormality	65057	ACD	ORPHA:3322
HP:0002011	Morphological central nervous system abnormality	65057	ACD	OMIM:616553
HP:0002011	Morphological central nervous system abnormality	10533	ATG7	OMIM:619422
HP:0002011	Morphological central nervous system abnormality	6576	SLC25A1	OMIM:615182
HP:0002011	Morphological central nervous system abnormality	51117	COQ4	OMIM:616276
HP:0002011	Morphological central nervous system abnormality	55656	INTS8	OMIM:618572
HP:0002011	Morphological central nervous system abnormality	84181	CHD6	ORPHA:2108
HP:0002011	Morphological central nervous system abnormality	2879	GPX4	ORPHA:93317
HP:0002011	Morphological central nervous system abnormality	253738	EBF3	ORPHA:96148
HP:0002011	Morphological central nervous system abnormality	998	CDC42	OMIM:616737
HP:0002011	Morphological central nervous system abnormality	7012	TERC	OMIM:127550
HP:0002011	Morphological central nervous system abnormality	23203	PMPCA	OMIM:213200
HP:0002011	Morphological central nervous system abnormality	6821	SUOX	OMIM:272300
HP:0002011	Morphological central nervous system abnormality	6712	SPTBN2	OMIM:600224
HP:0002011	Morphological central nervous system abnormality	3188	HNRNPH2	OMIM:300986
HP:0002011	Morphological central nervous system abnormality	64374	SIL1	ORPHA:559
HP:0002011	Morphological central nervous system abnormality	340075	ARSI	ORPHA:401815
HP:0002011	Morphological central nervous system abnormality	57003	CCDC47	OMIM:618268
HP:0002011	Morphological central nervous system abnormality	27107	ZBTB11	OMIM:618383
HP:0002011	Morphological central nervous system abnormality	6872	TAF1	OMIM:300966
HP:0002011	Morphological central nervous system abnormality	4841	NONO	OMIM:300967
HP:0002011	Morphological central nervous system abnormality	4841	NONO	ORPHA:466791
HP:0002011	Morphological central nervous system abnormality	202018	TAPT1	OMIM:616897
HP:0002011	Morphological central nervous system abnormality	55164	SHQ1	OMIM:619922
HP:0002011	Morphological central nervous system abnormality	7291	TWIST1	OMIM:617746
HP:0002011	Morphological central nervous system abnormality	93587	TRMT10A	ORPHA:391408
HP:0002011	Morphological central nervous system abnormality	84919	PPP1R15B	ORPHA:391408
HP:0002011	Morphological central nervous system abnormality	55074	OXR1	OMIM:213000
HP:0002011	Morphological central nervous system abnormality	498	ATP5F1A	OMIM:615228
HP:0002011	Morphological central nervous system abnormality	8925	HERC1	ORPHA:457359
HP:0002011	Morphological central nervous system abnormality	8925	HERC1	OMIM:617011
HP:0002011	Morphological central nervous system abnormality	10491	CRTAP	ORPHA:2050
HP:0002011	Morphological central nervous system abnormality	55503	TRPV6	OMIM:618188
HP:0002011	Morphological central nervous system abnormality	9231	DLG5	OMIM:620703
HP:0002011	Morphological central nervous system abnormality	131405	TRIM71	OMIM:618667
HP:0002011	Morphological central nervous system abnormality	4125	MAN2B1	ORPHA:309282
HP:0002011	Morphological central nervous system abnormality	9578	CDC42BPB	OMIM:619841
HP:0002011	Morphological central nervous system abnormality	29128	UHRF1	ORPHA:2268
HP:0002011	Morphological central nervous system abnormality	3070	HELLS	ORPHA:2268
HP:0002011	Morphological central nervous system abnormality	1789	DNMT3B	ORPHA:2268
HP:0002011	Morphological central nervous system abnormality	83879	CDCA7	ORPHA:2268
HP:0002011	Morphological central nervous system abnormality	9841	ZBTB24	ORPHA:2268
HP:0002011	Morphological central nervous system abnormality	6938	TCF12	OMIM:615314
HP:0002011	Morphological central nervous system abnormality	71	ACTG1	OMIM:614583
HP:0002011	Morphological central nervous system abnormality	71	ACTG1	ORPHA:2995
HP:0002011	Morphological central nervous system abnormality	348180	CTU2	OMIM:618142
HP:0002011	Morphological central nervous system abnormality	55704	CCDC88A	OMIM:617507
HP:0002011	Morphological central nervous system abnormality	157922	CAMSAP1	OMIM:620316
HP:0002011	Morphological central nervous system abnormality	100506658	OCLN	OMIM:251290
HP:0002011	Morphological central nervous system abnormality	2271	FH	OMIM:606812
HP:0002011	Morphological central nervous system abnormality	3090	HIC1	ORPHA:531
HP:0002011	Morphological central nervous system abnormality	7531	YWHAE	ORPHA:531
HP:0002011	Morphological central nervous system abnormality	23545	ATP6V0A2	ORPHA:357074
HP:0002011	Morphological central nervous system abnormality	529	ATP6V1E1	ORPHA:357074
HP:0002011	Morphological central nervous system abnormality	1020	CDK5	OMIM:616342
HP:0002011	Morphological central nervous system abnormality	412	STS	ORPHA:281090
HP:0002011	Morphological central nervous system abnormality	22931	RAB18	ORPHA:2510
HP:0002011	Morphological central nervous system abnormality	128637	TBC1D20	ORPHA:2510
HP:0002011	Morphological central nervous system abnormality	26276	VPS33B	OMIM:208085
HP:0002011	Morphological central nervous system abnormality	7161	TP73	OMIM:619466
HP:0002011	Morphological central nervous system abnormality	51075	TMX2	OMIM:618730
HP:0002011	Morphological central nervous system abnormality	8738	CRADD	OMIM:614499
HP:0002011	Morphological central nervous system abnormality	55367	PIDD1	OMIM:619827
HP:0002011	Morphological central nervous system abnormality	63894	VIPAS39	OMIM:613404
HP:0002011	Morphological central nervous system abnormality	3730	ANOS1	OMIM:308700
HP:0002011	Morphological central nervous system abnormality	4286	MITF	ORPHA:897
HP:0002011	Morphological central nervous system abnormality	2057	EPOR	OMIM:133100
HP:0002011	Morphological central nervous system abnormality	2677	GGCX	OMIM:277450
HP:0002011	Morphological central nervous system abnormality	55654	TMEM127	OMIM:171300
HP:0002011	Morphological central nervous system abnormality	55654	TMEM127	ORPHA:29072
HP:0002011	Morphological central nervous system abnormality	5979	RET	OMIM:171300
HP:0002011	Morphological central nervous system abnormality	5979	RET	ORPHA:29072
HP:0002011	Morphological central nervous system abnormality	5979	RET	ORPHA:276621
HP:0002011	Morphological central nervous system abnormality	1743	DLST	ORPHA:29072
HP:0002011	Morphological central nervous system abnormality	8402	SLC25A11	ORPHA:29072
HP:0002011	Morphological central nervous system abnormality	54949	SDHAF2	ORPHA:29072
HP:0002011	Morphological central nervous system abnormality	3032	HADHB	OMIM:620300
HP:0002011	Morphological central nervous system abnormality	2335	FN1	ORPHA:84090
HP:0002011	Morphological central nervous system abnormality	2243	FGA	ORPHA:98880
HP:0002011	Morphological central nervous system abnormality	2244	FGB	ORPHA:98880
HP:0002011	Morphological central nervous system abnormality	2266	FGG	ORPHA:98880
HP:0002011	Morphological central nervous system abnormality	3075	CFH	ORPHA:244242
HP:0002011	Morphological central nervous system abnormality	4179	CD46	ORPHA:244242
HP:0002011	Morphological central nervous system abnormality	101101692	HELLPAR	ORPHA:244242
HP:0002011	Morphological central nervous system abnormality	58	ACTA1	OMIM:620278
HP:0002011	Morphological central nervous system abnormality	2165	F13B	ORPHA:331
HP:0002011	Morphological central nervous system abnormality	442721	LMOD2	OMIM:619897
HP:0002011	Morphological central nervous system abnormality	2034	EPAS1	ORPHA:276621
HP:0002011	Morphological central nervous system abnormality	9103	FCGR2C	ORPHA:3002
HP:0002011	Morphological central nervous system abnormality	2582	GALE	OMIM:620776
HP:0002011	Morphological central nervous system abnormality	54658	UGT1A1	OMIM:218800
HP:0002011	Morphological central nervous system abnormality	54658	UGT1A1	OMIM:237900
HP:0002011	Morphological central nervous system abnormality	54658	UGT1A1	ORPHA:79234
HP:0002011	Morphological central nervous system abnormality	6007	RHD	OMIM:619462
HP:0002011	Morphological central nervous system abnormality	6611	SMS	ORPHA:3063
HP:0002011	Morphological central nervous system abnormality	116442	RAB39B	OMIM:311510
HP:0002011	Morphological central nervous system abnormality	23209	MLC1	OMIM:604004
HP:0002011	Morphological central nervous system abnormality	3199	HOXA2	ORPHA:83463
HP:0002011	Morphological central nervous system abnormality	5925	RB1	ORPHA:1587
HP:0002011	Morphological central nervous system abnormality	4524	MTHFR	ORPHA:395
HP:0002011	Morphological central nervous system abnormality	284058	KANSL1	ORPHA:363958
HP:0002011	Morphological central nervous system abnormality	284058	KANSL1	OMIM:610443
HP:0002011	Morphological central nervous system abnormality	284058	KANSL1	ORPHA:363965
HP:0002011	Morphological central nervous system abnormality	2072	ERCC4	OMIM:278760
HP:0002011	Morphological central nervous system abnormality	23314	SATB2	ORPHA:251028
HP:0002011	Morphological central nervous system abnormality	201163	FLCN	OMIM:610883
HP:0002011	Morphological central nervous system abnormality	79087	ALG12	ORPHA:79324
HP:0002011	Morphological central nervous system abnormality	25981	DNAH1	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	115948	ODAD3	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	54768	HYDIN	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	352909	DNAAF3	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	27148	STK36	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	51314	NME8	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	92749	DRC1	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	54970	TTC12	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	152110	NEK10	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	8481	OFD1	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	2302	FOXJ1	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	221421	RSPH9	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	85478	CCDC65	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	55036	CCDC40	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	51364	ZMYND10	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	64446	DNAI2	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	8382	NME5	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	6674	SPAG1	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	83544	DNAL1	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	89765	RSPH1	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	83538	ODAD4	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	200373	CFAP221	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	374407	DNAJB13	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	55172	DNAAF2	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	161582	DNAAF4	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	2622	GAS8	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	23639	DNAAF11	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	27019	DNAI1	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	345895	RSPH4A	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	54919	DNAAF5	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	6103	RPGR	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	85452	CFAP74	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	93233	ODAD1	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	55130	ODAD2	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	1767	DNAH5	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	83861	RSPH3	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	345643	MCIDAS	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	56683	CFAP298	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	79925	SPEF2	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	10309	CCNO	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	115399	LRRC56	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	139212	DNAAF6	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	123872	DNAAF1	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	85016	CFAP300	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	339829	CCDC39	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	8701	DNAH11	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	1770	DNAH9	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	246176	GAS2L2	ORPHA:244
HP:0002011	Morphological central nervous system abnormality	652	BMP4	OMIM:607932
HP:0002011	Morphological central nervous system abnormality	7468	NSD2	OMIM:194190
HP:0002011	Morphological central nervous system abnormality	10815	CPLX1	OMIM:194190
HP:0002011	Morphological central nervous system abnormality	1487	CTBP1	OMIM:194190
HP:0002011	Morphological central nervous system abnormality	53834	FGFRL1	OMIM:194190
HP:0002011	Morphological central nervous system abnormality	3954	LETM1	OMIM:194190
HP:0002011	Morphological central nervous system abnormality	6515	SLC2A3	ORPHA:399
HP:0002011	Morphological central nervous system abnormality	1497	CTNS	OMIM:219800
HP:0002011	Morphological central nervous system abnormality	65267	WNK3	OMIM:309610
HP:0002011	Morphological central nervous system abnormality	101060691	NUTM2B-AS1	OMIM:618637
HP:0002011	Morphological central nervous system abnormality	54982	CLN6	OMIM:204300
HP:0002011	Morphological central nervous system abnormality	5105	PCK1	OMIM:261680
HP:0002011	Morphological central nervous system abnormality	5833	PCYT2	OMIM:618770
HP:0002011	Morphological central nervous system abnormality	1201	CLN3	OMIM:204200
HP:0002011	Morphological central nervous system abnormality	92609	TIMM50	OMIM:617698
HP:0002011	Morphological central nervous system abnormality	92609	TIMM50	ORPHA:505216
HP:0002011	Morphological central nervous system abnormality	4076	CAPRIN1	OMIM:620636
HP:0002011	Morphological central nervous system abnormality	10531	PITRM1	OMIM:619405
HP:0002011	Morphological central nervous system abnormality	23556	PIGN	OMIM:614080
HP:0002011	Morphological central nervous system abnormality	339855	KY	ORPHA:496689
HP:0002011	Morphological central nervous system abnormality	29960	MRM2	OMIM:618567
HP:0002011	Morphological central nervous system abnormality	23189	KANK1	OMIM:612900
HP:0002011	Morphological central nervous system abnormality	2055	CLN8	ORPHA:1947
HP:0002011	Morphological central nervous system abnormality	2055	CLN8	OMIM:600143
HP:0002011	Morphological central nervous system abnormality	2055	CLN8	OMIM:610003
HP:0002011	Morphological central nervous system abnormality	8813	DPM1	ORPHA:79322
HP:0002011	Morphological central nervous system abnormality	26100	WIPI2	OMIM:618453
HP:0002011	Morphological central nervous system abnormality	27429	HTRA2	OMIM:617248
HP:0002011	Morphological central nervous system abnormality	57520	HECW2	OMIM:617268
HP:0002011	Morphological central nervous system abnormality	1760	DMPK	OMIM:160900
HP:0002011	Morphological central nervous system abnormality	5934	RBL2	OMIM:619690
HP:0002011	Morphological central nervous system abnormality	79709	COLGALT1	OMIM:618360
HP:0002011	Morphological central nervous system abnormality	5071	PRKN	OMIM:600116
HP:0002011	Morphological central nervous system abnormality	4704	NDUFA9	OMIM:618247
HP:0002011	Morphological central nervous system abnormality	127833	SYT2	OMIM:619461
HP:0002011	Morphological central nervous system abnormality	4714	NDUFB8	OMIM:618252
HP:0002011	Morphological central nervous system abnormality	84896	ATAD1	OMIM:618011
HP:0002011	Morphological central nervous system abnormality	220296	HEPACAM	OMIM:613925
HP:0002011	Morphological central nervous system abnormality	3975	LHX1	ORPHA:261265
HP:0002011	Morphological central nervous system abnormality	6928	HNF1B	ORPHA:261265
HP:0002011	Morphological central nervous system abnormality	2571	GAD1	OMIM:619124
HP:0002011	Morphological central nervous system abnormality	1200	TPP1	OMIM:204500
HP:0002011	Morphological central nervous system abnormality	57704	GBA2	ORPHA:320391
HP:0002011	Morphological central nervous system abnormality	57704	GBA2	OMIM:614409
HP:0002011	Morphological central nervous system abnormality	57704	GBA2	ORPHA:352641
HP:0002011	Morphological central nervous system abnormality	9487	PIGL	OMIM:280000
HP:0002011	Morphological central nervous system abnormality	51102	MECR	ORPHA:508093
HP:0002011	Morphological central nervous system abnormality	162	AP1B1	OMIM:242150
HP:0002011	Morphological central nervous system abnormality	54476	RNF216	OMIM:212840
HP:0002011	Morphological central nervous system abnormality	51324	SPG21	OMIM:248900
HP:0002011	Morphological central nervous system abnormality	64207	IRF2BPL	OMIM:618088
HP:0002011	Morphological central nervous system abnormality	55037	PTCD3	OMIM:619057
HP:0002011	Morphological central nervous system abnormality	7841	MOGS	OMIM:606056
HP:0002011	Morphological central nervous system abnormality	8772	FADD	OMIM:613759
HP:0002011	Morphological central nervous system abnormality	8772	FADD	ORPHA:306550
HP:0002011	Morphological central nervous system abnormality	54675	CRLS1	OMIM:620167
HP:0002011	Morphological central nervous system abnormality	5095	PCCA	OMIM:606054
HP:0002011	Morphological central nervous system abnormality	5096	PCCB	OMIM:606054
HP:0002011	Morphological central nervous system abnormality	7466	WFS1	OMIM:222300
HP:0002011	Morphological central nervous system abnormality	5826	ABCD4	OMIM:614857
HP:0002011	Morphological central nervous system abnormality	5521	PPP2R2B	ORPHA:98762
HP:0002011	Morphological central nervous system abnormality	6314	ATXN7	ORPHA:94147
HP:0002011	Morphological central nervous system abnormality	57017	COQ9	OMIM:614654
HP:0002011	Morphological central nervous system abnormality	64116	SLC39A8	OMIM:616721
HP:0002011	Morphological central nervous system abnormality	132	ADK	OMIM:614300
HP:0002011	Morphological central nervous system abnormality	53616	ADAM22	OMIM:617933
HP:0002011	Morphological central nervous system abnormality	2258	FGF13	OMIM:301058
HP:0002011	Morphological central nervous system abnormality	9150	CTDP1	OMIM:604168
HP:0002011	Morphological central nervous system abnormality	54822	TRPM7	OMIM:105500
HP:0002011	Morphological central nervous system abnormality	2891	GRIA2	OMIM:618917
HP:0002011	Morphological central nervous system abnormality	23732	FRRS1L	OMIM:616981
HP:0002011	Morphological central nervous system abnormality	29940	DSE	OMIM:615539
HP:0002011	Morphological central nervous system abnormality	5538	PPT1	OMIM:256730
HP:0002011	Morphological central nervous system abnormality	2806	GOT2	OMIM:618721
HP:0002011	Morphological central nervous system abnormality	22978	NT5C2	OMIM:613162
HP:0002011	Morphological central nervous system abnormality	22868	FASTKD2	OMIM:618855
HP:0002011	Morphological central nervous system abnormality	57338	JPH3	ORPHA:98934
HP:0002011	Morphological central nervous system abnormality	2138	EYA1	OMIM:113650
HP:0002011	Morphological central nervous system abnormality	6495	SIX1	OMIM:113650
HP:0002011	Morphological central nervous system abnormality	5621	PRNP	ORPHA:356
HP:0002011	Morphological central nervous system abnormality	9217	VAPB	OMIM:608627
HP:0002011	Morphological central nervous system abnormality	6315	ATXN8OS	OMIM:608768
HP:0002011	Morphological central nervous system abnormality	724066	ATXN8	OMIM:608768
HP:0002011	Morphological central nervous system abnormality	9131	AIFM1	ORPHA:83629
HP:0002011	Morphological central nervous system abnormality	3748	KCNC3	OMIM:605259
HP:0002011	Morphological central nervous system abnormality	11277	TREX1	OMIM:225750
HP:0002011	Morphological central nervous system abnormality	25814	ATXN10	OMIM:603516
HP:0002011	Morphological central nervous system abnormality	4137	MAPT	OMIM:260540
HP:0002011	Morphological central nervous system abnormality	80169	CTC1	OMIM:612199
HP:0002011	Morphological central nervous system abnormality	8575	PRKRA	OMIM:612067
HP:0002011	Morphological central nervous system abnormality	8398	PLA2G6	OMIM:256600
HP:0002011	Morphological central nervous system abnormality	6531	SLC6A3	OMIM:613135
HP:0002011	Morphological central nervous system abnormality	2581	GALC	ORPHA:206448
HP:0002011	Morphological central nervous system abnormality	6513	SLC2A1	OMIM:601042
HP:0002011	Morphological central nervous system abnormality	80704	SLC19A3	OMIM:607483
HP:0002011	Morphological central nervous system abnormality	1807	DPYS	OMIM:222748
HP:0002011	Morphological central nervous system abnormality	79944	L2HGDH	OMIM:236792
HP:0002011	Morphological central nervous system abnormality	8139	GAN	OMIM:256850
HP:0002011	Morphological central nervous system abnormality	1203	CLN5	OMIM:256731
HP:0002011	Morphological central nervous system abnormality	80331	DNAJC5	OMIM:162350
HP:0002011	Morphological central nervous system abnormality	343450	KCNT2	OMIM:617771
HP:0002011	Morphological central nervous system abnormality	6844	VAMP2	OMIM:618760
HP:0002011	Morphological central nervous system abnormality	11232	POLG2	OMIM:618528
HP:0002011	Morphological central nervous system abnormality	113612	CYP2U1	OMIM:615030
HP:0002011	Morphological central nervous system abnormality	113612	CYP2U1	ORPHA:320411
HP:0002011	Morphological central nervous system abnormality	51098	IFT52	OMIM:617102
HP:0002011	Morphological central nervous system abnormality	10765	KDM5B	OMIM:618109
HP:0002011	Morphological central nervous system abnormality	2671	GFER	ORPHA:330054
HP:0002011	Morphological central nervous system abnormality	11160	ERLIN2	ORPHA:209951
HP:0002011	Morphological central nervous system abnormality	11160	ERLIN2	OMIM:611225
HP:0002011	Morphological central nervous system abnormality	2560	GABRB1	OMIM:617153
HP:0002011	Morphological central nervous system abnormality	5332	PLCB4	OMIM:620458
HP:0002011	Morphological central nervous system abnormality	285590	SH3PXD2B	OMIM:249420
HP:0002011	Morphological central nervous system abnormality	23400	ATP13A2	ORPHA:513436
HP:0002011	Morphological central nervous system abnormality	9907	AP5Z1	OMIM:613647
HP:0002011	Morphological central nervous system abnormality	9907	AP5Z1	ORPHA:306511
HP:0002011	Morphological central nervous system abnormality	1267	CNP	OMIM:619071
HP:0002011	Morphological central nervous system abnormality	23503	ZFYVE26	OMIM:270700
HP:0002011	Morphological central nervous system abnormality	23503	ZFYVE26	ORPHA:100996
HP:0002011	Morphological central nervous system abnormality	51244	CCDC174	OMIM:616816
HP:0002011	Morphological central nervous system abnormality	200403	VWA3B	OMIM:616948
HP:0002011	Morphological central nervous system abnormality	11020	IFT27	OMIM:615996
HP:0002011	Morphological central nervous system abnormality	23291	FBXW11	OMIM:618914
HP:0002011	Morphological central nervous system abnormality	51663	ZFR	ORPHA:401840
HP:0002011	Morphological central nervous system abnormality	1468	SLC25A10	OMIM:618972
HP:0002011	Morphological central nervous system abnormality	5307	PITX1	OMIM:119800
HP:0002011	Morphological central nervous system abnormality	4858	NOVA2	OMIM:618859
HP:0002011	Morphological central nervous system abnormality	51082	POLR1D	ORPHA:861
HP:0002011	Morphological central nervous system abnormality	56603	CYP26B1	OMIM:614416
HP:0002011	Morphological central nervous system abnormality	22800	RRAS2	OMIM:618624
HP:0002011	Morphological central nervous system abnormality	3008	H1-4	OMIM:617537
HP:0002011	Morphological central nervous system abnormality	51111	KMT5B	OMIM:617788
HP:0002011	Morphological central nervous system abnormality	4149	MAX	OMIM:620712
HP:0002011	Morphological central nervous system abnormality	113189	CHST14	ORPHA:2953
HP:0002011	Morphological central nervous system abnormality	113189	CHST14	OMIM:601776
HP:0002011	Morphological central nervous system abnormality	3340	NDST1	OMIM:616116
HP:0002011	Morphological central nervous system abnormality	54	ACP5	ORPHA:1855
HP:0002011	Morphological central nervous system abnormality	3098	HK1	OMIM:618547
HP:0002011	Morphological central nervous system abnormality	2203	FBP1	ORPHA:348
HP:0002011	Morphological central nervous system abnormality	1107	CHD3	OMIM:618205
HP:0002011	Morphological central nervous system abnormality	92335	STRADA	ORPHA:500533
HP:0002011	Morphological central nervous system abnormality	92335	STRADA	OMIM:611087
HP:0002011	Morphological central nervous system abnormality	10102	TSFM	OMIM:610505
HP:0002011	Morphological central nervous system abnormality	100033413	SNORD116-1	OMIM:176270
HP:0002011	Morphological central nervous system abnormality	8924	HERC2	OMIM:176270
HP:0002011	Morphological central nervous system abnormality	23742	NPAP1	OMIM:176270
HP:0002011	Morphological central nervous system abnormality	338433	SNORD115-1	OMIM:176270
HP:0002011	Morphological central nervous system abnormality	54551	MAGEL2	OMIM:176270
HP:0002011	Morphological central nervous system abnormality	54551	MAGEL2	ORPHA:398069
HP:0002011	Morphological central nervous system abnormality	54551	MAGEL2	ORPHA:98754
HP:0002011	Morphological central nervous system abnormality	54551	MAGEL2	ORPHA:177904
HP:0002011	Morphological central nervous system abnormality	54551	MAGEL2	ORPHA:177901
HP:0002011	Morphological central nervous system abnormality	7681	MKRN3	OMIM:176270
HP:0002011	Morphological central nervous system abnormality	145624	PWAR1	OMIM:176270
HP:0002011	Morphological central nervous system abnormality	3653	IPW	OMIM:176270
HP:0002011	Morphological central nervous system abnormality	791114	PWRN1	OMIM:176270
HP:0002011	Morphological central nervous system abnormality	650	BMP2	ORPHA:261295
HP:0002011	Morphological central nervous system abnormality	23102	TBC1D2B	OMIM:619323
HP:0002011	Morphological central nervous system abnormality	6492	SIM1	ORPHA:398079
HP:0002011	Morphological central nervous system abnormality	1108	CHD4	OMIM:617159
HP:0002011	Morphological central nervous system abnormality	633	BGN	OMIM:300989
HP:0002011	Morphological central nervous system abnormality	80036	TRPM3	OMIM:620224
HP:0002011	Morphological central nervous system abnormality	55252	ASXL2	OMIM:617190
HP:0002011	Morphological central nervous system abnormality	4781	NFIB	OMIM:618286
HP:0002011	Morphological central nervous system abnormality	57538	ALPK3	OMIM:618052
HP:0002011	Morphological central nervous system abnormality	2892	GRIA3	OMIM:300699
HP:0002011	Morphological central nervous system abnormality	9570	GOSR2	OMIM:620166
HP:0002011	Morphological central nervous system abnormality	4591	TRIM37	OMIM:253250
HP:0002011	Morphological central nervous system abnormality	2615	LRRC32	OMIM:619074
HP:0002011	Morphological central nervous system abnormality	4692	NDN	ORPHA:98754
HP:0002011	Morphological central nervous system abnormality	4692	NDN	ORPHA:177904
HP:0002011	Morphological central nervous system abnormality	4692	NDN	ORPHA:177901
HP:0002011	Morphological central nervous system abnormality	4948	OCA2	ORPHA:98754
HP:0002011	Morphological central nervous system abnormality	4948	OCA2	ORPHA:177904
HP:0002011	Morphological central nervous system abnormality	4948	OCA2	ORPHA:177901
HP:0002011	Morphological central nervous system abnormality	23483	TGDS	ORPHA:1388
HP:0002011	Morphological central nervous system abnormality	11133	KPTN	OMIM:615637
HP:0002011	Morphological central nervous system abnormality	10943	MSL3	OMIM:301032
HP:0002011	Morphological central nervous system abnormality	8985	PLOD3	OMIM:612394
HP:0002011	Morphological central nervous system abnormality	8936	WASF1	OMIM:618707
HP:0002011	Morphological central nervous system abnormality	113246	C12orf57	OMIM:218340
HP:0002011	Morphological central nervous system abnormality	7137	TNNI3	OMIM:115210
HP:0002011	Morphological central nervous system abnormality	23309	SIN3B	ORPHA:500166
HP:0002011	Morphological central nervous system abnormality	3852	KRT5	ORPHA:79396
HP:0002011	Morphological central nervous system abnormality	3861	KRT14	ORPHA:79396
HP:0002011	Morphological central nervous system abnormality	58499	ZNF462	OMIM:618619
HP:0002011	Morphological central nervous system abnormality	25792	CIZ1	ORPHA:420492
HP:0002011	Morphological central nervous system abnormality	4582	MUC1	OMIM:174000
HP:0002011	Morphological central nervous system abnormality	493856	CISD2	ORPHA:3463
HP:0002011	Morphological central nervous system abnormality	10452	TOMM40	ORPHA:1020
HP:0002011	Morphological central nervous system abnormality	6653	SORL1	ORPHA:1020
HP:0002011	Morphological central nervous system abnormality	2583	B4GALNT1	OMIM:609195
HP:0002011	Morphological central nervous system abnormality	2583	B4GALNT1	ORPHA:101006
HP:0002011	Morphological central nervous system abnormality	27249	MMADHC	OMIM:277410
HP:0002011	Morphological central nervous system abnormality	55630	SLC39A4	ORPHA:37
HP:0002011	Morphological central nervous system abnormality	10166	SLC25A15	ORPHA:415
HP:0002011	Morphological central nervous system abnormality	10166	SLC25A15	OMIM:238970
HP:0002011	Morphological central nervous system abnormality	54834	GDAP2	OMIM:618369
HP:0002011	Morphological central nervous system abnormality	23317	DNAJC13	ORPHA:411602
HP:0002011	Morphological central nervous system abnormality	1981	EIF4G1	ORPHA:411602
HP:0002011	Morphological central nervous system abnormality	55737	VPS35	ORPHA:411602
HP:0002011	Morphological central nervous system abnormality	120892	LRRK2	ORPHA:411602
HP:0002011	Morphological central nervous system abnormality	26058	GIGYF2	ORPHA:411602
HP:0002011	Morphological central nervous system abnormality	10283	CWC27	OMIM:250410
HP:0002011	Morphological central nervous system abnormality	10283	CWC27	ORPHA:166035
HP:0002011	Morphological central nervous system abnormality	60558	GUF1	OMIM:617065
HP:0002011	Morphological central nervous system abnormality	27183	VPS4A	OMIM:619273
HP:0002011	Morphological central nervous system abnormality	9488	PIGB	OMIM:618580
HP:0002011	Morphological central nervous system abnormality	8450	CUL4B	OMIM:300354
HP:0002011	Morphological central nervous system abnormality	79903	NAA60	OMIM:620786
HP:0002011	Morphological central nervous system abnormality	9342	SNAP29	ORPHA:66631
HP:0002011	Morphological central nervous system abnormality	9342	SNAP29	OMIM:609528
HP:0002011	Morphological central nervous system abnormality	54931	TRMT10C	OMIM:616974
HP:0002011	Morphological central nervous system abnormality	8320	EOMES	ORPHA:171703
HP:0002011	Morphological central nervous system abnormality	8131	NPRL3	ORPHA:98820
HP:0002011	Morphological central nervous system abnormality	10641	NPRL2	ORPHA:98820
HP:0002011	Morphological central nervous system abnormality	80311	KLHL15	OMIM:300982
HP:0002011	Morphological central nervous system abnormality	1822	ATN1	OMIM:618494
HP:0002011	Morphological central nervous system abnormality	4204	MECP2	OMIM:300673
HP:0002011	Morphological central nervous system abnormality	4204	MECP2	ORPHA:209370
HP:0002011	Morphological central nervous system abnormality	23512	SUZ12	OMIM:618786
HP:0002011	Morphological central nervous system abnormality	526	ATP6V1B2	ORPHA:79500
HP:0002011	Morphological central nervous system abnormality	3800	KIF5C	OMIM:615282
HP:0002011	Morphological central nervous system abnormality	79143	MBOAT7	OMIM:617188
HP:0002011	Morphological central nervous system abnormality	10319	LAMC3	OMIM:614115
HP:0002011	Morphological central nervous system abnormality	5879	RAC1	OMIM:617751
HP:0002011	Morphological central nervous system abnormality	5879	RAC1	ORPHA:500159
HP:0002011	Morphological central nervous system abnormality	168667	BMPER	OMIM:608022
HP:0002011	Morphological central nervous system abnormality	9636	ISG15	OMIM:616126
HP:0002011	Morphological central nervous system abnormality	2767	GNA11	OMIM:615361
HP:0002011	Morphological central nervous system abnormality	2625	GATA3	OMIM:146255
HP:0002011	Morphological central nervous system abnormality	90	ACVR1	OMIM:135100
HP:0002011	Morphological central nervous system abnormality	56984	PSMG2	OMIM:619183
HP:0002011	Morphological central nervous system abnormality	846	CASR	OMIM:601198
HP:0002011	Morphological central nervous system abnormality	5696	PSMB8	OMIM:256040
HP:0002011	Morphological central nervous system abnormality	4088	SMAD3	OMIM:613795
HP:0002011	Morphological central nervous system abnormality	4088	SMAD3	ORPHA:91387
HP:0002011	Morphological central nervous system abnormality	2159	F10	ORPHA:328
HP:0002011	Morphological central nervous system abnormality	51816	ADA2	ORPHA:820
HP:0002011	Morphological central nervous system abnormality	81704	DOCK8	OMIM:243700
HP:0002011	Morphological central nervous system abnormality	6786	STIM1	OMIM:185070
HP:0002011	Morphological central nervous system abnormality	4629	MYH11	ORPHA:91387
HP:0002011	Morphological central nervous system abnormality	4015	LOX	ORPHA:91387
HP:0002011	Morphological central nervous system abnormality	4087	SMAD2	ORPHA:91387
HP:0002011	Morphological central nervous system abnormality	7043	TGFB3	ORPHA:91387
HP:0002011	Morphological central nervous system abnormality	7042	TGFB2	ORPHA:91387
HP:0002011	Morphological central nervous system abnormality	5592	PRKG1	ORPHA:91387
HP:0002011	Morphological central nervous system abnormality	2301	FOXE3	ORPHA:91387
HP:0002011	Morphological central nervous system abnormality	4144	MAT2A	ORPHA:91387
HP:0002011	Morphological central nervous system abnormality	23493	HEY2	ORPHA:91387
HP:0002011	Morphological central nervous system abnormality	8076	MFAP5	ORPHA:91387
HP:0002011	Morphological central nervous system abnormality	4638	MYLK	ORPHA:91387
HP:0002011	Morphological central nervous system abnormality	79875	THSD4	ORPHA:91387
HP:0002011	Morphological central nervous system abnormality	2811	GP1BA	ORPHA:853
HP:0002011	Morphological central nervous system abnormality	3674	ITGA2B	ORPHA:853
HP:0002011	Morphological central nervous system abnormality	3673	ITGA2	ORPHA:853
HP:0002011	Morphological central nervous system abnormality	135228	CD109	ORPHA:853
HP:0002011	Morphological central nervous system abnormality	3690	ITGB3	ORPHA:853
HP:0002011	Morphological central nervous system abnormality	81031	SLC2A10	OMIM:208050
HP:0002011	Morphological central nervous system abnormality	79184	BRCC3	ORPHA:280679
HP:0002011	Morphological central nervous system abnormality	2706	GJB2	ORPHA:494
HP:0002011	Morphological central nervous system abnormality	28982	FLVCR1	ORPHA:88628
HP:0002011	Morphological central nervous system abnormality	215	ABCD1	ORPHA:139399
HP:0002011	Morphological central nervous system abnormality	215	ABCD1	ORPHA:139396
HP:0002011	Morphological central nervous system abnormality	22948	CCT5	ORPHA:139578
HP:0002011	Morphological central nervous system abnormality	9927	MFN2	ORPHA:99947
HP:0002011	Morphological central nervous system abnormality	3187	HNRNPH1	OMIM:620083
HP:0002011	Morphological central nervous system abnormality	54892	NCAPG2	OMIM:618460
HP:0002011	Morphological central nervous system abnormality	10093	ARPC4	OMIM:620141
HP:0002011	Morphological central nervous system abnormality	4774	NFIA	ORPHA:401986
HP:0002011	Morphological central nervous system abnormality	7750	ZMYM2	OMIM:619522
HP:0002011	Morphological central nervous system abnormality	171546	SPTSSA	OMIM:620416
HP:0002011	Morphological central nervous system abnormality	171546	SPTSSA	OMIM:620417
HP:0002011	Morphological central nervous system abnormality	2155	F7	OMIM:227500
HP:0002011	Morphological central nervous system abnormality	2155	F7	ORPHA:327
HP:0002011	Morphological central nervous system abnormality	5345	SERPINF2	ORPHA:79
HP:0002011	Morphological central nervous system abnormality	5054	SERPINE1	ORPHA:465
HP:0002011	Morphological central nervous system abnormality	249	ALPL	OMIM:241500
HP:0002011	Morphological central nervous system abnormality	3998	LMAN1	ORPHA:35909
HP:0002011	Morphological central nervous system abnormality	90411	MCFD2	ORPHA:35909
HP:0002011	Morphological central nervous system abnormality	2162	F13A1	OMIM:613225
HP:0002011	Morphological central nervous system abnormality	1584	CYP11B1	ORPHA:90795
HP:0002011	Morphological central nervous system abnormality	1584	CYP11B1	ORPHA:403
HP:0002011	Morphological central nervous system abnormality	2157	F8	ORPHA:169805
HP:0002011	Morphological central nervous system abnormality	2157	F8	ORPHA:169802
HP:0002011	Morphological central nervous system abnormality	2624	GATA2	ORPHA:228423
HP:0002011	Morphological central nervous system abnormality	1181	CLCN2	ORPHA:404
HP:0002011	Morphological central nervous system abnormality	1585	CYP11B2	ORPHA:403
HP:0002011	Morphological central nervous system abnormality	776	CACNA1D	ORPHA:369929
HP:0002011	Morphological central nervous system abnormality	3762	KCNJ5	ORPHA:251274
HP:0002011	Morphological central nervous system abnormality	5251	PHEX	OMIM:307800
HP:0002011	Morphological central nervous system abnormality	5251	PHEX	ORPHA:89936
HP:0002011	Morphological central nervous system abnormality	4921	DDR2	OMIM:271665
HP:0002011	Morphological central nervous system abnormality	595	CCND1	ORPHA:29073
HP:0002011	Morphological central nervous system abnormality	3423	IDS	ORPHA:217085
HP:0002011	Morphological central nervous system abnormality	3423	IDS	ORPHA:217093
HP:0002011	Morphological central nervous system abnormality	238	ALK	ORPHA:626
HP:0002011	Morphological central nervous system abnormality	238	ALK	ORPHA:635
HP:0002011	Morphological central nervous system abnormality	9839	ZEB2	ORPHA:626
HP:0002011	Morphological central nervous system abnormality	4893	NRAS	ORPHA:626
HP:0002011	Morphological central nervous system abnormality	673	BRAF	ORPHA:626
HP:0002011	Morphological central nervous system abnormality	5894	RAF1	ORPHA:626
HP:0002011	Morphological central nervous system abnormality	1280	COL2A1	ORPHA:94068
HP:0002011	Morphological central nervous system abnormality	1280	COL2A1	ORPHA:485
HP:0002011	Morphological central nervous system abnormality	1280	COL2A1	ORPHA:93346
HP:0002011	Morphological central nervous system abnormality	1836	SLC26A2	ORPHA:628
HP:0002011	Morphological central nervous system abnormality	1836	SLC26A2	OMIM:222600
HP:0002011	Morphological central nervous system abnormality	2778	GNAS	ORPHA:79443
HP:0002011	Morphological central nervous system abnormality	2131	EXT1	ORPHA:321
HP:0002011	Morphological central nervous system abnormality	2132	EXT2	ORPHA:321
HP:0002011	Morphological central nervous system abnormality	59341	TRPV4	OMIM:113500
HP:0002011	Morphological central nervous system abnormality	25839	COG4	OMIM:618150
HP:0002011	Morphological central nervous system abnormality	3043	HBB	ORPHA:231222
HP:0002011	Morphological central nervous system abnormality	2317	FLNB	OMIM:150250
HP:0002011	Morphological central nervous system abnormality	2137	EXTL3	OMIM:617425
HP:0002011	Morphological central nervous system abnormality	23095	KIF1B	OMIM:256700
HP:0002011	Morphological central nervous system abnormality	25871	NEPRO	OMIM:618853
HP:0002011	Morphological central nervous system abnormality	2304	FOXE1	ORPHA:319487
HP:0002011	Morphological central nervous system abnormality	3026	HABP2	ORPHA:319487
HP:0002011	Morphological central nervous system abnormality	9562	MINPP1	ORPHA:319487
HP:0002011	Morphological central nervous system abnormality	567	B2M	ORPHA:314652
HP:0002011	Morphological central nervous system abnormality	1763	DNA2	OMIM:615807
HP:0002011	Morphological central nervous system abnormality	2629	GBA1	ORPHA:77259
HP:0002011	Morphological central nervous system abnormality	950	SCARB2	ORPHA:77259
HP:0002011	Morphological central nervous system abnormality	4613	MYCN	ORPHA:635
HP:0002011	Morphological central nervous system abnormality	389421	LIN28B	ORPHA:635
HP:0002011	Morphological central nervous system abnormality	4004	LMO1	ORPHA:635
HP:0002011	Morphological central nervous system abnormality	57531	HACE1	ORPHA:635
HP:0002011	Morphological central nervous system abnormality	126792	B3GALT6	OMIM:271640
HP:0002011	Morphological central nervous system abnormality	11152	WDR45	OMIM:300894
HP:0002011	Morphological central nervous system abnormality	2512	FTL	OMIM:606159
HP:0002011	Morphological central nervous system abnormality	55739	NAXD	OMIM:618321
HP:0002011	Morphological central nervous system abnormality	7345	UCHL1	OMIM:615491
HP:0002011	Morphological central nervous system abnormality	7343	UBTF	OMIM:617672
HP:0002011	Morphological central nervous system abnormality	54902	TTC19	OMIM:615157
HP:0002011	Morphological central nervous system abnormality	2495	FTH1	OMIM:620669
HP:0002011	Morphological central nervous system abnormality	1737	DLAT	ORPHA:79244
HP:0002011	Morphological central nervous system abnormality	25978	CHMP2B	ORPHA:803
HP:0002011	Morphological central nervous system abnormality	3178	HNRNPA1	ORPHA:803
HP:0002011	Morphological central nervous system abnormality	8148	TAF15	ORPHA:803
HP:0002011	Morphological central nervous system abnormality	5445	PON2	ORPHA:803
HP:0002011	Morphological central nervous system abnormality	5630	PRPH	ORPHA:803
HP:0002011	Morphological central nervous system abnormality	55830	GLT8D1	ORPHA:803
HP:0002011	Morphological central nervous system abnormality	755	CFAP410	ORPHA:803
HP:0002011	Morphological central nervous system abnormality	10891	PPARGC1A	ORPHA:803
HP:0002011	Morphological central nervous system abnormality	6647	SOD1	ORPHA:803
HP:0002011	Morphological central nervous system abnormality	10133	OPTN	ORPHA:803
HP:0002011	Morphological central nervous system abnormality	1639	DCTN1	ORPHA:803
HP:0002011	Morphological central nervous system abnormality	5444	PON1	ORPHA:803
HP:0002011	Morphological central nervous system abnormality	5446	PON3	ORPHA:803
HP:0002011	Morphological central nervous system abnormality	4744	NEFH	ORPHA:803
HP:0002011	Morphological central nervous system abnormality	5216	PFN1	ORPHA:803
HP:0002011	Morphological central nervous system abnormality	9782	MATR3	ORPHA:803
HP:0002011	Morphological central nervous system abnormality	283	ANG	ORPHA:803
HP:0002011	Morphological central nervous system abnormality	29978	UBQLN2	ORPHA:803
HP:0002011	Morphological central nervous system abnormality	2733	GLE1	ORPHA:803
HP:0002011	Morphological central nervous system abnormality	1610	DAO	ORPHA:803
HP:0002011	Morphological central nervous system abnormality	2066	ERBB4	ORPHA:803
HP:0002011	Morphological central nervous system abnormality	311	ANXA11	ORPHA:803
HP:0002011	Morphological central nervous system abnormality	23025	UNC13A	ORPHA:803
HP:0002011	Morphological central nervous system abnormality	899	CCNF	ORPHA:803
HP:0002011	Morphological central nervous system abnormality	27235	COQ2	OMIM:146500
HP:0002011	Morphological central nervous system abnormality	5111	PCNA	OMIM:615919
HP:0002011	Morphological central nervous system abnormality	5111	PCNA	ORPHA:438134
HP:0002011	Morphological central nervous system abnormality	2760	GM2A	ORPHA:309246
HP:0002011	Morphological central nervous system abnormality	2760	GM2A	OMIM:272750
HP:0002011	Morphological central nervous system abnormality	83636	C19orf12	OMIM:614298
HP:0002011	Morphological central nervous system abnormality	2348	FOLR1	OMIM:613068
HP:0002011	Morphological central nervous system abnormality	80347	COASY	OMIM:615643
HP:0002011	Morphological central nervous system abnormality	57505	AARS2	OMIM:615889
HP:0002011	Morphological central nervous system abnormality	79731	NARS2	OMIM:616239
HP:0002011	Morphological central nervous system abnormality	256471	MFSD8	OMIM:610951
HP:0002011	Morphological central nervous system abnormality	1130	LYST	OMIM:214500
HP:0002011	Morphological central nervous system abnormality	79152	FA2H	OMIM:612319
HP:0002011	Morphological central nervous system abnormality	8883	NAE1	OMIM:620210
HP:0002011	Morphological central nervous system abnormality	3028	HSD17B10	ORPHA:391428
HP:0002011	Morphological central nervous system abnormality	34	ACADM	OMIM:201450
HP:0002011	Morphological central nervous system abnormality	593	BCKDHA	OMIM:248600
HP:0002011	Morphological central nervous system abnormality	10165	SLC25A13	ORPHA:247585
HP:0002011	Morphological central nervous system abnormality	10165	SLC25A13	OMIM:603471
HP:0002011	Morphological central nervous system abnormality	708	C1QBP	OMIM:617713
HP:0002011	Morphological central nervous system abnormality	10577	NPC2	OMIM:607625
HP:0002011	Morphological central nervous system abnormality	9445	ITM2B	OMIM:117300
HP:0002011	Morphological central nervous system abnormality	199857	ALG14	OMIM:619031
HP:0002011	Morphological central nervous system abnormality	199857	ALG14	OMIM:619036
HP:0002011	Morphological central nervous system abnormality	8367	H4C5	OMIM:619950
HP:0002011	Morphological central nervous system abnormality	104	ADARB1	OMIM:618862
HP:0002011	Morphological central nervous system abnormality	375	ARF1	OMIM:618185
HP:0002011	Morphological central nervous system abnormality	23417	MLYCD	OMIM:248360
HP:0002011	Morphological central nervous system abnormality	347734	SLC35B2	OMIM:620269
HP:0002011	Morphological central nervous system abnormality	81570	CLPB	OMIM:619835
HP:0002011	Morphological central nervous system abnormality	51506	UFC1	OMIM:618076
HP:0002011	Morphological central nervous system abnormality	387787	LIPT2	OMIM:617668
HP:0002011	Morphological central nervous system abnormality	57465	TBC1D24	ORPHA:352596
HP:0002011	Morphological central nervous system abnormality	4010	LMX1B	ORPHA:495818
HP:0002011	Morphological central nervous system abnormality	6812	STXBP1	ORPHA:495818
HP:0002011	Morphological central nervous system abnormality	6812	STXBP1	OMIM:612164
HP:0002011	Morphological central nervous system abnormality	375387	NRROS	OMIM:618875
HP:0002011	Morphological central nervous system abnormality	80055	PGAP1	OMIM:615802
HP:0002011	Morphological central nervous system abnormality	5610	EIF2AK2	OMIM:618877
HP:0002011	Morphological central nervous system abnormality	3781	KCNN2	OMIM:619725
HP:0002011	Morphological central nervous system abnormality	7175	TPR	OMIM:620393
HP:0002011	Morphological central nervous system abnormality	57492	ARID1B	OMIM:135900
HP:0002011	Morphological central nervous system abnormality	55870	ASH1L	OMIM:617796
HP:0002011	Morphological central nervous system abnormality	7528	YY1	OMIM:617557
HP:0002011	Morphological central nervous system abnormality	6573	SLC19A1	OMIM:620603
HP:0002011	Morphological central nervous system abnormality	5191	PEX7	OMIM:215100
HP:0002011	Morphological central nervous system abnormality	1656	DDX6	OMIM:618653
HP:0002011	Morphological central nervous system abnormality	55703	POLR3B	OMIM:619742
HP:0002011	Morphological central nervous system abnormality	497661	C18orf32	OMIM:619985
HP:0002011	Morphological central nervous system abnormality	833	CARS1	OMIM:618891
HP:0002011	Morphological central nervous system abnormality	57178	ZMIZ1	OMIM:618659
HP:0002011	Morphological central nervous system abnormality	2783	GNB2	OMIM:619503
HP:0002011	Morphological central nervous system abnormality	25942	SIN3A	OMIM:613406
HP:0002011	Morphological central nervous system abnormality	7915	ALDH5A1	OMIM:271980
HP:0002011	Morphological central nervous system abnormality	9653	HS2ST1	OMIM:619194
HP:0002011	Morphological central nervous system abnormality	55768	NGLY1	OMIM:615273
HP:0002011	Morphological central nervous system abnormality	54914	FOCAD	OMIM:619991
HP:0002011	Morphological central nervous system abnormality	116115	ZNF526	OMIM:619877
HP:0002011	Morphological central nervous system abnormality	4191	MDH2	OMIM:617339
HP:0002011	Morphological central nervous system abnormality	6609	SMPD1	OMIM:257200
HP:0002011	Morphological central nervous system abnormality	728294	D2HGDH	OMIM:600721
HP:0002011	Morphological central nervous system abnormality	7358	UGDH	OMIM:618792
HP:0002011	Morphological central nervous system abnormality	4849	CNOT3	OMIM:618672
HP:0002011	Morphological central nervous system abnormality	9440	MED17	OMIM:613668
HP:0002011	Morphological central nervous system abnormality	10430	TMEM147	OMIM:620075
HP:0002011	Morphological central nervous system abnormality	7143	TNR	OMIM:619653
HP:0002011	Morphological central nervous system abnormality	197258	FCSK	OMIM:618324
HP:0002011	Morphological central nervous system abnormality	85365	ALG2	OMIM:607906
HP:0002011	Morphological central nervous system abnormality	3798	KIF5A	OMIM:617235
HP:0002011	Morphological central nervous system abnormality	27086	FOXP1	OMIM:613670
HP:0002011	Morphological central nervous system abnormality	8218	CLTCL1	ORPHA:453510
HP:0002011	Morphological central nervous system abnormality	9725	TMEM63A	OMIM:618688
HP:0002011	Morphological central nervous system abnormality	2146	EZH2	OMIM:277590
HP:0002011	Morphological central nervous system abnormality	84978	FRMD5	OMIM:620094
HP:0002011	Morphological central nervous system abnormality	404672	GTF2H5	OMIM:616395
HP:0002011	Morphological central nervous system abnormality	10159	ATP6AP2	OMIM:300423
HP:0002011	Morphological central nervous system abnormality	7040	TGFB1	OMIM:618213
HP:0002011	Morphological central nervous system abnormality	58497	PRUNE1	OMIM:617481
HP:0002011	Morphological central nervous system abnormality	51693	TRAPPC2L	OMIM:618331
HP:0002011	Morphological central nervous system abnormality	84188	FAR1	OMIM:616154
HP:0002011	Morphological central nervous system abnormality	27133	KCNH5	OMIM:620537
HP:0002011	Morphological central nervous system abnormality	22907	DHX30	OMIM:617804
HP:0002011	Morphological central nervous system abnormality	11338	U2AF2	OMIM:620535
HP:0002011	Morphological central nervous system abnormality	5910	RAP1GDS1	OMIM:620655
HP:0002011	Morphological central nervous system abnormality	2744	GLS	OMIM:618339
HP:0002011	Morphological central nervous system abnormality	81603	TRIM8	OMIM:619428
HP:0002011	Morphological central nervous system abnormality	339453	TMEM240	OMIM:607454
HP:0002011	Morphological central nervous system abnormality	9230	RAB11B	OMIM:617807
HP:0002011	Morphological central nervous system abnormality	30000	TNPO2	OMIM:619556
HP:0002011	Morphological central nervous system abnormality	83548	COG3	OMIM:620546
HP:0002011	Morphological central nervous system abnormality	85358	SHANK3	OMIM:606232
HP:0002011	Morphological central nervous system abnormality	7707	ZNF148	OMIM:617260
HP:0002011	Morphological central nervous system abnormality	5515	PPP2CA	OMIM:618354
HP:0002011	Morphological central nervous system abnormality	51601	LIPT1	OMIM:616299
HP:0002011	Morphological central nervous system abnormality	10588	MTHFS	OMIM:618367
HP:0002011	Morphological central nervous system abnormality	23221	RHOBTB2	OMIM:618004
HP:0002011	Morphological central nervous system abnormality	112939	NACC1	OMIM:617393
HP:0002011	Morphological central nervous system abnormality	23511	NUP188	OMIM:618804
HP:0002011	Morphological central nervous system abnormality	26007	TKFC	OMIM:618805
HP:0002011	Morphological central nervous system abnormality	4358	MPV17	OMIM:256810
HP:0002011	Morphological central nervous system abnormality	3054	HCFC1	OMIM:309541
HP:0002011	Morphological central nervous system abnormality	3183	HNRNPC	OMIM:620688
HP:0002011	Morphological central nervous system abnormality	4594	MMUT	OMIM:251000
HP:0002011	Morphological central nervous system abnormality	11342	RNF13	OMIM:618379
HP:0002011	Morphological central nervous system abnormality	9758	FRMPD4	OMIM:300983
HP:0002011	Morphological central nervous system abnormality	4761	NEUROD2	OMIM:618374
HP:0002011	Morphological central nervous system abnormality	8943	AP3D1	OMIM:617050
HP:0002011	Morphological central nervous system abnormality	51095	TRNT1	OMIM:616084
HP:0002011	Morphological central nervous system abnormality	51501	HIKESHI	OMIM:616881
HP:0002011	Morphological central nervous system abnormality	57468	SLC12A5	OMIM:616645
HP:0002011	Morphological central nervous system abnormality	91461	PKDCC	OMIM:618821
HP:0002011	Morphological central nervous system abnormality	8452	CUL3	OMIM:619239
HP:0002011	Morphological central nervous system abnormality	4329	ALDH6A1	OMIM:614105
HP:0002011	Morphological central nervous system abnormality	51124	IER3IP1	OMIM:614231
HP:0002011	Morphological central nervous system abnormality	9739	SETD1A	OMIM:618832
HP:0002011	Morphological central nervous system abnormality	617	BCS1L	OMIM:124000
HP:0002011	Morphological central nervous system abnormality	95	ACY1	OMIM:609924
HP:0002011	Morphological central nervous system abnormality	6529	SLC6A1	OMIM:616421
HP:0002011	Morphological central nervous system abnormality	23154	NCDN	OMIM:619373
HP:0002011	Morphological central nervous system abnormality	5430	POLR2A	OMIM:618603
HP:0002011	Morphological central nervous system abnormality	81615	TMEM163	OMIM:620243
HP:0002011	Morphological central nervous system abnormality	9939	RBM8A	OMIM:274000
HP:0002011	Morphological central nervous system abnormality	124454	EARS2	OMIM:614924
HP:0002011	Morphological central nervous system abnormality	10079	ATP9A	OMIM:620242
HP:0002011	Morphological central nervous system abnormality	29928	TIMM22	OMIM:618851
HP:0002011	Morphological central nervous system abnormality	51733	UPB1	OMIM:613161
HP:0002011	Morphological central nervous system abnormality	57647	DHX37	OMIM:618731
HP:0002011	Morphological central nervous system abnormality	221692	PHACTR1	OMIM:618298
HP:0002011	Morphological central nervous system abnormality	27031	NPHP3	OMIM:267010
HP:0002011	Morphological central nervous system abnormality	128240	NAXE	OMIM:617186
HP:0002011	Morphological central nervous system abnormality	1593	CYP27A1	ORPHA:909
HP:0002011	Morphological central nervous system abnormality	22943	DKK1	ORPHA:268882
HP:0002011	Morphological central nervous system abnormality	5921	RASA1	ORPHA:90307
HP:0002011	Morphological central nervous system abnormality	686	BTD	ORPHA:79241
HP:0002011	Morphological central nervous system abnormality	4771	NF2	ORPHA:637
HP:0002011	Morphological central nervous system abnormality	79158	GNPTAB	OMIM:252500
HP:0002011	Morphological central nervous system abnormality	2911	GRM1	OMIM:614831
HP:0002011	Morphological central nervous system abnormality	9851	KIAA0753	ORPHA:475
HP:0002011	Morphological central nervous system abnormality	9851	KIAA0753	ORPHA:2754
HP:0002011	Morphological central nervous system abnormality	5147	PDE6D	ORPHA:475
HP:0002011	Morphological central nervous system abnormality	5147	PDE6D	ORPHA:2754
HP:0002011	Morphological central nervous system abnormality	79600	TCTN1	ORPHA:475
HP:0002011	Morphological central nervous system abnormality	79848	CSPP1	ORPHA:475
HP:0002011	Morphological central nervous system abnormality	51684	SUFU	ORPHA:475
HP:0002011	Morphological central nervous system abnormality	54806	AHI1	ORPHA:475
HP:0002011	Morphological central nervous system abnormality	153241	CEP120	ORPHA:475
HP:0002011	Morphological central nervous system abnormality	65250	CPLANE1	ORPHA:475
HP:0002011	Morphological central nervous system abnormality	65250	CPLANE1	ORPHA:2754
HP:0002011	Morphological central nervous system abnormality	91147	TMEM67	ORPHA:475
HP:0002011	Morphological central nervous system abnormality	91147	TMEM67	ORPHA:1454
HP:0002011	Morphological central nervous system abnormality	200894	ARL13B	ORPHA:475
HP:0002011	Morphological central nervous system abnormality	9731	CEP104	ORPHA:475
HP:0002011	Morphological central nervous system abnormality	219844	HYLS1	ORPHA:475
HP:0002011	Morphological central nervous system abnormality	23247	KATNIP	ORPHA:475
HP:0002011	Morphological central nervous system abnormality	219854	TMEM218	ORPHA:475
HP:0002011	Morphological central nervous system abnormality	54903	MKS1	ORPHA:475
HP:0002011	Morphological central nervous system abnormality	95681	CEP41	ORPHA:475
HP:0002011	Morphological central nervous system abnormality	9786	KIAA0586	ORPHA:475
HP:0002011	Morphological central nervous system abnormality	56623	INPP5E	ORPHA:475
HP:0002011	Morphological central nervous system abnormality	56623	INPP5E	ORPHA:1454
HP:0002011	Morphological central nervous system abnormality	26123	TCTN3	ORPHA:475
HP:0002011	Morphological central nervous system abnormality	26123	TCTN3	ORPHA:2754
HP:0002011	Morphological central nervous system abnormality	79867	TCTN2	ORPHA:475
HP:0002011	Morphological central nervous system abnormality	80776	B9D2	ORPHA:475
HP:0002011	Morphological central nervous system abnormality	10464	PIBF1	ORPHA:475
HP:0002011	Morphological central nervous system abnormality	80210	ARMC9	ORPHA:475
HP:0002011	Morphological central nervous system abnormality	23116	TOGARAM1	ORPHA:475
HP:0002011	Morphological central nervous system abnormality	25776	CBY1	ORPHA:475
HP:0002011	Morphological central nervous system abnormality	27077	B9D1	ORPHA:475
HP:0002011	Morphological central nervous system abnormality	403	ARL3	ORPHA:475
HP:0002011	Morphological central nervous system abnormality	80173	IFT74	ORPHA:475
HP:0002011	Morphological central nervous system abnormality	65062	TMEM237	ORPHA:475
HP:0002011	Morphological central nervous system abnormality	65062	TMEM237	ORPHA:2318
HP:0002011	Morphological central nervous system abnormality	284403	WDR62	OMIM:604317
HP:0002011	Morphological central nervous system abnormality	1376	CPT2	OMIM:608836
HP:0002011	Morphological central nervous system abnormality	1376	CPT2	ORPHA:228308
HP:0002011	Morphological central nervous system abnormality	3769	KCNJ13	ORPHA:65
HP:0002011	Morphological central nervous system abnormality	343035	RD3	ORPHA:65
HP:0002011	Morphological central nervous system abnormality	145226	RDH12	ORPHA:65
HP:0002011	Morphological central nervous system abnormality	1406	CRX	ORPHA:65
HP:0002011	Morphological central nervous system abnormality	64802	NMNAT1	ORPHA:65
HP:0002011	Morphological central nervous system abnormality	57096	RPGRIP1	ORPHA:65
HP:0002011	Morphological central nervous system abnormality	80184	CEP290	ORPHA:65
HP:0002011	Morphological central nervous system abnormality	80184	CEP290	ORPHA:2318
HP:0002011	Morphological central nervous system abnormality	10383	TUBB4B	ORPHA:65
HP:0002011	Morphological central nervous system abnormality	9742	IFT140	ORPHA:65
HP:0002011	Morphological central nervous system abnormality	85015	USP45	ORPHA:65
HP:0002011	Morphological central nervous system abnormality	6121	RPE65	ORPHA:65
HP:0002011	Morphological central nervous system abnormality	23418	CRB1	ORPHA:65
HP:0002011	Morphological central nervous system abnormality	5130	PCYT1A	ORPHA:65
HP:0002011	Morphological central nervous system abnormality	9657	IQCB1	ORPHA:65
HP:0002011	Morphological central nervous system abnormality	392255	GDF6	ORPHA:65
HP:0002011	Morphological central nervous system abnormality	23746	AIPL1	ORPHA:65
HP:0002011	Morphological central nervous system abnormality	3000	GUCY2D	ORPHA:65
HP:0002011	Morphological central nervous system abnormality	9227	LRAT	ORPHA:65
HP:0002011	Morphological central nervous system abnormality	55812	SPATA7	ORPHA:65
HP:0002011	Morphological central nervous system abnormality	7287	TULP1	ORPHA:65
HP:0002011	Morphological central nervous system abnormality	167691	LCA5	ORPHA:65
HP:0002011	Morphological central nervous system abnormality	3614	IMPDH1	ORPHA:65
HP:0002011	Morphological central nervous system abnormality	55670	PEX26	ORPHA:44
HP:0002011	Morphological central nervous system abnormality	5824	PEX19	ORPHA:44
HP:0002011	Morphological central nervous system abnormality	5828	PEX2	ORPHA:44
HP:0002011	Morphological central nervous system abnormality	8504	PEX3	ORPHA:44
HP:0002011	Morphological central nervous system abnormality	9409	PEX16	ORPHA:44
HP:0002011	Morphological central nervous system abnormality	5190	PEX6	ORPHA:44
HP:0002011	Morphological central nervous system abnormality	8799	PEX11B	ORPHA:44
HP:0002011	Morphological central nervous system abnormality	5830	PEX5	ORPHA:44
HP:0002011	Morphological central nervous system abnormality	5189	PEX1	ORPHA:44
HP:0002011	Morphological central nervous system abnormality	5193	PEX12	ORPHA:44
HP:0002011	Morphological central nervous system abnormality	5194	PEX13	ORPHA:44
HP:0002011	Morphological central nervous system abnormality	5195	PEX14	ORPHA:44
HP:0002011	Morphological central nervous system abnormality	5192	PEX10	ORPHA:44
HP:0002011	Morphological central nervous system abnormality	6197	RPS6KA3	ORPHA:192
HP:0002011	Morphological central nervous system abnormality	57187	THOC2	OMIM:300957
HP:0002011	Morphological central nervous system abnormality	5155	PDGFB	ORPHA:1980
HP:0002011	Morphological central nervous system abnormality	9213	XPR1	ORPHA:1980
HP:0002011	Morphological central nervous system abnormality	5159	PDGFRB	ORPHA:1980
HP:0002011	Morphological central nervous system abnormality	57462	MYORG	ORPHA:1980
HP:0002011	Morphological central nervous system abnormality	6575	SLC20A2	ORPHA:1980
HP:0002011	Morphological central nervous system abnormality	58494	JAM2	ORPHA:1980
HP:0002011	Morphological central nervous system abnormality	85378	TUBGCP6	ORPHA:2518
HP:0002011	Morphological central nervous system abnormality	27229	TUBGCP4	ORPHA:2518
HP:0002011	Morphological central nervous system abnormality	10733	PLK4	ORPHA:2518
HP:0002011	Morphological central nervous system abnormality	4683	NBN	ORPHA:647
HP:0002011	Morphological central nervous system abnormality	84942	WDR73	OMIM:251300
HP:0002011	Morphological central nervous system abnormality	84942	WDR73	ORPHA:2065
HP:0002011	Morphological central nervous system abnormality	9289	ADGRG1	ORPHA:98889
HP:0002011	Morphological central nervous system abnormality	5297	PI4KA	ORPHA:98889
HP:0002011	Morphological central nervous system abnormality	27286	SRPX2	ORPHA:98889
HP:0002011	Morphological central nervous system abnormality	2261	FGFR3	ORPHA:93274
HP:0002011	Morphological central nervous system abnormality	79583	TMEM231	ORPHA:2318
HP:0002011	Morphological central nervous system abnormality	79583	TMEM231	ORPHA:2754
HP:0002011	Morphological central nervous system abnormality	51524	TMEM138	ORPHA:2318
HP:0002011	Morphological central nervous system abnormality	23090	ZNF423	ORPHA:2318
HP:0002011	Morphological central nervous system abnormality	51259	TMEM216	ORPHA:2318
HP:0002011	Morphological central nervous system abnormality	51259	TMEM216	ORPHA:2754
HP:0002011	Morphological central nervous system abnormality	57545	CC2D2A	ORPHA:2318
HP:0002011	Morphological central nervous system abnormality	57545	CC2D2A	ORPHA:1454
HP:0002011	Morphological central nervous system abnormality	1859	DYRK1A	ORPHA:464311
HP:0002011	Morphological central nervous system abnormality	26047	CNTNAP2	ORPHA:163681
HP:0002011	Morphological central nervous system abnormality	28514	DLL1	OMIM:618709
HP:0002011	Morphological central nervous system abnormality	10210	TOPORS	ORPHA:2754
HP:0002011	Morphological central nervous system abnormality	317662	FAM149B1	ORPHA:2754
HP:0002011	Morphological central nervous system abnormality	374654	KIF7	ORPHA:2754
HP:0002011	Morphological central nervous system abnormality	9897	WASHC5	ORPHA:7
HP:0002011	Morphological central nervous system abnormality	28952	CCDC22	ORPHA:7
HP:0002011	Morphological central nervous system abnormality	57020	VPS35L	ORPHA:7
HP:0002011	Morphological central nervous system abnormality	56896	DPYSL5	ORPHA:7
HP:0002011	Morphological central nervous system abnormality	1718	DHCR24	ORPHA:35107
HP:0002011	Morphological central nervous system abnormality	2316	FLNA	OMIM:300049
HP:0002011	Morphological central nervous system abnormality	5649	RELN	ORPHA:89844
HP:0002011	Morphological central nervous system abnormality	10300	KATNB1	ORPHA:89844
HP:0002011	Morphological central nervous system abnormality	54820	NDE1	ORPHA:89844
HP:0002011	Morphological central nervous system abnormality	23322	RPGRIP1L	ORPHA:1454
HP:0002011	Morphological central nervous system abnormality	79693	YRDC	ORPHA:2065
HP:0002011	Morphological central nervous system abnormality	51002	TPRKB	ORPHA:2065
HP:0002011	Morphological central nervous system abnormality	55644	OSGEP	ORPHA:2065
HP:0002011	Morphological central nervous system abnormality	57122	NUP107	ORPHA:2065
HP:0002011	Morphological central nervous system abnormality	10785	WDR4	ORPHA:2065
HP:0002011	Morphological central nervous system abnormality	55746	NUP133	ORPHA:2065
HP:0002011	Morphological central nervous system abnormality	84520	GON7	ORPHA:2065
HP:0002011	Morphological central nervous system abnormality	112858	TP53RK	ORPHA:2065
HP:0002011	Morphological central nervous system abnormality	8270	LAGE3	ORPHA:2065
HP:0002011	Morphological central nervous system abnormality	55780	ERMARD	ORPHA:75857
HP:0002011	Morphological central nervous system abnormality	9215	LARGE1	OMIM:608840
HP:0002011	Morphological central nervous system abnormality	9215	LARGE1	ORPHA:899
HP:0002011	Morphological central nervous system abnormality	84892	POMGNT2	ORPHA:899
HP:0002011	Morphological central nervous system abnormality	148789	B3GALNT2	ORPHA:899
HP:0002011	Morphological central nervous system abnormality	79147	FKRP	ORPHA:899
HP:0002011	Morphological central nervous system abnormality	29954	POMT2	ORPHA:899
HP:0002011	Morphological central nervous system abnormality	1282	COL4A1	ORPHA:899
HP:0002011	Morphological central nervous system abnormality	729920	CRPPA	ORPHA:899
HP:0002011	Morphological central nervous system abnormality	10329	RXYLT1	ORPHA:899
HP:0002011	Morphological central nervous system abnormality	1605	DAG1	ORPHA:899
HP:0002011	Morphological central nervous system abnormality	11041	B4GAT1	ORPHA:899
HP:0002011	Morphological central nervous system abnormality	10585	POMT1	ORPHA:899
HP:0002011	Morphological central nervous system abnormality	84197	POMK	ORPHA:899
HP:0002011	Morphological central nervous system abnormality	2218	FKTN	ORPHA:899
HP:0002011	Morphological central nervous system abnormality	55624	POMGNT1	ORPHA:899
HP:0002011	Morphological central nervous system abnormality	3912	LAMB1	OMIM:615191
HP:0002011	Morphological central nervous system abnormality	3912	LAMB1	ORPHA:352682
HP:0002011	Morphological central nervous system abnormality	29899	GPSM2	OMIM:604213
HP:0002011	Morphological central nervous system abnormality	23013	SPEN	OMIM:619312
HP:0002011	Morphological central nervous system abnormality	100151683	RNU4ATAC	OMIM:210710
HP:0002011	Morphological central nervous system abnormality	29957	SLC25A24	OMIM:612289
HP:0002011	Morphological central nervous system abnormality	57282	SLC4A10	OMIM:620746
HP:0002011	Morphological central nervous system abnormality	4659	PPP1R12A	OMIM:618820
HP:0002011	Morphological central nervous system abnormality	8496	PPFIBP1	OMIM:620024
HP:0002011	Morphological central nervous system abnormality	3190	HNRNPK	ORPHA:453504
HP:0002011	Morphological central nervous system abnormality	3190	HNRNPK	ORPHA:352665
HP:0002011	Morphological central nervous system abnormality	440138	ALG11	ORPHA:280071
HP:0002011	Morphological central nervous system abnormality	253959	RALGAPA1	OMIM:618797
HP:0002011	Morphological central nervous system abnormality	84162	BLTP1	OMIM:617822
HP:0002011	Morphological central nervous system abnormality	284217	LAMA1	OMIM:615960
HP:0002011	Morphological central nervous system abnormality	79633	FAT4	ORPHA:314679
HP:0002011	Morphological central nervous system abnormality	79633	FAT4	OMIM:615546
HP:0002011	Morphological central nervous system abnormality	8642	DCHS1	ORPHA:314679
HP:0002011	Morphological central nervous system abnormality	8642	DCHS1	OMIM:601390
HP:0002011	Morphological central nervous system abnormality	5048	PAFAH1B1	OMIM:607432
HP:0002011	Morphological central nervous system abnormality	9968	MED12	OMIM:305450
HP:0002011	Morphological central nervous system abnormality	2475	MTOR	ORPHA:99802
HP:0002011	Morphological central nervous system abnormality	10000	AKT3	ORPHA:99802
HP:0002011	Morphological central nervous system abnormality	7846	TUBA1A	OMIM:611603
HP:0002011	Morphological central nervous system abnormality	60	ACTB	OMIM:620475
HP:0002011	Morphological central nervous system abnormality	57688	ZSWIM6	OMIM:603671
HP:0002011	Morphological central nervous system abnormality	4131	MAP1B	OMIM:618918
HP:0002011	Morphological central nervous system abnormality	57724	EPG5	OMIM:242840
HP:0002011	Morphological central nervous system abnormality	57724	EPG5	ORPHA:1493
HP:0002011	Morphological central nervous system abnormality	23007	PLCH1	OMIM:619895
HP:0002011	Morphological central nervous system abnormality	4123	MAN2C1	OMIM:619775
HP:0002011	Morphological central nervous system abnormality	347733	TUBB2B	ORPHA:300573
HP:0002011	Morphological central nervous system abnormality	92255	LMBRD2	OMIM:619694
HP:0002011	Morphological central nervous system abnormality	11274	USP18	OMIM:617397
HP:0002011	Morphological central nervous system abnormality	2678	GGT1	OMIM:231950
HP:0002011	Morphological central nervous system abnormality	3796	KIF2A	OMIM:615411
HP:0002011	Morphological central nervous system abnormality	8777	MPDZ	OMIM:615219
HP:0002011	Morphological central nervous system abnormality	4292	MLH1	OMIM:276300
HP:0002011	Morphological central nervous system abnormality	9276	COPB2	ORPHA:2512
HP:0002011	Morphological central nervous system abnormality	11113	CIT	ORPHA:2512
HP:0002011	Morphological central nervous system abnormality	9928	KIF14	ORPHA:2512
HP:0002011	Morphological central nervous system abnormality	22995	CEP152	ORPHA:2512
HP:0002011	Morphological central nervous system abnormality	55262	TRAPPC14	ORPHA:2512
HP:0002011	Morphological central nervous system abnormality	163786	SASS6	ORPHA:2512
HP:0002011	Morphological central nervous system abnormality	29920	PYCR2	ORPHA:2512
HP:0002011	Morphological central nervous system abnormality	84879	MFSD2A	ORPHA:2512
HP:0002011	Morphological central nervous system abnormality	4176	MCM7	ORPHA:2512
HP:0002011	Morphological central nervous system abnormality	80254	CEP63	ORPHA:2512
HP:0002011	Morphological central nervous system abnormality	29081	METTL5	ORPHA:2512
HP:0002011	Morphological central nervous system abnormality	79023	NUP37	ORPHA:2512
HP:0002011	Morphological central nervous system abnormality	23310	NCAPD3	ORPHA:2512
HP:0002011	Morphological central nervous system abnormality	6301	SARS1	ORPHA:2512
HP:0002011	Morphological central nervous system abnormality	55755	CDK5RAP2	ORPHA:2512
HP:0002011	Morphological central nervous system abnormality	79648	MCPH1	ORPHA:2512
HP:0002011	Morphological central nervous system abnormality	6491	STIL	ORPHA:2512
HP:0002011	Morphological central nervous system abnormality	23141	ANKLE2	ORPHA:2512
HP:0002011	Morphological central nervous system abnormality	259266	ASPM	ORPHA:2512
HP:0002011	Morphological central nervous system abnormality	7109	TRAPPC10	ORPHA:2512
HP:0002011	Morphological central nervous system abnormality	7453	WARS1	ORPHA:2512
HP:0002011	Morphological central nervous system abnormality	1911	PHC1	ORPHA:2512
HP:0002011	Morphological central nervous system abnormality	1062	CENPE	ORPHA:2512
HP:0002011	Morphological central nervous system abnormality	6884	TAF13	ORPHA:2512
HP:0002011	Morphological central nervous system abnormality	9662	CEP135	ORPHA:2512
HP:0002011	Morphological central nervous system abnormality	57082	KNL1	ORPHA:2512
HP:0002011	Morphological central nervous system abnormality	1021	CDK6	ORPHA:2512
HP:0002011	Morphological central nervous system abnormality	286204	CRB2	OMIM:219730
HP:0002011	Morphological central nervous system abnormality	1641	DCX	OMIM:300067
HP:0002011	Morphological central nervous system abnormality	171023	ASXL1	OMIM:605039
HP:0002011	Morphological central nervous system abnormality	2009	EML1	OMIM:600348
HP:0002011	Morphological central nervous system abnormality	23327	NEDD4L	OMIM:617201
HP:0002011	Morphological central nervous system abnormality	84314	TMEM107	OMIM:617563
HP:0002011	Morphological central nervous system abnormality	5395	PMS2	OMIM:619101
HP:0002011	Morphological central nervous system abnormality	120	ADD3	OMIM:617008
HP:0002011	Morphological central nervous system abnormality	5908	RAP1B	OMIM:620654
HP:0002011	Morphological central nervous system abnormality	26834	RNU4-2	OMIM:620851
HP:0002011	Morphological central nervous system abnormality	435	ASL	ORPHA:23
HP:0002011	Morphological central nervous system abnormality	1798	DPAGT1	ORPHA:86309
HP:0002011	Morphological central nervous system abnormality	51604	PIGT	ORPHA:369837
HP:0002011	Morphological central nervous system abnormality	56006	SMG9	OMIM:616920
HP:0002011	Morphological central nervous system abnormality	25782	RAB3GAP2	OMIM:614225
HP:0002011	Morphological central nervous system abnormality	9255	AIMP1	OMIM:260600
HP:0002011	Morphological central nervous system abnormality	85476	GFM1	OMIM:609060
HP:0002011	Morphological central nervous system abnormality	285175	UNC80	OMIM:616801
HP:0002011	Morphological central nervous system abnormality	90624	LYRM7	OMIM:615838
HP:0002011	Morphological central nervous system abnormality	55775	TDP1	ORPHA:94124
HP:0002011	Morphological central nervous system abnormality	79796	ALG9	OMIM:608776
HP:0002011	Morphological central nervous system abnormality	2521	FUS	ORPHA:275872
HP:0002011	Morphological central nervous system abnormality	8878	SQSTM1	ORPHA:275872
HP:0002011	Morphological central nervous system abnormality	7415	VCP	ORPHA:275872
HP:0002011	Morphological central nervous system abnormality	23435	TARDBP	ORPHA:275872
HP:0002011	Morphological central nervous system abnormality	400916	CHCHD10	ORPHA:275872
HP:0002011	Morphological central nervous system abnormality	6335	SCN9A	ORPHA:33069
HP:0002011	Morphological central nervous system abnormality	6326	SCN2A	ORPHA:33069
HP:0002011	Morphological central nervous system abnormality	6326	SCN2A	OMIM:613721
HP:0002011	Morphological central nervous system abnormality	2554	GABRA1	ORPHA:33069
HP:0002011	Morphological central nervous system abnormality	6324	SCN1B	ORPHA:33069
HP:0002011	Morphological central nervous system abnormality	57526	PCDH19	ORPHA:33069
HP:0002011	Morphological central nervous system abnormality	2566	GABRG2	ORPHA:33069
HP:0002011	Morphological central nervous system abnormality	1528	CYB5A	ORPHA:621
HP:0002011	Morphological central nervous system abnormality	1727	CYB5R3	ORPHA:621
HP:0002011	Morphological central nervous system abnormality	170302	ARX	OMIM:308350
HP:0002011	Morphological central nervous system abnormality	83475	DOHH	OMIM:620066
HP:0002011	Morphological central nervous system abnormality	80025	PANK2	OMIM:234200
HP:0002011	Morphological central nervous system abnormality	51412	ACTL6B	OMIM:618470
HP:0002011	Morphological central nervous system abnormality	25828	TXN2	ORPHA:478029
HP:0002011	Morphological central nervous system abnormality	25828	TXN2	OMIM:616811
HP:0002011	Morphological central nervous system abnormality	23287	AGTPBP1	OMIM:618276
HP:0002011	Morphological central nervous system abnormality	790	CAD	OMIM:616457
HP:0002011	Morphological central nervous system abnormality	2782	GNB1	OMIM:616973
HP:0002011	Morphological central nervous system abnormality	55163	PNPO	ORPHA:79096
HP:0002011	Morphological central nervous system abnormality	8869	ST3GAL5	OMIM:609056
HP:0002011	Morphological central nervous system abnormality	1540	CYLD	OMIM:619132
HP:0002011	Morphological central nervous system abnormality	1315	COPB1	OMIM:619255
HP:0002011	Morphological central nervous system abnormality	10352	WARS2	OMIM:619738
HP:0002011	Morphological central nervous system abnormality	2074	ERCC6	OMIM:278800
HP:0002011	Morphological central nervous system abnormality	128989	TANGO2	ORPHA:480864
HP:0002011	Morphological central nervous system abnormality	1678	TIMM8A	ORPHA:52368
HP:0002011	Morphological central nervous system abnormality	8803	SUCLA2	OMIM:612073
HP:0002011	Morphological central nervous system abnormality	79587	CARS2	OMIM:616672
HP:0002011	Morphological central nervous system abnormality	7407	VARS1	OMIM:617802
HP:0002011	Morphological central nervous system abnormality	6304	SATB1	OMIM:619229
HP:0002011	Morphological central nervous system abnormality	27010	TPK1	OMIM:614458
HP:0002011	Morphological central nervous system abnormality	10695	CNPY3	OMIM:617929
HP:0002011	Morphological central nervous system abnormality	6622	SNCA	OMIM:168601
HP:0002011	Morphological central nervous system abnormality	5745	PTH1R	OMIM:600002
HP:0002011	Morphological central nervous system abnormality	6683	SPAST	OMIM:182601
HP:0002011	Morphological central nervous system abnormality	51062	ATL1	OMIM:182600
HP:0002011	Morphological central nervous system abnormality	2720	GLB1	OMIM:253010
HP:0002011	Morphological central nervous system abnormality	2588	GALNS	OMIM:253000
HP:0002011	Morphological central nervous system abnormality	81788	NUAK2	OMIM:619452
HP:0002011	Morphological central nervous system abnormality	3239	HOXD13	ORPHA:887
HP:0002011	Morphological central nervous system abnormality	7066	THPO	ORPHA:71493
HP:0002011	Morphological central nervous system abnormality	1311	COMP	OMIM:177170
HP:0002011	Morphological central nervous system abnormality	139886	SPIN4	OMIM:301114
HP:0002011	Morphological central nervous system abnormality	80217	CFAP43	OMIM:236690
HP:0002011	Morphological central nervous system abnormality	6329	SCN4A	OMIM:620351
HP:0002011	Morphological central nervous system abnormality	65260	COA7	OMIM:618387
HP:0002011	Morphological central nervous system abnormality	644096	SDHAF1	OMIM:619166
HP:0002011	Morphological central nervous system abnormality	4780	NFE2L2	OMIM:617744
HP:0002011	Morphological central nervous system abnormality	8891	EIF2B3	OMIM:620313
HP:0002011	Morphological central nervous system abnormality	8892	EIF2B2	OMIM:620312
HP:0002011	Morphological central nervous system abnormality	25913	POT1	OMIM:620368
HP:0002011	Morphological central nervous system abnormality	6389	SDHA	OMIM:252011
HP:0002011	Morphological central nervous system abnormality	6342	SCP2	OMIM:613724
HP:0002011	Morphological central nervous system abnormality	8050	PDHX	ORPHA:255182
HP:0002011	Morphological central nervous system abnormality	2332	FMR1	ORPHA:93256
HP:0002011	Morphological central nervous system abnormality	22	ABCB7	OMIM:301310
HP:0002011	Morphological central nervous system abnormality	5903	RANBP2	ORPHA:88619
HP:0002011	Morphological central nervous system abnormality	2562	GABRB3	ORPHA:2382
HP:0002011	Morphological central nervous system abnormality	5602	MAPK10	ORPHA:2382
HP:0002011	Morphological central nervous system abnormality	23316	CUX2	ORPHA:2382
HP:0002011	Morphological central nervous system abnormality	1106	CHD2	ORPHA:2382
HP:0002011	Morphological central nervous system abnormality	10978	CLP1	ORPHA:411493
HP:0002011	Morphological central nervous system abnormality	55901	THSD1	ORPHA:231160
HP:0002011	Morphological central nervous system abnormality	7049	TGFBR3	ORPHA:231160
HP:0002011	Morphological central nervous system abnormality	1281	COL3A1	ORPHA:231160
HP:0002011	Morphological central nervous system abnormality	83854	ANGPTL6	ORPHA:231160
HP:0002011	Morphological central nervous system abnormality	4621	MYH3	OMIM:193700
HP:0002011	Morphological central nervous system abnormality	203068	TUBB	OMIM:615771
HP:0002011	Morphological central nervous system abnormality	1778	DYNC1H1	OMIM:614563
HP:0002011	Morphological central nervous system abnormality	111	ADCY5	OMIM:619651
HP:0002011	Morphological central nervous system abnormality	6772	STAT1	ORPHA:391487
HP:0002011	Morphological central nervous system abnormality	4261	CIITA	OMIM:209920
HP:0002011	Morphological central nervous system abnormality	8517	IKBKG	ORPHA:464
HP:0002011	Morphological central nervous system abnormality	8915	BCL10	OMIM:616098
HP:0002011	Morphological central nervous system abnormality	54968	TMEM70	ORPHA:1194
HP:0002011	Morphological central nervous system abnormality	3930	LBR	ORPHA:779
HP:0002011	Morphological central nervous system abnormality	340024	SLC6A19	ORPHA:2116
HP:0002011	Morphological central nervous system abnormality	57393	CLTRN	ORPHA:2116
HP:0002011	Morphological central nervous system abnormality	546	ATRX	ORPHA:847
HP:0002011	Morphological central nervous system abnormality	8815	BANF1	OMIM:614008
HP:0002011	Morphological central nervous system abnormality	55969	RAB5IF	OMIM:616994
HP:0002011	Morphological central nervous system abnormality	94	ACVRL1	OMIM:600376
HP:0002011	Morphological central nervous system abnormality	2022	ENG	OMIM:187300
HP:0002011	Morphological central nervous system abnormality	7317	UBA1	OMIM:301830
HP:0002011	Morphological central nervous system abnormality	7317	UBA1	ORPHA:1145
HP:0002011	Morphological central nervous system abnormality	57562	CEP126	ORPHA:65684
HP:0002011	Morphological central nervous system abnormality	6606	SMN1	OMIM:253550
HP:0002011	Morphological central nervous system abnormality	6606	SMN1	OMIM:271150
HP:0002011	Morphological central nervous system abnormality	6606	SMN1	OMIM:253400
HP:0002011	Morphological central nervous system abnormality	10342	TFG	OMIM:604484
HP:0002011	Morphological central nervous system abnormality	3508	IGHMBP2	OMIM:604320
HP:0002011	Morphological central nervous system abnormality	6607	SMN2	OMIM:253400
HP:0002011	Morphological central nervous system abnormality	4511	MT-TC	OMIM:540000
HP:0002011	Morphological central nervous system abnormality	54344	DPM3	ORPHA:263494
HP:0002011	Morphological central nervous system abnormality	23600	AMACR	ORPHA:79095
HP:0002011	Morphological central nervous system abnormality	3569	IL6	OMIM:108010
HP:0002011	Morphological central nervous system abnormality	91754	NEK9	ORPHA:64754
HP:0002011	Morphological central nervous system abnormality	11198	SUPT16H	OMIM:619480
HP:0002011	Morphological central nervous system abnormality	23524	SRRM2	OMIM:620439
HP:0002011	Morphological central nervous system abnormality	30008	EFEMP2	OMIM:614437
HP:0002011	Morphological central nervous system abnormality	9573	GDF3	ORPHA:2345
HP:0002011	Morphological central nervous system abnormality	4222	MEOX1	ORPHA:2345
HP:0002011	Morphological central nervous system abnormality	29968	PSAT1	OMIM:616038
HP:0002011	Morphological central nervous system abnormality	55521	TRIM36	OMIM:206500
HP:0002011	Morphological central nervous system abnormality	60386	SLC25A19	ORPHA:99742
HP:0002011	Morphological central nervous system abnormality	3735	KARS1	OMIM:619196
HP:0002011	Morphological central nervous system abnormality	5091	PC	OMIM:266150
HP:0002011	Morphological central nervous system abnormality	25915	NDUFAF3	ORPHA:2609
HP:0002011	Morphological central nervous system abnormality	51103	NDUFAF1	ORPHA:2609
HP:0002011	Morphological central nervous system abnormality	91942	NDUFAF2	ORPHA:2609
HP:0002011	Morphological central nervous system abnormality	51300	TIMMDC1	ORPHA:2609
HP:0002011	Morphological central nervous system abnormality	4716	NDUFB10	ORPHA:2609
HP:0002011	Morphological central nervous system abnormality	55572	FOXRED1	ORPHA:2609
HP:0002011	Morphological central nervous system abnormality	284184	NDUFAF8	ORPHA:2609
HP:0002011	Morphological central nervous system abnormality	55863	TMEM126B	ORPHA:2609
HP:0002011	Morphological central nervous system abnormality	4537	MT-ND3	ORPHA:2609
HP:0002011	Morphological central nervous system abnormality	4694	NDUFA1	ORPHA:2609
HP:0002011	Morphological central nervous system abnormality	4724	NDUFS4	ORPHA:2609
HP:0002011	Morphological central nervous system abnormality	4724	NDUFS4	OMIM:252010
HP:0002011	Morphological central nervous system abnormality	4726	NDUFS6	ORPHA:2609
HP:0002011	Morphological central nervous system abnormality	4728	NDUFS8	ORPHA:2609
HP:0002011	Morphological central nervous system abnormality	4722	NDUFS3	ORPHA:2609
HP:0002011	Morphological central nervous system abnormality	79133	NDUFAF5	ORPHA:2609
HP:0002011	Morphological central nervous system abnormality	4709	NDUFB3	ORPHA:2609
HP:0002011	Morphological central nervous system abnormality	80224	NUBPL	ORPHA:2609
HP:0002011	Morphological central nervous system abnormality	80224	NUBPL	OMIM:618242
HP:0002011	Morphological central nervous system abnormality	29078	NDUFAF4	ORPHA:2609
HP:0002011	Morphological central nervous system abnormality	374291	NDUFS7	ORPHA:2609
HP:0002011	Morphological central nervous system abnormality	4700	NDUFA6	ORPHA:2609
HP:0002011	Morphological central nervous system abnormality	4536	MT-ND2	ORPHA:2609
HP:0002011	Morphological central nervous system abnormality	4715	NDUFB9	ORPHA:2609
HP:0002011	Morphological central nervous system abnormality	410	ARSA	ORPHA:309256
HP:0002011	Morphological central nervous system abnormality	410	ARSA	ORPHA:309271
HP:0002011	Morphological central nervous system abnormality	410	ARSA	ORPHA:309263
HP:0002011	Morphological central nervous system abnormality	11019	LIAS	OMIM:614462
HP:0002011	Morphological central nervous system abnormality	81689	ISCA1	OMIM:617613
HP:0002011	Morphological central nervous system abnormality	64857	PLEKHG2	OMIM:616763
HP:0002011	Morphological central nervous system abnormality	57165	GJC2	OMIM:608804
HP:0002011	Morphological central nervous system abnormality	9533	POLR1C	OMIM:616494
HP:0002011	Morphological central nervous system abnormality	122961	ISCA2	OMIM:616370
HP:0002011	Morphological central nervous system abnormality	1910	EDNRB	OMIM:277580
HP:0002011	Morphological central nervous system abnormality	7284	TUFM	OMIM:610678
HP:0002011	Morphological central nervous system abnormality	51	ACOX1	OMIM:264470
HP:0002011	Morphological central nervous system abnormality	1340	COX6B1	OMIM:619051
HP:0002011	Morphological central nervous system abnormality	56915	EXOSC5	OMIM:619576
HP:0002011	Morphological central nervous system abnormality	23250	ATP11A	OMIM:619851
HP:0002011	Morphological central nervous system abnormality	5917	RARS1	OMIM:616140
HP:0002011	Morphological central nervous system abnormality	727676	SNORD118	OMIM:614561
HP:0002011	Morphological central nervous system abnormality	200205	IBA57	OMIM:615330
HP:0002011	Morphological central nervous system abnormality	2058	EPRS1	OMIM:617951
HP:0002011	Morphological central nervous system abnormality	7965	AIMP2	OMIM:618006
HP:0002011	Morphological central nervous system abnormality	85021	REPS1	OMIM:617916
HP:0002011	Morphological central nervous system abnormality	3431	SP110	ORPHA:79124
HP:0002011	Morphological central nervous system abnormality	79053	ALG8	ORPHA:79325
HP:0002011	Morphological central nervous system abnormality	8789	FBP2	OMIM:619864
HP:0002011	Morphological central nervous system abnormality	18	ABAT	OMIM:613163
HP:0002011	Morphological central nervous system abnormality	55331	ACER3	OMIM:617762
HP:0002011	Morphological central nervous system abnormality	388962	BOLA3	OMIM:614299
HP:0002011	Morphological central nervous system abnormality	3329	HSPD1	OMIM:612233
HP:0002011	Morphological central nervous system abnormality	87178	PNPT1	OMIM:614932
HP:0002011	Morphological central nervous system abnormality	84668	HYCC1	OMIM:610532
HP:0002011	Morphological central nervous system abnormality	10382	TUBB4A	OMIM:612438
HP:0002011	Morphological central nervous system abnormality	84705	GTPBP3	ORPHA:444013
HP:0002011	Morphological central nervous system abnormality	10844	TUBGCP2	OMIM:618737
HP:0002011	Morphological central nervous system abnormality	5077	PAX3	ORPHA:894
HP:0002011	Morphological central nervous system abnormality	6309	SC5D	ORPHA:46059
HP:0002011	Morphological central nervous system abnormality	7476	WNT7A	ORPHA:2879
HP:0002011	Morphological central nervous system abnormality	134701	RIPPLY2	ORPHA:2311
HP:0002011	Morphological central nervous system abnormality	10683	DLL3	ORPHA:2311
HP:0002011	Morphological central nervous system abnormality	3955	LFNG	ORPHA:2311
HP:0002011	Morphological central nervous system abnormality	145873	MESP2	ORPHA:2311
HP:0002011	Morphological central nervous system abnormality	6628	SNRPB	ORPHA:1393
HP:0002011	Morphological central nervous system abnormality	57466	SCAF4	OMIM:620511
HP:0002011	Morphological central nervous system abnormality	318	NUDT2	OMIM:619844
HP:0002011	Morphological central nervous system abnormality	283120	H19	ORPHA:2128
HP:0002011	Morphological central nervous system abnormality	57128	LYRM4	OMIM:615595
HP:0002011	Morphological central nervous system abnormality	4570	MT-TN	OMIM:220110
HP:0002011	Morphological central nervous system abnormality	6834	SURF1	OMIM:220110
HP:0002011	Morphological central nervous system abnormality	4577	MT-TV	ORPHA:255210
HP:0002011	Morphological central nervous system abnormality	4566	MT-TK	ORPHA:255210
HP:0002011	Morphological central nervous system abnormality	56997	COQ8A	ORPHA:139485
HP:0002011	Morphological central nervous system abnormality	56997	COQ8A	OMIM:612016
HP:0002011	Morphological central nervous system abnormality	1352	COX10	OMIM:619046
HP:0002011	Morphological central nervous system abnormality	55967	NDUFA12	OMIM:618244
HP:0002011	Morphological central nervous system abnormality	116228	COX20	OMIM:619054
HP:0002011	Morphological central nervous system abnormality	4705	NDUFA10	OMIM:618243
HP:0002011	Morphological central nervous system abnormality	291	SLC25A4	OMIM:615418
HP:0002011	Morphological central nervous system abnormality	291	SLC25A4	OMIM:617184
HP:0002011	Morphological central nervous system abnormality	100303755	PET117	OMIM:619063
HP:0002011	Morphological central nervous system abnormality	4697	NDUFA4	OMIM:619065
HP:0002011	Morphological central nervous system abnormality	84300	UQCC2	OMIM:615824
HP:0002011	Morphological central nervous system abnormality	5888	RAD51	ORPHA:238722
HP:0002011	Morphological central nervous system abnormality	10126	DNAL4	ORPHA:238722
HP:0002011	Morphological central nervous system abnormality	9423	NTN1	ORPHA:238722
HP:0002011	Morphological central nervous system abnormality	1630	DCC	ORPHA:238722
HP:0002011	Morphological central nervous system abnormality	57679	ALS2	OMIM:607225
HP:0002011	Morphological central nervous system abnormality	55904	KMT2E	OMIM:618512
HP:0002011	Morphological central nervous system abnormality	6182	MRPL12	OMIM:618951
HP:0002011	Morphological central nervous system abnormality	57731	SPTBN4	OMIM:617519
HP:0002011	Morphological central nervous system abnormality	2705	GJB1	ORPHA:1175
HP:0002011	Morphological central nervous system abnormality	2729	GCLC	ORPHA:33574
HP:0002011	Morphological central nervous system abnormality	64601	VPS16	OMIM:619291
HP:0002011	Morphological central nervous system abnormality	7384	UQCRC1	OMIM:619279
HP:0002011	Morphological central nervous system abnormality	51473	DCDC2	ORPHA:84081
HP:0002011	Morphological central nervous system abnormality	22872	SEC31A	OMIM:618651
HP:0002011	Morphological central nervous system abnormality	5664	PSEN2	OMIM:606889
HP:0002011	Morphological central nervous system abnormality	348	APOE	OMIM:606889
HP:0002011	Morphological central nervous system abnormality	348	APOE	OMIM:607822
HP:0002011	Morphological central nervous system abnormality	348	APOE	OMIM:104310
HP:0002011	Morphological central nervous system abnormality	5663	PSEN1	OMIM:607822
HP:0002011	Morphological central nervous system abnormality	4353	MPO	OMIM:104300
HP:0002011	Morphological central nervous system abnormality	4846	NOS3	OMIM:104300
HP:0002011	Morphological central nervous system abnormality	5328	PLAU	OMIM:104300
HP:0002011	Morphological central nervous system abnormality	351	APP	OMIM:104300
HP:0002011	Morphological central nervous system abnormality	8913	CACNA1G	ORPHA:458803
HP:0002011	Morphological central nervous system abnormality	10347	ABCA7	OMIM:608907
HP:0002011	Morphological central nervous system abnormality	113235	SLC46A1	ORPHA:90045
HP:0002011	Morphological central nervous system abnormality	8671	SLC4A4	OMIM:604278
HP:0002011	Morphological central nervous system abnormality	3394	IRF8	OMIM:226990
HP:0002011	Morphological central nervous system abnormality	3117	HLA-DQA1	OMIM:212750
HP:0002011	Morphological central nervous system abnormality	760	CA2	ORPHA:2785
HP:0002011	Morphological central nervous system abnormality	760	CA2	OMIM:259730
HP:0002011	Morphological central nervous system abnormality	1893	ECM1	ORPHA:530
HP:0002011	Morphological central nervous system abnormality	4256	MGP	OMIM:245150
HP:0002011	Morphological central nervous system abnormality	9365	KL	OMIM:617994
HP:0002011	Morphological central nervous system abnormality	5741	PTH	OMIM:146200
HP:0002011	Morphological central nervous system abnormality	56160	NSMCE3	OMIM:617241
HP:0002011	Morphological central nervous system abnormality	79650	USB1	ORPHA:1775
HP:0002011	Morphological central nervous system abnormality	55135	WRAP53	ORPHA:1775
HP:0002011	Morphological central nervous system abnormality	4869	NPM1	ORPHA:1775
HP:0002011	Morphological central nervous system abnormality	1188	CLCNKB	ORPHA:358
HP:0002011	Morphological central nervous system abnormality	6559	SLC12A3	ORPHA:358
HP:0002011	Morphological central nervous system abnormality	79783	SUGCT	ORPHA:35706
HP:0002011	Morphological central nervous system abnormality	5274	SERPINI1	OMIM:604218
HP:0002011	Morphological central nervous system abnormality	9997	SCO2	OMIM:604377
HP:0002011	Morphological central nervous system abnormality	6904	TBCD	OMIM:617193
HP:0002011	Morphological central nervous system abnormality	10479	SLC9A6	ORPHA:85278
HP:0002011	Morphological central nervous system abnormality	10479	SLC9A6	OMIM:300243
HP:0002011	Morphological central nervous system abnormality	54832	VPS13C	OMIM:616840
HP:0002011	Morphological central nervous system abnormality	5173	PDYN	OMIM:610245
HP:0002011	Morphological central nervous system abnormality	1509	CTSD	OMIM:610127
HP:0002011	Morphological central nervous system abnormality	4864	NPC1	OMIM:257220
HP:0002011	Morphological central nervous system abnormality	203228	C9orf72	OMIM:105550
HP:0002011	Morphological central nervous system abnormality	2896	GRN	OMIM:607485
HP:0002011	Morphological central nervous system abnormality	26580	BSCL2	ORPHA:363400
HP:0002011	Morphological central nervous system abnormality	26580	BSCL2	OMIM:615924
HP:0002011	Morphological central nervous system abnormality	5277	PIGA	OMIM:300868
HP:0002011	Morphological central nervous system abnormality	8722	CTSF	OMIM:615362
HP:0002011	Morphological central nervous system abnormality	221927	BRAT1	OMIM:614498
HP:0002011	Morphological central nervous system abnormality	4287	ATXN3	OMIM:168600
HP:0002011	Morphological central nervous system abnormality	126	ADH1C	OMIM:168600
HP:0002011	Morphological central nervous system abnormality	4576	MT-TT	OMIM:168600
HP:0002011	Morphological central nervous system abnormality	9627	SNCAIP	OMIM:168600
HP:0002011	Morphological central nervous system abnormality	6908	TBP	OMIM:168600
HP:0002011	Morphological central nervous system abnormality	6908	TBP	ORPHA:98759
HP:0002011	Morphological central nervous system abnormality	6908	TBP	OMIM:607136
HP:0002011	Morphological central nervous system abnormality	4929	NR4A2	OMIM:168600
HP:0002011	Morphological central nervous system abnormality	57582	KCNT1	OMIM:614959
HP:0002011	Morphological central nervous system abnormality	3064	HTT	OMIM:143100
HP:0002011	Morphological central nervous system abnormality	8239	USP9X	ORPHA:480880
HP:0002011	Morphological central nervous system abnormality	8239	USP9X	OMIM:300968
HP:0002011	Morphological central nervous system abnormality	51008	ASCC1	OMIM:616867
HP:0002011	Morphological central nervous system abnormality	5457	POU4F1	ORPHA:314647
HP:0002011	Morphological central nervous system abnormality	23261	CAMTA1	ORPHA:314647
HP:0002011	Morphological central nervous system abnormality	80144	FRAS1	OMIM:219000
HP:0002011	Morphological central nervous system abnormality	2736	GLI2	OMIM:610829
HP:0002011	Morphological central nervous system abnormality	3908	LAMA2	OMIM:607855
HP:0002011	Morphological central nervous system abnormality	57511	COG6	OMIM:614576
HP:0002011	Morphological central nervous system abnormality	283989	TSEN54	ORPHA:2524
HP:0002011	Morphological central nervous system abnormality	116461	TSEN15	ORPHA:2524
HP:0002011	Morphological central nervous system abnormality	79042	TSEN34	ORPHA:2524
HP:0002011	Morphological central nervous system abnormality	80746	TSEN2	ORPHA:2524
HP:0002011	Morphological central nervous system abnormality	51091	SEPSECS	ORPHA:2524
HP:0002011	Morphological central nervous system abnormality	9373	PLAA	ORPHA:521426
HP:0002011	Morphological central nervous system abnormality	9373	PLAA	OMIM:617527
HP:0002011	Morphological central nervous system abnormality	11193	WBP4	OMIM:620852
HP:0002011	Morphological central nervous system abnormality	26227	PHGDH	ORPHA:79351
HP:0002011	Morphological central nervous system abnormality	4221	MEN1	ORPHA:652
HP:0002011	Morphological central nervous system abnormality	1027	CDKN1B	ORPHA:652
HP:0002011	Morphological central nervous system abnormality	1026	CDKN1A	ORPHA:652
HP:0002011	Morphological central nervous system abnormality	1030	CDKN2B	ORPHA:652
HP:0002011	Morphological central nervous system abnormality	1031	CDKN2C	ORPHA:652
HP:0002011	Morphological central nervous system abnormality	4913	NTHL1	ORPHA:454840
HP:0002011	Morphological central nervous system abnormality	4913	NTHL1	OMIM:616415
HP:0002011	Morphological central nervous system abnormality	8930	MBD4	OMIM:619975
HP:0002011	Morphological central nervous system abnormality	7486	WRN	ORPHA:902
HP:0002011	Morphological central nervous system abnormality	7486	WRN	OMIM:277700
HP:0002011	Morphological central nervous system abnormality	8665	EIF3F	OMIM:618295
HP:0002011	Morphological central nervous system abnormality	79798	ARMC5	ORPHA:189427
HP:0002011	Morphological central nervous system abnormality	23028	KDM1A	ORPHA:189427
HP:0002011	Morphological central nervous system abnormality	2033	EP300	ORPHA:353284
HP:0002011	Morphological central nervous system abnormality	4000	LMNA	ORPHA:79474
HP:0002011	Morphological central nervous system abnormality	4330	MN1	OMIM:607174
HP:0002011	Morphological central nervous system abnormality	23405	DICER1	OMIM:601200
HP:0002011	Morphological central nervous system abnormality	8518	ELP1	OMIM:155255
HP:0002011	Morphological central nervous system abnormality	2064	ERBB2	OMIM:137800
HP:0002011	Morphological central nervous system abnormality	6253	RTN2	ORPHA:100993
HP:0002011	Morphological central nervous system abnormality	51271	UBAP1	ORPHA:100993
HP:0002011	Morphological central nervous system abnormality	126129	CPT1C	ORPHA:444099
HP:0002011	Morphological central nervous system abnormality	3839	KPNA3	ORPHA:171612
HP:0002011	Morphological central nervous system abnormality	7084	TK2	ORPHA:254886
HP:0002011	Morphological central nervous system abnormality	5428	POLG	ORPHA:254886
HP:0002011	Morphological central nervous system abnormality	9197	SLC33A1	ORPHA:171863
HP:0002011	Morphological central nervous system abnormality	1786	DNMT1	ORPHA:314404
HP:0002011	Morphological central nervous system abnormality	8659	ALDH4A1	ORPHA:79101
HP:0002011	Morphological central nervous system abnormality	56244	BTNL2	ORPHA:797
HP:0002011	Morphological central nervous system abnormality	3123	HLA-DRB1	ORPHA:797
HP:0002011	Morphological central nervous system abnormality	6843	VAMP1	ORPHA:251282
HP:0002011	Morphological central nervous system abnormality	10367	MICU1	OMIM:615673
HP:0002011	Morphological central nervous system abnormality	5264	PHYH	OMIM:266500
HP:0002011	Morphological central nervous system abnormality	5698	PSMB9	OMIM:620796
HP:0002011	Morphological central nervous system abnormality	1890	TYMP	ORPHA:298
HP:0002011	Morphological central nervous system abnormality	3980	LIG3	ORPHA:298
HP:0002011	Morphological central nervous system abnormality	966	CD59	OMIM:612300
HP:0002011	Morphological central nervous system abnormality	2632	GBE1	OMIM:263570
HP:0002011	Morphological central nervous system abnormality	587	BCAT2	OMIM:618850
HP:0002011	Morphological central nervous system abnormality	4509	MT-ATP8	ORPHA:480
HP:0002011	Morphological central nervous system abnormality	5376	PMP22	OMIM:145900
HP:0002011	Morphological central nervous system abnormality	4359	MPZ	OMIM:145900
HP:0002011	Morphological central nervous system abnormality	4359	MPZ	ORPHA:101082
HP:0002011	Morphological central nervous system abnormality	1959	EGR2	OMIM:145900
HP:0002011	Morphological central nervous system abnormality	57716	PRX	OMIM:145900
HP:0002011	Morphological central nervous system abnormality	9990	SLC12A6	OMIM:218000
HP:0002011	Morphological central nervous system abnormality	50814	NSDHL	OMIM:308050
HP:0002011	Morphological central nervous system abnormality	6785	ELOVL4	OMIM:614457
HP:0002011	Morphological central nervous system abnormality	84947	SERAC1	OMIM:614739
HP:0002011	Morphological central nervous system abnormality	861	RUNX1	OMIM:601399
HP:0002011	Morphological central nervous system abnormality	429	ASCL1	ORPHA:99803
HP:0002011	Morphological central nervous system abnormality	256646	NUTM1	ORPHA:443167
HP:0002011	Morphological central nervous system abnormality	50484	RRM2B	ORPHA:329336
HP:0002011	Morphological central nervous system abnormality	246243	RNASEH1	ORPHA:329336
HP:0002011	Morphological central nervous system abnormality	6311	ATXN2	ORPHA:98756
HP:0002011	Morphological central nervous system abnormality	9158	FIBP	ORPHA:500095
HP:0002011	Morphological central nervous system abnormality	5781	PTPN11	ORPHA:500
HP:0002011	Morphological central nervous system abnormality	5781	PTPN11	OMIM:151100
HP:0002011	Morphological central nervous system abnormality	3664	IRF6	OMIM:119500
HP:0002011	Morphological central nervous system abnormality	10584	COLEC10	ORPHA:293843
HP:0002011	Morphological central nervous system abnormality	78989	COLEC11	ORPHA:293843
HP:0002011	Morphological central nervous system abnormality	6885	MAP3K7	ORPHA:1826
HP:0002011	Morphological central nervous system abnormality	3166	HMX1	OMIM:612109
HP:0002011	Morphological central nervous system abnormality	2294	FOXF1	OMIM:265380
HP:0002011	Morphological central nervous system abnormality	3590	IL11RA	OMIM:614188
HP:0002011	Morphological central nervous system abnormality	10743	RAI1	ORPHA:477817
HP:0002011	Morphological central nervous system abnormality	92002	CCNQ	ORPHA:140952
HP:0002011	Morphological central nervous system abnormality	19	ABCA1	ORPHA:31150
HP:0002011	Morphological central nervous system abnormality	2192	FBLN1	ORPHA:404451
HP:0002011	Morphological central nervous system abnormality	80204	FBXO11	OMIM:618089
HP:0002011	Morphological central nervous system abnormality	6678	SPARC	OMIM:616507
HP:0002011	Morphological central nervous system abnormality	8091	HMGA2	ORPHA:94063
HP:0002011	Morphological central nervous system abnormality	23592	LEMD3	ORPHA:94063
HP:0002011	Morphological central nervous system abnormality	860	RUNX2	OMIM:119600
HP:0002011	Morphological central nervous system abnormality	25970	SH2B1	ORPHA:261197
HP:0002011	Morphological central nervous system abnormality	6911	TBX6	OMIM:122600
HP:0002011	Morphological central nervous system abnormality	158	ADSL	OMIM:103050
HP:0002011	Morphological central nervous system abnormality	91452	ACBD5	OMIM:618863
HP:0002011	Morphological central nervous system abnormality	8506	CNTNAP1	OMIM:618186
HP:0002011	Morphological central nervous system abnormality	2517	FUCA1	OMIM:230000
HP:0002011	Morphological central nervous system abnormality	60684	TRAPPC11	OMIM:615356
HP:0002011	Morphological central nervous system abnormality	55505	NOP10	OMIM:620425
HP:0002011	Morphological central nervous system abnormality	55627	SMPD4	OMIM:618622
HP:0002011	Morphological central nervous system abnormality	79753	SNIP1	OMIM:614501
HP:0002011	Morphological central nervous system abnormality	1119	CHKA	OMIM:620023
HP:0002011	Morphological central nervous system abnormality	80208	SPG11	ORPHA:300605
HP:0002011	Morphological central nervous system abnormality	10280	SIGMAR1	ORPHA:300605
HP:0002011	Morphological central nervous system abnormality	10558	SPTLC1	ORPHA:300605
HP:0002011	Morphological central nervous system abnormality	221496	LEMD2	OMIM:619322
HP:0002011	Morphological central nervous system abnormality	90522	YIF1B	OMIM:619125
HP:0002011	Morphological central nervous system abnormality	1615	DARS1	OMIM:615281
HP:0002011	Morphological central nervous system abnormality	55182	RNF220	OMIM:619688
HP:0002011	Morphological central nervous system abnormality	3074	HEXB	OMIM:268800
HP:0002011	Morphological central nervous system abnormality	3074	HEXB	ORPHA:309155
HP:0002011	Morphological central nervous system abnormality	5859	QARS1	OMIM:615760
HP:0002011	Morphological central nervous system abnormality	9442	MED27	OMIM:619286
HP:0002011	Morphological central nervous system abnormality	5010	CLDN11	OMIM:619328
HP:0002011	Morphological central nervous system abnormality	1650	DDOST	ORPHA:300536
HP:0002011	Morphological central nervous system abnormality	64834	ELOVL1	OMIM:618527
HP:0002011	Morphological central nervous system abnormality	55005	RMND1	OMIM:614922
HP:0002011	Morphological central nervous system abnormality	2917	GRM7	OMIM:618922
HP:0002011	Morphological central nervous system abnormality	205327	C2orf69	OMIM:619423
HP:0002011	Morphological central nervous system abnormality	26005	C2CD3	OMIM:615948
HP:0002011	Morphological central nervous system abnormality	54332	GDAP1	OMIM:214400
HP:0002011	Morphological central nervous system abnormality	27152	INTU	OMIM:617926
HP:0002011	Morphological central nervous system abnormality	7074	TIAM1	OMIM:619908
HP:0002011	Morphological central nervous system abnormality	7054	TH	OMIM:605407
HP:0002011	Morphological central nervous system abnormality	7054	TH	ORPHA:101150
HP:0002011	Morphological central nervous system abnormality	9256	TSPOAP1	ORPHA:101150
HP:0002011	Morphological central nervous system abnormality	57194	ATP10A	ORPHA:411515
HP:0002011	Morphological central nervous system abnormality	1289	COL5A1	OMIM:619329
HP:0002011	Morphological central nervous system abnormality	5589	PRKCSH	OMIM:174050
HP:0002011	Morphological central nervous system abnormality	5589	PRKCSH	ORPHA:2924
HP:0002011	Morphological central nervous system abnormality	4796	TONSL	ORPHA:93357
HP:0002011	Morphological central nervous system abnormality	1277	COL1A1	ORPHA:287
HP:0002011	Morphological central nervous system abnormality	1290	COL5A2	ORPHA:287
HP:0002011	Morphological central nervous system abnormality	11231	SEC63	ORPHA:2924
HP:0002011	Morphological central nervous system abnormality	335	APOA1	OMIM:620657
HP:0002011	Morphological central nervous system abnormality	10621	POLR3F	OMIM:619872
HP:0002011	Morphological central nervous system abnormality	2653	GCSH	OMIM:620423
HP:0002011	Morphological central nervous system abnormality	6571	SLC18A2	ORPHA:352649
HP:0002011	Morphological central nervous system abnormality	22854	NTNG1	ORPHA:3095
HP:0002011	Morphological central nervous system abnormality	55610	VPS50	OMIM:619685
HP:0002011	Morphological central nervous system abnormality	7337	UBE3A	ORPHA:98794
HP:0002011	Morphological central nervous system abnormality	7337	UBE3A	ORPHA:98795
HP:0002011	Morphological central nervous system abnormality	7337	UBE3A	OMIM:105830
HP:0002011	Morphological central nervous system abnormality	7337	UBE3A	ORPHA:411511
HP:0002011	Morphological central nervous system abnormality	22796	COG2	OMIM:617395
HP:0002011	Morphological central nervous system abnormality	22796	COG2	ORPHA:435934
HP:0002011	Morphological central nervous system abnormality	54543	TOMM7	OMIM:620601
HP:0002011	Morphological central nervous system abnormality	55858	TMEM165	OMIM:614727
HP:0002011	Morphological central nervous system abnormality	22845	DOLK	OMIM:610768
HP:0002011	Morphological central nervous system abnormality	10087	CERT1	OMIM:616351
HP:0002011	Morphological central nervous system abnormality	22884	WDR37	OMIM:618652
HP:0002011	Morphological central nervous system abnormality	2903	GRIN2A	ORPHA:289266
HP:0002011	Morphological central nervous system abnormality	56947	MFF	ORPHA:485421
HP:0002011	Morphological central nervous system abnormality	56947	MFF	OMIM:617086
HP:0002011	Morphological central nervous system abnormality	118924	FRA10AC1	OMIM:620113
HP:0002011	Morphological central nervous system abnormality	84992	PIGY	ORPHA:247262
HP:0002011	Morphological central nervous system abnormality	8604	SLC25A12	OMIM:612949
HP:0002011	Morphological central nervous system abnormality	23229	ARHGEF9	OMIM:300607
HP:0002011	Morphological central nervous system abnormality	23064	SETX	OMIM:602433
HP:0002011	Morphological central nervous system abnormality	6687	SPG7	ORPHA:35689
HP:0002011	Morphological central nervous system abnormality	10908	PNPLA6	ORPHA:139480
HP:0002011	Morphological central nervous system abnormality	10908	PNPLA6	OMIM:612020
HP:0002011	Morphological central nervous system abnormality	9420	CYP7B1	ORPHA:100986
HP:0002011	Morphological central nervous system abnormality	4311	MME	OMIM:617018
HP:0002011	Morphological central nervous system abnormality	4311	MME	ORPHA:497764
HP:0002011	Morphological central nervous system abnormality	9254	CACNA2D2	OMIM:618501
HP:0002011	Morphological central nervous system abnormality	1742	DLG4	OMIM:618793
HP:0002011	Morphological central nervous system abnormality	11261	CHP1	OMIM:618438
HP:0002011	Morphological central nervous system abnormality	57410	SCYL1	ORPHA:466794
HP:0002011	Morphological central nervous system abnormality	57410	SCYL1	OMIM:616719
HP:0002011	Morphological central nervous system abnormality	476	ATP1A1	ORPHA:564178
HP:0002011	Morphological central nervous system abnormality	3426	CFI	OMIM:610984
HP:0002011	Morphological central nervous system abnormality	4615	MYD88	OMIM:612260
HP:0002011	Morphological central nervous system abnormality	24142	NAA80	OMIM:620830
HP:0002011	Morphological central nervous system abnormality	90161	HS6ST2	OMIM:301025
HP:0002011	Morphological central nervous system abnormality	129685	TAF8	OMIM:619972
HP:0002011	Morphological central nervous system abnormality	200734	SPRED2	OMIM:619745
HP:0002011	Morphological central nervous system abnormality	284252	KCTD1	OMIM:181270
HP:0002011	Morphological central nervous system abnormality	1075	CTSC	OMIM:245000
HP:0002011	Morphological central nervous system abnormality	80267	EDEM3	OMIM:619493
HP:0002011	Morphological central nervous system abnormality	1642	DDB1	OMIM:619426
HP:0002011	Morphological central nervous system abnormality	4713	NDUFB7	OMIM:620135
HP:0002011	Morphological central nervous system abnormality	51099	ABHD5	ORPHA:98907
HP:0002011	Morphological central nervous system abnormality	7167	TPI1	ORPHA:868
HP:0002011	Morphological central nervous system abnormality	112755	STX1B	ORPHA:36387
HP:0002011	Morphological central nervous system abnormality	26173	INTS1	OMIM:618571
HP:0002011	Morphological central nervous system abnormality	51780	KDM3B	OMIM:618846
HP:0002011	Morphological central nervous system abnormality	9772	TMEM94	OMIM:618316
HP:0002011	Morphological central nervous system abnormality	6774	STAT3	ORPHA:2314
HP:0002011	Morphological central nervous system abnormality	11145	PLAAT3	OMIM:620683
HP:0002011	Morphological central nervous system abnormality	5076	PAX2	OMIM:120330
HP:0002011	Morphological central nervous system abnormality	135	ADORA2A	ORPHA:363549
HP:0002011	Morphological central nervous system abnormality	790955	UQCC3	OMIM:616111
HP:0002011	Morphological central nervous system abnormality	9817	KEAP1	ORPHA:276399
HP:0002011	Morphological central nervous system abnormality	160418	TMTC3	ORPHA:98892
HP:0002011	Morphological central nervous system abnormality	10564	ARFGEF2	ORPHA:98892
HP:0002011	Morphological central nervous system abnormality	10564	ARFGEF2	OMIM:608097
HP:0002011	Morphological central nervous system abnormality	23522	KAT6B	OMIM:606170
HP:0002011	Morphological central nervous system abnormality	5162	PDHB	ORPHA:255138
HP:0002011	Morphological central nervous system abnormality	22983	MAST1	OMIM:618273
HP:0002011	Morphological central nervous system abnormality	55790	CSGALNACT1	OMIM:618870
HP:0002011	Morphological central nervous system abnormality	84148	KAT8	OMIM:618974
HP:0002011	Morphological central nervous system abnormality	8449	DHX16	OMIM:618733
HP:0002011	Morphological central nervous system abnormality	51204	TACO1	OMIM:619052
HP:0002011	Morphological central nervous system abnormality	57107	PDSS2	OMIM:614652
HP:0002011	Morphological central nervous system abnormality	3949	LDLR	ORPHA:391665
HP:0002011	Morphological central nervous system abnormality	255738	PCSK9	ORPHA:391665
HP:0002011	Morphological central nervous system abnormality	26119	LDLRAP1	ORPHA:391665
HP:0002011	Morphological central nervous system abnormality	338	APOB	ORPHA:391665
HP:0002011	Morphological central nervous system abnormality	64240	ABCG5	ORPHA:391665
HP:0002011	Morphological central nervous system abnormality	64241	ABCG8	ORPHA:391665
HP:0002011	Morphological central nervous system abnormality	1513	CTSK	ORPHA:763
HP:0002011	Morphological central nervous system abnormality	3295	HSD17B4	OMIM:261515
HP:0002011	Morphological central nervous system abnormality	136647	MPLKIP	ORPHA:33364
HP:0002011	Morphological central nervous system abnormality	6897	TARS1	ORPHA:33364
HP:0002011	Morphological central nervous system abnormality	2961	GTF2E2	ORPHA:33364
HP:0002011	Morphological central nervous system abnormality	6663	SOX10	OMIM:609136
HP:0002011	Morphological central nervous system abnormality	57192	MCOLN1	OMIM:252650
HP:0002011	Morphological central nervous system abnormality	714	C1QC	OMIM:620322
HP:0002011	Morphological central nervous system abnormality	3561	IL2RG	OMIM:300400
HP:0002011	Morphological central nervous system abnormality	10128	LRPPRC	OMIM:220111
HP:0002011	Morphological central nervous system abnormality	4547	MTTP	OMIM:200100
HP:0002011	Morphological central nervous system abnormality	54148	MRPL39	OMIM:620646
HP:0002011	Morphological central nervous system abnormality	3643	INSR	ORPHA:769
HP:0002011	Morphological central nervous system abnormality	4143	MAT1A	OMIM:250850
HP:0002011	Morphological central nervous system abnormality	224	ALDH3A2	OMIM:270200
HP:0002011	Morphological central nervous system abnormality	1967	EIF2B1	OMIM:603896
HP:0002011	Morphological central nervous system abnormality	3119	HLA-DQB1	OMIM:126200
HP:0002011	Morphological central nervous system abnormality	79736	TEFM	OMIM:620451
HP:0002011	Morphological central nervous system abnormality	56652	TWNK	OMIM:607459
HP:0002011	Morphological central nervous system abnormality	56652	TWNK	ORPHA:70595
HP:0002011	Morphological central nervous system abnormality	7072	TIA1	OMIM:619133
HP:0002011	Morphological central nervous system abnormality	7277	TUBA4A	OMIM:616208
HP:0002011	Morphological central nervous system abnormality	23476	BRD4	ORPHA:199
HP:0002011	Morphological central nervous system abnormality	9126	SMC3	ORPHA:199
HP:0002011	Morphological central nervous system abnormality	6878	TAF6	ORPHA:199
HP:0002011	Morphological central nervous system abnormality	25836	NIPBL	ORPHA:199
HP:0002011	Morphological central nervous system abnormality	55869	HDAC8	ORPHA:199
HP:0002011	Morphological central nervous system abnormality	5885	RAD21	ORPHA:199
HP:0002011	Morphological central nervous system abnormality	5396	PRRX1	ORPHA:990
HP:0002011	Morphological central nervous system abnormality	7399	USH2A	ORPHA:231178
HP:0002011	Morphological central nervous system abnormality	79955	PDZD7	ORPHA:231178
HP:0002011	Morphological central nervous system abnormality	4647	MYO7A	ORPHA:231178
HP:0002011	Morphological central nervous system abnormality	4647	MYO7A	ORPHA:231169
HP:0002011	Morphological central nervous system abnormality	25861	WHRN	ORPHA:231178
HP:0002011	Morphological central nervous system abnormality	84059	ADGRV1	ORPHA:231178
HP:0002011	Morphological central nervous system abnormality	27238	GPKOW	ORPHA:2570
HP:0002011	Morphological central nervous system abnormality	11340	EXOSC8	ORPHA:2254
HP:0002011	Morphological central nervous system abnormality	5393	EXOSC9	ORPHA:2254
HP:0002011	Morphological central nervous system abnormality	51010	EXOSC3	ORPHA:2254
HP:0002011	Morphological central nervous system abnormality	7443	VRK1	ORPHA:2254
HP:0002011	Morphological central nervous system abnormality	91137	SLC25A46	ORPHA:2254
HP:0002011	Morphological central nervous system abnormality	1654	DDX3X	ORPHA:3338
HP:0002011	Morphological central nervous system abnormality	9640	ZNF592	ORPHA:83472
HP:0002011	Morphological central nervous system abnormality	55636	CHD7	ORPHA:138
HP:0002011	Morphological central nervous system abnormality	9723	SEMA3E	ORPHA:138
HP:0002011	Morphological central nervous system abnormality	57231	SNX14	ORPHA:397709
HP:0002011	Morphological central nervous system abnormality	389827	MYMK	ORPHA:1358
HP:0002011	Morphological central nervous system abnormality	101929726	MYMX	ORPHA:1358
HP:0002011	Morphological central nervous system abnormality	2067	ERCC1	ORPHA:1466
HP:0002011	Morphological central nervous system abnormality	4693	NDP	ORPHA:649
HP:0002011	Morphological central nervous system abnormality	2697	GJA1	ORPHA:2710
HP:0002011	Morphological central nervous system abnormality	64072	CDH23	ORPHA:231169
HP:0002011	Morphological central nervous system abnormality	10083	USH1C	ORPHA:231169
HP:0002011	Morphological central nervous system abnormality	124590	USH1G	ORPHA:231169
HP:0002011	Morphological central nervous system abnormality	83715	ESPN	ORPHA:231169
HP:0002011	Morphological central nervous system abnormality	10518	CIB2	ORPHA:231169
HP:0002011	Morphological central nervous system abnormality	65217	PCDH15	ORPHA:231169
HP:0002011	Morphological central nervous system abnormality	54872	PIGG	ORPHA:280
HP:0002011	Morphological central nervous system abnormality	7469	NELFA	ORPHA:280
HP:0002011	Morphological central nervous system abnormality	9184	BUB3	ORPHA:1052
HP:0002011	Morphological central nervous system abnormality	699	BUB1	ORPHA:1052
HP:0002011	Morphological central nervous system abnormality	9702	CEP57	ORPHA:1052
HP:0002011	Morphological central nervous system abnormality	9319	TRIP13	ORPHA:1052
HP:0002011	Morphological central nervous system abnormality	219285	SAMD9L	ORPHA:2585
HP:0002011	Morphological central nervous system abnormality	4668	NAGA	ORPHA:79279
HP:0002011	Morphological central nervous system abnormality	477	ATP1A2	OMIM:619602
HP:0002011	Morphological central nervous system abnormality	10059	DNM1L	ORPHA:98673
HP:0002011	Morphological central nervous system abnormality	4976	OPA1	ORPHA:98673
HP:0002011	Morphological central nervous system abnormality	535	ATP6V0A1	OMIM:619971
HP:0002011	Morphological central nervous system abnormality	10466	COG5	ORPHA:263487
HP:0002011	Morphological central nervous system abnormality	10466	COG5	OMIM:613612
HP:0002011	Morphological central nervous system abnormality	84340	GFM2	ORPHA:565624
HP:0002011	Morphological central nervous system abnormality	2775	GNAO1	OMIM:617493
HP:0002011	Morphological central nervous system abnormality	11284	PNKP	OMIM:616267
HP:0002011	Morphological central nervous system abnormality	23345	SYNE1	ORPHA:88644
HP:0002011	Morphological central nervous system abnormality	9512	PMPCB	OMIM:617954
HP:0002011	Morphological central nervous system abnormality	6709	SPTAN1	OMIM:613477
HP:0002011	Morphological central nervous system abnormality	131118	DNAJC19	ORPHA:66634
HP:0002011	Morphological central nervous system abnormality	7355	SLC35A2	ORPHA:356961
HP:0002011	Morphological central nervous system abnormality	8560	DEGS1	OMIM:618404
HP:0002011	Morphological central nervous system abnormality	60481	ELOVL5	OMIM:615957
HP:0002011	Morphological central nervous system abnormality	10667	FARS2	OMIM:614946
HP:0002011	Morphological central nervous system abnormality	51608	GET4	OMIM:620200
HP:0002011	Morphological central nervous system abnormality	5611	DNAJC3	OMIM:616192
HP:0002011	Morphological central nervous system abnormality	5611	DNAJC3	ORPHA:445062
HP:0002011	Morphological central nervous system abnormality	10715	CERS1	OMIM:616230
HP:0002011	Morphological central nervous system abnormality	10935	PRDX3	OMIM:619862
HP:0002011	Morphological central nervous system abnormality	8295	TRRAP	OMIM:618454
HP:0002011	Morphological central nervous system abnormality	122553	TRAPPC6B	OMIM:617862
HP:0002011	Morphological central nervous system abnormality	84342	COG8	OMIM:611182
HP:0002011	Morphological central nervous system abnormality	84342	COG8	ORPHA:95428
HP:0002011	Morphological central nervous system abnormality	1892	ECHS1	OMIM:616277
HP:0002011	Morphological central nervous system abnormality	478	ATP1A3	OMIM:619606
HP:0002011	Morphological central nervous system abnormality	57038	RARS2	OMIM:611523
HP:0002011	Morphological central nervous system abnormality	6310	ATXN1	ORPHA:98755
HP:0002011	Morphological central nervous system abnormality	79718	TBL1XR1	ORPHA:487825
HP:0002011	Morphological central nervous system abnormality	3708	ITPR1	OMIM:117360
HP:0002011	Morphological central nervous system abnormality	4036	LRP2	OMIM:222448
HP:0002011	Morphological central nervous system abnormality	4036	LRP2	ORPHA:2143
HP:0002011	Morphological central nervous system abnormality	26275	HIBCH	ORPHA:88639
HP:0002011	Morphological central nervous system abnormality	51715	RAB23	OMIM:201000
HP:0002011	Morphological central nervous system abnormality	51114	ZDHHC9	ORPHA:776
HP:0002011	Morphological central nervous system abnormality	65109	UPF3B	ORPHA:776
HP:0002011	Morphological central nervous system abnormality	257	ALX3	ORPHA:391474
HP:0002011	Morphological central nervous system abnormality	4099	MAG	OMIM:616680
HP:0002011	Morphological central nervous system abnormality	777	CACNA1E	OMIM:618285
HP:0002011	Morphological central nervous system abnormality	84631	SLITRK2	OMIM:301107
HP:0002011	Morphological central nervous system abnormality	27247	NFU1	OMIM:620938
HP:0002011	Morphological central nervous system abnormality	27072	VPS41	OMIM:619389
HP:0002011	Morphological central nervous system abnormality	51761	ATP8A2	OMIM:615268
HP:0002011	Morphological central nervous system abnormality	8890	EIF2B4	OMIM:620314
HP:0002011	Morphological central nervous system abnormality	6804	STX1A	ORPHA:904
HP:0002011	Morphological central nervous system abnormality	7461	CLIP2	ORPHA:904
HP:0002011	Morphological central nervous system abnormality	84277	DNAJC30	ORPHA:904
HP:0002011	Morphological central nervous system abnormality	8468	FKBP6	ORPHA:904
HP:0002011	Morphological central nervous system abnormality	5982	RFC2	ORPHA:904
HP:0002011	Morphological central nervous system abnormality	2969	GTF2I	ORPHA:904
HP:0002011	Morphological central nervous system abnormality	3984	LIMK1	ORPHA:904
HP:0002011	Morphological central nervous system abnormality	9569	GTF2IRD1	ORPHA:904
HP:0002011	Morphological central nervous system abnormality	155382	VPS37D	ORPHA:904
HP:0002011	Morphological central nervous system abnormality	155368	METTL27	ORPHA:904
HP:0002011	Morphological central nervous system abnormality	114049	BUD23	ORPHA:904
HP:0002011	Morphological central nervous system abnormality	7458	EIF4H	ORPHA:904
HP:0002011	Morphological central nervous system abnormality	84163	GTF2IRD2	ORPHA:904
HP:0002011	Morphological central nervous system abnormality	26608	TBL2	ORPHA:904
HP:0002011	Morphological central nervous system abnormality	653361	NCF1	ORPHA:904
HP:0002011	Morphological central nervous system abnormality	135886	TMEM270	ORPHA:904
HP:0002011	Morphological central nervous system abnormality	9031	BAZ1B	ORPHA:904
HP:0002011	Morphological central nervous system abnormality	2006	ELN	ORPHA:904
HP:0002011	Morphological central nervous system abnormality	55131	RBM28	ORPHA:157954
HP:0002011	Morphological central nervous system abnormality	5575	PRKAR1B	ORPHA:412066
HP:0002011	Morphological central nervous system abnormality	23636	NUP62	ORPHA:225154
HP:0002011	Morphological central nervous system abnormality	1621	DBH	OMIM:223360
HP:0002011	Morphological central nervous system abnormality	3547	IGSF1	OMIM:300888
HP:0002011	Morphological central nervous system abnormality	8675	STX16	ORPHA:94089
HP:0002011	Morphological central nervous system abnormality	1730	DIAPH2	OMIM:300511
HP:0002011	Morphological central nervous system abnormality	2100	ESR2	OMIM:618187
HP:0002011	Morphological central nervous system abnormality	147872	KASH5	OMIM:620548
HP:0002011	Morphological central nervous system abnormality	84515	MCM8	OMIM:612885
HP:0002011	Morphological central nervous system abnormality	7555	CNBP	OMIM:602668
HP:0002011	Morphological central nervous system abnormality	317761	C14orf39	OMIM:619203
HP:0002011	Morphological central nervous system abnormality	3972	LHB	OMIM:228300
HP:0002011	Morphological central nervous system abnormality	164045	HFM1	OMIM:615724
HP:0002011	Morphological central nervous system abnormality	84634	KISS1R	OMIM:176400
HP:0002011	Morphological central nervous system abnormality	84690	SPATA22	OMIM:621002
HP:0002011	Morphological central nervous system abnormality	254394	MCM9	OMIM:616185
HP:0002011	Morphological central nervous system abnormality	221711	SYCP2L	OMIM:620840
HP:0002011	Morphological central nervous system abnormality	658	BMPR1B	OMIM:609441
HP:0002011	Morphological central nervous system abnormality	367	AR	OMIM:300068
HP:0002011	Morphological central nervous system abnormality	84733	CBX2	OMIM:613080
HP:0002011	Morphological central nervous system abnormality	93953	GCNA	OMIM:301077
HP:0002011	Morphological central nervous system abnormality	2661	GDF9	OMIM:618014
HP:0002011	Morphological central nervous system abnormality	344018	FIGLA	OMIM:612310
HP:0002011	Morphological central nervous system abnormality	78995	HROB	OMIM:620897
HP:0002011	Morphological central nervous system abnormality	7200	TRH	OMIM:275120
HP:0002011	Morphological central nervous system abnormality	3952	LEP	ORPHA:66628
HP:0002011	Morphological central nervous system abnormality	5631	PRPS1	ORPHA:1187
HP:0002011	Morphological central nervous system abnormality	5631	PRPS1	OMIM:301835
HP:0002011	Morphological central nervous system abnormality	4437	MSH3	OMIM:617100
HP:0002011	Morphological central nervous system abnormality	4437	MSH3	ORPHA:480536
HP:0002011	Morphological central nervous system abnormality	3418	IDH2	ORPHA:163634
HP:0002011	Morphological central nervous system abnormality	7428	VHL	OMIM:193300
HP:0002011	Morphological central nervous system abnormality	2303	FOXC2	ORPHA:33001
HP:0002011	Morphological central nervous system abnormality	23265	EXOC7	OMIM:619072
HP:0002011	Morphological central nervous system abnormality	1457	CSNK2A1	OMIM:617062
HP:0002011	Morphological central nervous system abnormality	91875	TTC5	OMIM:619244
HP:0002011	Morphological central nervous system abnormality	10293	TRAIP	OMIM:616777
HP:0002011	Morphological central nervous system abnormality	7280	TUBB2A	OMIM:615763
HP:0002011	Morphological central nervous system abnormality	7518	XRCC4	OMIM:616541
HP:0002011	Morphological central nervous system abnormality	6597	SMARCA4	ORPHA:1465
HP:0002011	Morphological central nervous system abnormality	6659	SOX4	ORPHA:1465
HP:0002011	Morphological central nervous system abnormality	8289	ARID1A	ORPHA:1465
HP:0002011	Morphological central nervous system abnormality	5977	DPF2	ORPHA:1465
HP:0002011	Morphological central nervous system abnormality	6601	SMARCC2	ORPHA:1465
HP:0002011	Morphological central nervous system abnormality	6602	SMARCD1	ORPHA:1465
HP:0002011	Morphological central nervous system abnormality	196528	ARID2	ORPHA:1465
HP:0002011	Morphological central nervous system abnormality	6664	SOX11	ORPHA:1465
HP:0002011	Morphological central nervous system abnormality	7436	VLDLR	OMIM:224050
HP:0002011	Morphological central nervous system abnormality	267010	RNU12	OMIM:620208
HP:0002011	Morphological central nervous system abnormality	85459	CEP295	OMIM:620767
HP:0002011	Morphological central nervous system abnormality	10015	PDCD6IP	OMIM:620047
HP:0002011	Morphological central nervous system abnormality	84081	NSRP1	OMIM:620001
HP:0002011	Morphological central nervous system abnormality	1781	DYNC1I2	OMIM:618492
HP:0002011	Morphological central nervous system abnormality	3832	KIF11	OMIM:152950
HP:0002011	Morphological central nervous system abnormality	51053	GMNN	OMIM:616835
HP:0002011	Morphological central nervous system abnormality	29980	DONSON	OMIM:617604
HP:0002011	Morphological central nervous system abnormality	29980	DONSON	OMIM:251230
HP:0002011	Morphological central nervous system abnormality	4548	MTR	OMIM:601634
HP:0002011	Morphological central nervous system abnormality	4522	MTHFD1	OMIM:601634
HP:0002011	Morphological central nervous system abnormality	4552	MTRR	OMIM:601634
HP:0002011	Morphological central nervous system abnormality	3835	KIF22	OMIM:603546
HP:0002011	Morphological central nervous system abnormality	6023	RMRP	ORPHA:175
HP:0002011	Morphological central nervous system abnormality	23498	HAAO	OMIM:617660
HP:0002011	Morphological central nervous system abnormality	9790	BMS1	ORPHA:1114
HP:0002011	Morphological central nervous system abnormality	5339	PLEC	ORPHA:1114
HP:0002011	Morphological central nervous system abnormality	10054	UBA2	ORPHA:1114
HP:0002011	Morphological central nervous system abnormality	3691	ITGB4	ORPHA:1114
HP:0002011	Morphological central nervous system abnormality	54567	DLL4	ORPHA:1114
HP:0002011	Morphological central nervous system abnormality	51339	DACT1	ORPHA:63260
HP:0002011	Morphological central nervous system abnormality	6662	SOX9	OMIM:114290
HP:0002011	Morphological central nervous system abnormality	388015	RTL1	ORPHA:96334
HP:0002011	Morphological central nervous system abnormality	8788	DLK1	ORPHA:96334
HP:0002011	Morphological central nervous system abnormality	55384	MEG3	ORPHA:96334
HP:0002011	Morphological central nervous system abnormality	65998	ZFTA	ORPHA:251636
HP:0002011	Morphological central nervous system abnormality	6598	SMARCB1	ORPHA:93921
HP:0002011	Morphological central nervous system abnormality	6598	SMARCB1	OMIM:162091
HP:0002011	Morphological central nervous system abnormality	51004	COQ6	ORPHA:93921
HP:0002011	Morphological central nervous system abnormality	8216	LZTR1	ORPHA:93921
HP:0002011	Morphological central nervous system abnormality	8216	LZTR1	OMIM:615670
HP:0002011	Morphological central nervous system abnormality	1387	CREBBP	ORPHA:353281
HP:0002011	Morphological central nervous system abnormality	2313	FLI1	ORPHA:370348
HP:0002011	Morphological central nervous system abnormality	3417	IDH1	ORPHA:99646
HP:0002011	Morphological central nervous system abnormality	5456	POU3F4	ORPHA:1435
HP:0002011	Morphological central nervous system abnormality	2688	GH1	OMIM:173100
HP:0002011	Morphological central nervous system abnormality	148867	SLC30A7	OMIM:620501
HP:0002011	Morphological central nervous system abnormality	6926	TBX3	OMIM:181450
HP:0002011	Morphological central nervous system abnormality	2692	GHRHR	OMIM:618157
HP:0002011	Morphological central nervous system abnormality	55209	SETD5	ORPHA:404440
HP:0002011	Morphological central nervous system abnormality	2395	FXN	ORPHA:95
HP:0002011	Morphological central nervous system abnormality	3458	IFNG	ORPHA:805
HP:0002011	Morphological central nervous system abnormality	29998	BICRA	OMIM:619325
HP:0002011	Morphological central nervous system abnormality	6599	SMARCC1	OMIM:620241
HP:0002011	Morphological central nervous system abnormality	23030	KDM4B	OMIM:619320
HP:0002011	Morphological central nervous system abnormality	55157	DARS2	ORPHA:137898
HP:0002011	Morphological central nervous system abnormality	5832	ALDH18A1	ORPHA:447753
HP:0002011	Morphological central nervous system abnormality	84987	COX14	OMIM:619053
HP:0002011	Morphological central nervous system abnormality	54828	BCAS3	OMIM:619641
HP:0002011	Morphological central nervous system abnormality	5354	PLP1	OMIM:312080
HP:0002011	Morphological central nervous system abnormality	84706	GPT2	ORPHA:477673
HP:0002011	Morphological central nervous system abnormality	57498	KIDINS220	ORPHA:521390
HP:0002011	Morphological central nervous system abnormality	2548	GAA	OMIM:232300
HP:0002011	Morphological central nervous system abnormality	8635	RNASET2	OMIM:612951
HP:0002011	Morphological central nervous system abnormality	2071	ERCC3	OMIM:610651
HP:0002011	Morphological central nervous system abnormality	23729	SHPK	ORPHA:440713
HP:0002011	Morphological central nervous system abnormality	5238	PGM3	OMIM:615816
HP:0002011	Morphological central nervous system abnormality	3425	IDUA	OMIM:607014
HP:0002011	Morphological central nervous system abnormality	90952	ESAM	OMIM:620371
HP:0002011	Morphological central nervous system abnormality	9918	NCAPD2	OMIM:617983
HP:0002011	Morphological central nervous system abnormality	1984	EIF5A	OMIM:619376
HP:0002011	Morphological central nervous system abnormality	51294	PCDH12	OMIM:251280
HP:0002011	Morphological central nervous system abnormality	6045	RNF2	OMIM:619460
HP:0002011	Morphological central nervous system abnormality	4905	NSF	OMIM:619340
HP:0002011	Morphological central nervous system abnormality	3712	IVD	OMIM:243500
HP:0002011	Morphological central nervous system abnormality	9095	TBX19	OMIM:201400
HP:0002011	Morphological central nervous system abnormality	84133	ZNRF3	ORPHA:1501
HP:0002011	Morphological central nervous system abnormality	3284	HSD3B2	ORPHA:90791
HP:0002011	Morphological central nervous system abnormality	80222	TARS2	OMIM:615918
HP:0002011	Morphological central nervous system abnormality	25793	FBXO7	ORPHA:171695
HP:0002011	Morphological central nervous system abnormality	2488	FSHB	OMIM:229070
HP:0002011	Morphological central nervous system abnormality	55773	TBC1D23	OMIM:617695
HP:0002011	Morphological central nervous system abnormality	94005	PIGS	OMIM:618143
HP:0002011	Morphological central nervous system abnormality	9681	DEPDC5	OMIM:620504
HP:0002011	Morphological central nervous system abnormality	2972	BRF1	OMIM:616202
HP:0002011	Morphological central nervous system abnormality	2972	BRF1	ORPHA:444072
HP:0002011	Morphological central nervous system abnormality	85440	DOCK7	ORPHA:411986
HP:0002011	Morphological central nervous system abnormality	85440	DOCK7	OMIM:615859
HP:0002011	Morphological central nervous system abnormality	4190	MDH1	OMIM:618959
HP:0002011	Morphological central nervous system abnormality	10297	APC2	OMIM:618677
HP:0002011	Morphological central nervous system abnormality	64221	ROBO3	OMIM:607313
HP:0002011	Morphological central nervous system abnormality	271	AMPD2	OMIM:615809
HP:0002011	Morphological central nervous system abnormality	6595	SMARCA2	OMIM:619293
HP:0002011	Morphological central nervous system abnormality	10273	STUB1	ORPHA:412057
HP:0002011	Morphological central nervous system abnormality	738	VPS51	OMIM:618606
HP:0002011	Morphological central nervous system abnormality	9439	MED23	OMIM:614249
HP:0002011	Morphological central nervous system abnormality	10195	ALG3	ORPHA:79321
HP:0002011	Morphological central nervous system abnormality	191	AHCY	ORPHA:88618
HP:0002011	Morphological central nervous system abnormality	8884	SLC5A6	OMIM:618973
HP:0002011	Morphological central nervous system abnormality	92935	MARS2	OMIM:616430
HP:0002011	Morphological central nervous system abnormality	7471	WNT1	OMIM:615220
HP:0002011	Morphological central nervous system abnormality	10243	GPHN	OMIM:615501
HP:0002011	Morphological central nervous system abnormality	9181	ARHGEF2	OMIM:617523
HP:0002011	Morphological central nervous system abnormality	51013	EXOSC1	OMIM:619304
HP:0002011	Morphological central nervous system abnormality	7319	UBE2A	ORPHA:163956
HP:0002011	Morphological central nervous system abnormality	55361	PI4K2A	OMIM:620732
HP:0002011	Morphological central nervous system abnormality	27445	PCLO	OMIM:608027
HP:0002011	Morphological central nervous system abnormality	59336	PRDM13	OMIM:619909
HP:0002011	Morphological central nervous system abnormality	137682	NDUFAF6	OMIM:618239
HP:0002011	Morphological central nervous system abnormality	64849	SLC13A3	OMIM:618384
HP:0002011	Morphological central nervous system abnormality	103	ADAR	OMIM:615010
HP:0002011	Morphological central nervous system abnormality	129607	CMPK2	OMIM:621018
HP:0002011	Morphological central nervous system abnormality	773	CACNA1A	ORPHA:569
HP:0002011	Morphological central nervous system abnormality	112476	PRRT2	ORPHA:569
HP:0002011	Morphological central nervous system abnormality	6323	SCN1A	ORPHA:569
HP:0002011	Morphological central nervous system abnormality	5551	PRF1	ORPHA:540
HP:0002011	Morphological central nervous system abnormality	5551	PRF1	OMIM:603553
HP:0002011	Morphological central nervous system abnormality	8676	STX11	ORPHA:540
HP:0002011	Morphological central nervous system abnormality	201294	UNC13D	ORPHA:540
HP:0002011	Morphological central nervous system abnormality	6813	STXBP2	ORPHA:540
HP:0002011	Morphological central nervous system abnormality	134353	LSM11	OMIM:619486
HP:0002011	Morphological central nervous system abnormality	355	FAS	ORPHA:3437
HP:0002011	Morphological central nervous system abnormality	26191	PTPN22	ORPHA:3437
HP:0002011	Morphological central nervous system abnormality	100996717	NOTCH2NLC	OMIM:603472
HP:0002011	Morphological central nervous system abnormality	3953	LEPR	OMIM:614963
HP:0002011	Morphological central nervous system abnormality	3071	NCKAP1L	OMIM:618982
HP:0002011	Morphological central nervous system abnormality	677814	SNORA31	OMIM:619396
HP:0002011	Morphological central nervous system abnormality	10525	HYOU1	OMIM:233600
HP:0002011	Morphological central nervous system abnormality	6660	SOX5	ORPHA:313892
HP:0002011	Morphological central nervous system abnormality	51322	WAC	ORPHA:284169
HP:0002011	Morphological central nervous system abnormality	23019	CNOT1	ORPHA:556955
HP:0002011	Morphological central nervous system abnormality	11253	MAN1B1	ORPHA:397941
HP:0002011	Morphological central nervous system abnormality	23394	ADNP	ORPHA:404448
HP:0002011	Morphological central nervous system abnormality	79868	ALG13	ORPHA:324422
HP:0002011	Morphological central nervous system abnormality	6651	SON	ORPHA:500150
HP:0002011	Morphological central nervous system abnormality	166378	AFG2A	ORPHA:457351
HP:0002011	Morphological central nervous system abnormality	51360	MBTPS2	ORPHA:85284
HP:0002011	Morphological central nervous system abnormality	25974	MMACHC	ORPHA:79282
HP:0002011	Morphological central nervous system abnormality	9361	LONP1	ORPHA:79243
HP:0002011	Morphological central nervous system abnormality	5160	PDHA1	ORPHA:79243
HP:0002011	Morphological central nervous system abnormality	79644	SRD5A3	ORPHA:324737
HP:0002011	Morphological central nervous system abnormality	79228	THOC6	ORPHA:363444
HP:0002011	Morphological central nervous system abnormality	29925	GMPPB	ORPHA:370959
HP:0002011	Morphological central nervous system abnormality	57216	VANGL2	ORPHA:563612
HP:0002011	Morphological central nervous system abnormality	23111	SPART	ORPHA:101000
HP:0002011	Morphological central nervous system abnormality	26053	AUTS2	ORPHA:352490
HP:0002011	Morphological central nervous system abnormality	113179	ADAT3	ORPHA:363528
HP:0002011	Morphological central nervous system abnormality	83696	TRAPPC9	ORPHA:352530
HP:0002011	Morphological central nervous system abnormality	27245	AHDC1	ORPHA:412069
HP:0002011	Morphological central nervous system abnormality	4281	MID1	ORPHA:2745
HP:0002011	Morphological central nervous system abnormality	55690	PACS1	ORPHA:329224
HP:0002011	Morphological central nervous system abnormality	55294	FBXW7	OMIM:620012
HP:0002011	Morphological central nervous system abnormality	54496	PRMT7	ORPHA:464288
HP:0002011	Morphological central nervous system abnormality	7187	TRAF3	ORPHA:1930
HP:0002011	Morphological central nervous system abnormality	81622	UNC93B1	ORPHA:1930
HP:0002011	Morphological central nervous system abnormality	148022	TICAM1	ORPHA:1930
HP:0002011	Morphological central nervous system abnormality	7098	TLR3	ORPHA:1930
HP:0002011	Morphological central nervous system abnormality	29110	TBK1	ORPHA:1930
HP:0002011	Morphological central nervous system abnormality	3756	KCNH1	ORPHA:420561
HP:0002011	Morphological central nervous system abnormality	54664	TMEM106B	ORPHA:100069
HP:0002011	Morphological central nervous system abnormality	55906	ZC4H2	OMIM:301041
HP:0002011	Morphological central nervous system abnormality	4558	MT-TF	ORPHA:550
HP:0002011	Morphological central nervous system abnormality	4572	MT-TQ	ORPHA:550
HP:0002011	Morphological central nervous system abnormality	4512	MT-CO1	ORPHA:550
HP:0002011	Morphological central nervous system abnormality	4513	MT-CO2	ORPHA:550
HP:0002011	Morphological central nervous system abnormality	4514	MT-CO3	ORPHA:550
HP:0002011	Morphological central nervous system abnormality	4578	MT-TW	ORPHA:550
HP:0002011	Morphological central nervous system abnormality	4540	MT-ND5	ORPHA:550
HP:0002011	Morphological central nervous system abnormality	4541	MT-ND6	ORPHA:550
HP:0002011	Morphological central nervous system abnormality	4535	MT-ND1	ORPHA:550
HP:0002011	Morphological central nervous system abnormality	4538	MT-ND4	ORPHA:550
HP:0002011	Morphological central nervous system abnormality	4567	MT-TL1	ORPHA:550
HP:0002011	Morphological central nervous system abnormality	4574	MT-TS1	ORPHA:550
HP:0002011	Morphological central nervous system abnormality	4575	MT-TS2	ORPHA:550
HP:0002011	Morphological central nervous system abnormality	4564	MT-TH	ORPHA:550
HP:0002011	Morphological central nervous system abnormality	51399	TRAPPC4	OMIM:618741
HP:0002011	Morphological central nervous system abnormality	4723	NDUFV1	OMIM:618225
HP:0002011	Morphological central nervous system abnormality	9853	RUSC2	OMIM:617773
HP:0002011	Morphological central nervous system abnormality	54517	PUS7	OMIM:618342
HP:0002011	Morphological central nervous system abnormality	5994	RFXAP	OMIM:620817
HP:0002011	Morphological central nervous system abnormality	1161	ERCC8	ORPHA:90324
HP:0002011	Morphological central nervous system abnormality	54973	INTS11	OMIM:620428
HP:0002011	Morphological central nervous system abnormality	4719	NDUFS1	OMIM:618226
HP:0002011	Morphological central nervous system abnormality	4720	NDUFS2	OMIM:618228
HP:0002011	Morphological central nervous system abnormality	4729	NDUFV2	OMIM:618229
HP:0002011	Morphological central nervous system abnormality	10274	STAG1	ORPHA:502434
HP:0002011	Morphological central nervous system abnormality	1729	DIAPH1	ORPHA:477814
HP:0002011	Morphological central nervous system abnormality	6341	SCO1	OMIM:619048
HP:0002011	Morphological central nervous system abnormality	126328	NDUFA11	OMIM:618236
HP:0002011	Morphological central nervous system abnormality	283489	CHAMP1	OMIM:616579
HP:0002011	Morphological central nervous system abnormality	22880	MORC2	ORPHA:466768
HP:0002011	Morphological central nervous system abnormality	8312	AXIN1	OMIM:620558
HP:0002011	Morphological central nervous system abnormality	56246	MRAP	OMIM:607398
HP:0002011	Morphological central nervous system abnormality	9382	COG1	OMIM:611209
HP:0002011	Morphological central nervous system abnormality	1353	COX11	OMIM:620275
HP:0002011	Morphological central nervous system abnormality	427	ASAH1	ORPHA:333
HP:0002011	Morphological central nervous system abnormality	2895	GRID2	ORPHA:363432
HP:0002011	Morphological central nervous system abnormality	1351	COX8A	OMIM:619059
HP:0002011	Morphological central nervous system abnormality	10134	BCAP31	ORPHA:369939
HP:0002011	Morphological central nervous system abnormality	3899	AFF3	OMIM:619297
HP:0002011	Morphological central nervous system abnormality	11080	DNAJB4	OMIM:620326
HP:0002011	Morphological central nervous system abnormality	27315	PGAP2	OMIM:614207
HP:0002011	Morphological central nervous system abnormality	400569	MED11	OMIM:620327
HP:0002011	Morphological central nervous system abnormality	29967	LRP12	OMIM:164310
HP:0002011	Morphological central nervous system abnormality	11212	PLPBP	ORPHA:3006
HP:0002011	Morphological central nervous system abnormality	11212	PLPBP	OMIM:617290
HP:0002011	Morphological central nervous system abnormality	84504	NKX6-2	OMIM:617560
HP:0002011	Morphological central nervous system abnormality	283987	HID1	OMIM:619983
HP:0002011	Morphological central nervous system abnormality	56479	KCNQ5	OMIM:617601
HP:0002011	Morphological central nervous system abnormality	23065	EMC1	OMIM:616875
HP:0002011	Morphological central nervous system abnormality	2752	GLUL	OMIM:610015
HP:0002011	Morphological central nervous system abnormality	3737	KCNA2	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	1759	DNM1	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	1759	DNM1	OMIM:620352
HP:0002011	Morphological central nervous system abnormality	8120	AP3B2	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	523	ATP6V1A	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	10991	SLC38A3	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	51343	FZR1	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	3747	KCNC2	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	1917	EEF1A2	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	23219	FBXO28	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	23219	FBXO28	OMIM:619777
HP:0002011	Morphological central nervous system abnormality	2561	GABRB2	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	2558	GABRA5	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	2906	GRIN2D	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	116150	NUS1	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	1213	CLTC	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	51741	WWOX	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	23334	SZT2	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	348980	HCN1	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	25977	NECAP1	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	25977	NECAP1	OMIM:615833
HP:0002011	Morphological central nervous system abnormality	23241	PACS2	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	16	AARS1	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	9568	GABBR2	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	2555	GABRA2	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	55152	DALRD3	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	26999	CYFIP2	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	4915	NTRK2	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	25973	PARS2	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	23097	CDK19	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	2257	FGF12	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	5530	PPP3CA	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	22906	TRAK1	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	7532	YWHAG	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	79876	UBA5	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	6328	SCN3A	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	781	CACNA2D1	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	10659	CELF2	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	774	CACNA1B	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	2290	FOXG1	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	6506	SLC1A2	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	8867	SYNJ1	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	8867	SYNJ1	ORPHA:391411
HP:0002011	Morphological central nervous system abnormality	3745	KCNB1	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	22866	CNKSR2	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	79947	DHDDS	ORPHA:442835
HP:0002011	Morphological central nervous system abnormality	443	ASPA	OMIM:271900
HP:0002011	Morphological central nervous system abnormality	51241	COX16	OMIM:619355
HP:0002011	Morphological central nervous system abnormality	149371	EXOC8	OMIM:619076
HP:0002011	Morphological central nervous system abnormality	10846	PDE10A	ORPHA:494526
HP:0002011	Morphological central nervous system abnormality	3704	ITPA	OMIM:616647
HP:0002011	Morphological central nervous system abnormality	55823	VPS11	OMIM:619637
HP:0002011	Morphological central nervous system abnormality	79751	SLC25A22	OMIM:609304
HP:0002011	Morphological central nervous system abnormality	378884	NHLRC1	ORPHA:501
HP:0002011	Morphological central nervous system abnormality	7957	EPM2A	ORPHA:501
HP:0002011	Morphological central nervous system abnormality	79759	ZNF668	OMIM:620194
HP:0002011	Morphological central nervous system abnormality	9829	DNAJC6	ORPHA:391411
HP:0002011	Morphological central nervous system abnormality	5420	PODXL	ORPHA:391411
HP:0002011	Morphological central nervous system abnormality	51611	DPH5	OMIM:620070
HP:0002011	Morphological central nervous system abnormality	4247	MGAT2	ORPHA:79329
HP:0002011	Morphological central nervous system abnormality	6305	SBF1	OMIM:615284
HP:0002011	Morphological central nervous system abnormality	374354	NHLRC2	OMIM:618278
HP:0002011	Morphological central nervous system abnormality	57570	TRMT5	OMIM:616539
HP:0002011	Morphological central nervous system abnormality	5591	PRKDC	OMIM:615966
HP:0002011	Morphological central nervous system abnormality	539	ATP5PO	OMIM:620359
HP:0002011	Morphological central nervous system abnormality	8911	CACNA1I	OMIM:620114
HP:0002011	Morphological central nervous system abnormality	91949	COG7	ORPHA:79333
HP:0002011	Morphological central nervous system abnormality	84628	NTNG2	OMIM:618718
HP:0002011	Morphological central nervous system abnormality	3181	HNRNPA2B1	ORPHA:52430
HP:0002011	Morphological central nervous system abnormality	4677	NARS1	OMIM:619092
HP:0002011	Morphological central nervous system abnormality	50628	GEMIN4	OMIM:617913
HP:0002011	Morphological central nervous system abnormality	875	CBS	OMIM:236200
HP:0002011	Morphological central nervous system abnormality	6509	SLC1A4	ORPHA:447997
HP:0002011	Morphological central nervous system abnormality	2801	GOLGA2	OMIM:620240
HP:0002011	Morphological central nervous system abnormality	5654	HTRA1	OMIM:600142
HP:0002011	Morphological central nervous system abnormality	6567	SLC16A2	ORPHA:59
HP:0002011	Morphological central nervous system abnormality	55181	SMG8	OMIM:619268
HP:0002011	Morphological central nervous system abnormality	63925	ZNF335	ORPHA:329228
HP:0002011	Morphological central nervous system abnormality	22930	RAB3GAP1	OMIM:619420
HP:0002011	Morphological central nervous system abnormality	8625	RFXANK	OMIM:620815
HP:0002011	Morphological central nervous system abnormality	84153	RNASEH2C	ORPHA:51
HP:0002011	Morphological central nervous system abnormality	25939	SAMHD1	ORPHA:51
HP:0002011	Morphological central nervous system abnormality	79621	RNASEH2B	ORPHA:51
HP:0002011	Morphological central nervous system abnormality	100147744	RNU7-1	ORPHA:51
HP:0002011	Morphological central nervous system abnormality	64135	IFIH1	ORPHA:51
HP:0002011	Morphological central nervous system abnormality	5813	PURA	ORPHA:314655
HP:0002011	Morphological central nervous system abnormality	50640	PNPLA8	OMIM:251950
HP:0002011	Morphological central nervous system abnormality	1719	DHFR	OMIM:613839
HP:0002011	Morphological central nervous system abnormality	4488	MSX2	ORPHA:60015
HP:0002011	Morphological central nervous system abnormality	51284	TLR7	OMIM:301080
HP:0002011	Morphological central nervous system abnormality	4791	NFKB2	ORPHA:293978
HP:0002011	Morphological central nervous system abnormality	9394	HS6ST1	OMIM:614880
HP:0002011	Morphological central nervous system abnormality	23031	MAST3	OMIM:620115
HP:0002011	Morphological central nervous system abnormality	2693	GHSR	OMIM:615925
HP:0002011	Morphological central nervous system abnormality	23299	BICD2	OMIM:618291
HP:0002011	Morphological central nervous system abnormality	2898	GRIK2	OMIM:619580
HP:0002011	Morphological central nervous system abnormality	129285	PPP1R21	OMIM:619383
HP:0002011	Morphological central nervous system abnormality	84823	LMNB2	OMIM:619180
HP:0002011	Morphological central nervous system abnormality	4001	LMNB1	OMIM:619179
HP:0002011	Morphological central nervous system abnormality	10617	STAMBP	OMIM:614261
HP:0002011	Morphological central nervous system abnormality	8567	MADD	OMIM:619004
HP:0002011	Morphological central nervous system abnormality	8567	MADD	OMIM:619005
HP:0002011	Morphological central nervous system abnormality	23404	EXOSC2	OMIM:617763
HP:0002011	Morphological central nervous system abnormality	200424	TET3	OMIM:618798
HP:0002011	Morphological central nervous system abnormality	8021	NUP214	OMIM:618426
HP:0002011	Morphological central nervous system abnormality	51112	TRAPPC12	OMIM:617669
HP:0002011	Morphological central nervous system abnormality	4953	ODC1	OMIM:619075
HP:0002011	Morphological central nervous system abnormality	4953	ODC1	ORPHA:544488
HP:0002011	Morphological central nervous system abnormality	6477	SIAH1	OMIM:619314
HP:0002011	Morphological central nervous system abnormality	54453	RIN2	OMIM:613075
HP:0002011	Morphological central nervous system abnormality	2019	EN1	OMIM:619218
HP:0002011	Morphological central nervous system abnormality	23230	VPS13A	ORPHA:2388
HP:0002011	Morphological central nervous system abnormality	1356	CP	ORPHA:48818
HP:0002011	Morphological central nervous system abnormality	1384	CRAT	OMIM:617917
HP:0002011	Morphological central nervous system abnormality	5718	PSMD12	OMIM:617516
HP:0002011	Morphological central nervous system abnormality	5718	PSMD12	ORPHA:529962
HP:0002011	Morphological central nervous system abnormality	11023	VAX1	OMIM:614402
HP:0002011	Morphological central nervous system abnormality	8831	SYNGAP1	ORPHA:544254
HP:0002011	Morphological central nervous system abnormality	284098	PIGW	OMIM:616025
HP:0002011	Morphological central nervous system abnormality	26128	KIFBP	OMIM:609460
HP:0002011	Morphological central nervous system abnormality	9526	MPDU1	ORPHA:79323
HP:0002011	Morphological central nervous system abnormality	1523	CUX1	OMIM:618330
HP:0002011	Morphological central nervous system abnormality	1841	DTYMK	OMIM:619847
HP:0002011	Morphological central nervous system abnormality	6638	SNRPN	ORPHA:177907
HP:0002011	Morphological central nervous system abnormality	2902	GRIN1	ORPHA:208447
HP:0002011	Morphological central nervous system abnormality	161725	OTUD7A	OMIM:620790
HP:0002011	Morphological central nervous system abnormality	23474	ETHE1	ORPHA:51188
HP:0002011	Morphological central nervous system abnormality	91574	MTRFR	ORPHA:254930
HP:0002011	Morphological central nervous system abnormality	3658	IREB2	OMIM:618451
HP:0002011	Morphological central nervous system abnormality	10398	MYL9	OMIM:619365
HP:0002011	Morphological central nervous system abnormality	344167	FOXI3	OMIM:620444
HP:0002011	Morphological central nervous system abnormality	5805	PTS	OMIM:261640
HP:0002011	Morphological central nervous system abnormality	1644	DDC	ORPHA:35708
HP:0002011	Morphological central nervous system abnormality	23395	LARS2	OMIM:615300
HP:0002011	Morphological central nervous system abnormality	5426	POLE	ORPHA:447877
HP:0002011	Morphological central nervous system abnormality	5424	POLD1	ORPHA:447877
HP:0002011	Morphological central nervous system abnormality	7373	COL14A1	ORPHA:79501
HP:0002011	Morphological central nervous system abnormality	79719	AAGAB	ORPHA:79501
HP:0002011	Morphological central nervous system abnormality	1906	EDN1	ORPHA:137888
HP:0002011	Morphological central nervous system abnormality	2773	GNAI3	ORPHA:137888
HP:0002011	Morphological central nervous system abnormality	55770	EXOC2	OMIM:619306
HP:0002011	Morphological central nervous system abnormality	55788	LMBRD1	ORPHA:79284
HP:0002011	Morphological central nervous system abnormality	79853	TM4SF20	OMIM:615432
HP:0002011	Morphological central nervous system abnormality	4762	NEUROG1	OMIM:620469
HP:0002011	Morphological central nervous system abnormality	5058	PAK1	OMIM:618158
HP:0002011	Morphological central nervous system abnormality	7920	ABHD16A	OMIM:619735
HP:0002011	Morphological central nervous system abnormality	10060	ABCC9	OMIM:619719
HP:0002011	Morphological central nervous system abnormality	3514	IGKC	ORPHA:183675
HP:0002011	Morphological central nervous system abnormality	3501	IGHG2	ORPHA:183675
HP:0002011	Morphological central nervous system abnormality	26523	AGO1	OMIM:620292
HP:0002011	Morphological central nervous system abnormality	7276	TTR	OMIM:105210
HP:0002011	Morphological central nervous system abnormality	3574	IL7	OMIM:618309
HP:0002011	Morphological central nervous system abnormality	1000	CDH2	OMIM:618929
HP:0002011	Morphological central nervous system abnormality	9692	PRORP	OMIM:619737
HP:0002011	Morphological central nervous system abnormality	22859	ADGRL1	OMIM:620065
HP:0002011	Morphological central nervous system abnormality	1284	COL4A2	OMIM:614483
HP:0002011	Morphological central nervous system abnormality	2065	ERBB3	OMIM:243180
HP:0002011	Morphological central nervous system abnormality	60675	PROK2	OMIM:610628
HP:0002011	Morphological central nervous system abnormality	23446	SLC44A1	OMIM:618868
HP:0002011	Morphological central nervous system abnormality	84334	COA8	OMIM:619061
HP:0002011	Morphological central nervous system abnormality	1327	COX4I1	OMIM:619060
HP:0002011	Morphological central nervous system abnormality	939	CD27	OMIM:615122
HP:0002011	Morphological central nervous system abnormality	490	ATP2B1	OMIM:619910
HP:0002011	Morphological central nervous system abnormality	6900	CNTN2	OMIM:615400
HP:0002011	Morphological central nervous system abnormality	1855	DVL1	OMIM:616331
HP:0002011	Morphological central nervous system abnormality	26175	LYSET	OMIM:619345
HP:0002011	Morphological central nervous system abnormality	51163	DBR1	OMIM:619441
HP:0002011	Morphological central nervous system abnormality	1725	DHPS	OMIM:618480
HP:0002011	Morphological central nervous system abnormality	540	ATP7B	OMIM:277900
HP:0002011	Morphological central nervous system abnormality	1436	CSF1R	OMIM:221820
HP:0002011	Morphological central nervous system abnormality	91801	ALKBH8	OMIM:618504
HP:0002011	Morphological central nervous system abnormality	1317	SLC31A1	OMIM:620306
HP:0002011	Morphological central nervous system abnormality	116519	APOA5	OMIM:145750
HP:0002011	Morphological central nervous system abnormality	4792	NFKBIA	ORPHA:98813
HP:0002011	Morphological central nervous system abnormality	51119	SBDS	ORPHA:811
HP:0002011	Morphological central nervous system abnormality	8622	PDE8B	OMIM:609161
HP:0002011	Morphological central nervous system abnormality	5455	POU3F3	OMIM:618604
HP:0002011	Morphological central nervous system abnormality	10371	SEMA3A	OMIM:614897
HP:0002011	Morphological central nervous system abnormality	170825	GSX2	OMIM:618646
HP:0002011	Morphological central nervous system abnormality	23347	SMCHD1	ORPHA:2250
HP:0002011	Morphological central nervous system abnormality	93986	FOXP2	ORPHA:251061
HP:0002011	Morphological central nervous system abnormality	54704	PDP1	ORPHA:79246
HP:0002011	Morphological central nervous system abnormality	1053	CEBPE	OMIM:245480
HP:0002011	Morphological central nervous system abnormality	999	CDH1	OMIM:119580
HP:0002011	Morphological central nervous system abnormality	26040	SETBP1	ORPHA:798
HP:0002011	Morphological central nervous system abnormality	2643	GCH1	ORPHA:98808
HP:0002011	Morphological central nervous system abnormality	3615	IMPDH2	ORPHA:98808
HP:0002011	Morphological central nervous system abnormality	1908	EDN3	ORPHA:661
HP:0002011	Morphological central nervous system abnormality	2668	GDNF	ORPHA:661
HP:0002011	Morphological central nervous system abnormality	627	BDNF	ORPHA:661
HP:0002011	Morphological central nervous system abnormality	10660	LBX1	ORPHA:661
HP:0002011	Morphological central nervous system abnormality	283446	MYO1H	ORPHA:661
HP:0002011	Morphological central nervous system abnormality	8929	PHOX2B	ORPHA:661
HP:0002011	Morphological central nervous system abnormality	10483	SEC23B	ORPHA:201
HP:0002011	Morphological central nervous system abnormality	5728	PTEN	ORPHA:201
HP:0002011	Morphological central nervous system abnormality	6390	SDHB	ORPHA:201
HP:0002011	Morphological central nervous system abnormality	6392	SDHD	ORPHA:201
HP:0002011	Morphological central nervous system abnormality	6391	SDHC	ORPHA:201
HP:0002011	Morphological central nervous system abnormality	207	AKT1	ORPHA:201
HP:0002011	Morphological central nervous system abnormality	207	AKT1	ORPHA:744
HP:0002011	Morphological central nervous system abnormality	205717	USF3	ORPHA:201
HP:0002011	Morphological central nervous system abnormality	5290	PIK3CA	ORPHA:201
HP:0002011	Morphological central nervous system abnormality	100144748	KLLN	ORPHA:201
HP:0002011	Morphological central nervous system abnormality	2048	EPHB2	OMIM:603688
HP:0002011	Morphological central nervous system abnormality	2130	EWSR1	ORPHA:83469
HP:0002011	Morphological central nervous system abnormality	7490	WT1	ORPHA:83469
HP:0002011	Morphological central nervous system abnormality	324	APC	ORPHA:99818
HP:0002011	Morphological central nervous system abnormality	161742	SPRED1	ORPHA:137605
HP:0002011	Morphological central nervous system abnormality	7157	TP53	ORPHA:524
HP:0002011	Morphological central nervous system abnormality	1029	CDKN2A	ORPHA:524
HP:0002011	Morphological central nervous system abnormality	4193	MDM2	ORPHA:524
HP:0002011	Morphological central nervous system abnormality	11200	CHEK2	ORPHA:524
HP:0002011	Morphological central nervous system abnormality	1301	COL11A1	OMIM:154780
HP:0002011	Morphological central nervous system abnormality	819	CAMLG	OMIM:620201
HP:0002011	Morphological central nervous system abnormality	51651	PTRH2	ORPHA:456312
HP:0002011	Morphological central nervous system abnormality	1785	DNM2	OMIM:615368
HP:0002011	Morphological central nervous system abnormality	6620	SNCB	OMIM:127750
HP:0002011	Morphological central nervous system abnormality	56978	PRDM8	ORPHA:324290
HP:0002011	Morphological central nervous system abnormality	56978	PRDM8	OMIM:616640
HP:0002011	Morphological central nervous system abnormality	51218	GLRX5	ORPHA:401866
HP:0002011	Morphological central nervous system abnormality	11235	PDCD10	ORPHA:221061
HP:0002011	Morphological central nervous system abnormality	83605	CCM2	ORPHA:221061
HP:0002011	Morphological central nervous system abnormality	889	KRIT1	ORPHA:221061
HP:0002011	Morphological central nervous system abnormality	2658	GDF2	ORPHA:774
HP:0002011	Morphological central nervous system abnormality	4089	SMAD4	ORPHA:774
HP:0002011	Morphological central nervous system abnormality	5116	PCNT	ORPHA:2637
HP:0002011	Morphological central nervous system abnormality	9820	CUL7	ORPHA:2616
HP:0002011	Morphological central nervous system abnormality	23363	OBSL1	ORPHA:2616
HP:0002011	Morphological central nervous system abnormality	83987	CCDC8	ORPHA:2616
HP:0002011	Morphological central nervous system abnormality	59	ACTA2	ORPHA:2573
HP:0002011	Morphological central nervous system abnormality	57674	RNF213	ORPHA:2573
HP:0002011	Morphological central nervous system abnormality	5627	PROS1	ORPHA:743
HP:0002011	Morphological central nervous system abnormality	5624	PROC	ORPHA:745
HP:0002011	Morphological central nervous system abnormality	56922	MCCC1	ORPHA:6
HP:0002011	Morphological central nervous system abnormality	64087	MCCC2	ORPHA:6
HP:0002011	Morphological central nervous system abnormality	2982	GUCY1A1	ORPHA:401945
HP:0002011	Morphological central nervous system abnormality	10019	SH2B3	ORPHA:3318
HP:0002011	Morphological central nervous system abnormality	811	CALR	ORPHA:3318
HP:0002011	Morphological central nervous system abnormality	4352	MPL	ORPHA:3318
HP:0002011	Morphological central nervous system abnormality	3717	JAK2	ORPHA:3318
HP:0002011	Morphological central nervous system abnormality	54790	TET2	ORPHA:3318
HP:0002011	Morphological central nervous system abnormality	84168	ANTXR1	ORPHA:2067
HP:0002011	Morphological central nervous system abnormality	5167	ENPP1	ORPHA:758
HP:0002011	Morphological central nervous system abnormality	368	ABCC6	ORPHA:758
HP:0002011	Morphological central nervous system abnormality	326	AIRE	ORPHA:3453
HP:0002011	Morphological central nervous system abnormality	57169	ZNFX1	OMIM:619644
HP:0002011	Morphological central nervous system abnormality	51726	DNAJB11	ORPHA:730
HP:0002011	Morphological central nervous system abnormality	23193	GANAB	ORPHA:730
HP:0002011	Morphological central nervous system abnormality	5310	PKD1	ORPHA:730
HP:0002011	Morphological central nervous system abnormality	5311	PKD2	ORPHA:730
HP:0002011	Morphological central nervous system abnormality	29880	ALG5	ORPHA:730
HP:0002011	Morphological central nervous system abnormality	80114	BICC1	ORPHA:730
HP:0002011	Morphological central nervous system abnormality	537	ATP6AP1	OMIM:300972
HP:0002011	Morphological central nervous system abnormality	63929	XPNPEP3	OMIM:613159
HP:0002011	Morphological central nervous system abnormality	26278	SACS	ORPHA:98
HP:0002011	Morphological central nervous system abnormality	2202	EFEMP1	OMIM:620780
HP:0002011	Morphological central nervous system abnormality	64218	SEMA4A	ORPHA:440437
HP:0002011	Morphological central nervous system abnormality	472	ATM	ORPHA:440437
HP:0002011	Morphological central nervous system abnormality	657	BMPR1A	ORPHA:440437
HP:0002011	Morphological central nervous system abnormality	6224	RPS20	ORPHA:440437
HP:0002011	Morphological central nervous system abnormality	4595	MUTYH	ORPHA:440437
HP:0002011	Morphological central nervous system abnormality	4072	EPCAM	ORPHA:144
HP:0002011	Morphological central nervous system abnormality	2956	MSH6	ORPHA:144
HP:0002011	Morphological central nervous system abnormality	5378	PMS1	ORPHA:144
HP:0002011	Morphological central nervous system abnormality	4436	MSH2	ORPHA:144
HP:0002011	Morphological central nervous system abnormality	9508	ADAMTS3	ORPHA:2136
HP:0002011	Morphological central nervous system abnormality	147372	CCBE1	ORPHA:2136
HP:0002011	Morphological central nervous system abnormality	4952	OCRL	ORPHA:534
HP:0002011	Morphological central nervous system abnormality	51057	WDPCP	ORPHA:1338
HP:0002011	Morphological central nervous system abnormality	55717	WDR11	ORPHA:95496
HP:0002011	Morphological central nervous system abnormality	23432	GPR161	ORPHA:95496
HP:0002011	Morphological central nervous system abnormality	4361	MRE11	ORPHA:251347
HP:0002011	Morphological central nervous system abnormality	3661	IRF3	OMIM:616532
HP:0002011	Morphological central nervous system abnormality	22934	RPIA	OMIM:608611
HP:0002011	Morphological central nervous system abnormality	57094	CPA6	OMIM:614418
HP:0002011	Morphological central nervous system abnormality	275	AMT	OMIM:620398
HP:0002011	Morphological central nervous system abnormality	6558	SLC12A2	OMIM:619080
HP:0002011	Morphological central nervous system abnormality	6850	SYK	OMIM:619381
HP:0002011	Morphological central nervous system abnormality	8893	EIF2B5	OMIM:620315
HP:0002011	Morphological central nervous system abnormality	51704	GPRC5B	OMIM:620447
HP:0002011	Morphological central nervous system abnormality	361	AQP4	OMIM:620448
HP:0002011	Morphological central nervous system abnormality	57728	WDR19	OMIM:614378
HP:0002406	Limb dysmetria	3708	ITPR1	OMIM:606658
HP:0002406	Limb dysmetria	3708	ITPR1	OMIM:117360
HP:0002406	Limb dysmetria	5521	PPP2R2B	ORPHA:98762
HP:0002406	Limb dysmetria	9420	CYP7B1	OMIM:270800
HP:0002406	Limb dysmetria	463	ZFHX3	OMIM:600223
HP:0002406	Limb dysmetria	3748	KCNC3	OMIM:605259
HP:0002406	Limb dysmetria	9897	WASHC5	ORPHA:100989
HP:0002406	Limb dysmetria	1600	DAB1	ORPHA:363710
HP:0002406	Limb dysmetria	50484	RRM2B	ORPHA:329336
HP:0002406	Limb dysmetria	246243	RNASEH1	ORPHA:329336
HP:0002406	Limb dysmetria	2911	GRM1	ORPHA:324262
HP:0002406	Limb dysmetria	6575	SLC20A2	OMIM:213600
HP:0002406	Limb dysmetria	5159	PDGFRB	OMIM:213600
HP:0002406	Limb dysmetria	5155	PDGFB	OMIM:213600
HP:0002406	Limb dysmetria	57704	GBA2	OMIM:614409
HP:0002406	Limb dysmetria	5428	POLG	ORPHA:94125
HP:0002406	Limb dysmetria	4763	NF1	ORPHA:363700
HP:0002069	Bilateral tonic-clonic seizure	401474	SAMD12	OMIM:601068
HP:0002069	Bilateral tonic-clonic seizure	4524	MTHFR	ORPHA:395
HP:0002069	Bilateral tonic-clonic seizure	6513	SLC2A1	ORPHA:64280
HP:0002069	Bilateral tonic-clonic seizure	6513	SLC2A1	OMIM:614847
HP:0002069	Bilateral tonic-clonic seizure	6513	SLC2A1	ORPHA:53583
HP:0002069	Bilateral tonic-clonic seizure	2562	GABRB3	ORPHA:64280
HP:0002069	Bilateral tonic-clonic seizure	2562	GABRB3	ORPHA:2382
HP:0002069	Bilateral tonic-clonic seizure	2562	GABRB3	OMIM:617113
HP:0002069	Bilateral tonic-clonic seizure	2554	GABRA1	ORPHA:64280
HP:0002069	Bilateral tonic-clonic seizure	8912	CACNA1H	ORPHA:64280
HP:0002069	Bilateral tonic-clonic seizure	8629	JRK	ORPHA:64280
HP:0002069	Bilateral tonic-clonic seizure	2566	GABRG2	ORPHA:64280
HP:0002069	Bilateral tonic-clonic seizure	2566	GABRG2	ORPHA:36387
HP:0002069	Bilateral tonic-clonic seizure	2566	GABRG2	OMIM:607681
HP:0002069	Bilateral tonic-clonic seizure	2566	GABRG2	OMIM:618396
HP:0002069	Bilateral tonic-clonic seizure	26960	NBEA	OMIM:619157
HP:0002069	Bilateral tonic-clonic seizure	81555	YIPF5	OMIM:619278
HP:0002069	Bilateral tonic-clonic seizure	340533	NEXMIF	OMIM:300912
HP:0002069	Bilateral tonic-clonic seizure	776	CACNA1D	OMIM:615474
HP:0002069	Bilateral tonic-clonic seizure	776	CACNA1D	ORPHA:369929
HP:0002069	Bilateral tonic-clonic seizure	57468	SLC12A5	OMIM:616685
HP:0002069	Bilateral tonic-clonic seizure	57468	SLC12A5	ORPHA:293181
HP:0002069	Bilateral tonic-clonic seizure	1493	CTLA4	ORPHA:436159
HP:0002069	Bilateral tonic-clonic seizure	23241	PACS2	OMIM:618067
HP:0002069	Bilateral tonic-clonic seizure	2904	GRIN2B	OMIM:613970
HP:0002069	Bilateral tonic-clonic seizure	2904	GRIN2B	OMIM:616139
HP:0002069	Bilateral tonic-clonic seizure	785	CACNB4	OMIM:613855
HP:0002069	Bilateral tonic-clonic seizure	785	CACNB4	OMIM:607682
HP:0002069	Bilateral tonic-clonic seizure	2997	GYS1	OMIM:611556
HP:0002069	Bilateral tonic-clonic seizure	55325	UFSP2	OMIM:620028
HP:0002069	Bilateral tonic-clonic seizure	81570	CLPB	OMIM:619835
HP:0002069	Bilateral tonic-clonic seizure	55733	HHAT	OMIM:600092
HP:0002069	Bilateral tonic-clonic seizure	6326	SCN2A	ORPHA:293181
HP:0002069	Bilateral tonic-clonic seizure	6326	SCN2A	ORPHA:140927
HP:0002069	Bilateral tonic-clonic seizure	6326	SCN2A	ORPHA:36387
HP:0002069	Bilateral tonic-clonic seizure	6326	SCN2A	ORPHA:1934
HP:0002069	Bilateral tonic-clonic seizure	6326	SCN2A	ORPHA:306
HP:0002069	Bilateral tonic-clonic seizure	6326	SCN2A	OMIM:618924
HP:0002069	Bilateral tonic-clonic seizure	6326	SCN2A	OMIM:607745
HP:0002069	Bilateral tonic-clonic seizure	6326	SCN2A	OMIM:613721
HP:0002069	Bilateral tonic-clonic seizure	23236	PLCB1	ORPHA:293181
HP:0002069	Bilateral tonic-clonic seizure	23236	PLCB1	OMIM:613722
HP:0002069	Bilateral tonic-clonic seizure	3785	KCNQ2	ORPHA:293181
HP:0002069	Bilateral tonic-clonic seizure	3785	KCNQ2	ORPHA:140927
HP:0002069	Bilateral tonic-clonic seizure	3785	KCNQ2	ORPHA:306
HP:0002069	Bilateral tonic-clonic seizure	3785	KCNQ2	OMIM:121200
HP:0002069	Bilateral tonic-clonic seizure	57582	KCNT1	ORPHA:293181
HP:0002069	Bilateral tonic-clonic seizure	57582	KCNT1	ORPHA:98784
HP:0002069	Bilateral tonic-clonic seizure	5277	PIGA	ORPHA:293181
HP:0002069	Bilateral tonic-clonic seizure	5277	PIGA	OMIM:300868
HP:0002069	Bilateral tonic-clonic seizure	6323	SCN1A	ORPHA:293181
HP:0002069	Bilateral tonic-clonic seizure	6323	SCN1A	ORPHA:2382
HP:0002069	Bilateral tonic-clonic seizure	6323	SCN1A	ORPHA:36387
HP:0002069	Bilateral tonic-clonic seizure	6323	SCN1A	OMIM:604403
HP:0002069	Bilateral tonic-clonic seizure	6323	SCN1A	OMIM:607208
HP:0002069	Bilateral tonic-clonic seizure	6323	SCN1A	OMIM:619317
HP:0002069	Bilateral tonic-clonic seizure	79751	SLC25A22	ORPHA:293181
HP:0002069	Bilateral tonic-clonic seizure	79751	SLC25A22	ORPHA:1934
HP:0002069	Bilateral tonic-clonic seizure	57465	TBC1D24	ORPHA:293181
HP:0002069	Bilateral tonic-clonic seizure	57465	TBC1D24	OMIM:608105
HP:0002069	Bilateral tonic-clonic seizure	57465	TBC1D24	ORPHA:352582
HP:0002069	Bilateral tonic-clonic seizure	57465	TBC1D24	OMIM:605021
HP:0002069	Bilateral tonic-clonic seizure	57465	TBC1D24	ORPHA:79500
HP:0002069	Bilateral tonic-clonic seizure	51343	FZR1	OMIM:620145
HP:0002069	Bilateral tonic-clonic seizure	10159	ATP6AP2	ORPHA:93952
HP:0002069	Bilateral tonic-clonic seizure	10159	ATP6AP2	OMIM:300423
HP:0002069	Bilateral tonic-clonic seizure	64324	NSD1	ORPHA:821
HP:0002069	Bilateral tonic-clonic seizure	10297	APC2	ORPHA:821
HP:0002069	Bilateral tonic-clonic seizure	501	ALDH7A1	OMIM:266100
HP:0002069	Bilateral tonic-clonic seizure	154881	KCTD7	ORPHA:263516
HP:0002069	Bilateral tonic-clonic seizure	4535	MT-ND1	ORPHA:255210
HP:0002069	Bilateral tonic-clonic seizure	4535	MT-ND1	OMIM:540000
HP:0002069	Bilateral tonic-clonic seizure	4535	MT-ND1	ORPHA:550
HP:0002069	Bilateral tonic-clonic seizure	4536	MT-ND2	ORPHA:255210
HP:0002069	Bilateral tonic-clonic seizure	4537	MT-ND3	ORPHA:255210
HP:0002069	Bilateral tonic-clonic seizure	4538	MT-ND4	ORPHA:255210
HP:0002069	Bilateral tonic-clonic seizure	4538	MT-ND4	ORPHA:550
HP:0002069	Bilateral tonic-clonic seizure	4567	MT-TL1	ORPHA:255210
HP:0002069	Bilateral tonic-clonic seizure	4567	MT-TL1	OMIM:540000
HP:0002069	Bilateral tonic-clonic seizure	4567	MT-TL1	ORPHA:550
HP:0002069	Bilateral tonic-clonic seizure	4578	MT-TW	ORPHA:255210
HP:0002069	Bilateral tonic-clonic seizure	4578	MT-TW	OMIM:540000
HP:0002069	Bilateral tonic-clonic seizure	4578	MT-TW	ORPHA:550
HP:0002069	Bilateral tonic-clonic seizure	4577	MT-TV	ORPHA:255210
HP:0002069	Bilateral tonic-clonic seizure	4577	MT-TV	OMIM:540000
HP:0002069	Bilateral tonic-clonic seizure	4508	MT-ATP6	ORPHA:255210
HP:0002069	Bilateral tonic-clonic seizure	4540	MT-ND5	ORPHA:255210
HP:0002069	Bilateral tonic-clonic seizure	4540	MT-ND5	OMIM:540000
HP:0002069	Bilateral tonic-clonic seizure	4540	MT-ND5	ORPHA:550
HP:0002069	Bilateral tonic-clonic seizure	4541	MT-ND6	ORPHA:255210
HP:0002069	Bilateral tonic-clonic seizure	4541	MT-ND6	OMIM:540000
HP:0002069	Bilateral tonic-clonic seizure	4541	MT-ND6	ORPHA:550
HP:0002069	Bilateral tonic-clonic seizure	4566	MT-TK	ORPHA:255210
HP:0002069	Bilateral tonic-clonic seizure	4566	MT-TK	OMIM:540000
HP:0002069	Bilateral tonic-clonic seizure	2593	GAMT	ORPHA:382
HP:0002069	Bilateral tonic-clonic seizure	2593	GAMT	OMIM:612736
HP:0002069	Bilateral tonic-clonic seizure	80232	WDR26	ORPHA:513456
HP:0002069	Bilateral tonic-clonic seizure	2563	GABRD	OMIM:613060
HP:0002069	Bilateral tonic-clonic seizure	2563	GABRD	ORPHA:36387
HP:0002069	Bilateral tonic-clonic seizure	387119	CEP85L	OMIM:618873
HP:0002069	Bilateral tonic-clonic seizure	24137	KIF4A	OMIM:300923
HP:0002069	Bilateral tonic-clonic seizure	51741	WWOX	OMIM:616211
HP:0002069	Bilateral tonic-clonic seizure	51741	WWOX	OMIM:614322
HP:0002069	Bilateral tonic-clonic seizure	8722	CTSF	OMIM:615362
HP:0002069	Bilateral tonic-clonic seizure	2782	GNB1	ORPHA:488613
HP:0002069	Bilateral tonic-clonic seizure	2782	GNB1	OMIM:616973
HP:0002069	Bilateral tonic-clonic seizure	477	ATP1A2	OMIM:619605
HP:0002069	Bilateral tonic-clonic seizure	477	ATP1A2	OMIM:602481
HP:0002069	Bilateral tonic-clonic seizure	477	ATP1A2	ORPHA:2131
HP:0002069	Bilateral tonic-clonic seizure	477	ATP1A2	OMIM:104290
HP:0002069	Bilateral tonic-clonic seizure	55689	YEATS2	OMIM:615127
HP:0002069	Bilateral tonic-clonic seizure	6487	ST3GAL3	OMIM:615006
HP:0002069	Bilateral tonic-clonic seizure	1106	CHD2	OMIM:615369
HP:0002069	Bilateral tonic-clonic seizure	1106	CHD2	ORPHA:2382
HP:0002069	Bilateral tonic-clonic seizure	478	ATP1A3	OMIM:619606
HP:0002069	Bilateral tonic-clonic seizure	478	ATP1A3	ORPHA:2131
HP:0002069	Bilateral tonic-clonic seizure	54982	CLN6	OMIM:204300
HP:0002069	Bilateral tonic-clonic seizure	10565	ARFGEF1	OMIM:619964
HP:0002069	Bilateral tonic-clonic seizure	80055	PGAP1	OMIM:615802
HP:0002069	Bilateral tonic-clonic seizure	3781	KCNN2	OMIM:619725
HP:0002069	Bilateral tonic-clonic seizure	9915	ARNT2	OMIM:615926
HP:0002069	Bilateral tonic-clonic seizure	1476	CSTB	OMIM:254800
HP:0002069	Bilateral tonic-clonic seizure	846	CASR	OMIM:612899
HP:0002069	Bilateral tonic-clonic seizure	284403	WDR62	OMIM:604317
HP:0002069	Bilateral tonic-clonic seizure	4574	MT-TS1	OMIM:540000
HP:0002069	Bilateral tonic-clonic seizure	4574	MT-TS1	ORPHA:550
HP:0002069	Bilateral tonic-clonic seizure	4575	MT-TS2	OMIM:540000
HP:0002069	Bilateral tonic-clonic seizure	4575	MT-TS2	ORPHA:550
HP:0002069	Bilateral tonic-clonic seizure	4512	MT-CO1	OMIM:540000
HP:0002069	Bilateral tonic-clonic seizure	4512	MT-CO1	ORPHA:550
HP:0002069	Bilateral tonic-clonic seizure	4513	MT-CO2	OMIM:540000
HP:0002069	Bilateral tonic-clonic seizure	4513	MT-CO2	ORPHA:550
HP:0002069	Bilateral tonic-clonic seizure	4514	MT-CO3	OMIM:540000
HP:0002069	Bilateral tonic-clonic seizure	4514	MT-CO3	ORPHA:550
HP:0002069	Bilateral tonic-clonic seizure	4519	MT-CYB	OMIM:540000
HP:0002069	Bilateral tonic-clonic seizure	4511	MT-TC	OMIM:540000
HP:0002069	Bilateral tonic-clonic seizure	4572	MT-TQ	OMIM:540000
HP:0002069	Bilateral tonic-clonic seizure	4572	MT-TQ	ORPHA:550
HP:0002069	Bilateral tonic-clonic seizure	4558	MT-TF	OMIM:540000
HP:0002069	Bilateral tonic-clonic seizure	4558	MT-TF	ORPHA:550
HP:0002069	Bilateral tonic-clonic seizure	9211	LGI1	OMIM:600512
HP:0002069	Bilateral tonic-clonic seizure	9211	LGI1	ORPHA:101046
HP:0002069	Bilateral tonic-clonic seizure	5649	RELN	OMIM:600512
HP:0002069	Bilateral tonic-clonic seizure	5649	RELN	ORPHA:101046
HP:0002069	Bilateral tonic-clonic seizure	64780	MICAL1	OMIM:600512
HP:0002069	Bilateral tonic-clonic seizure	84992	PIGY	ORPHA:247262
HP:0002069	Bilateral tonic-clonic seizure	84720	PIGO	ORPHA:247262
HP:0002069	Bilateral tonic-clonic seizure	93210	PGAP3	ORPHA:247262
HP:0002069	Bilateral tonic-clonic seizure	93210	PGAP3	OMIM:615716
HP:0002069	Bilateral tonic-clonic seizure	284098	PIGW	ORPHA:247262
HP:0002069	Bilateral tonic-clonic seizure	27315	PGAP2	ORPHA:247262
HP:0002069	Bilateral tonic-clonic seizure	27315	PGAP2	OMIM:614207
HP:0002069	Bilateral tonic-clonic seizure	55650	PIGV	ORPHA:247262
HP:0002069	Bilateral tonic-clonic seizure	9487	PIGL	ORPHA:247262
HP:0002069	Bilateral tonic-clonic seizure	9487	PIGL	OMIM:280000
HP:0002069	Bilateral tonic-clonic seizure	3074	HEXB	ORPHA:309155
HP:0002069	Bilateral tonic-clonic seizure	3074	HEXB	OMIM:268800
HP:0002069	Bilateral tonic-clonic seizure	9698	PUM1	OMIM:620719
HP:0002069	Bilateral tonic-clonic seizure	3899	AFF3	OMIM:619297
HP:0002069	Bilateral tonic-clonic seizure	150094	SIK1	OMIM:616341
HP:0002069	Bilateral tonic-clonic seizure	150094	SIK1	ORPHA:1934
HP:0002069	Bilateral tonic-clonic seizure	535	ATP6V0A1	OMIM:619970
HP:0002069	Bilateral tonic-clonic seizure	1757	SARDH	ORPHA:3129
HP:0002069	Bilateral tonic-clonic seizure	79029	AFG2B	OMIM:619616
HP:0002069	Bilateral tonic-clonic seizure	816	CAMK2B	OMIM:617799
HP:0002069	Bilateral tonic-clonic seizure	815	CAMK2A	OMIM:617798
HP:0002069	Bilateral tonic-clonic seizure	1759	DNM1	OMIM:616346
HP:0002069	Bilateral tonic-clonic seizure	1759	DNM1	ORPHA:2382
HP:0002069	Bilateral tonic-clonic seizure	2770	GNAI1	OMIM:619854
HP:0002069	Bilateral tonic-clonic seizure	2055	CLN8	OMIM:610003
HP:0002069	Bilateral tonic-clonic seizure	1183	CLCN4	ORPHA:485350
HP:0002069	Bilateral tonic-clonic seizure	23732	FRRS1L	ORPHA:725
HP:0002069	Bilateral tonic-clonic seizure	23732	FRRS1L	OMIM:616981
HP:0002069	Bilateral tonic-clonic seizure	2903	GRIN2A	ORPHA:725
HP:0002069	Bilateral tonic-clonic seizure	2903	GRIN2A	ORPHA:289266
HP:0002069	Bilateral tonic-clonic seizure	2903	GRIN2A	ORPHA:98818
HP:0002069	Bilateral tonic-clonic seizure	2903	GRIN2A	OMIM:245570
HP:0002069	Bilateral tonic-clonic seizure	2074	ERCC6	OMIM:278800
HP:0002069	Bilateral tonic-clonic seizure	5428	POLG	ORPHA:726
HP:0002069	Bilateral tonic-clonic seizure	10939	AFG3L2	ORPHA:313772
HP:0002069	Bilateral tonic-clonic seizure	10939	AFG3L2	OMIM:614487
HP:0002069	Bilateral tonic-clonic seizure	8131	NPRL3	ORPHA:98820
HP:0002069	Bilateral tonic-clonic seizure	10641	NPRL2	ORPHA:98820
HP:0002069	Bilateral tonic-clonic seizure	9681	DEPDC5	ORPHA:98820
HP:0002069	Bilateral tonic-clonic seizure	9681	DEPDC5	OMIM:620504
HP:0002069	Bilateral tonic-clonic seizure	9681	DEPDC5	ORPHA:101046
HP:0002069	Bilateral tonic-clonic seizure	9681	DEPDC5	ORPHA:98784
HP:0002069	Bilateral tonic-clonic seizure	10273	STUB1	OMIM:618093
HP:0002069	Bilateral tonic-clonic seizure	26523	AGO1	OMIM:620292
HP:0002069	Bilateral tonic-clonic seizure	57531	HACE1	ORPHA:464282
HP:0002069	Bilateral tonic-clonic seizure	80856	LNPK	OMIM:618090
HP:0002069	Bilateral tonic-clonic seizure	10087	CERT1	OMIM:616351
HP:0002069	Bilateral tonic-clonic seizure	10715	CERS1	OMIM:616230
HP:0002069	Bilateral tonic-clonic seizure	5602	MAPK10	ORPHA:2382
HP:0002069	Bilateral tonic-clonic seizure	773	CACNA1A	ORPHA:2382
HP:0002069	Bilateral tonic-clonic seizure	773	CACNA1A	ORPHA:2131
HP:0002069	Bilateral tonic-clonic seizure	773	CACNA1A	OMIM:617106
HP:0002069	Bilateral tonic-clonic seizure	23316	CUX2	ORPHA:2382
HP:0002069	Bilateral tonic-clonic seizure	23316	CUX2	OMIM:618141
HP:0002069	Bilateral tonic-clonic seizure	283987	HID1	OMIM:619983
HP:0002069	Bilateral tonic-clonic seizure	79152	FA2H	ORPHA:329308
HP:0002069	Bilateral tonic-clonic seizure	4697	NDUFA4	OMIM:619065
HP:0002069	Bilateral tonic-clonic seizure	132158	GLYCTK	OMIM:220120
HP:0002069	Bilateral tonic-clonic seizure	54872	PIGG	ORPHA:488635
HP:0002069	Bilateral tonic-clonic seizure	79813	EHMT1	OMIM:610253
HP:0002069	Bilateral tonic-clonic seizure	1201	CLN3	OMIM:204200
HP:0002069	Bilateral tonic-clonic seizure	23230	VPS13A	ORPHA:2388
HP:0002069	Bilateral tonic-clonic seizure	23230	VPS13A	OMIM:200150
HP:0002069	Bilateral tonic-clonic seizure	23314	SATB2	OMIM:612313
HP:0002069	Bilateral tonic-clonic seizure	4338	MOCS2	OMIM:252160
HP:0002069	Bilateral tonic-clonic seizure	124512	METTL23	OMIM:615942
HP:0002069	Bilateral tonic-clonic seizure	9152	SLC6A5	OMIM:614618
HP:0002069	Bilateral tonic-clonic seizure	112476	PRRT2	OMIM:605751
HP:0002069	Bilateral tonic-clonic seizure	112476	PRRT2	ORPHA:36387
HP:0002069	Bilateral tonic-clonic seizure	112476	PRRT2	ORPHA:306
HP:0002069	Bilateral tonic-clonic seizure	6335	SCN9A	ORPHA:36387
HP:0002069	Bilateral tonic-clonic seizure	112755	STX1B	ORPHA:36387
HP:0002069	Bilateral tonic-clonic seizure	112755	STX1B	OMIM:616172
HP:0002069	Bilateral tonic-clonic seizure	6324	SCN1B	ORPHA:36387
HP:0002069	Bilateral tonic-clonic seizure	6324	SCN1B	OMIM:617350
HP:0002069	Bilateral tonic-clonic seizure	6324	SCN1B	ORPHA:1934
HP:0002069	Bilateral tonic-clonic seizure	6324	SCN1B	OMIM:604233
HP:0002069	Bilateral tonic-clonic seizure	348980	HCN1	ORPHA:36387
HP:0002069	Bilateral tonic-clonic seizure	348980	HCN1	OMIM:615871
HP:0002069	Bilateral tonic-clonic seizure	2258	FGF13	ORPHA:36387
HP:0002069	Bilateral tonic-clonic seizure	2258	FGF13	OMIM:301058
HP:0002069	Bilateral tonic-clonic seizure	84059	ADGRV1	ORPHA:36387
HP:0002069	Bilateral tonic-clonic seizure	84059	ADGRV1	OMIM:604352
HP:0002069	Bilateral tonic-clonic seizure	7915	ALDH5A1	OMIM:271980
HP:0002069	Bilateral tonic-clonic seizure	7915	ALDH5A1	ORPHA:22
HP:0002069	Bilateral tonic-clonic seizure	610	HCN2	OMIM:602477
HP:0002069	Bilateral tonic-clonic seizure	3192	HNRNPU	ORPHA:238769
HP:0002069	Bilateral tonic-clonic seizure	3192	HNRNPU	OMIM:617391
HP:0002069	Bilateral tonic-clonic seizure	5654	HTRA1	ORPHA:199354
HP:0002069	Bilateral tonic-clonic seizure	443	ASPA	OMIM:271900
HP:0002069	Bilateral tonic-clonic seizure	443	ASPA	ORPHA:314911
HP:0002069	Bilateral tonic-clonic seizure	84138	SLC7A6OS	OMIM:619191
HP:0002069	Bilateral tonic-clonic seizure	9895	TECPR2	OMIM:615031
HP:0002069	Bilateral tonic-clonic seizure	1182	CLCN3	OMIM:619512
HP:0002069	Bilateral tonic-clonic seizure	51604	PIGT	OMIM:615398
HP:0002069	Bilateral tonic-clonic seizure	51604	PIGT	ORPHA:369837
HP:0002069	Bilateral tonic-clonic seizure	5063	PAK3	OMIM:300558
HP:0002069	Bilateral tonic-clonic seizure	9354	UBE4A	OMIM:619639
HP:0002069	Bilateral tonic-clonic seizure	2592	GALT	OMIM:230400
HP:0002069	Bilateral tonic-clonic seizure	116115	ZNF526	OMIM:619877
HP:0002069	Bilateral tonic-clonic seizure	7701	ZNF142	OMIM:618425
HP:0002069	Bilateral tonic-clonic seizure	8021	NUP214	OMIM:618426
HP:0002069	Bilateral tonic-clonic seizure	6507	SLC1A3	ORPHA:2131
HP:0002069	Bilateral tonic-clonic seizure	6134	RPL10	ORPHA:459070
HP:0002069	Bilateral tonic-clonic seizure	83475	DOHH	OMIM:620066
HP:0002069	Bilateral tonic-clonic seizure	51611	DPH5	OMIM:620070
HP:0002069	Bilateral tonic-clonic seizure	728294	D2HGDH	OMIM:600721
HP:0002069	Bilateral tonic-clonic seizure	8733	GPAA1	ORPHA:529665
HP:0002069	Bilateral tonic-clonic seizure	8733	GPAA1	OMIM:617810
HP:0002069	Bilateral tonic-clonic seizure	25828	TXN2	ORPHA:478029
HP:0002069	Bilateral tonic-clonic seizure	10991	SLC38A3	OMIM:619881
HP:0002069	Bilateral tonic-clonic seizure	163175	LGI4	OMIM:617468
HP:0002069	Bilateral tonic-clonic seizure	6506	SLC1A2	OMIM:617105
HP:0002069	Bilateral tonic-clonic seizure	23261	CAMTA1	OMIM:614756
HP:0002069	Bilateral tonic-clonic seizure	9772	TMEM94	OMIM:618316
HP:0002069	Bilateral tonic-clonic seizure	9568	GABBR2	OMIM:617904
HP:0002069	Bilateral tonic-clonic seizure	2556	GABRA3	OMIM:301091
HP:0002069	Bilateral tonic-clonic seizure	7846	TUBA1A	ORPHA:171680
HP:0002069	Bilateral tonic-clonic seizure	7846	TUBA1A	OMIM:611603
HP:0002069	Bilateral tonic-clonic seizure	34	ACADM	ORPHA:42
HP:0002069	Bilateral tonic-clonic seizure	23007	PLCH1	OMIM:619895
HP:0002069	Bilateral tonic-clonic seizure	8218	CLTCL1	ORPHA:453510
HP:0002069	Bilateral tonic-clonic seizure	26047	CNTNAP2	OMIM:610042
HP:0002069	Bilateral tonic-clonic seizure	23499	MACF1	OMIM:618325
HP:0002069	Bilateral tonic-clonic seizure	23219	FBXO28	OMIM:619777
HP:0002069	Bilateral tonic-clonic seizure	3930	LBR	OMIM:169400
HP:0002069	Bilateral tonic-clonic seizure	2146	EZH2	OMIM:277590
HP:0002069	Bilateral tonic-clonic seizure	10815	CPLX1	ORPHA:352582
HP:0002069	Bilateral tonic-clonic seizure	10815	CPLX1	OMIM:617976
HP:0002069	Bilateral tonic-clonic seizure	51322	WAC	ORPHA:466950
HP:0002069	Bilateral tonic-clonic seizure	85440	DOCK7	OMIM:615859
HP:0002069	Bilateral tonic-clonic seizure	6509	SLC1A4	ORPHA:447997
HP:0002069	Bilateral tonic-clonic seizure	701	BUB1B	OMIM:257300
HP:0002069	Bilateral tonic-clonic seizure	114327	EFHC1	ORPHA:1941
HP:0002069	Bilateral tonic-clonic seizure	114327	EFHC1	OMIM:254770
HP:0002069	Bilateral tonic-clonic seizure	2742	GLRA2	OMIM:301076
HP:0002069	Bilateral tonic-clonic seizure	9896	FIG4	ORPHA:208441
HP:0002069	Bilateral tonic-clonic seizure	80331	DNAJC5	OMIM:162350
HP:0002069	Bilateral tonic-clonic seizure	51645	PPIL1	OMIM:619301
HP:0002069	Bilateral tonic-clonic seizure	51362	CDC40	OMIM:619302
HP:0002069	Bilateral tonic-clonic seizure	51117	COQ4	OMIM:616276
HP:0002069	Bilateral tonic-clonic seizure	2703	GJA8	OMIM:612474
HP:0002069	Bilateral tonic-clonic seizure	2702	GJA5	OMIM:612474
HP:0002069	Bilateral tonic-clonic seizure	10243	GPHN	OMIM:615501
HP:0002069	Bilateral tonic-clonic seizure	27133	KCNH5	OMIM:620537
HP:0002069	Bilateral tonic-clonic seizure	22858	CILK1	OMIM:617924
HP:0002069	Bilateral tonic-clonic seizure	5910	RAP1GDS1	OMIM:620655
HP:0002069	Bilateral tonic-clonic seizure	81603	TRIM8	OMIM:619428
HP:0002069	Bilateral tonic-clonic seizure	81603	TRIM8	ORPHA:1934
HP:0002069	Bilateral tonic-clonic seizure	140679	SLC32A1	OMIM:620774
HP:0002069	Bilateral tonic-clonic seizure	140679	SLC32A1	ORPHA:1934
HP:0002069	Bilateral tonic-clonic seizure	57094	CPA6	OMIM:614417
HP:0002069	Bilateral tonic-clonic seizure	57094	CPA6	OMIM:614418
HP:0002069	Bilateral tonic-clonic seizure	6792	CDKL5	ORPHA:1934
HP:0002069	Bilateral tonic-clonic seizure	6792	CDKL5	ORPHA:505652
HP:0002069	Bilateral tonic-clonic seizure	3736	KCNA1	ORPHA:1934
HP:0002069	Bilateral tonic-clonic seizure	9091	PIGQ	ORPHA:1934
HP:0002069	Bilateral tonic-clonic seizure	2775	GNAO1	ORPHA:1934
HP:0002069	Bilateral tonic-clonic seizure	2775	GNAO1	OMIM:617493
HP:0002069	Bilateral tonic-clonic seizure	2902	GRIN1	ORPHA:1934
HP:0002069	Bilateral tonic-clonic seizure	2902	GRIN1	ORPHA:208447
HP:0002069	Bilateral tonic-clonic seizure	8573	CASK	ORPHA:1934
HP:0002069	Bilateral tonic-clonic seizure	23312	DMXL2	ORPHA:1934
HP:0002069	Bilateral tonic-clonic seizure	2917	GRM7	ORPHA:1934
HP:0002069	Bilateral tonic-clonic seizure	170302	ARX	ORPHA:1934
HP:0002069	Bilateral tonic-clonic seizure	11284	PNKP	ORPHA:1934
HP:0002069	Bilateral tonic-clonic seizure	51227	PIGP	ORPHA:1934
HP:0002069	Bilateral tonic-clonic seizure	4761	NEUROD2	ORPHA:1934
HP:0002069	Bilateral tonic-clonic seizure	9900	SV2A	OMIM:620772
HP:0002069	Bilateral tonic-clonic seizure	57526	PCDH19	ORPHA:101039
HP:0002069	Bilateral tonic-clonic seizure	57526	PCDH19	OMIM:300088
HP:0002069	Bilateral tonic-clonic seizure	84706	GPT2	OMIM:616281
HP:0002069	Bilateral tonic-clonic seizure	4564	MT-TH	ORPHA:550
HP:0002069	Bilateral tonic-clonic seizure	10059	DNM1L	ORPHA:330050
HP:0002069	Bilateral tonic-clonic seizure	8243	SMC1A	OMIM:301044
HP:0002069	Bilateral tonic-clonic seizure	1173	AP2M1	OMIM:618587
HP:0002069	Bilateral tonic-clonic seizure	56896	DPYSL5	OMIM:619435
HP:0002069	Bilateral tonic-clonic seizure	1859	DYRK1A	ORPHA:268261
HP:0002069	Bilateral tonic-clonic seizure	1859	DYRK1A	OMIM:614104
HP:0002069	Bilateral tonic-clonic seizure	123606	NIPA1	ORPHA:100988
HP:0002069	Bilateral tonic-clonic seizure	11133	KPTN	OMIM:615637
HP:0002069	Bilateral tonic-clonic seizure	6328	SCN3A	OMIM:617935
HP:0002069	Bilateral tonic-clonic seizure	4967	OGDH	OMIM:203740
HP:0002069	Bilateral tonic-clonic seizure	51807	TUBA8	ORPHA:250972
HP:0002069	Bilateral tonic-clonic seizure	3032	HADHB	OMIM:620300
HP:0002069	Bilateral tonic-clonic seizure	6334	SCN8A	ORPHA:306
HP:0002069	Bilateral tonic-clonic seizure	6334	SCN8A	OMIM:614558
HP:0002069	Bilateral tonic-clonic seizure	6334	SCN8A	OMIM:617080
HP:0002069	Bilateral tonic-clonic seizure	3786	KCNQ3	ORPHA:306
HP:0002069	Bilateral tonic-clonic seizure	3786	KCNQ3	OMIM:121201
HP:0002069	Bilateral tonic-clonic seizure	84320	ACBD6	OMIM:620785
HP:0002069	Bilateral tonic-clonic seizure	6709	SPTAN1	OMIM:620540
HP:0002069	Bilateral tonic-clonic seizure	22845	DOLK	ORPHA:91131
HP:0002069	Bilateral tonic-clonic seizure	546	ATRX	OMIM:301040
HP:0002069	Bilateral tonic-clonic seizure	10102	TSFM	OMIM:610505
HP:0002069	Bilateral tonic-clonic seizure	51412	ACTL6B	OMIM:618470
HP:0002069	Bilateral tonic-clonic seizure	5631	PRPS1	ORPHA:423479
HP:0002069	Bilateral tonic-clonic seizure	5515	PPP2CA	OMIM:618354
HP:0002069	Bilateral tonic-clonic seizure	4695	NDUFA2	OMIM:618235
HP:0002069	Bilateral tonic-clonic seizure	6096	RORB	OMIM:618357
HP:0002069	Bilateral tonic-clonic seizure	8867	SYNJ1	OMIM:617389
HP:0002069	Bilateral tonic-clonic seizure	3745	KCNB1	OMIM:616056
HP:0002069	Bilateral tonic-clonic seizure	7453	WARS1	OMIM:620317
HP:0002069	Bilateral tonic-clonic seizure	6900	CNTN2	OMIM:615400
HP:0002069	Bilateral tonic-clonic seizure	5660	PSAP	ORPHA:139406
HP:0002069	Bilateral tonic-clonic seizure	29078	NDUFAF4	OMIM:618237
HP:0002069	Bilateral tonic-clonic seizure	50	ACO2	OMIM:614559
HP:0002069	Bilateral tonic-clonic seizure	6301	SARS1	OMIM:617709
HP:0002069	Bilateral tonic-clonic seizure	3767	KCNJ11	ORPHA:99885
HP:0002069	Bilateral tonic-clonic seizure	3767	KCNJ11	OMIM:618856
HP:0002069	Bilateral tonic-clonic seizure	6774	STAT3	ORPHA:99885
HP:0002069	Bilateral tonic-clonic seizure	2645	GCK	ORPHA:99885
HP:0002069	Bilateral tonic-clonic seizure	3651	PDX1	ORPHA:99885
HP:0002069	Bilateral tonic-clonic seizure	6833	ABCC8	ORPHA:99885
HP:0002069	Bilateral tonic-clonic seizure	3630	INS	ORPHA:99885
HP:0002069	Bilateral tonic-clonic seizure	2891	GRIA2	OMIM:618917
HP:0002069	Bilateral tonic-clonic seizure	3778	KCNMA1	ORPHA:79137
HP:0002069	Bilateral tonic-clonic seizure	8869	ST3GAL5	OMIM:609056
HP:0002069	Bilateral tonic-clonic seizure	6904	TBCD	ORPHA:496641
HP:0002069	Bilateral tonic-clonic seizure	6904	TBCD	OMIM:617193
HP:0002069	Bilateral tonic-clonic seizure	7337	UBE3A	ORPHA:98795
HP:0002069	Bilateral tonic-clonic seizure	4694	NDUFA1	OMIM:301020
HP:0002069	Bilateral tonic-clonic seizure	8925	HERC1	ORPHA:457359
HP:0002069	Bilateral tonic-clonic seizure	79641	ROGDI	OMIM:226750
HP:0002069	Bilateral tonic-clonic seizure	513	ATP5F1D	OMIM:618120
HP:0002069	Bilateral tonic-clonic seizure	8260	NAA10	OMIM:300855
HP:0002069	Bilateral tonic-clonic seizure	3746	KCNC1	OMIM:616187
HP:0002069	Bilateral tonic-clonic seizure	166378	AFG2A	ORPHA:457351
HP:0002069	Bilateral tonic-clonic seizure	5530	PPP3CA	OMIM:617711
HP:0002069	Bilateral tonic-clonic seizure	116150	NUS1	OMIM:617831
HP:0002069	Bilateral tonic-clonic seizure	116150	NUS1	OMIM:617082
HP:0002069	Bilateral tonic-clonic seizure	23229	ARHGEF9	OMIM:300607
HP:0002069	Bilateral tonic-clonic seizure	79947	DHDDS	OMIM:617836
HP:0002069	Bilateral tonic-clonic seizure	84188	FAR1	OMIM:619338
HP:0002069	Bilateral tonic-clonic seizure	29920	PYCR2	ORPHA:481152
HP:0002069	Bilateral tonic-clonic seizure	3183	HNRNPC	OMIM:620688
HP:0002069	Bilateral tonic-clonic seizure	686	BTD	ORPHA:79241
HP:0002069	Bilateral tonic-clonic seizure	9361	LONP1	ORPHA:79243
HP:0002069	Bilateral tonic-clonic seizure	5160	PDHA1	ORPHA:79243
HP:0002069	Bilateral tonic-clonic seizure	51608	GET4	OMIM:620200
HP:0002069	Bilateral tonic-clonic seizure	3431	SP110	ORPHA:79124
HP:0002069	Bilateral tonic-clonic seizure	378884	NHLRC1	OMIM:620681
HP:0002069	Bilateral tonic-clonic seizure	378884	NHLRC1	ORPHA:501
HP:0002069	Bilateral tonic-clonic seizure	128989	TANGO2	ORPHA:480864
HP:0002069	Bilateral tonic-clonic seizure	6821	SUOX	OMIM:272300
HP:0002069	Bilateral tonic-clonic seizure	2898	GRIK2	OMIM:619580
HP:0002069	Bilateral tonic-clonic seizure	1137	CHRNA4	ORPHA:98784
HP:0002069	Bilateral tonic-clonic seizure	1135	CHRNA2	ORPHA:98784
HP:0002069	Bilateral tonic-clonic seizure	57010	CABP4	ORPHA:98784
HP:0002069	Bilateral tonic-clonic seizure	1141	CHRNB2	ORPHA:98784
HP:0002069	Bilateral tonic-clonic seizure	1392	CRH	ORPHA:98784
HP:0002069	Bilateral tonic-clonic seizure	23258	DENND5A	OMIM:617281
HP:0002069	Bilateral tonic-clonic seizure	774	CACNA1B	OMIM:618497
HP:0002069	Bilateral tonic-clonic seizure	5283	PIGH	OMIM:618010
HP:0002069	Bilateral tonic-clonic seizure	135	ADORA2A	ORPHA:363549
HP:0002069	Bilateral tonic-clonic seizure	523	ATP6V1A	OMIM:618012
HP:0002069	Bilateral tonic-clonic seizure	2257	FGF12	OMIM:617166
HP:0002069	Bilateral tonic-clonic seizure	23152	CIC	OMIM:617600
HP:0002069	Bilateral tonic-clonic seizure	208	AKT2	OMIM:240900
HP:0002069	Bilateral tonic-clonic seizure	5723	PSPH	ORPHA:79350
HP:0002069	Bilateral tonic-clonic seizure	57187	THOC2	ORPHA:457240
HP:0002069	Bilateral tonic-clonic seizure	26227	PHGDH	ORPHA:79351
HP:0002069	Bilateral tonic-clonic seizure	1974	EIF4A2	OMIM:620455
HP:0002069	Bilateral tonic-clonic seizure	9256	TSPOAP1	OMIM:620453
HP:0002069	Bilateral tonic-clonic seizure	60386	SLC25A19	ORPHA:99742
HP:0002069	Bilateral tonic-clonic seizure	79736	TEFM	OMIM:620451
HP:0002069	Bilateral tonic-clonic seizure	64864	RFX7	OMIM:620330
HP:0002069	Bilateral tonic-clonic seizure	50801	KCNK4	OMIM:618381
HP:0002069	Bilateral tonic-clonic seizure	10771	ZMYND11	OMIM:616083
HP:0002069	Bilateral tonic-clonic seizure	8943	AP3D1	OMIM:617050
HP:0002069	Bilateral tonic-clonic seizure	10522	DEAF1	OMIM:617171
HP:0002069	Bilateral tonic-clonic seizure	11212	PLPBP	OMIM:617290
HP:0002069	Bilateral tonic-clonic seizure	37	ACADVL	OMIM:201475
HP:0002069	Bilateral tonic-clonic seizure	5281	PIGF	OMIM:619356
HP:0002069	Bilateral tonic-clonic seizure	2892	GRIA3	ORPHA:364028
HP:0002069	Bilateral tonic-clonic seizure	6812	STXBP1	OMIM:612164
HP:0002069	Bilateral tonic-clonic seizure	94005	PIGS	OMIM:618143
HP:0002069	Bilateral tonic-clonic seizure	3747	KCNC2	OMIM:619913
HP:0002069	Bilateral tonic-clonic seizure	22931	RAB18	OMIM:614222
HP:0002069	Bilateral tonic-clonic seizure	4929	NR4A2	OMIM:619911
HP:0002069	Bilateral tonic-clonic seizure	527	ATP6V0C	OMIM:620465
HP:0002069	Bilateral tonic-clonic seizure	80036	TRPM3	OMIM:620224
HP:0002069	Bilateral tonic-clonic seizure	1917	EEF1A2	OMIM:616409
HP:0002069	Bilateral tonic-clonic seizure	7957	EPM2A	ORPHA:501
HP:0002069	Bilateral tonic-clonic seizure	7957	EPM2A	OMIM:254780
HP:0002069	Bilateral tonic-clonic seizure	6050	RNH1	OMIM:620461
HP:0002069	Bilateral tonic-clonic seizure	526	ATP6V1B2	ORPHA:79500
HP:0002069	Bilateral tonic-clonic seizure	56910	STARD7	OMIM:607876
HP:0002069	Bilateral tonic-clonic seizure	122553	TRAPPC6B	OMIM:617862
HP:0002069	Bilateral tonic-clonic seizure	51124	IER3IP1	OMIM:614231
HP:0002069	Bilateral tonic-clonic seizure	23067	SETD1B	OMIM:619000
HP:0002069	Bilateral tonic-clonic seizure	10319	LAMC3	OMIM:614115
HP:0002069	Bilateral tonic-clonic seizure	81562	LMAN2L	OMIM:617863
HP:0002069	Bilateral tonic-clonic seizure	55704	CCDC88A	OMIM:617507
HP:0002069	Bilateral tonic-clonic seizure	9739	SETD1A	OMIM:618832
HP:0002069	Bilateral tonic-clonic seizure	23096	IQSEC2	OMIM:309530
HP:0002069	Bilateral tonic-clonic seizure	54676	GTPBP2	OMIM:617988
HP:0002069	Bilateral tonic-clonic seizure	95	ACY1	OMIM:609924
HP:0002069	Bilateral tonic-clonic seizure	84823	LMNB2	OMIM:616540
HP:0002069	Bilateral tonic-clonic seizure	7157	TP53	OMIM:618165
HP:0002069	Bilateral tonic-clonic seizure	1284	COL4A2	OMIM:614483
HP:0002069	Bilateral tonic-clonic seizure	4724	NDUFS4	OMIM:252010
HP:0002069	Bilateral tonic-clonic seizure	8831	SYNGAP1	OMIM:612621
HP:0002069	Bilateral tonic-clonic seizure	3295	HSD17B4	OMIM:261515
HP:0002069	Bilateral tonic-clonic seizure	10295	BCKDK	OMIM:614923
HP:0002069	Bilateral tonic-clonic seizure	4750	NEK1	ORPHA:2751
HP:0002069	Bilateral tonic-clonic seizure	54936	ADPRS	OMIM:618170
HP:0002069	Bilateral tonic-clonic seizure	60684	TRAPPC11	ORPHA:369840
HP:0002069	Bilateral tonic-clonic seizure	4204	MECP2	ORPHA:209370
HP:0002069	Bilateral tonic-clonic seizure	79587	CARS2	OMIM:616672
HP:0002069	Bilateral tonic-clonic seizure	2752	GLUL	OMIM:620806
HP:0002069	Bilateral tonic-clonic seizure	8738	CRADD	OMIM:614499
HP:0002069	Bilateral tonic-clonic seizure	2260	FGFR1	OMIM:615465
HP:0002069	Bilateral tonic-clonic seizure	55367	PIDD1	OMIM:619827
HP:0002069	Bilateral tonic-clonic seizure	25978	CHMP2B	ORPHA:275864
HP:0002069	Bilateral tonic-clonic seizure	5663	PSEN1	ORPHA:275864
HP:0002069	Bilateral tonic-clonic seizure	2896	GRN	ORPHA:275864
HP:0002069	Bilateral tonic-clonic seizure	54664	TMEM106B	ORPHA:275864
HP:0002069	Bilateral tonic-clonic seizure	8878	SQSTM1	ORPHA:275864
HP:0002069	Bilateral tonic-clonic seizure	4137	MAPT	ORPHA:275864
HP:0002069	Bilateral tonic-clonic seizure	54209	TREM2	ORPHA:275864
HP:0002069	Bilateral tonic-clonic seizure	7415	VCP	ORPHA:275864
HP:0002069	Bilateral tonic-clonic seizure	8449	DHX16	OMIM:618733
HP:0002069	Bilateral tonic-clonic seizure	55753	OGDHL	OMIM:619701
HP:0002069	Bilateral tonic-clonic seizure	9570	GOSR2	OMIM:614018
HP:0002069	Bilateral tonic-clonic seizure	11342	RNF13	ORPHA:544503
HP:0002069	Bilateral tonic-clonic seizure	10299	MARCHF6	OMIM:613608
HP:0002069	Bilateral tonic-clonic seizure	90952	ESAM	OMIM:620371
HP:0002069	Bilateral tonic-clonic seizure	1181	CLCN2	OMIM:607628
HP:0002069	Bilateral tonic-clonic seizure	10479	SLC9A6	OMIM:300243
HP:0002069	Bilateral tonic-clonic seizure	6584	SLC22A5	ORPHA:158
HP:0002069	Bilateral tonic-clonic seizure	27286	SRPX2	ORPHA:163721
HP:0002069	Bilateral tonic-clonic seizure	27286	SRPX2	ORPHA:1945
HP:0002069	Bilateral tonic-clonic seizure	23334	SZT2	OMIM:615476
HP:0002069	Bilateral tonic-clonic seizure	53616	ADAM22	OMIM:617933
HP:0002069	Bilateral tonic-clonic seizure	123263	MTFMT	OMIM:614947
HP:0002069	Bilateral tonic-clonic seizure	8496	PPFIBP1	OMIM:620024
HP:0002069	Bilateral tonic-clonic seizure	23031	MAST3	OMIM:620115
HP:0002069	Bilateral tonic-clonic seizure	51083	GAL	OMIM:616461
HP:0002069	Bilateral tonic-clonic seizure	93627	TBCK	OMIM:616900
HP:0002069	Bilateral tonic-clonic seizure	83480	PUS3	ORPHA:488627
HP:0002069	Bilateral tonic-clonic seizure	57107	PDSS2	OMIM:614652
HP:0002069	Bilateral tonic-clonic seizure	8085	KMT2D	OMIM:147920
HP:0002069	Bilateral tonic-clonic seizure	7403	KDM6A	OMIM:147920
HP:0002069	Bilateral tonic-clonic seizure	427	ASAH1	ORPHA:2590
HP:0002069	Bilateral tonic-clonic seizure	4677	NARS1	OMIM:619091
HP:0002069	Bilateral tonic-clonic seizure	4677	NARS1	OMIM:619092
HP:0002069	Bilateral tonic-clonic seizure	26235	FBXL4	OMIM:615471
HP:0002069	Bilateral tonic-clonic seizure	1351	COX8A	OMIM:619059
HP:0002069	Bilateral tonic-clonic seizure	2629	GBA1	ORPHA:2072
HP:0002069	Bilateral tonic-clonic seizure	149371	EXOC8	OMIM:619076
HP:0002069	Bilateral tonic-clonic seizure	23126	POGZ	OMIM:616364
HP:0002069	Bilateral tonic-clonic seizure	57282	SLC4A10	OMIM:620746
HP:0002069	Bilateral tonic-clonic seizure	55275	VPS53	OMIM:615851
HP:0002069	Bilateral tonic-clonic seizure	6529	SLC6A1	ORPHA:1942
HP:0002069	Bilateral tonic-clonic seizure	9289	ADGRG1	ORPHA:101070
HP:0002069	Bilateral tonic-clonic seizure	5728	PTEN	ORPHA:101070
HP:0002069	Bilateral tonic-clonic seizure	2571	GAD1	OMIM:619124
HP:0002069	Bilateral tonic-clonic seizure	51075	TMX2	OMIM:618730
HP:0002069	Bilateral tonic-clonic seizure	84274	COQ5	OMIM:619028
HP:0002069	Bilateral tonic-clonic seizure	5833	PCYT2	OMIM:618770
HP:0002069	Bilateral tonic-clonic seizure	3658	IREB2	OMIM:618451
HP:0002069	Bilateral tonic-clonic seizure	283989	TSEN54	ORPHA:2524
HP:0002069	Bilateral tonic-clonic seizure	116461	TSEN15	ORPHA:2524
HP:0002069	Bilateral tonic-clonic seizure	79042	TSEN34	ORPHA:2524
HP:0002069	Bilateral tonic-clonic seizure	80746	TSEN2	ORPHA:2524
HP:0002069	Bilateral tonic-clonic seizure	51091	SEPSECS	ORPHA:2524
HP:0002069	Bilateral tonic-clonic seizure	83479	DDX59	OMIM:174300
HP:0002069	Bilateral tonic-clonic seizure	10664	CTCF	OMIM:615502
HP:0002069	Bilateral tonic-clonic seizure	2558	GABRA5	OMIM:618559
HP:0002069	Bilateral tonic-clonic seizure	78987	CRELD1	OMIM:620771
HP:0002069	Bilateral tonic-clonic seizure	5813	PURA	ORPHA:314655
HP:0002069	Bilateral tonic-clonic seizure	5830	PEX5	OMIM:616716
HP:0002069	Bilateral tonic-clonic seizure	6844	VAMP2	OMIM:618760
HP:0002408	Cerebral arteriovenous malformation	3845	KRAS	OMIM:108010
HP:0002408	Cerebral arteriovenous malformation	3569	IL6	OMIM:108010
HP:0002408	Cerebral arteriovenous malformation	94	ACVRL1	OMIM:600376
HP:0002408	Cerebral arteriovenous malformation	94	ACVRL1	ORPHA:774
HP:0002408	Cerebral arteriovenous malformation	2658	GDF2	ORPHA:774
HP:0002408	Cerebral arteriovenous malformation	4089	SMAD4	ORPHA:774
HP:0002408	Cerebral arteriovenous malformation	4089	SMAD4	OMIM:175050
HP:0002408	Cerebral arteriovenous malformation	2022	ENG	ORPHA:774
HP:0002408	Cerebral arteriovenous malformation	2022	ENG	OMIM:187300
HP:0002408	Cerebral arteriovenous malformation	2050	EPHB4	ORPHA:137667
HP:0002408	Cerebral arteriovenous malformation	5921	RASA1	ORPHA:137667
HP:0002408	Cerebral arteriovenous malformation	5921	RASA1	ORPHA:90307
HP:0002197	Generalized-onset seizure	57526	PCDH19	ORPHA:101039
HP:0002197	Generalized-onset seizure	57526	PCDH19	OMIM:300088
HP:0002197	Generalized-onset seizure	84706	GPT2	OMIM:616281
HP:0002197	Generalized-onset seizure	4524	MTHFR	ORPHA:395
HP:0002197	Generalized-onset seizure	4791	NFKB2	ORPHA:293978
HP:0002197	Generalized-onset seizure	26960	NBEA	OMIM:619157
HP:0002197	Generalized-onset seizure	340533	NEXMIF	OMIM:300912
HP:0002197	Generalized-onset seizure	340533	NEXMIF	ORPHA:1942
HP:0002197	Generalized-onset seizure	57468	SLC12A5	OMIM:616685
HP:0002197	Generalized-onset seizure	8733	GPAA1	OMIM:617810
HP:0002197	Generalized-onset seizure	781	CACNA2D1	OMIM:620149
HP:0002197	Generalized-onset seizure	6334	SCN8A	ORPHA:306
HP:0002197	Generalized-onset seizure	6334	SCN8A	OMIM:614558
HP:0002197	Generalized-onset seizure	3785	KCNQ2	ORPHA:306
HP:0002197	Generalized-onset seizure	6709	SPTAN1	OMIM:620540
HP:0002197	Generalized-onset seizure	4076	CAPRIN1	OMIM:620782
HP:0002197	Generalized-onset seizure	64324	NSD1	ORPHA:821
HP:0002197	Generalized-onset seizure	80232	WDR26	ORPHA:513456
HP:0002197	Generalized-onset seizure	54344	DPM3	OMIM:618992
HP:0002197	Generalized-onset seizure	5515	PPP2CA	OMIM:618354
HP:0002197	Generalized-onset seizure	24137	KIF4A	OMIM:300923
HP:0002197	Generalized-onset seizure	6096	RORB	OMIM:618357
HP:0002197	Generalized-onset seizure	51741	WWOX	OMIM:616211
HP:0002197	Generalized-onset seizure	1106	CHD2	OMIM:615369
HP:0002197	Generalized-onset seizure	1106	CHD2	ORPHA:1942
HP:0002197	Generalized-onset seizure	478	ATP1A3	OMIM:619606
HP:0002197	Generalized-onset seizure	2782	GNB1	OMIM:616973
HP:0002197	Generalized-onset seizure	7532	YWHAG	OMIM:617665
HP:0002197	Generalized-onset seizure	80055	PGAP1	OMIM:615802
HP:0002197	Generalized-onset seizure	1476	CSTB	OMIM:254800
HP:0002197	Generalized-onset seizure	846	CASR	OMIM:612899
HP:0002197	Generalized-onset seizure	55768	NGLY1	ORPHA:404454
HP:0002197	Generalized-onset seizure	3908	LAMA2	ORPHA:258
HP:0002197	Generalized-onset seizure	7846	TUBA1A	ORPHA:467166
HP:0002197	Generalized-onset seizure	10381	TUBB3	ORPHA:467166
HP:0002197	Generalized-onset seizure	6609	SMPD1	ORPHA:77293
HP:0002197	Generalized-onset seizure	3899	AFF3	OMIM:619297
HP:0002197	Generalized-onset seizure	80224	NUBPL	OMIM:618242
HP:0002197	Generalized-onset seizure	166378	AFG2A	ORPHA:457351
HP:0002197	Generalized-onset seizure	79029	AFG2B	OMIM:619616
HP:0002197	Generalized-onset seizure	116150	NUS1	OMIM:617831
HP:0002197	Generalized-onset seizure	815	CAMK2A	OMIM:617798
HP:0002197	Generalized-onset seizure	2664	GDI1	OMIM:300849
HP:0002197	Generalized-onset seizure	2562	GABRB3	OMIM:612269
HP:0002197	Generalized-onset seizure	2770	GNAI1	OMIM:619854
HP:0002197	Generalized-onset seizure	27315	PGAP2	OMIM:614207
HP:0002197	Generalized-onset seizure	84188	FAR1	OMIM:619338
HP:0002197	Generalized-onset seizure	1183	CLCN4	ORPHA:485350
HP:0002197	Generalized-onset seizure	23327	NEDD4L	OMIM:617201
HP:0002197	Generalized-onset seizure	23152	CIC	OMIM:617600
HP:0002197	Generalized-onset seizure	4915	NTRK2	OMIM:613886
HP:0002197	Generalized-onset seizure	1954	MEGF8	OMIM:614976
HP:0002197	Generalized-onset seizure	6304	SATB1	OMIM:619229
HP:0002197	Generalized-onset seizure	2903	GRIN2A	ORPHA:98818
HP:0002197	Generalized-onset seizure	26227	PHGDH	ORPHA:79351
HP:0002197	Generalized-onset seizure	6513	SLC2A1	ORPHA:98811
HP:0002197	Generalized-onset seizure	6513	SLC2A1	ORPHA:1942
HP:0002197	Generalized-onset seizure	1974	EIF4A2	OMIM:620455
HP:0002197	Generalized-onset seizure	64864	RFX7	OMIM:620330
HP:0002197	Generalized-onset seizure	7915	ALDH5A1	OMIM:271980
HP:0002197	Generalized-onset seizure	23316	CUX2	OMIM:618141
HP:0002197	Generalized-onset seizure	51604	PIGT	OMIM:615398
HP:0002197	Generalized-onset seizure	51604	PIGT	ORPHA:369837
HP:0002197	Generalized-onset seizure	5063	PAK3	OMIM:300558
HP:0002197	Generalized-onset seizure	3747	KCNC2	OMIM:619913
HP:0002197	Generalized-onset seizure	23443	SLC35A3	OMIM:615553
HP:0002197	Generalized-onset seizure	23443	SLC35A3	ORPHA:370943
HP:0002197	Generalized-onset seizure	23040	MYT1L	OMIM:616521
HP:0002197	Generalized-onset seizure	85440	DOCK7	ORPHA:411986
HP:0002197	Generalized-onset seizure	527	ATP6V0C	OMIM:620465
HP:0002197	Generalized-onset seizure	80036	TRPM3	OMIM:620224
HP:0002197	Generalized-onset seizure	378884	NHLRC1	ORPHA:501
HP:0002197	Generalized-onset seizure	7957	EPM2A	ORPHA:501
HP:0002197	Generalized-onset seizure	7957	EPM2A	OMIM:254780
HP:0002197	Generalized-onset seizure	57459	GATAD2B	ORPHA:363686
HP:0002197	Generalized-onset seizure	6595	SMARCA2	ORPHA:3051
HP:0002197	Generalized-onset seizure	55210	ATAD3A	OMIM:617183
HP:0002197	Generalized-onset seizure	10472	ZBTB18	OMIM:612337
HP:0002197	Generalized-onset seizure	23031	MAST3	OMIM:620115
HP:0002197	Generalized-onset seizure	2556	GABRA3	OMIM:301091
HP:0002197	Generalized-onset seizure	6529	SLC6A1	OMIM:616421
HP:0002197	Generalized-onset seizure	6529	SLC6A1	ORPHA:1942
HP:0002197	Generalized-onset seizure	10743	RAI1	OMIM:182290
HP:0002197	Generalized-onset seizure	100151683	RNU4ATAC	ORPHA:2636
HP:0002197	Generalized-onset seizure	2146	EZH2	OMIM:277590
HP:0002197	Generalized-onset seizure	1719	DHFR	OMIM:613839
HP:0002197	Generalized-onset seizure	1173	AP2M1	ORPHA:1942
HP:0002197	Generalized-onset seizure	54936	ADPRS	OMIM:618170
HP:0002197	Generalized-onset seizure	4204	MECP2	OMIM:300260
HP:0002197	Generalized-onset seizure	1893	ECM1	OMIM:247100
HP:0002197	Generalized-onset seizure	8621	CDK13	OMIM:617360
HP:0002197	Generalized-onset seizure	93183	PIGM	OMIM:610293
HP:0002197	Generalized-onset seizure	7543	ZFX	OMIM:301118
HP:0002197	Generalized-onset seizure	93587	TRMT10A	OMIM:616033
HP:0002197	Generalized-onset seizure	2703	GJA8	OMIM:612474
HP:0002197	Generalized-onset seizure	2702	GJA5	OMIM:612474
HP:0002197	Generalized-onset seizure	27133	KCNH5	OMIM:620537
HP:0002197	Generalized-onset seizure	3736	KCNA1	ORPHA:1934
HP:0002197	Generalized-onset seizure	9091	PIGQ	ORPHA:1934
HP:0002197	Generalized-onset seizure	2775	GNAO1	ORPHA:1934
HP:0002197	Generalized-onset seizure	81603	TRIM8	ORPHA:1934
HP:0002197	Generalized-onset seizure	79751	SLC25A22	ORPHA:1934
HP:0002197	Generalized-onset seizure	150094	SIK1	ORPHA:1934
HP:0002197	Generalized-onset seizure	8573	CASK	ORPHA:1934
HP:0002197	Generalized-onset seizure	23312	DMXL2	ORPHA:1934
HP:0002197	Generalized-onset seizure	2917	GRM7	ORPHA:1934
HP:0002197	Generalized-onset seizure	170302	ARX	ORPHA:1934
HP:0002197	Generalized-onset seizure	11284	PNKP	ORPHA:1934
HP:0002197	Generalized-onset seizure	51227	PIGP	ORPHA:1934
HP:0002197	Generalized-onset seizure	4761	NEUROD2	ORPHA:1934
HP:0002197	Generalized-onset seizure	4558	MT-TF	ORPHA:551
HP:0002197	Generalized-onset seizure	4558	MT-TF	OMIM:545000
HP:0002197	Generalized-onset seizure	4567	MT-TL1	ORPHA:551
HP:0002197	Generalized-onset seizure	4567	MT-TL1	ORPHA:255210
HP:0002197	Generalized-onset seizure	4567	MT-TL1	OMIM:545000
HP:0002197	Generalized-onset seizure	4549	MT-RNR1	ORPHA:551
HP:0002197	Generalized-onset seizure	4574	MT-TS1	ORPHA:551
HP:0002197	Generalized-onset seizure	4575	MT-TS2	ORPHA:551
HP:0002197	Generalized-onset seizure	4571	MT-TP	ORPHA:551
HP:0002197	Generalized-onset seizure	4571	MT-TP	OMIM:545000
HP:0002197	Generalized-onset seizure	4572	MT-TQ	ORPHA:551
HP:0002197	Generalized-onset seizure	4540	MT-ND5	ORPHA:551
HP:0002197	Generalized-onset seizure	4540	MT-ND5	ORPHA:255210
HP:0002197	Generalized-onset seizure	4566	MT-TK	ORPHA:551
HP:0002197	Generalized-onset seizure	4566	MT-TK	ORPHA:255210
HP:0002197	Generalized-onset seizure	4566	MT-TK	OMIM:545000
HP:0002197	Generalized-onset seizure	4564	MT-TH	ORPHA:551
HP:0002197	Generalized-onset seizure	10059	DNM1L	ORPHA:330050
HP:0002197	Generalized-onset seizure	8818	DPM2	ORPHA:329178
HP:0002197	Generalized-onset seizure	2720	GLB1	OMIM:230600
HP:0002197	Generalized-onset seizure	2896	GRN	OMIM:614706
HP:0002197	Generalized-onset seizure	84320	ACBD6	OMIM:620785
HP:0002197	Generalized-onset seizure	4758	NEU1	ORPHA:93399
HP:0002197	Generalized-onset seizure	57465	TBC1D24	OMIM:605021
HP:0002197	Generalized-onset seizure	57465	TBC1D24	ORPHA:352596
HP:0002197	Generalized-onset seizure	57465	TBC1D24	ORPHA:352582
HP:0002197	Generalized-onset seizure	501	ALDH7A1	OMIM:266100
HP:0002197	Generalized-onset seizure	4535	MT-ND1	ORPHA:255210
HP:0002197	Generalized-onset seizure	4536	MT-ND2	ORPHA:255210
HP:0002197	Generalized-onset seizure	4537	MT-ND3	ORPHA:255210
HP:0002197	Generalized-onset seizure	4538	MT-ND4	ORPHA:255210
HP:0002197	Generalized-onset seizure	4578	MT-TW	ORPHA:255210
HP:0002197	Generalized-onset seizure	4577	MT-TV	ORPHA:255210
HP:0002197	Generalized-onset seizure	4508	MT-ATP6	ORPHA:255210
HP:0002197	Generalized-onset seizure	4541	MT-ND6	ORPHA:255210
HP:0002197	Generalized-onset seizure	22854	NTNG1	ORPHA:3095
HP:0002197	Generalized-onset seizure	9568	GABBR2	ORPHA:3095
HP:0002197	Generalized-onset seizure	8243	SMC1A	ORPHA:3095
HP:0002197	Generalized-onset seizure	2593	GAMT	ORPHA:382
HP:0002197	Generalized-onset seizure	79587	CARS2	ORPHA:477774
HP:0002197	Generalized-onset seizure	54820	NDE1	OMIM:605013
HP:0002197	Generalized-onset seizure	3767	KCNJ11	ORPHA:99885
HP:0002197	Generalized-onset seizure	6774	STAT3	ORPHA:99885
HP:0002197	Generalized-onset seizure	2645	GCK	ORPHA:99885
HP:0002197	Generalized-onset seizure	3651	PDX1	ORPHA:99885
HP:0002197	Generalized-onset seizure	6833	ABCC8	ORPHA:99885
HP:0002197	Generalized-onset seizure	3630	INS	ORPHA:99885
HP:0002197	Generalized-onset seizure	154881	KCTD7	OMIM:611726
HP:0002197	Generalized-onset seizure	10166	SLC25A15	ORPHA:415
HP:0002197	Generalized-onset seizure	10166	SLC25A15	OMIM:238970
HP:0002197	Generalized-onset seizure	4694	NDUFA1	OMIM:301020
HP:0002197	Generalized-onset seizure	686	BTD	ORPHA:79241
HP:0002197	Generalized-onset seizure	10939	AFG3L2	ORPHA:313772
HP:0002197	Generalized-onset seizure	10939	AFG3L2	OMIM:614487
HP:0002197	Generalized-onset seizure	128989	TANGO2	ORPHA:480864
HP:0002197	Generalized-onset seizure	57531	HACE1	ORPHA:464282
HP:0002197	Generalized-onset seizure	57531	HACE1	OMIM:616756
HP:0002197	Generalized-onset seizure	80856	LNPK	OMIM:618090
HP:0002197	Generalized-onset seizure	51651	PTRH2	ORPHA:456312
HP:0002197	Generalized-onset seizure	4565	MT-TI	OMIM:545000
HP:0002197	Generalized-onset seizure	5283	PIGH	OMIM:618010
HP:0002197	Generalized-onset seizure	83696	TRAPPC9	ORPHA:352530
HP:0002197	Generalized-onset seizure	6785	ELOVL4	OMIM:614457
HP:0002197	Generalized-onset seizure	144165	PRICKLE1	OMIM:612437
HP:0002197	Generalized-onset seizure	2629	GBA1	OMIM:231000
HP:0002197	Generalized-onset seizure	2629	GBA1	ORPHA:2072
HP:0002197	Generalized-onset seizure	2629	GBA1	ORPHA:77261
HP:0002197	Generalized-onset seizure	2629	GBA1	ORPHA:77260
HP:0002197	Generalized-onset seizure	1798	DPAGT1	ORPHA:86309
HP:0002197	Generalized-onset seizure	6611	SMS	ORPHA:3063
HP:0002197	Generalized-onset seizure	57061	HYMAI	ORPHA:96191
HP:0002197	Generalized-onset seizure	5325	PLAGL1	ORPHA:96191
HP:0002197	Generalized-onset seizure	56978	PRDM8	OMIM:616640
HP:0002197	Generalized-onset seizure	6812	STXBP1	OMIM:612164
HP:0002197	Generalized-onset seizure	6812	STXBP1	ORPHA:599373
HP:0002197	Generalized-onset seizure	4983	OPHN1	ORPHA:137831
HP:0002197	Generalized-onset seizure	5293	PIK3CD	ORPHA:221139
HP:0002197	Generalized-onset seizure	5293	PIK3CD	OMIM:613328
HP:0002197	Generalized-onset seizure	90417	KNSTRN	ORPHA:221139
HP:0002197	Generalized-onset seizure	90417	KNSTRN	OMIM:613328
HP:0002197	Generalized-onset seizure	10991	SLC38A3	OMIM:619881
HP:0002197	Generalized-onset seizure	283989	TSEN54	ORPHA:2524
HP:0002197	Generalized-onset seizure	116461	TSEN15	ORPHA:2524
HP:0002197	Generalized-onset seizure	79042	TSEN34	ORPHA:2524
HP:0002197	Generalized-onset seizure	80746	TSEN2	ORPHA:2524
HP:0002197	Generalized-onset seizure	51091	SEPSECS	ORPHA:2524
HP:0002197	Generalized-onset seizure	256471	MFSD8	OMIM:610951
HP:0002197	Generalized-onset seizure	54802	TRIT1	OMIM:617873
HP:0002197	Generalized-onset seizure	84823	LMNB2	OMIM:616540
HP:0002197	Generalized-onset seizure	6389	SDHA	ORPHA:3208
HP:0002197	Generalized-onset seizure	6390	SDHB	ORPHA:3208
HP:0002197	Generalized-onset seizure	6392	SDHD	ORPHA:3208
HP:0002197	Generalized-onset seizure	644096	SDHAF1	ORPHA:3208
HP:0002197	Generalized-onset seizure	51294	PCDH12	OMIM:251280
HP:0002197	Generalized-onset seizure	2055	CLN8	ORPHA:1947
HP:0002197	Generalized-onset seizure	2581	GALC	ORPHA:206436
HP:0002197	Generalized-onset seizure	5660	PSAP	ORPHA:206436
HP:0002197	Generalized-onset seizure	8813	DPM1	ORPHA:79322
HP:0002197	Generalized-onset seizure	701	BUB1B	OMIM:257300
HP:0002197	Generalized-onset seizure	221927	BRAT1	OMIM:614498
HP:0002197	Generalized-onset seizure	2137	EXTL3	ORPHA:508533
HP:0002197	Generalized-onset seizure	2137	EXTL3	OMIM:617425
HP:0002197	Generalized-onset seizure	10128	LRPPRC	OMIM:220111
HP:0002197	Generalized-onset seizure	2982	GUCY1A1	OMIM:615750
HP:0002197	Generalized-onset seizure	27247	NFU1	OMIM:620938
HP:0002197	Generalized-onset seizure	23334	SZT2	OMIM:615476
HP:0002197	Generalized-onset seizure	11133	KPTN	OMIM:615637
HP:0002197	Generalized-onset seizure	81570	CLPB	OMIM:619835
HP:0002197	Generalized-onset seizure	114327	EFHC1	ORPHA:307
HP:0002197	Generalized-onset seizure	114327	EFHC1	ORPHA:1941
HP:0002197	Generalized-onset seizure	2563	GABRD	ORPHA:307
HP:0002197	Generalized-onset seizure	2563	GABRD	ORPHA:36387
HP:0002197	Generalized-onset seizure	1181	CLCN2	ORPHA:307
HP:0002197	Generalized-onset seizure	2554	GABRA1	ORPHA:307
HP:0002197	Generalized-onset seizure	3786	KCNQ3	ORPHA:307
HP:0002197	Generalized-onset seizure	22858	CILK1	ORPHA:307
HP:0002197	Generalized-onset seizure	8629	JRK	ORPHA:307
HP:0002197	Generalized-onset seizure	785	CACNB4	ORPHA:307
HP:0002197	Generalized-onset seizure	8496	PPFIBP1	OMIM:620024
HP:0002197	Generalized-onset seizure	387119	CEP85L	OMIM:618873
HP:0002197	Generalized-onset seizure	57520	HECW2	OMIM:617268
HP:0002197	Generalized-onset seizure	83479	DDX59	OMIM:174300
HP:0002197	Generalized-onset seizure	3778	KCNMA1	ORPHA:79137
HP:0002197	Generalized-onset seizure	284403	WDR62	OMIM:604317
HP:0002197	Generalized-onset seizure	427	ASAH1	OMIM:159950
HP:0002197	Generalized-onset seizure	7084	TK2	ORPHA:254875
HP:0002197	Generalized-onset seizure	284058	KANSL1	ORPHA:363958
HP:0002197	Generalized-onset seizure	284058	KANSL1	ORPHA:363965
HP:0002197	Generalized-onset seizure	9698	PUM1	OMIM:620719
HP:0002197	Generalized-onset seizure	8831	SYNGAP1	ORPHA:544254
HP:0002197	Generalized-onset seizure	8260	NAA10	OMIM:300855
HP:0002197	Generalized-onset seizure	9692	PRORP	OMIM:619737
HP:0002197	Generalized-onset seizure	51079	NDUFA13	OMIM:618249
HP:0002197	Generalized-onset seizure	9570	GOSR2	OMIM:620166
HP:0002197	Generalized-onset seizure	8604	SLC25A12	OMIM:612949
HP:0002197	Generalized-onset seizure	22872	SEC31A	OMIM:618651
HP:0002197	Generalized-onset seizure	2906	GRIN2D	OMIM:617162
HP:0002197	Generalized-onset seizure	5277	PIGA	OMIM:300868
HP:0002197	Generalized-onset seizure	26040	SETBP1	OMIM:616078
HP:0002197	Generalized-onset seizure	1641	DCX	ORPHA:2148
HP:0002197	Generalized-onset seizure	2475	MTOR	ORPHA:457485
HP:0002197	Generalized-onset seizure	79813	EHMT1	OMIM:610253
HP:0002197	Generalized-onset seizure	55361	PI4K2A	OMIM:620732
HP:0002197	Generalized-onset seizure	950	SCARB2	OMIM:254900
HP:0002197	Generalized-onset seizure	4548	MTR	OMIM:250940
HP:0002197	Generalized-onset seizure	6335	SCN9A	ORPHA:36387
HP:0002197	Generalized-onset seizure	112755	STX1B	ORPHA:36387
HP:0002197	Generalized-onset seizure	6326	SCN2A	ORPHA:36387
HP:0002197	Generalized-onset seizure	112476	PRRT2	ORPHA:36387
HP:0002197	Generalized-onset seizure	112476	PRRT2	OMIM:602066
HP:0002197	Generalized-onset seizure	6323	SCN1A	ORPHA:36387
HP:0002197	Generalized-onset seizure	6324	SCN1B	ORPHA:36387
HP:0002197	Generalized-onset seizure	348980	HCN1	ORPHA:36387
HP:0002197	Generalized-onset seizure	2258	FGF13	ORPHA:36387
HP:0002197	Generalized-onset seizure	84059	ADGRV1	ORPHA:36387
HP:0002197	Generalized-onset seizure	2566	GABRG2	ORPHA:36387
HP:0002197	Generalized-onset seizure	5373	PMM2	OMIM:212065
HP:0002197	Generalized-onset seizure	2746	GLUD1	ORPHA:35878
HP:0002197	Generalized-onset seizure	6792	CDKL5	OMIM:300672
HP:0002197	Generalized-onset seizure	5530	PPP3CA	OMIM:618265
HP:0002197	Generalized-onset seizure	10815	CPLX1	OMIM:617976
HP:0002197	Generalized-onset seizure	4613	MYCN	OMIM:620748
HP:0002197	Generalized-onset seizure	5828	PEX2	OMIM:614866
HP:0002197	Generalized-onset seizure	8659	ALDH4A1	ORPHA:79101
HP:0002197	Generalized-onset seizure	5649	RELN	OMIM:257320
HP:0002197	Generalized-onset seizure	5649	RELN	ORPHA:101046
HP:0002197	Generalized-onset seizure	83475	DOHH	OMIM:620066
HP:0002197	Generalized-onset seizure	25814	ATXN10	ORPHA:98761
HP:0002197	Generalized-onset seizure	3766	KCNJ10	ORPHA:199343
HP:0002197	Generalized-onset seizure	151	ADRA2B	ORPHA:86814
HP:0002197	Generalized-onset seizure	55689	YEATS2	ORPHA:86814
HP:0002197	Generalized-onset seizure	1501	CTNND2	ORPHA:86814
HP:0002197	Generalized-onset seizure	10299	MARCHF6	ORPHA:86814
HP:0002197	Generalized-onset seizure	6900	CNTN2	ORPHA:86814
HP:0002197	Generalized-onset seizure	401474	SAMD12	ORPHA:86814
HP:0002197	Generalized-onset seizure	7504	XK	OMIM:300842
HP:0002197	Generalized-onset seizure	51124	IER3IP1	OMIM:614231
HP:0002197	Generalized-onset seizure	5594	MAPK1	OMIM:619087
HP:0002197	Generalized-onset seizure	79143	MBOAT7	OMIM:617188
HP:0002197	Generalized-onset seizure	347733	TUBB2B	OMIM:610031
HP:0002197	Generalized-onset seizure	476	ATP1A1	OMIM:618314
HP:0002197	Generalized-onset seizure	476	ATP1A1	ORPHA:564178
HP:0002197	Generalized-onset seizure	10297	APC2	OMIM:618677
HP:0002197	Generalized-onset seizure	140679	SLC32A1	OMIM:620755
HP:0002197	Generalized-onset seizure	2512	FTL	OMIM:615604
HP:0002197	Generalized-onset seizure	57038	RARS2	OMIM:611523
HP:0002197	Generalized-onset seizure	6509	SLC1A4	OMIM:616657
HP:0002197	Generalized-onset seizure	5354	PLP1	ORPHA:280229
HP:0002197	Generalized-onset seizure	55129	ANO10	ORPHA:284289
HP:0002197	Generalized-onset seizure	23162	MAPK8IP3	OMIM:618443
HP:0002197	Generalized-onset seizure	554	AVPR2	OMIM:300539
HP:0002197	Generalized-onset seizure	6651	SON	ORPHA:500150
HP:0002197	Generalized-onset seizure	10479	SLC9A6	ORPHA:85278
HP:0002197	Generalized-onset seizure	26047	CNTNAP2	OMIM:610042
HP:0002197	Generalized-onset seizure	8565	YARS1	OMIM:619418
HP:0002197	Generalized-onset seizure	2261	FGFR3	ORPHA:85165
HP:0002197	Generalized-onset seizure	404672	GTF2H5	ORPHA:33364
HP:0002197	Generalized-onset seizure	833	CARS1	ORPHA:33364
HP:0002197	Generalized-onset seizure	2068	ERCC2	ORPHA:33364
HP:0002197	Generalized-onset seizure	7737	RNF113A	ORPHA:33364
HP:0002197	Generalized-onset seizure	136647	MPLKIP	ORPHA:33364
HP:0002197	Generalized-onset seizure	6897	TARS1	ORPHA:33364
HP:0002197	Generalized-onset seizure	16	AARS1	ORPHA:33364
HP:0002197	Generalized-onset seizure	2071	ERCC3	ORPHA:33364
HP:0002197	Generalized-onset seizure	2961	GTF2E2	ORPHA:33364
HP:0002197	Generalized-onset seizure	10295	BCKDK	OMIM:614923
HP:0002197	Generalized-onset seizure	28962	OSTM1	OMIM:259720
HP:0002197	Generalized-onset seizure	5664	PSEN2	OMIM:606889
HP:0002197	Generalized-onset seizure	348	APOE	OMIM:606889
HP:0002197	Generalized-onset seizure	29071	C1GALT1C1	OMIM:301110
HP:0002197	Generalized-onset seizure	9211	LGI1	ORPHA:101046
HP:0002197	Generalized-onset seizure	9681	DEPDC5	ORPHA:101046
HP:0002197	Generalized-onset seizure	11277	TREX1	ORPHA:247691
HP:0002197	Generalized-onset seizure	8803	SUCLA2	OMIM:612073
HP:0002197	Generalized-onset seizure	2752	GLUL	OMIM:620806
HP:0002197	Generalized-onset seizure	10243	GPHN	OMIM:615501
HP:0002197	Generalized-onset seizure	9131	AIFM1	OMIM:300816
HP:0002197	Generalized-onset seizure	55367	PIDD1	OMIM:619827
HP:0002197	Generalized-onset seizure	9373	PLAA	OMIM:617527
HP:0002197	Generalized-onset seizure	9230	RAB11B	OMIM:617807
HP:0002197	Generalized-onset seizure	78987	CRELD1	OMIM:620771
HP:0002197	Generalized-onset seizure	2902	GRIN1	ORPHA:208447
HP:0002197	Generalized-onset seizure	7337	UBE3A	ORPHA:98795
HP:0002197	Generalized-onset seizure	3192	HNRNPU	OMIM:617391
HP:0002197	Generalized-onset seizure	343450	KCNT2	OMIM:617771
HP:0002197	Generalized-onset seizure	1759	DNM1	OMIM:616346
HP:0002197	Generalized-onset seizure	1759	DNM1	ORPHA:2382
HP:0002197	Generalized-onset seizure	23732	FRRS1L	ORPHA:725
HP:0002197	Generalized-onset seizure	5048	PAFAH1B1	ORPHA:95232
HP:0002197	Generalized-onset seizure	27286	SRPX2	ORPHA:1945
HP:0002197	Generalized-onset seizure	9839	ZEB2	ORPHA:261537
HP:0002197	Generalized-onset seizure	9839	ZEB2	ORPHA:261552
HP:0002197	Generalized-onset seizure	5602	MAPK10	ORPHA:2382
HP:0002197	Generalized-onset seizure	773	CACNA1A	ORPHA:2382
HP:0002197	Generalized-onset seizure	3745	KCNB1	OMIM:616056
HP:0002197	Generalized-onset seizure	161725	OTUD7A	OMIM:620790
HP:0002197	Generalized-onset seizure	610	HCN2	OMIM:602477
HP:0002197	Generalized-onset seizure	9361	LONP1	OMIM:600373
HP:0002197	Generalized-onset seizure	23241	PACS2	OMIM:618067
HP:0002197	Generalized-onset seizure	25977	NECAP1	OMIM:615833
HP:0002197	Generalized-onset seizure	4191	MDH2	OMIM:617339
HP:0002197	Generalized-onset seizure	6134	RPL10	ORPHA:459070
HP:0002197	Generalized-onset seizure	22796	COG2	ORPHA:435934
HP:0002197	Generalized-onset seizure	22796	COG2	OMIM:617395
HP:0002197	Generalized-onset seizure	55610	VPS50	OMIM:619685
HP:0002197	Generalized-onset seizure	6506	SLC1A2	OMIM:617105
HP:0002197	Generalized-onset seizure	56997	COQ8A	OMIM:612016
HP:0002197	Generalized-onset seizure	6904	TBCD	ORPHA:496641
HP:0002197	Generalized-onset seizure	6904	TBCD	OMIM:617193
HP:0002197	Generalized-onset seizure	23229	ARHGEF9	ORPHA:163985
HP:0002197	Generalized-onset seizure	340024	SLC6A19	OMIM:234500
HP:0002197	Generalized-onset seizure	3735	KARS1	OMIM:619147
HP:0002197	Generalized-onset seizure	10664	CTCF	OMIM:615502
HP:0002197	Generalized-onset seizure	23314	SATB2	ORPHA:576283
HP:0002197	Generalized-onset seizure	7840	ALMS1	ORPHA:64
HP:0002197	Generalized-onset seizure	8912	CACNA1H	ORPHA:64280
HP:0002197	Generalized-onset seizure	1281	COL3A1	OMIM:618343
HP:0002197	Generalized-onset seizure	1859	DYRK1A	ORPHA:268261
HP:0002197	Generalized-onset seizure	54496	PRMT7	OMIM:617157
HP:0002197	Generalized-onset seizure	23394	ADNP	OMIM:615873
HP:0002197	Generalized-onset seizure	23219	FBXO28	OMIM:619777
HP:0002197	Generalized-onset seizure	3183	HNRNPC	OMIM:620688
HP:0002197	Generalized-onset seizure	51322	WAC	ORPHA:466950
HP:0002197	Generalized-onset seizure	1917	EEF1A2	OMIM:616409
HP:0002197	Generalized-onset seizure	51343	FZR1	OMIM:620145
HP:0002197	Generalized-onset seizure	3190	HNRNPK	ORPHA:352665
HP:0002197	Generalized-onset seizure	3190	HNRNPK	ORPHA:453504
HP:0002197	Generalized-onset seizure	9289	ADGRG1	ORPHA:101070
HP:0002197	Generalized-onset seizure	5728	PTEN	ORPHA:101070
HP:0002197	Generalized-onset seizure	79947	DHDDS	OMIM:617836
HP:0002197	Generalized-onset seizure	23067	SETD1B	OMIM:619000
HP:0002197	Generalized-onset seizure	133686	NADK2	OMIM:616034
HP:0002197	Generalized-onset seizure	11212	PLPBP	ORPHA:3006
HP:0002197	Generalized-onset seizure	197322	ACSF3	ORPHA:289504
HP:0002197	Generalized-onset seizure	197322	ACSF3	OMIM:614265
HP:0002197	Generalized-onset seizure	23261	CAMTA1	OMIM:614756
HP:0002197	Generalized-onset seizure	55753	OGDHL	OMIM:619701
HP:0002197	Generalized-onset seizure	9969	MED13	OMIM:618009
HP:0002197	Generalized-onset seizure	4677	NARS1	OMIM:619091
HP:0002197	Generalized-onset seizure	4677	NARS1	OMIM:619092
HP:0002197	Generalized-onset seizure	26235	FBXL4	OMIM:615471
HP:0002197	Generalized-onset seizure	1351	COX8A	OMIM:619059
HP:0002197	Generalized-onset seizure	149371	EXOC8	OMIM:619076
HP:0002197	Generalized-onset seizure	23126	POGZ	OMIM:616364
HP:0002197	Generalized-onset seizure	57282	SLC4A10	OMIM:620746
HP:0002197	Generalized-onset seizure	55275	VPS53	OMIM:615851
HP:0002197	Generalized-onset seizure	2571	GAD1	OMIM:619124
HP:0002197	Generalized-onset seizure	51075	TMX2	OMIM:618730
HP:0002197	Generalized-onset seizure	84274	COQ5	OMIM:619028
HP:0002197	Generalized-onset seizure	5833	PCYT2	OMIM:618770
HP:0002197	Generalized-onset seizure	3658	IREB2	OMIM:618451
HP:0002197	Generalized-onset seizure	2558	GABRA5	OMIM:618559
HP:0002197	Generalized-onset seizure	5813	PURA	ORPHA:314655
HP:0002197	Generalized-onset seizure	57582	KCNT1	OMIM:614959
HP:0010959	Congenital pulmonary airway malformation	5297	PI4KA	ORPHA:436252
HP:0010959	Congenital pulmonary airway malformation	57217	TTC7A	ORPHA:436252
HP:0010959	Congenital pulmonary airway malformation	57217	TTC7A	OMIM:243150
HP:0010959	Congenital pulmonary airway malformation	54361	WNT4	OMIM:611812
HP:0005656	Positional foot deformity	9853	RUSC2	OMIM:617773
HP:0005656	Positional foot deformity	27247	NFU1	OMIM:620938
HP:0005656	Positional foot deformity	4010	LMX1B	ORPHA:2614
HP:0005656	Positional foot deformity	4010	LMX1B	ORPHA:495818
HP:0005656	Positional foot deformity	4010	LMX1B	OMIM:161200
HP:0005656	Positional foot deformity	9927	MFN2	OMIM:151800
HP:0005656	Positional foot deformity	9927	MFN2	OMIM:617087
HP:0005656	Positional foot deformity	3008	H1-4	OMIM:617537
HP:0005656	Positional foot deformity	84942	WDR73	OMIM:251300
HP:0005656	Positional foot deformity	1131	CHRM3	ORPHA:2970
HP:0005656	Positional foot deformity	1131	CHRM3	OMIM:100100
HP:0005656	Positional foot deformity	5830	PEX5	OMIM:214110
HP:0005656	Positional foot deformity	5830	PEX5	OMIM:616716
HP:0005656	Positional foot deformity	4487	MSX1	ORPHA:199302
HP:0005656	Positional foot deformity	5818	NECTIN1	ORPHA:199302
HP:0005656	Positional foot deformity	8626	TP63	ORPHA:199302
HP:0005656	Positional foot deformity	3664	IRF6	ORPHA:199302
HP:0005656	Positional foot deformity	3664	IRF6	OMIM:119500
HP:0005656	Positional foot deformity	3190	HNRNPK	ORPHA:453504
HP:0005656	Positional foot deformity	3190	HNRNPK	ORPHA:352665
HP:0005656	Positional foot deformity	6662	SOX9	ORPHA:140
HP:0005656	Positional foot deformity	6662	SOX9	OMIM:114290
HP:0005656	Positional foot deformity	10743	RAI1	ORPHA:477817
HP:0005656	Positional foot deformity	54332	GDAP1	OMIM:607831
HP:0005656	Positional foot deformity	54332	GDAP1	ORPHA:101097
HP:0005656	Positional foot deformity	54332	GDAP1	OMIM:608340
HP:0005656	Positional foot deformity	56704	JPH1	OMIM:607831
HP:0005656	Positional foot deformity	65267	WNK3	OMIM:309610
HP:0005656	Positional foot deformity	6536	SLC6A9	OMIM:617301
HP:0005656	Positional foot deformity	64412	GZF1	OMIM:617662
HP:0005656	Positional foot deformity	51111	KMT5B	OMIM:617788
HP:0005656	Positional foot deformity	84466	MEGF10	OMIM:614399
HP:0005656	Positional foot deformity	2201	FBN2	OMIM:121050
HP:0005656	Positional foot deformity	3508	IGHMBP2	OMIM:604320
HP:0005656	Positional foot deformity	3508	IGHMBP2	OMIM:616155
HP:0005656	Positional foot deformity	81846	SBF2	OMIM:604563
HP:0005656	Positional foot deformity	79158	GNPTAB	OMIM:252500
HP:0005656	Positional foot deformity	79158	GNPTAB	ORPHA:576
HP:0005656	Positional foot deformity	57231	SNX14	ORPHA:397709
HP:0005656	Positional foot deformity	57231	SNX14	OMIM:616354
HP:0005656	Positional foot deformity	5189	PEX1	OMIM:214100
HP:0005656	Positional foot deformity	60561	RINT1	OMIM:618641
HP:0005656	Positional foot deformity	129685	TAF8	OMIM:619972
HP:0005656	Positional foot deformity	23321	TRIM2	OMIM:615490
HP:0005656	Positional foot deformity	9469	CHST3	OMIM:143095
HP:0005656	Positional foot deformity	9469	CHST3	OMIM:245600
HP:0005656	Positional foot deformity	10606	PAICS	OMIM:619859
HP:0005656	Positional foot deformity	3339	HSPG2	ORPHA:1865
HP:0005656	Positional foot deformity	3339	HSPG2	OMIM:255800
HP:0005656	Positional foot deformity	3339	HSPG2	OMIM:224410
HP:0005656	Positional foot deformity	3339	HSPG2	ORPHA:800
HP:0005656	Positional foot deformity	1277	COL1A1	ORPHA:287
HP:0005656	Positional foot deformity	1289	COL5A1	ORPHA:287
HP:0005656	Positional foot deformity	1290	COL5A2	ORPHA:287
HP:0005656	Positional foot deformity	1290	COL5A2	OMIM:130010
HP:0005656	Positional foot deformity	1281	COL3A1	ORPHA:286
HP:0005656	Positional foot deformity	1281	COL3A1	OMIM:618343
HP:0005656	Positional foot deformity	1281	COL3A1	OMIM:130050
HP:0005656	Positional foot deformity	10815	CPLX1	ORPHA:280
HP:0005656	Positional foot deformity	10815	CPLX1	OMIM:194190
HP:0005656	Positional foot deformity	54872	PIGG	ORPHA:280
HP:0005656	Positional foot deformity	7469	NELFA	ORPHA:280
HP:0005656	Positional foot deformity	1487	CTBP1	ORPHA:280
HP:0005656	Positional foot deformity	1487	CTBP1	OMIM:194190
HP:0005656	Positional foot deformity	3954	LETM1	ORPHA:280
HP:0005656	Positional foot deformity	3954	LETM1	OMIM:194190
HP:0005656	Positional foot deformity	7468	NSD2	ORPHA:280
HP:0005656	Positional foot deformity	7468	NSD2	OMIM:194190
HP:0005656	Positional foot deformity	22872	SEC31A	OMIM:618651
HP:0005656	Positional foot deformity	57498	KIDINS220	OMIM:619501
HP:0005656	Positional foot deformity	5442	POLRMT	OMIM:619743
HP:0005656	Positional foot deformity	23327	NEDD4L	OMIM:617201
HP:0005656	Positional foot deformity	8642	DCHS1	OMIM:601390
HP:0005656	Positional foot deformity	8642	DCHS1	ORPHA:314679
HP:0005656	Positional foot deformity	26040	SETBP1	OMIM:269150
HP:0005656	Positional foot deformity	8241	RBM10	OMIM:311900
HP:0005656	Positional foot deformity	8241	RBM10	ORPHA:2886
HP:0005656	Positional foot deformity	9935	MAFB	ORPHA:233
HP:0005656	Positional foot deformity	1123	CHN1	ORPHA:233
HP:0005656	Positional foot deformity	59341	TRPV4	OMIM:600175
HP:0005656	Positional foot deformity	59341	TRPV4	OMIM:181405
HP:0005656	Positional foot deformity	79659	DYNC2H1	OMIM:613091
HP:0005656	Positional foot deformity	92482	BBIP1	ORPHA:110
HP:0005656	Positional foot deformity	11020	IFT27	ORPHA:110
HP:0005656	Positional foot deformity	582	BBS1	ORPHA:110
HP:0005656	Positional foot deformity	49855	SCAPER	ORPHA:110
HP:0005656	Positional foot deformity	4867	NPHP1	ORPHA:110
HP:0005656	Positional foot deformity	51057	WDPCP	ORPHA:110
HP:0005656	Positional foot deformity	132320	SCLT1	ORPHA:110
HP:0005656	Positional foot deformity	27241	BBS9	ORPHA:110
HP:0005656	Positional foot deformity	84984	CEP19	ORPHA:110
HP:0005656	Positional foot deformity	22954	TRIM32	ORPHA:110
HP:0005656	Positional foot deformity	79738	BBS10	ORPHA:110
HP:0005656	Positional foot deformity	123016	TTC8	ORPHA:110
HP:0005656	Positional foot deformity	26160	IFT172	ORPHA:110
HP:0005656	Positional foot deformity	583	BBS2	ORPHA:110
HP:0005656	Positional foot deformity	585	BBS4	ORPHA:110
HP:0005656	Positional foot deformity	8195	MKKS	ORPHA:110
HP:0005656	Positional foot deformity	54585	LZTFL1	ORPHA:110
HP:0005656	Positional foot deformity	55212	BBS7	ORPHA:110
HP:0005656	Positional foot deformity	166379	BBS12	ORPHA:110
HP:0005656	Positional foot deformity	10806	SDCCAG8	ORPHA:110
HP:0005656	Positional foot deformity	157657	CFAP418	ORPHA:110
HP:0005656	Positional foot deformity	84100	ARL6	ORPHA:110
HP:0005656	Positional foot deformity	129880	BBS5	ORPHA:110
HP:0005656	Positional foot deformity	80173	IFT74	ORPHA:110
HP:0005656	Positional foot deformity	11285	B4GALT7	OMIM:130070
HP:0005656	Positional foot deformity	3572	IL6ST	OMIM:619752
HP:0005656	Positional foot deformity	10717	AP4B1	OMIM:614066
HP:0005656	Positional foot deformity	91574	MTRFR	OMIM:615035
HP:0005656	Positional foot deformity	91574	MTRFR	ORPHA:320375
HP:0005656	Positional foot deformity	11154	AP4S1	OMIM:614067
HP:0005656	Positional foot deformity	7862	BRPF1	OMIM:617333
HP:0005656	Positional foot deformity	55773	TBC1D23	OMIM:617695
HP:0005656	Positional foot deformity	51633	OTUD6B	OMIM:617452
HP:0005656	Positional foot deformity	51633	OTUD6B	ORPHA:505237
HP:0005656	Positional foot deformity	84665	MYPN	OMIM:617336
HP:0005656	Positional foot deformity	286	ANK1	ORPHA:251066
HP:0005656	Positional foot deformity	145258	GSC	OMIM:602471
HP:0005656	Positional foot deformity	8898	MTMR2	OMIM:601382
HP:0005656	Positional foot deformity	79796	ALG9	ORPHA:79328
HP:0005656	Positional foot deformity	8314	BAP1	OMIM:619762
HP:0005656	Positional foot deformity	163175	LGI4	OMIM:617468
HP:0005656	Positional foot deformity	6901	TAFAZZIN	OMIM:302060
HP:0005656	Positional foot deformity	79633	FAT4	ORPHA:314679
HP:0005656	Positional foot deformity	79633	FAT4	OMIM:615546
HP:0005656	Positional foot deformity	57688	ZSWIM6	OMIM:603671
HP:0005656	Positional foot deformity	57688	ZSWIM6	ORPHA:1827
HP:0005656	Positional foot deformity	57688	ZSWIM6	OMIM:617865
HP:0005656	Positional foot deformity	124583	CANT1	OMIM:251450
HP:0005656	Positional foot deformity	4626	MYH8	OMIM:158300
HP:0005656	Positional foot deformity	23299	BICD2	OMIM:615290
HP:0005656	Positional foot deformity	23299	BICD2	OMIM:618291
HP:0005656	Positional foot deformity	7030	TFE3	OMIM:301066
HP:0005656	Positional foot deformity	2239	GPC4	ORPHA:373
HP:0005656	Positional foot deformity	2239	GPC4	OMIM:312870
HP:0005656	Positional foot deformity	2719	GPC3	ORPHA:373
HP:0005656	Positional foot deformity	2719	GPC3	OMIM:312870
HP:0005656	Positional foot deformity	51651	PTRH2	OMIM:616263
HP:0005656	Positional foot deformity	339855	KY	OMIM:617114
HP:0005656	Positional foot deformity	339855	KY	ORPHA:496689
HP:0005656	Positional foot deformity	23483	TGDS	OMIM:616145
HP:0005656	Positional foot deformity	2006	ELN	ORPHA:90348
HP:0005656	Positional foot deformity	10516	FBLN5	ORPHA:90348
HP:0005656	Positional foot deformity	5832	ALDH18A1	ORPHA:90348
HP:0005656	Positional foot deformity	5832	ALDH18A1	OMIM:219150
HP:0005656	Positional foot deformity	5832	ALDH18A1	OMIM:616603
HP:0005656	Positional foot deformity	4733	DRG1	OMIM:620641
HP:0005656	Positional foot deformity	79087	ALG12	ORPHA:79324
HP:0005656	Positional foot deformity	79087	ALG12	OMIM:607143
HP:0005656	Positional foot deformity	79053	ALG8	ORPHA:79325
HP:0005656	Positional foot deformity	79053	ALG8	OMIM:608104
HP:0005656	Positional foot deformity	79628	SH3TC2	OMIM:601596
HP:0005656	Positional foot deformity	10195	ALG3	OMIM:601110
HP:0005656	Positional foot deformity	1917	EEF1A2	OMIM:616393
HP:0005656	Positional foot deformity	58497	PRUNE1	OMIM:617481
HP:0005656	Positional foot deformity	9427	ECEL1	OMIM:615065
HP:0005656	Positional foot deformity	7046	TGFBR1	OMIM:609192
HP:0005656	Positional foot deformity	7046	TGFBR1	OMIM:132800
HP:0005656	Positional foot deformity	5910	RAP1GDS1	OMIM:620655
HP:0005656	Positional foot deformity	1674	DES	OMIM:181400
HP:0005656	Positional foot deformity	389827	MYMK	OMIM:254940
HP:0005656	Positional foot deformity	389827	MYMK	ORPHA:1358
HP:0005656	Positional foot deformity	2879	GPX4	OMIM:250220
HP:0005656	Positional foot deformity	9488	PIGB	OMIM:618580
HP:0005656	Positional foot deformity	1291	COL6A1	OMIM:254090
HP:0005656	Positional foot deformity	5351	PLOD1	OMIM:225400
HP:0005656	Positional foot deformity	5351	PLOD1	ORPHA:1900
HP:0005656	Positional foot deformity	160418	TMTC3	OMIM:617255
HP:0005656	Positional foot deformity	1317	SLC31A1	OMIM:620306
HP:0005656	Positional foot deformity	6885	MAP3K7	OMIM:617137
HP:0005656	Positional foot deformity	23314	SATB2	ORPHA:251028
HP:0005656	Positional foot deformity	23314	SATB2	ORPHA:251019
HP:0005656	Positional foot deformity	23314	SATB2	OMIM:612313
HP:0005656	Positional foot deformity	6091	ROBO1	OMIM:620305
HP:0005656	Positional foot deformity	170689	ADAMTS15	OMIM:620545
HP:0005656	Positional foot deformity	9256	TSPOAP1	ORPHA:101150
HP:0005656	Positional foot deformity	7054	TH	ORPHA:101150
HP:0005656	Positional foot deformity	84320	ACBD6	OMIM:620785
HP:0005656	Positional foot deformity	10733	PLK4	OMIM:616171
HP:0005656	Positional foot deformity	7707	ZNF148	OMIM:617260
HP:0005656	Positional foot deformity	91754	NEK9	OMIM:617022
HP:0005656	Positional foot deformity	117581	TWIST2	OMIM:200110
HP:0005656	Positional foot deformity	117581	TWIST2	OMIM:209885
HP:0005656	Positional foot deformity	6263	RYR3	OMIM:620310
HP:0005656	Positional foot deformity	9179	AP4M1	OMIM:612936
HP:0005656	Positional foot deformity	1491	CTH	ORPHA:212
HP:0005656	Positional foot deformity	5980	REV3L	ORPHA:570
HP:0005656	Positional foot deformity	23129	PLXND1	ORPHA:570
HP:0005656	Positional foot deformity	3039	HBA1	ORPHA:98791
HP:0005656	Positional foot deformity	3040	HBA2	ORPHA:98791
HP:0005656	Positional foot deformity	4998	ORC1	OMIM:224690
HP:0005656	Positional foot deformity	23345	SYNE1	OMIM:618484
HP:0005656	Positional foot deformity	64856	VWA1	OMIM:619216
HP:0005656	Positional foot deformity	1312	COMT	ORPHA:567
HP:0005656	Positional foot deformity	221037	JMJD1C	ORPHA:567
HP:0005656	Positional foot deformity	2812	GP1BB	ORPHA:567
HP:0005656	Positional foot deformity	6239	RREB1	ORPHA:567
HP:0005656	Positional foot deformity	7290	HIRA	ORPHA:567
HP:0005656	Positional foot deformity	9632	SEC24C	ORPHA:567
HP:0005656	Positional foot deformity	7353	UFD1	ORPHA:567
HP:0005656	Positional foot deformity	421	ARVCF	ORPHA:567
HP:0005656	Positional foot deformity	4547	MTTP	ORPHA:14
HP:0005656	Positional foot deformity	2064	ERBB2	OMIM:619465
HP:0005656	Positional foot deformity	84896	ATAD1	OMIM:618011
HP:0005656	Positional foot deformity	51715	RAB23	ORPHA:65759
HP:0005656	Positional foot deformity	1954	MEGF8	ORPHA:65759
HP:0005656	Positional foot deformity	1954	MEGF8	OMIM:614976
HP:0005656	Positional foot deformity	9244	CRLF1	OMIM:272430
HP:0005656	Positional foot deformity	23594	ORC6	OMIM:613803
HP:0005656	Positional foot deformity	84265	POLR3GL	OMIM:619234
HP:0005656	Positional foot deformity	80347	COASY	OMIM:618266
HP:0005656	Positional foot deformity	54809	SAMD9	OMIM:617053
HP:0005656	Positional foot deformity	57003	CCDC47	OMIM:618268
HP:0005656	Positional foot deformity	10526	IPO8	OMIM:619472
HP:0005656	Positional foot deformity	29895	MYL11	OMIM:619110
HP:0005656	Positional foot deformity	6711	SPTBN1	OMIM:619475
HP:0005656	Positional foot deformity	2033	EP300	OMIM:180849
HP:0005656	Positional foot deformity	1387	CREBBP	OMIM:180849
HP:0005656	Positional foot deformity	1836	SLC26A2	ORPHA:628
HP:0005656	Positional foot deformity	1836	SLC26A2	OMIM:256050
HP:0005656	Positional foot deformity	1836	SLC26A2	OMIM:226900
HP:0005656	Positional foot deformity	1836	SLC26A2	ORPHA:93298
HP:0005656	Positional foot deformity	1836	SLC26A2	ORPHA:93307
HP:0005656	Positional foot deformity	1836	SLC26A2	OMIM:222600
HP:0005656	Positional foot deformity	246329	STAC3	ORPHA:168572
HP:0005656	Positional foot deformity	25839	COG4	OMIM:618150
HP:0005656	Positional foot deformity	25839	COG4	ORPHA:85172
HP:0005656	Positional foot deformity	113189	CHST14	OMIM:601776
HP:0005656	Positional foot deformity	2571	GAD1	OMIM:619124
HP:0005656	Positional foot deformity	285590	SH3PXD2B	OMIM:249420
HP:0005656	Positional foot deformity	374879	ZNF699	OMIM:619488
HP:0005656	Positional foot deformity	57477	SHROOM4	ORPHA:85288
HP:0005656	Positional foot deformity	64093	SMOC1	OMIM:206920
HP:0005656	Positional foot deformity	64093	SMOC1	ORPHA:1106
HP:0005656	Positional foot deformity	50485	SMARCAL1	OMIM:242900
HP:0005656	Positional foot deformity	126792	B3GALT6	OMIM:271640
HP:0005656	Positional foot deformity	126792	B3GALT6	ORPHA:536467
HP:0005656	Positional foot deformity	126792	B3GALT6	OMIM:615349
HP:0005656	Positional foot deformity	80267	EDEM3	OMIM:619493
HP:0005656	Positional foot deformity	8242	KDM5C	ORPHA:85279
HP:0005656	Positional foot deformity	8242	KDM5C	OMIM:300534
HP:0005656	Positional foot deformity	2733	GLE1	OMIM:611890
HP:0005656	Positional foot deformity	26276	VPS33B	OMIM:620009
HP:0005656	Positional foot deformity	60386	SLC25A19	OMIM:613710
HP:0005656	Positional foot deformity	1968	EIF2S3	ORPHA:85282
HP:0005656	Positional foot deformity	3295	HSD17B4	OMIM:261515
HP:0005656	Positional foot deformity	3295	HSD17B4	OMIM:233400
HP:0005656	Positional foot deformity	219844	HYLS1	OMIM:236680
HP:0005656	Positional foot deformity	8139	GAN	ORPHA:643
HP:0005656	Positional foot deformity	8139	GAN	OMIM:256850
HP:0005656	Positional foot deformity	6913	TBX15	OMIM:260660
HP:0005656	Positional foot deformity	8516	ITGA8	OMIM:191830
HP:0005656	Positional foot deformity	25793	FBXO7	OMIM:260300
HP:0005656	Positional foot deformity	25793	FBXO7	ORPHA:171695
HP:0005656	Positional foot deformity	4233	MET	OMIM:620019
HP:0005656	Positional foot deformity	7042	TGFB2	OMIM:614816
HP:0005656	Positional foot deformity	65055	REEP1	OMIM:620011
HP:0005656	Positional foot deformity	90952	ESAM	OMIM:620371
HP:0005656	Positional foot deformity	168667	BMPER	OMIM:608022
HP:0005656	Positional foot deformity	2643	GCH1	OMIM:128230
HP:0005656	Positional foot deformity	2643	GCH1	ORPHA:98808
HP:0005656	Positional foot deformity	199857	ALG14	OMIM:619036
HP:0005656	Positional foot deformity	10262	SF3B4	OMIM:154400
HP:0005656	Positional foot deformity	10262	SF3B4	ORPHA:1788
HP:0005656	Positional foot deformity	7355	SLC35A2	ORPHA:356961
HP:0005656	Positional foot deformity	775	CACNA1C	OMIM:620029
HP:0005656	Positional foot deformity	8854	ALDH1A2	OMIM:620025
HP:0005656	Positional foot deformity	81839	VANGL1	ORPHA:3027
HP:0005656	Positional foot deformity	80199	FUZ	ORPHA:3027
HP:0005656	Positional foot deformity	5352	PLOD2	OMIM:609220
HP:0005656	Positional foot deformity	5352	PLOD2	ORPHA:2771
HP:0005656	Positional foot deformity	64324	NSD1	ORPHA:821
HP:0005656	Positional foot deformity	64324	NSD1	ORPHA:3447
HP:0005656	Positional foot deformity	10297	APC2	ORPHA:821
HP:0005656	Positional foot deformity	9401	RECQL4	OMIM:268400
HP:0005656	Positional foot deformity	9496	TBX4	ORPHA:238578
HP:0005656	Positional foot deformity	57222	ERGIC1	OMIM:208100
HP:0005656	Positional foot deformity	4649	MYO9A	OMIM:618198
HP:0005656	Positional foot deformity	6812	STXBP1	ORPHA:495818
HP:0005656	Positional foot deformity	22858	CILK1	OMIM:612651
HP:0005656	Positional foot deformity	55788	LMBRD1	OMIM:277380
HP:0005656	Positional foot deformity	23431	AP4E1	OMIM:613744
HP:0005656	Positional foot deformity	25782	RAB3GAP2	OMIM:212720
HP:0005656	Positional foot deformity	9382	COG1	OMIM:611209
HP:0005656	Positional foot deformity	9382	COG1	ORPHA:263508
HP:0005656	Positional foot deformity	3549	IHH	ORPHA:93388
HP:0005656	Positional foot deformity	8200	GDF5	ORPHA:93388
HP:0005656	Positional foot deformity	8200	GDF5	OMIM:610017
HP:0005656	Positional foot deformity	8200	GDF5	OMIM:113100
HP:0005656	Positional foot deformity	658	BMPR1B	ORPHA:93388
HP:0005656	Positional foot deformity	658	BMPR1B	OMIM:609441
HP:0005656	Positional foot deformity	6595	SMARCA2	OMIM:619293
HP:0005656	Positional foot deformity	1146	CHRNG	OMIM:265000
HP:0005656	Positional foot deformity	274	BIN1	OMIM:255200
HP:0005656	Positional foot deformity	274	BIN1	ORPHA:169186
HP:0005656	Positional foot deformity	5119	CHMP1A	OMIM:614961
HP:0005656	Positional foot deformity	23522	KAT6B	OMIM:606170
HP:0005656	Positional foot deformity	23522	KAT6B	ORPHA:85201
HP:0005656	Positional foot deformity	546	ATRX	ORPHA:847
HP:0005656	Positional foot deformity	546	ATRX	OMIM:309580
HP:0005656	Positional foot deformity	546	ATRX	OMIM:301040
HP:0005656	Positional foot deformity	57190	SELENON	ORPHA:2020
HP:0005656	Positional foot deformity	58	ACTA1	ORPHA:2020
HP:0005656	Positional foot deformity	4633	MYL2	ORPHA:2020
HP:0005656	Positional foot deformity	3679	ITGA7	ORPHA:2020
HP:0005656	Positional foot deformity	9200	HACD1	ORPHA:2020
HP:0005656	Positional foot deformity	7170	TPM3	ORPHA:2020
HP:0005656	Positional foot deformity	51776	MAP3K20	ORPHA:2020
HP:0005656	Positional foot deformity	10682	EBP	ORPHA:35173
HP:0005656	Positional foot deformity	79813	EHMT1	OMIM:610253
HP:0005656	Positional foot deformity	23545	ATP6V0A2	OMIM:278250
HP:0005656	Positional foot deformity	2218	FKTN	OMIM:611588
HP:0005656	Positional foot deformity	53834	FGFRL1	OMIM:194190
HP:0005656	Positional foot deformity	3265	HRAS	OMIM:218040
HP:0005656	Positional foot deformity	2395	FXN	ORPHA:95
HP:0005656	Positional foot deformity	121512	FGD4	OMIM:609311
HP:0005656	Positional foot deformity	5376	PMP22	ORPHA:3115
HP:0005656	Positional foot deformity	4359	MPZ	ORPHA:3115
HP:0005656	Positional foot deformity	4593	MUSK	OMIM:208150
HP:0005656	Positional foot deformity	5828	PEX2	OMIM:614866
HP:0005656	Positional foot deformity	79753	SNIP1	OMIM:614501
HP:0005656	Positional foot deformity	54499	TMCO1	OMIM:213980
HP:0005656	Positional foot deformity	11128	POLR3A	OMIM:264090
HP:0005656	Positional foot deformity	55165	CEP55	OMIM:236500
HP:0005656	Positional foot deformity	1303	COL12A1	ORPHA:536516
HP:0005656	Positional foot deformity	55670	PEX26	OMIM:614872
HP:0005656	Positional foot deformity	7443	VRK1	OMIM:607596
HP:0005656	Positional foot deformity	3911	LAMA5	OMIM:620076
HP:0005656	Positional foot deformity	9101	USP8	ORPHA:401795
HP:0005656	Positional foot deformity	132884	EVC2	OMIM:225500
HP:0005656	Positional foot deformity	2121	EVC	OMIM:225500
HP:0005656	Positional foot deformity	4088	SMAD3	OMIM:613795
HP:0005656	Positional foot deformity	6611	SMS	OMIM:309583
HP:0005656	Positional foot deformity	2146	EZH2	OMIM:277590
HP:0005656	Positional foot deformity	2146	EZH2	ORPHA:3447
HP:0005656	Positional foot deformity	7048	TGFBR2	OMIM:610168
HP:0005656	Positional foot deformity	55679	LIMS2	OMIM:616827
HP:0005656	Positional foot deformity	147372	CCBE1	OMIM:235510
HP:0005656	Positional foot deformity	3098	HK1	ORPHA:99953
HP:0005656	Positional foot deformity	23512	SUZ12	ORPHA:3447
HP:0005656	Positional foot deformity	9775	EIF4A3	OMIM:268305
HP:0005656	Positional foot deformity	6622	SNCA	ORPHA:171695
HP:0005656	Positional foot deformity	667	DST	OMIM:614653
HP:0005656	Positional foot deformity	2316	FLNA	OMIM:309350
HP:0005656	Positional foot deformity	10664	CTCF	OMIM:615502
HP:0005656	Positional foot deformity	57410	SCYL1	OMIM:616719
HP:0005656	Positional foot deformity	57410	SCYL1	ORPHA:466794
HP:0005656	Positional foot deformity	3315	HSPB1	ORPHA:99940
HP:0005656	Positional foot deformity	10290	SPEG	ORPHA:169186
HP:0005656	Positional foot deformity	7273	TTN	ORPHA:169186
HP:0005656	Positional foot deformity	55906	ZC4H2	OMIM:301041
HP:0005656	Positional foot deformity	55906	ZC4H2	OMIM:314580
HP:0005656	Positional foot deformity	9158	FIBP	ORPHA:500095
HP:0005656	Positional foot deformity	579	NKX3-2	OMIM:613330
HP:0005656	Positional foot deformity	2632	GBE1	OMIM:232500
HP:0005656	Positional foot deformity	2290	FOXG1	OMIM:613454
HP:0005656	Positional foot deformity	55593	OTUD5	OMIM:301056
HP:0005656	Positional foot deformity	9150	CTDP1	OMIM:604168
HP:0005656	Positional foot deformity	91179	SCARF2	OMIM:600920
HP:0005656	Positional foot deformity	113179	ADAT3	ORPHA:363528
HP:0005656	Positional foot deformity	84162	BLTP1	OMIM:617822
HP:0005656	Positional foot deformity	1278	COL1A2	OMIM:617821
HP:0005656	Positional foot deformity	55784	MCTP2	ORPHA:1596
HP:0005656	Positional foot deformity	55033	FKBP14	OMIM:614557
HP:0005656	Positional foot deformity	3897	L1CAM	OMIM:303350
HP:0005656	Positional foot deformity	54820	NDE1	OMIM:605013
HP:0005656	Positional foot deformity	2891	GRIA2	OMIM:618917
HP:0005656	Positional foot deformity	101929726	MYMX	ORPHA:1358
HP:0005656	Positional foot deformity	54808	DYM	OMIM:223800
HP:0005656	Positional foot deformity	64135	IFIH1	OMIM:182250
HP:0005656	Positional foot deformity	5530	PPP3CA	OMIM:617711
HP:0005656	Positional foot deformity	57211	ADGRG6	OMIM:616503
HP:0005656	Positional foot deformity	284086	NEK8	OMIM:615415
HP:0005656	Positional foot deformity	29940	DSE	OMIM:615539
HP:0005656	Positional foot deformity	84342	COG8	OMIM:611182
HP:0005656	Positional foot deformity	79576	NKAP	OMIM:301039
HP:0005656	Positional foot deformity	57449	PLEKHG5	OMIM:611067
HP:0005656	Positional foot deformity	57531	HACE1	OMIM:616756
HP:0005656	Positional foot deformity	9419	CRIPT	OMIM:615789
HP:0005656	Positional foot deformity	29980	DONSON	OMIM:251230
HP:0005656	Positional foot deformity	340075	ARSI	ORPHA:401815
HP:0005656	Positional foot deformity	4929	NR4A2	ORPHA:98808
HP:0005656	Positional foot deformity	3615	IMPDH2	ORPHA:98808
HP:0005656	Positional foot deformity	1861	TOR1A	OMIM:618947
HP:0005656	Positional foot deformity	285175	UNC80	ORPHA:371364
HP:0005656	Positional foot deformity	54880	BCOR	OMIM:300166
HP:0005656	Positional foot deformity	5297	PI4KA	OMIM:616531
HP:0005656	Positional foot deformity	953	ENTPD1	OMIM:615683
HP:0005656	Positional foot deformity	10293	TRAIP	OMIM:616777
HP:0005656	Positional foot deformity	8292	COLQ	ORPHA:98915
HP:0005656	Positional foot deformity	3913	LAMB2	ORPHA:98915
HP:0005656	Positional foot deformity	54676	GTPBP2	OMIM:617988
HP:0005656	Positional foot deformity	113246	C12orf57	OMIM:218340
HP:0005656	Positional foot deformity	2273	FHL1	OMIM:300280
HP:0005656	Positional foot deformity	139285	AMER1	OMIM:300373
HP:0005656	Positional foot deformity	6497	SKI	OMIM:182212
HP:0005656	Positional foot deformity	9321	TRIP11	OMIM:200600
HP:0005656	Positional foot deformity	2990	GUSB	OMIM:253220
HP:0005656	Positional foot deformity	55191	NADSYN1	OMIM:618845
HP:0005656	Positional foot deformity	23389	MED13L	OMIM:616789
HP:0005656	Positional foot deformity	9939	RBM8A	OMIM:274000
HP:0005656	Positional foot deformity	1807	DPYS	OMIM:222748
HP:0005656	Positional foot deformity	26229	B3GAT3	OMIM:245600
HP:0005656	Positional foot deformity	5307	PITX1	OMIM:119800
HP:0005656	Positional foot deformity	22978	NT5C2	OMIM:613162
HP:0005656	Positional foot deformity	7043	TGFB3	OMIM:615582
HP:0005656	Positional foot deformity	523	ATP6V1A	OMIM:617403
HP:0005656	Positional foot deformity	547	KIF1A	OMIM:614255
HP:0005656	Positional foot deformity	529	ATP6V1E1	OMIM:617402
HP:0005656	Positional foot deformity	8449	DHX16	OMIM:618733
HP:0005656	Positional foot deformity	157570	ESCO2	OMIM:268300
HP:0005656	Positional foot deformity	8218	CLTCL1	ORPHA:453510
HP:0005656	Positional foot deformity	9675	TTI1	OMIM:620445
HP:0005656	Positional foot deformity	7920	ABHD16A	OMIM:619735
HP:0005656	Positional foot deformity	1182	CLCN3	OMIM:619512
HP:0005656	Positional foot deformity	84879	MFSD2A	OMIM:616486
HP:0005656	Positional foot deformity	8506	CNTNAP1	OMIM:618186
HP:0005656	Positional foot deformity	348180	CTU2	OMIM:618142
HP:0005656	Positional foot deformity	340419	RSPO2	OMIM:618022
HP:0005656	Positional foot deformity	92002	CCNQ	OMIM:300707
HP:0005656	Positional foot deformity	23040	MYT1L	OMIM:616521
HP:0005656	Positional foot deformity	80036	TRPM3	OMIM:620224
HP:0005656	Positional foot deformity	4125	MAN2B1	ORPHA:309282
HP:0005656	Positional foot deformity	6857	SYT1	ORPHA:522077
HP:0005656	Positional foot deformity	5594	MAPK1	OMIM:619087
HP:0005656	Positional foot deformity	10730	YME1L1	OMIM:617302
HP:0005656	Positional foot deformity	7291	TWIST1	OMIM:617746
HP:0005656	Positional foot deformity	23169	SLC35D1	OMIM:269250
HP:0005656	Positional foot deformity	7547	ZIC3	OMIM:306955
HP:0005656	Positional foot deformity	342035	GLDN	OMIM:617194
HP:0005656	Positional foot deformity	4123	MAN2C1	OMIM:619775
HP:0005656	Positional foot deformity	55120	FANCL	OMIM:614083
HP:0005656	Positional foot deformity	9487	PIGL	OMIM:280000
HP:0005656	Positional foot deformity	29968	PSAT1	ORPHA:284417
HP:0005656	Positional foot deformity	1496	CTNNA2	OMIM:618174
HP:0005656	Positional foot deformity	8985	PLOD3	OMIM:612394
HP:0005656	Positional foot deformity	2720	GLB1	OMIM:253010
HP:0005656	Positional foot deformity	7319	UBE2A	ORPHA:163956
HP:0005656	Positional foot deformity	11193	WBP4	OMIM:620852
HP:0005656	Positional foot deformity	6638	SNRPN	ORPHA:177907
HP:0005656	Positional foot deformity	6811	STX5	OMIM:620454
HP:0005656	Positional foot deformity	9230	RAB11B	OMIM:617807
HP:0005656	Positional foot deformity	9949	AMMECR1	OMIM:300990
HP:0005656	Positional foot deformity	23476	BRD4	ORPHA:199
HP:0005656	Positional foot deformity	9126	SMC3	ORPHA:199
HP:0005656	Positional foot deformity	8243	SMC1A	ORPHA:199
HP:0005656	Positional foot deformity	8243	SMC1A	OMIM:301044
HP:0005656	Positional foot deformity	6878	TAF6	ORPHA:199
HP:0005656	Positional foot deformity	25836	NIPBL	ORPHA:199
HP:0005656	Positional foot deformity	55869	HDAC8	ORPHA:199
HP:0005656	Positional foot deformity	5885	RAD21	ORPHA:199
HP:0005656	Positional foot deformity	5885	RAD21	ORPHA:502
HP:0005656	Positional foot deformity	2737	GLI3	ORPHA:672
HP:0005656	Positional foot deformity	1718	DHCR24	OMIM:602398
HP:0005656	Positional foot deformity	1718	DHCR24	ORPHA:35107
HP:0005656	Positional foot deformity	6309	SC5D	ORPHA:46059
HP:0005656	Positional foot deformity	285489	DOK7	OMIM:618389
HP:0005656	Positional foot deformity	64327	LMBR1	ORPHA:2378
HP:0005656	Positional foot deformity	1778	DYNC1H1	OMIM:614228
HP:0005656	Positional foot deformity	79770	TXNDC15	OMIM:619879
HP:0005656	Positional foot deformity	79770	TXNDC15	ORPHA:564
HP:0005656	Positional foot deformity	4703	NEB	OMIM:256030
HP:0005656	Positional foot deformity	2131	EXT1	ORPHA:502
HP:0005656	Positional foot deformity	7227	TRPS1	ORPHA:502
HP:0005656	Positional foot deformity	5447	POR	ORPHA:95699
HP:0005656	Positional foot deformity	6299	SALL1	OMIM:107480
HP:0005656	Positional foot deformity	23498	HAAO	OMIM:617660
HP:0005656	Positional foot deformity	6261	RYR1	OMIM:117000
HP:0005656	Positional foot deformity	55640	FLVCR2	OMIM:225790
HP:0005656	Positional foot deformity	8942	KYNU	OMIM:617661
HP:0005656	Positional foot deformity	54101	RIPK4	ORPHA:1234
HP:0005656	Positional foot deformity	54487	DGCR8	OMIM:192430
HP:0005656	Positional foot deformity	6899	TBX1	OMIM:192430
HP:0005656	Positional foot deformity	8214	DGCR6	OMIM:192430
HP:0005656	Positional foot deformity	8220	ESS2	OMIM:192430
HP:0005656	Positional foot deformity	9993	DGCR2	OMIM:192430
HP:0005656	Positional foot deformity	55636	CHD7	ORPHA:138
HP:0005656	Positional foot deformity	9723	SEMA3E	ORPHA:138
HP:0005656	Positional foot deformity	3516	RBPJ	ORPHA:974
HP:0005656	Positional foot deformity	4851	NOTCH1	ORPHA:974
HP:0005656	Positional foot deformity	57514	ARHGAP31	ORPHA:974
HP:0005656	Positional foot deformity	57572	DOCK6	ORPHA:974
HP:0005656	Positional foot deformity	285203	EOGT	ORPHA:974
HP:0005656	Positional foot deformity	54567	DLL4	ORPHA:974
HP:0005656	Positional foot deformity	6329	SCN4A	OMIM:620351
HP:0005656	Positional foot deformity	6329	SCN4A	OMIM:620369
HP:0005656	Positional foot deformity	63895	PIEZO2	ORPHA:376
HP:0005656	Positional foot deformity	63895	PIEZO2	ORPHA:2461
HP:0005656	Positional foot deformity	3930	LBR	OMIM:215140
HP:0005656	Positional foot deformity	4000	LMNA	ORPHA:157973
HP:0005656	Positional foot deformity	4000	LMNA	OMIM:613205
HP:0005656	Positional foot deformity	2200	FBN1	OMIM:154700
HP:0005656	Positional foot deformity	2068	ERCC2	ORPHA:1466
HP:0005656	Positional foot deformity	2067	ERCC1	ORPHA:1466
HP:0005656	Positional foot deformity	2074	ERCC6	ORPHA:1466
HP:0005656	Positional foot deformity	2073	ERCC5	ORPHA:1466
HP:0005656	Positional foot deformity	7140	TNNT3	ORPHA:1146
HP:0005656	Positional foot deformity	4621	MYH3	ORPHA:1146
HP:0005656	Positional foot deformity	7169	TPM2	ORPHA:1146
HP:0005656	Positional foot deformity	259232	NALCN	ORPHA:1146
HP:0005656	Positional foot deformity	7136	TNNI2	ORPHA:1146
HP:0005656	Positional foot deformity	4604	MYBPC1	ORPHA:1146
HP:0005656	Positional foot deformity	7476	WNT7A	ORPHA:2879
HP:0005656	Positional foot deformity	92344	GORAB	ORPHA:2078
HP:0005656	Positional foot deformity	5831	PYCR1	ORPHA:2078
HP:0005656	Positional foot deformity	9361	LONP1	ORPHA:79243
HP:0005656	Positional foot deformity	5160	PDHA1	ORPHA:79243
HP:0005656	Positional foot deformity	10225	CD96	ORPHA:1308
HP:0005656	Positional foot deformity	2317	FLNB	OMIM:108720
HP:0005656	Positional foot deformity	60681	FKBP10	ORPHA:1149
HP:0005656	Positional foot deformity	9217	VAPB	ORPHA:209335
HP:0005656	Positional foot deformity	22827	PUF60	ORPHA:508488
HP:0005656	Positional foot deformity	84314	TMEM107	ORPHA:564
HP:0005656	Positional foot deformity	26123	TCTN3	ORPHA:564
HP:0005656	Positional foot deformity	79867	TCTN2	ORPHA:564
HP:0005656	Positional foot deformity	80776	B9D2	ORPHA:564
HP:0005656	Positional foot deformity	79600	TCTN1	ORPHA:564
HP:0005656	Positional foot deformity	57096	RPGRIP1	ORPHA:564
HP:0005656	Positional foot deformity	79848	CSPP1	ORPHA:564
HP:0005656	Positional foot deformity	80184	CEP290	ORPHA:564
HP:0005656	Positional foot deformity	51259	TMEM216	ORPHA:564
HP:0005656	Positional foot deformity	57545	CC2D2A	ORPHA:564
HP:0005656	Positional foot deformity	79583	TMEM231	ORPHA:564
HP:0005656	Positional foot deformity	91147	TMEM67	ORPHA:564
HP:0005656	Positional foot deformity	27077	B9D1	ORPHA:564
HP:0005656	Positional foot deformity	23322	RPGRIP1L	ORPHA:564
HP:0005656	Positional foot deformity	54903	MKS1	ORPHA:564
HP:0005656	Positional foot deformity	54903	MKS1	OMIM:249000
HP:0005656	Positional foot deformity	65062	TMEM237	ORPHA:564
HP:0005656	Positional foot deformity	1760	DMPK	ORPHA:589821
HP:0005656	Positional foot deformity	774	CACNA1B	OMIM:618497
HP:0005656	Positional foot deformity	3977	LIFR	OMIM:601559
HP:0005656	Positional foot deformity	2703	GJA8	OMIM:612474
HP:0005656	Positional foot deformity	2702	GJA5	OMIM:612474
HP:0005656	Positional foot deformity	545	ATR	OMIM:210600
HP:0005656	Positional foot deformity	57167	SALL4	ORPHA:959
HP:0005656	Positional foot deformity	2245	FGD1	ORPHA:915
HP:0005656	Positional foot deformity	2313	FLI1	ORPHA:2308
HP:0005656	Positional foot deformity	1280	COL2A1	ORPHA:1856
HP:0005656	Positional foot deformity	5728	PTEN	ORPHA:137608
HP:0005656	Positional foot deformity	1717	DHCR7	OMIM:270400
HP:0005656	Positional foot deformity	1717	DHCR7	ORPHA:818
HP:0005656	Positional foot deformity	63894	VIPAS39	OMIM:613404
HP:0005656	Positional foot deformity	4747	NEFL	ORPHA:99939
HP:0005656	Positional foot deformity	55780	ERMARD	ORPHA:75857
HP:0005656	Positional foot deformity	8398	PLA2G6	OMIM:610217
HP:0005656	Positional foot deformity	23384	SPECC1L	OMIM:600251
HP:0005656	Positional foot deformity	10397	NDRG1	OMIM:601455
HP:0005656	Positional foot deformity	6872	TAF1	OMIM:300966
HP:0005656	Positional foot deformity	4625	MYH7	ORPHA:59135
HP:0005656	Positional foot deformity	56997	COQ8A	ORPHA:139485
HP:0005656	Positional foot deformity	79152	FA2H	ORPHA:171629
HP:0005656	Positional foot deformity	10352	WARS2	ORPHA:572798
HP:0005656	Positional foot deformity	55210	ATAD3A	ORPHA:496790
HP:0005656	Positional foot deformity	284058	KANSL1	OMIM:610443
HP:0005656	Positional foot deformity	284058	KANSL1	ORPHA:363965
HP:0005656	Positional foot deformity	284058	KANSL1	ORPHA:363958
HP:0005656	Positional foot deformity	27145	FILIP1	OMIM:620775
HP:0005656	Positional foot deformity	1737	DLAT	ORPHA:79244
HP:0031790	Mixed astigmatism	60509	AGBL5	OMIM:617023
HP:0031792	Irregular astigmatism	83959	SLC4A11	ORPHA:293603
HP:0031792	Irregular astigmatism	1308	COL17A1	ORPHA:293381
HP:0031793	Increased serum leptin	109	ADCY3	OMIM:617885
HP:0031793	Increased serum leptin	4204	MECP2	ORPHA:778
HP:0031795	Abnormal circulating glycerol level	2710	GK	OMIM:307030
HP:0031796	Recurrent	5741	PTH	OMIM:146200
HP:0031796	Recurrent	593	BCKDHA	OMIM:248600
HP:0031796	Recurrent	8243	SMC1A	OMIM:301044
HP:0031796	Recurrent	135	ADORA2A	ORPHA:363549
HP:0031797	Clinical course	80144	FRAS1	ORPHA:2052
HP:0031797	Clinical course	23426	GRIP1	ORPHA:2052
HP:0031797	Clinical course	55627	SMPD4	OMIM:618622
HP:0031797	Clinical course	2731	GLDC	OMIM:605899
HP:0031797	Clinical course	5395	PMS2	ORPHA:144
HP:0031797	Clinical course	5378	PMS1	ORPHA:144
HP:0031797	Clinical course	249	ALPL	OMIM:241500
HP:0031797	Clinical course	80816	ASXL3	OMIM:615485
HP:0031797	Clinical course	4056	LTC4S	OMIM:614037
HP:0031797	Clinical course	10084	PQBP1	ORPHA:93946
HP:0031797	Clinical course	429	ASCL1	ORPHA:99803
HP:0031797	Clinical course	3899	AFF3	OMIM:619297
HP:0031797	Clinical course	150094	SIK1	OMIM:616341
HP:0031797	Clinical course	55681	SCYL2	OMIM:618766
HP:0031797	Clinical course	10013	HDAC6	ORPHA:163966
HP:0031797	Clinical course	128674	PROKR2	ORPHA:95496
HP:0031797	Clinical course	89884	LHX4	ORPHA:95496
HP:0031797	Clinical course	8820	HESX1	ORPHA:95496
HP:0031797	Clinical course	50937	CDON	ORPHA:95496
HP:0031797	Clinical course	23432	GPR161	ORPHA:95496
HP:0031797	Clinical course	9321	TRIP11	OMIM:184260
HP:0031797	Clinical course	9321	TRIP11	ORPHA:166272
HP:0031797	Clinical course	10436	EMG1	ORPHA:1270
HP:0031797	Clinical course	25802	LMOD1	ORPHA:2241
HP:0031797	Clinical course	4638	MYLK	ORPHA:2241
HP:0031797	Clinical course	2239	GPC4	ORPHA:373
HP:0031797	Clinical course	2719	GPC3	ORPHA:373
HP:0031797	Clinical course	54916	TMEM260	OMIM:617478
HP:0031797	Clinical course	51645	PPIL1	OMIM:619301
HP:0031797	Clinical course	91137	SLC25A46	OMIM:619303
HP:0031797	Clinical course	56052	ALG1	OMIM:608540
HP:0031797	Clinical course	9488	PIGB	OMIM:618580
HP:0031797	Clinical course	5980	REV3L	ORPHA:570
HP:0031797	Clinical course	2917	GRM7	OMIM:618922
HP:0031797	Clinical course	197131	UBR1	ORPHA:2315
HP:0031797	Clinical course	4905	NSF	OMIM:619340
HP:0031797	Clinical course	2313	FLI1	ORPHA:2308
HP:0031797	Clinical course	8087	FXR1	OMIM:618822
HP:0031797	Clinical course	8567	MADD	OMIM:619004
HP:0031797	Clinical course	55278	QRSL1	OMIM:618835
HP:0031797	Clinical course	283459	GATC	OMIM:618839
HP:0031797	Clinical course	55191	NADSYN1	OMIM:618845
HP:0031797	Clinical course	10225	CD96	ORPHA:1308
HP:0031797	Clinical course	23529	CLCF1	ORPHA:1545
HP:0031797	Clinical course	9244	CRLF1	ORPHA:1545
HP:0031797	Clinical course	28952	CCDC22	ORPHA:7
HP:0031797	Clinical course	56896	DPYSL5	ORPHA:7
HP:0031797	Clinical course	9054	NFS1	OMIM:619386
HP:0031797	Clinical course	131377	KLHL40	OMIM:615348
HP:0031797	Clinical course	3651	PDX1	OMIM:260370
HP:0031797	Clinical course	3858	KRT10	OMIM:607602
HP:0031797	Clinical course	3858	KRT10	OMIM:620150
HP:0031797	Clinical course	3858	KRT10	OMIM:620707
HP:0031797	Clinical course	55703	POLR3B	OMIM:614381
HP:0031797	Clinical course	55703	POLR3B	OMIM:607694
HP:0031797	Clinical course	23019	CNOT1	OMIM:618500
HP:0031797	Clinical course	776	CACNA1D	OMIM:615474
HP:0031797	Clinical course	776	CACNA1D	OMIM:614896
HP:0031797	Clinical course	2304	FOXE1	OMIM:241850
HP:0031797	Clinical course	5913	RAPSN	OMIM:616326
HP:0031797	Clinical course	79827	CLMP	OMIM:615237
HP:0031797	Clinical course	4593	MUSK	OMIM:616325
HP:0031797	Clinical course	4593	MUSK	OMIM:208150
HP:0031797	Clinical course	8573	CASK	OMIM:300908
HP:0031797	Clinical course	2539	G6PD	OMIM:300908
HP:0031797	Clinical course	7291	TWIST1	OMIM:123100
HP:0031797	Clinical course	7291	TWIST1	OMIM:617746
HP:0031797	Clinical course	1145	CHRNE	OMIM:616324
HP:0031797	Clinical course	1145	CHRNE	OMIM:605809
HP:0031797	Clinical course	7299	TYR	OMIM:203100
HP:0031797	Clinical course	121391	KRT74	OMIM:194300
HP:0031797	Clinical course	121391	KRT74	OMIM:614929
HP:0031797	Clinical course	4897	NRCAM	OMIM:619833
HP:0031797	Clinical course	1134	CHRNA1	OMIM:608930
HP:0031797	Clinical course	91147	TMEM67	OMIM:602152
HP:0031797	Clinical course	91147	TMEM67	OMIM:216360
HP:0031797	Clinical course	10021	HCN4	OMIM:163800
HP:0031797	Clinical course	5932	RBBP8	OMIM:606744
HP:0031797	Clinical course	5932	RBBP8	OMIM:251255
HP:0031797	Clinical course	23498	HAAO	OMIM:617660
HP:0031797	Clinical course	9578	CDC42BPB	OMIM:619841
HP:0031797	Clinical course	1855	DVL1	OMIM:616331
HP:0031797	Clinical course	1855	DVL1	OMIM:180700
HP:0031797	Clinical course	8942	KYNU	OMIM:617661
HP:0031797	Clinical course	283489	CHAMP1	OMIM:616579
HP:0031797	Clinical course	1841	DTYMK	OMIM:619847
HP:0031797	Clinical course	478	ATP1A3	OMIM:619606
HP:0031797	Clinical course	2137	EXTL3	OMIM:617425
HP:0031797	Clinical course	166378	AFG2A	OMIM:616577
HP:0031797	Clinical course	27229	TUBGCP4	OMIM:616335
HP:0031797	Clinical course	341640	FREM2	OMIM:617666
HP:0031797	Clinical course	84936	ZFYVE19	OMIM:619849
HP:0031797	Clinical course	84466	MEGF10	OMIM:614399
HP:0031797	Clinical course	84466	MEGF10	OMIM:620249
HP:0031797	Clinical course	25790	CFAP45	OMIM:619608
HP:0031797	Clinical course	1288	COL4A6	OMIM:300914
HP:0031797	Clinical course	3149	HMGB3	OMIM:300915
HP:0031797	Clinical course	318	NUDT2	OMIM:619844
HP:0031797	Clinical course	84197	POMK	OMIM:615249
HP:0031797	Clinical course	16	AARS1	OMIM:616339
HP:0031797	Clinical course	57545	CC2D2A	OMIM:619845
HP:0031797	Clinical course	57545	CC2D2A	OMIM:619111
HP:0031797	Clinical course	51112	TRAPPC12	OMIM:617669
HP:0031797	Clinical course	3508	IGHMBP2	OMIM:604320
HP:0031797	Clinical course	57082	KNL1	OMIM:604321
HP:0031797	Clinical course	79693	YRDC	OMIM:619609
HP:0031797	Clinical course	2188	FANCF	OMIM:603467
HP:0031797	Clinical course	284403	WDR62	OMIM:604317
HP:0031797	Clinical course	90	ACVR1	OMIM:135100
HP:0031797	Clinical course	4646	MYO6	OMIM:607821
HP:0031797	Clinical course	9071	CLDN10	OMIM:617671
HP:0031797	Clinical course	1020	CDK5	OMIM:616342
HP:0031797	Clinical course	1777	DNASE2	OMIM:619858
HP:0031797	Clinical course	54567	DLL4	OMIM:616589
HP:0031797	Clinical course	64359	NXN	OMIM:618529
HP:0031797	Clinical course	7436	VLDLR	OMIM:224050
HP:0031797	Clinical course	84100	ARL6	OMIM:209900
HP:0031797	Clinical course	84100	ARL6	OMIM:600151
HP:0031797	Clinical course	79140	CCDC28B	OMIM:209900
HP:0031797	Clinical course	582	BBS1	OMIM:209900
HP:0031797	Clinical course	79029	AFG2B	OMIM:619615
HP:0031797	Clinical course	1528	CYB5A	OMIM:250790
HP:0031797	Clinical course	25778	DSTYK	OMIM:610805
HP:0031797	Clinical course	26154	ABCA12	OMIM:601277
HP:0031797	Clinical course	26154	ABCA12	OMIM:242500
HP:0031797	Clinical course	4620	MYH2	OMIM:605637
HP:0031797	Clinical course	9401	RECQL4	OMIM:218600
HP:0031797	Clinical course	857	CAV1	OMIM:606721
HP:0031797	Clinical course	84733	CBX2	OMIM:613080
HP:0031797	Clinical course	10484	SEC23A	OMIM:607812
HP:0031797	Clinical course	6926	TBX3	OMIM:181450
HP:0031797	Clinical course	204219	CERS3	OMIM:615023
HP:0031797	Clinical course	285848	PNPLA1	OMIM:615024
HP:0031797	Clinical course	23327	NEDD4L	OMIM:617201
HP:0031797	Clinical course	7092	TLL1	OMIM:613087
HP:0031797	Clinical course	8550	MAPKAPK5	OMIM:619869
HP:0031797	Clinical course	168507	PKD1L1	OMIM:617205
HP:0031797	Clinical course	51761	ATP8A2	OMIM:615268
HP:0031797	Clinical course	1474	CST6	OMIM:618535
HP:0031797	Clinical course	6905	TBCE	OMIM:617207
HP:0031797	Clinical course	6905	TBCE	OMIM:241410
HP:0031797	Clinical course	5373	PMM2	OMIM:212065
HP:0031797	Clinical course	63901	FAM111A	OMIM:602361
HP:0031797	Clinical course	63901	FAM111A	OMIM:127000
HP:0031797	Clinical course	54345	SOX18	OMIM:137940
HP:0031797	Clinical course	126410	CYP4F22	OMIM:604777
HP:0031797	Clinical course	5337	PLD1	OMIM:212093
HP:0031797	Clinical course	5317	PKP1	OMIM:604536
HP:0031797	Clinical course	57822	GRHL3	OMIM:606713
HP:0031797	Clinical course	59341	TRPV4	OMIM:600175
HP:0031797	Clinical course	59341	TRPV4	OMIM:606071
HP:0031797	Clinical course	1187	CLCNKA	OMIM:613090
HP:0031797	Clinical course	1188	CLCNKB	OMIM:613090
HP:0031797	Clinical course	1188	CLCNKB	OMIM:607364
HP:0031797	Clinical course	2072	ERCC4	OMIM:615272
HP:0031797	Clinical course	113612	CYP2U1	OMIM:615030
HP:0031797	Clinical course	1186	CLCN7	OMIM:618541
HP:0031797	Clinical course	1770	DNAH9	OMIM:618300
HP:0031797	Clinical course	4284	MIP	OMIM:615274
HP:0031797	Clinical course	23126	POGZ	OMIM:616364
HP:0031797	Clinical course	55773	TBC1D23	OMIM:617695
HP:0031797	Clinical course	5314	PKHD1	OMIM:263200
HP:0031797	Clinical course	8558	CDK10	OMIM:617694
HP:0031797	Clinical course	808	CALM3	OMIM:618782
HP:0031797	Clinical course	57167	SALL4	OMIM:147750
HP:0031797	Clinical course	57167	SALL4	OMIM:607323
HP:0031797	Clinical course	55280	CWF19L1	OMIM:616127
HP:0031797	Clinical course	27125	AFF4	OMIM:616368
HP:0031797	Clinical course	1909	EDNRA	OMIM:616367
HP:0031797	Clinical course	79770	TXNDC15	OMIM:619879
HP:0031797	Clinical course	5727	PTCH1	OMIM:610828
HP:0031797	Clinical course	2736	GLI2	OMIM:610829
HP:0031797	Clinical course	10329	RXYLT1	OMIM:615041
HP:0031797	Clinical course	8818	DPM2	OMIM:615042
HP:0031797	Clinical course	30813	VSX1	OMIM:614195
HP:0031797	Clinical course	3913	LAMB2	OMIM:614199
HP:0031797	Clinical course	3913	LAMB2	OMIM:609049
HP:0031797	Clinical course	56098	PCDHGC4	OMIM:619880
HP:0031797	Clinical course	641	BLM	OMIM:210900
HP:0031797	Clinical course	2263	FGFR2	OMIM:123790
HP:0031797	Clinical course	2263	FGFR2	OMIM:614592
HP:0031797	Clinical course	2263	FGFR2	OMIM:101200
HP:0031797	Clinical course	2674	GFRA1	OMIM:619887
HP:0031797	Clinical course	2620	GAS2	OMIM:620877
HP:0031797	Clinical course	9772	TMEM94	OMIM:618316
HP:0031797	Clinical course	79971	WLS	OMIM:619648
HP:0031797	Clinical course	79728	PALB2	OMIM:610832
HP:0031797	Clinical course	57688	ZSWIM6	OMIM:603671
HP:0031797	Clinical course	1910	EDNRB	OMIM:600155
HP:0031797	Clinical course	1910	EDNRB	OMIM:600501
HP:0031797	Clinical course	3861	KRT14	OMIM:601001
HP:0031797	Clinical course	3861	KRT14	OMIM:131760
HP:0031797	Clinical course	442721	LMOD2	OMIM:619897
HP:0031797	Clinical course	3798	KIF5A	OMIM:617235
HP:0031797	Clinical course	23483	TGDS	OMIM:616145
HP:0031797	Clinical course	6603	SMARCD2	OMIM:617475
HP:0031797	Clinical course	285203	EOGT	OMIM:615297
HP:0031797	Clinical course	125988	MICOS13	OMIM:618329
HP:0031797	Clinical course	64919	BCL11B	OMIM:617237
HP:0031797	Clinical course	25836	NIPBL	OMIM:122470
HP:0031797	Clinical course	4087	SMAD2	OMIM:619656
HP:0031797	Clinical course	4087	SMAD2	OMIM:619657
HP:0031797	Clinical course	6533	SLC6A6	OMIM:145350
HP:0031797	Clinical course	2744	GLS	OMIM:618328
HP:0031797	Clinical course	4733	DRG1	OMIM:620641
HP:0031797	Clinical course	3339	HSPG2	OMIM:255800
HP:0031797	Clinical course	3339	HSPG2	OMIM:224410
HP:0031797	Clinical course	79648	MCPH1	OMIM:251200
HP:0031797	Clinical course	2200	FBN1	OMIM:184900
HP:0031797	Clinical course	81839	VANGL1	OMIM:600145
HP:0031797	Clinical course	2071	ERCC3	OMIM:616390
HP:0031797	Clinical course	85300	ATCAY	OMIM:601238
HP:0031797	Clinical course	404672	GTF2H5	OMIM:616395
HP:0031797	Clinical course	1917	EEF1A2	OMIM:616393
HP:0031797	Clinical course	9742	IFT140	OMIM:266920
HP:0031797	Clinical course	205327	C2orf69	OMIM:619423
HP:0031797	Clinical course	58497	PRUNE1	OMIM:617481
HP:0031797	Clinical course	54101	RIPK4	OMIM:263650
HP:0031797	Clinical course	9427	ECEL1	OMIM:615065
HP:0031797	Clinical course	5888	RAD51	OMIM:617244
HP:0031797	Clinical course	22930	RAB3GAP1	OMIM:619420
HP:0031797	Clinical course	4286	MITF	OMIM:103500
HP:0031797	Clinical course	4286	MITF	OMIM:617306
HP:0031797	Clinical course	4286	MITF	OMIM:193510
HP:0031797	Clinical course	7516	XRCC2	OMIM:617247
HP:0031797	Clinical course	7046	TGFBR1	OMIM:609192
HP:0031797	Clinical course	7286	TUFT1	OMIM:620415
HP:0031797	Clinical course	5908	RAP1B	OMIM:620654
HP:0031797	Clinical course	7227	TRPS1	OMIM:190351
HP:0031797	Clinical course	64132	XYLT2	OMIM:605822
HP:0031797	Clinical course	2074	ERCC6	OMIM:133540
HP:0031797	Clinical course	2074	ERCC6	OMIM:214150
HP:0031797	Clinical course	9361	LONP1	OMIM:600373
HP:0031797	Clinical course	2266	FGG	OMIM:202400
HP:0031797	Clinical course	2243	FGA	OMIM:202400
HP:0031797	Clinical course	2244	FGB	OMIM:202400
HP:0031797	Clinical course	6134	RPL10	OMIM:300998
HP:0031797	Clinical course	8925	HERC1	OMIM:617011
HP:0031797	Clinical course	1281	COL3A1	OMIM:618343
HP:0031797	Clinical course	10785	WDR4	OMIM:618346
HP:0031797	Clinical course	10046	MAMLD1	OMIM:300758
HP:0031797	Clinical course	72	ACTG2	OMIM:619431
HP:0031797	Clinical course	56203	LMOD3	OMIM:616165
HP:0031797	Clinical course	2495	FTH1	OMIM:620669
HP:0031797	Clinical course	79912	PYROXD1	OMIM:617258
HP:0031797	Clinical course	55505	NOP10	OMIM:620425
HP:0031797	Clinical course	1798	DPAGT1	OMIM:608093
HP:0031797	Clinical course	2653	GCSH	OMIM:620423
HP:0031797	Clinical course	90459	ERI1	OMIM:620663
HP:0031797	Clinical course	90459	ERI1	OMIM:620662
HP:0031797	Clinical course	5309	PITX3	OMIM:610623
HP:0031797	Clinical course	4838	NODAL	OMIM:270100
HP:0031797	Clinical course	100033413	SNORD116-1	OMIM:176270
HP:0031797	Clinical course	8924	HERC2	OMIM:176270
HP:0031797	Clinical course	23742	NPAP1	OMIM:176270
HP:0031797	Clinical course	338433	SNORD115-1	OMIM:176270
HP:0031797	Clinical course	54551	MAGEL2	OMIM:176270
HP:0031797	Clinical course	54551	MAGEL2	OMIM:615547
HP:0031797	Clinical course	7681	MKRN3	OMIM:176270
HP:0031797	Clinical course	145624	PWAR1	OMIM:176270
HP:0031797	Clinical course	3653	IPW	OMIM:176270
HP:0031797	Clinical course	791114	PWRN1	OMIM:176270
HP:0031797	Clinical course	56945	MRPS22	OMIM:611719
HP:0031797	Clinical course	2706	GJB2	OMIM:602540
HP:0031797	Clinical course	2706	GJB2	OMIM:149200
HP:0031797	Clinical course	5575	PRKAR1B	OMIM:619680
HP:0031797	Clinical course	10733	PLK4	OMIM:616171
HP:0031797	Clinical course	7707	ZNF148	OMIM:617260
HP:0031797	Clinical course	6299	SALL1	OMIM:107480
HP:0031797	Clinical course	3728	JUP	OMIM:601214
HP:0031797	Clinical course	6567	SLC16A2	OMIM:300523
HP:0031797	Clinical course	1294	COL7A1	OMIM:226600
HP:0031797	Clinical course	1294	COL7A1	OMIM:132000
HP:0031797	Clinical course	1294	COL7A1	OMIM:131750
HP:0031797	Clinical course	23395	LARS2	OMIM:617021
HP:0031797	Clinical course	283989	TSEN54	OMIM:225753
HP:0031797	Clinical course	283989	TSEN54	OMIM:610204
HP:0031797	Clinical course	283989	TSEN54	OMIM:277470
HP:0031797	Clinical course	116461	TSEN15	OMIM:617026
HP:0031797	Clinical course	55262	TRAPPC14	OMIM:618351
HP:0031797	Clinical course	114803	MYSM1	OMIM:618116
HP:0031797	Clinical course	5660	PSAP	OMIM:611721
HP:0031797	Clinical course	4041	LRP5	OMIM:259770
HP:0031797	Clinical course	25885	POLR1A	OMIM:620675
HP:0031797	Clinical course	25885	POLR1A	OMIM:616462
HP:0031797	Clinical course	29954	POMT2	OMIM:236670
HP:0031797	Clinical course	29954	POMT2	OMIM:613150
HP:0031797	Clinical course	29954	POMT2	OMIM:613156
HP:0031797	Clinical course	79147	FKRP	OMIM:236670
HP:0031797	Clinical course	79147	FKRP	OMIM:606612
HP:0031797	Clinical course	79147	FKRP	OMIM:613153
HP:0031797	Clinical course	2218	FKTN	OMIM:236670
HP:0031797	Clinical course	10585	POMT1	OMIM:236670
HP:0031797	Clinical course	9215	LARGE1	OMIM:236670
HP:0031797	Clinical course	9215	LARGE1	OMIM:613154
HP:0031797	Clinical course	56975	FAM20C	OMIM:259775
HP:0031797	Clinical course	57190	SELENON	OMIM:602771
HP:0031797	Clinical course	55250	ELP2	OMIM:617270
HP:0031797	Clinical course	2735	GLI1	OMIM:618123
HP:0031797	Clinical course	8888	MCM3AP	OMIM:618124
HP:0031797	Clinical course	63925	ZNF335	OMIM:615095
HP:0031797	Clinical course	57007	ACKR3	OMIM:619215
HP:0031797	Clinical course	4998	ORC1	OMIM:224690
HP:0031797	Clinical course	1621	DBH	OMIM:223360
HP:0031797	Clinical course	4052	LTBP1	OMIM:619451
HP:0031797	Clinical course	7021	TFAP2B	OMIM:617035
HP:0031797	Clinical course	81788	NUAK2	OMIM:619452
HP:0031797	Clinical course	3643	INSR	OMIM:246200
HP:0031797	Clinical course	27341	RRP7A	OMIM:619453
HP:0031797	Clinical course	8120	AP3B2	OMIM:617276
HP:0031797	Clinical course	2019	EN1	OMIM:619218
HP:0031797	Clinical course	344167	FOXI3	OMIM:620444
HP:0031797	Clinical course	1009	CDH11	OMIM:211380
HP:0031797	Clinical course	1009	CDH11	OMIM:619736
HP:0031797	Clinical course	5077	PAX3	OMIM:148820
HP:0031797	Clinical course	4627	MYH9	OMIM:155100
HP:0031797	Clinical course	7401	CLRN1	OMIM:276902
HP:0031797	Clinical course	7809	BSND	OMIM:602522
HP:0031797	Clinical course	1277	COL1A1	OMIM:130060
HP:0031797	Clinical course	7086	TKT	OMIM:617044
HP:0031797	Clinical course	6390	SDHB	OMIM:619224
HP:0031797	Clinical course	2009	EML1	OMIM:600348
HP:0031797	Clinical course	11342	RNF13	OMIM:618379
HP:0031797	Clinical course	127833	SYT2	OMIM:619461
HP:0031797	Clinical course	84705	GTPBP3	OMIM:616198
HP:0031797	Clinical course	4613	MYCN	OMIM:164280
HP:0031797	Clinical course	4613	MYCN	OMIM:620748
HP:0031797	Clinical course	9971	NR1H4	OMIM:617049
HP:0031797	Clinical course	5332	PLCB4	OMIM:620458
HP:0031797	Clinical course	208	AKT2	OMIM:240900
HP:0031797	Clinical course	9734	HDAC9	OMIM:620457
HP:0031797	Clinical course	6811	STX5	OMIM:620454
HP:0031797	Clinical course	220296	HEPACAM	OMIM:613925
HP:0031797	Clinical course	220296	HEPACAM	OMIM:613926
HP:0031797	Clinical course	50801	KCNK4	OMIM:618381
HP:0031797	Clinical course	26160	IFT172	OMIM:619471
HP:0031797	Clinical course	4158	MC2R	OMIM:202200
HP:0031797	Clinical course	65250	CPLANE1	OMIM:277170
HP:0031797	Clinical course	8991	SELENBP1	OMIM:618148
HP:0031797	Clinical course	54800	KLHL24	OMIM:617294
HP:0031797	Clinical course	3914	LAMB3	OMIM:226650
HP:0031797	Clinical course	3914	LAMB3	OMIM:226700
HP:0031797	Clinical course	10526	IPO8	OMIM:619472
HP:0031797	Clinical course	348180	CTU2	OMIM:618142
HP:0031797	Clinical course	54539	NDUFB11	OMIM:300952
HP:0031797	Clinical course	54539	NDUFB11	OMIM:301021
HP:0031797	Clinical course	54539	NDUFB11	OMIM:309801
HP:0031797	Clinical course	7737	RNF113A	OMIM:300953
HP:0031797	Clinical course	92002	CCNQ	OMIM:300707
HP:0031797	Clinical course	79574	EPS8L3	OMIM:612841
HP:0031797	Clinical course	84196	USP48	OMIM:620227
HP:0031797	Clinical course	6608	SMO	OMIM:241800
HP:0031797	Clinical course	6608	SMO	OMIM:601707
HP:0031797	Clinical course	10413	YAP1	OMIM:120433
HP:0031797	Clinical course	2006	ELN	OMIM:123700
HP:0031797	Clinical course	3248	HPGD	OMIM:259100
HP:0031797	Clinical course	3248	HPGD	OMIM:119900
HP:0031797	Clinical course	6050	RNH1	OMIM:620461
HP:0031797	Clinical course	63895	PIEZO2	OMIM:108145
HP:0031797	Clinical course	63895	PIEZO2	OMIM:248700
HP:0031797	Clinical course	1412	CRYBA2	OMIM:115900
HP:0031797	Clinical course	25839	COG4	OMIM:618150
HP:0031797	Clinical course	4927	NUP88	OMIM:618393
HP:0031797	Clinical course	51360	MBTPS2	OMIM:308205
HP:0031797	Clinical course	3636	INPPL1	OMIM:258480
HP:0031797	Clinical course	9325	TRIP4	OMIM:617066
HP:0031797	Clinical course	9325	TRIP4	OMIM:616866
HP:0031797	Clinical course	6872	TAF1	OMIM:300966
HP:0031797	Clinical course	60558	GUF1	OMIM:617065
HP:0031797	Clinical course	2324	FLT4	OMIM:153100
HP:0031797	Clinical course	158326	FREM1	OMIM:248450
HP:0031797	Clinical course	8318	CDC45	OMIM:617063
HP:0031797	Clinical course	55640	FLVCR2	OMIM:225790
HP:0031797	Clinical course	23233	EXOC6B	OMIM:618395
HP:0031797	Clinical course	9508	ADAMTS3	OMIM:618154
HP:0031797	Clinical course	91875	TTC5	OMIM:619244
HP:0031797	Clinical course	84340	GFM2	OMIM:618397
HP:0031797	Clinical course	4617	MYF5	OMIM:618155
HP:0031797	Clinical course	134353	LSM11	OMIM:619486
HP:0031797	Clinical course	100127206	MINAR2	OMIM:620238
HP:0031797	Clinical course	57038	RARS2	OMIM:611523
HP:0031797	Clinical course	50485	SMARCAL1	OMIM:242900
HP:0031797	Clinical course	7341	SUMO1	OMIM:613705
HP:0031797	Clinical course	9573	GDF3	OMIM:613704
HP:0031797	Clinical course	10551	AGR2	OMIM:620233
HP:0031797	Clinical course	60	ACTB	OMIM:620475
HP:0031797	Clinical course	60	ACTB	OMIM:607371
HP:0031797	Clinical course	60386	SLC25A19	OMIM:607196
HP:0031797	Clinical course	3766	KCNJ10	OMIM:600791
HP:0031797	Clinical course	2299	FOXI1	OMIM:600791
HP:0031797	Clinical course	5172	SLC26A4	OMIM:600791
HP:0031797	Clinical course	23387	SIK3	OMIM:618162
HP:0031797	Clinical course	6748	SSR4	OMIM:300934
HP:0031797	Clinical course	51168	MYO15A	OMIM:600316
HP:0031797	Clinical course	84231	TRAF7	OMIM:618164
HP:0031797	Clinical course	5339	PLEC	OMIM:226670
HP:0031797	Clinical course	5339	PLEC	OMIM:226730
HP:0031797	Clinical course	26276	VPS33B	OMIM:620009
HP:0031797	Clinical course	26276	VPS33B	OMIM:208085
HP:0031797	Clinical course	1908	EDN3	OMIM:613712
HP:0031797	Clinical course	4094	MAF	OMIM:610202
HP:0031797	Clinical course	2668	GDNF	OMIM:613711
HP:0031797	Clinical course	1073	CFL2	OMIM:610687
HP:0031797	Clinical course	3110	MNX1	OMIM:176450
HP:0031797	Clinical course	253827	MSRB3	OMIM:613718
HP:0031797	Clinical course	6599	SMARCC1	OMIM:620241
HP:0031797	Clinical course	51082	POLR1D	OMIM:613717
HP:0031797	Clinical course	10079	ATP9A	OMIM:620242
HP:0031797	Clinical course	5795	PTPRJ	OMIM:620484
HP:0031797	Clinical course	7474	WNT5A	OMIM:180700
HP:0031797	Clinical course	7066	THPO	OMIM:620481
HP:0031797	Clinical course	54658	UGT1A1	OMIM:218800
HP:0031797	Clinical course	2296	FOXC1	OMIM:601631
HP:0031797	Clinical course	116150	NUS1	OMIM:617082
HP:0031797	Clinical course	1893	ECM1	OMIM:247100
HP:0031797	Clinical course	84842	HPDL	OMIM:619026
HP:0031797	Clinical course	79023	NUP37	OMIM:618179
HP:0031797	Clinical course	8516	ITGA8	OMIM:191830
HP:0031797	Clinical course	90121	TSR2	OMIM:300946
HP:0031797	Clinical course	51473	DCDC2	OMIM:610212
HP:0031797	Clinical course	4233	MET	OMIM:620019
HP:0031797	Clinical course	4233	MET	OMIM:607278
HP:0031797	Clinical course	1414	CRYBB1	OMIM:611544
HP:0031797	Clinical course	26123	TCTN3	OMIM:614815
HP:0031797	Clinical course	27445	PCLO	OMIM:608027
HP:0031797	Clinical course	29969	MDFIC	OMIM:620014
HP:0031797	Clinical course	3516	RBPJ	OMIM:614814
HP:0031797	Clinical course	80036	TRPM3	OMIM:620253
HP:0031797	Clinical course	65055	REEP1	OMIM:620011
HP:0031797	Clinical course	60529	ALX4	OMIM:609597
HP:0031797	Clinical course	60529	ALX4	OMIM:613451
HP:0031797	Clinical course	283450	HECTD4	OMIM:620250
HP:0031797	Clinical course	8085	KMT2D	OMIM:147920
HP:0031797	Clinical course	7403	KDM6A	OMIM:147920
HP:0031797	Clinical course	8323	FZD6	OMIM:161050
HP:0031797	Clinical course	5393	EXOSC9	OMIM:618065
HP:0031797	Clinical course	26128	KIFBP	OMIM:609460
HP:0031797	Clinical course	673	BRAF	OMIM:115150
HP:0031797	Clinical course	25821	MTO1	OMIM:614702
HP:0031797	Clinical course	57539	WDR35	OMIM:613610
HP:0031797	Clinical course	283310	OTOGL	OMIM:614944
HP:0031797	Clinical course	3848	KRT1	OMIM:620148
HP:0031797	Clinical course	3848	KRT1	OMIM:146590
HP:0031797	Clinical course	3848	KRT1	OMIM:600962
HP:0031797	Clinical course	340990	OTOG	OMIM:614945
HP:0031797	Clinical course	7138	TNNT1	OMIM:620386
HP:0031797	Clinical course	1411	CRYBA1	OMIM:600881
HP:0031797	Clinical course	64327	LMBR1	OMIM:190605
HP:0031797	Clinical course	57222	ERGIC1	OMIM:208100
HP:0031797	Clinical course	89910	UBE3B	OMIM:244450
HP:0031797	Clinical course	1638	DCT	OMIM:619165
HP:0031797	Clinical course	3664	IRF6	OMIM:119500
HP:0031797	Clinical course	3664	IRF6	OMIM:119300
HP:0031797	Clinical course	6662	SOX9	OMIM:114290
HP:0031797	Clinical course	26153	KIF26A	OMIM:620156
HP:0031797	Clinical course	271	AMPD2	OMIM:615809
HP:0031797	Clinical course	9382	COG1	OMIM:611209
HP:0031797	Clinical course	1763	DNA2	OMIM:615807
HP:0031797	Clinical course	7125	TNNC2	OMIM:620161
HP:0031797	Clinical course	388698	FLG2	OMIM:618084
HP:0031797	Clinical course	9241	NOG	OMIM:186570
HP:0031797	Clinical course	146862	UNC45B	OMIM:619178
HP:0031797	Clinical course	5119	CHMP1A	OMIM:614961
HP:0031797	Clinical course	84876	ORAI1	OMIM:612782
HP:0031797	Clinical course	220074	LRTOMT	OMIM:611451
HP:0031797	Clinical course	50814	NSDHL	OMIM:308050
HP:0031797	Clinical course	6261	RYR1	OMIM:255320
HP:0031797	Clinical course	1889	ECE1	OMIM:613870
HP:0031797	Clinical course	1801	DPH1	OMIM:616901
HP:0031797	Clinical course	93627	TBCK	OMIM:616900
HP:0031797	Clinical course	114034	TOE1	OMIM:614969
HP:0031797	Clinical course	1509	CTSD	OMIM:610127
HP:0031797	Clinical course	80254	CEP63	OMIM:614728
HP:0031797	Clinical course	9570	GOSR2	OMIM:620166
HP:0031797	Clinical course	80326	WNT10A	OMIM:257980
HP:0031797	Clinical course	51057	WDPCP	OMIM:217085
HP:0031797	Clinical course	10555	AGPAT2	OMIM:608594
HP:0031797	Clinical course	5313	PKLR	OMIM:266200
HP:0031797	Clinical course	1690	COCH	OMIM:618094
HP:0031797	Clinical course	9750	RIPOR2	OMIM:607017
HP:0031797	Clinical course	9750	RIPOR2	OMIM:616515
HP:0031797	Clinical course	84823	LMNB2	OMIM:619180
HP:0031797	Clinical course	6885	MAP3K7	OMIM:157800
HP:0031797	Clinical course	55148	UBR7	OMIM:619189
HP:0031797	Clinical course	7170	TPM3	OMIM:255310
HP:0031797	Clinical course	79583	TMEM231	OMIM:614970
HP:0031797	Clinical course	79583	TMEM231	OMIM:615397
HP:0031797	Clinical course	23545	ATP6V0A2	OMIM:278250
HP:0031797	Clinical course	1954	MEGF8	OMIM:614976
HP:0031797	Clinical course	23314	SATB2	OMIM:612313
HP:0031797	Clinical course	79867	TCTN2	OMIM:613885
HP:0031797	Clinical course	79867	TCTN2	OMIM:616654
HP:0031797	Clinical course	55636	CHD7	OMIM:214800
HP:0031797	Clinical course	3070	HELLS	OMIM:616911
HP:0031797	Clinical course	51293	CD320	OMIM:613646
HP:0031797	Clinical course	83879	CDCA7	OMIM:616910
HP:0031797	Clinical course	25942	SIN3A	OMIM:613406
HP:0031797	Clinical course	79053	ALG8	OMIM:608104
HP:0031797	Clinical course	727857	BHLHA9	OMIM:609432
HP:0031797	Clinical course	727857	BHLHA9	OMIM:607539
HP:0031797	Clinical course	27245	AHDC1	OMIM:615829
HP:0031797	Clinical course	6234	RPS28	OMIM:606164
HP:0031797	Clinical course	699	BUB1	OMIM:620183
HP:0031797	Clinical course	9653	HS2ST1	OMIM:619194
HP:0031797	Clinical course	57217	TTC7A	OMIM:243150
HP:0031797	Clinical course	1280	COL2A1	OMIM:151210
HP:0031797	Clinical course	1280	COL2A1	OMIM:156550
HP:0031797	Clinical course	1280	COL2A1	OMIM:271700
HP:0031797	Clinical course	23118	TAB2	OMIM:614980
HP:0031797	Clinical course	56006	SMG9	OMIM:616920
HP:0031797	Clinical course	56006	SMG9	OMIM:619995
HP:0031797	Clinical course	51660	MPC1	OMIM:614741
HP:0031797	Clinical course	3211	HOXB1	OMIM:614744
HP:0031797	Clinical course	25977	NECAP1	OMIM:615833
HP:0031797	Clinical course	84720	PIGO	OMIM:614749
HP:0031797	Clinical course	54499	TMCO1	OMIM:213980
HP:0031797	Clinical course	11128	POLR3A	OMIM:264090
HP:0031797	Clinical course	11128	POLR3A	OMIM:607694
HP:0031797	Clinical course	3675	ITGA3	OMIM:614748
HP:0031797	Clinical course	10907	TXNL4A	OMIM:608572
HP:0031797	Clinical course	2255	FGF10	OMIM:620193
HP:0031797	Clinical course	4036	LRP2	OMIM:222448
HP:0031797	Clinical course	492	ATP2B3	OMIM:302500
HP:0031797	Clinical course	8050	PDHX	OMIM:245349
HP:0031797	Clinical course	64419	MTMR14	OMIM:160150
HP:0031797	Clinical course	1785	DNM2	OMIM:160150
HP:0031797	Clinical course	1785	DNM2	OMIM:615368
HP:0031797	Clinical course	153562	MARVELD2	OMIM:610153
HP:0031797	Clinical course	8481	OFD1	OMIM:311200
HP:0031797	Clinical course	8481	OFD1	OMIM:300804
HP:0031797	Clinical course	8481	OFD1	OMIM:300209
HP:0031797	Clinical course	64135	IFIH1	OMIM:615846
HP:0031797	Clinical course	3708	ITPR1	OMIM:117360
HP:0031797	Clinical course	3708	ITPR1	OMIM:206700
HP:0031797	Clinical course	6331	SCN5A	OMIM:608567
HP:0031797	Clinical course	2103	ESRRB	OMIM:608565
HP:0031797	Clinical course	2535	FZD2	OMIM:164745
HP:0031797	Clinical course	2652	OPN1MW	OMIM:303800
HP:0031797	Clinical course	6949	TCOF1	OMIM:154500
HP:0031797	Clinical course	10661	KLF1	OMIM:613673
HP:0031797	Clinical course	55835	CPAP	OMIM:613676
HP:0031797	Clinical course	55835	CPAP	OMIM:608393
HP:0031797	Clinical course	7048	TGFBR2	OMIM:610168
HP:0031797	Clinical course	2147	F2	OMIM:613679
HP:0031797	Clinical course	1302	COL11A2	OMIM:614524
HP:0031797	Clinical course	1302	COL11A2	OMIM:215150
HP:0031797	Clinical course	3753	KCNE1	OMIM:612347
HP:0031797	Clinical course	10682	EBP	OMIM:302960
HP:0031797	Clinical course	7546	ZIC2	OMIM:609637
HP:0031797	Clinical course	171023	ASXL1	OMIM:605039
HP:0031797	Clinical course	79228	THOC6	OMIM:613680
HP:0031797	Clinical course	9276	COPB2	OMIM:617800
HP:0031797	Clinical course	2033	EP300	OMIM:613684
HP:0031797	Clinical course	2033	EP300	OMIM:180849
HP:0031797	Clinical course	84667	HES7	OMIM:613686
HP:0031797	Clinical course	3679	ITGA7	OMIM:613204
HP:0031797	Clinical course	220136	CFAP53	OMIM:614779
HP:0031797	Clinical course	7407	VARS1	OMIM:617802
HP:0031797	Clinical course	9894	TELO2	OMIM:616954
HP:0031797	Clinical course	4000	LMNA	OMIM:613205
HP:0031797	Clinical course	4000	LMNA	OMIM:619793
HP:0031797	Clinical course	8216	LZTR1	OMIM:605275
HP:0031797	Clinical course	80000	GREB1L	OMIM:617805
HP:0031797	Clinical course	80000	GREB1L	OMIM:619274
HP:0031797	Clinical course	5830	PEX5	OMIM:616716
HP:0031797	Clinical course	23592	LEMD3	OMIM:166700
HP:0031797	Clinical course	5080	PAX6	OMIM:106210
HP:0031797	Clinical course	7490	WT1	OMIM:106210
HP:0031797	Clinical course	7490	WT1	OMIM:608978
HP:0031797	Clinical course	8518	ELP1	OMIM:223900
HP:0031797	Clinical course	2261	FGFR3	OMIM:187600
HP:0031797	Clinical course	2261	FGFR3	OMIM:616482
HP:0031797	Clinical course	2261	FGFR3	OMIM:100800
HP:0031797	Clinical course	91949	COG7	OMIM:608779
HP:0031797	Clinical course	8243	SMC1A	OMIM:301044
HP:0031797	Clinical course	64116	SLC39A8	OMIM:616721
HP:0031797	Clinical course	1305	COL13A1	OMIM:616720
HP:0031797	Clinical course	23394	ADNP	OMIM:615873
HP:0031797	Clinical course	79848	CSPP1	OMIM:615636
HP:0031797	Clinical course	1788	DNMT3A	OMIM:615879
HP:0031797	Clinical course	10586	MAB21L2	OMIM:615877
HP:0031797	Clinical course	8763	CD164	OMIM:616969
HP:0031797	Clinical course	55593	OTUD5	OMIM:301056
HP:0031797	Clinical course	1837	DTNA	OMIM:604169
HP:0031797	Clinical course	4854	NOTCH3	OMIM:130720
HP:0031797	Clinical course	84162	BLTP1	OMIM:617822
HP:0031797	Clinical course	473	RERE	OMIM:616975
HP:0031797	Clinical course	10229	COQ7	OMIM:616733
HP:0031797	Clinical course	1806	DPYD	OMIM:274270
HP:0031797	Clinical course	1278	COL1A2	OMIM:617821
HP:0031797	Clinical course	1278	COL1A2	OMIM:619120
HP:0031797	Clinical course	4893	NRAS	OMIM:613224
HP:0031797	Clinical course	4893	NRAS	OMIM:137550
HP:0031797	Clinical course	83479	DDX59	OMIM:174300
HP:0031797	Clinical course	6334	SCN8A	OMIM:614558
HP:0031797	Clinical course	79644	SRD5A3	OMIM:612379
HP:0031797	Clinical course	79644	SRD5A3	OMIM:612713
HP:0031797	Clinical course	2162	F13A1	OMIM:613225
HP:0031797	Clinical course	3097	HIVEP2	OMIM:616977
HP:0031797	Clinical course	10982	MAPRE2	OMIM:616734
HP:0031797	Clinical course	767	CA8	OMIM:613227
HP:0031797	Clinical course	5048	PAFAH1B1	OMIM:607432
HP:0031797	Clinical course	1959	EGR2	OMIM:605253
HP:0031797	Clinical course	54820	NDE1	OMIM:605013
HP:0031797	Clinical course	54820	NDE1	OMIM:614019
HP:0031797	Clinical course	7547	ZIC3	OMIM:306955
HP:0031797	Clinical course	4810	NHS	OMIM:302350
HP:0031797	Clinical course	10735	STAG2	OMIM:301022
HP:0031797	Clinical course	55906	ZC4H2	OMIM:314580
HP:0031797	Clinical course	54885	TBC1D8B	OMIM:301028
HP:0031797	Clinical course	112802	KRT71	OMIM:615896
HP:0031797	Clinical course	388753	COA6	OMIM:616501
HP:0031797	Clinical course	493753	COA5	OMIM:616500
HP:0031797	Clinical course	2165	F13B	OMIM:613235
HP:0031797	Clinical course	4358	MPV17	OMIM:256810
HP:0031797	Clinical course	545	ATR	OMIM:614564
HP:0031797	Clinical course	80746	TSEN2	OMIM:612389
HP:0031797	Clinical course	284086	NEK8	OMIM:615415
HP:0031797	Clinical course	284086	NEK8	OMIM:620903
HP:0031797	Clinical course	4047	LSS	OMIM:616509
HP:0031797	Clinical course	4047	LSS	OMIM:618275
HP:0031797	Clinical course	4047	LSS	OMIM:618840
HP:0031797	Clinical course	259232	NALCN	OMIM:615419
HP:0031797	Clinical course	259232	NALCN	OMIM:616266
HP:0031797	Clinical course	55764	IFT122	OMIM:218330
HP:0031797	Clinical course	3784	KCNQ1	OMIM:220400
HP:0031797	Clinical course	7050	TGIF1	OMIM:142946
HP:0031797	Clinical course	5422	POLA1	OMIM:301030
HP:0031797	Clinical course	3479	IGF1	OMIM:608747
HP:0031797	Clinical course	25	ABL1	OMIM:617602
HP:0031797	Clinical course	5147	PDE6D	OMIM:615665
HP:0031797	Clinical course	57511	COG6	OMIM:614576
HP:0031797	Clinical course	57511	COG6	OMIM:615328
HP:0031797	Clinical course	2260	FGFR1	OMIM:613001
HP:0031797	Clinical course	2260	FGFR1	OMIM:190440
HP:0031797	Clinical course	128637	TBC1D20	OMIM:615663
HP:0031797	Clinical course	29980	DONSON	OMIM:617604
HP:0031797	Clinical course	29980	DONSON	OMIM:251230
HP:0031797	Clinical course	8195	MKKS	OMIM:605231
HP:0031797	Clinical course	64840	PORCN	OMIM:305600
HP:0031797	Clinical course	9997	SCO2	OMIM:604377
HP:0031797	Clinical course	200879	LIPH	OMIM:604379
HP:0031797	Clinical course	2703	GJA8	OMIM:116200
HP:0031797	Clinical course	26580	BSCL2	OMIM:269700
HP:0031797	Clinical course	8929	PHOX2B	OMIM:209880
HP:0031797	Clinical course	1103	CHAT	OMIM:254210
HP:0031797	Clinical course	1859	DYRK1A	OMIM:614104
HP:0031797	Clinical course	5333	PLCD1	OMIM:151600
HP:0031797	Clinical course	117581	TWIST2	OMIM:209885
HP:0031797	Clinical course	117581	TWIST2	OMIM:200110
HP:0031797	Clinical course	80781	COL18A1	OMIM:267750
HP:0031797	Clinical course	4148	MATN3	OMIM:608728
HP:0031797	Clinical course	286410	ATP11C	OMIM:301015
HP:0031797	Clinical course	3955	LFNG	OMIM:609813
HP:0031797	Clinical course	59344	ALOXE3	OMIM:606545
HP:0031797	Clinical course	59344	ALOXE3	OMIM:242100
HP:0031797	Clinical course	3265	HRAS	OMIM:137550
HP:0031797	Clinical course	1836	SLC26A2	OMIM:222600
HP:0031797	Clinical course	1836	SLC26A2	OMIM:600972
HP:0031797	Clinical course	55617	TASP1	OMIM:618950
HP:0031797	Clinical course	27031	NPHP3	OMIM:208540
HP:0031797	Clinical course	114928	GPRASP2	OMIM:301018
HP:0031797	Clinical course	3098	HK1	OMIM:235700
HP:0031797	Clinical course	491	ATP2B2	OMIM:619804
HP:0031797	Clinical course	80210	ARMC9	OMIM:617622
HP:0031797	Clinical course	2625	GATA3	OMIM:146255
HP:0031797	Clinical course	526	ATP6V1B2	OMIM:124480
HP:0031797	Clinical course	8292	COLQ	OMIM:603034
HP:0031797	Clinical course	617	BCS1L	OMIM:124000
HP:0031797	Clinical course	925	CD8A	OMIM:608957
HP:0031797	Clinical course	259266	ASPM	OMIM:608716
HP:0031797	Clinical course	153241	CEP120	OMIM:616300
HP:0031797	Clinical course	23247	KATNIP	OMIM:616784
HP:0031797	Clinical course	2737	GLI3	OMIM:174700
HP:0031797	Clinical course	2737	GLI3	OMIM:146510
HP:0031797	Clinical course	2737	GLI3	OMIM:174200
HP:0031797	Clinical course	2737	GLI3	OMIM:175700
HP:0031797	Clinical course	9786	KIAA0586	OMIM:616546
HP:0031797	Clinical course	4038	LRP4	OMIM:616304
HP:0031797	Clinical course	4038	LRP4	OMIM:212780
HP:0031797	Clinical course	10274	STAG1	OMIM:617635
HP:0031797	Clinical course	387	RHOA	OMIM:618727
HP:0031797	Clinical course	3691	ITGB4	OMIM:619816
HP:0031797	Clinical course	3691	ITGB4	OMIM:226730
HP:0031797	Clinical course	3655	ITGA6	OMIM:619817
HP:0031797	Clinical course	8777	MPDZ	OMIM:615219
HP:0031797	Clinical course	10383	TUBB4B	OMIM:617879
HP:0031797	Clinical course	81570	CLPB	OMIM:619813
HP:0031797	Clinical course	81570	CLPB	OMIM:616271
HP:0031797	Clinical course	9939	RBM8A	OMIM:274000
HP:0031797	Clinical course	5290	PIK3CA	OMIM:606773
HP:0031797	Clinical course	5290	PIK3CA	OMIM:612918
HP:0031797	Clinical course	5290	PIK3CA	OMIM:155500
HP:0031797	Clinical course	6496	SIX3	OMIM:157170
HP:0031797	Clinical course	6910	TBX5	OMIM:142900
HP:0031797	Clinical course	1832	DSP	OMIM:605676
HP:0031797	Clinical course	3908	LAMA2	OMIM:607855
HP:0031797	Clinical course	23288	IQCE	OMIM:617642
HP:0031797	Clinical course	1804	DPP6	OMIM:616311
HP:0031797	Clinical course	5699	PSMB10	OMIM:620807
HP:0031797	Clinical course	389207	GRXCR1	OMIM:613285
HP:0031797	Clinical course	57728	WDR19	OMIM:614378
HP:0031797	Clinical course	57728	WDR19	OMIM:614376
HP:0031797	Clinical course	51763	INPP5K	OMIM:617404
HP:0031797	Clinical course	7700	ZNF141	OMIM:615226
HP:0031797	Clinical course	1140	CHRNB1	OMIM:616314
HP:0031797	Clinical course	1140	CHRNB1	OMIM:616313
HP:0031797	Clinical course	523	ATP6V1A	OMIM:617403
HP:0031797	Clinical course	529	ATP6V1E1	OMIM:617402
HP:0031797	Clinical course	6155	RPL27	OMIM:617408
HP:0031797	Clinical course	498	ATP5F1A	OMIM:615228
HP:0031797	Clinical course	498	ATP5F1A	OMIM:616045
HP:0031797	Clinical course	255758	DYNLT2B	OMIM:617405
HP:0031797	Clinical course	9381	OTOF	OMIM:601071
HP:0031797	Clinical course	64699	TMPRSS3	OMIM:601072
HP:0031797	Clinical course	352909	DNAAF3	OMIM:606763
HP:0031797	Clinical course	246329	STAC3	OMIM:255995
HP:0031797	Clinical course	23141	ANKLE2	OMIM:616681
HP:0031797	Clinical course	10617	STAMBP	OMIM:614261
HP:0031797	Clinical course	29925	GMPPB	OMIM:615350
HP:0031797	Clinical course	29925	GMPPB	OMIM:615351
HP:0031797	Clinical course	29925	GMPPB	OMIM:615352
HP:0031797	Clinical course	9853	RUSC2	OMIM:617773
HP:0031797	Clinical course	91754	NEK9	OMIM:614262
HP:0031797	Clinical course	2132	EXT2	OMIM:616682
HP:0031797	Clinical course	3783	KCNN4	OMIM:616689
HP:0031797	Clinical course	3145	HMBS	OMIM:620704
HP:0031797	Clinical course	3145	HMBS	OMIM:620711
HP:0031797	Clinical course	8425	LTBP4	OMIM:613177
HP:0031797	Clinical course	220	ALDH1A3	OMIM:615113
HP:0031797	Clinical course	10054	UBA2	OMIM:619959
HP:0031797	Clinical course	2972	BRF1	OMIM:616202
HP:0031797	Clinical course	8710	SERPINB7	OMIM:615598
HP:0031797	Clinical course	6938	TCF12	OMIM:619718
HP:0031797	Clinical course	9231	DLG5	OMIM:620703
HP:0031797	Clinical course	81857	MED25	OMIM:616449
HP:0031797	Clinical course	3008	H1-4	OMIM:617537
HP:0031797	Clinical course	755	CFAP410	OMIM:602271
HP:0031797	Clinical course	10060	ABCC9	OMIM:619719
HP:0031797	Clinical course	3891	KRT85	OMIM:602032
HP:0031797	Clinical course	64220	STRA6	OMIM:601186
HP:0031797	Clinical course	6720	SREBF1	OMIM:158310
HP:0031797	Clinical course	7849	PAX8	OMIM:218700
HP:0031797	Clinical course	267010	RNU12	OMIM:603116
HP:0031797	Clinical course	10300	KATNB1	OMIM:616212
HP:0031797	Clinical course	6536	SLC6A9	OMIM:617301
HP:0031797	Clinical course	55159	RFWD3	OMIM:617784
HP:0031797	Clinical course	1630	DCC	OMIM:617542
HP:0031797	Clinical course	2050	EPHB4	OMIM:617300
HP:0031797	Clinical course	2201	FBN2	OMIM:121050
HP:0031797	Clinical course	84570	COL25A1	OMIM:616219
HP:0031797	Clinical course	4149	MAX	OMIM:620712
HP:0031797	Clinical course	10381	TUBB3	OMIM:614039
HP:0031797	Clinical course	28960	DCPS	OMIM:616459
HP:0031797	Clinical course	54332	GDAP1	OMIM:607706
HP:0031797	Clinical course	220202	ATOH7	OMIM:221900
HP:0031797	Clinical course	2626	GATA4	OMIM:607941
HP:0031797	Clinical course	2626	GATA4	OMIM:614429
HP:0031797	Clinical course	2626	GATA4	OMIM:614430
HP:0031797	Clinical course	2626	GATA4	OMIM:615542
HP:0031797	Clinical course	54	ACP5	OMIM:607944
HP:0031797	Clinical course	9289	ADGRG1	OMIM:606854
HP:0031797	Clinical course	55870	ASH1L	OMIM:617796
HP:0031797	Clinical course	9469	CHST3	OMIM:143095
HP:0031797	Clinical course	816	CAMK2B	OMIM:617799
HP:0031797	Clinical course	7528	YY1	OMIM:617557
HP:0031797	Clinical course	1292	COL6A2	OMIM:620727
HP:0031797	Clinical course	56172	ANKH	OMIM:123000
HP:0031797	Clinical course	9581	PREPL	OMIM:616224
HP:0031797	Clinical course	5426	POLE	OMIM:615139
HP:0031797	Clinical course	90993	CREB3L1	OMIM:616229
HP:0031797	Clinical course	170825	GSX2	OMIM:618646
HP:0031797	Clinical course	21	ABCA3	OMIM:610921
HP:0031797	Clinical course	8726	EED	OMIM:617561
HP:0031797	Clinical course	203286	ANKS6	OMIM:615382
HP:0031797	Clinical course	54968	TMEM70	OMIM:614052
HP:0031797	Clinical course	497661	C18orf32	OMIM:619985
HP:0031797	Clinical course	1301	COL11A1	OMIM:228520
HP:0031797	Clinical course	1301	COL11A1	OMIM:604841
HP:0031797	Clinical course	55714	TENM3	OMIM:615145
HP:0031797	Clinical course	84314	TMEM107	OMIM:617563
HP:0031797	Clinical course	269	AMHR2	OMIM:261550
HP:0031797	Clinical course	268	AMH	OMIM:261550
HP:0031797	Clinical course	1293	COL6A3	OMIM:620728
HP:0031797	Clinical course	56992	KIF15	OMIM:619981
HP:0031797	Clinical course	55012	PPP2R3C	OMIM:618419
HP:0031797	Clinical course	55521	TRIM36	OMIM:206500
HP:0031797	Clinical course	4632	MYL1	OMIM:618414
HP:0031797	Clinical course	200734	SPRED2	OMIM:619745
HP:0031797	Clinical course	7855	FZD5	OMIM:620731
HP:0031797	Clinical course	23268	DNMBP	OMIM:618415
HP:0031797	Clinical course	8642	DCHS1	OMIM:601390
HP:0031797	Clinical course	4647	MYO7A	OMIM:600060
HP:0031797	Clinical course	8241	RBM10	OMIM:311900
HP:0031797	Clinical course	6820	SULT2B1	OMIM:617571
HP:0031797	Clinical course	23312	DMXL2	OMIM:618663
HP:0031797	Clinical course	83861	RSPH3	OMIM:616481
HP:0031797	Clinical course	23262	PPIP5K2	OMIM:618422
HP:0031797	Clinical course	10717	AP4B1	OMIM:614066
HP:0031797	Clinical course	1349	COX7B	OMIM:309801
HP:0031797	Clinical course	3052	HCCS	OMIM:309801
HP:0031797	Clinical course	84879	MFSD2A	OMIM:616486
HP:0031797	Clinical course	51604	PIGT	OMIM:615398
HP:0031797	Clinical course	7862	BRPF1	OMIM:617333
HP:0031797	Clinical course	121214	SDR9C7	OMIM:617574
HP:0031797	Clinical course	54914	FOCAD	OMIM:619991
HP:0031797	Clinical course	55699	IARS2	OMIM:616007
HP:0031797	Clinical course	8363	H4C11	OMIM:619759
HP:0031797	Clinical course	1001	CDH3	OMIM:225280
HP:0031797	Clinical course	1001	CDH3	OMIM:601553
HP:0031797	Clinical course	9453	GGPS1	OMIM:619518
HP:0031797	Clinical course	11012	KLK11	OMIM:620507
HP:0031797	Clinical course	3481	IGF2	OMIM:616489
HP:0031797	Clinical course	6023	RMRP	OMIM:250250
HP:0031797	Clinical course	6023	RMRP	OMIM:607095
HP:0031797	Clinical course	9681	DEPDC5	OMIM:620504
HP:0031797	Clinical course	57282	SLC4A10	OMIM:620746
HP:0031797	Clinical course	9841	ZBTB24	OMIM:614069
HP:0031797	Clinical course	8364	H4C3	OMIM:619758
HP:0031797	Clinical course	145258	GSC	OMIM:602471
HP:0031797	Clinical course	2248	FGF3	OMIM:610706
HP:0031797	Clinical course	26137	ZBTB20	OMIM:259050
HP:0031797	Clinical course	8314	BAP1	OMIM:619762
HP:0031797	Clinical course	388552	BLOC1S3	OMIM:614077
HP:0031797	Clinical course	54928	BPNT2	OMIM:614078
HP:0031797	Clinical course	51098	IFT52	OMIM:617102
HP:0031797	Clinical course	79803	HPS6	OMIM:614075
HP:0031797	Clinical course	53335	BCL11A	OMIM:617101
HP:0031797	Clinical course	9158	FIBP	OMIM:617107
HP:0031797	Clinical course	773	CACNA1A	OMIM:617106
HP:0031797	Clinical course	10020	GNE	OMIM:620757
HP:0031797	Clinical course	7140	TNNT3	OMIM:618435
HP:0031797	Clinical course	4763	NF1	OMIM:193520
HP:0031797	Clinical course	2542	SLC37A4	OMIM:619525
HP:0031797	Clinical course	6117	RPA1	OMIM:619767
HP:0031797	Clinical course	57466	SCAF4	OMIM:620511
HP:0031797	Clinical course	51341	ZBTB7A	OMIM:619769
HP:0031797	Clinical course	2316	FLNA	OMIM:304120
HP:0031797	Clinical course	57724	EPG5	OMIM:242840
HP:0031797	Clinical course	147409	DSG4	OMIM:607903
HP:0031797	Clinical course	23556	PIGN	OMIM:614080
HP:0031797	Clinical course	4621	MYH3	OMIM:178110
HP:0031797	Clinical course	4621	MYH3	OMIM:193700
HP:0031797	Clinical course	51651	PTRH2	OMIM:616263
HP:0031797	Clinical course	55120	FANCL	OMIM:614083
HP:0031797	Clinical course	79989	IFT56	OMIM:619534
HP:0031797	Clinical course	339855	KY	OMIM:617114
HP:0031797	Clinical course	57479	PRR12	OMIM:619539
HP:0031797	Clinical course	5818	NECTIN1	OMIM:225060
HP:0031797	Clinical course	4851	NOTCH1	OMIM:616028
HP:0031797	Clinical course	7994	KAT6A	OMIM:616268
HP:0031797	Clinical course	85459	CEP295	OMIM:620767
HP:0031797	Clinical course	23189	KANK1	OMIM:612900
HP:0031797	Clinical course	9896	FIG4	OMIM:216340
HP:0031797	Clinical course	9896	FIG4	OMIM:612691
HP:0031797	Clinical course	10195	ALG3	OMIM:601110
HP:0031797	Clinical course	3730	ANOS1	OMIM:308700
HP:0031797	Clinical course	148789	B3GALNT2	OMIM:615181
HP:0031797	Clinical course	1749	DLX5	OMIM:220600
HP:0031797	Clinical course	3845	KRAS	OMIM:600268
HP:0031797	Clinical course	3845	KRAS	OMIM:609942
HP:0031797	Clinical course	54903	MKS1	OMIM:617121
HP:0031797	Clinical course	3909	LAMA3	OMIM:619784
HP:0031797	Clinical course	3909	LAMA3	OMIM:619783
HP:0031797	Clinical course	3909	LAMA3	OMIM:226700
HP:0031797	Clinical course	57505	AARS2	OMIM:614096
HP:0031797	Clinical course	3918	LAMC2	OMIM:619785
HP:0031797	Clinical course	3918	LAMC2	OMIM:619786
HP:0031797	Clinical course	3918	LAMC2	OMIM:226700
HP:0031797	Clinical course	51362	CDC40	OMIM:619302
HP:0031797	Clinical course	8621	CDK13	OMIM:617360
HP:0031797	Clinical course	1308	COL17A1	OMIM:619787
HP:0031797	Clinical course	1419	CRYGB	OMIM:615188
HP:0031797	Clinical course	1892	ECHS1	OMIM:616277
HP:0031797	Clinical course	51117	COQ4	OMIM:616276
HP:0031797	Clinical course	3763	KCNJ6	OMIM:614098
HP:0031797	Clinical course	5587	PRKD1	OMIM:617364
HP:0031797	Clinical course	93587	TRMT10A	OMIM:616033
HP:0031797	Clinical course	9533	POLR1C	OMIM:248390
HP:0031797	Clinical course	120766137	HRURF	OMIM:146550
HP:0031797	Clinical course	29968	PSAT1	OMIM:616038
HP:0031797	Clinical course	221078	NSUN6	OMIM:620779
HP:0031797	Clinical course	9851	KIAA0753	OMIM:617127
HP:0031797	Clinical course	6709	SPTAN1	OMIM:620538
HP:0031797	Clinical course	6709	SPTAN1	OMIM:620540
HP:0031797	Clinical course	115948	ODAD3	OMIM:616037
HP:0031797	Clinical course	11338	U2AF2	OMIM:620535
HP:0031797	Clinical course	55770	EXOC2	OMIM:619306
HP:0031797	Clinical course	27145	FILIP1	OMIM:620775
HP:0031797	Clinical course	7080	NKX2-1	OMIM:610978
HP:0031797	Clinical course	8504	PEX3	OMIM:617370
HP:0031797	Clinical course	5898	RALA	OMIM:619311
HP:0031797	Clinical course	79876	UBA5	OMIM:617132
HP:0031797	Clinical course	367	AR	OMIM:300633
HP:0031797	Clinical course	6909	TBX2	OMIM:618223
HP:0031797	Clinical course	51422	PRKAG2	OMIM:261740
HP:0031797	Clinical course	3852	KRT5	OMIM:619555
HP:0031797	Clinical course	3852	KRT5	OMIM:619588
HP:0031797	Clinical course	3852	KRT5	OMIM:619599
HP:0031797	Clinical course	3852	KRT5	OMIM:619594
HP:0031797	Clinical course	3852	KRT5	OMIM:131760
HP:0031797	Clinical course	3852	KRT5	OMIM:131960
HP:0031797	Clinical course	6477	SIAH1	OMIM:619314
HP:0031797	Clinical course	54892	NCAPG2	OMIM:618460
HP:0031797	Clinical course	112	ADCY6	OMIM:616287
HP:0031797	Clinical course	85476	GFM1	OMIM:609060
HP:0031797	Clinical course	6091	ROBO1	OMIM:620305
HP:0031797	Clinical course	2355	FOSL2	OMIM:620789
HP:0031797	Clinical course	170689	ADAMTS15	OMIM:620545
HP:0031797	Clinical course	6650	CAPN15	OMIM:619318
HP:0031797	Clinical course	4076	CAPRIN1	OMIM:620782
HP:0031797	Clinical course	11267	SNF8	OMIM:620783
HP:0031797	Clinical course	2202	EFEMP1	OMIM:620780
HP:0031797	Clinical course	23384	SPECC1L	OMIM:600251
HP:0031797	Clinical course	23384	SPECC1L	OMIM:145420
HP:0031797	Clinical course	170302	ARX	OMIM:308350
HP:0031797	Clinical course	60482	SLC5A7	OMIM:617143
HP:0031797	Clinical course	1436	CSF1R	OMIM:618476
HP:0031797	Clinical course	54765	TRIM44	OMIM:617142
HP:0031797	Clinical course	26610	ELP4	OMIM:617141
HP:0031797	Clinical course	55215	FANCI	OMIM:609053
HP:0031797	Clinical course	7453	WARS1	OMIM:620317
HP:0031797	Clinical course	29078	NDUFAF4	OMIM:618237
HP:0031797	Clinical course	4081	MAB21L1	OMIM:618479
HP:0031797	Clinical course	8312	AXIN1	OMIM:620558
HP:0031797	Clinical course	2068	ERCC2	OMIM:610756
HP:0031797	Clinical course	165829	GPR156	OMIM:620551
HP:0031797	Clinical course	10073	SNUPN	OMIM:620793
HP:0031797	Clinical course	7846	TUBA1A	OMIM:611603
HP:0031797	Clinical course	93035	PKHD1L1	OMIM:620794
HP:0031797	Clinical course	2067	ERCC1	OMIM:610758
HP:0031797	Clinical course	9179	AP4M1	OMIM:612936
HP:0031797	Clinical course	79068	FTO	OMIM:612938
HP:0031797	Clinical course	8626	TP63	OMIM:106260
HP:0031797	Clinical course	8626	TP63	OMIM:604292
HP:0031797	Clinical course	124842	TMEM132E	OMIM:618481
HP:0031797	Clinical course	25929	GEMIN5	OMIM:619333
HP:0031797	Clinical course	10940	POP1	OMIM:617396
HP:0031797	Clinical course	2530	FUT8	OMIM:618005
HP:0031797	Clinical course	1956	EGFR	OMIM:616069
HP:0031797	Clinical course	55572	FOXRED1	OMIM:618241
HP:0031797	Clinical course	54496	PRMT7	OMIM:617157
HP:0031797	Clinical course	165	AEBP1	OMIM:618000
HP:0031797	Clinical course	23414	ZFPM2	OMIM:616067
HP:0031797	Clinical course	8260	NAA10	OMIM:300855
HP:0031797	Clinical course	182	JAG1	OMIM:619574
HP:0031797	Clinical course	182	JAG1	OMIM:617992
HP:0031797	Clinical course	7169	TPM2	OMIM:609285
HP:0031797	Clinical course	23229	ARHGEF9	OMIM:300607
HP:0031797	Clinical course	57096	RPGRIP1	OMIM:608194
HP:0031797	Clinical course	57096	RPGRIP1	OMIM:613826
HP:0031797	Clinical course	23476	BRD4	OMIM:620568
HP:0031797	Clinical course	400569	MED11	OMIM:620327
HP:0031797	Clinical course	1147	CHUK	OMIM:619339
HP:0031797	Clinical course	92344	GORAB	OMIM:231070
HP:0031797	Clinical course	6491	STIL	OMIM:612703
HP:0031797	Clinical course	22845	DOLK	OMIM:610768
HP:0031797	Clinical course	8604	SLC25A12	OMIM:612949
HP:0031797	Clinical course	6768	ST14	OMIM:602400
HP:0031797	Clinical course	9509	ADAMTS2	OMIM:225410
HP:0031797	Clinical course	10524	KAT5	OMIM:619103
HP:0031797	Clinical course	372	ARCN1	OMIM:617164
HP:0031797	Clinical course	285600	KIAA0825	OMIM:618498
HP:0031797	Clinical course	3977	LIFR	OMIM:601559
HP:0031797	Clinical course	80173	IFT74	OMIM:619582
HP:0031797	Clinical course	5277	PIGA	OMIM:300868
HP:0031797	Clinical course	1822	ATN1	OMIM:618494
HP:0031797	Clinical course	4700	NDUFA6	OMIM:618253
HP:0031797	Clinical course	84896	ATAD1	OMIM:618011
HP:0031797	Clinical course	115399	LRRC56	OMIM:618254
HP:0031797	Clinical course	5000	ORC4	OMIM:613800
HP:0031797	Clinical course	84668	HYCC1	OMIM:610532
HP:0031797	Clinical course	3930	LBR	OMIM:618019
HP:0031797	Clinical course	25939	SAMHD1	OMIM:612952
HP:0031797	Clinical course	2683	B4GALT1	OMIM:607091
HP:0031797	Clinical course	4990	SIX6	OMIM:206900
HP:0031797	Clinical course	4990	SIX6	OMIM:212550
HP:0031797	Clinical course	6657	SOX2	OMIM:206900
HP:0031797	Clinical course	81620	CDT1	OMIM:613804
HP:0031797	Clinical course	412	STS	OMIM:308100
HP:0031797	Clinical course	23594	ORC6	OMIM:613803
HP:0031797	Clinical course	990	CDC6	OMIM:613805
HP:0031797	Clinical course	339829	CCDC39	OMIM:613807
HP:0031797	Clinical course	1021	CDK6	OMIM:616080
HP:0031797	Clinical course	5281	PIGF	OMIM:619356
HP:0031797	Clinical course	29895	MYL11	OMIM:619110
HP:0031797	Clinical course	340419	RSPO2	OMIM:618021
HP:0031797	Clinical course	5530	PPP3CA	OMIM:618265
HP:0031797	Clinical course	5530	PPP3CA	OMIM:617711
HP:0031797	Clinical course	5702	PSMC3	OMIM:619354
HP:0031797	Clinical course	1387	CREBBP	OMIM:180849
HP:0031797	Clinical course	25861	WHRN	OMIM:607084
HP:0031797	Clinical course	25861	WHRN	OMIM:611383
HP:0031797	Clinical course	79005	SCNM1	OMIM:620107
HP:0031797	Clinical course	50846	DHH	OMIM:607080
HP:0031797	Clinical course	10283	CWC27	OMIM:250410
HP:0031797	Clinical course	7168	TPM1	OMIM:611878
HP:0031797	Clinical course	51684	SUFU	OMIM:620343
HP:0031797	Clinical course	51684	SUFU	OMIM:617757
HP:0031797	Clinical course	8204	NRIP1	OMIM:618270
HP:0031797	Clinical course	23405	DICER1	OMIM:618272
HP:0031797	Clinical course	113189	CHST14	OMIM:601776
HP:0031797	Clinical course	2077	ERF	OMIM:617180
HP:0031797	Clinical course	90522	YIF1B	OMIM:619125
HP:0031797	Clinical course	291	SLC25A4	OMIM:617184
HP:0031797	Clinical course	55755	CDK5RAP2	OMIM:604804
HP:0031797	Clinical course	6472	SHMT2	OMIM:619121
HP:0031797	Clinical course	10220	GDF11	OMIM:619122
HP:0031797	Clinical course	90416	CCDC32	OMIM:619123
HP:0031797	Clinical course	23287	AGTPBP1	OMIM:618276
HP:0031797	Clinical course	10161	LPAR6	OMIM:278150
HP:0031797	Clinical course	64093	SMOC1	OMIM:206920
HP:0031797	Clinical course	22995	CEP152	OMIM:613823
HP:0031797	Clinical course	4604	MYBPC1	OMIM:614915
HP:0031797	Clinical course	60681	FKBP10	OMIM:259450
HP:0031797	Clinical course	6329	SCN4A	OMIM:620351
HP:0031797	Clinical course	6329	SCN4A	OMIM:620369
HP:0031797	Clinical course	9759	HDAC4	OMIM:600430
HP:0031797	Clinical course	55252	ASXL2	OMIM:617190
HP:0031797	Clinical course	4140	MARK3	OMIM:618283
HP:0031797	Clinical course	342035	GLDN	OMIM:617194
HP:0031797	Clinical course	6904	TBCD	OMIM:617193
HP:0031797	Clinical course	57020	VPS35L	OMIM:619135
HP:0031797	Clinical course	2176	FANCC	OMIM:227645
HP:0031797	Clinical course	7390	UROS	OMIM:263700
HP:0031797	Clinical course	51371	POMP	OMIM:618048
HP:0031797	Clinical course	3739	KCNA4	OMIM:618284
HP:0031797	Clinical course	1984	EIF5A	OMIM:619376
HP:0031797	Clinical course	2733	GLE1	OMIM:611890
HP:0031797	Clinical course	210	ALAD	OMIM:612740
HP:0031797	Clinical course	55005	RMND1	OMIM:614922
HP:0031797	Clinical course	5479	PPIB	OMIM:259440
HP:0031797	Clinical course	59	ACTA2	OMIM:613834
HP:0031797	Clinical course	5076	PAX2	OMIM:120330
HP:0031797	Clinical course	224	ALDH3A2	OMIM:270200
HP:0031797	Clinical course	23299	BICD2	OMIM:618291
HP:0031797	Clinical course	11011	TLK2	OMIM:618050
HP:0031797	Clinical course	57538	ALPK3	OMIM:618052
HP:0031797	Clinical course	3735	KARS1	OMIM:619147
HP:0031797	Clinical course	5566	PRKACA	OMIM:619142
HP:0031797	Clinical course	8665	EIF3F	OMIM:618295
HP:0031797	Clinical course	5567	PRKACB	OMIM:619143
HP:0031797	Clinical course	146059	CDAN1	OMIM:224120
HP:0031797	Clinical course	132001	TAMM41	OMIM:620139
HP:0031797	Clinical course	8823	FGF16	OMIM:309630
HP:0031797	Clinical course	7287	TULP1	OMIM:613843
HP:0031797	Clinical course	3229	HOXC13	OMIM:614931
HP:0031797	Clinical course	8517	IKBKG	OMIM:308300
HP:0031797	Clinical course	3480	IGF1R	OMIM:270450
HP:0031797	Clinical course	3476	IGBP1	OMIM:300472
HP:0031797	Clinical course	11113	CIT	OMIM:617090
HP:0031797	Clinical course	4359	MPZ	OMIM:618184
HP:0031797	Clinical course	84189	SLITRK6	OMIM:221200
HP:0031797	Clinical course	10128	LRPPRC	OMIM:220111
HP:0031797	Clinical course	10134	BCAP31	OMIM:300475
HP:0031797	Clinical course	158	ADSL	OMIM:103050
HP:0031797	Clinical course	10262	SF3B4	OMIM:154400
HP:0031797	Clinical course	8506	CNTNAP1	OMIM:618186
HP:0031797	Clinical course	55503	TRPV6	OMIM:618188
HP:0031797	Clinical course	83700	JAM3	OMIM:613730
HP:0031797	Clinical course	4091	SMAD6	OMIM:614823
HP:0031797	Clinical course	55624	POMGNT1	OMIM:253280
HP:0031797	Clinical course	55624	POMGNT1	OMIM:613151
HP:0031797	Clinical course	10992	SF3B2	OMIM:164210
HP:0031797	Clinical course	3048	HBG2	OMIM:613977
HP:0031797	Clinical course	58	ACTA1	OMIM:620265
HP:0031797	Clinical course	58	ACTA1	OMIM:620278
HP:0031797	Clinical course	8496	PPFIBP1	OMIM:620024
HP:0031797	Clinical course	4867	NPHP1	OMIM:609583
HP:0031797	Clinical course	80222	TARS2	OMIM:615918
HP:0031797	Clinical course	6840	SVIL	OMIM:619040
HP:0031797	Clinical course	3239	HOXD13	OMIM:186000
HP:0031797	Clinical course	4281	MID1	OMIM:300000
HP:0031797	Clinical course	8443	GNPAT	OMIM:222765
HP:0031797	Clinical course	162	AP1B1	OMIM:242150
HP:0031797	Clinical course	6335	SCN9A	OMIM:243000
HP:0031797	Clinical course	4649	MYO9A	OMIM:618198
HP:0031797	Clinical course	23322	RPGRIP1L	OMIM:611561
HP:0031797	Clinical course	84892	POMGNT2	OMIM:614830
HP:0031797	Clinical course	4882	NPR2	OMIM:615923
HP:0031797	Clinical course	23431	AP4E1	OMIM:613744
HP:0031797	Clinical course	4868	NPHS1	OMIM:256300
HP:0031797	Clinical course	5298	PI4KB	OMIM:620281
HP:0031797	Clinical course	7298	TYMS	OMIM:620040
HP:0031797	Clinical course	274	BIN1	OMIM:255200
HP:0031797	Clinical course	93	ACVR2B	OMIM:613751
HP:0031797	Clinical course	10015	PDCD6IP	OMIM:620047
HP:0031797	Clinical course	894	CCND2	OMIM:615938
HP:0031797	Clinical course	7841	MOGS	OMIM:606056
HP:0031797	Clinical course	7840	ALMS1	OMIM:203800
HP:0031797	Clinical course	55107	ANO1	OMIM:620045
HP:0031797	Clinical course	8546	AP3B1	OMIM:608233
HP:0031797	Clinical course	2317	FLNB	OMIM:108720
HP:0031797	Clinical course	474	ATOH1	OMIM:620284
HP:0031797	Clinical course	22	ABCB7	OMIM:301310
HP:0031797	Clinical course	1339	COX6A2	OMIM:619062
HP:0031797	Clinical course	1717	DHCR7	OMIM:270400
HP:0031797	Clinical course	9377	COX5A	OMIM:619064
HP:0031797	Clinical course	860	RUNX2	OMIM:119600
HP:0031797	Clinical course	4212	MEIS2	OMIM:600987
HP:0031797	Clinical course	4697	NDUFA4	OMIM:619065
HP:0031797	Clinical course	5167	ENPP1	OMIM:208000
HP:0031797	Clinical course	5167	ENPP1	OMIM:615522
HP:0031797	Clinical course	51199	NIN	OMIM:614851
HP:0031797	Clinical course	1410	CRYAB	OMIM:613763
HP:0031797	Clinical course	6663	SOX10	OMIM:611584
HP:0031797	Clinical course	5144	PDE4D	OMIM:614613
HP:0031797	Clinical course	161497	STRC	OMIM:611102
HP:0031797	Clinical course	117155	CATSPER2	OMIM:611102
HP:0031797	Clinical course	649	BMP1	OMIM:614856
HP:0031797	Clinical course	2301	FOXE3	OMIM:610256
HP:0031797	Clinical course	51021	MRPS16	OMIM:610498
HP:0031797	Clinical course	57465	TBC1D24	OMIM:614617
HP:0031797	Clinical course	57465	TBC1D24	OMIM:220500
HP:0031797	Clinical course	26005	C2CD3	OMIM:615948
HP:0031797	Clinical course	1906	EDN1	OMIM:615706
HP:0031797	Clinical course	5193	PEX12	OMIM:614859
HP:0031797	Clinical course	5193	PEX12	OMIM:266510
HP:0031797	Clinical course	374393	FAM111B	OMIM:615704
HP:0031797	Clinical course	5826	ABCD4	OMIM:614857
HP:0031797	Clinical course	79443	FYCO1	OMIM:610019
HP:0031797	Clinical course	6911	TBX6	OMIM:122600
HP:0031797	Clinical course	1174	AP1S1	OMIM:609313
HP:0031797	Clinical course	374654	KIF7	OMIM:607131
HP:0031797	Clinical course	2697	GJA1	OMIM:257850
HP:0031797	Clinical course	2697	GJA1	OMIM:104100
HP:0031797	Clinical course	2743	GLRB	OMIM:614619
HP:0031797	Clinical course	23129	PLXND1	OMIM:620294
HP:0031797	Clinical course	26227	PHGDH	OMIM:256520
HP:0031797	Clinical course	23265	EXOC7	OMIM:619072
HP:0031797	Clinical course	4204	MECP2	OMIM:300673
HP:0031797	Clinical course	117531	TMC1	OMIM:600974
HP:0031797	Clinical course	259236	TMIE	OMIM:600971
HP:0031797	Clinical course	5091	PC	OMIM:266150
HP:0031797	Clinical course	222546	RFX6	OMIM:615710
HP:0031797	Clinical course	54084	TSPEAR	OMIM:614861
HP:0031797	Clinical course	222662	LHFPL5	OMIM:610265
HP:0031797	Clinical course	5828	PEX2	OMIM:614866
HP:0031797	Clinical course	1282	COL4A1	OMIM:175780
HP:0031797	Clinical course	171019	ADAMTS19	OMIM:620067
HP:0031797	Clinical course	10518	CIB2	OMIM:614869
HP:0031797	Clinical course	4952	OCRL	OMIM:309000
HP:0031797	Clinical course	83475	DOHH	OMIM:620066
HP:0031797	Clinical course	84992	PIGY	OMIM:616809
HP:0031797	Clinical course	10236	HNRNPR	OMIM:620073
HP:0031797	Clinical course	51611	DPH5	OMIM:620070
HP:0031797	Clinical course	78989	COLEC11	OMIM:265050
HP:0031797	Clinical course	6558	SLC12A2	OMIM:619080
HP:0031797	Clinical course	6558	SLC12A2	OMIM:619081
HP:0031797	Clinical course	402	ARL2	OMIM:619082
HP:0031797	Clinical course	5159	PDGFRB	OMIM:601812
HP:0031797	Clinical course	554	AVPR2	OMIM:304800
HP:0031797	Clinical course	5192	PEX10	OMIM:614870
HP:0031797	Clinical course	55670	PEX26	OMIM:614872
HP:0031797	Clinical course	488	ATP2A2	OMIM:101900
HP:0031797	Clinical course	28976	ACAD9	OMIM:611126
HP:0031797	Clinical course	25828	TXN2	OMIM:616811
HP:0031797	Clinical course	1588	CYP19A1	OMIM:613546
HP:0031797	Clinical course	7443	VRK1	OMIM:607596
HP:0031797	Clinical course	471	ATIC	OMIM:608688
HP:0031797	Clinical course	6231	RPS26	OMIM:613309
HP:0031797	Clinical course	6204	RPS10	OMIM:613308
HP:0031797	Clinical course	65217	PCDH15	OMIM:609533
HP:0031797	Clinical course	65217	PCDH15	OMIM:602083
HP:0031797	Clinical course	3911	LAMA5	OMIM:620076
HP:0031797	Clinical course	3187	HNRNPH1	OMIM:620083
HP:0031797	Clinical course	7837	PXDN	OMIM:269400
HP:0031797	Clinical course	4920	ROR2	OMIM:268310
HP:0031797	Clinical course	4677	NARS1	OMIM:619091
HP:0031797	Clinical course	4677	NARS1	OMIM:619092
HP:0031797	Clinical course	81031	SLC2A10	OMIM:208050
HP:0031797	Clinical course	254065	BRWD3	OMIM:300659
HP:0031797	Clinical course	2059	EPS8	OMIM:615974
HP:0031797	Clinical course	26022	TMEM98	OMIM:615972
HP:0031797	Clinical course	140628	GATA5	OMIM:617912
HP:0031797	Clinical course	11023	VAX1	OMIM:614402
HP:0031797	Clinical course	5824	PEX19	OMIM:614886
HP:0031797	Clinical course	5195	PEX14	OMIM:614887
HP:0031797	Clinical course	157570	ESCO2	OMIM:268300
HP:0031797	Clinical course	5631	PRPS1	OMIM:300661
HP:0031797	Clinical course	9775	EIF4A3	OMIM:268305
HP:0031797	Clinical course	583	BBS2	OMIM:615981
HP:0031797	Clinical course	123016	TTC8	OMIM:615985
HP:0031797	Clinical course	51025	PAM16	OMIM:613320
HP:0031797	Clinical course	585	BBS4	OMIM:615982
HP:0031797	Clinical course	129880	BBS5	OMIM:615983
HP:0031797	Clinical course	22954	TRIM32	OMIM:615988
HP:0031797	Clinical course	51475	CABP2	OMIM:614899
HP:0031797	Clinical course	166379	BBS12	OMIM:615989
HP:0031797	Clinical course	10664	CTCF	OMIM:615502
HP:0031797	Clinical course	27241	BBS9	OMIM:615986
HP:0031797	Clinical course	1828	DSG1	OMIM:615508
HP:0031797	Clinical course	5054	SERPINE1	OMIM:613329
HP:0031797	Clinical course	865	CBFB	OMIM:620099
HP:0031797	Clinical course	6309	SC5D	OMIM:607330
HP:0031797	Clinical course	7051	TGM1	OMIM:242300
HP:0031797	Clinical course	579	NKX3-2	OMIM:613330
HP:0031797	Clinical course	4683	NBN	OMIM:251260
HP:0031797	Clinical course	11020	IFT27	OMIM:615996
HP:0031797	Clinical course	2984	GUCY2C	OMIM:614665
HP:0031797	Clinical course	81607	NECTIN4	OMIM:613573
HP:0031797	Clinical course	100151683	RNU4ATAC	OMIM:210710
HP:0031797	Clinical course	29926	GMPPA	OMIM:615510
HP:0031797	Clinical course	54585	LZTFL1	OMIM:615994
HP:0031797	Clinical course	5832	ALDH18A1	OMIM:616603
HP:0031797	Clinical course	7545	ZIC1	OMIM:616602
HP:0031797	Clinical course	658	BMPR1B	OMIM:616849
HP:0031797	Clinical course	1417	CRYBB3	OMIM:609741
HP:0031797	Clinical course	8556	CDC14A	OMIM:608653
HP:0031797	Clinical course	91179	SCARF2	OMIM:600920
HP:0031797	Clinical course	9662	CEP135	OMIM:614673
HP:0031797	Clinical course	10370	CITED2	OMIM:614431
HP:0031797	Clinical course	1482	NKX2-5	OMIM:614432
HP:0031797	Clinical course	1482	NKX2-5	OMIM:614435
HP:0031797	Clinical course	388389	DNAAF19	OMIM:614679
HP:0031797	Clinical course	30008	EFEMP2	OMIM:614437
HP:0031797	Clinical course	5831	PYCR1	OMIM:614438
HP:0031797	Clinical course	5915	RARB	OMIM:615524
HP:0031797	Clinical course	51010	EXOSC3	OMIM:614678
HP:0031797	Clinical course	51259	TMEM216	OMIM:603194
HP:0031797	Clinical course	64221	ROBO3	OMIM:607313
HP:0031797	Clinical course	55997	CFC1	OMIM:605376
HP:0031797	Clinical course	7454	WAS	OMIM:300299
HP:0031797	Clinical course	78987	CRELD1	OMIM:606217
HP:0031797	Clinical course	203068	TUBB	OMIM:615771
HP:0031797	Clinical course	9631	NUP155	OMIM:615770
HP:0031797	Clinical course	10265	IRX5	OMIM:611174
HP:0031797	Clinical course	81027	TUBB1	OMIM:613112
HP:0031797	Clinical course	7026	NR2F2	OMIM:615779
HP:0031797	Clinical course	27315	PGAP2	OMIM:614207
HP:0031797	Clinical course	51008	ASCC1	OMIM:616867
HP:0031797	Clinical course	708	C1QBP	OMIM:617713
HP:0031797	Clinical course	1063	CENPF	OMIM:243605
HP:0031797	Clinical course	29940	DSE	OMIM:615539
HP:0031797	Clinical course	91647	ATPAF2	OMIM:604273
HP:0031797	Clinical course	163183	SYNE4	OMIM:615540
HP:0031797	Clinical course	338917	VSX2	OMIM:610093
HP:0031797	Clinical course	79796	ALG9	OMIM:263210
HP:0031797	Clinical course	55750	AGK	OMIM:614691
HP:0031797	Clinical course	547	KIF1A	OMIM:614213
HP:0031797	Clinical course	54664	TMEM106B	OMIM:617964
HP:0031797	Clinical course	11280	SCN11A	OMIM:615548
HP:0031797	Clinical course	79633	FAT4	OMIM:615546
HP:0031797	Clinical course	124997	WDR81	OMIM:617967
HP:0031797	Clinical course	6785	ELOVL4	OMIM:614457
HP:0031797	Clinical course	9419	CRIPT	OMIM:615789
HP:0031797	Clinical course	55644	OSGEP	OMIM:617729
HP:0031797	Clinical course	57572	DOCK6	OMIM:614219
HP:0031797	Clinical course	59336	PRDM13	OMIM:619909
HP:0031797	Clinical course	242	ALOX12B	OMIM:242100
HP:0031797	Clinical course	401	PHOX2A	OMIM:602078
HP:0031797	Clinical course	8200	GDF5	OMIM:200700
HP:0031797	Clinical course	348938	NIPAL4	OMIM:612281
HP:0031797	Clinical course	6628	SNRPB	OMIM:117650
HP:0031797	Clinical course	112858	TP53RK	OMIM:617730
HP:0031797	Clinical course	6138	RPL15	OMIM:615550
HP:0031797	Clinical course	163786	SASS6	OMIM:616402
HP:0031797	Clinical course	25782	RAB3GAP2	OMIM:614225
HP:0031797	Clinical course	22931	RAB18	OMIM:614222
HP:0031797	Clinical course	23443	SLC35A3	OMIM:615553
HP:0031797	Clinical course	29957	SLC25A24	OMIM:612289
HP:0031797	Clinical course	3039	HBA1	OMIM:617973
HP:0031797	Clinical course	490	ATP2B1	OMIM:619910
HP:0031797	Clinical course	51776	MAP3K20	OMIM:616890
HP:0031797	Clinical course	3199	HOXA2	OMIM:612290
HP:0031797	Clinical course	51124	IER3IP1	OMIM:614231
HP:0031797	Clinical course	9918	NCAPD2	OMIM:617983
HP:0031797	Clinical course	54870	QRICH1	OMIM:617982
HP:0031797	Clinical course	2627	GATA6	OMIM:614474
HP:0031797	Clinical course	2627	GATA6	OMIM:614475
HP:0031797	Clinical course	11005	SPINK5	OMIM:256500
HP:0031797	Clinical course	4976	OPA1	OMIM:616896
HP:0031797	Clinical course	23397	NCAPH	OMIM:617985
HP:0031797	Clinical course	55704	CCDC88A	OMIM:617507
HP:0031797	Clinical course	5500	PPP1CB	OMIM:617506
HP:0031797	Clinical course	7253	TSHR	OMIM:275200
HP:0031797	Clinical course	3284	HSD3B2	OMIM:201810
HP:0031797	Clinical course	5889	RAD51C	OMIM:613390
HP:0031797	Clinical course	139818	DOCK11	OMIM:301109
HP:0031797	Clinical course	440	ASNS	OMIM:615574
HP:0031797	Clinical course	200205	IBA57	OMIM:615330
HP:0031797	Clinical course	7431	VIM	OMIM:116300
HP:0031797	Clinical course	1663	DDX11	OMIM:613398
HP:0031797	Clinical course	119559	SFXN4	OMIM:615578
HP:0031797	Clinical course	5718	PSMD12	OMIM:617516
HP:0031797	Clinical course	9439	MED23	OMIM:614249
HP:0031797	Clinical course	57731	SPTBN4	OMIM:617519
HP:0031797	Clinical course	10269	ZMPSTE24	OMIM:275210
HP:0031797	Clinical course	6223	RPS19	OMIM:105650
HP:0031797	Clinical course	10516	FBLN5	OMIM:219100
HP:0031797	Clinical course	139886	SPIN4	OMIM:301114
HP:0031797	Clinical course	5307	PITX1	OMIM:119800
HP:0031797	Clinical course	2902	GRIN1	OMIM:614254
HP:0031797	Clinical course	92935	MARS2	OMIM:616430
HP:0031797	Clinical course	22827	PUF60	OMIM:615583
HP:0031797	Clinical course	50484	RRM2B	OMIM:612075
HP:0031797	Clinical course	2815	GP9	OMIM:231200
HP:0031797	Clinical course	2811	GP1BA	OMIM:231200
HP:0031797	Clinical course	2812	GP1BB	OMIM:231200
HP:0031797	Clinical course	29089	UBE2T	OMIM:616435
HP:0031797	Clinical course	127534	GJB4	OMIM:617524
HP:0031797	Clinical course	85378	TUBGCP6	OMIM:251270
HP:0031797	Clinical course	4254	KITLG	OMIM:619947
HP:0031797	Clinical course	9181	ARHGEF2	OMIM:617523
HP:0031797	Clinical course	10058	ABCB6	OMIM:614497
HP:0031797	Clinical course	6688	SPI1	OMIM:619707
HP:0031797	Clinical course	55753	OGDHL	OMIM:619701
HP:0031797	Clinical course	9373	PLAA	OMIM:617527
HP:0031797	Clinical course	100128908	CIROP	OMIM:619702
HP:0031797	Clinical course	2531	KDSR	OMIM:617526
HP:0031797	Clinical course	401474	SAMD12	OMIM:601068
HP:0031797	Clinical course	51726	DNAJB11	OMIM:618061
HP:0031797	Clinical course	7072	TIA1	OMIM:604454
HP:0031797	Clinical course	23646	PLD3	OMIM:617770
HP:0031797	Clinical course	735	C9	OMIM:615591
HP:0031797	Clinical course	5949	RBP3	OMIM:615233
HP:0031797	Clinical course	463	ZFHX3	OMIM:613055
HP:0031797	Clinical course	9782	MATR3	OMIM:606070
HP:0031797	Clinical course	8291	DYSF	OMIM:254130
HP:0031797	Clinical course	5009	OTC	OMIM:311250
HP:0031797	Clinical course	100996717	NOTCH2NLC	OMIM:618866
HP:0031797	Clinical course	2153	F5	OMIM:600880
HP:0031797	Clinical course	2153	F5	OMIM:188055
HP:0031797	Clinical course	2153	F5	OMIM:601367
HP:0031797	Clinical course	3717	JAK2	OMIM:600880
HP:0031797	Clinical course	27327	TNRC6A	OMIM:618074
HP:0031797	Clinical course	2512	FTL	OMIM:600886
HP:0031797	Clinical course	2767	GNA11	OMIM:615361
HP:0031797	Clinical course	9693	RAPGEF2	OMIM:618075
HP:0031797	Clinical course	70	ACTC1	OMIM:612098
HP:0031797	Clinical course	64072	CDH23	OMIM:617540
HP:0031797	Clinical course	101060691	NUTM2B-AS1	OMIM:618637
HP:0031797	Clinical course	4790	NFKB1	OMIM:616576
HP:0031797	Clinical course	2332	FMR1	OMIM:311360
HP:0031797	Clinical course	84899	TMTC4	OMIM:620714
HP:0031797	Clinical course	54982	CLN6	OMIM:204300
HP:0031797	Clinical course	10165	SLC25A13	OMIM:603471
HP:0031797	Clinical course	9984	THOC1	OMIM:620280
HP:0031797	Clinical course	2642	GCGR	OMIM:619290
HP:0031797	Clinical course	348	APOE	OMIM:607822
HP:0031797	Clinical course	348	APOE	OMIM:269600
HP:0031797	Clinical course	5663	PSEN1	OMIM:607822
HP:0031797	Clinical course	729359	PLIN4	OMIM:601846
HP:0031797	Clinical course	23347	SMCHD1	OMIM:158901
HP:0031797	Clinical course	91	ACVR1B	OMIM:260350
HP:0031797	Clinical course	4089	SMAD4	OMIM:260350
HP:0031797	Clinical course	6794	STK11	OMIM:260350
HP:0031797	Clinical course	7157	TP53	OMIM:260350
HP:0031797	Clinical course	283677	REC114	OMIM:619176
HP:0031797	Clinical course	1540	CYLD	OMIM:601606
HP:0031797	Clinical course	1540	CYLD	OMIM:132700
HP:0031797	Clinical course	1540	CYLD	OMIM:605041
HP:0031797	Clinical course	91624	NEXN	OMIM:613876
HP:0031797	Clinical course	6575	SLC20A2	OMIM:213600
HP:0031797	Clinical course	5155	PDGFB	OMIM:213600
HP:0031797	Clinical course	5155	PDGFB	OMIM:607174
HP:0031797	Clinical course	9639	ARHGEF10	OMIM:608236
HP:0031797	Clinical course	9499	MYOT	OMIM:609200
HP:0031797	Clinical course	4151	MB	OMIM:620286
HP:0031797	Clinical course	5621	PRNP	OMIM:600072
HP:0031797	Clinical course	5621	PRNP	OMIM:137440
HP:0031797	Clinical course	7276	TTR	OMIM:105210
HP:0031797	Clinical course	10273	STUB1	OMIM:618093
HP:0031797	Clinical course	6687	SPG7	OMIM:607259
HP:0031797	Clinical course	5979	RET	OMIM:171400
HP:0031797	Clinical course	11232	POLG2	OMIM:610131
HP:0031797	Clinical course	7273	TTN	OMIM:613765
HP:0031797	Clinical course	7273	TTN	OMIM:603689
HP:0031797	Clinical course	7273	TTN	OMIM:600334
HP:0031797	Clinical course	56922	MCCC1	OMIM:210200
HP:0031797	Clinical course	54840	APTX	OMIM:208920
HP:0031797	Clinical course	4582	MUC1	OMIM:174000
HP:0031797	Clinical course	29880	ALG5	OMIM:620056
HP:0031797	Clinical course	6908	TBP	OMIM:607136
HP:0031797	Clinical course	6908	TBP	OMIM:168600
HP:0031797	Clinical course	2629	GBA1	OMIM:231000
HP:0031797	Clinical course	2629	GBA1	OMIM:168600
HP:0031797	Clinical course	2259	FGF14	OMIM:620174
HP:0031797	Clinical course	1938	EEF2	OMIM:609306
HP:0031797	Clinical course	4607	MYBPC3	OMIM:115197
HP:0031797	Clinical course	11277	TREX1	OMIM:192315
HP:0031797	Clinical course	7015	TERT	OMIM:614742
HP:0031797	Clinical course	7012	TERC	OMIM:614743
HP:0031797	Clinical course	79798	ARMC5	OMIM:615954
HP:0031797	Clinical course	8557	TCAP	OMIM:607487
HP:0031797	Clinical course	54440	SASH3	OMIM:301082
HP:0031797	Clinical course	8048	CSRP3	OMIM:607482
HP:0031797	Clinical course	8048	CSRP3	OMIM:612124
HP:0031797	Clinical course	4040	LRP6	OMIM:610947
HP:0031797	Clinical course	79966	SCD5	OMIM:619086
HP:0031797	Clinical course	3931	LCAT	OMIM:245900
HP:0031797	Clinical course	1674	DES	OMIM:604765
HP:0031797	Clinical course	1674	DES	OMIM:601419
HP:0031797	Clinical course	51750	RTEL1	OMIM:616373
HP:0031797	Clinical course	5073	PARN	OMIM:616371
HP:0031797	Clinical course	80206	FHOD3	OMIM:619402
HP:0031797	Clinical course	9247	GCM2	OMIM:617343
HP:0031797	Clinical course	23400	ATP13A2	OMIM:617225
HP:0031797	Clinical course	4625	MYH7	OMIM:613426
HP:0031797	Clinical course	866	SERPINA6	OMIM:611489
HP:0031797	Clinical course	57462	MYORG	OMIM:618317
HP:0031797	Clinical course	25913	POT1	OMIM:615848
HP:0031797	Clinical course	11155	LDB3	OMIM:601493
HP:0031797	Clinical course	4205	MEF2A	OMIM:608320
HP:0031797	Clinical course	57104	PNPLA2	OMIM:610717
HP:0031797	Clinical course	1769	DNAH8	OMIM:619095
HP:0031797	Clinical course	4846	NOS3	OMIM:601367
HP:0031797	Clinical course	4846	NOS3	OMIM:104300
HP:0031797	Clinical course	5583	PRKCH	OMIM:601367
HP:0031797	Clinical course	241	ALOX5AP	OMIM:601367
HP:0031797	Clinical course	775	CACNA1C	OMIM:618447
HP:0031797	Clinical course	2318	FLNC	OMIM:609524
HP:0031797	Clinical course	64241	ABCG8	OMIM:210250
HP:0031797	Clinical course	2475	MTOR	OMIM:607341
HP:0031797	Clinical course	7248	TSC1	OMIM:607341
HP:0031797	Clinical course	7249	TSC2	OMIM:607341
HP:0031797	Clinical course	6330	SCN4B	OMIM:611819
HP:0031797	Clinical course	56652	TWNK	OMIM:607459
HP:0031797	Clinical course	56652	TWNK	OMIM:609286
HP:0031797	Clinical course	5428	POLG	OMIM:607459
HP:0031797	Clinical course	5428	POLG	OMIM:157640
HP:0031797	Clinical course	3617	IMPG1	OMIM:616151
HP:0031797	Clinical course	5424	POLD1	OMIM:612591
HP:0031797	Clinical course	11231	SEC63	OMIM:617004
HP:0031797	Clinical course	144245	ALG10B	OMIM:613688
HP:0031797	Clinical course	3757	KCNH2	OMIM:613688
HP:0031797	Clinical course	57592	ZNF687	OMIM:616833
HP:0031797	Clinical course	23534	TNPO3	OMIM:608423
HP:0031797	Clinical course	2157	F8	OMIM:301071
HP:0031797	Clinical course	2934	GSN	OMIM:105120
HP:0031797	Clinical course	6310	ATXN1	OMIM:164400
HP:0031797	Clinical course	8322	FZD4	OMIM:133780
HP:0031797	Clinical course	4137	MAPT	OMIM:601104
HP:0031797	Clinical course	4137	MAPT	OMIM:260540
HP:0031797	Clinical course	4137	MAPT	OMIM:168600
HP:0031797	Clinical course	2774	GNAL	OMIM:615073
HP:0031797	Clinical course	126129	CPT1C	OMIM:616282
HP:0031797	Clinical course	7137	TNNI3	OMIM:613690
HP:0031797	Clinical course	9992	KCNE2	OMIM:613693
HP:0031797	Clinical course	8076	MFAP5	OMIM:616166
HP:0031797	Clinical course	79188	TMEM43	OMIM:614302
HP:0031797	Clinical course	1356	CP	OMIM:604290
HP:0031797	Clinical course	4171	MCM2	OMIM:616968
HP:0031797	Clinical course	2778	GNAS	OMIM:219080
HP:0031797	Clinical course	3081	HGD	OMIM:203500
HP:0031797	Clinical course	23345	SYNE1	OMIM:610743
HP:0031797	Clinical course	4353	MPO	OMIM:104300
HP:0031797	Clinical course	5328	PLAU	OMIM:104300
HP:0031797	Clinical course	351	APP	OMIM:104300
HP:0031797	Clinical course	4001	LMNB1	OMIM:169500
HP:0031797	Clinical course	27235	COQ2	OMIM:146500
HP:0031797	Clinical course	718	C3	OMIM:612925
HP:0031797	Clinical course	669	BPGM	OMIM:222800
HP:0031797	Clinical course	1743	DLST	OMIM:618475
HP:0031797	Clinical course	518	ATP5MC3	OMIM:619681
HP:0031797	Clinical course	6598	SMARCB1	OMIM:162091
HP:0031797	Clinical course	5244	ABCB4	OMIM:600803
HP:0031797	Clinical course	2784	GNB3	OMIM:617024
HP:0031797	Clinical course	123624	AGBL1	OMIM:615523
HP:0031797	Clinical course	4363	ABCC1	OMIM:618915
HP:0031797	Clinical course	2027	ENO3	OMIM:612932
HP:0031797	Clinical course	54344	DPM3	OMIM:612937
HP:0031797	Clinical course	2710	GK	OMIM:307030
HP:0031797	Clinical course	6391	SDHC	OMIM:605373
HP:0031797	Clinical course	8915	BCL10	OMIM:137245
HP:0031797	Clinical course	4633	MYL2	OMIM:608758
HP:0031797	Clinical course	3315	HSPB1	OMIM:608634
HP:0031797	Clinical course	29978	UBQLN2	OMIM:300857
HP:0031797	Clinical course	55737	VPS35	OMIM:614203
HP:0031797	Clinical course	79628	SH3TC2	OMIM:613353
HP:0031797	Clinical course	56244	BTNL2	OMIM:612387
HP:0031797	Clinical course	64423	INF2	OMIM:613237
HP:0031797	Clinical course	3273	HRG	OMIM:613116
HP:0031797	Clinical course	1285	COL4A3	OMIM:620320
HP:0031797	Clinical course	549	AUH	OMIM:250950
HP:0031797	Clinical course	2771	GNAI2	OMIM:192605
HP:0031797	Clinical course	11315	PARK7	OMIM:606324
HP:0031797	Clinical course	219972	MPEG1	OMIM:619223
HP:0031797	Clinical course	51428	DDX41	OMIM:616871
HP:0031797	Clinical course	5981	RFC1	OMIM:614575
HP:0031797	Clinical course	130951	M1AP	OMIM:619108
HP:0031797	Clinical course	595	CCND1	OMIM:254500
HP:0031797	Clinical course	3981	LIG4	OMIM:254500
HP:0031797	Clinical course	9563	H6PD	OMIM:604931
HP:0031797	Clinical course	5137	PDE1C	OMIM:618140
HP:0031797	Clinical course	11284	PNKP	OMIM:605589
HP:0031797	Clinical course	55213	RCBTB1	OMIM:617175
HP:0031797	Clinical course	6424	SFRP4	OMIM:265900
HP:0031797	Clinical course	1789	DNMT3B	OMIM:619478
HP:0031797	Clinical course	6336	SCN10A	OMIM:615551
HP:0031797	Clinical course	115650	TNFRSF13C	OMIM:613494
HP:0031797	Clinical course	6935	ZEB1	OMIM:609141
HP:0031797	Clinical course	5592	PRKG1	OMIM:615436
HP:0031797	Clinical course	246213	SLC17A8	OMIM:605583
HP:0031797	Clinical course	1639	DCTN1	OMIM:607641
HP:0031797	Clinical course	1639	DCTN1	OMIM:105400
HP:0031797	Clinical course	1639	DCTN1	OMIM:168605
HP:0031797	Clinical course	7345	UCHL1	OMIM:620221
HP:0031797	Clinical course	5589	PRKCSH	OMIM:174050
HP:0031797	Clinical course	203228	C9orf72	OMIM:105550
HP:0031797	Clinical course	54949	SDHAF2	OMIM:601650
HP:0031797	Clinical course	56910	STARD7	OMIM:607876
HP:0031797	Clinical course	5728	PTEN	OMIM:158350
HP:0031797	Clinical course	5728	PTEN	OMIM:607174
HP:0031797	Clinical course	7504	XK	OMIM:300842
HP:0031797	Clinical course	476	ATP1A1	OMIM:618036
HP:0031797	Clinical course	7222	TRPC3	OMIM:616410
HP:0031797	Clinical course	10699	CORIN	OMIM:614595
HP:0031797	Clinical course	2956	MSH6	OMIM:614350
HP:0031797	Clinical course	9213	XPR1	OMIM:616413
HP:0031797	Clinical course	6925	TCF4	OMIM:613267
HP:0031797	Clinical course	4913	NTHL1	OMIM:616415
HP:0031797	Clinical course	10342	TFG	OMIM:604484
HP:0031797	Clinical course	8930	MBD4	OMIM:606660
HP:0031797	Clinical course	1756	DMD	OMIM:300376
HP:0031797	Clinical course	3123	HLA-DRB1	OMIM:181000
HP:0031797	Clinical course	3123	HLA-DRB1	OMIM:126200
HP:0031797	Clinical course	4221	MEN1	OMIM:131100
HP:0031797	Clinical course	56983	POGLUT1	OMIM:615696
HP:0031797	Clinical course	7056	THBD	OMIM:614486
HP:0031797	Clinical course	6522	SLC4A2	OMIM:620366
HP:0031797	Clinical course	4668	NAGA	OMIM:609242
HP:0031797	Clinical course	65057	ACD	OMIM:616553
HP:0031797	Clinical course	6041	RNASEL	OMIM:601518
HP:0031797	Clinical course	159686	CFAP58	OMIM:619144
HP:0031797	Clinical course	999	CDH1	OMIM:137215
HP:0031797	Clinical course	29110	TBK1	OMIM:616439
HP:0031797	Clinical course	207	AKT1	OMIM:615109
HP:0031797	Clinical course	3075	CFH	OMIM:610698
HP:0031797	Clinical course	1584	CYP11B1	OMIM:103900
HP:0031797	Clinical course	4287	ATXN3	OMIM:168600
HP:0031797	Clinical course	126	ADH1C	OMIM:168600
HP:0031797	Clinical course	4576	MT-TT	OMIM:168600
HP:0031797	Clinical course	9627	SNCAIP	OMIM:168600
HP:0031797	Clinical course	4929	NR4A2	OMIM:168600
HP:0031797	Clinical course	6311	ATXN2	OMIM:168600
HP:0031797	Clinical course	6315	ATXN8OS	OMIM:168600
HP:0031797	Clinical course	6647	SOD1	OMIM:105400
HP:0031797	Clinical course	5630	PRPH	OMIM:105400
HP:0031797	Clinical course	4744	NEFH	OMIM:105400
HP:0031797	Clinical course	1829	DSG2	OMIM:612877
HP:0031797	Clinical course	9987	HNRNPDL	OMIM:609115
HP:0031797	Clinical course	6605	SMARCE1	OMIM:607174
HP:0031797	Clinical course	4330	MN1	OMIM:607174
HP:0031797	Clinical course	4771	NF2	OMIM:607174
HP:0031797	Clinical course	3119	HLA-DQB1	OMIM:126200
HP:0031797	Clinical course	6786	STIM1	OMIM:160565
HP:0031797	Clinical course	114902	C1QTNF5	OMIM:605670
HP:0031797	Clinical course	7384	UQCRC1	OMIM:619279
HP:0031797	Clinical course	146227	BEAN1	OMIM:117210
HP:0031797	Clinical course	6208	RPS14	OMIM:153550
HP:0031797	Clinical course	4750	NEK1	OMIM:617892
HP:0031797	Clinical course	4311	MME	OMIM:617018
HP:0031797	Clinical course	5664	PSEN2	OMIM:613697
HP:0031797	Clinical course	3910	LAMA4	OMIM:615235
HP:0031797	Clinical course	2066	ERBB4	OMIM:615515
HP:0031797	Clinical course	7277	TUBA4A	OMIM:616208
HP:0031797	Clinical course	3875	KRT18	OMIM:215600
HP:0031797	Clinical course	84665	MYPN	OMIM:615248
HP:0031797	Clinical course	644	BLVRA	OMIM:614156
HP:0031797	Clinical course	26011	TENM4	OMIM:616736
HP:0031797	Clinical course	1824	DSC2	OMIM:610476
HP:0031797	Clinical course	4884	NPTX1	OMIM:620158
HP:0031797	Clinical course	54822	TRPM7	OMIM:105500
HP:0031797	Clinical course	4010	LMX1B	OMIM:256020
HP:0031797	Clinical course	6597	SMARCA4	OMIM:620792
HP:0031797	Clinical course	10878	CFHR3	OMIM:603075
HP:0031797	Clinical course	83872	HMCN1	OMIM:603075
HP:0031797	Clinical course	3078	CFHR1	OMIM:603075
HP:0031797	Clinical course	146057	TTBK2	OMIM:604432
HP:0031797	Clinical course	653509	SFTPA1	OMIM:619611
HP:0031797	Clinical course	7045	TGFBI	OMIM:608471
HP:0031797	Clinical course	3818	KLKB1	OMIM:612423
HP:0031797	Clinical course	5173	PDYN	OMIM:610245
HP:0031797	Clinical course	825	CAPN3	OMIM:618129
HP:0031797	Clinical course	7123	CLEC3B	OMIM:619977
HP:0031797	Clinical course	311	ANXA11	OMIM:617839
HP:0031797	Clinical course	4015	LOX	OMIM:617168
HP:0031797	Clinical course	2992	GYG1	OMIM:616199
HP:0031797	Clinical course	10347	ABCA7	OMIM:608907
HP:0031797	Clinical course	9531	BAG3	OMIM:613881
HP:0031797	Clinical course	6392	SDHD	OMIM:168000
HP:0031797	Clinical course	9256	TSPOAP1	OMIM:620456
HP:0031797	Clinical course	4624	MYH6	OMIM:613251
HP:0031797	Clinical course	7414	VCL	OMIM:613255
HP:0031797	Clinical course	389692	MAFA	OMIM:147630
HP:0031797	Clinical course	7134	TNNC1	OMIM:611879
HP:0031797	Clinical course	84868	HAVCR2	OMIM:618398
HP:0031797	Clinical course	10483	SEC23B	OMIM:224100
HP:0031797	Clinical course	6934	TCF7L2	OMIM:125853
HP:0031797	Clinical course	5078	PAX4	OMIM:125853
HP:0031797	Clinical course	3569	IL6	OMIM:125853
HP:0031797	Clinical course	3990	LIPC	OMIM:125853
HP:0031797	Clinical course	6927	HNF1A	OMIM:125853
HP:0031797	Clinical course	4760	NEUROD1	OMIM:125853
HP:0031797	Clinical course	5506	PPP1R3A	OMIM:125853
HP:0031797	Clinical course	169026	SLC30A8	OMIM:125853
HP:0031797	Clinical course	2820	GPD2	OMIM:125853
HP:0031797	Clinical course	6928	HNF1B	OMIM:125853
HP:0031797	Clinical course	5468	PPARG	OMIM:125853
HP:0031797	Clinical course	5770	PTPN1	OMIM:125853
HP:0031797	Clinical course	8660	IRS2	OMIM:125853
HP:0031797	Clinical course	3159	HMGA1	OMIM:125853
HP:0031797	Clinical course	3667	IRS1	OMIM:125853
HP:0031797	Clinical course	9479	MAPK8IP1	OMIM:125853
HP:0031797	Clinical course	4544	MTNR1B	OMIM:125853
HP:0031797	Clinical course	56729	RETN	OMIM:125853
HP:0031797	Clinical course	7466	WFS1	OMIM:125853
HP:0031797	Clinical course	2645	GCK	OMIM:125853
HP:0031797	Clinical course	10644	IGF2BP2	OMIM:125853
HP:0031797	Clinical course	5654	HTRA1	OMIM:616779
HP:0031797	Clinical course	120892	LRRK2	OMIM:607060
HP:0031797	Clinical course	23435	TARDBP	OMIM:612069
HP:0031797	Clinical course	3752	KCND3	OMIM:607346
HP:0031797	Clinical course	654	BMP6	OMIM:620121
HP:0031797	Clinical course	899	CCNF	OMIM:619141
HP:0031797	Clinical course	23193	GANAB	OMIM:600666
HP:0031797	Clinical course	54443	ANLN	OMIM:616032
HP:0031797	Clinical course	50939	IMPG2	OMIM:616152
HP:0031797	Clinical course	79875	THSD4	OMIM:619825
HP:0031797	Clinical course	51142	CHCHD2	OMIM:616710
HP:0031797	Clinical course	8996	NOL3	OMIM:614937
HP:0031797	Clinical course	27199	OXGR1	OMIM:620374
HP:0031797	Clinical course	1981	EIF4G1	OMIM:614251
HP:0031797	Clinical course	5376	PMP22	OMIM:118220
HP:0031797	Clinical course	3071	NCKAP1L	OMIM:618982
HP:0031797	Clinical course	51256	TBC1D7	OMIM:248000
HP:0031797	Clinical course	340533	NEXMIF	OMIM:300912
HP:0031797	Clinical course	5993	RFX5	OMIM:620818
HP:0031797	Clinical course	5993	RFX5	OMIM:620816
HP:0031797	Clinical course	23135	KDM6B	OMIM:618505
HP:0031797	Clinical course	55240	STEAP3	OMIM:615234
HP:0031797	Clinical course	23334	SZT2	OMIM:615476
HP:0031797	Clinical course	4919	ROR1	OMIM:617654
HP:0031797	Clinical course	56704	JPH1	OMIM:607831
HP:0031797	Clinical course	161582	DNAAF4	OMIM:615482
HP:0031797	Clinical course	6487	ST3GAL3	OMIM:615006
HP:0031797	Clinical course	7532	YWHAG	OMIM:617665
HP:0031797	Clinical course	55904	KMT2E	OMIM:618512
HP:0031797	Clinical course	84520	GON7	OMIM:619603
HP:0031797	Clinical course	24142	NAA80	OMIM:620830
HP:0031797	Clinical course	7054	TH	OMIM:605407
HP:0031797	Clinical course	1080	CFTR	OMIM:219700
HP:0031797	Clinical course	2212	FCGR2A	OMIM:219700
HP:0031797	Clinical course	7040	TGFB1	OMIM:219700
HP:0031797	Clinical course	1896	EDA	OMIM:305100
HP:0031797	Clinical course	4318	MMP9	OMIM:613073
HP:0031797	Clinical course	23321	TRIM2	OMIM:615490
HP:0031797	Clinical course	818	CAMK2G	OMIM:618522
HP:0031797	Clinical course	54453	RIN2	OMIM:613075
HP:0031797	Clinical course	5105	PCK1	OMIM:261680
HP:0031797	Clinical course	6884	TAF13	OMIM:617432
HP:0031797	Clinical course	7343	UBTF	OMIM:617672
HP:0031797	Clinical course	6844	VAMP2	OMIM:618760
HP:0031797	Clinical course	64834	ELOVL1	OMIM:618527
HP:0031797	Clinical course	7852	CXCR4	OMIM:193670
HP:0031797	Clinical course	3064	HTT	OMIM:617435
HP:0031797	Clinical course	54543	TOMM7	OMIM:620601
HP:0031797	Clinical course	3614	IMPDH1	OMIM:180105
HP:0031797	Clinical course	90167	FRMD7	OMIM:310700
HP:0031797	Clinical course	1105	CHD1	OMIM:617682
HP:0031797	Clinical course	54795	TRPM4	OMIM:618531
HP:0031797	Clinical course	1594	CYP27B1	OMIM:264700
HP:0031797	Clinical course	8789	FBP2	OMIM:619864
HP:0031797	Clinical course	3340	NDST1	OMIM:616116
HP:0031797	Clinical course	284184	NDUFAF8	OMIM:618776
HP:0031797	Clinical course	11193	WBP4	OMIM:620852
HP:0031797	Clinical course	4247	MGAT2	OMIM:212066
HP:0031797	Clinical course	167691	LCA5	OMIM:604537
HP:0031797	Clinical course	30009	TBX21	OMIM:619630
HP:0031797	Clinical course	55768	NGLY1	OMIM:615273
HP:0031797	Clinical course	26038	CHD5	OMIM:619873
HP:0031797	Clinical course	5034	P4HB	OMIM:112240
HP:0031797	Clinical course	8482	SEMA7A	OMIM:619874
HP:0031797	Clinical course	55621	TRMT1	OMIM:618302
HP:0031797	Clinical course	3737	KCNA2	OMIM:616366
HP:0031797	Clinical course	5593	PRKG2	OMIM:619638
HP:0031797	Clinical course	9636	ISG15	OMIM:616126
HP:0031797	Clinical course	92609	TIMM50	OMIM:617698
HP:0031797	Clinical course	5357	PLS1	OMIM:618787
HP:0031797	Clinical course	7173	TPO	OMIM:274500
HP:0031797	Clinical course	111	ADCY5	OMIM:606703
HP:0031797	Clinical course	111	ADCY5	OMIM:619651
HP:0031797	Clinical course	3507	IGHM	OMIM:601495
HP:0031797	Clinical course	5605	MAP2K2	OMIM:615280
HP:0031797	Clinical course	54828	BCAS3	OMIM:619641
HP:0031797	Clinical course	8989	TRPA1	OMIM:615040
HP:0031797	Clinical course	57169	ZNFX1	OMIM:619644
HP:0031797	Clinical course	27068	PPA2	OMIM:617222
HP:0031797	Clinical course	113179	ADAT3	OMIM:615286
HP:0031797	Clinical course	1742	DLG4	OMIM:618793
HP:0031797	Clinical course	2904	GRIN2B	OMIM:616139
HP:0031797	Clinical course	4285	MIPEP	OMIM:617228
HP:0031797	Clinical course	2314	FLII	OMIM:620635
HP:0031797	Clinical course	10531	PITRM1	OMIM:619405
HP:0031797	Clinical course	6901	TAFAZZIN	OMIM:302060
HP:0031797	Clinical course	57609	DIP2B	OMIM:136630
HP:0031797	Clinical course	4488	MSX2	OMIM:604757
HP:0031797	Clinical course	4351	MPI	OMIM:602579
HP:0031797	Clinical course	55739	NAXD	OMIM:618321
HP:0031797	Clinical course	5354	PLP1	OMIM:312080
HP:0031797	Clinical course	5354	PLP1	OMIM:312920
HP:0031797	Clinical course	7143	TNR	OMIM:619653
HP:0031797	Clinical course	5917	RARS1	OMIM:616140
HP:0031797	Clinical course	8565	YARS1	OMIM:619418
HP:0031797	Clinical course	6572	SLC18A3	OMIM:617239
HP:0031797	Clinical course	5741	PTH	OMIM:146200
HP:0031797	Clinical course	2720	GLB1	OMIM:230500
HP:0031797	Clinical course	23499	MACF1	OMIM:618325
HP:0031797	Clinical course	6476	SI	OMIM:222900
HP:0031797	Clinical course	10533	ATG7	OMIM:619422
HP:0031797	Clinical course	1523	CUX1	OMIM:618330
HP:0031797	Clinical course	120	ADD3	OMIM:617008
HP:0031797	Clinical course	3000	GUCY2D	OMIM:204000
HP:0031797	Clinical course	7535	ZAP70	OMIM:617006
HP:0031797	Clinical course	7535	ZAP70	OMIM:269840
HP:0031797	Clinical course	171546	SPTSSA	OMIM:620416
HP:0031797	Clinical course	171546	SPTSSA	OMIM:620417
HP:0031797	Clinical course	1642	DDB1	OMIM:619426
HP:0031797	Clinical course	389827	MYMK	OMIM:254940
HP:0031797	Clinical course	9949	AMMECR1	OMIM:300990
HP:0031797	Clinical course	57459	GATAD2B	OMIM:615074
HP:0031797	Clinical course	84894	LINGO1	OMIM:618103
HP:0031797	Clinical course	7053	TGM3	OMIM:617251
HP:0031797	Clinical course	160418	TMTC3	OMIM:617255
HP:0031797	Clinical course	2187	FANCB	OMIM:300514
HP:0031797	Clinical course	54517	PUS7	OMIM:618342
HP:0031797	Clinical course	10564	ARFGEF2	OMIM:608097
HP:0031797	Clinical course	4967	OGDH	OMIM:203740
HP:0031797	Clinical course	3659	IRF1	OMIM:620668
HP:0031797	Clinical course	6418	SET	OMIM:618106
HP:0031797	Clinical course	4703	NEB	OMIM:256030
HP:0031797	Clinical course	959	CD40LG	OMIM:308230
HP:0031797	Clinical course	1120	CHKB	OMIM:602541
HP:0031797	Clinical course	29887	SNX10	OMIM:615085
HP:0031797	Clinical course	64801	ARV1	OMIM:617020
HP:0031797	Clinical course	6096	RORB	OMIM:618357
HP:0031797	Clinical course	112755	STX1B	OMIM:616172
HP:0031797	Clinical course	5568	PRKACG	OMIM:616176
HP:0031797	Clinical course	23043	TNIK	OMIM:617028
HP:0031797	Clinical course	8912	CACNA1H	OMIM:617027
HP:0031797	Clinical course	23524	SRRM2	OMIM:620439
HP:0031797	Clinical course	64065	PERP	OMIM:619208
HP:0031797	Clinical course	868	CBLB	OMIM:620430
HP:0031797	Clinical course	79709	COLGALT1	OMIM:618360
HP:0031797	Clinical course	55777	MBD5	OMIM:156200
HP:0031797	Clinical course	51132	RLIM	OMIM:300978
HP:0031797	Clinical course	10588	MTHFS	OMIM:618367
HP:0031797	Clinical course	51434	ANAPC7	OMIM:619699
HP:0031797	Clinical course	24140	FTSJ1	OMIM:309549
HP:0031797	Clinical course	6601	SMARCC2	OMIM:618362
HP:0031797	Clinical course	92255	LMBRD2	OMIM:619694
HP:0031797	Clinical course	9020	MAP3K14	OMIM:620449
HP:0031797	Clinical course	51704	GPRC5B	OMIM:620447
HP:0031797	Clinical course	361	AQP4	OMIM:620448
HP:0031797	Clinical course	9675	TTI1	OMIM:620445
HP:0031797	Clinical course	3183	HNRNPC	OMIM:620688
HP:0031797	Clinical course	819	CAMLG	OMIM:620201
HP:0031797	Clinical course	10083	USH1C	OMIM:276900
HP:0031797	Clinical course	51608	GET4	OMIM:620200
HP:0031797	Clinical course	56776	FMN2	OMIM:616193
HP:0031797	Clinical course	2064	ERBB2	OMIM:619465
HP:0031797	Clinical course	55630	SLC39A4	OMIM:201100
HP:0031797	Clinical course	254428	SLC41A1	OMIM:619468
HP:0031797	Clinical course	9758	FRMPD4	OMIM:300983
HP:0031797	Clinical course	7174	TPP2	OMIM:619220
HP:0031797	Clinical course	23328	SASH1	OMIM:618373
HP:0031797	Clinical course	23328	SASH1	OMIM:127500
HP:0031797	Clinical course	4761	NEUROD2	OMIM:618374
HP:0031797	Clinical course	3188	HNRNPH2	OMIM:300986
HP:0031797	Clinical course	1974	EIF4A2	OMIM:620455
HP:0031797	Clinical course	55186	SLC25A36	OMIM:620211
HP:0031797	Clinical course	9294	S1PR2	OMIM:610419
HP:0031797	Clinical course	4035	LRP1	OMIM:620690
HP:0031797	Clinical course	4035	LRP1	OMIM:604093
HP:0031797	Clinical course	83480	PUS3	OMIM:617051
HP:0031797	Clinical course	23316	CUX2	OMIM:618141
HP:0031797	Clinical course	570	BAAT	OMIM:619232
HP:0031797	Clinical course	94005	PIGS	OMIM:618143
HP:0031797	Clinical course	83706	FERMT3	OMIM:612840
HP:0031797	Clinical course	8452	CUL3	OMIM:619239
HP:0031797	Clinical course	9968	MED12	OMIM:309520
HP:0031797	Clinical course	527	ATP6V0C	OMIM:620465
HP:0031797	Clinical course	8720	MBTPS1	OMIM:618392
HP:0031797	Clinical course	1457	CSNK2A1	OMIM:617062
HP:0031797	Clinical course	7204	TRIO	OMIM:617061
HP:0031797	Clinical course	7204	TRIO	OMIM:618825
HP:0031797	Clinical course	5058	PAK1	OMIM:618158
HP:0031797	Clinical course	200931	SLC51A	OMIM:619484
HP:0031797	Clinical course	1654	DDX3X	OMIM:300958
HP:0031797	Clinical course	3419	IDH3A	OMIM:619007
HP:0031797	Clinical course	54977	SLC25A38	OMIM:205950
HP:0031797	Clinical course	23096	IQSEC2	OMIM:309530
HP:0031797	Clinical course	7284	TUFM	OMIM:610678
HP:0031797	Clinical course	3921	RPSA	OMIM:271400
HP:0031797	Clinical course	26278	SACS	OMIM:270550
HP:0031797	Clinical course	55599	RNPC3	OMIM:618160
HP:0031797	Clinical course	80267	EDEM3	OMIM:619493
HP:0031797	Clinical course	63899	NSUN3	OMIM:619012
HP:0031797	Clinical course	1315	COPB1	OMIM:619255
HP:0031797	Clinical course	8831	SYNGAP1	OMIM:612621
HP:0031797	Clinical course	203190	LGI3	OMIM:620007
HP:0031797	Clinical course	11043	MID2	OMIM:300928
HP:0031797	Clinical course	4644	MYO5A	OMIM:214450
HP:0031797	Clinical course	5903	RANBP2	OMIM:608033
HP:0031797	Clinical course	2801	GOLGA2	OMIM:620240
HP:0031797	Clinical course	64802	NMNAT1	OMIM:619260
HP:0031797	Clinical course	64802	NMNAT1	OMIM:608553
HP:0031797	Clinical course	64432	MRPS25	OMIM:619025
HP:0031797	Clinical course	5860	QDPR	OMIM:261630
HP:0031797	Clinical course	375056	MIA3	OMIM:619269
HP:0031797	Clinical course	1496	CTNNA2	OMIM:618174
HP:0031797	Clinical course	83550	GPR101	OMIM:300942
HP:0031797	Clinical course	6326	SCN2A	OMIM:613721
HP:0031797	Clinical course	6326	SCN2A	OMIM:607745
HP:0031797	Clinical course	23236	PLCB1	OMIM:613722
HP:0031797	Clinical course	5256	PHKA2	OMIM:306000
HP:0031797	Clinical course	5696	PSMB8	OMIM:256040
HP:0031797	Clinical course	6235	RPS29	OMIM:615909
HP:0031797	Clinical course	2760	GM2A	OMIM:272750
HP:0031797	Clinical course	4693	NDP	OMIM:305390
HP:0031797	Clinical course	4693	NDP	OMIM:310600
HP:0031797	Clinical course	5138	PDE2A	OMIM:619150
HP:0031797	Clinical course	64374	SIL1	OMIM:248800
HP:0031797	Clinical course	6535	SLC6A8	OMIM:300352
HP:0031797	Clinical course	26960	NBEA	OMIM:619157
HP:0031797	Clinical course	1183	CLCN4	OMIM:300114
HP:0031797	Clinical course	27178	IL37	OMIM:619398
HP:0031797	Clinical course	80308	FLAD1	OMIM:255100
HP:0031797	Clinical course	10312	TCIRG1	OMIM:259700
HP:0031797	Clinical course	4598	MVK	OMIM:260920
HP:0031797	Clinical course	4598	MVK	OMIM:610377
HP:0031797	Clinical course	781	CACNA2D1	OMIM:620149
HP:0031797	Clinical course	6165	RPL35A	OMIM:612528
HP:0031797	Clinical course	51343	FZR1	OMIM:620145
HP:0031797	Clinical course	10093	ARPC4	OMIM:620141
HP:0031797	Clinical course	146167	SLC38A8	OMIM:609218
HP:0031797	Clinical course	2623	GATA1	OMIM:300367
HP:0031797	Clinical course	2623	GATA1	OMIM:300835
HP:0031797	Clinical course	23149	FCHO1	OMIM:619164
HP:0031797	Clinical course	51506	UFC1	OMIM:618076
HP:0031797	Clinical course	644096	SDHAF1	OMIM:619166
HP:0031797	Clinical course	80055	PGAP1	OMIM:615802
HP:0031797	Clinical course	10978	CLP1	OMIM:615803
HP:0031797	Clinical course	771	CA12	OMIM:143860
HP:0031797	Clinical course	3988	LIPA	OMIM:620151
HP:0031797	Clinical course	3988	LIPA	OMIM:278000
HP:0031797	Clinical course	7175	TPR	OMIM:620393
HP:0031797	Clinical course	58528	RRAGD	OMIM:620152
HP:0031797	Clinical course	6197	RPS6KA3	OMIM:303600
HP:0031797	Clinical course	966	CD59	OMIM:612300
HP:0031797	Clinical course	2538	G6PC1	OMIM:232200
HP:0031797	Clinical course	3953	LEPR	OMIM:614963
HP:0031797	Clinical course	26504	CNNM4	OMIM:217080
HP:0031797	Clinical course	64087	MCCC2	OMIM:210210
HP:0031797	Clinical course	56984	PSMG2	OMIM:619183
HP:0031797	Clinical course	815	CAMK2A	OMIM:618095
HP:0031797	Clinical course	815	CAMK2A	OMIM:617798
HP:0031797	Clinical course	1591	CYP24A1	OMIM:143880
HP:0031797	Clinical course	4915	NTRK2	OMIM:613886
HP:0031797	Clinical course	113235	SLC46A1	OMIM:229050
HP:0031797	Clinical course	10522	DEAF1	OMIM:615828
HP:0031797	Clinical course	10522	DEAF1	OMIM:617171
HP:0031797	Clinical course	30011	SH3KBP1	OMIM:300310
HP:0031797	Clinical course	3588	IL10RB	OMIM:612567
HP:0031797	Clinical course	1650	DDOST	OMIM:614507
HP:0031797	Clinical course	55719	SLF2	OMIM:620184
HP:0031797	Clinical course	55343	SLC35C1	OMIM:266265
HP:0031797	Clinical course	79759	ZNF668	OMIM:620194
HP:0031797	Clinical course	283209	PGM2L1	OMIM:620191
HP:0031797	Clinical course	1737	DLAT	OMIM:245348
HP:0031797	Clinical course	23261	CAMTA1	OMIM:614756
HP:0031797	Clinical course	56623	INPP5E	OMIM:610156
HP:0031797	Clinical course	10472	ZBTB18	OMIM:612337
HP:0031797	Clinical course	917	CD3G	OMIM:615607
HP:0031797	Clinical course	6017	RLBP1	OMIM:607476
HP:0031797	Clinical course	1962	EHHADH	OMIM:615605
HP:0031797	Clinical course	84946	LTV1	OMIM:620199
HP:0031797	Clinical course	55084	SOBP	OMIM:613671
HP:0031797	Clinical course	27086	FOXP1	OMIM:613670
HP:0031797	Clinical course	919	CD247	OMIM:610163
HP:0031797	Clinical course	6929	TCF3	OMIM:616941
HP:0031797	Clinical course	6929	TCF3	OMIM:619824
HP:0031797	Clinical course	55149	MTPAP	OMIM:613672
HP:0031797	Clinical course	916	CD3E	OMIM:615615
HP:0031797	Clinical course	79718	TBL1XR1	OMIM:616944
HP:0031797	Clinical course	51322	WAC	OMIM:616708
HP:0031797	Clinical course	915	CD3D	OMIM:615617
HP:0031797	Clinical course	85440	DOCK7	OMIM:615859
HP:0031797	Clinical course	65125	WNK1	OMIM:201300
HP:0031797	Clinical course	5962	RDX	OMIM:611022
HP:0031797	Clinical course	4208	MEF2C	OMIM:613443
HP:0031797	Clinical course	22907	DHX30	OMIM:617804
HP:0031797	Clinical course	196528	ARID2	OMIM:617808
HP:0031797	Clinical course	57410	SCYL1	OMIM:616719
HP:0031797	Clinical course	9230	RAB11B	OMIM:617807
HP:0031797	Clinical course	10075	HUWE1	OMIM:309590
HP:0031797	Clinical course	348980	HCN1	OMIM:615871
HP:0031797	Clinical course	4688	NCF2	OMIM:233710
HP:0031797	Clinical course	8733	GPAA1	OMIM:617810
HP:0031797	Clinical course	79092	CARD14	OMIM:173200
HP:0031797	Clinical course	89970	RSPRY1	OMIM:616723
HP:0031797	Clinical course	50943	FOXP3	OMIM:304790
HP:0031797	Clinical course	5279	PIGC	OMIM:617816
HP:0031797	Clinical course	79650	USB1	OMIM:604173
HP:0031797	Clinical course	9150	CTDP1	OMIM:604168
HP:0031797	Clinical course	3718	JAK3	OMIM:600802
HP:0031797	Clinical course	3074	HEXB	OMIM:268800
HP:0031797	Clinical course	5160	PDHA1	OMIM:312170
HP:0031797	Clinical course	11151	CORO1A	OMIM:615401
HP:0031797	Clinical course	6144	RPL21	OMIM:615885
HP:0031797	Clinical course	4792	NFKBIA	OMIM:612132
HP:0031797	Clinical course	2782	GNB1	OMIM:616973
HP:0031797	Clinical course	1545	CYP1B1	OMIM:231300
HP:0031797	Clinical course	50	ACO2	OMIM:614559
HP:0031797	Clinical course	3176	HNMT	OMIM:616739
HP:0031797	Clinical course	51135	IRAK4	OMIM:607676
HP:0031797	Clinical course	84679	SLC9A7	OMIM:301024
HP:0031797	Clinical course	5251	PHEX	OMIM:307800
HP:0031797	Clinical course	4694	NDUFA1	OMIM:301020
HP:0031797	Clinical course	25953	PNKD	OMIM:118800
HP:0031797	Clinical course	23732	FRRS1L	OMIM:616981
HP:0031797	Clinical course	63035	BCORL1	OMIM:301029
HP:0031797	Clinical course	1778	DYNC1H1	OMIM:614563
HP:0031797	Clinical course	6678	SPARC	OMIM:616507
HP:0031797	Clinical course	84693	MCEE	OMIM:251120
HP:0031797	Clinical course	51185	CRBN	OMIM:607417
HP:0031797	Clinical course	6907	TBL1X	OMIM:301033
HP:0031797	Clinical course	4891	SLC11A2	OMIM:206100
HP:0031797	Clinical course	56479	KCNQ5	OMIM:617601
HP:0031797	Clinical course	149461	CLDN19	OMIM:248190
HP:0031797	Clinical course	4914	NTRK1	OMIM:256800
HP:0031797	Clinical course	667	DST	OMIM:615425
HP:0031797	Clinical course	9863	MAGI2	OMIM:617609
HP:0031797	Clinical course	401138	AMTN	OMIM:617607
HP:0031797	Clinical course	3892	KRT86	OMIM:158000
HP:0031797	Clinical course	3887	KRT81	OMIM:158000
HP:0031797	Clinical course	3889	KRT83	OMIM:158000
HP:0031797	Clinical course	3889	KRT83	OMIM:617756
HP:0031797	Clinical course	11078	TRIOBP	OMIM:609823
HP:0031797	Clinical course	930	CD19	OMIM:613493
HP:0031797	Clinical course	8270	LAGE3	OMIM:301006
HP:0031797	Clinical course	55180	LINS1	OMIM:614340
HP:0031797	Clinical course	1213	CLTC	OMIM:617854
HP:0031797	Clinical course	2517	FUCA1	OMIM:230000
HP:0031797	Clinical course	3458	IFNG	OMIM:613254
HP:0031797	Clinical course	3458	IFNG	OMIM:618963
HP:0031797	Clinical course	10019	SH2B3	OMIM:254450
HP:0031797	Clinical course	811	CALR	OMIM:254450
HP:0031797	Clinical course	4352	MPL	OMIM:254450
HP:0031797	Clinical course	23040	MYT1L	OMIM:616521
HP:0031797	Clinical course	199221	DZIP1L	OMIM:617610
HP:0031797	Clinical course	64857	PLEKHG2	OMIM:616763
HP:0031797	Clinical course	189	AGXT	OMIM:259900
HP:0031797	Clinical course	80232	WDR26	OMIM:617616
HP:0031797	Clinical course	4329	ALDH6A1	OMIM:614105
HP:0031797	Clinical course	3570	IL6R	OMIM:618944
HP:0031797	Clinical course	3575	IL7R	OMIM:608971
HP:0031797	Clinical course	3060	HCRT	OMIM:161400
HP:0031797	Clinical course	162514	TRPV3	OMIM:614594
HP:0031797	Clinical course	60528	ELAC2	OMIM:615440
HP:0031797	Clinical course	2893	GRIA4	OMIM:617864
HP:0031797	Clinical course	81562	LMAN2L	OMIM:617863
HP:0031797	Clinical course	81562	LMAN2L	OMIM:616887
HP:0031797	Clinical course	51364	ZMYND10	OMIM:615444
HP:0031797	Clinical course	1605	DAG1	OMIM:616538
HP:0031797	Clinical course	5261	PHKG2	OMIM:613027
HP:0031797	Clinical course	84433	CARD11	OMIM:615206
HP:0031797	Clinical course	5873	RAB27A	OMIM:607624
HP:0031797	Clinical course	54888	NSUN2	OMIM:611091
HP:0031797	Clinical course	54802	TRIT1	OMIM:617873
HP:0031797	Clinical course	51081	MRPS7	OMIM:617872
HP:0031797	Clinical course	1537	CYC1	OMIM:615453
HP:0031797	Clinical course	9731	CEP104	OMIM:616781
HP:0031797	Clinical course	9731	CEP104	OMIM:619988
HP:0031797	Clinical course	5295	PIK3R1	OMIM:615214
HP:0031797	Clinical course	5295	PIK3R1	OMIM:616005
HP:0031797	Clinical course	4724	NDUFS4	OMIM:252010
HP:0031797	Clinical course	5449	POU1F1	OMIM:613038
HP:0031797	Clinical course	23389	MED13L	OMIM:616789
HP:0031797	Clinical course	84059	ADGRV1	OMIM:604352
HP:0031797	Clinical course	8139	GAN	OMIM:256850
HP:0031797	Clinical course	55553	SOX6	OMIM:618971
HP:0031797	Clinical course	51075	TMX2	OMIM:618730
HP:0031797	Clinical course	8884	SLC5A6	OMIM:618973
HP:0031797	Clinical course	115286	SLC25A26	OMIM:616794
HP:0031797	Clinical course	721	C4B	OMIM:614379
HP:0031797	Clinical course	10892	MALT1	OMIM:615468
HP:0031797	Clinical course	10844	TUBGCP2	OMIM:618737
HP:0031797	Clinical course	55367	PIDD1	OMIM:619827
HP:0031797	Clinical course	109	ADCY3	OMIM:617885
HP:0031797	Clinical course	7252	TSHB	OMIM:275100
HP:0031797	Clinical course	3551	IKBKB	OMIM:615592
HP:0031797	Clinical course	8367	H4C5	OMIM:619950
HP:0031797	Clinical course	8294	H4C9	OMIM:619951
HP:0031797	Clinical course	9860	LRIG2	OMIM:615112
HP:0031797	Clinical course	5723	PSPH	OMIM:614023
HP:0031797	Clinical course	9524	TECR	OMIM:614020
HP:0031797	Clinical course	2895	GRID2	OMIM:616204
HP:0031797	Clinical course	84818	IL17RC	OMIM:616445
HP:0031797	Clinical course	4860	PNP	OMIM:613179
HP:0031797	Clinical course	84942	WDR73	OMIM:251300
HP:0031797	Clinical course	9380	GRHPR	OMIM:260000
HP:0031797	Clinical course	4522	MTHFD1	OMIM:617780
HP:0031797	Clinical course	3021	H3-3B	OMIM:619721
HP:0031797	Clinical course	10026	PIGK	OMIM:618879
HP:0031797	Clinical course	51111	KMT5B	OMIM:617788
HP:0031797	Clinical course	1106	CHD2	OMIM:615369
HP:0031797	Clinical course	2670	GFAP	OMIM:203450
HP:0031797	Clinical course	65082	VPS33A	OMIM:617303
HP:0031797	Clinical course	10730	YME1L1	OMIM:617302
HP:0031797	Clinical course	10565	ARFGEF1	OMIM:619964
HP:0031797	Clinical course	8309	ACOX2	OMIM:617308
HP:0031797	Clinical course	5610	EIF2AK2	OMIM:618877
HP:0031797	Clinical course	57156	TMEM63C	OMIM:619966
HP:0031797	Clinical course	27102	EIF2AK1	OMIM:618878
HP:0031797	Clinical course	3781	KCNN2	OMIM:619725
HP:0031797	Clinical course	120227	CYP2R1	OMIM:600081
HP:0031797	Clinical course	140803	TRPM6	OMIM:602014
HP:0031797	Clinical course	10559	SLC35A1	OMIM:603585
HP:0031797	Clinical course	83696	TRAPPC9	OMIM:613192
HP:0031797	Clinical course	60561	RINT1	OMIM:618641
HP:0031797	Clinical course	129685	TAF8	OMIM:619972
HP:0031797	Clinical course	51319	RSRC1	OMIM:618402
HP:0031797	Clinical course	85365	ALG2	OMIM:616228
HP:0031797	Clinical course	85365	ALG2	OMIM:607906
HP:0031797	Clinical course	4323	MMP14	OMIM:277950
HP:0031797	Clinical course	1834	DSPP	OMIM:125420
HP:0031797	Clinical course	2688	GH1	OMIM:262400
HP:0031797	Clinical course	6712	SPTBN2	OMIM:615386
HP:0031797	Clinical course	6712	SPTBN2	OMIM:600224
HP:0031797	Clinical course	4174	MCM5	OMIM:617564
HP:0031797	Clinical course	28755	TRAC	OMIM:615387
HP:0031797	Clinical course	57178	ZMIZ1	OMIM:618659
HP:0031797	Clinical course	388962	BOLA3	OMIM:614299
HP:0031797	Clinical course	2783	GNB2	OMIM:619503
HP:0031797	Clinical course	79731	NARS2	OMIM:616239
HP:0031797	Clinical course	55623	THUMPD1	OMIM:619989
HP:0031797	Clinical course	55361	PI4K2A	OMIM:620732
HP:0031797	Clinical course	284439	SLC25A42	OMIM:618416
HP:0031797	Clinical course	112476	PRRT2	OMIM:605751
HP:0031797	Clinical course	610	HCN2	OMIM:602477
HP:0031797	Clinical course	51594	NBAS	OMIM:616483
HP:0031797	Clinical course	10043	TOM1	OMIM:619510
HP:0031797	Clinical course	85301	COL27A1	OMIM:615155
HP:0031797	Clinical course	142680	SLC34A3	OMIM:241530
HP:0031797	Clinical course	65080	MRPL44	OMIM:615395
HP:0031797	Clinical course	27089	UQCRQ	OMIM:615159
HP:0031797	Clinical course	7381	UQCRB	OMIM:615158
HP:0031797	Clinical course	59335	PRDM12	OMIM:616488
HP:0031797	Clinical course	2550	GABBR1	OMIM:620502
HP:0031797	Clinical course	23474	ETHE1	OMIM:602473
HP:0031797	Clinical course	166785	MMAA	OMIM:251100
HP:0031797	Clinical course	5551	PRF1	OMIM:603553
HP:0031797	Clinical course	8676	STX11	OMIM:603552
HP:0031797	Clinical course	7750	ZMYM2	OMIM:619522
HP:0031797	Clinical course	5971	RELB	OMIM:617585
HP:0031797	Clinical course	4849	CNOT3	OMIM:618672
HP:0031797	Clinical course	6942	TCF20	OMIM:618430
HP:0031797	Clinical course	6121	RPE65	OMIM:204100
HP:0031797	Clinical course	6621	SNAPC4	OMIM:620515
HP:0031797	Clinical course	10297	APC2	OMIM:618677
HP:0031797	Clinical course	10297	APC2	OMIM:617169
HP:0031797	Clinical course	9338	TCEAL1	OMIM:301094
HP:0031797	Clinical course	23162	MAPK8IP3	OMIM:618443
HP:0031797	Clinical course	3978	LIG1	OMIM:619774
HP:0031797	Clinical course	284098	PIGW	OMIM:616025
HP:0031797	Clinical course	2562	GABRB3	OMIM:617113
HP:0031797	Clinical course	10848	PPP1R13L	OMIM:620519
HP:0031797	Clinical course	84522	JAGN1	OMIM:616022
HP:0031797	Clinical course	388662	SLC6A17	OMIM:616269
HP:0031797	Clinical course	2678	GGT1	OMIM:231950
HP:0031797	Clinical course	5271	SERPINB8	OMIM:617115
HP:0031797	Clinical course	1107	CHD3	OMIM:618205
HP:0031797	Clinical course	387733	IFITM5	OMIM:610967
HP:0031797	Clinical course	64421	DCLRE1C	OMIM:602450
HP:0031797	Clinical course	57192	MCOLN1	OMIM:252650
HP:0031797	Clinical course	3756	KCNH1	OMIM:611816
HP:0031797	Clinical course	51311	TLR8	OMIM:301078
HP:0031797	Clinical course	258	AMBN	OMIM:616270
HP:0031797	Clinical course	2000	ELF4	OMIM:301074
HP:0031797	Clinical course	81704	DOCK8	OMIM:243700
HP:0031797	Clinical course	27077	B9D1	OMIM:617120
HP:0031797	Clinical course	133686	NADK2	OMIM:616034
HP:0031797	Clinical course	6730	SRP68	OMIM:620534
HP:0031797	Clinical course	6857	SYT1	OMIM:618218
HP:0031797	Clinical course	6778	STAT6	OMIM:620532
HP:0031797	Clinical course	140679	SLC32A1	OMIM:620774
HP:0031797	Clinical course	9900	SV2A	OMIM:620772
HP:0031797	Clinical course	10456	HAX1	OMIM:610738
HP:0031797	Clinical course	4723	NDUFV1	OMIM:618225
HP:0031797	Clinical course	30000	TNPO2	OMIM:619556
HP:0031797	Clinical course	79705	LRRK1	OMIM:615198
HP:0031797	Clinical course	51728	POLR3K	OMIM:619310
HP:0031797	Clinical course	83548	COG3	OMIM:620546
HP:0031797	Clinical course	55628	ZNF407	OMIM:619557
HP:0031797	Clinical course	51412	ACTL6B	OMIM:618470
HP:0031797	Clinical course	1536	CYBB	OMIM:300645
HP:0031797	Clinical course	831	CAST	OMIM:616295
HP:0031797	Clinical course	51103	NDUFAF1	OMIM:618234
HP:0031797	Clinical course	79868	ALG13	OMIM:300884
HP:0031797	Clinical course	6651	SON	OMIM:617140
HP:0031797	Clinical course	51601	LIPT1	OMIM:616299
HP:0031797	Clinical course	22861	NLRP1	OMIM:617388
HP:0031797	Clinical course	23030	KDM4B	OMIM:619320
HP:0031797	Clinical course	8893	EIF2B5	OMIM:620315
HP:0031797	Clinical course	157922	CAMSAP1	OMIM:620316
HP:0031797	Clinical course	137682	NDUFAF6	OMIM:618239
HP:0031797	Clinical course	5010	CLDN11	OMIM:619328
HP:0031797	Clinical course	9622	KLK4	OMIM:204700
HP:0031797	Clinical course	81858	SHARPIN	OMIM:620795
HP:0031797	Clinical course	9126	SMC3	OMIM:610759
HP:0031797	Clinical course	79944	L2HGDH	OMIM:236792
HP:0031797	Clinical course	10166	SLC25A15	OMIM:238970
HP:0031797	Clinical course	1725	DHPS	OMIM:618480
HP:0031797	Clinical course	3192	HNRNPU	OMIM:617391
HP:0031797	Clinical course	56915	EXOSC5	OMIM:619576
HP:0031797	Clinical course	79955	PDZD7	OMIM:618003
HP:0031797	Clinical course	22796	COG2	OMIM:617395
HP:0031797	Clinical course	2560	GABRB1	OMIM:617153
HP:0031797	Clinical course	112939	NACC1	OMIM:617393
HP:0031797	Clinical course	2707	GJB3	OMIM:133200
HP:0031797	Clinical course	3394	IRF8	OMIM:226990
HP:0031797	Clinical course	123263	MTFMT	OMIM:618248
HP:0031797	Clinical course	51079	NDUFA13	OMIM:618249
HP:0031797	Clinical course	84188	FAR1	OMIM:619338
HP:0031797	Clinical course	10157	AASS	OMIM:238700
HP:0031797	Clinical course	3158	HMGCS2	OMIM:605911
HP:0031797	Clinical course	80324	PUS1	OMIM:600462
HP:0031797	Clinical course	1781	DYNC1I2	OMIM:618492
HP:0031797	Clinical course	7319	UBE2A	OMIM:300860
HP:0031797	Clinical course	774	CACNA1B	OMIM:618497
HP:0031797	Clinical course	26175	LYSET	OMIM:619345
HP:0031797	Clinical course	1053	CEBPE	OMIM:245480
HP:0031797	Clinical course	10845	CLPX	OMIM:618015
HP:0031797	Clinical course	23522	KAT6B	OMIM:603736
HP:0031797	Clinical course	9451	EIF2AK3	OMIM:226980
HP:0031797	Clinical course	51300	TIMMDC1	OMIM:618251
HP:0031797	Clinical course	54681	P4HTM	OMIM:618493
HP:0031797	Clinical course	4714	NDUFB8	OMIM:618252
HP:0031797	Clinical course	4126	MANBA	OMIM:248510
HP:0031797	Clinical course	26040	SETBP1	OMIM:616078
HP:0031797	Clinical course	3560	IL2RB	OMIM:618495
HP:0031797	Clinical course	8635	RNASET2	OMIM:612951
HP:0031797	Clinical course	91039	DPP9	OMIM:620331
HP:0031797	Clinical course	6697	SPR	OMIM:612716
HP:0031797	Clinical course	64864	RFX7	OMIM:620330
HP:0031797	Clinical course	2628	GATM	OMIM:612718
HP:0031797	Clinical course	164781	DAW1	OMIM:620570
HP:0031797	Clinical course	10771	ZMYND11	OMIM:616083
HP:0031797	Clinical course	11340	EXOSC8	OMIM:616081
HP:0031797	Clinical course	65018	PINK1	OMIM:605909
HP:0031797	Clinical course	139411	PTCHD1	OMIM:300830
HP:0031797	Clinical course	5977	DPF2	OMIM:618027
HP:0031797	Clinical course	10681	GNB5	OMIM:617173
HP:0031797	Clinical course	10681	GNB5	OMIM:617182
HP:0031797	Clinical course	10847	SRCAP	OMIM:619595
HP:0031797	Clinical course	10847	SRCAP	OMIM:136140
HP:0031797	Clinical course	51091	SEPSECS	OMIM:613811
HP:0031797	Clinical course	538	ATP7A	OMIM:309400
HP:0031797	Clinical course	55210	ATAD3A	OMIM:617183
HP:0031797	Clinical course	128240	NAXE	OMIM:617186
HP:0031797	Clinical course	54790	TET2	OMIM:619126
HP:0031797	Clinical course	10651	MTX2	OMIM:619127
HP:0031797	Clinical course	285	ANGPT2	OMIM:619369
HP:0031797	Clinical course	6566	SLC16A1	OMIM:616095
HP:0031797	Clinical course	22983	MAST1	OMIM:618273
HP:0031797	Clinical course	79143	MBOAT7	OMIM:617188
HP:0031797	Clinical course	226	ALDOA	OMIM:611881
HP:0031797	Clinical course	23031	MAST3	OMIM:620115
HP:0031797	Clinical course	2593	GAMT	OMIM:612736
HP:0031797	Clinical course	4322	MMP13	OMIM:250400
HP:0031797	Clinical course	1406	CRX	OMIM:613829
HP:0031797	Clinical course	6571	SLC18A2	OMIM:618049
HP:0031797	Clinical course	4935	GPR143	OMIM:300814
HP:0031797	Clinical course	23154	NCDN	OMIM:619373
HP:0031797	Clinical course	4938	OAS1	OMIM:618042
HP:0031797	Clinical course	57152	SLURP1	OMIM:248300
HP:0031797	Clinical course	9487	PIGL	OMIM:280000
HP:0031797	Clinical course	23418	CRB1	OMIM:613835
HP:0031797	Clinical course	10295	BCKDK	OMIM:614923
HP:0031797	Clinical course	124454	EARS2	OMIM:614924
HP:0031797	Clinical course	1795	DOCK3	OMIM:618292
HP:0031797	Clinical course	5965	RECQL	OMIM:620370
HP:0031797	Clinical course	6850	SYK	OMIM:619381
HP:0031797	Clinical course	5257	PHKB	OMIM:261750
HP:0031797	Clinical course	9423	NTN1	OMIM:157600
HP:0031797	Clinical course	1604	CD55	OMIM:226300
HP:0031797	Clinical course	27072	VPS41	OMIM:619389
HP:0031797	Clinical course	27161	AGO2	OMIM:619149
HP:0031797	Clinical course	87178	PNPT1	OMIM:614932
HP:0031797	Clinical course	10535	RNASEH2A	OMIM:610333
HP:0031797	Clinical course	267	AMFR	OMIM:620379
HP:0031797	Clinical course	90523	MLIP	OMIM:620138
HP:0031797	Clinical course	54938	SARS2	OMIM:613845
HP:0031797	Clinical course	64858	DCLRE1B	OMIM:620133
HP:0031797	Clinical course	26275	HIBCH	OMIM:250620
HP:0031797	Clinical course	121340	SP7	OMIM:613849
HP:0031797	Clinical course	1534	CYB561	OMIM:618182
HP:0031797	Clinical course	4702	NDUFA8	OMIM:619272
HP:0031797	Clinical course	199857	ALG14	OMIM:619031
HP:0031797	Clinical course	81555	YIPF5	OMIM:619278
HP:0031797	Clinical course	90268	OTULIN	OMIM:617099
HP:0031797	Clinical course	4574	MT-TS1	OMIM:220110
HP:0031797	Clinical course	4570	MT-TN	OMIM:220110
HP:0031797	Clinical course	6834	SURF1	OMIM:220110
HP:0031797	Clinical course	80821	DDHD1	OMIM:609340
HP:0031797	Clinical course	4774	NFIA	OMIM:613735
HP:0031797	Clinical course	1119	CHKA	OMIM:620023
HP:0031797	Clinical course	118987	PDZD8	OMIM:620021
HP:0031797	Clinical course	5293	PIK3CD	OMIM:619281
HP:0031797	Clinical course	3073	HEXA	OMIM:272800
HP:0031797	Clinical course	4983	OPHN1	OMIM:300486
HP:0031797	Clinical course	5176	SERPINF1	OMIM:613982
HP:0031797	Clinical course	3543	IGLL1	OMIM:613500
HP:0031797	Clinical course	2911	GRM1	OMIM:614831
HP:0031797	Clinical course	6507	SLC1A3	OMIM:612656
HP:0031797	Clinical course	29760	BLNK	OMIM:613502
HP:0031797	Clinical course	63908	NAPB	OMIM:620033
HP:0031797	Clinical course	2533	FYB1	OMIM:273900
HP:0031797	Clinical course	8647	ABCB11	OMIM:601847
HP:0031797	Clinical course	2892	GRIA3	OMIM:300699
HP:0031797	Clinical course	100131801	PET100	OMIM:619055
HP:0031797	Clinical course	9739	SETD1A	OMIM:619056
HP:0031797	Clinical course	191	AHCY	OMIM:613752
HP:0031797	Clinical course	686	BTD	OMIM:253260
HP:0031797	Clinical course	36	ACADSB	OMIM:610006
HP:0031797	Clinical course	5896	RAG1	OMIM:233650
HP:0031797	Clinical course	5897	RAG2	OMIM:233650
HP:0031797	Clinical course	10716	TBR1	OMIM:606053
HP:0031797	Clinical course	26523	AGO1	OMIM:620292
HP:0031797	Clinical course	4591	TRIM37	OMIM:253250
HP:0031797	Clinical course	124512	METTL23	OMIM:615942
HP:0031797	Clinical course	2214	FCGR3A	OMIM:615707
HP:0031797	Clinical course	1991	ELANE	OMIM:202700
HP:0031797	Clinical course	1802	DPH2	OMIM:620062
HP:0031797	Clinical course	443	ASPA	OMIM:271900
HP:0031797	Clinical course	6792	CDKL5	OMIM:300672
HP:0031797	Clinical course	3028	HSD17B10	OMIM:300438
HP:0031797	Clinical course	10290	SPEG	OMIM:615959
HP:0031797	Clinical course	5978	REST	OMIM:616806
HP:0031797	Clinical course	6789	STK4	OMIM:614868
HP:0031797	Clinical course	93210	PGAP3	OMIM:615716
HP:0031797	Clinical course	5700	PSMC1	OMIM:620071
HP:0031797	Clinical course	728294	D2HGDH	OMIM:600721
HP:0031797	Clinical course	9095	TBX19	OMIM:201400
HP:0031797	Clinical course	974	CD79B	OMIM:612692
HP:0031797	Clinical course	9568	GABBR2	OMIM:617903
HP:0031797	Clinical course	9568	GABBR2	OMIM:617904
HP:0031797	Clinical course	5591	PRKDC	OMIM:615966
HP:0031797	Clinical course	5336	PLCG2	OMIM:614878
HP:0031797	Clinical course	5336	PLCG2	OMIM:614468
HP:0031797	Clinical course	1811	SLC26A3	OMIM:214700
HP:0031797	Clinical course	9342	SNAP29	OMIM:609528
HP:0031797	Clinical course	9147	NEMF	OMIM:619099
HP:0031797	Clinical course	282809	POC1B	OMIM:615973
HP:0031797	Clinical course	57654	UVSSA	OMIM:614640
HP:0031797	Clinical course	50628	GEMIN4	OMIM:617913
HP:0031797	Clinical course	2056	EPO	OMIM:617911
HP:0031797	Clinical course	147007	TMEM199	OMIM:616829
HP:0031797	Clinical course	84317	CCDC115	OMIM:616828
HP:0031797	Clinical course	3954	LETM1	OMIM:620089
HP:0031797	Clinical course	1487	CTBP1	OMIM:617915
HP:0031797	Clinical course	506	ATP5F1B	OMIM:620085
HP:0031797	Clinical course	4313	MMP2	OMIM:259600
HP:0031797	Clinical course	92154	MTSS2	OMIM:620086
HP:0031797	Clinical course	23636	NUP62	OMIM:271930
HP:0031797	Clinical course	51004	COQ6	OMIM:614650
HP:0031797	Clinical course	93183	PIGM	OMIM:610293
HP:0031797	Clinical course	3593	IL12B	OMIM:614890
HP:0031797	Clinical course	867	CBL	OMIM:613563
HP:0031797	Clinical course	85478	CCDC65	OMIM:615504
HP:0031797	Clinical course	284119	CAVIN1	OMIM:613327
HP:0031797	Clinical course	2554	GABRA1	OMIM:615744
HP:0031797	Clinical course	137492	VPS37A	OMIM:614898
HP:0031797	Clinical course	10695	CNPY3	OMIM:617929
HP:0031797	Clinical course	57716	PRX	OMIM:145900
HP:0031797	Clinical course	1738	DLD	OMIM:246900
HP:0031797	Clinical course	3932	LCK	OMIM:615758
HP:0031797	Clinical course	53616	ADAM22	OMIM:617933
HP:0031797	Clinical course	4803	NGF	OMIM:608654
HP:0031797	Clinical course	27249	MMADHC	OMIM:277410
HP:0031797	Clinical course	411	ARSB	OMIM:253200
HP:0031797	Clinical course	57526	PCDH19	OMIM:300088
HP:0031797	Clinical course	55209	SETD5	OMIM:615761
HP:0031797	Clinical course	6813	STXBP2	OMIM:613101
HP:0031797	Clinical course	79631	EFL1	OMIM:617941
HP:0031797	Clinical course	7280	TUBB2A	OMIM:615763
HP:0031797	Clinical course	5429	POLH	OMIM:278750
HP:0031797	Clinical course	1825	DSC3	OMIM:613102
HP:0031797	Clinical course	56997	COQ8A	OMIM:612016
HP:0031797	Clinical course	91869	RFT1	OMIM:612015
HP:0031797	Clinical course	59067	IL21	OMIM:615767
HP:0031797	Clinical course	6301	SARS1	OMIM:617709
HP:0031797	Clinical course	1644	DDC	OMIM:608643
HP:0031797	Clinical course	26224	FBXL3	OMIM:606220
HP:0031797	Clinical course	51116	MRPS2	OMIM:617950
HP:0031797	Clinical course	6097	RORC	OMIM:616622
HP:0031797	Clinical course	51206	GP6	OMIM:614201
HP:0031797	Clinical course	10095	ARPC1B	OMIM:617718
HP:0031797	Clinical course	9056	SLC7A7	OMIM:222700
HP:0031797	Clinical course	3791	KDR	OMIM:602089
HP:0031797	Clinical course	84168	ANTXR1	OMIM:602089
HP:0031797	Clinical course	1641	DCX	OMIM:300067
HP:0031797	Clinical course	84342	COG8	OMIM:611182
HP:0031797	Clinical course	80185	TTI2	OMIM:615541
HP:0031797	Clinical course	55780	ERMARD	OMIM:615544
HP:0031797	Clinical course	128989	TANGO2	OMIM:616878
HP:0031797	Clinical course	6773	STAT2	OMIM:616636
HP:0031797	Clinical course	27010	TPK1	OMIM:614458
HP:0031797	Clinical course	7074	TIAM1	OMIM:619908
HP:0031797	Clinical course	51128	SAR1B	OMIM:246700
HP:0031797	Clinical course	51501	HIKESHI	OMIM:616881
HP:0031797	Clinical course	57468	SLC12A5	OMIM:616645
HP:0031797	Clinical course	10815	CPLX1	OMIM:617976
HP:0031797	Clinical course	2588	GALNS	OMIM:253000
HP:0031797	Clinical course	3704	ITPA	OMIM:616647
HP:0031797	Clinical course	5205	ATP8B1	OMIM:211600
HP:0031797	Clinical course	338	APOB	OMIM:615558
HP:0031797	Clinical course	23209	MLC1	OMIM:604004
HP:0031797	Clinical course	368	ABCC6	OMIM:614473
HP:0031797	Clinical course	5788	PTPRC	OMIM:619924
HP:0031797	Clinical course	4780	NFE2L2	OMIM:617744
HP:0031797	Clinical course	23310	NCAPD3	OMIM:617984
HP:0031797	Clinical course	2890	GRIA1	OMIM:619927
HP:0031797	Clinical course	2890	GRIA1	OMIM:619931
HP:0031797	Clinical course	2741	GLRA1	OMIM:149400
HP:0031797	Clinical course	54805	CNNM2	OMIM:616418
HP:0031797	Clinical course	6509	SLC1A4	OMIM:616657
HP:0031797	Clinical course	54676	GTPBP2	OMIM:617988
HP:0031797	Clinical course	1736	DKC1	OMIM:301108
HP:0031797	Clinical course	2819	GPD1	OMIM:614480
HP:0031797	Clinical course	374462	PTPRQ	OMIM:613391
HP:0031797	Clinical course	55023	PHIP	OMIM:617991
HP:0031797	Clinical course	84631	SLITRK2	OMIM:301107
HP:0031797	Clinical course	3454	IFNAR1	OMIM:619935
HP:0031797	Clinical course	6915	TBXA2R	OMIM:614009
HP:0031797	Clinical course	9203	ZMYM3	OMIM:301111
HP:0031797	Clinical course	29071	C1GALT1C1	OMIM:301110
HP:0031797	Clinical course	51733	UPB1	OMIM:613161
HP:0031797	Clinical course	101929726	MYMX	OMIM:619941
HP:0031797	Clinical course	23404	EXOSC2	OMIM:617763
HP:0031797	Clinical course	28985	MCTS1	OMIM:301115
HP:0031797	Clinical course	8803	SUCLA2	OMIM:612073
HP:0031797	Clinical course	79587	CARS2	OMIM:616672
HP:0031797	Clinical course	96459	FNIP1	OMIM:619705
HP:0031797	Clinical course	126792	B3GALT6	OMIM:615349
HP:0031797	Clinical course	58499	ZNF462	OMIM:618619
HP:0031797	Clinical course	8328	GFI1B	OMIM:187900
HP:0031797	Clinical course	4292	MLH1	OMIM:158320
HP:0031797	Clinical course	4436	MSH2	OMIM:158320
HP:0031797	Clinical course	5165	PDK3	OMIM:300905
HP:0031797	Clinical course	5894	RAF1	OMIM:615916
HP:0031797	Clinical course	3759	KCNJ2	OMIM:613980
HP:0031797	Clinical course	55034	MOCOS	OMIM:603592
HP:0031797	Clinical course	9211	LGI1	OMIM:600512
HP:0031797	Clinical course	5649	RELN	OMIM:600512
HP:0031797	Clinical course	64780	MICAL1	OMIM:600512
HP:0031797	Clinical course	64601	VPS16	OMIM:619291
HP:0031797	Clinical course	57449	PLEKHG5	OMIM:615376
HP:0031797	Clinical course	4901	NRL	OMIM:613750
HP:0031797	Clinical course	2702	GJA5	OMIM:614049
HP:0031797	Clinical course	6324	SCN1B	OMIM:615377
HP:0031797	Clinical course	6327	SCN2B	OMIM:615378
HP:0031797	Clinical course	9149	DYRK1B	OMIM:615812
HP:0031797	Clinical course	5350	PLN	OMIM:613874
HP:0031797	Clinical course	129607	CMPK2	OMIM:621018
HP:0031797	Clinical course	80201	HKDC1	OMIM:619614
HP:0031797	Clinical course	29967	LRP12	OMIM:164310
HP:0031797	Clinical course	29967	LRP12	OMIM:620452
HP:0031797	Clinical course	659	BMPR2	OMIM:178600
HP:0031797	Clinical course	5442	POLRMT	OMIM:619743
HP:0031797	Clinical course	9517	SPTLC2	OMIM:613640
HP:0031797	Clinical course	1600	DAB1	OMIM:615945
HP:0031797	Clinical course	9096	TBX18	OMIM:143400
HP:0031797	Clinical course	4117	MAK	OMIM:614181
HP:0031797	Clinical course	5255	PHKA1	OMIM:300559
HP:0031797	Clinical course	54902	TTC19	OMIM:615157
HP:0031797	Clinical course	4878	NPPA	OMIM:612201
HP:0031797	Clinical course	57863	CADM3	OMIM:619519
HP:0031797	Clinical course	7139	TNNT2	OMIM:115195
HP:0031797	Clinical course	7139	TNNT2	OMIM:601494
HP:0031797	Clinical course	60481	ELOVL5	OMIM:615957
HP:0031797	Clinical course	79719	AAGAB	OMIM:148600
HP:0031797	Clinical course	23095	KIF1B	OMIM:118210
HP:0031797	Clinical course	4437	MSH3	OMIM:617100
HP:0031797	Clinical course	11149	POPDC1	OMIM:616812
HP:0031797	Clinical course	6240	RRM1	OMIM:620647
HP:0031797	Clinical course	344658	SAMD7	OMIM:620762
HP:0031797	Clinical course	23676	SMPX	OMIM:301075
HP:0031797	Clinical course	9217	VAPB	OMIM:182980
HP:0031797	Clinical course	9217	VAPB	OMIM:608627
HP:0031797	Clinical course	59345	GNB4	OMIM:615185
HP:0031797	Clinical course	23093	TTLL5	OMIM:615860
HP:0031797	Clinical course	4069	LYZ	OMIM:620658
HP:0031797	Clinical course	335	APOA1	OMIM:620657
HP:0031797	Clinical course	8729	GBF1	OMIM:606483
HP:0031797	Clinical course	3741	KCNA5	OMIM:612240
HP:0031797	Clinical course	7555	CNBP	OMIM:602668
HP:0031797	Clinical course	256471	MFSD8	OMIM:616170
HP:0031797	Clinical course	3748	KCNC3	OMIM:605259
HP:0031797	Clinical course	440193	CCDC88C	OMIM:616053
HP:0031797	Clinical course	25814	ATXN10	OMIM:603516
HP:0031797	Clinical course	57798	GATAD1	OMIM:614672
HP:0031797	Clinical course	440275	EIF2AK4	OMIM:234810
HP:0031797	Clinical course	324	APC	OMIM:135290
HP:0031797	Clinical course	54471	MIEF1	OMIM:620550
HP:0031797	Clinical course	343641	TGM6	OMIM:613908
HP:0031797	Clinical course	5071	PRKN	OMIM:600116
HP:0031797	Clinical course	1181	CLCN2	OMIM:615651
HP:0031797	Clinical course	8622	PDE8B	OMIM:609161
HP:0031797	Clinical course	11080	DNAJB4	OMIM:620326
HP:0031797	Clinical course	1000	CDH2	OMIM:618920
HP:0031797	Clinical course	5837	PYGM	OMIM:232600
HP:0031797	Clinical course	100134444	KCNJ18	OMIM:613239
HP:0031797	Clinical course	55975	KLHL7	OMIM:612943
HP:0031797	Clinical course	116442	RAB39B	OMIM:311510
HP:0031797	Clinical course	2632	GBE1	OMIM:263570
HP:0031797	Clinical course	9445	ITM2B	OMIM:616079
HP:0031797	Clinical course	55800	SCN3B	OMIM:613120
HP:0031797	Clinical course	3178	HNRNPA1	OMIM:615424
HP:0031797	Clinical course	26060	APPL1	OMIM:616511
HP:0031797	Clinical course	10320	IKZF1	OMIM:616873
HP:0031797	Clinical course	2224	FDPS	OMIM:616631
HP:0031797	Clinical course	81790	RNF170	OMIM:608984
HP:0031797	Clinical course	57338	JPH3	OMIM:606438
HP:0031797	Clinical course	1816	DRD5	OMIM:606798
HP:0031797	Clinical course	55791	LRIF1	OMIM:619477
HP:0031797	Clinical course	84839	RAX2	OMIM:620102
HP:0031797	Clinical course	9094	UNC119	OMIM:620342
HP:0031797	Clinical course	672	BRCA1	OMIM:604370
HP:0031797	Clinical course	1495	CTNNA1	OMIM:608970
HP:0031797	Clinical course	3827	KNG1	OMIM:619363
HP:0031797	Clinical course	219285	SAMD9L	OMIM:619806
HP:0031797	Clinical course	3710	ITPR3	OMIM:620111
HP:0031797	Clinical course	10137	RBM12	OMIM:617629
HP:0031797	Clinical course	9516	LITAF	OMIM:601098
HP:0031797	Clinical course	4131	MAP1B	OMIM:619808
HP:0031797	Clinical course	25978	CHMP2B	OMIM:600795
HP:0031797	Clinical course	6389	SDHA	OMIM:619259
HP:0031797	Clinical course	8651	SOCS1	OMIM:619375
HP:0031797	Clinical course	138050	HGSNAT	OMIM:616544
HP:0031797	Clinical course	7716	VEZF1	OMIM:620247
HP:0031797	Clinical course	92345	NAF1	OMIM:620365
HP:0031797	Clinical course	6609	SMPD1	OMIM:607616
HP:0031797	Clinical course	6103	RPGR	OMIM:300029
HP:0031797	Clinical course	4747	NEFL	OMIM:617882
HP:0031797	Clinical course	6892	TAPBP	OMIM:620814
HP:0031797	Clinical course	2196	FAT2	OMIM:617769
HP:0031797	Clinical course	3156	HMGCR	OMIM:620375
HP:0031797	Clinical course	55129	ANO10	OMIM:613728
HP:0031797	Clinical course	64170	CARD9	OMIM:212050
HP:0031797	Clinical course	63924	CIDEC	OMIM:615238
HP:0031797	Clinical course	7068	THRB	OMIM:274300
HP:0031797	Clinical course	27022	FOXD3	OMIM:607836
HP:0031797	Clinical course	81846	SBF2	OMIM:604563
HP:0031797	Clinical course	6772	STAT1	OMIM:614162
HP:0031797	Clinical course	6772	STAT1	OMIM:614892
HP:0031797	Clinical course	567	B2M	OMIM:241600
HP:0031797	Clinical course	1201	CLN3	OMIM:204200
HP:0031797	Clinical course	950	SCARB2	OMIM:254900
HP:0031797	Clinical course	29775	CARD10	OMIM:619632
HP:0031797	Clinical course	23767	FLRT3	OMIM:615271
HP:0031797	Clinical course	5800	PTPRO	OMIM:614196
HP:0031797	Clinical course	3373	HYAL1	OMIM:601492
HP:0031797	Clinical course	2395	FXN	OMIM:229300
HP:0031797	Clinical course	2694	CBLIF	OMIM:261000
HP:0031797	Clinical course	8974	P4HA2	OMIM:617238
HP:0031797	Clinical course	1967	EIF2B1	OMIM:603896
HP:0031797	Clinical course	2055	CLN8	OMIM:600143
HP:0031797	Clinical course	23514	SPIDR	OMIM:619665
HP:0031797	Clinical course	78995	HROB	OMIM:620897
HP:0031797	Clinical course	9210	BMP15	OMIM:300510
HP:0031797	Clinical course	53371	NUP54	OMIM:620427
HP:0031797	Clinical course	23078	VWA8	OMIM:620422
HP:0031797	Clinical course	55243	KIRREL1	OMIM:619201
HP:0031797	Clinical course	745	MYRF	OMIM:618113
HP:0031797	Clinical course	60509	AGBL5	OMIM:617023
HP:0031797	Clinical course	150	ADRA2A	OMIM:620679
HP:0031797	Clinical course	254394	MCM9	OMIM:616185
HP:0031797	Clinical course	122622	ADSS1	OMIM:617030
HP:0031797	Clinical course	6530	SLC6A2	OMIM:604715
HP:0031797	Clinical course	7275	TUB	OMIM:616188
HP:0031797	Clinical course	2010	EMD	OMIM:310300
HP:0031797	Clinical course	5611	DNAJC3	OMIM:616192
HP:0031797	Clinical course	55340	GIMAP5	OMIM:619463
HP:0031797	Clinical course	10205	MPZL2	OMIM:618145
HP:0031797	Clinical course	64849	SLC13A3	OMIM:618384
HP:0031797	Clinical course	920	CD4	OMIM:619238
HP:0031797	Clinical course	10486	CAP2	OMIM:620462
HP:0031797	Clinical course	493856	CISD2	OMIM:604928
HP:0031797	Clinical course	60676	PAPPA2	OMIM:619489
HP:0031797	Clinical course	26092	TOR1AIP1	OMIM:617072
HP:0031797	Clinical course	256472	TMEM151A	OMIM:620245
HP:0031797	Clinical course	5524	PTPA	OMIM:620482
HP:0031797	Clinical course	403	ARL3	OMIM:618173
HP:0031797	Clinical course	23500	DAAM2	OMIM:619263
HP:0031797	Clinical course	25793	FBXO7	OMIM:260300
HP:0031797	Clinical course	8910	SGCE	OMIM:159900
HP:0031797	Clinical course	125170	MIEF2	OMIM:619024
HP:0031797	Clinical course	6559	SLC12A3	OMIM:263800
HP:0031797	Clinical course	6342	SCP2	OMIM:613724
HP:0031797	Clinical course	9898	UBAP2L	OMIM:620494
HP:0031797	Clinical course	130557	ZNF513	OMIM:613617
HP:0031797	Clinical course	7879	RAB7A	OMIM:600882
HP:0031797	Clinical course	843	CASP10	OMIM:603909
HP:0031797	Clinical course	79947	DHDDS	OMIM:613861
HP:0031797	Clinical course	1135	CHRNA2	OMIM:610353
HP:0031797	Clinical course	54476	RNF216	OMIM:212840
HP:0031797	Clinical course	353	APRT	OMIM:614723
HP:0031797	Clinical course	55775	TDP1	OMIM:607250
HP:0031797	Clinical course	2492	FSHR	OMIM:233300
HP:0031797	Clinical course	6399	TRAPPC2	OMIM:313400
HP:0031797	Clinical course	80216	ALPK1	OMIM:614979
HP:0031797	Clinical course	23175	LPIN1	OMIM:268200
HP:0031797	Clinical course	7234	TRU-TCA1-1	OMIM:620198
HP:0031797	Clinical course	29119	CTNNA3	OMIM:615616
HP:0031797	Clinical course	23479	ISCU	OMIM:255125
HP:0031797	Clinical course	51308	REEP2	OMIM:615625
HP:0031797	Clinical course	152137	CCDC50	OMIM:607453
HP:0031797	Clinical course	3736	KCNA1	OMIM:160120
HP:0031797	Clinical course	11133	KPTN	OMIM:615637
HP:0031797	Clinical course	6900	CNTN2	OMIM:615400
HP:0031797	Clinical course	29893	PSMC3IP	OMIM:614324
HP:0031797	Clinical course	859	CAV3	OMIM:614321
HP:0031797	Clinical course	859	CAV3	OMIM:611818
HP:0031797	Clinical course	859	CAV3	OMIM:606072
HP:0031797	Clinical course	4634	MYL3	OMIM:608751
HP:0031797	Clinical course	3868	KRT16	OMIM:613000
HP:0031797	Clinical course	7098	TLR3	OMIM:613002
HP:0031797	Clinical course	653361	NCF1	OMIM:233700
HP:0031797	Clinical course	3702	ITK	OMIM:613011
HP:0031797	Clinical course	7043	TGFB3	OMIM:107970
HP:0031797	Clinical course	11235	PDCD10	OMIM:603285
HP:0031797	Clinical course	10319	LAMC3	OMIM:614115
HP:0031797	Clinical course	3661	IRF3	OMIM:616532
HP:0031797	Clinical course	5294	PIK3CG	OMIM:619802
HP:0031797	Clinical course	114327	EFHC1	OMIM:607631
HP:0031797	Clinical course	114327	EFHC1	OMIM:254770
HP:0031797	Clinical course	1297	COL9A1	OMIM:614135
HP:0031797	Clinical course	7293	TNFRSF4	OMIM:615593
HP:0031797	Clinical course	2099	ESR1	OMIM:615363
HP:0031797	Clinical course	92840	REEP6	OMIM:617304
HP:0031797	Clinical course	1476	CSTB	OMIM:254800
HP:0031797	Clinical course	84572	GNPTG	OMIM:252605
HP:0031797	Clinical course	51083	GAL	OMIM:616461
HP:0031797	Clinical course	9364	RAB28	OMIM:615374
HP:0031797	Clinical course	6445	SGCG	OMIM:253700
HP:0031797	Clinical course	388551	CEACAM16	OMIM:618410
HP:0031797	Clinical course	388551	CEACAM16	OMIM:614614
HP:0031797	Clinical course	285025	CCDC141	OMIM:146110
HP:0031797	Clinical course	9723	SEMA3E	OMIM:146110
HP:0031797	Clinical course	10011	SRA1	OMIM:146110
HP:0031797	Clinical course	2796	GNRH1	OMIM:146110
HP:0031797	Clinical course	81848	SPRY4	OMIM:146110
HP:0031797	Clinical course	389549	FEZF1	OMIM:146110
HP:0031797	Clinical course	389549	FEZF1	OMIM:616030
HP:0031797	Clinical course	55717	WDR11	OMIM:146110
HP:0031797	Clinical course	8822	FGF17	OMIM:146110
HP:0031797	Clinical course	558	AXL	OMIM:146110
HP:0031797	Clinical course	1848	DUSP6	OMIM:146110
HP:0031797	Clinical course	2798	GNRHR	OMIM:146110
HP:0031797	Clinical course	51271	UBAP1	OMIM:618418
HP:0031797	Clinical course	4053	LTBP2	OMIM:251750
HP:0031797	Clinical course	4808	NHLH2	OMIM:619755
HP:0031797	Clinical course	51284	TLR7	OMIM:301080
HP:0031797	Clinical course	79991	STN1	OMIM:617341
HP:0031797	Clinical course	84343	HPS3	OMIM:614072
HP:0031797	Clinical course	150274	HSCB	OMIM:619523
HP:0031797	Clinical course	11261	CHP1	OMIM:618438
HP:0031797	Clinical course	79651	RHBDF2	OMIM:148500
HP:0031797	Clinical course	2591	GALNT3	OMIM:211900
HP:0031797	Clinical course	5213	PFKM	OMIM:232800
HP:0031797	Clinical course	5083	PAX9	OMIM:604625
HP:0031797	Clinical course	3980	LIG3	OMIM:619780
HP:0031797	Clinical course	10142	AKAP9	OMIM:611820
HP:0031797	Clinical course	9138	ARHGEF1	OMIM:618459
HP:0031797	Clinical course	4179	CD46	OMIM:612922
HP:0031797	Clinical course	4722	NDUFS3	OMIM:618230
HP:0031797	Clinical course	8890	EIF2B4	OMIM:620314
HP:0031797	Clinical course	3939	LDHA	OMIM:612933
HP:0031797	Clinical course	4166	CHST6	OMIM:217800
HP:0031797	Clinical course	55863	TMEM126B	OMIM:618250
HP:0031797	Clinical course	112812	FDX2	OMIM:251900
HP:0031797	Clinical course	55229	PANK4	OMIM:619593
HP:0031797	Clinical course	5375	PMP2	OMIM:618279
HP:0031797	Clinical course	8799	PEX11B	OMIM:614920
HP:0031797	Clinical course	1719	DHFR	OMIM:613839
HP:0031797	Clinical course	51778	MYOZ2	OMIM:613838
HP:0031797	Clinical course	23224	SYNE2	OMIM:612999
HP:0031797	Clinical course	2131	EXT1	OMIM:133700
HP:0031797	Clinical course	55851	PSENEN	OMIM:613736
HP:0031797	Clinical course	55651	NHP2	OMIM:613987
HP:0031797	Clinical course	84634	KISS1R	OMIM:614837
HP:0031797	Clinical course	3604	TNFRSF9	OMIM:620282
HP:0031797	Clinical course	51204	TACO1	OMIM:619052
HP:0031797	Clinical course	7827	NPHS2	OMIM:600995
HP:0031797	Clinical course	1427	CRYGS	OMIM:116100
HP:0031797	Clinical course	116228	COX20	OMIM:619054
HP:0031797	Clinical course	3814	KISS1	OMIM:614842
HP:0031797	Clinical course	10558	SPTLC1	OMIM:620285
HP:0031797	Clinical course	100303755	PET117	OMIM:619063
HP:0031797	Clinical course	283375	SLC39A5	OMIM:615946
HP:0031797	Clinical course	22953	P2RX2	OMIM:608224
HP:0031797	Clinical course	5149	PDE6H	OMIM:610024
HP:0031797	Clinical course	375748	ERCC6L2	OMIM:615715
HP:0031797	Clinical course	3208	HPCA	OMIM:224500
HP:0031797	Clinical course	7274	TTPA	OMIM:277460
HP:0031797	Clinical course	5191	PEX7	OMIM:614879
HP:0031797	Clinical course	9080	CLDN9	OMIM:619093
HP:0031797	Clinical course	5230	PGK1	OMIM:300653
HP:0031797	Clinical course	2717	GLA	OMIM:301500
HP:0031797	Clinical course	1535	CYBA	OMIM:233690
HP:0031797	Clinical course	10457	GPNMB	OMIM:617920
HP:0031797	Clinical course	113457	TUBA3D	OMIM:617928
HP:0031797	Clinical course	57094	CPA6	OMIM:614417
HP:0031797	Clinical course	1121	CHM	OMIM:303100
HP:0031797	Clinical course	631	BFSP1	OMIM:611391
HP:0031797	Clinical course	3290	HSD11B1	OMIM:614662
HP:0031797	Clinical course	1776	DNASE1L3	OMIM:614420
HP:0031797	Clinical course	10758	TRAF3IP2	OMIM:615527
HP:0031797	Clinical course	387700	SLC16A12	OMIM:612018
HP:0031797	Clinical course	6443	SGCB	OMIM:604286
HP:0031797	Clinical course	9829	DNAJC6	OMIM:615528
HP:0031797	Clinical course	102	ADAM10	OMIM:615537
HP:0031797	Clinical course	2232	FDXR	OMIM:617717
HP:0031797	Clinical course	55857	KIZ	OMIM:615780
HP:0031797	Clinical course	940	CD28	OMIM:620901
HP:0031797	Clinical course	29929	ALG6	OMIM:603147
HP:0031797	Clinical course	3920	LAMP2	OMIM:300257
HP:0031797	Clinical course	6529	SLC6A1	OMIM:616421
HP:0031797	Clinical course	5538	PPT1	OMIM:256730
HP:0031797	Clinical course	1203	CLN5	OMIM:256731
HP:0031797	Clinical course	285489	DOK7	OMIM:254300
HP:0031797	Clinical course	3689	ITGB2	OMIM:116920
HP:0031797	Clinical course	6555	SLC10A2	OMIM:613291
HP:0031797	Clinical course	26235	FBXL4	OMIM:615471
HP:0031797	Clinical course	4099	MAG	OMIM:616680
HP:0031797	Clinical course	51399	TRAPPC4	OMIM:618741
HP:0031797	Clinical course	57128	LYRM4	OMIM:615595
HP:0031797	Clinical course	343450	KCNT2	OMIM:617771
HP:0031797	Clinical course	2775	GNAO1	OMIM:615473
HP:0031797	Clinical course	2775	GNAO1	OMIM:617493
HP:0031797	Clinical course	5994	RFXAP	OMIM:620817
HP:0031797	Clinical course	51126	NAA20	OMIM:619717
HP:0031797	Clinical course	1144	CHRND	OMIM:616323
HP:0031797	Clinical course	10059	DNM1L	OMIM:614388
HP:0031797	Clinical course	1355	COX15	OMIM:615119
HP:0031797	Clinical course	9254	CACNA2D2	OMIM:618501
HP:0031797	Clinical course	5361	PLXNA1	OMIM:619955
HP:0031797	Clinical course	3703	STT3A	OMIM:619714
HP:0031797	Clinical course	4552	MTRR	OMIM:236270
HP:0031797	Clinical course	7259	TSPYL1	OMIM:608800
HP:0031797	Clinical course	6729	SRP54	OMIM:618752
HP:0031797	Clinical course	65993	MRPS34	OMIM:617664
HP:0031797	Clinical course	396	ARHGDIA	OMIM:615244
HP:0031797	Clinical course	51741	WWOX	OMIM:616211
HP:0031797	Clinical course	4141	MARS1	OMIM:615486
HP:0031797	Clinical course	387787	LIPT2	OMIM:617668
HP:0031797	Clinical course	477	ATP1A2	OMIM:619605
HP:0031797	Clinical course	9200	HACD1	OMIM:619967
HP:0031797	Clinical course	5189	PEX1	OMIM:214100
HP:0031797	Clinical course	535	ATP6V0A1	OMIM:619971
HP:0031797	Clinical course	55687	TRMU	OMIM:613070
HP:0031797	Clinical course	23250	ATP11A	OMIM:619851
HP:0031797	Clinical course	9698	PUM1	OMIM:620719
HP:0031797	Clinical course	103	ADAR	OMIM:615010
HP:0031797	Clinical course	130589	GALM	OMIM:618881
HP:0031797	Clinical course	79797	ZNF408	OMIM:616468
HP:0031797	Clinical course	10352	WARS2	OMIM:619738
HP:0031797	Clinical course	6573	SLC19A1	OMIM:620603
HP:0031797	Clinical course	7920	ABHD16A	OMIM:619735
HP:0031797	Clinical course	85465	SELENOI	OMIM:618768
HP:0031797	Clinical course	157680	VPS13B	OMIM:216550
HP:0031797	Clinical course	1716	DGUOK	OMIM:251880
HP:0031797	Clinical course	84504	NKX6-2	OMIM:617560
HP:0031797	Clinical course	283987	HID1	OMIM:619983
HP:0031797	Clinical course	1303	COL12A1	OMIM:616470
HP:0031797	Clinical course	64121	RRAGC	OMIM:620609
HP:0031797	Clinical course	57231	SNX14	OMIM:616354
HP:0031797	Clinical course	790955	UQCC3	OMIM:616111
HP:0031797	Clinical course	253738	EBF3	OMIM:617330
HP:0031797	Clinical course	11154	AP4S1	OMIM:614067
HP:0031797	Clinical course	152110	NEK10	OMIM:618781
HP:0031797	Clinical course	3769	KCNJ13	OMIM:614186
HP:0031797	Clinical course	805	CALM2	OMIM:616249
HP:0031797	Clinical course	1182	CLCN3	OMIM:619517
HP:0031797	Clinical course	801	CALM1	OMIM:616247
HP:0031797	Clinical course	1660	DHX9	OMIM:620988
HP:0031797	Clinical course	2592	GALT	OMIM:230400
HP:0031797	Clinical course	7701	ZNF142	OMIM:618425
HP:0031797	Clinical course	8021	NUP214	OMIM:618426
HP:0031797	Clinical course	2643	GCH1	OMIM:233910
HP:0031797	Clinical course	4191	MDH2	OMIM:617339
HP:0031797	Clinical course	6523	SLC5A1	OMIM:606824
HP:0031797	Clinical course	11234	HPS5	OMIM:614074
HP:0031797	Clinical course	11311	VPS45	OMIM:615285
HP:0031797	Clinical course	10991	SLC38A3	OMIM:619881
HP:0031797	Clinical course	6506	SLC1A2	OMIM:617105
HP:0031797	Clinical course	55072	RNF31	OMIM:620632
HP:0031797	Clinical course	9562	MINPP1	OMIM:619527
HP:0031797	Clinical course	487	ATP2A1	OMIM:601003
HP:0031797	Clinical course	92749	DRC1	OMIM:615294
HP:0031797	Clinical course	6843	VAMP1	OMIM:618323
HP:0031797	Clinical course	54941	RNF125	OMIM:616260
HP:0031797	Clinical course	326	AIRE	OMIM:240300
HP:0031797	Clinical course	51227	PIGP	OMIM:617599
HP:0031797	Clinical course	3172	HNF4A	OMIM:616026
HP:0031797	Clinical course	54148	MRPL39	OMIM:620646
HP:0031797	Clinical course	54532	USP53	OMIM:619658
HP:0031797	Clinical course	1585	CYP11B2	OMIM:610600
HP:0031797	Clinical course	1585	CYP11B2	OMIM:203400
HP:0031797	Clinical course	79645	CLXN	OMIM:620642
HP:0031797	Clinical course	6595	SMARCA2	OMIM:601358
HP:0031797	Clinical course	27247	NFU1	OMIM:605711
HP:0031797	Clinical course	345643	MCIDAS	OMIM:618695
HP:0031797	Clinical course	93233	ODAD1	OMIM:615067
HP:0031797	Clinical course	55151	TMEM38B	OMIM:615066
HP:0031797	Clinical course	113220	KIF12	OMIM:619662
HP:0031797	Clinical course	27133	KCNH5	OMIM:620537
HP:0031797	Clinical course	27429	HTRA2	OMIM:617248
HP:0031797	Clinical course	5813	PURA	OMIM:616158
HP:0031797	Clinical course	5910	RAP1GDS1	OMIM:620655
HP:0031797	Clinical course	2582	GALE	OMIM:620776
HP:0031797	Clinical course	3242	HPD	OMIM:276710
HP:0031797	Clinical course	8905	AP1S2	OMIM:304340
HP:0031797	Clinical course	139212	DNAAF6	OMIM:300991
HP:0031797	Clinical course	695	BTK	OMIM:300755
HP:0031797	Clinical course	4728	NDUFS8	OMIM:618222
HP:0031797	Clinical course	1499	CTNNB1	OMIM:615075
HP:0031797	Clinical course	1441	CSF3R	OMIM:617014
HP:0031797	Clinical course	10765	KDM5B	OMIM:618109
HP:0031797	Clinical course	359	AQP2	OMIM:125800
HP:0031797	Clinical course	54973	INTS11	OMIM:620428
HP:0031797	Clinical course	4719	NDUFS1	OMIM:618226
HP:0031797	Clinical course	55746	NUP133	OMIM:618349
HP:0031797	Clinical course	4720	NDUFS2	OMIM:618228
HP:0031797	Clinical course	9526	MPDU1	OMIM:609180
HP:0031797	Clinical course	4729	NDUFV2	OMIM:618229
HP:0031797	Clinical course	8737	RIPK1	OMIM:618108
HP:0031797	Clinical course	3032	HADHB	OMIM:620300
HP:0031797	Clinical course	3786	KCNQ3	OMIM:121201
HP:0031797	Clinical course	10102	TSFM	OMIM:610505
HP:0031797	Clinical course	3785	KCNQ2	OMIM:121200
HP:0031797	Clinical course	3785	KCNQ2	OMIM:613720
HP:0031797	Clinical course	128869	PIGU	OMIM:618590
HP:0031797	Clinical course	58484	NLRC4	OMIM:616050
HP:0031797	Clinical course	5515	PPP2CA	OMIM:618354
HP:0031797	Clinical course	55610	VPS50	OMIM:619685
HP:0031797	Clinical course	6514	SLC2A2	OMIM:227810
HP:0031797	Clinical course	23114	NFASC	OMIM:618356
HP:0031797	Clinical course	4695	NDUFA2	OMIM:618235
HP:0031797	Clinical course	3561	IL2RG	OMIM:300400
HP:0031797	Clinical course	126328	NDUFA11	OMIM:618236
HP:0031797	Clinical course	6809	STX3	OMIM:619446
HP:0031797	Clinical course	8867	SYNJ1	OMIM:617389
HP:0031797	Clinical course	10659	CELF2	OMIM:619561
HP:0031797	Clinical course	3745	KCNB1	OMIM:616056
HP:0031797	Clinical course	4726	NDUFS6	OMIM:618232
HP:0031797	Clinical course	6833	ABCC8	OMIM:240800
HP:0031797	Clinical course	1130	LYST	OMIM:214500
HP:0031797	Clinical course	5698	PSMB9	OMIM:620796
HP:0031797	Clinical course	8869	ST3GAL5	OMIM:609056
HP:0031797	Clinical course	161725	OTUD7A	OMIM:620790
HP:0031797	Clinical course	5934	RBL2	OMIM:619690
HP:0031797	Clinical course	4784	NFIX	OMIM:602535
HP:0031797	Clinical course	4784	NFIX	OMIM:614753
HP:0031797	Clinical course	3938	LCT	OMIM:223000
HP:0031797	Clinical course	23221	RHOBTB2	OMIM:618004
HP:0031797	Clinical course	4704	NDUFA9	OMIM:618247
HP:0031797	Clinical course	537	ATP6AP1	OMIM:300972
HP:0031797	Clinical course	25915	NDUFAF3	OMIM:618240
HP:0031797	Clinical course	7922	SLC39A7	OMIM:619693
HP:0031797	Clinical course	513	ATP5F1D	OMIM:618120
HP:0031797	Clinical course	7019	TFAM	OMIM:617156
HP:0031797	Clinical course	4705	NDUFA10	OMIM:618243
HP:0031797	Clinical course	11274	USP18	OMIM:617397
HP:0031797	Clinical course	6718	AKR1D1	OMIM:235555
HP:0031797	Clinical course	3054	HCFC1	OMIM:309541
HP:0031797	Clinical course	439	GET3	OMIM:620203
HP:0031797	Clinical course	714	C1QC	OMIM:620322
HP:0031797	Clinical course	10092	ARPC5	OMIM:620565
HP:0031797	Clinical course	6821	SUOX	OMIM:272300
HP:0031797	Clinical course	2898	GRIK2	OMIM:619580
HP:0031797	Clinical course	23258	DENND5A	OMIM:617281
HP:0031797	Clinical course	7161	TP73	OMIM:619466
HP:0031797	Clinical course	2906	GRIN2D	OMIM:617162
HP:0031797	Clinical course	7317	UBA1	OMIM:301830
HP:0031797	Clinical course	146206	CARMIL2	OMIM:618131
HP:0031797	Clinical course	2257	FGF12	OMIM:617166
HP:0031797	Clinical course	594	BCKDHB	OMIM:620698
HP:0031797	Clinical course	1629	DBT	OMIM:620699
HP:0031797	Clinical course	4548	MTR	OMIM:250940
HP:0031797	Clinical course	84701	COX4I2	OMIM:612714
HP:0031797	Clinical course	79736	TEFM	OMIM:620451
HP:0031797	Clinical course	3674	ITGA2B	OMIM:273800
HP:0031797	Clinical course	11212	PLPBP	OMIM:617290
HP:0031797	Clinical course	51241	COX16	OMIM:619355
HP:0031797	Clinical course	37	ACADVL	OMIM:201475
HP:0031797	Clinical course	54809	SAMD9	OMIM:617053
HP:0031797	Clinical course	134218	DNAJC21	OMIM:617052
HP:0031797	Clinical course	51095	TRNT1	OMIM:616084
HP:0031797	Clinical course	35	ACADS	OMIM:201470
HP:0031797	Clinical course	29927	SEC61A1	OMIM:617056
HP:0031797	Clinical course	4762	NEUROG1	OMIM:620469
HP:0031797	Clinical course	435	ASL	OMIM:207900
HP:0031797	Clinical course	2673	GFPT1	OMIM:610542
HP:0031797	Clinical course	5019	OXCT1	OMIM:245050
HP:0031797	Clinical course	9420	CYP7B1	OMIM:613812
HP:0031797	Clinical course	286	ANK1	OMIM:182900
HP:0031797	Clinical course	1041	CDSN	OMIM:270300
HP:0031797	Clinical course	162417	NAGS	OMIM:237310
HP:0031797	Clinical course	11198	SUPT16H	OMIM:619480
HP:0031797	Clinical course	123264	SLC51B	OMIM:619481
HP:0031797	Clinical course	283446	MYO1H	OMIM:619482
HP:0031797	Clinical course	2571	GAD1	OMIM:619124
HP:0031797	Clinical course	285590	SH3PXD2B	OMIM:249420
HP:0031797	Clinical course	374354	NHLRC2	OMIM:618278
HP:0031797	Clinical course	10660	LBX1	OMIM:619483
HP:0031797	Clinical course	2566	GABRG2	OMIM:618396
HP:0031797	Clinical course	3557	IL1RN	OMIM:612852
HP:0031797	Clinical course	539	ATP5PO	OMIM:620359
HP:0031797	Clinical course	91662	NLRP12	OMIM:611762
HP:0031797	Clinical course	51703	ACSL5	OMIM:620357
HP:0031797	Clinical course	55806	HR	OMIM:203655
HP:0031797	Clinical course	8911	CACNA1I	OMIM:620114
HP:0031797	Clinical course	4645	MYO5B	OMIM:251850
HP:0031797	Clinical course	3030	HADHA	OMIM:609015
HP:0031797	Clinical course	6123	RPL3L	OMIM:619371
HP:0031797	Clinical course	6554	SLC10A1	OMIM:619256
HP:0031797	Clinical course	5805	PTS	OMIM:261640
HP:0031797	Clinical course	2203	FBP1	OMIM:229700
HP:0031797	Clinical course	100	ADA	OMIM:102700
HP:0031797	Clinical course	383	ARG1	OMIM:207800
HP:0031797	Clinical course	6340	SCNN1G	OMIM:620126
HP:0031797	Clinical course	3295	HSD17B4	OMIM:261515
HP:0031797	Clinical course	875	CBS	OMIM:236200
HP:0031797	Clinical course	779	CACNA1S	OMIM:620246
HP:0031797	Clinical course	6338	SCNN1B	OMIM:620125
HP:0031797	Clinical course	81615	TMEM163	OMIM:620243
HP:0031797	Clinical course	84081	NSRP1	OMIM:620001
HP:0031797	Clinical course	5498	PPOX	OMIM:620483
HP:0031797	Clinical course	124093	CCDC78	OMIM:614807
HP:0031797	Clinical course	129285	PPP1R21	OMIM:619383
HP:0031797	Clinical course	50617	ATP6V0A4	OMIM:602722
HP:0031797	Clinical course	3690	ITGB3	OMIM:619267
HP:0031797	Clinical course	1373	CPS1	OMIM:237300
HP:0031797	Clinical course	284111	SLC13A5	OMIM:615905
HP:0031797	Clinical course	4067	LYN	OMIM:620376
HP:0031797	Clinical course	90952	ESAM	OMIM:620371
HP:0031797	Clinical course	83483	PLVAP	OMIM:618183
HP:0031797	Clinical course	85016	CFAP300	OMIM:618063
HP:0031797	Clinical course	83538	ODAD4	OMIM:617092
HP:0031797	Clinical course	79717	PPCS	OMIM:618189
HP:0031797	Clinical course	9722	NOS1AP	OMIM:619155
HP:0031797	Clinical course	23241	PACS2	OMIM:618067
HP:0031797	Clinical course	3767	KCNJ11	OMIM:610582
HP:0031797	Clinical course	3767	KCNJ11	OMIM:601820
HP:0031797	Clinical course	55325	UFSP2	OMIM:620028
HP:0031797	Clinical course	10667	FARS2	OMIM:614946
HP:0031797	Clinical course	56916	SMARCAD1	OMIM:129200
HP:0031797	Clinical course	57176	VARS2	OMIM:615917
HP:0031797	Clinical course	501	ALDH7A1	OMIM:266100
HP:0031797	Clinical course	9690	UBE3C	OMIM:620270
HP:0031797	Clinical course	6576	SLC25A1	OMIM:618197
HP:0031797	Clinical course	1352	COX10	OMIM:619046
HP:0031797	Clinical course	55788	LMBRD1	OMIM:277380
HP:0031797	Clinical course	3141	HLCS	OMIM:253270
HP:0031797	Clinical course	973	CD79A	OMIM:613501
HP:0031797	Clinical course	5015	OTX2	OMIM:613986
HP:0031797	Clinical course	9915	ARNT2	OMIM:615926
HP:0031797	Clinical course	57582	KCNT1	OMIM:614959
HP:0031797	Clinical course	56246	MRAP	OMIM:607398
HP:0031797	Clinical course	79048	SECISBP2	OMIM:609698
HP:0031797	Clinical course	275	AMT	OMIM:620398
HP:0031797	Clinical course	1353	COX11	OMIM:620275
HP:0031797	Clinical course	6439	SFTPB	OMIM:265120
HP:0031797	Clinical course	6005	RHAG	OMIM:185000
HP:0031797	Clinical course	64324	NSD1	OMIM:117550
HP:0031797	Clinical course	8913	CACNA1G	OMIM:618087
HP:0031797	Clinical course	1272	CNTN1	OMIM:612540
HP:0031797	Clinical course	92579	G6PC3	OMIM:612541
HP:0031797	Clinical course	6499	SKIC2	OMIM:614602
HP:0031797	Clinical course	340061	STING1	OMIM:615934
HP:0031797	Clinical course	8792	TNFRSF11A	OMIM:612301
HP:0031797	Clinical course	5624	PROC	OMIM:612304
HP:0031797	Clinical course	3778	KCNMA1	OMIM:609446
HP:0031797	Clinical course	23325	WASHC4	OMIM:615817
HP:0031797	Clinical course	256297	PTF1A	OMIM:615935
HP:0031797	Clinical course	54675	CRLS1	OMIM:620167
HP:0031797	Clinical course	1854	DUT	OMIM:620044
HP:0031797	Clinical course	79087	ALG12	OMIM:607143
HP:0031797	Clinical course	8802	SUCLG1	OMIM:245400
HP:0031797	Clinical course	132158	GLYCTK	OMIM:220120
HP:0031797	Clinical course	6999	TDO2	OMIM:600627
HP:0031797	Clinical course	50674	NEUROG3	OMIM:610370
HP:0031797	Clinical course	84300	UQCC2	OMIM:615824
HP:0031797	Clinical course	4338	MOCS2	OMIM:252160
HP:0031797	Clinical course	63894	VIPAS39	OMIM:613404
HP:0031797	Clinical course	9152	SLC6A5	OMIM:614618
HP:0031797	Clinical course	3055	HCK	OMIM:620296
HP:0031797	Clinical course	65109	UPF3B	OMIM:300676
HP:0031797	Clinical course	2677	GGCX	OMIM:277450
HP:0031797	Clinical course	5190	PEX6	OMIM:614862
HP:0031797	Clinical course	6774	STAT3	OMIM:615952
HP:0031797	Clinical course	26053	AUTS2	OMIM:615834
HP:0031797	Clinical course	64446	DNAI2	OMIM:612444
HP:0031797	Clinical course	2073	ERCC5	OMIM:278780
HP:0031797	Clinical course	79751	SLC25A22	OMIM:609304
HP:0031797	Clinical course	23600	AMACR	OMIM:214950
HP:0031797	Clinical course	190	NR0B1	OMIM:300200
HP:0031797	Clinical course	4306	NR3C2	OMIM:177735
HP:0031797	Clinical course	440138	ALG11	OMIM:613661
HP:0031797	Clinical course	54919	DNAAF5	OMIM:614874
HP:0031797	Clinical course	5627	PROS1	OMIM:614514
HP:0031797	Clinical course	114548	NLRP3	OMIM:607115
HP:0031797	Clinical course	7355	SLC35A2	OMIM:300896
HP:0031797	Clinical course	10743	RAI1	OMIM:182290
HP:0031797	Clinical course	9928	KIF14	OMIM:617914
HP:0031797	Clinical course	1634	DCN	OMIM:610048
HP:0031797	Clinical course	445	ASS1	OMIM:215700
HP:0031797	Clinical course	28962	OSTM1	OMIM:259720
HP:0031797	Clinical course	84978	FRMD5	OMIM:620094
HP:0031797	Clinical course	51251	NT5C3A	OMIM:266120
HP:0031797	Clinical course	10159	ATP6AP2	OMIM:300423
HP:0031797	Clinical course	8694	DGAT1	OMIM:615863
HP:0031797	Clinical course	10243	GPHN	OMIM:615501
HP:0031797	Clinical course	57017	COQ9	OMIM:614654
HP:0031797	Clinical course	57107	PDSS2	OMIM:614652
HP:0031797	Clinical course	3329	HSPD1	OMIM:612233
HP:0031797	Clinical course	22858	CILK1	OMIM:617924
HP:0031797	Clinical course	6664	SOX11	OMIM:615866
HP:0031797	Clinical course	339453	TMEM240	OMIM:607454
HP:0031797	Clinical course	1861	TOR1A	OMIM:128100
HP:0031797	Clinical course	54704	PDP1	OMIM:608782
HP:0031797	Clinical course	8600	TNFSF11	OMIM:259710
HP:0031797	Clinical course	4054	LTBP3	OMIM:617809
HP:0031797	Clinical course	201294	UNC13D	OMIM:608898
HP:0031797	Clinical course	2982	GUCY1A1	OMIM:615750
HP:0031797	Clinical course	7167	TPI1	OMIM:615512
HP:0031797	Clinical course	763	CA5A	OMIM:615751
HP:0031797	Clinical course	132	ADK	OMIM:614300
HP:0031797	Clinical course	2290	FOXG1	OMIM:613454
HP:0031797	Clinical course	9414	TJP2	OMIM:615878
HP:0031797	Clinical course	6328	SCN3A	OMIM:617935
HP:0031797	Clinical course	6328	SCN3A	OMIM:617938
HP:0031797	Clinical course	4072	EPCAM	OMIM:613217
HP:0031797	Clinical course	6948	TCN2	OMIM:275350
HP:0031797	Clinical course	2258	FGF13	OMIM:301058
HP:0031797	Clinical course	54768	HYDIN	OMIM:608647
HP:0031797	Clinical course	5443	POMC	OMIM:609734
HP:0031797	Clinical course	5859	QARS1	OMIM:615760
HP:0031797	Clinical course	10525	HYOU1	OMIM:233600
HP:0031797	Clinical course	54931	TRMT10C	OMIM:616974
HP:0031797	Clinical course	169792	GLIS3	OMIM:610199
HP:0031797	Clinical course	6513	SLC2A1	OMIM:608885
HP:0031797	Clinical course	1767	DNAH5	OMIM:608644
HP:0031797	Clinical course	3033	HADH	OMIM:609975
HP:0031797	Clinical course	79572	ATP13A3	OMIM:265400
HP:0031797	Clinical course	10616	RBCK1	OMIM:615895
HP:0031797	Clinical course	26525	IL36RN	OMIM:614204
HP:0031797	Clinical course	6606	SMN1	OMIM:253300
HP:0031797	Clinical course	4594	MMUT	OMIM:251000
HP:0031797	Clinical course	8471	IRS4	OMIM:301035
HP:0031797	Clinical course	3758	KCNJ1	OMIM:241200
HP:0031797	Clinical course	3762	KCNJ5	OMIM:613485
HP:0031797	Clinical course	7421	VDR	OMIM:277440
HP:0031797	Clinical course	23152	CIC	OMIM:617600
HP:0031797	Clinical course	1729	DIAPH1	OMIM:616632
HP:0031797	Clinical course	5406	PNLIP	OMIM:614338
HP:0031797	Clinical course	326625	MMAB	OMIM:251110
HP:0031797	Clinical course	80270	HSD3B7	OMIM:607765
HP:0031797	Clinical course	11019	LIAS	OMIM:614462
HP:0031797	Clinical course	6812	STXBP1	OMIM:612164
HP:0031797	Clinical course	11222	MRPL3	OMIM:614582
HP:0031797	Clinical course	23568	ARL2BP	OMIM:615434
HP:0031797	Clinical course	3747	KCNC2	OMIM:619913
HP:0031797	Clinical course	94137	RP1L1	OMIM:618826
HP:0031797	Clinical course	6531	SLC6A3	OMIM:613135
HP:0031797	Clinical course	56270	WDR45B	OMIM:617977
HP:0031797	Clinical course	7507	XPA	OMIM:278700
HP:0031797	Clinical course	200894	ARL13B	OMIM:612291
HP:0031797	Clinical course	51816	ADA2	OMIM:615688
HP:0031797	Clinical course	57570	TRMT5	OMIM:616539
HP:0031797	Clinical course	100506658	OCLN	OMIM:251290
HP:0031797	Clinical course	113246	C12orf57	OMIM:218340
HP:0031797	Clinical course	6337	SCNN1A	OMIM:264350
HP:0031797	Clinical course	51	ACOX1	OMIM:264470
HP:0031797	Clinical course	9076	CLDN1	OMIM:607626
HP:0031797	Clinical course	95	ACY1	OMIM:609924
HP:0031797	Clinical course	10577	NPC2	OMIM:607625
HP:0031797	Clinical course	5879	RAC1	OMIM:617751
HP:0031797	Clinical course	27040	LAT	OMIM:617514
HP:0031797	Clinical course	55812	SPATA7	OMIM:604232
HP:0031797	Clinical course	2639	GCDH	OMIM:231670
HP:0031797	Clinical course	18	ABAT	OMIM:613163
HP:0031797	Clinical course	7543	ZFX	OMIM:301118
HP:0031797	Clinical course	1794	DOCK2	OMIM:616433
HP:0031797	Clinical course	221927	BRAT1	OMIM:614498
HP:0031797	Clinical course	83544	DNAL1	OMIM:614017
HP:0031797	Clinical course	2746	GLUD1	OMIM:606762
HP:0031797	Clinical course	5052	PRDX1	OMIM:277400
HP:0031797	Clinical course	25974	MMACHC	OMIM:277400
HP:0031797	Clinical course	9990	SLC12A6	OMIM:218000
HP:0031797	Clinical course	7415	VCP	OMIM:616687
HP:0031797	Clinical course	400916	CHCHD10	OMIM:615911
HP:0031797	Clinical course	5111	PCNA	OMIM:615919
HP:0031797	Clinical course	79581	SLC52A2	OMIM:614707
HP:0031797	Clinical course	8566	PDXK	OMIM:618511
HP:0031797	Clinical course	56616	DIABLO	OMIM:614152
HP:0031797	Clinical course	8722	CTSF	OMIM:615362
HP:0031797	Clinical course	10528	NOP56	OMIM:614153
HP:0031797	Clinical course	790	CAD	OMIM:616457
HP:0031797	Clinical course	8526	DGKE	OMIM:615008
HP:0031797	Clinical course	2273	FHL1	OMIM:300696
HP:0031797	Clinical course	64207	IRF2BPL	OMIM:618088
HP:0031797	Clinical course	7084	TK2	OMIM:609560
HP:0031797	Clinical course	8560	DEGS1	OMIM:618404
HP:0031797	Clinical course	215	ABCD1	OMIM:300100
HP:0031797	Clinical course	10715	CERS1	OMIM:616230
HP:0031797	Clinical course	83636	C19orf12	OMIM:614298
HP:0031797	Clinical course	246243	RNASEH1	OMIM:616479
HP:0031797	Clinical course	11160	ERLIN2	OMIM:611225
HP:0031797	Clinical course	10382	TUBB4A	OMIM:612438
HP:0031797	Clinical course	144165	PRICKLE1	OMIM:612437
HP:0031797	Clinical course	9907	AP5Z1	OMIM:613647
HP:0031797	Clinical course	79152	FA2H	OMIM:612319
HP:0031797	Clinical course	113278	SLC52A3	OMIM:211530
HP:0031797	Clinical course	9711	RUBCN	OMIM:615705
HP:0031797	Clinical course	9897	WASHC5	OMIM:603563
HP:0031797	Clinical course	5311	PKD2	OMIM:613095
HP:0031797	Clinical course	8879	SGPL1	OMIM:617575
HP:0031797	Clinical course	23259	DDHD2	OMIM:615033
HP:0031797	Clinical course	9255	AIMP1	OMIM:260600
HP:0031797	Clinical course	90624	LYRM7	OMIM:615838
HP:0031797	Clinical course	64837	KLC2	OMIM:609541
HP:0031797	Clinical course	6607	SMN2	OMIM:253400
HP:0031797	Clinical course	10908	PNPLA6	OMIM:215470
HP:0031797	Clinical course	23503	ZFYVE26	OMIM:270700
HP:0031797	Clinical course	6305	SBF1	OMIM:615284
HP:0031797	Clinical course	1615	DARS1	OMIM:615281
HP:0031797	Clinical course	4669	NAGLU	OMIM:616491
HP:0031797	Clinical course	122961	ISCA2	OMIM:616370
HP:0031797	Clinical course	9409	PEX16	OMIM:614877
HP:0031797	Clinical course	9440	MED17	OMIM:613668
HP:0031797	Clinical course	10253	SPRY2	OMIM:616818
HP:0031797	Clinical course	8106	PABPN1	OMIM:164300
HP:0031797	Clinical course	10280	SIGMAR1	OMIM:605726
HP:0031797	Clinical course	7369	UMOD	OMIM:162000
HP:0031797	Clinical course	8813	DPM1	OMIM:608799
HP:0031797	Clinical course	5604	MAP2K1	OMIM:155950
HP:0031797	Clinical course	22906	TRAK1	OMIM:618201
HP:0031797	Clinical course	57679	ALS2	OMIM:205100
HP:0031797	Clinical course	57679	ALS2	OMIM:607225
HP:0031797	Clinical course	55275	VPS53	OMIM:615851
HP:0031797	Clinical course	10133	OPTN	OMIM:613435
HP:0031797	Clinical course	6683	SPAST	OMIM:182601
HP:0031797	Clinical course	1384	CRAT	OMIM:617917
HP:0031797	Clinical course	57704	GBA2	OMIM:614409
HP:0031797	Clinical course	91574	MTRFR	OMIM:613559
HP:0031797	Clinical course	55679	LIMS2	OMIM:616827
HP:0031797	Clinical course	85021	REPS1	OMIM:617916
HP:0031797	Clinical course	51196	PLCE1	OMIM:610725
HP:0031797	Clinical course	5825	ABCD3	OMIM:616278
HP:0031797	Clinical course	79734	KCTD17	OMIM:616398
HP:0031797	Clinical course	51067	YARS2	OMIM:613561
HP:0031797	Clinical course	3658	IREB2	OMIM:618451
HP:0031797	Clinical course	51693	TRAPPC2L	OMIM:618331
HP:0031797	Clinical course	2583	B4GALNT1	OMIM:609195
HP:0031797	Clinical course	23064	SETX	OMIM:606002
HP:0031797	Clinical course	3912	LAMB1	OMIM:615191
HP:0031797	Clinical course	84706	GPT2	OMIM:616281
HP:0031797	Clinical course	1291	COL6A1	OMIM:254090
HP:0031797	Clinical course	374291	NDUFS7	OMIM:618224
HP:0031797	Clinical course	23516	SLC39A14	OMIM:617013
HP:0031797	Clinical course	10309	CCNO	OMIM:615872
HP:0031797	Clinical course	54832	VPS13C	OMIM:616840
HP:0031797	Clinical course	57122	NUP107	OMIM:618348
HP:0031797	Clinical course	57122	NUP107	OMIM:616730
HP:0031797	Clinical course	6442	SGCA	OMIM:608099
HP:0031797	Clinical course	123606	NIPA1	OMIM:600363
HP:0031797	Clinical course	6548	SLC9A1	OMIM:616291
HP:0031797	Clinical course	91942	NDUFAF2	OMIM:618233
HP:0031797	Clinical course	3714	JAG2	OMIM:619566
HP:0031797	Clinical course	92667	MGME1	OMIM:615084
HP:0031797	Clinical course	8878	SQSTM1	OMIM:617145
HP:0031797	Clinical course	8878	SQSTM1	OMIM:616437
HP:0031797	Clinical course	80347	COASY	OMIM:615643
HP:0031797	Clinical course	1287	COL4A5	OMIM:301050
HP:0031797	Clinical course	79977	GRHL2	OMIM:608641
HP:0031797	Clinical course	154881	KCTD7	OMIM:611726
HP:0031797	Clinical course	23218	NBEAL2	OMIM:139090
HP:0031797	Clinical course	427	ASAH1	OMIM:159950
HP:0031797	Clinical course	427	ASAH1	OMIM:228000
HP:0031797	Clinical course	23005	MAPKBP1	OMIM:617271
HP:0031797	Clinical course	55967	NDUFA12	OMIM:618244
HP:0031797	Clinical course	4715	NDUFB9	OMIM:618245
HP:0031797	Clinical course	727676	SNORD118	OMIM:614561
HP:0031797	Clinical course	3746	KCNC1	OMIM:616187
HP:0031797	Clinical course	9512	PMPCB	OMIM:617954
HP:0031797	Clinical course	2058	EPRS1	OMIM:617951
HP:0031797	Clinical course	7965	AIMP2	OMIM:618006
HP:0031797	Clinical course	54463	RETREG1	OMIM:613115
HP:0031797	Clinical course	4361	MRE11	OMIM:604391
HP:0031797	Clinical course	9132	KCNQ4	OMIM:600101
HP:0031797	Clinical course	4982	TNFRSF11B	OMIM:239000
HP:0031797	Clinical course	51102	MECR	OMIM:617282
HP:0031797	Clinical course	9757	KMT2B	OMIM:617284
HP:0031797	Clinical course	1814	DRD3	OMIM:190300
HP:0031797	Clinical course	4507	MTAP	OMIM:112250
HP:0031797	Clinical course	23065	EMC1	OMIM:616875
HP:0031797	Clinical course	80736	SLC44A4	OMIM:617606
HP:0031797	Clinical course	55697	VAC14	OMIM:617054
HP:0031797	Clinical course	56978	PRDM8	OMIM:616640
HP:0031797	Clinical course	81689	ISCA1	OMIM:617613
HP:0031797	Clinical course	1286	COL4A4	OMIM:203780
HP:0031797	Clinical course	4337	MOCS1	OMIM:252150
HP:0031797	Clinical course	3839	KPNA3	OMIM:620106
HP:0031797	Clinical course	1890	TYMP	OMIM:603041
HP:0031797	Clinical course	122553	TRAPPC6B	OMIM:617862
HP:0031797	Clinical course	10613	ERLIN1	OMIM:615681
HP:0031797	Clinical course	6253	RTN2	OMIM:604805
HP:0031797	Clinical course	9688	NUP93	OMIM:616892
HP:0031797	Clinical course	23230	VPS13A	OMIM:200150
HP:0031797	Clinical course	1786	DNMT1	OMIM:614116
HP:0031797	Clinical course	1786	DNMT1	OMIM:604121
HP:0031797	Clinical course	2799	GNS	OMIM:252940
HP:0031797	Clinical course	80208	SPG11	OMIM:604360
HP:0031797	Clinical course	50964	SOST	OMIM:122860
HP:0031797	Clinical course	51062	ATL1	OMIM:613708
HP:0031797	Clinical course	3094	HINT1	OMIM:137200
HP:0031797	Clinical course	79934	COQ8B	OMIM:615573
HP:0031797	Clinical course	29920	PYCR2	OMIM:616420
HP:0031797	Clinical course	9197	SLC33A1	OMIM:614482
HP:0031797	Clinical course	8575	PRKRA	OMIM:612067
HP:0031797	Clinical course	7515	XRCC1	OMIM:617633
HP:0031797	Clinical course	10939	AFG3L2	OMIM:614487
HP:0031797	Clinical course	79784	MYH14	OMIM:614369
HP:0031797	Clinical course	23533	PIK3R5	OMIM:615217
HP:0031797	Clinical course	63916	ELMO2	OMIM:606893
HP:0031797	Clinical course	84153	RNASEH2C	OMIM:610329
HP:0031797	Clinical course	81494	CFHR5	OMIM:614809
HP:0031797	Clinical course	8086	AAAS	OMIM:231550
HP:0031797	Clinical course	23279	NUP160	OMIM:618178
HP:0031797	Clinical course	56947	MFF	OMIM:617086
HP:0031797	Clinical course	118429	ANTXR2	OMIM:228600
HP:0031797	Clinical course	4093	SMAD9	OMIM:615342
HP:0031797	Clinical course	55331	ACER3	OMIM:617762
HP:0031797	Clinical course	79902	NUP85	OMIM:618176
HP:0031797	Clinical course	4643	MYO1E	OMIM:614131
HP:0031797	Clinical course	80169	CTC1	OMIM:612199
HP:0031797	Clinical course	3777	KCNK3	OMIM:615344
HP:0031797	Clinical course	9131	AIFM1	OMIM:300816
HP:0031797	Clinical course	10749	KIF1C	OMIM:611302
HP:0031797	Clinical course	6622	SNCA	OMIM:168601
HP:0031797	Clinical course	8398	PLA2G6	OMIM:610217
HP:0031797	Clinical course	203859	ANO5	OMIM:611307
HP:0031797	Clinical course	50640	PNPLA8	OMIM:251950
HP:0031797	Clinical course	22909	FAN1	OMIM:614817
HP:0031797	Clinical course	7003	TEAD1	OMIM:108985
HP:0031797	Clinical course	1184	CLCN5	OMIM:308990
HP:0031797	Clinical course	90678	LRSAM1	OMIM:614436
HP:0031797	Clinical course	54834	GDAP2	OMIM:618369
HP:0031797	Clinical course	5582	PRKCG	OMIM:605361
HP:0031797	Clinical course	2705	GJB1	OMIM:302800
HP:0031797	Clinical course	55157	DARS2	OMIM:611105
HP:0031797	Clinical course	81	ACTN4	OMIM:603278
HP:0031797	Clinical course	81545	FBXO38	OMIM:615575
HP:0031797	Clinical course	200403	VWA3B	OMIM:616948
HP:0031797	Clinical course	2896	GRN	OMIM:614706
HP:0031797	Clinical course	10282	BET1	OMIM:254100
HP:0031797	Clinical course	7957	EPM2A	OMIM:254780
HP:0031797	Clinical course	286676	ILDR1	OMIM:609646
HP:0031797	Clinical course	84617	TUBB6	OMIM:617732
HP:0031797	Clinical course	10846	PDE10A	OMIM:616922
HP:0031797	Clinical course	23203	PMPCA	OMIM:213200
HP:0031797	Clinical course	9474	ATG5	OMIM:617584
HP:0031797	Clinical course	3859	KRT12	OMIM:122100
HP:0031797	Clinical course	55689	YEATS2	OMIM:615127
HP:0031797	Clinical course	23562	CLDN14	OMIM:614035
HP:0031797	Clinical course	10299	MARCHF6	OMIM:613608
HP:0031797	Clinical course	2294	FOXF1	OMIM:265380
HP:0031797	Clinical course	5358	PLS3	OMIM:306950
HP:0031797	Clinical course	6862	TBXT	OMIM:615709
HP:0031797	Clinical course	55165	CEP55	OMIM:236500
HP:0031797	Clinical course	4716	NDUFB10	OMIM:619003
HP:0031797	Clinical course	23396	PIP5K1C	OMIM:611369
HP:0031797	Clinical course	27152	INTU	OMIM:617925
HP:0031797	Clinical course	2110	ETFDH	OMIM:231680
HP:0031797	Clinical course	2108	ETFA	OMIM:231680
HP:0031797	Clinical course	2109	ETFB	OMIM:231680
HP:0031797	Clinical course	8772	FADD	OMIM:613759
HP:0031797	Clinical course	27316	RBMX	OMIM:309555
HP:0031797	Clinical course	3155	HMGCL	OMIM:246450
HP:0031797	Clinical course	22872	SEC31A	OMIM:618651
HP:0031797	Clinical course	5331	PLCB3	OMIM:618961
HP:0031797	Clinical course	26503	SLC17A5	OMIM:269920
HP:0031797	Clinical course	84833	ATP5MK	OMIM:618683
HP:0031797	Clinical course	29960	MRM2	OMIM:618567
HP:0031797	Clinical course	219844	HYLS1	OMIM:236680
HP:0031797	Clinical course	5447	POR	ORPHA:95699
HP:0031797	Clinical course	10203	CALCRL	OMIM:618773
HP:0031797	Clinical course	2215	FCGR3B	ORPHA:464370
HP:0031797	Clinical course	4256	MGP	OMIM:245150
HP:0031797	Clinical course	3043	HBB	ORPHA:2133
HP:0031797	Clinical course	462	SERPINC1	ORPHA:82
HP:0031797	Clinical course	4618	MYF6	ORPHA:169189
HP:0031797	Clinical course	3209	HOXA13	ORPHA:2438
HP:0031797	Clinical course	213	ALB	ORPHA:86816
HP:0031797	Clinical course	388015	RTL1	ORPHA:96334
HP:0031797	Clinical course	8788	DLK1	ORPHA:96334
HP:0031797	Clinical course	55384	MEG3	ORPHA:96334
HP:0031797	Clinical course	6006	RHCE	ORPHA:71275
HP:0031797	Clinical course	6007	RHD	ORPHA:71275
HP:0031797	Clinical course	1351	COX8A	OMIM:619059
HP:0031797	Clinical course	149371	EXOC8	OMIM:619076
HP:0031797	Clinical course	6304	SATB1	OMIM:619229
HP:0031797	Clinical course	79879	CCDC134	OMIM:619795
HP:0031797	Clinical course	10112	KIF20A	OMIM:619433
HP:0031797	Clinical course	55388	MCM10	OMIM:619313
HP:0031797	Clinical course	6873	TAF2	OMIM:615599
HP:0031797	Clinical course	201595	STT3B	OMIM:615597
HP:0031797	Clinical course	5885	RAD21	OMIM:614701
HP:0031797	Clinical course	5396	PRRX1	OMIM:202650
HP:0031797	Clinical course	23363	OBSL1	OMIM:612921
HP:0031797	Clinical course	1062	CENPE	OMIM:616051
HP:0031797	Clinical course	55033	FKBP14	OMIM:614557
HP:0031797	Clinical course	1161	ERCC8	OMIM:216400
HP:0031797	Clinical course	145873	MESP2	OMIM:277300
HP:0031797	Clinical course	10683	DLL3	OMIM:277300
HP:0031797	Clinical course	64175	P3H1	OMIM:610915
HP:0031797	Clinical course	1146	CHRNG	OMIM:265000
HP:0031797	Clinical course	50619	DEF6	OMIM:619573
HP:0031797	Clinical course	7468	NSD2	OMIM:619695
HP:0031797	Clinical course	10606	PAICS	OMIM:619859
HP:0031797	Clinical course	64131	XYLT1	OMIM:615777
HP:0031797	Clinical course	23116	TOGARAM1	OMIM:619185
HP:0031797	Clinical course	6045	RNF2	OMIM:619460
HP:0031797	Clinical course	6557	SLC12A1	OMIM:601678
HP:0031797	Clinical course	57498	KIDINS220	OMIM:619501
HP:0031797	Clinical course	57498	KIDINS220	OMIM:617296
HP:0031797	Clinical course	80776	B9D2	OMIM:614175
HP:0031797	Clinical course	8985	PLOD3	OMIM:612394
HP:0031797	Clinical course	54872	PIGG	OMIM:616917
HP:0031797	Clinical course	26834	RNU4-2	OMIM:620851
HP:0031797	Clinical course	3572	IL6ST	OMIM:619751
HP:0031797	Clinical course	4629	MYH11	OMIM:619351
HP:0031797	Clinical course	51692	CPSF3	OMIM:619876
HP:0031797	Clinical course	116115	ZNF526	OMIM:619877
HP:0031797	Clinical course	10056	FARSB	OMIM:613658
HP:0031797	Clinical course	3800	KIF5C	OMIM:615282
HP:0031797	Clinical course	10293	TRAIP	OMIM:616777
HP:0031797	Clinical course	163175	LGI4	OMIM:617468
HP:0031797	Clinical course	55164	SHQ1	OMIM:619922
HP:0031797	Clinical course	23169	SLC35D1	OMIM:269250
HP:0031797	Clinical course	23007	PLCH1	OMIM:619895
HP:0031797	Clinical course	11014	KDELR2	OMIM:619131
HP:0031797	Clinical course	10463	SLC30A9	OMIM:617595
HP:0031797	Clinical course	2193	FARSA	OMIM:619013
HP:0031797	Clinical course	2990	GUSB	OMIM:253220
HP:0031797	Clinical course	2146	EZH2	OMIM:277590
HP:0031797	Clinical course	5557	PRIM1	OMIM:620005
HP:0031797	Clinical course	7473	WNT3	OMIM:273395
HP:0031797	Clinical course	286204	CRB2	OMIM:219730
HP:0031797	Clinical course	6654	SOS1	OMIM:610733
HP:0031797	Clinical course	282996	RBM20	OMIM:613172
HP:0031797	Clinical course	125150	ZSWIM7	OMIM:619831
HP:0031797	Clinical course	151648	SGO1	OMIM:616201
HP:0031797	Clinical course	253017	TECRL	OMIM:614021
HP:0031797	Clinical course	22880	MORC2	OMIM:616688
HP:0031797	Clinical course	9927	MFN2	OMIM:151800
HP:0031797	Clinical course	144132	DNHD1	OMIM:619712
HP:0031797	Clinical course	148738	HJV	OMIM:602390
HP:0031797	Clinical course	4210	MEFV	OMIM:249100
HP:0031797	Clinical course	308	ANXA5	OMIM:614391
HP:0031797	Clinical course	10686	CLDN16	OMIM:248250
HP:0031797	Clinical course	7486	WRN	OMIM:277700
HP:0031797	Clinical course	10388	SYCP2	OMIM:258150
HP:0031797	Clinical course	8632	DNAH17	OMIM:618643
HP:0031797	Clinical course	23370	ARHGEF18	OMIM:617433
HP:0031797	Clinical course	63976	PRDM16	OMIM:615373
HP:0031797	Clinical course	881	CCIN	OMIM:620838
HP:0031797	Clinical course	10233	LRRC23	OMIM:620848
HP:0031797	Clinical course	221711	SYCP2L	OMIM:620840
HP:0031797	Clinical course	10935	PRDX3	OMIM:619862
HP:0031797	Clinical course	84173	ELMOD3	OMIM:619500
HP:0031797	Clinical course	65975	STK33	OMIM:620849
HP:0031797	Clinical course	55526	DHTKD1	OMIM:615025
HP:0031797	Clinical course	7428	VHL	OMIM:193300
HP:0031797	Clinical course	1111	CHEK1	OMIM:620610
HP:0031797	Clinical course	8295	TRRAP	OMIM:618778
HP:0031797	Clinical course	9529	BAG5	OMIM:619747
HP:0031797	Clinical course	79158	GNPTAB	OMIM:252600
HP:0031797	Clinical course	57639	CCDC146	OMIM:620850
HP:0031797	Clinical course	10594	PRPF8	OMIM:600059
HP:0031797	Clinical course	63982	ANO3	OMIM:615034
HP:0031797	Clinical course	25981	DNAH1	OMIM:617576
HP:0031797	Clinical course	57680	CHD8	OMIM:615032
HP:0031797	Clinical course	199223	TTC21A	OMIM:618429
HP:0031797	Clinical course	89869	PLCZ1	OMIM:617214
HP:0031797	Clinical course	221481	ARMC12	OMIM:620744
HP:0031797	Clinical course	49	ACR	OMIM:620500
HP:0031797	Clinical course	54456	MOV10L1	OMIM:619878
HP:0031797	Clinical course	55823	VPS11	OMIM:619637
HP:0031797	Clinical course	845	CASQ2	OMIM:604772
HP:0031797	Clinical course	10345	TRDN	OMIM:604772
HP:0031797	Clinical course	6262	RYR2	OMIM:604772
HP:0031797	Clinical course	1180	CLCN1	OMIM:255700
HP:0031797	Clinical course	9049	AIP	OMIM:102200
HP:0031797	Clinical course	6101	RP1	OMIM:180100
HP:0031797	Clinical course	6756	SSX1	OMIM:301099
HP:0031797	Clinical course	150365	MEI1	OMIM:618431
HP:0031797	Clinical course	431705	ASTL	OMIM:619643
HP:0031797	Clinical course	7075	TIE1	OMIM:619401
HP:0031797	Clinical course	154197	PNLDC1	OMIM:619528
HP:0031797	Clinical course	145645	TERB2	OMIM:619645
HP:0031797	Clinical course	283847	TERB1	OMIM:619646
HP:0031797	Clinical course	540	ATP7B	OMIM:277900
HP:0031797	Clinical course	2556	GABRA3	OMIM:301091
HP:0031797	Clinical course	83723	TLCD3B	OMIM:619531
HP:0031797	Clinical course	55779	CFAP44	OMIM:617593
HP:0031797	Clinical course	80217	CFAP43	OMIM:617592
HP:0031797	Clinical course	3423	IDS	OMIM:309900
HP:0031797	Clinical course	7867	MAPKAPK3	OMIM:617111
HP:0031797	Clinical course	84131	CEP78	OMIM:617236
HP:0031797	Clinical course	6578	SLCO2A1	OMIM:167100
HP:0031797	Clinical course	6578	SLCO2A1	OMIM:614441
HP:0031797	Clinical course	93953	GCNA	OMIM:301077
HP:0031797	Clinical course	26074	CFAP61	OMIM:620409
HP:0031797	Clinical course	826	CAPNS1	OMIM:620777
HP:0031797	Clinical course	7873	MANF	OMIM:620651
HP:0031797	Clinical course	2617	GARS1	OMIM:601472
HP:0031797	Clinical course	2617	GARS1	OMIM:600794
HP:0031797	Clinical course	353116	RILPL1	OMIM:619790
HP:0031797	Clinical course	199713	NLRP7	OMIM:231090
HP:0031797	Clinical course	4175	MCM6	OMIM:223100
HP:0031797	Clinical course	1730	DIAPH2	OMIM:300511
HP:0031797	Clinical course	84074	QRICH2	OMIM:618341
HP:0031797	Clinical course	147872	KASH5	OMIM:620548
HP:0031797	Clinical course	147872	KASH5	OMIM:620547
HP:0031797	Clinical course	11055	ZPBP	OMIM:619799
HP:0031797	Clinical course	79903	NAA60	OMIM:620786
HP:0031797	Clinical course	4023	LPL	OMIM:238600
HP:0031797	Clinical course	3426	CFI	OMIM:612923
HP:0031797	Clinical course	871	SERPINH1	OMIM:610504
HP:0031797	Clinical course	10049	DNAJB6	OMIM:603511
HP:0031797	Clinical course	317761	C14orf39	OMIM:619202
HP:0031797	Clinical course	84909	AOPEP	OMIM:619565
HP:0031797	Clinical course	402381	SOHLH1	OMIM:618115
HP:0031797	Clinical course	23586	RIGI	OMIM:616298
HP:0031797	Clinical course	122402	TDRD9	OMIM:618110
HP:0031797	Clinical course	402569	KPNA7	OMIM:620319
HP:0031797	Clinical course	140801	RPL10L	OMIM:619689
HP:0031797	Clinical course	8891	EIF2B3	OMIM:620313
HP:0031797	Clinical course	286151	FBXO43	OMIM:619696
HP:0031797	Clinical course	84061	MAGT1	OMIM:300853
HP:0031797	Clinical course	63910	SLC17A9	OMIM:616063
HP:0031797	Clinical course	71	ACTG1	OMIM:604717
HP:0031797	Clinical course	5318	PKP2	OMIM:609040
HP:0031797	Clinical course	254528	MEIOB	OMIM:620686
HP:0031797	Clinical course	254528	MEIOB	OMIM:617706
HP:0031797	Clinical course	11145	PLAAT3	OMIM:620683
HP:0031797	Clinical course	6102	RP2	OMIM:312600
HP:0031797	Clinical course	4864	NPC1	OMIM:257220
HP:0031797	Clinical course	378884	NHLRC1	OMIM:620681
HP:0031797	Clinical course	5130	PCYT1A	OMIM:620680
HP:0031797	Clinical course	4635	MYL4	OMIM:617280
HP:0031797	Clinical course	6795	AURKC	OMIM:243060
HP:0031797	Clinical course	2661	GDF9	OMIM:618014
HP:0031797	Clinical course	10149	ADGRG2	OMIM:300985
HP:0031797	Clinical course	56980	PRDM10	OMIM:620459
HP:0031797	Clinical course	126206	NLRP5	OMIM:620333
HP:0031797	Clinical course	2300	FOXL1	OMIM:620576
HP:0031797	Clinical course	55655	NLRP2	OMIM:620332
HP:0031797	Clinical course	6874	TAF4	OMIM:620450
HP:0031797	Clinical course	7225	TRPC6	OMIM:603965
HP:0031797	Clinical course	10519	CIB1	OMIM:618267
HP:0031797	Clinical course	8468	FKBP6	OMIM:620103
HP:0031797	Clinical course	27349	MCAT	OMIM:620583
HP:0031797	Clinical course	3181	HNRNPA2B1	OMIM:620460
HP:0031797	Clinical course	2335	FN1	OMIM:601894
HP:0031797	Clinical course	5340	PLG	OMIM:619360
HP:0031797	Clinical course	140732	SUN5	OMIM:617187
HP:0031797	Clinical course	7078	TIMP3	OMIM:136900
HP:0031797	Clinical course	144406	CFAP251	OMIM:618152
HP:0031797	Clinical course	79983	POF1B	OMIM:300604
HP:0031797	Clinical course	401024	FSIP2	OMIM:618153
HP:0031797	Clinical course	55145	THAP1	OMIM:602629
HP:0031797	Clinical course	84033	OBSCN	OMIM:620235
HP:0031797	Clinical course	10566	AKAP3	OMIM:620353
HP:0031797	Clinical course	7802	DNALI1	OMIM:620354
HP:0031797	Clinical course	6508	SLC4A3	OMIM:620231
HP:0031797	Clinical course	81624	DIAPH3	OMIM:609129
HP:0031797	Clinical course	375307	CATIP	OMIM:619379
HP:0031797	Clinical course	9319	TRIP13	OMIM:619011
HP:0031797	Clinical course	85358	SHANK3	OMIM:613950
HP:0031797	Clinical course	283417	DPY19L2	OMIM:613958
HP:0031797	Clinical course	1371	CPOX	OMIM:121300
HP:0031797	Clinical course	81833	SPACA1	OMIM:620490
HP:0031797	Clinical course	200162	SPAG17	OMIM:619380
HP:0031797	Clinical course	84277	DNAJC30	OMIM:619382
HP:0031797	Clinical course	2034	EPAS1	OMIM:611783
HP:0031797	Clinical course	117144	CATSPER1	OMIM:612997
HP:0031797	Clinical course	9935	MAFB	OMIM:166300
HP:0031797	Clinical course	10881	ACTL7A	OMIM:620499
HP:0031797	Clinical course	10861	SLC26A1	OMIM:620372
HP:0031797	Clinical course	124404	SEPTIN12	OMIM:614822
HP:0031797	Clinical course	785	CACNB4	OMIM:613855
HP:0031797	Clinical course	4342	MOS	OMIM:620383
HP:0031797	Clinical course	24148	PRPF6	OMIM:613983
HP:0031797	Clinical course	9128	PRPF4	OMIM:615922
HP:0031797	Clinical course	50940	PDE11A	OMIM:610475
HP:0031797	Clinical course	6521	SLC4A1	OMIM:612653
HP:0031797	Clinical course	991	CDC20	OMIM:620276
HP:0031797	Clinical course	84690	SPATA22	OMIM:621002
HP:0031797	Clinical course	84690	SPATA22	OMIM:621001
HP:0031797	Clinical course	678	ZFP36L2	OMIM:620154
HP:0031797	Clinical course	6452	SH3BP2	OMIM:118400
HP:0031797	Clinical course	57697	FANCM	OMIM:618086
HP:0031797	Clinical course	26277	TINF2	OMIM:613990
HP:0031797	Clinical course	57158	JPH2	OMIM:613873
HP:0031797	Clinical course	5346	PLIN1	OMIM:613877
HP:0031797	Clinical course	5573	PRKAR1A	OMIM:610489
HP:0031797	Clinical course	284656	EPHA10	OMIM:620283
HP:0031797	Clinical course	823	CAPN1	OMIM:616907
HP:0031797	Clinical course	80726	IQCN	OMIM:620170
HP:0031797	Clinical course	6691	SPINK2	OMIM:618091
HP:0031797	Clinical course	26090	ABHD12	OMIM:612674
HP:0031797	Clinical course	675	BRCA2	OMIM:612555
HP:0031797	Clinical course	9082	XKRY	OMIM:415000
HP:0031797	Clinical course	9084	VCY	OMIM:415000
HP:0031797	Clinical course	8287	USP9Y	OMIM:415000
HP:0031797	Clinical course	5940	RBMY1A1	OMIM:415000
HP:0031797	Clinical course	8653	DDX3Y	OMIM:415000
HP:0031797	Clinical course	86614	HSFY1	OMIM:415000
HP:0031797	Clinical course	9426	CDY2A	OMIM:415000
HP:0031797	Clinical course	9085	CDY1	OMIM:415000
HP:0031797	Clinical course	1617	DAZ1	OMIM:415000
HP:0031797	Clinical course	442862	PRY2	OMIM:415000
HP:0031797	Clinical course	9081	PRY	OMIM:415000
HP:0031797	Clinical course	9083	BPY2	OMIM:415000
HP:0031797	Clinical course	57054	DAZ3	OMIM:415000
HP:0031797	Clinical course	140032	RPS4Y2	OMIM:415000
HP:0031797	Clinical course	8284	KDM5D	OMIM:415000
HP:0031797	Clinical course	57055	DAZ2	OMIM:415000
HP:0031797	Clinical course	7915	ALDH5A1	OMIM:271980
HP:0031797	Clinical course	84138	SLC7A6OS	OMIM:619191
HP:0031797	Clinical course	80704	SLC19A3	OMIM:607483
HP:0031797	Clinical course	4438	MSH4	OMIM:108420
HP:0031797	Clinical course	4438	MSH4	OMIM:619938
HP:0031797	Clinical course	56159	TEX11	OMIM:309120
HP:0031797	Clinical course	80025	PANK2	OMIM:234200
HP:0031797	Clinical course	3251	HPRT1	OMIM:300322
HP:0031797	Clinical course	2908	NR3C1	OMIM:615962
HP:0031797	Clinical course	6875	TAF4B	OMIM:615841
HP:0031797	Clinical course	84225	ZMYND15	OMIM:615842
HP:0031797	Clinical course	164045	HFM1	OMIM:615724
HP:0031797	Clinical course	10734	STAG3	OMIM:615723
HP:0031797	Clinical course	2488	FSHB	OMIM:229070
HP:0031797	Clinical course	6742	SSBP1	OMIM:165510
HP:0031797	Clinical course	157855	KCNU1	OMIM:620196
HP:0031797	Clinical course	29851	ICOS	OMIM:607594
HP:0031797	Clinical course	91057	CCDC34	OMIM:620084
HP:0031797	Clinical course	219736	STOX1	OMIM:609404
HP:0031797	Clinical course	3300	DNAJB2	OMIM:614881
HP:0031797	Clinical course	10002	NR2E3	OMIM:611131
HP:0031797	Clinical course	26047	CNTNAP2	OMIM:610042
HP:0031797	Clinical course	57817	HAMP	OMIM:613313
HP:0031797	Clinical course	710	SERPING1	OMIM:106100
HP:0031797	Clinical course	26353	HSPB8	OMIM:608673
HP:0031797	Clinical course	50511	SYCP3	OMIM:270960
HP:0031797	Clinical course	80331	DNAJC5	OMIM:162350
HP:0031797	Clinical course	3991	LIPE	OMIM:615980
HP:0031797	Clinical course	64788	LMF1	OMIM:246650
HP:0031797	Clinical course	2581	GALC	OMIM:245200
HP:0031797	Clinical course	1376	CPT2	OMIM:255110
HP:0031797	Clinical course	93426	SYCE1	OMIM:616950
HP:0031797	Clinical course	3371	TNC	OMIM:615629
HP:0031797	Clinical course	6323	SCN1A	OMIM:609634
HP:0031797	Clinical course	25923	ATL3	OMIM:615632
HP:0031797	Clinical course	55187	VPS13D	OMIM:607317
HP:0031797	Clinical course	83552	MFRP	OMIM:611040
HP:0031797	Clinical course	56155	TEX14	OMIM:617707
HP:0031797	Clinical course	1497	CTNS	OMIM:219750
HP:0031797	Clinical course	128338	DRAM2	OMIM:616502
HP:0031797	Clinical course	7784	ZP3	OMIM:617712
HP:0031797	Clinical course	7128	TNFAIP3	OMIM:616744
HP:0031797	Clinical course	10560	SLC19A2	OMIM:249270
HP:0031797	Clinical course	22917	ZP1	OMIM:615774
HP:0031797	Clinical course	57165	GJC2	OMIM:613480
HP:0031797	Clinical course	80705	TSGA10	OMIM:617961
HP:0031797	Clinical course	56154	TEX15	OMIM:617960
HP:0031797	Clinical course	122481	AK7	OMIM:617965
HP:0031797	Clinical course	7289	TULP3	OMIM:619902
HP:0031797	Clinical course	88	ACTN2	OMIM:612158
HP:0031797	Clinical course	6444	SGCD	OMIM:606685
HP:0031797	Clinical course	10568	SLC34A2	OMIM:265100
HP:0031797	Clinical course	10755	GIPC1	OMIM:618940
HP:0031797	Clinical course	5618	PRLR	OMIM:615555
HP:0031797	Clinical course	8988	HSPB3	OMIM:613376
HP:0031797	Clinical course	640	BLK	OMIM:613375
HP:0031797	Clinical course	2548	GAA	OMIM:232300
HP:0031797	Clinical course	26576	SRPK3	OMIM:301134
HP:0031797	Clinical course	1056	CEL	OMIM:609812
HP:0031797	Clinical course	84660	CCDC62	OMIM:619803
HP:0031797	Clinical course	197135	PATL2	OMIM:617743
HP:0031797	Clinical course	151254	C2CD6	OMIM:619805
HP:0031797	Clinical course	83844	USP26	OMIM:301101
HP:0031797	Clinical course	24	ABCA4	OMIM:604116
HP:0031797	Clinical course	54967	CT55	OMIM:301106
HP:0031797	Clinical course	494551	WEE2	OMIM:617996
HP:0031797	Clinical course	4439	MSH5	OMIM:619937
HP:0031797	Clinical course	846	CASR	OMIM:601198
HP:0031797	Clinical course	116369	SLC26A8	OMIM:606766
HP:0031797	Clinical course	1538	CYLC1	OMIM:301119
HP:0031797	Clinical course	4340	MOG	OMIM:614250
HP:0031797	Clinical course	26249	KLHL3	OMIM:614495
HP:0031797	Clinical course	7305	TYROBP	OMIM:221770
HP:0031797	Clinical course	22978	NT5C2	OMIM:613162
HP:0031797	Clinical course	10654	PMVK	OMIM:175800
HP:0031797	Clinical course	199720	GGN	OMIM:619826
HP:0031797	Clinical course	8625	RFXANK	OMIM:620815
HP:0031797	Clinical course	676	BRDT	OMIM:617644
HP:0031797	Clinical course	158401	SHOC1	OMIM:619949
HP:0031797	Clinical course	5161	PDHA2	OMIM:619828
HP:0031797	Clinical course	23308	ICOSLG	OMIM:620825
HP:0031797	Clinical course	5184	PEPD	OMIM:170100
HP:0031797	Clinical course	56259	CTNNBL1	OMIM:619846
HP:0031797	Clinical course	84146	ZNF644	OMIM:614167
HP:0031797	Clinical course	3665	IRF7	OMIM:616345
HP:0031797	Clinical course	51109	RDH11	OMIM:616108
HP:0031797	Clinical course	80739	MPIG6B	OMIM:617441
HP:0031797	Clinical course	23086	EXPH5	OMIM:615028
HP:0031797	Clinical course	1428	CRYM	OMIM:616357
HP:0031797	Clinical course	51702	PADI3	OMIM:191480
HP:0031797	Clinical course	11081	KERA	OMIM:217300
HP:0031797	Clinical course	5146	PDE6C	OMIM:613093
HP:0031797	Clinical course	9895	TECPR2	OMIM:615031
HP:0031797	Clinical course	3590	IL11RA	OMIM:614188
HP:0031797	Clinical course	3026	HABP2	OMIM:188050
HP:0031797	Clinical course	4524	MTHFR	OMIM:188050
HP:0031797	Clinical course	399	RHOH	OMIM:618307
HP:0031797	Clinical course	144811	LACC1	OMIM:618795
HP:0031797	Clinical course	3579	CXCR2	OMIM:619407
HP:0031797	Clinical course	5966	REL	OMIM:619652
HP:0031797	Clinical course	197258	FCSK	OMIM:618324
HP:0031797	Clinical course	345193	LRIT3	OMIM:615058
HP:0031797	Clinical course	10459	MAD2L2	OMIM:617243
HP:0031797	Clinical course	835	CASP2	OMIM:620653
HP:0031797	Clinical course	212	ALAS2	OMIM:300751
HP:0031797	Clinical course	212	ALAS2	OMIM:300752
HP:0031797	Clinical course	6448	SGSH	OMIM:252900
HP:0031797	Clinical course	7062	TCHH	OMIM:617252
HP:0031797	Clinical course	9842	PLEKHM1	OMIM:618107
HP:0031797	Clinical course	10397	NDRG1	OMIM:601455
HP:0031797	Clinical course	55182	RNF220	OMIM:619688
HP:0031797	Clinical course	8492	PRSS12	OMIM:249500
HP:0031797	Clinical course	54014	BRWD1	OMIM:620438
HP:0031797	Clinical course	4068	SH2D1A	OMIM:308240
HP:0031797	Clinical course	331	XIAP	OMIM:308240
HP:0031797	Clinical course	153642	ARSK	OMIM:619698
HP:0031797	Clinical course	64856	VWA1	OMIM:619216
HP:0031797	Clinical course	6775	STAT4	OMIM:620443
HP:0031797	Clinical course	65260	COA7	OMIM:618387
HP:0031797	Clinical course	2155	F7	OMIM:227500
HP:0031797	Clinical course	4070	TACSTD2	OMIM:204870
HP:0031797	Clinical course	2690	GHR	OMIM:262500
HP:0031797	Clinical course	643418	LIPN	OMIM:613943
HP:0031797	Clinical course	4773	NFATC2	OMIM:620232
HP:0031797	Clinical course	6010	RHO	OMIM:610445
HP:0031797	Clinical course	6010	RHO	OMIM:613731
HP:0031797	Clinical course	60506	NYX	OMIM:310500
HP:0031797	Clinical course	7171	TPM4	OMIM:620486
HP:0031797	Clinical course	54936	ADPRS	OMIM:618170
HP:0031797	Clinical course	284361	EMC10	OMIM:619264
HP:0031797	Clinical course	4689	NCF4	OMIM:613960
HP:0031797	Clinical course	7424	VEGFC	OMIM:615907
HP:0031797	Clinical course	79083	MLPH	OMIM:609227
HP:0031797	Clinical course	10461	MERTK	OMIM:613862
HP:0031797	Clinical course	645104	CLRN2	OMIM:619174
HP:0031797	Clinical course	2483	FRG1	OMIM:158900
HP:0031797	Clinical course	3952	LEP	OMIM:614962
HP:0031797	Clinical course	1678	TIMM8A	OMIM:304700
HP:0031797	Clinical course	80856	LNPK	OMIM:618090
HP:0031797	Clinical course	7374	UNG	OMIM:608106
HP:0031797	Clinical course	633	BGN	OMIM:300106
HP:0031797	Clinical course	3425	IDUA	OMIM:607015
HP:0031797	Clinical course	3035	HARS1	OMIM:614504
HP:0031797	Clinical course	643226	GRXCR2	OMIM:615837
HP:0031797	Clinical course	8379	MAD1L1	OMIM:620189
HP:0031797	Clinical course	85452	CFAP74	OMIM:620197
HP:0031797	Clinical course	8242	KDM5C	OMIM:300534
HP:0031797	Clinical course	1374	CPT1A	OMIM:255120
HP:0031797	Clinical course	4942	OAT	OMIM:258870
HP:0031797	Clinical course	2245	FGD1	OMIM:305400
HP:0031797	Clinical course	80184	CEP290	OMIM:610189
HP:0031797	Clinical course	406960	MIR184	OMIM:614303
HP:0031797	Clinical course	4487	MSX1	OMIM:106600
HP:0031797	Clinical course	546	ATRX	OMIM:301040
HP:0031797	Clinical course	57379	AICDA	OMIM:605258
HP:0031797	Clinical course	84816	RTN4IP1	OMIM:616732
HP:0031797	Clinical course	123041	SLC24A4	OMIM:615887
HP:0031797	Clinical course	10235	RASGRP2	OMIM:615888
HP:0031797	Clinical course	90161	HS6ST2	OMIM:301025
HP:0031797	Clinical course	6638	SNRPN	OMIM:209850
HP:0031797	Clinical course	931	MS4A1	OMIM:613495
HP:0031797	Clinical course	131669	UROC1	OMIM:276880
HP:0031797	Clinical course	3514	IGKC	OMIM:614102
HP:0031797	Clinical course	23204	ARL6IP1	OMIM:615685
HP:0031797	Clinical course	50615	IL21R	OMIM:615207
HP:0031797	Clinical course	9371	KIF3B	OMIM:618955
HP:0031797	Clinical course	7991	TUSC3	OMIM:611093
HP:0031797	Clinical course	112752	IFT43	OMIM:617871
HP:0031797	Clinical course	2182	ACSL4	OMIM:300387
HP:0031797	Clinical course	83452	RAB33B	OMIM:615222
HP:0031797	Clinical course	22948	CCT5	OMIM:256840
HP:0031797	Clinical course	6891	TAP2	OMIM:620813
HP:0031797	Clinical course	8029	CUBN	OMIM:261100
HP:0031797	Clinical course	60684	TRAPPC11	OMIM:615356
HP:0031797	Clinical course	7552	ZNF711	OMIM:300803
HP:0031797	Clinical course	8842	PROM1	OMIM:612095
HP:0031797	Clinical course	375790	AGRN	OMIM:615120
HP:0031797	Clinical course	25959	KANK2	OMIM:617783
HP:0031797	Clinical course	81575	APOLD1	OMIM:620715
HP:0031797	Clinical course	472	ATM	OMIM:208900
HP:0031797	Clinical course	81693	AMN	OMIM:618882
HP:0031797	Clinical course	80153	EDC3	OMIM:616460
HP:0031797	Clinical course	1298	COL9A2	OMIM:614284
HP:0031797	Clinical course	1298	COL9A2	OMIM:600204
HP:0031797	Clinical course	27151	CPAMD8	OMIM:617319
HP:0031797	Clinical course	861	RUNX1	OMIM:601399
HP:0031797	Clinical course	55214	P3H2	OMIM:614292
HP:0031797	Clinical course	5950	RBP4	OMIM:615147
HP:0031797	Clinical course	339983	NAT8L	OMIM:614063
HP:0031797	Clinical course	391356	PTRHD1	OMIM:620747
HP:0031797	Clinical course	84062	DTNBP1	OMIM:614076
HP:0031797	Clinical course	5335	PLCG1	OMIM:620514
HP:0031797	Clinical course	2742	GLRA2	OMIM:301076
HP:0031797	Clinical course	84695	LOXL3	OMIM:619781
HP:0031797	Clinical course	1337	COX6A1	OMIM:616039
HP:0031797	Clinical course	29127	RACGAP1	OMIM:619789
HP:0031797	Clinical course	23111	SPART	OMIM:275900
HP:0031797	Clinical course	2235	FECH	OMIM:177000
HP:0031797	Clinical course	53405	CLIC5	OMIM:616042
HP:0031797	Clinical course	9785	DHX38	OMIM:618220
HP:0031797	Clinical course	2048	EPHB2	OMIM:618462
HP:0031797	Clinical course	203547	VMA21	OMIM:310440
HP:0031797	Clinical course	23102	TBC1D2B	OMIM:619323
HP:0031797	Clinical course	729920	CRPPA	OMIM:616052
HP:0031797	Clinical course	362	AQP5	OMIM:600231
HP:0031797	Clinical course	80224	NUBPL	OMIM:618242
HP:0031797	Clinical course	713	C1QB	OMIM:620321
HP:0031797	Clinical course	444	ASPH	OMIM:601552
HP:0031797	Clinical course	55814	BDP1	OMIM:618257
HP:0031797	Clinical course	5283	PIGH	OMIM:618010
HP:0031797	Clinical course	390594	KBTBD13	OMIM:609273
HP:0031797	Clinical course	1200	TPP1	OMIM:609270
HP:0031797	Clinical course	5158	PDE6B	OMIM:613801
HP:0031797	Clinical course	145226	RDH12	OMIM:612712
HP:0031797	Clinical course	28982	FLVCR1	OMIM:609033
HP:0031797	Clinical course	1300	COL10A1	OMIM:156500
HP:0031797	Clinical course	388531	RGS9BP	OMIM:620344
HP:0031797	Clinical course	2312	FLG	OMIM:146700
HP:0031797	Clinical course	2916	GRM6	OMIM:257270
HP:0031797	Clinical course	8701	DNAH11	OMIM:611884
HP:0031797	Clinical course	9187	SLC24A1	OMIM:613830
HP:0031797	Clinical course	7388	UQCRH	OMIM:620137
HP:0031797	Clinical course	6584	SLC22A5	OMIM:212140
HP:0031797	Clinical course	7109	TRAPPC10	OMIM:620027
HP:0031797	Clinical course	3291	HSD11B2	OMIM:218030
HP:0031797	Clinical course	49855	SCAPER	OMIM:618195
HP:0031797	Clinical course	221421	RSPH9	OMIM:612650
HP:0031797	Clinical course	51324	SPG21	OMIM:248900
HP:0031797	Clinical course	1137	CHRNA4	OMIM:600513
HP:0031797	Clinical course	340024	SLC6A19	OMIM:234500
HP:0031797	Clinical course	7187	TRAF3	OMIM:614849
HP:0031797	Clinical course	84334	COA8	OMIM:619061
HP:0031797	Clinical course	148022	TICAM1	OMIM:614850
HP:0031797	Clinical course	338328	GPIHBP1	OMIM:615947
HP:0031797	Clinical course	121512	FGD4	OMIM:609311
HP:0031797	Clinical course	1576	CYP3A4	OMIM:619073
HP:0031797	Clinical course	1267	CNP	OMIM:619071
HP:0031797	Clinical course	83394	PITPNM3	OMIM:600977
HP:0031797	Clinical course	57709	SLC7A14	OMIM:615725
HP:0031797	Clinical course	54862	CC2D1A	OMIM:608443
HP:0031797	Clinical course	9180	OSMR	OMIM:105250
HP:0031797	Clinical course	11152	WDR45	OMIM:300894
HP:0031797	Clinical course	11117	EMILIN1	OMIM:620080
HP:0031797	Clinical course	5122	PCSK1	OMIM:600955
HP:0031797	Clinical course	5194	PEX13	OMIM:614885
HP:0031797	Clinical course	54413	NLGN3	OMIM:300425
HP:0031797	Clinical course	23590	PDSS1	OMIM:614651
HP:0031797	Clinical course	6307	MSMO1	OMIM:616834
HP:0031797	Clinical course	1261	CNGA3	OMIM:216900
HP:0031797	Clinical course	54808	DYM	OMIM:607326
HP:0031797	Clinical course	54808	DYM	OMIM:223800
HP:0031797	Clinical course	147495	APCDD1	OMIM:605389
HP:0031797	Clinical course	8787	RGS9	OMIM:608415
HP:0031797	Clinical course	5148	PDE6G	OMIM:613582
HP:0031797	Clinical course	4297	KMT2A	OMIM:605130
HP:0031797	Clinical course	8671	SLC4A4	OMIM:604278
HP:0031797	Clinical course	175	AGA	OMIM:208400
HP:0031797	Clinical course	93986	FOXP2	OMIM:602081
HP:0031797	Clinical course	51002	TPRKB	OMIM:617731
HP:0031797	Clinical course	255928	SYT14	OMIM:614229
HP:0031797	Clinical course	128178	EDARADD	OMIM:224900
HP:0031797	Clinical course	10913	EDAR	OMIM:224900
HP:0031797	Clinical course	629	CFB	OMIM:615561
HP:0031797	Clinical course	1314	COPA	OMIM:616414
HP:0031797	Clinical course	6569	SLC34A1	OMIM:613388
HP:0031797	Clinical course	57502	NLGN4X	OMIM:300495
HP:0031797	Clinical course	4791	NFKB2	OMIM:615577
HP:0031797	Clinical course	8815	BANF1	OMIM:614008
HP:0031797	Clinical course	7508	XPC	OMIM:278720
HP:0031797	Clinical course	1478	CSTF2	OMIM:301116
HP:0031797	Clinical course	10369	CACNG2	OMIM:614256
HP:0031797	Clinical course	5265	SERPINA1	OMIM:613490
HP:0031797	Clinical course	2100	ESR2	OMIM:618187
HP:0031797	Clinical course	3972	LHB	OMIM:228300
HP:0031797	Clinical course	3630	INS	OMIM:125852
HP:0031797	Clinical course	10371	SEMA3A	OMIM:614897
HP:0031797	Clinical course	6640	SNTA1	OMIM:612955
HP:0031797	Clinical course	2022	ENG	OMIM:187300
HP:0031797	Clinical course	2624	GATA2	OMIM:614172
HP:0031797	Clinical course	116085	SLC22A12	OMIM:220150
HP:0031797	Clinical course	1593	CYP27A1	OMIM:213700
HP:0031797	Clinical course	5961	PRPH2	OMIM:608161
HP:0031797	Clinical course	4921	DDR2	OMIM:271665
HP:0031797	Clinical course	65992	DDRGK1	OMIM:602557
HP:0031797	Clinical course	3376	IARS1	OMIM:617093
HP:0031797	Clinical course	100128927	ZBTB42	OMIM:616248
HP:0031797	Clinical course	1317	SLC31A1	OMIM:620306
HP:0031797	Clinical course	55329	MNS1	OMIM:618948
HP:0031797	Clinical course	347734	SLC35B2	OMIM:620269
HP:0031797	Clinical course	148867	SLC30A7	OMIM:620501
HP:0031797	Clinical course	8854	ALDH1A2	OMIM:620025
HP:0031797	Clinical course	5745	PTH1R	OMIM:215045
HP:0031797	Clinical course	80114	BICC1	OMIM:601331
HP:0031797	Clinical course	9871	SEC24D	OMIM:616294
HP:0031797	Clinical course	219854	TMEM218	OMIM:619562
HP:0031797	Clinical course	26281	FGF20	OMIM:615721
HP:0031797	Clinical course	51163	DBR1	OMIM:620510
HP:0031797	Clinical course	6263	RYR3	OMIM:620310
HP:0031797	Clinical course	1759	DNM1	OMIM:620352
HP:0031797	Clinical course	4718	NDUFC2	OMIM:619170
HP:0031797	Clinical course	3190	HNRNPK	OMIM:616580
HP:0031797	Clinical course	4709	NDUFB3	OMIM:618246
HP:0031797	Clinical course	10491	CRTAP	OMIM:610682
HP:0031797	Clinical course	6550	SLC9A3	OMIM:616868
HP:0031797	Clinical course	51294	PCDH12	OMIM:251280
HP:0031797	Clinical course	55901	THSD1	OMIM:620244
HP:0031797	Clinical course	54361	WNT4	OMIM:611812
HP:0031797	Clinical course	701	BUB1B	OMIM:257300
HP:0031797	Clinical course	222663	SCUBE3	OMIM:619184
HP:0031797	Clinical course	51626	DYNC2LI1	OMIM:617088
HP:0031797	Clinical course	7156	TOP3A	OMIM:618097
HP:0031797	Clinical course	56603	CYP26B1	OMIM:614416
HP:0031797	Clinical course	2752	GLUL	OMIM:610015
HP:0031797	Clinical course	5297	PI4KA	OMIM:619708
HP:0031797	Clinical course	593	BCKDHA	OMIM:248600
HP:0031797	Clinical course	135	ADORA2A	ORPHA:363549
HP:0031797	Clinical course	6154	RPL26	OMIM:614900
HP:0031797	Clinical course	57211	ADGRG6	OMIM:616503
HP:0031797	Clinical course	6616	SNAP25	OMIM:616330
HP:0031797	Clinical course	9837	GINS1	OMIM:617827
HP:0031797	Clinical course	11041	B4GAT1	OMIM:615287
HP:0031797	Clinical course	2271	FH	OMIM:606812
HP:0031797	Clinical course	83871	RAB34	OMIM:620718
HP:0031797	Clinical course	3897	L1CAM	OMIM:304100
HP:0031797	Clinical course	4713	NDUFB7	OMIM:620135
HP:0031797	Clinical course	168667	BMPER	OMIM:608022
HP:0031797	Clinical course	27183	VPS4A	OMIM:619273
HP:0031797	Clinical course	1471	CST3	ORPHA:100008
HP:0031797	Clinical course	6804	STX1A	ORPHA:904
HP:0031797	Clinical course	7461	CLIP2	ORPHA:904
HP:0031797	Clinical course	5982	RFC2	ORPHA:904
HP:0031797	Clinical course	2969	GTF2I	ORPHA:904
HP:0031797	Clinical course	3984	LIMK1	ORPHA:904
HP:0031797	Clinical course	9569	GTF2IRD1	ORPHA:904
HP:0031797	Clinical course	155382	VPS37D	ORPHA:904
HP:0031797	Clinical course	155368	METTL27	ORPHA:904
HP:0031797	Clinical course	114049	BUD23	ORPHA:904
HP:0031797	Clinical course	7458	EIF4H	ORPHA:904
HP:0031797	Clinical course	84163	GTF2IRD2	ORPHA:904
HP:0031797	Clinical course	26608	TBL2	ORPHA:904
HP:0031797	Clinical course	135886	TMEM270	ORPHA:904
HP:0031797	Clinical course	9031	BAZ1B	ORPHA:904
HP:0031797	Clinical course	79639	TMEM53	OMIM:619727
HP:0031797	Clinical course	83959	SLC4A11	OMIM:217400
HP:0100632	Pulmonary sequestration	56980	PRDM10	ORPHA:122
HP:0100632	Pulmonary sequestration	201163	FLCN	ORPHA:122
HP:0100632	Pulmonary sequestration	7490	WT1	ORPHA:3097
HP:0100632	Pulmonary sequestration	1523	CUX1	OMIM:618330
HP:0031798	Elevated circulating apolipoprotein B concentration	4023	LPL	OMIM:144250
HP:0010963	Absence of stomach bubble on fetal sonography	100128927	ZBTB42	OMIM:616248
HP:0010963	Absence of stomach bubble on fetal sonography	4927	NUP88	OMIM:618393
HP:0010963	Absence of stomach bubble on fetal sonography	9321	TRIP11	OMIM:200600
HP:0010963	Absence of stomach bubble on fetal sonography	57211	ADGRG6	OMIM:616503
HP:0010963	Absence of stomach bubble on fetal sonography	7547	ZIC3	OMIM:314390
HP:0010963	Absence of stomach bubble on fetal sonography	2187	FANCB	OMIM:314390
HP:0010963	Absence of stomach bubble on fetal sonography	26153	KIF26A	OMIM:620156
HP:0010964	Abnormal circulating long-chain fatty-acid concentration	5830	PEX5	OMIM:202370
HP:0010964	Abnormal circulating long-chain fatty-acid concentration	5830	PEX5	OMIM:214110
HP:0010964	Abnormal circulating long-chain fatty-acid concentration	1376	CPT2	OMIM:608836
HP:0010964	Abnormal circulating long-chain fatty-acid concentration	1376	CPT2	ORPHA:228302
HP:0010964	Abnormal circulating long-chain fatty-acid concentration	215	ABCD1	OMIM:300100
HP:0010964	Abnormal circulating long-chain fatty-acid concentration	5824	PEX19	OMIM:614886
HP:0010964	Abnormal circulating long-chain fatty-acid concentration	5189	PEX1	OMIM:214100
HP:0010964	Abnormal circulating long-chain fatty-acid concentration	55670	PEX26	ORPHA:772
HP:0010964	Abnormal circulating long-chain fatty-acid concentration	5828	PEX2	ORPHA:772
HP:0010964	Abnormal circulating long-chain fatty-acid concentration	5828	PEX2	OMIM:614866
HP:0010964	Abnormal circulating long-chain fatty-acid concentration	5828	PEX2	OMIM:614867
HP:0010964	Abnormal circulating long-chain fatty-acid concentration	8504	PEX3	ORPHA:772
HP:0010964	Abnormal circulating long-chain fatty-acid concentration	9409	PEX16	ORPHA:772
HP:0010964	Abnormal circulating long-chain fatty-acid concentration	9409	PEX16	OMIM:614877
HP:0010964	Abnormal circulating long-chain fatty-acid concentration	5190	PEX6	ORPHA:772
HP:0010964	Abnormal circulating long-chain fatty-acid concentration	8799	PEX11B	ORPHA:772
HP:0010964	Abnormal circulating long-chain fatty-acid concentration	5193	PEX12	ORPHA:772
HP:0010964	Abnormal circulating long-chain fatty-acid concentration	5193	PEX12	OMIM:266510
HP:0010964	Abnormal circulating long-chain fatty-acid concentration	5194	PEX13	ORPHA:772
HP:0010964	Abnormal circulating long-chain fatty-acid concentration	5195	PEX14	ORPHA:772
HP:0010964	Abnormal circulating long-chain fatty-acid concentration	23600	AMACR	OMIM:614307
HP:0010964	Abnormal circulating long-chain fatty-acid concentration	5191	PEX7	OMIM:614879
HP:0010964	Abnormal circulating long-chain fatty-acid concentration	5191	PEX7	OMIM:266500
HP:0010964	Abnormal circulating long-chain fatty-acid concentration	5191	PEX7	OMIM:215100
HP:0010964	Abnormal circulating long-chain fatty-acid concentration	5264	PHYH	OMIM:266500
HP:0010964	Abnormal circulating long-chain fatty-acid concentration	5192	PEX10	ORPHA:247815
HP:0010964	Abnormal circulating long-chain fatty-acid concentration	6342	SCP2	OMIM:613724
HP:0010965	Abnormal circulating phytanic acid concentration	55670	PEX26	ORPHA:772
HP:0010965	Abnormal circulating phytanic acid concentration	5824	PEX19	ORPHA:772
HP:0010965	Abnormal circulating phytanic acid concentration	5828	PEX2	ORPHA:772
HP:0010965	Abnormal circulating phytanic acid concentration	5828	PEX2	OMIM:614866
HP:0010965	Abnormal circulating phytanic acid concentration	5828	PEX2	OMIM:614867
HP:0010965	Abnormal circulating phytanic acid concentration	8504	PEX3	ORPHA:772
HP:0010965	Abnormal circulating phytanic acid concentration	9409	PEX16	ORPHA:772
HP:0010965	Abnormal circulating phytanic acid concentration	9409	PEX16	OMIM:614877
HP:0010965	Abnormal circulating phytanic acid concentration	5190	PEX6	ORPHA:772
HP:0010965	Abnormal circulating phytanic acid concentration	8799	PEX11B	ORPHA:772
HP:0010965	Abnormal circulating phytanic acid concentration	5830	PEX5	ORPHA:772
HP:0010965	Abnormal circulating phytanic acid concentration	5189	PEX1	ORPHA:772
HP:0010965	Abnormal circulating phytanic acid concentration	5193	PEX12	ORPHA:772
HP:0010965	Abnormal circulating phytanic acid concentration	5193	PEX12	OMIM:266510
HP:0010965	Abnormal circulating phytanic acid concentration	5194	PEX13	ORPHA:772
HP:0010965	Abnormal circulating phytanic acid concentration	5195	PEX14	ORPHA:772
HP:0010965	Abnormal circulating phytanic acid concentration	23600	AMACR	OMIM:614307
HP:0010965	Abnormal circulating phytanic acid concentration	5191	PEX7	OMIM:614879
HP:0010965	Abnormal circulating phytanic acid concentration	5191	PEX7	OMIM:266500
HP:0010965	Abnormal circulating phytanic acid concentration	5191	PEX7	OMIM:215100
HP:0010965	Abnormal circulating phytanic acid concentration	5264	PHYH	OMIM:266500
HP:0010965	Abnormal circulating phytanic acid concentration	5192	PEX10	ORPHA:247815
HP:0010966	Abnormal circulating fatty-acid anion concentration	1497	CTNS	OMIM:219800
HP:0010966	Abnormal circulating fatty-acid anion concentration	1738	DLD	ORPHA:2394
HP:0010966	Abnormal circulating fatty-acid anion concentration	3155	HMGCL	OMIM:246450
HP:0010966	Abnormal circulating fatty-acid anion concentration	4556	MT-TE	ORPHA:254864
HP:0010966	Abnormal circulating fatty-acid anion concentration	55687	TRMU	ORPHA:254864
HP:0010966	Abnormal circulating fatty-acid anion concentration	37	ACADVL	OMIM:201475
HP:0010966	Abnormal circulating fatty-acid anion concentration	4695	NDUFA2	OMIM:618235
HP:0010966	Abnormal circulating fatty-acid anion concentration	34	ACADM	OMIM:201450
HP:0010966	Abnormal circulating fatty-acid anion concentration	1294	COL7A1	ORPHA:89842
HP:0010966	Abnormal circulating fatty-acid anion concentration	27034	ACAD8	OMIM:611283
HP:0010966	Abnormal circulating fatty-acid anion concentration	27034	ACAD8	ORPHA:79159
HP:0010966	Abnormal circulating fatty-acid anion concentration	28976	ACAD9	ORPHA:99901
HP:0010966	Abnormal circulating fatty-acid anion concentration	64087	MCCC2	OMIM:210210
HP:0010966	Abnormal circulating fatty-acid anion concentration	788	SLC25A20	ORPHA:159
HP:0010966	Abnormal circulating fatty-acid anion concentration	1962	EHHADH	ORPHA:3337
HP:0010966	Abnormal circulating fatty-acid anion concentration	2628	GATM	ORPHA:3337
HP:0010966	Abnormal circulating fatty-acid anion concentration	137682	NDUFAF6	ORPHA:3337
HP:0010966	Abnormal circulating fatty-acid anion concentration	6569	SLC34A1	ORPHA:3337
HP:0010966	Abnormal circulating fatty-acid anion concentration	6584	SLC22A5	OMIM:212140
HP:0010966	Abnormal circulating fatty-acid anion concentration	6341	SCO1	OMIM:619048
HP:0010966	Abnormal circulating fatty-acid anion concentration	133686	NADK2	ORPHA:431361
HP:0010966	Abnormal circulating fatty-acid anion concentration	4312	MMP1	ORPHA:79408
HP:0010966	Abnormal circulating fatty-acid anion concentration	283209	PGM2L1	OMIM:620191
HP:0010966	Abnormal circulating fatty-acid anion concentration	3033	HADH	ORPHA:71212
HP:0010966	Abnormal circulating fatty-acid anion concentration	84033	OBSCN	OMIM:620235
HP:0010966	Abnormal circulating fatty-acid anion concentration	84896	ATAD1	OMIM:618011
HP:0010966	Abnormal circulating fatty-acid anion concentration	25974	MMACHC	ORPHA:79282
HP:0010966	Abnormal circulating fatty-acid anion concentration	84693	MCEE	OMIM:251120
HP:0010966	Abnormal circulating fatty-acid anion concentration	2639	GCDH	OMIM:231670
HP:0010966	Abnormal circulating fatty-acid anion concentration	55788	LMBRD1	OMIM:277380
HP:0010966	Abnormal circulating fatty-acid anion concentration	5826	ABCD4	OMIM:614857
HP:0010966	Abnormal circulating fatty-acid anion concentration	326625	MMAB	OMIM:251110
HP:0010966	Abnormal circulating fatty-acid anion concentration	23474	ETHE1	OMIM:602473
HP:0010966	Abnormal circulating fatty-acid anion concentration	3712	IVD	ORPHA:33
HP:0010966	Abnormal circulating fatty-acid anion concentration	51241	COX16	OMIM:619355
HP:0010966	Abnormal circulating fatty-acid anion concentration	55670	PEX26	OMIM:614872
HP:0010966	Abnormal circulating fatty-acid anion concentration	10059	DNM1L	OMIM:614388
HP:0010966	Abnormal circulating fatty-acid anion concentration	35	ACADS	ORPHA:26792
HP:0010966	Abnormal circulating fatty-acid anion concentration	55065	SLC52A1	OMIM:615026
HP:0010966	Abnormal circulating fatty-acid anion concentration	128989	TANGO2	OMIM:616878
HP:0010966	Abnormal circulating fatty-acid anion concentration	128989	TANGO2	ORPHA:480864
HP:0010966	Abnormal circulating fatty-acid anion concentration	1376	CPT2	ORPHA:228302
HP:0010966	Abnormal circulating fatty-acid anion concentration	1376	CPT2	ORPHA:228305
HP:0010966	Abnormal circulating fatty-acid anion concentration	1376	CPT2	ORPHA:228308
HP:0010966	Abnormal circulating fatty-acid anion concentration	90624	LYRM7	OMIM:615838
HP:0010966	Abnormal circulating fatty-acid anion concentration	3030	HADHA	OMIM:609015
HP:0010967	Abnormal circulating carnitine concentration	1497	CTNS	OMIM:219800
HP:0010967	Abnormal circulating carnitine concentration	1738	DLD	ORPHA:2394
HP:0010967	Abnormal circulating carnitine concentration	3155	HMGCL	OMIM:246450
HP:0010967	Abnormal circulating carnitine concentration	4556	MT-TE	ORPHA:254864
HP:0010967	Abnormal circulating carnitine concentration	55687	TRMU	ORPHA:254864
HP:0010967	Abnormal circulating carnitine concentration	37	ACADVL	OMIM:201475
HP:0010967	Abnormal circulating carnitine concentration	4695	NDUFA2	OMIM:618235
HP:0010967	Abnormal circulating carnitine concentration	34	ACADM	OMIM:201450
HP:0010967	Abnormal circulating carnitine concentration	1294	COL7A1	ORPHA:89842
HP:0010967	Abnormal circulating carnitine concentration	27034	ACAD8	OMIM:611283
HP:0010967	Abnormal circulating carnitine concentration	27034	ACAD8	ORPHA:79159
HP:0010967	Abnormal circulating carnitine concentration	3033	HADH	ORPHA:71212
HP:0010967	Abnormal circulating carnitine concentration	28976	ACAD9	ORPHA:99901
HP:0010967	Abnormal circulating carnitine concentration	64087	MCCC2	OMIM:210210
HP:0010967	Abnormal circulating carnitine concentration	788	SLC25A20	ORPHA:159
HP:0010967	Abnormal circulating carnitine concentration	1962	EHHADH	ORPHA:3337
HP:0010967	Abnormal circulating carnitine concentration	2628	GATM	ORPHA:3337
HP:0010967	Abnormal circulating carnitine concentration	137682	NDUFAF6	ORPHA:3337
HP:0010967	Abnormal circulating carnitine concentration	6569	SLC34A1	ORPHA:3337
HP:0010967	Abnormal circulating carnitine concentration	6584	SLC22A5	OMIM:212140
HP:0010967	Abnormal circulating carnitine concentration	1376	CPT2	OMIM:608836
HP:0010967	Abnormal circulating carnitine concentration	1376	CPT2	ORPHA:228305
HP:0010967	Abnormal circulating carnitine concentration	1376	CPT2	ORPHA:228308
HP:0010967	Abnormal circulating carnitine concentration	6341	SCO1	OMIM:619048
HP:0010967	Abnormal circulating carnitine concentration	133686	NADK2	ORPHA:431361
HP:0010967	Abnormal circulating carnitine concentration	4312	MMP1	ORPHA:79408
HP:0002410	Aqueductal stenosis	7547	ZIC3	OMIM:306955
HP:0002410	Aqueductal stenosis	4763	NF1	OMIM:162200
HP:0002410	Aqueductal stenosis	2263	FGFR2	ORPHA:93260
HP:0002410	Aqueductal stenosis	2263	FGFR2	ORPHA:93258
HP:0002410	Aqueductal stenosis	2263	FGFR2	ORPHA:93259
HP:0002410	Aqueductal stenosis	10262	SF3B4	OMIM:154400
HP:0002410	Aqueductal stenosis	10262	SF3B4	ORPHA:1788
HP:0002410	Aqueductal stenosis	23007	PLCH1	OMIM:619895
HP:0002410	Aqueductal stenosis	1182	CLCN3	OMIM:619512
HP:0002410	Aqueductal stenosis	79989	IFT56	OMIM:619534
HP:0002410	Aqueductal stenosis	25885	POLR1A	OMIM:616462
HP:0002410	Aqueductal stenosis	6091	ROBO1	OMIM:620305
HP:0002410	Aqueductal stenosis	3897	L1CAM	OMIM:307000
HP:0002410	Aqueductal stenosis	3897	L1CAM	ORPHA:2182
HP:0002410	Aqueductal stenosis	2260	FGFR1	ORPHA:93258
HP:0002410	Aqueductal stenosis	6599	SMARCC1	OMIM:620241
HP:0002410	Aqueductal stenosis	9990	SLC12A6	ORPHA:1496
HP:0002410	Aqueductal stenosis	79693	YRDC	ORPHA:2065
HP:0002410	Aqueductal stenosis	51002	TPRKB	ORPHA:2065
HP:0002410	Aqueductal stenosis	84942	WDR73	ORPHA:2065
HP:0002410	Aqueductal stenosis	55644	OSGEP	ORPHA:2065
HP:0002410	Aqueductal stenosis	57122	NUP107	ORPHA:2065
HP:0002410	Aqueductal stenosis	10785	WDR4	ORPHA:2065
HP:0002410	Aqueductal stenosis	55746	NUP133	ORPHA:2065
HP:0002410	Aqueductal stenosis	84520	GON7	ORPHA:2065
HP:0002410	Aqueductal stenosis	112858	TP53RK	ORPHA:2065
HP:0002410	Aqueductal stenosis	8270	LAGE3	ORPHA:2065
HP:0002410	Aqueductal stenosis	8905	AP1S2	OMIM:304340
HP:0002410	Aqueductal stenosis	55636	CHD7	ORPHA:138
HP:0002410	Aqueductal stenosis	9723	SEMA3E	ORPHA:138
HP:0002410	Aqueductal stenosis	29980	DONSON	OMIM:251230
HP:0002410	Aqueductal stenosis	2187	FANCB	ORPHA:3412
HP:0002411	Myokymia	5521	PPP2R2B	OMIM:604326
HP:0002411	Myokymia	111	ADCY5	OMIM:606703
HP:0002411	Myokymia	111	ADCY5	ORPHA:324588
HP:0002411	Myokymia	23400	ATP13A2	ORPHA:513436
HP:0002411	Myokymia	87178	PNPT1	OMIM:608703
HP:0002411	Myokymia	87178	PNPT1	ORPHA:101111
HP:0002411	Myokymia	6712	SPTBN2	OMIM:600224
HP:0002411	Myokymia	215	ABCD1	ORPHA:139396
HP:0002411	Myokymia	5582	PRKCG	OMIM:605361
HP:0002411	Myokymia	487	ATP2A1	OMIM:601003
HP:0002411	Myokymia	3094	HINT1	OMIM:137200
HP:0002411	Myokymia	3094	HINT1	ORPHA:324442
HP:0002411	Myokymia	3736	KCNA1	OMIM:160120
HP:0002411	Myokymia	3736	KCNA1	ORPHA:37612
HP:0002411	Myokymia	2934	GSN	ORPHA:85448
HP:0002411	Myokymia	6647	SOD1	OMIM:618598
HP:0002411	Myokymia	7345	UCHL1	OMIM:615491
HP:0002411	Myokymia	25953	PNKD	OMIM:118800
HP:0002411	Myokymia	22880	MORC2	OMIM:616688
HP:0002411	Myokymia	22880	MORC2	ORPHA:466768
HP:0002411	Myokymia	203190	LGI3	OMIM:620007
HP:0002411	Myokymia	3708	ITPR1	OMIM:117360
HP:0002411	Myokymia	3785	KCNQ2	OMIM:121200
HP:0002411	Myokymia	8913	CACNA1G	ORPHA:458803
HP:0002411	Myokymia	8913	CACNA1G	OMIM:616795
HP:0002411	Myokymia	93627	TBCK	ORPHA:488632
HP:0002411	Myokymia	93627	TBCK	OMIM:616900
HP:0002268	Paroxysmal dystonia	1737	DLAT	OMIM:245348
HP:0002268	Paroxysmal dystonia	1737	DLAT	ORPHA:79244
HP:0002268	Paroxysmal dystonia	1137	CHRNA4	ORPHA:98784
HP:0002268	Paroxysmal dystonia	1135	CHRNA2	ORPHA:98784
HP:0002268	Paroxysmal dystonia	57010	CABP4	ORPHA:98784
HP:0002268	Paroxysmal dystonia	1141	CHRNB2	ORPHA:98784
HP:0002268	Paroxysmal dystonia	57582	KCNT1	ORPHA:98784
HP:0002268	Paroxysmal dystonia	1392	CRH	ORPHA:98784
HP:0002268	Paroxysmal dystonia	9681	DEPDC5	ORPHA:98784
HP:0002268	Paroxysmal dystonia	6513	SLC2A1	OMIM:606777
HP:0002268	Paroxysmal dystonia	23221	RHOBTB2	OMIM:618004
HP:0002268	Paroxysmal dystonia	25953	PNKD	OMIM:118800
HP:0002268	Paroxysmal dystonia	57465	TBC1D24	ORPHA:163727
HP:0002268	Paroxysmal dystonia	57465	TBC1D24	OMIM:608105
HP:0002268	Paroxysmal dystonia	283989	TSEN54	ORPHA:2524
HP:0002268	Paroxysmal dystonia	116461	TSEN15	ORPHA:2524
HP:0002268	Paroxysmal dystonia	79042	TSEN34	ORPHA:2524
HP:0002268	Paroxysmal dystonia	80746	TSEN2	ORPHA:2524
HP:0002268	Paroxysmal dystonia	51091	SEPSECS	ORPHA:2524
HP:0002268	Paroxysmal dystonia	112476	PRRT2	OMIM:128200
HP:0002268	Paroxysmal dystonia	112476	PRRT2	OMIM:602066
HP:0002268	Paroxysmal dystonia	10667	FARS2	ORPHA:466722
HP:0002268	Paroxysmal dystonia	59336	PRDM13	OMIM:619909
HP:0002414	Spina bifida	22827	PUF60	ORPHA:508498
HP:0002414	Spina bifida	64840	PORCN	ORPHA:2092
HP:0002414	Spina bifida	2033	EP300	OMIM:180849
HP:0002414	Spina bifida	1387	CREBBP	OMIM:180849
HP:0002414	Spina bifida	91754	NEK9	ORPHA:64754
HP:0002414	Spina bifida	11198	SUPT16H	OMIM:619480
HP:0002414	Spina bifida	4010	LMX1B	OMIM:161200
HP:0002414	Spina bifida	284058	KANSL1	ORPHA:363965
HP:0002414	Spina bifida	284058	KANSL1	ORPHA:363958
HP:0002414	Spina bifida	6628	SNRPB	ORPHA:1393
HP:0002414	Spina bifida	23524	SRRM2	OMIM:620439
HP:0002414	Spina bifida	30008	EFEMP2	OMIM:614437
HP:0002414	Spina bifida	6662	SOX9	OMIM:114290
HP:0002414	Spina bifida	2316	FLNA	OMIM:304120
HP:0002414	Spina bifida	2187	FANCB	ORPHA:3412
HP:0002414	Spina bifida	2187	FANCB	ORPHA:84
HP:0002414	Spina bifida	5077	PAX3	ORPHA:894
HP:0002414	Spina bifida	5077	PAX3	OMIM:193500
HP:0002414	Spina bifida	4763	NF1	OMIM:162200
HP:0002414	Spina bifida	5290	PIK3CA	ORPHA:140944
HP:0002414	Spina bifida	672	BRCA1	ORPHA:84
HP:0002414	Spina bifida	10459	MAD2L2	ORPHA:84
HP:0002414	Spina bifida	7516	XRCC2	ORPHA:84
HP:0002414	Spina bifida	29089	UBE2T	ORPHA:84
HP:0002414	Spina bifida	675	BRCA2	ORPHA:84
HP:0002414	Spina bifida	55120	FANCL	ORPHA:84
HP:0002414	Spina bifida	2177	FANCD2	ORPHA:84
HP:0002414	Spina bifida	2175	FANCA	ORPHA:84
HP:0002414	Spina bifida	2176	FANCC	ORPHA:84
HP:0002414	Spina bifida	2178	FANCE	ORPHA:84
HP:0002414	Spina bifida	2188	FANCF	ORPHA:84
HP:0002414	Spina bifida	2189	FANCG	ORPHA:84
HP:0002414	Spina bifida	5888	RAD51	ORPHA:84
HP:0002414	Spina bifida	5889	RAD51C	ORPHA:84
HP:0002414	Spina bifida	55159	RFWD3	ORPHA:84
HP:0002414	Spina bifida	83990	BRIP1	ORPHA:84
HP:0002414	Spina bifida	57697	FANCM	ORPHA:84
HP:0002414	Spina bifida	79728	PALB2	ORPHA:84
HP:0002414	Spina bifida	84464	SLX4	ORPHA:84
HP:0002414	Spina bifida	2072	ERCC4	ORPHA:84
HP:0002414	Spina bifida	55215	FANCI	ORPHA:84
HP:0002414	Spina bifida	9939	RBM8A	OMIM:274000
HP:0002414	Spina bifida	1312	COMT	ORPHA:567
HP:0002414	Spina bifida	221037	JMJD1C	ORPHA:567
HP:0002414	Spina bifida	2812	GP1BB	ORPHA:567
HP:0002414	Spina bifida	6239	RREB1	ORPHA:567
HP:0002414	Spina bifida	6899	TBX1	ORPHA:567
HP:0002414	Spina bifida	7290	HIRA	ORPHA:567
HP:0002414	Spina bifida	9632	SEC24C	ORPHA:567
HP:0002414	Spina bifida	7353	UFD1	ORPHA:567
HP:0002414	Spina bifida	421	ARVCF	ORPHA:567
HP:0002414	Spina bifida	3265	HRAS	ORPHA:2874
HP:0002414	Spina bifida	9573	GDF3	ORPHA:2345
HP:0002414	Spina bifida	392255	GDF6	ORPHA:2345
HP:0002414	Spina bifida	4222	MEOX1	ORPHA:2345
HP:0002414	Spina bifida	29968	PSAT1	OMIM:616038
HP:0002414	Spina bifida	55521	TRIM36	OMIM:206500
HP:0002414	Spina bifida	2313	FLI1	ORPHA:2308
HP:0002414	Spina bifida	60386	SLC25A19	ORPHA:99742
HP:0002414	Spina bifida	26227	PHGDH	OMIM:256520
HP:0002414	Spina bifida	5727	PTCH1	OMIM:109400
HP:0002414	Spina bifida	57167	SALL4	ORPHA:233
HP:0002414	Spina bifida	57167	SALL4	OMIM:607323
HP:0002414	Spina bifida	9935	MAFB	ORPHA:233
HP:0002414	Spina bifida	1123	CHN1	ORPHA:233
HP:0002414	Spina bifida	6095	RORA	OMIM:618060
HP:0002414	Spina bifida	3981	LIG4	ORPHA:235
HP:0002414	Spina bifida	54888	NSUN2	ORPHA:235
HP:0002414	Spina bifida	9791	PTDSS1	OMIM:151050
HP:0002414	Spina bifida	9158	FIBP	ORPHA:500095
HP:0002414	Spina bifida	7148	TNXB	ORPHA:230839
HP:0002414	Spina bifida	92002	CCNQ	OMIM:300707
HP:0002414	Spina bifida	5648	MASP1	OMIM:257920
HP:0002414	Spina bifida	5648	MASP1	ORPHA:293843
HP:0002414	Spina bifida	60	ACTB	ORPHA:64755
HP:0002414	Spina bifida	6804	STX1A	ORPHA:904
HP:0002414	Spina bifida	7461	CLIP2	ORPHA:904
HP:0002414	Spina bifida	84277	DNAJC30	ORPHA:904
HP:0002414	Spina bifida	8468	FKBP6	ORPHA:904
HP:0002414	Spina bifida	5982	RFC2	ORPHA:904
HP:0002414	Spina bifida	2969	GTF2I	ORPHA:904
HP:0002414	Spina bifida	3984	LIMK1	ORPHA:904
HP:0002414	Spina bifida	9569	GTF2IRD1	ORPHA:904
HP:0002414	Spina bifida	155382	VPS37D	ORPHA:904
HP:0002414	Spina bifida	155368	METTL27	ORPHA:904
HP:0002414	Spina bifida	114049	BUD23	ORPHA:904
HP:0002414	Spina bifida	7458	EIF4H	ORPHA:904
HP:0002414	Spina bifida	84163	GTF2IRD2	ORPHA:904
HP:0002414	Spina bifida	26608	TBL2	ORPHA:904
HP:0002414	Spina bifida	653361	NCF1	ORPHA:904
HP:0002414	Spina bifida	135886	TMEM270	ORPHA:904
HP:0002414	Spina bifida	9031	BAZ1B	ORPHA:904
HP:0002414	Spina bifida	2006	ELN	ORPHA:904
HP:0002414	Spina bifida	145173	B3GLCT	ORPHA:709
HP:0002414	Spina bifida	7545	ZIC1	OMIM:616602
HP:0002414	Spina bifida	7545	ZIC1	OMIM:618736
HP:0002414	Spina bifida	253738	EBF3	ORPHA:96148
HP:0002414	Spina bifida	6347	CCL2	OMIM:182940
HP:0002414	Spina bifida	81839	VANGL1	OMIM:182940
HP:0002414	Spina bifida	80199	FUZ	OMIM:182940
HP:0002414	Spina bifida	6862	TBXT	OMIM:182940
HP:0002414	Spina bifida	57216	VANGL2	OMIM:182940
HP:0002414	Spina bifida	5781	PTPN11	ORPHA:500
HP:0002414	Spina bifida	5781	PTPN11	OMIM:151100
HP:0002414	Spina bifida	673	BRAF	ORPHA:500
HP:0002414	Spina bifida	5894	RAF1	ORPHA:500
HP:0002414	Spina bifida	526	ATP6V1B2	ORPHA:79500
HP:0002414	Spina bifida	57465	TBC1D24	ORPHA:79500
HP:0002414	Spina bifida	80781	COL18A1	OMIM:267750
HP:0002414	Spina bifida	8517	IKBKG	ORPHA:464
HP:0002414	Spina bifida	1615	DARS1	OMIM:615281
HP:0002414	Spina bifida	51715	RAB23	OMIM:201000
HP:0002414	Spina bifida	51339	DACT1	OMIM:617466
HP:0002414	Spina bifida	3664	IRF6	OMIM:119500
HP:0002414	Spina bifida	6911	TBX6	ORPHA:1797
HP:0002414	Spina bifida	100996717	NOTCH2NLC	ORPHA:2289
HP:0002414	Spina bifida	139285	AMER1	OMIM:300373
HP:0002414	Spina bifida	139285	AMER1	ORPHA:2780
HP:0002414	Spina bifida	4621	MYH3	OMIM:193700
HP:0002414	Spina bifida	4621	MYH3	ORPHA:2990
HP:0002414	Spina bifida	57492	ARID1B	OMIM:135900
HP:0002414	Spina bifida	3756	KCNH1	OMIM:135500
HP:0002414	Spina bifida	650	BMP2	OMIM:617877
HP:0002414	Spina bifida	134701	RIPPLY2	ORPHA:2311
HP:0002414	Spina bifida	10683	DLL3	ORPHA:2311
HP:0002414	Spina bifida	3955	LFNG	ORPHA:2311
HP:0002414	Spina bifida	84667	HES7	ORPHA:2311
HP:0002414	Spina bifida	84667	HES7	OMIM:613686
HP:0002414	Spina bifida	145873	MESP2	ORPHA:2311
HP:0002414	Spina bifida	10584	COLEC10	ORPHA:293843
HP:0002414	Spina bifida	78989	COLEC11	ORPHA:293843
HP:0002414	Spina bifida	9820	CUL7	OMIM:273750
HP:0002414	Spina bifida	6885	MAP3K7	ORPHA:1826
HP:0002414	Spina bifida	1146	CHRNG	ORPHA:2990
HP:0002414	Spina bifida	3166	HMX1	OMIM:612109
HP:0002414	Spina bifida	147372	CCBE1	OMIM:235510
HP:0002414	Spina bifida	6223	RPS19	OMIM:105650
HP:0002414	Spina bifida	23299	BICD2	OMIM:618291
HP:0002414	Spina bifida	9401	RECQL4	OMIM:218600
HP:0002414	Spina bifida	5422	POLA1	OMIM:301030
HP:0002414	Spina bifida	2317	FLNB	OMIM:150250
HP:0002414	Spina bifida	8621	CDK13	OMIM:617360
HP:0002414	Spina bifida	860	RUNX2	ORPHA:1452
HP:0002414	Spina bifida	51729	WBP11	OMIM:619227
HP:0002414	Spina bifida	1836	SLC26A2	ORPHA:628
HP:0002415	Leukodystrophy	3735	KARS1	OMIM:619196
HP:0002415	Leukodystrophy	5091	PC	OMIM:266150
HP:0002415	Leukodystrophy	55703	POLR3B	OMIM:614381
HP:0002415	Leukodystrophy	55703	POLR3B	OMIM:607694
HP:0002415	Leukodystrophy	54539	NDUFB11	ORPHA:2609
HP:0002415	Leukodystrophy	25915	NDUFAF3	ORPHA:2609
HP:0002415	Leukodystrophy	51103	NDUFAF1	ORPHA:2609
HP:0002415	Leukodystrophy	91942	NDUFAF2	ORPHA:2609
HP:0002415	Leukodystrophy	51300	TIMMDC1	ORPHA:2609
HP:0002415	Leukodystrophy	4716	NDUFB10	ORPHA:2609
HP:0002415	Leukodystrophy	4723	NDUFV1	ORPHA:2609
HP:0002415	Leukodystrophy	4723	NDUFV1	OMIM:618225
HP:0002415	Leukodystrophy	55572	FOXRED1	ORPHA:2609
HP:0002415	Leukodystrophy	284184	NDUFAF8	ORPHA:2609
HP:0002415	Leukodystrophy	55863	TMEM126B	ORPHA:2609
HP:0002415	Leukodystrophy	4535	MT-ND1	ORPHA:2609
HP:0002415	Leukodystrophy	4537	MT-ND3	ORPHA:2609
HP:0002415	Leukodystrophy	4729	NDUFV2	ORPHA:2609
HP:0002415	Leukodystrophy	4694	NDUFA1	ORPHA:2609
HP:0002415	Leukodystrophy	4720	NDUFS2	ORPHA:2609
HP:0002415	Leukodystrophy	4724	NDUFS4	ORPHA:2609
HP:0002415	Leukodystrophy	4724	NDUFS4	OMIM:252010
HP:0002415	Leukodystrophy	4726	NDUFS6	ORPHA:2609
HP:0002415	Leukodystrophy	4728	NDUFS8	ORPHA:2609
HP:0002415	Leukodystrophy	4722	NDUFS3	ORPHA:2609
HP:0002415	Leukodystrophy	79133	NDUFAF5	ORPHA:2609
HP:0002415	Leukodystrophy	126328	NDUFA11	ORPHA:2609
HP:0002415	Leukodystrophy	4709	NDUFB3	ORPHA:2609
HP:0002415	Leukodystrophy	80224	NUBPL	ORPHA:2609
HP:0002415	Leukodystrophy	80224	NUBPL	OMIM:618242
HP:0002415	Leukodystrophy	29078	NDUFAF4	ORPHA:2609
HP:0002415	Leukodystrophy	374291	NDUFS7	ORPHA:2609
HP:0002415	Leukodystrophy	4700	NDUFA6	ORPHA:2609
HP:0002415	Leukodystrophy	4536	MT-ND2	ORPHA:2609
HP:0002415	Leukodystrophy	4719	NDUFS1	ORPHA:2609
HP:0002415	Leukodystrophy	4719	NDUFS1	OMIM:618226
HP:0002415	Leukodystrophy	4715	NDUFB9	ORPHA:2609
HP:0002415	Leukodystrophy	26235	FBXL4	OMIM:615471
HP:0002415	Leukodystrophy	410	ARSA	ORPHA:309256
HP:0002415	Leukodystrophy	410	ARSA	ORPHA:309271
HP:0002415	Leukodystrophy	410	ARSA	ORPHA:309263
HP:0002415	Leukodystrophy	5660	PSAP	ORPHA:309256
HP:0002415	Leukodystrophy	5660	PSAP	ORPHA:309271
HP:0002415	Leukodystrophy	5660	PSAP	ORPHA:309263
HP:0002415	Leukodystrophy	11019	LIAS	OMIM:614462
HP:0002415	Leukodystrophy	84504	NKX6-2	ORPHA:527497
HP:0002415	Leukodystrophy	84504	NKX6-2	OMIM:617560
HP:0002415	Leukodystrophy	51501	HIKESHI	OMIM:616881
HP:0002415	Leukodystrophy	6711	SPTBN1	OMIM:619475
HP:0002415	Leukodystrophy	81689	ISCA1	OMIM:617613
HP:0002415	Leukodystrophy	9255	AIMP1	OMIM:260600
HP:0002415	Leukodystrophy	64857	PLEKHG2	OMIM:616763
HP:0002415	Leukodystrophy	100996717	NOTCH2NLC	OMIM:618866
HP:0002415	Leukodystrophy	347734	SLC35B2	OMIM:620269
HP:0002415	Leukodystrophy	4001	LMNB1	OMIM:169500
HP:0002415	Leukodystrophy	1605	DAG1	ORPHA:370997
HP:0002415	Leukodystrophy	1605	DAG1	OMIM:616538
HP:0002415	Leukodystrophy	11128	POLR3A	ORPHA:447896
HP:0002415	Leukodystrophy	11128	POLR3A	ORPHA:3455
HP:0002415	Leukodystrophy	11128	POLR3A	OMIM:607694
HP:0002415	Leukodystrophy	57165	GJC2	OMIM:608804
HP:0002415	Leukodystrophy	51218	GLRX5	ORPHA:401866
HP:0002415	Leukodystrophy	51218	GLRX5	OMIM:616859
HP:0002415	Leukodystrophy	9533	POLR1C	OMIM:616494
HP:0002415	Leukodystrophy	6567	SLC16A2	OMIM:300523
HP:0002415	Leukodystrophy	5189	PEX1	OMIM:601539
HP:0002415	Leukodystrophy	122961	ISCA2	OMIM:616370
HP:0002415	Leukodystrophy	5192	PEX10	OMIM:614871
HP:0002415	Leukodystrophy	9409	PEX16	OMIM:614877
HP:0002415	Leukodystrophy	1910	EDNRB	OMIM:277580
HP:0002415	Leukodystrophy	7284	TUFM	OMIM:610678
HP:0002415	Leukodystrophy	25885	POLR1A	OMIM:620675
HP:0002415	Leukodystrophy	51	ACOX1	OMIM:264470
HP:0002415	Leukodystrophy	1340	COX6B1	OMIM:619051
HP:0002415	Leukodystrophy	57551	TAOK1	OMIM:619575
HP:0002415	Leukodystrophy	56915	EXOSC5	OMIM:619576
HP:0002415	Leukodystrophy	23250	ATP11A	OMIM:619851
HP:0002415	Leukodystrophy	5917	RARS1	OMIM:616140
HP:0002415	Leukodystrophy	727676	SNORD118	OMIM:614561
HP:0002415	Leukodystrophy	29920	PYCR2	OMIM:616420
HP:0002415	Leukodystrophy	103	ADAR	OMIM:615010
HP:0002415	Leukodystrophy	103	ADAR	ORPHA:51
HP:0002415	Leukodystrophy	200205	IBA57	OMIM:615330
HP:0002415	Leukodystrophy	133686	NADK2	ORPHA:431361
HP:0002415	Leukodystrophy	133686	NADK2	OMIM:616034
HP:0002415	Leukodystrophy	2058	EPRS1	OMIM:617951
HP:0002415	Leukodystrophy	7965	AIMP2	OMIM:618006
HP:0002415	Leukodystrophy	9725	TMEM63A	OMIM:618688
HP:0002415	Leukodystrophy	2074	ERCC6	OMIM:278800
HP:0002415	Leukodystrophy	85021	REPS1	OMIM:617916
HP:0002415	Leukodystrophy	3431	SP110	ORPHA:79124
HP:0002415	Leukodystrophy	79053	ALG8	ORPHA:79325
HP:0002415	Leukodystrophy	6390	SDHB	OMIM:619224
HP:0002415	Leukodystrophy	8789	FBP2	OMIM:619864
HP:0002415	Leukodystrophy	18	ABAT	OMIM:613163
HP:0002415	Leukodystrophy	55331	ACER3	OMIM:617762
HP:0002415	Leukodystrophy	80169	CTC1	OMIM:612199
HP:0002415	Leukodystrophy	54664	TMEM106B	OMIM:617964
HP:0002415	Leukodystrophy	388962	BOLA3	OMIM:614299
HP:0002415	Leukodystrophy	3329	HSPD1	OMIM:612233
HP:0002415	Leukodystrophy	87178	PNPT1	OMIM:614932
HP:0002415	Leukodystrophy	10535	RNASEH2A	OMIM:610333
HP:0002415	Leukodystrophy	10535	RNASEH2A	ORPHA:51
HP:0002415	Leukodystrophy	84668	HYCC1	OMIM:610532
HP:0002415	Leukodystrophy	25939	SAMHD1	OMIM:612952
HP:0002415	Leukodystrophy	25939	SAMHD1	ORPHA:51
HP:0002415	Leukodystrophy	10382	TUBB4A	OMIM:612438
HP:0002415	Leukodystrophy	84153	RNASEH2C	ORPHA:51
HP:0002415	Leukodystrophy	79621	RNASEH2B	ORPHA:51
HP:0002415	Leukodystrophy	11277	TREX1	ORPHA:51
HP:0002415	Leukodystrophy	100147744	RNU7-1	ORPHA:51
HP:0002415	Leukodystrophy	134353	LSM11	ORPHA:51
HP:0002415	Leukodystrophy	64135	IFIH1	ORPHA:51
HP:0002415	Leukodystrophy	5297	PI4KA	OMIM:619708
HP:0002415	Leukodystrophy	84705	GTPBP3	ORPHA:444013
HP:0002415	Leukodystrophy	5354	PLP1	OMIM:312080
HP:0002415	Leukodystrophy	6663	SOX10	ORPHA:163746
HP:0002415	Leukodystrophy	6663	SOX10	OMIM:609136
HP:0002415	Leukodystrophy	55157	DARS2	ORPHA:137898
HP:0002415	Leukodystrophy	79152	FA2H	OMIM:612319
HP:0002415	Leukodystrophy	84334	COA8	OMIM:619061
HP:0002416	Subependymal cysts	10844	TUBGCP2	OMIM:618737
HP:0002416	Subependymal cysts	728294	D2HGDH	OMIM:600721
HP:0002416	Subependymal cysts	8050	PDHX	OMIM:245349
HP:0002416	Subependymal cysts	2752	GLUL	OMIM:610015
HP:0002416	Subependymal cysts	25828	TXN2	OMIM:616811
HP:0002416	Subependymal cysts	25828	TXN2	ORPHA:478029
HP:0002416	Subependymal cysts	23007	PLCH1	OMIM:619895
HP:0002416	Subependymal cysts	64121	RRAGC	OMIM:620609
HP:0002416	Subependymal cysts	5189	PEX1	OMIM:214100
HP:0001250	Seizure	1718	DHCR24	OMIM:602398
HP:0001250	Seizure	1718	DHCR24	ORPHA:35107
HP:0001250	Seizure	3064	HTT	ORPHA:399
HP:0001250	Seizure	3064	HTT	OMIM:617435
HP:0001250	Seizure	3064	HTT	OMIM:143100
HP:0001250	Seizure	3064	HTT	ORPHA:248111
HP:0001250	Seizure	6515	SLC2A3	ORPHA:399
HP:0001250	Seizure	875	CBS	ORPHA:394
HP:0001250	Seizure	875	CBS	OMIM:236200
HP:0001250	Seizure	4524	MTHFR	ORPHA:395
HP:0001250	Seizure	4524	MTHFR	OMIM:236250
HP:0001250	Seizure	23394	ADNP	ORPHA:404448
HP:0001250	Seizure	23394	ADNP	OMIM:615873
HP:0001250	Seizure	51399	TRAPPC4	OMIM:618741
HP:0001250	Seizure	1139	CHRNA7	ORPHA:199318
HP:0001250	Seizure	1139	CHRNA7	OMIM:612001
HP:0001250	Seizure	51569	UFM1	OMIM:617899
HP:0001250	Seizure	1024	CDK8	OMIM:618748
HP:0001250	Seizure	10059	DNM1L	OMIM:614388
HP:0001250	Seizure	10059	DNM1L	ORPHA:330050
HP:0001250	Seizure	10059	DNM1L	ORPHA:98673
HP:0001250	Seizure	7360	UGP2	OMIM:618744
HP:0001250	Seizure	1788	DNMT3A	ORPHA:404443
HP:0001250	Seizure	1788	DNMT3A	OMIM:615879
HP:0001250	Seizure	55209	SETD5	ORPHA:404440
HP:0001250	Seizure	2731	GLDC	OMIM:605899
HP:0001250	Seizure	3909	LAMA3	ORPHA:79404
HP:0001250	Seizure	3918	LAMC2	ORPHA:79404
HP:0001250	Seizure	3914	LAMB3	ORPHA:79404
HP:0001250	Seizure	1729	DIAPH1	ORPHA:477814
HP:0001250	Seizure	1729	DIAPH1	ORPHA:2573
HP:0001250	Seizure	1729	DIAPH1	OMIM:616632
HP:0001250	Seizure	3481	IGF2	ORPHA:231140
HP:0001250	Seizure	283120	H19	ORPHA:231140
HP:0001250	Seizure	2593	GAMT	ORPHA:382
HP:0001250	Seizure	2593	GAMT	OMIM:612736
HP:0001250	Seizure	2737	GLI3	ORPHA:380
HP:0001250	Seizure	2737	GLI3	OMIM:175700
HP:0001250	Seizure	2737	GLI3	OMIM:146510
HP:0001250	Seizure	396	ARHGDIA	OMIM:615244
HP:0001250	Seizure	2348	FOLR1	OMIM:613068
HP:0001250	Seizure	23322	RPGRIP1L	ORPHA:220497
HP:0001250	Seizure	23322	RPGRIP1L	ORPHA:1454
HP:0001250	Seizure	4867	NPHP1	ORPHA:220497
HP:0001250	Seizure	4867	NPHP1	ORPHA:110
HP:0001250	Seizure	65062	TMEM237	ORPHA:220497
HP:0001250	Seizure	65062	TMEM237	ORPHA:2318
HP:0001250	Seizure	65062	TMEM237	ORPHA:475
HP:0001250	Seizure	27245	AHDC1	ORPHA:412069
HP:0001250	Seizure	2137	EXTL3	OMIM:617425
HP:0001250	Seizure	2137	EXTL3	ORPHA:508533
HP:0001250	Seizure	166378	AFG2A	OMIM:616577
HP:0001250	Seizure	166378	AFG2A	ORPHA:457351
HP:0001250	Seizure	84466	MEGF10	OMIM:614399
HP:0001250	Seizure	54806	AHI1	ORPHA:220493
HP:0001250	Seizure	54806	AHI1	ORPHA:475
HP:0001250	Seizure	56623	INPP5E	ORPHA:220493
HP:0001250	Seizure	56623	INPP5E	ORPHA:1454
HP:0001250	Seizure	56623	INPP5E	ORPHA:475
HP:0001250	Seizure	153241	CEP120	ORPHA:220493
HP:0001250	Seizure	153241	CEP120	ORPHA:475
HP:0001250	Seizure	54903	MKS1	ORPHA:220493
HP:0001250	Seizure	54903	MKS1	ORPHA:110
HP:0001250	Seizure	54903	MKS1	ORPHA:475
HP:0001250	Seizure	95681	CEP41	ORPHA:220493
HP:0001250	Seizure	95681	CEP41	ORPHA:475
HP:0001250	Seizure	84197	POMK	OMIM:615249
HP:0001250	Seizure	84197	POMK	ORPHA:370959
HP:0001250	Seizure	84197	POMK	ORPHA:899
HP:0001250	Seizure	1161	ERCC8	OMIM:216400
HP:0001250	Seizure	1161	ERCC8	ORPHA:90324
HP:0001250	Seizure	1161	ERCC8	ORPHA:90321
HP:0001250	Seizure	488	ATP2A2	OMIM:124200
HP:0001250	Seizure	488	ATP2A2	ORPHA:218
HP:0001250	Seizure	317662	FAM149B1	OMIM:618763
HP:0001250	Seizure	317662	FAM149B1	ORPHA:2754
HP:0001250	Seizure	79029	AFG2B	OMIM:619616
HP:0001250	Seizure	79029	AFG2B	OMIM:619615
HP:0001250	Seizure	6573	SLC19A1	OMIM:620603
HP:0001250	Seizure	2261	FGFR3	ORPHA:1860
HP:0001250	Seizure	2261	FGFR3	ORPHA:794
HP:0001250	Seizure	2261	FGFR3	ORPHA:93274
HP:0001250	Seizure	2261	FGFR3	ORPHA:2363
HP:0001250	Seizure	2261	FGFR3	OMIM:616482
HP:0001250	Seizure	2261	FGFR3	OMIM:602849
HP:0001250	Seizure	7436	VLDLR	OMIM:224050
HP:0001250	Seizure	7436	VLDLR	ORPHA:1766
HP:0001250	Seizure	55681	SCYL2	OMIM:618766
HP:0001250	Seizure	5191	PEX7	OMIM:215100
HP:0001250	Seizure	8659	ALDH4A1	OMIM:239510
HP:0001250	Seizure	8659	ALDH4A1	ORPHA:79101
HP:0001250	Seizure	2697	GJA1	ORPHA:2710
HP:0001250	Seizure	2697	GJA1	ORPHA:1010
HP:0001250	Seizure	2697	GJA1	OMIM:164200
HP:0001250	Seizure	4508	MT-ATP6	OMIM:551500
HP:0001250	Seizure	4508	MT-ATP6	ORPHA:644
HP:0001250	Seizure	4508	MT-ATP6	ORPHA:254913
HP:0001250	Seizure	4508	MT-ATP6	ORPHA:255210
HP:0001250	Seizure	9401	RECQL4	OMIM:218600
HP:0001250	Seizure	171023	ASXL1	ORPHA:97297
HP:0001250	Seizure	171023	ASXL1	OMIM:605039
HP:0001250	Seizure	4330	MN1	OMIM:618774
HP:0001250	Seizure	9997	SCO2	OMIM:608908
HP:0001250	Seizure	9997	SCO2	OMIM:604377
HP:0001250	Seizure	5813	PURA	ORPHA:438216
HP:0001250	Seizure	5813	PURA	OMIM:616158
HP:0001250	Seizure	5813	PURA	ORPHA:314655
HP:0001250	Seizure	3340	NDST1	OMIM:616116
HP:0001250	Seizure	284184	NDUFAF8	OMIM:618776
HP:0001250	Seizure	4247	MGAT2	OMIM:212066
HP:0001250	Seizure	4247	MGAT2	ORPHA:79329
HP:0001250	Seizure	54	ACP5	ORPHA:1855
HP:0001250	Seizure	5373	PMM2	OMIM:212065
HP:0001250	Seizure	5373	PMM2	ORPHA:79318
HP:0001250	Seizure	63901	FAM111A	OMIM:602361
HP:0001250	Seizure	63901	FAM111A	OMIM:127000
HP:0001250	Seizure	1499	CTNNB1	ORPHA:54595
HP:0001250	Seizure	1499	CTNNB1	ORPHA:404473
HP:0001250	Seizure	673	BRAF	ORPHA:54595
HP:0001250	Seizure	673	BRAF	ORPHA:626
HP:0001250	Seizure	673	BRAF	OMIM:613707
HP:0001250	Seizure	673	BRAF	OMIM:613706
HP:0001250	Seizure	673	BRAF	OMIM:115150
HP:0001250	Seizure	8398	PLA2G6	ORPHA:199351
HP:0001250	Seizure	8398	PLA2G6	ORPHA:35069
HP:0001250	Seizure	8398	PLA2G6	OMIM:610217
HP:0001250	Seizure	8398	PLA2G6	OMIM:256600
HP:0001250	Seizure	5476	CTSA	ORPHA:351
HP:0001250	Seizure	5476	CTSA	OMIM:256540
HP:0001250	Seizure	55768	NGLY1	OMIM:615273
HP:0001250	Seizure	55621	TRMT1	OMIM:618302
HP:0001250	Seizure	6905	TBCE	OMIM:241410
HP:0001250	Seizure	6905	TBCE	OMIM:244460
HP:0001250	Seizure	6905	TBCE	ORPHA:2323
HP:0001250	Seizure	6905	TBCE	OMIM:617207
HP:0001250	Seizure	6905	TBCE	ORPHA:496756
HP:0001250	Seizure	11277	TREX1	OMIM:192315
HP:0001250	Seizure	11277	TREX1	OMIM:225750
HP:0001250	Seizure	11277	TREX1	ORPHA:51
HP:0001250	Seizure	11277	TREX1	OMIM:152700
HP:0001250	Seizure	11277	TREX1	ORPHA:536
HP:0001250	Seizure	51633	OTUD6B	OMIM:617452
HP:0001250	Seizure	51633	OTUD6B	ORPHA:505237
HP:0001250	Seizure	9636	ISG15	OMIM:616126
HP:0001250	Seizure	5604	MAP2K1	OMIM:615279
HP:0001250	Seizure	2517	FUCA1	ORPHA:349
HP:0001250	Seizure	2517	FUCA1	OMIM:230000
HP:0001250	Seizure	9289	ADGRG1	ORPHA:101070
HP:0001250	Seizure	9289	ADGRG1	OMIM:606854
HP:0001250	Seizure	9289	ADGRG1	ORPHA:98889
HP:0001250	Seizure	9289	ADGRG1	OMIM:615752
HP:0001250	Seizure	5728	PTEN	ORPHA:101070
HP:0001250	Seizure	5728	PTEN	ORPHA:65285
HP:0001250	Seizure	5728	PTEN	ORPHA:210548
HP:0001250	Seizure	5728	PTEN	ORPHA:201
HP:0001250	Seizure	5728	PTEN	OMIM:158350
HP:0001250	Seizure	5728	PTEN	ORPHA:109
HP:0001250	Seizure	2203	FBP1	ORPHA:348
HP:0001250	Seizure	2203	FBP1	OMIM:229700
HP:0001250	Seizure	4598	MVK	ORPHA:343
HP:0001250	Seizure	4598	MVK	ORPHA:29
HP:0001250	Seizure	5727	PTCH1	OMIM:610828
HP:0001250	Seizure	5727	PTCH1	ORPHA:220386
HP:0001250	Seizure	5727	PTCH1	ORPHA:280200
HP:0001250	Seizure	5727	PTCH1	ORPHA:77301
HP:0001250	Seizure	5727	PTCH1	ORPHA:93926
HP:0001250	Seizure	5727	PTCH1	ORPHA:93924
HP:0001250	Seizure	5727	PTCH1	ORPHA:93925
HP:0001250	Seizure	4210	MEFV	ORPHA:342
HP:0001250	Seizure	4210	MEFV	ORPHA:117
HP:0001250	Seizure	2736	GLI2	OMIM:610829
HP:0001250	Seizure	2736	GLI2	ORPHA:95494
HP:0001250	Seizure	2736	GLI2	ORPHA:220386
HP:0001250	Seizure	2736	GLI2	ORPHA:280200
HP:0001250	Seizure	2736	GLI2	ORPHA:93926
HP:0001250	Seizure	2736	GLI2	ORPHA:93924
HP:0001250	Seizure	2736	GLI2	ORPHA:93925
HP:0001250	Seizure	79718	TBL1XR1	OMIM:602342
HP:0001250	Seizure	79718	TBL1XR1	OMIM:616944
HP:0001250	Seizure	3766	KCNJ10	ORPHA:199343
HP:0001250	Seizure	3766	KCNJ10	OMIM:612780
HP:0001250	Seizure	54828	BCAS3	OMIM:619641
HP:0001250	Seizure	1615	DARS1	OMIM:615281
HP:0001250	Seizure	3800	KIF5C	OMIM:615282
HP:0001250	Seizure	5621	PRNP	ORPHA:157941
HP:0001250	Seizure	5621	PRNP	ORPHA:282166
HP:0001250	Seizure	57169	ZNFX1	OMIM:619644
HP:0001250	Seizure	11041	B4GAT1	OMIM:615287
HP:0001250	Seizure	11041	B4GAT1	ORPHA:899
HP:0001250	Seizure	2232	FDXR	ORPHA:543470
HP:0001250	Seizure	7358	UGDH	OMIM:618792
HP:0001250	Seizure	113179	ADAT3	OMIM:615286
HP:0001250	Seizure	113179	ADAT3	ORPHA:363528
HP:0001250	Seizure	1742	DLG4	OMIM:618793
HP:0001250	Seizure	50485	SMARCAL1	ORPHA:1830
HP:0001250	Seizure	56947	MFF	ORPHA:485421
HP:0001250	Seizure	56947	MFF	OMIM:617086
HP:0001250	Seizure	2904	GRIN2B	OMIM:616139
HP:0001250	Seizure	2904	GRIN2B	OMIM:613970
HP:0001250	Seizure	56652	TWNK	OMIM:616138
HP:0001250	Seizure	56652	TWNK	ORPHA:70595
HP:0001250	Seizure	56652	TWNK	OMIM:609286
HP:0001250	Seizure	56652	TWNK	ORPHA:254892
HP:0001250	Seizure	56652	TWNK	OMIM:607459
HP:0001250	Seizure	476	ATP1A1	OMIM:618314
HP:0001250	Seizure	200424	TET3	OMIM:618798
HP:0001250	Seizure	79971	WLS	OMIM:619648
HP:0001250	Seizure	9711	RUBCN	ORPHA:404499
HP:0001250	Seizure	9711	RUBCN	OMIM:615705
HP:0001250	Seizure	10667	FARS2	ORPHA:466722
HP:0001250	Seizure	10667	FARS2	OMIM:614946
HP:0001250	Seizure	57688	ZSWIM6	OMIM:603671
HP:0001250	Seizure	57688	ZSWIM6	ORPHA:1827
HP:0001250	Seizure	51567	TDP2	ORPHA:404493
HP:0001250	Seizure	51567	TDP2	OMIM:616949
HP:0001250	Seizure	90	ACVR1	ORPHA:337
HP:0001250	Seizure	57609	DIP2B	OMIM:136630
HP:0001250	Seizure	4208	MEF2C	ORPHA:228384
HP:0001250	Seizure	4208	MEF2C	OMIM:613443
HP:0001250	Seizure	1436	CSF1R	OMIM:221820
HP:0001250	Seizure	1436	CSF1R	OMIM:618476
HP:0001250	Seizure	775	CACNA1C	OMIM:601005
HP:0001250	Seizure	775	CACNA1C	ORPHA:101016
HP:0001250	Seizure	775	CACNA1C	OMIM:620029
HP:0001250	Seizure	2239	GPC4	ORPHA:373
HP:0001250	Seizure	2719	GPC3	ORPHA:373
HP:0001250	Seizure	55739	NAXD	OMIM:618321
HP:0001250	Seizure	197258	FCSK	OMIM:618324
HP:0001250	Seizure	3423	IDS	OMIM:309900
HP:0001250	Seizure	3423	IDS	ORPHA:217093
HP:0001250	Seizure	3423	IDS	ORPHA:217085
HP:0001250	Seizure	23483	TGDS	OMIM:616145
HP:0001250	Seizure	84168	ANTXR1	OMIM:230740
HP:0001250	Seizure	25836	NIPBL	OMIM:122470
HP:0001250	Seizure	25836	NIPBL	ORPHA:199
HP:0001250	Seizure	23499	MACF1	OMIM:618325
HP:0001250	Seizure	4087	SMAD2	OMIM:619657
HP:0001250	Seizure	2744	GLS	OMIM:618328
HP:0001250	Seizure	4733	DRG1	OMIM:620641
HP:0001250	Seizure	79648	MCPH1	OMIM:251200
HP:0001250	Seizure	2055	CLN8	OMIM:600143
HP:0001250	Seizure	2055	CLN8	ORPHA:1947
HP:0001250	Seizure	2629	GBA1	ORPHA:77261
HP:0001250	Seizure	2629	GBA1	ORPHA:77260
HP:0001250	Seizure	2629	GBA1	ORPHA:85212
HP:0001250	Seizure	2629	GBA1	OMIM:608013
HP:0001250	Seizure	2629	GBA1	OMIM:231005
HP:0001250	Seizure	2629	GBA1	OMIM:230900
HP:0001250	Seizure	1387	CREBBP	OMIM:618332
HP:0001250	Seizure	1387	CREBBP	ORPHA:353281
HP:0001250	Seizure	1387	CREBBP	ORPHA:353277
HP:0001250	Seizure	1387	CREBBP	OMIM:180849
HP:0001250	Seizure	1387	CREBBP	ORPHA:592574
HP:0001250	Seizure	58497	PRUNE1	OMIM:617481
HP:0001250	Seizure	58497	PRUNE1	ORPHA:544469
HP:0001250	Seizure	51693	TRAPPC2L	OMIM:618331
HP:0001250	Seizure	84188	FAR1	OMIM:616154
HP:0001250	Seizure	84188	FAR1	ORPHA:438178
HP:0001250	Seizure	120	ADD3	OMIM:617008
HP:0001250	Seizure	5426	POLE	OMIM:618336
HP:0001250	Seizure	5426	POLE	ORPHA:440437
HP:0001250	Seizure	5910	RAP1GDS1	OMIM:620655
HP:0001250	Seizure	835	CASP2	OMIM:620653
HP:0001250	Seizure	435	ASL	ORPHA:23
HP:0001250	Seizure	435	ASL	OMIM:207900
HP:0001250	Seizure	7291	TWIST1	ORPHA:794
HP:0001250	Seizure	2263	FGFR2	ORPHA:794
HP:0001250	Seizure	2263	FGFR2	ORPHA:93260
HP:0001250	Seizure	2263	FGFR2	ORPHA:93259
HP:0001250	Seizure	2263	FGFR2	ORPHA:2363
HP:0001250	Seizure	2263	FGFR2	OMIM:123500
HP:0001250	Seizure	2639	GCDH	ORPHA:25
HP:0001250	Seizure	2639	GCDH	OMIM:231670
HP:0001250	Seizure	2074	ERCC6	OMIM:133540
HP:0001250	Seizure	2074	ERCC6	ORPHA:1466
HP:0001250	Seizure	2074	ERCC6	ORPHA:90324
HP:0001250	Seizure	2074	ERCC6	ORPHA:90321
HP:0001250	Seizure	2074	ERCC6	OMIM:214150
HP:0001250	Seizure	3155	HMGCL	ORPHA:20
HP:0001250	Seizure	3155	HMGCL	OMIM:246450
HP:0001250	Seizure	6448	SGSH	OMIM:252900
HP:0001250	Seizure	8925	HERC1	OMIM:617011
HP:0001250	Seizure	1281	COL3A1	OMIM:618343
HP:0001250	Seizure	1281	COL3A1	ORPHA:231160
HP:0001250	Seizure	10785	WDR4	OMIM:618346
HP:0001250	Seizure	10785	WDR4	OMIM:618347
HP:0001250	Seizure	10785	WDR4	ORPHA:2065
HP:0001250	Seizure	10564	ARFGEF2	OMIM:608097
HP:0001250	Seizure	2495	FTH1	OMIM:620669
HP:0001250	Seizure	8573	CASK	OMIM:300749
HP:0001250	Seizure	8573	CASK	ORPHA:1934
HP:0001250	Seizure	8573	CASK	OMIM:300422
HP:0001250	Seizure	8573	CASK	ORPHA:163937
HP:0001250	Seizure	1798	DPAGT1	OMIM:608093
HP:0001250	Seizure	1798	DPAGT1	ORPHA:86309
HP:0001250	Seizure	55746	NUP133	OMIM:618349
HP:0001250	Seizure	55746	NUP133	ORPHA:2065
HP:0001250	Seizure	51259	TMEM216	OMIM:608091
HP:0001250	Seizure	51259	TMEM216	ORPHA:2318
HP:0001250	Seizure	51259	TMEM216	ORPHA:2754
HP:0001250	Seizure	51117	COQ4	OMIM:620666
HP:0001250	Seizure	51117	COQ4	OMIM:616276
HP:0001250	Seizure	100033413	SNORD116-1	OMIM:176270
HP:0001250	Seizure	8924	HERC2	OMIM:176270
HP:0001250	Seizure	8924	HERC2	OMIM:615516
HP:0001250	Seizure	23742	NPAP1	OMIM:176270
HP:0001250	Seizure	338433	SNORD115-1	OMIM:176270
HP:0001250	Seizure	54551	MAGEL2	OMIM:176270
HP:0001250	Seizure	54551	MAGEL2	ORPHA:398069
HP:0001250	Seizure	54551	MAGEL2	ORPHA:177904
HP:0001250	Seizure	54551	MAGEL2	ORPHA:177901
HP:0001250	Seizure	54551	MAGEL2	OMIM:615547
HP:0001250	Seizure	54551	MAGEL2	ORPHA:98754
HP:0001250	Seizure	7681	MKRN3	OMIM:176270
HP:0001250	Seizure	145624	PWAR1	OMIM:176270
HP:0001250	Seizure	3653	IPW	OMIM:176270
HP:0001250	Seizure	791114	PWRN1	OMIM:176270
HP:0001250	Seizure	1950	EGF	OMIM:611718
HP:0001250	Seizure	56945	MRPS22	OMIM:611719
HP:0001250	Seizure	5575	PRKAR1B	OMIM:619680
HP:0001250	Seizure	3028	HSD17B10	ORPHA:391457
HP:0001250	Seizure	3028	HSD17B10	ORPHA:391428
HP:0001250	Seizure	3028	HSD17B10	OMIM:300438
HP:0001250	Seizure	10733	PLK4	OMIM:616171
HP:0001250	Seizure	10733	PLK4	ORPHA:2518
HP:0001250	Seizure	3712	IVD	ORPHA:33
HP:0001250	Seizure	3712	IVD	OMIM:243500
HP:0001250	Seizure	23395	LARS2	OMIM:617021
HP:0001250	Seizure	283989	TSEN54	OMIM:225753
HP:0001250	Seizure	283989	TSEN54	OMIM:610204
HP:0001250	Seizure	283989	TSEN54	ORPHA:2524
HP:0001250	Seizure	283989	TSEN54	ORPHA:166063
HP:0001250	Seizure	283989	TSEN54	OMIM:277470
HP:0001250	Seizure	23114	NFASC	OMIM:618356
HP:0001250	Seizure	55182	RNF220	OMIM:619688
HP:0001250	Seizure	6096	RORB	OMIM:618357
HP:0001250	Seizure	116461	TSEN15	OMIM:617026
HP:0001250	Seizure	116461	TSEN15	ORPHA:2524
HP:0001250	Seizure	6492	SIM1	ORPHA:398079
HP:0001250	Seizure	25885	POLR1A	OMIM:620675
HP:0001250	Seizure	25885	POLR1A	OMIM:616462
HP:0001250	Seizure	51114	ZDHHC9	ORPHA:776
HP:0001250	Seizure	65109	UPF3B	ORPHA:776
HP:0001250	Seizure	9968	MED12	ORPHA:776
HP:0001250	Seizure	9968	MED12	OMIM:309520
HP:0001250	Seizure	9968	MED12	OMIM:300895
HP:0001250	Seizure	9968	MED12	ORPHA:93932
HP:0001250	Seizure	9968	MED12	OMIM:305450
HP:0001250	Seizure	3767	KCNJ11	ORPHA:99886
HP:0001250	Seizure	3767	KCNJ11	ORPHA:79644
HP:0001250	Seizure	3767	KCNJ11	ORPHA:79134
HP:0001250	Seizure	346171	ZFP57	ORPHA:99886
HP:0001250	Seizure	57061	HYMAI	ORPHA:99886
HP:0001250	Seizure	6833	ABCC8	ORPHA:99886
HP:0001250	Seizure	6833	ABCC8	OMIM:240800
HP:0001250	Seizure	6833	ABCC8	ORPHA:79134
HP:0001250	Seizure	5325	PLAGL1	ORPHA:99886
HP:0001250	Seizure	4204	MECP2	ORPHA:778
HP:0001250	Seizure	4204	MECP2	OMIM:312750
HP:0001250	Seizure	4204	MECP2	OMIM:300055
HP:0001250	Seizure	4204	MECP2	OMIM:300496
HP:0001250	Seizure	4204	MECP2	ORPHA:536
HP:0001250	Seizure	4204	MECP2	ORPHA:209370
HP:0001250	Seizure	4204	MECP2	ORPHA:3095
HP:0001250	Seizure	4204	MECP2	ORPHA:3077
HP:0001250	Seizure	4204	MECP2	OMIM:300673
HP:0001250	Seizure	4204	MECP2	OMIM:300260
HP:0001250	Seizure	801	CALM1	ORPHA:101016
HP:0001250	Seizure	3753	KCNE1	ORPHA:101016
HP:0001250	Seizure	3753	KCNE1	ORPHA:90647
HP:0001250	Seizure	3762	KCNJ5	ORPHA:101016
HP:0001250	Seizure	3762	KCNJ5	ORPHA:37553
HP:0001250	Seizure	805	CALM2	ORPHA:101016
HP:0001250	Seizure	805	CALM2	OMIM:616249
HP:0001250	Seizure	6910	TBX5	ORPHA:101016
HP:0001250	Seizure	6336	SCN10A	ORPHA:101016
HP:0001250	Seizure	6336	SCN10A	ORPHA:46348
HP:0001250	Seizure	3757	KCNH2	ORPHA:101016
HP:0001250	Seizure	9992	KCNE2	ORPHA:101016
HP:0001250	Seizure	10142	AKAP9	ORPHA:101016
HP:0001250	Seizure	9722	NOS1AP	ORPHA:101016
HP:0001250	Seizure	3784	KCNQ1	ORPHA:101016
HP:0001250	Seizure	3784	KCNQ1	ORPHA:90647
HP:0001250	Seizure	10345	TRDN	ORPHA:101016
HP:0001250	Seizure	10345	TRDN	OMIM:604772
HP:0001250	Seizure	6331	SCN5A	ORPHA:101016
HP:0001250	Seizure	6330	SCN4B	ORPHA:101016
HP:0001250	Seizure	808	CALM3	ORPHA:101016
HP:0001250	Seizure	6640	SNTA1	ORPHA:101016
HP:0001250	Seizure	859	CAV3	ORPHA:101016
HP:0001250	Seizure	287	ANK2	ORPHA:101016
HP:0001250	Seizure	427	ASAH1	ORPHA:333
HP:0001250	Seizure	427	ASAH1	ORPHA:2590
HP:0001250	Seizure	79709	COLGALT1	OMIM:618360
HP:0001250	Seizure	473	RERE	ORPHA:494344
HP:0001250	Seizure	473	RERE	OMIM:616975
HP:0001250	Seizure	473	RERE	ORPHA:1606
HP:0001250	Seizure	55777	MBD5	OMIM:156200
HP:0001250	Seizure	55777	MBD5	ORPHA:228402
HP:0001250	Seizure	486	FXYD2	OMIM:154020
HP:0001250	Seizure	84340	GFM2	ORPHA:565624
HP:0001250	Seizure	10588	MTHFS	OMIM:618367
HP:0001250	Seizure	24140	FTSJ1	OMIM:309549
HP:0001250	Seizure	6601	SMARCC2	OMIM:618362
HP:0001250	Seizure	6601	SMARCC2	ORPHA:1465
HP:0001250	Seizure	92255	LMBRD2	OMIM:619694
HP:0001250	Seizure	6334	SCN8A	OMIM:618364
HP:0001250	Seizure	6334	SCN8A	ORPHA:442835
HP:0001250	Seizure	6334	SCN8A	ORPHA:31709
HP:0001250	Seizure	7157	TP53	OMIM:260500
HP:0001250	Seizure	7157	TP53	ORPHA:2807
HP:0001250	Seizure	3054	HCFC1	OMIM:309541
HP:0001250	Seizure	201163	FLCN	OMIM:610883
HP:0001250	Seizure	819	CAMLG	OMIM:620201
HP:0001250	Seizure	2717	GLA	ORPHA:324
HP:0001250	Seizure	2717	GLA	OMIM:301500
HP:0001250	Seizure	25778	DSTYK	ORPHA:101003
HP:0001250	Seizure	5805	PTS	ORPHA:13
HP:0001250	Seizure	5805	PTS	OMIM:261640
HP:0001250	Seizure	2743	GLRB	ORPHA:3197
HP:0001250	Seizure	2741	GLRA1	ORPHA:3197
HP:0001250	Seizure	2741	GLRA1	OMIM:149400
HP:0001250	Seizure	10243	GPHN	ORPHA:3197
HP:0001250	Seizure	10243	GPHN	OMIM:149400
HP:0001250	Seizure	84896	ATAD1	ORPHA:3197
HP:0001250	Seizure	84896	ATAD1	OMIM:618011
HP:0001250	Seizure	9152	SLC6A5	ORPHA:3197
HP:0001250	Seizure	27316	RBMX	OMIM:309555
HP:0001250	Seizure	27316	RBMX	ORPHA:85286
HP:0001250	Seizure	11342	RNF13	OMIM:618379
HP:0001250	Seizure	11342	RNF13	ORPHA:544503
HP:0001250	Seizure	8802	SUCLG1	ORPHA:17
HP:0001250	Seizure	84705	GTPBP3	OMIM:616198
HP:0001250	Seizure	84705	GTPBP3	ORPHA:444013
HP:0001250	Seizure	6304	SATB1	OMIM:619228
HP:0001250	Seizure	6304	SATB1	OMIM:619229
HP:0001250	Seizure	594	BCKDHB	OMIM:620698
HP:0001250	Seizure	220296	HEPACAM	OMIM:613925
HP:0001250	Seizure	220296	HEPACAM	OMIM:613926
HP:0001250	Seizure	220296	HEPACAM	ORPHA:210548
HP:0001250	Seizure	220296	HEPACAM	OMIM:604004
HP:0001250	Seizure	8883	NAE1	OMIM:620210
HP:0001250	Seizure	4763	NF1	ORPHA:97685
HP:0001250	Seizure	4763	NF1	ORPHA:139474
HP:0001250	Seizure	4763	NF1	ORPHA:363700
HP:0001250	Seizure	4763	NF1	OMIM:162200
HP:0001250	Seizure	26040	SETBP1	ORPHA:798
HP:0001250	Seizure	26040	SETBP1	OMIM:616078
HP:0001250	Seizure	26040	SETBP1	OMIM:269150
HP:0001250	Seizure	83480	PUS3	OMIM:617051
HP:0001250	Seizure	83480	PUS3	ORPHA:488627
HP:0001250	Seizure	9197	SLC33A1	ORPHA:171863
HP:0001250	Seizure	9197	SLC33A1	OMIM:614482
HP:0001250	Seizure	4158	MC2R	OMIM:202200
HP:0001250	Seizure	54809	SAMD9	OMIM:617053
HP:0001250	Seizure	8452	CUL3	OMIM:619239
HP:0001250	Seizure	3032	HADHB	ORPHA:746
HP:0001250	Seizure	3032	HADHB	OMIM:620300
HP:0001250	Seizure	3030	HADHA	ORPHA:746
HP:0001250	Seizure	3030	HADHA	ORPHA:5
HP:0001250	Seizure	2218	FKTN	OMIM:253800
HP:0001250	Seizure	2218	FKTN	ORPHA:272
HP:0001250	Seizure	2218	FKTN	ORPHA:588
HP:0001250	Seizure	2218	FKTN	OMIM:236670
HP:0001250	Seizure	2218	FKTN	ORPHA:899
HP:0001250	Seizure	80184	CEP290	OMIM:611755
HP:0001250	Seizure	80184	CEP290	ORPHA:65
HP:0001250	Seizure	80184	CEP290	ORPHA:2318
HP:0001250	Seizure	80184	CEP290	ORPHA:110
HP:0001250	Seizure	80036	TRPM3	OMIM:620224
HP:0001250	Seizure	4221	MEN1	ORPHA:97279
HP:0001250	Seizure	4221	MEN1	ORPHA:2965
HP:0001250	Seizure	7528	YY1	ORPHA:97279
HP:0001250	Seizure	207	AKT1	ORPHA:744
HP:0001250	Seizure	207	AKT1	ORPHA:201
HP:0001250	Seizure	207	AKT1	ORPHA:2495
HP:0001250	Seizure	207	AKT1	OMIM:615109
HP:0001250	Seizure	162417	NAGS	OMIM:237310
HP:0001250	Seizure	162417	NAGS	ORPHA:927
HP:0001250	Seizure	9829	DNAJC6	ORPHA:391411
HP:0001250	Seizure	9829	DNAJC6	OMIM:615528
HP:0001250	Seizure	5420	PODXL	ORPHA:391411
HP:0001250	Seizure	8867	SYNJ1	ORPHA:391411
HP:0001250	Seizure	8867	SYNJ1	ORPHA:442835
HP:0001250	Seizure	8867	SYNJ1	OMIM:617389
HP:0001250	Seizure	215	ABCD1	ORPHA:369942
HP:0001250	Seizure	215	ABCD1	OMIM:300100
HP:0001250	Seizure	215	ABCD1	ORPHA:139396
HP:0001250	Seizure	10134	BCAP31	ORPHA:369942
HP:0001250	Seizure	10134	BCAP31	OMIM:300475
HP:0001250	Seizure	29925	GMPPB	ORPHA:370959
HP:0001250	Seizure	29925	GMPPB	ORPHA:588
HP:0001250	Seizure	29925	GMPPB	ORPHA:363623
HP:0001250	Seizure	29925	GMPPB	OMIM:615350
HP:0001250	Seizure	29925	GMPPB	OMIM:615351
HP:0001250	Seizure	29925	GMPPB	OMIM:615352
HP:0001250	Seizure	79147	FKRP	ORPHA:370959
HP:0001250	Seizure	79147	FKRP	ORPHA:588
HP:0001250	Seizure	79147	FKRP	OMIM:236670
HP:0001250	Seizure	79147	FKRP	ORPHA:899
HP:0001250	Seizure	29954	POMT2	ORPHA:370959
HP:0001250	Seizure	29954	POMT2	ORPHA:588
HP:0001250	Seizure	29954	POMT2	OMIM:236670
HP:0001250	Seizure	29954	POMT2	ORPHA:899
HP:0001250	Seizure	29954	POMT2	OMIM:613150
HP:0001250	Seizure	55624	POMGNT1	ORPHA:370959
HP:0001250	Seizure	55624	POMGNT1	OMIM:253280
HP:0001250	Seizure	55624	POMGNT1	ORPHA:588
HP:0001250	Seizure	55624	POMGNT1	ORPHA:899
HP:0001250	Seizure	10585	POMT1	ORPHA:370959
HP:0001250	Seizure	10585	POMT1	ORPHA:588
HP:0001250	Seizure	10585	POMT1	OMIM:236670
HP:0001250	Seizure	10585	POMT1	ORPHA:899
HP:0001250	Seizure	51360	MBTPS2	OMIM:308205
HP:0001250	Seizure	51360	MBTPS2	ORPHA:659
HP:0001250	Seizure	51360	MBTPS2	ORPHA:2273
HP:0001250	Seizure	7204	TRIO	OMIM:617061
HP:0001250	Seizure	7204	TRIO	ORPHA:476126
HP:0001250	Seizure	7204	TRIO	OMIM:618825
HP:0001250	Seizure	60558	GUF1	OMIM:617065
HP:0001250	Seizure	57477	SHROOM4	ORPHA:85288
HP:0001250	Seizure	9326	ZNHIT3	OMIM:260565
HP:0001250	Seizure	9326	ZNHIT3	ORPHA:2836
HP:0001250	Seizure	55640	FLVCR2	OMIM:225790
HP:0001250	Seizure	23112	TNRC6B	OMIM:619243
HP:0001250	Seizure	91875	TTC5	OMIM:619244
HP:0001250	Seizure	23096	IQSEC2	OMIM:309530
HP:0001250	Seizure	23096	IQSEC2	ORPHA:819
HP:0001250	Seizure	23096	IQSEC2	ORPHA:397933
HP:0001250	Seizure	23096	IQSEC2	ORPHA:217377
HP:0001250	Seizure	8450	CUL4B	ORPHA:85293
HP:0001250	Seizure	8450	CUL4B	OMIM:300354
HP:0001250	Seizure	6853	SYN1	ORPHA:85294
HP:0001250	Seizure	6853	SYN1	OMIM:300491
HP:0001250	Seizure	5625	PRODH	OMIM:239500
HP:0001250	Seizure	5625	PRODH	ORPHA:419
HP:0001250	Seizure	93587	TRMT10A	ORPHA:391408
HP:0001250	Seizure	93587	TRMT10A	OMIM:616033
HP:0001250	Seizure	84919	PPP1R15B	ORPHA:391408
HP:0001250	Seizure	84919	PPP1R15B	OMIM:616817
HP:0001250	Seizure	2799	GNS	OMIM:252940
HP:0001250	Seizure	55670	PEX26	ORPHA:772
HP:0001250	Seizure	55670	PEX26	ORPHA:44
HP:0001250	Seizure	55670	PEX26	OMIM:614872
HP:0001250	Seizure	55670	PEX26	ORPHA:912
HP:0001250	Seizure	5824	PEX19	ORPHA:772
HP:0001250	Seizure	5824	PEX19	ORPHA:44
HP:0001250	Seizure	5824	PEX19	OMIM:614886
HP:0001250	Seizure	5824	PEX19	ORPHA:912
HP:0001250	Seizure	5828	PEX2	ORPHA:772
HP:0001250	Seizure	5828	PEX2	ORPHA:44
HP:0001250	Seizure	5828	PEX2	OMIM:614866
HP:0001250	Seizure	5828	PEX2	ORPHA:912
HP:0001250	Seizure	8504	PEX3	ORPHA:772
HP:0001250	Seizure	8504	PEX3	ORPHA:44
HP:0001250	Seizure	8504	PEX3	OMIM:614882
HP:0001250	Seizure	8504	PEX3	ORPHA:912
HP:0001250	Seizure	9409	PEX16	ORPHA:772
HP:0001250	Seizure	9409	PEX16	ORPHA:44
HP:0001250	Seizure	9409	PEX16	OMIM:614876
HP:0001250	Seizure	9409	PEX16	ORPHA:912
HP:0001250	Seizure	5190	PEX6	ORPHA:772
HP:0001250	Seizure	5190	PEX6	ORPHA:44
HP:0001250	Seizure	5190	PEX6	OMIM:614862
HP:0001250	Seizure	5190	PEX6	OMIM:614863
HP:0001250	Seizure	5190	PEX6	ORPHA:912
HP:0001250	Seizure	8799	PEX11B	ORPHA:772
HP:0001250	Seizure	8799	PEX11B	ORPHA:44
HP:0001250	Seizure	8799	PEX11B	ORPHA:912
HP:0001250	Seizure	5830	PEX5	ORPHA:772
HP:0001250	Seizure	5830	PEX5	ORPHA:44
HP:0001250	Seizure	5830	PEX5	OMIM:214110
HP:0001250	Seizure	5830	PEX5	OMIM:616716
HP:0001250	Seizure	5830	PEX5	OMIM:202370
HP:0001250	Seizure	5830	PEX5	ORPHA:912
HP:0001250	Seizure	5189	PEX1	ORPHA:772
HP:0001250	Seizure	5189	PEX1	ORPHA:44
HP:0001250	Seizure	5189	PEX1	OMIM:214100
HP:0001250	Seizure	5189	PEX1	OMIM:601539
HP:0001250	Seizure	5189	PEX1	ORPHA:912
HP:0001250	Seizure	5193	PEX12	ORPHA:772
HP:0001250	Seizure	5193	PEX12	ORPHA:44
HP:0001250	Seizure	5193	PEX12	OMIM:614859
HP:0001250	Seizure	5193	PEX12	ORPHA:912
HP:0001250	Seizure	5194	PEX13	ORPHA:772
HP:0001250	Seizure	5194	PEX13	ORPHA:44
HP:0001250	Seizure	5194	PEX13	OMIM:614883
HP:0001250	Seizure	5194	PEX13	ORPHA:912
HP:0001250	Seizure	5195	PEX14	ORPHA:772
HP:0001250	Seizure	5195	PEX14	ORPHA:44
HP:0001250	Seizure	5195	PEX14	OMIM:614887
HP:0001250	Seizure	5195	PEX14	ORPHA:912
HP:0001250	Seizure	5192	PEX10	ORPHA:772
HP:0001250	Seizure	5192	PEX10	ORPHA:44
HP:0001250	Seizure	5192	PEX10	OMIM:614870
HP:0001250	Seizure	5192	PEX10	ORPHA:912
HP:0001250	Seizure	2658	GDF2	ORPHA:774
HP:0001250	Seizure	94	ACVRL1	ORPHA:774
HP:0001250	Seizure	94	ACVRL1	OMIM:600376
HP:0001250	Seizure	4089	SMAD4	ORPHA:774
HP:0001250	Seizure	4089	SMAD4	OMIM:139210
HP:0001250	Seizure	2022	ENG	ORPHA:774
HP:0001250	Seizure	2022	ENG	OMIM:187300
HP:0001250	Seizure	2022	ENG	ORPHA:231160
HP:0001250	Seizure	201595	STT3B	ORPHA:370924
HP:0001250	Seizure	201595	STT3B	OMIM:615597
HP:0001250	Seizure	6748	SSR4	ORPHA:370927
HP:0001250	Seizure	6748	SSR4	OMIM:300934
HP:0001250	Seizure	10084	PQBP1	OMIM:309500
HP:0001250	Seizure	10084	PQBP1	ORPHA:93947
HP:0001250	Seizure	340533	NEXMIF	ORPHA:85277
HP:0001250	Seizure	10479	SLC9A6	ORPHA:85278
HP:0001250	Seizure	10479	SLC9A6	OMIM:300243
HP:0001250	Seizure	8242	KDM5C	ORPHA:85279
HP:0001250	Seizure	8242	KDM5C	OMIM:300534
HP:0001250	Seizure	10273	STUB1	ORPHA:412057
HP:0001250	Seizure	8831	SYNGAP1	OMIM:612621
HP:0001250	Seizure	8831	SYNGAP1	ORPHA:442835
HP:0001250	Seizure	54187	NANS	OMIM:610442
HP:0001250	Seizure	284058	KANSL1	OMIM:610443
HP:0001250	Seizure	284058	KANSL1	ORPHA:363958
HP:0001250	Seizure	284058	KANSL1	ORPHA:363965
HP:0001250	Seizure	1968	EIF2S3	ORPHA:85282
HP:0001250	Seizure	1968	EIF2S3	OMIM:300148
HP:0001250	Seizure	138050	HGSNAT	OMIM:252930
HP:0001250	Seizure	10020	GNE	ORPHA:3166
HP:0001250	Seizure	10020	GNE	OMIM:269921
HP:0001250	Seizure	81615	TMEM163	OMIM:620243
HP:0001250	Seizure	1376	CPT2	ORPHA:228305
HP:0001250	Seizure	1376	CPT2	ORPHA:228308
HP:0001250	Seizure	1376	CPT2	OMIM:600649
HP:0001250	Seizure	1376	CPT2	OMIM:614212
HP:0001250	Seizure	1376	CPT2	OMIM:608836
HP:0001250	Seizure	10079	ATP9A	OMIM:620242
HP:0001250	Seizure	124093	CCDC78	OMIM:614807
HP:0001250	Seizure	5903	RANBP2	OMIM:608033
HP:0001250	Seizure	5903	RANBP2	ORPHA:88619
HP:0001250	Seizure	126129	CPT1C	ORPHA:444099
HP:0001250	Seizure	1893	ECM1	OMIM:247100
HP:0001250	Seizure	1893	ECM1	ORPHA:530
HP:0001250	Seizure	170302	ARX	OMIM:309510
HP:0001250	Seizure	170302	ARX	ORPHA:1934
HP:0001250	Seizure	170302	ARX	OMIM:300004
HP:0001250	Seizure	170302	ARX	OMIM:300419
HP:0001250	Seizure	170302	ARX	ORPHA:2508
HP:0001250	Seizure	170302	ARX	ORPHA:94083
HP:0001250	Seizure	170302	ARX	ORPHA:452
HP:0001250	Seizure	170302	ARX	OMIM:300215
HP:0001250	Seizure	27445	PCLO	OMIM:608027
HP:0001250	Seizure	1373	CPS1	OMIM:237300
HP:0001250	Seizure	1373	CPS1	ORPHA:147
HP:0001250	Seizure	5696	PSMB8	OMIM:256040
HP:0001250	Seizure	4669	NAGLU	OMIM:252920
HP:0001250	Seizure	2260	FGFR1	ORPHA:3157
HP:0001250	Seizure	2260	FGFR1	ORPHA:2396
HP:0001250	Seizure	2260	FGFR1	OMIM:613001
HP:0001250	Seizure	2260	FGFR1	ORPHA:220386
HP:0001250	Seizure	2260	FGFR1	ORPHA:280200
HP:0001250	Seizure	2260	FGFR1	ORPHA:93924
HP:0001250	Seizure	2260	FGFR1	ORPHA:478
HP:0001250	Seizure	128674	PROKR2	ORPHA:3157
HP:0001250	Seizure	128674	PROKR2	ORPHA:95496
HP:0001250	Seizure	128674	PROKR2	OMIM:244200
HP:0001250	Seizure	128674	PROKR2	ORPHA:478
HP:0001250	Seizure	6657	SOX2	ORPHA:3157
HP:0001250	Seizure	6658	SOX3	ORPHA:3157
HP:0001250	Seizure	9915	ARNT2	ORPHA:3157
HP:0001250	Seizure	8820	HESX1	ORPHA:3157
HP:0001250	Seizure	8820	HESX1	ORPHA:95496
HP:0001250	Seizure	8820	HESX1	ORPHA:95494
HP:0001250	Seizure	8820	HESX1	ORPHA:478
HP:0001250	Seizure	5015	OTX2	ORPHA:3157
HP:0001250	Seizure	5015	OTX2	ORPHA:95494
HP:0001250	Seizure	5015	OTX2	OMIM:610125
HP:0001250	Seizure	5015	OTX2	OMIM:613986
HP:0001250	Seizure	283450	HECTD4	OMIM:620250
HP:0001250	Seizure	5138	PDE2A	OMIM:619150
HP:0001250	Seizure	5138	PDE2A	ORPHA:31709
HP:0001250	Seizure	4352	MPL	ORPHA:71493
HP:0001250	Seizure	7066	THPO	ORPHA:71493
HP:0001250	Seizure	3717	JAK2	ORPHA:71493
HP:0001250	Seizure	355	FAS	ORPHA:3261
HP:0001250	Seizure	355	FAS	ORPHA:117
HP:0001250	Seizure	356	FASLG	ORPHA:3261
HP:0001250	Seizure	843	CASP10	ORPHA:3261
HP:0001250	Seizure	6535	SLC6A8	OMIM:300352
HP:0001250	Seizure	6535	SLC6A8	ORPHA:52503
HP:0001250	Seizure	26960	NBEA	OMIM:619157
HP:0001250	Seizure	6309	SC5D	ORPHA:46059
HP:0001250	Seizure	894	CCND2	ORPHA:83473
HP:0001250	Seizure	5296	PIK3R2	ORPHA:83473
HP:0001250	Seizure	5296	PIK3R2	OMIM:603387
HP:0001250	Seizure	10000	AKT3	ORPHA:83473
HP:0001250	Seizure	10000	AKT3	ORPHA:99802
HP:0001250	Seizure	10000	AKT3	OMIM:615937
HP:0001250	Seizure	5885	RAD21	OMIM:614701
HP:0001250	Seizure	5885	RAD21	ORPHA:199
HP:0001250	Seizure	1593	CYP27A1	OMIM:213700
HP:0001250	Seizure	1593	CYP27A1	ORPHA:909
HP:0001250	Seizure	25821	MTO1	OMIM:614702
HP:0001250	Seizure	2896	GRN	OMIM:614706
HP:0001250	Seizure	55775	TDP1	ORPHA:94124
HP:0001250	Seizure	55775	TDP1	OMIM:607250
HP:0001250	Seizure	51816	ADA2	ORPHA:820
HP:0001250	Seizure	51816	ADA2	OMIM:182410
HP:0001250	Seizure	80144	FRAS1	OMIM:219000
HP:0001250	Seizure	5428	POLG	ORPHA:94125
HP:0001250	Seizure	5428	POLG	ORPHA:70595
HP:0001250	Seizure	5428	POLG	ORPHA:254892
HP:0001250	Seizure	5428	POLG	OMIM:613662
HP:0001250	Seizure	5428	POLG	OMIM:607459
HP:0001250	Seizure	64324	NSD1	ORPHA:821
HP:0001250	Seizure	64324	NSD1	OMIM:117550
HP:0001250	Seizure	64324	NSD1	ORPHA:228415
HP:0001250	Seizure	10297	APC2	ORPHA:821
HP:0001250	Seizure	10297	APC2	OMIM:617169
HP:0001250	Seizure	613	BCR	ORPHA:261330
HP:0001250	Seizure	1399	CRKL	ORPHA:261330
HP:0001250	Seizure	5594	MAPK1	ORPHA:261330
HP:0001250	Seizure	6392	SDHD	OMIM:619167
HP:0001250	Seizure	6392	SDHD	ORPHA:3208
HP:0001250	Seizure	6392	SDHD	ORPHA:201
HP:0001250	Seizure	79947	DHDDS	OMIM:613861
HP:0001250	Seizure	79947	DHDDS	ORPHA:442835
HP:0001250	Seizure	9640	ZNF592	ORPHA:83472
HP:0001250	Seizure	84942	WDR73	ORPHA:83472
HP:0001250	Seizure	84942	WDR73	ORPHA:2065
HP:0001250	Seizure	84942	WDR73	OMIM:251300
HP:0001250	Seizure	224	ALDH3A2	ORPHA:816
HP:0001250	Seizure	224	ALDH3A2	OMIM:270200
HP:0001250	Seizure	2314	FLII	ORPHA:819
HP:0001250	Seizure	10743	RAI1	ORPHA:819
HP:0001250	Seizure	10743	RAI1	OMIM:182290
HP:0001250	Seizure	10522	DEAF1	ORPHA:819
HP:0001250	Seizure	10522	DEAF1	ORPHA:468620
HP:0001250	Seizure	1717	DHCR7	ORPHA:818
HP:0001250	Seizure	1717	DHCR7	OMIM:270400
HP:0001250	Seizure	5818	NECTIN1	ORPHA:3253
HP:0001250	Seizure	4758	NEU1	ORPHA:812
HP:0001250	Seizure	4758	NEU1	ORPHA:93399
HP:0001250	Seizure	4758	NEU1	ORPHA:93400
HP:0001250	Seizure	4758	NEU1	OMIM:256550
HP:0001250	Seizure	5290	PIK3CA	ORPHA:99802
HP:0001250	Seizure	5290	PIK3CA	ORPHA:201
HP:0001250	Seizure	5290	PIK3CA	ORPHA:140944
HP:0001250	Seizure	5290	PIK3CA	ORPHA:2495
HP:0001250	Seizure	5290	PIK3CA	OMIM:615108
HP:0001250	Seizure	5290	PIK3CA	ORPHA:144
HP:0001250	Seizure	5290	PIK3CA	OMIM:602501
HP:0001250	Seizure	5290	PIK3CA	ORPHA:221061
HP:0001250	Seizure	2475	MTOR	ORPHA:99802
HP:0001250	Seizure	2475	MTOR	ORPHA:457485
HP:0001250	Seizure	2475	MTOR	OMIM:616638
HP:0001250	Seizure	55780	ERMARD	ORPHA:75857
HP:0001250	Seizure	55780	ERMARD	OMIM:615544
HP:0001250	Seizure	150468	CKAP2L	ORPHA:3255
HP:0001250	Seizure	150468	CKAP2L	OMIM:272440
HP:0001250	Seizure	5979	RET	ORPHA:99803
HP:0001250	Seizure	429	ASCL1	ORPHA:99803
HP:0001250	Seizure	8929	PHOX2B	ORPHA:99803
HP:0001250	Seizure	8929	PHOX2B	ORPHA:661
HP:0001250	Seizure	8929	PHOX2B	ORPHA:2151
HP:0001250	Seizure	29072	SETD2	OMIM:620155
HP:0001250	Seizure	29072	SETD2	OMIM:616831
HP:0001250	Seizure	26153	KIF26A	OMIM:620156
HP:0001250	Seizure	58528	RRAGD	OMIM:620152
HP:0001250	Seizure	1185	CLCN6	OMIM:619173
HP:0001250	Seizure	3735	KARS1	ORPHA:3240
HP:0001250	Seizure	3735	KARS1	OMIM:619147
HP:0001250	Seizure	56992	KIF15	ORPHA:261323
HP:0001250	Seizure	4718	NDUFC2	OMIM:619170
HP:0001250	Seizure	2483	FRG1	OMIM:158900
HP:0001250	Seizure	2483	FRG1	ORPHA:269
HP:0001250	Seizure	1738	DLD	ORPHA:2394
HP:0001250	Seizure	1738	DLD	OMIM:246900
HP:0001250	Seizure	4001	LMNB1	OMIM:619179
HP:0001250	Seizure	55157	DARS2	ORPHA:137898
HP:0001250	Seizure	412	STS	ORPHA:281090
HP:0001250	Seizure	93627	TBCK	OMIM:616900
HP:0001250	Seizure	93627	TBCK	ORPHA:488632
HP:0001250	Seizure	129607	CMPK2	OMIM:621018
HP:0001250	Seizure	3845	KRAS	ORPHA:2396
HP:0001250	Seizure	3845	KRAS	ORPHA:144
HP:0001250	Seizure	3845	KRAS	OMIM:163200
HP:0001250	Seizure	3845	KRAS	ORPHA:2612
HP:0001250	Seizure	3845	KRAS	OMIM:600268
HP:0001250	Seizure	3845	KRAS	OMIM:609942
HP:0001250	Seizure	55858	TMEM165	OMIM:614727
HP:0001250	Seizure	3778	KCNMA1	OMIM:609446
HP:0001250	Seizure	64087	MCCC2	OMIM:210210
HP:0001250	Seizure	546	ATRX	ORPHA:847
HP:0001250	Seizure	546	ATRX	OMIM:309580
HP:0001250	Seizure	546	ATRX	OMIM:301040
HP:0001250	Seizure	54675	CRLS1	OMIM:620167
HP:0001250	Seizure	9184	BUB3	ORPHA:1052
HP:0001250	Seizure	699	BUB1	ORPHA:1052
HP:0001250	Seizure	9702	CEP57	ORPHA:1052
HP:0001250	Seizure	9319	TRIP13	ORPHA:1052
HP:0001250	Seizure	9319	TRIP13	OMIM:617598
HP:0001250	Seizure	701	BUB1B	ORPHA:1052
HP:0001250	Seizure	701	BUB1B	OMIM:257300
HP:0001250	Seizure	23036	ZNF292	OMIM:619188
HP:0001250	Seizure	55148	UBR7	OMIM:619189
HP:0001250	Seizure	23230	VPS13A	ORPHA:2388
HP:0001250	Seizure	23230	VPS13A	OMIM:200150
HP:0001250	Seizure	84342	COG8	ORPHA:95428
HP:0001250	Seizure	84342	COG8	OMIM:611182
HP:0001250	Seizure	11284	PNKP	OMIM:613402
HP:0001250	Seizure	11284	PNKP	ORPHA:1934
HP:0001250	Seizure	4915	NTRK2	OMIM:613886
HP:0001250	Seizure	4915	NTRK2	OMIM:617830
HP:0001250	Seizure	4915	NTRK2	ORPHA:442835
HP:0001250	Seizure	56922	MCCC1	OMIM:210200
HP:0001250	Seizure	11160	ERLIN2	OMIM:611225
HP:0001250	Seizure	11160	ERLIN2	OMIM:620512
HP:0001250	Seizure	11160	ERLIN2	ORPHA:209951
HP:0001250	Seizure	54872	PIGG	OMIM:616917
HP:0001250	Seizure	54872	PIGG	ORPHA:280
HP:0001250	Seizure	54872	PIGG	ORPHA:488635
HP:0001250	Seizure	25942	SIN3A	OMIM:613406
HP:0001250	Seizure	25942	SIN3A	ORPHA:500166
HP:0001250	Seizure	175	AGA	ORPHA:93
HP:0001250	Seizure	175	AGA	OMIM:208400
HP:0001250	Seizure	7468	NSD2	OMIM:194190
HP:0001250	Seizure	7468	NSD2	ORPHA:280
HP:0001250	Seizure	10815	CPLX1	OMIM:194190
HP:0001250	Seizure	10815	CPLX1	ORPHA:280
HP:0001250	Seizure	10815	CPLX1	ORPHA:352582
HP:0001250	Seizure	10815	CPLX1	OMIM:617976
HP:0001250	Seizure	1487	CTBP1	OMIM:194190
HP:0001250	Seizure	1487	CTBP1	ORPHA:280
HP:0001250	Seizure	53834	FGFRL1	OMIM:194190
HP:0001250	Seizure	3954	LETM1	OMIM:194190
HP:0001250	Seizure	3954	LETM1	ORPHA:280
HP:0001250	Seizure	3954	LETM1	OMIM:620089
HP:0001250	Seizure	84947	SERAC1	OMIM:614739
HP:0001250	Seizure	23530	NNT	OMIM:614736
HP:0001250	Seizure	383	ARG1	ORPHA:90
HP:0001250	Seizure	383	ARG1	OMIM:207800
HP:0001250	Seizure	3769	KCNJ13	ORPHA:65
HP:0001250	Seizure	343035	RD3	ORPHA:65
HP:0001250	Seizure	145226	RDH12	ORPHA:65
HP:0001250	Seizure	1406	CRX	ORPHA:65
HP:0001250	Seizure	64802	NMNAT1	ORPHA:65
HP:0001250	Seizure	57096	RPGRIP1	ORPHA:65
HP:0001250	Seizure	10383	TUBB4B	ORPHA:65
HP:0001250	Seizure	9742	IFT140	ORPHA:65
HP:0001250	Seizure	9742	IFT140	OMIM:266920
HP:0001250	Seizure	85015	USP45	ORPHA:65
HP:0001250	Seizure	6121	RPE65	ORPHA:65
HP:0001250	Seizure	23418	CRB1	ORPHA:65
HP:0001250	Seizure	5130	PCYT1A	ORPHA:65
HP:0001250	Seizure	9657	IQCB1	ORPHA:65
HP:0001250	Seizure	392255	GDF6	ORPHA:65
HP:0001250	Seizure	23746	AIPL1	ORPHA:65
HP:0001250	Seizure	3000	GUCY2D	ORPHA:65
HP:0001250	Seizure	9227	LRAT	ORPHA:65
HP:0001250	Seizure	55812	SPATA7	ORPHA:65
HP:0001250	Seizure	7287	TULP1	ORPHA:65
HP:0001250	Seizure	167691	LCA5	ORPHA:65
HP:0001250	Seizure	3614	IMPDH1	ORPHA:65
HP:0001250	Seizure	7025	NR2F1	ORPHA:401777
HP:0001250	Seizure	56006	SMG9	OMIM:616920
HP:0001250	Seizure	51660	MPC1	OMIM:614741
HP:0001250	Seizure	27286	SRPX2	ORPHA:163721
HP:0001250	Seizure	27286	SRPX2	OMIM:300643
HP:0001250	Seizure	27286	SRPX2	ORPHA:98889
HP:0001250	Seizure	2903	GRIN2A	ORPHA:163721
HP:0001250	Seizure	2903	GRIN2A	ORPHA:725
HP:0001250	Seizure	2903	GRIN2A	OMIM:245570
HP:0001250	Seizure	2903	GRIN2A	ORPHA:98818
HP:0001250	Seizure	116442	RAB39B	ORPHA:2379
HP:0001250	Seizure	116442	RAB39B	OMIM:311510
HP:0001250	Seizure	116442	RAB39B	OMIM:300271
HP:0001250	Seizure	91754	NEK9	ORPHA:64754
HP:0001250	Seizure	10846	PDE10A	OMIM:616921
HP:0001250	Seizure	84720	PIGO	OMIM:614749
HP:0001250	Seizure	84720	PIGO	ORPHA:247262
HP:0001250	Seizure	89884	LHX4	ORPHA:95496
HP:0001250	Seizure	89884	LHX4	ORPHA:95494
HP:0001250	Seizure	55717	WDR11	ORPHA:95496
HP:0001250	Seizure	55717	WDR11	ORPHA:478
HP:0001250	Seizure	6091	ROBO1	ORPHA:95496
HP:0001250	Seizure	50937	CDON	ORPHA:95496
HP:0001250	Seizure	50937	CDON	ORPHA:220386
HP:0001250	Seizure	50937	CDON	ORPHA:280200
HP:0001250	Seizure	50937	CDON	ORPHA:93926
HP:0001250	Seizure	50937	CDON	ORPHA:93924
HP:0001250	Seizure	50937	CDON	ORPHA:93925
HP:0001250	Seizure	23432	GPR161	ORPHA:95496
HP:0001250	Seizure	80025	PANK2	OMIM:234200
HP:0001250	Seizure	80025	PANK2	ORPHA:216866
HP:0001250	Seizure	23137	SMC5	OMIM:620185
HP:0001250	Seizure	79759	ZNF668	OMIM:620194
HP:0001250	Seizure	283209	PGM2L1	OMIM:620191
HP:0001250	Seizure	3251	HPRT1	OMIM:300322
HP:0001250	Seizure	3251	HPRT1	ORPHA:79233
HP:0001250	Seizure	5626	PROP1	ORPHA:95494
HP:0001250	Seizure	5626	PROP1	OMIM:262600
HP:0001250	Seizure	3170	FOXA2	ORPHA:95494
HP:0001250	Seizure	5449	POU1F1	ORPHA:95494
HP:0001250	Seizure	8050	PDHX	OMIM:245349
HP:0001250	Seizure	8050	PDHX	ORPHA:255182
HP:0001250	Seizure	57465	TBC1D24	ORPHA:163727
HP:0001250	Seizure	57465	TBC1D24	OMIM:605021
HP:0001250	Seizure	57465	TBC1D24	ORPHA:352582
HP:0001250	Seizure	57465	TBC1D24	OMIM:220500
HP:0001250	Seizure	23522	KAT6B	ORPHA:85201
HP:0001250	Seizure	23522	KAT6B	ORPHA:3047
HP:0001250	Seizure	4256	MGP	ORPHA:85202
HP:0001250	Seizure	4256	MGP	OMIM:245150
HP:0001250	Seizure	23261	CAMTA1	OMIM:614756
HP:0001250	Seizure	2255	FGF10	ORPHA:2363
HP:0001250	Seizure	112476	PRRT2	OMIM:128200
HP:0001250	Seizure	112476	PRRT2	ORPHA:98811
HP:0001250	Seizure	112476	PRRT2	ORPHA:31709
HP:0001250	Seizure	112476	PRRT2	ORPHA:98809
HP:0001250	Seizure	6605	SMARCE1	OMIM:616938
HP:0001250	Seizure	6605	SMARCE1	ORPHA:1465
HP:0001250	Seizure	6605	SMARCE1	ORPHA:2495
HP:0001250	Seizure	388015	RTL1	ORPHA:96334
HP:0001250	Seizure	8788	DLK1	ORPHA:96334
HP:0001250	Seizure	55384	MEG3	ORPHA:96334
HP:0001250	Seizure	55343	SLC35C1	ORPHA:99843
HP:0001250	Seizure	158	ADSL	ORPHA:46
HP:0001250	Seizure	158	ADSL	OMIM:103050
HP:0001250	Seizure	51322	WAC	ORPHA:284169
HP:0001250	Seizure	51322	WAC	OMIM:616708
HP:0001250	Seizure	1013	CDH15	OMIM:612580
HP:0001250	Seizure	10735	STAG2	ORPHA:521258
HP:0001250	Seizure	10735	STAG2	ORPHA:220386
HP:0001250	Seizure	10735	STAG2	ORPHA:93925
HP:0001250	Seizure	10735	STAG2	OMIM:301043
HP:0001250	Seizure	6389	SDHA	ORPHA:3208
HP:0001250	Seizure	6389	SDHA	OMIM:252011
HP:0001250	Seizure	6390	SDHB	ORPHA:3208
HP:0001250	Seizure	6390	SDHB	ORPHA:201
HP:0001250	Seizure	644096	SDHAF1	ORPHA:3208
HP:0001250	Seizure	1374	CPT1A	OMIM:255120
HP:0001250	Seizure	1374	CPT1A	ORPHA:156
HP:0001250	Seizure	6611	SMS	OMIM:309583
HP:0001250	Seizure	3458	IFNG	ORPHA:805
HP:0001250	Seizure	3458	IFNG	OMIM:613254
HP:0001250	Seizure	7248	TSC1	ORPHA:805
HP:0001250	Seizure	7248	TSC1	ORPHA:538
HP:0001250	Seizure	7248	TSC1	OMIM:191100
HP:0001250	Seizure	7249	TSC2	ORPHA:805
HP:0001250	Seizure	7249	TSC2	ORPHA:538
HP:0001250	Seizure	7249	TSC2	OMIM:613254
HP:0001250	Seizure	5663	PSEN1	ORPHA:1020
HP:0001250	Seizure	5663	PSEN1	OMIM:607822
HP:0001250	Seizure	5664	PSEN2	ORPHA:1020
HP:0001250	Seizure	10452	TOMM40	ORPHA:1020
HP:0001250	Seizure	351	APP	ORPHA:1020
HP:0001250	Seizure	351	APP	ORPHA:324713
HP:0001250	Seizure	351	APP	ORPHA:100006
HP:0001250	Seizure	54209	TREM2	ORPHA:1020
HP:0001250	Seizure	54209	TREM2	ORPHA:2770
HP:0001250	Seizure	54209	TREM2	OMIM:618193
HP:0001250	Seizure	10347	ABCA7	ORPHA:1020
HP:0001250	Seizure	6653	SORL1	ORPHA:1020
HP:0001250	Seizure	147372	CCBE1	OMIM:235510
HP:0001250	Seizure	147372	CCBE1	ORPHA:2136
HP:0001250	Seizure	2776	GNAQ	ORPHA:3205
HP:0001250	Seizure	2776	GNAQ	ORPHA:624
HP:0001250	Seizure	2776	GNAQ	OMIM:185300
HP:0001250	Seizure	6567	SLC16A2	ORPHA:59
HP:0001250	Seizure	3897	L1CAM	ORPHA:1497
HP:0001250	Seizure	3897	L1CAM	OMIM:304100
HP:0001250	Seizure	3897	L1CAM	ORPHA:2182
HP:0001250	Seizure	22907	DHX30	OMIM:617804
HP:0001250	Seizure	9990	SLC12A6	ORPHA:1496
HP:0001250	Seizure	9990	SLC12A6	OMIM:620068
HP:0001250	Seizure	9990	SLC12A6	OMIM:218000
HP:0001250	Seizure	7407	VARS1	OMIM:617802
HP:0001250	Seizure	9894	TELO2	OMIM:616954
HP:0001250	Seizure	9894	TELO2	ORPHA:488642
HP:0001250	Seizure	57724	EPG5	ORPHA:1493
HP:0001250	Seizure	57724	EPG5	OMIM:242840
HP:0001250	Seizure	196528	ARID2	OMIM:617808
HP:0001250	Seizure	196528	ARID2	ORPHA:1465
HP:0001250	Seizure	10535	RNASEH2A	ORPHA:51
HP:0001250	Seizure	10535	RNASEH2A	OMIM:610333
HP:0001250	Seizure	84153	RNASEH2C	ORPHA:51
HP:0001250	Seizure	25939	SAMHD1	ORPHA:51
HP:0001250	Seizure	79621	RNASEH2B	ORPHA:51
HP:0001250	Seizure	103	ADAR	ORPHA:51
HP:0001250	Seizure	100147744	RNU7-1	ORPHA:51
HP:0001250	Seizure	100147744	RNU7-1	OMIM:619487
HP:0001250	Seizure	134353	LSM11	ORPHA:51
HP:0001250	Seizure	134353	LSM11	OMIM:619486
HP:0001250	Seizure	64135	IFIH1	ORPHA:51
HP:0001250	Seizure	64135	IFIH1	OMIM:615846
HP:0001250	Seizure	56052	ALG1	OMIM:608540
HP:0001250	Seizure	56052	ALG1	ORPHA:79327
HP:0001250	Seizure	11128	POLR3A	OMIM:607694
HP:0001250	Seizure	11128	POLR3A	ORPHA:3455
HP:0001250	Seizure	55703	POLR3B	OMIM:607694
HP:0001250	Seizure	55703	POLR3B	OMIM:619742
HP:0001250	Seizure	10075	HUWE1	OMIM:309590
HP:0001250	Seizure	132	ADK	OMIM:614300
HP:0001250	Seizure	2290	FOXG1	OMIM:613454
HP:0001250	Seizure	2290	FOXG1	ORPHA:442835
HP:0001250	Seizure	2290	FOXG1	ORPHA:261144
HP:0001250	Seizure	79848	CSPP1	OMIM:615636
HP:0001250	Seizure	79848	CSPP1	ORPHA:475
HP:0001250	Seizure	6513	SLC2A1	OMIM:612126
HP:0001250	Seizure	6513	SLC2A1	OMIM:606777
HP:0001250	Seizure	6513	SLC2A1	ORPHA:168577
HP:0001250	Seizure	6513	SLC2A1	OMIM:608885
HP:0001250	Seizure	6513	SLC2A1	ORPHA:71277
HP:0001250	Seizure	6513	SLC2A1	ORPHA:98811
HP:0001250	Seizure	29123	ANKRD11	ORPHA:2332
HP:0001250	Seizure	29123	ANKRD11	ORPHA:261250
HP:0001250	Seizure	29123	ANKRD11	OMIM:148050
HP:0001250	Seizure	9759	HDAC4	ORPHA:1001
HP:0001250	Seizure	9759	HDAC4	OMIM:600430
HP:0001250	Seizure	9759	HDAC4	OMIM:619797
HP:0001250	Seizure	23600	AMACR	OMIM:614307
HP:0001250	Seizure	23600	AMACR	ORPHA:79095
HP:0001250	Seizure	6261	RYR1	ORPHA:466650
HP:0001250	Seizure	50943	FOXP3	OMIM:304790
HP:0001250	Seizure	5279	PIGC	OMIM:617816
HP:0001250	Seizure	91147	TMEM67	OMIM:216360
HP:0001250	Seizure	91147	TMEM67	ORPHA:1454
HP:0001250	Seizure	91147	TMEM67	ORPHA:475
HP:0001250	Seizure	26580	BSCL2	ORPHA:363400
HP:0001250	Seizure	26580	BSCL2	OMIM:615924
HP:0001250	Seizure	84162	BLTP1	OMIM:617822
HP:0001250	Seizure	1806	DPYD	OMIM:274270
HP:0001250	Seizure	1806	DPYD	ORPHA:1675
HP:0001250	Seizure	2902	GRIN1	OMIM:617820
HP:0001250	Seizure	2902	GRIN1	ORPHA:1934
HP:0001250	Seizure	2902	GRIN1	OMIM:614254
HP:0001250	Seizure	2902	GRIN1	OMIM:619814
HP:0001250	Seizure	2782	GNB1	OMIM:616973
HP:0001250	Seizure	2782	GNB1	ORPHA:488613
HP:0001250	Seizure	8085	KMT2D	ORPHA:2322
HP:0001250	Seizure	8085	KMT2D	OMIM:147920
HP:0001250	Seizure	7403	KDM6A	ORPHA:2322
HP:0001250	Seizure	7403	KDM6A	OMIM:300867
HP:0001250	Seizure	7403	KDM6A	OMIM:147920
HP:0001250	Seizure	3097	HIVEP2	OMIM:616977
HP:0001250	Seizure	2561	GABRB2	OMIM:617829
HP:0001250	Seizure	2561	GABRB2	ORPHA:442835
HP:0001250	Seizure	6638	SNRPN	ORPHA:177904
HP:0001250	Seizure	6638	SNRPN	ORPHA:177901
HP:0001250	Seizure	6638	SNRPN	ORPHA:177907
HP:0001250	Seizure	6638	SNRPN	ORPHA:411515
HP:0001250	Seizure	6638	SNRPN	OMIM:105830
HP:0001250	Seizure	6638	SNRPN	ORPHA:98754
HP:0001250	Seizure	6638	SNRPN	OMIM:209850
HP:0001250	Seizure	4692	NDN	ORPHA:177904
HP:0001250	Seizure	4692	NDN	ORPHA:177901
HP:0001250	Seizure	4692	NDN	ORPHA:98754
HP:0001250	Seizure	4948	OCA2	ORPHA:177904
HP:0001250	Seizure	4948	OCA2	ORPHA:177901
HP:0001250	Seizure	4948	OCA2	ORPHA:98794
HP:0001250	Seizure	4948	OCA2	ORPHA:98754
HP:0001250	Seizure	2332	FMR1	ORPHA:449291
HP:0001250	Seizure	2332	FMR1	OMIM:300624
HP:0001250	Seizure	2332	FMR1	ORPHA:908
HP:0001250	Seizure	55906	ZC4H2	OMIM:314580
HP:0001250	Seizure	10560	SLC19A2	OMIM:249270
HP:0001250	Seizure	2068	ERCC2	ORPHA:1466
HP:0001250	Seizure	2068	ERCC2	ORPHA:910
HP:0001250	Seizure	2067	ERCC1	ORPHA:1466
HP:0001250	Seizure	2073	ERCC5	ORPHA:1466
HP:0001250	Seizure	2073	ERCC5	ORPHA:910
HP:0001250	Seizure	116150	NUS1	OMIM:617831
HP:0001250	Seizure	116150	NUS1	ORPHA:442835
HP:0001250	Seizure	6597	SMARCA4	ORPHA:1465
HP:0001250	Seizure	6597	SMARCA4	OMIM:614609
HP:0001250	Seizure	6598	SMARCB1	ORPHA:1465
HP:0001250	Seizure	6598	SMARCB1	OMIM:614608
HP:0001250	Seizure	6598	SMARCB1	ORPHA:2495
HP:0001250	Seizure	6598	SMARCB1	ORPHA:99966
HP:0001250	Seizure	6598	SMARCB1	ORPHA:93921
HP:0001250	Seizure	6659	SOX4	ORPHA:1465
HP:0001250	Seizure	8289	ARID1A	ORPHA:1465
HP:0001250	Seizure	8289	ARID1A	OMIM:614607
HP:0001250	Seizure	5977	DPF2	ORPHA:1465
HP:0001250	Seizure	6602	SMARCD1	ORPHA:1465
HP:0001250	Seizure	57492	ARID1B	ORPHA:1465
HP:0001250	Seizure	57492	ARID1B	ORPHA:251056
HP:0001250	Seizure	57492	ARID1B	OMIM:135900
HP:0001250	Seizure	6664	SOX11	ORPHA:1465
HP:0001250	Seizure	6709	SPTAN1	OMIM:613477
HP:0001250	Seizure	6709	SPTAN1	OMIM:620538
HP:0001250	Seizure	6709	SPTAN1	OMIM:620540
HP:0001250	Seizure	4358	MPV17	OMIM:256810
HP:0001250	Seizure	6663	SOX10	ORPHA:163746
HP:0001250	Seizure	6663	SOX10	OMIM:609136
HP:0001250	Seizure	6663	SOX10	ORPHA:478
HP:0001250	Seizure	2911	GRM1	ORPHA:324262
HP:0001250	Seizure	2911	GRM1	OMIM:614831
HP:0001250	Seizure	79583	TMEM231	ORPHA:2318
HP:0001250	Seizure	79583	TMEM231	ORPHA:2754
HP:0001250	Seizure	51524	TMEM138	ORPHA:2318
HP:0001250	Seizure	23090	ZNF423	ORPHA:2318
HP:0001250	Seizure	57545	CC2D2A	ORPHA:2318
HP:0001250	Seizure	57545	CC2D2A	ORPHA:1454
HP:0001250	Seizure	57545	CC2D2A	OMIM:612285
HP:0001250	Seizure	7050	TGIF1	OMIM:142946
HP:0001250	Seizure	7050	TGIF1	ORPHA:220386
HP:0001250	Seizure	7050	TGIF1	ORPHA:280200
HP:0001250	Seizure	7050	TGIF1	ORPHA:93926
HP:0001250	Seizure	7050	TGIF1	ORPHA:93924
HP:0001250	Seizure	7050	TGIF1	ORPHA:93925
HP:0001250	Seizure	7098	TLR3	OMIM:613002
HP:0001250	Seizure	7098	TLR3	ORPHA:1930
HP:0001250	Seizure	545	ATR	OMIM:210600
HP:0001250	Seizure	128637	TBC1D20	OMIM:615663
HP:0001250	Seizure	128637	TBC1D20	ORPHA:2510
HP:0001250	Seizure	25839	COG4	OMIM:613489
HP:0001250	Seizure	2313	FLI1	ORPHA:2308
HP:0001250	Seizure	2313	FLI1	ORPHA:370348
HP:0001250	Seizure	10367	MICU1	OMIM:615673
HP:0001250	Seizure	1213	CLTC	OMIM:617854
HP:0001250	Seizure	1213	CLTC	ORPHA:442835
HP:0001250	Seizure	7305	TYROBP	ORPHA:2770
HP:0001250	Seizure	7305	TYROBP	OMIM:221770
HP:0001250	Seizure	8936	WASF1	OMIM:618707
HP:0001250	Seizure	11235	PDCD10	OMIM:603285
HP:0001250	Seizure	11235	PDCD10	ORPHA:221061
HP:0001250	Seizure	6697	SPR	ORPHA:70594
HP:0001250	Seizure	6697	SPR	OMIM:612716
HP:0001250	Seizure	28514	DLL1	OMIM:618709
HP:0001250	Seizure	28514	DLL1	ORPHA:220386
HP:0001250	Seizure	28514	DLL1	ORPHA:280200
HP:0001250	Seizure	28514	DLL1	ORPHA:93926
HP:0001250	Seizure	28514	DLL1	ORPHA:93924
HP:0001250	Seizure	28514	DLL1	ORPHA:93925
HP:0001250	Seizure	83605	CCM2	OMIM:603284
HP:0001250	Seizure	83605	CCM2	ORPHA:221061
HP:0001250	Seizure	6134	RPL10	ORPHA:435938
HP:0001250	Seizure	6134	RPL10	OMIM:300998
HP:0001250	Seizure	6134	RPL10	ORPHA:459070
HP:0001250	Seizure	23556	PIGN	ORPHA:280633
HP:0001250	Seizure	23556	PIGN	ORPHA:2059
HP:0001250	Seizure	23556	PIGN	OMIM:614080
HP:0001250	Seizure	2893	GRIA4	OMIM:617864
HP:0001250	Seizure	3661	IRF3	OMIM:616532
HP:0001250	Seizure	60482	SLC5A7	ORPHA:98914
HP:0001250	Seizure	4649	MYO9A	ORPHA:98914
HP:0001250	Seizure	1305	COL13A1	ORPHA:98914
HP:0001250	Seizure	1103	CHAT	ORPHA:98914
HP:0001250	Seizure	6576	SLC25A1	ORPHA:98914
HP:0001250	Seizure	6576	SLC25A1	OMIM:615182
HP:0001250	Seizure	6843	VAMP1	ORPHA:98914
HP:0001250	Seizure	6843	VAMP1	ORPHA:251282
HP:0001250	Seizure	375790	AGRN	ORPHA:98914
HP:0001250	Seizure	127833	SYT2	ORPHA:98914
HP:0001250	Seizure	6572	SLC18A3	ORPHA:98914
HP:0001250	Seizure	6616	SNAP25	ORPHA:98914
HP:0001250	Seizure	84628	NTNG2	OMIM:618718
HP:0001250	Seizure	5456	POU3F4	ORPHA:1435
HP:0001250	Seizure	139285	AMER1	OMIM:300373
HP:0001250	Seizure	51	ACOX1	OMIM:264470
HP:0001250	Seizure	51	ACOX1	ORPHA:2971
HP:0001250	Seizure	51	ACOX1	OMIM:618960
HP:0001250	Seizure	4094	MAF	OMIM:601088
HP:0001250	Seizure	4094	MAF	ORPHA:1272
HP:0001250	Seizure	10577	NPC2	OMIM:607625
HP:0001250	Seizure	5873	RAB27A	OMIM:607624
HP:0001250	Seizure	5873	RAB27A	ORPHA:79477
HP:0001250	Seizure	51317	PHF21A	OMIM:618725
HP:0001250	Seizure	51317	PHF21A	ORPHA:52022
HP:0001250	Seizure	2253	FGF8	ORPHA:220386
HP:0001250	Seizure	2253	FGF8	ORPHA:280200
HP:0001250	Seizure	2253	FGF8	ORPHA:93926
HP:0001250	Seizure	2253	FGF8	ORPHA:93924
HP:0001250	Seizure	2253	FGF8	ORPHA:93925
HP:0001250	Seizure	2253	FGF8	ORPHA:478
HP:0001250	Seizure	8243	SMC1A	ORPHA:220386
HP:0001250	Seizure	8243	SMC1A	OMIM:300590
HP:0001250	Seizure	8243	SMC1A	OMIM:301044
HP:0001250	Seizure	8243	SMC1A	ORPHA:199
HP:0001250	Seizure	8243	SMC1A	ORPHA:3095
HP:0001250	Seizure	6496	SIX3	ORPHA:220386
HP:0001250	Seizure	6496	SIX3	OMIM:157170
HP:0001250	Seizure	6496	SIX3	ORPHA:280200
HP:0001250	Seizure	6496	SIX3	ORPHA:93926
HP:0001250	Seizure	6496	SIX3	ORPHA:93924
HP:0001250	Seizure	6496	SIX3	ORPHA:93925
HP:0001250	Seizure	4838	NODAL	ORPHA:220386
HP:0001250	Seizure	4838	NODAL	ORPHA:280200
HP:0001250	Seizure	4838	NODAL	ORPHA:93926
HP:0001250	Seizure	4838	NODAL	ORPHA:93924
HP:0001250	Seizure	4838	NODAL	ORPHA:93925
HP:0001250	Seizure	6469	SHH	ORPHA:220386
HP:0001250	Seizure	6469	SHH	ORPHA:280200
HP:0001250	Seizure	6469	SHH	ORPHA:93926
HP:0001250	Seizure	6469	SHH	ORPHA:93924
HP:0001250	Seizure	6469	SHH	ORPHA:93925
HP:0001250	Seizure	7546	ZIC2	ORPHA:220386
HP:0001250	Seizure	7546	ZIC2	ORPHA:280200
HP:0001250	Seizure	7546	ZIC2	ORPHA:93926
HP:0001250	Seizure	7546	ZIC2	ORPHA:93924
HP:0001250	Seizure	7546	ZIC2	ORPHA:93925
HP:0001250	Seizure	7546	ZIC2	OMIM:609637
HP:0001250	Seizure	6491	STIL	ORPHA:220386
HP:0001250	Seizure	6491	STIL	ORPHA:93926
HP:0001250	Seizure	6491	STIL	ORPHA:93924
HP:0001250	Seizure	6491	STIL	ORPHA:93925
HP:0001250	Seizure	6491	STIL	OMIM:612703
HP:0001250	Seizure	2619	GAS1	ORPHA:220386
HP:0001250	Seizure	2619	GAS1	ORPHA:280200
HP:0001250	Seizure	2619	GAS1	ORPHA:93926
HP:0001250	Seizure	2619	GAS1	ORPHA:93924
HP:0001250	Seizure	2619	GAS1	ORPHA:93925
HP:0001250	Seizure	84976	DISP1	ORPHA:220386
HP:0001250	Seizure	84976	DISP1	ORPHA:280200
HP:0001250	Seizure	84976	DISP1	ORPHA:93926
HP:0001250	Seizure	84976	DISP1	ORPHA:93924
HP:0001250	Seizure	84976	DISP1	ORPHA:93925
HP:0001250	Seizure	8928	FOXH1	ORPHA:220386
HP:0001250	Seizure	8928	FOXH1	ORPHA:280200
HP:0001250	Seizure	8928	FOXH1	ORPHA:93926
HP:0001250	Seizure	8928	FOXH1	ORPHA:93924
HP:0001250	Seizure	8928	FOXH1	ORPHA:93925
HP:0001250	Seizure	6997	CRIPTO	ORPHA:220386
HP:0001250	Seizure	6997	CRIPTO	ORPHA:280200
HP:0001250	Seizure	6997	CRIPTO	ORPHA:93926
HP:0001250	Seizure	6997	CRIPTO	ORPHA:93924
HP:0001250	Seizure	6997	CRIPTO	ORPHA:93925
HP:0001250	Seizure	2806	GOT2	OMIM:618721
HP:0001250	Seizure	8777	MPDZ	OMIM:615219
HP:0001250	Seizure	8481	OFD1	ORPHA:2750
HP:0001250	Seizure	8481	OFD1	ORPHA:2754
HP:0001250	Seizure	8481	OFD1	OMIM:311200
HP:0001250	Seizure	8481	OFD1	ORPHA:475
HP:0001250	Seizure	10210	TOPORS	ORPHA:2754
HP:0001250	Seizure	9851	KIAA0753	ORPHA:2754
HP:0001250	Seizure	9851	KIAA0753	ORPHA:475
HP:0001250	Seizure	26123	TCTN3	ORPHA:2754
HP:0001250	Seizure	26123	TCTN3	ORPHA:475
HP:0001250	Seizure	5147	PDE6D	ORPHA:2754
HP:0001250	Seizure	5147	PDE6D	ORPHA:475
HP:0001250	Seizure	65250	CPLANE1	ORPHA:2754
HP:0001250	Seizure	65250	CPLANE1	ORPHA:475
HP:0001250	Seizure	374654	KIF7	ORPHA:2754
HP:0001250	Seizure	374654	KIF7	OMIM:200990
HP:0001250	Seizure	11133	KPTN	ORPHA:397612
HP:0001250	Seizure	51075	TMX2	OMIM:618730
HP:0001250	Seizure	57647	DHX37	OMIM:618731
HP:0001250	Seizure	64221	ROBO3	ORPHA:2744
HP:0001250	Seizure	1630	DCC	ORPHA:2744
HP:0001250	Seizure	1630	DCC	OMIM:617542
HP:0001250	Seizure	1630	DCC	ORPHA:478
HP:0001250	Seizure	80169	CTC1	OMIM:612199
HP:0001250	Seizure	51763	INPP5K	OMIM:617404
HP:0001250	Seizure	2212	FCGR2A	OMIM:152700
HP:0001250	Seizure	2213	FCGR2B	OMIM:152700
HP:0001250	Seizure	2213	FCGR2B	ORPHA:536
HP:0001250	Seizure	26191	PTPN22	OMIM:152700
HP:0001250	Seizure	26191	PTPN22	ORPHA:536
HP:0001250	Seizure	26191	PTPN22	ORPHA:900
HP:0001250	Seizure	1493	CTLA4	OMIM:152700
HP:0001250	Seizure	1493	CTLA4	ORPHA:536
HP:0001250	Seizure	1493	CTLA4	ORPHA:900
HP:0001250	Seizure	1773	DNASE1	OMIM:152700
HP:0001250	Seizure	1773	DNASE1	ORPHA:536
HP:0001250	Seizure	523	ATP6V1A	OMIM:617403
HP:0001250	Seizure	523	ATP6V1A	ORPHA:442835
HP:0001250	Seizure	523	ATP6V1A	ORPHA:357074
HP:0001250	Seizure	7337	UBE3A	ORPHA:411511
HP:0001250	Seizure	7337	UBE3A	ORPHA:411515
HP:0001250	Seizure	7337	UBE3A	OMIM:105830
HP:0001250	Seizure	7337	UBE3A	ORPHA:238446
HP:0001250	Seizure	7337	UBE3A	ORPHA:98794
HP:0001250	Seizure	7337	UBE3A	ORPHA:98795
HP:0001250	Seizure	498	ATP5F1A	OMIM:615228
HP:0001250	Seizure	498	ATP5F1A	OMIM:616045
HP:0001250	Seizure	498	ATP5F1A	ORPHA:254913
HP:0001250	Seizure	57194	ATP10A	ORPHA:411515
HP:0001250	Seizure	56978	PRDM8	ORPHA:324290
HP:0001250	Seizure	56978	PRDM8	OMIM:616640
HP:0001250	Seizure	4982	TNFRSF11B	ORPHA:1416
HP:0001250	Seizure	56172	ANKH	ORPHA:1416
HP:0001250	Seizure	3759	KCNJ2	ORPHA:37553
HP:0001250	Seizure	85465	SELENOI	ORPHA:506353
HP:0001250	Seizure	2811	GP1BA	ORPHA:274
HP:0001250	Seizure	2812	GP1BB	ORPHA:274
HP:0001250	Seizure	2812	GP1BB	ORPHA:567
HP:0001250	Seizure	2815	GP9	ORPHA:274
HP:0001250	Seizure	10617	STAMBP	OMIM:614261
HP:0001250	Seizure	8367	H4C5	OMIM:619950
HP:0001250	Seizure	229	ALDOB	OMIM:229600
HP:0001250	Seizure	229	ALDOB	ORPHA:469
HP:0001250	Seizure	3703	STT3A	OMIM:615596
HP:0001250	Seizure	3703	STT3A	ORPHA:370921
HP:0001250	Seizure	343450	KCNT2	OMIM:617771
HP:0001250	Seizure	55627	SMPD4	OMIM:618622
HP:0001250	Seizure	23417	MLYCD	OMIM:248360
HP:0001250	Seizure	81857	MED25	OMIM:616449
HP:0001250	Seizure	81857	MED25	ORPHA:464738
HP:0001250	Seizure	5361	PLXNA1	OMIM:619955
HP:0001250	Seizure	4693	NDP	OMIM:310600
HP:0001250	Seizure	4693	NDP	ORPHA:649
HP:0001250	Seizure	4047	LSS	ORPHA:2850
HP:0001250	Seizure	4047	LSS	OMIM:618840
HP:0001250	Seizure	197	AHSG	ORPHA:2850
HP:0001250	Seizure	3694	ITGB6	ORPHA:2850
HP:0001250	Seizure	22947	DUX4L1	ORPHA:269
HP:0001250	Seizure	1789	DNMT3B	ORPHA:269
HP:0001250	Seizure	23347	SMCHD1	ORPHA:269
HP:0001250	Seizure	100288687	DUX4	ORPHA:269
HP:0001250	Seizure	2072	ERCC4	ORPHA:90321
HP:0001250	Seizure	2072	ERCC4	ORPHA:910
HP:0001250	Seizure	3190	HNRNPK	ORPHA:453504
HP:0001250	Seizure	3190	HNRNPK	ORPHA:352665
HP:0001250	Seizure	57165	GJC2	OMIM:608804
HP:0001250	Seizure	57165	GJC2	ORPHA:320401
HP:0001250	Seizure	57165	GJC2	OMIM:613206
HP:0001250	Seizure	3074	HEXB	ORPHA:309162
HP:0001250	Seizure	3074	HEXB	ORPHA:309155
HP:0001250	Seizure	4522	MTHFD1	OMIM:617780
HP:0001250	Seizure	6855	SYP	OMIM:300802
HP:0001250	Seizure	790	CAD	OMIM:616457
HP:0001250	Seizure	55689	YEATS2	OMIM:615127
HP:0001250	Seizure	2670	GFAP	OMIM:203450
HP:0001250	Seizure	2670	GFAP	ORPHA:363717
HP:0001250	Seizure	80155	NAA15	OMIM:617787
HP:0001250	Seizure	10730	YME1L1	OMIM:617302
HP:0001250	Seizure	54681	P4HTM	ORPHA:436141
HP:0001250	Seizure	54681	P4HTM	OMIM:618493
HP:0001250	Seizure	129563	DIS3L2	ORPHA:2849
HP:0001250	Seizure	128486	FITM2	OMIM:618635
HP:0001250	Seizure	28960	DCPS	OMIM:616459
HP:0001250	Seizure	3908	LAMA2	ORPHA:258
HP:0001250	Seizure	3908	LAMA2	OMIM:618138
HP:0001250	Seizure	3908	LAMA2	OMIM:607855
HP:0001250	Seizure	57231	SNX14	ORPHA:397709
HP:0001250	Seizure	57231	SNX14	OMIM:616354
HP:0001250	Seizure	23474	ETHE1	ORPHA:51188
HP:0001250	Seizure	23474	ETHE1	OMIM:602473
HP:0001250	Seizure	51684	SUFU	ORPHA:280200
HP:0001250	Seizure	51684	SUFU	ORPHA:2495
HP:0001250	Seizure	51684	SUFU	ORPHA:475
HP:0001250	Seizure	10559	SLC35A1	OMIM:603585
HP:0001250	Seizure	535	ATP6V0A1	OMIM:619971
HP:0001250	Seizure	535	ATP6V0A1	OMIM:619970
HP:0001250	Seizure	55870	ASH1L	OMIM:617796
HP:0001250	Seizure	91869	RFT1	ORPHA:244310
HP:0001250	Seizure	91869	RFT1	OMIM:612015
HP:0001250	Seizure	816	CAMK2B	OMIM:617799
HP:0001250	Seizure	5155	PDGFB	ORPHA:1980
HP:0001250	Seizure	5155	PDGFB	OMIM:213600
HP:0001250	Seizure	5155	PDGFB	ORPHA:2495
HP:0001250	Seizure	9213	XPR1	ORPHA:1980
HP:0001250	Seizure	9213	XPR1	OMIM:616413
HP:0001250	Seizure	5159	PDGFRB	ORPHA:1980
HP:0001250	Seizure	5159	PDGFRB	OMIM:213600
HP:0001250	Seizure	57462	MYORG	ORPHA:1980
HP:0001250	Seizure	6575	SLC20A2	ORPHA:1980
HP:0001250	Seizure	6575	SLC20A2	OMIM:213600
HP:0001250	Seizure	58494	JAM2	ORPHA:1980
HP:0001250	Seizure	58494	JAM2	OMIM:618824
HP:0001250	Seizure	2626	GATA4	ORPHA:251071
HP:0001250	Seizure	7469	NELFA	ORPHA:280
HP:0001250	Seizure	22884	WDR37	OMIM:618652
HP:0001250	Seizure	57178	ZMIZ1	OMIM:618659
HP:0001250	Seizure	80208	SPG11	ORPHA:2822
HP:0001250	Seizure	388962	BOLA3	OMIM:614299
HP:0001250	Seizure	2783	GNB2	OMIM:619503
HP:0001250	Seizure	26057	ANKRD17	OMIM:619504
HP:0001250	Seizure	3737	KCNA2	ORPHA:442835
HP:0001250	Seizure	3737	KCNA2	OMIM:616366
HP:0001250	Seizure	1759	DNM1	ORPHA:442835
HP:0001250	Seizure	1759	DNM1	OMIM:620352
HP:0001250	Seizure	8120	AP3B2	ORPHA:442835
HP:0001250	Seizure	8120	AP3B2	OMIM:617276
HP:0001250	Seizure	10991	SLC38A3	ORPHA:442835
HP:0001250	Seizure	51343	FZR1	ORPHA:442835
HP:0001250	Seizure	3747	KCNC2	ORPHA:442835
HP:0001250	Seizure	1917	EEF1A2	ORPHA:442835
HP:0001250	Seizure	1917	EEF1A2	OMIM:616409
HP:0001250	Seizure	23219	FBXO28	ORPHA:442835
HP:0001250	Seizure	23219	FBXO28	OMIM:619777
HP:0001250	Seizure	2558	GABRA5	ORPHA:442835
HP:0001250	Seizure	2558	GABRA5	OMIM:618559
HP:0001250	Seizure	2906	GRIN2D	ORPHA:442835
HP:0001250	Seizure	2906	GRIN2D	OMIM:617162
HP:0001250	Seizure	51741	WWOX	ORPHA:442835
HP:0001250	Seizure	51741	WWOX	OMIM:616211
HP:0001250	Seizure	23334	SZT2	ORPHA:442835
HP:0001250	Seizure	348980	HCN1	ORPHA:442835
HP:0001250	Seizure	348980	HCN1	OMIM:618482
HP:0001250	Seizure	25977	NECAP1	ORPHA:442835
HP:0001250	Seizure	23241	PACS2	ORPHA:442835
HP:0001250	Seizure	23241	PACS2	OMIM:618067
HP:0001250	Seizure	16	AARS1	ORPHA:442835
HP:0001250	Seizure	9568	GABBR2	ORPHA:442835
HP:0001250	Seizure	9568	GABBR2	ORPHA:3095
HP:0001250	Seizure	9568	GABBR2	OMIM:617903
HP:0001250	Seizure	2555	GABRA2	ORPHA:442835
HP:0001250	Seizure	2555	GABRA2	OMIM:618557
HP:0001250	Seizure	55152	DALRD3	ORPHA:442835
HP:0001250	Seizure	26999	CYFIP2	ORPHA:442835
HP:0001250	Seizure	26999	CYFIP2	OMIM:618008
HP:0001250	Seizure	25973	PARS2	ORPHA:442835
HP:0001250	Seizure	25973	PARS2	OMIM:618437
HP:0001250	Seizure	23097	CDK19	ORPHA:442835
HP:0001250	Seizure	23097	CDK19	OMIM:618916
HP:0001250	Seizure	2257	FGF12	ORPHA:442835
HP:0001250	Seizure	5530	PPP3CA	ORPHA:442835
HP:0001250	Seizure	5530	PPP3CA	OMIM:617711
HP:0001250	Seizure	478	ATP1A3	ORPHA:442835
HP:0001250	Seizure	478	ATP1A3	OMIM:601338
HP:0001250	Seizure	478	ATP1A3	ORPHA:1171
HP:0001250	Seizure	478	ATP1A3	ORPHA:71517
HP:0001250	Seizure	478	ATP1A3	ORPHA:2131
HP:0001250	Seizure	478	ATP1A3	OMIM:614820
HP:0001250	Seizure	22906	TRAK1	ORPHA:442835
HP:0001250	Seizure	2566	GABRG2	ORPHA:442835
HP:0001250	Seizure	7532	YWHAG	ORPHA:442835
HP:0001250	Seizure	7532	YWHAG	OMIM:617665
HP:0001250	Seizure	79876	UBA5	ORPHA:442835
HP:0001250	Seizure	79876	UBA5	OMIM:617132
HP:0001250	Seizure	6328	SCN3A	ORPHA:442835
HP:0001250	Seizure	6328	SCN3A	OMIM:617938
HP:0001250	Seizure	781	CACNA2D1	ORPHA:442835
HP:0001250	Seizure	10659	CELF2	ORPHA:442835
HP:0001250	Seizure	10659	CELF2	OMIM:619561
HP:0001250	Seizure	774	CACNA1B	ORPHA:442835
HP:0001250	Seizure	774	CACNA1B	OMIM:618497
HP:0001250	Seizure	51412	ACTL6B	ORPHA:442835
HP:0001250	Seizure	51412	ACTL6B	OMIM:618468
HP:0001250	Seizure	6506	SLC1A2	ORPHA:442835
HP:0001250	Seizure	477	ATP1A2	ORPHA:442835
HP:0001250	Seizure	477	ATP1A2	ORPHA:2131
HP:0001250	Seizure	3745	KCNB1	ORPHA:442835
HP:0001250	Seizure	284111	SLC13A5	ORPHA:442835
HP:0001250	Seizure	284111	SLC13A5	ORPHA:1946
HP:0001250	Seizure	22866	CNKSR2	ORPHA:442835
HP:0001250	Seizure	22866	CNKSR2	OMIM:301008
HP:0001250	Seizure	773	CACNA1A	ORPHA:442835
HP:0001250	Seizure	773	CACNA1A	OMIM:141500
HP:0001250	Seizure	773	CACNA1A	ORPHA:2131
HP:0001250	Seizure	6323	SCN1A	ORPHA:442835
HP:0001250	Seizure	6323	SCN1A	OMIM:609634
HP:0001250	Seizure	8241	RBM10	OMIM:311900
HP:0001250	Seizure	8241	RBM10	ORPHA:2886
HP:0001250	Seizure	57167	SALL4	ORPHA:233
HP:0001250	Seizure	9935	MAFB	ORPHA:233
HP:0001250	Seizure	1123	CHN1	ORPHA:233
HP:0001250	Seizure	3981	LIG4	ORPHA:235
HP:0001250	Seizure	54888	NSUN2	ORPHA:235
HP:0001250	Seizure	54888	NSUN2	OMIM:611091
HP:0001250	Seizure	51594	NBAS	OMIM:616483
HP:0001250	Seizure	253738	EBF3	OMIM:617330
HP:0001250	Seizure	253738	EBF3	ORPHA:96148
HP:0001250	Seizure	29081	METTL5	OMIM:618665
HP:0001250	Seizure	84879	MFSD2A	OMIM:616486
HP:0001250	Seizure	7862	BRPF1	OMIM:617333
HP:0001250	Seizure	1660	DHX9	OMIM:620988
HP:0001250	Seizure	2550	GABBR1	OMIM:620502
HP:0001250	Seizure	131405	TRIM71	OMIM:618667
HP:0001250	Seizure	4191	MDH2	OMIM:617339
HP:0001250	Seizure	286	ANK1	ORPHA:251066
HP:0001250	Seizure	166785	MMAA	OMIM:251100
HP:0001250	Seizure	5551	PRF1	OMIM:603553
HP:0001250	Seizure	5551	PRF1	ORPHA:540
HP:0001250	Seizure	8676	STX11	OMIM:603552
HP:0001250	Seizure	8676	STX11	ORPHA:540
HP:0001250	Seizure	554	AVPR2	ORPHA:223
HP:0001250	Seizure	554	AVPR2	OMIM:304800
HP:0001250	Seizure	359	AQP2	ORPHA:223
HP:0001250	Seizure	359	AQP2	OMIM:125800
HP:0001250	Seizure	26137	ZBTB20	OMIM:259050
HP:0001250	Seizure	26137	ZBTB20	ORPHA:3042
HP:0001250	Seizure	7750	ZMYM2	OMIM:619522
HP:0001250	Seizure	2720	GLB1	OMIM:230650
HP:0001250	Seizure	2720	GLB1	OMIM:230500
HP:0001250	Seizure	2720	GLB1	ORPHA:79255
HP:0001250	Seizure	22	ABCB7	ORPHA:2802
HP:0001250	Seizure	22	ABCB7	OMIM:301310
HP:0001250	Seizure	57466	SCAF4	OMIM:620511
HP:0001250	Seizure	9562	MINPP1	OMIM:619527
HP:0001250	Seizure	9562	MINPP1	ORPHA:284339
HP:0001250	Seizure	51163	DBR1	OMIM:620510
HP:0001250	Seizure	23314	SATB2	ORPHA:576283
HP:0001250	Seizure	23314	SATB2	ORPHA:251028
HP:0001250	Seizure	23314	SATB2	OMIM:612313
HP:0001250	Seizure	6324	SCN1B	OMIM:617350
HP:0001250	Seizure	6324	SCN1B	ORPHA:1934
HP:0001250	Seizure	79989	IFT56	OMIM:619534
HP:0001250	Seizure	9922	IQSEC1	OMIM:618687
HP:0001250	Seizure	284098	PIGW	OMIM:616025
HP:0001250	Seizure	284098	PIGW	ORPHA:247262
HP:0001250	Seizure	2157	F8	ORPHA:169805
HP:0001250	Seizure	4851	NOTCH1	OMIM:616028
HP:0001250	Seizure	4851	NOTCH1	ORPHA:974
HP:0001250	Seizure	3785	KCNQ2	ORPHA:439218
HP:0001250	Seizure	3785	KCNQ2	OMIM:613720
HP:0001250	Seizure	3930	LBR	OMIM:169400
HP:0001250	Seizure	79641	ROGDI	ORPHA:1946
HP:0001250	Seizure	79641	ROGDI	OMIM:226750
HP:0001250	Seizure	6595	SMARCA2	OMIM:601358
HP:0001250	Seizure	6595	SMARCA2	ORPHA:3051
HP:0001250	Seizure	6595	SMARCA2	OMIM:619293
HP:0001250	Seizure	6812	STXBP1	ORPHA:599373
HP:0001250	Seizure	6812	STXBP1	ORPHA:495818
HP:0001250	Seizure	8621	CDK13	OMIM:617360
HP:0001250	Seizure	133686	NADK2	OMIM:616034
HP:0001250	Seizure	133686	NADK2	ORPHA:431361
HP:0001250	Seizure	164	AP1G1	OMIM:619548
HP:0001250	Seizure	164	AP1G1	OMIM:619467
HP:0001250	Seizure	8905	AP1S2	OMIM:304340
HP:0001250	Seizure	6792	CDKL5	ORPHA:1934
HP:0001250	Seizure	6792	CDKL5	ORPHA:3095
HP:0001250	Seizure	6792	CDKL5	OMIM:300672
HP:0001250	Seizure	3736	KCNA1	ORPHA:1934
HP:0001250	Seizure	3736	KCNA1	ORPHA:972
HP:0001250	Seizure	3736	KCNA1	ORPHA:98809
HP:0001250	Seizure	9091	PIGQ	ORPHA:1934
HP:0001250	Seizure	140679	SLC32A1	ORPHA:1934
HP:0001250	Seizure	140679	SLC32A1	OMIM:620755
HP:0001250	Seizure	2775	GNAO1	ORPHA:1934
HP:0001250	Seizure	81603	TRIM8	ORPHA:1934
HP:0001250	Seizure	81603	TRIM8	OMIM:619428
HP:0001250	Seizure	79751	SLC25A22	ORPHA:1934
HP:0001250	Seizure	79751	SLC25A22	OMIM:609304
HP:0001250	Seizure	150094	SIK1	ORPHA:1934
HP:0001250	Seizure	150094	SIK1	OMIM:616341
HP:0001250	Seizure	23312	DMXL2	ORPHA:1934
HP:0001250	Seizure	2917	GRM7	ORPHA:1934
HP:0001250	Seizure	2917	GRM7	OMIM:618922
HP:0001250	Seizure	6326	SCN2A	ORPHA:1934
HP:0001250	Seizure	6326	SCN2A	OMIM:618924
HP:0001250	Seizure	51227	PIGP	ORPHA:1934
HP:0001250	Seizure	51227	PIGP	OMIM:617599
HP:0001250	Seizure	4761	NEUROD2	ORPHA:1934
HP:0001250	Seizure	8803	SUCLA2	ORPHA:1933
HP:0001250	Seizure	8803	SUCLA2	OMIM:612073
HP:0001250	Seizure	10456	HAX1	OMIM:610738
HP:0001250	Seizure	7187	TRAF3	ORPHA:1930
HP:0001250	Seizure	81622	UNC93B1	ORPHA:1930
HP:0001250	Seizure	148022	TICAM1	ORPHA:1930
HP:0001250	Seizure	29110	TBK1	ORPHA:1930
HP:0001250	Seizure	29110	TBK1	OMIM:620880
HP:0001250	Seizure	29110	TBK1	OMIM:617900
HP:0001250	Seizure	3912	LAMB1	OMIM:615191
HP:0001250	Seizure	3912	LAMB1	ORPHA:352682
HP:0001250	Seizure	55217	TMLHE	OMIM:300872
HP:0001250	Seizure	4728	NDUFS8	OMIM:618222
HP:0001250	Seizure	10466	COG5	ORPHA:263487
HP:0001250	Seizure	51422	PRKAG2	OMIM:261740
HP:0001250	Seizure	374291	NDUFS7	OMIM:618224
HP:0001250	Seizure	4723	NDUFV1	OMIM:618225
HP:0001250	Seizure	30000	TNPO2	OMIM:619556
HP:0001250	Seizure	79705	LRRK1	OMIM:615198
HP:0001250	Seizure	4719	NDUFS1	OMIM:618226
HP:0001250	Seizure	83548	COG3	OMIM:620546
HP:0001250	Seizure	81570	CLPB	ORPHA:445038
HP:0001250	Seizure	81570	CLPB	OMIM:619813
HP:0001250	Seizure	81570	CLPB	OMIM:616271
HP:0001250	Seizure	6507	SLC1A3	ORPHA:209967
HP:0001250	Seizure	6507	SLC1A3	ORPHA:2131
HP:0001250	Seizure	6507	SLC1A3	OMIM:612656
HP:0001250	Seizure	2627	GATA6	OMIM:600001
HP:0001250	Seizure	2627	GATA6	ORPHA:2255
HP:0001250	Seizure	1908	EDN3	ORPHA:661
HP:0001250	Seizure	2668	GDNF	ORPHA:661
HP:0001250	Seizure	627	BDNF	ORPHA:661
HP:0001250	Seizure	10660	LBX1	ORPHA:661
HP:0001250	Seizure	283446	MYO1H	ORPHA:661
HP:0001250	Seizure	283446	MYO1H	OMIM:619482
HP:0001250	Seizure	5009	OTC	ORPHA:664
HP:0001250	Seizure	5009	OTC	OMIM:311250
HP:0001250	Seizure	55869	HDAC8	OMIM:300882
HP:0001250	Seizure	55869	HDAC8	ORPHA:3459
HP:0001250	Seizure	55869	HDAC8	ORPHA:199
HP:0001250	Seizure	2581	GALC	ORPHA:206443
HP:0001250	Seizure	2581	GALC	ORPHA:206436
HP:0001250	Seizure	2581	GALC	OMIM:245200
HP:0001250	Seizure	91942	NDUFAF2	OMIM:618233
HP:0001250	Seizure	650	BMP2	ORPHA:261295
HP:0001250	Seizure	25814	ATXN10	OMIM:603516
HP:0001250	Seizure	79868	ALG13	OMIM:300884
HP:0001250	Seizure	126328	NDUFA11	OMIM:618236
HP:0001250	Seizure	9342	SNAP29	ORPHA:66631
HP:0001250	Seizure	4726	NDUFS6	OMIM:618232
HP:0001250	Seizure	443	ASPA	ORPHA:314918
HP:0001250	Seizure	443	ASPA	ORPHA:314911
HP:0001250	Seizure	79133	NDUFAF5	OMIM:618238
HP:0001250	Seizure	2033	EP300	ORPHA:353284
HP:0001250	Seizure	2033	EP300	OMIM:180849
HP:0001250	Seizure	137682	NDUFAF6	OMIM:618239
HP:0001250	Seizure	162514	TRPV3	ORPHA:659
HP:0001250	Seizure	64065	PERP	ORPHA:659
HP:0001250	Seizure	1130	LYST	OMIM:214500
HP:0001250	Seizure	1130	LYST	ORPHA:167
HP:0001250	Seizure	26128	KIFBP	ORPHA:66629
HP:0001250	Seizure	7846	TUBA1A	OMIM:611603
HP:0001250	Seizure	2710	GK	OMIM:307030
HP:0001250	Seizure	9179	AP4M1	OMIM:612936
HP:0001250	Seizure	9179	AP4M1	ORPHA:280763
HP:0001250	Seizure	9126	SMC3	OMIM:610759
HP:0001250	Seizure	9126	SMC3	ORPHA:199
HP:0001250	Seizure	79944	L2HGDH	OMIM:236792
HP:0001250	Seizure	79944	L2HGDH	ORPHA:79314
HP:0001250	Seizure	79068	FTO	OMIM:612938
HP:0001250	Seizure	4976	OPA1	ORPHA:98673
HP:0001250	Seizure	1491	CTH	ORPHA:212
HP:0001250	Seizure	1741	DLG3	OMIM:300850
HP:0001250	Seizure	3192	HNRNPU	OMIM:617391
HP:0001250	Seizure	57551	TAOK1	OMIM:619575
HP:0001250	Seizure	112939	NACC1	OMIM:617393
HP:0001250	Seizure	112939	NACC1	ORPHA:500545
HP:0001250	Seizure	55572	FOXRED1	OMIM:618241
HP:0001250	Seizure	11274	USP18	OMIM:617397
HP:0001250	Seizure	7169	TPM2	OMIM:609285
HP:0001250	Seizure	29920	PYCR2	ORPHA:481152
HP:0001250	Seizure	29920	PYCR2	OMIM:616420
HP:0001250	Seizure	22845	DOLK	OMIM:610768
HP:0001250	Seizure	22845	DOLK	ORPHA:91131
HP:0001250	Seizure	4864	NPC1	OMIM:257220
HP:0001250	Seizure	8604	SLC25A12	OMIM:612949
HP:0001250	Seizure	6898	TAT	ORPHA:28378
HP:0001250	Seizure	10483	SEC23B	ORPHA:201
HP:0001250	Seizure	6391	SDHC	ORPHA:201
HP:0001250	Seizure	205717	USF3	ORPHA:201
HP:0001250	Seizure	100144748	KLLN	ORPHA:201
HP:0001250	Seizure	3643	INSR	ORPHA:263458
HP:0001250	Seizure	7319	UBE2A	OMIM:300860
HP:0001250	Seizure	7319	UBE2A	ORPHA:163956
HP:0001250	Seizure	3172	HNF4A	ORPHA:263455
HP:0001250	Seizure	10524	KAT5	OMIM:619103
HP:0001250	Seizure	51300	TIMMDC1	OMIM:618251
HP:0001250	Seizure	5277	PIGA	OMIM:300868
HP:0001250	Seizure	5277	PIGA	OMIM:301072
HP:0001250	Seizure	4714	NDUFB8	OMIM:618252
HP:0001250	Seizure	4700	NDUFA6	OMIM:618253
HP:0001250	Seizure	8635	RNASET2	OMIM:612951
HP:0001250	Seizure	9244	CRLF1	OMIM:272430
HP:0001250	Seizure	9244	CRLF1	ORPHA:1545
HP:0001250	Seizure	1021	CDK6	OMIM:616080
HP:0001250	Seizure	50814	NSDHL	OMIM:300831
HP:0001250	Seizure	50814	NSDHL	ORPHA:251383
HP:0001250	Seizure	3975	LHX1	ORPHA:261265
HP:0001250	Seizure	6928	HNF1B	ORPHA:261265
HP:0001250	Seizure	57003	CCDC47	OMIM:618268
HP:0001250	Seizure	51095	TRNT1	OMIM:616084
HP:0001250	Seizure	10847	SRCAP	OMIM:619595
HP:0001250	Seizure	10847	SRCAP	ORPHA:2044
HP:0001250	Seizure	51091	SEPSECS	OMIM:613811
HP:0001250	Seizure	51091	SEPSECS	ORPHA:2524
HP:0001250	Seizure	6660	SOX5	ORPHA:626
HP:0001250	Seizure	6660	SOX5	ORPHA:313892
HP:0001250	Seizure	238	ALK	ORPHA:626
HP:0001250	Seizure	9839	ZEB2	ORPHA:626
HP:0001250	Seizure	9839	ZEB2	OMIM:235730
HP:0001250	Seizure	9839	ZEB2	ORPHA:261552
HP:0001250	Seizure	9839	ZEB2	ORPHA:261537
HP:0001250	Seizure	4893	NRAS	ORPHA:626
HP:0001250	Seizure	4893	NRAS	OMIM:163200
HP:0001250	Seizure	4893	NRAS	ORPHA:2612
HP:0001250	Seizure	4893	NRAS	OMIM:249400
HP:0001250	Seizure	5894	RAF1	ORPHA:626
HP:0001250	Seizure	1528	CYB5A	ORPHA:621
HP:0001250	Seizure	1727	CYB5R3	ORPHA:621
HP:0001250	Seizure	54982	CLN6	OMIM:601780
HP:0001250	Seizure	2132	EXT2	ORPHA:52022
HP:0001250	Seizure	2132	EXT2	ORPHA:466926
HP:0001250	Seizure	2132	EXT2	OMIM:616682
HP:0001250	Seizure	60529	ALX4	ORPHA:52022
HP:0001250	Seizure	60529	ALX4	ORPHA:60015
HP:0001250	Seizure	8915	BCL10	OMIM:616098
HP:0001250	Seizure	7504	XK	OMIM:300842
HP:0001250	Seizure	90522	YIF1B	OMIM:619125
HP:0001250	Seizure	374354	NHLRC2	OMIM:618278
HP:0001250	Seizure	22983	MAST1	OMIM:618273
HP:0001250	Seizure	118924	FRA10AC1	OMIM:620113
HP:0001250	Seizure	8911	CACNA1I	OMIM:620114
HP:0001250	Seizure	4488	MSX2	OMIM:168500
HP:0001250	Seizure	4488	MSX2	ORPHA:60015
HP:0001250	Seizure	4488	MSX2	OMIM:604757
HP:0001250	Seizure	9895	TECPR2	ORPHA:320385
HP:0001250	Seizure	4781	NFIB	OMIM:618286
HP:0001250	Seizure	55835	CPAP	OMIM:608393
HP:0001250	Seizure	4668	NAGA	OMIM:609241
HP:0001250	Seizure	4668	NAGA	ORPHA:79281
HP:0001250	Seizure	4668	NAGA	ORPHA:79279
HP:0001250	Seizure	9487	PIGL	OMIM:280000
HP:0001250	Seizure	9487	PIGL	ORPHA:247262
HP:0001250	Seizure	9487	PIGL	ORPHA:3474
HP:0001250	Seizure	131118	DNAJC19	ORPHA:66634
HP:0001250	Seizure	131118	DNAJC19	OMIM:610198
HP:0001250	Seizure	3593	IL12B	ORPHA:3287
HP:0001250	Seizure	3106	HLA-B	ORPHA:3287
HP:0001250	Seizure	3106	HLA-B	ORPHA:117
HP:0001250	Seizure	6945	MLX	ORPHA:3287
HP:0001250	Seizure	5660	PSAP	ORPHA:206436
HP:0001250	Seizure	5660	PSAP	ORPHA:309271
HP:0001250	Seizure	5660	PSAP	ORPHA:309263
HP:0001250	Seizure	5660	PSAP	ORPHA:309256
HP:0001250	Seizure	5660	PSAP	OMIM:249900
HP:0001250	Seizure	5660	PSAP	OMIM:610539
HP:0001250	Seizure	79644	SRD5A3	ORPHA:324737
HP:0001250	Seizure	79644	SRD5A3	OMIM:612713
HP:0001250	Seizure	80704	SLC19A3	ORPHA:263410
HP:0001250	Seizure	80704	SLC19A3	OMIM:607483
HP:0001250	Seizure	27161	AGO2	OMIM:619149
HP:0001250	Seizure	8665	EIF3F	OMIM:618295
HP:0001250	Seizure	221692	PHACTR1	OMIM:618298
HP:0001250	Seizure	9131	AIFM1	OMIM:300816
HP:0001250	Seizure	9131	AIFM1	OMIM:300232
HP:0001250	Seizure	4771	NF2	ORPHA:637
HP:0001250	Seizure	4771	NF2	ORPHA:2495
HP:0001250	Seizure	4771	NF2	OMIM:101000
HP:0001250	Seizure	4771	NF2	ORPHA:93921
HP:0001250	Seizure	8517	IKBKG	OMIM:308300
HP:0001250	Seizure	8517	IKBKG	ORPHA:464
HP:0001250	Seizure	26275	HIBCH	OMIM:250620
HP:0001250	Seizure	26275	HIBCH	ORPHA:88639
HP:0001250	Seizure	50640	PNPLA8	OMIM:251950
HP:0001250	Seizure	11005	SPINK5	ORPHA:634
HP:0001250	Seizure	11198	SUPT16H	ORPHA:261229
HP:0001250	Seizure	57680	CHD8	ORPHA:261229
HP:0001250	Seizure	57680	CHD8	OMIM:615032
HP:0001250	Seizure	199857	ALG14	OMIM:619031
HP:0001250	Seizure	25970	SH2B1	ORPHA:261222
HP:0001250	Seizure	25970	SH2B1	ORPHA:261197
HP:0001250	Seizure	3763	KCNJ6	ORPHA:435628
HP:0001250	Seizure	3763	KCNJ6	OMIM:614098
HP:0001250	Seizure	375	ARF1	OMIM:618185
HP:0001250	Seizure	23019	CNOT1	OMIM:619033
HP:0001250	Seizure	23019	CNOT1	OMIM:618500
HP:0001250	Seizure	8506	CNTNAP1	OMIM:618186
HP:0001250	Seizure	83700	JAM3	OMIM:613730
HP:0001250	Seizure	95	ACY1	ORPHA:137754
HP:0001250	Seizure	95	ACY1	OMIM:609924
HP:0001250	Seizure	7109	TRAPPC10	OMIM:620027
HP:0001250	Seizure	10274	STAG1	ORPHA:502434
HP:0001250	Seizure	10274	STAG1	OMIM:617635
HP:0001250	Seizure	4774	NFIA	OMIM:613735
HP:0001250	Seizure	4774	NFIA	ORPHA:401986
HP:0001250	Seizure	118987	PDZD8	OMIM:620021
HP:0001250	Seizure	80222	TARS2	OMIM:615918
HP:0001250	Seizure	3073	HEXA	OMIM:272800
HP:0001250	Seizure	4983	OPHN1	OMIM:300486
HP:0001250	Seizure	54968	TMEM70	ORPHA:1194
HP:0001250	Seizure	54968	TMEM70	OMIM:614052
HP:0001250	Seizure	3141	HLCS	OMIM:253270
HP:0001250	Seizure	3141	HLCS	ORPHA:79242
HP:0001250	Seizure	55163	PNPO	ORPHA:79096
HP:0001250	Seizure	55163	PNPO	OMIM:610090
HP:0001250	Seizure	23431	AP4E1	OMIM:613744
HP:0001250	Seizure	23431	AP4E1	ORPHA:280763
HP:0001250	Seizure	846	CASR	OMIM:612899
HP:0001250	Seizure	846	CASR	OMIM:601198
HP:0001250	Seizure	10472	ZBTB18	ORPHA:36367
HP:0001250	Seizure	10472	ZBTB18	OMIM:612337
HP:0001250	Seizure	63908	NAPB	OMIM:620033
HP:0001250	Seizure	1137	CHRNA4	OMIM:600513
HP:0001250	Seizure	4509	MT-ATP8	ORPHA:254913
HP:0001250	Seizure	514	ATP5F1E	ORPHA:254913
HP:0001250	Seizure	513	ATP5F1D	ORPHA:254913
HP:0001250	Seizure	84833	ATP5MK	ORPHA:254913
HP:0001250	Seizure	91647	ATPAF2	ORPHA:254913
HP:0001250	Seizure	100131801	PET100	OMIM:619055
HP:0001250	Seizure	9739	SETD1A	OMIM:619056
HP:0001250	Seizure	340024	SLC6A19	OMIM:234500
HP:0001250	Seizure	340024	SLC6A19	ORPHA:2116
HP:0001250	Seizure	686	BTD	OMIM:253260
HP:0001250	Seizure	686	BTD	ORPHA:79241
HP:0001250	Seizure	84823	LMNB2	ORPHA:79087
HP:0001250	Seizure	23732	FRRS1L	ORPHA:725
HP:0001250	Seizure	10908	PNPLA6	ORPHA:3363
HP:0001250	Seizure	10015	PDCD6IP	OMIM:620047
HP:0001250	Seizure	3117	HLA-DQA1	OMIM:212750
HP:0001250	Seizure	3119	HLA-DQB1	OMIM:212750
HP:0001250	Seizure	8772	FADD	OMIM:613759
HP:0001250	Seizure	8772	FADD	ORPHA:306550
HP:0001250	Seizure	259232	NALCN	ORPHA:562528
HP:0001250	Seizure	259232	NALCN	OMIM:615419
HP:0001250	Seizure	259232	NALCN	OMIM:616266
HP:0001250	Seizure	259232	NALCN	ORPHA:371364
HP:0001250	Seizure	84334	COA8	OMIM:619061
HP:0001250	Seizure	84334	COA8	ORPHA:436271
HP:0001250	Seizure	26053	AUTS2	ORPHA:352490
HP:0001250	Seizure	23461	ABCA5	ORPHA:2026
HP:0001250	Seizure	79813	EHMT1	OMIM:610253
HP:0001250	Seizure	79813	EHMT1	ORPHA:261652
HP:0001250	Seizure	79813	EHMT1	ORPHA:96147
HP:0001250	Seizure	10352	WARS2	ORPHA:572798
HP:0001250	Seizure	10352	WARS2	OMIM:617710
HP:0001250	Seizure	10382	TUBB4A	OMIM:612438
HP:0001250	Seizure	6197	RPS6KA3	ORPHA:276630
HP:0001250	Seizure	6197	RPS6KA3	OMIM:303600
HP:0001250	Seizure	6197	RPS6KA3	ORPHA:192
HP:0001250	Seizure	6908	TBP	OMIM:607136
HP:0001250	Seizure	7915	ALDH5A1	OMIM:271980
HP:0001250	Seizure	5091	PC	OMIM:266150
HP:0001250	Seizure	149371	EXOC8	OMIM:619076
HP:0001250	Seizure	285175	UNC80	OMIM:616801
HP:0001250	Seizure	285175	UNC80	ORPHA:371364
HP:0001250	Seizure	8314	BAP1	ORPHA:2495
HP:0001250	Seizure	8314	BAP1	OMIM:619762
HP:0001250	Seizure	84231	TRAF7	ORPHA:2495
HP:0001250	Seizure	84231	TRAF7	OMIM:618164
HP:0001250	Seizure	6608	SMO	ORPHA:2495
HP:0001250	Seizure	7015	TERT	ORPHA:2495
HP:0001250	Seizure	1282	COL4A1	OMIM:175780
HP:0001250	Seizure	1282	COL4A1	ORPHA:899
HP:0001250	Seizure	4784	NFIX	ORPHA:420179
HP:0001250	Seizure	9719	ADAMTSL2	OMIM:231050
HP:0001250	Seizure	22859	ADGRL1	OMIM:620065
HP:0001250	Seizure	84992	PIGY	OMIM:616809
HP:0001250	Seizure	84992	PIGY	ORPHA:247262
HP:0001250	Seizure	10236	HNRNPR	OMIM:620073
HP:0001250	Seizure	58508	KMT2C	ORPHA:261652
HP:0001250	Seizure	58508	KMT2C	OMIM:617768
HP:0001250	Seizure	26227	PHGDH	OMIM:601815
HP:0001250	Seizure	1654	DDX3X	ORPHA:3338
HP:0001250	Seizure	1654	DDX3X	OMIM:300958
HP:0001250	Seizure	1654	DDX3X	ORPHA:457260
HP:0001250	Seizure	92002	CCNQ	ORPHA:140952
HP:0001250	Seizure	5591	PRKDC	OMIM:615966
HP:0001250	Seizure	25828	TXN2	OMIM:616811
HP:0001250	Seizure	114548	NLRP3	OMIM:607115
HP:0001250	Seizure	3187	HNRNPH1	OMIM:620083
HP:0001250	Seizure	63895	PIEZO2	OMIM:248700
HP:0001250	Seizure	11152	WDR45	OMIM:300894
HP:0001250	Seizure	11152	WDR45	ORPHA:329284
HP:0001250	Seizure	2937	GSS	OMIM:266130
HP:0001250	Seizure	7355	SLC35A2	OMIM:300896
HP:0001250	Seizure	7355	SLC35A2	ORPHA:356961
HP:0001250	Seizure	2778	GNAS	OMIM:612462
HP:0001250	Seizure	2778	GNAS	OMIM:103580
HP:0001250	Seizure	84317	CCDC115	OMIM:616828
HP:0001250	Seizure	92154	MTSS2	OMIM:620086
HP:0001250	Seizure	84978	FRMD5	OMIM:620094
HP:0001250	Seizure	6253	RTN2	ORPHA:100993
HP:0001250	Seizure	51271	UBAP1	ORPHA:100993
HP:0001250	Seizure	197322	ACSF3	ORPHA:289504
HP:0001250	Seizure	54413	NLGN3	OMIM:300425
HP:0001250	Seizure	10159	ATP6AP2	OMIM:300423
HP:0001250	Seizure	10159	ATP6AP2	ORPHA:363654
HP:0001250	Seizure	23503	ZFYVE26	ORPHA:100996
HP:0001250	Seizure	51004	COQ6	OMIM:614650
HP:0001250	Seizure	51004	COQ6	ORPHA:93921
HP:0001250	Seizure	2703	GJA8	OMIM:612474
HP:0001250	Seizure	2702	GJA5	OMIM:612474
HP:0001250	Seizure	57017	COQ9	OMIM:614654
HP:0001250	Seizure	55690	PACS1	ORPHA:329224
HP:0001250	Seizure	55690	PACS1	OMIM:615009
HP:0001250	Seizure	79738	BBS10	OMIM:615987
HP:0001250	Seizure	79738	BBS10	ORPHA:110
HP:0001250	Seizure	3720	JARID2	OMIM:620098
HP:0001250	Seizure	10878	CFHR3	OMIM:235400
HP:0001250	Seizure	3075	CFH	OMIM:235400
HP:0001250	Seizure	3078	CFHR1	OMIM:235400
HP:0001250	Seizure	6683	SPAST	ORPHA:100985
HP:0001250	Seizure	51621	KLF13	OMIM:612001
HP:0001250	Seizure	471	ATIC	ORPHA:250977
HP:0001250	Seizure	471	ATIC	OMIM:608688
HP:0001250	Seizure	51807	TUBA8	ORPHA:250972
HP:0001250	Seizure	85358	SHANK3	OMIM:606232
HP:0001250	Seizure	411	ARSB	OMIM:253200
HP:0001250	Seizure	549	AUH	ORPHA:67046
HP:0001250	Seizure	22880	MORC2	ORPHA:466768
HP:0001250	Seizure	55784	MCTP2	ORPHA:1596
HP:0001250	Seizure	56997	COQ8A	OMIM:612016
HP:0001250	Seizure	56997	COQ8A	ORPHA:139485
HP:0001250	Seizure	51010	EXOSC3	OMIM:614678
HP:0001250	Seizure	51010	EXOSC3	ORPHA:2254
HP:0001250	Seizure	1141	CHRNB2	OMIM:605375
HP:0001250	Seizure	51218	GLRX5	OMIM:616859
HP:0001250	Seizure	526	ATP6V1B2	ORPHA:79499
HP:0001250	Seizure	526	ATP6V1B2	ORPHA:3473
HP:0001250	Seizure	11253	MAN1B1	OMIM:614202
HP:0001250	Seizure	11253	MAN1B1	ORPHA:397941
HP:0001250	Seizure	7874	USP7	OMIM:616863
HP:0001250	Seizure	7874	USP7	ORPHA:500055
HP:0001250	Seizure	27315	PGAP2	OMIM:614207
HP:0001250	Seizure	27315	PGAP2	ORPHA:247262
HP:0001250	Seizure	4594	MMUT	OMIM:251000
HP:0001250	Seizure	4594	MMUT	ORPHA:79312
HP:0001250	Seizure	23400	ATP13A2	OMIM:606693
HP:0001250	Seizure	1641	DCX	OMIM:300067
HP:0001250	Seizure	1641	DCX	ORPHA:2148
HP:0001250	Seizure	1105	CHD1	ORPHA:529965
HP:0001250	Seizure	1105	CHD1	OMIM:617682
HP:0001250	Seizure	5718	PSMD12	ORPHA:529962
HP:0001250	Seizure	5718	PSMD12	OMIM:617516
HP:0001250	Seizure	2186	BPTF	ORPHA:529962
HP:0001250	Seizure	3758	KCNJ1	OMIM:241200
HP:0001250	Seizure	23065	EMC1	OMIM:616875
HP:0001250	Seizure	128989	TANGO2	OMIM:616878
HP:0001250	Seizure	128989	TANGO2	ORPHA:480864
HP:0001250	Seizure	80781	COL18A1	ORPHA:1571
HP:0001250	Seizure	80781	COL18A1	OMIM:267750
HP:0001250	Seizure	5062	PAK2	ORPHA:1571
HP:0001250	Seizure	5062	PAK2	OMIM:618458
HP:0001250	Seizure	5498	PPOX	ORPHA:79473
HP:0001250	Seizure	5498	PPOX	OMIM:620483
HP:0001250	Seizure	55644	OSGEP	OMIM:617729
HP:0001250	Seizure	55644	OSGEP	ORPHA:2065
HP:0001250	Seizure	57572	DOCK6	OMIM:614219
HP:0001250	Seizure	57572	DOCK6	ORPHA:974
HP:0001250	Seizure	4644	MYO5A	ORPHA:79476
HP:0001250	Seizure	4644	MYO5A	ORPHA:33445
HP:0001250	Seizure	4644	MYO5A	OMIM:214450
HP:0001250	Seizure	7074	TIAM1	OMIM:619908
HP:0001250	Seizure	59336	PRDM13	OMIM:619909
HP:0001250	Seizure	59336	PRDM13	OMIM:619761
HP:0001250	Seizure	3835	KIF22	ORPHA:93360
HP:0001250	Seizure	2464	FRA16E	OMIM:136570
HP:0001250	Seizure	79784	MYH14	ORPHA:397744
HP:0001250	Seizure	112858	TP53RK	OMIM:617730
HP:0001250	Seizure	112858	TP53RK	ORPHA:2065
HP:0001250	Seizure	81562	LMAN2L	OMIM:616887
HP:0001250	Seizure	163786	SASS6	OMIM:616402
HP:0001250	Seizure	490	ATP2B1	OMIM:619910
HP:0001250	Seizure	4929	NR4A2	OMIM:619911
HP:0001250	Seizure	4929	NR4A2	ORPHA:1617
HP:0001250	Seizure	6925	TCF4	ORPHA:2896
HP:0001250	Seizure	6925	TCF4	OMIM:610954
HP:0001250	Seizure	26047	CNTNAP2	ORPHA:163681
HP:0001250	Seizure	26047	CNTNAP2	OMIM:610042
HP:0001250	Seizure	23209	MLC1	OMIM:604004
HP:0001250	Seizure	2316	FLNA	OMIM:300049
HP:0001250	Seizure	2316	FLNA	OMIM:300048
HP:0001250	Seizure	51124	IER3IP1	OMIM:614231
HP:0001250	Seizure	2890	GRIA1	OMIM:619927
HP:0001250	Seizure	2890	GRIA1	OMIM:619931
HP:0001250	Seizure	54805	CNNM2	OMIM:616418
HP:0001250	Seizure	55164	SHQ1	OMIM:619922
HP:0001250	Seizure	2767	GNA11	ORPHA:1556
HP:0001250	Seizure	151188	ARL6IP6	ORPHA:1556
HP:0001250	Seizure	3756	KCNH1	ORPHA:420561
HP:0001250	Seizure	3756	KCNH1	OMIM:135500
HP:0001250	Seizure	3756	KCNH1	ORPHA:3473
HP:0001250	Seizure	3756	KCNH1	OMIM:611816
HP:0001250	Seizure	5495	PPM1B	ORPHA:163693
HP:0001250	Seizure	6519	SLC3A1	ORPHA:163693
HP:0001250	Seizure	9581	PREPL	ORPHA:163693
HP:0001250	Seizure	79823	CAMKMT	ORPHA:163693
HP:0001250	Seizure	29929	ALG6	OMIM:603147
HP:0001250	Seizure	29929	ALG6	ORPHA:79320
HP:0001250	Seizure	10717	AP4B1	ORPHA:280763
HP:0001250	Seizure	10717	AP4B1	OMIM:614066
HP:0001250	Seizure	11154	AP4S1	ORPHA:280763
HP:0001250	Seizure	4841	NONO	ORPHA:466791
HP:0001250	Seizure	4841	NONO	OMIM:300967
HP:0001250	Seizure	57502	NLGN4X	OMIM:300495
HP:0001250	Seizure	9320	TRIP12	OMIM:617752
HP:0001250	Seizure	5879	RAC1	OMIM:617751
HP:0001250	Seizure	5879	RAC1	ORPHA:500159
HP:0001250	Seizure	440	ASNS	OMIM:615574
HP:0001250	Seizure	5538	PPT1	OMIM:256730
HP:0001250	Seizure	5455	POU3F3	OMIM:618604
HP:0001250	Seizure	1203	CLN5	OMIM:256731
HP:0001250	Seizure	5430	POLR2A	OMIM:618603
HP:0001250	Seizure	3265	HRAS	ORPHA:2874
HP:0001250	Seizure	3265	HRAS	OMIM:163200
HP:0001250	Seizure	3265	HRAS	ORPHA:2612
HP:0001250	Seizure	23529	CLCF1	ORPHA:1545
HP:0001250	Seizure	22827	PUF60	OMIM:615583
HP:0001250	Seizure	22827	PUF60	ORPHA:508488
HP:0001250	Seizure	50484	RRM2B	OMIM:612075
HP:0001250	Seizure	50484	RRM2B	ORPHA:254892
HP:0001250	Seizure	547	KIF1A	OMIM:614255
HP:0001250	Seizure	10369	CACNG2	OMIM:614256
HP:0001250	Seizure	1497	CTNS	ORPHA:411634
HP:0001250	Seizure	26235	FBXL4	OMIM:615471
HP:0001250	Seizure	55823	VPS11	ORPHA:466934
HP:0001250	Seizure	5238	PGM3	ORPHA:443811
HP:0001250	Seizure	9254	CACNA2D2	OMIM:618501
HP:0001250	Seizure	5927	KDM5A	OMIM:620820
HP:0001250	Seizure	91801	ALKBH8	OMIM:618504
HP:0001250	Seizure	4072	EPCAM	ORPHA:144
HP:0001250	Seizure	4292	MLH1	ORPHA:144
HP:0001250	Seizure	5395	PMS2	ORPHA:144
HP:0001250	Seizure	7048	TGFBR2	ORPHA:144
HP:0001250	Seizure	2956	MSH6	ORPHA:144
HP:0001250	Seizure	5378	PMS1	ORPHA:144
HP:0001250	Seizure	4436	MSH2	ORPHA:144
HP:0001250	Seizure	4552	MTRR	OMIM:236270
HP:0001250	Seizure	4552	MTRR	ORPHA:2169
HP:0001250	Seizure	65993	MRPS34	OMIM:617664
HP:0001250	Seizure	80816	ASXL3	OMIM:615485
HP:0001250	Seizure	80816	ASXL3	ORPHA:352577
HP:0001250	Seizure	1855	DVL1	OMIM:616331
HP:0001250	Seizure	387787	LIPT2	OMIM:617668
HP:0001250	Seizure	1841	DTYMK	OMIM:619847
HP:0001250	Seizure	64072	CDH23	ORPHA:2965
HP:0001250	Seizure	64072	CDH23	ORPHA:91347
HP:0001250	Seizure	9049	AIP	ORPHA:2965
HP:0001250	Seizure	55904	KMT2E	OMIM:618512
HP:0001250	Seizure	10686	CLDN16	OMIM:248250
HP:0001250	Seizure	51112	TRAPPC12	OMIM:617669
HP:0001250	Seizure	51112	TRAPPC12	ORPHA:500144
HP:0001250	Seizure	57082	KNL1	OMIM:604321
HP:0001250	Seizure	100996717	NOTCH2NLC	OMIM:603472
HP:0001250	Seizure	100996717	NOTCH2NLC	ORPHA:2289
HP:0001250	Seizure	55650	PIGV	OMIM:239300
HP:0001250	Seizure	55650	PIGV	ORPHA:247262
HP:0001250	Seizure	284403	WDR62	OMIM:604317
HP:0001250	Seizure	410	ARSA	ORPHA:309271
HP:0001250	Seizure	410	ARSA	ORPHA:309263
HP:0001250	Seizure	410	ARSA	OMIM:250100
HP:0001250	Seizure	410	ARSA	ORPHA:309256
HP:0001250	Seizure	348	APOE	OMIM:607822
HP:0001250	Seizure	288	ANK3	OMIM:615493
HP:0001250	Seizure	288	ANK3	ORPHA:356996
HP:0001250	Seizure	23250	ATP11A	OMIM:619851
HP:0001250	Seizure	818	CAMK2G	OMIM:618522
HP:0001250	Seizure	5105	PCK1	OMIM:261680
HP:0001250	Seizure	1020	CDK5	OMIM:616342
HP:0001250	Seizure	7343	UBTF	OMIM:617672
HP:0001250	Seizure	7343	UBTF	ORPHA:500180
HP:0001250	Seizure	7994	KAT6A	ORPHA:457193
HP:0001250	Seizure	7994	KAT6A	OMIM:616268
HP:0001250	Seizure	2770	GNAI1	OMIM:619854
HP:0001250	Seizure	1716	DGUOK	OMIM:251880
HP:0001250	Seizure	4566	MT-TK	OMIM:545000
HP:0001250	Seizure	4566	MT-TK	ORPHA:255210
HP:0001250	Seizure	4565	MT-TI	OMIM:545000
HP:0001250	Seizure	4567	MT-TL1	OMIM:545000
HP:0001250	Seizure	4567	MT-TL1	ORPHA:550
HP:0001250	Seizure	4567	MT-TL1	ORPHA:255210
HP:0001250	Seizure	4567	MT-TL1	ORPHA:324525
HP:0001250	Seizure	4571	MT-TP	OMIM:545000
HP:0001250	Seizure	4558	MT-TF	OMIM:545000
HP:0001250	Seizure	4558	MT-TF	ORPHA:550
HP:0001250	Seizure	1193	CLIC2	ORPHA:324410
HP:0001250	Seizure	5528	PPP2R5D	OMIM:616355
HP:0001250	Seizure	5528	PPP2R5D	ORPHA:457279
HP:0001250	Seizure	23327	NEDD4L	OMIM:617201
HP:0001250	Seizure	80776	B9D2	OMIM:614175
HP:0001250	Seizure	80776	B9D2	ORPHA:475
HP:0001250	Seizure	8216	LZTR1	ORPHA:93921
HP:0001250	Seizure	8216	LZTR1	OMIM:605275
HP:0001250	Seizure	1201	CLN3	OMIM:204200
HP:0001250	Seizure	11193	WBP4	OMIM:620852
HP:0001250	Seizure	23007	PLCH1	ORPHA:93925
HP:0001250	Seizure	10716	TBR1	ORPHA:1617
HP:0001250	Seizure	26834	RNU4-2	OMIM:620851
HP:0001250	Seizure	788	SLC25A20	ORPHA:159
HP:0001250	Seizure	788	SLC25A20	OMIM:212138
HP:0001250	Seizure	4854	NOTCH3	OMIM:125310
HP:0001250	Seizure	4854	NOTCH3	ORPHA:136
HP:0001250	Seizure	92482	BBIP1	ORPHA:110
HP:0001250	Seizure	11020	IFT27	ORPHA:110
HP:0001250	Seizure	582	BBS1	ORPHA:110
HP:0001250	Seizure	49855	SCAPER	ORPHA:110
HP:0001250	Seizure	51057	WDPCP	ORPHA:110
HP:0001250	Seizure	132320	SCLT1	ORPHA:110
HP:0001250	Seizure	27241	BBS9	ORPHA:110
HP:0001250	Seizure	84984	CEP19	ORPHA:110
HP:0001250	Seizure	22954	TRIM32	ORPHA:110
HP:0001250	Seizure	123016	TTC8	ORPHA:110
HP:0001250	Seizure	26160	IFT172	ORPHA:110
HP:0001250	Seizure	583	BBS2	ORPHA:110
HP:0001250	Seizure	585	BBS4	ORPHA:110
HP:0001250	Seizure	8195	MKKS	ORPHA:110
HP:0001250	Seizure	54585	LZTFL1	ORPHA:110
HP:0001250	Seizure	55212	BBS7	ORPHA:110
HP:0001250	Seizure	166379	BBS12	ORPHA:110
HP:0001250	Seizure	10806	SDCCAG8	ORPHA:110
HP:0001250	Seizure	157657	CFAP418	ORPHA:110
HP:0001250	Seizure	84100	ARL6	ORPHA:110
HP:0001250	Seizure	129880	BBS5	ORPHA:110
HP:0001250	Seizure	80173	IFT74	ORPHA:110
HP:0001250	Seizure	80173	IFT74	ORPHA:475
HP:0001250	Seizure	5518	PPP2R1A	OMIM:616362
HP:0001250	Seizure	5518	PPP2R1A	ORPHA:457284
HP:0001250	Seizure	26038	CHD5	OMIM:619873
HP:0001250	Seizure	3590	IL11RA	OMIM:614188
HP:0001250	Seizure	23126	POGZ	OMIM:616364
HP:0001250	Seizure	23126	POGZ	ORPHA:468678
HP:0001250	Seizure	55773	TBC1D23	OMIM:617695
HP:0001250	Seizure	8558	CDK10	OMIM:617694
HP:0001250	Seizure	92609	TIMM50	OMIM:617698
HP:0001250	Seizure	92609	TIMM50	ORPHA:505216
HP:0001250	Seizure	51692	CPSF3	OMIM:619876
HP:0001250	Seizure	5590	PRKCZ	ORPHA:1606
HP:0001250	Seizure	2563	GABRD	ORPHA:1606
HP:0001250	Seizure	23013	SPEN	ORPHA:1606
HP:0001250	Seizure	23013	SPEN	OMIM:619312
HP:0001250	Seizure	8510	MMP23B	ORPHA:1606
HP:0001250	Seizure	7798	LUZP1	ORPHA:1606
HP:0001250	Seizure	6497	SKI	ORPHA:1606
HP:0001250	Seizure	10630	PDPN	ORPHA:1606
HP:0001250	Seizure	3339	HSPG2	ORPHA:1606
HP:0001250	Seizure	10277	UBE4B	ORPHA:1606
HP:0001250	Seizure	8514	KCNAB2	ORPHA:1606
HP:0001250	Seizure	63976	PRDM16	ORPHA:1606
HP:0001250	Seizure	54897	CASZ1	ORPHA:1606
HP:0001250	Seizure	845	CASQ2	OMIM:604772
HP:0001250	Seizure	845	CASQ2	OMIM:611938
HP:0001250	Seizure	6262	RYR2	OMIM:604772
HP:0001250	Seizure	148789	B3GALNT2	ORPHA:588
HP:0001250	Seizure	148789	B3GALNT2	ORPHA:899
HP:0001250	Seizure	9215	LARGE1	ORPHA:588
HP:0001250	Seizure	9215	LARGE1	OMIM:236670
HP:0001250	Seizure	9215	LARGE1	ORPHA:899
HP:0001250	Seizure	729920	CRPPA	ORPHA:588
HP:0001250	Seizure	729920	CRPPA	ORPHA:899
HP:0001250	Seizure	1859	DYRK1A	ORPHA:464311
HP:0001250	Seizure	1859	DYRK1A	ORPHA:268261
HP:0001250	Seizure	1859	DYRK1A	OMIM:614104
HP:0001250	Seizure	1822	ATN1	ORPHA:101
HP:0001250	Seizure	1822	ATN1	OMIM:125370
HP:0001250	Seizure	1822	ATN1	OMIM:618494
HP:0001250	Seizure	285362	SUMF1	ORPHA:585
HP:0001250	Seizure	472	ATM	ORPHA:100
HP:0001250	Seizure	472	ATM	ORPHA:440437
HP:0001250	Seizure	472	ATM	OMIM:208900
HP:0001250	Seizure	55210	ATAD3A	ORPHA:496790
HP:0001250	Seizure	55210	ATAD3A	OMIM:618810
HP:0001250	Seizure	8818	DPM2	OMIM:615042
HP:0001250	Seizure	9276	COPB2	OMIM:619884
HP:0001250	Seizure	56098	PCDHGC4	OMIM:619880
HP:0001250	Seizure	27068	PPA2	OMIM:617222
HP:0001250	Seizure	4285	MIPEP	OMIM:617228
HP:0001250	Seizure	3773	KCNJ16	OMIM:619406
HP:0001250	Seizure	38	ACAT1	ORPHA:134
HP:0001250	Seizure	5354	PLP1	OMIM:312080
HP:0001250	Seizure	326	AIRE	OMIM:240300
HP:0001250	Seizure	1758	DMP1	ORPHA:289176
HP:0001250	Seizure	5167	ENPP1	ORPHA:289176
HP:0001250	Seizure	5167	ENPP1	ORPHA:51608
HP:0001250	Seizure	64919	BCL11B	OMIM:617237
HP:0001250	Seizure	29960	MRM2	OMIM:618567
HP:0001250	Seizure	374969	SVBP	OMIM:618569
HP:0001250	Seizure	84295	PHF6	ORPHA:127
HP:0001250	Seizure	84295	PHF6	OMIM:301900
HP:0001250	Seizure	286204	CRB2	OMIM:219730
HP:0001250	Seizure	1967	EIF2B1	OMIM:603896
HP:0001250	Seizure	10533	ATG7	OMIM:619422
HP:0001250	Seizure	205327	C2orf69	OMIM:619423
HP:0001250	Seizure	5881	RAC3	OMIM:618577
HP:0001250	Seizure	26173	INTS1	OMIM:618571
HP:0001250	Seizure	55656	INTS8	OMIM:618572
HP:0001250	Seizure	171546	SPTSSA	OMIM:620416
HP:0001250	Seizure	171546	SPTSSA	OMIM:620417
HP:0001250	Seizure	27429	HTRA2	OMIM:617248
HP:0001250	Seizure	4212	MEIS2	ORPHA:261190
HP:0001250	Seizure	3242	HPD	OMIM:276710
HP:0001250	Seizure	389827	MYMK	OMIM:254940
HP:0001250	Seizure	4126	MANBA	ORPHA:118
HP:0001250	Seizure	4126	MANBA	OMIM:248510
HP:0001250	Seizure	149233	IL23R	ORPHA:117
HP:0001250	Seizure	6775	STAT4	ORPHA:117
HP:0001250	Seizure	6775	STAT4	ORPHA:536
HP:0001250	Seizure	6775	STAT4	ORPHA:93552
HP:0001250	Seizure	3586	IL10	ORPHA:117
HP:0001250	Seizure	3586	IL10	ORPHA:536
HP:0001250	Seizure	1230	CCR1	ORPHA:117
HP:0001250	Seizure	3592	IL12A	ORPHA:117
HP:0001250	Seizure	101928376	IL12A-AS1	ORPHA:117
HP:0001250	Seizure	7099	TLR4	ORPHA:117
HP:0001250	Seizure	3459	IFNGR1	ORPHA:117
HP:0001250	Seizure	720	C4A	ORPHA:117
HP:0001250	Seizure	720	C4A	ORPHA:536
HP:0001250	Seizure	337867	UBAC2	ORPHA:117
HP:0001250	Seizure	51752	ERAP1	ORPHA:117
HP:0001250	Seizure	8302	KLRC4	ORPHA:117
HP:0001250	Seizure	291	SLC25A4	ORPHA:254892
HP:0001250	Seizure	291	SLC25A4	OMIM:617184
HP:0001250	Seizure	11232	POLG2	ORPHA:254892
HP:0001250	Seizure	11232	POLG2	OMIM:610131
HP:0001250	Seizure	9361	LONP1	OMIM:600373
HP:0001250	Seizure	9361	LONP1	ORPHA:79243
HP:0001250	Seizure	9488	PIGB	OMIM:618580
HP:0001250	Seizure	4572	MT-TQ	ORPHA:550
HP:0001250	Seizure	4512	MT-CO1	ORPHA:550
HP:0001250	Seizure	4513	MT-CO2	ORPHA:550
HP:0001250	Seizure	4514	MT-CO3	ORPHA:550
HP:0001250	Seizure	4578	MT-TW	ORPHA:550
HP:0001250	Seizure	4578	MT-TW	ORPHA:255210
HP:0001250	Seizure	4540	MT-ND5	ORPHA:550
HP:0001250	Seizure	4540	MT-ND5	ORPHA:255210
HP:0001250	Seizure	4541	MT-ND6	ORPHA:550
HP:0001250	Seizure	4541	MT-ND6	ORPHA:255210
HP:0001250	Seizure	4535	MT-ND1	ORPHA:550
HP:0001250	Seizure	4535	MT-ND1	ORPHA:255210
HP:0001250	Seizure	4538	MT-ND4	ORPHA:550
HP:0001250	Seizure	4538	MT-ND4	ORPHA:255210
HP:0001250	Seizure	4574	MT-TS1	ORPHA:550
HP:0001250	Seizure	4574	MT-TS1	OMIM:220110
HP:0001250	Seizure	4575	MT-TS2	ORPHA:550
HP:0001250	Seizure	4564	MT-TH	ORPHA:550
HP:0001250	Seizure	84894	LINGO1	OMIM:618103
HP:0001250	Seizure	160418	TMTC3	OMIM:617255
HP:0001250	Seizure	123606	NIPA1	ORPHA:261183
HP:0001250	Seizure	123606	NIPA1	OMIM:600363
HP:0001250	Seizure	7283	TUBG1	ORPHA:261183
HP:0001250	Seizure	7283	TUBG1	OMIM:615412
HP:0001250	Seizure	81614	NIPA2	ORPHA:261183
HP:0001250	Seizure	54973	INTS11	OMIM:620428
HP:0001250	Seizure	92335	STRADA	ORPHA:500533
HP:0001250	Seizure	92335	STRADA	OMIM:611087
HP:0001250	Seizure	6418	SET	OMIM:618106
HP:0001250	Seizure	2653	GCSH	OMIM:620423
HP:0001250	Seizure	9526	MPDU1	OMIM:609180
HP:0001250	Seizure	9526	MPDU1	ORPHA:79323
HP:0001250	Seizure	60675	PROK2	OMIM:610628
HP:0001250	Seizure	60675	PROK2	ORPHA:478
HP:0001250	Seizure	201294	UNC13D	ORPHA:540
HP:0001250	Seizure	6813	STXBP2	ORPHA:540
HP:0001250	Seizure	1120	CHKB	OMIM:602541
HP:0001250	Seizure	128869	PIGU	OMIM:618590
HP:0001250	Seizure	745	MYRF	OMIM:618113
HP:0001250	Seizure	5649	RELN	ORPHA:89844
HP:0001250	Seizure	10300	KATNB1	ORPHA:89844
HP:0001250	Seizure	10300	KATNB1	OMIM:616212
HP:0001250	Seizure	54820	NDE1	ORPHA:89844
HP:0001250	Seizure	54820	NDE1	ORPHA:2177
HP:0001250	Seizure	54820	NDE1	OMIM:614019
HP:0001250	Seizure	57520	HECW2	OMIM:617268
HP:0001250	Seizure	5053	PAH	OMIM:261600
HP:0001250	Seizure	5053	PAH	ORPHA:79254
HP:0001250	Seizure	5053	PAH	ORPHA:2209
HP:0001250	Seizure	4952	OCRL	ORPHA:534
HP:0001250	Seizure	4952	OCRL	OMIM:309000
HP:0001250	Seizure	2215	FCGR3B	ORPHA:536
HP:0001250	Seizure	3684	ITGAM	ORPHA:536
HP:0001250	Seizure	221895	JAZF1	ORPHA:536
HP:0001250	Seizure	7292	TNFSF4	ORPHA:536
HP:0001250	Seizure	640	BLK	ORPHA:536
HP:0001250	Seizure	55024	BANK1	ORPHA:536
HP:0001250	Seizure	3500	IGHG1	ORPHA:536
HP:0001250	Seizure	3654	IRAK1	ORPHA:536
HP:0001250	Seizure	3654	IRAK1	ORPHA:93552
HP:0001250	Seizure	1380	CR2	ORPHA:536
HP:0001250	Seizure	5133	PDCD1	ORPHA:536
HP:0001250	Seizure	2113	ETS1	ORPHA:536
HP:0001250	Seizure	10318	TNIP1	ORPHA:536
HP:0001250	Seizure	7332	UBE2L3	ORPHA:536
HP:0001250	Seizure	79932	KIAA0319L	ORPHA:536
HP:0001250	Seizure	3663	IRF5	ORPHA:536
HP:0001250	Seizure	3123	HLA-DRB1	ORPHA:536
HP:0001250	Seizure	721	C4B	ORPHA:536
HP:0001250	Seizure	51284	TLR7	ORPHA:536
HP:0001250	Seizure	6696	SPP1	ORPHA:536
HP:0001250	Seizure	6696	SPP1	ORPHA:93552
HP:0001250	Seizure	54899	PXK	ORPHA:536
HP:0001250	Seizure	7128	TNFAIP3	ORPHA:536
HP:0001250	Seizure	537	ATP6AP1	OMIM:300972
HP:0001250	Seizure	1621	DBH	OMIM:223360
HP:0001250	Seizure	51704	GPRC5B	OMIM:620447
HP:0001250	Seizure	361	AQP4	OMIM:620448
HP:0001250	Seizure	3376	IARS1	ORPHA:541423
HP:0001250	Seizure	3376	IARS1	OMIM:617093
HP:0001250	Seizure	9675	TTI1	OMIM:620445
HP:0001250	Seizure	1312	COMT	ORPHA:567
HP:0001250	Seizure	221037	JMJD1C	ORPHA:567
HP:0001250	Seizure	6239	RREB1	ORPHA:567
HP:0001250	Seizure	6899	TBX1	ORPHA:567
HP:0001250	Seizure	6899	TBX1	ORPHA:1727
HP:0001250	Seizure	6899	TBX1	OMIM:188400
HP:0001250	Seizure	7290	HIRA	ORPHA:567
HP:0001250	Seizure	9632	SEC24C	ORPHA:567
HP:0001250	Seizure	7353	UFD1	ORPHA:567
HP:0001250	Seizure	421	ARVCF	ORPHA:567
HP:0001250	Seizure	8260	NAA10	ORPHA:568
HP:0001250	Seizure	8260	NAA10	OMIM:309800
HP:0001250	Seizure	54880	BCOR	ORPHA:568
HP:0001250	Seizure	54880	BCOR	OMIM:300166
HP:0001250	Seizure	54880	BCOR	OMIM:309800
HP:0001250	Seizure	538	ATP7A	ORPHA:565
HP:0001250	Seizure	538	ATP7A	OMIM:304150
HP:0001250	Seizure	538	ATP7A	OMIM:309400
HP:0001250	Seizure	80311	KLHL15	OMIM:300982
HP:0001250	Seizure	6045	RNF2	OMIM:619460
HP:0001250	Seizure	6557	SLC12A1	OMIM:601678
HP:0001250	Seizure	5631	PRPS1	OMIM:301835
HP:0001250	Seizure	7161	TP73	OMIM:619466
HP:0001250	Seizure	2009	EML1	OMIM:600348
HP:0001250	Seizure	9758	FRMPD4	OMIM:300983
HP:0001250	Seizure	3188	HNRNPH2	OMIM:300986
HP:0001250	Seizure	1974	EIF4A2	OMIM:620455
HP:0001250	Seizure	4548	MTR	OMIM:250940
HP:0001250	Seizure	6874	TAF4	OMIM:620450
HP:0001250	Seizure	84065	TMEM222	OMIM:619470
HP:0001250	Seizure	57187	THOC2	OMIM:300957
HP:0001250	Seizure	57187	THOC2	ORPHA:457240
HP:0001250	Seizure	2892	GRIA3	ORPHA:364028
HP:0001250	Seizure	2892	GRIA3	OMIM:300699
HP:0001250	Seizure	4576	MT-TT	ORPHA:254857
HP:0001250	Seizure	348180	CTU2	OMIM:618142
HP:0001250	Seizure	54539	NDUFB11	OMIM:300952
HP:0001250	Seizure	54539	NDUFB11	ORPHA:2556
HP:0001250	Seizure	54539	NDUFB11	OMIM:309801
HP:0001250	Seizure	94005	PIGS	OMIM:618143
HP:0001250	Seizure	6711	SPTBN1	OMIM:619475
HP:0001250	Seizure	378884	NHLRC1	ORPHA:501
HP:0001250	Seizure	7957	EPM2A	ORPHA:501
HP:0001250	Seizure	10682	EBP	OMIM:300960
HP:0001250	Seizure	10682	EBP	ORPHA:401973
HP:0001250	Seizure	2222	FDFT1	OMIM:618156
HP:0001250	Seizure	6872	TAF1	OMIM:300966
HP:0001250	Seizure	6872	TAF1	ORPHA:480907
HP:0001250	Seizure	8567	MADD	OMIM:619004
HP:0001250	Seizure	8567	MADD	OMIM:619005
HP:0001250	Seizure	2760	GM2A	ORPHA:309246
HP:0001250	Seizure	2760	GM2A	OMIM:272750
HP:0001250	Seizure	5058	PAK1	OMIM:618158
HP:0001250	Seizure	8239	USP9X	OMIM:300968
HP:0001250	Seizure	8239	USP9X	ORPHA:480880
HP:0001250	Seizure	79152	FA2H	ORPHA:171629
HP:0001250	Seizure	79152	FA2H	OMIM:612319
HP:0001250	Seizure	9373	PLAA	ORPHA:521426
HP:0001250	Seizure	9373	PLAA	OMIM:617527
HP:0001250	Seizure	2998	GYS2	ORPHA:2089
HP:0001250	Seizure	2998	GYS2	OMIM:240600
HP:0001250	Seizure	57038	RARS2	OMIM:611523
HP:0001250	Seizure	3145	HMBS	OMIM:176000
HP:0001250	Seizure	3145	HMBS	ORPHA:79276
HP:0001250	Seizure	10681	GNB5	ORPHA:542306
HP:0001250	Seizure	10681	GNB5	OMIM:617173
HP:0001250	Seizure	10681	GNB5	OMIM:617182
HP:0001250	Seizure	60	ACTB	OMIM:620475
HP:0001250	Seizure	60	ACTB	OMIM:243310
HP:0001250	Seizure	60	ACTB	ORPHA:2995
HP:0001250	Seizure	3516	RBPJ	ORPHA:974
HP:0001250	Seizure	57514	ARHGAP31	ORPHA:974
HP:0001250	Seizure	57514	ARHGAP31	OMIM:100300
HP:0001250	Seizure	285203	EOGT	ORPHA:974
HP:0001250	Seizure	54567	DLL4	ORPHA:974
HP:0001250	Seizure	1200	TPP1	ORPHA:284324
HP:0001250	Seizure	1200	TPP1	OMIM:204500
HP:0001250	Seizure	3090	HIC1	ORPHA:531
HP:0001250	Seizure	5048	PAFAH1B1	ORPHA:531
HP:0001250	Seizure	5048	PAFAH1B1	ORPHA:95232
HP:0001250	Seizure	5048	PAFAH1B1	OMIM:607432
HP:0001250	Seizure	7531	YWHAE	ORPHA:531
HP:0001250	Seizure	23387	SIK3	OMIM:618162
HP:0001250	Seizure	63899	NSUN3	OMIM:619012
HP:0001250	Seizure	727676	SNORD118	ORPHA:542310
HP:0001250	Seizure	727676	SNORD118	OMIM:614561
HP:0001250	Seizure	11043	MID2	OMIM:300928
HP:0001250	Seizure	84081	NSRP1	OMIM:620001
HP:0001250	Seizure	54936	ADPRS	OMIM:618170
HP:0001250	Seizure	114034	TOE1	ORPHA:284339
HP:0001250	Seizure	114034	TOE1	OMIM:614969
HP:0001250	Seizure	3839	KPNA3	ORPHA:171612
HP:0001250	Seizure	84842	HPDL	OMIM:619026
HP:0001250	Seizure	5860	QDPR	OMIM:261630
HP:0001250	Seizure	1496	CTNNA2	OMIM:618174
HP:0001250	Seizure	83550	GPR101	OMIM:300942
HP:0001250	Seizure	6559	SLC12A3	OMIM:263800
HP:0001250	Seizure	79693	YRDC	ORPHA:2065
HP:0001250	Seizure	51002	TPRKB	ORPHA:2065
HP:0001250	Seizure	57122	NUP107	ORPHA:2065
HP:0001250	Seizure	84520	GON7	ORPHA:2065
HP:0001250	Seizure	8270	LAGE3	ORPHA:2065
HP:0001250	Seizure	8270	LAGE3	OMIM:301006
HP:0001250	Seizure	55294	FBXW7	OMIM:620012
HP:0001250	Seizure	9898	UBAP2L	OMIM:620494
HP:0001250	Seizure	6095	RORA	OMIM:618060
HP:0001250	Seizure	1183	CLCN4	OMIM:300114
HP:0001250	Seizure	1183	CLCN4	ORPHA:485350
HP:0001250	Seizure	5393	EXOSC9	OMIM:618065
HP:0001250	Seizure	5393	EXOSC9	ORPHA:2254
HP:0001250	Seizure	10312	TCIRG1	OMIM:259700
HP:0001250	Seizure	123263	MTFMT	OMIM:614947
HP:0001250	Seizure	80232	WDR26	ORPHA:513456
HP:0001250	Seizure	80232	WDR26	OMIM:617616
HP:0001250	Seizure	1278	COL1A2	ORPHA:230851
HP:0001250	Seizure	9693	RAPGEF2	OMIM:618075
HP:0001250	Seizure	51506	UFC1	OMIM:618076
HP:0001250	Seizure	63916	ELMO2	ORPHA:3019
HP:0001250	Seizure	4010	LMX1B	ORPHA:495818
HP:0001250	Seizure	4010	LMX1B	ORPHA:2614
HP:0001250	Seizure	80055	PGAP1	OMIM:615802
HP:0001250	Seizure	6662	SOX9	OMIM:114290
HP:0001250	Seizure	10978	CLP1	OMIM:615803
HP:0001250	Seizure	10978	CLP1	ORPHA:411493
HP:0001250	Seizure	10225	CD96	OMIM:211750
HP:0001250	Seizure	10225	CD96	ORPHA:1308
HP:0001250	Seizure	275	AMT	OMIM:620398
HP:0001250	Seizure	271	AMPD2	OMIM:615809
HP:0001250	Seizure	93210	PGAP3	ORPHA:247262
HP:0001250	Seizure	93210	PGAP3	OMIM:615716
HP:0001250	Seizure	8913	CACNA1G	OMIM:618087
HP:0001250	Seizure	64207	IRF2BPL	OMIM:618088
HP:0001250	Seizure	80204	FBXO11	OMIM:618089
HP:0001250	Seizure	5624	PROC	OMIM:612304
HP:0001250	Seizure	1509	CTSD	OMIM:610127
HP:0001250	Seizure	501	ALDH7A1	ORPHA:3006
HP:0001250	Seizure	11212	PLPBP	ORPHA:3006
HP:0001250	Seizure	57531	HACE1	ORPHA:464282
HP:0001250	Seizure	57531	HACE1	OMIM:616756
HP:0001250	Seizure	7852	CXCR4	ORPHA:51636
HP:0001250	Seizure	1009	CDH11	ORPHA:1299
HP:0001250	Seizure	84300	UQCC2	OMIM:615824
HP:0001250	Seizure	113235	SLC46A1	OMIM:229050
HP:0001250	Seizure	113235	SLC46A1	ORPHA:90045
HP:0001250	Seizure	4036	LRP2	ORPHA:2143
HP:0001250	Seizure	4036	LRP2	OMIM:222448
HP:0001250	Seizure	3782	KCNN3	ORPHA:3473
HP:0001250	Seizure	54496	PRMT7	ORPHA:464288
HP:0001250	Seizure	593	BCKDHA	OMIM:248600
HP:0001250	Seizure	5063	PAK3	OMIM:300558
HP:0001250	Seizure	9508	ADAMTS3	ORPHA:2136
HP:0001250	Seizure	79633	FAT4	ORPHA:2136
HP:0001250	Seizure	4519	MT-CYB	ORPHA:137675
HP:0001250	Seizure	79753	SNIP1	OMIM:614501
HP:0001250	Seizure	3418	IDH2	OMIM:613657
HP:0001250	Seizure	10056	FARSB	OMIM:613658
HP:0001250	Seizure	3748	KCNC3	ORPHA:98768
HP:0001250	Seizure	493856	CISD2	ORPHA:3463
HP:0001250	Seizure	7466	WFS1	ORPHA:3463
HP:0001250	Seizure	7466	WFS1	OMIM:222300
HP:0001250	Seizure	10436	EMG1	ORPHA:1270
HP:0001250	Seizure	81887	LAS1L	ORPHA:3459
HP:0001250	Seizure	440138	ALG11	OMIM:613661
HP:0001250	Seizure	440138	ALG11	ORPHA:280071
HP:0001250	Seizure	5627	PROS1	OMIM:614514
HP:0001250	Seizure	2050	EPHB4	ORPHA:137667
HP:0001250	Seizure	5921	RASA1	ORPHA:137667
HP:0001250	Seizure	3708	ITPR1	OMIM:117360
HP:0001250	Seizure	3708	ITPR1	OMIM:206700
HP:0001250	Seizure	9440	MED17	OMIM:613668
HP:0001250	Seizure	3662	IRF4	ORPHA:3452
HP:0001250	Seizure	4846	NOS3	OMIM:189800
HP:0001250	Seizure	8813	DPM1	OMIM:608799
HP:0001250	Seizure	8813	DPM1	ORPHA:79322
HP:0001250	Seizure	57393	CLTRN	ORPHA:2116
HP:0001250	Seizure	440193	CCDC88C	OMIM:236600
HP:0001250	Seizure	2146	EZH2	OMIM:277590
HP:0001250	Seizure	445	ASS1	OMIM:215700
HP:0001250	Seizure	64116	SLC39A8	ORPHA:468699
HP:0001250	Seizure	64116	SLC39A8	OMIM:616721
HP:0001250	Seizure	5832	ALDH18A1	ORPHA:447753
HP:0001250	Seizure	5832	ALDH18A1	OMIM:219150
HP:0001250	Seizure	28962	OSTM1	OMIM:259720
HP:0001250	Seizure	28962	OSTM1	ORPHA:85179
HP:0001250	Seizure	55023	PHIP	ORPHA:589905
HP:0001250	Seizure	80331	DNAJC5	OMIM:162350
HP:0001250	Seizure	54704	PDP1	OMIM:608782
HP:0001250	Seizure	8600	TNFSF11	OMIM:259710
HP:0001250	Seizure	91949	COG7	OMIM:608779
HP:0001250	Seizure	91949	COG7	ORPHA:79333
HP:0001250	Seizure	79796	ALG9	OMIM:608776
HP:0001250	Seizure	79796	ALG9	ORPHA:79328
HP:0001250	Seizure	59	ACTA2	ORPHA:2573
HP:0001250	Seizure	57674	RNF213	ORPHA:2573
HP:0001250	Seizure	1776	DNASE1L3	ORPHA:36412
HP:0001250	Seizure	26115	TANC2	OMIM:618906
HP:0001250	Seizure	55593	OTUD5	OMIM:301056
HP:0001250	Seizure	889	KRIT1	ORPHA:221061
HP:0001250	Seizure	889	KRIT1	OMIM:116860
HP:0001250	Seizure	5160	PDHA1	OMIM:312170
HP:0001250	Seizure	5160	PDHA1	ORPHA:79243
HP:0001250	Seizure	998	CDC42	OMIM:616737
HP:0001250	Seizure	998	CDC42	ORPHA:487796
HP:0001250	Seizure	10982	MAPRE2	OMIM:616734
HP:0001250	Seizure	79731	NARS2	ORPHA:79134
HP:0001250	Seizure	79731	NARS2	OMIM:616239
HP:0001250	Seizure	4694	NDUFA1	OMIM:301020
HP:0001250	Seizure	27235	COQ2	OMIM:607426
HP:0001250	Seizure	63035	BCORL1	OMIM:301029
HP:0001250	Seizure	1778	DYNC1H1	OMIM:614563
HP:0001250	Seizure	3796	KIF2A	OMIM:615411
HP:0001250	Seizure	10616	RBCK1	OMIM:615895
HP:0001250	Seizure	80746	TSEN2	OMIM:612389
HP:0001250	Seizure	80746	TSEN2	ORPHA:2524
HP:0001250	Seizure	100506658	OCLN	ORPHA:1229
HP:0001250	Seizure	100506658	OCLN	OMIM:251290
HP:0001250	Seizure	1349	COX7B	ORPHA:2556
HP:0001250	Seizure	1349	COX7B	OMIM:309801
HP:0001250	Seizure	3052	HCCS	ORPHA:2556
HP:0001250	Seizure	3052	HCCS	OMIM:309801
HP:0001250	Seizure	51185	CRBN	OMIM:607417
HP:0001250	Seizure	5422	POLA1	OMIM:301030
HP:0001250	Seizure	10943	MSL3	OMIM:301032
HP:0001250	Seizure	57511	COG6	OMIM:614576
HP:0001250	Seizure	83696	TRAPPC9	ORPHA:352530
HP:0001250	Seizure	83696	TRAPPC9	OMIM:613192
HP:0001250	Seizure	56479	KCNQ5	OMIM:617601
HP:0001250	Seizure	9343	EFTUD2	ORPHA:79113
HP:0001250	Seizure	9343	EFTUD2	OMIM:610536
HP:0001250	Seizure	23476	BRD4	ORPHA:199
HP:0001250	Seizure	6878	TAF6	ORPHA:199
HP:0001250	Seizure	157680	VPS13B	ORPHA:193
HP:0001250	Seizure	157680	VPS13B	OMIM:216550
HP:0001250	Seizure	71	ACTG1	OMIM:614583
HP:0001250	Seizure	71	ACTG1	ORPHA:2995
HP:0001250	Seizure	368	ABCC6	ORPHA:51608
HP:0001250	Seizure	81689	ISCA1	OMIM:617613
HP:0001250	Seizure	64857	PLEKHG2	OMIM:616763
HP:0001250	Seizure	51520	LARS1	OMIM:615438
HP:0001250	Seizure	25914	RTTN	ORPHA:468631
HP:0001250	Seizure	25914	RTTN	OMIM:614833
HP:0001250	Seizure	23545	ATP6V0A2	OMIM:219200
HP:0001250	Seizure	23545	ATP6V0A2	ORPHA:357074
HP:0001250	Seizure	63932	STEEP1	OMIM:301013
HP:0001250	Seizure	26503	SLC17A5	OMIM:604369
HP:0001250	Seizure	26503	SLC17A5	OMIM:269920
HP:0001250	Seizure	55617	TASP1	OMIM:618950
HP:0001250	Seizure	6182	MRPL12	OMIM:618951
HP:0001250	Seizure	79042	TSEN34	ORPHA:2524
HP:0001250	Seizure	80210	ARMC9	OMIM:617622
HP:0001250	Seizure	80210	ARMC9	ORPHA:475
HP:0001250	Seizure	3832	KIF11	ORPHA:2526
HP:0001250	Seizure	4190	MDH1	OMIM:618959
HP:0001250	Seizure	5654	HTRA1	OMIM:616779
HP:0001250	Seizure	9681	DEPDC5	OMIM:604364
HP:0001250	Seizure	617	BCS1L	OMIM:124000
HP:0001250	Seizure	113246	C12orf57	OMIM:218340
HP:0001250	Seizure	259266	ASPM	OMIM:608716
HP:0001250	Seizure	652	BMP4	ORPHA:139471
HP:0001250	Seizure	8192	CLPP	OMIM:614129
HP:0001250	Seizure	85378	TUBGCP6	ORPHA:2518
HP:0001250	Seizure	85378	TUBGCP6	OMIM:251270
HP:0001250	Seizure	27229	TUBGCP4	ORPHA:2518
HP:0001250	Seizure	9939	RBM8A	OMIM:274000
HP:0001250	Seizure	22930	RAB3GAP1	ORPHA:2510
HP:0001250	Seizure	25782	RAB3GAP2	ORPHA:2510
HP:0001250	Seizure	22931	RAB18	ORPHA:2510
HP:0001250	Seizure	9451	EIF2AK3	ORPHA:1667
HP:0001250	Seizure	11141	IL1RAPL1	OMIM:300143
HP:0001250	Seizure	23309	SIN3B	ORPHA:500166
HP:0001250	Seizure	8884	SLC5A6	OMIM:618973
HP:0001250	Seizure	55367	PIDD1	OMIM:619827
HP:0001250	Seizure	84148	KAT8	OMIM:618974
HP:0001250	Seizure	5274	SERPINI1	OMIM:604218
HP:0001250	Seizure	29899	GPSM2	OMIM:604213
HP:0001250	Seizure	23141	ANKLE2	OMIM:616681
HP:0001250	Seizure	104	ADARB1	OMIM:618862
HP:0001250	Seizure	50651	SLC45A1	OMIM:617532
HP:0001250	Seizure	57468	SLC12A5	OMIM:616685
HP:0001250	Seizure	57468	SLC12A5	OMIM:616645
HP:0001250	Seizure	5723	PSPH	OMIM:614023
HP:0001250	Seizure	8518	ELP1	ORPHA:1764
HP:0001250	Seizure	60684	TRAPPC11	OMIM:615356
HP:0001250	Seizure	60684	TRAPPC11	ORPHA:369847
HP:0001250	Seizure	10973	ASCC3	OMIM:620700
HP:0001250	Seizure	347733	TUBB2B	ORPHA:1766
HP:0001250	Seizure	347733	TUBB2B	ORPHA:300573
HP:0001250	Seizure	347733	TUBB2B	OMIM:610031
HP:0001250	Seizure	124997	WDR81	ORPHA:1766
HP:0001250	Seizure	51761	ATP8A2	ORPHA:1766
HP:0001250	Seizure	767	CA8	ORPHA:1766
HP:0001250	Seizure	4536	MT-ND2	ORPHA:255210
HP:0001250	Seizure	4537	MT-ND3	ORPHA:255210
HP:0001250	Seizure	4577	MT-TV	ORPHA:255210
HP:0001250	Seizure	3158	HMGCS2	ORPHA:35701
HP:0001250	Seizure	3158	HMGCS2	OMIM:605911
HP:0001250	Seizure	116931	MED12L	OMIM:618872
HP:0001250	Seizure	249	ALPL	OMIM:241500
HP:0001250	Seizure	249	ALPL	OMIM:241510
HP:0001250	Seizure	3020	H3-3A	OMIM:619720
HP:0001250	Seizure	8722	CTSF	OMIM:615362
HP:0001250	Seizure	1644	DDC	ORPHA:35708
HP:0001250	Seizure	10026	PIGK	OMIM:618879
HP:0001250	Seizure	64218	SEMA4A	ORPHA:440437
HP:0001250	Seizure	675	BRCA2	ORPHA:440437
HP:0001250	Seizure	657	BMPR1A	ORPHA:440437
HP:0001250	Seizure	6224	RPS20	ORPHA:440437
HP:0001250	Seizure	4595	MUTYH	ORPHA:440437
HP:0001250	Seizure	5424	POLD1	ORPHA:440437
HP:0001250	Seizure	11200	CHEK2	ORPHA:440437
HP:0001250	Seizure	375387	NRROS	OMIM:618875
HP:0001250	Seizure	10501	SEMA6B	OMIM:618876
HP:0001250	Seizure	5610	EIF2AK2	OMIM:618877
HP:0001250	Seizure	10381	TUBB3	OMIM:614039
HP:0001250	Seizure	10381	TUBB3	ORPHA:300570
HP:0001250	Seizure	140803	TRPM6	OMIM:602014
HP:0001250	Seizure	2590	GALNT2	OMIM:618885
HP:0001250	Seizure	9692	PRORP	OMIM:619737
HP:0001250	Seizure	6773	STAT2	OMIM:618886
HP:0001250	Seizure	51319	RSRC1	OMIM:618402
HP:0001250	Seizure	8560	DEGS1	OMIM:618404
HP:0001250	Seizure	7020	TFAP2A	OMIM:113620
HP:0001250	Seizure	8726	EED	OMIM:617561
HP:0001250	Seizure	84504	NKX6-2	OMIM:617560
HP:0001250	Seizure	84504	NKX6-2	ORPHA:527497
HP:0001250	Seizure	4297	KMT2A	ORPHA:319182
HP:0001250	Seizure	4297	KMT2A	OMIM:605130
HP:0001250	Seizure	833	CARS1	OMIM:618891
HP:0001250	Seizure	284439	SLC25A42	OMIM:618416
HP:0001250	Seizure	79600	TCTN1	ORPHA:475
HP:0001250	Seizure	200894	ARL13B	ORPHA:475
HP:0001250	Seizure	9731	CEP104	ORPHA:475
HP:0001250	Seizure	219844	HYLS1	ORPHA:475
HP:0001250	Seizure	23247	KATNIP	ORPHA:475
HP:0001250	Seizure	219854	TMEM218	ORPHA:475
HP:0001250	Seizure	9786	KIAA0586	ORPHA:475
HP:0001250	Seizure	79867	TCTN2	ORPHA:475
HP:0001250	Seizure	10464	PIBF1	ORPHA:475
HP:0001250	Seizure	23116	TOGARAM1	ORPHA:475
HP:0001250	Seizure	25776	CBY1	ORPHA:475
HP:0001250	Seizure	27077	B9D1	ORPHA:475
HP:0001250	Seizure	403	ARL3	ORPHA:475
HP:0001250	Seizure	339983	NAT8L	OMIM:614063
HP:0001250	Seizure	8879	SGPL1	OMIM:617575
HP:0001250	Seizure	51604	PIGT	OMIM:615398
HP:0001250	Seizure	57282	SLC4A10	OMIM:620746
HP:0001250	Seizure	391356	PTRHD1	OMIM:620747
HP:0001250	Seizure	8021	NUP214	OMIM:618426
HP:0001250	Seizure	2643	GCH1	OMIM:233910
HP:0001250	Seizure	8364	H4C3	OMIM:619758
HP:0001250	Seizure	85365	ALG2	ORPHA:79326
HP:0001250	Seizure	8733	GPAA1	ORPHA:529665
HP:0001250	Seizure	27086	FOXP1	ORPHA:391372
HP:0001250	Seizure	6942	TCF20	OMIM:618430
HP:0001250	Seizure	51341	ZBTB7A	OMIM:619769
HP:0001250	Seizure	7841	MOGS	ORPHA:79330
HP:0001250	Seizure	7841	MOGS	OMIM:606056
HP:0001250	Seizure	9338	TCEAL1	OMIM:301094
HP:0001250	Seizure	540	ATP7B	OMIM:277900
HP:0001250	Seizure	540	ATP7B	ORPHA:905
HP:0001250	Seizure	7030	TFE3	OMIM:301066
HP:0001250	Seizure	51651	PTRH2	OMIM:616263
HP:0001250	Seizure	54941	RNF125	OMIM:616260
HP:0001250	Seizure	8131	NPRL3	OMIM:617118
HP:0001250	Seizure	10641	NPRL2	OMIM:617116
HP:0001250	Seizure	10195	ALG3	ORPHA:79321
HP:0001250	Seizure	10195	ALG3	OMIM:601110
HP:0001250	Seizure	79087	ALG12	ORPHA:79324
HP:0001250	Seizure	79053	ALG8	ORPHA:79325
HP:0001250	Seizure	9896	FIG4	ORPHA:208441
HP:0001250	Seizure	8295	TRRAP	OMIM:618454
HP:0001250	Seizure	3658	IREB2	OMIM:618451
HP:0001250	Seizure	221078	NSUN6	OMIM:620779
HP:0001250	Seizure	55770	EXOC2	OMIM:619306
HP:0001250	Seizure	27145	FILIP1	OMIM:620775
HP:0001250	Seizure	1801	DPH1	ORPHA:459061
HP:0001250	Seizure	1802	DPH2	ORPHA:459061
HP:0001250	Seizure	10371	SEMA3A	ORPHA:478
HP:0001250	Seizure	81848	SPRY4	ORPHA:478
HP:0001250	Seizure	23767	FLRT3	ORPHA:478
HP:0001250	Seizure	79625	NDNF	ORPHA:478
HP:0001250	Seizure	389549	FEZF1	ORPHA:478
HP:0001250	Seizure	3730	ANOS1	ORPHA:478
HP:0001250	Seizure	54756	IL17RD	ORPHA:478
HP:0001250	Seizure	285025	CCDC141	ORPHA:478
HP:0001250	Seizure	55636	CHD7	ORPHA:478
HP:0001250	Seizure	1848	DUSP6	ORPHA:478
HP:0001250	Seizure	6870	TACR3	ORPHA:478
HP:0001250	Seizure	9394	HS6ST1	ORPHA:478
HP:0001250	Seizure	8822	FGF17	ORPHA:478
HP:0001250	Seizure	84706	GPT2	OMIM:616281
HP:0001250	Seizure	84706	GPT2	ORPHA:477673
HP:0001250	Seizure	5898	RALA	OMIM:619311
HP:0001250	Seizure	1317	SLC31A1	OMIM:620306
HP:0001250	Seizure	85476	GFM1	OMIM:609060
HP:0001250	Seizure	2355	FOSL2	OMIM:620789
HP:0001250	Seizure	79903	NAA60	OMIM:620786
HP:0001250	Seizure	11267	SNF8	OMIM:620784
HP:0001250	Seizure	11267	SNF8	OMIM:620783
HP:0001250	Seizure	84320	ACBD6	OMIM:620785
HP:0001250	Seizure	10102	TSFM	OMIM:610505
HP:0001250	Seizure	256297	PTF1A	OMIM:609069
HP:0001250	Seizure	22854	NTNG1	ORPHA:3095
HP:0001250	Seizure	23102	TBC1D2B	OMIM:619323
HP:0001250	Seizure	29998	BICRA	OMIM:619325
HP:0001250	Seizure	6651	SON	OMIM:617140
HP:0001250	Seizure	23030	KDM4B	OMIM:619320
HP:0001250	Seizure	7453	WARS1	OMIM:620317
HP:0001250	Seizure	29968	PSAT1	OMIM:610992
HP:0001250	Seizure	29968	PSAT1	ORPHA:284417
HP:0001250	Seizure	157922	CAMSAP1	OMIM:620316
HP:0001250	Seizure	8891	EIF2B3	OMIM:620313
HP:0001250	Seizure	5698	PSMB9	OMIM:620796
HP:0001250	Seizure	6263	RYR3	OMIM:620310
HP:0001250	Seizure	10166	SLC25A15	ORPHA:415
HP:0001250	Seizure	84892	POMGNT2	ORPHA:899
HP:0001250	Seizure	10329	RXYLT1	ORPHA:899
HP:0001250	Seizure	1605	DAG1	ORPHA:899
HP:0001250	Seizure	4942	OAT	ORPHA:414
HP:0001250	Seizure	1725	DHPS	OMIM:618480
HP:0001250	Seizure	28982	FLVCR1	ORPHA:88628
HP:0001250	Seizure	4621	MYH3	OMIM:193700
HP:0001250	Seizure	2560	GABRB1	OMIM:617153
HP:0001250	Seizure	23221	RHOBTB2	OMIM:618004
HP:0001250	Seizure	2530	FUT8	OMIM:618005
HP:0001250	Seizure	34	ACADM	OMIM:201450
HP:0001250	Seizure	7965	AIMP2	OMIM:618006
HP:0001250	Seizure	10157	AASS	OMIM:238700
HP:0001250	Seizure	10157	AASS	ORPHA:3124
HP:0001250	Seizure	10157	AASS	ORPHA:2203
HP:0001250	Seizure	1781	DYNC1I2	OMIM:618492
HP:0001250	Seizure	372	ARCN1	OMIM:617164
HP:0001250	Seizure	3977	LIFR	OMIM:601559
HP:0001250	Seizure	5283	PIGH	OMIM:618010
HP:0001250	Seizure	5144	PDE4D	ORPHA:439822
HP:0001250	Seizure	84668	HYCC1	OMIM:610532
HP:0001250	Seizure	1938	EEF2	ORPHA:101112
HP:0001250	Seizure	35	ACADS	OMIM:201470
HP:0001250	Seizure	35	ACADS	ORPHA:26792
HP:0001250	Seizure	145173	B3GLCT	OMIM:261540
HP:0001250	Seizure	128240	NAXE	OMIM:617186
HP:0001250	Seizure	3198	HOXA1	OMIM:601536
HP:0001250	Seizure	79143	MBOAT7	OMIM:617188
HP:0001250	Seizure	539	ATP5PO	OMIM:620359
HP:0001250	Seizure	55252	ASXL2	OMIM:617190
HP:0001250	Seizure	1650	DDOST	ORPHA:300536
HP:0001250	Seizure	6904	TBCD	OMIM:617193
HP:0001250	Seizure	51371	POMP	OMIM:618048
HP:0001250	Seizure	2733	GLE1	OMIM:611890
HP:0001250	Seizure	55005	RMND1	OMIM:614922
HP:0001250	Seizure	3295	HSD17B4	OMIM:261515
HP:0001250	Seizure	10295	BCKDK	OMIM:614923
HP:0001250	Seizure	124454	EARS2	OMIM:614924
HP:0001250	Seizure	55074	OXR1	OMIM:213000
HP:0001250	Seizure	5076	PAX2	OMIM:120330
HP:0001250	Seizure	11011	TLK2	OMIM:618050
HP:0001250	Seizure	23040	MYT1L	ORPHA:647799
HP:0001250	Seizure	27072	VPS41	OMIM:619389
HP:0001250	Seizure	9054	NFS1	OMIM:619386
HP:0001250	Seizure	221927	BRAT1	OMIM:618056
HP:0001250	Seizure	267	AMFR	OMIM:620379
HP:0001250	Seizure	161742	SPRED1	ORPHA:137605
HP:0001250	Seizure	90952	ESAM	OMIM:620371
HP:0001250	Seizure	11113	CIT	OMIM:617090
HP:0001250	Seizure	4702	NDUFA8	OMIM:619272
HP:0001250	Seizure	27183	VPS4A	OMIM:619273
HP:0001250	Seizure	10128	LRPPRC	OMIM:220111
HP:0001250	Seizure	10128	LRPPRC	ORPHA:70472
HP:0001250	Seizure	4570	MT-TN	OMIM:220110
HP:0001250	Seizure	6834	SURF1	OMIM:220110
HP:0001250	Seizure	132158	GLYCTK	ORPHA:941
HP:0001250	Seizure	132158	GLYCTK	OMIM:220120
HP:0001250	Seizure	9442	MED27	OMIM:619286
HP:0001250	Seizure	64601	VPS16	OMIM:619291
HP:0001250	Seizure	7084	TK2	OMIM:609560
HP:0001250	Seizure	22897	CEP164	OMIM:614845
HP:0001250	Seizure	36	ACADSB	OMIM:610006
HP:0001250	Seizure	7276	TTR	OMIM:105210
HP:0001250	Seizure	5095	PCCA	OMIM:606054
HP:0001250	Seizure	5096	PCCB	OMIM:606054
HP:0001250	Seizure	26523	AGO1	OMIM:620292
HP:0001250	Seizure	776	CACNA1D	ORPHA:369929
HP:0001250	Seizure	51199	NIN	OMIM:614851
HP:0001250	Seizure	51199	NIN	ORPHA:319675
HP:0001250	Seizure	65998	ZFTA	ORPHA:251636
HP:0001250	Seizure	22995	CEP152	OMIM:614852
HP:0001250	Seizure	4338	MOCS2	OMIM:252160
HP:0001250	Seizure	2752	GLUL	OMIM:610015
HP:0001250	Seizure	9255	AIMP1	OMIM:260600
HP:0001250	Seizure	11340	EXOSC8	ORPHA:2254
HP:0001250	Seizure	23287	AGTPBP1	ORPHA:2254
HP:0001250	Seizure	7443	VRK1	ORPHA:2254
HP:0001250	Seizure	91137	SLC25A46	ORPHA:2254
HP:0001250	Seizure	5297	PI4KA	ORPHA:98889
HP:0001250	Seizure	5297	PI4KA	OMIM:619708
HP:0001250	Seizure	3115	HLA-DPB1	ORPHA:900
HP:0001250	Seizure	5657	PRTN3	ORPHA:900
HP:0001250	Seizure	3113	HLA-DPA1	ORPHA:900
HP:0001250	Seizure	728294	D2HGDH	OMIM:600721
HP:0001250	Seizure	9095	TBX19	OMIM:201400
HP:0001250	Seizure	5230	PGK1	OMIM:300653
HP:0001250	Seizure	10165	SLC25A13	ORPHA:247585
HP:0001250	Seizure	50628	GEMIN4	OMIM:617913
HP:0001250	Seizure	51574	LARP7	ORPHA:319671
HP:0001250	Seizure	3329	HSPD1	OMIM:612233
HP:0001250	Seizure	10695	CNPY3	OMIM:617929
HP:0001250	Seizure	7507	XPA	ORPHA:910
HP:0001250	Seizure	2071	ERCC3	ORPHA:910
HP:0001250	Seizure	7508	XPC	ORPHA:910
HP:0001250	Seizure	1643	DDB2	ORPHA:910
HP:0001250	Seizure	9698	PUM1	OMIM:617931
HP:0001250	Seizure	100151683	RNU4ATAC	OMIM:210710
HP:0001250	Seizure	100151683	RNU4ATAC	ORPHA:2636
HP:0001250	Seizure	53616	ADAM22	OMIM:617933
HP:0001250	Seizure	6303	SAT1	ORPHA:93552
HP:0001250	Seizure	27249	MMADHC	OMIM:277410
HP:0001250	Seizure	27249	MMADHC	ORPHA:79283
HP:0001250	Seizure	55187	VPS13D	OMIM:607317
HP:0001250	Seizure	7280	TUBB2A	OMIM:615763
HP:0001250	Seizure	4953	ODC1	ORPHA:544488
HP:0001250	Seizure	2592	GALT	ORPHA:79239
HP:0001250	Seizure	9512	PMPCB	OMIM:617954
HP:0001250	Seizure	2058	EPRS1	OMIM:617951
HP:0001250	Seizure	6335	SCN9A	ORPHA:46348
HP:0001250	Seizure	11280	SCN11A	ORPHA:46348
HP:0001250	Seizure	20	ABCA2	OMIM:618808
HP:0001250	Seizure	54664	TMEM106B	OMIM:617964
HP:0001250	Seizure	84818	IL17RC	ORPHA:1334
HP:0001250	Seizure	64581	CLEC7A	ORPHA:1334
HP:0001250	Seizure	23765	IL17RA	ORPHA:1334
HP:0001250	Seizure	10758	TRAF3IP2	ORPHA:1334
HP:0001250	Seizure	112744	IL17F	ORPHA:1334
HP:0001250	Seizure	190	NR0B1	ORPHA:95702
HP:0001250	Seizure	6785	ELOVL4	OMIM:614457
HP:0001250	Seizure	27010	TPK1	OMIM:614458
HP:0001250	Seizure	54658	UGT1A1	ORPHA:79234
HP:0001250	Seizure	2584	GALK1	ORPHA:79237
HP:0001250	Seizure	11019	LIAS	OMIM:614462
HP:0001250	Seizure	4337	MOCS1	OMIM:252150
HP:0001250	Seizure	3704	ITPA	OMIM:616647
HP:0001250	Seizure	56270	WDR45B	OMIM:617977
HP:0001250	Seizure	22934	RPIA	OMIM:608611
HP:0001250	Seizure	8405	SPOP	OMIM:618829
HP:0001250	Seizure	5162	PDHB	ORPHA:255138
HP:0001250	Seizure	23310	NCAPD3	OMIM:617984
HP:0001250	Seizure	6509	SLC1A4	OMIM:616657
HP:0001250	Seizure	2645	GCK	ORPHA:79299
HP:0001250	Seizure	126792	B3GALT6	ORPHA:536467
HP:0001250	Seizure	529	ATP6V1E1	ORPHA:357074
HP:0001250	Seizure	200205	IBA57	OMIM:615330
HP:0001250	Seizure	84631	SLITRK2	OMIM:301107
HP:0001250	Seizure	51780	KDM3B	OMIM:618846
HP:0001250	Seizure	5116	PCNT	ORPHA:2637
HP:0001250	Seizure	25974	MMACHC	ORPHA:79282
HP:0001250	Seizure	25974	MMACHC	OMIM:277400
HP:0001250	Seizure	63929	XPNPEP3	OMIM:613159
HP:0001250	Seizure	51294	PCDH12	OMIM:251280
HP:0001250	Seizure	55788	LMBRD1	ORPHA:79284
HP:0001250	Seizure	57731	SPTBN4	OMIM:617519
HP:0001250	Seizure	1807	DPYS	OMIM:222748
HP:0001250	Seizure	9130	FAM50A	OMIM:300261
HP:0001250	Seizure	51733	UPB1	OMIM:613161
HP:0001250	Seizure	18	ABAT	OMIM:613163
HP:0001250	Seizure	7543	ZFX	OMIM:301118
HP:0001250	Seizure	8738	CRADD	OMIM:614499
HP:0001250	Seizure	4858	NOVA2	OMIM:618859
HP:0001250	Seizure	22868	FASTKD2	OMIM:618855
HP:0001250	Seizure	1371	CPOX	ORPHA:79273
HP:0001250	Seizure	5052	PRDX1	OMIM:277400
HP:0001250	Seizure	55901	THSD1	ORPHA:231160
HP:0001250	Seizure	7049	TGFBR3	ORPHA:231160
HP:0001250	Seizure	83854	ANGPTL6	ORPHA:231160
HP:0001250	Seizure	401474	SAMD12	OMIM:601068
HP:0001250	Seizure	2562	GABRB3	ORPHA:64280
HP:0001250	Seizure	2562	GABRB3	ORPHA:2382
HP:0001250	Seizure	2562	GABRB3	OMIM:617113
HP:0001250	Seizure	2554	GABRA1	ORPHA:64280
HP:0001250	Seizure	8912	CACNA1H	ORPHA:64280
HP:0001250	Seizure	8629	JRK	ORPHA:64280
HP:0001250	Seizure	81555	YIPF5	OMIM:619278
HP:0001250	Seizure	785	CACNB4	OMIM:613855
HP:0001250	Seizure	785	CACNB4	OMIM:607682
HP:0001250	Seizure	2997	GYS1	OMIM:611556
HP:0001250	Seizure	55325	UFSP2	OMIM:620028
HP:0001250	Seizure	55733	HHAT	OMIM:600092
HP:0001250	Seizure	23236	PLCB1	ORPHA:293181
HP:0001250	Seizure	23236	PLCB1	OMIM:613722
HP:0001250	Seizure	57582	KCNT1	ORPHA:293181
HP:0001250	Seizure	57582	KCNT1	ORPHA:98784
HP:0001250	Seizure	154881	KCTD7	ORPHA:263516
HP:0001250	Seizure	387119	CEP85L	OMIM:618873
HP:0001250	Seizure	24137	KIF4A	OMIM:300923
HP:0001250	Seizure	6487	ST3GAL3	OMIM:615006
HP:0001250	Seizure	1106	CHD2	OMIM:615369
HP:0001250	Seizure	1106	CHD2	ORPHA:2382
HP:0001250	Seizure	10565	ARFGEF1	OMIM:619964
HP:0001250	Seizure	3781	KCNN2	OMIM:619725
HP:0001250	Seizure	1476	CSTB	OMIM:254800
HP:0001250	Seizure	4511	MT-TC	OMIM:540000
HP:0001250	Seizure	9211	LGI1	OMIM:600512
HP:0001250	Seizure	9211	LGI1	ORPHA:101046
HP:0001250	Seizure	64780	MICAL1	OMIM:600512
HP:0001250	Seizure	3899	AFF3	OMIM:619297
HP:0001250	Seizure	1757	SARDH	ORPHA:3129
HP:0001250	Seizure	815	CAMK2A	OMIM:617798
HP:0001250	Seizure	10939	AFG3L2	ORPHA:313772
HP:0001250	Seizure	10939	AFG3L2	OMIM:614487
HP:0001250	Seizure	80856	LNPK	OMIM:618090
HP:0001250	Seizure	10087	CERT1	OMIM:616351
HP:0001250	Seizure	10715	CERS1	OMIM:616230
HP:0001250	Seizure	5602	MAPK10	ORPHA:2382
HP:0001250	Seizure	23316	CUX2	ORPHA:2382
HP:0001250	Seizure	23316	CUX2	OMIM:618141
HP:0001250	Seizure	283987	HID1	OMIM:619983
HP:0001250	Seizure	4697	NDUFA4	OMIM:619065
HP:0001250	Seizure	124512	METTL23	OMIM:615942
HP:0001250	Seizure	112755	STX1B	ORPHA:36387
HP:0001250	Seizure	112755	STX1B	OMIM:616172
HP:0001250	Seizure	2258	FGF13	ORPHA:36387
HP:0001250	Seizure	2258	FGF13	OMIM:301058
HP:0001250	Seizure	84059	ADGRV1	ORPHA:36387
HP:0001250	Seizure	84059	ADGRV1	OMIM:604352
HP:0001250	Seizure	610	HCN2	OMIM:602477
HP:0001250	Seizure	84138	SLC7A6OS	OMIM:619191
HP:0001250	Seizure	1182	CLCN3	OMIM:619512
HP:0001250	Seizure	9354	UBE4A	OMIM:619639
HP:0001250	Seizure	116115	ZNF526	OMIM:619877
HP:0001250	Seizure	7701	ZNF142	OMIM:618425
HP:0001250	Seizure	83475	DOHH	OMIM:620066
HP:0001250	Seizure	51611	DPH5	OMIM:620070
HP:0001250	Seizure	163175	LGI4	OMIM:617468
HP:0001250	Seizure	9772	TMEM94	OMIM:618316
HP:0001250	Seizure	2556	GABRA3	OMIM:301091
HP:0001250	Seizure	8218	CLTCL1	ORPHA:453510
HP:0001250	Seizure	85440	DOCK7	OMIM:615859
HP:0001250	Seizure	114327	EFHC1	ORPHA:1941
HP:0001250	Seizure	114327	EFHC1	OMIM:254770
HP:0001250	Seizure	2742	GLRA2	OMIM:301076
HP:0001250	Seizure	51645	PPIL1	OMIM:619301
HP:0001250	Seizure	51362	CDC40	OMIM:619302
HP:0001250	Seizure	27133	KCNH5	OMIM:620537
HP:0001250	Seizure	22858	CILK1	OMIM:617924
HP:0001250	Seizure	57094	CPA6	OMIM:614417
HP:0001250	Seizure	57094	CPA6	OMIM:614418
HP:0001250	Seizure	9900	SV2A	OMIM:620772
HP:0001250	Seizure	57526	PCDH19	ORPHA:101039
HP:0001250	Seizure	57526	PCDH19	OMIM:300088
HP:0001250	Seizure	1173	AP2M1	OMIM:618587
HP:0001250	Seizure	56896	DPYSL5	OMIM:619435
HP:0001250	Seizure	4967	OGDH	OMIM:203740
HP:0001250	Seizure	3786	KCNQ3	ORPHA:306
HP:0001250	Seizure	3786	KCNQ3	OMIM:121201
HP:0001250	Seizure	5515	PPP2CA	OMIM:618354
HP:0001250	Seizure	4695	NDUFA2	OMIM:618235
HP:0001250	Seizure	6900	CNTN2	OMIM:615400
HP:0001250	Seizure	29078	NDUFAF4	OMIM:618237
HP:0001250	Seizure	50	ACO2	OMIM:614559
HP:0001250	Seizure	6301	SARS1	OMIM:617709
HP:0001250	Seizure	6774	STAT3	ORPHA:99885
HP:0001250	Seizure	3651	PDX1	ORPHA:99885
HP:0001250	Seizure	3630	INS	ORPHA:99885
HP:0001250	Seizure	2891	GRIA2	OMIM:618917
HP:0001250	Seizure	8869	ST3GAL5	OMIM:609056
HP:0001250	Seizure	3746	KCNC1	OMIM:616187
HP:0001250	Seizure	23229	ARHGEF9	OMIM:300607
HP:0001250	Seizure	3183	HNRNPC	OMIM:620688
HP:0001250	Seizure	51608	GET4	OMIM:620200
HP:0001250	Seizure	3431	SP110	ORPHA:79124
HP:0001250	Seizure	6821	SUOX	OMIM:272300
HP:0001250	Seizure	2898	GRIK2	OMIM:619580
HP:0001250	Seizure	1135	CHRNA2	ORPHA:98784
HP:0001250	Seizure	57010	CABP4	ORPHA:98784
HP:0001250	Seizure	1392	CRH	ORPHA:98784
HP:0001250	Seizure	23258	DENND5A	OMIM:617281
HP:0001250	Seizure	135	ADORA2A	ORPHA:363549
HP:0001250	Seizure	23152	CIC	OMIM:617600
HP:0001250	Seizure	208	AKT2	OMIM:240900
HP:0001250	Seizure	9256	TSPOAP1	OMIM:620453
HP:0001250	Seizure	60386	SLC25A19	ORPHA:99742
HP:0001250	Seizure	79736	TEFM	OMIM:620451
HP:0001250	Seizure	64864	RFX7	OMIM:620330
HP:0001250	Seizure	50801	KCNK4	OMIM:618381
HP:0001250	Seizure	10771	ZMYND11	OMIM:616083
HP:0001250	Seizure	8943	AP3D1	OMIM:617050
HP:0001250	Seizure	37	ACADVL	OMIM:201475
HP:0001250	Seizure	5281	PIGF	OMIM:619356
HP:0001250	Seizure	527	ATP6V0C	OMIM:620465
HP:0001250	Seizure	6050	RNH1	OMIM:620461
HP:0001250	Seizure	56910	STARD7	OMIM:607876
HP:0001250	Seizure	122553	TRAPPC6B	OMIM:617862
HP:0001250	Seizure	23067	SETD1B	OMIM:619000
HP:0001250	Seizure	10319	LAMC3	OMIM:614115
HP:0001250	Seizure	55704	CCDC88A	OMIM:617507
HP:0001250	Seizure	54676	GTPBP2	OMIM:617988
HP:0001250	Seizure	1284	COL4A2	OMIM:614483
HP:0001250	Seizure	4724	NDUFS4	OMIM:252010
HP:0001250	Seizure	4750	NEK1	ORPHA:2751
HP:0001250	Seizure	79587	CARS2	OMIM:616672
HP:0001250	Seizure	25978	CHMP2B	ORPHA:275864
HP:0001250	Seizure	8878	SQSTM1	ORPHA:275864
HP:0001250	Seizure	4137	MAPT	ORPHA:275864
HP:0001250	Seizure	7415	VCP	ORPHA:275864
HP:0001250	Seizure	8449	DHX16	OMIM:618733
HP:0001250	Seizure	55753	OGDHL	OMIM:619701
HP:0001250	Seizure	9570	GOSR2	OMIM:614018
HP:0001250	Seizure	10299	MARCHF6	OMIM:613608
HP:0001250	Seizure	4791	NFKB2	ORPHA:293978
HP:0001250	Seizure	54344	DPM3	OMIM:618992
HP:0001250	Seizure	6609	SMPD1	ORPHA:77293
HP:0001250	Seizure	80224	NUBPL	OMIM:618242
HP:0001250	Seizure	2664	GDI1	OMIM:300849
HP:0001250	Seizure	1954	MEGF8	OMIM:614976
HP:0001250	Seizure	23443	SLC35A3	OMIM:615553
HP:0001250	Seizure	23443	SLC35A3	ORPHA:370943
HP:0001250	Seizure	57459	GATAD2B	ORPHA:363686
HP:0001250	Seizure	1719	DHFR	OMIM:613839
HP:0001250	Seizure	93183	PIGM	OMIM:610293
HP:0001250	Seizure	4549	MT-RNR1	ORPHA:551
HP:0001250	Seizure	5293	PIK3CD	ORPHA:221139
HP:0001250	Seizure	5293	PIK3CD	OMIM:613328
HP:0001250	Seizure	90417	KNSTRN	ORPHA:221139
HP:0001250	Seizure	90417	KNSTRN	OMIM:613328
HP:0001250	Seizure	256471	MFSD8	OMIM:610951
HP:0001250	Seizure	54802	TRIT1	OMIM:617873
HP:0001250	Seizure	27247	NFU1	OMIM:620938
HP:0001250	Seizure	1181	CLCN2	ORPHA:307
HP:0001250	Seizure	64801	ARV1	OMIM:617020
HP:0001250	Seizure	5859	QARS1	OMIM:615760
HP:0001250	Seizure	1352	COX10	OMIM:619046
HP:0001250	Seizure	1889	ECE1	OMIM:613870
HP:0001250	Seizure	2271	FH	OMIM:606812
HP:0001250	Seizure	777	CACNA1E	OMIM:618285
HP:0001250	Seizure	738	VPS51	OMIM:618606
HP:0001250	Seizure	7351	UCP2	ORPHA:276556
HP:0001250	Seizure	78987	CRELD1	OMIM:620771
HP:0001250	Seizure	6770	STAR	ORPHA:361
HP:0001250	Seizure	10587	TXNRD2	ORPHA:361
HP:0001250	Seizure	5443	POMC	OMIM:609734
HP:0001250	Seizure	5443	POMC	ORPHA:71526
HP:0001250	Seizure	6927	HNF1A	ORPHA:324575
HP:0001250	Seizure	3033	HADH	OMIM:231530
HP:0001250	Seizure	3033	HADH	ORPHA:71212
HP:0001250	Seizure	3033	HADH	OMIM:609975
HP:0001250	Seizure	5122	PCSK1	ORPHA:71528
HP:0001250	Seizure	6566	SLC16A1	OMIM:610021
HP:0001250	Seizure	29926	GMPPA	ORPHA:869
HP:0001250	Seizure	8086	AAAS	ORPHA:869
HP:0001250	Seizure	55186	SLC25A36	OMIM:620211
HP:0001250	Seizure	2542	SLC37A4	ORPHA:79259
HP:0001250	Seizure	2982	GUCY1A1	OMIM:615750
HP:0001250	Seizure	8496	PPFIBP1	OMIM:620024
HP:0001250	Seizure	83479	DDX59	OMIM:174300
HP:0001250	Seizure	51079	NDUFA13	OMIM:618249
HP:0001250	Seizure	22872	SEC31A	OMIM:618651
HP:0001250	Seizure	55361	PI4K2A	OMIM:620732
HP:0001250	Seizure	950	SCARB2	OMIM:254900
HP:0001250	Seizure	2746	GLUD1	ORPHA:35878
HP:0001250	Seizure	4613	MYCN	OMIM:620748
HP:0001250	Seizure	151	ADRA2B	ORPHA:86814
HP:0001250	Seizure	1501	CTNND2	ORPHA:86814
HP:0001250	Seizure	2512	FTL	OMIM:615604
HP:0001250	Seizure	55129	ANO10	ORPHA:284289
HP:0001250	Seizure	23162	MAPK8IP3	OMIM:618443
HP:0001250	Seizure	8565	YARS1	OMIM:619418
HP:0001250	Seizure	404672	GTF2H5	ORPHA:33364
HP:0001250	Seizure	7737	RNF113A	ORPHA:33364
HP:0001250	Seizure	136647	MPLKIP	ORPHA:33364
HP:0001250	Seizure	6897	TARS1	ORPHA:33364
HP:0001250	Seizure	2961	GTF2E2	ORPHA:33364
HP:0001250	Seizure	29071	C1GALT1C1	OMIM:301110
HP:0001250	Seizure	9230	RAB11B	OMIM:617807
HP:0001250	Seizure	9247	GCM2	OMIM:618883
HP:0001250	Seizure	9247	GCM2	ORPHA:2239
HP:0001250	Seizure	1594	CYP27B1	OMIM:264700
HP:0001250	Seizure	1594	CYP27B1	ORPHA:289157
HP:0001250	Seizure	120227	CYP2R1	ORPHA:289157
HP:0001250	Seizure	2625	GATA3	ORPHA:2237
HP:0001250	Seizure	7421	VDR	OMIM:277440
HP:0001250	Seizure	5741	PTH	OMIM:146200
HP:0001250	Seizure	8792	TNFRSF11A	OMIM:612301
HP:0001250	Seizure	8675	STX16	ORPHA:94089
HP:0001250	Seizure	5993	RFX5	OMIM:620818
HP:0001250	Seizure	23446	SLC44A1	OMIM:618868
HP:0001250	Seizure	5745	PTH1R	OMIM:600002
HP:0001250	Seizure	51111	KMT5B	OMIM:617788
HP:0001250	Seizure	5184	PEPD	OMIM:170100
HP:0001250	Seizure	90161	HS6ST2	OMIM:301025
HP:0001250	Seizure	7920	ABHD16A	OMIM:619735
HP:0001250	Seizure	55623	THUMPD1	OMIM:619989
HP:0001250	Seizure	91039	DPP9	OMIM:620331
HP:0001250	Seizure	64849	SLC13A3	OMIM:618384
HP:0001250	Seizure	284361	EMC10	OMIM:619264
HP:0001250	Seizure	11338	U2AF2	OMIM:620535
HP:0001250	Seizure	23135	KDM6B	OMIM:618505
HP:0001250	Seizure	4041	LRP5	OMIM:259770
HP:0001250	Seizure	267010	RNU12	OMIM:620208
HP:0001250	Seizure	1000	CDH2	OMIM:618929
HP:0001250	Seizure	56776	FMN2	OMIM:616193
HP:0001250	Seizure	9419	CRIPT	OMIM:615789
HP:0001250	Seizure	57020	VPS35L	OMIM:619135
HP:0001250	Seizure	7040	TGFB1	OMIM:618213
HP:0001250	Seizure	161725	OTUD7A	OMIM:620790
HP:0001250	Seizure	6584	SLC22A5	ORPHA:158
HP:0001250	Seizure	23031	MAST3	OMIM:620115
HP:0001250	Seizure	51083	GAL	OMIM:616461
HP:0001250	Seizure	57107	PDSS2	OMIM:614652
HP:0001250	Seizure	4076	CAPRIN1	OMIM:620782
HP:0001250	Seizure	57176	VARS2	OMIM:615917
HP:0001250	Seizure	5917	RARS1	ORPHA:438114
HP:0001250	Seizure	1353	COX11	OMIM:620275
HP:0001250	Seizure	4131	MAP1B	OMIM:618918
HP:0001250	Seizure	4131	MAP1B	ORPHA:98892
HP:0001250	Seizure	6844	VAMP2	OMIM:618760
HP:0001250	Seizure	340665	CYP26C1	ORPHA:398189
HP:0001250	Seizure	8789	FBP2	OMIM:619864
HP:0001250	Seizure	5442	POLRMT	OMIM:619743
HP:0001250	Seizure	5833	PCYT2	OMIM:618770
HP:0001250	Seizure	23265	EXOC7	OMIM:619072
HP:0001250	Seizure	4677	NARS1	OMIM:619091
HP:0001250	Seizure	4677	NARS1	OMIM:619092
HP:0001250	Seizure	23154	NCDN	OMIM:619373
HP:0001250	Seizure	1315	COPB1	OMIM:619255
HP:0001250	Seizure	6529	SLC6A1	ORPHA:1942
HP:0001250	Seizure	2801	GOLGA2	OMIM:620240
HP:0001250	Seizure	1468	SLC25A10	OMIM:618972
HP:0001250	Seizure	1188	CLCNKB	ORPHA:358
HP:0001250	Seizure	22796	COG2	ORPHA:435934
HP:0001250	Seizure	22796	COG2	OMIM:617395
HP:0001250	Seizure	55610	VPS50	OMIM:619685
HP:0001250	Seizure	9853	RUSC2	OMIM:617773
HP:0001250	Seizure	1457	CSNK2A1	OMIM:617062
HP:0001250	Seizure	144165	PRICKLE1	OMIM:612437
HP:0001250	Seizure	1327	COX4I1	OMIM:619060
HP:0001250	Seizure	4905	NSF	OMIM:619340
HP:0001250	Seizure	7840	ALMS1	ORPHA:64
HP:0001250	Seizure	1027	CDKN1B	ORPHA:652
HP:0001250	Seizure	1026	CDKN1A	ORPHA:652
HP:0001250	Seizure	1030	CDKN2B	ORPHA:652
HP:0001250	Seizure	1031	CDKN2C	ORPHA:652
HP:0001250	Seizure	25930	PTPN23	OMIM:618890
HP:0001250	Seizure	56246	MRAP	OMIM:607398
HP:0001250	Seizure	5457	POU4F1	ORPHA:314647
HP:0001250	Seizure	2019	EN1	OMIM:619218
HP:0001250	Seizure	9969	MED13	OMIM:618009
HP:0001250	Seizure	2192	FBLN1	ORPHA:404451
HP:0001250	Seizure	3098	HK1	OMIM:618547
HP:0001250	Seizure	253959	RALGAPA1	OMIM:618797
HP:0001250	Seizure	3798	KIF5A	OMIM:617235
HP:0001250	Seizure	1351	COX8A	OMIM:619059
HP:0001250	Seizure	55275	VPS53	OMIM:615851
HP:0001250	Seizure	2571	GAD1	OMIM:619124
HP:0001250	Seizure	84274	COQ5	OMIM:619028
HP:0001250	Seizure	10664	CTCF	OMIM:615502
HP:0001250	Seizure	1062	CENPE	OMIM:616051
HP:0001250	Seizure	10430	TMEM147	OMIM:620075
HP:0001250	Seizure	58472	SQOR	OMIM:619221
HP:0001250	Seizure	84816	RTN4IP1	OMIM:616732
HP:0001250	Seizure	5934	RBL2	OMIM:619690
HP:0001250	Seizure	56915	EXOSC5	OMIM:619576
HP:0001250	Seizure	25915	NDUFAF3	OMIM:618240
HP:0001250	Seizure	400569	MED11	OMIM:620327
HP:0001250	Seizure	4762	NEUROG1	OMIM:620469
HP:0001250	Seizure	10021	HCN4	OMIM:619521
HP:0001250	Seizure	125988	MICOS13	OMIM:618329
HP:0001250	Seizure	1107	CHD3	OMIM:618205
HP:0001250	Seizure	129285	PPP1R21	OMIM:619383
HP:0001250	Seizure	1460	CSNK2B	OMIM:618732
HP:0002418	Abnormal midbrain morphology	7355	SLC35A2	ORPHA:356961
HP:0002418	Abnormal midbrain morphology	2972	BRF1	ORPHA:444072
HP:0002418	Abnormal midbrain morphology	2581	GALC	ORPHA:206448
HP:0002418	Abnormal midbrain morphology	28514	DLL1	ORPHA:280195
HP:0002418	Abnormal midbrain morphology	2253	FGF8	ORPHA:280195
HP:0002418	Abnormal midbrain morphology	6496	SIX3	ORPHA:280195
HP:0002418	Abnormal midbrain morphology	7050	TGIF1	ORPHA:280195
HP:0002418	Abnormal midbrain morphology	4838	NODAL	ORPHA:280195
HP:0002418	Abnormal midbrain morphology	6469	SHH	ORPHA:280195
HP:0002418	Abnormal midbrain morphology	7546	ZIC2	ORPHA:280195
HP:0002418	Abnormal midbrain morphology	6491	STIL	ORPHA:280195
HP:0002418	Abnormal midbrain morphology	2619	GAS1	ORPHA:280195
HP:0002418	Abnormal midbrain morphology	84976	DISP1	ORPHA:280195
HP:0002418	Abnormal midbrain morphology	2736	GLI2	ORPHA:280195
HP:0002418	Abnormal midbrain morphology	8928	FOXH1	ORPHA:280195
HP:0002418	Abnormal midbrain morphology	6997	CRIPTO	ORPHA:280195
HP:0002418	Abnormal midbrain morphology	5727	PTCH1	ORPHA:280195
HP:0002418	Abnormal midbrain morphology	50937	CDON	ORPHA:280195
HP:0002418	Abnormal midbrain morphology	23322	RPGRIP1L	OMIM:619113
HP:0002418	Abnormal midbrain morphology	23322	RPGRIP1L	ORPHA:220497
HP:0002418	Abnormal midbrain morphology	23322	RPGRIP1L	OMIM:611560
HP:0002418	Abnormal midbrain morphology	9851	KIAA0753	OMIM:619476
HP:0002418	Abnormal midbrain morphology	9851	KIAA0753	OMIM:619479
HP:0002418	Abnormal midbrain morphology	9851	KIAA0753	ORPHA:2754
HP:0002418	Abnormal midbrain morphology	9851	KIAA0753	OMIM:617127
HP:0002418	Abnormal midbrain morphology	65250	CPLANE1	OMIM:277170
HP:0002418	Abnormal midbrain morphology	65250	CPLANE1	ORPHA:2754
HP:0002418	Abnormal midbrain morphology	65250	CPLANE1	OMIM:614615
HP:0002418	Abnormal midbrain morphology	57545	CC2D2A	OMIM:612285
HP:0002418	Abnormal midbrain morphology	57545	CC2D2A	OMIM:619111
HP:0002418	Abnormal midbrain morphology	57545	CC2D2A	ORPHA:2318
HP:0002418	Abnormal midbrain morphology	26005	C2CD3	ORPHA:434179
HP:0002418	Abnormal midbrain morphology	26005	C2CD3	OMIM:615948
HP:0002418	Abnormal midbrain morphology	95681	CEP41	OMIM:614464
HP:0002418	Abnormal midbrain morphology	95681	CEP41	ORPHA:220493
HP:0002418	Abnormal midbrain morphology	51524	TMEM138	OMIM:614465
HP:0002418	Abnormal midbrain morphology	51524	TMEM138	ORPHA:2318
HP:0002418	Abnormal midbrain morphology	80184	CEP290	OMIM:610188
HP:0002418	Abnormal midbrain morphology	80184	CEP290	OMIM:611134
HP:0002418	Abnormal midbrain morphology	80184	CEP290	ORPHA:2318
HP:0002418	Abnormal midbrain morphology	65062	TMEM237	OMIM:614424
HP:0002418	Abnormal midbrain morphology	65062	TMEM237	ORPHA:220497
HP:0002418	Abnormal midbrain morphology	65062	TMEM237	ORPHA:2318
HP:0002418	Abnormal midbrain morphology	51259	TMEM216	OMIM:608091
HP:0002418	Abnormal midbrain morphology	51259	TMEM216	ORPHA:2318
HP:0002418	Abnormal midbrain morphology	51259	TMEM216	ORPHA:2754
HP:0002418	Abnormal midbrain morphology	56623	INPP5E	OMIM:213300
HP:0002418	Abnormal midbrain morphology	56623	INPP5E	ORPHA:220493
HP:0002418	Abnormal midbrain morphology	4867	NPHP1	OMIM:609583
HP:0002418	Abnormal midbrain morphology	4867	NPHP1	ORPHA:220497
HP:0002418	Abnormal midbrain morphology	91147	TMEM67	OMIM:216360
HP:0002418	Abnormal midbrain morphology	91147	TMEM67	OMIM:610688
HP:0002418	Abnormal midbrain morphology	79848	CSPP1	ORPHA:397715
HP:0002418	Abnormal midbrain morphology	9786	KIAA0586	ORPHA:397715
HP:0002418	Abnormal midbrain morphology	9786	KIAA0586	OMIM:616546
HP:0002418	Abnormal midbrain morphology	200894	ARL13B	OMIM:612291
HP:0002418	Abnormal midbrain morphology	219854	TMEM218	OMIM:619562
HP:0002418	Abnormal midbrain morphology	80210	ARMC9	OMIM:617622
HP:0002418	Abnormal midbrain morphology	54806	AHI1	ORPHA:220493
HP:0002418	Abnormal midbrain morphology	54806	AHI1	OMIM:608629
HP:0002418	Abnormal midbrain morphology	153241	CEP120	ORPHA:220493
HP:0002418	Abnormal midbrain morphology	153241	CEP120	OMIM:616300
HP:0002418	Abnormal midbrain morphology	153241	CEP120	OMIM:617761
HP:0002418	Abnormal midbrain morphology	54903	MKS1	ORPHA:220493
HP:0002418	Abnormal midbrain morphology	54903	MKS1	OMIM:617121
HP:0002418	Abnormal midbrain morphology	54903	MKS1	OMIM:249000
HP:0002418	Abnormal midbrain morphology	403	ARL3	OMIM:618161
HP:0002418	Abnormal midbrain morphology	317662	FAM149B1	OMIM:618763
HP:0002418	Abnormal midbrain morphology	317662	FAM149B1	ORPHA:2754
HP:0002418	Abnormal midbrain morphology	374654	KIF7	OMIM:614120
HP:0002418	Abnormal midbrain morphology	374654	KIF7	ORPHA:2754
HP:0002418	Abnormal midbrain morphology	374654	KIF7	OMIM:607131
HP:0002418	Abnormal midbrain morphology	374654	KIF7	ORPHA:166024
HP:0002418	Abnormal midbrain morphology	9731	CEP104	OMIM:616781
HP:0002418	Abnormal midbrain morphology	8481	OFD1	OMIM:300804
HP:0002418	Abnormal midbrain morphology	8481	OFD1	ORPHA:2754
HP:0002418	Abnormal midbrain morphology	51684	SUFU	OMIM:617757
HP:0002418	Abnormal midbrain morphology	79583	TMEM231	ORPHA:2318
HP:0002418	Abnormal midbrain morphology	79583	TMEM231	ORPHA:2754
HP:0002418	Abnormal midbrain morphology	79583	TMEM231	OMIM:614970
HP:0002418	Abnormal midbrain morphology	23090	ZNF423	ORPHA:2318
HP:0002418	Abnormal midbrain morphology	10210	TOPORS	ORPHA:2754
HP:0002418	Abnormal midbrain morphology	26123	TCTN3	ORPHA:2754
HP:0002418	Abnormal midbrain morphology	26123	TCTN3	OMIM:614815
HP:0002418	Abnormal midbrain morphology	5147	PDE6D	ORPHA:2754
HP:0002418	Abnormal midbrain morphology	5147	PDE6D	OMIM:615665
HP:0002418	Abnormal midbrain morphology	23116	TOGARAM1	OMIM:619185
HP:0002418	Abnormal midbrain morphology	79600	TCTN1	OMIM:614173
HP:0002418	Abnormal midbrain morphology	27077	B9D1	OMIM:617120
HP:0002418	Abnormal midbrain morphology	80173	IFT74	OMIM:619582
HP:0002418	Abnormal midbrain morphology	84314	TMEM107	OMIM:617563
HP:0002418	Abnormal midbrain morphology	84314	TMEM107	OMIM:617562
HP:0002418	Abnormal midbrain morphology	80776	B9D2	OMIM:614175
HP:0002418	Abnormal midbrain morphology	10464	PIBF1	OMIM:617767
HP:0002418	Abnormal midbrain morphology	55770	EXOC2	OMIM:619306
HP:0002418	Abnormal midbrain morphology	120892	LRRK2	OMIM:607060
HP:0002418	Abnormal midbrain morphology	5071	PRKN	OMIM:600116
HP:0002418	Abnormal midbrain morphology	4287	ATXN3	ORPHA:276238
HP:0002418	Abnormal midbrain morphology	4287	ATXN3	OMIM:168600
HP:0002418	Abnormal midbrain morphology	4287	ATXN3	ORPHA:276244
HP:0002418	Abnormal midbrain morphology	4287	ATXN3	ORPHA:276241
HP:0002418	Abnormal midbrain morphology	2629	GBA1	OMIM:168600
HP:0002418	Abnormal midbrain morphology	126	ADH1C	OMIM:168600
HP:0002418	Abnormal midbrain morphology	4137	MAPT	OMIM:168600
HP:0002418	Abnormal midbrain morphology	4576	MT-TT	OMIM:168600
HP:0002418	Abnormal midbrain morphology	9627	SNCAIP	OMIM:168600
HP:0002418	Abnormal midbrain morphology	6908	TBP	OMIM:168600
HP:0002418	Abnormal midbrain morphology	6315	ATXN8OS	OMIM:168600
HP:0002418	Abnormal midbrain morphology	25793	FBXO7	ORPHA:171695
HP:0002418	Abnormal midbrain morphology	6622	SNCA	ORPHA:171695
HP:0002418	Abnormal midbrain morphology	2512	FTL	ORPHA:157846
HP:0002418	Abnormal midbrain morphology	11152	WDR45	ORPHA:329284
HP:0002418	Abnormal midbrain morphology	27072	VPS41	OMIM:619389
HP:0002418	Abnormal midbrain morphology	6905	TBCE	ORPHA:496756
HP:0002418	Abnormal midbrain morphology	23446	SLC44A1	OMIM:618868
HP:0002418	Abnormal midbrain morphology	54676	GTPBP2	OMIM:617988
HP:0002418	Abnormal midbrain morphology	540	ATP7B	OMIM:277900
HP:0002418	Abnormal midbrain morphology	2643	GCH1	ORPHA:98808
HP:0002418	Abnormal midbrain morphology	4929	NR4A2	ORPHA:98808
HP:0002418	Abnormal midbrain morphology	3615	IMPDH2	ORPHA:98808
HP:0002418	Abnormal midbrain morphology	80208	SPG11	ORPHA:2822
HP:0002418	Abnormal midbrain morphology	6311	ATXN2	ORPHA:98756
HP:0002419	Molar tooth sign on MRI	23322	RPGRIP1L	OMIM:619113
HP:0002419	Molar tooth sign on MRI	23322	RPGRIP1L	ORPHA:220497
HP:0002419	Molar tooth sign on MRI	23322	RPGRIP1L	OMIM:611560
HP:0002419	Molar tooth sign on MRI	9851	KIAA0753	OMIM:619476
HP:0002419	Molar tooth sign on MRI	9851	KIAA0753	OMIM:619479
HP:0002419	Molar tooth sign on MRI	9851	KIAA0753	ORPHA:2754
HP:0002419	Molar tooth sign on MRI	9851	KIAA0753	OMIM:617127
HP:0002419	Molar tooth sign on MRI	65250	CPLANE1	OMIM:277170
HP:0002419	Molar tooth sign on MRI	65250	CPLANE1	ORPHA:2754
HP:0002419	Molar tooth sign on MRI	65250	CPLANE1	OMIM:614615
HP:0002419	Molar tooth sign on MRI	57545	CC2D2A	OMIM:612285
HP:0002419	Molar tooth sign on MRI	57545	CC2D2A	OMIM:619111
HP:0002419	Molar tooth sign on MRI	57545	CC2D2A	ORPHA:2318
HP:0002419	Molar tooth sign on MRI	26005	C2CD3	ORPHA:434179
HP:0002419	Molar tooth sign on MRI	26005	C2CD3	OMIM:615948
HP:0002419	Molar tooth sign on MRI	95681	CEP41	OMIM:614464
HP:0002419	Molar tooth sign on MRI	95681	CEP41	ORPHA:220493
HP:0002419	Molar tooth sign on MRI	51524	TMEM138	OMIM:614465
HP:0002419	Molar tooth sign on MRI	51524	TMEM138	ORPHA:2318
HP:0002419	Molar tooth sign on MRI	80184	CEP290	OMIM:610188
HP:0002419	Molar tooth sign on MRI	80184	CEP290	OMIM:611134
HP:0002419	Molar tooth sign on MRI	80184	CEP290	ORPHA:2318
HP:0002419	Molar tooth sign on MRI	65062	TMEM237	OMIM:614424
HP:0002419	Molar tooth sign on MRI	65062	TMEM237	ORPHA:220497
HP:0002419	Molar tooth sign on MRI	65062	TMEM237	ORPHA:2318
HP:0002419	Molar tooth sign on MRI	51259	TMEM216	OMIM:608091
HP:0002419	Molar tooth sign on MRI	51259	TMEM216	ORPHA:2318
HP:0002419	Molar tooth sign on MRI	51259	TMEM216	ORPHA:2754
HP:0002419	Molar tooth sign on MRI	56623	INPP5E	OMIM:213300
HP:0002419	Molar tooth sign on MRI	56623	INPP5E	ORPHA:220493
HP:0002419	Molar tooth sign on MRI	4867	NPHP1	OMIM:609583
HP:0002419	Molar tooth sign on MRI	4867	NPHP1	ORPHA:220497
HP:0002419	Molar tooth sign on MRI	91147	TMEM67	OMIM:216360
HP:0002419	Molar tooth sign on MRI	91147	TMEM67	OMIM:610688
HP:0002419	Molar tooth sign on MRI	79848	CSPP1	ORPHA:397715
HP:0002419	Molar tooth sign on MRI	9786	KIAA0586	ORPHA:397715
HP:0002419	Molar tooth sign on MRI	9786	KIAA0586	OMIM:616546
HP:0002419	Molar tooth sign on MRI	200894	ARL13B	OMIM:612291
HP:0002419	Molar tooth sign on MRI	219854	TMEM218	OMIM:619562
HP:0002419	Molar tooth sign on MRI	80210	ARMC9	OMIM:617622
HP:0002419	Molar tooth sign on MRI	54806	AHI1	ORPHA:220493
HP:0002419	Molar tooth sign on MRI	54806	AHI1	OMIM:608629
HP:0002419	Molar tooth sign on MRI	153241	CEP120	ORPHA:220493
HP:0002419	Molar tooth sign on MRI	153241	CEP120	OMIM:616300
HP:0002419	Molar tooth sign on MRI	153241	CEP120	OMIM:617761
HP:0002419	Molar tooth sign on MRI	54903	MKS1	ORPHA:220493
HP:0002419	Molar tooth sign on MRI	54903	MKS1	OMIM:617121
HP:0002419	Molar tooth sign on MRI	54903	MKS1	OMIM:249000
HP:0002419	Molar tooth sign on MRI	403	ARL3	OMIM:618161
HP:0002419	Molar tooth sign on MRI	317662	FAM149B1	OMIM:618763
HP:0002419	Molar tooth sign on MRI	317662	FAM149B1	ORPHA:2754
HP:0002419	Molar tooth sign on MRI	374654	KIF7	OMIM:614120
HP:0002419	Molar tooth sign on MRI	374654	KIF7	ORPHA:2754
HP:0002419	Molar tooth sign on MRI	374654	KIF7	OMIM:607131
HP:0002419	Molar tooth sign on MRI	374654	KIF7	ORPHA:166024
HP:0002419	Molar tooth sign on MRI	9731	CEP104	OMIM:616781
HP:0002419	Molar tooth sign on MRI	8481	OFD1	OMIM:300804
HP:0002419	Molar tooth sign on MRI	8481	OFD1	ORPHA:2754
HP:0002419	Molar tooth sign on MRI	51684	SUFU	OMIM:617757
HP:0002419	Molar tooth sign on MRI	79583	TMEM231	ORPHA:2318
HP:0002419	Molar tooth sign on MRI	79583	TMEM231	ORPHA:2754
HP:0002419	Molar tooth sign on MRI	79583	TMEM231	OMIM:614970
HP:0002419	Molar tooth sign on MRI	23090	ZNF423	ORPHA:2318
HP:0002419	Molar tooth sign on MRI	10210	TOPORS	ORPHA:2754
HP:0002419	Molar tooth sign on MRI	26123	TCTN3	ORPHA:2754
HP:0002419	Molar tooth sign on MRI	26123	TCTN3	OMIM:614815
HP:0002419	Molar tooth sign on MRI	5147	PDE6D	ORPHA:2754
HP:0002419	Molar tooth sign on MRI	5147	PDE6D	OMIM:615665
HP:0002419	Molar tooth sign on MRI	23116	TOGARAM1	OMIM:619185
HP:0002419	Molar tooth sign on MRI	79600	TCTN1	OMIM:614173
HP:0002419	Molar tooth sign on MRI	27077	B9D1	OMIM:617120
HP:0002419	Molar tooth sign on MRI	80173	IFT74	OMIM:619582
HP:0002419	Molar tooth sign on MRI	84314	TMEM107	OMIM:617563
HP:0002419	Molar tooth sign on MRI	84314	TMEM107	OMIM:617562
HP:0002419	Molar tooth sign on MRI	80776	B9D2	OMIM:614175
HP:0002419	Molar tooth sign on MRI	10464	PIBF1	OMIM:617767
HP:0002419	Molar tooth sign on MRI	55770	EXOC2	OMIM:619306
HP:0010969	Abnormality of glycolipid metabolism	3073	HEXA	OMIM:272800
HP:0010969	Abnormality of glycolipid metabolism	2760	GM2A	OMIM:272750
HP:0010969	Abnormality of glycolipid metabolism	410	ARSA	ORPHA:309271
HP:0010969	Abnormality of glycolipid metabolism	410	ARSA	ORPHA:309263
HP:0010969	Abnormality of glycolipid metabolism	5660	PSAP	ORPHA:309271
HP:0010969	Abnormality of glycolipid metabolism	5660	PSAP	OMIM:611721
HP:0010969	Abnormality of glycolipid metabolism	5660	PSAP	ORPHA:309263
HP:0010969	Abnormality of glycolipid metabolism	3074	HEXB	OMIM:268800
HP:0010969	Abnormality of glycolipid metabolism	2717	GLA	ORPHA:324
HP:0010969	Abnormality of glycolipid metabolism	57192	MCOLN1	ORPHA:578
HP:0010969	Abnormality of glycolipid metabolism	57192	MCOLN1	OMIM:252650
HP:0010969	Abnormality of glycolipid metabolism	3795	KHK	ORPHA:2056
HP:0010969	Abnormality of glycolipid metabolism	84033	OBSCN	ORPHA:99845
HP:0010969	Abnormality of glycolipid metabolism	23175	LPIN1	ORPHA:99845
HP:0010969	Abnormality of glycolipid metabolism	4512	MT-CO1	ORPHA:99845
HP:0010969	Abnormality of glycolipid metabolism	4514	MT-CO3	ORPHA:99845
HP:0031799	Decreased circulating apolipoprotein A-I concentration	335	APOA1	OMIM:619836
HP:0031799	Decreased circulating apolipoprotein A-I concentration	335	APOA1	OMIM:620657
HP:0031799	Decreased circulating apolipoprotein A-I concentration	19	ABCA1	OMIM:205400
HP:0005655	Multiple digital exostoses	5781	PTPN11	OMIM:156250
HP:0002987	Elbow flexion contracture	2137	EXTL3	ORPHA:508533
HP:0002987	Elbow flexion contracture	11160	ERLIN2	ORPHA:280384
HP:0002987	Elbow flexion contracture	11160	ERLIN2	ORPHA:209951
HP:0002987	Elbow flexion contracture	4921	DDR2	OMIM:271665
HP:0002987	Elbow flexion contracture	4921	DDR2	OMIM:618175
HP:0002987	Elbow flexion contracture	57190	SELENON	ORPHA:97244
HP:0002987	Elbow flexion contracture	57190	SELENON	ORPHA:2020
HP:0002987	Elbow flexion contracture	58	ACTA1	ORPHA:97244
HP:0002987	Elbow flexion contracture	58	ACTA1	ORPHA:2020
HP:0002987	Elbow flexion contracture	83932	SPRTN	OMIM:616200
HP:0002987	Elbow flexion contracture	100151683	RNU4ATAC	OMIM:210710
HP:0002987	Elbow flexion contracture	100151683	RNU4ATAC	OMIM:226960
HP:0002987	Elbow flexion contracture	4010	LMX1B	ORPHA:2614
HP:0002987	Elbow flexion contracture	5352	PLOD2	OMIM:609220
HP:0002987	Elbow flexion contracture	1303	COL12A1	ORPHA:75840
HP:0002987	Elbow flexion contracture	1303	COL12A1	ORPHA:536516
HP:0002987	Elbow flexion contracture	1303	COL12A1	ORPHA:610
HP:0002987	Elbow flexion contracture	1291	COL6A1	ORPHA:75840
HP:0002987	Elbow flexion contracture	1291	COL6A1	ORPHA:610
HP:0002987	Elbow flexion contracture	1292	COL6A2	ORPHA:75840
HP:0002987	Elbow flexion contracture	1292	COL6A2	ORPHA:610
HP:0002987	Elbow flexion contracture	1293	COL6A3	ORPHA:75840
HP:0002987	Elbow flexion contracture	1293	COL6A3	ORPHA:610
HP:0002987	Elbow flexion contracture	5447	POR	ORPHA:95699
HP:0002987	Elbow flexion contracture	6840	SVIL	OMIM:619040
HP:0002987	Elbow flexion contracture	1836	SLC26A2	ORPHA:56304
HP:0002987	Elbow flexion contracture	1836	SLC26A2	ORPHA:93307
HP:0002987	Elbow flexion contracture	55315	SLC29A3	OMIM:602782
HP:0002987	Elbow flexion contracture	825	CAPN3	ORPHA:267
HP:0002987	Elbow flexion contracture	91179	SCARF2	OMIM:600920
HP:0002987	Elbow flexion contracture	3714	JAG2	OMIM:619566
HP:0002987	Elbow flexion contracture	6536	SLC6A9	OMIM:617301
HP:0002987	Elbow flexion contracture	2201	FBN2	OMIM:121050
HP:0002987	Elbow flexion contracture	5831	PYCR1	OMIM:614438
HP:0002987	Elbow flexion contracture	4000	LMNA	OMIM:248370
HP:0002987	Elbow flexion contracture	4000	LMNA	OMIM:616516
HP:0002987	Elbow flexion contracture	4000	LMNA	ORPHA:98855
HP:0002987	Elbow flexion contracture	4000	LMNA	ORPHA:98853
HP:0002987	Elbow flexion contracture	2067	ERCC1	OMIM:610758
HP:0002987	Elbow flexion contracture	2316	FLNA	OMIM:305620
HP:0002987	Elbow flexion contracture	2316	FLNA	ORPHA:1826
HP:0002987	Elbow flexion contracture	4621	MYH3	OMIM:193700
HP:0002987	Elbow flexion contracture	4621	MYH3	OMIM:178110
HP:0002987	Elbow flexion contracture	2010	EMD	OMIM:310300
HP:0002987	Elbow flexion contracture	2010	EMD	ORPHA:98863
HP:0002987	Elbow flexion contracture	5351	PLOD1	ORPHA:1900
HP:0002987	Elbow flexion contracture	7020	TFAP2A	OMIM:113620
HP:0002987	Elbow flexion contracture	6926	TBX3	OMIM:181450
HP:0002987	Elbow flexion contracture	4633	MYL2	ORPHA:2020
HP:0002987	Elbow flexion contracture	3679	ITGA7	ORPHA:2020
HP:0002987	Elbow flexion contracture	7169	TPM2	ORPHA:2020
HP:0002987	Elbow flexion contracture	7169	TPM2	OMIM:108120
HP:0002987	Elbow flexion contracture	9200	HACD1	ORPHA:2020
HP:0002987	Elbow flexion contracture	7170	TPM3	ORPHA:2020
HP:0002987	Elbow flexion contracture	51776	MAP3K20	ORPHA:2020
HP:0002987	Elbow flexion contracture	3977	LIFR	OMIM:601559
HP:0002987	Elbow flexion contracture	3977	LIFR	ORPHA:3206
HP:0002987	Elbow flexion contracture	127833	SYT2	OMIM:619461
HP:0002987	Elbow flexion contracture	54681	P4HTM	OMIM:618493
HP:0002987	Elbow flexion contracture	5277	PIGA	OMIM:300868
HP:0002987	Elbow flexion contracture	8985	PLOD3	OMIM:612394
HP:0002987	Elbow flexion contracture	545	ATR	OMIM:210600
HP:0002987	Elbow flexion contracture	6023	RMRP	OMIM:607095
HP:0002987	Elbow flexion contracture	3908	LAMA2	OMIM:618138
HP:0002987	Elbow flexion contracture	2783	GNB2	OMIM:619503
HP:0002987	Elbow flexion contracture	4632	MYL1	OMIM:618414
HP:0002987	Elbow flexion contracture	9244	CRLF1	OMIM:272430
HP:0002987	Elbow flexion contracture	2074	ERCC6	OMIM:214150
HP:0002987	Elbow flexion contracture	9653	HS2ST1	OMIM:619194
HP:0002987	Elbow flexion contracture	9051	PSTPIP1	OMIM:604416
HP:0002987	Elbow flexion contracture	59341	TRPV4	OMIM:600175
HP:0002987	Elbow flexion contracture	59341	TRPV4	OMIM:184252
HP:0002987	Elbow flexion contracture	84065	TMEM222	OMIM:619470
HP:0002987	Elbow flexion contracture	3835	KIF22	ORPHA:93360
HP:0002987	Elbow flexion contracture	9791	PTDSS1	OMIM:151050
HP:0002987	Elbow flexion contracture	6628	SNRPB	OMIM:117650
HP:0002987	Elbow flexion contracture	29895	MYL11	OMIM:619110
HP:0002987	Elbow flexion contracture	340419	RSPO2	OMIM:618022
HP:0002987	Elbow flexion contracture	1861	TOR1A	OMIM:618947
HP:0002987	Elbow flexion contracture	259232	NALCN	ORPHA:371364
HP:0002987	Elbow flexion contracture	259232	NALCN	OMIM:616266
HP:0002987	Elbow flexion contracture	285175	UNC80	ORPHA:371364
HP:0002987	Elbow flexion contracture	84992	PIGY	OMIM:616809
HP:0002987	Elbow flexion contracture	2200	FBN1	OMIM:608328
HP:0002987	Elbow flexion contracture	2200	FBN1	OMIM:184900
HP:0002987	Elbow flexion contracture	2222	FDFT1	OMIM:618156
HP:0002987	Elbow flexion contracture	163175	LGI4	OMIM:617468
HP:0002987	Elbow flexion contracture	60681	FKBP10	OMIM:259450
HP:0002987	Elbow flexion contracture	2799	GNS	OMIM:252940
HP:0002987	Elbow flexion contracture	9215	LARGE1	OMIM:608840
HP:0002987	Elbow flexion contracture	1376	CPT2	OMIM:608836
HP:0002987	Elbow flexion contracture	342035	GLDN	OMIM:617194
HP:0002987	Elbow flexion contracture	339855	KY	OMIM:617114
HP:0002987	Elbow flexion contracture	5286	PIK3C2A	OMIM:618440
HP:0002987	Elbow flexion contracture	7317	UBA1	ORPHA:1145
HP:0002987	Elbow flexion contracture	25836	NIPBL	OMIM:122470
HP:0002987	Elbow flexion contracture	23219	FBXO28	OMIM:619777
HP:0002987	Elbow flexion contracture	55681	SCYL2	ORPHA:1143
HP:0002987	Elbow flexion contracture	84570	COL25A1	ORPHA:1143
HP:0002987	Elbow flexion contracture	57222	ERGIC1	ORPHA:1143
HP:0002987	Elbow flexion contracture	6329	SCN4A	OMIM:620369
HP:0002987	Elbow flexion contracture	7476	WNT7A	OMIM:276820
HP:0002987	Elbow flexion contracture	6885	MAP3K7	ORPHA:1826
HP:0002987	Elbow flexion contracture	64116	SLC39A8	ORPHA:468699
HP:0002987	Elbow flexion contracture	5832	ALDH18A1	ORPHA:447757
HP:0002987	Elbow flexion contracture	2273	FHL1	ORPHA:98863
HP:0002987	Elbow flexion contracture	6913	TBX15	ORPHA:93333
HP:0002987	Elbow flexion contracture	157570	ESCO2	OMIM:268300
HP:0002987	Elbow flexion contracture	9469	CHST3	OMIM:245600
HP:0002987	Elbow flexion contracture	26229	B3GAT3	OMIM:245600
HP:0002987	Elbow flexion contracture	91137	SLC25A46	OMIM:619303
HP:0002987	Elbow flexion contracture	9427	ECEL1	OMIM:615065
HP:0002987	Elbow flexion contracture	2706	GJB2	OMIM:148210
HP:0002987	Elbow flexion contracture	5696	PSMB8	OMIM:256040
HP:0002987	Elbow flexion contracture	1756	DMD	ORPHA:206546
HP:0002987	Elbow flexion contracture	79188	TMEM43	ORPHA:98853
HP:0002987	Elbow flexion contracture	23345	SYNE1	ORPHA:98853
HP:0002987	Elbow flexion contracture	23224	SYNE2	ORPHA:98853
HP:0002987	Elbow flexion contracture	203859	ANO5	ORPHA:206549
HP:0005652	Cortical sclerosis	10312	TCIRG1	ORPHA:210110
HP:0005652	Cortical sclerosis	1186	CLCN7	ORPHA:210110
HP:0005652	Cortical sclerosis	9842	PLEKHM1	ORPHA:210110
HP:0005652	Cortical sclerosis	6522	SLC4A2	OMIM:620366
HP:0005652	Cortical sclerosis	50964	SOST	OMIM:122860
HP:0100490	Camptodactyly of finger	64093	SMOC1	OMIM:206920
HP:0100490	Camptodactyly of finger	64093	SMOC1	ORPHA:1106
HP:0100490	Camptodactyly of finger	91179	SCARF2	OMIM:600920
HP:0100490	Camptodactyly of finger	55628	ZNF407	OMIM:619557
HP:0100490	Camptodactyly of finger	23219	FBXO28	OMIM:619777
HP:0100490	Camptodactyly of finger	84265	POLR3GL	OMIM:619234
HP:0100490	Camptodactyly of finger	10297	APC2	ORPHA:821
HP:0100490	Camptodactyly of finger	80204	FBXO11	OMIM:618089
HP:0100490	Camptodactyly of finger	825	CAPN3	ORPHA:267
HP:0100490	Camptodactyly of finger	113179	ADAT3	ORPHA:363528
HP:0100490	Camptodactyly of finger	51305	KCNK9	ORPHA:166108
HP:0100490	Camptodactyly of finger	22880	MORC2	ORPHA:466768
HP:0100490	Camptodactyly of finger	170689	ADAMTS15	OMIM:620545
HP:0100490	Camptodactyly of finger	6329	SCN4A	OMIM:620351
HP:0100490	Camptodactyly of finger	10765	KDM5B	OMIM:618109
HP:0100490	Camptodactyly of finger	9487	PIGL	OMIM:280000
HP:0100490	Camptodactyly of finger	10093	ARPC4	OMIM:620141
HP:0100490	Camptodactyly of finger	11011	TLK2	OMIM:618050
HP:0100490	Camptodactyly of finger	6909	TBX2	OMIM:618223
HP:0100490	Camptodactyly of finger	90459	ERI1	OMIM:620662
HP:0100490	Camptodactyly of finger	80816	ASXL3	OMIM:615485
HP:0100490	Camptodactyly of finger	81857	MED25	ORPHA:464738
HP:0100490	Camptodactyly of finger	8243	SMC1A	OMIM:301044
HP:0100490	Camptodactyly of finger	1277	COL1A1	OMIM:130060
HP:0100490	Camptodactyly of finger	23327	NEDD4L	OMIM:617201
HP:0100490	Camptodactyly of finger	8985	PLOD3	OMIM:612394
HP:0100490	Camptodactyly of finger	6134	RPL10	OMIM:300998
HP:0100490	Camptodactyly of finger	2218	FKTN	ORPHA:272
HP:0100490	Camptodactyly of finger	4621	MYH3	ORPHA:2053
HP:0100490	Camptodactyly of finger	4621	MYH3	ORPHA:1146
HP:0100490	Camptodactyly of finger	4621	MYH3	ORPHA:2990
HP:0100490	Camptodactyly of finger	259232	NALCN	ORPHA:2053
HP:0100490	Camptodactyly of finger	259232	NALCN	ORPHA:1146
HP:0100490	Camptodactyly of finger	8294	H4C9	OMIM:619951
HP:0100490	Camptodactyly of finger	3094	HINT1	ORPHA:324442
HP:0100490	Camptodactyly of finger	8838	CCN6	OMIM:208230
HP:0100490	Camptodactyly of finger	1947	EFNB1	ORPHA:1520
HP:0100490	Camptodactyly of finger	7355	SLC35A2	ORPHA:356961
HP:0100490	Camptodactyly of finger	118429	ANTXR2	ORPHA:2176
HP:0100490	Camptodactyly of finger	5077	PAX3	ORPHA:1529
HP:0100490	Camptodactyly of finger	5077	PAX3	ORPHA:896
HP:0100490	Camptodactyly of finger	5077	PAX3	OMIM:148820
HP:0100490	Camptodactyly of finger	2316	FLNA	OMIM:300244
HP:0100490	Camptodactyly of finger	2316	FLNA	ORPHA:90652
HP:0100490	Camptodactyly of finger	2316	FLNA	ORPHA:1826
HP:0100490	Camptodactyly of finger	2316	FLNA	OMIM:305620
HP:0100490	Camptodactyly of finger	9241	NOG	ORPHA:3250
HP:0100490	Camptodactyly of finger	8200	GDF5	ORPHA:3250
HP:0100490	Camptodactyly of finger	54968	TMEM70	ORPHA:1194
HP:0100490	Camptodactyly of finger	613	BCR	ORPHA:261330
HP:0100490	Camptodactyly of finger	1399	CRKL	ORPHA:261330
HP:0100490	Camptodactyly of finger	5594	MAPK1	ORPHA:261330
HP:0100490	Camptodactyly of finger	84466	MEGF10	OMIM:614399
HP:0100490	Camptodactyly of finger	72	ACTG2	ORPHA:2604
HP:0100490	Camptodactyly of finger	2201	FBN2	OMIM:121050
HP:0100490	Camptodactyly of finger	2201	FBN2	ORPHA:115
HP:0100490	Camptodactyly of finger	10216	PRG4	ORPHA:2848
HP:0100490	Camptodactyly of finger	3508	IGHMBP2	OMIM:604320
HP:0100490	Camptodactyly of finger	6926	TBX3	ORPHA:3138
HP:0100490	Camptodactyly of finger	51360	MBTPS2	ORPHA:2273
HP:0100490	Camptodactyly of finger	10381	TUBB3	OMIM:600638
HP:0100490	Camptodactyly of finger	9469	CHST3	OMIM:143095
HP:0100490	Camptodactyly of finger	3423	IDS	ORPHA:217085
HP:0100490	Camptodactyly of finger	3423	IDS	ORPHA:217093
HP:0100490	Camptodactyly of finger	64359	NXN	ORPHA:1507
HP:0100490	Camptodactyly of finger	4920	ROR2	ORPHA:1507
HP:0100490	Camptodactyly of finger	2697	GJA1	ORPHA:2710
HP:0100490	Camptodactyly of finger	2697	GJA1	ORPHA:93404
HP:0100490	Camptodactyly of finger	64127	NOD2	OMIM:186580
HP:0100490	Camptodactyly of finger	64127	NOD2	ORPHA:90340
HP:0100490	Camptodactyly of finger	6999	TDO2	OMIM:600627
HP:0100490	Camptodactyly of finger	1301	COL11A1	ORPHA:2021
HP:0100490	Camptodactyly of finger	1302	COL11A2	ORPHA:2021
HP:0100490	Camptodactyly of finger	4929	NR4A2	ORPHA:1617
HP:0100490	Camptodactyly of finger	10716	TBR1	ORPHA:1617
HP:0100490	Camptodactyly of finger	3425	IDUA	OMIM:607015
HP:0100490	Camptodactyly of finger	3425	IDUA	ORPHA:93473
HP:0100490	Camptodactyly of finger	4593	MUSK	OMIM:208150
HP:0100490	Camptodactyly of finger	4593	MUSK	ORPHA:994
HP:0100490	Camptodactyly of finger	63895	PIEZO2	OMIM:114300
HP:0100490	Camptodactyly of finger	63895	PIEZO2	ORPHA:376
HP:0100490	Camptodactyly of finger	63895	PIEZO2	ORPHA:2461
HP:0100490	Camptodactyly of finger	56006	SMG9	OMIM:616920
HP:0100490	Camptodactyly of finger	1857	DVL3	ORPHA:3107
HP:0100490	Camptodactyly of finger	7474	WNT5A	ORPHA:3107
HP:0100490	Camptodactyly of finger	1855	DVL1	ORPHA:3107
HP:0100490	Camptodactyly of finger	2535	FZD2	ORPHA:3107
HP:0100490	Camptodactyly of finger	9508	ADAMTS3	ORPHA:2136
HP:0100490	Camptodactyly of finger	147372	CCBE1	ORPHA:2136
HP:0100490	Camptodactyly of finger	79633	FAT4	ORPHA:2136
HP:0100490	Camptodactyly of finger	5189	PEX1	ORPHA:3220
HP:0100490	Camptodactyly of finger	5190	PEX6	ORPHA:3220
HP:0100490	Camptodactyly of finger	5590	PRKCZ	ORPHA:1606
HP:0100490	Camptodactyly of finger	2563	GABRD	ORPHA:1606
HP:0100490	Camptodactyly of finger	23013	SPEN	ORPHA:1606
HP:0100490	Camptodactyly of finger	8510	MMP23B	ORPHA:1606
HP:0100490	Camptodactyly of finger	7798	LUZP1	ORPHA:1606
HP:0100490	Camptodactyly of finger	6497	SKI	ORPHA:1606
HP:0100490	Camptodactyly of finger	6497	SKI	ORPHA:2462
HP:0100490	Camptodactyly of finger	10630	PDPN	ORPHA:1606
HP:0100490	Camptodactyly of finger	3339	HSPG2	ORPHA:1606
HP:0100490	Camptodactyly of finger	10277	UBE4B	ORPHA:1606
HP:0100490	Camptodactyly of finger	8514	KCNAB2	ORPHA:1606
HP:0100490	Camptodactyly of finger	473	RERE	ORPHA:1606
HP:0100490	Camptodactyly of finger	63976	PRDM16	ORPHA:1606
HP:0100490	Camptodactyly of finger	54897	CASZ1	ORPHA:1606
HP:0100490	Camptodactyly of finger	9719	ADAMTSL2	OMIM:231050
HP:0100490	Camptodactyly of finger	4952	OCRL	OMIM:309000
HP:0100490	Camptodactyly of finger	8517	IKBKG	ORPHA:464
HP:0100490	Camptodactyly of finger	10436	EMG1	ORPHA:1270
HP:0100490	Camptodactyly of finger	57492	ARID1B	ORPHA:251056
HP:0100490	Camptodactyly of finger	11128	POLR3A	ORPHA:3455
HP:0100490	Camptodactyly of finger	2239	GPC4	ORPHA:373
HP:0100490	Camptodactyly of finger	2719	GPC3	ORPHA:373
HP:0100490	Camptodactyly of finger	55612	FERMT1	ORPHA:2908
HP:0100490	Camptodactyly of finger	3977	LIFR	ORPHA:3206
HP:0100490	Camptodactyly of finger	23483	TGDS	ORPHA:1388
HP:0100490	Camptodactyly of finger	2260	FGFR1	OMIM:166250
HP:0100490	Camptodactyly of finger	7140	TNNT3	ORPHA:1146
HP:0100490	Camptodactyly of finger	7169	TPM2	ORPHA:1146
HP:0100490	Camptodactyly of finger	7136	TNNI2	ORPHA:1146
HP:0100490	Camptodactyly of finger	7136	TNNI2	OMIM:601680
HP:0100490	Camptodactyly of finger	4604	MYBPC1	ORPHA:1146
HP:0100490	Camptodactyly of finger	6885	MAP3K7	ORPHA:1826
HP:0100490	Camptodactyly of finger	117581	TWIST2	ORPHA:920
HP:0100490	Camptodactyly of finger	64324	NSD1	ORPHA:3447
HP:0100490	Camptodactyly of finger	23512	SUZ12	ORPHA:3447
HP:0100490	Camptodactyly of finger	2146	EZH2	ORPHA:3447
HP:0100490	Camptodactyly of finger	1723	DHODH	ORPHA:246
HP:0100490	Camptodactyly of finger	257	ALX3	ORPHA:391474
HP:0100490	Camptodactyly of finger	3239	HOXD13	OMIM:186300
HP:0100490	Camptodactyly of finger	3239	HOXD13	ORPHA:93406
HP:0100490	Camptodactyly of finger	54903	MKS1	OMIM:249000
HP:0100490	Camptodactyly of finger	91252	SLC39A13	OMIM:612350
HP:0100490	Camptodactyly of finger	22930	RAB3GAP1	OMIM:619420
HP:0100490	Camptodactyly of finger	7046	TGFBR1	ORPHA:60030
HP:0100490	Camptodactyly of finger	10526	IPO8	ORPHA:60030
HP:0100490	Camptodactyly of finger	7048	TGFBR2	ORPHA:60030
HP:0100490	Camptodactyly of finger	7042	TGFB2	ORPHA:60030
HP:0100490	Camptodactyly of finger	7043	TGFB3	ORPHA:60030
HP:0100490	Camptodactyly of finger	4087	SMAD2	ORPHA:60030
HP:0100490	Camptodactyly of finger	4088	SMAD3	ORPHA:60030
HP:0100490	Camptodactyly of finger	4088	SMAD3	ORPHA:284984
HP:0100490	Camptodactyly of finger	3897	L1CAM	ORPHA:2466
HP:0100490	Camptodactyly of finger	2245	FGD1	ORPHA:915
HP:0100490	Camptodactyly of finger	2200	FBN1	ORPHA:2462
HP:0100490	Camptodactyly of finger	7227	TRPS1	ORPHA:77258
HP:0100490	Camptodactyly of finger	27238	GPKOW	ORPHA:2570
HP:0100490	Camptodactyly of finger	10466	COG5	ORPHA:263487
HP:0100490	Camptodactyly of finger	55315	SLC29A3	OMIM:602782
HP:0100490	Camptodactyly of finger	23102	TBC1D2B	OMIM:619323
HP:0100490	Camptodactyly of finger	2068	ERCC2	OMIM:610756
HP:0100490	Camptodactyly of finger	2068	ERCC2	ORPHA:1466
HP:0100490	Camptodactyly of finger	51114	ZDHHC9	ORPHA:776
HP:0100490	Camptodactyly of finger	65109	UPF3B	ORPHA:776
HP:0100490	Camptodactyly of finger	9968	MED12	ORPHA:776
HP:0100490	Camptodactyly of finger	2067	ERCC1	OMIM:610758
HP:0100490	Camptodactyly of finger	2067	ERCC1	ORPHA:1466
HP:0100490	Camptodactyly of finger	114548	NLRP3	ORPHA:575
HP:0100490	Camptodactyly of finger	2074	ERCC6	ORPHA:1466
HP:0100490	Camptodactyly of finger	2073	ERCC5	ORPHA:1466
HP:0100490	Camptodactyly of finger	134701	RIPPLY2	ORPHA:2311
HP:0100490	Camptodactyly of finger	10683	DLL3	ORPHA:2311
HP:0100490	Camptodactyly of finger	3955	LFNG	ORPHA:2311
HP:0100490	Camptodactyly of finger	84667	HES7	ORPHA:2311
HP:0100490	Camptodactyly of finger	145873	MESP2	ORPHA:2311
HP:0100490	Camptodactyly of finger	81620	CDT1	ORPHA:2554
HP:0100490	Camptodactyly of finger	5000	ORC4	ORPHA:2554
HP:0100490	Camptodactyly of finger	23594	ORC6	ORPHA:2554
HP:0100490	Camptodactyly of finger	8318	CDC45	ORPHA:2554
HP:0100490	Camptodactyly of finger	990	CDC6	ORPHA:2554
HP:0100490	Camptodactyly of finger	4998	ORC1	ORPHA:2554
HP:0100490	Camptodactyly of finger	51053	GMNN	ORPHA:2554
HP:0100490	Camptodactyly of finger	8260	NAA10	ORPHA:568
HP:0100490	Camptodactyly of finger	54880	BCOR	ORPHA:568
HP:0100490	Camptodactyly of finger	64327	LMBR1	ORPHA:93405
HP:0100490	Camptodactyly of finger	6469	SHH	ORPHA:93405
HP:0100490	Camptodactyly of finger	51715	RAB23	ORPHA:65759
HP:0100490	Camptodactyly of finger	1954	MEGF8	ORPHA:65759
HP:0100490	Camptodactyly of finger	55605	KIF21A	ORPHA:994
HP:0100490	Camptodactyly of finger	4927	NUP88	ORPHA:994
HP:0100490	Camptodactyly of finger	7846	TUBA1A	ORPHA:994
HP:0100490	Camptodactyly of finger	4654	MYOD1	ORPHA:994
HP:0100490	Camptodactyly of finger	54551	MAGEL2	ORPHA:994
HP:0100490	Camptodactyly of finger	5913	RAPSN	ORPHA:994
HP:0100490	Camptodactyly of finger	6572	SLC18A3	ORPHA:994
HP:0100490	Camptodactyly of finger	285489	DOK7	ORPHA:994
HP:0100490	Camptodactyly of finger	3914	LAMB3	OMIM:226650
HP:0100490	Camptodactyly of finger	8092	ALX1	ORPHA:306542
HP:0100490	Camptodactyly of finger	29895	MYL11	OMIM:619110
HP:0100490	Camptodactyly of finger	64840	PORCN	ORPHA:2092
HP:0100490	Camptodactyly of finger	23443	SLC35A3	OMIM:615553
HP:0100490	Camptodactyly of finger	285590	SH3PXD2B	ORPHA:137834
HP:0100490	Camptodactyly of finger	1836	SLC26A2	ORPHA:628
HP:0100490	Camptodactyly of finger	25914	RTTN	ORPHA:468631
HP:0100490	Camptodactyly of finger	9935	MAFB	ORPHA:2774
HP:0100490	Camptodactyly of finger	28952	CCDC22	OMIM:300963
HP:0100490	Camptodactyly of finger	8450	CUL4B	ORPHA:85293
HP:0100490	Camptodactyly of finger	1303	COL12A1	ORPHA:610
HP:0100490	Camptodactyly of finger	1291	COL6A1	ORPHA:610
HP:0100490	Camptodactyly of finger	1291	COL6A1	OMIM:158810
HP:0100490	Camptodactyly of finger	1292	COL6A2	ORPHA:610
HP:0100490	Camptodactyly of finger	1293	COL6A3	ORPHA:610
HP:0100490	Camptodactyly of finger	26092	TOR1AIP1	OMIM:617072
HP:0100490	Camptodactyly of finger	8242	KDM5C	ORPHA:85279
HP:0100490	Camptodactyly of finger	59341	TRPV4	ORPHA:2635
HP:0100490	Camptodactyly of finger	2261	FGFR3	ORPHA:85164
HP:0100490	Camptodactyly of finger	4000	LMNA	ORPHA:1662
HP:0100490	Camptodactyly of finger	10269	ZMPSTE24	ORPHA:1662
HP:0100490	Camptodactyly of finger	1146	CHRNG	ORPHA:2990
HP:0100490	Camptodactyly of finger	23522	KAT6B	ORPHA:3047
HP:0100490	Camptodactyly of finger	26123	TCTN3	ORPHA:2753
HP:0100490	Camptodactyly of finger	64131	XYLT1	ORPHA:1425
HP:0100490	Camptodactyly of finger	124583	CANT1	ORPHA:1425
HP:0100490	Camptodactyly of finger	55790	CSGALNACT1	ORPHA:1425
HP:0100490	Camptodactyly of finger	23529	CLCF1	ORPHA:1545
HP:0100490	Camptodactyly of finger	9244	CRLF1	ORPHA:1545
HP:0100490	Camptodactyly of finger	79693	YRDC	ORPHA:2065
HP:0100490	Camptodactyly of finger	51002	TPRKB	ORPHA:2065
HP:0100490	Camptodactyly of finger	84942	WDR73	ORPHA:2065
HP:0100490	Camptodactyly of finger	55644	OSGEP	ORPHA:2065
HP:0100490	Camptodactyly of finger	57122	NUP107	ORPHA:2065
HP:0100490	Camptodactyly of finger	10785	WDR4	ORPHA:2065
HP:0100490	Camptodactyly of finger	55746	NUP133	ORPHA:2065
HP:0100490	Camptodactyly of finger	84520	GON7	ORPHA:2065
HP:0100490	Camptodactyly of finger	112858	TP53RK	ORPHA:2065
HP:0100490	Camptodactyly of finger	8270	LAGE3	ORPHA:2065
HP:0100490	Camptodactyly of finger	5696	PSMB8	OMIM:256040
HP:0100490	Camptodactyly of finger	56916	SMARCAD1	ORPHA:1658
HP:0005650	2-5 finger cutaneous syndactyly	50814	NSDHL	OMIM:308050
HP:0005650	2-5 finger cutaneous syndactyly	1147	CHUK	OMIM:619339
HP:0005650	2-5 finger cutaneous syndactyly	7291	TWIST1	OMIM:617746
HP:0005650	2-5 finger cutaneous syndactyly	25914	RTTN	ORPHA:468631
HP:0005667	Os odontoideum	64802	NMNAT1	OMIM:619260
HP:0005667	Os odontoideum	5832	ALDH18A1	OMIM:616603
HP:0100266	Synostosis of carpals/tarsals	5566	PRKACA	ORPHA:289
HP:0100266	Synostosis of carpals/tarsals	5567	PRKACB	ORPHA:289
HP:0100266	Synostosis of carpals/tarsals	2735	GLI1	ORPHA:289
HP:0100266	Synostosis of carpals/tarsals	2121	EVC	ORPHA:289
HP:0100266	Synostosis of carpals/tarsals	2121	EVC	OMIM:225500
HP:0100266	Synostosis of carpals/tarsals	51626	DYNC2LI1	ORPHA:289
HP:0100266	Synostosis of carpals/tarsals	132884	EVC2	ORPHA:289
HP:0100266	Synostosis of carpals/tarsals	132884	EVC2	OMIM:225500
HP:0100266	Synostosis of carpals/tarsals	54928	BPNT2	OMIM:614078
HP:0100266	Synostosis of carpals/tarsals	64359	NXN	ORPHA:1507
HP:0100266	Synostosis of carpals/tarsals	4920	ROR2	ORPHA:1507
HP:0100266	Synostosis of carpals/tarsals	6469	SHH	ORPHA:988
HP:0100266	Synostosis of carpals/tarsals	157570	ESCO2	ORPHA:3103
HP:0100266	Synostosis of carpals/tarsals	3209	HOXA13	ORPHA:2438
HP:0100266	Synostosis of carpals/tarsals	727857	BHLHA9	ORPHA:157801
HP:0100266	Synostosis of carpals/tarsals	9555	MACROH2A1	ORPHA:1275
HP:0100266	Synostosis of carpals/tarsals	5307	PITX1	ORPHA:1275
HP:0100266	Synostosis of carpals/tarsals	4038	LRP4	ORPHA:3258
HP:0100266	Synostosis of carpals/tarsals	324	APC	ORPHA:3258
HP:0100266	Synostosis of carpals/tarsals	2263	FGFR2	OMIM:123150
HP:0100266	Synostosis of carpals/tarsals	2260	FGFR1	OMIM:123150
HP:0100266	Synostosis of carpals/tarsals	4621	MYH3	OMIM:178110
HP:0100266	Synostosis of carpals/tarsals	4621	MYH3	ORPHA:1147
HP:0100266	Synostosis of carpals/tarsals	4621	MYH3	OMIM:618469
HP:0100266	Synostosis of carpals/tarsals	5447	POR	OMIM:201750
HP:0100266	Synostosis of carpals/tarsals	5447	POR	ORPHA:95699
HP:0100266	Synostosis of carpals/tarsals	9241	NOG	OMIM:186570
HP:0100266	Synostosis of carpals/tarsals	9241	NOG	OMIM:611377
HP:0100266	Synostosis of carpals/tarsals	9241	NOG	OMIM:186500
HP:0100266	Synostosis of carpals/tarsals	9241	NOG	ORPHA:3250
HP:0100266	Synostosis of carpals/tarsals	9241	NOG	ORPHA:1412
HP:0100266	Synostosis of carpals/tarsals	9241	NOG	OMIM:185800
HP:0100266	Synostosis of carpals/tarsals	392255	GDF6	OMIM:617898
HP:0100266	Synostosis of carpals/tarsals	7140	TNNT3	ORPHA:1147
HP:0100266	Synostosis of carpals/tarsals	7169	TPM2	ORPHA:1147
HP:0100266	Synostosis of carpals/tarsals	259232	NALCN	ORPHA:1147
HP:0100266	Synostosis of carpals/tarsals	7136	TNNI2	ORPHA:1147
HP:0100266	Synostosis of carpals/tarsals	64327	LMBR1	ORPHA:2378
HP:0100266	Synostosis of carpals/tarsals	8200	GDF5	ORPHA:2639
HP:0100266	Synostosis of carpals/tarsals	8200	GDF5	ORPHA:2098
HP:0100266	Synostosis of carpals/tarsals	8200	GDF5	ORPHA:968
HP:0100266	Synostosis of carpals/tarsals	8200	GDF5	ORPHA:3250
HP:0100266	Synostosis of carpals/tarsals	8200	GDF5	OMIM:610017
HP:0100266	Synostosis of carpals/tarsals	658	BMPR1B	ORPHA:2639
HP:0100266	Synostosis of carpals/tarsals	658	BMPR1B	ORPHA:2098
HP:0100266	Synostosis of carpals/tarsals	658	BMPR1B	OMIM:609441
HP:0100266	Synostosis of carpals/tarsals	9496	TBX4	OMIM:147891
HP:0100266	Synostosis of carpals/tarsals	8195	MKKS	ORPHA:2473
HP:0100266	Synostosis of carpals/tarsals	2261	FGFR3	ORPHA:53271
HP:0100266	Synostosis of carpals/tarsals	2317	FLNB	OMIM:272460
HP:0100266	Synostosis of carpals/tarsals	8481	OFD1	ORPHA:2750
HP:0100266	Synostosis of carpals/tarsals	64093	SMOC1	ORPHA:1106
HP:0100266	Synostosis of carpals/tarsals	538	ATP7A	ORPHA:565
HP:0100266	Synostosis of carpals/tarsals	6885	MAP3K7	OMIM:157800
HP:0100266	Synostosis of carpals/tarsals	267010	RNU12	ORPHA:85199
HP:0100266	Synostosis of carpals/tarsals	2192	FBLN1	OMIM:608180
HP:0100266	Synostosis of carpals/tarsals	2737	GLI3	ORPHA:93322
HP:0100266	Synostosis of carpals/tarsals	2316	FLNA	ORPHA:90652
HP:0100266	Synostosis of carpals/tarsals	85301	COL27A1	OMIM:615155
HP:0100266	Synostosis of carpals/tarsals	57167	SALL4	OMIM:147750
HP:0100266	Synostosis of carpals/tarsals	9939	RBM8A	OMIM:274000
HP:0100266	Synostosis of carpals/tarsals	5077	PAX3	OMIM:148820
HP:0100266	Synostosis of carpals/tarsals	9401	RECQL4	OMIM:218600
HP:0100266	Synostosis of carpals/tarsals	3239	HOXD13	OMIM:186300
HP:0100266	Synostosis of carpals/tarsals	126792	B3GALT6	OMIM:615349
HP:0100266	Synostosis of carpals/tarsals	126792	B3GALT6	OMIM:271640
HP:0100266	Synostosis of carpals/tarsals	22856	CHSY1	ORPHA:363417
HP:0008430	Anterior beaking of lumbar vertebrae	2720	GLB1	OMIM:230650
HP:0008430	Anterior beaking of lumbar vertebrae	2517	FUCA1	OMIM:230000
HP:0008430	Anterior beaking of lumbar vertebrae	2517	FUCA1	ORPHA:349
HP:0008430	Anterior beaking of lumbar vertebrae	2588	GALNS	OMIM:253000
HP:0008430	Anterior beaking of lumbar vertebrae	2990	GUSB	OMIM:253220
HP:0008430	Anterior beaking of lumbar vertebrae	2990	GUSB	ORPHA:584
HP:0008430	Anterior beaking of lumbar vertebrae	175	AGA	ORPHA:93
HP:0010972	Anemia of inadequate production	10841	FTCD	ORPHA:51208
HP:0010972	Anemia of inadequate production	10841	FTCD	OMIM:229100
HP:0010972	Anemia of inadequate production	2694	CBLIF	OMIM:261000
HP:0010972	Anemia of inadequate production	6573	SLC19A1	OMIM:620603
HP:0010972	Anemia of inadequate production	25974	MMACHC	ORPHA:79282
HP:0010972	Anemia of inadequate production	25974	MMACHC	OMIM:277400
HP:0010972	Anemia of inadequate production	55788	LMBRD1	ORPHA:79284
HP:0010972	Anemia of inadequate production	55788	LMBRD1	OMIM:277380
HP:0010972	Anemia of inadequate production	27249	MMADHC	OMIM:277410
HP:0010972	Anemia of inadequate production	1719	DHFR	OMIM:613839
HP:0010972	Anemia of inadequate production	113235	SLC46A1	ORPHA:90045
HP:0010972	Anemia of inadequate production	3251	HPRT1	OMIM:300322
HP:0010972	Anemia of inadequate production	26227	PHGDH	OMIM:601815
HP:0010972	Anemia of inadequate production	26227	PHGDH	ORPHA:79351
HP:0010972	Anemia of inadequate production	4548	MTR	OMIM:250940
HP:0010972	Anemia of inadequate production	5052	PRDX1	OMIM:277400
HP:0010972	Anemia of inadequate production	164656	TMPRSS6	ORPHA:209981
HP:0010972	Anemia of inadequate production	8074	FGF23	ORPHA:89937
HP:0010972	Anemia of inadequate production	324	APC	ORPHA:261584
HP:0010972	Anemia of inadequate production	1729	DIAPH1	ORPHA:494444
HP:0010972	Anemia of inadequate production	2590	GALNT2	OMIM:618885
HP:0010972	Anemia of inadequate production	85365	ALG2	OMIM:607906
HP:0010972	Anemia of inadequate production	8260	NAA10	OMIM:300855
HP:0010972	Anemia of inadequate production	2335	FN1	ORPHA:93315
HP:0010972	Anemia of inadequate production	1280	COL2A1	ORPHA:93315
HP:0010972	Anemia of inadequate production	50943	FOXP3	ORPHA:37042
HP:0010972	Anemia of inadequate production	3753	KCNE1	ORPHA:90647
HP:0010972	Anemia of inadequate production	3784	KCNQ1	ORPHA:90647
HP:0010972	Anemia of inadequate production	6794	STK11	OMIM:175200
HP:0010972	Anemia of inadequate production	9451	EIF2AK3	ORPHA:1667
HP:0010972	Anemia of inadequate production	2000	ELF4	OMIM:301074
HP:0010972	Anemia of inadequate production	4312	MMP1	ORPHA:79408
HP:0010972	Anemia of inadequate production	1294	COL7A1	ORPHA:79408
HP:0010972	Anemia of inadequate production	1604	CD55	OMIM:226300
HP:0010972	Anemia of inadequate production	10845	CLPX	OMIM:618015
HP:0010972	Anemia of inadequate production	5825	ABCD3	OMIM:616278
HP:0010972	Anemia of inadequate production	5321	PLA2G4A	OMIM:618372
HP:0010972	Anemia of inadequate production	356	FASLG	OMIM:601859
HP:0010972	Anemia of inadequate production	355	FAS	OMIM:601859
HP:0010972	Anemia of inadequate production	843	CASP10	OMIM:603909
HP:0010972	Anemia of inadequate production	1188	CLCNKB	ORPHA:358
HP:0010972	Anemia of inadequate production	6559	SLC12A3	ORPHA:358
HP:0010972	Anemia of inadequate production	6138	RPL15	ORPHA:124
HP:0010972	Anemia of inadequate production	6138	RPL15	OMIM:615550
HP:0010972	Anemia of inadequate production	6224	RPS20	ORPHA:124
HP:0010972	Anemia of inadequate production	6165	RPL35A	ORPHA:124
HP:0010972	Anemia of inadequate production	6132	RPL8	ORPHA:124
HP:0010972	Anemia of inadequate production	6223	RPS19	ORPHA:124
HP:0010972	Anemia of inadequate production	6232	RPS27	ORPHA:124
HP:0010972	Anemia of inadequate production	55027	HEATR3	ORPHA:124
HP:0010972	Anemia of inadequate production	6160	RPL31	ORPHA:124
HP:0010972	Anemia of inadequate production	6201	RPS7	ORPHA:124
HP:0010972	Anemia of inadequate production	6155	RPL27	ORPHA:124
HP:0010972	Anemia of inadequate production	6234	RPS28	ORPHA:124
HP:0010972	Anemia of inadequate production	6135	RPL11	ORPHA:124
HP:0010972	Anemia of inadequate production	6229	RPS24	ORPHA:124
HP:0010972	Anemia of inadequate production	6125	RPL5	ORPHA:124
HP:0010972	Anemia of inadequate production	6204	RPS10	ORPHA:124
HP:0010972	Anemia of inadequate production	6133	RPL9	ORPHA:124
HP:0010972	Anemia of inadequate production	6231	RPS26	ORPHA:124
HP:0010972	Anemia of inadequate production	11224	RPL35	ORPHA:124
HP:0010972	Anemia of inadequate production	6218	RPS17	ORPHA:124
HP:0010972	Anemia of inadequate production	6210	RPS15A	ORPHA:124
HP:0010972	Anemia of inadequate production	90121	TSR2	ORPHA:124
HP:0010972	Anemia of inadequate production	6141	RPL18	ORPHA:124
HP:0010972	Anemia of inadequate production	6235	RPS29	ORPHA:124
HP:0010972	Anemia of inadequate production	51816	ADA2	ORPHA:124
HP:0010972	Anemia of inadequate production	3931	LCAT	OMIM:245900
HP:0010972	Anemia of inadequate production	11277	TREX1	ORPHA:247691
HP:0010972	Anemia of inadequate production	7386	UQCRFS1	OMIM:618775
HP:0010972	Anemia of inadequate production	7167	TPI1	OMIM:615512
HP:0010972	Anemia of inadequate production	3098	HK1	OMIM:235700
HP:0010972	Anemia of inadequate production	226	ALDOA	OMIM:611881
HP:0010972	Anemia of inadequate production	171023	ASXL1	ORPHA:98849
HP:0010972	Anemia of inadequate production	3815	KIT	ORPHA:98849
HP:0010972	Anemia of inadequate production	6427	SRSF2	ORPHA:98849
HP:0010972	Anemia of inadequate production	950	SCARB2	OMIM:254900
HP:0010972	Anemia of inadequate production	5826	ABCD4	OMIM:614857
HP:0010972	Anemia of inadequate production	4552	MTRR	OMIM:236270
HP:0010972	Anemia of inadequate production	4615	MYD88	ORPHA:33226
HP:0010972	Anemia of inadequate production	537	ATP6AP1	OMIM:300972
HP:0010972	Anemia of inadequate production	1861	TOR1A	OMIM:618947
HP:0010972	Anemia of inadequate production	79631	EFL1	OMIM:617941
HP:0010972	Anemia of inadequate production	79631	EFL1	ORPHA:811
HP:0010972	Anemia of inadequate production	134218	DNAJC21	ORPHA:811
HP:0010972	Anemia of inadequate production	51119	SBDS	ORPHA:811
HP:0010972	Anemia of inadequate production	219285	SAMD9L	OMIM:159550
HP:0010972	Anemia of inadequate production	219285	SAMD9L	ORPHA:2585
HP:0010972	Anemia of inadequate production	22	ABCB7	OMIM:301310
HP:0010972	Anemia of inadequate production	22	ABCB7	ORPHA:2802
HP:0010972	Anemia of inadequate production	80324	PUS1	OMIM:600462
HP:0010972	Anemia of inadequate production	7466	WFS1	OMIM:222300
HP:0010972	Anemia of inadequate production	23395	LARS2	OMIM:617021
HP:0010972	Anemia of inadequate production	51095	TRNT1	OMIM:616084
HP:0010972	Anemia of inadequate production	3313	HSPA9	OMIM:182170
HP:0010972	Anemia of inadequate production	51067	YARS2	OMIM:613561
HP:0010972	Anemia of inadequate production	10560	SLC19A2	OMIM:249270
HP:0010972	Anemia of inadequate production	55240	STEAP3	OMIM:615234
HP:0010972	Anemia of inadequate production	54977	SLC25A38	OMIM:205950
HP:0010972	Anemia of inadequate production	23479	ISCU	OMIM:255125
HP:0010972	Anemia of inadequate production	7040	TGFB1	OMIM:618213
HP:0010972	Anemia of inadequate production	7018	TF	OMIM:209300
HP:0010972	Anemia of inadequate production	1594	CYP27B1	ORPHA:289157
HP:0010972	Anemia of inadequate production	120227	CYP2R1	ORPHA:289157
HP:0010972	Anemia of inadequate production	3658	IREB2	OMIM:618451
HP:0010972	Anemia of inadequate production	10265	IRX5	OMIM:611174
HP:0010972	Anemia of inadequate production	63916	ELMO2	OMIM:606893
HP:0010972	Anemia of inadequate production	9051	PSTPIP1	OMIM:604416
HP:0010972	Anemia of inadequate production	3039	HBA1	ORPHA:98791
HP:0010972	Anemia of inadequate production	3040	HBA2	ORPHA:98791
HP:0010972	Anemia of inadequate production	3045	HBD	ORPHA:231237
HP:0010972	Anemia of inadequate production	3047	HBG1	ORPHA:231237
HP:0010972	Anemia of inadequate production	2193	FARSA	OMIM:619013
HP:0010972	Anemia of inadequate production	3572	IL6ST	OMIM:619750
HP:0010972	Anemia of inadequate production	26007	TKFC	OMIM:618805
HP:0010972	Anemia of inadequate production	847	CAT	ORPHA:926
HP:0010972	Anemia of inadequate production	55109	AGGF1	ORPHA:90308
HP:0010972	Anemia of inadequate production	5290	PIK3CA	ORPHA:90308
HP:0010972	Anemia of inadequate production	7454	WAS	ORPHA:906
HP:0010972	Anemia of inadequate production	7456	WIPF1	ORPHA:906
HP:0010972	Anemia of inadequate production	6609	SMPD1	OMIM:257200
HP:0010972	Anemia of inadequate production	29110	TBK1	OMIM:620880
HP:0010972	Anemia of inadequate production	79644	SRD5A3	ORPHA:324737
HP:0010972	Anemia of inadequate production	79644	SRD5A3	OMIM:612379
HP:0010972	Anemia of inadequate production	112812	FDX2	OMIM:251900
HP:0010972	Anemia of inadequate production	1468	SLC25A10	OMIM:618972
HP:0010972	Anemia of inadequate production	8737	RIPK1	OMIM:618852
HP:0010972	Anemia of inadequate production	546	ATRX	ORPHA:231401
HP:0010972	Anemia of inadequate production	8803	SUCLA2	OMIM:612073
HP:0010972	Anemia of inadequate production	7010	TEK	ORPHA:1059
HP:0010972	Anemia of inadequate production	55315	SLC29A3	ORPHA:168569
HP:0010972	Anemia of inadequate production	2542	SLC37A4	OMIM:619525
HP:0010972	Anemia of inadequate production	89874	SLC25A21	OMIM:618811
HP:0010972	Anemia of inadequate production	5696	PSMB8	OMIM:256040
HP:0010972	Anemia of inadequate production	2235	FECH	ORPHA:79278
HP:0010972	Anemia of inadequate production	55343	SLC35C1	ORPHA:99843
HP:0010972	Anemia of inadequate production	10059	DNM1L	ORPHA:98673
HP:0010972	Anemia of inadequate production	4976	OPA1	ORPHA:98673
HP:0010972	Anemia of inadequate production	8029	CUBN	ORPHA:35858
HP:0010972	Anemia of inadequate production	81693	AMN	ORPHA:35858
HP:0010972	Anemia of inadequate production	26277	TINF2	OMIM:268130
HP:0010972	Anemia of inadequate production	26277	TINF2	OMIM:613990
HP:0010972	Anemia of inadequate production	119559	SFXN4	OMIM:615578
HP:0010972	Anemia of inadequate production	6023	RMRP	OMIM:250250
HP:0010972	Anemia of inadequate production	51520	LARS1	OMIM:615438
HP:0010972	Anemia of inadequate production	6948	TCN2	OMIM:275350
HP:0010972	Anemia of inadequate production	148867	SLC30A7	OMIM:620501
HP:0010972	Anemia of inadequate production	3117	HLA-DQA1	OMIM:212750
HP:0010972	Anemia of inadequate production	3119	HLA-DQB1	OMIM:212750
HP:0010972	Anemia of inadequate production	5700	PSMC1	OMIM:620071
HP:0010972	Anemia of inadequate production	7317	UBA1	OMIM:301054
HP:0010972	Anemia of inadequate production	1352	COX10	OMIM:619046
HP:0010972	Anemia of inadequate production	29127	RACGAP1	OMIM:619789
HP:0010972	Anemia of inadequate production	5880	RAC2	OMIM:608203
HP:0010972	Anemia of inadequate production	6005	RHAG	ORPHA:71275
HP:0010972	Anemia of inadequate production	6006	RHCE	ORPHA:71275
HP:0010972	Anemia of inadequate production	6007	RHD	ORPHA:71275
HP:0010972	Anemia of inadequate production	7372	UMPS	OMIM:258900
HP:0010972	Anemia of inadequate production	374879	ZNF699	OMIM:619488
HP:0010972	Anemia of inadequate production	4598	MVK	OMIM:610377
HP:0010972	Anemia of inadequate production	3735	KARS1	ORPHA:3240
HP:0010972	Anemia of inadequate production	3735	KARS1	OMIM:619147
HP:0010972	Anemia of inadequate production	29775	CARD10	OMIM:619632
HP:0010972	Anemia of inadequate production	131118	DNAJC19	ORPHA:66634
HP:0010972	Anemia of inadequate production	53335	BCL11A	ORPHA:251380
HP:0010972	Anemia of inadequate production	3048	HBG2	ORPHA:251380
HP:0010972	Anemia of inadequate production	28962	OSTM1	OMIM:259720
HP:0010972	Anemia of inadequate production	205327	C2orf69	OMIM:619423
HP:0010972	Anemia of inadequate production	150274	HSCB	OMIM:619523
HP:0010972	Anemia of inadequate production	1356	CP	ORPHA:48818
HP:0010972	Anemia of inadequate production	23729	SHPK	ORPHA:440713
HP:0010972	Anemia of inadequate production	6901	TAFAZZIN	OMIM:302060
HP:0010972	Anemia of inadequate production	55163	PNPO	ORPHA:79096
HP:0010972	Anemia of inadequate production	672	BRCA1	ORPHA:84
HP:0010972	Anemia of inadequate production	10459	MAD2L2	ORPHA:84
HP:0010972	Anemia of inadequate production	7516	XRCC2	ORPHA:84
HP:0010972	Anemia of inadequate production	29089	UBE2T	ORPHA:84
HP:0010972	Anemia of inadequate production	675	BRCA2	ORPHA:84
HP:0010972	Anemia of inadequate production	55120	FANCL	ORPHA:84
HP:0010972	Anemia of inadequate production	2177	FANCD2	ORPHA:84
HP:0010972	Anemia of inadequate production	2175	FANCA	ORPHA:84
HP:0010972	Anemia of inadequate production	2187	FANCB	ORPHA:84
HP:0010972	Anemia of inadequate production	2176	FANCC	ORPHA:84
HP:0010972	Anemia of inadequate production	2178	FANCE	ORPHA:84
HP:0010972	Anemia of inadequate production	2188	FANCF	ORPHA:84
HP:0010972	Anemia of inadequate production	2189	FANCG	ORPHA:84
HP:0010972	Anemia of inadequate production	5888	RAD51	ORPHA:84
HP:0010972	Anemia of inadequate production	5889	RAD51C	ORPHA:84
HP:0010972	Anemia of inadequate production	55159	RFWD3	ORPHA:84
HP:0010972	Anemia of inadequate production	83990	BRIP1	ORPHA:84
HP:0010972	Anemia of inadequate production	57697	FANCM	ORPHA:84
HP:0010972	Anemia of inadequate production	79728	PALB2	ORPHA:84
HP:0010972	Anemia of inadequate production	84464	SLX4	ORPHA:84
HP:0010972	Anemia of inadequate production	2072	ERCC4	ORPHA:84
HP:0010972	Anemia of inadequate production	55215	FANCI	ORPHA:84
HP:0010972	Anemia of inadequate production	9663	LPIN2	OMIM:609628
HP:0010972	Anemia of inadequate production	212	ALAS2	OMIM:300751
HP:0010972	Anemia of inadequate production	3043	HBB	ORPHA:231222
HP:0010972	Anemia of inadequate production	3043	HBB	ORPHA:231214
HP:0010972	Anemia of inadequate production	3043	HBB	ORPHA:2133
HP:0010972	Anemia of inadequate production	4522	MTHFD1	OMIM:617780
HP:0010972	Anemia of inadequate production	10483	SEC23B	OMIM:224100
HP:0010972	Anemia of inadequate production	6208	RPS14	OMIM:153550
HP:0010972	Anemia of inadequate production	2623	GATA1	ORPHA:67044
HP:0010972	Anemia of inadequate production	2623	GATA1	OMIM:300367
HP:0010972	Anemia of inadequate production	146059	CDAN1	OMIM:224120
HP:0010972	Anemia of inadequate production	10661	KLF1	OMIM:613673
HP:0010972	Anemia of inadequate production	84529	CDIN1	OMIM:615631
HP:0010972	Anemia of inadequate production	54790	TET2	ORPHA:98826
HP:0010972	Anemia of inadequate production	54790	TET2	ORPHA:75564
HP:0010972	Anemia of inadequate production	6154	RPL26	OMIM:614900
HP:0010972	Anemia of inadequate production	84701	COX4I2	OMIM:612714
HP:0010972	Anemia of inadequate production	9493	KIF23	OMIM:105600
HP:0010972	Anemia of inadequate production	6521	SLC4A1	ORPHA:3202
HP:0010972	Anemia of inadequate production	9780	PIEZO1	ORPHA:3202
HP:0010972	Anemia of inadequate production	3783	KCNN4	ORPHA:3202
HP:0010972	Anemia of inadequate production	23451	SF3B1	ORPHA:75564
HP:0001877	Abnormal erythrocyte morphology	2035	EPB41	ORPHA:288
HP:0001877	Abnormal erythrocyte morphology	2995	GYPC	ORPHA:288
HP:0001877	Abnormal erythrocyte morphology	6710	SPTB	ORPHA:288
HP:0001877	Abnormal erythrocyte morphology	6708	SPTA1	ORPHA:288
HP:0001877	Abnormal erythrocyte morphology	9493	KIF23	ORPHA:98870
HP:0001877	Abnormal erythrocyte morphology	29127	RACGAP1	ORPHA:98870
HP:0001877	Abnormal erythrocyte morphology	29071	C1GALT1C1	OMIM:300622
HP:0001877	Abnormal erythrocyte morphology	3313	HSPA9	OMIM:182170
HP:0001877	Abnormal erythrocyte morphology	5313	PKLR	ORPHA:766
HP:0001877	Abnormal erythrocyte morphology	6208	RPS14	ORPHA:86841
HP:0001877	Abnormal erythrocyte morphology	6513	SLC2A1	ORPHA:71277
HP:0001877	Abnormal erythrocyte morphology	5238	PGM3	ORPHA:443811
HP:0001877	Abnormal erythrocyte morphology	5238	PGM3	OMIM:615816
HP:0001877	Abnormal erythrocyte morphology	7174	TPP2	ORPHA:444463
HP:0001877	Abnormal erythrocyte morphology	959	CD40LG	OMIM:308230
HP:0001877	Abnormal erythrocyte morphology	3162	HMOX1	OMIM:614034
HP:0001877	Abnormal erythrocyte morphology	8526	DGKE	OMIM:615008
HP:0001877	Abnormal erythrocyte morphology	2215	FCGR3B	ORPHA:536
HP:0001877	Abnormal erythrocyte morphology	3684	ITGAM	ORPHA:536
HP:0001877	Abnormal erythrocyte morphology	3586	IL10	ORPHA:536
HP:0001877	Abnormal erythrocyte morphology	221895	JAZF1	ORPHA:536
HP:0001877	Abnormal erythrocyte morphology	7292	TNFSF4	ORPHA:536
HP:0001877	Abnormal erythrocyte morphology	720	C4A	ORPHA:536
HP:0001877	Abnormal erythrocyte morphology	55024	BANK1	ORPHA:536
HP:0001877	Abnormal erythrocyte morphology	3500	IGHG1	ORPHA:536
HP:0001877	Abnormal erythrocyte morphology	3654	IRAK1	ORPHA:536
HP:0001877	Abnormal erythrocyte morphology	1380	CR2	ORPHA:536
HP:0001877	Abnormal erythrocyte morphology	1380	CR2	ORPHA:1572
HP:0001877	Abnormal erythrocyte morphology	5133	PDCD1	ORPHA:536
HP:0001877	Abnormal erythrocyte morphology	2113	ETS1	ORPHA:536
HP:0001877	Abnormal erythrocyte morphology	2213	FCGR2B	ORPHA:536
HP:0001877	Abnormal erythrocyte morphology	2213	FCGR2B	OMIM:152700
HP:0001877	Abnormal erythrocyte morphology	10318	TNIP1	ORPHA:536
HP:0001877	Abnormal erythrocyte morphology	7332	UBE2L3	ORPHA:536
HP:0001877	Abnormal erythrocyte morphology	79932	KIAA0319L	ORPHA:536
HP:0001877	Abnormal erythrocyte morphology	4204	MECP2	ORPHA:536
HP:0001877	Abnormal erythrocyte morphology	3663	IRF5	ORPHA:536
HP:0001877	Abnormal erythrocyte morphology	721	C4B	ORPHA:536
HP:0001877	Abnormal erythrocyte morphology	1773	DNASE1	ORPHA:536
HP:0001877	Abnormal erythrocyte morphology	1773	DNASE1	OMIM:152700
HP:0001877	Abnormal erythrocyte morphology	51284	TLR7	ORPHA:536
HP:0001877	Abnormal erythrocyte morphology	6696	SPP1	ORPHA:536
HP:0001877	Abnormal erythrocyte morphology	54899	PXK	ORPHA:536
HP:0001877	Abnormal erythrocyte morphology	7128	TNFAIP3	ORPHA:536
HP:0001877	Abnormal erythrocyte morphology	7128	TNFAIP3	OMIM:616744
HP:0001877	Abnormal erythrocyte morphology	2937	GSS	OMIM:231900
HP:0001877	Abnormal erythrocyte morphology	2937	GSS	OMIM:266130
HP:0001877	Abnormal erythrocyte morphology	103	ADAR	OMIM:615010
HP:0001877	Abnormal erythrocyte morphology	50619	DEF6	OMIM:619573
HP:0001877	Abnormal erythrocyte morphology	966	CD59	OMIM:612300
HP:0001877	Abnormal erythrocyte morphology	79415	CYBC1	OMIM:618935
HP:0001877	Abnormal erythrocyte morphology	23495	TNFRSF13B	ORPHA:1572
HP:0001877	Abnormal erythrocyte morphology	4790	NFKB1	ORPHA:1572
HP:0001877	Abnormal erythrocyte morphology	4791	NFKB2	ORPHA:1572
HP:0001877	Abnormal erythrocyte morphology	115650	TNFRSF13C	ORPHA:1572
HP:0001877	Abnormal erythrocyte morphology	8742	TNFSF12	ORPHA:1572
HP:0001877	Abnormal erythrocyte morphology	930	CD19	ORPHA:1572
HP:0001877	Abnormal erythrocyte morphology	29851	ICOS	ORPHA:1572
HP:0001877	Abnormal erythrocyte morphology	931	MS4A1	ORPHA:1572
HP:0001877	Abnormal erythrocyte morphology	975	CD81	ORPHA:1572
HP:0001877	Abnormal erythrocyte morphology	2783	GNB2	OMIM:619503
HP:0001877	Abnormal erythrocyte morphology	51604	PIGT	OMIM:615399
HP:0001877	Abnormal erythrocyte morphology	1282	COL4A1	OMIM:175780
HP:0001877	Abnormal erythrocyte morphology	286410	ATP11C	OMIM:301015
HP:0001877	Abnormal erythrocyte morphology	4893	NRAS	OMIM:614470
HP:0001877	Abnormal erythrocyte morphology	3845	KRAS	OMIM:614470
HP:0001877	Abnormal erythrocyte morphology	4683	NBN	ORPHA:647
HP:0001877	Abnormal erythrocyte morphology	2212	FCGR2A	OMIM:152700
HP:0001877	Abnormal erythrocyte morphology	8085	KMT2D	OMIM:147920
HP:0001877	Abnormal erythrocyte morphology	7403	KDM6A	OMIM:147920
HP:0001877	Abnormal erythrocyte morphology	25974	MMACHC	ORPHA:79282
HP:0001877	Abnormal erythrocyte morphology	25974	MMACHC	OMIM:277400
HP:0001877	Abnormal erythrocyte morphology	113235	SLC46A1	ORPHA:90045
HP:0001877	Abnormal erythrocyte morphology	26227	PHGDH	OMIM:601815
HP:0001877	Abnormal erythrocyte morphology	26227	PHGDH	ORPHA:79351
HP:0001877	Abnormal erythrocyte morphology	4548	MTR	OMIM:250940
HP:0001877	Abnormal erythrocyte morphology	5052	PRDX1	OMIM:277400
HP:0001877	Abnormal erythrocyte morphology	6772	STAT1	ORPHA:391487
HP:0001877	Abnormal erythrocyte morphology	6772	STAT1	OMIM:614162
HP:0001877	Abnormal erythrocyte morphology	57217	TTC7A	OMIM:243150
HP:0001877	Abnormal erythrocyte morphology	57217	TTC7A	ORPHA:436252
HP:0001877	Abnormal erythrocyte morphology	5580	PRKCD	OMIM:615559
HP:0001877	Abnormal erythrocyte morphology	987	LRBA	OMIM:614700
HP:0001877	Abnormal erythrocyte morphology	6789	STK4	OMIM:614868
HP:0001877	Abnormal erythrocyte morphology	22861	NLRP1	OMIM:617388
HP:0001877	Abnormal erythrocyte morphology	5294	PIK3CG	OMIM:619802
HP:0001877	Abnormal erythrocyte morphology	917	CD3G	OMIM:615607
HP:0001877	Abnormal erythrocyte morphology	868	CBLB	OMIM:620430
HP:0001877	Abnormal erythrocyte morphology	5994	RFXAP	ORPHA:572
HP:0001877	Abnormal erythrocyte morphology	4261	CIITA	ORPHA:572
HP:0001877	Abnormal erythrocyte morphology	5993	RFX5	ORPHA:572
HP:0001877	Abnormal erythrocyte morphology	8625	RFXANK	ORPHA:572
HP:0001877	Abnormal erythrocyte morphology	8625	RFXANK	OMIM:620815
HP:0001877	Abnormal erythrocyte morphology	3937	LCP2	OMIM:619374
HP:0001877	Abnormal erythrocyte morphology	5297	PI4KA	ORPHA:436252
HP:0001877	Abnormal erythrocyte morphology	4733	DRG1	OMIM:620641
HP:0001877	Abnormal erythrocyte morphology	10092	ARPC5	OMIM:620565
HP:0001877	Abnormal erythrocyte morphology	51311	TLR8	OMIM:301078
HP:0001877	Abnormal erythrocyte morphology	56984	PSMG2	OMIM:619183
HP:0001877	Abnormal erythrocyte morphology	28755	TRAC	OMIM:615387
HP:0001877	Abnormal erythrocyte morphology	10125	RASGRP1	OMIM:618534
HP:0001877	Abnormal erythrocyte morphology	7535	ZAP70	ORPHA:911
HP:0001877	Abnormal erythrocyte morphology	54	ACP5	ORPHA:1855
HP:0001877	Abnormal erythrocyte morphology	8074	FGF23	ORPHA:89937
HP:0001877	Abnormal erythrocyte morphology	324	APC	ORPHA:261584
HP:0001877	Abnormal erythrocyte morphology	1729	DIAPH1	ORPHA:494444
HP:0001877	Abnormal erythrocyte morphology	2590	GALNT2	OMIM:618885
HP:0001877	Abnormal erythrocyte morphology	85365	ALG2	OMIM:607906
HP:0001877	Abnormal erythrocyte morphology	2335	FN1	ORPHA:93315
HP:0001877	Abnormal erythrocyte morphology	1280	COL2A1	ORPHA:93315
HP:0001877	Abnormal erythrocyte morphology	3753	KCNE1	ORPHA:90647
HP:0001877	Abnormal erythrocyte morphology	3784	KCNQ1	ORPHA:90647
HP:0001877	Abnormal erythrocyte morphology	9451	EIF2AK3	ORPHA:1667
HP:0001877	Abnormal erythrocyte morphology	2000	ELF4	OMIM:301074
HP:0001877	Abnormal erythrocyte morphology	10845	CLPX	OMIM:618015
HP:0001877	Abnormal erythrocyte morphology	5825	ABCD3	OMIM:616278
HP:0001877	Abnormal erythrocyte morphology	5321	PLA2G4A	OMIM:618372
HP:0001877	Abnormal erythrocyte morphology	1188	CLCNKB	ORPHA:358
HP:0001877	Abnormal erythrocyte morphology	6559	SLC12A3	ORPHA:358
HP:0001877	Abnormal erythrocyte morphology	3931	LCAT	OMIM:245900
HP:0001877	Abnormal erythrocyte morphology	11277	TREX1	ORPHA:247691
HP:0001877	Abnormal erythrocyte morphology	7386	UQCRFS1	OMIM:618775
HP:0001877	Abnormal erythrocyte morphology	7167	TPI1	OMIM:615512
HP:0001877	Abnormal erythrocyte morphology	5826	ABCD4	OMIM:614857
HP:0001877	Abnormal erythrocyte morphology	6138	RPL15	ORPHA:124
HP:0001877	Abnormal erythrocyte morphology	6138	RPL15	OMIM:615550
HP:0001877	Abnormal erythrocyte morphology	6224	RPS20	ORPHA:124
HP:0001877	Abnormal erythrocyte morphology	6165	RPL35A	ORPHA:124
HP:0001877	Abnormal erythrocyte morphology	6165	RPL35A	OMIM:612528
HP:0001877	Abnormal erythrocyte morphology	6132	RPL8	ORPHA:124
HP:0001877	Abnormal erythrocyte morphology	6223	RPS19	ORPHA:124
HP:0001877	Abnormal erythrocyte morphology	6223	RPS19	OMIM:105650
HP:0001877	Abnormal erythrocyte morphology	6160	RPL31	ORPHA:124
HP:0001877	Abnormal erythrocyte morphology	6201	RPS7	ORPHA:124
HP:0001877	Abnormal erythrocyte morphology	6234	RPS28	ORPHA:124
HP:0001877	Abnormal erythrocyte morphology	6135	RPL11	ORPHA:124
HP:0001877	Abnormal erythrocyte morphology	6229	RPS24	ORPHA:124
HP:0001877	Abnormal erythrocyte morphology	6229	RPS24	OMIM:610629
HP:0001877	Abnormal erythrocyte morphology	6125	RPL5	ORPHA:124
HP:0001877	Abnormal erythrocyte morphology	6133	RPL9	ORPHA:124
HP:0001877	Abnormal erythrocyte morphology	6218	RPS17	ORPHA:124
HP:0001877	Abnormal erythrocyte morphology	6218	RPS17	OMIM:612527
HP:0001877	Abnormal erythrocyte morphology	90121	TSR2	ORPHA:124
HP:0001877	Abnormal erythrocyte morphology	6235	RPS29	ORPHA:124
HP:0001877	Abnormal erythrocyte morphology	4615	MYD88	ORPHA:33226
HP:0001877	Abnormal erythrocyte morphology	537	ATP6AP1	OMIM:300972
HP:0001877	Abnormal erythrocyte morphology	10019	SH2B3	OMIM:133100
HP:0001877	Abnormal erythrocyte morphology	54583	EGLN1	OMIM:609820
HP:0001877	Abnormal erythrocyte morphology	2271	FH	OMIM:606812
HP:0001877	Abnormal erythrocyte morphology	94	ACVRL1	OMIM:600376
HP:0001877	Abnormal erythrocyte morphology	7428	VHL	ORPHA:892
HP:0001877	Abnormal erythrocyte morphology	7428	VHL	OMIM:193300
HP:0001877	Abnormal erythrocyte morphology	595	CCND1	ORPHA:892
HP:0001877	Abnormal erythrocyte morphology	595	CCND1	OMIM:193300
HP:0001877	Abnormal erythrocyte morphology	2022	ENG	OMIM:187300
HP:0001877	Abnormal erythrocyte morphology	1727	CYB5R3	OMIM:250800
HP:0001877	Abnormal erythrocyte morphology	55532	SLC30A10	ORPHA:309854
HP:0001877	Abnormal erythrocyte morphology	55532	SLC30A10	OMIM:613280
HP:0001877	Abnormal erythrocyte morphology	8260	NAA10	OMIM:300855
HP:0001877	Abnormal erythrocyte morphology	3717	JAK2	ORPHA:729
HP:0001877	Abnormal erythrocyte morphology	2057	EPOR	ORPHA:90042
HP:0001877	Abnormal erythrocyte morphology	6521	SLC4A1	ORPHA:3202
HP:0001877	Abnormal erythrocyte morphology	9780	PIEZO1	ORPHA:3202
HP:0001877	Abnormal erythrocyte morphology	3783	KCNN4	ORPHA:3202
HP:0001877	Abnormal erythrocyte morphology	669	BPGM	OMIM:222800
HP:0001877	Abnormal erythrocyte morphology	1910	EDNRB	OMIM:600501
HP:0001877	Abnormal erythrocyte morphology	3040	HBA2	OMIM:617981
HP:0001877	Abnormal erythrocyte morphology	3039	HBA1	OMIM:617981
HP:0001877	Abnormal erythrocyte morphology	3043	HBB	OMIM:617980
HP:0001877	Abnormal erythrocyte morphology	2034	EPAS1	OMIM:611783
HP:0001877	Abnormal erythrocyte morphology	2056	EPO	OMIM:617907
HP:0001877	Abnormal erythrocyte morphology	5978	REST	ORPHA:654
HP:0001877	Abnormal erythrocyte morphology	129563	DIS3L2	ORPHA:654
HP:0001877	Abnormal erythrocyte morphology	675	BRCA2	ORPHA:654
HP:0001877	Abnormal erythrocyte morphology	9319	TRIP13	ORPHA:654
HP:0001877	Abnormal erythrocyte morphology	7490	WT1	ORPHA:654
HP:0001877	Abnormal erythrocyte morphology	10155	TRIM28	ORPHA:654
HP:0001877	Abnormal erythrocyte morphology	11281	POU6F2	ORPHA:654
HP:0001877	Abnormal erythrocyte morphology	2719	GPC3	ORPHA:654
HP:0001877	Abnormal erythrocyte morphology	283120	H19	ORPHA:654
HP:0001877	Abnormal erythrocyte morphology	26191	PTPN22	ORPHA:397
HP:0001877	Abnormal erythrocyte morphology	26191	PTPN22	ORPHA:85408
HP:0001877	Abnormal erythrocyte morphology	3106	HLA-B	ORPHA:397
HP:0001877	Abnormal erythrocyte morphology	3106	HLA-B	ORPHA:3287
HP:0001877	Abnormal erythrocyte morphology	3106	HLA-B	ORPHA:36426
HP:0001877	Abnormal erythrocyte morphology	3123	HLA-DRB1	ORPHA:397
HP:0001877	Abnormal erythrocyte morphology	3123	HLA-DRB1	ORPHA:797
HP:0001877	Abnormal erythrocyte morphology	8974	P4HA2	ORPHA:397
HP:0001877	Abnormal erythrocyte morphology	261734	NPHP4	OMIM:606996
HP:0001877	Abnormal erythrocyte morphology	261734	NPHP4	OMIM:606966
HP:0001877	Abnormal erythrocyte morphology	26235	FBXL4	OMIM:615471
HP:0001877	Abnormal erythrocyte morphology	3145	HMBS	OMIM:620704
HP:0001877	Abnormal erythrocyte morphology	55240	STEAP3	OMIM:615234
HP:0001877	Abnormal erythrocyte morphology	55240	STEAP3	ORPHA:300298
HP:0001877	Abnormal erythrocyte morphology	84334	COA8	ORPHA:436271
HP:0001877	Abnormal erythrocyte morphology	81570	CLPB	OMIM:619835
HP:0001877	Abnormal erythrocyte morphology	1736	DKC1	OMIM:305000
HP:0001877	Abnormal erythrocyte morphology	1736	DKC1	ORPHA:3322
HP:0001877	Abnormal erythrocyte morphology	1736	DKC1	ORPHA:1775
HP:0001877	Abnormal erythrocyte morphology	1161	ERCC8	ORPHA:90321
HP:0001877	Abnormal erythrocyte morphology	2072	ERCC4	ORPHA:90321
HP:0001877	Abnormal erythrocyte morphology	2072	ERCC4	ORPHA:84
HP:0001877	Abnormal erythrocyte morphology	2074	ERCC6	ORPHA:90321
HP:0001877	Abnormal erythrocyte morphology	3909	LAMA3	ORPHA:79404
HP:0001877	Abnormal erythrocyte morphology	3909	LAMA3	ORPHA:79402
HP:0001877	Abnormal erythrocyte morphology	3918	LAMC2	ORPHA:79404
HP:0001877	Abnormal erythrocyte morphology	3918	LAMC2	ORPHA:79402
HP:0001877	Abnormal erythrocyte morphology	3914	LAMB3	ORPHA:79404
HP:0001877	Abnormal erythrocyte morphology	3914	LAMB3	ORPHA:79402
HP:0001877	Abnormal erythrocyte morphology	114803	MYSM1	ORPHA:508542
HP:0001877	Abnormal erythrocyte morphology	114803	MYSM1	OMIM:618116
HP:0001877	Abnormal erythrocyte morphology	1308	COL17A1	ORPHA:79406
HP:0001877	Abnormal erythrocyte morphology	1308	COL17A1	ORPHA:79402
HP:0001877	Abnormal erythrocyte morphology	4312	MMP1	ORPHA:79408
HP:0001877	Abnormal erythrocyte morphology	1294	COL7A1	ORPHA:79408
HP:0001877	Abnormal erythrocyte morphology	1294	COL7A1	ORPHA:79409
HP:0001877	Abnormal erythrocyte morphology	1294	COL7A1	ORPHA:79410
HP:0001877	Abnormal erythrocyte morphology	1294	COL7A1	ORPHA:79411
HP:0001877	Abnormal erythrocyte morphology	1294	COL7A1	OMIM:226600
HP:0001877	Abnormal erythrocyte morphology	1294	COL7A1	ORPHA:89842
HP:0001877	Abnormal erythrocyte morphology	4867	NPHP1	OMIM:266900
HP:0001877	Abnormal erythrocyte morphology	4867	NPHP1	OMIM:256100
HP:0001877	Abnormal erythrocyte morphology	249	ALPL	OMIM:241500
HP:0001877	Abnormal erythrocyte morphology	4141	MARS1	OMIM:615486
HP:0001877	Abnormal erythrocyte morphology	2050	EPHB4	OMIM:617300
HP:0001877	Abnormal erythrocyte morphology	2175	FANCA	OMIM:227650
HP:0001877	Abnormal erythrocyte morphology	2175	FANCA	ORPHA:84
HP:0001877	Abnormal erythrocyte morphology	2120	ETV6	OMIM:616216
HP:0001877	Abnormal erythrocyte morphology	790	CAD	OMIM:616457
HP:0001877	Abnormal erythrocyte morphology	5184	PEPD	OMIM:170100
HP:0001877	Abnormal erythrocyte morphology	65082	VPS33A	OMIM:617303
HP:0001877	Abnormal erythrocyte morphology	65082	VPS33A	ORPHA:505248
HP:0001877	Abnormal erythrocyte morphology	2188	FANCF	OMIM:603467
HP:0001877	Abnormal erythrocyte morphology	2188	FANCF	ORPHA:84
HP:0001877	Abnormal erythrocyte morphology	5428	POLG	ORPHA:298
HP:0001877	Abnormal erythrocyte morphology	1890	TYMP	ORPHA:298
HP:0001877	Abnormal erythrocyte morphology	3980	LIG3	ORPHA:298
HP:0001877	Abnormal erythrocyte morphology	50484	RRM2B	ORPHA:298
HP:0001877	Abnormal erythrocyte morphology	219285	SAMD9L	OMIM:159550
HP:0001877	Abnormal erythrocyte morphology	6023	RMRP	ORPHA:175
HP:0001877	Abnormal erythrocyte morphology	6023	RMRP	OMIM:250250
HP:0001877	Abnormal erythrocyte morphology	6023	RMRP	ORPHA:39041
HP:0001877	Abnormal erythrocyte morphology	81693	AMN	OMIM:618882
HP:0001877	Abnormal erythrocyte morphology	3045	HBD	ORPHA:231237
HP:0001877	Abnormal erythrocyte morphology	3047	HBG1	ORPHA:231237
HP:0001877	Abnormal erythrocyte morphology	3047	HBG1	ORPHA:46532
HP:0001877	Abnormal erythrocyte morphology	657	BMPR1A	OMIM:174900
HP:0001877	Abnormal erythrocyte morphology	657	BMPR1A	ORPHA:79076
HP:0001877	Abnormal erythrocyte morphology	657	BMPR1A	ORPHA:329971
HP:0001877	Abnormal erythrocyte morphology	4089	SMAD4	OMIM:174900
HP:0001877	Abnormal erythrocyte morphology	4089	SMAD4	OMIM:175050
HP:0001877	Abnormal erythrocyte morphology	4089	SMAD4	ORPHA:774
HP:0001877	Abnormal erythrocyte morphology	4089	SMAD4	ORPHA:329971
HP:0001877	Abnormal erythrocyte morphology	6773	STAT2	OMIM:618886
HP:0001877	Abnormal erythrocyte morphology	3691	ITGB4	ORPHA:79402
HP:0001877	Abnormal erythrocyte morphology	1130	LYST	ORPHA:167
HP:0001877	Abnormal erythrocyte morphology	1130	LYST	OMIM:214500
HP:0001877	Abnormal erythrocyte morphology	2624	GATA2	OMIM:614172
HP:0001877	Abnormal erythrocyte morphology	5442	POLRMT	OMIM:619743
HP:0001877	Abnormal erythrocyte morphology	80739	MPIG6B	OMIM:617441
HP:0001877	Abnormal erythrocyte morphology	2313	FLI1	ORPHA:370348
HP:0001877	Abnormal erythrocyte morphology	3981	LIG4	ORPHA:235
HP:0001877	Abnormal erythrocyte morphology	3981	LIG4	ORPHA:39041
HP:0001877	Abnormal erythrocyte morphology	54888	NSUN2	ORPHA:235
HP:0001877	Abnormal erythrocyte morphology	9056	SLC7A7	ORPHA:470
HP:0001877	Abnormal erythrocyte morphology	9056	SLC7A7	OMIM:222700
HP:0001877	Abnormal erythrocyte morphology	1621	DBH	ORPHA:230
HP:0001877	Abnormal erythrocyte morphology	5972	REN	OMIM:613092
HP:0001877	Abnormal erythrocyte morphology	10661	KLF1	ORPHA:46532
HP:0001877	Abnormal erythrocyte morphology	10661	KLF1	OMIM:613673
HP:0001877	Abnormal erythrocyte morphology	3048	HBG2	ORPHA:46532
HP:0001877	Abnormal erythrocyte morphology	3048	HBG2	OMIM:613977
HP:0001877	Abnormal erythrocyte morphology	54914	FOCAD	OMIM:619991
HP:0001877	Abnormal erythrocyte morphology	54440	SASH3	OMIM:301082
HP:0001877	Abnormal erythrocyte morphology	166785	MMAA	OMIM:251100
HP:0001877	Abnormal erythrocyte morphology	5896	RAG1	OMIM:603554
HP:0001877	Abnormal erythrocyte morphology	5896	RAG1	ORPHA:39041
HP:0001877	Abnormal erythrocyte morphology	5897	RAG2	OMIM:603554
HP:0001877	Abnormal erythrocyte morphology	5897	RAG2	ORPHA:39041
HP:0001877	Abnormal erythrocyte morphology	64421	DCLRE1C	OMIM:603554
HP:0001877	Abnormal erythrocyte morphology	64421	DCLRE1C	ORPHA:39041
HP:0001877	Abnormal erythrocyte morphology	5551	PRF1	OMIM:603553
HP:0001877	Abnormal erythrocyte morphology	5551	PRF1	ORPHA:540
HP:0001877	Abnormal erythrocyte morphology	5551	PRF1	ORPHA:88
HP:0001877	Abnormal erythrocyte morphology	8676	STX11	OMIM:603552
HP:0001877	Abnormal erythrocyte morphology	8676	STX11	ORPHA:540
HP:0001877	Abnormal erythrocyte morphology	11224	RPL35	OMIM:618312
HP:0001877	Abnormal erythrocyte morphology	6210	RPS15A	OMIM:618313
HP:0001877	Abnormal erythrocyte morphology	150274	HSCB	OMIM:619523
HP:0001877	Abnormal erythrocyte morphology	11311	VPS45	OMIM:615285
HP:0001877	Abnormal erythrocyte morphology	50485	SMARCAL1	ORPHA:1830
HP:0001877	Abnormal erythrocyte morphology	50485	SMARCAL1	OMIM:242900
HP:0001877	Abnormal erythrocyte morphology	22	ABCB7	ORPHA:2802
HP:0001877	Abnormal erythrocyte morphology	22	ABCB7	OMIM:301310
HP:0001877	Abnormal erythrocyte morphology	2542	SLC37A4	OMIM:619525
HP:0001877	Abnormal erythrocyte morphology	2542	SLC37A4	ORPHA:79259
HP:0001877	Abnormal erythrocyte morphology	5335	PLCG1	OMIM:620514
HP:0001877	Abnormal erythrocyte morphology	55072	RNF31	OMIM:620632
HP:0001877	Abnormal erythrocyte morphology	540	ATP7B	OMIM:277900
HP:0001877	Abnormal erythrocyte morphology	540	ATP7B	ORPHA:905
HP:0001877	Abnormal erythrocyte morphology	19	ABCA1	ORPHA:31150
HP:0001877	Abnormal erythrocyte morphology	90	ACVR1	ORPHA:337
HP:0001877	Abnormal erythrocyte morphology	5213	PFKM	ORPHA:371
HP:0001877	Abnormal erythrocyte morphology	2189	FANCG	OMIM:614082
HP:0001877	Abnormal erythrocyte morphology	2189	FANCG	ORPHA:84
HP:0001877	Abnormal erythrocyte morphology	55612	FERMT1	ORPHA:2908
HP:0001877	Abnormal erythrocyte morphology	5692	PSMB4	OMIM:617591
HP:0001877	Abnormal erythrocyte morphology	55120	FANCL	OMIM:614083
HP:0001877	Abnormal erythrocyte morphology	55120	FANCL	ORPHA:84
HP:0001877	Abnormal erythrocyte morphology	6603	SMARCD2	OMIM:617475
HP:0001877	Abnormal erythrocyte morphology	8565	YARS1	OMIM:619418
HP:0001877	Abnormal erythrocyte morphology	2157	F8	ORPHA:169802
HP:0001877	Abnormal erythrocyte morphology	2184	FAH	OMIM:276700
HP:0001877	Abnormal erythrocyte morphology	404672	GTF2H5	ORPHA:33364
HP:0001877	Abnormal erythrocyte morphology	833	CARS1	ORPHA:33364
HP:0001877	Abnormal erythrocyte morphology	2068	ERCC2	ORPHA:33364
HP:0001877	Abnormal erythrocyte morphology	7737	RNF113A	ORPHA:33364
HP:0001877	Abnormal erythrocyte morphology	136647	MPLKIP	ORPHA:33364
HP:0001877	Abnormal erythrocyte morphology	6897	TARS1	ORPHA:33364
HP:0001877	Abnormal erythrocyte morphology	16	AARS1	ORPHA:33364
HP:0001877	Abnormal erythrocyte morphology	2071	ERCC3	ORPHA:33364
HP:0001877	Abnormal erythrocyte morphology	2961	GTF2E2	ORPHA:33364
HP:0001877	Abnormal erythrocyte morphology	64127	NOD2	ORPHA:90340
HP:0001877	Abnormal erythrocyte morphology	79053	ALG8	ORPHA:79325
HP:0001877	Abnormal erythrocyte morphology	79053	ALG8	OMIM:608104
HP:0001877	Abnormal erythrocyte morphology	2629	GBA1	ORPHA:77261
HP:0001877	Abnormal erythrocyte morphology	2629	GBA1	ORPHA:77260
HP:0001877	Abnormal erythrocyte morphology	2629	GBA1	ORPHA:77259
HP:0001877	Abnormal erythrocyte morphology	2629	GBA1	OMIM:230800
HP:0001877	Abnormal erythrocyte morphology	2629	GBA1	ORPHA:2072
HP:0001877	Abnormal erythrocyte morphology	2629	GBA1	OMIM:230900
HP:0001877	Abnormal erythrocyte morphology	2629	GBA1	OMIM:608013
HP:0001877	Abnormal erythrocyte morphology	2629	GBA1	ORPHA:85212
HP:0001877	Abnormal erythrocyte morphology	9742	IFT140	OMIM:266920
HP:0001877	Abnormal erythrocyte morphology	51362	CDC40	OMIM:619302
HP:0001877	Abnormal erythrocyte morphology	5888	RAD51	OMIM:617244
HP:0001877	Abnormal erythrocyte morphology	5888	RAD51	ORPHA:84
HP:0001877	Abnormal erythrocyte morphology	5256	PHKA2	ORPHA:264580
HP:0001877	Abnormal erythrocyte morphology	5261	PHKG2	ORPHA:264580
HP:0001877	Abnormal erythrocyte morphology	10459	MAD2L2	OMIM:617243
HP:0001877	Abnormal erythrocyte morphology	10459	MAD2L2	ORPHA:84
HP:0001877	Abnormal erythrocyte morphology	4069	LYZ	OMIM:620658
HP:0001877	Abnormal erythrocyte morphology	5908	RAP1B	OMIM:620654
HP:0001877	Abnormal erythrocyte morphology	6730	SRP68	OMIM:620534
HP:0001877	Abnormal erythrocyte morphology	2582	GALE	OMIM:620776
HP:0001877	Abnormal erythrocyte morphology	204	AK2	ORPHA:33355
HP:0001877	Abnormal erythrocyte morphology	846	CASR	OMIM:239200
HP:0001877	Abnormal erythrocyte morphology	4594	MMUT	ORPHA:79312
HP:0001877	Abnormal erythrocyte morphology	4594	MMUT	ORPHA:289916
HP:0001877	Abnormal erythrocyte morphology	950	SCARB2	ORPHA:77259
HP:0001877	Abnormal erythrocyte morphology	9949	AMMECR1	OMIM:300990
HP:0001877	Abnormal erythrocyte morphology	3155	HMGCL	ORPHA:20
HP:0001877	Abnormal erythrocyte morphology	3155	HMGCL	OMIM:246450
HP:0001877	Abnormal erythrocyte morphology	4558	MT-TF	ORPHA:550
HP:0001877	Abnormal erythrocyte morphology	4572	MT-TQ	ORPHA:550
HP:0001877	Abnormal erythrocyte morphology	4512	MT-CO1	ORPHA:550
HP:0001877	Abnormal erythrocyte morphology	4513	MT-CO2	ORPHA:550
HP:0001877	Abnormal erythrocyte morphology	4514	MT-CO3	ORPHA:550
HP:0001877	Abnormal erythrocyte morphology	4578	MT-TW	ORPHA:550
HP:0001877	Abnormal erythrocyte morphology	4540	MT-ND5	ORPHA:550
HP:0001877	Abnormal erythrocyte morphology	4541	MT-ND6	ORPHA:550
HP:0001877	Abnormal erythrocyte morphology	4535	MT-ND1	ORPHA:550
HP:0001877	Abnormal erythrocyte morphology	4538	MT-ND4	ORPHA:550
HP:0001877	Abnormal erythrocyte morphology	4567	MT-TL1	ORPHA:550
HP:0001877	Abnormal erythrocyte morphology	4574	MT-TS1	ORPHA:550
HP:0001877	Abnormal erythrocyte morphology	4574	MT-TS1	OMIM:220110
HP:0001877	Abnormal erythrocyte morphology	4575	MT-TS2	ORPHA:550
HP:0001877	Abnormal erythrocyte morphology	4564	MT-TH	ORPHA:550
HP:0001877	Abnormal erythrocyte morphology	5076	PAX2	ORPHA:97362
HP:0001877	Abnormal erythrocyte morphology	5087	PBX1	ORPHA:97362
HP:0001877	Abnormal erythrocyte morphology	695	BTK	OMIM:300755
HP:0001877	Abnormal erythrocyte morphology	695	BTK	ORPHA:47
HP:0001877	Abnormal erythrocyte morphology	54892	NCAPG2	OMIM:618460
HP:0001877	Abnormal erythrocyte morphology	3659	IRF1	OMIM:620668
HP:0001877	Abnormal erythrocyte morphology	9842	PLEKHM1	OMIM:618107
HP:0001877	Abnormal erythrocyte morphology	9842	PLEKHM1	ORPHA:210110
HP:0001877	Abnormal erythrocyte morphology	4179	CD46	OMIM:612922
HP:0001877	Abnormal erythrocyte morphology	629	CFB	OMIM:612924
HP:0001877	Abnormal erythrocyte morphology	6916	TBXAS1	ORPHA:1802
HP:0001877	Abnormal erythrocyte morphology	3426	CFI	OMIM:612923
HP:0001877	Abnormal erythrocyte morphology	7056	THBD	OMIM:612926
HP:0001877	Abnormal erythrocyte morphology	718	C3	OMIM:612925
HP:0001877	Abnormal erythrocyte morphology	256297	PTF1A	OMIM:609069
HP:0001877	Abnormal erythrocyte morphology	10312	TCIRG1	ORPHA:667
HP:0001877	Abnormal erythrocyte morphology	10312	TCIRG1	OMIM:259700
HP:0001877	Abnormal erythrocyte morphology	10312	TCIRG1	ORPHA:210110
HP:0001877	Abnormal erythrocyte morphology	1186	CLCN7	ORPHA:667
HP:0001877	Abnormal erythrocyte morphology	1186	CLCN7	OMIM:611490
HP:0001877	Abnormal erythrocyte morphology	1186	CLCN7	ORPHA:53
HP:0001877	Abnormal erythrocyte morphology	1186	CLCN7	ORPHA:210110
HP:0001877	Abnormal erythrocyte morphology	29887	SNX10	ORPHA:667
HP:0001877	Abnormal erythrocyte morphology	29887	SNX10	OMIM:615085
HP:0001877	Abnormal erythrocyte morphology	8600	TNFSF11	ORPHA:667
HP:0001877	Abnormal erythrocyte morphology	8600	TNFSF11	OMIM:259710
HP:0001877	Abnormal erythrocyte morphology	201294	UNC13D	ORPHA:540
HP:0001877	Abnormal erythrocyte morphology	201294	UNC13D	OMIM:608898
HP:0001877	Abnormal erythrocyte morphology	6813	STXBP2	ORPHA:540
HP:0001877	Abnormal erythrocyte morphology	6813	STXBP2	OMIM:613101
HP:0001877	Abnormal erythrocyte morphology	6888	TALDO1	ORPHA:101028
HP:0001877	Abnormal erythrocyte morphology	6888	TALDO1	OMIM:606003
HP:0001877	Abnormal erythrocyte morphology	7372	UMPS	ORPHA:30
HP:0001877	Abnormal erythrocyte morphology	58484	NLRC4	OMIM:616050
HP:0001877	Abnormal erythrocyte morphology	23395	LARS2	OMIM:617021
HP:0001877	Abnormal erythrocyte morphology	6729	SRP54	OMIM:260400
HP:0001877	Abnormal erythrocyte morphology	51119	SBDS	OMIM:260400
HP:0001877	Abnormal erythrocyte morphology	51119	SBDS	ORPHA:811
HP:0001877	Abnormal erythrocyte morphology	51119	SBDS	ORPHA:88
HP:0001877	Abnormal erythrocyte morphology	134218	DNAJC21	OMIM:260400
HP:0001877	Abnormal erythrocyte morphology	134218	DNAJC21	OMIM:617052
HP:0001877	Abnormal erythrocyte morphology	134218	DNAJC21	ORPHA:811
HP:0001877	Abnormal erythrocyte morphology	5568	PRKACG	OMIM:616176
HP:0001877	Abnormal erythrocyte morphology	55215	FANCI	OMIM:609053
HP:0001877	Abnormal erythrocyte morphology	55215	FANCI	ORPHA:84
HP:0001877	Abnormal erythrocyte morphology	23729	SHPK	ORPHA:440713
HP:0001877	Abnormal erythrocyte morphology	29927	SEC61A1	OMIM:620674
HP:0001877	Abnormal erythrocyte morphology	29927	SEC61A1	OMIM:620670
HP:0001877	Abnormal erythrocyte morphology	29927	SEC61A1	OMIM:617056
HP:0001877	Abnormal erythrocyte morphology	4952	OCRL	ORPHA:534
HP:0001877	Abnormal erythrocyte morphology	1281	COL3A1	OMIM:130050
HP:0001877	Abnormal erythrocyte morphology	427	ASAH1	ORPHA:333
HP:0001877	Abnormal erythrocyte morphology	114548	NLRP3	ORPHA:575
HP:0001877	Abnormal erythrocyte morphology	114548	NLRP3	OMIM:607115
HP:0001877	Abnormal erythrocyte morphology	114548	NLRP3	ORPHA:1451
HP:0001877	Abnormal erythrocyte morphology	3394	IRF8	OMIM:226990
HP:0001877	Abnormal erythrocyte morphology	10157	AASS	OMIM:238700
HP:0001877	Abnormal erythrocyte morphology	713	C1QB	OMIM:620321
HP:0001877	Abnormal erythrocyte morphology	2147	F2	ORPHA:325
HP:0001877	Abnormal erythrocyte morphology	2717	GLA	ORPHA:324
HP:0001877	Abnormal erythrocyte morphology	2717	GLA	OMIM:301500
HP:0001877	Abnormal erythrocyte morphology	5277	PIGA	ORPHA:447
HP:0001877	Abnormal erythrocyte morphology	212	ALAS2	ORPHA:75563
HP:0001877	Abnormal erythrocyte morphology	4547	MTTP	ORPHA:14
HP:0001877	Abnormal erythrocyte morphology	91039	DPP9	OMIM:620331
HP:0001877	Abnormal erythrocyte morphology	56244	BTNL2	ORPHA:797
HP:0001877	Abnormal erythrocyte morphology	4210	MEFV	OMIM:608068
HP:0001877	Abnormal erythrocyte morphology	4210	MEFV	ORPHA:3243
HP:0001877	Abnormal erythrocyte morphology	5660	PSAP	OMIM:610539
HP:0001877	Abnormal erythrocyte morphology	3251	HPRT1	ORPHA:510
HP:0001877	Abnormal erythrocyte morphology	23322	RPGRIP1L	OMIM:619113
HP:0001877	Abnormal erythrocyte morphology	54809	SAMD9	OMIM:617053
HP:0001877	Abnormal erythrocyte morphology	54809	SAMD9	OMIM:619041
HP:0001877	Abnormal erythrocyte morphology	83706	FERMT3	OMIM:612840
HP:0001877	Abnormal erythrocyte morphology	55636	CHD7	ORPHA:39041
HP:0001877	Abnormal erythrocyte morphology	100	ADA	ORPHA:39041
HP:0001877	Abnormal erythrocyte morphology	3575	IL7R	ORPHA:39041
HP:0001877	Abnormal erythrocyte morphology	3561	IL2RG	ORPHA:39041
HP:0001877	Abnormal erythrocyte morphology	2132	EXT2	ORPHA:52022
HP:0001877	Abnormal erythrocyte morphology	60529	ALX4	ORPHA:52022
HP:0001877	Abnormal erythrocyte morphology	51317	PHF21A	ORPHA:52022
HP:0001877	Abnormal erythrocyte morphology	84868	HAVCR2	OMIM:618398
HP:0001877	Abnormal erythrocyte morphology	100147744	RNU7-1	OMIM:619487
HP:0001877	Abnormal erythrocyte morphology	374879	ZNF699	OMIM:619488
HP:0001877	Abnormal erythrocyte morphology	6786	STIM1	OMIM:185070
HP:0001877	Abnormal erythrocyte morphology	6786	STIM1	ORPHA:3204
HP:0001877	Abnormal erythrocyte morphology	226	ALDOA	OMIM:611881
HP:0001877	Abnormal erythrocyte morphology	51473	DCDC2	ORPHA:84081
HP:0001877	Abnormal erythrocyte morphology	91147	TMEM67	ORPHA:84081
HP:0001877	Abnormal erythrocyte morphology	91147	TMEM67	OMIM:613550
HP:0001877	Abnormal erythrocyte morphology	54977	SLC25A38	OMIM:205950
HP:0001877	Abnormal erythrocyte morphology	498	ATP5F1A	OMIM:620358
HP:0001877	Abnormal erythrocyte morphology	284086	NEK8	OMIM:613824
HP:0001877	Abnormal erythrocyte morphology	3988	LIPA	ORPHA:75233
HP:0001877	Abnormal erythrocyte morphology	3988	LIPA	OMIM:278000
HP:0001877	Abnormal erythrocyte morphology	2658	GDF2	ORPHA:774
HP:0001877	Abnormal erythrocyte morphology	2177	FANCD2	OMIM:227646
HP:0001877	Abnormal erythrocyte morphology	2177	FANCD2	ORPHA:84
HP:0001877	Abnormal erythrocyte morphology	26137	ZBTB20	ORPHA:3042
HP:0001877	Abnormal erythrocyte morphology	55898	UNC45A	OMIM:619377
HP:0001877	Abnormal erythrocyte morphology	2176	FANCC	OMIM:227645
HP:0001877	Abnormal erythrocyte morphology	2176	FANCC	ORPHA:84
HP:0001877	Abnormal erythrocyte morphology	6389	SDHA	ORPHA:44890
HP:0001877	Abnormal erythrocyte morphology	6390	SDHB	ORPHA:44890
HP:0001877	Abnormal erythrocyte morphology	6391	SDHC	ORPHA:44890
HP:0001877	Abnormal erythrocyte morphology	5156	PDGFRA	ORPHA:44890
HP:0001877	Abnormal erythrocyte morphology	3815	KIT	ORPHA:44890
HP:0001877	Abnormal erythrocyte morphology	5339	PLEC	OMIM:226670
HP:0001877	Abnormal erythrocyte morphology	7157	TP53	OMIM:618165
HP:0001877	Abnormal erythrocyte morphology	84464	SLX4	OMIM:613951
HP:0001877	Abnormal erythrocyte morphology	84464	SLX4	ORPHA:84
HP:0001877	Abnormal erythrocyte morphology	5557	PRIM1	OMIM:620005
HP:0001877	Abnormal erythrocyte morphology	6522	SLC4A2	OMIM:620366
HP:0001877	Abnormal erythrocyte morphology	3593	IL12B	ORPHA:3287
HP:0001877	Abnormal erythrocyte morphology	6945	MLX	ORPHA:3287
HP:0001877	Abnormal erythrocyte morphology	92345	NAF1	OMIM:620365
HP:0001877	Abnormal erythrocyte morphology	7066	THPO	OMIM:620481
HP:0001877	Abnormal erythrocyte morphology	7066	THPO	ORPHA:3319
HP:0001877	Abnormal erythrocyte morphology	5965	RECQL	OMIM:620370
HP:0001877	Abnormal erythrocyte morphology	6850	SYK	OMIM:619381
HP:0001877	Abnormal erythrocyte morphology	4914	NTRK1	ORPHA:642
HP:0001877	Abnormal erythrocyte morphology	6774	STAT3	ORPHA:520
HP:0001877	Abnormal erythrocyte morphology	5371	PML	ORPHA:520
HP:0001877	Abnormal erythrocyte morphology	5914	RARA	ORPHA:520
HP:0001877	Abnormal erythrocyte morphology	359948	IRF2BP2	ORPHA:520
HP:0001877	Abnormal erythrocyte morphology	81608	FIP1L1	ORPHA:520
HP:0001877	Abnormal erythrocyte morphology	4869	NPM1	ORPHA:520
HP:0001877	Abnormal erythrocyte morphology	4869	NPM1	ORPHA:1775
HP:0001877	Abnormal erythrocyte morphology	5573	PRKAR1A	ORPHA:520
HP:0001877	Abnormal erythrocyte morphology	54880	BCOR	ORPHA:520
HP:0001877	Abnormal erythrocyte morphology	64859	NABP1	ORPHA:520
HP:0001877	Abnormal erythrocyte morphology	6777	STAT5B	ORPHA:520
HP:0001877	Abnormal erythrocyte morphology	4926	NUMA1	ORPHA:520
HP:0001877	Abnormal erythrocyte morphology	7704	ZBTB16	ORPHA:520
HP:0001877	Abnormal erythrocyte morphology	79718	TBL1XR1	ORPHA:520
HP:0001877	Abnormal erythrocyte morphology	1604	CD55	OMIM:226300
HP:0001877	Abnormal erythrocyte morphology	3735	KARS1	OMIM:619147
HP:0001877	Abnormal erythrocyte morphology	4713	NDUFB7	OMIM:620135
HP:0001877	Abnormal erythrocyte morphology	54938	SARS2	OMIM:613845
HP:0001877	Abnormal erythrocyte morphology	4067	LYN	OMIM:620376
HP:0001877	Abnormal erythrocyte morphology	4613	MYCN	ORPHA:635
HP:0001877	Abnormal erythrocyte morphology	238	ALK	ORPHA:635
HP:0001877	Abnormal erythrocyte morphology	389421	LIN28B	ORPHA:635
HP:0001877	Abnormal erythrocyte morphology	4004	LMO1	ORPHA:635
HP:0001877	Abnormal erythrocyte morphology	57531	HACE1	ORPHA:635
HP:0001877	Abnormal erythrocyte morphology	8929	PHOX2B	ORPHA:635
HP:0001877	Abnormal erythrocyte morphology	1534	CYB561	OMIM:618182
HP:0001877	Abnormal erythrocyte morphology	128	ADH5	OMIM:619151
HP:0001877	Abnormal erythrocyte morphology	171023	ASXL1	ORPHA:98850
HP:0001877	Abnormal erythrocyte morphology	54790	TET2	ORPHA:98850
HP:0001877	Abnormal erythrocyte morphology	54790	TET2	ORPHA:824
HP:0001877	Abnormal erythrocyte morphology	867	CBL	ORPHA:98850
HP:0001877	Abnormal erythrocyte morphology	861	RUNX1	ORPHA:98850
HP:0001877	Abnormal erythrocyte morphology	6427	SRSF2	ORPHA:98850
HP:0001877	Abnormal erythrocyte morphology	4570	MT-TN	OMIM:220110
HP:0001877	Abnormal erythrocyte morphology	6834	SURF1	OMIM:220110
HP:0001877	Abnormal erythrocyte morphology	27178	IL37	OMIM:619398
HP:0001877	Abnormal erythrocyte morphology	23241	PACS2	OMIM:618067
HP:0001877	Abnormal erythrocyte morphology	811	CALR	ORPHA:824
HP:0001877	Abnormal erythrocyte morphology	4352	MPL	ORPHA:824
HP:0001877	Abnormal erythrocyte morphology	4352	MPL	ORPHA:3319
HP:0001877	Abnormal erythrocyte morphology	10667	FARS2	OMIM:614946
HP:0001877	Abnormal erythrocyte morphology	2038	EPB42	ORPHA:822
HP:0001877	Abnormal erythrocyte morphology	286	ANK1	ORPHA:822
HP:0001877	Abnormal erythrocyte morphology	6775	STAT4	ORPHA:85408
HP:0001877	Abnormal erythrocyte morphology	3560	IL2RB	ORPHA:85408
HP:0001877	Abnormal erythrocyte morphology	79722	ANKRD55	ORPHA:85408
HP:0001877	Abnormal erythrocyte morphology	919	CD247	ORPHA:85408
HP:0001877	Abnormal erythrocyte morphology	3559	IL2RA	ORPHA:85408
HP:0001877	Abnormal erythrocyte morphology	5771	PTPN2	ORPHA:85408
HP:0001877	Abnormal erythrocyte morphology	7018	TF	ORPHA:1195
HP:0001877	Abnormal erythrocyte morphology	2130	EWSR1	ORPHA:83469
HP:0001877	Abnormal erythrocyte morphology	55788	LMBRD1	OMIM:277380
HP:0001877	Abnormal erythrocyte morphology	30061	SLC40A1	OMIM:606069
HP:0001877	Abnormal erythrocyte morphology	9382	COG1	OMIM:611209
HP:0001877	Abnormal erythrocyte morphology	79631	EFL1	ORPHA:811
HP:0001877	Abnormal erythrocyte morphology	7298	TYMS	OMIM:620040
HP:0001877	Abnormal erythrocyte morphology	7298	TYMS	ORPHA:1775
HP:0001877	Abnormal erythrocyte morphology	3458	IFNG	ORPHA:88
HP:0001877	Abnormal erythrocyte morphology	3458	IFNG	OMIM:618963
HP:0001877	Abnormal erythrocyte morphology	7012	TERC	ORPHA:88
HP:0001877	Abnormal erythrocyte morphology	7012	TERC	OMIM:127550
HP:0001877	Abnormal erythrocyte morphology	7012	TERC	ORPHA:1775
HP:0001877	Abnormal erythrocyte morphology	7015	TERT	ORPHA:88
HP:0001877	Abnormal erythrocyte morphology	7015	TERT	OMIM:614742
HP:0001877	Abnormal erythrocyte morphology	7015	TERT	ORPHA:3322
HP:0001877	Abnormal erythrocyte morphology	7015	TERT	OMIM:127550
HP:0001877	Abnormal erythrocyte morphology	7015	TERT	ORPHA:1775
HP:0001877	Abnormal erythrocyte morphology	56992	KIF15	ORPHA:261323
HP:0001877	Abnormal erythrocyte morphology	9630	GNA14	ORPHA:1063
HP:0001877	Abnormal erythrocyte morphology	26277	TINF2	OMIM:613990
HP:0001877	Abnormal erythrocyte morphology	26277	TINF2	ORPHA:3322
HP:0001877	Abnormal erythrocyte morphology	26277	TINF2	OMIM:127550
HP:0001877	Abnormal erythrocyte morphology	26277	TINF2	ORPHA:1775
HP:0001877	Abnormal erythrocyte morphology	7040	TGFB1	OMIM:131300
HP:0001877	Abnormal erythrocyte morphology	7040	TGFB1	ORPHA:1328
HP:0001877	Abnormal erythrocyte morphology	92579	G6PC3	OMIM:612541
HP:0001877	Abnormal erythrocyte morphology	340061	STING1	OMIM:615934
HP:0001877	Abnormal erythrocyte morphology	8792	TNFRSF11A	OMIM:612301
HP:0001877	Abnormal erythrocyte morphology	5777	PTPN6	ORPHA:3243
HP:0001877	Abnormal erythrocyte morphology	672	BRCA1	ORPHA:84
HP:0001877	Abnormal erythrocyte morphology	672	BRCA1	OMIM:617883
HP:0001877	Abnormal erythrocyte morphology	7516	XRCC2	ORPHA:84
HP:0001877	Abnormal erythrocyte morphology	29089	UBE2T	ORPHA:84
HP:0001877	Abnormal erythrocyte morphology	29089	UBE2T	OMIM:616435
HP:0001877	Abnormal erythrocyte morphology	2187	FANCB	ORPHA:84
HP:0001877	Abnormal erythrocyte morphology	2178	FANCE	ORPHA:84
HP:0001877	Abnormal erythrocyte morphology	2178	FANCE	OMIM:600901
HP:0001877	Abnormal erythrocyte morphology	5889	RAD51C	ORPHA:84
HP:0001877	Abnormal erythrocyte morphology	55159	RFWD3	ORPHA:84
HP:0001877	Abnormal erythrocyte morphology	83990	BRIP1	ORPHA:84
HP:0001877	Abnormal erythrocyte morphology	57697	FANCM	ORPHA:84
HP:0001877	Abnormal erythrocyte morphology	79728	PALB2	ORPHA:84
HP:0001877	Abnormal erythrocyte morphology	546	ATRX	ORPHA:847
HP:0001877	Abnormal erythrocyte morphology	5095	PCCA	OMIM:606054
HP:0001877	Abnormal erythrocyte morphology	5096	PCCB	OMIM:606054
HP:0001877	Abnormal erythrocyte morphology	6899	TBX1	OMIM:188400
HP:0001877	Abnormal erythrocyte morphology	29128	UHRF1	ORPHA:2268
HP:0001877	Abnormal erythrocyte morphology	3070	HELLS	ORPHA:2268
HP:0001877	Abnormal erythrocyte morphology	1789	DNMT3B	ORPHA:2268
HP:0001877	Abnormal erythrocyte morphology	83879	CDCA7	ORPHA:2268
HP:0001877	Abnormal erythrocyte morphology	9841	ZBTB24	ORPHA:2268
HP:0001877	Abnormal erythrocyte morphology	4598	MVK	OMIM:610377
HP:0001877	Abnormal erythrocyte morphology	4582	MUC1	OMIM:174000
HP:0001877	Abnormal erythrocyte morphology	5728	PTEN	ORPHA:79076
HP:0001877	Abnormal erythrocyte morphology	1991	ELANE	OMIM:202700
HP:0001877	Abnormal erythrocyte morphology	3055	HCK	OMIM:620296
HP:0001877	Abnormal erythrocyte morphology	1798	DPAGT1	ORPHA:86309
HP:0001877	Abnormal erythrocyte morphology	330	BIRC3	ORPHA:52417
HP:0001877	Abnormal erythrocyte morphology	10892	MALT1	ORPHA:52417
HP:0001877	Abnormal erythrocyte morphology	27086	FOXP1	ORPHA:52417
HP:0001877	Abnormal erythrocyte morphology	3492	IGH	ORPHA:52417
HP:0001877	Abnormal erythrocyte morphology	8915	BCL10	ORPHA:52417
HP:0001877	Abnormal erythrocyte morphology	10841	FTCD	ORPHA:51208
HP:0001877	Abnormal erythrocyte morphology	7454	WAS	ORPHA:906
HP:0001877	Abnormal erythrocyte morphology	7456	WIPF1	ORPHA:906
HP:0001877	Abnormal erythrocyte morphology	90624	LYRM7	OMIM:615838
HP:0001877	Abnormal erythrocyte morphology	10056	FARSB	OMIM:613658
HP:0001877	Abnormal erythrocyte morphology	493856	CISD2	ORPHA:3463
HP:0001877	Abnormal erythrocyte morphology	7466	WFS1	ORPHA:3463
HP:0001877	Abnormal erythrocyte morphology	375748	ERCC6L2	OMIM:615715
HP:0001877	Abnormal erythrocyte morphology	55719	SLF2	OMIM:620184
HP:0001877	Abnormal erythrocyte morphology	23137	SMC5	OMIM:620185
HP:0001877	Abnormal erythrocyte morphology	55027	HEATR3	OMIM:620072
HP:0001877	Abnormal erythrocyte morphology	7276	TTR	ORPHA:85451
HP:0001877	Abnormal erythrocyte morphology	5627	PROS1	OMIM:614514
HP:0001877	Abnormal erythrocyte morphology	64135	IFIH1	OMIM:615846
HP:0001877	Abnormal erythrocyte morphology	10165	SLC25A13	ORPHA:247598
HP:0001877	Abnormal erythrocyte morphology	866	SERPINA6	OMIM:611489
HP:0001877	Abnormal erythrocyte morphology	3662	IRF4	ORPHA:3452
HP:0001877	Abnormal erythrocyte morphology	6231	RPS26	OMIM:613309
HP:0001877	Abnormal erythrocyte morphology	6204	RPS10	OMIM:613308
HP:0001877	Abnormal erythrocyte morphology	760	CA2	OMIM:259730
HP:0001877	Abnormal erythrocyte morphology	760	CA2	ORPHA:2785
HP:0001877	Abnormal erythrocyte morphology	55343	SLC35C1	ORPHA:99843
HP:0001877	Abnormal erythrocyte morphology	6905	TBCE	OMIM:244460
HP:0001877	Abnormal erythrocyte morphology	57817	HAMP	OMIM:613313
HP:0001877	Abnormal erythrocyte morphology	63901	FAM111A	OMIM:127000
HP:0001877	Abnormal erythrocyte morphology	63901	FAM111A	ORPHA:93325
HP:0001877	Abnormal erythrocyte morphology	51750	RTEL1	ORPHA:3322
HP:0001877	Abnormal erythrocyte morphology	51750	RTEL1	ORPHA:1775
HP:0001877	Abnormal erythrocyte morphology	65057	ACD	ORPHA:3322
HP:0001877	Abnormal erythrocyte morphology	5073	PARN	ORPHA:3322
HP:0001877	Abnormal erythrocyte morphology	5073	PARN	ORPHA:1775
HP:0001877	Abnormal erythrocyte morphology	80324	PUS1	ORPHA:2598
HP:0001877	Abnormal erythrocyte morphology	51067	YARS2	ORPHA:2598
HP:0001877	Abnormal erythrocyte morphology	23479	ISCU	OMIM:255125
HP:0001877	Abnormal erythrocyte morphology	84876	ORAI1	ORPHA:3204
HP:0001877	Abnormal erythrocyte morphology	64241	ABCG8	OMIM:210250
HP:0001877	Abnormal erythrocyte morphology	28962	OSTM1	OMIM:259720
HP:0001877	Abnormal erythrocyte morphology	51095	TRNT1	OMIM:616959
HP:0001877	Abnormal erythrocyte morphology	1356	CP	OMIM:604290
HP:0001877	Abnormal erythrocyte morphology	84529	CDIN1	OMIM:615631
HP:0001877	Abnormal erythrocyte morphology	3932	LCK	OMIM:615758
HP:0001877	Abnormal erythrocyte morphology	6948	TCN2	OMIM:275350
HP:0001877	Abnormal erythrocyte morphology	2495	FTH1	OMIM:615517
HP:0001877	Abnormal erythrocyte morphology	50943	FOXP3	OMIM:304790
HP:0001877	Abnormal erythrocyte morphology	27034	ACAD8	OMIM:611283
HP:0001877	Abnormal erythrocyte morphology	3459	IFNGR1	OMIM:209950
HP:0001877	Abnormal erythrocyte morphology	23095	KIF1B	OMIM:256700
HP:0001877	Abnormal erythrocyte morphology	2122	MECOM	OMIM:616738
HP:0001877	Abnormal erythrocyte morphology	79840	NHEJ1	ORPHA:169079
HP:0001877	Abnormal erythrocyte morphology	10320	IKZF1	ORPHA:36426
HP:0001877	Abnormal erythrocyte morphology	27235	COQ2	OMIM:607426
HP:0001877	Abnormal erythrocyte morphology	7037	TFRC	OMIM:616740
HP:0001877	Abnormal erythrocyte morphology	51218	GLRX5	OMIM:616860
HP:0001877	Abnormal erythrocyte morphology	10616	RBCK1	OMIM:615895
HP:0001877	Abnormal erythrocyte morphology	5257	PHKB	ORPHA:79240
HP:0001877	Abnormal erythrocyte morphology	3431	SP110	ORPHA:79124
HP:0001877	Abnormal erythrocyte morphology	3248	HPGD	ORPHA:2796
HP:0001877	Abnormal erythrocyte morphology	6578	SLCO2A1	ORPHA:2796
HP:0001877	Abnormal erythrocyte morphology	197131	UBR1	ORPHA:2315
HP:0001877	Abnormal erythrocyte morphology	55163	PNPO	OMIM:610090
HP:0001877	Abnormal erythrocyte morphology	7067	THRA	OMIM:614450
HP:0001877	Abnormal erythrocyte morphology	4891	SLC11A2	OMIM:206100
HP:0001877	Abnormal erythrocyte morphology	9419	CRIPT	OMIM:615789
HP:0001877	Abnormal erythrocyte morphology	5498	PPOX	ORPHA:79473
HP:0001877	Abnormal erythrocyte morphology	326625	MMAB	OMIM:251110
HP:0001877	Abnormal erythrocyte morphology	3674	ITGA2B	OMIM:187800
HP:0001877	Abnormal erythrocyte morphology	2328	FMO3	OMIM:602079
HP:0001877	Abnormal erythrocyte morphology	3702	ITK	OMIM:613011
HP:0001877	Abnormal erythrocyte morphology	9401	RECQL4	ORPHA:221016
HP:0001877	Abnormal erythrocyte morphology	51520	LARS1	OMIM:615438
HP:0001877	Abnormal erythrocyte morphology	2065	ERBB3	OMIM:133180
HP:0001877	Abnormal erythrocyte morphology	7036	TFR2	OMIM:604250
HP:0001877	Abnormal erythrocyte morphology	189	AGXT	ORPHA:93598
HP:0001877	Abnormal erythrocyte morphology	81	ACTN4	OMIM:603278
HP:0001877	Abnormal erythrocyte morphology	55278	QRSL1	OMIM:618835
HP:0001877	Abnormal erythrocyte morphology	51816	ADA2	OMIM:615688
HP:0001877	Abnormal erythrocyte morphology	5188	GATB	OMIM:618838
HP:0001877	Abnormal erythrocyte morphology	283459	GATC	OMIM:618839
HP:0001877	Abnormal erythrocyte morphology	2623	GATA1	ORPHA:231393
HP:0001877	Abnormal erythrocyte morphology	7518	XRCC4	OMIM:616541
HP:0001877	Abnormal erythrocyte morphology	4194	MDM4	OMIM:618849
HP:0001877	Abnormal erythrocyte morphology	5116	PCNT	ORPHA:2637
HP:0001877	Abnormal erythrocyte morphology	6137	RPL13	OMIM:618728
HP:0001877	Abnormal erythrocyte morphology	9939	RBM8A	OMIM:274000
HP:0001877	Abnormal erythrocyte morphology	6609	SMPD1	OMIM:607616
HP:0001877	Abnormal erythrocyte morphology	80169	CTC1	OMIM:612199
HP:0001877	Abnormal erythrocyte morphology	80169	CTC1	ORPHA:1775
HP:0001877	Abnormal erythrocyte morphology	55651	NHP2	ORPHA:1775
HP:0001877	Abnormal erythrocyte morphology	79650	USB1	ORPHA:1775
HP:0001877	Abnormal erythrocyte morphology	55135	WRAP53	ORPHA:1775
HP:0001877	Abnormal erythrocyte morphology	55505	NOP10	ORPHA:1775
HP:0001877	Abnormal erythrocyte morphology	6794	STK11	ORPHA:2869
HP:0001877	Abnormal erythrocyte morphology	6155	RPL27	OMIM:617408
HP:0001877	Abnormal erythrocyte morphology	1371	CPOX	ORPHA:79273
HP:0001877	Abnormal erythrocyte morphology	6929	TCF3	OMIM:619824
HP:0001877	Abnormal erythrocyte morphology	3852	KRT5	ORPHA:79396
HP:0001877	Abnormal erythrocyte morphology	3861	KRT14	ORPHA:79396
HP:0001877	Abnormal erythrocyte morphology	6232	RPS27	OMIM:617409
HP:0001877	Abnormal erythrocyte morphology	64682	ANAPC1	ORPHA:221008
HP:0001877	Abnormal erythrocyte morphology	355	FAS	ORPHA:3261
HP:0001877	Abnormal erythrocyte morphology	356	FASLG	ORPHA:3261
HP:0001877	Abnormal erythrocyte morphology	843	CASP10	ORPHA:3261
HP:0001877	Abnormal erythrocyte morphology	10058	ABCB6	ORPHA:90044
HP:0001877	Abnormal erythrocyte morphology	53335	BCL11A	ORPHA:251380
HP:0001877	Abnormal erythrocyte morphology	3098	HK1	OMIM:235700
HP:0001877	Abnormal erythrocyte morphology	11093	ADAMTS13	OMIM:274150
HP:0001877	Abnormal erythrocyte morphology	2729	GCLC	ORPHA:33574
HP:0001877	Abnormal erythrocyte morphology	2729	GCLC	OMIM:230450
HP:0001877	Abnormal erythrocyte morphology	5230	PGK1	OMIM:300653
HP:0001877	Abnormal erythrocyte morphology	5230	PGK1	ORPHA:713
HP:0001877	Abnormal erythrocyte morphology	51251	NT5C3A	OMIM:266120
HP:0001877	Abnormal erythrocyte morphology	10878	CFHR3	OMIM:235400
HP:0001877	Abnormal erythrocyte morphology	3075	CFH	OMIM:235400
HP:0001877	Abnormal erythrocyte morphology	3078	CFHR1	OMIM:235400
HP:0001877	Abnormal erythrocyte morphology	10560	SLC19A2	OMIM:249270
HP:0001877	Abnormal erythrocyte morphology	126410	CYP4F22	OMIM:604777
HP:0001877	Abnormal erythrocyte morphology	7504	XK	OMIM:300842
HP:0001877	Abnormal erythrocyte morphology	338	APOB	OMIM:615558
HP:0001877	Abnormal erythrocyte morphology	51128	SAR1B	ORPHA:71
HP:0001877	Abnormal erythrocyte morphology	80025	PANK2	OMIM:234200
HP:0001877	Abnormal erythrocyte morphology	2821	GPI	OMIM:613470
HP:0001877	Abnormal erythrocyte morphology	1594	CYP27B1	ORPHA:289157
HP:0001877	Abnormal erythrocyte morphology	120227	CYP2R1	ORPHA:289157
HP:0001877	Abnormal erythrocyte morphology	3658	IREB2	OMIM:618451
HP:0001877	Abnormal erythrocyte morphology	10265	IRX5	OMIM:611174
HP:0001877	Abnormal erythrocyte morphology	63916	ELMO2	OMIM:606893
HP:0001877	Abnormal erythrocyte morphology	9051	PSTPIP1	OMIM:604416
HP:0001877	Abnormal erythrocyte morphology	2193	FARSA	OMIM:619013
HP:0001877	Abnormal erythrocyte morphology	3572	IL6ST	OMIM:619750
HP:0001877	Abnormal erythrocyte morphology	26007	TKFC	OMIM:618805
HP:0001877	Abnormal erythrocyte morphology	847	CAT	ORPHA:926
HP:0001877	Abnormal erythrocyte morphology	55109	AGGF1	ORPHA:90308
HP:0001877	Abnormal erythrocyte morphology	5290	PIK3CA	ORPHA:90308
HP:0001877	Abnormal erythrocyte morphology	29110	TBK1	OMIM:620880
HP:0001877	Abnormal erythrocyte morphology	79644	SRD5A3	ORPHA:324737
HP:0001877	Abnormal erythrocyte morphology	79644	SRD5A3	OMIM:612379
HP:0001877	Abnormal erythrocyte morphology	112812	FDX2	OMIM:251900
HP:0001877	Abnormal erythrocyte morphology	1468	SLC25A10	OMIM:618972
HP:0001877	Abnormal erythrocyte morphology	8737	RIPK1	OMIM:618852
HP:0001877	Abnormal erythrocyte morphology	8803	SUCLA2	OMIM:612073
HP:0001877	Abnormal erythrocyte morphology	7010	TEK	ORPHA:1059
HP:0001877	Abnormal erythrocyte morphology	55315	SLC29A3	ORPHA:168569
HP:0001877	Abnormal erythrocyte morphology	89874	SLC25A21	OMIM:618811
HP:0001877	Abnormal erythrocyte morphology	5696	PSMB8	OMIM:256040
HP:0001877	Abnormal erythrocyte morphology	2235	FECH	ORPHA:79278
HP:0001877	Abnormal erythrocyte morphology	6303	SAT1	ORPHA:93552
HP:0001877	Abnormal erythrocyte morphology	10059	DNM1L	ORPHA:98673
HP:0001877	Abnormal erythrocyte morphology	4976	OPA1	ORPHA:98673
HP:0001877	Abnormal erythrocyte morphology	119559	SFXN4	OMIM:615578
HP:0001877	Abnormal erythrocyte morphology	3117	HLA-DQA1	OMIM:212750
HP:0001877	Abnormal erythrocyte morphology	3119	HLA-DQB1	OMIM:212750
HP:0001877	Abnormal erythrocyte morphology	5700	PSMC1	OMIM:620071
HP:0001877	Abnormal erythrocyte morphology	7317	UBA1	OMIM:301054
HP:0001877	Abnormal erythrocyte morphology	1352	COX10	OMIM:619046
HP:0001877	Abnormal erythrocyte morphology	5880	RAC2	OMIM:608203
HP:0001877	Abnormal erythrocyte morphology	6573	SLC19A1	OMIM:601775
HP:0001877	Abnormal erythrocyte morphology	23630	KCNE5	ORPHA:86818
HP:0001877	Abnormal erythrocyte morphology	2182	ACSL4	ORPHA:86818
HP:0001877	Abnormal erythrocyte morphology	2811	GP1BA	OMIM:153670
HP:0001877	Abnormal erythrocyte morphology	64240	ABCG5	ORPHA:2882
HP:0001877	Abnormal erythrocyte morphology	374354	NHLRC2	OMIM:618278
HP:0001877	Abnormal erythrocyte morphology	146059	CDAN1	OMIM:224120
HP:0001877	Abnormal erythrocyte morphology	164656	TMPRSS6	OMIM:206200
HP:0001877	Abnormal erythrocyte morphology	8573	CASK	OMIM:300908
HP:0001877	Abnormal erythrocyte morphology	2539	G6PD	OMIM:300908
HP:0001877	Abnormal erythrocyte morphology	1861	TOR1A	OMIM:618947
HP:0001877	Abnormal erythrocyte morphology	7390	UROS	ORPHA:79277
HP:0001877	Abnormal erythrocyte morphology	6309	SC5D	ORPHA:46059
HP:0001877	Abnormal erythrocyte morphology	6309	SC5D	OMIM:607330
HP:0001877	Abnormal erythrocyte morphology	29775	CARD10	OMIM:619632
HP:0001877	Abnormal erythrocyte morphology	131118	DNAJC19	ORPHA:66634
HP:0001877	Abnormal erythrocyte morphology	205327	C2orf69	OMIM:619423
HP:0001877	Abnormal erythrocyte morphology	6901	TAFAZZIN	OMIM:302060
HP:0001877	Abnormal erythrocyte morphology	7293	TNFRSF4	OMIM:615593
HP:0001877	Abnormal erythrocyte morphology	8651	SOCS1	OMIM:619375
HP:0001877	Abnormal erythrocyte morphology	27040	LAT	OMIM:617514
HP:0001877	Abnormal erythrocyte morphology	8456	FOXN1	ORPHA:83471
HP:0001877	Abnormal erythrocyte morphology	51428	DDX41	OMIM:616871
HP:0001877	Abnormal erythrocyte morphology	26585	GREM1	ORPHA:157794
HP:0001877	Abnormal erythrocyte morphology	3978	LIG1	OMIM:619774
HP:0001877	Abnormal erythrocyte morphology	25913	POT1	OMIM:620367
HP:0001877	Abnormal erythrocyte morphology	27249	MMADHC	OMIM:277410
HP:0001877	Abnormal erythrocyte morphology	1719	DHFR	OMIM:613839
HP:0001877	Abnormal erythrocyte morphology	1854	DUT	OMIM:620044
HP:0001877	Abnormal erythrocyte morphology	29123	ANKRD11	ORPHA:261250
HP:0001877	Abnormal erythrocyte morphology	4552	MTRR	ORPHA:2169
HP:0001877	Abnormal erythrocyte morphology	9663	LPIN2	OMIM:609628
HP:0001877	Abnormal erythrocyte morphology	4522	MTHFD1	OMIM:617780
HP:0001877	Abnormal erythrocyte morphology	10483	SEC23B	OMIM:224100
HP:0001877	Abnormal erythrocyte morphology	6154	RPL26	OMIM:614900
HP:0001877	Abnormal erythrocyte morphology	84701	COX4I2	OMIM:612714
HP:0001877	Abnormal erythrocyte morphology	23451	SF3B1	ORPHA:75564
HP:0001877	Abnormal erythrocyte morphology	139818	DOCK11	OMIM:301109
HP:0001877	Abnormal erythrocyte morphology	6006	RHCE	OMIM:617970
HP:0001877	Abnormal erythrocyte morphology	6006	RHCE	ORPHA:71275
HP:0001877	Abnormal erythrocyte morphology	6005	RHAG	ORPHA:3203
HP:0001877	Abnormal erythrocyte morphology	6005	RHAG	ORPHA:71275
HP:0001877	Abnormal erythrocyte morphology	6007	RHD	ORPHA:71275
HP:0001877	Abnormal erythrocyte morphology	91647	ATPAF2	OMIM:604273
HP:0001877	Abnormal erythrocyte morphology	148867	SLC30A7	OMIM:620501
HP:0001877	Abnormal erythrocyte morphology	51341	ZBTB7A	OMIM:619769
HP:0001877	Abnormal erythrocyte morphology	3081	HGD	ORPHA:56
HP:0001877	Abnormal erythrocyte morphology	1528	CYB5A	ORPHA:621
HP:0001877	Abnormal erythrocyte morphology	1528	CYB5A	OMIM:250790
HP:0001877	Abnormal erythrocyte morphology	7389	UROD	ORPHA:95159
HP:0001877	Abnormal erythrocyte morphology	4860	PNP	OMIM:613179
HP:0001877	Abnormal erythrocyte morphology	1493	CTLA4	ORPHA:436159
HP:0001877	Abnormal erythrocyte morphology	8029	CUBN	ORPHA:35858
HP:0001877	Abnormal erythrocyte morphology	8567	MADD	OMIM:619004
HP:0001877	Abnormal erythrocyte morphology	8567	MADD	OMIM:619005
HP:0001877	Abnormal erythrocyte morphology	2876	GPX1	OMIM:614164
HP:0001877	Abnormal erythrocyte morphology	101101692	HELLPAR	ORPHA:244242
HP:0001877	Abnormal erythrocyte morphology	2592	GALT	ORPHA:79239
HP:0001877	Abnormal erythrocyte morphology	23230	VPS13A	ORPHA:2388
HP:0001877	Abnormal erythrocyte morphology	3795	KHK	ORPHA:2056
HP:0001877	Abnormal erythrocyte morphology	5631	PRPS1	ORPHA:1187
HP:0001877	Abnormal erythrocyte morphology	210	ALAD	ORPHA:100924
HP:0001877	Abnormal erythrocyte morphology	2694	CBLIF	OMIM:261000
HP:0001877	Abnormal erythrocyte morphology	8328	GFI1B	OMIM:187900
HP:0001877	Abnormal erythrocyte morphology	8772	FADD	OMIM:613759
HP:0001877	Abnormal erythrocyte morphology	3921	RPSA	OMIM:271400
HP:0001877	Abnormal erythrocyte morphology	6141	RPL18	OMIM:618310
HP:0001877	Abnormal erythrocyte morphology	3767	KCNJ11	ORPHA:552
HP:0001877	Abnormal erythrocyte morphology	3767	KCNJ11	OMIM:610582
HP:0001877	Abnormal erythrocyte morphology	3767	KCNJ11	OMIM:616329
HP:0001877	Abnormal erythrocyte morphology	3767	KCNJ11	ORPHA:79134
HP:0001877	Abnormal erythrocyte morphology	8462	KLF11	ORPHA:552
HP:0001877	Abnormal erythrocyte morphology	2645	GCK	ORPHA:552
HP:0001877	Abnormal erythrocyte morphology	2645	GCK	OMIM:606176
HP:0001877	Abnormal erythrocyte morphology	26060	APPL1	ORPHA:552
HP:0001877	Abnormal erythrocyte morphology	26060	APPL1	OMIM:616511
HP:0001877	Abnormal erythrocyte morphology	640	BLK	ORPHA:552
HP:0001877	Abnormal erythrocyte morphology	1056	CEL	ORPHA:552
HP:0001877	Abnormal erythrocyte morphology	1056	CEL	OMIM:609812
HP:0001877	Abnormal erythrocyte morphology	4760	NEUROD1	ORPHA:552
HP:0001877	Abnormal erythrocyte morphology	3651	PDX1	ORPHA:552
HP:0001877	Abnormal erythrocyte morphology	6833	ABCC8	ORPHA:552
HP:0001877	Abnormal erythrocyte morphology	6833	ABCC8	ORPHA:79134
HP:0001877	Abnormal erythrocyte morphology	5078	PAX4	ORPHA:552
HP:0001877	Abnormal erythrocyte morphology	5078	PAX4	OMIM:612225
HP:0001877	Abnormal erythrocyte morphology	3172	HNF4A	ORPHA:552
HP:0001877	Abnormal erythrocyte morphology	6927	HNF1A	ORPHA:552
HP:0001877	Abnormal erythrocyte morphology	3630	INS	ORPHA:552
HP:0001877	Abnormal erythrocyte morphology	3630	INS	OMIM:618858
HP:0001877	Abnormal erythrocyte morphology	5611	DNAJC3	OMIM:616192
HP:0001877	Abnormal erythrocyte morphology	6524	SLC5A2	ORPHA:69076
HP:0001877	Abnormal erythrocyte morphology	81555	YIPF5	OMIM:619278
HP:0001877	Abnormal erythrocyte morphology	286053	NSMCE2	OMIM:617253
HP:0001877	Abnormal erythrocyte morphology	63036	CELA2A	OMIM:618620
HP:0001877	Abnormal erythrocyte morphology	10651	MTX2	OMIM:619127
HP:0001877	Abnormal erythrocyte morphology	4000	LMNA	OMIM:151660
HP:0001877	Abnormal erythrocyte morphology	23312	DMXL2	OMIM:616113
HP:0001877	Abnormal erythrocyte morphology	26580	BSCL2	OMIM:269700
HP:0001877	Abnormal erythrocyte morphology	641	BLM	OMIM:210900
HP:0001877	Abnormal erythrocyte morphology	57570	TRMT5	OMIM:616539
HP:0001877	Abnormal erythrocyte morphology	7486	WRN	OMIM:277700
HP:0001877	Abnormal erythrocyte morphology	7840	ALMS1	OMIM:203800
HP:0001877	Abnormal erythrocyte morphology	11145	PLAAT3	OMIM:620683
HP:0001877	Abnormal erythrocyte morphology	79731	NARS2	ORPHA:79134
HP:0001877	Abnormal erythrocyte morphology	383	ARG1	OMIM:207800
HP:0001877	Abnormal erythrocyte morphology	3704	ITPA	OMIM:613850
HP:0001877	Abnormal erythrocyte morphology	2936	GSR	OMIM:618660
HP:0001877	Abnormal erythrocyte morphology	203	AK1	OMIM:612631
HP:0001877	Abnormal erythrocyte morphology	2584	GALK1	OMIM:230200
HP:0001877	Abnormal erythrocyte morphology	471	ATIC	OMIM:608688
HP:0010974	Abnormal myeloid leukocyte morphology	6901	TAFAZZIN	ORPHA:111
HP:0010974	Abnormal myeloid leukocyte morphology	3981	LIG4	ORPHA:235
HP:0010974	Abnormal myeloid leukocyte morphology	54888	NSUN2	ORPHA:235
HP:0010974	Abnormal myeloid leukocyte morphology	4615	MYD88	ORPHA:33226
HP:0010974	Abnormal myeloid leukocyte morphology	3106	HLA-B	ORPHA:36426
HP:0010974	Abnormal myeloid leukocyte morphology	10320	IKZF1	ORPHA:36426
HP:0010974	Abnormal myeloid leukocyte morphology	80169	CTC1	ORPHA:1775
HP:0010974	Abnormal myeloid leukocyte morphology	26277	TINF2	ORPHA:1775
HP:0010974	Abnormal myeloid leukocyte morphology	55651	NHP2	ORPHA:1775
HP:0010974	Abnormal myeloid leukocyte morphology	79650	USB1	ORPHA:1775
HP:0010974	Abnormal myeloid leukocyte morphology	55135	WRAP53	ORPHA:1775
HP:0010974	Abnormal myeloid leukocyte morphology	51750	RTEL1	ORPHA:1775
HP:0010974	Abnormal myeloid leukocyte morphology	4869	NPM1	ORPHA:1775
HP:0010974	Abnormal myeloid leukocyte morphology	7012	TERC	ORPHA:1775
HP:0010974	Abnormal myeloid leukocyte morphology	55505	NOP10	ORPHA:1775
HP:0010974	Abnormal myeloid leukocyte morphology	5073	PARN	ORPHA:1775
HP:0010974	Abnormal myeloid leukocyte morphology	7015	TERT	ORPHA:1775
HP:0010974	Abnormal myeloid leukocyte morphology	1736	DKC1	ORPHA:1775
HP:0010974	Abnormal myeloid leukocyte morphology	7298	TYMS	ORPHA:1775
HP:0010974	Abnormal myeloid leukocyte morphology	29128	UHRF1	ORPHA:2268
HP:0010974	Abnormal myeloid leukocyte morphology	3070	HELLS	ORPHA:2268
HP:0010974	Abnormal myeloid leukocyte morphology	1789	DNMT3B	ORPHA:2268
HP:0010974	Abnormal myeloid leukocyte morphology	83879	CDCA7	ORPHA:2268
HP:0010974	Abnormal myeloid leukocyte morphology	9841	ZBTB24	ORPHA:2268
HP:0010974	Abnormal myeloid leukocyte morphology	3930	LBR	OMIM:169400
HP:0010974	Abnormal myeloid leukocyte morphology	204	AK2	ORPHA:33355
HP:0010974	Abnormal myeloid leukocyte morphology	1536	CYBB	ORPHA:379
HP:0010974	Abnormal myeloid leukocyte morphology	4688	NCF2	ORPHA:379
HP:0010974	Abnormal myeloid leukocyte morphology	1535	CYBA	ORPHA:379
HP:0010974	Abnormal myeloid leukocyte morphology	4689	NCF4	ORPHA:379
HP:0010974	Abnormal myeloid leukocyte morphology	653361	NCF1	ORPHA:379
HP:0010974	Abnormal myeloid leukocyte morphology	79415	CYBC1	ORPHA:379
HP:0010974	Abnormal myeloid leukocyte morphology	4594	MMUT	ORPHA:289916
HP:0010974	Abnormal myeloid leukocyte morphology	4594	MMUT	OMIM:251000
HP:0010974	Abnormal myeloid leukocyte morphology	4594	MMUT	ORPHA:79312
HP:0010974	Abnormal myeloid leukocyte morphology	695	BTK	OMIM:300755
HP:0010974	Abnormal myeloid leukocyte morphology	695	BTK	ORPHA:47
HP:0010974	Abnormal myeloid leukocyte morphology	26235	FBXL4	OMIM:615471
HP:0010974	Abnormal myeloid leukocyte morphology	1729	DIAPH1	ORPHA:494444
HP:0010974	Abnormal myeloid leukocyte morphology	54892	NCAPG2	OMIM:618460
HP:0010974	Abnormal myeloid leukocyte morphology	1441	CSF3R	OMIM:617014
HP:0010974	Abnormal myeloid leukocyte morphology	23241	PACS2	OMIM:618067
HP:0010974	Abnormal myeloid leukocyte morphology	5994	RFXAP	OMIM:620817
HP:0010974	Abnormal myeloid leukocyte morphology	5994	RFXAP	ORPHA:572
HP:0010974	Abnormal myeloid leukocyte morphology	23308	ICOSLG	OMIM:620825
HP:0010974	Abnormal myeloid leukocyte morphology	5238	PGM3	ORPHA:443811
HP:0010974	Abnormal myeloid leukocyte morphology	5238	PGM3	OMIM:615816
HP:0010974	Abnormal myeloid leukocyte morphology	6948	TCN2	OMIM:275350
HP:0010974	Abnormal myeloid leukocyte morphology	6948	TCN2	ORPHA:859
HP:0010974	Abnormal myeloid leukocyte morphology	50943	FOXP3	OMIM:304790
HP:0010974	Abnormal myeloid leukocyte morphology	50943	FOXP3	ORPHA:37042
HP:0010974	Abnormal myeloid leukocyte morphology	6218	RPS17	OMIM:612527
HP:0010974	Abnormal myeloid leukocyte morphology	6218	RPS17	ORPHA:124
HP:0010974	Abnormal myeloid leukocyte morphology	959	CD40LG	OMIM:308230
HP:0010974	Abnormal myeloid leukocyte morphology	10559	SLC35A1	ORPHA:238459
HP:0010974	Abnormal myeloid leukocyte morphology	10559	SLC35A1	OMIM:603585
HP:0010974	Abnormal myeloid leukocyte morphology	54809	SAMD9	OMIM:619041
HP:0010974	Abnormal myeloid leukocyte morphology	114803	MYSM1	ORPHA:508542
HP:0010974	Abnormal myeloid leukocyte morphology	6729	SRP54	OMIM:618752
HP:0010974	Abnormal myeloid leukocyte morphology	6729	SRP54	OMIM:260400
HP:0010974	Abnormal myeloid leukocyte morphology	9948	WDR1	OMIM:150550
HP:0010974	Abnormal myeloid leukocyte morphology	51119	SBDS	OMIM:260400
HP:0010974	Abnormal myeloid leukocyte morphology	51119	SBDS	ORPHA:811
HP:0010974	Abnormal myeloid leukocyte morphology	51119	SBDS	ORPHA:88
HP:0010974	Abnormal myeloid leukocyte morphology	134218	DNAJC21	OMIM:260400
HP:0010974	Abnormal myeloid leukocyte morphology	134218	DNAJC21	ORPHA:811
HP:0010974	Abnormal myeloid leukocyte morphology	134218	DNAJC21	OMIM:617052
HP:0010974	Abnormal myeloid leukocyte morphology	2175	FANCA	OMIM:227650
HP:0010974	Abnormal myeloid leukocyte morphology	2120	ETV6	OMIM:616216
HP:0010974	Abnormal myeloid leukocyte morphology	55215	FANCI	OMIM:609053
HP:0010974	Abnormal myeloid leukocyte morphology	79631	EFL1	OMIM:617941
HP:0010974	Abnormal myeloid leukocyte morphology	79631	EFL1	ORPHA:811
HP:0010974	Abnormal myeloid leukocyte morphology	4552	MTRR	ORPHA:2169
HP:0010974	Abnormal myeloid leukocyte morphology	65082	VPS33A	OMIM:617303
HP:0010974	Abnormal myeloid leukocyte morphology	55788	LMBRD1	OMIM:277380
HP:0010974	Abnormal myeloid leukocyte morphology	55788	LMBRD1	ORPHA:79284
HP:0010974	Abnormal myeloid leukocyte morphology	973	CD79A	OMIM:613501
HP:0010974	Abnormal myeloid leukocyte morphology	973	CD79A	ORPHA:33110
HP:0010974	Abnormal myeloid leukocyte morphology	29760	BLNK	OMIM:613502
HP:0010974	Abnormal myeloid leukocyte morphology	29760	BLNK	ORPHA:33110
HP:0010974	Abnormal myeloid leukocyte morphology	9837	GINS1	OMIM:617827
HP:0010974	Abnormal myeloid leukocyte morphology	2122	MECOM	OMIM:616738
HP:0010974	Abnormal myeloid leukocyte morphology	8029	CUBN	ORPHA:35858
HP:0010974	Abnormal myeloid leukocyte morphology	81693	AMN	ORPHA:35858
HP:0010974	Abnormal myeloid leukocyte morphology	4261	CIITA	ORPHA:572
HP:0010974	Abnormal myeloid leukocyte morphology	4261	CIITA	OMIM:209920
HP:0010974	Abnormal myeloid leukocyte morphology	5993	RFX5	ORPHA:572
HP:0010974	Abnormal myeloid leukocyte morphology	8625	RFXANK	ORPHA:572
HP:0010974	Abnormal myeloid leukocyte morphology	54	ACP5	OMIM:607944
HP:0010974	Abnormal myeloid leukocyte morphology	6023	RMRP	ORPHA:175
HP:0010974	Abnormal myeloid leukocyte morphology	6023	RMRP	OMIM:250250
HP:0010974	Abnormal myeloid leukocyte morphology	2530	FUT8	OMIM:618005
HP:0010974	Abnormal myeloid leukocyte morphology	7037	TFRC	OMIM:616740
HP:0010974	Abnormal myeloid leukocyte morphology	816	CAMK2B	OMIM:617799
HP:0010974	Abnormal myeloid leukocyte morphology	6775	STAT4	OMIM:620443
HP:0010974	Abnormal myeloid leukocyte morphology	28956	LAMTOR2	ORPHA:90023
HP:0010974	Abnormal myeloid leukocyte morphology	28956	LAMTOR2	OMIM:610798
HP:0010974	Abnormal myeloid leukocyte morphology	8546	AP3B1	OMIM:608233
HP:0010974	Abnormal myeloid leukocyte morphology	157680	VPS13B	OMIM:216550
HP:0010974	Abnormal myeloid leukocyte morphology	157680	VPS13B	ORPHA:193
HP:0010974	Abnormal myeloid leukocyte morphology	5095	PCCA	OMIM:606054
HP:0010974	Abnormal myeloid leukocyte morphology	5096	PCCB	OMIM:606054
HP:0010974	Abnormal myeloid leukocyte morphology	112812	FDX2	OMIM:251900
HP:0010974	Abnormal myeloid leukocyte morphology	958	CD40	OMIM:606843
HP:0010974	Abnormal myeloid leukocyte morphology	2178	FANCE	OMIM:600901
HP:0010974	Abnormal myeloid leukocyte morphology	4478	MSN	OMIM:300988
HP:0010974	Abnormal myeloid leukocyte morphology	546	ATRX	ORPHA:231401
HP:0010974	Abnormal myeloid leukocyte morphology	28755	TRAC	OMIM:615387
HP:0010974	Abnormal myeloid leukocyte morphology	4700	NDUFA6	OMIM:618253
HP:0010974	Abnormal myeloid leukocyte morphology	175	AGA	OMIM:208400
HP:0010974	Abnormal myeloid leukocyte morphology	113235	SLC46A1	OMIM:229050
HP:0010974	Abnormal myeloid leukocyte morphology	5826	ABCD4	OMIM:614857
HP:0010974	Abnormal myeloid leukocyte morphology	4548	MTR	OMIM:250940
HP:0010974	Abnormal myeloid leukocyte morphology	326625	MMAB	OMIM:251110
HP:0010974	Abnormal myeloid leukocyte morphology	2328	FMO3	OMIM:602079
HP:0010974	Abnormal myeloid leukocyte morphology	9997	SCO2	OMIM:604377
HP:0010974	Abnormal myeloid leukocyte morphology	8943	AP3D1	OMIM:617050
HP:0010974	Abnormal myeloid leukocyte morphology	3572	IL6ST	OMIM:619752
HP:0010974	Abnormal myeloid leukocyte morphology	2623	GATA1	OMIM:300835
HP:0010974	Abnormal myeloid leukocyte morphology	2623	GATA1	ORPHA:124
HP:0010974	Abnormal myeloid leukocyte morphology	6135	RPL11	OMIM:612562
HP:0010974	Abnormal myeloid leukocyte morphology	6135	RPL11	ORPHA:124
HP:0010974	Abnormal myeloid leukocyte morphology	9401	RECQL4	ORPHA:221016
HP:0010974	Abnormal myeloid leukocyte morphology	6201	RPS7	OMIM:612563
HP:0010974	Abnormal myeloid leukocyte morphology	6201	RPS7	ORPHA:124
HP:0010974	Abnormal myeloid leukocyte morphology	6154	RPL26	OMIM:614900
HP:0010974	Abnormal myeloid leukocyte morphology	6154	RPL26	ORPHA:124
HP:0010974	Abnormal myeloid leukocyte morphology	148867	SLC30A7	OMIM:620501
HP:0010974	Abnormal myeloid leukocyte morphology	8517	IKBKG	OMIM:301081
HP:0010974	Abnormal myeloid leukocyte morphology	6789	STK4	OMIM:614868
HP:0010974	Abnormal myeloid leukocyte morphology	51135	IRAK4	ORPHA:70592
HP:0010974	Abnormal myeloid leukocyte morphology	4796	TONSL	ORPHA:93357
HP:0010974	Abnormal myeloid leukocyte morphology	4796	TONSL	OMIM:271510
HP:0010974	Abnormal myeloid leukocyte morphology	7036	TFR2	OMIM:604250
HP:0010974	Abnormal myeloid leukocyte morphology	166785	MMAA	OMIM:251100
HP:0010974	Abnormal myeloid leukocyte morphology	3507	IGHM	OMIM:601495
HP:0010974	Abnormal myeloid leukocyte morphology	3507	IGHM	ORPHA:33110
HP:0010974	Abnormal myeloid leukocyte morphology	25839	COG4	OMIM:618150
HP:0010974	Abnormal myeloid leukocyte morphology	3575	IL7R	ORPHA:169154
HP:0010974	Abnormal myeloid leukocyte morphology	6141	RPL18	OMIM:618310
HP:0010974	Abnormal myeloid leukocyte morphology	6141	RPL18	ORPHA:124
HP:0010974	Abnormal myeloid leukocyte morphology	150274	HSCB	OMIM:619523
HP:0010974	Abnormal myeloid leukocyte morphology	11311	VPS45	OMIM:615285
HP:0010974	Abnormal myeloid leukocyte morphology	50485	SMARCAL1	ORPHA:1830
HP:0010974	Abnormal myeloid leukocyte morphology	50485	SMARCAL1	OMIM:242900
HP:0010974	Abnormal myeloid leukocyte morphology	57724	EPG5	OMIM:242840
HP:0010974	Abnormal myeloid leukocyte morphology	2937	GSS	OMIM:266130
HP:0010974	Abnormal myeloid leukocyte morphology	2177	FANCD2	OMIM:227646
HP:0010974	Abnormal myeloid leukocyte morphology	2176	FANCC	OMIM:227645
HP:0010974	Abnormal myeloid leukocyte morphology	2189	FANCG	OMIM:614082
HP:0010974	Abnormal myeloid leukocyte morphology	6603	SMARCD2	OMIM:617475
HP:0010974	Abnormal myeloid leukocyte morphology	84522	JAGN1	OMIM:616022
HP:0010974	Abnormal myeloid leukocyte morphology	5295	PIK3R1	OMIM:615214
HP:0010974	Abnormal myeloid leukocyte morphology	5295	PIK3R1	ORPHA:33110
HP:0010974	Abnormal myeloid leukocyte morphology	4194	MDM4	OMIM:618849
HP:0010974	Abnormal myeloid leukocyte morphology	25974	MMACHC	ORPHA:79282
HP:0010974	Abnormal myeloid leukocyte morphology	25974	MMACHC	OMIM:277400
HP:0010974	Abnormal myeloid leukocyte morphology	51567	TDP2	OMIM:616949
HP:0010974	Abnormal myeloid leukocyte morphology	404672	GTF2H5	ORPHA:33364
HP:0010974	Abnormal myeloid leukocyte morphology	404672	GTF2H5	OMIM:616395
HP:0010974	Abnormal myeloid leukocyte morphology	833	CARS1	ORPHA:33364
HP:0010974	Abnormal myeloid leukocyte morphology	2068	ERCC2	ORPHA:33364
HP:0010974	Abnormal myeloid leukocyte morphology	7737	RNF113A	ORPHA:33364
HP:0010974	Abnormal myeloid leukocyte morphology	136647	MPLKIP	ORPHA:33364
HP:0010974	Abnormal myeloid leukocyte morphology	6897	TARS1	ORPHA:33364
HP:0010974	Abnormal myeloid leukocyte morphology	16	AARS1	ORPHA:33364
HP:0010974	Abnormal myeloid leukocyte morphology	2071	ERCC3	ORPHA:33364
HP:0010974	Abnormal myeloid leukocyte morphology	2961	GTF2E2	ORPHA:33364
HP:0010974	Abnormal myeloid leukocyte morphology	9451	EIF2AK3	ORPHA:1667
HP:0010974	Abnormal myeloid leukocyte morphology	6223	RPS19	OMIM:105650
HP:0010974	Abnormal myeloid leukocyte morphology	6223	RPS19	ORPHA:124
HP:0010974	Abnormal myeloid leukocyte morphology	7066	THPO	OMIM:620481
HP:0010974	Abnormal myeloid leukocyte morphology	6138	RPL15	ORPHA:124
HP:0010974	Abnormal myeloid leukocyte morphology	6224	RPS20	ORPHA:124
HP:0010974	Abnormal myeloid leukocyte morphology	6165	RPL35A	ORPHA:124
HP:0010974	Abnormal myeloid leukocyte morphology	6132	RPL8	ORPHA:124
HP:0010974	Abnormal myeloid leukocyte morphology	6232	RPS27	ORPHA:124
HP:0010974	Abnormal myeloid leukocyte morphology	55027	HEATR3	ORPHA:124
HP:0010974	Abnormal myeloid leukocyte morphology	6160	RPL31	ORPHA:124
HP:0010974	Abnormal myeloid leukocyte morphology	6155	RPL27	ORPHA:124
HP:0010974	Abnormal myeloid leukocyte morphology	6229	RPS24	ORPHA:124
HP:0010974	Abnormal myeloid leukocyte morphology	6125	RPL5	ORPHA:124
HP:0010974	Abnormal myeloid leukocyte morphology	6204	RPS10	ORPHA:124
HP:0010974	Abnormal myeloid leukocyte morphology	6133	RPL9	ORPHA:124
HP:0010974	Abnormal myeloid leukocyte morphology	6231	RPS26	ORPHA:124
HP:0010974	Abnormal myeloid leukocyte morphology	11224	RPL35	ORPHA:124
HP:0010974	Abnormal myeloid leukocyte morphology	6210	RPS15A	ORPHA:124
HP:0010974	Abnormal myeloid leukocyte morphology	90121	TSR2	ORPHA:124
HP:0010974	Abnormal myeloid leukocyte morphology	6235	RPS29	ORPHA:124
HP:0010974	Abnormal myeloid leukocyte morphology	51816	ADA2	ORPHA:124
HP:0010974	Abnormal myeloid leukocyte morphology	6774	STAT3	ORPHA:520
HP:0010974	Abnormal myeloid leukocyte morphology	5371	PML	ORPHA:520
HP:0010974	Abnormal myeloid leukocyte morphology	5914	RARA	ORPHA:520
HP:0010974	Abnormal myeloid leukocyte morphology	359948	IRF2BP2	ORPHA:520
HP:0010974	Abnormal myeloid leukocyte morphology	81608	FIP1L1	ORPHA:520
HP:0010974	Abnormal myeloid leukocyte morphology	5573	PRKAR1A	ORPHA:520
HP:0010974	Abnormal myeloid leukocyte morphology	54880	BCOR	ORPHA:520
HP:0010974	Abnormal myeloid leukocyte morphology	64859	NABP1	ORPHA:520
HP:0010974	Abnormal myeloid leukocyte morphology	6777	STAT5B	ORPHA:520
HP:0010974	Abnormal myeloid leukocyte morphology	4926	NUMA1	ORPHA:520
HP:0010974	Abnormal myeloid leukocyte morphology	7704	ZBTB16	ORPHA:520
HP:0010974	Abnormal myeloid leukocyte morphology	79718	TBL1XR1	ORPHA:520
HP:0010974	Abnormal myeloid leukocyte morphology	29071	C1GALT1C1	OMIM:301110
HP:0010974	Abnormal myeloid leukocyte morphology	10459	MAD2L2	OMIM:617243
HP:0010974	Abnormal myeloid leukocyte morphology	96459	FNIP1	OMIM:619705
HP:0010974	Abnormal myeloid leukocyte morphology	27429	HTRA2	OMIM:617248
HP:0010974	Abnormal myeloid leukocyte morphology	7319	UBE2A	ORPHA:163956
HP:0010974	Abnormal myeloid leukocyte morphology	2582	GALE	OMIM:620776
HP:0010974	Abnormal myeloid leukocyte morphology	55294	FBXW7	OMIM:620012
HP:0010974	Abnormal myeloid leukocyte morphology	78987	CRELD1	OMIM:620771
HP:0010974	Abnormal myeloid leukocyte morphology	5052	PRDX1	OMIM:277400
HP:0010974	Abnormal myeloid leukocyte morphology	10456	HAX1	OMIM:610738
HP:0010974	Abnormal myeloid leukocyte morphology	6929	TCF3	ORPHA:33110
HP:0010974	Abnormal myeloid leukocyte morphology	7922	SLC39A7	ORPHA:33110
HP:0010974	Abnormal myeloid leukocyte morphology	974	CD79B	ORPHA:33110
HP:0010974	Abnormal myeloid leukocyte morphology	6688	SPI1	ORPHA:33110
HP:0010974	Abnormal myeloid leukocyte morphology	3543	IGLL1	ORPHA:33110
HP:0010974	Abnormal myeloid leukocyte morphology	56262	LRRC8A	ORPHA:33110
HP:0010974	Abnormal myeloid leukocyte morphology	64682	ANAPC1	ORPHA:221008
HP:0010974	Abnormal myeloid leukocyte morphology	7454	WAS	ORPHA:906
HP:0010974	Abnormal myeloid leukocyte morphology	7456	WIPF1	ORPHA:906
HP:0010974	Abnormal myeloid leukocyte morphology	2859	GPR35	ORPHA:171
HP:0010974	Abnormal myeloid leukocyte morphology	10507	SEMA4D	ORPHA:171
HP:0010974	Abnormal myeloid leukocyte morphology	4485	MST1	ORPHA:171
HP:0010974	Abnormal myeloid leukocyte morphology	6925	TCF4	ORPHA:171
HP:0010974	Abnormal myeloid leukocyte morphology	355	FAS	ORPHA:3261
HP:0010974	Abnormal myeloid leukocyte morphology	355	FAS	OMIM:601859
HP:0010974	Abnormal myeloid leukocyte morphology	356	FASLG	ORPHA:3261
HP:0010974	Abnormal myeloid leukocyte morphology	356	FASLG	OMIM:601859
HP:0010974	Abnormal myeloid leukocyte morphology	843	CASP10	ORPHA:3261
HP:0010974	Abnormal myeloid leukocyte morphology	843	CASP10	OMIM:603909
HP:0010974	Abnormal myeloid leukocyte morphology	30009	TBX21	OMIM:619630
HP:0010974	Abnormal myeloid leukocyte morphology	5159	PDGFRB	OMIM:131440
HP:0010974	Abnormal myeloid leukocyte morphology	100151683	RNU4ATAC	ORPHA:353298
HP:0010974	Abnormal myeloid leukocyte morphology	100151683	RNU4ATAC	OMIM:616651
HP:0010974	Abnormal myeloid leukocyte morphology	5156	PDGFRA	OMIM:607685
HP:0010974	Abnormal myeloid leukocyte morphology	55636	CHD7	ORPHA:39041
HP:0010974	Abnormal myeloid leukocyte morphology	5896	RAG1	ORPHA:39041
HP:0010974	Abnormal myeloid leukocyte morphology	5896	RAG1	OMIM:603554
HP:0010974	Abnormal myeloid leukocyte morphology	5896	RAG1	ORPHA:331206
HP:0010974	Abnormal myeloid leukocyte morphology	5897	RAG2	ORPHA:39041
HP:0010974	Abnormal myeloid leukocyte morphology	5897	RAG2	OMIM:603554
HP:0010974	Abnormal myeloid leukocyte morphology	5897	RAG2	ORPHA:331206
HP:0010974	Abnormal myeloid leukocyte morphology	64421	DCLRE1C	ORPHA:39041
HP:0010974	Abnormal myeloid leukocyte morphology	64421	DCLRE1C	OMIM:603554
HP:0010974	Abnormal myeloid leukocyte morphology	64421	DCLRE1C	OMIM:602450
HP:0010974	Abnormal myeloid leukocyte morphology	100	ADA	ORPHA:39041
HP:0010974	Abnormal myeloid leukocyte morphology	100	ADA	OMIM:102700
HP:0010974	Abnormal myeloid leukocyte morphology	3561	IL2RG	ORPHA:39041
HP:0010974	Abnormal myeloid leukocyte morphology	825	CAPN3	OMIM:253600
HP:0010974	Abnormal myeloid leukocyte morphology	1041	CDSN	OMIM:270300
HP:0010974	Abnormal myeloid leukocyte morphology	6720	SREBF1	OMIM:158310
HP:0010974	Abnormal myeloid leukocyte morphology	2137	EXTL3	OMIM:617425
HP:0010974	Abnormal myeloid leukocyte morphology	3716	JAK1	OMIM:618999
HP:0010974	Abnormal myeloid leukocyte morphology	84905	ZNF341	OMIM:618282
HP:0010974	Abnormal myeloid leukocyte morphology	915	CD3D	ORPHA:169160
HP:0010974	Abnormal myeloid leukocyte morphology	916	CD3E	ORPHA:169160
HP:0010974	Abnormal myeloid leukocyte morphology	919	CD247	ORPHA:169160
HP:0010974	Abnormal myeloid leukocyte morphology	919	CD247	OMIM:610163
HP:0010974	Abnormal myeloid leukocyte morphology	10999	SLC27A4	ORPHA:88621
HP:0010974	Abnormal myeloid leukocyte morphology	64919	BCL11B	OMIM:617237
HP:0010974	Abnormal myeloid leukocyte morphology	64919	BCL11B	OMIM:618092
HP:0010974	Abnormal myeloid leukocyte morphology	9939	RBM8A	OMIM:274000
HP:0010974	Abnormal myeloid leukocyte morphology	81704	DOCK8	OMIM:243700
HP:0010974	Abnormal myeloid leukocyte morphology	5699	PSMB10	OMIM:620807
HP:0010974	Abnormal myeloid leukocyte morphology	7535	ZAP70	ORPHA:911
HP:0010974	Abnormal myeloid leukocyte morphology	6778	STAT6	OMIM:620532
HP:0010974	Abnormal myeloid leukocyte morphology	56244	BTNL2	ORPHA:797
HP:0010974	Abnormal myeloid leukocyte morphology	3123	HLA-DRB1	ORPHA:797
HP:0010974	Abnormal myeloid leukocyte morphology	2215	FCGR3B	ORPHA:464370
HP:0010974	Abnormal myeloid leukocyte morphology	6772	STAT1	ORPHA:391487
HP:0010974	Abnormal myeloid leukocyte morphology	139818	DOCK11	OMIM:301109
HP:0010974	Abnormal myeloid leukocyte morphology	7174	TPP2	OMIM:619220
HP:0010974	Abnormal myeloid leukocyte morphology	4860	PNP	OMIM:613179
HP:0010974	Abnormal myeloid leukocyte morphology	54440	SASH3	OMIM:301082
HP:0010974	Abnormal myeloid leukocyte morphology	83737	ITCH	ORPHA:228426
HP:0010974	Abnormal myeloid leukocyte morphology	29851	ICOS	OMIM:607594
HP:0010974	Abnormal myeloid leukocyte morphology	51099	ABHD5	ORPHA:98907
HP:0010974	Abnormal myeloid leukocyte morphology	613	BCR	ORPHA:521
HP:0010974	Abnormal myeloid leukocyte morphology	25	ABL1	ORPHA:521
HP:0010974	Abnormal myeloid leukocyte morphology	861	RUNX1	ORPHA:521
HP:0010974	Abnormal myeloid leukocyte morphology	114548	NLRP3	ORPHA:1451
HP:0010974	Abnormal myeloid leukocyte morphology	23451	SF3B1	ORPHA:75564
HP:0010974	Abnormal myeloid leukocyte morphology	6234	RPS28	OMIM:606164
HP:0010974	Abnormal myeloid leukocyte morphology	6609	SMPD1	OMIM:607616
HP:0010974	Abnormal myeloid leukocyte morphology	6609	SMPD1	OMIM:257200
HP:0010974	Abnormal myeloid leukocyte morphology	10577	NPC2	OMIM:607625
HP:0010974	Abnormal myeloid leukocyte morphology	2720	GLB1	OMIM:230600
HP:0010974	Abnormal myeloid leukocyte morphology	348	APOE	ORPHA:158029
HP:0010974	Abnormal myeloid leukocyte morphology	348	APOE	OMIM:269600
HP:0010974	Abnormal myeloid leukocyte morphology	4864	NPC1	OMIM:257220
HP:0010974	Abnormal myeloid leukocyte morphology	1493	CTLA4	ORPHA:900
HP:0010974	Abnormal myeloid leukocyte morphology	26191	PTPN22	ORPHA:900
HP:0010974	Abnormal myeloid leukocyte morphology	3115	HLA-DPB1	ORPHA:900
HP:0010974	Abnormal myeloid leukocyte morphology	5657	PRTN3	ORPHA:900
HP:0010974	Abnormal myeloid leukocyte morphology	3113	HLA-DPA1	ORPHA:900
HP:0010974	Abnormal myeloid leukocyte morphology	84888	SPPL2A	OMIM:619549
HP:0010974	Abnormal myeloid leukocyte morphology	6445	SGCG	ORPHA:353
HP:0010974	Abnormal myeloid leukocyte morphology	219285	SAMD9L	ORPHA:2585
HP:0010974	Abnormal myeloid leukocyte morphology	3988	LIPA	OMIM:278000
HP:0010974	Abnormal myeloid leukocyte morphology	3988	LIPA	ORPHA:75233
HP:0010974	Abnormal myeloid leukocyte morphology	4758	NEU1	OMIM:256550
HP:0010974	Abnormal myeloid leukocyte morphology	10841	FTCD	OMIM:229100
HP:0010974	Abnormal myeloid leukocyte morphology	119559	SFXN4	OMIM:615578
HP:0010974	Abnormal myeloid leukocyte morphology	6573	SLC19A1	OMIM:601775
HP:0010974	Abnormal myeloid leukocyte morphology	4522	MTHFD1	OMIM:617780
HP:0010974	Abnormal myeloid leukocyte morphology	55343	SLC35C1	OMIM:266265
HP:0010974	Abnormal myeloid leukocyte morphology	4627	MYH9	OMIM:155100
HP:0010974	Abnormal myeloid leukocyte morphology	4627	MYH9	ORPHA:182050
HP:0010974	Abnormal myeloid leukocyte morphology	2542	SLC37A4	ORPHA:79259
HP:0010974	Abnormal myeloid leukocyte morphology	51594	NBAS	OMIM:614800
HP:0010974	Abnormal myeloid leukocyte morphology	10430	TMEM147	OMIM:620075
HP:0010974	Abnormal myeloid leukocyte morphology	90268	OTULIN	OMIM:617099
HP:0010974	Abnormal myeloid leukocyte morphology	4598	MVK	OMIM:260920
HP:0010974	Abnormal myeloid leukocyte morphology	26525	IL36RN	OMIM:614204
HP:0010974	Abnormal myeloid leukocyte morphology	4210	MEFV	ORPHA:3243
HP:0010974	Abnormal myeloid leukocyte morphology	4210	MEFV	OMIM:249100
HP:0010974	Abnormal myeloid leukocyte morphology	5777	PTPN6	ORPHA:3243
HP:0010974	Abnormal myeloid leukocyte morphology	5971	RELB	OMIM:617585
HP:0010974	Abnormal myeloid leukocyte morphology	3557	IL1RN	OMIM:612852
HP:0010974	Abnormal myeloid leukocyte morphology	7187	TRAF3	ORPHA:1930
HP:0010974	Abnormal myeloid leukocyte morphology	81622	UNC93B1	ORPHA:1930
HP:0010974	Abnormal myeloid leukocyte morphology	148022	TICAM1	ORPHA:1930
HP:0010974	Abnormal myeloid leukocyte morphology	7098	TLR3	ORPHA:1930
HP:0010974	Abnormal myeloid leukocyte morphology	29110	TBK1	ORPHA:1930
HP:0010974	Abnormal myeloid leukocyte morphology	5880	RAC2	ORPHA:183707
HP:0010974	Abnormal myeloid leukocyte morphology	2624	GATA2	ORPHA:228423
HP:0010974	Abnormal myeloid leukocyte morphology	1053	CEBPE	OMIM:245480
HP:0010974	Abnormal myeloid leukocyte morphology	7852	CXCR4	ORPHA:51636
HP:0010974	Abnormal myeloid leukocyte morphology	6208	RPS14	ORPHA:86841
HP:0010974	Abnormal myeloid leukocyte morphology	2821	GPI	OMIM:613470
HP:0010974	Abnormal myeloid leukocyte morphology	9056	SLC7A7	ORPHA:470
HP:0010974	Abnormal myeloid leukocyte morphology	9056	SLC7A7	OMIM:222700
HP:0010974	Abnormal myeloid leukocyte morphology	201294	UNC13D	OMIM:608898
HP:0010974	Abnormal myeloid leukocyte morphology	201294	UNC13D	ORPHA:540
HP:0010974	Abnormal myeloid leukocyte morphology	5873	RAB27A	OMIM:607624
HP:0010974	Abnormal myeloid leukocyte morphology	5873	RAB27A	ORPHA:79477
HP:0010974	Abnormal myeloid leukocyte morphology	84868	HAVCR2	ORPHA:86884
HP:0010974	Abnormal myeloid leukocyte morphology	84868	HAVCR2	OMIM:618398
HP:0010974	Abnormal myeloid leukocyte morphology	3702	ITK	OMIM:613011
HP:0010974	Abnormal myeloid leukocyte morphology	331	XIAP	OMIM:300635
HP:0010974	Abnormal myeloid leukocyte morphology	331	XIAP	OMIM:308240
HP:0010974	Abnormal myeloid leukocyte morphology	1777	DNASE2	OMIM:619858
HP:0010974	Abnormal myeloid leukocyte morphology	10019	SH2B3	OMIM:254450
HP:0010974	Abnormal myeloid leukocyte morphology	811	CALR	OMIM:254450
HP:0010974	Abnormal myeloid leukocyte morphology	3717	JAK2	OMIM:254450
HP:0010974	Abnormal myeloid leukocyte morphology	4352	MPL	OMIM:254450
HP:0010974	Abnormal myeloid leukocyte morphology	3458	IFNG	OMIM:618963
HP:0010974	Abnormal myeloid leukocyte morphology	51311	TLR8	OMIM:301078
HP:0010974	Abnormal myeloid leukocyte morphology	1130	LYST	ORPHA:167
HP:0010974	Abnormal myeloid leukocyte morphology	1130	LYST	OMIM:214500
HP:0010974	Abnormal myeloid leukocyte morphology	5551	PRF1	ORPHA:540
HP:0010974	Abnormal myeloid leukocyte morphology	5551	PRF1	OMIM:603553
HP:0010974	Abnormal myeloid leukocyte morphology	8676	STX11	ORPHA:540
HP:0010974	Abnormal myeloid leukocyte morphology	8676	STX11	OMIM:603552
HP:0010974	Abnormal myeloid leukocyte morphology	6813	STXBP2	ORPHA:540
HP:0010974	Abnormal myeloid leukocyte morphology	6813	STXBP2	OMIM:613101
HP:0010974	Abnormal myeloid leukocyte morphology	57169	ZNFX1	OMIM:619644
HP:0010974	Abnormal myeloid leukocyte morphology	939	CD27	OMIM:615122
HP:0010974	Abnormal myeloid leukocyte morphology	5294	PIK3CG	OMIM:619802
HP:0010974	Abnormal myeloid leukocyte morphology	4068	SH2D1A	OMIM:308240
HP:0010974	Abnormal myeloid leukocyte morphology	10312	TCIRG1	ORPHA:486
HP:0010974	Abnormal myeloid leukocyte morphology	6728	SRP19	ORPHA:486
HP:0010974	Abnormal myeloid leukocyte morphology	1991	ELANE	ORPHA:486
HP:0010974	Abnormal myeloid leukocyte morphology	1991	ELANE	OMIM:202700
HP:0010974	Abnormal myeloid leukocyte morphology	2672	GFI1	ORPHA:486
HP:0010974	Abnormal myeloid leukocyte morphology	2672	GFI1	OMIM:613107
HP:0010974	Abnormal myeloid leukocyte morphology	81570	CLPB	ORPHA:486
HP:0010974	Abnormal myeloid leukocyte morphology	5293	PIK3CD	OMIM:619281
HP:0010974	Abnormal myeloid leukocyte morphology	3551	IKBKB	OMIM:615592
HP:0010974	Abnormal myeloid leukocyte morphology	4893	NRAS	OMIM:614470
HP:0010974	Abnormal myeloid leukocyte morphology	3845	KRAS	OMIM:614470
HP:0010974	Abnormal myeloid leukocyte morphology	51428	DDX41	OMIM:616871
HP:0010974	Abnormal myeloid leukocyte morphology	92579	G6PC3	OMIM:612541
HP:0010974	Abnormal myeloid leukocyte morphology	6730	SRP68	OMIM:620534
HP:0010974	Abnormal myeloid leukocyte morphology	29927	SEC61A1	OMIM:620674
HP:0010974	Abnormal myeloid leukocyte morphology	10092	ARPC5	OMIM:620565
HP:0010974	Abnormal myeloid leukocyte morphology	84433	CARD11	OMIM:615206
HP:0010974	Abnormal myeloid leukocyte morphology	3394	IRF8	OMIM:226990
HP:0010974	Abnormal myeloid leukocyte morphology	60468	BACH2	OMIM:618394
HP:0010974	Abnormal myeloid leukocyte morphology	84196	USP48	ORPHA:96253
HP:0010974	Abnormal myeloid leukocyte morphology	7157	TP53	ORPHA:96253
HP:0010974	Abnormal myeloid leukocyte morphology	9101	USP8	ORPHA:96253
HP:0010974	Abnormal myeloid leukocyte morphology	64072	CDH23	ORPHA:96253
HP:0010974	Abnormal myeloid leukocyte morphology	2908	NR3C1	ORPHA:96253
HP:0010974	Abnormal myeloid leukocyte morphology	673	BRAF	ORPHA:96253
HP:0010974	Abnormal myeloid leukocyte morphology	29775	CARD10	OMIM:619632
HP:0010974	Abnormal myeloid leukocyte morphology	11005	SPINK5	OMIM:256500
HP:0010974	Abnormal myeloid leukocyte morphology	64170	CARD9	OMIM:212050
HP:0010974	Abnormal myeloid leukocyte morphology	10526	IPO8	OMIM:619472
HP:0010974	Abnormal myeloid leukocyte morphology	22861	NLRP1	OMIM:617388
HP:0010974	Abnormal myeloid leukocyte morphology	8288	EPX	OMIM:261500
HP:0010974	Abnormal myeloid leukocyte morphology	868	CBLB	OMIM:620430
HP:0010974	Abnormal myeloid leukocyte morphology	427	ASAH1	OMIM:228000
HP:0010974	Abnormal myeloid leukocyte morphology	5373	PMM2	ORPHA:79318
HP:0010974	Abnormal myeloid leukocyte morphology	3937	LCP2	OMIM:619374
HP:0010974	Abnormal myeloid leukocyte morphology	340665	CYP26C1	ORPHA:398189
HP:0010974	Abnormal myeloid leukocyte morphology	171023	ASXL1	ORPHA:98850
HP:0010974	Abnormal myeloid leukocyte morphology	171023	ASXL1	ORPHA:98849
HP:0010974	Abnormal myeloid leukocyte morphology	54790	TET2	ORPHA:98850
HP:0010974	Abnormal myeloid leukocyte morphology	54790	TET2	ORPHA:98849
HP:0010974	Abnormal myeloid leukocyte morphology	867	CBL	ORPHA:98850
HP:0010974	Abnormal myeloid leukocyte morphology	6427	SRSF2	ORPHA:98850
HP:0010974	Abnormal myeloid leukocyte morphology	6427	SRSF2	ORPHA:98849
HP:0010974	Abnormal myeloid leukocyte morphology	3815	KIT	ORPHA:98849
HP:0010974	Abnormal myeloid leukocyte morphology	3459	IFNGR1	OMIM:209950
HP:0010974	Abnormal myeloid leukocyte morphology	55315	SLC29A3	OMIM:602782
HP:0010974	Abnormal myeloid leukocyte morphology	55315	SLC29A3	ORPHA:168569
HP:0010974	Abnormal myeloid leukocyte morphology	3579	CXCR2	OMIM:619407
HP:0010974	Abnormal myeloid leukocyte morphology	987	LRBA	OMIM:614700
HP:0010974	Abnormal myeloid leukocyte morphology	51645	PPIL1	OMIM:619301
HP:0010974	Abnormal myeloid leukocyte morphology	51362	CDC40	OMIM:619302
HP:0010974	Abnormal myeloid leukocyte morphology	9158	FIBP	ORPHA:500095
HP:0010974	Abnormal myeloid leukocyte morphology	4353	MPO	OMIM:254600
HP:0010975	Abnormal B cell count	5557	PRIM1	OMIM:620005
HP:0010975	Abnormal B cell count	4791	NFKB2	ORPHA:293978
HP:0010975	Abnormal B cell count	5788	PTPRC	OMIM:619924
HP:0010975	Abnormal B cell count	9020	MAP3K14	OMIM:620449
HP:0010975	Abnormal B cell count	843	CASP10	OMIM:603909
HP:0010975	Abnormal B cell count	843	CASP10	ORPHA:3261
HP:0010975	Abnormal B cell count	5580	PRKCD	OMIM:615559
HP:0010975	Abnormal B cell count	355	FAS	ORPHA:3261
HP:0010975	Abnormal B cell count	356	FASLG	ORPHA:3261
HP:0010975	Abnormal B cell count	3071	NCKAP1L	OMIM:618982
HP:0010975	Abnormal B cell count	8517	IKBKG	ORPHA:98813
HP:0010975	Abnormal B cell count	4792	NFKBIA	ORPHA:98813
HP:0010975	Abnormal B cell count	4067	LYN	OMIM:620376
HP:0010975	Abnormal B cell count	84433	CARD11	OMIM:616452
HP:0010975	Abnormal B cell count	7535	ZAP70	OMIM:269840
HP:0010975	Abnormal B cell count	64170	CARD9	OMIM:212050
HP:0010975	Abnormal B cell count	930	CD19	OMIM:613493
HP:0010975	Abnormal B cell count	931	MS4A1	OMIM:613495
HP:0010975	Abnormal B cell count	27040	LAT	OMIM:617514
HP:0010975	Abnormal B cell count	975	CD81	OMIM:613496
HP:0010975	Abnormal B cell count	5896	RAG1	ORPHA:331206
HP:0010975	Abnormal B cell count	5897	RAG2	ORPHA:331206
HP:0010975	Abnormal B cell count	472	ATM	OMIM:208900
HP:0010975	Abnormal B cell count	916	CD3E	OMIM:615615
HP:0010975	Abnormal B cell count	3561	IL2RG	OMIM:312863
HP:0010975	Abnormal B cell count	51135	IRAK4	OMIM:607676
HP:0010975	Abnormal B cell count	868	CBLB	OMIM:620430
HP:0010975	Abnormal B cell count	4068	SH2D1A	OMIM:308240
HP:0010975	Abnormal B cell count	331	XIAP	OMIM:308240
HP:0010975	Abnormal B cell count	100	ADA	ORPHA:277
HP:0010975	Abnormal B cell count	100	ADA	OMIM:102700
HP:0010975	Abnormal B cell count	6772	STAT1	ORPHA:391487
HP:0010975	Abnormal B cell count	695	BTK	OMIM:300755
HP:0010975	Abnormal B cell count	55388	MCM10	OMIM:619313
HP:0010975	Abnormal B cell count	51095	TRNT1	OMIM:616084
HP:0010975	Abnormal B cell count	5993	RFX5	OMIM:620816
HP:0010975	Abnormal B cell count	4683	NBN	OMIM:251260
HP:0010975	Abnormal B cell count	5295	PIK3R1	OMIM:616005
HP:0010975	Abnormal B cell count	5295	PIK3R1	ORPHA:397596
HP:0010975	Abnormal B cell count	9841	ZBTB24	OMIM:614069
HP:0010975	Abnormal B cell count	5880	RAC2	OMIM:618986
HP:0010975	Abnormal B cell count	5880	RAC2	OMIM:618987
HP:0010975	Abnormal B cell count	22806	IKZF3	OMIM:619437
HP:0010975	Abnormal B cell count	987	LRBA	OMIM:614700
HP:0010975	Abnormal B cell count	8737	RIPK1	OMIM:618108
HP:0010975	Abnormal B cell count	54440	SASH3	OMIM:301082
HP:0010975	Abnormal B cell count	9094	UNC119	OMIM:615518
HP:0010975	Abnormal B cell count	5293	PIK3CD	ORPHA:221139
HP:0010975	Abnormal B cell count	5293	PIK3CD	OMIM:619281
HP:0010975	Abnormal B cell count	5293	PIK3CD	ORPHA:397596
HP:0010975	Abnormal B cell count	90417	KNSTRN	ORPHA:221139
HP:0010975	Abnormal B cell count	64421	DCLRE1C	OMIM:603554
HP:0010975	Abnormal B cell count	64421	DCLRE1C	OMIM:602450
HP:0010975	Abnormal B cell count	3507	IGHM	OMIM:601495
HP:0010975	Abnormal B cell count	114803	MYSM1	ORPHA:508542
HP:0010975	Abnormal B cell count	5728	PTEN	ORPHA:397596
HP:0010975	Abnormal B cell count	9948	WDR1	OMIM:150550
HP:0010975	Abnormal B cell count	23149	FCHO1	OMIM:619164
HP:0010975	Abnormal B cell count	974	CD79B	OMIM:612692
HP:0010975	Abnormal B cell count	5424	POLD1	OMIM:620836
HP:0010975	Abnormal B cell count	5591	PRKDC	OMIM:615966
HP:0010975	Abnormal B cell count	2672	GFI1	OMIM:613107
HP:0010975	Abnormal B cell count	3718	JAK3	ORPHA:35078
HP:0010975	Abnormal B cell count	79840	NHEJ1	ORPHA:169079
HP:0010975	Abnormal B cell count	29851	ICOS	OMIM:607594
HP:0010975	Abnormal B cell count	5966	REL	OMIM:619652
HP:0010975	Abnormal B cell count	23250	ATP11A	OMIM:619851
HP:0010975	Abnormal B cell count	51371	POMP	OMIM:618048
HP:0010975	Abnormal B cell count	4615	MYD88	OMIM:612260
HP:0010975	Abnormal B cell count	6929	TCF3	OMIM:616941
HP:0010975	Abnormal B cell count	6929	TCF3	OMIM:619824
HP:0010975	Abnormal B cell count	10625	IVNS1ABP	OMIM:618969
HP:0010975	Abnormal B cell count	79087	ALG12	ORPHA:79324
HP:0010975	Abnormal B cell count	51311	TLR8	OMIM:301078
HP:0010975	Abnormal B cell count	6850	SYK	OMIM:619381
HP:0010975	Abnormal B cell count	2624	GATA2	OMIM:614172
HP:0010975	Abnormal B cell count	567	B2M	OMIM:241600
HP:0010975	Abnormal B cell count	5699	PSMB10	OMIM:620807
HP:0010975	Abnormal B cell count	96459	FNIP1	OMIM:619705
HP:0010975	Abnormal B cell count	10320	IKZF1	OMIM:616873
HP:0010975	Abnormal B cell count	9138	ARHGEF1	OMIM:618459
HP:0010975	Abnormal B cell count	64858	DCLRE1B	OMIM:620133
HP:0010975	Abnormal B cell count	3559	IL2RA	OMIM:606367
HP:0010975	Abnormal B cell count	81704	DOCK8	ORPHA:217390
HP:0010975	Abnormal B cell count	3604	TNFRSF9	OMIM:620282
HP:0010975	Abnormal B cell count	6688	SPI1	OMIM:619707
HP:0010975	Abnormal B cell count	973	CD79A	OMIM:613501
HP:0010975	Abnormal B cell count	3543	IGLL1	OMIM:613500
HP:0010975	Abnormal B cell count	7922	SLC39A7	OMIM:619693
HP:0010975	Abnormal B cell count	1503	CTPS1	OMIM:615897
HP:0010975	Abnormal B cell count	2000	ELF4	OMIM:301074
HP:0010975	Abnormal B cell count	3551	IKBKB	OMIM:618204
HP:0010975	Abnormal B cell count	10043	TOM1	OMIM:619510
HP:0010975	Abnormal B cell count	3431	SP110	ORPHA:79124
HP:0010975	Abnormal B cell count	60468	BACH2	OMIM:618394
HP:0010975	Abnormal B cell count	8085	KMT2D	OMIM:147920
HP:0010975	Abnormal B cell count	7403	KDM6A	OMIM:147920
HP:0010975	Abnormal B cell count	3659	IRF1	OMIM:620668
HP:0010975	Abnormal B cell count	54790	TET2	OMIM:619126
HP:0010975	Abnormal B cell count	3937	LCP2	OMIM:619374
HP:0010975	Abnormal B cell count	8651	SOCS1	OMIM:619375
HP:0010975	Abnormal B cell count	23308	ICOSLG	OMIM:620825
HP:0010975	Abnormal B cell count	10525	HYOU1	OMIM:233600
HP:0010975	Abnormal B cell count	359948	IRF2BP2	OMIM:617765
HP:0010975	Abnormal B cell count	5336	PLCG2	OMIM:614878
HP:0010975	Abnormal B cell count	3570	IL6R	OMIM:618944
HP:0010975	Abnormal B cell count	59067	IL21	OMIM:615767
HP:0010975	Abnormal B cell count	56259	CTNNBL1	OMIM:619846
HP:0010975	Abnormal B cell count	29927	SEC61A1	OMIM:620674
HP:0010975	Abnormal B cell count	10125	RASGRP1	OMIM:618534
HP:0010976	B lymphocytopenia	5557	PRIM1	OMIM:620005
HP:0010976	B lymphocytopenia	4791	NFKB2	ORPHA:293978
HP:0010976	B lymphocytopenia	100	ADA	ORPHA:277
HP:0010976	B lymphocytopenia	100	ADA	OMIM:102700
HP:0010976	B lymphocytopenia	6772	STAT1	ORPHA:391487
HP:0010976	B lymphocytopenia	695	BTK	OMIM:300755
HP:0010976	B lymphocytopenia	55388	MCM10	OMIM:619313
HP:0010976	B lymphocytopenia	51095	TRNT1	OMIM:616084
HP:0010976	B lymphocytopenia	5993	RFX5	OMIM:620816
HP:0010976	B lymphocytopenia	4683	NBN	OMIM:251260
HP:0010976	B lymphocytopenia	5295	PIK3R1	OMIM:616005
HP:0010976	B lymphocytopenia	5295	PIK3R1	ORPHA:397596
HP:0010976	B lymphocytopenia	9841	ZBTB24	OMIM:614069
HP:0010976	B lymphocytopenia	5880	RAC2	OMIM:618986
HP:0010976	B lymphocytopenia	5880	RAC2	OMIM:618987
HP:0010976	B lymphocytopenia	22806	IKZF3	OMIM:619437
HP:0010976	B lymphocytopenia	987	LRBA	OMIM:614700
HP:0010976	B lymphocytopenia	8737	RIPK1	OMIM:618108
HP:0010976	B lymphocytopenia	8517	IKBKG	OMIM:301081
HP:0010976	B lymphocytopenia	54440	SASH3	OMIM:301082
HP:0010976	B lymphocytopenia	9094	UNC119	OMIM:615518
HP:0010976	B lymphocytopenia	5293	PIK3CD	ORPHA:221139
HP:0010976	B lymphocytopenia	5293	PIK3CD	OMIM:619281
HP:0010976	B lymphocytopenia	5293	PIK3CD	ORPHA:397596
HP:0010976	B lymphocytopenia	90417	KNSTRN	ORPHA:221139
HP:0010976	B lymphocytopenia	5896	RAG1	OMIM:603554
HP:0010976	B lymphocytopenia	5896	RAG1	OMIM:601457
HP:0010976	B lymphocytopenia	5896	RAG1	ORPHA:231154
HP:0010976	B lymphocytopenia	5896	RAG1	OMIM:233650
HP:0010976	B lymphocytopenia	5897	RAG2	OMIM:603554
HP:0010976	B lymphocytopenia	5897	RAG2	OMIM:601457
HP:0010976	B lymphocytopenia	5897	RAG2	OMIM:233650
HP:0010976	B lymphocytopenia	64421	DCLRE1C	OMIM:603554
HP:0010976	B lymphocytopenia	64421	DCLRE1C	OMIM:602450
HP:0010976	B lymphocytopenia	3507	IGHM	OMIM:601495
HP:0010976	B lymphocytopenia	114803	MYSM1	ORPHA:508542
HP:0010976	B lymphocytopenia	5728	PTEN	ORPHA:397596
HP:0010976	B lymphocytopenia	9948	WDR1	OMIM:150550
HP:0010976	B lymphocytopenia	23149	FCHO1	OMIM:619164
HP:0010976	B lymphocytopenia	974	CD79B	OMIM:612692
HP:0010976	B lymphocytopenia	5788	PTPRC	OMIM:619924
HP:0010976	B lymphocytopenia	5424	POLD1	OMIM:620836
HP:0010976	B lymphocytopenia	5591	PRKDC	OMIM:615966
HP:0010976	B lymphocytopenia	2672	GFI1	OMIM:613107
HP:0010976	B lymphocytopenia	3718	JAK3	ORPHA:35078
HP:0010976	B lymphocytopenia	79840	NHEJ1	ORPHA:169079
HP:0010976	B lymphocytopenia	29851	ICOS	OMIM:607594
HP:0010976	B lymphocytopenia	5966	REL	OMIM:619652
HP:0010976	B lymphocytopenia	23250	ATP11A	OMIM:619851
HP:0010976	B lymphocytopenia	51371	POMP	OMIM:618048
HP:0010976	B lymphocytopenia	4615	MYD88	OMIM:612260
HP:0010976	B lymphocytopenia	6929	TCF3	OMIM:616941
HP:0010976	B lymphocytopenia	6929	TCF3	OMIM:619824
HP:0010976	B lymphocytopenia	10625	IVNS1ABP	OMIM:618969
HP:0010976	B lymphocytopenia	9020	MAP3K14	OMIM:620449
HP:0010976	B lymphocytopenia	79087	ALG12	ORPHA:79324
HP:0010976	B lymphocytopenia	51311	TLR8	OMIM:301078
HP:0010976	B lymphocytopenia	6850	SYK	OMIM:619381
HP:0010976	B lymphocytopenia	2624	GATA2	OMIM:614172
HP:0010976	B lymphocytopenia	567	B2M	OMIM:241600
HP:0010976	B lymphocytopenia	5699	PSMB10	OMIM:620807
HP:0010976	B lymphocytopenia	96459	FNIP1	OMIM:619705
HP:0010976	B lymphocytopenia	10320	IKZF1	OMIM:616873
HP:0010976	B lymphocytopenia	9138	ARHGEF1	OMIM:618459
HP:0010976	B lymphocytopenia	64858	DCLRE1B	OMIM:620133
HP:0010976	B lymphocytopenia	3559	IL2RA	OMIM:606367
HP:0010976	B lymphocytopenia	81704	DOCK8	ORPHA:217390
HP:0010976	B lymphocytopenia	3604	TNFRSF9	OMIM:620282
HP:0010976	B lymphocytopenia	6688	SPI1	OMIM:619707
HP:0010976	B lymphocytopenia	973	CD79A	OMIM:613501
HP:0010976	B lymphocytopenia	3543	IGLL1	OMIM:613500
HP:0010976	B lymphocytopenia	7922	SLC39A7	OMIM:619693
HP:0010977	Abnormal phagocytosis	4688	NCF2	OMIM:233710
HP:0010977	Abnormal phagocytosis	1536	CYBB	OMIM:306400
HP:0010977	Abnormal phagocytosis	653361	NCF1	OMIM:233700
HP:0010977	Abnormal phagocytosis	1535	CYBA	OMIM:233690
HP:0010977	Abnormal phagocytosis	2542	SLC37A4	OMIM:232240
HP:0010978	Abnormality of immune system physiology	23394	ADNP	ORPHA:404448
HP:0010978	Abnormality of immune system physiology	23394	ADNP	OMIM:615873
HP:0010978	Abnormality of immune system physiology	9860	LRIG2	OMIM:615112
HP:0010978	Abnormality of immune system physiology	9860	LRIG2	ORPHA:2704
HP:0010978	Abnormality of immune system physiology	3426	CFI	OMIM:610984
HP:0010978	Abnormality of immune system physiology	1131	CHRM3	ORPHA:2970
HP:0010978	Abnormality of immune system physiology	6519	SLC3A1	OMIM:220100
HP:0010978	Abnormality of immune system physiology	11136	SLC7A9	OMIM:220100
HP:0010978	Abnormality of immune system physiology	3313	HSPA9	OMIM:616854
HP:0010978	Abnormality of immune system physiology	10686	CLDN16	OMIM:248250
HP:0010978	Abnormality of immune system physiology	6595	SMARCA2	OMIM:619293
HP:0010978	Abnormality of immune system physiology	51726	DNAJB11	ORPHA:730
HP:0010978	Abnormality of immune system physiology	23193	GANAB	ORPHA:730
HP:0010978	Abnormality of immune system physiology	5310	PKD1	ORPHA:730
HP:0010978	Abnormality of immune system physiology	5311	PKD2	ORPHA:730
HP:0010978	Abnormality of immune system physiology	5311	PKD2	OMIM:613095
HP:0010978	Abnormality of immune system physiology	29880	ALG5	ORPHA:730
HP:0010978	Abnormality of immune system physiology	80114	BICC1	ORPHA:730
HP:0010978	Abnormality of immune system physiology	284058	KANSL1	ORPHA:363958
HP:0010978	Abnormality of immune system physiology	284058	KANSL1	ORPHA:363965
HP:0010978	Abnormality of immune system physiology	284058	KANSL1	OMIM:610443
HP:0010978	Abnormality of immune system physiology	54496	PRMT7	OMIM:617157
HP:0010978	Abnormality of immune system physiology	1136	CHRNA3	OMIM:191800
HP:0010978	Abnormality of immune system physiology	284252	KCTD1	ORPHA:2036
HP:0010978	Abnormality of immune system physiology	672	BRCA1	ORPHA:84
HP:0010978	Abnormality of immune system physiology	10459	MAD2L2	ORPHA:84
HP:0010978	Abnormality of immune system physiology	7516	XRCC2	ORPHA:84
HP:0010978	Abnormality of immune system physiology	29089	UBE2T	ORPHA:84
HP:0010978	Abnormality of immune system physiology	675	BRCA2	ORPHA:84
HP:0010978	Abnormality of immune system physiology	55120	FANCL	ORPHA:84
HP:0010978	Abnormality of immune system physiology	2177	FANCD2	ORPHA:84
HP:0010978	Abnormality of immune system physiology	2175	FANCA	ORPHA:84
HP:0010978	Abnormality of immune system physiology	2187	FANCB	ORPHA:84
HP:0010978	Abnormality of immune system physiology	2176	FANCC	ORPHA:84
HP:0010978	Abnormality of immune system physiology	2178	FANCE	ORPHA:84
HP:0010978	Abnormality of immune system physiology	2189	FANCG	ORPHA:84
HP:0010978	Abnormality of immune system physiology	5888	RAD51	ORPHA:84
HP:0010978	Abnormality of immune system physiology	5889	RAD51C	ORPHA:84
HP:0010978	Abnormality of immune system physiology	55159	RFWD3	ORPHA:84
HP:0010978	Abnormality of immune system physiology	83990	BRIP1	ORPHA:84
HP:0010978	Abnormality of immune system physiology	57697	FANCM	ORPHA:84
HP:0010978	Abnormality of immune system physiology	79728	PALB2	ORPHA:84
HP:0010978	Abnormality of immune system physiology	84464	SLX4	ORPHA:84
HP:0010978	Abnormality of immune system physiology	2072	ERCC4	ORPHA:84
HP:0010978	Abnormality of immune system physiology	55215	FANCI	ORPHA:84
HP:0010978	Abnormality of immune system physiology	3670	ISL1	ORPHA:93930
HP:0010978	Abnormality of immune system physiology	3209	HOXA13	ORPHA:2438
HP:0010978	Abnormality of immune system physiology	10524	KAT5	OMIM:619103
HP:0010978	Abnormality of immune system physiology	149461	CLDN19	OMIM:248190
HP:0010978	Abnormality of immune system physiology	60495	HPSE2	ORPHA:2704
HP:0010978	Abnormality of immune system physiology	60495	HPSE2	OMIM:236730
HP:0010978	Abnormality of immune system physiology	6304	SATB1	OMIM:619229
HP:0010978	Abnormality of immune system physiology	8883	NAE1	OMIM:620210
HP:0010978	Abnormality of immune system physiology	84265	POLR3GL	OMIM:619234
HP:0010978	Abnormality of immune system physiology	7461	CLIP2	ORPHA:904
HP:0010978	Abnormality of immune system physiology	84277	DNAJC30	ORPHA:904
HP:0010978	Abnormality of immune system physiology	8468	FKBP6	ORPHA:904
HP:0010978	Abnormality of immune system physiology	5982	RFC2	ORPHA:904
HP:0010978	Abnormality of immune system physiology	2969	GTF2I	ORPHA:904
HP:0010978	Abnormality of immune system physiology	3984	LIMK1	ORPHA:904
HP:0010978	Abnormality of immune system physiology	9569	GTF2IRD1	ORPHA:904
HP:0010978	Abnormality of immune system physiology	155382	VPS37D	ORPHA:904
HP:0010978	Abnormality of immune system physiology	155368	METTL27	ORPHA:904
HP:0010978	Abnormality of immune system physiology	114049	BUD23	ORPHA:904
HP:0010978	Abnormality of immune system physiology	7458	EIF4H	ORPHA:904
HP:0010978	Abnormality of immune system physiology	84163	GTF2IRD2	ORPHA:904
HP:0010978	Abnormality of immune system physiology	26608	TBL2	ORPHA:904
HP:0010978	Abnormality of immune system physiology	135886	TMEM270	ORPHA:904
HP:0010978	Abnormality of immune system physiology	9031	BAZ1B	ORPHA:904
HP:0010978	Abnormality of immune system physiology	54796	BNC2	ORPHA:93110
HP:0010978	Abnormality of immune system physiology	10056	FARSB	OMIM:613658
HP:0010978	Abnormality of immune system physiology	7466	WFS1	ORPHA:3463
HP:0010978	Abnormality of immune system physiology	9380	GRHPR	ORPHA:93599
HP:0010978	Abnormality of immune system physiology	8936	WASF1	OMIM:618707
HP:0010978	Abnormality of immune system physiology	189	AGXT	ORPHA:93598
HP:0010978	Abnormality of immune system physiology	2131	EXT1	ORPHA:502
HP:0010978	Abnormality of immune system physiology	5885	RAD21	ORPHA:502
HP:0010978	Abnormality of immune system physiology	7227	TRPS1	ORPHA:502
HP:0010978	Abnormality of immune system physiology	79228	THOC6	ORPHA:363444
HP:0010978	Abnormality of immune system physiology	79228	THOC6	OMIM:613680
HP:0010978	Abnormality of immune system physiology	79803	HPS6	OMIM:614075
HP:0010978	Abnormality of immune system physiology	10398	MYL9	OMIM:619365
HP:0010978	Abnormality of immune system physiology	7148	TNXB	OMIM:615963
HP:0010978	Abnormality of immune system physiology	9562	MINPP1	OMIM:619527
HP:0010978	Abnormality of immune system physiology	353	APRT	ORPHA:976
HP:0010978	Abnormality of immune system physiology	403	ARL3	OMIM:618161
HP:0010978	Abnormality of immune system physiology	6524	SLC5A2	ORPHA:69076
HP:0010978	Abnormality of immune system physiology	7994	KAT6A	OMIM:616268
HP:0010978	Abnormality of immune system physiology	64321	SOX17	OMIM:613674
HP:0010978	Abnormality of immune system physiology	4052	LTBP1	ORPHA:90349
HP:0010978	Abnormality of immune system physiology	30008	EFEMP2	ORPHA:90349
HP:0010978	Abnormality of immune system physiology	10516	FBLN5	ORPHA:90349
HP:0010978	Abnormality of immune system physiology	2303	FOXC2	ORPHA:33001
HP:0010978	Abnormality of immune system physiology	1291	COL6A1	OMIM:158810
HP:0010978	Abnormality of immune system physiology	4001	LMNB1	ORPHA:99027
HP:0010978	Abnormality of immune system physiology	3081	HGD	ORPHA:56
HP:0010978	Abnormality of immune system physiology	81494	CFHR5	OMIM:614809
HP:0010978	Abnormality of immune system physiology	4311	MME	ORPHA:69063
HP:0010978	Abnormality of immune system physiology	3913	LAMB2	OMIM:614199
HP:0010978	Abnormality of immune system physiology	57728	WDR19	OMIM:614376
HP:0010978	Abnormality of immune system physiology	7369	UMOD	OMIM:162000
HP:0010978	Abnormality of immune system physiology	4613	MYCN	ORPHA:391641
HP:0010978	Abnormality of immune system physiology	1286	COL4A4	OMIM:203780
HP:0010978	Abnormality of immune system physiology	1285	COL4A3	OMIM:104200
HP:0010978	Abnormality of immune system physiology	5340	PLG	OMIM:217090
HP:0010978	Abnormality of immune system physiology	4627	MYH9	ORPHA:182050
HP:0010978	Abnormality of immune system physiology	977	CD151	OMIM:609057
HP:0010978	Abnormality of immune system physiology	847	CAT	ORPHA:926
HP:0010978	Abnormality of immune system physiology	3659	IRF1	OMIM:620668
HP:0010978	Abnormality of immune system physiology	4256	MGP	OMIM:245150
HP:0010978	Abnormality of immune system physiology	4763	NF1	ORPHA:363700
HP:0010978	Abnormality of immune system physiology	860	RUNX2	ORPHA:1452
HP:0010978	Abnormality of immune system physiology	51314	NME8	OMIM:610852
HP:0010978	Abnormality of immune system physiology	352909	DNAAF3	OMIM:606763
HP:0010978	Abnormality of immune system physiology	3321	IGSF3	OMIM:149700
HP:0010978	Abnormality of immune system physiology	79158	GNPTAB	ORPHA:576
HP:0010978	Abnormality of immune system physiology	2263	FGFR2	ORPHA:87
HP:0010978	Abnormality of immune system physiology	6103	RPGR	OMIM:300455
HP:0010978	Abnormality of immune system physiology	64324	NSD1	OMIM:117550
HP:0010978	Abnormality of immune system physiology	152110	NEK10	OMIM:618781
HP:0010978	Abnormality of immune system physiology	25836	NIPBL	OMIM:122470
HP:0010978	Abnormality of immune system physiology	29887	SNX10	ORPHA:667
HP:0010978	Abnormality of immune system physiology	8600	TNFSF11	ORPHA:667
HP:0010978	Abnormality of immune system physiology	11011	TLK2	OMIM:618050
HP:0010978	Abnormality of immune system physiology	339829	CCDC39	OMIM:613807
HP:0010978	Abnormality of immune system physiology	3590	IL11RA	OMIM:614188
HP:0010978	Abnormality of immune system physiology	10297	APC2	ORPHA:821
HP:0010978	Abnormality of immune system physiology	6872	TAF1	OMIM:300966
HP:0010978	Abnormality of immune system physiology	6872	TAF1	ORPHA:480907
HP:0010978	Abnormality of immune system physiology	29123	ANKRD11	ORPHA:261250
HP:0010978	Abnormality of immune system physiology	23483	TGDS	ORPHA:1388
HP:0010978	Abnormality of immune system physiology	8604	SLC25A12	OMIM:612949
HP:0010978	Abnormality of immune system physiology	9496	TBX4	ORPHA:261279
HP:0010978	Abnormality of immune system physiology	2070	EYA4	ORPHA:217622
HP:0010978	Abnormality of immune system physiology	80232	WDR26	ORPHA:513456
HP:0010978	Abnormality of immune system physiology	80232	WDR26	OMIM:617616
HP:0010978	Abnormality of immune system physiology	89765	RSPH1	OMIM:615481
HP:0010978	Abnormality of immune system physiology	89765	RSPH1	ORPHA:244
HP:0010978	Abnormality of immune system physiology	161582	DNAAF4	OMIM:615482
HP:0010978	Abnormality of immune system physiology	161582	DNAAF4	ORPHA:244
HP:0010978	Abnormality of immune system physiology	5818	NECTIN1	ORPHA:199306
HP:0010978	Abnormality of immune system physiology	1739	DLG1	ORPHA:199306
HP:0010978	Abnormality of immune system physiology	999	CDH1	ORPHA:199306
HP:0010978	Abnormality of immune system physiology	5156	PDGFRA	ORPHA:199306
HP:0010978	Abnormality of immune system physiology	3664	IRF6	ORPHA:199306
HP:0010978	Abnormality of immune system physiology	1748	DLX4	ORPHA:199306
HP:0010978	Abnormality of immune system physiology	4487	MSX1	ORPHA:199306
HP:0010978	Abnormality of immune system physiology	652	BMP4	ORPHA:199306
HP:0010978	Abnormality of immune system physiology	22837	COBLL1	ORPHA:199306
HP:0010978	Abnormality of immune system physiology	54848	ARHGEF38	ORPHA:199306
HP:0010978	Abnormality of immune system physiology	9411	ARHGAP29	ORPHA:199306
HP:0010978	Abnormality of immune system physiology	51111	KMT5B	OMIM:617788
HP:0010978	Abnormality of immune system physiology	146845	CFAP52	OMIM:619607
HP:0010978	Abnormality of immune system physiology	2314	FLII	ORPHA:819
HP:0010978	Abnormality of immune system physiology	23096	IQSEC2	ORPHA:819
HP:0010978	Abnormality of immune system physiology	10743	RAI1	ORPHA:819
HP:0010978	Abnormality of immune system physiology	144568	A2ML1	OMIM:166760
HP:0010978	Abnormality of immune system physiology	8382	NME5	OMIM:620032
HP:0010978	Abnormality of immune system physiology	8382	NME5	ORPHA:244
HP:0010978	Abnormality of immune system physiology	1301	COL11A1	OMIM:154780
HP:0010978	Abnormality of immune system physiology	56992	KIF15	ORPHA:261323
HP:0010978	Abnormality of immune system physiology	7314	UBB	ORPHA:155878
HP:0010978	Abnormality of immune system physiology	7314	UBB	ORPHA:99772
HP:0010978	Abnormality of immune system physiology	57822	GRHL3	ORPHA:155878
HP:0010978	Abnormality of immune system physiology	57822	GRHL3	ORPHA:99772
HP:0010978	Abnormality of immune system physiology	123872	DNAAF1	OMIM:613193
HP:0010978	Abnormality of immune system physiology	123872	DNAAF1	ORPHA:244
HP:0010978	Abnormality of immune system physiology	25885	POLR1A	OMIM:616462
HP:0010978	Abnormality of immune system physiology	6885	MAP3K7	OMIM:157800
HP:0010978	Abnormality of immune system physiology	3425	IDUA	OMIM:607014
HP:0010978	Abnormality of immune system physiology	26834	RNU4-2	OMIM:620851
HP:0010978	Abnormality of immune system physiology	30011	SH3KBP1	OMIM:300310
HP:0010978	Abnormality of immune system physiology	83861	RSPH3	OMIM:616481
HP:0010978	Abnormality of immune system physiology	83861	RSPH3	ORPHA:244
HP:0010978	Abnormality of immune system physiology	56006	SMG9	OMIM:619995
HP:0010978	Abnormality of immune system physiology	8364	H4C3	OMIM:619758
HP:0010978	Abnormality of immune system physiology	54499	TMCO1	OMIM:213980
HP:0010978	Abnormality of immune system physiology	113179	ADAT3	OMIM:615286
HP:0010978	Abnormality of immune system physiology	113179	ADAT3	ORPHA:363528
HP:0010978	Abnormality of immune system physiology	54919	DNAAF5	OMIM:614874
HP:0010978	Abnormality of immune system physiology	54919	DNAAF5	ORPHA:244
HP:0010978	Abnormality of immune system physiology	3373	HYAL1	OMIM:601492
HP:0010978	Abnormality of immune system physiology	2535	FZD2	OMIM:164745
HP:0010978	Abnormality of immune system physiology	7030	TFE3	OMIM:301066
HP:0010978	Abnormality of immune system physiology	92749	DRC1	OMIM:615294
HP:0010978	Abnormality of immune system physiology	92749	DRC1	ORPHA:244
HP:0010978	Abnormality of immune system physiology	84522	JAGN1	OMIM:616022
HP:0010978	Abnormality of immune system physiology	246176	GAS2L2	OMIM:618449
HP:0010978	Abnormality of immune system physiology	246176	GAS2L2	ORPHA:244
HP:0010978	Abnormality of immune system physiology	25981	DNAH1	ORPHA:244
HP:0010978	Abnormality of immune system physiology	54768	HYDIN	ORPHA:244
HP:0010978	Abnormality of immune system physiology	54768	HYDIN	OMIM:608647
HP:0010978	Abnormality of immune system physiology	27148	STK36	ORPHA:244
HP:0010978	Abnormality of immune system physiology	27148	STK36	OMIM:619436
HP:0010978	Abnormality of immune system physiology	54970	TTC12	ORPHA:244
HP:0010978	Abnormality of immune system physiology	2302	FOXJ1	ORPHA:244
HP:0010978	Abnormality of immune system physiology	221421	RSPH9	ORPHA:244
HP:0010978	Abnormality of immune system physiology	85478	CCDC65	ORPHA:244
HP:0010978	Abnormality of immune system physiology	85478	CCDC65	OMIM:615504
HP:0010978	Abnormality of immune system physiology	55036	CCDC40	ORPHA:244
HP:0010978	Abnormality of immune system physiology	55036	CCDC40	OMIM:613808
HP:0010978	Abnormality of immune system physiology	51364	ZMYND10	ORPHA:244
HP:0010978	Abnormality of immune system physiology	51364	ZMYND10	OMIM:615444
HP:0010978	Abnormality of immune system physiology	6674	SPAG1	ORPHA:244
HP:0010978	Abnormality of immune system physiology	6674	SPAG1	OMIM:615505
HP:0010978	Abnormality of immune system physiology	83544	DNAL1	ORPHA:244
HP:0010978	Abnormality of immune system physiology	83538	ODAD4	ORPHA:244
HP:0010978	Abnormality of immune system physiology	200373	CFAP221	ORPHA:244
HP:0010978	Abnormality of immune system physiology	374407	DNAJB13	ORPHA:244
HP:0010978	Abnormality of immune system physiology	55172	DNAAF2	ORPHA:244
HP:0010978	Abnormality of immune system physiology	2622	GAS8	ORPHA:244
HP:0010978	Abnormality of immune system physiology	2622	GAS8	OMIM:616726
HP:0010978	Abnormality of immune system physiology	23639	DNAAF11	ORPHA:244
HP:0010978	Abnormality of immune system physiology	23639	DNAAF11	OMIM:614935
HP:0010978	Abnormality of immune system physiology	345895	RSPH4A	ORPHA:244
HP:0010978	Abnormality of immune system physiology	85452	CFAP74	ORPHA:244
HP:0010978	Abnormality of immune system physiology	93233	ODAD1	ORPHA:244
HP:0010978	Abnormality of immune system physiology	93233	ODAD1	OMIM:615067
HP:0010978	Abnormality of immune system physiology	55130	ODAD2	ORPHA:244
HP:0010978	Abnormality of immune system physiology	55130	ODAD2	OMIM:615451
HP:0010978	Abnormality of immune system physiology	1767	DNAH5	ORPHA:244
HP:0010978	Abnormality of immune system physiology	1767	DNAH5	OMIM:608644
HP:0010978	Abnormality of immune system physiology	56683	CFAP298	ORPHA:244
HP:0010978	Abnormality of immune system physiology	56683	CFAP298	OMIM:615500
HP:0010978	Abnormality of immune system physiology	79925	SPEF2	ORPHA:244
HP:0010978	Abnormality of immune system physiology	115399	LRRC56	ORPHA:244
HP:0010978	Abnormality of immune system physiology	115399	LRRC56	OMIM:618254
HP:0010978	Abnormality of immune system physiology	139212	DNAAF6	ORPHA:244
HP:0010978	Abnormality of immune system physiology	85016	CFAP300	ORPHA:244
HP:0010978	Abnormality of immune system physiology	8701	DNAH11	ORPHA:244
HP:0010978	Abnormality of immune system physiology	8701	DNAH11	OMIM:611884
HP:0010978	Abnormality of immune system physiology	1770	DNAH9	ORPHA:244
HP:0010978	Abnormality of immune system physiology	2742	GLRA2	OMIM:301076
HP:0010978	Abnormality of immune system physiology	55023	PHIP	ORPHA:589905
HP:0010978	Abnormality of immune system physiology	29072	SETD2	OMIM:616831
HP:0010978	Abnormality of immune system physiology	7068	THRB	ORPHA:566243
HP:0010978	Abnormality of immune system physiology	1642	DDB1	OMIM:619426
HP:0010978	Abnormality of immune system physiology	5908	RAP1B	OMIM:620654
HP:0010978	Abnormality of immune system physiology	388015	RTL1	ORPHA:254531
HP:0010978	Abnormality of immune system physiology	388015	RTL1	ORPHA:96184
HP:0010978	Abnormality of immune system physiology	8788	DLK1	ORPHA:254531
HP:0010978	Abnormality of immune system physiology	8788	DLK1	ORPHA:96184
HP:0010978	Abnormality of immune system physiology	55384	MEG3	ORPHA:254531
HP:0010978	Abnormality of immune system physiology	55384	MEG3	ORPHA:96184
HP:0010978	Abnormality of immune system physiology	5575	PRKAR1B	OMIM:619680
HP:0010978	Abnormality of immune system physiology	388389	DNAAF19	OMIM:614679
HP:0010978	Abnormality of immune system physiology	4297	KMT2A	OMIM:605130
HP:0010978	Abnormality of immune system physiology	57551	TAOK1	OMIM:619575
HP:0010978	Abnormality of immune system physiology	6045	RNF2	OMIM:619460
HP:0010978	Abnormality of immune system physiology	1280	COL2A1	OMIM:156550
HP:0010978	Abnormality of immune system physiology	1053	CEBPE	OMIM:245480
HP:0010978	Abnormality of immune system physiology	5718	PSMD12	ORPHA:529962
HP:0010978	Abnormality of immune system physiology	2186	BPTF	ORPHA:529962
HP:0010978	Abnormality of immune system physiology	1822	ATN1	OMIM:618494
HP:0010978	Abnormality of immune system physiology	6874	TAF4	OMIM:620450
HP:0010978	Abnormality of immune system physiology	164781	DAW1	OMIM:620570
HP:0010978	Abnormality of immune system physiology	55329	MNS1	OMIM:618948
HP:0010978	Abnormality of immune system physiology	920	CD4	OMIM:619238
HP:0010978	Abnormality of immune system physiology	3570	IL6R	OMIM:618944
HP:0010978	Abnormality of immune system physiology	23112	TNRC6B	OMIM:619243
HP:0010978	Abnormality of immune system physiology	2799	GNS	OMIM:252940
HP:0010978	Abnormality of immune system physiology	83844	USP26	OMIM:301101
HP:0010978	Abnormality of immune system physiology	5879	RAC1	OMIM:617751
HP:0010978	Abnormality of immune system physiology	5879	RAC1	ORPHA:500159
HP:0010978	Abnormality of immune system physiology	341208	HEPHL1	OMIM:261990
HP:0010978	Abnormality of immune system physiology	6736	SRY	ORPHA:1772
HP:0010978	Abnormality of immune system physiology	5130	PCYT1A	OMIM:608940
HP:0010978	Abnormality of immune system physiology	1643	DDB2	OMIM:278740
HP:0010978	Abnormality of immune system physiology	1643	DDB2	ORPHA:910
HP:0010978	Abnormality of immune system physiology	5080	PAX6	ORPHA:2334
HP:0010978	Abnormality of immune system physiology	5080	PAX6	OMIM:148190
HP:0010978	Abnormality of immune system physiology	22947	DUX4L1	ORPHA:269
HP:0010978	Abnormality of immune system physiology	2483	FRG1	ORPHA:269
HP:0010978	Abnormality of immune system physiology	23347	SMCHD1	ORPHA:269
HP:0010978	Abnormality of immune system physiology	100288687	DUX4	ORPHA:269
HP:0010978	Abnormality of immune system physiology	7507	XPA	OMIM:278700
HP:0010978	Abnormality of immune system physiology	7507	XPA	ORPHA:910
HP:0010978	Abnormality of immune system physiology	5429	POLH	OMIM:278750
HP:0010978	Abnormality of immune system physiology	5429	POLH	ORPHA:90342
HP:0010978	Abnormality of immune system physiology	6935	ZEB1	OMIM:613270
HP:0010978	Abnormality of immune system physiology	7508	XPC	OMIM:278720
HP:0010978	Abnormality of immune system physiology	7508	XPC	ORPHA:910
HP:0010978	Abnormality of immune system physiology	9244	CRLF1	OMIM:272430
HP:0010978	Abnormality of immune system physiology	23476	BRD4	ORPHA:199
HP:0010978	Abnormality of immune system physiology	9126	SMC3	ORPHA:199
HP:0010978	Abnormality of immune system physiology	6878	TAF6	ORPHA:199
HP:0010978	Abnormality of immune system physiology	55869	HDAC8	ORPHA:199
HP:0010978	Abnormality of immune system physiology	5980	REV3L	ORPHA:570
HP:0010978	Abnormality of immune system physiology	23129	PLXND1	ORPHA:570
HP:0010978	Abnormality of immune system physiology	6768	ST14	OMIM:602400
HP:0010978	Abnormality of immune system physiology	23556	PIGN	ORPHA:280633
HP:0010978	Abnormality of immune system physiology	5333	PLCD1	ORPHA:2387
HP:0010978	Abnormality of immune system physiology	488	ATP2A2	ORPHA:218
HP:0010978	Abnormality of immune system physiology	1161	ERCC8	ORPHA:90321
HP:0010978	Abnormality of immune system physiology	1161	ERCC8	ORPHA:90322
HP:0010978	Abnormality of immune system physiology	7086	TKT	ORPHA:488618
HP:0010978	Abnormality of immune system physiology	5075	PAX1	OMIM:615560
HP:0010978	Abnormality of immune system physiology	7390	UROS	OMIM:263700
HP:0010978	Abnormality of immune system physiology	726	CAPN5	OMIM:193235
HP:0010978	Abnormality of immune system physiology	220202	ATOH7	OMIM:221900
HP:0010978	Abnormality of immune system physiology	84181	CHD6	ORPHA:2108
HP:0010978	Abnormality of immune system physiology	1281	COL3A1	OMIM:130050
HP:0010978	Abnormality of immune system physiology	1281	COL3A1	ORPHA:286
HP:0010978	Abnormality of immune system physiology	55612	FERMT1	ORPHA:2908
HP:0010978	Abnormality of immune system physiology	55612	FERMT1	OMIM:173650
HP:0010978	Abnormality of immune system physiology	165	AEBP1	OMIM:618000
HP:0010978	Abnormality of immune system physiology	165	AEBP1	ORPHA:536532
HP:0010978	Abnormality of immune system physiology	2248	FGF3	ORPHA:2791
HP:0010978	Abnormality of immune system physiology	92344	GORAB	OMIM:231070
HP:0010978	Abnormality of immune system physiology	8546	AP3B1	OMIM:608233
HP:0010978	Abnormality of immune system physiology	4853	NOTCH2	ORPHA:955
HP:0010978	Abnormality of immune system physiology	4952	OCRL	ORPHA:534
HP:0010978	Abnormality of immune system physiology	1075	CTSC	ORPHA:678
HP:0010978	Abnormality of immune system physiology	54345	SOX18	OMIM:137940
HP:0010978	Abnormality of immune system physiology	8526	DGKE	OMIM:615008
HP:0010978	Abnormality of immune system physiology	6909	TBX2	OMIM:618223
HP:0010978	Abnormality of immune system physiology	10068	IL18BP	OMIM:618549
HP:0010978	Abnormality of immune system physiology	5428	POLG	ORPHA:94125
HP:0010978	Abnormality of immune system physiology	27022	FOXD3	OMIM:607836
HP:0010978	Abnormality of immune system physiology	23040	MYT1L	ORPHA:647799
HP:0010978	Abnormality of immune system physiology	716	C1S	OMIM:613783
HP:0010978	Abnormality of immune system physiology	1027	CDKN1B	OMIM:610755
HP:0010978	Abnormality of immune system physiology	1188	CLCNKB	ORPHA:358
HP:0010978	Abnormality of immune system physiology	6559	SLC12A3	ORPHA:358
HP:0010978	Abnormality of immune system physiology	8036	SHOC2	OMIM:607721
HP:0010978	Abnormality of immune system physiology	2235	FECH	OMIM:177000
HP:0010978	Abnormality of immune system physiology	2235	FECH	ORPHA:79278
HP:0010978	Abnormality of immune system physiology	6016	RIT1	OMIM:615355
HP:0010978	Abnormality of immune system physiology	9759	HDAC4	ORPHA:1001
HP:0010978	Abnormality of immune system physiology	9759	HDAC4	OMIM:600430
HP:0010978	Abnormality of immune system physiology	5604	MAP2K1	ORPHA:389
HP:0010978	Abnormality of immune system physiology	3021	H3-3B	OMIM:619721
HP:0010978	Abnormality of immune system physiology	79644	SRD5A3	OMIM:612379
HP:0010978	Abnormality of immune system physiology	5053	PAH	OMIM:261600
HP:0010978	Abnormality of immune system physiology	5053	PAH	ORPHA:79254
HP:0010978	Abnormality of immune system physiology	7175	TPR	OMIM:620393
HP:0010978	Abnormality of immune system physiology	1896	EDA	OMIM:305100
HP:0010978	Abnormality of immune system physiology	7780	SLC30A2	OMIM:608118
HP:0010978	Abnormality of immune system physiology	3141	HLCS	ORPHA:79242
HP:0010978	Abnormality of immune system physiology	6821	SUOX	OMIM:272300
HP:0010978	Abnormality of immune system physiology	26053	AUTS2	ORPHA:352490
HP:0010978	Abnormality of immune system physiology	267010	RNU12	ORPHA:85199
HP:0010978	Abnormality of immune system physiology	1474	CST6	OMIM:618535
HP:0010978	Abnormality of immune system physiology	126695	KDF1	OMIM:617337
HP:0010978	Abnormality of immune system physiology	126695	KDF1	ORPHA:1810
HP:0010978	Abnormality of immune system physiology	25914	RTTN	ORPHA:468631
HP:0010978	Abnormality of immune system physiology	79092	CARD14	ORPHA:2897
HP:0010978	Abnormality of immune system physiology	283209	PGM2L1	OMIM:620191
HP:0010978	Abnormality of immune system physiology	203190	LGI3	OMIM:620007
HP:0010978	Abnormality of immune system physiology	9526	MPDU1	ORPHA:79323
HP:0010978	Abnormality of immune system physiology	55181	SMG8	OMIM:619268
HP:0010978	Abnormality of immune system physiology	8216	LZTR1	OMIM:605275
HP:0010978	Abnormality of immune system physiology	7189	TRAF6	ORPHA:1810
HP:0010978	Abnormality of immune system physiology	10913	EDAR	ORPHA:1810
HP:0010978	Abnormality of immune system physiology	58484	NLRC4	OMIM:616050
HP:0010978	Abnormality of immune system physiology	7010	TEK	ORPHA:1059
HP:0010978	Abnormality of immune system physiology	23152	CIC	OMIM:617600
HP:0010978	Abnormality of immune system physiology	2697	GJA1	ORPHA:317
HP:0010978	Abnormality of immune system physiology	2707	GJB3	ORPHA:317
HP:0010978	Abnormality of immune system physiology	2531	KDSR	ORPHA:317
HP:0010978	Abnormality of immune system physiology	127534	GJB4	ORPHA:317
HP:0010978	Abnormality of immune system physiology	2243	FGA	OMIM:105200
HP:0010978	Abnormality of immune system physiology	55739	NAXD	OMIM:618321
HP:0010978	Abnormality of immune system physiology	6389	SDHA	ORPHA:44890
HP:0010978	Abnormality of immune system physiology	340024	SLC6A19	ORPHA:2116
HP:0010978	Abnormality of immune system physiology	57393	CLTRN	ORPHA:2116
HP:0010978	Abnormality of immune system physiology	9181	ARHGEF2	OMIM:617523
HP:0010978	Abnormality of immune system physiology	56916	SMARCAD1	ORPHA:1658
HP:0010978	Abnormality of immune system physiology	3858	KRT10	ORPHA:312
HP:0010978	Abnormality of immune system physiology	3858	KRT10	OMIM:620150
HP:0010978	Abnormality of immune system physiology	3858	KRT10	OMIM:620707
HP:0010978	Abnormality of immune system physiology	3858	KRT10	OMIM:609165
HP:0010978	Abnormality of immune system physiology	3848	KRT1	ORPHA:312
HP:0010978	Abnormality of immune system physiology	3848	KRT1	OMIM:113800
HP:0010978	Abnormality of immune system physiology	11012	KLK11	OMIM:620507
HP:0010978	Abnormality of immune system physiology	162	AP1B1	OMIM:242150
HP:0010978	Abnormality of immune system physiology	57609	DIP2B	OMIM:136630
HP:0010978	Abnormality of immune system physiology	4047	LSS	OMIM:618840
HP:0010978	Abnormality of immune system physiology	10682	EBP	OMIM:302960
HP:0010978	Abnormality of immune system physiology	10682	EBP	ORPHA:35173
HP:0010978	Abnormality of immune system physiology	204219	CERS3	OMIM:615023
HP:0010978	Abnormality of immune system physiology	204219	CERS3	ORPHA:79394
HP:0010978	Abnormality of immune system physiology	285848	PNPLA1	OMIM:615024
HP:0010978	Abnormality of immune system physiology	285848	PNPLA1	ORPHA:79394
HP:0010978	Abnormality of immune system physiology	2615	LRRC32	OMIM:619074
HP:0010978	Abnormality of immune system physiology	388698	FLG2	OMIM:618084
HP:0010978	Abnormality of immune system physiology	3735	KARS1	ORPHA:3240
HP:0010978	Abnormality of immune system physiology	22800	RRAS2	OMIM:618624
HP:0010978	Abnormality of immune system physiology	5498	PPOX	OMIM:620483
HP:0010978	Abnormality of immune system physiology	23102	TBC1D2B	ORPHA:397973
HP:0010978	Abnormality of immune system physiology	22880	MORC2	ORPHA:466768
HP:0010978	Abnormality of immune system physiology	79755	ZNF750	OMIM:610227
HP:0010978	Abnormality of immune system physiology	64087	MCCC2	OMIM:210210
HP:0010978	Abnormality of immune system physiology	2324	FLT4	ORPHA:79452
HP:0010978	Abnormality of immune system physiology	285	ANGPT2	ORPHA:79452
HP:0010978	Abnormality of immune system physiology	57165	GJC2	ORPHA:79452
HP:0010978	Abnormality of immune system physiology	374393	FAM111B	OMIM:615704
HP:0010978	Abnormality of immune system physiology	9563	H6PD	OMIM:604931
HP:0010978	Abnormality of immune system physiology	5566	PRKACA	OMIM:615830
HP:0010978	Abnormality of immune system physiology	54361	WNT4	ORPHA:247768
HP:0010978	Abnormality of immune system physiology	54361	WNT4	OMIM:158330
HP:0010978	Abnormality of immune system physiology	285590	SH3PXD2B	ORPHA:137834
HP:0010978	Abnormality of immune system physiology	285590	SH3PXD2B	OMIM:249420
HP:0010978	Abnormality of immune system physiology	3973	LHCGR	ORPHA:3000
HP:0010978	Abnormality of immune system physiology	9060	PAPSS2	OMIM:612847
HP:0010978	Abnormality of immune system physiology	83550	GPR101	ORPHA:963
HP:0010978	Abnormality of immune system physiology	9049	AIP	ORPHA:963
HP:0010978	Abnormality of immune system physiology	64131	XYLT1	ORPHA:370930
HP:0010978	Abnormality of immune system physiology	2099	ESR1	ORPHA:785
HP:0010978	Abnormality of immune system physiology	2099	ESR1	OMIM:615363
HP:0010978	Abnormality of immune system physiology	79798	ARMC5	ORPHA:189427
HP:0010978	Abnormality of immune system physiology	23028	KDM1A	ORPHA:189427
HP:0010978	Abnormality of immune system physiology	367	AR	ORPHA:99429
HP:0010978	Abnormality of immune system physiology	1584	CYP11B1	ORPHA:90795
HP:0010978	Abnormality of immune system physiology	2255	FGF10	ORPHA:2363
HP:0010978	Abnormality of immune system physiology	2296	FOXC1	ORPHA:250923
HP:0010978	Abnormality of immune system physiology	54765	TRIM44	ORPHA:250923
HP:0010978	Abnormality of immune system physiology	55699	IARS2	OMIM:616007
HP:0010978	Abnormality of immune system physiology	29926	GMPPA	ORPHA:869
HP:0010978	Abnormality of immune system physiology	8086	AAAS	ORPHA:869
HP:0010978	Abnormality of immune system physiology	2934	GSN	ORPHA:85448
HP:0010978	Abnormality of immune system physiology	4081	MAB21L1	OMIM:618479
HP:0010978	Abnormality of immune system physiology	4081	MAB21L1	ORPHA:495875
HP:0010978	Abnormality of immune system physiology	4547	MTTP	ORPHA:14
HP:0010978	Abnormality of immune system physiology	4069	LYZ	OMIM:620658
HP:0010978	Abnormality of immune system physiology	2200	FBN1	OMIM:616914
HP:0010978	Abnormality of immune system physiology	54820	NDE1	ORPHA:2177
HP:0010978	Abnormality of immune system physiology	596	BCL2	ORPHA:545
HP:0010978	Abnormality of immune system physiology	604	BCL6	ORPHA:545
HP:0010978	Abnormality of immune system physiology	732	C8B	OMIM:613789
HP:0010978	Abnormality of immune system physiology	81839	VANGL1	OMIM:600145
HP:0010978	Abnormality of immune system physiology	59335	PRDM12	OMIM:616488
HP:0010978	Abnormality of immune system physiology	11322	TMC6	ORPHA:302
HP:0010978	Abnormality of immune system physiology	10519	CIB1	ORPHA:302
HP:0010978	Abnormality of immune system physiology	113189	CHST14	OMIM:601776
HP:0010978	Abnormality of immune system physiology	113189	CHST14	ORPHA:2953
HP:0010978	Abnormality of immune system physiology	29940	DSE	ORPHA:2953
HP:0010978	Abnormality of immune system physiology	2050	EPHB4	ORPHA:90186
HP:0010978	Abnormality of immune system physiology	26258	BLOC1S6	OMIM:614171
HP:0010978	Abnormality of immune system physiology	8974	P4HA2	ORPHA:397
HP:0010978	Abnormality of immune system physiology	4094	MAF	ORPHA:1272
HP:0010978	Abnormality of immune system physiology	4094	MAF	OMIM:601088
HP:0010978	Abnormality of immune system physiology	3039	HBA1	ORPHA:163596
HP:0010978	Abnormality of immune system physiology	3040	HBA2	ORPHA:163596
HP:0010978	Abnormality of immune system physiology	875	CBS	ORPHA:394
HP:0010978	Abnormality of immune system physiology	875	CBS	OMIM:236200
HP:0010978	Abnormality of immune system physiology	593	BCKDHA	OMIM:248600
HP:0010978	Abnormality of immune system physiology	540	ATP7B	ORPHA:905
HP:0010978	Abnormality of immune system physiology	11330	CTRC	OMIM:167800
HP:0010978	Abnormality of immune system physiology	5645	PRSS2	OMIM:167800
HP:0010978	Abnormality of immune system physiology	5644	PRSS1	OMIM:167800
HP:0010978	Abnormality of immune system physiology	6690	SPINK1	OMIM:167800
HP:0010978	Abnormality of immune system physiology	79577	CDC73	ORPHA:143
HP:0010978	Abnormality of immune system physiology	79577	CDC73	ORPHA:99880
HP:0010978	Abnormality of immune system physiology	57104	PNPLA2	ORPHA:565612
HP:0010978	Abnormality of immune system physiology	4722	NDUFS3	OMIM:618230
HP:0010978	Abnormality of immune system physiology	63924	CIDEC	ORPHA:435651
HP:0010978	Abnormality of immune system physiology	50940	PDE11A	OMIM:610475
HP:0010978	Abnormality of immune system physiology	10273	STUB1	ORPHA:412057
HP:0010978	Abnormality of immune system physiology	133686	NADK2	ORPHA:431361
HP:0010978	Abnormality of immune system physiology	2538	G6PC1	OMIM:232200
HP:0010978	Abnormality of immune system physiology	26007	TKFC	OMIM:618805
HP:0010978	Abnormality of immune system physiology	5468	PPARG	ORPHA:79083
HP:0010978	Abnormality of immune system physiology	1175	AP2S1	OMIM:600740
HP:0010978	Abnormality of immune system physiology	9054	NFS1	OMIM:619386
HP:0010978	Abnormality of immune system physiology	64788	LMF1	OMIM:246650
HP:0010978	Abnormality of immune system physiology	344	APOC2	OMIM:207750
HP:0010978	Abnormality of immune system physiology	846	CASR	OMIM:145980
HP:0010978	Abnormality of immune system physiology	2767	GNA11	OMIM:145981
HP:0010978	Abnormality of immune system physiology	7388	UQCRH	OMIM:620137
HP:0010978	Abnormality of immune system physiology	338328	GPIHBP1	OMIM:615947
HP:0010978	Abnormality of immune system physiology	2313	FLI1	ORPHA:370348
HP:0010978	Abnormality of immune system physiology	90952	ESAM	OMIM:620371
HP:0010978	Abnormality of immune system physiology	3155	HMGCL	ORPHA:20
HP:0010978	Abnormality of immune system physiology	3712	IVD	ORPHA:33
HP:0010978	Abnormality of immune system physiology	286053	NSMCE2	OMIM:617253
HP:0010978	Abnormality of immune system physiology	26580	BSCL2	OMIM:269700
HP:0010978	Abnormality of immune system physiology	4023	LPL	OMIM:238600
HP:0010978	Abnormality of immune system physiology	348	APOE	ORPHA:412
HP:0010978	Abnormality of immune system physiology	10555	AGPAT2	OMIM:608594
HP:0010978	Abnormality of immune system physiology	22948	CCT5	OMIM:256840
HP:0010978	Abnormality of immune system physiology	22948	CCT5	ORPHA:139578
HP:0010978	Abnormality of immune system physiology	7879	RAB7A	OMIM:600882
HP:0010978	Abnormality of immune system physiology	4683	NBN	OMIM:251260
HP:0010978	Abnormality of immune system physiology	4683	NBN	ORPHA:647
HP:0010978	Abnormality of immune system physiology	22861	NLRP1	OMIM:617388
HP:0010978	Abnormality of immune system physiology	5294	PIK3CG	OMIM:619802
HP:0010978	Abnormality of immune system physiology	868	CBLB	OMIM:620430
HP:0010978	Abnormality of immune system physiology	139818	DOCK11	OMIM:301109
HP:0010978	Abnormality of immune system physiology	4733	DRG1	OMIM:620641
HP:0010978	Abnormality of immune system physiology	51311	TLR8	OMIM:301078
HP:0010978	Abnormality of immune system physiology	56984	PSMG2	OMIM:619183
HP:0010978	Abnormality of immune system physiology	10125	RASGRP1	OMIM:618534
HP:0010978	Abnormality of immune system physiology	51284	TLR7	OMIM:301080
HP:0010978	Abnormality of immune system physiology	56259	CTNNBL1	OMIM:619846
HP:0010978	Abnormality of immune system physiology	6609	SMPD1	ORPHA:77293
HP:0010978	Abnormality of immune system physiology	8651	SOCS1	OMIM:619375
HP:0010978	Abnormality of immune system physiology	2581	GALC	OMIM:245200
HP:0010978	Abnormality of immune system physiology	9138	ARHGEF1	OMIM:618459
HP:0010978	Abnormality of immune system physiology	8085	KMT2D	OMIM:147920
HP:0010978	Abnormality of immune system physiology	7403	KDM6A	OMIM:147920
HP:0010978	Abnormality of immune system physiology	57680	CHD8	OMIM:615032
HP:0010978	Abnormality of immune system physiology	5243	ABCB1	OMIM:612244
HP:0010978	Abnormality of immune system physiology	3257	HPS1	OMIM:203300
HP:0010978	Abnormality of immune system physiology	2165	F13B	ORPHA:331
HP:0010978	Abnormality of immune system physiology	2162	F13A1	ORPHA:331
HP:0010978	Abnormality of immune system physiology	345611	IRGM	OMIM:612278
HP:0010978	Abnormality of immune system physiology	2395	FXN	ORPHA:95
HP:0010978	Abnormality of immune system physiology	57190	SELENON	ORPHA:97244
HP:0010978	Abnormality of immune system physiology	58	ACTA1	ORPHA:97244
HP:0010978	Abnormality of immune system physiology	411	ARSB	OMIM:253200
HP:0010978	Abnormality of immune system physiology	10559	SLC35A1	ORPHA:238459
HP:0010978	Abnormality of immune system physiology	2188	FANCF	OMIM:603467
HP:0010978	Abnormality of immune system physiology	6445	SGCG	OMIM:253700
HP:0010978	Abnormality of immune system physiology	5277	PIGA	OMIM:300868
HP:0010978	Abnormality of immune system physiology	27019	DNAI1	OMIM:244400
HP:0010978	Abnormality of immune system physiology	4534	MTM1	ORPHA:596
HP:0010978	Abnormality of immune system physiology	7092	TLL1	ORPHA:99103
HP:0010978	Abnormality of immune system physiology	57057	TBX20	ORPHA:99103
HP:0010978	Abnormality of immune system physiology	4624	MYH6	ORPHA:99103
HP:0010978	Abnormality of immune system physiology	1482	NKX2-5	ORPHA:99103
HP:0010978	Abnormality of immune system physiology	70	ACTC1	ORPHA:99103
HP:0010978	Abnormality of immune system physiology	10370	CITED2	ORPHA:99103
HP:0010978	Abnormality of immune system physiology	2626	GATA4	ORPHA:99103
HP:0010978	Abnormality of immune system physiology	2627	GATA6	ORPHA:99103
HP:0010978	Abnormality of immune system physiology	28962	OSTM1	ORPHA:85179
HP:0010978	Abnormality of immune system physiology	64446	DNAI2	OMIM:612444
HP:0010978	Abnormality of immune system physiology	11128	POLR3A	OMIM:264090
HP:0010978	Abnormality of immune system physiology	629	CFB	OMIM:615561
HP:0010978	Abnormality of immune system physiology	5966	REL	OMIM:619652
HP:0010978	Abnormality of immune system physiology	6261	RYR1	ORPHA:98905
HP:0010978	Abnormality of immune system physiology	5903	RANBP2	OMIM:608033
HP:0010978	Abnormality of immune system physiology	37	ACADVL	ORPHA:26793
HP:0010978	Abnormality of immune system physiology	345643	MCIDAS	OMIM:618695
HP:0010978	Abnormality of immune system physiology	4054	LTBP3	OMIM:617809
HP:0010978	Abnormality of immune system physiology	2811	GP1BA	ORPHA:274
HP:0010978	Abnormality of immune system physiology	2815	GP9	ORPHA:274
HP:0010978	Abnormality of immune system physiology	91754	NEK9	OMIM:614262
HP:0010978	Abnormality of immune system physiology	240	ALOX5	OMIM:600807
HP:0010978	Abnormality of immune system physiology	6356	CCL11	OMIM:600807
HP:0010978	Abnormality of immune system physiology	7124	TNF	OMIM:600807
HP:0010978	Abnormality of immune system physiology	3176	HNMT	OMIM:600807
HP:0010978	Abnormality of immune system physiology	4589	MUC7	OMIM:600807
HP:0010978	Abnormality of immune system physiology	117156	SCGB3A2	OMIM:600807
HP:0010978	Abnormality of immune system physiology	3135	HLA-G	OMIM:600807
HP:0010978	Abnormality of immune system physiology	3596	IL13	OMIM:600807
HP:0010978	Abnormality of immune system physiology	90459	ERI1	OMIM:620663
HP:0010978	Abnormality of immune system physiology	79796	ALG9	OMIM:608776
HP:0010978	Abnormality of immune system physiology	79796	ALG9	ORPHA:79328
HP:0010978	Abnormality of immune system physiology	10999	SLC27A4	OMIM:608649
HP:0010978	Abnormality of immune system physiology	27125	AFF4	ORPHA:444077
HP:0010978	Abnormality of immune system physiology	9578	CDC42BPB	OMIM:619841
HP:0010978	Abnormality of immune system physiology	4010	LMX1B	ORPHA:495818
HP:0010978	Abnormality of immune system physiology	6812	STXBP1	ORPHA:495818
HP:0010978	Abnormality of immune system physiology	2782	GNB1	OMIM:616973
HP:0010978	Abnormality of immune system physiology	841	CASP8	OMIM:607271
HP:0010978	Abnormality of immune system physiology	4953	ODC1	ORPHA:544488
HP:0010978	Abnormality of immune system physiology	3716	JAK1	OMIM:618999
HP:0010978	Abnormality of immune system physiology	2260	FGFR1	ORPHA:280200
HP:0010978	Abnormality of immune system physiology	28514	DLL1	ORPHA:280200
HP:0010978	Abnormality of immune system physiology	2253	FGF8	ORPHA:280200
HP:0010978	Abnormality of immune system physiology	6496	SIX3	ORPHA:280200
HP:0010978	Abnormality of immune system physiology	7050	TGIF1	ORPHA:280200
HP:0010978	Abnormality of immune system physiology	4838	NODAL	ORPHA:280200
HP:0010978	Abnormality of immune system physiology	6469	SHH	ORPHA:280200
HP:0010978	Abnormality of immune system physiology	51684	SUFU	ORPHA:280200
HP:0010978	Abnormality of immune system physiology	7546	ZIC2	ORPHA:280200
HP:0010978	Abnormality of immune system physiology	2619	GAS1	ORPHA:280200
HP:0010978	Abnormality of immune system physiology	84976	DISP1	ORPHA:280200
HP:0010978	Abnormality of immune system physiology	2736	GLI2	ORPHA:280200
HP:0010978	Abnormality of immune system physiology	8928	FOXH1	ORPHA:280200
HP:0010978	Abnormality of immune system physiology	6997	CRIPTO	ORPHA:280200
HP:0010978	Abnormality of immune system physiology	5727	PTCH1	ORPHA:280200
HP:0010978	Abnormality of immune system physiology	50937	CDON	ORPHA:280200
HP:0010978	Abnormality of immune system physiology	7040	TGFB1	OMIM:219700
HP:0010978	Abnormality of immune system physiology	7040	TGFB1	ORPHA:586
HP:0010978	Abnormality of immune system physiology	57589	RIC1	OMIM:618761
HP:0010978	Abnormality of immune system physiology	84100	ARL6	OMIM:209900
HP:0010978	Abnormality of immune system physiology	84100	ARL6	ORPHA:110
HP:0010978	Abnormality of immune system physiology	79140	CCDC28B	OMIM:209900
HP:0010978	Abnormality of immune system physiology	582	BBS1	OMIM:209900
HP:0010978	Abnormality of immune system physiology	582	BBS1	ORPHA:110
HP:0010978	Abnormality of immune system physiology	7840	ALMS1	OMIM:203800
HP:0010978	Abnormality of immune system physiology	7080	NKX2-1	ORPHA:209905
HP:0010978	Abnormality of immune system physiology	7080	NKX2-1	OMIM:610978
HP:0010978	Abnormality of immune system physiology	146206	CARMIL2	OMIM:618131
HP:0010978	Abnormality of immune system physiology	2475	MTOR	ORPHA:457485
HP:0010978	Abnormality of immune system physiology	93627	TBCK	ORPHA:488632
HP:0010978	Abnormality of immune system physiology	2783	GNB2	OMIM:619503
HP:0010978	Abnormality of immune system physiology	6785	ELOVL4	OMIM:614457
HP:0010978	Abnormality of immune system physiology	84701	COX4I2	OMIM:612714
HP:0010978	Abnormality of immune system physiology	64864	RFX7	OMIM:620330
HP:0010978	Abnormality of immune system physiology	26160	IFT172	OMIM:619471
HP:0010978	Abnormality of immune system physiology	26160	IFT172	ORPHA:110
HP:0010978	Abnormality of immune system physiology	92482	BBIP1	ORPHA:110
HP:0010978	Abnormality of immune system physiology	80184	CEP290	ORPHA:110
HP:0010978	Abnormality of immune system physiology	11020	IFT27	ORPHA:110
HP:0010978	Abnormality of immune system physiology	49855	SCAPER	ORPHA:110
HP:0010978	Abnormality of immune system physiology	4867	NPHP1	ORPHA:110
HP:0010978	Abnormality of immune system physiology	51057	WDPCP	ORPHA:110
HP:0010978	Abnormality of immune system physiology	132320	SCLT1	ORPHA:110
HP:0010978	Abnormality of immune system physiology	27241	BBS9	ORPHA:110
HP:0010978	Abnormality of immune system physiology	84984	CEP19	ORPHA:110
HP:0010978	Abnormality of immune system physiology	22954	TRIM32	ORPHA:110
HP:0010978	Abnormality of immune system physiology	54903	MKS1	ORPHA:110
HP:0010978	Abnormality of immune system physiology	79738	BBS10	ORPHA:110
HP:0010978	Abnormality of immune system physiology	123016	TTC8	ORPHA:110
HP:0010978	Abnormality of immune system physiology	583	BBS2	ORPHA:110
HP:0010978	Abnormality of immune system physiology	585	BBS4	ORPHA:110
HP:0010978	Abnormality of immune system physiology	8195	MKKS	ORPHA:110
HP:0010978	Abnormality of immune system physiology	54585	LZTFL1	ORPHA:110
HP:0010978	Abnormality of immune system physiology	55212	BBS7	ORPHA:110
HP:0010978	Abnormality of immune system physiology	166379	BBS12	ORPHA:110
HP:0010978	Abnormality of immune system physiology	10806	SDCCAG8	ORPHA:110
HP:0010978	Abnormality of immune system physiology	157657	CFAP418	ORPHA:110
HP:0010978	Abnormality of immune system physiology	129880	BBS5	ORPHA:110
HP:0010978	Abnormality of immune system physiology	80173	IFT74	ORPHA:110
HP:0010978	Abnormality of immune system physiology	30009	TBX21	OMIM:619630
HP:0010978	Abnormality of immune system physiology	30009	TBX21	OMIM:208550
HP:0010978	Abnormality of immune system physiology	7874	USP7	ORPHA:500055
HP:0010978	Abnormality of immune system physiology	3572	IL6ST	OMIM:619752
HP:0010978	Abnormality of immune system physiology	3572	IL6ST	OMIM:619750
HP:0010978	Abnormality of immune system physiology	29775	CARD10	OMIM:619632
HP:0010978	Abnormality of immune system physiology	10526	IPO8	OMIM:619472
HP:0010978	Abnormality of immune system physiology	5732	PTGER2	OMIM:208550
HP:0010978	Abnormality of immune system physiology	6329	SCN4A	ORPHA:99735
HP:0010978	Abnormality of immune system physiology	415	ARSL	ORPHA:79345
HP:0010978	Abnormality of immune system physiology	2312	FLG	OMIM:146700
HP:0010978	Abnormality of immune system physiology	1041	CDSN	OMIM:270300
HP:0010978	Abnormality of immune system physiology	93986	FOXP2	ORPHA:251061
HP:0010978	Abnormality of immune system physiology	6804	STX1A	ORPHA:586
HP:0010978	Abnormality of immune system physiology	2947	GSTM3	ORPHA:586
HP:0010978	Abnormality of immune system physiology	2729	GCLC	ORPHA:586
HP:0010978	Abnormality of immune system physiology	1084	CEACAM3	ORPHA:586
HP:0010978	Abnormality of immune system physiology	6556	SLC11A1	ORPHA:586
HP:0010978	Abnormality of immune system physiology	51164	DCTN4	ORPHA:586
HP:0010978	Abnormality of immune system physiology	3783	KCNN4	ORPHA:586
HP:0010978	Abnormality of immune system physiology	1909	EDNRA	ORPHA:586
HP:0010978	Abnormality of immune system physiology	6550	SLC9A3	ORPHA:586
HP:0010978	Abnormality of immune system physiology	115019	SLC26A9	ORPHA:586
HP:0010978	Abnormality of immune system physiology	3077	HFE	ORPHA:586
HP:0010978	Abnormality of immune system physiology	11254	SLC6A14	ORPHA:586
HP:0010978	Abnormality of immune system physiology	5265	SERPINA1	ORPHA:586
HP:0010978	Abnormality of immune system physiology	22802	CLCA4	ORPHA:586
HP:0010978	Abnormality of immune system physiology	4680	CEACAM6	ORPHA:586
HP:0010978	Abnormality of immune system physiology	5971	RELB	OMIM:617585
HP:0010978	Abnormality of immune system physiology	10293	TRAIP	OMIM:616777
HP:0010978	Abnormality of immune system physiology	3481	IGF2	ORPHA:397590
HP:0010978	Abnormality of immune system physiology	1028	CDKN1C	ORPHA:397590
HP:0010978	Abnormality of immune system physiology	5324	PLAG1	ORPHA:397590
HP:0010978	Abnormality of immune system physiology	8091	HMGA2	ORPHA:397590
HP:0010978	Abnormality of immune system physiology	55717	WDR11	OMIM:620237
HP:0010978	Abnormality of immune system physiology	10551	AGR2	OMIM:620233
HP:0010978	Abnormality of immune system physiology	55898	UNC45A	OMIM:619377
HP:0010978	Abnormality of immune system physiology	79989	IFT56	OMIM:619534
HP:0010978	Abnormality of immune system physiology	3423	IDS	OMIM:309900
HP:0010978	Abnormality of immune system physiology	79977	GRHL2	OMIM:616029
HP:0010978	Abnormality of immune system physiology	2678	GGT1	OMIM:231950
HP:0010978	Abnormality of immune system physiology	738	VPS51	OMIM:618606
HP:0010978	Abnormality of immune system physiology	51322	WAC	ORPHA:466950
HP:0010978	Abnormality of immune system physiology	375056	MIA3	OMIM:619269
HP:0010978	Abnormality of immune system physiology	721	C4B	OMIM:614379
HP:0010978	Abnormality of immune system physiology	115948	ODAD3	OMIM:616037
HP:0010978	Abnormality of immune system physiology	6778	STAT6	OMIM:620532
HP:0010978	Abnormality of immune system physiology	5830	PEX5	OMIM:616716
HP:0010978	Abnormality of immune system physiology	4067	LYN	OMIM:620376
HP:0010978	Abnormality of immune system physiology	6888	TALDO1	OMIM:606003
HP:0010978	Abnormality of immune system physiology	9898	UBAP2L	OMIM:620494
HP:0010978	Abnormality of immune system physiology	535	ATP6V0A1	OMIM:619971
HP:0010978	Abnormality of immune system physiology	4281	MID1	ORPHA:2745
HP:0010978	Abnormality of immune system physiology	29957	SLC25A24	OMIM:612289
HP:0010978	Abnormality of immune system physiology	378884	NHLRC1	ORPHA:501
HP:0010978	Abnormality of immune system physiology	7957	EPM2A	ORPHA:501
HP:0010978	Abnormality of immune system physiology	4842	NOS1	ORPHA:930
HP:0010978	Abnormality of immune system physiology	353116	RILPL1	ORPHA:98897
HP:0010978	Abnormality of immune system physiology	10755	GIPC1	ORPHA:98897
HP:0010978	Abnormality of immune system physiology	29967	LRP12	ORPHA:98897
HP:0010978	Abnormality of immune system physiology	100996717	NOTCH2NLC	ORPHA:98897
HP:0010978	Abnormality of immune system physiology	5393	EXOSC9	OMIM:618065
HP:0010978	Abnormality of immune system physiology	8518	ELP1	ORPHA:1764
HP:0010978	Abnormality of immune system physiology	10054	UBA2	OMIM:619959
HP:0010978	Abnormality of immune system physiology	7360	UGP2	OMIM:618744
HP:0010978	Abnormality of immune system physiology	128178	EDARADD	OMIM:614941
HP:0010978	Abnormality of immune system physiology	79848	CSPP1	ORPHA:397715
HP:0010978	Abnormality of immune system physiology	9786	KIAA0586	ORPHA:397715
HP:0010978	Abnormality of immune system physiology	5354	PLP1	ORPHA:99015
HP:0010978	Abnormality of immune system physiology	249	ALPL	OMIM:241500
HP:0010978	Abnormality of immune system physiology	51506	UFC1	OMIM:618076
HP:0010978	Abnormality of immune system physiology	283489	CHAMP1	OMIM:616579
HP:0010978	Abnormality of immune system physiology	25782	RAB3GAP2	OMIM:212720
HP:0010978	Abnormality of immune system physiology	55768	NGLY1	ORPHA:404454
HP:0010978	Abnormality of immune system physiology	55768	NGLY1	OMIM:615273
HP:0010978	Abnormality of immune system physiology	9326	ZNHIT3	ORPHA:2836
HP:0010978	Abnormality of immune system physiology	64359	NXN	ORPHA:1507
HP:0010978	Abnormality of immune system physiology	4920	ROR2	ORPHA:1507
HP:0010978	Abnormality of immune system physiology	100303755	PET117	OMIM:619063
HP:0010978	Abnormality of immune system physiology	54872	PIGG	ORPHA:280
HP:0010978	Abnormality of immune system physiology	7469	NELFA	ORPHA:280
HP:0010978	Abnormality of immune system physiology	4633	MYL2	ORPHA:2020
HP:0010978	Abnormality of immune system physiology	3679	ITGA7	ORPHA:2020
HP:0010978	Abnormality of immune system physiology	7169	TPM2	ORPHA:2020
HP:0010978	Abnormality of immune system physiology	9200	HACD1	ORPHA:2020
HP:0010978	Abnormality of immune system physiology	7170	TPM3	ORPHA:2020
HP:0010978	Abnormality of immune system physiology	51776	MAP3K20	ORPHA:2020
HP:0010978	Abnormality of immune system physiology	2752	GLUL	OMIM:610015
HP:0010978	Abnormality of immune system physiology	175	AGA	ORPHA:93
HP:0010978	Abnormality of immune system physiology	175	AGA	OMIM:208400
HP:0010978	Abnormality of immune system physiology	113278	SLC52A3	OMIM:211530
HP:0010978	Abnormality of immune system physiology	330	BIRC3	ORPHA:52417
HP:0010978	Abnormality of immune system physiology	3492	IGH	ORPHA:52417
HP:0010978	Abnormality of immune system physiology	10043	TOM1	OMIM:619510
HP:0010978	Abnormality of immune system physiology	55773	TBC1D23	OMIM:617695
HP:0010978	Abnormality of immune system physiology	3675	ITGA3	OMIM:614748
HP:0010978	Abnormality of immune system physiology	4644	MYO5A	ORPHA:33445
HP:0010978	Abnormality of immune system physiology	9321	TRIP11	OMIM:184260
HP:0010978	Abnormality of immune system physiology	9772	TMEM94	OMIM:618316
HP:0010978	Abnormality of immune system physiology	9338	TCEAL1	OMIM:301094
HP:0010978	Abnormality of immune system physiology	6638	SNRPN	ORPHA:98754
HP:0010978	Abnormality of immune system physiology	6638	SNRPN	ORPHA:177904
HP:0010978	Abnormality of immune system physiology	6638	SNRPN	ORPHA:177901
HP:0010978	Abnormality of immune system physiology	6638	SNRPN	ORPHA:177907
HP:0010978	Abnormality of immune system physiology	4692	NDN	ORPHA:98754
HP:0010978	Abnormality of immune system physiology	4692	NDN	ORPHA:177904
HP:0010978	Abnormality of immune system physiology	4692	NDN	ORPHA:177901
HP:0010978	Abnormality of immune system physiology	54551	MAGEL2	ORPHA:98754
HP:0010978	Abnormality of immune system physiology	54551	MAGEL2	OMIM:176270
HP:0010978	Abnormality of immune system physiology	54551	MAGEL2	ORPHA:177904
HP:0010978	Abnormality of immune system physiology	54551	MAGEL2	ORPHA:177901
HP:0010978	Abnormality of immune system physiology	54551	MAGEL2	ORPHA:398069
HP:0010978	Abnormality of immune system physiology	4948	OCA2	ORPHA:98754
HP:0010978	Abnormality of immune system physiology	4948	OCA2	ORPHA:177904
HP:0010978	Abnormality of immune system physiology	4948	OCA2	ORPHA:177901
HP:0010978	Abnormality of immune system physiology	8242	KDM5C	OMIM:300534
HP:0010978	Abnormality of immune system physiology	197258	FCSK	OMIM:618324
HP:0010978	Abnormality of immune system physiology	23219	FBXO28	OMIM:619777
HP:0010978	Abnormality of immune system physiology	6509	SLC1A4	ORPHA:447997
HP:0010978	Abnormality of immune system physiology	2000	ELF4	OMIM:301074
HP:0010978	Abnormality of immune system physiology	51053	GMNN	OMIM:616835
HP:0010978	Abnormality of immune system physiology	7319	UBE2A	ORPHA:163956
HP:0010978	Abnormality of immune system physiology	5062	PAK2	OMIM:618458
HP:0010978	Abnormality of immune system physiology	1828	DSG1	OMIM:615508
HP:0010978	Abnormality of immune system physiology	6792	CDKL5	ORPHA:1934
HP:0010978	Abnormality of immune system physiology	3736	KCNA1	ORPHA:1934
HP:0010978	Abnormality of immune system physiology	9091	PIGQ	ORPHA:1934
HP:0010978	Abnormality of immune system physiology	140679	SLC32A1	ORPHA:1934
HP:0010978	Abnormality of immune system physiology	2775	GNAO1	ORPHA:1934
HP:0010978	Abnormality of immune system physiology	81603	TRIM8	ORPHA:1934
HP:0010978	Abnormality of immune system physiology	2902	GRIN1	ORPHA:1934
HP:0010978	Abnormality of immune system physiology	79751	SLC25A22	ORPHA:1934
HP:0010978	Abnormality of immune system physiology	150094	SIK1	ORPHA:1934
HP:0010978	Abnormality of immune system physiology	8573	CASK	ORPHA:1934
HP:0010978	Abnormality of immune system physiology	23312	DMXL2	ORPHA:1934
HP:0010978	Abnormality of immune system physiology	170302	ARX	ORPHA:1934
HP:0010978	Abnormality of immune system physiology	11284	PNKP	ORPHA:1934
HP:0010978	Abnormality of immune system physiology	6326	SCN2A	ORPHA:1934
HP:0010978	Abnormality of immune system physiology	51227	PIGP	ORPHA:1934
HP:0010978	Abnormality of immune system physiology	6324	SCN1B	ORPHA:1934
HP:0010978	Abnormality of immune system physiology	4761	NEUROD2	ORPHA:1934
HP:0010978	Abnormality of immune system physiology	89891	DYNC2I2	OMIM:615633
HP:0010978	Abnormality of immune system physiology	8818	DPM2	ORPHA:329178
HP:0010978	Abnormality of immune system physiology	4173	MCM4	OMIM:609981
HP:0010978	Abnormality of immune system physiology	100033413	SNORD116-1	OMIM:176270
HP:0010978	Abnormality of immune system physiology	8924	HERC2	OMIM:176270
HP:0010978	Abnormality of immune system physiology	23742	NPAP1	OMIM:176270
HP:0010978	Abnormality of immune system physiology	338433	SNORD115-1	OMIM:176270
HP:0010978	Abnormality of immune system physiology	7681	MKRN3	OMIM:176270
HP:0010978	Abnormality of immune system physiology	145624	PWAR1	OMIM:176270
HP:0010978	Abnormality of immune system physiology	3653	IPW	OMIM:176270
HP:0010978	Abnormality of immune system physiology	791114	PWRN1	OMIM:176270
HP:0010978	Abnormality of immune system physiology	7372	UMPS	ORPHA:30
HP:0010978	Abnormality of immune system physiology	23114	NFASC	OMIM:618356
HP:0010978	Abnormality of immune system physiology	6606	SMN1	OMIM:253550
HP:0010978	Abnormality of immune system physiology	6606	SMN1	OMIM:253300
HP:0010978	Abnormality of immune system physiology	54014	BRWD1	OMIM:620438
HP:0010978	Abnormality of immune system physiology	83479	DDX59	OMIM:174300
HP:0010978	Abnormality of immune system physiology	6492	SIM1	ORPHA:398079
HP:0010978	Abnormality of immune system physiology	59067	IL21	OMIM:615767
HP:0010978	Abnormality of immune system physiology	7248	TSC1	ORPHA:538
HP:0010978	Abnormality of immune system physiology	7249	TSC2	ORPHA:538
HP:0010978	Abnormality of immune system physiology	427	ASAH1	OMIM:159950
HP:0010978	Abnormality of immune system physiology	4621	MYH3	OMIM:193700
HP:0010978	Abnormality of immune system physiology	6335	SCN9A	ORPHA:90026
HP:0010978	Abnormality of immune system physiology	11280	SCN11A	ORPHA:90026
HP:0010978	Abnormality of immune system physiology	6336	SCN10A	ORPHA:90026
HP:0010978	Abnormality of immune system physiology	55764	IFT122	OMIM:218330
HP:0010978	Abnormality of immune system physiology	7703	PCGF2	OMIM:618371
HP:0010978	Abnormality of immune system physiology	774	CACNA1B	OMIM:618497
HP:0010978	Abnormality of immune system physiology	7161	TP73	OMIM:619466
HP:0010978	Abnormality of immune system physiology	254428	SLC41A1	OMIM:619468
HP:0010978	Abnormality of immune system physiology	51300	TIMMDC1	OMIM:618251
HP:0010978	Abnormality of immune system physiology	8802	SUCLG1	ORPHA:17
HP:0010978	Abnormality of immune system physiology	2517	FUCA1	OMIM:230000
HP:0010978	Abnormality of immune system physiology	2548	GAA	OMIM:232300
HP:0010978	Abnormality of immune system physiology	84665	MYPN	ORPHA:75249
HP:0010978	Abnormality of immune system physiology	2318	FLNC	ORPHA:75249
HP:0010978	Abnormality of immune system physiology	7139	TNNT2	ORPHA:75249
HP:0010978	Abnormality of immune system physiology	7137	TNNI3	ORPHA:75249
HP:0010978	Abnormality of immune system physiology	10112	KIF20A	ORPHA:75249
HP:0010978	Abnormality of immune system physiology	1836	SLC26A2	ORPHA:628
HP:0010978	Abnormality of immune system physiology	3636	INPPL1	OMIM:258480
HP:0010978	Abnormality of immune system physiology	3636	INPPL1	ORPHA:2746
HP:0010978	Abnormality of immune system physiology	2077	ERF	OMIM:617180
HP:0010978	Abnormality of immune system physiology	55617	TASP1	OMIM:618950
HP:0010978	Abnormality of immune system physiology	8239	USP9X	OMIM:300968
HP:0010978	Abnormality of immune system physiology	51124	IER3IP1	OMIM:614231
HP:0010978	Abnormality of immune system physiology	57477	SHROOM4	ORPHA:85288
HP:0010978	Abnormality of immune system physiology	84340	GFM2	OMIM:618397
HP:0010978	Abnormality of immune system physiology	6911	TBX6	ORPHA:1797
HP:0010978	Abnormality of immune system physiology	2890	GRIA1	OMIM:619927
HP:0010978	Abnormality of immune system physiology	60482	SLC5A7	ORPHA:98914
HP:0010978	Abnormality of immune system physiology	4649	MYO9A	ORPHA:98914
HP:0010978	Abnormality of immune system physiology	1305	COL13A1	ORPHA:98914
HP:0010978	Abnormality of immune system physiology	1103	CHAT	ORPHA:98914
HP:0010978	Abnormality of immune system physiology	6576	SLC25A1	ORPHA:98914
HP:0010978	Abnormality of immune system physiology	6843	VAMP1	ORPHA:98914
HP:0010978	Abnormality of immune system physiology	375790	AGRN	ORPHA:98914
HP:0010978	Abnormality of immune system physiology	127833	SYT2	ORPHA:98914
HP:0010978	Abnormality of immune system physiology	6572	SLC18A3	ORPHA:98914
HP:0010978	Abnormality of immune system physiology	6616	SNAP25	ORPHA:98914
HP:0010978	Abnormality of immune system physiology	1893	ECM1	ORPHA:530
HP:0010978	Abnormality of immune system physiology	925	CD8A	OMIM:608957
HP:0010978	Abnormality of immune system physiology	9895	TECPR2	ORPHA:320385
HP:0010978	Abnormality of immune system physiology	5116	PCNT	ORPHA:2637
HP:0010978	Abnormality of immune system physiology	5430	POLR2A	OMIM:618603
HP:0010978	Abnormality of immune system physiology	23522	KAT6B	ORPHA:3047
HP:0010978	Abnormality of immune system physiology	26123	TCTN3	ORPHA:2753
HP:0010978	Abnormality of immune system physiology	9897	WASHC5	ORPHA:7
HP:0010978	Abnormality of immune system physiology	28952	CCDC22	ORPHA:7
HP:0010978	Abnormality of immune system physiology	57020	VPS35L	ORPHA:7
HP:0010978	Abnormality of immune system physiology	56896	DPYSL5	ORPHA:7
HP:0010978	Abnormality of immune system physiology	129285	PPP1R21	OMIM:619383
HP:0010978	Abnormality of immune system physiology	6892	TAPBP	OMIM:620814
HP:0010978	Abnormality of immune system physiology	406932	MIR140	OMIM:618618
HP:0010978	Abnormality of immune system physiology	6891	TAP2	OMIM:620813
HP:0010978	Abnormality of immune system physiology	25871	NEPRO	OMIM:618853
HP:0010978	Abnormality of immune system physiology	9325	TRIP4	ORPHA:486815
HP:0010978	Abnormality of immune system physiology	54968	TMEM70	ORPHA:1194
HP:0010978	Abnormality of immune system physiology	79944	L2HGDH	ORPHA:79314
HP:0010978	Abnormality of immune system physiology	2153	F5	ORPHA:131
HP:0010978	Abnormality of immune system physiology	23607	CD2AP	ORPHA:656
HP:0010978	Abnormality of immune system physiology	9688	NUP93	ORPHA:656
HP:0010978	Abnormality of immune system physiology	4643	MYO1E	ORPHA:656
HP:0010978	Abnormality of immune system physiology	64423	INF2	ORPHA:656
HP:0010978	Abnormality of immune system physiology	26130	GAPVD1	ORPHA:656
HP:0010978	Abnormality of immune system physiology	7490	WT1	ORPHA:656
HP:0010978	Abnormality of immune system physiology	51479	ANKFY1	ORPHA:656
HP:0010978	Abnormality of immune system physiology	54443	ANLN	ORPHA:656
HP:0010978	Abnormality of immune system physiology	5800	PTPRO	ORPHA:656
HP:0010978	Abnormality of immune system physiology	286204	CRB2	ORPHA:656
HP:0010978	Abnormality of immune system physiology	23165	NUP205	ORPHA:656
HP:0010978	Abnormality of immune system physiology	2013	EMP2	ORPHA:656
HP:0010978	Abnormality of immune system physiology	79023	NUP37	ORPHA:656
HP:0010978	Abnormality of immune system physiology	51196	PLCE1	ORPHA:656
HP:0010978	Abnormality of immune system physiology	79902	NUP85	ORPHA:656
HP:0010978	Abnormality of immune system physiology	396	ARHGDIA	ORPHA:656
HP:0010978	Abnormality of immune system physiology	79934	COQ8B	ORPHA:656
HP:0010978	Abnormality of immune system physiology	23279	NUP160	ORPHA:656
HP:0010978	Abnormality of immune system physiology	9863	MAGI2	ORPHA:656
HP:0010978	Abnormality of immune system physiology	81	ACTN4	ORPHA:656
HP:0010978	Abnormality of immune system physiology	7225	TRPC6	ORPHA:656
HP:0010978	Abnormality of immune system physiology	8542	APOL1	ORPHA:656
HP:0010978	Abnormality of immune system physiology	54885	TBC1D8B	ORPHA:656
HP:0010978	Abnormality of immune system physiology	7827	NPHS2	ORPHA:656
HP:0010978	Abnormality of immune system physiology	83478	ARHGAP24	ORPHA:656
HP:0010978	Abnormality of immune system physiology	23500	DAAM2	ORPHA:656
HP:0010978	Abnormality of immune system physiology	5076	PAX2	ORPHA:656
HP:0010978	Abnormality of immune system physiology	23314	SATB2	ORPHA:576283
HP:0010978	Abnormality of immune system physiology	9968	MED12	OMIM:301068
HP:0010978	Abnormality of immune system physiology	51256	TBC1D7	OMIM:248000
HP:0010978	Abnormality of immune system physiology	3117	HLA-DQA1	OMIM:212750
HP:0010978	Abnormality of immune system physiology	10847	SRCAP	OMIM:136140
HP:0010978	Abnormality of immune system physiology	10847	SRCAP	ORPHA:2044
HP:0010978	Abnormality of immune system physiology	29998	BICRA	OMIM:619325
HP:0010978	Abnormality of immune system physiology	2006	ELN	OMIM:194050
HP:0010978	Abnormality of immune system physiology	51085	MLXIPL	OMIM:194050
HP:0010978	Abnormality of immune system physiology	22806	IKZF3	OMIM:619437
HP:0010978	Abnormality of immune system physiology	3075	CFH	OMIM:609814
HP:0010978	Abnormality of immune system physiology	9020	MAP3K14	OMIM:620449
HP:0010978	Abnormality of immune system physiology	1675	CFD	OMIM:613912
HP:0010978	Abnormality of immune system physiology	10456	HAX1	OMIM:610738
HP:0010978	Abnormality of immune system physiology	3689	ITGB2	OMIM:116920
HP:0010978	Abnormality of immune system physiology	27183	VPS4A	OMIM:619273
HP:0010978	Abnormality of immune system physiology	7528	YY1	ORPHA:506358
HP:0010978	Abnormality of immune system physiology	7528	YY1	OMIM:617557
HP:0010978	Abnormality of immune system physiology	26960	NBEA	OMIM:619157
HP:0010978	Abnormality of immune system physiology	3071	NCKAP1L	OMIM:618982
HP:0010978	Abnormality of immune system physiology	26235	FBXL4	OMIM:615471
HP:0010978	Abnormality of immune system physiology	8367	H4C5	OMIM:619950
HP:0010978	Abnormality of immune system physiology	4598	MVK	OMIM:260920
HP:0010978	Abnormality of immune system physiology	4598	MVK	OMIM:610377
HP:0010978	Abnormality of immune system physiology	6777	STAT5B	OMIM:618985
HP:0010978	Abnormality of immune system physiology	8854	ALDH1A2	OMIM:620025
HP:0010978	Abnormality of immune system physiology	2316	FLNA	ORPHA:99811
HP:0010978	Abnormality of immune system physiology	2316	FLNA	OMIM:300049
HP:0010978	Abnormality of immune system physiology	7018	TF	ORPHA:1195
HP:0010978	Abnormality of immune system physiology	80816	ASXL3	OMIM:615485
HP:0010978	Abnormality of immune system physiology	89910	UBE3B	OMIM:244450
HP:0010978	Abnormality of immune system physiology	55788	LMBRD1	OMIM:277380
HP:0010978	Abnormality of immune system physiology	55788	LMBRD1	ORPHA:79284
HP:0010978	Abnormality of immune system physiology	1717	DHCR7	ORPHA:818
HP:0010978	Abnormality of immune system physiology	9382	COG1	OMIM:611209
HP:0010978	Abnormality of immune system physiology	4868	NPHS1	OMIM:256300
HP:0010978	Abnormality of immune system physiology	9739	SETD1A	OMIM:619056
HP:0010978	Abnormality of immune system physiology	80204	FBXO11	OMIM:618089
HP:0010978	Abnormality of immune system physiology	340061	STING1	OMIM:615934
HP:0010978	Abnormality of immune system physiology	8289	ARID1A	OMIM:614607
HP:0010978	Abnormality of immune system physiology	8289	ARID1A	ORPHA:1465
HP:0010978	Abnormality of immune system physiology	5777	PTPN6	ORPHA:3243
HP:0010978	Abnormality of immune system physiology	6598	SMARCB1	OMIM:614608
HP:0010978	Abnormality of immune system physiology	6598	SMARCB1	ORPHA:1465
HP:0010978	Abnormality of immune system physiology	6597	SMARCA4	OMIM:614609
HP:0010978	Abnormality of immune system physiology	6597	SMARCA4	ORPHA:1465
HP:0010978	Abnormality of immune system physiology	171023	ASXL1	ORPHA:97297
HP:0010978	Abnormality of immune system physiology	171023	ASXL1	OMIM:605039
HP:0010978	Abnormality of immune system physiology	9839	ZEB2	ORPHA:261552
HP:0010978	Abnormality of immune system physiology	9839	ZEB2	ORPHA:261537
HP:0010978	Abnormality of immune system physiology	64919	BCL11B	OMIM:618092
HP:0010978	Abnormality of immune system physiology	1656	DDX6	OMIM:618653
HP:0010978	Abnormality of immune system physiology	7156	TOP3A	OMIM:618097
HP:0010978	Abnormality of immune system physiology	79813	EHMT1	OMIM:610253
HP:0010978	Abnormality of immune system physiology	79813	EHMT1	ORPHA:261652
HP:0010978	Abnormality of immune system physiology	26057	ANKRD17	OMIM:619504
HP:0010978	Abnormality of immune system physiology	55361	PI4K2A	OMIM:620732
HP:0010978	Abnormality of immune system physiology	84947	SERAC1	OMIM:614739
HP:0010978	Abnormality of immune system physiology	10522	DEAF1	OMIM:615828
HP:0010978	Abnormality of immune system physiology	10522	DEAF1	ORPHA:468620
HP:0010978	Abnormality of immune system physiology	729230	CCR2	OMIM:219600
HP:0010978	Abnormality of immune system physiology	54888	NSUN2	ORPHA:235
HP:0010978	Abnormality of immune system physiology	8493	PPM1D	OMIM:617450
HP:0010978	Abnormality of immune system physiology	6135	RPL11	OMIM:612562
HP:0010978	Abnormality of immune system physiology	51692	CPSF3	OMIM:619876
HP:0010978	Abnormality of immune system physiology	6134	RPL10	ORPHA:459070
HP:0010978	Abnormality of immune system physiology	6134	RPL10	OMIM:300998
HP:0010978	Abnormality of immune system physiology	6134	RPL10	ORPHA:435938
HP:0010978	Abnormality of immune system physiology	83475	DOHH	OMIM:620066
HP:0010978	Abnormality of immune system physiology	1859	DYRK1A	ORPHA:464311
HP:0010978	Abnormality of immune system physiology	1859	DYRK1A	OMIM:614104
HP:0010978	Abnormality of immune system physiology	55719	SLF2	OMIM:620184
HP:0010978	Abnormality of immune system physiology	92667	MGME1	ORPHA:352447
HP:0010978	Abnormality of immune system physiology	92667	MGME1	OMIM:615084
HP:0010978	Abnormality of immune system physiology	58508	KMT2C	ORPHA:261652
HP:0010978	Abnormality of immune system physiology	11311	VPS45	OMIM:615285
HP:0010978	Abnormality of immune system physiology	54487	DGCR8	OMIM:192430
HP:0010978	Abnormality of immune system physiology	8214	DGCR6	OMIM:192430
HP:0010978	Abnormality of immune system physiology	8220	ESS2	OMIM:192430
HP:0010978	Abnormality of immune system physiology	9993	DGCR2	OMIM:192430
HP:0010978	Abnormality of immune system physiology	6605	SMARCE1	OMIM:616938
HP:0010978	Abnormality of immune system physiology	6605	SMARCE1	ORPHA:1465
HP:0010978	Abnormality of immune system physiology	91949	COG7	ORPHA:79333
HP:0010978	Abnormality of immune system physiology	91949	COG7	OMIM:608779
HP:0010978	Abnormality of immune system physiology	55343	SLC35C1	ORPHA:99843
HP:0010978	Abnormality of immune system physiology	3978	LIG1	OMIM:619774
HP:0010978	Abnormality of immune system physiology	7355	SLC35A2	OMIM:300896
HP:0010978	Abnormality of immune system physiology	5692	PSMB4	OMIM:617591
HP:0010978	Abnormality of immune system physiology	64116	SLC39A8	ORPHA:468699
HP:0010978	Abnormality of immune system physiology	64116	SLC39A8	OMIM:616721
HP:0010978	Abnormality of immune system physiology	404672	GTF2H5	ORPHA:33364
HP:0010978	Abnormality of immune system physiology	404672	GTF2H5	OMIM:616395
HP:0010978	Abnormality of immune system physiology	833	CARS1	ORPHA:33364
HP:0010978	Abnormality of immune system physiology	7737	RNF113A	ORPHA:33364
HP:0010978	Abnormality of immune system physiology	7737	RNF113A	OMIM:300953
HP:0010978	Abnormality of immune system physiology	136647	MPLKIP	ORPHA:33364
HP:0010978	Abnormality of immune system physiology	6897	TARS1	ORPHA:33364
HP:0010978	Abnormality of immune system physiology	16	AARS1	ORPHA:33364
HP:0010978	Abnormality of immune system physiology	2071	ERCC3	ORPHA:33364
HP:0010978	Abnormality of immune system physiology	2961	GTF2E2	ORPHA:33364
HP:0010978	Abnormality of immune system physiology	10195	ALG3	ORPHA:79321
HP:0010978	Abnormality of immune system physiology	641	BLM	ORPHA:125
HP:0010978	Abnormality of immune system physiology	8295	TRRAP	OMIM:618454
HP:0010978	Abnormality of immune system physiology	81570	CLPB	OMIM:616271
HP:0010978	Abnormality of immune system physiology	3980	LIG3	OMIM:619780
HP:0010978	Abnormality of immune system physiology	5256	PHKA2	ORPHA:264580
HP:0010978	Abnormality of immune system physiology	5261	PHKG2	ORPHA:264580
HP:0010978	Abnormality of immune system physiology	284119	CAVIN1	OMIM:613327
HP:0010978	Abnormality of immune system physiology	78987	CRELD1	OMIM:620771
HP:0010978	Abnormality of immune system physiology	10159	ATP6AP2	OMIM:301045
HP:0010978	Abnormality of immune system physiology	1441	CSF3R	OMIM:617014
HP:0010978	Abnormality of immune system physiology	253738	EBF3	ORPHA:96148
HP:0010978	Abnormality of immune system physiology	85358	SHANK3	OMIM:606232
HP:0010978	Abnormality of immune system physiology	128869	PIGU	OMIM:618590
HP:0010978	Abnormality of immune system physiology	79868	ALG13	OMIM:300884
HP:0010978	Abnormality of immune system physiology	9948	WDR1	OMIM:150550
HP:0010978	Abnormality of immune system physiology	169792	GLIS3	OMIM:610199
HP:0010978	Abnormality of immune system physiology	8320	EOMES	ORPHA:171703
HP:0010978	Abnormality of immune system physiology	9837	GINS1	OMIM:617827
HP:0010978	Abnormality of immune system physiology	915	CD3D	ORPHA:169160
HP:0010978	Abnormality of immune system physiology	537	ATP6AP1	OMIM:300972
HP:0010978	Abnormality of immune system physiology	8260	NAA10	OMIM:300855
HP:0010978	Abnormality of immune system physiology	3643	INSR	OMIM:246200
HP:0010978	Abnormality of immune system physiology	3643	INSR	ORPHA:769
HP:0010978	Abnormality of immune system physiology	6659	SOX4	ORPHA:1465
HP:0010978	Abnormality of immune system physiology	5977	DPF2	ORPHA:1465
HP:0010978	Abnormality of immune system physiology	6601	SMARCC2	ORPHA:1465
HP:0010978	Abnormality of immune system physiology	6602	SMARCD1	ORPHA:1465
HP:0010978	Abnormality of immune system physiology	57492	ARID1B	ORPHA:1465
HP:0010978	Abnormality of immune system physiology	196528	ARID2	ORPHA:1465
HP:0010978	Abnormality of immune system physiology	6664	SOX11	ORPHA:1465
HP:0010978	Abnormality of immune system physiology	3376	IARS1	ORPHA:541423
HP:0010978	Abnormality of immune system physiology	2917	GRM7	OMIM:618922
HP:0010978	Abnormality of immune system physiology	5257	PHKB	ORPHA:79240
HP:0010978	Abnormality of immune system physiology	10095	ARPC1B	OMIM:617718
HP:0010978	Abnormality of immune system physiology	9361	LONP1	ORPHA:79243
HP:0010978	Abnormality of immune system physiology	5160	PDHA1	ORPHA:79243
HP:0010978	Abnormality of immune system physiology	5422	POLA1	OMIM:301030
HP:0010978	Abnormality of immune system physiology	25942	SIN3A	ORPHA:94065
HP:0010978	Abnormality of immune system physiology	3977	LIFR	OMIM:601559
HP:0010978	Abnormality of immune system physiology	4126	MANBA	OMIM:248510
HP:0010978	Abnormality of immune system physiology	55340	GIMAP5	OMIM:619463
HP:0010978	Abnormality of immune system physiology	57511	COG6	OMIM:614576
HP:0010978	Abnormality of immune system physiology	84818	IL17RC	ORPHA:1334
HP:0010978	Abnormality of immune system physiology	64581	CLEC7A	ORPHA:1334
HP:0010978	Abnormality of immune system physiology	23765	IL17RA	ORPHA:1334
HP:0010978	Abnormality of immune system physiology	10758	TRAF3IP2	ORPHA:1334
HP:0010978	Abnormality of immune system physiology	112744	IL17F	ORPHA:1334
HP:0010978	Abnormality of immune system physiology	9419	CRIPT	OMIM:615789
HP:0010978	Abnormality of immune system physiology	970	CD70	OMIM:618261
HP:0010978	Abnormality of immune system physiology	2892	GRIA3	ORPHA:364028
HP:0010978	Abnormality of immune system physiology	6711	SPTBN1	OMIM:619475
HP:0010978	Abnormality of immune system physiology	23568	ARL2BP	OMIM:615434
HP:0010978	Abnormality of immune system physiology	6513	SLC2A1	ORPHA:168577
HP:0010978	Abnormality of immune system physiology	7204	TRIO	OMIM:617061
HP:0010978	Abnormality of immune system physiology	7204	TRIO	ORPHA:476126
HP:0010978	Abnormality of immune system physiology	374354	NHLRC2	OMIM:618278
HP:0010978	Abnormality of immune system physiology	283989	TSEN54	ORPHA:2524
HP:0010978	Abnormality of immune system physiology	116461	TSEN15	ORPHA:2524
HP:0010978	Abnormality of immune system physiology	79042	TSEN34	ORPHA:2524
HP:0010978	Abnormality of immune system physiology	80746	TSEN2	ORPHA:2524
HP:0010978	Abnormality of immune system physiology	51091	SEPSECS	ORPHA:2524
HP:0010978	Abnormality of immune system physiology	84905	ZNF341	OMIM:618282
HP:0010978	Abnormality of immune system physiology	6651	SON	ORPHA:500150
HP:0010978	Abnormality of immune system physiology	84231	TRAF7	OMIM:618164
HP:0010978	Abnormality of immune system physiology	5970	RELA	OMIM:618287
HP:0010978	Abnormality of immune system physiology	8481	OFD1	OMIM:300804
HP:0010978	Abnormality of immune system physiology	2806	GOT2	OMIM:618721
HP:0010978	Abnormality of immune system physiology	5557	PRIM1	OMIM:620005
HP:0010978	Abnormality of immune system physiology	23389	MED13L	OMIM:616789
HP:0010978	Abnormality of immune system physiology	9757	KMT2B	OMIM:619934
HP:0010978	Abnormality of immune system physiology	5660	PSAP	ORPHA:206436
HP:0010978	Abnormality of immune system physiology	9451	EIF2AK3	ORPHA:1667
HP:0010978	Abnormality of immune system physiology	5965	RECQL	OMIM:620370
HP:0010978	Abnormality of immune system physiology	6850	SYK	OMIM:619381
HP:0010978	Abnormality of immune system physiology	4204	MECP2	OMIM:300260
HP:0010978	Abnormality of immune system physiology	1604	CD55	OMIM:226300
HP:0010978	Abnormality of immune system physiology	131669	UROC1	ORPHA:210128
HP:0010978	Abnormality of immune system physiology	5424	POLD1	OMIM:620836
HP:0010978	Abnormality of immune system physiology	8792	TNFRSF11A	OMIM:612301
HP:0010978	Abnormality of immune system physiology	51604	PIGT	ORPHA:369837
HP:0010978	Abnormality of immune system physiology	64170	CARD9	OMIM:212050
HP:0010978	Abnormality of immune system physiology	51750	RTEL1	OMIM:615190
HP:0010978	Abnormality of immune system physiology	51750	RTEL1	ORPHA:3322
HP:0010978	Abnormality of immune system physiology	3551	IKBKB	OMIM:615592
HP:0010978	Abnormality of immune system physiology	55388	MCM10	OMIM:619313
HP:0010978	Abnormality of immune system physiology	7293	TNFRSF4	OMIM:615593
HP:0010978	Abnormality of immune system physiology	331	XIAP	OMIM:300635
HP:0010978	Abnormality of immune system physiology	331	XIAP	OMIM:308240
HP:0010978	Abnormality of immune system physiology	331	XIAP	ORPHA:538934
HP:0010978	Abnormality of immune system physiology	4688	NCF2	OMIM:233710
HP:0010978	Abnormality of immune system physiology	3932	LCK	OMIM:615758
HP:0010978	Abnormality of immune system physiology	5293	PIK3CD	OMIM:615513
HP:0010978	Abnormality of immune system physiology	118429	ANTXR2	ORPHA:2176
HP:0010978	Abnormality of immune system physiology	987	LRBA	OMIM:614700
HP:0010978	Abnormality of immune system physiology	7518	XRCC4	ORPHA:99812
HP:0010978	Abnormality of immune system physiology	7518	XRCC4	OMIM:616541
HP:0010978	Abnormality of immune system physiology	3981	LIG4	ORPHA:99812
HP:0010978	Abnormality of immune system physiology	79083	MLPH	OMIM:609227
HP:0010978	Abnormality of immune system physiology	1736	DKC1	OMIM:305000
HP:0010978	Abnormality of immune system physiology	1736	DKC1	ORPHA:3322
HP:0010978	Abnormality of immune system physiology	9094	UNC119	OMIM:615518
HP:0010978	Abnormality of immune system physiology	959	CD40LG	OMIM:308230
HP:0010978	Abnormality of immune system physiology	113235	SLC46A1	ORPHA:90045
HP:0010978	Abnormality of immune system physiology	4125	MAN2B1	ORPHA:309282
HP:0010978	Abnormality of immune system physiology	4125	MAN2B1	ORPHA:309288
HP:0010978	Abnormality of immune system physiology	57379	AICDA	OMIM:605258
HP:0010978	Abnormality of immune system physiology	9051	PSTPIP1	OMIM:601979
HP:0010978	Abnormality of immune system physiology	613	BCR	ORPHA:261330
HP:0010978	Abnormality of immune system physiology	1399	CRKL	ORPHA:261330
HP:0010978	Abnormality of immune system physiology	5594	MAPK1	ORPHA:261330
HP:0010978	Abnormality of immune system physiology	11151	CORO1A	OMIM:615401
HP:0010978	Abnormality of immune system physiology	10525	HYOU1	OMIM:233600
HP:0010978	Abnormality of immune system physiology	166378	AFG2A	OMIM:616577
HP:0010978	Abnormality of immune system physiology	166378	AFG2A	ORPHA:457351
HP:0010978	Abnormality of immune system physiology	998	CDC42	OMIM:616737
HP:0010978	Abnormality of immune system physiology	998	CDC42	ORPHA:487796
HP:0010978	Abnormality of immune system physiology	51135	IRAK4	OMIM:607676
HP:0010978	Abnormality of immune system physiology	51135	IRAK4	ORPHA:70592
HP:0010978	Abnormality of immune system physiology	4068	SH2D1A	OMIM:308240
HP:0010978	Abnormality of immune system physiology	79840	NHEJ1	ORPHA:169079
HP:0010978	Abnormality of immune system physiology	134218	DNAJC21	ORPHA:811
HP:0010978	Abnormality of immune system physiology	79631	EFL1	ORPHA:811
HP:0010978	Abnormality of immune system physiology	51119	SBDS	ORPHA:811
HP:0010978	Abnormality of immune system physiology	8029	CUBN	ORPHA:35858
HP:0010978	Abnormality of immune system physiology	81693	AMN	ORPHA:35858
HP:0010978	Abnormality of immune system physiology	84196	USP48	ORPHA:96253
HP:0010978	Abnormality of immune system physiology	7157	TP53	ORPHA:96253
HP:0010978	Abnormality of immune system physiology	9101	USP8	ORPHA:96253
HP:0010978	Abnormality of immune system physiology	64072	CDH23	ORPHA:96253
HP:0010978	Abnormality of immune system physiology	2908	NR3C1	ORPHA:96253
HP:0010978	Abnormality of immune system physiology	673	BRAF	ORPHA:96253
HP:0010978	Abnormality of immune system physiology	546	ATRX	ORPHA:96253
HP:0010978	Abnormality of immune system physiology	546	ATRX	ORPHA:231401
HP:0010978	Abnormality of immune system physiology	51360	MBTPS2	ORPHA:2273
HP:0010978	Abnormality of immune system physiology	6772	STAT1	OMIM:614162
HP:0010978	Abnormality of immune system physiology	6772	STAT1	ORPHA:391487
HP:0010978	Abnormality of immune system physiology	6772	STAT1	OMIM:614892
HP:0010978	Abnormality of immune system physiology	84061	MAGT1	OMIM:300853
HP:0010978	Abnormality of immune system physiology	7037	TFRC	OMIM:616740
HP:0010978	Abnormality of immune system physiology	1493	CTLA4	OMIM:616100
HP:0010978	Abnormality of immune system physiology	1493	CTLA4	ORPHA:3162
HP:0010978	Abnormality of immune system physiology	84876	ORAI1	OMIM:612782
HP:0010978	Abnormality of immune system physiology	1503	CTPS1	OMIM:615897
HP:0010978	Abnormality of immune system physiology	6573	SLC19A1	OMIM:620603
HP:0010978	Abnormality of immune system physiology	3665	IRF7	OMIM:616345
HP:0010978	Abnormality of immune system physiology	10616	RBCK1	OMIM:615895
HP:0010978	Abnormality of immune system physiology	6786	STIM1	OMIM:612783
HP:0010978	Abnormality of immune system physiology	6499	SKIC2	OMIM:614602
HP:0010978	Abnormality of immune system physiology	6499	SKIC2	ORPHA:84064
HP:0010978	Abnormality of immune system physiology	5426	POLE	OMIM:615139
HP:0010978	Abnormality of immune system physiology	5426	POLE	OMIM:618336
HP:0010978	Abnormality of immune system physiology	84823	LMNB2	ORPHA:79087
HP:0010978	Abnormality of immune system physiology	5238	PGM3	OMIM:615816
HP:0010978	Abnormality of immune system physiology	3431	SP110	OMIM:235550
HP:0010978	Abnormality of immune system physiology	10092	ARPC5	OMIM:620565
HP:0010978	Abnormality of immune system physiology	1312	COMT	ORPHA:567
HP:0010978	Abnormality of immune system physiology	221037	JMJD1C	ORPHA:567
HP:0010978	Abnormality of immune system physiology	2812	GP1BB	ORPHA:567
HP:0010978	Abnormality of immune system physiology	6239	RREB1	ORPHA:567
HP:0010978	Abnormality of immune system physiology	7290	HIRA	ORPHA:567
HP:0010978	Abnormality of immune system physiology	9632	SEC24C	ORPHA:567
HP:0010978	Abnormality of immune system physiology	7353	UFD1	ORPHA:567
HP:0010978	Abnormality of immune system physiology	421	ARVCF	ORPHA:567
HP:0010978	Abnormality of immune system physiology	28956	LAMTOR2	ORPHA:90023
HP:0010978	Abnormality of immune system physiology	28956	LAMTOR2	OMIM:610798
HP:0010978	Abnormality of immune system physiology	1130	LYST	ORPHA:167
HP:0010978	Abnormality of immune system physiology	1130	LYST	ORPHA:352723
HP:0010978	Abnormality of immune system physiology	60	ACTB	ORPHA:79107
HP:0010978	Abnormality of immune system physiology	7374	UNG	OMIM:608106
HP:0010978	Abnormality of immune system physiology	958	CD40	OMIM:606843
HP:0010978	Abnormality of immune system physiology	1105	CHD1	OMIM:617682
HP:0010978	Abnormality of immune system physiology	1105	CHD1	ORPHA:529965
HP:0010978	Abnormality of immune system physiology	2624	GATA2	OMIM:614172
HP:0010978	Abnormality of immune system physiology	5631	PRPS1	OMIM:301835
HP:0010978	Abnormality of immune system physiology	3043	HBB	ORPHA:231249
HP:0010978	Abnormality of immune system physiology	3560	IL2RB	OMIM:618495
HP:0010978	Abnormality of immune system physiology	29128	UHRF1	ORPHA:2268
HP:0010978	Abnormality of immune system physiology	3070	HELLS	ORPHA:2268
HP:0010978	Abnormality of immune system physiology	1789	DNMT3B	ORPHA:2268
HP:0010978	Abnormality of immune system physiology	1789	DNMT3B	OMIM:242860
HP:0010978	Abnormality of immune system physiology	83879	CDCA7	ORPHA:2268
HP:0010978	Abnormality of immune system physiology	9841	ZBTB24	ORPHA:2268
HP:0010978	Abnormality of immune system physiology	9841	ZBTB24	OMIM:614069
HP:0010978	Abnormality of immune system physiology	90268	OTULIN	OMIM:619986
HP:0010978	Abnormality of immune system physiology	23495	TNFRSF13B	ORPHA:1572
HP:0010978	Abnormality of immune system physiology	4790	NFKB1	ORPHA:1572
HP:0010978	Abnormality of immune system physiology	4791	NFKB2	ORPHA:1572
HP:0010978	Abnormality of immune system physiology	115650	TNFRSF13C	ORPHA:1572
HP:0010978	Abnormality of immune system physiology	1380	CR2	ORPHA:1572
HP:0010978	Abnormality of immune system physiology	8742	TNFSF12	ORPHA:1572
HP:0010978	Abnormality of immune system physiology	930	CD19	ORPHA:1572
HP:0010978	Abnormality of immune system physiology	29851	ICOS	ORPHA:1572
HP:0010978	Abnormality of immune system physiology	29851	ICOS	OMIM:607594
HP:0010978	Abnormality of immune system physiology	931	MS4A1	ORPHA:1572
HP:0010978	Abnormality of immune system physiology	975	CD81	ORPHA:1572
HP:0010978	Abnormality of immune system physiology	359948	IRF2BP2	ORPHA:1572
HP:0010978	Abnormality of immune system physiology	653361	NCF1	OMIM:233700
HP:0010978	Abnormality of immune system physiology	7468	NSD2	OMIM:194190
HP:0010978	Abnormality of immune system physiology	10815	CPLX1	OMIM:194190
HP:0010978	Abnormality of immune system physiology	1487	CTBP1	OMIM:194190
HP:0010978	Abnormality of immune system physiology	53834	FGFRL1	OMIM:194190
HP:0010978	Abnormality of immune system physiology	3954	LETM1	OMIM:194190
HP:0010978	Abnormality of immune system physiology	2214	FCGR3A	OMIM:615707
HP:0010978	Abnormality of immune system physiology	91039	DPP9	OMIM:620331
HP:0010978	Abnormality of immune system physiology	5873	RAB27A	ORPHA:79477
HP:0010978	Abnormality of immune system physiology	8943	AP3D1	OMIM:617050
HP:0010978	Abnormality of immune system physiology	57003	CCDC47	OMIM:618268
HP:0010978	Abnormality of immune system physiology	23126	POGZ	OMIM:616364
HP:0010978	Abnormality of immune system physiology	4609	MYC	OMIM:113970
HP:0010978	Abnormality of immune system physiology	9636	ISG15	OMIM:616126
HP:0010978	Abnormality of immune system physiology	5295	PIK3R1	OMIM:616005
HP:0010978	Abnormality of immune system physiology	5295	PIK3R1	ORPHA:33110
HP:0010978	Abnormality of immune system physiology	7454	WAS	ORPHA:906
HP:0010978	Abnormality of immune system physiology	7456	WIPF1	ORPHA:906
HP:0010978	Abnormality of immune system physiology	6789	STK4	OMIM:614868
HP:0010978	Abnormality of immune system physiology	56052	ALG1	ORPHA:79327
HP:0010978	Abnormality of immune system physiology	472	ATM	ORPHA:100
HP:0010978	Abnormality of immune system physiology	8915	BCL10	OMIM:616098
HP:0010978	Abnormality of immune system physiology	374879	ZNF699	OMIM:619488
HP:0010978	Abnormality of immune system physiology	4780	NFE2L2	OMIM:617744
HP:0010978	Abnormality of immune system physiology	51816	ADA2	OMIM:615688
HP:0010978	Abnormality of immune system physiology	50615	IL21R	OMIM:615207
HP:0010978	Abnormality of immune system physiology	7297	TYK2	OMIM:611521
HP:0010978	Abnormality of immune system physiology	8450	CUL4B	ORPHA:85293
HP:0010978	Abnormality of immune system physiology	55072	RNF31	OMIM:620632
HP:0010978	Abnormality of immune system physiology	84433	CARD11	OMIM:615206
HP:0010978	Abnormality of immune system physiology	917	CD3G	OMIM:615607
HP:0010978	Abnormality of immune system physiology	5896	RAG1	ORPHA:231154
HP:0010978	Abnormality of immune system physiology	695	BTK	ORPHA:47
HP:0010978	Abnormality of immune system physiology	5880	RAC2	ORPHA:183707
HP:0010978	Abnormality of immune system physiology	57724	EPG5	OMIM:242840
HP:0010978	Abnormality of immune system physiology	23387	SIK3	OMIM:618162
HP:0010978	Abnormality of immune system physiology	940	CD28	ORPHA:3162
HP:0010978	Abnormality of immune system physiology	7133	TNFRSF1B	ORPHA:3162
HP:0010978	Abnormality of immune system physiology	3937	LCP2	OMIM:619374
HP:0010978	Abnormality of immune system physiology	27040	LAT	OMIM:617514
HP:0010978	Abnormality of immune system physiology	919	CD247	OMIM:610163
HP:0010978	Abnormality of immune system physiology	10625	IVNS1ABP	OMIM:618969
HP:0010978	Abnormality of immune system physiology	5297	PI4KA	ORPHA:436252
HP:0010978	Abnormality of immune system physiology	5297	PI4KA	OMIM:619708
HP:0010978	Abnormality of immune system physiology	57217	TTC7A	ORPHA:436252
HP:0010978	Abnormality of immune system physiology	916	CD3E	OMIM:615615
HP:0010978	Abnormality of immune system physiology	3459	IFNGR1	OMIM:615978
HP:0010978	Abnormality of immune system physiology	3460	IFNGR2	OMIM:614889
HP:0010978	Abnormality of immune system physiology	775	CACNA1C	OMIM:618447
HP:0010978	Abnormality of immune system physiology	1535	CYBA	OMIM:233690
HP:0010978	Abnormality of immune system physiology	3594	IL12RB1	ORPHA:319552
HP:0010978	Abnormality of immune system physiology	3594	IL12RB1	OMIM:614891
HP:0010978	Abnormality of immune system physiology	65057	ACD	ORPHA:3322
HP:0010978	Abnormality of immune system physiology	5073	PARN	ORPHA:3322
HP:0010978	Abnormality of immune system physiology	7015	TERT	ORPHA:3322
HP:0010978	Abnormality of immune system physiology	26277	TINF2	ORPHA:3322
HP:0010978	Abnormality of immune system physiology	29110	TBK1	OMIM:620880
HP:0010978	Abnormality of immune system physiology	29110	TBK1	ORPHA:1930
HP:0010978	Abnormality of immune system physiology	178	AGL	ORPHA:366
HP:0010978	Abnormality of immune system physiology	1536	CYBB	OMIM:306400
HP:0010978	Abnormality of immune system physiology	8456	FOXN1	ORPHA:169095
HP:0010978	Abnormality of immune system physiology	5699	PSMB10	OMIM:620807
HP:0010978	Abnormality of immune system physiology	3593	IL12B	OMIM:614890
HP:0010978	Abnormality of immune system physiology	10892	MALT1	OMIM:615468
HP:0010978	Abnormality of immune system physiology	9652	SKIC3	ORPHA:84064
HP:0010978	Abnormality of immune system physiology	4212	MEIS2	ORPHA:261190
HP:0010978	Abnormality of immune system physiology	165918	RNF168	OMIM:611943
HP:0010978	Abnormality of immune system physiology	165918	RNF168	ORPHA:420741
HP:0010978	Abnormality of immune system physiology	64858	DCLRE1B	OMIM:620133
HP:0010978	Abnormality of immune system physiology	3559	IL2RA	OMIM:606367
HP:0010978	Abnormality of immune system physiology	4594	MMUT	ORPHA:79312
HP:0010978	Abnormality of immune system physiology	6023	RMRP	OMIM:250460
HP:0010978	Abnormality of immune system physiology	6929	TCF3	ORPHA:33110
HP:0010978	Abnormality of immune system physiology	7922	SLC39A7	ORPHA:33110
HP:0010978	Abnormality of immune system physiology	973	CD79A	ORPHA:33110
HP:0010978	Abnormality of immune system physiology	974	CD79B	ORPHA:33110
HP:0010978	Abnormality of immune system physiology	6688	SPI1	ORPHA:33110
HP:0010978	Abnormality of immune system physiology	3543	IGLL1	ORPHA:33110
HP:0010978	Abnormality of immune system physiology	3507	IGHM	ORPHA:33110
HP:0010978	Abnormality of immune system physiology	29760	BLNK	ORPHA:33110
HP:0010978	Abnormality of immune system physiology	56262	LRRC8A	ORPHA:33110
HP:0010978	Abnormality of immune system physiology	7187	TRAF3	ORPHA:1930
HP:0010978	Abnormality of immune system physiology	81622	UNC93B1	ORPHA:1930
HP:0010978	Abnormality of immune system physiology	148022	TICAM1	ORPHA:1930
HP:0010978	Abnormality of immune system physiology	7098	TLR3	ORPHA:1930
HP:0010978	Abnormality of immune system physiology	8547	FCN3	OMIM:613860
HP:0010978	Abnormality of immune system physiology	2542	SLC37A4	OMIM:232240
HP:0010978	Abnormality of immune system physiology	731	C8A	OMIM:613790
HP:0010978	Abnormality of immune system physiology	10747	MASP2	OMIM:613791
HP:0010978	Abnormality of immune system physiology	6696	SPP1	ORPHA:93552
HP:0010978	Abnormality of immune system physiology	6303	SAT1	ORPHA:93552
HP:0010978	Abnormality of immune system physiology	3654	IRAK1	ORPHA:93552
HP:0010978	Abnormality of immune system physiology	718	C3	OMIM:613779
HP:0010978	Abnormality of immune system physiology	717	C2	OMIM:217000
HP:0010978	Abnormality of immune system physiology	1080	CFTR	ORPHA:498359
HP:0010978	Abnormality of immune system physiology	51428	DDX41	OMIM:616871
HP:0010978	Abnormality of immune system physiology	2212	FCGR2A	OMIM:152700
HP:0010978	Abnormality of immune system physiology	2213	FCGR2B	OMIM:152700
HP:0010978	Abnormality of immune system physiology	1773	DNASE1	OMIM:152700
HP:0010978	Abnormality of immune system physiology	5184	PEPD	OMIM:170100
HP:0010978	Abnormality of immune system physiology	10501	SEMA6B	OMIM:618876
HP:0010978	Abnormality of immune system physiology	25923	ATL3	OMIM:615632
HP:0010978	Abnormality of immune system physiology	25923	ATL3	ORPHA:36386
HP:0010978	Abnormality of immune system physiology	4803	NGF	OMIM:608654
HP:0010978	Abnormality of immune system physiology	6340	SCNN1G	ORPHA:171876
HP:0010978	Abnormality of immune system physiology	6337	SCNN1A	ORPHA:171876
HP:0010978	Abnormality of immune system physiology	6338	SCNN1B	ORPHA:171876
HP:0010978	Abnormality of immune system physiology	3557	IL1RN	OMIM:612852
HP:0010978	Abnormality of immune system physiology	1786	DNMT1	OMIM:614116
HP:0010978	Abnormality of immune system physiology	51062	ATL1	OMIM:613708
HP:0010978	Abnormality of immune system physiology	51062	ATL1	ORPHA:36386
HP:0010978	Abnormality of immune system physiology	10558	SPTLC1	OMIM:162400
HP:0010978	Abnormality of immune system physiology	10558	SPTLC1	ORPHA:36386
HP:0010978	Abnormality of immune system physiology	3554	IL1R1	OMIM:259680
HP:0010978	Abnormality of immune system physiology	28982	FLVCR1	ORPHA:88628
HP:0010978	Abnormality of immune system physiology	8218	CLTCL1	ORPHA:453510
HP:0010978	Abnormality of immune system physiology	54463	RETREG1	OMIM:613115
HP:0010978	Abnormality of immune system physiology	2019	EN1	OMIM:619218
HP:0010978	Abnormality of immune system physiology	3248	HPGD	ORPHA:2796
HP:0010978	Abnormality of immune system physiology	6578	SLCO2A1	ORPHA:2796
HP:0010978	Abnormality of immune system physiology	205327	C2orf69	OMIM:619423
HP:0010978	Abnormality of immune system physiology	5283	PIGH	OMIM:618010
HP:0010978	Abnormality of immune system physiology	9517	SPTLC2	OMIM:613640
HP:0010978	Abnormality of immune system physiology	9517	SPTLC2	ORPHA:36386
HP:0010978	Abnormality of immune system physiology	203859	ANO5	OMIM:166260
HP:0010978	Abnormality of immune system physiology	57282	SLC4A10	OMIM:620746
HP:0010978	Abnormality of immune system physiology	79912	PYROXD1	OMIM:617258
HP:0010978	Abnormality of immune system physiology	8021	NUP214	OMIM:618426
HP:0010978	Abnormality of immune system physiology	79759	ZNF668	OMIM:620194
HP:0010978	Abnormality of immune system physiology	6809	STX3	OMIM:619446
HP:0010978	Abnormality of immune system physiology	91869	RFT1	OMIM:612015
HP:0010978	Abnormality of immune system physiology	6662	SOX9	OMIM:114290
HP:0010978	Abnormality of immune system physiology	4718	NDUFC2	OMIM:619170
HP:0010978	Abnormality of immune system physiology	2530	FUT8	OMIM:618005
HP:0010978	Abnormality of immune system physiology	1292	COL6A2	OMIM:620727
HP:0010978	Abnormality of immune system physiology	50628	GEMIN4	OMIM:617913
HP:0010978	Abnormality of immune system physiology	4591	TRIM37	OMIM:253250
HP:0010978	Abnormality of immune system physiology	7407	VARS1	OMIM:617802
HP:0010978	Abnormality of immune system physiology	6448	SGSH	OMIM:252900
HP:0010978	Abnormality of immune system physiology	84320	ACBD6	OMIM:620785
HP:0010978	Abnormality of immune system physiology	3055	HCK	OMIM:620296
HP:0010978	Abnormality of immune system physiology	6050	RNH1	OMIM:620461
HP:0010978	Abnormality of immune system physiology	23247	KATNIP	OMIM:616784
HP:0010978	Abnormality of immune system physiology	138050	HGSNAT	OMIM:252930
HP:0010978	Abnormality of immune system physiology	4669	NAGLU	OMIM:252920
HP:0010978	Abnormality of immune system physiology	54808	DYM	ORPHA:239
HP:0010978	Abnormality of immune system physiology	686	BTD	ORPHA:79241
HP:0010978	Abnormality of immune system physiology	96459	FNIP1	OMIM:619705
HP:0010978	Abnormality of immune system physiology	6583	SLC22A4	OMIM:180300
HP:0010978	Abnormality of immune system physiology	51744	CD244	OMIM:180300
HP:0010978	Abnormality of immune system physiology	4795	NFKBIL1	OMIM:180300
HP:0010978	Abnormality of immune system physiology	8737	RIPK1	OMIM:618852
HP:0010978	Abnormality of immune system physiology	8838	CCN6	ORPHA:1159
HP:0010978	Abnormality of immune system physiology	5551	PRF1	ORPHA:540
HP:0010978	Abnormality of immune system physiology	8676	STX11	ORPHA:540
HP:0010978	Abnormality of immune system physiology	201294	UNC13D	ORPHA:540
HP:0010978	Abnormality of immune system physiology	6813	STXBP2	ORPHA:540
HP:0010978	Abnormality of immune system physiology	5336	PLCG2	OMIM:614878
HP:0010978	Abnormality of immune system physiology	3953	LEPR	OMIM:614963
HP:0010978	Abnormality of immune system physiology	54	ACP5	OMIM:607944
HP:0010978	Abnormality of immune system physiology	50943	FOXP3	OMIM:304790
HP:0010978	Abnormality of immune system physiology	100	ADA	ORPHA:277
HP:0010978	Abnormality of immune system physiology	100	ADA	ORPHA:39041
HP:0010978	Abnormality of immune system physiology	6399	TRAPPC2	ORPHA:93284
HP:0010978	Abnormality of immune system physiology	355	FAS	ORPHA:3261
HP:0010978	Abnormality of immune system physiology	356	FASLG	ORPHA:3261
HP:0010978	Abnormality of immune system physiology	843	CASP10	ORPHA:3261
HP:0010978	Abnormality of immune system physiology	64421	DCLRE1C	ORPHA:275
HP:0010978	Abnormality of immune system physiology	64421	DCLRE1C	ORPHA:39041
HP:0010978	Abnormality of immune system physiology	144811	LACC1	ORPHA:85414
HP:0010978	Abnormality of immune system physiology	4282	MIF	ORPHA:85414
HP:0010978	Abnormality of immune system physiology	3123	HLA-DRB1	ORPHA:85414
HP:0010978	Abnormality of immune system physiology	3123	HLA-DRB1	ORPHA:703
HP:0010978	Abnormality of immune system physiology	3123	HLA-DRB1	ORPHA:220402
HP:0010978	Abnormality of immune system physiology	3123	HLA-DRB1	ORPHA:220393
HP:0010978	Abnormality of immune system physiology	3569	IL6	ORPHA:85414
HP:0010978	Abnormality of immune system physiology	3569	IL6	OMIM:222100
HP:0010978	Abnormality of immune system physiology	6775	STAT4	ORPHA:85410
HP:0010978	Abnormality of immune system physiology	79722	ANKRD55	ORPHA:85410
HP:0010978	Abnormality of immune system physiology	26191	PTPN22	ORPHA:85410
HP:0010978	Abnormality of immune system physiology	26191	PTPN22	ORPHA:900
HP:0010978	Abnormality of immune system physiology	26191	PTPN22	OMIM:222100
HP:0010978	Abnormality of immune system physiology	5771	PTPN2	ORPHA:85410
HP:0010978	Abnormality of immune system physiology	23592	LEMD3	ORPHA:166119
HP:0010978	Abnormality of immune system physiology	3119	HLA-DQB1	ORPHA:703
HP:0010978	Abnormality of immune system physiology	1776	DNASE1L3	ORPHA:36412
HP:0010978	Abnormality of immune system physiology	7174	TPP2	ORPHA:444463
HP:0010978	Abnormality of immune system physiology	1235	CCR6	ORPHA:220402
HP:0010978	Abnormality of immune system physiology	1235	CCR6	ORPHA:220393
HP:0010978	Abnormality of immune system physiology	79932	KIAA0319L	ORPHA:220402
HP:0010978	Abnormality of immune system physiology	1490	CCN2	ORPHA:220402
HP:0010978	Abnormality of immune system physiology	1490	CCN2	ORPHA:220393
HP:0010978	Abnormality of immune system physiology	3663	IRF5	ORPHA:220402
HP:0010978	Abnormality of immune system physiology	3663	IRF5	ORPHA:186
HP:0010978	Abnormality of immune system physiology	3663	IRF5	ORPHA:220393
HP:0010978	Abnormality of immune system physiology	857	CAV1	ORPHA:220402
HP:0010978	Abnormality of immune system physiology	857	CAV1	ORPHA:220393
HP:0010978	Abnormality of immune system physiology	55806	HR	ORPHA:701
HP:0010978	Abnormality of immune system physiology	4522	MTHFD1	OMIM:617780
HP:0010978	Abnormality of immune system physiology	10216	PRG4	ORPHA:2848
HP:0010978	Abnormality of immune system physiology	84690	SPATA22	OMIM:621002
HP:0010978	Abnormality of immune system physiology	5994	RFXAP	ORPHA:572
HP:0010978	Abnormality of immune system physiology	4261	CIITA	ORPHA:572
HP:0010978	Abnormality of immune system physiology	5993	RFX5	ORPHA:572
HP:0010978	Abnormality of immune system physiology	8625	RFXANK	ORPHA:572
HP:0010978	Abnormality of immune system physiology	2859	GPR35	ORPHA:171
HP:0010978	Abnormality of immune system physiology	10507	SEMA4D	ORPHA:171
HP:0010978	Abnormality of immune system physiology	4485	MST1	ORPHA:171
HP:0010978	Abnormality of immune system physiology	6925	TCF4	ORPHA:171
HP:0010978	Abnormality of immune system physiology	2332	FMR1	ORPHA:449291
HP:0010978	Abnormality of immune system physiology	5897	RAG2	ORPHA:331206
HP:0010978	Abnormality of immune system physiology	5897	RAG2	ORPHA:39041
HP:0010978	Abnormality of immune system physiology	29071	C1GALT1C1	OMIM:300622
HP:0010978	Abnormality of immune system physiology	28755	TRAC	OMIM:615387
HP:0010978	Abnormality of immune system physiology	4792	NFKBIA	ORPHA:98813
HP:0010978	Abnormality of immune system physiology	3702	ITK	OMIM:613011
HP:0010978	Abnormality of immune system physiology	6774	STAT3	OMIM:615952
HP:0010978	Abnormality of immune system physiology	712	C1QA	OMIM:613652
HP:0010978	Abnormality of immune system physiology	5580	PRKCD	OMIM:615559
HP:0010978	Abnormality of immune system physiology	2321	FLT1	ORPHA:275555
HP:0010978	Abnormality of immune system physiology	219736	STOX1	ORPHA:275555
HP:0010978	Abnormality of immune system physiology	10699	CORIN	ORPHA:275555
HP:0010978	Abnormality of immune system physiology	3115	HLA-DPB1	ORPHA:900
HP:0010978	Abnormality of immune system physiology	5657	PRTN3	ORPHA:900
HP:0010978	Abnormality of immune system physiology	3113	HLA-DPA1	ORPHA:900
HP:0010978	Abnormality of immune system physiology	3575	IL7R	ORPHA:39041
HP:0010978	Abnormality of immune system physiology	3561	IL2RG	ORPHA:39041
HP:0010978	Abnormality of immune system physiology	715	C1R	OMIM:130080
HP:0010978	Abnormality of immune system physiology	23534	TNPO3	ORPHA:186
HP:0010978	Abnormality of immune system physiology	3592	IL12A	ORPHA:186
HP:0010978	Abnormality of immune system physiology	6689	SPIB	ORPHA:186
HP:0010978	Abnormality of immune system physiology	5450	POU2AF1	ORPHA:186
HP:0010978	Abnormality of immune system physiology	9966	TNFSF15	ORPHA:186
HP:0010978	Abnormality of immune system physiology	79258	MMEL1	ORPHA:186
HP:0010978	Abnormality of immune system physiology	84868	HAVCR2	OMIM:618398
HP:0010978	Abnormality of immune system physiology	4893	NRAS	OMIM:614470
HP:0010978	Abnormality of immune system physiology	3845	KRAS	OMIM:614470
HP:0010978	Abnormality of immune system physiology	5728	PTEN	ORPHA:397596
HP:0010978	Abnormality of immune system physiology	83737	ITCH	OMIM:613385
HP:0010978	Abnormality of immune system physiology	83737	ITCH	ORPHA:228426
HP:0010978	Abnormality of immune system physiology	5205	ATP8B1	ORPHA:69665
HP:0010978	Abnormality of immune system physiology	8647	ABCB11	ORPHA:69665
HP:0010978	Abnormality of immune system physiology	5244	ABCB4	ORPHA:69665
HP:0010978	Abnormality of immune system physiology	9971	NR1H4	ORPHA:69665
HP:0010978	Abnormality of immune system physiology	50485	SMARCAL1	ORPHA:1830
HP:0010978	Abnormality of immune system physiology	326	AIRE	ORPHA:3453
HP:0010978	Abnormality of immune system physiology	4087	SMAD2	OMIM:619656
HP:0010978	Abnormality of immune system physiology	5078	PAX4	OMIM:612227
HP:0010978	Abnormality of immune system physiology	208	AKT2	ORPHA:293964
HP:0010978	Abnormality of immune system physiology	3514	IGKC	ORPHA:183675
HP:0010978	Abnormality of immune system physiology	3501	IGHG2	ORPHA:183675
HP:0010978	Abnormality of immune system physiology	710	SERPING1	OMIM:106100
HP:0010978	Abnormality of immune system physiology	4860	PNP	ORPHA:760
HP:0010978	Abnormality of immune system physiology	56246	MRAP	ORPHA:361
HP:0010978	Abnormality of immune system physiology	6770	STAR	ORPHA:361
HP:0010978	Abnormality of immune system physiology	4158	MC2R	ORPHA:361
HP:0010978	Abnormality of immune system physiology	23530	NNT	ORPHA:361
HP:0010978	Abnormality of immune system physiology	10587	TXNRD2	ORPHA:361
HP:0010978	Abnormality of immune system physiology	81704	DOCK8	OMIM:243700
HP:0010978	Abnormality of immune system physiology	3710	ITPR3	OMIM:222100
HP:0010978	Abnormality of immune system physiology	6927	HNF1A	OMIM:222100
HP:0010978	Abnormality of immune system physiology	7535	ZAP70	OMIM:617006
HP:0010978	Abnormality of immune system physiology	10535	RNASEH2A	ORPHA:51
HP:0010978	Abnormality of immune system physiology	84153	RNASEH2C	ORPHA:51
HP:0010978	Abnormality of immune system physiology	25939	SAMHD1	ORPHA:51
HP:0010978	Abnormality of immune system physiology	79621	RNASEH2B	ORPHA:51
HP:0010978	Abnormality of immune system physiology	103	ADAR	ORPHA:51
HP:0010978	Abnormality of immune system physiology	11277	TREX1	ORPHA:51
HP:0010978	Abnormality of immune system physiology	100147744	RNU7-1	ORPHA:51
HP:0010978	Abnormality of immune system physiology	134353	LSM11	ORPHA:51
HP:0010978	Abnormality of immune system physiology	64135	IFIH1	ORPHA:51
HP:0010978	Abnormality of immune system physiology	1369	CPN1	OMIM:212070
HP:0010978	Abnormality of immune system physiology	121391	KRT74	ORPHA:90368
HP:0010978	Abnormality of immune system physiology	3857	KRT9	OMIM:144200
HP:0010978	Abnormality of immune system physiology	2239	GPC4	ORPHA:373
HP:0010978	Abnormality of immune system physiology	2719	GPC3	ORPHA:373
HP:0010978	Abnormality of immune system physiology	1956	EGFR	OMIM:616069
HP:0010978	Abnormality of immune system physiology	6868	ADAM17	OMIM:614328
HP:0010978	Abnormality of immune system physiology	1288	COL4A6	ORPHA:1018
HP:0010978	Abnormality of immune system physiology	1287	COL4A5	ORPHA:1018
HP:0010978	Abnormality of immune system physiology	6728	SRP19	ORPHA:486
HP:0010978	Abnormality of immune system physiology	2672	GFI1	ORPHA:486
HP:0010978	Abnormality of immune system physiology	3684	ITGAM	ORPHA:536
HP:0010978	Abnormality of immune system physiology	221895	JAZF1	ORPHA:536
HP:0010978	Abnormality of immune system physiology	7292	TNFSF4	ORPHA:536
HP:0010978	Abnormality of immune system physiology	55024	BANK1	ORPHA:536
HP:0010978	Abnormality of immune system physiology	3500	IGHG1	ORPHA:536
HP:0010978	Abnormality of immune system physiology	5133	PDCD1	ORPHA:536
HP:0010978	Abnormality of immune system physiology	2113	ETS1	ORPHA:536
HP:0010978	Abnormality of immune system physiology	10318	TNIP1	ORPHA:536
HP:0010978	Abnormality of immune system physiology	7332	UBE2L3	ORPHA:536
HP:0010978	Abnormality of immune system physiology	54899	PXK	ORPHA:536
HP:0010978	Abnormality of immune system physiology	7128	TNFAIP3	ORPHA:536
HP:0010978	Abnormality of immune system physiology	200942	KLHDC8B	OMIM:236000
HP:0010978	Abnormality of immune system physiology	1410	CRYAB	OMIM:608810
HP:0010978	Abnormality of immune system physiology	1314	COPA	OMIM:616414
HP:0010978	Abnormality of immune system physiology	5335	PLCG1	OMIM:620514
HP:0010978	Abnormality of immune system physiology	51371	POMP	OMIM:618048
HP:0010978	Abnormality of immune system physiology	3930	LBR	OMIM:613471
HP:0010978	Abnormality of immune system physiology	4358	MPV17	OMIM:256810
HP:0010978	Abnormality of immune system physiology	129607	CMPK2	OMIM:621018
HP:0010978	Abnormality of immune system physiology	714	C1QC	OMIM:620322
HP:0010978	Abnormality of immune system physiology	4313	MMP2	OMIM:259600
HP:0010978	Abnormality of immune system physiology	440275	EIF2AK4	ORPHA:199241
HP:0010978	Abnormality of immune system physiology	2582	GALE	OMIM:620776
HP:0010978	Abnormality of immune system physiology	8913	CACNA1G	ORPHA:458803
HP:0010978	Abnormality of immune system physiology	3107	HLA-C	OMIM:177900
HP:0010978	Abnormality of immune system physiology	55315	SLC29A3	ORPHA:168569
HP:0010978	Abnormality of immune system physiology	6307	MSMO1	OMIM:616834
HP:0010978	Abnormality of immune system physiology	83483	PLVAP	OMIM:618183
HP:0010978	Abnormality of immune system physiology	10309	CCNO	OMIM:615872
HP:0010978	Abnormality of immune system physiology	100151683	RNU4ATAC	ORPHA:353298
HP:0010978	Abnormality of immune system physiology	114803	MYSM1	OMIM:618116
HP:0010978	Abnormality of immune system physiology	10111	RAD50	OMIM:613078
HP:0010978	Abnormality of immune system physiology	7841	MOGS	OMIM:606056
HP:0010978	Abnormality of immune system physiology	7841	MOGS	ORPHA:79330
HP:0010978	Abnormality of immune system physiology	7555	CNBP	ORPHA:606
HP:0010978	Abnormality of immune system physiology	4478	MSN	OMIM:300988
HP:0010978	Abnormality of immune system physiology	595	CCND1	ORPHA:29073
HP:0010978	Abnormality of immune system physiology	51095	TRNT1	OMIM:616084
HP:0010978	Abnormality of immune system physiology	9508	ADAMTS3	ORPHA:2136
HP:0010978	Abnormality of immune system physiology	147372	CCBE1	ORPHA:2136
HP:0010978	Abnormality of immune system physiology	79633	FAT4	ORPHA:2136
HP:0010978	Abnormality of immune system physiology	4796	TONSL	ORPHA:93357
HP:0010978	Abnormality of immune system physiology	1457	CSNK2A1	OMIM:617062
HP:0010978	Abnormality of immune system physiology	493856	CISD2	OMIM:604928
HP:0010978	Abnormality of immune system physiology	5788	PTPRC	OMIM:619924
HP:0010978	Abnormality of immune system physiology	6117	RPA1	OMIM:619767
HP:0010978	Abnormality of immune system physiology	10165	SLC25A13	ORPHA:247598
HP:0010978	Abnormality of immune system physiology	6948	TCN2	ORPHA:859
HP:0010978	Abnormality of immune system physiology	4938	OAS1	OMIM:618042
HP:0010978	Abnormality of immune system physiology	9939	RBM8A	OMIM:274000
HP:0010978	Abnormality of immune system physiology	28985	MCTS1	OMIM:301115
HP:0010978	Abnormality of immune system physiology	219285	SAMD9L	ORPHA:2585
HP:0010978	Abnormality of immune system physiology	55687	TRMU	OMIM:613070
HP:0010978	Abnormality of immune system physiology	8884	SLC5A6	OMIM:618973
HP:0010978	Abnormality of immune system physiology	1308	COL17A1	ORPHA:79406
HP:0010978	Abnormality of immune system physiology	4312	MMP1	ORPHA:79408
HP:0010978	Abnormality of immune system physiology	1294	COL7A1	ORPHA:79408
HP:0010978	Abnormality of immune system physiology	1294	COL7A1	ORPHA:79409
HP:0010978	Abnormality of immune system physiology	1294	COL7A1	ORPHA:79410
HP:0010978	Abnormality of immune system physiology	1294	COL7A1	ORPHA:79411
HP:0010978	Abnormality of immune system physiology	26873	OPLAH	OMIM:260005
HP:0010978	Abnormality of immune system physiology	253959	RALGAPA1	OMIM:618797
HP:0010978	Abnormality of immune system physiology	3718	JAK3	OMIM:600802
HP:0010978	Abnormality of immune system physiology	5591	PRKDC	OMIM:615966
HP:0010978	Abnormality of immune system physiology	2584	GALK1	ORPHA:79237
HP:0010978	Abnormality of immune system physiology	1678	TIMM8A	ORPHA:52368
HP:0010978	Abnormality of immune system physiology	3875	KRT18	OMIM:215600
HP:0010978	Abnormality of immune system physiology	57731	SPTBN4	OMIM:617519
HP:0010978	Abnormality of immune system physiology	4507	MTAP	OMIM:112250
HP:0010978	Abnormality of immune system physiology	4000	LMNA	ORPHA:2348
HP:0010978	Abnormality of immune system physiology	80144	FRAS1	OMIM:219000
HP:0010978	Abnormality of immune system physiology	10878	CFHR3	OMIM:235400
HP:0010978	Abnormality of immune system physiology	3078	CFHR1	OMIM:235400
HP:0010978	Abnormality of immune system physiology	1387	CREBBP	ORPHA:353277
HP:0010978	Abnormality of immune system physiology	1387	CREBBP	ORPHA:353281
HP:0010978	Abnormality of immune system physiology	2033	EP300	ORPHA:353284
HP:0010978	Abnormality of immune system physiology	4914	NTRK1	ORPHA:642
HP:0010978	Abnormality of immune system physiology	9056	SLC7A7	ORPHA:470
HP:0010978	Abnormality of immune system physiology	10483	SEC23B	ORPHA:201
HP:0010978	Abnormality of immune system physiology	6390	SDHB	ORPHA:201
HP:0010978	Abnormality of immune system physiology	6392	SDHD	ORPHA:201
HP:0010978	Abnormality of immune system physiology	6391	SDHC	ORPHA:201
HP:0010978	Abnormality of immune system physiology	207	AKT1	ORPHA:201
HP:0010978	Abnormality of immune system physiology	205717	USF3	ORPHA:201
HP:0010978	Abnormality of immune system physiology	5290	PIK3CA	ORPHA:201
HP:0010978	Abnormality of immune system physiology	100144748	KLLN	ORPHA:201
HP:0010978	Abnormality of immune system physiology	80169	CTC1	ORPHA:1775
HP:0010978	Abnormality of immune system physiology	55651	NHP2	ORPHA:1775
HP:0010978	Abnormality of immune system physiology	79650	USB1	ORPHA:1775
HP:0010978	Abnormality of immune system physiology	55135	WRAP53	ORPHA:1775
HP:0010978	Abnormality of immune system physiology	4869	NPM1	ORPHA:1775
HP:0010978	Abnormality of immune system physiology	7012	TERC	ORPHA:1775
HP:0010978	Abnormality of immune system physiology	55505	NOP10	ORPHA:1775
HP:0010978	Abnormality of immune system physiology	7298	TYMS	ORPHA:1775
HP:0010978	Abnormality of immune system physiology	6905	TBCE	ORPHA:2323
HP:0010978	Abnormality of immune system physiology	1729	DIAPH1	ORPHA:477814
HP:0010978	Abnormality of immune system physiology	4247	MGAT2	ORPHA:79329
HP:0010978	Abnormality of immune system physiology	23308	ICOSLG	OMIM:620825
HP:0010978	Abnormality of immune system physiology	1794	DOCK2	OMIM:616433
HP:0010978	Abnormality of immune system physiology	90417	KNSTRN	ORPHA:221139
HP:0010978	Abnormality of immune system physiology	4179	CD46	OMIM:612922
HP:0010978	Abnormality of immune system physiology	7056	THBD	OMIM:612926
HP:0010978	Abnormality of immune system physiology	55690	PACS1	ORPHA:329224
HP:0010978	Abnormality of immune system physiology	5199	CFP	OMIM:312060
HP:0010978	Abnormality of immune system physiology	23545	ATP6V0A2	ORPHA:2834
HP:0010978	Abnormality of immune system physiology	6901	TAFAZZIN	OMIM:302060
HP:0010978	Abnormality of immune system physiology	435	ASL	ORPHA:23
HP:0010978	Abnormality of immune system physiology	63929	XPNPEP3	OMIM:613159
HP:0010978	Abnormality of immune system physiology	2710	GK	OMIM:307030
HP:0010978	Abnormality of immune system physiology	3476	IGBP1	OMIM:300472
HP:0010978	Abnormality of immune system physiology	4921	DDR2	OMIM:271665
HP:0010978	Abnormality of immune system physiology	3763	KCNJ6	ORPHA:435628
HP:0010978	Abnormality of immune system physiology	3763	KCNJ6	OMIM:614098
HP:0010978	Abnormality of immune system physiology	5351	PLOD1	OMIM:225400
HP:0010978	Abnormality of immune system physiology	5351	PLOD1	ORPHA:1900
HP:0010978	Abnormality of immune system physiology	6477	SIAH1	OMIM:619314
HP:0010978	Abnormality of immune system physiology	8425	LTBP4	OMIM:613177
HP:0010978	Abnormality of immune system physiology	11133	KPTN	OMIM:615637
HP:0010978	Abnormality of immune system physiology	11133	KPTN	ORPHA:397612
HP:0010978	Abnormality of immune system physiology	81857	MED25	OMIM:616449
HP:0010978	Abnormality of immune system physiology	81857	MED25	ORPHA:464738
HP:0010978	Abnormality of immune system physiology	755	CFAP410	OMIM:602271
HP:0010978	Abnormality of immune system physiology	126792	B3GALT6	OMIM:609465
HP:0010978	Abnormality of immune system physiology	1302	COL11A2	OMIM:215150
HP:0010978	Abnormality of immune system physiology	23149	FCHO1	OMIM:619164
HP:0010978	Abnormality of immune system physiology	10157	AASS	ORPHA:2203
HP:0010978	Abnormality of immune system physiology	6904	TBCD	ORPHA:496641
HP:0010978	Abnormality of immune system physiology	7084	TK2	ORPHA:254875
HP:0010978	Abnormality of immune system physiology	54681	P4HTM	OMIM:618493
HP:0010978	Abnormality of immune system physiology	23594	ORC6	OMIM:613803
HP:0010978	Abnormality of immune system physiology	26040	SETBP1	ORPHA:798
HP:0010978	Abnormality of immune system physiology	2328	FMO3	OMIM:602079
HP:0010978	Abnormality of immune system physiology	2588	GALNS	OMIM:253000
HP:0010978	Abnormality of immune system physiology	51341	ZBTB7A	OMIM:619769
HP:0010978	Abnormality of immune system physiology	54941	RNF125	OMIM:616260
HP:0010978	Abnormality of immune system physiology	84466	MEGF10	OMIM:620249
HP:0010978	Abnormality of immune system physiology	871	SERPINH1	OMIM:613848
HP:0010978	Abnormality of immune system physiology	55294	FBXW7	OMIM:620012
HP:0010978	Abnormality of immune system physiology	5813	PURA	ORPHA:314655
HP:0010978	Abnormality of immune system physiology	4233	MET	OMIM:114550
HP:0010978	Abnormality of immune system physiology	8312	AXIN1	OMIM:114550
HP:0010978	Abnormality of immune system physiology	5157	PDGFRL	OMIM:114550
HP:0010978	Abnormality of immune system physiology	3482	IGF2R	OMIM:114550
HP:0010978	Abnormality of immune system physiology	4149	MAX	OMIM:620712
HP:0010978	Abnormality of immune system physiology	2642	GCGR	ORPHA:438274
HP:0010978	Abnormality of immune system physiology	399	RHOH	OMIM:618307
HP:0010978	Abnormality of immune system physiology	10379	IRF9	OMIM:618648
HP:0010978	Abnormality of immune system physiology	25974	MMACHC	ORPHA:79282
HP:0010978	Abnormality of immune system physiology	8942	KYNU	ORPHA:79155
HP:0010978	Abnormality of immune system physiology	6729	SRP54	OMIM:618752
HP:0010978	Abnormality of immune system physiology	213	ALB	ORPHA:86816
HP:0010978	Abnormality of immune system physiology	727897	MUC5B	OMIM:178500
HP:0010978	Abnormality of immune system physiology	729238	SFTPA2	OMIM:178500
HP:0010978	Abnormality of immune system physiology	1277	COL1A1	ORPHA:1310
HP:0010978	Abnormality of immune system physiology	2629	GBA1	ORPHA:77261
HP:0010978	Abnormality of immune system physiology	2629	GBA1	ORPHA:77259
HP:0010978	Abnormality of immune system physiology	23064	SETX	OMIM:606002
HP:0010978	Abnormality of immune system physiology	5696	PSMB8	OMIM:256040
HP:0010978	Abnormality of immune system physiology	950	SCARB2	ORPHA:77259
HP:0010978	Abnormality of immune system physiology	5573	PRKAR1A	ORPHA:950
HP:0010978	Abnormality of immune system physiology	5144	PDE4D	ORPHA:950
HP:0010978	Abnormality of immune system physiology	2068	ERCC2	ORPHA:1466
HP:0010978	Abnormality of immune system physiology	2067	ERCC1	ORPHA:1466
HP:0010978	Abnormality of immune system physiology	2074	ERCC6	ORPHA:1466
HP:0010978	Abnormality of immune system physiology	2073	ERCC5	ORPHA:1466
HP:0010978	Abnormality of immune system physiology	9401	RECQL4	ORPHA:221016
HP:0010978	Abnormality of immune system physiology	134701	RIPPLY2	ORPHA:2311
HP:0010978	Abnormality of immune system physiology	10683	DLL3	ORPHA:2311
HP:0010978	Abnormality of immune system physiology	3955	LFNG	ORPHA:2311
HP:0010978	Abnormality of immune system physiology	84667	HES7	ORPHA:2311
HP:0010978	Abnormality of immune system physiology	145873	MESP2	ORPHA:2311
HP:0010978	Abnormality of immune system physiology	7167	TPI1	ORPHA:868
HP:0010978	Abnormality of immune system physiology	6899	TBX1	ORPHA:1727
HP:0010978	Abnormality of immune system physiology	10225	CD96	ORPHA:1308
HP:0010978	Abnormality of immune system physiology	6916	TBXAS1	ORPHA:1802
HP:0010978	Abnormality of immune system physiology	4693	NDP	ORPHA:649
HP:0010978	Abnormality of immune system physiology	3339	HSPG2	ORPHA:800
HP:0010978	Abnormality of immune system physiology	8517	IKBKG	ORPHA:464
HP:0010978	Abnormality of immune system physiology	5095	PCCA	ORPHA:35
HP:0010978	Abnormality of immune system physiology	5096	PCCB	ORPHA:35
HP:0010978	Abnormality of immune system physiology	9184	BUB3	ORPHA:1052
HP:0010978	Abnormality of immune system physiology	699	BUB1	ORPHA:1052
HP:0010978	Abnormality of immune system physiology	9702	CEP57	ORPHA:1052
HP:0010978	Abnormality of immune system physiology	9319	TRIP13	ORPHA:1052
HP:0010978	Abnormality of immune system physiology	701	BUB1B	ORPHA:1052
HP:0010978	Abnormality of immune system physiology	79693	YRDC	ORPHA:2065
HP:0010978	Abnormality of immune system physiology	51002	TPRKB	ORPHA:2065
HP:0010978	Abnormality of immune system physiology	84942	WDR73	ORPHA:2065
HP:0010978	Abnormality of immune system physiology	55644	OSGEP	ORPHA:2065
HP:0010978	Abnormality of immune system physiology	57122	NUP107	ORPHA:2065
HP:0010978	Abnormality of immune system physiology	10785	WDR4	ORPHA:2065
HP:0010978	Abnormality of immune system physiology	55746	NUP133	ORPHA:2065
HP:0010978	Abnormality of immune system physiology	84520	GON7	ORPHA:2065
HP:0010978	Abnormality of immune system physiology	112858	TP53RK	ORPHA:2065
HP:0010978	Abnormality of immune system physiology	8270	LAGE3	ORPHA:2065
HP:0010978	Abnormality of immune system physiology	55636	CHD7	ORPHA:138
HP:0010978	Abnormality of immune system physiology	9723	SEMA3E	ORPHA:138
HP:0010978	Abnormality of immune system physiology	3394	IRF8	ORPHA:319600
HP:0010978	Abnormality of immune system physiology	64682	ANAPC1	ORPHA:221008
HP:0010978	Abnormality of immune system physiology	54453	RIN2	OMIM:613075
HP:0010978	Abnormality of immune system physiology	91662	NLRP12	OMIM:611762
HP:0010978	Abnormality of immune system physiology	1289	COL5A1	OMIM:130000
HP:0010978	Abnormality of immune system physiology	1290	COL5A2	OMIM:130010
HP:0010978	Abnormality of immune system physiology	4194	MDM4	OMIM:618849
HP:0010978	Abnormality of immune system physiology	6890	TAP1	OMIM:604571
HP:0010978	Abnormality of immune system physiology	79645	CLXN	OMIM:620642
HP:0010978	Abnormality of immune system physiology	25790	CFAP45	OMIM:619608
HP:0010978	Abnormality of immune system physiology	56171	DNAH7	OMIM:620356
HP:0010978	Abnormality of immune system physiology	219972	MPEG1	OMIM:619223
HP:0010978	Abnormality of immune system physiology	10295	BCKDK	OMIM:614923
HP:0010978	Abnormality of immune system physiology	22845	DOLK	OMIM:610768
HP:0010978	Abnormality of immune system physiology	57152	SLURP1	ORPHA:87503
HP:0010978	Abnormality of immune system physiology	2683	B4GALT1	ORPHA:79332
HP:0010978	Abnormality of immune system physiology	2625	GATA3	ORPHA:2237
HP:0010978	Abnormality of immune system physiology	4072	EPCAM	ORPHA:92050
HP:0010978	Abnormality of immune system physiology	105371045	PERCC1	ORPHA:92050
HP:0010978	Abnormality of immune system physiology	65055	REEP1	OMIM:620011
HP:0010978	Abnormality of immune system physiology	4784	NFIX	OMIM:602535
HP:0010978	Abnormality of immune system physiology	9342	SNAP29	OMIM:609528
HP:0010978	Abnormality of immune system physiology	55791	LRIF1	OMIM:619477
HP:0010978	Abnormality of immune system physiology	55037	PTCD3	OMIM:619057
HP:0010978	Abnormality of immune system physiology	10735	STAG2	ORPHA:220386
HP:0010978	Abnormality of immune system physiology	10735	STAG2	ORPHA:93925
HP:0010978	Abnormality of immune system physiology	8243	SMC1A	ORPHA:220386
HP:0010978	Abnormality of immune system physiology	6491	STIL	ORPHA:220386
HP:0010978	Abnormality of immune system physiology	6491	STIL	ORPHA:93926
HP:0010978	Abnormality of immune system physiology	6491	STIL	ORPHA:93924
HP:0010978	Abnormality of immune system physiology	6491	STIL	ORPHA:93925
HP:0010978	Abnormality of immune system physiology	8398	PLA2G6	ORPHA:35069
HP:0010978	Abnormality of immune system physiology	5048	PAFAH1B1	ORPHA:95232
HP:0010978	Abnormality of immune system physiology	526	ATP6V1B2	ORPHA:79500
HP:0010978	Abnormality of immune system physiology	57465	TBC1D24	ORPHA:79500
HP:0010978	Abnormality of immune system physiology	9896	FIG4	OMIM:216340
HP:0010978	Abnormality of immune system physiology	283446	MYO1H	OMIM:619482
HP:0010978	Abnormality of immune system physiology	80025	PANK2	ORPHA:216866
HP:0010978	Abnormality of immune system physiology	92935	MARS2	OMIM:616430
HP:0010978	Abnormality of immune system physiology	4700	NDUFA6	OMIM:618253
HP:0010978	Abnormality of immune system physiology	10342	TFG	ORPHA:90117
HP:0010978	Abnormality of immune system physiology	23007	PLCH1	ORPHA:93925
HP:0010978	Abnormality of immune system physiology	2720	GLB1	ORPHA:79255
HP:0010978	Abnormality of immune system physiology	9420	CYP7B1	OMIM:613812
HP:0010978	Abnormality of immune system physiology	9780	PIEZO1	OMIM:194380
HP:0010978	Abnormality of immune system physiology	2990	GUSB	ORPHA:584
HP:0010978	Abnormality of immune system physiology	23729	SHPK	ORPHA:440713
HP:0010978	Abnormality of immune system physiology	10166	SLC25A15	ORPHA:415
HP:0010978	Abnormality of immune system physiology	9095	TBX19	ORPHA:199296
HP:0010978	Abnormality of immune system physiology	5236	PGM1	OMIM:614921
HP:0010978	Abnormality of immune system physiology	1581	CYP7A1	ORPHA:209902
HP:0010978	Abnormality of immune system physiology	545	ATR	OMIM:614564
HP:0010978	Abnormality of immune system physiology	56244	BTNL2	OMIM:612387
HP:0010978	Abnormality of immune system physiology	56244	BTNL2	ORPHA:797
HP:0010978	Abnormality of immune system physiology	677814	SNORA31	OMIM:619396
HP:0010978	Abnormality of immune system physiology	3661	IRF3	OMIM:616532
HP:0010978	Abnormality of immune system physiology	735	C9	OMIM:613825
HP:0010978	Abnormality of immune system physiology	55851	PSENEN	OMIM:613736
HP:0010978	Abnormality of immune system physiology	5663	PSEN1	OMIM:613737
HP:0010978	Abnormality of immune system physiology	9203	ZMYM3	OMIM:301111
HP:0010978	Abnormality of immune system physiology	7498	XDH	OMIM:278300
HP:0010978	Abnormality of immune system physiology	5832	ALDH18A1	ORPHA:90348
HP:0010978	Abnormality of immune system physiology	9333	TGM5	ORPHA:263534
HP:0010978	Abnormality of immune system physiology	1475	CSTA	ORPHA:263534
HP:0010978	Abnormality of immune system physiology	27086	FOXP1	ORPHA:391372
HP:0010978	Abnormality of immune system physiology	3604	TNFRSF9	OMIM:620282
HP:0010978	Abnormality of immune system physiology	3832	KIF11	ORPHA:2526
HP:0010978	Abnormality of immune system physiology	55243	KIRREL1	OMIM:619201
HP:0010978	Abnormality of immune system physiology	25959	KANK2	OMIM:617783
HP:0010978	Abnormality of immune system physiology	9663	LPIN2	ORPHA:77297
HP:0010978	Abnormality of immune system physiology	64127	NOD2	ORPHA:90340
HP:0010978	Abnormality of immune system physiology	6945	MLX	ORPHA:3287
HP:0010978	Abnormality of immune system physiology	4982	TNFRSF11B	ORPHA:1416
HP:0010978	Abnormality of immune system physiology	56172	ANKH	ORPHA:1416
HP:0010978	Abnormality of immune system physiology	84888	SPPL2A	OMIM:619549
HP:0010978	Abnormality of immune system physiology	6097	RORC	OMIM:616622
HP:0010978	Abnormality of immune system physiology	57169	ZNFX1	OMIM:619644
HP:0010978	Abnormality of immune system physiology	3454	IFNAR1	OMIM:619935
HP:0010978	Abnormality of immune system physiology	3455	IFNAR2	OMIM:616669
HP:0010978	Abnormality of immune system physiology	3574	IL7	OMIM:618309
HP:0010978	Abnormality of immune system physiology	147138	TMC8	OMIM:618231
HP:0010978	Abnormality of immune system physiology	3588	IL10RB	OMIM:612567
HP:0010978	Abnormality of immune system physiology	3872	KRT17	OMIM:167210
HP:0010978	Abnormality of immune system physiology	8558	CDK10	OMIM:617694
HP:0010978	Abnormality of immune system physiology	9103	FCGR2C	ORPHA:3002
HP:0010978	Abnormality of immune system physiology	1854	DUT	OMIM:620044
HP:0010978	Abnormality of immune system physiology	727	C5	OMIM:609536
HP:0010978	Abnormality of immune system physiology	729	C6	OMIM:612446
HP:0010978	Abnormality of immune system physiology	94	ACVRL1	OMIM:600376
HP:0010978	Abnormality of immune system physiology	2022	ENG	OMIM:187300
HP:0010978	Abnormality of immune system physiology	3767	KCNJ11	ORPHA:552
HP:0010978	Abnormality of immune system physiology	3767	KCNJ11	ORPHA:79134
HP:0010978	Abnormality of immune system physiology	3767	KCNJ11	ORPHA:99885
HP:0010978	Abnormality of immune system physiology	3767	KCNJ11	ORPHA:99886
HP:0010978	Abnormality of immune system physiology	8462	KLF11	ORPHA:552
HP:0010978	Abnormality of immune system physiology	2645	GCK	ORPHA:552
HP:0010978	Abnormality of immune system physiology	2645	GCK	ORPHA:99885
HP:0010978	Abnormality of immune system physiology	26060	APPL1	ORPHA:552
HP:0010978	Abnormality of immune system physiology	640	BLK	ORPHA:552
HP:0010978	Abnormality of immune system physiology	1056	CEL	ORPHA:552
HP:0010978	Abnormality of immune system physiology	4760	NEUROD1	ORPHA:552
HP:0010978	Abnormality of immune system physiology	3651	PDX1	ORPHA:552
HP:0010978	Abnormality of immune system physiology	3651	PDX1	ORPHA:99885
HP:0010978	Abnormality of immune system physiology	6833	ABCC8	ORPHA:552
HP:0010978	Abnormality of immune system physiology	6833	ABCC8	ORPHA:79134
HP:0010978	Abnormality of immune system physiology	6833	ABCC8	ORPHA:99885
HP:0010978	Abnormality of immune system physiology	6833	ABCC8	ORPHA:99886
HP:0010978	Abnormality of immune system physiology	3172	HNF4A	ORPHA:552
HP:0010978	Abnormality of immune system physiology	3630	INS	ORPHA:552
HP:0010978	Abnormality of immune system physiology	3630	INS	ORPHA:99885
HP:0010978	Abnormality of immune system physiology	7253	TSHR	ORPHA:99819
HP:0010978	Abnormality of immune system physiology	7253	TSHR	ORPHA:424
HP:0010978	Abnormality of immune system physiology	7253	TSHR	ORPHA:90673
HP:0010978	Abnormality of immune system physiology	811	CALR	ORPHA:824
HP:0010978	Abnormality of immune system physiology	4352	MPL	ORPHA:824
HP:0010978	Abnormality of immune system physiology	3717	JAK2	ORPHA:824
HP:0010978	Abnormality of immune system physiology	54790	TET2	ORPHA:824
HP:0010978	Abnormality of immune system physiology	2778	GNAS	ORPHA:94089
HP:0010978	Abnormality of immune system physiology	2778	GNAS	ORPHA:79443
HP:0010978	Abnormality of immune system physiology	2778	GNAS	ORPHA:79444
HP:0010978	Abnormality of immune system physiology	8675	STX16	ORPHA:94089
HP:0010978	Abnormality of immune system physiology	7317	UBA1	OMIM:301054
HP:0010978	Abnormality of immune system physiology	81858	SHARPIN	OMIM:620795
HP:0010978	Abnormality of immune system physiology	79731	NARS2	ORPHA:79134
HP:0010978	Abnormality of immune system physiology	346171	ZFP57	ORPHA:99886
HP:0010978	Abnormality of immune system physiology	57061	HYMAI	ORPHA:99886
HP:0010978	Abnormality of immune system physiology	5325	PLAGL1	ORPHA:99886
HP:0010978	Abnormality of immune system physiology	7252	TSHB	ORPHA:90674
HP:0010978	Abnormality of immune system physiology	3458	IFNG	ORPHA:88
HP:0010978	Abnormality of immune system physiology	1439	CSF2RB	ORPHA:264675
HP:0010978	Abnormality of immune system physiology	1438	CSF2RA	ORPHA:264675
HP:0010978	Abnormality of immune system physiology	7201	TRHR	ORPHA:99832
HP:0010978	Abnormality of immune system physiology	8772	FADD	ORPHA:306550
HP:0010978	Abnormality of immune system physiology	2903	GRIN2A	ORPHA:98818
HP:0010978	Abnormality of immune system physiology	10134	BCAP31	ORPHA:369942
HP:0010978	Abnormality of immune system physiology	9742	IFT140	OMIM:266920
HP:0010978	Abnormality of immune system physiology	57539	WDR35	OMIM:613610
HP:0010978	Abnormality of immune system physiology	617	BCS1L	OMIM:124000
HP:0010978	Abnormality of immune system physiology	199221	DZIP1L	ORPHA:731
HP:0010978	Abnormality of immune system physiology	5314	PKHD1	ORPHA:731
HP:0010978	Abnormality of immune system physiology	5314	PKHD1	ORPHA:53035
HP:0010978	Abnormality of immune system physiology	5339	PLEC	ORPHA:254361
HP:0010978	Abnormality of immune system physiology	1134	CHRNA1	OMIM:601462
HP:0010978	Abnormality of immune system physiology	1134	CHRNA1	OMIM:608930
HP:0010978	Abnormality of immune system physiology	5913	RAPSN	OMIM:616326
HP:0010978	Abnormality of immune system physiology	199857	ALG14	OMIM:616227
HP:0010978	Abnormality of immune system physiology	1140	CHRNB1	OMIM:616314
HP:0010978	Abnormality of immune system physiology	1140	CHRNB1	OMIM:616313
HP:0010978	Abnormality of immune system physiology	1145	CHRNE	OMIM:616324
HP:0010978	Abnormality of immune system physiology	1144	CHRND	OMIM:616323
HP:0010978	Abnormality of immune system physiology	9581	PREPL	OMIM:616224
HP:0010978	Abnormality of immune system physiology	8292	COLQ	OMIM:603034
HP:0010978	Abnormality of immune system physiology	285489	DOK7	OMIM:254300
HP:0010978	Abnormality of immune system physiology	4593	MUSK	OMIM:616325
HP:0010978	Abnormality of immune system physiology	8318	CDC45	OMIM:617063
HP:0010978	Abnormality of immune system physiology	9076	CLDN1	OMIM:607626
HP:0010978	Abnormality of immune system physiology	51473	DCDC2	OMIM:617394
HP:0010978	Abnormality of immune system physiology	113220	KIF12	OMIM:619662
HP:0010978	Abnormality of immune system physiology	5371	PML	ORPHA:520
HP:0010978	Abnormality of immune system physiology	5914	RARA	ORPHA:520
HP:0010978	Abnormality of immune system physiology	81608	FIP1L1	ORPHA:520
HP:0010978	Abnormality of immune system physiology	54880	BCOR	ORPHA:520
HP:0010978	Abnormality of immune system physiology	64859	NABP1	ORPHA:520
HP:0010978	Abnormality of immune system physiology	4926	NUMA1	ORPHA:520
HP:0010978	Abnormality of immune system physiology	7704	ZBTB16	ORPHA:520
HP:0010978	Abnormality of immune system physiology	79718	TBL1XR1	ORPHA:520
HP:0010978	Abnormality of immune system physiology	10312	TCIRG1	ORPHA:210110
HP:0010978	Abnormality of immune system physiology	1186	CLCN7	ORPHA:210110
HP:0010978	Abnormality of immune system physiology	9842	PLEKHM1	ORPHA:210110
HP:0010978	Abnormality of immune system physiology	590	BCHE	ORPHA:132
HP:0010978	Abnormality of immune system physiology	6208	RPS14	ORPHA:86841
HP:0010978	Abnormality of immune system physiology	23451	SF3B1	ORPHA:75564
HP:0010978	Abnormality of immune system physiology	3939	LDHA	ORPHA:284426
HP:0010978	Abnormality of immune system physiology	54795	TRPM4	OMIM:618531
HP:0010978	Abnormality of immune system physiology	56160	NSMCE3	OMIM:617241
HP:0010978	Abnormality of immune system physiology	5373	PMM2	ORPHA:79318
HP:0010978	Abnormality of immune system physiology	135	ADORA2A	ORPHA:363549
HP:0010978	Abnormality of immune system physiology	4153	MBL2	OMIM:614372
HP:0010978	Abnormality of immune system physiology	53335	BCL11A	ORPHA:251380
HP:0010978	Abnormality of immune system physiology	10661	KLF1	ORPHA:251380
HP:0010978	Abnormality of immune system physiology	3047	HBG1	ORPHA:251380
HP:0010978	Abnormality of immune system physiology	3048	HBG2	ORPHA:251380
HP:0010978	Abnormality of immune system physiology	3579	CXCR2	OMIM:619407
HP:0010978	Abnormality of immune system physiology	84342	COG8	OMIM:611182
HP:0010978	Abnormality of immune system physiology	60468	BACH2	OMIM:618394
HP:0010978	Abnormality of immune system physiology	362	AQP5	ORPHA:2337
HP:0010978	Abnormality of immune system physiology	6005	RHAG	ORPHA:71275
HP:0010978	Abnormality of immune system physiology	6006	RHCE	ORPHA:71275
HP:0010978	Abnormality of immune system physiology	6007	RHD	ORPHA:71275
HP:0010978	Abnormality of immune system physiology	730	C7	OMIM:610102
HP:0010978	Abnormality of immune system physiology	2271	FH	OMIM:606812
HP:0010978	Abnormality of immune system physiology	84992	PIGY	OMIM:616809
HP:0010978	Abnormality of immune system physiology	51163	DBR1	OMIM:619441
HP:0010978	Abnormality of immune system physiology	10020	GNE	OMIM:620757
HP:0010978	Abnormality of immune system physiology	5611	DNAJC3	OMIM:616192
HP:0010978	Abnormality of immune system physiology	10621	POLR3F	OMIM:619872
HP:0010978	Abnormality of immune system physiology	5950	RBP4	OMIM:615147
HP:0010978	Abnormality of immune system physiology	23385	NCSTN	OMIM:142690
HP:0010978	Abnormality of immune system physiology	56983	POGLUT1	ORPHA:79145
HP:0010978	Abnormality of immune system physiology	23509	POFUT1	ORPHA:79145
HP:0010978	Abnormality of immune system physiology	2038	EPB42	ORPHA:822
HP:0010978	Abnormality of immune system physiology	6521	SLC4A1	ORPHA:822
HP:0010978	Abnormality of immune system physiology	6710	SPTB	ORPHA:822
HP:0010978	Abnormality of immune system physiology	6708	SPTA1	ORPHA:822
HP:0010978	Abnormality of immune system physiology	286	ANK1	ORPHA:822
HP:0010978	Abnormality of immune system physiology	25839	COG4	ORPHA:263501
HP:0010978	Abnormality of immune system physiology	4558	MT-TF	ORPHA:550
HP:0010978	Abnormality of immune system physiology	4572	MT-TQ	ORPHA:550
HP:0010978	Abnormality of immune system physiology	4513	MT-CO2	ORPHA:550
HP:0010978	Abnormality of immune system physiology	4578	MT-TW	ORPHA:550
HP:0010978	Abnormality of immune system physiology	4540	MT-ND5	ORPHA:550
HP:0010978	Abnormality of immune system physiology	4541	MT-ND6	ORPHA:550
HP:0010978	Abnormality of immune system physiology	4535	MT-ND1	ORPHA:550
HP:0010978	Abnormality of immune system physiology	4538	MT-ND4	ORPHA:550
HP:0010978	Abnormality of immune system physiology	4567	MT-TL1	ORPHA:550
HP:0010978	Abnormality of immune system physiology	4574	MT-TS1	ORPHA:550
HP:0010978	Abnormality of immune system physiology	4575	MT-TS2	ORPHA:550
HP:0010978	Abnormality of immune system physiology	4564	MT-TH	ORPHA:550
HP:0010978	Abnormality of immune system physiology	55503	TRPV6	ORPHA:676
HP:0010978	Abnormality of immune system physiology	1357	CPA1	ORPHA:676
HP:0010978	Abnormality of immune system physiology	27178	IL37	OMIM:619398
HP:0010978	Abnormality of immune system physiology	55765	INAVA	OMIM:618077
HP:0010978	Abnormality of immune system physiology	3587	IL10RA	OMIM:613148
HP:0010978	Abnormality of immune system physiology	2984	GUCY2C	OMIM:614616
HP:0010978	Abnormality of immune system physiology	1001	CDH3	ORPHA:1573
HP:0010978	Abnormality of immune system physiology	149233	IL23R	ORPHA:117
HP:0010978	Abnormality of immune system physiology	3586	IL10	ORPHA:117
HP:0010978	Abnormality of immune system physiology	4210	MEFV	ORPHA:117
HP:0010978	Abnormality of immune system physiology	1230	CCR1	ORPHA:117
HP:0010978	Abnormality of immune system physiology	101928376	IL12A-AS1	ORPHA:117
HP:0010978	Abnormality of immune system physiology	3106	HLA-B	ORPHA:117
HP:0010978	Abnormality of immune system physiology	7099	TLR4	ORPHA:117
HP:0010978	Abnormality of immune system physiology	720	C4A	ORPHA:117
HP:0010978	Abnormality of immune system physiology	337867	UBAC2	ORPHA:117
HP:0010978	Abnormality of immune system physiology	51752	ERAP1	ORPHA:117
HP:0010978	Abnormality of immune system physiology	8302	KLRC4	ORPHA:117
HP:0010978	Abnormality of immune system physiology	11005	SPINK5	ORPHA:634
HP:0010978	Abnormality of immune system physiology	2623	GATA1	ORPHA:79277
HP:0010978	Abnormality of immune system physiology	7389	UROD	ORPHA:95159
HP:0010978	Abnormality of immune system physiology	3105	HLA-A	ORPHA:179
HP:0010978	Abnormality of immune system physiology	2261	FGFR3	ORPHA:93262
HP:0010978	Abnormality of immune system physiology	8626	TP63	ORPHA:1896
HP:0010978	Abnormality of immune system physiology	114548	NLRP3	ORPHA:1451
HP:0010978	Abnormality of immune system physiology	224	ALDH3A2	ORPHA:816
HP:0010978	Abnormality of immune system physiology	8314	BAP1	ORPHA:39044
HP:0010978	Abnormality of immune system physiology	57105	CYSLTR2	ORPHA:39044
HP:0010978	Abnormality of immune system physiology	2776	GNAQ	ORPHA:39044
HP:0010978	Abnormality of immune system physiology	7132	TNFRSF1A	ORPHA:32960
HP:0010978	Abnormality of immune system physiology	3655	ITGA6	ORPHA:79403
HP:0010978	Abnormality of immune system physiology	3691	ITGB4	ORPHA:79403
HP:0010978	Abnormality of immune system physiology	825	CAPN3	OMIM:253600
HP:0010978	Abnormality of immune system physiology	3181	HNRNPA2B1	OMIM:615422
HP:0010978	Abnormality of immune system physiology	84033	OBSCN	ORPHA:99845
HP:0010978	Abnormality of immune system physiology	23175	LPIN1	ORPHA:99845
HP:0010978	Abnormality of immune system physiology	4512	MT-CO1	ORPHA:99845
HP:0010978	Abnormality of immune system physiology	4514	MT-CO3	ORPHA:99845
HP:0010978	Abnormality of immune system physiology	3662	IRF4	ORPHA:3452
HP:0010978	Abnormality of immune system physiology	3908	LAMA2	ORPHA:258
HP:0010978	Abnormality of immune system physiology	4221	MEN1	OMIM:131100
HP:0010978	Abnormality of immune system physiology	22900	CARD8	OMIM:619079
HP:0010978	Abnormality of immune system physiology	60684	TRAPPC11	OMIM:615356
HP:0010978	Abnormality of immune system physiology	81031	SLC2A10	ORPHA:3342
HP:0010978	Abnormality of immune system physiology	9719	ADAMTSL2	ORPHA:1901
HP:0010978	Abnormality of immune system physiology	9509	ADAMTS2	ORPHA:1901
HP:0010978	Abnormality of immune system physiology	2887	GRB10	ORPHA:96182
HP:0010978	Abnormality of immune system physiology	2743	GLRB	ORPHA:3197
HP:0010978	Abnormality of immune system physiology	2741	GLRA1	ORPHA:3197
HP:0010978	Abnormality of immune system physiology	10243	GPHN	ORPHA:3197
HP:0010978	Abnormality of immune system physiology	84896	ATAD1	ORPHA:3197
HP:0010978	Abnormality of immune system physiology	9152	SLC6A5	ORPHA:3197
HP:0010978	Abnormality of immune system physiology	7543	ZFX	OMIM:301118
HP:0010978	Abnormality of immune system physiology	5723	PSPH	ORPHA:79350
HP:0010978	Abnormality of immune system physiology	26227	PHGDH	ORPHA:79351
HP:0010978	Abnormality of immune system physiology	7038	TG	OMIM:608175
HP:0010978	Abnormality of immune system physiology	57623	ZFAT	OMIM:608175
HP:0010978	Abnormality of immune system physiology	9692	PRORP	OMIM:619737
HP:0010978	Abnormality of immune system physiology	3909	LAMA3	ORPHA:79404
HP:0010978	Abnormality of immune system physiology	3918	LAMC2	ORPHA:79404
HP:0010978	Abnormality of immune system physiology	3914	LAMB3	ORPHA:79404
HP:0010978	Abnormality of immune system physiology	215	ABCD1	ORPHA:388
HP:0010978	Abnormality of immune system physiology	5979	RET	ORPHA:388
HP:0010978	Abnormality of immune system physiology	2668	GDNF	ORPHA:388
HP:0010978	Abnormality of immune system physiology	6608	SMO	ORPHA:388
HP:0010978	Abnormality of immune system physiology	1889	ECE1	ORPHA:388
HP:0010978	Abnormality of immune system physiology	6720	SREBF1	ORPHA:388
HP:0010978	Abnormality of immune system physiology	1908	EDN3	ORPHA:388
HP:0010978	Abnormality of immune system physiology	223117	SEMA3D	ORPHA:388
HP:0010978	Abnormality of immune system physiology	538	ATP7A	ORPHA:388
HP:0010978	Abnormality of immune system physiology	538	ATP7A	ORPHA:565
HP:0010978	Abnormality of immune system physiology	1910	EDNRB	ORPHA:388
HP:0010978	Abnormality of immune system physiology	10512	SEMA3C	ORPHA:388
HP:0010978	Abnormality of immune system physiology	2064	ERBB2	ORPHA:388
HP:0010978	Abnormality of immune system physiology	2065	ERBB3	ORPHA:388
HP:0010978	Abnormality of immune system physiology	4902	NRTN	ORPHA:388
HP:0010978	Abnormality of immune system physiology	939	CD27	OMIM:615122
HP:0010978	Abnormality of immune system physiology	3162	HMOX1	OMIM:614034
HP:0010978	Abnormality of immune system physiology	2137	EXTL3	OMIM:617425
HP:0010978	Abnormality of immune system physiology	65082	VPS33A	OMIM:617303
HP:0010978	Abnormality of immune system physiology	65082	VPS33A	ORPHA:505248
HP:0010978	Abnormality of immune system physiology	29927	SEC61A1	OMIM:620674
HP:0010978	Abnormality of immune system physiology	29927	SEC61A1	OMIM:620670
HP:0010978	Abnormality of immune system physiology	4689	NCF4	ORPHA:379
HP:0010978	Abnormality of immune system physiology	79415	CYBC1	ORPHA:379
HP:0010978	Abnormality of immune system physiology	1991	ELANE	ORPHA:2686
HP:0010978	Abnormality of immune system physiology	3417	IDH1	ORPHA:99646
HP:0010978	Abnormality of immune system physiology	2592	GALT	ORPHA:79239
HP:0010978	Abnormality of immune system physiology	10320	IKZF1	ORPHA:36426
HP:0010978	Abnormality of immune system physiology	1351	COX8A	OMIM:619059
HP:0010978	Abnormality of immune system physiology	4615	MYD88	OMIM:612260
HP:0010978	Abnormality of immune system physiology	50619	DEF6	OMIM:619573
HP:0010978	Abnormality of immune system physiology	92579	G6PC3	OMIM:612541
HP:0010978	Abnormality of immune system physiology	130589	GALM	ORPHA:570422
HP:0010978	Abnormality of immune system physiology	713	C1QB	OMIM:620321
HP:0010978	Abnormality of immune system physiology	7852	CXCR4	ORPHA:51636
HP:0010978	Abnormality of immune system physiology	151516	ASPRV1	ORPHA:313
HP:0010978	Abnormality of immune system physiology	242	ALOX12B	ORPHA:313
HP:0010978	Abnormality of immune system physiology	126410	CYP4F22	ORPHA:313
HP:0010978	Abnormality of immune system physiology	6820	SULT2B1	ORPHA:313
HP:0010978	Abnormality of immune system physiology	26154	ABCA12	ORPHA:313
HP:0010978	Abnormality of immune system physiology	643418	LIPN	ORPHA:313
HP:0010978	Abnormality of immune system physiology	59344	ALOXE3	ORPHA:313
HP:0010978	Abnormality of immune system physiology	348938	NIPAL4	ORPHA:313
HP:0010978	Abnormality of immune system physiology	121214	SDR9C7	ORPHA:313
HP:0010978	Abnormality of immune system physiology	7051	TGM1	ORPHA:313
HP:0010978	Abnormality of immune system physiology	10804	GJB6	ORPHA:477
HP:0010978	Abnormality of immune system physiology	2706	GJB2	ORPHA:477
HP:0010978	Abnormality of immune system physiology	1499	CTNNB1	ORPHA:873
HP:0010978	Abnormality of immune system physiology	324	APC	ORPHA:873
HP:0010978	Abnormality of immune system physiology	10664	CTCF	ORPHA:363611
HP:0010978	Abnormality of immune system physiology	54809	SAMD9	OMIM:617053
HP:0010978	Abnormality of immune system physiology	3852	KRT5	OMIM:619599
HP:0010978	Abnormality of immune system physiology	3852	KRT5	ORPHA:79396
HP:0010978	Abnormality of immune system physiology	54914	FOCAD	OMIM:619991
HP:0010978	Abnormality of immune system physiology	9681	DEPDC5	OMIM:620504
HP:0010978	Abnormality of immune system physiology	83706	FERMT3	OMIM:612840
HP:0010978	Abnormality of immune system physiology	54440	SASH3	OMIM:301082
HP:0010978	Abnormality of immune system physiology	130340	AP1S3	ORPHA:247353
HP:0010978	Abnormality of immune system physiology	26525	IL36RN	ORPHA:247353
HP:0010978	Abnormality of immune system physiology	25802	LMOD1	OMIM:619362
HP:0010978	Abnormality of immune system physiology	25802	LMOD1	ORPHA:2241
HP:0010978	Abnormality of immune system physiology	4629	MYH11	ORPHA:2241
HP:0010978	Abnormality of immune system physiology	72	ACTG2	ORPHA:2241
HP:0010978	Abnormality of immune system physiology	4638	MYLK	ORPHA:2241
HP:0010978	Abnormality of immune system physiology	2215	FCGR3B	ORPHA:464370
HP:0010978	Abnormality of immune system physiology	6440	SFTPC	ORPHA:685082
HP:0010978	Abnormality of immune system physiology	21	ABCA3	ORPHA:685082
HP:0010978	Abnormality of immune system physiology	6439	SFTPB	ORPHA:685082
HP:0010978	Abnormality of immune system physiology	5317	PKP1	ORPHA:158668
HP:0010978	Abnormality of immune system physiology	6603	SMARCD2	OMIM:617475
HP:0010978	Abnormality of immune system physiology	204	AK2	OMIM:267500
HP:0010978	Abnormality of immune system physiology	204	AK2	ORPHA:33355
HP:0010978	Abnormality of immune system physiology	8565	YARS1	OMIM:619418
HP:0010978	Abnormality of immune system physiology	57591	MRTFA	OMIM:618847
HP:0010978	Abnormality of immune system physiology	5824	PEX19	OMIM:614886
HP:0010978	Abnormality of immune system physiology	3110	MNX1	OMIM:176450
HP:0010978	Abnormality of immune system physiology	79087	ALG12	ORPHA:79324
HP:0010978	Abnormality of immune system physiology	11342	RNF13	ORPHA:544503
HP:0010978	Abnormality of immune system physiology	3861	KRT14	ORPHA:79396
HP:0010978	Abnormality of immune system physiology	867	CBL	ORPHA:98850
HP:0010978	Abnormality of immune system physiology	861	RUNX1	ORPHA:98850
HP:0010978	Abnormality of immune system physiology	6427	SRSF2	ORPHA:98850
HP:0010978	Abnormality of immune system physiology	3815	KIT	ORPHA:79455
HP:0010978	Abnormality of immune system physiology	55630	SLC39A4	ORPHA:37
HP:0010978	Abnormality of immune system physiology	1508	CTSB	ORPHA:50943
HP:0010978	Abnormality of immune system physiology	23600	AMACR	ORPHA:79095
HP:0010978	Abnormality of immune system physiology	23600	AMACR	OMIM:214950
HP:0010978	Abnormality of immune system physiology	80270	HSD3B7	OMIM:607765
HP:0010978	Abnormality of immune system physiology	63894	VIPAS39	OMIM:613404
HP:0010978	Abnormality of immune system physiology	26276	VPS33B	OMIM:208085
HP:0010978	Abnormality of immune system physiology	6718	AKR1D1	ORPHA:79303
HP:0010978	Abnormality of immune system physiology	2737	GLI3	ORPHA:672
HP:0010978	Abnormality of immune system physiology	29969	MDFIC	OMIM:620014
HP:0010978	Abnormality of immune system physiology	55777	MBD5	OMIM:156200
HP:0010978	Abnormality of immune system physiology	1650	DDOST	ORPHA:300536
HP:0010978	Abnormality of immune system physiology	1650	DDOST	OMIM:614507
HP:0010978	Abnormality of immune system physiology	3952	LEP	OMIM:614962
HP:0010978	Abnormality of immune system physiology	2273	FHL1	OMIM:300280
HP:0010978	Abnormality of immune system physiology	4088	SMAD3	OMIM:613795
HP:0010978	Abnormality of immune system physiology	7046	TGFBR1	OMIM:609192
HP:0010978	Abnormality of immune system physiology	7048	TGFBR2	OMIM:610168
HP:0010978	Abnormality of immune system physiology	7042	TGFB2	OMIM:614816
HP:0010978	Abnormality of immune system physiology	7043	TGFB3	OMIM:615582
HP:0010978	Abnormality of immune system physiology	567	B2M	OMIM:241600
HP:0010978	Abnormality of immune system physiology	6773	STAT2	OMIM:616636
HP:0010978	Abnormality of immune system physiology	2304	FOXE1	OMIM:241850
HP:0010978	Abnormality of immune system physiology	55553	SOX6	OMIM:618971
HP:0010978	Abnormality of immune system physiology	816	CAMK2B	OMIM:617799
HP:0010978	Abnormality of immune system physiology	10060	ABCC9	OMIM:619719
HP:0010978	Abnormality of immune system physiology	1777	DNASE2	OMIM:619858
HP:0010978	Abnormality of immune system physiology	93587	TRMT10A	OMIM:616033
HP:0010978	Abnormality of immune system physiology	5698	PSMB9	OMIM:620796
HP:0100951	Enlarged fossa interpeduncularis	54806	AHI1	OMIM:608629
HP:0100951	Enlarged fossa interpeduncularis	51259	TMEM216	OMIM:608091
HP:0100951	Enlarged fossa interpeduncularis	56623	INPP5E	OMIM:213300
HP:0100951	Enlarged fossa interpeduncularis	91147	TMEM67	OMIM:610688
HP:0002421	Poor head control	4702	NDUFA8	OMIM:619272
HP:0002421	Poor head control	57190	SELENON	ORPHA:324604
HP:0002421	Poor head control	57190	SELENON	ORPHA:97244
HP:0002421	Poor head control	57190	SELENON	OMIM:602771
HP:0002421	Poor head control	57190	SELENON	ORPHA:2020
HP:0002421	Poor head control	4625	MYH7	ORPHA:324604
HP:0002421	Poor head control	7273	TTN	ORPHA:324604
HP:0002421	Poor head control	4359	MPZ	OMIM:618184
HP:0002421	Poor head control	58	ACTA1	ORPHA:97244
HP:0002421	Poor head control	58	ACTA1	OMIM:620265
HP:0002421	Poor head control	58	ACTA1	ORPHA:2020
HP:0002421	Poor head control	54539	NDUFB11	ORPHA:2609
HP:0002421	Poor head control	25915	NDUFAF3	ORPHA:2609
HP:0002421	Poor head control	51103	NDUFAF1	ORPHA:2609
HP:0002421	Poor head control	91942	NDUFAF2	ORPHA:2609
HP:0002421	Poor head control	51300	TIMMDC1	ORPHA:2609
HP:0002421	Poor head control	4716	NDUFB10	ORPHA:2609
HP:0002421	Poor head control	4723	NDUFV1	ORPHA:2609
HP:0002421	Poor head control	55572	FOXRED1	ORPHA:2609
HP:0002421	Poor head control	284184	NDUFAF8	ORPHA:2609
HP:0002421	Poor head control	55863	TMEM126B	ORPHA:2609
HP:0002421	Poor head control	4535	MT-ND1	ORPHA:2609
HP:0002421	Poor head control	4537	MT-ND3	ORPHA:2609
HP:0002421	Poor head control	4729	NDUFV2	ORPHA:2609
HP:0002421	Poor head control	4694	NDUFA1	ORPHA:2609
HP:0002421	Poor head control	4720	NDUFS2	ORPHA:2609
HP:0002421	Poor head control	4724	NDUFS4	ORPHA:2609
HP:0002421	Poor head control	4724	NDUFS4	OMIM:252010
HP:0002421	Poor head control	4726	NDUFS6	ORPHA:2609
HP:0002421	Poor head control	4728	NDUFS8	ORPHA:2609
HP:0002421	Poor head control	4722	NDUFS3	ORPHA:2609
HP:0002421	Poor head control	79133	NDUFAF5	ORPHA:2609
HP:0002421	Poor head control	126328	NDUFA11	ORPHA:2609
HP:0002421	Poor head control	4709	NDUFB3	ORPHA:2609
HP:0002421	Poor head control	80224	NUBPL	ORPHA:2609
HP:0002421	Poor head control	29078	NDUFAF4	ORPHA:2609
HP:0002421	Poor head control	374291	NDUFS7	ORPHA:2609
HP:0002421	Poor head control	4700	NDUFA6	ORPHA:2609
HP:0002421	Poor head control	4536	MT-ND2	ORPHA:2609
HP:0002421	Poor head control	4719	NDUFS1	ORPHA:2609
HP:0002421	Poor head control	4715	NDUFB9	ORPHA:2609
HP:0002421	Poor head control	26235	FBXL4	OMIM:615471
HP:0002421	Poor head control	29925	GMPPB	OMIM:615350
HP:0002421	Poor head control	29925	GMPPB	OMIM:615351
HP:0002421	Poor head control	29925	GMPPB	ORPHA:353327
HP:0002421	Poor head control	2775	GNAO1	OMIM:617493
HP:0002421	Poor head control	2775	GNAO1	ORPHA:1934
HP:0002421	Poor head control	57128	LYRM4	OMIM:615595
HP:0002421	Poor head control	1144	CHRND	OMIM:616321
HP:0002421	Poor head control	5393	EXOSC9	OMIM:618065
HP:0002421	Poor head control	64116	SLC39A8	OMIM:616721
HP:0002421	Poor head control	64116	SLC39A8	ORPHA:468699
HP:0002421	Poor head control	1305	COL13A1	OMIM:616720
HP:0002421	Poor head control	1305	COL13A1	ORPHA:98914
HP:0002421	Poor head control	23394	ADNP	OMIM:615873
HP:0002421	Poor head control	8818	DPM2	ORPHA:329178
HP:0002421	Poor head control	781	CACNA2D1	OMIM:620149
HP:0002421	Poor head control	781	CACNA2D1	ORPHA:442835
HP:0002421	Poor head control	56623	INPP5E	OMIM:213300
HP:0002421	Poor head control	7138	TNNT1	OMIM:620389
HP:0002421	Poor head control	6571	SLC18A2	ORPHA:352649
HP:0002421	Poor head control	6571	SLC18A2	OMIM:618049
HP:0002421	Poor head control	170302	ARX	OMIM:308350
HP:0002421	Poor head control	170302	ARX	ORPHA:1934
HP:0002421	Poor head control	1605	DAG1	ORPHA:370997
HP:0002421	Poor head control	1605	DAG1	OMIM:616538
HP:0002421	Poor head control	3073	HEXA	OMIM:272800
HP:0002421	Poor head control	57165	GJC2	OMIM:608804
HP:0002421	Poor head control	55610	VPS50	OMIM:619685
HP:0002421	Poor head control	11277	TREX1	OMIM:225750
HP:0002421	Poor head control	10978	CLP1	ORPHA:411493
HP:0002421	Poor head control	10659	CELF2	OMIM:619561
HP:0002421	Poor head control	10659	CELF2	ORPHA:442835
HP:0002421	Poor head control	51506	UFC1	OMIM:618076
HP:0002421	Poor head control	63895	PIEZO2	OMIM:617146
HP:0002421	Poor head control	9342	SNAP29	ORPHA:66631
HP:0002421	Poor head control	9342	SNAP29	OMIM:609528
HP:0002421	Poor head control	5917	RARS1	ORPHA:438114
HP:0002421	Poor head control	5917	RARS1	OMIM:616140
HP:0002421	Poor head control	1644	DDC	ORPHA:35708
HP:0002421	Poor head control	443	ASPA	ORPHA:314918
HP:0002421	Poor head control	443	ASPA	ORPHA:314911
HP:0002421	Poor head control	84466	MEGF10	OMIM:614399
HP:0002421	Poor head control	84197	POMK	OMIM:615249
HP:0002421	Poor head control	3097	HIVEP2	OMIM:616977
HP:0002421	Poor head control	51010	EXOSC3	OMIM:614678
HP:0002421	Poor head control	55033	FKBP14	OMIM:614557
HP:0002421	Poor head control	55033	FKBP14	ORPHA:300179
HP:0002421	Poor head control	25885	POLR1A	OMIM:620675
HP:0002421	Poor head control	55768	NGLY1	ORPHA:404454
HP:0002421	Poor head control	54820	NDE1	OMIM:605013
HP:0002421	Poor head control	79158	GNPTAB	OMIM:252500
HP:0002421	Poor head control	2673	GFPT1	ORPHA:353327
HP:0002421	Poor head control	1798	DPAGT1	ORPHA:353327
HP:0002421	Poor head control	85365	ALG2	ORPHA:353327
HP:0002421	Poor head control	199857	ALG14	ORPHA:353327
HP:0002421	Poor head control	87178	PNPT1	ORPHA:319514
HP:0002421	Poor head control	87178	PNPT1	OMIM:614932
HP:0002421	Poor head control	55250	ELP2	OMIM:617270
HP:0002421	Poor head control	79868	ALG13	ORPHA:324422
HP:0002421	Poor head control	84340	GFM2	ORPHA:565624
HP:0002421	Poor head control	112939	NACC1	OMIM:617393
HP:0002421	Poor head control	100131801	PET100	OMIM:619055
HP:0002421	Poor head control	8913	CACNA1G	OMIM:618087
HP:0002421	Poor head control	84665	MYPN	ORPHA:171881
HP:0002421	Poor head control	7169	TPM2	ORPHA:171881
HP:0002421	Poor head control	7169	TPM2	ORPHA:2020
HP:0002421	Poor head control	7170	TPM3	ORPHA:171881
HP:0002421	Poor head control	7170	TPM3	ORPHA:2020
HP:0002421	Poor head control	4705	NDUFA10	OMIM:618243
HP:0002421	Poor head control	9512	PMPCB	OMIM:617954
HP:0002421	Poor head control	816	CAMK2B	OMIM:617799
HP:0002421	Poor head control	191	AHCY	OMIM:613752
HP:0002421	Poor head control	191	AHCY	ORPHA:88618
HP:0002421	Poor head control	51079	NDUFA13	OMIM:618249
HP:0002421	Poor head control	819	CAMLG	OMIM:620201
HP:0002421	Poor head control	6606	SMN1	OMIM:253300
HP:0002421	Poor head control	8604	SLC25A12	OMIM:612949
HP:0002421	Poor head control	5805	PTS	ORPHA:13
HP:0002421	Poor head control	8802	SUCLG1	OMIM:245400
HP:0002421	Poor head control	5354	PLP1	ORPHA:280210
HP:0002421	Poor head control	5354	PLP1	ORPHA:280219
HP:0002421	Poor head control	6792	CDKL5	ORPHA:505652
HP:0002421	Poor head control	6792	CDKL5	ORPHA:1934
HP:0002421	Poor head control	6712	SPTBN2	OMIM:600224
HP:0002421	Poor head control	1327	COX4I1	OMIM:619060
HP:0002421	Poor head control	4633	MYL2	ORPHA:2020
HP:0002421	Poor head control	3679	ITGA7	ORPHA:2020
HP:0002421	Poor head control	9200	HACD1	ORPHA:2020
HP:0002421	Poor head control	51776	MAP3K20	ORPHA:2020
HP:0002421	Poor head control	6390	SDHB	OMIM:619224
HP:0002421	Poor head control	6390	SDHB	ORPHA:3208
HP:0002421	Poor head control	84342	COG8	OMIM:611182
HP:0002421	Poor head control	84342	COG8	ORPHA:95428
HP:0002421	Poor head control	5277	PIGA	OMIM:300868
HP:0002421	Poor head control	2903	GRIN2A	ORPHA:289266
HP:0002421	Poor head control	388962	BOLA3	OMIM:614299
HP:0002421	Poor head control	10352	WARS2	ORPHA:572798
HP:0002421	Poor head control	3737	KCNA2	ORPHA:442835
HP:0002421	Poor head control	1759	DNM1	ORPHA:442835
HP:0002421	Poor head control	1759	DNM1	OMIM:620352
HP:0002421	Poor head control	8120	AP3B2	ORPHA:442835
HP:0002421	Poor head control	523	ATP6V1A	ORPHA:442835
HP:0002421	Poor head control	10991	SLC38A3	ORPHA:442835
HP:0002421	Poor head control	51343	FZR1	ORPHA:442835
HP:0002421	Poor head control	3747	KCNC2	ORPHA:442835
HP:0002421	Poor head control	3747	KCNC2	OMIM:619913
HP:0002421	Poor head control	1917	EEF1A2	ORPHA:442835
HP:0002421	Poor head control	23219	FBXO28	ORPHA:442835
HP:0002421	Poor head control	2561	GABRB2	ORPHA:442835
HP:0002421	Poor head control	8831	SYNGAP1	ORPHA:442835
HP:0002421	Poor head control	2558	GABRA5	ORPHA:442835
HP:0002421	Poor head control	2906	GRIN2D	ORPHA:442835
HP:0002421	Poor head control	116150	NUS1	ORPHA:442835
HP:0002421	Poor head control	1213	CLTC	ORPHA:442835
HP:0002421	Poor head control	51741	WWOX	ORPHA:442835
HP:0002421	Poor head control	23334	SZT2	ORPHA:442835
HP:0002421	Poor head control	348980	HCN1	ORPHA:442835
HP:0002421	Poor head control	25977	NECAP1	ORPHA:442835
HP:0002421	Poor head control	23241	PACS2	ORPHA:442835
HP:0002421	Poor head control	16	AARS1	ORPHA:442835
HP:0002421	Poor head control	6334	SCN8A	ORPHA:442835
HP:0002421	Poor head control	9568	GABBR2	ORPHA:442835
HP:0002421	Poor head control	9568	GABBR2	OMIM:617904
HP:0002421	Poor head control	2555	GABRA2	ORPHA:442835
HP:0002421	Poor head control	55152	DALRD3	ORPHA:442835
HP:0002421	Poor head control	26999	CYFIP2	ORPHA:442835
HP:0002421	Poor head control	4915	NTRK2	ORPHA:442835
HP:0002421	Poor head control	25973	PARS2	ORPHA:442835
HP:0002421	Poor head control	23097	CDK19	ORPHA:442835
HP:0002421	Poor head control	2257	FGF12	ORPHA:442835
HP:0002421	Poor head control	5530	PPP3CA	ORPHA:442835
HP:0002421	Poor head control	478	ATP1A3	ORPHA:442835
HP:0002421	Poor head control	22906	TRAK1	ORPHA:442835
HP:0002421	Poor head control	2566	GABRG2	ORPHA:442835
HP:0002421	Poor head control	7532	YWHAG	ORPHA:442835
HP:0002421	Poor head control	79876	UBA5	ORPHA:442835
HP:0002421	Poor head control	6328	SCN3A	ORPHA:442835
HP:0002421	Poor head control	774	CACNA1B	ORPHA:442835
HP:0002421	Poor head control	51412	ACTL6B	ORPHA:442835
HP:0002421	Poor head control	2290	FOXG1	ORPHA:442835
HP:0002421	Poor head control	6506	SLC1A2	ORPHA:442835
HP:0002421	Poor head control	8867	SYNJ1	ORPHA:442835
HP:0002421	Poor head control	477	ATP1A2	ORPHA:442835
HP:0002421	Poor head control	3745	KCNB1	ORPHA:442835
HP:0002421	Poor head control	284111	SLC13A5	ORPHA:442835
HP:0002421	Poor head control	22866	CNKSR2	ORPHA:442835
HP:0002421	Poor head control	773	CACNA1A	ORPHA:442835
HP:0002421	Poor head control	6323	SCN1A	ORPHA:442835
HP:0002421	Poor head control	79947	DHDDS	ORPHA:442835
HP:0002421	Poor head control	3028	HSD17B10	ORPHA:391428
HP:0002421	Poor head control	8943	AP3D1	OMIM:617050
HP:0002421	Poor head control	253738	EBF3	OMIM:617330
HP:0002421	Poor head control	5281	PIGF	OMIM:619356
HP:0002421	Poor head control	84879	MFSD2A	OMIM:616486
HP:0002421	Poor head control	10815	CPLX1	OMIM:617976
HP:0002421	Poor head control	116115	ZNF526	OMIM:619877
HP:0002421	Poor head control	538	ATP7A	OMIM:309400
HP:0002421	Poor head control	4191	MDH2	OMIM:617339
HP:0002421	Poor head control	9091	PIGQ	OMIM:618548
HP:0002421	Poor head control	9091	PIGQ	ORPHA:1934
HP:0002421	Poor head control	3251	HPRT1	OMIM:300322
HP:0002421	Poor head control	253959	RALGAPA1	OMIM:618797
HP:0002421	Poor head control	2273	FHL1	OMIM:300717
HP:0002421	Poor head control	163175	LGI4	OMIM:617468
HP:0002421	Poor head control	60482	SLC5A7	ORPHA:98914
HP:0002421	Poor head control	4649	MYO9A	ORPHA:98914
HP:0002421	Poor head control	1103	CHAT	ORPHA:98914
HP:0002421	Poor head control	6576	SLC25A1	ORPHA:98914
HP:0002421	Poor head control	6843	VAMP1	ORPHA:98914
HP:0002421	Poor head control	6843	VAMP1	OMIM:618323
HP:0002421	Poor head control	375790	AGRN	ORPHA:98914
HP:0002421	Poor head control	127833	SYT2	ORPHA:98914
HP:0002421	Poor head control	6572	SLC18A3	ORPHA:98914
HP:0002421	Poor head control	6616	SNAP25	ORPHA:98914
HP:0002421	Poor head control	64135	IFIH1	OMIM:615846
HP:0002421	Poor head control	8292	COLQ	ORPHA:98915
HP:0002421	Poor head control	3913	LAMB2	ORPHA:98915
HP:0002421	Poor head control	3708	ITPR1	OMIM:117360
HP:0002421	Poor head control	3708	ITPR1	OMIM:206700
HP:0002421	Poor head control	57038	RARS2	OMIM:611523
HP:0002421	Poor head control	10681	GNB5	ORPHA:542306
HP:0002421	Poor head control	10667	FARS2	ORPHA:466722
HP:0002421	Poor head control	4841	NONO	ORPHA:466791
HP:0002421	Poor head control	4000	LMNA	ORPHA:157973
HP:0002421	Poor head control	4000	LMNA	OMIM:613205
HP:0002421	Poor head control	7355	SLC35A2	OMIM:300896
HP:0002421	Poor head control	79147	FKRP	OMIM:613153
HP:0002421	Poor head control	111	ADCY5	OMIM:619651
HP:0002421	Poor head control	125988	MICOS13	OMIM:618329
HP:0002421	Poor head control	2902	GRIN1	OMIM:619814
HP:0002421	Poor head control	2902	GRIN1	ORPHA:1934
HP:0002421	Poor head control	6389	SDHA	ORPHA:3208
HP:0002421	Poor head control	6392	SDHD	ORPHA:3208
HP:0002421	Poor head control	644096	SDHAF1	ORPHA:3208
HP:0002421	Poor head control	51227	PIGP	OMIM:617599
HP:0002421	Poor head control	51227	PIGP	ORPHA:1934
HP:0002421	Poor head control	9725	TMEM63A	OMIM:618688
HP:0002421	Poor head control	50628	GEMIN4	OMIM:617913
HP:0002421	Poor head control	2581	GALC	ORPHA:206436
HP:0002421	Poor head control	5660	PSAP	ORPHA:206436
HP:0002421	Poor head control	5048	PAFAH1B1	ORPHA:95232
HP:0002421	Poor head control	57731	SPTBN4	OMIM:617519
HP:0002421	Poor head control	124454	EARS2	OMIM:614924
HP:0002421	Poor head control	1719	DHFR	OMIM:613839
HP:0002421	Poor head control	28962	OSTM1	OMIM:259720
HP:0002421	Poor head control	6567	SLC16A2	ORPHA:59
HP:0002421	Poor head control	64432	MRPS25	OMIM:619025
HP:0002421	Poor head control	9742	IFT140	OMIM:266920
HP:0002421	Poor head control	8884	SLC5A6	OMIM:618973
HP:0002421	Poor head control	133686	NADK2	OMIM:616034
HP:0002421	Poor head control	3658	IREB2	OMIM:618451
HP:0002421	Poor head control	221692	PHACTR1	OMIM:618298
HP:0002421	Poor head control	10243	GPHN	OMIM:615501
HP:0002421	Poor head control	1140	CHRNB1	OMIM:616313
HP:0002421	Poor head control	3329	HSPD1	OMIM:612233
HP:0002421	Poor head control	8449	DHX16	OMIM:618733
HP:0002421	Poor head control	7407	VARS1	OMIM:617802
HP:0002421	Poor head control	27445	PCLO	OMIM:608027
HP:0002421	Poor head control	3736	KCNA1	ORPHA:1934
HP:0002421	Poor head control	140679	SLC32A1	ORPHA:1934
HP:0002421	Poor head control	81603	TRIM8	ORPHA:1934
HP:0002421	Poor head control	79751	SLC25A22	ORPHA:1934
HP:0002421	Poor head control	150094	SIK1	ORPHA:1934
HP:0002421	Poor head control	8573	CASK	ORPHA:1934
HP:0002421	Poor head control	23312	DMXL2	ORPHA:1934
HP:0002421	Poor head control	2917	GRM7	ORPHA:1934
HP:0002421	Poor head control	11284	PNKP	ORPHA:1934
HP:0002421	Poor head control	6326	SCN2A	ORPHA:1934
HP:0002421	Poor head control	6324	SCN1B	ORPHA:1934
HP:0002421	Poor head control	4761	NEUROD2	ORPHA:1934
HP:0002421	Poor head control	9325	TRIP4	ORPHA:486815
HP:0002421	Poor head control	2760	GM2A	OMIM:272750
HP:0002421	Poor head control	90952	ESAM	OMIM:620371
HP:0002059	Cerebral atrophy	5274	SERPINI1	OMIM:604218
HP:0002059	Cerebral atrophy	10749	KIF1C	ORPHA:397946
HP:0002059	Cerebral atrophy	10749	KIF1C	OMIM:611302
HP:0002059	Cerebral atrophy	3064	HTT	ORPHA:399
HP:0002059	Cerebral atrophy	3064	HTT	OMIM:617435
HP:0002059	Cerebral atrophy	6515	SLC2A3	ORPHA:399
HP:0002059	Cerebral atrophy	1497	CTNS	OMIM:219800
HP:0002059	Cerebral atrophy	23394	ADNP	ORPHA:404448
HP:0002059	Cerebral atrophy	10617	STAMBP	OMIM:614261
HP:0002059	Cerebral atrophy	26235	FBXL4	OMIM:615471
HP:0002059	Cerebral atrophy	5723	PSPH	OMIM:614023
HP:0002059	Cerebral atrophy	2775	GNAO1	OMIM:615473
HP:0002059	Cerebral atrophy	2775	GNAO1	OMIM:617493
HP:0002059	Cerebral atrophy	51569	UFM1	OMIM:617899
HP:0002059	Cerebral atrophy	6873	TAF2	OMIM:615599
HP:0002059	Cerebral atrophy	6873	TAF2	ORPHA:397951
HP:0002059	Cerebral atrophy	10059	DNM1L	OMIM:614388
HP:0002059	Cerebral atrophy	60684	TRAPPC11	OMIM:615356
HP:0002059	Cerebral atrophy	60684	TRAPPC11	ORPHA:369847
HP:0002059	Cerebral atrophy	81857	MED25	OMIM:616449
HP:0002059	Cerebral atrophy	81857	MED25	ORPHA:464738
HP:0002059	Cerebral atrophy	2720	GLB1	OMIM:230600
HP:0002059	Cerebral atrophy	1786	DNMT1	ORPHA:314404
HP:0002059	Cerebral atrophy	1786	DNMT1	OMIM:614116
HP:0002059	Cerebral atrophy	84942	WDR73	OMIM:251300
HP:0002059	Cerebral atrophy	4552	MTRR	OMIM:236270
HP:0002059	Cerebral atrophy	57165	GJC2	OMIM:608804
HP:0002059	Cerebral atrophy	3074	HEXB	ORPHA:309162
HP:0002059	Cerebral atrophy	65267	WNK3	OMIM:309610
HP:0002059	Cerebral atrophy	51741	WWOX	OMIM:616211
HP:0002059	Cerebral atrophy	51741	WWOX	ORPHA:442835
HP:0002059	Cerebral atrophy	477	ATP1A2	OMIM:619605
HP:0002059	Cerebral atrophy	477	ATP1A2	ORPHA:442835
HP:0002059	Cerebral atrophy	101060691	NUTM2B-AS1	OMIM:618637
HP:0002059	Cerebral atrophy	1841	DTYMK	OMIM:619847
HP:0002059	Cerebral atrophy	375387	NRROS	OMIM:618875
HP:0002059	Cerebral atrophy	54982	CLN6	OMIM:204300
HP:0002059	Cerebral atrophy	16	AARS1	OMIM:616339
HP:0002059	Cerebral atrophy	16	AARS1	ORPHA:442835
HP:0002059	Cerebral atrophy	5610	EIF2AK2	OMIM:618877
HP:0002059	Cerebral atrophy	55768	NGLY1	ORPHA:404454
HP:0002059	Cerebral atrophy	1161	ERCC8	OMIM:216400
HP:0002059	Cerebral atrophy	79693	YRDC	OMIM:619609
HP:0002059	Cerebral atrophy	23250	ATP11A	OMIM:619851
HP:0002059	Cerebral atrophy	7345	UCHL1	OMIM:615491
HP:0002059	Cerebral atrophy	5105	PCK1	OMIM:261680
HP:0002059	Cerebral atrophy	9698	PUM1	OMIM:620719
HP:0002059	Cerebral atrophy	7343	UBTF	OMIM:617672
HP:0002059	Cerebral atrophy	7343	UBTF	ORPHA:500180
HP:0002059	Cerebral atrophy	91869	RFT1	ORPHA:244310
HP:0002059	Cerebral atrophy	91869	RFT1	OMIM:612015
HP:0002059	Cerebral atrophy	6573	SLC19A1	OMIM:620603
HP:0002059	Cerebral atrophy	2074	ERCC6	OMIM:278800
HP:0002059	Cerebral atrophy	2074	ERCC6	OMIM:133540
HP:0002059	Cerebral atrophy	1716	DGUOK	OMIM:251880
HP:0002059	Cerebral atrophy	833	CARS1	OMIM:618891
HP:0002059	Cerebral atrophy	5833	PCYT2	OMIM:618770
HP:0002059	Cerebral atrophy	57178	ZMIZ1	OMIM:618659
HP:0002059	Cerebral atrophy	1201	CLN3	OMIM:204200
HP:0002059	Cerebral atrophy	3737	KCNA2	ORPHA:442835
HP:0002059	Cerebral atrophy	1759	DNM1	ORPHA:442835
HP:0002059	Cerebral atrophy	8120	AP3B2	ORPHA:442835
HP:0002059	Cerebral atrophy	8120	AP3B2	OMIM:617276
HP:0002059	Cerebral atrophy	523	ATP6V1A	ORPHA:442835
HP:0002059	Cerebral atrophy	523	ATP6V1A	OMIM:618012
HP:0002059	Cerebral atrophy	10991	SLC38A3	ORPHA:442835
HP:0002059	Cerebral atrophy	51343	FZR1	ORPHA:442835
HP:0002059	Cerebral atrophy	3747	KCNC2	ORPHA:442835
HP:0002059	Cerebral atrophy	1917	EEF1A2	ORPHA:442835
HP:0002059	Cerebral atrophy	1917	EEF1A2	OMIM:616393
HP:0002059	Cerebral atrophy	23219	FBXO28	ORPHA:442835
HP:0002059	Cerebral atrophy	23219	FBXO28	OMIM:619777
HP:0002059	Cerebral atrophy	2561	GABRB2	ORPHA:442835
HP:0002059	Cerebral atrophy	8831	SYNGAP1	ORPHA:442835
HP:0002059	Cerebral atrophy	2558	GABRA5	ORPHA:442835
HP:0002059	Cerebral atrophy	2906	GRIN2D	ORPHA:442835
HP:0002059	Cerebral atrophy	2906	GRIN2D	OMIM:617162
HP:0002059	Cerebral atrophy	116150	NUS1	ORPHA:442835
HP:0002059	Cerebral atrophy	1213	CLTC	ORPHA:442835
HP:0002059	Cerebral atrophy	23334	SZT2	ORPHA:442835
HP:0002059	Cerebral atrophy	348980	HCN1	ORPHA:442835
HP:0002059	Cerebral atrophy	25977	NECAP1	ORPHA:442835
HP:0002059	Cerebral atrophy	23241	PACS2	ORPHA:442835
HP:0002059	Cerebral atrophy	6334	SCN8A	ORPHA:442835
HP:0002059	Cerebral atrophy	6334	SCN8A	OMIM:614558
HP:0002059	Cerebral atrophy	9568	GABBR2	ORPHA:442835
HP:0002059	Cerebral atrophy	2555	GABRA2	ORPHA:442835
HP:0002059	Cerebral atrophy	55152	DALRD3	ORPHA:442835
HP:0002059	Cerebral atrophy	26999	CYFIP2	ORPHA:442835
HP:0002059	Cerebral atrophy	26999	CYFIP2	OMIM:618008
HP:0002059	Cerebral atrophy	4915	NTRK2	ORPHA:442835
HP:0002059	Cerebral atrophy	25973	PARS2	ORPHA:442835
HP:0002059	Cerebral atrophy	23097	CDK19	ORPHA:442835
HP:0002059	Cerebral atrophy	23097	CDK19	OMIM:618916
HP:0002059	Cerebral atrophy	2257	FGF12	ORPHA:442835
HP:0002059	Cerebral atrophy	5530	PPP3CA	ORPHA:442835
HP:0002059	Cerebral atrophy	5530	PPP3CA	OMIM:617711
HP:0002059	Cerebral atrophy	478	ATP1A3	ORPHA:442835
HP:0002059	Cerebral atrophy	22906	TRAK1	ORPHA:442835
HP:0002059	Cerebral atrophy	2566	GABRG2	ORPHA:442835
HP:0002059	Cerebral atrophy	7532	YWHAG	ORPHA:442835
HP:0002059	Cerebral atrophy	79876	UBA5	ORPHA:442835
HP:0002059	Cerebral atrophy	79876	UBA5	OMIM:617132
HP:0002059	Cerebral atrophy	6328	SCN3A	ORPHA:442835
HP:0002059	Cerebral atrophy	781	CACNA2D1	ORPHA:442835
HP:0002059	Cerebral atrophy	10659	CELF2	ORPHA:442835
HP:0002059	Cerebral atrophy	774	CACNA1B	ORPHA:442835
HP:0002059	Cerebral atrophy	774	CACNA1B	OMIM:618497
HP:0002059	Cerebral atrophy	51412	ACTL6B	ORPHA:442835
HP:0002059	Cerebral atrophy	51412	ACTL6B	OMIM:618468
HP:0002059	Cerebral atrophy	2290	FOXG1	ORPHA:442835
HP:0002059	Cerebral atrophy	6506	SLC1A2	ORPHA:442835
HP:0002059	Cerebral atrophy	6506	SLC1A2	OMIM:617105
HP:0002059	Cerebral atrophy	8867	SYNJ1	ORPHA:442835
HP:0002059	Cerebral atrophy	3745	KCNB1	ORPHA:442835
HP:0002059	Cerebral atrophy	284111	SLC13A5	ORPHA:442835
HP:0002059	Cerebral atrophy	22866	CNKSR2	ORPHA:442835
HP:0002059	Cerebral atrophy	773	CACNA1A	ORPHA:442835
HP:0002059	Cerebral atrophy	6323	SCN1A	ORPHA:442835
HP:0002059	Cerebral atrophy	6323	SCN1A	ORPHA:293181
HP:0002059	Cerebral atrophy	6323	SCN1A	OMIM:607208
HP:0002059	Cerebral atrophy	79947	DHDDS	ORPHA:442835
HP:0002059	Cerebral atrophy	26040	SETBP1	OMIM:269150
HP:0002059	Cerebral atrophy	26834	RNU4-2	OMIM:620851
HP:0002059	Cerebral atrophy	9895	TECPR2	OMIM:615031
HP:0002059	Cerebral atrophy	9895	TECPR2	ORPHA:320385
HP:0002059	Cerebral atrophy	51604	PIGT	OMIM:615398
HP:0002059	Cerebral atrophy	84504	NKX6-2	ORPHA:527497
HP:0002059	Cerebral atrophy	23126	POGZ	OMIM:616364
HP:0002059	Cerebral atrophy	54902	TTC19	OMIM:615157
HP:0002059	Cerebral atrophy	92609	TIMM50	OMIM:617698
HP:0002059	Cerebral atrophy	92609	TIMM50	ORPHA:505216
HP:0002059	Cerebral atrophy	51692	CPSF3	OMIM:619876
HP:0002059	Cerebral atrophy	8021	NUP214	OMIM:618426
HP:0002059	Cerebral atrophy	285362	SUMF1	OMIM:272200
HP:0002059	Cerebral atrophy	56052	ALG1	ORPHA:79327
HP:0002059	Cerebral atrophy	56052	ALG1	OMIM:608540
HP:0002059	Cerebral atrophy	79796	ALG9	ORPHA:79328
HP:0002059	Cerebral atrophy	79796	ALG9	OMIM:608776
HP:0002059	Cerebral atrophy	54828	BCAS3	OMIM:619641
HP:0002059	Cerebral atrophy	253959	RALGAPA1	OMIM:618797
HP:0002059	Cerebral atrophy	4076	CAPRIN1	OMIM:620636
HP:0002059	Cerebral atrophy	6621	SNAPC4	OMIM:620515
HP:0002059	Cerebral atrophy	10531	PITRM1	OMIM:619405
HP:0002059	Cerebral atrophy	256471	MFSD8	OMIM:610951
HP:0002059	Cerebral atrophy	2271	FH	OMIM:606812
HP:0002059	Cerebral atrophy	23556	PIGN	OMIM:614080
HP:0002059	Cerebral atrophy	55739	NAXD	OMIM:618321
HP:0002059	Cerebral atrophy	23162	MAPK8IP3	OMIM:618443
HP:0002059	Cerebral atrophy	5917	RARS1	OMIM:616140
HP:0002059	Cerebral atrophy	259232	NALCN	OMIM:616266
HP:0002059	Cerebral atrophy	339855	KY	ORPHA:496689
HP:0002059	Cerebral atrophy	3785	KCNQ2	ORPHA:439218
HP:0002059	Cerebral atrophy	3785	KCNQ2	ORPHA:293181
HP:0002059	Cerebral atrophy	29960	MRM2	OMIM:618567
HP:0002059	Cerebral atrophy	23189	KANK1	OMIM:612900
HP:0002059	Cerebral atrophy	2055	CLN8	ORPHA:1947
HP:0002059	Cerebral atrophy	2055	CLN8	OMIM:600143
HP:0002059	Cerebral atrophy	2055	CLN8	OMIM:610003
HP:0002059	Cerebral atrophy	8813	DPM1	ORPHA:79322
HP:0002059	Cerebral atrophy	10195	ALG3	OMIM:601110
HP:0002059	Cerebral atrophy	26100	WIPI2	OMIM:618453
HP:0002059	Cerebral atrophy	10533	ATG7	OMIM:619422
HP:0002059	Cerebral atrophy	7040	TGFB1	OMIM:618213
HP:0002059	Cerebral atrophy	81570	CLPB	OMIM:616271
HP:0002059	Cerebral atrophy	81570	CLPB	ORPHA:445038
HP:0002059	Cerebral atrophy	51117	COQ4	OMIM:616276
HP:0002059	Cerebral atrophy	133686	NADK2	OMIM:616034
HP:0002059	Cerebral atrophy	51693	TRAPPC2L	OMIM:618331
HP:0002059	Cerebral atrophy	84188	FAR1	OMIM:616154
HP:0002059	Cerebral atrophy	27133	KCNH5	OMIM:620537
HP:0002059	Cerebral atrophy	27429	HTRA2	OMIM:617248
HP:0002059	Cerebral atrophy	58497	PRUNE1	ORPHA:544469
HP:0002059	Cerebral atrophy	51013	EXOSC1	OMIM:619304
HP:0002059	Cerebral atrophy	140679	SLC32A1	OMIM:620774
HP:0002059	Cerebral atrophy	5277	PIGA	OMIM:301072
HP:0002059	Cerebral atrophy	5277	PIGA	OMIM:300868
HP:0002059	Cerebral atrophy	5277	PIGA	ORPHA:293181
HP:0002059	Cerebral atrophy	4137	MAPT	OMIM:601104
HP:0002059	Cerebral atrophy	9759	HDAC4	OMIM:619797
HP:0002059	Cerebral atrophy	23516	SLC39A14	OMIM:617013
HP:0002059	Cerebral atrophy	23516	SLC39A14	ORPHA:521406
HP:0002059	Cerebral atrophy	8506	CNTNAP1	OMIM:616286
HP:0002059	Cerebral atrophy	1317	SLC31A1	OMIM:620306
HP:0002059	Cerebral atrophy	54973	INTS11	OMIM:620428
HP:0002059	Cerebral atrophy	9526	MPDU1	OMIM:609180
HP:0002059	Cerebral atrophy	4838	NODAL	OMIM:270100
HP:0002059	Cerebral atrophy	128869	PIGU	OMIM:618590
HP:0002059	Cerebral atrophy	10733	PLK4	OMIM:616171
HP:0002059	Cerebral atrophy	7084	TK2	ORPHA:254886
HP:0002059	Cerebral atrophy	7084	TK2	OMIM:609560
HP:0002059	Cerebral atrophy	5428	POLG	ORPHA:254886
HP:0002059	Cerebral atrophy	5428	POLG	OMIM:203700
HP:0002059	Cerebral atrophy	11277	TREX1	OMIM:225750
HP:0002059	Cerebral atrophy	4695	NDUFA2	OMIM:618235
HP:0002059	Cerebral atrophy	79868	ALG13	OMIM:300884
HP:0002059	Cerebral atrophy	57520	HECW2	OMIM:617268
HP:0002059	Cerebral atrophy	112939	NACC1	ORPHA:500545
HP:0002059	Cerebral atrophy	112939	NACC1	OMIM:617393
HP:0002059	Cerebral atrophy	11152	WDR45	ORPHA:329284
HP:0002059	Cerebral atrophy	11152	WDR45	OMIM:300894
HP:0002059	Cerebral atrophy	25885	POLR1A	OMIM:620675
HP:0002059	Cerebral atrophy	1760	DMPK	OMIM:160900
HP:0002059	Cerebral atrophy	154881	KCTD7	OMIM:611726
HP:0002059	Cerebral atrophy	154881	KCTD7	ORPHA:263516
HP:0002059	Cerebral atrophy	5934	RBL2	OMIM:619690
HP:0002059	Cerebral atrophy	79709	COLGALT1	OMIM:618360
HP:0002059	Cerebral atrophy	5071	PRKN	OMIM:600116
HP:0002059	Cerebral atrophy	4784	NFIX	OMIM:602535
HP:0002059	Cerebral atrophy	4784	NFIX	ORPHA:447980
HP:0002059	Cerebral atrophy	84340	GFM2	ORPHA:565624
HP:0002059	Cerebral atrophy	84340	GFM2	OMIM:618397
HP:0002059	Cerebral atrophy	63925	ZNF335	OMIM:615095
HP:0002059	Cerebral atrophy	22930	RAB3GAP1	OMIM:600118
HP:0002059	Cerebral atrophy	4704	NDUFA9	OMIM:618247
HP:0002059	Cerebral atrophy	79641	ROGDI	OMIM:226750
HP:0002059	Cerebral atrophy	6601	SMARCC2	OMIM:618362
HP:0002059	Cerebral atrophy	8260	NAA10	OMIM:300855
HP:0002059	Cerebral atrophy	8260	NAA10	ORPHA:276432
HP:0002059	Cerebral atrophy	7965	AIMP2	OMIM:618006
HP:0002059	Cerebral atrophy	549	AUH	OMIM:250950
HP:0002059	Cerebral atrophy	56652	TWNK	OMIM:609286
HP:0002059	Cerebral atrophy	6821	SUOX	OMIM:272300
HP:0002059	Cerebral atrophy	1781	DYNC1I2	OMIM:618492
HP:0002059	Cerebral atrophy	5611	DNAJC3	OMIM:616192
HP:0002059	Cerebral atrophy	5611	DNAJC3	ORPHA:445062
HP:0002059	Cerebral atrophy	127833	SYT2	OMIM:619461
HP:0002059	Cerebral atrophy	8802	SUCLG1	ORPHA:17
HP:0002059	Cerebral atrophy	8802	SUCLG1	OMIM:245400
HP:0002059	Cerebral atrophy	4714	NDUFB8	OMIM:618252
HP:0002059	Cerebral atrophy	1822	ATN1	OMIM:618494
HP:0002059	Cerebral atrophy	4761	NEUROD2	OMIM:618374
HP:0002059	Cerebral atrophy	84896	ATAD1	OMIM:618011
HP:0002059	Cerebral atrophy	220296	HEPACAM	OMIM:613925
HP:0002059	Cerebral atrophy	4548	MTR	OMIM:250940
HP:0002059	Cerebral atrophy	3028	HSD17B10	ORPHA:391428
HP:0002059	Cerebral atrophy	83480	PUS3	OMIM:617051
HP:0002059	Cerebral atrophy	8943	AP3D1	OMIM:617050
HP:0002059	Cerebral atrophy	80347	COASY	OMIM:618266
HP:0002059	Cerebral atrophy	57498	KIDINS220	OMIM:617296
HP:0002059	Cerebral atrophy	3975	LHX1	ORPHA:261265
HP:0002059	Cerebral atrophy	6928	HNF1B	ORPHA:261265
HP:0002059	Cerebral atrophy	57003	CCDC47	OMIM:618268
HP:0002059	Cerebral atrophy	51095	TRNT1	OMIM:616084
HP:0002059	Cerebral atrophy	4567	MT-TL1	ORPHA:324525
HP:0002059	Cerebral atrophy	28962	OSTM1	ORPHA:85179
HP:0002059	Cerebral atrophy	28962	OSTM1	OMIM:259720
HP:0002059	Cerebral atrophy	94005	PIGS	OMIM:618143
HP:0002059	Cerebral atrophy	145173	B3GLCT	OMIM:261540
HP:0002059	Cerebral atrophy	51091	SEPSECS	OMIM:613811
HP:0002059	Cerebral atrophy	2571	GAD1	OMIM:619124
HP:0002059	Cerebral atrophy	100147744	RNU7-1	OMIM:619487
HP:0002059	Cerebral atrophy	90522	YIF1B	OMIM:619125
HP:0002059	Cerebral atrophy	2760	GM2A	ORPHA:309246
HP:0002059	Cerebral atrophy	2760	GM2A	OMIM:272750
HP:0002059	Cerebral atrophy	440138	ALG11	ORPHA:280071
HP:0002059	Cerebral atrophy	51715	RAB23	OMIM:201000
HP:0002059	Cerebral atrophy	91875	TTC5	OMIM:619244
HP:0002059	Cerebral atrophy	134353	LSM11	OMIM:619486
HP:0002059	Cerebral atrophy	1200	TPP1	OMIM:204500
HP:0002059	Cerebral atrophy	57038	RARS2	OMIM:611523
HP:0002059	Cerebral atrophy	57704	GBA2	ORPHA:320391
HP:0002059	Cerebral atrophy	57704	GBA2	OMIM:614409
HP:0002059	Cerebral atrophy	57704	GBA2	ORPHA:352641
HP:0002059	Cerebral atrophy	6663	SOX10	OMIM:609136
HP:0002059	Cerebral atrophy	10084	PQBP1	OMIM:309500
HP:0002059	Cerebral atrophy	84231	TRAF7	OMIM:618164
HP:0002059	Cerebral atrophy	2733	GLE1	OMIM:611890
HP:0002059	Cerebral atrophy	9487	PIGL	OMIM:280000
HP:0002059	Cerebral atrophy	727676	SNORD118	ORPHA:542310
HP:0002059	Cerebral atrophy	54187	NANS	OMIM:610442
HP:0002059	Cerebral atrophy	1719	DHFR	OMIM:613839
HP:0002059	Cerebral atrophy	4668	NAGA	OMIM:609242
HP:0002059	Cerebral atrophy	54936	ADPRS	OMIM:618170
HP:0002059	Cerebral atrophy	64802	NMNAT1	OMIM:619260
HP:0002059	Cerebral atrophy	2629	GBA1	OMIM:230900
HP:0002059	Cerebral atrophy	10535	RNASEH2A	OMIM:610333
HP:0002059	Cerebral atrophy	27445	PCLO	OMIM:608027
HP:0002059	Cerebral atrophy	8398	PLA2G6	OMIM:610217
HP:0002059	Cerebral atrophy	8398	PLA2G6	OMIM:256600
HP:0002059	Cerebral atrophy	374654	KIF7	ORPHA:166024
HP:0002059	Cerebral atrophy	4702	NDUFA8	OMIM:619272
HP:0002059	Cerebral atrophy	27183	VPS4A	OMIM:619273
HP:0002059	Cerebral atrophy	10134	BCAP31	OMIM:300475
HP:0002059	Cerebral atrophy	158	ADSL	OMIM:103050
HP:0002059	Cerebral atrophy	199857	ALG14	OMIM:619036
HP:0002059	Cerebral atrophy	1183	CLCN4	OMIM:300114
HP:0002059	Cerebral atrophy	51102	MECR	ORPHA:508093
HP:0002059	Cerebral atrophy	5393	EXOSC9	OMIM:618065
HP:0002059	Cerebral atrophy	7355	SLC35A2	ORPHA:356961
HP:0002059	Cerebral atrophy	7355	SLC35A2	OMIM:300896
HP:0002059	Cerebral atrophy	1593	CYP27A1	OMIM:213700
HP:0002059	Cerebral atrophy	347734	SLC35B2	OMIM:620269
HP:0002059	Cerebral atrophy	10466	COG5	OMIM:613612
HP:0002059	Cerebral atrophy	6326	SCN2A	ORPHA:293181
HP:0002059	Cerebral atrophy	57468	SLC12A5	ORPHA:293181
HP:0002059	Cerebral atrophy	57468	SLC12A5	OMIM:616645
HP:0002059	Cerebral atrophy	23236	PLCB1	ORPHA:293181
HP:0002059	Cerebral atrophy	57582	KCNT1	ORPHA:293181
HP:0002059	Cerebral atrophy	79751	SLC25A22	ORPHA:293181
HP:0002059	Cerebral atrophy	79751	SLC25A22	OMIM:609304
HP:0002059	Cerebral atrophy	57465	TBC1D24	ORPHA:293181
HP:0002059	Cerebral atrophy	57465	TBC1D24	OMIM:220500
HP:0002059	Cerebral atrophy	57465	TBC1D24	OMIM:615338
HP:0002059	Cerebral atrophy	10667	FARS2	OMIM:614946
HP:0002059	Cerebral atrophy	80222	TARS2	OMIM:615918
HP:0002059	Cerebral atrophy	64324	NSD1	ORPHA:821
HP:0002059	Cerebral atrophy	10297	APC2	ORPHA:821
HP:0002059	Cerebral atrophy	162	AP1B1	OMIM:242150
HP:0002059	Cerebral atrophy	9442	MED27	OMIM:619286
HP:0002059	Cerebral atrophy	80055	PGAP1	OMIM:615802
HP:0002059	Cerebral atrophy	54476	RNF216	OMIM:212840
HP:0002059	Cerebral atrophy	26580	BSCL2	OMIM:615924
HP:0002059	Cerebral atrophy	26580	BSCL2	ORPHA:363400
HP:0002059	Cerebral atrophy	26153	KIF26A	OMIM:620156
HP:0002059	Cerebral atrophy	9382	COG1	OMIM:611209
HP:0002059	Cerebral atrophy	51324	SPG21	OMIM:248900
HP:0002059	Cerebral atrophy	64207	IRF2BPL	OMIM:618088
HP:0002059	Cerebral atrophy	55037	PTCD3	OMIM:619057
HP:0002059	Cerebral atrophy	55157	DARS2	ORPHA:137898
HP:0002059	Cerebral atrophy	93627	TBCK	OMIM:616900
HP:0002059	Cerebral atrophy	2260	FGFR1	ORPHA:2396
HP:0002059	Cerebral atrophy	3845	KRAS	ORPHA:2396
HP:0002059	Cerebral atrophy	114034	TOE1	OMIM:614969
HP:0002059	Cerebral atrophy	1509	CTSD	OMIM:610127
HP:0002059	Cerebral atrophy	7841	MOGS	OMIM:606056
HP:0002059	Cerebral atrophy	8772	FADD	OMIM:613759
HP:0002059	Cerebral atrophy	8772	FADD	ORPHA:306550
HP:0002059	Cerebral atrophy	54675	CRLS1	OMIM:620167
HP:0002059	Cerebral atrophy	5095	PCCA	OMIM:606054
HP:0002059	Cerebral atrophy	5096	PCCB	OMIM:606054
HP:0002059	Cerebral atrophy	57531	HACE1	ORPHA:464282
HP:0002059	Cerebral atrophy	57531	HACE1	OMIM:616756
HP:0002059	Cerebral atrophy	7466	WFS1	OMIM:222300
HP:0002059	Cerebral atrophy	1327	COX4I1	OMIM:619060
HP:0002059	Cerebral atrophy	55775	TDP1	OMIM:607250
HP:0002059	Cerebral atrophy	10352	WARS2	ORPHA:572798
HP:0002059	Cerebral atrophy	10352	WARS2	OMIM:617710
HP:0002059	Cerebral atrophy	4338	MOCS2	OMIM:252160
HP:0002059	Cerebral atrophy	4598	MVK	OMIM:610377
HP:0002059	Cerebral atrophy	54872	PIGG	OMIM:616917
HP:0002059	Cerebral atrophy	3265	HRAS	OMIM:218040
HP:0002059	Cerebral atrophy	5826	ABCD4	OMIM:614857
HP:0002059	Cerebral atrophy	56006	SMG9	OMIM:616920
HP:0002059	Cerebral atrophy	285175	UNC80	OMIM:616801
HP:0002059	Cerebral atrophy	90624	LYRM7	OMIM:615838
HP:0002059	Cerebral atrophy	10056	FARSB	OMIM:613658
HP:0002059	Cerebral atrophy	5521	PPP2R2B	ORPHA:98762
HP:0002059	Cerebral atrophy	1654	DDX3X	ORPHA:3338
HP:0002059	Cerebral atrophy	8481	OFD1	OMIM:311200
HP:0002059	Cerebral atrophy	64135	IFIH1	OMIM:615846
HP:0002059	Cerebral atrophy	3708	ITPR1	OMIM:117360
HP:0002059	Cerebral atrophy	23065	EMC1	ORPHA:480898
HP:0002059	Cerebral atrophy	23065	EMC1	OMIM:616875
HP:0002059	Cerebral atrophy	55343	SLC35C1	ORPHA:99843
HP:0002059	Cerebral atrophy	22880	MORC2	OMIM:619090
HP:0002059	Cerebral atrophy	26047	CNTNAP2	OMIM:610042
HP:0002059	Cerebral atrophy	55275	VPS53	OMIM:615851
HP:0002059	Cerebral atrophy	5824	PEX19	OMIM:614886
HP:0002059	Cerebral atrophy	85021	REPS1	OMIM:617916
HP:0002059	Cerebral atrophy	6314	ATXN7	ORPHA:94147
HP:0002059	Cerebral atrophy	10159	ATP6AP2	OMIM:300423
HP:0002059	Cerebral atrophy	57017	COQ9	OMIM:614654
HP:0002059	Cerebral atrophy	22907	DHX30	OMIM:617804
HP:0002059	Cerebral atrophy	7407	VARS1	OMIM:617802
HP:0002059	Cerebral atrophy	10664	CTCF	OMIM:615502
HP:0002059	Cerebral atrophy	26123	TCTN3	OMIM:258860
HP:0002059	Cerebral atrophy	10075	HUWE1	OMIM:309590
HP:0002059	Cerebral atrophy	91949	COG7	OMIM:608779
HP:0002059	Cerebral atrophy	79621	RNASEH2B	OMIM:610181
HP:0002059	Cerebral atrophy	7167	TPI1	OMIM:615512
HP:0002059	Cerebral atrophy	64116	SLC39A8	OMIM:616721
HP:0002059	Cerebral atrophy	132	ADK	OMIM:614300
HP:0002059	Cerebral atrophy	6513	SLC2A1	OMIM:612126
HP:0002059	Cerebral atrophy	53616	ADAM22	OMIM:617933
HP:0002059	Cerebral atrophy	546	ATRX	OMIM:301040
HP:0002059	Cerebral atrophy	8050	PDHX	ORPHA:255182
HP:0002059	Cerebral atrophy	2258	FGF13	OMIM:301058
HP:0002059	Cerebral atrophy	9150	CTDP1	OMIM:604168
HP:0002059	Cerebral atrophy	9131	AIFM1	ORPHA:83629
HP:0002059	Cerebral atrophy	5859	QARS1	OMIM:615760
HP:0002059	Cerebral atrophy	5160	PDHA1	OMIM:312170
HP:0002059	Cerebral atrophy	5160	PDHA1	ORPHA:79243
HP:0002059	Cerebral atrophy	1806	DPYD	OMIM:274270
HP:0002059	Cerebral atrophy	1806	DPYD	ORPHA:1675
HP:0002059	Cerebral atrophy	51010	EXOSC3	OMIM:614678
HP:0002059	Cerebral atrophy	54822	TRPM7	OMIM:105500
HP:0002059	Cerebral atrophy	2891	GRIA2	OMIM:618917
HP:0002059	Cerebral atrophy	55906	ZC4H2	OMIM:314580
HP:0002059	Cerebral atrophy	23732	FRRS1L	OMIM:616981
HP:0002059	Cerebral atrophy	6709	SPTAN1	OMIM:613477
HP:0002059	Cerebral atrophy	2058	EPRS1	OMIM:617951
HP:0002059	Cerebral atrophy	80746	TSEN2	OMIM:612389
HP:0002059	Cerebral atrophy	2917	GRM7	OMIM:618922
HP:0002059	Cerebral atrophy	29940	DSE	OMIM:615539
HP:0002059	Cerebral atrophy	9361	LONP1	ORPHA:79243
HP:0002059	Cerebral atrophy	5422	POLA1	OMIM:301030
HP:0002059	Cerebral atrophy	57511	COG6	OMIM:614576
HP:0002059	Cerebral atrophy	175	AGA	OMIM:208400
HP:0002059	Cerebral atrophy	25839	COG4	OMIM:613489
HP:0002059	Cerebral atrophy	128989	TANGO2	OMIM:616878
HP:0002059	Cerebral atrophy	55644	OSGEP	OMIM:617729
HP:0002059	Cerebral atrophy	57572	DOCK6	OMIM:614219
HP:0002059	Cerebral atrophy	2313	FLI1	ORPHA:2308
HP:0002059	Cerebral atrophy	9997	SCO2	OMIM:604377
HP:0002059	Cerebral atrophy	112858	TP53RK	OMIM:617730
HP:0002059	Cerebral atrophy	11019	LIAS	OMIM:614462
HP:0002059	Cerebral atrophy	8270	LAGE3	OMIM:301006
HP:0002059	Cerebral atrophy	6812	STXBP1	OMIM:612164
HP:0002059	Cerebral atrophy	2517	FUCA1	OMIM:230000
HP:0002059	Cerebral atrophy	4337	MOCS1	OMIM:252150
HP:0002059	Cerebral atrophy	23040	MYT1L	OMIM:616521
HP:0002059	Cerebral atrophy	3704	ITPA	OMIM:616647
HP:0002059	Cerebral atrophy	25914	RTTN	ORPHA:468631
HP:0002059	Cerebral atrophy	203228	C9orf72	OMIM:105550
HP:0002059	Cerebral atrophy	80781	COL18A1	OMIM:267750
HP:0002059	Cerebral atrophy	6509	SLC1A4	OMIM:616657
HP:0002059	Cerebral atrophy	617	BCS1L	OMIM:124000
HP:0002059	Cerebral atrophy	4094	MAF	OMIM:601088
HP:0002059	Cerebral atrophy	95	ACY1	OMIM:609924
HP:0002059	Cerebral atrophy	54802	TRIT1	OMIM:617873
HP:0002059	Cerebral atrophy	29920	PYCR2	OMIM:616420
HP:0002059	Cerebral atrophy	26503	SLC17A5	OMIM:269920
HP:0002059	Cerebral atrophy	9197	SLC33A1	OMIM:614482
HP:0002059	Cerebral atrophy	200205	IBA57	OMIM:615330
HP:0002059	Cerebral atrophy	10274	STAG1	OMIM:617635
HP:0002059	Cerebral atrophy	5538	PPT1	OMIM:256730
HP:0002059	Cerebral atrophy	2806	GOT2	OMIM:618721
HP:0002059	Cerebral atrophy	25974	MMACHC	ORPHA:79282
HP:0002059	Cerebral atrophy	3778	KCNMA1	OMIM:618729
HP:0002059	Cerebral atrophy	2639	GCDH	OMIM:231670
HP:0002059	Cerebral atrophy	4204	MECP2	ORPHA:209370
HP:0002059	Cerebral atrophy	51075	TMX2	OMIM:618730
HP:0002059	Cerebral atrophy	8884	SLC5A6	OMIM:618973
HP:0002059	Cerebral atrophy	7305	TYROBP	OMIM:221770
HP:0002059	Cerebral atrophy	55331	ACER3	OMIM:617762
HP:0002059	Cerebral atrophy	2902	GRIN1	OMIM:614254
HP:0002059	Cerebral atrophy	8803	SUCLA2	OMIM:612073
HP:0002059	Cerebral atrophy	22978	NT5C2	OMIM:613162
HP:0002059	Cerebral atrophy	92935	MARS2	OMIM:616430
HP:0002059	Cerebral atrophy	79587	CARS2	OMIM:616672
HP:0002059	Cerebral atrophy	22827	PUF60	OMIM:615583
HP:0002059	Cerebral atrophy	7543	ZFX	OMIM:301118
HP:0002059	Cerebral atrophy	85378	TUBGCP6	OMIM:251270
HP:0002059	Cerebral atrophy	547	KIF1A	OMIM:614255
HP:0002059	Cerebral atrophy	55753	OGDHL	OMIM:619701
HP:0002059	Cerebral atrophy	22868	FASTKD2	OMIM:618855
HP:0002059	Cerebral atrophy	25792	CIZ1	ORPHA:420492
HP:0002059	Cerebral atrophy	400916	CHCHD10	OMIM:615911
HP:0002059	Cerebral atrophy	673	BRAF	OMIM:115150
HP:0002059	Cerebral atrophy	673	BRAF	ORPHA:1340
HP:0002059	Cerebral atrophy	54820	NDE1	ORPHA:2177
HP:0002059	Cerebral atrophy	7360	UGP2	OMIM:618744
HP:0002059	Cerebral atrophy	5457	POU4F1	ORPHA:314647
HP:0002059	Cerebral atrophy	23261	CAMTA1	ORPHA:314647
HP:0002059	Cerebral atrophy	23261	CAMTA1	OMIM:614756
HP:0002059	Cerebral atrophy	8496	PPFIBP1	OMIM:620024
HP:0002059	Cerebral atrophy	51816	ADA2	ORPHA:820
HP:0002059	Cerebral atrophy	6687	SPG7	ORPHA:99013
HP:0002059	Cerebral atrophy	6687	SPG7	OMIM:607259
HP:0002059	Cerebral atrophy	54209	TREM2	OMIM:618193
HP:0002059	Cerebral atrophy	54209	TREM2	ORPHA:1020
HP:0002059	Cerebral atrophy	54209	TREM2	ORPHA:2770
HP:0002059	Cerebral atrophy	4125	MAN2B1	ORPHA:309282
HP:0002059	Cerebral atrophy	4125	MAN2B1	ORPHA:309288
HP:0002059	Cerebral atrophy	4125	MAN2B1	OMIM:248500
HP:0002059	Cerebral atrophy	51112	TRAPPC12	ORPHA:500144
HP:0002059	Cerebral atrophy	51112	TRAPPC12	OMIM:617669
HP:0002059	Cerebral atrophy	54968	TMEM70	ORPHA:1194
HP:0002059	Cerebral atrophy	3020	H3-3A	OMIM:619720
HP:0002059	Cerebral atrophy	8722	CTSF	OMIM:615362
HP:0002059	Cerebral atrophy	387787	LIPT2	OMIM:617668
HP:0002059	Cerebral atrophy	84520	GON7	OMIM:619603
HP:0002059	Cerebral atrophy	23431	AP4E1	OMIM:613744
HP:0002059	Cerebral atrophy	23431	AP4E1	ORPHA:280763
HP:0002059	Cerebral atrophy	10978	CLP1	OMIM:615803
HP:0002059	Cerebral atrophy	79158	GNPTAB	OMIM:252500
HP:0002059	Cerebral atrophy	271	AMPD2	OMIM:615809
HP:0002059	Cerebral atrophy	5189	PEX1	OMIM:214100
HP:0002059	Cerebral atrophy	55650	PIGV	OMIM:239300
HP:0002059	Cerebral atrophy	2192	FBLN1	ORPHA:404451
HP:0002059	Cerebral atrophy	348	APOE	OMIM:607822
HP:0002059	Cerebral atrophy	5663	PSEN1	OMIM:607822
HP:0002059	Cerebral atrophy	5663	PSEN1	ORPHA:1020
HP:0002059	Cerebral atrophy	51360	MBTPS2	ORPHA:2273
HP:0002059	Cerebral atrophy	5832	ALDH18A1	OMIM:616586
HP:0002059	Cerebral atrophy	5832	ALDH18A1	ORPHA:447760
HP:0002059	Cerebral atrophy	4509	MT-ATP8	ORPHA:254913
HP:0002059	Cerebral atrophy	514	ATP5F1E	ORPHA:254913
HP:0002059	Cerebral atrophy	513	ATP5F1D	ORPHA:254913
HP:0002059	Cerebral atrophy	498	ATP5F1A	ORPHA:254913
HP:0002059	Cerebral atrophy	4508	MT-ATP6	ORPHA:254913
HP:0002059	Cerebral atrophy	4508	MT-ATP6	ORPHA:644
HP:0002059	Cerebral atrophy	84833	ATP5MK	ORPHA:254913
HP:0002059	Cerebral atrophy	91647	ATPAF2	ORPHA:254913
HP:0002059	Cerebral atrophy	9326	ZNHIT3	ORPHA:2836
HP:0002059	Cerebral atrophy	6496	SIX3	OMIM:269160
HP:0002059	Cerebral atrophy	2018	EMX2	OMIM:269160
HP:0002059	Cerebral atrophy	5191	PEX7	OMIM:215100
HP:0002059	Cerebral atrophy	2332	FMR1	ORPHA:93256
HP:0002059	Cerebral atrophy	2332	FMR1	ORPHA:908
HP:0002059	Cerebral atrophy	23400	ATP13A2	ORPHA:513436
HP:0002059	Cerebral atrophy	23400	ATP13A2	ORPHA:306674
HP:0002059	Cerebral atrophy	23400	ATP13A2	OMIM:617225
HP:0002059	Cerebral atrophy	652	BMP4	OMIM:607932
HP:0002059	Cerebral atrophy	57231	SNX14	OMIM:616354
HP:0002059	Cerebral atrophy	132158	GLYCTK	OMIM:220120
HP:0002059	Cerebral atrophy	10347	ABCA7	OMIM:608907
HP:0002059	Cerebral atrophy	10347	ABCA7	ORPHA:1020
HP:0002059	Cerebral atrophy	246243	RNASEH1	OMIM:616479
HP:0002059	Cerebral atrophy	80208	SPG11	ORPHA:2822
HP:0002059	Cerebral atrophy	80208	SPG11	OMIM:604360
HP:0002059	Cerebral atrophy	51761	ATP8A2	OMIM:615268
HP:0002059	Cerebral atrophy	23230	VPS13A	ORPHA:2388
HP:0002059	Cerebral atrophy	4582	MUC1	OMIM:174000
HP:0002059	Cerebral atrophy	57338	JPH3	ORPHA:98934
HP:0002059	Cerebral atrophy	57338	JPH3	OMIM:606438
HP:0002059	Cerebral atrophy	23265	EXOC7	OMIM:619072
HP:0002059	Cerebral atrophy	699	BUB1	OMIM:620183
HP:0002059	Cerebral atrophy	1798	DPAGT1	ORPHA:86309
HP:0002059	Cerebral atrophy	55699	IARS2	OMIM:616007
HP:0002059	Cerebral atrophy	6804	STX1A	ORPHA:904
HP:0002059	Cerebral atrophy	7461	CLIP2	ORPHA:904
HP:0002059	Cerebral atrophy	84277	DNAJC30	ORPHA:904
HP:0002059	Cerebral atrophy	8468	FKBP6	ORPHA:904
HP:0002059	Cerebral atrophy	5982	RFC2	ORPHA:904
HP:0002059	Cerebral atrophy	2969	GTF2I	ORPHA:904
HP:0002059	Cerebral atrophy	3984	LIMK1	ORPHA:904
HP:0002059	Cerebral atrophy	9569	GTF2IRD1	ORPHA:904
HP:0002059	Cerebral atrophy	155382	VPS37D	ORPHA:904
HP:0002059	Cerebral atrophy	155368	METTL27	ORPHA:904
HP:0002059	Cerebral atrophy	114049	BUD23	ORPHA:904
HP:0002059	Cerebral atrophy	7458	EIF4H	ORPHA:904
HP:0002059	Cerebral atrophy	84163	GTF2IRD2	ORPHA:904
HP:0002059	Cerebral atrophy	26608	TBL2	ORPHA:904
HP:0002059	Cerebral atrophy	653361	NCF1	ORPHA:904
HP:0002059	Cerebral atrophy	135886	TMEM270	ORPHA:904
HP:0002059	Cerebral atrophy	9031	BAZ1B	ORPHA:904
HP:0002059	Cerebral atrophy	2006	ELN	ORPHA:904
HP:0002059	Cerebral atrophy	11340	EXOSC8	ORPHA:2254
HP:0002059	Cerebral atrophy	11340	EXOSC8	OMIM:616081
HP:0002059	Cerebral atrophy	23287	AGTPBP1	ORPHA:2254
HP:0002059	Cerebral atrophy	7443	VRK1	ORPHA:2254
HP:0002059	Cerebral atrophy	7443	VRK1	OMIM:607596
HP:0002059	Cerebral atrophy	91137	SLC25A46	ORPHA:2254
HP:0002059	Cerebral atrophy	4191	MDH2	OMIM:617339
HP:0002059	Cerebral atrophy	5590	PRKCZ	ORPHA:1606
HP:0002059	Cerebral atrophy	2563	GABRD	ORPHA:1606
HP:0002059	Cerebral atrophy	23013	SPEN	ORPHA:1606
HP:0002059	Cerebral atrophy	8510	MMP23B	ORPHA:1606
HP:0002059	Cerebral atrophy	7798	LUZP1	ORPHA:1606
HP:0002059	Cerebral atrophy	6497	SKI	ORPHA:1606
HP:0002059	Cerebral atrophy	10630	PDPN	ORPHA:1606
HP:0002059	Cerebral atrophy	3339	HSPG2	ORPHA:1606
HP:0002059	Cerebral atrophy	10277	UBE4B	ORPHA:1606
HP:0002059	Cerebral atrophy	8514	KCNAB2	ORPHA:1606
HP:0002059	Cerebral atrophy	473	RERE	ORPHA:1606
HP:0002059	Cerebral atrophy	63976	PRDM16	ORPHA:1606
HP:0002059	Cerebral atrophy	54897	CASZ1	ORPHA:1606
HP:0002059	Cerebral atrophy	493856	CISD2	ORPHA:3463
HP:0002059	Cerebral atrophy	7337	UBE3A	OMIM:105830
HP:0002059	Cerebral atrophy	6638	SNRPN	OMIM:105830
HP:0002059	Cerebral atrophy	6638	SNRPN	ORPHA:177907
HP:0002059	Cerebral atrophy	1859	DYRK1A	ORPHA:464311
HP:0002059	Cerebral atrophy	1859	DYRK1A	ORPHA:268261
HP:0002059	Cerebral atrophy	1859	DYRK1A	OMIM:614104
HP:0002059	Cerebral atrophy	80025	PANK2	OMIM:234200
HP:0002059	Cerebral atrophy	2896	GRN	OMIM:607485
HP:0002059	Cerebral atrophy	11128	POLR3A	ORPHA:447896
HP:0002059	Cerebral atrophy	11128	POLR3A	OMIM:607694
HP:0002059	Cerebral atrophy	8517	IKBKG	ORPHA:464
HP:0002059	Cerebral atrophy	4644	MYO5A	ORPHA:33445
HP:0002059	Cerebral atrophy	51633	OTUD6B	ORPHA:505237
HP:0002059	Cerebral atrophy	5621	PRNP	ORPHA:157941
HP:0002059	Cerebral atrophy	56098	PCDHGC4	OMIM:619880
HP:0002059	Cerebral atrophy	54499	TMCO1	ORPHA:1394
HP:0002059	Cerebral atrophy	9562	MINPP1	OMIM:619527
HP:0002059	Cerebral atrophy	6311	ATXN2	ORPHA:98756
HP:0002059	Cerebral atrophy	8573	CASK	ORPHA:163937
HP:0002059	Cerebral atrophy	54941	RNF125	OMIM:616260
HP:0002059	Cerebral atrophy	25782	RAB3GAP2	ORPHA:1387
HP:0002059	Cerebral atrophy	25782	RAB3GAP2	ORPHA:401830
HP:0002059	Cerebral atrophy	25782	RAB3GAP2	ORPHA:2510
HP:0002059	Cerebral atrophy	25836	NIPBL	OMIM:122470
HP:0002059	Cerebral atrophy	25836	NIPBL	ORPHA:199
HP:0002059	Cerebral atrophy	283989	TSEN54	OMIM:277470
HP:0002059	Cerebral atrophy	5664	PSEN2	ORPHA:1020
HP:0002059	Cerebral atrophy	10452	TOMM40	ORPHA:1020
HP:0002059	Cerebral atrophy	351	APP	ORPHA:1020
HP:0002059	Cerebral atrophy	6653	SORL1	ORPHA:1020
HP:0002059	Cerebral atrophy	404672	GTF2H5	ORPHA:33364
HP:0002059	Cerebral atrophy	2068	ERCC2	ORPHA:33364
HP:0002059	Cerebral atrophy	2068	ERCC2	ORPHA:910
HP:0002059	Cerebral atrophy	2068	ERCC2	ORPHA:1466
HP:0002059	Cerebral atrophy	7737	RNF113A	ORPHA:33364
HP:0002059	Cerebral atrophy	136647	MPLKIP	ORPHA:33364
HP:0002059	Cerebral atrophy	136647	MPLKIP	OMIM:234050
HP:0002059	Cerebral atrophy	6897	TARS1	ORPHA:33364
HP:0002059	Cerebral atrophy	2071	ERCC3	ORPHA:33364
HP:0002059	Cerebral atrophy	2071	ERCC3	ORPHA:910
HP:0002059	Cerebral atrophy	2961	GTF2E2	ORPHA:33364
HP:0002059	Cerebral atrophy	51750	RTEL1	ORPHA:3322
HP:0002059	Cerebral atrophy	65057	ACD	ORPHA:3322
HP:0002059	Cerebral atrophy	5073	PARN	ORPHA:3322
HP:0002059	Cerebral atrophy	7015	TERT	ORPHA:3322
HP:0002059	Cerebral atrophy	26277	TINF2	ORPHA:3322
HP:0002059	Cerebral atrophy	1736	DKC1	ORPHA:3322
HP:0002059	Cerebral atrophy	79053	ALG8	ORPHA:79325
HP:0002059	Cerebral atrophy	2776	GNAQ	ORPHA:3205
HP:0002059	Cerebral atrophy	2776	GNAQ	OMIM:185300
HP:0002059	Cerebral atrophy	8295	TRRAP	OMIM:618454
HP:0002059	Cerebral atrophy	2583	B4GALNT1	OMIM:609195
HP:0002059	Cerebral atrophy	2583	B4GALNT1	ORPHA:101006
HP:0002059	Cerebral atrophy	11232	POLG2	OMIM:619425
HP:0002059	Cerebral atrophy	57724	EPG5	ORPHA:1493
HP:0002059	Cerebral atrophy	81603	TRIM8	OMIM:619428
HP:0002059	Cerebral atrophy	7507	XPA	ORPHA:910
HP:0002059	Cerebral atrophy	7508	XPC	ORPHA:910
HP:0002059	Cerebral atrophy	1643	DDB2	ORPHA:910
HP:0002059	Cerebral atrophy	2072	ERCC4	ORPHA:910
HP:0002059	Cerebral atrophy	2073	ERCC5	ORPHA:910
HP:0002059	Cerebral atrophy	2073	ERCC5	ORPHA:1466
HP:0002059	Cerebral atrophy	55703	POLR3B	OMIM:607694
HP:0002059	Cerebral atrophy	4558	MT-TF	ORPHA:550
HP:0002059	Cerebral atrophy	4572	MT-TQ	ORPHA:550
HP:0002059	Cerebral atrophy	4512	MT-CO1	ORPHA:550
HP:0002059	Cerebral atrophy	4513	MT-CO2	ORPHA:550
HP:0002059	Cerebral atrophy	4514	MT-CO3	ORPHA:550
HP:0002059	Cerebral atrophy	4578	MT-TW	ORPHA:550
HP:0002059	Cerebral atrophy	4540	MT-ND5	ORPHA:550
HP:0002059	Cerebral atrophy	4541	MT-ND6	ORPHA:550
HP:0002059	Cerebral atrophy	4535	MT-ND1	ORPHA:550
HP:0002059	Cerebral atrophy	4538	MT-ND4	ORPHA:550
HP:0002059	Cerebral atrophy	4574	MT-TS1	ORPHA:550
HP:0002059	Cerebral atrophy	4575	MT-TS2	ORPHA:550
HP:0002059	Cerebral atrophy	4564	MT-TH	ORPHA:550
HP:0002059	Cerebral atrophy	27238	GPKOW	ORPHA:2570
HP:0002059	Cerebral atrophy	8925	HERC1	OMIM:617011
HP:0002059	Cerebral atrophy	8925	HERC1	ORPHA:457359
HP:0002059	Cerebral atrophy	54832	VPS13C	OMIM:616840
HP:0002059	Cerebral atrophy	55746	NUP133	OMIM:618349
HP:0002059	Cerebral atrophy	79813	EHMT1	ORPHA:96147
HP:0002059	Cerebral atrophy	57679	ALS2	OMIM:606353
HP:0002059	Cerebral atrophy	27249	MMADHC	OMIM:277410
HP:0002059	Cerebral atrophy	55630	SLC39A4	ORPHA:37
HP:0002059	Cerebral atrophy	116461	TSEN15	OMIM:617026
HP:0002059	Cerebral atrophy	8085	KMT2D	ORPHA:2322
HP:0002059	Cerebral atrophy	7403	KDM6A	ORPHA:2322
HP:0002059	Cerebral atrophy	998	CDC42	OMIM:616737
HP:0002059	Cerebral atrophy	50	ACO2	OMIM:614559
HP:0002059	Cerebral atrophy	8890	EIF2B4	OMIM:620314
HP:0002059	Cerebral atrophy	10166	SLC25A15	ORPHA:415
HP:0002059	Cerebral atrophy	10166	SLC25A15	OMIM:238970
HP:0002059	Cerebral atrophy	6904	TBCD	ORPHA:496641
HP:0002059	Cerebral atrophy	29925	GMPPB	ORPHA:370968
HP:0002059	Cerebral atrophy	79147	FKRP	ORPHA:370968
HP:0002059	Cerebral atrophy	29954	POMT2	ORPHA:370968
HP:0002059	Cerebral atrophy	29954	POMT2	OMIM:613156
HP:0002059	Cerebral atrophy	9215	LARGE1	ORPHA:370968
HP:0002059	Cerebral atrophy	10585	POMT1	ORPHA:370968
HP:0002059	Cerebral atrophy	56915	EXOSC5	OMIM:619576
HP:0002059	Cerebral atrophy	23221	RHOBTB2	OMIM:618004
HP:0002059	Cerebral atrophy	166378	AFG2A	ORPHA:457351
HP:0002059	Cerebral atrophy	2067	ERCC1	ORPHA:1466
HP:0002059	Cerebral atrophy	54834	GDAP2	OMIM:618369
HP:0002059	Cerebral atrophy	400569	MED11	OMIM:620327
HP:0002059	Cerebral atrophy	23317	DNAJC13	ORPHA:411602
HP:0002059	Cerebral atrophy	1981	EIF4G1	ORPHA:411602
HP:0002059	Cerebral atrophy	55737	VPS35	ORPHA:411602
HP:0002059	Cerebral atrophy	120892	LRRK2	ORPHA:411602
HP:0002059	Cerebral atrophy	26058	GIGYF2	ORPHA:411602
HP:0002059	Cerebral atrophy	6622	SNCA	ORPHA:411602
HP:0002059	Cerebral atrophy	5604	MAP2K1	ORPHA:1340
HP:0002059	Cerebral atrophy	5605	MAP2K2	ORPHA:1340
HP:0002059	Cerebral atrophy	51608	GET4	OMIM:620200
HP:0002059	Cerebral atrophy	100506658	OCLN	ORPHA:1229
HP:0002059	Cerebral atrophy	9758	FRMPD4	OMIM:300983
HP:0002059	Cerebral atrophy	83696	TRAPPC9	ORPHA:352530
HP:0002059	Cerebral atrophy	128637	TBC1D20	OMIM:615663
HP:0002059	Cerebral atrophy	128637	TBC1D20	ORPHA:2510
HP:0002059	Cerebral atrophy	23476	BRD4	ORPHA:199
HP:0002059	Cerebral atrophy	9126	SMC3	ORPHA:199
HP:0002059	Cerebral atrophy	8243	SMC1A	ORPHA:199
HP:0002059	Cerebral atrophy	6878	TAF6	ORPHA:199
HP:0002059	Cerebral atrophy	55869	HDAC8	ORPHA:199
HP:0002059	Cerebral atrophy	5885	RAD21	ORPHA:199
HP:0002059	Cerebral atrophy	9791	PTDSS1	OMIM:151050
HP:0002059	Cerebral atrophy	7399	USH2A	ORPHA:231178
HP:0002059	Cerebral atrophy	79955	PDZD7	ORPHA:231178
HP:0002059	Cerebral atrophy	4647	MYO7A	ORPHA:231178
HP:0002059	Cerebral atrophy	4647	MYO7A	ORPHA:231169
HP:0002059	Cerebral atrophy	25861	WHRN	ORPHA:231178
HP:0002059	Cerebral atrophy	84059	ADGRV1	ORPHA:231178
HP:0002059	Cerebral atrophy	6197	RPS6KA3	ORPHA:192
HP:0002059	Cerebral atrophy	10815	CPLX1	OMIM:617976
HP:0002059	Cerebral atrophy	22931	RAB18	OMIM:614222
HP:0002059	Cerebral atrophy	22931	RAB18	ORPHA:2510
HP:0002059	Cerebral atrophy	10283	CWC27	OMIM:250410
HP:0002059	Cerebral atrophy	10283	CWC27	ORPHA:166035
HP:0002059	Cerebral atrophy	8905	AP1S2	ORPHA:1568
HP:0002059	Cerebral atrophy	60558	GUF1	OMIM:617065
HP:0002059	Cerebral atrophy	122553	TRAPPC6B	OMIM:617862
HP:0002059	Cerebral atrophy	57688	ZSWIM6	OMIM:617865
HP:0002059	Cerebral atrophy	2893	GRIA4	OMIM:617864
HP:0002059	Cerebral atrophy	79152	FA2H	ORPHA:171629
HP:0002059	Cerebral atrophy	55164	SHQ1	OMIM:619922
HP:0002059	Cerebral atrophy	6785	ELOVL4	OMIM:133190
HP:0002059	Cerebral atrophy	3090	HIC1	ORPHA:531
HP:0002059	Cerebral atrophy	5048	PAFAH1B1	ORPHA:531
HP:0002059	Cerebral atrophy	7531	YWHAE	ORPHA:531
HP:0002059	Cerebral atrophy	10717	AP4B1	ORPHA:280763
HP:0002059	Cerebral atrophy	9179	AP4M1	ORPHA:280763
HP:0002059	Cerebral atrophy	11154	AP4S1	ORPHA:280763
HP:0002059	Cerebral atrophy	25978	CHMP2B	OMIM:600795
HP:0002059	Cerebral atrophy	340533	NEXMIF	ORPHA:85277
HP:0002059	Cerebral atrophy	10479	SLC9A6	ORPHA:85278
HP:0002059	Cerebral atrophy	777	CACNA1E	OMIM:618285
HP:0002059	Cerebral atrophy	1203	CLN5	OMIM:256731
HP:0002059	Cerebral atrophy	27229	TUBGCP4	ORPHA:2518
HP:0002059	Cerebral atrophy	55005	RMND1	OMIM:614922
HP:0002059	Cerebral atrophy	4693	NDP	ORPHA:649
HP:0002059	Cerebral atrophy	71	ACTG1	ORPHA:2995
HP:0002059	Cerebral atrophy	60	ACTB	ORPHA:2995
HP:0002059	Cerebral atrophy	2801	GOLGA2	OMIM:620240
HP:0002059	Cerebral atrophy	23299	BICD2	OMIM:618291
HP:0002059	Cerebral atrophy	64072	CDH23	ORPHA:231169
HP:0002059	Cerebral atrophy	10083	USH1C	ORPHA:231169
HP:0002059	Cerebral atrophy	124590	USH1G	ORPHA:231169
HP:0002059	Cerebral atrophy	83715	ESPN	ORPHA:231169
HP:0002059	Cerebral atrophy	10518	CIB2	ORPHA:231169
HP:0002059	Cerebral atrophy	65217	PCDH15	ORPHA:231169
HP:0002059	Cerebral atrophy	23404	EXOSC2	OMIM:617763
HP:0002059	Cerebral atrophy	221692	PHACTR1	OMIM:618298
HP:0002059	Cerebral atrophy	4858	NOVA2	OMIM:618859
HP:0002059	Cerebral atrophy	29110	TBK1	OMIM:616439
HP:0002059	Cerebral atrophy	9373	PLAA	OMIM:617527
HP:0002059	Cerebral atrophy	170302	ARX	ORPHA:2508
HP:0002059	Cerebral atrophy	8878	SQSTM1	OMIM:616437
HP:0002059	Cerebral atrophy	5052	PRDX1	OMIM:277400
HP:0002059	Cerebral atrophy	267010	RNU12	ORPHA:512260
HP:0002059	Cerebral atrophy	5654	HTRA1	ORPHA:199354
HP:0002059	Cerebral atrophy	3735	KARS1	ORPHA:3240
HP:0002059	Cerebral atrophy	27235	COQ2	OMIM:607426
HP:0002059	Cerebral atrophy	64601	VPS16	OMIM:619291
HP:0002059	Cerebral atrophy	7384	UQCRC1	OMIM:619279
HP:0002059	Cerebral atrophy	22796	COG2	OMIM:617395
HP:0002059	Cerebral atrophy	22796	COG2	ORPHA:435934
HP:0002059	Cerebral atrophy	686	BTD	OMIM:253260
HP:0002059	Cerebral atrophy	2581	GALC	ORPHA:206436
HP:0002059	Cerebral atrophy	2581	GALC	OMIM:245200
HP:0002059	Cerebral atrophy	5660	PSAP	ORPHA:206436
HP:0002059	Cerebral atrophy	1717	DHCR7	OMIM:270400
HP:0002059	Cerebral atrophy	23203	PMPCA	ORPHA:1170
HP:0002059	Cerebral atrophy	2232	FDXR	ORPHA:543470
HP:0002059	Cerebral atrophy	2903	GRIN2A	ORPHA:289266
HP:0002059	Cerebral atrophy	5575	PRKAR1B	ORPHA:412066
HP:0002059	Cerebral atrophy	51473	DCDC2	ORPHA:84081
HP:0002059	Cerebral atrophy	91147	TMEM67	ORPHA:84081
HP:0002059	Cerebral atrophy	9440	MED17	OMIM:613668
HP:0002059	Cerebral atrophy	6792	CDKL5	ORPHA:1934
HP:0002059	Cerebral atrophy	3736	KCNA1	ORPHA:1934
HP:0002059	Cerebral atrophy	9091	PIGQ	ORPHA:1934
HP:0002059	Cerebral atrophy	150094	SIK1	ORPHA:1934
HP:0002059	Cerebral atrophy	23312	DMXL2	ORPHA:1934
HP:0002059	Cerebral atrophy	11284	PNKP	ORPHA:1934
HP:0002059	Cerebral atrophy	51227	PIGP	ORPHA:1934
HP:0002059	Cerebral atrophy	6324	SCN1B	ORPHA:1934
HP:0002059	Cerebral atrophy	6908	TBP	OMIM:607136
HP:0002059	Cerebral atrophy	7074	TIAM1	OMIM:619908
HP:0002059	Cerebral atrophy	79989	IFT56	OMIM:619534
HP:0002059	Cerebral atrophy	54664	TMEM106B	ORPHA:275864
HP:0002059	Cerebral atrophy	54664	TMEM106B	ORPHA:100070
HP:0002059	Cerebral atrophy	7415	VCP	ORPHA:275864
HP:0002059	Cerebral atrophy	7415	VCP	ORPHA:100070
HP:0002059	Cerebral atrophy	4208	MEF2C	ORPHA:228384
HP:0002059	Cerebral atrophy	2892	GRIA3	OMIM:300699
HP:0002059	Cerebral atrophy	4983	OPHN1	ORPHA:137831
HP:0002059	Cerebral atrophy	55681	SCYL2	OMIM:618766
HP:0002059	Cerebral atrophy	3097	HIVEP2	OMIM:616977
HP:0002059	Cerebral atrophy	1528	CYB5A	ORPHA:621
HP:0002059	Cerebral atrophy	1727	CYB5R3	ORPHA:621
HP:0002059	Cerebral atrophy	6335	SCN9A	ORPHA:36387
HP:0002059	Cerebral atrophy	112755	STX1B	ORPHA:36387
HP:0002059	Cerebral atrophy	112476	PRRT2	ORPHA:36387
HP:0002059	Cerebral atrophy	5147	PDE6D	OMIM:615665
HP:0002059	Cerebral atrophy	104	ADARB1	OMIM:618862
HP:0002059	Cerebral atrophy	10273	STUB1	ORPHA:412057
HP:0002059	Cerebral atrophy	4692	NDN	ORPHA:177904
HP:0002059	Cerebral atrophy	4692	NDN	ORPHA:177901
HP:0002059	Cerebral atrophy	4692	NDN	ORPHA:98754
HP:0002059	Cerebral atrophy	54551	MAGEL2	ORPHA:177904
HP:0002059	Cerebral atrophy	54551	MAGEL2	ORPHA:177901
HP:0002059	Cerebral atrophy	54551	MAGEL2	ORPHA:98754
HP:0002059	Cerebral atrophy	4948	OCA2	ORPHA:177904
HP:0002059	Cerebral atrophy	4948	OCA2	ORPHA:177901
HP:0002059	Cerebral atrophy	4948	OCA2	ORPHA:98754
HP:0002059	Cerebral atrophy	26278	SACS	ORPHA:98
HP:0002059	Cerebral atrophy	5927	KDM5A	OMIM:620820
HP:0002059	Cerebral atrophy	10430	TMEM147	OMIM:620075
HP:0002059	Cerebral atrophy	85440	DOCK7	ORPHA:411986
HP:0002059	Cerebral atrophy	100151683	RNU4ATAC	ORPHA:353298
HP:0002059	Cerebral atrophy	57094	CPA6	OMIM:614418
HP:0002059	Cerebral atrophy	29998	BICRA	OMIM:619325
HP:0002059	Cerebral atrophy	4750	NEK1	OMIM:617892
HP:0002059	Cerebral atrophy	84631	SLITRK2	OMIM:301107
HP:0002423	Long-tract sign	1593	CYP27A1	ORPHA:909
HP:0002423	Long-tract sign	85465	SELENOI	ORPHA:506353
HP:0002423	Long-tract sign	85465	SELENOI	OMIM:618768
HP:0002423	Long-tract sign	6515	SLC2A3	ORPHA:399
HP:0002423	Long-tract sign	26235	FBXL4	OMIM:615471
HP:0002423	Long-tract sign	10159	ATP6AP2	OMIM:300911
HP:0002423	Long-tract sign	10159	ATP6AP2	ORPHA:93952
HP:0002423	Long-tract sign	10159	ATP6AP2	OMIM:300423
HP:0002423	Long-tract sign	10159	ATP6AP2	ORPHA:363654
HP:0002423	Long-tract sign	9853	RUSC2	OMIM:617773
HP:0002423	Long-tract sign	27247	NFU1	OMIM:620938
HP:0002423	Long-tract sign	23446	SLC44A1	OMIM:618868
HP:0002423	Long-tract sign	3145	HMBS	OMIM:620704
HP:0002423	Long-tract sign	2895	GRID2	OMIM:616204
HP:0002423	Long-tract sign	1786	DNMT1	ORPHA:314404
HP:0002423	Long-tract sign	57165	GJC2	OMIM:608804
HP:0002423	Long-tract sign	57165	GJC2	OMIM:613206
HP:0002423	Long-tract sign	10908	PNPLA6	ORPHA:139480
HP:0002423	Long-tract sign	10908	PNPLA6	OMIM:215470
HP:0002423	Long-tract sign	10908	PNPLA6	OMIM:612020
HP:0002423	Long-tract sign	8722	CTSF	OMIM:615362
HP:0002423	Long-tract sign	1644	DDC	ORPHA:35708
HP:0002423	Long-tract sign	1644	DDC	OMIM:608643
HP:0002423	Long-tract sign	200205	IBA57	OMIM:616451
HP:0002423	Long-tract sign	200205	IBA57	ORPHA:468661
HP:0002423	Long-tract sign	10528	NOP56	OMIM:614153
HP:0002423	Long-tract sign	10528	NOP56	ORPHA:276198
HP:0002423	Long-tract sign	1841	DTYMK	OMIM:619847
HP:0002423	Long-tract sign	57156	TMEM63C	OMIM:619966
HP:0002423	Long-tract sign	57231	SNX14	ORPHA:397709
HP:0002423	Long-tract sign	57231	SNX14	OMIM:616354
HP:0002423	Long-tract sign	410	ARSA	ORPHA:309271
HP:0002423	Long-tract sign	410	ARSA	ORPHA:309263
HP:0002423	Long-tract sign	410	ARSA	OMIM:250100
HP:0002423	Long-tract sign	410	ARSA	ORPHA:309256
HP:0002423	Long-tract sign	5660	PSAP	ORPHA:309271
HP:0002423	Long-tract sign	5660	PSAP	ORPHA:309263
HP:0002423	Long-tract sign	5660	PSAP	OMIM:611721
HP:0002423	Long-tract sign	5660	PSAP	ORPHA:309256
HP:0002423	Long-tract sign	5660	PSAP	OMIM:249900
HP:0002423	Long-tract sign	219285	SAMD9L	OMIM:159550
HP:0002423	Long-tract sign	219285	SAMD9L	OMIM:619806
HP:0002423	Long-tract sign	348	APOE	OMIM:607822
HP:0002423	Long-tract sign	5663	PSEN1	OMIM:607822
HP:0002423	Long-tract sign	7345	UCHL1	OMIM:615491
HP:0002423	Long-tract sign	215	ABCD1	ORPHA:139399
HP:0002423	Long-tract sign	64834	ELOVL1	OMIM:618527
HP:0002423	Long-tract sign	51308	REEP2	OMIM:620606
HP:0002423	Long-tract sign	51308	REEP2	OMIM:615625
HP:0002423	Long-tract sign	311	ANXA11	OMIM:619733
HP:0002423	Long-tract sign	311	ANXA11	ORPHA:803
HP:0002423	Long-tract sign	7920	ABHD16A	OMIM:619735
HP:0002423	Long-tract sign	8560	DEGS1	OMIM:618404
HP:0002423	Long-tract sign	2074	ERCC6	OMIM:278800
HP:0002423	Long-tract sign	343641	TGM6	ORPHA:276193
HP:0002423	Long-tract sign	343641	TGM6	OMIM:613908
HP:0002423	Long-tract sign	857	CAV1	OMIM:606721
HP:0002423	Long-tract sign	55149	MTPAP	ORPHA:254343
HP:0002423	Long-tract sign	55149	MTPAP	OMIM:613672
HP:0002423	Long-tract sign	5297	PI4KA	OMIM:619621
HP:0002423	Long-tract sign	5833	PCYT2	OMIM:618770
HP:0002423	Long-tract sign	51271	UBAP1	OMIM:618418
HP:0002423	Long-tract sign	51271	UBAP1	ORPHA:100993
HP:0002423	Long-tract sign	492	ATP2B3	ORPHA:314978
HP:0002423	Long-tract sign	9897	WASHC5	OMIM:603563
HP:0002423	Long-tract sign	9897	WASHC5	ORPHA:100989
HP:0002423	Long-tract sign	113612	CYP2U1	OMIM:615030
HP:0002423	Long-tract sign	113612	CYP2U1	ORPHA:320411
HP:0002423	Long-tract sign	10717	AP4B1	OMIM:614066
HP:0002423	Long-tract sign	10717	AP4B1	ORPHA:280763
HP:0002423	Long-tract sign	51604	PIGT	OMIM:615398
HP:0002423	Long-tract sign	11154	AP4S1	OMIM:614067
HP:0002423	Long-tract sign	11154	AP4S1	ORPHA:280763
HP:0002423	Long-tract sign	23259	DDHD2	OMIM:615033
HP:0002423	Long-tract sign	54902	TTC19	OMIM:615157
HP:0002423	Long-tract sign	391356	PTRHD1	OMIM:620747
HP:0002423	Long-tract sign	1615	DARS1	OMIM:615281
HP:0002423	Long-tract sign	7358	UGDH	OMIM:618792
HP:0002423	Long-tract sign	9474	ATG5	OMIM:617584
HP:0002423	Long-tract sign	6506	SLC1A2	OMIM:617105
HP:0002423	Long-tract sign	25973	PARS2	OMIM:618437
HP:0002423	Long-tract sign	10667	FARS2	ORPHA:466722
HP:0002423	Long-tract sign	10667	FARS2	OMIM:617046
HP:0002423	Long-tract sign	56652	TWNK	OMIM:271245
HP:0002423	Long-tract sign	56652	TWNK	OMIM:607459
HP:0002423	Long-tract sign	10280	SIGMAR1	OMIM:605726
HP:0002423	Long-tract sign	23299	BICD2	OMIM:615290
HP:0002423	Long-tract sign	5981	RFC1	ORPHA:504476
HP:0002423	Long-tract sign	5917	RARS1	OMIM:616140
HP:0002423	Long-tract sign	339855	KY	ORPHA:496689
HP:0002423	Long-tract sign	2395	FXN	OMIM:229300
HP:0002423	Long-tract sign	2395	FXN	ORPHA:95
HP:0002423	Long-tract sign	9725	TMEM63A	OMIM:618688
HP:0002423	Long-tract sign	10229	COQ7	OMIM:620402
HP:0002423	Long-tract sign	6683	SPAST	OMIM:182601
HP:0002423	Long-tract sign	6683	SPAST	ORPHA:100985
HP:0002423	Long-tract sign	51062	ATL1	OMIM:182600
HP:0002423	Long-tract sign	51062	ATL1	ORPHA:100984
HP:0002423	Long-tract sign	6843	VAMP1	ORPHA:251282
HP:0002423	Long-tract sign	57192	MCOLN1	OMIM:252650
HP:0002423	Long-tract sign	2512	FTL	ORPHA:157846
HP:0002423	Long-tract sign	2512	FTL	OMIM:606159
HP:0002423	Long-tract sign	54344	DPM3	ORPHA:263494
HP:0002423	Long-tract sign	3658	IREB2	OMIM:618451
HP:0002423	Long-tract sign	55280	CWF19L1	ORPHA:453521
HP:0002423	Long-tract sign	2583	B4GALNT1	OMIM:609195
HP:0002423	Long-tract sign	2583	B4GALNT1	ORPHA:101006
HP:0002423	Long-tract sign	5277	PIGA	OMIM:301072
HP:0002423	Long-tract sign	5277	PIGA	OMIM:300868
HP:0002423	Long-tract sign	23111	SPART	OMIM:275900
HP:0002423	Long-tract sign	23111	SPART	ORPHA:101000
HP:0002423	Long-tract sign	126129	CPT1C	OMIM:616282
HP:0002423	Long-tract sign	126129	CPT1C	ORPHA:444099
HP:0002423	Long-tract sign	23516	SLC39A14	OMIM:617013
HP:0002423	Long-tract sign	23516	SLC39A14	ORPHA:521406
HP:0002423	Long-tract sign	23345	SYNE1	ORPHA:88644
HP:0002423	Long-tract sign	4719	NDUFS1	OMIM:618226
HP:0002423	Long-tract sign	51117	COQ4	OMIM:620666
HP:0002423	Long-tract sign	7443	VRK1	OMIM:620542
HP:0002423	Long-tract sign	5428	POLG	OMIM:258450
HP:0002423	Long-tract sign	5428	POLG	OMIM:607459
HP:0002423	Long-tract sign	9256	TSPOAP1	ORPHA:101150
HP:0002423	Long-tract sign	9256	TSPOAP1	OMIM:620456
HP:0002423	Long-tract sign	7054	TH	ORPHA:101150
HP:0002423	Long-tract sign	123606	NIPA1	OMIM:600363
HP:0002423	Long-tract sign	123606	NIPA1	ORPHA:100988
HP:0002423	Long-tract sign	5631	PRPS1	ORPHA:423479
HP:0002423	Long-tract sign	81790	RNF170	OMIM:619686
HP:0002423	Long-tract sign	81790	RNF170	OMIM:608984
HP:0002423	Long-tract sign	23114	NFASC	OMIM:618356
HP:0002423	Long-tract sign	5610	EIF2AK2	OMIM:619687
HP:0002423	Long-tract sign	116461	TSEN15	OMIM:617026
HP:0002423	Long-tract sign	116461	TSEN15	ORPHA:2524
HP:0002423	Long-tract sign	8492	PRSS12	OMIM:249500
HP:0002423	Long-tract sign	157922	CAMSAP1	OMIM:620316
HP:0002423	Long-tract sign	5010	CLDN11	OMIM:619328
HP:0002423	Long-tract sign	2581	GALC	ORPHA:206448
HP:0002423	Long-tract sign	25885	POLR1A	OMIM:620675
HP:0002423	Long-tract sign	9179	AP4M1	OMIM:612936
HP:0002423	Long-tract sign	9179	AP4M1	ORPHA:280763
HP:0002423	Long-tract sign	547	KIF1A	ORPHA:101010
HP:0002423	Long-tract sign	547	KIF1A	OMIM:610357
HP:0002423	Long-tract sign	547	KIF1A	OMIM:614255
HP:0002423	Long-tract sign	5071	PRKN	OMIM:600116
HP:0002423	Long-tract sign	84340	GFM2	ORPHA:565624
HP:0002423	Long-tract sign	84340	GFM2	OMIM:618397
HP:0002423	Long-tract sign	80224	NUBPL	OMIM:618242
HP:0002423	Long-tract sign	4547	MTTP	ORPHA:14
HP:0002423	Long-tract sign	51102	MECR	OMIM:617282
HP:0002423	Long-tract sign	5611	DNAJC3	OMIM:616192
HP:0002423	Long-tract sign	5611	DNAJC3	ORPHA:445062
HP:0002423	Long-tract sign	463	ZFHX3	OMIM:600223
HP:0002423	Long-tract sign	80821	DDHD1	ORPHA:101008
HP:0002423	Long-tract sign	80821	DDHD1	OMIM:609340
HP:0002423	Long-tract sign	2705	GJB1	OMIM:302800
HP:0002423	Long-tract sign	2705	GJB1	ORPHA:1175
HP:0002423	Long-tract sign	1200	TPP1	OMIM:609270
HP:0002423	Long-tract sign	1200	TPP1	ORPHA:284324
HP:0002423	Long-tract sign	29967	LRP12	OMIM:620452
HP:0002423	Long-tract sign	87178	PNPT1	ORPHA:101111
HP:0002423	Long-tract sign	87178	PNPT1	OMIM:608703
HP:0002423	Long-tract sign	1938	EEF2	ORPHA:101112
HP:0002423	Long-tract sign	9197	SLC33A1	ORPHA:171863
HP:0002423	Long-tract sign	9197	SLC33A1	OMIM:612539
HP:0002423	Long-tract sign	2892	GRIA3	ORPHA:364028
HP:0002423	Long-tract sign	9927	MFN2	OMIM:609260
HP:0002423	Long-tract sign	9927	MFN2	ORPHA:99947
HP:0002423	Long-tract sign	3839	KPNA3	OMIM:620106
HP:0002423	Long-tract sign	3839	KPNA3	ORPHA:171612
HP:0002423	Long-tract sign	538	ATP7A	OMIM:309400
HP:0002423	Long-tract sign	3032	HADHB	ORPHA:746
HP:0002423	Long-tract sign	3030	HADHA	ORPHA:746
HP:0002423	Long-tract sign	22978	NT5C2	ORPHA:320396
HP:0002423	Long-tract sign	22978	NT5C2	OMIM:613162
HP:0002423	Long-tract sign	5375	PMP2	OMIM:618279
HP:0002423	Long-tract sign	6472	SHMT2	OMIM:619121
HP:0002423	Long-tract sign	6253	RTN2	OMIM:604805
HP:0002423	Long-tract sign	6253	RTN2	ORPHA:100993
HP:0002423	Long-tract sign	5173	PDYN	ORPHA:101108
HP:0002423	Long-tract sign	5173	PDYN	OMIM:610245
HP:0002423	Long-tract sign	10939	AFG3L2	ORPHA:101109
HP:0002423	Long-tract sign	10939	AFG3L2	OMIM:610246
HP:0002423	Long-tract sign	79152	FA2H	ORPHA:171629
HP:0002423	Long-tract sign	79152	FA2H	OMIM:612319
HP:0002423	Long-tract sign	25978	CHMP2B	OMIM:600795
HP:0002423	Long-tract sign	25978	CHMP2B	ORPHA:803
HP:0002423	Long-tract sign	23636	NUP62	ORPHA:225154
HP:0002423	Long-tract sign	53371	NUP54	ORPHA:225154
HP:0002423	Long-tract sign	6389	SDHA	OMIM:619259
HP:0002423	Long-tract sign	6389	SDHA	ORPHA:3208
HP:0002423	Long-tract sign	6389	SDHA	OMIM:252011
HP:0002423	Long-tract sign	3739	KCNA4	OMIM:618284
HP:0002423	Long-tract sign	7415	VCP	OMIM:613954
HP:0002423	Long-tract sign	7415	VCP	ORPHA:275872
HP:0002423	Long-tract sign	7415	VCP	ORPHA:329475
HP:0002423	Long-tract sign	7415	VCP	ORPHA:803
HP:0002423	Long-tract sign	124454	EARS2	OMIM:614924
HP:0002423	Long-tract sign	54936	ADPRS	OMIM:618170
HP:0002423	Long-tract sign	84842	HPDL	OMIM:619027
HP:0002423	Long-tract sign	55129	ANO10	OMIM:613728
HP:0002423	Long-tract sign	2643	GCH1	OMIM:128230
HP:0002423	Long-tract sign	2643	GCH1	ORPHA:98808
HP:0002423	Long-tract sign	9131	AIFM1	OMIM:300232
HP:0002423	Long-tract sign	9131	AIFM1	ORPHA:83629
HP:0002423	Long-tract sign	8506	CNTNAP1	OMIM:618186
HP:0002423	Long-tract sign	400916	CHCHD10	OMIM:615911
HP:0002423	Long-tract sign	400916	CHCHD10	ORPHA:275872
HP:0002423	Long-tract sign	400916	CHCHD10	ORPHA:803
HP:0002423	Long-tract sign	2521	FUS	ORPHA:275872
HP:0002423	Long-tract sign	2521	FUS	ORPHA:803
HP:0002423	Long-tract sign	23435	TARDBP	ORPHA:275872
HP:0002423	Long-tract sign	23435	TARDBP	ORPHA:803
HP:0002423	Long-tract sign	23435	TARDBP	OMIM:612069
HP:0002423	Long-tract sign	29110	TBK1	ORPHA:275872
HP:0002423	Long-tract sign	29110	TBK1	ORPHA:803
HP:0002423	Long-tract sign	54209	TREM2	OMIM:618193
HP:0002423	Long-tract sign	54209	TREM2	ORPHA:803
HP:0002423	Long-tract sign	51506	UFC1	OMIM:618076
HP:0002423	Long-tract sign	6311	ATXN2	OMIM:183090
HP:0002423	Long-tract sign	6311	ATXN2	ORPHA:803
HP:0002423	Long-tract sign	80055	PGAP1	OMIM:615802
HP:0002423	Long-tract sign	80055	PGAP1	ORPHA:401820
HP:0002423	Long-tract sign	23431	AP4E1	OMIM:613744
HP:0002423	Long-tract sign	23431	AP4E1	ORPHA:280763
HP:0002423	Long-tract sign	25778	DSTYK	OMIM:270750
HP:0002423	Long-tract sign	116228	COX20	OMIM:619054
HP:0002423	Long-tract sign	64207	IRF2BPL	OMIM:618088
HP:0002423	Long-tract sign	55157	DARS2	ORPHA:137898
HP:0002423	Long-tract sign	55157	DARS2	OMIM:611105
HP:0002423	Long-tract sign	823	CAPN1	OMIM:616907
HP:0002423	Long-tract sign	823	CAPN1	ORPHA:488594
HP:0002423	Long-tract sign	10273	STUB1	OMIM:618093
HP:0002423	Long-tract sign	10273	STUB1	OMIM:615768
HP:0002423	Long-tract sign	22	ABCB7	OMIM:301310
HP:0002423	Long-tract sign	100303755	PET117	OMIM:619063
HP:0002423	Long-tract sign	4697	NDUFA4	OMIM:619065
HP:0002423	Long-tract sign	65055	REEP1	OMIM:610250
HP:0002423	Long-tract sign	26090	ABHD12	OMIM:612674
HP:0002423	Long-tract sign	144165	PRICKLE1	OMIM:612437
HP:0002423	Long-tract sign	5376	PMP22	ORPHA:3115
HP:0002423	Long-tract sign	4359	MPZ	ORPHA:3115
HP:0002423	Long-tract sign	1267	CNP	OMIM:619071
HP:0002423	Long-tract sign	4744	NEFH	OMIM:616924
HP:0002423	Long-tract sign	4744	NEFH	ORPHA:803
HP:0002423	Long-tract sign	90624	LYRM7	OMIM:615838
HP:0002423	Long-tract sign	1282	COL4A1	OMIM:175780
HP:0002423	Long-tract sign	64837	KLC2	OMIM:609541
HP:0002423	Long-tract sign	11128	POLR3A	ORPHA:447896
HP:0002423	Long-tract sign	11128	POLR3A	OMIM:607694
HP:0002423	Long-tract sign	23503	ZFYVE26	OMIM:270700
HP:0002423	Long-tract sign	23503	ZFYVE26	ORPHA:100996
HP:0002423	Long-tract sign	9409	PEX16	OMIM:614877
HP:0002423	Long-tract sign	8242	KDM5C	OMIM:300534
HP:0002423	Long-tract sign	6390	SDHB	ORPHA:3208
HP:0002423	Long-tract sign	6392	SDHD	ORPHA:3208
HP:0002423	Long-tract sign	644096	SDHAF1	ORPHA:3208
HP:0002423	Long-tract sign	3954	LETM1	OMIM:620089
HP:0002423	Long-tract sign	4556	MT-TE	ORPHA:2596
HP:0002423	Long-tract sign	3178	HNRNPA1	ORPHA:803
HP:0002423	Long-tract sign	8148	TAF15	ORPHA:803
HP:0002423	Long-tract sign	5445	PON2	ORPHA:803
HP:0002423	Long-tract sign	5630	PRPH	ORPHA:803
HP:0002423	Long-tract sign	55830	GLT8D1	ORPHA:803
HP:0002423	Long-tract sign	755	CFAP410	ORPHA:803
HP:0002423	Long-tract sign	10891	PPARGC1A	ORPHA:803
HP:0002423	Long-tract sign	10133	OPTN	ORPHA:803
HP:0002423	Long-tract sign	1639	DCTN1	ORPHA:803
HP:0002423	Long-tract sign	9896	FIG4	ORPHA:803
HP:0002423	Long-tract sign	5444	PON1	ORPHA:803
HP:0002423	Long-tract sign	5446	PON3	ORPHA:803
HP:0002423	Long-tract sign	5216	PFN1	ORPHA:803
HP:0002423	Long-tract sign	9782	MATR3	ORPHA:803
HP:0002423	Long-tract sign	283	ANG	ORPHA:803
HP:0002423	Long-tract sign	29978	UBQLN2	ORPHA:803
HP:0002423	Long-tract sign	2733	GLE1	ORPHA:803
HP:0002423	Long-tract sign	4750	NEK1	ORPHA:803
HP:0002423	Long-tract sign	1610	DAO	ORPHA:803
HP:0002423	Long-tract sign	2066	ERBB4	ORPHA:803
HP:0002423	Long-tract sign	23025	UNC13A	ORPHA:803
HP:0002423	Long-tract sign	899	CCNF	ORPHA:803
HP:0002423	Long-tract sign	6314	ATXN7	ORPHA:94147
HP:0002423	Long-tract sign	6314	ATXN7	OMIM:164500
HP:0002423	Long-tract sign	3798	KIF5A	ORPHA:100991
HP:0002423	Long-tract sign	3798	KIF5A	OMIM:604187
HP:0002423	Long-tract sign	80207	OPA3	OMIM:258501
HP:0002423	Long-tract sign	1861	TOR1A	OMIM:128100
HP:0002423	Long-tract sign	4976	OPA1	OMIM:210000
HP:0002423	Long-tract sign	6310	ATXN1	OMIM:164400
HP:0002423	Long-tract sign	3736	KCNA1	OMIM:160120
HP:0002423	Long-tract sign	9420	CYP7B1	ORPHA:100986
HP:0002423	Long-tract sign	9420	CYP7B1	OMIM:270800
HP:0002423	Long-tract sign	2258	FGF13	OMIM:301058
HP:0002423	Long-tract sign	57505	AARS2	OMIM:615889
HP:0002423	Long-tract sign	84679	SLC9A7	OMIM:301024
HP:0002423	Long-tract sign	10342	TFG	ORPHA:431329
HP:0002423	Long-tract sign	10342	TFG	OMIM:615658
HP:0002423	Long-tract sign	4204	MECP2	OMIM:300055
HP:0002423	Long-tract sign	51741	WWOX	OMIM:614322
HP:0002423	Long-tract sign	91137	SLC25A46	OMIM:616505
HP:0002423	Long-tract sign	54463	RETREG1	OMIM:613115
HP:0002423	Long-tract sign	80746	TSEN2	OMIM:612389
HP:0002423	Long-tract sign	80746	TSEN2	ORPHA:2524
HP:0002423	Long-tract sign	1737	DLAT	ORPHA:79244
HP:0002423	Long-tract sign	128989	TANGO2	ORPHA:480864
HP:0002423	Long-tract sign	128989	TANGO2	OMIM:616878
HP:0002423	Long-tract sign	128637	TBC1D20	OMIM:615663
HP:0002423	Long-tract sign	58494	JAM2	OMIM:618824
HP:0002423	Long-tract sign	22948	CCT5	ORPHA:139578
HP:0002423	Long-tract sign	22948	CCT5	OMIM:256840
HP:0002423	Long-tract sign	4929	NR4A2	ORPHA:98808
HP:0002423	Long-tract sign	3615	IMPDH2	ORPHA:98808
HP:0002423	Long-tract sign	10613	ERLIN1	OMIM:615681
HP:0002423	Long-tract sign	283989	TSEN54	ORPHA:2524
HP:0002423	Long-tract sign	79042	TSEN34	ORPHA:2524
HP:0002423	Long-tract sign	51091	SEPSECS	ORPHA:2524
HP:0002423	Long-tract sign	271	AMPD2	OMIM:615686
HP:0002423	Long-tract sign	57570	TRMT5	OMIM:616539
HP:0002423	Long-tract sign	6509	SLC1A4	OMIM:616657
HP:0002423	Long-tract sign	9215	LARGE1	OMIM:608840
HP:0002423	Long-tract sign	51	ACOX1	OMIM:264470
HP:0002423	Long-tract sign	29920	PYCR2	OMIM:616420
HP:0002423	Long-tract sign	22943	DKK1	ORPHA:268882
HP:0002423	Long-tract sign	4724	NDUFS4	OMIM:252010
HP:0002423	Long-tract sign	8086	AAAS	OMIM:231550
HP:0002423	Long-tract sign	51663	ZFR	ORPHA:401840
HP:0002423	Long-tract sign	84706	GPT2	ORPHA:477673
HP:0002423	Long-tract sign	1968	EIF2S3	OMIM:300148
HP:0002423	Long-tract sign	7305	TYROBP	OMIM:221770
HP:0002423	Long-tract sign	4747	NEFL	OMIM:617882
HP:0002423	Long-tract sign	221927	BRAT1	OMIM:614498
HP:0002423	Long-tract sign	54820	NDE1	OMIM:614019
HP:0002423	Long-tract sign	6095	RORA	OMIM:618060
HP:0002423	Long-tract sign	10749	KIF1C	ORPHA:397946
HP:0002423	Long-tract sign	5621	PRNP	ORPHA:282166
HP:0002423	Long-tract sign	5621	PRNP	ORPHA:466
HP:0002423	Long-tract sign	10134	BCAP31	OMIM:300475
HP:0002423	Long-tract sign	10134	BCAP31	ORPHA:369939
HP:0002423	Long-tract sign	55703	POLR3B	OMIM:614381
HP:0002423	Long-tract sign	91574	MTRFR	ORPHA:254930
HP:0002423	Long-tract sign	4099	MAG	OMIM:616680
HP:0002423	Long-tract sign	4099	MAG	ORPHA:459056
HP:0002423	Long-tract sign	6873	TAF2	OMIM:615599
HP:0002423	Long-tract sign	6873	TAF2	ORPHA:397951
HP:0002423	Long-tract sign	22880	MORC2	OMIM:616688
HP:0002423	Long-tract sign	50484	RRM2B	ORPHA:329336
HP:0002423	Long-tract sign	246243	RNASEH1	ORPHA:329336
HP:0002423	Long-tract sign	246243	RNASEH1	OMIM:616479
HP:0002423	Long-tract sign	10059	DNM1L	OMIM:614388
HP:0002423	Long-tract sign	84334	COA8	ORPHA:436271
HP:0002423	Long-tract sign	123263	MTFMT	OMIM:614947
HP:0002423	Long-tract sign	5457	POU4F1	ORPHA:314647
HP:0002423	Long-tract sign	23261	CAMTA1	ORPHA:314647
HP:0002423	Long-tract sign	57679	ALS2	ORPHA:247604
HP:0002423	Long-tract sign	57679	ALS2	ORPHA:293168
HP:0002423	Long-tract sign	11160	ERLIN2	ORPHA:247604
HP:0002423	Long-tract sign	6687	SPG7	ORPHA:99013
HP:0002423	Long-tract sign	4072	EPCAM	ORPHA:144
HP:0002423	Long-tract sign	4292	MLH1	ORPHA:144
HP:0002423	Long-tract sign	5395	PMS2	ORPHA:144
HP:0002423	Long-tract sign	7048	TGFBR2	ORPHA:144
HP:0002423	Long-tract sign	3845	KRAS	ORPHA:144
HP:0002423	Long-tract sign	5290	PIK3CA	ORPHA:144
HP:0002423	Long-tract sign	2956	MSH6	ORPHA:144
HP:0002423	Long-tract sign	5378	PMS1	ORPHA:144
HP:0002423	Long-tract sign	4436	MSH2	ORPHA:144
HP:0002423	Long-tract sign	3074	HEXB	ORPHA:309162
HP:0002423	Long-tract sign	6531	SLC6A3	ORPHA:238455
HP:0002423	Long-tract sign	6531	SLC6A3	OMIM:613135
HP:0002423	Long-tract sign	56997	COQ8A	ORPHA:139485
HP:0002423	Long-tract sign	56997	COQ8A	OMIM:612016
HP:0002423	Long-tract sign	64218	SEMA4A	ORPHA:440437
HP:0002423	Long-tract sign	472	ATM	ORPHA:440437
HP:0002423	Long-tract sign	5426	POLE	ORPHA:440437
HP:0002423	Long-tract sign	675	BRCA2	ORPHA:440437
HP:0002423	Long-tract sign	657	BMPR1A	ORPHA:440437
HP:0002423	Long-tract sign	6224	RPS20	ORPHA:440437
HP:0002423	Long-tract sign	4595	MUTYH	ORPHA:440437
HP:0002423	Long-tract sign	5424	POLD1	ORPHA:440437
HP:0002423	Long-tract sign	11200	CHEK2	ORPHA:440437
HP:0002423	Long-tract sign	57465	TBC1D24	ORPHA:352596
HP:0002423	Long-tract sign	25914	RTTN	OMIM:614833
HP:0002423	Long-tract sign	25914	RTTN	ORPHA:468631
HP:0002423	Long-tract sign	224	ALDH3A2	ORPHA:816
HP:0002423	Long-tract sign	2911	GRM1	OMIM:614831
HP:0002423	Long-tract sign	26580	BSCL2	OMIM:615924
HP:0002423	Long-tract sign	26580	BSCL2	ORPHA:363400
HP:0002423	Long-tract sign	23474	ETHE1	ORPHA:51188
HP:0002423	Long-tract sign	51204	TACO1	OMIM:619052
HP:0002423	Long-tract sign	8575	PRKRA	ORPHA:210571
HP:0002423	Long-tract sign	8575	PRKRA	OMIM:612067
HP:0002423	Long-tract sign	4137	MAPT	ORPHA:240071
HP:0002423	Long-tract sign	4137	MAPT	ORPHA:240103
HP:0002423	Long-tract sign	4137	MAPT	OMIM:260540
HP:0002423	Long-tract sign	7343	UBTF	OMIM:617672
HP:0002423	Long-tract sign	7343	UBTF	ORPHA:500180
HP:0002423	Long-tract sign	3064	HTT	OMIM:617435
HP:0002423	Long-tract sign	6575	SLC20A2	OMIM:213600
HP:0002423	Long-tract sign	5159	PDGFRB	OMIM:213600
HP:0002423	Long-tract sign	5155	PDGFB	OMIM:213600
HP:0002423	Long-tract sign	8398	PLA2G6	ORPHA:35069
HP:0002423	Long-tract sign	8398	PLA2G6	OMIM:256600
HP:0002423	Long-tract sign	6513	SLC2A1	OMIM:601042
HP:0002423	Long-tract sign	6513	SLC2A1	ORPHA:1942
HP:0002423	Long-tract sign	6513	SLC2A1	ORPHA:53583
HP:0002423	Long-tract sign	7276	TTR	OMIM:105210
HP:0002423	Long-tract sign	55187	VPS13D	ORPHA:95434
HP:0002423	Long-tract sign	55187	VPS13D	OMIM:607317
HP:0002423	Long-tract sign	27072	VPS41	ORPHA:95434
HP:0002423	Long-tract sign	7274	TTPA	ORPHA:96
HP:0002423	Long-tract sign	23400	ATP13A2	ORPHA:513436
HP:0002423	Long-tract sign	23400	ATP13A2	ORPHA:306674
HP:0002423	Long-tract sign	23400	ATP13A2	OMIM:617225
HP:0002423	Long-tract sign	26278	SACS	ORPHA:98
HP:0002423	Long-tract sign	84504	NKX6-2	OMIM:617560
HP:0002423	Long-tract sign	84504	NKX6-2	ORPHA:527497
HP:0002423	Long-tract sign	83636	C19orf12	OMIM:614298
HP:0002423	Long-tract sign	833	CARS1	OMIM:618891
HP:0002423	Long-tract sign	833	CARS1	ORPHA:33364
HP:0002423	Long-tract sign	27235	COQ2	ORPHA:98933
HP:0002423	Long-tract sign	27235	COQ2	ORPHA:227510
HP:0002423	Long-tract sign	5192	PEX10	ORPHA:247815
HP:0002423	Long-tract sign	5654	HTRA1	ORPHA:199354
HP:0002423	Long-tract sign	5654	HTRA1	OMIM:600142
HP:0002423	Long-tract sign	3735	KARS1	OMIM:619196
HP:0002423	Long-tract sign	443	ASPA	OMIM:271900
HP:0002423	Long-tract sign	23312	DMXL2	ORPHA:453533
HP:0002423	Long-tract sign	23533	PIK3R5	ORPHA:64753
HP:0002423	Long-tract sign	23064	SETX	ORPHA:64753
HP:0002423	Long-tract sign	23064	SETX	OMIM:606002
HP:0002423	Long-tract sign	23064	SETX	ORPHA:357043
HP:0002423	Long-tract sign	9255	AIMP1	OMIM:260600
HP:0002423	Long-tract sign	773	CACNA1A	ORPHA:2131
HP:0002423	Long-tract sign	6507	SLC1A3	ORPHA:2131
HP:0002423	Long-tract sign	477	ATP1A2	ORPHA:2131
HP:0002423	Long-tract sign	478	ATP1A3	ORPHA:2131
HP:0002423	Long-tract sign	4191	MDH2	OMIM:617339
HP:0002423	Long-tract sign	146057	TTBK2	ORPHA:98767
HP:0002423	Long-tract sign	5354	PLP1	ORPHA:280219
HP:0002423	Long-tract sign	5354	PLP1	OMIM:312080
HP:0002423	Long-tract sign	80704	SLC19A3	OMIM:607483
HP:0002423	Long-tract sign	80025	PANK2	OMIM:234200
HP:0002423	Long-tract sign	80025	PANK2	ORPHA:216873
HP:0002423	Long-tract sign	2517	FUCA1	ORPHA:349
HP:0002423	Long-tract sign	9289	ADGRG1	ORPHA:101070
HP:0002423	Long-tract sign	5728	PTEN	ORPHA:101070
HP:0002423	Long-tract sign	5521	PPP2R2B	ORPHA:98762
HP:0002423	Long-tract sign	3708	ITPR1	OMIM:117360
HP:0002423	Long-tract sign	3708	ITPR1	OMIM:206700
HP:0002423	Long-tract sign	57462	MYORG	OMIM:618317
HP:0002423	Long-tract sign	11261	CHP1	OMIM:618438
HP:0002423	Long-tract sign	3662	IRF4	ORPHA:3452
HP:0002423	Long-tract sign	6908	TBP	ORPHA:98759
HP:0002423	Long-tract sign	6324	SCN1B	OMIM:617350
HP:0002423	Long-tract sign	11284	PNKP	OMIM:616267
HP:0002423	Long-tract sign	404672	GTF2H5	ORPHA:33364
HP:0002423	Long-tract sign	2068	ERCC2	ORPHA:33364
HP:0002423	Long-tract sign	7737	RNF113A	ORPHA:33364
HP:0002423	Long-tract sign	136647	MPLKIP	ORPHA:33364
HP:0002423	Long-tract sign	6897	TARS1	ORPHA:33364
HP:0002423	Long-tract sign	16	AARS1	ORPHA:33364
HP:0002423	Long-tract sign	2071	ERCC3	ORPHA:33364
HP:0002423	Long-tract sign	2961	GTF2E2	ORPHA:33364
HP:0002423	Long-tract sign	200403	VWA3B	OMIM:616948
HP:0002423	Long-tract sign	8831	SYNGAP1	ORPHA:1942
HP:0002423	Long-tract sign	1173	AP2M1	ORPHA:1942
HP:0002423	Long-tract sign	6323	SCN1A	ORPHA:1942
HP:0002423	Long-tract sign	6323	SCN1A	OMIM:607208
HP:0002423	Long-tract sign	340533	NEXMIF	ORPHA:1942
HP:0002423	Long-tract sign	1106	CHD2	ORPHA:1942
HP:0002423	Long-tract sign	6529	SLC6A1	ORPHA:1942
HP:0002423	Long-tract sign	5832	ALDH18A1	ORPHA:447753
HP:0002423	Long-tract sign	3329	HSPD1	ORPHA:100994
HP:0002423	Long-tract sign	6567	SLC16A2	ORPHA:59
HP:0002423	Long-tract sign	3980	LIG3	OMIM:619780
HP:0002423	Long-tract sign	25793	FBXO7	ORPHA:171695
HP:0002423	Long-tract sign	6622	SNCA	ORPHA:171695
HP:0002423	Long-tract sign	120	ADD3	OMIM:617008
HP:0002423	Long-tract sign	6709	SPTAN1	OMIM:620538
HP:0002423	Long-tract sign	10535	RNASEH2A	ORPHA:51
HP:0002423	Long-tract sign	84153	RNASEH2C	ORPHA:51
HP:0002423	Long-tract sign	25939	SAMHD1	ORPHA:51
HP:0002423	Long-tract sign	79621	RNASEH2B	ORPHA:51
HP:0002423	Long-tract sign	103	ADAR	ORPHA:51
HP:0002423	Long-tract sign	11277	TREX1	ORPHA:51
HP:0002423	Long-tract sign	100147744	RNU7-1	ORPHA:51
HP:0002423	Long-tract sign	134353	LSM11	ORPHA:51
HP:0002423	Long-tract sign	64135	IFIH1	ORPHA:51
HP:0002423	Long-tract sign	4001	LMNB1	ORPHA:99027
HP:0002423	Long-tract sign	149233	IL23R	ORPHA:117
HP:0002423	Long-tract sign	6775	STAT4	ORPHA:117
HP:0002423	Long-tract sign	3586	IL10	ORPHA:117
HP:0002423	Long-tract sign	4210	MEFV	ORPHA:117
HP:0002423	Long-tract sign	1230	CCR1	ORPHA:117
HP:0002423	Long-tract sign	355	FAS	ORPHA:117
HP:0002423	Long-tract sign	3592	IL12A	ORPHA:117
HP:0002423	Long-tract sign	101928376	IL12A-AS1	ORPHA:117
HP:0002423	Long-tract sign	3106	HLA-B	ORPHA:117
HP:0002423	Long-tract sign	7099	TLR4	ORPHA:117
HP:0002423	Long-tract sign	3459	IFNGR1	ORPHA:117
HP:0002423	Long-tract sign	720	C4A	ORPHA:117
HP:0002423	Long-tract sign	337867	UBAC2	ORPHA:117
HP:0002423	Long-tract sign	51752	ERAP1	ORPHA:117
HP:0002423	Long-tract sign	8302	KLRC4	ORPHA:117
HP:0002423	Long-tract sign	374291	NDUFS7	OMIM:618224
HP:0002423	Long-tract sign	54832	VPS13C	OMIM:616840
HP:0002423	Long-tract sign	57704	GBA2	ORPHA:352641
HP:0002423	Long-tract sign	57704	GBA2	ORPHA:320391
HP:0002423	Long-tract sign	4508	MT-ATP6	ORPHA:320360
HP:0002423	Long-tract sign	4720	NDUFS2	OMIM:618228
HP:0002423	Long-tract sign	79903	NAA60	OMIM:620786
HP:0002423	Long-tract sign	170302	ARX	OMIM:308350
HP:0002423	Long-tract sign	81570	CLPB	ORPHA:445038
HP:0002423	Long-tract sign	6315	ATXN8OS	OMIM:608768
HP:0002423	Long-tract sign	724066	ATXN8	OMIM:608768
HP:0002423	Long-tract sign	3748	KCNC3	OMIM:605259
HP:0002423	Long-tract sign	6647	SOD1	OMIM:618598
HP:0002423	Long-tract sign	25814	ATXN10	OMIM:603516
HP:0002423	Long-tract sign	79868	ALG13	OMIM:300884
HP:0002423	Long-tract sign	8878	SQSTM1	OMIM:617145
HP:0002423	Long-tract sign	9829	DNAJC6	OMIM:615528
HP:0002423	Long-tract sign	9829	DNAJC6	ORPHA:391411
HP:0002423	Long-tract sign	51218	GLRX5	OMIM:616859
HP:0002423	Long-tract sign	10166	SLC25A15	ORPHA:415
HP:0002423	Long-tract sign	10166	SLC25A15	OMIM:238970
HP:0002423	Long-tract sign	79944	L2HGDH	OMIM:236792
HP:0002423	Long-tract sign	727676	SNORD118	OMIM:614561
HP:0002423	Long-tract sign	727676	SNORD118	ORPHA:542310
HP:0002423	Long-tract sign	4125	MAN2B1	OMIM:248500
HP:0002423	Long-tract sign	2058	EPRS1	OMIM:617951
HP:0002423	Long-tract sign	6663	SOX10	ORPHA:163746
HP:0002423	Long-tract sign	51079	NDUFA13	OMIM:618249
HP:0002423	Long-tract sign	54974	THG1L	OMIM:618800
HP:0002423	Long-tract sign	259232	NALCN	OMIM:615419
HP:0002423	Long-tract sign	80208	SPG11	OMIM:602099
HP:0002423	Long-tract sign	2632	GBE1	ORPHA:206583
HP:0002423	Long-tract sign	9217	VAPB	OMIM:608627
HP:0002423	Long-tract sign	51324	SPG21	ORPHA:101001
HP:0002423	Long-tract sign	54664	TMEM106B	OMIM:617964
HP:0002423	Long-tract sign	84668	HYCC1	OMIM:610532
HP:0002423	Long-tract sign	84668	HYCC1	ORPHA:85163
HP:0002423	Long-tract sign	4287	ATXN3	ORPHA:276238
HP:0002423	Long-tract sign	4287	ATXN3	ORPHA:276244
HP:0002423	Long-tract sign	4287	ATXN3	ORPHA:276241
HP:0002423	Long-tract sign	9757	KMT2B	ORPHA:589618
HP:0002423	Long-tract sign	9150	CTDP1	ORPHA:48431
HP:0002423	Long-tract sign	35	ACADS	OMIM:201470
HP:0002423	Long-tract sign	57468	SLC12A5	OMIM:616645
HP:0002423	Long-tract sign	3425	IDUA	ORPHA:93473
HP:0002423	Long-tract sign	3425	IDUA	ORPHA:93476
HP:0002423	Long-tract sign	5420	PODXL	ORPHA:391411
HP:0002423	Long-tract sign	8867	SYNJ1	ORPHA:391411
HP:0002423	Long-tract sign	29925	GMPPB	ORPHA:370959
HP:0002423	Long-tract sign	79147	FKRP	ORPHA:370959
HP:0002423	Long-tract sign	29954	POMT2	ORPHA:370959
HP:0002423	Long-tract sign	84197	POMK	ORPHA:370959
HP:0002423	Long-tract sign	55624	POMGNT1	ORPHA:370959
HP:0002423	Long-tract sign	10585	POMT1	ORPHA:370959
HP:0002423	Long-tract sign	2760	GM2A	ORPHA:309246
HP:0002423	Long-tract sign	2760	GM2A	OMIM:272750
HP:0002423	Long-tract sign	2670	GFAP	ORPHA:363717
HP:0002423	Long-tract sign	6785	ELOVL4	OMIM:133190
HP:0002423	Long-tract sign	5264	PHYH	ORPHA:773
HP:0002423	Long-tract sign	5191	PEX7	ORPHA:773
HP:0002423	Long-tract sign	1807	DPYS	OMIM:222748
HP:0002423	Long-tract sign	8139	GAN	OMIM:256850
HP:0002423	Long-tract sign	1678	TIMM8A	ORPHA:52368
HP:0002423	Long-tract sign	8913	CACNA1G	OMIM:616795
HP:0002423	Long-tract sign	80169	CTC1	OMIM:612199
HP:0002423	Long-tract sign	9373	PLAA	OMIM:617527
HP:0002423	Long-tract sign	4668	NAGA	ORPHA:79279
HP:0002423	Long-tract sign	587	BCAT2	OMIM:618850
HP:0007333	Hypoplasia of the frontal lobes	9896	FIG4	OMIM:216340
HP:0007333	Hypoplasia of the frontal lobes	9896	FIG4	ORPHA:3472
HP:0007333	Hypoplasia of the frontal lobes	1717	DHCR7	OMIM:270400
HP:0007333	Hypoplasia of the frontal lobes	55777	MBD5	OMIM:156200
HP:0007333	Hypoplasia of the frontal lobes	55697	VAC14	ORPHA:3472
HP:0007333	Hypoplasia of the frontal lobes	2232	FDXR	ORPHA:543470
HP:0007333	Hypoplasia of the frontal lobes	23229	ARHGEF9	ORPHA:163985
HP:0007333	Hypoplasia of the frontal lobes	23229	ARHGEF9	OMIM:300607
HP:0007333	Hypoplasia of the frontal lobes	100151683	RNU4ATAC	OMIM:210710
HP:0007333	Hypoplasia of the frontal lobes	2290	FOXG1	OMIM:613454
HP:0007333	Hypoplasia of the frontal lobes	673	BRAF	OMIM:115150
HP:0007333	Hypoplasia of the frontal lobes	25914	RTTN	ORPHA:468631
HP:0007333	Hypoplasia of the frontal lobes	8813	DPM1	ORPHA:79322
HP:0007333	Hypoplasia of the frontal lobes	55343	SLC35C1	ORPHA:99843
HP:0007333	Hypoplasia of the frontal lobes	9276	COPB2	ORPHA:2512
HP:0007333	Hypoplasia of the frontal lobes	11113	CIT	ORPHA:2512
HP:0007333	Hypoplasia of the frontal lobes	9928	KIF14	ORPHA:2512
HP:0007333	Hypoplasia of the frontal lobes	22995	CEP152	ORPHA:2512
HP:0007333	Hypoplasia of the frontal lobes	284403	WDR62	ORPHA:2512
HP:0007333	Hypoplasia of the frontal lobes	55262	TRAPPC14	ORPHA:2512
HP:0007333	Hypoplasia of the frontal lobes	163786	SASS6	ORPHA:2512
HP:0007333	Hypoplasia of the frontal lobes	29920	PYCR2	ORPHA:2512
HP:0007333	Hypoplasia of the frontal lobes	84879	MFSD2A	ORPHA:2512
HP:0007333	Hypoplasia of the frontal lobes	4176	MCM7	ORPHA:2512
HP:0007333	Hypoplasia of the frontal lobes	80254	CEP63	ORPHA:2512
HP:0007333	Hypoplasia of the frontal lobes	29081	METTL5	ORPHA:2512
HP:0007333	Hypoplasia of the frontal lobes	79023	NUP37	ORPHA:2512
HP:0007333	Hypoplasia of the frontal lobes	23310	NCAPD3	ORPHA:2512
HP:0007333	Hypoplasia of the frontal lobes	6301	SARS1	ORPHA:2512
HP:0007333	Hypoplasia of the frontal lobes	55755	CDK5RAP2	ORPHA:2512
HP:0007333	Hypoplasia of the frontal lobes	79648	MCPH1	ORPHA:2512
HP:0007333	Hypoplasia of the frontal lobes	6491	STIL	ORPHA:2512
HP:0007333	Hypoplasia of the frontal lobes	23141	ANKLE2	ORPHA:2512
HP:0007333	Hypoplasia of the frontal lobes	259266	ASPM	ORPHA:2512
HP:0007333	Hypoplasia of the frontal lobes	7109	TRAPPC10	ORPHA:2512
HP:0007333	Hypoplasia of the frontal lobes	7453	WARS1	ORPHA:2512
HP:0007333	Hypoplasia of the frontal lobes	1911	PHC1	ORPHA:2512
HP:0007333	Hypoplasia of the frontal lobes	1062	CENPE	ORPHA:2512
HP:0007333	Hypoplasia of the frontal lobes	6884	TAF13	ORPHA:2512
HP:0007333	Hypoplasia of the frontal lobes	9662	CEP135	ORPHA:2512
HP:0007333	Hypoplasia of the frontal lobes	57082	KNL1	ORPHA:2512
HP:0007333	Hypoplasia of the frontal lobes	1021	CDK6	ORPHA:2512
HP:0002425	Anarthria	9829	DNAJC6	ORPHA:391411
HP:0002425	Anarthria	5420	PODXL	ORPHA:391411
HP:0002425	Anarthria	8867	SYNJ1	ORPHA:391411
HP:0002425	Anarthria	2512	FTL	OMIM:606159
HP:0002425	Anarthria	2521	FUS	ORPHA:300605
HP:0002425	Anarthria	80208	SPG11	ORPHA:300605
HP:0002425	Anarthria	10280	SIGMAR1	ORPHA:300605
HP:0002425	Anarthria	10558	SPTLC1	ORPHA:300605
HP:0002425	Anarthria	57679	ALS2	ORPHA:300605
HP:0002425	Anarthria	57679	ALS2	OMIM:205100
HP:0002425	Anarthria	57679	ALS2	ORPHA:293168
HP:0002425	Anarthria	57679	ALS2	OMIM:607225
HP:0002425	Anarthria	9757	KMT2B	ORPHA:589618
HP:0002425	Anarthria	79152	FA2H	ORPHA:329308
HP:0002425	Anarthria	23400	ATP13A2	ORPHA:306674
HP:0002425	Anarthria	23400	ATP13A2	OMIM:606693
HP:0002425	Anarthria	6905	TBCE	ORPHA:496756
HP:0002425	Anarthria	7317	UBA1	ORPHA:1145
HP:0002425	Anarthria	79903	NAA60	OMIM:620786
HP:0002425	Anarthria	5832	ALDH18A1	ORPHA:447753
HP:0002075	Dysdiadochokinesis	2643	GCH1	OMIM:128230
HP:0002075	Dysdiadochokinesis	8622	PDE8B	ORPHA:228169
HP:0002075	Dysdiadochokinesis	8622	PDE8B	OMIM:609161
HP:0002075	Dysdiadochokinesis	55703	POLR3B	OMIM:614381
HP:0002075	Dysdiadochokinesis	2911	GRM1	OMIM:617691
HP:0002075	Dysdiadochokinesis	2911	GRM1	OMIM:614831
HP:0002075	Dysdiadochokinesis	2911	GRM1	ORPHA:324262
HP:0002075	Dysdiadochokinesis	55532	SLC30A10	ORPHA:309854
HP:0002075	Dysdiadochokinesis	124997	WDR81	OMIM:610185
HP:0002075	Dysdiadochokinesis	2895	GRID2	OMIM:616204
HP:0002075	Dysdiadochokinesis	54902	TTC19	OMIM:615157
HP:0002075	Dysdiadochokinesis	4361	MRE11	ORPHA:251347
HP:0002075	Dysdiadochokinesis	4361	MRE11	OMIM:604391
HP:0002075	Dysdiadochokinesis	10382	TUBB4A	ORPHA:98805
HP:0002075	Dysdiadochokinesis	6571	SLC18A2	ORPHA:352649
HP:0002075	Dysdiadochokinesis	6571	SLC18A2	OMIM:618049
HP:0002075	Dysdiadochokinesis	3708	ITPR1	ORPHA:208513
HP:0002075	Dysdiadochokinesis	3708	ITPR1	OMIM:117360
HP:0002075	Dysdiadochokinesis	6712	SPTBN2	ORPHA:352403
HP:0002075	Dysdiadochokinesis	6712	SPTBN2	OMIM:600224
HP:0002075	Dysdiadochokinesis	6712	SPTBN2	OMIM:615386
HP:0002075	Dysdiadochokinesis	5521	PPP2R2B	OMIM:604326
HP:0002075	Dysdiadochokinesis	1822	ATN1	ORPHA:101
HP:0002075	Dysdiadochokinesis	10908	PNPLA6	OMIM:215470
HP:0002075	Dysdiadochokinesis	5428	POLG	ORPHA:254881
HP:0002075	Dysdiadochokinesis	25814	ATXN10	ORPHA:98761
HP:0002075	Dysdiadochokinesis	25814	ATXN10	OMIM:603516
HP:0002075	Dysdiadochokinesis	6548	SLC9A1	OMIM:616291
HP:0002075	Dysdiadochokinesis	440193	CCDC88C	OMIM:616053
HP:0002075	Dysdiadochokinesis	440193	CCDC88C	ORPHA:423275
HP:0002075	Dysdiadochokinesis	23114	NFASC	OMIM:618356
HP:0002075	Dysdiadochokinesis	6311	ATXN2	OMIM:183090
HP:0002075	Dysdiadochokinesis	8878	SQSTM1	OMIM:617145
HP:0002075	Dysdiadochokinesis	59336	PRDM13	OMIM:619761
HP:0002075	Dysdiadochokinesis	79152	FA2H	ORPHA:171629
HP:0002075	Dysdiadochokinesis	79152	FA2H	OMIM:612319
HP:0002075	Dysdiadochokinesis	4076	CAPRIN1	OMIM:620636
HP:0002075	Dysdiadochokinesis	22	ABCB7	ORPHA:2802
HP:0002075	Dysdiadochokinesis	22	ABCB7	OMIM:301310
HP:0002075	Dysdiadochokinesis	219285	SAMD9L	OMIM:619806
HP:0002075	Dysdiadochokinesis	472	ATM	OMIM:208900
HP:0002075	Dysdiadochokinesis	7274	TTPA	OMIM:277460
HP:0002075	Dysdiadochokinesis	7274	TTPA	ORPHA:96
HP:0002075	Dysdiadochokinesis	6785	ELOVL4	OMIM:133190
HP:0002075	Dysdiadochokinesis	6785	ELOVL4	ORPHA:1955
HP:0002075	Dysdiadochokinesis	5456	POU3F4	ORPHA:1435
HP:0002075	Dysdiadochokinesis	6310	ATXN1	ORPHA:98755
HP:0002075	Dysdiadochokinesis	6310	ATXN1	OMIM:164400
HP:0002075	Dysdiadochokinesis	10166	SLC25A15	OMIM:238970
HP:0002075	Dysdiadochokinesis	51324	SPG21	OMIM:248900
HP:0002075	Dysdiadochokinesis	5981	RFC1	ORPHA:504476
HP:0002075	Dysdiadochokinesis	1600	DAB1	ORPHA:363710
HP:0002075	Dysdiadochokinesis	55154	MSTO1	OMIM:617675
HP:0002075	Dysdiadochokinesis	55154	MSTO1	ORPHA:502423
HP:0002075	Dysdiadochokinesis	7518	XRCC4	OMIM:616541
HP:0002075	Dysdiadochokinesis	3766	KCNJ10	OMIM:612780
HP:0002075	Dysdiadochokinesis	1203	CLN5	OMIM:256731
HP:0002075	Dysdiadochokinesis	7515	XRCC1	OMIM:617633
HP:0002075	Dysdiadochokinesis	2678	GGT1	OMIM:231950
HP:0002075	Dysdiadochokinesis	10939	AFG3L2	OMIM:614487
HP:0002075	Dysdiadochokinesis	10939	AFG3L2	ORPHA:313772
HP:0002075	Dysdiadochokinesis	7436	VLDLR	OMIM:224050
HP:0002075	Dysdiadochokinesis	6575	SLC20A2	OMIM:213600
HP:0002075	Dysdiadochokinesis	5159	PDGFRB	OMIM:213600
HP:0002075	Dysdiadochokinesis	5155	PDGFB	OMIM:213600
HP:0002075	Dysdiadochokinesis	10157	AASS	OMIM:238700
HP:0002075	Dysdiadochokinesis	6314	ATXN7	ORPHA:94147
HP:0002075	Dysdiadochokinesis	857	CAV1	OMIM:606721
HP:0002075	Dysdiadochokinesis	6687	SPG7	OMIM:607259
HP:0002075	Dysdiadochokinesis	2332	FMR1	OMIM:300623
HP:0002075	Dysdiadochokinesis	833	CARS1	OMIM:618891
HP:0002075	Dysdiadochokinesis	8884	SLC5A6	OMIM:619903
HP:0002075	Dysdiadochokinesis	2705	GJB1	ORPHA:1175
HP:0002075	Dysdiadochokinesis	8398	PLA2G6	OMIM:610217
HP:0002075	Dysdiadochokinesis	2395	FXN	ORPHA:95
HP:0002075	Dysdiadochokinesis	9256	TSPOAP1	OMIM:620453
HP:0002075	Dysdiadochokinesis	4001	LMNB1	ORPHA:99027
HP:0002427	Expressive aphasia	79152	FA2H	ORPHA:329308
HP:0002427	Expressive aphasia	2705	GJB1	OMIM:302800
HP:0002427	Expressive aphasia	8131	NPRL3	ORPHA:98820
HP:0002427	Expressive aphasia	10641	NPRL2	ORPHA:98820
HP:0002427	Expressive aphasia	9681	DEPDC5	ORPHA:98820
HP:0002427	Expressive aphasia	25978	CHMP2B	ORPHA:100070
HP:0002427	Expressive aphasia	5663	PSEN1	ORPHA:100070
HP:0002427	Expressive aphasia	2896	GRN	ORPHA:100070
HP:0002427	Expressive aphasia	54664	TMEM106B	ORPHA:100070
HP:0002427	Expressive aphasia	4137	MAPT	ORPHA:100070
HP:0002427	Expressive aphasia	54209	TREM2	ORPHA:100070
HP:0002427	Expressive aphasia	7415	VCP	ORPHA:100070
HP:0002524	Cataplexy	3060	HCRT	OMIM:161400
HP:0002524	Cataplexy	3060	HCRT	ORPHA:2073
HP:0002524	Cataplexy	6904	TBCD	ORPHA:496641
HP:0002524	Cataplexy	6904	TBCD	OMIM:617193
HP:0002524	Cataplexy	10577	NPC2	OMIM:607625
HP:0002524	Cataplexy	4340	MOG	OMIM:614250
HP:0002524	Cataplexy	4340	MOG	ORPHA:2073
HP:0002524	Cataplexy	1786	DNMT1	OMIM:604121
HP:0002524	Cataplexy	1512	CTSH	ORPHA:2073
HP:0002524	Cataplexy	5032	P2RY11	ORPHA:2073
HP:0002524	Cataplexy	3119	HLA-DQB1	ORPHA:2073
HP:0002524	Cataplexy	22891	ZNF365	ORPHA:2073
HP:0002524	Cataplexy	7292	TNFSF4	ORPHA:2073
HP:0002524	Cataplexy	3123	HLA-DRB1	ORPHA:2073
HP:0002524	Cataplexy	4864	NPC1	OMIM:257220
HP:0002353	EEG abnormality	5138	PDE2A	OMIM:619150
HP:0002353	EEG abnormality	875	CBS	ORPHA:394
HP:0002353	EEG abnormality	2218	FKTN	ORPHA:272
HP:0002353	EEG abnormality	2218	FKTN	ORPHA:588
HP:0002353	EEG abnormality	9853	RUSC2	OMIM:617773
HP:0002353	EEG abnormality	23446	SLC44A1	OMIM:618868
HP:0002353	EEG abnormality	3265	HRAS	ORPHA:2612
HP:0002353	EEG abnormality	3845	KRAS	ORPHA:2612
HP:0002353	EEG abnormality	3845	KRAS	ORPHA:1340
HP:0002353	EEG abnormality	4893	NRAS	ORPHA:2612
HP:0002353	EEG abnormality	23334	SZT2	OMIM:615476
HP:0002353	EEG abnormality	60684	TRAPPC11	OMIM:615356
HP:0002353	EEG abnormality	2904	GRIN2B	OMIM:613970
HP:0002353	EEG abnormality	55624	POMGNT1	OMIM:253280
HP:0002353	EEG abnormality	55624	POMGNT1	ORPHA:588
HP:0002353	EEG abnormality	10667	FARS2	OMIM:614946
HP:0002353	EEG abnormality	4047	LSS	ORPHA:2850
HP:0002353	EEG abnormality	197	AHSG	ORPHA:2850
HP:0002353	EEG abnormality	3694	ITGB6	ORPHA:2850
HP:0002353	EEG abnormality	51	ACOX1	ORPHA:2971
HP:0002353	EEG abnormality	23126	POGZ	ORPHA:468678
HP:0002353	EEG abnormality	54209	TREM2	OMIM:618193
HP:0002353	EEG abnormality	387119	CEP85L	OMIM:618873
HP:0002353	EEG abnormality	51741	WWOX	OMIM:616211
HP:0002353	EEG abnormality	51741	WWOX	OMIM:614322
HP:0002353	EEG abnormality	1644	DDC	ORPHA:35708
HP:0002353	EEG abnormality	2782	GNB1	ORPHA:488613
HP:0002353	EEG abnormality	27245	AHDC1	ORPHA:412069
HP:0002353	EEG abnormality	166378	AFG2A	OMIM:616577
HP:0002353	EEG abnormality	166378	AFG2A	ORPHA:457351
HP:0002353	EEG abnormality	7532	YWHAG	OMIM:617665
HP:0002353	EEG abnormality	100996717	NOTCH2NLC	ORPHA:2289
HP:0002353	EEG abnormality	25914	RTTN	OMIM:614833
HP:0002353	EEG abnormality	2314	FLII	ORPHA:819
HP:0002353	EEG abnormality	23096	IQSEC2	ORPHA:819
HP:0002353	EEG abnormality	10743	RAI1	ORPHA:819
HP:0002353	EEG abnormality	10743	RAI1	ORPHA:1713
HP:0002353	EEG abnormality	10743	RAI1	OMIM:182290
HP:0002353	EEG abnormality	10522	DEAF1	ORPHA:819
HP:0002353	EEG abnormality	10522	DEAF1	OMIM:617171
HP:0002353	EEG abnormality	5818	NECTIN1	ORPHA:3253
HP:0002353	EEG abnormality	4758	NEU1	ORPHA:812
HP:0002353	EEG abnormality	55768	NGLY1	ORPHA:404454
HP:0002353	EEG abnormality	284403	WDR62	OMIM:604317
HP:0002353	EEG abnormality	1185	CLCN6	OMIM:619173
HP:0002353	EEG abnormality	6023	RMRP	ORPHA:175
HP:0002353	EEG abnormality	284058	KANSL1	ORPHA:363958
HP:0002353	EEG abnormality	284058	KANSL1	ORPHA:363965
HP:0002353	EEG abnormality	5105	PCK1	OMIM:261680
HP:0002353	EEG abnormality	6844	VAMP2	OMIM:618760
HP:0002353	EEG abnormality	815	CAMK2A	OMIM:617798
HP:0002353	EEG abnormality	9326	ZNHIT3	ORPHA:2836
HP:0002353	EEG abnormality	2055	CLN8	OMIM:610003
HP:0002353	EEG abnormality	2055	CLN8	OMIM:600143
HP:0002353	EEG abnormality	10939	AFG3L2	ORPHA:313772
HP:0002353	EEG abnormality	9839	ZEB2	ORPHA:261552
HP:0002353	EEG abnormality	9839	ZEB2	ORPHA:261537
HP:0002353	EEG abnormality	51651	PTRH2	ORPHA:456312
HP:0002353	EEG abnormality	1759	DNM1	ORPHA:2382
HP:0002353	EEG abnormality	2562	GABRB3	ORPHA:2382
HP:0002353	EEG abnormality	5602	MAPK10	ORPHA:2382
HP:0002353	EEG abnormality	773	CACNA1A	ORPHA:2382
HP:0002353	EEG abnormality	773	CACNA1A	ORPHA:2131
HP:0002353	EEG abnormality	773	CACNA1A	OMIM:617106
HP:0002353	EEG abnormality	773	CACNA1A	ORPHA:569
HP:0002353	EEG abnormality	6323	SCN1A	ORPHA:2382
HP:0002353	EEG abnormality	6323	SCN1A	ORPHA:569
HP:0002353	EEG abnormality	23316	CUX2	ORPHA:2382
HP:0002353	EEG abnormality	23316	CUX2	OMIM:618141
HP:0002353	EEG abnormality	1106	CHD2	ORPHA:2382
HP:0002353	EEG abnormality	23461	ABCA5	ORPHA:2026
HP:0002353	EEG abnormality	2783	GNB2	OMIM:619503
HP:0002353	EEG abnormality	26057	ANKRD17	OMIM:619504
HP:0002353	EEG abnormality	7468	NSD2	OMIM:194190
HP:0002353	EEG abnormality	10815	CPLX1	OMIM:194190
HP:0002353	EEG abnormality	1487	CTBP1	OMIM:194190
HP:0002353	EEG abnormality	53834	FGFRL1	OMIM:194190
HP:0002353	EEG abnormality	3954	LETM1	OMIM:194190
HP:0002353	EEG abnormality	383	ARG1	ORPHA:90
HP:0002353	EEG abnormality	7915	ALDH5A1	OMIM:271980
HP:0002353	EEG abnormality	4204	MECP2	OMIM:300673
HP:0002353	EEG abnormality	4204	MECP2	OMIM:312750
HP:0002353	EEG abnormality	4204	MECP2	ORPHA:3095
HP:0002353	EEG abnormality	4204	MECP2	ORPHA:778
HP:0002353	EEG abnormality	4204	MECP2	OMIM:300496
HP:0002353	EEG abnormality	9255	AIMP1	OMIM:260600
HP:0002353	EEG abnormality	79753	SNIP1	OMIM:614501
HP:0002353	EEG abnormality	6507	SLC1A3	ORPHA:2131
HP:0002353	EEG abnormality	477	ATP1A2	ORPHA:2131
HP:0002353	EEG abnormality	477	ATP1A2	ORPHA:569
HP:0002353	EEG abnormality	478	ATP1A3	ORPHA:2131
HP:0002353	EEG abnormality	5590	PRKCZ	ORPHA:1606
HP:0002353	EEG abnormality	2563	GABRD	ORPHA:1606
HP:0002353	EEG abnormality	23013	SPEN	ORPHA:1606
HP:0002353	EEG abnormality	8510	MMP23B	ORPHA:1606
HP:0002353	EEG abnormality	7798	LUZP1	ORPHA:1606
HP:0002353	EEG abnormality	6497	SKI	ORPHA:1606
HP:0002353	EEG abnormality	10630	PDPN	ORPHA:1606
HP:0002353	EEG abnormality	3339	HSPG2	ORPHA:1606
HP:0002353	EEG abnormality	10277	UBE4B	ORPHA:1606
HP:0002353	EEG abnormality	8514	KCNAB2	ORPHA:1606
HP:0002353	EEG abnormality	473	RERE	ORPHA:1606
HP:0002353	EEG abnormality	63976	PRDM16	ORPHA:1606
HP:0002353	EEG abnormality	54897	CASZ1	ORPHA:1606
HP:0002353	EEG abnormality	7337	UBE3A	OMIM:105830
HP:0002353	EEG abnormality	7337	UBE3A	ORPHA:98794
HP:0002353	EEG abnormality	7337	UBE3A	ORPHA:98795
HP:0002353	EEG abnormality	7337	UBE3A	ORPHA:411511
HP:0002353	EEG abnormality	7337	UBE3A	ORPHA:411515
HP:0002353	EEG abnormality	6638	SNRPN	OMIM:105830
HP:0002353	EEG abnormality	6638	SNRPN	OMIM:209850
HP:0002353	EEG abnormality	6638	SNRPN	ORPHA:411515
HP:0002353	EEG abnormality	148789	B3GALNT2	ORPHA:588
HP:0002353	EEG abnormality	29925	GMPPB	ORPHA:588
HP:0002353	EEG abnormality	79147	FKRP	ORPHA:588
HP:0002353	EEG abnormality	9215	LARGE1	ORPHA:588
HP:0002353	EEG abnormality	29954	POMT2	ORPHA:588
HP:0002353	EEG abnormality	729920	CRPPA	ORPHA:588
HP:0002353	EEG abnormality	10585	POMT1	ORPHA:588
HP:0002353	EEG abnormality	8905	AP1S2	ORPHA:85329
HP:0002353	EEG abnormality	4094	MAF	ORPHA:1272
HP:0002353	EEG abnormality	8733	GPAA1	ORPHA:529665
HP:0002353	EEG abnormality	8733	GPAA1	OMIM:617810
HP:0002353	EEG abnormality	5621	PRNP	ORPHA:157941
HP:0002353	EEG abnormality	27086	FOXP1	ORPHA:391372
HP:0002353	EEG abnormality	2232	FDXR	ORPHA:543470
HP:0002353	EEG abnormality	56947	MFF	ORPHA:485421
HP:0002353	EEG abnormality	6506	SLC1A2	OMIM:617105
HP:0002353	EEG abnormality	200424	TET3	OMIM:618798
HP:0002353	EEG abnormality	29110	TBK1	OMIM:617900
HP:0002353	EEG abnormality	29110	TBK1	ORPHA:1930
HP:0002353	EEG abnormality	256471	MFSD8	OMIM:610951
HP:0002353	EEG abnormality	57192	MCOLN1	ORPHA:578
HP:0002353	EEG abnormality	23065	EMC1	ORPHA:480898
HP:0002353	EEG abnormality	8813	DPM1	OMIM:608799
HP:0002353	EEG abnormality	55670	PEX26	ORPHA:44
HP:0002353	EEG abnormality	55670	PEX26	ORPHA:912
HP:0002353	EEG abnormality	5824	PEX19	ORPHA:44
HP:0002353	EEG abnormality	5824	PEX19	ORPHA:912
HP:0002353	EEG abnormality	5828	PEX2	ORPHA:44
HP:0002353	EEG abnormality	5828	PEX2	ORPHA:912
HP:0002353	EEG abnormality	8504	PEX3	ORPHA:44
HP:0002353	EEG abnormality	8504	PEX3	ORPHA:912
HP:0002353	EEG abnormality	9409	PEX16	ORPHA:44
HP:0002353	EEG abnormality	9409	PEX16	ORPHA:912
HP:0002353	EEG abnormality	5190	PEX6	ORPHA:44
HP:0002353	EEG abnormality	5190	PEX6	ORPHA:912
HP:0002353	EEG abnormality	8799	PEX11B	ORPHA:44
HP:0002353	EEG abnormality	8799	PEX11B	ORPHA:912
HP:0002353	EEG abnormality	8799	PEX11B	OMIM:614920
HP:0002353	EEG abnormality	5830	PEX5	ORPHA:44
HP:0002353	EEG abnormality	5830	PEX5	ORPHA:912
HP:0002353	EEG abnormality	5189	PEX1	ORPHA:44
HP:0002353	EEG abnormality	5189	PEX1	ORPHA:912
HP:0002353	EEG abnormality	5193	PEX12	ORPHA:44
HP:0002353	EEG abnormality	5193	PEX12	ORPHA:912
HP:0002353	EEG abnormality	5194	PEX13	ORPHA:44
HP:0002353	EEG abnormality	5194	PEX13	ORPHA:912
HP:0002353	EEG abnormality	5195	PEX14	ORPHA:44
HP:0002353	EEG abnormality	5195	PEX14	ORPHA:912
HP:0002353	EEG abnormality	5192	PEX10	ORPHA:44
HP:0002353	EEG abnormality	5192	PEX10	ORPHA:912
HP:0002353	EEG abnormality	23007	PLCH1	OMIM:619895
HP:0002353	EEG abnormality	26047	CNTNAP2	OMIM:610042
HP:0002353	EEG abnormality	340024	SLC6A19	ORPHA:2116
HP:0002353	EEG abnormality	57393	CLTRN	ORPHA:2116
HP:0002353	EEG abnormality	84168	ANTXR1	OMIM:230740
HP:0002353	EEG abnormality	284111	SLC13A5	ORPHA:1946
HP:0002353	EEG abnormality	79641	ROGDI	ORPHA:1946
HP:0002353	EEG abnormality	54413	NLGN3	OMIM:300425
HP:0002353	EEG abnormality	57505	AARS2	OMIM:614096
HP:0002353	EEG abnormality	3658	IREB2	OMIM:618451
HP:0002353	EEG abnormality	2581	GALC	OMIM:245200
HP:0002353	EEG abnormality	2581	GALC	ORPHA:206448
HP:0002353	EEG abnormality	9990	SLC12A6	ORPHA:1496
HP:0002353	EEG abnormality	58497	PRUNE1	ORPHA:544469
HP:0002353	EEG abnormality	57724	EPG5	ORPHA:1493
HP:0002353	EEG abnormality	6857	SYT1	OMIM:618218
HP:0002353	EEG abnormality	6857	SYT1	ORPHA:522077
HP:0002353	EEG abnormality	92609	TIMM50	ORPHA:505216
HP:0002353	EEG abnormality	6792	CDKL5	ORPHA:1934
HP:0002353	EEG abnormality	6792	CDKL5	ORPHA:3095
HP:0002353	EEG abnormality	3736	KCNA1	ORPHA:1934
HP:0002353	EEG abnormality	9091	PIGQ	ORPHA:1934
HP:0002353	EEG abnormality	140679	SLC32A1	ORPHA:1934
HP:0002353	EEG abnormality	2775	GNAO1	ORPHA:1934
HP:0002353	EEG abnormality	81603	TRIM8	ORPHA:1934
HP:0002353	EEG abnormality	2902	GRIN1	ORPHA:1934
HP:0002353	EEG abnormality	2902	GRIN1	OMIM:617820
HP:0002353	EEG abnormality	2902	GRIN1	OMIM:614254
HP:0002353	EEG abnormality	79751	SLC25A22	ORPHA:1934
HP:0002353	EEG abnormality	150094	SIK1	ORPHA:1934
HP:0002353	EEG abnormality	8573	CASK	ORPHA:1934
HP:0002353	EEG abnormality	23312	DMXL2	ORPHA:1934
HP:0002353	EEG abnormality	2917	GRM7	ORPHA:1934
HP:0002353	EEG abnormality	170302	ARX	ORPHA:1934
HP:0002353	EEG abnormality	170302	ARX	ORPHA:94083
HP:0002353	EEG abnormality	170302	ARX	OMIM:309510
HP:0002353	EEG abnormality	11284	PNKP	ORPHA:1934
HP:0002353	EEG abnormality	6326	SCN2A	ORPHA:1934
HP:0002353	EEG abnormality	51227	PIGP	ORPHA:1934
HP:0002353	EEG abnormality	6324	SCN1B	ORPHA:1934
HP:0002353	EEG abnormality	4761	NEUROD2	ORPHA:1934
HP:0002353	EEG abnormality	5813	PURA	ORPHA:314655
HP:0002353	EEG abnormality	2068	ERCC2	ORPHA:910
HP:0002353	EEG abnormality	7507	XPA	ORPHA:910
HP:0002353	EEG abnormality	2071	ERCC3	ORPHA:910
HP:0002353	EEG abnormality	7508	XPC	ORPHA:910
HP:0002353	EEG abnormality	1643	DDB2	ORPHA:910
HP:0002353	EEG abnormality	2072	ERCC4	ORPHA:910
HP:0002353	EEG abnormality	2073	ERCC5	ORPHA:910
HP:0002353	EEG abnormality	7187	TRAF3	ORPHA:1930
HP:0002353	EEG abnormality	81622	UNC93B1	ORPHA:1930
HP:0002353	EEG abnormality	148022	TICAM1	ORPHA:1930
HP:0002353	EEG abnormality	7098	TLR3	ORPHA:1930
HP:0002353	EEG abnormality	7098	TLR3	OMIM:613002
HP:0002353	EEG abnormality	6513	SLC2A1	ORPHA:71277
HP:0002353	EEG abnormality	6513	SLC2A1	OMIM:612126
HP:0002353	EEG abnormality	6513	SLC2A1	OMIM:606777
HP:0002353	EEG abnormality	435	ASL	ORPHA:23
HP:0002353	EEG abnormality	3155	HMGCL	ORPHA:20
HP:0002353	EEG abnormality	3155	HMGCL	OMIM:246450
HP:0002353	EEG abnormality	4558	MT-TF	ORPHA:550
HP:0002353	EEG abnormality	4572	MT-TQ	ORPHA:550
HP:0002353	EEG abnormality	4512	MT-CO1	ORPHA:550
HP:0002353	EEG abnormality	4513	MT-CO2	ORPHA:550
HP:0002353	EEG abnormality	4514	MT-CO3	ORPHA:550
HP:0002353	EEG abnormality	4578	MT-TW	ORPHA:550
HP:0002353	EEG abnormality	4540	MT-ND5	ORPHA:550
HP:0002353	EEG abnormality	4541	MT-ND6	ORPHA:550
HP:0002353	EEG abnormality	4535	MT-ND1	ORPHA:550
HP:0002353	EEG abnormality	4538	MT-ND4	ORPHA:550
HP:0002353	EEG abnormality	4567	MT-TL1	ORPHA:550
HP:0002353	EEG abnormality	4574	MT-TS1	ORPHA:550
HP:0002353	EEG abnormality	4575	MT-TS2	ORPHA:550
HP:0002353	EEG abnormality	4564	MT-TH	ORPHA:550
HP:0002353	EEG abnormality	8243	SMC1A	OMIM:301044
HP:0002353	EEG abnormality	8243	SMC1A	ORPHA:3095
HP:0002353	EEG abnormality	10785	WDR4	OMIM:618346
HP:0002353	EEG abnormality	10785	WDR4	ORPHA:2065
HP:0002353	EEG abnormality	2290	FOXG1	OMIM:613454
HP:0002353	EEG abnormality	29123	ANKRD11	ORPHA:2332
HP:0002353	EEG abnormality	83548	COG3	OMIM:620546
HP:0002353	EEG abnormality	11267	SNF8	OMIM:620784
HP:0002353	EEG abnormality	11267	SNF8	OMIM:620783
HP:0002353	EEG abnormality	22854	NTNG1	ORPHA:3095
HP:0002353	EEG abnormality	9568	GABBR2	ORPHA:3095
HP:0002353	EEG abnormality	1387	CREBBP	ORPHA:353281
HP:0002353	EEG abnormality	1387	CREBBP	OMIM:180849
HP:0002353	EEG abnormality	1387	CREBBP	ORPHA:353277
HP:0002353	EEG abnormality	23395	LARS2	OMIM:617021
HP:0002353	EEG abnormality	57520	HECW2	OMIM:617268
HP:0002353	EEG abnormality	8085	KMT2D	ORPHA:2322
HP:0002353	EEG abnormality	7403	KDM6A	ORPHA:2322
HP:0002353	EEG abnormality	2033	EP300	ORPHA:353284
HP:0002353	EEG abnormality	2033	EP300	OMIM:180849
HP:0002353	EEG abnormality	2561	GABRB2	OMIM:617829
HP:0002353	EEG abnormality	23780	APOL2	OMIM:181500
HP:0002353	EEG abnormality	267012	DAOA	OMIM:181500
HP:0002353	EEG abnormality	3356	HTR2A	OMIM:181500
HP:0002353	EEG abnormality	6854	SYN2	OMIM:181500
HP:0002353	EEG abnormality	1814	DRD3	OMIM:181500
HP:0002353	EEG abnormality	1312	COMT	OMIM:181500
HP:0002353	EEG abnormality	4524	MTHFR	OMIM:181500
HP:0002353	EEG abnormality	27184	DISC2	OMIM:181500
HP:0002353	EEG abnormality	65078	RTN4R	OMIM:181500
HP:0002353	EEG abnormality	80832	APOL4	OMIM:181500
HP:0002353	EEG abnormality	1116	CHI3L1	OMIM:181500
HP:0002353	EEG abnormality	4952	OCRL	ORPHA:534
HP:0002353	EEG abnormality	2067	ERCC1	OMIM:610758
HP:0002353	EEG abnormality	4948	OCA2	ORPHA:98794
HP:0002353	EEG abnormality	1725	DHPS	OMIM:618480
HP:0002353	EEG abnormality	3192	HNRNPU	OMIM:617391
HP:0002353	EEG abnormality	84340	GFM2	ORPHA:565624
HP:0002353	EEG abnormality	4704	NDUFA9	OMIM:618247
HP:0002353	EEG abnormality	116150	NUS1	OMIM:617831
HP:0002353	EEG abnormality	23511	NUP188	OMIM:618804
HP:0002353	EEG abnormality	79947	DHDDS	OMIM:617836
HP:0002353	EEG abnormality	201163	FLCN	OMIM:610883
HP:0002353	EEG abnormality	5604	MAP2K1	ORPHA:1340
HP:0002353	EEG abnormality	5605	MAP2K2	ORPHA:1340
HP:0002353	EEG abnormality	673	BRAF	ORPHA:1340
HP:0002353	EEG abnormality	23389	MED13L	ORPHA:369891
HP:0002353	EEG abnormality	112476	PRRT2	ORPHA:569
HP:0002353	EEG abnormality	23258	DENND5A	OMIM:617281
HP:0002353	EEG abnormality	2257	FGF12	OMIM:617166
HP:0002353	EEG abnormality	114548	NLRP3	ORPHA:1451
HP:0002353	EEG abnormality	6304	SATB1	OMIM:619228
HP:0002353	EEG abnormality	6304	SATB1	OMIM:619229
HP:0002353	EEG abnormality	6611	SMS	ORPHA:3063
HP:0002353	EEG abnormality	8943	AP3D1	OMIM:617050
HP:0002353	EEG abnormality	51241	COX16	OMIM:619355
HP:0002353	EEG abnormality	57003	CCDC47	OMIM:618268
HP:0002353	EEG abnormality	6711	SPTBN1	OMIM:619475
HP:0002353	EEG abnormality	23040	MYT1L	OMIM:616521
HP:0002353	EEG abnormality	259232	NALCN	ORPHA:371364
HP:0002353	EEG abnormality	285175	UNC80	ORPHA:371364
HP:0002353	EEG abnormality	526	ATP6V1B2	ORPHA:79500
HP:0002353	EEG abnormality	57465	TBC1D24	ORPHA:79500
HP:0002353	EEG abnormality	7343	UBTF	ORPHA:500180
HP:0002353	EEG abnormality	151	ADRA2B	ORPHA:86814
HP:0002353	EEG abnormality	55689	YEATS2	ORPHA:86814
HP:0002353	EEG abnormality	1501	CTNND2	ORPHA:86814
HP:0002353	EEG abnormality	10299	MARCHF6	ORPHA:86814
HP:0002353	EEG abnormality	6900	CNTN2	ORPHA:86814
HP:0002353	EEG abnormality	401474	SAMD12	ORPHA:86814
HP:0002353	EEG abnormality	8567	MADD	OMIM:619004
HP:0002353	EEG abnormality	8567	MADD	OMIM:619005
HP:0002353	EEG abnormality	10319	LAMC3	OMIM:614115
HP:0002353	EEG abnormality	1806	DPYD	ORPHA:1675
HP:0002353	EEG abnormality	8450	CUL4B	ORPHA:85293
HP:0002353	EEG abnormality	5625	PRODH	OMIM:239500
HP:0002353	EEG abnormality	3516	RBPJ	ORPHA:974
HP:0002353	EEG abnormality	4851	NOTCH1	ORPHA:974
HP:0002353	EEG abnormality	57514	ARHGAP31	ORPHA:974
HP:0002353	EEG abnormality	57572	DOCK6	ORPHA:974
HP:0002353	EEG abnormality	285203	EOGT	ORPHA:974
HP:0002353	EEG abnormality	54567	DLL4	ORPHA:974
HP:0002353	EEG abnormality	617	BCS1L	OMIM:124000
HP:0002353	EEG abnormality	84628	NTNG2	OMIM:618718
HP:0002353	EEG abnormality	3756	KCNH1	ORPHA:420561
HP:0002353	EEG abnormality	3090	HIC1	ORPHA:531
HP:0002353	EEG abnormality	5048	PAFAH1B1	ORPHA:531
HP:0002353	EEG abnormality	7531	YWHAE	ORPHA:531
HP:0002353	EEG abnormality	57502	NLGN4X	OMIM:300495
HP:0002353	EEG abnormality	84295	PHF6	OMIM:301900
HP:0002353	EEG abnormality	54802	TRIT1	OMIM:617873
HP:0002353	EEG abnormality	10479	SLC9A6	ORPHA:85278
HP:0002353	EEG abnormality	777	CACNA1E	OMIM:618285
HP:0002353	EEG abnormality	5538	PPT1	OMIM:256730
HP:0002353	EEG abnormality	8831	SYNGAP1	OMIM:612621
HP:0002353	EEG abnormality	1968	EIF2S3	ORPHA:85282
HP:0002353	EEG abnormality	9439	MED23	OMIM:614249
HP:0002353	EEG abnormality	57731	SPTBN4	OMIM:617519
HP:0002353	EEG abnormality	4693	NDP	ORPHA:649
HP:0002353	EEG abnormality	1496	CTNNA2	OMIM:618174
HP:0002353	EEG abnormality	7305	TYROBP	OMIM:221770
HP:0002353	EEG abnormality	3778	KCNMA1	OMIM:617643
HP:0002353	EEG abnormality	79693	YRDC	ORPHA:2065
HP:0002353	EEG abnormality	51002	TPRKB	ORPHA:2065
HP:0002353	EEG abnormality	84942	WDR73	ORPHA:2065
HP:0002353	EEG abnormality	55644	OSGEP	ORPHA:2065
HP:0002353	EEG abnormality	57122	NUP107	ORPHA:2065
HP:0002353	EEG abnormality	55746	NUP133	ORPHA:2065
HP:0002353	EEG abnormality	84520	GON7	ORPHA:2065
HP:0002353	EEG abnormality	112858	TP53RK	ORPHA:2065
HP:0002353	EEG abnormality	8270	LAGE3	ORPHA:2065
HP:0002353	EEG abnormality	57194	ATP10A	ORPHA:411515
HP:0002353	EEG abnormality	3785	KCNQ2	ORPHA:306
HP:0002353	EEG abnormality	3786	KCNQ3	ORPHA:306
HP:0002353	EEG abnormality	60482	SLC5A7	ORPHA:98914
HP:0002353	EEG abnormality	4649	MYO9A	ORPHA:98914
HP:0002353	EEG abnormality	1305	COL13A1	ORPHA:98914
HP:0002353	EEG abnormality	1103	CHAT	ORPHA:98914
HP:0002353	EEG abnormality	6576	SLC25A1	ORPHA:98914
HP:0002353	EEG abnormality	6843	VAMP1	ORPHA:98914
HP:0002353	EEG abnormality	375790	AGRN	ORPHA:98914
HP:0002353	EEG abnormality	127833	SYT2	ORPHA:98914
HP:0002353	EEG abnormality	6572	SLC18A3	ORPHA:98914
HP:0002353	EEG abnormality	6616	SNAP25	ORPHA:98914
HP:0002353	EEG abnormality	1181	CLCN2	ORPHA:307
HP:0002353	EEG abnormality	22858	CILK1	ORPHA:307
HP:0002353	EEG abnormality	8629	JRK	ORPHA:307
HP:0002353	EEG abnormality	144165	PRICKLE1	ORPHA:308
HP:0002353	EEG abnormality	950	SCARB2	ORPHA:308
HP:0002353	EEG abnormality	199857	ALG14	OMIM:619036
HP:0002353	EEG abnormality	343450	KCNT2	OMIM:617771
HP:0002353	EEG abnormality	10564	ARFGEF2	OMIM:608097
HP:0002353	EEG abnormality	2653	GCSH	OMIM:620423
HP:0002353	EEG abnormality	9526	MPDU1	OMIM:609180
HP:0002353	EEG abnormality	9526	MPDU1	ORPHA:79323
HP:0002353	EEG abnormality	4076	CAPRIN1	OMIM:620782
HP:0002353	EEG abnormality	8496	PPFIBP1	OMIM:620024
HP:0002353	EEG abnormality	2258	FGF13	OMIM:301058
HP:0002353	EEG abnormality	51112	TRAPPC12	ORPHA:500144
HP:0002353	EEG abnormality	51112	TRAPPC12	OMIM:617669
HP:0002353	EEG abnormality	26275	HIBCH	ORPHA:88639
HP:0002353	EEG abnormality	64801	ARV1	OMIM:617020
HP:0002353	EEG abnormality	79868	ALG13	OMIM:300884
HP:0002353	EEG abnormality	79868	ALG13	ORPHA:324422
HP:0002353	EEG abnormality	51506	UFC1	OMIM:618076
HP:0002353	EEG abnormality	6487	ST3GAL3	OMIM:615006
HP:0002353	EEG abnormality	6487	ST3GAL3	ORPHA:3451
HP:0002353	EEG abnormality	112939	NACC1	ORPHA:500545
HP:0002353	EEG abnormality	157922	CAMSAP1	OMIM:620316
HP:0002353	EEG abnormality	55780	ERMARD	ORPHA:75857
HP:0002353	EEG abnormality	55780	ERMARD	OMIM:615544
HP:0002353	EEG abnormality	3767	KCNJ11	ORPHA:79134
HP:0002353	EEG abnormality	3767	KCNJ11	OMIM:618856
HP:0002353	EEG abnormality	79731	NARS2	ORPHA:79134
HP:0002353	EEG abnormality	161725	OTUD7A	OMIM:620790
HP:0002353	EEG abnormality	4763	NF1	OMIM:162200
HP:0002353	EEG abnormality	2560	GABRB1	OMIM:617153
HP:0002353	EEG abnormality	535	ATP6V0A1	OMIM:619970
HP:0002353	EEG abnormality	7965	AIMP2	OMIM:618006
HP:0002353	EEG abnormality	3054	HCFC1	OMIM:309541
HP:0002353	EEG abnormality	5805	PTS	ORPHA:13
HP:0002353	EEG abnormality	1327	COX4I1	OMIM:619060
HP:0002353	EEG abnormality	25930	PTPN23	OMIM:618890
HP:0002353	EEG abnormality	23327	NEDD4L	OMIM:617201
HP:0002353	EEG abnormality	1822	ATN1	OMIM:618494
HP:0002353	EEG abnormality	132158	GLYCTK	OMIM:220120
HP:0002353	EEG abnormality	84896	ATAD1	OMIM:618011
HP:0002353	EEG abnormality	1641	DCX	ORPHA:2148
HP:0002353	EEG abnormality	284184	NDUFAF8	OMIM:618776
HP:0002353	EEG abnormality	55361	PI4K2A	OMIM:620732
HP:0002353	EEG abnormality	26040	SETBP1	OMIM:269150
HP:0002353	EEG abnormality	26040	SETBP1	ORPHA:798
HP:0002353	EEG abnormality	149371	EXOC8	OMIM:619076
HP:0002353	EEG abnormality	55699	IARS2	OMIM:616007
HP:0002353	EEG abnormality	8452	CUL3	OMIM:619239
HP:0002353	EEG abnormality	116115	ZNF526	OMIM:619877
HP:0002353	EEG abnormality	538	ATP7A	OMIM:309400
HP:0002353	EEG abnormality	378884	NHLRC1	ORPHA:501
HP:0002353	EEG abnormality	7957	EPM2A	ORPHA:501
HP:0002353	EEG abnormality	85365	ALG2	ORPHA:79326
HP:0002353	EEG abnormality	85365	ALG2	OMIM:607906
HP:0002353	EEG abnormality	4247	MGAT2	ORPHA:79329
HP:0002353	EEG abnormality	728294	D2HGDH	OMIM:600721
HP:0002353	EEG abnormality	2571	GAD1	OMIM:619124
HP:0002353	EEG abnormality	60558	GUF1	OMIM:617065
HP:0002353	EEG abnormality	60558	GUF1	ORPHA:3451
HP:0002353	EEG abnormality	51124	IER3IP1	OMIM:614231
HP:0002353	EEG abnormality	26227	PHGDH	OMIM:601815
HP:0002353	EEG abnormality	7358	UGDH	OMIM:618792
HP:0002353	EEG abnormality	4190	MDH1	OMIM:618959
HP:0002353	EEG abnormality	9373	PLAA	ORPHA:521426
HP:0002353	EEG abnormality	55704	CCDC88A	OMIM:617507
HP:0002353	EEG abnormality	10297	APC2	OMIM:618677
HP:0002353	EEG abnormality	9440	MED17	OMIM:613668
HP:0002353	EEG abnormality	221692	PHACTR1	ORPHA:3451
HP:0002353	EEG abnormality	221692	PHACTR1	OMIM:618298
HP:0002353	EEG abnormality	10695	CNPY3	ORPHA:3451
HP:0002353	EEG abnormality	10695	CNPY3	OMIM:617929
HP:0002353	EEG abnormality	11152	WDR45	ORPHA:3451
HP:0002353	EEG abnormality	10681	GNB5	ORPHA:542306
HP:0002353	EEG abnormality	55739	NAXD	OMIM:618321
HP:0002353	EEG abnormality	284098	PIGW	OMIM:616025
HP:0002353	EEG abnormality	440	ASNS	OMIM:615574
HP:0002353	EEG abnormality	79718	TBL1XR1	OMIM:616944
HP:0002353	EEG abnormality	51294	PCDH12	OMIM:251280
HP:0002353	EEG abnormality	64116	SLC39A8	ORPHA:468699
HP:0002353	EEG abnormality	6509	SLC1A4	ORPHA:447997
HP:0002353	EEG abnormality	2801	GOLGA2	OMIM:620240
HP:0002353	EEG abnormality	10195	ALG3	OMIM:601110
HP:0002353	EEG abnormality	51733	UPB1	OMIM:613161
HP:0002353	EEG abnormality	7040	TGFB1	OMIM:618213
HP:0002353	EEG abnormality	55753	OGDHL	OMIM:619701
HP:0002353	EEG abnormality	90952	ESAM	OMIM:620371
HP:0002353	EEG abnormality	443	ASPA	OMIM:271900
HP:0002353	EEG abnormality	51604	PIGT	OMIM:615398
HP:0002353	EEG abnormality	51604	PIGT	ORPHA:369837
HP:0002353	EEG abnormality	8913	CACNA1G	OMIM:618087
HP:0002353	EEG abnormality	8218	CLTCL1	ORPHA:453510
HP:0002353	EEG abnormality	132	ADK	OMIM:614300
HP:0002353	EEG abnormality	85440	DOCK7	ORPHA:411986
HP:0002353	EEG abnormality	57468	SLC12A5	ORPHA:293181
HP:0002353	EEG abnormality	23236	PLCB1	ORPHA:293181
HP:0002353	EEG abnormality	5277	PIGA	ORPHA:293181
HP:0002353	EEG abnormality	6709	SPTAN1	OMIM:620540
HP:0002353	EEG abnormality	6821	SUOX	OMIM:272300
HP:0002353	EEG abnormality	4615	MYD88	ORPHA:33226
HP:0002353	EEG abnormality	1468	SLC25A10	OMIM:618972
HP:0002353	EEG abnormality	79587	CARS2	OMIM:616672
HP:0002353	EEG abnormality	7280	TUBB2A	OMIM:615763
HP:0002353	EEG abnormality	10565	ARFGEF1	OMIM:619964
HP:0002353	EEG abnormality	56052	ALG1	OMIM:608540
HP:0002353	EEG abnormality	8869	ST3GAL5	OMIM:609056
HP:0002353	EEG abnormality	3737	KCNA2	ORPHA:442835
HP:0002353	EEG abnormality	8120	AP3B2	ORPHA:442835
HP:0002353	EEG abnormality	523	ATP6V1A	ORPHA:442835
HP:0002353	EEG abnormality	10991	SLC38A3	ORPHA:442835
HP:0002353	EEG abnormality	51343	FZR1	ORPHA:442835
HP:0002353	EEG abnormality	3747	KCNC2	ORPHA:442835
HP:0002353	EEG abnormality	1917	EEF1A2	ORPHA:442835
HP:0002353	EEG abnormality	2558	GABRA5	ORPHA:442835
HP:0002353	EEG abnormality	2906	GRIN2D	ORPHA:442835
HP:0002353	EEG abnormality	1213	CLTC	ORPHA:442835
HP:0002353	EEG abnormality	348980	HCN1	ORPHA:442835
HP:0002353	EEG abnormality	25977	NECAP1	ORPHA:442835
HP:0002353	EEG abnormality	23241	PACS2	ORPHA:442835
HP:0002353	EEG abnormality	16	AARS1	ORPHA:442835
HP:0002353	EEG abnormality	6334	SCN8A	ORPHA:442835
HP:0002353	EEG abnormality	2555	GABRA2	ORPHA:442835
HP:0002353	EEG abnormality	55152	DALRD3	ORPHA:442835
HP:0002353	EEG abnormality	26999	CYFIP2	ORPHA:442835
HP:0002353	EEG abnormality	4915	NTRK2	ORPHA:442835
HP:0002353	EEG abnormality	25973	PARS2	ORPHA:442835
HP:0002353	EEG abnormality	23097	CDK19	ORPHA:442835
HP:0002353	EEG abnormality	5530	PPP3CA	ORPHA:442835
HP:0002353	EEG abnormality	22906	TRAK1	ORPHA:442835
HP:0002353	EEG abnormality	2566	GABRG2	ORPHA:442835
HP:0002353	EEG abnormality	79876	UBA5	ORPHA:442835
HP:0002353	EEG abnormality	6328	SCN3A	ORPHA:442835
HP:0002353	EEG abnormality	781	CACNA2D1	ORPHA:442835
HP:0002353	EEG abnormality	10659	CELF2	ORPHA:442835
HP:0002353	EEG abnormality	774	CACNA1B	ORPHA:442835
HP:0002353	EEG abnormality	51412	ACTL6B	ORPHA:442835
HP:0002353	EEG abnormality	8867	SYNJ1	ORPHA:442835
HP:0002353	EEG abnormality	3745	KCNB1	ORPHA:442835
HP:0002353	EEG abnormality	22866	CNKSR2	ORPHA:442835
HP:0002353	EEG abnormality	84992	PIGY	OMIM:616809
HP:0002353	EEG abnormality	1798	DPAGT1	ORPHA:86309
HP:0002353	EEG abnormality	11133	KPTN	ORPHA:397612
HP:0002353	EEG abnormality	283987	HID1	OMIM:619983
HP:0002353	EEG abnormality	10588	MTHFS	OMIM:618367
HP:0002353	EEG abnormality	2893	GRIA4	OMIM:617864
HP:0002353	EEG abnormality	1593	CYP27A1	OMIM:213700
HP:0002353	EEG abnormality	22845	DOLK	ORPHA:91131
HP:0002353	EEG abnormality	4001	LMNB1	ORPHA:99027
HP:0002353	EEG abnormality	1173	AP2M1	ORPHA:1942
HP:0002353	EEG abnormality	340533	NEXMIF	ORPHA:1942
HP:0002353	EEG abnormality	6529	SLC6A1	ORPHA:1942
HP:0002353	EEG abnormality	501	ALDH7A1	ORPHA:3006
HP:0002353	EEG abnormality	11212	PLPBP	ORPHA:3006
HP:0002353	EEG abnormality	8912	CACNA1H	ORPHA:64280
HP:0002353	EEG abnormality	84720	PIGO	ORPHA:247262
HP:0002353	EEG abnormality	93210	PGAP3	ORPHA:247262
HP:0002353	EEG abnormality	27315	PGAP2	ORPHA:247262
HP:0002353	EEG abnormality	55650	PIGV	ORPHA:247262
HP:0002353	EEG abnormality	9487	PIGL	ORPHA:247262
HP:0002353	EEG abnormality	10157	AASS	ORPHA:2203
HP:0002353	EEG abnormality	785	CACNB4	OMIM:613855
HP:0002353	EEG abnormality	785	CACNB4	OMIM:607682
HP:0002353	EEG abnormality	57094	CPA6	OMIM:614417
HP:0002353	EEG abnormality	112755	STX1B	ORPHA:36387
HP:0002353	EEG abnormality	84059	ADGRV1	ORPHA:36387
HP:0002353	EEG abnormality	51422	PRKAG2	OMIM:261740
HP:0002353	EEG abnormality	94005	PIGS	OMIM:618143
HP:0002353	EEG abnormality	8818	DPM2	ORPHA:329178
HP:0002353	EEG abnormality	57176	VARS2	OMIM:615917
HP:0002353	EEG abnormality	7707	ZNF148	OMIM:617260
HP:0002353	EEG abnormality	1785	DNM2	OMIM:615368
HP:0002353	EEG abnormality	55163	PNPO	ORPHA:79096
HP:0002353	EEG abnormality	275	AMT	OMIM:620398
HP:0002353	EEG abnormality	1020	CDK5	OMIM:616342
HP:0002353	EEG abnormality	708	C1QBP	OMIM:617713
HP:0002353	EEG abnormality	2744	GLS	OMIM:618328
HP:0002353	EEG abnormality	7841	MOGS	OMIM:606056
HP:0002353	EEG abnormality	91137	SLC25A46	OMIM:619303
HP:0002353	EEG abnormality	18	ABAT	OMIM:613163
HP:0002353	EEG abnormality	4905	NSF	OMIM:619340
HP:0002353	EEG abnormality	51117	COQ4	OMIM:616276
HP:0002353	EEG abnormality	221927	BRAT1	OMIM:614498
HP:0002353	EEG abnormality	56910	STARD7	OMIM:607876
HP:0002353	EEG abnormality	23219	FBXO28	OMIM:619777
HP:0002353	EEG abnormality	2554	GABRA1	OMIM:615744
HP:0002353	EEG abnormality	55164	SHQ1	OMIM:619922
HP:0002353	EEG abnormality	10715	CERS1	OMIM:616230
HP:0002353	EEG abnormality	26960	NBEA	OMIM:619157
HP:0002353	EEG abnormality	2892	GRIA3	OMIM:300699
HP:0002353	EEG abnormality	104	ADARB1	OMIM:618862
HP:0002353	EEG abnormality	92335	STRADA	ORPHA:500533
HP:0002353	EEG abnormality	2890	GRIA1	OMIM:619931
HP:0002353	EEG abnormality	23732	FRRS1L	ORPHA:725
HP:0002353	EEG abnormality	10295	BCKDK	OMIM:614923
HP:0002353	EEG abnormality	9570	GOSR2	OMIM:620166
HP:0002353	EEG abnormality	84081	NSRP1	OMIM:620001
HP:0002353	EEG abnormality	6335	SCN9A	ORPHA:33069
HP:0002353	EEG abnormality	57526	PCDH19	ORPHA:33069
HP:0002353	EEG abnormality	1137	CHRNA4	ORPHA:98784
HP:0002353	EEG abnormality	1135	CHRNA2	ORPHA:98784
HP:0002353	EEG abnormality	57010	CABP4	ORPHA:98784
HP:0002353	EEG abnormality	1141	CHRNB2	ORPHA:98784
HP:0002353	EEG abnormality	57582	KCNT1	ORPHA:98784
HP:0002353	EEG abnormality	57582	KCNT1	OMIM:614959
HP:0002353	EEG abnormality	1392	CRH	ORPHA:98784
HP:0002353	EEG abnormality	5649	RELN	ORPHA:101046
HP:0002353	EEG abnormality	9211	LGI1	ORPHA:101046
HP:0002353	EEG abnormality	6833	ABCC8	OMIM:618857
HP:0002353	EEG abnormality	10844	TUBGCP2	OMIM:618737
HP:0002353	EEG abnormality	7407	VARS1	OMIM:617802
HP:0002353	EEG abnormality	1476	CSTB	OMIM:254800
HP:0002353	EEG abnormality	4131	MAP1B	OMIM:618918
HP:0002353	EEG abnormality	154881	KCTD7	ORPHA:263516
HP:0002353	EEG abnormality	7355	SLC35A2	ORPHA:356961
HP:0002353	EEG abnormality	5631	PRPS1	ORPHA:1187
HP:0002353	EEG abnormality	54872	PIGG	ORPHA:488635
HP:0002353	EEG abnormality	54872	PIGG	OMIM:616917
HP:0002353	EEG abnormality	1183	CLCN4	ORPHA:485350
HP:0002353	EEG abnormality	9361	LONP1	ORPHA:79243
HP:0002353	EEG abnormality	5160	PDHA1	ORPHA:79243
HP:0002353	EEG abnormality	10730	YME1L1	OMIM:617302
HP:0002353	EEG abnormality	29968	PSAT1	ORPHA:284417
HP:0002353	EEG abnormality	1605	DAG1	ORPHA:370997
HP:0002353	EEG abnormality	25814	ATXN10	ORPHA:98761
HP:0002353	EEG abnormality	2746	GLUD1	ORPHA:35878
HP:0002353	EEG abnormality	23102	TBC1D2B	OMIM:619323
HP:0002353	EEG abnormality	3746	KCNC1	OMIM:616187
HP:0002353	EEG abnormality	440138	ALG11	OMIM:613661
HP:0002353	EEG abnormality	55367	PIDD1	OMIM:619827
HP:0002353	EEG abnormality	93627	TBCK	ORPHA:488632
HP:0002353	EEG abnormality	8659	ALDH4A1	ORPHA:79101
HP:0002353	EEG abnormality	6812	STXBP1	ORPHA:599373
HP:0002353	EEG abnormality	5354	PLP1	ORPHA:280219
HP:0002353	EEG abnormality	54681	P4HTM	OMIM:618493
HP:0002353	EEG abnormality	10128	LRPPRC	ORPHA:70472
HP:0002353	EEG abnormality	25978	CHMP2B	ORPHA:275864
HP:0002353	EEG abnormality	25978	CHMP2B	ORPHA:100070
HP:0002353	EEG abnormality	5663	PSEN1	ORPHA:275864
HP:0002353	EEG abnormality	5663	PSEN1	ORPHA:100070
HP:0002353	EEG abnormality	2896	GRN	ORPHA:275864
HP:0002353	EEG abnormality	2896	GRN	ORPHA:100070
HP:0002353	EEG abnormality	54664	TMEM106B	ORPHA:275864
HP:0002353	EEG abnormality	54664	TMEM106B	ORPHA:100070
HP:0002353	EEG abnormality	8878	SQSTM1	ORPHA:275864
HP:0002353	EEG abnormality	4137	MAPT	ORPHA:275864
HP:0002353	EEG abnormality	4137	MAPT	ORPHA:100070
HP:0002353	EEG abnormality	7415	VCP	ORPHA:275864
HP:0002353	EEG abnormality	7415	VCP	ORPHA:100070
HP:0002353	EEG abnormality	114327	EFHC1	OMIM:254770
HP:0002353	EEG abnormality	7030	TFE3	OMIM:301066
HP:0002353	EEG abnormality	9289	ADGRG1	ORPHA:98889
HP:0002353	EEG abnormality	5297	PI4KA	ORPHA:98889
HP:0002353	EEG abnormality	23229	ARHGEF9	ORPHA:163985
HP:0002353	EEG abnormality	22	ABCB7	OMIM:301310
HP:0002353	EEG abnormality	2903	GRIN2A	ORPHA:98818
HP:0002353	EEG abnormality	11342	RNF13	ORPHA:544503
HP:0002353	EEG abnormality	5290	PIK3CA	ORPHA:99802
HP:0002353	EEG abnormality	2475	MTOR	ORPHA:99802
HP:0002353	EEG abnormality	10000	AKT3	ORPHA:99802
HP:0002353	EEG abnormality	9900	SV2A	OMIM:620772
HP:0002353	EEG abnormality	8131	NPRL3	ORPHA:98820
HP:0002353	EEG abnormality	10641	NPRL2	ORPHA:98820
HP:0002353	EEG abnormality	9681	DEPDC5	ORPHA:98820
HP:0002353	EEG abnormality	27286	SRPX2	ORPHA:163721
HP:0002353	EEG abnormality	3708	ITPR1	OMIM:117360
HP:0002353	EEG abnormality	80036	TRPM3	OMIM:620224
HP:0002353	EEG abnormality	387787	LIPT2	OMIM:617668
HP:0002353	EEG abnormality	6134	RPL10	ORPHA:459070
HP:0002353	EEG abnormality	23067	SETD1B	OMIM:619000
HP:0002353	EEG abnormality	5428	POLG	ORPHA:254881
HP:0010979	Abnormality of lipoprotein cholesterol concentration	3949	LDLR	ORPHA:391665
HP:0010979	Abnormality of lipoprotein cholesterol concentration	3949	LDLR	OMIM:143890
HP:0010979	Abnormality of lipoprotein cholesterol concentration	26119	LDLRAP1	ORPHA:391665
HP:0010979	Abnormality of lipoprotein cholesterol concentration	338	APOB	ORPHA:391665
HP:0010979	Abnormality of lipoprotein cholesterol concentration	338	APOB	OMIM:144010
HP:0010979	Abnormality of lipoprotein cholesterol concentration	64240	ABCG5	ORPHA:391665
HP:0010979	Abnormality of lipoprotein cholesterol concentration	64241	ABCG8	ORPHA:391665
HP:0010979	Abnormality of lipoprotein cholesterol concentration	9056	SLC7A7	ORPHA:470
HP:0010979	Abnormality of lipoprotein cholesterol concentration	6609	SMPD1	ORPHA:77293
HP:0010979	Abnormality of lipoprotein cholesterol concentration	6609	SMPD1	OMIM:607616
HP:0010979	Abnormality of lipoprotein cholesterol concentration	63036	CELA2A	OMIM:618620
HP:0010979	Abnormality of lipoprotein cholesterol concentration	213	ALB	OMIM:616000
HP:0010979	Abnormality of lipoprotein cholesterol concentration	3988	LIPA	OMIM:278000
HP:0010979	Abnormality of lipoprotein cholesterol concentration	336	APOA2	OMIM:143890
HP:0010979	Abnormality of lipoprotein cholesterol concentration	2053	EPHX2	OMIM:143890
HP:0010979	Abnormality of lipoprotein cholesterol concentration	10842	PPP1R17	OMIM:143890
HP:0010979	Abnormality of lipoprotein cholesterol concentration	2690	GHR	OMIM:143890
HP:0010979	Abnormality of lipoprotein cholesterol concentration	9149	DYRK1B	OMIM:615812
HP:0010979	Abnormality of lipoprotein cholesterol concentration	147007	TMEM199	OMIM:616829
HP:0010979	Abnormality of lipoprotein cholesterol concentration	84317	CCDC115	OMIM:616828
HP:0010979	Abnormality of lipoprotein cholesterol concentration	2273	FHL1	ORPHA:98863
HP:0010979	Abnormality of lipoprotein cholesterol concentration	2010	EMD	ORPHA:98863
HP:0010979	Abnormality of lipoprotein cholesterol concentration	20	ABCA2	OMIM:618808
HP:0010979	Abnormality of lipoprotein cholesterol concentration	1581	CYP7A1	ORPHA:209902
HP:0010979	Abnormality of lipoprotein cholesterol concentration	4040	LRP6	OMIM:610947
HP:0010979	Abnormality of lipoprotein cholesterol concentration	3931	LCAT	OMIM:136120
HP:0010979	Abnormality of lipoprotein cholesterol concentration	4000	LMNA	OMIM:151660
HP:0010979	Abnormality of lipoprotein cholesterol concentration	4000	LMNA	OMIM:616516
HP:0010979	Abnormality of lipoprotein cholesterol concentration	4000	LMNA	ORPHA:98855
HP:0010979	Abnormality of lipoprotein cholesterol concentration	4000	LMNA	ORPHA:98853
HP:0010979	Abnormality of lipoprotein cholesterol concentration	84984	CEP19	OMIM:615703
HP:0010979	Abnormality of lipoprotein cholesterol concentration	10165	SLC25A13	ORPHA:247598
HP:0010979	Abnormality of lipoprotein cholesterol concentration	4023	LPL	OMIM:144250
HP:0010979	Abnormality of lipoprotein cholesterol concentration	7274	TTPA	OMIM:277460
HP:0010979	Abnormality of lipoprotein cholesterol concentration	348	APOE	ORPHA:412
HP:0010979	Abnormality of lipoprotein cholesterol concentration	79188	TMEM43	ORPHA:98853
HP:0010979	Abnormality of lipoprotein cholesterol concentration	23345	SYNE1	ORPHA:98853
HP:0010979	Abnormality of lipoprotein cholesterol concentration	23224	SYNE2	ORPHA:98853
HP:0010979	Abnormality of lipoprotein cholesterol concentration	92482	BBIP1	ORPHA:110
HP:0010979	Abnormality of lipoprotein cholesterol concentration	80184	CEP290	ORPHA:110
HP:0010979	Abnormality of lipoprotein cholesterol concentration	11020	IFT27	ORPHA:110
HP:0010979	Abnormality of lipoprotein cholesterol concentration	582	BBS1	ORPHA:110
HP:0010979	Abnormality of lipoprotein cholesterol concentration	49855	SCAPER	ORPHA:110
HP:0010979	Abnormality of lipoprotein cholesterol concentration	4867	NPHP1	ORPHA:110
HP:0010979	Abnormality of lipoprotein cholesterol concentration	51057	WDPCP	ORPHA:110
HP:0010979	Abnormality of lipoprotein cholesterol concentration	132320	SCLT1	ORPHA:110
HP:0010979	Abnormality of lipoprotein cholesterol concentration	27241	BBS9	ORPHA:110
HP:0010979	Abnormality of lipoprotein cholesterol concentration	22954	TRIM32	ORPHA:110
HP:0010979	Abnormality of lipoprotein cholesterol concentration	54903	MKS1	ORPHA:110
HP:0010979	Abnormality of lipoprotein cholesterol concentration	79738	BBS10	ORPHA:110
HP:0010979	Abnormality of lipoprotein cholesterol concentration	123016	TTC8	ORPHA:110
HP:0010979	Abnormality of lipoprotein cholesterol concentration	26160	IFT172	ORPHA:110
HP:0010979	Abnormality of lipoprotein cholesterol concentration	583	BBS2	ORPHA:110
HP:0010979	Abnormality of lipoprotein cholesterol concentration	585	BBS4	ORPHA:110
HP:0010979	Abnormality of lipoprotein cholesterol concentration	8195	MKKS	ORPHA:110
HP:0010979	Abnormality of lipoprotein cholesterol concentration	54585	LZTFL1	ORPHA:110
HP:0010979	Abnormality of lipoprotein cholesterol concentration	55212	BBS7	ORPHA:110
HP:0010979	Abnormality of lipoprotein cholesterol concentration	166379	BBS12	ORPHA:110
HP:0010979	Abnormality of lipoprotein cholesterol concentration	10806	SDCCAG8	ORPHA:110
HP:0010979	Abnormality of lipoprotein cholesterol concentration	157657	CFAP418	ORPHA:110
HP:0010979	Abnormality of lipoprotein cholesterol concentration	84100	ARL6	ORPHA:110
HP:0010979	Abnormality of lipoprotein cholesterol concentration	129880	BBS5	ORPHA:110
HP:0010979	Abnormality of lipoprotein cholesterol concentration	80173	IFT74	ORPHA:110
HP:0010979	Abnormality of lipoprotein cholesterol concentration	2590	GALNT2	OMIM:618885
HP:0010979	Abnormality of lipoprotein cholesterol concentration	335	APOA1	OMIM:618463
HP:0010979	Abnormality of lipoprotein cholesterol concentration	335	APOA1	OMIM:619836
HP:0010979	Abnormality of lipoprotein cholesterol concentration	335	APOA1	ORPHA:425
HP:0010979	Abnormality of lipoprotein cholesterol concentration	335	APOA1	OMIM:620657
HP:0010979	Abnormality of lipoprotein cholesterol concentration	19	ABCA1	OMIM:604091
HP:0010979	Abnormality of lipoprotein cholesterol concentration	19	ABCA1	OMIM:205400
HP:0010979	Abnormality of lipoprotein cholesterol concentration	19	ABCA1	ORPHA:425
HP:0010979	Abnormality of lipoprotein cholesterol concentration	7840	ALMS1	OMIM:203800
HP:0010979	Abnormality of lipoprotein cholesterol concentration	11145	PLAAT3	OMIM:620683
HP:0010979	Abnormality of lipoprotein cholesterol concentration	83550	GPR101	ORPHA:963
HP:0010979	Abnormality of lipoprotein cholesterol concentration	9049	AIP	ORPHA:963
HP:0010979	Abnormality of lipoprotein cholesterol concentration	100033413	SNORD116-1	OMIM:176270
HP:0010979	Abnormality of lipoprotein cholesterol concentration	8924	HERC2	OMIM:176270
HP:0010979	Abnormality of lipoprotein cholesterol concentration	23742	NPAP1	OMIM:176270
HP:0010979	Abnormality of lipoprotein cholesterol concentration	338433	SNORD115-1	OMIM:176270
HP:0010979	Abnormality of lipoprotein cholesterol concentration	54551	MAGEL2	OMIM:176270
HP:0010979	Abnormality of lipoprotein cholesterol concentration	7681	MKRN3	OMIM:176270
HP:0010979	Abnormality of lipoprotein cholesterol concentration	145624	PWAR1	OMIM:176270
HP:0010979	Abnormality of lipoprotein cholesterol concentration	3653	IPW	OMIM:176270
HP:0010979	Abnormality of lipoprotein cholesterol concentration	791114	PWRN1	OMIM:176270
HP:0010979	Abnormality of lipoprotein cholesterol concentration	5130	PCYT1A	OMIM:620680
HP:0010979	Abnormality of lipoprotein cholesterol concentration	4547	MTTP	ORPHA:14
HP:0010979	Abnormality of lipoprotein cholesterol concentration	5468	PPARG	OMIM:604367
HP:0010979	Abnormality of lipoprotein cholesterol concentration	84699	CREB3L3	OMIM:619324
HP:0010979	Abnormality of lipoprotein cholesterol concentration	6307	MSMO1	OMIM:616834
HP:0010979	Abnormality of lipoprotein cholesterol concentration	5696	PSMB8	OMIM:256040
HP:0010979	Abnormality of lipoprotein cholesterol concentration	2629	GBA1	ORPHA:77259
HP:0010979	Abnormality of lipoprotein cholesterol concentration	950	SCARB2	ORPHA:77259
HP:0010979	Abnormality of lipoprotein cholesterol concentration	116519	APOA5	OMIM:145750
HP:0010979	Abnormality of lipoprotein cholesterol concentration	116519	APOA5	OMIM:144650
HP:0010979	Abnormality of lipoprotein cholesterol concentration	197131	UBR1	OMIM:243800
HP:0010979	Abnormality of lipoprotein cholesterol concentration	27329	ANGPTL3	OMIM:605019
HP:0010979	Abnormality of lipoprotein cholesterol concentration	51128	SAR1B	OMIM:246700
HP:0010979	Abnormality of lipoprotein cholesterol concentration	2222	FDFT1	OMIM:618156
HP:0010979	Abnormality of lipoprotein cholesterol concentration	29929	ALG6	ORPHA:79320
HP:0010979	Abnormality of lipoprotein cholesterol concentration	55768	NGLY1	ORPHA:404454
HP:0010979	Abnormality of lipoprotein cholesterol concentration	2683	B4GALT1	OMIM:620364
HP:0010979	Abnormality of lipoprotein cholesterol concentration	2683	B4GALT1	ORPHA:79332
HP:0010979	Abnormality of lipoprotein cholesterol concentration	338328	GPIHBP1	OMIM:615947
HP:0010979	Abnormality of lipoprotein cholesterol concentration	3990	LIPC	OMIM:614025
HP:0010979	Abnormality of lipoprotein cholesterol concentration	3990	LIPC	ORPHA:140905
HP:0010979	Abnormality of lipoprotein cholesterol concentration	345	APOC3	OMIM:614028
HP:0010979	Abnormality of lipoprotein cholesterol concentration	1071	CETP	OMIM:143470
HP:0010979	Abnormality of lipoprotein cholesterol concentration	344	APOC2	OMIM:207750
HP:0010979	Abnormality of lipoprotein cholesterol concentration	255738	PCSK9	OMIM:603776
HP:0002804	Arthrogryposis multiplex congenita	1718	DHCR24	OMIM:602398
HP:0002804	Arthrogryposis multiplex congenita	1145	CHRNE	OMIM:608931
HP:0002804	Arthrogryposis multiplex congenita	2673	GFPT1	OMIM:608931
HP:0002804	Arthrogryposis multiplex congenita	3691	ITGB4	OMIM:226730
HP:0002804	Arthrogryposis multiplex congenita	5339	PLEC	OMIM:226730
HP:0002804	Arthrogryposis multiplex congenita	8506	CNTNAP1	OMIM:618186
HP:0002804	Arthrogryposis multiplex congenita	91754	NEK9	OMIM:614262
HP:0002804	Arthrogryposis multiplex congenita	5913	RAPSN	OMIM:616326
HP:0002804	Arthrogryposis multiplex congenita	5913	RAPSN	ORPHA:994
HP:0002804	Arthrogryposis multiplex congenita	2632	GBE1	OMIM:232500
HP:0002804	Arthrogryposis multiplex congenita	55627	SMPD4	OMIM:618622
HP:0002804	Arthrogryposis multiplex congenita	1134	CHRNA1	OMIM:608930
HP:0002804	Arthrogryposis multiplex congenita	4703	NEB	OMIM:256030
HP:0002804	Arthrogryposis multiplex congenita	4703	NEB	ORPHA:171436
HP:0002804	Arthrogryposis multiplex congenita	4703	NEB	ORPHA:171433
HP:0002804	Arthrogryposis multiplex congenita	4703	NEB	ORPHA:171430
HP:0002804	Arthrogryposis multiplex congenita	4703	NEB	OMIM:619334
HP:0002804	Arthrogryposis multiplex congenita	4703	NEB	ORPHA:171439
HP:0002804	Arthrogryposis multiplex congenita	2629	GBA1	OMIM:608013
HP:0002804	Arthrogryposis multiplex congenita	2629	GBA1	ORPHA:85212
HP:0002804	Arthrogryposis multiplex congenita	2629	GBA1	ORPHA:77260
HP:0002804	Arthrogryposis multiplex congenita	55593	OTUD5	OMIM:301056
HP:0002804	Arthrogryposis multiplex congenita	59341	TRPV4	OMIM:156530
HP:0002804	Arthrogryposis multiplex congenita	59341	TRPV4	OMIM:600175
HP:0002804	Arthrogryposis multiplex congenita	58	ACTA1	ORPHA:171436
HP:0002804	Arthrogryposis multiplex congenita	58	ACTA1	ORPHA:171433
HP:0002804	Arthrogryposis multiplex congenita	58	ACTA1	ORPHA:171430
HP:0002804	Arthrogryposis multiplex congenita	58	ACTA1	OMIM:161800
HP:0002804	Arthrogryposis multiplex congenita	58	ACTA1	ORPHA:171439
HP:0002804	Arthrogryposis multiplex congenita	7169	TPM2	ORPHA:171436
HP:0002804	Arthrogryposis multiplex congenita	7169	TPM2	OMIM:108120
HP:0002804	Arthrogryposis multiplex congenita	7169	TPM2	ORPHA:171439
HP:0002804	Arthrogryposis multiplex congenita	10324	KLHL41	ORPHA:171436
HP:0002804	Arthrogryposis multiplex congenita	10324	KLHL41	ORPHA:171433
HP:0002804	Arthrogryposis multiplex congenita	10324	KLHL41	ORPHA:171430
HP:0002804	Arthrogryposis multiplex congenita	10324	KLHL41	OMIM:615731
HP:0002804	Arthrogryposis multiplex congenita	10324	KLHL41	ORPHA:171439
HP:0002804	Arthrogryposis multiplex congenita	56203	LMOD3	ORPHA:171436
HP:0002804	Arthrogryposis multiplex congenita	56203	LMOD3	ORPHA:171430
HP:0002804	Arthrogryposis multiplex congenita	1073	CFL2	ORPHA:171436
HP:0002804	Arthrogryposis multiplex congenita	60482	SLC5A7	OMIM:617143
HP:0002804	Arthrogryposis multiplex congenita	60482	SLC5A7	ORPHA:98914
HP:0002804	Arthrogryposis multiplex congenita	2073	ERCC5	OMIM:616570
HP:0002804	Arthrogryposis multiplex congenita	2073	ERCC5	ORPHA:1466
HP:0002804	Arthrogryposis multiplex congenita	7170	TPM3	ORPHA:171433
HP:0002804	Arthrogryposis multiplex congenita	7170	TPM3	ORPHA:171439
HP:0002804	Arthrogryposis multiplex congenita	57222	ERGIC1	OMIM:208100
HP:0002804	Arthrogryposis multiplex congenita	6536	SLC6A9	OMIM:617301
HP:0002804	Arthrogryposis multiplex congenita	131377	KLHL40	ORPHA:171430
HP:0002804	Arthrogryposis multiplex congenita	84162	BLTP1	OMIM:617822
HP:0002804	Arthrogryposis multiplex congenita	23729	SHPK	ORPHA:440713
HP:0002804	Arthrogryposis multiplex congenita	79158	GNPTAB	OMIM:252500
HP:0002804	Arthrogryposis multiplex congenita	3767	KCNJ11	ORPHA:99885
HP:0002804	Arthrogryposis multiplex congenita	6774	STAT3	ORPHA:99885
HP:0002804	Arthrogryposis multiplex congenita	2645	GCK	ORPHA:99885
HP:0002804	Arthrogryposis multiplex congenita	3651	PDX1	ORPHA:99885
HP:0002804	Arthrogryposis multiplex congenita	6833	ABCC8	ORPHA:99885
HP:0002804	Arthrogryposis multiplex congenita	3630	INS	ORPHA:99885
HP:0002804	Arthrogryposis multiplex congenita	2067	ERCC1	OMIM:610758
HP:0002804	Arthrogryposis multiplex congenita	2067	ERCC1	ORPHA:1466
HP:0002804	Arthrogryposis multiplex congenita	2733	GLE1	OMIM:253310
HP:0002804	Arthrogryposis multiplex congenita	2733	GLE1	OMIM:611890
HP:0002804	Arthrogryposis multiplex congenita	56975	FAM20C	OMIM:259775
HP:0002804	Arthrogryposis multiplex congenita	6904	TBCD	ORPHA:496641
HP:0002804	Arthrogryposis multiplex congenita	6904	TBCD	OMIM:617193
HP:0002804	Arthrogryposis multiplex congenita	1146	CHRNG	OMIM:265000
HP:0002804	Arthrogryposis multiplex congenita	1146	CHRNG	ORPHA:2990
HP:0002804	Arthrogryposis multiplex congenita	5980	REV3L	ORPHA:570
HP:0002804	Arthrogryposis multiplex congenita	23129	PLXND1	ORPHA:570
HP:0002804	Arthrogryposis multiplex congenita	63925	ZNF335	OMIM:615095
HP:0002804	Arthrogryposis multiplex congenita	55906	ZC4H2	OMIM:314580
HP:0002804	Arthrogryposis multiplex congenita	1020	CDK5	OMIM:616342
HP:0002804	Arthrogryposis multiplex congenita	23345	SYNE1	OMIM:618484
HP:0002804	Arthrogryposis multiplex congenita	23345	SYNE1	ORPHA:319332
HP:0002804	Arthrogryposis multiplex congenita	113189	CHST14	ORPHA:2953
HP:0002804	Arthrogryposis multiplex congenita	113189	CHST14	OMIM:601776
HP:0002804	Arthrogryposis multiplex congenita	29940	DSE	ORPHA:2953
HP:0002804	Arthrogryposis multiplex congenita	5119	CHMP1A	OMIM:614961
HP:0002804	Arthrogryposis multiplex congenita	91869	RFT1	ORPHA:244310
HP:0002804	Arthrogryposis multiplex congenita	2068	ERCC2	ORPHA:1466
HP:0002804	Arthrogryposis multiplex congenita	2074	ERCC6	ORPHA:1466
HP:0002804	Arthrogryposis multiplex congenita	2074	ERCC6	OMIM:214150
HP:0002804	Arthrogryposis multiplex congenita	9326	ZNHIT3	ORPHA:2836
HP:0002804	Arthrogryposis multiplex congenita	6663	SOX10	ORPHA:163746
HP:0002804	Arthrogryposis multiplex congenita	6663	SOX10	OMIM:609136
HP:0002804	Arthrogryposis multiplex congenita	55681	SCYL2	OMIM:618766
HP:0002804	Arthrogryposis multiplex congenita	51008	ASCC1	OMIM:616867
HP:0002804	Arthrogryposis multiplex congenita	57211	ADGRG6	OMIM:616503
HP:0002804	Arthrogryposis multiplex congenita	9325	TRIP4	OMIM:616866
HP:0002804	Arthrogryposis multiplex congenita	7136	TNNI2	OMIM:601680
HP:0002804	Arthrogryposis multiplex congenita	259232	NALCN	ORPHA:562528
HP:0002804	Arthrogryposis multiplex congenita	283989	TSEN54	ORPHA:166063
HP:0002804	Arthrogryposis multiplex congenita	26276	VPS33B	OMIM:208085
HP:0002804	Arthrogryposis multiplex congenita	57498	KIDINS220	OMIM:619501
HP:0002804	Arthrogryposis multiplex congenita	26053	AUTS2	ORPHA:352490
HP:0002804	Arthrogryposis multiplex congenita	26053	AUTS2	OMIM:615834
HP:0002804	Arthrogryposis multiplex congenita	7317	UBA1	OMIM:301830
HP:0002804	Arthrogryposis multiplex congenita	7317	UBA1	ORPHA:1145
HP:0002804	Arthrogryposis multiplex congenita	4604	MYBPC1	OMIM:614335
HP:0002804	Arthrogryposis multiplex congenita	2783	GNB2	OMIM:619503
HP:0002804	Arthrogryposis multiplex congenita	63894	VIPAS39	OMIM:613404
HP:0002804	Arthrogryposis multiplex congenita	2065	ERBB3	OMIM:243180
HP:0002804	Arthrogryposis multiplex congenita	2065	ERBB3	OMIM:607598
HP:0002804	Arthrogryposis multiplex congenita	54551	MAGEL2	OMIM:615547
HP:0002804	Arthrogryposis multiplex congenita	54551	MAGEL2	ORPHA:994
HP:0002804	Arthrogryposis multiplex congenita	23265	EXOC7	OMIM:619072
HP:0002804	Arthrogryposis multiplex congenita	55605	KIF21A	ORPHA:994
HP:0002804	Arthrogryposis multiplex congenita	4927	NUP88	ORPHA:994
HP:0002804	Arthrogryposis multiplex congenita	4927	NUP88	OMIM:618393
HP:0002804	Arthrogryposis multiplex congenita	7846	TUBA1A	ORPHA:994
HP:0002804	Arthrogryposis multiplex congenita	4654	MYOD1	ORPHA:994
HP:0002804	Arthrogryposis multiplex congenita	4593	MUSK	ORPHA:994
HP:0002804	Arthrogryposis multiplex congenita	4593	MUSK	OMIM:208150
HP:0002804	Arthrogryposis multiplex congenita	6572	SLC18A3	ORPHA:994
HP:0002804	Arthrogryposis multiplex congenita	6572	SLC18A3	ORPHA:98914
HP:0002804	Arthrogryposis multiplex congenita	285489	DOK7	ORPHA:994
HP:0002804	Arthrogryposis multiplex congenita	1182	CLCN3	OMIM:619512
HP:0002804	Arthrogryposis multiplex congenita	63895	PIEZO2	OMIM:114300
HP:0002804	Arthrogryposis multiplex congenita	63895	PIEZO2	ORPHA:2461
HP:0002804	Arthrogryposis multiplex congenita	94005	PIGS	OMIM:618143
HP:0002804	Arthrogryposis multiplex congenita	5530	PPP3CA	OMIM:618265
HP:0002804	Arthrogryposis multiplex congenita	1103	CHAT	OMIM:254210
HP:0002804	Arthrogryposis multiplex congenita	1103	CHAT	ORPHA:98914
HP:0002804	Arthrogryposis multiplex congenita	100128927	ZBTB42	OMIM:616248
HP:0002804	Arthrogryposis multiplex congenita	1861	TOR1A	OMIM:618947
HP:0002804	Arthrogryposis multiplex congenita	23443	SLC35A3	OMIM:615553
HP:0002804	Arthrogryposis multiplex congenita	11340	EXOSC8	ORPHA:2254
HP:0002804	Arthrogryposis multiplex congenita	5393	EXOSC9	ORPHA:2254
HP:0002804	Arthrogryposis multiplex congenita	23287	AGTPBP1	ORPHA:2254
HP:0002804	Arthrogryposis multiplex congenita	51010	EXOSC3	ORPHA:2254
HP:0002804	Arthrogryposis multiplex congenita	7443	VRK1	ORPHA:2254
HP:0002804	Arthrogryposis multiplex congenita	91137	SLC25A46	ORPHA:2254
HP:0002804	Arthrogryposis multiplex congenita	5352	PLOD2	ORPHA:2771
HP:0002804	Arthrogryposis multiplex congenita	60681	FKBP10	ORPHA:2771
HP:0002804	Arthrogryposis multiplex congenita	55165	CEP55	OMIM:236500
HP:0002804	Arthrogryposis multiplex congenita	246329	STAC3	ORPHA:168572
HP:0002804	Arthrogryposis multiplex congenita	3800	KIF5C	OMIM:615282
HP:0002804	Arthrogryposis multiplex congenita	5297	PI4KA	OMIM:616531
HP:0002804	Arthrogryposis multiplex congenita	23522	KAT6B	ORPHA:85201
HP:0002804	Arthrogryposis multiplex congenita	84340	GFM2	OMIM:618397
HP:0002804	Arthrogryposis multiplex congenita	9928	KIF14	OMIM:616258
HP:0002804	Arthrogryposis multiplex congenita	163175	LGI4	OMIM:617468
HP:0002804	Arthrogryposis multiplex congenita	4649	MYO9A	ORPHA:98914
HP:0002804	Arthrogryposis multiplex congenita	1305	COL13A1	ORPHA:98914
HP:0002804	Arthrogryposis multiplex congenita	6576	SLC25A1	ORPHA:98914
HP:0002804	Arthrogryposis multiplex congenita	6843	VAMP1	ORPHA:98914
HP:0002804	Arthrogryposis multiplex congenita	375790	AGRN	ORPHA:98914
HP:0002804	Arthrogryposis multiplex congenita	127833	SYT2	ORPHA:98914
HP:0002804	Arthrogryposis multiplex congenita	6616	SNAP25	ORPHA:98914
HP:0002804	Arthrogryposis multiplex congenita	23396	PIP5K1C	OMIM:611369
HP:0002804	Arthrogryposis multiplex congenita	3911	LAMA5	OMIM:620076
HP:0002804	Arthrogryposis multiplex congenita	4626	MYH8	OMIM:158300
HP:0002804	Arthrogryposis multiplex congenita	4621	MYH3	OMIM:178110
HP:0002804	Arthrogryposis multiplex congenita	4621	MYH3	ORPHA:2990
HP:0002804	Arthrogryposis multiplex congenita	9319	TRIP13	OMIM:617598
HP:0002804	Arthrogryposis multiplex congenita	777	CACNA1E	OMIM:618285
HP:0002804	Arthrogryposis multiplex congenita	200205	IBA57	OMIM:615330
HP:0002804	Arthrogryposis multiplex congenita	4000	LMNA	ORPHA:1662
HP:0002804	Arthrogryposis multiplex congenita	10269	ZMPSTE24	ORPHA:1662
HP:0002804	Arthrogryposis multiplex congenita	84665	MYPN	ORPHA:171439
HP:0002804	Arthrogryposis multiplex congenita	390594	KBTBD13	ORPHA:171439
HP:0002804	Arthrogryposis multiplex congenita	10195	ALG3	ORPHA:79321
HP:0002804	Arthrogryposis multiplex congenita	10195	ALG3	OMIM:601110
HP:0002804	Arthrogryposis multiplex congenita	3339	HSPG2	ORPHA:800
HP:0002804	Arthrogryposis multiplex congenita	23299	BICD2	OMIM:618291
HP:0002804	Arthrogryposis multiplex congenita	91574	MTRFR	ORPHA:320375
HP:0002804	Arthrogryposis multiplex congenita	54101	RIPK4	OMIM:263650
HP:0002804	Arthrogryposis multiplex congenita	1291	COL6A1	OMIM:158810
HP:0002804	Arthrogryposis multiplex congenita	8216	LZTR1	OMIM:605275
HP:0002804	Arthrogryposis multiplex congenita	2201	FBN2	ORPHA:115
HP:0020006	Ciliary body coloboma	54880	BCOR	OMIM:309800
HP:0020006	Ciliary body coloboma	8260	NAA10	OMIM:309800
HP:0005661	Salmonella osteomyelitis	3459	IFNGR1	OMIM:209950
HP:0005661	Salmonella osteomyelitis	3459	IFNGR1	OMIM:615978
HP:0005661	Salmonella osteomyelitis	3594	IL12RB1	ORPHA:319552
HP:0001371	Flexion contracture	64093	SMOC1	OMIM:206920
HP:0001371	Flexion contracture	64093	SMOC1	ORPHA:1106
HP:0001371	Flexion contracture	10381	TUBB3	OMIM:600638
HP:0001371	Flexion contracture	57863	CADM3	OMIM:619519
HP:0001371	Flexion contracture	9719	ADAMTSL2	OMIM:231050
HP:0001371	Flexion contracture	64374	SIL1	OMIM:248800
HP:0001371	Flexion contracture	2218	FKTN	ORPHA:272
HP:0001371	Flexion contracture	2218	FKTN	OMIM:611588
HP:0001371	Flexion contracture	2218	FKTN	OMIM:253800
HP:0001371	Flexion contracture	3763	KCNJ6	ORPHA:435628
HP:0001371	Flexion contracture	3763	KCNJ6	OMIM:614098
HP:0001371	Flexion contracture	9131	AIFM1	OMIM:300232
HP:0001371	Flexion contracture	3094	HINT1	ORPHA:324442
HP:0001371	Flexion contracture	8506	CNTNAP1	OMIM:618186
HP:0001371	Flexion contracture	5393	EXOSC9	OMIM:618065
HP:0001371	Flexion contracture	55823	VPS11	OMIM:616683
HP:0001371	Flexion contracture	5339	PLEC	ORPHA:158684
HP:0001371	Flexion contracture	5339	PLEC	OMIM:612138
HP:0001371	Flexion contracture	5339	PLEC	OMIM:613723
HP:0001371	Flexion contracture	3691	ITGB4	ORPHA:158684
HP:0001371	Flexion contracture	4593	MUSK	OMIM:616325
HP:0001371	Flexion contracture	2895	GRID2	OMIM:616204
HP:0001371	Flexion contracture	1161	ERCC8	ORPHA:90324
HP:0001371	Flexion contracture	1161	ERCC8	ORPHA:90322
HP:0001371	Flexion contracture	2074	ERCC6	ORPHA:90324
HP:0001371	Flexion contracture	2074	ERCC6	ORPHA:90322
HP:0001371	Flexion contracture	2074	ERCC6	OMIM:214150
HP:0001371	Flexion contracture	4010	LMX1B	ORPHA:2614
HP:0001371	Flexion contracture	775	CACNA1C	OMIM:620029
HP:0001371	Flexion contracture	825	CAPN3	OMIM:253600
HP:0001371	Flexion contracture	825	CAPN3	ORPHA:267
HP:0001371	Flexion contracture	4047	LSS	ORPHA:2850
HP:0001371	Flexion contracture	197	AHSG	ORPHA:2850
HP:0001371	Flexion contracture	3694	ITGB6	ORPHA:2850
HP:0001371	Flexion contracture	5352	PLOD2	OMIM:609220
HP:0001371	Flexion contracture	64324	NSD1	ORPHA:821
HP:0001371	Flexion contracture	10297	APC2	ORPHA:821
HP:0001371	Flexion contracture	2067	ERCC1	ORPHA:90322
HP:0001371	Flexion contracture	1303	COL12A1	ORPHA:75840
HP:0001371	Flexion contracture	1303	COL12A1	OMIM:616471
HP:0001371	Flexion contracture	1303	COL12A1	OMIM:616470
HP:0001371	Flexion contracture	1303	COL12A1	ORPHA:536516
HP:0001371	Flexion contracture	1303	COL12A1	ORPHA:610
HP:0001371	Flexion contracture	1291	COL6A1	ORPHA:75840
HP:0001371	Flexion contracture	1291	COL6A1	OMIM:254090
HP:0001371	Flexion contracture	1291	COL6A1	ORPHA:610
HP:0001371	Flexion contracture	1292	COL6A2	ORPHA:75840
HP:0001371	Flexion contracture	1292	COL6A2	ORPHA:610
HP:0001371	Flexion contracture	1293	COL6A3	ORPHA:75840
HP:0001371	Flexion contracture	1293	COL6A3	ORPHA:610
HP:0001371	Flexion contracture	5447	POR	ORPHA:95699
HP:0001371	Flexion contracture	5447	POR	OMIM:207410
HP:0001371	Flexion contracture	4072	EPCAM	ORPHA:144
HP:0001371	Flexion contracture	4292	MLH1	ORPHA:144
HP:0001371	Flexion contracture	5395	PMS2	ORPHA:144
HP:0001371	Flexion contracture	7048	TGFBR2	ORPHA:144
HP:0001371	Flexion contracture	3845	KRAS	ORPHA:144
HP:0001371	Flexion contracture	5290	PIK3CA	ORPHA:144
HP:0001371	Flexion contracture	2956	MSH6	ORPHA:144
HP:0001371	Flexion contracture	5378	PMS1	ORPHA:144
HP:0001371	Flexion contracture	4436	MSH2	ORPHA:144
HP:0001371	Flexion contracture	4312	MMP1	ORPHA:79408
HP:0001371	Flexion contracture	1294	COL7A1	ORPHA:79408
HP:0001371	Flexion contracture	1294	COL7A1	OMIM:226600
HP:0001371	Flexion contracture	1294	COL7A1	ORPHA:89842
HP:0001371	Flexion contracture	10479	SLC9A6	OMIM:300243
HP:0001371	Flexion contracture	6775	STAT4	ORPHA:85408
HP:0001371	Flexion contracture	3560	IL2RB	ORPHA:85408
HP:0001371	Flexion contracture	79722	ANKRD55	ORPHA:85408
HP:0001371	Flexion contracture	26191	PTPN22	ORPHA:85408
HP:0001371	Flexion contracture	919	CD247	ORPHA:85408
HP:0001371	Flexion contracture	3559	IL2RA	ORPHA:85408
HP:0001371	Flexion contracture	5771	PTPN2	ORPHA:85408
HP:0001371	Flexion contracture	8443	GNPAT	OMIM:222765
HP:0001371	Flexion contracture	58	ACTA1	ORPHA:171436
HP:0001371	Flexion contracture	58	ACTA1	ORPHA:171433
HP:0001371	Flexion contracture	58	ACTA1	ORPHA:171430
HP:0001371	Flexion contracture	58	ACTA1	ORPHA:2020
HP:0001371	Flexion contracture	58	ACTA1	ORPHA:171439
HP:0001371	Flexion contracture	7169	TPM2	ORPHA:171436
HP:0001371	Flexion contracture	7169	TPM2	ORPHA:2020
HP:0001371	Flexion contracture	7169	TPM2	ORPHA:171439
HP:0001371	Flexion contracture	4703	NEB	ORPHA:171436
HP:0001371	Flexion contracture	4703	NEB	ORPHA:171433
HP:0001371	Flexion contracture	4703	NEB	ORPHA:171430
HP:0001371	Flexion contracture	4703	NEB	ORPHA:171439
HP:0001371	Flexion contracture	4703	NEB	OMIM:256030
HP:0001371	Flexion contracture	10324	KLHL41	ORPHA:171436
HP:0001371	Flexion contracture	10324	KLHL41	ORPHA:171433
HP:0001371	Flexion contracture	10324	KLHL41	ORPHA:171430
HP:0001371	Flexion contracture	10324	KLHL41	ORPHA:171439
HP:0001371	Flexion contracture	56203	LMOD3	ORPHA:171436
HP:0001371	Flexion contracture	56203	LMOD3	ORPHA:171430
HP:0001371	Flexion contracture	56203	LMOD3	OMIM:616165
HP:0001371	Flexion contracture	1073	CFL2	ORPHA:171436
HP:0001371	Flexion contracture	54968	TMEM70	ORPHA:1194
HP:0001371	Flexion contracture	3020	H3-3A	OMIM:619720
HP:0001371	Flexion contracture	7170	TPM3	ORPHA:171433
HP:0001371	Flexion contracture	7170	TPM3	ORPHA:2020
HP:0001371	Flexion contracture	7170	TPM3	ORPHA:171439
HP:0001371	Flexion contracture	7170	TPM3	OMIM:609284
HP:0001371	Flexion contracture	6536	SLC6A9	OMIM:617301
HP:0001371	Flexion contracture	131377	KLHL40	ORPHA:171430
HP:0001371	Flexion contracture	131377	KLHL40	OMIM:615348
HP:0001371	Flexion contracture	1785	DNM2	OMIM:615368
HP:0001371	Flexion contracture	1785	DNM2	OMIM:160150
HP:0001371	Flexion contracture	64218	SEMA4A	ORPHA:440437
HP:0001371	Flexion contracture	472	ATM	ORPHA:440437
HP:0001371	Flexion contracture	5426	POLE	ORPHA:440437
HP:0001371	Flexion contracture	675	BRCA2	ORPHA:440437
HP:0001371	Flexion contracture	657	BMPR1A	ORPHA:440437
HP:0001371	Flexion contracture	6224	RPS20	ORPHA:440437
HP:0001371	Flexion contracture	4595	MUTYH	ORPHA:440437
HP:0001371	Flexion contracture	5424	POLD1	ORPHA:440437
HP:0001371	Flexion contracture	11200	CHEK2	ORPHA:440437
HP:0001371	Flexion contracture	65082	VPS33A	OMIM:617303
HP:0001371	Flexion contracture	65082	VPS33A	ORPHA:505248
HP:0001371	Flexion contracture	25914	RTTN	OMIM:614833
HP:0001371	Flexion contracture	84197	POMK	OMIM:615249
HP:0001371	Flexion contracture	4000	LMNA	OMIM:248370
HP:0001371	Flexion contracture	4000	LMNA	ORPHA:157973
HP:0001371	Flexion contracture	4000	LMNA	ORPHA:90153
HP:0001371	Flexion contracture	128486	FITM2	OMIM:618635
HP:0001371	Flexion contracture	23431	AP4E1	OMIM:613744
HP:0001371	Flexion contracture	3908	LAMA2	ORPHA:258
HP:0001371	Flexion contracture	3908	LAMA2	OMIM:607855
HP:0001371	Flexion contracture	29925	GMPPB	ORPHA:353327
HP:0001371	Flexion contracture	2673	GFPT1	ORPHA:353327
HP:0001371	Flexion contracture	1798	DPAGT1	ORPHA:353327
HP:0001371	Flexion contracture	1798	DPAGT1	ORPHA:86309
HP:0001371	Flexion contracture	1798	DPAGT1	OMIM:608093
HP:0001371	Flexion contracture	85365	ALG2	ORPHA:353327
HP:0001371	Flexion contracture	199857	ALG14	ORPHA:353327
HP:0001371	Flexion contracture	6595	SMARCA2	OMIM:619293
HP:0001371	Flexion contracture	54332	GDAP1	OMIM:607706
HP:0001371	Flexion contracture	54332	GDAP1	ORPHA:101097
HP:0001371	Flexion contracture	1146	CHRNG	OMIM:265000
HP:0001371	Flexion contracture	1146	CHRNG	OMIM:253290
HP:0001371	Flexion contracture	23250	ATP11A	OMIM:619851
HP:0001371	Flexion contracture	7345	UCHL1	OMIM:615491
HP:0001371	Flexion contracture	274	BIN1	OMIM:255200
HP:0001371	Flexion contracture	9469	CHST3	OMIM:143095
HP:0001371	Flexion contracture	9469	CHST3	ORPHA:263463
HP:0001371	Flexion contracture	50814	NSDHL	OMIM:308050
HP:0001371	Flexion contracture	1889	ECE1	OMIM:613870
HP:0001371	Flexion contracture	3423	IDS	ORPHA:217085
HP:0001371	Flexion contracture	3423	IDS	OMIM:309900
HP:0001371	Flexion contracture	3423	IDS	ORPHA:217093
HP:0001371	Flexion contracture	9326	ZNHIT3	ORPHA:2836
HP:0001371	Flexion contracture	55157	DARS2	ORPHA:137898
HP:0001371	Flexion contracture	55157	DARS2	OMIM:611105
HP:0001371	Flexion contracture	4604	MYBPC1	OMIM:618524
HP:0001371	Flexion contracture	4604	MYBPC1	OMIM:614915
HP:0001371	Flexion contracture	8560	DEGS1	OMIM:618404
HP:0001371	Flexion contracture	6445	SGCG	OMIM:253700
HP:0001371	Flexion contracture	8398	PLA2G6	ORPHA:35069
HP:0001371	Flexion contracture	546	ATRX	ORPHA:847
HP:0001371	Flexion contracture	5191	PEX7	OMIM:215100
HP:0001371	Flexion contracture	3339	HSPG2	ORPHA:1865
HP:0001371	Flexion contracture	259232	NALCN	ORPHA:562528
HP:0001371	Flexion contracture	3848	KRT1	ORPHA:79503
HP:0001371	Flexion contracture	56984	PSMG2	OMIM:619183
HP:0001371	Flexion contracture	9839	ZEB2	ORPHA:261552
HP:0001371	Flexion contracture	9839	ZEB2	ORPHA:261537
HP:0001371	Flexion contracture	8726	EED	OMIM:617561
HP:0001371	Flexion contracture	57190	SELENON	ORPHA:2020
HP:0001371	Flexion contracture	57190	SELENON	OMIM:602771
HP:0001371	Flexion contracture	4633	MYL2	ORPHA:2020
HP:0001371	Flexion contracture	3679	ITGA7	ORPHA:2020
HP:0001371	Flexion contracture	9200	HACD1	ORPHA:2020
HP:0001371	Flexion contracture	51776	MAP3K20	ORPHA:2020
HP:0001371	Flexion contracture	22872	SEC31A	OMIM:618651
HP:0001371	Flexion contracture	833	CARS1	OMIM:618891
HP:0001371	Flexion contracture	84314	TMEM107	OMIM:617562
HP:0001371	Flexion contracture	10682	EBP	ORPHA:35173
HP:0001371	Flexion contracture	1641	DCX	ORPHA:2148
HP:0001371	Flexion contracture	28514	DLL1	ORPHA:93926
HP:0001371	Flexion contracture	28514	DLL1	ORPHA:93924
HP:0001371	Flexion contracture	28514	DLL1	ORPHA:93925
HP:0001371	Flexion contracture	28514	DLL1	ORPHA:220386
HP:0001371	Flexion contracture	2253	FGF8	ORPHA:93926
HP:0001371	Flexion contracture	2253	FGF8	ORPHA:93924
HP:0001371	Flexion contracture	2253	FGF8	ORPHA:93925
HP:0001371	Flexion contracture	2253	FGF8	ORPHA:220386
HP:0001371	Flexion contracture	6496	SIX3	ORPHA:93926
HP:0001371	Flexion contracture	6496	SIX3	ORPHA:93924
HP:0001371	Flexion contracture	6496	SIX3	ORPHA:93925
HP:0001371	Flexion contracture	6496	SIX3	ORPHA:220386
HP:0001371	Flexion contracture	7050	TGIF1	ORPHA:93926
HP:0001371	Flexion contracture	7050	TGIF1	ORPHA:93924
HP:0001371	Flexion contracture	7050	TGIF1	ORPHA:93925
HP:0001371	Flexion contracture	7050	TGIF1	ORPHA:220386
HP:0001371	Flexion contracture	4838	NODAL	ORPHA:93926
HP:0001371	Flexion contracture	4838	NODAL	ORPHA:93924
HP:0001371	Flexion contracture	4838	NODAL	ORPHA:93925
HP:0001371	Flexion contracture	4838	NODAL	ORPHA:220386
HP:0001371	Flexion contracture	6469	SHH	ORPHA:93926
HP:0001371	Flexion contracture	6469	SHH	ORPHA:93924
HP:0001371	Flexion contracture	6469	SHH	ORPHA:93925
HP:0001371	Flexion contracture	6469	SHH	ORPHA:220386
HP:0001371	Flexion contracture	7546	ZIC2	ORPHA:93926
HP:0001371	Flexion contracture	7546	ZIC2	ORPHA:93924
HP:0001371	Flexion contracture	7546	ZIC2	ORPHA:93925
HP:0001371	Flexion contracture	7546	ZIC2	ORPHA:220386
HP:0001371	Flexion contracture	6491	STIL	ORPHA:93926
HP:0001371	Flexion contracture	6491	STIL	ORPHA:93924
HP:0001371	Flexion contracture	6491	STIL	ORPHA:93925
HP:0001371	Flexion contracture	6491	STIL	ORPHA:220386
HP:0001371	Flexion contracture	2619	GAS1	ORPHA:93926
HP:0001371	Flexion contracture	2619	GAS1	ORPHA:93924
HP:0001371	Flexion contracture	2619	GAS1	ORPHA:93925
HP:0001371	Flexion contracture	2619	GAS1	ORPHA:220386
HP:0001371	Flexion contracture	84976	DISP1	ORPHA:93926
HP:0001371	Flexion contracture	84976	DISP1	ORPHA:93924
HP:0001371	Flexion contracture	84976	DISP1	ORPHA:93925
HP:0001371	Flexion contracture	84976	DISP1	ORPHA:220386
HP:0001371	Flexion contracture	2736	GLI2	ORPHA:93926
HP:0001371	Flexion contracture	2736	GLI2	ORPHA:93924
HP:0001371	Flexion contracture	2736	GLI2	ORPHA:93925
HP:0001371	Flexion contracture	2736	GLI2	ORPHA:220386
HP:0001371	Flexion contracture	8928	FOXH1	ORPHA:93926
HP:0001371	Flexion contracture	8928	FOXH1	ORPHA:93924
HP:0001371	Flexion contracture	8928	FOXH1	ORPHA:93925
HP:0001371	Flexion contracture	8928	FOXH1	ORPHA:220386
HP:0001371	Flexion contracture	6997	CRIPTO	ORPHA:93926
HP:0001371	Flexion contracture	6997	CRIPTO	ORPHA:93924
HP:0001371	Flexion contracture	6997	CRIPTO	ORPHA:93925
HP:0001371	Flexion contracture	6997	CRIPTO	ORPHA:220386
HP:0001371	Flexion contracture	5727	PTCH1	ORPHA:93926
HP:0001371	Flexion contracture	5727	PTCH1	ORPHA:93924
HP:0001371	Flexion contracture	5727	PTCH1	ORPHA:93925
HP:0001371	Flexion contracture	5727	PTCH1	ORPHA:220386
HP:0001371	Flexion contracture	50937	CDON	ORPHA:93926
HP:0001371	Flexion contracture	50937	CDON	ORPHA:93924
HP:0001371	Flexion contracture	50937	CDON	ORPHA:93925
HP:0001371	Flexion contracture	50937	CDON	ORPHA:220386
HP:0001371	Flexion contracture	2783	GNB2	OMIM:619503
HP:0001371	Flexion contracture	4632	MYL1	OMIM:618414
HP:0001371	Flexion contracture	2260	FGFR1	ORPHA:93924
HP:0001371	Flexion contracture	2260	FGFR1	ORPHA:220386
HP:0001371	Flexion contracture	2752	GLUL	OMIM:610015
HP:0001371	Flexion contracture	23007	PLCH1	ORPHA:93925
HP:0001371	Flexion contracture	10735	STAG2	ORPHA:93925
HP:0001371	Flexion contracture	10735	STAG2	ORPHA:220386
HP:0001371	Flexion contracture	3782	KCNN3	OMIM:618658
HP:0001371	Flexion contracture	3425	IDUA	OMIM:607014
HP:0001371	Flexion contracture	5373	PMM2	OMIM:212065
HP:0001371	Flexion contracture	23299	BICD2	ORPHA:363454
HP:0001371	Flexion contracture	23299	BICD2	OMIM:618291
HP:0001371	Flexion contracture	10585	POMT1	OMIM:609308
HP:0001371	Flexion contracture	10585	POMT1	OMIM:613155
HP:0001371	Flexion contracture	11285	B4GALT7	OMIM:130070
HP:0001371	Flexion contracture	11285	B4GALT7	ORPHA:75496
HP:0001371	Flexion contracture	10717	AP4B1	OMIM:614066
HP:0001371	Flexion contracture	149371	EXOC8	OMIM:619076
HP:0001371	Flexion contracture	11154	AP4S1	OMIM:614067
HP:0001371	Flexion contracture	2629	GBA1	ORPHA:85212
HP:0001371	Flexion contracture	2629	GBA1	ORPHA:77260
HP:0001371	Flexion contracture	51633	OTUD6B	OMIM:617452
HP:0001371	Flexion contracture	55699	IARS2	OMIM:616007
HP:0001371	Flexion contracture	9289	ADGRG1	ORPHA:98889
HP:0001371	Flexion contracture	5297	PI4KA	ORPHA:98889
HP:0001371	Flexion contracture	27286	SRPX2	ORPHA:98889
HP:0001371	Flexion contracture	11128	POLR3A	OMIM:264090
HP:0001371	Flexion contracture	64837	KLC2	OMIM:609541
HP:0001371	Flexion contracture	26137	ZBTB20	OMIM:259050
HP:0001371	Flexion contracture	26137	ZBTB20	ORPHA:3042
HP:0001371	Flexion contracture	64419	MTMR14	OMIM:160150
HP:0001371	Flexion contracture	57152	SLURP1	ORPHA:87503
HP:0001371	Flexion contracture	27086	FOXP1	ORPHA:391372
HP:0001371	Flexion contracture	773	CACNA1A	OMIM:617106
HP:0001371	Flexion contracture	163175	LGI4	OMIM:617468
HP:0001371	Flexion contracture	6506	SLC1A2	OMIM:617105
HP:0001371	Flexion contracture	388015	RTL1	ORPHA:96334
HP:0001371	Flexion contracture	388015	RTL1	ORPHA:254528
HP:0001371	Flexion contracture	8788	DLK1	ORPHA:96334
HP:0001371	Flexion contracture	8788	DLK1	ORPHA:254528
HP:0001371	Flexion contracture	55384	MEG3	ORPHA:96334
HP:0001371	Flexion contracture	55384	MEG3	ORPHA:254528
HP:0001371	Flexion contracture	2006	ELN	OMIM:194050
HP:0001371	Flexion contracture	51085	MLXIPL	OMIM:194050
HP:0001371	Flexion contracture	487	ATP2A1	OMIM:601003
HP:0001371	Flexion contracture	427	ASAH1	ORPHA:2590
HP:0001371	Flexion contracture	427	ASAH1	ORPHA:333
HP:0001371	Flexion contracture	4677	NARS1	OMIM:619091
HP:0001371	Flexion contracture	8242	KDM5C	OMIM:300534
HP:0001371	Flexion contracture	22906	TRAK1	OMIM:618201
HP:0001371	Flexion contracture	55612	FERMT1	ORPHA:2908
HP:0001371	Flexion contracture	6843	VAMP1	OMIM:618323
HP:0001371	Flexion contracture	81031	SLC2A10	OMIM:208050
HP:0001371	Flexion contracture	5692	PSMB4	OMIM:617591
HP:0001371	Flexion contracture	339855	KY	OMIM:617114
HP:0001371	Flexion contracture	3977	LIFR	ORPHA:3206
HP:0001371	Flexion contracture	51227	PIGP	OMIM:617599
HP:0001371	Flexion contracture	55275	VPS53	OMIM:615851
HP:0001371	Flexion contracture	84665	MYPN	ORPHA:171439
HP:0001371	Flexion contracture	390594	KBTBD13	ORPHA:171439
HP:0001371	Flexion contracture	55681	SCYL2	ORPHA:1143
HP:0001371	Flexion contracture	84570	COL25A1	ORPHA:1143
HP:0001371	Flexion contracture	57222	ERGIC1	ORPHA:1143
HP:0001371	Flexion contracture	79158	GNPTAB	ORPHA:423461
HP:0001371	Flexion contracture	10195	ALG3	OMIM:601110
HP:0001371	Flexion contracture	6567	SLC16A2	ORPHA:59
HP:0001371	Flexion contracture	6567	SLC16A2	OMIM:300523
HP:0001371	Flexion contracture	91252	SLC39A13	ORPHA:157965
HP:0001371	Flexion contracture	171023	ASXL1	OMIM:605039
HP:0001371	Flexion contracture	1387	CREBBP	OMIM:618332
HP:0001371	Flexion contracture	1387	CREBBP	OMIM:180849
HP:0001371	Flexion contracture	81570	CLPB	OMIM:616271
HP:0001371	Flexion contracture	54101	RIPK4	OMIM:263650
HP:0001371	Flexion contracture	667	DST	OMIM:614653
HP:0001371	Flexion contracture	3329	HSPD1	OMIM:612233
HP:0001371	Flexion contracture	1134	CHRNA1	OMIM:253290
HP:0001371	Flexion contracture	1144	CHRND	OMIM:253290
HP:0001371	Flexion contracture	284119	CAVIN1	OMIM:613327
HP:0001371	Flexion contracture	55770	EXOC2	OMIM:619306
HP:0001371	Flexion contracture	5277	PIGA	OMIM:301072
HP:0001371	Flexion contracture	5277	PIGA	OMIM:300868
HP:0001371	Flexion contracture	8905	AP1S2	OMIM:304340
HP:0001371	Flexion contracture	9927	MFN2	ORPHA:99947
HP:0001371	Flexion contracture	9927	MFN2	OMIM:609260
HP:0001371	Flexion contracture	4001	LMNB1	ORPHA:99027
HP:0001371	Flexion contracture	389827	MYMK	OMIM:254940
HP:0001371	Flexion contracture	23592	LEMD3	OMIM:166700
HP:0001371	Flexion contracture	56052	ALG1	OMIM:608540
HP:0001371	Flexion contracture	2201	FBN2	ORPHA:115
HP:0001371	Flexion contracture	10075	HUWE1	OMIM:309590
HP:0001371	Flexion contracture	7051	TGM1	OMIM:242300
HP:0001371	Flexion contracture	9663	LPIN2	OMIM:609628
HP:0001371	Flexion contracture	9663	LPIN2	ORPHA:77297
HP:0001371	Flexion contracture	84706	GPT2	OMIM:616281
HP:0001371	Flexion contracture	55906	ZC4H2	OMIM:301041
HP:0001371	Flexion contracture	23111	SPART	OMIM:275900
HP:0001371	Flexion contracture	10785	WDR4	OMIM:618346
HP:0001371	Flexion contracture	112	ADCY6	OMIM:616287
HP:0001371	Flexion contracture	579	NKX3-2	OMIM:613330
HP:0001371	Flexion contracture	2632	GBE1	OMIM:232500
HP:0001371	Flexion contracture	100151683	RNU4ATAC	OMIM:210710
HP:0001371	Flexion contracture	4621	MYH3	OMIM:618469
HP:0001371	Flexion contracture	1756	DMD	OMIM:310200
HP:0001371	Flexion contracture	1756	DMD	ORPHA:98896
HP:0001371	Flexion contracture	9526	MPDU1	OMIM:609180
HP:0001371	Flexion contracture	203547	VMA21	OMIM:310440
HP:0001371	Flexion contracture	4747	NEFL	OMIM:607684
HP:0001371	Flexion contracture	2200	FBN1	ORPHA:284979
HP:0001371	Flexion contracture	2200	FBN1	OMIM:154700
HP:0001371	Flexion contracture	256297	PTF1A	OMIM:609069
HP:0001371	Flexion contracture	411	ARSB	OMIM:253200
HP:0001371	Flexion contracture	6442	SGCA	OMIM:608099
HP:0001371	Flexion contracture	10049	DNAJB6	OMIM:603511
HP:0001371	Flexion contracture	11160	ERLIN2	ORPHA:209951
HP:0001371	Flexion contracture	1302	COL11A2	OMIM:215150
HP:0001371	Flexion contracture	59341	TRPV4	OMIM:156530
HP:0001371	Flexion contracture	59341	TRPV4	OMIM:168400
HP:0001371	Flexion contracture	79868	ALG13	OMIM:300884
HP:0001371	Flexion contracture	6651	SON	OMIM:617140
HP:0001371	Flexion contracture	63895	PIEZO2	OMIM:617146
HP:0001371	Flexion contracture	8882	ZPR1	OMIM:619321
HP:0001371	Flexion contracture	10229	COQ7	OMIM:616733
HP:0001371	Flexion contracture	1836	SLC26A2	ORPHA:93307
HP:0001371	Flexion contracture	2263	FGFR2	OMIM:207410
HP:0001371	Flexion contracture	112939	NACC1	ORPHA:500545
HP:0001371	Flexion contracture	29078	NDUFAF4	OMIM:618237
HP:0001371	Flexion contracture	5831	PYCR1	OMIM:614438
HP:0001371	Flexion contracture	5010	CLDN11	OMIM:619328
HP:0001371	Flexion contracture	51010	EXOSC3	OMIM:614678
HP:0001371	Flexion contracture	23729	SHPK	ORPHA:440713
HP:0001371	Flexion contracture	4204	MECP2	OMIM:300055
HP:0001371	Flexion contracture	3039	HBA1	ORPHA:98791
HP:0001371	Flexion contracture	3040	HBA2	ORPHA:98791
HP:0001371	Flexion contracture	10940	POP1	OMIM:617396
HP:0001371	Flexion contracture	4998	ORC1	OMIM:224690
HP:0001371	Flexion contracture	23345	SYNE1	OMIM:618484
HP:0001371	Flexion contracture	11253	MAN1B1	OMIM:614202
HP:0001371	Flexion contracture	2316	FLNA	ORPHA:88630
HP:0001371	Flexion contracture	2072	ERCC4	OMIM:278760
HP:0001371	Flexion contracture	6331	SCN5A	ORPHA:1344
HP:0001371	Flexion contracture	4878	NPPA	ORPHA:1344
HP:0001371	Flexion contracture	1280	COL2A1	OMIM:609162
HP:0001371	Flexion contracture	54551	MAGEL2	ORPHA:398069
HP:0001371	Flexion contracture	54551	MAGEL2	OMIM:615547
HP:0001371	Flexion contracture	64856	VWA1	OMIM:619216
HP:0001371	Flexion contracture	7965	AIMP2	OMIM:618006
HP:0001371	Flexion contracture	91137	SLC25A46	OMIM:616505
HP:0001371	Flexion contracture	51008	ASCC1	OMIM:616867
HP:0001371	Flexion contracture	57211	ADGRG6	OMIM:616503
HP:0001371	Flexion contracture	29920	PYCR2	ORPHA:481152
HP:0001371	Flexion contracture	9325	TRIP4	OMIM:616866
HP:0001371	Flexion contracture	9361	LONP1	ORPHA:79243
HP:0001371	Flexion contracture	5160	PDHA1	ORPHA:79243
HP:0001371	Flexion contracture	91647	ATPAF2	OMIM:604273
HP:0001371	Flexion contracture	6329	SCN4A	ORPHA:682
HP:0001371	Flexion contracture	6329	SCN4A	OMIM:620369
HP:0001371	Flexion contracture	2068	ERCC2	OMIM:601675
HP:0001371	Flexion contracture	6390	SDHB	OMIM:619224
HP:0001371	Flexion contracture	11342	RNF13	OMIM:618379
HP:0001371	Flexion contracture	11342	RNF13	ORPHA:544503
HP:0001371	Flexion contracture	7317	UBA1	OMIM:301830
HP:0001371	Flexion contracture	8802	SUCLG1	ORPHA:17
HP:0001371	Flexion contracture	79796	ALG9	OMIM:263210
HP:0001371	Flexion contracture	84896	ATAD1	OMIM:618011
HP:0001371	Flexion contracture	128637	TBC1D20	OMIM:615663
HP:0001371	Flexion contracture	25939	SAMHD1	OMIM:612952
HP:0001371	Flexion contracture	6874	TAF4	OMIM:620450
HP:0001371	Flexion contracture	8425	LTBP4	ORPHA:98896
HP:0001371	Flexion contracture	8200	GDF5	OMIM:200700
HP:0001371	Flexion contracture	10269	ZMPSTE24	OMIM:608612
HP:0001371	Flexion contracture	10269	ZMPSTE24	OMIM:275210
HP:0001371	Flexion contracture	7874	USP7	ORPHA:500055
HP:0001371	Flexion contracture	5913	RAPSN	OMIM:618388
HP:0001371	Flexion contracture	9851	KIAA0753	OMIM:619479
HP:0001371	Flexion contracture	35	ACADS	OMIM:201470
HP:0001371	Flexion contracture	2033	EP300	OMIM:180849
HP:0001371	Flexion contracture	2517	FUCA1	OMIM:230000
HP:0001371	Flexion contracture	25782	RAB3GAP2	OMIM:614225
HP:0001371	Flexion contracture	1861	TOR1A	OMIM:618947
HP:0001371	Flexion contracture	22931	RAB18	OMIM:614222
HP:0001371	Flexion contracture	998	CDC42	ORPHA:487796
HP:0001371	Flexion contracture	9968	MED12	OMIM:309520
HP:0001371	Flexion contracture	4534	MTM1	OMIM:310400
HP:0001371	Flexion contracture	54880	BCOR	OMIM:300166
HP:0001371	Flexion contracture	2571	GAD1	OMIM:619124
HP:0001371	Flexion contracture	10651	MTX2	OMIM:619127
HP:0001371	Flexion contracture	162514	TRPV3	OMIM:614594
HP:0001371	Flexion contracture	84340	GFM2	OMIM:618397
HP:0001371	Flexion contracture	202018	TAPT1	OMIM:616897
HP:0001371	Flexion contracture	2273	FHL1	OMIM:300718
HP:0001371	Flexion contracture	2273	FHL1	OMIM:300717
HP:0001371	Flexion contracture	60386	SLC25A19	OMIM:607196
HP:0001371	Flexion contracture	126792	B3GALT6	OMIM:271640
HP:0001371	Flexion contracture	342035	GLDN	OMIM:617194
HP:0001371	Flexion contracture	2176	FANCC	OMIM:227645
HP:0001371	Flexion contracture	9215	LARGE1	OMIM:613154
HP:0001371	Flexion contracture	5538	PPT1	OMIM:256730
HP:0001371	Flexion contracture	29954	POMT2	OMIM:613156
HP:0001371	Flexion contracture	2990	GUSB	OMIM:253220
HP:0001371	Flexion contracture	8243	SMC1A	ORPHA:220386
HP:0001371	Flexion contracture	8815	BANF1	OMIM:614008
HP:0001371	Flexion contracture	84700	MYO18B	OMIM:616549
HP:0001371	Flexion contracture	6261	RYR1	ORPHA:98905
HP:0001371	Flexion contracture	5354	PLP1	OMIM:312920
HP:0001371	Flexion contracture	84081	NSRP1	OMIM:620001
HP:0001371	Flexion contracture	6389	SDHA	OMIM:252011
HP:0001371	Flexion contracture	23529	CLCF1	ORPHA:1545
HP:0001371	Flexion contracture	9244	CRLF1	ORPHA:1545
HP:0001371	Flexion contracture	2801	GOLGA2	OMIM:620240
HP:0001371	Flexion contracture	224	ALDH3A2	OMIM:270200
HP:0001371	Flexion contracture	129285	PPP1R21	OMIM:619383
HP:0001371	Flexion contracture	84842	HPDL	OMIM:619026
HP:0001371	Flexion contracture	118429	ANTXR2	OMIM:228600
HP:0001371	Flexion contracture	22978	NT5C2	OMIM:613162
HP:0001371	Flexion contracture	221692	PHACTR1	OMIM:618298
HP:0001371	Flexion contracture	1140	CHRNB1	OMIM:616313
HP:0001371	Flexion contracture	547	KIF1A	OMIM:614255
HP:0001371	Flexion contracture	1235	CCR6	ORPHA:220393
HP:0001371	Flexion contracture	1490	CCN2	ORPHA:220393
HP:0001371	Flexion contracture	3663	IRF5	ORPHA:220393
HP:0001371	Flexion contracture	857	CAV1	ORPHA:220393
HP:0001371	Flexion contracture	3123	HLA-DRB1	ORPHA:220393
HP:0001371	Flexion contracture	3767	KCNJ11	OMIM:618856
HP:0001371	Flexion contracture	170302	ARX	OMIM:309510
HP:0001371	Flexion contracture	5696	PSMB8	OMIM:256040
HP:0001371	Flexion contracture	246329	STAC3	OMIM:255995
HP:0001371	Flexion contracture	9990	SLC12A6	OMIM:218000
HP:0001371	Flexion contracture	6786	STIM1	OMIM:160565
HP:0001371	Flexion contracture	203859	ANO5	ORPHA:206549
HP:0001371	Flexion contracture	79912	PYROXD1	OMIM:617258
HP:0001371	Flexion contracture	10060	ABCC9	OMIM:619719
HP:0001371	Flexion contracture	2799	GNS	OMIM:252940
HP:0001371	Flexion contracture	54888	NSUN2	OMIM:611091
HP:0001371	Flexion contracture	6709	SPTAN1	OMIM:620528
HP:0001371	Flexion contracture	4141	MARS1	OMIM:620323
HP:0001371	Flexion contracture	291	SLC25A4	OMIM:615418
HP:0001371	Flexion contracture	11145	PLAAT3	OMIM:620683
HP:0001371	Flexion contracture	4556	MT-TE	ORPHA:2596
HP:0001371	Flexion contracture	2705	GJB1	OMIM:302800
HP:0001371	Flexion contracture	26090	ABHD12	OMIM:612674
HP:0001371	Flexion contracture	729920	CRPPA	ORPHA:370980
HP:0001371	Flexion contracture	3265	HRAS	OMIM:218040
HP:0001371	Flexion contracture	1832	DSP	ORPHA:158687
HP:0001371	Flexion contracture	3728	JUP	ORPHA:158687
HP:0001371	Flexion contracture	84295	PHF6	ORPHA:127
HP:0001371	Flexion contracture	777	CACNA1E	OMIM:618285
HP:0001371	Flexion contracture	100128927	ZBTB42	OMIM:616248
HP:0001371	Flexion contracture	283989	TSEN54	OMIM:277470
HP:0001371	Flexion contracture	283989	TSEN54	OMIM:225753
HP:0001371	Flexion contracture	4620	MYH2	OMIM:605637
HP:0001371	Flexion contracture	9496	TBX4	ORPHA:261279
HP:0001371	Flexion contracture	8818	DPM2	OMIM:615042
HP:0001371	Flexion contracture	26053	AUTS2	ORPHA:352490
HP:0001371	Flexion contracture	5081	PAX7	OMIM:618578
HP:0001371	Flexion contracture	7443	VRK1	OMIM:607596
HP:0001371	Flexion contracture	26153	KIF26A	OMIM:620156
HP:0001371	Flexion contracture	6263	RYR3	OMIM:620310
HP:0001371	Flexion contracture	79147	FKRP	OMIM:236670
HP:0001371	Flexion contracture	1718	DHCR24	OMIM:602398
HP:0001371	Flexion contracture	1145	CHRNE	OMIM:608931
HP:0001371	Flexion contracture	91754	NEK9	OMIM:614262
HP:0001371	Flexion contracture	55627	SMPD4	OMIM:618622
HP:0001371	Flexion contracture	55593	OTUD5	OMIM:301056
HP:0001371	Flexion contracture	60482	SLC5A7	OMIM:617143
HP:0001371	Flexion contracture	60482	SLC5A7	ORPHA:98914
HP:0001371	Flexion contracture	2073	ERCC5	OMIM:616570
HP:0001371	Flexion contracture	2073	ERCC5	ORPHA:1466
HP:0001371	Flexion contracture	84162	BLTP1	OMIM:617822
HP:0001371	Flexion contracture	6774	STAT3	ORPHA:99885
HP:0001371	Flexion contracture	2645	GCK	ORPHA:99885
HP:0001371	Flexion contracture	3651	PDX1	ORPHA:99885
HP:0001371	Flexion contracture	6833	ABCC8	ORPHA:99885
HP:0001371	Flexion contracture	3630	INS	ORPHA:99885
HP:0001371	Flexion contracture	2733	GLE1	OMIM:253310
HP:0001371	Flexion contracture	2733	GLE1	OMIM:611890
HP:0001371	Flexion contracture	56975	FAM20C	OMIM:259775
HP:0001371	Flexion contracture	6904	TBCD	ORPHA:496641
HP:0001371	Flexion contracture	6904	TBCD	OMIM:617193
HP:0001371	Flexion contracture	5980	REV3L	ORPHA:570
HP:0001371	Flexion contracture	23129	PLXND1	ORPHA:570
HP:0001371	Flexion contracture	63925	ZNF335	OMIM:615095
HP:0001371	Flexion contracture	1020	CDK5	OMIM:616342
HP:0001371	Flexion contracture	113189	CHST14	ORPHA:2953
HP:0001371	Flexion contracture	113189	CHST14	OMIM:601776
HP:0001371	Flexion contracture	29940	DSE	ORPHA:2953
HP:0001371	Flexion contracture	5119	CHMP1A	OMIM:614961
HP:0001371	Flexion contracture	91869	RFT1	ORPHA:244310
HP:0001371	Flexion contracture	6663	SOX10	ORPHA:163746
HP:0001371	Flexion contracture	6663	SOX10	OMIM:609136
HP:0001371	Flexion contracture	7136	TNNI2	OMIM:601680
HP:0001371	Flexion contracture	26276	VPS33B	OMIM:208085
HP:0001371	Flexion contracture	57498	KIDINS220	OMIM:619501
HP:0001371	Flexion contracture	63894	VIPAS39	OMIM:613404
HP:0001371	Flexion contracture	2065	ERBB3	OMIM:243180
HP:0001371	Flexion contracture	2065	ERBB3	OMIM:607598
HP:0001371	Flexion contracture	23265	EXOC7	OMIM:619072
HP:0001371	Flexion contracture	1182	CLCN3	OMIM:619512
HP:0001371	Flexion contracture	5530	PPP3CA	OMIM:618265
HP:0001371	Flexion contracture	1103	CHAT	OMIM:254210
HP:0001371	Flexion contracture	1103	CHAT	ORPHA:98914
HP:0001371	Flexion contracture	23443	SLC35A3	OMIM:615553
HP:0001371	Flexion contracture	11340	EXOSC8	ORPHA:2254
HP:0001371	Flexion contracture	23287	AGTPBP1	ORPHA:2254
HP:0001371	Flexion contracture	60681	FKBP10	ORPHA:2771
HP:0001371	Flexion contracture	55165	CEP55	OMIM:236500
HP:0001371	Flexion contracture	3800	KIF5C	OMIM:615282
HP:0001371	Flexion contracture	23522	KAT6B	ORPHA:85201
HP:0001371	Flexion contracture	9928	KIF14	OMIM:616258
HP:0001371	Flexion contracture	4649	MYO9A	ORPHA:98914
HP:0001371	Flexion contracture	1305	COL13A1	ORPHA:98914
HP:0001371	Flexion contracture	6576	SLC25A1	ORPHA:98914
HP:0001371	Flexion contracture	375790	AGRN	ORPHA:98914
HP:0001371	Flexion contracture	127833	SYT2	ORPHA:98914
HP:0001371	Flexion contracture	6616	SNAP25	ORPHA:98914
HP:0001371	Flexion contracture	3911	LAMA5	OMIM:620076
HP:0001371	Flexion contracture	4626	MYH8	OMIM:158300
HP:0001371	Flexion contracture	9319	TRIP13	OMIM:617598
HP:0001371	Flexion contracture	200205	IBA57	OMIM:615330
HP:0001371	Flexion contracture	91574	MTRFR	ORPHA:320375
HP:0001371	Flexion contracture	8216	LZTR1	OMIM:605275
HP:0001371	Flexion contracture	55605	KIF21A	ORPHA:994
HP:0001371	Flexion contracture	4927	NUP88	ORPHA:994
HP:0001371	Flexion contracture	7846	TUBA1A	ORPHA:994
HP:0001371	Flexion contracture	4654	MYOD1	ORPHA:994
HP:0001371	Flexion contracture	6572	SLC18A3	ORPHA:994
HP:0001371	Flexion contracture	285489	DOK7	ORPHA:994
HP:0001371	Flexion contracture	4625	MYH7	ORPHA:324604
HP:0001371	Flexion contracture	7273	TTN	ORPHA:324604
HP:0001371	Flexion contracture	55131	RBM28	ORPHA:157954
HP:0001371	Flexion contracture	23769	FLRT1	ORPHA:320406
HP:0001371	Flexion contracture	27238	GPKOW	ORPHA:2570
HP:0001371	Flexion contracture	94005	PIGS	OMIM:618143
HP:0001371	Flexion contracture	1763	DNA2	ORPHA:352470
HP:0001371	Flexion contracture	23396	PIP5K1C	OMIM:611369
HP:0001371	Flexion contracture	9499	MYOT	ORPHA:98911
HP:0001371	Flexion contracture	54820	NDE1	OMIM:605013
HP:0001371	Flexion contracture	3417	IDH1	ORPHA:99646
HP:0001371	Flexion contracture	5981	RFC1	ORPHA:504476
HP:0001371	Flexion contracture	404672	GTF2H5	ORPHA:33364
HP:0001371	Flexion contracture	7737	RNF113A	ORPHA:33364
HP:0001371	Flexion contracture	136647	MPLKIP	ORPHA:33364
HP:0001371	Flexion contracture	6897	TARS1	ORPHA:33364
HP:0001371	Flexion contracture	16	AARS1	ORPHA:33364
HP:0001371	Flexion contracture	2071	ERCC3	ORPHA:33364
HP:0001371	Flexion contracture	2961	GTF2E2	ORPHA:33364
HP:0001371	Flexion contracture	6509	SLC1A4	ORPHA:447997
HP:0001371	Flexion contracture	10535	RNASEH2A	ORPHA:51
HP:0001371	Flexion contracture	84153	RNASEH2C	ORPHA:51
HP:0001371	Flexion contracture	79621	RNASEH2B	ORPHA:51
HP:0001371	Flexion contracture	103	ADAR	ORPHA:51
HP:0001371	Flexion contracture	11277	TREX1	ORPHA:51
HP:0001371	Flexion contracture	100147744	RNU7-1	ORPHA:51
HP:0001371	Flexion contracture	134353	LSM11	ORPHA:51
HP:0001371	Flexion contracture	64135	IFIH1	ORPHA:51
HP:0001371	Flexion contracture	23516	SLC39A14	ORPHA:521406
HP:0001371	Flexion contracture	2137	EXTL3	ORPHA:508533
HP:0001371	Flexion contracture	83932	SPRTN	OMIM:616200
HP:0001371	Flexion contracture	5351	PLOD1	ORPHA:1900
HP:0001371	Flexion contracture	7020	TFAP2A	OMIM:113620
HP:0001371	Flexion contracture	8985	PLOD3	OMIM:612394
HP:0001371	Flexion contracture	545	ATR	OMIM:210600
HP:0001371	Flexion contracture	84065	TMEM222	OMIM:619470
HP:0001371	Flexion contracture	3835	KIF22	ORPHA:93360
HP:0001371	Flexion contracture	6628	SNRPB	OMIM:117650
HP:0001371	Flexion contracture	340419	RSPO2	OMIM:618022
HP:0001371	Flexion contracture	5286	PIK3C2A	OMIM:618440
HP:0001371	Flexion contracture	23219	FBXO28	OMIM:619777
HP:0001371	Flexion contracture	7476	WNT7A	OMIM:276820
HP:0001371	Flexion contracture	5832	ALDH18A1	ORPHA:447757
HP:0001371	Flexion contracture	26229	B3GAT3	OMIM:245600
HP:0001371	Flexion contracture	4976	OPA1	OMIM:210000
HP:0001371	Flexion contracture	215	ABCD1	ORPHA:139396
HP:0001371	Flexion contracture	29968	PSAT1	ORPHA:284417
HP:0001371	Flexion contracture	51102	MECR	OMIM:617282
HP:0001371	Flexion contracture	3074	HEXB	ORPHA:309162
HP:0001371	Flexion contracture	57679	ALS2	OMIM:205100
HP:0001371	Flexion contracture	2902	GRIN1	OMIM:619814
HP:0001371	Flexion contracture	7355	SLC35A2	ORPHA:356961
HP:0001371	Flexion contracture	2157	F8	ORPHA:169802
HP:0001371	Flexion contracture	400569	MED11	OMIM:620327
HP:0001371	Flexion contracture	51091	SEPSECS	OMIM:613811
HP:0001371	Flexion contracture	819	CAMLG	OMIM:620201
HP:0001371	Flexion contracture	55768	NGLY1	ORPHA:404454
HP:0001371	Flexion contracture	10073	SNUPN	OMIM:620793
HP:0001371	Flexion contracture	1308	COL17A1	ORPHA:251393
HP:0001371	Flexion contracture	9653	HS2ST1	OMIM:619194
HP:0001371	Flexion contracture	10290	SPEG	ORPHA:169186
HP:0001371	Flexion contracture	10290	SPEG	OMIM:615959
HP:0001371	Flexion contracture	29895	MYL11	OMIM:619110
HP:0001371	Flexion contracture	9894	TELO2	ORPHA:488642
HP:0001371	Flexion contracture	285175	UNC80	OMIM:616801
HP:0001371	Flexion contracture	285175	UNC80	ORPHA:371364
HP:0001371	Flexion contracture	7138	TNNT1	OMIM:620386
HP:0001371	Flexion contracture	7138	TNNT1	ORPHA:98902
HP:0001371	Flexion contracture	7138	TNNT1	OMIM:605355
HP:0001371	Flexion contracture	84992	PIGY	OMIM:616809
HP:0001371	Flexion contracture	2617	GARS1	OMIM:619042
HP:0001371	Flexion contracture	4773	NFATC2	OMIM:620232
HP:0001371	Flexion contracture	87178	PNPT1	ORPHA:319514
HP:0001371	Flexion contracture	5745	PTH1R	OMIM:156400
HP:0001371	Flexion contracture	84068	SLC10A7	OMIM:618363
HP:0001371	Flexion contracture	4313	MMP2	OMIM:259600
HP:0001371	Flexion contracture	54681	P4HTM	OMIM:618493
HP:0001371	Flexion contracture	6023	RMRP	OMIM:607095
HP:0001371	Flexion contracture	2010	EMD	OMIM:310300
HP:0001371	Flexion contracture	2010	EMD	ORPHA:98863
HP:0001371	Flexion contracture	79188	TMEM43	ORPHA:98853
HP:0001371	Flexion contracture	23224	SYNE2	ORPHA:98853
HP:0001371	Flexion contracture	55628	ZNF407	OMIM:619557
HP:0001371	Flexion contracture	84265	POLR3GL	OMIM:619234
HP:0001371	Flexion contracture	80204	FBXO11	OMIM:618089
HP:0001371	Flexion contracture	3798	KIF5A	ORPHA:100991
HP:0001371	Flexion contracture	2737	GLI3	ORPHA:672
HP:0001371	Flexion contracture	7528	YY1	ORPHA:506358
HP:0001371	Flexion contracture	7528	YY1	OMIM:617557
HP:0001371	Flexion contracture	34	ACADM	ORPHA:42
HP:0001371	Flexion contracture	57003	CCDC47	OMIM:618268
HP:0001371	Flexion contracture	4897	NRCAM	OMIM:619833
HP:0001371	Flexion contracture	51117	COQ4	OMIM:616276
HP:0001371	Flexion contracture	9896	FIG4	OMIM:611228
HP:0001371	Flexion contracture	65055	REEP1	OMIM:620011
HP:0001371	Flexion contracture	2521	FUS	ORPHA:300605
HP:0001371	Flexion contracture	80208	SPG11	ORPHA:300605
HP:0001371	Flexion contracture	10280	SIGMAR1	ORPHA:300605
HP:0001371	Flexion contracture	10558	SPTLC1	ORPHA:300605
HP:0001371	Flexion contracture	80232	WDR26	ORPHA:513456
HP:0001371	Flexion contracture	6134	RPL10	ORPHA:459070
HP:0001371	Flexion contracture	9373	PLAA	ORPHA:521426
HP:0001371	Flexion contracture	9373	PLAA	OMIM:617527
HP:0001371	Flexion contracture	1193	CLIC2	ORPHA:324410
HP:0001371	Flexion contracture	5830	PEX5	OMIM:616716
HP:0001371	Flexion contracture	139285	AMER1	OMIM:300373
HP:0001371	Flexion contracture	55315	SLC29A3	OMIM:602782
HP:0001371	Flexion contracture	23556	PIGN	ORPHA:280633
HP:0001371	Flexion contracture	64127	NOD2	OMIM:186580
HP:0001371	Flexion contracture	23102	TBC1D2B	OMIM:619323
HP:0001371	Flexion contracture	9150	CTDP1	ORPHA:48431
HP:0001371	Flexion contracture	1984	EIF5A	OMIM:619376
HP:0001371	Flexion contracture	2643	GCH1	ORPHA:98808
HP:0001371	Flexion contracture	4929	NR4A2	ORPHA:98808
HP:0001371	Flexion contracture	3615	IMPDH2	ORPHA:98808
HP:0001371	Flexion contracture	6857	SYT1	ORPHA:522077
HP:0001371	Flexion contracture	157570	ESCO2	ORPHA:3103
HP:0001371	Flexion contracture	10216	PRG4	OMIM:208250
HP:0001371	Flexion contracture	113179	ADAT3	ORPHA:363528
HP:0001371	Flexion contracture	7043	TGFB3	OMIM:615582
HP:0001371	Flexion contracture	51305	KCNK9	ORPHA:166108
HP:0001371	Flexion contracture	22880	MORC2	ORPHA:466768
HP:0001371	Flexion contracture	170689	ADAMTS15	OMIM:620545
HP:0001371	Flexion contracture	4921	DDR2	OMIM:271665
HP:0001371	Flexion contracture	23141	ANKLE2	OMIM:616681
HP:0001371	Flexion contracture	6840	SVIL	OMIM:619040
HP:0001371	Flexion contracture	3714	JAG2	OMIM:619566
HP:0001371	Flexion contracture	51506	UFC1	OMIM:618076
HP:0001371	Flexion contracture	23321	TRIM2	OMIM:615490
HP:0001371	Flexion contracture	23327	NEDD4L	OMIM:617201
HP:0001371	Flexion contracture	79644	SRD5A3	OMIM:612713
HP:0001371	Flexion contracture	6811	STX5	OMIM:620454
HP:0001371	Flexion contracture	9531	BAG3	OMIM:612954
HP:0001371	Flexion contracture	9051	PSTPIP1	OMIM:604416
HP:0001371	Flexion contracture	10804	GJB6	ORPHA:477
HP:0001371	Flexion contracture	2706	GJB2	ORPHA:477
HP:0001371	Flexion contracture	2706	GJB2	OMIM:148210
HP:0001371	Flexion contracture	9791	PTDSS1	OMIM:151050
HP:0001371	Flexion contracture	10613	ERLIN1	ORPHA:401785
HP:0001371	Flexion contracture	2222	FDFT1	OMIM:618156
HP:0001371	Flexion contracture	83636	C19orf12	OMIM:615043
HP:0001371	Flexion contracture	1376	CPT2	OMIM:608836
HP:0001371	Flexion contracture	5296	PIK3R2	OMIM:603387
HP:0001371	Flexion contracture	23387	SIK3	OMIM:618162
HP:0001371	Flexion contracture	6392	SDHD	ORPHA:3208
HP:0001371	Flexion contracture	644096	SDHAF1	ORPHA:3208
HP:0001371	Flexion contracture	64116	SLC39A8	ORPHA:468699
HP:0001371	Flexion contracture	8449	DHX16	OMIM:618733
HP:0001371	Flexion contracture	1859	DYRK1A	ORPHA:464311
HP:0001371	Flexion contracture	1605	DAG1	OMIM:613818
HP:0001371	Flexion contracture	1605	DAG1	ORPHA:280333
HP:0001371	Flexion contracture	55958	KLHL9	ORPHA:399081
HP:0001371	Flexion contracture	84876	ORAI1	OMIM:615883
HP:0001371	Flexion contracture	210	ALAD	ORPHA:100924
HP:0001371	Flexion contracture	513	ATP5F1D	OMIM:618120
HP:0001371	Flexion contracture	497661	C18orf32	OMIM:619985
HP:0001371	Flexion contracture	7407	VARS1	OMIM:617802
HP:0001371	Flexion contracture	2972	BRF1	ORPHA:444072
HP:0001371	Flexion contracture	23259	DDHD2	ORPHA:320380
HP:0001371	Flexion contracture	54828	BCAS3	OMIM:619641
HP:0001371	Flexion contracture	51651	PTRH2	ORPHA:456312
HP:0001371	Flexion contracture	79932	KIAA0319L	ORPHA:220402
HP:0001371	Flexion contracture	219854	TMEM218	OMIM:619562
HP:0001371	Flexion contracture	23291	FBXW11	OMIM:618914
HP:0001371	Flexion contracture	9757	KMT2B	OMIM:619934
HP:0001371	Flexion contracture	3720	JARID2	OMIM:620098
HP:0001371	Flexion contracture	10765	KDM5B	OMIM:618109
HP:0001371	Flexion contracture	10093	ARPC4	OMIM:620141
HP:0001371	Flexion contracture	25942	SIN3A	OMIM:613406
HP:0001371	Flexion contracture	11011	TLK2	OMIM:618050
HP:0001371	Flexion contracture	6909	TBX2	OMIM:618223
HP:0001371	Flexion contracture	90459	ERI1	OMIM:620662
HP:0001371	Flexion contracture	80816	ASXL3	OMIM:615485
HP:0001371	Flexion contracture	81857	MED25	ORPHA:464738
HP:0001371	Flexion contracture	1277	COL1A1	OMIM:130060
HP:0001371	Flexion contracture	10466	COG5	ORPHA:263487
HP:0001371	Flexion contracture	9231	DLG5	OMIM:620703
HP:0001371	Flexion contracture	4952	OCRL	OMIM:309000
HP:0001371	Flexion contracture	7390	UROS	OMIM:263700
HP:0001371	Flexion contracture	5077	PAX3	OMIM:148820
HP:0001371	Flexion contracture	57449	PLEKHG5	OMIM:611067
HP:0001371	Flexion contracture	3178	HNRNPA1	OMIM:610099
HP:0001371	Flexion contracture	5376	PMP22	ORPHA:90658
HP:0001371	Flexion contracture	6662	SOX9	OMIM:114290
HP:0001371	Flexion contracture	4297	KMT2A	OMIM:605130
HP:0001371	Flexion contracture	10262	SF3B4	OMIM:154400
HP:0001371	Flexion contracture	3008	H1-4	OMIM:617537
HP:0001371	Flexion contracture	84942	WDR73	OMIM:251300
HP:0001371	Flexion contracture	1855	DVL1	OMIM:616331
HP:0001371	Flexion contracture	2261	FGFR3	OMIM:610474
HP:0001371	Flexion contracture	9382	COG1	OMIM:611209
HP:0001371	Flexion contracture	57231	SNX14	ORPHA:397709
HP:0001371	Flexion contracture	57231	SNX14	OMIM:616354
HP:0001371	Flexion contracture	7125	TNNC2	OMIM:620161
HP:0001371	Flexion contracture	56992	KIF15	ORPHA:261323
HP:0001371	Flexion contracture	57589	RIC1	OMIM:618761
HP:0001371	Flexion contracture	64359	NXN	OMIM:618529
HP:0001371	Flexion contracture	1301	COL11A1	OMIM:228520
HP:0001371	Flexion contracture	80776	B9D2	OMIM:614175
HP:0001371	Flexion contracture	1954	MEGF8	OMIM:614976
HP:0001371	Flexion contracture	23314	SATB2	OMIM:612313
HP:0001371	Flexion contracture	8642	DCHS1	OMIM:601390
HP:0001371	Flexion contracture	8642	DCHS1	ORPHA:314679
HP:0001371	Flexion contracture	79053	ALG8	OMIM:608104
HP:0001371	Flexion contracture	79053	ALG8	ORPHA:79325
HP:0001371	Flexion contracture	26227	PHGDH	OMIM:256520
HP:0001371	Flexion contracture	57167	SALL4	ORPHA:233
HP:0001371	Flexion contracture	9935	MAFB	ORPHA:233
HP:0001371	Flexion contracture	1123	CHN1	ORPHA:233
HP:0001371	Flexion contracture	3572	IL6ST	OMIM:619751
HP:0001371	Flexion contracture	8260	NAA10	OMIM:309800
HP:0001371	Flexion contracture	23512	SUZ12	OMIM:618786
HP:0001371	Flexion contracture	7862	BRPF1	OMIM:617333
HP:0001371	Flexion contracture	1001	CDH3	OMIM:225280
HP:0001371	Flexion contracture	79633	FAT4	OMIM:616006
HP:0001371	Flexion contracture	79633	FAT4	ORPHA:314679
HP:0001371	Flexion contracture	5828	PEX2	OMIM:614866
HP:0001371	Flexion contracture	79228	THOC6	ORPHA:363444
HP:0001371	Flexion contracture	4094	MAF	ORPHA:1272
HP:0001371	Flexion contracture	4094	MAF	OMIM:601088
HP:0001371	Flexion contracture	4089	SMAD4	OMIM:139210
HP:0001371	Flexion contracture	8838	CCN6	ORPHA:1159
HP:0001371	Flexion contracture	7140	TNNT3	OMIM:618435
HP:0001371	Flexion contracture	3239	HOXD13	OMIM:610713
HP:0001371	Flexion contracture	11107	PRDM5	ORPHA:90354
HP:0001371	Flexion contracture	84627	ZNF469	ORPHA:90354
HP:0001371	Flexion contracture	8626	TP63	OMIM:603543
HP:0001371	Flexion contracture	4920	ROR2	OMIM:268310
HP:0001371	Flexion contracture	4920	ROR2	OMIM:113000
HP:0001371	Flexion contracture	8813	DPM1	OMIM:608799
HP:0001371	Flexion contracture	8813	DPM1	ORPHA:79322
HP:0001371	Flexion contracture	23483	TGDS	OMIM:616145
HP:0001371	Flexion contracture	4088	SMAD3	OMIM:613795
HP:0001371	Flexion contracture	25836	NIPBL	OMIM:122470
HP:0001371	Flexion contracture	4087	SMAD2	OMIM:619656
HP:0001371	Flexion contracture	2146	EZH2	OMIM:277590
HP:0001371	Flexion contracture	4733	DRG1	OMIM:620641
HP:0001371	Flexion contracture	147372	CCBE1	OMIM:235510
HP:0001371	Flexion contracture	79087	ALG12	ORPHA:79324
HP:0001371	Flexion contracture	257	ALX3	OMIM:136760
HP:0001371	Flexion contracture	26100	WIPI2	OMIM:618453
HP:0001371	Flexion contracture	8621	CDK13	OMIM:617360
HP:0001371	Flexion contracture	9427	ECEL1	OMIM:615065
HP:0001371	Flexion contracture	22930	RAB3GAP1	OMIM:619420
HP:0001371	Flexion contracture	2703	GJA8	OMIM:612474
HP:0001371	Flexion contracture	2702	GJA5	OMIM:612474
HP:0001371	Flexion contracture	7046	TGFBR1	OMIM:609192
HP:0001371	Flexion contracture	10664	CTCF	OMIM:615502
HP:0001371	Flexion contracture	27145	FILIP1	OMIM:620775
HP:0001371	Flexion contracture	1801	DPH1	ORPHA:459061
HP:0001371	Flexion contracture	1802	DPH2	ORPHA:459061
HP:0001371	Flexion contracture	81848	SPRY4	ORPHA:432
HP:0001371	Flexion contracture	128674	PROKR2	ORPHA:432
HP:0001371	Flexion contracture	60675	PROK2	ORPHA:432
HP:0001371	Flexion contracture	55636	CHD7	ORPHA:432
HP:0001371	Flexion contracture	6870	TACR3	ORPHA:432
HP:0001371	Flexion contracture	1848	DUSP6	ORPHA:432
HP:0001371	Flexion contracture	26012	NSMF	ORPHA:432
HP:0001371	Flexion contracture	55717	WDR11	ORPHA:432
HP:0001371	Flexion contracture	4808	NHLH2	ORPHA:432
HP:0001371	Flexion contracture	9394	HS6ST1	ORPHA:432
HP:0001371	Flexion contracture	2796	GNRH1	ORPHA:432
HP:0001371	Flexion contracture	2798	GNRHR	ORPHA:432
HP:0001371	Flexion contracture	84634	KISS1R	ORPHA:432
HP:0001371	Flexion contracture	6866	TAC3	ORPHA:432
HP:0001371	Flexion contracture	8822	FGF17	ORPHA:432
HP:0001371	Flexion contracture	3814	KISS1	ORPHA:432
HP:0001371	Flexion contracture	2245	FGD1	OMIM:305400
HP:0001371	Flexion contracture	1281	COL3A1	OMIM:618343
HP:0001371	Flexion contracture	9158	FIBP	ORPHA:500095
HP:0001371	Flexion contracture	6885	MAP3K7	OMIM:617137
HP:0001371	Flexion contracture	91179	SCARF2	OMIM:600920
HP:0001371	Flexion contracture	117581	TWIST2	OMIM:200110
HP:0001371	Flexion contracture	54808	DYM	OMIM:223800
HP:0001371	Flexion contracture	2239	GPC4	OMIM:301026
HP:0001371	Flexion contracture	28982	FLVCR1	ORPHA:88628
HP:0001371	Flexion contracture	28982	FLVCR1	OMIM:609033
HP:0001371	Flexion contracture	56915	EXOSC5	OMIM:619576
HP:0001371	Flexion contracture	92255	LMBRD2	OMIM:619694
HP:0001371	Flexion contracture	23511	NUP188	OMIM:618804
HP:0001371	Flexion contracture	92344	GORAB	OMIM:231070
HP:0001371	Flexion contracture	23389	MED13L	ORPHA:369891
HP:0001371	Flexion contracture	727857	BHLHA9	OMIM:607539
HP:0001371	Flexion contracture	10943	MSL3	OMIM:301032
HP:0001371	Flexion contracture	633	BGN	OMIM:300989
HP:0001371	Flexion contracture	84342	COG8	OMIM:611182
HP:0001371	Flexion contracture	79576	NKAP	OMIM:301039
HP:0001371	Flexion contracture	25	ABL1	OMIM:617602
HP:0001371	Flexion contracture	5000	ORC4	OMIM:613800
HP:0001371	Flexion contracture	3930	LBR	OMIM:618019
HP:0001371	Flexion contracture	55644	OSGEP	OMIM:617729
HP:0001371	Flexion contracture	26040	SETBP1	ORPHA:798
HP:0001371	Flexion contracture	6611	SMS	ORPHA:3063
HP:0001371	Flexion contracture	55975	KLHL7	OMIM:617055
HP:0001371	Flexion contracture	285590	SH3PXD2B	OMIM:249420
HP:0001371	Flexion contracture	51715	RAB23	OMIM:201000
HP:0001371	Flexion contracture	1857	DVL3	OMIM:616894
HP:0001371	Flexion contracture	83737	ITCH	OMIM:613385
HP:0001371	Flexion contracture	83737	ITCH	ORPHA:228426
HP:0001371	Flexion contracture	28952	CCDC22	OMIM:300963
HP:0001371	Flexion contracture	90416	CCDC32	OMIM:619123
HP:0001371	Flexion contracture	6497	SKI	OMIM:182212
HP:0001371	Flexion contracture	10084	PQBP1	OMIM:309500
HP:0001371	Flexion contracture	9487	PIGL	OMIM:280000
HP:0001371	Flexion contracture	3868	KRT16	ORPHA:2199
HP:0001371	Flexion contracture	3857	KRT9	ORPHA:2199
HP:0001371	Flexion contracture	6913	TBX15	OMIM:260660
HP:0001371	Flexion contracture	2036	EPB41L1	OMIM:614257
HP:0001371	Flexion contracture	523	ATP6V1A	OMIM:617403
HP:0001371	Flexion contracture	529	ATP6V1E1	OMIM:617402
HP:0001371	Flexion contracture	4233	MET	OMIM:620019
HP:0001371	Flexion contracture	26123	TCTN3	OMIM:614815
HP:0001371	Flexion contracture	3861	KRT14	ORPHA:69087
HP:0001371	Flexion contracture	5159	PDGFRB	OMIM:601812
HP:0001371	Flexion contracture	64065	PERP	OMIM:619208
HP:0001371	Flexion contracture	56916	SMARCAD1	OMIM:129200
HP:0001371	Flexion contracture	1272	CNTN1	OMIM:612540
HP:0001371	Flexion contracture	64423	INF2	OMIM:614455
HP:0001371	Flexion contracture	10397	NDRG1	OMIM:601455
HP:0001371	Flexion contracture	3315	HSPB1	OMIM:606595
HP:0001371	Flexion contracture	8566	PDXK	OMIM:618511
HP:0001371	Flexion contracture	3098	HK1	OMIM:605285
HP:0001371	Flexion contracture	3481	IGF2	OMIM:616489
HP:0001371	Flexion contracture	84466	MEGF10	OMIM:620249
HP:0001371	Flexion contracture	122622	ADSS1	ORPHA:482601
HP:0001371	Flexion contracture	57038	RARS2	OMIM:611523
HP:0001371	Flexion contracture	1353	COX11	OMIM:620275
HP:0001371	Flexion contracture	84572	GNPTG	OMIM:252605
HP:0001371	Flexion contracture	57282	SLC4A10	OMIM:620746
HP:0001371	Flexion contracture	57731	SPTBN4	OMIM:617519
HP:0001371	Flexion contracture	3181	HNRNPA2B1	OMIM:620460
HP:0001371	Flexion contracture	9898	UBAP2L	OMIM:620494
HP:0001371	Flexion contracture	5528	PPP2R5D	ORPHA:457279
HP:0001371	Flexion contracture	8294	H4C9	OMIM:619951
HP:0001371	Flexion contracture	1947	EFNB1	ORPHA:1520
HP:0001371	Flexion contracture	9241	NOG	ORPHA:3250
HP:0001371	Flexion contracture	613	BCR	ORPHA:261330
HP:0001371	Flexion contracture	1399	CRKL	ORPHA:261330
HP:0001371	Flexion contracture	5594	MAPK1	ORPHA:261330
HP:0001371	Flexion contracture	72	ACTG2	ORPHA:2604
HP:0001371	Flexion contracture	3508	IGHMBP2	OMIM:604320
HP:0001371	Flexion contracture	6926	TBX3	ORPHA:3138
HP:0001371	Flexion contracture	51360	MBTPS2	ORPHA:2273
HP:0001371	Flexion contracture	2697	GJA1	ORPHA:2710
HP:0001371	Flexion contracture	2697	GJA1	ORPHA:93404
HP:0001371	Flexion contracture	6999	TDO2	OMIM:600627
HP:0001371	Flexion contracture	10716	TBR1	ORPHA:1617
HP:0001371	Flexion contracture	56006	SMG9	OMIM:616920
HP:0001371	Flexion contracture	7474	WNT5A	ORPHA:3107
HP:0001371	Flexion contracture	2535	FZD2	ORPHA:3107
HP:0001371	Flexion contracture	9508	ADAMTS3	ORPHA:2136
HP:0001371	Flexion contracture	5189	PEX1	ORPHA:3220
HP:0001371	Flexion contracture	5190	PEX6	ORPHA:3220
HP:0001371	Flexion contracture	5590	PRKCZ	ORPHA:1606
HP:0001371	Flexion contracture	2563	GABRD	ORPHA:1606
HP:0001371	Flexion contracture	23013	SPEN	ORPHA:1606
HP:0001371	Flexion contracture	8510	MMP23B	ORPHA:1606
HP:0001371	Flexion contracture	7798	LUZP1	ORPHA:1606
HP:0001371	Flexion contracture	10630	PDPN	ORPHA:1606
HP:0001371	Flexion contracture	10277	UBE4B	ORPHA:1606
HP:0001371	Flexion contracture	8514	KCNAB2	ORPHA:1606
HP:0001371	Flexion contracture	473	RERE	ORPHA:1606
HP:0001371	Flexion contracture	63976	PRDM16	ORPHA:1606
HP:0001371	Flexion contracture	54897	CASZ1	ORPHA:1606
HP:0001371	Flexion contracture	8517	IKBKG	ORPHA:464
HP:0001371	Flexion contracture	10436	EMG1	ORPHA:1270
HP:0001371	Flexion contracture	57492	ARID1B	ORPHA:251056
HP:0001371	Flexion contracture	2719	GPC3	ORPHA:373
HP:0001371	Flexion contracture	1723	DHODH	ORPHA:246
HP:0001371	Flexion contracture	54903	MKS1	OMIM:249000
HP:0001371	Flexion contracture	10526	IPO8	ORPHA:60030
HP:0001371	Flexion contracture	7042	TGFB2	ORPHA:60030
HP:0001371	Flexion contracture	3897	L1CAM	ORPHA:2466
HP:0001371	Flexion contracture	7227	TRPS1	ORPHA:77258
HP:0001371	Flexion contracture	51114	ZDHHC9	ORPHA:776
HP:0001371	Flexion contracture	65109	UPF3B	ORPHA:776
HP:0001371	Flexion contracture	114548	NLRP3	ORPHA:575
HP:0001371	Flexion contracture	134701	RIPPLY2	ORPHA:2311
HP:0001371	Flexion contracture	10683	DLL3	ORPHA:2311
HP:0001371	Flexion contracture	3955	LFNG	ORPHA:2311
HP:0001371	Flexion contracture	84667	HES7	ORPHA:2311
HP:0001371	Flexion contracture	145873	MESP2	ORPHA:2311
HP:0001371	Flexion contracture	81620	CDT1	ORPHA:2554
HP:0001371	Flexion contracture	23594	ORC6	ORPHA:2554
HP:0001371	Flexion contracture	8318	CDC45	ORPHA:2554
HP:0001371	Flexion contracture	990	CDC6	ORPHA:2554
HP:0001371	Flexion contracture	51053	GMNN	ORPHA:2554
HP:0001371	Flexion contracture	64327	LMBR1	ORPHA:93405
HP:0001371	Flexion contracture	3914	LAMB3	OMIM:226650
HP:0001371	Flexion contracture	8092	ALX1	ORPHA:306542
HP:0001371	Flexion contracture	64840	PORCN	ORPHA:2092
HP:0001371	Flexion contracture	8450	CUL4B	ORPHA:85293
HP:0001371	Flexion contracture	26092	TOR1AIP1	OMIM:617072
HP:0001371	Flexion contracture	64131	XYLT1	ORPHA:1425
HP:0001371	Flexion contracture	124583	CANT1	ORPHA:1425
HP:0001371	Flexion contracture	55790	CSGALNACT1	ORPHA:1425
HP:0001371	Flexion contracture	79693	YRDC	ORPHA:2065
HP:0001371	Flexion contracture	51002	TPRKB	ORPHA:2065
HP:0001371	Flexion contracture	57122	NUP107	ORPHA:2065
HP:0001371	Flexion contracture	55746	NUP133	ORPHA:2065
HP:0001371	Flexion contracture	84520	GON7	ORPHA:2065
HP:0001371	Flexion contracture	112858	TP53RK	ORPHA:2065
HP:0001371	Flexion contracture	8270	LAGE3	ORPHA:2065
HP:0005659	Thoracic kyphoscoliosis	6660	SOX5	ORPHA:313892
HP:0005659	Thoracic kyphoscoliosis	7703	PCGF2	OMIM:618371
HP:0005659	Thoracic kyphoscoliosis	83932	SPRTN	OMIM:616200
HP:0005659	Thoracic kyphoscoliosis	579	NKX3-2	OMIM:613330
HP:0005659	Thoracic kyphoscoliosis	83737	ITCH	OMIM:613385
HP:0005659	Thoracic kyphoscoliosis	1674	DES	ORPHA:98909
HP:0005659	Thoracic kyphoscoliosis	4000	LMNA	ORPHA:1662
HP:0005659	Thoracic kyphoscoliosis	10269	ZMPSTE24	ORPHA:1662
HP:0005659	Thoracic kyphoscoliosis	55699	IARS2	ORPHA:436174
HP:0005659	Thoracic kyphoscoliosis	57211	ADGRG6	OMIM:616503
HP:0005659	Thoracic kyphoscoliosis	29920	PYCR2	ORPHA:481152
HP:0005659	Thoracic kyphoscoliosis	6329	SCN4A	ORPHA:98913
HP:0005659	Thoracic kyphoscoliosis	1134	CHRNA1	ORPHA:98913
HP:0005659	Thoracic kyphoscoliosis	4038	LRP4	ORPHA:98913
HP:0005659	Thoracic kyphoscoliosis	1305	COL13A1	ORPHA:98913
HP:0005659	Thoracic kyphoscoliosis	1140	CHRNB1	ORPHA:98913
HP:0005659	Thoracic kyphoscoliosis	1144	CHRND	ORPHA:98913
HP:0005659	Thoracic kyphoscoliosis	1145	CHRNE	ORPHA:98913
HP:0005659	Thoracic kyphoscoliosis	4593	MUSK	ORPHA:98913
HP:0005659	Thoracic kyphoscoliosis	5913	RAPSN	ORPHA:98913
HP:0005659	Thoracic kyphoscoliosis	375790	AGRN	ORPHA:98913
HP:0005659	Thoracic kyphoscoliosis	221264	AK9	ORPHA:98913
HP:0005659	Thoracic kyphoscoliosis	285489	DOK7	ORPHA:98913
HP:0005659	Thoracic kyphoscoliosis	5351	PLOD1	ORPHA:1900
HP:0006118	Shortening of all distal phalanges of the fingers	84295	PHF6	OMIM:301900
HP:0006118	Shortening of all distal phalanges of the fingers	84992	PIGY	ORPHA:247262
HP:0006118	Shortening of all distal phalanges of the fingers	84992	PIGY	OMIM:616809
HP:0006118	Shortening of all distal phalanges of the fingers	84720	PIGO	ORPHA:247262
HP:0006118	Shortening of all distal phalanges of the fingers	84720	PIGO	OMIM:614749
HP:0006118	Shortening of all distal phalanges of the fingers	93210	PGAP3	ORPHA:247262
HP:0006118	Shortening of all distal phalanges of the fingers	93210	PGAP3	OMIM:615716
HP:0006118	Shortening of all distal phalanges of the fingers	284098	PIGW	ORPHA:247262
HP:0006118	Shortening of all distal phalanges of the fingers	27315	PGAP2	ORPHA:247262
HP:0006118	Shortening of all distal phalanges of the fingers	27315	PGAP2	OMIM:614207
HP:0006118	Shortening of all distal phalanges of the fingers	55650	PIGV	ORPHA:247262
HP:0006118	Shortening of all distal phalanges of the fingers	9487	PIGL	ORPHA:247262
HP:0006118	Shortening of all distal phalanges of the fingers	57020	VPS35L	OMIM:619135
HP:0006118	Shortening of all distal phalanges of the fingers	4256	MGP	OMIM:245150
HP:0006118	Shortening of all distal phalanges of the fingers	2972	BRF1	OMIM:616202
HP:0006118	Shortening of all distal phalanges of the fingers	29929	ALG6	ORPHA:79320
HP:0006118	Shortening of all distal phalanges of the fingers	2737	GLI3	OMIM:146510
HP:0006118	Shortening of all distal phalanges of the fingers	5447	POR	ORPHA:95699
HP:0005678	Anterior atlanto-occipital dislocation	126792	B3GALT6	ORPHA:536467
HP:0001770	Toe syndactyly	2737	GLI3	ORPHA:672
HP:0001770	Toe syndactyly	2737	GLI3	ORPHA:380
HP:0001770	Toe syndactyly	2737	GLI3	OMIM:146510
HP:0001770	Toe syndactyly	341640	FREM2	ORPHA:2052
HP:0001770	Toe syndactyly	80144	FRAS1	ORPHA:2052
HP:0001770	Toe syndactyly	23426	GRIP1	ORPHA:2052
HP:0001770	Toe syndactyly	10262	SF3B4	OMIM:154400
HP:0001770	Toe syndactyly	6309	SC5D	ORPHA:46059
HP:0001770	Toe syndactyly	9759	HDAC4	ORPHA:1001
HP:0001770	Toe syndactyly	145173	B3GLCT	ORPHA:709
HP:0001770	Toe syndactyly	8626	TP63	OMIM:604292
HP:0001770	Toe syndactyly	8626	TP63	OMIM:103285
HP:0001770	Toe syndactyly	8626	TP63	ORPHA:978
HP:0001770	Toe syndactyly	8626	TP63	ORPHA:69085
HP:0001770	Toe syndactyly	8626	TP63	ORPHA:1896
HP:0001770	Toe syndactyly	9241	NOG	OMIM:184460
HP:0001770	Toe syndactyly	55869	HDAC8	OMIM:300882
HP:0001770	Toe syndactyly	55869	HDAC8	ORPHA:199
HP:0001770	Toe syndactyly	117581	TWIST2	OMIM:200110
HP:0001770	Toe syndactyly	117581	TWIST2	ORPHA:920
HP:0001770	Toe syndactyly	374654	KIF7	OMIM:200990
HP:0001770	Toe syndactyly	3020	H3-3A	OMIM:619720
HP:0001770	Toe syndactyly	613	BCR	ORPHA:261330
HP:0001770	Toe syndactyly	1399	CRKL	ORPHA:261330
HP:0001770	Toe syndactyly	5594	MAPK1	ORPHA:261330
HP:0001770	Toe syndactyly	9790	BMS1	ORPHA:1114
HP:0001770	Toe syndactyly	5339	PLEC	ORPHA:1114
HP:0001770	Toe syndactyly	10054	UBA2	ORPHA:1114
HP:0001770	Toe syndactyly	3691	ITGB4	ORPHA:1114
HP:0001770	Toe syndactyly	54567	DLL4	ORPHA:1114
HP:0001770	Toe syndactyly	54101	RIPK4	ORPHA:1234
HP:0001770	Toe syndactyly	2314	FLII	ORPHA:819
HP:0001770	Toe syndactyly	23096	IQSEC2	ORPHA:819
HP:0001770	Toe syndactyly	23096	IQSEC2	ORPHA:217377
HP:0001770	Toe syndactyly	10743	RAI1	ORPHA:819
HP:0001770	Toe syndactyly	10522	DEAF1	ORPHA:819
HP:0001770	Toe syndactyly	5818	NECTIN1	ORPHA:3253
HP:0001770	Toe syndactyly	10225	CD96	OMIM:211750
HP:0001770	Toe syndactyly	10225	CD96	ORPHA:1308
HP:0001770	Toe syndactyly	4038	LRP4	ORPHA:3258
HP:0001770	Toe syndactyly	324	APC	ORPHA:3258
HP:0001770	Toe syndactyly	9126	SMC3	OMIM:610759
HP:0001770	Toe syndactyly	9126	SMC3	ORPHA:199
HP:0001770	Toe syndactyly	2263	FGFR2	ORPHA:87
HP:0001770	Toe syndactyly	2263	FGFR2	ORPHA:93260
HP:0001770	Toe syndactyly	2263	FGFR2	ORPHA:93258
HP:0001770	Toe syndactyly	2263	FGFR2	ORPHA:93259
HP:0001770	Toe syndactyly	2263	FGFR2	OMIM:101400
HP:0001770	Toe syndactyly	2263	FGFR2	ORPHA:168624
HP:0001770	Toe syndactyly	2263	FGFR2	ORPHA:2363
HP:0001770	Toe syndactyly	2263	FGFR2	ORPHA:1540
HP:0001770	Toe syndactyly	7480	WNT10B	OMIM:225300
HP:0001770	Toe syndactyly	7476	WNT7A	OMIM:228930
HP:0001770	Toe syndactyly	9698	PUM1	OMIM:620719
HP:0001770	Toe syndactyly	80204	FBXO11	OMIM:618089
HP:0001770	Toe syndactyly	7021	TFAP2B	ORPHA:46627
HP:0001770	Toe syndactyly	2019	EN1	OMIM:619218
HP:0001770	Toe syndactyly	64359	NXN	ORPHA:1507
HP:0001770	Toe syndactyly	4920	ROR2	ORPHA:1507
HP:0001770	Toe syndactyly	672	BRCA1	ORPHA:84
HP:0001770	Toe syndactyly	10459	MAD2L2	ORPHA:84
HP:0001770	Toe syndactyly	7516	XRCC2	ORPHA:84
HP:0001770	Toe syndactyly	29089	UBE2T	ORPHA:84
HP:0001770	Toe syndactyly	675	BRCA2	ORPHA:84
HP:0001770	Toe syndactyly	55120	FANCL	ORPHA:84
HP:0001770	Toe syndactyly	2177	FANCD2	ORPHA:84
HP:0001770	Toe syndactyly	2175	FANCA	ORPHA:84
HP:0001770	Toe syndactyly	2187	FANCB	ORPHA:84
HP:0001770	Toe syndactyly	2176	FANCC	ORPHA:84
HP:0001770	Toe syndactyly	2178	FANCE	ORPHA:84
HP:0001770	Toe syndactyly	2188	FANCF	ORPHA:84
HP:0001770	Toe syndactyly	2189	FANCG	ORPHA:84
HP:0001770	Toe syndactyly	5888	RAD51	ORPHA:84
HP:0001770	Toe syndactyly	5889	RAD51C	ORPHA:84
HP:0001770	Toe syndactyly	55159	RFWD3	ORPHA:84
HP:0001770	Toe syndactyly	83990	BRIP1	ORPHA:84
HP:0001770	Toe syndactyly	57697	FANCM	ORPHA:84
HP:0001770	Toe syndactyly	79728	PALB2	ORPHA:84
HP:0001770	Toe syndactyly	84464	SLX4	ORPHA:84
HP:0001770	Toe syndactyly	2072	ERCC4	ORPHA:84
HP:0001770	Toe syndactyly	55215	FANCI	ORPHA:84
HP:0001770	Toe syndactyly	3759	KCNJ2	OMIM:170390
HP:0001770	Toe syndactyly	157570	ESCO2	ORPHA:2319
HP:0001770	Toe syndactyly	2260	FGFR1	ORPHA:93258
HP:0001770	Toe syndactyly	64093	SMOC1	ORPHA:1106
HP:0001770	Toe syndactyly	64093	SMOC1	OMIM:206920
HP:0001770	Toe syndactyly	2697	GJA1	ORPHA:2710
HP:0001770	Toe syndactyly	2697	GJA1	OMIM:186100
HP:0001770	Toe syndactyly	727857	BHLHA9	ORPHA:157801
HP:0001770	Toe syndactyly	652	BMP4	OMIM:607932
HP:0001770	Toe syndactyly	64327	LMBR1	ORPHA:93405
HP:0001770	Toe syndactyly	64327	LMBR1	ORPHA:2378
HP:0001770	Toe syndactyly	6469	SHH	ORPHA:93405
HP:0001770	Toe syndactyly	7291	TWIST1	OMIM:101400
HP:0001770	Toe syndactyly	3239	HOXD13	ORPHA:93409
HP:0001770	Toe syndactyly	2192	FBLN1	OMIM:608180
HP:0001770	Toe syndactyly	57167	SALL4	ORPHA:959
HP:0001770	Toe syndactyly	51715	RAB23	ORPHA:65759
HP:0001770	Toe syndactyly	51715	RAB23	OMIM:201000
HP:0001770	Toe syndactyly	1954	MEGF8	ORPHA:65759
HP:0001770	Toe syndactyly	25942	SIN3A	OMIM:613406
HP:0001770	Toe syndactyly	4929	NR4A2	ORPHA:1617
HP:0001770	Toe syndactyly	10716	TBR1	ORPHA:1617
HP:0001770	Toe syndactyly	2313	FLI1	ORPHA:2308
HP:0001770	Toe syndactyly	26227	PHGDH	OMIM:256520
HP:0001770	Toe syndactyly	23476	BRD4	ORPHA:199
HP:0001770	Toe syndactyly	8243	SMC1A	ORPHA:199
HP:0001770	Toe syndactyly	6878	TAF6	ORPHA:199
HP:0001770	Toe syndactyly	25836	NIPBL	ORPHA:199
HP:0001770	Toe syndactyly	25836	NIPBL	OMIM:122470
HP:0001770	Toe syndactyly	5885	RAD21	ORPHA:199
HP:0001770	Toe syndactyly	9851	KIAA0753	ORPHA:474
HP:0001770	Toe syndactyly	55112	DYNC2I1	ORPHA:474
HP:0001770	Toe syndactyly	26160	IFT172	ORPHA:474
HP:0001770	Toe syndactyly	153241	CEP120	ORPHA:474
HP:0001770	Toe syndactyly	57560	IFT80	ORPHA:474
HP:0001770	Toe syndactyly	51626	DYNC2LI1	ORPHA:474
HP:0001770	Toe syndactyly	79659	DYNC2H1	ORPHA:474
HP:0001770	Toe syndactyly	9742	IFT140	ORPHA:474
HP:0001770	Toe syndactyly	57728	WDR19	ORPHA:474
HP:0001770	Toe syndactyly	89891	DYNC2I2	ORPHA:474
HP:0001770	Toe syndactyly	79809	TTC21B	ORPHA:474
HP:0001770	Toe syndactyly	3981	LIG4	ORPHA:235
HP:0001770	Toe syndactyly	54888	NSUN2	ORPHA:235
HP:0001770	Toe syndactyly	64840	PORCN	OMIM:305600
HP:0001770	Toe syndactyly	64840	PORCN	ORPHA:2092
HP:0001770	Toe syndactyly	1947	EFNB1	OMIM:304110
HP:0001770	Toe syndactyly	4613	MYCN	ORPHA:391641
HP:0001770	Toe syndactyly	4613	MYCN	OMIM:620748
HP:0001770	Toe syndactyly	84265	POLR3GL	OMIM:619234
HP:0001770	Toe syndactyly	65250	CPLANE1	OMIM:277170
HP:0001770	Toe syndactyly	92002	CCNQ	OMIM:300707
HP:0001770	Toe syndactyly	92002	CCNQ	ORPHA:140952
HP:0001770	Toe syndactyly	5290	PIK3CA	ORPHA:60040
HP:0001770	Toe syndactyly	91754	NEK9	ORPHA:64754
HP:0001770	Toe syndactyly	57514	ARHGAP31	OMIM:100300
HP:0001770	Toe syndactyly	79005	SCNM1	OMIM:620107
HP:0001770	Toe syndactyly	6608	SMO	OMIM:241800
HP:0001770	Toe syndactyly	6608	SMO	ORPHA:1553
HP:0001770	Toe syndactyly	6134	RPL10	ORPHA:459070
HP:0001770	Toe syndactyly	84992	PIGY	OMIM:616809
HP:0001770	Toe syndactyly	51633	OTUD6B	ORPHA:505237
HP:0001770	Toe syndactyly	374879	ZNF699	OMIM:619488
HP:0001770	Toe syndactyly	28957	MRPS28	OMIM:618958
HP:0001770	Toe syndactyly	8450	CUL4B	ORPHA:85293
HP:0001770	Toe syndactyly	2261	FGFR3	ORPHA:2363
HP:0001770	Toe syndactyly	2255	FGF10	ORPHA:2363
HP:0001770	Toe syndactyly	79971	WLS	OMIM:619648
HP:0001770	Toe syndactyly	6299	SALL1	ORPHA:857
HP:0001770	Toe syndactyly	51339	DACT1	ORPHA:857
HP:0001770	Toe syndactyly	526	ATP6V1B2	OMIM:124480
HP:0001770	Toe syndactyly	2316	FLNA	OMIM:304120
HP:0001770	Toe syndactyly	2316	FLNA	OMIM:311300
HP:0001770	Toe syndactyly	407975	MIR17HG	ORPHA:391646
HP:0001770	Toe syndactyly	2767	GNA11	ORPHA:1556
HP:0001770	Toe syndactyly	151188	ARL6IP6	ORPHA:1556
HP:0001770	Toe syndactyly	4208	MEF2C	ORPHA:228384
HP:0001770	Toe syndactyly	2239	GPC4	ORPHA:373
HP:0001770	Toe syndactyly	2719	GPC3	ORPHA:373
HP:0001770	Toe syndactyly	3664	IRF6	ORPHA:1300
HP:0001770	Toe syndactyly	4087	SMAD2	OMIM:619657
HP:0001770	Toe syndactyly	50945	TBX22	ORPHA:921
HP:0001770	Toe syndactyly	9896	FIG4	OMIM:216340
HP:0001770	Toe syndactyly	29968	PSAT1	OMIM:616038
HP:0001770	Toe syndactyly	10664	CTCF	OMIM:615502
HP:0001770	Toe syndactyly	26123	TCTN3	OMIM:258860
HP:0001770	Toe syndactyly	10682	EBP	ORPHA:401973
HP:0001770	Toe syndactyly	10682	EBP	OMIM:300960
HP:0001770	Toe syndactyly	658	BMPR1B	OMIM:112600
HP:0001770	Toe syndactyly	650	BMP2	OMIM:112600
HP:0001770	Toe syndactyly	8200	GDF5	OMIM:112600
HP:0001770	Toe syndactyly	22827	PUF60	ORPHA:508498
HP:0001770	Toe syndactyly	11253	MAN1B1	ORPHA:397941
HP:0001770	Toe syndactyly	23394	ADNP	ORPHA:404448
HP:0001770	Toe syndactyly	5898	RALA	OMIM:619311
HP:0001770	Toe syndactyly	8294	H4C9	OMIM:619951
HP:0001770	Toe syndactyly	8506	CNTNAP1	OMIM:618186
HP:0001770	Toe syndactyly	4683	NBN	OMIM:251260
HP:0001770	Toe syndactyly	81857	MED25	OMIM:616449
HP:0001770	Toe syndactyly	81857	MED25	ORPHA:464738
HP:0001770	Toe syndactyly	10586	MAB21L2	OMIM:615877
HP:0001770	Toe syndactyly	5927	KDM5A	OMIM:620820
HP:0001770	Toe syndactyly	8854	ALDH1A2	OMIM:620025
HP:0001770	Toe syndactyly	10274	STAG1	ORPHA:502434
HP:0001770	Toe syndactyly	85358	SHANK3	OMIM:606232
HP:0001770	Toe syndactyly	64324	NSD1	ORPHA:821
HP:0001770	Toe syndactyly	10297	APC2	ORPHA:821
HP:0001770	Toe syndactyly	55209	SETD5	ORPHA:404440
HP:0001770	Toe syndactyly	55790	CSGALNACT1	OMIM:618870
HP:0001770	Toe syndactyly	23291	FBXW11	OMIM:618914
HP:0001770	Toe syndactyly	10982	MAPRE2	OMIM:616734
HP:0001770	Toe syndactyly	1717	DHCR7	ORPHA:818
HP:0001770	Toe syndactyly	1717	DHCR7	OMIM:270400
HP:0001770	Toe syndactyly	4297	KMT2A	OMIM:605130
HP:0001770	Toe syndactyly	6660	SOX5	ORPHA:313892
HP:0001770	Toe syndactyly	54880	BCOR	ORPHA:2712
HP:0001770	Toe syndactyly	54880	BCOR	OMIM:300166
HP:0001770	Toe syndactyly	11145	PLAAT3	OMIM:620683
HP:0001770	Toe syndactyly	51057	WDPCP	OMIM:217085
HP:0001770	Toe syndactyly	7319	UBE2A	OMIM:300860
HP:0001770	Toe syndactyly	10087	CERT1	OMIM:616351
HP:0001770	Toe syndactyly	372	ARCN1	OMIM:617164
HP:0001770	Toe syndactyly	164	AP1G1	OMIM:619467
HP:0001770	Toe syndactyly	1656	DDX6	OMIM:618653
HP:0001770	Toe syndactyly	4212	MEIS2	OMIM:600987
HP:0001770	Toe syndactyly	23327	NEDD4L	OMIM:617201
HP:0001770	Toe syndactyly	5147	PDE6D	OMIM:615665
HP:0001770	Toe syndactyly	57178	ZMIZ1	OMIM:618659
HP:0001770	Toe syndactyly	93627	TBCK	ORPHA:488632
HP:0001770	Toe syndactyly	6304	SATB1	OMIM:619229
HP:0001770	Toe syndactyly	6874	TAF4	OMIM:620450
HP:0001770	Toe syndactyly	80185	TTI2	ORPHA:391307
HP:0001770	Toe syndactyly	3590	IL11RA	OMIM:614188
HP:0001770	Toe syndactyly	55165	CEP55	OMIM:236500
HP:0001770	Toe syndactyly	10907	TXNL4A	OMIM:608572
HP:0001770	Toe syndactyly	284252	KCTD1	OMIM:181270
HP:0001770	Toe syndactyly	6558	SLC12A2	OMIM:619080
HP:0001770	Toe syndactyly	7204	TRIO	OMIM:617061
HP:0001770	Toe syndactyly	7204	TRIO	ORPHA:476126
HP:0001770	Toe syndactyly	2222	FDFT1	OMIM:618156
HP:0001770	Toe syndactyly	4089	SMAD4	OMIM:139210
HP:0001770	Toe syndactyly	6857	SYT1	ORPHA:522077
HP:0001770	Toe syndactyly	8318	CDC45	OMIM:617063
HP:0001770	Toe syndactyly	6472	SHMT2	OMIM:619121
HP:0001770	Toe syndactyly	112752	IFT43	OMIM:617866
HP:0001770	Toe syndactyly	112752	IFT43	OMIM:614099
HP:0001770	Toe syndactyly	80210	ARMC9	OMIM:617622
HP:0001770	Toe syndactyly	57570	TRMT5	OMIM:616539
HP:0001770	Toe syndactyly	3708	ITPR1	OMIM:117360
HP:0001770	Toe syndactyly	23529	CLCF1	OMIM:610313
HP:0001770	Toe syndactyly	11128	POLR3A	ORPHA:3455
HP:0001770	Toe syndactyly	745	MYRF	OMIM:618280
HP:0001770	Toe syndactyly	23387	SIK3	OMIM:618162
HP:0001770	Toe syndactyly	10020	GNE	OMIM:269921
HP:0001770	Toe syndactyly	10020	GNE	ORPHA:3166
HP:0001770	Toe syndactyly	1663	DDX11	OMIM:613398
HP:0001770	Toe syndactyly	9757	KMT2B	OMIM:619934
HP:0001770	Toe syndactyly	4848	CNOT2	OMIM:618608
HP:0001770	Toe syndactyly	55023	PHIP	ORPHA:589905
HP:0001770	Toe syndactyly	6913	TBX15	OMIM:260660
HP:0001770	Toe syndactyly	341208	HEPHL1	OMIM:261990
HP:0001770	Toe syndactyly	55212	BBS7	OMIM:615984
HP:0001770	Toe syndactyly	3516	RBPJ	OMIM:614814
HP:0001770	Toe syndactyly	3720	JARID2	OMIM:620098
HP:0001770	Toe syndactyly	3762	KCNJ5	ORPHA:37553
HP:0001770	Toe syndactyly	9990	SLC12A6	OMIM:218000
HP:0001770	Toe syndactyly	51776	MAP3K20	OMIM:616890
HP:0001770	Toe syndactyly	51776	MAP3K20	ORPHA:488232
HP:0001770	Toe syndactyly	50814	NSDHL	OMIM:308050
HP:0001770	Toe syndactyly	81607	NECTIN4	OMIM:613573
HP:0001770	Toe syndactyly	79583	TMEM231	OMIM:614970
HP:0001770	Toe syndactyly	9894	TELO2	ORPHA:488642
HP:0001770	Toe syndactyly	5932	RBBP8	OMIM:251255
HP:0001770	Toe syndactyly	4204	MECP2	OMIM:300260
HP:0001770	Toe syndactyly	8295	TRRAP	OMIM:618454
HP:0001770	Toe syndactyly	91179	SCARF2	OMIM:600920
HP:0001770	Toe syndactyly	23288	IQCE	OMIM:617642
HP:0001770	Toe syndactyly	5587	PRKD1	OMIM:617364
HP:0001770	Toe syndactyly	55784	MCTP2	ORPHA:1596
HP:0001770	Toe syndactyly	23261	CAMTA1	OMIM:614756
HP:0001770	Toe syndactyly	775	CACNA1C	OMIM:620029
HP:0001770	Toe syndactyly	8823	FGF16	OMIM:309630
HP:0001770	Toe syndactyly	253738	EBF3	ORPHA:96148
HP:0001770	Toe syndactyly	10079	ATP9A	OMIM:620242
HP:0001770	Toe syndactyly	2556	GABRA3	OMIM:301091
HP:0001770	Toe syndactyly	374969	SVBP	OMIM:618569
HP:0001770	Toe syndactyly	1859	DYRK1A	ORPHA:268261
HP:0001770	Toe syndactyly	1001	CDH3	OMIM:225280
HP:0001770	Toe syndactyly	387	RHOA	OMIM:618727
HP:0001770	Toe syndactyly	4626	MYH8	OMIM:158300
HP:0001770	Toe syndactyly	1387	CREBBP	OMIM:618332
HP:0001770	Toe syndactyly	2033	EP300	OMIM:618333
HP:0001770	Toe syndactyly	2254	FGF9	OMIM:612961
HP:0001770	Toe syndactyly	79633	FAT4	OMIM:615546
HP:0001770	Toe syndactyly	64116	SLC39A8	ORPHA:468699
HP:0001770	Toe syndactyly	56916	SMARCAD1	OMIM:129200
HP:0001770	Toe syndactyly	150468	CKAP2L	OMIM:272440
HP:0010980	Hyperlipoproteinemia	3949	LDLR	ORPHA:391665
HP:0010980	Hyperlipoproteinemia	3949	LDLR	OMIM:143890
HP:0010980	Hyperlipoproteinemia	255738	PCSK9	ORPHA:391665
HP:0010980	Hyperlipoproteinemia	26119	LDLRAP1	ORPHA:391665
HP:0010980	Hyperlipoproteinemia	338	APOB	ORPHA:391665
HP:0010980	Hyperlipoproteinemia	338	APOB	OMIM:144010
HP:0010980	Hyperlipoproteinemia	64240	ABCG5	ORPHA:391665
HP:0010980	Hyperlipoproteinemia	64241	ABCG8	ORPHA:391665
HP:0010980	Hyperlipoproteinemia	9056	SLC7A7	ORPHA:470
HP:0010980	Hyperlipoproteinemia	6609	SMPD1	ORPHA:77293
HP:0010980	Hyperlipoproteinemia	6609	SMPD1	OMIM:607616
HP:0010980	Hyperlipoproteinemia	63036	CELA2A	OMIM:618620
HP:0010980	Hyperlipoproteinemia	213	ALB	OMIM:616000
HP:0010980	Hyperlipoproteinemia	3988	LIPA	OMIM:278000
HP:0010980	Hyperlipoproteinemia	336	APOA2	OMIM:143890
HP:0010980	Hyperlipoproteinemia	2053	EPHX2	OMIM:143890
HP:0010980	Hyperlipoproteinemia	10842	PPP1R17	OMIM:143890
HP:0010980	Hyperlipoproteinemia	2690	GHR	OMIM:143890
HP:0010980	Hyperlipoproteinemia	9149	DYRK1B	OMIM:615812
HP:0010980	Hyperlipoproteinemia	147007	TMEM199	OMIM:616829
HP:0010980	Hyperlipoproteinemia	84317	CCDC115	OMIM:616828
HP:0010980	Hyperlipoproteinemia	2273	FHL1	ORPHA:98863
HP:0010980	Hyperlipoproteinemia	2010	EMD	ORPHA:98863
HP:0010980	Hyperlipoproteinemia	20	ABCA2	OMIM:618808
HP:0010980	Hyperlipoproteinemia	1581	CYP7A1	ORPHA:209902
HP:0010980	Hyperlipoproteinemia	4040	LRP6	OMIM:610947
HP:0010980	Hyperlipoproteinemia	3931	LCAT	OMIM:136120
HP:0010980	Hyperlipoproteinemia	4000	LMNA	OMIM:151660
HP:0010980	Hyperlipoproteinemia	4000	LMNA	OMIM:616516
HP:0010980	Hyperlipoproteinemia	4000	LMNA	ORPHA:98855
HP:0010980	Hyperlipoproteinemia	4000	LMNA	ORPHA:98853
HP:0010980	Hyperlipoproteinemia	84984	CEP19	OMIM:615703
HP:0010980	Hyperlipoproteinemia	10165	SLC25A13	ORPHA:247598
HP:0010980	Hyperlipoproteinemia	4023	LPL	OMIM:144250
HP:0010980	Hyperlipoproteinemia	7274	TTPA	OMIM:277460
HP:0010980	Hyperlipoproteinemia	348	APOE	ORPHA:412
HP:0010980	Hyperlipoproteinemia	79188	TMEM43	ORPHA:98853
HP:0010980	Hyperlipoproteinemia	23345	SYNE1	ORPHA:98853
HP:0010980	Hyperlipoproteinemia	23224	SYNE2	ORPHA:98853
HP:0010980	Hyperlipoproteinemia	116519	APOA5	OMIM:145750
HP:0010980	Hyperlipoproteinemia	116519	APOA5	OMIM:144650
HP:0010980	Hyperlipoproteinemia	197131	UBR1	OMIM:243800
HP:0010980	Hyperlipoproteinemia	338328	GPIHBP1	OMIM:615947
HP:0010980	Hyperlipoproteinemia	3990	LIPC	OMIM:614025
HP:0010980	Hyperlipoproteinemia	3990	LIPC	ORPHA:140905
HP:0010980	Hyperlipoproteinemia	345	APOC3	OMIM:614028
HP:0010980	Hyperlipoproteinemia	1071	CETP	OMIM:143470
HP:0010980	Hyperlipoproteinemia	344	APOC2	OMIM:207750
HP:0010981	Hypolipoproteinemia	4000	LMNA	ORPHA:280365
HP:0010981	Hypolipoproteinemia	4000	LMNA	OMIM:151660
HP:0010981	Hypolipoproteinemia	9056	SLC7A7	ORPHA:470
HP:0010981	Hypolipoproteinemia	92482	BBIP1	ORPHA:110
HP:0010981	Hypolipoproteinemia	80184	CEP290	ORPHA:110
HP:0010981	Hypolipoproteinemia	11020	IFT27	ORPHA:110
HP:0010981	Hypolipoproteinemia	582	BBS1	ORPHA:110
HP:0010981	Hypolipoproteinemia	49855	SCAPER	ORPHA:110
HP:0010981	Hypolipoproteinemia	4867	NPHP1	ORPHA:110
HP:0010981	Hypolipoproteinemia	51057	WDPCP	ORPHA:110
HP:0010981	Hypolipoproteinemia	132320	SCLT1	ORPHA:110
HP:0010981	Hypolipoproteinemia	27241	BBS9	ORPHA:110
HP:0010981	Hypolipoproteinemia	84984	CEP19	ORPHA:110
HP:0010981	Hypolipoproteinemia	84984	CEP19	OMIM:615703
HP:0010981	Hypolipoproteinemia	22954	TRIM32	ORPHA:110
HP:0010981	Hypolipoproteinemia	54903	MKS1	ORPHA:110
HP:0010981	Hypolipoproteinemia	79738	BBS10	ORPHA:110
HP:0010981	Hypolipoproteinemia	123016	TTC8	ORPHA:110
HP:0010981	Hypolipoproteinemia	26160	IFT172	ORPHA:110
HP:0010981	Hypolipoproteinemia	583	BBS2	ORPHA:110
HP:0010981	Hypolipoproteinemia	585	BBS4	ORPHA:110
HP:0010981	Hypolipoproteinemia	8195	MKKS	ORPHA:110
HP:0010981	Hypolipoproteinemia	54585	LZTFL1	ORPHA:110
HP:0010981	Hypolipoproteinemia	55212	BBS7	ORPHA:110
HP:0010981	Hypolipoproteinemia	166379	BBS12	ORPHA:110
HP:0010981	Hypolipoproteinemia	10806	SDCCAG8	ORPHA:110
HP:0010981	Hypolipoproteinemia	157657	CFAP418	ORPHA:110
HP:0010981	Hypolipoproteinemia	84100	ARL6	ORPHA:110
HP:0010981	Hypolipoproteinemia	129880	BBS5	ORPHA:110
HP:0010981	Hypolipoproteinemia	80173	IFT74	ORPHA:110
HP:0010981	Hypolipoproteinemia	6609	SMPD1	ORPHA:77293
HP:0010981	Hypolipoproteinemia	6609	SMPD1	OMIM:607616
HP:0010981	Hypolipoproteinemia	63036	CELA2A	OMIM:618620
HP:0010981	Hypolipoproteinemia	2590	GALNT2	OMIM:618885
HP:0010981	Hypolipoproteinemia	335	APOA1	OMIM:618463
HP:0010981	Hypolipoproteinemia	335	APOA1	OMIM:619836
HP:0010981	Hypolipoproteinemia	335	APOA1	ORPHA:425
HP:0010981	Hypolipoproteinemia	335	APOA1	OMIM:620657
HP:0010981	Hypolipoproteinemia	3988	LIPA	OMIM:278000
HP:0010981	Hypolipoproteinemia	19	ABCA1	OMIM:604091
HP:0010981	Hypolipoproteinemia	19	ABCA1	OMIM:205400
HP:0010981	Hypolipoproteinemia	19	ABCA1	ORPHA:425
HP:0010981	Hypolipoproteinemia	10165	SLC25A13	ORPHA:247585
HP:0010981	Hypolipoproteinemia	10165	SLC25A13	OMIM:605814
HP:0010981	Hypolipoproteinemia	10165	SLC25A13	ORPHA:247598
HP:0010981	Hypolipoproteinemia	338	APOB	OMIM:615558
HP:0010981	Hypolipoproteinemia	7840	ALMS1	OMIM:203800
HP:0010981	Hypolipoproteinemia	11145	PLAAT3	OMIM:620683
HP:0010981	Hypolipoproteinemia	83550	GPR101	ORPHA:963
HP:0010981	Hypolipoproteinemia	9049	AIP	ORPHA:963
HP:0010981	Hypolipoproteinemia	100033413	SNORD116-1	OMIM:176270
HP:0010981	Hypolipoproteinemia	8924	HERC2	OMIM:176270
HP:0010981	Hypolipoproteinemia	23742	NPAP1	OMIM:176270
HP:0010981	Hypolipoproteinemia	338433	SNORD115-1	OMIM:176270
HP:0010981	Hypolipoproteinemia	54551	MAGEL2	OMIM:176270
HP:0010981	Hypolipoproteinemia	7681	MKRN3	OMIM:176270
HP:0010981	Hypolipoproteinemia	145624	PWAR1	OMIM:176270
HP:0010981	Hypolipoproteinemia	3653	IPW	OMIM:176270
HP:0010981	Hypolipoproteinemia	791114	PWRN1	OMIM:176270
HP:0010981	Hypolipoproteinemia	5130	PCYT1A	OMIM:620680
HP:0010981	Hypolipoproteinemia	4547	MTTP	ORPHA:14
HP:0010981	Hypolipoproteinemia	3931	LCAT	OMIM:245900
HP:0010981	Hypolipoproteinemia	3931	LCAT	OMIM:136120
HP:0010981	Hypolipoproteinemia	3931	LCAT	ORPHA:79292
HP:0010981	Hypolipoproteinemia	5468	PPARG	OMIM:604367
HP:0010981	Hypolipoproteinemia	84699	CREB3L3	OMIM:619324
HP:0010981	Hypolipoproteinemia	116519	APOA5	OMIM:144650
HP:0010981	Hypolipoproteinemia	6307	MSMO1	OMIM:616834
HP:0010981	Hypolipoproteinemia	5696	PSMB8	OMIM:256040
HP:0010981	Hypolipoproteinemia	338328	GPIHBP1	OMIM:615947
HP:0010981	Hypolipoproteinemia	348	APOE	ORPHA:412
HP:0010981	Hypolipoproteinemia	2629	GBA1	ORPHA:77259
HP:0010981	Hypolipoproteinemia	950	SCARB2	ORPHA:77259
HP:0010981	Hypolipoproteinemia	27329	ANGPTL3	OMIM:605019
HP:0010981	Hypolipoproteinemia	51128	SAR1B	OMIM:246700
HP:0010981	Hypolipoproteinemia	2222	FDFT1	OMIM:618156
HP:0010981	Hypolipoproteinemia	26119	LDLRAP1	OMIM:603813
HP:0010981	Hypolipoproteinemia	345	APOC3	OMIM:614028
HP:0010981	Hypolipoproteinemia	29929	ALG6	ORPHA:79320
HP:0010981	Hypolipoproteinemia	55768	NGLY1	ORPHA:404454
HP:0010981	Hypolipoproteinemia	2683	B4GALT1	OMIM:620364
HP:0010981	Hypolipoproteinemia	2683	B4GALT1	ORPHA:79332
HP:0010982	Polygenic inheritance	3356	HTR2A	OMIM:608516
HP:0010982	Polygenic inheritance	2289	FKBP5	OMIM:608516
HP:0010982	Polygenic inheritance	121278	TPH2	OMIM:608516
HP:0010982	Polygenic inheritance	219736	STOX1	OMIM:609404
HP:0010982	Polygenic inheritance	155	ADRB3	OMIM:601665
HP:0010982	Polygenic inheritance	5167	ENPP1	OMIM:601665
HP:0010982	Polygenic inheritance	7352	UCP3	OMIM:601665
HP:0010982	Polygenic inheritance	5443	POMC	OMIM:601665
HP:0010982	Polygenic inheritance	8431	NR0B2	OMIM:601665
HP:0010982	Polygenic inheritance	9607	CARTPT	OMIM:601665
HP:0010982	Polygenic inheritance	51738	GHRL	OMIM:601665
HP:0010982	Polygenic inheritance	9672	SDC3	OMIM:601665
HP:0010982	Polygenic inheritance	181	AGRP	OMIM:601665
HP:0010982	Polygenic inheritance	5468	PPARG	OMIM:601665
HP:0010982	Polygenic inheritance	7157	TP53	OMIM:607107
HP:0010982	Polygenic inheritance	22861	NLRP1	OMIM:606579
HP:0010982	Polygenic inheritance	652	BMP4	OMIM:600625
HP:0010982	Polygenic inheritance	2782	GNB1	OMIM:613065
HP:0010982	Polygenic inheritance	6886	TAL1	OMIM:613065
HP:0010982	Polygenic inheritance	6887	TAL2	OMIM:613065
HP:0010982	Polygenic inheritance	581	BAX	OMIM:613065
HP:0010982	Polygenic inheritance	2322	FLT3	OMIM:613065
HP:0010982	Polygenic inheritance	4683	NBN	OMIM:613065
HP:0010982	Polygenic inheritance	8021	NUP214	OMIM:613065
HP:0010982	Polygenic inheritance	613	BCR	OMIM:613065
HP:0010982	Polygenic inheritance	8542	APOL1	OMIM:612551
HP:0010982	Polygenic inheritance	64241	ABCG8	OMIM:611465
HP:0010982	Polygenic inheritance	144568	A2ML1	OMIM:166760
HP:0010982	Polygenic inheritance	3075	CFH	OMIM:610698
HP:0010982	Polygenic inheritance	5654	HTRA1	OMIM:610149
HP:0010982	Polygenic inheritance	1471	CST3	OMIM:611953
HP:0010982	Polygenic inheritance	3664	IRF6	OMIM:608864
HP:0010982	Polygenic inheritance	871	SERPINH1	OMIM:610504
HP:0010983	Oligogenic inheritance	23767	FLRT3	OMIM:615271
HP:0010984	Digenic inheritance	7298	TYMS	OMIM:620040
HP:0010984	Digenic inheritance	128	ADH5	OMIM:619151
HP:0010984	Digenic inheritance	79659	DYNC2H1	OMIM:613091
HP:0010984	Digenic inheritance	1187	CLCNKA	OMIM:613090
HP:0010984	Digenic inheritance	1188	CLCNKB	OMIM:613090
HP:0010984	Digenic inheritance	392255	GDF6	OMIM:613703
HP:0010984	Digenic inheritance	9573	GDF3	OMIM:613703
HP:0010984	Digenic inheritance	23347	SMCHD1	OMIM:158901
HP:0010984	Digenic inheritance	55791	LRIF1	OMIM:619477
HP:0010984	Digenic inheritance	1789	DNMT3B	OMIM:619478
HP:0010984	Digenic inheritance	2706	GJB2	OMIM:220290
HP:0010984	Digenic inheritance	2707	GJB3	OMIM:220290
HP:0010984	Digenic inheritance	10804	GJB6	OMIM:220290
HP:0010984	Digenic inheritance	28234	SLCO1B3	OMIM:237450
HP:0010984	Digenic inheritance	10599	SLCO1B1	OMIM:237450
HP:0010984	Digenic inheritance	4750	NEK1	OMIM:263520
HP:0000005	Mode of inheritance	3858	KRT10	OMIM:607602
HP:0000005	Mode of inheritance	3858	KRT10	OMIM:609165
HP:0000005	Mode of inheritance	3858	KRT10	OMIM:620150
HP:0000005	Mode of inheritance	3858	KRT10	OMIM:146600
HP:0000005	Mode of inheritance	161582	DNAAF4	OMIM:127700
HP:0000005	Mode of inheritance	55240	STEAP3	OMIM:615234
HP:0000005	Mode of inheritance	3910	LAMA4	OMIM:615235
HP:0000005	Mode of inheritance	1134	CHRNA1	OMIM:608930
HP:0000005	Mode of inheritance	1134	CHRNA1	OMIM:601462
HP:0000005	Mode of inheritance	1421	CRYGD	OMIM:115700
HP:0000005	Mode of inheritance	283489	CHAMP1	OMIM:616579
HP:0000005	Mode of inheritance	84665	MYPN	OMIM:615248
HP:0000005	Mode of inheritance	4790	NFKB1	OMIM:616576
HP:0000005	Mode of inheritance	54795	TRPM4	OMIM:604559
HP:0000005	Mode of inheritance	54795	TRPM4	OMIM:618531
HP:0000005	Mode of inheritance	3190	HNRNPK	OMIM:616580
HP:0000005	Mode of inheritance	653509	SFTPA1	OMIM:619611
HP:0000005	Mode of inheritance	657	BMPR1A	OMIM:174900
HP:0000005	Mode of inheritance	657	BMPR1A	OMIM:610069
HP:0000005	Mode of inheritance	54567	DLL4	OMIM:616589
HP:0000005	Mode of inheritance	55366	LGR4	OMIM:619613
HP:0000005	Mode of inheritance	2078	ERG	OMIM:620602
HP:0000005	Mode of inheritance	7010	TEK	OMIM:600195
HP:0000005	Mode of inheritance	7010	TEK	OMIM:617272
HP:0000005	Mode of inheritance	5621	PRNP	OMIM:603218
HP:0000005	Mode of inheritance	5621	PRNP	OMIM:600072
HP:0000005	Mode of inheritance	5621	PRNP	OMIM:123400
HP:0000005	Mode of inheritance	5621	PRNP	OMIM:606688
HP:0000005	Mode of inheritance	5621	PRNP	OMIM:137440
HP:0000005	Mode of inheritance	5159	PDGFRB	OMIM:616592
HP:0000005	Mode of inheritance	5159	PDGFRB	OMIM:615007
HP:0000005	Mode of inheritance	5159	PDGFRB	OMIM:228550
HP:0000005	Mode of inheritance	5159	PDGFRB	OMIM:213600
HP:0000005	Mode of inheritance	5159	PDGFRB	OMIM:601812
HP:0000005	Mode of inheritance	5159	PDGFRB	OMIM:131440
HP:0000005	Mode of inheritance	64121	RRAGC	OMIM:620609
HP:0000005	Mode of inheritance	9997	SCO2	OMIM:608908
HP:0000005	Mode of inheritance	81848	SPRY4	OMIM:615266
HP:0000005	Mode of inheritance	10347	ABCA7	OMIM:608907
HP:0000005	Mode of inheritance	1848	DUSP6	OMIM:615269
HP:0000005	Mode of inheritance	54756	IL17RD	OMIM:615267
HP:0000005	Mode of inheritance	1111	CHEK1	OMIM:620610
HP:0000005	Mode of inheritance	54345	SOX18	OMIM:137940
HP:0000005	Mode of inheritance	8822	FGF17	OMIM:615270
HP:0000005	Mode of inheritance	4284	MIP	OMIM:615274
HP:0000005	Mode of inheritance	79719	AAGAB	OMIM:148600
HP:0000005	Mode of inheritance	1311	COMP	OMIM:177170
HP:0000005	Mode of inheritance	1311	COMP	OMIM:132400
HP:0000005	Mode of inheritance	1311	COMP	OMIM:619161
HP:0000005	Mode of inheritance	5605	MAP2K2	OMIM:615280
HP:0000005	Mode of inheritance	6141	RPL18	OMIM:618310
HP:0000005	Mode of inheritance	11224	RPL35	OMIM:618312
HP:0000005	Mode of inheritance	3800	KIF5C	OMIM:615282
HP:0000005	Mode of inheritance	6210	RPS15A	OMIM:618313
HP:0000005	Mode of inheritance	4076	CAPRIN1	OMIM:620636
HP:0000005	Mode of inheritance	4076	CAPRIN1	OMIM:620782
HP:0000005	Mode of inheritance	476	ATP1A1	OMIM:618314
HP:0000005	Mode of inheritance	476	ATP1A1	OMIM:618036
HP:0000005	Mode of inheritance	11155	LDB3	OMIM:601493
HP:0000005	Mode of inheritance	11155	LDB3	OMIM:609452
HP:0000005	Mode of inheritance	7139	TNNT2	OMIM:601494
HP:0000005	Mode of inheritance	7139	TNNT2	OMIM:115195
HP:0000005	Mode of inheritance	7139	TNNT2	OMIM:612422
HP:0000005	Mode of inheritance	1910	EDNRB	OMIM:600155
HP:0000005	Mode of inheritance	1910	EDNRB	OMIM:277580
HP:0000005	Mode of inheritance	57609	DIP2B	OMIM:136630
HP:0000005	Mode of inheritance	6654	SOS1	OMIM:135300
HP:0000005	Mode of inheritance	6654	SOS1	OMIM:610733
HP:0000005	Mode of inheritance	23299	BICD2	OMIM:615290
HP:0000005	Mode of inheritance	23299	BICD2	OMIM:618291
HP:0000005	Mode of inheritance	1436	CSF1R	OMIM:221820
HP:0000005	Mode of inheritance	4854	NOTCH3	OMIM:615293
HP:0000005	Mode of inheritance	4854	NOTCH3	OMIM:125310
HP:0000005	Mode of inheritance	4854	NOTCH3	OMIM:130720
HP:0000005	Mode of inheritance	8200	GDF5	OMIM:615298
HP:0000005	Mode of inheritance	8200	GDF5	OMIM:112600
HP:0000005	Mode of inheritance	8200	GDF5	OMIM:113100
HP:0000005	Mode of inheritance	8200	GDF5	OMIM:615072
HP:0000005	Mode of inheritance	8200	GDF5	OMIM:610017
HP:0000005	Mode of inheritance	859	CAV3	OMIM:123320
HP:0000005	Mode of inheritance	859	CAV3	OMIM:192600
HP:0000005	Mode of inheritance	859	CAV3	OMIM:606072
HP:0000005	Mode of inheritance	859	CAV3	OMIM:614321
HP:0000005	Mode of inheritance	859	CAV3	OMIM:611818
HP:0000005	Mode of inheritance	6240	RRM1	OMIM:620647
HP:0000005	Mode of inheritance	23499	MACF1	OMIM:618325
HP:0000005	Mode of inheritance	4087	SMAD2	OMIM:619656
HP:0000005	Mode of inheritance	4087	SMAD2	OMIM:619657
HP:0000005	Mode of inheritance	81839	VANGL1	OMIM:600145
HP:0000005	Mode of inheritance	81839	VANGL1	OMIM:182940
HP:0000005	Mode of inheritance	11231	SEC63	OMIM:617004
HP:0000005	Mode of inheritance	1523	CUX1	OMIM:618330
HP:0000005	Mode of inheritance	16	AARS1	OMIM:619661
HP:0000005	Mode of inheritance	16	AARS1	OMIM:613287
HP:0000005	Mode of inheritance	58495	OVOL2	OMIM:122000
HP:0000005	Mode of inheritance	4069	LYZ	OMIM:620658
HP:0000005	Mode of inheritance	567	B2M	OMIM:620659
HP:0000005	Mode of inheritance	335	APOA1	OMIM:620657
HP:0000005	Mode of inheritance	335	APOA1	OMIM:619836
HP:0000005	Mode of inheritance	5908	RAP1B	OMIM:620654
HP:0000005	Mode of inheritance	4023	LPL	OMIM:144250
HP:0000005	Mode of inheritance	2744	GLS	OMIM:618339
HP:0000005	Mode of inheritance	2617	GARS1	OMIM:601472
HP:0000005	Mode of inheritance	2617	GARS1	OMIM:600794
HP:0000005	Mode of inheritance	2617	GARS1	OMIM:619042
HP:0000005	Mode of inheritance	5309	PITX3	OMIM:107250
HP:0000005	Mode of inheritance	5309	PITX3	OMIM:610623
HP:0000005	Mode of inheritance	658	BMPR1B	OMIM:112600
HP:0000005	Mode of inheritance	658	BMPR1B	OMIM:616849
HP:0000005	Mode of inheritance	650	BMP2	OMIM:112600
HP:0000005	Mode of inheritance	650	BMP2	OMIM:617877
HP:0000005	Mode of inheritance	4311	MME	OMIM:617018
HP:0000005	Mode of inheritance	4311	MME	OMIM:617017
HP:0000005	Mode of inheritance	2495	FTH1	OMIM:620669
HP:0000005	Mode of inheritance	2495	FTH1	OMIM:615517
HP:0000005	Mode of inheritance	5396	PRRX1	OMIM:202650
HP:0000005	Mode of inheritance	4001	LMNB1	OMIM:169500
HP:0000005	Mode of inheritance	4001	LMNB1	OMIM:619179
HP:0000005	Mode of inheritance	3857	KRT9	OMIM:144200
HP:0000005	Mode of inheritance	5575	PRKAR1B	OMIM:619680
HP:0000005	Mode of inheritance	5515	PPP2CA	OMIM:618354
HP:0000005	Mode of inheritance	5610	EIF2AK2	OMIM:619687
HP:0000005	Mode of inheritance	5610	EIF2AK2	OMIM:618877
HP:0000005	Mode of inheritance	518	ATP5MC3	OMIM:619681
HP:0000005	Mode of inheritance	8912	CACNA1H	OMIM:617027
HP:0000005	Mode of inheritance	150	ADRA2A	OMIM:620679
HP:0000005	Mode of inheritance	29927	SEC61A1	OMIM:620674
HP:0000005	Mode of inheritance	29927	SEC61A1	OMIM:620670
HP:0000005	Mode of inheritance	29927	SEC61A1	OMIM:617056
HP:0000005	Mode of inheritance	55777	MBD5	OMIM:156200
HP:0000005	Mode of inheritance	1145	CHRNE	OMIM:605809
HP:0000005	Mode of inheritance	6601	SMARCC2	OMIM:618362
HP:0000005	Mode of inheritance	92255	LMBRD2	OMIM:619694
HP:0000005	Mode of inheritance	7021	TFAP2B	OMIM:617035
HP:0000005	Mode of inheritance	7021	TFAP2B	OMIM:169100
HP:0000005	Mode of inheritance	6334	SCN8A	OMIM:618364
HP:0000005	Mode of inheritance	6334	SCN8A	OMIM:617080
HP:0000005	Mode of inheritance	6334	SCN8A	OMIM:614558
HP:0000005	Mode of inheritance	6334	SCN8A	OMIM:614306
HP:0000005	Mode of inheritance	93166	PRDM6	OMIM:617039
HP:0000005	Mode of inheritance	55107	ANO1	OMIM:620687
HP:0000005	Mode of inheritance	3183	HNRNPC	OMIM:620688
HP:0000005	Mode of inheritance	9132	KCNQ4	OMIM:600101
HP:0000005	Mode of inheritance	7703	PCGF2	OMIM:618371
HP:0000005	Mode of inheritance	11342	RNF13	OMIM:618379
HP:0000005	Mode of inheritance	9935	MAFB	OMIM:617041
HP:0000005	Mode of inheritance	9935	MAFB	OMIM:166300
HP:0000005	Mode of inheritance	2318	FLNC	OMIM:617047
HP:0000005	Mode of inheritance	2318	FLNC	OMIM:614065
HP:0000005	Mode of inheritance	2318	FLNC	OMIM:609524
HP:0000005	Mode of inheritance	4761	NEUROD2	OMIM:618374
HP:0000005	Mode of inheritance	208	AKT2	OMIM:240900
HP:0000005	Mode of inheritance	208	AKT2	OMIM:125853
HP:0000005	Mode of inheritance	7291	TWIST1	OMIM:180750
HP:0000005	Mode of inheritance	7291	TWIST1	OMIM:617746
HP:0000005	Mode of inheritance	7291	TWIST1	OMIM:101400
HP:0000005	Mode of inheritance	7291	TWIST1	OMIM:123100
HP:0000005	Mode of inheritance	4210	MEFV	OMIM:608068
HP:0000005	Mode of inheritance	4210	MEFV	OMIM:134610
HP:0000005	Mode of inheritance	4035	LRP1	OMIM:620690
HP:0000005	Mode of inheritance	50801	KCNK4	OMIM:618381
HP:0000005	Mode of inheritance	54809	SAMD9	OMIM:617053
HP:0000005	Mode of inheritance	54809	SAMD9	OMIM:619041
HP:0000005	Mode of inheritance	8842	PROM1	OMIM:608051
HP:0000005	Mode of inheritance	8842	PROM1	OMIM:603786
HP:0000005	Mode of inheritance	8842	PROM1	OMIM:612657
HP:0000005	Mode of inheritance	1413	CRYBA4	OMIM:610425
HP:0000005	Mode of inheritance	5589	PRKCSH	OMIM:174050
HP:0000005	Mode of inheritance	128178	EDARADD	OMIM:129490
HP:0000005	Mode of inheritance	128178	EDARADD	OMIM:614940
HP:0000005	Mode of inheritance	10913	EDAR	OMIM:129490
HP:0000005	Mode of inheritance	57061	HYMAI	OMIM:601410
HP:0000005	Mode of inheritance	346171	ZFP57	OMIM:601410
HP:0000005	Mode of inheritance	1457	CSNK2A1	OMIM:617062
HP:0000005	Mode of inheritance	9129	PRPF3	OMIM:601414
HP:0000005	Mode of inheritance	7204	TRIO	OMIM:617061
HP:0000005	Mode of inheritance	7204	TRIO	OMIM:618825
HP:0000005	Mode of inheritance	4009	LMX1A	OMIM:601412
HP:0000005	Mode of inheritance	2324	FLT4	OMIM:153100
HP:0000005	Mode of inheritance	2324	FLT4	OMIM:618780
HP:0000005	Mode of inheritance	2324	FLT4	OMIM:602089
HP:0000005	Mode of inheritance	60468	BACH2	OMIM:618394
HP:0000005	Mode of inheritance	1674	DES	OMIM:601419
HP:0000005	Mode of inheritance	1674	DES	OMIM:181400
HP:0000005	Mode of inheritance	1674	DES	OMIM:604765
HP:0000005	Mode of inheritance	50964	SOST	OMIM:122860
HP:0000005	Mode of inheritance	4486	MST1R	OMIM:617075
HP:0000005	Mode of inheritance	2521	FUS	OMIM:608030
HP:0000005	Mode of inheritance	2521	FUS	OMIM:614782
HP:0000005	Mode of inheritance	2779	GNAT1	OMIM:610444
HP:0000005	Mode of inheritance	6010	RHO	OMIM:610445
HP:0000005	Mode of inheritance	6010	RHO	OMIM:136880
HP:0000005	Mode of inheritance	6010	RHO	OMIM:613731
HP:0000005	Mode of inheritance	23171	GPD1L	OMIM:611777
HP:0000005	Mode of inheritance	11277	TREX1	OMIM:610448
HP:0000005	Mode of inheritance	11277	TREX1	OMIM:152700
HP:0000005	Mode of inheritance	11277	TREX1	OMIM:192315
HP:0000005	Mode of inheritance	11277	TREX1	OMIM:225750
HP:0000005	Mode of inheritance	5216	PFN1	OMIM:614808
HP:0000005	Mode of inheritance	81494	CFHR5	OMIM:614809
HP:0000005	Mode of inheritance	7474	WNT5A	OMIM:180700
HP:0000005	Mode of inheritance	1855	DVL1	OMIM:180700
HP:0000005	Mode of inheritance	1855	DVL1	OMIM:616331
HP:0000005	Mode of inheritance	124093	CCDC78	OMIM:614807
HP:0000005	Mode of inheritance	79092	CARD14	OMIM:602723
HP:0000005	Mode of inheritance	79092	CARD14	OMIM:173200
HP:0000005	Mode of inheritance	1291	COL6A1	OMIM:158810
HP:0000005	Mode of inheritance	1291	COL6A1	OMIM:254090
HP:0000005	Mode of inheritance	2034	EPAS1	OMIM:611783
HP:0000005	Mode of inheritance	7042	TGFB2	OMIM:614816
HP:0000005	Mode of inheritance	59	ACTA2	OMIM:611788
HP:0000005	Mode of inheritance	59	ACTA2	OMIM:613834
HP:0000005	Mode of inheritance	59	ACTA2	OMIM:614042
HP:0000005	Mode of inheritance	3516	RBPJ	OMIM:614814
HP:0000005	Mode of inheritance	3852	KRT5	OMIM:609352
HP:0000005	Mode of inheritance	3852	KRT5	OMIM:619555
HP:0000005	Mode of inheritance	3852	KRT5	OMIM:619588
HP:0000005	Mode of inheritance	3852	KRT5	OMIM:619594
HP:0000005	Mode of inheritance	3852	KRT5	OMIM:131760
HP:0000005	Mode of inheritance	3852	KRT5	OMIM:179850
HP:0000005	Mode of inheritance	3852	KRT5	OMIM:131960
HP:0000005	Mode of inheritance	2294	FOXF1	OMIM:265380
HP:0000005	Mode of inheritance	2643	GCH1	OMIM:128230
HP:0000005	Mode of inheritance	5885	RAD21	OMIM:614701
HP:0000005	Mode of inheritance	6094	ROM1	OMIM:608133
HP:0000005	Mode of inheritance	6094	ROM1	OMIM:268000
HP:0000005	Mode of inheritance	5961	PRPH2	OMIM:608133
HP:0000005	Mode of inheritance	5961	PRPH2	OMIM:136880
HP:0000005	Mode of inheritance	5961	PRPH2	OMIM:613105
HP:0000005	Mode of inheritance	5961	PRPH2	OMIM:169150
HP:0000005	Mode of inheritance	5961	PRPH2	OMIM:608161
HP:0000005	Mode of inheritance	55811	ADCY10	OMIM:143870
HP:0000005	Mode of inheritance	5376	PMP22	OMIM:180800
HP:0000005	Mode of inheritance	5376	PMP22	OMIM:118220
HP:0000005	Mode of inheritance	5376	PMP22	OMIM:139393
HP:0000005	Mode of inheritance	5376	PMP22	OMIM:162500
HP:0000005	Mode of inheritance	5376	PMP22	OMIM:118300
HP:0000005	Mode of inheritance	5376	PMP22	OMIM:145900
HP:0000005	Mode of inheritance	4359	MPZ	OMIM:180800
HP:0000005	Mode of inheritance	4359	MPZ	OMIM:607677
HP:0000005	Mode of inheritance	4359	MPZ	OMIM:618184
HP:0000005	Mode of inheritance	4359	MPZ	OMIM:118200
HP:0000005	Mode of inheritance	4359	MPZ	OMIM:145900
HP:0000005	Mode of inheritance	4359	MPZ	OMIM:607791
HP:0000005	Mode of inheritance	4359	MPZ	OMIM:607736
HP:0000005	Mode of inheritance	727897	MUC5B	OMIM:178500
HP:0000005	Mode of inheritance	6440	SFTPC	OMIM:178500
HP:0000005	Mode of inheritance	6440	SFTPC	OMIM:610913
HP:0000005	Mode of inheritance	729238	SFTPA2	OMIM:178500
HP:0000005	Mode of inheritance	547	KIF1A	OMIM:610357
HP:0000005	Mode of inheritance	547	KIF1A	OMIM:614255
HP:0000005	Mode of inheritance	1286	COL4A4	OMIM:141200
HP:0000005	Mode of inheritance	23020	SNRNP200	OMIM:610359
HP:0000005	Mode of inheritance	4597	MVD	OMIM:614714
HP:0000005	Mode of inheritance	7780	SLC30A2	OMIM:608118
HP:0000005	Mode of inheritance	2483	FRG1	OMIM:158900
HP:0000005	Mode of inheritance	64324	NSD1	OMIM:117550
HP:0000005	Mode of inheritance	6521	SLC4A1	OMIM:179800
HP:0000005	Mode of inheritance	6521	SLC4A1	OMIM:185020
HP:0000005	Mode of inheritance	6521	SLC4A1	OMIM:612653
HP:0000005	Mode of inheritance	6521	SLC4A1	OMIM:166900
HP:0000005	Mode of inheritance	336	APOA2	OMIM:143890
HP:0000005	Mode of inheritance	2053	EPHX2	OMIM:143890
HP:0000005	Mode of inheritance	10842	PPP1R17	OMIM:143890
HP:0000005	Mode of inheritance	3949	LDLR	OMIM:143890
HP:0000005	Mode of inheritance	2690	GHR	OMIM:143890
HP:0000005	Mode of inheritance	2690	GHR	OMIM:604271
HP:0000005	Mode of inheritance	3778	KCNMA1	OMIM:609446
HP:0000005	Mode of inheritance	3778	KCNMA1	OMIM:618729
HP:0000005	Mode of inheritance	3778	KCNMA1	OMIM:618596
HP:0000005	Mode of inheritance	2492	FSHR	OMIM:608115
HP:0000005	Mode of inheritance	6843	VAMP1	OMIM:108600
HP:0000005	Mode of inheritance	2697	GJA1	OMIM:186100
HP:0000005	Mode of inheritance	2697	GJA1	OMIM:104100
HP:0000005	Mode of inheritance	2697	GJA1	OMIM:617525
HP:0000005	Mode of inheritance	2697	GJA1	OMIM:164200
HP:0000005	Mode of inheritance	6833	ABCC8	OMIM:610374
HP:0000005	Mode of inheritance	6833	ABCC8	OMIM:256450
HP:0000005	Mode of inheritance	6833	ABCC8	OMIM:125853
HP:0000005	Mode of inheritance	6833	ABCC8	OMIM:240800
HP:0000005	Mode of inheritance	6833	ABCC8	OMIM:618857
HP:0000005	Mode of inheritance	1028	CDKN1C	OMIM:614732
HP:0000005	Mode of inheritance	1028	CDKN1C	OMIM:130650
HP:0000005	Mode of inheritance	10801	SEPTIN9	OMIM:162100
HP:0000005	Mode of inheritance	84839	RAX2	OMIM:610381
HP:0000005	Mode of inheritance	3651	PDX1	OMIM:606392
HP:0000005	Mode of inheritance	3651	PDX1	OMIM:125853
HP:0000005	Mode of inheritance	4760	NEUROD1	OMIM:606394
HP:0000005	Mode of inheritance	4760	NEUROD1	OMIM:125853
HP:0000005	Mode of inheritance	1080	CFTR	OMIM:167800
HP:0000005	Mode of inheritance	1080	CFTR	OMIM:211400
HP:0000005	Mode of inheritance	11330	CTRC	OMIM:167800
HP:0000005	Mode of inheritance	5645	PRSS2	OMIM:167800
HP:0000005	Mode of inheritance	5644	PRSS1	OMIM:167800
HP:0000005	Mode of inheritance	6690	SPINK1	OMIM:167800
HP:0000005	Mode of inheritance	6690	SPINK1	OMIM:608189
HP:0000005	Mode of inheritance	1294	COL7A1	OMIM:131850
HP:0000005	Mode of inheritance	1294	COL7A1	OMIM:131750
HP:0000005	Mode of inheritance	1294	COL7A1	OMIM:131705
HP:0000005	Mode of inheritance	1294	COL7A1	OMIM:607523
HP:0000005	Mode of inheritance	1294	COL7A1	OMIM:604129
HP:0000005	Mode of inheritance	1294	COL7A1	OMIM:132000
HP:0000005	Mode of inheritance	65055	REEP1	OMIM:614751
HP:0000005	Mode of inheritance	65055	REEP1	OMIM:610250
HP:0000005	Mode of inheritance	23261	CAMTA1	OMIM:614756
HP:0000005	Mode of inheritance	70	ACTC1	OMIM:613424
HP:0000005	Mode of inheritance	70	ACTC1	OMIM:612098
HP:0000005	Mode of inheritance	70	ACTC1	OMIM:612794
HP:0000005	Mode of inheritance	4625	MYH7	OMIM:613426
HP:0000005	Mode of inheritance	4625	MYH7	OMIM:192600
HP:0000005	Mode of inheritance	4625	MYH7	OMIM:160500
HP:0000005	Mode of inheritance	4625	MYH7	OMIM:608358
HP:0000005	Mode of inheritance	2535	FZD2	OMIM:164745
HP:0000005	Mode of inheritance	6949	TCOF1	OMIM:154500
HP:0000005	Mode of inheritance	10133	OPTN	OMIM:613435
HP:0000005	Mode of inheritance	10133	OPTN	OMIM:137760
HP:0000005	Mode of inheritance	1540	CYLD	OMIM:605041
HP:0000005	Mode of inheritance	1540	CYLD	OMIM:132700
HP:0000005	Mode of inheritance	1540	CYLD	OMIM:619132
HP:0000005	Mode of inheritance	1540	CYLD	OMIM:601606
HP:0000005	Mode of inheritance	1376	CPT2	OMIM:255110
HP:0000005	Mode of inheritance	1376	CPT2	OMIM:614212
HP:0000005	Mode of inheritance	22907	DHX30	OMIM:617804
HP:0000005	Mode of inheritance	196528	ARID2	OMIM:617808
HP:0000005	Mode of inheritance	9230	RAB11B	OMIM:617807
HP:0000005	Mode of inheritance	4054	LTBP3	OMIM:617809
HP:0000005	Mode of inheritance	26058	GIGYF2	OMIM:607688
HP:0000005	Mode of inheritance	8048	CSRP3	OMIM:612124
HP:0000005	Mode of inheritance	8048	CSRP3	OMIM:607482
HP:0000005	Mode of inheritance	4747	NEFL	OMIM:607684
HP:0000005	Mode of inheritance	4747	NEFL	OMIM:617882
HP:0000005	Mode of inheritance	4747	NEFL	OMIM:607734
HP:0000005	Mode of inheritance	1959	EGR2	OMIM:607678
HP:0000005	Mode of inheritance	1959	EGR2	OMIM:145900
HP:0000005	Mode of inheritance	1959	EGR2	OMIM:605253
HP:0000005	Mode of inheritance	4646	MYO6	OMIM:606346
HP:0000005	Mode of inheritance	1278	COL1A2	OMIM:617821
HP:0000005	Mode of inheritance	1278	COL1A2	OMIM:259420
HP:0000005	Mode of inheritance	1278	COL1A2	OMIM:166710
HP:0000005	Mode of inheritance	1278	COL1A2	OMIM:619120
HP:0000005	Mode of inheritance	1278	COL1A2	OMIM:166210
HP:0000005	Mode of inheritance	1278	COL1A2	OMIM:166220
HP:0000005	Mode of inheritance	4792	NFKBIA	OMIM:612132
HP:0000005	Mode of inheritance	5447	POR	OMIM:207410
HP:0000005	Mode of inheritance	3861	KRT14	OMIM:131800
HP:0000005	Mode of inheritance	3861	KRT14	OMIM:131760
HP:0000005	Mode of inheritance	3861	KRT14	OMIM:161000
HP:0000005	Mode of inheritance	3861	KRT14	OMIM:131900
HP:0000005	Mode of inheritance	3861	KRT14	OMIM:125595
HP:0000005	Mode of inheritance	2561	GABRB2	OMIM:617829
HP:0000005	Mode of inheritance	54822	TRPM7	OMIM:105500
HP:0000005	Mode of inheritance	25953	PNKD	OMIM:118800
HP:0000005	Mode of inheritance	3930	LBR	OMIM:613471
HP:0000005	Mode of inheritance	3930	LBR	OMIM:169400
HP:0000005	Mode of inheritance	116150	NUS1	OMIM:617831
HP:0000005	Mode of inheritance	6709	SPTAN1	OMIM:613477
HP:0000005	Mode of inheritance	6709	SPTAN1	OMIM:620528
HP:0000005	Mode of inheritance	6709	SPTAN1	OMIM:620538
HP:0000005	Mode of inheritance	6709	SPTAN1	OMIM:620540
HP:0000005	Mode of inheritance	4915	NTRK2	OMIM:617830
HP:0000005	Mode of inheritance	4915	NTRK2	OMIM:613886
HP:0000005	Mode of inheritance	79947	DHDDS	OMIM:617836
HP:0000005	Mode of inheritance	668	FOXL2	OMIM:608996
HP:0000005	Mode of inheritance	668	FOXL2	OMIM:110100
HP:0000005	Mode of inheritance	311	ANXA11	OMIM:617839
HP:0000005	Mode of inheritance	311	ANXA11	OMIM:619733
HP:0000005	Mode of inheritance	5573	PRKAR1A	OMIM:255960
HP:0000005	Mode of inheritance	5573	PRKAR1A	OMIM:101800
HP:0000005	Mode of inheritance	5573	PRKAR1A	OMIM:160980
HP:0000005	Mode of inheritance	5573	PRKAR1A	OMIM:610489
HP:0000005	Mode of inheritance	3762	KCNJ5	OMIM:613485
HP:0000005	Mode of inheritance	3762	KCNJ5	OMIM:613677
HP:0000005	Mode of inheritance	26060	APPL1	OMIM:616511
HP:0000005	Mode of inheritance	88	ACTN2	OMIM:612158
HP:0000005	Mode of inheritance	88	ACTN2	OMIM:618654
HP:0000005	Mode of inheritance	88	ACTN2	OMIM:618655
HP:0000005	Mode of inheritance	81790	RNF170	OMIM:608984
HP:0000005	Mode of inheritance	3848	KRT1	OMIM:607654
HP:0000005	Mode of inheritance	3848	KRT1	OMIM:113800
HP:0000005	Mode of inheritance	3848	KRT1	OMIM:600962
HP:0000005	Mode of inheritance	3848	KRT1	OMIM:620411
HP:0000005	Mode of inheritance	3848	KRT1	OMIM:620148
HP:0000005	Mode of inheritance	3848	KRT1	OMIM:146590
HP:0000005	Mode of inheritance	3892	KRT86	OMIM:158000
HP:0000005	Mode of inheritance	3887	KRT81	OMIM:158000
HP:0000005	Mode of inheritance	3889	KRT83	OMIM:158000
HP:0000005	Mode of inheritance	6812	STXBP1	OMIM:612164
HP:0000005	Mode of inheritance	1213	CLTC	OMIM:617854
HP:0000005	Mode of inheritance	23040	MYT1L	OMIM:616521
HP:0000005	Mode of inheritance	1639	DCTN1	OMIM:607641
HP:0000005	Mode of inheritance	1639	DCTN1	OMIM:105400
HP:0000005	Mode of inheritance	1639	DCTN1	OMIM:168605
HP:0000005	Mode of inheritance	203228	C9orf72	OMIM:105550
HP:0000005	Mode of inheritance	1495	CTNNA1	OMIM:608970
HP:0000005	Mode of inheritance	11235	PDCD10	OMIM:603285
HP:0000005	Mode of inheritance	83605	CCM2	OMIM:603284
HP:0000005	Mode of inheritance	284252	KCTD1	OMIM:181270
HP:0000005	Mode of inheritance	3040	HBA2	OMIM:140700
HP:0000005	Mode of inheritance	3040	HBA2	OMIM:617981
HP:0000005	Mode of inheritance	3039	HBA1	OMIM:140700
HP:0000005	Mode of inheritance	3039	HBA1	OMIM:617973
HP:0000005	Mode of inheritance	3039	HBA1	OMIM:617981
HP:0000005	Mode of inheritance	3043	HBB	OMIM:140700
HP:0000005	Mode of inheritance	3043	HBB	OMIM:603902
HP:0000005	Mode of inheritance	3043	HBB	OMIM:141749
HP:0000005	Mode of inheritance	3043	HBB	OMIM:617971
HP:0000005	Mode of inheritance	3043	HBB	OMIM:617980
HP:0000005	Mode of inheritance	726	CAPN5	OMIM:193235
HP:0000005	Mode of inheritance	3026	HABP2	OMIM:616535
HP:0000005	Mode of inheritance	3026	HABP2	OMIM:188050
HP:0000005	Mode of inheritance	2304	FOXE1	OMIM:616534
HP:0000005	Mode of inheritance	57688	ZSWIM6	OMIM:617865
HP:0000005	Mode of inheritance	57688	ZSWIM6	OMIM:603671
HP:0000005	Mode of inheritance	2893	GRIA4	OMIM:617864
HP:0000005	Mode of inheritance	3661	IRF3	OMIM:616532
HP:0000005	Mode of inheritance	81562	LMAN2L	OMIM:617863
HP:0000005	Mode of inheritance	6620	SNCB	OMIM:127750
HP:0000005	Mode of inheritance	6622	SNCA	OMIM:127750
HP:0000005	Mode of inheritance	6622	SNCA	OMIM:605543
HP:0000005	Mode of inheritance	6622	SNCA	OMIM:168601
HP:0000005	Mode of inheritance	114327	EFHC1	OMIM:607631
HP:0000005	Mode of inheritance	114327	EFHC1	OMIM:254770
HP:0000005	Mode of inheritance	3769	KCNJ13	OMIM:193230
HP:0000005	Mode of inheritance	79053	ALG8	OMIM:617874
HP:0000005	Mode of inheritance	10383	TUBB4B	OMIM:617879
HP:0000005	Mode of inheritance	1285	COL4A3	OMIM:104200
HP:0000005	Mode of inheritance	1285	COL4A3	OMIM:620320
HP:0000005	Mode of inheritance	65057	ACD	OMIM:616553
HP:0000005	Mode of inheritance	2212	FCGR2A	OMIM:152700
HP:0000005	Mode of inheritance	2213	FCGR2B	OMIM:152700
HP:0000005	Mode of inheritance	26191	PTPN22	OMIM:152700
HP:0000005	Mode of inheritance	1773	DNASE1	OMIM:152700
HP:0000005	Mode of inheritance	1453	CSNK1D	OMIM:615224
HP:0000005	Mode of inheritance	6655	SOS2	OMIM:616559
HP:0000005	Mode of inheritance	7439	BEST1	OMIM:193220
HP:0000005	Mode of inheritance	7439	BEST1	OMIM:613194
HP:0000005	Mode of inheritance	7439	BEST1	OMIM:153700
HP:0000005	Mode of inheritance	7072	TIA1	OMIM:604454
HP:0000005	Mode of inheritance	7072	TIA1	OMIM:619133
HP:0000005	Mode of inheritance	1410	CRYAB	OMIM:608810
HP:0000005	Mode of inheritance	1410	CRYAB	OMIM:615184
HP:0000005	Mode of inheritance	1410	CRYAB	OMIM:613763
HP:0000005	Mode of inheritance	23646	PLD3	OMIM:617770
HP:0000005	Mode of inheritance	114548	NLRP3	OMIM:617772
HP:0000005	Mode of inheritance	114548	NLRP3	OMIM:120100
HP:0000005	Mode of inheritance	114548	NLRP3	OMIM:191900
HP:0000005	Mode of inheritance	114548	NLRP3	OMIM:148200
HP:0000005	Mode of inheritance	114548	NLRP3	OMIM:607115
HP:0000005	Mode of inheritance	343450	KCNT2	OMIM:617771
HP:0000005	Mode of inheritance	84433	CARD11	OMIM:616452
HP:0000005	Mode of inheritance	84433	CARD11	OMIM:617638
HP:0000005	Mode of inheritance	8792	TNFRSF11A	OMIM:174810
HP:0000005	Mode of inheritance	8792	TNFRSF11A	OMIM:602080
HP:0000005	Mode of inheritance	51111	KMT5B	OMIM:617788
HP:0000005	Mode of inheritance	55689	YEATS2	OMIM:615127
HP:0000005	Mode of inheritance	80155	NAA15	OMIM:617787
HP:0000005	Mode of inheritance	526	ATP6V1B2	OMIM:616455
HP:0000005	Mode of inheritance	526	ATP6V1B2	OMIM:124480
HP:0000005	Mode of inheritance	1991	ELANE	OMIM:162800
HP:0000005	Mode of inheritance	1991	ELANE	OMIM:202700
HP:0000005	Mode of inheritance	146057	TTBK2	OMIM:604432
HP:0000005	Mode of inheritance	10388	SYCP2	OMIM:258150
HP:0000005	Mode of inheritance	51083	GAL	OMIM:616461
HP:0000005	Mode of inheritance	55870	ASH1L	OMIM:617796
HP:0000005	Mode of inheritance	25885	POLR1A	OMIM:616462
HP:0000005	Mode of inheritance	816	CAMK2B	OMIM:617799
HP:0000005	Mode of inheritance	79797	ZNF408	OMIM:616468
HP:0000005	Mode of inheritance	815	CAMK2A	OMIM:617798
HP:0000005	Mode of inheritance	1441	CSF3R	OMIM:162830
HP:0000005	Mode of inheritance	1303	COL12A1	OMIM:616471
HP:0000005	Mode of inheritance	1303	COL12A1	OMIM:616470
HP:0000005	Mode of inheritance	84173	ELMOD3	OMIM:619500
HP:0000005	Mode of inheritance	1482	NKX2-5	OMIM:225250
HP:0000005	Mode of inheritance	1482	NKX2-5	OMIM:187500
HP:0000005	Mode of inheritance	1482	NKX2-5	OMIM:614432
HP:0000005	Mode of inheritance	1482	NKX2-5	OMIM:614435
HP:0000005	Mode of inheritance	1482	NKX2-5	OMIM:108900
HP:0000005	Mode of inheritance	26057	ANKRD17	OMIM:619504
HP:0000005	Mode of inheritance	9051	PSTPIP1	OMIM:604416
HP:0000005	Mode of inheritance	9051	PSTPIP1	OMIM:601979
HP:0000005	Mode of inheritance	10043	TOM1	OMIM:619510
HP:0000005	Mode of inheritance	1182	CLCN3	OMIM:619512
HP:0000005	Mode of inheritance	63895	PIEZO2	OMIM:114300
HP:0000005	Mode of inheritance	63895	PIEZO2	OMIM:248700
HP:0000005	Mode of inheritance	63895	PIEZO2	OMIM:108145
HP:0000005	Mode of inheritance	1763	DNA2	OMIM:615156
HP:0000005	Mode of inheritance	11012	KLK11	OMIM:620507
HP:0000005	Mode of inheritance	57863	CADM3	OMIM:619519
HP:0000005	Mode of inheritance	6323	SCN1A	OMIM:604403
HP:0000005	Mode of inheritance	6323	SCN1A	OMIM:619317
HP:0000005	Mode of inheritance	6323	SCN1A	OMIM:607208
HP:0000005	Mode of inheritance	6323	SCN1A	OMIM:609634
HP:0000005	Mode of inheritance	79188	TMEM43	OMIM:604400
HP:0000005	Mode of inheritance	79188	TMEM43	OMIM:614302
HP:0000005	Mode of inheritance	79188	TMEM43	OMIM:619832
HP:0000005	Mode of inheritance	10021	HCN4	OMIM:619521
HP:0000005	Mode of inheritance	10021	HCN4	OMIM:163800
HP:0000005	Mode of inheritance	7750	ZMYM2	OMIM:619522
HP:0000005	Mode of inheritance	4669	NAGLU	OMIM:616491
HP:0000005	Mode of inheritance	3630	INS	OMIM:125852
HP:0000005	Mode of inheritance	3630	INS	OMIM:613370
HP:0000005	Mode of inheritance	3630	INS	OMIM:616214
HP:0000005	Mode of inheritance	3630	INS	OMIM:618858
HP:0000005	Mode of inheritance	6934	TCF7L2	OMIM:125853
HP:0000005	Mode of inheritance	3172	HNF4A	OMIM:125853
HP:0000005	Mode of inheritance	3172	HNF4A	OMIM:125850
HP:0000005	Mode of inheritance	3172	HNF4A	OMIM:616026
HP:0000005	Mode of inheritance	3990	LIPC	OMIM:125853
HP:0000005	Mode of inheritance	5506	PPP1R3A	OMIM:125853
HP:0000005	Mode of inheritance	169026	SLC30A8	OMIM:125853
HP:0000005	Mode of inheritance	2820	GPD2	OMIM:125853
HP:0000005	Mode of inheritance	6514	SLC2A2	OMIM:125853
HP:0000005	Mode of inheritance	5770	PTPN1	OMIM:125853
HP:0000005	Mode of inheritance	8660	IRS2	OMIM:125853
HP:0000005	Mode of inheritance	3159	HMGA1	OMIM:125853
HP:0000005	Mode of inheritance	3667	IRS1	OMIM:125853
HP:0000005	Mode of inheritance	9479	MAPK8IP1	OMIM:125853
HP:0000005	Mode of inheritance	4544	MTNR1B	OMIM:125853
HP:0000005	Mode of inheritance	56729	RETN	OMIM:125853
HP:0000005	Mode of inheritance	7466	WFS1	OMIM:125853
HP:0000005	Mode of inheritance	7466	WFS1	OMIM:600965
HP:0000005	Mode of inheritance	7466	WFS1	OMIM:116400
HP:0000005	Mode of inheritance	7466	WFS1	OMIM:614296
HP:0000005	Mode of inheritance	2645	GCK	OMIM:125853
HP:0000005	Mode of inheritance	2645	GCK	OMIM:125851
HP:0000005	Mode of inheritance	2645	GCK	OMIM:602485
HP:0000005	Mode of inheritance	10644	IGF2BP2	OMIM:125853
HP:0000005	Mode of inheritance	2542	SLC37A4	OMIM:619525
HP:0000005	Mode of inheritance	5335	PLCG1	OMIM:620514
HP:0000005	Mode of inheritance	57466	SCAF4	OMIM:620511
HP:0000005	Mode of inheritance	11160	ERLIN2	OMIM:620512
HP:0000005	Mode of inheritance	1690	COCH	OMIM:601369
HP:0000005	Mode of inheritance	57479	PRR12	OMIM:619539
HP:0000005	Mode of inheritance	79651	RHBDF2	OMIM:148500
HP:0000005	Mode of inheritance	3551	IKBKB	OMIM:618204
HP:0000005	Mode of inheritance	1107	CHD3	OMIM:618205
HP:0000005	Mode of inheritance	1832	DSP	OMIM:612908
HP:0000005	Mode of inheritance	1832	DSP	OMIM:615821
HP:0000005	Mode of inheritance	1832	DSP	OMIM:607450
HP:0000005	Mode of inheritance	351	APP	OMIM:605714
HP:0000005	Mode of inheritance	351	APP	OMIM:104300
HP:0000005	Mode of inheritance	6595	SMARCA2	OMIM:601358
HP:0000005	Mode of inheritance	6595	SMARCA2	OMIM:619293
HP:0000005	Mode of inheritance	6261	RYR1	OMIM:619542
HP:0000005	Mode of inheritance	6261	RYR1	OMIM:145600
HP:0000005	Mode of inheritance	6261	RYR1	OMIM:117000
HP:0000005	Mode of inheritance	59345	GNB4	OMIM:615185
HP:0000005	Mode of inheritance	1419	CRYGB	OMIM:615188
HP:0000005	Mode of inheritance	27133	KCNH5	OMIM:620537
HP:0000005	Mode of inheritance	11338	U2AF2	OMIM:620535
HP:0000005	Mode of inheritance	6857	SYT1	OMIM:618218
HP:0000005	Mode of inheritance	6778	STAT6	OMIM:620532
HP:0000005	Mode of inheritance	6909	TBX2	OMIM:618223
HP:0000005	Mode of inheritance	51422	PRKAG2	OMIM:261740
HP:0000005	Mode of inheritance	51422	PRKAG2	OMIM:600858
HP:0000005	Mode of inheritance	51422	PRKAG2	OMIM:194200
HP:0000005	Mode of inheritance	87	ACTN1	OMIM:615193
HP:0000005	Mode of inheritance	30000	TNPO2	OMIM:619556
HP:0000005	Mode of inheritance	359	AQP2	OMIM:125800
HP:0000005	Mode of inheritance	4179	CD46	OMIM:612922
HP:0000005	Mode of inheritance	629	CFB	OMIM:612924
HP:0000005	Mode of inheritance	1277	COL1A1	OMIM:259420
HP:0000005	Mode of inheritance	1277	COL1A1	OMIM:166710
HP:0000005	Mode of inheritance	1277	COL1A1	OMIM:130060
HP:0000005	Mode of inheritance	1277	COL1A1	OMIM:114000
HP:0000005	Mode of inheritance	1277	COL1A1	OMIM:619115
HP:0000005	Mode of inheritance	1277	COL1A1	OMIM:166210
HP:0000005	Mode of inheritance	1277	COL1A1	OMIM:166220
HP:0000005	Mode of inheritance	1277	COL1A1	OMIM:166200
HP:0000005	Mode of inheritance	3426	CFI	OMIM:612923
HP:0000005	Mode of inheritance	3426	CFI	OMIM:615439
HP:0000005	Mode of inheritance	7056	THBD	OMIM:612926
HP:0000005	Mode of inheritance	7056	THBD	OMIM:614486
HP:0000005	Mode of inheritance	718	C3	OMIM:612925
HP:0000005	Mode of inheritance	2627	GATA6	OMIM:600001
HP:0000005	Mode of inheritance	2627	GATA6	OMIM:187500
HP:0000005	Mode of inheritance	2627	GATA6	OMIM:614474
HP:0000005	Mode of inheritance	2627	GATA6	OMIM:614475
HP:0000005	Mode of inheritance	80114	BICC1	OMIM:601331
HP:0000005	Mode of inheritance	7555	CNBP	OMIM:602668
HP:0000005	Mode of inheritance	10659	CELF2	OMIM:619561
HP:0000005	Mode of inheritance	7846	TUBA1A	OMIM:611603
HP:0000005	Mode of inheritance	54471	MIEF1	OMIM:620550
HP:0000005	Mode of inheritance	57551	TAOK1	OMIM:619575
HP:0000005	Mode of inheritance	7170	TPM3	OMIM:609284
HP:0000005	Mode of inheritance	7170	TPM3	OMIM:255310
HP:0000005	Mode of inheritance	7169	TPM2	OMIM:609285
HP:0000005	Mode of inheritance	7169	TPM2	OMIM:108120
HP:0000005	Mode of inheritance	291	SLC25A4	OMIM:609283
HP:0000005	Mode of inheritance	291	SLC25A4	OMIM:617184
HP:0000005	Mode of inheritance	23476	BRD4	OMIM:620568
HP:0000005	Mode of inheritance	55975	KLHL7	OMIM:612943
HP:0000005	Mode of inheritance	56652	TWNK	OMIM:609286
HP:0000005	Mode of inheritance	2898	GRIK2	OMIM:619580
HP:0000005	Mode of inheritance	85366	MYLK2	OMIM:192600
HP:0000005	Mode of inheritance	4624	MYH6	OMIM:192600
HP:0000005	Mode of inheritance	4624	MYH6	OMIM:613251
HP:0000005	Mode of inheritance	4624	MYH6	OMIM:613252
HP:0000005	Mode of inheritance	4624	MYH6	OMIM:614089
HP:0000005	Mode of inheritance	2070	EYA4	OMIM:601316
HP:0000005	Mode of inheritance	2070	EYA4	OMIM:605362
HP:0000005	Mode of inheritance	4647	MYO7A	OMIM:601317
HP:0000005	Mode of inheritance	390594	KBTBD13	OMIM:609273
HP:0000005	Mode of inheritance	151516	ASPRV1	OMIM:146750
HP:0000005	Mode of inheritance	6640	SNTA1	OMIM:612955
HP:0000005	Mode of inheritance	4990	SIX6	OMIM:206900
HP:0000005	Mode of inheritance	6657	SOX2	OMIM:206900
HP:0000005	Mode of inheritance	9531	BAG3	OMIM:612954
HP:0000005	Mode of inheritance	9531	BAG3	OMIM:613881
HP:0000005	Mode of inheritance	2300	FOXL1	OMIM:620576
HP:0000005	Mode of inheritance	1804	DPP6	OMIM:612956
HP:0000005	Mode of inheritance	1804	DPP6	OMIM:616311
HP:0000005	Mode of inheritance	7225	TRPC6	OMIM:603965
HP:0000005	Mode of inheritance	7068	THRB	OMIM:188570
HP:0000005	Mode of inheritance	7068	THRB	OMIM:145650
HP:0000005	Mode of inheritance	55229	PANK4	OMIM:619593
HP:0000005	Mode of inheritance	5530	PPP3CA	OMIM:618265
HP:0000005	Mode of inheritance	5530	PPP3CA	OMIM:617711
HP:0000005	Mode of inheritance	2254	FGF9	OMIM:612961
HP:0000005	Mode of inheritance	2312	FLG	OMIM:146700
HP:0000005	Mode of inheritance	10060	ABCC9	OMIM:239850
HP:0000005	Mode of inheritance	10060	ABCC9	OMIM:608569
HP:0000005	Mode of inheritance	10060	ABCC9	OMIM:614050
HP:0000005	Mode of inheritance	79776	ZFHX4	OMIM:178300
HP:0000005	Mode of inheritance	5375	PMP2	OMIM:618279
HP:0000005	Mode of inheritance	22983	MAST1	OMIM:618273
HP:0000005	Mode of inheritance	745	MYRF	OMIM:618280
HP:0000005	Mode of inheritance	745	MYRF	OMIM:618113
HP:0000005	Mode of inheritance	3549	IHH	OMIM:112500
HP:0000005	Mode of inheritance	7080	NKX2-1	OMIM:188550
HP:0000005	Mode of inheritance	7080	NKX2-1	OMIM:118700
HP:0000005	Mode of inheritance	7080	NKX2-1	OMIM:610978
HP:0000005	Mode of inheritance	777	CACNA1E	OMIM:618285
HP:0000005	Mode of inheritance	4781	NFIB	OMIM:618286
HP:0000005	Mode of inheritance	3851	KRT4	OMIM:193900
HP:0000005	Mode of inheritance	5970	RELA	OMIM:618287
HP:0000005	Mode of inheritance	26580	BSCL2	OMIM:270685
HP:0000005	Mode of inheritance	26580	BSCL2	OMIM:619112
HP:0000005	Mode of inheritance	221692	PHACTR1	OMIM:618298
HP:0000005	Mode of inheritance	23224	SYNE2	OMIM:612999
HP:0000005	Mode of inheritance	23345	SYNE1	OMIM:612998
HP:0000005	Mode of inheritance	10262	SF3B4	OMIM:154400
HP:0000005	Mode of inheritance	375	ARF1	OMIM:618185
HP:0000005	Mode of inheritance	2100	ESR2	OMIM:618187
HP:0000005	Mode of inheritance	400916	CHCHD10	OMIM:615911
HP:0000005	Mode of inheritance	400916	CHCHD10	OMIM:615048
HP:0000005	Mode of inheritance	400916	CHCHD10	OMIM:616209
HP:0000005	Mode of inheritance	5894	RAF1	OMIM:611554
HP:0000005	Mode of inheritance	5894	RAF1	OMIM:611553
HP:0000005	Mode of inheritance	5894	RAF1	OMIM:615916
HP:0000005	Mode of inheritance	6338	SCNN1B	OMIM:211400
HP:0000005	Mode of inheritance	6338	SCNN1B	OMIM:177200
HP:0000005	Mode of inheritance	79755	ZNF750	OMIM:610227
HP:0000005	Mode of inheritance	4000	LMNA	OMIM:176670
HP:0000005	Mode of inheritance	4000	LMNA	OMIM:610140
HP:0000005	Mode of inheritance	4000	LMNA	OMIM:613205
HP:0000005	Mode of inheritance	4000	LMNA	OMIM:151660
HP:0000005	Mode of inheritance	4000	LMNA	OMIM:181350
HP:0000005	Mode of inheritance	4000	LMNA	OMIM:212112
HP:0000005	Mode of inheritance	4000	LMNA	OMIM:115200
HP:0000005	Mode of inheritance	4000	LMNA	OMIM:619793
HP:0000005	Mode of inheritance	3239	HOXD13	OMIM:186000
HP:0000005	Mode of inheritance	3239	HOXD13	OMIM:113300
HP:0000005	Mode of inheritance	3239	HOXD13	OMIM:186300
HP:0000005	Mode of inheritance	3239	HOXD13	OMIM:113200
HP:0000005	Mode of inheritance	9128	PRPF4	OMIM:615922
HP:0000005	Mode of inheritance	4882	NPR2	OMIM:615923
HP:0000005	Mode of inheritance	4882	NPR2	OMIM:616255
HP:0000005	Mode of inheritance	846	CASR	OMIM:612899
HP:0000005	Mode of inheritance	846	CASR	OMIM:239200
HP:0000005	Mode of inheritance	846	CASR	OMIM:601198
HP:0000005	Mode of inheritance	846	CASR	OMIM:145980
HP:0000005	Mode of inheritance	2693	GHSR	OMIM:615925
HP:0000005	Mode of inheritance	2022	ENG	OMIM:187300
HP:0000005	Mode of inheritance	1687	GSDME	OMIM:600994
HP:0000005	Mode of inheritance	1427	CRYGS	OMIM:116100
HP:0000005	Mode of inheritance	1029	CDKN2A	OMIM:155755
HP:0000005	Mode of inheritance	1029	CDKN2A	OMIM:606719
HP:0000005	Mode of inheritance	1029	CDKN2A	OMIM:155601
HP:0000005	Mode of inheritance	340061	STING1	OMIM:615934
HP:0000005	Mode of inheritance	5173	PDYN	OMIM:610245
HP:0000005	Mode of inheritance	10939	AFG3L2	OMIM:610246
HP:0000005	Mode of inheritance	10939	AFG3L2	OMIM:618977
HP:0000005	Mode of inheritance	10000	AKT3	OMIM:615937
HP:0000005	Mode of inheritance	894	CCND2	OMIM:615938
HP:0000005	Mode of inheritance	8289	ARID1A	OMIM:614607
HP:0000005	Mode of inheritance	3849	KRT2	OMIM:146800
HP:0000005	Mode of inheritance	6597	SMARCA4	OMIM:614609
HP:0000005	Mode of inheritance	6597	SMARCA4	OMIM:613325
HP:0000005	Mode of inheritance	6597	SMARCA4	OMIM:620792
HP:0000005	Mode of inheritance	4212	MEIS2	OMIM:600987
HP:0000005	Mode of inheritance	217	ALDH2	OMIM:610251
HP:0000005	Mode of inheritance	6663	SOX10	OMIM:611584
HP:0000005	Mode of inheritance	6663	SOX10	OMIM:609136
HP:0000005	Mode of inheritance	6663	SOX10	OMIM:613266
HP:0000005	Mode of inheritance	5144	PDE4D	OMIM:614613
HP:0000005	Mode of inheritance	1600	DAB1	OMIM:615945
HP:0000005	Mode of inheritance	388551	CEACAM16	OMIM:614614
HP:0000005	Mode of inheritance	4582	MUC1	OMIM:174000
HP:0000005	Mode of inheritance	9152	SLC6A5	OMIM:614618
HP:0000005	Mode of inheritance	283375	SLC39A5	OMIM:615946
HP:0000005	Mode of inheritance	2984	GUCY2C	OMIM:614616
HP:0000005	Mode of inheritance	4292	MLH1	OMIM:609310
HP:0000005	Mode of inheritance	4292	MLH1	OMIM:158320
HP:0000005	Mode of inheritance	2335	FN1	OMIM:184255
HP:0000005	Mode of inheritance	2335	FN1	OMIM:601894
HP:0000005	Mode of inheritance	1938	EEF2	OMIM:609306
HP:0000005	Mode of inheritance	83394	PITPNM3	OMIM:600977
HP:0000005	Mode of inheritance	6774	STAT3	OMIM:615952
HP:0000005	Mode of inheritance	6774	STAT3	OMIM:147060
HP:0000005	Mode of inheritance	8419	BFSP2	OMIM:611597
HP:0000005	Mode of inheritance	8626	TP63	OMIM:129400
HP:0000005	Mode of inheritance	8626	TP63	OMIM:620311
HP:0000005	Mode of inheritance	8626	TP63	OMIM:604292
HP:0000005	Mode of inheritance	8626	TP63	OMIM:603543
HP:0000005	Mode of inheritance	8626	TP63	OMIM:106260
HP:0000005	Mode of inheritance	8626	TP63	OMIM:103285
HP:0000005	Mode of inheritance	8626	TP63	OMIM:605289
HP:0000005	Mode of inheritance	60481	ELOVL5	OMIM:615957
HP:0000005	Mode of inheritance	1299	COL9A3	OMIM:600969
HP:0000005	Mode of inheritance	2908	NR3C1	OMIM:615962
HP:0000005	Mode of inheritance	7148	TNXB	OMIM:615963
HP:0000005	Mode of inheritance	488	ATP2A2	OMIM:101900
HP:0000005	Mode of inheritance	488	ATP2A2	OMIM:124200
HP:0000005	Mode of inheritance	6231	RPS26	OMIM:613309
HP:0000005	Mode of inheritance	6204	RPS10	OMIM:613308
HP:0000005	Mode of inheritance	7369	UMOD	OMIM:162000
HP:0000005	Mode of inheritance	174	AFP	OMIM:615970
HP:0000005	Mode of inheritance	23554	TSPAN12	OMIM:613310
HP:0000005	Mode of inheritance	26022	TMEM98	OMIM:615972
HP:0000005	Mode of inheritance	3459	IFNGR1	OMIM:615978
HP:0000005	Mode of inheritance	611	OPN1SW	OMIM:190900
HP:0000005	Mode of inheritance	27429	HTRA2	OMIM:610297
HP:0000005	Mode of inheritance	5054	SERPINE1	OMIM:613329
HP:0000005	Mode of inheritance	10878	CFHR3	OMIM:235400
HP:0000005	Mode of inheritance	10878	CFHR3	OMIM:603075
HP:0000005	Mode of inheritance	3078	CFHR1	OMIM:235400
HP:0000005	Mode of inheritance	3078	CFHR1	OMIM:603075
HP:0000005	Mode of inheritance	3290	HSD11B1	OMIM:614662
HP:0000005	Mode of inheritance	213	ALB	OMIM:615999
HP:0000005	Mode of inheritance	5332	PLCB4	OMIM:614669
HP:0000005	Mode of inheritance	54205	CYCS	OMIM:612004
HP:0000005	Mode of inheritance	10516	FBLN5	OMIM:608895
HP:0000005	Mode of inheritance	10516	FBLN5	OMIM:614434
HP:0000005	Mode of inheritance	10516	FBLN5	OMIM:619764
HP:0000005	Mode of inheritance	4920	ROR2	OMIM:113000
HP:0000005	Mode of inheritance	6731	SRP72	OMIM:614675
HP:0000005	Mode of inheritance	287	ANK2	OMIM:600919
HP:0000005	Mode of inheritance	3350	HTR1A	OMIM:614674
HP:0000005	Mode of inheritance	387700	SLC16A12	OMIM:612018
HP:0000005	Mode of inheritance	79728	PALB2	OMIM:613348
HP:0000005	Mode of inheritance	79728	PALB2	OMIM:620442
HP:0000005	Mode of inheritance	3784	KCNQ1	OMIM:607554
HP:0000005	Mode of inheritance	3784	KCNQ1	OMIM:130650
HP:0000005	Mode of inheritance	3784	KCNQ1	OMIM:192500
HP:0000005	Mode of inheritance	3784	KCNQ1	OMIM:609621
HP:0000005	Mode of inheritance	7784	ZP3	OMIM:617712
HP:0000005	Mode of inheritance	79628	SH3TC2	OMIM:613353
HP:0000005	Mode of inheritance	4487	MSX1	OMIM:608874
HP:0000005	Mode of inheritance	4487	MSX1	OMIM:189500
HP:0000005	Mode of inheritance	4487	MSX1	OMIM:106600
HP:0000005	Mode of inheritance	7045	TGFBI	OMIM:607541
HP:0000005	Mode of inheritance	7045	TGFBI	OMIM:122200
HP:0000005	Mode of inheritance	7045	TGFBI	OMIM:121820
HP:0000005	Mode of inheritance	7045	TGFBI	OMIM:608470
HP:0000005	Mode of inheritance	7045	TGFBI	OMIM:608471
HP:0000005	Mode of inheritance	7045	TGFBI	OMIM:121900
HP:0000005	Mode of inheritance	7045	TGFBI	OMIM:602082
HP:0000005	Mode of inheritance	7453	WARS1	OMIM:617721
HP:0000005	Mode of inheritance	2006	ELN	OMIM:185500
HP:0000005	Mode of inheritance	2006	ELN	OMIM:123700
HP:0000005	Mode of inheritance	2006	ELN	OMIM:194050
HP:0000005	Mode of inheritance	8988	HSPB3	OMIM:613376
HP:0000005	Mode of inheritance	640	BLK	OMIM:613375
HP:0000005	Mode of inheritance	84617	TUBB6	OMIM:617732
HP:0000005	Mode of inheritance	162514	TRPV3	OMIM:616400
HP:0000005	Mode of inheritance	162514	TRPV3	OMIM:614594
HP:0000005	Mode of inheritance	1917	EEF1A2	OMIM:616409
HP:0000005	Mode of inheritance	1917	EEF1A2	OMIM:616393
HP:0000005	Mode of inheritance	7222	TRPC3	OMIM:616410
HP:0000005	Mode of inheritance	5744	PTHLH	OMIM:613382
HP:0000005	Mode of inheritance	1314	COPA	OMIM:616414
HP:0000005	Mode of inheritance	9213	XPR1	OMIM:616413
HP:0000005	Mode of inheritance	4780	NFE2L2	OMIM:617744
HP:0000005	Mode of inheritance	54805	CNNM2	OMIM:616418
HP:0000005	Mode of inheritance	54805	CNNM2	OMIM:613882
HP:0000005	Mode of inheritance	10342	TFG	OMIM:604484
HP:0000005	Mode of inheritance	4626	MYH8	OMIM:608837
HP:0000005	Mode of inheritance	4626	MYH8	OMIM:158300
HP:0000005	Mode of inheritance	6529	SLC6A1	OMIM:616421
HP:0000005	Mode of inheritance	9320	TRIP12	OMIM:617752
HP:0000005	Mode of inheritance	5879	RAC1	OMIM:617751
HP:0000005	Mode of inheritance	6662	SOX9	OMIM:616425
HP:0000005	Mode of inheritance	6662	SOX9	OMIM:278850
HP:0000005	Mode of inheritance	6662	SOX9	OMIM:114290
HP:0000005	Mode of inheritance	2186	BPTF	OMIM:617755
HP:0000005	Mode of inheritance	2186	BPTF	OMIM:148000
HP:0000005	Mode of inheritance	23435	TARDBP	OMIM:612069
HP:0000005	Mode of inheritance	5950	RBP4	OMIM:616428
HP:0000005	Mode of inheritance	4148	MATN3	OMIM:140600
HP:0000005	Mode of inheritance	4148	MATN3	OMIM:607078
HP:0000005	Mode of inheritance	56606	SLC2A9	OMIM:612076
HP:0000005	Mode of inheritance	359948	IRF2BP2	OMIM:617765
HP:0000005	Mode of inheritance	2196	FAT2	OMIM:617769
HP:0000005	Mode of inheritance	8878	SQSTM1	OMIM:616437
HP:0000005	Mode of inheritance	8878	SQSTM1	OMIM:167250
HP:0000005	Mode of inheritance	8878	SQSTM1	OMIM:617158
HP:0000005	Mode of inheritance	6647	SOD1	OMIM:105400
HP:0000005	Mode of inheritance	5630	PRPH	OMIM:105400
HP:0000005	Mode of inheritance	4744	NEFH	OMIM:105400
HP:0000005	Mode of inheritance	4744	NEFH	OMIM:616924
HP:0000005	Mode of inheritance	2200	FBN1	OMIM:102370
HP:0000005	Mode of inheritance	2200	FBN1	OMIM:604308
HP:0000005	Mode of inheritance	2200	FBN1	OMIM:154700
HP:0000005	Mode of inheritance	2200	FBN1	OMIM:129600
HP:0000005	Mode of inheritance	2200	FBN1	OMIM:616914
HP:0000005	Mode of inheritance	2200	FBN1	OMIM:614185
HP:0000005	Mode of inheritance	2200	FBN1	OMIM:184900
HP:0000005	Mode of inheritance	2200	FBN1	OMIM:608328
HP:0000005	Mode of inheritance	1144	CHRND	OMIM:616321
HP:0000005	Mode of inheritance	6777	STAT5B	OMIM:618985
HP:0000005	Mode of inheritance	5880	RAC2	OMIM:618986
HP:0000005	Mode of inheritance	5880	RAC2	OMIM:608203
HP:0000005	Mode of inheritance	3767	KCNJ11	OMIM:616329
HP:0000005	Mode of inheritance	3767	KCNJ11	OMIM:618856
HP:0000005	Mode of inheritance	3767	KCNJ11	OMIM:610582
HP:0000005	Mode of inheritance	5521	PPP2R2B	OMIM:604326
HP:0000005	Mode of inheritance	3872	KRT17	OMIM:184500
HP:0000005	Mode of inheritance	3872	KRT17	OMIM:167210
HP:0000005	Mode of inheritance	374462	PTPRQ	OMIM:617663
HP:0000005	Mode of inheritance	6616	SNAP25	OMIM:616330
HP:0000005	Mode of inheritance	57582	KCNT1	OMIM:615005
HP:0000005	Mode of inheritance	57582	KCNT1	OMIM:614959
HP:0000005	Mode of inheritance	7532	YWHAG	OMIM:617665
HP:0000005	Mode of inheritance	55690	PACS1	OMIM:615009
HP:0000005	Mode of inheritance	3716	JAK1	OMIM:618999
HP:0000005	Mode of inheritance	219285	SAMD9L	OMIM:159550
HP:0000005	Mode of inheritance	219285	SAMD9L	OMIM:619806
HP:0000005	Mode of inheritance	9885	OSBPL2	OMIM:616340
HP:0000005	Mode of inheritance	55154	MSTO1	OMIM:617675
HP:0000005	Mode of inheritance	7343	UBTF	OMIM:617672
HP:0000005	Mode of inheritance	150094	SIK1	OMIM:616341
HP:0000005	Mode of inheritance	1759	DNM1	OMIM:616346
HP:0000005	Mode of inheritance	6100	RP9	OMIM:180104
HP:0000005	Mode of inheritance	3614	IMPDH1	OMIM:180105
HP:0000005	Mode of inheritance	3614	IMPDH1	OMIM:613837
HP:0000005	Mode of inheritance	4620	MYH2	OMIM:605637
HP:0000005	Mode of inheritance	1420	CRYGC	OMIM:604307
HP:0000005	Mode of inheritance	6926	TBX3	OMIM:181450
HP:0000005	Mode of inheritance	10087	CERT1	OMIM:616351
HP:0000005	Mode of inheritance	1105	CHD1	OMIM:617682
HP:0000005	Mode of inheritance	1500	CTNND1	OMIM:617681
HP:0000005	Mode of inheritance	5528	PPP2R5D	OMIM:616355
HP:0000005	Mode of inheritance	1428	CRYM	OMIM:616357
HP:0000005	Mode of inheritance	55526	DHTKD1	OMIM:615025
HP:0000005	Mode of inheritance	55065	SLC52A1	OMIM:615026
HP:0000005	Mode of inheritance	26040	SETBP1	OMIM:269150
HP:0000005	Mode of inheritance	26040	SETBP1	OMIM:616078
HP:0000005	Mode of inheritance	9241	NOG	OMIM:185800
HP:0000005	Mode of inheritance	9241	NOG	OMIM:611377
HP:0000005	Mode of inheritance	9241	NOG	OMIM:184460
HP:0000005	Mode of inheritance	9241	NOG	OMIM:186570
HP:0000005	Mode of inheritance	9241	NOG	OMIM:186500
HP:0000005	Mode of inheritance	5518	PPP2R1A	OMIM:616362
HP:0000005	Mode of inheritance	2911	GRM1	OMIM:617691
HP:0000005	Mode of inheritance	3737	KCNA2	OMIM:616366
HP:0000005	Mode of inheritance	23126	POGZ	OMIM:616364
HP:0000005	Mode of inheritance	2162	F13A1	OMIM:188050
HP:0000005	Mode of inheritance	4524	MTHFR	OMIM:188050
HP:0000005	Mode of inheritance	4524	MTHFR	OMIM:181500
HP:0000005	Mode of inheritance	27125	AFF4	OMIM:616368
HP:0000005	Mode of inheritance	1909	EDNRA	OMIM:616367
HP:0000005	Mode of inheritance	1909	EDNRA	OMIM:157300
HP:0000005	Mode of inheritance	58	ACTA1	OMIM:161800
HP:0000005	Mode of inheritance	58	ACTA1	OMIM:620278
HP:0000005	Mode of inheritance	58	ACTA1	OMIM:616852
HP:0000005	Mode of inheritance	6101	RP1	OMIM:180100
HP:0000005	Mode of inheritance	7075	TIE1	OMIM:619401
HP:0000005	Mode of inheritance	8989	TRPA1	OMIM:615040
HP:0000005	Mode of inheritance	80206	FHOD3	OMIM:619402
HP:0000005	Mode of inheritance	326	AIRE	OMIM:240300
HP:0000005	Mode of inheritance	5741	PTH	OMIM:146200
HP:0000005	Mode of inheritance	6635	SNRPE	OMIM:615059
HP:0000005	Mode of inheritance	6578	SLCO2A1	OMIM:167100
HP:0000005	Mode of inheritance	55505	NOP10	OMIM:620400
HP:0000005	Mode of inheritance	5959	RDH5	OMIM:136880
HP:0000005	Mode of inheritance	6017	RLBP1	OMIM:136880
HP:0000005	Mode of inheritance	3752	KCND3	OMIM:616399
HP:0000005	Mode of inheritance	3752	KCND3	OMIM:607346
HP:0000005	Mode of inheritance	79734	KCTD17	OMIM:616398
HP:0000005	Mode of inheritance	2202	EFEMP1	OMIM:126600
HP:0000005	Mode of inheritance	2202	EFEMP1	OMIM:611276
HP:0000005	Mode of inheritance	171546	SPTSSA	OMIM:620416
HP:0000005	Mode of inheritance	7227	TRPS1	OMIM:190350
HP:0000005	Mode of inheritance	7227	TRPS1	OMIM:190351
HP:0000005	Mode of inheritance	1642	DDB1	OMIM:619426
HP:0000005	Mode of inheritance	81603	TRIM8	OMIM:619428
HP:0000005	Mode of inheritance	8322	FZD4	OMIM:133780
HP:0000005	Mode of inheritance	57459	GATAD2B	OMIM:615074
HP:0000005	Mode of inheritance	2774	GNAL	OMIM:615073
HP:0000005	Mode of inheritance	56896	DPYSL5	OMIM:619435
HP:0000005	Mode of inheritance	72	ACTG2	OMIM:619431
HP:0000005	Mode of inheritance	72	ACTG2	OMIM:155310
HP:0000005	Mode of inheritance	6418	SET	OMIM:618106
HP:0000005	Mode of inheritance	22806	IKZF3	OMIM:619437
HP:0000005	Mode of inheritance	9842	PLEKHM1	OMIM:618107
HP:0000005	Mode of inheritance	23078	VWA8	OMIM:620422
HP:0000005	Mode of inheritance	4838	NODAL	OMIM:270100
HP:0000005	Mode of inheritance	317719	KLHL10	OMIM:615081
HP:0000005	Mode of inheritance	6299	SALL1	OMIM:107480
HP:0000005	Mode of inheritance	1747	DLX3	OMIM:190320
HP:0000005	Mode of inheritance	1747	DLX3	OMIM:104510
HP:0000005	Mode of inheritance	5426	POLE	OMIM:615083
HP:0000005	Mode of inheritance	6340	SCNN1G	OMIM:618114
HP:0000005	Mode of inheritance	6340	SCNN1G	OMIM:613071
HP:0000005	Mode of inheritance	402381	SOHLH1	OMIM:618115
HP:0000005	Mode of inheritance	23524	SRRM2	OMIM:620439
HP:0000005	Mode of inheritance	3064	HTT	OMIM:143100
HP:0000005	Mode of inheritance	57534	MIB1	OMIM:615092
HP:0000005	Mode of inheritance	6337	SCNN1A	OMIM:618126
HP:0000005	Mode of inheritance	6337	SCNN1A	OMIM:613021
HP:0000005	Mode of inheritance	3756	KCNH1	OMIM:135500
HP:0000005	Mode of inheritance	3756	KCNH1	OMIM:611816
HP:0000005	Mode of inheritance	8622	PDE8B	OMIM:609161
HP:0000005	Mode of inheritance	8622	PDE8B	OMIM:614190
HP:0000005	Mode of inheritance	51704	GPRC5B	OMIM:620447
HP:0000005	Mode of inheritance	361	AQP4	OMIM:620448
HP:0000005	Mode of inheritance	825	CAPN3	OMIM:618129
HP:0000005	Mode of inheritance	6775	STAT4	OMIM:620443
HP:0000005	Mode of inheritance	344167	FOXI3	OMIM:620444
HP:0000005	Mode of inheritance	6045	RNF2	OMIM:619460
HP:0000005	Mode of inheritance	4627	MYH9	OMIM:155100
HP:0000005	Mode of inheritance	4627	MYH9	OMIM:603622
HP:0000005	Mode of inheritance	22852	ANKRD26	OMIM:188000
HP:0000005	Mode of inheritance	164	AP1G1	OMIM:619467
HP:0000005	Mode of inheritance	1814	DRD3	OMIM:190300
HP:0000005	Mode of inheritance	1814	DRD3	OMIM:181500
HP:0000005	Mode of inheritance	10058	ABCB6	OMIM:609153
HP:0000005	Mode of inheritance	10058	ABCB6	OMIM:614497
HP:0000005	Mode of inheritance	10058	ABCB6	OMIM:615402
HP:0000005	Mode of inheritance	56980	PRDM10	OMIM:620459
HP:0000005	Mode of inheritance	9734	HDAC9	OMIM:620457
HP:0000005	Mode of inheritance	1974	EIF4A2	OMIM:620455
HP:0000005	Mode of inheritance	29967	LRP12	OMIM:620452
HP:0000005	Mode of inheritance	29967	LRP12	OMIM:164310
HP:0000005	Mode of inheritance	6874	TAF4	OMIM:620450
HP:0000005	Mode of inheritance	79736	TEFM	OMIM:620451
HP:0000005	Mode of inheritance	5137	PDE1C	OMIM:618140
HP:0000005	Mode of inheritance	8812	CCNK	OMIM:618147
HP:0000005	Mode of inheritance	3236	HOXD10	OMIM:192950
HP:0000005	Mode of inheritance	23316	CUX2	OMIM:618141
HP:0000005	Mode of inheritance	100996717	NOTCH2NLC	OMIM:619473
HP:0000005	Mode of inheritance	100996717	NOTCH2NLC	OMIM:618866
HP:0000005	Mode of inheritance	100996717	NOTCH2NLC	OMIM:603472
HP:0000005	Mode of inheritance	6711	SPTBN1	OMIM:619475
HP:0000005	Mode of inheritance	6935	ZEB1	OMIM:609141
HP:0000005	Mode of inheritance	1296	COL8A2	OMIM:609140
HP:0000005	Mode of inheritance	1296	COL8A2	OMIM:136800
HP:0000005	Mode of inheritance	79574	EPS8L3	OMIM:612841
HP:0000005	Mode of inheritance	4436	MSH2	OMIM:120435
HP:0000005	Mode of inheritance	4436	MSH2	OMIM:158320
HP:0000005	Mode of inheritance	5378	PMS1	OMIM:120435
HP:0000005	Mode of inheritance	527	ATP6V0C	OMIM:620465
HP:0000005	Mode of inheritance	10413	YAP1	OMIM:120433
HP:0000005	Mode of inheritance	3181	HNRNPA2B1	OMIM:620460
HP:0000005	Mode of inheritance	3181	HNRNPA2B1	OMIM:615422
HP:0000005	Mode of inheritance	11198	SUPT16H	OMIM:619480
HP:0000005	Mode of inheritance	1412	CRYBA2	OMIM:115900
HP:0000005	Mode of inheritance	25839	COG4	OMIM:618150
HP:0000005	Mode of inheritance	5058	PAK1	OMIM:618158
HP:0000005	Mode of inheritance	23385	NCSTN	OMIM:142690
HP:0000005	Mode of inheritance	7066	THPO	OMIM:620478
HP:0000005	Mode of inheritance	7066	THPO	OMIM:187950
HP:0000005	Mode of inheritance	3145	HMBS	OMIM:176000
HP:0000005	Mode of inheritance	3728	JUP	OMIM:611528
HP:0000005	Mode of inheritance	3921	RPSA	OMIM:271400
HP:0000005	Mode of inheritance	5660	PSAP	OMIM:619491
HP:0000005	Mode of inheritance	25978	CHMP2B	OMIM:600795
HP:0000005	Mode of inheritance	81624	DIAPH3	OMIM:609129
HP:0000005	Mode of inheritance	5745	PTH1R	OMIM:156400
HP:0000005	Mode of inheritance	5745	PTH1R	OMIM:125350
HP:0000005	Mode of inheritance	4221	MEN1	OMIM:131100
HP:0000005	Mode of inheritance	84231	TRAF7	OMIM:618164
HP:0000005	Mode of inheritance	116519	APOA5	OMIM:145750
HP:0000005	Mode of inheritance	116519	APOA5	OMIM:144650
HP:0000005	Mode of inheritance	4094	MAF	OMIM:610202
HP:0000005	Mode of inheritance	4094	MAF	OMIM:601088
HP:0000005	Mode of inheritance	4853	NOTCH2	OMIM:610205
HP:0000005	Mode of inheritance	4853	NOTCH2	OMIM:102500
HP:0000005	Mode of inheritance	7171	TPM4	OMIM:620486
HP:0000005	Mode of inheritance	403	ARL3	OMIM:618173
HP:0000005	Mode of inheritance	4921	DDR2	OMIM:618175
HP:0000005	Mode of inheritance	4327	MMP19	OMIM:611543
HP:0000005	Mode of inheritance	1414	CRYBB1	OMIM:611544
HP:0000005	Mode of inheritance	1584	CYP11B1	OMIM:103900
HP:0000005	Mode of inheritance	135935	NOBOX	OMIM:611548
HP:0000005	Mode of inheritance	9898	UBAP2L	OMIM:620494
HP:0000005	Mode of inheritance	7424	VEGFC	OMIM:615907
HP:0000005	Mode of inheritance	6095	RORA	OMIM:618060
HP:0000005	Mode of inheritance	51726	DNAJB11	OMIM:618061
HP:0000005	Mode of inheritance	677814	SNORA31	OMIM:619396
HP:0000005	Mode of inheritance	23241	PACS2	OMIM:618067
HP:0000005	Mode of inheritance	161742	SPRED1	OMIM:611431
HP:0000005	Mode of inheritance	50717	DCAF8	OMIM:610100
HP:0000005	Mode of inheritance	7138	TNNT1	OMIM:620389
HP:0000005	Mode of inheritance	9839	ZEB2	OMIM:235730
HP:0000005	Mode of inheritance	1411	CRYBA1	OMIM:600881
HP:0000005	Mode of inheritance	7879	RAB7A	OMIM:600882
HP:0000005	Mode of inheritance	27327	TNRC6A	OMIM:618074
HP:0000005	Mode of inheritance	2512	FTL	OMIM:600886
HP:0000005	Mode of inheritance	2512	FTL	OMIM:606159
HP:0000005	Mode of inheritance	2512	FTL	OMIM:615604
HP:0000005	Mode of inheritance	9693	RAPGEF2	OMIM:618075
HP:0000005	Mode of inheritance	10225	CD96	OMIM:211750
HP:0000005	Mode of inheritance	200576	PIKFYVE	OMIM:121850
HP:0000005	Mode of inheritance	1301	COL11A1	OMIM:154780
HP:0000005	Mode of inheritance	1301	COL11A1	OMIM:604841
HP:0000005	Mode of inheritance	1301	COL11A1	OMIM:618533
HP:0000005	Mode of inheritance	6005	RHAG	OMIM:185000
HP:0000005	Mode of inheritance	6005	RHAG	OMIM:268150
HP:0000005	Mode of inheritance	8913	CACNA1G	OMIM:618087
HP:0000005	Mode of inheritance	8913	CACNA1G	OMIM:616795
HP:0000005	Mode of inheritance	64207	IRF2BPL	OMIM:618088
HP:0000005	Mode of inheritance	80204	FBXO11	OMIM:618089
HP:0000005	Mode of inheritance	23522	KAT6B	OMIM:606170
HP:0000005	Mode of inheritance	23522	KAT6B	OMIM:603736
HP:0000005	Mode of inheritance	9149	DYRK1B	OMIM:615812
HP:0000005	Mode of inheritance	5015	OTX2	OMIM:610125
HP:0000005	Mode of inheritance	5015	OTX2	OMIM:613986
HP:0000005	Mode of inheritance	9499	MYOT	OMIM:609200
HP:0000005	Mode of inheritance	10273	STUB1	OMIM:618093
HP:0000005	Mode of inheritance	64919	BCL11B	OMIM:618092
HP:0000005	Mode of inheritance	64919	BCL11B	OMIM:617237
HP:0000005	Mode of inheritance	6885	MAP3K7	OMIM:157800
HP:0000005	Mode of inheritance	6885	MAP3K7	OMIM:617137
HP:0000005	Mode of inheritance	11232	POLG2	OMIM:610131
HP:0000005	Mode of inheritance	1729	DIAPH1	OMIM:124900
HP:0000005	Mode of inheritance	1906	EDN1	OMIM:612798
HP:0000005	Mode of inheritance	10522	DEAF1	OMIM:615828
HP:0000005	Mode of inheritance	27245	AHDC1	OMIM:615829
HP:0000005	Mode of inheritance	6234	RPS28	OMIM:606164
HP:0000005	Mode of inheritance	5625	PRODH	OMIM:600850
HP:0000005	Mode of inheritance	7168	TPM1	OMIM:115196
HP:0000005	Mode of inheritance	7168	TPM1	OMIM:611878
HP:0000005	Mode of inheritance	4607	MYBPC3	OMIM:115197
HP:0000005	Mode of inheritance	4607	MYBPC3	OMIM:615396
HP:0000005	Mode of inheritance	5566	PRKACA	OMIM:615830
HP:0000005	Mode of inheritance	5566	PRKACA	OMIM:619142
HP:0000005	Mode of inheritance	26053	AUTS2	OMIM:615834
HP:0000005	Mode of inheritance	8557	TCAP	OMIM:607487
HP:0000005	Mode of inheritance	29914	UBIAD1	OMIM:121800
HP:0000005	Mode of inheritance	799	CALCR	OMIM:166710
HP:0000005	Mode of inheritance	8572	PDLIM4	OMIM:166710
HP:0000005	Mode of inheritance	2896	GRN	OMIM:607485
HP:0000005	Mode of inheritance	866	SERPINA6	OMIM:611489
HP:0000005	Mode of inheritance	9992	KCNE2	OMIM:611493
HP:0000005	Mode of inheritance	9992	KCNE2	OMIM:613693
HP:0000005	Mode of inheritance	2146	EZH2	OMIM:277590
HP:0000005	Mode of inheritance	1302	COL11A2	OMIM:614524
HP:0000005	Mode of inheritance	1302	COL11A2	OMIM:601868
HP:0000005	Mode of inheritance	1302	COL11A2	OMIM:184840
HP:0000005	Mode of inheritance	50511	SYCP3	OMIM:270960
HP:0000005	Mode of inheritance	80331	DNAJC5	OMIM:162350
HP:0000005	Mode of inheritance	29123	ANKRD11	OMIM:148050
HP:0000005	Mode of inheritance	2303	FOXC2	OMIM:153400
HP:0000005	Mode of inheritance	6664	SOX11	OMIM:615866
HP:0000005	Mode of inheritance	339453	TMEM240	OMIM:607454
HP:0000005	Mode of inheritance	152137	CCDC50	OMIM:607453
HP:0000005	Mode of inheritance	23592	LEMD3	OMIM:166700
HP:0000005	Mode of inheritance	6524	SLC5A2	OMIM:233100
HP:0000005	Mode of inheritance	5979	RET	OMIM:162300
HP:0000005	Mode of inheritance	5979	RET	OMIM:142623
HP:0000005	Mode of inheritance	5979	RET	OMIM:171400
HP:0000005	Mode of inheritance	5979	RET	OMIM:171300
HP:0000005	Mode of inheritance	5979	RET	OMIM:155240
HP:0000005	Mode of inheritance	7026	NR2F2	OMIM:618901
HP:0000005	Mode of inheritance	7026	NR2F2	OMIM:615779
HP:0000005	Mode of inheritance	23394	ADNP	OMIM:615873
HP:0000005	Mode of inheritance	10586	MAB21L2	OMIM:615877
HP:0000005	Mode of inheritance	26115	TANC2	OMIM:618906
HP:0000005	Mode of inheritance	8091	HMGA2	OMIM:618908
HP:0000005	Mode of inheritance	724066	ATXN8	OMIM:608768
HP:0000005	Mode of inheritance	1829	DSG2	OMIM:610193
HP:0000005	Mode of inheritance	5244	ABCB4	OMIM:600803
HP:0000005	Mode of inheritance	5244	ABCB4	OMIM:614972
HP:0000005	Mode of inheritance	6144	RPL21	OMIM:615885
HP:0000005	Mode of inheritance	23291	FBXW11	OMIM:618914
HP:0000005	Mode of inheritance	84876	ORAI1	OMIM:615883
HP:0000005	Mode of inheritance	4363	ABCC1	OMIM:618915
HP:0000005	Mode of inheritance	23097	CDK19	OMIM:618916
HP:0000005	Mode of inheritance	2891	GRIA2	OMIM:618917
HP:0000005	Mode of inheritance	4131	MAP1B	OMIM:618918
HP:0000005	Mode of inheritance	4131	MAP1B	OMIM:619808
HP:0000005	Mode of inheritance	348	APOE	OMIM:603075
HP:0000005	Mode of inheritance	348	APOE	OMIM:606889
HP:0000005	Mode of inheritance	348	APOE	OMIM:104310
HP:0000005	Mode of inheritance	348	APOE	OMIM:607822
HP:0000005	Mode of inheritance	83872	HMCN1	OMIM:603075
HP:0000005	Mode of inheritance	4633	MYL2	OMIM:608758
HP:0000005	Mode of inheritance	112802	KRT71	OMIM:615896
HP:0000005	Mode of inheritance	6326	SCN2A	OMIM:618924
HP:0000005	Mode of inheritance	6326	SCN2A	OMIM:613721
HP:0000005	Mode of inheritance	6326	SCN2A	OMIM:607745
HP:0000005	Mode of inheritance	1778	DYNC1H1	OMIM:614563
HP:0000005	Mode of inheritance	1778	DYNC1H1	OMIM:614228
HP:0000005	Mode of inheritance	1778	DYNC1H1	OMIM:158600
HP:0000005	Mode of inheritance	545	ATR	OMIM:614564
HP:0000005	Mode of inheritance	64423	INF2	OMIM:613237
HP:0000005	Mode of inheritance	64423	INF2	OMIM:614455
HP:0000005	Mode of inheritance	1000	CDH2	OMIM:618920
HP:0000005	Mode of inheritance	1000	CDH2	OMIM:618929
HP:0000005	Mode of inheritance	100134444	KCNJ18	OMIM:613239
HP:0000005	Mode of inheritance	4634	MYL3	OMIM:608751
HP:0000005	Mode of inheritance	23746	AIPL1	OMIM:604393
HP:0000005	Mode of inheritance	23746	AIPL1	OMIM:268000
HP:0000005	Mode of inheritance	4072	EPCAM	OMIM:613244
HP:0000005	Mode of inheritance	56479	KCNQ5	OMIM:617601
HP:0000005	Mode of inheritance	7134	TNNC1	OMIM:613243
HP:0000005	Mode of inheritance	7134	TNNC1	OMIM:611879
HP:0000005	Mode of inheritance	23152	CIC	OMIM:617600
HP:0000005	Mode of inheritance	80736	SLC44A4	OMIM:617606
HP:0000005	Mode of inheritance	23312	DMXL2	OMIM:617605
HP:0000005	Mode of inheritance	401138	AMTN	OMIM:617607
HP:0000005	Mode of inheritance	84172	POLR1B	OMIM:618939
HP:0000005	Mode of inheritance	10755	GIPC1	OMIM:618940
HP:0000005	Mode of inheritance	71	ACTG1	OMIM:614583
HP:0000005	Mode of inheritance	71	ACTG1	OMIM:604717
HP:0000005	Mode of inheritance	7414	VCL	OMIM:613255
HP:0000005	Mode of inheritance	7414	VCL	OMIM:611407
HP:0000005	Mode of inheritance	3458	IFNG	OMIM:613254
HP:0000005	Mode of inheritance	5333	PLCD1	OMIM:151600
HP:0000005	Mode of inheritance	80232	WDR26	OMIM:617616
HP:0000005	Mode of inheritance	10699	CORIN	OMIM:614595
HP:0000005	Mode of inheritance	1908	EDN3	OMIM:613265
HP:0000005	Mode of inheritance	1908	EDN3	OMIM:613712
HP:0000005	Mode of inheritance	83959	SLC4A11	OMIM:613268
HP:0000005	Mode of inheritance	2625	GATA3	OMIM:146255
HP:0000005	Mode of inheritance	6925	TCF4	OMIM:613267
HP:0000005	Mode of inheritance	6925	TCF4	OMIM:610954
HP:0000005	Mode of inheritance	5978	REST	OMIM:617626
HP:0000005	Mode of inheritance	5978	REST	OMIM:612431
HP:0000005	Mode of inheritance	5978	REST	OMIM:616806
HP:0000005	Mode of inheritance	9371	KIF3B	OMIM:618955
HP:0000005	Mode of inheritance	1123	CHN1	OMIM:604356
HP:0000005	Mode of inheritance	51	ACOX1	OMIM:618960
HP:0000005	Mode of inheritance	10020	GNE	OMIM:269921
HP:0000005	Mode of inheritance	10274	STAG1	OMIM:617635
HP:0000005	Mode of inheritance	10625	IVNS1ABP	OMIM:618969
HP:0000005	Mode of inheritance	84059	ADGRV1	OMIM:604352
HP:0000005	Mode of inheritance	8864	PER2	OMIM:604348
HP:0000005	Mode of inheritance	56916	SMARCAD1	OMIM:136000
HP:0000005	Mode of inheritance	56916	SMARCAD1	OMIM:181600
HP:0000005	Mode of inheritance	56916	SMARCAD1	OMIM:129200
HP:0000005	Mode of inheritance	87178	PNPT1	OMIM:608703
HP:0000005	Mode of inheritance	55553	SOX6	OMIM:618971
HP:0000005	Mode of inheritance	5087	PBX1	OMIM:617641
HP:0000005	Mode of inheritance	7137	TNNI3	OMIM:613286
HP:0000005	Mode of inheritance	7137	TNNI3	OMIM:115210
HP:0000005	Mode of inheritance	7137	TNNI3	OMIM:613690
HP:0000005	Mode of inheritance	1140	CHRNB1	OMIM:616313
HP:0000005	Mode of inheritance	84148	KAT8	OMIM:618974
HP:0000005	Mode of inheritance	6786	STIM1	OMIM:160565
HP:0000005	Mode of inheritance	6786	STIM1	OMIM:185070
HP:0000005	Mode of inheritance	114902	C1QTNF5	OMIM:605670
HP:0000005	Mode of inheritance	5274	SERPINI1	OMIM:604218
HP:0000005	Mode of inheritance	1409	CRYAA	OMIM:604219
HP:0000005	Mode of inheritance	282996	RBM20	OMIM:613172
HP:0000005	Mode of inheritance	5350	PLN	OMIM:609909
HP:0000005	Mode of inheritance	5350	PLN	OMIM:613874
HP:0000005	Mode of inheritance	85446	ZFHX2	OMIM:147430
HP:0000005	Mode of inheritance	7277	TUBA4A	OMIM:616208
HP:0000005	Mode of inheritance	3008	H1-4	OMIM:617537
HP:0000005	Mode of inheritance	116931	MED12L	OMIM:618872
HP:0000005	Mode of inheritance	387119	CEP85L	OMIM:618873
HP:0000005	Mode of inheritance	23022	PALLD	OMIM:606856
HP:0000005	Mode of inheritance	80781	COL18A1	OMIM:618880
HP:0000005	Mode of inheritance	7528	YY1	OMIM:617557
HP:0000005	Mode of inheritance	8726	EED	OMIM:617561
HP:0000005	Mode of inheritance	153201	SLC36A2	OMIM:138500
HP:0000005	Mode of inheritance	844	CASQ1	OMIM:616231
HP:0000005	Mode of inheritance	2773	GNAI3	OMIM:602483
HP:0000005	Mode of inheritance	2296	FOXC1	OMIM:602482
HP:0000005	Mode of inheritance	2296	FOXC1	OMIM:601631
HP:0000005	Mode of inheritance	610	HCN2	OMIM:602477
HP:0000005	Mode of inheritance	805	CALM2	OMIM:616249
HP:0000005	Mode of inheritance	801	CALM1	OMIM:616247
HP:0000005	Mode of inheritance	801	CALM1	OMIM:614916
HP:0000005	Mode of inheritance	4040	LRP6	OMIM:610947
HP:0000005	Mode of inheritance	4040	LRP6	OMIM:616724
HP:0000005	Mode of inheritance	3859	KRT12	OMIM:122100
HP:0000005	Mode of inheritance	7276	TTR	OMIM:145680
HP:0000005	Mode of inheritance	7276	TTR	OMIM:105210
HP:0000005	Mode of inheritance	7276	TTR	OMIM:115430
HP:0000005	Mode of inheritance	5459	POU4F3	OMIM:602459
HP:0000005	Mode of inheritance	54941	RNF125	OMIM:616260
HP:0000005	Mode of inheritance	259232	NALCN	OMIM:616266
HP:0000005	Mode of inheritance	7994	KAT6A	OMIM:616268
HP:0000005	Mode of inheritance	387733	IFITM5	OMIM:610967
HP:0000005	Mode of inheritance	255738	PCSK9	OMIM:603776
HP:0000005	Mode of inheritance	146862	UNC45B	OMIM:616279
HP:0000005	Mode of inheritance	146862	UNC45B	OMIM:619178
HP:0000005	Mode of inheritance	23064	SETX	OMIM:602433
HP:0000005	Mode of inheritance	4141	MARS1	OMIM:616280
HP:0000005	Mode of inheritance	5898	RALA	OMIM:619311
HP:0000005	Mode of inheritance	23013	SPEN	OMIM:619312
HP:0000005	Mode of inheritance	126129	CPT1C	OMIM:616282
HP:0000005	Mode of inheritance	6477	SIAH1	OMIM:619314
HP:0000005	Mode of inheritance	9620	CELSR1	OMIM:619319
HP:0000005	Mode of inheritance	6091	ROBO1	OMIM:620303
HP:0000005	Mode of inheritance	221496	LEMD2	OMIM:619322
HP:0000005	Mode of inheritance	117581	TWIST2	OMIM:200110
HP:0000005	Mode of inheritance	117581	TWIST2	OMIM:209885
HP:0000005	Mode of inheritance	84699	CREB3L3	OMIM:619324
HP:0000005	Mode of inheritance	29998	BICRA	OMIM:619325
HP:0000005	Mode of inheritance	23586	RIGI	OMIM:616298
HP:0000005	Mode of inheritance	23030	KDM4B	OMIM:619320
HP:0000005	Mode of inheritance	5010	CLDN11	OMIM:619328
HP:0000005	Mode of inheritance	1289	COL5A1	OMIM:619329
HP:0000005	Mode of inheritance	1289	COL5A1	OMIM:130000
HP:0000005	Mode of inheritance	23221	RHOBTB2	OMIM:618004
HP:0000005	Mode of inheritance	5318	PKP2	OMIM:609040
HP:0000005	Mode of inheritance	84188	FAR1	OMIM:619338
HP:0000005	Mode of inheritance	26999	CYFIP2	OMIM:618008
HP:0000005	Mode of inheritance	9969	MED13	OMIM:618009
HP:0000005	Mode of inheritance	2253	FGF8	OMIM:612702
HP:0000005	Mode of inheritance	1019	CDK4	OMIM:609048
HP:0000005	Mode of inheritance	27032	ATP2C1	OMIM:169600
HP:0000005	Mode of inheritance	1828	DSG1	OMIM:148700
HP:0000005	Mode of inheritance	5428	POLG	OMIM:157640
HP:0000005	Mode of inheritance	10845	CLPX	OMIM:618015
HP:0000005	Mode of inheritance	4905	NSF	OMIM:619340
HP:0000005	Mode of inheritance	523	ATP6V1A	OMIM:618012
HP:0000005	Mode of inheritance	145226	RDH12	OMIM:612712
HP:0000005	Mode of inheritance	6697	SPR	OMIM:612716
HP:0000005	Mode of inheritance	64864	RFX7	OMIM:620330
HP:0000005	Mode of inheritance	4629	MYH11	OMIM:619350
HP:0000005	Mode of inheritance	4629	MYH11	OMIM:132900
HP:0000005	Mode of inheritance	5977	DPF2	OMIM:618027
HP:0000005	Mode of inheritance	5457	POU4F1	OMIM:619352
HP:0000005	Mode of inheritance	9094	UNC119	OMIM:620342
HP:0000005	Mode of inheritance	9094	UNC119	OMIM:615518
HP:0000005	Mode of inheritance	5340	PLG	OMIM:619360
HP:0000005	Mode of inheritance	284	ANGPT1	OMIM:619361
HP:0000005	Mode of inheritance	26509	MYOF	OMIM:619366
HP:0000005	Mode of inheritance	64711	HS3ST6	OMIM:619367
HP:0000005	Mode of inheritance	285	ANGPT2	OMIM:619369
HP:0000005	Mode of inheritance	79977	GRHL2	OMIM:618031
HP:0000005	Mode of inheritance	79977	GRHL2	OMIM:608641
HP:0000005	Mode of inheritance	3827	KNG1	OMIM:619363
HP:0000005	Mode of inheritance	498	ATP5F1A	OMIM:620358
HP:0000005	Mode of inheritance	51371	POMP	OMIM:618048
HP:0000005	Mode of inheritance	23154	NCDN	OMIM:619373
HP:0000005	Mode of inheritance	4938	OAS1	OMIM:618042
HP:0000005	Mode of inheritance	8651	SOCS1	OMIM:619375
HP:0000005	Mode of inheritance	1984	EIF5A	OMIM:619376
HP:0000005	Mode of inheritance	92345	NAF1	OMIM:620365
HP:0000005	Mode of inheritance	11011	TLK2	OMIM:618050
HP:0000005	Mode of inheritance	6850	SYK	OMIM:619381
HP:0000005	Mode of inheritance	23193	GANAB	OMIM:600666
HP:0000005	Mode of inheritance	1066	CES1	OMIM:618057
HP:0000005	Mode of inheritance	1312	COMT	OMIM:167870
HP:0000005	Mode of inheritance	1312	COMT	OMIM:181500
HP:0000005	Mode of inheritance	27199	OXGR1	OMIM:620374
HP:0000005	Mode of inheritance	3690	ITGB3	OMIM:619271
HP:0000005	Mode of inheritance	27183	VPS4A	OMIM:619273
HP:0000005	Mode of inheritance	2077	ERF	OMIM:600775
HP:0000005	Mode of inheritance	2077	ERF	OMIM:617180
HP:0000005	Mode of inheritance	7384	UQCRC1	OMIM:619279
HP:0000005	Mode of inheritance	2132	EXT2	OMIM:133701
HP:0000005	Mode of inheritance	9782	MATR3	OMIM:606070
HP:0000005	Mode of inheritance	2904	GRIN2B	OMIM:613970
HP:0000005	Mode of inheritance	2904	GRIN2B	OMIM:616139
HP:0000005	Mode of inheritance	3209	HOXA13	OMIM:140000
HP:0000005	Mode of inheritance	3209	HOXA13	OMIM:176305
HP:0000005	Mode of inheritance	3048	HBG2	OMIM:613977
HP:0000005	Mode of inheritance	3048	HBG2	OMIM:141749
HP:0000005	Mode of inheritance	80207	OPA3	OMIM:165300
HP:0000005	Mode of inheritance	2255	FGF10	OMIM:180920
HP:0000005	Mode of inheritance	2255	FGF10	OMIM:620193
HP:0000005	Mode of inheritance	24148	PRPF6	OMIM:613983
HP:0000005	Mode of inheritance	3759	KCNJ2	OMIM:613980
HP:0000005	Mode of inheritance	3759	KCNJ2	OMIM:609622
HP:0000005	Mode of inheritance	3759	KCNJ2	OMIM:170390
HP:0000005	Mode of inheritance	121391	KRT74	OMIM:613981
HP:0000005	Mode of inheritance	121391	KRT74	OMIM:194300
HP:0000005	Mode of inheritance	6507	SLC1A3	OMIM:612656
HP:0000005	Mode of inheritance	30061	SLC40A1	OMIM:606069
HP:0000005	Mode of inheritance	5298	PI4KB	OMIM:620281
HP:0000005	Mode of inheritance	9984	THOC1	OMIM:620280
HP:0000005	Mode of inheritance	64601	VPS16	OMIM:619291
HP:0000005	Mode of inheritance	3899	AFF3	OMIM:619297
HP:0000005	Mode of inheritance	7132	TNFRSF1A	OMIM:142680
HP:0000005	Mode of inheritance	10716	TBR1	OMIM:606053
HP:0000005	Mode of inheritance	10558	SPTLC1	OMIM:620285
HP:0000005	Mode of inheritance	10558	SPTLC1	OMIM:162400
HP:0000005	Mode of inheritance	4151	MB	OMIM:620286
HP:0000005	Mode of inheritance	284656	EPHA10	OMIM:620283
HP:0000005	Mode of inheritance	474	ATOH1	OMIM:620284
HP:0000005	Mode of inheritance	26523	AGO1	OMIM:620292
HP:0000005	Mode of inheritance	55325	UFSP2	OMIM:142669
HP:0000005	Mode of inheritance	55325	UFSP2	OMIM:617974
HP:0000005	Mode of inheritance	1175	AP2S1	OMIM:600740
HP:0000005	Mode of inheritance	6262	RYR2	OMIM:115000
HP:0000005	Mode of inheritance	6262	RYR2	OMIM:604772
HP:0000005	Mode of inheritance	374393	FAM111B	OMIM:615704
HP:0000005	Mode of inheritance	3055	HCK	OMIM:620296
HP:0000005	Mode of inheritance	6566	SLC16A1	OMIM:610021
HP:0000005	Mode of inheritance	6566	SLC16A1	OMIM:245340
HP:0000005	Mode of inheritance	6566	SLC16A1	OMIM:616095
HP:0000005	Mode of inheritance	5149	PDE6H	OMIM:610024
HP:0000005	Mode of inheritance	64327	LMBR1	OMIM:186200
HP:0000005	Mode of inheritance	64327	LMBR1	OMIM:135750
HP:0000005	Mode of inheritance	64327	LMBR1	OMIM:190605
HP:0000005	Mode of inheritance	347733	TUBB2B	OMIM:610031
HP:0000005	Mode of inheritance	57057	TBX20	OMIM:611363
HP:0000005	Mode of inheritance	7025	NR2F1	OMIM:615722
HP:0000005	Mode of inheritance	3854	KRT6B	OMIM:615728
HP:0000005	Mode of inheritance	3853	KRT6A	OMIM:615726
HP:0000005	Mode of inheritance	1186	CLCN7	OMIM:166600
HP:0000005	Mode of inheritance	1186	CLCN7	OMIM:618541
HP:0000005	Mode of inheritance	6899	TBX1	OMIM:187500
HP:0000005	Mode of inheritance	6899	TBX1	OMIM:192430
HP:0000005	Mode of inheritance	6899	TBX1	OMIM:188400
HP:0000005	Mode of inheritance	2626	GATA4	OMIM:187500
HP:0000005	Mode of inheritance	2626	GATA4	OMIM:614429
HP:0000005	Mode of inheritance	2626	GATA4	OMIM:614430
HP:0000005	Mode of inheritance	2626	GATA4	OMIM:607941
HP:0000005	Mode of inheritance	2626	GATA4	OMIM:615542
HP:0000005	Mode of inheritance	23414	ZFPM2	OMIM:187500
HP:0000005	Mode of inheritance	23414	ZFPM2	OMIM:616067
HP:0000005	Mode of inheritance	5295	PIK3R1	OMIM:269880
HP:0000005	Mode of inheritance	5295	PIK3R1	OMIM:616005
HP:0000005	Mode of inheritance	10984	KCNQ1OT1	OMIM:130650
HP:0000005	Mode of inheritance	286887	KRT6C	OMIM:615735
HP:0000005	Mode of inheritance	1634	DCN	OMIM:610048
HP:0000005	Mode of inheritance	63901	FAM111A	OMIM:127000
HP:0000005	Mode of inheritance	63901	FAM111A	OMIM:602361
HP:0000005	Mode of inheritance	710	SERPING1	OMIM:106100
HP:0000005	Mode of inheritance	710	SERPING1	OMIM:120790
HP:0000005	Mode of inheritance	26353	HSPB8	OMIM:608673
HP:0000005	Mode of inheritance	26353	HSPB8	OMIM:158590
HP:0000005	Mode of inheritance	25939	SAMHD1	OMIM:614415
HP:0000005	Mode of inheritance	2737	GLI3	OMIM:174200
HP:0000005	Mode of inheritance	2737	GLI3	OMIM:175700
HP:0000005	Mode of inheritance	2737	GLI3	OMIM:174700
HP:0000005	Mode of inheritance	2737	GLI3	OMIM:146510
HP:0000005	Mode of inheritance	2554	GABRA1	OMIM:615744
HP:0000005	Mode of inheritance	5624	PROC	OMIM:176860
HP:0000005	Mode of inheritance	57094	CPA6	OMIM:614417
HP:0000005	Mode of inheritance	23431	AP4E1	OMIM:184450
HP:0000005	Mode of inheritance	631	BFSP1	OMIM:611391
HP:0000005	Mode of inheritance	4353	MPO	OMIM:104300
HP:0000005	Mode of inheritance	5328	PLAU	OMIM:104300
HP:0000005	Mode of inheritance	5328	PLAU	OMIM:601709
HP:0000005	Mode of inheritance	57167	SALL4	OMIM:607323
HP:0000005	Mode of inheritance	57167	SALL4	OMIM:147750
HP:0000005	Mode of inheritance	6708	SPTA1	OMIM:130600
HP:0000005	Mode of inheritance	55209	SETD5	OMIM:615761
HP:0000005	Mode of inheritance	10370	CITED2	OMIM:614433
HP:0000005	Mode of inheritance	10370	CITED2	OMIM:614431
HP:0000005	Mode of inheritance	7280	TUBB2A	OMIM:615763
HP:0000005	Mode of inheritance	2672	GFI1	OMIM:613107
HP:0000005	Mode of inheritance	2672	GFI1	OMIM:607847
HP:0000005	Mode of inheritance	3643	INSR	OMIM:609968
HP:0000005	Mode of inheritance	3315	HSPB1	OMIM:608634
HP:0000005	Mode of inheritance	3315	HSPB1	OMIM:606595
HP:0000005	Mode of inheritance	203068	TUBB	OMIM:615771
HP:0000005	Mode of inheritance	203068	TUBB	OMIM:156610
HP:0000005	Mode of inheritance	81027	TUBB1	OMIM:613112
HP:0000005	Mode of inheritance	3273	HRG	OMIM:613116
HP:0000005	Mode of inheritance	462	SERPINC1	OMIM:613118
HP:0000005	Mode of inheritance	10008	KCNE3	OMIM:613119
HP:0000005	Mode of inheritance	8456	FOXN1	OMIM:618806
HP:0000005	Mode of inheritance	5158	PDE6B	OMIM:163500
HP:0000005	Mode of inheritance	9217	VAPB	OMIM:608627
HP:0000005	Mode of inheritance	9217	VAPB	OMIM:182980
HP:0000005	Mode of inheritance	5339	PLEC	OMIM:131950
HP:0000005	Mode of inheritance	7067	THRA	OMIM:614450
HP:0000005	Mode of inheritance	55800	SCN3B	OMIM:613120
HP:0000005	Mode of inheritance	4286	MITF	OMIM:614456
HP:0000005	Mode of inheritance	4286	MITF	OMIM:193510
HP:0000005	Mode of inheritance	4286	MITF	OMIM:103500
HP:0000005	Mode of inheritance	91624	NEXN	OMIM:613122
HP:0000005	Mode of inheritance	91624	NEXN	OMIM:613876
HP:0000005	Mode of inheritance	3178	HNRNPA1	OMIM:610099
HP:0000005	Mode of inheritance	3178	HNRNPA1	OMIM:615424
HP:0000005	Mode of inheritance	3178	HNRNPA1	OMIM:615426
HP:0000005	Mode of inheritance	3860	KRT13	OMIM:615785
HP:0000005	Mode of inheritance	1834	DSPP	OMIM:605594
HP:0000005	Mode of inheritance	1834	DSPP	OMIM:125500
HP:0000005	Mode of inheritance	1834	DSPP	OMIM:125420
HP:0000005	Mode of inheritance	1834	DSPP	OMIM:125490
HP:0000005	Mode of inheritance	9493	KIF23	OMIM:105600
HP:0000005	Mode of inheritance	6628	SNRPB	OMIM:117650
HP:0000005	Mode of inheritance	29894	CPSF1	OMIM:618827
HP:0000005	Mode of inheritance	4659	PPP1R12A	OMIM:618820
HP:0000005	Mode of inheritance	5336	PLCG2	OMIM:614468
HP:0000005	Mode of inheritance	5336	PLCG2	OMIM:614878
HP:0000005	Mode of inheritance	246213	SLC17A8	OMIM:605583
HP:0000005	Mode of inheritance	8405	SPOP	OMIM:618828
HP:0000005	Mode of inheritance	8405	SPOP	OMIM:618829
HP:0000005	Mode of inheritance	22871	NLGN1	OMIM:618830
HP:0000005	Mode of inheritance	5500	PPP1CB	OMIM:617506
HP:0000005	Mode of inheritance	9739	SETD1A	OMIM:618832
HP:0000005	Mode of inheritance	9739	SETD1A	OMIM:619056
HP:0000005	Mode of inheritance	10210	TOPORS	OMIM:609923
HP:0000005	Mode of inheritance	79625	NDNF	OMIM:618841
HP:0000005	Mode of inheritance	158326	FREM1	OMIM:614485
HP:0000005	Mode of inheritance	7431	VIM	OMIM:116300
HP:0000005	Mode of inheritance	51780	KDM3B	OMIM:618846
HP:0000005	Mode of inheritance	4194	MDM4	OMIM:618849
HP:0000005	Mode of inheritance	5718	PSMD12	OMIM:617516
HP:0000005	Mode of inheritance	166929	SGMS2	OMIM:126550
HP:0000005	Mode of inheritance	6223	RPS19	OMIM:105650
HP:0000005	Mode of inheritance	5664	PSEN2	OMIM:606889
HP:0000005	Mode of inheritance	5664	PSEN2	OMIM:613697
HP:0000005	Mode of inheritance	65266	WNK4	OMIM:614491
HP:0000005	Mode of inheritance	65125	WNK1	OMIM:614492
HP:0000005	Mode of inheritance	5205	ATP8B1	OMIM:147480
HP:0000005	Mode of inheritance	8737	RIPK1	OMIM:618852
HP:0000005	Mode of inheritance	26249	KLHL3	OMIM:614495
HP:0000005	Mode of inheritance	23001	WDFY3	OMIM:617520
HP:0000005	Mode of inheritance	8452	CUL3	OMIM:614496
HP:0000005	Mode of inheritance	8452	CUL3	OMIM:619239
HP:0000005	Mode of inheritance	127534	GJB4	OMIM:617524
HP:0000005	Mode of inheritance	4858	NOVA2	OMIM:618859
HP:0000005	Mode of inheritance	401474	SAMD12	OMIM:601068
HP:0000005	Mode of inheritance	1024	CDK8	OMIM:618748
HP:0000005	Mode of inheritance	10059	DNM1L	OMIM:614388
HP:0000005	Mode of inheritance	10059	DNM1L	OMIM:610708
HP:0000005	Mode of inheritance	6228	RPS23	OMIM:617412
HP:0000005	Mode of inheritance	2563	GABRD	OMIM:613060
HP:0000005	Mode of inheritance	6729	SRP54	OMIM:618752
HP:0000005	Mode of inheritance	308	ANXA5	OMIM:614391
HP:0000005	Mode of inheritance	115650	TNFRSF13C	OMIM:240500
HP:0000005	Mode of inheritance	29851	ICOS	OMIM:240500
HP:0000005	Mode of inheritance	930	CD19	OMIM:240500
HP:0000005	Mode of inheritance	23495	TNFRSF13B	OMIM:240500
HP:0000005	Mode of inheritance	1380	CR2	OMIM:240500
HP:0000005	Mode of inheritance	407053	MIR96	OMIM:613074
HP:0000005	Mode of inheritance	50484	RRM2B	OMIM:613077
HP:0000005	Mode of inheritance	6844	VAMP2	OMIM:618760
HP:0000005	Mode of inheritance	130340	AP1S3	OMIM:616106
HP:0000005	Mode of inheritance	7852	CXCR4	OMIM:193670
HP:0000005	Mode of inheritance	4091	SMAD6	OMIM:617439
HP:0000005	Mode of inheritance	4091	SMAD6	OMIM:179300
HP:0000005	Mode of inheritance	4091	SMAD6	OMIM:614823
HP:0000005	Mode of inheritance	3850	KRT3	OMIM:618767
HP:0000005	Mode of inheritance	2313	FLI1	OMIM:617443
HP:0000005	Mode of inheritance	7092	TLL1	OMIM:613087
HP:0000005	Mode of inheritance	51086	TNNI3K	OMIM:616117
HP:0000005	Mode of inheritance	58484	NLRC4	OMIM:616115
HP:0000005	Mode of inheritance	58484	NLRC4	OMIM:616050
HP:0000005	Mode of inheritance	8295	TRRAP	OMIM:618778
HP:0000005	Mode of inheritance	8295	TRRAP	OMIM:618454
HP:0000005	Mode of inheritance	2201	FBN2	OMIM:616118
HP:0000005	Mode of inheritance	2201	FBN2	OMIM:121050
HP:0000005	Mode of inheritance	6602	SMARCD1	OMIM:618779
HP:0000005	Mode of inheritance	57822	GRHL3	OMIM:606713
HP:0000005	Mode of inheritance	2057	EPOR	OMIM:133100
HP:0000005	Mode of inheritance	5972	REN	OMIM:613092
HP:0000005	Mode of inheritance	5034	P4HB	OMIM:112240
HP:0000005	Mode of inheritance	23512	SUZ12	OMIM:618786
HP:0000005	Mode of inheritance	1969	EPHA2	OMIM:116600
HP:0000005	Mode of inheritance	808	CALM3	OMIM:618782
HP:0000005	Mode of inheritance	5357	PLS1	OMIM:618787
HP:0000005	Mode of inheritance	111	ADCY5	OMIM:606703
HP:0000005	Mode of inheritance	117531	TMC1	OMIM:606705
HP:0000005	Mode of inheritance	79718	TBL1XR1	OMIM:602342
HP:0000005	Mode of inheritance	79718	TBL1XR1	OMIM:616944
HP:0000005	Mode of inheritance	715	C1R	OMIM:130080
HP:0000005	Mode of inheritance	3098	HK1	OMIM:617460
HP:0000005	Mode of inheritance	3098	HK1	OMIM:618547
HP:0000005	Mode of inheritance	51339	DACT1	OMIM:617466
HP:0000005	Mode of inheritance	1742	DLG4	OMIM:618793
HP:0000005	Mode of inheritance	200424	TET3	OMIM:618798
HP:0000005	Mode of inheritance	775	CACNA1C	OMIM:601005
HP:0000005	Mode of inheritance	775	CACNA1C	OMIM:620029
HP:0000005	Mode of inheritance	775	CACNA1C	OMIM:618447
HP:0000005	Mode of inheritance	775	CACNA1C	OMIM:611875
HP:0000005	Mode of inheritance	50939	IMPG2	OMIM:616152
HP:0000005	Mode of inheritance	3617	IMPG1	OMIM:616151
HP:0000005	Mode of inheritance	3617	IMPG1	OMIM:153870
HP:0000005	Mode of inheritance	5813	PURA	OMIM:616158
HP:0000005	Mode of inheritance	4175	MCM6	OMIM:223100
HP:0000005	Mode of inheritance	2775	GNAO1	OMIM:617493
HP:0000005	Mode of inheritance	2775	GNAO1	OMIM:615473
HP:0000005	Mode of inheritance	8076	MFAP5	OMIM:616166
HP:0000005	Mode of inheritance	89884	LHX4	OMIM:262700
HP:0000005	Mode of inheritance	7415	VCP	OMIM:167320
HP:0000005	Mode of inheritance	7415	VCP	OMIM:613954
HP:0000005	Mode of inheritance	7415	VCP	OMIM:616687
HP:0000005	Mode of inheritance	6347	CCL2	OMIM:182940
HP:0000005	Mode of inheritance	80199	FUZ	OMIM:182940
HP:0000005	Mode of inheritance	6862	TBXT	OMIM:182940
HP:0000005	Mode of inheritance	57216	VANGL2	OMIM:182940
HP:0000005	Mode of inheritance	7401	CLRN1	OMIM:268000
HP:0000005	Mode of inheritance	157657	CFAP418	OMIM:268000
HP:0000005	Mode of inheritance	9227	LRAT	OMIM:268000
HP:0000005	Mode of inheritance	5949	RBP3	OMIM:268000
HP:0000005	Mode of inheritance	1259	CNGA1	OMIM:268000
HP:0000005	Mode of inheritance	5148	PDE6G	OMIM:268000
HP:0000005	Mode of inheritance	1406	CRX	OMIM:268000
HP:0000005	Mode of inheritance	1406	CRX	OMIM:120970
HP:0000005	Mode of inheritance	84100	ARL6	OMIM:268000
HP:0000005	Mode of inheritance	112755	STX1B	OMIM:616172
HP:0000005	Mode of inheritance	64065	PERP	OMIM:619208
HP:0000005	Mode of inheritance	6092	ROBO2	OMIM:610878
HP:0000005	Mode of inheritance	1281	COL3A1	OMIM:130050
HP:0000005	Mode of inheritance	343641	TGM6	OMIM:613908
HP:0000005	Mode of inheritance	486	FXYD2	OMIM:154020
HP:0000005	Mode of inheritance	3746	KCNC1	OMIM:616187
HP:0000005	Mode of inheritance	219972	MPEG1	OMIM:619223
HP:0000005	Mode of inheritance	4613	MYCN	OMIM:164280
HP:0000005	Mode of inheritance	4613	MYCN	OMIM:620748
HP:0000005	Mode of inheritance	51729	WBP11	OMIM:619227
HP:0000005	Mode of inheritance	6304	SATB1	OMIM:619228
HP:0000005	Mode of inheritance	6304	SATB1	OMIM:619229
HP:0000005	Mode of inheritance	9101	USP8	OMIM:219090
HP:0000005	Mode of inheritance	147912	SIX5	OMIM:610896
HP:0000005	Mode of inheritance	220296	HEPACAM	OMIM:613926
HP:0000005	Mode of inheritance	6295	SAG	OMIM:620228
HP:0000005	Mode of inheritance	80036	TRPM3	OMIM:620224
HP:0000005	Mode of inheritance	80036	TRPM3	OMIM:620253
HP:0000005	Mode of inheritance	286	ANK1	OMIM:182900
HP:0000005	Mode of inheritance	23112	TNRC6B	OMIM:619243
HP:0000005	Mode of inheritance	6508	SLC4A3	OMIM:620231
HP:0000005	Mode of inheritance	2700	GJA3	OMIM:601885
HP:0000005	Mode of inheritance	6389	SDHA	OMIM:619259
HP:0000005	Mode of inheritance	6389	SDHA	OMIM:614165
HP:0000005	Mode of inheritance	1290	COL5A2	OMIM:130010
HP:0000005	Mode of inheritance	55605	KIF21A	OMIM:135700
HP:0000005	Mode of inheritance	8831	SYNGAP1	OMIM:612621
HP:0000005	Mode of inheritance	7716	VEZF1	OMIM:620247
HP:0000005	Mode of inheritance	6532	SLC6A4	OMIM:164230
HP:0000005	Mode of inheritance	112744	IL17F	OMIM:613956
HP:0000005	Mode of inheritance	133396	IL31RA	OMIM:613955
HP:0000005	Mode of inheritance	81615	TMEM163	OMIM:620243
HP:0000005	Mode of inheritance	2767	GNA11	OMIM:145981
HP:0000005	Mode of inheritance	2767	GNA11	OMIM:615361
HP:0000005	Mode of inheritance	1308	COL17A1	OMIM:122400
HP:0000005	Mode of inheritance	2811	GP1BA	OMIM:153670
HP:0000005	Mode of inheritance	2811	GP1BA	OMIM:177820
HP:0000005	Mode of inheritance	79784	MYH14	OMIM:600652
HP:0000005	Mode of inheritance	79784	MYH14	OMIM:614369
HP:0000005	Mode of inheritance	26960	NBEA	OMIM:619157
HP:0000005	Mode of inheritance	2657	GDF1	OMIM:613854
HP:0000005	Mode of inheritance	6165	RPL35A	OMIM:612528
HP:0000005	Mode of inheritance	6218	RPS17	OMIM:612527
HP:0000005	Mode of inheritance	51343	FZR1	OMIM:620145
HP:0000005	Mode of inheritance	10093	ARPC4	OMIM:620141
HP:0000005	Mode of inheritance	4016	LOXL1	OMIM:177650
HP:0000005	Mode of inheritance	29072	SETD2	OMIM:620157
HP:0000005	Mode of inheritance	29072	SETD2	OMIM:620155
HP:0000005	Mode of inheritance	29072	SETD2	OMIM:616831
HP:0000005	Mode of inheritance	4884	NPTX1	OMIM:620158
HP:0000005	Mode of inheritance	9197	SLC33A1	OMIM:612539
HP:0000005	Mode of inheritance	3242	HPD	OMIM:140350
HP:0000005	Mode of inheritance	58528	RRAGD	OMIM:620152
HP:0000005	Mode of inheritance	7125	TNNC2	OMIM:620161
HP:0000005	Mode of inheritance	1185	CLCN6	OMIM:619173
HP:0000005	Mode of inheritance	6452	SH3BP2	OMIM:118400
HP:0000005	Mode of inheritance	10381	TUBB3	OMIM:600638
HP:0000005	Mode of inheritance	10381	TUBB3	OMIM:614039
HP:0000005	Mode of inheritance	57158	JPH2	OMIM:613873
HP:0000005	Mode of inheritance	5346	PLIN1	OMIM:613877
HP:0000005	Mode of inheritance	6687	SPG7	OMIM:607259
HP:0000005	Mode of inheritance	23036	ZNF292	OMIM:619188
HP:0000005	Mode of inheritance	342618	SLFN14	OMIM:616913
HP:0000005	Mode of inheritance	9096	TBX18	OMIM:143400
HP:0000005	Mode of inheritance	2259	FGF14	OMIM:620174
HP:0000005	Mode of inheritance	2259	FGF14	OMIM:193003
HP:0000005	Mode of inheritance	6135	RPL11	OMIM:612562
HP:0000005	Mode of inheritance	6125	RPL5	OMIM:612561
HP:0000005	Mode of inheritance	6201	RPS7	OMIM:612563
HP:0000005	Mode of inheritance	10846	PDE10A	OMIM:616922
HP:0000005	Mode of inheritance	8085	KMT2D	OMIM:620186
HP:0000005	Mode of inheritance	8085	KMT2D	OMIM:147920
HP:0000005	Mode of inheritance	11146	GLMN	OMIM:138000
HP:0000005	Mode of inheritance	9896	FIG4	OMIM:612577
HP:0000005	Mode of inheritance	1962	EHHADH	OMIM:615605
HP:0000005	Mode of inheritance	8106	PABPN1	OMIM:164300
HP:0000005	Mode of inheritance	1013	CDH15	OMIM:612580
HP:0000005	Mode of inheritance	3313	HSPA9	OMIM:182170
HP:0000005	Mode of inheritance	6929	TCF3	OMIM:616941
HP:0000005	Mode of inheritance	29119	CTNNA3	OMIM:615616
HP:0000005	Mode of inheritance	5424	POLD1	OMIM:612591
HP:0000005	Mode of inheritance	5424	POLD1	OMIM:620836
HP:0000005	Mode of inheritance	5424	POLD1	OMIM:615381
HP:0000005	Mode of inheritance	51308	REEP2	OMIM:615625
HP:0000005	Mode of inheritance	3371	TNC	OMIM:615629
HP:0000005	Mode of inheritance	3640	INSL3	OMIM:219050
HP:0000005	Mode of inheritance	2934	GSN	OMIM:105120
HP:0000005	Mode of inheritance	25923	ATL3	OMIM:615632
HP:0000005	Mode of inheritance	4171	MCM2	OMIM:616968
HP:0000005	Mode of inheritance	4038	LRP4	OMIM:614305
HP:0000005	Mode of inheritance	406960	MIR184	OMIM:614303
HP:0000005	Mode of inheritance	3067	HDC	OMIM:137580
HP:0000005	Mode of inheritance	8763	CD164	OMIM:616969
HP:0000005	Mode of inheritance	6473	SHOX	OMIM:127300
HP:0000005	Mode of inheritance	4010	LMX1B	OMIM:161200
HP:0000005	Mode of inheritance	1837	DTNA	OMIM:604169
HP:0000005	Mode of inheritance	53630	BCO1	OMIM:115300
HP:0000005	Mode of inheritance	473	RERE	OMIM:616975
HP:0000005	Mode of inheritance	3097	HIVEP2	OMIM:616977
HP:0000005	Mode of inheritance	1588	CYP19A1	OMIM:139300
HP:0000005	Mode of inheritance	8314	BAP1	OMIM:614327
HP:0000005	Mode of inheritance	8314	BAP1	OMIM:606661
HP:0000005	Mode of inheritance	8314	BAP1	OMIM:619762
HP:0000005	Mode of inheritance	7050	TGIF1	OMIM:142946
HP:0000005	Mode of inheritance	4507	MTAP	OMIM:112250
HP:0000005	Mode of inheritance	3868	KRT16	OMIM:613000
HP:0000005	Mode of inheritance	3868	KRT16	OMIM:167200
HP:0000005	Mode of inheritance	4604	MYBPC1	OMIM:614335
HP:0000005	Mode of inheritance	4604	MYBPC1	OMIM:618524
HP:0000005	Mode of inheritance	7476	WNT7A	OMIM:613005
HP:0000005	Mode of inheritance	5395	PMS2	OMIM:614337
HP:0000005	Mode of inheritance	3674	ITGA2B	OMIM:187800
HP:0000005	Mode of inheritance	8929	PHOX2B	OMIM:613013
HP:0000005	Mode of inheritance	8929	PHOX2B	OMIM:209880
HP:0000005	Mode of inheritance	286077	FAM83H	OMIM:130900
HP:0000005	Mode of inheritance	54583	EGLN1	OMIM:609820
HP:0000005	Mode of inheritance	8936	WASF1	OMIM:618707
HP:0000005	Mode of inheritance	28514	DLL1	OMIM:618709
HP:0000005	Mode of inheritance	1056	CEL	OMIM:609812
HP:0000005	Mode of inheritance	1786	DNMT1	OMIM:604121
HP:0000005	Mode of inheritance	1786	DNMT1	OMIM:614116
HP:0000005	Mode of inheritance	9516	LITAF	OMIM:601098
HP:0000005	Mode of inheritance	93649	MYOCD	OMIM:618719
HP:0000005	Mode of inheritance	4014	LORICRIN	OMIM:604117
HP:0000005	Mode of inheritance	51317	PHF21A	OMIM:618725
HP:0000005	Mode of inheritance	56983	POGLUT1	OMIM:615696
HP:0000005	Mode of inheritance	6137	RPL13	OMIM:618728
HP:0000005	Mode of inheritance	5449	POU1F1	OMIM:613038
HP:0000005	Mode of inheritance	646	BNC1	OMIM:618723
HP:0000005	Mode of inheritance	6910	TBX5	OMIM:142900
HP:0000005	Mode of inheritance	116369	SLC26A8	OMIM:606766
HP:0000005	Mode of inheritance	4153	MBL2	OMIM:614372
HP:0000005	Mode of inheritance	10654	PMVK	OMIM:175800
HP:0000005	Mode of inheritance	7545	ZIC1	OMIM:618736
HP:0000005	Mode of inheritance	7545	ZIC1	OMIM:616602
HP:0000005	Mode of inheritance	1460	CSNK2B	OMIM:618732
HP:0000005	Mode of inheritance	6155	RPL27	OMIM:617408
HP:0000005	Mode of inheritance	8449	DHX16	OMIM:618733
HP:0000005	Mode of inheritance	55901	THSD1	OMIM:618734
HP:0000005	Mode of inheritance	2746	GLUD1	OMIM:606762
HP:0000005	Mode of inheritance	3207	HOXA11	OMIM:605432
HP:0000005	Mode of inheritance	6232	RPS27	OMIM:617409
HP:0000005	Mode of inheritance	6335	SCN9A	OMIM:133020
HP:0000005	Mode of inheritance	6335	SCN9A	OMIM:167400
HP:0000005	Mode of inheritance	735	C9	OMIM:615591
HP:0000005	Mode of inheritance	8367	H4C5	OMIM:619950
HP:0000005	Mode of inheritance	8294	H4C9	OMIM:619951
HP:0000005	Mode of inheritance	63036	CELA2A	OMIM:618620
HP:0000005	Mode of inheritance	55654	TMEM127	OMIM:171300
HP:0000005	Mode of inheritance	4149	MAX	OMIM:171300
HP:0000005	Mode of inheritance	4149	MAX	OMIM:620712
HP:0000005	Mode of inheritance	10054	UBA2	OMIM:619959
HP:0000005	Mode of inheritance	26873	OPLAH	OMIM:260005
HP:0000005	Mode of inheritance	22800	RRAS2	OMIM:618624
HP:0000005	Mode of inheritance	6720	SREBF1	OMIM:158310
HP:0000005	Mode of inheritance	6720	SREBF1	OMIM:619016
HP:0000005	Mode of inheritance	101060691	NUTM2B-AS1	OMIM:618637
HP:0000005	Mode of inheritance	2670	GFAP	OMIM:203450
HP:0000005	Mode of inheritance	10565	ARFGEF1	OMIM:619964
HP:0000005	Mode of inheritance	535	ATP6V0A1	OMIM:619970
HP:0000005	Mode of inheritance	8930	MBD4	OMIM:619975
HP:0000005	Mode of inheritance	8930	MBD4	OMIM:606660
HP:0000005	Mode of inheritance	7123	CLEC3B	OMIM:619977
HP:0000005	Mode of inheritance	54361	WNT4	OMIM:158330
HP:0000005	Mode of inheritance	22884	WDR37	OMIM:618652
HP:0000005	Mode of inheritance	1656	DDX6	OMIM:618653
HP:0000005	Mode of inheritance	83636	C19orf12	OMIM:614298
HP:0000005	Mode of inheritance	57178	ZMIZ1	OMIM:618659
HP:0000005	Mode of inheritance	3782	KCNN3	OMIM:618658
HP:0000005	Mode of inheritance	9897	WASHC5	OMIM:603563
HP:0000005	Mode of inheritance	25794	FSCN2	OMIM:607921
HP:0000005	Mode of inheritance	253738	EBF3	OMIM:617330
HP:0000005	Mode of inheritance	7862	BRPF1	OMIM:617333
HP:0000005	Mode of inheritance	126695	KDF1	OMIM:617337
HP:0000005	Mode of inheritance	249	ALPL	OMIM:146300
HP:0000005	Mode of inheritance	1660	DHX9	OMIM:620988
HP:0000005	Mode of inheritance	389692	MAFA	OMIM:147630
HP:0000005	Mode of inheritance	132884	EVC2	OMIM:193530
HP:0000005	Mode of inheritance	2121	EVC	OMIM:193530
HP:0000005	Mode of inheritance	131405	TRIM71	OMIM:618667
HP:0000005	Mode of inheritance	10117	ENAM	OMIM:104500
HP:0000005	Mode of inheritance	55596	ZCCHC8	OMIM:618674
HP:0000005	Mode of inheritance	9247	GCM2	OMIM:617343
HP:0000005	Mode of inheritance	4849	CNOT3	OMIM:618672
HP:0000005	Mode of inheritance	3835	KIF22	OMIM:603546
HP:0000005	Mode of inheritance	285282	RABL3	OMIM:618680
HP:0000005	Mode of inheritance	4851	NOTCH1	OMIM:616028
HP:0000005	Mode of inheritance	4851	NOTCH1	OMIM:109730
HP:0000005	Mode of inheritance	9725	TMEM63A	OMIM:618688
HP:0000005	Mode of inheritance	4488	MSX2	OMIM:168550
HP:0000005	Mode of inheritance	4488	MSX2	OMIM:168500
HP:0000005	Mode of inheritance	4488	MSX2	OMIM:604757
HP:0000005	Mode of inheritance	54443	ANLN	OMIM:616032
HP:0000005	Mode of inheritance	6121	RPE65	OMIM:618697
HP:0000005	Mode of inheritance	8621	CDK13	OMIM:617360
HP:0000005	Mode of inheritance	5310	PKD1	OMIM:173900
HP:0000005	Mode of inheritance	5587	PRKD1	OMIM:617364
HP:0000005	Mode of inheritance	2302	FOXJ1	OMIM:618699
HP:0000005	Mode of inheritance	127833	SYT2	OMIM:616040
HP:0000005	Mode of inheritance	57465	TBC1D24	OMIM:616044
HP:0000005	Mode of inheritance	10049	DNAJB6	OMIM:603511
HP:0000005	Mode of inheritance	440193	CCDC88C	OMIM:616053
HP:0000005	Mode of inheritance	3745	KCNB1	OMIM:616056
HP:0000005	Mode of inheritance	23780	APOL2	OMIM:181500
HP:0000005	Mode of inheritance	267012	DAOA	OMIM:181500
HP:0000005	Mode of inheritance	6854	SYN2	OMIM:181500
HP:0000005	Mode of inheritance	27184	DISC2	OMIM:181500
HP:0000005	Mode of inheritance	65078	RTN4R	OMIM:181500
HP:0000005	Mode of inheritance	80832	APOL4	OMIM:181500
HP:0000005	Mode of inheritance	1116	CHI3L1	OMIM:181500
HP:0000005	Mode of inheritance	1027	CDKN1B	OMIM:610755
HP:0000005	Mode of inheritance	9126	SMC3	OMIM:610759
HP:0000005	Mode of inheritance	3192	HNRNPU	OMIM:617391
HP:0000005	Mode of inheritance	63910	SLC17A9	OMIM:616063
HP:0000005	Mode of inheritance	112939	NACC1	OMIM:617393
HP:0000005	Mode of inheritance	10524	KAT5	OMIM:619103
HP:0000005	Mode of inheritance	9445	ITM2B	OMIM:616079
HP:0000005	Mode of inheritance	9445	ITM2B	OMIM:117300
HP:0000005	Mode of inheritance	9445	ITM2B	OMIM:176500
HP:0000005	Mode of inheritance	10771	ZMYND11	OMIM:616083
HP:0000005	Mode of inheritance	1300	COL10A1	OMIM:156500
HP:0000005	Mode of inheritance	29895	MYL11	OMIM:619110
HP:0000005	Mode of inheritance	3839	KPNA3	OMIM:620106
HP:0000005	Mode of inheritance	80320	SP6	OMIM:620104
HP:0000005	Mode of inheritance	7078	TIMP3	OMIM:136900
HP:0000005	Mode of inheritance	6253	RTN2	OMIM:604805
HP:0000005	Mode of inheritance	10220	GDF11	OMIM:619122
HP:0000005	Mode of inheritance	79809	TTC21B	OMIM:613820
HP:0000005	Mode of inheritance	23031	MAST3	OMIM:620115
HP:0000005	Mode of inheritance	8911	CACNA1I	OMIM:620114
HP:0000005	Mode of inheritance	3710	ITPR3	OMIM:620111
HP:0000005	Mode of inheritance	2979	GUCA1B	OMIM:613827
HP:0000005	Mode of inheritance	64376	IKZF5	OMIM:619130
HP:0000005	Mode of inheritance	51778	MYOZ2	OMIM:613838
HP:0000005	Mode of inheritance	654	BMP6	OMIM:620121
HP:0000005	Mode of inheritance	899	CCNF	OMIM:619141
HP:0000005	Mode of inheritance	860	RUNX2	OMIM:156510
HP:0000005	Mode of inheritance	860	RUNX2	OMIM:119600
HP:0000005	Mode of inheritance	27161	AGO2	OMIM:619149
HP:0000005	Mode of inheritance	5567	PRKACB	OMIM:619143
HP:0000005	Mode of inheritance	7389	UROD	OMIM:176100
HP:0000005	Mode of inheritance	1462	VCAN	OMIM:143200
HP:0000005	Mode of inheritance	23019	CNOT1	OMIM:619033
HP:0000005	Mode of inheritance	23019	CNOT1	OMIM:618500
HP:0000005	Mode of inheritance	55851	PSENEN	OMIM:613736
HP:0000005	Mode of inheritance	7003	TEAD1	OMIM:108985
HP:0000005	Mode of inheritance	10992	SF3B2	OMIM:164210
HP:0000005	Mode of inheritance	355	FAS	OMIM:601859
HP:0000005	Mode of inheritance	57674	RNF213	OMIM:607151
HP:0000005	Mode of inheritance	5498	PPOX	OMIM:176200
HP:0000005	Mode of inheritance	2160	F11	OMIM:612416
HP:0000005	Mode of inheritance	9211	LGI1	OMIM:600512
HP:0000005	Mode of inheritance	64780	MICAL1	OMIM:600512
HP:0000005	Mode of inheritance	729359	PLIN4	OMIM:601846
HP:0000005	Mode of inheritance	7040	TGFB1	OMIM:131300
HP:0000005	Mode of inheritance	93	ACVR2B	OMIM:613751
HP:0000005	Mode of inheritance	6575	SLC20A2	OMIM:213600
HP:0000005	Mode of inheritance	4214	MAP3K1	OMIM:613762
HP:0000005	Mode of inheritance	5995	RGR	OMIM:613769
HP:0000005	Mode of inheritance	29880	ALG5	OMIM:620056
HP:0000005	Mode of inheritance	1576	CYP3A4	OMIM:619073
HP:0000005	Mode of inheritance	4953	ODC1	OMIM:619075
HP:0000005	Mode of inheritance	22900	CARD8	OMIM:619079
HP:0000005	Mode of inheritance	19	ABCA1	OMIM:604091
HP:0000005	Mode of inheritance	6660	SOX5	OMIM:616803
HP:0000005	Mode of inheritance	9990	SLC12A6	OMIM:620068
HP:0000005	Mode of inheritance	22859	ADGRL1	OMIM:620065
HP:0000005	Mode of inheritance	6558	SLC12A2	OMIM:619083
HP:0000005	Mode of inheritance	6558	SLC12A2	OMIM:619081
HP:0000005	Mode of inheritance	10236	HNRNPR	OMIM:620073
HP:0000005	Mode of inheritance	51611	DPH5	OMIM:620070
HP:0000005	Mode of inheritance	79966	SCD5	OMIM:619086
HP:0000005	Mode of inheritance	402	ARL2	OMIM:619082
HP:0000005	Mode of inheritance	4638	MYLK	OMIM:613780
HP:0000005	Mode of inheritance	10253	SPRY2	OMIM:616818
HP:0000005	Mode of inheritance	6742	SSBP1	OMIM:165510
HP:0000005	Mode of inheritance	51085	MLXIPL	OMIM:194050
HP:0000005	Mode of inheritance	3187	HNRNPH1	OMIM:620083
HP:0000005	Mode of inheritance	22880	MORC2	OMIM:619090
HP:0000005	Mode of inheritance	22880	MORC2	OMIM:616688
HP:0000005	Mode of inheritance	11117	EMILIN1	OMIM:620080
HP:0000005	Mode of inheritance	4677	NARS1	OMIM:619092
HP:0000005	Mode of inheritance	10002	NR2E3	OMIM:611131
HP:0000005	Mode of inheritance	4088	SMAD3	OMIM:613795
HP:0000005	Mode of inheritance	2688	GH1	OMIM:173100
HP:0000005	Mode of inheritance	506	ATP5F1B	OMIM:620085
HP:0000005	Mode of inheritance	92154	MTSS2	OMIM:620086
HP:0000005	Mode of inheritance	84978	FRMD5	OMIM:620094
HP:0000005	Mode of inheritance	51053	GMNN	OMIM:616835
HP:0000005	Mode of inheritance	10664	CTCF	OMIM:615502
HP:0000005	Mode of inheritance	57592	ZNF687	OMIM:616833
HP:0000005	Mode of inheritance	23534	TNPO3	OMIM:608423
HP:0000005	Mode of inheritance	2658	GDF2	OMIM:615506
HP:0000005	Mode of inheritance	57716	PRX	OMIM:145900
HP:0000005	Mode of inheritance	3720	JARID2	OMIM:620098
HP:0000005	Mode of inheritance	865	CBFB	OMIM:620099
HP:0000005	Mode of inheritance	147495	APCDD1	OMIM:605389
HP:0000005	Mode of inheritance	2066	ERBB4	OMIM:615515
HP:0000005	Mode of inheritance	5293	PIK3CD	OMIM:615513
HP:0000005	Mode of inheritance	1417	CRYBB3	OMIM:609741
HP:0000005	Mode of inheritance	128866	CHMP4B	OMIM:605387
HP:0000005	Mode of inheritance	10847	SRCAP	OMIM:136140
HP:0000005	Mode of inheritance	123624	AGBL1	OMIM:615523
HP:0000005	Mode of inheritance	10483	SEC23B	OMIM:616858
HP:0000005	Mode of inheritance	5915	RARB	OMIM:615524
HP:0000005	Mode of inheritance	3914	LAMB3	OMIM:104530
HP:0000005	Mode of inheritance	1141	CHRNB2	OMIM:605375
HP:0000005	Mode of inheritance	60529	ALX4	OMIM:615529
HP:0000005	Mode of inheritance	60529	ALX4	OMIM:609597
HP:0000005	Mode of inheritance	55737	VPS35	OMIM:614203
HP:0000005	Mode of inheritance	7874	USP7	OMIM:616863
HP:0000005	Mode of inheritance	102	ADAM10	OMIM:615537
HP:0000005	Mode of inheritance	55780	ERMARD	OMIM:615544
HP:0000005	Mode of inheritance	11280	SCN11A	OMIM:615548
HP:0000005	Mode of inheritance	11280	SCN11A	OMIM:615552
HP:0000005	Mode of inheritance	6444	SGCD	OMIM:606685
HP:0000005	Mode of inheritance	6336	SCN10A	OMIM:615551
HP:0000005	Mode of inheritance	8863	PER3	OMIM:616882
HP:0000005	Mode of inheritance	6138	RPL15	OMIM:615550
HP:0000005	Mode of inheritance	80326	WNT10A	OMIM:150400
HP:0000005	Mode of inheritance	5618	PRLR	OMIM:615555
HP:0000005	Mode of inheritance	5618	PRLR	OMIM:615554
HP:0000005	Mode of inheritance	3747	KCNC2	OMIM:619913
HP:0000005	Mode of inheritance	284086	NEK8	OMIM:620903
HP:0000005	Mode of inheritance	57647	DHX37	OMIM:273250
HP:0000005	Mode of inheritance	490	ATP2B1	OMIM:619910
HP:0000005	Mode of inheritance	1857	DVL3	OMIM:616894
HP:0000005	Mode of inheritance	2890	GRIA1	OMIM:619927
HP:0000005	Mode of inheritance	10243	GPHN	OMIM:149400
HP:0000005	Mode of inheritance	2741	GLRA1	OMIM:149400
HP:0000005	Mode of inheritance	9790	BMS1	OMIM:107600
HP:0000005	Mode of inheritance	3708	ITPR1	OMIM:606658
HP:0000005	Mode of inheritance	3708	ITPR1	OMIM:117360
HP:0000005	Mode of inheritance	3708	ITPR1	OMIM:206700
HP:0000005	Mode of inheritance	4791	NFKB2	OMIM:615577
HP:0000005	Mode of inheritance	5455	POU3F3	OMIM:618604
HP:0000005	Mode of inheritance	81545	FBXO38	OMIM:615575
HP:0000005	Mode of inheritance	4848	CNOT2	OMIM:618608
HP:0000005	Mode of inheritance	4340	MOG	OMIM:614250
HP:0000005	Mode of inheritance	2902	GRIN1	OMIM:614254
HP:0000005	Mode of inheritance	1981	EIF4G1	OMIM:614251
HP:0000005	Mode of inheritance	7043	TGFB3	OMIM:615582
HP:0000005	Mode of inheritance	7043	TGFB3	OMIM:107970
HP:0000005	Mode of inheritance	22827	PUF60	OMIM:615583
HP:0000005	Mode of inheritance	2036	EPB41L1	OMIM:614257
HP:0000005	Mode of inheritance	3034	HAL	OMIM:235800
HP:0000005	Mode of inheritance	10369	CACNG2	OMIM:614256
HP:0000005	Mode of inheritance	406932	MIR140	OMIM:618618
HP:0000005	Mode of inheritance	54796	BNC2	OMIM:618612
HP:0000005	Mode of inheritance	58499	ZNF462	OMIM:618619
HP:0000005	Mode of inheritance	3299	HSF4	OMIM:116800
HP:0000005	Mode of inheritance	10194	TSHZ1	OMIM:607842
HP:0000005	Mode of inheritance	776	CACNA1D	OMIM:615474
HP:0000005	Mode of inheritance	23135	KDM6B	OMIM:618505
HP:0000005	Mode of inheritance	6659	SOX4	OMIM:618506
HP:0000005	Mode of inheritance	81570	CLPB	OMIM:619835
HP:0000005	Mode of inheritance	81570	CLPB	OMIM:619813
HP:0000005	Mode of inheritance	5927	KDM5A	OMIM:620820
HP:0000005	Mode of inheritance	27022	FOXD3	OMIM:607836
HP:0000005	Mode of inheritance	4653	MYOC	OMIM:137750
HP:0000005	Mode of inheritance	54332	GDAP1	OMIM:607831
HP:0000005	Mode of inheritance	56704	JPH1	OMIM:607831
HP:0000005	Mode of inheritance	51807	TUBA8	OMIM:619840
HP:0000005	Mode of inheritance	9578	CDC42BPB	OMIM:619841
HP:0000005	Mode of inheritance	80816	ASXL3	OMIM:615485
HP:0000005	Mode of inheritance	56616	DIABLO	OMIM:614152
HP:0000005	Mode of inheritance	10528	NOP56	OMIM:614153
HP:0000005	Mode of inheritance	644	BLVRA	OMIM:614156
HP:0000005	Mode of inheritance	55904	KMT2E	OMIM:618512
HP:0000005	Mode of inheritance	90	ACVR1	OMIM:135100
HP:0000005	Mode of inheritance	818	CAMK2G	OMIM:618522
HP:0000005	Mode of inheritance	1407	CRY1	OMIM:614163
HP:0000005	Mode of inheritance	64834	ELOVL1	OMIM:618527
HP:0000005	Mode of inheritance	84146	ZNF644	OMIM:614167
HP:0000005	Mode of inheritance	2770	GNAI1	OMIM:619854
HP:0000005	Mode of inheritance	1733	DIO1	OMIM:619855
HP:0000005	Mode of inheritance	5139	PDE3A	OMIM:112410
HP:0000005	Mode of inheritance	8789	FBP2	OMIM:619864
HP:0000005	Mode of inheritance	23327	NEDD4L	OMIM:617201
HP:0000005	Mode of inheritance	6392	SDHD	OMIM:168000
HP:0000005	Mode of inheritance	26834	RNU4-2	OMIM:620851
HP:0000005	Mode of inheritance	4322	MMP13	OMIM:602111
HP:0000005	Mode of inheritance	10621	POLR3F	OMIM:619872
HP:0000005	Mode of inheritance	26038	CHD5	OMIM:619873
HP:0000005	Mode of inheritance	10935	PRDX3	OMIM:619871
HP:0000005	Mode of inheritance	7058	THBS2	OMIM:620865
HP:0000005	Mode of inheritance	845	CASQ2	OMIM:604772
HP:0000005	Mode of inheritance	10345	TRDN	OMIM:604772
HP:0000005	Mode of inheritance	30813	VSX1	OMIM:614195
HP:0000005	Mode of inheritance	30813	VSX1	OMIM:148300
HP:0000005	Mode of inheritance	9276	COPB2	OMIM:619884
HP:0000005	Mode of inheritance	56098	PCDHGC4	OMIM:619880
HP:0000005	Mode of inheritance	24145	PANX1	OMIM:618550
HP:0000005	Mode of inheritance	2558	GABRA5	OMIM:618559
HP:0000005	Mode of inheritance	5308	PITX2	OMIM:180550
HP:0000005	Mode of inheritance	5308	PITX2	OMIM:180500
HP:0000005	Mode of inheritance	5308	PITX2	OMIM:137600
HP:0000005	Mode of inheritance	8974	P4HA2	OMIM:617238
HP:0000005	Mode of inheritance	6533	SLC6A6	OMIM:145350
HP:0000005	Mode of inheritance	5881	RAC3	OMIM:618577
HP:0000005	Mode of inheritance	338	APOB	OMIM:144010
HP:0000005	Mode of inheritance	203859	ANO5	OMIM:166260
HP:0000005	Mode of inheritance	2161	F12	OMIM:610618
HP:0000005	Mode of inheritance	94	ACVRL1	OMIM:600376
HP:0000005	Mode of inheritance	1173	AP2M1	OMIM:618587
HP:0000005	Mode of inheritance	6229	RPS24	OMIM:610629
HP:0000005	Mode of inheritance	123606	NIPA1	OMIM:600363
HP:0000005	Mode of inheritance	153	ADRB1	OMIM:618591
HP:0000005	Mode of inheritance	7707	ZNF148	OMIM:617260
HP:0000005	Mode of inheritance	57520	HECW2	OMIM:617268
HP:0000005	Mode of inheritance	1760	DMPK	OMIM:160900
HP:0000005	Mode of inheritance	64388	GREM2	OMIM:617275
HP:0000005	Mode of inheritance	6530	SLC6A2	OMIM:604715
HP:0000005	Mode of inheritance	551	AVP	OMIM:125700
HP:0000005	Mode of inheritance	7136	TNNI2	OMIM:601680
HP:0000005	Mode of inheritance	4635	MYL4	OMIM:617280
HP:0000005	Mode of inheritance	57498	KIDINS220	OMIM:617296
HP:0000005	Mode of inheritance	54800	KLHL24	OMIM:617294
HP:0000005	Mode of inheritance	54949	SDHAF2	OMIM:601650
HP:0000005	Mode of inheritance	2628	GATM	OMIM:134600
HP:0000005	Mode of inheritance	23067	SETD1B	OMIM:619000
HP:0000005	Mode of inheritance	2668	GDNF	OMIM:613711
HP:0000005	Mode of inheritance	51082	POLR1D	OMIM:613717
HP:0000005	Mode of inheritance	80217	CFAP43	OMIM:236690
HP:0000005	Mode of inheritance	3785	KCNQ2	OMIM:613720
HP:0000005	Mode of inheritance	3785	KCNQ2	OMIM:121200
HP:0000005	Mode of inheritance	8914	TIMELESS	OMIM:620015
HP:0000005	Mode of inheritance	55294	FBXW7	OMIM:620012
HP:0000005	Mode of inheritance	7403	KDM6A	OMIM:147920
HP:0000005	Mode of inheritance	176	ACAN	OMIM:608361
HP:0000005	Mode of inheritance	176	ACAN	OMIM:165800
HP:0000005	Mode of inheritance	1559	CYP2C9	OMIM:122700
HP:0000005	Mode of inheritance	79001	VKORC1	OMIM:122700
HP:0000005	Mode of inheritance	5921	RASA1	OMIM:608354
HP:0000005	Mode of inheritance	9750	RIPOR2	OMIM:607017
HP:0000005	Mode of inheritance	9517	SPTLC2	OMIM:613640
HP:0000005	Mode of inheritance	23314	SATB2	OMIM:612313
HP:0000005	Mode of inheritance	80216	ALPK1	OMIM:614979
HP:0000005	Mode of inheritance	23118	TAB2	OMIM:614980
HP:0000005	Mode of inheritance	3418	IDH2	OMIM:613657
HP:0000005	Mode of inheritance	338567	KCNK18	OMIM:613656
HP:0000005	Mode of inheritance	64419	MTMR14	OMIM:160150
HP:0000005	Mode of inheritance	1785	DNM2	OMIM:160150
HP:0000005	Mode of inheritance	1785	DNM2	OMIM:606482
HP:0000005	Mode of inheritance	368	ABCC6	OMIM:177850
HP:0000005	Mode of inheritance	10472	ZBTB18	OMIM:612337
HP:0000005	Mode of inheritance	5627	PROS1	OMIM:612336
HP:0000005	Mode of inheritance	8565	YARS1	OMIM:608323
HP:0000005	Mode of inheritance	4205	MEF2A	OMIM:608320
HP:0000005	Mode of inheritance	27086	FOXP1	OMIM:613670
HP:0000005	Mode of inheritance	10661	KLF1	OMIM:613673
HP:0000005	Mode of inheritance	3329	HSPD1	OMIM:605280
HP:0000005	Mode of inheritance	64321	SOX17	OMIM:613674
HP:0000005	Mode of inheritance	51322	WAC	OMIM:616708
HP:0000005	Mode of inheritance	9455	HOMER2	OMIM:616707
HP:0000005	Mode of inheritance	7546	ZIC2	OMIM:609637
HP:0000005	Mode of inheritance	51142	CHCHD2	OMIM:616710
HP:0000005	Mode of inheritance	144245	ALG10B	OMIM:613688
HP:0000005	Mode of inheritance	3757	KCNH2	OMIM:613688
HP:0000005	Mode of inheritance	3757	KCNH2	OMIM:609620
HP:0000005	Mode of inheritance	3053	SERPIND1	OMIM:612356
HP:0000005	Mode of inheritance	3736	KCNA1	OMIM:160120
HP:0000005	Mode of inheritance	406987	MIR204	OMIM:616722
HP:0000005	Mode of inheritance	3753	KCNE1	OMIM:613695
HP:0000005	Mode of inheritance	23028	KDM1A	OMIM:616728
HP:0000005	Mode of inheritance	9780	PIEZO1	OMIM:194380
HP:0000005	Mode of inheritance	3748	KCNC3	OMIM:605259
HP:0000005	Mode of inheritance	998	CDC42	OMIM:616737
HP:0000005	Mode of inheritance	10982	MAPRE2	OMIM:616734
HP:0000005	Mode of inheritance	2122	MECOM	OMIM:616738
HP:0000005	Mode of inheritance	6314	ATXN7	OMIM:164500
HP:0000005	Mode of inheritance	7283	TUBG1	OMIM:615412
HP:0000005	Mode of inheritance	7128	TNFAIP3	OMIM:616744
HP:0000005	Mode of inheritance	340719	NANOS1	OMIM:615413
HP:0000005	Mode of inheritance	3796	KIF2A	OMIM:615411
HP:0000005	Mode of inheritance	56244	BTNL2	OMIM:612387
HP:0000005	Mode of inheritance	201973	PRIMPOL	OMIM:615420
HP:0000005	Mode of inheritance	1859	DYRK1A	OMIM:614104
HP:0000005	Mode of inheritance	5592	PRKG1	OMIM:615436
HP:0000005	Mode of inheritance	23328	SASH1	OMIM:127500
HP:0000005	Mode of inheritance	3060	HCRT	OMIM:161400
HP:0000005	Mode of inheritance	56910	STARD7	OMIM:607876
HP:0000005	Mode of inheritance	491	ATP2B2	OMIM:619804
HP:0000005	Mode of inheritance	347688	TUBB8	OMIM:616780
HP:0000005	Mode of inheritance	56172	ANKH	OMIM:118600
HP:0000005	Mode of inheritance	56172	ANKH	OMIM:123000
HP:0000005	Mode of inheritance	1748	DLX4	OMIM:616788
HP:0000005	Mode of inheritance	24	ABCA4	OMIM:153800
HP:0000005	Mode of inheritance	23389	MED13L	OMIM:616789
HP:0000005	Mode of inheritance	5699	PSMB10	OMIM:620807
HP:0000005	Mode of inheritance	2752	GLUL	OMIM:620806
HP:0000005	Mode of inheritance	79875	THSD4	OMIM:619825
HP:0000005	Mode of inheritance	1297	COL9A1	OMIM:614135
HP:0000005	Mode of inheritance	54829	ASPN	OMIM:607850
HP:0000005	Mode of inheritance	8036	SHOC2	OMIM:607721
HP:0000005	Mode of inheritance	3783	KCNN4	OMIM:616689
HP:0000005	Mode of inheritance	23418	CRB1	OMIM:172870
HP:0000005	Mode of inheritance	6016	RIT1	OMIM:615355
HP:0000005	Mode of inheritance	6938	TCF12	OMIM:619718
HP:0000005	Mode of inheritance	6938	TCF12	OMIM:615314
HP:0000005	Mode of inheritance	4254	KITLG	OMIM:145250
HP:0000005	Mode of inheritance	4254	KITLG	OMIM:616697
HP:0000005	Mode of inheritance	3703	STT3A	OMIM:619714
HP:0000005	Mode of inheritance	7849	PAX8	OMIM:218700
HP:0000005	Mode of inheritance	3020	H3-3A	OMIM:619720
HP:0000005	Mode of inheritance	3021	H3-3B	OMIM:619721
HP:0000005	Mode of inheritance	3029	HAGH	OMIM:614033
HP:0000005	Mode of inheritance	4598	MVK	OMIM:175900
HP:0000005	Mode of inheritance	1106	CHD2	OMIM:615369
HP:0000005	Mode of inheritance	3781	KCNN2	OMIM:619724
HP:0000005	Mode of inheritance	3781	KCNN2	OMIM:619725
HP:0000005	Mode of inheritance	60482	SLC5A7	OMIM:158580
HP:0000005	Mode of inheritance	63976	PRDM16	OMIM:615373
HP:0000005	Mode of inheritance	1293	COL6A3	OMIM:620726
HP:0000005	Mode of inheritance	4160	MC4R	OMIM:618406
HP:0000005	Mode of inheritance	6327	SCN2B	OMIM:615378
HP:0000005	Mode of inheritance	1292	COL6A2	OMIM:620725
HP:0000005	Mode of inheritance	1009	CDH11	OMIM:619736
HP:0000005	Mode of inheritance	7020	TFAP2A	OMIM:113620
HP:0000005	Mode of inheritance	55703	POLR3B	OMIM:619742
HP:0000005	Mode of inheritance	5442	POLRMT	OMIM:619743
HP:0000005	Mode of inheritance	51271	UBAP1	OMIM:618418
HP:0000005	Mode of inheritance	7855	FZD5	OMIM:620731
HP:0000005	Mode of inheritance	9518	GDF15	OMIM:620730
HP:0000005	Mode of inheritance	55012	PPP2R3C	OMIM:618420
HP:0000005	Mode of inheritance	8363	H4C11	OMIM:619759
HP:0000005	Mode of inheritance	57282	SLC4A10	OMIM:620746
HP:0000005	Mode of inheritance	8364	H4C3	OMIM:619758
HP:0000005	Mode of inheritance	53335	BCL11A	OMIM:617101
HP:0000005	Mode of inheritance	6942	TCF20	OMIM:618430
HP:0000005	Mode of inheritance	6506	SLC1A2	OMIM:617105
HP:0000005	Mode of inheritance	7140	TNNT3	OMIM:618435
HP:0000005	Mode of inheritance	140679	SLC32A1	OMIM:620755
HP:0000005	Mode of inheritance	140679	SLC32A1	OMIM:620774
HP:0000005	Mode of inheritance	6117	RPA1	OMIM:619767
HP:0000005	Mode of inheritance	4621	MYH3	OMIM:618436
HP:0000005	Mode of inheritance	4621	MYH3	OMIM:178110
HP:0000005	Mode of inheritance	4621	MYH3	OMIM:193700
HP:0000005	Mode of inheritance	54487	DGCR8	OMIM:192430
HP:0000005	Mode of inheritance	8214	DGCR6	OMIM:192430
HP:0000005	Mode of inheritance	8220	ESS2	OMIM:192430
HP:0000005	Mode of inheritance	9993	DGCR2	OMIM:192430
HP:0000005	Mode of inheritance	54894	RNF43	OMIM:617108
HP:0000005	Mode of inheritance	2035	EPB41	OMIM:611804
HP:0000005	Mode of inheritance	23162	MAPK8IP3	OMIM:618443
HP:0000005	Mode of inheritance	7867	MAPKAPK3	OMIM:617111
HP:0000005	Mode of inheritance	23219	FBXO28	OMIM:619777
HP:0000005	Mode of inheritance	9496	TBX4	OMIM:147891
HP:0000005	Mode of inheritance	57192	MCOLN1	OMIM:620763
HP:0000005	Mode of inheritance	6330	SCN4B	OMIM:611819
HP:0000005	Mode of inheritance	5083	PAX9	OMIM:604625
HP:0000005	Mode of inheritance	3763	KCNJ6	OMIM:614098
HP:0000005	Mode of inheritance	120766137	HRURF	OMIM:146550
HP:0000005	Mode of inheritance	5062	PAK2	OMIM:618458
HP:0000005	Mode of inheritance	10142	AKAP9	OMIM:611820
HP:0000005	Mode of inheritance	30817	ADGRE2	OMIM:125630
HP:0000005	Mode of inheritance	353116	RILPL1	OMIM:619790
HP:0000005	Mode of inheritance	8402	SLC25A11	OMIM:618464
HP:0000005	Mode of inheritance	2355	FOSL2	OMIM:620789
HP:0000005	Mode of inheritance	1071	CETP	OMIM:143470
HP:0000005	Mode of inheritance	4143	MAT1A	OMIM:250850
HP:0000005	Mode of inheritance	11267	SNF8	OMIM:620784
HP:0000005	Mode of inheritance	11267	SNF8	OMIM:620783
HP:0000005	Mode of inheritance	3786	KCNQ3	OMIM:121201
HP:0000005	Mode of inheritance	8462	KLF11	OMIM:610508
HP:0000005	Mode of inheritance	51412	ACTL6B	OMIM:618470
HP:0000005	Mode of inheritance	54765	TRIM44	OMIM:617142
HP:0000005	Mode of inheritance	27286	SRPX2	OMIM:300643
HP:0000005	Mode of inheritance	26610	ELP4	OMIM:617141
HP:0000005	Mode of inheritance	6651	SON	OMIM:617140
HP:0000005	Mode of inheritance	1815	DRD4	OMIM:143465
HP:0000005	Mode of inheritance	5698	PSMB9	OMIM:620796
HP:0000005	Mode of inheritance	362	AQP5	OMIM:600231
HP:0000005	Mode of inheritance	2560	GABRB1	OMIM:617153
HP:0000005	Mode of inheritance	1041	CDSN	OMIM:146520
HP:0000005	Mode of inheritance	1108	CHD4	OMIM:617159
HP:0000005	Mode of inheritance	5313	PKLR	OMIM:102900
HP:0000005	Mode of inheritance	6712	SPTBN2	OMIM:600224
HP:0000005	Mode of inheritance	372	ARCN1	OMIM:617164
HP:0000005	Mode of inheritance	22808	MRAS	OMIM:618499
HP:0000005	Mode of inheritance	2906	GRIN2D	OMIM:617162
HP:0000005	Mode of inheritance	4015	LOX	OMIM:617168
HP:0000005	Mode of inheritance	54538	ROBO4	OMIM:618496
HP:0000005	Mode of inheritance	2257	FGF12	OMIM:617166
HP:0000005	Mode of inheritance	2192	FBLN1	OMIM:608180
HP:0000005	Mode of inheritance	1180	CLCN1	OMIM:160800
HP:0000005	Mode of inheritance	9343	EFTUD2	OMIM:610536
HP:0000005	Mode of inheritance	7007	TECTA	OMIM:601543
HP:0000005	Mode of inheritance	1415	CRYBB2	OMIM:601547
HP:0000005	Mode of inheritance	716	C1S	OMIM:617174
HP:0000005	Mode of inheritance	57514	ARHGAP31	OMIM:100300
HP:0000005	Mode of inheritance	6154	RPL26	OMIM:614900
HP:0000005	Mode of inheritance	783	CACNB2	OMIM:611876
HP:0000005	Mode of inheritance	55210	ATAD3A	OMIM:617183
HP:0000005	Mode of inheritance	1298	COL9A2	OMIM:600204
HP:0000005	Mode of inheritance	23516	SLC39A14	OMIM:144755
HP:0000005	Mode of inheritance	55252	ASXL2	OMIM:617190
HP:0000005	Mode of inheritance	283	ANG	OMIM:611895
HP:0000005	Mode of inheritance	6041	RNASEL	OMIM:601518
HP:0000005	Mode of inheritance	8996	NOL3	OMIM:614937
HP:0000005	Mode of inheritance	3480	IGF1R	OMIM:270450
HP:0000005	Mode of inheritance	10299	MARCHF6	OMIM:613608
HP:0000005	Mode of inheritance	146227	BEAN1	OMIM:117210
HP:0000005	Mode of inheritance	124404	SEPTIN12	OMIM:614822
HP:0000005	Mode of inheritance	6519	SLC3A1	OMIM:220100
HP:0000005	Mode of inheritance	11136	SLC7A9	OMIM:220100
HP:0000005	Mode of inheritance	50940	PDE11A	OMIM:610475
HP:0000005	Mode of inheritance	1824	DSC2	OMIM:610476
HP:0000005	Mode of inheritance	26012	NSMF	OMIM:614838
HP:0000005	Mode of inheritance	56262	LRRC8A	OMIM:613506
HP:0000005	Mode of inheritance	57492	ARID1B	OMIM:135900
HP:0000005	Mode of inheritance	23090	ZNF423	OMIM:614844
HP:0000005	Mode of inheritance	9639	ARHGEF10	OMIM:608236
HP:0000005	Mode of inheritance	7187	TRAF3	OMIM:614849
HP:0000005	Mode of inheritance	6911	TBX6	OMIM:122600
HP:0000005	Mode of inheritance	55717	WDR11	OMIM:614858
HP:0000005	Mode of inheritance	22953	P2RX2	OMIM:608224
HP:0000005	Mode of inheritance	2243	FGA	OMIM:105200
HP:0000005	Mode of inheritance	5190	PEX6	OMIM:614863
HP:0000005	Mode of inheritance	4878	NPPA	OMIM:612201
HP:0000005	Mode of inheritance	4306	NR3C2	OMIM:177735
HP:0000005	Mode of inheritance	4306	NR3C2	OMIM:605115
HP:0000005	Mode of inheritance	9568	GABBR2	OMIM:617903
HP:0000005	Mode of inheritance	9568	GABBR2	OMIM:617904
HP:0000005	Mode of inheritance	84634	KISS1R	OMIM:176400
HP:0000005	Mode of inheritance	2056	EPO	OMIM:617907
HP:0000005	Mode of inheritance	9180	OSMR	OMIM:105250
HP:0000005	Mode of inheritance	9394	HS6ST1	OMIM:614880
HP:0000005	Mode of inheritance	3394	IRF8	OMIM:614893
HP:0000005	Mode of inheritance	10371	SEMA3A	OMIM:614897
HP:0000005	Mode of inheritance	113457	TUBA3D	OMIM:617928
HP:0000005	Mode of inheritance	6310	ATXN1	OMIM:164400
HP:0000005	Mode of inheritance	8729	GBF1	OMIM:606483
HP:0000005	Mode of inheritance	3741	KCNA5	OMIM:612240
HP:0000005	Mode of inheritance	6328	SCN3A	OMIM:617935
HP:0000005	Mode of inheritance	6328	SCN3A	OMIM:617938
HP:0000005	Mode of inheritance	6710	SPTB	OMIM:617948
HP:0000005	Mode of inheritance	6710	SPTB	OMIM:616649
HP:0000005	Mode of inheritance	4297	KMT2A	OMIM:605130
HP:0000005	Mode of inheritance	3047	HBG1	OMIM:141749
HP:0000005	Mode of inheritance	3035	HARS1	OMIM:616625
HP:0000005	Mode of inheritance	2978	GUCA1A	OMIM:602093
HP:0000005	Mode of inheritance	3791	KDR	OMIM:602089
HP:0000005	Mode of inheritance	84168	ANTXR1	OMIM:602089
HP:0000005	Mode of inheritance	1508	CTSB	OMIM:148370
HP:0000005	Mode of inheritance	54664	TMEM106B	OMIM:617964
HP:0000005	Mode of inheritance	2224	FDPS	OMIM:616631
HP:0000005	Mode of inheritance	93986	FOXP2	OMIM:602081
HP:0000005	Mode of inheritance	8820	HESX1	OMIM:182230
HP:0000005	Mode of inheritance	57338	JPH3	OMIM:606438
HP:0000005	Mode of inheritance	9368	NHERF1	OMIM:612287
HP:0000005	Mode of inheritance	6569	SLC34A1	OMIM:612286
HP:0000005	Mode of inheritance	29957	SLC25A24	OMIM:612289
HP:0000005	Mode of inheritance	3199	HOXA2	OMIM:612290
HP:0000005	Mode of inheritance	51305	KCNK9	OMIM:612292
HP:0000005	Mode of inheritance	54870	QRICH1	OMIM:617982
HP:0000005	Mode of inheritance	23509	POFUT1	OMIM:615327
HP:0000005	Mode of inheritance	55023	PHIP	OMIM:617991
HP:0000005	Mode of inheritance	6915	TBXA2R	OMIM:614009
HP:0000005	Mode of inheritance	103	ADAR	OMIM:127400
HP:0000005	Mode of inheritance	136371	ASB10	OMIM:603383
HP:0000005	Mode of inheritance	3777	KCNK3	OMIM:615344
HP:0000005	Mode of inheritance	6688	SPI1	OMIM:619707
HP:0000005	Mode of inheritance	8328	GFI1B	OMIM:187900
HP:0000005	Mode of inheritance	64170	CARD9	OMIM:212050
HP:0000005	Mode of inheritance	2673	GFPT1	OMIM:608931
HP:0000005	Mode of inheritance	2673	GFPT1	OMIM:610542
HP:0000005	Mode of inheritance	51256	TBC1D7	OMIM:248000
HP:0000005	Mode of inheritance	28981	IFT81	OMIM:617895
HP:0000005	Mode of inheritance	583	BBS2	OMIM:616562
HP:0000005	Mode of inheritance	583	BBS2	OMIM:615981
HP:0000005	Mode of inheritance	51569	UFM1	OMIM:617899
HP:0000005	Mode of inheritance	79827	CLMP	OMIM:615237
HP:0000005	Mode of inheritance	134701	RIPPLY2	OMIM:616566
HP:0000005	Mode of inheritance	7299	TYR	OMIM:203100
HP:0000005	Mode of inheritance	7299	TYR	OMIM:606952
HP:0000005	Mode of inheritance	63924	CIDEC	OMIM:615238
HP:0000005	Mode of inheritance	6890	TAP1	OMIM:604571
HP:0000005	Mode of inheritance	51099	ABHD5	OMIM:275630
HP:0000005	Mode of inheritance	2731	GLDC	OMIM:605899
HP:0000005	Mode of inheritance	54714	CNGB3	OMIM:262300
HP:0000005	Mode of inheritance	2073	ERCC5	OMIM:616570
HP:0000005	Mode of inheritance	2073	ERCC5	OMIM:278780
HP:0000005	Mode of inheritance	396	ARHGDIA	OMIM:615244
HP:0000005	Mode of inheritance	166378	AFG2A	OMIM:616577
HP:0000005	Mode of inheritance	146845	CFAP52	OMIM:619607
HP:0000005	Mode of inheritance	25790	CFAP45	OMIM:619608
HP:0000005	Mode of inheritance	84197	POMK	OMIM:615249
HP:0000005	Mode of inheritance	84197	POMK	OMIM:616094
HP:0000005	Mode of inheritance	84520	GON7	OMIM:619603
HP:0000005	Mode of inheritance	81846	SBF2	OMIM:604563
HP:0000005	Mode of inheritance	1161	ERCC8	OMIM:216400
HP:0000005	Mode of inheritance	1161	ERCC8	OMIM:614621
HP:0000005	Mode of inheritance	79693	YRDC	OMIM:619609
HP:0000005	Mode of inheritance	1369	CPN1	OMIM:212070
HP:0000005	Mode of inheritance	79029	AFG2B	OMIM:619616
HP:0000005	Mode of inheritance	79029	AFG2B	OMIM:619615
HP:0000005	Mode of inheritance	6573	SLC19A1	OMIM:620603
HP:0000005	Mode of inheritance	6573	SLC19A1	OMIM:601775
HP:0000005	Mode of inheritance	7436	VLDLR	OMIM:224050
HP:0000005	Mode of inheritance	54543	TOMM7	OMIM:620601
HP:0000005	Mode of inheritance	80201	HKDC1	OMIM:619614
HP:0000005	Mode of inheritance	5191	PEX7	OMIM:215100
HP:0000005	Mode of inheritance	5191	PEX7	OMIM:266500
HP:0000005	Mode of inheritance	5191	PEX7	OMIM:614879
HP:0000005	Mode of inheritance	200942	KLHDC8B	OMIM:236000
HP:0000005	Mode of inheritance	1565	CYP2D6	OMIM:608902
HP:0000005	Mode of inheritance	5297	PI4KA	OMIM:619621
HP:0000005	Mode of inheritance	5297	PI4KA	OMIM:616531
HP:0000005	Mode of inheritance	5297	PI4KA	OMIM:619708
HP:0000005	Mode of inheritance	51761	ATP8A2	OMIM:615268
HP:0000005	Mode of inheritance	51702	PADI3	OMIM:191480
HP:0000005	Mode of inheritance	4247	MGAT2	OMIM:212066
HP:0000005	Mode of inheritance	5373	PMM2	OMIM:212065
HP:0000005	Mode of inheritance	5337	PLD1	OMIM:212093
HP:0000005	Mode of inheritance	5317	PKP1	OMIM:604536
HP:0000005	Mode of inheritance	167691	LCA5	OMIM:604537
HP:0000005	Mode of inheritance	2072	ERCC4	OMIM:615272
HP:0000005	Mode of inheritance	2072	ERCC4	OMIM:610965
HP:0000005	Mode of inheritance	2072	ERCC4	OMIM:278760
HP:0000005	Mode of inheritance	30009	TBX21	OMIM:619630
HP:0000005	Mode of inheritance	30009	TBX21	OMIM:208550
HP:0000005	Mode of inheritance	55768	NGLY1	OMIM:615273
HP:0000005	Mode of inheritance	1770	DNAH9	OMIM:618300
HP:0000005	Mode of inheritance	29775	CARD10	OMIM:619632
HP:0000005	Mode of inheritance	55621	TRMT1	OMIM:618302
HP:0000005	Mode of inheritance	6905	TBCE	OMIM:241410
HP:0000005	Mode of inheritance	6905	TBCE	OMIM:244460
HP:0000005	Mode of inheritance	6905	TBCE	OMIM:617207
HP:0000005	Mode of inheritance	3982	LIM2	OMIM:615277
HP:0000005	Mode of inheritance	5593	PRKG2	OMIM:619638
HP:0000005	Mode of inheritance	5593	PRKG2	OMIM:619636
HP:0000005	Mode of inheritance	399	RHOH	OMIM:618307
HP:0000005	Mode of inheritance	9354	UBE4A	OMIM:619639
HP:0000005	Mode of inheritance	3574	IL7	OMIM:618309
HP:0000005	Mode of inheritance	55823	VPS11	OMIM:619637
HP:0000005	Mode of inheritance	55823	VPS11	OMIM:616683
HP:0000005	Mode of inheritance	6606	SMN1	OMIM:253400
HP:0000005	Mode of inheritance	6606	SMN1	OMIM:253300
HP:0000005	Mode of inheritance	6606	SMN1	OMIM:271150
HP:0000005	Mode of inheritance	6606	SMN1	OMIM:253550
HP:0000005	Mode of inheritance	6607	SMN2	OMIM:253400
HP:0000005	Mode of inheritance	3507	IGHM	OMIM:601495
HP:0000005	Mode of inheritance	54828	BCAS3	OMIM:619641
HP:0000005	Mode of inheritance	6305	SBF1	OMIM:615284
HP:0000005	Mode of inheritance	1615	DARS1	OMIM:615281
HP:0000005	Mode of inheritance	431705	ASTL	OMIM:619643
HP:0000005	Mode of inheritance	57169	ZNFX1	OMIM:619644
HP:0000005	Mode of inheritance	11041	B4GAT1	OMIM:615287
HP:0000005	Mode of inheritance	11311	VPS45	OMIM:615285
HP:0000005	Mode of inheritance	51102	MECR	OMIM:620629
HP:0000005	Mode of inheritance	51102	MECR	OMIM:617282
HP:0000005	Mode of inheritance	113179	ADAT3	OMIM:615286
HP:0000005	Mode of inheritance	23187	PHLDB1	OMIM:620639
HP:0000005	Mode of inheritance	145645	TERB2	OMIM:619645
HP:0000005	Mode of inheritance	2314	FLII	OMIM:620635
HP:0000005	Mode of inheritance	283847	TERB1	OMIM:619646
HP:0000005	Mode of inheritance	55072	RNF31	OMIM:620632
HP:0000005	Mode of inheritance	9772	TMEM94	OMIM:618316
HP:0000005	Mode of inheritance	79971	WLS	OMIM:619648
HP:0000005	Mode of inheritance	57462	MYORG	OMIM:618317
HP:0000005	Mode of inheritance	29958	DMGDH	OMIM:605850
HP:0000005	Mode of inheritance	3373	HYAL1	OMIM:601492
HP:0000005	Mode of inheritance	1491	CTH	OMIM:219500
HP:0000005	Mode of inheritance	92749	DRC1	OMIM:615294
HP:0000005	Mode of inheritance	92749	DRC1	OMIM:620222
HP:0000005	Mode of inheritance	55739	NAXD	OMIM:618321
HP:0000005	Mode of inheritance	5966	REL	OMIM:619652
HP:0000005	Mode of inheritance	7143	TNR	OMIM:619653
HP:0000005	Mode of inheritance	197258	FCSK	OMIM:618324
HP:0000005	Mode of inheritance	2694	CBLIF	OMIM:261000
HP:0000005	Mode of inheritance	285203	EOGT	OMIM:615297
HP:0000005	Mode of inheritance	125988	MICOS13	OMIM:618329
HP:0000005	Mode of inheritance	54148	MRPL39	OMIM:620646
HP:0000005	Mode of inheritance	54532	USP53	OMIM:619658
HP:0000005	Mode of inheritance	4733	DRG1	OMIM:620641
HP:0000005	Mode of inheritance	79645	CLXN	OMIM:620642
HP:0000005	Mode of inheritance	2055	CLN8	OMIM:600143
HP:0000005	Mode of inheritance	2055	CLN8	OMIM:610003
HP:0000005	Mode of inheritance	23514	SPIDR	OMIM:619665
HP:0000005	Mode of inheritance	54101	RIPK4	OMIM:263650
HP:0000005	Mode of inheritance	54101	RIPK4	OMIM:214350
HP:0000005	Mode of inheritance	51693	TRAPPC2L	OMIM:618331
HP:0000005	Mode of inheritance	113220	KIF12	OMIM:619662
HP:0000005	Mode of inheritance	120	ADD3	OMIM:617008
HP:0000005	Mode of inheritance	7535	ZAP70	OMIM:617006
HP:0000005	Mode of inheritance	7535	ZAP70	OMIM:269840
HP:0000005	Mode of inheritance	5910	RAP1GDS1	OMIM:620655
HP:0000005	Mode of inheritance	835	CASP2	OMIM:620653
HP:0000005	Mode of inheritance	7873	MANF	OMIM:620651
HP:0000005	Mode of inheritance	64132	XYLT2	OMIM:605822
HP:0000005	Mode of inheritance	64132	XYLT2	OMIM:264800
HP:0000005	Mode of inheritance	7287	TULP1	OMIM:600132
HP:0000005	Mode of inheritance	7287	TULP1	OMIM:613843
HP:0000005	Mode of inheritance	6448	SGSH	OMIM:252900
HP:0000005	Mode of inheritance	8925	HERC1	OMIM:617011
HP:0000005	Mode of inheritance	196	AHR	OMIM:618345
HP:0000005	Mode of inheritance	10785	WDR4	OMIM:618346
HP:0000005	Mode of inheritance	10785	WDR4	OMIM:618347
HP:0000005	Mode of inheritance	84074	QRICH2	OMIM:618341
HP:0000005	Mode of inheritance	10734	STAG3	OMIM:619672
HP:0000005	Mode of inheritance	10734	STAG3	OMIM:615723
HP:0000005	Mode of inheritance	285498	RNF212	OMIM:619673
HP:0000005	Mode of inheritance	54517	PUS7	OMIM:618342
HP:0000005	Mode of inheritance	10564	ARFGEF2	OMIM:608097
HP:0000005	Mode of inheritance	1798	DPAGT1	OMIM:608093
HP:0000005	Mode of inheritance	1798	DPAGT1	OMIM:614750
HP:0000005	Mode of inheritance	57122	NUP107	OMIM:618348
HP:0000005	Mode of inheritance	57122	NUP107	OMIM:618078
HP:0000005	Mode of inheritance	57122	NUP107	OMIM:616730
HP:0000005	Mode of inheritance	55746	NUP133	OMIM:618349
HP:0000005	Mode of inheritance	55746	NUP133	OMIM:618177
HP:0000005	Mode of inheritance	51259	TMEM216	OMIM:608091
HP:0000005	Mode of inheritance	51259	TMEM216	OMIM:603194
HP:0000005	Mode of inheritance	51117	COQ4	OMIM:620666
HP:0000005	Mode of inheritance	51117	COQ4	OMIM:616276
HP:0000005	Mode of inheritance	56623	INPP5E	OMIM:213300
HP:0000005	Mode of inheritance	56623	INPP5E	OMIM:610156
HP:0000005	Mode of inheritance	90459	ERI1	OMIM:620663
HP:0000005	Mode of inheritance	90459	ERI1	OMIM:620662
HP:0000005	Mode of inheritance	1950	EGF	OMIM:611718
HP:0000005	Mode of inheritance	6442	SGCA	OMIM:608099
HP:0000005	Mode of inheritance	56945	MRPS22	OMIM:611719
HP:0000005	Mode of inheritance	56945	MRPS22	OMIM:618117
HP:0000005	Mode of inheritance	10165	SLC25A13	OMIM:605814
HP:0000005	Mode of inheritance	10165	SLC25A13	OMIM:603471
HP:0000005	Mode of inheritance	55315	SLC29A3	OMIM:602782
HP:0000005	Mode of inheritance	8540	AGPS	OMIM:600121
HP:0000005	Mode of inheritance	5896	RAG1	OMIM:601457
HP:0000005	Mode of inheritance	5896	RAG1	OMIM:233650
HP:0000005	Mode of inheritance	5896	RAG1	OMIM:603554
HP:0000005	Mode of inheritance	5897	RAG2	OMIM:601457
HP:0000005	Mode of inheritance	5897	RAG2	OMIM:233650
HP:0000005	Mode of inheritance	5897	RAG2	OMIM:603554
HP:0000005	Mode of inheritance	10397	NDRG1	OMIM:601455
HP:0000005	Mode of inheritance	55610	VPS50	OMIM:619685
HP:0000005	Mode of inheritance	23395	LARS2	OMIM:617021
HP:0000005	Mode of inheritance	23395	LARS2	OMIM:615300
HP:0000005	Mode of inheritance	23114	NFASC	OMIM:618356
HP:0000005	Mode of inheritance	64801	ARV1	OMIM:617020
HP:0000005	Mode of inheritance	55182	RNF220	OMIM:619688
HP:0000005	Mode of inheritance	116461	TSEN15	OMIM:617026
HP:0000005	Mode of inheritance	55262	TRAPPC14	OMIM:618351
HP:0000005	Mode of inheritance	7783	ZP2	OMIM:618353
HP:0000005	Mode of inheritance	60509	AGBL5	OMIM:617023
HP:0000005	Mode of inheritance	23043	TNIK	OMIM:617028
HP:0000005	Mode of inheritance	140801	RPL10L	OMIM:619689
HP:0000005	Mode of inheritance	11190	CEP250	OMIM:618358
HP:0000005	Mode of inheritance	154881	KCTD7	OMIM:611726
HP:0000005	Mode of inheritance	346007	EYS	OMIM:602772
HP:0000005	Mode of inheritance	5934	RBL2	OMIM:619690
HP:0000005	Mode of inheritance	57190	SELENON	OMIM:602771
HP:0000005	Mode of inheritance	79709	COLGALT1	OMIM:618360
HP:0000005	Mode of inheritance	286151	FBXO43	OMIM:619696
HP:0000005	Mode of inheritance	286151	FBXO43	OMIM:619697
HP:0000005	Mode of inheritance	153642	ARSK	OMIM:619698
HP:0000005	Mode of inheritance	10588	MTHFS	OMIM:618367
HP:0000005	Mode of inheritance	22930	RAB3GAP1	OMIM:600118
HP:0000005	Mode of inheritance	22930	RAB3GAP1	OMIM:619420
HP:0000005	Mode of inheritance	51434	ANAPC7	OMIM:619699
HP:0000005	Mode of inheritance	122622	ADSS1	OMIM:617030
HP:0000005	Mode of inheritance	7922	SLC39A7	OMIM:619693
HP:0000005	Mode of inheritance	84068	SLC10A7	OMIM:618363
HP:0000005	Mode of inheritance	6718	AKR1D1	OMIM:235555
HP:0000005	Mode of inheritance	54834	GDAP2	OMIM:618369
HP:0000005	Mode of inheritance	3431	SP110	OMIM:235550
HP:0000005	Mode of inheritance	254528	MEIOB	OMIM:620686
HP:0000005	Mode of inheritance	254528	MEIOB	OMIM:617706
HP:0000005	Mode of inheritance	11145	PLAAT3	OMIM:620683
HP:0000005	Mode of inheritance	10083	USH1C	OMIM:276900
HP:0000005	Mode of inheritance	10083	USH1C	OMIM:276904
HP:0000005	Mode of inheritance	10083	USH1C	OMIM:602092
HP:0000005	Mode of inheritance	378884	NHLRC1	OMIM:620681
HP:0000005	Mode of inheritance	5130	PCYT1A	OMIM:620680
HP:0000005	Mode of inheritance	5130	PCYT1A	OMIM:608940
HP:0000005	Mode of inheritance	7399	USH2A	OMIM:276901
HP:0000005	Mode of inheritance	7399	USH2A	OMIM:613809
HP:0000005	Mode of inheritance	79955	PDZD7	OMIM:276901
HP:0000005	Mode of inheritance	79955	PDZD7	OMIM:618003
HP:0000005	Mode of inheritance	79955	PDZD7	OMIM:605472
HP:0000005	Mode of inheritance	7086	TKT	OMIM:617044
HP:0000005	Mode of inheritance	63931	MRPS14	OMIM:618378
HP:0000005	Mode of inheritance	5321	PLA2G4A	OMIM:618372
HP:0000005	Mode of inheritance	10667	FARS2	OMIM:617046
HP:0000005	Mode of inheritance	10667	FARS2	OMIM:614946
HP:0000005	Mode of inheritance	9971	NR1H4	OMIM:617049
HP:0000005	Mode of inheritance	594	BCKDHB	OMIM:620698
HP:0000005	Mode of inheritance	1629	DBT	OMIM:620699
HP:0000005	Mode of inheritance	9294	S1PR2	OMIM:610419
HP:0000005	Mode of inheritance	83480	PUS3	OMIM:617051
HP:0000005	Mode of inheritance	8943	AP3D1	OMIM:617050
HP:0000005	Mode of inheritance	65260	COA7	OMIM:618387
HP:0000005	Mode of inheritance	55697	VAC14	OMIM:617054
HP:0000005	Mode of inheritance	5913	RAPSN	OMIM:618388
HP:0000005	Mode of inheritance	5913	RAPSN	OMIM:616326
HP:0000005	Mode of inheritance	1053	CEBPE	OMIM:260570
HP:0000005	Mode of inheritance	1053	CEBPE	OMIM:245480
HP:0000005	Mode of inheritance	285489	DOK7	OMIM:618389
HP:0000005	Mode of inheritance	285489	DOK7	OMIM:254300
HP:0000005	Mode of inheritance	134218	DNAJC21	OMIM:617052
HP:0000005	Mode of inheritance	134218	DNAJC21	OMIM:260400
HP:0000005	Mode of inheritance	27107	ZBTB11	OMIM:618383
HP:0000005	Mode of inheritance	64849	SLC13A3	OMIM:618384
HP:0000005	Mode of inheritance	84957	RELT	OMIM:618386
HP:0000005	Mode of inheritance	80184	CEP290	OMIM:611755
HP:0000005	Mode of inheritance	80184	CEP290	OMIM:615991
HP:0000005	Mode of inheritance	80184	CEP290	OMIM:610188
HP:0000005	Mode of inheritance	80184	CEP290	OMIM:610189
HP:0000005	Mode of inheritance	80184	CEP290	OMIM:611134
HP:0000005	Mode of inheritance	57010	CABP4	OMIM:610427
HP:0000005	Mode of inheritance	162417	NAGS	OMIM:237310
HP:0000005	Mode of inheritance	8720	MBTPS1	OMIM:618392
HP:0000005	Mode of inheritance	4927	NUP88	OMIM:618393
HP:0000005	Mode of inheritance	9325	TRIP4	OMIM:617066
HP:0000005	Mode of inheritance	9325	TRIP4	OMIM:616866
HP:0000005	Mode of inheritance	84868	HAVCR2	OMIM:618398
HP:0000005	Mode of inheritance	60558	GUF1	OMIM:617065
HP:0000005	Mode of inheritance	8318	CDC45	OMIM:617063
HP:0000005	Mode of inheritance	9326	ZNHIT3	OMIM:260565
HP:0000005	Mode of inheritance	23233	EXOC6B	OMIM:618395
HP:0000005	Mode of inheritance	7084	TK2	OMIM:617069
HP:0000005	Mode of inheritance	7084	TK2	OMIM:609560
HP:0000005	Mode of inheritance	1716	DGUOK	OMIM:617068
HP:0000005	Mode of inheritance	1716	DGUOK	OMIM:617070
HP:0000005	Mode of inheritance	1716	DGUOK	OMIM:251880
HP:0000005	Mode of inheritance	84340	GFM2	OMIM:618397
HP:0000005	Mode of inheritance	2799	GNS	OMIM:252940
HP:0000005	Mode of inheritance	26092	TOR1AIP1	OMIM:617072
HP:0000005	Mode of inheritance	2203	FBP1	OMIM:229700
HP:0000005	Mode of inheritance	51594	NBAS	OMIM:614800
HP:0000005	Mode of inheritance	51594	NBAS	OMIM:616483
HP:0000005	Mode of inheritance	54187	NANS	OMIM:610442
HP:0000005	Mode of inheritance	138050	HGSNAT	OMIM:252930
HP:0000005	Mode of inheritance	138050	HGSNAT	OMIM:616544
HP:0000005	Mode of inheritance	50617	ATP6V0A4	OMIM:602722
HP:0000005	Mode of inheritance	51626	DYNC2LI1	OMIM:617088
HP:0000005	Mode of inheritance	56947	MFF	OMIM:617086
HP:0000005	Mode of inheritance	26123	TCTN3	OMIM:614815
HP:0000005	Mode of inheritance	26123	TCTN3	OMIM:258860
HP:0000005	Mode of inheritance	27445	PCLO	OMIM:608027
HP:0000005	Mode of inheritance	1373	CPS1	OMIM:237300
HP:0000005	Mode of inheritance	25886	POC1A	OMIM:614813
HP:0000005	Mode of inheritance	4053	LTBP2	OMIM:614819
HP:0000005	Mode of inheritance	4053	LTBP2	OMIM:600975
HP:0000005	Mode of inheritance	4053	LTBP2	OMIM:251750
HP:0000005	Mode of inheritance	4053	LTBP2	OMIM:613086
HP:0000005	Mode of inheritance	22909	FAN1	OMIM:614817
HP:0000005	Mode of inheritance	168667	BMPER	OMIM:608022
HP:0000005	Mode of inheritance	64374	SIL1	OMIM:248800
HP:0000005	Mode of inheritance	26128	KIFBP	OMIM:609460
HP:0000005	Mode of inheritance	80308	FLAD1	OMIM:255100
HP:0000005	Mode of inheritance	25821	MTO1	OMIM:614702
HP:0000005	Mode of inheritance	987	LRBA	OMIM:614700
HP:0000005	Mode of inheritance	126792	B3GALT6	OMIM:609465
HP:0000005	Mode of inheritance	126792	B3GALT6	OMIM:271640
HP:0000005	Mode of inheritance	126792	B3GALT6	OMIM:615349
HP:0000005	Mode of inheritance	79581	SLC52A2	OMIM:614707
HP:0000005	Mode of inheritance	9401	RECQL4	OMIM:268400
HP:0000005	Mode of inheritance	9401	RECQL4	OMIM:218600
HP:0000005	Mode of inheritance	9401	RECQL4	OMIM:266280
HP:0000005	Mode of inheritance	89910	UBE3B	OMIM:244450
HP:0000005	Mode of inheritance	55788	LMBRD1	OMIM:277380
HP:0000005	Mode of inheritance	169522	KCNV2	OMIM:610356
HP:0000005	Mode of inheritance	54476	RNF216	OMIM:212840
HP:0000005	Mode of inheritance	84690	SPATA22	OMIM:621002
HP:0000005	Mode of inheritance	84690	SPATA22	OMIM:621001
HP:0000005	Mode of inheritance	771	CA12	OMIM:143860
HP:0000005	Mode of inheritance	353	APRT	OMIM:614723
HP:0000005	Mode of inheritance	129607	CMPK2	OMIM:621018
HP:0000005	Mode of inheritance	8942	KYNU	OMIM:236800
HP:0000005	Mode of inheritance	8942	KYNU	OMIM:617661
HP:0000005	Mode of inheritance	55858	TMEM165	OMIM:614727
HP:0000005	Mode of inheritance	80254	CEP63	OMIM:614728
HP:0000005	Mode of inheritance	64087	MCCC2	OMIM:210210
HP:0000005	Mode of inheritance	10518	CIB2	OMIM:609439
HP:0000005	Mode of inheritance	10518	CIB2	OMIM:614869
HP:0000005	Mode of inheritance	7374	UNG	OMIM:608106
HP:0000005	Mode of inheritance	50674	NEUROG3	OMIM:610370
HP:0000005	Mode of inheritance	1591	CYP24A1	OMIM:143880
HP:0000005	Mode of inheritance	11284	PNKP	OMIM:613402
HP:0000005	Mode of inheritance	11284	PNKP	OMIM:616267
HP:0000005	Mode of inheritance	11284	PNKP	OMIM:605589
HP:0000005	Mode of inheritance	56922	MCCC1	OMIM:210200
HP:0000005	Mode of inheritance	63894	VIPAS39	OMIM:613404
HP:0000005	Mode of inheritance	84947	SERAC1	OMIM:614739
HP:0000005	Mode of inheritance	23530	NNT	OMIM:614736
HP:0000005	Mode of inheritance	113278	SLC52A3	OMIM:211530
HP:0000005	Mode of inheritance	113278	SLC52A3	OMIM:211500
HP:0000005	Mode of inheritance	727857	BHLHA9	OMIM:609432
HP:0000005	Mode of inheritance	727857	BHLHA9	OMIM:607539
HP:0000005	Mode of inheritance	57217	TTC7A	OMIM:243150
HP:0000005	Mode of inheritance	51660	MPC1	OMIM:614741
HP:0000005	Mode of inheritance	6011	GRK1	OMIM:613411
HP:0000005	Mode of inheritance	3211	HOXB1	OMIM:614744
HP:0000005	Mode of inheritance	84720	PIGO	OMIM:614749
HP:0000005	Mode of inheritance	11128	POLR3A	OMIM:264090
HP:0000005	Mode of inheritance	11128	POLR3A	OMIM:607694
HP:0000005	Mode of inheritance	3675	ITGA3	OMIM:614748
HP:0000005	Mode of inheritance	80025	PANK2	OMIM:234200
HP:0000005	Mode of inheritance	23503	ZFYVE26	OMIM:270700
HP:0000005	Mode of inheritance	388939	PCARE	OMIM:613428
HP:0000005	Mode of inheritance	5241	PGR	OMIM:264080
HP:0000005	Mode of inheritance	5092	PCBD1	OMIM:264070
HP:0000005	Mode of inheritance	1374	CPT1A	OMIM:255120
HP:0000005	Mode of inheritance	3166	HMX1	OMIM:612109
HP:0000005	Mode of inheritance	147372	CCBE1	OMIM:235510
HP:0000005	Mode of inheritance	23479	ISCU	OMIM:255125
HP:0000005	Mode of inheritance	54463	RETREG1	OMIM:201300
HP:0000005	Mode of inheritance	54463	RETREG1	OMIM:613115
HP:0000005	Mode of inheritance	220136	CFAP53	OMIM:614779
HP:0000005	Mode of inheritance	7407	VARS1	OMIM:617802
HP:0000005	Mode of inheritance	11181	TREH	OMIM:612119
HP:0000005	Mode of inheritance	3559	IL2RA	OMIM:606367
HP:0000005	Mode of inheritance	5269	SERPINB6	OMIM:613453
HP:0000005	Mode of inheritance	4688	NCF2	OMIM:233710
HP:0000005	Mode of inheritance	8733	GPAA1	OMIM:617810
HP:0000005	Mode of inheritance	8092	ALX1	OMIM:613456
HP:0000005	Mode of inheritance	57679	ALS2	OMIM:606353
HP:0000005	Mode of inheritance	57679	ALS2	OMIM:205100
HP:0000005	Mode of inheritance	57679	ALS2	OMIM:607225
HP:0000005	Mode of inheritance	5279	PIGC	OMIM:617816
HP:0000005	Mode of inheritance	27329	ANGPTL3	OMIM:605019
HP:0000005	Mode of inheritance	91147	TMEM67	OMIM:216360
HP:0000005	Mode of inheritance	91147	TMEM67	OMIM:615991
HP:0000005	Mode of inheritance	91147	TMEM67	OMIM:607361
HP:0000005	Mode of inheritance	91147	TMEM67	OMIM:602152
HP:0000005	Mode of inheritance	91147	TMEM67	OMIM:610688
HP:0000005	Mode of inheritance	91147	TMEM67	OMIM:613550
HP:0000005	Mode of inheritance	84162	BLTP1	OMIM:617822
HP:0000005	Mode of inheritance	123016	TTC8	OMIM:613464
HP:0000005	Mode of inheritance	123016	TTC8	OMIM:615985
HP:0000005	Mode of inheritance	1806	DPYD	OMIM:274270
HP:0000005	Mode of inheritance	10587	TXNRD2	OMIM:617825
HP:0000005	Mode of inheritance	54820	NDE1	OMIM:605013
HP:0000005	Mode of inheritance	54820	NDE1	OMIM:614019
HP:0000005	Mode of inheritance	51135	IRAK4	OMIM:607676
HP:0000005	Mode of inheritance	9837	GINS1	OMIM:617827
HP:0000005	Mode of inheritance	145873	MESP2	OMIM:277300
HP:0000005	Mode of inheritance	145873	MESP2	OMIM:608681
HP:0000005	Mode of inheritance	10683	DLL3	OMIM:277300
HP:0000005	Mode of inheritance	2733	GLE1	OMIM:253310
HP:0000005	Mode of inheritance	2733	GLE1	OMIM:611890
HP:0000005	Mode of inheritance	2821	GPI	OMIM:613470
HP:0000005	Mode of inheritance	128338	DRAM2	OMIM:616502
HP:0000005	Mode of inheritance	10560	SLC19A2	OMIM:249270
HP:0000005	Mode of inheritance	388753	COA6	OMIM:616501
HP:0000005	Mode of inheritance	493753	COA5	OMIM:616500
HP:0000005	Mode of inheritance	91137	SLC25A46	OMIM:616505
HP:0000005	Mode of inheritance	91137	SLC25A46	OMIM:619303
HP:0000005	Mode of inheritance	57211	ADGRG6	OMIM:616503
HP:0000005	Mode of inheritance	4047	LSS	OMIM:616509
HP:0000005	Mode of inheritance	4047	LSS	OMIM:618275
HP:0000005	Mode of inheritance	4047	LSS	OMIM:618840
HP:0000005	Mode of inheritance	6678	SPARC	OMIM:616507
HP:0000005	Mode of inheritance	4982	TNFRSF11B	OMIM:239000
HP:0000005	Mode of inheritance	2632	GBE1	OMIM:263570
HP:0000005	Mode of inheritance	2632	GBE1	OMIM:232500
HP:0000005	Mode of inheritance	11315	PARK7	OMIM:606324
HP:0000005	Mode of inheritance	4891	SLC11A2	OMIM:206100
HP:0000005	Mode of inheritance	22926	ATF6	OMIM:616517
HP:0000005	Mode of inheritance	653361	NCF1	OMIM:233700
HP:0000005	Mode of inheritance	27019	DNAI1	OMIM:244400
HP:0000005	Mode of inheritance	5265	SERPINA1	OMIM:613490
HP:0000005	Mode of inheritance	931	MS4A1	OMIM:613495
HP:0000005	Mode of inheritance	975	CD81	OMIM:613496
HP:0000005	Mode of inheritance	131669	UROC1	OMIM:276880
HP:0000005	Mode of inheritance	3575	IL7R	OMIM:608971
HP:0000005	Mode of inheritance	8022	LHX3	OMIM:221750
HP:0000005	Mode of inheritance	122553	TRAPPC6B	OMIM:617862
HP:0000005	Mode of inheritance	112752	IFT43	OMIM:617866
HP:0000005	Mode of inheritance	112752	IFT43	OMIM:617871
HP:0000005	Mode of inheritance	112752	IFT43	OMIM:614099
HP:0000005	Mode of inheritance	50615	IL21R	OMIM:615207
HP:0000005	Mode of inheritance	57570	TRMT5	OMIM:616539
HP:0000005	Mode of inheritance	55612	FERMT1	OMIM:173650
HP:0000005	Mode of inheritance	1605	DAG1	OMIM:616538
HP:0000005	Mode of inheritance	1605	DAG1	OMIM:613818
HP:0000005	Mode of inheritance	9076	CLDN1	OMIM:607626
HP:0000005	Mode of inheritance	925	CD8A	OMIM:608957
HP:0000005	Mode of inheritance	10577	NPC2	OMIM:607625
HP:0000005	Mode of inheritance	5873	RAB27A	OMIM:607624
HP:0000005	Mode of inheritance	54802	TRIT1	OMIM:617873
HP:0000005	Mode of inheritance	7518	XRCC4	OMIM:616541
HP:0000005	Mode of inheritance	51081	MRPS7	OMIM:617872
HP:0000005	Mode of inheritance	9786	KIAA0586	OMIM:616546
HP:0000005	Mode of inheritance	9786	KIAA0586	OMIM:616490
HP:0000005	Mode of inheritance	178	AGL	OMIM:232400
HP:0000005	Mode of inheritance	4724	NDUFS4	OMIM:252010
HP:0000005	Mode of inheritance	84700	MYO18B	OMIM:616549
HP:0000005	Mode of inheritance	8777	MPDZ	OMIM:615219
HP:0000005	Mode of inheritance	23533	PIK3R5	OMIM:615217
HP:0000005	Mode of inheritance	6609	SMPD1	OMIM:607616
HP:0000005	Mode of inheritance	6609	SMPD1	OMIM:257200
HP:0000005	Mode of inheritance	7305	TYROBP	OMIM:221770
HP:0000005	Mode of inheritance	83452	RAB33B	OMIM:615222
HP:0000005	Mode of inheritance	7471	WNT1	OMIM:615220
HP:0000005	Mode of inheritance	80169	CTC1	OMIM:612199
HP:0000005	Mode of inheritance	7700	ZNF141	OMIM:615226
HP:0000005	Mode of inheritance	109	ADCY3	OMIM:617885
HP:0000005	Mode of inheritance	246329	STAC3	OMIM:255995
HP:0000005	Mode of inheritance	3689	ITGB2	OMIM:116920
HP:0000005	Mode of inheritance	229	ALDOB	OMIM:229600
HP:0000005	Mode of inheritance	9853	RUSC2	OMIM:617773
HP:0000005	Mode of inheritance	9860	LRIG2	OMIM:615112
HP:0000005	Mode of inheritance	84818	IL17RC	OMIM:616445
HP:0000005	Mode of inheritance	220	ALDH1A3	OMIM:615113
HP:0000005	Mode of inheritance	1355	COX15	OMIM:615119
HP:0000005	Mode of inheritance	81857	MED25	OMIM:616449
HP:0000005	Mode of inheritance	81857	MED25	OMIM:605589
HP:0000005	Mode of inheritance	2720	GLB1	OMIM:230600
HP:0000005	Mode of inheritance	2720	GLB1	OMIM:230650
HP:0000005	Mode of inheritance	2720	GLB1	OMIM:230500
HP:0000005	Mode of inheritance	2720	GLB1	OMIM:253010
HP:0000005	Mode of inheritance	55733	HHAT	OMIM:600092
HP:0000005	Mode of inheritance	267010	RNU12	OMIM:603116
HP:0000005	Mode of inheritance	267010	RNU12	OMIM:620208
HP:0000005	Mode of inheritance	7259	TSPYL1	OMIM:608800
HP:0000005	Mode of inheritance	9742	IFT140	OMIM:617781
HP:0000005	Mode of inheritance	9742	IFT140	OMIM:266920
HP:0000005	Mode of inheritance	4522	MTHFD1	OMIM:617780
HP:0000005	Mode of inheritance	4522	MTHFD1	OMIM:601634
HP:0000005	Mode of inheritance	939	CD27	OMIM:615122
HP:0000005	Mode of inheritance	55159	RFWD3	OMIM:617784
HP:0000005	Mode of inheritance	375790	AGRN	OMIM:615120
HP:0000005	Mode of inheritance	25959	KANK2	OMIM:617783
HP:0000005	Mode of inheritance	25959	KANK2	OMIM:616099
HP:0000005	Mode of inheritance	200205	IBA57	OMIM:616451
HP:0000005	Mode of inheritance	200205	IBA57	OMIM:615330
HP:0000005	Mode of inheritance	790	CAD	OMIM:616457
HP:0000005	Mode of inheritance	54982	CLN6	OMIM:204300
HP:0000005	Mode of inheritance	54982	CLN6	OMIM:601780
HP:0000005	Mode of inheritance	28960	DCPS	OMIM:616459
HP:0000005	Mode of inheritance	120227	CYP2R1	OMIM:600081
HP:0000005	Mode of inheritance	80153	EDC3	OMIM:616460
HP:0000005	Mode of inheritance	2937	GSS	OMIM:231900
HP:0000005	Mode of inheritance	2937	GSS	OMIM:266130
HP:0000005	Mode of inheritance	152926	PPM1K	OMIM:615135
HP:0000005	Mode of inheritance	55714	TENM3	OMIM:615145
HP:0000005	Mode of inheritance	246243	RNASEH1	OMIM:616479
HP:0000005	Mode of inheritance	83861	RSPH3	OMIM:616481
HP:0000005	Mode of inheritance	85301	COL27A1	OMIM:615155
HP:0000005	Mode of inheritance	84879	MFSD2A	OMIM:616486
HP:0000005	Mode of inheritance	27089	UQCRQ	OMIM:615159
HP:0000005	Mode of inheritance	1001	CDH3	OMIM:225280
HP:0000005	Mode of inheritance	1001	CDH3	OMIM:601553
HP:0000005	Mode of inheritance	9453	GGPS1	OMIM:619518
HP:0000005	Mode of inheritance	54902	TTC19	OMIM:615157
HP:0000005	Mode of inheritance	6023	RMRP	OMIM:250250
HP:0000005	Mode of inheritance	6023	RMRP	OMIM:250460
HP:0000005	Mode of inheritance	6023	RMRP	OMIM:607095
HP:0000005	Mode of inheritance	7381	UQCRB	OMIM:615158
HP:0000005	Mode of inheritance	59335	PRDM12	OMIM:616488
HP:0000005	Mode of inheritance	2550	GABBR1	OMIM:620502
HP:0000005	Mode of inheritance	196385	DNAH10	OMIM:619515
HP:0000005	Mode of inheritance	49	ACR	OMIM:620500
HP:0000005	Mode of inheritance	148867	SLC30A7	OMIM:620501
HP:0000005	Mode of inheritance	150468	CKAP2L	OMIM:272440
HP:0000005	Mode of inheritance	8898	MTMR2	OMIM:601382
HP:0000005	Mode of inheritance	9533	POLR1C	OMIM:616494
HP:0000005	Mode of inheritance	9533	POLR1C	OMIM:248390
HP:0000005	Mode of inheritance	7385	UQCRC2	OMIM:615160
HP:0000005	Mode of inheritance	150274	HSCB	OMIM:619523
HP:0000005	Mode of inheritance	3972	LHB	OMIM:228300
HP:0000005	Mode of inheritance	154197	PNLDC1	OMIM:619528
HP:0000005	Mode of inheritance	6621	SNAPC4	OMIM:620515
HP:0000005	Mode of inheritance	51163	DBR1	OMIM:620510
HP:0000005	Mode of inheritance	51163	DBR1	OMIM:619441
HP:0000005	Mode of inheritance	10280	SIGMAR1	OMIM:605726
HP:0000005	Mode of inheritance	10280	SIGMAR1	OMIM:614373
HP:0000005	Mode of inheritance	83723	TLCD3B	OMIM:619531
HP:0000005	Mode of inheritance	22906	TRAK1	OMIM:618201
HP:0000005	Mode of inheritance	79989	IFT56	OMIM:619534
HP:0000005	Mode of inheritance	10848	PPP1R13L	OMIM:620519
HP:0000005	Mode of inheritance	11152	WDR45	OMIM:615179
HP:0000005	Mode of inheritance	83938	LRMDA	OMIM:615179
HP:0000005	Mode of inheritance	2678	GGT1	OMIM:231950
HP:0000005	Mode of inheritance	148789	B3GALNT2	OMIM:615181
HP:0000005	Mode of inheritance	27247	NFU1	OMIM:605711
HP:0000005	Mode of inheritance	27247	NFU1	OMIM:620938
HP:0000005	Mode of inheritance	4883	NPR3	OMIM:619543
HP:0000005	Mode of inheritance	6576	SLC25A1	OMIM:615182
HP:0000005	Mode of inheritance	6576	SLC25A1	OMIM:618197
HP:0000005	Mode of inheritance	137392	CIBAR1	OMIM:618219
HP:0000005	Mode of inheritance	84888	SPPL2A	OMIM:619549
HP:0000005	Mode of inheritance	6730	SRP68	OMIM:620534
HP:0000005	Mode of inheritance	2879	GPX4	OMIM:250220
HP:0000005	Mode of inheritance	3912	LAMB1	OMIM:615191
HP:0000005	Mode of inheritance	2235	FECH	OMIM:177000
HP:0000005	Mode of inheritance	199713	NLRP7	OMIM:231090
HP:0000005	Mode of inheritance	4728	NDUFS8	OMIM:618222
HP:0000005	Mode of inheritance	374291	NDUFS7	OMIM:618224
HP:0000005	Mode of inheritance	4723	NDUFV1	OMIM:618225
HP:0000005	Mode of inheritance	9785	DHX38	OMIM:618220
HP:0000005	Mode of inheritance	79705	LRRK1	OMIM:615198
HP:0000005	Mode of inheritance	57102	FERRY3	OMIM:618221
HP:0000005	Mode of inheritance	147872	KASH5	OMIM:620548
HP:0000005	Mode of inheritance	147872	KASH5	OMIM:620547
HP:0000005	Mode of inheritance	4719	NDUFS1	OMIM:618226
HP:0000005	Mode of inheritance	83548	COG3	OMIM:620546
HP:0000005	Mode of inheritance	55628	ZNF407	OMIM:619557
HP:0000005	Mode of inheritance	4720	NDUFS2	OMIM:618228
HP:0000005	Mode of inheritance	4720	NDUFS2	OMIM:620569
HP:0000005	Mode of inheritance	170689	ADAMTS15	OMIM:620545
HP:0000005	Mode of inheritance	4729	NDUFV2	OMIM:618229
HP:0000005	Mode of inheritance	7443	VRK1	OMIM:620542
HP:0000005	Mode of inheritance	7443	VRK1	OMIM:607596
HP:0000005	Mode of inheritance	23363	OBSL1	OMIM:612921
HP:0000005	Mode of inheritance	6916	TBXAS1	OMIM:231095
HP:0000005	Mode of inheritance	91942	NDUFAF2	OMIM:618233
HP:0000005	Mode of inheritance	84909	AOPEP	OMIM:619565
HP:0000005	Mode of inheritance	51103	NDUFAF1	OMIM:618234
HP:0000005	Mode of inheritance	3714	JAG2	OMIM:619566
HP:0000005	Mode of inheritance	4695	NDUFA2	OMIM:618235
HP:0000005	Mode of inheritance	126328	NDUFA11	OMIM:618236
HP:0000005	Mode of inheritance	51119	SBDS	OMIM:260400
HP:0000005	Mode of inheritance	4722	NDUFS3	OMIM:618230
HP:0000005	Mode of inheritance	219854	TMEM218	OMIM:619562
HP:0000005	Mode of inheritance	147138	TMC8	OMIM:618231
HP:0000005	Mode of inheritance	4726	NDUFS6	OMIM:618232
HP:0000005	Mode of inheritance	29078	NDUFAF4	OMIM:618237
HP:0000005	Mode of inheritance	79133	NDUFAF5	OMIM:618238
HP:0000005	Mode of inheritance	137682	NDUFAF6	OMIM:618239
HP:0000005	Mode of inheritance	137682	NDUFAF6	OMIM:618913
HP:0000005	Mode of inheritance	1130	LYST	OMIM:214500
HP:0000005	Mode of inheritance	3939	LDHA	OMIM:612933
HP:0000005	Mode of inheritance	2027	ENO3	OMIM:612932
HP:0000005	Mode of inheritance	165829	GPR156	OMIM:620551
HP:0000005	Mode of inheritance	54344	DPM3	OMIM:612937
HP:0000005	Mode of inheritance	54344	DPM3	OMIM:618992
HP:0000005	Mode of inheritance	9179	AP4M1	OMIM:612936
HP:0000005	Mode of inheritance	79944	L2HGDH	OMIM:236792
HP:0000005	Mode of inheritance	79068	FTO	OMIM:612938
HP:0000005	Mode of inheritance	55967	NDUFA12	OMIM:618244
HP:0000005	Mode of inheritance	4715	NDUFB9	OMIM:618245
HP:0000005	Mode of inheritance	56915	EXOSC5	OMIM:619576
HP:0000005	Mode of inheritance	4709	NDUFB3	OMIM:618246
HP:0000005	Mode of inheritance	4704	NDUFA9	OMIM:618247
HP:0000005	Mode of inheritance	25915	NDUFAF3	OMIM:618240
HP:0000005	Mode of inheritance	55572	FOXRED1	OMIM:618241
HP:0000005	Mode of inheritance	80224	NUBPL	OMIM:618242
HP:0000005	Mode of inheritance	50619	DEF6	OMIM:619573
HP:0000005	Mode of inheritance	4705	NDUFA10	OMIM:618243
HP:0000005	Mode of inheritance	5831	PYCR1	OMIM:612940
HP:0000005	Mode of inheritance	5831	PYCR1	OMIM:614438
HP:0000005	Mode of inheritance	123263	MTFMT	OMIM:618248
HP:0000005	Mode of inheritance	123263	MTFMT	OMIM:614947
HP:0000005	Mode of inheritance	51079	NDUFA13	OMIM:618249
HP:0000005	Mode of inheritance	9820	CUL7	OMIM:273750
HP:0000005	Mode of inheritance	92344	GORAB	OMIM:231070
HP:0000005	Mode of inheritance	10092	ARPC5	OMIM:620565
HP:0000005	Mode of inheritance	2218	FKTN	OMIM:611615
HP:0000005	Mode of inheritance	2218	FKTN	OMIM:611588
HP:0000005	Mode of inheritance	2218	FKTN	OMIM:613152
HP:0000005	Mode of inheritance	2218	FKTN	OMIM:253800
HP:0000005	Mode of inheritance	2218	FKTN	OMIM:236670
HP:0000005	Mode of inheritance	23203	PMPCA	OMIM:213200
HP:0000005	Mode of inheritance	8604	SLC25A12	OMIM:612949
HP:0000005	Mode of inheritance	55863	TMEM126B	OMIM:618250
HP:0000005	Mode of inheritance	27031	NPHP3	OMIM:267010
HP:0000005	Mode of inheritance	27031	NPHP3	OMIM:604387
HP:0000005	Mode of inheritance	27031	NPHP3	OMIM:208540
HP:0000005	Mode of inheritance	6795	AURKC	OMIM:243060
HP:0000005	Mode of inheritance	55814	BDP1	OMIM:618257
HP:0000005	Mode of inheritance	51300	TIMMDC1	OMIM:618251
HP:0000005	Mode of inheritance	80173	IFT74	OMIM:619582
HP:0000005	Mode of inheritance	80173	IFT74	OMIM:619585
HP:0000005	Mode of inheritance	80173	IFT74	OMIM:617119
HP:0000005	Mode of inheritance	4714	NDUFB8	OMIM:618252
HP:0000005	Mode of inheritance	4700	NDUFA6	OMIM:618253
HP:0000005	Mode of inheritance	115399	LRRC56	OMIM:618254
HP:0000005	Mode of inheritance	8635	RNASET2	OMIM:612951
HP:0000005	Mode of inheritance	1200	TPP1	OMIM:609270
HP:0000005	Mode of inheritance	1200	TPP1	OMIM:204500
HP:0000005	Mode of inheritance	8398	PLA2G6	OMIM:612953
HP:0000005	Mode of inheritance	8398	PLA2G6	OMIM:610217
HP:0000005	Mode of inheritance	8398	PLA2G6	OMIM:256600
HP:0000005	Mode of inheritance	9244	CRLF1	OMIM:272430
HP:0000005	Mode of inheritance	164781	DAW1	OMIM:620570
HP:0000005	Mode of inheritance	970	CD70	OMIM:618261
HP:0000005	Mode of inheritance	80347	COASY	OMIM:618266
HP:0000005	Mode of inheritance	80347	COASY	OMIM:615643
HP:0000005	Mode of inheritance	54507	ADAMTSL4	OMIM:225200
HP:0000005	Mode of inheritance	54507	ADAMTSL4	OMIM:225100
HP:0000005	Mode of inheritance	64841	GNPNAT1	OMIM:619598
HP:0000005	Mode of inheritance	10519	CIB1	OMIM:618267
HP:0000005	Mode of inheritance	57003	CCDC47	OMIM:618268
HP:0000005	Mode of inheritance	27349	MCAT	OMIM:620583
HP:0000005	Mode of inheritance	374354	NHLRC2	OMIM:618278
HP:0000005	Mode of inheritance	64131	XYLT1	OMIM:264800
HP:0000005	Mode of inheritance	64131	XYLT1	OMIM:615777
HP:0000005	Mode of inheritance	23287	AGTPBP1	OMIM:618276
HP:0000005	Mode of inheritance	64093	SMOC1	OMIM:206920
HP:0000005	Mode of inheritance	23529	CLCF1	OMIM:610313
HP:0000005	Mode of inheritance	60681	FKBP10	OMIM:259450
HP:0000005	Mode of inheritance	60681	FKBP10	OMIM:610968
HP:0000005	Mode of inheritance	9657	IQCB1	OMIM:609254
HP:0000005	Mode of inheritance	84905	ZNF341	OMIM:618282
HP:0000005	Mode of inheritance	4140	MARK3	OMIM:618283
HP:0000005	Mode of inheritance	3739	KCNA4	OMIM:618284
HP:0000005	Mode of inheritance	4668	NAGA	OMIM:609241
HP:0000005	Mode of inheritance	4668	NAGA	OMIM:609242
HP:0000005	Mode of inheritance	9487	PIGL	OMIM:280000
HP:0000005	Mode of inheritance	5479	PPIB	OMIM:259440
HP:0000005	Mode of inheritance	84233	TMEM126A	OMIM:612989
HP:0000005	Mode of inheritance	84153	RNASEH2C	OMIM:610329
HP:0000005	Mode of inheritance	1795	DOCK3	OMIM:618292
HP:0000005	Mode of inheritance	5257	PHKB	OMIM:261750
HP:0000005	Mode of inheritance	8665	EIF3F	OMIM:618295
HP:0000005	Mode of inheritance	10535	RNASEH2A	OMIM:610333
HP:0000005	Mode of inheritance	117144	CATSPER1	OMIM:612997
HP:0000005	Mode of inheritance	161497	STRC	OMIM:612997
HP:0000005	Mode of inheritance	161497	STRC	OMIM:603720
HP:0000005	Mode of inheritance	161497	STRC	OMIM:611102
HP:0000005	Mode of inheritance	117155	CATSPER2	OMIM:612997
HP:0000005	Mode of inheritance	117155	CATSPER2	OMIM:611102
HP:0000005	Mode of inheritance	1534	CYB561	OMIM:618182
HP:0000005	Mode of inheritance	83483	PLVAP	OMIM:618183
HP:0000005	Mode of inheritance	54084	TSPEAR	OMIM:618180
HP:0000005	Mode of inheritance	54084	TSPEAR	OMIM:620173
HP:0000005	Mode of inheritance	54084	TSPEAR	OMIM:614861
HP:0000005	Mode of inheritance	79717	PPCS	OMIM:618189
HP:0000005	Mode of inheritance	8506	CNTNAP1	OMIM:618186
HP:0000005	Mode of inheritance	8506	CNTNAP1	OMIM:616286
HP:0000005	Mode of inheritance	55503	TRPV6	OMIM:618188
HP:0000005	Mode of inheritance	80821	DDHD1	OMIM:609340
HP:0000005	Mode of inheritance	494513	PJVK	OMIM:610220
HP:0000005	Mode of inheritance	84515	MCM8	OMIM:612885
HP:0000005	Mode of inheritance	8195	MKKS	OMIM:236700
HP:0000005	Mode of inheritance	8195	MKKS	OMIM:605231
HP:0000005	Mode of inheritance	2997	GYS1	OMIM:611556
HP:0000005	Mode of inheritance	55624	POMGNT1	OMIM:253280
HP:0000005	Mode of inheritance	55624	POMGNT1	OMIM:613151
HP:0000005	Mode of inheritance	55624	POMGNT1	OMIM:613157
HP:0000005	Mode of inheritance	55624	POMGNT1	OMIM:617123
HP:0000005	Mode of inheritance	3291	HSD11B2	OMIM:218030
HP:0000005	Mode of inheritance	5111	PCNA	OMIM:615919
HP:0000005	Mode of inheritance	57176	VARS2	OMIM:615917
HP:0000005	Mode of inheritance	80222	TARS2	OMIM:615918
HP:0000005	Mode of inheritance	54209	TREM2	OMIM:618193
HP:0000005	Mode of inheritance	49855	SCAPER	OMIM:618195
HP:0000005	Mode of inheritance	3909	LAMA3	OMIM:245660
HP:0000005	Mode of inheritance	3909	LAMA3	OMIM:226700
HP:0000005	Mode of inheritance	3909	LAMA3	OMIM:619784
HP:0000005	Mode of inheritance	3909	LAMA3	OMIM:619783
HP:0000005	Mode of inheritance	4649	MYO9A	OMIM:618198
HP:0000005	Mode of inheritance	23322	RPGRIP1L	OMIM:611561
HP:0000005	Mode of inheritance	23322	RPGRIP1L	OMIM:611560
HP:0000005	Mode of inheritance	23322	RPGRIP1L	OMIM:619113
HP:0000005	Mode of inheritance	3141	HLCS	OMIM:253270
HP:0000005	Mode of inheritance	25782	RAB3GAP2	OMIM:212720
HP:0000005	Mode of inheritance	25782	RAB3GAP2	OMIM:614225
HP:0000005	Mode of inheritance	9915	ARNT2	OMIM:615926
HP:0000005	Mode of inheritance	4868	NPHS1	OMIM:256300
HP:0000005	Mode of inheritance	7827	NPHS2	OMIM:600995
HP:0000005	Mode of inheritance	6499	SKIC2	OMIM:614602
HP:0000005	Mode of inheritance	686	BTD	OMIM:253260
HP:0000005	Mode of inheritance	256297	PTF1A	OMIM:615935
HP:0000005	Mode of inheritance	256297	PTF1A	OMIM:609069
HP:0000005	Mode of inheritance	7840	ALMS1	OMIM:203800
HP:0000005	Mode of inheritance	4591	TRIM37	OMIM:253250
HP:0000005	Mode of inheritance	124512	METTL23	OMIM:615942
HP:0000005	Mode of inheritance	26005	C2CD3	OMIM:615948
HP:0000005	Mode of inheritance	65250	CPLANE1	OMIM:614615
HP:0000005	Mode of inheritance	65250	CPLANE1	OMIM:277170
HP:0000005	Mode of inheritance	338328	GPIHBP1	OMIM:615947
HP:0000005	Mode of inheritance	1174	AP1S1	OMIM:609313
HP:0000005	Mode of inheritance	121512	FGD4	OMIM:609311
HP:0000005	Mode of inheritance	7915	ALDH5A1	OMIM:271980
HP:0000005	Mode of inheritance	2743	GLRB	OMIM:614619
HP:0000005	Mode of inheritance	129563	DIS3L2	OMIM:267000
HP:0000005	Mode of inheritance	10585	POMT1	OMIM:609308
HP:0000005	Mode of inheritance	10585	POMT1	OMIM:613155
HP:0000005	Mode of inheritance	10585	POMT1	OMIM:236670
HP:0000005	Mode of inheritance	443	ASPA	OMIM:271900
HP:0000005	Mode of inheritance	259236	TMIE	OMIM:600971
HP:0000005	Mode of inheritance	1836	SLC26A2	OMIM:600972
HP:0000005	Mode of inheritance	1836	SLC26A2	OMIM:256050
HP:0000005	Mode of inheritance	1836	SLC26A2	OMIM:222600
HP:0000005	Mode of inheritance	1836	SLC26A2	OMIM:226900
HP:0000005	Mode of inheritance	1545	CYP1B1	OMIM:600975
HP:0000005	Mode of inheritance	1545	CYP1B1	OMIM:231300
HP:0000005	Mode of inheritance	1545	CYP1B1	OMIM:617315
HP:0000005	Mode of inheritance	222662	LHFPL5	OMIM:610265
HP:0000005	Mode of inheritance	10290	SPEG	OMIM:615959
HP:0000005	Mode of inheritance	79751	SLC25A22	OMIM:609304
HP:0000005	Mode of inheritance	9719	ADAMTSL2	OMIM:231050
HP:0000005	Mode of inheritance	9321	TRIP11	OMIM:184260
HP:0000005	Mode of inheritance	9321	TRIP11	OMIM:200600
HP:0000005	Mode of inheritance	284217	LAMA1	OMIM:615960
HP:0000005	Mode of inheritance	5591	PRKDC	OMIM:615966
HP:0000005	Mode of inheritance	286262	TPRN	OMIM:613307
HP:0000005	Mode of inheritance	64902	AGXT2	OMIM:210100
HP:0000005	Mode of inheritance	5122	PCSK1	OMIM:600955
HP:0000005	Mode of inheritance	64218	SEMA4A	OMIM:610282
HP:0000005	Mode of inheritance	64218	SEMA4A	OMIM:610283
HP:0000005	Mode of inheritance	282809	POC1B	OMIM:615973
HP:0000005	Mode of inheritance	729920	CRPPA	OMIM:614643
HP:0000005	Mode of inheritance	729920	CRPPA	OMIM:616052
HP:0000005	Mode of inheritance	2059	EPS8	OMIM:615974
HP:0000005	Mode of inheritance	57654	UVSSA	OMIM:614640
HP:0000005	Mode of inheritance	57817	HAMP	OMIM:613313
HP:0000005	Mode of inheritance	1535	CYBA	OMIM:233690
HP:0000005	Mode of inheritance	79791	FBXO31	OMIM:615979
HP:0000005	Mode of inheritance	157570	ESCO2	OMIM:268300
HP:0000005	Mode of inheritance	157570	ESCO2	OMIM:216100
HP:0000005	Mode of inheritance	23636	NUP62	OMIM:271930
HP:0000005	Mode of inheritance	9775	EIF4A3	OMIM:268305
HP:0000005	Mode of inheritance	3991	LIPE	OMIM:615980
HP:0000005	Mode of inheritance	51004	COQ6	OMIM:614650
HP:0000005	Mode of inheritance	93183	PIGM	OMIM:610293
HP:0000005	Mode of inheritance	55212	BBS7	OMIM:615984
HP:0000005	Mode of inheritance	667	DST	OMIM:614653
HP:0000005	Mode of inheritance	667	DST	OMIM:615425
HP:0000005	Mode of inheritance	57017	COQ9	OMIM:614654
HP:0000005	Mode of inheritance	51025	PAM16	OMIM:613320
HP:0000005	Mode of inheritance	585	BBS4	OMIM:615982
HP:0000005	Mode of inheritance	23590	PDSS1	OMIM:614651
HP:0000005	Mode of inheritance	129880	BBS5	OMIM:615983
HP:0000005	Mode of inheritance	57107	PDSS2	OMIM:614652
HP:0000005	Mode of inheritance	22954	TRIM32	OMIM:615988
HP:0000005	Mode of inheritance	22954	TRIM32	OMIM:254110
HP:0000005	Mode of inheritance	166379	BBS12	OMIM:615989
HP:0000005	Mode of inheritance	27241	BBS9	OMIM:615986
HP:0000005	Mode of inheritance	1146	CHRNG	OMIM:253290
HP:0000005	Mode of inheritance	1146	CHRNG	OMIM:265000
HP:0000005	Mode of inheritance	284119	CAVIN1	OMIM:613327
HP:0000005	Mode of inheritance	79738	BBS10	OMIM:615987
HP:0000005	Mode of inheritance	90417	KNSTRN	OMIM:613328
HP:0000005	Mode of inheritance	60495	HPSE2	OMIM:236730
HP:0000005	Mode of inheritance	1738	DLD	OMIM:246900
HP:0000005	Mode of inheritance	201294	UNC13D	OMIM:608898
HP:0000005	Mode of inheritance	51057	WDPCP	OMIM:615992
HP:0000005	Mode of inheritance	51057	WDPCP	OMIM:217085
HP:0000005	Mode of inheritance	579	NKX3-2	OMIM:613330
HP:0000005	Mode of inheritance	54903	MKS1	OMIM:615990
HP:0000005	Mode of inheritance	54903	MKS1	OMIM:617121
HP:0000005	Mode of inheritance	54903	MKS1	OMIM:249000
HP:0000005	Mode of inheritance	5193	PEX12	OMIM:266510
HP:0000005	Mode of inheritance	5193	PEX12	OMIM:614859
HP:0000005	Mode of inheritance	92482	BBIP1	OMIM:615995
HP:0000005	Mode of inheritance	11020	IFT27	OMIM:615996
HP:0000005	Mode of inheritance	10806	SDCCAG8	OMIM:615993
HP:0000005	Mode of inheritance	10806	SDCCAG8	OMIM:613615
HP:0000005	Mode of inheritance	54585	LZTFL1	OMIM:615994
HP:0000005	Mode of inheritance	411	ARSB	OMIM:253200
HP:0000005	Mode of inheritance	91179	SCARF2	OMIM:600920
HP:0000005	Mode of inheritance	5264	PHYH	OMIM:266500
HP:0000005	Mode of inheritance	57798	GATAD1	OMIM:614672
HP:0000005	Mode of inheritance	10525	HYOU1	OMIM:233600
HP:0000005	Mode of inheritance	9662	CEP135	OMIM:614673
HP:0000005	Mode of inheritance	388389	DNAAF19	OMIM:614679
HP:0000005	Mode of inheritance	56997	COQ8A	OMIM:612016
HP:0000005	Mode of inheritance	91869	RFT1	OMIM:612015
HP:0000005	Mode of inheritance	51010	EXOSC3	OMIM:614678
HP:0000005	Mode of inheritance	11093	ADAMTS13	OMIM:274150
HP:0000005	Mode of inheritance	6301	SARS1	OMIM:617709
HP:0000005	Mode of inheritance	56155	TEX14	OMIM:617707
HP:0000005	Mode of inheritance	26224	FBXL3	OMIM:606220
HP:0000005	Mode of inheritance	10908	PNPLA6	OMIM:612020
HP:0000005	Mode of inheritance	10908	PNPLA6	OMIM:245800
HP:0000005	Mode of inheritance	10908	PNPLA6	OMIM:215470
HP:0000005	Mode of inheritance	10908	PNPLA6	OMIM:275400
HP:0000005	Mode of inheritance	10352	WARS2	OMIM:617710
HP:0000005	Mode of inheritance	10352	WARS2	OMIM:619738
HP:0000005	Mode of inheritance	708	C1QBP	OMIM:617713
HP:0000005	Mode of inheritance	124583	CANT1	OMIM:617719
HP:0000005	Mode of inheritance	124583	CANT1	OMIM:251450
HP:0000005	Mode of inheritance	10095	ARPC1B	OMIM:617718
HP:0000005	Mode of inheritance	2232	FDXR	OMIM:617717
HP:0000005	Mode of inheritance	2178	FANCE	OMIM:600901
HP:0000005	Mode of inheritance	3758	KCNJ1	OMIM:241200
HP:0000005	Mode of inheritance	55750	AGK	OMIM:614691
HP:0000005	Mode of inheritance	55750	AGK	OMIM:212350
HP:0000005	Mode of inheritance	55644	OSGEP	OMIM:617729
HP:0000005	Mode of inheritance	112858	TP53RK	OMIM:617730
HP:0000005	Mode of inheritance	163786	SASS6	OMIM:616402
HP:0000005	Mode of inheritance	2548	GAA	OMIM:232300
HP:0000005	Mode of inheritance	51002	TPRKB	OMIM:617731
HP:0000005	Mode of inheritance	83737	ITCH	OMIM:613385
HP:0000005	Mode of inheritance	197135	PATL2	OMIM:617743
HP:0000005	Mode of inheritance	4913	NTHL1	OMIM:616415
HP:0000005	Mode of inheritance	9215	LARGE1	OMIM:608840
HP:0000005	Mode of inheritance	9215	LARGE1	OMIM:613154
HP:0000005	Mode of inheritance	9215	LARGE1	OMIM:236670
HP:0000005	Mode of inheritance	29929	ALG6	OMIM:603147
HP:0000005	Mode of inheritance	5889	RAD51C	OMIM:613390
HP:0000005	Mode of inheritance	29920	PYCR2	OMIM:616420
HP:0000005	Mode of inheritance	1663	DDX11	OMIM:613398
HP:0000005	Mode of inheritance	8575	PRKRA	OMIM:612067
HP:0000005	Mode of inheritance	2990	GUSB	OMIM:253220
HP:0000005	Mode of inheritance	9469	CHST3	OMIM:245600
HP:0000005	Mode of inheritance	9469	CHST3	OMIM:143095
HP:0000005	Mode of inheritance	26229	B3GAT3	OMIM:245600
HP:0000005	Mode of inheritance	23404	EXOSC2	OMIM:617763
HP:0000005	Mode of inheritance	55331	ACER3	OMIM:617762
HP:0000005	Mode of inheritance	8803	SUCLA2	OMIM:612073
HP:0000005	Mode of inheritance	153241	CEP120	OMIM:617761
HP:0000005	Mode of inheritance	153241	CEP120	OMIM:616300
HP:0000005	Mode of inheritance	92935	MARS2	OMIM:616430
HP:0000005	Mode of inheritance	92935	MARS2	OMIM:611390
HP:0000005	Mode of inheritance	51776	MAP3K20	OMIM:617760
HP:0000005	Mode of inheritance	51776	MAP3K20	OMIM:616890
HP:0000005	Mode of inheritance	10464	PIBF1	OMIM:617767
HP:0000005	Mode of inheritance	29089	UBE2T	OMIM:616435
HP:0000005	Mode of inheritance	7372	UMPS	OMIM:258900
HP:0000005	Mode of inheritance	1794	DOCK2	OMIM:616433
HP:0000005	Mode of inheritance	55131	RBM28	OMIM:612079
HP:0000005	Mode of inheritance	261734	NPHP4	OMIM:606996
HP:0000005	Mode of inheritance	261734	NPHP4	OMIM:606966
HP:0000005	Mode of inheritance	6555	SLC10A2	OMIM:613291
HP:0000005	Mode of inheritance	3071	NCKAP1L	OMIM:618982
HP:0000005	Mode of inheritance	3998	LMAN1	OMIM:227300
HP:0000005	Mode of inheritance	4593	MUSK	OMIM:616325
HP:0000005	Mode of inheritance	4593	MUSK	OMIM:208150
HP:0000005	Mode of inheritance	4919	ROR1	OMIM:617654
HP:0000005	Mode of inheritance	8291	DYSF	OMIM:253601
HP:0000005	Mode of inheritance	8291	DYSF	OMIM:606768
HP:0000005	Mode of inheritance	8291	DYSF	OMIM:254130
HP:0000005	Mode of inheritance	4552	MTRR	OMIM:236270
HP:0000005	Mode of inheritance	4552	MTRR	OMIM:601634
HP:0000005	Mode of inheritance	23498	HAAO	OMIM:617660
HP:0000005	Mode of inheritance	4867	NPHP1	OMIM:266900
HP:0000005	Mode of inheritance	4867	NPHP1	OMIM:609583
HP:0000005	Mode of inheritance	4867	NPHP1	OMIM:256100
HP:0000005	Mode of inheritance	65993	MRPS34	OMIM:617664
HP:0000005	Mode of inheritance	64412	GZF1	OMIM:617662
HP:0000005	Mode of inheritance	387787	LIPT2	OMIM:617668
HP:0000005	Mode of inheritance	6487	ST3GAL3	OMIM:615006
HP:0000005	Mode of inheritance	6487	ST3GAL3	OMIM:611090
HP:0000005	Mode of inheritance	23426	GRIP1	OMIM:617667
HP:0000005	Mode of inheritance	27229	TUBGCP4	OMIM:616335
HP:0000005	Mode of inheritance	341640	FREM2	OMIM:617666
HP:0000005	Mode of inheritance	341640	FREM2	OMIM:123570
HP:0000005	Mode of inheritance	10686	CLDN16	OMIM:248250
HP:0000005	Mode of inheritance	51112	TRAPPC12	OMIM:617669
HP:0000005	Mode of inheritance	8526	DGKE	OMIM:615008
HP:0000005	Mode of inheritance	3508	IGHMBP2	OMIM:604320
HP:0000005	Mode of inheritance	3508	IGHMBP2	OMIM:616155
HP:0000005	Mode of inheritance	57082	KNL1	OMIM:604321
HP:0000005	Mode of inheritance	55650	PIGV	OMIM:239300
HP:0000005	Mode of inheritance	284403	WDR62	OMIM:604317
HP:0000005	Mode of inheritance	9071	CLDN10	OMIM:617671
HP:0000005	Mode of inheritance	1020	CDK5	OMIM:616342
HP:0000005	Mode of inheritance	54757	FAM20A	OMIM:204690
HP:0000005	Mode of inheritance	85007	PHYKPL	OMIM:615011
HP:0000005	Mode of inheritance	3665	IRF7	OMIM:616345
HP:0000005	Mode of inheritance	26154	ABCA12	OMIM:601277
HP:0000005	Mode of inheritance	26154	ABCA12	OMIM:242500
HP:0000005	Mode of inheritance	204219	CERS3	OMIM:615023
HP:0000005	Mode of inheritance	57231	SNX14	OMIM:616354
HP:0000005	Mode of inheritance	285848	PNPLA1	OMIM:615024
HP:0000005	Mode of inheritance	23086	EXPH5	OMIM:615028
HP:0000005	Mode of inheritance	950	SCARB2	OMIM:254900
HP:0000005	Mode of inheritance	81794	ADAMTS10	OMIM:277600
HP:0000005	Mode of inheritance	113612	CYP2U1	OMIM:615030
HP:0000005	Mode of inheritance	9895	TECPR2	OMIM:615031
HP:0000005	Mode of inheritance	91574	MTRFR	OMIM:615035
HP:0000005	Mode of inheritance	91574	MTRFR	OMIM:613559
HP:0000005	Mode of inheritance	55773	TBC1D23	OMIM:617695
HP:0000005	Mode of inheritance	8558	CDK10	OMIM:617694
HP:0000005	Mode of inheritance	23259	DDHD2	OMIM:615033
HP:0000005	Mode of inheritance	92609	TIMM50	OMIM:617698
HP:0000005	Mode of inheritance	5836	PYGL	OMIM:232700
HP:0000005	Mode of inheritance	7173	TPO	OMIM:274500
HP:0000005	Mode of inheritance	124590	USH1G	OMIM:606943
HP:0000005	Mode of inheritance	10329	RXYLT1	OMIM:615041
HP:0000005	Mode of inheritance	8818	DPM2	OMIM:615042
HP:0000005	Mode of inheritance	122961	ISCA2	OMIM:616370
HP:0000005	Mode of inheritance	3579	CXCR2	OMIM:619407
HP:0000005	Mode of inheritance	10531	PITRM1	OMIM:619405
HP:0000005	Mode of inheritance	3773	KCNJ16	OMIM:619406
HP:0000005	Mode of inheritance	4351	MPI	OMIM:602579
HP:0000005	Mode of inheritance	345193	LRIT3	OMIM:615058
HP:0000005	Mode of inheritance	10229	COQ7	OMIM:620402
HP:0000005	Mode of inheritance	10229	COQ7	OMIM:616733
HP:0000005	Mode of inheritance	286204	CRB2	OMIM:219730
HP:0000005	Mode of inheritance	286204	CRB2	OMIM:616220
HP:0000005	Mode of inheritance	1967	EIF2B1	OMIM:603896
HP:0000005	Mode of inheritance	2071	ERCC3	OMIM:616390
HP:0000005	Mode of inheritance	2071	ERCC3	OMIM:610651
HP:0000005	Mode of inheritance	85300	ATCAY	OMIM:601238
HP:0000005	Mode of inheritance	404672	GTF2H5	OMIM:616395
HP:0000005	Mode of inheritance	26160	IFT172	OMIM:616394
HP:0000005	Mode of inheritance	26160	IFT172	OMIM:619471
HP:0000005	Mode of inheritance	26160	IFT172	OMIM:615630
HP:0000005	Mode of inheritance	10533	ATG7	OMIM:619422
HP:0000005	Mode of inheritance	205327	C2orf69	OMIM:619423
HP:0000005	Mode of inheritance	93233	ODAD1	OMIM:615067
HP:0000005	Mode of inheritance	9427	ECEL1	OMIM:615065
HP:0000005	Mode of inheritance	26074	CFAP61	OMIM:620409
HP:0000005	Mode of inheritance	55151	TMEM38B	OMIM:615066
HP:0000005	Mode of inheritance	344	APOC2	OMIM:207750
HP:0000005	Mode of inheritance	2583	B4GALNT1	OMIM:609195
HP:0000005	Mode of inheritance	7286	TUFT1	OMIM:620415
HP:0000005	Mode of inheritance	389827	MYMK	OMIM:254940
HP:0000005	Mode of inheritance	51574	LARP7	OMIM:615071
HP:0000005	Mode of inheritance	65992	DDRGK1	OMIM:602557
HP:0000005	Mode of inheritance	10112	KIF20A	OMIM:619433
HP:0000005	Mode of inheritance	84894	LINGO1	OMIM:618103
HP:0000005	Mode of inheritance	10765	KDM5B	OMIM:618109
HP:0000005	Mode of inheritance	53371	NUP54	OMIM:620427
HP:0000005	Mode of inheritance	54973	INTS11	OMIM:620428
HP:0000005	Mode of inheritance	27148	STK36	OMIM:619436
HP:0000005	Mode of inheritance	2653	GCSH	OMIM:620423
HP:0000005	Mode of inheritance	9526	MPDU1	OMIM:609180
HP:0000005	Mode of inheritance	1120	CHKB	OMIM:602541
HP:0000005	Mode of inheritance	29887	SNX10	OMIM:615085
HP:0000005	Mode of inheritance	83449	PMFBP1	OMIM:618112
HP:0000005	Mode of inheritance	6809	STX3	OMIM:619445
HP:0000005	Mode of inheritance	6809	STX3	OMIM:619446
HP:0000005	Mode of inheritance	92667	MGME1	OMIM:615084
HP:0000005	Mode of inheritance	8492	PRSS12	OMIM:249500
HP:0000005	Mode of inheritance	122402	TDRD9	OMIM:618110
HP:0000005	Mode of inheritance	54014	BRWD1	OMIM:620438
HP:0000005	Mode of inheritance	114803	MYSM1	OMIM:618116
HP:0000005	Mode of inheritance	2250	FGF5	OMIM:190330
HP:0000005	Mode of inheritance	868	CBLB	OMIM:620430
HP:0000005	Mode of inheritance	23218	NBEAL2	OMIM:139090
HP:0000005	Mode of inheritance	56975	FAM20C	OMIM:259775
HP:0000005	Mode of inheritance	55249	YY1AP1	OMIM:602531
HP:0000005	Mode of inheritance	2735	GLI1	OMIM:618123
HP:0000005	Mode of inheritance	2735	GLI1	OMIM:174400
HP:0000005	Mode of inheritance	8888	MCM3AP	OMIM:618124
HP:0000005	Mode of inheritance	63925	ZNF335	OMIM:615095
HP:0000005	Mode of inheritance	513	ATP5F1D	OMIM:618120
HP:0000005	Mode of inheritance	4052	LTBP1	OMIM:619451
HP:0000005	Mode of inheritance	81788	NUAK2	OMIM:619452
HP:0000005	Mode of inheritance	27341	RRP7A	OMIM:619453
HP:0000005	Mode of inheritance	9020	MAP3K14	OMIM:620449
HP:0000005	Mode of inheritance	9675	TTI1	OMIM:620445
HP:0000005	Mode of inheritance	7809	BSND	OMIM:602522
HP:0000005	Mode of inheritance	3155	HMGCL	OMIM:246450
HP:0000005	Mode of inheritance	84892	POMGNT2	OMIM:618135
HP:0000005	Mode of inheritance	84892	POMGNT2	OMIM:614830
HP:0000005	Mode of inheritance	7161	TP73	OMIM:619466
HP:0000005	Mode of inheritance	254428	SLC41A1	OMIM:619468
HP:0000005	Mode of inheritance	146206	CARMIL2	OMIM:618131
HP:0000005	Mode of inheritance	55340	GIMAP5	OMIM:619463
HP:0000005	Mode of inheritance	3908	LAMA2	OMIM:618138
HP:0000005	Mode of inheritance	3908	LAMA2	OMIM:607855
HP:0000005	Mode of inheritance	9256	TSPOAP1	OMIM:620456
HP:0000005	Mode of inheritance	9256	TSPOAP1	OMIM:620453
HP:0000005	Mode of inheritance	6811	STX5	OMIM:620454
HP:0000005	Mode of inheritance	1244	ABCC2	OMIM:237500
HP:0000005	Mode of inheritance	84065	TMEM222	OMIM:619470
HP:0000005	Mode of inheritance	10205	MPZL2	OMIM:618145
HP:0000005	Mode of inheritance	9851	KIAA0753	OMIM:619476
HP:0000005	Mode of inheritance	9851	KIAA0753	OMIM:619479
HP:0000005	Mode of inheritance	9851	KIAA0753	OMIM:617127
HP:0000005	Mode of inheritance	8991	SELENBP1	OMIM:618148
HP:0000005	Mode of inheritance	10526	IPO8	OMIM:619472
HP:0000005	Mode of inheritance	348180	CTU2	OMIM:618142
HP:0000005	Mode of inheritance	94005	PIGS	OMIM:618143
HP:0000005	Mode of inheritance	55651	NHP2	OMIM:224230
HP:0000005	Mode of inheritance	55651	NHP2	OMIM:613987
HP:0000005	Mode of inheritance	22901	ARSG	OMIM:618144
HP:0000005	Mode of inheritance	4762	NEUROG1	OMIM:620469
HP:0000005	Mode of inheritance	3257	HPS1	OMIM:203300
HP:0000005	Mode of inheritance	83706	FERMT3	OMIM:612840
HP:0000005	Mode of inheritance	9060	PAPSS2	OMIM:612847
HP:0000005	Mode of inheritance	6050	RNH1	OMIM:620461
HP:0000005	Mode of inheritance	10486	CAP2	OMIM:620462
HP:0000005	Mode of inheritance	123264	SLC51B	OMIM:619481
HP:0000005	Mode of inheritance	283446	MYO1H	OMIM:619482
HP:0000005	Mode of inheritance	3709	ITPR2	OMIM:106190
HP:0000005	Mode of inheritance	3636	INPPL1	OMIM:258480
HP:0000005	Mode of inheritance	2222	FDFT1	OMIM:618156
HP:0000005	Mode of inheritance	100147744	RNU7-1	OMIM:619487
HP:0000005	Mode of inheritance	374879	ZNF699	OMIM:619488
HP:0000005	Mode of inheritance	2692	GHRHR	OMIM:618157
HP:0000005	Mode of inheritance	60676	PAPPA2	OMIM:619489
HP:0000005	Mode of inheritance	144406	CFAP251	OMIM:618152
HP:0000005	Mode of inheritance	10660	LBX1	OMIM:619483
HP:0000005	Mode of inheritance	401024	FSIP2	OMIM:618153
HP:0000005	Mode of inheritance	200931	SLC51A	OMIM:619484
HP:0000005	Mode of inheritance	9508	ADAMTS3	OMIM:618154
HP:0000005	Mode of inheritance	4617	MYF5	OMIM:618155
HP:0000005	Mode of inheritance	134353	LSM11	OMIM:619486
HP:0000005	Mode of inheritance	7297	TYK2	OMIM:611521
HP:0000005	Mode of inheritance	54977	SLC25A38	OMIM:205950
HP:0000005	Mode of inheritance	57038	RARS2	OMIM:611523
HP:0000005	Mode of inheritance	50485	SMARCAL1	OMIM:242900
HP:0000005	Mode of inheritance	4645	MYO5B	OMIM:251850
HP:0000005	Mode of inheritance	4645	MYO5B	OMIM:619868
HP:0000005	Mode of inheritance	55599	RNPC3	OMIM:618160
HP:0000005	Mode of inheritance	3766	KCNJ10	OMIM:600791
HP:0000005	Mode of inheritance	3766	KCNJ10	OMIM:612780
HP:0000005	Mode of inheritance	3766	KCNJ10	OMIM:274600
HP:0000005	Mode of inheritance	2299	FOXI1	OMIM:600791
HP:0000005	Mode of inheritance	2299	FOXI1	OMIM:274600
HP:0000005	Mode of inheritance	5172	SLC26A4	OMIM:600791
HP:0000005	Mode of inheritance	5172	SLC26A4	OMIM:274600
HP:0000005	Mode of inheritance	23387	SIK3	OMIM:618162
HP:0000005	Mode of inheritance	80267	EDEM3	OMIM:619493
HP:0000005	Mode of inheritance	50515	CHST11	OMIM:618167
HP:0000005	Mode of inheritance	7482	WNT2B	OMIM:618168
HP:0000005	Mode of inheritance	4256	MGP	OMIM:245150
HP:0000005	Mode of inheritance	875	CBS	OMIM:236200
HP:0000005	Mode of inheritance	283989	TSEN54	OMIM:610204
HP:0000005	Mode of inheritance	283989	TSEN54	OMIM:277470
HP:0000005	Mode of inheritance	283989	TSEN54	OMIM:225753
HP:0000005	Mode of inheritance	5524	PTPA	OMIM:620482
HP:0000005	Mode of inheritance	81833	SPACA1	OMIM:620490
HP:0000005	Mode of inheritance	54936	ADPRS	OMIM:618170
HP:0000005	Mode of inheritance	23279	NUP160	OMIM:618178
HP:0000005	Mode of inheritance	79023	NUP37	OMIM:618179
HP:0000005	Mode of inheritance	118429	ANTXR2	OMIM:228600
HP:0000005	Mode of inheritance	26119	LDLRAP1	OMIM:603813
HP:0000005	Mode of inheritance	1496	CTNNA2	OMIM:618174
HP:0000005	Mode of inheritance	79902	NUP85	OMIM:618176
HP:0000005	Mode of inheritance	51473	DCDC2	OMIM:610212
HP:0000005	Mode of inheritance	51473	DCDC2	OMIM:616217
HP:0000005	Mode of inheritance	51473	DCDC2	OMIM:617394
HP:0000005	Mode of inheritance	6559	SLC12A3	OMIM:263800
HP:0000005	Mode of inheritance	284111	SLC13A5	OMIM:615905
HP:0000005	Mode of inheritance	10881	ACTL7A	OMIM:620499
HP:0000005	Mode of inheritance	2760	GM2A	OMIM:272750
HP:0000005	Mode of inheritance	85016	CFAP300	OMIM:618063
HP:0000005	Mode of inheritance	8323	FZD6	OMIM:161050
HP:0000005	Mode of inheritance	5393	EXOSC9	OMIM:618065
HP:0000005	Mode of inheritance	27178	IL37	OMIM:619398
HP:0000005	Mode of inheritance	10312	TCIRG1	OMIM:259700
HP:0000005	Mode of inheritance	730	C7	OMIM:610102
HP:0000005	Mode of inheritance	79083	MLPH	OMIM:609227
HP:0000005	Mode of inheritance	5352	PLOD2	OMIM:609220
HP:0000005	Mode of inheritance	4342	MOS	OMIM:620383
HP:0000005	Mode of inheritance	146167	SLC38A8	OMIM:609218
HP:0000005	Mode of inheritance	57222	ERGIC1	OMIM:208100
HP:0000005	Mode of inheritance	51506	UFC1	OMIM:618076
HP:0000005	Mode of inheritance	8754	ADAM9	OMIM:612775
HP:0000005	Mode of inheritance	80055	PGAP1	OMIM:615802
HP:0000005	Mode of inheritance	10978	CLP1	OMIM:615803
HP:0000005	Mode of inheritance	275	AMT	OMIM:620398
HP:0000005	Mode of inheritance	271	AMPD2	OMIM:615809
HP:0000005	Mode of inheritance	271	AMPD2	OMIM:615686
HP:0000005	Mode of inheritance	7175	TPR	OMIM:620393
HP:0000005	Mode of inheritance	525	ATP6V1B1	OMIM:267300
HP:0000005	Mode of inheritance	388698	FLG2	OMIM:618084
HP:0000005	Mode of inheritance	57697	FANCM	OMIM:618086
HP:0000005	Mode of inheritance	57697	FANCM	OMIM:618096
HP:0000005	Mode of inheritance	220074	LRTOMT	OMIM:611451
HP:0000005	Mode of inheritance	3988	LIPA	OMIM:278000
HP:0000005	Mode of inheritance	3988	LIPA	OMIM:620151
HP:0000005	Mode of inheritance	26504	CNNM4	OMIM:217080
HP:0000005	Mode of inheritance	5238	PGM3	OMIM:615816
HP:0000005	Mode of inheritance	1509	CTSD	OMIM:610127
HP:0000005	Mode of inheritance	23325	WASHC4	OMIM:615817
HP:0000005	Mode of inheritance	80856	LNPK	OMIM:618090
HP:0000005	Mode of inheritance	6691	SPINK2	OMIM:618091
HP:0000005	Mode of inheritance	7156	TOP3A	OMIM:618097
HP:0000005	Mode of inheritance	7156	TOP3A	OMIM:618098
HP:0000005	Mode of inheritance	84300	UQCC2	OMIM:615824
HP:0000005	Mode of inheritance	113235	SLC46A1	OMIM:229050
HP:0000005	Mode of inheritance	79753	SNIP1	OMIM:614501
HP:0000005	Mode of inheritance	25977	NECAP1	OMIM:615833
HP:0000005	Mode of inheritance	90624	LYRM7	OMIM:615838
HP:0000005	Mode of inheritance	1650	DDOST	OMIM:614507
HP:0000005	Mode of inheritance	643226	GRXCR2	OMIM:615837
HP:0000005	Mode of inheritance	80704	SLC19A3	OMIM:607483
HP:0000005	Mode of inheritance	4036	LRP2	OMIM:222448
HP:0000005	Mode of inheritance	6875	TAF4B	OMIM:615841
HP:0000005	Mode of inheritance	84225	ZMYND15	OMIM:615842
HP:0000005	Mode of inheritance	153562	MARVELD2	OMIM:610153
HP:0000005	Mode of inheritance	107	ADCY1	OMIM:610154
HP:0000005	Mode of inheritance	2488	FSHB	OMIM:229070
HP:0000005	Mode of inheritance	137814	NKX2-6	OMIM:217095
HP:0000005	Mode of inheritance	760	CA2	OMIM:259730
HP:0000005	Mode of inheritance	8813	DPM1	OMIM:608799
HP:0000005	Mode of inheritance	9652	SKIC3	OMIM:222470
HP:0000005	Mode of inheritance	919	CD247	OMIM:610163
HP:0000005	Mode of inheritance	55275	VPS53	OMIM:615851
HP:0000005	Mode of inheritance	84662	GLIS2	OMIM:611498
HP:0000005	Mode of inheritance	85440	DOCK7	OMIM:615859
HP:0000005	Mode of inheritance	28962	OSTM1	OMIM:259720
HP:0000005	Mode of inheritance	23093	TTLL5	OMIM:615860
HP:0000005	Mode of inheritance	8694	DGAT1	OMIM:615863
HP:0000005	Mode of inheritance	2013	EMP2	OMIM:615861
HP:0000005	Mode of inheritance	51134	CEP83	OMIM:615862
HP:0000005	Mode of inheritance	3679	ITGA7	OMIM:613204
HP:0000005	Mode of inheritance	54704	PDP1	OMIM:608782
HP:0000005	Mode of inheritance	8600	TNFSF11	OMIM:259710
HP:0000005	Mode of inheritance	91949	COG7	OMIM:608779
HP:0000005	Mode of inheritance	79621	RNASEH2B	OMIM:610181
HP:0000005	Mode of inheritance	256764	WDR72	OMIM:613211
HP:0000005	Mode of inheritance	124997	WDR81	OMIM:610185
HP:0000005	Mode of inheritance	124997	WDR81	OMIM:617967
HP:0000005	Mode of inheritance	5648	MASP1	OMIM:257920
HP:0000005	Mode of inheritance	10309	CCNO	OMIM:615872
HP:0000005	Mode of inheritance	9414	TJP2	OMIM:615878
HP:0000005	Mode of inheritance	9414	TJP2	OMIM:607748
HP:0000005	Mode of inheritance	4308	TRPM1	OMIM:613216
HP:0000005	Mode of inheritance	79796	ALG9	OMIM:608776
HP:0000005	Mode of inheritance	79796	ALG9	OMIM:263210
HP:0000005	Mode of inheritance	3718	JAK3	OMIM:600802
HP:0000005	Mode of inheritance	7306	TYRP1	OMIM:203290
HP:0000005	Mode of inheritance	6652	SORD	OMIM:618912
HP:0000005	Mode of inheritance	131118	DNAJC19	OMIM:610198
HP:0000005	Mode of inheritance	83479	DDX59	OMIM:174300
HP:0000005	Mode of inheritance	169792	GLIS3	OMIM:610199
HP:0000005	Mode of inheritance	57505	AARS2	OMIM:615889
HP:0000005	Mode of inheritance	57505	AARS2	OMIM:614096
HP:0000005	Mode of inheritance	50	ACO2	OMIM:614559
HP:0000005	Mode of inheritance	50	ACO2	OMIM:616289
HP:0000005	Mode of inheritance	55152	DALRD3	OMIM:618910
HP:0000005	Mode of inheritance	123041	SLC24A4	OMIM:615887
HP:0000005	Mode of inheritance	55033	FKBP14	OMIM:614557
HP:0000005	Mode of inheritance	767	CA8	OMIM:613227
HP:0000005	Mode of inheritance	10235	RASGRP2	OMIM:615888
HP:0000005	Mode of inheritance	727676	SNORD118	OMIM:614561
HP:0000005	Mode of inheritance	440435	GPR179	OMIM:614565
HP:0000005	Mode of inheritance	1503	CTPS1	OMIM:615897
HP:0000005	Mode of inheritance	2165	F13B	OMIM:613235
HP:0000005	Mode of inheritance	10616	RBCK1	OMIM:615895
HP:0000005	Mode of inheritance	5837	PYGM	OMIM:232600
HP:0000005	Mode of inheritance	2917	GRM7	OMIM:618922
HP:0000005	Mode of inheritance	4361	MRE11	OMIM:604391
HP:0000005	Mode of inheritance	55764	IFT122	OMIM:218330
HP:0000005	Mode of inheritance	717	C2	OMIM:217000
HP:0000005	Mode of inheritance	51185	CRBN	OMIM:607417
HP:0000005	Mode of inheritance	3479	IGF1	OMIM:608747
HP:0000005	Mode of inheritance	57511	COG6	OMIM:614576
HP:0000005	Mode of inheritance	57511	COG6	OMIM:615328
HP:0000005	Mode of inheritance	79415	CYBC1	OMIM:618935
HP:0000005	Mode of inheritance	149461	CLDN19	OMIM:248190
HP:0000005	Mode of inheritance	5981	RFC1	OMIM:614575
HP:0000005	Mode of inheritance	29980	DONSON	OMIM:617604
HP:0000005	Mode of inheritance	29980	DONSON	OMIM:251230
HP:0000005	Mode of inheritance	9863	MAGI2	OMIM:617609
HP:0000005	Mode of inheritance	200879	LIPH	OMIM:604379
HP:0000005	Mode of inheritance	11222	MRPL3	OMIM:614582
HP:0000005	Mode of inheritance	81689	ISCA1	OMIM:617613
HP:0000005	Mode of inheritance	2517	FUCA1	OMIM:230000
HP:0000005	Mode of inheritance	199221	DZIP1L	OMIM:617610
HP:0000005	Mode of inheritance	55329	MNS1	OMIM:618948
HP:0000005	Mode of inheritance	3570	IL6R	OMIM:618944
HP:0000005	Mode of inheritance	1890	TYMP	OMIM:603041
HP:0000005	Mode of inheritance	26503	SLC17A5	OMIM:604369
HP:0000005	Mode of inheritance	26503	SLC17A5	OMIM:269920
HP:0000005	Mode of inheritance	55617	TASP1	OMIM:618950
HP:0000005	Mode of inheritance	6182	MRPL12	OMIM:618951
HP:0000005	Mode of inheritance	28957	MRPS28	OMIM:618958
HP:0000005	Mode of inheritance	80210	ARMC9	OMIM:617622
HP:0000005	Mode of inheritance	4190	MDH1	OMIM:618959
HP:0000005	Mode of inheritance	51649	MRPS23	OMIM:618952
HP:0000005	Mode of inheritance	8292	COLQ	OMIM:603034
HP:0000005	Mode of inheritance	617	BCS1L	OMIM:124000
HP:0000005	Mode of inheritance	617	BCS1L	OMIM:262000
HP:0000005	Mode of inheritance	617	BCS1L	OMIM:603358
HP:0000005	Mode of inheritance	113246	C12orf57	OMIM:218340
HP:0000005	Mode of inheritance	80208	SPG11	OMIM:604360
HP:0000005	Mode of inheritance	80208	SPG11	OMIM:602099
HP:0000005	Mode of inheritance	80208	SPG11	OMIM:616668
HP:0000005	Mode of inheritance	259266	ASPM	OMIM:608716
HP:0000005	Mode of inheritance	5331	PLCB3	OMIM:618961
HP:0000005	Mode of inheritance	7515	XRCC1	OMIM:617633
HP:0000005	Mode of inheritance	23558	WBP2	OMIM:617639
HP:0000005	Mode of inheritance	57728	WDR19	OMIM:616307
HP:0000005	Mode of inheritance	57728	WDR19	OMIM:614378
HP:0000005	Mode of inheritance	57728	WDR19	OMIM:614376
HP:0000005	Mode of inheritance	57728	WDR19	OMIM:614377
HP:0000005	Mode of inheritance	57728	WDR19	OMIM:619867
HP:0000005	Mode of inheritance	64787	EPS8L2	OMIM:617637
HP:0000005	Mode of inheritance	9699	RIMS2	OMIM:618970
HP:0000005	Mode of inheritance	55532	SLC30A10	OMIM:613280
HP:0000005	Mode of inheritance	1468	SLC25A10	OMIM:618972
HP:0000005	Mode of inheritance	8884	SLC5A6	OMIM:618973
HP:0000005	Mode of inheritance	8884	SLC5A6	OMIM:619903
HP:0000005	Mode of inheritance	23288	IQCE	OMIM:617642
HP:0000005	Mode of inheritance	389207	GRXCR1	OMIM:613285
HP:0000005	Mode of inheritance	676	BRDT	OMIM:617644
HP:0000005	Mode of inheritance	4654	MYOD1	OMIM:618975
HP:0000005	Mode of inheritance	29899	GPSM2	OMIM:604213
HP:0000005	Mode of inheritance	104	ADARB1	OMIM:618862
HP:0000005	Mode of inheritance	91452	ACBD5	OMIM:618863
HP:0000005	Mode of inheritance	151648	SGO1	OMIM:616201
HP:0000005	Mode of inheritance	50651	SLC45A1	OMIM:617532
HP:0000005	Mode of inheritance	83932	SPRTN	OMIM:616200
HP:0000005	Mode of inheritance	8029	CUBN	OMIM:261100
HP:0000005	Mode of inheritance	8029	CUBN	OMIM:618884
HP:0000005	Mode of inheritance	23446	SLC44A1	OMIM:618868
HP:0000005	Mode of inheritance	2895	GRID2	OMIM:616204
HP:0000005	Mode of inheritance	8425	LTBP4	OMIM:613177
HP:0000005	Mode of inheritance	2972	BRF1	OMIM:616202
HP:0000005	Mode of inheritance	4860	PNP	OMIM:613179
HP:0000005	Mode of inheritance	64220	STRA6	OMIM:601186
HP:0000005	Mode of inheritance	10300	KATNB1	OMIM:616212
HP:0000005	Mode of inheritance	55790	CSGALNACT1	OMIM:618870
HP:0000005	Mode of inheritance	1723	DHODH	OMIM:263750
HP:0000005	Mode of inheritance	755	CFAP410	OMIM:617547
HP:0000005	Mode of inheritance	755	CFAP410	OMIM:602271
HP:0000005	Mode of inheritance	10026	PIGK	OMIM:618879
HP:0000005	Mode of inheritance	375387	NRROS	OMIM:618875
HP:0000005	Mode of inheritance	84570	COL25A1	OMIM:616219
HP:0000005	Mode of inheritance	1476	CSTB	OMIM:254800
HP:0000005	Mode of inheritance	64175	P3H1	OMIM:610915
HP:0000005	Mode of inheritance	220202	ATOH7	OMIM:221900
HP:0000005	Mode of inheritance	9289	ADGRG1	OMIM:606854
HP:0000005	Mode of inheritance	9289	ADGRG1	OMIM:615752
HP:0000005	Mode of inheritance	81693	AMN	OMIM:618882
HP:0000005	Mode of inheritance	83696	TRAPPC9	OMIM:613192
HP:0000005	Mode of inheritance	2590	GALNT2	OMIM:618885
HP:0000005	Mode of inheritance	123872	DNAAF1	OMIM:613193
HP:0000005	Mode of inheritance	170691	ADAMTS17	OMIM:613195
HP:0000005	Mode of inheritance	3694	ITGB6	OMIM:616221
HP:0000005	Mode of inheritance	130589	GALM	OMIM:618881
HP:0000005	Mode of inheritance	199857	ALG14	OMIM:616227
HP:0000005	Mode of inheritance	199857	ALG14	OMIM:619031
HP:0000005	Mode of inheritance	199857	ALG14	OMIM:619036
HP:0000005	Mode of inheritance	9581	PREPL	OMIM:616224
HP:0000005	Mode of inheritance	6773	STAT2	OMIM:618886
HP:0000005	Mode of inheritance	6773	STAT2	OMIM:616636
HP:0000005	Mode of inheritance	90993	CREB3L1	OMIM:616229
HP:0000005	Mode of inheritance	23761	PISD	OMIM:618889
HP:0000005	Mode of inheritance	85365	ALG2	OMIM:616228
HP:0000005	Mode of inheritance	85365	ALG2	OMIM:607906
HP:0000005	Mode of inheritance	21	ABCA3	OMIM:610921
HP:0000005	Mode of inheritance	157680	VPS13B	OMIM:216550
HP:0000005	Mode of inheritance	958	CD40	OMIM:606843
HP:0000005	Mode of inheritance	10715	CERS1	OMIM:616230
HP:0000005	Mode of inheritance	84504	NKX6-2	OMIM:617560
HP:0000005	Mode of inheritance	26284	ERAL1	OMIM:617565
HP:0000005	Mode of inheritance	4174	MCM5	OMIM:617564
HP:0000005	Mode of inheritance	25930	PTPN23	OMIM:618890
HP:0000005	Mode of inheritance	84314	TMEM107	OMIM:617563
HP:0000005	Mode of inheritance	84314	TMEM107	OMIM:617562
HP:0000005	Mode of inheritance	833	CARS1	OMIM:618891
HP:0000005	Mode of inheritance	285025	CCDC141	OMIM:146110
HP:0000005	Mode of inheritance	9723	SEMA3E	OMIM:146110
HP:0000005	Mode of inheritance	10011	SRA1	OMIM:146110
HP:0000005	Mode of inheritance	2796	GNRH1	OMIM:146110
HP:0000005	Mode of inheritance	2796	GNRH1	OMIM:614841
HP:0000005	Mode of inheritance	389549	FEZF1	OMIM:146110
HP:0000005	Mode of inheritance	389549	FEZF1	OMIM:616030
HP:0000005	Mode of inheritance	558	AXL	OMIM:146110
HP:0000005	Mode of inheritance	2798	GNRHR	OMIM:146110
HP:0000005	Mode of inheritance	10861	SLC26A1	OMIM:167030
HP:0000005	Mode of inheritance	10861	SLC26A1	OMIM:620372
HP:0000005	Mode of inheritance	54840	APTX	OMIM:208920
HP:0000005	Mode of inheritance	79731	NARS2	OMIM:616239
HP:0000005	Mode of inheritance	79731	NARS2	OMIM:618434
HP:0000005	Mode of inheritance	729230	CCR2	OMIM:219600
HP:0000005	Mode of inheritance	6820	SULT2B1	OMIM:617571
HP:0000005	Mode of inheritance	25981	DNAH1	OMIM:617576
HP:0000005	Mode of inheritance	25981	DNAH1	OMIM:617577
HP:0000005	Mode of inheritance	8879	SGPL1	OMIM:617575
HP:0000005	Mode of inheritance	142680	SLC34A3	OMIM:241530
HP:0000005	Mode of inheritance	23461	ABCA5	OMIM:135400
HP:0000005	Mode of inheritance	121214	SDR9C7	OMIM:617574
HP:0000005	Mode of inheritance	100128927	ZBTB42	OMIM:616248
HP:0000005	Mode of inheritance	1075	CTSC	OMIM:170650
HP:0000005	Mode of inheritance	1075	CTSC	OMIM:245010
HP:0000005	Mode of inheritance	1075	CTSC	OMIM:245000
HP:0000005	Mode of inheritance	23474	ETHE1	OMIM:602473
HP:0000005	Mode of inheritance	145258	GSC	OMIM:602471
HP:0000005	Mode of inheritance	6523	SLC5A1	OMIM:606824
HP:0000005	Mode of inheritance	3931	LCAT	OMIM:245900
HP:0000005	Mode of inheritance	3931	LCAT	OMIM:136120
HP:0000005	Mode of inheritance	5971	RELB	OMIM:617585
HP:0000005	Mode of inheritance	9474	ATG5	OMIM:617584
HP:0000005	Mode of inheritance	9928	KIF14	OMIM:616258
HP:0000005	Mode of inheritance	9928	KIF14	OMIM:617914
HP:0000005	Mode of inheritance	256471	MFSD8	OMIM:610951
HP:0000005	Mode of inheritance	256471	MFSD8	OMIM:616170
HP:0000005	Mode of inheritance	57724	EPG5	OMIM:242840
HP:0000005	Mode of inheritance	51651	PTRH2	OMIM:616263
HP:0000005	Mode of inheritance	55779	CFAP44	OMIM:617593
HP:0000005	Mode of inheritance	5692	PSMB4	OMIM:617591
HP:0000005	Mode of inheritance	9319	TRIP13	OMIM:617598
HP:0000005	Mode of inheritance	9319	TRIP13	OMIM:619011
HP:0000005	Mode of inheritance	2954	GSTZ1	OMIM:617596
HP:0000005	Mode of inheritance	10463	SLC30A9	OMIM:617595
HP:0000005	Mode of inheritance	388662	SLC6A17	OMIM:616269
HP:0000005	Mode of inheritance	51227	PIGP	OMIM:617599
HP:0000005	Mode of inheritance	64421	DCLRE1C	OMIM:602450
HP:0000005	Mode of inheritance	64421	DCLRE1C	OMIM:603554
HP:0000005	Mode of inheritance	6528	SLC5A5	OMIM:274400
HP:0000005	Mode of inheritance	10195	ALG3	OMIM:601110
HP:0000005	Mode of inheritance	258	AMBN	OMIM:616270
HP:0000005	Mode of inheritance	51645	PPIL1	OMIM:619301
HP:0000005	Mode of inheritance	51362	CDC40	OMIM:619302
HP:0000005	Mode of inheritance	5825	ABCD3	OMIM:616278
HP:0000005	Mode of inheritance	1758	DMP1	OMIM:241520
HP:0000005	Mode of inheritance	1892	ECHS1	OMIM:616277
HP:0000005	Mode of inheritance	51013	EXOSC1	OMIM:619304
HP:0000005	Mode of inheritance	55770	EXOC2	OMIM:619306
HP:0000005	Mode of inheritance	83893	SPATA16	OMIM:102530
HP:0000005	Mode of inheritance	84706	GPT2	OMIM:616281
HP:0000005	Mode of inheritance	4547	MTTP	OMIM:200100
HP:0000005	Mode of inheritance	55388	MCM10	OMIM:619313
HP:0000005	Mode of inheritance	3691	ITGB4	OMIM:226730
HP:0000005	Mode of inheritance	3691	ITGB4	OMIM:619816
HP:0000005	Mode of inheritance	5351	PLOD1	OMIM:225400
HP:0000005	Mode of inheritance	112	ADCY6	OMIM:616287
HP:0000005	Mode of inheritance	51728	POLR3K	OMIM:619310
HP:0000005	Mode of inheritance	1317	SLC31A1	OMIM:620306
HP:0000005	Mode of inheritance	85476	GFM1	OMIM:609060
HP:0000005	Mode of inheritance	6650	CAPN15	OMIM:619318
HP:0000005	Mode of inheritance	3032	HADHB	OMIM:620300
HP:0000005	Mode of inheritance	6548	SLC9A1	OMIM:616291
HP:0000005	Mode of inheritance	831	CAST	OMIM:616295
HP:0000005	Mode of inheritance	23102	TBC1D2B	OMIM:619323
HP:0000005	Mode of inheritance	9871	SEC24D	OMIM:616294
HP:0000005	Mode of inheritance	51601	LIPT1	OMIM:616299
HP:0000005	Mode of inheritance	8882	ZPR1	OMIM:619321
HP:0000005	Mode of inheritance	55215	FANCI	OMIM:609053
HP:0000005	Mode of inheritance	402569	KPNA7	OMIM:620319
HP:0000005	Mode of inheritance	1363	CPE	OMIM:619326
HP:0000005	Mode of inheritance	8893	EIF2B5	OMIM:620315
HP:0000005	Mode of inheritance	29968	PSAT1	OMIM:610992
HP:0000005	Mode of inheritance	29968	PSAT1	OMIM:616038
HP:0000005	Mode of inheritance	157922	CAMSAP1	OMIM:620316
HP:0000005	Mode of inheritance	8891	EIF2B3	OMIM:620313
HP:0000005	Mode of inheritance	8890	EIF2B4	OMIM:620314
HP:0000005	Mode of inheritance	8892	EIF2B2	OMIM:620312
HP:0000005	Mode of inheritance	6263	RYR3	OMIM:620310
HP:0000005	Mode of inheritance	977	CD151	OMIM:609057
HP:0000005	Mode of inheritance	8869	ST3GAL5	OMIM:609056
HP:0000005	Mode of inheritance	4166	CHST6	OMIM:217800
HP:0000005	Mode of inheritance	25929	GEMIN5	OMIM:619333
HP:0000005	Mode of inheritance	4703	NEB	OMIM:619334
HP:0000005	Mode of inheritance	4703	NEB	OMIM:256030
HP:0000005	Mode of inheritance	2530	FUT8	OMIM:618005
HP:0000005	Mode of inheritance	34	ACADM	OMIM:201450
HP:0000005	Mode of inheritance	79641	ROGDI	OMIM:226750
HP:0000005	Mode of inheritance	165	AEBP1	OMIM:618000
HP:0000005	Mode of inheritance	10082	GPC6	OMIM:258315
HP:0000005	Mode of inheritance	11080	DNAJB4	OMIM:620326
HP:0000005	Mode of inheritance	7965	AIMP2	OMIM:618006
HP:0000005	Mode of inheritance	400569	MED11	OMIM:620327
HP:0000005	Mode of inheritance	1147	CHUK	OMIM:619339
HP:0000005	Mode of inheritance	1147	CHUK	OMIM:613630
HP:0000005	Mode of inheritance	714	C1QC	OMIM:620322
HP:0000005	Mode of inheritance	10157	AASS	OMIM:238700
HP:0000005	Mode of inheritance	3913	LAMB2	OMIM:609049
HP:0000005	Mode of inheritance	3913	LAMB2	OMIM:614199
HP:0000005	Mode of inheritance	6491	STIL	OMIM:612703
HP:0000005	Mode of inheritance	713	C1QB	OMIM:620321
HP:0000005	Mode of inheritance	6768	ST14	OMIM:602400
HP:0000005	Mode of inheritance	9509	ADAMTS2	OMIM:225410
HP:0000005	Mode of inheritance	54845	ESRP1	OMIM:618013
HP:0000005	Mode of inheritance	26276	VPS33B	OMIM:208085
HP:0000005	Mode of inheritance	26276	VPS33B	OMIM:620009
HP:0000005	Mode of inheritance	26276	VPS33B	OMIM:620010
HP:0000005	Mode of inheritance	2661	GDF9	OMIM:618014
HP:0000005	Mode of inheritance	26175	LYSET	OMIM:619345
HP:0000005	Mode of inheritance	5283	PIGH	OMIM:618010
HP:0000005	Mode of inheritance	84896	ATAD1	OMIM:618011
HP:0000005	Mode of inheritance	79644	SRD5A3	OMIM:612713
HP:0000005	Mode of inheritance	79644	SRD5A3	OMIM:612379
HP:0000005	Mode of inheritance	126206	NLRP5	OMIM:620333
HP:0000005	Mode of inheritance	91039	DPP9	OMIM:620331
HP:0000005	Mode of inheritance	84701	COX4I2	OMIM:612714
HP:0000005	Mode of inheritance	55655	NLRP2	OMIM:620332
HP:0000005	Mode of inheritance	28982	FLVCR1	OMIM:609033
HP:0000005	Mode of inheritance	51241	COX16	OMIM:619355
HP:0000005	Mode of inheritance	3795	KHK	OMIM:229800
HP:0000005	Mode of inheritance	37	ACADVL	OMIM:201475
HP:0000005	Mode of inheritance	5281	PIGF	OMIM:619356
HP:0000005	Mode of inheritance	340419	RSPO2	OMIM:618021
HP:0000005	Mode of inheritance	340419	RSPO2	OMIM:618022
HP:0000005	Mode of inheritance	35	ACADS	OMIM:201470
HP:0000005	Mode of inheritance	5702	PSMC3	OMIM:619354
HP:0000005	Mode of inheritance	788	SLC25A20	OMIM:212138
HP:0000005	Mode of inheritance	5019	OXCT1	OMIM:245050
HP:0000005	Mode of inheritance	10283	CWC27	OMIM:250410
HP:0000005	Mode of inheritance	388531	RGS9BP	OMIM:620344
HP:0000005	Mode of inheritance	285590	SH3PXD2B	OMIM:249420
HP:0000005	Mode of inheritance	25802	LMOD1	OMIM:619362
HP:0000005	Mode of inheritance	23230	VPS13A	OMIM:200150
HP:0000005	Mode of inheritance	10398	MYL9	OMIM:619365
HP:0000005	Mode of inheritance	539	ATP5PO	OMIM:620359
HP:0000005	Mode of inheritance	51703	ACSL5	OMIM:620357
HP:0000005	Mode of inheritance	56171	DNAH7	OMIM:620356
HP:0000005	Mode of inheritance	3030	HADHA	OMIM:609015
HP:0000005	Mode of inheritance	3030	HADHA	OMIM:609016
HP:0000005	Mode of inheritance	10566	AKAP3	OMIM:620353
HP:0000005	Mode of inheritance	2593	GAMT	OMIM:612736
HP:0000005	Mode of inheritance	7802	DNALI1	OMIM:620354
HP:0000005	Mode of inheritance	6123	RPL3L	OMIM:619371
HP:0000005	Mode of inheritance	3554	IL1R1	OMIM:259680
HP:0000005	Mode of inheritance	55898	UNC45A	OMIM:619377
HP:0000005	Mode of inheritance	7390	UROS	OMIM:263700
HP:0000005	Mode of inheritance	375307	CATIP	OMIM:619379
HP:0000005	Mode of inheritance	6571	SLC18A2	OMIM:618049
HP:0000005	Mode of inheritance	3937	LCP2	OMIM:619374
HP:0000005	Mode of inheritance	210	ALAD	OMIM:612740
HP:0000005	Mode of inheritance	4157	MC1R	OMIM:203200
HP:0000005	Mode of inheritance	4948	OCA2	OMIM:203200
HP:0000005	Mode of inheritance	83715	ESPN	OMIM:609006
HP:0000005	Mode of inheritance	83715	ESPN	OMIM:618632
HP:0000005	Mode of inheritance	6522	SLC4A2	OMIM:620366
HP:0000005	Mode of inheritance	2683	B4GALT1	OMIM:620364
HP:0000005	Mode of inheritance	2683	B4GALT1	OMIM:607091
HP:0000005	Mode of inheritance	200162	SPAG17	OMIM:619380
HP:0000005	Mode of inheritance	5965	RECQL	OMIM:620370
HP:0000005	Mode of inheritance	84277	DNAJC30	OMIM:619382
HP:0000005	Mode of inheritance	57538	ALPK3	OMIM:618052
HP:0000005	Mode of inheritance	129285	PPP1R21	OMIM:619383
HP:0000005	Mode of inheritance	6913	TBX15	OMIM:260660
HP:0000005	Mode of inheritance	27072	VPS41	OMIM:619389
HP:0000005	Mode of inheritance	341208	HEPHL1	OMIM:261990
HP:0000005	Mode of inheritance	9054	NFS1	OMIM:619386
HP:0000005	Mode of inheritance	146059	CDAN1	OMIM:224120
HP:0000005	Mode of inheritance	221927	BRAT1	OMIM:618056
HP:0000005	Mode of inheritance	221927	BRAT1	OMIM:614498
HP:0000005	Mode of inheritance	267	AMFR	OMIM:620379
HP:0000005	Mode of inheritance	3156	HMGCR	OMIM:620375
HP:0000005	Mode of inheritance	90952	ESAM	OMIM:620371
HP:0000005	Mode of inheritance	6584	SLC22A5	OMIM:212140
HP:0000005	Mode of inheritance	4702	NDUFA8	OMIM:619272
HP:0000005	Mode of inheritance	158	ADSL	OMIM:103050
HP:0000005	Mode of inheritance	81555	YIPF5	OMIM:619278
HP:0000005	Mode of inheritance	347734	SLC35B2	OMIM:620269
HP:0000005	Mode of inheritance	345895	RSPH4A	OMIM:612649
HP:0000005	Mode of inheritance	4758	NEU1	OMIM:256550
HP:0000005	Mode of inheritance	9690	UBE3C	OMIM:620270
HP:0000005	Mode of inheritance	374654	KIF7	OMIM:200990
HP:0000005	Mode of inheritance	374654	KIF7	OMIM:607131
HP:0000005	Mode of inheritance	374654	KIF7	OMIM:614120
HP:0000005	Mode of inheritance	9442	MED27	OMIM:619286
HP:0000005	Mode of inheritance	221421	RSPH9	OMIM:612650
HP:0000005	Mode of inheritance	5176	SERPINF1	OMIM:613982
HP:0000005	Mode of inheritance	84140	FAM161A	OMIM:606068
HP:0000005	Mode of inheritance	56246	MRAP	OMIM:607398
HP:0000005	Mode of inheritance	55135	WRAP53	OMIM:613988
HP:0000005	Mode of inheritance	991	CDC20	OMIM:620276
HP:0000005	Mode of inheritance	64518	TEKT3	OMIM:620277
HP:0000005	Mode of inheritance	5476	CTSA	OMIM:256540
HP:0000005	Mode of inheritance	1353	COX11	OMIM:620275
HP:0000005	Mode of inheritance	3604	TNFRSF9	OMIM:620282
HP:0000005	Mode of inheritance	51324	SPG21	OMIM:248900
HP:0000005	Mode of inheritance	2533	FYB1	OMIM:273900
HP:0000005	Mode of inheritance	2642	GCGR	OMIM:619290
HP:0000005	Mode of inheritance	274	BIN1	OMIM:255200
HP:0000005	Mode of inheritance	36	ACADSB	OMIM:610006
HP:0000005	Mode of inheritance	7841	MOGS	OMIM:606056
HP:0000005	Mode of inheritance	5095	PCCA	OMIM:606054
HP:0000005	Mode of inheritance	5096	PCCB	OMIM:606054
HP:0000005	Mode of inheritance	26090	ABHD12	OMIM:612674
HP:0000005	Mode of inheritance	84984	CEP19	OMIM:615703
HP:0000005	Mode of inheritance	4338	MOCS2	OMIM:252160
HP:0000005	Mode of inheritance	2214	FCGR3A	OMIM:615707
HP:0000005	Mode of inheritance	79443	FYCO1	OMIM:610019
HP:0000005	Mode of inheritance	9711	RUBCN	OMIM:615705
HP:0000005	Mode of inheritance	23129	PLXND1	OMIM:620294
HP:0000005	Mode of inheritance	26227	PHGDH	OMIM:256520
HP:0000005	Mode of inheritance	26227	PHGDH	OMIM:601815
HP:0000005	Mode of inheritance	2677	GGCX	OMIM:277450
HP:0000005	Mode of inheritance	2677	GGCX	OMIM:610842
HP:0000005	Mode of inheritance	222546	RFX6	OMIM:615710
HP:0000005	Mode of inheritance	9255	AIMP1	OMIM:260600
HP:0000005	Mode of inheritance	375748	ERCC6L2	OMIM:615715
HP:0000005	Mode of inheritance	93210	PGAP3	OMIM:615716
HP:0000005	Mode of inheritance	728294	D2HGDH	OMIM:600721
HP:0000005	Mode of inheritance	9095	TBX19	OMIM:201400
HP:0000005	Mode of inheritance	2038	EPB42	OMIM:612690
HP:0000005	Mode of inheritance	974	CD79B	OMIM:612692
HP:0000005	Mode of inheritance	26281	FGF20	OMIM:615721
HP:0000005	Mode of inheritance	164045	HFM1	OMIM:615724
HP:0000005	Mode of inheritance	57709	SLC7A14	OMIM:615725
HP:0000005	Mode of inheritance	1811	SLC26A3	OMIM:214700
HP:0000005	Mode of inheritance	23396	PIP5K1C	OMIM:611369
HP:0000005	Mode of inheritance	7274	TTPA	OMIM:277460
HP:0000005	Mode of inheritance	471	ATIC	OMIM:608688
HP:0000005	Mode of inheritance	81031	SLC2A10	OMIM:208050
HP:0000005	Mode of inheritance	10324	KLHL41	OMIM:615731
HP:0000005	Mode of inheritance	26047	CNTNAP2	OMIM:610042
HP:0000005	Mode of inheritance	11023	VAX1	OMIM:614402
HP:0000005	Mode of inheritance	57704	GBA2	OMIM:614409
HP:0000005	Mode of inheritance	4313	MMP2	OMIM:259600
HP:0000005	Mode of inheritance	285440	CYP4V2	OMIM:210370
HP:0000005	Mode of inheritance	3918	LAMC2	OMIM:226700
HP:0000005	Mode of inheritance	3918	LAMC2	OMIM:619785
HP:0000005	Mode of inheritance	3918	LAMC2	OMIM:619786
HP:0000005	Mode of inheritance	25861	WHRN	OMIM:611383
HP:0000005	Mode of inheritance	25861	WHRN	OMIM:607084
HP:0000005	Mode of inheritance	56603	CYP26B1	OMIM:614416
HP:0000005	Mode of inheritance	6888	TALDO1	OMIM:606003
HP:0000005	Mode of inheritance	6309	SC5D	OMIM:607330
HP:0000005	Mode of inheritance	54808	DYM	OMIM:607326
HP:0000005	Mode of inheritance	54808	DYM	OMIM:223800
HP:0000005	Mode of inheritance	2982	GUCY1A1	OMIM:615750
HP:0000005	Mode of inheritance	1356	CP	OMIM:604290
HP:0000005	Mode of inheritance	1643	DDB2	OMIM:278740
HP:0000005	Mode of inheritance	1776	DNASE1L3	OMIM:614420
HP:0000005	Mode of inheritance	763	CA5A	OMIM:615751
HP:0000005	Mode of inheritance	3932	LCK	OMIM:615758
HP:0000005	Mode of inheritance	65062	TMEM237	OMIM:614424
HP:0000005	Mode of inheritance	4803	NGF	OMIM:608654
HP:0000005	Mode of inheritance	8556	CDC14A	OMIM:608653
HP:0000005	Mode of inheritance	27249	MMADHC	OMIM:277410
HP:0000005	Mode of inheritance	4173	MCM4	OMIM:609981
HP:0000005	Mode of inheritance	10999	SLC27A4	OMIM:608649
HP:0000005	Mode of inheritance	54768	HYDIN	OMIM:608647
HP:0000005	Mode of inheritance	55187	VPS13D	OMIM:607317
HP:0000005	Mode of inheritance	5859	QARS1	OMIM:615760
HP:0000005	Mode of inheritance	164656	TMPRSS6	OMIM:206200
HP:0000005	Mode of inheritance	6813	STXBP2	OMIM:613101
HP:0000005	Mode of inheritance	5429	POLH	OMIM:278750
HP:0000005	Mode of inheritance	1825	DSC3	OMIM:613102
HP:0000005	Mode of inheritance	30008	EFEMP2	OMIM:614437
HP:0000005	Mode of inheritance	59067	IL21	OMIM:615767
HP:0000005	Mode of inheritance	1644	DDC	OMIM:608643
HP:0000005	Mode of inheritance	6443	SGCB	OMIM:604286
HP:0000005	Mode of inheritance	64581	CLEC7A	OMIM:613108
HP:0000005	Mode of inheritance	1767	DNAH5	OMIM:608644
HP:0000005	Mode of inheritance	3033	HADH	OMIM:609975
HP:0000005	Mode of inheritance	3033	HADH	OMIM:231530
HP:0000005	Mode of inheritance	64221	ROBO3	OMIM:607313
HP:0000005	Mode of inheritance	8671	SLC4A4	OMIM:604278
HP:0000005	Mode of inheritance	9631	NUP155	OMIM:615770
HP:0000005	Mode of inheritance	79572	ATP13A3	OMIM:265400
HP:0000005	Mode of inheritance	23511	NUP188	OMIM:618804
HP:0000005	Mode of inheritance	26007	TKFC	OMIM:618805
HP:0000005	Mode of inheritance	22917	ZP1	OMIM:615774
HP:0000005	Mode of inheritance	54974	THG1L	OMIM:618800
HP:0000005	Mode of inheritance	54970	TTC12	OMIM:618801
HP:0000005	Mode of inheritance	20	ABCA2	OMIM:618808
HP:0000005	Mode of inheritance	91647	ATPAF2	OMIM:604273
HP:0000005	Mode of inheritance	54806	AHI1	OMIM:608629
HP:0000005	Mode of inheritance	9420	CYP7B1	OMIM:270800
HP:0000005	Mode of inheritance	9420	CYP7B1	OMIM:613812
HP:0000005	Mode of inheritance	55163	PNPO	OMIM:610090
HP:0000005	Mode of inheritance	338917	VSX2	OMIM:610092
HP:0000005	Mode of inheritance	338917	VSX2	OMIM:610093
HP:0000005	Mode of inheritance	55857	KIZ	OMIM:615780
HP:0000005	Mode of inheritance	7421	VDR	OMIM:277440
HP:0000005	Mode of inheritance	89874	SLC25A21	OMIM:618811
HP:0000005	Mode of inheritance	9419	CRIPT	OMIM:615789
HP:0000005	Mode of inheritance	27010	TPK1	OMIM:614458
HP:0000005	Mode of inheritance	10269	ZMPSTE24	OMIM:608612
HP:0000005	Mode of inheritance	10269	ZMPSTE24	OMIM:275210
HP:0000005	Mode of inheritance	11019	LIAS	OMIM:614462
HP:0000005	Mode of inheritance	58494	JAM2	OMIM:618824
HP:0000005	Mode of inheritance	4337	MOCS1	OMIM:252150
HP:0000005	Mode of inheritance	95681	CEP41	OMIM:614464
HP:0000005	Mode of inheritance	6531	SLC6A3	OMIM:613135
HP:0000005	Mode of inheritance	51524	TMEM138	OMIM:614465
HP:0000005	Mode of inheritance	91461	PKDCC	OMIM:618821
HP:0000005	Mode of inheritance	8087	FXR1	OMIM:618822
HP:0000005	Mode of inheritance	8087	FXR1	OMIM:618823
HP:0000005	Mode of inheritance	22934	RPIA	OMIM:608611
HP:0000005	Mode of inheritance	7036	TFR2	OMIM:604250
HP:0000005	Mode of inheritance	7507	XPA	OMIM:278700
HP:0000005	Mode of inheritance	55278	QRSL1	OMIM:618835
HP:0000005	Mode of inheritance	11005	SPINK5	OMIM:256500
HP:0000005	Mode of inheritance	5188	GATB	OMIM:618838
HP:0000005	Mode of inheritance	55704	CCDC88A	OMIM:617507
HP:0000005	Mode of inheritance	3587	IL10RA	OMIM:613148
HP:0000005	Mode of inheritance	283459	GATC	OMIM:618839
HP:0000005	Mode of inheritance	3094	HINT1	OMIM:137200
HP:0000005	Mode of inheritance	95	ACY1	OMIM:609924
HP:0000005	Mode of inheritance	2819	GPD1	OMIM:614480
HP:0000005	Mode of inheritance	29954	POMT2	OMIM:613150
HP:0000005	Mode of inheritance	29954	POMT2	OMIM:613156
HP:0000005	Mode of inheritance	29954	POMT2	OMIM:613158
HP:0000005	Mode of inheritance	29954	POMT2	OMIM:236670
HP:0000005	Mode of inheritance	7018	TF	OMIM:209300
HP:0000005	Mode of inheritance	79147	FKRP	OMIM:613153
HP:0000005	Mode of inheritance	79147	FKRP	OMIM:606612
HP:0000005	Mode of inheritance	79147	FKRP	OMIM:607155
HP:0000005	Mode of inheritance	79147	FKRP	OMIM:236670
HP:0000005	Mode of inheritance	27040	LAT	OMIM:617514
HP:0000005	Mode of inheritance	57591	MRTFA	OMIM:618847
HP:0000005	Mode of inheritance	64208	POPDC3	OMIM:618848
HP:0000005	Mode of inheritance	63929	XPNPEP3	OMIM:613159
HP:0000005	Mode of inheritance	55191	NADSYN1	OMIM:618845
HP:0000005	Mode of inheritance	63916	ELMO2	OMIM:606893
HP:0000005	Mode of inheritance	55812	SPATA7	OMIM:604232
HP:0000005	Mode of inheritance	57731	SPTBN4	OMIM:617519
HP:0000005	Mode of inheritance	7508	XPC	OMIM:278720
HP:0000005	Mode of inheritance	23155	CLCC1	OMIM:609913
HP:0000005	Mode of inheritance	587	BCAT2	OMIM:618850
HP:0000005	Mode of inheritance	29928	TIMM22	OMIM:618851
HP:0000005	Mode of inheritance	51733	UPB1	OMIM:613161
HP:0000005	Mode of inheritance	18	ABAT	OMIM:613163
HP:0000005	Mode of inheritance	22978	NT5C2	OMIM:613162
HP:0000005	Mode of inheritance	7456	WIPF1	OMIM:614493
HP:0000005	Mode of inheritance	2815	GP9	OMIM:231200
HP:0000005	Mode of inheritance	2812	GP1BB	OMIM:231200
HP:0000005	Mode of inheritance	8738	CRADD	OMIM:614499
HP:0000005	Mode of inheritance	9181	ARHGEF2	OMIM:617523
HP:0000005	Mode of inheritance	7957	EPM2A	OMIM:254780
HP:0000005	Mode of inheritance	25871	NEPRO	OMIM:618853
HP:0000005	Mode of inheritance	9373	PLAA	OMIM:617527
HP:0000005	Mode of inheritance	22868	FASTKD2	OMIM:618855
HP:0000005	Mode of inheritance	2531	KDSR	OMIM:617526
HP:0000005	Mode of inheritance	2068	ERCC2	OMIM:278730
HP:0000005	Mode of inheritance	2068	ERCC2	OMIM:610756
HP:0000005	Mode of inheritance	2068	ERCC2	OMIM:601675
HP:0000005	Mode of inheritance	5052	PRDX1	OMIM:277400
HP:0000005	Mode of inheritance	25974	MMACHC	OMIM:277400
HP:0000005	Mode of inheritance	1718	DHCR24	OMIM:602398
HP:0000005	Mode of inheritance	2549	GAB1	OMIM:605428
HP:0000005	Mode of inheritance	65217	PCDH15	OMIM:601067
HP:0000005	Mode of inheritance	65217	PCDH15	OMIM:609533
HP:0000005	Mode of inheritance	65217	PCDH15	OMIM:602083
HP:0000005	Mode of inheritance	51399	TRAPPC4	OMIM:618741
HP:0000005	Mode of inheritance	720	C4A	OMIM:614380
HP:0000005	Mode of inheritance	7360	UGP2	OMIM:618744
HP:0000005	Mode of inheritance	83894	TTC29	OMIM:618745
HP:0000005	Mode of inheritance	148738	HJV	OMIM:602390
HP:0000005	Mode of inheritance	5932	RBBP8	OMIM:606744
HP:0000005	Mode of inheritance	5932	RBBP8	OMIM:251255
HP:0000005	Mode of inheritance	79925	SPEF2	OMIM:618751
HP:0000005	Mode of inheritance	5651	TMPRSS15	OMIM:226200
HP:0000005	Mode of inheritance	2348	FOLR1	OMIM:613068
HP:0000005	Mode of inheritance	2137	EXTL3	OMIM:617425
HP:0000005	Mode of inheritance	5184	PEPD	OMIM:170100
HP:0000005	Mode of inheritance	84466	MEGF10	OMIM:614399
HP:0000005	Mode of inheritance	84466	MEGF10	OMIM:620249
HP:0000005	Mode of inheritance	79158	GNPTAB	OMIM:252500
HP:0000005	Mode of inheritance	79158	GNPTAB	OMIM:252600
HP:0000005	Mode of inheritance	7054	TH	OMIM:605407
HP:0000005	Mode of inheritance	57589	RIC1	OMIM:618761
HP:0000005	Mode of inheritance	55687	TRMU	OMIM:613070
HP:0000005	Mode of inheritance	4318	MMP9	OMIM:613073
HP:0000005	Mode of inheritance	317662	FAM149B1	OMIM:618763
HP:0000005	Mode of inheritance	1513	CTSK	OMIM:265800
HP:0000005	Mode of inheritance	54453	RIN2	OMIM:613075
HP:0000005	Mode of inheritance	23370	ARHGEF18	OMIM:617433
HP:0000005	Mode of inheritance	6884	TAF13	OMIM:617432
HP:0000005	Mode of inheritance	2671	GFER	OMIM:613076
HP:0000005	Mode of inheritance	125336	LOXHD1	OMIM:613079
HP:0000005	Mode of inheritance	10111	RAD50	OMIM:613078
HP:0000005	Mode of inheritance	55681	SCYL2	OMIM:618766
HP:0000005	Mode of inheritance	51109	RDH11	OMIM:616108
HP:0000005	Mode of inheritance	85465	SELENOI	OMIM:618768
HP:0000005	Mode of inheritance	1528	CYB5A	OMIM:250790
HP:0000005	Mode of inheritance	8659	ALDH4A1	OMIM:239510
HP:0000005	Mode of inheritance	84733	CBX2	OMIM:613080
HP:0000005	Mode of inheritance	10203	CALCRL	OMIM:618773
HP:0000005	Mode of inheritance	7386	UQCRFS1	OMIM:618775
HP:0000005	Mode of inheritance	4439	MSH5	OMIM:617442
HP:0000005	Mode of inheritance	4439	MSH5	OMIM:619937
HP:0000005	Mode of inheritance	5833	PCYT2	OMIM:618770
HP:0000005	Mode of inheritance	790955	UQCC3	OMIM:616111
HP:0000005	Mode of inheritance	80739	MPIG6B	OMIM:617441
HP:0000005	Mode of inheritance	3340	NDST1	OMIM:616116
HP:0000005	Mode of inheritance	284184	NDUFAF8	OMIM:618776
HP:0000005	Mode of inheritance	11081	KERA	OMIM:217300
HP:0000005	Mode of inheritance	11285	B4GALT7	OMIM:130070
HP:0000005	Mode of inheritance	5146	PDE6C	OMIM:613093
HP:0000005	Mode of inheritance	5314	PKHD1	OMIM:263200
HP:0000005	Mode of inheritance	152110	NEK10	OMIM:618781
HP:0000005	Mode of inheritance	51633	OTUD6B	OMIM:617452
HP:0000005	Mode of inheritance	55280	CWF19L1	OMIM:616127
HP:0000005	Mode of inheritance	9636	ISG15	OMIM:616126
HP:0000005	Mode of inheritance	144811	LACC1	OMIM:618795
HP:0000005	Mode of inheritance	253959	RALGAPA1	OMIM:618797
HP:0000005	Mode of inheritance	7358	UGDH	OMIM:618792
HP:0000005	Mode of inheritance	163175	LGI4	OMIM:617468
HP:0000005	Mode of inheritance	487	ATP2A1	OMIM:601003
HP:0000005	Mode of inheritance	5917	RARS1	OMIM:616140
HP:0000005	Mode of inheritance	23483	TGDS	OMIM:616145
HP:0000005	Mode of inheritance	2395	FXN	OMIM:229300
HP:0000005	Mode of inheritance	6603	SMARCD2	OMIM:617475
HP:0000005	Mode of inheritance	54916	TMEM260	OMIM:617478
HP:0000005	Mode of inheritance	79648	MCPH1	OMIM:251200
HP:0000005	Mode of inheritance	58497	PRUNE1	OMIM:617481
HP:0000005	Mode of inheritance	51314	NME8	OMIM:610852
HP:0000005	Mode of inheritance	56203	LMOD3	OMIM:616165
HP:0000005	Mode of inheritance	3081	HGD	OMIM:203500
HP:0000005	Mode of inheritance	7038	TG	OMIM:274700
HP:0000005	Mode of inheritance	10733	PLK4	OMIM:616171
HP:0000005	Mode of inheritance	55243	KIRREL1	OMIM:619201
HP:0000005	Mode of inheritance	317761	C14orf39	OMIM:619202
HP:0000005	Mode of inheritance	317761	C14orf39	OMIM:619203
HP:0000005	Mode of inheritance	5568	PRKACG	OMIM:616176
HP:0000005	Mode of inheritance	254394	MCM9	OMIM:616185
HP:0000005	Mode of inheritance	57007	ACKR3	OMIM:619215
HP:0000005	Mode of inheritance	7275	TUB	OMIM:616188
HP:0000005	Mode of inheritance	64856	VWA1	OMIM:619216
HP:0000005	Mode of inheritance	439	GET3	OMIM:620203
HP:0000005	Mode of inheritance	2019	EN1	OMIM:619218
HP:0000005	Mode of inheritance	1675	CFD	OMIM:613912
HP:0000005	Mode of inheritance	819	CAMLG	OMIM:620201
HP:0000005	Mode of inheritance	51608	GET4	OMIM:620200
HP:0000005	Mode of inheritance	3735	KARS1	OMIM:613916
HP:0000005	Mode of inheritance	3735	KARS1	OMIM:619196
HP:0000005	Mode of inheritance	3735	KARS1	OMIM:619147
HP:0000005	Mode of inheritance	3735	KARS1	OMIM:613641
HP:0000005	Mode of inheritance	56776	FMN2	OMIM:616193
HP:0000005	Mode of inheritance	5611	DNAJC3	OMIM:616192
HP:0000005	Mode of inheritance	1830	DSG3	OMIM:619226
HP:0000005	Mode of inheritance	7174	TPP2	OMIM:619220
HP:0000005	Mode of inheritance	58472	SQOR	OMIM:619221
HP:0000005	Mode of inheritance	2992	GYG1	OMIM:616199
HP:0000005	Mode of inheritance	2992	GYG1	OMIM:613507
HP:0000005	Mode of inheritance	84705	GTPBP3	OMIM:616198
HP:0000005	Mode of inheritance	6297	SALL2	OMIM:216820
HP:0000005	Mode of inheritance	8883	NAE1	OMIM:620210
HP:0000005	Mode of inheritance	55186	SLC25A36	OMIM:620211
HP:0000005	Mode of inheritance	9563	H6PD	OMIM:604931
HP:0000005	Mode of inheritance	84265	POLR3GL	OMIM:619234
HP:0000005	Mode of inheritance	4158	MC2R	OMIM:202200
HP:0000005	Mode of inheritance	2155	F7	OMIM:227500
HP:0000005	Mode of inheritance	570	BAAT	OMIM:619232
HP:0000005	Mode of inheritance	4070	TACSTD2	OMIM:204870
HP:0000005	Mode of inheritance	920	CD4	OMIM:619238
HP:0000005	Mode of inheritance	435	ASL	OMIM:207900
HP:0000005	Mode of inheritance	31	ACACA	OMIM:613933
HP:0000005	Mode of inheritance	3248	HPGD	OMIM:259100
HP:0000005	Mode of inheritance	3248	HPGD	OMIM:119900
HP:0000005	Mode of inheritance	493856	CISD2	OMIM:604928
HP:0000005	Mode of inheritance	11077	HSF2BP	OMIM:619245
HP:0000005	Mode of inheritance	55640	FLVCR2	OMIM:225790
HP:0000005	Mode of inheritance	91875	TTC5	OMIM:619244
HP:0000005	Mode of inheritance	100127206	MINAR2	OMIM:620238
HP:0000005	Mode of inheritance	643418	LIPN	OMIM:613943
HP:0000005	Mode of inheritance	84033	OBSCN	OMIM:620235
HP:0000005	Mode of inheritance	4773	NFATC2	OMIM:620232
HP:0000005	Mode of inheritance	10551	AGR2	OMIM:620233
HP:0000005	Mode of inheritance	60386	SLC25A19	OMIM:607196
HP:0000005	Mode of inheritance	60386	SLC25A19	OMIM:613710
HP:0000005	Mode of inheritance	10436	EMG1	OMIM:211180
HP:0000005	Mode of inheritance	1497	CTNS	OMIM:219900
HP:0000005	Mode of inheritance	1497	CTNS	OMIM:219800
HP:0000005	Mode of inheritance	1497	CTNS	OMIM:219750
HP:0000005	Mode of inheritance	6554	SLC10A1	OMIM:619256
HP:0000005	Mode of inheritance	284382	ACTL9	OMIM:619258
HP:0000005	Mode of inheritance	1315	COPB1	OMIM:619255
HP:0000005	Mode of inheritance	84464	SLX4	OMIM:613951
HP:0000005	Mode of inheritance	23765	IL17RA	OMIM:613953
HP:0000005	Mode of inheritance	283417	DPY19L2	OMIM:613958
HP:0000005	Mode of inheritance	10079	ATP9A	OMIM:620242
HP:0000005	Mode of inheritance	2801	GOLGA2	OMIM:620240
HP:0000005	Mode of inheritance	64802	NMNAT1	OMIM:619260
HP:0000005	Mode of inheritance	64802	NMNAT1	OMIM:608553
HP:0000005	Mode of inheritance	1893	ECM1	OMIM:247100
HP:0000005	Mode of inheritance	55181	SMG8	OMIM:619268
HP:0000005	Mode of inheritance	8516	ITGA8	OMIM:191830
HP:0000005	Mode of inheritance	375056	MIA3	OMIM:619269
HP:0000005	Mode of inheritance	23500	DAAM2	OMIM:619263
HP:0000005	Mode of inheritance	284361	EMC10	OMIM:619264
HP:0000005	Mode of inheritance	4689	NCF4	OMIM:613960
HP:0000005	Mode of inheritance	203	AK1	OMIM:612631
HP:0000005	Mode of inheritance	10749	KIF1C	OMIM:611302
HP:0000005	Mode of inheritance	5696	PSMB8	OMIM:256040
HP:0000005	Mode of inheritance	283450	HECTD4	OMIM:620250
HP:0000005	Mode of inheritance	5138	PDE2A	OMIM:619150
HP:0000005	Mode of inheritance	6770	STAR	OMIM:201710
HP:0000005	Mode of inheritance	9722	NOS1AP	OMIM:619155
HP:0000005	Mode of inheritance	3704	ITPA	OMIM:613850
HP:0000005	Mode of inheritance	3704	ITPA	OMIM:616647
HP:0000005	Mode of inheritance	1593	CYP27A1	OMIM:213700
HP:0000005	Mode of inheritance	781	CACNA2D1	OMIM:620149
HP:0000005	Mode of inheritance	2780	GNAT2	OMIM:613856
HP:0000005	Mode of inheritance	80144	FRAS1	OMIM:219000
HP:0000005	Mode of inheritance	9313	MMP20	OMIM:612529
HP:0000005	Mode of inheritance	23149	FCHO1	OMIM:619164
HP:0000005	Mode of inheritance	1638	DCT	OMIM:619165
HP:0000005	Mode of inheritance	644096	SDHAF1	OMIM:619166
HP:0000005	Mode of inheritance	8547	FCN3	OMIM:613860
HP:0000005	Mode of inheritance	10461	MERTK	OMIM:613862
HP:0000005	Mode of inheritance	375611	SLC26A5	OMIM:613865
HP:0000005	Mode of inheritance	26153	KIF26A	OMIM:620156
HP:0000005	Mode of inheritance	9382	COG1	OMIM:611209
HP:0000005	Mode of inheritance	338657	CENATAC	OMIM:620153
HP:0000005	Mode of inheritance	678	ZFP36L2	OMIM:620154
HP:0000005	Mode of inheritance	63915	BLOC1S5	OMIM:619172
HP:0000005	Mode of inheritance	645104	CLRN2	OMIM:619174
HP:0000005	Mode of inheritance	4718	NDUFC2	OMIM:619170
HP:0000005	Mode of inheritance	283677	REC114	OMIM:619176
HP:0000005	Mode of inheritance	89876	CFAP91	OMIM:619177
HP:0000005	Mode of inheritance	1272	CNTN1	OMIM:612540
HP:0000005	Mode of inheritance	92579	G6PC3	OMIM:612541
HP:0000005	Mode of inheritance	1801	DPH1	OMIM:616901
HP:0000005	Mode of inheritance	93627	TBCK	OMIM:616900
HP:0000005	Mode of inheritance	9570	GOSR2	OMIM:620166
HP:0000005	Mode of inheritance	9570	GOSR2	OMIM:614018
HP:0000005	Mode of inheritance	54675	CRLS1	OMIM:620167
HP:0000005	Mode of inheritance	823	CAPN1	OMIM:616907
HP:0000005	Mode of inheritance	10555	AGPAT2	OMIM:608594
HP:0000005	Mode of inheritance	56984	PSMG2	OMIM:619183
HP:0000005	Mode of inheritance	222663	SCUBE3	OMIM:619184
HP:0000005	Mode of inheritance	80726	IQCN	OMIM:620170
HP:0000005	Mode of inheritance	23116	TOGARAM1	OMIM:619185
HP:0000005	Mode of inheritance	6999	TDO2	OMIM:600627
HP:0000005	Mode of inheritance	55148	UBR7	OMIM:619189
HP:0000005	Mode of inheritance	55775	TDP1	OMIM:607250
HP:0000005	Mode of inheritance	23545	ATP6V0A2	OMIM:278250
HP:0000005	Mode of inheritance	23545	ATP6V0A2	OMIM:219200
HP:0000005	Mode of inheritance	79867	TCTN2	OMIM:613885
HP:0000005	Mode of inheritance	79867	TCTN2	OMIM:616654
HP:0000005	Mode of inheritance	3070	HELLS	OMIM:616911
HP:0000005	Mode of inheritance	83879	CDCA7	OMIM:616910
HP:0000005	Mode of inheritance	23424	TDRD7	OMIM:613887
HP:0000005	Mode of inheritance	54872	PIGG	OMIM:616917
HP:0000005	Mode of inheritance	79669	C3orf52	OMIM:620177
HP:0000005	Mode of inheritance	9653	HS2ST1	OMIM:619194
HP:0000005	Mode of inheritance	84138	SLC7A6OS	OMIM:619191
HP:0000005	Mode of inheritance	56006	SMG9	OMIM:616920
HP:0000005	Mode of inheritance	56006	SMG9	OMIM:619995
HP:0000005	Mode of inheritance	3588	IL10RB	OMIM:612567
HP:0000005	Mode of inheritance	55719	SLF2	OMIM:620184
HP:0000005	Mode of inheritance	23137	SMC5	OMIM:620185
HP:0000005	Mode of inheritance	10907	TXNL4A	OMIM:608572
HP:0000005	Mode of inheritance	55343	SLC35C1	OMIM:266265
HP:0000005	Mode of inheritance	79759	ZNF668	OMIM:620194
HP:0000005	Mode of inheritance	283209	PGM2L1	OMIM:620191
HP:0000005	Mode of inheritance	1737	DLAT	OMIM:245348
HP:0000005	Mode of inheritance	8050	PDHX	OMIM:245349
HP:0000005	Mode of inheritance	3420	IDH3B	OMIM:612572
HP:0000005	Mode of inheritance	54112	GPR88	OMIM:616939
HP:0000005	Mode of inheritance	917	CD3G	OMIM:615607
HP:0000005	Mode of inheritance	84946	LTV1	OMIM:620199
HP:0000005	Mode of inheritance	2103	ESRRB	OMIM:608565
HP:0000005	Mode of inheritance	85452	CFAP74	OMIM:620197
HP:0000005	Mode of inheritance	7234	TRU-TCA1-1	OMIM:620198
HP:0000005	Mode of inheritance	157855	KCNU1	OMIM:620196
HP:0000005	Mode of inheritance	3339	HSPG2	OMIM:224410
HP:0000005	Mode of inheritance	3339	HSPG2	OMIM:255800
HP:0000005	Mode of inheritance	916	CD3E	OMIM:615615
HP:0000005	Mode of inheritance	2961	GTF2E2	OMIM:616943
HP:0000005	Mode of inheritance	51567	TDP2	OMIM:616949
HP:0000005	Mode of inheritance	200403	VWA3B	OMIM:616948
HP:0000005	Mode of inheritance	915	CD3D	OMIM:615617
HP:0000005	Mode of inheritance	93426	SYCE1	OMIM:616947
HP:0000005	Mode of inheritance	93426	SYCE1	OMIM:616950
HP:0000005	Mode of inheritance	64788	LMF1	OMIM:246650
HP:0000005	Mode of inheritance	57560	IFT80	OMIM:611263
HP:0000005	Mode of inheritance	9894	TELO2	OMIM:616954
HP:0000005	Mode of inheritance	51095	TRNT1	OMIM:616959
HP:0000005	Mode of inheritance	51095	TRNT1	OMIM:616084
HP:0000005	Mode of inheritance	56052	ALG1	OMIM:608540
HP:0000005	Mode of inheritance	84627	ZNF469	OMIM:229200
HP:0000005	Mode of inheritance	89891	DYNC2I2	OMIM:615633
HP:0000005	Mode of inheritance	2584	GALK1	OMIM:230200
HP:0000005	Mode of inheritance	84529	CDIN1	OMIM:615631
HP:0000005	Mode of inheritance	132	ADK	OMIM:614300
HP:0000005	Mode of inheritance	79848	CSPP1	OMIM:615636
HP:0000005	Mode of inheritance	11133	KPTN	OMIM:615637
HP:0000005	Mode of inheritance	50506	DUOX2	OMIM:607200
HP:0000005	Mode of inheritance	23600	AMACR	OMIM:614307
HP:0000005	Mode of inheritance	23600	AMACR	OMIM:214950
HP:0000005	Mode of inheritance	79650	USB1	OMIM:604173
HP:0000005	Mode of inheritance	9150	CTDP1	OMIM:604168
HP:0000005	Mode of inheritance	9948	WDR1	OMIM:150550
HP:0000005	Mode of inheritance	3074	HEXB	OMIM:268800
HP:0000005	Mode of inheritance	27034	ACAD8	OMIM:611283
HP:0000005	Mode of inheritance	54931	TRMT10C	OMIM:616974
HP:0000005	Mode of inheritance	7200	TRH	OMIM:275120
HP:0000005	Mode of inheritance	23732	FRRS1L	OMIM:616981
HP:0000005	Mode of inheritance	29893	PSMC3IP	OMIM:614324
HP:0000005	Mode of inheritance	4358	MPV17	OMIM:256810
HP:0000005	Mode of inheritance	4358	MPV17	OMIM:618400
HP:0000005	Mode of inheritance	6868	ADAM17	OMIM:614328
HP:0000005	Mode of inheritance	9378	NRXN1	OMIM:614325
HP:0000005	Mode of inheritance	84693	MCEE	OMIM:251120
HP:0000005	Mode of inheritance	3712	IVD	OMIM:243500
HP:0000005	Mode of inheritance	8647	ABCB11	OMIM:605479
HP:0000005	Mode of inheritance	8647	ABCB11	OMIM:601847
HP:0000005	Mode of inheritance	5147	PDE6D	OMIM:615665
HP:0000005	Mode of inheritance	128637	TBC1D20	OMIM:615663
HP:0000005	Mode of inheritance	55969	RAB5IF	OMIM:616994
HP:0000005	Mode of inheritance	4914	NTRK1	OMIM:256800
HP:0000005	Mode of inheritance	5406	PNLIP	OMIM:614338
HP:0000005	Mode of inheritance	326625	MMAB	OMIM:251110
HP:0000005	Mode of inheritance	11078	TRIOBP	OMIM:609823
HP:0000005	Mode of inheritance	10367	MICU1	OMIM:615673
HP:0000005	Mode of inheritance	3702	ITK	OMIM:613011
HP:0000005	Mode of inheritance	55180	LINS1	OMIM:614340
HP:0000005	Mode of inheritance	1103	CHAT	OMIM:254210
HP:0000005	Mode of inheritance	189	AGXT	OMIM:259900
HP:0000005	Mode of inheritance	80152	CENPT	OMIM:618702
HP:0000005	Mode of inheritance	64805	P2RY12	OMIM:609821
HP:0000005	Mode of inheritance	3955	LFNG	OMIM:609813
HP:0000005	Mode of inheritance	953	ENTPD1	OMIM:615683
HP:0000005	Mode of inheritance	10613	ERLIN1	OMIM:615681
HP:0000005	Mode of inheritance	23204	ARL6IP1	OMIM:615685
HP:0000005	Mode of inheritance	5261	PHKG2	OMIM:613027
HP:0000005	Mode of inheritance	54658	UGT1A1	OMIM:606785
HP:0000005	Mode of inheritance	54658	UGT1A1	OMIM:218800
HP:0000005	Mode of inheritance	54658	UGT1A1	OMIM:237900
HP:0000005	Mode of inheritance	54658	UGT1A1	OMIM:143500
HP:0000005	Mode of inheritance	84628	NTNG2	OMIM:618718
HP:0000005	Mode of inheritance	204	AK2	OMIM:267500
HP:0000005	Mode of inheritance	2806	GOT2	OMIM:618721
HP:0000005	Mode of inheritance	7473	WNT3	OMIM:273395
HP:0000005	Mode of inheritance	8086	AAAS	OMIM:231550
HP:0000005	Mode of inheritance	8139	GAN	OMIM:256850
HP:0000005	Mode of inheritance	1439	CSF2RB	OMIM:614370
HP:0000005	Mode of inheritance	51075	TMX2	OMIM:618730
HP:0000005	Mode of inheritance	22948	CCT5	OMIM:256840
HP:0000005	Mode of inheritance	51763	INPP5K	OMIM:617404
HP:0000005	Mode of inheritance	10844	TUBGCP2	OMIM:618737
HP:0000005	Mode of inheritance	529	ATP6V1E1	OMIM:617402
HP:0000005	Mode of inheritance	255758	DYNLT2B	OMIM:617405
HP:0000005	Mode of inheritance	9381	OTOF	OMIM:601071
HP:0000005	Mode of inheritance	64699	TMPRSS3	OMIM:601072
HP:0000005	Mode of inheritance	352909	DNAAF3	OMIM:606763
HP:0000005	Mode of inheritance	7252	TSHB	OMIM:275100
HP:0000005	Mode of inheritance	10617	STAMBP	OMIM:614261
HP:0000005	Mode of inheritance	57128	LYRM4	OMIM:615595
HP:0000005	Mode of inheritance	197322	ACSF3	OMIM:614265
HP:0000005	Mode of inheritance	7293	TNFRSF4	OMIM:615593
HP:0000005	Mode of inheritance	6873	TAF2	OMIM:615599
HP:0000005	Mode of inheritance	201595	STT3B	OMIM:615597
HP:0000005	Mode of inheritance	8710	SERPINB7	OMIM:615598
HP:0000005	Mode of inheritance	55627	SMPD4	OMIM:618622
HP:0000005	Mode of inheritance	23417	MLYCD	OMIM:248360
HP:0000005	Mode of inheritance	5361	PLXNA1	OMIM:619955
HP:0000005	Mode of inheritance	64682	ANAPC1	OMIM:618625
HP:0000005	Mode of inheritance	5830	PEX5	OMIM:214110
HP:0000005	Mode of inheritance	5830	PEX5	OMIM:616716
HP:0000005	Mode of inheritance	5830	PEX5	OMIM:202370
HP:0000005	Mode of inheritance	1131	CHRM3	OMIM:100100
HP:0000005	Mode of inheritance	64094	SMOC2	OMIM:125400
HP:0000005	Mode of inheritance	9380	GRHPR	OMIM:260000
HP:0000005	Mode of inheritance	6536	SLC6A9	OMIM:617301
HP:0000005	Mode of inheritance	1109	AKR1C4	OMIM:614279
HP:0000005	Mode of inheritance	1646	AKR1C2	OMIM:614279
HP:0000005	Mode of inheritance	92840	REEP6	OMIM:617304
HP:0000005	Mode of inheritance	65082	VPS33A	OMIM:617303
HP:0000005	Mode of inheritance	7941	PLA2G7	OMIM:614278
HP:0000005	Mode of inheritance	10730	YME1L1	OMIM:617302
HP:0000005	Mode of inheritance	8309	ACOX2	OMIM:617308
HP:0000005	Mode of inheritance	128486	FITM2	OMIM:618635
HP:0000005	Mode of inheritance	57156	TMEM63C	OMIM:619966
HP:0000005	Mode of inheritance	9200	HACD1	OMIM:619967
HP:0000005	Mode of inheritance	7486	WRN	OMIM:277700
HP:0000005	Mode of inheritance	5189	PEX1	OMIM:214100
HP:0000005	Mode of inheritance	5189	PEX1	OMIM:234580
HP:0000005	Mode of inheritance	5189	PEX1	OMIM:601539
HP:0000005	Mode of inheritance	55034	MOCOS	OMIM:603592
HP:0000005	Mode of inheritance	10559	SLC35A1	OMIM:603585
HP:0000005	Mode of inheritance	54	ACP5	OMIM:607944
HP:0000005	Mode of inheritance	60561	RINT1	OMIM:618641
HP:0000005	Mode of inheritance	129685	TAF8	OMIM:619972
HP:0000005	Mode of inheritance	10584	COLEC10	OMIM:248340
HP:0000005	Mode of inheritance	8632	DNAH17	OMIM:618643
HP:0000005	Mode of inheritance	10379	IRF9	OMIM:618648
HP:0000005	Mode of inheritance	23184	MESD	OMIM:618644
HP:0000005	Mode of inheritance	27151	CPAMD8	OMIM:617319
HP:0000005	Mode of inheritance	170825	GSX2	OMIM:618646
HP:0000005	Mode of inheritance	6445	SGCG	OMIM:253700
HP:0000005	Mode of inheritance	1475	CSTA	OMIM:607936
HP:0000005	Mode of inheritance	154288	KHDC3L	OMIM:614293
HP:0000005	Mode of inheritance	22872	SEC31A	OMIM:618651
HP:0000005	Mode of inheritance	283987	HID1	OMIM:619983
HP:0000005	Mode of inheritance	55214	P3H2	OMIM:614292
HP:0000005	Mode of inheritance	497661	C18orf32	OMIM:619985
HP:0000005	Mode of inheritance	3612	IMPA1	OMIM:617323
HP:0000005	Mode of inheritance	56992	KIF15	OMIM:619981
HP:0000005	Mode of inheritance	23581	CASP14	OMIM:617320
HP:0000005	Mode of inheritance	388962	BOLA3	OMIM:614299
HP:0000005	Mode of inheritance	55521	TRIM36	OMIM:206500
HP:0000005	Mode of inheritance	9731	CEP104	OMIM:619988
HP:0000005	Mode of inheritance	9731	CEP104	OMIM:616781
HP:0000005	Mode of inheritance	55623	THUMPD1	OMIM:619989
HP:0000005	Mode of inheritance	105371045	PERCC1	OMIM:618662
HP:0000005	Mode of inheritance	255101	CFAP65	OMIM:618664
HP:0000005	Mode of inheritance	29081	METTL5	OMIM:618665
HP:0000005	Mode of inheritance	54914	FOCAD	OMIM:619991
HP:0000005	Mode of inheritance	5792	PTPRF	OMIM:616001
HP:0000005	Mode of inheritance	2936	GSR	OMIM:618660
HP:0000005	Mode of inheritance	55699	IARS2	OMIM:616007
HP:0000005	Mode of inheritance	79633	FAT4	OMIM:616006
HP:0000005	Mode of inheritance	79633	FAT4	OMIM:615546
HP:0000005	Mode of inheritance	64240	ABCG5	OMIM:618666
HP:0000005	Mode of inheritance	4191	MDH2	OMIM:617339
HP:0000005	Mode of inheritance	166785	MMAA	OMIM:251100
HP:0000005	Mode of inheritance	2248	FGF3	OMIM:610706
HP:0000005	Mode of inheritance	5551	PRF1	OMIM:603553
HP:0000005	Mode of inheritance	8676	STX11	OMIM:603552
HP:0000005	Mode of inheritance	79991	STN1	OMIM:617341
HP:0000005	Mode of inheritance	118491	CFAP70	OMIM:618670
HP:0000005	Mode of inheritance	10297	APC2	OMIM:618677
HP:0000005	Mode of inheritance	10297	APC2	OMIM:617169
HP:0000005	Mode of inheritance	57104	PNPLA2	OMIM:610717
HP:0000005	Mode of inheritance	147409	DSG4	OMIM:607903
HP:0000005	Mode of inheritance	9922	IQSEC1	OMIM:618687
HP:0000005	Mode of inheritance	284098	PIGW	OMIM:616025
HP:0000005	Mode of inheritance	4193	MDM2	OMIM:618681
HP:0000005	Mode of inheritance	84833	ATP5MK	OMIM:618683
HP:0000005	Mode of inheritance	84522	JAGN1	OMIM:616022
HP:0000005	Mode of inheritance	2591	GALNT3	OMIM:211900
HP:0000005	Mode of inheritance	5213	PFKM	OMIM:232800
HP:0000005	Mode of inheritance	51196	PLCE1	OMIM:610725
HP:0000005	Mode of inheritance	345643	MCIDAS	OMIM:618695
HP:0000005	Mode of inheritance	133686	NADK2	OMIM:616034
HP:0000005	Mode of inheritance	93587	TRMT10A	OMIM:616033
HP:0000005	Mode of inheritance	1337	COX6A1	OMIM:616039
HP:0000005	Mode of inheritance	115948	ODAD3	OMIM:616037
HP:0000005	Mode of inheritance	10456	HAX1	OMIM:610738
HP:0000005	Mode of inheritance	23111	SPART	OMIM:275900
HP:0000005	Mode of inheritance	8504	PEX3	OMIM:617370
HP:0000005	Mode of inheritance	8504	PEX3	OMIM:614882
HP:0000005	Mode of inheritance	53405	CLIC5	OMIM:616042
HP:0000005	Mode of inheritance	56521	DNAJC12	OMIM:617384
HP:0000005	Mode of inheritance	100151683	RNU4ATAC	OMIM:226960
HP:0000005	Mode of inheritance	100151683	RNU4ATAC	OMIM:210710
HP:0000005	Mode of inheritance	100151683	RNU4ATAC	OMIM:616651
HP:0000005	Mode of inheritance	1062	CENPE	OMIM:616051
HP:0000005	Mode of inheritance	8867	SYNJ1	OMIM:617389
HP:0000005	Mode of inheritance	8867	SYNJ1	OMIM:615530
HP:0000005	Mode of inheritance	10126	DNAL4	OMIM:616059
HP:0000005	Mode of inheritance	9622	KLK4	OMIM:204700
HP:0000005	Mode of inheritance	2067	ERCC1	OMIM:610758
HP:0000005	Mode of inheritance	10166	SLC25A15	OMIM:238970
HP:0000005	Mode of inheritance	83999	KREMEN1	OMIM:617392
HP:0000005	Mode of inheritance	3938	LCT	OMIM:223000
HP:0000005	Mode of inheritance	10940	POP1	OMIM:617396
HP:0000005	Mode of inheritance	22796	COG2	OMIM:617395
HP:0000005	Mode of inheritance	11274	USP18	OMIM:617397
HP:0000005	Mode of inheritance	1585	CYP11B2	OMIM:203400
HP:0000005	Mode of inheritance	1585	CYP11B2	OMIM:610600
HP:0000005	Mode of inheritance	22845	DOLK	OMIM:610768
HP:0000005	Mode of inheritance	4864	NPC1	OMIM:257220
HP:0000005	Mode of inheritance	80324	PUS1	OMIM:600462
HP:0000005	Mode of inheritance	112812	FDX2	OMIM:251900
HP:0000005	Mode of inheritance	9451	EIF2AK3	OMIM:226980
HP:0000005	Mode of inheritance	5250	SLC25A3	OMIM:610773
HP:0000005	Mode of inheritance	5000	ORC4	OMIM:613800
HP:0000005	Mode of inheritance	130951	M1AP	OMIM:619108
HP:0000005	Mode of inheritance	81620	CDT1	OMIM:613804
HP:0000005	Mode of inheritance	23594	ORC6	OMIM:613803
HP:0000005	Mode of inheritance	990	CDC6	OMIM:613805
HP:0000005	Mode of inheritance	55036	CCDC40	OMIM:613808
HP:0000005	Mode of inheritance	339829	CCDC39	OMIM:613807
HP:0000005	Mode of inheritance	11340	EXOSC8	OMIM:616081
HP:0000005	Mode of inheritance	1021	CDK6	OMIM:616080
HP:0000005	Mode of inheritance	57545	CC2D2A	OMIM:619111
HP:0000005	Mode of inheritance	57545	CC2D2A	OMIM:619845
HP:0000005	Mode of inheritance	57545	CC2D2A	OMIM:612285
HP:0000005	Mode of inheritance	57545	CC2D2A	OMIM:612284
HP:0000005	Mode of inheritance	79005	SCNM1	OMIM:620107
HP:0000005	Mode of inheritance	51091	SEPSECS	OMIM:613811
HP:0000005	Mode of inheritance	5145	PDE6A	OMIM:613810
HP:0000005	Mode of inheritance	50846	DHH	OMIM:607080
HP:0000005	Mode of inheritance	50846	DHH	OMIM:233420
HP:0000005	Mode of inheritance	8468	FKBP6	OMIM:620103
HP:0000005	Mode of inheritance	4796	TONSL	OMIM:271510
HP:0000005	Mode of inheritance	113189	CHST14	OMIM:601776
HP:0000005	Mode of inheritance	2916	GRM6	OMIM:257270
HP:0000005	Mode of inheritance	2571	GAD1	OMIM:619124
HP:0000005	Mode of inheritance	90522	YIF1B	OMIM:619125
HP:0000005	Mode of inheritance	10651	MTX2	OMIM:619127
HP:0000005	Mode of inheritance	55755	CDK5RAP2	OMIM:604804
HP:0000005	Mode of inheritance	6472	SHMT2	OMIM:619121
HP:0000005	Mode of inheritance	90416	CCDC32	OMIM:619123
HP:0000005	Mode of inheritance	10161	LPAR6	OMIM:278150
HP:0000005	Mode of inheritance	28956	LAMTOR2	OMIM:610798
HP:0000005	Mode of inheritance	118924	FRA10AC1	OMIM:620113
HP:0000005	Mode of inheritance	23169	SLC35D1	OMIM:269250
HP:0000005	Mode of inheritance	22995	CEP152	OMIM:613823
HP:0000005	Mode of inheritance	22995	CEP152	OMIM:614852
HP:0000005	Mode of inheritance	57096	RPGRIP1	OMIM:613826
HP:0000005	Mode of inheritance	57096	RPGRIP1	OMIM:608194
HP:0000005	Mode of inheritance	57020	VPS35L	OMIM:619135
HP:0000005	Mode of inheritance	11014	KDELR2	OMIM:619131
HP:0000005	Mode of inheritance	57152	SLURP1	OMIM:248300
HP:0000005	Mode of inheritance	55835	CPAP	OMIM:608393
HP:0000005	Mode of inheritance	55835	CPAP	OMIM:613676
HP:0000005	Mode of inheritance	383	ARG1	OMIM:207800
HP:0000005	Mode of inheritance	9187	SLC24A1	OMIM:613830
HP:0000005	Mode of inheritance	1719	DHFR	OMIM:613839
HP:0000005	Mode of inheritance	224	ALDH3A2	OMIM:270200
HP:0000005	Mode of inheritance	7516	XRCC2	OMIM:619146
HP:0000005	Mode of inheritance	7516	XRCC2	OMIM:619145
HP:0000005	Mode of inheritance	7516	XRCC2	OMIM:617247
HP:0000005	Mode of inheritance	5626	PROP1	OMIM:262600
HP:0000005	Mode of inheritance	1586	CYP17A1	OMIM:202110
HP:0000005	Mode of inheritance	159686	CFAP58	OMIM:619144
HP:0000005	Mode of inheritance	375298	CERKL	OMIM:608380
HP:0000005	Mode of inheritance	132001	TAMM41	OMIM:620139
HP:0000005	Mode of inheritance	7388	UQCRH	OMIM:620137
HP:0000005	Mode of inheritance	90523	MLIP	OMIM:620138
HP:0000005	Mode of inheritance	4713	NDUFB7	OMIM:620135
HP:0000005	Mode of inheritance	54938	SARS2	OMIM:613845
HP:0000005	Mode of inheritance	64858	DCLRE1B	OMIM:620133
HP:0000005	Mode of inheritance	26275	HIBCH	OMIM:250620
HP:0000005	Mode of inheritance	50640	PNPLA8	OMIM:251950
HP:0000005	Mode of inheritance	55172	DNAAF2	OMIM:612518
HP:0000005	Mode of inheritance	121340	SP7	OMIM:613849
HP:0000005	Mode of inheritance	84189	SLITRK6	OMIM:221200
HP:0000005	Mode of inheritance	126326	GIPC3	OMIM:601869
HP:0000005	Mode of inheritance	8838	CCN6	OMIM:208230
HP:0000005	Mode of inheritance	51181	DCXR	OMIM:260800
HP:0000005	Mode of inheritance	83700	JAM3	OMIM:613730
HP:0000005	Mode of inheritance	7109	TRAPPC10	OMIM:620027
HP:0000005	Mode of inheritance	8854	ALDH1A2	OMIM:620025
HP:0000005	Mode of inheritance	1119	CHKA	OMIM:620023
HP:0000005	Mode of inheritance	8496	PPFIBP1	OMIM:620024
HP:0000005	Mode of inheritance	118987	PDZD8	OMIM:620021
HP:0000005	Mode of inheritance	501	ALDH7A1	OMIM:266100
HP:0000005	Mode of inheritance	3073	HEXA	OMIM:272800
HP:0000005	Mode of inheritance	6840	SVIL	OMIM:619040
HP:0000005	Mode of inheritance	1636	ACE	OMIM:267430
HP:0000005	Mode of inheritance	183	AGT	OMIM:267430
HP:0000005	Mode of inheritance	6341	SCO1	OMIM:619048
HP:0000005	Mode of inheritance	162	AP1B1	OMIM:242150
HP:0000005	Mode of inheritance	201134	CEP112	OMIM:619044
HP:0000005	Mode of inheritance	1352	COX10	OMIM:619046
HP:0000005	Mode of inheritance	5689	PSMB1	OMIM:620038
HP:0000005	Mode of inheritance	8382	NME5	OMIM:620032
HP:0000005	Mode of inheritance	63908	NAPB	OMIM:620033
HP:0000005	Mode of inheritance	1340	COX6B1	OMIM:619051
HP:0000005	Mode of inheritance	51204	TACO1	OMIM:619052
HP:0000005	Mode of inheritance	84987	COX14	OMIM:619053
HP:0000005	Mode of inheritance	28958	COA3	OMIM:619058
HP:0000005	Mode of inheritance	10216	PRG4	OMIM:208250
HP:0000005	Mode of inheritance	1351	COX8A	OMIM:619059
HP:0000005	Mode of inheritance	116228	COX20	OMIM:619054
HP:0000005	Mode of inheritance	100131801	PET100	OMIM:619055
HP:0000005	Mode of inheritance	55037	PTCD3	OMIM:619057
HP:0000005	Mode of inheritance	1136	CHRNA3	OMIM:191800
HP:0000005	Mode of inheritance	191	AHCY	OMIM:613752
HP:0000005	Mode of inheritance	340024	SLC6A19	OMIM:234500
HP:0000005	Mode of inheritance	3818	KLKB1	OMIM:612423
HP:0000005	Mode of inheritance	3911	LAMA5	OMIM:620049
HP:0000005	Mode of inheritance	3911	LAMA5	OMIM:620076
HP:0000005	Mode of inheritance	10015	PDCD6IP	OMIM:620047
HP:0000005	Mode of inheritance	8772	FADD	OMIM:613759
HP:0000005	Mode of inheritance	1854	DUT	OMIM:620044
HP:0000005	Mode of inheritance	79087	ALG12	OMIM:607143
HP:0000005	Mode of inheritance	84334	COA8	OMIM:619061
HP:0000005	Mode of inheritance	1339	COX6A2	OMIM:619062
HP:0000005	Mode of inheritance	100303755	PET117	OMIM:619063
HP:0000005	Mode of inheritance	9377	COX5A	OMIM:619064
HP:0000005	Mode of inheritance	1327	COX4I1	OMIM:619060
HP:0000005	Mode of inheritance	4697	NDUFA4	OMIM:619065
HP:0000005	Mode of inheritance	10282	BET1	OMIM:254100
HP:0000005	Mode of inheritance	1258	CNGB1	OMIM:613767
HP:0000005	Mode of inheritance	55157	DARS2	OMIM:611105
HP:0000005	Mode of inheritance	144165	PRICKLE1	OMIM:612437
HP:0000005	Mode of inheritance	9333	TGM5	OMIM:609796
HP:0000005	Mode of inheritance	23265	EXOC7	OMIM:619072
HP:0000005	Mode of inheritance	1802	DPH2	OMIM:620062
HP:0000005	Mode of inheritance	2615	LRRC32	OMIM:619074
HP:0000005	Mode of inheritance	5091	PC	OMIM:266150
HP:0000005	Mode of inheritance	1267	CNP	OMIM:619071
HP:0000005	Mode of inheritance	149371	EXOC8	OMIM:619076
HP:0000005	Mode of inheritance	64446	DNAI2	OMIM:612444
HP:0000005	Mode of inheritance	285175	UNC80	OMIM:616801
HP:0000005	Mode of inheritance	729	C6	OMIM:612446
HP:0000005	Mode of inheritance	171019	ADAMTS19	OMIM:620067
HP:0000005	Mode of inheritance	83475	DOHH	OMIM:620066
HP:0000005	Mode of inheritance	84992	PIGY	OMIM:616809
HP:0000005	Mode of inheritance	55027	HEATR3	OMIM:620072
HP:0000005	Mode of inheritance	5700	PSMC1	OMIM:620071
HP:0000005	Mode of inheritance	79816	TLE6	OMIM:616814
HP:0000005	Mode of inheritance	11149	POPDC1	OMIM:616812
HP:0000005	Mode of inheritance	732	C8B	OMIM:613789
HP:0000005	Mode of inheritance	28976	ACAD9	OMIM:611126
HP:0000005	Mode of inheritance	25828	TXN2	OMIM:616811
HP:0000005	Mode of inheritance	84919	PPP1R15B	OMIM:616817
HP:0000005	Mode of inheritance	51244	CCDC174	OMIM:616816
HP:0000005	Mode of inheritance	54862	CC2D1A	OMIM:608443
HP:0000005	Mode of inheritance	55691	FRMD4A	OMIM:616819
HP:0000005	Mode of inheritance	10430	TMEM147	OMIM:620075
HP:0000005	Mode of inheritance	146754	DNAH2	OMIM:619094
HP:0000005	Mode of inheritance	91057	CCDC34	OMIM:620084
HP:0000005	Mode of inheritance	1769	DNAH8	OMIM:619095
HP:0000005	Mode of inheritance	9080	CLDN9	OMIM:619093
HP:0000005	Mode of inheritance	731	C8A	OMIM:613790
HP:0000005	Mode of inheritance	9147	NEMF	OMIM:619099
HP:0000005	Mode of inheritance	10747	MASP2	OMIM:613791
HP:0000005	Mode of inheritance	1604	CD55	OMIM:613793
HP:0000005	Mode of inheritance	1604	CD55	OMIM:226300
HP:0000005	Mode of inheritance	147007	TMEM199	OMIM:616829
HP:0000005	Mode of inheritance	84317	CCDC115	OMIM:616828
HP:0000005	Mode of inheritance	53904	MYO3A	OMIM:607101
HP:0000005	Mode of inheritance	55679	LIMS2	OMIM:616827
HP:0000005	Mode of inheritance	51251	NT5C3A	OMIM:266120
HP:0000005	Mode of inheritance	2581	GALC	OMIM:245200
HP:0000005	Mode of inheritance	56683	CFAP298	OMIM:615500
HP:0000005	Mode of inheritance	85478	CCDC65	OMIM:615504
HP:0000005	Mode of inheritance	6674	SPAG1	OMIM:615505
HP:0000005	Mode of inheritance	6307	MSMO1	OMIM:616834
HP:0000005	Mode of inheritance	55112	DYNC2I1	OMIM:615503
HP:0000005	Mode of inheritance	81034	SLC25A32	OMIM:616839
HP:0000005	Mode of inheritance	8787	RGS9	OMIM:608415
HP:0000005	Mode of inheritance	270	AMPD1	OMIM:615511
HP:0000005	Mode of inheritance	4907	NT5E	OMIM:211800
HP:0000005	Mode of inheritance	7167	TPI1	OMIM:615512
HP:0000005	Mode of inheritance	29926	GMPPA	OMIM:615510
HP:0000005	Mode of inheritance	54832	VPS13C	OMIM:616840
HP:0000005	Mode of inheritance	10	NAT2	OMIM:243400
HP:0000005	Mode of inheritance	948	CD36	OMIM:608404
HP:0000005	Mode of inheritance	23094	SIPA1L3	OMIM:616851
HP:0000005	Mode of inheritance	10758	TRAF3IP2	OMIM:615527
HP:0000005	Mode of inheritance	9829	DNAJC6	OMIM:615528
HP:0000005	Mode of inheritance	51218	GLRX5	OMIM:616859
HP:0000005	Mode of inheritance	51218	GLRX5	OMIM:616860
HP:0000005	Mode of inheritance	10265	IRX5	OMIM:611174
HP:0000005	Mode of inheritance	11253	MAN1B1	OMIM:614202
HP:0000005	Mode of inheritance	10841	FTCD	OMIM:229100
HP:0000005	Mode of inheritance	55806	HR	OMIM:209500
HP:0000005	Mode of inheritance	55806	HR	OMIM:203655
HP:0000005	Mode of inheritance	51206	GP6	OMIM:614201
HP:0000005	Mode of inheritance	27315	PGAP2	OMIM:614207
HP:0000005	Mode of inheritance	6550	SLC9A3	OMIM:616868
HP:0000005	Mode of inheritance	26525	IL36RN	OMIM:614204
HP:0000005	Mode of inheritance	83987	CCDC8	OMIM:614205
HP:0000005	Mode of inheritance	29940	DSE	OMIM:615539
HP:0000005	Mode of inheritance	27077	B9D1	OMIM:614209
HP:0000005	Mode of inheritance	27077	B9D1	OMIM:617120
HP:0000005	Mode of inheritance	4594	MMUT	OMIM:251000
HP:0000005	Mode of inheritance	23400	ATP13A2	OMIM:606693
HP:0000005	Mode of inheritance	23400	ATP13A2	OMIM:617225
HP:0000005	Mode of inheritance	163183	SYNE4	OMIM:615540
HP:0000005	Mode of inheritance	84342	COG8	OMIM:611182
HP:0000005	Mode of inheritance	80185	TTI2	OMIM:615541
HP:0000005	Mode of inheritance	3293	HSD17B3	OMIM:264300
HP:0000005	Mode of inheritance	7289	TULP3	OMIM:619902
HP:0000005	Mode of inheritance	23065	EMC1	OMIM:616875
HP:0000005	Mode of inheritance	128989	TANGO2	OMIM:616878
HP:0000005	Mode of inheritance	57572	DOCK6	OMIM:614219
HP:0000005	Mode of inheritance	7074	TIAM1	OMIM:619908
HP:0000005	Mode of inheritance	59336	PRDM13	OMIM:619909
HP:0000005	Mode of inheritance	59336	PRDM13	OMIM:619761
HP:0000005	Mode of inheritance	59344	ALOXE3	OMIM:242100
HP:0000005	Mode of inheritance	59344	ALOXE3	OMIM:606545
HP:0000005	Mode of inheritance	242	ALOX12B	OMIM:242100
HP:0000005	Mode of inheritance	51501	HIKESHI	OMIM:616881
HP:0000005	Mode of inheritance	3490	IGFBP7	OMIM:614224
HP:0000005	Mode of inheritance	22931	RAB18	OMIM:614222
HP:0000005	Mode of inheritance	23443	SLC35A3	OMIM:615553
HP:0000005	Mode of inheritance	940	CD28	OMIM:620901
HP:0000005	Mode of inheritance	5580	PRKCD	OMIM:615559
HP:0000005	Mode of inheritance	255928	SYT14	OMIM:614229
HP:0000005	Mode of inheritance	23209	MLC1	OMIM:604004
HP:0000005	Mode of inheritance	51124	IER3IP1	OMIM:614231
HP:0000005	Mode of inheritance	23165	NUP205	OMIM:616893
HP:0000005	Mode of inheritance	5075	PAX1	OMIM:615560
HP:0000005	Mode of inheritance	9688	NUP93	OMIM:616892
HP:0000005	Mode of inheritance	5788	PTPRC	OMIM:619924
HP:0000005	Mode of inheritance	202018	TAPT1	OMIM:616897
HP:0000005	Mode of inheritance	4751	NEK2	OMIM:615565
HP:0000005	Mode of inheritance	55164	SHQ1	OMIM:619921
HP:0000005	Mode of inheritance	55164	SHQ1	OMIM:619922
HP:0000005	Mode of inheritance	27232	GNMT	OMIM:606664
HP:0000005	Mode of inheritance	79934	COQ8B	OMIM:615573
HP:0000005	Mode of inheritance	440	ASNS	OMIM:615574
HP:0000005	Mode of inheritance	5538	PPT1	OMIM:256730
HP:0000005	Mode of inheritance	3454	IFNAR1	OMIM:619935
HP:0000005	Mode of inheritance	1203	CLN5	OMIM:256731
HP:0000005	Mode of inheritance	119559	SFXN4	OMIM:615578
HP:0000005	Mode of inheritance	738	VPS51	OMIM:618606
HP:0000005	Mode of inheritance	4438	MSH4	OMIM:619938
HP:0000005	Mode of inheritance	4438	MSH4	OMIM:108420
HP:0000005	Mode of inheritance	9439	MED23	OMIM:614249
HP:0000005	Mode of inheritance	101929726	MYMX	OMIM:619941
HP:0000005	Mode of inheritance	158401	SHOC1	OMIM:619949
HP:0000005	Mode of inheritance	57670	KIAA1549	OMIM:618613
HP:0000005	Mode of inheritance	26235	FBXL4	OMIM:615471
HP:0000005	Mode of inheritance	125150	ZSWIM7	OMIM:619831
HP:0000005	Mode of inheritance	125150	ZSWIM7	OMIM:619834
HP:0000005	Mode of inheritance	5993	RFX5	OMIM:620818
HP:0000005	Mode of inheritance	5993	RFX5	OMIM:620816
HP:0000005	Mode of inheritance	5994	RFXAP	OMIM:620817
HP:0000005	Mode of inheritance	23308	ICOSLG	OMIM:620825
HP:0000005	Mode of inheritance	23334	SZT2	OMIM:615476
HP:0000005	Mode of inheritance	9254	CACNA2D2	OMIM:618501
HP:0000005	Mode of inheritance	4897	NRCAM	OMIM:619833
HP:0000005	Mode of inheritance	91801	ALKBH8	OMIM:618504
HP:0000005	Mode of inheritance	197131	UBR1	OMIM:243800
HP:0000005	Mode of inheritance	89765	RSPH1	OMIM:615481
HP:0000005	Mode of inheritance	8566	PDXK	OMIM:618511
HP:0000005	Mode of inheritance	1841	DTYMK	OMIM:619847
HP:0000005	Mode of inheritance	84936	ZFYVE19	OMIM:619849
HP:0000005	Mode of inheritance	318	NUDT2	OMIM:619844
HP:0000005	Mode of inheritance	85015	USP45	OMIM:618513
HP:0000005	Mode of inheritance	24142	NAA80	OMIM:620830
HP:0000005	Mode of inheritance	56259	CTNNBL1	OMIM:619846
HP:0000005	Mode of inheritance	2188	FANCF	OMIM:603467
HP:0000005	Mode of inheritance	288	ANK3	OMIM:615493
HP:0000005	Mode of inheritance	23321	TRIM2	OMIM:615490
HP:0000005	Mode of inheritance	2660	MSTN	OMIM:614160
HP:0000005	Mode of inheritance	5105	PCK1	OMIM:261680
HP:0000005	Mode of inheritance	881	CCIN	OMIM:620838
HP:0000005	Mode of inheritance	2876	GPX1	OMIM:614164
HP:0000005	Mode of inheritance	283652	SLC24A5	OMIM:113750
HP:0000005	Mode of inheritance	1777	DNASE2	OMIM:619858
HP:0000005	Mode of inheritance	10233	LRRC23	OMIM:620848
HP:0000005	Mode of inheritance	10606	PAICS	OMIM:619859
HP:0000005	Mode of inheritance	64359	NXN	OMIM:618529
HP:0000005	Mode of inheritance	79140	CCDC28B	OMIM:209900
HP:0000005	Mode of inheritance	582	BBS1	OMIM:209900
HP:0000005	Mode of inheritance	221711	SYCP2L	OMIM:620840
HP:0000005	Mode of inheritance	10484	SEC23A	OMIM:607812
HP:0000005	Mode of inheritance	79600	TCTN1	OMIM:614173
HP:0000005	Mode of inheritance	11107	PRDM5	OMIM:614170
HP:0000005	Mode of inheritance	26258	BLOC1S6	OMIM:614171
HP:0000005	Mode of inheritance	1594	CYP27B1	OMIM:264700
HP:0000005	Mode of inheritance	5224	PGAM2	OMIM:261670
HP:0000005	Mode of inheritance	65975	STK33	OMIM:620849
HP:0000005	Mode of inheritance	80776	B9D2	OMIM:614175
HP:0000005	Mode of inheritance	8550	MAPKAPK5	OMIM:619869
HP:0000005	Mode of inheritance	168507	PKD1L1	OMIM:617205
HP:0000005	Mode of inheritance	1201	CLN3	OMIM:204200
HP:0000005	Mode of inheritance	10125	RASGRP1	OMIM:618534
HP:0000005	Mode of inheritance	1474	CST6	OMIM:618535
HP:0000005	Mode of inheritance	11193	WBP4	OMIM:620852
HP:0000005	Mode of inheritance	57639	CCDC146	OMIM:620850
HP:0000005	Mode of inheritance	126410	CYP4F22	OMIM:604777
HP:0000005	Mode of inheritance	4117	MAK	OMIM:614181
HP:0000005	Mode of inheritance	8482	SEMA7A	OMIM:619874
HP:0000005	Mode of inheritance	23729	SHPK	OMIM:617213
HP:0000005	Mode of inheritance	3590	IL11RA	OMIM:614188
HP:0000005	Mode of inheritance	8111	GPR68	OMIM:617217
HP:0000005	Mode of inheritance	10068	IL18BP	OMIM:618549
HP:0000005	Mode of inheritance	4261	CIITA	OMIM:209920
HP:0000005	Mode of inheritance	89869	PLCZ1	OMIM:617214
HP:0000005	Mode of inheritance	51692	CPSF3	OMIM:619876
HP:0000005	Mode of inheritance	6897	TARS1	OMIM:618546
HP:0000005	Mode of inheritance	116115	ZNF526	OMIM:619877
HP:0000005	Mode of inheritance	54456	MOV10L1	OMIM:619878
HP:0000005	Mode of inheritance	79770	TXNDC15	OMIM:619879
HP:0000005	Mode of inheritance	9091	PIGQ	OMIM:618548
HP:0000005	Mode of inheritance	27068	PPA2	OMIM:617223
HP:0000005	Mode of inheritance	27068	PPA2	OMIM:617222
HP:0000005	Mode of inheritance	5800	PTPRO	OMIM:614196
HP:0000005	Mode of inheritance	10991	SLC38A3	OMIM:619881
HP:0000005	Mode of inheritance	4285	MIPEP	OMIM:617228
HP:0000005	Mode of inheritance	641	BLM	OMIM:210900
HP:0000005	Mode of inheritance	2674	GFRA1	OMIM:619887
HP:0000005	Mode of inheritance	2620	GAS2	OMIM:620877
HP:0000005	Mode of inheritance	23007	PLCH1	OMIM:619895
HP:0000005	Mode of inheritance	442721	LMOD2	OMIM:619897
HP:0000005	Mode of inheritance	353238	PADI6	OMIM:617234
HP:0000005	Mode of inheritance	6572	SLC18A3	OMIM:617239
HP:0000005	Mode of inheritance	84131	CEP78	OMIM:617236
HP:0000005	Mode of inheritance	29960	MRM2	OMIM:618567
HP:0000005	Mode of inheritance	374969	SVBP	OMIM:618569
HP:0000005	Mode of inheritance	2184	FAH	OMIM:276700
HP:0000005	Mode of inheritance	6476	SI	OMIM:222900
HP:0000005	Mode of inheritance	56160	NSMCE3	OMIM:617241
HP:0000005	Mode of inheritance	26173	INTS1	OMIM:618571
HP:0000005	Mode of inheritance	55656	INTS8	OMIM:618572
HP:0000005	Mode of inheritance	10459	MAD2L2	OMIM:617243
HP:0000005	Mode of inheritance	7201	TRHR	OMIM:618573
HP:0000005	Mode of inheritance	78995	HROB	OMIM:620897
HP:0000005	Mode of inheritance	165918	RNF168	OMIM:611943
HP:0000005	Mode of inheritance	343035	RD3	OMIM:610612
HP:0000005	Mode of inheritance	410	ARSA	OMIM:250100
HP:0000005	Mode of inheritance	3321	IGSF3	OMIM:149700
HP:0000005	Mode of inheritance	9361	LONP1	OMIM:600373
HP:0000005	Mode of inheritance	9488	PIGB	OMIM:618580
HP:0000005	Mode of inheritance	2266	FGG	OMIM:202400
HP:0000005	Mode of inheritance	2244	FGB	OMIM:202400
HP:0000005	Mode of inheritance	286053	NSMCE2	OMIM:617253
HP:0000005	Mode of inheritance	7062	TCHH	OMIM:617252
HP:0000005	Mode of inheritance	7053	TGM3	OMIM:617251
HP:0000005	Mode of inheritance	160418	TMTC3	OMIM:617255
HP:0000005	Mode of inheritance	79912	PYROXD1	OMIM:617258
HP:0000005	Mode of inheritance	4967	OGDH	OMIM:203740
HP:0000005	Mode of inheritance	128869	PIGU	OMIM:618590
HP:0000005	Mode of inheritance	10677	AVIL	OMIM:618594
HP:0000005	Mode of inheritance	5053	PAH	OMIM:261600
HP:0000005	Mode of inheritance	427	ASAH1	OMIM:159950
HP:0000005	Mode of inheritance	427	ASAH1	OMIM:228000
HP:0000005	Mode of inheritance	23005	MAPKBP1	OMIM:617271
HP:0000005	Mode of inheritance	55250	ELP2	OMIM:617270
HP:0000005	Mode of inheritance	4998	ORC1	OMIM:224690
HP:0000005	Mode of inheritance	1621	DBH	OMIM:223360
HP:0000005	Mode of inheritance	8120	AP3B2	OMIM:617276
HP:0000005	Mode of inheritance	284654	RSPO1	OMIM:610644
HP:0000005	Mode of inheritance	549	AUH	OMIM:250950
HP:0000005	Mode of inheritance	6821	SUOX	OMIM:272300
HP:0000005	Mode of inheritance	6557	SLC12A1	OMIM:601678
HP:0000005	Mode of inheritance	23258	DENND5A	OMIM:617281
HP:0000005	Mode of inheritance	2009	EML1	OMIM:600348
HP:0000005	Mode of inheritance	55630	SLC39A4	OMIM:201100
HP:0000005	Mode of inheritance	38	ACAT1	OMIM:203750
HP:0000005	Mode of inheritance	4548	MTR	OMIM:250940
HP:0000005	Mode of inheritance	4548	MTR	OMIM:601634
HP:0000005	Mode of inheritance	11212	PLPBP	OMIM:617290
HP:0000005	Mode of inheritance	93650	ACP4	OMIM:617297
HP:0000005	Mode of inheritance	405753	DUOXA2	OMIM:274900
HP:0000005	Mode of inheritance	136647	MPLKIP	OMIM:234050
HP:0000005	Mode of inheritance	11322	TMC6	OMIM:226400
HP:0000005	Mode of inheritance	4716	NDUFB10	OMIM:619003
HP:0000005	Mode of inheritance	8567	MADD	OMIM:619004
HP:0000005	Mode of inheritance	8567	MADD	OMIM:619005
HP:0000005	Mode of inheritance	5106	PCK2	OMIM:261650
HP:0000005	Mode of inheritance	3419	IDH3A	OMIM:619007
HP:0000005	Mode of inheritance	343637	RSPO4	OMIM:206800
HP:0000005	Mode of inheritance	54766	BTG4	OMIM:619009
HP:0000005	Mode of inheritance	7284	TUFM	OMIM:610678
HP:0000005	Mode of inheritance	26278	SACS	OMIM:270550
HP:0000005	Mode of inheritance	5805	PTS	OMIM:261640
HP:0000005	Mode of inheritance	51168	MYO15A	OMIM:600316
HP:0000005	Mode of inheritance	63899	NSUN3	OMIM:619012
HP:0000005	Mode of inheritance	2193	FARSA	OMIM:619013
HP:0000005	Mode of inheritance	10491	CRTAP	OMIM:610682
HP:0000005	Mode of inheritance	203190	LGI3	OMIM:620007
HP:0000005	Mode of inheritance	5557	PRIM1	OMIM:620005
HP:0000005	Mode of inheritance	1073	CFL2	OMIM:610687
HP:0000005	Mode of inheritance	84081	NSRP1	OMIM:620001
HP:0000005	Mode of inheritance	253827	MSRB3	OMIM:613718
HP:0000005	Mode of inheritance	219844	HYLS1	OMIM:236680
HP:0000005	Mode of inheritance	4644	MYO5A	OMIM:214450
HP:0000005	Mode of inheritance	64432	MRPS25	OMIM:619025
HP:0000005	Mode of inheritance	84842	HPDL	OMIM:619026
HP:0000005	Mode of inheritance	84842	HPDL	OMIM:619027
HP:0000005	Mode of inheritance	5860	QDPR	OMIM:261630
HP:0000005	Mode of inheritance	84274	COQ5	OMIM:619028
HP:0000005	Mode of inheritance	25793	FBXO7	OMIM:260300
HP:0000005	Mode of inheritance	125170	MIEF2	OMIM:619024
HP:0000005	Mode of inheritance	23236	PLCB1	OMIM:613722
HP:0000005	Mode of inheritance	29969	MDFIC	OMIM:620014
HP:0000005	Mode of inheritance	6342	SCP2	OMIM:613724
HP:0000005	Mode of inheritance	3082	HGF	OMIM:608265
HP:0000005	Mode of inheritance	55129	ANO10	OMIM:613728
HP:0000005	Mode of inheritance	5784	PTPN14	OMIM:613611
HP:0000005	Mode of inheritance	57539	WDR35	OMIM:613610
HP:0000005	Mode of inheritance	57539	WDR35	OMIM:614091
HP:0000005	Mode of inheritance	283310	OTOGL	OMIM:614944
HP:0000005	Mode of inheritance	10466	COG5	OMIM:613612
HP:0000005	Mode of inheritance	130557	ZNF513	OMIM:613617
HP:0000005	Mode of inheritance	340990	OTOG	OMIM:614945
HP:0000005	Mode of inheritance	112817	HOGA1	OMIM:613616
HP:0000005	Mode of inheritance	146183	OTOA	OMIM:607039
HP:0000005	Mode of inheritance	768206	PRCD	OMIM:610599
HP:0000005	Mode of inheritance	90411	MCFD2	OMIM:613625
HP:0000005	Mode of inheritance	79048	SECISBP2	OMIM:609698
HP:0000005	Mode of inheritance	6439	SFTPB	OMIM:265120
HP:0000005	Mode of inheritance	5119	CHMP1A	OMIM:614961
HP:0000005	Mode of inheritance	3952	LEP	OMIM:614962
HP:0000005	Mode of inheritance	966	CD59	OMIM:612300
HP:0000005	Mode of inheritance	2538	G6PC1	OMIM:232200
HP:0000005	Mode of inheritance	3953	LEPR	OMIM:614963
HP:0000005	Mode of inheritance	114034	TOE1	OMIM:614969
HP:0000005	Mode of inheritance	79583	TMEM231	OMIM:614970
HP:0000005	Mode of inheritance	79583	TMEM231	OMIM:615397
HP:0000005	Mode of inheritance	1954	MEGF8	OMIM:614976
HP:0000005	Mode of inheritance	340665	CYP26C1	OMIM:614974
HP:0000005	Mode of inheritance	51293	CD320	OMIM:613646
HP:0000005	Mode of inheritance	3425	IDUA	OMIM:607014
HP:0000005	Mode of inheritance	3425	IDUA	OMIM:607016
HP:0000005	Mode of inheritance	3425	IDUA	OMIM:607015
HP:0000005	Mode of inheritance	9907	AP5Z1	OMIM:613647
HP:0000005	Mode of inheritance	79152	FA2H	OMIM:612319
HP:0000005	Mode of inheritance	593	BCKDHA	OMIM:248600
HP:0000005	Mode of inheritance	712	C1QA	OMIM:613652
HP:0000005	Mode of inheritance	10056	FARSB	OMIM:613658
HP:0000005	Mode of inheritance	54499	TMCO1	OMIM:213980
HP:0000005	Mode of inheritance	23175	LPIN1	OMIM:268200
HP:0000005	Mode of inheritance	92211	CDHR1	OMIM:613660
HP:0000005	Mode of inheritance	440138	ALG11	OMIM:613661
HP:0000005	Mode of inheritance	9440	MED17	OMIM:613668
HP:0000005	Mode of inheritance	286676	ILDR1	OMIM:609646
HP:0000005	Mode of inheritance	55084	SOBP	OMIM:613671
HP:0000005	Mode of inheritance	55149	MTPAP	OMIM:613672
HP:0000005	Mode of inheritance	445	ASS1	OMIM:215700
HP:0000005	Mode of inheritance	4942	OAT	OMIM:258870
HP:0000005	Mode of inheritance	22856	CHSY1	OMIM:605282
HP:0000005	Mode of inheritance	79228	THOC6	OMIM:613680
HP:0000005	Mode of inheritance	91252	SLC39A13	OMIM:612350
HP:0000005	Mode of inheritance	5962	RDX	OMIM:611022
HP:0000005	Mode of inheritance	84667	HES7	OMIM:613686
HP:0000005	Mode of inheritance	57410	SCYL1	OMIM:616719
HP:0000005	Mode of inheritance	9663	LPIN2	OMIM:609628
HP:0000005	Mode of inheritance	64116	SLC39A8	OMIM:616721
HP:0000005	Mode of inheritance	1305	COL13A1	OMIM:616720
HP:0000005	Mode of inheritance	2622	GAS8	OMIM:616726
HP:0000005	Mode of inheritance	30062	RAX	OMIM:611038
HP:0000005	Mode of inheritance	6948	TCN2	OMIM:275350
HP:0000005	Mode of inheritance	89970	RSPRY1	OMIM:616723
HP:0000005	Mode of inheritance	8795	TNFRSF10B	OMIM:275355
HP:0000005	Mode of inheritance	3621	ING1	OMIM:275355
HP:0000005	Mode of inheritance	669	BPGM	OMIM:222800
HP:0000005	Mode of inheritance	57379	AICDA	OMIM:605258
HP:0000005	Mode of inheritance	83552	MFRP	OMIM:611040
HP:0000005	Mode of inheritance	83552	MFRP	OMIM:609549
HP:0000005	Mode of inheritance	11151	CORO1A	OMIM:615401
HP:0000005	Mode of inheritance	440275	EIF2AK4	OMIM:234810
HP:0000005	Mode of inheritance	84816	RTN4IP1	OMIM:616732
HP:0000005	Mode of inheritance	6900	CNTN2	OMIM:615400
HP:0000005	Mode of inheritance	2729	GCLC	OMIM:230450
HP:0000005	Mode of inheritance	7037	TFRC	OMIM:616740
HP:0000005	Mode of inheritance	80746	TSEN2	OMIM:612389
HP:0000005	Mode of inheritance	1911	PHC1	OMIM:615414
HP:0000005	Mode of inheritance	51151	SLC45A2	OMIM:606574
HP:0000005	Mode of inheritance	118856	MMP21	OMIM:616749
HP:0000005	Mode of inheritance	79042	TSEN34	OMIM:612390
HP:0000005	Mode of inheritance	8985	PLOD3	OMIM:612394
HP:0000005	Mode of inheritance	57449	PLEKHG5	OMIM:611067
HP:0000005	Mode of inheritance	57449	PLEKHG5	OMIM:615376
HP:0000005	Mode of inheritance	57531	HACE1	OMIM:616756
HP:0000005	Mode of inheritance	10568	SLC34A2	OMIM:265100
HP:0000005	Mode of inheritance	1589	CYP21A2	OMIM:201910
HP:0000005	Mode of inheritance	4043	LRPAP1	OMIM:615431
HP:0000005	Mode of inheritance	147183	KRT25	OMIM:616760
HP:0000005	Mode of inheritance	5732	PTGER2	OMIM:208550
HP:0000005	Mode of inheritance	23568	ARL2BP	OMIM:615434
HP:0000005	Mode of inheritance	64857	PLEKHG2	OMIM:616763
HP:0000005	Mode of inheritance	3514	IGKC	OMIM:614102
HP:0000005	Mode of inheritance	51520	LARS1	OMIM:615438
HP:0000005	Mode of inheritance	4329	ALDH6A1	OMIM:614105
HP:0000005	Mode of inheritance	5162	PDHB	OMIM:614111
HP:0000005	Mode of inheritance	60528	ELAC2	OMIM:615440
HP:0000005	Mode of inheritance	10293	TRAIP	OMIM:616777
HP:0000005	Mode of inheritance	9702	CEP57	OMIM:614114
HP:0000005	Mode of inheritance	92335	STRADA	OMIM:611087
HP:0000005	Mode of inheritance	84660	CCDC62	OMIM:619803
HP:0000005	Mode of inheritance	10319	LAMC3	OMIM:614115
HP:0000005	Mode of inheritance	151254	C2CD6	OMIM:619805
HP:0000005	Mode of inheritance	51364	ZMYND10	OMIM:615444
HP:0000005	Mode of inheritance	5294	PIK3CG	OMIM:619802
HP:0000005	Mode of inheritance	54888	NSUN2	OMIM:611091
HP:0000005	Mode of inheritance	7991	TUSC3	OMIM:611093
HP:0000005	Mode of inheritance	23247	KATNIP	OMIM:616784
HP:0000005	Mode of inheritance	1537	CYC1	OMIM:615453
HP:0000005	Mode of inheritance	55130	ODAD2	OMIM:615451
HP:0000005	Mode of inheritance	3655	ITGA6	OMIM:619817
HP:0000005	Mode of inheritance	8192	CLPP	OMIM:614129
HP:0000005	Mode of inheritance	170692	ADAMTS18	OMIM:615458
HP:0000005	Mode of inheritance	9939	RBM8A	OMIM:274000
HP:0000005	Mode of inheritance	115286	SLC25A26	OMIM:616794
HP:0000005	Mode of inheritance	4643	MYO1E	OMIM:614131
HP:0000005	Mode of inheritance	6892	TAPBP	OMIM:620814
HP:0000005	Mode of inheritance	10892	MALT1	OMIM:615468
HP:0000005	Mode of inheritance	199720	GGN	OMIM:619826
HP:0000005	Mode of inheritance	8625	RFXANK	OMIM:620815
HP:0000005	Mode of inheritance	55367	PIDD1	OMIM:619827
HP:0000005	Mode of inheritance	6891	TAP2	OMIM:620813
HP:0000005	Mode of inheritance	5161	PDHA2	OMIM:619828
HP:0000005	Mode of inheritance	23141	ANKLE2	OMIM:616681
HP:0000005	Mode of inheritance	4099	MAG	OMIM:616680
HP:0000005	Mode of inheritance	29925	GMPPB	OMIM:615350
HP:0000005	Mode of inheritance	29925	GMPPB	OMIM:615351
HP:0000005	Mode of inheritance	29925	GMPPB	OMIM:615352
HP:0000005	Mode of inheritance	6834	SURF1	OMIM:616684
HP:0000005	Mode of inheritance	6834	SURF1	OMIM:220110
HP:0000005	Mode of inheritance	5723	PSPH	OMIM:614023
HP:0000005	Mode of inheritance	9524	TECR	OMIM:614020
HP:0000005	Mode of inheritance	253017	TECRL	OMIM:614021
HP:0000005	Mode of inheritance	51126	NAA20	OMIM:619717
HP:0000005	Mode of inheritance	60684	TRAPPC11	OMIM:615356
HP:0000005	Mode of inheritance	9231	DLG5	OMIM:620703
HP:0000005	Mode of inheritance	10973	ASCC3	OMIM:620700
HP:0000005	Mode of inheritance	144132	DNHD1	OMIM:619712
HP:0000005	Mode of inheritance	6898	TAT	OMIM:276600
HP:0000005	Mode of inheritance	84942	WDR73	OMIM:251300
HP:0000005	Mode of inheritance	3891	KRT85	OMIM:602032
HP:0000005	Mode of inheritance	3162	HMOX1	OMIM:614034
HP:0000005	Mode of inheritance	8722	CTSF	OMIM:615362
HP:0000005	Mode of inheritance	5322	PLA2G5	OMIM:228980
HP:0000005	Mode of inheritance	2175	FANCA	OMIM:227650
HP:0000005	Mode of inheritance	4056	LTC4S	OMIM:614037
HP:0000005	Mode of inheritance	81575	APOLD1	OMIM:620715
HP:0000005	Mode of inheritance	79639	TMEM53	OMIM:619727
HP:0000005	Mode of inheritance	23562	CLDN14	OMIM:614035
HP:0000005	Mode of inheritance	84899	TMTC4	OMIM:620714
HP:0000005	Mode of inheritance	140803	TRPM6	OMIM:602014
HP:0000005	Mode of inheritance	84572	GNPTG	OMIM:252605
HP:0000005	Mode of inheritance	196527	ANO6	OMIM:262890
HP:0000005	Mode of inheritance	9364	RAB28	OMIM:615374
HP:0000005	Mode of inheritance	83871	RAB34	OMIM:620718
HP:0000005	Mode of inheritance	9692	PRORP	OMIM:619737
HP:0000005	Mode of inheritance	51319	RSRC1	OMIM:618402
HP:0000005	Mode of inheritance	7920	ABHD16A	OMIM:619735
HP:0000005	Mode of inheritance	8560	DEGS1	OMIM:618404
HP:0000005	Mode of inheritance	4323	MMP14	OMIM:277950
HP:0000005	Mode of inheritance	203286	ANKS6	OMIM:615382
HP:0000005	Mode of inheritance	54968	TMEM70	OMIM:614052
HP:0000005	Mode of inheritance	28755	TRAC	OMIM:615387
HP:0000005	Mode of inheritance	514	ATP5F1E	OMIM:614053
HP:0000005	Mode of inheritance	269	AMHR2	OMIM:261550
HP:0000005	Mode of inheritance	268	AMH	OMIM:261550
HP:0000005	Mode of inheritance	23166	STAB1	OMIM:620729
HP:0000005	Mode of inheritance	4632	MYL1	OMIM:618414
HP:0000005	Mode of inheritance	200734	SPRED2	OMIM:619745
HP:0000005	Mode of inheritance	23268	DNMBP	OMIM:618415
HP:0000005	Mode of inheritance	55361	PI4K2A	OMIM:620732
HP:0000005	Mode of inheritance	284439	SLC25A42	OMIM:618416
HP:0000005	Mode of inheritance	9529	BAG5	OMIM:619747
HP:0000005	Mode of inheritance	339983	NAT8L	OMIM:614063
HP:0000005	Mode of inheritance	23262	PPIP5K2	OMIM:618422
HP:0000005	Mode of inheritance	10717	AP4B1	OMIM:614066
HP:0000005	Mode of inheritance	11154	AP4S1	OMIM:614067
HP:0000005	Mode of inheritance	65080	MRPL44	OMIM:615395
HP:0000005	Mode of inheritance	199223	TTC21A	OMIM:618429
HP:0000005	Mode of inheritance	9841	ZBTB24	OMIM:614069
HP:0000005	Mode of inheritance	391356	PTRHD1	OMIM:620747
HP:0000005	Mode of inheritance	221481	ARMC12	OMIM:620744
HP:0000005	Mode of inheritance	4808	NHLH2	OMIM:619755
HP:0000005	Mode of inheritance	2592	GALT	OMIM:230400
HP:0000005	Mode of inheritance	6810	STX4	OMIM:620745
HP:0000005	Mode of inheritance	7701	ZNF142	OMIM:618425
HP:0000005	Mode of inheritance	285362	SUMF1	OMIM:272200
HP:0000005	Mode of inheritance	89781	HPS4	OMIM:614073
HP:0000005	Mode of inheritance	150365	MEI1	OMIM:618431
HP:0000005	Mode of inheritance	11234	HPS5	OMIM:614074
HP:0000005	Mode of inheritance	79703	TOP6BL	OMIM:618432
HP:0000005	Mode of inheritance	84071	ARMC2	OMIM:618433
HP:0000005	Mode of inheritance	84343	HPS3	OMIM:614072
HP:0000005	Mode of inheritance	388552	BLOC1S3	OMIM:614077
HP:0000005	Mode of inheritance	54928	BPNT2	OMIM:614078
HP:0000005	Mode of inheritance	51098	IFT52	OMIM:617102
HP:0000005	Mode of inheritance	79803	HPS6	OMIM:614075
HP:0000005	Mode of inheritance	84062	DTNBP1	OMIM:614076
HP:0000005	Mode of inheritance	9158	FIBP	OMIM:617107
HP:0000005	Mode of inheritance	25973	PARS2	OMIM:618437
HP:0000005	Mode of inheritance	11261	CHP1	OMIM:618438
HP:0000005	Mode of inheritance	540	ATP7B	OMIM:277900
HP:0000005	Mode of inheritance	2651	GCNT2	OMIM:116700
HP:0000005	Mode of inheritance	23556	PIGN	OMIM:614080
HP:0000005	Mode of inheritance	3978	LIG1	OMIM:619774
HP:0000005	Mode of inheritance	4123	MAN2C1	OMIM:619775
HP:0000005	Mode of inheritance	55120	FANCL	OMIM:614083
HP:0000005	Mode of inheritance	339855	KY	OMIM:617114
HP:0000005	Mode of inheritance	5286	PIK3C2A	OMIM:618440
HP:0000005	Mode of inheritance	5818	NECTIN1	OMIM:225060
HP:0000005	Mode of inheritance	5271	SERPINB8	OMIM:617115
HP:0000005	Mode of inheritance	85459	CEP295	OMIM:620767
HP:0000005	Mode of inheritance	246176	GAS2L2	OMIM:618449
HP:0000005	Mode of inheritance	344658	SAMD7	OMIM:620762
HP:0000005	Mode of inheritance	81704	DOCK8	OMIM:243700
HP:0000005	Mode of inheritance	26100	WIPI2	OMIM:618453
HP:0000005	Mode of inheritance	10750	GRAP	OMIM:618456
HP:0000005	Mode of inheritance	79882	ZC3H14	OMIM:617125
HP:0000005	Mode of inheritance	3980	LIG3	OMIM:619780
HP:0000005	Mode of inheritance	84695	LOXL3	OMIM:619781
HP:0000005	Mode of inheritance	847	CAT	OMIM:614097
HP:0000005	Mode of inheritance	3658	IREB2	OMIM:618451
HP:0000005	Mode of inheritance	221078	NSUN6	OMIM:620779
HP:0000005	Mode of inheritance	6878	TAF6	OMIM:617126
HP:0000005	Mode of inheritance	124976	SPNS2	OMIM:618457
HP:0000005	Mode of inheritance	826	CAPNS1	OMIM:620777
HP:0000005	Mode of inheritance	29127	RACGAP1	OMIM:619789
HP:0000005	Mode of inheritance	27145	FILIP1	OMIM:620775
HP:0000005	Mode of inheritance	9138	ARHGEF1	OMIM:618459
HP:0000005	Mode of inheritance	2582	GALE	OMIM:620776
HP:0000005	Mode of inheritance	2582	GALE	OMIM:230350
HP:0000005	Mode of inheritance	9900	SV2A	OMIM:620772
HP:0000005	Mode of inheritance	79876	UBA5	OMIM:617132
HP:0000005	Mode of inheritance	79876	UBA5	OMIM:617133
HP:0000005	Mode of inheritance	79879	CCDC134	OMIM:619795
HP:0000005	Mode of inheritance	8288	EPX	OMIM:261500
HP:0000005	Mode of inheritance	54892	NCAPG2	OMIM:618460
HP:0000005	Mode of inheritance	2048	EPHB2	OMIM:618462
HP:0000005	Mode of inheritance	11055	ZPBP	OMIM:619799
HP:0000005	Mode of inheritance	79903	NAA60	OMIM:620786
HP:0000005	Mode of inheritance	3875	KRT18	OMIM:215600
HP:0000005	Mode of inheritance	84320	ACBD6	OMIM:620785
HP:0000005	Mode of inheritance	10102	TSFM	OMIM:610505
HP:0000005	Mode of inheritance	9154	SLC28A1	OMIM:618477
HP:0000005	Mode of inheritance	4081	MAB21L1	OMIM:618479
HP:0000005	Mode of inheritance	81858	SHARPIN	OMIM:620795
HP:0000005	Mode of inheritance	10073	SNUPN	OMIM:620793
HP:0000005	Mode of inheritance	93035	PKHD1L1	OMIM:620794
HP:0000005	Mode of inheritance	161725	OTUD7A	OMIM:620790
HP:0000005	Mode of inheritance	1725	DHPS	OMIM:618480
HP:0000005	Mode of inheritance	124842	TMEM132E	OMIM:618481
HP:0000005	Mode of inheritance	2159	F10	OMIM:227600
HP:0000005	Mode of inheritance	4125	MAN2B1	OMIM:248500
HP:0000005	Mode of inheritance	54496	PRMT7	OMIM:617157
HP:0000005	Mode of inheritance	7019	TFAM	OMIM:617156
HP:0000005	Mode of inheritance	444	ASPH	OMIM:601552
HP:0000005	Mode of inheritance	3158	HMGCS2	OMIM:605911
HP:0000005	Mode of inheritance	1781	DYNC1I2	OMIM:618492
HP:0000005	Mode of inheritance	774	CACNA1B	OMIM:618497
HP:0000005	Mode of inheritance	285600	KIAA0825	OMIM:618498
HP:0000005	Mode of inheritance	3977	LIFR	OMIM:601559
HP:0000005	Mode of inheritance	54681	P4HTM	OMIM:618493
HP:0000005	Mode of inheritance	4126	MANBA	OMIM:248510
HP:0000005	Mode of inheritance	3560	IL2RB	OMIM:618495
HP:0000005	Mode of inheritance	84668	HYCC1	OMIM:610532
HP:0000005	Mode of inheritance	3077	HFE	OMIM:235200
HP:0000005	Mode of inheritance	2998	GYS2	OMIM:240600
HP:0000005	Mode of inheritance	55213	RCBTB1	OMIM:617175
HP:0000005	Mode of inheritance	65018	PINK1	OMIM:605909
HP:0000005	Mode of inheritance	6424	SFRP4	OMIM:265900
HP:0000005	Mode of inheritance	10681	GNB5	OMIM:617173
HP:0000005	Mode of inheritance	10681	GNB5	OMIM:617182
HP:0000005	Mode of inheritance	145173	B3GLCT	OMIM:261540
HP:0000005	Mode of inheritance	10653	SPINT2	OMIM:270420
HP:0000005	Mode of inheritance	140732	SUN5	OMIM:617187
HP:0000005	Mode of inheritance	128240	NAXE	OMIM:617186
HP:0000005	Mode of inheritance	3198	HOXA1	OMIM:601536
HP:0000005	Mode of inheritance	51715	RAB23	OMIM:201000
HP:0000005	Mode of inheritance	79143	MBOAT7	OMIM:617188
HP:0000005	Mode of inheritance	197	AHSG	OMIM:203650
HP:0000005	Mode of inheritance	226	ALDOA	OMIM:611881
HP:0000005	Mode of inheritance	81622	UNC93B1	OMIM:610551
HP:0000005	Mode of inheritance	8701	DNAH11	OMIM:611884
HP:0000005	Mode of inheritance	4222	MEOX1	OMIM:214300
HP:0000005	Mode of inheritance	342035	GLDN	OMIM:617194
HP:0000005	Mode of inheritance	6904	TBCD	OMIM:617193
HP:0000005	Mode of inheritance	2177	FANCD2	OMIM:227646
HP:0000005	Mode of inheritance	5345	SERPINF2	OMIM:262850
HP:0000005	Mode of inheritance	2176	FANCC	OMIM:227645
HP:0000005	Mode of inheritance	5236	PGM1	OMIM:614921
HP:0000005	Mode of inheritance	55005	RMND1	OMIM:614922
HP:0000005	Mode of inheritance	8799	PEX11B	OMIM:614920
HP:0000005	Mode of inheritance	3295	HSD17B4	OMIM:261515
HP:0000005	Mode of inheritance	3295	HSD17B4	OMIM:233400
HP:0000005	Mode of inheritance	23438	HARS2	OMIM:614926
HP:0000005	Mode of inheritance	10295	BCKDK	OMIM:614923
HP:0000005	Mode of inheritance	124454	EARS2	OMIM:614924
HP:0000005	Mode of inheritance	55074	OXR1	OMIM:213000
HP:0000005	Mode of inheritance	389434	IYD	OMIM:274800
HP:0000005	Mode of inheritance	3229	HOXC13	OMIM:614931
HP:0000005	Mode of inheritance	23639	DNAAF11	OMIM:614935
HP:0000005	Mode of inheritance	374407	DNAJB13	OMIM:617091
HP:0000005	Mode of inheritance	11113	CIT	OMIM:617090
HP:0000005	Mode of inheritance	10128	LRPPRC	OMIM:220111
HP:0000005	Mode of inheritance	3376	IARS1	OMIM:617093
HP:0000005	Mode of inheritance	83538	ODAD4	OMIM:617092
HP:0000005	Mode of inheritance	4574	MT-TS1	OMIM:220110
HP:0000005	Mode of inheritance	4570	MT-TN	OMIM:220110
HP:0000005	Mode of inheritance	7172	TPMT	OMIM:610460
HP:0000005	Mode of inheritance	8443	GNPAT	OMIM:222765
HP:0000005	Mode of inheritance	973	CD79A	OMIM:613501
HP:0000005	Mode of inheritance	25914	RTTN	OMIM:614833
HP:0000005	Mode of inheritance	3543	IGLL1	OMIM:613500
HP:0000005	Mode of inheritance	29760	BLNK	OMIM:613502
HP:0000005	Mode of inheritance	152816	ODAPH	OMIM:614832
HP:0000005	Mode of inheritance	93589	CACNA2D4	OMIM:610478
HP:0000005	Mode of inheritance	6866	TAC3	OMIM:614839
HP:0000005	Mode of inheritance	6870	TACR3	OMIM:614840
HP:0000005	Mode of inheritance	22897	CEP164	OMIM:614845
HP:0000005	Mode of inheritance	3814	KISS1	OMIM:614842
HP:0000005	Mode of inheritance	646960	PRSS56	OMIM:613517
HP:0000005	Mode of inheritance	8546	AP3B1	OMIM:608233
HP:0000005	Mode of inheritance	8802	SUCLG1	OMIM:245400
HP:0000005	Mode of inheritance	1717	DHCR7	OMIM:270400
HP:0000005	Mode of inheritance	132158	GLYCTK	OMIM:220120
HP:0000005	Mode of inheritance	51199	NIN	OMIM:614851
HP:0000005	Mode of inheritance	649	BMP1	OMIM:614856
HP:0000005	Mode of inheritance	51021	MRPS16	OMIM:610498
HP:0000005	Mode of inheritance	5826	ABCD4	OMIM:614857
HP:0000005	Mode of inheritance	1727	CYB5R3	OMIM:250800
HP:0000005	Mode of inheritance	116085	SLC22A12	OMIM:220150
HP:0000005	Mode of inheritance	197257	LDHD	OMIM:245450
HP:0000005	Mode of inheritance	7498	XDH	OMIM:278300
HP:0000005	Mode of inheritance	5828	PEX2	OMIM:614866
HP:0000005	Mode of inheritance	5828	PEX2	OMIM:614867
HP:0000005	Mode of inheritance	6789	STK4	OMIM:614868
HP:0000005	Mode of inheritance	55165	CEP55	OMIM:236500
HP:0000005	Mode of inheritance	64837	KLC2	OMIM:609541
HP:0000005	Mode of inheritance	78989	COLEC11	OMIM:265050
HP:0000005	Mode of inheritance	3208	HPCA	OMIM:224500
HP:0000005	Mode of inheritance	727	C5	OMIM:609536
HP:0000005	Mode of inheritance	5192	PEX10	OMIM:614870
HP:0000005	Mode of inheritance	5192	PEX10	OMIM:614871
HP:0000005	Mode of inheritance	55670	PEX26	OMIM:614873
HP:0000005	Mode of inheritance	55670	PEX26	OMIM:614872
HP:0000005	Mode of inheritance	54919	DNAAF5	OMIM:614874
HP:0000005	Mode of inheritance	9409	PEX16	OMIM:614877
HP:0000005	Mode of inheritance	9409	PEX16	OMIM:614876
HP:0000005	Mode of inheritance	7837	PXDN	OMIM:269400
HP:0000005	Mode of inheritance	9342	SNAP29	OMIM:609528
HP:0000005	Mode of inheritance	3300	DNAJB2	OMIM:614881
HP:0000005	Mode of inheritance	5194	PEX13	OMIM:614885
HP:0000005	Mode of inheritance	5194	PEX13	OMIM:614883
HP:0000005	Mode of inheritance	50628	GEMIN4	OMIM:617913
HP:0000005	Mode of inheritance	3460	IFNGR2	OMIM:614889
HP:0000005	Mode of inheritance	5824	PEX19	OMIM:614886
HP:0000005	Mode of inheritance	5195	PEX14	OMIM:614887
HP:0000005	Mode of inheritance	1384	CRAT	OMIM:617917
HP:0000005	Mode of inheritance	85021	REPS1	OMIM:617916
HP:0000005	Mode of inheritance	80067	DCAF17	OMIM:241080
HP:0000005	Mode of inheritance	3594	IL12RB1	OMIM:614891
HP:0000005	Mode of inheritance	51067	YARS2	OMIM:613561
HP:0000005	Mode of inheritance	3593	IL12B	OMIM:614890
HP:0000005	Mode of inheritance	10457	GPNMB	OMIM:617920
HP:0000005	Mode of inheritance	27152	INTU	OMIM:617925
HP:0000005	Mode of inheritance	27152	INTU	OMIM:617926
HP:0000005	Mode of inheritance	51475	CABP2	OMIM:614899
HP:0000005	Mode of inheritance	1261	CNGA3	OMIM:216900
HP:0000005	Mode of inheritance	137492	VPS37A	OMIM:614898
HP:0000005	Mode of inheritance	10695	CNPY3	OMIM:617929
HP:0000005	Mode of inheritance	55081	IFT57	OMIM:617927
HP:0000005	Mode of inheritance	7051	TGM1	OMIM:242300
HP:0000005	Mode of inheritance	81607	NECTIN4	OMIM:613573
HP:0000005	Mode of inheritance	590	BCHE	OMIM:617936
HP:0000005	Mode of inheritance	53616	ADAM22	OMIM:617933
HP:0000005	Mode of inheritance	79631	EFL1	OMIM:617941
HP:0000005	Mode of inheritance	51116	MRPS2	OMIM:617950
HP:0000005	Mode of inheritance	9512	PMPCB	OMIM:617954
HP:0000005	Mode of inheritance	6097	RORC	OMIM:616622
HP:0000005	Mode of inheritance	55603	TENT5A	OMIM:617952
HP:0000005	Mode of inheritance	2058	EPRS1	OMIM:617951
HP:0000005	Mode of inheritance	1063	CENPF	OMIM:243605
HP:0000005	Mode of inheritance	26146	TRAF3IP1	OMIM:616629
HP:0000005	Mode of inheritance	79846	CFAP69	OMIM:617959
HP:0000005	Mode of inheritance	9056	SLC7A7	OMIM:222700
HP:0000005	Mode of inheritance	1757	SARDH	OMIM:268900
HP:0000005	Mode of inheritance	80705	TSGA10	OMIM:617961
HP:0000005	Mode of inheritance	56154	TEX15	OMIM:617960
HP:0000005	Mode of inheritance	122481	AK7	OMIM:617965
HP:0000005	Mode of inheritance	175	AGA	OMIM:208400
HP:0000005	Mode of inheritance	5116	PCNT	OMIM:210720
HP:0000005	Mode of inheritance	27130	INVS	OMIM:602088
HP:0000005	Mode of inheritance	51128	SAR1B	OMIM:246700
HP:0000005	Mode of inheritance	2328	FMO3	OMIM:602079
HP:0000005	Mode of inheritance	401	PHOX2A	OMIM:602078
HP:0000005	Mode of inheritance	80270	HSD3B7	OMIM:607765
HP:0000005	Mode of inheritance	6505	SLC1A1	OMIM:222730
HP:0000005	Mode of inheritance	348938	NIPAL4	OMIM:612281
HP:0000005	Mode of inheritance	56978	PRDM8	OMIM:616640
HP:0000005	Mode of inheritance	6006	RHCE	OMIM:617970
HP:0000005	Mode of inheritance	2588	GALNS	OMIM:253000
HP:0000005	Mode of inheritance	56270	WDR45B	OMIM:617977
HP:0000005	Mode of inheritance	79783	SUGCT	OMIM:231690
HP:0000005	Mode of inheritance	200894	ARL13B	OMIM:612291
HP:0000005	Mode of inheritance	9918	NCAPD2	OMIM:617983
HP:0000005	Mode of inheritance	23397	NCAPH	OMIM:617985
HP:0000005	Mode of inheritance	23310	NCAPD3	OMIM:617984
HP:0000005	Mode of inheritance	6509	SLC1A4	OMIM:616657
HP:0000005	Mode of inheritance	54676	GTPBP2	OMIM:617988
HP:0000005	Mode of inheritance	100506658	OCLN	OMIM:251290
HP:0000005	Mode of inheritance	3284	HSD3B2	OMIM:201810
HP:0000005	Mode of inheritance	9365	KL	OMIM:617994
HP:0000005	Mode of inheritance	494551	WEE2	OMIM:617996
HP:0000005	Mode of inheritance	8815	BANF1	OMIM:614008
HP:0000005	Mode of inheritance	3455	IFNAR2	OMIM:616669
HP:0000005	Mode of inheritance	51294	PCDH12	OMIM:251280
HP:0000005	Mode of inheritance	1807	DPYS	OMIM:222748
HP:0000005	Mode of inheritance	2639	GCDH	OMIM:231670
HP:0000005	Mode of inheritance	79587	CARS2	OMIM:616672
HP:0000005	Mode of inheritance	85378	TUBGCP6	OMIM:251270
HP:0000005	Mode of inheritance	96459	FNIP1	OMIM:619705
HP:0000005	Mode of inheritance	55753	OGDHL	OMIM:619701
HP:0000005	Mode of inheritance	131377	KLHL40	OMIM:615348
HP:0000005	Mode of inheritance	83544	DNAL1	OMIM:614017
HP:0000005	Mode of inheritance	100128908	CIROP	OMIM:619702
HP:0000005	Mode of inheritance	2110	ETFDH	OMIM:231680
HP:0000005	Mode of inheritance	2108	ETFA	OMIM:231680
HP:0000005	Mode of inheritance	2109	ETFB	OMIM:231680
HP:0000005	Mode of inheritance	1121	CHM	OMIM:303100
HP:0000005	Mode of inheritance	6853	SYN1	OMIM:300115
HP:0000005	Mode of inheritance	9210	BMP15	OMIM:300510
HP:0000005	Mode of inheritance	331	XIAP	OMIM:300635
HP:0000005	Mode of inheritance	2316	FLNA	OMIM:314400
HP:0000005	Mode of inheritance	2316	FLNA	OMIM:300321
HP:0000005	Mode of inheritance	778	CACNA1F	OMIM:300071
HP:0000005	Mode of inheritance	778	CACNA1F	OMIM:300600
HP:0000005	Mode of inheritance	6658	SOX3	OMIM:300123
HP:0000005	Mode of inheritance	6658	SOX3	OMIM:312000
HP:0000005	Mode of inheritance	55869	HDAC8	OMIM:300882
HP:0000005	Mode of inheritance	57526	PCDH19	OMIM:300088
HP:0000005	Mode of inheritance	170302	ARX	OMIM:300004
HP:0000005	Mode of inheritance	170302	ARX	OMIM:300215
HP:0000005	Mode of inheritance	79868	ALG13	OMIM:300884
HP:0000005	Mode of inheritance	7552	ZNF711	OMIM:300803
HP:0000005	Mode of inheritance	3149	HMGB3	OMIM:300915
HP:0000005	Mode of inheritance	1287	COL4A5	OMIM:301050
HP:0000005	Mode of inheritance	1741	DLG3	OMIM:300850
HP:0000005	Mode of inheritance	54539	NDUFB11	OMIM:301021
HP:0000005	Mode of inheritance	10735	STAG2	OMIM:301022
HP:0000005	Mode of inheritance	54885	TBC1D8B	OMIM:301028
HP:0000005	Mode of inheritance	2664	GDI1	OMIM:300849
HP:0000005	Mode of inheritance	50945	TBX22	OMIM:302905
HP:0000005	Mode of inheritance	50945	TBX22	OMIM:303400
HP:0000005	Mode of inheritance	6102	RP2	OMIM:312600
HP:0000005	Mode of inheritance	90167	FRMD7	OMIM:310700
HP:0000005	Mode of inheritance	6907	TBL1X	OMIM:301033
HP:0000005	Mode of inheritance	27316	RBMX	OMIM:309555
HP:0000005	Mode of inheritance	4935	GPR143	OMIM:300500
HP:0000005	Mode of inheritance	633	BGN	OMIM:300989
HP:0000005	Mode of inheritance	4007	PRICKLE3	OMIM:308905
HP:0000005	Mode of inheritance	10149	ADGRG2	OMIM:300985
HP:0000005	Mode of inheritance	6103	RPGR	OMIM:304020
HP:0000005	Mode of inheritance	6103	RPGR	OMIM:300029
HP:0000005	Mode of inheritance	51114	ZDHHC9	OMIM:300799
HP:0000005	Mode of inheritance	54880	BCOR	OMIM:309800
HP:0000005	Mode of inheritance	8260	NAA10	OMIM:309800
HP:0000005	Mode of inheritance	22866	CNKSR2	OMIM:301008
HP:0000005	Mode of inheritance	8517	IKBKG	OMIM:301081
HP:0000005	Mode of inheritance	63932	STEEP1	OMIM:301013
HP:0000005	Mode of inheritance	26576	SRPK3	OMIM:301134
HP:0000005	Mode of inheritance	407	ARR3	OMIM:301010
HP:0000005	Mode of inheritance	6756	SSX1	OMIM:301099
HP:0000005	Mode of inheritance	7504	XK	OMIM:300842
HP:0000005	Mode of inheritance	2273	FHL1	OMIM:300718
HP:0000005	Mode of inheritance	2556	GABRA3	OMIM:301091
HP:0000005	Mode of inheritance	83844	USP26	OMIM:301101
HP:0000005	Mode of inheritance	4204	MECP2	OMIM:300496
HP:0000005	Mode of inheritance	1438	CSF2RA	OMIM:300770
HP:0000005	Mode of inheritance	190	NR0B1	OMIM:300018
HP:0000005	Mode of inheritance	54967	CT55	OMIM:301106
HP:0000005	Mode of inheritance	84631	SLITRK2	OMIM:301107
HP:0000005	Mode of inheritance	4810	NHS	OMIM:302200
HP:0000005	Mode of inheritance	51311	TLR8	OMIM:301078
HP:0000005	Mode of inheritance	9130	FAM50A	OMIM:300261
HP:0000005	Mode of inheritance	139886	SPIN4	OMIM:301114
HP:0000005	Mode of inheritance	2742	GLRA2	OMIM:301076
HP:0000005	Mode of inheritance	1756	DMD	OMIM:302045
HP:0000005	Mode of inheritance	93953	GCNA	OMIM:301077
HP:0000005	Mode of inheritance	1538	CYLC1	OMIM:301119
HP:0000005	Mode of inheritance	54413	NLGN3	OMIM:300425
HP:0000005	Mode of inheritance	83550	GPR101	OMIM:300943
HP:0000005	Mode of inheritance	8573	CASK	OMIM:300422
HP:0000005	Mode of inheritance	7543	ZFX	OMIM:301118
HP:0000005	Mode of inheritance	10075	HUWE1	OMIM:309590
HP:0000005	Mode of inheritance	3476	IGBP1	OMIM:300472
HP:0000005	Mode of inheritance	8243	SMC1A	OMIM:300590
HP:0000005	Mode of inheritance	8450	CUL4B	OMIM:300354
HP:0000005	Mode of inheritance	10134	BCAP31	OMIM:300475
HP:0000005	Mode of inheritance	9131	AIFM1	OMIM:300232
HP:0000005	Mode of inheritance	9131	AIFM1	OMIM:310490
HP:0000005	Mode of inheritance	9131	AIFM1	OMIM:300614
HP:0000005	Mode of inheritance	9131	AIFM1	OMIM:300816
HP:0000005	Mode of inheritance	6535	SLC6A8	OMIM:300352
HP:0000005	Mode of inheritance	10159	ATP6AP2	OMIM:300911
HP:0000005	Mode of inheritance	10159	ATP6AP2	OMIM:300423
HP:0000005	Mode of inheritance	10159	ATP6AP2	OMIM:301045
HP:0000005	Mode of inheritance	5009	OTC	OMIM:311250
HP:0000005	Mode of inheritance	4693	NDP	OMIM:310600
HP:0000005	Mode of inheritance	4693	NDP	OMIM:305390
HP:0000005	Mode of inheritance	1736	DKC1	OMIM:305000
HP:0000005	Mode of inheritance	538	ATP7A	OMIM:304150
HP:0000005	Mode of inheritance	538	ATP7A	OMIM:300489
HP:0000005	Mode of inheritance	538	ATP7A	OMIM:309400
HP:0000005	Mode of inheritance	1184	CLCN5	OMIM:308990
HP:0000005	Mode of inheritance	1184	CLCN5	OMIM:300009
HP:0000005	Mode of inheritance	1184	CLCN5	OMIM:300554
HP:0000005	Mode of inheritance	1184	CLCN5	OMIM:310468
HP:0000005	Mode of inheritance	2158	F9	OMIM:306900
HP:0000005	Mode of inheritance	2158	F9	OMIM:300807
HP:0000005	Mode of inheritance	4983	OPHN1	OMIM:300486
HP:0000005	Mode of inheritance	10479	SLC9A6	OMIM:300243
HP:0000005	Mode of inheritance	4281	MID1	OMIM:300000
HP:0000005	Mode of inheritance	65267	WNK3	OMIM:309610
HP:0000005	Mode of inheritance	24137	KIF4A	OMIM:300923
HP:0000005	Mode of inheritance	2623	GATA1	OMIM:300367
HP:0000005	Mode of inheritance	2623	GATA1	OMIM:314050
HP:0000005	Mode of inheritance	2623	GATA1	OMIM:301083
HP:0000005	Mode of inheritance	2623	GATA1	OMIM:300835
HP:0000005	Mode of inheritance	6855	SYP	OMIM:300802
HP:0000005	Mode of inheritance	51360	MBTPS2	OMIM:300918
HP:0000005	Mode of inheritance	51360	MBTPS2	OMIM:308800
HP:0000005	Mode of inheritance	51360	MBTPS2	OMIM:301014
HP:0000005	Mode of inheritance	51360	MBTPS2	OMIM:308205
HP:0000005	Mode of inheritance	8239	USP9X	OMIM:300919
HP:0000005	Mode of inheritance	1288	COL4A6	OMIM:300914
HP:0000005	Mode of inheritance	7102	TSPAN7	OMIM:300210
HP:0000005	Mode of inheritance	1896	EDA	OMIM:305100
HP:0000005	Mode of inheritance	2892	GRIA3	OMIM:300699
HP:0000005	Mode of inheritance	22	ABCB7	OMIM:301310
HP:0000005	Mode of inheritance	1678	TIMM8A	OMIM:304700
HP:0000005	Mode of inheritance	215	ABCD1	OMIM:300100
HP:0000005	Mode of inheritance	6399	TRAPPC2	OMIM:313400
HP:0000005	Mode of inheritance	8241	RBM10	OMIM:311900
HP:0000005	Mode of inheritance	30011	SH3KBP1	OMIM:300310
HP:0000005	Mode of inheritance	4952	OCRL	OMIM:300555
HP:0000005	Mode of inheritance	4952	OCRL	OMIM:309000
HP:0000005	Mode of inheritance	65109	UPF3B	OMIM:300676
HP:0000005	Mode of inheritance	5956	OPN1LW	OMIM:303700
HP:0000005	Mode of inheritance	5956	OPN1LW	OMIM:303900
HP:0000005	Mode of inheritance	2652	OPN1MW	OMIM:303700
HP:0000005	Mode of inheritance	2652	OPN1MW	OMIM:303800
HP:0000005	Mode of inheritance	5255	PHKA1	OMIM:300559
HP:0000005	Mode of inheritance	5063	PAK3	OMIM:300558
HP:0000005	Mode of inheritance	367	AR	OMIM:312300
HP:0000005	Mode of inheritance	367	AR	OMIM:300633
HP:0000005	Mode of inheritance	367	AR	OMIM:300068
HP:0000005	Mode of inheritance	367	AR	OMIM:313200
HP:0000005	Mode of inheritance	54440	SASH3	OMIM:301082
HP:0000005	Mode of inheritance	56159	TEX11	OMIM:309120
HP:0000005	Mode of inheritance	492	ATP2B3	OMIM:302500
HP:0000005	Mode of inheritance	3251	HPRT1	OMIM:300322
HP:0000005	Mode of inheritance	3251	HPRT1	OMIM:300323
HP:0000005	Mode of inheritance	7547	ZIC3	OMIM:314390
HP:0000005	Mode of inheritance	7547	ZIC3	OMIM:306955
HP:0000005	Mode of inheritance	2187	FANCB	OMIM:314390
HP:0000005	Mode of inheritance	2187	FANCB	OMIM:300514
HP:0000005	Mode of inheritance	8481	OFD1	OMIM:300209
HP:0000005	Mode of inheritance	8481	OFD1	OMIM:300424
HP:0000005	Mode of inheritance	8481	OFD1	OMIM:300804
HP:0000005	Mode of inheritance	554	AVPR2	OMIM:304800
HP:0000005	Mode of inheritance	554	AVPR2	OMIM:300539
HP:0000005	Mode of inheritance	6901	TAFAZZIN	OMIM:302060
HP:0000005	Mode of inheritance	9968	MED12	OMIM:305450
HP:0000005	Mode of inheritance	9968	MED12	OMIM:300895
HP:0000005	Mode of inheritance	9968	MED12	OMIM:309520
HP:0000005	Mode of inheritance	2258	FGF13	OMIM:301095
HP:0000005	Mode of inheritance	2258	FGF13	OMIM:301058
HP:0000005	Mode of inheritance	415	ARSL	OMIM:302950
HP:0000005	Mode of inheritance	5354	PLP1	OMIM:312080
HP:0000005	Mode of inheritance	5354	PLP1	OMIM:312920
HP:0000005	Mode of inheritance	8242	KDM5C	OMIM:300534
HP:0000005	Mode of inheritance	5230	PGK1	OMIM:300653
HP:0000005	Mode of inheritance	2717	GLA	OMIM:301500
HP:0000005	Mode of inheritance	3423	IDS	OMIM:309900
HP:0000005	Mode of inheritance	254065	BRWD3	OMIM:300659
HP:0000005	Mode of inheritance	546	ATRX	OMIM:309580
HP:0000005	Mode of inheritance	6611	SMS	OMIM:309583
HP:0000005	Mode of inheritance	81887	LAS1L	OMIM:309585
HP:0000005	Mode of inheritance	9075	CLDN2	OMIM:301060
HP:0000005	Mode of inheritance	2000	ELF4	OMIM:301074
HP:0000005	Mode of inheritance	3730	ANOS1	OMIM:308700
HP:0000005	Mode of inheritance	1536	CYBB	OMIM:306400
HP:0000005	Mode of inheritance	1536	CYBB	OMIM:300645
HP:0000005	Mode of inheritance	3897	L1CAM	OMIM:304100
HP:0000005	Mode of inheritance	3897	L1CAM	OMIM:303350
HP:0000005	Mode of inheritance	3897	L1CAM	OMIM:307000
HP:0000005	Mode of inheritance	23676	SMPX	OMIM:301075
HP:0000005	Mode of inheritance	5631	PRPS1	OMIM:300661
HP:0000005	Mode of inheritance	5631	PRPS1	OMIM:311070
HP:0000005	Mode of inheritance	5631	PRPS1	OMIM:301835
HP:0000005	Mode of inheritance	5631	PRPS1	OMIM:304500
HP:0000005	Mode of inheritance	6872	TAF1	OMIM:314250
HP:0000005	Mode of inheritance	6872	TAF1	OMIM:300966
HP:0000005	Mode of inheritance	8905	AP1S2	OMIM:304340
HP:0000005	Mode of inheritance	9949	AMMECR1	OMIM:300990
HP:0000005	Mode of inheritance	139212	DNAAF6	OMIM:300991
HP:0000005	Mode of inheritance	212	ALAS2	OMIM:300751
HP:0000005	Mode of inheritance	55217	TMLHE	OMIM:300872
HP:0000005	Mode of inheritance	2245	FGD1	OMIM:305400
HP:0000005	Mode of inheritance	695	BTK	OMIM:300755
HP:0000005	Mode of inheritance	695	BTK	OMIM:307200
HP:0000005	Mode of inheritance	6134	RPL10	OMIM:300998
HP:0000005	Mode of inheritance	10046	MAMLD1	OMIM:300758
HP:0000005	Mode of inheritance	5199	CFP	OMIM:312060
HP:0000005	Mode of inheritance	8473	OGT	OMIM:300997
HP:0000005	Mode of inheritance	3561	IL2RG	OMIM:312863
HP:0000005	Mode of inheritance	3561	IL2RG	OMIM:300400
HP:0000005	Mode of inheritance	50943	FOXP3	OMIM:304790
HP:0000005	Mode of inheritance	959	CD40LG	OMIM:308230
HP:0000005	Mode of inheritance	55593	OTUD5	OMIM:301056
HP:0000005	Mode of inheritance	286464	CFAP47	OMIM:301059
HP:0000005	Mode of inheritance	6567	SLC16A2	OMIM:300523
HP:0000005	Mode of inheritance	3547	IGSF1	OMIM:300888
HP:0000005	Mode of inheritance	51284	TLR7	OMIM:301051
HP:0000005	Mode of inheritance	4068	SH2D1A	OMIM:308240
HP:0000005	Mode of inheritance	2710	GK	OMIM:307030
HP:0000005	Mode of inheritance	84679	SLC9A7	OMIM:301024
HP:0000005	Mode of inheritance	90161	HS6ST2	OMIM:301025
HP:0000005	Mode of inheritance	10916	MAGED2	OMIM:300971
HP:0000005	Mode of inheritance	4694	NDUFA1	OMIM:301020
HP:0000005	Mode of inheritance	7454	WAS	OMIM:300299
HP:0000005	Mode of inheritance	7454	WAS	OMIM:301000
HP:0000005	Mode of inheritance	7454	WAS	OMIM:313900
HP:0000005	Mode of inheritance	84061	MAGT1	OMIM:300853
HP:0000005	Mode of inheritance	84061	MAGT1	OMIM:301031
HP:0000005	Mode of inheritance	51132	RLIM	OMIM:300978
HP:0000005	Mode of inheritance	2334	AFF2	OMIM:309548
HP:0000005	Mode of inheritance	537	ATP6AP1	OMIM:300972
HP:0000005	Mode of inheritance	55906	ZC4H2	OMIM:314580
HP:0000005	Mode of inheritance	4128	MAOA	OMIM:300615
HP:0000005	Mode of inheritance	24140	FTSJ1	OMIM:309549
HP:0000005	Mode of inheritance	63035	BCORL1	OMIM:301029
HP:0000005	Mode of inheritance	23229	ARHGEF9	OMIM:300607
HP:0000005	Mode of inheritance	3054	HCFC1	OMIM:309541
HP:0000005	Mode of inheritance	91851	CHRDL1	OMIM:309300
HP:0000005	Mode of inheritance	116442	RAB39B	OMIM:311510
HP:0000005	Mode of inheritance	116442	RAB39B	OMIM:300271
HP:0000005	Mode of inheritance	2010	EMD	OMIM:310300
HP:0000005	Mode of inheritance	8471	IRS4	OMIM:301035
HP:0000005	Mode of inheritance	80311	KLHL15	OMIM:300982
HP:0000005	Mode of inheritance	5422	POLA1	OMIM:301030
HP:0000005	Mode of inheritance	5422	POLA1	OMIM:301220
HP:0000005	Mode of inheritance	7319	UBE2A	OMIM:300860
HP:0000005	Mode of inheritance	4478	MSN	OMIM:300988
HP:0000005	Mode of inheritance	9758	FRMPD4	OMIM:300983
HP:0000005	Mode of inheritance	79576	NKAP	OMIM:301039
HP:0000005	Mode of inheritance	389856	USP27X	OMIM:300984
HP:0000005	Mode of inheritance	412	STS	OMIM:308100
HP:0000005	Mode of inheritance	50814	NSDHL	OMIM:300831
HP:0000005	Mode of inheritance	139411	PTCHD1	OMIM:300830
HP:0000005	Mode of inheritance	57187	THOC2	OMIM:300957
HP:0000005	Mode of inheritance	8270	LAGE3	OMIM:301006
HP:0000005	Mode of inheritance	6247	RS1	OMIM:312700
HP:0000005	Mode of inheritance	4534	MTM1	OMIM:310400
HP:0000005	Mode of inheritance	5456	POU3F4	OMIM:304400
HP:0000005	Mode of inheritance	286410	ATP11C	OMIM:301015
HP:0000005	Mode of inheritance	10682	EBP	OMIM:300960
HP:0000005	Mode of inheritance	2157	F8	OMIM:306700
HP:0000005	Mode of inheritance	4841	NONO	OMIM:300967
HP:0000005	Mode of inheritance	114928	GPRASP2	OMIM:301018
HP:0000005	Mode of inheritance	28952	CCDC22	OMIM:300963
HP:0000005	Mode of inheritance	1654	DDX3X	OMIM:300958
HP:0000005	Mode of inheritance	23096	IQSEC2	OMIM:309530
HP:0000005	Mode of inheritance	84295	PHF6	OMIM:301900
HP:0000005	Mode of inheritance	10084	PQBP1	OMIM:309500
HP:0000005	Mode of inheritance	139818	DOCK11	OMIM:301109
HP:0000005	Mode of inheritance	6748	SSR4	OMIM:300934
HP:0000005	Mode of inheritance	11043	MID2	OMIM:300928
HP:0000005	Mode of inheritance	60506	NYX	OMIM:310500
HP:0000005	Mode of inheritance	23133	PHF8	OMIM:300263
HP:0000005	Mode of inheritance	11141	IL1RAPL1	OMIM:300143
HP:0000005	Mode of inheritance	1968	EIF2S3	OMIM:300148
HP:0000005	Mode of inheritance	90121	TSR2	OMIM:300946
HP:0000005	Mode of inheritance	28985	MCTS1	OMIM:301115
HP:0000005	Mode of inheritance	1478	CSTF2	OMIM:301116
HP:0000005	Mode of inheritance	8823	FGF16	OMIM:309630
HP:0000005	Mode of inheritance	5256	PHKA2	OMIM:306000
HP:0000005	Mode of inheritance	265	AMELX	OMIM:301200
HP:0000005	Mode of inheritance	64840	PORCN	OMIM:305600
HP:0000005	Mode of inheritance	1947	EFNB1	OMIM:304110
HP:0000005	Mode of inheritance	6792	CDKL5	OMIM:300672
HP:0000005	Mode of inheritance	1730	DIAPH2	OMIM:300511
HP:0000005	Mode of inheritance	340533	NEXMIF	OMIM:300912
HP:0000005	Mode of inheritance	1183	CLCN4	OMIM:300114
HP:0000005	Mode of inheritance	1349	COX7B	OMIM:309801
HP:0000005	Mode of inheritance	1349	COX7B	OMIM:300887
HP:0000005	Mode of inheritance	3052	HCCS	OMIM:309801
HP:0000005	Mode of inheritance	3028	HSD17B10	OMIM:300438
HP:0000005	Mode of inheritance	7737	RNF113A	OMIM:300953
HP:0000005	Mode of inheritance	92002	CCNQ	OMIM:300707
HP:0000005	Mode of inheritance	2539	G6PD	OMIM:300908
HP:0000005	Mode of inheritance	5165	PDK3	OMIM:300905
HP:0000005	Mode of inheritance	5160	PDHA1	OMIM:312170
HP:0000005	Mode of inheritance	9338	TCEAL1	OMIM:301094
HP:0000005	Mode of inheritance	139285	AMER1	OMIM:300373
HP:0000005	Mode of inheritance	5251	PHEX	OMIM:307800
HP:0000005	Mode of inheritance	3920	LAMP2	OMIM:300257
HP:0000005	Mode of inheritance	29978	UBQLN2	OMIM:300857
HP:0000005	Mode of inheritance	9203	ZMYM3	OMIM:301111
HP:0000005	Mode of inheritance	2182	ACSL4	OMIM:300387
HP:0000005	Mode of inheritance	10943	MSL3	OMIM:301032
HP:0000005	Mode of inheritance	10013	HDAC6	OMIM:300863
HP:0000005	Mode of inheritance	3188	HNRNPH2	OMIM:300986
HP:0000005	Mode of inheritance	240	ALOX5	OMIM:600807
HP:0000005	Mode of inheritance	6356	CCL11	OMIM:600807
HP:0000005	Mode of inheritance	7124	TNF	OMIM:600807
HP:0000005	Mode of inheritance	3176	HNMT	OMIM:600807
HP:0000005	Mode of inheritance	4589	MUC7	OMIM:600807
HP:0000005	Mode of inheritance	117156	SCGB3A2	OMIM:600807
HP:0000005	Mode of inheritance	3135	HLA-G	OMIM:600807
HP:0000005	Mode of inheritance	3596	IL13	OMIM:600807
HP:0000005	Mode of inheritance	6331	SCN5A	OMIM:272120
HP:0000005	Mode of inheritance	672	BRCA1	OMIM:604370
HP:0000005	Mode of inheritance	114798	SLITRK1	OMIM:613229
HP:0000005	Mode of inheritance	2147	F2	OMIM:601367
HP:0000005	Mode of inheritance	4846	NOS3	OMIM:601367
HP:0000005	Mode of inheritance	4846	NOS3	OMIM:145500
HP:0000005	Mode of inheritance	5583	PRKCH	OMIM:601367
HP:0000005	Mode of inheritance	2153	F5	OMIM:601367
HP:0000005	Mode of inheritance	241	ALOX5AP	OMIM:601367
HP:0000005	Mode of inheritance	57502	NLGN4X	OMIM:300495
HP:0000005	Mode of inheritance	3107	HLA-C	OMIM:177900
HP:0000005	Mode of inheritance	5078	PAX4	OMIM:612227
HP:0000005	Mode of inheritance	3117	HLA-DQA1	OMIM:212750
HP:0000005	Mode of inheritance	3119	HLA-DQB1	OMIM:212750
HP:0000005	Mode of inheritance	3119	HLA-DQB1	OMIM:126200
HP:0000005	Mode of inheritance	2487	FRZB	OMIM:165720
HP:0000005	Mode of inheritance	3106	HLA-B	OMIM:106300
HP:0000005	Mode of inheritance	6638	SNRPN	OMIM:209850
HP:0000005	Mode of inheritance	64127	NOD2	OMIM:266600
HP:0000005	Mode of inheritance	64127	NOD2	OMIM:617321
HP:0000005	Mode of inheritance	3569	IL6	OMIM:266600
HP:0000005	Mode of inheritance	1280	COL2A1	OMIM:150600
HP:0000005	Mode of inheritance	50833	TAS2R16	OMIM:103780
HP:0000005	Mode of inheritance	125	ADH1B	OMIM:103780
HP:0000005	Mode of inheritance	126	ADH1C	OMIM:103780
HP:0000005	Mode of inheritance	2555	GABRA2	OMIM:103780
HP:0000005	Mode of inheritance	3123	HLA-DRB1	OMIM:126200
HP:0000005	Mode of inheritance	1889	ECE1	OMIM:145500
HP:0000005	Mode of inheritance	5740	PTGIS	OMIM:145500
HP:0000005	Mode of inheritance	1577	CYP3A5	OMIM:145500
HP:0000005	Mode of inheritance	2784	GNB3	OMIM:145500
HP:0000005	Mode of inheritance	481	ATP1B1	OMIM:145500
HP:0000005	Mode of inheritance	8490	RGS5	OMIM:145500
HP:0000005	Mode of inheritance	118	ADD1	OMIM:145500
HP:0000005	Mode of inheritance	185	AGTR1	OMIM:145500
HP:0000005	Mode of inheritance	4575	MT-TS2	OMIM:540000
HP:0000005	Mode of inheritance	4567	MT-TL1	OMIM:540000
HP:0000005	Mode of inheritance	4567	MT-TL1	OMIM:545000
HP:0000005	Mode of inheritance	4512	MT-CO1	OMIM:540000
HP:0000005	Mode of inheritance	4513	MT-CO2	OMIM:540000
HP:0000005	Mode of inheritance	4511	MT-TC	OMIM:540000
HP:0000005	Mode of inheritance	4572	MT-TQ	OMIM:540000
HP:0000005	Mode of inheritance	4577	MT-TV	OMIM:540000
HP:0000005	Mode of inheritance	4578	MT-TW	OMIM:540000
HP:0000005	Mode of inheritance	4558	MT-TF	OMIM:540000
HP:0000005	Mode of inheritance	4558	MT-TF	OMIM:545000
HP:0000005	Mode of inheritance	4566	MT-TK	OMIM:540000
HP:0000005	Mode of inheritance	4566	MT-TK	OMIM:545000
HP:0000005	Mode of inheritance	4565	MT-TI	OMIM:545000
HP:0000005	Mode of inheritance	4571	MT-TP	OMIM:545000
HP:0000005	Mode of inheritance	11281	POU6F2	OMIM:601583
HP:0000005	Mode of inheritance	699	BUB1	OMIM:114500
HP:0000005	Mode of inheritance	25788	RAD54B	OMIM:114500
HP:0000005	Mode of inheritance	5795	PTPRJ	OMIM:114500
HP:0000005	Mode of inheritance	5157	PDGFRL	OMIM:114500
HP:0000005	Mode of inheritance	5157	PDGFRL	OMIM:114550
HP:0000005	Mode of inheritance	1630	DCC	OMIM:114500
HP:0000005	Mode of inheritance	1630	DCC	OMIM:133239
HP:0000005	Mode of inheritance	673	BRAF	OMIM:114500
HP:0000005	Mode of inheritance	673	BRAF	OMIM:211980
HP:0000005	Mode of inheritance	10395	DLC1	OMIM:114500
HP:0000005	Mode of inheritance	8313	AXIN2	OMIM:114500
HP:0000005	Mode of inheritance	4163	MCC	OMIM:114500
HP:0000005	Mode of inheritance	595	CCND1	OMIM:114500
HP:0000005	Mode of inheritance	595	CCND1	OMIM:254500
HP:0000005	Mode of inheritance	7097	TLR2	OMIM:114500
HP:0000005	Mode of inheritance	6714	SRC	OMIM:114500
HP:0000005	Mode of inheritance	27030	MLH3	OMIM:114500
HP:0000005	Mode of inheritance	27030	MLH3	OMIM:608089
HP:0000005	Mode of inheritance	5320	PLA2G2A	OMIM:114500
HP:0000005	Mode of inheritance	1499	CTNNB1	OMIM:114500
HP:0000005	Mode of inheritance	1499	CTNNB1	OMIM:114550
HP:0000005	Mode of inheritance	1499	CTNNB1	OMIM:155255
HP:0000005	Mode of inheritance	1499	CTNNB1	OMIM:167000
HP:0000005	Mode of inheritance	1499	CTNNB1	OMIM:132600
HP:0000005	Mode of inheritance	6790	AURKA	OMIM:114500
HP:0000005	Mode of inheritance	324	APC	OMIM:114500
HP:0000005	Mode of inheritance	324	APC	OMIM:114550
HP:0000005	Mode of inheritance	324	APC	OMIM:613659
HP:0000005	Mode of inheritance	701	BUB1B	OMIM:114500
HP:0000005	Mode of inheritance	5782	PTPN12	OMIM:114500
HP:0000005	Mode of inheritance	26511	CHIC2	OMIM:601626
HP:0000005	Mode of inheritance	4026	LPP	OMIM:601626
HP:0000005	Mode of inheritance	2624	GATA2	OMIM:601626
HP:0000005	Mode of inheritance	2624	GATA2	OMIM:614286
HP:0000005	Mode of inheritance	8301	PICALM	OMIM:601626
HP:0000005	Mode of inheritance	1788	DNMT3A	OMIM:601626
HP:0000005	Mode of inheritance	7015	TERT	OMIM:601626
HP:0000005	Mode of inheritance	8028	MLLT10	OMIM:601626
HP:0000005	Mode of inheritance	861	RUNX1	OMIM:601626
HP:0000005	Mode of inheritance	1050	CEBPA	OMIM:601626
HP:0000005	Mode of inheritance	2120	ETV6	OMIM:601626
HP:0000005	Mode of inheritance	6455	SH3GL1	OMIM:601626
HP:0000005	Mode of inheritance	4869	NPM1	OMIM:601626
HP:0000005	Mode of inheritance	51008	ASCC1	OMIM:614266
HP:0000005	Mode of inheritance	115908	CTHRC1	OMIM:614266
HP:0000005	Mode of inheritance	4481	MSR1	OMIM:614266
HP:0000005	Mode of inheritance	7317	UBA1	OMIM:301054
HP:0000005	Mode of inheritance	4352	MPL	OMIM:601977
HP:0000005	Mode of inheritance	4352	MPL	OMIM:254450
HP:0000005	Mode of inheritance	6598	SMARCB1	OMIM:162091
HP:0000005	Mode of inheritance	91754	NEK9	OMIM:617025
HP:0000005	Mode of inheritance	5914	RARA	OMIM:612376
HP:0000005	Mode of inheritance	999	CDH1	OMIM:608089
HP:0000005	Mode of inheritance	999	CDH1	OMIM:167000
HP:0000005	Mode of inheritance	999	CDH1	OMIM:114480
HP:0000005	Mode of inheritance	2956	MSH6	OMIM:608089
HP:0000005	Mode of inheritance	4437	MSH3	OMIM:608089
HP:0000005	Mode of inheritance	7030	TFE3	OMIM:300854
HP:0000005	Mode of inheritance	463	ZFHX3	OMIM:176807
HP:0000005	Mode of inheritance	4601	MXI1	OMIM:176807
HP:0000005	Mode of inheritance	8379	MAD1L1	OMIM:176807
HP:0000005	Mode of inheritance	11200	CHEK2	OMIM:176807
HP:0000005	Mode of inheritance	11200	CHEK2	OMIM:259500
HP:0000005	Mode of inheritance	5728	PTEN	OMIM:176807
HP:0000005	Mode of inheritance	675	BRCA2	OMIM:176807
HP:0000005	Mode of inheritance	675	BRCA2	OMIM:194070
HP:0000005	Mode of inheritance	675	BRCA2	OMIM:155255
HP:0000005	Mode of inheritance	675	BRCA2	OMIM:114480
HP:0000005	Mode of inheritance	1316	KLF6	OMIM:176807
HP:0000005	Mode of inheritance	1316	KLF6	OMIM:613659
HP:0000005	Mode of inheritance	91	ACVR1B	OMIM:260350
HP:0000005	Mode of inheritance	4089	SMAD4	OMIM:260350
HP:0000005	Mode of inheritance	171023	ASXL1	OMIM:614286
HP:0000005	Mode of inheritance	23451	SF3B1	OMIM:614286
HP:0000005	Mode of inheritance	54790	TET2	OMIM:614286
HP:0000005	Mode of inheritance	2064	ERBB2	OMIM:137800
HP:0000005	Mode of inheritance	2064	ERBB2	OMIM:167000
HP:0000005	Mode of inheritance	2064	ERBB2	OMIM:613659
HP:0000005	Mode of inheritance	2064	ERBB2	OMIM:211980
HP:0000005	Mode of inheritance	3417	IDH1	OMIM:137800
HP:0000005	Mode of inheritance	57522	SRGAP1	OMIM:188470
HP:0000005	Mode of inheritance	9562	MINPP1	OMIM:188470
HP:0000005	Mode of inheritance	7490	WT1	OMIM:194080
HP:0000005	Mode of inheritance	7490	WT1	OMIM:136680
HP:0000005	Mode of inheritance	7490	WT1	OMIM:194072
HP:0000005	Mode of inheritance	7490	WT1	OMIM:194070
HP:0000005	Mode of inheritance	7490	WT1	OMIM:156240
HP:0000005	Mode of inheritance	4763	NF1	OMIM:607785
HP:0000005	Mode of inheritance	867	CBL	OMIM:607785
HP:0000005	Mode of inheritance	5781	PTPN11	OMIM:607785
HP:0000005	Mode of inheritance	23092	ARHGAP26	OMIM:607785
HP:0000005	Mode of inheritance	25	ABL1	OMIM:608232
HP:0000005	Mode of inheritance	2771	GNAI2	OMIM:192605
HP:0000005	Mode of inheritance	2308	FOXO1	OMIM:268220
HP:0000005	Mode of inheritance	5077	PAX3	OMIM:268220
HP:0000005	Mode of inheritance	5081	PAX7	OMIM:268220
HP:0000005	Mode of inheritance	29071	C1GALT1C1	OMIM:300622
HP:0000005	Mode of inheritance	4233	MET	OMIM:114550
HP:0000005	Mode of inheritance	4233	MET	OMIM:605074
HP:0000005	Mode of inheritance	8312	AXIN1	OMIM:114550
HP:0000005	Mode of inheritance	3482	IGF2R	OMIM:114550
HP:0000005	Mode of inheritance	841	CASP8	OMIM:114550
HP:0000005	Mode of inheritance	841	CASP8	OMIM:114480
HP:0000005	Mode of inheritance	841	CASP8	OMIM:211980
HP:0000005	Mode of inheritance	4615	MYD88	OMIM:153600
HP:0000005	Mode of inheritance	5080	PAX6	OMIM:194072
HP:0000005	Mode of inheritance	3981	LIG4	OMIM:254500
HP:0000005	Mode of inheritance	5546	PRCC	OMIM:605074
HP:0000005	Mode of inheritance	2719	GPC3	OMIM:194070
HP:0000005	Mode of inheritance	2239	GPC4	OMIM:194070
HP:0000005	Mode of inheritance	283120	H19	OMIM:194070
HP:0000005	Mode of inheritance	1385	CREB1	OMIM:612160
HP:0000005	Mode of inheritance	23432	GPR161	OMIM:155255
HP:0000005	Mode of inheritance	51684	SUFU	OMIM:155255
HP:0000005	Mode of inheritance	8518	ELP1	OMIM:155255
HP:0000005	Mode of inheritance	8643	PTCH2	OMIM:155255
HP:0000005	Mode of inheritance	6608	SMO	OMIM:601707
HP:0000005	Mode of inheritance	3572	IL6ST	OMIM:619750
HP:0000005	Mode of inheritance	10019	SH2B3	OMIM:254450
HP:0000005	Mode of inheritance	811	CALR	OMIM:254450
HP:0000005	Mode of inheritance	51604	PIGT	OMIM:615399
HP:0000005	Mode of inheritance	4978	OPCML	OMIM:167000
HP:0000005	Mode of inheritance	5071	PRKN	OMIM:167000
HP:0000005	Mode of inheritance	5071	PRKN	OMIM:211980
HP:0000005	Mode of inheritance	79798	ARMC5	OMIM:615954
HP:0000005	Mode of inheritance	3553	IL1B	OMIM:613659
HP:0000005	Mode of inheritance	3557	IL1RN	OMIM:613659
HP:0000005	Mode of inheritance	843	CASP10	OMIM:613659
HP:0000005	Mode of inheritance	3659	IRF1	OMIM:613659
HP:0000005	Mode of inheritance	3659	IRF1	OMIM:211980
HP:0000005	Mode of inheritance	2263	FGFR2	OMIM:613659
HP:0000005	Mode of inheritance	4595	MUTYH	OMIM:613659
HP:0000005	Mode of inheritance	9049	AIP	OMIM:102200
HP:0000005	Mode of inheritance	5324	PLAG1	OMIM:181030
HP:0000005	Mode of inheritance	23405	DICER1	OMIM:618272
HP:0000005	Mode of inheritance	6049	RNF6	OMIM:133239
HP:0000005	Mode of inheritance	7048	TGFBR2	OMIM:133239
HP:0000005	Mode of inheritance	11178	LZTS1	OMIM:133239
HP:0000005	Mode of inheritance	51741	WWOX	OMIM:133239
HP:0000005	Mode of inheritance	2130	EWSR1	OMIM:612219
HP:0000005	Mode of inheritance	60	ACTB	OMIM:620470
HP:0000005	Mode of inheritance	9759	HDAC4	OMIM:600430
HP:0000005	Mode of inheritance	7355	SLC35A2	OMIM:300896
HP:0000005	Mode of inheritance	6757	SSX2	OMIM:300813
HP:0000005	Mode of inheritance	100	ADA	OMIM:102700
HP:0000005	Mode of inheritance	387	RHOA	OMIM:618727
HP:0000005	Mode of inheritance	5002	SLC22A18	OMIM:114480
HP:0000005	Mode of inheritance	5002	SLC22A18	OMIM:211980
HP:0000005	Mode of inheritance	83990	BRIP1	OMIM:114480
HP:0000005	Mode of inheritance	4835	NQO2	OMIM:114480
HP:0000005	Mode of inheritance	5245	PHB1	OMIM:114480
HP:0000005	Mode of inheritance	3161	HMMR	OMIM:114480
HP:0000005	Mode of inheritance	580	BARD1	OMIM:114480
HP:0000005	Mode of inheritance	8493	PPM1D	OMIM:114480
HP:0000005	Mode of inheritance	9821	RB1CC1	OMIM:114480
HP:0000005	Mode of inheritance	472	ATM	OMIM:114480
HP:0000005	Mode of inheritance	2099	ESR1	OMIM:114480
HP:0000005	Mode of inheritance	7517	XRCC3	OMIM:114480
HP:0000005	Mode of inheritance	5888	RAD51	OMIM:114480
HP:0000005	Mode of inheritance	8438	RAD54L	OMIM:114480
HP:0000005	Mode of inheritance	2131	EXT1	OMIM:215300
HP:0000005	Mode of inheritance	1956	EGFR	OMIM:211980
HP:0000005	Mode of inheritance	5519	PPP2R1B	OMIM:211980
HP:0000005	Mode of inheritance	2074	ERCC6	OMIM:211980
HP:0000005	Mode of inheritance	1326	MAP3K8	OMIM:211980
HP:0000005	Mode of inheritance	1548	CYP2A6	OMIM:211980
HP:0000005	Mode of inheritance	356	FASLG	OMIM:211980
HP:0000005	Mode of inheritance	5277	PIGA	OMIM:300818
HP:0000005	Mode of inheritance	8013	NR4A3	OMIM:612237
HP:0000005	Mode of inheritance	8148	TAF15	OMIM:612237
HP:0000005	Mode of inheritance	79058	ASPSCR1	OMIM:606243
HP:0000005	Mode of inheritance	79577	CDC73	OMIM:608266
HP:0000005	Mode of inheritance	9082	XKRY	OMIM:415000
HP:0000005	Mode of inheritance	9084	VCY	OMIM:415000
HP:0000005	Mode of inheritance	8287	USP9Y	OMIM:415000
HP:0000005	Mode of inheritance	5940	RBMY1A1	OMIM:415000
HP:0000005	Mode of inheritance	8653	DDX3Y	OMIM:415000
HP:0000005	Mode of inheritance	86614	HSFY1	OMIM:415000
HP:0000005	Mode of inheritance	9426	CDY2A	OMIM:415000
HP:0000005	Mode of inheritance	9085	CDY1	OMIM:415000
HP:0000005	Mode of inheritance	1617	DAZ1	OMIM:415000
HP:0000005	Mode of inheritance	442862	PRY2	OMIM:415000
HP:0000005	Mode of inheritance	9081	PRY	OMIM:415000
HP:0000005	Mode of inheritance	9083	BPY2	OMIM:415000
HP:0000005	Mode of inheritance	57054	DAZ3	OMIM:415000
HP:0000005	Mode of inheritance	140032	RPS4Y2	OMIM:415000
HP:0000005	Mode of inheritance	8284	KDM5D	OMIM:415000
HP:0000005	Mode of inheritance	57055	DAZ2	OMIM:415000
HP:0000005	Mode of inheritance	6736	SRY	OMIM:400044
HP:0000005	Mode of inheritance	90665	TBL1Y	OMIM:400047
HP:0000005	Mode of inheritance	284058	KANSL1	OMIM:610443
HP:0000005	Mode of inheritance	344018	FIGLA	OMIM:612310
HP:0000005	Mode of inheritance	3973	LHCGR	OMIM:176410
HP:0000005	Mode of inheritance	2516	NR5A1	OMIM:612964
HP:0000005	Mode of inheritance	2516	NR5A1	OMIM:612965
HP:0000005	Mode of inheritance	773	CACNA1A	OMIM:183086
HP:0000005	Mode of inheritance	1822	ATN1	OMIM:125370
HP:0000005	Mode of inheritance	6683	SPAST	OMIM:182601
HP:0000005	Mode of inheritance	25814	ATXN10	OMIM:603516
HP:0000005	Mode of inheritance	5290	PIK3CA	OMIM:612918
HP:0000005	Mode of inheritance	5290	PIK3CA	OMIM:602501
HP:0000005	Mode of inheritance	2776	GNAQ	OMIM:185300
HP:0000005	Mode of inheritance	26277	TINF2	OMIM:268130
HP:0000005	Mode of inheritance	6208	RPS14	OMIM:153550
HP:0000005	Mode of inheritance	2290	FOXG1	OMIM:613454
HP:0000005	Mode of inheritance	2778	GNAS	OMIM:219080
HP:0000005	Mode of inheritance	2778	GNAS	OMIM:603233
HP:0000005	Mode of inheritance	5156	PDGFRA	OMIM:607685
HP:0000005	Mode of inheritance	4774	NFIA	OMIM:613735
HP:0000005	Mode of inheritance	85358	SHANK3	OMIM:606232
HP:0000005	Mode of inheritance	27235	COQ2	OMIM:146500
HP:0000005	Mode of inheritance	23384	SPECC1L	OMIM:600251
HP:0000005	Mode of inheritance	100033413	SNORD116-1	OMIM:176270
HP:0000005	Mode of inheritance	8924	HERC2	OMIM:176270
HP:0000005	Mode of inheritance	23742	NPAP1	OMIM:176270
HP:0000005	Mode of inheritance	338433	SNORD115-1	OMIM:176270
HP:0000005	Mode of inheritance	54551	MAGEL2	OMIM:176270
HP:0000005	Mode of inheritance	7681	MKRN3	OMIM:176270
HP:0000005	Mode of inheritance	145624	PWAR1	OMIM:176270
HP:0000005	Mode of inheritance	3653	IPW	OMIM:176270
HP:0000005	Mode of inheritance	791114	PWRN1	OMIM:176270
HP:0000005	Mode of inheritance	149775	GNAS-AS1	OMIM:603233
HP:0000005	Mode of inheritance	8675	STX16	OMIM:603233
HP:0000005	Mode of inheritance	23095	KIF1B	OMIM:256700
HP:0000005	Mode of inheritance	5048	PAFAH1B1	OMIM:607432
HP:0000005	Mode of inheritance	6197	RPS6KA3	OMIM:303600
HP:0000005	Mode of inheritance	51816	ADA2	OMIM:182410
HP:0000005	Mode of inheritance	4784	NFIX	OMIM:602535
HP:0000005	Mode of inheritance	201163	FLCN	OMIM:610883
HP:0000005	Mode of inheritance	201163	FLCN	OMIM:144700
HP:0000005	Mode of inheritance	3481	IGF2	OMIM:180860
HP:0000005	Mode of inheritance	2317	FLNB	OMIM:108720
HP:0000005	Mode of inheritance	39	ACAT2	OMIM:614055
HP:0000005	Mode of inheritance	7253	TSHR	OMIM:609152
HP:0000005	Mode of inheritance	2260	FGFR1	OMIM:613001
HP:0000005	Mode of inheritance	79813	EHMT1	OMIM:610253
HP:0000005	Mode of inheritance	55636	CHD7	OMIM:214800
HP:0000005	Mode of inheritance	25942	SIN3A	OMIM:613406
HP:0000005	Mode of inheritance	10382	TUBB4A	OMIM:612438
HP:0000005	Mode of inheritance	7468	NSD2	OMIM:194190
HP:0000005	Mode of inheritance	10815	CPLX1	OMIM:194190
HP:0000005	Mode of inheritance	1487	CTBP1	OMIM:194190
HP:0000005	Mode of inheritance	53834	FGFRL1	OMIM:194190
HP:0000005	Mode of inheritance	3954	LETM1	OMIM:194190
HP:0000005	Mode of inheritance	3664	IRF6	OMIM:608864
HP:0000005	Mode of inheritance	3265	HRAS	OMIM:218040
HP:0000005	Mode of inheritance	3265	HRAS	OMIM:163200
HP:0000005	Mode of inheritance	9791	PTDSS1	OMIM:151050
HP:0000005	Mode of inheritance	1816	DRD5	OMIM:606798
HP:0000005	Mode of inheritance	4609	MYC	OMIM:113970
HP:0000005	Mode of inheritance	5663	PSEN1	OMIM:172700
HP:0000005	Mode of inheritance	4137	MAPT	OMIM:172700
HP:0000005	Mode of inheritance	4137	MAPT	OMIM:168600
HP:0000005	Mode of inheritance	2033	EP300	OMIM:180849
HP:0000005	Mode of inheritance	2033	EP300	OMIM:613684
HP:0000005	Mode of inheritance	1387	CREBBP	OMIM:180849
HP:0000005	Mode of inheritance	50937	CDON	OMIM:614226
HP:0000005	Mode of inheritance	5925	RB1	OMIM:180200
HP:0000005	Mode of inheritance	7337	UBE3A	OMIM:105830
HP:0000005	Mode of inheritance	4893	NRAS	OMIM:163200
HP:0000005	Mode of inheritance	4893	NRAS	OMIM:249400
HP:0000005	Mode of inheritance	3845	KRAS	OMIM:163200
HP:0000005	Mode of inheritance	2736	GLI2	OMIM:610829
HP:0000005	Mode of inheritance	26137	ZBTB20	OMIM:259050
HP:0000005	Mode of inheritance	779	CACNA1S	OMIM:188580
HP:0000005	Mode of inheritance	207	AKT1	OMIM:176920
HP:0000005	Mode of inheritance	5832	ALDH18A1	OMIM:219150
HP:0000005	Mode of inheritance	7341	SUMO1	OMIM:613705
HP:0000005	Mode of inheritance	8915	BCL10	OMIM:273300
HP:0000005	Mode of inheritance	2261	FGFR3	OMIM:273300
HP:0000005	Mode of inheritance	3815	KIT	OMIM:273300
HP:0000005	Mode of inheritance	3815	KIT	OMIM:606764
HP:0000005	Mode of inheritance	6794	STK11	OMIM:273300
HP:0000005	Mode of inheritance	6497	SKI	OMIM:182212
HP:0000005	Mode of inheritance	5604	MAP2K1	OMIM:155950
HP:0000005	Mode of inheritance	10743	RAI1	OMIM:182290
HP:0000005	Mode of inheritance	3717	JAK2	OMIM:263300
HP:0000005	Mode of inheritance	25836	NIPBL	OMIM:122470
HP:0000005	Mode of inheritance	55193	PBRM1	OMIM:144700
HP:0000005	Mode of inheritance	6927	HNF1A	OMIM:144700
HP:0000005	Mode of inheritance	7428	VHL	OMIM:144700
HP:0000005	Mode of inheritance	4968	OGG1	OMIM:144700
HP:0000005	Mode of inheritance	11236	RNF139	OMIM:144700
HP:0000005	Mode of inheritance	6928	HNF1B	OMIM:144700
HP:0000005	Mode of inheritance	6496	SIX3	OMIM:157170
HP:0000005	Mode of inheritance	2475	MTOR	OMIM:607341
HP:0000005	Mode of inheritance	7248	TSC1	OMIM:607341
HP:0000005	Mode of inheritance	7249	TSC2	OMIM:607341
HP:0000005	Mode of inheritance	257	ALX3	OMIM:136760
HP:0000005	Mode of inheritance	6390	SDHB	OMIM:606764
HP:0000005	Mode of inheritance	6391	SDHC	OMIM:606764
HP:0000005	Mode of inheritance	84823	LMNB2	OMIM:608709
HP:0000005	Mode of inheritance	2703	GJA8	OMIM:612474
HP:0000005	Mode of inheritance	2702	GJA5	OMIM:612474
HP:0000005	Mode of inheritance	4208	MEF2C	OMIM:613443
HP:0000005	Mode of inheritance	4287	ATXN3	OMIM:168600
HP:0000005	Mode of inheritance	2629	GBA1	OMIM:168600
HP:0000005	Mode of inheritance	4576	MT-TT	OMIM:168600
HP:0000005	Mode of inheritance	9627	SNCAIP	OMIM:168600
HP:0000005	Mode of inheritance	6908	TBP	OMIM:168600
HP:0000005	Mode of inheritance	4929	NR4A2	OMIM:168600
HP:0000005	Mode of inheritance	6311	ATXN2	OMIM:168600
HP:0000005	Mode of inheritance	6315	ATXN8OS	OMIM:168600
HP:0000005	Mode of inheritance	26121	PRPF31	OMIM:600138
HP:0000005	Mode of inheritance	57468	SLC12A5	OMIM:616685
HP:0000005	Mode of inheritance	2138	EYA1	OMIM:113650
HP:0000005	Mode of inheritance	2138	EYA1	OMIM:602588
HP:0000005	Mode of inheritance	6495	SIX1	OMIM:113650
HP:0000005	Mode of inheritance	128674	PROKR2	OMIM:244200
HP:0000005	Mode of inheritance	51621	KLF13	OMIM:612001
HP:0000005	Mode of inheritance	1139	CHRNA7	OMIM:612001
HP:0000005	Mode of inheritance	59341	TRPV4	OMIM:606071
HP:0000005	Mode of inheritance	59341	TRPV4	OMIM:600175
HP:0000005	Mode of inheritance	59341	TRPV4	OMIM:181405
HP:0000005	Mode of inheritance	9698	PUM1	OMIM:617931
HP:0000005	Mode of inheritance	6513	SLC2A1	OMIM:612126
HP:0000005	Mode of inheritance	6513	SLC2A1	OMIM:614847
HP:0000005	Mode of inheritance	785	CACNB4	OMIM:613855
HP:0000005	Mode of inheritance	203547	VMA21	OMIM:310440
HP:0000005	Mode of inheritance	2566	GABRG2	OMIM:607681
HP:0000005	Mode of inheritance	478	ATP1A3	OMIM:128235
HP:0000005	Mode of inheritance	60675	PROK2	OMIM:610628
HP:0000005	Mode of inheritance	1743	DLST	OMIM:618475
HP:0000005	Mode of inheritance	6096	RORB	OMIM:618357
HP:0000005	Mode of inheritance	2050	EPHB4	OMIM:618196
HP:0000005	Mode of inheritance	55765	INAVA	OMIM:618077
HP:0000005	Mode of inheritance	64072	CDH23	OMIM:617540
HP:0000005	Mode of inheritance	1135	CHRNA2	OMIM:610353
HP:0000005	Mode of inheritance	26011	TENM4	OMIM:616736
HP:0000005	Mode of inheritance	90678	LRSAM1	OMIM:614436
HP:0000005	Mode of inheritance	55997	CFC1	OMIM:605376
HP:0000005	Mode of inheritance	78987	CRELD1	OMIM:606217
HP:0000005	Mode of inheritance	7480	WNT10B	OMIM:225300
HP:0000005	Mode of inheritance	889	KRIT1	OMIM:116860
HP:0000005	Mode of inheritance	1137	CHRNA4	OMIM:600513
HP:0000005	Mode of inheritance	348980	HCN1	OMIM:618482
HP:0000005	Mode of inheritance	1493	CTLA4	OMIM:616100
HP:0000005	Mode of inheritance	4901	NRL	OMIM:613750
HP:0000005	Mode of inheritance	2562	GABRB3	OMIM:612269
HP:0000005	Mode of inheritance	5582	PRKCG	OMIM:605361
HP:0000005	Mode of inheritance	25778	DSTYK	OMIM:610805
HP:0000005	Mode of inheritance	1181	CLCN2	OMIM:605635
HP:0000005	Mode of inheritance	6469	SHH	OMIM:142945
HP:0000005	Mode of inheritance	6469	SHH	OMIM:611638
HP:0000005	Mode of inheritance	1641	DCX	OMIM:300067
HP:0000005	Mode of inheritance	57165	GJC2	OMIM:613480
HP:0000005	Mode of inheritance	7046	TGFBR1	OMIM:132800
HP:0000005	Mode of inheritance	9757	KMT2B	OMIM:617284
HP:0000005	Mode of inheritance	659	BMPR2	OMIM:178600
HP:0000005	Mode of inheritance	51428	DDX41	OMIM:616871
HP:0000005	Mode of inheritance	2705	GJB1	OMIM:302800
HP:0000005	Mode of inheritance	2332	FMR1	OMIM:300624
HP:0000005	Mode of inheritance	7098	TLR3	OMIM:613002
HP:0000005	Mode of inheritance	10320	IKZF1	OMIM:616873
HP:0000005	Mode of inheritance	148022	TICAM1	OMIM:614850
HP:0000005	Mode of inheritance	90268	OTULIN	OMIM:619986
HP:0000005	Mode of inheritance	7345	UCHL1	OMIM:613643
HP:0000005	Mode of inheritance	112476	PRRT2	OMIM:605751
HP:0000005	Mode of inheritance	112476	PRRT2	OMIM:128200
HP:0000005	Mode of inheritance	477	ATP1A2	OMIM:602481
HP:0000005	Mode of inheritance	10594	PRPF8	OMIM:600059
HP:0000005	Mode of inheritance	7273	TTN	OMIM:600334
HP:0000005	Mode of inheritance	5311	PKD2	OMIM:613095
HP:0000005	Mode of inheritance	7450	VWF	OMIM:193400
HP:0000005	Mode of inheritance	2903	GRIN2A	OMIM:245570
HP:0000005	Mode of inheritance	63982	ANO3	OMIM:615034
HP:0000005	Mode of inheritance	6329	SCN4A	OMIM:170400
HP:0000005	Mode of inheritance	5076	PAX2	OMIM:616002
HP:0000005	Mode of inheritance	8216	LZTR1	OMIM:615670
HP:0000005	Mode of inheritance	79853	TM4SF20	OMIM:615432
HP:0000005	Mode of inheritance	9927	MFN2	OMIM:609260
HP:0000005	Mode of inheritance	84196	USP48	OMIM:620227
HP:0000005	Mode of inheritance	7012	TERC	OMIM:614743
HP:0000005	Mode of inheritance	1282	COL4A1	OMIM:175780
HP:0000005	Mode of inheritance	2065	ERBB3	OMIM:133180
HP:0000005	Mode of inheritance	4976	OPA1	OMIM:165500
HP:0000005	Mode of inheritance	5727	PTCH1	OMIM:610828
HP:0000005	Mode of inheritance	8204	NRIP1	OMIM:618270
HP:0000005	Mode of inheritance	81	ACTN4	OMIM:603278
HP:0000005	Mode of inheritance	51750	RTEL1	OMIM:616373
HP:0000005	Mode of inheritance	5073	PARN	OMIM:616371
HP:0000005	Mode of inheritance	55145	THAP1	OMIM:602629
HP:0000005	Mode of inheritance	2301	FOXE3	OMIM:617349
HP:0000005	Mode of inheritance	64135	IFIH1	OMIM:615846
HP:0000005	Mode of inheritance	182	JAG1	OMIM:118450
HP:0000005	Mode of inheritance	91662	NLRP12	OMIM:611762
HP:0000005	Mode of inheritance	29110	TBK1	OMIM:617900
HP:0000005	Mode of inheritance	9681	DEPDC5	OMIM:604364
HP:0000005	Mode of inheritance	10137	RBM12	OMIM:617629
HP:0000005	Mode of inheritance	6785	ELOVL4	OMIM:133190
HP:0000005	Mode of inheritance	25913	POT1	OMIM:615848
HP:0000005	Mode of inheritance	1749	DLX5	OMIM:183600
HP:0000005	Mode of inheritance	1284	COL4A2	OMIM:614483
HP:0000005	Mode of inheritance	8131	NPRL3	OMIM:617118
HP:0000005	Mode of inheritance	120892	LRRK2	OMIM:607060
HP:0000005	Mode of inheritance	4041	LRP5	OMIM:617875
HP:0000005	Mode of inheritance	10641	NPRL2	OMIM:617116
HP:0000005	Mode of inheritance	140628	GATA5	OMIM:617912
HP:0000005	Mode of inheritance	256472	TMEM151A	OMIM:620245
HP:0000005	Mode of inheritance	51062	ATL1	OMIM:182600
HP:0000005	Mode of inheritance	3110	MNX1	OMIM:176450
HP:0000005	Mode of inheritance	6324	SCN1B	OMIM:604233
HP:0000005	Mode of inheritance	1371	CPOX	OMIM:121300
HP:0000005	Mode of inheritance	6599	SMARCC1	OMIM:620241
HP:0000005	Mode of inheritance	5903	RANBP2	OMIM:608033
HP:0000005	Mode of inheritance	9423	NTN1	OMIM:157600
HP:0000005	Mode of inheritance	5307	PITX1	OMIM:119800
HP:0000005	Mode of inheritance	4093	SMAD9	OMIM:615342
HP:0000005	Mode of inheritance	3832	KIF11	OMIM:152950
HP:0000005	Mode of inheritance	857	CAV1	OMIM:615343
HP:0000005	Mode of inheritance	6772	STAT1	OMIM:614892
HP:0000005	Mode of inheritance	8910	SGCE	OMIM:159900
HP:0000005	Mode of inheritance	5649	RELN	OMIM:616436
HP:0000005	Mode of inheritance	3798	KIF5A	OMIM:617921
HP:0000005	Mode of inheritance	2271	FH	OMIM:150800
HP:0000005	Mode of inheritance	22858	CILK1	OMIM:617924
HP:0000005	Mode of inheritance	8074	FGF23	OMIM:193100
HP:0000005	Mode of inheritance	4535	MT-ND1	OMIM:535000
HP:0000005	Mode of inheritance	4536	MT-ND2	OMIM:535000
HP:0000005	Mode of inheritance	4538	MT-ND4	OMIM:535000
HP:0000005	Mode of inheritance	4514	MT-CO3	OMIM:535000
HP:0000005	Mode of inheritance	4519	MT-CYB	OMIM:535000
HP:0000005	Mode of inheritance	4508	MT-ATP6	OMIM:535000
HP:0000005	Mode of inheritance	4540	MT-ND5	OMIM:535000
HP:0000005	Mode of inheritance	4541	MT-ND6	OMIM:535000
HP:0000005	Mode of inheritance	4539	MT-ND4L	OMIM:535000
HP:0000005	Mode of inheritance	80000	GREB1L	OMIM:617805
HP:0000005	Mode of inheritance	1861	TOR1A	OMIM:128100
HP:0000005	Mode of inheritance	9987	HNRNPDL	OMIM:609115
HP:0000005	Mode of inheritance	6235	RPS29	OMIM:615909
HP:0000005	Mode of inheritance	6605	SMARCE1	OMIM:607174
HP:0000005	Mode of inheritance	4330	MN1	OMIM:607174
HP:0000005	Mode of inheritance	4771	NF2	OMIM:607174
HP:0000005	Mode of inheritance	5155	PDGFB	OMIM:607174
HP:0000005	Mode of inheritance	94137	RP1L1	OMIM:613587
HP:0000005	Mode of inheritance	3000	GUCY2D	OMIM:601777
HP:0000005	Mode of inheritance	22873	DZIP1	OMIM:610840
HP:0000005	Mode of inheritance	8642	DCHS1	OMIM:607829
HP:0000005	Mode of inheritance	3356	HTR2A	OMIM:608516
HP:0000005	Mode of inheritance	2289	FKBP5	OMIM:608516
HP:0000005	Mode of inheritance	121278	TPH2	OMIM:608516
HP:0000005	Mode of inheritance	219736	STOX1	OMIM:609404
HP:0000005	Mode of inheritance	155	ADRB3	OMIM:601665
HP:0000005	Mode of inheritance	5167	ENPP1	OMIM:601665
HP:0000005	Mode of inheritance	7352	UCP3	OMIM:601665
HP:0000005	Mode of inheritance	5443	POMC	OMIM:601665
HP:0000005	Mode of inheritance	8431	NR0B2	OMIM:601665
HP:0000005	Mode of inheritance	9607	CARTPT	OMIM:601665
HP:0000005	Mode of inheritance	51738	GHRL	OMIM:601665
HP:0000005	Mode of inheritance	9672	SDC3	OMIM:601665
HP:0000005	Mode of inheritance	181	AGRP	OMIM:601665
HP:0000005	Mode of inheritance	5468	PPARG	OMIM:601665
HP:0000005	Mode of inheritance	7157	TP53	OMIM:607107
HP:0000005	Mode of inheritance	22861	NLRP1	OMIM:606579
HP:0000005	Mode of inheritance	652	BMP4	OMIM:600625
HP:0000005	Mode of inheritance	2782	GNB1	OMIM:613065
HP:0000005	Mode of inheritance	6886	TAL1	OMIM:613065
HP:0000005	Mode of inheritance	6887	TAL2	OMIM:613065
HP:0000005	Mode of inheritance	581	BAX	OMIM:613065
HP:0000005	Mode of inheritance	2322	FLT3	OMIM:613065
HP:0000005	Mode of inheritance	4683	NBN	OMIM:613065
HP:0000005	Mode of inheritance	8021	NUP214	OMIM:613065
HP:0000005	Mode of inheritance	613	BCR	OMIM:613065
HP:0000005	Mode of inheritance	8542	APOL1	OMIM:612551
HP:0000005	Mode of inheritance	64241	ABCG8	OMIM:611465
HP:0000005	Mode of inheritance	144568	A2ML1	OMIM:166760
HP:0000005	Mode of inheritance	3075	CFH	OMIM:610698
HP:0000005	Mode of inheritance	5654	HTRA1	OMIM:610149
HP:0000005	Mode of inheritance	1471	CST3	OMIM:611953
HP:0000005	Mode of inheritance	871	SERPINH1	OMIM:610504
HP:0000005	Mode of inheritance	23767	FLRT3	OMIM:615271
HP:0000005	Mode of inheritance	7298	TYMS	OMIM:620040
HP:0000005	Mode of inheritance	128	ADH5	OMIM:619151
HP:0000005	Mode of inheritance	79659	DYNC2H1	OMIM:613091
HP:0000005	Mode of inheritance	1187	CLCNKA	OMIM:613090
HP:0000005	Mode of inheritance	1188	CLCNKB	OMIM:613090
HP:0000005	Mode of inheritance	392255	GDF6	OMIM:613703
HP:0000005	Mode of inheritance	9573	GDF3	OMIM:613703
HP:0000005	Mode of inheritance	23347	SMCHD1	OMIM:158901
HP:0000005	Mode of inheritance	55791	LRIF1	OMIM:619477
HP:0000005	Mode of inheritance	1789	DNMT3B	OMIM:619478
HP:0000005	Mode of inheritance	2706	GJB2	OMIM:220290
HP:0000005	Mode of inheritance	2707	GJB3	OMIM:220290
HP:0000005	Mode of inheritance	10804	GJB6	OMIM:220290
HP:0000005	Mode of inheritance	28234	SLCO1B3	OMIM:237450
HP:0000005	Mode of inheritance	10599	SLCO1B1	OMIM:237450
HP:0000005	Mode of inheritance	4750	NEK1	OMIM:263520
HP:0000005	Mode of inheritance	23189	KANK1	OMIM:612900
HP:0000005	Mode of inheritance	5296	PIK3R2	OMIM:603387
HP:0000005	Mode of inheritance	23250	ATP11A	OMIM:619851
HP:0000005	Mode of inheritance	5594	MAPK1	OMIM:619087
HP:0000005	Mode of inheritance	57680	CHD8	OMIM:615032
HP:0000005	Mode of inheritance	10501	SEMA6B	OMIM:618876
HP:0000005	Mode of inheritance	2783	GNB2	OMIM:619503
HP:0000005	Mode of inheritance	58508	KMT2C	OMIM:617768
HP:0000005	Mode of inheritance	27102	EIF2AK1	OMIM:618878
HP:0000005	Mode of inheritance	5430	POLR2A	OMIM:618603
HP:0000005	Mode of inheritance	51341	ZBTB7A	OMIM:619769
HP:0000005	Mode of inheritance	6716	SRD5A2	OMIM:264600
HP:0000005	Mode of inheritance	79983	POF1B	OMIM:300604
HP:0002715	Abnormality of the immune system	23394	ADNP	ORPHA:404448
HP:0002715	Abnormality of the immune system	23394	ADNP	OMIM:615873
HP:0002715	Abnormality of the immune system	9860	LRIG2	OMIM:615112
HP:0002715	Abnormality of the immune system	9860	LRIG2	ORPHA:2704
HP:0002715	Abnormality of the immune system	3426	CFI	OMIM:610984
HP:0002715	Abnormality of the immune system	1131	CHRM3	ORPHA:2970
HP:0002715	Abnormality of the immune system	6519	SLC3A1	OMIM:220100
HP:0002715	Abnormality of the immune system	11136	SLC7A9	OMIM:220100
HP:0002715	Abnormality of the immune system	3313	HSPA9	OMIM:616854
HP:0002715	Abnormality of the immune system	10686	CLDN16	OMIM:248250
HP:0002715	Abnormality of the immune system	6595	SMARCA2	OMIM:619293
HP:0002715	Abnormality of the immune system	51726	DNAJB11	ORPHA:730
HP:0002715	Abnormality of the immune system	23193	GANAB	ORPHA:730
HP:0002715	Abnormality of the immune system	5310	PKD1	ORPHA:730
HP:0002715	Abnormality of the immune system	5311	PKD2	ORPHA:730
HP:0002715	Abnormality of the immune system	5311	PKD2	OMIM:613095
HP:0002715	Abnormality of the immune system	29880	ALG5	ORPHA:730
HP:0002715	Abnormality of the immune system	80114	BICC1	ORPHA:730
HP:0002715	Abnormality of the immune system	284058	KANSL1	ORPHA:363958
HP:0002715	Abnormality of the immune system	284058	KANSL1	ORPHA:363965
HP:0002715	Abnormality of the immune system	284058	KANSL1	OMIM:610443
HP:0002715	Abnormality of the immune system	54496	PRMT7	OMIM:617157
HP:0002715	Abnormality of the immune system	1136	CHRNA3	OMIM:191800
HP:0002715	Abnormality of the immune system	284252	KCTD1	ORPHA:2036
HP:0002715	Abnormality of the immune system	10459	MAD2L2	ORPHA:84
HP:0002715	Abnormality of the immune system	7516	XRCC2	ORPHA:84
HP:0002715	Abnormality of the immune system	29089	UBE2T	ORPHA:84
HP:0002715	Abnormality of the immune system	55120	FANCL	ORPHA:84
HP:0002715	Abnormality of the immune system	2177	FANCD2	ORPHA:84
HP:0002715	Abnormality of the immune system	2175	FANCA	ORPHA:84
HP:0002715	Abnormality of the immune system	2187	FANCB	ORPHA:84
HP:0002715	Abnormality of the immune system	2176	FANCC	ORPHA:84
HP:0002715	Abnormality of the immune system	2178	FANCE	ORPHA:84
HP:0002715	Abnormality of the immune system	2189	FANCG	ORPHA:84
HP:0002715	Abnormality of the immune system	5888	RAD51	ORPHA:84
HP:0002715	Abnormality of the immune system	5889	RAD51C	ORPHA:84
HP:0002715	Abnormality of the immune system	55159	RFWD3	ORPHA:84
HP:0002715	Abnormality of the immune system	83990	BRIP1	ORPHA:84
HP:0002715	Abnormality of the immune system	57697	FANCM	ORPHA:84
HP:0002715	Abnormality of the immune system	84464	SLX4	ORPHA:84
HP:0002715	Abnormality of the immune system	2072	ERCC4	ORPHA:84
HP:0002715	Abnormality of the immune system	55215	FANCI	ORPHA:84
HP:0002715	Abnormality of the immune system	3670	ISL1	ORPHA:93930
HP:0002715	Abnormality of the immune system	3209	HOXA13	ORPHA:2438
HP:0002715	Abnormality of the immune system	10524	KAT5	OMIM:619103
HP:0002715	Abnormality of the immune system	149461	CLDN19	OMIM:248190
HP:0002715	Abnormality of the immune system	60495	HPSE2	ORPHA:2704
HP:0002715	Abnormality of the immune system	60495	HPSE2	OMIM:236730
HP:0002715	Abnormality of the immune system	6304	SATB1	OMIM:619229
HP:0002715	Abnormality of the immune system	8883	NAE1	OMIM:620210
HP:0002715	Abnormality of the immune system	84265	POLR3GL	OMIM:619234
HP:0002715	Abnormality of the immune system	7461	CLIP2	ORPHA:904
HP:0002715	Abnormality of the immune system	84277	DNAJC30	ORPHA:904
HP:0002715	Abnormality of the immune system	8468	FKBP6	ORPHA:904
HP:0002715	Abnormality of the immune system	5982	RFC2	ORPHA:904
HP:0002715	Abnormality of the immune system	2969	GTF2I	ORPHA:904
HP:0002715	Abnormality of the immune system	3984	LIMK1	ORPHA:904
HP:0002715	Abnormality of the immune system	9569	GTF2IRD1	ORPHA:904
HP:0002715	Abnormality of the immune system	155382	VPS37D	ORPHA:904
HP:0002715	Abnormality of the immune system	155368	METTL27	ORPHA:904
HP:0002715	Abnormality of the immune system	114049	BUD23	ORPHA:904
HP:0002715	Abnormality of the immune system	7458	EIF4H	ORPHA:904
HP:0002715	Abnormality of the immune system	84163	GTF2IRD2	ORPHA:904
HP:0002715	Abnormality of the immune system	26608	TBL2	ORPHA:904
HP:0002715	Abnormality of the immune system	135886	TMEM270	ORPHA:904
HP:0002715	Abnormality of the immune system	9031	BAZ1B	ORPHA:904
HP:0002715	Abnormality of the immune system	54796	BNC2	ORPHA:93110
HP:0002715	Abnormality of the immune system	10056	FARSB	OMIM:613658
HP:0002715	Abnormality of the immune system	7466	WFS1	ORPHA:3463
HP:0002715	Abnormality of the immune system	9380	GRHPR	ORPHA:93599
HP:0002715	Abnormality of the immune system	8936	WASF1	OMIM:618707
HP:0002715	Abnormality of the immune system	189	AGXT	ORPHA:93598
HP:0002715	Abnormality of the immune system	2131	EXT1	ORPHA:502
HP:0002715	Abnormality of the immune system	5885	RAD21	ORPHA:502
HP:0002715	Abnormality of the immune system	7227	TRPS1	ORPHA:502
HP:0002715	Abnormality of the immune system	79228	THOC6	ORPHA:363444
HP:0002715	Abnormality of the immune system	79228	THOC6	OMIM:613680
HP:0002715	Abnormality of the immune system	79803	HPS6	OMIM:614075
HP:0002715	Abnormality of the immune system	10398	MYL9	OMIM:619365
HP:0002715	Abnormality of the immune system	7148	TNXB	OMIM:615963
HP:0002715	Abnormality of the immune system	353	APRT	ORPHA:976
HP:0002715	Abnormality of the immune system	403	ARL3	OMIM:618161
HP:0002715	Abnormality of the immune system	6524	SLC5A2	ORPHA:69076
HP:0002715	Abnormality of the immune system	7994	KAT6A	OMIM:616268
HP:0002715	Abnormality of the immune system	64321	SOX17	OMIM:613674
HP:0002715	Abnormality of the immune system	4052	LTBP1	ORPHA:90349
HP:0002715	Abnormality of the immune system	30008	EFEMP2	ORPHA:90349
HP:0002715	Abnormality of the immune system	10516	FBLN5	ORPHA:90349
HP:0002715	Abnormality of the immune system	2303	FOXC2	ORPHA:33001
HP:0002715	Abnormality of the immune system	1291	COL6A1	OMIM:158810
HP:0002715	Abnormality of the immune system	4001	LMNB1	ORPHA:99027
HP:0002715	Abnormality of the immune system	3081	HGD	ORPHA:56
HP:0002715	Abnormality of the immune system	81494	CFHR5	OMIM:614809
HP:0002715	Abnormality of the immune system	4311	MME	ORPHA:69063
HP:0002715	Abnormality of the immune system	3913	LAMB2	OMIM:614199
HP:0002715	Abnormality of the immune system	57728	WDR19	OMIM:614376
HP:0002715	Abnormality of the immune system	7369	UMOD	OMIM:162000
HP:0002715	Abnormality of the immune system	1286	COL4A4	OMIM:203780
HP:0002715	Abnormality of the immune system	1285	COL4A3	OMIM:104200
HP:0002715	Abnormality of the immune system	5340	PLG	OMIM:217090
HP:0002715	Abnormality of the immune system	4627	MYH9	ORPHA:182050
HP:0002715	Abnormality of the immune system	977	CD151	OMIM:609057
HP:0002715	Abnormality of the immune system	847	CAT	ORPHA:926
HP:0002715	Abnormality of the immune system	4256	MGP	OMIM:245150
HP:0002715	Abnormality of the immune system	860	RUNX2	ORPHA:1452
HP:0002715	Abnormality of the immune system	51314	NME8	OMIM:610852
HP:0002715	Abnormality of the immune system	352909	DNAAF3	OMIM:606763
HP:0002715	Abnormality of the immune system	3321	IGSF3	OMIM:149700
HP:0002715	Abnormality of the immune system	79158	GNPTAB	ORPHA:576
HP:0002715	Abnormality of the immune system	2263	FGFR2	ORPHA:87
HP:0002715	Abnormality of the immune system	6103	RPGR	OMIM:300455
HP:0002715	Abnormality of the immune system	64324	NSD1	OMIM:117550
HP:0002715	Abnormality of the immune system	152110	NEK10	OMIM:618781
HP:0002715	Abnormality of the immune system	25836	NIPBL	OMIM:122470
HP:0002715	Abnormality of the immune system	11011	TLK2	OMIM:618050
HP:0002715	Abnormality of the immune system	339829	CCDC39	OMIM:613807
HP:0002715	Abnormality of the immune system	3590	IL11RA	OMIM:614188
HP:0002715	Abnormality of the immune system	10297	APC2	ORPHA:821
HP:0002715	Abnormality of the immune system	6872	TAF1	OMIM:300966
HP:0002715	Abnormality of the immune system	6872	TAF1	ORPHA:480907
HP:0002715	Abnormality of the immune system	29123	ANKRD11	ORPHA:261250
HP:0002715	Abnormality of the immune system	23483	TGDS	ORPHA:1388
HP:0002715	Abnormality of the immune system	8604	SLC25A12	OMIM:612949
HP:0002715	Abnormality of the immune system	9496	TBX4	ORPHA:261279
HP:0002715	Abnormality of the immune system	2070	EYA4	ORPHA:217622
HP:0002715	Abnormality of the immune system	80232	WDR26	ORPHA:513456
HP:0002715	Abnormality of the immune system	80232	WDR26	OMIM:617616
HP:0002715	Abnormality of the immune system	89765	RSPH1	OMIM:615481
HP:0002715	Abnormality of the immune system	89765	RSPH1	ORPHA:244
HP:0002715	Abnormality of the immune system	161582	DNAAF4	OMIM:615482
HP:0002715	Abnormality of the immune system	161582	DNAAF4	ORPHA:244
HP:0002715	Abnormality of the immune system	5818	NECTIN1	ORPHA:199306
HP:0002715	Abnormality of the immune system	1739	DLG1	ORPHA:199306
HP:0002715	Abnormality of the immune system	999	CDH1	ORPHA:199306
HP:0002715	Abnormality of the immune system	5156	PDGFRA	ORPHA:199306
HP:0002715	Abnormality of the immune system	3664	IRF6	ORPHA:199306
HP:0002715	Abnormality of the immune system	1748	DLX4	ORPHA:199306
HP:0002715	Abnormality of the immune system	4487	MSX1	ORPHA:199306
HP:0002715	Abnormality of the immune system	652	BMP4	ORPHA:199306
HP:0002715	Abnormality of the immune system	22837	COBLL1	ORPHA:199306
HP:0002715	Abnormality of the immune system	54848	ARHGEF38	ORPHA:199306
HP:0002715	Abnormality of the immune system	9411	ARHGAP29	ORPHA:199306
HP:0002715	Abnormality of the immune system	51111	KMT5B	OMIM:617788
HP:0002715	Abnormality of the immune system	146845	CFAP52	OMIM:619607
HP:0002715	Abnormality of the immune system	2314	FLII	ORPHA:819
HP:0002715	Abnormality of the immune system	23096	IQSEC2	ORPHA:819
HP:0002715	Abnormality of the immune system	144568	A2ML1	OMIM:166760
HP:0002715	Abnormality of the immune system	8382	NME5	OMIM:620032
HP:0002715	Abnormality of the immune system	8382	NME5	ORPHA:244
HP:0002715	Abnormality of the immune system	1301	COL11A1	OMIM:154780
HP:0002715	Abnormality of the immune system	56992	KIF15	ORPHA:261323
HP:0002715	Abnormality of the immune system	7314	UBB	ORPHA:155878
HP:0002715	Abnormality of the immune system	7314	UBB	ORPHA:99772
HP:0002715	Abnormality of the immune system	57822	GRHL3	ORPHA:155878
HP:0002715	Abnormality of the immune system	57822	GRHL3	ORPHA:99772
HP:0002715	Abnormality of the immune system	123872	DNAAF1	OMIM:613193
HP:0002715	Abnormality of the immune system	123872	DNAAF1	ORPHA:244
HP:0002715	Abnormality of the immune system	25885	POLR1A	OMIM:616462
HP:0002715	Abnormality of the immune system	6885	MAP3K7	OMIM:157800
HP:0002715	Abnormality of the immune system	26834	RNU4-2	OMIM:620851
HP:0002715	Abnormality of the immune system	30011	SH3KBP1	OMIM:300310
HP:0002715	Abnormality of the immune system	83861	RSPH3	OMIM:616481
HP:0002715	Abnormality of the immune system	83861	RSPH3	ORPHA:244
HP:0002715	Abnormality of the immune system	56006	SMG9	OMIM:619995
HP:0002715	Abnormality of the immune system	8364	H4C3	OMIM:619758
HP:0002715	Abnormality of the immune system	54499	TMCO1	OMIM:213980
HP:0002715	Abnormality of the immune system	113179	ADAT3	OMIM:615286
HP:0002715	Abnormality of the immune system	113179	ADAT3	ORPHA:363528
HP:0002715	Abnormality of the immune system	54919	DNAAF5	OMIM:614874
HP:0002715	Abnormality of the immune system	54919	DNAAF5	ORPHA:244
HP:0002715	Abnormality of the immune system	3373	HYAL1	OMIM:601492
HP:0002715	Abnormality of the immune system	2535	FZD2	OMIM:164745
HP:0002715	Abnormality of the immune system	7030	TFE3	OMIM:301066
HP:0002715	Abnormality of the immune system	92749	DRC1	OMIM:615294
HP:0002715	Abnormality of the immune system	92749	DRC1	ORPHA:244
HP:0002715	Abnormality of the immune system	84522	JAGN1	OMIM:616022
HP:0002715	Abnormality of the immune system	246176	GAS2L2	OMIM:618449
HP:0002715	Abnormality of the immune system	246176	GAS2L2	ORPHA:244
HP:0002715	Abnormality of the immune system	25981	DNAH1	ORPHA:244
HP:0002715	Abnormality of the immune system	54768	HYDIN	ORPHA:244
HP:0002715	Abnormality of the immune system	54768	HYDIN	OMIM:608647
HP:0002715	Abnormality of the immune system	27148	STK36	ORPHA:244
HP:0002715	Abnormality of the immune system	27148	STK36	OMIM:619436
HP:0002715	Abnormality of the immune system	54970	TTC12	ORPHA:244
HP:0002715	Abnormality of the immune system	2302	FOXJ1	ORPHA:244
HP:0002715	Abnormality of the immune system	221421	RSPH9	ORPHA:244
HP:0002715	Abnormality of the immune system	85478	CCDC65	ORPHA:244
HP:0002715	Abnormality of the immune system	85478	CCDC65	OMIM:615504
HP:0002715	Abnormality of the immune system	55036	CCDC40	ORPHA:244
HP:0002715	Abnormality of the immune system	55036	CCDC40	OMIM:613808
HP:0002715	Abnormality of the immune system	51364	ZMYND10	ORPHA:244
HP:0002715	Abnormality of the immune system	51364	ZMYND10	OMIM:615444
HP:0002715	Abnormality of the immune system	6674	SPAG1	ORPHA:244
HP:0002715	Abnormality of the immune system	6674	SPAG1	OMIM:615505
HP:0002715	Abnormality of the immune system	83544	DNAL1	ORPHA:244
HP:0002715	Abnormality of the immune system	83538	ODAD4	ORPHA:244
HP:0002715	Abnormality of the immune system	200373	CFAP221	ORPHA:244
HP:0002715	Abnormality of the immune system	374407	DNAJB13	ORPHA:244
HP:0002715	Abnormality of the immune system	55172	DNAAF2	ORPHA:244
HP:0002715	Abnormality of the immune system	2622	GAS8	ORPHA:244
HP:0002715	Abnormality of the immune system	2622	GAS8	OMIM:616726
HP:0002715	Abnormality of the immune system	23639	DNAAF11	ORPHA:244
HP:0002715	Abnormality of the immune system	23639	DNAAF11	OMIM:614935
HP:0002715	Abnormality of the immune system	345895	RSPH4A	ORPHA:244
HP:0002715	Abnormality of the immune system	85452	CFAP74	ORPHA:244
HP:0002715	Abnormality of the immune system	93233	ODAD1	ORPHA:244
HP:0002715	Abnormality of the immune system	93233	ODAD1	OMIM:615067
HP:0002715	Abnormality of the immune system	55130	ODAD2	ORPHA:244
HP:0002715	Abnormality of the immune system	55130	ODAD2	OMIM:615451
HP:0002715	Abnormality of the immune system	1767	DNAH5	ORPHA:244
HP:0002715	Abnormality of the immune system	1767	DNAH5	OMIM:608644
HP:0002715	Abnormality of the immune system	56683	CFAP298	ORPHA:244
HP:0002715	Abnormality of the immune system	56683	CFAP298	OMIM:615500
HP:0002715	Abnormality of the immune system	79925	SPEF2	ORPHA:244
HP:0002715	Abnormality of the immune system	115399	LRRC56	ORPHA:244
HP:0002715	Abnormality of the immune system	115399	LRRC56	OMIM:618254
HP:0002715	Abnormality of the immune system	139212	DNAAF6	ORPHA:244
HP:0002715	Abnormality of the immune system	85016	CFAP300	ORPHA:244
HP:0002715	Abnormality of the immune system	8701	DNAH11	ORPHA:244
HP:0002715	Abnormality of the immune system	8701	DNAH11	OMIM:611884
HP:0002715	Abnormality of the immune system	1770	DNAH9	ORPHA:244
HP:0002715	Abnormality of the immune system	2742	GLRA2	OMIM:301076
HP:0002715	Abnormality of the immune system	55023	PHIP	ORPHA:589905
HP:0002715	Abnormality of the immune system	29072	SETD2	OMIM:616831
HP:0002715	Abnormality of the immune system	7068	THRB	ORPHA:566243
HP:0002715	Abnormality of the immune system	1642	DDB1	OMIM:619426
HP:0002715	Abnormality of the immune system	5908	RAP1B	OMIM:620654
HP:0002715	Abnormality of the immune system	388015	RTL1	ORPHA:254531
HP:0002715	Abnormality of the immune system	388015	RTL1	ORPHA:96184
HP:0002715	Abnormality of the immune system	8788	DLK1	ORPHA:254531
HP:0002715	Abnormality of the immune system	8788	DLK1	ORPHA:96184
HP:0002715	Abnormality of the immune system	55384	MEG3	ORPHA:254531
HP:0002715	Abnormality of the immune system	55384	MEG3	ORPHA:96184
HP:0002715	Abnormality of the immune system	5575	PRKAR1B	OMIM:619680
HP:0002715	Abnormality of the immune system	388389	DNAAF19	OMIM:614679
HP:0002715	Abnormality of the immune system	4297	KMT2A	OMIM:605130
HP:0002715	Abnormality of the immune system	57551	TAOK1	OMIM:619575
HP:0002715	Abnormality of the immune system	6045	RNF2	OMIM:619460
HP:0002715	Abnormality of the immune system	1280	COL2A1	OMIM:156550
HP:0002715	Abnormality of the immune system	1053	CEBPE	OMIM:245480
HP:0002715	Abnormality of the immune system	5718	PSMD12	ORPHA:529962
HP:0002715	Abnormality of the immune system	2186	BPTF	ORPHA:529962
HP:0002715	Abnormality of the immune system	1822	ATN1	OMIM:618494
HP:0002715	Abnormality of the immune system	6874	TAF4	OMIM:620450
HP:0002715	Abnormality of the immune system	164781	DAW1	OMIM:620570
HP:0002715	Abnormality of the immune system	55329	MNS1	OMIM:618948
HP:0002715	Abnormality of the immune system	920	CD4	OMIM:619238
HP:0002715	Abnormality of the immune system	23112	TNRC6B	OMIM:619243
HP:0002715	Abnormality of the immune system	2799	GNS	OMIM:252940
HP:0002715	Abnormality of the immune system	83844	USP26	OMIM:301101
HP:0002715	Abnormality of the immune system	5879	RAC1	OMIM:617751
HP:0002715	Abnormality of the immune system	5879	RAC1	ORPHA:500159
HP:0002715	Abnormality of the immune system	341208	HEPHL1	OMIM:261990
HP:0002715	Abnormality of the immune system	6736	SRY	ORPHA:1772
HP:0002715	Abnormality of the immune system	5130	PCYT1A	OMIM:608940
HP:0002715	Abnormality of the immune system	1643	DDB2	OMIM:278740
HP:0002715	Abnormality of the immune system	1643	DDB2	ORPHA:910
HP:0002715	Abnormality of the immune system	5080	PAX6	ORPHA:2334
HP:0002715	Abnormality of the immune system	5080	PAX6	OMIM:148190
HP:0002715	Abnormality of the immune system	22947	DUX4L1	ORPHA:269
HP:0002715	Abnormality of the immune system	2483	FRG1	ORPHA:269
HP:0002715	Abnormality of the immune system	23347	SMCHD1	ORPHA:269
HP:0002715	Abnormality of the immune system	100288687	DUX4	ORPHA:269
HP:0002715	Abnormality of the immune system	7507	XPA	OMIM:278700
HP:0002715	Abnormality of the immune system	7507	XPA	ORPHA:910
HP:0002715	Abnormality of the immune system	5429	POLH	OMIM:278750
HP:0002715	Abnormality of the immune system	5429	POLH	ORPHA:90342
HP:0002715	Abnormality of the immune system	6935	ZEB1	OMIM:613270
HP:0002715	Abnormality of the immune system	7508	XPC	OMIM:278720
HP:0002715	Abnormality of the immune system	7508	XPC	ORPHA:910
HP:0002715	Abnormality of the immune system	9244	CRLF1	OMIM:272430
HP:0002715	Abnormality of the immune system	9126	SMC3	ORPHA:199
HP:0002715	Abnormality of the immune system	6878	TAF6	ORPHA:199
HP:0002715	Abnormality of the immune system	55869	HDAC8	ORPHA:199
HP:0002715	Abnormality of the immune system	5980	REV3L	ORPHA:570
HP:0002715	Abnormality of the immune system	6768	ST14	OMIM:602400
HP:0002715	Abnormality of the immune system	23556	PIGN	ORPHA:280633
HP:0002715	Abnormality of the immune system	5333	PLCD1	ORPHA:2387
HP:0002715	Abnormality of the immune system	488	ATP2A2	ORPHA:218
HP:0002715	Abnormality of the immune system	7086	TKT	ORPHA:488618
HP:0002715	Abnormality of the immune system	5075	PAX1	OMIM:615560
HP:0002715	Abnormality of the immune system	726	CAPN5	OMIM:193235
HP:0002715	Abnormality of the immune system	220202	ATOH7	OMIM:221900
HP:0002715	Abnormality of the immune system	84181	CHD6	ORPHA:2108
HP:0002715	Abnormality of the immune system	1281	COL3A1	OMIM:130050
HP:0002715	Abnormality of the immune system	1281	COL3A1	ORPHA:286
HP:0002715	Abnormality of the immune system	55612	FERMT1	ORPHA:2908
HP:0002715	Abnormality of the immune system	55612	FERMT1	OMIM:173650
HP:0002715	Abnormality of the immune system	165	AEBP1	OMIM:618000
HP:0002715	Abnormality of the immune system	165	AEBP1	ORPHA:536532
HP:0002715	Abnormality of the immune system	2248	FGF3	ORPHA:2791
HP:0002715	Abnormality of the immune system	92344	GORAB	OMIM:231070
HP:0002715	Abnormality of the immune system	8546	AP3B1	OMIM:608233
HP:0002715	Abnormality of the immune system	4853	NOTCH2	ORPHA:955
HP:0002715	Abnormality of the immune system	4952	OCRL	ORPHA:534
HP:0002715	Abnormality of the immune system	80144	FRAS1	OMIM:219000
HP:0002715	Abnormality of the immune system	137814	NKX2-6	ORPHA:3384
HP:0002715	Abnormality of the immune system	23129	PLXND1	ORPHA:3384
HP:0002715	Abnormality of the immune system	8425	LTBP4	OMIM:613177
HP:0002715	Abnormality of the immune system	84172	POLR1B	ORPHA:861
HP:0002715	Abnormality of the immune system	9533	POLR1C	ORPHA:861
HP:0002715	Abnormality of the immune system	51082	POLR1D	ORPHA:861
HP:0002715	Abnormality of the immune system	6949	TCOF1	ORPHA:861
HP:0002715	Abnormality of the immune system	341640	FREM2	OMIM:617666
HP:0002715	Abnormality of the immune system	8526	DGKE	OMIM:615008
HP:0002715	Abnormality of the immune system	6909	TBX2	OMIM:618223
HP:0002715	Abnormality of the immune system	10068	IL18BP	OMIM:618549
HP:0002715	Abnormality of the immune system	5428	POLG	ORPHA:94125
HP:0002715	Abnormality of the immune system	27022	FOXD3	OMIM:607836
HP:0002715	Abnormality of the immune system	23040	MYT1L	ORPHA:647799
HP:0002715	Abnormality of the immune system	716	C1S	OMIM:613783
HP:0002715	Abnormality of the immune system	1027	CDKN1B	OMIM:610755
HP:0002715	Abnormality of the immune system	1188	CLCNKB	ORPHA:358
HP:0002715	Abnormality of the immune system	6559	SLC12A3	ORPHA:358
HP:0002715	Abnormality of the immune system	8036	SHOC2	OMIM:607721
HP:0002715	Abnormality of the immune system	2235	FECH	OMIM:177000
HP:0002715	Abnormality of the immune system	2235	FECH	ORPHA:79278
HP:0002715	Abnormality of the immune system	9759	HDAC4	ORPHA:1001
HP:0002715	Abnormality of the immune system	9759	HDAC4	OMIM:600430
HP:0002715	Abnormality of the immune system	3021	H3-3B	OMIM:619721
HP:0002715	Abnormality of the immune system	79644	SRD5A3	OMIM:612379
HP:0002715	Abnormality of the immune system	5053	PAH	OMIM:261600
HP:0002715	Abnormality of the immune system	5053	PAH	ORPHA:79254
HP:0002715	Abnormality of the immune system	7175	TPR	OMIM:620393
HP:0002715	Abnormality of the immune system	1896	EDA	OMIM:305100
HP:0002715	Abnormality of the immune system	7780	SLC30A2	OMIM:608118
HP:0002715	Abnormality of the immune system	3141	HLCS	ORPHA:79242
HP:0002715	Abnormality of the immune system	6821	SUOX	OMIM:272300
HP:0002715	Abnormality of the immune system	26053	AUTS2	ORPHA:352490
HP:0002715	Abnormality of the immune system	267010	RNU12	ORPHA:85199
HP:0002715	Abnormality of the immune system	1474	CST6	OMIM:618535
HP:0002715	Abnormality of the immune system	126695	KDF1	OMIM:617337
HP:0002715	Abnormality of the immune system	126695	KDF1	ORPHA:1810
HP:0002715	Abnormality of the immune system	25914	RTTN	ORPHA:468631
HP:0002715	Abnormality of the immune system	79092	CARD14	ORPHA:2897
HP:0002715	Abnormality of the immune system	283209	PGM2L1	OMIM:620191
HP:0002715	Abnormality of the immune system	203190	LGI3	OMIM:620007
HP:0002715	Abnormality of the immune system	9526	MPDU1	ORPHA:79323
HP:0002715	Abnormality of the immune system	55181	SMG8	OMIM:619268
HP:0002715	Abnormality of the immune system	7189	TRAF6	ORPHA:1810
HP:0002715	Abnormality of the immune system	10913	EDAR	ORPHA:1810
HP:0002715	Abnormality of the immune system	7010	TEK	ORPHA:1059
HP:0002715	Abnormality of the immune system	23152	CIC	OMIM:617600
HP:0002715	Abnormality of the immune system	2697	GJA1	ORPHA:317
HP:0002715	Abnormality of the immune system	2707	GJB3	ORPHA:317
HP:0002715	Abnormality of the immune system	2531	KDSR	ORPHA:317
HP:0002715	Abnormality of the immune system	127534	GJB4	ORPHA:317
HP:0002715	Abnormality of the immune system	55739	NAXD	OMIM:618321
HP:0002715	Abnormality of the immune system	6389	SDHA	ORPHA:44890
HP:0002715	Abnormality of the immune system	340024	SLC6A19	ORPHA:2116
HP:0002715	Abnormality of the immune system	57393	CLTRN	ORPHA:2116
HP:0002715	Abnormality of the immune system	9181	ARHGEF2	OMIM:617523
HP:0002715	Abnormality of the immune system	56916	SMARCAD1	ORPHA:1658
HP:0002715	Abnormality of the immune system	3858	KRT10	ORPHA:312
HP:0002715	Abnormality of the immune system	3858	KRT10	OMIM:620150
HP:0002715	Abnormality of the immune system	3858	KRT10	OMIM:620707
HP:0002715	Abnormality of the immune system	3858	KRT10	OMIM:609165
HP:0002715	Abnormality of the immune system	3848	KRT1	ORPHA:312
HP:0002715	Abnormality of the immune system	3848	KRT1	OMIM:113800
HP:0002715	Abnormality of the immune system	11012	KLK11	OMIM:620507
HP:0002715	Abnormality of the immune system	162	AP1B1	OMIM:242150
HP:0002715	Abnormality of the immune system	57609	DIP2B	OMIM:136630
HP:0002715	Abnormality of the immune system	4047	LSS	OMIM:618840
HP:0002715	Abnormality of the immune system	10682	EBP	OMIM:302960
HP:0002715	Abnormality of the immune system	10682	EBP	ORPHA:35173
HP:0002715	Abnormality of the immune system	204219	CERS3	OMIM:615023
HP:0002715	Abnormality of the immune system	204219	CERS3	ORPHA:79394
HP:0002715	Abnormality of the immune system	285848	PNPLA1	OMIM:615024
HP:0002715	Abnormality of the immune system	285848	PNPLA1	ORPHA:79394
HP:0002715	Abnormality of the immune system	2615	LRRC32	OMIM:619074
HP:0002715	Abnormality of the immune system	388698	FLG2	OMIM:618084
HP:0002715	Abnormality of the immune system	3735	KARS1	ORPHA:3240
HP:0002715	Abnormality of the immune system	5498	PPOX	OMIM:620483
HP:0002715	Abnormality of the immune system	23102	TBC1D2B	ORPHA:397973
HP:0002715	Abnormality of the immune system	22880	MORC2	ORPHA:466768
HP:0002715	Abnormality of the immune system	79755	ZNF750	OMIM:610227
HP:0002715	Abnormality of the immune system	64087	MCCC2	OMIM:210210
HP:0002715	Abnormality of the immune system	285	ANGPT2	ORPHA:79452
HP:0002715	Abnormality of the immune system	57165	GJC2	ORPHA:79452
HP:0002715	Abnormality of the immune system	374393	FAM111B	OMIM:615704
HP:0002715	Abnormality of the immune system	9563	H6PD	OMIM:604931
HP:0002715	Abnormality of the immune system	5566	PRKACA	OMIM:615830
HP:0002715	Abnormality of the immune system	54361	WNT4	ORPHA:247768
HP:0002715	Abnormality of the immune system	54361	WNT4	OMIM:158330
HP:0002715	Abnormality of the immune system	285590	SH3PXD2B	ORPHA:137834
HP:0002715	Abnormality of the immune system	285590	SH3PXD2B	OMIM:249420
HP:0002715	Abnormality of the immune system	3973	LHCGR	ORPHA:3000
HP:0002715	Abnormality of the immune system	9060	PAPSS2	OMIM:612847
HP:0002715	Abnormality of the immune system	83550	GPR101	ORPHA:963
HP:0002715	Abnormality of the immune system	9049	AIP	ORPHA:963
HP:0002715	Abnormality of the immune system	64131	XYLT1	ORPHA:370930
HP:0002715	Abnormality of the immune system	2099	ESR1	ORPHA:785
HP:0002715	Abnormality of the immune system	2099	ESR1	OMIM:615363
HP:0002715	Abnormality of the immune system	79798	ARMC5	ORPHA:189427
HP:0002715	Abnormality of the immune system	23028	KDM1A	ORPHA:189427
HP:0002715	Abnormality of the immune system	367	AR	ORPHA:99429
HP:0002715	Abnormality of the immune system	1584	CYP11B1	ORPHA:90795
HP:0002715	Abnormality of the immune system	2255	FGF10	ORPHA:2363
HP:0002715	Abnormality of the immune system	2296	FOXC1	ORPHA:250923
HP:0002715	Abnormality of the immune system	54765	TRIM44	ORPHA:250923
HP:0002715	Abnormality of the immune system	55699	IARS2	OMIM:616007
HP:0002715	Abnormality of the immune system	29926	GMPPA	ORPHA:869
HP:0002715	Abnormality of the immune system	8086	AAAS	ORPHA:869
HP:0002715	Abnormality of the immune system	4081	MAB21L1	OMIM:618479
HP:0002715	Abnormality of the immune system	4081	MAB21L1	ORPHA:495875
HP:0002715	Abnormality of the immune system	4547	MTTP	ORPHA:14
HP:0002715	Abnormality of the immune system	4069	LYZ	OMIM:620658
HP:0002715	Abnormality of the immune system	2200	FBN1	OMIM:616914
HP:0002715	Abnormality of the immune system	54820	NDE1	ORPHA:2177
HP:0002715	Abnormality of the immune system	732	C8B	OMIM:613789
HP:0002715	Abnormality of the immune system	10466	COG5	ORPHA:263487
HP:0002715	Abnormality of the immune system	2632	GBE1	OMIM:232500
HP:0002715	Abnormality of the immune system	55823	VPS11	ORPHA:466934
HP:0002715	Abnormality of the immune system	3074	HEXB	OMIM:268800
HP:0002715	Abnormality of the immune system	3074	HEXB	ORPHA:309155
HP:0002715	Abnormality of the immune system	2122	MECOM	OMIM:616738
HP:0002715	Abnormality of the immune system	5476	CTSA	OMIM:256540
HP:0002715	Abnormality of the immune system	9371	KIF3B	OMIM:618955
HP:0002715	Abnormality of the immune system	2193	FARSA	OMIM:619013
HP:0002715	Abnormality of the immune system	5194	PEX13	OMIM:614885
HP:0002715	Abnormality of the immune system	1513	CTSK	ORPHA:763
HP:0002715	Abnormality of the immune system	59335	PRDM12	OMIM:616488
HP:0002715	Abnormality of the immune system	113189	CHST14	OMIM:601776
HP:0002715	Abnormality of the immune system	113189	CHST14	ORPHA:2953
HP:0002715	Abnormality of the immune system	29940	DSE	ORPHA:2953
HP:0002715	Abnormality of the immune system	26258	BLOC1S6	OMIM:614171
HP:0002715	Abnormality of the immune system	4094	MAF	ORPHA:1272
HP:0002715	Abnormality of the immune system	4094	MAF	OMIM:601088
HP:0002715	Abnormality of the immune system	875	CBS	ORPHA:394
HP:0002715	Abnormality of the immune system	875	CBS	OMIM:236200
HP:0002715	Abnormality of the immune system	593	BCKDHA	OMIM:248600
HP:0002715	Abnormality of the immune system	540	ATP7B	ORPHA:905
HP:0002715	Abnormality of the immune system	11330	CTRC	OMIM:167800
HP:0002715	Abnormality of the immune system	5645	PRSS2	OMIM:167800
HP:0002715	Abnormality of the immune system	5644	PRSS1	OMIM:167800
HP:0002715	Abnormality of the immune system	6690	SPINK1	OMIM:167800
HP:0002715	Abnormality of the immune system	79577	CDC73	ORPHA:143
HP:0002715	Abnormality of the immune system	79577	CDC73	ORPHA:99880
HP:0002715	Abnormality of the immune system	57104	PNPLA2	ORPHA:565612
HP:0002715	Abnormality of the immune system	4722	NDUFS3	OMIM:618230
HP:0002715	Abnormality of the immune system	63924	CIDEC	ORPHA:435651
HP:0002715	Abnormality of the immune system	50940	PDE11A	OMIM:610475
HP:0002715	Abnormality of the immune system	10273	STUB1	ORPHA:412057
HP:0002715	Abnormality of the immune system	133686	NADK2	ORPHA:431361
HP:0002715	Abnormality of the immune system	2538	G6PC1	OMIM:232200
HP:0002715	Abnormality of the immune system	26007	TKFC	OMIM:618805
HP:0002715	Abnormality of the immune system	5468	PPARG	ORPHA:79083
HP:0002715	Abnormality of the immune system	1175	AP2S1	OMIM:600740
HP:0002715	Abnormality of the immune system	9054	NFS1	OMIM:619386
HP:0002715	Abnormality of the immune system	64788	LMF1	OMIM:246650
HP:0002715	Abnormality of the immune system	344	APOC2	OMIM:207750
HP:0002715	Abnormality of the immune system	846	CASR	OMIM:145980
HP:0002715	Abnormality of the immune system	2767	GNA11	OMIM:145981
HP:0002715	Abnormality of the immune system	7388	UQCRH	OMIM:620137
HP:0002715	Abnormality of the immune system	338328	GPIHBP1	OMIM:615947
HP:0002715	Abnormality of the immune system	2313	FLI1	ORPHA:370348
HP:0002715	Abnormality of the immune system	90952	ESAM	OMIM:620371
HP:0002715	Abnormality of the immune system	3155	HMGCL	ORPHA:20
HP:0002715	Abnormality of the immune system	3712	IVD	ORPHA:33
HP:0002715	Abnormality of the immune system	286053	NSMCE2	OMIM:617253
HP:0002715	Abnormality of the immune system	2629	GBA1	ORPHA:2072
HP:0002715	Abnormality of the immune system	7490	WT1	ORPHA:3097
HP:0002715	Abnormality of the immune system	8091	HMGA2	ORPHA:94063
HP:0002715	Abnormality of the immune system	1497	CTNS	OMIM:219800
HP:0002715	Abnormality of the immune system	3145	HMBS	OMIM:620704
HP:0002715	Abnormality of the immune system	2539	G6PD	OMIM:300908
HP:0002715	Abnormality of the immune system	55240	STEAP3	OMIM:615234
HP:0002715	Abnormality of the immune system	2720	GLB1	OMIM:230600
HP:0002715	Abnormality of the immune system	2720	GLB1	OMIM:230650
HP:0002715	Abnormality of the immune system	2720	GLB1	OMIM:230500
HP:0002715	Abnormality of the immune system	755	CFAP410	OMIM:602271
HP:0002715	Abnormality of the immune system	148738	HJV	OMIM:602390
HP:0002715	Abnormality of the immune system	80270	HSD3B7	ORPHA:79301
HP:0002715	Abnormality of the immune system	80270	HSD3B7	OMIM:607765
HP:0002715	Abnormality of the immune system	197131	UBR1	OMIM:243800
HP:0002715	Abnormality of the immune system	84936	ZFYVE19	OMIM:619849
HP:0002715	Abnormality of the immune system	10730	YME1L1	OMIM:617302
HP:0002715	Abnormality of the immune system	51473	DCDC2	OMIM:616217
HP:0002715	Abnormality of the immune system	51473	DCDC2	OMIM:617394
HP:0002715	Abnormality of the immune system	60561	RINT1	OMIM:618641
HP:0002715	Abnormality of the immune system	54567	DLL4	OMIM:616589
HP:0002715	Abnormality of the immune system	1716	DGUOK	OMIM:251880
HP:0002715	Abnormality of the immune system	1716	DGUOK	OMIM:617068
HP:0002715	Abnormality of the immune system	2035	EPB41	ORPHA:288
HP:0002715	Abnormality of the immune system	2035	EPB41	OMIM:611804
HP:0002715	Abnormality of the immune system	2995	GYPC	ORPHA:288
HP:0002715	Abnormality of the immune system	6710	SPTB	ORPHA:288
HP:0002715	Abnormality of the immune system	6710	SPTB	ORPHA:822
HP:0002715	Abnormality of the immune system	6710	SPTB	OMIM:616649
HP:0002715	Abnormality of the immune system	6708	SPTA1	ORPHA:288
HP:0002715	Abnormality of the immune system	6708	SPTA1	ORPHA:822
HP:0002715	Abnormality of the immune system	57231	SNX14	OMIM:616354
HP:0002715	Abnormality of the immune system	2623	GATA1	OMIM:314050
HP:0002715	Abnormality of the immune system	2623	GATA1	ORPHA:231393
HP:0002715	Abnormality of the immune system	2623	GATA1	ORPHA:79277
HP:0002715	Abnormality of the immune system	1371	CPOX	OMIM:618892
HP:0002715	Abnormality of the immune system	1371	CPOX	OMIM:121300
HP:0002715	Abnormality of the immune system	80739	MPIG6B	OMIM:617441
HP:0002715	Abnormality of the immune system	4645	MYO5B	OMIM:619868
HP:0002715	Abnormality of the immune system	3039	HBA1	ORPHA:163596
HP:0002715	Abnormality of the immune system	3039	HBA1	OMIM:613978
HP:0002715	Abnormality of the immune system	3040	HBA2	ORPHA:163596
HP:0002715	Abnormality of the immune system	3040	HBA2	OMIM:613978
HP:0002715	Abnormality of the immune system	10019	SH2B3	OMIM:133100
HP:0002715	Abnormality of the immune system	10019	SH2B3	ORPHA:3318
HP:0002715	Abnormality of the immune system	10019	SH2B3	OMIM:187950
HP:0002715	Abnormality of the immune system	10019	SH2B3	OMIM:254450
HP:0002715	Abnormality of the immune system	2057	EPOR	OMIM:133100
HP:0002715	Abnormality of the immune system	1594	CYP27B1	ORPHA:289157
HP:0002715	Abnormality of the immune system	120227	CYP2R1	ORPHA:289157
HP:0002715	Abnormality of the immune system	286	ANK1	ORPHA:251066
HP:0002715	Abnormality of the immune system	286	ANK1	OMIM:182900
HP:0002715	Abnormality of the immune system	286	ANK1	ORPHA:822
HP:0002715	Abnormality of the immune system	285362	SUMF1	OMIM:272200
HP:0002715	Abnormality of the immune system	285362	SUMF1	ORPHA:585
HP:0002715	Abnormality of the immune system	2239	GPC4	ORPHA:373
HP:0002715	Abnormality of the immune system	2239	GPC4	OMIM:312870
HP:0002715	Abnormality of the immune system	2153	F5	ORPHA:131
HP:0002715	Abnormality of the immune system	5286	PIK3C2A	OMIM:618440
HP:0002715	Abnormality of the immune system	4851	NOTCH1	OMIM:616028
HP:0002715	Abnormality of the immune system	654	BMP6	ORPHA:465508
HP:0002715	Abnormality of the immune system	54532	USP53	OMIM:619658
HP:0002715	Abnormality of the immune system	2184	FAH	OMIM:276700
HP:0002715	Abnormality of the immune system	2184	FAH	ORPHA:882
HP:0002715	Abnormality of the immune system	5825	ABCD3	OMIM:616278
HP:0002715	Abnormality of the immune system	65992	DDRGK1	OMIM:602557
HP:0002715	Abnormality of the immune system	6448	SGSH	OMIM:252900
HP:0002715	Abnormality of the immune system	4023	LPL	OMIM:238600
HP:0002715	Abnormality of the immune system	5009	OTC	ORPHA:664
HP:0002715	Abnormality of the immune system	58484	NLRC4	OMIM:616050
HP:0002715	Abnormality of the immune system	55503	TRPV6	ORPHA:417
HP:0002715	Abnormality of the immune system	23218	NBEAL2	OMIM:139090
HP:0002715	Abnormality of the immune system	23218	NBEAL2	ORPHA:721
HP:0002715	Abnormality of the immune system	3756	KCNH1	OMIM:135500
HP:0002715	Abnormality of the immune system	3756	KCNH1	ORPHA:3473
HP:0002715	Abnormality of the immune system	6718	AKR1D1	OMIM:235555
HP:0002715	Abnormality of the immune system	4864	NPC1	OMIM:257220
HP:0002715	Abnormality of the immune system	7389	UROD	ORPHA:95159
HP:0002715	Abnormality of the immune system	212	ALAS2	ORPHA:75563
HP:0002715	Abnormality of the immune system	55630	SLC39A4	OMIM:201100
HP:0002715	Abnormality of the immune system	6007	RHD	OMIM:619462
HP:0002715	Abnormality of the immune system	650	BMP2	OMIM:235200
HP:0002715	Abnormality of the immune system	7504	XK	OMIM:300842
HP:0002715	Abnormality of the immune system	60468	BACH2	OMIM:618394
HP:0002715	Abnormality of the immune system	226	ALDOA	OMIM:611881
HP:0002715	Abnormality of the immune system	3988	LIPA	ORPHA:75233
HP:0002715	Abnormality of the immune system	3988	LIPA	ORPHA:75234
HP:0002715	Abnormality of the immune system	3988	LIPA	OMIM:620151
HP:0002715	Abnormality of the immune system	3988	LIPA	OMIM:278000
HP:0002715	Abnormality of the immune system	5264	PHYH	ORPHA:773
HP:0002715	Abnormality of the immune system	5191	PEX7	ORPHA:773
HP:0002715	Abnormality of the immune system	7390	UROS	OMIM:263700
HP:0002715	Abnormality of the immune system	7390	UROS	ORPHA:79277
HP:0002715	Abnormality of the immune system	3295	HSD17B4	OMIM:261515
HP:0002715	Abnormality of the immune system	138050	HGSNAT	OMIM:252930
HP:0002715	Abnormality of the immune system	5313	PKLR	ORPHA:766
HP:0002715	Abnormality of the immune system	5313	PKLR	OMIM:266200
HP:0002715	Abnormality of the immune system	25	ABL1	ORPHA:521
HP:0002715	Abnormality of the immune system	51626	DYNC2LI1	OMIM:617088
HP:0002715	Abnormality of the immune system	146059	CDAN1	OMIM:224120
HP:0002715	Abnormality of the immune system	4669	NAGLU	OMIM:252920
HP:0002715	Abnormality of the immune system	26276	VPS33B	OMIM:620010
HP:0002715	Abnormality of the immune system	7066	THPO	ORPHA:71493
HP:0002715	Abnormality of the immune system	7066	THPO	OMIM:187950
HP:0002715	Abnormality of the immune system	6521	SLC4A1	OMIM:185020
HP:0002715	Abnormality of the immune system	6521	SLC4A1	ORPHA:822
HP:0002715	Abnormality of the immune system	6521	SLC4A1	OMIM:612653
HP:0002715	Abnormality of the immune system	6521	SLC4A1	ORPHA:3202
HP:0002715	Abnormality of the immune system	55532	SLC30A10	ORPHA:309854
HP:0002715	Abnormality of the immune system	4758	NEU1	OMIM:256550
HP:0002715	Abnormality of the immune system	4758	NEU1	ORPHA:812
HP:0002715	Abnormality of the immune system	1352	COX10	OMIM:619046
HP:0002715	Abnormality of the immune system	2533	FYB1	OMIM:273900
HP:0002715	Abnormality of the immune system	6005	RHAG	OMIM:185000
HP:0002715	Abnormality of the immune system	6005	RHAG	ORPHA:3203
HP:0002715	Abnormality of the immune system	348	APOE	OMIM:269600
HP:0002715	Abnormality of the immune system	348	APOE	ORPHA:158029
HP:0002715	Abnormality of the immune system	8792	TNFRSF11A	OMIM:612301
HP:0002715	Abnormality of the immune system	10555	AGPAT2	OMIM:608594
HP:0002715	Abnormality of the immune system	23230	VPS13A	ORPHA:2388
HP:0002715	Abnormality of the immune system	526	ATP6V1B2	ORPHA:3473
HP:0002715	Abnormality of the immune system	3782	KCNN3	ORPHA:3473
HP:0002715	Abnormality of the immune system	80216	ALPK1	OMIM:614979
HP:0002715	Abnormality of the immune system	3055	HCK	OMIM:620296
HP:0002715	Abnormality of the immune system	2243	FGA	OMIM:105200
HP:0002715	Abnormality of the immune system	5828	PEX2	OMIM:614866
HP:0002715	Abnormality of the immune system	6288	SAA1	ORPHA:85445
HP:0002715	Abnormality of the immune system	8813	DPM1	OMIM:608799
HP:0002715	Abnormality of the immune system	50628	GEMIN4	OMIM:617913
HP:0002715	Abnormality of the immune system	57817	HAMP	OMIM:613313
HP:0002715	Abnormality of the immune system	84317	CCDC115	OMIM:616828
HP:0002715	Abnormality of the immune system	64241	ABCG8	OMIM:210250
HP:0002715	Abnormality of the immune system	64241	ABCG8	ORPHA:2882
HP:0002715	Abnormality of the immune system	93183	PIGM	OMIM:610293
HP:0002715	Abnormality of the immune system	57410	SCYL1	OMIM:616719
HP:0002715	Abnormality of the immune system	84529	CDIN1	OMIM:615631
HP:0002715	Abnormality of the immune system	11133	KPTN	OMIM:615637
HP:0002715	Abnormality of the immune system	669	BPGM	OMIM:222800
HP:0002715	Abnormality of the immune system	91147	TMEM67	OMIM:216360
HP:0002715	Abnormality of the immune system	91147	TMEM67	ORPHA:1454
HP:0002715	Abnormality of the immune system	9076	CLDN1	ORPHA:59303
HP:0002715	Abnormality of the immune system	9076	CLDN1	OMIM:607626
HP:0002715	Abnormality of the immune system	51218	GLRX5	OMIM:616860
HP:0002715	Abnormality of the immune system	2821	GPI	OMIM:613470
HP:0002715	Abnormality of the immune system	6663	SOX10	ORPHA:163746
HP:0002715	Abnormality of the immune system	56623	INPP5E	ORPHA:1454
HP:0002715	Abnormality of the immune system	23322	RPGRIP1L	ORPHA:1454
HP:0002715	Abnormality of the immune system	57545	CC2D2A	ORPHA:1454
HP:0002715	Abnormality of the immune system	2328	FMO3	OMIM:602079
HP:0002715	Abnormality of the immune system	10367	MICU1	OMIM:615673
HP:0002715	Abnormality of the immune system	26580	BSCL2	OMIM:269700
HP:0002715	Abnormality of the immune system	1718	DHCR24	ORPHA:35107
HP:0002715	Abnormality of the immune system	27031	NPHP3	OMIM:208540
HP:0002715	Abnormality of the immune system	3098	HK1	OMIM:235700
HP:0002715	Abnormality of the immune system	100506658	OCLN	OMIM:251290
HP:0002715	Abnormality of the immune system	64240	ABCG5	ORPHA:2882
HP:0002715	Abnormality of the immune system	10577	NPC2	OMIM:607625
HP:0002715	Abnormality of the immune system	2819	GPD1	OMIM:614480
HP:0002715	Abnormality of the immune system	26503	SLC17A5	OMIM:269920
HP:0002715	Abnormality of the immune system	4724	NDUFS4	OMIM:252010
HP:0002715	Abnormality of the immune system	139886	SPIN4	OMIM:301114
HP:0002715	Abnormality of the immune system	10464	PIBF1	OMIM:617767
HP:0002715	Abnormality of the immune system	284086	NEK8	OMIM:615415
HP:0002715	Abnormality of the immune system	7473	WNT3	OMIM:273395
HP:0002715	Abnormality of the immune system	90416	CCDC32	OMIM:619123
HP:0002715	Abnormality of the immune system	7291	TWIST1	OMIM:617746
HP:0002715	Abnormality of the immune system	3921	RPSA	OMIM:271400
HP:0002715	Abnormality of the immune system	63901	FAM111A	OMIM:602361
HP:0002715	Abnormality of the immune system	745	MYRF	OMIM:618280
HP:0002715	Abnormality of the immune system	157570	ESCO2	OMIM:268300
HP:0002715	Abnormality of the immune system	84314	TMEM107	ORPHA:564
HP:0002715	Abnormality of the immune system	79867	TCTN2	ORPHA:564
HP:0002715	Abnormality of the immune system	80776	B9D2	ORPHA:564
HP:0002715	Abnormality of the immune system	79600	TCTN1	ORPHA:564
HP:0002715	Abnormality of the immune system	57096	RPGRIP1	ORPHA:564
HP:0002715	Abnormality of the immune system	51259	TMEM216	ORPHA:564
HP:0002715	Abnormality of the immune system	79583	TMEM231	ORPHA:564
HP:0002715	Abnormality of the immune system	79770	TXNDC15	ORPHA:564
HP:0002715	Abnormality of the immune system	27077	B9D1	ORPHA:564
HP:0002715	Abnormality of the immune system	65062	TMEM237	ORPHA:564
HP:0002715	Abnormality of the immune system	55012	PPP2R3C	OMIM:618419
HP:0002715	Abnormality of the immune system	55770	EXOC2	OMIM:619306
HP:0002715	Abnormality of the immune system	1063	CENPF	OMIM:243605
HP:0002715	Abnormality of the immune system	219844	HYLS1	OMIM:236680
HP:0002715	Abnormality of the immune system	7547	ZIC3	OMIM:306955
HP:0002715	Abnormality of the immune system	2657	GDF1	OMIM:208530
HP:0002715	Abnormality of the immune system	118856	MMP21	OMIM:616749
HP:0002715	Abnormality of the immune system	51715	RAB23	OMIM:201000
HP:0002715	Abnormality of the immune system	51715	RAB23	ORPHA:65759
HP:0002715	Abnormality of the immune system	1954	MEGF8	ORPHA:65759
HP:0002715	Abnormality of the immune system	55997	CFC1	OMIM:605376
HP:0002715	Abnormality of the immune system	23241	PACS2	OMIM:618067
HP:0002715	Abnormality of the immune system	4552	MTRR	ORPHA:2169
HP:0002715	Abnormality of the immune system	112812	FDX2	OMIM:251900
HP:0002715	Abnormality of the immune system	5826	ABCD4	OMIM:614857
HP:0002715	Abnormality of the immune system	4548	MTR	OMIM:250940
HP:0002715	Abnormality of the immune system	326625	MMAB	OMIM:251110
HP:0002715	Abnormality of the immune system	9997	SCO2	OMIM:604377
HP:0002715	Abnormality of the immune system	148867	SLC30A7	OMIM:620501
HP:0002715	Abnormality of the immune system	166785	MMAA	OMIM:251100
HP:0002715	Abnormality of the immune system	150274	HSCB	OMIM:619523
HP:0002715	Abnormality of the immune system	2937	GSS	OMIM:266130
HP:0002715	Abnormality of the immune system	51567	TDP2	OMIM:616949
HP:0002715	Abnormality of the immune system	27429	HTRA2	OMIM:617248
HP:0002715	Abnormality of the immune system	5052	PRDX1	OMIM:277400
HP:0002715	Abnormality of the immune system	3930	LBR	ORPHA:1426
HP:0002715	Abnormality of the immune system	128	ADH5	OMIM:619151
HP:0002715	Abnormality of the immune system	6165	RPL35A	OMIM:612528
HP:0002715	Abnormality of the immune system	6165	RPL35A	ORPHA:124
HP:0002715	Abnormality of the immune system	55593	OTUD5	OMIM:301056
HP:0002715	Abnormality of the immune system	157680	VPS13B	OMIM:216550
HP:0002715	Abnormality of the immune system	375748	ERCC6L2	OMIM:615715
HP:0002715	Abnormality of the immune system	3516	RBPJ	ORPHA:974
HP:0002715	Abnormality of the immune system	57514	ARHGAP31	ORPHA:974
HP:0002715	Abnormality of the immune system	57572	DOCK6	ORPHA:974
HP:0002715	Abnormality of the immune system	285203	EOGT	ORPHA:974
HP:0002715	Abnormality of the immune system	23479	ISCU	OMIM:255125
HP:0002715	Abnormality of the immune system	6138	RPL15	ORPHA:124
HP:0002715	Abnormality of the immune system	6224	RPS20	ORPHA:124
HP:0002715	Abnormality of the immune system	6132	RPL8	ORPHA:124
HP:0002715	Abnormality of the immune system	6223	RPS19	ORPHA:124
HP:0002715	Abnormality of the immune system	6232	RPS27	ORPHA:124
HP:0002715	Abnormality of the immune system	55027	HEATR3	ORPHA:124
HP:0002715	Abnormality of the immune system	6160	RPL31	ORPHA:124
HP:0002715	Abnormality of the immune system	6201	RPS7	ORPHA:124
HP:0002715	Abnormality of the immune system	6155	RPL27	ORPHA:124
HP:0002715	Abnormality of the immune system	6234	RPS28	ORPHA:124
HP:0002715	Abnormality of the immune system	6229	RPS24	ORPHA:124
HP:0002715	Abnormality of the immune system	6125	RPL5	ORPHA:124
HP:0002715	Abnormality of the immune system	6204	RPS10	ORPHA:124
HP:0002715	Abnormality of the immune system	6133	RPL9	ORPHA:124
HP:0002715	Abnormality of the immune system	6231	RPS26	ORPHA:124
HP:0002715	Abnormality of the immune system	11224	RPL35	ORPHA:124
HP:0002715	Abnormality of the immune system	6218	RPS17	ORPHA:124
HP:0002715	Abnormality of the immune system	6154	RPL26	ORPHA:124
HP:0002715	Abnormality of the immune system	6210	RPS15A	ORPHA:124
HP:0002715	Abnormality of the immune system	90121	TSR2	ORPHA:124
HP:0002715	Abnormality of the immune system	6141	RPL18	ORPHA:124
HP:0002715	Abnormality of the immune system	6235	RPS29	ORPHA:124
HP:0002715	Abnormality of the immune system	54938	SARS2	OMIM:613845
HP:0002715	Abnormality of the immune system	22948	CCT5	OMIM:256840
HP:0002715	Abnormality of the immune system	22948	CCT5	ORPHA:139578
HP:0002715	Abnormality of the immune system	7879	RAB7A	OMIM:600882
HP:0002715	Abnormality of the immune system	54892	NCAPG2	OMIM:618460
HP:0002715	Abnormality of the immune system	80185	TTI2	ORPHA:391307
HP:0002715	Abnormality of the immune system	8879	SGPL1	OMIM:617575
HP:0002715	Abnormality of the immune system	7036	TFR2	OMIM:604250
HP:0002715	Abnormality of the immune system	92345	NAF1	OMIM:620365
HP:0002715	Abnormality of the immune system	4683	NBN	OMIM:251260
HP:0002715	Abnormality of the immune system	4683	NBN	ORPHA:647
HP:0002715	Abnormality of the immune system	22861	NLRP1	OMIM:617388
HP:0002715	Abnormality of the immune system	868	CBLB	OMIM:620430
HP:0002715	Abnormality of the immune system	139818	DOCK11	OMIM:301109
HP:0002715	Abnormality of the immune system	4733	DRG1	OMIM:620641
HP:0002715	Abnormality of the immune system	51311	TLR8	OMIM:301078
HP:0002715	Abnormality of the immune system	56984	PSMG2	OMIM:619183
HP:0002715	Abnormality of the immune system	10125	RASGRP1	OMIM:618534
HP:0002715	Abnormality of the immune system	8294	H4C9	OMIM:619951
HP:0002715	Abnormality of the immune system	5925	RB1	OMIM:180200
HP:0002715	Abnormality of the immune system	4292	MLH1	OMIM:276300
HP:0002715	Abnormality of the immune system	4193	MDM2	ORPHA:524
HP:0002715	Abnormality of the immune system	11200	CHEK2	ORPHA:524
HP:0002715	Abnormality of the immune system	23476	BRD4	ORPHA:443167
HP:0002715	Abnormality of the immune system	256646	NUTM1	ORPHA:443167
HP:0002715	Abnormality of the immune system	51099	ABHD5	ORPHA:98907
HP:0002715	Abnormality of the immune system	5538	PPT1	OMIM:256730
HP:0002715	Abnormality of the immune system	1203	CLN5	OMIM:256731
HP:0002715	Abnormality of the immune system	1201	CLN3	OMIM:204200
HP:0002715	Abnormality of the immune system	7289	TULP3	OMIM:619902
HP:0002715	Abnormality of the immune system	51284	TLR7	OMIM:301080
HP:0002715	Abnormality of the immune system	56259	CTNNBL1	OMIM:619846
HP:0002715	Abnormality of the immune system	6609	SMPD1	ORPHA:77293
HP:0002715	Abnormality of the immune system	8651	SOCS1	OMIM:619375
HP:0002715	Abnormality of the immune system	2581	GALC	OMIM:245200
HP:0002715	Abnormality of the immune system	9138	ARHGEF1	OMIM:618459
HP:0002715	Abnormality of the immune system	8085	KMT2D	OMIM:147920
HP:0002715	Abnormality of the immune system	7403	KDM6A	OMIM:147920
HP:0002715	Abnormality of the immune system	27178	IL37	OMIM:619398
HP:0002715	Abnormality of the immune system	8882	ZPR1	OMIM:619321
HP:0002715	Abnormality of the immune system	22852	ANKRD26	OMIM:188000
HP:0002715	Abnormality of the immune system	57167	SALL4	ORPHA:2307
HP:0002715	Abnormality of the immune system	57167	SALL4	OMIM:147750
HP:0002715	Abnormality of the immune system	38	ACAT1	ORPHA:134
HP:0002715	Abnormality of the immune system	57680	CHD8	OMIM:615032
HP:0002715	Abnormality of the immune system	5243	ABCB1	OMIM:612244
HP:0002715	Abnormality of the immune system	3257	HPS1	OMIM:203300
HP:0002715	Abnormality of the immune system	2165	F13B	ORPHA:331
HP:0002715	Abnormality of the immune system	2162	F13A1	ORPHA:331
HP:0002715	Abnormality of the immune system	345611	IRGM	OMIM:612278
HP:0002715	Abnormality of the immune system	2395	FXN	ORPHA:95
HP:0002715	Abnormality of the immune system	57190	SELENON	ORPHA:97244
HP:0002715	Abnormality of the immune system	58	ACTA1	ORPHA:97244
HP:0002715	Abnormality of the immune system	411	ARSB	OMIM:253200
HP:0002715	Abnormality of the immune system	10559	SLC35A1	ORPHA:238459
HP:0002715	Abnormality of the immune system	2188	FANCF	OMIM:603467
HP:0002715	Abnormality of the immune system	6445	SGCG	OMIM:253700
HP:0002715	Abnormality of the immune system	5277	PIGA	OMIM:300868
HP:0002715	Abnormality of the immune system	27019	DNAI1	OMIM:244400
HP:0002715	Abnormality of the immune system	4534	MTM1	ORPHA:596
HP:0002715	Abnormality of the immune system	7092	TLL1	ORPHA:99103
HP:0002715	Abnormality of the immune system	57057	TBX20	ORPHA:99103
HP:0002715	Abnormality of the immune system	4624	MYH6	ORPHA:99103
HP:0002715	Abnormality of the immune system	1482	NKX2-5	ORPHA:99103
HP:0002715	Abnormality of the immune system	70	ACTC1	ORPHA:99103
HP:0002715	Abnormality of the immune system	10370	CITED2	ORPHA:99103
HP:0002715	Abnormality of the immune system	2626	GATA4	ORPHA:99103
HP:0002715	Abnormality of the immune system	2627	GATA6	ORPHA:99103
HP:0002715	Abnormality of the immune system	28962	OSTM1	ORPHA:85179
HP:0002715	Abnormality of the immune system	64446	DNAI2	OMIM:612444
HP:0002715	Abnormality of the immune system	11128	POLR3A	OMIM:264090
HP:0002715	Abnormality of the immune system	629	CFB	OMIM:615561
HP:0002715	Abnormality of the immune system	5966	REL	OMIM:619652
HP:0002715	Abnormality of the immune system	6261	RYR1	ORPHA:98905
HP:0002715	Abnormality of the immune system	37	ACADVL	ORPHA:26793
HP:0002715	Abnormality of the immune system	345643	MCIDAS	OMIM:618695
HP:0002715	Abnormality of the immune system	4054	LTBP3	OMIM:617809
HP:0002715	Abnormality of the immune system	2811	GP1BA	ORPHA:274
HP:0002715	Abnormality of the immune system	2815	GP9	ORPHA:274
HP:0002715	Abnormality of the immune system	91754	NEK9	OMIM:614262
HP:0002715	Abnormality of the immune system	240	ALOX5	OMIM:600807
HP:0002715	Abnormality of the immune system	6356	CCL11	OMIM:600807
HP:0002715	Abnormality of the immune system	7124	TNF	OMIM:600807
HP:0002715	Abnormality of the immune system	3176	HNMT	OMIM:600807
HP:0002715	Abnormality of the immune system	4589	MUC7	OMIM:600807
HP:0002715	Abnormality of the immune system	117156	SCGB3A2	OMIM:600807
HP:0002715	Abnormality of the immune system	3135	HLA-G	OMIM:600807
HP:0002715	Abnormality of the immune system	3596	IL13	OMIM:600807
HP:0002715	Abnormality of the immune system	90459	ERI1	OMIM:620663
HP:0002715	Abnormality of the immune system	79796	ALG9	OMIM:608776
HP:0002715	Abnormality of the immune system	79796	ALG9	ORPHA:79328
HP:0002715	Abnormality of the immune system	10999	SLC27A4	OMIM:608649
HP:0002715	Abnormality of the immune system	27125	AFF4	ORPHA:444077
HP:0002715	Abnormality of the immune system	9578	CDC42BPB	OMIM:619841
HP:0002715	Abnormality of the immune system	4010	LMX1B	ORPHA:495818
HP:0002715	Abnormality of the immune system	6812	STXBP1	ORPHA:495818
HP:0002715	Abnormality of the immune system	2782	GNB1	OMIM:616973
HP:0002715	Abnormality of the immune system	841	CASP8	OMIM:607271
HP:0002715	Abnormality of the immune system	4953	ODC1	ORPHA:544488
HP:0002715	Abnormality of the immune system	3716	JAK1	OMIM:618999
HP:0002715	Abnormality of the immune system	2260	FGFR1	ORPHA:280200
HP:0002715	Abnormality of the immune system	28514	DLL1	ORPHA:280200
HP:0002715	Abnormality of the immune system	2253	FGF8	ORPHA:280200
HP:0002715	Abnormality of the immune system	6496	SIX3	ORPHA:280200
HP:0002715	Abnormality of the immune system	7050	TGIF1	ORPHA:280200
HP:0002715	Abnormality of the immune system	4838	NODAL	ORPHA:280200
HP:0002715	Abnormality of the immune system	6469	SHH	ORPHA:280200
HP:0002715	Abnormality of the immune system	51684	SUFU	ORPHA:280200
HP:0002715	Abnormality of the immune system	7546	ZIC2	ORPHA:280200
HP:0002715	Abnormality of the immune system	2619	GAS1	ORPHA:280200
HP:0002715	Abnormality of the immune system	84976	DISP1	ORPHA:280200
HP:0002715	Abnormality of the immune system	2736	GLI2	ORPHA:280200
HP:0002715	Abnormality of the immune system	8928	FOXH1	ORPHA:280200
HP:0002715	Abnormality of the immune system	6997	CRIPTO	ORPHA:280200
HP:0002715	Abnormality of the immune system	5727	PTCH1	ORPHA:280200
HP:0002715	Abnormality of the immune system	50937	CDON	ORPHA:280200
HP:0002715	Abnormality of the immune system	7040	TGFB1	OMIM:219700
HP:0002715	Abnormality of the immune system	7040	TGFB1	ORPHA:586
HP:0002715	Abnormality of the immune system	57589	RIC1	OMIM:618761
HP:0002715	Abnormality of the immune system	84100	ARL6	OMIM:209900
HP:0002715	Abnormality of the immune system	84100	ARL6	ORPHA:110
HP:0002715	Abnormality of the immune system	79140	CCDC28B	OMIM:209900
HP:0002715	Abnormality of the immune system	582	BBS1	OMIM:209900
HP:0002715	Abnormality of the immune system	582	BBS1	ORPHA:110
HP:0002715	Abnormality of the immune system	7840	ALMS1	OMIM:203800
HP:0002715	Abnormality of the immune system	7080	NKX2-1	ORPHA:209905
HP:0002715	Abnormality of the immune system	7080	NKX2-1	OMIM:610978
HP:0002715	Abnormality of the immune system	146206	CARMIL2	OMIM:618131
HP:0002715	Abnormality of the immune system	2475	MTOR	ORPHA:457485
HP:0002715	Abnormality of the immune system	93627	TBCK	ORPHA:488632
HP:0002715	Abnormality of the immune system	2783	GNB2	OMIM:619503
HP:0002715	Abnormality of the immune system	6785	ELOVL4	OMIM:614457
HP:0002715	Abnormality of the immune system	84701	COX4I2	OMIM:612714
HP:0002715	Abnormality of the immune system	64864	RFX7	OMIM:620330
HP:0002715	Abnormality of the immune system	26160	IFT172	OMIM:619471
HP:0002715	Abnormality of the immune system	26160	IFT172	ORPHA:110
HP:0002715	Abnormality of the immune system	92482	BBIP1	ORPHA:110
HP:0002715	Abnormality of the immune system	80184	CEP290	ORPHA:110
HP:0002715	Abnormality of the immune system	11020	IFT27	ORPHA:110
HP:0002715	Abnormality of the immune system	49855	SCAPER	ORPHA:110
HP:0002715	Abnormality of the immune system	4867	NPHP1	ORPHA:110
HP:0002715	Abnormality of the immune system	51057	WDPCP	ORPHA:110
HP:0002715	Abnormality of the immune system	132320	SCLT1	ORPHA:110
HP:0002715	Abnormality of the immune system	27241	BBS9	ORPHA:110
HP:0002715	Abnormality of the immune system	84984	CEP19	ORPHA:110
HP:0002715	Abnormality of the immune system	22954	TRIM32	ORPHA:110
HP:0002715	Abnormality of the immune system	54903	MKS1	ORPHA:110
HP:0002715	Abnormality of the immune system	79738	BBS10	ORPHA:110
HP:0002715	Abnormality of the immune system	123016	TTC8	ORPHA:110
HP:0002715	Abnormality of the immune system	583	BBS2	ORPHA:110
HP:0002715	Abnormality of the immune system	585	BBS4	ORPHA:110
HP:0002715	Abnormality of the immune system	8195	MKKS	ORPHA:110
HP:0002715	Abnormality of the immune system	54585	LZTFL1	ORPHA:110
HP:0002715	Abnormality of the immune system	55212	BBS7	ORPHA:110
HP:0002715	Abnormality of the immune system	166379	BBS12	ORPHA:110
HP:0002715	Abnormality of the immune system	10806	SDCCAG8	ORPHA:110
HP:0002715	Abnormality of the immune system	157657	CFAP418	ORPHA:110
HP:0002715	Abnormality of the immune system	129880	BBS5	ORPHA:110
HP:0002715	Abnormality of the immune system	80173	IFT74	ORPHA:110
HP:0002715	Abnormality of the immune system	30009	TBX21	OMIM:619630
HP:0002715	Abnormality of the immune system	30009	TBX21	OMIM:208550
HP:0002715	Abnormality of the immune system	7874	USP7	ORPHA:500055
HP:0002715	Abnormality of the immune system	3572	IL6ST	OMIM:619752
HP:0002715	Abnormality of the immune system	3572	IL6ST	OMIM:619750
HP:0002715	Abnormality of the immune system	29775	CARD10	OMIM:619632
HP:0002715	Abnormality of the immune system	10526	IPO8	OMIM:619472
HP:0002715	Abnormality of the immune system	5732	PTGER2	OMIM:208550
HP:0002715	Abnormality of the immune system	6329	SCN4A	ORPHA:99735
HP:0002715	Abnormality of the immune system	415	ARSL	ORPHA:79345
HP:0002715	Abnormality of the immune system	2312	FLG	OMIM:146700
HP:0002715	Abnormality of the immune system	1041	CDSN	OMIM:270300
HP:0002715	Abnormality of the immune system	93986	FOXP2	ORPHA:251061
HP:0002715	Abnormality of the immune system	6804	STX1A	ORPHA:586
HP:0002715	Abnormality of the immune system	2947	GSTM3	ORPHA:586
HP:0002715	Abnormality of the immune system	2729	GCLC	ORPHA:586
HP:0002715	Abnormality of the immune system	1084	CEACAM3	ORPHA:586
HP:0002715	Abnormality of the immune system	6556	SLC11A1	ORPHA:586
HP:0002715	Abnormality of the immune system	51164	DCTN4	ORPHA:586
HP:0002715	Abnormality of the immune system	3783	KCNN4	ORPHA:586
HP:0002715	Abnormality of the immune system	1909	EDNRA	ORPHA:586
HP:0002715	Abnormality of the immune system	6550	SLC9A3	ORPHA:586
HP:0002715	Abnormality of the immune system	115019	SLC26A9	ORPHA:586
HP:0002715	Abnormality of the immune system	3077	HFE	ORPHA:586
HP:0002715	Abnormality of the immune system	11254	SLC6A14	ORPHA:586
HP:0002715	Abnormality of the immune system	5265	SERPINA1	ORPHA:586
HP:0002715	Abnormality of the immune system	22802	CLCA4	ORPHA:586
HP:0002715	Abnormality of the immune system	4680	CEACAM6	ORPHA:586
HP:0002715	Abnormality of the immune system	5971	RELB	OMIM:617585
HP:0002715	Abnormality of the immune system	10293	TRAIP	OMIM:616777
HP:0002715	Abnormality of the immune system	3481	IGF2	ORPHA:397590
HP:0002715	Abnormality of the immune system	1028	CDKN1C	ORPHA:397590
HP:0002715	Abnormality of the immune system	5324	PLAG1	ORPHA:397590
HP:0002715	Abnormality of the immune system	55717	WDR11	OMIM:620237
HP:0002715	Abnormality of the immune system	10551	AGR2	OMIM:620233
HP:0002715	Abnormality of the immune system	55898	UNC45A	OMIM:619377
HP:0002715	Abnormality of the immune system	79989	IFT56	OMIM:619534
HP:0002715	Abnormality of the immune system	3423	IDS	OMIM:309900
HP:0002715	Abnormality of the immune system	79977	GRHL2	OMIM:616029
HP:0002715	Abnormality of the immune system	2678	GGT1	OMIM:231950
HP:0002715	Abnormality of the immune system	738	VPS51	OMIM:618606
HP:0002715	Abnormality of the immune system	51322	WAC	ORPHA:466950
HP:0002715	Abnormality of the immune system	375056	MIA3	OMIM:619269
HP:0002715	Abnormality of the immune system	721	C4B	OMIM:614379
HP:0002715	Abnormality of the immune system	115948	ODAD3	OMIM:616037
HP:0002715	Abnormality of the immune system	6778	STAT6	OMIM:620532
HP:0002715	Abnormality of the immune system	5830	PEX5	OMIM:616716
HP:0002715	Abnormality of the immune system	4067	LYN	OMIM:620376
HP:0002715	Abnormality of the immune system	6888	TALDO1	OMIM:606003
HP:0002715	Abnormality of the immune system	9898	UBAP2L	OMIM:620494
HP:0002715	Abnormality of the immune system	535	ATP6V0A1	OMIM:619971
HP:0002715	Abnormality of the immune system	4281	MID1	ORPHA:2745
HP:0002715	Abnormality of the immune system	29957	SLC25A24	OMIM:612289
HP:0002715	Abnormality of the immune system	378884	NHLRC1	ORPHA:501
HP:0002715	Abnormality of the immune system	7957	EPM2A	ORPHA:501
HP:0002715	Abnormality of the immune system	4842	NOS1	ORPHA:930
HP:0002715	Abnormality of the immune system	353116	RILPL1	ORPHA:98897
HP:0002715	Abnormality of the immune system	10755	GIPC1	ORPHA:98897
HP:0002715	Abnormality of the immune system	29967	LRP12	ORPHA:98897
HP:0002715	Abnormality of the immune system	100996717	NOTCH2NLC	ORPHA:98897
HP:0002715	Abnormality of the immune system	5393	EXOSC9	OMIM:618065
HP:0002715	Abnormality of the immune system	8518	ELP1	ORPHA:1764
HP:0002715	Abnormality of the immune system	10054	UBA2	OMIM:619959
HP:0002715	Abnormality of the immune system	7360	UGP2	OMIM:618744
HP:0002715	Abnormality of the immune system	128178	EDARADD	OMIM:614941
HP:0002715	Abnormality of the immune system	79848	CSPP1	ORPHA:397715
HP:0002715	Abnormality of the immune system	9786	KIAA0586	ORPHA:397715
HP:0002715	Abnormality of the immune system	5354	PLP1	ORPHA:99015
HP:0002715	Abnormality of the immune system	249	ALPL	OMIM:241500
HP:0002715	Abnormality of the immune system	51506	UFC1	OMIM:618076
HP:0002715	Abnormality of the immune system	283489	CHAMP1	OMIM:616579
HP:0002715	Abnormality of the immune system	25782	RAB3GAP2	OMIM:212720
HP:0002715	Abnormality of the immune system	55768	NGLY1	ORPHA:404454
HP:0002715	Abnormality of the immune system	55768	NGLY1	OMIM:615273
HP:0002715	Abnormality of the immune system	9326	ZNHIT3	ORPHA:2836
HP:0002715	Abnormality of the immune system	64359	NXN	ORPHA:1507
HP:0002715	Abnormality of the immune system	4920	ROR2	ORPHA:1507
HP:0002715	Abnormality of the immune system	100303755	PET117	OMIM:619063
HP:0002715	Abnormality of the immune system	4633	MYL2	ORPHA:2020
HP:0002715	Abnormality of the immune system	3679	ITGA7	ORPHA:2020
HP:0002715	Abnormality of the immune system	7169	TPM2	ORPHA:2020
HP:0002715	Abnormality of the immune system	9200	HACD1	ORPHA:2020
HP:0002715	Abnormality of the immune system	7170	TPM3	ORPHA:2020
HP:0002715	Abnormality of the immune system	51776	MAP3K20	ORPHA:2020
HP:0002715	Abnormality of the immune system	2752	GLUL	OMIM:610015
HP:0002715	Abnormality of the immune system	175	AGA	ORPHA:93
HP:0002715	Abnormality of the immune system	175	AGA	OMIM:208400
HP:0002715	Abnormality of the immune system	113278	SLC52A3	OMIM:211530
HP:0002715	Abnormality of the immune system	10043	TOM1	OMIM:619510
HP:0002715	Abnormality of the immune system	55773	TBC1D23	OMIM:617695
HP:0002715	Abnormality of the immune system	3675	ITGA3	OMIM:614748
HP:0002715	Abnormality of the immune system	9321	TRIP11	OMIM:184260
HP:0002715	Abnormality of the immune system	9772	TMEM94	OMIM:618316
HP:0002715	Abnormality of the immune system	9338	TCEAL1	OMIM:301094
HP:0002715	Abnormality of the immune system	6638	SNRPN	ORPHA:98754
HP:0002715	Abnormality of the immune system	6638	SNRPN	ORPHA:177904
HP:0002715	Abnormality of the immune system	6638	SNRPN	ORPHA:177901
HP:0002715	Abnormality of the immune system	6638	SNRPN	ORPHA:177907
HP:0002715	Abnormality of the immune system	4692	NDN	ORPHA:98754
HP:0002715	Abnormality of the immune system	4692	NDN	ORPHA:177904
HP:0002715	Abnormality of the immune system	4692	NDN	ORPHA:177901
HP:0002715	Abnormality of the immune system	54551	MAGEL2	ORPHA:98754
HP:0002715	Abnormality of the immune system	54551	MAGEL2	OMIM:176270
HP:0002715	Abnormality of the immune system	54551	MAGEL2	ORPHA:177904
HP:0002715	Abnormality of the immune system	54551	MAGEL2	ORPHA:177901
HP:0002715	Abnormality of the immune system	54551	MAGEL2	ORPHA:398069
HP:0002715	Abnormality of the immune system	4948	OCA2	ORPHA:98754
HP:0002715	Abnormality of the immune system	4948	OCA2	ORPHA:177904
HP:0002715	Abnormality of the immune system	4948	OCA2	ORPHA:177901
HP:0002715	Abnormality of the immune system	8242	KDM5C	OMIM:300534
HP:0002715	Abnormality of the immune system	197258	FCSK	OMIM:618324
HP:0002715	Abnormality of the immune system	23219	FBXO28	OMIM:619777
HP:0002715	Abnormality of the immune system	6509	SLC1A4	ORPHA:447997
HP:0002715	Abnormality of the immune system	2000	ELF4	OMIM:301074
HP:0002715	Abnormality of the immune system	51053	GMNN	OMIM:616835
HP:0002715	Abnormality of the immune system	7319	UBE2A	ORPHA:163956
HP:0002715	Abnormality of the immune system	1828	DSG1	OMIM:615508
HP:0002715	Abnormality of the immune system	6792	CDKL5	ORPHA:1934
HP:0002715	Abnormality of the immune system	3736	KCNA1	ORPHA:1934
HP:0002715	Abnormality of the immune system	9091	PIGQ	ORPHA:1934
HP:0002715	Abnormality of the immune system	140679	SLC32A1	ORPHA:1934
HP:0002715	Abnormality of the immune system	2775	GNAO1	ORPHA:1934
HP:0002715	Abnormality of the immune system	81603	TRIM8	ORPHA:1934
HP:0002715	Abnormality of the immune system	2902	GRIN1	ORPHA:1934
HP:0002715	Abnormality of the immune system	79751	SLC25A22	ORPHA:1934
HP:0002715	Abnormality of the immune system	150094	SIK1	ORPHA:1934
HP:0002715	Abnormality of the immune system	8573	CASK	ORPHA:1934
HP:0002715	Abnormality of the immune system	23312	DMXL2	ORPHA:1934
HP:0002715	Abnormality of the immune system	170302	ARX	ORPHA:1934
HP:0002715	Abnormality of the immune system	11284	PNKP	ORPHA:1934
HP:0002715	Abnormality of the immune system	6326	SCN2A	ORPHA:1934
HP:0002715	Abnormality of the immune system	51227	PIGP	ORPHA:1934
HP:0002715	Abnormality of the immune system	6324	SCN1B	ORPHA:1934
HP:0002715	Abnormality of the immune system	4761	NEUROD2	ORPHA:1934
HP:0002715	Abnormality of the immune system	89891	DYNC2I2	OMIM:615633
HP:0002715	Abnormality of the immune system	8818	DPM2	ORPHA:329178
HP:0002715	Abnormality of the immune system	100033413	SNORD116-1	OMIM:176270
HP:0002715	Abnormality of the immune system	8924	HERC2	OMIM:176270
HP:0002715	Abnormality of the immune system	23742	NPAP1	OMIM:176270
HP:0002715	Abnormality of the immune system	338433	SNORD115-1	OMIM:176270
HP:0002715	Abnormality of the immune system	7681	MKRN3	OMIM:176270
HP:0002715	Abnormality of the immune system	145624	PWAR1	OMIM:176270
HP:0002715	Abnormality of the immune system	3653	IPW	OMIM:176270
HP:0002715	Abnormality of the immune system	791114	PWRN1	OMIM:176270
HP:0002715	Abnormality of the immune system	7372	UMPS	ORPHA:30
HP:0002715	Abnormality of the immune system	23114	NFASC	OMIM:618356
HP:0002715	Abnormality of the immune system	6606	SMN1	OMIM:253550
HP:0002715	Abnormality of the immune system	6606	SMN1	OMIM:253300
HP:0002715	Abnormality of the immune system	54014	BRWD1	OMIM:620438
HP:0002715	Abnormality of the immune system	83479	DDX59	OMIM:174300
HP:0002715	Abnormality of the immune system	6492	SIM1	ORPHA:398079
HP:0002715	Abnormality of the immune system	59067	IL21	OMIM:615767
HP:0002715	Abnormality of the immune system	4621	MYH3	OMIM:193700
HP:0002715	Abnormality of the immune system	6335	SCN9A	ORPHA:90026
HP:0002715	Abnormality of the immune system	11280	SCN11A	ORPHA:90026
HP:0002715	Abnormality of the immune system	6336	SCN10A	ORPHA:90026
HP:0002715	Abnormality of the immune system	55764	IFT122	OMIM:218330
HP:0002715	Abnormality of the immune system	7703	PCGF2	OMIM:618371
HP:0002715	Abnormality of the immune system	774	CACNA1B	OMIM:618497
HP:0002715	Abnormality of the immune system	7161	TP73	OMIM:619466
HP:0002715	Abnormality of the immune system	254428	SLC41A1	OMIM:619468
HP:0002715	Abnormality of the immune system	51300	TIMMDC1	OMIM:618251
HP:0002715	Abnormality of the immune system	8802	SUCLG1	ORPHA:17
HP:0002715	Abnormality of the immune system	2517	FUCA1	OMIM:230000
HP:0002715	Abnormality of the immune system	2548	GAA	OMIM:232300
HP:0002715	Abnormality of the immune system	84665	MYPN	ORPHA:75249
HP:0002715	Abnormality of the immune system	2318	FLNC	ORPHA:75249
HP:0002715	Abnormality of the immune system	7139	TNNT2	ORPHA:75249
HP:0002715	Abnormality of the immune system	7137	TNNI3	ORPHA:75249
HP:0002715	Abnormality of the immune system	10112	KIF20A	ORPHA:75249
HP:0002715	Abnormality of the immune system	1836	SLC26A2	ORPHA:628
HP:0002715	Abnormality of the immune system	3636	INPPL1	OMIM:258480
HP:0002715	Abnormality of the immune system	3636	INPPL1	ORPHA:2746
HP:0002715	Abnormality of the immune system	2077	ERF	OMIM:617180
HP:0002715	Abnormality of the immune system	55617	TASP1	OMIM:618950
HP:0002715	Abnormality of the immune system	8239	USP9X	OMIM:300968
HP:0002715	Abnormality of the immune system	51124	IER3IP1	OMIM:614231
HP:0002715	Abnormality of the immune system	57477	SHROOM4	ORPHA:85288
HP:0002715	Abnormality of the immune system	84340	GFM2	OMIM:618397
HP:0002715	Abnormality of the immune system	6911	TBX6	ORPHA:1797
HP:0002715	Abnormality of the immune system	2890	GRIA1	OMIM:619927
HP:0002715	Abnormality of the immune system	60482	SLC5A7	ORPHA:98914
HP:0002715	Abnormality of the immune system	4649	MYO9A	ORPHA:98914
HP:0002715	Abnormality of the immune system	1305	COL13A1	ORPHA:98914
HP:0002715	Abnormality of the immune system	1103	CHAT	ORPHA:98914
HP:0002715	Abnormality of the immune system	6576	SLC25A1	ORPHA:98914
HP:0002715	Abnormality of the immune system	6843	VAMP1	ORPHA:98914
HP:0002715	Abnormality of the immune system	375790	AGRN	ORPHA:98914
HP:0002715	Abnormality of the immune system	127833	SYT2	ORPHA:98914
HP:0002715	Abnormality of the immune system	6572	SLC18A3	ORPHA:98914
HP:0002715	Abnormality of the immune system	6616	SNAP25	ORPHA:98914
HP:0002715	Abnormality of the immune system	1893	ECM1	ORPHA:530
HP:0002715	Abnormality of the immune system	925	CD8A	OMIM:608957
HP:0002715	Abnormality of the immune system	9895	TECPR2	ORPHA:320385
HP:0002715	Abnormality of the immune system	5116	PCNT	ORPHA:2637
HP:0002715	Abnormality of the immune system	5430	POLR2A	OMIM:618603
HP:0002715	Abnormality of the immune system	23522	KAT6B	ORPHA:3047
HP:0002715	Abnormality of the immune system	26123	TCTN3	ORPHA:2753
HP:0002715	Abnormality of the immune system	9897	WASHC5	ORPHA:7
HP:0002715	Abnormality of the immune system	28952	CCDC22	ORPHA:7
HP:0002715	Abnormality of the immune system	57020	VPS35L	ORPHA:7
HP:0002715	Abnormality of the immune system	56896	DPYSL5	ORPHA:7
HP:0002715	Abnormality of the immune system	129285	PPP1R21	OMIM:619383
HP:0002715	Abnormality of the immune system	6892	TAPBP	OMIM:620814
HP:0002715	Abnormality of the immune system	406932	MIR140	OMIM:618618
HP:0002715	Abnormality of the immune system	6891	TAP2	OMIM:620813
HP:0002715	Abnormality of the immune system	25871	NEPRO	OMIM:618853
HP:0002715	Abnormality of the immune system	9325	TRIP4	ORPHA:486815
HP:0002715	Abnormality of the immune system	54968	TMEM70	ORPHA:1194
HP:0002715	Abnormality of the immune system	79944	L2HGDH	ORPHA:79314
HP:0002715	Abnormality of the immune system	5567	PRKACB	ORPHA:289
HP:0002715	Abnormality of the immune system	2735	GLI1	ORPHA:289
HP:0002715	Abnormality of the immune system	2121	EVC	ORPHA:289
HP:0002715	Abnormality of the immune system	132884	EVC2	ORPHA:289
HP:0002715	Abnormality of the immune system	412	STS	ORPHA:281090
HP:0002715	Abnormality of the immune system	7305	TYROBP	ORPHA:2770
HP:0002715	Abnormality of the immune system	54209	TREM2	ORPHA:2770
HP:0002715	Abnormality of the immune system	9487	PIGL	ORPHA:3474
HP:0002715	Abnormality of the immune system	23607	CD2AP	ORPHA:656
HP:0002715	Abnormality of the immune system	9688	NUP93	ORPHA:656
HP:0002715	Abnormality of the immune system	4643	MYO1E	ORPHA:656
HP:0002715	Abnormality of the immune system	64423	INF2	ORPHA:656
HP:0002715	Abnormality of the immune system	26130	GAPVD1	ORPHA:656
HP:0002715	Abnormality of the immune system	51479	ANKFY1	ORPHA:656
HP:0002715	Abnormality of the immune system	54443	ANLN	ORPHA:656
HP:0002715	Abnormality of the immune system	5800	PTPRO	ORPHA:656
HP:0002715	Abnormality of the immune system	286204	CRB2	ORPHA:656
HP:0002715	Abnormality of the immune system	23165	NUP205	ORPHA:656
HP:0002715	Abnormality of the immune system	2013	EMP2	ORPHA:656
HP:0002715	Abnormality of the immune system	79023	NUP37	ORPHA:656
HP:0002715	Abnormality of the immune system	51196	PLCE1	ORPHA:656
HP:0002715	Abnormality of the immune system	79902	NUP85	ORPHA:656
HP:0002715	Abnormality of the immune system	396	ARHGDIA	ORPHA:656
HP:0002715	Abnormality of the immune system	79934	COQ8B	ORPHA:656
HP:0002715	Abnormality of the immune system	23279	NUP160	ORPHA:656
HP:0002715	Abnormality of the immune system	9863	MAGI2	ORPHA:656
HP:0002715	Abnormality of the immune system	81	ACTN4	ORPHA:656
HP:0002715	Abnormality of the immune system	7225	TRPC6	ORPHA:656
HP:0002715	Abnormality of the immune system	8542	APOL1	ORPHA:656
HP:0002715	Abnormality of the immune system	54885	TBC1D8B	ORPHA:656
HP:0002715	Abnormality of the immune system	7827	NPHS2	ORPHA:656
HP:0002715	Abnormality of the immune system	83478	ARHGAP24	ORPHA:656
HP:0002715	Abnormality of the immune system	23500	DAAM2	ORPHA:656
HP:0002715	Abnormality of the immune system	5076	PAX2	ORPHA:656
HP:0002715	Abnormality of the immune system	23314	SATB2	ORPHA:576283
HP:0002715	Abnormality of the immune system	9968	MED12	OMIM:301068
HP:0002715	Abnormality of the immune system	51256	TBC1D7	OMIM:248000
HP:0002715	Abnormality of the immune system	3117	HLA-DQA1	OMIM:212750
HP:0002715	Abnormality of the immune system	10847	SRCAP	OMIM:136140
HP:0002715	Abnormality of the immune system	10847	SRCAP	ORPHA:2044
HP:0002715	Abnormality of the immune system	29998	BICRA	OMIM:619325
HP:0002715	Abnormality of the immune system	2006	ELN	OMIM:194050
HP:0002715	Abnormality of the immune system	51085	MLXIPL	OMIM:194050
HP:0002715	Abnormality of the immune system	5295	PIK3R1	OMIM:269880
HP:0002715	Abnormality of the immune system	7097	TLR2	OMIM:246300
HP:0002715	Abnormality of the immune system	10743	RAI1	OMIM:182290
HP:0002715	Abnormality of the immune system	7355	SLC35A2	ORPHA:356961
HP:0002715	Abnormality of the immune system	686	BTD	ORPHA:79241
HP:0002715	Abnormality of the immune system	5590	PRKCZ	ORPHA:1606
HP:0002715	Abnormality of the immune system	2563	GABRD	ORPHA:1606
HP:0002715	Abnormality of the immune system	23013	SPEN	ORPHA:1606
HP:0002715	Abnormality of the immune system	8510	MMP23B	ORPHA:1606
HP:0002715	Abnormality of the immune system	7798	LUZP1	ORPHA:1606
HP:0002715	Abnormality of the immune system	6497	SKI	ORPHA:1606
HP:0002715	Abnormality of the immune system	10630	PDPN	ORPHA:1606
HP:0002715	Abnormality of the immune system	3339	HSPG2	ORPHA:1606
HP:0002715	Abnormality of the immune system	10277	UBE4B	ORPHA:1606
HP:0002715	Abnormality of the immune system	8514	KCNAB2	ORPHA:1606
HP:0002715	Abnormality of the immune system	473	RERE	ORPHA:1606
HP:0002715	Abnormality of the immune system	63976	PRDM16	ORPHA:1606
HP:0002715	Abnormality of the immune system	54897	CASZ1	ORPHA:1606
HP:0002715	Abnormality of the immune system	113235	SLC46A1	ORPHA:90045
HP:0002715	Abnormality of the immune system	11322	TMC6	ORPHA:302
HP:0002715	Abnormality of the immune system	3574	IL7	ORPHA:302
HP:0002715	Abnormality of the immune system	147138	TMC8	ORPHA:302
HP:0002715	Abnormality of the immune system	10519	CIB1	ORPHA:302
HP:0002715	Abnormality of the immune system	5184	PEPD	ORPHA:742
HP:0002715	Abnormality of the immune system	5376	PMP22	OMIM:180800
HP:0002715	Abnormality of the immune system	4359	MPZ	OMIM:180800
HP:0002715	Abnormality of the immune system	5903	RANBP2	OMIM:608033
HP:0002715	Abnormality of the immune system	472	ATM	ORPHA:100
HP:0002715	Abnormality of the immune system	641	BLM	ORPHA:125
HP:0002715	Abnormality of the immune system	10815	CPLX1	ORPHA:280
HP:0002715	Abnormality of the immune system	54872	PIGG	ORPHA:280
HP:0002715	Abnormality of the immune system	7469	NELFA	ORPHA:280
HP:0002715	Abnormality of the immune system	1487	CTBP1	ORPHA:280
HP:0002715	Abnormality of the immune system	3954	LETM1	ORPHA:280
HP:0002715	Abnormality of the immune system	7468	NSD2	ORPHA:280
HP:0002715	Abnormality of the immune system	65250	CPLANE1	ORPHA:65684
HP:0002715	Abnormality of the immune system	57562	CEP126	ORPHA:65684
HP:0002715	Abnormality of the immune system	84818	IL17RC	ORPHA:1334
HP:0002715	Abnormality of the immune system	64581	CLEC7A	ORPHA:1334
HP:0002715	Abnormality of the immune system	23765	IL17RA	ORPHA:1334
HP:0002715	Abnormality of the immune system	10758	TRAF3IP2	ORPHA:1334
HP:0002715	Abnormality of the immune system	112744	IL17F	ORPHA:1334
HP:0002715	Abnormality of the immune system	4914	NTRK1	OMIM:256800
HP:0002715	Abnormality of the immune system	4353	MPO	OMIM:254600
HP:0002715	Abnormality of the immune system	114548	NLRP3	OMIM:617772
HP:0002715	Abnormality of the immune system	114548	NLRP3	OMIM:607115
HP:0002715	Abnormality of the immune system	114548	NLRP3	ORPHA:1451
HP:0002715	Abnormality of the immune system	5604	MAP2K1	ORPHA:389
HP:0002715	Abnormality of the immune system	23149	FCHO1	OMIM:619164
HP:0002715	Abnormality of the immune system	2130	EWSR1	ORPHA:83469
HP:0002715	Abnormality of the immune system	1277	COL1A1	ORPHA:31112
HP:0002715	Abnormality of the immune system	5155	PDGFB	ORPHA:31112
HP:0002715	Abnormality of the immune system	595	CCND1	ORPHA:52416
HP:0002715	Abnormality of the immune system	595	CCND1	ORPHA:29073
HP:0002715	Abnormality of the immune system	3492	IGH	ORPHA:52416
HP:0002715	Abnormality of the immune system	3492	IGH	ORPHA:52417
HP:0002715	Abnormality of the immune system	3492	IGH	ORPHA:545
HP:0002715	Abnormality of the immune system	330	BIRC3	ORPHA:52417
HP:0002715	Abnormality of the immune system	6049	RNF6	ORPHA:99977
HP:0002715	Abnormality of the immune system	7048	TGFBR2	ORPHA:99977
HP:0002715	Abnormality of the immune system	51741	WWOX	ORPHA:99977
HP:0002715	Abnormality of the immune system	9940	DLEC1	ORPHA:99977
HP:0002715	Abnormality of the immune system	57169	ZNFX1	OMIM:619644
HP:0002715	Abnormality of the immune system	100151683	RNU4ATAC	ORPHA:353298
HP:0002715	Abnormality of the immune system	100151683	RNU4ATAC	OMIM:616651
HP:0002715	Abnormality of the immune system	596	BCL2	ORPHA:545
HP:0002715	Abnormality of the immune system	604	BCL6	ORPHA:545
HP:0002715	Abnormality of the immune system	4173	MCM4	OMIM:609981
HP:0002715	Abnormality of the immune system	29887	SNX10	ORPHA:667
HP:0002715	Abnormality of the immune system	8600	TNFSF11	ORPHA:667
HP:0002715	Abnormality of the immune system	55315	SLC29A3	OMIM:602782
HP:0002715	Abnormality of the immune system	55315	SLC29A3	ORPHA:168569
HP:0002715	Abnormality of the immune system	7132	TNFRSF1A	ORPHA:32960
HP:0002715	Abnormality of the immune system	5978	REST	ORPHA:654
HP:0002715	Abnormality of the immune system	129563	DIS3L2	ORPHA:654
HP:0002715	Abnormality of the immune system	10155	TRIM28	ORPHA:654
HP:0002715	Abnormality of the immune system	11281	POU6F2	ORPHA:654
HP:0002715	Abnormality of the immune system	2719	GPC3	ORPHA:654
HP:0002715	Abnormality of the immune system	283120	H19	ORPHA:654
HP:0002715	Abnormality of the immune system	3684	ITGAM	ORPHA:536
HP:0002715	Abnormality of the immune system	221895	JAZF1	ORPHA:536
HP:0002715	Abnormality of the immune system	7292	TNFSF4	ORPHA:536
HP:0002715	Abnormality of the immune system	55024	BANK1	ORPHA:536
HP:0002715	Abnormality of the immune system	3500	IGHG1	ORPHA:536
HP:0002715	Abnormality of the immune system	5133	PDCD1	ORPHA:536
HP:0002715	Abnormality of the immune system	2113	ETS1	ORPHA:536
HP:0002715	Abnormality of the immune system	10318	TNIP1	ORPHA:536
HP:0002715	Abnormality of the immune system	7332	UBE2L3	ORPHA:536
HP:0002715	Abnormality of the immune system	54899	PXK	ORPHA:536
HP:0002715	Abnormality of the immune system	7128	TNFAIP3	ORPHA:536
HP:0002715	Abnormality of the immune system	427	ASAH1	ORPHA:333
HP:0002715	Abnormality of the immune system	440275	EIF2AK4	ORPHA:199241
HP:0002715	Abnormality of the immune system	3931	LCAT	ORPHA:79292
HP:0002715	Abnormality of the immune system	91662	NLRP12	OMIM:611762
HP:0002715	Abnormality of the immune system	51371	POMP	OMIM:618048
HP:0002715	Abnormality of the immune system	8737	RIPK1	OMIM:618852
HP:0002715	Abnormality of the immune system	28985	MCTS1	OMIM:301115
HP:0002715	Abnormality of the immune system	5696	PSMB8	OMIM:256040
HP:0002715	Abnormality of the immune system	4613	MYCN	ORPHA:635
HP:0002715	Abnormality of the immune system	238	ALK	ORPHA:635
HP:0002715	Abnormality of the immune system	389421	LIN28B	ORPHA:635
HP:0002715	Abnormality of the immune system	4004	LMO1	ORPHA:635
HP:0002715	Abnormality of the immune system	57531	HACE1	ORPHA:635
HP:0002715	Abnormality of the immune system	8929	PHOX2B	ORPHA:635
HP:0002715	Abnormality of the immune system	22806	IKZF3	OMIM:619437
HP:0002715	Abnormality of the immune system	3075	CFH	OMIM:609814
HP:0002715	Abnormality of the immune system	9020	MAP3K14	OMIM:620449
HP:0002715	Abnormality of the immune system	1675	CFD	OMIM:613912
HP:0002715	Abnormality of the immune system	10456	HAX1	OMIM:610738
HP:0002715	Abnormality of the immune system	3689	ITGB2	OMIM:116920
HP:0002715	Abnormality of the immune system	27183	VPS4A	OMIM:619273
HP:0002715	Abnormality of the immune system	7528	YY1	ORPHA:506358
HP:0002715	Abnormality of the immune system	7528	YY1	OMIM:617557
HP:0002715	Abnormality of the immune system	26960	NBEA	OMIM:619157
HP:0002715	Abnormality of the immune system	3071	NCKAP1L	OMIM:618982
HP:0002715	Abnormality of the immune system	26235	FBXL4	OMIM:615471
HP:0002715	Abnormality of the immune system	8367	H4C5	OMIM:619950
HP:0002715	Abnormality of the immune system	4598	MVK	OMIM:260920
HP:0002715	Abnormality of the immune system	4598	MVK	OMIM:610377
HP:0002715	Abnormality of the immune system	6777	STAT5B	OMIM:618985
HP:0002715	Abnormality of the immune system	8854	ALDH1A2	OMIM:620025
HP:0002715	Abnormality of the immune system	2316	FLNA	ORPHA:99811
HP:0002715	Abnormality of the immune system	2316	FLNA	OMIM:300049
HP:0002715	Abnormality of the immune system	7018	TF	ORPHA:1195
HP:0002715	Abnormality of the immune system	80816	ASXL3	OMIM:615485
HP:0002715	Abnormality of the immune system	89910	UBE3B	OMIM:244450
HP:0002715	Abnormality of the immune system	55788	LMBRD1	OMIM:277380
HP:0002715	Abnormality of the immune system	55788	LMBRD1	ORPHA:79284
HP:0002715	Abnormality of the immune system	1717	DHCR7	ORPHA:818
HP:0002715	Abnormality of the immune system	9382	COG1	OMIM:611209
HP:0002715	Abnormality of the immune system	4868	NPHS1	OMIM:256300
HP:0002715	Abnormality of the immune system	9739	SETD1A	OMIM:619056
HP:0002715	Abnormality of the immune system	80204	FBXO11	OMIM:618089
HP:0002715	Abnormality of the immune system	340061	STING1	OMIM:615934
HP:0002715	Abnormality of the immune system	8289	ARID1A	OMIM:614607
HP:0002715	Abnormality of the immune system	8289	ARID1A	ORPHA:1465
HP:0002715	Abnormality of the immune system	5777	PTPN6	ORPHA:3243
HP:0002715	Abnormality of the immune system	6598	SMARCB1	OMIM:614608
HP:0002715	Abnormality of the immune system	6598	SMARCB1	ORPHA:1465
HP:0002715	Abnormality of the immune system	6597	SMARCA4	OMIM:614609
HP:0002715	Abnormality of the immune system	6597	SMARCA4	ORPHA:1465
HP:0002715	Abnormality of the immune system	171023	ASXL1	ORPHA:97297
HP:0002715	Abnormality of the immune system	171023	ASXL1	OMIM:605039
HP:0002715	Abnormality of the immune system	9839	ZEB2	ORPHA:261552
HP:0002715	Abnormality of the immune system	9839	ZEB2	ORPHA:261537
HP:0002715	Abnormality of the immune system	64919	BCL11B	OMIM:618092
HP:0002715	Abnormality of the immune system	1656	DDX6	OMIM:618653
HP:0002715	Abnormality of the immune system	7156	TOP3A	OMIM:618097
HP:0002715	Abnormality of the immune system	79813	EHMT1	OMIM:610253
HP:0002715	Abnormality of the immune system	79813	EHMT1	ORPHA:261652
HP:0002715	Abnormality of the immune system	26057	ANKRD17	OMIM:619504
HP:0002715	Abnormality of the immune system	55361	PI4K2A	OMIM:620732
HP:0002715	Abnormality of the immune system	84947	SERAC1	OMIM:614739
HP:0002715	Abnormality of the immune system	10522	DEAF1	OMIM:615828
HP:0002715	Abnormality of the immune system	10522	DEAF1	ORPHA:468620
HP:0002715	Abnormality of the immune system	729230	CCR2	OMIM:219600
HP:0002715	Abnormality of the immune system	54888	NSUN2	ORPHA:235
HP:0002715	Abnormality of the immune system	8493	PPM1D	OMIM:617450
HP:0002715	Abnormality of the immune system	6135	RPL11	OMIM:612562
HP:0002715	Abnormality of the immune system	51692	CPSF3	OMIM:619876
HP:0002715	Abnormality of the immune system	6134	RPL10	ORPHA:459070
HP:0002715	Abnormality of the immune system	6134	RPL10	OMIM:300998
HP:0002715	Abnormality of the immune system	6134	RPL10	ORPHA:435938
HP:0002715	Abnormality of the immune system	83475	DOHH	OMIM:620066
HP:0002715	Abnormality of the immune system	1859	DYRK1A	ORPHA:464311
HP:0002715	Abnormality of the immune system	1859	DYRK1A	OMIM:614104
HP:0002715	Abnormality of the immune system	55719	SLF2	OMIM:620184
HP:0002715	Abnormality of the immune system	92667	MGME1	ORPHA:352447
HP:0002715	Abnormality of the immune system	92667	MGME1	OMIM:615084
HP:0002715	Abnormality of the immune system	58508	KMT2C	ORPHA:261652
HP:0002715	Abnormality of the immune system	11311	VPS45	OMIM:615285
HP:0002715	Abnormality of the immune system	54487	DGCR8	OMIM:192430
HP:0002715	Abnormality of the immune system	8214	DGCR6	OMIM:192430
HP:0002715	Abnormality of the immune system	8220	ESS2	OMIM:192430
HP:0002715	Abnormality of the immune system	9993	DGCR2	OMIM:192430
HP:0002715	Abnormality of the immune system	6605	SMARCE1	OMIM:616938
HP:0002715	Abnormality of the immune system	6605	SMARCE1	ORPHA:1465
HP:0002715	Abnormality of the immune system	91949	COG7	ORPHA:79333
HP:0002715	Abnormality of the immune system	91949	COG7	OMIM:608779
HP:0002715	Abnormality of the immune system	55343	SLC35C1	ORPHA:99843
HP:0002715	Abnormality of the immune system	3978	LIG1	OMIM:619774
HP:0002715	Abnormality of the immune system	5692	PSMB4	OMIM:617591
HP:0002715	Abnormality of the immune system	64116	SLC39A8	ORPHA:468699
HP:0002715	Abnormality of the immune system	64116	SLC39A8	OMIM:616721
HP:0002715	Abnormality of the immune system	404672	GTF2H5	ORPHA:33364
HP:0002715	Abnormality of the immune system	404672	GTF2H5	OMIM:616395
HP:0002715	Abnormality of the immune system	833	CARS1	ORPHA:33364
HP:0002715	Abnormality of the immune system	7737	RNF113A	ORPHA:33364
HP:0002715	Abnormality of the immune system	7737	RNF113A	OMIM:300953
HP:0002715	Abnormality of the immune system	136647	MPLKIP	ORPHA:33364
HP:0002715	Abnormality of the immune system	6897	TARS1	ORPHA:33364
HP:0002715	Abnormality of the immune system	16	AARS1	ORPHA:33364
HP:0002715	Abnormality of the immune system	2071	ERCC3	ORPHA:33364
HP:0002715	Abnormality of the immune system	2961	GTF2E2	ORPHA:33364
HP:0002715	Abnormality of the immune system	10195	ALG3	ORPHA:79321
HP:0002715	Abnormality of the immune system	8295	TRRAP	OMIM:618454
HP:0002715	Abnormality of the immune system	81570	CLPB	OMIM:616271
HP:0002715	Abnormality of the immune system	3980	LIG3	OMIM:619780
HP:0002715	Abnormality of the immune system	5256	PHKA2	ORPHA:264580
HP:0002715	Abnormality of the immune system	5261	PHKG2	ORPHA:264580
HP:0002715	Abnormality of the immune system	284119	CAVIN1	OMIM:613327
HP:0002715	Abnormality of the immune system	78987	CRELD1	OMIM:620771
HP:0002715	Abnormality of the immune system	10159	ATP6AP2	OMIM:301045
HP:0002715	Abnormality of the immune system	1441	CSF3R	OMIM:617014
HP:0002715	Abnormality of the immune system	253738	EBF3	ORPHA:96148
HP:0002715	Abnormality of the immune system	85358	SHANK3	OMIM:606232
HP:0002715	Abnormality of the immune system	128869	PIGU	OMIM:618590
HP:0002715	Abnormality of the immune system	79868	ALG13	OMIM:300884
HP:0002715	Abnormality of the immune system	169792	GLIS3	OMIM:610199
HP:0002715	Abnormality of the immune system	8320	EOMES	ORPHA:171703
HP:0002715	Abnormality of the immune system	9837	GINS1	OMIM:617827
HP:0002715	Abnormality of the immune system	915	CD3D	ORPHA:169160
HP:0002715	Abnormality of the immune system	537	ATP6AP1	OMIM:300972
HP:0002715	Abnormality of the immune system	8260	NAA10	OMIM:300855
HP:0002715	Abnormality of the immune system	3643	INSR	OMIM:246200
HP:0002715	Abnormality of the immune system	3643	INSR	ORPHA:769
HP:0002715	Abnormality of the immune system	6659	SOX4	ORPHA:1465
HP:0002715	Abnormality of the immune system	5977	DPF2	ORPHA:1465
HP:0002715	Abnormality of the immune system	6601	SMARCC2	ORPHA:1465
HP:0002715	Abnormality of the immune system	6602	SMARCD1	ORPHA:1465
HP:0002715	Abnormality of the immune system	57492	ARID1B	ORPHA:1465
HP:0002715	Abnormality of the immune system	196528	ARID2	ORPHA:1465
HP:0002715	Abnormality of the immune system	6664	SOX11	ORPHA:1465
HP:0002715	Abnormality of the immune system	3376	IARS1	ORPHA:541423
HP:0002715	Abnormality of the immune system	2917	GRM7	OMIM:618922
HP:0002715	Abnormality of the immune system	5257	PHKB	ORPHA:79240
HP:0002715	Abnormality of the immune system	10095	ARPC1B	OMIM:617718
HP:0002715	Abnormality of the immune system	9361	LONP1	ORPHA:79243
HP:0002715	Abnormality of the immune system	5160	PDHA1	ORPHA:79243
HP:0002715	Abnormality of the immune system	5422	POLA1	OMIM:301030
HP:0002715	Abnormality of the immune system	25942	SIN3A	ORPHA:94065
HP:0002715	Abnormality of the immune system	3977	LIFR	OMIM:601559
HP:0002715	Abnormality of the immune system	4126	MANBA	OMIM:248510
HP:0002715	Abnormality of the immune system	55340	GIMAP5	OMIM:619463
HP:0002715	Abnormality of the immune system	57511	COG6	OMIM:614576
HP:0002715	Abnormality of the immune system	9419	CRIPT	OMIM:615789
HP:0002715	Abnormality of the immune system	970	CD70	OMIM:618261
HP:0002715	Abnormality of the immune system	2892	GRIA3	ORPHA:364028
HP:0002715	Abnormality of the immune system	6711	SPTBN1	OMIM:619475
HP:0002715	Abnormality of the immune system	23568	ARL2BP	OMIM:615434
HP:0002715	Abnormality of the immune system	6513	SLC2A1	ORPHA:168577
HP:0002715	Abnormality of the immune system	7204	TRIO	OMIM:617061
HP:0002715	Abnormality of the immune system	7204	TRIO	ORPHA:476126
HP:0002715	Abnormality of the immune system	374354	NHLRC2	OMIM:618278
HP:0002715	Abnormality of the immune system	283989	TSEN54	ORPHA:2524
HP:0002715	Abnormality of the immune system	116461	TSEN15	ORPHA:2524
HP:0002715	Abnormality of the immune system	79042	TSEN34	ORPHA:2524
HP:0002715	Abnormality of the immune system	80746	TSEN2	ORPHA:2524
HP:0002715	Abnormality of the immune system	51091	SEPSECS	ORPHA:2524
HP:0002715	Abnormality of the immune system	84905	ZNF341	OMIM:618282
HP:0002715	Abnormality of the immune system	6651	SON	ORPHA:500150
HP:0002715	Abnormality of the immune system	84231	TRAF7	OMIM:618164
HP:0002715	Abnormality of the immune system	5970	RELA	OMIM:618287
HP:0002715	Abnormality of the immune system	8481	OFD1	OMIM:300804
HP:0002715	Abnormality of the immune system	2806	GOT2	OMIM:618721
HP:0002715	Abnormality of the immune system	5557	PRIM1	OMIM:620005
HP:0002715	Abnormality of the immune system	23389	MED13L	OMIM:616789
HP:0002715	Abnormality of the immune system	9757	KMT2B	OMIM:619934
HP:0002715	Abnormality of the immune system	5660	PSAP	ORPHA:206436
HP:0002715	Abnormality of the immune system	9451	EIF2AK3	ORPHA:1667
HP:0002715	Abnormality of the immune system	5965	RECQL	OMIM:620370
HP:0002715	Abnormality of the immune system	6850	SYK	OMIM:619381
HP:0002715	Abnormality of the immune system	4204	MECP2	OMIM:300260
HP:0002715	Abnormality of the immune system	1604	CD55	OMIM:226300
HP:0002715	Abnormality of the immune system	131669	UROC1	ORPHA:210128
HP:0002715	Abnormality of the immune system	5424	POLD1	OMIM:620836
HP:0002715	Abnormality of the immune system	51604	PIGT	ORPHA:369837
HP:0002715	Abnormality of the immune system	64170	CARD9	OMIM:212050
HP:0002715	Abnormality of the immune system	51750	RTEL1	OMIM:615190
HP:0002715	Abnormality of the immune system	51750	RTEL1	ORPHA:3322
HP:0002715	Abnormality of the immune system	3551	IKBKB	OMIM:615592
HP:0002715	Abnormality of the immune system	55388	MCM10	OMIM:619313
HP:0002715	Abnormality of the immune system	7293	TNFRSF4	OMIM:615593
HP:0002715	Abnormality of the immune system	331	XIAP	OMIM:300635
HP:0002715	Abnormality of the immune system	331	XIAP	OMIM:308240
HP:0002715	Abnormality of the immune system	331	XIAP	ORPHA:538934
HP:0002715	Abnormality of the immune system	4688	NCF2	OMIM:233710
HP:0002715	Abnormality of the immune system	3932	LCK	OMIM:615758
HP:0002715	Abnormality of the immune system	5293	PIK3CD	OMIM:615513
HP:0002715	Abnormality of the immune system	118429	ANTXR2	ORPHA:2176
HP:0002715	Abnormality of the immune system	987	LRBA	OMIM:614700
HP:0002715	Abnormality of the immune system	7518	XRCC4	ORPHA:99812
HP:0002715	Abnormality of the immune system	7518	XRCC4	OMIM:616541
HP:0002715	Abnormality of the immune system	3981	LIG4	ORPHA:99812
HP:0002715	Abnormality of the immune system	79083	MLPH	OMIM:609227
HP:0002715	Abnormality of the immune system	1736	DKC1	OMIM:305000
HP:0002715	Abnormality of the immune system	1736	DKC1	ORPHA:3322
HP:0002715	Abnormality of the immune system	9094	UNC119	OMIM:615518
HP:0002715	Abnormality of the immune system	959	CD40LG	OMIM:308230
HP:0002715	Abnormality of the immune system	4125	MAN2B1	ORPHA:309282
HP:0002715	Abnormality of the immune system	4125	MAN2B1	ORPHA:309288
HP:0002715	Abnormality of the immune system	57379	AICDA	OMIM:605258
HP:0002715	Abnormality of the immune system	9051	PSTPIP1	OMIM:601979
HP:0002715	Abnormality of the immune system	613	BCR	ORPHA:261330
HP:0002715	Abnormality of the immune system	1399	CRKL	ORPHA:261330
HP:0002715	Abnormality of the immune system	5594	MAPK1	ORPHA:261330
HP:0002715	Abnormality of the immune system	11151	CORO1A	OMIM:615401
HP:0002715	Abnormality of the immune system	10525	HYOU1	OMIM:233600
HP:0002715	Abnormality of the immune system	166378	AFG2A	OMIM:616577
HP:0002715	Abnormality of the immune system	166378	AFG2A	ORPHA:457351
HP:0002715	Abnormality of the immune system	51135	IRAK4	OMIM:607676
HP:0002715	Abnormality of the immune system	51135	IRAK4	ORPHA:70592
HP:0002715	Abnormality of the immune system	4068	SH2D1A	OMIM:308240
HP:0002715	Abnormality of the immune system	79840	NHEJ1	ORPHA:169079
HP:0002715	Abnormality of the immune system	134218	DNAJC21	ORPHA:811
HP:0002715	Abnormality of the immune system	79631	EFL1	ORPHA:811
HP:0002715	Abnormality of the immune system	51119	SBDS	ORPHA:811
HP:0002715	Abnormality of the immune system	8029	CUBN	ORPHA:35858
HP:0002715	Abnormality of the immune system	81693	AMN	ORPHA:35858
HP:0002715	Abnormality of the immune system	84196	USP48	ORPHA:96253
HP:0002715	Abnormality of the immune system	7157	TP53	ORPHA:96253
HP:0002715	Abnormality of the immune system	9101	USP8	ORPHA:96253
HP:0002715	Abnormality of the immune system	64072	CDH23	ORPHA:96253
HP:0002715	Abnormality of the immune system	2908	NR3C1	ORPHA:96253
HP:0002715	Abnormality of the immune system	673	BRAF	ORPHA:96253
HP:0002715	Abnormality of the immune system	546	ATRX	ORPHA:96253
HP:0002715	Abnormality of the immune system	546	ATRX	ORPHA:231401
HP:0002715	Abnormality of the immune system	51360	MBTPS2	ORPHA:2273
HP:0002715	Abnormality of the immune system	6772	STAT1	OMIM:614162
HP:0002715	Abnormality of the immune system	6772	STAT1	ORPHA:391487
HP:0002715	Abnormality of the immune system	6772	STAT1	OMIM:614892
HP:0002715	Abnormality of the immune system	84061	MAGT1	OMIM:300853
HP:0002715	Abnormality of the immune system	7037	TFRC	OMIM:616740
HP:0002715	Abnormality of the immune system	1493	CTLA4	OMIM:616100
HP:0002715	Abnormality of the immune system	1493	CTLA4	ORPHA:3162
HP:0002715	Abnormality of the immune system	84876	ORAI1	OMIM:612782
HP:0002715	Abnormality of the immune system	1503	CTPS1	OMIM:615897
HP:0002715	Abnormality of the immune system	6573	SLC19A1	OMIM:620603
HP:0002715	Abnormality of the immune system	3665	IRF7	OMIM:616345
HP:0002715	Abnormality of the immune system	10616	RBCK1	OMIM:615895
HP:0002715	Abnormality of the immune system	6786	STIM1	OMIM:612783
HP:0002715	Abnormality of the immune system	6499	SKIC2	OMIM:614602
HP:0002715	Abnormality of the immune system	6499	SKIC2	ORPHA:84064
HP:0002715	Abnormality of the immune system	5426	POLE	OMIM:615139
HP:0002715	Abnormality of the immune system	5426	POLE	OMIM:618336
HP:0002715	Abnormality of the immune system	84823	LMNB2	ORPHA:79087
HP:0002715	Abnormality of the immune system	5238	PGM3	OMIM:615816
HP:0002715	Abnormality of the immune system	3431	SP110	OMIM:235550
HP:0002715	Abnormality of the immune system	10092	ARPC5	OMIM:620565
HP:0002715	Abnormality of the immune system	1312	COMT	ORPHA:567
HP:0002715	Abnormality of the immune system	221037	JMJD1C	ORPHA:567
HP:0002715	Abnormality of the immune system	2812	GP1BB	ORPHA:567
HP:0002715	Abnormality of the immune system	6239	RREB1	ORPHA:567
HP:0002715	Abnormality of the immune system	7290	HIRA	ORPHA:567
HP:0002715	Abnormality of the immune system	9632	SEC24C	ORPHA:567
HP:0002715	Abnormality of the immune system	7353	UFD1	ORPHA:567
HP:0002715	Abnormality of the immune system	421	ARVCF	ORPHA:567
HP:0002715	Abnormality of the immune system	28956	LAMTOR2	ORPHA:90023
HP:0002715	Abnormality of the immune system	28956	LAMTOR2	OMIM:610798
HP:0002715	Abnormality of the immune system	1130	LYST	ORPHA:167
HP:0002715	Abnormality of the immune system	1130	LYST	ORPHA:352723
HP:0002715	Abnormality of the immune system	60	ACTB	ORPHA:79107
HP:0002715	Abnormality of the immune system	7374	UNG	OMIM:608106
HP:0002715	Abnormality of the immune system	958	CD40	OMIM:606843
HP:0002715	Abnormality of the immune system	1105	CHD1	OMIM:617682
HP:0002715	Abnormality of the immune system	1105	CHD1	ORPHA:529965
HP:0002715	Abnormality of the immune system	2624	GATA2	OMIM:614172
HP:0002715	Abnormality of the immune system	5631	PRPS1	OMIM:301835
HP:0002715	Abnormality of the immune system	3043	HBB	ORPHA:231249
HP:0002715	Abnormality of the immune system	3560	IL2RB	OMIM:618495
HP:0002715	Abnormality of the immune system	29128	UHRF1	ORPHA:2268
HP:0002715	Abnormality of the immune system	3070	HELLS	ORPHA:2268
HP:0002715	Abnormality of the immune system	1789	DNMT3B	ORPHA:2268
HP:0002715	Abnormality of the immune system	1789	DNMT3B	OMIM:242860
HP:0002715	Abnormality of the immune system	83879	CDCA7	ORPHA:2268
HP:0002715	Abnormality of the immune system	9841	ZBTB24	ORPHA:2268
HP:0002715	Abnormality of the immune system	9841	ZBTB24	OMIM:614069
HP:0002715	Abnormality of the immune system	90268	OTULIN	OMIM:619986
HP:0002715	Abnormality of the immune system	23495	TNFRSF13B	ORPHA:1572
HP:0002715	Abnormality of the immune system	4790	NFKB1	ORPHA:1572
HP:0002715	Abnormality of the immune system	4791	NFKB2	ORPHA:1572
HP:0002715	Abnormality of the immune system	115650	TNFRSF13C	ORPHA:1572
HP:0002715	Abnormality of the immune system	1380	CR2	ORPHA:1572
HP:0002715	Abnormality of the immune system	8742	TNFSF12	ORPHA:1572
HP:0002715	Abnormality of the immune system	930	CD19	ORPHA:1572
HP:0002715	Abnormality of the immune system	29851	ICOS	ORPHA:1572
HP:0002715	Abnormality of the immune system	29851	ICOS	OMIM:607594
HP:0002715	Abnormality of the immune system	931	MS4A1	ORPHA:1572
HP:0002715	Abnormality of the immune system	975	CD81	ORPHA:1572
HP:0002715	Abnormality of the immune system	359948	IRF2BP2	ORPHA:1572
HP:0002715	Abnormality of the immune system	653361	NCF1	OMIM:233700
HP:0002715	Abnormality of the immune system	53834	FGFRL1	OMIM:194190
HP:0002715	Abnormality of the immune system	2214	FCGR3A	OMIM:615707
HP:0002715	Abnormality of the immune system	91039	DPP9	OMIM:620331
HP:0002715	Abnormality of the immune system	5873	RAB27A	ORPHA:79477
HP:0002715	Abnormality of the immune system	8943	AP3D1	OMIM:617050
HP:0002715	Abnormality of the immune system	57003	CCDC47	OMIM:618268
HP:0002715	Abnormality of the immune system	23126	POGZ	OMIM:616364
HP:0002715	Abnormality of the immune system	4609	MYC	OMIM:113970
HP:0002715	Abnormality of the immune system	9636	ISG15	OMIM:616126
HP:0002715	Abnormality of the immune system	7454	WAS	ORPHA:906
HP:0002715	Abnormality of the immune system	7456	WIPF1	ORPHA:906
HP:0002715	Abnormality of the immune system	6789	STK4	OMIM:614868
HP:0002715	Abnormality of the immune system	56052	ALG1	ORPHA:79327
HP:0002715	Abnormality of the immune system	8915	BCL10	OMIM:616098
HP:0002715	Abnormality of the immune system	374879	ZNF699	OMIM:619488
HP:0002715	Abnormality of the immune system	4780	NFE2L2	OMIM:617744
HP:0002715	Abnormality of the immune system	51816	ADA2	OMIM:615688
HP:0002715	Abnormality of the immune system	50615	IL21R	OMIM:615207
HP:0002715	Abnormality of the immune system	7297	TYK2	OMIM:611521
HP:0002715	Abnormality of the immune system	8450	CUL4B	ORPHA:85293
HP:0002715	Abnormality of the immune system	55072	RNF31	OMIM:620632
HP:0002715	Abnormality of the immune system	84433	CARD11	OMIM:615206
HP:0002715	Abnormality of the immune system	917	CD3G	OMIM:615607
HP:0002715	Abnormality of the immune system	5896	RAG1	ORPHA:231154
HP:0002715	Abnormality of the immune system	5880	RAC2	ORPHA:183707
HP:0002715	Abnormality of the immune system	57724	EPG5	OMIM:242840
HP:0002715	Abnormality of the immune system	23387	SIK3	OMIM:618162
HP:0002715	Abnormality of the immune system	940	CD28	ORPHA:3162
HP:0002715	Abnormality of the immune system	7133	TNFRSF1B	ORPHA:3162
HP:0002715	Abnormality of the immune system	3937	LCP2	OMIM:619374
HP:0002715	Abnormality of the immune system	27040	LAT	OMIM:617514
HP:0002715	Abnormality of the immune system	919	CD247	OMIM:610163
HP:0002715	Abnormality of the immune system	10625	IVNS1ABP	OMIM:618969
HP:0002715	Abnormality of the immune system	5297	PI4KA	ORPHA:436252
HP:0002715	Abnormality of the immune system	5297	PI4KA	OMIM:619708
HP:0002715	Abnormality of the immune system	57217	TTC7A	ORPHA:436252
HP:0002715	Abnormality of the immune system	916	CD3E	OMIM:615615
HP:0002715	Abnormality of the immune system	3459	IFNGR1	OMIM:615978
HP:0002715	Abnormality of the immune system	3460	IFNGR2	OMIM:614889
HP:0002715	Abnormality of the immune system	775	CACNA1C	OMIM:618447
HP:0002715	Abnormality of the immune system	1535	CYBA	OMIM:233690
HP:0002715	Abnormality of the immune system	3594	IL12RB1	ORPHA:319552
HP:0002715	Abnormality of the immune system	3594	IL12RB1	OMIM:614891
HP:0002715	Abnormality of the immune system	5073	PARN	ORPHA:3322
HP:0002715	Abnormality of the immune system	26277	TINF2	ORPHA:3322
HP:0002715	Abnormality of the immune system	29110	TBK1	OMIM:620880
HP:0002715	Abnormality of the immune system	29110	TBK1	ORPHA:1930
HP:0002715	Abnormality of the immune system	178	AGL	ORPHA:366
HP:0002715	Abnormality of the immune system	1536	CYBB	OMIM:306400
HP:0002715	Abnormality of the immune system	8456	FOXN1	ORPHA:169095
HP:0002715	Abnormality of the immune system	5699	PSMB10	OMIM:620807
HP:0002715	Abnormality of the immune system	3593	IL12B	OMIM:614890
HP:0002715	Abnormality of the immune system	10892	MALT1	OMIM:615468
HP:0002715	Abnormality of the immune system	9652	SKIC3	ORPHA:84064
HP:0002715	Abnormality of the immune system	4212	MEIS2	ORPHA:261190
HP:0002715	Abnormality of the immune system	165918	RNF168	OMIM:611943
HP:0002715	Abnormality of the immune system	165918	RNF168	ORPHA:420741
HP:0002715	Abnormality of the immune system	64858	DCLRE1B	OMIM:620133
HP:0002715	Abnormality of the immune system	3559	IL2RA	OMIM:606367
HP:0002715	Abnormality of the immune system	4594	MMUT	ORPHA:79312
HP:0002715	Abnormality of the immune system	6023	RMRP	OMIM:250460
HP:0002715	Abnormality of the immune system	6929	TCF3	ORPHA:33110
HP:0002715	Abnormality of the immune system	7922	SLC39A7	ORPHA:33110
HP:0002715	Abnormality of the immune system	973	CD79A	ORPHA:33110
HP:0002715	Abnormality of the immune system	974	CD79B	ORPHA:33110
HP:0002715	Abnormality of the immune system	6688	SPI1	ORPHA:33110
HP:0002715	Abnormality of the immune system	3543	IGLL1	ORPHA:33110
HP:0002715	Abnormality of the immune system	3507	IGHM	ORPHA:33110
HP:0002715	Abnormality of the immune system	29760	BLNK	ORPHA:33110
HP:0002715	Abnormality of the immune system	56262	LRRC8A	ORPHA:33110
HP:0002715	Abnormality of the immune system	7187	TRAF3	ORPHA:1930
HP:0002715	Abnormality of the immune system	81622	UNC93B1	ORPHA:1930
HP:0002715	Abnormality of the immune system	148022	TICAM1	ORPHA:1930
HP:0002715	Abnormality of the immune system	7098	TLR3	ORPHA:1930
HP:0002715	Abnormality of the immune system	8547	FCN3	OMIM:613860
HP:0002715	Abnormality of the immune system	2542	SLC37A4	OMIM:232240
HP:0002715	Abnormality of the immune system	731	C8A	OMIM:613790
HP:0002715	Abnormality of the immune system	10747	MASP2	OMIM:613791
HP:0002715	Abnormality of the immune system	6696	SPP1	ORPHA:93552
HP:0002715	Abnormality of the immune system	6303	SAT1	ORPHA:93552
HP:0002715	Abnormality of the immune system	3654	IRAK1	ORPHA:93552
HP:0002715	Abnormality of the immune system	718	C3	OMIM:613779
HP:0002715	Abnormality of the immune system	717	C2	OMIM:217000
HP:0002715	Abnormality of the immune system	1080	CFTR	ORPHA:498359
HP:0002715	Abnormality of the immune system	51428	DDX41	OMIM:616871
HP:0002715	Abnormality of the immune system	2212	FCGR2A	OMIM:152700
HP:0002715	Abnormality of the immune system	2213	FCGR2B	OMIM:152700
HP:0002715	Abnormality of the immune system	1773	DNASE1	OMIM:152700
HP:0002715	Abnormality of the immune system	10501	SEMA6B	OMIM:618876
HP:0002715	Abnormality of the immune system	2304	FOXE1	ORPHA:319487
HP:0002715	Abnormality of the immune system	3026	HABP2	ORPHA:319487
HP:0002715	Abnormality of the immune system	9562	MINPP1	ORPHA:319487
HP:0002715	Abnormality of the immune system	56244	BTNL2	ORPHA:797
HP:0002715	Abnormality of the immune system	25923	ATL3	OMIM:615632
HP:0002715	Abnormality of the immune system	25923	ATL3	ORPHA:36386
HP:0002715	Abnormality of the immune system	4803	NGF	OMIM:608654
HP:0002715	Abnormality of the immune system	1786	DNMT1	OMIM:614116
HP:0002715	Abnormality of the immune system	51062	ATL1	OMIM:613708
HP:0002715	Abnormality of the immune system	51062	ATL1	ORPHA:36386
HP:0002715	Abnormality of the immune system	10558	SPTLC1	OMIM:162400
HP:0002715	Abnormality of the immune system	10558	SPTLC1	ORPHA:36386
HP:0002715	Abnormality of the immune system	3554	IL1R1	OMIM:259680
HP:0002715	Abnormality of the immune system	28982	FLVCR1	ORPHA:88628
HP:0002715	Abnormality of the immune system	8218	CLTCL1	ORPHA:453510
HP:0002715	Abnormality of the immune system	54463	RETREG1	OMIM:613115
HP:0002715	Abnormality of the immune system	2019	EN1	OMIM:619218
HP:0002715	Abnormality of the immune system	3248	HPGD	ORPHA:2796
HP:0002715	Abnormality of the immune system	6578	SLCO2A1	ORPHA:2796
HP:0002715	Abnormality of the immune system	205327	C2orf69	OMIM:619423
HP:0002715	Abnormality of the immune system	5283	PIGH	OMIM:618010
HP:0002715	Abnormality of the immune system	9517	SPTLC2	OMIM:613640
HP:0002715	Abnormality of the immune system	9517	SPTLC2	ORPHA:36386
HP:0002715	Abnormality of the immune system	203859	ANO5	OMIM:166260
HP:0002715	Abnormality of the immune system	57282	SLC4A10	OMIM:620746
HP:0002715	Abnormality of the immune system	79912	PYROXD1	OMIM:617258
HP:0002715	Abnormality of the immune system	8021	NUP214	OMIM:618426
HP:0002715	Abnormality of the immune system	79759	ZNF668	OMIM:620194
HP:0002715	Abnormality of the immune system	6809	STX3	OMIM:619446
HP:0002715	Abnormality of the immune system	91869	RFT1	OMIM:612015
HP:0002715	Abnormality of the immune system	6662	SOX9	OMIM:114290
HP:0002715	Abnormality of the immune system	4718	NDUFC2	OMIM:619170
HP:0002715	Abnormality of the immune system	2530	FUT8	OMIM:618005
HP:0002715	Abnormality of the immune system	1292	COL6A2	OMIM:620727
HP:0002715	Abnormality of the immune system	4591	TRIM37	OMIM:253250
HP:0002715	Abnormality of the immune system	7407	VARS1	OMIM:617802
HP:0002715	Abnormality of the immune system	84320	ACBD6	OMIM:620785
HP:0002715	Abnormality of the immune system	6050	RNH1	OMIM:620461
HP:0002715	Abnormality of the immune system	23247	KATNIP	OMIM:616784
HP:0002715	Abnormality of the immune system	54808	DYM	ORPHA:239
HP:0002715	Abnormality of the immune system	6773	STAT2	OMIM:618886
HP:0002715	Abnormality of the immune system	3659	IRF1	OMIM:620668
HP:0002715	Abnormality of the immune system	5788	PTPRC	OMIM:619924
HP:0002715	Abnormality of the immune system	96459	FNIP1	OMIM:619705
HP:0002715	Abnormality of the immune system	6583	SLC22A4	OMIM:180300
HP:0002715	Abnormality of the immune system	51744	CD244	OMIM:180300
HP:0002715	Abnormality of the immune system	4795	NFKBIL1	OMIM:180300
HP:0002715	Abnormality of the immune system	8838	CCN6	ORPHA:1159
HP:0002715	Abnormality of the immune system	5551	PRF1	ORPHA:540
HP:0002715	Abnormality of the immune system	8676	STX11	ORPHA:540
HP:0002715	Abnormality of the immune system	201294	UNC13D	ORPHA:540
HP:0002715	Abnormality of the immune system	6813	STXBP2	ORPHA:540
HP:0002715	Abnormality of the immune system	5336	PLCG2	OMIM:614878
HP:0002715	Abnormality of the immune system	3953	LEPR	OMIM:614963
HP:0002715	Abnormality of the immune system	54	ACP5	OMIM:607944
HP:0002715	Abnormality of the immune system	50943	FOXP3	OMIM:304790
HP:0002715	Abnormality of the immune system	100	ADA	ORPHA:277
HP:0002715	Abnormality of the immune system	100	ADA	ORPHA:39041
HP:0002715	Abnormality of the immune system	6399	TRAPPC2	ORPHA:93284
HP:0002715	Abnormality of the immune system	355	FAS	ORPHA:3261
HP:0002715	Abnormality of the immune system	356	FASLG	ORPHA:3261
HP:0002715	Abnormality of the immune system	843	CASP10	ORPHA:3261
HP:0002715	Abnormality of the immune system	64421	DCLRE1C	ORPHA:275
HP:0002715	Abnormality of the immune system	64421	DCLRE1C	ORPHA:39041
HP:0002715	Abnormality of the immune system	144811	LACC1	ORPHA:85414
HP:0002715	Abnormality of the immune system	4282	MIF	ORPHA:85414
HP:0002715	Abnormality of the immune system	3123	HLA-DRB1	ORPHA:85414
HP:0002715	Abnormality of the immune system	3123	HLA-DRB1	ORPHA:703
HP:0002715	Abnormality of the immune system	3123	HLA-DRB1	ORPHA:220402
HP:0002715	Abnormality of the immune system	3123	HLA-DRB1	ORPHA:220393
HP:0002715	Abnormality of the immune system	3569	IL6	ORPHA:85414
HP:0002715	Abnormality of the immune system	3569	IL6	OMIM:222100
HP:0002715	Abnormality of the immune system	6775	STAT4	ORPHA:85410
HP:0002715	Abnormality of the immune system	79722	ANKRD55	ORPHA:85410
HP:0002715	Abnormality of the immune system	26191	PTPN22	ORPHA:85410
HP:0002715	Abnormality of the immune system	26191	PTPN22	ORPHA:900
HP:0002715	Abnormality of the immune system	26191	PTPN22	OMIM:222100
HP:0002715	Abnormality of the immune system	5771	PTPN2	ORPHA:85410
HP:0002715	Abnormality of the immune system	23592	LEMD3	ORPHA:166119
HP:0002715	Abnormality of the immune system	3119	HLA-DQB1	ORPHA:703
HP:0002715	Abnormality of the immune system	1776	DNASE1L3	ORPHA:36412
HP:0002715	Abnormality of the immune system	7174	TPP2	ORPHA:444463
HP:0002715	Abnormality of the immune system	1235	CCR6	ORPHA:220402
HP:0002715	Abnormality of the immune system	1235	CCR6	ORPHA:220393
HP:0002715	Abnormality of the immune system	79932	KIAA0319L	ORPHA:220402
HP:0002715	Abnormality of the immune system	1490	CCN2	ORPHA:220402
HP:0002715	Abnormality of the immune system	1490	CCN2	ORPHA:220393
HP:0002715	Abnormality of the immune system	3663	IRF5	ORPHA:220402
HP:0002715	Abnormality of the immune system	3663	IRF5	ORPHA:186
HP:0002715	Abnormality of the immune system	3663	IRF5	ORPHA:220393
HP:0002715	Abnormality of the immune system	857	CAV1	ORPHA:220402
HP:0002715	Abnormality of the immune system	857	CAV1	ORPHA:220393
HP:0002715	Abnormality of the immune system	55806	HR	ORPHA:701
HP:0002715	Abnormality of the immune system	4522	MTHFD1	OMIM:617780
HP:0002715	Abnormality of the immune system	10216	PRG4	ORPHA:2848
HP:0002715	Abnormality of the immune system	84690	SPATA22	OMIM:621002
HP:0002715	Abnormality of the immune system	5994	RFXAP	ORPHA:572
HP:0002715	Abnormality of the immune system	4261	CIITA	ORPHA:572
HP:0002715	Abnormality of the immune system	5993	RFX5	ORPHA:572
HP:0002715	Abnormality of the immune system	8625	RFXANK	ORPHA:572
HP:0002715	Abnormality of the immune system	2859	GPR35	ORPHA:171
HP:0002715	Abnormality of the immune system	10507	SEMA4D	ORPHA:171
HP:0002715	Abnormality of the immune system	4485	MST1	ORPHA:171
HP:0002715	Abnormality of the immune system	6925	TCF4	ORPHA:171
HP:0002715	Abnormality of the immune system	2332	FMR1	ORPHA:449291
HP:0002715	Abnormality of the immune system	5897	RAG2	ORPHA:331206
HP:0002715	Abnormality of the immune system	5897	RAG2	ORPHA:39041
HP:0002715	Abnormality of the immune system	29071	C1GALT1C1	OMIM:300622
HP:0002715	Abnormality of the immune system	28755	TRAC	OMIM:615387
HP:0002715	Abnormality of the immune system	4792	NFKBIA	ORPHA:98813
HP:0002715	Abnormality of the immune system	3702	ITK	OMIM:613011
HP:0002715	Abnormality of the immune system	6774	STAT3	OMIM:615952
HP:0002715	Abnormality of the immune system	712	C1QA	OMIM:613652
HP:0002715	Abnormality of the immune system	5580	PRKCD	OMIM:615559
HP:0002715	Abnormality of the immune system	2321	FLT1	ORPHA:275555
HP:0002715	Abnormality of the immune system	219736	STOX1	ORPHA:275555
HP:0002715	Abnormality of the immune system	10699	CORIN	ORPHA:275555
HP:0002715	Abnormality of the immune system	3115	HLA-DPB1	ORPHA:900
HP:0002715	Abnormality of the immune system	5657	PRTN3	ORPHA:900
HP:0002715	Abnormality of the immune system	3113	HLA-DPA1	ORPHA:900
HP:0002715	Abnormality of the immune system	3575	IL7R	ORPHA:39041
HP:0002715	Abnormality of the immune system	3561	IL2RG	ORPHA:39041
HP:0002715	Abnormality of the immune system	715	C1R	OMIM:130080
HP:0002715	Abnormality of the immune system	23534	TNPO3	ORPHA:186
HP:0002715	Abnormality of the immune system	3592	IL12A	ORPHA:186
HP:0002715	Abnormality of the immune system	6689	SPIB	ORPHA:186
HP:0002715	Abnormality of the immune system	5450	POU2AF1	ORPHA:186
HP:0002715	Abnormality of the immune system	9966	TNFSF15	ORPHA:186
HP:0002715	Abnormality of the immune system	79258	MMEL1	ORPHA:186
HP:0002715	Abnormality of the immune system	84868	HAVCR2	OMIM:618398
HP:0002715	Abnormality of the immune system	5728	PTEN	ORPHA:397596
HP:0002715	Abnormality of the immune system	83737	ITCH	OMIM:613385
HP:0002715	Abnormality of the immune system	83737	ITCH	ORPHA:228426
HP:0002715	Abnormality of the immune system	5205	ATP8B1	ORPHA:69665
HP:0002715	Abnormality of the immune system	8647	ABCB11	ORPHA:69665
HP:0002715	Abnormality of the immune system	5244	ABCB4	ORPHA:69665
HP:0002715	Abnormality of the immune system	9971	NR1H4	ORPHA:69665
HP:0002715	Abnormality of the immune system	50485	SMARCAL1	ORPHA:1830
HP:0002715	Abnormality of the immune system	326	AIRE	ORPHA:3453
HP:0002715	Abnormality of the immune system	4087	SMAD2	OMIM:619656
HP:0002715	Abnormality of the immune system	5078	PAX4	OMIM:612227
HP:0002715	Abnormality of the immune system	208	AKT2	ORPHA:293964
HP:0002715	Abnormality of the immune system	3514	IGKC	ORPHA:183675
HP:0002715	Abnormality of the immune system	3501	IGHG2	ORPHA:183675
HP:0002715	Abnormality of the immune system	710	SERPING1	OMIM:106100
HP:0002715	Abnormality of the immune system	4860	PNP	ORPHA:760
HP:0002715	Abnormality of the immune system	56246	MRAP	ORPHA:361
HP:0002715	Abnormality of the immune system	6770	STAR	ORPHA:361
HP:0002715	Abnormality of the immune system	4158	MC2R	ORPHA:361
HP:0002715	Abnormality of the immune system	23530	NNT	ORPHA:361
HP:0002715	Abnormality of the immune system	10587	TXNRD2	ORPHA:361
HP:0002715	Abnormality of the immune system	81704	DOCK8	OMIM:243700
HP:0002715	Abnormality of the immune system	3710	ITPR3	OMIM:222100
HP:0002715	Abnormality of the immune system	6927	HNF1A	OMIM:222100
HP:0002715	Abnormality of the immune system	7535	ZAP70	OMIM:617006
HP:0002715	Abnormality of the immune system	10535	RNASEH2A	ORPHA:51
HP:0002715	Abnormality of the immune system	84153	RNASEH2C	ORPHA:51
HP:0002715	Abnormality of the immune system	25939	SAMHD1	ORPHA:51
HP:0002715	Abnormality of the immune system	79621	RNASEH2B	ORPHA:51
HP:0002715	Abnormality of the immune system	103	ADAR	ORPHA:51
HP:0002715	Abnormality of the immune system	11277	TREX1	ORPHA:51
HP:0002715	Abnormality of the immune system	100147744	RNU7-1	ORPHA:51
HP:0002715	Abnormality of the immune system	134353	LSM11	ORPHA:51
HP:0002715	Abnormality of the immune system	64135	IFIH1	ORPHA:51
HP:0002715	Abnormality of the immune system	1369	CPN1	OMIM:212070
HP:0002715	Abnormality of the immune system	121391	KRT74	ORPHA:90368
HP:0002715	Abnormality of the immune system	3857	KRT9	OMIM:144200
HP:0002715	Abnormality of the immune system	1956	EGFR	OMIM:616069
HP:0002715	Abnormality of the immune system	6868	ADAM17	OMIM:614328
HP:0002715	Abnormality of the immune system	1288	COL4A6	ORPHA:1018
HP:0002715	Abnormality of the immune system	1287	COL4A5	ORPHA:1018
HP:0002715	Abnormality of the immune system	200942	KLHDC8B	OMIM:236000
HP:0002715	Abnormality of the immune system	1161	ERCC8	OMIM:216400
HP:0002715	Abnormality of the immune system	6728	SRP19	ORPHA:486
HP:0002715	Abnormality of the immune system	2672	GFI1	ORPHA:486
HP:0002715	Abnormality of the immune system	1410	CRYAB	OMIM:608810
HP:0002715	Abnormality of the immune system	1314	COPA	OMIM:616414
HP:0002715	Abnormality of the immune system	5335	PLCG1	OMIM:620514
HP:0002715	Abnormality of the immune system	4358	MPV17	OMIM:256810
HP:0002715	Abnormality of the immune system	129607	CMPK2	OMIM:621018
HP:0002715	Abnormality of the immune system	714	C1QC	OMIM:620322
HP:0002715	Abnormality of the immune system	4313	MMP2	OMIM:259600
HP:0002715	Abnormality of the immune system	2582	GALE	OMIM:620776
HP:0002715	Abnormality of the immune system	2324	FLT4	OMIM:153100
HP:0002715	Abnormality of the immune system	8913	CACNA1G	ORPHA:458803
HP:0002715	Abnormality of the immune system	3107	HLA-C	OMIM:177900
HP:0002715	Abnormality of the immune system	6307	MSMO1	OMIM:616834
HP:0002715	Abnormality of the immune system	83483	PLVAP	OMIM:618183
HP:0002715	Abnormality of the immune system	10309	CCNO	OMIM:615872
HP:0002715	Abnormality of the immune system	114803	MYSM1	OMIM:618116
HP:0002715	Abnormality of the immune system	10111	RAD50	OMIM:613078
HP:0002715	Abnormality of the immune system	7841	MOGS	OMIM:606056
HP:0002715	Abnormality of the immune system	7841	MOGS	ORPHA:79330
HP:0002715	Abnormality of the immune system	7555	CNBP	ORPHA:606
HP:0002715	Abnormality of the immune system	4478	MSN	OMIM:300988
HP:0002715	Abnormality of the immune system	51095	TRNT1	OMIM:616084
HP:0002715	Abnormality of the immune system	4796	TONSL	ORPHA:93357
HP:0002715	Abnormality of the immune system	1457	CSNK2A1	OMIM:617062
HP:0002715	Abnormality of the immune system	493856	CISD2	OMIM:604928
HP:0002715	Abnormality of the immune system	6117	RPA1	OMIM:619767
HP:0002715	Abnormality of the immune system	10165	SLC25A13	ORPHA:247598
HP:0002715	Abnormality of the immune system	6948	TCN2	ORPHA:859
HP:0002715	Abnormality of the immune system	4938	OAS1	OMIM:618042
HP:0002715	Abnormality of the immune system	9939	RBM8A	OMIM:274000
HP:0002715	Abnormality of the immune system	219285	SAMD9L	ORPHA:2585
HP:0002715	Abnormality of the immune system	55687	TRMU	OMIM:613070
HP:0002715	Abnormality of the immune system	8884	SLC5A6	OMIM:618973
HP:0002715	Abnormality of the immune system	1308	COL17A1	ORPHA:79406
HP:0002715	Abnormality of the immune system	4312	MMP1	ORPHA:79408
HP:0002715	Abnormality of the immune system	1294	COL7A1	ORPHA:79408
HP:0002715	Abnormality of the immune system	1294	COL7A1	ORPHA:79409
HP:0002715	Abnormality of the immune system	1294	COL7A1	ORPHA:79410
HP:0002715	Abnormality of the immune system	1294	COL7A1	ORPHA:79411
HP:0002715	Abnormality of the immune system	26873	OPLAH	OMIM:260005
HP:0002715	Abnormality of the immune system	253959	RALGAPA1	OMIM:618797
HP:0002715	Abnormality of the immune system	5591	PRKDC	OMIM:615966
HP:0002715	Abnormality of the immune system	2584	GALK1	ORPHA:79237
HP:0002715	Abnormality of the immune system	1678	TIMM8A	ORPHA:52368
HP:0002715	Abnormality of the immune system	3875	KRT18	OMIM:215600
HP:0002715	Abnormality of the immune system	26511	CHIC2	OMIM:601626
HP:0002715	Abnormality of the immune system	4026	LPP	OMIM:601626
HP:0002715	Abnormality of the immune system	8301	PICALM	OMIM:601626
HP:0002715	Abnormality of the immune system	8028	MLLT10	OMIM:601626
HP:0002715	Abnormality of the immune system	2322	FLT3	OMIM:601626
HP:0002715	Abnormality of the immune system	1050	CEBPA	OMIM:601626
HP:0002715	Abnormality of the immune system	2120	ETV6	OMIM:601626
HP:0002715	Abnormality of the immune system	6455	SH3GL1	OMIM:601626
HP:0002715	Abnormality of the immune system	8930	MBD4	OMIM:619975
HP:0002715	Abnormality of the immune system	10841	FTCD	OMIM:229100
HP:0002715	Abnormality of the immune system	119559	SFXN4	OMIM:615578
HP:0002715	Abnormality of the immune system	161742	SPRED1	ORPHA:137605
HP:0002715	Abnormality of the immune system	57731	SPTBN4	OMIM:617519
HP:0002715	Abnormality of the immune system	4507	MTAP	OMIM:112250
HP:0002715	Abnormality of the immune system	81839	VANGL1	OMIM:600145
HP:0002715	Abnormality of the immune system	4000	LMNA	ORPHA:2348
HP:0002715	Abnormality of the immune system	10878	CFHR3	OMIM:235400
HP:0002715	Abnormality of the immune system	3078	CFHR1	OMIM:235400
HP:0002715	Abnormality of the immune system	1387	CREBBP	ORPHA:353277
HP:0002715	Abnormality of the immune system	1387	CREBBP	ORPHA:353281
HP:0002715	Abnormality of the immune system	2033	EP300	ORPHA:353284
HP:0002715	Abnormality of the immune system	9056	SLC7A7	ORPHA:470
HP:0002715	Abnormality of the immune system	10483	SEC23B	ORPHA:201
HP:0002715	Abnormality of the immune system	6390	SDHB	ORPHA:201
HP:0002715	Abnormality of the immune system	6392	SDHD	ORPHA:201
HP:0002715	Abnormality of the immune system	6391	SDHC	ORPHA:201
HP:0002715	Abnormality of the immune system	205717	USF3	ORPHA:201
HP:0002715	Abnormality of the immune system	100144748	KLLN	ORPHA:201
HP:0002715	Abnormality of the immune system	80169	CTC1	ORPHA:1775
HP:0002715	Abnormality of the immune system	55651	NHP2	ORPHA:1775
HP:0002715	Abnormality of the immune system	79650	USB1	ORPHA:1775
HP:0002715	Abnormality of the immune system	55135	WRAP53	ORPHA:1775
HP:0002715	Abnormality of the immune system	4869	NPM1	ORPHA:1775
HP:0002715	Abnormality of the immune system	7012	TERC	ORPHA:1775
HP:0002715	Abnormality of the immune system	55505	NOP10	ORPHA:1775
HP:0002715	Abnormality of the immune system	7298	TYMS	ORPHA:1775
HP:0002715	Abnormality of the immune system	6905	TBCE	ORPHA:2323
HP:0002715	Abnormality of the immune system	1729	DIAPH1	ORPHA:477814
HP:0002715	Abnormality of the immune system	4247	MGAT2	ORPHA:79329
HP:0002715	Abnormality of the immune system	23308	ICOSLG	OMIM:620825
HP:0002715	Abnormality of the immune system	1794	DOCK2	OMIM:616433
HP:0002715	Abnormality of the immune system	90417	KNSTRN	ORPHA:221139
HP:0002715	Abnormality of the immune system	4179	CD46	OMIM:612922
HP:0002715	Abnormality of the immune system	7056	THBD	OMIM:612926
HP:0002715	Abnormality of the immune system	55690	PACS1	ORPHA:329224
HP:0002715	Abnormality of the immune system	5199	CFP	OMIM:312060
HP:0002715	Abnormality of the immune system	23545	ATP6V0A2	ORPHA:2834
HP:0002715	Abnormality of the immune system	6901	TAFAZZIN	OMIM:302060
HP:0002715	Abnormality of the immune system	210	ALAD	ORPHA:100924
HP:0002715	Abnormality of the immune system	5159	PDGFRB	OMIM:131440
HP:0002715	Abnormality of the immune system	5649	RELN	ORPHA:89844
HP:0002715	Abnormality of the immune system	10300	KATNB1	ORPHA:89844
HP:0002715	Abnormality of the immune system	435	ASL	ORPHA:23
HP:0002715	Abnormality of the immune system	63929	XPNPEP3	OMIM:613159
HP:0002715	Abnormality of the immune system	2710	GK	OMIM:307030
HP:0002715	Abnormality of the immune system	2294	FOXF1	OMIM:265380
HP:0002715	Abnormality of the immune system	3476	IGBP1	OMIM:300472
HP:0002715	Abnormality of the immune system	3763	KCNJ6	ORPHA:435628
HP:0002715	Abnormality of the immune system	3763	KCNJ6	OMIM:614098
HP:0002715	Abnormality of the immune system	5351	PLOD1	OMIM:225400
HP:0002715	Abnormality of the immune system	5351	PLOD1	ORPHA:1900
HP:0002715	Abnormality of the immune system	6477	SIAH1	OMIM:619314
HP:0002715	Abnormality of the immune system	81857	MED25	OMIM:616449
HP:0002715	Abnormality of the immune system	81857	MED25	ORPHA:464738
HP:0002715	Abnormality of the immune system	126792	B3GALT6	OMIM:609465
HP:0002715	Abnormality of the immune system	1302	COL11A2	OMIM:215150
HP:0002715	Abnormality of the immune system	10157	AASS	ORPHA:2203
HP:0002715	Abnormality of the immune system	6904	TBCD	ORPHA:496641
HP:0002715	Abnormality of the immune system	7084	TK2	ORPHA:254875
HP:0002715	Abnormality of the immune system	54681	P4HTM	OMIM:618493
HP:0002715	Abnormality of the immune system	23594	ORC6	OMIM:613803
HP:0002715	Abnormality of the immune system	2588	GALNS	OMIM:253000
HP:0002715	Abnormality of the immune system	51341	ZBTB7A	OMIM:619769
HP:0002715	Abnormality of the immune system	54941	RNF125	OMIM:616260
HP:0002715	Abnormality of the immune system	84466	MEGF10	OMIM:620249
HP:0002715	Abnormality of the immune system	871	SERPINH1	OMIM:613848
HP:0002715	Abnormality of the immune system	55294	FBXW7	OMIM:620012
HP:0002715	Abnormality of the immune system	5813	PURA	ORPHA:314655
HP:0002715	Abnormality of the immune system	4233	MET	OMIM:114550
HP:0002715	Abnormality of the immune system	8312	AXIN1	OMIM:114550
HP:0002715	Abnormality of the immune system	5157	PDGFRL	OMIM:114550
HP:0002715	Abnormality of the immune system	3482	IGF2R	OMIM:114550
HP:0002715	Abnormality of the immune system	6886	TAL1	OMIM:613065
HP:0002715	Abnormality of the immune system	6887	TAL2	OMIM:613065
HP:0002715	Abnormality of the immune system	581	BAX	OMIM:613065
HP:0002715	Abnormality of the immune system	4436	MSH2	OMIM:619096
HP:0002715	Abnormality of the immune system	4773	NFATC2	OMIM:620232
HP:0002715	Abnormality of the immune system	3587	IL10RA	OMIM:613148
HP:0002715	Abnormality of the immune system	4149	MAX	OMIM:620712
HP:0002715	Abnormality of the immune system	3588	IL10RB	OMIM:612567
HP:0002715	Abnormality of the immune system	2642	GCGR	ORPHA:438274
HP:0002715	Abnormality of the immune system	399	RHOH	OMIM:618307
HP:0002715	Abnormality of the immune system	10379	IRF9	OMIM:618648
HP:0002715	Abnormality of the immune system	25974	MMACHC	ORPHA:79282
HP:0002715	Abnormality of the immune system	8942	KYNU	ORPHA:79155
HP:0002715	Abnormality of the immune system	93	ACVR2B	OMIM:613751
HP:0002715	Abnormality of the immune system	199857	ALG14	OMIM:619036
HP:0002715	Abnormality of the immune system	4524	MTHFR	ORPHA:563609
HP:0002715	Abnormality of the immune system	57216	VANGL2	ORPHA:563609
HP:0002715	Abnormality of the immune system	81788	NUAK2	ORPHA:563609
HP:0002715	Abnormality of the immune system	7020	TFAP2A	OMIM:113620
HP:0002715	Abnormality of the immune system	6729	SRP54	OMIM:618752
HP:0002715	Abnormality of the immune system	213	ALB	ORPHA:86816
HP:0002715	Abnormality of the immune system	727897	MUC5B	OMIM:178500
HP:0002715	Abnormality of the immune system	729238	SFTPA2	OMIM:178500
HP:0002715	Abnormality of the immune system	23064	SETX	OMIM:606002
HP:0002715	Abnormality of the immune system	950	SCARB2	ORPHA:77259
HP:0002715	Abnormality of the immune system	23250	ATP11A	OMIM:619851
HP:0002715	Abnormality of the immune system	5573	PRKAR1A	ORPHA:950
HP:0002715	Abnormality of the immune system	5144	PDE4D	ORPHA:950
HP:0002715	Abnormality of the immune system	2068	ERCC2	ORPHA:1466
HP:0002715	Abnormality of the immune system	2067	ERCC1	ORPHA:1466
HP:0002715	Abnormality of the immune system	2074	ERCC6	ORPHA:1466
HP:0002715	Abnormality of the immune system	2073	ERCC5	ORPHA:1466
HP:0002715	Abnormality of the immune system	9401	RECQL4	ORPHA:221016
HP:0002715	Abnormality of the immune system	134701	RIPPLY2	ORPHA:2311
HP:0002715	Abnormality of the immune system	10683	DLL3	ORPHA:2311
HP:0002715	Abnormality of the immune system	3955	LFNG	ORPHA:2311
HP:0002715	Abnormality of the immune system	84667	HES7	ORPHA:2311
HP:0002715	Abnormality of the immune system	145873	MESP2	ORPHA:2311
HP:0002715	Abnormality of the immune system	7167	TPI1	ORPHA:868
HP:0002715	Abnormality of the immune system	6899	TBX1	ORPHA:1727
HP:0002715	Abnormality of the immune system	10225	CD96	ORPHA:1308
HP:0002715	Abnormality of the immune system	6916	TBXAS1	ORPHA:1802
HP:0002715	Abnormality of the immune system	4693	NDP	ORPHA:649
HP:0002715	Abnormality of the immune system	8517	IKBKG	ORPHA:464
HP:0002715	Abnormality of the immune system	5095	PCCA	ORPHA:35
HP:0002715	Abnormality of the immune system	5096	PCCB	ORPHA:35
HP:0002715	Abnormality of the immune system	9184	BUB3	ORPHA:1052
HP:0002715	Abnormality of the immune system	699	BUB1	ORPHA:1052
HP:0002715	Abnormality of the immune system	9702	CEP57	ORPHA:1052
HP:0002715	Abnormality of the immune system	9319	TRIP13	ORPHA:1052
HP:0002715	Abnormality of the immune system	701	BUB1B	ORPHA:1052
HP:0002715	Abnormality of the immune system	79693	YRDC	ORPHA:2065
HP:0002715	Abnormality of the immune system	51002	TPRKB	ORPHA:2065
HP:0002715	Abnormality of the immune system	84942	WDR73	ORPHA:2065
HP:0002715	Abnormality of the immune system	55644	OSGEP	ORPHA:2065
HP:0002715	Abnormality of the immune system	57122	NUP107	ORPHA:2065
HP:0002715	Abnormality of the immune system	10785	WDR4	ORPHA:2065
HP:0002715	Abnormality of the immune system	55746	NUP133	ORPHA:2065
HP:0002715	Abnormality of the immune system	84520	GON7	ORPHA:2065
HP:0002715	Abnormality of the immune system	112858	TP53RK	ORPHA:2065
HP:0002715	Abnormality of the immune system	8270	LAGE3	ORPHA:2065
HP:0002715	Abnormality of the immune system	55636	CHD7	ORPHA:138
HP:0002715	Abnormality of the immune system	9723	SEMA3E	ORPHA:138
HP:0002715	Abnormality of the immune system	3394	IRF8	ORPHA:319600
HP:0002715	Abnormality of the immune system	64682	ANAPC1	ORPHA:221008
HP:0002715	Abnormality of the immune system	54453	RIN2	OMIM:613075
HP:0002715	Abnormality of the immune system	1289	COL5A1	OMIM:130000
HP:0002715	Abnormality of the immune system	1290	COL5A2	OMIM:130010
HP:0002715	Abnormality of the immune system	4194	MDM4	OMIM:618849
HP:0002715	Abnormality of the immune system	6890	TAP1	OMIM:604571
HP:0002715	Abnormality of the immune system	79645	CLXN	OMIM:620642
HP:0002715	Abnormality of the immune system	25790	CFAP45	OMIM:619608
HP:0002715	Abnormality of the immune system	56171	DNAH7	OMIM:620356
HP:0002715	Abnormality of the immune system	6340	SCNN1G	ORPHA:171876
HP:0002715	Abnormality of the immune system	6337	SCNN1A	ORPHA:171876
HP:0002715	Abnormality of the immune system	6338	SCNN1B	ORPHA:171876
HP:0002715	Abnormality of the immune system	4644	MYO5A	OMIM:214450
HP:0002715	Abnormality of the immune system	10295	BCKDK	OMIM:614923
HP:0002715	Abnormality of the immune system	22845	DOLK	OMIM:610768
HP:0002715	Abnormality of the immune system	57152	SLURP1	ORPHA:87503
HP:0002715	Abnormality of the immune system	2683	B4GALT1	ORPHA:79332
HP:0002715	Abnormality of the immune system	51594	NBAS	OMIM:614800
HP:0002715	Abnormality of the immune system	10430	TMEM147	OMIM:620075
HP:0002715	Abnormality of the immune system	2625	GATA3	ORPHA:2237
HP:0002715	Abnormality of the immune system	4072	EPCAM	ORPHA:92050
HP:0002715	Abnormality of the immune system	105371045	PERCC1	ORPHA:92050
HP:0002715	Abnormality of the immune system	2038	EPB42	OMIM:612690
HP:0002715	Abnormality of the immune system	65055	REEP1	OMIM:620011
HP:0002715	Abnormality of the immune system	4784	NFIX	OMIM:602535
HP:0002715	Abnormality of the immune system	9342	SNAP29	OMIM:609528
HP:0002715	Abnormality of the immune system	55791	LRIF1	OMIM:619477
HP:0002715	Abnormality of the immune system	55037	PTCD3	OMIM:619057
HP:0002715	Abnormality of the immune system	10735	STAG2	ORPHA:220386
HP:0002715	Abnormality of the immune system	10735	STAG2	ORPHA:93925
HP:0002715	Abnormality of the immune system	8243	SMC1A	ORPHA:220386
HP:0002715	Abnormality of the immune system	6491	STIL	ORPHA:220386
HP:0002715	Abnormality of the immune system	6491	STIL	ORPHA:93926
HP:0002715	Abnormality of the immune system	6491	STIL	ORPHA:93924
HP:0002715	Abnormality of the immune system	6491	STIL	ORPHA:93925
HP:0002715	Abnormality of the immune system	8398	PLA2G6	ORPHA:35069
HP:0002715	Abnormality of the immune system	5048	PAFAH1B1	ORPHA:95232
HP:0002715	Abnormality of the immune system	57465	TBC1D24	ORPHA:79500
HP:0002715	Abnormality of the immune system	9896	FIG4	OMIM:216340
HP:0002715	Abnormality of the immune system	283446	MYO1H	OMIM:619482
HP:0002715	Abnormality of the immune system	80025	PANK2	ORPHA:216866
HP:0002715	Abnormality of the immune system	92935	MARS2	OMIM:616430
HP:0002715	Abnormality of the immune system	4700	NDUFA6	OMIM:618253
HP:0002715	Abnormality of the immune system	10342	TFG	ORPHA:90117
HP:0002715	Abnormality of the immune system	23007	PLCH1	ORPHA:93925
HP:0002715	Abnormality of the immune system	9420	CYP7B1	OMIM:613812
HP:0002715	Abnormality of the immune system	9780	PIEZO1	OMIM:194380
HP:0002715	Abnormality of the immune system	2990	GUSB	ORPHA:584
HP:0002715	Abnormality of the immune system	23729	SHPK	ORPHA:440713
HP:0002715	Abnormality of the immune system	10166	SLC25A15	ORPHA:415
HP:0002715	Abnormality of the immune system	9095	TBX19	ORPHA:199296
HP:0002715	Abnormality of the immune system	5236	PGM1	OMIM:614921
HP:0002715	Abnormality of the immune system	1581	CYP7A1	ORPHA:209902
HP:0002715	Abnormality of the immune system	545	ATR	OMIM:614564
HP:0002715	Abnormality of the immune system	23092	ARHGAP26	OMIM:607785
HP:0002715	Abnormality of the immune system	2266	FGG	OMIM:202400
HP:0002715	Abnormality of the immune system	2244	FGB	OMIM:202400
HP:0002715	Abnormality of the immune system	677814	SNORA31	OMIM:619396
HP:0002715	Abnormality of the immune system	3661	IRF3	OMIM:616532
HP:0002715	Abnormality of the immune system	735	C9	OMIM:613825
HP:0002715	Abnormality of the immune system	1788	DNMT3A	ORPHA:404443
HP:0002715	Abnormality of the immune system	9203	ZMYM3	OMIM:301111
HP:0002715	Abnormality of the immune system	7498	XDH	OMIM:278300
HP:0002715	Abnormality of the immune system	5832	ALDH18A1	ORPHA:90348
HP:0002715	Abnormality of the immune system	9333	TGM5	ORPHA:263534
HP:0002715	Abnormality of the immune system	1475	CSTA	ORPHA:263534
HP:0002715	Abnormality of the immune system	27086	FOXP1	ORPHA:391372
HP:0002715	Abnormality of the immune system	3604	TNFRSF9	OMIM:620282
HP:0002715	Abnormality of the immune system	3832	KIF11	ORPHA:2526
HP:0002715	Abnormality of the immune system	55243	KIRREL1	OMIM:619201
HP:0002715	Abnormality of the immune system	25959	KANK2	OMIM:617783
HP:0002715	Abnormality of the immune system	9663	LPIN2	ORPHA:77297
HP:0002715	Abnormality of the immune system	64127	NOD2	ORPHA:90340
HP:0002715	Abnormality of the immune system	6945	MLX	ORPHA:3287
HP:0002715	Abnormality of the immune system	4982	TNFRSF11B	ORPHA:1416
HP:0002715	Abnormality of the immune system	56172	ANKH	ORPHA:1416
HP:0002715	Abnormality of the immune system	84888	SPPL2A	OMIM:619549
HP:0002715	Abnormality of the immune system	6097	RORC	OMIM:616622
HP:0002715	Abnormality of the immune system	3454	IFNAR1	OMIM:619935
HP:0002715	Abnormality of the immune system	3455	IFNAR2	OMIM:616669
HP:0002715	Abnormality of the immune system	567	B2M	OMIM:241600
HP:0002715	Abnormality of the immune system	3872	KRT17	OMIM:167210
HP:0002715	Abnormality of the immune system	8558	CDK10	OMIM:617694
HP:0002715	Abnormality of the immune system	9103	FCGR2C	ORPHA:3002
HP:0002715	Abnormality of the immune system	1854	DUT	OMIM:620044
HP:0002715	Abnormality of the immune system	64220	STRA6	ORPHA:2470
HP:0002715	Abnormality of the immune system	7477	WNT7B	ORPHA:2470
HP:0002715	Abnormality of the immune system	5915	RARB	ORPHA:2470
HP:0002715	Abnormality of the immune system	2934	GSN	ORPHA:85448
HP:0002715	Abnormality of the immune system	727	C5	OMIM:609536
HP:0002715	Abnormality of the immune system	729	C6	OMIM:612446
HP:0002715	Abnormality of the immune system	9948	WDR1	OMIM:150550
HP:0002715	Abnormality of the immune system	3557	IL1RN	OMIM:612852
HP:0002715	Abnormality of the immune system	4921	DDR2	OMIM:618175
HP:0002715	Abnormality of the immune system	94	ACVRL1	OMIM:600376
HP:0002715	Abnormality of the immune system	2022	ENG	OMIM:187300
HP:0002715	Abnormality of the immune system	2261	FGFR3	OMIM:616482
HP:0002715	Abnormality of the immune system	3767	KCNJ11	ORPHA:552
HP:0002715	Abnormality of the immune system	3767	KCNJ11	ORPHA:79134
HP:0002715	Abnormality of the immune system	3767	KCNJ11	ORPHA:99885
HP:0002715	Abnormality of the immune system	3767	KCNJ11	ORPHA:99886
HP:0002715	Abnormality of the immune system	8462	KLF11	ORPHA:552
HP:0002715	Abnormality of the immune system	2645	GCK	ORPHA:552
HP:0002715	Abnormality of the immune system	2645	GCK	ORPHA:99885
HP:0002715	Abnormality of the immune system	26060	APPL1	ORPHA:552
HP:0002715	Abnormality of the immune system	640	BLK	ORPHA:552
HP:0002715	Abnormality of the immune system	1056	CEL	ORPHA:552
HP:0002715	Abnormality of the immune system	4760	NEUROD1	ORPHA:552
HP:0002715	Abnormality of the immune system	3651	PDX1	ORPHA:552
HP:0002715	Abnormality of the immune system	3651	PDX1	ORPHA:99885
HP:0002715	Abnormality of the immune system	6833	ABCC8	ORPHA:552
HP:0002715	Abnormality of the immune system	6833	ABCC8	ORPHA:79134
HP:0002715	Abnormality of the immune system	6833	ABCC8	ORPHA:99885
HP:0002715	Abnormality of the immune system	6833	ABCC8	ORPHA:99886
HP:0002715	Abnormality of the immune system	3172	HNF4A	ORPHA:552
HP:0002715	Abnormality of the immune system	3630	INS	ORPHA:552
HP:0002715	Abnormality of the immune system	3630	INS	ORPHA:99885
HP:0002715	Abnormality of the immune system	7253	TSHR	ORPHA:99819
HP:0002715	Abnormality of the immune system	7253	TSHR	ORPHA:424
HP:0002715	Abnormality of the immune system	7253	TSHR	ORPHA:90673
HP:0002715	Abnormality of the immune system	811	CALR	ORPHA:824
HP:0002715	Abnormality of the immune system	4352	MPL	ORPHA:824
HP:0002715	Abnormality of the immune system	3717	JAK2	ORPHA:824
HP:0002715	Abnormality of the immune system	54790	TET2	ORPHA:824
HP:0002715	Abnormality of the immune system	2778	GNAS	ORPHA:94089
HP:0002715	Abnormality of the immune system	2778	GNAS	ORPHA:79443
HP:0002715	Abnormality of the immune system	2778	GNAS	ORPHA:79444
HP:0002715	Abnormality of the immune system	8675	STX16	ORPHA:94089
HP:0002715	Abnormality of the immune system	7317	UBA1	OMIM:301054
HP:0002715	Abnormality of the immune system	81858	SHARPIN	OMIM:620795
HP:0002715	Abnormality of the immune system	79731	NARS2	ORPHA:79134
HP:0002715	Abnormality of the immune system	346171	ZFP57	ORPHA:99886
HP:0002715	Abnormality of the immune system	57061	HYMAI	ORPHA:99886
HP:0002715	Abnormality of the immune system	5325	PLAGL1	ORPHA:99886
HP:0002715	Abnormality of the immune system	7252	TSHB	ORPHA:90674
HP:0002715	Abnormality of the immune system	3458	IFNG	ORPHA:88
HP:0002715	Abnormality of the immune system	1439	CSF2RB	ORPHA:264675
HP:0002715	Abnormality of the immune system	1438	CSF2RA	ORPHA:264675
HP:0002715	Abnormality of the immune system	7201	TRHR	ORPHA:99832
HP:0002715	Abnormality of the immune system	8772	FADD	ORPHA:306550
HP:0002715	Abnormality of the immune system	2903	GRIN2A	ORPHA:98818
HP:0002715	Abnormality of the immune system	10134	BCAP31	ORPHA:369942
HP:0002715	Abnormality of the immune system	9742	IFT140	OMIM:266920
HP:0002715	Abnormality of the immune system	57539	WDR35	OMIM:613610
HP:0002715	Abnormality of the immune system	617	BCS1L	OMIM:124000
HP:0002715	Abnormality of the immune system	199221	DZIP1L	ORPHA:731
HP:0002715	Abnormality of the immune system	5339	PLEC	ORPHA:254361
HP:0002715	Abnormality of the immune system	1134	CHRNA1	OMIM:601462
HP:0002715	Abnormality of the immune system	1134	CHRNA1	OMIM:608930
HP:0002715	Abnormality of the immune system	5913	RAPSN	OMIM:616326
HP:0002715	Abnormality of the immune system	1140	CHRNB1	OMIM:616314
HP:0002715	Abnormality of the immune system	1140	CHRNB1	OMIM:616313
HP:0002715	Abnormality of the immune system	1145	CHRNE	OMIM:616324
HP:0002715	Abnormality of the immune system	1144	CHRND	OMIM:616323
HP:0002715	Abnormality of the immune system	9581	PREPL	OMIM:616224
HP:0002715	Abnormality of the immune system	8292	COLQ	OMIM:603034
HP:0002715	Abnormality of the immune system	285489	DOK7	OMIM:254300
HP:0002715	Abnormality of the immune system	4593	MUSK	OMIM:616325
HP:0002715	Abnormality of the immune system	8318	CDC45	OMIM:617063
HP:0002715	Abnormality of the immune system	5251	PHEX	ORPHA:89936
HP:0002715	Abnormality of the immune system	8074	FGF23	ORPHA:89937
HP:0002715	Abnormality of the immune system	1758	DMP1	ORPHA:289176
HP:0002715	Abnormality of the immune system	5167	ENPP1	ORPHA:289176
HP:0002715	Abnormality of the immune system	1747	DLX3	ORPHA:3352
HP:0002715	Abnormality of the immune system	760	CA2	ORPHA:2785
HP:0002715	Abnormality of the immune system	19	ABCA1	ORPHA:31150
HP:0002715	Abnormality of the immune system	113220	KIF12	OMIM:619662
HP:0002715	Abnormality of the immune system	5371	PML	ORPHA:520
HP:0002715	Abnormality of the immune system	5914	RARA	ORPHA:520
HP:0002715	Abnormality of the immune system	81608	FIP1L1	ORPHA:520
HP:0002715	Abnormality of the immune system	54880	BCOR	ORPHA:520
HP:0002715	Abnormality of the immune system	64859	NABP1	ORPHA:520
HP:0002715	Abnormality of the immune system	4926	NUMA1	ORPHA:520
HP:0002715	Abnormality of the immune system	7704	ZBTB16	ORPHA:520
HP:0002715	Abnormality of the immune system	79718	TBL1XR1	ORPHA:520
HP:0002715	Abnormality of the immune system	10312	TCIRG1	ORPHA:210110
HP:0002715	Abnormality of the immune system	1186	CLCN7	ORPHA:210110
HP:0002715	Abnormality of the immune system	9842	PLEKHM1	ORPHA:210110
HP:0002715	Abnormality of the immune system	590	BCHE	ORPHA:132
HP:0002715	Abnormality of the immune system	6208	RPS14	ORPHA:86841
HP:0002715	Abnormality of the immune system	23451	SF3B1	ORPHA:75564
HP:0002715	Abnormality of the immune system	3939	LDHA	ORPHA:284426
HP:0002715	Abnormality of the immune system	54795	TRPM4	OMIM:618531
HP:0002715	Abnormality of the immune system	219972	MPEG1	OMIM:619223
HP:0002715	Abnormality of the immune system	3570	IL6R	OMIM:618944
HP:0002715	Abnormality of the immune system	56160	NSMCE3	OMIM:617241
HP:0002715	Abnormality of the immune system	5373	PMM2	ORPHA:79318
HP:0002715	Abnormality of the immune system	79991	STN1	OMIM:617341
HP:0002715	Abnormality of the immune system	135	ADORA2A	ORPHA:363549
HP:0002715	Abnormality of the immune system	4153	MBL2	OMIM:614372
HP:0002715	Abnormality of the immune system	4351	MPI	OMIM:602579
HP:0002715	Abnormality of the immune system	3265	HRAS	OMIM:218040
HP:0002715	Abnormality of the immune system	26040	SETBP1	OMIM:269150
HP:0002715	Abnormality of the immune system	53335	BCL11A	ORPHA:251380
HP:0002715	Abnormality of the immune system	10661	KLF1	ORPHA:251380
HP:0002715	Abnormality of the immune system	3047	HBG1	ORPHA:251380
HP:0002715	Abnormality of the immune system	3048	HBG2	ORPHA:251380
HP:0002715	Abnormality of the immune system	3579	CXCR2	OMIM:619407
HP:0002715	Abnormality of the immune system	84342	COG8	OMIM:611182
HP:0002715	Abnormality of the immune system	1777	DNASE2	OMIM:619858
HP:0002715	Abnormality of the immune system	5294	PIK3CG	OMIM:619802
HP:0002715	Abnormality of the immune system	362	AQP5	ORPHA:2337
HP:0002715	Abnormality of the immune system	6006	RHCE	ORPHA:71275
HP:0002715	Abnormality of the immune system	730	C7	OMIM:610102
HP:0002715	Abnormality of the immune system	6730	SRP68	OMIM:620534
HP:0002715	Abnormality of the immune system	2271	FH	OMIM:606812
HP:0002715	Abnormality of the immune system	84992	PIGY	OMIM:616809
HP:0002715	Abnormality of the immune system	6452	SH3BP2	OMIM:118400
HP:0002715	Abnormality of the immune system	3718	JAK3	OMIM:600802
HP:0002715	Abnormality of the immune system	9620	CELSR1	OMIM:619319
HP:0002715	Abnormality of the immune system	51163	DBR1	OMIM:619441
HP:0002715	Abnormality of the immune system	10020	GNE	OMIM:620757
HP:0002715	Abnormality of the immune system	5611	DNAJC3	OMIM:616192
HP:0002715	Abnormality of the immune system	8288	EPX	OMIM:261500
HP:0002715	Abnormality of the immune system	10621	POLR3F	OMIM:619872
HP:0002715	Abnormality of the immune system	5950	RBP4	OMIM:615147
HP:0002715	Abnormality of the immune system	23385	NCSTN	OMIM:142690
HP:0002715	Abnormality of the immune system	56983	POGLUT1	ORPHA:79145
HP:0002715	Abnormality of the immune system	23509	POFUT1	ORPHA:79145
HP:0002715	Abnormality of the immune system	25839	COG4	ORPHA:263501
HP:0002715	Abnormality of the immune system	89970	RSPRY1	ORPHA:457395
HP:0002715	Abnormality of the immune system	4558	MT-TF	ORPHA:550
HP:0002715	Abnormality of the immune system	4572	MT-TQ	ORPHA:550
HP:0002715	Abnormality of the immune system	4513	MT-CO2	ORPHA:550
HP:0002715	Abnormality of the immune system	4578	MT-TW	ORPHA:550
HP:0002715	Abnormality of the immune system	4540	MT-ND5	ORPHA:550
HP:0002715	Abnormality of the immune system	4541	MT-ND6	ORPHA:550
HP:0002715	Abnormality of the immune system	4535	MT-ND1	ORPHA:550
HP:0002715	Abnormality of the immune system	4538	MT-ND4	ORPHA:550
HP:0002715	Abnormality of the immune system	4567	MT-TL1	ORPHA:550
HP:0002715	Abnormality of the immune system	4574	MT-TS1	ORPHA:550
HP:0002715	Abnormality of the immune system	4575	MT-TS2	ORPHA:550
HP:0002715	Abnormality of the immune system	4564	MT-TH	ORPHA:550
HP:0002715	Abnormality of the immune system	1357	CPA1	ORPHA:676
HP:0002715	Abnormality of the immune system	55765	INAVA	OMIM:618077
HP:0002715	Abnormality of the immune system	2984	GUCY2C	OMIM:614616
HP:0002715	Abnormality of the immune system	1001	CDH3	ORPHA:1573
HP:0002715	Abnormality of the immune system	149233	IL23R	ORPHA:117
HP:0002715	Abnormality of the immune system	3586	IL10	ORPHA:117
HP:0002715	Abnormality of the immune system	4210	MEFV	ORPHA:117
HP:0002715	Abnormality of the immune system	1230	CCR1	ORPHA:117
HP:0002715	Abnormality of the immune system	101928376	IL12A-AS1	ORPHA:117
HP:0002715	Abnormality of the immune system	3106	HLA-B	ORPHA:117
HP:0002715	Abnormality of the immune system	7099	TLR4	ORPHA:117
HP:0002715	Abnormality of the immune system	720	C4A	ORPHA:117
HP:0002715	Abnormality of the immune system	337867	UBAC2	ORPHA:117
HP:0002715	Abnormality of the immune system	51752	ERAP1	ORPHA:117
HP:0002715	Abnormality of the immune system	8302	KLRC4	ORPHA:117
HP:0002715	Abnormality of the immune system	11005	SPINK5	ORPHA:634
HP:0002715	Abnormality of the immune system	340665	CYP26C1	ORPHA:398189
HP:0002715	Abnormality of the immune system	4221	MEN1	ORPHA:652
HP:0002715	Abnormality of the immune system	1026	CDKN1A	ORPHA:652
HP:0002715	Abnormality of the immune system	1031	CDKN2C	ORPHA:652
HP:0002715	Abnormality of the immune system	5314	PKHD1	ORPHA:53035
HP:0002715	Abnormality of the immune system	1075	CTSC	ORPHA:678
HP:0002715	Abnormality of the immune system	3105	HLA-A	ORPHA:179
HP:0002715	Abnormality of the immune system	8626	TP63	ORPHA:1896
HP:0002715	Abnormality of the immune system	224	ALDH3A2	ORPHA:816
HP:0002715	Abnormality of the immune system	57105	CYSLTR2	ORPHA:39044
HP:0002715	Abnormality of the immune system	2776	GNAQ	ORPHA:39044
HP:0002715	Abnormality of the immune system	3655	ITGA6	ORPHA:79403
HP:0002715	Abnormality of the immune system	3691	ITGB4	ORPHA:79403
HP:0002715	Abnormality of the immune system	672	BRCA1	ORPHA:1333
HP:0002715	Abnormality of the immune system	285282	RABL3	ORPHA:1333
HP:0002715	Abnormality of the immune system	675	BRCA2	ORPHA:1333
HP:0002715	Abnormality of the immune system	79728	PALB2	ORPHA:1333
HP:0002715	Abnormality of the immune system	4089	SMAD4	ORPHA:1333
HP:0002715	Abnormality of the immune system	23022	PALLD	ORPHA:1333
HP:0002715	Abnormality of the immune system	825	CAPN3	OMIM:253600
HP:0002715	Abnormality of the immune system	3181	HNRNPA2B1	OMIM:615422
HP:0002715	Abnormality of the immune system	84033	OBSCN	ORPHA:99845
HP:0002715	Abnormality of the immune system	23175	LPIN1	ORPHA:99845
HP:0002715	Abnormality of the immune system	4512	MT-CO1	ORPHA:99845
HP:0002715	Abnormality of the immune system	4514	MT-CO3	ORPHA:99845
HP:0002715	Abnormality of the immune system	3662	IRF4	ORPHA:3452
HP:0002715	Abnormality of the immune system	3908	LAMA2	ORPHA:258
HP:0002715	Abnormality of the immune system	22900	CARD8	OMIM:619079
HP:0002715	Abnormality of the immune system	60684	TRAPPC11	OMIM:615356
HP:0002715	Abnormality of the immune system	81031	SLC2A10	ORPHA:3342
HP:0002715	Abnormality of the immune system	9719	ADAMTSL2	ORPHA:1901
HP:0002715	Abnormality of the immune system	9509	ADAMTS2	ORPHA:1901
HP:0002715	Abnormality of the immune system	2887	GRB10	ORPHA:96182
HP:0002715	Abnormality of the immune system	2743	GLRB	ORPHA:3197
HP:0002715	Abnormality of the immune system	2741	GLRA1	ORPHA:3197
HP:0002715	Abnormality of the immune system	10243	GPHN	ORPHA:3197
HP:0002715	Abnormality of the immune system	84896	ATAD1	ORPHA:3197
HP:0002715	Abnormality of the immune system	9152	SLC6A5	ORPHA:3197
HP:0002715	Abnormality of the immune system	7543	ZFX	OMIM:301118
HP:0002715	Abnormality of the immune system	5723	PSPH	ORPHA:79350
HP:0002715	Abnormality of the immune system	26227	PHGDH	ORPHA:79351
HP:0002715	Abnormality of the immune system	7038	TG	OMIM:608175
HP:0002715	Abnormality of the immune system	57623	ZFAT	OMIM:608175
HP:0002715	Abnormality of the immune system	9692	PRORP	OMIM:619737
HP:0002715	Abnormality of the immune system	8974	P4HA2	ORPHA:397
HP:0002715	Abnormality of the immune system	695	BTK	ORPHA:47
HP:0002715	Abnormality of the immune system	5290	PIK3CA	ORPHA:276280
HP:0002715	Abnormality of the immune system	998	CDC42	ORPHA:487796
HP:0002715	Abnormality of the immune system	54345	SOX18	ORPHA:69735
HP:0002715	Abnormality of the immune system	2050	EPHB4	ORPHA:137667
HP:0002715	Abnormality of the immune system	5921	RASA1	ORPHA:137667
HP:0002715	Abnormality of the immune system	8314	BAP1	ORPHA:618
HP:0002715	Abnormality of the immune system	4286	MITF	ORPHA:618
HP:0002715	Abnormality of the immune system	1019	CDK4	ORPHA:618
HP:0002715	Abnormality of the immune system	4255	MGMT	ORPHA:618
HP:0002715	Abnormality of the immune system	54386	TERF2IP	ORPHA:618
HP:0002715	Abnormality of the immune system	4157	MC1R	ORPHA:618
HP:0002715	Abnormality of the immune system	65057	ACD	ORPHA:618
HP:0002715	Abnormality of the immune system	1029	CDKN2A	ORPHA:618
HP:0002715	Abnormality of the immune system	7015	TERT	ORPHA:618
HP:0002715	Abnormality of the immune system	25913	POT1	ORPHA:618
HP:0002715	Abnormality of the immune system	1030	CDKN2B	ORPHA:618
HP:0002715	Abnormality of the immune system	22800	RRAS2	ORPHA:648
HP:0002715	Abnormality of the immune system	867	CBL	ORPHA:648
HP:0002715	Abnormality of the immune system	8216	LZTR1	ORPHA:648
HP:0002715	Abnormality of the immune system	6016	RIT1	ORPHA:648
HP:0002715	Abnormality of the immune system	6237	RRAS	ORPHA:648
HP:0002715	Abnormality of the immune system	5894	RAF1	ORPHA:648
HP:0002715	Abnormality of the immune system	22808	MRAS	ORPHA:648
HP:0002715	Abnormality of the immune system	3845	KRAS	ORPHA:648
HP:0002715	Abnormality of the immune system	200734	SPRED2	ORPHA:648
HP:0002715	Abnormality of the immune system	4893	NRAS	ORPHA:648
HP:0002715	Abnormality of the immune system	6654	SOS1	ORPHA:648
HP:0002715	Abnormality of the immune system	6655	SOS2	ORPHA:648
HP:0002715	Abnormality of the immune system	5781	PTPN11	ORPHA:648
HP:0002715	Abnormality of the immune system	5922	RASA2	ORPHA:648
HP:0002715	Abnormality of the immune system	7248	TSC1	ORPHA:538
HP:0002715	Abnormality of the immune system	7249	TSC2	ORPHA:538
HP:0002715	Abnormality of the immune system	5605	MAP2K2	ORPHA:638
HP:0002715	Abnormality of the immune system	4763	NF1	ORPHA:638
HP:0002715	Abnormality of the immune system	207	AKT1	OMIM:176920
HP:0002715	Abnormality of the immune system	207	AKT1	ORPHA:744
HP:0002715	Abnormality of the immune system	9508	ADAMTS3	ORPHA:2136
HP:0002715	Abnormality of the immune system	147372	CCBE1	ORPHA:2136
HP:0002715	Abnormality of the immune system	79633	FAT4	ORPHA:2136
HP:0002715	Abnormality of the immune system	80781	COL18A1	ORPHA:1571
HP:0002715	Abnormality of the immune system	5062	PAK2	ORPHA:1571
HP:0002715	Abnormality of the immune system	5745	PTH1R	ORPHA:296
HP:0002715	Abnormality of the immune system	3418	IDH2	ORPHA:296
HP:0002715	Abnormality of the immune system	3425	IDUA	ORPHA:93473
HP:0002715	Abnormality of the immune system	3425	IDUA	ORPHA:93476
HP:0002715	Abnormality of the immune system	3909	LAMA3	ORPHA:79404
HP:0002715	Abnormality of the immune system	3918	LAMC2	ORPHA:79404
HP:0002715	Abnormality of the immune system	3914	LAMB3	ORPHA:79404
HP:0002715	Abnormality of the immune system	215	ABCD1	ORPHA:388
HP:0002715	Abnormality of the immune system	5979	RET	ORPHA:388
HP:0002715	Abnormality of the immune system	2668	GDNF	ORPHA:388
HP:0002715	Abnormality of the immune system	6608	SMO	ORPHA:388
HP:0002715	Abnormality of the immune system	1889	ECE1	ORPHA:388
HP:0002715	Abnormality of the immune system	6720	SREBF1	ORPHA:388
HP:0002715	Abnormality of the immune system	1908	EDN3	ORPHA:388
HP:0002715	Abnormality of the immune system	223117	SEMA3D	ORPHA:388
HP:0002715	Abnormality of the immune system	538	ATP7A	ORPHA:388
HP:0002715	Abnormality of the immune system	538	ATP7A	ORPHA:565
HP:0002715	Abnormality of the immune system	1910	EDNRB	ORPHA:388
HP:0002715	Abnormality of the immune system	10512	SEMA3C	ORPHA:388
HP:0002715	Abnormality of the immune system	2064	ERBB2	ORPHA:388
HP:0002715	Abnormality of the immune system	2065	ERBB3	ORPHA:388
HP:0002715	Abnormality of the immune system	4902	NRTN	ORPHA:388
HP:0002715	Abnormality of the immune system	939	CD27	OMIM:615122
HP:0002715	Abnormality of the immune system	3162	HMOX1	OMIM:614034
HP:0002715	Abnormality of the immune system	2137	EXTL3	OMIM:617425
HP:0002715	Abnormality of the immune system	65082	VPS33A	OMIM:617303
HP:0002715	Abnormality of the immune system	65082	VPS33A	ORPHA:505248
HP:0002715	Abnormality of the immune system	29927	SEC61A1	OMIM:620674
HP:0002715	Abnormality of the immune system	29927	SEC61A1	OMIM:620670
HP:0002715	Abnormality of the immune system	4689	NCF4	ORPHA:379
HP:0002715	Abnormality of the immune system	79415	CYBC1	ORPHA:379
HP:0002715	Abnormality of the immune system	1991	ELANE	ORPHA:2686
HP:0002715	Abnormality of the immune system	3417	IDH1	ORPHA:99646
HP:0002715	Abnormality of the immune system	2592	GALT	ORPHA:79239
HP:0002715	Abnormality of the immune system	10320	IKZF1	ORPHA:36426
HP:0002715	Abnormality of the immune system	1351	COX8A	OMIM:619059
HP:0002715	Abnormality of the immune system	4615	MYD88	OMIM:612260
HP:0002715	Abnormality of the immune system	50619	DEF6	OMIM:619573
HP:0002715	Abnormality of the immune system	92579	G6PC3	OMIM:612541
HP:0002715	Abnormality of the immune system	130589	GALM	ORPHA:570422
HP:0002715	Abnormality of the immune system	713	C1QB	OMIM:620321
HP:0002715	Abnormality of the immune system	7852	CXCR4	ORPHA:51636
HP:0002715	Abnormality of the immune system	151516	ASPRV1	ORPHA:313
HP:0002715	Abnormality of the immune system	242	ALOX12B	ORPHA:313
HP:0002715	Abnormality of the immune system	126410	CYP4F22	ORPHA:313
HP:0002715	Abnormality of the immune system	6820	SULT2B1	ORPHA:313
HP:0002715	Abnormality of the immune system	26154	ABCA12	ORPHA:313
HP:0002715	Abnormality of the immune system	643418	LIPN	ORPHA:313
HP:0002715	Abnormality of the immune system	59344	ALOXE3	ORPHA:313
HP:0002715	Abnormality of the immune system	348938	NIPAL4	ORPHA:313
HP:0002715	Abnormality of the immune system	121214	SDR9C7	ORPHA:313
HP:0002715	Abnormality of the immune system	7051	TGM1	ORPHA:313
HP:0002715	Abnormality of the immune system	10804	GJB6	ORPHA:477
HP:0002715	Abnormality of the immune system	2706	GJB2	ORPHA:477
HP:0002715	Abnormality of the immune system	1499	CTNNB1	ORPHA:873
HP:0002715	Abnormality of the immune system	324	APC	ORPHA:873
HP:0002715	Abnormality of the immune system	10664	CTCF	ORPHA:363611
HP:0002715	Abnormality of the immune system	54809	SAMD9	OMIM:617053
HP:0002715	Abnormality of the immune system	3852	KRT5	OMIM:619599
HP:0002715	Abnormality of the immune system	3852	KRT5	ORPHA:79396
HP:0002715	Abnormality of the immune system	54914	FOCAD	OMIM:619991
HP:0002715	Abnormality of the immune system	9681	DEPDC5	OMIM:620504
HP:0002715	Abnormality of the immune system	83706	FERMT3	OMIM:612840
HP:0002715	Abnormality of the immune system	54440	SASH3	OMIM:301082
HP:0002715	Abnormality of the immune system	130340	AP1S3	ORPHA:247353
HP:0002715	Abnormality of the immune system	26525	IL36RN	ORPHA:247353
HP:0002715	Abnormality of the immune system	25802	LMOD1	OMIM:619362
HP:0002715	Abnormality of the immune system	25802	LMOD1	ORPHA:2241
HP:0002715	Abnormality of the immune system	4629	MYH11	ORPHA:2241
HP:0002715	Abnormality of the immune system	72	ACTG2	ORPHA:2241
HP:0002715	Abnormality of the immune system	4638	MYLK	ORPHA:2241
HP:0002715	Abnormality of the immune system	2215	FCGR3B	ORPHA:464370
HP:0002715	Abnormality of the immune system	6440	SFTPC	ORPHA:685082
HP:0002715	Abnormality of the immune system	21	ABCA3	ORPHA:685082
HP:0002715	Abnormality of the immune system	6439	SFTPB	ORPHA:685082
HP:0002715	Abnormality of the immune system	5317	PKP1	ORPHA:158668
HP:0002715	Abnormality of the immune system	6603	SMARCD2	OMIM:617475
HP:0002715	Abnormality of the immune system	204	AK2	OMIM:267500
HP:0002715	Abnormality of the immune system	204	AK2	ORPHA:33355
HP:0002715	Abnormality of the immune system	8565	YARS1	OMIM:619418
HP:0002715	Abnormality of the immune system	57591	MRTFA	OMIM:618847
HP:0002715	Abnormality of the immune system	5824	PEX19	OMIM:614886
HP:0002715	Abnormality of the immune system	3110	MNX1	OMIM:176450
HP:0002715	Abnormality of the immune system	79087	ALG12	ORPHA:79324
HP:0002715	Abnormality of the immune system	11342	RNF13	ORPHA:544503
HP:0002715	Abnormality of the immune system	3861	KRT14	ORPHA:79396
HP:0002715	Abnormality of the immune system	55851	PSENEN	OMIM:613736
HP:0002715	Abnormality of the immune system	5663	PSEN1	OMIM:613737
HP:0002715	Abnormality of the immune system	861	RUNX1	ORPHA:98850
HP:0002715	Abnormality of the immune system	6427	SRSF2	ORPHA:98850
HP:0002715	Abnormality of the immune system	3815	KIT	ORPHA:79455
HP:0002715	Abnormality of the immune system	1508	CTSB	ORPHA:50943
HP:0002715	Abnormality of the immune system	23600	AMACR	ORPHA:79095
HP:0002715	Abnormality of the immune system	23600	AMACR	OMIM:214950
HP:0002715	Abnormality of the immune system	63894	VIPAS39	OMIM:613404
HP:0002715	Abnormality of the immune system	2737	GLI3	ORPHA:672
HP:0002715	Abnormality of the immune system	29969	MDFIC	OMIM:620014
HP:0002715	Abnormality of the immune system	55777	MBD5	OMIM:156200
HP:0002715	Abnormality of the immune system	1650	DDOST	ORPHA:300536
HP:0002715	Abnormality of the immune system	1650	DDOST	OMIM:614507
HP:0002715	Abnormality of the immune system	3952	LEP	OMIM:614962
HP:0002715	Abnormality of the immune system	2273	FHL1	OMIM:300280
HP:0002715	Abnormality of the immune system	4088	SMAD3	OMIM:613795
HP:0002715	Abnormality of the immune system	7046	TGFBR1	OMIM:609192
HP:0002715	Abnormality of the immune system	7042	TGFB2	OMIM:614816
HP:0002715	Abnormality of the immune system	7043	TGFB3	OMIM:615582
HP:0002715	Abnormality of the immune system	51645	PPIL1	OMIM:619301
HP:0002715	Abnormality of the immune system	51362	CDC40	OMIM:619302
HP:0002715	Abnormality of the immune system	9158	FIBP	ORPHA:500095
HP:0002715	Abnormality of the immune system	55553	SOX6	OMIM:618971
HP:0002715	Abnormality of the immune system	816	CAMK2B	OMIM:617799
HP:0002715	Abnormality of the immune system	10060	ABCC9	OMIM:619719
HP:0002715	Abnormality of the immune system	93587	TRMT10A	OMIM:616033
HP:0002715	Abnormality of the immune system	5698	PSMB9	OMIM:620796
HP:0010987	Abnormal cellular immune system morphology	6901	TAFAZZIN	ORPHA:111
HP:0010987	Abnormal cellular immune system morphology	3106	HLA-B	ORPHA:36426
HP:0010987	Abnormal cellular immune system morphology	80169	CTC1	ORPHA:1775
HP:0010987	Abnormal cellular immune system morphology	55651	NHP2	ORPHA:1775
HP:0010987	Abnormal cellular immune system morphology	55135	WRAP53	ORPHA:1775
HP:0010987	Abnormal cellular immune system morphology	7298	TYMS	ORPHA:1775
HP:0010987	Abnormal cellular immune system morphology	1536	CYBB	ORPHA:379
HP:0010987	Abnormal cellular immune system morphology	4688	NCF2	ORPHA:379
HP:0010987	Abnormal cellular immune system morphology	1535	CYBA	ORPHA:379
HP:0010987	Abnormal cellular immune system morphology	4689	NCF4	ORPHA:379
HP:0010987	Abnormal cellular immune system morphology	653361	NCF1	ORPHA:379
HP:0010987	Abnormal cellular immune system morphology	1729	DIAPH1	ORPHA:494444
HP:0010987	Abnormal cellular immune system morphology	1441	CSF3R	OMIM:617014
HP:0010987	Abnormal cellular immune system morphology	23241	PACS2	OMIM:618067
HP:0010987	Abnormal cellular immune system morphology	959	CD40LG	OMIM:308230
HP:0010987	Abnormal cellular immune system morphology	10559	SLC35A1	ORPHA:238459
HP:0010987	Abnormal cellular immune system morphology	10559	SLC35A1	OMIM:603585
HP:0010987	Abnormal cellular immune system morphology	4552	MTRR	ORPHA:2169
HP:0010987	Abnormal cellular immune system morphology	55788	LMBRD1	OMIM:277380
HP:0010987	Abnormal cellular immune system morphology	55788	LMBRD1	ORPHA:79284
HP:0010987	Abnormal cellular immune system morphology	2122	MECOM	OMIM:616738
HP:0010987	Abnormal cellular immune system morphology	8029	CUBN	ORPHA:35858
HP:0010987	Abnormal cellular immune system morphology	81693	AMN	ORPHA:35858
HP:0010987	Abnormal cellular immune system morphology	2530	FUT8	OMIM:618005
HP:0010987	Abnormal cellular immune system morphology	7037	TFRC	OMIM:616740
HP:0010987	Abnormal cellular immune system morphology	816	CAMK2B	OMIM:617799
HP:0010987	Abnormal cellular immune system morphology	28956	LAMTOR2	ORPHA:90023
HP:0010987	Abnormal cellular immune system morphology	28956	LAMTOR2	OMIM:610798
HP:0010987	Abnormal cellular immune system morphology	5095	PCCA	OMIM:606054
HP:0010987	Abnormal cellular immune system morphology	5096	PCCB	OMIM:606054
HP:0010987	Abnormal cellular immune system morphology	112812	FDX2	OMIM:251900
HP:0010987	Abnormal cellular immune system morphology	958	CD40	OMIM:606843
HP:0010987	Abnormal cellular immune system morphology	4700	NDUFA6	OMIM:618253
HP:0010987	Abnormal cellular immune system morphology	5826	ABCD4	OMIM:614857
HP:0010987	Abnormal cellular immune system morphology	4548	MTR	OMIM:250940
HP:0010987	Abnormal cellular immune system morphology	326625	MMAB	OMIM:251110
HP:0010987	Abnormal cellular immune system morphology	2328	FMO3	OMIM:602079
HP:0010987	Abnormal cellular immune system morphology	9997	SCO2	OMIM:604377
HP:0010987	Abnormal cellular immune system morphology	8943	AP3D1	OMIM:617050
HP:0010987	Abnormal cellular immune system morphology	148867	SLC30A7	OMIM:620501
HP:0010987	Abnormal cellular immune system morphology	4796	TONSL	ORPHA:93357
HP:0010987	Abnormal cellular immune system morphology	4796	TONSL	OMIM:271510
HP:0010987	Abnormal cellular immune system morphology	166785	MMAA	OMIM:251100
HP:0010987	Abnormal cellular immune system morphology	25839	COG4	OMIM:618150
HP:0010987	Abnormal cellular immune system morphology	150274	HSCB	OMIM:619523
HP:0010987	Abnormal cellular immune system morphology	2937	GSS	OMIM:266130
HP:0010987	Abnormal cellular immune system morphology	6603	SMARCD2	OMIM:617475
HP:0010987	Abnormal cellular immune system morphology	84522	JAGN1	OMIM:616022
HP:0010987	Abnormal cellular immune system morphology	25974	MMACHC	ORPHA:79282
HP:0010987	Abnormal cellular immune system morphology	25974	MMACHC	OMIM:277400
HP:0010987	Abnormal cellular immune system morphology	51567	TDP2	OMIM:616949
HP:0010987	Abnormal cellular immune system morphology	833	CARS1	ORPHA:33364
HP:0010987	Abnormal cellular immune system morphology	2068	ERCC2	ORPHA:33364
HP:0010987	Abnormal cellular immune system morphology	7737	RNF113A	ORPHA:33364
HP:0010987	Abnormal cellular immune system morphology	136647	MPLKIP	ORPHA:33364
HP:0010987	Abnormal cellular immune system morphology	6897	TARS1	ORPHA:33364
HP:0010987	Abnormal cellular immune system morphology	16	AARS1	ORPHA:33364
HP:0010987	Abnormal cellular immune system morphology	2071	ERCC3	ORPHA:33364
HP:0010987	Abnormal cellular immune system morphology	2961	GTF2E2	ORPHA:33364
HP:0010987	Abnormal cellular immune system morphology	27429	HTRA2	OMIM:617248
HP:0010987	Abnormal cellular immune system morphology	7319	UBE2A	ORPHA:163956
HP:0010987	Abnormal cellular immune system morphology	55294	FBXW7	OMIM:620012
HP:0010987	Abnormal cellular immune system morphology	78987	CRELD1	OMIM:620771
HP:0010987	Abnormal cellular immune system morphology	5052	PRDX1	OMIM:277400
HP:0010987	Abnormal cellular immune system morphology	7922	SLC39A7	ORPHA:33110
HP:0010987	Abnormal cellular immune system morphology	6688	SPI1	ORPHA:33110
HP:0010987	Abnormal cellular immune system morphology	56262	LRRC8A	ORPHA:33110
HP:0010987	Abnormal cellular immune system morphology	2859	GPR35	ORPHA:171
HP:0010987	Abnormal cellular immune system morphology	10507	SEMA4D	ORPHA:171
HP:0010987	Abnormal cellular immune system morphology	4485	MST1	ORPHA:171
HP:0010987	Abnormal cellular immune system morphology	6925	TCF4	ORPHA:171
HP:0010987	Abnormal cellular immune system morphology	30009	TBX21	OMIM:619630
HP:0010987	Abnormal cellular immune system morphology	100151683	RNU4ATAC	ORPHA:353298
HP:0010987	Abnormal cellular immune system morphology	100151683	RNU4ATAC	OMIM:616651
HP:0010987	Abnormal cellular immune system morphology	825	CAPN3	OMIM:253600
HP:0010987	Abnormal cellular immune system morphology	1041	CDSN	OMIM:270300
HP:0010987	Abnormal cellular immune system morphology	6720	SREBF1	OMIM:158310
HP:0010987	Abnormal cellular immune system morphology	3716	JAK1	OMIM:618999
HP:0010987	Abnormal cellular immune system morphology	84905	ZNF341	OMIM:618282
HP:0010987	Abnormal cellular immune system morphology	10999	SLC27A4	ORPHA:88621
HP:0010987	Abnormal cellular immune system morphology	3394	IRF8	OMIM:226990
HP:0010987	Abnormal cellular immune system morphology	84433	CARD11	OMIM:617638
HP:0010987	Abnormal cellular immune system morphology	81704	DOCK8	OMIM:243700
HP:0010987	Abnormal cellular immune system morphology	5699	PSMB10	OMIM:620807
HP:0010987	Abnormal cellular immune system morphology	6778	STAT6	OMIM:620532
HP:0010987	Abnormal cellular immune system morphology	1130	LYST	ORPHA:167
HP:0010987	Abnormal cellular immune system morphology	1186	CLCN7	ORPHA:53
HP:0010987	Abnormal cellular immune system morphology	51750	RTEL1	ORPHA:3322
HP:0010987	Abnormal cellular immune system morphology	65057	ACD	ORPHA:3322
HP:0010987	Abnormal cellular immune system morphology	5073	PARN	ORPHA:3322
HP:0010987	Abnormal cellular immune system morphology	7015	TERT	ORPHA:3322
HP:0010987	Abnormal cellular immune system morphology	26277	TINF2	ORPHA:3322
HP:0010987	Abnormal cellular immune system morphology	1736	DKC1	ORPHA:3322
HP:0010987	Abnormal cellular immune system morphology	3930	LBR	ORPHA:1426
HP:0010987	Abnormal cellular immune system morphology	128	ADH5	OMIM:619151
HP:0010987	Abnormal cellular immune system morphology	3155	HMGCL	ORPHA:20
HP:0010987	Abnormal cellular immune system morphology	5238	PGM3	ORPHA:443811
HP:0010987	Abnormal cellular immune system morphology	5880	RAC2	OMIM:618986
HP:0010987	Abnormal cellular immune system morphology	3659	IRF1	OMIM:620668
HP:0010987	Abnormal cellular immune system morphology	6775	STAT4	ORPHA:93552
HP:0010987	Abnormal cellular immune system morphology	6775	STAT4	ORPHA:536
HP:0010987	Abnormal cellular immune system morphology	6696	SPP1	ORPHA:93552
HP:0010987	Abnormal cellular immune system morphology	6696	SPP1	ORPHA:536
HP:0010987	Abnormal cellular immune system morphology	6303	SAT1	ORPHA:93552
HP:0010987	Abnormal cellular immune system morphology	3654	IRAK1	ORPHA:93552
HP:0010987	Abnormal cellular immune system morphology	3654	IRAK1	ORPHA:536
HP:0010987	Abnormal cellular immune system morphology	6916	TBXAS1	OMIM:231095
HP:0010987	Abnormal cellular immune system morphology	6165	RPL35A	OMIM:612528
HP:0010987	Abnormal cellular immune system morphology	6165	RPL35A	ORPHA:124
HP:0010987	Abnormal cellular immune system morphology	79650	USB1	OMIM:604173
HP:0010987	Abnormal cellular immune system morphology	55593	OTUD5	OMIM:301056
HP:0010987	Abnormal cellular immune system morphology	5604	MAP2K1	ORPHA:389
HP:0010987	Abnormal cellular immune system morphology	673	BRAF	ORPHA:389
HP:0010987	Abnormal cellular immune system morphology	114803	MYSM1	ORPHA:508542
HP:0010987	Abnormal cellular immune system morphology	114803	MYSM1	OMIM:618116
HP:0010987	Abnormal cellular immune system morphology	65082	VPS33A	OMIM:617303
HP:0010987	Abnormal cellular immune system morphology	65082	VPS33A	ORPHA:505248
HP:0010987	Abnormal cellular immune system morphology	2215	FCGR3B	ORPHA:536
HP:0010987	Abnormal cellular immune system morphology	3684	ITGAM	ORPHA:536
HP:0010987	Abnormal cellular immune system morphology	3586	IL10	ORPHA:536
HP:0010987	Abnormal cellular immune system morphology	221895	JAZF1	ORPHA:536
HP:0010987	Abnormal cellular immune system morphology	11277	TREX1	ORPHA:536
HP:0010987	Abnormal cellular immune system morphology	11277	TREX1	OMIM:152700
HP:0010987	Abnormal cellular immune system morphology	7292	TNFSF4	ORPHA:536
HP:0010987	Abnormal cellular immune system morphology	640	BLK	ORPHA:536
HP:0010987	Abnormal cellular immune system morphology	720	C4A	ORPHA:536
HP:0010987	Abnormal cellular immune system morphology	55024	BANK1	ORPHA:536
HP:0010987	Abnormal cellular immune system morphology	3500	IGHG1	ORPHA:536
HP:0010987	Abnormal cellular immune system morphology	26191	PTPN22	ORPHA:536
HP:0010987	Abnormal cellular immune system morphology	26191	PTPN22	OMIM:152700
HP:0010987	Abnormal cellular immune system morphology	1380	CR2	ORPHA:536
HP:0010987	Abnormal cellular immune system morphology	5133	PDCD1	ORPHA:536
HP:0010987	Abnormal cellular immune system morphology	2113	ETS1	ORPHA:536
HP:0010987	Abnormal cellular immune system morphology	2213	FCGR2B	ORPHA:536
HP:0010987	Abnormal cellular immune system morphology	2213	FCGR2B	OMIM:152700
HP:0010987	Abnormal cellular immune system morphology	10318	TNIP1	ORPHA:536
HP:0010987	Abnormal cellular immune system morphology	7332	UBE2L3	ORPHA:536
HP:0010987	Abnormal cellular immune system morphology	79932	KIAA0319L	ORPHA:536
HP:0010987	Abnormal cellular immune system morphology	4204	MECP2	ORPHA:536
HP:0010987	Abnormal cellular immune system morphology	3663	IRF5	ORPHA:536
HP:0010987	Abnormal cellular immune system morphology	3123	HLA-DRB1	ORPHA:536
HP:0010987	Abnormal cellular immune system morphology	3123	HLA-DRB1	ORPHA:797
HP:0010987	Abnormal cellular immune system morphology	721	C4B	ORPHA:536
HP:0010987	Abnormal cellular immune system morphology	1773	DNASE1	ORPHA:536
HP:0010987	Abnormal cellular immune system morphology	1773	DNASE1	OMIM:152700
HP:0010987	Abnormal cellular immune system morphology	51284	TLR7	ORPHA:536
HP:0010987	Abnormal cellular immune system morphology	51284	TLR7	OMIM:301080
HP:0010987	Abnormal cellular immune system morphology	54899	PXK	ORPHA:536
HP:0010987	Abnormal cellular immune system morphology	7128	TNFAIP3	ORPHA:536
HP:0010987	Abnormal cellular immune system morphology	2188	FANCF	OMIM:603467
HP:0010987	Abnormal cellular immune system morphology	2188	FANCF	ORPHA:84
HP:0010987	Abnormal cellular immune system morphology	537	ATP6AP1	OMIM:300972
HP:0010987	Abnormal cellular immune system morphology	6208	RPS14	ORPHA:86841
HP:0010987	Abnormal cellular immune system morphology	3988	LIPA	OMIM:278000
HP:0010987	Abnormal cellular immune system morphology	92579	G6PC3	OMIM:612541
HP:0010987	Abnormal cellular immune system morphology	340061	STING1	OMIM:615934
HP:0010987	Abnormal cellular immune system morphology	672	BRCA1	ORPHA:84
HP:0010987	Abnormal cellular immune system morphology	10459	MAD2L2	ORPHA:84
HP:0010987	Abnormal cellular immune system morphology	7516	XRCC2	ORPHA:84
HP:0010987	Abnormal cellular immune system morphology	29089	UBE2T	ORPHA:84
HP:0010987	Abnormal cellular immune system morphology	675	BRCA2	ORPHA:84
HP:0010987	Abnormal cellular immune system morphology	55120	FANCL	ORPHA:84
HP:0010987	Abnormal cellular immune system morphology	2187	FANCB	ORPHA:84
HP:0010987	Abnormal cellular immune system morphology	5888	RAD51	ORPHA:84
HP:0010987	Abnormal cellular immune system morphology	5889	RAD51C	ORPHA:84
HP:0010987	Abnormal cellular immune system morphology	55159	RFWD3	ORPHA:84
HP:0010987	Abnormal cellular immune system morphology	83990	BRIP1	ORPHA:84
HP:0010987	Abnormal cellular immune system morphology	57697	FANCM	ORPHA:84
HP:0010987	Abnormal cellular immune system morphology	79728	PALB2	ORPHA:84
HP:0010987	Abnormal cellular immune system morphology	84464	SLX4	ORPHA:84
HP:0010987	Abnormal cellular immune system morphology	2072	ERCC4	ORPHA:84
HP:0010987	Abnormal cellular immune system morphology	55215	FANCI	ORPHA:84
HP:0010987	Abnormal cellular immune system morphology	4594	MMUT	OMIM:251000
HP:0010987	Abnormal cellular immune system morphology	157680	VPS13B	OMIM:216550
HP:0010987	Abnormal cellular immune system morphology	5277	PIGA	ORPHA:447
HP:0010987	Abnormal cellular immune system morphology	9056	SLC7A7	OMIM:222700
HP:0010987	Abnormal cellular immune system morphology	9056	SLC7A7	ORPHA:470
HP:0010987	Abnormal cellular immune system morphology	3712	IVD	OMIM:243500
HP:0010987	Abnormal cellular immune system morphology	26258	BLOC1S6	OMIM:614171
HP:0010987	Abnormal cellular immune system morphology	51428	DDX41	OMIM:616871
HP:0010987	Abnormal cellular immune system morphology	113235	SLC46A1	OMIM:229050
HP:0010987	Abnormal cellular immune system morphology	8883	NAE1	OMIM:620210
HP:0010987	Abnormal cellular immune system morphology	760	CA2	ORPHA:2785
HP:0010987	Abnormal cellular immune system morphology	56244	BTNL2	ORPHA:797
HP:0010987	Abnormal cellular immune system morphology	54809	SAMD9	OMIM:617053
HP:0010987	Abnormal cellular immune system morphology	3702	ITK	OMIM:613011
HP:0010987	Abnormal cellular immune system morphology	54914	FOCAD	OMIM:619991
HP:0010987	Abnormal cellular immune system morphology	29927	SEC61A1	OMIM:617056
HP:0010987	Abnormal cellular immune system morphology	54440	SASH3	OMIM:301082
HP:0010987	Abnormal cellular immune system morphology	375748	ERCC6L2	OMIM:615715
HP:0010987	Abnormal cellular immune system morphology	7040	TGFB1	ORPHA:1328
HP:0010987	Abnormal cellular immune system morphology	55719	SLF2	OMIM:620184
HP:0010987	Abnormal cellular immune system morphology	5551	PRF1	OMIM:603553
HP:0010987	Abnormal cellular immune system morphology	374879	ZNF699	OMIM:619488
HP:0010987	Abnormal cellular immune system morphology	11311	VPS45	OMIM:615285
HP:0010987	Abnormal cellular immune system morphology	51816	ADA2	OMIM:615688
HP:0010987	Abnormal cellular immune system morphology	51816	ADA2	ORPHA:124
HP:0010987	Abnormal cellular immune system morphology	3516	RBPJ	ORPHA:974
HP:0010987	Abnormal cellular immune system morphology	4851	NOTCH1	ORPHA:974
HP:0010987	Abnormal cellular immune system morphology	57514	ARHGAP31	ORPHA:974
HP:0010987	Abnormal cellular immune system morphology	57572	DOCK6	ORPHA:974
HP:0010987	Abnormal cellular immune system morphology	285203	EOGT	ORPHA:974
HP:0010987	Abnormal cellular immune system morphology	54567	DLL4	ORPHA:974
HP:0010987	Abnormal cellular immune system morphology	57724	EPG5	OMIM:242840
HP:0010987	Abnormal cellular immune system morphology	204	AK2	OMIM:267500
HP:0010987	Abnormal cellular immune system morphology	204	AK2	ORPHA:33355
HP:0010987	Abnormal cellular immune system morphology	23479	ISCU	OMIM:255125
HP:0010987	Abnormal cellular immune system morphology	6138	RPL15	ORPHA:124
HP:0010987	Abnormal cellular immune system morphology	6224	RPS20	ORPHA:124
HP:0010987	Abnormal cellular immune system morphology	6132	RPL8	ORPHA:124
HP:0010987	Abnormal cellular immune system morphology	6223	RPS19	ORPHA:124
HP:0010987	Abnormal cellular immune system morphology	6232	RPS27	ORPHA:124
HP:0010987	Abnormal cellular immune system morphology	55027	HEATR3	ORPHA:124
HP:0010987	Abnormal cellular immune system morphology	6160	RPL31	ORPHA:124
HP:0010987	Abnormal cellular immune system morphology	6201	RPS7	ORPHA:124
HP:0010987	Abnormal cellular immune system morphology	6155	RPL27	ORPHA:124
HP:0010987	Abnormal cellular immune system morphology	6234	RPS28	ORPHA:124
HP:0010987	Abnormal cellular immune system morphology	6135	RPL11	ORPHA:124
HP:0010987	Abnormal cellular immune system morphology	6229	RPS24	ORPHA:124
HP:0010987	Abnormal cellular immune system morphology	6125	RPL5	ORPHA:124
HP:0010987	Abnormal cellular immune system morphology	6204	RPS10	ORPHA:124
HP:0010987	Abnormal cellular immune system morphology	2623	GATA1	ORPHA:124
HP:0010987	Abnormal cellular immune system morphology	2623	GATA1	ORPHA:79277
HP:0010987	Abnormal cellular immune system morphology	6133	RPL9	ORPHA:124
HP:0010987	Abnormal cellular immune system morphology	6231	RPS26	ORPHA:124
HP:0010987	Abnormal cellular immune system morphology	11224	RPL35	ORPHA:124
HP:0010987	Abnormal cellular immune system morphology	6218	RPS17	ORPHA:124
HP:0010987	Abnormal cellular immune system morphology	6154	RPL26	ORPHA:124
HP:0010987	Abnormal cellular immune system morphology	6210	RPS15A	ORPHA:124
HP:0010987	Abnormal cellular immune system morphology	90121	TSR2	ORPHA:124
HP:0010987	Abnormal cellular immune system morphology	6141	RPL18	ORPHA:124
HP:0010987	Abnormal cellular immune system morphology	6235	RPS29	ORPHA:124
HP:0010987	Abnormal cellular immune system morphology	6774	STAT3	ORPHA:520
HP:0010987	Abnormal cellular immune system morphology	5371	PML	ORPHA:520
HP:0010987	Abnormal cellular immune system morphology	5914	RARA	ORPHA:520
HP:0010987	Abnormal cellular immune system morphology	359948	IRF2BP2	ORPHA:520
HP:0010987	Abnormal cellular immune system morphology	81608	FIP1L1	ORPHA:520
HP:0010987	Abnormal cellular immune system morphology	4869	NPM1	ORPHA:520
HP:0010987	Abnormal cellular immune system morphology	5573	PRKAR1A	ORPHA:520
HP:0010987	Abnormal cellular immune system morphology	54880	BCOR	ORPHA:520
HP:0010987	Abnormal cellular immune system morphology	64859	NABP1	ORPHA:520
HP:0010987	Abnormal cellular immune system morphology	6777	STAT5B	ORPHA:520
HP:0010987	Abnormal cellular immune system morphology	4926	NUMA1	ORPHA:520
HP:0010987	Abnormal cellular immune system morphology	7704	ZBTB16	ORPHA:520
HP:0010987	Abnormal cellular immune system morphology	79718	TBL1XR1	ORPHA:520
HP:0010987	Abnormal cellular immune system morphology	29071	C1GALT1C1	OMIM:301110
HP:0010987	Abnormal cellular immune system morphology	2212	FCGR2A	OMIM:152700
HP:0010987	Abnormal cellular immune system morphology	5908	RAP1B	OMIM:620654
HP:0010987	Abnormal cellular immune system morphology	2582	GALE	OMIM:620776
HP:0010987	Abnormal cellular immune system morphology	54938	SARS2	OMIM:613845
HP:0010987	Abnormal cellular immune system morphology	51095	TRNT1	OMIM:616959
HP:0010987	Abnormal cellular immune system morphology	7390	UROS	ORPHA:79277
HP:0010987	Abnormal cellular immune system morphology	2629	GBA1	ORPHA:77259
HP:0010987	Abnormal cellular immune system morphology	950	SCARB2	ORPHA:77259
HP:0010987	Abnormal cellular immune system morphology	2137	EXTL3	ORPHA:508533
HP:0010987	Abnormal cellular immune system morphology	2137	EXTL3	OMIM:617425
HP:0010987	Abnormal cellular immune system morphology	355	FAS	ORPHA:3261
HP:0010987	Abnormal cellular immune system morphology	356	FASLG	ORPHA:3261
HP:0010987	Abnormal cellular immune system morphology	843	CASP10	ORPHA:3261
HP:0010987	Abnormal cellular immune system morphology	26235	FBXL4	OMIM:615471
HP:0010987	Abnormal cellular immune system morphology	5728	PTEN	OMIM:605309
HP:0010987	Abnormal cellular immune system morphology	5728	PTEN	OMIM:158350
HP:0010987	Abnormal cellular immune system morphology	54892	NCAPG2	OMIM:618460
HP:0010987	Abnormal cellular immune system morphology	23308	ICOSLG	OMIM:620825
HP:0010987	Abnormal cellular immune system morphology	9094	UNC119	OMIM:615518
HP:0010987	Abnormal cellular immune system morphology	7174	TPP2	ORPHA:444463
HP:0010987	Abnormal cellular immune system morphology	4522	MTHFD1	OMIM:617780
HP:0010987	Abnormal cellular immune system morphology	23149	FCHO1	OMIM:619164
HP:0010987	Abnormal cellular immune system morphology	11151	CORO1A	OMIM:615401
HP:0010987	Abnormal cellular immune system morphology	56259	CTNNBL1	OMIM:619846
HP:0010987	Abnormal cellular immune system morphology	9837	GINS1	OMIM:617827
HP:0010987	Abnormal cellular immune system morphology	79840	NHEJ1	ORPHA:169079
HP:0010987	Abnormal cellular immune system morphology	919	CD247	ORPHA:169160
HP:0010987	Abnormal cellular immune system morphology	54	ACP5	OMIM:607944
HP:0010987	Abnormal cellular immune system morphology	50619	DEF6	OMIM:619573
HP:0010987	Abnormal cellular immune system morphology	1503	CTPS1	OMIM:615897
HP:0010987	Abnormal cellular immune system morphology	6573	SLC19A1	OMIM:620603
HP:0010987	Abnormal cellular immune system morphology	7852	CXCR4	ORPHA:51636
HP:0010987	Abnormal cellular immune system morphology	4478	MSN	OMIM:300988
HP:0010987	Abnormal cellular immune system morphology	79415	CYBC1	OMIM:618935
HP:0010987	Abnormal cellular immune system morphology	29128	UHRF1	ORPHA:2268
HP:0010987	Abnormal cellular immune system morphology	1789	DNMT3B	ORPHA:2268
HP:0010987	Abnormal cellular immune system morphology	9841	ZBTB24	ORPHA:2268
HP:0010987	Abnormal cellular immune system morphology	4790	NFKB1	ORPHA:1572
HP:0010987	Abnormal cellular immune system morphology	8742	TNFSF12	ORPHA:1572
HP:0010987	Abnormal cellular immune system morphology	80185	TTI2	ORPHA:391307
HP:0010987	Abnormal cellular immune system morphology	10043	TOM1	OMIM:619510
HP:0010987	Abnormal cellular immune system morphology	3572	IL6ST	OMIM:619752
HP:0010987	Abnormal cellular immune system morphology	8879	SGPL1	OMIM:617575
HP:0010987	Abnormal cellular immune system morphology	9508	ADAMTS3	ORPHA:2136
HP:0010987	Abnormal cellular immune system morphology	147372	CCBE1	ORPHA:2136
HP:0010987	Abnormal cellular immune system morphology	79633	FAT4	ORPHA:2136
HP:0010987	Abnormal cellular immune system morphology	3574	IL7	OMIM:618309
HP:0010987	Abnormal cellular immune system morphology	6789	STK4	OMIM:614868
HP:0010987	Abnormal cellular immune system morphology	7036	TFR2	OMIM:604250
HP:0010987	Abnormal cellular immune system morphology	6117	RPA1	OMIM:619767
HP:0010987	Abnormal cellular immune system morphology	5294	PIK3CG	OMIM:619802
HP:0010987	Abnormal cellular immune system morphology	6948	TCN2	ORPHA:859
HP:0010987	Abnormal cellular immune system morphology	5692	PSMB4	OMIM:617591
HP:0010987	Abnormal cellular immune system morphology	4194	MDM4	OMIM:618849
HP:0010987	Abnormal cellular immune system morphology	5557	PRIM1	OMIM:620005
HP:0010987	Abnormal cellular immune system morphology	92345	NAF1	OMIM:620365
HP:0010987	Abnormal cellular immune system morphology	404672	GTF2H5	OMIM:616395
HP:0010987	Abnormal cellular immune system morphology	9652	SKIC3	ORPHA:84064
HP:0010987	Abnormal cellular immune system morphology	6499	SKIC2	ORPHA:84064
HP:0010987	Abnormal cellular immune system morphology	5297	PI4KA	OMIM:619708
HP:0010987	Abnormal cellular immune system morphology	83737	ITCH	ORPHA:228426
HP:0010987	Abnormal cellular immune system morphology	171023	ASXL1	ORPHA:98850
HP:0010987	Abnormal cellular immune system morphology	54790	TET2	ORPHA:98850
HP:0010987	Abnormal cellular immune system morphology	867	CBL	ORPHA:98850
HP:0010987	Abnormal cellular immune system morphology	861	RUNX1	ORPHA:98850
HP:0010987	Abnormal cellular immune system morphology	6427	SRSF2	ORPHA:98850
HP:0010987	Abnormal cellular immune system morphology	2177	FANCD2	OMIM:227646
HP:0010987	Abnormal cellular immune system morphology	2176	FANCC	OMIM:227645
HP:0010987	Abnormal cellular immune system morphology	2189	FANCG	OMIM:614082
HP:0010987	Abnormal cellular immune system morphology	8294	H4C9	OMIM:619951
HP:0010987	Abnormal cellular immune system morphology	6335	SCN9A	ORPHA:90026
HP:0010987	Abnormal cellular immune system morphology	11280	SCN11A	ORPHA:90026
HP:0010987	Abnormal cellular immune system morphology	6336	SCN10A	ORPHA:90026
HP:0010987	Abnormal cellular immune system morphology	2033	EP300	OMIM:180849
HP:0010987	Abnormal cellular immune system morphology	1387	CREBBP	OMIM:180849
HP:0010987	Abnormal cellular immune system morphology	9401	RECQL4	ORPHA:221016
HP:0010987	Abnormal cellular immune system morphology	7012	TERC	OMIM:614743
HP:0010987	Abnormal cellular immune system morphology	324	APC	ORPHA:99818
HP:0010987	Abnormal cellular immune system morphology	55505	NOP10	OMIM:620400
HP:0010987	Abnormal cellular immune system morphology	2065	ERBB3	OMIM:133180
HP:0010987	Abnormal cellular immune system morphology	5925	RB1	OMIM:180200
HP:0010987	Abnormal cellular immune system morphology	4292	MLH1	OMIM:276300
HP:0010987	Abnormal cellular immune system morphology	701	BUB1B	OMIM:257300
HP:0010987	Abnormal cellular immune system morphology	7157	TP53	ORPHA:524
HP:0010987	Abnormal cellular immune system morphology	1029	CDKN2A	ORPHA:524
HP:0010987	Abnormal cellular immune system morphology	4193	MDM2	ORPHA:524
HP:0010987	Abnormal cellular immune system morphology	11200	CHEK2	ORPHA:524
HP:0010987	Abnormal cellular immune system morphology	10312	TCIRG1	ORPHA:486
HP:0010987	Abnormal cellular immune system morphology	6728	SRP19	ORPHA:486
HP:0010987	Abnormal cellular immune system morphology	1991	ELANE	ORPHA:486
HP:0010987	Abnormal cellular immune system morphology	2672	GFI1	ORPHA:486
HP:0010987	Abnormal cellular immune system morphology	81570	CLPB	ORPHA:486
HP:0010987	Abnormal cellular immune system morphology	4615	MYD88	ORPHA:33226
HP:0010987	Abnormal cellular immune system morphology	4615	MYD88	OMIM:153600
HP:0010987	Abnormal cellular immune system morphology	5290	PIK3CA	OMIM:602501
HP:0010987	Abnormal cellular immune system morphology	4893	NRAS	OMIM:614470
HP:0010987	Abnormal cellular immune system morphology	3845	KRAS	OMIM:614470
HP:0010987	Abnormal cellular immune system morphology	2178	FANCE	OMIM:600901
HP:0010987	Abnormal cellular immune system morphology	2175	FANCA	OMIM:227650
HP:0010987	Abnormal cellular immune system morphology	2624	GATA2	OMIM:614038
HP:0010987	Abnormal cellular immune system morphology	3832	KIF11	ORPHA:2526
HP:0010987	Abnormal cellular immune system morphology	641	BLM	OMIM:210900
HP:0010987	Abnormal cellular immune system morphology	472	ATM	OMIM:208900
HP:0010987	Abnormal cellular immune system morphology	8216	LZTR1	OMIM:605275
HP:0010987	Abnormal cellular immune system morphology	4763	NF1	ORPHA:97685
HP:0010987	Abnormal cellular immune system morphology	134218	DNAJC21	ORPHA:811
HP:0010987	Abnormal cellular immune system morphology	79631	EFL1	ORPHA:811
HP:0010987	Abnormal cellular immune system morphology	51119	SBDS	ORPHA:811
HP:0010987	Abnormal cellular immune system morphology	23476	BRD4	ORPHA:443167
HP:0010987	Abnormal cellular immune system morphology	256646	NUTM1	ORPHA:443167
HP:0010987	Abnormal cellular immune system morphology	64682	ANAPC1	ORPHA:221008
HP:0010987	Abnormal cellular immune system morphology	51099	ABHD5	ORPHA:98907
HP:0010987	Abnormal cellular immune system morphology	114548	NLRP3	ORPHA:1451
HP:0010987	Abnormal cellular immune system morphology	26503	SLC17A5	OMIM:604369
HP:0010987	Abnormal cellular immune system morphology	26503	SLC17A5	OMIM:269920
HP:0010987	Abnormal cellular immune system morphology	57104	PNPLA2	ORPHA:565612
HP:0010987	Abnormal cellular immune system morphology	4125	MAN2B1	OMIM:248500
HP:0010987	Abnormal cellular immune system morphology	5538	PPT1	OMIM:256730
HP:0010987	Abnormal cellular immune system morphology	2517	FUCA1	OMIM:230000
HP:0010987	Abnormal cellular immune system morphology	1203	CLN5	OMIM:256731
HP:0010987	Abnormal cellular immune system morphology	1201	CLN3	OMIM:204200
HP:0010987	Abnormal cellular immune system morphology	175	AGA	OMIM:208400
HP:0010987	Abnormal cellular immune system morphology	2720	GLB1	OMIM:230500
HP:0010987	Abnormal cellular immune system morphology	4758	NEU1	OMIM:256550
HP:0010987	Abnormal cellular immune system morphology	3689	ITGB2	OMIM:116920
HP:0010987	Abnormal cellular immune system morphology	90268	OTULIN	OMIM:617099
HP:0010987	Abnormal cellular immune system morphology	27178	IL37	OMIM:619398
HP:0010987	Abnormal cellular immune system morphology	8573	CASK	OMIM:300908
HP:0010987	Abnormal cellular immune system morphology	2539	G6PD	OMIM:300908
HP:0010987	Abnormal cellular immune system morphology	4598	MVK	OMIM:260920
HP:0010987	Abnormal cellular immune system morphology	4598	MVK	OMIM:610377
HP:0010987	Abnormal cellular immune system morphology	5314	PKHD1	ORPHA:53035
HP:0010987	Abnormal cellular immune system morphology	23451	SF3B1	ORPHA:75564
HP:0010987	Abnormal cellular immune system morphology	5293	PIK3CD	OMIM:619281
HP:0010987	Abnormal cellular immune system morphology	4210	MEFV	OMIM:249100
HP:0010987	Abnormal cellular immune system morphology	4210	MEFV	ORPHA:3243
HP:0010987	Abnormal cellular immune system morphology	4210	MEFV	ORPHA:342
HP:0010987	Abnormal cellular immune system morphology	8882	ZPR1	OMIM:619321
HP:0010987	Abnormal cellular immune system morphology	3459	IFNGR1	OMIM:209950
HP:0010987	Abnormal cellular immune system morphology	81858	SHARPIN	OMIM:620795
HP:0010987	Abnormal cellular immune system morphology	5698	PSMB9	OMIM:620796
HP:0010987	Abnormal cellular immune system morphology	7132	TNFRSF1A	ORPHA:32960
HP:0010987	Abnormal cellular immune system morphology	9663	LPIN2	ORPHA:77297
HP:0010987	Abnormal cellular immune system morphology	84196	USP48	ORPHA:96253
HP:0010987	Abnormal cellular immune system morphology	9101	USP8	ORPHA:96253
HP:0010987	Abnormal cellular immune system morphology	64072	CDH23	ORPHA:96253
HP:0010987	Abnormal cellular immune system morphology	2908	NR3C1	ORPHA:96253
HP:0010987	Abnormal cellular immune system morphology	3043	HBB	OMIM:603903
HP:0010987	Abnormal cellular immune system morphology	3043	HBB	ORPHA:232
HP:0010987	Abnormal cellular immune system morphology	3043	HBB	ORPHA:231222
HP:0010987	Abnormal cellular immune system morphology	10616	RBCK1	OMIM:615895
HP:0010987	Abnormal cellular immune system morphology	6773	STAT2	OMIM:618886
HP:0010987	Abnormal cellular immune system morphology	26525	IL36RN	OMIM:614204
HP:0010987	Abnormal cellular immune system morphology	26525	IL36RN	ORPHA:247353
HP:0010987	Abnormal cellular immune system morphology	5777	PTPN6	ORPHA:3243
HP:0010987	Abnormal cellular immune system morphology	10092	ARPC5	OMIM:620565
HP:0010987	Abnormal cellular immune system morphology	22852	ANKRD26	OMIM:188000
HP:0010987	Abnormal cellular immune system morphology	57167	SALL4	ORPHA:2307
HP:0010987	Abnormal cellular immune system morphology	57167	SALL4	OMIM:147750
HP:0010987	Abnormal cellular immune system morphology	11330	CTRC	ORPHA:676
HP:0010987	Abnormal cellular immune system morphology	5644	PRSS1	ORPHA:676
HP:0010987	Abnormal cellular immune system morphology	5645	PRSS2	ORPHA:676
HP:0010987	Abnormal cellular immune system morphology	6690	SPINK1	ORPHA:676
HP:0010987	Abnormal cellular immune system morphology	55503	TRPV6	ORPHA:676
HP:0010987	Abnormal cellular immune system morphology	846	CASR	ORPHA:676
HP:0010987	Abnormal cellular immune system morphology	1080	CFTR	ORPHA:676
HP:0010987	Abnormal cellular immune system morphology	1357	CPA1	ORPHA:676
HP:0010987	Abnormal cellular immune system morphology	10367	MICU1	OMIM:615673
HP:0010987	Abnormal cellular immune system morphology	1594	CYP27B1	ORPHA:289157
HP:0010987	Abnormal cellular immune system morphology	120227	CYP2R1	ORPHA:289157
HP:0010987	Abnormal cellular immune system morphology	83706	FERMT3	OMIM:612840
HP:0010987	Abnormal cellular immune system morphology	374354	NHLRC2	OMIM:618278
HP:0010987	Abnormal cellular immune system morphology	144811	LACC1	OMIM:618795
HP:0010987	Abnormal cellular immune system morphology	130340	AP1S3	ORPHA:247353
HP:0010987	Abnormal cellular immune system morphology	91662	NLRP12	OMIM:611762
HP:0010987	Abnormal cellular immune system morphology	10551	AGR2	OMIM:620233
HP:0010987	Abnormal cellular immune system morphology	55343	SLC35C1	ORPHA:99843
HP:0010987	Abnormal cellular immune system morphology	38	ACAT1	ORPHA:134
HP:0010987	Abnormal cellular immune system morphology	5966	REL	OMIM:619652
HP:0010987	Abnormal cellular immune system morphology	139818	DOCK11	OMIM:301109
HP:0010987	Abnormal cellular immune system morphology	4938	OAS1	OMIM:618042
HP:0010987	Abnormal cellular immune system morphology	3458	IFNG	OMIM:618963
HP:0010987	Abnormal cellular immune system morphology	9939	RBM8A	OMIM:274000
HP:0010987	Abnormal cellular immune system morphology	28962	OSTM1	OMIM:259720
HP:0010987	Abnormal cellular immune system morphology	8517	IKBKG	OMIM:308300
HP:0010987	Abnormal cellular immune system morphology	4067	LYN	OMIM:620376
HP:0010987	Abnormal cellular immune system morphology	7187	TRAF3	ORPHA:1930
HP:0010987	Abnormal cellular immune system morphology	81622	UNC93B1	ORPHA:1930
HP:0010987	Abnormal cellular immune system morphology	148022	TICAM1	ORPHA:1930
HP:0010987	Abnormal cellular immune system morphology	7098	TLR3	ORPHA:1930
HP:0010987	Abnormal cellular immune system morphology	29110	TBK1	ORPHA:1930
HP:0010987	Abnormal cellular immune system morphology	10577	NPC2	OMIM:607625
HP:0010987	Abnormal cellular immune system morphology	348	APOE	ORPHA:158029
HP:0010987	Abnormal cellular immune system morphology	348	APOE	OMIM:269600
HP:0010987	Abnormal cellular immune system morphology	4864	NPC1	OMIM:257220
HP:0010987	Abnormal cellular immune system morphology	5566	PRKACA	ORPHA:289
HP:0010987	Abnormal cellular immune system morphology	5567	PRKACB	ORPHA:289
HP:0010987	Abnormal cellular immune system morphology	2735	GLI1	ORPHA:289
HP:0010987	Abnormal cellular immune system morphology	2121	EVC	ORPHA:289
HP:0010987	Abnormal cellular immune system morphology	51626	DYNC2LI1	ORPHA:289
HP:0010987	Abnormal cellular immune system morphology	132884	EVC2	ORPHA:289
HP:0010987	Abnormal cellular immune system morphology	546	ATRX	ORPHA:231401
HP:0010987	Abnormal cellular immune system morphology	10019	SH2B3	ORPHA:3318
HP:0010987	Abnormal cellular immune system morphology	811	CALR	ORPHA:3318
HP:0010987	Abnormal cellular immune system morphology	4352	MPL	ORPHA:3318
HP:0010987	Abnormal cellular immune system morphology	3717	JAK2	ORPHA:3318
HP:0010987	Abnormal cellular immune system morphology	3717	JAK2	ORPHA:729
HP:0010987	Abnormal cellular immune system morphology	412	STS	ORPHA:281090
HP:0010987	Abnormal cellular immune system morphology	7454	WAS	ORPHA:906
HP:0010987	Abnormal cellular immune system morphology	7456	WIPF1	ORPHA:906
HP:0010987	Abnormal cellular immune system morphology	7518	XRCC4	ORPHA:99812
HP:0010987	Abnormal cellular immune system morphology	7305	TYROBP	ORPHA:2770
HP:0010987	Abnormal cellular immune system morphology	54209	TREM2	ORPHA:2770
HP:0010987	Abnormal cellular immune system morphology	4683	NBN	ORPHA:647
HP:0010987	Abnormal cellular immune system morphology	9487	PIGL	ORPHA:3474
HP:0010987	Abnormal cellular immune system morphology	5295	PIK3R1	OMIM:615214
HP:0010987	Abnormal cellular immune system morphology	4860	PNP	ORPHA:760
HP:0010987	Abnormal cellular immune system morphology	973	CD79A	OMIM:613501
HP:0010987	Abnormal cellular immune system morphology	3543	IGLL1	OMIM:613500
HP:0010987	Abnormal cellular immune system morphology	29760	BLNK	OMIM:613502
HP:0010987	Abnormal cellular immune system morphology	50485	SMARCAL1	OMIM:242900
HP:0010987	Abnormal cellular immune system morphology	920	CD4	OMIM:613949
HP:0010987	Abnormal cellular immune system morphology	974	CD79B	OMIM:612692
HP:0010987	Abnormal cellular immune system morphology	3070	HELLS	OMIM:616911
HP:0010987	Abnormal cellular immune system morphology	83879	CDCA7	OMIM:616910
HP:0010987	Abnormal cellular immune system morphology	917	CD3G	OMIM:615607
HP:0010987	Abnormal cellular immune system morphology	6909	TBX2	OMIM:618223
HP:0010987	Abnormal cellular immune system morphology	915	CD3D	OMIM:615617
HP:0010987	Abnormal cellular immune system morphology	3115	HLA-DPB1	ORPHA:900
HP:0010987	Abnormal cellular immune system morphology	5657	PRTN3	ORPHA:900
HP:0010987	Abnormal cellular immune system morphology	3113	HLA-DPA1	ORPHA:900
HP:0010987	Abnormal cellular immune system morphology	84888	SPPL2A	OMIM:619549
HP:0010987	Abnormal cellular immune system morphology	7535	ZAP70	OMIM:269840
HP:0010987	Abnormal cellular immune system morphology	7535	ZAP70	OMIM:617006
HP:0010987	Abnormal cellular immune system morphology	4247	MGAT2	ORPHA:79329
HP:0010987	Abnormal cellular immune system morphology	6772	STAT1	OMIM:614162
HP:0010987	Abnormal cellular immune system morphology	3718	JAK3	OMIM:600802
HP:0010987	Abnormal cellular immune system morphology	3718	JAK3	ORPHA:35078
HP:0010987	Abnormal cellular immune system morphology	57217	TTC7A	OMIM:243150
HP:0010987	Abnormal cellular immune system morphology	55388	MCM10	OMIM:619313
HP:0010987	Abnormal cellular immune system morphology	5971	RELB	OMIM:617585
HP:0010987	Abnormal cellular immune system morphology	5994	RFXAP	OMIM:620817
HP:0010987	Abnormal cellular immune system morphology	5788	PTPRC	OMIM:619924
HP:0010987	Abnormal cellular immune system morphology	64919	BCL11B	OMIM:617237
HP:0010987	Abnormal cellular immune system morphology	200942	KLHDC8B	OMIM:236000
HP:0010987	Abnormal cellular immune system morphology	6445	SGCG	ORPHA:353
HP:0010987	Abnormal cellular immune system morphology	219285	SAMD9L	ORPHA:2585
HP:0010987	Abnormal cellular immune system morphology	23495	TNFRSF13B	OMIM:609529
HP:0010987	Abnormal cellular immune system morphology	1493	CTLA4	ORPHA:3162
HP:0010987	Abnormal cellular immune system morphology	1493	CTLA4	ORPHA:2584
HP:0010987	Abnormal cellular immune system morphology	940	CD28	ORPHA:3162
HP:0010987	Abnormal cellular immune system morphology	940	CD28	ORPHA:2584
HP:0010987	Abnormal cellular immune system morphology	7133	TNFRSF1B	ORPHA:3162
HP:0010987	Abnormal cellular immune system morphology	7133	TNFRSF1B	ORPHA:2584
HP:0010987	Abnormal cellular immune system morphology	23765	IL17RA	OMIM:613953
HP:0010987	Abnormal cellular immune system morphology	4791	NFKB2	ORPHA:293978
HP:0010987	Abnormal cellular immune system morphology	6023	RMRP	ORPHA:39041
HP:0010987	Abnormal cellular immune system morphology	55636	CHD7	ORPHA:39041
HP:0010987	Abnormal cellular immune system morphology	3981	LIG4	ORPHA:39041
HP:0010987	Abnormal cellular immune system morphology	5896	RAG1	ORPHA:39041
HP:0010987	Abnormal cellular immune system morphology	5897	RAG2	ORPHA:39041
HP:0010987	Abnormal cellular immune system morphology	64421	DCLRE1C	ORPHA:39041
HP:0010987	Abnormal cellular immune system morphology	100	ADA	ORPHA:39041
HP:0010987	Abnormal cellular immune system morphology	3575	IL7R	ORPHA:39041
HP:0010987	Abnormal cellular immune system morphology	3561	IL2RG	ORPHA:39041
HP:0010987	Abnormal cellular immune system morphology	7066	THPO	ORPHA:71493
HP:0010987	Abnormal cellular immune system morphology	26511	CHIC2	OMIM:601626
HP:0010987	Abnormal cellular immune system morphology	4026	LPP	OMIM:601626
HP:0010987	Abnormal cellular immune system morphology	8021	NUP214	OMIM:601626
HP:0010987	Abnormal cellular immune system morphology	8301	PICALM	OMIM:601626
HP:0010987	Abnormal cellular immune system morphology	8028	MLLT10	OMIM:601626
HP:0010987	Abnormal cellular immune system morphology	2322	FLT3	OMIM:601626
HP:0010987	Abnormal cellular immune system morphology	1050	CEBPA	OMIM:601626
HP:0010987	Abnormal cellular immune system morphology	2120	ETV6	OMIM:601626
HP:0010987	Abnormal cellular immune system morphology	6455	SH3GL1	OMIM:601626
HP:0010987	Abnormal cellular immune system morphology	8930	MBD4	OMIM:619975
HP:0010987	Abnormal cellular immune system morphology	6729	SRP54	OMIM:260400
HP:0010987	Abnormal cellular immune system morphology	6929	TCF3	OMIM:619824
HP:0010987	Abnormal cellular immune system morphology	3417	IDH1	ORPHA:99646
HP:0010987	Abnormal cellular immune system morphology	10841	FTCD	OMIM:229100
HP:0010987	Abnormal cellular immune system morphology	119559	SFXN4	OMIM:615578
HP:0010987	Abnormal cellular immune system morphology	6609	SMPD1	ORPHA:77293
HP:0010987	Abnormal cellular immune system morphology	161742	SPRED1	ORPHA:137605
HP:0010987	Abnormal cellular immune system morphology	8456	FOXN1	OMIM:601705
HP:0010987	Abnormal cellular immune system morphology	8456	FOXN1	ORPHA:83471
HP:0010987	Abnormal cellular immune system morphology	8456	FOXN1	OMIM:618806
HP:0010987	Abnormal cellular immune system morphology	8456	FOXN1	ORPHA:169095
HP:0010987	Abnormal cellular immune system morphology	5993	RFX5	OMIM:620816
HP:0010987	Abnormal cellular immune system morphology	5993	RFX5	ORPHA:572
HP:0010987	Abnormal cellular immune system morphology	8737	RIPK1	OMIM:618108
HP:0010987	Abnormal cellular immune system morphology	55072	RNF31	OMIM:620632
HP:0010987	Abnormal cellular immune system morphology	4261	CIITA	ORPHA:572
HP:0010987	Abnormal cellular immune system morphology	8625	RFXANK	ORPHA:572
HP:0010987	Abnormal cellular immune system morphology	9020	MAP3K14	OMIM:620449
HP:0010987	Abnormal cellular immune system morphology	6850	SYK	OMIM:619381
HP:0010987	Abnormal cellular immune system morphology	1794	DOCK2	OMIM:616433
HP:0010987	Abnormal cellular immune system morphology	3559	IL2RA	OMIM:606367
HP:0010987	Abnormal cellular immune system morphology	5580	PRKCD	OMIM:615559
HP:0010987	Abnormal cellular immune system morphology	3071	NCKAP1L	OMIM:618982
HP:0010987	Abnormal cellular immune system morphology	84061	MAGT1	OMIM:300853
HP:0010987	Abnormal cellular immune system morphology	3932	LCK	OMIM:615758
HP:0010987	Abnormal cellular immune system morphology	4609	MYC	ORPHA:543
HP:0010987	Abnormal cellular immune system morphology	56160	NSMCE3	OMIM:617241
HP:0010987	Abnormal cellular immune system morphology	3953	LEPR	ORPHA:179494
HP:0010987	Abnormal cellular immune system morphology	3952	LEP	ORPHA:66628
HP:0010987	Abnormal cellular immune system morphology	925	CD8A	OMIM:608957
HP:0010987	Abnormal cellular immune system morphology	613	BCR	ORPHA:521
HP:0010987	Abnormal cellular immune system morphology	25	ABL1	ORPHA:521
HP:0010987	Abnormal cellular immune system morphology	210	ALAD	ORPHA:100924
HP:0010987	Abnormal cellular immune system morphology	5159	PDGFRB	OMIM:131440
HP:0010987	Abnormal cellular immune system morphology	3815	KIT	ORPHA:98849
HP:0010987	Abnormal cellular immune system morphology	5156	PDGFRA	OMIM:607685
HP:0010987	Abnormal cellular immune system morphology	10535	RNASEH2A	ORPHA:51
HP:0010987	Abnormal cellular immune system morphology	84153	RNASEH2C	ORPHA:51
HP:0010987	Abnormal cellular immune system morphology	25939	SAMHD1	ORPHA:51
HP:0010987	Abnormal cellular immune system morphology	79621	RNASEH2B	ORPHA:51
HP:0010987	Abnormal cellular immune system morphology	103	ADAR	ORPHA:51
HP:0010987	Abnormal cellular immune system morphology	100147744	RNU7-1	ORPHA:51
HP:0010987	Abnormal cellular immune system morphology	134353	LSM11	ORPHA:51
HP:0010987	Abnormal cellular immune system morphology	64135	IFIH1	ORPHA:51
HP:0010987	Abnormal cellular immune system morphology	54888	NSUN2	ORPHA:235
HP:0010987	Abnormal cellular immune system morphology	9184	BUB3	ORPHA:1052
HP:0010987	Abnormal cellular immune system morphology	699	BUB1	ORPHA:1052
HP:0010987	Abnormal cellular immune system morphology	9702	CEP57	ORPHA:1052
HP:0010987	Abnormal cellular immune system morphology	9319	TRIP13	ORPHA:1052
HP:0010987	Abnormal cellular immune system morphology	2782	GNB1	OMIM:613065
HP:0010987	Abnormal cellular immune system morphology	6886	TAL1	OMIM:613065
HP:0010987	Abnormal cellular immune system morphology	6887	TAL2	OMIM:613065
HP:0010987	Abnormal cellular immune system morphology	581	BAX	OMIM:613065
HP:0010987	Abnormal cellular immune system morphology	10320	IKZF1	OMIM:616873
HP:0010987	Abnormal cellular immune system morphology	10456	HAX1	OMIM:610738
HP:0010987	Abnormal cellular immune system morphology	64324	NSD1	ORPHA:821
HP:0010987	Abnormal cellular immune system morphology	10297	APC2	ORPHA:821
HP:0010987	Abnormal cellular immune system morphology	4436	MSH2	OMIM:619096
HP:0010987	Abnormal cellular immune system morphology	1854	DUT	OMIM:620044
HP:0010987	Abnormal cellular immune system morphology	4627	MYH9	OMIM:155100
HP:0010987	Abnormal cellular immune system morphology	4627	MYH9	ORPHA:182050
HP:0010987	Abnormal cellular immune system morphology	2542	SLC37A4	ORPHA:79259
HP:0010987	Abnormal cellular immune system morphology	64170	CARD9	OMIM:212050
HP:0010987	Abnormal cellular immune system morphology	27040	LAT	OMIM:617514
HP:0010987	Abnormal cellular immune system morphology	22806	IKZF3	OMIM:619437
HP:0010987	Abnormal cellular immune system morphology	987	LRBA	OMIM:614700
HP:0010987	Abnormal cellular immune system morphology	3507	IGHM	OMIM:601495
HP:0010987	Abnormal cellular immune system morphology	9948	WDR1	OMIM:150550
HP:0010987	Abnormal cellular immune system morphology	5424	POLD1	OMIM:620836
HP:0010987	Abnormal cellular immune system morphology	23250	ATP11A	OMIM:619851
HP:0010987	Abnormal cellular immune system morphology	51371	POMP	OMIM:618048
HP:0010987	Abnormal cellular immune system morphology	10625	IVNS1ABP	OMIM:618969
HP:0010987	Abnormal cellular immune system morphology	79087	ALG12	ORPHA:79324
HP:0010987	Abnormal cellular immune system morphology	567	B2M	OMIM:241600
HP:0010987	Abnormal cellular immune system morphology	96459	FNIP1	OMIM:619705
HP:0010987	Abnormal cellular immune system morphology	9138	ARHGEF1	OMIM:618459
HP:0010987	Abnormal cellular immune system morphology	64858	DCLRE1B	OMIM:620133
HP:0010987	Abnormal cellular immune system morphology	51594	NBAS	OMIM:614800
HP:0010987	Abnormal cellular immune system morphology	10430	TMEM147	OMIM:620075
HP:0010987	Abnormal cellular immune system morphology	115650	TNFRSF13C	OMIM:240500
HP:0010987	Abnormal cellular immune system morphology	115650	TNFRSF13C	OMIM:613494
HP:0010987	Abnormal cellular immune system morphology	29851	ICOS	OMIM:240500
HP:0010987	Abnormal cellular immune system morphology	29851	ICOS	OMIM:607594
HP:0010987	Abnormal cellular immune system morphology	930	CD19	OMIM:240500
HP:0010987	Abnormal cellular immune system morphology	930	CD19	OMIM:613493
HP:0010987	Abnormal cellular immune system morphology	931	MS4A1	OMIM:613495
HP:0010987	Abnormal cellular immune system morphology	975	CD81	OMIM:613496
HP:0010987	Abnormal cellular immune system morphology	59067	IL21	OMIM:615767
HP:0010987	Abnormal cellular immune system morphology	695	BTK	OMIM:307200
HP:0010987	Abnormal cellular immune system morphology	51135	IRAK4	OMIM:607676
HP:0010987	Abnormal cellular immune system morphology	868	CBLB	OMIM:620430
HP:0010987	Abnormal cellular immune system morphology	4068	SH2D1A	OMIM:308240
HP:0010987	Abnormal cellular immune system morphology	331	XIAP	OMIM:308240
HP:0010987	Abnormal cellular immune system morphology	2038	EPB42	OMIM:612690
HP:0010987	Abnormal cellular immune system morphology	3557	IL1RN	OMIM:612852
HP:0010987	Abnormal cellular immune system morphology	1053	CEBPE	OMIM:245480
HP:0010987	Abnormal cellular immune system morphology	2821	GPI	OMIM:613470
HP:0010987	Abnormal cellular immune system morphology	201294	UNC13D	OMIM:608898
HP:0010987	Abnormal cellular immune system morphology	201294	UNC13D	ORPHA:540
HP:0010987	Abnormal cellular immune system morphology	5873	RAB27A	OMIM:607624
HP:0010987	Abnormal cellular immune system morphology	5873	RAB27A	ORPHA:79477
HP:0010987	Abnormal cellular immune system morphology	84868	HAVCR2	ORPHA:86884
HP:0010987	Abnormal cellular immune system morphology	84868	HAVCR2	OMIM:618398
HP:0010987	Abnormal cellular immune system morphology	1777	DNASE2	OMIM:619858
HP:0010987	Abnormal cellular immune system morphology	51311	TLR8	OMIM:301078
HP:0010987	Abnormal cellular immune system morphology	8676	STX11	ORPHA:540
HP:0010987	Abnormal cellular immune system morphology	8676	STX11	OMIM:603552
HP:0010987	Abnormal cellular immune system morphology	6813	STXBP2	ORPHA:540
HP:0010987	Abnormal cellular immune system morphology	6813	STXBP2	OMIM:613101
HP:0010987	Abnormal cellular immune system morphology	57169	ZNFX1	OMIM:619644
HP:0010987	Abnormal cellular immune system morphology	939	CD27	OMIM:615122
HP:0010987	Abnormal cellular immune system morphology	5591	PRKDC	OMIM:615966
HP:0010987	Abnormal cellular immune system morphology	22800	RRAS2	ORPHA:648
HP:0010987	Abnormal cellular immune system morphology	6016	RIT1	ORPHA:648
HP:0010987	Abnormal cellular immune system morphology	6237	RRAS	ORPHA:648
HP:0010987	Abnormal cellular immune system morphology	5894	RAF1	ORPHA:648
HP:0010987	Abnormal cellular immune system morphology	22808	MRAS	ORPHA:648
HP:0010987	Abnormal cellular immune system morphology	200734	SPRED2	ORPHA:648
HP:0010987	Abnormal cellular immune system morphology	6654	SOS1	ORPHA:648
HP:0010987	Abnormal cellular immune system morphology	6655	SOS2	ORPHA:648
HP:0010987	Abnormal cellular immune system morphology	5781	PTPN11	ORPHA:648
HP:0010987	Abnormal cellular immune system morphology	5781	PTPN11	OMIM:607785
HP:0010987	Abnormal cellular immune system morphology	5781	PTPN11	OMIM:163950
HP:0010987	Abnormal cellular immune system morphology	5922	RASA2	ORPHA:648
HP:0010987	Abnormal cellular immune system morphology	23092	ARHGAP26	OMIM:607785
HP:0010987	Abnormal cellular immune system morphology	3551	IKBKB	OMIM:615592
HP:0010987	Abnormal cellular immune system morphology	6730	SRP68	OMIM:620534
HP:0010987	Abnormal cellular immune system morphology	2165	F13B	ORPHA:331
HP:0010987	Abnormal cellular immune system morphology	2162	F13A1	ORPHA:331
HP:0010987	Abnormal cellular immune system morphology	1788	DNMT3A	ORPHA:404443
HP:0010987	Abnormal cellular immune system morphology	26040	SETBP1	ORPHA:798
HP:0010987	Abnormal cellular immune system morphology	90417	KNSTRN	ORPHA:221139
HP:0010987	Abnormal cellular immune system morphology	3604	TNFRSF9	OMIM:620282
HP:0010987	Abnormal cellular immune system morphology	8085	KMT2D	OMIM:147920
HP:0010987	Abnormal cellular immune system morphology	7403	KDM6A	OMIM:147920
HP:0010987	Abnormal cellular immune system morphology	8651	SOCS1	OMIM:619375
HP:0010987	Abnormal cellular immune system morphology	10525	HYOU1	OMIM:233600
HP:0010987	Abnormal cellular immune system morphology	5336	PLCG2	OMIM:614878
HP:0010987	Abnormal cellular immune system morphology	3570	IL6R	OMIM:618944
HP:0010987	Abnormal cellular immune system morphology	10125	RASGRP1	OMIM:618534
HP:0010987	Abnormal cellular immune system morphology	399	RHOH	OMIM:618307
HP:0010987	Abnormal cellular immune system morphology	79991	STN1	OMIM:617341
HP:0010987	Abnormal cellular immune system morphology	3937	LCP2	OMIM:619374
HP:0010987	Abnormal cellular immune system morphology	60468	BACH2	OMIM:618394
HP:0010987	Abnormal cellular immune system morphology	29775	CARD10	OMIM:619632
HP:0010987	Abnormal cellular immune system morphology	11005	SPINK5	OMIM:256500
HP:0010987	Abnormal cellular immune system morphology	10526	IPO8	OMIM:619472
HP:0010987	Abnormal cellular immune system morphology	28755	TRAC	OMIM:615387
HP:0010987	Abnormal cellular immune system morphology	22861	NLRP1	OMIM:617388
HP:0010987	Abnormal cellular immune system morphology	10159	ATP6AP2	OMIM:301045
HP:0010987	Abnormal cellular immune system morphology	841	CASP8	OMIM:607271
HP:0010987	Abnormal cellular immune system morphology	3560	IL2RB	OMIM:618495
HP:0010987	Abnormal cellular immune system morphology	8288	EPX	OMIM:261500
HP:0010987	Abnormal cellular immune system morphology	10892	MALT1	OMIM:615468
HP:0010987	Abnormal cellular immune system morphology	6786	STIM1	OMIM:612783
HP:0010987	Abnormal cellular immune system morphology	916	CD3E	OMIM:615615
HP:0010987	Abnormal cellular immune system morphology	3431	SP110	ORPHA:79124
HP:0010987	Abnormal cellular immune system morphology	84876	ORAI1	OMIM:612782
HP:0010987	Abnormal cellular immune system morphology	427	ASAH1	OMIM:228000
HP:0010987	Abnormal cellular immune system morphology	970	CD70	OMIM:618261
HP:0010987	Abnormal cellular immune system morphology	4173	MCM4	OMIM:609981
HP:0010987	Abnormal cellular immune system morphology	8546	AP3B1	OMIM:608233
HP:0010987	Abnormal cellular immune system morphology	58484	NLRC4	OMIM:616050
HP:0010987	Abnormal cellular immune system morphology	2214	FCGR3A	OMIM:615707
HP:0010987	Abnormal cellular immune system morphology	5373	PMM2	ORPHA:79318
HP:0010987	Abnormal cellular immune system morphology	340665	CYP26C1	ORPHA:398189
HP:0010987	Abnormal cellular immune system morphology	55315	SLC29A3	OMIM:602782
HP:0010987	Abnormal cellular immune system morphology	55315	SLC29A3	ORPHA:168569
HP:0010987	Abnormal cellular immune system morphology	2000	ELF4	OMIM:301074
HP:0010987	Abnormal cellular immune system morphology	84823	LMNB2	ORPHA:79087
HP:0010987	Abnormal cellular immune system morphology	10095	ARPC1B	OMIM:617718
HP:0010987	Abnormal cellular immune system morphology	9451	EIF2AK3	ORPHA:1667
HP:0010987	Abnormal cellular immune system morphology	4792	NFKBIA	ORPHA:98813
HP:0010987	Abnormal cellular immune system morphology	3579	CXCR2	OMIM:619407
HP:0010987	Abnormal cellular immune system morphology	51645	PPIL1	OMIM:619301
HP:0010987	Abnormal cellular immune system morphology	51362	CDC40	OMIM:619302
HP:0010987	Abnormal cellular immune system morphology	9158	FIBP	ORPHA:500095
HP:0010987	Abnormal cellular immune system morphology	8915	BCL10	OMIM:616098
HP:0010987	Abnormal cellular immune system morphology	3978	LIG1	OMIM:619774
HP:0010987	Abnormal cellular immune system morphology	50943	FOXP3	OMIM:304790
HP:0010987	Abnormal cellular immune system morphology	4353	MPO	OMIM:254600
HP:0010988	Abnormality of the extrinsic pathway	29929	ALG6	OMIM:603147
HP:0010988	Abnormality of the extrinsic pathway	79644	SRD5A3	ORPHA:324737
HP:0010988	Abnormality of the extrinsic pathway	79644	SRD5A3	OMIM:612379
HP:0010988	Abnormality of the extrinsic pathway	5373	PMM2	ORPHA:79318
HP:0010988	Abnormality of the extrinsic pathway	5373	PMM2	OMIM:212065
HP:0010988	Abnormality of the extrinsic pathway	1798	DPAGT1	ORPHA:86309
HP:0010988	Abnormality of the extrinsic pathway	1798	DPAGT1	OMIM:608093
HP:0010988	Abnormality of the extrinsic pathway	4351	MPI	OMIM:602579
HP:0010988	Abnormality of the extrinsic pathway	191	AHCY	ORPHA:88618
HP:0010988	Abnormality of the extrinsic pathway	8813	DPM1	OMIM:608799
HP:0010988	Abnormality of the extrinsic pathway	8813	DPM1	ORPHA:79322
HP:0010988	Abnormality of the extrinsic pathway	5236	PGM1	OMIM:614921
HP:0010988	Abnormality of the extrinsic pathway	8818	DPM2	ORPHA:329178
HP:0010988	Abnormality of the extrinsic pathway	2542	SLC37A4	OMIM:619525
HP:0010988	Abnormality of the extrinsic pathway	462	SERPINC1	OMIM:613118
HP:0010988	Abnormality of the extrinsic pathway	462	SERPINC1	ORPHA:82
HP:0010988	Abnormality of the extrinsic pathway	79053	ALG8	OMIM:608104
HP:0010988	Abnormality of the extrinsic pathway	79053	ALG8	ORPHA:79325
HP:0010988	Abnormality of the extrinsic pathway	6811	STX5	OMIM:620454
HP:0010988	Abnormality of the extrinsic pathway	79796	ALG9	OMIM:608776
HP:0010988	Abnormality of the extrinsic pathway	4247	MGAT2	OMIM:212066
HP:0010988	Abnormality of the extrinsic pathway	2683	B4GALT1	ORPHA:79332
HP:0010988	Abnormality of the extrinsic pathway	79087	ALG12	OMIM:607143
HP:0010988	Abnormality of the extrinsic pathway	2677	GGCX	OMIM:277450
HP:0010988	Abnormality of the extrinsic pathway	2677	GGCX	OMIM:610842
HP:0010988	Abnormality of the extrinsic pathway	2155	F7	OMIM:227500
HP:0010988	Abnormality of the extrinsic pathway	79001	VKORC1	OMIM:607473
HP:0001263	Global developmental delay	1718	DHCR24	OMIM:602398
HP:0001263	Global developmental delay	4524	MTHFR	ORPHA:395
HP:0001263	Global developmental delay	4524	MTHFR	OMIM:236250
HP:0001263	Global developmental delay	23394	ADNP	ORPHA:404448
HP:0001263	Global developmental delay	23394	ADNP	OMIM:615873
HP:0001263	Global developmental delay	55703	POLR3B	OMIM:614381
HP:0001263	Global developmental delay	55703	POLR3B	OMIM:607694
HP:0001263	Global developmental delay	55703	POLR3B	OMIM:619742
HP:0001263	Global developmental delay	51256	TBC1D7	OMIM:248000
HP:0001263	Global developmental delay	51399	TRAPPC4	OMIM:618741
HP:0001263	Global developmental delay	1139	CHRNA7	ORPHA:199318
HP:0001263	Global developmental delay	8216	LZTR1	OMIM:616564
HP:0001263	Global developmental delay	8216	LZTR1	OMIM:605275
HP:0001263	Global developmental delay	2304	FOXE1	OMIM:241850
HP:0001263	Global developmental delay	2304	FOXE1	ORPHA:95713
HP:0001263	Global developmental delay	10059	DNM1L	OMIM:614388
HP:0001263	Global developmental delay	10059	DNM1L	ORPHA:330050
HP:0001263	Global developmental delay	10059	DNM1L	ORPHA:98673
HP:0001263	Global developmental delay	7021	TFAP2B	OMIM:169100
HP:0001263	Global developmental delay	7021	TFAP2B	ORPHA:46627
HP:0001263	Global developmental delay	2261	FGFR3	ORPHA:53271
HP:0001263	Global developmental delay	2261	FGFR3	ORPHA:2363
HP:0001263	Global developmental delay	2261	FGFR3	OMIM:616482
HP:0001263	Global developmental delay	2261	FGFR3	OMIM:187600
HP:0001263	Global developmental delay	2261	FGFR3	OMIM:602849
HP:0001263	Global developmental delay	2261	FGFR3	OMIM:610474
HP:0001263	Global developmental delay	2317	FLNB	ORPHA:56305
HP:0001263	Global developmental delay	1729	DIAPH1	ORPHA:477814
HP:0001263	Global developmental delay	1729	DIAPH1	OMIM:616632
HP:0001263	Global developmental delay	10743	RAI1	ORPHA:477817
HP:0001263	Global developmental delay	10743	RAI1	ORPHA:819
HP:0001263	Global developmental delay	10743	RAI1	ORPHA:1713
HP:0001263	Global developmental delay	10743	RAI1	OMIM:182290
HP:0001263	Global developmental delay	2073	ERCC5	OMIM:616570
HP:0001263	Global developmental delay	2073	ERCC5	ORPHA:220295
HP:0001263	Global developmental delay	2073	ERCC5	OMIM:278780
HP:0001263	Global developmental delay	6729	SRP54	OMIM:618752
HP:0001263	Global developmental delay	6729	SRP54	OMIM:260400
HP:0001263	Global developmental delay	283489	CHAMP1	OMIM:616579
HP:0001263	Global developmental delay	23322	RPGRIP1L	ORPHA:220497
HP:0001263	Global developmental delay	23322	RPGRIP1L	OMIM:619113
HP:0001263	Global developmental delay	23322	RPGRIP1L	OMIM:611560
HP:0001263	Global developmental delay	4867	NPHP1	ORPHA:220497
HP:0001263	Global developmental delay	4867	NPHP1	ORPHA:3156
HP:0001263	Global developmental delay	4867	NPHP1	OMIM:609583
HP:0001263	Global developmental delay	65062	TMEM237	ORPHA:220497
HP:0001263	Global developmental delay	65062	TMEM237	ORPHA:2318
HP:0001263	Global developmental delay	65062	TMEM237	ORPHA:475
HP:0001263	Global developmental delay	65062	TMEM237	OMIM:614424
HP:0001263	Global developmental delay	477	ATP1A2	OMIM:619605
HP:0001263	Global developmental delay	477	ATP1A2	ORPHA:442835
HP:0001263	Global developmental delay	27245	AHDC1	ORPHA:412069
HP:0001263	Global developmental delay	27245	AHDC1	OMIM:615829
HP:0001263	Global developmental delay	478	ATP1A3	OMIM:619606
HP:0001263	Global developmental delay	478	ATP1A3	ORPHA:442835
HP:0001263	Global developmental delay	478	ATP1A3	OMIM:614820
HP:0001263	Global developmental delay	2137	EXTL3	OMIM:617425
HP:0001263	Global developmental delay	2137	EXTL3	ORPHA:508533
HP:0001263	Global developmental delay	166378	AFG2A	OMIM:616577
HP:0001263	Global developmental delay	166378	AFG2A	ORPHA:457351
HP:0001263	Global developmental delay	5184	PEPD	OMIM:170100
HP:0001263	Global developmental delay	54806	AHI1	ORPHA:220493
HP:0001263	Global developmental delay	54806	AHI1	ORPHA:475
HP:0001263	Global developmental delay	56623	INPP5E	ORPHA:220493
HP:0001263	Global developmental delay	56623	INPP5E	OMIM:213300
HP:0001263	Global developmental delay	56623	INPP5E	ORPHA:475
HP:0001263	Global developmental delay	153241	CEP120	ORPHA:220493
HP:0001263	Global developmental delay	153241	CEP120	OMIM:617761
HP:0001263	Global developmental delay	153241	CEP120	ORPHA:475
HP:0001263	Global developmental delay	54903	MKS1	ORPHA:220493
HP:0001263	Global developmental delay	54903	MKS1	OMIM:615990
HP:0001263	Global developmental delay	54903	MKS1	ORPHA:475
HP:0001263	Global developmental delay	54903	MKS1	OMIM:617121
HP:0001263	Global developmental delay	54903	MKS1	OMIM:249000
HP:0001263	Global developmental delay	95681	CEP41	ORPHA:220493
HP:0001263	Global developmental delay	95681	CEP41	ORPHA:475
HP:0001263	Global developmental delay	95681	CEP41	OMIM:614464
HP:0001263	Global developmental delay	84197	POMK	OMIM:615249
HP:0001263	Global developmental delay	84197	POMK	ORPHA:370959
HP:0001263	Global developmental delay	84197	POMK	ORPHA:899
HP:0001263	Global developmental delay	84520	GON7	OMIM:619603
HP:0001263	Global developmental delay	84520	GON7	ORPHA:2065
HP:0001263	Global developmental delay	55768	NGLY1	ORPHA:404454
HP:0001263	Global developmental delay	55768	NGLY1	OMIM:615273
HP:0001263	Global developmental delay	1161	ERCC8	OMIM:216400
HP:0001263	Global developmental delay	79158	GNPTAB	OMIM:252500
HP:0001263	Global developmental delay	79158	GNPTAB	OMIM:252600
HP:0001263	Global developmental delay	57589	RIC1	OMIM:618761
HP:0001263	Global developmental delay	3190	HNRNPK	OMIM:616580
HP:0001263	Global developmental delay	317662	FAM149B1	OMIM:618763
HP:0001263	Global developmental delay	317662	FAM149B1	ORPHA:2754
HP:0001263	Global developmental delay	5832	ALDH18A1	OMIM:616586
HP:0001263	Global developmental delay	5832	ALDH18A1	ORPHA:90348
HP:0001263	Global developmental delay	5832	ALDH18A1	ORPHA:35664
HP:0001263	Global developmental delay	5832	ALDH18A1	ORPHA:447760
HP:0001263	Global developmental delay	5832	ALDH18A1	OMIM:219150
HP:0001263	Global developmental delay	5832	ALDH18A1	OMIM:616603
HP:0001263	Global developmental delay	6884	TAF13	OMIM:617432
HP:0001263	Global developmental delay	6884	TAF13	ORPHA:2512
HP:0001263	Global developmental delay	2671	GFER	OMIM:613076
HP:0001263	Global developmental delay	2671	GFER	ORPHA:330054
HP:0001263	Global developmental delay	6844	VAMP2	OMIM:618760
HP:0001263	Global developmental delay	79029	AFG2B	OMIM:619616
HP:0001263	Global developmental delay	79029	AFG2B	OMIM:619615
HP:0001263	Global developmental delay	54880	BCOR	ORPHA:2712
HP:0001263	Global developmental delay	6573	SLC19A1	OMIM:620603
HP:0001263	Global developmental delay	3064	HTT	OMIM:617435
HP:0001263	Global developmental delay	7436	VLDLR	OMIM:224050
HP:0001263	Global developmental delay	55681	SCYL2	OMIM:618766
HP:0001263	Global developmental delay	51109	RDH11	OMIM:616108
HP:0001263	Global developmental delay	51109	RDH11	ORPHA:436245
HP:0001263	Global developmental delay	4508	MT-ATP6	OMIM:551500
HP:0001263	Global developmental delay	4508	MT-ATP6	ORPHA:644
HP:0001263	Global developmental delay	790955	UQCC3	OMIM:616111
HP:0001263	Global developmental delay	5813	PURA	ORPHA:438216
HP:0001263	Global developmental delay	5813	PURA	OMIM:616158
HP:0001263	Global developmental delay	3340	NDST1	OMIM:616116
HP:0001263	Global developmental delay	5376	PMP22	ORPHA:90658
HP:0001263	Global developmental delay	89910	UBE3B	ORPHA:2707
HP:0001263	Global developmental delay	6602	SMARCD1	OMIM:618779
HP:0001263	Global developmental delay	54	ACP5	ORPHA:1855
HP:0001263	Global developmental delay	54	ACP5	OMIM:607944
HP:0001263	Global developmental delay	5373	PMM2	OMIM:212065
HP:0001263	Global developmental delay	5373	PMM2	ORPHA:79318
HP:0001263	Global developmental delay	63901	FAM111A	OMIM:602361
HP:0001263	Global developmental delay	2316	FLNA	ORPHA:90652
HP:0001263	Global developmental delay	1499	CTNNB1	ORPHA:54595
HP:0001263	Global developmental delay	1499	CTNNB1	OMIM:615075
HP:0001263	Global developmental delay	673	BRAF	ORPHA:54595
HP:0001263	Global developmental delay	673	BRAF	ORPHA:500
HP:0001263	Global developmental delay	673	BRAF	ORPHA:1340
HP:0001263	Global developmental delay	54345	SOX18	OMIM:137940
HP:0001263	Global developmental delay	2746	GLUD1	ORPHA:35878
HP:0001263	Global developmental delay	8398	PLA2G6	ORPHA:199351
HP:0001263	Global developmental delay	8398	PLA2G6	OMIM:256600
HP:0001263	Global developmental delay	8493	PPM1D	OMIM:617450
HP:0001263	Global developmental delay	5034	P4HB	OMIM:112240
HP:0001263	Global developmental delay	5034	P4HB	ORPHA:2050
HP:0001263	Global developmental delay	55621	TRMT1	OMIM:618302
HP:0001263	Global developmental delay	23512	SUZ12	OMIM:618786
HP:0001263	Global developmental delay	23512	SUZ12	ORPHA:3447
HP:0001263	Global developmental delay	51633	OTUD6B	OMIM:617452
HP:0001263	Global developmental delay	51633	OTUD6B	ORPHA:505237
HP:0001263	Global developmental delay	55280	CWF19L1	OMIM:616127
HP:0001263	Global developmental delay	55280	CWF19L1	ORPHA:453521
HP:0001263	Global developmental delay	3845	KRAS	OMIM:615278
HP:0001263	Global developmental delay	3845	KRAS	ORPHA:2396
HP:0001263	Global developmental delay	3845	KRAS	OMIM:600268
HP:0001263	Global developmental delay	3845	KRAS	ORPHA:1340
HP:0001263	Global developmental delay	3845	KRAS	OMIM:609942
HP:0001263	Global developmental delay	5604	MAP2K1	OMIM:615279
HP:0001263	Global developmental delay	5604	MAP2K1	ORPHA:1340
HP:0001263	Global developmental delay	2517	FUCA1	ORPHA:349
HP:0001263	Global developmental delay	2517	FUCA1	OMIM:230000
HP:0001263	Global developmental delay	9289	ADGRG1	ORPHA:101070
HP:0001263	Global developmental delay	9289	ADGRG1	OMIM:606854
HP:0001263	Global developmental delay	9289	ADGRG1	ORPHA:98889
HP:0001263	Global developmental delay	5728	PTEN	ORPHA:101070
HP:0001263	Global developmental delay	5728	PTEN	OMIM:605309
HP:0001263	Global developmental delay	5728	PTEN	ORPHA:201
HP:0001263	Global developmental delay	5728	PTEN	OMIM:158350
HP:0001263	Global developmental delay	4598	MVK	ORPHA:343
HP:0001263	Global developmental delay	4598	MVK	ORPHA:29
HP:0001263	Global developmental delay	4598	MVK	OMIM:610377
HP:0001263	Global developmental delay	5727	PTCH1	OMIM:610828
HP:0001263	Global developmental delay	5727	PTCH1	ORPHA:77301
HP:0001263	Global developmental delay	2736	GLI2	OMIM:610829
HP:0001263	Global developmental delay	2736	GLI2	OMIM:615849
HP:0001263	Global developmental delay	79718	TBL1XR1	OMIM:602342
HP:0001263	Global developmental delay	79718	TBL1XR1	OMIM:616944
HP:0001263	Global developmental delay	3766	KCNJ10	ORPHA:199343
HP:0001263	Global developmental delay	3766	KCNJ10	OMIM:612780
HP:0001263	Global developmental delay	5605	MAP2K2	OMIM:615280
HP:0001263	Global developmental delay	5605	MAP2K2	ORPHA:1340
HP:0001263	Global developmental delay	54828	BCAS3	OMIM:619641
HP:0001263	Global developmental delay	3800	KIF5C	OMIM:615282
HP:0001263	Global developmental delay	57169	ZNFX1	OMIM:619644
HP:0001263	Global developmental delay	11041	B4GAT1	OMIM:615287
HP:0001263	Global developmental delay	11041	B4GAT1	ORPHA:899
HP:0001263	Global developmental delay	2232	FDXR	ORPHA:543470
HP:0001263	Global developmental delay	11311	VPS45	OMIM:615285
HP:0001263	Global developmental delay	50485	SMARCAL1	ORPHA:1830
HP:0001263	Global developmental delay	50485	SMARCAL1	OMIM:242900
HP:0001263	Global developmental delay	2904	GRIN2B	OMIM:616139
HP:0001263	Global developmental delay	2904	GRIN2B	OMIM:613970
HP:0001263	Global developmental delay	2263	FGFR2	OMIM:123790
HP:0001263	Global developmental delay	2263	FGFR2	ORPHA:93259
HP:0001263	Global developmental delay	2263	FGFR2	ORPHA:2363
HP:0001263	Global developmental delay	476	ATP1A1	OMIM:618314
HP:0001263	Global developmental delay	476	ATP1A1	ORPHA:564178
HP:0001263	Global developmental delay	200424	TET3	OMIM:618798
HP:0001263	Global developmental delay	55072	RNF31	OMIM:620632
HP:0001263	Global developmental delay	9772	TMEM94	OMIM:618316
HP:0001263	Global developmental delay	6901	TAFAZZIN	OMIM:302060
HP:0001263	Global developmental delay	10667	FARS2	ORPHA:466722
HP:0001263	Global developmental delay	57688	ZSWIM6	OMIM:603671
HP:0001263	Global developmental delay	57688	ZSWIM6	ORPHA:1827
HP:0001263	Global developmental delay	57688	ZSWIM6	OMIM:617865
HP:0001263	Global developmental delay	57609	DIP2B	OMIM:136630
HP:0001263	Global developmental delay	775	CACNA1C	OMIM:601005
HP:0001263	Global developmental delay	775	CACNA1C	OMIM:620029
HP:0001263	Global developmental delay	2239	GPC4	ORPHA:373
HP:0001263	Global developmental delay	2719	GPC3	ORPHA:373
HP:0001263	Global developmental delay	4000	LMNA	ORPHA:157973
HP:0001263	Global developmental delay	55739	NAXD	OMIM:618321
HP:0001263	Global developmental delay	7143	TNR	OMIM:619653
HP:0001263	Global developmental delay	5917	RARS1	OMIM:616140
HP:0001263	Global developmental delay	5917	RARS1	ORPHA:438114
HP:0001263	Global developmental delay	197258	FCSK	OMIM:618324
HP:0001263	Global developmental delay	23483	TGDS	OMIM:616145
HP:0001263	Global developmental delay	6603	SMARCD2	OMIM:617475
HP:0001263	Global developmental delay	111	ADCY5	OMIM:619651
HP:0001263	Global developmental delay	125988	MICOS13	OMIM:618329
HP:0001263	Global developmental delay	25836	NIPBL	OMIM:122470
HP:0001263	Global developmental delay	23499	MACF1	OMIM:618325
HP:0001263	Global developmental delay	54148	MRPL39	OMIM:620646
HP:0001263	Global developmental delay	4087	SMAD2	OMIM:619657
HP:0001263	Global developmental delay	84100	ARL6	OMIM:600151
HP:0001263	Global developmental delay	84100	ARL6	OMIM:209900
HP:0001263	Global developmental delay	1523	CUX1	OMIM:618330
HP:0001263	Global developmental delay	84188	FAR1	OMIM:616154
HP:0001263	Global developmental delay	84188	FAR1	ORPHA:438178
HP:0001263	Global developmental delay	120	ADD3	OMIM:617008
HP:0001263	Global developmental delay	5908	RAP1B	OMIM:620654
HP:0001263	Global developmental delay	5910	RAP1GDS1	OMIM:620655
HP:0001263	Global developmental delay	2744	GLS	OMIM:618339
HP:0001263	Global developmental delay	2744	GLS	OMIM:618412
HP:0001263	Global developmental delay	835	CASP2	OMIM:620653
HP:0001263	Global developmental delay	7873	MANF	OMIM:620651
HP:0001263	Global developmental delay	58	ACTA1	ORPHA:97240
HP:0001263	Global developmental delay	58	ACTA1	ORPHA:97244
HP:0001263	Global developmental delay	4921	DDR2	OMIM:271665
HP:0001263	Global developmental delay	57526	PCDH19	ORPHA:101039
HP:0001263	Global developmental delay	57526	PCDH19	OMIM:300088
HP:0001263	Global developmental delay	57190	SELENON	ORPHA:97244
HP:0001263	Global developmental delay	7915	ALDH5A1	ORPHA:22
HP:0001263	Global developmental delay	7915	ALDH5A1	OMIM:271980
HP:0001263	Global developmental delay	6448	SGSH	OMIM:252900
HP:0001263	Global developmental delay	8925	HERC1	OMIM:617011
HP:0001263	Global developmental delay	8925	HERC1	ORPHA:457359
HP:0001263	Global developmental delay	2775	GNAO1	OMIM:617493
HP:0001263	Global developmental delay	2775	GNAO1	ORPHA:1934
HP:0001263	Global developmental delay	2775	GNAO1	OMIM:615473
HP:0001263	Global developmental delay	23516	SLC39A14	OMIM:617013
HP:0001263	Global developmental delay	23516	SLC39A14	ORPHA:521406
HP:0001263	Global developmental delay	54517	PUS7	OMIM:618342
HP:0001263	Global developmental delay	10564	ARFGEF2	OMIM:608097
HP:0001263	Global developmental delay	2495	FTH1	OMIM:620669
HP:0001263	Global developmental delay	8573	CASK	OMIM:300749
HP:0001263	Global developmental delay	8573	CASK	ORPHA:1934
HP:0001263	Global developmental delay	8573	CASK	OMIM:300422
HP:0001263	Global developmental delay	10785	WDR4	OMIM:618347
HP:0001263	Global developmental delay	10785	WDR4	ORPHA:2065
HP:0001263	Global developmental delay	1798	DPAGT1	OMIM:608093
HP:0001263	Global developmental delay	57122	NUP107	OMIM:618348
HP:0001263	Global developmental delay	57122	NUP107	ORPHA:2065
HP:0001263	Global developmental delay	57122	NUP107	OMIM:616730
HP:0001263	Global developmental delay	55746	NUP133	OMIM:618349
HP:0001263	Global developmental delay	55746	NUP133	ORPHA:2065
HP:0001263	Global developmental delay	51259	TMEM216	OMIM:608091
HP:0001263	Global developmental delay	51259	TMEM216	ORPHA:2318
HP:0001263	Global developmental delay	51259	TMEM216	ORPHA:2754
HP:0001263	Global developmental delay	90459	ERI1	OMIM:620662
HP:0001263	Global developmental delay	959	CD40LG	OMIM:308230
HP:0001263	Global developmental delay	100033413	SNORD116-1	OMIM:176270
HP:0001263	Global developmental delay	8924	HERC2	OMIM:176270
HP:0001263	Global developmental delay	8924	HERC2	OMIM:615516
HP:0001263	Global developmental delay	23742	NPAP1	OMIM:176270
HP:0001263	Global developmental delay	338433	SNORD115-1	OMIM:176270
HP:0001263	Global developmental delay	54551	MAGEL2	OMIM:176270
HP:0001263	Global developmental delay	54551	MAGEL2	ORPHA:177904
HP:0001263	Global developmental delay	54551	MAGEL2	ORPHA:177901
HP:0001263	Global developmental delay	54551	MAGEL2	ORPHA:177910
HP:0001263	Global developmental delay	54551	MAGEL2	OMIM:615547
HP:0001263	Global developmental delay	54551	MAGEL2	ORPHA:98754
HP:0001263	Global developmental delay	7681	MKRN3	OMIM:176270
HP:0001263	Global developmental delay	145624	PWAR1	OMIM:176270
HP:0001263	Global developmental delay	3653	IPW	OMIM:176270
HP:0001263	Global developmental delay	791114	PWRN1	OMIM:176270
HP:0001263	Global developmental delay	1950	EGF	OMIM:611718
HP:0001263	Global developmental delay	5095	PCCA	ORPHA:35
HP:0001263	Global developmental delay	5095	PCCA	OMIM:606054
HP:0001263	Global developmental delay	5096	PCCB	ORPHA:35
HP:0001263	Global developmental delay	5096	PCCB	OMIM:606054
HP:0001263	Global developmental delay	56945	MRPS22	OMIM:611719
HP:0001263	Global developmental delay	27125	AFF4	ORPHA:444077
HP:0001263	Global developmental delay	27125	AFF4	OMIM:616368
HP:0001263	Global developmental delay	6888	TALDO1	ORPHA:101028
HP:0001263	Global developmental delay	5575	PRKAR1B	OMIM:619680
HP:0001263	Global developmental delay	3028	HSD17B10	ORPHA:391457
HP:0001263	Global developmental delay	3028	HSD17B10	ORPHA:391428
HP:0001263	Global developmental delay	3028	HSD17B10	OMIM:300438
HP:0001263	Global developmental delay	7372	UMPS	ORPHA:30
HP:0001263	Global developmental delay	7372	UMPS	OMIM:258900
HP:0001263	Global developmental delay	10733	PLK4	OMIM:616171
HP:0001263	Global developmental delay	4967	OGDH	ORPHA:31
HP:0001263	Global developmental delay	2972	BRF1	ORPHA:444072
HP:0001263	Global developmental delay	2972	BRF1	OMIM:616202
HP:0001263	Global developmental delay	3712	IVD	ORPHA:33
HP:0001263	Global developmental delay	3712	IVD	OMIM:243500
HP:0001263	Global developmental delay	5515	PPP2CA	OMIM:618354
HP:0001263	Global developmental delay	11277	TREX1	OMIM:225750
HP:0001263	Global developmental delay	11277	TREX1	ORPHA:51
HP:0001263	Global developmental delay	23114	NFASC	OMIM:618356
HP:0001263	Global developmental delay	5610	EIF2AK2	OMIM:619687
HP:0001263	Global developmental delay	6096	RORB	OMIM:618357
HP:0001263	Global developmental delay	112755	STX1B	OMIM:616172
HP:0001263	Global developmental delay	116461	TSEN15	OMIM:617026
HP:0001263	Global developmental delay	55262	TRAPPC14	OMIM:618351
HP:0001263	Global developmental delay	55262	TRAPPC14	ORPHA:2512
HP:0001263	Global developmental delay	6492	SIM1	ORPHA:171829
HP:0001263	Global developmental delay	6492	SIM1	ORPHA:369873
HP:0001263	Global developmental delay	25885	POLR1A	OMIM:620675
HP:0001263	Global developmental delay	25885	POLR1A	OMIM:616462
HP:0001263	Global developmental delay	3767	KCNJ11	ORPHA:99885
HP:0001263	Global developmental delay	3767	KCNJ11	OMIM:618856
HP:0001263	Global developmental delay	6774	STAT3	ORPHA:99885
HP:0001263	Global developmental delay	2645	GCK	ORPHA:99885
HP:0001263	Global developmental delay	3651	PDX1	ORPHA:99885
HP:0001263	Global developmental delay	6833	ABCC8	ORPHA:99885
HP:0001263	Global developmental delay	3630	INS	ORPHA:99885
HP:0001263	Global developmental delay	4204	MECP2	ORPHA:778
HP:0001263	Global developmental delay	4204	MECP2	OMIM:300055
HP:0001263	Global developmental delay	4204	MECP2	ORPHA:1762
HP:0001263	Global developmental delay	4204	MECP2	OMIM:300673
HP:0001263	Global developmental delay	4204	MECP2	OMIM:300260
HP:0001263	Global developmental delay	29925	GMPPB	ORPHA:370968
HP:0001263	Global developmental delay	29925	GMPPB	ORPHA:370959
HP:0001263	Global developmental delay	29925	GMPPB	ORPHA:363623
HP:0001263	Global developmental delay	29925	GMPPB	OMIM:615350
HP:0001263	Global developmental delay	29925	GMPPB	OMIM:615351
HP:0001263	Global developmental delay	79147	FKRP	ORPHA:370968
HP:0001263	Global developmental delay	79147	FKRP	ORPHA:370959
HP:0001263	Global developmental delay	79147	FKRP	OMIM:236670
HP:0001263	Global developmental delay	79147	FKRP	ORPHA:899
HP:0001263	Global developmental delay	29954	POMT2	ORPHA:370968
HP:0001263	Global developmental delay	29954	POMT2	ORPHA:370959
HP:0001263	Global developmental delay	29954	POMT2	ORPHA:206559
HP:0001263	Global developmental delay	29954	POMT2	OMIM:236670
HP:0001263	Global developmental delay	29954	POMT2	ORPHA:899
HP:0001263	Global developmental delay	9215	LARGE1	ORPHA:370968
HP:0001263	Global developmental delay	9215	LARGE1	OMIM:608840
HP:0001263	Global developmental delay	9215	LARGE1	OMIM:236670
HP:0001263	Global developmental delay	9215	LARGE1	ORPHA:899
HP:0001263	Global developmental delay	9215	LARGE1	OMIM:613154
HP:0001263	Global developmental delay	10585	POMT1	ORPHA:370968
HP:0001263	Global developmental delay	10585	POMT1	ORPHA:370959
HP:0001263	Global developmental delay	10585	POMT1	OMIM:236670
HP:0001263	Global developmental delay	10585	POMT1	ORPHA:899
HP:0001263	Global developmental delay	10585	POMT1	OMIM:613155
HP:0001263	Global developmental delay	427	ASAH1	ORPHA:333
HP:0001263	Global developmental delay	79709	COLGALT1	OMIM:618360
HP:0001263	Global developmental delay	16	AARS1	OMIM:619691
HP:0001263	Global developmental delay	16	AARS1	ORPHA:442835
HP:0001263	Global developmental delay	16	AARS1	ORPHA:33364
HP:0001263	Global developmental delay	16	AARS1	OMIM:616339
HP:0001263	Global developmental delay	473	RERE	ORPHA:494344
HP:0001263	Global developmental delay	473	RERE	OMIM:616975
HP:0001263	Global developmental delay	473	RERE	ORPHA:1606
HP:0001263	Global developmental delay	55777	MBD5	OMIM:156200
HP:0001263	Global developmental delay	347733	TUBB2B	ORPHA:467166
HP:0001263	Global developmental delay	347733	TUBB2B	ORPHA:300573
HP:0001263	Global developmental delay	347733	TUBB2B	OMIM:610031
HP:0001263	Global developmental delay	7846	TUBA1A	ORPHA:467166
HP:0001263	Global developmental delay	7846	TUBA1A	OMIM:611603
HP:0001263	Global developmental delay	7846	TUBA1A	ORPHA:171680
HP:0001263	Global developmental delay	10381	TUBB3	ORPHA:467166
HP:0001263	Global developmental delay	10381	TUBB3	OMIM:600638
HP:0001263	Global developmental delay	10381	TUBB3	OMIM:614039
HP:0001263	Global developmental delay	10381	TUBB3	ORPHA:300570
HP:0001263	Global developmental delay	10588	MTHFS	OMIM:618367
HP:0001263	Global developmental delay	51434	ANAPC7	OMIM:619699
HP:0001263	Global developmental delay	4141	MARS1	OMIM:619692
HP:0001263	Global developmental delay	4141	MARS1	ORPHA:401835
HP:0001263	Global developmental delay	4141	MARS1	OMIM:620323
HP:0001263	Global developmental delay	24140	FTSJ1	OMIM:309549
HP:0001263	Global developmental delay	6601	SMARCC2	OMIM:618362
HP:0001263	Global developmental delay	92255	LMBRD2	OMIM:619694
HP:0001263	Global developmental delay	84068	SLC10A7	OMIM:618363
HP:0001263	Global developmental delay	7468	NSD2	OMIM:619695
HP:0001263	Global developmental delay	7468	NSD2	OMIM:194190
HP:0001263	Global developmental delay	7468	NSD2	ORPHA:280
HP:0001263	Global developmental delay	3054	HCFC1	OMIM:309541
HP:0001263	Global developmental delay	201163	FLCN	OMIM:610883
HP:0001263	Global developmental delay	3183	HNRNPC	OMIM:620688
HP:0001263	Global developmental delay	819	CAMLG	OMIM:620201
HP:0001263	Global developmental delay	11145	PLAAT3	OMIM:620683
HP:0001263	Global developmental delay	51608	GET4	OMIM:620200
HP:0001263	Global developmental delay	5805	PTS	ORPHA:13
HP:0001263	Global developmental delay	5805	PTS	OMIM:261640
HP:0001263	Global developmental delay	7703	PCGF2	OMIM:618371
HP:0001263	Global developmental delay	56776	FMN2	OMIM:616193
HP:0001263	Global developmental delay	23111	SPART	ORPHA:101000
HP:0001263	Global developmental delay	23111	SPART	OMIM:275900
HP:0001263	Global developmental delay	51324	SPG21	ORPHA:101001
HP:0001263	Global developmental delay	7086	TKT	OMIM:617044
HP:0001263	Global developmental delay	7086	TKT	ORPHA:488618
HP:0001263	Global developmental delay	63931	MRPS14	OMIM:618378
HP:0001263	Global developmental delay	8802	SUCLG1	ORPHA:17
HP:0001263	Global developmental delay	8802	SUCLG1	OMIM:245400
HP:0001263	Global developmental delay	7174	TPP2	OMIM:619220
HP:0001263	Global developmental delay	4761	NEUROD2	OMIM:618374
HP:0001263	Global developmental delay	4761	NEUROD2	ORPHA:1934
HP:0001263	Global developmental delay	84705	GTPBP3	OMIM:616198
HP:0001263	Global developmental delay	84705	GTPBP3	ORPHA:444013
HP:0001263	Global developmental delay	51729	WBP11	OMIM:619227
HP:0001263	Global developmental delay	6304	SATB1	OMIM:619228
HP:0001263	Global developmental delay	6304	SATB1	OMIM:619229
HP:0001263	Global developmental delay	8883	NAE1	OMIM:620210
HP:0001263	Global developmental delay	55186	SLC25A36	OMIM:620211
HP:0001263	Global developmental delay	4763	NF1	ORPHA:97685
HP:0001263	Global developmental delay	4763	NF1	OMIM:601321
HP:0001263	Global developmental delay	4763	NF1	ORPHA:139474
HP:0001263	Global developmental delay	4763	NF1	ORPHA:363700
HP:0001263	Global developmental delay	11285	B4GALT7	ORPHA:75496
HP:0001263	Global developmental delay	50801	KCNK4	OMIM:618381
HP:0001263	Global developmental delay	83480	PUS3	OMIM:617051
HP:0001263	Global developmental delay	83480	PUS3	ORPHA:488627
HP:0001263	Global developmental delay	65260	COA7	OMIM:618387
HP:0001263	Global developmental delay	54809	SAMD9	OMIM:617053
HP:0001263	Global developmental delay	134218	DNAJC21	OMIM:617052
HP:0001263	Global developmental delay	134218	DNAJC21	OMIM:260400
HP:0001263	Global developmental delay	27107	ZBTB11	OMIM:618383
HP:0001263	Global developmental delay	435	ASL	OMIM:207900
HP:0001263	Global developmental delay	31	ACACA	OMIM:613933
HP:0001263	Global developmental delay	80036	TRPM3	OMIM:620224
HP:0001263	Global developmental delay	10283	CWC27	ORPHA:166035
HP:0001263	Global developmental delay	10283	CWC27	OMIM:250410
HP:0001263	Global developmental delay	215	ABCD1	ORPHA:369942
HP:0001263	Global developmental delay	10134	BCAP31	ORPHA:369942
HP:0001263	Global developmental delay	10134	BCAP31	OMIM:300475
HP:0001263	Global developmental delay	55624	POMGNT1	ORPHA:370959
HP:0001263	Global developmental delay	55624	POMGNT1	OMIM:253280
HP:0001263	Global developmental delay	55624	POMGNT1	ORPHA:899
HP:0001263	Global developmental delay	51360	MBTPS2	OMIM:308205
HP:0001263	Global developmental delay	51360	MBTPS2	ORPHA:85284
HP:0001263	Global developmental delay	1457	CSNK2A1	OMIM:617062
HP:0001263	Global developmental delay	158326	FREM1	OMIM:248450
HP:0001263	Global developmental delay	158326	FREM1	OMIM:614485
HP:0001263	Global developmental delay	8318	CDC45	OMIM:617063
HP:0001263	Global developmental delay	8318	CDC45	ORPHA:2554
HP:0001263	Global developmental delay	9326	ZNHIT3	OMIM:260565
HP:0001263	Global developmental delay	9326	ZNHIT3	ORPHA:2836
HP:0001263	Global developmental delay	55640	FLVCR2	OMIM:225790
HP:0001263	Global developmental delay	23112	TNRC6B	OMIM:619243
HP:0001263	Global developmental delay	84340	GFM2	OMIM:618397
HP:0001263	Global developmental delay	5625	PRODH	OMIM:239500
HP:0001263	Global developmental delay	93587	TRMT10A	ORPHA:391408
HP:0001263	Global developmental delay	93587	TRMT10A	OMIM:616033
HP:0001263	Global developmental delay	84919	PPP1R15B	ORPHA:391408
HP:0001263	Global developmental delay	2799	GNS	OMIM:252940
HP:0001263	Global developmental delay	10551	AGR2	OMIM:620233
HP:0001263	Global developmental delay	55670	PEX26	ORPHA:772
HP:0001263	Global developmental delay	55670	PEX26	OMIM:614873
HP:0001263	Global developmental delay	5824	PEX19	ORPHA:772
HP:0001263	Global developmental delay	5824	PEX19	OMIM:614886
HP:0001263	Global developmental delay	5828	PEX2	ORPHA:772
HP:0001263	Global developmental delay	5828	PEX2	OMIM:614866
HP:0001263	Global developmental delay	5828	PEX2	OMIM:614867
HP:0001263	Global developmental delay	8504	PEX3	ORPHA:772
HP:0001263	Global developmental delay	8504	PEX3	OMIM:617370
HP:0001263	Global developmental delay	9409	PEX16	ORPHA:772
HP:0001263	Global developmental delay	9409	PEX16	OMIM:614877
HP:0001263	Global developmental delay	5190	PEX6	ORPHA:772
HP:0001263	Global developmental delay	5190	PEX6	OMIM:614863
HP:0001263	Global developmental delay	5190	PEX6	OMIM:616617
HP:0001263	Global developmental delay	8799	PEX11B	ORPHA:772
HP:0001263	Global developmental delay	5830	PEX5	ORPHA:772
HP:0001263	Global developmental delay	5830	PEX5	OMIM:616716
HP:0001263	Global developmental delay	5189	PEX1	ORPHA:772
HP:0001263	Global developmental delay	5189	PEX1	OMIM:214100
HP:0001263	Global developmental delay	5189	PEX1	OMIM:601539
HP:0001263	Global developmental delay	5193	PEX12	ORPHA:772
HP:0001263	Global developmental delay	5193	PEX12	OMIM:266510
HP:0001263	Global developmental delay	5194	PEX13	ORPHA:772
HP:0001263	Global developmental delay	5194	PEX13	OMIM:614883
HP:0001263	Global developmental delay	5195	PEX14	ORPHA:772
HP:0001263	Global developmental delay	5192	PEX10	ORPHA:772
HP:0001263	Global developmental delay	5192	PEX10	ORPHA:247815
HP:0001263	Global developmental delay	5192	PEX10	OMIM:614871
HP:0001263	Global developmental delay	201595	STT3B	ORPHA:370924
HP:0001263	Global developmental delay	201595	STT3B	OMIM:615597
HP:0001263	Global developmental delay	6748	SSR4	ORPHA:370927
HP:0001263	Global developmental delay	6748	SSR4	OMIM:300934
HP:0001263	Global developmental delay	10084	PQBP1	OMIM:309500
HP:0001263	Global developmental delay	10084	PQBP1	ORPHA:93950
HP:0001263	Global developmental delay	10084	PQBP1	ORPHA:93945
HP:0001263	Global developmental delay	10084	PQBP1	ORPHA:93946
HP:0001263	Global developmental delay	10273	STUB1	ORPHA:412057
HP:0001263	Global developmental delay	8831	SYNGAP1	OMIM:612621
HP:0001263	Global developmental delay	8831	SYNGAP1	ORPHA:442835
HP:0001263	Global developmental delay	8831	SYNGAP1	ORPHA:1942
HP:0001263	Global developmental delay	8831	SYNGAP1	ORPHA:544254
HP:0001263	Global developmental delay	284058	KANSL1	OMIM:610443
HP:0001263	Global developmental delay	284058	KANSL1	ORPHA:363958
HP:0001263	Global developmental delay	284058	KANSL1	ORPHA:363965
HP:0001263	Global developmental delay	3643	INSR	ORPHA:769
HP:0001263	Global developmental delay	3643	INSR	OMIM:262190
HP:0001263	Global developmental delay	138050	HGSNAT	OMIM:252930
HP:0001263	Global developmental delay	10020	GNE	ORPHA:3166
HP:0001263	Global developmental delay	10020	GNE	OMIM:269921
HP:0001263	Global developmental delay	81615	TMEM163	OMIM:620243
HP:0001263	Global developmental delay	7474	WNT5A	OMIM:180700
HP:0001263	Global developmental delay	7474	WNT5A	ORPHA:3107
HP:0001263	Global developmental delay	1855	DVL1	OMIM:180700
HP:0001263	Global developmental delay	1855	DVL1	OMIM:616331
HP:0001263	Global developmental delay	1855	DVL1	ORPHA:3107
HP:0001263	Global developmental delay	2801	GOLGA2	OMIM:620240
HP:0001263	Global developmental delay	4860	PNP	ORPHA:760
HP:0001263	Global developmental delay	64802	NMNAT1	OMIM:619260
HP:0001263	Global developmental delay	64802	NMNAT1	ORPHA:65
HP:0001263	Global developmental delay	116150	NUS1	OMIM:617082
HP:0001263	Global developmental delay	116150	NUS1	OMIM:617831
HP:0001263	Global developmental delay	116150	NUS1	ORPHA:442835
HP:0001263	Global developmental delay	55181	SMG8	OMIM:619268
HP:0001263	Global developmental delay	56947	MFF	OMIM:617086
HP:0001263	Global developmental delay	284361	EMC10	OMIM:619264
HP:0001263	Global developmental delay	27445	PCLO	OMIM:608027
HP:0001263	Global developmental delay	1373	CPS1	OMIM:237300
HP:0001263	Global developmental delay	25886	POC1A	OMIM:614813
HP:0001263	Global developmental delay	26146	TRAF3IP1	ORPHA:3156
HP:0001263	Global developmental delay	26146	TRAF3IP1	OMIM:616629
HP:0001263	Global developmental delay	9657	IQCB1	ORPHA:3156
HP:0001263	Global developmental delay	9657	IQCB1	ORPHA:65
HP:0001263	Global developmental delay	10806	SDCCAG8	ORPHA:3156
HP:0001263	Global developmental delay	10806	SDCCAG8	OMIM:615993
HP:0001263	Global developmental delay	27130	INVS	ORPHA:3156
HP:0001263	Global developmental delay	80184	CEP290	ORPHA:3156
HP:0001263	Global developmental delay	80184	CEP290	ORPHA:65
HP:0001263	Global developmental delay	80184	CEP290	ORPHA:2318
HP:0001263	Global developmental delay	80184	CEP290	OMIM:615991
HP:0001263	Global developmental delay	80184	CEP290	OMIM:610188
HP:0001263	Global developmental delay	261734	NPHP4	ORPHA:3156
HP:0001263	Global developmental delay	57728	WDR19	ORPHA:3156
HP:0001263	Global developmental delay	27031	NPHP3	ORPHA:3156
HP:0001263	Global developmental delay	22897	CEP164	ORPHA:3156
HP:0001263	Global developmental delay	22897	CEP164	OMIM:614845
HP:0001263	Global developmental delay	2260	FGFR1	ORPHA:3157
HP:0001263	Global developmental delay	2260	FGFR1	ORPHA:2396
HP:0001263	Global developmental delay	2260	FGFR1	OMIM:613001
HP:0001263	Global developmental delay	2260	FGFR1	OMIM:615465
HP:0001263	Global developmental delay	128674	PROKR2	ORPHA:3157
HP:0001263	Global developmental delay	128674	PROKR2	ORPHA:95496
HP:0001263	Global developmental delay	6657	SOX2	ORPHA:3157
HP:0001263	Global developmental delay	6657	SOX2	OMIM:206900
HP:0001263	Global developmental delay	6657	SOX2	ORPHA:77298
HP:0001263	Global developmental delay	6658	SOX3	ORPHA:3157
HP:0001263	Global developmental delay	6658	SOX3	OMIM:300123
HP:0001263	Global developmental delay	9915	ARNT2	ORPHA:3157
HP:0001263	Global developmental delay	8820	HESX1	ORPHA:3157
HP:0001263	Global developmental delay	8820	HESX1	ORPHA:95496
HP:0001263	Global developmental delay	8820	HESX1	OMIM:182230
HP:0001263	Global developmental delay	5015	OTX2	ORPHA:3157
HP:0001263	Global developmental delay	5015	OTX2	OMIM:610125
HP:0001263	Global developmental delay	283450	HECTD4	OMIM:620250
HP:0001263	Global developmental delay	168667	BMPER	OMIM:608022
HP:0001263	Global developmental delay	5138	PDE2A	OMIM:619150
HP:0001263	Global developmental delay	64374	SIL1	OMIM:248800
HP:0001263	Global developmental delay	64374	SIL1	ORPHA:559
HP:0001263	Global developmental delay	2294	FOXF1	OMIM:265380
HP:0001263	Global developmental delay	6535	SLC6A8	OMIM:300352
HP:0001263	Global developmental delay	6535	SLC6A8	ORPHA:52503
HP:0001263	Global developmental delay	26960	NBEA	OMIM:619157
HP:0001263	Global developmental delay	6309	SC5D	ORPHA:46059
HP:0001263	Global developmental delay	26128	KIFBP	OMIM:609460
HP:0001263	Global developmental delay	5631	PRPS1	ORPHA:411543
HP:0001263	Global developmental delay	5631	PRPS1	OMIM:301835
HP:0001263	Global developmental delay	5631	PRPS1	OMIM:300661
HP:0001263	Global developmental delay	5885	RAD21	OMIM:614701
HP:0001263	Global developmental delay	25821	MTO1	OMIM:614702
HP:0001263	Global developmental delay	7518	XRCC4	ORPHA:99812
HP:0001263	Global developmental delay	7518	XRCC4	OMIM:616541
HP:0001263	Global developmental delay	3981	LIG4	ORPHA:99812
HP:0001263	Global developmental delay	3981	LIG4	OMIM:606593
HP:0001263	Global developmental delay	6165	RPL35A	OMIM:612528
HP:0001263	Global developmental delay	51343	FZR1	OMIM:620145
HP:0001263	Global developmental delay	51343	FZR1	ORPHA:442835
HP:0001263	Global developmental delay	85300	ATCAY	ORPHA:94122
HP:0001263	Global developmental delay	85300	ATCAY	OMIM:601238
HP:0001263	Global developmental delay	64324	NSD1	ORPHA:821
HP:0001263	Global developmental delay	64324	NSD1	OMIM:117550
HP:0001263	Global developmental delay	64324	NSD1	ORPHA:3447
HP:0001263	Global developmental delay	10297	APC2	ORPHA:821
HP:0001263	Global developmental delay	10297	APC2	OMIM:618677
HP:0001263	Global developmental delay	10297	APC2	OMIM:617169
HP:0001263	Global developmental delay	4784	NFIX	ORPHA:447980
HP:0001263	Global developmental delay	4784	NFIX	OMIM:602535
HP:0001263	Global developmental delay	613	BCR	ORPHA:261330
HP:0001263	Global developmental delay	1399	CRKL	ORPHA:261330
HP:0001263	Global developmental delay	5594	MAPK1	ORPHA:261330
HP:0001263	Global developmental delay	5594	MAPK1	OMIM:619087
HP:0001263	Global developmental delay	6392	SDHD	OMIM:619167
HP:0001263	Global developmental delay	6392	SDHD	ORPHA:201
HP:0001263	Global developmental delay	55788	LMBRD1	OMIM:277380
HP:0001263	Global developmental delay	2314	FLII	ORPHA:819
HP:0001263	Global developmental delay	23096	IQSEC2	ORPHA:819
HP:0001263	Global developmental delay	23096	IQSEC2	ORPHA:397933
HP:0001263	Global developmental delay	10522	DEAF1	ORPHA:819
HP:0001263	Global developmental delay	10522	DEAF1	OMIM:615828
HP:0001263	Global developmental delay	10522	DEAF1	OMIM:617171
HP:0001263	Global developmental delay	1717	DHCR7	ORPHA:818
HP:0001263	Global developmental delay	1717	DHCR7	OMIM:270400
HP:0001263	Global developmental delay	29072	SETD2	OMIM:620157
HP:0001263	Global developmental delay	29072	SETD2	OMIM:620155
HP:0001263	Global developmental delay	29072	SETD2	OMIM:616831
HP:0001263	Global developmental delay	5290	PIK3CA	ORPHA:99802
HP:0001263	Global developmental delay	5290	PIK3CA	ORPHA:201
HP:0001263	Global developmental delay	5290	PIK3CA	ORPHA:60040
HP:0001263	Global developmental delay	5290	PIK3CA	OMIM:602501
HP:0001263	Global developmental delay	2475	MTOR	ORPHA:99802
HP:0001263	Global developmental delay	2475	MTOR	ORPHA:457485
HP:0001263	Global developmental delay	10000	AKT3	ORPHA:99802
HP:0001263	Global developmental delay	55780	ERMARD	ORPHA:75857
HP:0001263	Global developmental delay	150468	CKAP2L	ORPHA:3255
HP:0001263	Global developmental delay	26153	KIF26A	OMIM:620156
HP:0001263	Global developmental delay	9382	COG1	OMIM:611209
HP:0001263	Global developmental delay	1185	CLCN6	OMIM:619173
HP:0001263	Global developmental delay	25839	COG4	ORPHA:263501
HP:0001263	Global developmental delay	25839	COG4	OMIM:613489
HP:0001263	Global developmental delay	25839	COG4	OMIM:618150
HP:0001263	Global developmental delay	4718	NDUFC2	OMIM:619170
HP:0001263	Global developmental delay	4001	LMNB1	OMIM:619179
HP:0001263	Global developmental delay	1272	CNTN1	OMIM:612540
HP:0001263	Global developmental delay	92579	G6PC3	OMIM:612541
HP:0001263	Global developmental delay	1801	DPH1	OMIM:616901
HP:0001263	Global developmental delay	1801	DPH1	ORPHA:459061
HP:0001263	Global developmental delay	412	STS	ORPHA:281090
HP:0001263	Global developmental delay	93627	TBCK	OMIM:616900
HP:0001263	Global developmental delay	5080	PAX6	ORPHA:1065
HP:0001263	Global developmental delay	3708	ITPR1	ORPHA:1065
HP:0001263	Global developmental delay	3708	ITPR1	ORPHA:208513
HP:0001263	Global developmental delay	3708	ITPR1	OMIM:117360
HP:0001263	Global developmental delay	55858	TMEM165	OMIM:614727
HP:0001263	Global developmental delay	3778	KCNMA1	OMIM:609446
HP:0001263	Global developmental delay	3778	KCNMA1	OMIM:618596
HP:0001263	Global developmental delay	3778	KCNMA1	ORPHA:79137
HP:0001263	Global developmental delay	3778	KCNMA1	OMIM:617643
HP:0001263	Global developmental delay	64087	MCCC2	OMIM:210210
HP:0001263	Global developmental delay	672	BRCA1	ORPHA:84
HP:0001263	Global developmental delay	672	BRCA1	OMIM:617883
HP:0001263	Global developmental delay	10459	MAD2L2	ORPHA:84
HP:0001263	Global developmental delay	7516	XRCC2	ORPHA:84
HP:0001263	Global developmental delay	29089	UBE2T	ORPHA:84
HP:0001263	Global developmental delay	675	BRCA2	ORPHA:84
HP:0001263	Global developmental delay	55120	FANCL	ORPHA:84
HP:0001263	Global developmental delay	55120	FANCL	OMIM:614083
HP:0001263	Global developmental delay	2177	FANCD2	ORPHA:84
HP:0001263	Global developmental delay	2175	FANCA	ORPHA:84
HP:0001263	Global developmental delay	2187	FANCB	ORPHA:84
HP:0001263	Global developmental delay	2176	FANCC	ORPHA:84
HP:0001263	Global developmental delay	2178	FANCE	ORPHA:84
HP:0001263	Global developmental delay	2178	FANCE	OMIM:600901
HP:0001263	Global developmental delay	2188	FANCF	ORPHA:84
HP:0001263	Global developmental delay	2189	FANCG	ORPHA:84
HP:0001263	Global developmental delay	5888	RAD51	ORPHA:84
HP:0001263	Global developmental delay	5889	RAD51C	ORPHA:84
HP:0001263	Global developmental delay	55159	RFWD3	ORPHA:84
HP:0001263	Global developmental delay	83990	BRIP1	ORPHA:84
HP:0001263	Global developmental delay	83990	BRIP1	OMIM:609054
HP:0001263	Global developmental delay	57697	FANCM	ORPHA:84
HP:0001263	Global developmental delay	79728	PALB2	ORPHA:84
HP:0001263	Global developmental delay	84464	SLX4	ORPHA:84
HP:0001263	Global developmental delay	2072	ERCC4	ORPHA:84
HP:0001263	Global developmental delay	2072	ERCC4	ORPHA:220295
HP:0001263	Global developmental delay	55215	FANCI	ORPHA:84
HP:0001263	Global developmental delay	55215	FANCI	OMIM:609053
HP:0001263	Global developmental delay	54675	CRLS1	OMIM:620167
HP:0001263	Global developmental delay	222663	SCUBE3	OMIM:619184
HP:0001263	Global developmental delay	23116	TOGARAM1	OMIM:619185
HP:0001263	Global developmental delay	23116	TOGARAM1	ORPHA:475
HP:0001263	Global developmental delay	10367	MICU1	ORPHA:401768
HP:0001263	Global developmental delay	10367	MICU1	OMIM:615673
HP:0001263	Global developmental delay	84823	LMNB2	OMIM:619180
HP:0001263	Global developmental delay	84823	LMNB2	OMIM:616540
HP:0001263	Global developmental delay	9184	BUB3	ORPHA:1052
HP:0001263	Global developmental delay	699	BUB1	ORPHA:1052
HP:0001263	Global developmental delay	9702	CEP57	ORPHA:1052
HP:0001263	Global developmental delay	9319	TRIP13	ORPHA:1052
HP:0001263	Global developmental delay	9319	TRIP13	OMIM:617598
HP:0001263	Global developmental delay	701	BUB1B	ORPHA:1052
HP:0001263	Global developmental delay	6999	TDO2	OMIM:600627
HP:0001263	Global developmental delay	23036	ZNF292	OMIM:619188
HP:0001263	Global developmental delay	55148	UBR7	OMIM:619189
HP:0001263	Global developmental delay	11284	PNKP	OMIM:613402
HP:0001263	Global developmental delay	11284	PNKP	ORPHA:1934
HP:0001263	Global developmental delay	56922	MCCC1	OMIM:210200
HP:0001263	Global developmental delay	3070	HELLS	OMIM:616911
HP:0001263	Global developmental delay	3070	HELLS	ORPHA:2268
HP:0001263	Global developmental delay	1028	CDKN1C	OMIM:614732
HP:0001263	Global developmental delay	1028	CDKN1C	ORPHA:397590
HP:0001263	Global developmental delay	63894	VIPAS39	OMIM:613404
HP:0001263	Global developmental delay	83879	CDCA7	OMIM:616910
HP:0001263	Global developmental delay	83879	CDCA7	ORPHA:2268
HP:0001263	Global developmental delay	1906	EDN1	ORPHA:137888
HP:0001263	Global developmental delay	5332	PLCB4	ORPHA:137888
HP:0001263	Global developmental delay	2773	GNAI3	ORPHA:137888
HP:0001263	Global developmental delay	54872	PIGG	OMIM:616917
HP:0001263	Global developmental delay	54872	PIGG	ORPHA:280
HP:0001263	Global developmental delay	25942	SIN3A	OMIM:613406
HP:0001263	Global developmental delay	25942	SIN3A	ORPHA:94065
HP:0001263	Global developmental delay	10815	CPLX1	OMIM:194190
HP:0001263	Global developmental delay	10815	CPLX1	ORPHA:280
HP:0001263	Global developmental delay	10815	CPLX1	ORPHA:352582
HP:0001263	Global developmental delay	10815	CPLX1	OMIM:617976
HP:0001263	Global developmental delay	1487	CTBP1	OMIM:194190
HP:0001263	Global developmental delay	1487	CTBP1	ORPHA:280
HP:0001263	Global developmental delay	1487	CTBP1	OMIM:617915
HP:0001263	Global developmental delay	53834	FGFRL1	OMIM:194190
HP:0001263	Global developmental delay	3954	LETM1	OMIM:194190
HP:0001263	Global developmental delay	3954	LETM1	ORPHA:280
HP:0001263	Global developmental delay	3954	LETM1	OMIM:620089
HP:0001263	Global developmental delay	84947	SERAC1	OMIM:614739
HP:0001263	Global developmental delay	383	ARG1	ORPHA:90
HP:0001263	Global developmental delay	383	ARG1	OMIM:207800
HP:0001263	Global developmental delay	9653	HS2ST1	OMIM:619194
HP:0001263	Global developmental delay	3769	KCNJ13	ORPHA:65
HP:0001263	Global developmental delay	343035	RD3	ORPHA:65
HP:0001263	Global developmental delay	145226	RDH12	ORPHA:65
HP:0001263	Global developmental delay	1406	CRX	ORPHA:65
HP:0001263	Global developmental delay	57096	RPGRIP1	ORPHA:65
HP:0001263	Global developmental delay	57096	RPGRIP1	OMIM:613826
HP:0001263	Global developmental delay	10383	TUBB4B	ORPHA:65
HP:0001263	Global developmental delay	9742	IFT140	ORPHA:65
HP:0001263	Global developmental delay	9742	IFT140	OMIM:617781
HP:0001263	Global developmental delay	9742	IFT140	OMIM:266920
HP:0001263	Global developmental delay	85015	USP45	ORPHA:65
HP:0001263	Global developmental delay	6121	RPE65	ORPHA:65
HP:0001263	Global developmental delay	23418	CRB1	ORPHA:65
HP:0001263	Global developmental delay	5130	PCYT1A	ORPHA:65
HP:0001263	Global developmental delay	392255	GDF6	ORPHA:65
HP:0001263	Global developmental delay	23746	AIPL1	ORPHA:65
HP:0001263	Global developmental delay	3000	GUCY2D	ORPHA:65
HP:0001263	Global developmental delay	9227	LRAT	ORPHA:65
HP:0001263	Global developmental delay	55812	SPATA7	ORPHA:65
HP:0001263	Global developmental delay	7287	TULP1	ORPHA:65
HP:0001263	Global developmental delay	167691	LCA5	ORPHA:65
HP:0001263	Global developmental delay	3614	IMPDH1	ORPHA:65
HP:0001263	Global developmental delay	7025	NR2F1	ORPHA:401777
HP:0001263	Global developmental delay	7025	NR2F1	OMIM:615722
HP:0001263	Global developmental delay	56006	SMG9	OMIM:616920
HP:0001263	Global developmental delay	51660	MPC1	OMIM:614741
HP:0001263	Global developmental delay	84720	PIGO	OMIM:614749
HP:0001263	Global developmental delay	84720	PIGO	ORPHA:247262
HP:0001263	Global developmental delay	89884	LHX4	ORPHA:95496
HP:0001263	Global developmental delay	55717	WDR11	ORPHA:95496
HP:0001263	Global developmental delay	6091	ROBO1	ORPHA:95496
HP:0001263	Global developmental delay	6091	ROBO1	OMIM:620305
HP:0001263	Global developmental delay	50937	CDON	ORPHA:95496
HP:0001263	Global developmental delay	50937	CDON	OMIM:614226
HP:0001263	Global developmental delay	23432	GPR161	ORPHA:95496
HP:0001263	Global developmental delay	11128	POLR3A	OMIM:264090
HP:0001263	Global developmental delay	11128	POLR3A	OMIM:607694
HP:0001263	Global developmental delay	11128	POLR3A	ORPHA:3455
HP:0001263	Global developmental delay	11128	POLR3A	ORPHA:447896
HP:0001263	Global developmental delay	8379	MAD1L1	OMIM:620189
HP:0001263	Global developmental delay	5649	RELN	OMIM:257320
HP:0001263	Global developmental delay	80025	PANK2	OMIM:234200
HP:0001263	Global developmental delay	80025	PANK2	ORPHA:216866
HP:0001263	Global developmental delay	55719	SLF2	OMIM:620184
HP:0001263	Global developmental delay	55343	SLC35C1	OMIM:266265
HP:0001263	Global developmental delay	79759	ZNF668	OMIM:620194
HP:0001263	Global developmental delay	283209	PGM2L1	OMIM:620191
HP:0001263	Global developmental delay	1737	DLAT	OMIM:245348
HP:0001263	Global developmental delay	1737	DLAT	ORPHA:79244
HP:0001263	Global developmental delay	79228	THOC6	ORPHA:363444
HP:0001263	Global developmental delay	79228	THOC6	OMIM:613680
HP:0001263	Global developmental delay	3251	HPRT1	OMIM:300322
HP:0001263	Global developmental delay	3251	HPRT1	ORPHA:79233
HP:0001263	Global developmental delay	8050	PDHX	OMIM:245349
HP:0001263	Global developmental delay	8050	PDHX	ORPHA:255182
HP:0001263	Global developmental delay	23522	KAT6B	ORPHA:85201
HP:0001263	Global developmental delay	23522	KAT6B	OMIM:606170
HP:0001263	Global developmental delay	23522	KAT6B	ORPHA:3047
HP:0001263	Global developmental delay	4256	MGP	ORPHA:85202
HP:0001263	Global developmental delay	4256	MGP	OMIM:245150
HP:0001263	Global developmental delay	23261	CAMTA1	OMIM:614756
HP:0001263	Global developmental delay	23261	CAMTA1	ORPHA:314647
HP:0001263	Global developmental delay	2255	FGF10	ORPHA:2363
HP:0001263	Global developmental delay	54112	GPR88	OMIM:616939
HP:0001263	Global developmental delay	6605	SMARCE1	OMIM:616938
HP:0001263	Global developmental delay	388015	RTL1	ORPHA:96334
HP:0001263	Global developmental delay	388015	RTL1	ORPHA:254534
HP:0001263	Global developmental delay	388015	RTL1	ORPHA:254528
HP:0001263	Global developmental delay	8788	DLK1	ORPHA:96334
HP:0001263	Global developmental delay	8788	DLK1	ORPHA:254534
HP:0001263	Global developmental delay	8788	DLK1	ORPHA:254528
HP:0001263	Global developmental delay	55384	MEG3	ORPHA:96334
HP:0001263	Global developmental delay	55384	MEG3	ORPHA:254534
HP:0001263	Global developmental delay	55384	MEG3	ORPHA:254528
HP:0001263	Global developmental delay	415	ARSL	OMIM:302950
HP:0001263	Global developmental delay	415	ARSL	ORPHA:79345
HP:0001263	Global developmental delay	51322	WAC	ORPHA:284169
HP:0001263	Global developmental delay	51322	WAC	ORPHA:466950
HP:0001263	Global developmental delay	51322	WAC	OMIM:616708
HP:0001263	Global developmental delay	10735	STAG2	ORPHA:521258
HP:0001263	Global developmental delay	10735	STAG2	OMIM:301043
HP:0001263	Global developmental delay	10735	STAG2	OMIM:301022
HP:0001263	Global developmental delay	6611	SMS	OMIM:309583
HP:0001263	Global developmental delay	81887	LAS1L	OMIM:309585
HP:0001263	Global developmental delay	81887	LAS1L	ORPHA:3459
HP:0001263	Global developmental delay	2961	GTF2E2	OMIM:616943
HP:0001263	Global developmental delay	2961	GTF2E2	ORPHA:33364
HP:0001263	Global developmental delay	147372	CCBE1	OMIM:235510
HP:0001263	Global developmental delay	6314	ATXN7	ORPHA:94147
HP:0001263	Global developmental delay	171023	ASXL1	OMIM:605039
HP:0001263	Global developmental delay	22907	DHX30	OMIM:617804
HP:0001263	Global developmental delay	9990	SLC12A6	ORPHA:1496
HP:0001263	Global developmental delay	9990	SLC12A6	OMIM:218000
HP:0001263	Global developmental delay	7407	VARS1	OMIM:617802
HP:0001263	Global developmental delay	9894	TELO2	OMIM:616954
HP:0001263	Global developmental delay	57724	EPG5	ORPHA:1493
HP:0001263	Global developmental delay	57724	EPG5	OMIM:242840
HP:0001263	Global developmental delay	196528	ARID2	OMIM:617808
HP:0001263	Global developmental delay	9230	RAB11B	OMIM:617807
HP:0001263	Global developmental delay	10535	RNASEH2A	ORPHA:51
HP:0001263	Global developmental delay	84153	RNASEH2C	ORPHA:51
HP:0001263	Global developmental delay	25939	SAMHD1	ORPHA:51
HP:0001263	Global developmental delay	25939	SAMHD1	OMIM:612952
HP:0001263	Global developmental delay	79621	RNASEH2B	ORPHA:51
HP:0001263	Global developmental delay	103	ADAR	ORPHA:51
HP:0001263	Global developmental delay	100147744	RNU7-1	ORPHA:51
HP:0001263	Global developmental delay	100147744	RNU7-1	OMIM:619487
HP:0001263	Global developmental delay	134353	LSM11	ORPHA:51
HP:0001263	Global developmental delay	64135	IFIH1	ORPHA:51
HP:0001263	Global developmental delay	64135	IFIH1	OMIM:615846
HP:0001263	Global developmental delay	56052	ALG1	OMIM:608540
HP:0001263	Global developmental delay	56052	ALG1	ORPHA:79327
HP:0001263	Global developmental delay	10075	HUWE1	OMIM:309590
HP:0001263	Global developmental delay	6323	SCN1A	OMIM:607208
HP:0001263	Global developmental delay	6323	SCN1A	ORPHA:442835
HP:0001263	Global developmental delay	6323	SCN1A	ORPHA:1942
HP:0001263	Global developmental delay	6323	SCN1A	OMIM:619317
HP:0001263	Global developmental delay	22856	CHSY1	ORPHA:363417
HP:0001263	Global developmental delay	22856	CHSY1	OMIM:605282
HP:0001263	Global developmental delay	60529	ALX4	OMIM:613451
HP:0001263	Global developmental delay	60529	ALX4	ORPHA:52022
HP:0001263	Global developmental delay	8733	GPAA1	OMIM:617810
HP:0001263	Global developmental delay	2290	FOXG1	OMIM:613454
HP:0001263	Global developmental delay	2290	FOXG1	ORPHA:442835
HP:0001263	Global developmental delay	79848	CSPP1	OMIM:615636
HP:0001263	Global developmental delay	79848	CSPP1	ORPHA:397715
HP:0001263	Global developmental delay	79848	CSPP1	ORPHA:475
HP:0001263	Global developmental delay	6513	SLC2A1	OMIM:612126
HP:0001263	Global developmental delay	6513	SLC2A1	OMIM:606777
HP:0001263	Global developmental delay	6513	SLC2A1	ORPHA:1942
HP:0001263	Global developmental delay	6513	SLC2A1	ORPHA:168577
HP:0001263	Global developmental delay	6513	SLC2A1	OMIM:608885
HP:0001263	Global developmental delay	6513	SLC2A1	ORPHA:71277
HP:0001263	Global developmental delay	29123	ANKRD11	ORPHA:2332
HP:0001263	Global developmental delay	29123	ANKRD11	OMIM:148050
HP:0001263	Global developmental delay	9759	HDAC4	ORPHA:1001
HP:0001263	Global developmental delay	9759	HDAC4	OMIM:600430
HP:0001263	Global developmental delay	9759	HDAC4	OMIM:619797
HP:0001263	Global developmental delay	11133	KPTN	OMIM:615637
HP:0001263	Global developmental delay	6334	SCN8A	OMIM:614306
HP:0001263	Global developmental delay	6334	SCN8A	ORPHA:442835
HP:0001263	Global developmental delay	6334	SCN8A	OMIM:614558
HP:0001263	Global developmental delay	50943	FOXP3	OMIM:304790
HP:0001263	Global developmental delay	5279	PIGC	OMIM:617816
HP:0001263	Global developmental delay	57465	TBC1D24	OMIM:605021
HP:0001263	Global developmental delay	57465	TBC1D24	ORPHA:79500
HP:0001263	Global developmental delay	57465	TBC1D24	ORPHA:352596
HP:0001263	Global developmental delay	57465	TBC1D24	ORPHA:352582
HP:0001263	Global developmental delay	57465	TBC1D24	OMIM:220500
HP:0001263	Global developmental delay	57465	TBC1D24	OMIM:615338
HP:0001263	Global developmental delay	91147	TMEM67	OMIM:216360
HP:0001263	Global developmental delay	91147	TMEM67	OMIM:615991
HP:0001263	Global developmental delay	91147	TMEM67	OMIM:610688
HP:0001263	Global developmental delay	91147	TMEM67	ORPHA:475
HP:0001263	Global developmental delay	91147	TMEM67	OMIM:613550
HP:0001263	Global developmental delay	9150	CTDP1	OMIM:604168
HP:0001263	Global developmental delay	9150	CTDP1	ORPHA:48431
HP:0001263	Global developmental delay	79587	CARS2	ORPHA:477774
HP:0001263	Global developmental delay	79587	CARS2	OMIM:616672
HP:0001263	Global developmental delay	84162	BLTP1	OMIM:617822
HP:0001263	Global developmental delay	80347	COASY	OMIM:615643
HP:0001263	Global developmental delay	123016	TTC8	OMIM:613464
HP:0001263	Global developmental delay	123016	TTC8	OMIM:615985
HP:0001263	Global developmental delay	2902	GRIN1	OMIM:617820
HP:0001263	Global developmental delay	2902	GRIN1	ORPHA:1934
HP:0001263	Global developmental delay	2782	GNB1	OMIM:616973
HP:0001263	Global developmental delay	2782	GNB1	ORPHA:488613
HP:0001263	Global developmental delay	3097	HIVEP2	OMIM:616977
HP:0001263	Global developmental delay	2561	GABRB2	OMIM:617829
HP:0001263	Global developmental delay	2561	GABRB2	ORPHA:442835
HP:0001263	Global developmental delay	54820	NDE1	OMIM:605013
HP:0001263	Global developmental delay	54820	NDE1	ORPHA:2177
HP:0001263	Global developmental delay	54820	NDE1	OMIM:614019
HP:0001263	Global developmental delay	6638	SNRPN	ORPHA:177904
HP:0001263	Global developmental delay	6638	SNRPN	ORPHA:177901
HP:0001263	Global developmental delay	6638	SNRPN	ORPHA:177910
HP:0001263	Global developmental delay	6638	SNRPN	ORPHA:177907
HP:0001263	Global developmental delay	6638	SNRPN	OMIM:105830
HP:0001263	Global developmental delay	6638	SNRPN	ORPHA:98754
HP:0001263	Global developmental delay	4692	NDN	ORPHA:177904
HP:0001263	Global developmental delay	4692	NDN	ORPHA:177901
HP:0001263	Global developmental delay	4692	NDN	ORPHA:177910
HP:0001263	Global developmental delay	4692	NDN	ORPHA:98754
HP:0001263	Global developmental delay	4948	OCA2	ORPHA:177904
HP:0001263	Global developmental delay	4948	OCA2	ORPHA:177901
HP:0001263	Global developmental delay	4948	OCA2	ORPHA:98794
HP:0001263	Global developmental delay	4948	OCA2	ORPHA:98754
HP:0001263	Global developmental delay	55906	ZC4H2	OMIM:314580
HP:0001263	Global developmental delay	55906	ZC4H2	ORPHA:3454
HP:0001263	Global developmental delay	55906	ZC4H2	OMIM:301041
HP:0001263	Global developmental delay	23732	FRRS1L	OMIM:616981
HP:0001263	Global developmental delay	10560	SLC19A2	OMIM:249270
HP:0001263	Global developmental delay	4915	NTRK2	OMIM:617830
HP:0001263	Global developmental delay	4915	NTRK2	ORPHA:442835
HP:0001263	Global developmental delay	51741	WWOX	OMIM:614322
HP:0001263	Global developmental delay	51741	WWOX	ORPHA:442835
HP:0001263	Global developmental delay	51741	WWOX	OMIM:616211
HP:0001263	Global developmental delay	4358	MPV17	OMIM:256810
HP:0001263	Global developmental delay	6663	SOX10	ORPHA:163746
HP:0001263	Global developmental delay	6663	SOX10	OMIM:611584
HP:0001263	Global developmental delay	6663	SOX10	OMIM:609136
HP:0001263	Global developmental delay	79947	DHDDS	OMIM:617836
HP:0001263	Global developmental delay	79947	DHDDS	ORPHA:442835
HP:0001263	Global developmental delay	91137	SLC25A46	OMIM:616505
HP:0001263	Global developmental delay	91137	SLC25A46	ORPHA:2254
HP:0001263	Global developmental delay	2138	EYA1	ORPHA:2792
HP:0001263	Global developmental delay	5075	PAX1	ORPHA:2792
HP:0001263	Global developmental delay	5075	PAX1	OMIM:615560
HP:0001263	Global developmental delay	79583	TMEM231	ORPHA:2318
HP:0001263	Global developmental delay	79583	TMEM231	ORPHA:2754
HP:0001263	Global developmental delay	79583	TMEM231	OMIM:614970
HP:0001263	Global developmental delay	51524	TMEM138	ORPHA:2318
HP:0001263	Global developmental delay	23090	ZNF423	ORPHA:2318
HP:0001263	Global developmental delay	57545	CC2D2A	ORPHA:2318
HP:0001263	Global developmental delay	57545	CC2D2A	OMIM:619111
HP:0001263	Global developmental delay	57545	CC2D2A	OMIM:612285
HP:0001263	Global developmental delay	6469	SHH	OMIM:142945
HP:0001263	Global developmental delay	5147	PDE6D	OMIM:615665
HP:0001263	Global developmental delay	5147	PDE6D	ORPHA:2754
HP:0001263	Global developmental delay	5147	PDE6D	ORPHA:475
HP:0001263	Global developmental delay	4041	LRP5	ORPHA:2788
HP:0001263	Global developmental delay	4854	NOTCH3	ORPHA:2789
HP:0001263	Global developmental delay	4854	NOTCH3	OMIM:130720
HP:0001263	Global developmental delay	121278	TPH2	OMIM:613003
HP:0001263	Global developmental delay	4914	NTRK1	OMIM:256800
HP:0001263	Global developmental delay	114548	NLRP3	ORPHA:1451
HP:0001263	Global developmental delay	9750	RIPOR2	OMIM:616515
HP:0001263	Global developmental delay	5723	PSPH	ORPHA:79350
HP:0001263	Global developmental delay	5723	PSPH	OMIM:614023
HP:0001263	Global developmental delay	139285	AMER1	ORPHA:2780
HP:0001263	Global developmental delay	2313	FLI1	ORPHA:2308
HP:0001263	Global developmental delay	326625	MMAB	OMIM:251110
HP:0001263	Global developmental delay	760	CA2	ORPHA:2785
HP:0001263	Global developmental delay	9361	LONP1	ORPHA:1458
HP:0001263	Global developmental delay	9361	LONP1	OMIM:600373
HP:0001263	Global developmental delay	55180	LINS1	OMIM:614340
HP:0001263	Global developmental delay	1213	CLTC	OMIM:617854
HP:0001263	Global developmental delay	1213	CLTC	ORPHA:442835
HP:0001263	Global developmental delay	23040	MYT1L	OMIM:616521
HP:0001263	Global developmental delay	23040	MYT1L	ORPHA:647799
HP:0001263	Global developmental delay	80152	CENPT	OMIM:618702
HP:0001263	Global developmental delay	28514	DLL1	OMIM:618709
HP:0001263	Global developmental delay	23556	PIGN	ORPHA:280633
HP:0001263	Global developmental delay	23556	PIGN	OMIM:614080
HP:0001263	Global developmental delay	122553	TRAPPC6B	OMIM:617862
HP:0001263	Global developmental delay	2893	GRIA4	OMIM:617864
HP:0001263	Global developmental delay	81562	LMAN2L	OMIM:617863
HP:0001263	Global developmental delay	81562	LMAN2L	OMIM:616887
HP:0001263	Global developmental delay	57570	TRMT5	OMIM:616539
HP:0001263	Global developmental delay	1605	DAG1	OMIM:616538
HP:0001263	Global developmental delay	1605	DAG1	OMIM:613818
HP:0001263	Global developmental delay	1605	DAG1	ORPHA:899
HP:0001263	Global developmental delay	8292	COLQ	ORPHA:98915
HP:0001263	Global developmental delay	3913	LAMB2	ORPHA:98915
HP:0001263	Global developmental delay	3913	LAMB2	OMIM:609049
HP:0001263	Global developmental delay	84628	NTNG2	OMIM:618718
HP:0001263	Global developmental delay	5456	POU3F4	ORPHA:1435
HP:0001263	Global developmental delay	55691	FRMD4A	ORPHA:466688
HP:0001263	Global developmental delay	55691	FRMD4A	OMIM:616819
HP:0001263	Global developmental delay	10577	NPC2	OMIM:607625
HP:0001263	Global developmental delay	5422	POLA1	OMIM:301220
HP:0001263	Global developmental delay	5422	POLA1	OMIM:301030
HP:0001263	Global developmental delay	54802	TRIT1	OMIM:617873
HP:0001263	Global developmental delay	51099	ABHD5	ORPHA:98907
HP:0001263	Global developmental delay	51317	PHF21A	OMIM:618725
HP:0001263	Global developmental delay	51317	PHF21A	ORPHA:52022
HP:0001263	Global developmental delay	4724	NDUFS4	OMIM:252010
HP:0001263	Global developmental delay	4724	NDUFS4	ORPHA:2609
HP:0001263	Global developmental delay	387	RHOA	OMIM:618727
HP:0001263	Global developmental delay	1788	DNMT3A	OMIM:618724
HP:0001263	Global developmental delay	1788	DNMT3A	OMIM:615879
HP:0001263	Global developmental delay	4750	NEK1	ORPHA:2751
HP:0001263	Global developmental delay	6496	SIX3	OMIM:157170
HP:0001263	Global developmental delay	8086	AAAS	OMIM:231550
HP:0001263	Global developmental delay	26123	TCTN3	ORPHA:2753
HP:0001263	Global developmental delay	26123	TCTN3	ORPHA:2754
HP:0001263	Global developmental delay	26123	TCTN3	ORPHA:475
HP:0001263	Global developmental delay	6389	SDHA	OMIM:252011
HP:0001263	Global developmental delay	10210	TOPORS	ORPHA:2754
HP:0001263	Global developmental delay	9851	KIAA0753	ORPHA:2754
HP:0001263	Global developmental delay	9851	KIAA0753	OMIM:619476
HP:0001263	Global developmental delay	9851	KIAA0753	ORPHA:475
HP:0001263	Global developmental delay	65250	CPLANE1	ORPHA:2754
HP:0001263	Global developmental delay	65250	CPLANE1	OMIM:614615
HP:0001263	Global developmental delay	65250	CPLANE1	OMIM:277170
HP:0001263	Global developmental delay	65250	CPLANE1	ORPHA:475
HP:0001263	Global developmental delay	8481	OFD1	ORPHA:2754
HP:0001263	Global developmental delay	8481	OFD1	OMIM:300804
HP:0001263	Global developmental delay	8481	OFD1	ORPHA:475
HP:0001263	Global developmental delay	8481	OFD1	OMIM:300209
HP:0001263	Global developmental delay	374654	KIF7	ORPHA:2754
HP:0001263	Global developmental delay	374654	KIF7	OMIM:607131
HP:0001263	Global developmental delay	51075	TMX2	OMIM:618730
HP:0001263	Global developmental delay	57647	DHX37	OMIM:618731
HP:0001263	Global developmental delay	65057	ACD	OMIM:616553
HP:0001263	Global developmental delay	65057	ACD	ORPHA:3322
HP:0001263	Global developmental delay	1806	DPYD	ORPHA:293948
HP:0001263	Global developmental delay	1806	DPYD	ORPHA:1675
HP:0001263	Global developmental delay	7471	WNT1	OMIM:615220
HP:0001263	Global developmental delay	10736	SIX2	ORPHA:488437
HP:0001263	Global developmental delay	51763	INPP5K	OMIM:617404
HP:0001263	Global developmental delay	7337	UBE3A	ORPHA:411511
HP:0001263	Global developmental delay	7337	UBE3A	OMIM:105830
HP:0001263	Global developmental delay	7337	UBE3A	ORPHA:238446
HP:0001263	Global developmental delay	7337	UBE3A	ORPHA:98794
HP:0001263	Global developmental delay	7337	UBE3A	ORPHA:98795
HP:0001263	Global developmental delay	8449	DHX16	OMIM:618733
HP:0001263	Global developmental delay	6655	SOS2	OMIM:616559
HP:0001263	Global developmental delay	3852	KRT5	ORPHA:79396
HP:0001263	Global developmental delay	3852	KRT5	OMIM:619599
HP:0001263	Global developmental delay	3861	KRT14	ORPHA:79396
HP:0001263	Global developmental delay	7528	YY1	ORPHA:506358
HP:0001263	Global developmental delay	7528	YY1	OMIM:617557
HP:0001263	Global developmental delay	1497	CTNS	OMIM:219800
HP:0001263	Global developmental delay	2218	FKTN	ORPHA:272
HP:0001263	Global developmental delay	2218	FKTN	OMIM:236670
HP:0001263	Global developmental delay	2218	FKTN	ORPHA:899
HP:0001263	Global developmental delay	4791	NFKB2	ORPHA:293978
HP:0001263	Global developmental delay	4791	NFKB2	OMIM:615577
HP:0001263	Global developmental delay	10617	STAMBP	OMIM:614261
HP:0001263	Global developmental delay	8367	H4C5	OMIM:619950
HP:0001263	Global developmental delay	8294	H4C9	OMIM:619951
HP:0001263	Global developmental delay	9853	RUSC2	OMIM:617773
HP:0001263	Global developmental delay	197322	ACSF3	OMIM:614265
HP:0001263	Global developmental delay	197322	ACSF3	ORPHA:289504
HP:0001263	Global developmental delay	3703	STT3A	OMIM:615596
HP:0001263	Global developmental delay	3703	STT3A	ORPHA:370921
HP:0001263	Global developmental delay	343450	KCNT2	OMIM:617771
HP:0001263	Global developmental delay	27247	NFU1	OMIM:620938
HP:0001263	Global developmental delay	27247	NFU1	OMIM:605711
HP:0001263	Global developmental delay	6873	TAF2	OMIM:615599
HP:0001263	Global developmental delay	6873	TAF2	ORPHA:397951
HP:0001263	Global developmental delay	10054	UBA2	OMIM:619959
HP:0001263	Global developmental delay	55627	SMPD4	OMIM:618622
HP:0001263	Global developmental delay	23417	MLYCD	OMIM:248360
HP:0001263	Global developmental delay	81857	MED25	OMIM:616449
HP:0001263	Global developmental delay	5361	PLXNA1	OMIM:619955
HP:0001263	Global developmental delay	64682	ANAPC1	OMIM:618625
HP:0001263	Global developmental delay	64682	ANAPC1	ORPHA:221008
HP:0001263	Global developmental delay	9786	KIAA0586	ORPHA:397715
HP:0001263	Global developmental delay	9786	KIAA0586	OMIM:616490
HP:0001263	Global developmental delay	9786	KIAA0586	ORPHA:475
HP:0001263	Global developmental delay	57165	GJC2	OMIM:608804
HP:0001263	Global developmental delay	267010	RNU12	OMIM:603116
HP:0001263	Global developmental delay	267010	RNU12	ORPHA:85199
HP:0001263	Global developmental delay	6536	SLC6A9	OMIM:617301
HP:0001263	Global developmental delay	51111	KMT5B	OMIM:617788
HP:0001263	Global developmental delay	790	CAD	OMIM:616457
HP:0001263	Global developmental delay	80155	NAA15	OMIM:617787
HP:0001263	Global developmental delay	65082	VPS33A	OMIM:617303
HP:0001263	Global developmental delay	65082	VPS33A	ORPHA:505248
HP:0001263	Global developmental delay	526	ATP6V1B2	OMIM:616455
HP:0001263	Global developmental delay	526	ATP6V1B2	ORPHA:79500
HP:0001263	Global developmental delay	10730	YME1L1	OMIM:617302
HP:0001263	Global developmental delay	10565	ARFGEF1	OMIM:619964
HP:0001263	Global developmental delay	8309	ACOX2	OMIM:617308
HP:0001263	Global developmental delay	129563	DIS3L2	ORPHA:2849
HP:0001263	Global developmental delay	129563	DIS3L2	OMIM:267000
HP:0001263	Global developmental delay	128486	FITM2	OMIM:618635
HP:0001263	Global developmental delay	28960	DCPS	OMIM:616459
HP:0001263	Global developmental delay	3284	HSD3B2	ORPHA:90791
HP:0001263	Global developmental delay	10559	SLC35A1	OMIM:603585
HP:0001263	Global developmental delay	535	ATP6V0A1	OMIM:619971
HP:0001263	Global developmental delay	535	ATP6V0A1	OMIM:619970
HP:0001263	Global developmental delay	129685	TAF8	OMIM:619972
HP:0001263	Global developmental delay	10584	COLEC10	OMIM:248340
HP:0001263	Global developmental delay	55870	ASH1L	OMIM:617796
HP:0001263	Global developmental delay	91869	RFT1	ORPHA:244310
HP:0001263	Global developmental delay	91869	RFT1	OMIM:612015
HP:0001263	Global developmental delay	816	CAMK2B	OMIM:617799
HP:0001263	Global developmental delay	815	CAMK2A	OMIM:617798
HP:0001263	Global developmental delay	815	CAMK2A	OMIM:618095
HP:0001263	Global developmental delay	23545	ATP6V0A2	ORPHA:2834
HP:0001263	Global developmental delay	23545	ATP6V0A2	ORPHA:357074
HP:0001263	Global developmental delay	23184	MESD	OMIM:618644
HP:0001263	Global developmental delay	79184	BRCC3	ORPHA:280679
HP:0001263	Global developmental delay	2626	GATA4	ORPHA:251071
HP:0001263	Global developmental delay	1281	COL3A1	ORPHA:286
HP:0001263	Global developmental delay	652	BMP4	OMIM:607932
HP:0001263	Global developmental delay	652	BMP4	ORPHA:139471
HP:0001263	Global developmental delay	7469	NELFA	ORPHA:280
HP:0001263	Global developmental delay	22884	WDR37	OMIM:618652
HP:0001263	Global developmental delay	1656	DDX6	OMIM:618653
HP:0001263	Global developmental delay	55714	TENM3	OMIM:615145
HP:0001263	Global developmental delay	83636	C19orf12	OMIM:614298
HP:0001263	Global developmental delay	57178	ZMIZ1	OMIM:618659
HP:0001263	Global developmental delay	388962	BOLA3	OMIM:614299
HP:0001263	Global developmental delay	2783	GNB2	OMIM:619503
HP:0001263	Global developmental delay	26057	ANKRD17	OMIM:619504
HP:0001263	Global developmental delay	9731	CEP104	OMIM:619988
HP:0001263	Global developmental delay	9731	CEP104	OMIM:616781
HP:0001263	Global developmental delay	9731	CEP104	ORPHA:475
HP:0001263	Global developmental delay	3737	KCNA2	ORPHA:442835
HP:0001263	Global developmental delay	3737	KCNA2	OMIM:616366
HP:0001263	Global developmental delay	1759	DNM1	ORPHA:442835
HP:0001263	Global developmental delay	1759	DNM1	OMIM:616346
HP:0001263	Global developmental delay	8120	AP3B2	ORPHA:442835
HP:0001263	Global developmental delay	8120	AP3B2	OMIM:617276
HP:0001263	Global developmental delay	523	ATP6V1A	ORPHA:442835
HP:0001263	Global developmental delay	523	ATP6V1A	OMIM:618012
HP:0001263	Global developmental delay	523	ATP6V1A	ORPHA:357074
HP:0001263	Global developmental delay	10991	SLC38A3	ORPHA:442835
HP:0001263	Global developmental delay	10991	SLC38A3	OMIM:619881
HP:0001263	Global developmental delay	3747	KCNC2	ORPHA:442835
HP:0001263	Global developmental delay	1917	EEF1A2	ORPHA:442835
HP:0001263	Global developmental delay	1917	EEF1A2	OMIM:616409
HP:0001263	Global developmental delay	1917	EEF1A2	OMIM:616393
HP:0001263	Global developmental delay	23219	FBXO28	ORPHA:442835
HP:0001263	Global developmental delay	23219	FBXO28	OMIM:619777
HP:0001263	Global developmental delay	2558	GABRA5	ORPHA:442835
HP:0001263	Global developmental delay	2558	GABRA5	OMIM:618559
HP:0001263	Global developmental delay	2906	GRIN2D	ORPHA:442835
HP:0001263	Global developmental delay	2906	GRIN2D	OMIM:617162
HP:0001263	Global developmental delay	23334	SZT2	ORPHA:442835
HP:0001263	Global developmental delay	348980	HCN1	ORPHA:442835
HP:0001263	Global developmental delay	348980	HCN1	OMIM:618482
HP:0001263	Global developmental delay	25977	NECAP1	ORPHA:442835
HP:0001263	Global developmental delay	23241	PACS2	ORPHA:442835
HP:0001263	Global developmental delay	23241	PACS2	OMIM:618067
HP:0001263	Global developmental delay	9568	GABBR2	ORPHA:442835
HP:0001263	Global developmental delay	2555	GABRA2	ORPHA:442835
HP:0001263	Global developmental delay	2555	GABRA2	OMIM:618557
HP:0001263	Global developmental delay	55152	DALRD3	ORPHA:442835
HP:0001263	Global developmental delay	26999	CYFIP2	ORPHA:442835
HP:0001263	Global developmental delay	25973	PARS2	ORPHA:442835
HP:0001263	Global developmental delay	25973	PARS2	OMIM:618437
HP:0001263	Global developmental delay	23097	CDK19	ORPHA:442835
HP:0001263	Global developmental delay	23097	CDK19	OMIM:618916
HP:0001263	Global developmental delay	2257	FGF12	ORPHA:442835
HP:0001263	Global developmental delay	5530	PPP3CA	ORPHA:442835
HP:0001263	Global developmental delay	5530	PPP3CA	OMIM:618265
HP:0001263	Global developmental delay	5530	PPP3CA	OMIM:617711
HP:0001263	Global developmental delay	22906	TRAK1	ORPHA:442835
HP:0001263	Global developmental delay	22906	TRAK1	OMIM:618201
HP:0001263	Global developmental delay	2566	GABRG2	ORPHA:442835
HP:0001263	Global developmental delay	7532	YWHAG	ORPHA:442835
HP:0001263	Global developmental delay	7532	YWHAG	OMIM:617665
HP:0001263	Global developmental delay	79876	UBA5	ORPHA:442835
HP:0001263	Global developmental delay	79876	UBA5	OMIM:617132
HP:0001263	Global developmental delay	6328	SCN3A	ORPHA:442835
HP:0001263	Global developmental delay	6328	SCN3A	OMIM:617935
HP:0001263	Global developmental delay	6328	SCN3A	OMIM:617938
HP:0001263	Global developmental delay	781	CACNA2D1	ORPHA:442835
HP:0001263	Global developmental delay	10659	CELF2	ORPHA:442835
HP:0001263	Global developmental delay	774	CACNA1B	ORPHA:442835
HP:0001263	Global developmental delay	774	CACNA1B	OMIM:618497
HP:0001263	Global developmental delay	51412	ACTL6B	ORPHA:442835
HP:0001263	Global developmental delay	6506	SLC1A2	ORPHA:442835
HP:0001263	Global developmental delay	6506	SLC1A2	OMIM:617105
HP:0001263	Global developmental delay	8867	SYNJ1	ORPHA:442835
HP:0001263	Global developmental delay	8867	SYNJ1	OMIM:617389
HP:0001263	Global developmental delay	3745	KCNB1	ORPHA:442835
HP:0001263	Global developmental delay	3745	KCNB1	OMIM:616056
HP:0001263	Global developmental delay	284111	SLC13A5	ORPHA:442835
HP:0001263	Global developmental delay	284111	SLC13A5	OMIM:615905
HP:0001263	Global developmental delay	22866	CNKSR2	ORPHA:442835
HP:0001263	Global developmental delay	22866	CNKSR2	OMIM:301008
HP:0001263	Global developmental delay	773	CACNA1A	ORPHA:442835
HP:0001263	Global developmental delay	773	CACNA1A	OMIM:617106
HP:0001263	Global developmental delay	55623	THUMPD1	OMIM:619989
HP:0001263	Global developmental delay	3782	KCNN3	OMIM:618658
HP:0001263	Global developmental delay	8642	DCHS1	OMIM:601390
HP:0001263	Global developmental delay	8642	DCHS1	ORPHA:314679
HP:0001263	Global developmental delay	8241	RBM10	OMIM:311900
HP:0001263	Global developmental delay	8241	RBM10	ORPHA:2886
HP:0001263	Global developmental delay	57167	SALL4	ORPHA:233
HP:0001263	Global developmental delay	9935	MAFB	ORPHA:233
HP:0001263	Global developmental delay	1123	CHN1	ORPHA:233
HP:0001263	Global developmental delay	2074	ERCC6	OMIM:214150
HP:0001263	Global developmental delay	2074	ERCC6	OMIM:278800
HP:0001263	Global developmental delay	253738	EBF3	OMIM:617330
HP:0001263	Global developmental delay	253738	EBF3	ORPHA:96148
HP:0001263	Global developmental delay	23312	DMXL2	OMIM:618663
HP:0001263	Global developmental delay	23312	DMXL2	ORPHA:1934
HP:0001263	Global developmental delay	1182	CLCN3	OMIM:619512
HP:0001263	Global developmental delay	1182	CLCN3	OMIM:619517
HP:0001263	Global developmental delay	85301	COL27A1	OMIM:615155
HP:0001263	Global developmental delay	63895	PIEZO2	OMIM:114300
HP:0001263	Global developmental delay	63895	PIEZO2	ORPHA:2461
HP:0001263	Global developmental delay	63895	PIEZO2	OMIM:617146
HP:0001263	Global developmental delay	84879	MFSD2A	OMIM:616486
HP:0001263	Global developmental delay	84879	MFSD2A	ORPHA:2512
HP:0001263	Global developmental delay	7862	BRPF1	OMIM:617333
HP:0001263	Global developmental delay	213	ALB	OMIM:616000
HP:0001263	Global developmental delay	27089	UQCRQ	OMIM:615159
HP:0001263	Global developmental delay	55699	IARS2	OMIM:616007
HP:0001263	Global developmental delay	54902	TTC19	OMIM:615157
HP:0001263	Global developmental delay	3481	IGF2	OMIM:616489
HP:0001263	Global developmental delay	3481	IGF2	OMIM:180860
HP:0001263	Global developmental delay	3481	IGF2	ORPHA:397590
HP:0001263	Global developmental delay	1660	DHX9	OMIM:620988
HP:0001263	Global developmental delay	4191	MDH2	OMIM:617339
HP:0001263	Global developmental delay	286	ANK1	ORPHA:251066
HP:0001263	Global developmental delay	5354	PLP1	ORPHA:280219
HP:0001263	Global developmental delay	5354	PLP1	OMIM:312080
HP:0001263	Global developmental delay	8659	ALDH4A1	ORPHA:79101
HP:0001263	Global developmental delay	5860	QDPR	ORPHA:226
HP:0001263	Global developmental delay	5860	QDPR	OMIM:261630
HP:0001263	Global developmental delay	166785	MMAA	OMIM:251100
HP:0001263	Global developmental delay	5551	PRF1	OMIM:603553
HP:0001263	Global developmental delay	8676	STX11	OMIM:603552
HP:0001263	Global developmental delay	554	AVPR2	ORPHA:223
HP:0001263	Global developmental delay	359	AQP2	ORPHA:223
HP:0001263	Global developmental delay	26137	ZBTB20	OMIM:259050
HP:0001263	Global developmental delay	9533	POLR1C	OMIM:616494
HP:0001263	Global developmental delay	9533	POLR1C	ORPHA:861
HP:0001263	Global developmental delay	7385	UQCRC2	OMIM:615160
HP:0001263	Global developmental delay	7750	ZMYM2	OMIM:619522
HP:0001263	Global developmental delay	4849	CNOT3	OMIM:618672
HP:0001263	Global developmental delay	57466	SCAF4	OMIM:620511
HP:0001263	Global developmental delay	57492	ARID1B	ORPHA:251056
HP:0001263	Global developmental delay	57492	ARID1B	OMIM:135900
HP:0001263	Global developmental delay	23314	SATB2	ORPHA:576283
HP:0001263	Global developmental delay	23314	SATB2	ORPHA:251028
HP:0001263	Global developmental delay	23314	SATB2	ORPHA:251019
HP:0001263	Global developmental delay	23314	SATB2	OMIM:612313
HP:0001263	Global developmental delay	6324	SCN1B	OMIM:617350
HP:0001263	Global developmental delay	6324	SCN1B	ORPHA:1934
HP:0001263	Global developmental delay	79989	IFT56	OMIM:619534
HP:0001263	Global developmental delay	9922	IQSEC1	OMIM:618687
HP:0001263	Global developmental delay	284098	PIGW	OMIM:616025
HP:0001263	Global developmental delay	284098	PIGW	ORPHA:247262
HP:0001263	Global developmental delay	57479	PRR12	OMIM:619539
HP:0001263	Global developmental delay	2678	GGT1	OMIM:231950
HP:0001263	Global developmental delay	2006	ELN	ORPHA:90348
HP:0001263	Global developmental delay	10516	FBLN5	ORPHA:90348
HP:0001263	Global developmental delay	3785	KCNQ2	ORPHA:439218
HP:0001263	Global developmental delay	3785	KCNQ2	OMIM:613720
HP:0001263	Global developmental delay	3785	KCNQ2	OMIM:121200
HP:0001263	Global developmental delay	3930	LBR	OMIM:169400
HP:0001263	Global developmental delay	1107	CHD3	OMIM:618205
HP:0001263	Global developmental delay	2055	CLN8	ORPHA:1947
HP:0001263	Global developmental delay	404672	GTF2H5	ORPHA:33364
HP:0001263	Global developmental delay	404672	GTF2H5	OMIM:616395
HP:0001263	Global developmental delay	833	CARS1	ORPHA:33364
HP:0001263	Global developmental delay	2068	ERCC2	ORPHA:33364
HP:0001263	Global developmental delay	2068	ERCC2	OMIM:610756
HP:0001263	Global developmental delay	2068	ERCC2	ORPHA:220295
HP:0001263	Global developmental delay	7737	RNF113A	ORPHA:33364
HP:0001263	Global developmental delay	136647	MPLKIP	ORPHA:33364
HP:0001263	Global developmental delay	136647	MPLKIP	OMIM:234050
HP:0001263	Global developmental delay	6897	TARS1	ORPHA:33364
HP:0001263	Global developmental delay	2071	ERCC3	ORPHA:33364
HP:0001263	Global developmental delay	2071	ERCC3	ORPHA:220295
HP:0001263	Global developmental delay	1173	AP2M1	ORPHA:1942
HP:0001263	Global developmental delay	340533	NEXMIF	ORPHA:1942
HP:0001263	Global developmental delay	340533	NEXMIF	OMIM:300912
HP:0001263	Global developmental delay	1106	CHD2	ORPHA:1942
HP:0001263	Global developmental delay	1106	CHD2	OMIM:615369
HP:0001263	Global developmental delay	6529	SLC6A1	ORPHA:1942
HP:0001263	Global developmental delay	6529	SLC6A1	OMIM:616421
HP:0001263	Global developmental delay	9896	FIG4	OMIM:216340
HP:0001263	Global developmental delay	9896	FIG4	ORPHA:3472
HP:0001263	Global developmental delay	9896	FIG4	ORPHA:208441
HP:0001263	Global developmental delay	6595	SMARCA2	OMIM:601358
HP:0001263	Global developmental delay	6595	SMARCA2	ORPHA:3051
HP:0001263	Global developmental delay	6595	SMARCA2	OMIM:619293
HP:0001263	Global developmental delay	148789	B3GALNT2	OMIM:615181
HP:0001263	Global developmental delay	148789	B3GALNT2	ORPHA:899
HP:0001263	Global developmental delay	6812	STXBP1	ORPHA:599373
HP:0001263	Global developmental delay	6576	SLC25A1	OMIM:615182
HP:0001263	Global developmental delay	6576	SLC25A1	OMIM:618197
HP:0001263	Global developmental delay	7040	TGFB1	OMIM:618213
HP:0001263	Global developmental delay	8621	CDK13	OMIM:617360
HP:0001263	Global developmental delay	133686	NADK2	OMIM:616034
HP:0001263	Global developmental delay	133686	NADK2	ORPHA:431361
HP:0001263	Global developmental delay	5587	PRKD1	OMIM:617364
HP:0001263	Global developmental delay	27133	KCNH5	OMIM:620537
HP:0001263	Global developmental delay	11338	U2AF2	OMIM:620535
HP:0001263	Global developmental delay	164	AP1G1	OMIM:619548
HP:0001263	Global developmental delay	164	AP1G1	OMIM:619467
HP:0001263	Global developmental delay	6857	SYT1	OMIM:618218
HP:0001263	Global developmental delay	8905	AP1S2	OMIM:304340
HP:0001263	Global developmental delay	8905	AP1S2	ORPHA:85335
HP:0001263	Global developmental delay	8905	AP1S2	ORPHA:85329
HP:0001263	Global developmental delay	6792	CDKL5	ORPHA:1934
HP:0001263	Global developmental delay	6792	CDKL5	OMIM:300672
HP:0001263	Global developmental delay	3736	KCNA1	ORPHA:1934
HP:0001263	Global developmental delay	9091	PIGQ	ORPHA:1934
HP:0001263	Global developmental delay	140679	SLC32A1	ORPHA:1934
HP:0001263	Global developmental delay	140679	SLC32A1	OMIM:620774
HP:0001263	Global developmental delay	81603	TRIM8	ORPHA:1934
HP:0001263	Global developmental delay	81603	TRIM8	OMIM:619428
HP:0001263	Global developmental delay	79751	SLC25A22	ORPHA:1934
HP:0001263	Global developmental delay	150094	SIK1	ORPHA:1934
HP:0001263	Global developmental delay	150094	SIK1	OMIM:616341
HP:0001263	Global developmental delay	2917	GRM7	ORPHA:1934
HP:0001263	Global developmental delay	170302	ARX	ORPHA:1934
HP:0001263	Global developmental delay	170302	ARX	OMIM:308350
HP:0001263	Global developmental delay	170302	ARX	OMIM:300004
HP:0001263	Global developmental delay	170302	ARX	ORPHA:452
HP:0001263	Global developmental delay	6326	SCN2A	ORPHA:1934
HP:0001263	Global developmental delay	6326	SCN2A	OMIM:613721
HP:0001263	Global developmental delay	51227	PIGP	ORPHA:1934
HP:0001263	Global developmental delay	51227	PIGP	OMIM:617599
HP:0001263	Global developmental delay	8803	SUCLA2	ORPHA:1933
HP:0001263	Global developmental delay	10456	HAX1	OMIM:610738
HP:0001263	Global developmental delay	2737	GLI3	ORPHA:672
HP:0001263	Global developmental delay	2737	GLI3	OMIM:175700
HP:0001263	Global developmental delay	2737	GLI3	OMIM:146510
HP:0001263	Global developmental delay	2737	GLI3	OMIM:174200
HP:0001263	Global developmental delay	3912	LAMB1	OMIM:615191
HP:0001263	Global developmental delay	51750	RTEL1	OMIM:615190
HP:0001263	Global developmental delay	51750	RTEL1	ORPHA:3322
HP:0001263	Global developmental delay	51750	RTEL1	ORPHA:1775
HP:0001263	Global developmental delay	4728	NDUFS8	OMIM:618222
HP:0001263	Global developmental delay	4728	NDUFS8	ORPHA:2609
HP:0001263	Global developmental delay	4723	NDUFV1	OMIM:618225
HP:0001263	Global developmental delay	4723	NDUFV1	ORPHA:2609
HP:0001263	Global developmental delay	30000	TNPO2	OMIM:619556
HP:0001263	Global developmental delay	79705	LRRK1	OMIM:615198
HP:0001263	Global developmental delay	57102	FERRY3	OMIM:618221
HP:0001263	Global developmental delay	4719	NDUFS1	OMIM:618226
HP:0001263	Global developmental delay	4719	NDUFS1	ORPHA:2609
HP:0001263	Global developmental delay	83548	COG3	OMIM:620546
HP:0001263	Global developmental delay	55628	ZNF407	OMIM:619557
HP:0001263	Global developmental delay	8818	DPM2	ORPHA:329178
HP:0001263	Global developmental delay	8818	DPM2	OMIM:615042
HP:0001263	Global developmental delay	4720	NDUFS2	OMIM:618228
HP:0001263	Global developmental delay	4720	NDUFS2	ORPHA:2609
HP:0001263	Global developmental delay	2627	GATA6	OMIM:600001
HP:0001263	Global developmental delay	11160	ERLIN2	ORPHA:209951
HP:0001263	Global developmental delay	55869	HDAC8	OMIM:300882
HP:0001263	Global developmental delay	55869	HDAC8	ORPHA:3459
HP:0001263	Global developmental delay	1349	COX7B	OMIM:300887
HP:0001263	Global developmental delay	1349	COX7B	ORPHA:2556
HP:0001263	Global developmental delay	1349	COX7B	OMIM:309801
HP:0001263	Global developmental delay	91942	NDUFAF2	OMIM:618233
HP:0001263	Global developmental delay	91942	NDUFAF2	ORPHA:2609
HP:0001263	Global developmental delay	650	BMP2	ORPHA:261295
HP:0001263	Global developmental delay	6514	SLC2A2	OMIM:227810
HP:0001263	Global developmental delay	51103	NDUFAF1	OMIM:618234
HP:0001263	Global developmental delay	51103	NDUFAF1	ORPHA:2609
HP:0001263	Global developmental delay	56521	DNAJC12	OMIM:617384
HP:0001263	Global developmental delay	100151683	RNU4ATAC	OMIM:226960
HP:0001263	Global developmental delay	100151683	RNU4ATAC	OMIM:616651
HP:0001263	Global developmental delay	100151683	RNU4ATAC	ORPHA:2636
HP:0001263	Global developmental delay	4695	NDUFA2	OMIM:618235
HP:0001263	Global developmental delay	79868	ALG13	OMIM:300884
HP:0001263	Global developmental delay	126328	NDUFA11	OMIM:618236
HP:0001263	Global developmental delay	126328	NDUFA11	ORPHA:2609
HP:0001263	Global developmental delay	1062	CENPE	OMIM:616051
HP:0001263	Global developmental delay	1062	CENPE	ORPHA:2512
HP:0001263	Global developmental delay	51119	SBDS	OMIM:260400
HP:0001263	Global developmental delay	9342	SNAP29	ORPHA:66631
HP:0001263	Global developmental delay	9342	SNAP29	OMIM:609528
HP:0001263	Global developmental delay	219854	TMEM218	OMIM:619562
HP:0001263	Global developmental delay	219854	TMEM218	ORPHA:475
HP:0001263	Global developmental delay	8312	AXIN1	OMIM:620558
HP:0001263	Global developmental delay	79133	NDUFAF5	OMIM:618238
HP:0001263	Global developmental delay	79133	NDUFAF5	ORPHA:2609
HP:0001263	Global developmental delay	137682	NDUFAF6	OMIM:618239
HP:0001263	Global developmental delay	443	ASPA	ORPHA:314911
HP:0001263	Global developmental delay	443	ASPA	OMIM:271900
HP:0001263	Global developmental delay	2067	ERCC1	OMIM:610758
HP:0001263	Global developmental delay	2710	GK	OMIM:307030
HP:0001263	Global developmental delay	9179	AP4M1	OMIM:612936
HP:0001263	Global developmental delay	9179	AP4M1	ORPHA:280763
HP:0001263	Global developmental delay	9126	SMC3	OMIM:610759
HP:0001263	Global developmental delay	10166	SLC25A15	OMIM:238970
HP:0001263	Global developmental delay	6904	TBCD	ORPHA:496641
HP:0001263	Global developmental delay	6904	TBCD	OMIM:617193
HP:0001263	Global developmental delay	4976	OPA1	ORPHA:98673
HP:0001263	Global developmental delay	351	APP	ORPHA:324703
HP:0001263	Global developmental delay	1741	DLG3	OMIM:300850
HP:0001263	Global developmental delay	3192	HNRNPU	OMIM:617391
HP:0001263	Global developmental delay	3192	HNRNPU	ORPHA:238769
HP:0001263	Global developmental delay	57551	TAOK1	OMIM:619575
HP:0001263	Global developmental delay	56915	EXOSC5	OMIM:619576
HP:0001263	Global developmental delay	22796	COG2	OMIM:617395
HP:0001263	Global developmental delay	4709	NDUFB3	OMIM:618246
HP:0001263	Global developmental delay	4709	NDUFB3	ORPHA:2609
HP:0001263	Global developmental delay	112939	NACC1	OMIM:617393
HP:0001263	Global developmental delay	112939	NACC1	ORPHA:500545
HP:0001263	Global developmental delay	25915	NDUFAF3	OMIM:618240
HP:0001263	Global developmental delay	25915	NDUFAF3	ORPHA:2609
HP:0001263	Global developmental delay	55572	FOXRED1	OMIM:618241
HP:0001263	Global developmental delay	55572	FOXRED1	ORPHA:2609
HP:0001263	Global developmental delay	80224	NUBPL	OMIM:618242
HP:0001263	Global developmental delay	80224	NUBPL	ORPHA:2609
HP:0001263	Global developmental delay	8260	NAA10	OMIM:300855
HP:0001263	Global developmental delay	8260	NAA10	ORPHA:276432
HP:0001263	Global developmental delay	4705	NDUFA10	OMIM:618243
HP:0001263	Global developmental delay	2664	GDI1	OMIM:300849
HP:0001263	Global developmental delay	5831	PYCR1	OMIM:612940
HP:0001263	Global developmental delay	5831	PYCR1	ORPHA:2078
HP:0001263	Global developmental delay	23476	BRD4	OMIM:620568
HP:0001263	Global developmental delay	123263	MTFMT	OMIM:618248
HP:0001263	Global developmental delay	123263	MTFMT	OMIM:614947
HP:0001263	Global developmental delay	51079	NDUFA13	OMIM:618249
HP:0001263	Global developmental delay	10092	ARPC5	OMIM:620565
HP:0001263	Global developmental delay	116442	RAB39B	OMIM:311510
HP:0001263	Global developmental delay	116442	RAB39B	OMIM:300271
HP:0001263	Global developmental delay	23203	PMPCA	OMIM:213200
HP:0001263	Global developmental delay	23203	PMPCA	ORPHA:1170
HP:0001263	Global developmental delay	4864	NPC1	OMIM:257220
HP:0001263	Global developmental delay	56652	TWNK	OMIM:609286
HP:0001263	Global developmental delay	8604	SLC25A12	OMIM:612949
HP:0001263	Global developmental delay	2898	GRIK2	OMIM:619580
HP:0001263	Global developmental delay	2898	GRIK2	OMIM:611092
HP:0001263	Global developmental delay	10483	SEC23B	ORPHA:201
HP:0001263	Global developmental delay	6390	SDHB	ORPHA:201
HP:0001263	Global developmental delay	6391	SDHC	ORPHA:201
HP:0001263	Global developmental delay	207	AKT1	ORPHA:201
HP:0001263	Global developmental delay	205717	USF3	ORPHA:201
HP:0001263	Global developmental delay	100144748	KLLN	ORPHA:201
HP:0001263	Global developmental delay	10524	KAT5	OMIM:619103
HP:0001263	Global developmental delay	9451	EIF2AK3	OMIM:226980
HP:0001263	Global developmental delay	9451	EIF2AK3	ORPHA:1667
HP:0001263	Global developmental delay	51300	TIMMDC1	OMIM:618251
HP:0001263	Global developmental delay	51300	TIMMDC1	ORPHA:2609
HP:0001263	Global developmental delay	80173	IFT74	OMIM:619582
HP:0001263	Global developmental delay	80173	IFT74	ORPHA:475
HP:0001263	Global developmental delay	5277	PIGA	OMIM:300868
HP:0001263	Global developmental delay	5277	PIGA	OMIM:301072
HP:0001263	Global developmental delay	4714	NDUFB8	OMIM:618252
HP:0001263	Global developmental delay	7403	KDM6A	OMIM:300867
HP:0001263	Global developmental delay	7403	KDM6A	OMIM:147920
HP:0001263	Global developmental delay	4700	NDUFA6	OMIM:618253
HP:0001263	Global developmental delay	4700	NDUFA6	ORPHA:2609
HP:0001263	Global developmental delay	26040	SETBP1	OMIM:616078
HP:0001263	Global developmental delay	23384	SPECC1L	OMIM:145420
HP:0001263	Global developmental delay	6023	RMRP	OMIM:607095
HP:0001263	Global developmental delay	8635	RNASET2	OMIM:612951
HP:0001263	Global developmental delay	2683	B4GALT1	OMIM:607091
HP:0001263	Global developmental delay	4990	SIX6	OMIM:206900
HP:0001263	Global developmental delay	990	CDC6	OMIM:613805
HP:0001263	Global developmental delay	990	CDC6	ORPHA:2554
HP:0001263	Global developmental delay	10771	ZMYND11	OMIM:616083
HP:0001263	Global developmental delay	11340	EXOSC8	OMIM:616081
HP:0001263	Global developmental delay	11340	EXOSC8	ORPHA:2254
HP:0001263	Global developmental delay	50814	NSDHL	OMIM:300831
HP:0001263	Global developmental delay	50814	NSDHL	ORPHA:251383
HP:0001263	Global developmental delay	3975	LHX1	ORPHA:261265
HP:0001263	Global developmental delay	6928	HNF1B	ORPHA:261265
HP:0001263	Global developmental delay	6928	HNF1B	ORPHA:93111
HP:0001263	Global developmental delay	51095	TRNT1	OMIM:616084
HP:0001263	Global developmental delay	55526	DHTKD1	OMIM:204750
HP:0001263	Global developmental delay	4983	OPHN1	ORPHA:137831
HP:0001263	Global developmental delay	4983	OPHN1	OMIM:300486
HP:0001263	Global developmental delay	51091	SEPSECS	OMIM:613811
HP:0001263	Global developmental delay	1528	CYB5A	ORPHA:621
HP:0001263	Global developmental delay	1727	CYB5R3	ORPHA:621
HP:0001263	Global developmental delay	1727	CYB5R3	OMIM:250800
HP:0001263	Global developmental delay	2132	EXT2	ORPHA:52022
HP:0001263	Global developmental delay	2132	EXT2	ORPHA:466926
HP:0001263	Global developmental delay	2132	EXT2	OMIM:616682
HP:0001263	Global developmental delay	23405	DICER1	OMIM:618272
HP:0001263	Global developmental delay	113189	CHST14	OMIM:601776
HP:0001263	Global developmental delay	22978	NT5C2	ORPHA:320396
HP:0001263	Global developmental delay	22978	NT5C2	OMIM:613162
HP:0001263	Global developmental delay	2571	GAD1	OMIM:619124
HP:0001263	Global developmental delay	90522	YIF1B	OMIM:619125
HP:0001263	Global developmental delay	374354	NHLRC2	OMIM:618278
HP:0001263	Global developmental delay	6566	SLC16A1	OMIM:616095
HP:0001263	Global developmental delay	22983	MAST1	OMIM:618273
HP:0001263	Global developmental delay	55755	CDK5RAP2	OMIM:604804
HP:0001263	Global developmental delay	55755	CDK5RAP2	ORPHA:2512
HP:0001263	Global developmental delay	90416	CCDC32	OMIM:619123
HP:0001263	Global developmental delay	23287	AGTPBP1	OMIM:618276
HP:0001263	Global developmental delay	23287	AGTPBP1	ORPHA:2254
HP:0001263	Global developmental delay	64093	SMOC1	OMIM:206920
HP:0001263	Global developmental delay	9895	TECPR2	ORPHA:320385
HP:0001263	Global developmental delay	9895	TECPR2	OMIM:615031
HP:0001263	Global developmental delay	55835	CPAP	OMIM:608393
HP:0001263	Global developmental delay	4668	NAGA	OMIM:609241
HP:0001263	Global developmental delay	4668	NAGA	ORPHA:79281
HP:0001263	Global developmental delay	4668	NAGA	ORPHA:79279
HP:0001263	Global developmental delay	9487	PIGL	OMIM:280000
HP:0001263	Global developmental delay	9487	PIGL	ORPHA:247262
HP:0001263	Global developmental delay	23259	DDHD2	ORPHA:320380
HP:0001263	Global developmental delay	23259	DDHD2	OMIM:615033
HP:0001263	Global developmental delay	2581	GALC	ORPHA:206436
HP:0001263	Global developmental delay	5660	PSAP	ORPHA:206436
HP:0001263	Global developmental delay	5660	PSAP	OMIM:249900
HP:0001263	Global developmental delay	1719	DHFR	OMIM:613839
HP:0001263	Global developmental delay	1795	DOCK3	OMIM:618292
HP:0001263	Global developmental delay	79644	SRD5A3	ORPHA:324737
HP:0001263	Global developmental delay	79644	SRD5A3	OMIM:612379
HP:0001263	Global developmental delay	80704	SLC19A3	ORPHA:263410
HP:0001263	Global developmental delay	80704	SLC19A3	OMIM:607483
HP:0001263	Global developmental delay	3735	KARS1	OMIM:619147
HP:0001263	Global developmental delay	3735	KARS1	OMIM:613641
HP:0001263	Global developmental delay	8665	EIF3F	OMIM:618295
HP:0001263	Global developmental delay	9652	SKIC3	ORPHA:84064
HP:0001263	Global developmental delay	6499	SKIC2	ORPHA:84064
HP:0001263	Global developmental delay	9131	AIFM1	OMIM:300816
HP:0001263	Global developmental delay	132001	TAMM41	OMIM:620139
HP:0001263	Global developmental delay	54938	SARS2	OMIM:613845
HP:0001263	Global developmental delay	26275	HIBCH	OMIM:250620
HP:0001263	Global developmental delay	11005	SPINK5	ORPHA:634
HP:0001263	Global developmental delay	11005	SPINK5	OMIM:256500
HP:0001263	Global developmental delay	4594	MMUT	ORPHA:289916
HP:0001263	Global developmental delay	4594	MMUT	OMIM:251000
HP:0001263	Global developmental delay	4594	MMUT	ORPHA:79312
HP:0001263	Global developmental delay	199857	ALG14	OMIM:619031
HP:0001263	Global developmental delay	25970	SH2B1	ORPHA:261222
HP:0001263	Global developmental delay	25970	SH2B1	ORPHA:261197
HP:0001263	Global developmental delay	91574	MTRFR	ORPHA:254930
HP:0001263	Global developmental delay	91574	MTRFR	OMIM:615035
HP:0001263	Global developmental delay	91574	MTRFR	OMIM:613559
HP:0001263	Global developmental delay	10262	SF3B4	OMIM:154400
HP:0001263	Global developmental delay	10491	CRTAP	ORPHA:2050
HP:0001263	Global developmental delay	9871	SEC24D	ORPHA:2050
HP:0001263	Global developmental delay	9871	SEC24D	OMIM:616294
HP:0001263	Global developmental delay	375	ARF1	OMIM:618185
HP:0001263	Global developmental delay	23019	CNOT1	OMIM:619033
HP:0001263	Global developmental delay	23019	CNOT1	OMIM:618500
HP:0001263	Global developmental delay	83700	JAM3	OMIM:613730
HP:0001263	Global developmental delay	5894	RAF1	OMIM:611553
HP:0001263	Global developmental delay	5894	RAF1	ORPHA:500
HP:0001263	Global developmental delay	95	ACY1	ORPHA:137754
HP:0001263	Global developmental delay	95	ACY1	OMIM:609924
HP:0001263	Global developmental delay	145173	B3GLCT	ORPHA:709
HP:0001263	Global developmental delay	145173	B3GLCT	OMIM:261540
HP:0001263	Global developmental delay	7109	TRAPPC10	OMIM:620027
HP:0001263	Global developmental delay	7109	TRAPPC10	ORPHA:2512
HP:0001263	Global developmental delay	55325	UFSP2	OMIM:620028
HP:0001263	Global developmental delay	10274	STAG1	ORPHA:502434
HP:0001263	Global developmental delay	10274	STAG1	OMIM:617635
HP:0001263	Global developmental delay	4774	NFIA	OMIM:613735
HP:0001263	Global developmental delay	4774	NFIA	ORPHA:401986
HP:0001263	Global developmental delay	8496	PPFIBP1	OMIM:620024
HP:0001263	Global developmental delay	5111	PCNA	OMIM:615919
HP:0001263	Global developmental delay	5111	PCNA	ORPHA:438134
HP:0001263	Global developmental delay	118987	PDZD8	OMIM:620021
HP:0001263	Global developmental delay	4758	NEU1	ORPHA:93399
HP:0001263	Global developmental delay	4758	NEU1	ORPHA:93400
HP:0001263	Global developmental delay	57176	VARS2	OMIM:615917
HP:0001263	Global developmental delay	80222	TARS2	OMIM:615918
HP:0001263	Global developmental delay	501	ALDH7A1	OMIM:266100
HP:0001263	Global developmental delay	6531	SLC6A3	ORPHA:238455
HP:0001263	Global developmental delay	6531	SLC6A3	OMIM:613135
HP:0001263	Global developmental delay	4281	MID1	OMIM:300000
HP:0001263	Global developmental delay	162	AP1B1	OMIM:242150
HP:0001263	Global developmental delay	3141	HLCS	OMIM:253270
HP:0001263	Global developmental delay	55163	PNPO	ORPHA:79096
HP:0001263	Global developmental delay	55163	PNPO	OMIM:610090
HP:0001263	Global developmental delay	5689	PSMB1	OMIM:620038
HP:0001263	Global developmental delay	23431	AP4E1	OMIM:613744
HP:0001263	Global developmental delay	23431	AP4E1	ORPHA:280763
HP:0001263	Global developmental delay	25782	RAB3GAP2	OMIM:212720
HP:0001263	Global developmental delay	25782	RAB3GAP2	OMIM:614225
HP:0001263	Global developmental delay	25782	RAB3GAP2	ORPHA:401830
HP:0001263	Global developmental delay	25782	RAB3GAP2	ORPHA:2510
HP:0001263	Global developmental delay	10472	ZBTB18	ORPHA:36367
HP:0001263	Global developmental delay	10472	ZBTB18	OMIM:612337
HP:0001263	Global developmental delay	63908	NAPB	OMIM:620033
HP:0001263	Global developmental delay	28958	COA3	OMIM:619058
HP:0001263	Global developmental delay	1351	COX8A	OMIM:619059
HP:0001263	Global developmental delay	9739	SETD1A	OMIM:619056
HP:0001263	Global developmental delay	9739	SETD1A	OMIM:618832
HP:0001263	Global developmental delay	191	AHCY	OMIM:613752
HP:0001263	Global developmental delay	191	AHCY	ORPHA:88618
HP:0001263	Global developmental delay	340024	SLC6A19	OMIM:234500
HP:0001263	Global developmental delay	340024	SLC6A19	ORPHA:2116
HP:0001263	Global developmental delay	686	BTD	OMIM:253260
HP:0001263	Global developmental delay	686	BTD	ORPHA:79241
HP:0001263	Global developmental delay	6575	SLC20A2	OMIM:213600
HP:0001263	Global developmental delay	5159	PDGFRB	OMIM:213600
HP:0001263	Global developmental delay	5159	PDGFRB	OMIM:601812
HP:0001263	Global developmental delay	5155	PDGFB	OMIM:213600
HP:0001263	Global developmental delay	10015	PDCD6IP	OMIM:620047
HP:0001263	Global developmental delay	894	CCND2	OMIM:615938
HP:0001263	Global developmental delay	8289	ARID1A	OMIM:614607
HP:0001263	Global developmental delay	7840	ALMS1	OMIM:203800
HP:0001263	Global developmental delay	5428	POLG	ORPHA:726
HP:0001263	Global developmental delay	5428	POLG	OMIM:203700
HP:0001263	Global developmental delay	5428	POLG	OMIM:613662
HP:0001263	Global developmental delay	7080	NKX2-1	ORPHA:209905
HP:0001263	Global developmental delay	7080	NKX2-1	OMIM:610978
HP:0001263	Global developmental delay	7080	NKX2-1	ORPHA:95713
HP:0001263	Global developmental delay	6598	SMARCB1	OMIM:614608
HP:0001263	Global developmental delay	6597	SMARCA4	OMIM:614609
HP:0001263	Global developmental delay	79087	ALG12	OMIM:607143
HP:0001263	Global developmental delay	259232	NALCN	ORPHA:562528
HP:0001263	Global developmental delay	259232	NALCN	OMIM:615419
HP:0001263	Global developmental delay	259232	NALCN	OMIM:616266
HP:0001263	Global developmental delay	259232	NALCN	ORPHA:371364
HP:0001263	Global developmental delay	22	ABCB7	OMIM:301310
HP:0001263	Global developmental delay	4212	MEIS2	OMIM:600987
HP:0001263	Global developmental delay	4212	MEIS2	ORPHA:261190
HP:0001263	Global developmental delay	26053	AUTS2	ORPHA:352490
HP:0001263	Global developmental delay	26053	AUTS2	OMIM:615834
HP:0001263	Global developmental delay	79813	EHMT1	OMIM:610253
HP:0001263	Global developmental delay	79813	EHMT1	ORPHA:261652
HP:0001263	Global developmental delay	79813	EHMT1	ORPHA:96147
HP:0001263	Global developmental delay	10352	WARS2	ORPHA:572798
HP:0001263	Global developmental delay	10352	WARS2	OMIM:617710
HP:0001263	Global developmental delay	5144	PDE4D	OMIM:614613
HP:0001263	Global developmental delay	124512	METTL23	OMIM:615942
HP:0001263	Global developmental delay	26005	C2CD3	OMIM:615948
HP:0001263	Global developmental delay	26005	C2CD3	ORPHA:434179
HP:0001263	Global developmental delay	9152	SLC6A5	OMIM:614618
HP:0001263	Global developmental delay	5230	PGK1	ORPHA:713
HP:0001263	Global developmental delay	5230	PGK1	OMIM:300653
HP:0001263	Global developmental delay	3265	HRAS	OMIM:218040
HP:0001263	Global developmental delay	1174	AP1S1	OMIM:609313
HP:0001263	Global developmental delay	23265	EXOC7	OMIM:619072
HP:0001263	Global developmental delay	1802	DPH2	OMIM:620062
HP:0001263	Global developmental delay	1802	DPH2	ORPHA:459061
HP:0001263	Global developmental delay	2615	LRRC32	OMIM:619074
HP:0001263	Global developmental delay	4953	ODC1	OMIM:619075
HP:0001263	Global developmental delay	4953	ODC1	ORPHA:544488
HP:0001263	Global developmental delay	5091	PC	OMIM:266150
HP:0001263	Global developmental delay	6660	SOX5	OMIM:616803
HP:0001263	Global developmental delay	81031	SLC2A10	ORPHA:3342
HP:0001263	Global developmental delay	9719	ADAMTSL2	OMIM:231050
HP:0001263	Global developmental delay	22859	ADGRL1	OMIM:620065
HP:0001263	Global developmental delay	83475	DOHH	OMIM:620066
HP:0001263	Global developmental delay	6609	SMPD1	OMIM:257200
HP:0001263	Global developmental delay	84992	PIGY	OMIM:616809
HP:0001263	Global developmental delay	84992	PIGY	ORPHA:247262
HP:0001263	Global developmental delay	6558	SLC12A2	OMIM:619083
HP:0001263	Global developmental delay	6558	SLC12A2	OMIM:619081
HP:0001263	Global developmental delay	10236	HNRNPR	OMIM:620073
HP:0001263	Global developmental delay	51611	DPH5	OMIM:620070
HP:0001263	Global developmental delay	58508	KMT2C	ORPHA:261652
HP:0001263	Global developmental delay	58508	KMT2C	OMIM:617768
HP:0001263	Global developmental delay	4089	SMAD4	OMIM:139210
HP:0001263	Global developmental delay	4089	SMAD4	ORPHA:2588
HP:0001263	Global developmental delay	255928	SYT14	ORPHA:284271
HP:0001263	Global developmental delay	255928	SYT14	OMIM:614229
HP:0001263	Global developmental delay	25828	TXN2	OMIM:616811
HP:0001263	Global developmental delay	7443	VRK1	OMIM:607596
HP:0001263	Global developmental delay	7443	VRK1	ORPHA:2254
HP:0001263	Global developmental delay	51244	CCDC174	OMIM:616816
HP:0001263	Global developmental delay	54862	CC2D1A	OMIM:608443
HP:0001263	Global developmental delay	3187	HNRNPH1	OMIM:620083
HP:0001263	Global developmental delay	4920	ROR2	OMIM:268310
HP:0001263	Global developmental delay	11152	WDR45	OMIM:300894
HP:0001263	Global developmental delay	11152	WDR45	ORPHA:329284
HP:0001263	Global developmental delay	4677	NARS1	OMIM:619091
HP:0001263	Global developmental delay	4677	NARS1	OMIM:619092
HP:0001263	Global developmental delay	9080	CLDN9	OMIM:619093
HP:0001263	Global developmental delay	7355	SLC35A2	OMIM:300896
HP:0001263	Global developmental delay	7355	SLC35A2	ORPHA:356961
HP:0001263	Global developmental delay	9968	MED12	OMIM:300895
HP:0001263	Global developmental delay	9968	MED12	ORPHA:93932
HP:0001263	Global developmental delay	9968	MED12	OMIM:305450
HP:0001263	Global developmental delay	9147	NEMF	OMIM:619099
HP:0001263	Global developmental delay	4088	SMAD3	OMIM:613795
HP:0001263	Global developmental delay	8195	MKKS	ORPHA:2473
HP:0001263	Global developmental delay	147007	TMEM199	OMIM:616829
HP:0001263	Global developmental delay	84317	CCDC115	OMIM:616828
HP:0001263	Global developmental delay	5073	PARN	ORPHA:3322
HP:0001263	Global developmental delay	5073	PARN	OMIM:616353
HP:0001263	Global developmental delay	5073	PARN	ORPHA:1775
HP:0001263	Global developmental delay	7015	TERT	ORPHA:3322
HP:0001263	Global developmental delay	7015	TERT	OMIM:613989
HP:0001263	Global developmental delay	7015	TERT	ORPHA:1775
HP:0001263	Global developmental delay	26277	TINF2	ORPHA:3322
HP:0001263	Global developmental delay	26277	TINF2	OMIM:268130
HP:0001263	Global developmental delay	26277	TINF2	ORPHA:1775
HP:0001263	Global developmental delay	1736	DKC1	ORPHA:3322
HP:0001263	Global developmental delay	1736	DKC1	OMIM:305000
HP:0001263	Global developmental delay	1736	DKC1	ORPHA:1775
HP:0001263	Global developmental delay	92154	MTSS2	OMIM:620086
HP:0001263	Global developmental delay	84978	FRMD5	OMIM:620094
HP:0001263	Global developmental delay	10159	ATP6AP2	OMIM:300423
HP:0001263	Global developmental delay	9775	EIF4A3	OMIM:268305
HP:0001263	Global developmental delay	113612	CYP2U1	ORPHA:320411
HP:0001263	Global developmental delay	583	BBS2	OMIM:615981
HP:0001263	Global developmental delay	2703	GJA8	OMIM:612474
HP:0001263	Global developmental delay	2702	GJA5	OMIM:612474
HP:0001263	Global developmental delay	57017	COQ9	OMIM:614654
HP:0001263	Global developmental delay	51025	PAM16	OMIM:613320
HP:0001263	Global developmental delay	55690	PACS1	ORPHA:329224
HP:0001263	Global developmental delay	55690	PACS1	OMIM:615009
HP:0001263	Global developmental delay	10664	CTCF	OMIM:615502
HP:0001263	Global developmental delay	6307	MSMO1	OMIM:616834
HP:0001263	Global developmental delay	27241	BBS9	OMIM:615986
HP:0001263	Global developmental delay	79738	BBS10	OMIM:615987
HP:0001263	Global developmental delay	1828	DSG1	OMIM:615508
HP:0001263	Global developmental delay	90417	KNSTRN	OMIM:613328
HP:0001263	Global developmental delay	90417	KNSTRN	ORPHA:221139
HP:0001263	Global developmental delay	5293	PIK3CD	OMIM:613328
HP:0001263	Global developmental delay	5293	PIK3CD	ORPHA:221139
HP:0001263	Global developmental delay	3720	JARID2	OMIM:620098
HP:0001263	Global developmental delay	865	CBFB	OMIM:620099
HP:0001263	Global developmental delay	1738	DLD	OMIM:246900
HP:0001263	Global developmental delay	9780	PIEZO1	OMIM:616843
HP:0001263	Global developmental delay	7167	TPI1	OMIM:615512
HP:0001263	Global developmental delay	11020	IFT27	OMIM:615996
HP:0001263	Global developmental delay	29926	GMPPA	OMIM:615510
HP:0001263	Global developmental delay	54585	LZTFL1	OMIM:615994
HP:0001263	Global developmental delay	85358	SHANK3	OMIM:606232
HP:0001263	Global developmental delay	6712	SPTBN2	ORPHA:352403
HP:0001263	Global developmental delay	6712	SPTBN2	OMIM:615386
HP:0001263	Global developmental delay	6712	SPTBN2	OMIM:600224
HP:0001263	Global developmental delay	113179	ADAT3	ORPHA:363528
HP:0001263	Global developmental delay	549	AUH	ORPHA:67046
HP:0001263	Global developmental delay	549	AUH	OMIM:250950
HP:0001263	Global developmental delay	3313	HSPA9	OMIM:616854
HP:0001263	Global developmental delay	22880	MORC2	ORPHA:466768
HP:0001263	Global developmental delay	22880	MORC2	OMIM:616688
HP:0001263	Global developmental delay	55784	MCTP2	ORPHA:1596
HP:0001263	Global developmental delay	56997	COQ8A	OMIM:612016
HP:0001263	Global developmental delay	51010	EXOSC3	OMIM:614678
HP:0001263	Global developmental delay	51010	EXOSC3	ORPHA:2254
HP:0001263	Global developmental delay	6301	SARS1	OMIM:617709
HP:0001263	Global developmental delay	6301	SARS1	ORPHA:2512
HP:0001263	Global developmental delay	26224	FBXL3	OMIM:606220
HP:0001263	Global developmental delay	10265	IRX5	OMIM:611174
HP:0001263	Global developmental delay	11253	MAN1B1	OMIM:614202
HP:0001263	Global developmental delay	11253	MAN1B1	ORPHA:397941
HP:0001263	Global developmental delay	7874	USP7	OMIM:616863
HP:0001263	Global developmental delay	7874	USP7	ORPHA:500055
HP:0001263	Global developmental delay	27315	PGAP2	OMIM:614207
HP:0001263	Global developmental delay	27315	PGAP2	ORPHA:247262
HP:0001263	Global developmental delay	51008	ASCC1	OMIM:616867
HP:0001263	Global developmental delay	9325	TRIP4	OMIM:616866
HP:0001263	Global developmental delay	1105	CHD1	ORPHA:529965
HP:0001263	Global developmental delay	1105	CHD1	OMIM:617682
HP:0001263	Global developmental delay	84342	COG8	OMIM:611182
HP:0001263	Global developmental delay	80185	TTI2	OMIM:615541
HP:0001263	Global developmental delay	80185	TTI2	ORPHA:391307
HP:0001263	Global developmental delay	3758	KCNJ1	OMIM:241200
HP:0001263	Global developmental delay	547	KIF1A	OMIM:614213
HP:0001263	Global developmental delay	547	KIF1A	OMIM:614255
HP:0001263	Global developmental delay	23065	EMC1	OMIM:616875
HP:0001263	Global developmental delay	23065	EMC1	ORPHA:480898
HP:0001263	Global developmental delay	128989	TANGO2	OMIM:616878
HP:0001263	Global developmental delay	128989	TANGO2	ORPHA:480864
HP:0001263	Global developmental delay	79633	FAT4	OMIM:615546
HP:0001263	Global developmental delay	79633	FAT4	ORPHA:314679
HP:0001263	Global developmental delay	55644	OSGEP	OMIM:617729
HP:0001263	Global developmental delay	55644	OSGEP	ORPHA:2065
HP:0001263	Global developmental delay	57572	DOCK6	OMIM:614219
HP:0001263	Global developmental delay	4644	MYO5A	ORPHA:79476
HP:0001263	Global developmental delay	4644	MYO5A	ORPHA:33445
HP:0001263	Global developmental delay	4644	MYO5A	OMIM:214450
HP:0001263	Global developmental delay	7074	TIAM1	OMIM:619908
HP:0001263	Global developmental delay	59336	PRDM13	OMIM:619909
HP:0001263	Global developmental delay	59336	PRDM13	OMIM:619761
HP:0001263	Global developmental delay	2464	FRA16E	OMIM:136570
HP:0001263	Global developmental delay	112858	TP53RK	OMIM:617730
HP:0001263	Global developmental delay	112858	TP53RK	ORPHA:2065
HP:0001263	Global developmental delay	51501	HIKESHI	OMIM:616881
HP:0001263	Global developmental delay	163786	SASS6	OMIM:616402
HP:0001263	Global developmental delay	163786	SASS6	ORPHA:2512
HP:0001263	Global developmental delay	22931	RAB18	OMIM:614222
HP:0001263	Global developmental delay	22931	RAB18	ORPHA:2510
HP:0001263	Global developmental delay	23443	SLC35A3	OMIM:615553
HP:0001263	Global developmental delay	51002	TPRKB	OMIM:617731
HP:0001263	Global developmental delay	51002	TPRKB	ORPHA:2065
HP:0001263	Global developmental delay	1778	DYNC1H1	OMIM:614228
HP:0001263	Global developmental delay	1778	DYNC1H1	OMIM:158600
HP:0001263	Global developmental delay	1778	DYNC1H1	OMIM:614563
HP:0001263	Global developmental delay	490	ATP2B1	OMIM:619910
HP:0001263	Global developmental delay	4929	NR4A2	OMIM:619911
HP:0001263	Global developmental delay	4929	NR4A2	ORPHA:1617
HP:0001263	Global developmental delay	4796	TONSL	ORPHA:93357
HP:0001263	Global developmental delay	6925	TCF4	ORPHA:2896
HP:0001263	Global developmental delay	26047	CNTNAP2	ORPHA:163681
HP:0001263	Global developmental delay	26047	CNTNAP2	OMIM:610042
HP:0001263	Global developmental delay	80055	PGAP1	ORPHA:401820
HP:0001263	Global developmental delay	80055	PGAP1	OMIM:615802
HP:0001263	Global developmental delay	51124	IER3IP1	OMIM:614231
HP:0001263	Global developmental delay	7204	TRIO	ORPHA:476126
HP:0001263	Global developmental delay	7204	TRIO	OMIM:618825
HP:0001263	Global developmental delay	83737	ITCH	OMIM:613385
HP:0001263	Global developmental delay	83737	ITCH	ORPHA:228426
HP:0001263	Global developmental delay	2890	GRIA1	OMIM:619927
HP:0001263	Global developmental delay	54805	CNNM2	OMIM:616418
HP:0001263	Global developmental delay	55164	SHQ1	OMIM:619921
HP:0001263	Global developmental delay	55164	SHQ1	OMIM:619922
HP:0001263	Global developmental delay	7291	TWIST1	OMIM:617746
HP:0001263	Global developmental delay	5495	PPM1B	ORPHA:163693
HP:0001263	Global developmental delay	6519	SLC3A1	ORPHA:163693
HP:0001263	Global developmental delay	9581	PREPL	ORPHA:163693
HP:0001263	Global developmental delay	79823	CAMKMT	ORPHA:163693
HP:0001263	Global developmental delay	3423	IDS	ORPHA:217093
HP:0001263	Global developmental delay	3423	IDS	ORPHA:217085
HP:0001263	Global developmental delay	29929	ALG6	OMIM:603147
HP:0001263	Global developmental delay	10717	AP4B1	ORPHA:280763
HP:0001263	Global developmental delay	10717	AP4B1	OMIM:614066
HP:0001263	Global developmental delay	11154	AP4S1	ORPHA:280763
HP:0001263	Global developmental delay	11154	AP4S1	OMIM:614067
HP:0001263	Global developmental delay	9320	TRIP12	OMIM:617752
HP:0001263	Global developmental delay	29920	PYCR2	OMIM:616420
HP:0001263	Global developmental delay	29920	PYCR2	ORPHA:2512
HP:0001263	Global developmental delay	440	ASNS	OMIM:615574
HP:0001263	Global developmental delay	5538	PPT1	OMIM:256730
HP:0001263	Global developmental delay	1663	DDX11	OMIM:613398
HP:0001263	Global developmental delay	5455	POU3F3	OMIM:618604
HP:0001263	Global developmental delay	2186	BPTF	OMIM:617755
HP:0001263	Global developmental delay	51684	SUFU	OMIM:617757
HP:0001263	Global developmental delay	51684	SUFU	ORPHA:475
HP:0001263	Global developmental delay	9439	MED23	OMIM:614249
HP:0001263	Global developmental delay	9757	KMT2B	OMIM:619934
HP:0001263	Global developmental delay	9757	KMT2B	OMIM:617284
HP:0001263	Global developmental delay	57410	SCYL1	ORPHA:466794
HP:0001263	Global developmental delay	51663	ZFR	ORPHA:401840
HP:0001263	Global developmental delay	23404	EXOSC2	OMIM:617763
HP:0001263	Global developmental delay	92935	MARS2	OMIM:616430
HP:0001263	Global developmental delay	22827	PUF60	OMIM:615583
HP:0001263	Global developmental delay	22827	PUF60	ORPHA:508488
HP:0001263	Global developmental delay	10464	PIBF1	OMIM:617767
HP:0001263	Global developmental delay	10464	PIBF1	ORPHA:475
HP:0001263	Global developmental delay	2036	EPB41L1	OMIM:614257
HP:0001263	Global developmental delay	26235	FBXL4	OMIM:615471
HP:0001263	Global developmental delay	776	CACNA1D	OMIM:615474
HP:0001263	Global developmental delay	776	CACNA1D	ORPHA:369929
HP:0001263	Global developmental delay	1763	DNA2	OMIM:620819
HP:0001263	Global developmental delay	1763	DNA2	OMIM:615807
HP:0001263	Global developmental delay	5994	RFXAP	OMIM:620817
HP:0001263	Global developmental delay	23135	KDM6B	OMIM:618505
HP:0001263	Global developmental delay	6659	SOX4	OMIM:618506
HP:0001263	Global developmental delay	55823	VPS11	ORPHA:466934
HP:0001263	Global developmental delay	55823	VPS11	OMIM:616683
HP:0001263	Global developmental delay	4897	NRCAM	OMIM:619833
HP:0001263	Global developmental delay	84334	COA8	ORPHA:436271
HP:0001263	Global developmental delay	81570	CLPB	OMIM:619835
HP:0001263	Global developmental delay	81570	CLPB	OMIM:619813
HP:0001263	Global developmental delay	81570	CLPB	OMIM:616271
HP:0001263	Global developmental delay	5927	KDM5A	OMIM:620820
HP:0001263	Global developmental delay	91801	ALKBH8	OMIM:618504
HP:0001263	Global developmental delay	5457	POU4F1	ORPHA:314647
HP:0001263	Global developmental delay	5457	POU4F1	OMIM:619352
HP:0001263	Global developmental delay	51	ACOX1	ORPHA:2971
HP:0001263	Global developmental delay	4552	MTRR	OMIM:236270
HP:0001263	Global developmental delay	4552	MTRR	ORPHA:2169
HP:0001263	Global developmental delay	23498	HAAO	OMIM:617660
HP:0001263	Global developmental delay	9578	CDC42BPB	OMIM:619841
HP:0001263	Global developmental delay	65993	MRPS34	OMIM:617664
HP:0001263	Global developmental delay	80816	ASXL3	OMIM:615485
HP:0001263	Global developmental delay	80816	ASXL3	ORPHA:352577
HP:0001263	Global developmental delay	6616	SNAP25	OMIM:616330
HP:0001263	Global developmental delay	387787	LIPT2	OMIM:617668
HP:0001263	Global developmental delay	1841	DTYMK	OMIM:619847
HP:0001263	Global developmental delay	8239	USP9X	OMIM:300919
HP:0001263	Global developmental delay	8239	USP9X	OMIM:300968
HP:0001263	Global developmental delay	8239	USP9X	ORPHA:480880
HP:0001263	Global developmental delay	27229	TUBGCP4	OMIM:616335
HP:0001263	Global developmental delay	55904	KMT2E	OMIM:618512
HP:0001263	Global developmental delay	3149	HMGB3	OMIM:300915
HP:0001263	Global developmental delay	318	NUDT2	OMIM:619844
HP:0001263	Global developmental delay	24142	NAA80	OMIM:620830
HP:0001263	Global developmental delay	57082	KNL1	OMIM:604321
HP:0001263	Global developmental delay	57082	KNL1	ORPHA:2512
HP:0001263	Global developmental delay	55636	CHD7	ORPHA:138
HP:0001263	Global developmental delay	55636	CHD7	OMIM:214800
HP:0001263	Global developmental delay	9723	SEMA3E	ORPHA:138
HP:0001263	Global developmental delay	55650	PIGV	OMIM:239300
HP:0001263	Global developmental delay	55650	PIGV	ORPHA:247262
HP:0001263	Global developmental delay	284403	WDR62	OMIM:604317
HP:0001263	Global developmental delay	284403	WDR62	ORPHA:2512
HP:0001263	Global developmental delay	288	ANK3	OMIM:615493
HP:0001263	Global developmental delay	23250	ATP11A	OMIM:619851
HP:0001263	Global developmental delay	818	CAMK2G	OMIM:618522
HP:0001263	Global developmental delay	5105	PCK1	OMIM:261680
HP:0001263	Global developmental delay	1020	CDK5	OMIM:616342
HP:0001263	Global developmental delay	7343	UBTF	OMIM:617672
HP:0001263	Global developmental delay	7343	UBTF	ORPHA:500180
HP:0001263	Global developmental delay	64359	NXN	OMIM:618529
HP:0001263	Global developmental delay	7994	KAT6A	ORPHA:457193
HP:0001263	Global developmental delay	7994	KAT6A	OMIM:616268
HP:0001263	Global developmental delay	2770	GNAI1	OMIM:619854
HP:0001263	Global developmental delay	79140	CCDC28B	OMIM:209900
HP:0001263	Global developmental delay	582	BBS1	OMIM:209900
HP:0001263	Global developmental delay	10087	CERT1	OMIM:616351
HP:0001263	Global developmental delay	1193	CLIC2	ORPHA:324410
HP:0001263	Global developmental delay	26258	BLOC1S6	OMIM:614171
HP:0001263	Global developmental delay	5528	PPP2R5D	OMIM:616355
HP:0001263	Global developmental delay	5528	PPP2R5D	ORPHA:457279
HP:0001263	Global developmental delay	57231	SNX14	OMIM:616354
HP:0001263	Global developmental delay	23327	NEDD4L	OMIM:617201
HP:0001263	Global developmental delay	11193	WBP4	OMIM:620852
HP:0001263	Global developmental delay	6905	TBCE	OMIM:617207
HP:0001263	Global developmental delay	6905	TBCE	ORPHA:496756
HP:0001263	Global developmental delay	10716	TBR1	ORPHA:1617
HP:0001263	Global developmental delay	10716	TBR1	OMIM:606053
HP:0001263	Global developmental delay	26834	RNU4-2	OMIM:620851
HP:0001263	Global developmental delay	788	SLC25A20	ORPHA:159
HP:0001263	Global developmental delay	5518	PPP2R1A	OMIM:616362
HP:0001263	Global developmental delay	5518	PPP2R1A	ORPHA:457284
HP:0001263	Global developmental delay	23126	POGZ	OMIM:616364
HP:0001263	Global developmental delay	23126	POGZ	ORPHA:468678
HP:0001263	Global developmental delay	55773	TBC1D23	OMIM:617695
HP:0001263	Global developmental delay	57680	CHD8	OMIM:615032
HP:0001263	Global developmental delay	8558	CDK10	OMIM:617694
HP:0001263	Global developmental delay	92609	TIMM50	OMIM:617698
HP:0001263	Global developmental delay	51692	CPSF3	OMIM:619876
HP:0001263	Global developmental delay	3098	HK1	OMIM:618547
HP:0001263	Global developmental delay	5590	PRKCZ	ORPHA:1606
HP:0001263	Global developmental delay	2563	GABRD	ORPHA:1606
HP:0001263	Global developmental delay	23013	SPEN	ORPHA:1606
HP:0001263	Global developmental delay	23013	SPEN	OMIM:619312
HP:0001263	Global developmental delay	8510	MMP23B	ORPHA:1606
HP:0001263	Global developmental delay	7798	LUZP1	ORPHA:1606
HP:0001263	Global developmental delay	6497	SKI	ORPHA:1606
HP:0001263	Global developmental delay	6497	SKI	OMIM:182212
HP:0001263	Global developmental delay	10630	PDPN	ORPHA:1606
HP:0001263	Global developmental delay	3339	HSPG2	ORPHA:1606
HP:0001263	Global developmental delay	10277	UBE4B	ORPHA:1606
HP:0001263	Global developmental delay	8514	KCNAB2	ORPHA:1606
HP:0001263	Global developmental delay	63976	PRDM16	ORPHA:1606
HP:0001263	Global developmental delay	54897	CASZ1	ORPHA:1606
HP:0001263	Global developmental delay	1859	DYRK1A	ORPHA:464311
HP:0001263	Global developmental delay	1859	DYRK1A	ORPHA:268261
HP:0001263	Global developmental delay	1859	DYRK1A	OMIM:614104
HP:0001263	Global developmental delay	285362	SUMF1	ORPHA:585
HP:0001263	Global developmental delay	285362	SUMF1	OMIM:272200
HP:0001263	Global developmental delay	55210	ATAD3A	ORPHA:496790
HP:0001263	Global developmental delay	55210	ATAD3A	OMIM:617183
HP:0001263	Global developmental delay	55210	ATAD3A	OMIM:618810
HP:0001263	Global developmental delay	9276	COPB2	OMIM:619884
HP:0001263	Global developmental delay	9276	COPB2	ORPHA:2512
HP:0001263	Global developmental delay	4285	MIPEP	OMIM:617228
HP:0001263	Global developmental delay	10531	PITRM1	OMIM:619405
HP:0001263	Global developmental delay	23007	PLCH1	OMIM:619895
HP:0001263	Global developmental delay	3798	KIF5A	OMIM:617235
HP:0001263	Global developmental delay	57679	ALS2	OMIM:205100
HP:0001263	Global developmental delay	57679	ALS2	ORPHA:300605
HP:0001263	Global developmental delay	64919	BCL11B	OMIM:617237
HP:0001263	Global developmental delay	64919	BCL11B	OMIM:618092
HP:0001263	Global developmental delay	2720	GLB1	OMIM:230500
HP:0001263	Global developmental delay	2720	GLB1	ORPHA:79255
HP:0001263	Global developmental delay	29960	MRM2	OMIM:618567
HP:0001263	Global developmental delay	29110	TBK1	OMIM:620880
HP:0001263	Global developmental delay	205327	C2orf69	OMIM:619423
HP:0001263	Global developmental delay	5881	RAC3	OMIM:618577
HP:0001263	Global developmental delay	26173	INTS1	OMIM:618571
HP:0001263	Global developmental delay	55656	INTS8	OMIM:618572
HP:0001263	Global developmental delay	55151	TMEM38B	OMIM:615066
HP:0001263	Global developmental delay	22930	RAB3GAP1	OMIM:619420
HP:0001263	Global developmental delay	22930	RAB3GAP1	ORPHA:2510
HP:0001263	Global developmental delay	7046	TGFBR1	OMIM:609192
HP:0001263	Global developmental delay	3242	HPD	OMIM:276710
HP:0001263	Global developmental delay	165918	RNF168	ORPHA:420741
HP:0001263	Global developmental delay	389827	MYMK	OMIM:254940
HP:0001263	Global developmental delay	9488	PIGB	OMIM:618580
HP:0001263	Global developmental delay	51574	LARP7	OMIM:615071
HP:0001263	Global developmental delay	4558	MT-TF	ORPHA:550
HP:0001263	Global developmental delay	4572	MT-TQ	ORPHA:550
HP:0001263	Global developmental delay	4512	MT-CO1	ORPHA:550
HP:0001263	Global developmental delay	4513	MT-CO2	ORPHA:550
HP:0001263	Global developmental delay	4514	MT-CO3	ORPHA:550
HP:0001263	Global developmental delay	4578	MT-TW	ORPHA:550
HP:0001263	Global developmental delay	4540	MT-ND5	ORPHA:550
HP:0001263	Global developmental delay	4541	MT-ND6	ORPHA:550
HP:0001263	Global developmental delay	4535	MT-ND1	ORPHA:550
HP:0001263	Global developmental delay	4535	MT-ND1	ORPHA:2609
HP:0001263	Global developmental delay	4538	MT-ND4	ORPHA:550
HP:0001263	Global developmental delay	4567	MT-TL1	ORPHA:550
HP:0001263	Global developmental delay	4567	MT-TL1	ORPHA:324525
HP:0001263	Global developmental delay	4574	MT-TS1	ORPHA:550
HP:0001263	Global developmental delay	4574	MT-TS1	OMIM:220110
HP:0001263	Global developmental delay	4575	MT-TS2	ORPHA:550
HP:0001263	Global developmental delay	4564	MT-TH	ORPHA:550
HP:0001263	Global developmental delay	57459	GATAD2B	OMIM:615074
HP:0001263	Global developmental delay	57459	GATAD2B	ORPHA:363686
HP:0001263	Global developmental delay	6134	RPL10	OMIM:300998
HP:0001263	Global developmental delay	84894	LINGO1	OMIM:618103
HP:0001263	Global developmental delay	160418	TMTC3	OMIM:617255
HP:0001263	Global developmental delay	123606	NIPA1	ORPHA:261183
HP:0001263	Global developmental delay	7283	TUBG1	ORPHA:261183
HP:0001263	Global developmental delay	7283	TUBG1	OMIM:615412
HP:0001263	Global developmental delay	81614	NIPA2	ORPHA:261183
HP:0001263	Global developmental delay	8473	OGT	OMIM:300997
HP:0001263	Global developmental delay	10765	KDM5B	OMIM:618109
HP:0001263	Global developmental delay	92335	STRADA	ORPHA:500533
HP:0001263	Global developmental delay	92335	STRADA	OMIM:611087
HP:0001263	Global developmental delay	6418	SET	OMIM:618106
HP:0001263	Global developmental delay	2653	GCSH	OMIM:620423
HP:0001263	Global developmental delay	7707	ZNF148	OMIM:617260
HP:0001263	Global developmental delay	6299	SALL1	OMIM:107480
HP:0001263	Global developmental delay	6809	STX3	OMIM:619446
HP:0001263	Global developmental delay	6809	STX3	ORPHA:2290
HP:0001263	Global developmental delay	57520	HECW2	OMIM:617268
HP:0001263	Global developmental delay	23524	SRRM2	OMIM:620439
HP:0001263	Global developmental delay	114803	MYSM1	OMIM:618116
HP:0001263	Global developmental delay	3417	IDH1	ORPHA:99646
HP:0001263	Global developmental delay	56975	FAM20C	OMIM:259775
HP:0001263	Global developmental delay	55250	ELP2	OMIM:617270
HP:0001263	Global developmental delay	51132	RLIM	OMIM:300978
HP:0001263	Global developmental delay	537	ATP6AP1	OMIM:300972
HP:0001263	Global developmental delay	513	ATP5F1D	OMIM:618120
HP:0001263	Global developmental delay	361	AQP4	OMIM:620448
HP:0001263	Global developmental delay	3376	IARS1	ORPHA:541423
HP:0001263	Global developmental delay	3376	IARS1	OMIM:617093
HP:0001263	Global developmental delay	9675	TTI1	OMIM:620445
HP:0001263	Global developmental delay	1312	COMT	ORPHA:567
HP:0001263	Global developmental delay	221037	JMJD1C	ORPHA:567
HP:0001263	Global developmental delay	2812	GP1BB	ORPHA:567
HP:0001263	Global developmental delay	2812	GP1BB	ORPHA:853
HP:0001263	Global developmental delay	6239	RREB1	ORPHA:567
HP:0001263	Global developmental delay	6899	TBX1	ORPHA:567
HP:0001263	Global developmental delay	6899	TBX1	ORPHA:1727
HP:0001263	Global developmental delay	6899	TBX1	OMIM:188400
HP:0001263	Global developmental delay	7290	HIRA	ORPHA:567
HP:0001263	Global developmental delay	9632	SEC24C	ORPHA:567
HP:0001263	Global developmental delay	7353	UFD1	ORPHA:567
HP:0001263	Global developmental delay	421	ARVCF	ORPHA:567
HP:0001263	Global developmental delay	1009	CDH11	OMIM:211380
HP:0001263	Global developmental delay	1009	CDH11	OMIM:619736
HP:0001263	Global developmental delay	6821	SUOX	OMIM:272300
HP:0001263	Global developmental delay	80311	KLHL15	OMIM:300982
HP:0001263	Global developmental delay	6557	SLC12A1	OMIM:601678
HP:0001263	Global developmental delay	23258	DENND5A	OMIM:617281
HP:0001263	Global developmental delay	3155	HMGCL	OMIM:246450
HP:0001263	Global developmental delay	84892	POMGNT2	OMIM:618135
HP:0001263	Global developmental delay	84892	POMGNT2	ORPHA:899
HP:0001263	Global developmental delay	84892	POMGNT2	OMIM:614830
HP:0001263	Global developmental delay	2009	EML1	OMIM:600348
HP:0001263	Global developmental delay	9758	FRMPD4	OMIM:300983
HP:0001263	Global developmental delay	3188	HNRNPH2	OMIM:300986
HP:0001263	Global developmental delay	9734	HDAC9	OMIM:620457
HP:0001263	Global developmental delay	1974	EIF4A2	OMIM:620455
HP:0001263	Global developmental delay	4548	MTR	OMIM:250940
HP:0001263	Global developmental delay	79736	TEFM	OMIM:620451
HP:0001263	Global developmental delay	84065	TMEM222	OMIM:619470
HP:0001263	Global developmental delay	26160	IFT172	OMIM:619471
HP:0001263	Global developmental delay	11212	PLPBP	OMIM:617290
HP:0001263	Global developmental delay	57498	KIDINS220	OMIM:617296
HP:0001263	Global developmental delay	8812	CCNK	OMIM:618147
HP:0001263	Global developmental delay	10526	IPO8	OMIM:619472
HP:0001263	Global developmental delay	23316	CUX2	OMIM:618141
HP:0001263	Global developmental delay	2892	GRIA3	ORPHA:364028
HP:0001263	Global developmental delay	54539	NDUFB11	OMIM:300952
HP:0001263	Global developmental delay	54539	NDUFB11	ORPHA:2556
HP:0001263	Global developmental delay	54539	NDUFB11	ORPHA:2609
HP:0001263	Global developmental delay	54539	NDUFB11	OMIM:309801
HP:0001263	Global developmental delay	94005	PIGS	OMIM:618143
HP:0001263	Global developmental delay	6711	SPTBN1	OMIM:619475
HP:0001263	Global developmental delay	4762	NEUROG1	OMIM:620469
HP:0001263	Global developmental delay	527	ATP6V0C	OMIM:620465
HP:0001263	Global developmental delay	5781	PTPN11	ORPHA:500
HP:0001263	Global developmental delay	11198	SUPT16H	OMIM:619480
HP:0001263	Global developmental delay	2887	GRB10	ORPHA:96182
HP:0001263	Global developmental delay	10682	EBP	OMIM:300960
HP:0001263	Global developmental delay	10682	EBP	ORPHA:401973
HP:0001263	Global developmental delay	283446	MYO1H	OMIM:619482
HP:0001263	Global developmental delay	6872	TAF1	OMIM:300966
HP:0001263	Global developmental delay	6872	TAF1	ORPHA:480907
HP:0001263	Global developmental delay	374879	ZNF699	OMIM:619488
HP:0001263	Global developmental delay	4841	NONO	OMIM:300967
HP:0001263	Global developmental delay	5058	PAK1	OMIM:618158
HP:0001263	Global developmental delay	23067	SETD1B	OMIM:619000
HP:0001263	Global developmental delay	28952	CCDC22	OMIM:300963
HP:0001263	Global developmental delay	28952	CCDC22	ORPHA:7
HP:0001263	Global developmental delay	9373	PLAA	ORPHA:521426
HP:0001263	Global developmental delay	9373	PLAA	OMIM:617527
HP:0001263	Global developmental delay	2998	GYS2	ORPHA:2089
HP:0001263	Global developmental delay	10681	GNB5	ORPHA:542306
HP:0001263	Global developmental delay	10681	GNB5	OMIM:617173
HP:0001263	Global developmental delay	10681	GNB5	OMIM:617182
HP:0001263	Global developmental delay	3988	LIPA	ORPHA:75233
HP:0001263	Global developmental delay	403	ARL3	OMIM:618161
HP:0001263	Global developmental delay	403	ARL3	ORPHA:475
HP:0001263	Global developmental delay	23387	SIK3	OMIM:618162
HP:0001263	Global developmental delay	80267	EDEM3	OMIM:619493
HP:0001263	Global developmental delay	84231	TRAF7	OMIM:618164
HP:0001263	Global developmental delay	63899	NSUN3	OMIM:619012
HP:0001263	Global developmental delay	7157	TP53	OMIM:618165
HP:0001263	Global developmental delay	2193	FARSA	OMIM:619013
HP:0001263	Global developmental delay	727676	SNORD118	ORPHA:542310
HP:0001263	Global developmental delay	727676	SNORD118	OMIM:614561
HP:0001263	Global developmental delay	26276	VPS33B	OMIM:620009
HP:0001263	Global developmental delay	26276	VPS33B	OMIM:208085
HP:0001263	Global developmental delay	203190	LGI3	OMIM:620007
HP:0001263	Global developmental delay	92344	GORAB	ORPHA:2078
HP:0001263	Global developmental delay	11043	MID2	OMIM:300928
HP:0001263	Global developmental delay	875	CBS	OMIM:236200
HP:0001263	Global developmental delay	3110	MNX1	OMIM:176450
HP:0001263	Global developmental delay	84081	NSRP1	OMIM:620001
HP:0001263	Global developmental delay	5468	PPARG	ORPHA:528
HP:0001263	Global developmental delay	10555	AGPAT2	ORPHA:528
HP:0001263	Global developmental delay	284119	CAVIN1	ORPHA:528
HP:0001263	Global developmental delay	26580	BSCL2	ORPHA:528
HP:0001263	Global developmental delay	2353	FOS	ORPHA:528
HP:0001263	Global developmental delay	857	CAV1	ORPHA:528
HP:0001263	Global developmental delay	5498	PPOX	OMIM:620483
HP:0001263	Global developmental delay	9897	WASHC5	ORPHA:7
HP:0001263	Global developmental delay	9897	WASHC5	OMIM:220210
HP:0001263	Global developmental delay	57020	VPS35L	ORPHA:7
HP:0001263	Global developmental delay	56896	DPYSL5	ORPHA:7
HP:0001263	Global developmental delay	54936	ADPRS	OMIM:618170
HP:0001263	Global developmental delay	3030	HADHA	ORPHA:5
HP:0001263	Global developmental delay	3030	HADHA	OMIM:609015
HP:0001263	Global developmental delay	80217	CFAP43	OMIM:236690
HP:0001263	Global developmental delay	114034	TOE1	ORPHA:284339
HP:0001263	Global developmental delay	114034	TOE1	OMIM:614969
HP:0001263	Global developmental delay	9562	MINPP1	ORPHA:284339
HP:0001263	Global developmental delay	2629	GBA1	OMIM:230900
HP:0001263	Global developmental delay	64432	MRPS25	OMIM:619025
HP:0001263	Global developmental delay	84274	COQ5	OMIM:619028
HP:0001263	Global developmental delay	79693	YRDC	ORPHA:2065
HP:0001263	Global developmental delay	84942	WDR73	ORPHA:2065
HP:0001263	Global developmental delay	84942	WDR73	OMIM:251300
HP:0001263	Global developmental delay	8270	LAGE3	ORPHA:2065
HP:0001263	Global developmental delay	8270	LAGE3	OMIM:301006
HP:0001263	Global developmental delay	55294	FBXW7	OMIM:620012
HP:0001263	Global developmental delay	9898	UBAP2L	OMIM:620494
HP:0001263	Global developmental delay	65055	REEP1	OMIM:620011
HP:0001263	Global developmental delay	2760	GM2A	OMIM:272750
HP:0001263	Global developmental delay	8085	KMT2D	OMIM:147920
HP:0001263	Global developmental delay	6095	RORA	OMIM:618060
HP:0001263	Global developmental delay	8243	SMC1A	OMIM:300590
HP:0001263	Global developmental delay	8243	SMC1A	OMIM:301044
HP:0001263	Global developmental delay	1183	CLCN4	OMIM:300114
HP:0001263	Global developmental delay	1183	CLCN4	ORPHA:485350
HP:0001263	Global developmental delay	5393	EXOSC9	OMIM:618065
HP:0001263	Global developmental delay	5393	EXOSC9	ORPHA:2254
HP:0001263	Global developmental delay	5009	OTC	OMIM:311250
HP:0001263	Global developmental delay	57539	WDR35	OMIM:613610
HP:0001263	Global developmental delay	1278	COL1A2	ORPHA:230851
HP:0001263	Global developmental delay	51506	UFC1	OMIM:618076
HP:0001263	Global developmental delay	6662	SOX9	OMIM:114290
HP:0001263	Global developmental delay	10978	CLP1	OMIM:615803
HP:0001263	Global developmental delay	10978	CLP1	ORPHA:411493
HP:0001263	Global developmental delay	10225	CD96	OMIM:211750
HP:0001263	Global developmental delay	271	AMPD2	OMIM:615809
HP:0001263	Global developmental delay	7175	TPR	OMIM:620393
HP:0001263	Global developmental delay	6197	RPS6KA3	OMIM:303600
HP:0001263	Global developmental delay	93210	PGAP3	ORPHA:247262
HP:0001263	Global developmental delay	93210	PGAP3	OMIM:615716
HP:0001263	Global developmental delay	8913	CACNA1G	OMIM:618087
HP:0001263	Global developmental delay	64207	IRF2BPL	OMIM:618088
HP:0001263	Global developmental delay	80204	FBXO11	OMIM:618089
HP:0001263	Global developmental delay	5119	CHMP1A	OMIM:614961
HP:0001263	Global developmental delay	84876	ORAI1	OMIM:612782
HP:0001263	Global developmental delay	8792	TNFRSF11A	OMIM:612301
HP:0001263	Global developmental delay	5624	PROC	OMIM:612304
HP:0001263	Global developmental delay	5238	PGM3	OMIM:615816
HP:0001263	Global developmental delay	23325	WASHC4	OMIM:615817
HP:0001263	Global developmental delay	51057	WDPCP	OMIM:217085
HP:0001263	Global developmental delay	57531	HACE1	ORPHA:464282
HP:0001263	Global developmental delay	57531	HACE1	OMIM:616756
HP:0001263	Global developmental delay	80856	LNPK	OMIM:618090
HP:0001263	Global developmental delay	55697	VAC14	ORPHA:3472
HP:0001263	Global developmental delay	11232	POLG2	OMIM:610131
HP:0001263	Global developmental delay	1954	MEGF8	OMIM:614976
HP:0001263	Global developmental delay	84300	UQCC2	OMIM:615824
HP:0001263	Global developmental delay	113235	SLC46A1	OMIM:229050
HP:0001263	Global developmental delay	113235	SLC46A1	ORPHA:90045
HP:0001263	Global developmental delay	4036	LRP2	ORPHA:2143
HP:0001263	Global developmental delay	4036	LRP2	OMIM:222448
HP:0001263	Global developmental delay	3425	IDUA	OMIM:607014
HP:0001263	Global developmental delay	3425	IDUA	ORPHA:93473
HP:0001263	Global developmental delay	9907	AP5Z1	OMIM:613647
HP:0001263	Global developmental delay	54496	PRMT7	ORPHA:464288
HP:0001263	Global developmental delay	54496	PRMT7	OMIM:617157
HP:0001263	Global developmental delay	165	AEBP1	ORPHA:536532
HP:0001263	Global developmental delay	6234	RPS28	OMIM:606164
HP:0001263	Global developmental delay	2903	GRIN2A	OMIM:245570
HP:0001263	Global developmental delay	6608	SMO	OMIM:601707
HP:0001263	Global developmental delay	5063	PAK3	OMIM:300558
HP:0001263	Global developmental delay	3418	IDH2	OMIM:613657
HP:0001263	Global developmental delay	90624	LYRM7	OMIM:615838
HP:0001263	Global developmental delay	1650	DDOST	OMIM:614507
HP:0001263	Global developmental delay	10056	FARSB	OMIM:613658
HP:0001263	Global developmental delay	3748	KCNC3	ORPHA:98768
HP:0001263	Global developmental delay	4094	MAF	ORPHA:1272
HP:0001263	Global developmental delay	440138	ALG11	OMIM:613661
HP:0001263	Global developmental delay	440138	ALG11	ORPHA:280071
HP:0001263	Global developmental delay	1910	EDNRB	OMIM:277580
HP:0001263	Global developmental delay	9440	MED17	OMIM:613668
HP:0001263	Global developmental delay	8242	KDM5C	OMIM:300534
HP:0001263	Global developmental delay	55084	SOBP	OMIM:613671
HP:0001263	Global developmental delay	27086	FOXP1	OMIM:613670
HP:0001263	Global developmental delay	57393	CLTRN	ORPHA:2116
HP:0001263	Global developmental delay	55275	VPS53	OMIM:615851
HP:0001263	Global developmental delay	2146	EZH2	OMIM:277590
HP:0001263	Global developmental delay	2146	EZH2	ORPHA:3447
HP:0001263	Global developmental delay	7048	TGFBR2	OMIM:610168
HP:0001263	Global developmental delay	445	ASS1	OMIM:215700
HP:0001263	Global developmental delay	85440	DOCK7	OMIM:615859
HP:0001263	Global developmental delay	7546	ZIC2	OMIM:609637
HP:0001263	Global developmental delay	2033	EP300	OMIM:613684
HP:0001263	Global developmental delay	2033	EP300	OMIM:180849
HP:0001263	Global developmental delay	339453	TMEM240	OMIM:607454
HP:0001263	Global developmental delay	54704	PDP1	OMIM:608782
HP:0001263	Global developmental delay	5979	RET	OMIM:162300
HP:0001263	Global developmental delay	2245	FGD1	OMIM:305400
HP:0001263	Global developmental delay	124997	WDR81	OMIM:610185
HP:0001263	Global developmental delay	64116	SLC39A8	OMIM:616721
HP:0001263	Global developmental delay	79796	ALG9	OMIM:608776
HP:0001263	Global developmental delay	79796	ALG9	ORPHA:79328
HP:0001263	Global developmental delay	23028	KDM1A	OMIM:616728
HP:0001263	Global developmental delay	23028	KDM1A	ORPHA:477993
HP:0001263	Global developmental delay	546	ATRX	OMIM:301040
HP:0001263	Global developmental delay	55593	OTUD5	OMIM:301056
HP:0001263	Global developmental delay	5160	PDHA1	OMIM:312170
HP:0001263	Global developmental delay	10229	COQ7	OMIM:616733
HP:0001263	Global developmental delay	11151	CORO1A	OMIM:615401
HP:0001263	Global developmental delay	83479	DDX59	OMIM:174300
HP:0001263	Global developmental delay	169792	GLIS3	OMIM:610199
HP:0001263	Global developmental delay	998	CDC42	OMIM:616737
HP:0001263	Global developmental delay	998	CDC42	ORPHA:487796
HP:0001263	Global developmental delay	5048	PAFAH1B1	OMIM:607432
HP:0001263	Global developmental delay	5048	PAFAH1B1	ORPHA:217385
HP:0001263	Global developmental delay	3176	HNMT	OMIM:616739
HP:0001263	Global developmental delay	2891	GRIA2	OMIM:618917
HP:0001263	Global developmental delay	4131	MAP1B	OMIM:618918
HP:0001263	Global developmental delay	84679	SLC9A7	OMIM:301024
HP:0001263	Global developmental delay	90161	HS6ST2	OMIM:301025
HP:0001263	Global developmental delay	4694	NDUFA1	OMIM:301020
HP:0001263	Global developmental delay	4694	NDUFA1	ORPHA:2609
HP:0001263	Global developmental delay	27235	COQ2	OMIM:607426
HP:0001263	Global developmental delay	63035	BCORL1	OMIM:301029
HP:0001263	Global developmental delay	3796	KIF2A	OMIM:615411
HP:0001263	Global developmental delay	81620	CDT1	ORPHA:2554
HP:0001263	Global developmental delay	5000	ORC4	ORPHA:2554
HP:0001263	Global developmental delay	23594	ORC6	ORPHA:2554
HP:0001263	Global developmental delay	4998	ORC1	ORPHA:2554
HP:0001263	Global developmental delay	51053	GMNN	ORPHA:2554
HP:0001263	Global developmental delay	1000	CDH2	OMIM:618929
HP:0001263	Global developmental delay	3052	HCCS	ORPHA:2556
HP:0001263	Global developmental delay	3052	HCCS	OMIM:309801
HP:0001263	Global developmental delay	60	ACTB	ORPHA:79107
HP:0001263	Global developmental delay	60	ACTB	OMIM:243310
HP:0001263	Global developmental delay	60	ACTB	ORPHA:2995
HP:0001263	Global developmental delay	51185	CRBN	OMIM:607417
HP:0001263	Global developmental delay	84061	MAGT1	OMIM:301031
HP:0001263	Global developmental delay	10943	MSL3	OMIM:301032
HP:0001263	Global developmental delay	79576	NKAP	OMIM:301039
HP:0001263	Global developmental delay	8985	PLOD3	OMIM:612394
HP:0001263	Global developmental delay	25	ABL1	OMIM:617602
HP:0001263	Global developmental delay	57511	COG6	OMIM:614576
HP:0001263	Global developmental delay	83696	TRAPPC9	ORPHA:352530
HP:0001263	Global developmental delay	83696	TRAPPC9	OMIM:613192
HP:0001263	Global developmental delay	56479	KCNQ5	OMIM:617601
HP:0001263	Global developmental delay	23152	CIC	OMIM:617600
HP:0001263	Global developmental delay	29980	DONSON	OMIM:617604
HP:0001263	Global developmental delay	9997	SCO2	OMIM:604377
HP:0001263	Global developmental delay	538	ATP7A	ORPHA:198
HP:0001263	Global developmental delay	538	ATP7A	OMIM:304150
HP:0001263	Global developmental delay	157680	VPS13B	ORPHA:193
HP:0001263	Global developmental delay	157680	VPS13B	OMIM:216550
HP:0001263	Global developmental delay	11222	MRPL3	OMIM:614582
HP:0001263	Global developmental delay	81689	ISCA1	OMIM:617613
HP:0001263	Global developmental delay	1861	TOR1A	OMIM:618947
HP:0001263	Global developmental delay	79853	TM4SF20	OMIM:615432
HP:0001263	Global developmental delay	64857	PLEKHG2	OMIM:616763
HP:0001263	Global developmental delay	51520	LARS1	OMIM:615438
HP:0001263	Global developmental delay	80232	WDR26	OMIM:617616
HP:0001263	Global developmental delay	4329	ALDH6A1	OMIM:614105
HP:0001263	Global developmental delay	80781	COL18A1	OMIM:267750
HP:0001263	Global developmental delay	63932	STEEP1	OMIM:301013
HP:0001263	Global developmental delay	26503	SLC17A5	OMIM:604369
HP:0001263	Global developmental delay	26503	SLC17A5	OMIM:269920
HP:0001263	Global developmental delay	55617	TASP1	OMIM:618950
HP:0001263	Global developmental delay	6182	MRPL12	OMIM:618951
HP:0001263	Global developmental delay	5162	PDHB	OMIM:614111
HP:0001263	Global developmental delay	114928	GPRASP2	OMIM:301018
HP:0001263	Global developmental delay	60528	ELAC2	OMIM:615440
HP:0001263	Global developmental delay	10293	TRAIP	OMIM:616777
HP:0001263	Global developmental delay	10319	LAMC3	OMIM:614115
HP:0001263	Global developmental delay	80210	ARMC9	OMIM:617622
HP:0001263	Global developmental delay	80210	ARMC9	ORPHA:475
HP:0001263	Global developmental delay	3832	KIF11	ORPHA:2526
HP:0001263	Global developmental delay	4190	MDH1	OMIM:618959
HP:0001263	Global developmental delay	617	BCS1L	OMIM:124000
HP:0001263	Global developmental delay	113246	C12orf57	OMIM:218340
HP:0001263	Global developmental delay	54888	NSUN2	OMIM:611091
HP:0001263	Global developmental delay	7991	TUSC3	OMIM:611093
HP:0001263	Global developmental delay	23247	KATNIP	OMIM:616784
HP:0001263	Global developmental delay	23247	KATNIP	ORPHA:475
HP:0001263	Global developmental delay	6651	SON	ORPHA:500150
HP:0001263	Global developmental delay	6651	SON	OMIM:617140
HP:0001263	Global developmental delay	5879	RAC1	ORPHA:500159
HP:0001263	Global developmental delay	23389	MED13L	OMIM:616789
HP:0001263	Global developmental delay	23389	MED13L	ORPHA:369891
HP:0001263	Global developmental delay	9939	RBM8A	OMIM:274000
HP:0001263	Global developmental delay	128637	TBC1D20	ORPHA:2510
HP:0001263	Global developmental delay	71	ACTG1	ORPHA:2995
HP:0001263	Global developmental delay	11113	CIT	ORPHA:2512
HP:0001263	Global developmental delay	11113	CIT	OMIM:617090
HP:0001263	Global developmental delay	9928	KIF14	ORPHA:2512
HP:0001263	Global developmental delay	22995	CEP152	ORPHA:2512
HP:0001263	Global developmental delay	4176	MCM7	ORPHA:2512
HP:0001263	Global developmental delay	80254	CEP63	ORPHA:2512
HP:0001263	Global developmental delay	29081	METTL5	ORPHA:2512
HP:0001263	Global developmental delay	79023	NUP37	ORPHA:2512
HP:0001263	Global developmental delay	23310	NCAPD3	ORPHA:2512
HP:0001263	Global developmental delay	79648	MCPH1	ORPHA:2512
HP:0001263	Global developmental delay	6491	STIL	ORPHA:2512
HP:0001263	Global developmental delay	6491	STIL	OMIM:612703
HP:0001263	Global developmental delay	23141	ANKLE2	ORPHA:2512
HP:0001263	Global developmental delay	23141	ANKLE2	OMIM:616681
HP:0001263	Global developmental delay	259266	ASPM	ORPHA:2512
HP:0001263	Global developmental delay	7453	WARS1	ORPHA:2512
HP:0001263	Global developmental delay	7453	WARS1	OMIM:620317
HP:0001263	Global developmental delay	1911	PHC1	ORPHA:2512
HP:0001263	Global developmental delay	9662	CEP135	ORPHA:2512
HP:0001263	Global developmental delay	1021	CDK6	ORPHA:2512
HP:0001263	Global developmental delay	9699	RIMS2	OMIM:618970
HP:0001263	Global developmental delay	55553	SOX6	OMIM:618971
HP:0001263	Global developmental delay	1968	EIF2S3	OMIM:300148
HP:0001263	Global developmental delay	8884	SLC5A6	OMIM:618973
HP:0001263	Global developmental delay	5087	PBX1	OMIM:617641
HP:0001263	Global developmental delay	115286	SLC25A26	OMIM:616794
HP:0001263	Global developmental delay	8625	RFXANK	OMIM:620815
HP:0001263	Global developmental delay	55367	PIDD1	OMIM:619827
HP:0001263	Global developmental delay	203068	TUBB	ORPHA:2505
HP:0001263	Global developmental delay	203068	TUBB	OMIM:615771
HP:0001263	Global developmental delay	10982	MAPRE2	ORPHA:2505
HP:0001263	Global developmental delay	84148	KAT8	OMIM:618974
HP:0001263	Global developmental delay	8942	KYNU	ORPHA:79155
HP:0001263	Global developmental delay	10749	KIF1C	ORPHA:397946
HP:0001263	Global developmental delay	8036	SHOC2	OMIM:607721
HP:0001263	Global developmental delay	4716	NDUFB10	ORPHA:2609
HP:0001263	Global developmental delay	284184	NDUFAF8	ORPHA:2609
HP:0001263	Global developmental delay	55863	TMEM126B	ORPHA:2609
HP:0001263	Global developmental delay	4537	MT-ND3	ORPHA:2609
HP:0001263	Global developmental delay	4729	NDUFV2	ORPHA:2609
HP:0001263	Global developmental delay	4726	NDUFS6	ORPHA:2609
HP:0001263	Global developmental delay	4722	NDUFS3	ORPHA:2609
HP:0001263	Global developmental delay	29078	NDUFAF4	ORPHA:2609
HP:0001263	Global developmental delay	374291	NDUFS7	ORPHA:2609
HP:0001263	Global developmental delay	4536	MT-ND2	ORPHA:2609
HP:0001263	Global developmental delay	4715	NDUFB9	ORPHA:2609
HP:0001263	Global developmental delay	4099	MAG	OMIM:616680
HP:0001263	Global developmental delay	4099	MAG	ORPHA:459056
HP:0001263	Global developmental delay	104	ADARB1	OMIM:618862
HP:0001263	Global developmental delay	50651	SLC45A1	OMIM:617532
HP:0001263	Global developmental delay	3145	HMBS	OMIM:620704
HP:0001263	Global developmental delay	2895	GRID2	OMIM:616204
HP:0001263	Global developmental delay	51126	NAA20	OMIM:619717
HP:0001263	Global developmental delay	60684	TRAPPC11	OMIM:615356
HP:0001263	Global developmental delay	60684	TRAPPC11	ORPHA:369847
HP:0001263	Global developmental delay	9231	DLG5	OMIM:620703
HP:0001263	Global developmental delay	10973	ASCC3	OMIM:620700
HP:0001263	Global developmental delay	3008	H1-4	OMIM:617537
HP:0001263	Global developmental delay	79783	SUGCT	ORPHA:35706
HP:0001263	Global developmental delay	5339	PLEC	ORPHA:254361
HP:0001263	Global developmental delay	387119	CEP85L	OMIM:618873
HP:0001263	Global developmental delay	3020	H3-3A	OMIM:619720
HP:0001263	Global developmental delay	3021	H3-3B	OMIM:619721
HP:0001263	Global developmental delay	10300	KATNB1	OMIM:616212
HP:0001263	Global developmental delay	1630	DCC	OMIM:617542
HP:0001263	Global developmental delay	3162	HMOX1	OMIM:614034
HP:0001263	Global developmental delay	1644	DDC	ORPHA:35708
HP:0001263	Global developmental delay	1644	DDC	OMIM:608643
HP:0001263	Global developmental delay	10026	PIGK	OMIM:618879
HP:0001263	Global developmental delay	4056	LTC4S	OMIM:614037
HP:0001263	Global developmental delay	79639	TMEM53	OMIM:619727
HP:0001263	Global developmental delay	375387	NRROS	OMIM:618875
HP:0001263	Global developmental delay	10501	SEMA6B	OMIM:618876
HP:0001263	Global developmental delay	4149	MAX	OMIM:620712
HP:0001263	Global developmental delay	3781	KCNN2	OMIM:619725
HP:0001263	Global developmental delay	6440	SFTPC	OMIM:610913
HP:0001263	Global developmental delay	64175	P3H1	OMIM:610915
HP:0001263	Global developmental delay	2590	GALNT2	OMIM:618885
HP:0001263	Global developmental delay	9698	PUM1	OMIM:620719
HP:0001263	Global developmental delay	9698	PUM1	OMIM:617931
HP:0001263	Global developmental delay	130589	GALM	OMIM:618881
HP:0001263	Global developmental delay	9692	PRORP	OMIM:619737
HP:0001263	Global developmental delay	4853	NOTCH2	OMIM:102500
HP:0001263	Global developmental delay	6773	STAT2	OMIM:618886
HP:0001263	Global developmental delay	51319	RSRC1	OMIM:618402
HP:0001263	Global developmental delay	7920	ABHD16A	OMIM:619735
HP:0001263	Global developmental delay	8560	DEGS1	OMIM:618404
HP:0001263	Global developmental delay	23761	PISD	OMIM:618889
HP:0001263	Global developmental delay	8726	EED	OMIM:617561
HP:0001263	Global developmental delay	10715	CERS1	OMIM:616230
HP:0001263	Global developmental delay	84504	NKX6-2	OMIM:617560
HP:0001263	Global developmental delay	84504	NKX6-2	ORPHA:527497
HP:0001263	Global developmental delay	54968	TMEM70	OMIM:614052
HP:0001263	Global developmental delay	5442	POLRMT	OMIM:619743
HP:0001263	Global developmental delay	39	ACAT2	OMIM:614055
HP:0001263	Global developmental delay	84314	TMEM107	OMIM:617563
HP:0001263	Global developmental delay	84314	TMEM107	OMIM:617562
HP:0001263	Global developmental delay	200734	SPRED2	OMIM:619745
HP:0001263	Global developmental delay	79731	NARS2	OMIM:616239
HP:0001263	Global developmental delay	55361	PI4K2A	OMIM:620732
HP:0001263	Global developmental delay	284439	SLC25A42	OMIM:618416
HP:0001263	Global developmental delay	79600	TCTN1	ORPHA:475
HP:0001263	Global developmental delay	200894	ARL13B	ORPHA:475
HP:0001263	Global developmental delay	200894	ARL13B	OMIM:612291
HP:0001263	Global developmental delay	219844	HYLS1	ORPHA:475
HP:0001263	Global developmental delay	79867	TCTN2	ORPHA:475
HP:0001263	Global developmental delay	79867	TCTN2	OMIM:616654
HP:0001263	Global developmental delay	80776	B9D2	ORPHA:475
HP:0001263	Global developmental delay	25776	CBY1	ORPHA:475
HP:0001263	Global developmental delay	27077	B9D1	ORPHA:475
HP:0001263	Global developmental delay	27077	B9D1	OMIM:617120
HP:0001263	Global developmental delay	1947	EFNB1	OMIM:304110
HP:0001263	Global developmental delay	339983	NAT8L	OMIM:614063
HP:0001263	Global developmental delay	8879	SGPL1	OMIM:617575
HP:0001263	Global developmental delay	51604	PIGT	OMIM:615398
HP:0001263	Global developmental delay	8363	H4C11	OMIM:619759
HP:0001263	Global developmental delay	4613	MYCN	OMIM:620748
HP:0001263	Global developmental delay	7531	YWHAE	ORPHA:217385
HP:0001263	Global developmental delay	57282	SLC4A10	OMIM:620746
HP:0001263	Global developmental delay	9841	ZBTB24	OMIM:614069
HP:0001263	Global developmental delay	9841	ZBTB24	ORPHA:2268
HP:0001263	Global developmental delay	391356	PTRHD1	OMIM:620747
HP:0001263	Global developmental delay	7701	ZNF142	OMIM:618425
HP:0001263	Global developmental delay	8021	NUP214	OMIM:618426
HP:0001263	Global developmental delay	2643	GCH1	OMIM:233910
HP:0001263	Global developmental delay	23474	ETHE1	OMIM:602473
HP:0001263	Global developmental delay	85365	ALG2	ORPHA:79326
HP:0001263	Global developmental delay	8517	IKBKG	ORPHA:464
HP:0001263	Global developmental delay	4247	MGAT2	ORPHA:79329
HP:0001263	Global developmental delay	8314	BAP1	OMIM:619762
HP:0001263	Global developmental delay	79803	HPS6	OMIM:614075
HP:0001263	Global developmental delay	53335	BCL11A	OMIM:617101
HP:0001263	Global developmental delay	9474	ATG5	OMIM:617584
HP:0001263	Global developmental delay	6942	TCF20	OMIM:618430
HP:0001263	Global developmental delay	9158	FIBP	OMIM:617107
HP:0001263	Global developmental delay	9158	FIBP	ORPHA:500095
HP:0001263	Global developmental delay	256471	MFSD8	OMIM:610951
HP:0001263	Global developmental delay	51341	ZBTB7A	OMIM:619769
HP:0001263	Global developmental delay	2729	GCLC	ORPHA:33574
HP:0001263	Global developmental delay	9338	TCEAL1	OMIM:301094
HP:0001263	Global developmental delay	2556	GABRA3	OMIM:301091
HP:0001263	Global developmental delay	2271	FH	OMIM:606812
HP:0001263	Global developmental delay	7030	TFE3	OMIM:301066
HP:0001263	Global developmental delay	51651	PTRH2	OMIM:616263
HP:0001263	Global developmental delay	51651	PTRH2	ORPHA:456312
HP:0001263	Global developmental delay	23162	MAPK8IP3	OMIM:618443
HP:0001263	Global developmental delay	54941	RNF125	OMIM:616260
HP:0001263	Global developmental delay	339855	KY	OMIM:617114
HP:0001263	Global developmental delay	2562	GABRB3	OMIM:617113
HP:0001263	Global developmental delay	5286	PIK3C2A	OMIM:618440
HP:0001263	Global developmental delay	10463	SLC30A9	OMIM:617595
HP:0001263	Global developmental delay	388662	SLC6A17	OMIM:616269
HP:0001263	Global developmental delay	388662	SLC6A17	ORPHA:457212
HP:0001263	Global developmental delay	85459	CEP295	OMIM:620767
HP:0001263	Global developmental delay	10195	ALG3	ORPHA:79321
HP:0001263	Global developmental delay	10195	ALG3	OMIM:601110
HP:0001263	Global developmental delay	79053	ALG8	ORPHA:79325
HP:0001263	Global developmental delay	57192	MCOLN1	OMIM:252650
HP:0001263	Global developmental delay	3756	KCNH1	OMIM:611816
HP:0001263	Global developmental delay	3897	L1CAM	OMIM:304100
HP:0001263	Global developmental delay	26100	WIPI2	OMIM:618453
HP:0001263	Global developmental delay	8295	TRRAP	OMIM:618454
HP:0001263	Global developmental delay	1892	ECHS1	OMIM:616277
HP:0001263	Global developmental delay	51117	COQ4	OMIM:616276
HP:0001263	Global developmental delay	3658	IREB2	OMIM:618451
HP:0001263	Global developmental delay	3763	KCNJ6	OMIM:614098
HP:0001263	Global developmental delay	5256	PHKA2	ORPHA:264580
HP:0001263	Global developmental delay	5261	PHKG2	ORPHA:264580
HP:0001263	Global developmental delay	221078	NSUN6	OMIM:620779
HP:0001263	Global developmental delay	6878	TAF6	OMIM:617126
HP:0001263	Global developmental delay	58497	PRUNE1	ORPHA:544469
HP:0001263	Global developmental delay	51013	EXOSC1	OMIM:619304
HP:0001263	Global developmental delay	5062	PAK2	OMIM:618458
HP:0001263	Global developmental delay	27145	FILIP1	OMIM:620775
HP:0001263	Global developmental delay	78987	CRELD1	OMIM:620771
HP:0001263	Global developmental delay	9900	SV2A	OMIM:620772
HP:0001263	Global developmental delay	84706	GPT2	OMIM:616281
HP:0001263	Global developmental delay	84706	GPT2	ORPHA:477673
HP:0001263	Global developmental delay	5898	RALA	OMIM:619311
HP:0001263	Global developmental delay	54892	NCAPG2	OMIM:618460
HP:0001263	Global developmental delay	2355	FOSL2	OMIM:620789
HP:0001263	Global developmental delay	6650	CAPN15	OMIM:619318
HP:0001263	Global developmental delay	3032	HADHB	OMIM:620300
HP:0001263	Global developmental delay	84320	ACBD6	OMIM:620785
HP:0001263	Global developmental delay	4076	CAPRIN1	OMIM:620782
HP:0001263	Global developmental delay	11267	SNF8	OMIM:620783
HP:0001263	Global developmental delay	3786	KCNQ3	OMIM:121201
HP:0001263	Global developmental delay	7253	TSHR	ORPHA:424
HP:0001263	Global developmental delay	7253	TSHR	ORPHA:95720
HP:0001263	Global developmental delay	7253	TSHR	ORPHA:95713
HP:0001263	Global developmental delay	10102	TSFM	OMIM:610505
HP:0001263	Global developmental delay	1436	CSF1R	OMIM:618476
HP:0001263	Global developmental delay	29998	BICRA	OMIM:619325
HP:0001263	Global developmental delay	51601	LIPT1	OMIM:616299
HP:0001263	Global developmental delay	23030	KDM4B	OMIM:619320
HP:0001263	Global developmental delay	29968	PSAT1	OMIM:610992
HP:0001263	Global developmental delay	4081	MAB21L1	OMIM:618479
HP:0001263	Global developmental delay	1654	DDX3X	ORPHA:457260
HP:0001263	Global developmental delay	157922	CAMSAP1	OMIM:620316
HP:0001263	Global developmental delay	10073	SNUPN	OMIM:620793
HP:0001263	Global developmental delay	6263	RYR3	OMIM:620310
HP:0001263	Global developmental delay	1282	COL4A1	ORPHA:899
HP:0001263	Global developmental delay	729920	CRPPA	ORPHA:899
HP:0001263	Global developmental delay	10329	RXYLT1	ORPHA:899
HP:0001263	Global developmental delay	8869	ST3GAL5	OMIM:609056
HP:0001263	Global developmental delay	161725	OTUD7A	OMIM:620790
HP:0001263	Global developmental delay	1725	DHPS	OMIM:618480
HP:0001263	Global developmental delay	25929	GEMIN5	OMIM:619333
HP:0001263	Global developmental delay	2560	GABRB1	OMIM:617153
HP:0001263	Global developmental delay	23221	RHOBTB2	OMIM:618004
HP:0001263	Global developmental delay	34	ACADM	OMIM:201450
HP:0001263	Global developmental delay	79641	ROGDI	OMIM:226750
HP:0001263	Global developmental delay	4125	MAN2B1	OMIM:248500
HP:0001263	Global developmental delay	23229	ARHGEF9	OMIM:300607
HP:0001263	Global developmental delay	1108	CHD4	OMIM:617159
HP:0001263	Global developmental delay	400569	MED11	OMIM:620327
HP:0001263	Global developmental delay	9969	MED13	OMIM:618009
HP:0001263	Global developmental delay	1781	DYNC1I2	OMIM:618492
HP:0001263	Global developmental delay	8091	HMGA2	ORPHA:94063
HP:0001263	Global developmental delay	8091	HMGA2	ORPHA:397590
HP:0001263	Global developmental delay	23592	LEMD3	ORPHA:94063
HP:0001263	Global developmental delay	372	ARCN1	OMIM:617164
HP:0001263	Global developmental delay	22808	MRAS	OMIM:618499
HP:0001263	Global developmental delay	54681	P4HTM	OMIM:618493
HP:0001263	Global developmental delay	5283	PIGH	OMIM:618010
HP:0001263	Global developmental delay	1822	ATN1	OMIM:618494
HP:0001263	Global developmental delay	84896	ATAD1	OMIM:618011
HP:0001263	Global developmental delay	51305	KCNK9	ORPHA:166108
HP:0001263	Global developmental delay	51305	KCNK9	OMIM:612292
HP:0001263	Global developmental delay	84668	HYCC1	OMIM:610532
HP:0001263	Global developmental delay	84668	HYCC1	ORPHA:85163
HP:0001263	Global developmental delay	9343	EFTUD2	OMIM:610536
HP:0001263	Global developmental delay	84701	COX4I2	OMIM:612714
HP:0001263	Global developmental delay	1756	DMD	ORPHA:98896
HP:0001263	Global developmental delay	8425	LTBP4	ORPHA:98896
HP:0001263	Global developmental delay	6697	SPR	OMIM:612716
HP:0001263	Global developmental delay	2628	GATM	OMIM:612718
HP:0001263	Global developmental delay	5281	PIGF	OMIM:619356
HP:0001263	Global developmental delay	5977	DPF2	OMIM:618027
HP:0001263	Global developmental delay	28962	OSTM1	ORPHA:85179
HP:0001263	Global developmental delay	35	ACADS	OMIM:201470
HP:0001263	Global developmental delay	1387	CREBBP	OMIM:180849
HP:0001263	Global developmental delay	57514	ARHGAP31	OMIM:100300
HP:0001263	Global developmental delay	84172	POLR1B	ORPHA:861
HP:0001263	Global developmental delay	51082	POLR1D	ORPHA:861
HP:0001263	Global developmental delay	6949	TCOF1	ORPHA:861
HP:0001263	Global developmental delay	2077	ERF	OMIM:617180
HP:0001263	Global developmental delay	128240	NAXE	OMIM:617186
HP:0001263	Global developmental delay	79143	MBOAT7	OMIM:617188
HP:0001263	Global developmental delay	539	ATP5PO	OMIM:620359
HP:0001263	Global developmental delay	498	ATP5F1A	OMIM:620358
HP:0001263	Global developmental delay	2593	GAMT	OMIM:612736
HP:0001263	Global developmental delay	2811	GP1BA	ORPHA:853
HP:0001263	Global developmental delay	3674	ITGA2B	ORPHA:853
HP:0001263	Global developmental delay	3673	ITGA2	ORPHA:853
HP:0001263	Global developmental delay	135228	CD109	ORPHA:853
HP:0001263	Global developmental delay	3690	ITGB3	ORPHA:853
HP:0001263	Global developmental delay	55252	ASXL2	OMIM:617190
HP:0001263	Global developmental delay	55898	UNC45A	OMIM:619377
HP:0001263	Global developmental delay	2332	FMR1	ORPHA:261483
HP:0001263	Global developmental delay	6571	SLC18A2	OMIM:618049
HP:0001263	Global developmental delay	6571	SLC18A2	ORPHA:352649
HP:0001263	Global developmental delay	5236	PGM1	OMIM:614921
HP:0001263	Global developmental delay	55005	RMND1	OMIM:614922
HP:0001263	Global developmental delay	3295	HSD17B4	OMIM:261515
HP:0001263	Global developmental delay	10295	BCKDK	OMIM:614923
HP:0001263	Global developmental delay	124454	EARS2	OMIM:614924
HP:0001263	Global developmental delay	55074	OXR1	OMIM:213000
HP:0001263	Global developmental delay	11011	TLK2	OMIM:618050
HP:0001263	Global developmental delay	129285	PPP1R21	OMIM:619383
HP:0001263	Global developmental delay	27072	VPS41	OMIM:619389
HP:0001263	Global developmental delay	341208	HEPHL1	OMIM:261990
HP:0001263	Global developmental delay	4893	NRAS	OMIM:249400
HP:0001263	Global developmental delay	221927	BRAT1	OMIM:618056
HP:0001263	Global developmental delay	221927	BRAT1	OMIM:614498
HP:0001263	Global developmental delay	3480	IGF1R	OMIM:270450
HP:0001263	Global developmental delay	6584	SLC22A5	OMIM:212140
HP:0001263	Global developmental delay	10128	LRPPRC	OMIM:220111
HP:0001263	Global developmental delay	10128	LRPPRC	ORPHA:70472
HP:0001263	Global developmental delay	158	ADSL	OMIM:103050
HP:0001263	Global developmental delay	81555	YIPF5	OMIM:619278
HP:0001263	Global developmental delay	4570	MT-TN	OMIM:220110
HP:0001263	Global developmental delay	6834	SURF1	OMIM:220110
HP:0001263	Global developmental delay	4645	MYO5B	ORPHA:2290
HP:0001263	Global developmental delay	347734	SLC35B2	OMIM:620269
HP:0001263	Global developmental delay	132158	GLYCTK	ORPHA:941
HP:0001263	Global developmental delay	132158	GLYCTK	OMIM:220120
HP:0001263	Global developmental delay	9690	UBE3C	OMIM:620270
HP:0001263	Global developmental delay	9442	MED27	OMIM:619286
HP:0001263	Global developmental delay	2911	GRM1	OMIM:614831
HP:0001263	Global developmental delay	3899	AFF3	OMIM:619297
HP:0001263	Global developmental delay	1757	SARDH	ORPHA:3129
HP:0001263	Global developmental delay	36	ACADSB	OMIM:610006
HP:0001263	Global developmental delay	7841	MOGS	OMIM:606056
HP:0001263	Global developmental delay	26523	AGO1	OMIM:620292
HP:0001263	Global developmental delay	29128	UHRF1	ORPHA:2268
HP:0001263	Global developmental delay	1789	DNMT3B	ORPHA:2268
HP:0001263	Global developmental delay	4338	MOCS2	OMIM:252160
HP:0001263	Global developmental delay	5826	ABCD4	OMIM:614857
HP:0001263	Global developmental delay	9711	RUBCN	OMIM:615705
HP:0001263	Global developmental delay	2697	GJA1	OMIM:257850
HP:0001263	Global developmental delay	1857	DVL3	ORPHA:3107
HP:0001263	Global developmental delay	2535	FZD2	ORPHA:3107
HP:0001263	Global developmental delay	9255	AIMP1	OMIM:260600
HP:0001263	Global developmental delay	5297	PI4KA	ORPHA:98889
HP:0001263	Global developmental delay	5297	PI4KA	OMIM:619708
HP:0001263	Global developmental delay	27286	SRPX2	ORPHA:98889
HP:0001263	Global developmental delay	4952	OCRL	OMIM:309000
HP:0001263	Global developmental delay	157570	ESCO2	ORPHA:3103
HP:0001263	Global developmental delay	78989	COLEC11	OMIM:265050
HP:0001263	Global developmental delay	728294	D2HGDH	OMIM:600721
HP:0001263	Global developmental delay	2521	FUS	ORPHA:300605
HP:0001263	Global developmental delay	80208	SPG11	ORPHA:300605
HP:0001263	Global developmental delay	10280	SIGMAR1	ORPHA:300605
HP:0001263	Global developmental delay	10558	SPTLC1	ORPHA:300605
HP:0001263	Global developmental delay	5324	PLAG1	ORPHA:397590
HP:0001263	Global developmental delay	162417	NAGS	ORPHA:927
HP:0001263	Global developmental delay	10165	SLC25A13	ORPHA:247585
HP:0001263	Global developmental delay	11023	VAX1	OMIM:614402
HP:0001263	Global developmental delay	51199	NIN	ORPHA:319675
HP:0001263	Global developmental delay	117581	TWIST2	ORPHA:920
HP:0001263	Global developmental delay	867	CBL	OMIM:613563
HP:0001263	Global developmental delay	3329	HSPD1	OMIM:612233
HP:0001263	Global developmental delay	2554	GABRA1	OMIM:615744
HP:0001263	Global developmental delay	137492	VPS37A	OMIM:614898
HP:0001263	Global developmental delay	10695	CNPY3	OMIM:617929
HP:0001263	Global developmental delay	763	CA5A	OMIM:615751
HP:0001263	Global developmental delay	7545	ZIC1	OMIM:616602
HP:0001263	Global developmental delay	27249	MMADHC	OMIM:277410
HP:0001263	Global developmental delay	27249	MMADHC	ORPHA:79283
HP:0001263	Global developmental delay	55209	SETD5	OMIM:615761
HP:0001263	Global developmental delay	10157	AASS	ORPHA:2203
HP:0001263	Global developmental delay	79631	EFL1	OMIM:617941
HP:0001263	Global developmental delay	5053	PAH	ORPHA:79254
HP:0001263	Global developmental delay	5053	PAH	ORPHA:2209
HP:0001263	Global developmental delay	64221	ROBO3	OMIM:607313
HP:0001263	Global developmental delay	5932	RBBP8	OMIM:251255
HP:0001263	Global developmental delay	7849	PAX8	ORPHA:95720
HP:0001263	Global developmental delay	7849	PAX8	ORPHA:95713
HP:0001263	Global developmental delay	7849	PAX8	ORPHA:95712
HP:0001263	Global developmental delay	5172	SLC26A4	ORPHA:95720
HP:0001263	Global developmental delay	5172	SLC26A4	ORPHA:95713
HP:0001263	Global developmental delay	4297	KMT2A	OMIM:605130
HP:0001263	Global developmental delay	2542	SLC37A4	ORPHA:79259
HP:0001263	Global developmental delay	2592	GALT	ORPHA:79239
HP:0001263	Global developmental delay	51116	MRPS2	OMIM:617950
HP:0001263	Global developmental delay	9512	PMPCB	OMIM:617954
HP:0001263	Global developmental delay	1482	NKX2-5	ORPHA:95713
HP:0001263	Global developmental delay	1482	NKX2-5	ORPHA:95712
HP:0001263	Global developmental delay	26007	TKFC	OMIM:618805
HP:0001263	Global developmental delay	2058	EPRS1	OMIM:617951
HP:0001263	Global developmental delay	64131	XYLT1	OMIM:615777
HP:0001263	Global developmental delay	9056	SLC7A7	OMIM:222700
HP:0001263	Global developmental delay	54664	TMEM106B	OMIM:617964
HP:0001263	Global developmental delay	6785	ELOVL4	OMIM:614457
HP:0001263	Global developmental delay	5116	PCNT	OMIM:210720
HP:0001263	Global developmental delay	5116	PCNT	ORPHA:2637
HP:0001263	Global developmental delay	27010	TPK1	OMIM:614458
HP:0001263	Global developmental delay	11019	LIAS	OMIM:614462
HP:0001263	Global developmental delay	57468	SLC12A5	OMIM:616645
HP:0001263	Global developmental delay	9791	PTDSS1	ORPHA:2658
HP:0001263	Global developmental delay	4659	PPP1R12A	OMIM:618820
HP:0001263	Global developmental delay	3704	ITPA	OMIM:616647
HP:0001263	Global developmental delay	56270	WDR45B	OMIM:617977
HP:0001263	Global developmental delay	285175	UNC80	ORPHA:371364
HP:0001263	Global developmental delay	22934	RPIA	OMIM:608611
HP:0001263	Global developmental delay	8405	SPOP	OMIM:618828
HP:0001263	Global developmental delay	26576	SRPK3	OMIM:301134
HP:0001263	Global developmental delay	22871	NLGN1	OMIM:618830
HP:0001263	Global developmental delay	2670	GFAP	ORPHA:363717
HP:0001263	Global developmental delay	5500	PPP1CB	OMIM:617506
HP:0001263	Global developmental delay	6509	SLC1A4	OMIM:616657
HP:0001263	Global developmental delay	54676	GTPBP2	OMIM:617988
HP:0001263	Global developmental delay	100506658	OCLN	OMIM:251290
HP:0001263	Global developmental delay	5296	PIK3R2	OMIM:603387
HP:0001263	Global developmental delay	3920	LAMP2	OMIM:300257
HP:0001263	Global developmental delay	529	ATP6V1E1	ORPHA:357074
HP:0001263	Global developmental delay	55023	PHIP	OMIM:617991
HP:0001263	Global developmental delay	84631	SLITRK2	OMIM:301107
HP:0001263	Global developmental delay	1284	COL4A2	OMIM:614483
HP:0001263	Global developmental delay	5718	PSMD12	OMIM:617516
HP:0001263	Global developmental delay	51294	PCDH12	OMIM:251280
HP:0001263	Global developmental delay	57731	SPTBN4	OMIM:617519
HP:0001263	Global developmental delay	6223	RPS19	OMIM:105650
HP:0001263	Global developmental delay	2639	GCDH	OMIM:231670
HP:0001263	Global developmental delay	64072	CDH23	ORPHA:231169
HP:0001263	Global developmental delay	10083	USH1C	ORPHA:231169
HP:0001263	Global developmental delay	124590	USH1G	ORPHA:231169
HP:0001263	Global developmental delay	83715	ESPN	ORPHA:231169
HP:0001263	Global developmental delay	10518	CIB2	ORPHA:231169
HP:0001263	Global developmental delay	4647	MYO7A	ORPHA:231169
HP:0001263	Global developmental delay	65217	PCDH15	ORPHA:231169
HP:0001263	Global developmental delay	29071	C1GALT1C1	OMIM:301110
HP:0001263	Global developmental delay	4747	NEFL	OMIM:607734
HP:0001263	Global developmental delay	51733	UPB1	OMIM:613161
HP:0001263	Global developmental delay	28985	MCTS1	OMIM:301115
HP:0001263	Global developmental delay	18	ABAT	OMIM:613163
HP:0001263	Global developmental delay	7543	ZFX	OMIM:301118
HP:0001263	Global developmental delay	80169	CTC1	ORPHA:1775
HP:0001263	Global developmental delay	55651	NHP2	ORPHA:1775
HP:0001263	Global developmental delay	79650	USB1	ORPHA:1775
HP:0001263	Global developmental delay	55135	WRAP53	ORPHA:1775
HP:0001263	Global developmental delay	4869	NPM1	ORPHA:1775
HP:0001263	Global developmental delay	7012	TERC	ORPHA:1775
HP:0001263	Global developmental delay	55505	NOP10	ORPHA:1775
HP:0001263	Global developmental delay	7298	TYMS	ORPHA:1775
HP:0001263	Global developmental delay	85378	TUBGCP6	OMIM:251270
HP:0001263	Global developmental delay	96459	FNIP1	OMIM:619705
HP:0001263	Global developmental delay	25871	NEPRO	OMIM:618853
HP:0001263	Global developmental delay	55753	OGDHL	OMIM:619701
HP:0001263	Global developmental delay	22868	FASTKD2	OMIM:618855
HP:0001263	Global developmental delay	126792	B3GALT6	OMIM:615349
HP:0001263	Global developmental delay	284217	LAMA1	ORPHA:370022
HP:0001263	Global developmental delay	5052	PRDX1	OMIM:277400
HP:0001263	Global developmental delay	25974	MMACHC	OMIM:277400
HP:0001263	Global developmental delay	2582	GALE	OMIM:230350
HP:0001263	Global developmental delay	10841	FTCD	ORPHA:51208
HP:0001263	Global developmental delay	6909	TBX2	OMIM:618223
HP:0001263	Global developmental delay	6495	SIX1	OMIM:113650
HP:0001263	Global developmental delay	29927	SEC61A1	OMIM:617056
HP:0001263	Global developmental delay	6938	TCF12	OMIM:615314
HP:0001263	Global developmental delay	22800	RRAS2	OMIM:618624
HP:0001263	Global developmental delay	10992	SF3B2	OMIM:164210
HP:0001263	Global developmental delay	22845	DOLK	ORPHA:91131
HP:0001263	Global developmental delay	4173	MCM4	OMIM:609981
HP:0001263	Global developmental delay	51163	DBR1	OMIM:619441
HP:0001263	Global developmental delay	4780	NFE2L2	OMIM:617744
HP:0001263	Global developmental delay	275	AMT	OMIM:620398
HP:0001263	Global developmental delay	338657	CENATAC	OMIM:620153
HP:0001263	Global developmental delay	4693	NDP	ORPHA:891
HP:0001263	Global developmental delay	23554	TSPAN12	ORPHA:891
HP:0001263	Global developmental delay	79797	ZNF408	ORPHA:891
HP:0001263	Global developmental delay	8322	FZD4	ORPHA:891
HP:0001263	Global developmental delay	545	ATR	ORPHA:808
HP:0001263	Global developmental delay	79902	NUP85	ORPHA:808
HP:0001263	Global developmental delay	84126	ATRIP	ORPHA:808
HP:0001263	Global developmental delay	5257	PHKB	ORPHA:79240
HP:0001263	Global developmental delay	256297	PTF1A	OMIM:615935
HP:0001263	Global developmental delay	4566	MT-TK	ORPHA:1349
HP:0001263	Global developmental delay	8546	AP3B1	OMIM:608233
HP:0001263	Global developmental delay	20	ABCA2	OMIM:618808
HP:0001263	Global developmental delay	506	ATP5F1B	OMIM:620085
HP:0001263	Global developmental delay	1513	CTSK	ORPHA:763
HP:0001263	Global developmental delay	9496	TBX4	ORPHA:261279
HP:0001263	Global developmental delay	56160	NSMCE3	OMIM:617241
HP:0001263	Global developmental delay	7156	TOP3A	OMIM:618097
HP:0001263	Global developmental delay	5573	PRKAR1A	OMIM:101800
HP:0001263	Global developmental delay	58499	ZNF462	OMIM:618619
HP:0001263	Global developmental delay	27034	ACAD8	ORPHA:79159
HP:0001263	Global developmental delay	5702	PSMC3	OMIM:619354
HP:0001263	Global developmental delay	644096	SDHAF1	ORPHA:3208
HP:0001263	Global developmental delay	3034	HAL	ORPHA:2157
HP:0001263	Global developmental delay	54790	TET2	OMIM:619126
HP:0001263	Global developmental delay	8567	MADD	OMIM:619005
HP:0001263	Global developmental delay	26227	PHGDH	ORPHA:79351
HP:0001263	Global developmental delay	4702	NDUFA8	OMIM:619272
HP:0001263	Global developmental delay	27183	VPS4A	OMIM:619273
HP:0001263	Global developmental delay	7360	UGP2	OMIM:618744
HP:0001263	Global developmental delay	1119	CHKA	OMIM:620023
HP:0001263	Global developmental delay	4577	MT-TV	ORPHA:255210
HP:0001263	Global developmental delay	51112	TRAPPC12	ORPHA:500144
HP:0001263	Global developmental delay	51112	TRAPPC12	OMIM:617669
HP:0001263	Global developmental delay	6487	ST3GAL3	OMIM:615006
HP:0001263	Global developmental delay	56246	MRAP	OMIM:607398
HP:0001263	Global developmental delay	56992	KIF15	ORPHA:261323
HP:0001263	Global developmental delay	170825	GSX2	OMIM:618646
HP:0001263	Global developmental delay	4330	MN1	OMIM:618774
HP:0001263	Global developmental delay	1501	CTNND2	ORPHA:281
HP:0001263	Global developmental delay	9037	SEMA5A	ORPHA:281
HP:0001263	Global developmental delay	497661	C18orf32	OMIM:619985
HP:0001263	Global developmental delay	8550	MAPKAPK5	OMIM:619869
HP:0001263	Global developmental delay	2752	GLUL	OMIM:610015
HP:0001263	Global developmental delay	149371	EXOC8	OMIM:619076
HP:0001263	Global developmental delay	9681	DEPDC5	OMIM:620504
HP:0001263	Global developmental delay	79753	SNIP1	OMIM:614501
HP:0001263	Global developmental delay	93986	FOXP2	ORPHA:251061
HP:0001263	Global developmental delay	5626	PROP1	ORPHA:95494
HP:0001263	Global developmental delay	3170	FOXA2	ORPHA:95494
HP:0001263	Global developmental delay	5449	POU1F1	ORPHA:95494
HP:0001263	Global developmental delay	10436	EMG1	ORPHA:1270
HP:0001263	Global developmental delay	253959	RALGAPA1	OMIM:618797
HP:0001263	Global developmental delay	7358	UGDH	OMIM:618792
HP:0001263	Global developmental delay	182	JAG1	OMIM:118450
HP:0001263	Global developmental delay	8813	DPM1	OMIM:608799
HP:0001263	Global developmental delay	8218	CLTCL1	ORPHA:453510
HP:0001263	Global developmental delay	50628	GEMIN4	OMIM:617913
HP:0001263	Global developmental delay	283989	TSEN54	OMIM:277470
HP:0001263	Global developmental delay	283989	TSEN54	OMIM:225753
HP:0001263	Global developmental delay	283989	TSEN54	ORPHA:2524
HP:0001263	Global developmental delay	51693	TRAPPC2L	OMIM:618331
HP:0001263	Global developmental delay	10243	GPHN	OMIM:615501
HP:0001263	Global developmental delay	55770	EXOC2	OMIM:619306
HP:0001263	Global developmental delay	132	ADK	OMIM:614300
HP:0001263	Global developmental delay	54973	INTS11	OMIM:620428
HP:0001263	Global developmental delay	51807	TUBA8	ORPHA:250972
HP:0001263	Global developmental delay	9526	MPDU1	OMIM:609180
HP:0001263	Global developmental delay	2258	FGF13	OMIM:301058
HP:0001263	Global developmental delay	128869	PIGU	OMIM:618590
HP:0001263	Global developmental delay	22854	NTNG1	ORPHA:3095
HP:0001263	Global developmental delay	55610	VPS50	OMIM:619685
HP:0001263	Global developmental delay	6567	SLC16A2	OMIM:300523
HP:0001263	Global developmental delay	8882	ZPR1	OMIM:619321
HP:0001263	Global developmental delay	7280	TUBB2A	OMIM:615763
HP:0001263	Global developmental delay	50	ACO2	OMIM:614559
HP:0001263	Global developmental delay	79068	FTO	OMIM:612938
HP:0001263	Global developmental delay	54808	DYM	OMIM:223800
HP:0001263	Global developmental delay	5934	RBL2	OMIM:619690
HP:0001263	Global developmental delay	63925	ZNF335	OMIM:615095
HP:0001263	Global developmental delay	2530	FUT8	OMIM:618005
HP:0001263	Global developmental delay	91647	ATPAF2	OMIM:604273
HP:0001263	Global developmental delay	6045	RNF2	OMIM:619460
HP:0001263	Global developmental delay	60386	SLC25A19	ORPHA:99742
HP:0001263	Global developmental delay	8943	AP3D1	OMIM:617050
HP:0001263	Global developmental delay	57003	CCDC47	OMIM:618268
HP:0001263	Global developmental delay	4576	MT-TT	ORPHA:254857
HP:0001263	Global developmental delay	5167	ENPP1	ORPHA:51608
HP:0001263	Global developmental delay	368	ABCC6	ORPHA:51608
HP:0001263	Global developmental delay	25914	RTTN	ORPHA:468631
HP:0001263	Global developmental delay	79042	TSEN34	ORPHA:2524
HP:0001263	Global developmental delay	80746	TSEN2	ORPHA:2524
HP:0001263	Global developmental delay	8911	CACNA1I	OMIM:620114
HP:0001263	Global developmental delay	5331	PLCB3	OMIM:618961
HP:0001263	Global developmental delay	10479	SLC9A6	ORPHA:85278
HP:0001263	Global developmental delay	9197	SLC33A1	OMIM:614482
HP:0001263	Global developmental delay	738	VPS51	OMIM:618606
HP:0001263	Global developmental delay	5557	PRIM1	OMIM:620005
HP:0001263	Global developmental delay	23102	TBC1D2B	ORPHA:397973
HP:0001263	Global developmental delay	1496	CTNNA2	OMIM:618174
HP:0001263	Global developmental delay	221692	PHACTR1	OMIM:618298
HP:0001263	Global developmental delay	90952	ESAM	OMIM:620371
HP:0001263	Global developmental delay	91949	COG7	OMIM:608779
HP:0001263	Global developmental delay	9254	CACNA2D2	OMIM:618501
HP:0001263	Global developmental delay	116115	ZNF526	OMIM:619877
HP:0001263	Global developmental delay	8364	H4C3	OMIM:619758
HP:0001263	Global developmental delay	64220	STRA6	OMIM:601186
HP:0001263	Global developmental delay	2222	FDFT1	OMIM:618156
HP:0001263	Global developmental delay	60558	GUF1	OMIM:617065
HP:0001263	Global developmental delay	64801	ARV1	OMIM:617020
HP:0001263	Global developmental delay	122961	ISCA2	OMIM:616370
HP:0001263	Global developmental delay	5859	QARS1	OMIM:615760
HP:0001263	Global developmental delay	55704	CCDC88A	OMIM:617507
HP:0001263	Global developmental delay	57038	RARS2	OMIM:611523
HP:0001263	Global developmental delay	57582	KCNT1	OMIM:614959
HP:0001263	Global developmental delay	7965	AIMP2	OMIM:618006
HP:0001263	Global developmental delay	9570	GOSR2	OMIM:620166
HP:0001263	Global developmental delay	25930	PTPN23	OMIM:618890
HP:0001263	Global developmental delay	667	DST	OMIM:614653
HP:0001263	Global developmental delay	9419	CRIPT	OMIM:615789
HP:0002435	Meningocele	5077	PAX3	ORPHA:894
HP:0002435	Meningocele	6309	SC5D	ORPHA:46059
HP:0002435	Meningocele	7476	WNT7A	ORPHA:2879
HP:0002435	Meningocele	80184	CEP290	OMIM:611134
HP:0002435	Meningocele	134701	RIPPLY2	ORPHA:2311
HP:0002435	Meningocele	10683	DLL3	ORPHA:2311
HP:0002435	Meningocele	3955	LFNG	ORPHA:2311
HP:0002435	Meningocele	84667	HES7	ORPHA:2311
HP:0002435	Meningocele	145873	MESP2	ORPHA:2311
HP:0002435	Meningocele	5290	PIK3CA	ORPHA:140944
HP:0002435	Meningocele	65062	TMEM237	OMIM:614424
HP:0002435	Meningocele	57688	ZSWIM6	ORPHA:1827
HP:0002435	Meningocele	1312	COMT	ORPHA:567
HP:0002435	Meningocele	221037	JMJD1C	ORPHA:567
HP:0002435	Meningocele	2812	GP1BB	ORPHA:567
HP:0002435	Meningocele	6239	RREB1	ORPHA:567
HP:0002435	Meningocele	6899	TBX1	ORPHA:567
HP:0002435	Meningocele	7290	HIRA	ORPHA:567
HP:0002435	Meningocele	9632	SEC24C	ORPHA:567
HP:0002435	Meningocele	7353	UFD1	ORPHA:567
HP:0002435	Meningocele	421	ARVCF	ORPHA:567
HP:0002435	Meningocele	148789	B3GALNT2	ORPHA:588
HP:0002435	Meningocele	29925	GMPPB	ORPHA:588
HP:0002435	Meningocele	79147	FKRP	ORPHA:588
HP:0002435	Meningocele	9215	LARGE1	ORPHA:588
HP:0002435	Meningocele	29954	POMT2	ORPHA:588
HP:0002435	Meningocele	2218	FKTN	ORPHA:588
HP:0002435	Meningocele	729920	CRPPA	ORPHA:588
HP:0002435	Meningocele	55624	POMGNT1	ORPHA:588
HP:0002435	Meningocele	10585	POMT1	ORPHA:588
HP:0002435	Meningocele	81839	VANGL1	OMIM:600145
HP:0002435	Meningocele	79848	CSPP1	ORPHA:397715
HP:0002435	Meningocele	9786	KIAA0586	ORPHA:397715
HP:0002435	Meningocele	6628	SNRPB	ORPHA:1393
HP:0002435	Meningocele	4854	NOTCH3	OMIM:130720
HP:0002435	Meningocele	4854	NOTCH3	ORPHA:2789
HP:0002435	Meningocele	2697	GJA1	ORPHA:1010
HP:0002435	Meningocele	57466	SCAF4	OMIM:620511
HP:0002435	Meningocele	51259	TMEM216	OMIM:603194
HP:0002435	Meningocele	80781	COL18A1	OMIM:267750
HP:0002435	Meningocele	5727	PTCH1	OMIM:610828
HP:0002435	Meningocele	2736	GLI2	OMIM:610829
HP:0002435	Meningocele	65250	CPLANE1	OMIM:277170
HP:0002435	Meningocele	6608	SMO	OMIM:601707
HP:0002435	Meningocele	56623	INPP5E	OMIM:213300
HP:0002436	Occipital meningocele	9786	KIAA0586	OMIM:616546
HP:0002436	Occipital meningocele	80781	COL18A1	OMIM:267750
HP:0002436	Occipital meningocele	5727	PTCH1	OMIM:610828
HP:0002436	Occipital meningocele	2736	GLI2	OMIM:610829
HP:0002436	Occipital meningocele	7476	WNT7A	OMIM:276820
HP:0002436	Occipital meningocele	65250	CPLANE1	OMIM:277170
HP:0002436	Occipital meningocele	6608	SMO	OMIM:601707
HP:0002436	Occipital meningocele	56623	INPP5E	OMIM:213300
HP:0002438	Cerebellar malformation	10682	EBP	ORPHA:401973
HP:0002438	Cerebellar malformation	10682	EBP	OMIM:300960
HP:0002438	Cerebellar malformation	10682	EBP	OMIM:302960
HP:0002438	Cerebellar malformation	56896	DPYSL5	OMIM:619435
HP:0002438	Cerebellar malformation	56896	DPYSL5	ORPHA:7
HP:0002438	Cerebellar malformation	4893	NRAS	ORPHA:2612
HP:0002438	Cerebellar malformation	4893	NRAS	OMIM:249400
HP:0002438	Cerebellar malformation	23556	PIGN	ORPHA:2059
HP:0002438	Cerebellar malformation	7355	SLC35A2	ORPHA:356961
HP:0002438	Cerebellar malformation	65062	TMEM237	OMIM:614424
HP:0002438	Cerebellar malformation	65062	TMEM237	ORPHA:564
HP:0002438	Cerebellar malformation	7545	ZIC1	OMIM:616602
HP:0002438	Cerebellar malformation	7545	ZIC1	OMIM:618736
HP:0002438	Cerebellar malformation	84942	WDR73	OMIM:251300
HP:0002438	Cerebellar malformation	2737	GLI3	ORPHA:36
HP:0002438	Cerebellar malformation	374654	KIF7	ORPHA:36
HP:0002438	Cerebellar malformation	79848	CSPP1	ORPHA:397715
HP:0002438	Cerebellar malformation	79848	CSPP1	ORPHA:564
HP:0002438	Cerebellar malformation	9786	KIAA0586	ORPHA:397715
HP:0002438	Cerebellar malformation	57465	TBC1D24	OMIM:220500
HP:0002438	Cerebellar malformation	57465	TBC1D24	ORPHA:79500
HP:0002438	Cerebellar malformation	55112	DYNC2I1	ORPHA:93271
HP:0002438	Cerebellar malformation	57560	IFT80	ORPHA:93271
HP:0002438	Cerebellar malformation	57539	WDR35	ORPHA:93271
HP:0002438	Cerebellar malformation	89891	DYNC2I2	ORPHA:93271
HP:0002438	Cerebellar malformation	84162	BLTP1	OMIM:617822
HP:0002438	Cerebellar malformation	4081	MAB21L1	OMIM:618479
HP:0002438	Cerebellar malformation	4081	MAB21L1	ORPHA:495875
HP:0002438	Cerebellar malformation	51259	TMEM216	OMIM:603194
HP:0002438	Cerebellar malformation	51259	TMEM216	ORPHA:564
HP:0002438	Cerebellar malformation	55636	CHD7	ORPHA:138
HP:0002438	Cerebellar malformation	9723	SEMA3E	ORPHA:138
HP:0002438	Cerebellar malformation	84892	POMGNT2	ORPHA:899
HP:0002438	Cerebellar malformation	1282	COL4A1	ORPHA:899
HP:0002438	Cerebellar malformation	10329	RXYLT1	ORPHA:899
HP:0002438	Cerebellar malformation	11041	B4GAT1	ORPHA:899
HP:0002438	Cerebellar malformation	11041	B4GAT1	OMIM:615287
HP:0002438	Cerebellar malformation	79068	FTO	OMIM:612938
HP:0002438	Cerebellar malformation	57492	ARID1B	OMIM:135900
HP:0002438	Cerebellar malformation	57492	ARID1B	ORPHA:1465
HP:0002438	Cerebellar malformation	3899	AFF3	OMIM:619297
HP:0002438	Cerebellar malformation	25885	POLR1A	OMIM:616462
HP:0002438	Cerebellar malformation	6597	SMARCA4	ORPHA:1465
HP:0002438	Cerebellar malformation	6597	SMARCA4	OMIM:614609
HP:0002438	Cerebellar malformation	6598	SMARCB1	ORPHA:1465
HP:0002438	Cerebellar malformation	6598	SMARCB1	OMIM:614608
HP:0002438	Cerebellar malformation	6659	SOX4	ORPHA:1465
HP:0002438	Cerebellar malformation	8289	ARID1A	ORPHA:1465
HP:0002438	Cerebellar malformation	8289	ARID1A	OMIM:614607
HP:0002438	Cerebellar malformation	6601	SMARCC2	ORPHA:1465
HP:0002438	Cerebellar malformation	6602	SMARCD1	ORPHA:1465
HP:0002438	Cerebellar malformation	196528	ARID2	ORPHA:1465
HP:0002438	Cerebellar malformation	6605	SMARCE1	ORPHA:1465
HP:0002438	Cerebellar malformation	6605	SMARCE1	OMIM:616938
HP:0002438	Cerebellar malformation	6664	SOX11	ORPHA:1465
HP:0002438	Cerebellar malformation	23545	ATP6V0A2	ORPHA:2834
HP:0002438	Cerebellar malformation	23545	ATP6V0A2	OMIM:219200
HP:0002438	Cerebellar malformation	23545	ATP6V0A2	ORPHA:357074
HP:0002438	Cerebellar malformation	1801	DPH1	OMIM:616901
HP:0002438	Cerebellar malformation	1801	DPH1	ORPHA:459061
HP:0002438	Cerebellar malformation	27315	PGAP2	OMIM:614207
HP:0002438	Cerebellar malformation	157570	ESCO2	ORPHA:2319
HP:0002438	Cerebellar malformation	5340	PLG	ORPHA:722
HP:0002438	Cerebellar malformation	5340	PLG	OMIM:217090
HP:0002438	Cerebellar malformation	84314	TMEM107	ORPHA:564
HP:0002438	Cerebellar malformation	26123	TCTN3	ORPHA:564
HP:0002438	Cerebellar malformation	79867	TCTN2	ORPHA:564
HP:0002438	Cerebellar malformation	80776	B9D2	ORPHA:564
HP:0002438	Cerebellar malformation	80776	B9D2	OMIM:614175
HP:0002438	Cerebellar malformation	79600	TCTN1	ORPHA:564
HP:0002438	Cerebellar malformation	57096	RPGRIP1	ORPHA:564
HP:0002438	Cerebellar malformation	80184	CEP290	ORPHA:564
HP:0002438	Cerebellar malformation	80184	CEP290	OMIM:611134
HP:0002438	Cerebellar malformation	57545	CC2D2A	ORPHA:564
HP:0002438	Cerebellar malformation	79583	TMEM231	ORPHA:564
HP:0002438	Cerebellar malformation	91147	TMEM67	ORPHA:564
HP:0002438	Cerebellar malformation	91147	TMEM67	OMIM:607361
HP:0002438	Cerebellar malformation	79770	TXNDC15	ORPHA:564
HP:0002438	Cerebellar malformation	27077	B9D1	ORPHA:564
HP:0002438	Cerebellar malformation	23322	RPGRIP1L	ORPHA:564
HP:0002438	Cerebellar malformation	27031	NPHP3	OMIM:267010
HP:0002438	Cerebellar malformation	27031	NPHP3	OMIM:208540
HP:0002438	Cerebellar malformation	27031	NPHP3	ORPHA:3032
HP:0002438	Cerebellar malformation	23258	DENND5A	OMIM:617281
HP:0002438	Cerebellar malformation	171023	ASXL1	ORPHA:97297
HP:0002438	Cerebellar malformation	171023	ASXL1	OMIM:605039
HP:0002438	Cerebellar malformation	9184	BUB3	ORPHA:1052
HP:0002438	Cerebellar malformation	699	BUB1	ORPHA:1052
HP:0002438	Cerebellar malformation	9702	CEP57	ORPHA:1052
HP:0002438	Cerebellar malformation	9319	TRIP13	ORPHA:1052
HP:0002438	Cerebellar malformation	701	BUB1B	ORPHA:1052
HP:0002438	Cerebellar malformation	701	BUB1B	OMIM:257300
HP:0002438	Cerebellar malformation	84342	COG8	OMIM:611182
HP:0002438	Cerebellar malformation	84188	FAR1	ORPHA:438178
HP:0002438	Cerebellar malformation	84188	FAR1	OMIM:616154
HP:0002438	Cerebellar malformation	124997	WDR81	OMIM:617967
HP:0002438	Cerebellar malformation	2683	B4GALT1	OMIM:607091
HP:0002438	Cerebellar malformation	2683	B4GALT1	ORPHA:79332
HP:0002438	Cerebellar malformation	26005	C2CD3	OMIM:615948
HP:0002438	Cerebellar malformation	26005	C2CD3	ORPHA:434179
HP:0002438	Cerebellar malformation	26227	PHGDH	OMIM:256520
HP:0002438	Cerebellar malformation	10804	GJB6	ORPHA:477
HP:0002438	Cerebellar malformation	2706	GJB2	ORPHA:477
HP:0002438	Cerebellar malformation	55605	KIF21A	ORPHA:994
HP:0002438	Cerebellar malformation	4927	NUP88	ORPHA:994
HP:0002438	Cerebellar malformation	7846	TUBA1A	ORPHA:994
HP:0002438	Cerebellar malformation	4654	MYOD1	ORPHA:994
HP:0002438	Cerebellar malformation	54551	MAGEL2	ORPHA:994
HP:0002438	Cerebellar malformation	4593	MUSK	ORPHA:994
HP:0002438	Cerebellar malformation	5913	RAPSN	ORPHA:994
HP:0002438	Cerebellar malformation	6572	SLC18A3	ORPHA:994
HP:0002438	Cerebellar malformation	285489	DOK7	ORPHA:994
HP:0002438	Cerebellar malformation	23126	POGZ	OMIM:616364
HP:0002438	Cerebellar malformation	7737	RNF113A	OMIM:300953
HP:0002438	Cerebellar malformation	56006	SMG9	OMIM:616920
HP:0002438	Cerebellar malformation	998	CDC42	ORPHA:487796
HP:0002438	Cerebellar malformation	51524	TMEM138	OMIM:614465
HP:0002438	Cerebellar malformation	8239	USP9X	ORPHA:480880
HP:0002438	Cerebellar malformation	8239	USP9X	OMIM:300968
HP:0002438	Cerebellar malformation	4534	MTM1	OMIM:310400
HP:0002438	Cerebellar malformation	526	ATP6V1B2	ORPHA:79500
HP:0002438	Cerebellar malformation	54880	BCOR	OMIM:300166
HP:0002438	Cerebellar malformation	203068	TUBB	OMIM:156610
HP:0002438	Cerebellar malformation	55640	FLVCR2	OMIM:225790
HP:0002438	Cerebellar malformation	28952	CCDC22	OMIM:300963
HP:0002438	Cerebellar malformation	28952	CCDC22	ORPHA:7
HP:0002438	Cerebellar malformation	1654	DDX3X	ORPHA:3338
HP:0002438	Cerebellar malformation	80210	ARMC9	OMIM:617622
HP:0002438	Cerebellar malformation	54676	GTPBP2	OMIM:617988
HP:0002438	Cerebellar malformation	5373	PMM2	ORPHA:79318
HP:0002438	Cerebellar malformation	9897	WASHC5	OMIM:220210
HP:0002438	Cerebellar malformation	9897	WASHC5	ORPHA:7
HP:0002438	Cerebellar malformation	2239	GPC4	ORPHA:373
HP:0002438	Cerebellar malformation	2719	GPC3	ORPHA:373
HP:0002438	Cerebellar malformation	23007	PLCH1	OMIM:619895
HP:0002438	Cerebellar malformation	132884	EVC2	OMIM:225500
HP:0002438	Cerebellar malformation	2121	EVC	OMIM:225500
HP:0002438	Cerebellar malformation	153241	CEP120	OMIM:616300
HP:0002438	Cerebellar malformation	523	ATP6V1A	ORPHA:357074
HP:0002438	Cerebellar malformation	529	ATP6V1E1	ORPHA:357074
HP:0002438	Cerebellar malformation	3798	KIF5A	OMIM:617235
HP:0002438	Cerebellar malformation	1028	CDKN1C	OMIM:130650
HP:0002438	Cerebellar malformation	3481	IGF2	OMIM:130650
HP:0002438	Cerebellar malformation	3784	KCNQ1	OMIM:130650
HP:0002438	Cerebellar malformation	10984	KCNQ1OT1	OMIM:130650
HP:0002438	Cerebellar malformation	738	VPS51	OMIM:618606
HP:0002438	Cerebellar malformation	1376	CPT2	ORPHA:228305
HP:0002438	Cerebellar malformation	10195	ALG3	ORPHA:79321
HP:0002438	Cerebellar malformation	219844	HYLS1	OMIM:236680
HP:0002438	Cerebellar malformation	57020	VPS35L	ORPHA:7
HP:0002438	Cerebellar malformation	4281	MID1	ORPHA:2745
HP:0002438	Cerebellar malformation	8905	AP1S2	OMIM:304340
HP:0002438	Cerebellar malformation	1802	DPH2	ORPHA:459061
HP:0002438	Cerebellar malformation	64840	PORCN	OMIM:305600
HP:0002438	Cerebellar malformation	2294	FOXF1	OMIM:265380
HP:0002438	Cerebellar malformation	5447	POR	OMIM:201750
HP:0002438	Cerebellar malformation	5447	POR	ORPHA:95699
HP:0002438	Cerebellar malformation	6309	SC5D	ORPHA:46059
HP:0002438	Cerebellar malformation	3590	IL11RA	OMIM:614188
HP:0002438	Cerebellar malformation	5290	PIK3CA	ORPHA:60040
HP:0002438	Cerebellar malformation	4659	PPP1R12A	OMIM:618820
HP:0002438	Cerebellar malformation	6804	STX1A	ORPHA:904
HP:0002438	Cerebellar malformation	7461	CLIP2	ORPHA:904
HP:0002438	Cerebellar malformation	84277	DNAJC30	ORPHA:904
HP:0002438	Cerebellar malformation	8468	FKBP6	ORPHA:904
HP:0002438	Cerebellar malformation	5982	RFC2	ORPHA:904
HP:0002438	Cerebellar malformation	2969	GTF2I	ORPHA:904
HP:0002438	Cerebellar malformation	3984	LIMK1	ORPHA:904
HP:0002438	Cerebellar malformation	9569	GTF2IRD1	ORPHA:904
HP:0002438	Cerebellar malformation	155382	VPS37D	ORPHA:904
HP:0002438	Cerebellar malformation	155368	METTL27	ORPHA:904
HP:0002438	Cerebellar malformation	114049	BUD23	ORPHA:904
HP:0002438	Cerebellar malformation	7458	EIF4H	ORPHA:904
HP:0002438	Cerebellar malformation	84163	GTF2IRD2	ORPHA:904
HP:0002438	Cerebellar malformation	26608	TBL2	ORPHA:904
HP:0002438	Cerebellar malformation	653361	NCF1	ORPHA:904
HP:0002438	Cerebellar malformation	135886	TMEM270	ORPHA:904
HP:0002438	Cerebellar malformation	9031	BAZ1B	ORPHA:904
HP:0002438	Cerebellar malformation	2006	ELN	ORPHA:904
HP:0002438	Cerebellar malformation	22800	RRAS2	OMIM:618624
HP:0002438	Cerebellar malformation	10283	CWC27	OMIM:250410
HP:0002438	Cerebellar malformation	10992	SF3B2	OMIM:164210
HP:0002438	Cerebellar malformation	1788	DNMT3A	ORPHA:404443
HP:0002438	Cerebellar malformation	11128	POLR3A	OMIM:264090
HP:0002438	Cerebellar malformation	4796	TONSL	ORPHA:93357
HP:0002438	Cerebellar malformation	4796	TONSL	OMIM:271510
HP:0002438	Cerebellar malformation	81839	VANGL1	ORPHA:3027
HP:0002438	Cerebellar malformation	80199	FUZ	ORPHA:3027
HP:0002438	Cerebellar malformation	5745	PTH1R	OMIM:600002
HP:0002438	Cerebellar malformation	4125	MAN2B1	ORPHA:309282
HP:0002438	Cerebellar malformation	79718	TBL1XR1	OMIM:602342
HP:0002438	Cerebellar malformation	79718	TBL1XR1	ORPHA:487825
HP:0002438	Cerebellar malformation	51360	MBTPS2	OMIM:308205
HP:0002438	Cerebellar malformation	1387	CREBBP	ORPHA:353281
HP:0002438	Cerebellar malformation	1387	CREBBP	ORPHA:353277
HP:0002438	Cerebellar malformation	29998	BICRA	OMIM:619325
HP:0002438	Cerebellar malformation	55159	RFWD3	OMIM:617784
HP:0002438	Cerebellar malformation	55215	FANCI	OMIM:609053
HP:0002438	Cerebellar malformation	2263	FGFR2	OMIM:123790
HP:0002438	Cerebellar malformation	2263	FGFR2	ORPHA:87
HP:0002438	Cerebellar malformation	2263	FGFR2	ORPHA:93260
HP:0002438	Cerebellar malformation	2263	FGFR2	ORPHA:207
HP:0002438	Cerebellar malformation	2263	FGFR2	ORPHA:93259
HP:0002438	Cerebellar malformation	2263	FGFR2	OMIM:101600
HP:0002438	Cerebellar malformation	2033	EP300	ORPHA:353284
HP:0002438	Cerebellar malformation	6299	SALL1	ORPHA:857
HP:0002438	Cerebellar malformation	51339	DACT1	ORPHA:857
HP:0002438	Cerebellar malformation	6595	SMARCA2	OMIM:619293
HP:0002438	Cerebellar malformation	23387	SIK3	OMIM:618162
HP:0002438	Cerebellar malformation	2261	FGFR3	ORPHA:93262
HP:0002438	Cerebellar malformation	6651	SON	ORPHA:500150
HP:0002438	Cerebellar malformation	1108	CHD4	OMIM:617159
HP:0002438	Cerebellar malformation	7048	TGFBR2	OMIM:610168
HP:0002438	Cerebellar malformation	2077	ERF	ORPHA:207
HP:0002438	Cerebellar malformation	2316	FLNA	ORPHA:1826
HP:0002438	Cerebellar malformation	6885	MAP3K7	ORPHA:1826
HP:0002438	Cerebellar malformation	2776	GNAQ	ORPHA:3205
HP:0002438	Cerebellar malformation	5727	PTCH1	ORPHA:77301
HP:0002438	Cerebellar malformation	1513	CTSK	ORPHA:763
HP:0002438	Cerebellar malformation	9401	RECQL4	OMIM:218600
HP:0002438	Cerebellar malformation	8091	HMGA2	ORPHA:94063
HP:0002438	Cerebellar malformation	23592	LEMD3	ORPHA:94063
HP:0002438	Cerebellar malformation	54903	MKS1	OMIM:249000
HP:0002438	Cerebellar malformation	29072	SETD2	OMIM:616831
HP:0002438	Cerebellar malformation	4854	NOTCH3	ORPHA:2789
HP:0002438	Cerebellar malformation	2260	FGFR1	OMIM:101600
HP:0002438	Cerebellar malformation	7046	TGFBR1	OMIM:609192
HP:0002438	Cerebellar malformation	2200	FBN1	ORPHA:2462
HP:0002438	Cerebellar malformation	6497	SKI	ORPHA:2462
HP:0002438	Cerebellar malformation	4853	NOTCH2	ORPHA:955
HP:0002438	Cerebellar malformation	26834	RNU4-2	OMIM:620851
HP:0002438	Cerebellar malformation	29925	GMPPB	ORPHA:370959
HP:0002438	Cerebellar malformation	84197	POMK	ORPHA:370959
HP:0002438	Cerebellar malformation	55624	POMGNT1	ORPHA:370959
HP:0002438	Cerebellar malformation	55624	POMGNT1	OMIM:613151
HP:0002438	Cerebellar malformation	55624	POMGNT1	OMIM:253280
HP:0002438	Cerebellar malformation	148789	B3GALNT2	OMIM:615181
HP:0002438	Cerebellar malformation	79659	DYNC2H1	OMIM:613091
HP:0002438	Cerebellar malformation	1281	COL3A1	OMIM:618343
HP:0002438	Cerebellar malformation	283989	TSEN54	ORPHA:2524
HP:0002438	Cerebellar malformation	116461	TSEN15	ORPHA:2524
HP:0002438	Cerebellar malformation	79042	TSEN34	ORPHA:2524
HP:0002438	Cerebellar malformation	80746	TSEN2	ORPHA:2524
HP:0002438	Cerebellar malformation	51091	SEPSECS	ORPHA:2524
HP:0002438	Cerebellar malformation	284217	LAMA1	OMIM:615960
HP:0002438	Cerebellar malformation	284217	LAMA1	ORPHA:370022
HP:0002438	Cerebellar malformation	8481	OFD1	OMIM:311200
HP:0002438	Cerebellar malformation	1605	DAG1	OMIM:616538
HP:0002438	Cerebellar malformation	1605	DAG1	ORPHA:370997
HP:0002438	Cerebellar malformation	11340	EXOSC8	ORPHA:2254
HP:0002438	Cerebellar malformation	5393	EXOSC9	ORPHA:2254
HP:0002438	Cerebellar malformation	23287	AGTPBP1	ORPHA:2254
HP:0002438	Cerebellar malformation	51010	EXOSC3	ORPHA:2254
HP:0002438	Cerebellar malformation	51010	EXOSC3	OMIM:614678
HP:0002438	Cerebellar malformation	7443	VRK1	ORPHA:2254
HP:0002438	Cerebellar malformation	91137	SLC25A46	ORPHA:2254
HP:0002438	Cerebellar malformation	729920	CRPPA	ORPHA:370980
HP:0002438	Cerebellar malformation	9361	LONP1	ORPHA:79243
HP:0002438	Cerebellar malformation	5160	PDHA1	ORPHA:79243
HP:0002438	Cerebellar malformation	4519	MT-CYB	ORPHA:137675
HP:0002438	Cerebellar malformation	29954	POMT2	OMIM:236670
HP:0002438	Cerebellar malformation	79147	FKRP	OMIM:236670
HP:0002438	Cerebellar malformation	2218	FKTN	OMIM:236670
HP:0002438	Cerebellar malformation	10585	POMT1	OMIM:236670
HP:0002438	Cerebellar malformation	9215	LARGE1	OMIM:236670
HP:0002438	Cerebellar malformation	4983	OPHN1	OMIM:300486
HP:0002438	Cerebellar malformation	4983	OPHN1	ORPHA:137831
HP:0002438	Cerebellar malformation	5159	PDGFRB	OMIM:601812
HP:0002438	Cerebellar malformation	2892	GRIA3	ORPHA:364028
HP:0002438	Cerebellar malformation	160418	TMTC3	OMIM:617255
HP:0002438	Cerebellar malformation	27245	AHDC1	ORPHA:412069
HP:0002438	Cerebellar malformation	27245	AHDC1	OMIM:615829
HP:0002438	Cerebellar malformation	2911	GRM1	OMIM:614831
HP:0002438	Cerebellar malformation	57688	ZSWIM6	ORPHA:1827
HP:0002438	Cerebellar malformation	57688	ZSWIM6	OMIM:603671
HP:0002438	Cerebellar malformation	57572	DOCK6	OMIM:614219
HP:0002438	Cerebellar malformation	57231	SNX14	ORPHA:397709
HP:0002438	Cerebellar malformation	5251	PHEX	ORPHA:89936
HP:0002438	Cerebellar malformation	5977	DPF2	OMIM:618027
HP:0002438	Cerebellar malformation	6608	SMO	OMIM:601707
HP:0002438	Cerebellar malformation	6608	SMO	OMIM:241800
HP:0002438	Cerebellar malformation	63895	PIEZO2	OMIM:114300
HP:0002438	Cerebellar malformation	148867	SLC30A7	OMIM:620501
HP:0002438	Cerebellar malformation	4774	NFIA	OMIM:613735
HP:0002438	Cerebellar malformation	4774	NFIA	ORPHA:401986
HP:0002438	Cerebellar malformation	80036	TRPM3	OMIM:620224
HP:0002438	Cerebellar malformation	3845	KRAS	OMIM:609942
HP:0002438	Cerebellar malformation	9839	ZEB2	ORPHA:261537
HP:0002438	Cerebellar malformation	9839	ZEB2	ORPHA:261552
HP:0002438	Cerebellar malformation	284058	KANSL1	ORPHA:363965
HP:0002438	Cerebellar malformation	284058	KANSL1	ORPHA:363958
HP:0002438	Cerebellar malformation	4094	MAF	ORPHA:1272
HP:0002438	Cerebellar malformation	4094	MAF	OMIM:601088
HP:0002438	Cerebellar malformation	1436	CSF1R	OMIM:618476
HP:0002438	Cerebellar malformation	3020	H3-3A	OMIM:619720
HP:0002438	Cerebellar malformation	8318	CDC45	OMIM:617063
HP:0002438	Cerebellar malformation	5500	PPP1CB	OMIM:617506
HP:0002438	Cerebellar malformation	9772	TMEM94	OMIM:618316
HP:0002438	Cerebellar malformation	23516	SLC39A14	OMIM:144755
HP:0002438	Cerebellar malformation	51085	MLXIPL	OMIM:194050
HP:0002438	Cerebellar malformation	4841	NONO	ORPHA:466791
HP:0002438	Cerebellar malformation	57551	TAOK1	OMIM:619575
HP:0002438	Cerebellar malformation	10274	STAG1	OMIM:617635
HP:0002438	Cerebellar malformation	4791	NFKB2	OMIM:615577
HP:0002438	Cerebellar malformation	6774	STAT3	ORPHA:2314
HP:0002438	Cerebellar malformation	22943	DKK1	ORPHA:268882
HP:0002438	Cerebellar malformation	79947	DHDDS	OMIM:617836
HP:0002438	Cerebellar malformation	8799	PEX11B	OMIM:614920
HP:0002438	Cerebellar malformation	11145	PLAAT3	OMIM:620683
HP:0002438	Cerebellar malformation	5076	PAX2	OMIM:120330
HP:0002438	Cerebellar malformation	1717	DHCR7	OMIM:270400
HP:0002438	Cerebellar malformation	25970	SH2B1	ORPHA:261197
HP:0002438	Cerebellar malformation	55703	POLR3B	OMIM:619742
HP:0002438	Cerebellar malformation	5888	RAD51	OMIM:617244
HP:0002438	Cerebellar malformation	4858	NOVA2	OMIM:618859
HP:0002438	Cerebellar malformation	27133	KCNH5	OMIM:620537
HP:0002438	Cerebellar malformation	161742	SPRED1	ORPHA:137605
HP:0002438	Cerebellar malformation	3265	HRAS	OMIM:218040
HP:0002438	Cerebellar malformation	26040	SETBP1	ORPHA:798
HP:0002438	Cerebellar malformation	8085	KMT2D	OMIM:147920
HP:0002438	Cerebellar malformation	7403	KDM6A	OMIM:147920
HP:0002438	Cerebellar malformation	84667	HES7	OMIM:613686
HP:0002439	Frontolimbic dementia	4137	MAPT	OMIM:601104
HP:0010989	Abnormality of the intrinsic pathway	29929	ALG6	OMIM:603147
HP:0010989	Abnormality of the intrinsic pathway	29929	ALG6	ORPHA:79320
HP:0010989	Abnormality of the intrinsic pathway	4247	MGAT2	ORPHA:79329
HP:0010989	Abnormality of the intrinsic pathway	4247	MGAT2	OMIM:212066
HP:0010989	Abnormality of the intrinsic pathway	5373	PMM2	ORPHA:79318
HP:0010989	Abnormality of the intrinsic pathway	5373	PMM2	OMIM:212065
HP:0010989	Abnormality of the intrinsic pathway	4351	MPI	ORPHA:79319
HP:0010989	Abnormality of the intrinsic pathway	4351	MPI	OMIM:602579
HP:0010989	Abnormality of the intrinsic pathway	8216	LZTR1	OMIM:616564
HP:0010989	Abnormality of the intrinsic pathway	85365	ALG2	OMIM:607906
HP:0010989	Abnormality of the intrinsic pathway	2542	SLC37A4	OMIM:619525
HP:0010989	Abnormality of the intrinsic pathway	79053	ALG8	OMIM:608104
HP:0010989	Abnormality of the intrinsic pathway	79053	ALG8	ORPHA:79325
HP:0010989	Abnormality of the intrinsic pathway	6654	SOS1	OMIM:610733
HP:0010989	Abnormality of the intrinsic pathway	79796	ALG9	OMIM:608776
HP:0010989	Abnormality of the intrinsic pathway	55768	NGLY1	ORPHA:404454
HP:0010989	Abnormality of the intrinsic pathway	79087	ALG12	ORPHA:79324
HP:0010989	Abnormality of the intrinsic pathway	79644	SRD5A3	ORPHA:324737
HP:0010989	Abnormality of the intrinsic pathway	79644	SRD5A3	OMIM:612379
HP:0010989	Abnormality of the intrinsic pathway	1798	DPAGT1	ORPHA:86309
HP:0010989	Abnormality of the intrinsic pathway	1798	DPAGT1	OMIM:608093
HP:0010989	Abnormality of the intrinsic pathway	191	AHCY	ORPHA:88618
HP:0010989	Abnormality of the intrinsic pathway	8813	DPM1	OMIM:608799
HP:0010989	Abnormality of the intrinsic pathway	8813	DPM1	ORPHA:79322
HP:0010989	Abnormality of the intrinsic pathway	5236	PGM1	OMIM:614921
HP:0010989	Abnormality of the intrinsic pathway	8818	DPM2	ORPHA:329178
HP:0010989	Abnormality of the intrinsic pathway	462	SERPINC1	OMIM:613118
HP:0010989	Abnormality of the intrinsic pathway	462	SERPINC1	ORPHA:82
HP:0010989	Abnormality of the intrinsic pathway	6811	STX5	OMIM:620454
HP:0010989	Abnormality of the intrinsic pathway	2683	B4GALT1	ORPHA:79332
HP:0010989	Abnormality of the intrinsic pathway	2157	F8	OMIM:306700
HP:0010989	Abnormality of the intrinsic pathway	2157	F8	ORPHA:177926
HP:0010989	Abnormality of the intrinsic pathway	2157	F8	ORPHA:169805
HP:0010989	Abnormality of the intrinsic pathway	2157	F8	ORPHA:169802
HP:0010989	Abnormality of the intrinsic pathway	7450	VWF	OMIM:193400
HP:0010989	Abnormality of the intrinsic pathway	7450	VWF	OMIM:277480
HP:0010989	Abnormality of the intrinsic pathway	3998	LMAN1	OMIM:227300
HP:0010989	Abnormality of the intrinsic pathway	3998	LMAN1	ORPHA:35909
HP:0010989	Abnormality of the intrinsic pathway	90411	MCFD2	ORPHA:35909
HP:0010989	Abnormality of the intrinsic pathway	90411	MCFD2	OMIM:613625
HP:0010989	Abnormality of the intrinsic pathway	2161	F12	ORPHA:330
HP:0010989	Abnormality of the intrinsic pathway	2161	F12	OMIM:234000
HP:0010989	Abnormality of the intrinsic pathway	673	BRAF	OMIM:163950
HP:0010989	Abnormality of the intrinsic pathway	5604	MAP2K1	OMIM:163950
HP:0010989	Abnormality of the intrinsic pathway	5781	PTPN11	OMIM:163950
HP:0010989	Abnormality of the intrinsic pathway	3827	KNG1	OMIM:228960
HP:0010989	Abnormality of the intrinsic pathway	23545	ATP6V0A2	ORPHA:2834
HP:0010989	Abnormality of the intrinsic pathway	23545	ATP6V0A2	ORPHA:357074
HP:0010989	Abnormality of the intrinsic pathway	2160	F11	ORPHA:329
HP:0010989	Abnormality of the intrinsic pathway	523	ATP6V1A	ORPHA:357074
HP:0010989	Abnormality of the intrinsic pathway	529	ATP6V1E1	ORPHA:357074
HP:0010989	Abnormality of the intrinsic pathway	2677	GGCX	OMIM:277450
HP:0010989	Abnormality of the intrinsic pathway	2677	GGCX	OMIM:610842
HP:0010989	Abnormality of the intrinsic pathway	2158	F9	OMIM:306900
HP:0010989	Abnormality of the intrinsic pathway	79001	VKORC1	OMIM:607473
HP:0010989	Abnormality of the intrinsic pathway	7058	THBS2	OMIM:620865
HP:0006070	Metacarpophalangeal joint contracture	171023	ASXL1	ORPHA:97297
HP:0006070	Metacarpophalangeal joint contracture	11342	RNF13	ORPHA:544503
HP:0006070	Metacarpophalangeal joint contracture	2316	FLNA	ORPHA:1826
HP:0006070	Metacarpophalangeal joint contracture	6885	MAP3K7	ORPHA:1826
HP:0006070	Metacarpophalangeal joint contracture	29895	MYL11	OMIM:619110
HP:0003083	Dislocated radial head	11285	B4GALT7	OMIM:130070
HP:0003083	Dislocated radial head	1182	CLCN3	OMIM:619512
HP:0003083	Dislocated radial head	85301	COL27A1	OMIM:615155
HP:0003083	Dislocated radial head	2033	EP300	OMIM:180849
HP:0003083	Dislocated radial head	1387	CREBBP	OMIM:180849
HP:0003083	Dislocated radial head	4010	LMX1B	ORPHA:2614
HP:0003083	Dislocated radial head	6885	MAP3K7	OMIM:617137
HP:0003083	Dislocated radial head	6885	MAP3K7	ORPHA:1826
HP:0003083	Dislocated radial head	90459	ERI1	OMIM:620663
HP:0003083	Dislocated radial head	145258	GSC	OMIM:602471
HP:0003083	Dislocated radial head	10847	SRCAP	OMIM:136140
HP:0003083	Dislocated radial head	10847	SRCAP	ORPHA:2044
HP:0003083	Dislocated radial head	91179	SCARF2	OMIM:600920
HP:0003083	Dislocated radial head	8318	CDC45	OMIM:617063
HP:0003083	Dislocated radial head	23233	EXOC6B	OMIM:618395
HP:0003083	Dislocated radial head	2137	EXTL3	OMIM:617425
HP:0003083	Dislocated radial head	6662	SOX9	OMIM:114290
HP:0003083	Dislocated radial head	10225	CD96	OMIM:211750
HP:0003083	Dislocated radial head	10225	CD96	ORPHA:1308
HP:0003083	Dislocated radial head	2067	ERCC1	OMIM:610758
HP:0003083	Dislocated radial head	126792	B3GALT6	OMIM:271640
HP:0003083	Dislocated radial head	2535	FZD2	OMIM:164745
HP:0003083	Dislocated radial head	4920	ROR2	OMIM:268310
HP:0003083	Dislocated radial head	1146	CHRNG	OMIM:265000
HP:0003083	Dislocated radial head	6497	SKI	OMIM:182212
HP:0003083	Dislocated radial head	2316	FLNA	OMIM:305620
HP:0003083	Dislocated radial head	2316	FLNA	ORPHA:1826
HP:0003083	Dislocated radial head	2316	FLNA	OMIM:311300
HP:0003083	Dislocated radial head	3835	KIF22	OMIM:603546
HP:0003083	Dislocated radial head	57492	ARID1B	OMIM:135900
HP:0003083	Dislocated radial head	3899	AFF3	OMIM:619297
HP:0003083	Dislocated radial head	9469	CHST3	OMIM:143095
HP:0003083	Dislocated radial head	9469	CHST3	OMIM:245600
HP:0003083	Dislocated radial head	4853	NOTCH2	OMIM:102500
HP:0003083	Dislocated radial head	25836	NIPBL	OMIM:122470
HP:0003083	Dislocated radial head	100151683	RNU4ATAC	ORPHA:1824
HP:0003083	Dislocated radial head	7474	WNT5A	OMIM:180700
HP:0003083	Dislocated radial head	1855	DVL1	OMIM:180700
HP:0003083	Dislocated radial head	9241	NOG	OMIM:186500
HP:0003083	Dislocated radial head	1277	COL1A1	ORPHA:287
HP:0003083	Dislocated radial head	1289	COL5A1	ORPHA:287
HP:0003083	Dislocated radial head	1290	COL5A2	ORPHA:287
HP:0003083	Dislocated radial head	26229	B3GAT3	OMIM:245600
HP:0003083	Dislocated radial head	3897	L1CAM	OMIM:304100
HP:0003083	Dislocated radial head	171023	ASXL1	OMIM:605039
HP:0003083	Dislocated radial head	6913	TBX15	OMIM:260660
HP:0003083	Dislocated radial head	91252	SLC39A13	OMIM:612350
HP:0003083	Dislocated radial head	545	ATR	OMIM:210600
HP:0003083	Dislocated radial head	649	BMP1	OMIM:614856
HP:0003083	Dislocated radial head	29980	DONSON	OMIM:617604
HP:0003083	Dislocated radial head	5573	PRKAR1A	OMIM:101800
HP:0003083	Dislocated radial head	10082	GPC6	OMIM:258315
HP:0003083	Dislocated radial head	387733	IFITM5	OMIM:610967
HP:0003083	Dislocated radial head	6473	SHOX	ORPHA:314795
HP:0006492	Aplasia/Hypoplasia of the fibula	139285	AMER1	OMIM:300373
HP:0006492	Aplasia/Hypoplasia of the fibula	64327	LMBR1	OMIM:200500
HP:0006492	Aplasia/Hypoplasia of the fibula	64327	LMBR1	ORPHA:931
HP:0006492	Aplasia/Hypoplasia of the fibula	6913	TBX15	OMIM:260660
HP:0006492	Aplasia/Hypoplasia of the fibula	65250	CPLANE1	OMIM:277170
HP:0006492	Aplasia/Hypoplasia of the fibula	9939	RBM8A	ORPHA:3320
HP:0006492	Aplasia/Hypoplasia of the fibula	9939	RBM8A	OMIM:274000
HP:0006492	Aplasia/Hypoplasia of the fibula	2316	FLNA	ORPHA:90652
HP:0006492	Aplasia/Hypoplasia of the fibula	2535	FZD2	OMIM:164745
HP:0006492	Aplasia/Hypoplasia of the fibula	79659	DYNC2H1	OMIM:613091
HP:0006492	Aplasia/Hypoplasia of the fibula	153241	CEP120	OMIM:616300
HP:0006492	Aplasia/Hypoplasia of the fibula	3899	AFF3	OMIM:619297
HP:0006492	Aplasia/Hypoplasia of the fibula	10082	GPC6	OMIM:258315
HP:0006492	Aplasia/Hypoplasia of the fibula	727857	BHLHA9	ORPHA:3329
HP:0006492	Aplasia/Hypoplasia of the fibula	3636	INPPL1	ORPHA:3144
HP:0006492	Aplasia/Hypoplasia of the fibula	23169	SLC35D1	ORPHA:3144
HP:0006492	Aplasia/Hypoplasia of the fibula	55764	IFT122	OMIM:218330
HP:0006492	Aplasia/Hypoplasia of the fibula	10262	SF3B4	ORPHA:1788
HP:0006492	Aplasia/Hypoplasia of the fibula	64093	SMOC1	ORPHA:1106
HP:0006492	Aplasia/Hypoplasia of the fibula	64093	SMOC1	OMIM:206920
HP:0006492	Aplasia/Hypoplasia of the fibula	5745	PTH1R	ORPHA:79106
HP:0006492	Aplasia/Hypoplasia of the fibula	5745	PTH1R	OMIM:600002
HP:0006492	Aplasia/Hypoplasia of the fibula	27125	AFF4	ORPHA:444077
HP:0006492	Aplasia/Hypoplasia of the fibula	6662	SOX9	ORPHA:140
HP:0006492	Aplasia/Hypoplasia of the fibula	6662	SOX9	OMIM:114290
HP:0006492	Aplasia/Hypoplasia of the fibula	9775	EIF4A3	OMIM:268305
HP:0006492	Aplasia/Hypoplasia of the fibula	1301	COL11A1	OMIM:228520
HP:0006492	Aplasia/Hypoplasia of the fibula	27152	INTU	OMIM:617925
HP:0006492	Aplasia/Hypoplasia of the fibula	4233	MET	OMIM:607278
HP:0006492	Aplasia/Hypoplasia of the fibula	545	ATR	OMIM:210600
HP:0006492	Aplasia/Hypoplasia of the fibula	25839	COG4	OMIM:618150
HP:0006492	Aplasia/Hypoplasia of the fibula	8200	GDF5	ORPHA:2639
HP:0006492	Aplasia/Hypoplasia of the fibula	658	BMPR1B	ORPHA:2639
HP:0006492	Aplasia/Hypoplasia of the fibula	2317	FLNB	ORPHA:1263
HP:0006492	Aplasia/Hypoplasia of the fibula	7476	WNT7A	OMIM:228930
HP:0006492	Aplasia/Hypoplasia of the fibula	6473	SHOX	ORPHA:2632
HP:0005671	Bilateral intracerebral calcifications	1893	ECM1	OMIM:247100
HP:0010241	Short proximal phalanx of finger	1280	COL2A1	OMIM:271700
HP:0010241	Short proximal phalanx of finger	8200	GDF5	OMIM:201250
HP:0010241	Short proximal phalanx of finger	56992	KIF15	ORPHA:261323
HP:0010241	Short proximal phalanx of finger	2261	FGFR3	ORPHA:15
HP:0010241	Short proximal phalanx of finger	2475	MTOR	OMIM:616638
HP:0010241	Short proximal phalanx of finger	3549	IHH	OMIM:607778
HP:0010241	Short proximal phalanx of finger	658	BMPR1B	OMIM:616849
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	10682	EBP	ORPHA:401973
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	10682	EBP	OMIM:300960
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	10682	EBP	OMIM:302960
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	56896	DPYSL5	OMIM:619435
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	56896	DPYSL5	ORPHA:7
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	3265	HRAS	ORPHA:2612
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	3845	KRAS	ORPHA:2612
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	3845	KRAS	OMIM:609942
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	4893	NRAS	ORPHA:2612
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	4893	NRAS	OMIM:249400
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	7355	SLC35A2	ORPHA:356961
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	7545	ZIC1	OMIM:616602
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	7545	ZIC1	OMIM:618736
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	84942	WDR73	OMIM:251300
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	2737	GLI3	ORPHA:36
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	57465	TBC1D24	OMIM:220500
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	57465	TBC1D24	ORPHA:79500
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	55112	DYNC2I1	ORPHA:93271
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	57560	IFT80	ORPHA:93271
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	57539	WDR35	ORPHA:93271
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	79659	DYNC2H1	ORPHA:93271
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	89891	DYNC2I2	ORPHA:93271
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1436	CSF1R	OMIM:618476
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	84162	BLTP1	OMIM:617822
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	55636	CHD7	ORPHA:138
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9723	SEMA3E	ORPHA:138
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	2218	FKTN	OMIM:236670
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	2218	FKTN	ORPHA:899
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	84892	POMGNT2	ORPHA:899
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	148789	B3GALNT2	ORPHA:899
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1282	COL4A1	ORPHA:899
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	729920	CRPPA	ORPHA:899
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	729920	CRPPA	OMIM:614643
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	10329	RXYLT1	ORPHA:899
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	84197	POMK	ORPHA:899
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	55624	POMGNT1	ORPHA:899
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	79068	FTO	OMIM:612938
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	57492	ARID1B	OMIM:135900
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	57492	ARID1B	ORPHA:1465
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	3899	AFF3	OMIM:619297
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	25885	POLR1A	OMIM:616462
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	6597	SMARCA4	ORPHA:1465
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	6597	SMARCA4	OMIM:614609
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	6598	SMARCB1	ORPHA:1465
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	6598	SMARCB1	OMIM:614608
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	6659	SOX4	ORPHA:1465
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	8289	ARID1A	ORPHA:1465
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	8289	ARID1A	OMIM:614607
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	5977	DPF2	ORPHA:1465
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	6601	SMARCC2	ORPHA:1465
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	6602	SMARCD1	ORPHA:1465
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	196528	ARID2	ORPHA:1465
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	6605	SMARCE1	ORPHA:1465
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	6605	SMARCE1	OMIM:616938
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	6664	SOX11	ORPHA:1465
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	27315	PGAP2	OMIM:614207
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	157570	ESCO2	ORPHA:2319
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	5340	PLG	ORPHA:722
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	5340	PLG	OMIM:217090
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1717	DHCR7	OMIM:270400
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	84314	TMEM107	ORPHA:564
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	79770	TXNDC15	ORPHA:564
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	27031	NPHP3	OMIM:267010
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	27031	NPHP3	OMIM:208540
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	27031	NPHP3	ORPHA:3032
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	171023	ASXL1	ORPHA:97297
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	171023	ASXL1	OMIM:605039
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9184	BUB3	ORPHA:1052
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	699	BUB1	ORPHA:1052
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9702	CEP57	ORPHA:1052
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9319	TRIP13	ORPHA:1052
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	701	BUB1B	ORPHA:1052
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	701	BUB1B	OMIM:257300
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	84188	FAR1	ORPHA:438178
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	84188	FAR1	OMIM:616154
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	2260	FGFR1	OMIM:613001
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	2683	B4GALT1	OMIM:607091
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	2683	B4GALT1	ORPHA:79332
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	26227	PHGDH	OMIM:256520
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	55605	KIF21A	ORPHA:994
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	4927	NUP88	ORPHA:994
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	4654	MYOD1	ORPHA:994
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	54551	MAGEL2	ORPHA:994
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	4593	MUSK	ORPHA:994
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	5913	RAPSN	ORPHA:994
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	6572	SLC18A3	ORPHA:994
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	285489	DOK7	ORPHA:994
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	23126	POGZ	OMIM:616364
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	7737	RNF113A	OMIM:300953
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	998	CDC42	ORPHA:487796
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	11128	POLR3A	OMIM:264090
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	4534	MTM1	OMIM:310400
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	526	ATP6V1B2	ORPHA:79500
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	54880	BCOR	OMIM:300166
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	55640	FLVCR2	OMIM:225790
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	28952	CCDC22	OMIM:300963
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	28952	CCDC22	ORPHA:7
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1654	DDX3X	ORPHA:3338
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	5500	PPP1CB	OMIM:617506
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	54676	GTPBP2	OMIM:617988
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	63895	PIEZO2	OMIM:248700
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9897	WASHC5	OMIM:220210
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9897	WASHC5	ORPHA:7
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	132884	EVC2	OMIM:225500
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	2121	EVC	OMIM:225500
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	523	ATP6V1A	ORPHA:357074
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	529	ATP6V1E1	ORPHA:357074
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	3798	KIF5A	OMIM:617235
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1028	CDKN1C	OMIM:130650
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	3481	IGF2	OMIM:130650
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	3784	KCNQ1	OMIM:130650
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	10984	KCNQ1OT1	OMIM:130650
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	10195	ALG3	ORPHA:79321
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	27183	VPS4A	OMIM:619273
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	10128	LRPPRC	OMIM:220111
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	3912	LAMB1	OMIM:615191
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	54892	NCAPG2	OMIM:618460
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	60529	ALX4	OMIM:613451
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	4750	NEK1	OMIM:263520
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	23241	PACS2	OMIM:618067
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	100151683	RNU4ATAC	OMIM:210710
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	26160	IFT172	OMIM:615630
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	6091	ROBO1	OMIM:620305
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	2355	FOSL2	OMIM:620789
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	65062	TMEM237	OMIM:614424
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	65062	TMEM237	ORPHA:220497
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	65062	TMEM237	ORPHA:2318
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	65062	TMEM237	ORPHA:475
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	51117	COQ4	OMIM:620666
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	55733	HHAT	OMIM:600092
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	56623	INPP5E	OMIM:213300
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	56623	INPP5E	ORPHA:220493
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	56623	INPP5E	ORPHA:1454
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	56623	INPP5E	ORPHA:475
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	84320	ACBD6	OMIM:620785
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	8496	PPFIBP1	OMIM:620024
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1605	DAG1	ORPHA:370997
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1605	DAG1	OMIM:616538
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	4867	NPHP1	OMIM:609583
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	4867	NPHP1	ORPHA:220497
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	64324	NSD1	ORPHA:821
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	10297	APC2	ORPHA:821
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	79848	CSPP1	ORPHA:397715
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	79848	CSPP1	ORPHA:475
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9786	KIAA0586	ORPHA:397715
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9786	KIAA0586	ORPHA:475
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9786	KIAA0586	OMIM:616546
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	128869	PIGU	OMIM:618590
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9578	CDC42BPB	OMIM:619841
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	3020	H3-3A	OMIM:619720
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	219854	TMEM218	OMIM:619562
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	219854	TMEM218	ORPHA:475
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	473	RERE	OMIM:616975
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	473	RERE	ORPHA:494344
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	23322	RPGRIP1L	ORPHA:220497
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	23322	RPGRIP1L	ORPHA:1454
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	7280	TUBB2A	OMIM:615763
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	79644	SRD5A3	OMIM:612379
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	54806	AHI1	ORPHA:220493
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	54806	AHI1	OMIM:608629
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	54806	AHI1	ORPHA:475
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	153241	CEP120	ORPHA:220493
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	153241	CEP120	ORPHA:475
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	54903	MKS1	ORPHA:220493
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	54903	MKS1	ORPHA:475
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	95681	CEP41	ORPHA:220493
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	95681	CEP41	ORPHA:475
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	29968	PSAT1	OMIM:610992
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	29968	PSAT1	ORPHA:284417
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	10501	SEMA6B	OMIM:618876
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	57082	KNL1	OMIM:604321
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	7846	TUBA1A	OMIM:611603
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	7846	TUBA1A	ORPHA:467166
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	7846	TUBA1A	ORPHA:171680
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9382	COG1	OMIM:611209
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9382	COG1	ORPHA:263508
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	29925	GMPPB	ORPHA:370968
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	79147	FKRP	ORPHA:370968
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	29954	POMT2	ORPHA:370968
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	29954	POMT2	OMIM:613156
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9215	LARGE1	ORPHA:370968
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	10585	POMT1	ORPHA:370968
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	10585	POMT1	OMIM:613155
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	55777	MBD5	OMIM:156200
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	347733	TUBB2B	ORPHA:467166
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	347733	TUBB2B	OMIM:610031
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	10381	TUBB3	ORPHA:467166
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	10381	TUBB3	ORPHA:300570
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	22930	RAB3GAP1	OMIM:600118
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	22930	RAB3GAP1	ORPHA:2510
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	203068	TUBB	OMIM:615771
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	23545	ATP6V0A2	ORPHA:2834
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1778	DYNC1H1	OMIM:614563
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	23090	ZNF423	OMIM:614844
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	23090	ZNF423	ORPHA:2318
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1801	DPH1	OMIM:616901
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1801	DPH1	ORPHA:459061
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	80746	TSEN2	OMIM:612389
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	80746	TSEN2	ORPHA:2524
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	22897	CEP164	OMIM:614845
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	54974	THG1L	OMIM:618800
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	93627	TBCK	OMIM:616900
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1063	CENPF	OMIM:243605
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	79583	TMEM231	ORPHA:2318
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	79583	TMEM231	ORPHA:2754
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	51524	TMEM138	ORPHA:2318
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	51259	TMEM216	ORPHA:2318
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	51259	TMEM216	ORPHA:2754
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	57545	CC2D2A	ORPHA:2318
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	57545	CC2D2A	ORPHA:1454
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	57545	CC2D2A	OMIM:619111
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	23116	TOGARAM1	OMIM:619185
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	23116	TOGARAM1	ORPHA:475
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	7703	PCGF2	OMIM:618371
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	80856	LNPK	OMIM:618090
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	23258	DENND5A	OMIM:617281
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	26278	SACS	ORPHA:98
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9839	ZEB2	ORPHA:261552
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9839	ZEB2	ORPHA:261537
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	79600	TCTN1	OMIM:614173
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	79600	TCTN1	ORPHA:475
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	79042	TSEN34	OMIM:612390
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	79042	TSEN34	ORPHA:2524
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	127833	SYT2	OMIM:619461
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1822	ATN1	OMIM:618494
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	8550	MAPKAPK5	OMIM:619869
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	545	ATR	OMIM:210600
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	10352	WARS2	ORPHA:572798
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	26005	C2CD3	OMIM:615948
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1974	EIF4A2	OMIM:620455
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	492	ATP2B3	ORPHA:314978
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	60386	SLC25A19	ORPHA:99742
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	60386	SLC25A19	OMIM:607196
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	6874	TAF4	OMIM:620450
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	5373	PMM2	OMIM:212065
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	5373	PMM2	ORPHA:79318
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	64864	RFX7	OMIM:620330
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	2296	FOXC1	OMIM:602482
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	2296	FOXC1	OMIM:601631
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	8241	RBM10	OMIM:311900
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	59336	PRDM13	OMIM:619909
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9851	KIAA0753	ORPHA:475
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9851	KIAA0753	OMIM:619476
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9851	KIAA0753	ORPHA:2754
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9851	KIAA0753	OMIM:617127
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	5147	PDE6D	ORPHA:475
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	5147	PDE6D	ORPHA:2754
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	8481	OFD1	ORPHA:475
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	8481	OFD1	OMIM:300804
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	8481	OFD1	ORPHA:2754
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	51684	SUFU	ORPHA:475
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	65250	CPLANE1	ORPHA:475
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	65250	CPLANE1	OMIM:277170
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	65250	CPLANE1	ORPHA:2754
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	200894	ARL13B	ORPHA:475
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9731	CEP104	ORPHA:475
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	219844	HYLS1	ORPHA:475
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	23247	KATNIP	ORPHA:475
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	23247	KATNIP	OMIM:616784
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	26123	TCTN3	ORPHA:475
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	26123	TCTN3	ORPHA:2754
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	79867	TCTN2	ORPHA:475
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	80776	B9D2	ORPHA:475
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	10464	PIBF1	ORPHA:475
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	80210	ARMC9	ORPHA:475
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	25776	CBY1	ORPHA:475
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	27077	B9D1	ORPHA:475
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	403	ARL3	ORPHA:475
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	403	ARL3	OMIM:618161
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	80173	IFT74	ORPHA:475
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	10804	GJB6	ORPHA:477
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	2706	GJB2	ORPHA:477
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	2615	LRRC32	OMIM:619074
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	4352	MPL	OMIM:604498
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	11340	EXOSC8	OMIM:616081
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	253738	EBF3	OMIM:617330
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	57187	THOC2	OMIM:300957
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	2892	GRIA3	ORPHA:364028
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	56006	SMG9	OMIM:616920
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	163786	SASS6	OMIM:616402
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	55280	CWF19L1	OMIM:616127
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	55280	CWF19L1	ORPHA:453521
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	29957	SLC25A24	OMIM:612289
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	4361	MRE11	ORPHA:251347
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	8239	USP9X	ORPHA:480880
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	51692	CPSF3	OMIM:619876
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9289	ADGRG1	ORPHA:98889
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9289	ADGRG1	ORPHA:101070
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	5297	PI4KA	ORPHA:98889
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	5297	PI4KA	OMIM:616531
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	27286	SRPX2	ORPHA:98889
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	5728	PTEN	ORPHA:101070
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	10236	HNRNPR	OMIM:620073
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	51611	DPH5	OMIM:620070
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	6872	TAF1	OMIM:300966
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	22983	MAST1	OMIM:618273
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	2232	FDXR	ORPHA:543470
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	90416	CCDC32	OMIM:619123
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	283989	TSEN54	ORPHA:2524
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	116461	TSEN15	ORPHA:2524
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	51091	SEPSECS	ORPHA:2524
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	284217	LAMA1	OMIM:615960
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	5591	PRKDC	OMIM:615966
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	57038	RARS2	OMIM:611523
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	54499	TMCO1	ORPHA:1394
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	79971	WLS	OMIM:619648
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	79633	FAT4	ORPHA:314679
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	8642	DCHS1	ORPHA:314679
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	55691	FRMD4A	OMIM:616819
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	55691	FRMD4A	ORPHA:466688
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	3187	HNRNPH1	OMIM:620083
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	57724	EPG5	OMIM:242840
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	57020	VPS35L	OMIM:619135
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	4081	MAB21L1	ORPHA:495875
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	4123	MAN2C1	OMIM:619775
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	5879	RAC1	OMIM:617751
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	440	ASNS	OMIM:615574
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	26047	CNTNAP2	OMIM:610042
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	738	VPS51	OMIM:618606
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	23499	MACF1	OMIM:618325
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	2806	GOT2	OMIM:618721
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	79645	CLXN	OMIM:620642
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	3954	LETM1	OMIM:620089
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	84081	NSRP1	OMIM:620001
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	5048	PAFAH1B1	ORPHA:95232
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9939	RBM8A	OMIM:274000
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	22931	RAB18	ORPHA:2510
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	128637	TBC1D20	ORPHA:2510
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	10079	ATP9A	OMIM:620242
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1376	CPT2	ORPHA:228308
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	10210	TOPORS	ORPHA:2754
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	317662	FAM149B1	ORPHA:2754
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	374654	KIF7	ORPHA:2754
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9896	FIG4	OMIM:216340
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	23299	BICD2	OMIM:618291
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	129285	PPP1R21	OMIM:619383
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	79023	NUP37	OMIM:618179
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	8295	TRRAP	OMIM:618454
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9181	ARHGEF2	OMIM:617523
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	221078	NSUN6	OMIM:620779
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	2719	GPC3	OMIM:312870
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	2239	GPC4	OMIM:312870
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	5908	RAP1B	OMIM:620654
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	55770	EXOC2	OMIM:619306
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9230	RAB11B	OMIM:617807
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	8905	AP1S2	OMIM:304340
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1802	DPH2	ORPHA:459061
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	80816	ASXL3	ORPHA:352577
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	4208	MEF2C	ORPHA:228384
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	3839	KPNA3	OMIM:620106
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	256297	PTF1A	OMIM:609069
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	7020	TFAP2A	OMIM:113620
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	11041	B4GAT1	OMIM:615287
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	84342	COG8	OMIM:611182
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9928	KIF14	OMIM:616258
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	4598	MVK	OMIM:610377
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	3145	HMBS	OMIM:620704
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	55690	PACS1	ORPHA:329224
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	23556	PIGN	ORPHA:280633
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	23007	PLCH1	OMIM:619895
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	25782	RAB3GAP2	ORPHA:401830
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	91147	TMEM67	OMIM:216360
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	3769	KCNJ13	ORPHA:65
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	343035	RD3	ORPHA:65
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	145226	RDH12	ORPHA:65
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	1406	CRX	ORPHA:65
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	64802	NMNAT1	ORPHA:65
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	57096	RPGRIP1	ORPHA:65
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	80184	CEP290	ORPHA:65
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	80184	CEP290	OMIM:610188
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	80184	CEP290	OMIM:610189
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	10383	TUBB4B	ORPHA:65
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9742	IFT140	ORPHA:65
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	85015	USP45	ORPHA:65
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	6121	RPE65	ORPHA:65
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	23418	CRB1	ORPHA:65
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	5130	PCYT1A	ORPHA:65
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9657	IQCB1	ORPHA:65
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	392255	GDF6	ORPHA:65
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	23746	AIPL1	ORPHA:65
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	3000	GUCY2D	ORPHA:65
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	9227	LRAT	ORPHA:65
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	55812	SPATA7	ORPHA:65
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	7287	TULP1	ORPHA:65
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	167691	LCA5	ORPHA:65
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	3614	IMPDH1	ORPHA:65
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	80055	PGAP1	ORPHA:401820
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	4281	MID1	ORPHA:2745
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	4983	OPHN1	ORPHA:137831
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	95	ACY1	ORPHA:137754
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	3708	ITPR1	OMIM:117360
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	124997	WDR81	OMIM:610185
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	3897	L1CAM	OMIM:304100
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	2972	BRF1	ORPHA:444072
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	652	BMP4	OMIM:607932
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	652	BMP4	ORPHA:139471
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	83696	TRAPPC9	OMIM:613192
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	26173	INTS1	OMIM:618571
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	4190	MDH1	OMIM:618959
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	7436	VLDLR	OMIM:224050
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	50628	GEMIN4	OMIM:617913
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	400569	MED11	OMIM:620327
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	2911	GRM1	OMIM:614831
HP:0002119	Ventriculomegaly	65062	TMEM237	OMIM:614424
HP:0002119	Ventriculomegaly	65062	TMEM237	ORPHA:564
HP:0002119	Ventriculomegaly	4081	MAB21L1	OMIM:618479
HP:0002119	Ventriculomegaly	4081	MAB21L1	ORPHA:495875
HP:0002119	Ventriculomegaly	55636	CHD7	ORPHA:138
HP:0002119	Ventriculomegaly	9723	SEMA3E	ORPHA:138
HP:0002119	Ventriculomegaly	79068	FTO	OMIM:612938
HP:0002119	Ventriculomegaly	6597	SMARCA4	ORPHA:1465
HP:0002119	Ventriculomegaly	6597	SMARCA4	OMIM:614609
HP:0002119	Ventriculomegaly	6598	SMARCB1	ORPHA:1465
HP:0002119	Ventriculomegaly	6598	SMARCB1	OMIM:614608
HP:0002119	Ventriculomegaly	6659	SOX4	ORPHA:1465
HP:0002119	Ventriculomegaly	8289	ARID1A	ORPHA:1465
HP:0002119	Ventriculomegaly	8289	ARID1A	OMIM:614607
HP:0002119	Ventriculomegaly	5977	DPF2	ORPHA:1465
HP:0002119	Ventriculomegaly	6601	SMARCC2	ORPHA:1465
HP:0002119	Ventriculomegaly	6602	SMARCD1	ORPHA:1465
HP:0002119	Ventriculomegaly	196528	ARID2	ORPHA:1465
HP:0002119	Ventriculomegaly	6605	SMARCE1	ORPHA:1465
HP:0002119	Ventriculomegaly	6605	SMARCE1	OMIM:616938
HP:0002119	Ventriculomegaly	6664	SOX11	ORPHA:1465
HP:0002119	Ventriculomegaly	23545	ATP6V0A2	ORPHA:2834
HP:0002119	Ventriculomegaly	23545	ATP6V0A2	OMIM:219200
HP:0002119	Ventriculomegaly	23545	ATP6V0A2	ORPHA:357074
HP:0002119	Ventriculomegaly	1801	DPH1	OMIM:616901
HP:0002119	Ventriculomegaly	1801	DPH1	ORPHA:459061
HP:0002119	Ventriculomegaly	27315	PGAP2	OMIM:614207
HP:0002119	Ventriculomegaly	157570	ESCO2	ORPHA:2319
HP:0002119	Ventriculomegaly	26123	TCTN3	ORPHA:564
HP:0002119	Ventriculomegaly	79867	TCTN2	ORPHA:564
HP:0002119	Ventriculomegaly	79600	TCTN1	ORPHA:564
HP:0002119	Ventriculomegaly	57096	RPGRIP1	ORPHA:564
HP:0002119	Ventriculomegaly	80184	CEP290	ORPHA:564
HP:0002119	Ventriculomegaly	80184	CEP290	OMIM:611134
HP:0002119	Ventriculomegaly	79583	TMEM231	ORPHA:564
HP:0002119	Ventriculomegaly	79770	TXNDC15	ORPHA:564
HP:0002119	Ventriculomegaly	27077	B9D1	ORPHA:564
HP:0002119	Ventriculomegaly	23322	RPGRIP1L	ORPHA:564
HP:0002119	Ventriculomegaly	27031	NPHP3	OMIM:267010
HP:0002119	Ventriculomegaly	27031	NPHP3	OMIM:208540
HP:0002119	Ventriculomegaly	27031	NPHP3	ORPHA:3032
HP:0002119	Ventriculomegaly	84188	FAR1	ORPHA:438178
HP:0002119	Ventriculomegaly	84188	FAR1	OMIM:616154
HP:0002119	Ventriculomegaly	2683	B4GALT1	OMIM:607091
HP:0002119	Ventriculomegaly	2683	B4GALT1	ORPHA:79332
HP:0002119	Ventriculomegaly	10804	GJB6	ORPHA:477
HP:0002119	Ventriculomegaly	2706	GJB2	ORPHA:477
HP:0002119	Ventriculomegaly	55605	KIF21A	ORPHA:994
HP:0002119	Ventriculomegaly	4927	NUP88	ORPHA:994
HP:0002119	Ventriculomegaly	4654	MYOD1	ORPHA:994
HP:0002119	Ventriculomegaly	4593	MUSK	ORPHA:994
HP:0002119	Ventriculomegaly	5913	RAPSN	ORPHA:994
HP:0002119	Ventriculomegaly	6572	SLC18A3	ORPHA:994
HP:0002119	Ventriculomegaly	285489	DOK7	ORPHA:994
HP:0002119	Ventriculomegaly	51524	TMEM138	OMIM:614465
HP:0002119	Ventriculomegaly	11128	POLR3A	OMIM:264090
HP:0002119	Ventriculomegaly	4534	MTM1	OMIM:310400
HP:0002119	Ventriculomegaly	526	ATP6V1B2	ORPHA:79500
HP:0002119	Ventriculomegaly	54880	BCOR	OMIM:300166
HP:0002119	Ventriculomegaly	5500	PPP1CB	OMIM:617506
HP:0002119	Ventriculomegaly	54676	GTPBP2	OMIM:617988
HP:0002119	Ventriculomegaly	63895	PIEZO2	OMIM:248700
HP:0002119	Ventriculomegaly	2239	GPC4	ORPHA:373
HP:0002119	Ventriculomegaly	2719	GPC3	ORPHA:373
HP:0002119	Ventriculomegaly	132884	EVC2	OMIM:225500
HP:0002119	Ventriculomegaly	2121	EVC	OMIM:225500
HP:0002119	Ventriculomegaly	529	ATP6V1E1	ORPHA:357074
HP:0002119	Ventriculomegaly	3798	KIF5A	OMIM:617235
HP:0002119	Ventriculomegaly	1028	CDKN1C	OMIM:130650
HP:0002119	Ventriculomegaly	3481	IGF2	OMIM:130650
HP:0002119	Ventriculomegaly	3784	KCNQ1	OMIM:130650
HP:0002119	Ventriculomegaly	10984	KCNQ1OT1	OMIM:130650
HP:0002119	Ventriculomegaly	10195	ALG3	ORPHA:79321
HP:0002119	Ventriculomegaly	219844	HYLS1	OMIM:236680
HP:0002119	Ventriculomegaly	1802	DPH2	ORPHA:459061
HP:0002119	Ventriculomegaly	2137	EXTL3	ORPHA:508533
HP:0002119	Ventriculomegaly	1718	DHCR24	OMIM:602398
HP:0002119	Ventriculomegaly	1718	DHCR24	ORPHA:35107
HP:0002119	Ventriculomegaly	7528	YY1	ORPHA:506358
HP:0002119	Ventriculomegaly	29899	GPSM2	OMIM:604213
HP:0002119	Ventriculomegaly	2218	FKTN	ORPHA:272
HP:0002119	Ventriculomegaly	2218	FKTN	OMIM:236670
HP:0002119	Ventriculomegaly	2218	FKTN	ORPHA:899
HP:0002119	Ventriculomegaly	2218	FKTN	ORPHA:370980
HP:0002119	Ventriculomegaly	4524	MTHFR	ORPHA:395
HP:0002119	Ventriculomegaly	23394	ADNP	ORPHA:404448
HP:0002119	Ventriculomegaly	23394	ADNP	OMIM:615873
HP:0002119	Ventriculomegaly	26235	FBXL4	OMIM:615471
HP:0002119	Ventriculomegaly	4099	MAG	OMIM:616680
HP:0002119	Ventriculomegaly	1763	DNA2	OMIM:620819
HP:0002119	Ventriculomegaly	55823	VPS11	OMIM:616683
HP:0002119	Ventriculomegaly	55823	VPS11	ORPHA:466934
HP:0002119	Ventriculomegaly	3265	HRAS	ORPHA:2612
HP:0002119	Ventriculomegaly	3265	HRAS	OMIM:218040
HP:0002119	Ventriculomegaly	3845	KRAS	ORPHA:2612
HP:0002119	Ventriculomegaly	3845	KRAS	ORPHA:2396
HP:0002119	Ventriculomegaly	4893	NRAS	ORPHA:2612
HP:0002119	Ventriculomegaly	2972	BRF1	OMIM:616202
HP:0002119	Ventriculomegaly	2972	BRF1	ORPHA:444072
HP:0002119	Ventriculomegaly	4897	NRCAM	OMIM:619833
HP:0002119	Ventriculomegaly	81857	MED25	OMIM:616449
HP:0002119	Ventriculomegaly	22800	RRAS2	OMIM:618624
HP:0002119	Ventriculomegaly	3008	H1-4	OMIM:617537
HP:0002119	Ventriculomegaly	2720	GLB1	OMIM:230600
HP:0002119	Ventriculomegaly	2720	GLB1	OMIM:230650
HP:0002119	Ventriculomegaly	84942	WDR73	OMIM:251300
HP:0002119	Ventriculomegaly	1788	DNMT3A	ORPHA:404443
HP:0002119	Ventriculomegaly	1788	DNMT3A	OMIM:615879
HP:0002119	Ventriculomegaly	79848	CSPP1	ORPHA:397715
HP:0002119	Ventriculomegaly	9786	KIAA0586	ORPHA:397715
HP:0002119	Ventriculomegaly	9786	KIAA0586	OMIM:616546
HP:0002119	Ventriculomegaly	6662	SOX9	ORPHA:140
HP:0002119	Ventriculomegaly	2073	ERCC5	OMIM:616570
HP:0002119	Ventriculomegaly	3020	H3-3A	OMIM:619720
HP:0002119	Ventriculomegaly	10300	KATNB1	OMIM:616212
HP:0002119	Ventriculomegaly	6536	SLC6A9	OMIM:617301
HP:0002119	Ventriculomegaly	55159	RFWD3	OMIM:617784
HP:0002119	Ventriculomegaly	55159	RFWD3	ORPHA:84
HP:0002119	Ventriculomegaly	8722	CTSF	OMIM:615362
HP:0002119	Ventriculomegaly	55790	CSGALNACT1	OMIM:618870
HP:0002119	Ventriculomegaly	387787	LIPT2	OMIM:617668
HP:0002119	Ventriculomegaly	51111	KMT5B	OMIM:617788
HP:0002119	Ventriculomegaly	478	ATP1A3	OMIM:619606
HP:0002119	Ventriculomegaly	10730	YME1L1	OMIM:617302
HP:0002119	Ventriculomegaly	4149	MAX	OMIM:620712
HP:0002119	Ventriculomegaly	84520	GON7	OMIM:619603
HP:0002119	Ventriculomegaly	51112	TRAPPC12	OMIM:617669
HP:0002119	Ventriculomegaly	51112	TRAPPC12	ORPHA:500144
HP:0002119	Ventriculomegaly	55768	NGLY1	ORPHA:404454
HP:0002119	Ventriculomegaly	1161	ERCC8	OMIM:216400
HP:0002119	Ventriculomegaly	100996717	NOTCH2NLC	OMIM:603472
HP:0002119	Ventriculomegaly	137492	VPS37A	ORPHA:319199
HP:0002119	Ventriculomegaly	9289	ADGRG1	OMIM:606854
HP:0002119	Ventriculomegaly	9289	ADGRG1	ORPHA:101070
HP:0002119	Ventriculomegaly	79147	FKRP	OMIM:606612
HP:0002119	Ventriculomegaly	79147	FKRP	OMIM:236670
HP:0002119	Ventriculomegaly	79147	FKRP	ORPHA:899
HP:0002119	Ventriculomegaly	79147	FKRP	ORPHA:370968
HP:0002119	Ventriculomegaly	79147	FKRP	ORPHA:370980
HP:0002119	Ventriculomegaly	79147	FKRP	ORPHA:370959
HP:0002119	Ventriculomegaly	79147	FKRP	OMIM:613153
HP:0002119	Ventriculomegaly	23250	ATP11A	OMIM:619851
HP:0002119	Ventriculomegaly	3190	HNRNPK	OMIM:616580
HP:0002119	Ventriculomegaly	284058	KANSL1	ORPHA:363958
HP:0002119	Ventriculomegaly	284058	KANSL1	OMIM:610443
HP:0002119	Ventriculomegaly	284058	KANSL1	ORPHA:363965
HP:0002119	Ventriculomegaly	25885	POLR1A	OMIM:616462
HP:0002119	Ventriculomegaly	25885	POLR1A	OMIM:620675
HP:0002119	Ventriculomegaly	113189	CHST14	ORPHA:2953
HP:0002119	Ventriculomegaly	113189	CHST14	OMIM:601776
HP:0002119	Ventriculomegaly	29940	DSE	ORPHA:2953
HP:0002119	Ventriculomegaly	9968	MED12	ORPHA:93932
HP:0002119	Ventriculomegaly	2261	FGFR3	ORPHA:1860
HP:0002119	Ventriculomegaly	2261	FGFR3	ORPHA:93274
HP:0002119	Ventriculomegaly	2261	FGFR3	OMIM:187601
HP:0002119	Ventriculomegaly	9326	ZNHIT3	ORPHA:2836
HP:0002119	Ventriculomegaly	5155	PDGFB	ORPHA:1980
HP:0002119	Ventriculomegaly	9213	XPR1	ORPHA:1980
HP:0002119	Ventriculomegaly	5159	PDGFRB	ORPHA:1980
HP:0002119	Ventriculomegaly	57462	MYORG	ORPHA:1980
HP:0002119	Ventriculomegaly	6575	SLC20A2	ORPHA:1980
HP:0002119	Ventriculomegaly	58494	JAM2	ORPHA:1980
HP:0002119	Ventriculomegaly	1183	CLCN4	ORPHA:485350
HP:0002119	Ventriculomegaly	2074	ERCC6	OMIM:278800
HP:0002119	Ventriculomegaly	2074	ERCC6	OMIM:214150
HP:0002119	Ventriculomegaly	83480	PUS3	ORPHA:488627
HP:0002119	Ventriculomegaly	83480	PUS3	OMIM:617051
HP:0002119	Ventriculomegaly	171023	ASXL1	ORPHA:97297
HP:0002119	Ventriculomegaly	652	BMP4	OMIM:607932
HP:0002119	Ventriculomegaly	22872	SEC31A	OMIM:618651
HP:0002119	Ventriculomegaly	57498	KIDINS220	OMIM:619501
HP:0002119	Ventriculomegaly	57498	KIDINS220	ORPHA:521390
HP:0002119	Ventriculomegaly	5442	POLRMT	OMIM:619743
HP:0002119	Ventriculomegaly	5528	PPP2R5D	OMIM:616355
HP:0002119	Ventriculomegaly	84314	TMEM107	OMIM:617563
HP:0002119	Ventriculomegaly	57178	ZMIZ1	OMIM:618659
HP:0002119	Ventriculomegaly	3340	NDST1	OMIM:616116
HP:0002119	Ventriculomegaly	93627	TBCK	ORPHA:488632
HP:0002119	Ventriculomegaly	93627	TBCK	OMIM:616900
HP:0002119	Ventriculomegaly	2783	GNB2	OMIM:619503
HP:0002119	Ventriculomegaly	11193	WBP4	OMIM:620852
HP:0002119	Ventriculomegaly	55361	PI4K2A	OMIM:620732
HP:0002119	Ventriculomegaly	26040	SETBP1	OMIM:269150
HP:0002119	Ventriculomegaly	26040	SETBP1	ORPHA:798
HP:0002119	Ventriculomegaly	26834	RNU4-2	OMIM:620851
HP:0002119	Ventriculomegaly	54	ACP5	ORPHA:1855
HP:0002119	Ventriculomegaly	1499	CTNNB1	ORPHA:404473
HP:0002119	Ventriculomegaly	5518	PPP2R1A	OMIM:616362
HP:0002119	Ventriculomegaly	5518	PPP2R1A	ORPHA:457284
HP:0002119	Ventriculomegaly	10717	AP4B1	OMIM:614066
HP:0002119	Ventriculomegaly	6905	TBCE	OMIM:241410
HP:0002119	Ventriculomegaly	6905	TBCE	ORPHA:2323
HP:0002119	Ventriculomegaly	84879	MFSD2A	OMIM:616486
HP:0002119	Ventriculomegaly	84879	MFSD2A	ORPHA:2512
HP:0002119	Ventriculomegaly	23126	POGZ	OMIM:616364
HP:0002119	Ventriculomegaly	57680	CHD8	OMIM:615032
HP:0002119	Ventriculomegaly	8558	CDK10	OMIM:617694
HP:0002119	Ventriculomegaly	51633	OTUD6B	OMIM:617452
HP:0002119	Ventriculomegaly	51633	OTUD6B	ORPHA:505237
HP:0002119	Ventriculomegaly	4613	MYCN	OMIM:620748
HP:0002119	Ventriculomegaly	5048	PAFAH1B1	ORPHA:217385
HP:0002119	Ventriculomegaly	5048	PAFAH1B1	ORPHA:95232
HP:0002119	Ventriculomegaly	5048	PAFAH1B1	OMIM:607432
HP:0002119	Ventriculomegaly	7531	YWHAE	ORPHA:217385
HP:0002119	Ventriculomegaly	1660	DHX9	OMIM:620988
HP:0002119	Ventriculomegaly	131405	TRIM71	OMIM:618667
HP:0002119	Ventriculomegaly	3098	HK1	OMIM:618547
HP:0002119	Ventriculomegaly	9091	PIGQ	OMIM:618548
HP:0002119	Ventriculomegaly	5590	PRKCZ	ORPHA:1606
HP:0002119	Ventriculomegaly	2563	GABRD	ORPHA:1606
HP:0002119	Ventriculomegaly	23013	SPEN	ORPHA:1606
HP:0002119	Ventriculomegaly	8510	MMP23B	ORPHA:1606
HP:0002119	Ventriculomegaly	7798	LUZP1	ORPHA:1606
HP:0002119	Ventriculomegaly	6497	SKI	ORPHA:1606
HP:0002119	Ventriculomegaly	6497	SKI	ORPHA:2462
HP:0002119	Ventriculomegaly	10630	PDPN	ORPHA:1606
HP:0002119	Ventriculomegaly	3339	HSPG2	ORPHA:1606
HP:0002119	Ventriculomegaly	10277	UBE4B	ORPHA:1606
HP:0002119	Ventriculomegaly	8514	KCNAB2	ORPHA:1606
HP:0002119	Ventriculomegaly	473	RERE	ORPHA:1606
HP:0002119	Ventriculomegaly	473	RERE	ORPHA:494344
HP:0002119	Ventriculomegaly	473	RERE	OMIM:616975
HP:0002119	Ventriculomegaly	63976	PRDM16	ORPHA:1606
HP:0002119	Ventriculomegaly	54897	CASZ1	ORPHA:1606
HP:0002119	Ventriculomegaly	1859	DYRK1A	ORPHA:464311
HP:0002119	Ventriculomegaly	1859	DYRK1A	ORPHA:268261
HP:0002119	Ventriculomegaly	1859	DYRK1A	OMIM:614104
HP:0002119	Ventriculomegaly	5728	PTEN	ORPHA:101070
HP:0002119	Ventriculomegaly	285362	SUMF1	OMIM:272200
HP:0002119	Ventriculomegaly	2203	FBP1	ORPHA:348
HP:0002119	Ventriculomegaly	26137	ZBTB20	OMIM:259050
HP:0002119	Ventriculomegaly	30813	VSX1	OMIM:614195
HP:0002119	Ventriculomegaly	5621	PRNP	ORPHA:157941
HP:0002119	Ventriculomegaly	11041	B4GAT1	OMIM:615287
HP:0002119	Ventriculomegaly	11041	B4GAT1	ORPHA:899
HP:0002119	Ventriculomegaly	7358	UGDH	OMIM:618792
HP:0002119	Ventriculomegaly	113179	ADAT3	OMIM:615286
HP:0002119	Ventriculomegaly	2263	FGFR2	ORPHA:168624
HP:0002119	Ventriculomegaly	2263	FGFR2	OMIM:123790
HP:0002119	Ventriculomegaly	2263	FGFR2	OMIM:101200
HP:0002119	Ventriculomegaly	2263	FGFR2	ORPHA:87
HP:0002119	Ventriculomegaly	476	ATP1A1	OMIM:618314
HP:0002119	Ventriculomegaly	200424	TET3	OMIM:618798
HP:0002119	Ventriculomegaly	10297	APC2	OMIM:618677
HP:0002119	Ventriculomegaly	10297	APC2	ORPHA:821
HP:0002119	Ventriculomegaly	9562	MINPP1	OMIM:619527
HP:0002119	Ventriculomegaly	79633	FAT4	ORPHA:314679
HP:0002119	Ventriculomegaly	8642	DCHS1	ORPHA:314679
HP:0002119	Ventriculomegaly	57492	ARID1B	ORPHA:251056
HP:0002119	Ventriculomegaly	6925	TCF4	OMIM:610954
HP:0002119	Ventriculomegaly	57688	ZSWIM6	OMIM:603671
HP:0002119	Ventriculomegaly	57688	ZSWIM6	ORPHA:1827
HP:0002119	Ventriculomegaly	2271	FH	OMIM:606812
HP:0002119	Ventriculomegaly	4208	MEF2C	ORPHA:228384
HP:0002119	Ventriculomegaly	4208	MEF2C	OMIM:613443
HP:0002119	Ventriculomegaly	55739	NAXD	OMIM:618321
HP:0002119	Ventriculomegaly	23007	PLCH1	OMIM:619895
HP:0002119	Ventriculomegaly	4123	MAN2C1	OMIM:619775
HP:0002119	Ventriculomegaly	54941	RNF125	OMIM:616260
HP:0002119	Ventriculomegaly	85365	ALG2	OMIM:607906
HP:0002119	Ventriculomegaly	8565	YARS1	OMIM:619418
HP:0002119	Ventriculomegaly	84168	ANTXR1	OMIM:230740
HP:0002119	Ventriculomegaly	23219	FBXO28	OMIM:619777
HP:0002119	Ventriculomegaly	1107	CHD3	OMIM:618205
HP:0002119	Ventriculomegaly	23189	KANK1	OMIM:612900
HP:0002119	Ventriculomegaly	51322	WAC	ORPHA:466950
HP:0002119	Ventriculomegaly	51322	WAC	ORPHA:284169
HP:0002119	Ventriculomegaly	404672	GTF2H5	ORPHA:33364
HP:0002119	Ventriculomegaly	833	CARS1	ORPHA:33364
HP:0002119	Ventriculomegaly	2068	ERCC2	ORPHA:33364
HP:0002119	Ventriculomegaly	7737	RNF113A	ORPHA:33364
HP:0002119	Ventriculomegaly	136647	MPLKIP	ORPHA:33364
HP:0002119	Ventriculomegaly	6897	TARS1	ORPHA:33364
HP:0002119	Ventriculomegaly	16	AARS1	ORPHA:33364
HP:0002119	Ventriculomegaly	2071	ERCC3	ORPHA:33364
HP:0002119	Ventriculomegaly	2071	ERCC3	OMIM:610651
HP:0002119	Ventriculomegaly	2961	GTF2E2	ORPHA:33364
HP:0002119	Ventriculomegaly	2072	ERCC4	OMIM:610965
HP:0002119	Ventriculomegaly	2072	ERCC4	ORPHA:84
HP:0002119	Ventriculomegaly	8813	DPM1	ORPHA:79322
HP:0002119	Ventriculomegaly	9526	MPDU1	ORPHA:79323
HP:0002119	Ventriculomegaly	9526	MPDU1	OMIM:609180
HP:0002119	Ventriculomegaly	29110	TBK1	OMIM:620880
HP:0002119	Ventriculomegaly	79087	ALG12	ORPHA:79324
HP:0002119	Ventriculomegaly	79053	ALG8	ORPHA:79325
HP:0002119	Ventriculomegaly	286204	CRB2	OMIM:219730
HP:0002119	Ventriculomegaly	25981	DNAH1	ORPHA:244
HP:0002119	Ventriculomegaly	115948	ODAD3	ORPHA:244
HP:0002119	Ventriculomegaly	54768	HYDIN	ORPHA:244
HP:0002119	Ventriculomegaly	352909	DNAAF3	ORPHA:244
HP:0002119	Ventriculomegaly	27148	STK36	ORPHA:244
HP:0002119	Ventriculomegaly	51314	NME8	ORPHA:244
HP:0002119	Ventriculomegaly	92749	DRC1	ORPHA:244
HP:0002119	Ventriculomegaly	54970	TTC12	ORPHA:244
HP:0002119	Ventriculomegaly	152110	NEK10	ORPHA:244
HP:0002119	Ventriculomegaly	8481	OFD1	ORPHA:244
HP:0002119	Ventriculomegaly	8481	OFD1	OMIM:300209
HP:0002119	Ventriculomegaly	2302	FOXJ1	ORPHA:244
HP:0002119	Ventriculomegaly	221421	RSPH9	ORPHA:244
HP:0002119	Ventriculomegaly	85478	CCDC65	ORPHA:244
HP:0002119	Ventriculomegaly	55036	CCDC40	ORPHA:244
HP:0002119	Ventriculomegaly	51364	ZMYND10	ORPHA:244
HP:0002119	Ventriculomegaly	64446	DNAI2	ORPHA:244
HP:0002119	Ventriculomegaly	8382	NME5	ORPHA:244
HP:0002119	Ventriculomegaly	6674	SPAG1	ORPHA:244
HP:0002119	Ventriculomegaly	83544	DNAL1	ORPHA:244
HP:0002119	Ventriculomegaly	89765	RSPH1	ORPHA:244
HP:0002119	Ventriculomegaly	83538	ODAD4	ORPHA:244
HP:0002119	Ventriculomegaly	200373	CFAP221	ORPHA:244
HP:0002119	Ventriculomegaly	374407	DNAJB13	ORPHA:244
HP:0002119	Ventriculomegaly	55172	DNAAF2	ORPHA:244
HP:0002119	Ventriculomegaly	161582	DNAAF4	ORPHA:244
HP:0002119	Ventriculomegaly	2622	GAS8	ORPHA:244
HP:0002119	Ventriculomegaly	23639	DNAAF11	ORPHA:244
HP:0002119	Ventriculomegaly	27019	DNAI1	ORPHA:244
HP:0002119	Ventriculomegaly	345895	RSPH4A	ORPHA:244
HP:0002119	Ventriculomegaly	54919	DNAAF5	ORPHA:244
HP:0002119	Ventriculomegaly	6103	RPGR	ORPHA:244
HP:0002119	Ventriculomegaly	85452	CFAP74	ORPHA:244
HP:0002119	Ventriculomegaly	93233	ODAD1	ORPHA:244
HP:0002119	Ventriculomegaly	55130	ODAD2	ORPHA:244
HP:0002119	Ventriculomegaly	1767	DNAH5	ORPHA:244
HP:0002119	Ventriculomegaly	83861	RSPH3	ORPHA:244
HP:0002119	Ventriculomegaly	345643	MCIDAS	ORPHA:244
HP:0002119	Ventriculomegaly	56683	CFAP298	ORPHA:244
HP:0002119	Ventriculomegaly	79925	SPEF2	ORPHA:244
HP:0002119	Ventriculomegaly	10309	CCNO	ORPHA:244
HP:0002119	Ventriculomegaly	115399	LRRC56	ORPHA:244
HP:0002119	Ventriculomegaly	139212	DNAAF6	ORPHA:244
HP:0002119	Ventriculomegaly	123872	DNAAF1	ORPHA:244
HP:0002119	Ventriculomegaly	85016	CFAP300	ORPHA:244
HP:0002119	Ventriculomegaly	339829	CCDC39	ORPHA:244
HP:0002119	Ventriculomegaly	8701	DNAH11	ORPHA:244
HP:0002119	Ventriculomegaly	1770	DNAH9	ORPHA:244
HP:0002119	Ventriculomegaly	246176	GAS2L2	ORPHA:244
HP:0002119	Ventriculomegaly	3897	L1CAM	OMIM:304100
HP:0002119	Ventriculomegaly	3897	L1CAM	ORPHA:2466
HP:0002119	Ventriculomegaly	3897	L1CAM	OMIM:303350
HP:0002119	Ventriculomegaly	25970	SH2B1	ORPHA:261197
HP:0002119	Ventriculomegaly	8295	TRRAP	OMIM:618454
HP:0002119	Ventriculomegaly	6576	SLC25A1	OMIM:615182
HP:0002119	Ventriculomegaly	9742	IFT140	OMIM:266920
HP:0002119	Ventriculomegaly	54903	MKS1	OMIM:249000
HP:0002119	Ventriculomegaly	5881	RAC3	OMIM:618577
HP:0002119	Ventriculomegaly	133686	NADK2	OMIM:616034
HP:0002119	Ventriculomegaly	133686	NADK2	ORPHA:431361
HP:0002119	Ventriculomegaly	29968	PSAT1	OMIM:616038
HP:0002119	Ventriculomegaly	27429	HTRA2	OMIM:617248
HP:0002119	Ventriculomegaly	9851	KIAA0753	OMIM:617127
HP:0002119	Ventriculomegaly	9851	KIAA0753	OMIM:619479
HP:0002119	Ventriculomegaly	5908	RAP1B	OMIM:620654
HP:0002119	Ventriculomegaly	140679	SLC32A1	OMIM:620774
HP:0002119	Ventriculomegaly	8905	AP1S2	OMIM:304340
HP:0002119	Ventriculomegaly	8905	AP1S2	ORPHA:1568
HP:0002119	Ventriculomegaly	9900	SV2A	OMIM:620772
HP:0002119	Ventriculomegaly	389827	MYMK	OMIM:254940
HP:0002119	Ventriculomegaly	389827	MYMK	ORPHA:1358
HP:0002119	Ventriculomegaly	8803	SUCLA2	ORPHA:1933
HP:0002119	Ventriculomegaly	2639	GCDH	ORPHA:25
HP:0002119	Ventriculomegaly	9361	LONP1	OMIM:600373
HP:0002119	Ventriculomegaly	9361	LONP1	ORPHA:79243
HP:0002119	Ventriculomegaly	22827	PUF60	ORPHA:508498
HP:0002119	Ventriculomegaly	9488	PIGB	OMIM:618580
HP:0002119	Ventriculomegaly	8925	HERC1	OMIM:617011
HP:0002119	Ventriculomegaly	8925	HERC1	ORPHA:457359
HP:0002119	Ventriculomegaly	1281	COL3A1	OMIM:618343
HP:0002119	Ventriculomegaly	4728	NDUFS8	OMIM:618222
HP:0002119	Ventriculomegaly	2775	GNAO1	OMIM:617493
HP:0002119	Ventriculomegaly	9759	HDAC4	OMIM:619797
HP:0002119	Ventriculomegaly	30000	TNPO2	OMIM:619556
HP:0002119	Ventriculomegaly	54892	NCAPG2	OMIM:618460
HP:0002119	Ventriculomegaly	160418	TMTC3	OMIM:617255
HP:0002119	Ventriculomegaly	2187	FANCB	OMIM:300514
HP:0002119	Ventriculomegaly	2187	FANCB	ORPHA:84
HP:0002119	Ventriculomegaly	54517	PUS7	OMIM:618342
HP:0002119	Ventriculomegaly	1317	SLC31A1	OMIM:620306
HP:0002119	Ventriculomegaly	54973	INTS11	OMIM:620428
HP:0002119	Ventriculomegaly	92335	STRADA	ORPHA:500533
HP:0002119	Ventriculomegaly	92335	STRADA	OMIM:611087
HP:0002119	Ventriculomegaly	4967	OGDH	OMIM:203740
HP:0002119	Ventriculomegaly	6091	ROBO1	OMIM:620305
HP:0002119	Ventriculomegaly	4720	NDUFS2	OMIM:618228
HP:0002119	Ventriculomegaly	79813	EHMT1	ORPHA:96147
HP:0002119	Ventriculomegaly	79813	EHMT1	ORPHA:261652
HP:0002119	Ventriculomegaly	84320	ACBD6	OMIM:620785
HP:0002119	Ventriculomegaly	10102	TSFM	OMIM:610505
HP:0002119	Ventriculomegaly	170302	ARX	OMIM:308350
HP:0002119	Ventriculomegaly	170302	ARX	ORPHA:452
HP:0002119	Ventriculomegaly	170302	ARX	OMIM:300215
HP:0002119	Ventriculomegaly	100033413	SNORD116-1	OMIM:176270
HP:0002119	Ventriculomegaly	8924	HERC2	OMIM:176270
HP:0002119	Ventriculomegaly	23742	NPAP1	OMIM:176270
HP:0002119	Ventriculomegaly	338433	SNORD115-1	OMIM:176270
HP:0002119	Ventriculomegaly	54551	MAGEL2	OMIM:176270
HP:0002119	Ventriculomegaly	54551	MAGEL2	ORPHA:398069
HP:0002119	Ventriculomegaly	54551	MAGEL2	ORPHA:98754
HP:0002119	Ventriculomegaly	54551	MAGEL2	ORPHA:177904
HP:0002119	Ventriculomegaly	54551	MAGEL2	ORPHA:177901
HP:0002119	Ventriculomegaly	7681	MKRN3	OMIM:176270
HP:0002119	Ventriculomegaly	145624	PWAR1	OMIM:176270
HP:0002119	Ventriculomegaly	3653	IPW	OMIM:176270
HP:0002119	Ventriculomegaly	791114	PWRN1	OMIM:176270
HP:0002119	Ventriculomegaly	1605	DAG1	ORPHA:370997
HP:0002119	Ventriculomegaly	1605	DAG1	ORPHA:899
HP:0002119	Ventriculomegaly	1605	DAG1	OMIM:616538
HP:0002119	Ventriculomegaly	7707	ZNF148	OMIM:617260
HP:0002119	Ventriculomegaly	55869	HDAC8	OMIM:300882
HP:0002119	Ventriculomegaly	55869	HDAC8	ORPHA:199
HP:0002119	Ventriculomegaly	5515	PPP2CA	OMIM:618354
HP:0002119	Ventriculomegaly	26275	HIBCH	ORPHA:88639
HP:0002119	Ventriculomegaly	650	BMP2	ORPHA:261295
HP:0002119	Ventriculomegaly	23102	TBC1D2B	OMIM:619323
HP:0002119	Ventriculomegaly	1436	CSF1R	OMIM:618476
HP:0002119	Ventriculomegaly	6651	SON	OMIM:617140
HP:0002119	Ventriculomegaly	6651	SON	ORPHA:500150
HP:0002119	Ventriculomegaly	57520	HECW2	OMIM:617268
HP:0002119	Ventriculomegaly	51601	LIPT1	OMIM:616299
HP:0002119	Ventriculomegaly	10659	CELF2	OMIM:619561
HP:0002119	Ventriculomegaly	6492	SIM1	ORPHA:398079
HP:0002119	Ventriculomegaly	8320	EOMES	ORPHA:171703
HP:0002119	Ventriculomegaly	1654	DDX3X	ORPHA:457260
HP:0002119	Ventriculomegaly	1654	DDX3X	OMIM:300958
HP:0002119	Ventriculomegaly	1654	DDX3X	ORPHA:3338
HP:0002119	Ventriculomegaly	23729	SHPK	ORPHA:440713
HP:0002119	Ventriculomegaly	8890	EIF2B4	OMIM:620314
HP:0002119	Ventriculomegaly	26128	KIFBP	ORPHA:66629
HP:0002119	Ventriculomegaly	5660	PSAP	OMIM:611722
HP:0002119	Ventriculomegaly	7846	TUBA1A	OMIM:611603
HP:0002119	Ventriculomegaly	7846	TUBA1A	ORPHA:467166
HP:0002119	Ventriculomegaly	7846	TUBA1A	ORPHA:171680
HP:0002119	Ventriculomegaly	4952	OCRL	ORPHA:534
HP:0002119	Ventriculomegaly	4952	OCRL	OMIM:309000
HP:0002119	Ventriculomegaly	9179	AP4M1	OMIM:612936
HP:0002119	Ventriculomegaly	29954	POMT2	OMIM:236670
HP:0002119	Ventriculomegaly	29954	POMT2	ORPHA:899
HP:0002119	Ventriculomegaly	29954	POMT2	ORPHA:370968
HP:0002119	Ventriculomegaly	29954	POMT2	ORPHA:370959
HP:0002119	Ventriculomegaly	29954	POMT2	ORPHA:206559
HP:0002119	Ventriculomegaly	29954	POMT2	OMIM:613150
HP:0002119	Ventriculomegaly	29954	POMT2	OMIM:613156
HP:0002119	Ventriculomegaly	10585	POMT1	OMIM:236670
HP:0002119	Ventriculomegaly	10585	POMT1	ORPHA:899
HP:0002119	Ventriculomegaly	10585	POMT1	ORPHA:370968
HP:0002119	Ventriculomegaly	10585	POMT1	ORPHA:370980
HP:0002119	Ventriculomegaly	10585	POMT1	ORPHA:370959
HP:0002119	Ventriculomegaly	9215	LARGE1	OMIM:236670
HP:0002119	Ventriculomegaly	9215	LARGE1	ORPHA:899
HP:0002119	Ventriculomegaly	9215	LARGE1	ORPHA:370968
HP:0002119	Ventriculomegaly	9215	LARGE1	OMIM:613154
HP:0002119	Ventriculomegaly	84892	POMGNT2	ORPHA:899
HP:0002119	Ventriculomegaly	84892	POMGNT2	OMIM:614830
HP:0002119	Ventriculomegaly	148789	B3GALNT2	ORPHA:899
HP:0002119	Ventriculomegaly	1282	COL4A1	ORPHA:899
HP:0002119	Ventriculomegaly	729920	CRPPA	ORPHA:899
HP:0002119	Ventriculomegaly	729920	CRPPA	ORPHA:370980
HP:0002119	Ventriculomegaly	729920	CRPPA	OMIM:614643
HP:0002119	Ventriculomegaly	10329	RXYLT1	ORPHA:899
HP:0002119	Ventriculomegaly	84197	POMK	ORPHA:899
HP:0002119	Ventriculomegaly	84197	POMK	ORPHA:370959
HP:0002119	Ventriculomegaly	55624	POMGNT1	ORPHA:899
HP:0002119	Ventriculomegaly	55624	POMGNT1	ORPHA:370959
HP:0002119	Ventriculomegaly	55624	POMGNT1	OMIM:253280
HP:0002119	Ventriculomegaly	55624	POMGNT1	OMIM:613151
HP:0002119	Ventriculomegaly	3417	IDH1	ORPHA:99646
HP:0002119	Ventriculomegaly	29925	GMPPB	ORPHA:370968
HP:0002119	Ventriculomegaly	29925	GMPPB	ORPHA:370959
HP:0002119	Ventriculomegaly	4784	NFIX	OMIM:602535
HP:0002119	Ventriculomegaly	4784	NFIX	ORPHA:561
HP:0002119	Ventriculomegaly	4784	NFIX	ORPHA:420179
HP:0002119	Ventriculomegaly	4784	NFIX	OMIM:614753
HP:0002119	Ventriculomegaly	347733	TUBB2B	ORPHA:467166
HP:0002119	Ventriculomegaly	10381	TUBB3	ORPHA:467166
HP:0002119	Ventriculomegaly	3192	HNRNPU	OMIM:617391
HP:0002119	Ventriculomegaly	3192	HNRNPU	ORPHA:238769
HP:0002119	Ventriculomegaly	23221	RHOBTB2	OMIM:618004
HP:0002119	Ventriculomegaly	79641	ROGDI	OMIM:226750
HP:0002119	Ventriculomegaly	55572	FOXRED1	OMIM:618241
HP:0002119	Ventriculomegaly	8260	NAA10	OMIM:300855
HP:0002119	Ventriculomegaly	8260	NAA10	ORPHA:276432
HP:0002119	Ventriculomegaly	11274	USP18	OMIM:617397
HP:0002119	Ventriculomegaly	1108	CHD4	OMIM:617159
HP:0002119	Ventriculomegaly	26999	CYFIP2	OMIM:618008
HP:0002119	Ventriculomegaly	51608	GET4	OMIM:620200
HP:0002119	Ventriculomegaly	2898	GRIK2	OMIM:619580
HP:0002119	Ventriculomegaly	23258	DENND5A	OMIM:617281
HP:0002119	Ventriculomegaly	191	AHCY	ORPHA:88618
HP:0002119	Ventriculomegaly	1760	DMPK	ORPHA:589821
HP:0002119	Ventriculomegaly	2009	EML1	OMIM:600348
HP:0002119	Ventriculomegaly	633	BGN	OMIM:300989
HP:0002119	Ventriculomegaly	51300	TIMMDC1	OMIM:618251
HP:0002119	Ventriculomegaly	5277	PIGA	OMIM:300868
HP:0002119	Ventriculomegaly	4700	NDUFA6	OMIM:618253
HP:0002119	Ventriculomegaly	2475	MTOR	ORPHA:457485
HP:0002119	Ventriculomegaly	2475	MTOR	ORPHA:99802
HP:0002119	Ventriculomegaly	2475	MTOR	OMIM:616638
HP:0002119	Ventriculomegaly	8635	RNASET2	OMIM:612951
HP:0002119	Ventriculomegaly	6304	SATB1	OMIM:619229
HP:0002119	Ventriculomegaly	1974	EIF4A2	OMIM:620455
HP:0002119	Ventriculomegaly	220296	HEPACAM	OMIM:613925
HP:0002119	Ventriculomegaly	8883	NAE1	OMIM:620210
HP:0002119	Ventriculomegaly	60386	SLC25A19	ORPHA:99742
HP:0002119	Ventriculomegaly	79718	TBL1XR1	ORPHA:487825
HP:0002119	Ventriculomegaly	50801	KCNK4	OMIM:618381
HP:0002119	Ventriculomegaly	9791	PTDSS1	OMIM:151050
HP:0002119	Ventriculomegaly	11212	PLPBP	OMIM:617290
HP:0002119	Ventriculomegaly	11212	PLPBP	ORPHA:3006
HP:0002119	Ventriculomegaly	51241	COX16	OMIM:619355
HP:0002119	Ventriculomegaly	57187	THOC2	OMIM:300957
HP:0002119	Ventriculomegaly	27107	ZBTB11	OMIM:618383
HP:0002119	Ventriculomegaly	28962	OSTM1	ORPHA:85179
HP:0002119	Ventriculomegaly	28962	OSTM1	OMIM:259720
HP:0002119	Ventriculomegaly	145173	B3GLCT	OMIM:261540
HP:0002119	Ventriculomegaly	145173	B3GLCT	ORPHA:709
HP:0002119	Ventriculomegaly	6711	SPTBN1	OMIM:619475
HP:0002119	Ventriculomegaly	57514	ARHGAP31	OMIM:100300
HP:0002119	Ventriculomegaly	3839	KPNA3	OMIM:620106
HP:0002119	Ventriculomegaly	4983	OPHN1	ORPHA:137831
HP:0002119	Ventriculomegaly	4983	OPHN1	OMIM:300486
HP:0002119	Ventriculomegaly	80036	TRPM3	OMIM:620224
HP:0002119	Ventriculomegaly	2131	EXT1	ORPHA:502
HP:0002119	Ventriculomegaly	5885	RAD21	ORPHA:502
HP:0002119	Ventriculomegaly	5885	RAD21	OMIM:614701
HP:0002119	Ventriculomegaly	5885	RAD21	ORPHA:199
HP:0002119	Ventriculomegaly	7227	TRPS1	ORPHA:502
HP:0002119	Ventriculomegaly	215	ABCD1	ORPHA:369942
HP:0002119	Ventriculomegaly	10134	BCAP31	ORPHA:369942
HP:0002119	Ventriculomegaly	25839	COG4	OMIM:618150
HP:0002119	Ventriculomegaly	51360	MBTPS2	OMIM:308205
HP:0002119	Ventriculomegaly	5290	PIK3CA	OMIM:602501
HP:0002119	Ventriculomegaly	5290	PIK3CA	ORPHA:99802
HP:0002119	Ventriculomegaly	5290	PIK3CA	ORPHA:60040
HP:0002119	Ventriculomegaly	6872	TAF1	OMIM:300966
HP:0002119	Ventriculomegaly	374354	NHLRC2	OMIM:618278
HP:0002119	Ventriculomegaly	374879	ZNF699	OMIM:619488
HP:0002119	Ventriculomegaly	128240	NAXE	OMIM:617186
HP:0002119	Ventriculomegaly	8239	USP9X	OMIM:300968
HP:0002119	Ventriculomegaly	8239	USP9X	ORPHA:480880
HP:0002119	Ventriculomegaly	22983	MAST1	OMIM:618273
HP:0002119	Ventriculomegaly	55640	FLVCR2	OMIM:225790
HP:0002119	Ventriculomegaly	6472	SHMT2	OMIM:619121
HP:0002119	Ventriculomegaly	29123	ANKRD11	ORPHA:261250
HP:0002119	Ventriculomegaly	84340	GFM2	OMIM:618397
HP:0002119	Ventriculomegaly	9373	PLAA	ORPHA:521426
HP:0002119	Ventriculomegaly	9373	PLAA	OMIM:617527
HP:0002119	Ventriculomegaly	5080	PAX6	OMIM:120200
HP:0002119	Ventriculomegaly	1759	DNM1	OMIM:620352
HP:0002119	Ventriculomegaly	55252	ASXL2	OMIM:617190
HP:0002119	Ventriculomegaly	6904	TBCD	OMIM:617193
HP:0002119	Ventriculomegaly	2629	GBA1	ORPHA:2072
HP:0002119	Ventriculomegaly	2629	GBA1	OMIM:608013
HP:0002119	Ventriculomegaly	340533	NEXMIF	ORPHA:85277
HP:0002119	Ventriculomegaly	10479	SLC9A6	ORPHA:85278
HP:0002119	Ventriculomegaly	84231	TRAF7	OMIM:618164
HP:0002119	Ventriculomegaly	4781	NFIB	OMIM:618286
HP:0002119	Ventriculomegaly	54187	NANS	OMIM:610442
HP:0002119	Ventriculomegaly	3295	HSD17B4	OMIM:261515
HP:0002119	Ventriculomegaly	4508	MT-ATP6	ORPHA:644
HP:0002119	Ventriculomegaly	1376	CPT2	ORPHA:228308
HP:0002119	Ventriculomegaly	1376	CPT2	OMIM:608836
HP:0002119	Ventriculomegaly	5727	PTCH1	ORPHA:77301
HP:0002119	Ventriculomegaly	9897	WASHC5	ORPHA:7
HP:0002119	Ventriculomegaly	28952	CCDC22	ORPHA:7
HP:0002119	Ventriculomegaly	57020	VPS35L	ORPHA:7
HP:0002119	Ventriculomegaly	56896	DPYSL5	ORPHA:7
HP:0002119	Ventriculomegaly	23299	BICD2	OMIM:618291
HP:0002119	Ventriculomegaly	57538	ALPK3	OMIM:618052
HP:0002119	Ventriculomegaly	129285	PPP1R21	OMIM:619383
HP:0002119	Ventriculomegaly	23040	MYT1L	ORPHA:647799
HP:0002119	Ventriculomegaly	221692	PHACTR1	OMIM:618298
HP:0002119	Ventriculomegaly	10535	RNASEH2A	OMIM:610333
HP:0002119	Ventriculomegaly	10535	RNASEH2A	ORPHA:51
HP:0002119	Ventriculomegaly	3708	ITPR1	OMIM:206700
HP:0002119	Ventriculomegaly	5138	PDE2A	OMIM:619150
HP:0002119	Ventriculomegaly	11113	CIT	OMIM:617090
HP:0002119	Ventriculomegaly	11113	CIT	ORPHA:2512
HP:0002119	Ventriculomegaly	4702	NDUFA8	OMIM:619272
HP:0002119	Ventriculomegaly	8243	SMC1A	OMIM:300590
HP:0002119	Ventriculomegaly	8243	SMC1A	ORPHA:199
HP:0002119	Ventriculomegaly	2294	FOXF1	OMIM:265380
HP:0002119	Ventriculomegaly	8450	CUL4B	OMIM:300354
HP:0002119	Ventriculomegaly	55503	TRPV6	OMIM:618188
HP:0002119	Ventriculomegaly	83700	JAM3	OMIM:613730
HP:0002119	Ventriculomegaly	23556	PIGN	ORPHA:2059
HP:0002119	Ventriculomegaly	23556	PIGN	ORPHA:280633
HP:0002119	Ventriculomegaly	54820	NDE1	ORPHA:2177
HP:0002119	Ventriculomegaly	54820	NDE1	OMIM:605013
HP:0002119	Ventriculomegaly	4774	NFIA	OMIM:613735
HP:0002119	Ventriculomegaly	4774	NFIA	ORPHA:401986
HP:0002119	Ventriculomegaly	10667	FARS2	OMIM:614946
HP:0002119	Ventriculomegaly	8496	PPFIBP1	OMIM:620024
HP:0002119	Ventriculomegaly	9839	ZEB2	OMIM:235730
HP:0002119	Ventriculomegaly	64324	NSD1	ORPHA:821
HP:0002119	Ventriculomegaly	64324	NSD1	OMIM:117550
HP:0002119	Ventriculomegaly	55112	DYNC2I1	ORPHA:93271
HP:0002119	Ventriculomegaly	57560	IFT80	ORPHA:93271
HP:0002119	Ventriculomegaly	57539	WDR35	ORPHA:93271
HP:0002119	Ventriculomegaly	79659	DYNC2H1	ORPHA:93271
HP:0002119	Ventriculomegaly	89891	DYNC2I2	ORPHA:93271
HP:0002119	Ventriculomegaly	80232	WDR26	ORPHA:513456
HP:0002119	Ventriculomegaly	80232	WDR26	OMIM:617616
HP:0002119	Ventriculomegaly	89910	UBE3B	OMIM:244450
HP:0002119	Ventriculomegaly	4552	MTRR	ORPHA:2169
HP:0002119	Ventriculomegaly	22858	CILK1	OMIM:612651
HP:0002119	Ventriculomegaly	2314	FLII	ORPHA:819
HP:0002119	Ventriculomegaly	23096	IQSEC2	ORPHA:819
HP:0002119	Ventriculomegaly	10743	RAI1	ORPHA:819
HP:0002119	Ventriculomegaly	10743	RAI1	OMIM:182290
HP:0002119	Ventriculomegaly	10522	DEAF1	ORPHA:819
HP:0002119	Ventriculomegaly	1717	DHCR7	ORPHA:818
HP:0002119	Ventriculomegaly	23431	AP4E1	OMIM:613744
HP:0002119	Ventriculomegaly	25782	RAB3GAP2	OMIM:212720
HP:0002119	Ventriculomegaly	10000	AKT3	ORPHA:99802
HP:0002119	Ventriculomegaly	10000	AKT3	OMIM:615937
HP:0002119	Ventriculomegaly	10978	CLP1	OMIM:615803
HP:0002119	Ventriculomegaly	26153	KIF26A	OMIM:620156
HP:0002119	Ventriculomegaly	271	AMPD2	OMIM:615809
HP:0002119	Ventriculomegaly	1340	COX6B1	OMIM:619051
HP:0002119	Ventriculomegaly	6197	RPS6KA3	OMIM:303600
HP:0002119	Ventriculomegaly	6197	RPS6KA3	ORPHA:192
HP:0002119	Ventriculomegaly	4001	LMNB1	OMIM:619179
HP:0002119	Ventriculomegaly	2892	GRIA3	OMIM:300699
HP:0002119	Ventriculomegaly	1351	COX8A	OMIM:619059
HP:0002119	Ventriculomegaly	3064	HTT	ORPHA:248111
HP:0002119	Ventriculomegaly	3899	AFF3	OMIM:619297
HP:0002119	Ventriculomegaly	2260	FGFR1	ORPHA:2396
HP:0002119	Ventriculomegaly	114034	TOE1	OMIM:614969
HP:0002119	Ventriculomegaly	894	CCND2	OMIM:615938
HP:0002119	Ventriculomegaly	9570	GOSR2	OMIM:620166
HP:0002119	Ventriculomegaly	672	BRCA1	ORPHA:84
HP:0002119	Ventriculomegaly	10459	MAD2L2	ORPHA:84
HP:0002119	Ventriculomegaly	7516	XRCC2	ORPHA:84
HP:0002119	Ventriculomegaly	29089	UBE2T	ORPHA:84
HP:0002119	Ventriculomegaly	675	BRCA2	ORPHA:84
HP:0002119	Ventriculomegaly	55120	FANCL	ORPHA:84
HP:0002119	Ventriculomegaly	2177	FANCD2	ORPHA:84
HP:0002119	Ventriculomegaly	2175	FANCA	ORPHA:84
HP:0002119	Ventriculomegaly	2176	FANCC	ORPHA:84
HP:0002119	Ventriculomegaly	2178	FANCE	ORPHA:84
HP:0002119	Ventriculomegaly	2188	FANCF	ORPHA:84
HP:0002119	Ventriculomegaly	2189	FANCG	ORPHA:84
HP:0002119	Ventriculomegaly	5888	RAD51	ORPHA:84
HP:0002119	Ventriculomegaly	5889	RAD51C	ORPHA:84
HP:0002119	Ventriculomegaly	83990	BRIP1	ORPHA:84
HP:0002119	Ventriculomegaly	57697	FANCM	ORPHA:84
HP:0002119	Ventriculomegaly	79728	PALB2	ORPHA:84
HP:0002119	Ventriculomegaly	84464	SLX4	ORPHA:84
HP:0002119	Ventriculomegaly	55215	FANCI	ORPHA:84
HP:0002119	Ventriculomegaly	501	ALDH7A1	ORPHA:3006
HP:0002119	Ventriculomegaly	84823	LMNB2	OMIM:619180
HP:0002119	Ventriculomegaly	84823	LMNB2	OMIM:616540
HP:0002119	Ventriculomegaly	9184	BUB3	ORPHA:1052
HP:0002119	Ventriculomegaly	699	BUB1	ORPHA:1052
HP:0002119	Ventriculomegaly	699	BUB1	OMIM:620183
HP:0002119	Ventriculomegaly	9702	CEP57	ORPHA:1052
HP:0002119	Ventriculomegaly	9319	TRIP13	ORPHA:1052
HP:0002119	Ventriculomegaly	701	BUB1B	ORPHA:1052
HP:0002119	Ventriculomegaly	701	BUB1B	OMIM:257300
HP:0002119	Ventriculomegaly	23036	ZNF292	OMIM:619188
HP:0002119	Ventriculomegaly	4591	TRIM37	OMIM:253250
HP:0002119	Ventriculomegaly	10352	WARS2	ORPHA:572798
HP:0002119	Ventriculomegaly	10352	WARS2	OMIM:617710
HP:0002119	Ventriculomegaly	84342	COG8	ORPHA:95428
HP:0002119	Ventriculomegaly	84342	COG8	OMIM:611182
HP:0002119	Ventriculomegaly	11284	PNKP	OMIM:613402
HP:0002119	Ventriculomegaly	4338	MOCS2	OMIM:252160
HP:0002119	Ventriculomegaly	25942	SIN3A	OMIM:613406
HP:0002119	Ventriculomegaly	25942	SIN3A	ORPHA:500166
HP:0002119	Ventriculomegaly	7468	NSD2	OMIM:194190
HP:0002119	Ventriculomegaly	10815	CPLX1	OMIM:194190
HP:0002119	Ventriculomegaly	1487	CTBP1	OMIM:194190
HP:0002119	Ventriculomegaly	53834	FGFRL1	OMIM:194190
HP:0002119	Ventriculomegaly	3954	LETM1	OMIM:194190
HP:0002119	Ventriculomegaly	26227	PHGDH	OMIM:256520
HP:0002119	Ventriculomegaly	26227	PHGDH	ORPHA:79351
HP:0002119	Ventriculomegaly	2615	LRRC32	OMIM:619074
HP:0002119	Ventriculomegaly	6608	SMO	OMIM:601707
HP:0002119	Ventriculomegaly	6608	SMO	ORPHA:1553
HP:0002119	Ventriculomegaly	79753	SNIP1	OMIM:614501
HP:0002119	Ventriculomegaly	84720	PIGO	OMIM:614749
HP:0002119	Ventriculomegaly	83475	DOHH	OMIM:620066
HP:0002119	Ventriculomegaly	79228	THOC6	ORPHA:363444
HP:0002119	Ventriculomegaly	58508	KMT2C	ORPHA:261652
HP:0002119	Ventriculomegaly	4094	MAF	ORPHA:1272
HP:0002119	Ventriculomegaly	10436	EMG1	ORPHA:1270
HP:0002119	Ventriculomegaly	9896	FIG4	OMIM:612691
HP:0002119	Ventriculomegaly	9568	GABBR2	OMIM:617903
HP:0002119	Ventriculomegaly	9568	GABBR2	OMIM:617904
HP:0002119	Ventriculomegaly	5340	PLG	OMIM:217090
HP:0002119	Ventriculomegaly	54499	TMCO1	ORPHA:1394
HP:0002119	Ventriculomegaly	6638	SNRPN	ORPHA:98754
HP:0002119	Ventriculomegaly	6638	SNRPN	ORPHA:177904
HP:0002119	Ventriculomegaly	6638	SNRPN	ORPHA:177901
HP:0002119	Ventriculomegaly	4692	NDN	ORPHA:98754
HP:0002119	Ventriculomegaly	4692	NDN	ORPHA:177904
HP:0002119	Ventriculomegaly	4692	NDN	ORPHA:177901
HP:0002119	Ventriculomegaly	4948	OCA2	ORPHA:98754
HP:0002119	Ventriculomegaly	4948	OCA2	ORPHA:177904
HP:0002119	Ventriculomegaly	4948	OCA2	ORPHA:177901
HP:0002119	Ventriculomegaly	23483	TGDS	ORPHA:1388
HP:0002119	Ventriculomegaly	55275	VPS53	OMIM:615851
HP:0002119	Ventriculomegaly	440193	CCDC88C	OMIM:236600
HP:0002119	Ventriculomegaly	2146	EZH2	OMIM:277590
HP:0002119	Ventriculomegaly	64116	SLC39A8	ORPHA:468699
HP:0002119	Ventriculomegaly	51750	RTEL1	ORPHA:3322
HP:0002119	Ventriculomegaly	65057	ACD	ORPHA:3322
HP:0002119	Ventriculomegaly	5073	PARN	ORPHA:3322
HP:0002119	Ventriculomegaly	7015	TERT	ORPHA:3322
HP:0002119	Ventriculomegaly	26277	TINF2	ORPHA:3322
HP:0002119	Ventriculomegaly	1736	DKC1	ORPHA:3322
HP:0002119	Ventriculomegaly	10682	EBP	OMIM:302960
HP:0002119	Ventriculomegaly	7546	ZIC2	OMIM:609637
HP:0002119	Ventriculomegaly	63925	ZNF335	ORPHA:329228
HP:0002119	Ventriculomegaly	9276	COPB2	OMIM:617800
HP:0002119	Ventriculomegaly	9276	COPB2	ORPHA:2512
HP:0002119	Ventriculomegaly	29072	SETD2	OMIM:616831
HP:0002119	Ventriculomegaly	22907	DHX30	OMIM:617804
HP:0002119	Ventriculomegaly	10664	CTCF	OMIM:615502
HP:0002119	Ventriculomegaly	10664	CTCF	ORPHA:363611
HP:0002119	Ventriculomegaly	2200	FBN1	ORPHA:2462
HP:0002119	Ventriculomegaly	9230	RAB11B	OMIM:617807
HP:0002119	Ventriculomegaly	90417	KNSTRN	OMIM:613328
HP:0002119	Ventriculomegaly	90417	KNSTRN	ORPHA:221139
HP:0002119	Ventriculomegaly	5293	PIK3CD	OMIM:613328
HP:0002119	Ventriculomegaly	5293	PIK3CD	ORPHA:221139
HP:0002119	Ventriculomegaly	84153	RNASEH2C	ORPHA:51
HP:0002119	Ventriculomegaly	25939	SAMHD1	ORPHA:51
HP:0002119	Ventriculomegaly	79621	RNASEH2B	ORPHA:51
HP:0002119	Ventriculomegaly	103	ADAR	ORPHA:51
HP:0002119	Ventriculomegaly	11277	TREX1	ORPHA:51
HP:0002119	Ventriculomegaly	100147744	RNU7-1	ORPHA:51
HP:0002119	Ventriculomegaly	134353	LSM11	ORPHA:51
HP:0002119	Ventriculomegaly	64135	IFIH1	ORPHA:51
HP:0002119	Ventriculomegaly	27152	INTU	OMIM:617926
HP:0002119	Ventriculomegaly	10075	HUWE1	OMIM:309590
HP:0002119	Ventriculomegaly	55906	ZC4H2	OMIM:301041
HP:0002119	Ventriculomegaly	26160	IFT172	OMIM:615630
HP:0002119	Ventriculomegaly	11133	KPTN	OMIM:615637
HP:0002119	Ventriculomegaly	85358	SHANK3	OMIM:606232
HP:0002119	Ventriculomegaly	1729	DIAPH1	ORPHA:2573
HP:0002119	Ventriculomegaly	59	ACTA2	ORPHA:2573
HP:0002119	Ventriculomegaly	57674	RNF213	ORPHA:2573
HP:0002119	Ventriculomegaly	50943	FOXP3	OMIM:304790
HP:0002119	Ventriculomegaly	8050	PDHX	ORPHA:255182
HP:0002119	Ventriculomegaly	55593	OTUD5	OMIM:301056
HP:0002119	Ventriculomegaly	57465	TBC1D24	OMIM:220500
HP:0002119	Ventriculomegaly	57526	PCDH19	OMIM:300088
HP:0002119	Ventriculomegaly	5859	QARS1	OMIM:615760
HP:0002119	Ventriculomegaly	5160	PDHA1	OMIM:312170
HP:0002119	Ventriculomegaly	5160	PDHA1	ORPHA:79243
HP:0002119	Ventriculomegaly	84162	BLTP1	OMIM:617822
HP:0002119	Ventriculomegaly	7280	TUBB2A	OMIM:615763
HP:0002119	Ventriculomegaly	8085	KMT2D	ORPHA:2322
HP:0002119	Ventriculomegaly	7403	KDM6A	ORPHA:2322
HP:0002119	Ventriculomegaly	998	CDC42	OMIM:616737
HP:0002119	Ventriculomegaly	998	CDC42	ORPHA:487796
HP:0002119	Ventriculomegaly	10982	MAPRE2	OMIM:616734
HP:0002119	Ventriculomegaly	101929726	MYMX	ORPHA:1358
HP:0002119	Ventriculomegaly	23511	NUP188	OMIM:618804
HP:0002119	Ventriculomegaly	80746	TSEN2	OMIM:612389
HP:0002119	Ventriculomegaly	80746	TSEN2	ORPHA:2524
HP:0002119	Ventriculomegaly	6469	SHH	OMIM:142945
HP:0002119	Ventriculomegaly	10943	MSL3	OMIM:301032
HP:0002119	Ventriculomegaly	8985	PLOD3	OMIM:612394
HP:0002119	Ventriculomegaly	57511	COG6	OMIM:614576
HP:0002119	Ventriculomegaly	124997	WDR81	OMIM:617967
HP:0002119	Ventriculomegaly	55644	OSGEP	OMIM:617729
HP:0002119	Ventriculomegaly	2313	FLI1	ORPHA:2308
HP:0002119	Ventriculomegaly	60	ACTB	OMIM:243310
HP:0002119	Ventriculomegaly	23476	BRD4	ORPHA:199
HP:0002119	Ventriculomegaly	9126	SMC3	ORPHA:199
HP:0002119	Ventriculomegaly	6878	TAF6	ORPHA:199
HP:0002119	Ventriculomegaly	25836	NIPBL	ORPHA:199
HP:0002119	Ventriculomegaly	9997	SCO2	OMIM:604377
HP:0002119	Ventriculomegaly	7874	USP7	ORPHA:500055
HP:0002119	Ventriculomegaly	71	ACTG1	OMIM:614583
HP:0002119	Ventriculomegaly	9150	CTDP1	ORPHA:48431
HP:0002119	Ventriculomegaly	57545	CC2D2A	OMIM:612285
HP:0002119	Ventriculomegaly	81689	ISCA1	OMIM:617613
HP:0002119	Ventriculomegaly	2737	GLI3	OMIM:175700
HP:0002119	Ventriculomegaly	22931	RAB18	OMIM:614222
HP:0002119	Ventriculomegaly	4337	MOCS1	OMIM:252150
HP:0002119	Ventriculomegaly	51002	TPRKB	OMIM:617731
HP:0002119	Ventriculomegaly	56270	WDR45B	OMIM:617977
HP:0002119	Ventriculomegaly	7305	TYROBP	ORPHA:2770
HP:0002119	Ventriculomegaly	54209	TREM2	ORPHA:2770
HP:0002119	Ventriculomegaly	25914	RTTN	ORPHA:468631
HP:0002119	Ventriculomegaly	8936	WASF1	OMIM:618707
HP:0002119	Ventriculomegaly	28514	DLL1	OMIM:618709
HP:0002119	Ventriculomegaly	80781	COL18A1	OMIM:267750
HP:0002119	Ventriculomegaly	7343	UBTF	ORPHA:500180
HP:0002119	Ventriculomegaly	5162	PDHB	ORPHA:255138
HP:0002119	Ventriculomegaly	5297	PI4KA	OMIM:616531
HP:0002119	Ventriculomegaly	122553	TRAPPC6B	OMIM:617862
HP:0002119	Ventriculomegaly	112752	IFT43	OMIM:617866
HP:0002119	Ventriculomegaly	10293	TRAIP	OMIM:616777
HP:0002119	Ventriculomegaly	283989	TSEN54	ORPHA:2524
HP:0002119	Ventriculomegaly	116461	TSEN15	ORPHA:2524
HP:0002119	Ventriculomegaly	79042	TSEN34	ORPHA:2524
HP:0002119	Ventriculomegaly	51091	SEPSECS	ORPHA:2524
HP:0002119	Ventriculomegaly	202018	TAPT1	OMIM:616897
HP:0002119	Ventriculomegaly	80210	ARMC9	OMIM:617622
HP:0002119	Ventriculomegaly	55704	CCDC88A	OMIM:617507
HP:0002119	Ventriculomegaly	55164	SHQ1	OMIM:619922
HP:0002119	Ventriculomegaly	100506658	OCLN	OMIM:251290
HP:0002119	Ventriculomegaly	113246	C12orf57	OMIM:218340
HP:0002119	Ventriculomegaly	5296	PIK3R2	OMIM:603387
HP:0002119	Ventriculomegaly	259266	ASPM	OMIM:608716
HP:0002119	Ventriculomegaly	259266	ASPM	ORPHA:2512
HP:0002119	Ventriculomegaly	7137	TNNI3	OMIM:115210
HP:0002119	Ventriculomegaly	7518	XRCC4	OMIM:616541
HP:0002119	Ventriculomegaly	440	ASNS	OMIM:615574
HP:0002119	Ventriculomegaly	374654	KIF7	OMIM:614120
HP:0002119	Ventriculomegaly	200205	IBA57	OMIM:615330
HP:0002119	Ventriculomegaly	84631	SLITRK2	OMIM:301107
HP:0002119	Ventriculomegaly	1284	COL4A2	OMIM:614483
HP:0002119	Ventriculomegaly	5116	PCNT	ORPHA:2637
HP:0002119	Ventriculomegaly	5879	RAC1	ORPHA:500159
HP:0002119	Ventriculomegaly	8777	MPDZ	OMIM:615219
HP:0002119	Ventriculomegaly	5430	POLR2A	OMIM:618603
HP:0002119	Ventriculomegaly	9928	KIF14	ORPHA:2512
HP:0002119	Ventriculomegaly	22995	CEP152	ORPHA:2512
HP:0002119	Ventriculomegaly	284403	WDR62	ORPHA:2512
HP:0002119	Ventriculomegaly	55262	TRAPPC14	ORPHA:2512
HP:0002119	Ventriculomegaly	163786	SASS6	ORPHA:2512
HP:0002119	Ventriculomegaly	29920	PYCR2	ORPHA:2512
HP:0002119	Ventriculomegaly	4176	MCM7	ORPHA:2512
HP:0002119	Ventriculomegaly	80254	CEP63	ORPHA:2512
HP:0002119	Ventriculomegaly	29081	METTL5	ORPHA:2512
HP:0002119	Ventriculomegaly	79023	NUP37	ORPHA:2512
HP:0002119	Ventriculomegaly	23310	NCAPD3	ORPHA:2512
HP:0002119	Ventriculomegaly	6301	SARS1	ORPHA:2512
HP:0002119	Ventriculomegaly	55755	CDK5RAP2	ORPHA:2512
HP:0002119	Ventriculomegaly	79648	MCPH1	ORPHA:2512
HP:0002119	Ventriculomegaly	6491	STIL	ORPHA:2512
HP:0002119	Ventriculomegaly	23141	ANKLE2	ORPHA:2512
HP:0002119	Ventriculomegaly	7109	TRAPPC10	ORPHA:2512
HP:0002119	Ventriculomegaly	7453	WARS1	ORPHA:2512
HP:0002119	Ventriculomegaly	1911	PHC1	ORPHA:2512
HP:0002119	Ventriculomegaly	1062	CENPE	ORPHA:2512
HP:0002119	Ventriculomegaly	6884	TAF13	ORPHA:2512
HP:0002119	Ventriculomegaly	9662	CEP135	ORPHA:2512
HP:0002119	Ventriculomegaly	57082	KNL1	ORPHA:2512
HP:0002119	Ventriculomegaly	1021	CDK6	ORPHA:2512
HP:0002119	Ventriculomegaly	23309	SIN3B	ORPHA:500166
HP:0002119	Ventriculomegaly	1968	EIF2S3	OMIM:300148
HP:0002119	Ventriculomegaly	51075	TMX2	OMIM:618730
HP:0002119	Ventriculomegaly	2902	GRIN1	OMIM:614254
HP:0002119	Ventriculomegaly	153241	CEP120	OMIM:617761
HP:0002119	Ventriculomegaly	92935	MARS2	OMIM:616430
HP:0002119	Ventriculomegaly	4281	MID1	ORPHA:2745
HP:0002119	Ventriculomegaly	523	ATP6V1A	OMIM:617403
HP:0002119	Ventriculomegaly	84148	KAT8	OMIM:618974
HP:0002119	Ventriculomegaly	55753	OGDHL	OMIM:619701
HP:0002119	Ventriculomegaly	3852	KRT5	ORPHA:79396
HP:0002119	Ventriculomegaly	3861	KRT14	ORPHA:79396
HP:0002119	Ventriculomegaly	58499	ZNF462	OMIM:618619
HP:0002119	Ventriculomegaly	246329	STAC3	OMIM:255995
HP:0002119	Ventriculomegaly	9990	SLC12A6	OMIM:218000
HP:0002119	Ventriculomegaly	4287	ATXN3	OMIM:109150
HP:0002119	Ventriculomegaly	4287	ATXN3	ORPHA:276244
HP:0002119	Ventriculomegaly	4287	ATXN3	ORPHA:276241
HP:0002119	Ventriculomegaly	4287	ATXN3	ORPHA:276238
HP:0002119	Ventriculomegaly	203068	TUBB	OMIM:615771
HP:0002119	Ventriculomegaly	116228	COX20	OMIM:619054
HP:0002119	Ventriculomegaly	9698	PUM1	OMIM:620719
HP:0002119	Ventriculomegaly	123606	NIPA1	ORPHA:261183
HP:0002119	Ventriculomegaly	7283	TUBG1	ORPHA:261183
HP:0002119	Ventriculomegaly	81614	NIPA2	ORPHA:261183
HP:0002119	Ventriculomegaly	26005	C2CD3	ORPHA:434179
HP:0002119	Ventriculomegaly	8573	CASK	OMIM:300749
HP:0002119	Ventriculomegaly	267010	RNU12	OMIM:620208
HP:0002119	Ventriculomegaly	4361	MRE11	ORPHA:251347
HP:0002119	Ventriculomegaly	91147	TMEM67	OMIM:610688
HP:0002119	Ventriculomegaly	79645	CLXN	OMIM:620642
HP:0002119	Ventriculomegaly	23203	PMPCA	OMIM:213200
HP:0002119	Ventriculomegaly	23203	PMPCA	ORPHA:1170
HP:0002119	Ventriculomegaly	6311	ATXN2	OMIM:183090
HP:0002119	Ventriculomegaly	80776	B9D2	OMIM:614175
HP:0002119	Ventriculomegaly	8550	MAPKAPK5	OMIM:619869
HP:0002119	Ventriculomegaly	284217	LAMA1	OMIM:615960
HP:0002119	Ventriculomegaly	284217	LAMA1	ORPHA:370022
HP:0002119	Ventriculomegaly	2911	GRM1	OMIM:614831
HP:0002119	Ventriculomegaly	55770	EXOC2	OMIM:619306
HP:0002119	Ventriculomegaly	79971	WLS	OMIM:619648
HP:0002119	Ventriculomegaly	6310	ATXN1	OMIM:164400
HP:0002119	Ventriculomegaly	5373	PMM2	OMIM:212065
HP:0002119	Ventriculomegaly	81555	YIPF5	OMIM:619278
HP:0002119	Ventriculomegaly	10466	COG5	ORPHA:263487
HP:0002119	Ventriculomegaly	10159	ATP6AP2	ORPHA:363654
HP:0002119	Ventriculomegaly	4750	NEK1	OMIM:263520
HP:0002119	Ventriculomegaly	100151683	RNU4ATAC	OMIM:210710
HP:0002119	Ventriculomegaly	7355	SLC35A2	ORPHA:356961
HP:0002119	Ventriculomegaly	7355	SLC35A2	OMIM:300896
HP:0002119	Ventriculomegaly	7545	ZIC1	OMIM:616602
HP:0002119	Ventriculomegaly	7545	ZIC1	OMIM:618736
HP:0002119	Ventriculomegaly	253738	EBF3	ORPHA:96148
HP:0002119	Ventriculomegaly	80816	ASXL3	OMIM:615485
HP:0002119	Ventriculomegaly	1841	DTYMK	OMIM:619847
HP:0002119	Ventriculomegaly	23291	FBXW11	OMIM:618914
HP:0002119	Ventriculomegaly	4953	ODC1	ORPHA:544488
HP:0002119	Ventriculomegaly	57505	AARS2	OMIM:615889
HP:0002119	Ventriculomegaly	8893	EIF2B5	OMIM:620315
HP:0002119	Ventriculomegaly	24142	NAA80	OMIM:620830
HP:0002119	Ventriculomegaly	9382	COG1	OMIM:611209
HP:0002119	Ventriculomegaly	90161	HS6ST2	OMIM:301025
HP:0002119	Ventriculomegaly	57551	TAOK1	OMIM:619575
HP:0002119	Ventriculomegaly	129685	TAF8	OMIM:619972
HP:0002119	Ventriculomegaly	10588	MTHFS	OMIM:618367
HP:0002119	Ventriculomegaly	8792	TNFRSF11A	OMIM:612301
HP:0002119	Ventriculomegaly	54806	AHI1	OMIM:608629
HP:0002119	Ventriculomegaly	80311	KLHL15	OMIM:300982
HP:0002119	Ventriculomegaly	25930	PTPN23	OMIM:618890
HP:0002119	Ventriculomegaly	80208	SPG11	ORPHA:2822
HP:0002119	Ventriculomegaly	1641	DCX	ORPHA:2148
HP:0002119	Ventriculomegaly	23230	VPS13A	ORPHA:2388
HP:0002119	Ventriculomegaly	23230	VPS13A	OMIM:200150
HP:0002119	Ventriculomegaly	200734	SPRED2	OMIM:619745
HP:0002119	Ventriculomegaly	2752	GLUL	OMIM:610015
HP:0002119	Ventriculomegaly	57572	DOCK6	OMIM:614219
HP:0002119	Ventriculomegaly	80347	COASY	OMIM:618266
HP:0002119	Ventriculomegaly	56006	SMG9	OMIM:619995
HP:0002119	Ventriculomegaly	54539	NDUFB11	OMIM:300952
HP:0002119	Ventriculomegaly	1182	CLCN3	OMIM:619517
HP:0002119	Ventriculomegaly	1213	CLTC	OMIM:617854
HP:0002119	Ventriculomegaly	4329	ALDH6A1	OMIM:614105
HP:0002119	Ventriculomegaly	93210	PGAP3	OMIM:615716
HP:0002119	Ventriculomegaly	2896	GRN	OMIM:607485
HP:0002119	Ventriculomegaly	26576	SRPK3	OMIM:301134
HP:0002119	Ventriculomegaly	284252	KCTD1	OMIM:181270
HP:0002119	Ventriculomegaly	728294	D2HGDH	OMIM:600721
HP:0002119	Ventriculomegaly	91875	TTC5	OMIM:619244
HP:0002119	Ventriculomegaly	7443	VRK1	OMIM:607596
HP:0002119	Ventriculomegaly	51244	CCDC174	OMIM:616816
HP:0002119	Ventriculomegaly	10430	TMEM147	OMIM:620075
HP:0002119	Ventriculomegaly	79989	IFT56	OMIM:619534
HP:0002119	Ventriculomegaly	738	VPS51	OMIM:618606
HP:0002119	Ventriculomegaly	4087	SMAD2	OMIM:619657
HP:0002119	Ventriculomegaly	8139	GAN	OMIM:256850
HP:0002119	Ventriculomegaly	1523	CUX1	OMIM:618330
HP:0002119	Ventriculomegaly	3763	KCNJ6	OMIM:614098
HP:0002119	Ventriculomegaly	22930	RAB3GAP1	OMIM:619420
HP:0002119	Ventriculomegaly	90952	ESAM	OMIM:620371
HP:0002119	Ventriculomegaly	3781	KCNN2	OMIM:619725
HP:0002119	Ventriculomegaly	1786	DNMT1	ORPHA:314404
HP:0002119	Ventriculomegaly	51021	MRPS16	OMIM:610498
HP:0002119	Ventriculomegaly	9578	CDC42BPB	OMIM:619841
HP:0002119	Ventriculomegaly	51259	TMEM216	OMIM:608091
HP:0002119	Ventriculomegaly	56623	INPP5E	OMIM:213300
HP:0002119	Ventriculomegaly	79029	AFG2B	OMIM:619616
HP:0002119	Ventriculomegaly	80055	PGAP1	OMIM:615802
HP:0001382	Joint hypermobility	57479	PRR12	OMIM:619539
HP:0001382	Joint hypermobility	6611	SMS	OMIM:309583
HP:0001382	Joint hypermobility	91461	PKDCC	OMIM:618821
HP:0001382	Joint hypermobility	51633	OTUD6B	ORPHA:505237
HP:0001382	Joint hypermobility	23114	NFASC	OMIM:618356
HP:0001382	Joint hypermobility	427	ASAH1	OMIM:228000
HP:0001382	Joint hypermobility	8036	SHOC2	OMIM:607721
HP:0001382	Joint hypermobility	11253	MAN1B1	ORPHA:397941
HP:0001382	Joint hypermobility	11253	MAN1B1	OMIM:614202
HP:0001382	Joint hypermobility	23394	ADNP	ORPHA:404448
HP:0001382	Joint hypermobility	23394	ADNP	OMIM:615873
HP:0001382	Joint hypermobility	8367	H4C5	OMIM:619950
HP:0001382	Joint hypermobility	8294	H4C9	OMIM:619951
HP:0001382	Joint hypermobility	5728	PTEN	OMIM:605309
HP:0001382	Joint hypermobility	5728	PTEN	ORPHA:109
HP:0001382	Joint hypermobility	9853	RUSC2	OMIM:617773
HP:0001382	Joint hypermobility	23135	KDM6B	OMIM:618505
HP:0001382	Joint hypermobility	8425	LTBP4	OMIM:613177
HP:0001382	Joint hypermobility	1947	EFNB1	ORPHA:1520
HP:0001382	Joint hypermobility	1947	EFNB1	OMIM:304110
HP:0001382	Joint hypermobility	6938	TCF12	OMIM:619718
HP:0001382	Joint hypermobility	9820	CUL7	ORPHA:2616
HP:0001382	Joint hypermobility	9820	CUL7	OMIM:273750
HP:0001382	Joint hypermobility	23363	OBSL1	ORPHA:2616
HP:0001382	Joint hypermobility	83987	CCDC8	ORPHA:2616
HP:0001382	Joint hypermobility	83987	CCDC8	OMIM:614205
HP:0001382	Joint hypermobility	538	ATP7A	OMIM:304150
HP:0001382	Joint hypermobility	538	ATP7A	ORPHA:565
HP:0001382	Joint hypermobility	538	ATP7A	OMIM:309400
HP:0001382	Joint hypermobility	538	ATP7A	ORPHA:198
HP:0001382	Joint hypermobility	1788	DNMT3A	ORPHA:404443
HP:0001382	Joint hypermobility	3190	HNRNPK	ORPHA:453504
HP:0001382	Joint hypermobility	3190	HNRNPK	ORPHA:352665
HP:0001382	Joint hypermobility	4125	MAN2B1	ORPHA:309282
HP:0001382	Joint hypermobility	10743	RAI1	ORPHA:477817
HP:0001382	Joint hypermobility	197131	UBR1	OMIM:243800
HP:0001382	Joint hypermobility	9578	CDC42BPB	OMIM:619841
HP:0001382	Joint hypermobility	3020	H3-3A	OMIM:619720
HP:0001382	Joint hypermobility	3021	H3-3B	OMIM:619721
HP:0001382	Joint hypermobility	6536	SLC6A9	OMIM:617301
HP:0001382	Joint hypermobility	64412	GZF1	OMIM:617662
HP:0001382	Joint hypermobility	55790	CSGALNACT1	OMIM:618870
HP:0001382	Joint hypermobility	55790	CSGALNACT1	ORPHA:1425
HP:0001382	Joint hypermobility	283489	CHAMP1	OMIM:616579
HP:0001382	Joint hypermobility	27245	AHDC1	ORPHA:412069
HP:0001382	Joint hypermobility	8239	USP9X	OMIM:300919
HP:0001382	Joint hypermobility	8239	USP9X	OMIM:300968
HP:0001382	Joint hypermobility	8239	USP9X	ORPHA:480880
HP:0001382	Joint hypermobility	7532	YWHAG	OMIM:617665
HP:0001382	Joint hypermobility	28960	DCPS	OMIM:616459
HP:0001382	Joint hypermobility	55768	NGLY1	ORPHA:404454
HP:0001382	Joint hypermobility	57539	WDR35	ORPHA:1515
HP:0001382	Joint hypermobility	57539	WDR35	OMIM:613610
HP:0001382	Joint hypermobility	112752	IFT43	ORPHA:1515
HP:0001382	Joint hypermobility	112752	IFT43	OMIM:614099
HP:0001382	Joint hypermobility	51098	IFT52	ORPHA:1515
HP:0001382	Joint hypermobility	55764	IFT122	ORPHA:1515
HP:0001382	Joint hypermobility	55764	IFT122	OMIM:218330
HP:0001382	Joint hypermobility	57728	WDR19	ORPHA:1515
HP:0001382	Joint hypermobility	57728	WDR19	OMIM:614378
HP:0001382	Joint hypermobility	64175	P3H1	OMIM:610915
HP:0001382	Joint hypermobility	137492	VPS37A	ORPHA:319199
HP:0001382	Joint hypermobility	137492	VPS37A	OMIM:614898
HP:0001382	Joint hypermobility	6023	RMRP	ORPHA:175
HP:0001382	Joint hypermobility	6023	RMRP	OMIM:250250
HP:0001382	Joint hypermobility	6023	RMRP	OMIM:250460
HP:0001382	Joint hypermobility	6023	RMRP	OMIM:607095
HP:0001382	Joint hypermobility	716	C1S	ORPHA:75392
HP:0001382	Joint hypermobility	716	C1S	OMIM:617174
HP:0001382	Joint hypermobility	715	C1R	ORPHA:75392
HP:0001382	Joint hypermobility	715	C1R	OMIM:130080
HP:0001382	Joint hypermobility	284058	KANSL1	ORPHA:363958
HP:0001382	Joint hypermobility	284058	KANSL1	OMIM:610443
HP:0001382	Joint hypermobility	284058	KANSL1	ORPHA:363965
HP:0001382	Joint hypermobility	54453	RIN2	OMIM:613075
HP:0001382	Joint hypermobility	54453	RIN2	ORPHA:217335
HP:0001382	Joint hypermobility	9698	PUM1	OMIM:620719
HP:0001382	Joint hypermobility	815	CAMK2A	OMIM:617798
HP:0001382	Joint hypermobility	4853	NOTCH2	OMIM:102500
HP:0001382	Joint hypermobility	4853	NOTCH2	ORPHA:955
HP:0001382	Joint hypermobility	10381	TUBB3	ORPHA:300570
HP:0001382	Joint hypermobility	90993	CREB3L1	OMIM:616229
HP:0001382	Joint hypermobility	157680	VPS13B	OMIM:216550
HP:0001382	Joint hypermobility	157680	VPS13B	ORPHA:193
HP:0001382	Joint hypermobility	6872	TAF1	ORPHA:480907
HP:0001382	Joint hypermobility	6872	TAF1	OMIM:300966
HP:0001382	Joint hypermobility	1281	COL3A1	ORPHA:286
HP:0001382	Joint hypermobility	1281	COL3A1	OMIM:618343
HP:0001382	Joint hypermobility	1281	COL3A1	OMIM:130050
HP:0001382	Joint hypermobility	1281	COL3A1	ORPHA:2500
HP:0001382	Joint hypermobility	10484	SEC23A	OMIM:607812
HP:0001382	Joint hypermobility	10484	SEC23A	ORPHA:50814
HP:0001382	Joint hypermobility	8726	EED	OMIM:617561
HP:0001382	Joint hypermobility	4763	NF1	ORPHA:363700
HP:0001382	Joint hypermobility	1303	COL12A1	OMIM:616470
HP:0001382	Joint hypermobility	1303	COL12A1	ORPHA:610
HP:0001382	Joint hypermobility	1303	COL12A1	ORPHA:536516
HP:0001382	Joint hypermobility	11107	PRDM5	OMIM:614170
HP:0001382	Joint hypermobility	11107	PRDM5	ORPHA:90354
HP:0001382	Joint hypermobility	1501	CTNND2	ORPHA:281
HP:0001382	Joint hypermobility	9037	SEMA5A	ORPHA:281
HP:0001382	Joint hypermobility	1280	COL2A1	ORPHA:90653
HP:0001382	Joint hypermobility	1280	COL2A1	OMIM:108300
HP:0001382	Joint hypermobility	54872	PIGG	ORPHA:488635
HP:0001382	Joint hypermobility	57178	ZMIZ1	OMIM:618659
HP:0001382	Joint hypermobility	2783	GNB2	OMIM:619503
HP:0001382	Joint hypermobility	64132	XYLT2	ORPHA:85194
HP:0001382	Joint hypermobility	26057	ANKRD17	OMIM:619504
HP:0001382	Joint hypermobility	9731	CEP104	OMIM:619988
HP:0001382	Joint hypermobility	8642	DCHS1	OMIM:601390
HP:0001382	Joint hypermobility	3981	LIG4	ORPHA:235
HP:0001382	Joint hypermobility	54888	NSUN2	ORPHA:235
HP:0001382	Joint hypermobility	6261	RYR1	ORPHA:597
HP:0001382	Joint hypermobility	6261	RYR1	OMIM:619542
HP:0001382	Joint hypermobility	6261	RYR1	ORPHA:178145
HP:0001382	Joint hypermobility	6261	RYR1	OMIM:255320
HP:0001382	Joint hypermobility	6261	RYR1	ORPHA:98905
HP:0001382	Joint hypermobility	92482	BBIP1	ORPHA:110
HP:0001382	Joint hypermobility	80184	CEP290	ORPHA:110
HP:0001382	Joint hypermobility	11020	IFT27	ORPHA:110
HP:0001382	Joint hypermobility	582	BBS1	ORPHA:110
HP:0001382	Joint hypermobility	49855	SCAPER	ORPHA:110
HP:0001382	Joint hypermobility	4867	NPHP1	ORPHA:110
HP:0001382	Joint hypermobility	51057	WDPCP	ORPHA:110
HP:0001382	Joint hypermobility	132320	SCLT1	ORPHA:110
HP:0001382	Joint hypermobility	27241	BBS9	ORPHA:110
HP:0001382	Joint hypermobility	84984	CEP19	ORPHA:110
HP:0001382	Joint hypermobility	22954	TRIM32	ORPHA:110
HP:0001382	Joint hypermobility	54903	MKS1	ORPHA:110
HP:0001382	Joint hypermobility	54903	MKS1	OMIM:617121
HP:0001382	Joint hypermobility	79738	BBS10	ORPHA:110
HP:0001382	Joint hypermobility	123016	TTC8	ORPHA:110
HP:0001382	Joint hypermobility	26160	IFT172	ORPHA:110
HP:0001382	Joint hypermobility	583	BBS2	ORPHA:110
HP:0001382	Joint hypermobility	585	BBS4	ORPHA:110
HP:0001382	Joint hypermobility	8195	MKKS	ORPHA:110
HP:0001382	Joint hypermobility	54585	LZTFL1	ORPHA:110
HP:0001382	Joint hypermobility	55212	BBS7	ORPHA:110
HP:0001382	Joint hypermobility	166379	BBS12	ORPHA:110
HP:0001382	Joint hypermobility	10806	SDCCAG8	ORPHA:110
HP:0001382	Joint hypermobility	157657	CFAP418	ORPHA:110
HP:0001382	Joint hypermobility	84100	ARL6	ORPHA:110
HP:0001382	Joint hypermobility	129880	BBS5	ORPHA:110
HP:0001382	Joint hypermobility	80173	IFT74	ORPHA:110
HP:0001382	Joint hypermobility	11285	B4GALT7	OMIM:130070
HP:0001382	Joint hypermobility	11285	B4GALT7	ORPHA:75496
HP:0001382	Joint hypermobility	5518	PPP2R1A	OMIM:616362
HP:0001382	Joint hypermobility	5518	PPP2R1A	ORPHA:457284
HP:0001382	Joint hypermobility	3572	IL6ST	OMIM:619752
HP:0001382	Joint hypermobility	7862	BRPF1	OMIM:617333
HP:0001382	Joint hypermobility	23126	POGZ	OMIM:616364
HP:0001382	Joint hypermobility	23126	POGZ	ORPHA:468678
HP:0001382	Joint hypermobility	54914	FOCAD	OMIM:619991
HP:0001382	Joint hypermobility	8558	CDK10	OMIM:617694
HP:0001382	Joint hypermobility	55699	IARS2	OMIM:616007
HP:0001382	Joint hypermobility	7058	THBS2	OMIM:620865
HP:0001382	Joint hypermobility	1311	COMP	OMIM:177170
HP:0001382	Joint hypermobility	1311	COMP	ORPHA:750
HP:0001382	Joint hypermobility	5605	MAP2K2	OMIM:615280
HP:0001382	Joint hypermobility	26137	ZBTB20	OMIM:259050
HP:0001382	Joint hypermobility	7750	ZMYM2	OMIM:619522
HP:0001382	Joint hypermobility	53335	BCL11A	OMIM:617101
HP:0001382	Joint hypermobility	1742	DLG4	OMIM:618793
HP:0001382	Joint hypermobility	200424	TET3	OMIM:618798
HP:0001382	Joint hypermobility	57466	SCAF4	OMIM:620511
HP:0001382	Joint hypermobility	540	ATP7B	OMIM:277900
HP:0001382	Joint hypermobility	124583	CANT1	OMIM:251450
HP:0001382	Joint hypermobility	124583	CANT1	ORPHA:1425
HP:0001382	Joint hypermobility	84627	ZNF469	ORPHA:90354
HP:0001382	Joint hypermobility	84627	ZNF469	OMIM:229200
HP:0001382	Joint hypermobility	23314	SATB2	ORPHA:576283
HP:0001382	Joint hypermobility	23314	SATB2	ORPHA:251019
HP:0001382	Joint hypermobility	5373	PMM2	ORPHA:79318
HP:0001382	Joint hypermobility	3835	KIF22	OMIM:603546
HP:0001382	Joint hypermobility	3835	KIF22	ORPHA:93360
HP:0001382	Joint hypermobility	4000	LMNA	ORPHA:157973
HP:0001382	Joint hypermobility	6843	VAMP1	OMIM:618323
HP:0001382	Joint hypermobility	6843	VAMP1	ORPHA:98914
HP:0001382	Joint hypermobility	54941	RNF125	OMIM:616260
HP:0001382	Joint hypermobility	79989	IFT56	OMIM:619534
HP:0001382	Joint hypermobility	85365	ALG2	OMIM:607906
HP:0001382	Joint hypermobility	85365	ALG2	ORPHA:353327
HP:0001382	Joint hypermobility	23483	TGDS	OMIM:616145
HP:0001382	Joint hypermobility	23483	TGDS	ORPHA:1388
HP:0001382	Joint hypermobility	6709	SPTAN1	OMIM:620528
HP:0001382	Joint hypermobility	6709	SPTAN1	OMIM:620538
HP:0001382	Joint hypermobility	8565	YARS1	OMIM:619418
HP:0001382	Joint hypermobility	84168	ANTXR1	OMIM:230740
HP:0001382	Joint hypermobility	84168	ANTXR1	ORPHA:2067
HP:0001382	Joint hypermobility	51227	PIGP	OMIM:617599
HP:0001382	Joint hypermobility	2006	ELN	ORPHA:90348
HP:0001382	Joint hypermobility	2006	ELN	ORPHA:904
HP:0001382	Joint hypermobility	2006	ELN	OMIM:194050
HP:0001382	Joint hypermobility	10516	FBLN5	ORPHA:90348
HP:0001382	Joint hypermobility	10516	FBLN5	ORPHA:90349
HP:0001382	Joint hypermobility	10516	FBLN5	OMIM:608895
HP:0001382	Joint hypermobility	10516	FBLN5	OMIM:219100
HP:0001382	Joint hypermobility	5832	ALDH18A1	ORPHA:90348
HP:0001382	Joint hypermobility	5832	ALDH18A1	ORPHA:35664
HP:0001382	Joint hypermobility	5832	ALDH18A1	OMIM:219150
HP:0001382	Joint hypermobility	5832	ALDH18A1	OMIM:616603
HP:0001382	Joint hypermobility	4052	LTBP1	ORPHA:90349
HP:0001382	Joint hypermobility	4052	LTBP1	OMIM:619451
HP:0001382	Joint hypermobility	30008	EFEMP2	ORPHA:90349
HP:0001382	Joint hypermobility	30008	EFEMP2	OMIM:614437
HP:0001382	Joint hypermobility	4087	SMAD2	OMIM:619656
HP:0001382	Joint hypermobility	4087	SMAD2	ORPHA:60030
HP:0001382	Joint hypermobility	1107	CHD3	OMIM:618205
HP:0001382	Joint hypermobility	84295	PHF6	ORPHA:127
HP:0001382	Joint hypermobility	387733	IFITM5	OMIM:610967
HP:0001382	Joint hypermobility	60681	FKBP10	OMIM:610968
HP:0001382	Joint hypermobility	60681	FKBP10	OMIM:259450
HP:0001382	Joint hypermobility	1387	CREBBP	OMIM:618332
HP:0001382	Joint hypermobility	1387	CREBBP	ORPHA:353281
HP:0001382	Joint hypermobility	1387	CREBBP	OMIM:180849
HP:0001382	Joint hypermobility	1387	CREBBP	ORPHA:353277
HP:0001382	Joint hypermobility	2033	EP300	OMIM:618333
HP:0001382	Joint hypermobility	2033	EP300	ORPHA:353284
HP:0001382	Joint hypermobility	2033	EP300	OMIM:180849
HP:0001382	Joint hypermobility	4883	NPR3	OMIM:619543
HP:0001382	Joint hypermobility	8621	CDK13	OMIM:617360
HP:0001382	Joint hypermobility	93587	TRMT10A	OMIM:616033
HP:0001382	Joint hypermobility	93587	TRMT10A	ORPHA:391408
HP:0001382	Joint hypermobility	7046	TGFBR1	OMIM:609192
HP:0001382	Joint hypermobility	7046	TGFBR1	ORPHA:60030
HP:0001382	Joint hypermobility	1642	DDB1	OMIM:619426
HP:0001382	Joint hypermobility	5908	RAP1B	OMIM:620654
HP:0001382	Joint hypermobility	164	AP1G1	OMIM:619548
HP:0001382	Joint hypermobility	27145	FILIP1	OMIM:620775
HP:0001382	Joint hypermobility	5910	RAP1GDS1	OMIM:620655
HP:0001382	Joint hypermobility	6857	SYT1	OMIM:618218
HP:0001382	Joint hypermobility	6857	SYT1	ORPHA:522077
HP:0001382	Joint hypermobility	81603	TRIM8	OMIM:619428
HP:0001382	Joint hypermobility	9949	AMMECR1	OMIM:300990
HP:0001382	Joint hypermobility	4088	SMAD3	ORPHA:284984
HP:0001382	Joint hypermobility	4088	SMAD3	OMIM:613795
HP:0001382	Joint hypermobility	4088	SMAD3	ORPHA:60030
HP:0001382	Joint hypermobility	388015	RTL1	ORPHA:254531
HP:0001382	Joint hypermobility	388015	RTL1	ORPHA:254528
HP:0001382	Joint hypermobility	388015	RTL1	ORPHA:96184
HP:0001382	Joint hypermobility	8788	DLK1	ORPHA:254531
HP:0001382	Joint hypermobility	8788	DLK1	ORPHA:254528
HP:0001382	Joint hypermobility	8788	DLK1	ORPHA:96184
HP:0001382	Joint hypermobility	55384	MEG3	ORPHA:254531
HP:0001382	Joint hypermobility	55384	MEG3	ORPHA:254528
HP:0001382	Joint hypermobility	55384	MEG3	ORPHA:96184
HP:0001382	Joint hypermobility	65992	DDRGK1	OMIM:602557
HP:0001382	Joint hypermobility	65992	DDRGK1	ORPHA:93352
HP:0001382	Joint hypermobility	8925	HERC1	OMIM:617011
HP:0001382	Joint hypermobility	8925	HERC1	ORPHA:457359
HP:0001382	Joint hypermobility	1291	COL6A1	OMIM:254090
HP:0001382	Joint hypermobility	1291	COL6A1	ORPHA:610
HP:0001382	Joint hypermobility	5351	PLOD1	OMIM:225400
HP:0001382	Joint hypermobility	5351	PLOD1	ORPHA:1900
HP:0001382	Joint hypermobility	56896	DPYSL5	OMIM:619435
HP:0001382	Joint hypermobility	57102	FERRY3	OMIM:618221
HP:0001382	Joint hypermobility	79912	PYROXD1	OMIM:617258
HP:0001382	Joint hypermobility	92335	STRADA	ORPHA:500533
HP:0001382	Joint hypermobility	92335	STRADA	OMIM:611087
HP:0001382	Joint hypermobility	6418	SET	OMIM:618106
HP:0001382	Joint hypermobility	84320	ACBD6	OMIM:620785
HP:0001382	Joint hypermobility	2261	FGFR3	ORPHA:429
HP:0001382	Joint hypermobility	2261	FGFR3	ORPHA:93274
HP:0001382	Joint hypermobility	2200	FBN1	ORPHA:284979
HP:0001382	Joint hypermobility	2200	FBN1	ORPHA:2462
HP:0001382	Joint hypermobility	2200	FBN1	OMIM:129600
HP:0001382	Joint hypermobility	2200	FBN1	OMIM:154700
HP:0001382	Joint hypermobility	50814	NSDHL	ORPHA:251383
HP:0001382	Joint hypermobility	50814	NSDHL	OMIM:300831
HP:0001382	Joint hypermobility	2202	EFEMP1	OMIM:620780
HP:0001382	Joint hypermobility	128869	PIGU	OMIM:618590
HP:0001382	Joint hypermobility	1301	COL11A1	OMIM:604841
HP:0001382	Joint hypermobility	29998	BICRA	OMIM:619325
HP:0001382	Joint hypermobility	6651	SON	OMIM:617140
HP:0001382	Joint hypermobility	6651	SON	ORPHA:500150
HP:0001382	Joint hypermobility	1654	DDX3X	ORPHA:457260
HP:0001382	Joint hypermobility	1289	COL5A1	OMIM:619329
HP:0001382	Joint hypermobility	1289	COL5A1	OMIM:130000
HP:0001382	Joint hypermobility	4041	LRP5	OMIM:259770
HP:0001382	Joint hypermobility	4041	LRP5	ORPHA:2788
HP:0001382	Joint hypermobility	25885	POLR1A	OMIM:620675
HP:0001382	Joint hypermobility	10073	SNUPN	OMIM:620793
HP:0001382	Joint hypermobility	176	ACAN	OMIM:612813
HP:0001382	Joint hypermobility	176	ACAN	ORPHA:171866
HP:0001382	Joint hypermobility	51114	ZDHHC9	ORPHA:776
HP:0001382	Joint hypermobility	65109	UPF3B	ORPHA:776
HP:0001382	Joint hypermobility	9968	MED12	ORPHA:776
HP:0001382	Joint hypermobility	9968	MED12	OMIM:309520
HP:0001382	Joint hypermobility	9968	MED12	OMIM:300895
HP:0001382	Joint hypermobility	4952	OCRL	ORPHA:534
HP:0001382	Joint hypermobility	4952	OCRL	OMIM:309000
HP:0001382	Joint hypermobility	57551	TAOK1	OMIM:619575
HP:0001382	Joint hypermobility	22930	RAB3GAP1	OMIM:600118
HP:0001382	Joint hypermobility	537	ATP6AP1	OMIM:300972
HP:0001382	Joint hypermobility	4141	MARS1	OMIM:619692
HP:0001382	Joint hypermobility	4998	ORC1	OMIM:224690
HP:0001382	Joint hypermobility	4998	ORC1	ORPHA:2554
HP:0001382	Joint hypermobility	1621	DBH	OMIM:223360
HP:0001382	Joint hypermobility	84068	SLC10A7	OMIM:618363
HP:0001382	Joint hypermobility	165	AEBP1	OMIM:618000
HP:0001382	Joint hypermobility	165	AEBP1	ORPHA:536532
HP:0001382	Joint hypermobility	8200	GDF5	ORPHA:63442
HP:0001382	Joint hypermobility	5831	PYCR1	OMIM:612940
HP:0001382	Joint hypermobility	5831	PYCR1	ORPHA:2078
HP:0001382	Joint hypermobility	3376	IARS1	ORPHA:541423
HP:0001382	Joint hypermobility	3376	IARS1	OMIM:617093
HP:0001382	Joint hypermobility	2019	EN1	OMIM:619218
HP:0001382	Joint hypermobility	29920	PYCR2	ORPHA:481152
HP:0001382	Joint hypermobility	9719	ADAMTSL2	ORPHA:1901
HP:0001382	Joint hypermobility	9509	ADAMTS2	ORPHA:1901
HP:0001382	Joint hypermobility	9509	ADAMTS2	OMIM:225410
HP:0001382	Joint hypermobility	1312	COMT	ORPHA:567
HP:0001382	Joint hypermobility	221037	JMJD1C	ORPHA:567
HP:0001382	Joint hypermobility	2812	GP1BB	ORPHA:567
HP:0001382	Joint hypermobility	6239	RREB1	ORPHA:567
HP:0001382	Joint hypermobility	6899	TBX1	ORPHA:567
HP:0001382	Joint hypermobility	7290	HIRA	ORPHA:567
HP:0001382	Joint hypermobility	9632	SEC24C	ORPHA:567
HP:0001382	Joint hypermobility	7353	UFD1	ORPHA:567
HP:0001382	Joint hypermobility	421	ARVCF	ORPHA:567
HP:0001382	Joint hypermobility	444	ASPH	OMIM:601552
HP:0001382	Joint hypermobility	22827	PUF60	ORPHA:508488
HP:0001382	Joint hypermobility	22827	PUF60	OMIM:615583
HP:0001382	Joint hypermobility	3265	HRAS	ORPHA:3071
HP:0001382	Joint hypermobility	80324	PUS1	OMIM:600462
HP:0001382	Joint hypermobility	7703	PCGF2	OMIM:618371
HP:0001382	Joint hypermobility	23111	SPART	ORPHA:101000
HP:0001382	Joint hypermobility	25942	SIN3A	ORPHA:94065
HP:0001382	Joint hypermobility	25942	SIN3A	OMIM:613406
HP:0001382	Joint hypermobility	25942	SIN3A	ORPHA:500166
HP:0001382	Joint hypermobility	4784	NFIX	ORPHA:561
HP:0001382	Joint hypermobility	1277	COL1A1	OMIM:130060
HP:0001382	Joint hypermobility	1277	COL1A1	OMIM:619115
HP:0001382	Joint hypermobility	1277	COL1A1	OMIM:166200
HP:0001382	Joint hypermobility	1277	COL1A1	OMIM:114000
HP:0001382	Joint hypermobility	1277	COL1A1	ORPHA:1899
HP:0001382	Joint hypermobility	372	ARCN1	OMIM:617164
HP:0001382	Joint hypermobility	633	BGN	OMIM:300989
HP:0001382	Joint hypermobility	633	BGN	OMIM:300106
HP:0001382	Joint hypermobility	1822	ATN1	OMIM:618494
HP:0001382	Joint hypermobility	4015	LOX	OMIM:617168
HP:0001382	Joint hypermobility	7403	KDM6A	OMIM:300867
HP:0001382	Joint hypermobility	7403	KDM6A	OMIM:147920
HP:0001382	Joint hypermobility	7403	KDM6A	ORPHA:2322
HP:0001382	Joint hypermobility	2332	FMR1	OMIM:300624
HP:0001382	Joint hypermobility	2332	FMR1	ORPHA:908
HP:0001382	Joint hypermobility	2332	FMR1	ORPHA:449291
HP:0001382	Joint hypermobility	3188	HNRNPH2	OMIM:300986
HP:0001382	Joint hypermobility	5144	PDE4D	ORPHA:439822
HP:0001382	Joint hypermobility	5000	ORC4	OMIM:613800
HP:0001382	Joint hypermobility	5000	ORC4	ORPHA:2554
HP:0001382	Joint hypermobility	6304	SATB1	OMIM:619229
HP:0001382	Joint hypermobility	3930	LBR	OMIM:618019
HP:0001382	Joint hypermobility	8883	NAE1	OMIM:620210
HP:0001382	Joint hypermobility	6874	TAF4	OMIM:620450
HP:0001382	Joint hypermobility	64864	RFX7	OMIM:620330
HP:0001382	Joint hypermobility	79718	TBL1XR1	ORPHA:487825
HP:0001382	Joint hypermobility	2316	FLNA	ORPHA:75497
HP:0001382	Joint hypermobility	2316	FLNA	ORPHA:555877
HP:0001382	Joint hypermobility	2316	FLNA	OMIM:314400
HP:0001382	Joint hypermobility	2316	FLNA	ORPHA:98892
HP:0001382	Joint hypermobility	2316	FLNA	ORPHA:2484
HP:0001382	Joint hypermobility	9321	TRIP11	ORPHA:166272
HP:0001382	Joint hypermobility	9321	TRIP11	OMIM:184260
HP:0001382	Joint hypermobility	9791	PTDSS1	OMIM:151050
HP:0001382	Joint hypermobility	9791	PTDSS1	ORPHA:2658
HP:0001382	Joint hypermobility	4882	NPR2	OMIM:602875
HP:0001382	Joint hypermobility	4882	NPR2	ORPHA:40
HP:0001382	Joint hypermobility	84265	POLR3GL	OMIM:619234
HP:0001382	Joint hypermobility	57003	CCDC47	OMIM:618268
HP:0001382	Joint hypermobility	57187	THOC2	OMIM:300957
HP:0001382	Joint hypermobility	134218	DNAJC21	OMIM:617052
HP:0001382	Joint hypermobility	57061	HYMAI	ORPHA:96191
HP:0001382	Joint hypermobility	5325	PLAGL1	ORPHA:96191
HP:0001382	Joint hypermobility	10526	IPO8	OMIM:619472
HP:0001382	Joint hypermobility	10526	IPO8	ORPHA:60030
HP:0001382	Joint hypermobility	2892	GRIA3	ORPHA:364028
HP:0001382	Joint hypermobility	1278	COL1A2	OMIM:225320
HP:0001382	Joint hypermobility	1278	COL1A2	OMIM:619120
HP:0001382	Joint hypermobility	1278	COL1A2	ORPHA:230851
HP:0001382	Joint hypermobility	1278	COL1A2	OMIM:617821
HP:0001382	Joint hypermobility	1278	COL1A2	ORPHA:1899
HP:0001382	Joint hypermobility	10847	SRCAP	OMIM:619595
HP:0001382	Joint hypermobility	10847	SRCAP	OMIM:136140
HP:0001382	Joint hypermobility	94005	PIGS	OMIM:618143
HP:0001382	Joint hypermobility	51604	PIGT	ORPHA:369837
HP:0001382	Joint hypermobility	145173	B3GLCT	OMIM:261540
HP:0001382	Joint hypermobility	6711	SPTBN1	OMIM:619475
HP:0001382	Joint hypermobility	92002	CCNQ	OMIM:300707
HP:0001382	Joint hypermobility	4361	MRE11	ORPHA:251347
HP:0001382	Joint hypermobility	1836	SLC26A2	ORPHA:628
HP:0001382	Joint hypermobility	246329	STAC3	ORPHA:168572
HP:0001382	Joint hypermobility	2317	FLNB	ORPHA:503
HP:0001382	Joint hypermobility	2317	FLNB	OMIM:150250
HP:0001382	Joint hypermobility	2131	EXT1	ORPHA:502
HP:0001382	Joint hypermobility	5885	RAD21	ORPHA:502
HP:0001382	Joint hypermobility	7227	TRPS1	ORPHA:502
HP:0001382	Joint hypermobility	113189	CHST14	OMIM:601776
HP:0001382	Joint hypermobility	1457	CSNK2A1	OMIM:617062
HP:0001382	Joint hypermobility	5290	PIK3CA	OMIM:602501
HP:0001382	Joint hypermobility	5290	PIK3CA	ORPHA:60040
HP:0001382	Joint hypermobility	9325	TRIP4	OMIM:617066
HP:0001382	Joint hypermobility	9325	TRIP4	ORPHA:486815
HP:0001382	Joint hypermobility	4841	NONO	OMIM:300967
HP:0001382	Joint hypermobility	4841	NONO	ORPHA:466791
HP:0001382	Joint hypermobility	8318	CDC45	OMIM:617063
HP:0001382	Joint hypermobility	8318	CDC45	ORPHA:2554
HP:0001382	Joint hypermobility	23233	EXOC6B	OMIM:618395
HP:0001382	Joint hypermobility	23112	TNRC6B	OMIM:619243
HP:0001382	Joint hypermobility	10220	GDF11	OMIM:619122
HP:0001382	Joint hypermobility	8450	CUL4B	ORPHA:85293
HP:0001382	Joint hypermobility	8450	CUL4B	OMIM:300354
HP:0001382	Joint hypermobility	84919	PPP1R15B	ORPHA:391408
HP:0001382	Joint hypermobility	1292	COL6A2	ORPHA:610
HP:0001382	Joint hypermobility	1293	COL6A3	ORPHA:610
HP:0001382	Joint hypermobility	673	BRAF	OMIM:613706
HP:0001382	Joint hypermobility	126792	B3GALT6	OMIM:271640
HP:0001382	Joint hypermobility	126792	B3GALT6	ORPHA:536467
HP:0001382	Joint hypermobility	126792	B3GALT6	OMIM:615349
HP:0001382	Joint hypermobility	84905	ZNF341	OMIM:618282
HP:0001382	Joint hypermobility	5295	PIK3R1	ORPHA:3163
HP:0001382	Joint hypermobility	5295	PIK3R1	OMIM:269880
HP:0001382	Joint hypermobility	1290	COL5A2	OMIM:130010
HP:0001382	Joint hypermobility	11014	KDELR2	OMIM:619131
HP:0001382	Joint hypermobility	10479	SLC9A6	ORPHA:85278
HP:0001382	Joint hypermobility	84231	TRAF7	OMIM:618164
HP:0001382	Joint hypermobility	2193	FARSA	OMIM:619013
HP:0001382	Joint hypermobility	1984	EIF5A	OMIM:619376
HP:0001382	Joint hypermobility	54187	NANS	OMIM:610442
HP:0001382	Joint hypermobility	92344	GORAB	ORPHA:2078
HP:0001382	Joint hypermobility	22800	RRAS2	ORPHA:648
HP:0001382	Joint hypermobility	867	CBL	ORPHA:648
HP:0001382	Joint hypermobility	867	CBL	OMIM:613563
HP:0001382	Joint hypermobility	8216	LZTR1	ORPHA:648
HP:0001382	Joint hypermobility	6016	RIT1	ORPHA:648
HP:0001382	Joint hypermobility	6237	RRAS	ORPHA:648
HP:0001382	Joint hypermobility	5894	RAF1	ORPHA:648
HP:0001382	Joint hypermobility	22808	MRAS	ORPHA:648
HP:0001382	Joint hypermobility	3845	KRAS	ORPHA:648
HP:0001382	Joint hypermobility	200734	SPRED2	ORPHA:648
HP:0001382	Joint hypermobility	4893	NRAS	ORPHA:648
HP:0001382	Joint hypermobility	6654	SOS1	ORPHA:648
HP:0001382	Joint hypermobility	6655	SOS2	ORPHA:648
HP:0001382	Joint hypermobility	5781	PTPN11	ORPHA:648
HP:0001382	Joint hypermobility	5922	RASA2	ORPHA:648
HP:0001382	Joint hypermobility	10020	GNE	ORPHA:3166
HP:0001382	Joint hypermobility	23522	KAT6B	ORPHA:3047
HP:0001382	Joint hypermobility	8139	GAN	ORPHA:643
HP:0001382	Joint hypermobility	64131	XYLT1	ORPHA:370930
HP:0001382	Joint hypermobility	64131	XYLT1	OMIM:615777
HP:0001382	Joint hypermobility	64131	XYLT1	ORPHA:1425
HP:0001382	Joint hypermobility	5076	PAX2	OMIM:120330
HP:0001382	Joint hypermobility	5076	PAX2	ORPHA:1475
HP:0001382	Joint hypermobility	5727	PTCH1	ORPHA:77301
HP:0001382	Joint hypermobility	11011	TLK2	OMIM:618050
HP:0001382	Joint hypermobility	5965	RECQL	OMIM:620370
HP:0001382	Joint hypermobility	1513	CTSK	ORPHA:763
HP:0001382	Joint hypermobility	341208	HEPHL1	OMIM:261990
HP:0001382	Joint hypermobility	11342	RNF13	ORPHA:544503
HP:0001382	Joint hypermobility	26123	TCTN3	OMIM:614815
HP:0001382	Joint hypermobility	5167	ENPP1	ORPHA:758
HP:0001382	Joint hypermobility	368	ABCC6	ORPHA:758
HP:0001382	Joint hypermobility	7042	TGFB2	OMIM:614816
HP:0001382	Joint hypermobility	7042	TGFB2	ORPHA:60030
HP:0001382	Joint hypermobility	871	SERPINH1	OMIM:613848
HP:0001382	Joint hypermobility	8085	KMT2D	OMIM:147920
HP:0001382	Joint hypermobility	8085	KMT2D	ORPHA:2322
HP:0001382	Joint hypermobility	7337	UBE3A	ORPHA:238446
HP:0001382	Joint hypermobility	6535	SLC6A8	OMIM:300352
HP:0001382	Joint hypermobility	6535	SLC6A8	ORPHA:52503
HP:0001382	Joint hypermobility	10491	CRTAP	ORPHA:2050
HP:0001382	Joint hypermobility	9871	SEC24D	ORPHA:2050
HP:0001382	Joint hypermobility	5034	P4HB	ORPHA:2050
HP:0001382	Joint hypermobility	10046	MAMLD1	ORPHA:456328
HP:0001382	Joint hypermobility	4534	MTM1	ORPHA:456328
HP:0001382	Joint hypermobility	6775	STAT4	ORPHA:85410
HP:0001382	Joint hypermobility	3560	IL2RB	ORPHA:85410
HP:0001382	Joint hypermobility	79722	ANKRD55	ORPHA:85410
HP:0001382	Joint hypermobility	26191	PTPN22	ORPHA:85410
HP:0001382	Joint hypermobility	919	CD247	ORPHA:85410
HP:0001382	Joint hypermobility	3559	IL2RA	ORPHA:85410
HP:0001382	Joint hypermobility	5771	PTPN2	ORPHA:85410
HP:0001382	Joint hypermobility	7148	TNXB	ORPHA:230839
HP:0001382	Joint hypermobility	7148	TNXB	OMIM:615963
HP:0001382	Joint hypermobility	7148	TNXB	OMIM:606408
HP:0001382	Joint hypermobility	652	BMP4	ORPHA:828
HP:0001382	Joint hypermobility	7355	SLC35A2	ORPHA:356961
HP:0001382	Joint hypermobility	347734	SLC35B2	OMIM:620269
HP:0001382	Joint hypermobility	10274	STAG1	ORPHA:502434
HP:0001382	Joint hypermobility	10274	STAG1	OMIM:617635
HP:0001382	Joint hypermobility	64324	NSD1	ORPHA:821
HP:0001382	Joint hypermobility	64324	NSD1	OMIM:117550
HP:0001382	Joint hypermobility	64324	NSD1	ORPHA:3447
HP:0001382	Joint hypermobility	10297	APC2	ORPHA:821
HP:0001382	Joint hypermobility	613	BCR	ORPHA:261330
HP:0001382	Joint hypermobility	1399	CRKL	ORPHA:261330
HP:0001382	Joint hypermobility	5594	MAPK1	ORPHA:261330
HP:0001382	Joint hypermobility	5594	MAPK1	OMIM:619087
HP:0001382	Joint hypermobility	5176	SERPINF1	OMIM:613982
HP:0001382	Joint hypermobility	6662	SOX9	OMIM:114290
HP:0001382	Joint hypermobility	25782	RAB3GAP2	OMIM:212720
HP:0001382	Joint hypermobility	5744	PTHLH	ORPHA:93387
HP:0001382	Joint hypermobility	3239	HOXD13	ORPHA:93387
HP:0001382	Joint hypermobility	55780	ERMARD	ORPHA:75857
HP:0001382	Joint hypermobility	55780	ERMARD	ORPHA:98892
HP:0001382	Joint hypermobility	29925	GMPPB	ORPHA:353327
HP:0001382	Joint hypermobility	2673	GFPT1	ORPHA:353327
HP:0001382	Joint hypermobility	1798	DPAGT1	ORPHA:353327
HP:0001382	Joint hypermobility	199857	ALG14	ORPHA:353327
HP:0001382	Joint hypermobility	7125	TNNC2	OMIM:620161
HP:0001382	Joint hypermobility	6595	SMARCA2	OMIM:619293
HP:0001382	Joint hypermobility	57492	ARID1B	OMIM:135900
HP:0001382	Joint hypermobility	57492	ARID1B	ORPHA:1465
HP:0001382	Joint hypermobility	9739	SETD1A	OMIM:619056
HP:0001382	Joint hypermobility	80204	FBXO11	OMIM:618089
HP:0001382	Joint hypermobility	5015	OTX2	OMIM:610125
HP:0001382	Joint hypermobility	55858	TMEM165	OMIM:614727
HP:0001382	Joint hypermobility	5238	PGM3	OMIM:615816
HP:0001382	Joint hypermobility	10716	TBR1	OMIM:606053
HP:0001382	Joint hypermobility	6598	SMARCB1	OMIM:614608
HP:0001382	Joint hypermobility	6598	SMARCB1	ORPHA:1465
HP:0001382	Joint hypermobility	222663	SCUBE3	OMIM:619184
HP:0001382	Joint hypermobility	23116	TOGARAM1	OMIM:619185
HP:0001382	Joint hypermobility	84823	LMNB2	OMIM:619180
HP:0001382	Joint hypermobility	6885	MAP3K7	OMIM:157800
HP:0001382	Joint hypermobility	2720	GLB1	OMIM:253010
HP:0001382	Joint hypermobility	79813	EHMT1	OMIM:610253
HP:0001382	Joint hypermobility	23545	ATP6V0A2	OMIM:278250
HP:0001382	Joint hypermobility	23545	ATP6V0A2	OMIM:219200
HP:0001382	Joint hypermobility	649	BMP1	OMIM:614856
HP:0001382	Joint hypermobility	526	ATP6V1B2	ORPHA:3473
HP:0001382	Joint hypermobility	3756	KCNH1	ORPHA:3473
HP:0001382	Joint hypermobility	3782	KCNN3	ORPHA:3473
HP:0001382	Joint hypermobility	10522	DEAF1	OMIM:615828
HP:0001382	Joint hypermobility	375	ARF1	ORPHA:98892
HP:0001382	Joint hypermobility	4131	MAP1B	ORPHA:98892
HP:0001382	Joint hypermobility	23327	NEDD4L	ORPHA:98892
HP:0001382	Joint hypermobility	160418	TMTC3	ORPHA:98892
HP:0001382	Joint hypermobility	10564	ARFGEF2	ORPHA:98892
HP:0001382	Joint hypermobility	5828	PEX2	OMIM:614867
HP:0001382	Joint hypermobility	6804	STX1A	ORPHA:904
HP:0001382	Joint hypermobility	7461	CLIP2	ORPHA:904
HP:0001382	Joint hypermobility	84277	DNAJC30	ORPHA:904
HP:0001382	Joint hypermobility	8468	FKBP6	ORPHA:904
HP:0001382	Joint hypermobility	5982	RFC2	ORPHA:904
HP:0001382	Joint hypermobility	2969	GTF2I	ORPHA:904
HP:0001382	Joint hypermobility	3984	LIMK1	ORPHA:904
HP:0001382	Joint hypermobility	9569	GTF2IRD1	ORPHA:904
HP:0001382	Joint hypermobility	155382	VPS37D	ORPHA:904
HP:0001382	Joint hypermobility	155368	METTL27	ORPHA:904
HP:0001382	Joint hypermobility	114049	BUD23	ORPHA:904
HP:0001382	Joint hypermobility	7458	EIF4H	ORPHA:904
HP:0001382	Joint hypermobility	84163	GTF2IRD2	ORPHA:904
HP:0001382	Joint hypermobility	26608	TBL2	ORPHA:904
HP:0001382	Joint hypermobility	653361	NCF1	ORPHA:904
HP:0001382	Joint hypermobility	135886	TMEM270	ORPHA:904
HP:0001382	Joint hypermobility	9031	BAZ1B	ORPHA:904
HP:0001382	Joint hypermobility	10056	FARSB	OMIM:613658
HP:0001382	Joint hypermobility	81031	SLC2A10	ORPHA:3342
HP:0001382	Joint hypermobility	81031	SLC2A10	OMIM:208050
HP:0001382	Joint hypermobility	54499	TMCO1	OMIM:213980
HP:0001382	Joint hypermobility	22859	ADGRL1	OMIM:620065
HP:0001382	Joint hypermobility	283209	PGM2L1	OMIM:620191
HP:0001382	Joint hypermobility	57459	GATAD2B	ORPHA:363686
HP:0001382	Joint hypermobility	78989	COLEC11	OMIM:265050
HP:0001382	Joint hypermobility	6774	STAT3	OMIM:147060
HP:0001382	Joint hypermobility	6774	STAT3	ORPHA:2314
HP:0001382	Joint hypermobility	51085	MLXIPL	OMIM:194050
HP:0001382	Joint hypermobility	11128	POLR3A	ORPHA:3455
HP:0001382	Joint hypermobility	3187	HNRNPH1	OMIM:620083
HP:0001382	Joint hypermobility	4920	ROR2	OMIM:268310
HP:0001382	Joint hypermobility	11117	EMILIN1	OMIM:620080
HP:0001382	Joint hypermobility	55084	SOBP	OMIM:613671
HP:0001382	Joint hypermobility	7048	TGFBR2	OMIM:610168
HP:0001382	Joint hypermobility	7048	TGFBR2	ORPHA:60030
HP:0001382	Joint hypermobility	545	ATR	ORPHA:808
HP:0001382	Joint hypermobility	1062	CENPE	ORPHA:808
HP:0001382	Joint hypermobility	5116	PCNT	ORPHA:808
HP:0001382	Joint hypermobility	5116	PCNT	ORPHA:2637
HP:0001382	Joint hypermobility	5932	RBBP8	ORPHA:808
HP:0001382	Joint hypermobility	79902	NUP85	ORPHA:808
HP:0001382	Joint hypermobility	84126	ATRIP	ORPHA:808
HP:0001382	Joint hypermobility	10293	TRAIP	ORPHA:808
HP:0001382	Joint hypermobility	1763	DNA2	ORPHA:808
HP:0001382	Joint hypermobility	22995	CEP152	ORPHA:808
HP:0001382	Joint hypermobility	10733	PLK4	ORPHA:808
HP:0001382	Joint hypermobility	23512	SUZ12	ORPHA:3447
HP:0001382	Joint hypermobility	2146	EZH2	ORPHA:3447
HP:0001382	Joint hypermobility	91252	SLC39A13	OMIM:612350
HP:0001382	Joint hypermobility	2703	GJA8	OMIM:612474
HP:0001382	Joint hypermobility	2702	GJA5	OMIM:612474
HP:0001382	Joint hypermobility	7043	TGFB3	ORPHA:60030
HP:0001382	Joint hypermobility	7043	TGFB3	OMIM:615582
HP:0001382	Joint hypermobility	22907	DHX30	OMIM:617804
HP:0001382	Joint hypermobility	1297	COL9A1	ORPHA:250984
HP:0001382	Joint hypermobility	1297	COL9A1	OMIM:614134
HP:0001382	Joint hypermobility	1298	COL9A2	ORPHA:250984
HP:0001382	Joint hypermobility	1299	COL9A3	ORPHA:250984
HP:0001382	Joint hypermobility	2245	FGD1	ORPHA:915
HP:0001382	Joint hypermobility	2245	FGD1	OMIM:305400
HP:0001382	Joint hypermobility	10664	CTCF	OMIM:615502
HP:0001382	Joint hypermobility	6497	SKI	ORPHA:2462
HP:0001382	Joint hypermobility	6497	SKI	OMIM:182212
HP:0001382	Joint hypermobility	3720	JARID2	OMIM:620098
HP:0001382	Joint hypermobility	5979	RET	OMIM:162300
HP:0001382	Joint hypermobility	64116	SLC39A8	OMIM:616721
HP:0001382	Joint hypermobility	9759	HDAC4	ORPHA:1001
HP:0001382	Joint hypermobility	85358	SHANK3	OMIM:606232
HP:0001382	Joint hypermobility	23028	KDM1A	OMIM:616728
HP:0001382	Joint hypermobility	26115	TANC2	OMIM:618906
HP:0001382	Joint hypermobility	79650	USB1	OMIM:604173
HP:0001382	Joint hypermobility	91179	SCARF2	OMIM:600920
HP:0001382	Joint hypermobility	4854	NOTCH3	OMIM:130720
HP:0001382	Joint hypermobility	4854	NOTCH3	ORPHA:2789
HP:0001382	Joint hypermobility	2782	GNB1	OMIM:616973
HP:0001382	Joint hypermobility	26224	FBXL3	OMIM:606220
HP:0001382	Joint hypermobility	4297	KMT2A	OMIM:605130
HP:0001382	Joint hypermobility	2239	GPC4	OMIM:301026
HP:0001382	Joint hypermobility	55033	FKBP14	ORPHA:300179
HP:0001382	Joint hypermobility	55603	TENT5A	OMIM:617952
HP:0001382	Joint hypermobility	6597	SMARCA4	ORPHA:1465
HP:0001382	Joint hypermobility	6659	SOX4	ORPHA:1465
HP:0001382	Joint hypermobility	8289	ARID1A	ORPHA:1465
HP:0001382	Joint hypermobility	5977	DPF2	ORPHA:1465
HP:0001382	Joint hypermobility	6601	SMARCC2	ORPHA:1465
HP:0001382	Joint hypermobility	6602	SMARCD1	ORPHA:1465
HP:0001382	Joint hypermobility	196528	ARID2	ORPHA:1465
HP:0001382	Joint hypermobility	6605	SMARCE1	ORPHA:1465
HP:0001382	Joint hypermobility	6664	SOX11	ORPHA:1465
HP:0001382	Joint hypermobility	29940	DSE	OMIM:615539
HP:0001382	Joint hypermobility	6678	SPARC	OMIM:616507
HP:0001382	Joint hypermobility	3759	KCNJ2	OMIM:170390
HP:0001382	Joint hypermobility	3759	KCNJ2	ORPHA:37553
HP:0001382	Joint hypermobility	81620	CDT1	ORPHA:2554
HP:0001382	Joint hypermobility	23594	ORC6	ORPHA:2554
HP:0001382	Joint hypermobility	990	CDC6	ORPHA:2554
HP:0001382	Joint hypermobility	51053	GMNN	ORPHA:2554
HP:0001382	Joint hypermobility	64093	SMOC1	ORPHA:1106
HP:0001382	Joint hypermobility	79576	NKAP	OMIM:301039
HP:0001382	Joint hypermobility	25	ABL1	OMIM:617602
HP:0001382	Joint hypermobility	175	AGA	OMIM:208400
HP:0001382	Joint hypermobility	79633	FAT4	OMIM:615546
HP:0001382	Joint hypermobility	80781	COL18A1	ORPHA:1571
HP:0001382	Joint hypermobility	80781	COL18A1	OMIM:267750
HP:0001382	Joint hypermobility	5062	PAK2	ORPHA:1571
HP:0001382	Joint hypermobility	9361	LONP1	ORPHA:1458
HP:0001382	Joint hypermobility	64840	PORCN	OMIM:305600
HP:0001382	Joint hypermobility	6197	RPS6KA3	ORPHA:192
HP:0001382	Joint hypermobility	10367	MICU1	OMIM:615673
HP:0001382	Joint hypermobility	2588	GALNS	OMIM:253000
HP:0001382	Joint hypermobility	9894	TELO2	ORPHA:488642
HP:0001382	Joint hypermobility	6928	HNF1B	ORPHA:93111
HP:0001382	Joint hypermobility	4796	TONSL	ORPHA:93357
HP:0001382	Joint hypermobility	8936	WASF1	OMIM:618707
HP:0001382	Joint hypermobility	51360	MBTPS2	OMIM:301014
HP:0001382	Joint hypermobility	60482	SLC5A7	ORPHA:98914
HP:0001382	Joint hypermobility	4649	MYO9A	ORPHA:98914
HP:0001382	Joint hypermobility	1305	COL13A1	ORPHA:98914
HP:0001382	Joint hypermobility	1103	CHAT	ORPHA:98914
HP:0001382	Joint hypermobility	6576	SLC25A1	ORPHA:98914
HP:0001382	Joint hypermobility	375790	AGRN	ORPHA:98914
HP:0001382	Joint hypermobility	127833	SYT2	ORPHA:98914
HP:0001382	Joint hypermobility	6572	SLC18A3	ORPHA:98914
HP:0001382	Joint hypermobility	6616	SNAP25	ORPHA:98914
HP:0001382	Joint hypermobility	5500	PPP1CB	OMIM:617506
HP:0001382	Joint hypermobility	54676	GTPBP2	OMIM:617988
HP:0001382	Joint hypermobility	5879	RAC1	OMIM:617751
HP:0001382	Joint hypermobility	5879	RAC1	ORPHA:500159
HP:0001382	Joint hypermobility	55023	PHIP	OMIM:617991
HP:0001382	Joint hypermobility	51780	KDM3B	OMIM:618846
HP:0001382	Joint hypermobility	9203	ZMYM3	OMIM:301111
HP:0001382	Joint hypermobility	9469	CHST3	OMIM:245600
HP:0001382	Joint hypermobility	26229	B3GAT3	OMIM:245600
HP:0001382	Joint hypermobility	11141	IL1RAPL1	OMIM:300143
HP:0001382	Joint hypermobility	23309	SIN3B	ORPHA:500166
HP:0001382	Joint hypermobility	1806	DPYD	ORPHA:293948
HP:0001382	Joint hypermobility	7471	WNT1	OMIM:615220
HP:0001382	Joint hypermobility	51776	MAP3K20	OMIM:617760
HP:0001382	Joint hypermobility	7543	ZFX	OMIM:301118
HP:0001382	Joint hypermobility	529	ATP6V1E1	OMIM:617402
HP:0001382	Joint hypermobility	25871	NEPRO	OMIM:618853
HP:0001382	Joint hypermobility	3762	KCNJ5	ORPHA:37553
HP:0001382	Joint hypermobility	2260	FGFR1	ORPHA:432
HP:0001382	Joint hypermobility	81848	SPRY4	ORPHA:432
HP:0001382	Joint hypermobility	128674	PROKR2	ORPHA:432
HP:0001382	Joint hypermobility	2253	FGF8	ORPHA:432
HP:0001382	Joint hypermobility	60675	PROK2	ORPHA:432
HP:0001382	Joint hypermobility	55636	CHD7	ORPHA:432
HP:0001382	Joint hypermobility	6870	TACR3	ORPHA:432
HP:0001382	Joint hypermobility	1848	DUSP6	ORPHA:432
HP:0001382	Joint hypermobility	26012	NSMF	ORPHA:432
HP:0001382	Joint hypermobility	55717	WDR11	ORPHA:432
HP:0001382	Joint hypermobility	4808	NHLH2	ORPHA:432
HP:0001382	Joint hypermobility	9394	HS6ST1	ORPHA:432
HP:0001382	Joint hypermobility	2796	GNRH1	ORPHA:432
HP:0001382	Joint hypermobility	2798	GNRHR	ORPHA:432
HP:0001382	Joint hypermobility	84634	KISS1R	ORPHA:432
HP:0001382	Joint hypermobility	6866	TAC3	ORPHA:432
HP:0001382	Joint hypermobility	8822	FGF17	ORPHA:432
HP:0001382	Joint hypermobility	3814	KISS1	ORPHA:432
HP:0001382	Joint hypermobility	10717	AP4B1	ORPHA:280763
HP:0001382	Joint hypermobility	9179	AP4M1	ORPHA:280763
HP:0001382	Joint hypermobility	11154	AP4S1	ORPHA:280763
HP:0001382	Joint hypermobility	23431	AP4E1	ORPHA:280763
HP:0001382	Joint hypermobility	523	ATP6V1A	ORPHA:357074
HP:0001382	Joint hypermobility	6999	TDO2	OMIM:600627
HP:0001382	Joint hypermobility	55784	MCTP2	ORPHA:1596
HP:0001382	Joint hypermobility	55154	MSTO1	ORPHA:502423
HP:0001382	Joint hypermobility	3373	HYAL1	OMIM:601492
HP:0001382	Joint hypermobility	121340	SP7	OMIM:613849
HP:0001382	Joint hypermobility	89970	RSPRY1	ORPHA:457395
HP:0001382	Joint hypermobility	7528	YY1	ORPHA:506358
HP:0001382	Joint hypermobility	7528	YY1	OMIM:617557
HP:0001382	Joint hypermobility	54681	P4HTM	OMIM:618493
HP:0001382	Joint hypermobility	54681	P4HTM	ORPHA:436141
HP:0001382	Joint hypermobility	22861	NLRP1	OMIM:615225
HP:0001382	Joint hypermobility	90459	ERI1	OMIM:620663
HP:0001382	Joint hypermobility	5479	PPIB	OMIM:259440
HP:0001382	Joint hypermobility	90952	ESAM	OMIM:620371
HP:0001382	Joint hypermobility	9427	ECEL1	OMIM:615065
HP:0001382	Joint hypermobility	23261	CAMTA1	OMIM:614756
HP:0001382	Joint hypermobility	78987	CRELD1	OMIM:620771
HP:0001382	Joint hypermobility	4010	LMX1B	ORPHA:2614
HP:0001382	Joint hypermobility	4210	MEFV	ORPHA:329967
HP:0001382	Joint hypermobility	7132	TNFRSF1A	ORPHA:329967
HP:0001382	Joint hypermobility	9373	PLAA	OMIM:617527
HP:0001382	Joint hypermobility	59341	TRPV4	OMIM:184095
HP:0004570	Increased vertebral height	59341	TRPV4	ORPHA:93304
HP:0004570	Increased vertebral height	2261	FGFR3	OMIM:610474
HP:0004570	Increased vertebral height	9820	CUL7	ORPHA:2616
HP:0004570	Increased vertebral height	9820	CUL7	OMIM:273750
HP:0004570	Increased vertebral height	23363	OBSL1	ORPHA:2616
HP:0004570	Increased vertebral height	83987	CCDC8	ORPHA:2616
HP:0004570	Increased vertebral height	83987	CCDC8	OMIM:614205
HP:0004570	Increased vertebral height	90459	ERI1	OMIM:620663
HP:0004570	Increased vertebral height	90459	ERI1	OMIM:620662
HP:0004570	Increased vertebral height	84919	PPP1R15B	OMIM:616817
HP:0004570	Increased vertebral height	4125	MAN2B1	OMIM:248500
HP:0004570	Increased vertebral height	83737	ITCH	OMIM:613385
HP:0004570	Increased vertebral height	4853	NOTCH2	OMIM:102500
HP:0010990	Abnormality of the common coagulation pathway	90411	MCFD2	OMIM:613625
HP:0010990	Abnormality of the common coagulation pathway	90411	MCFD2	ORPHA:35909
HP:0010990	Abnormality of the common coagulation pathway	2153	F5	OMIM:227400
HP:0010990	Abnormality of the common coagulation pathway	3998	LMAN1	OMIM:227300
HP:0010990	Abnormality of the common coagulation pathway	3998	LMAN1	ORPHA:35909
HP:0010990	Abnormality of the common coagulation pathway	2677	GGCX	OMIM:277450
HP:0010990	Abnormality of the common coagulation pathway	2677	GGCX	OMIM:610842
HP:0010990	Abnormality of the common coagulation pathway	2159	F10	OMIM:227600
HP:0010990	Abnormality of the common coagulation pathway	2159	F10	ORPHA:328
HP:0010990	Abnormality of the common coagulation pathway	79001	VKORC1	OMIM:607473
HP:0010990	Abnormality of the common coagulation pathway	196527	ANO6	OMIM:262890
HP:0010990	Abnormality of the common coagulation pathway	2165	F13B	ORPHA:331
HP:0010990	Abnormality of the common coagulation pathway	2165	F13B	OMIM:613235
HP:0010990	Abnormality of the common coagulation pathway	2162	F13A1	ORPHA:331
HP:0010990	Abnormality of the common coagulation pathway	2162	F13A1	OMIM:613225
HP:0010990	Abnormality of the common coagulation pathway	2542	SLC37A4	OMIM:619525
HP:0010990	Abnormality of the common coagulation pathway	673	BRAF	OMIM:163950
HP:0010990	Abnormality of the common coagulation pathway	5604	MAP2K1	OMIM:163950
HP:0010990	Abnormality of the common coagulation pathway	5781	PTPN11	OMIM:163950
HP:0010990	Abnormality of the common coagulation pathway	4247	MGAT2	ORPHA:79329
HP:0010990	Abnormality of the common coagulation pathway	9630	GNA14	ORPHA:1063
HP:0010990	Abnormality of the common coagulation pathway	7058	THBS2	OMIM:620865
HP:0010990	Abnormality of the common coagulation pathway	26191	PTPN22	ORPHA:397
HP:0010990	Abnormality of the common coagulation pathway	3106	HLA-B	ORPHA:397
HP:0010990	Abnormality of the common coagulation pathway	3123	HLA-DRB1	ORPHA:397
HP:0010990	Abnormality of the common coagulation pathway	8974	P4HA2	ORPHA:397
HP:0010990	Abnormality of the common coagulation pathway	4210	MEFV	ORPHA:342
HP:0010990	Abnormality of the common coagulation pathway	3689	ITGB2	OMIM:116920
HP:0010990	Abnormality of the common coagulation pathway	3604	TNFRSF9	OMIM:620282
HP:0010990	Abnormality of the common coagulation pathway	9056	SLC7A7	ORPHA:470
HP:0010990	Abnormality of the common coagulation pathway	201294	UNC13D	OMIM:608898
HP:0010990	Abnormality of the common coagulation pathway	201294	UNC13D	ORPHA:540
HP:0010990	Abnormality of the common coagulation pathway	2266	FGG	OMIM:202400
HP:0010990	Abnormality of the common coagulation pathway	2243	FGA	OMIM:202400
HP:0010990	Abnormality of the common coagulation pathway	2244	FGB	OMIM:202400
HP:0010990	Abnormality of the common coagulation pathway	55388	MCM10	OMIM:619313
HP:0010990	Abnormality of the common coagulation pathway	331	XIAP	OMIM:300635
HP:0010990	Abnormality of the common coagulation pathway	6573	SLC19A1	OMIM:620603
HP:0010990	Abnormality of the common coagulation pathway	4358	MPV17	OMIM:256810
HP:0010990	Abnormality of the common coagulation pathway	2683	B4GALT1	OMIM:620364
HP:0010990	Abnormality of the common coagulation pathway	2038	EPB42	ORPHA:822
HP:0010990	Abnormality of the common coagulation pathway	6521	SLC4A1	ORPHA:822
HP:0010990	Abnormality of the common coagulation pathway	6710	SPTB	ORPHA:822
HP:0010990	Abnormality of the common coagulation pathway	6708	SPTA1	ORPHA:822
HP:0010990	Abnormality of the common coagulation pathway	286	ANK1	ORPHA:822
HP:0010990	Abnormality of the common coagulation pathway	1130	LYST	ORPHA:167
HP:0010990	Abnormality of the common coagulation pathway	5551	PRF1	ORPHA:540
HP:0010990	Abnormality of the common coagulation pathway	5551	PRF1	OMIM:603553
HP:0010990	Abnormality of the common coagulation pathway	8676	STX11	ORPHA:540
HP:0010990	Abnormality of the common coagulation pathway	8676	STX11	OMIM:603552
HP:0010990	Abnormality of the common coagulation pathway	6813	STXBP2	ORPHA:540
HP:0010990	Abnormality of the common coagulation pathway	6774	STAT3	ORPHA:520
HP:0010990	Abnormality of the common coagulation pathway	5371	PML	ORPHA:520
HP:0010990	Abnormality of the common coagulation pathway	5914	RARA	ORPHA:520
HP:0010990	Abnormality of the common coagulation pathway	359948	IRF2BP2	ORPHA:520
HP:0010990	Abnormality of the common coagulation pathway	81608	FIP1L1	ORPHA:520
HP:0010990	Abnormality of the common coagulation pathway	4869	NPM1	ORPHA:520
HP:0010990	Abnormality of the common coagulation pathway	5573	PRKAR1A	ORPHA:520
HP:0010990	Abnormality of the common coagulation pathway	54880	BCOR	ORPHA:520
HP:0010990	Abnormality of the common coagulation pathway	64859	NABP1	ORPHA:520
HP:0010990	Abnormality of the common coagulation pathway	6777	STAT5B	ORPHA:520
HP:0010990	Abnormality of the common coagulation pathway	4926	NUMA1	ORPHA:520
HP:0010990	Abnormality of the common coagulation pathway	7704	ZBTB16	ORPHA:520
HP:0010990	Abnormality of the common coagulation pathway	79718	TBL1XR1	ORPHA:520
HP:0010990	Abnormality of the common coagulation pathway	58484	NLRC4	OMIM:616050
HP:0010990	Abnormality of the common coagulation pathway	191	AHCY	ORPHA:88618
HP:0010990	Abnormality of the common coagulation pathway	84868	HAVCR2	OMIM:618398
HP:0010990	Abnormality of the common coagulation pathway	3075	CFH	ORPHA:244242
HP:0010990	Abnormality of the common coagulation pathway	3426	CFI	ORPHA:244242
HP:0010990	Abnormality of the common coagulation pathway	4179	CD46	ORPHA:244242
HP:0010990	Abnormality of the common coagulation pathway	101101692	HELLPAR	ORPHA:244242
HP:0010990	Abnormality of the common coagulation pathway	55768	NGLY1	ORPHA:404454
HP:0010990	Abnormality of the common coagulation pathway	462	SERPINC1	OMIM:613118
HP:0010990	Abnormality of the common coagulation pathway	3273	HRG	OMIM:613116
HP:0010990	Abnormality of the common coagulation pathway	5054	SERPINE1	ORPHA:465
HP:0010990	Abnormality of the common coagulation pathway	5340	PLG	OMIM:217090
HP:0010990	Abnormality of the common coagulation pathway	5340	PLG	ORPHA:722
HP:0010990	Abnormality of the common coagulation pathway	4351	MPI	ORPHA:79319
HP:0010990	Abnormality of the common coagulation pathway	29929	ALG6	ORPHA:79320
HP:0010990	Abnormality of the common coagulation pathway	79087	ALG12	ORPHA:79324
HP:0010991	Abnormal morphology of the abdominal musculature	79158	GNPTAB	ORPHA:576
HP:0010991	Abnormal morphology of the abdominal musculature	79158	GNPTAB	ORPHA:423461
HP:0010991	Abnormal morphology of the abdominal musculature	79158	GNPTAB	OMIM:252500
HP:0010991	Abnormal morphology of the abdominal musculature	64840	PORCN	OMIM:305600
HP:0010991	Abnormal morphology of the abdominal musculature	64840	PORCN	ORPHA:2092
HP:0010991	Abnormal morphology of the abdominal musculature	2294	FOXF1	OMIM:265380
HP:0010991	Abnormal morphology of the abdominal musculature	388015	RTL1	ORPHA:254534
HP:0010991	Abnormal morphology of the abdominal musculature	388015	RTL1	ORPHA:254528
HP:0010991	Abnormal morphology of the abdominal musculature	388015	RTL1	ORPHA:96334
HP:0010991	Abnormal morphology of the abdominal musculature	8788	DLK1	ORPHA:254534
HP:0010991	Abnormal morphology of the abdominal musculature	8788	DLK1	ORPHA:254528
HP:0010991	Abnormal morphology of the abdominal musculature	8788	DLK1	ORPHA:96334
HP:0010991	Abnormal morphology of the abdominal musculature	55384	MEG3	ORPHA:254534
HP:0010991	Abnormal morphology of the abdominal musculature	55384	MEG3	ORPHA:254528
HP:0010991	Abnormal morphology of the abdominal musculature	55384	MEG3	ORPHA:96334
HP:0010991	Abnormal morphology of the abdominal musculature	10584	COLEC10	OMIM:248340
HP:0010991	Abnormal morphology of the abdominal musculature	10584	COLEC10	ORPHA:293843
HP:0010991	Abnormal morphology of the abdominal musculature	1028	CDKN1C	OMIM:130650
HP:0010991	Abnormal morphology of the abdominal musculature	3481	IGF2	OMIM:130650
HP:0010991	Abnormal morphology of the abdominal musculature	3481	IGF2	ORPHA:231140
HP:0010991	Abnormal morphology of the abdominal musculature	3784	KCNQ1	OMIM:130650
HP:0010991	Abnormal morphology of the abdominal musculature	10984	KCNQ1OT1	OMIM:130650
HP:0010991	Abnormal morphology of the abdominal musculature	145173	B3GLCT	OMIM:261540
HP:0010991	Abnormal morphology of the abdominal musculature	2990	GUSB	OMIM:253220
HP:0010991	Abnormal morphology of the abdominal musculature	5648	MASP1	OMIM:257920
HP:0010991	Abnormal morphology of the abdominal musculature	5648	MASP1	ORPHA:293843
HP:0010991	Abnormal morphology of the abdominal musculature	2146	EZH2	OMIM:277590
HP:0010991	Abnormal morphology of the abdominal musculature	78989	COLEC11	ORPHA:293843
HP:0010991	Abnormal morphology of the abdominal musculature	78989	COLEC11	OMIM:265050
HP:0010991	Abnormal morphology of the abdominal musculature	9091	PIGQ	OMIM:618548
HP:0010991	Abnormal morphology of the abdominal musculature	63916	ELMO2	OMIM:606893
HP:0010991	Abnormal morphology of the abdominal musculature	283120	H19	ORPHA:231140
HP:0010991	Abnormal morphology of the abdominal musculature	113189	CHST14	OMIM:601776
HP:0010991	Abnormal morphology of the abdominal musculature	55553	SOX6	OMIM:618971
HP:0010991	Abnormal morphology of the abdominal musculature	283489	CHAMP1	OMIM:616579
HP:0010991	Abnormal morphology of the abdominal musculature	2475	MTOR	ORPHA:457485
HP:0010991	Abnormal morphology of the abdominal musculature	2475	MTOR	OMIM:616638
HP:0010991	Abnormal morphology of the abdominal musculature	55012	PPP2R3C	OMIM:618419
HP:0010991	Abnormal morphology of the abdominal musculature	93627	TBCK	ORPHA:488632
HP:0010991	Abnormal morphology of the abdominal musculature	2719	GPC3	OMIM:312870
HP:0010991	Abnormal morphology of the abdominal musculature	2239	GPC4	OMIM:312870
HP:0010991	Abnormal morphology of the abdominal musculature	23729	SHPK	ORPHA:440713
HP:0010991	Abnormal morphology of the abdominal musculature	1131	CHRM3	ORPHA:2970
HP:0010991	Abnormal morphology of the abdominal musculature	1131	CHRM3	OMIM:100100
HP:0010991	Abnormal morphology of the abdominal musculature	129563	DIS3L2	OMIM:267000
HP:0010991	Abnormal morphology of the abdominal musculature	29957	SLC25A24	OMIM:612289
HP:0010991	Abnormal morphology of the abdominal musculature	4126	MANBA	ORPHA:118
HP:0010991	Abnormal morphology of the abdominal musculature	538	ATP7A	ORPHA:565
HP:0010991	Abnormal morphology of the abdominal musculature	1281	COL3A1	ORPHA:286
HP:0010991	Abnormal morphology of the abdominal musculature	6023	RMRP	ORPHA:175
HP:0010991	Abnormal morphology of the abdominal musculature	72	ACTG2	ORPHA:2604
HP:0010991	Abnormal morphology of the abdominal musculature	2317	FLNB	ORPHA:1263
HP:0010991	Abnormal morphology of the abdominal musculature	2200	FBN1	ORPHA:2462
HP:0010991	Abnormal morphology of the abdominal musculature	6497	SKI	ORPHA:2462
HP:0010991	Abnormal morphology of the abdominal musculature	22800	RRAS2	ORPHA:648
HP:0010991	Abnormal morphology of the abdominal musculature	867	CBL	ORPHA:648
HP:0010991	Abnormal morphology of the abdominal musculature	8216	LZTR1	ORPHA:648
HP:0010991	Abnormal morphology of the abdominal musculature	6016	RIT1	ORPHA:648
HP:0010991	Abnormal morphology of the abdominal musculature	6237	RRAS	ORPHA:648
HP:0010991	Abnormal morphology of the abdominal musculature	5894	RAF1	ORPHA:648
HP:0010991	Abnormal morphology of the abdominal musculature	5894	RAF1	ORPHA:500
HP:0010991	Abnormal morphology of the abdominal musculature	22808	MRAS	ORPHA:648
HP:0010991	Abnormal morphology of the abdominal musculature	3845	KRAS	ORPHA:648
HP:0010991	Abnormal morphology of the abdominal musculature	200734	SPRED2	ORPHA:648
HP:0010991	Abnormal morphology of the abdominal musculature	4893	NRAS	ORPHA:648
HP:0010991	Abnormal morphology of the abdominal musculature	6654	SOS1	ORPHA:648
HP:0010991	Abnormal morphology of the abdominal musculature	6655	SOS2	ORPHA:648
HP:0010991	Abnormal morphology of the abdominal musculature	5781	PTPN11	ORPHA:648
HP:0010991	Abnormal morphology of the abdominal musculature	5781	PTPN11	ORPHA:500
HP:0010991	Abnormal morphology of the abdominal musculature	5922	RASA2	ORPHA:648
HP:0010991	Abnormal morphology of the abdominal musculature	4621	MYH3	ORPHA:2990
HP:0010991	Abnormal morphology of the abdominal musculature	1146	CHRNG	ORPHA:2990
HP:0010991	Abnormal morphology of the abdominal musculature	10225	CD96	ORPHA:1308
HP:0010991	Abnormal morphology of the abdominal musculature	57192	MCOLN1	ORPHA:578
HP:0010991	Abnormal morphology of the abdominal musculature	673	BRAF	ORPHA:500
HP:0010991	Abnormal morphology of the abdominal musculature	64131	XYLT1	ORPHA:1425
HP:0010991	Abnormal morphology of the abdominal musculature	124583	CANT1	ORPHA:1425
HP:0010991	Abnormal morphology of the abdominal musculature	55790	CSGALNACT1	ORPHA:1425
HP:0010992	Stress urinary incontinence	4854	NOTCH3	ORPHA:136
HP:0010993	Abnormal cerebral subcortex morphology	9342	SNAP29	OMIM:609528
HP:0010993	Abnormal cerebral subcortex morphology	9342	SNAP29	ORPHA:66631
HP:0010993	Abnormal cerebral subcortex morphology	1387	CREBBP	ORPHA:353277
HP:0010993	Abnormal cerebral subcortex morphology	51259	TMEM216	OMIM:608091
HP:0010993	Abnormal cerebral subcortex morphology	6326	SCN2A	ORPHA:293181
HP:0010993	Abnormal cerebral subcortex morphology	57468	SLC12A5	ORPHA:293181
HP:0010993	Abnormal cerebral subcortex morphology	23236	PLCB1	ORPHA:293181
HP:0010993	Abnormal cerebral subcortex morphology	57582	KCNT1	ORPHA:293181
HP:0010993	Abnormal cerebral subcortex morphology	6323	SCN1A	ORPHA:293181
HP:0010993	Abnormal cerebral subcortex morphology	6323	SCN1A	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	79751	SLC25A22	ORPHA:293181
HP:0010993	Abnormal cerebral subcortex morphology	57465	TBC1D24	ORPHA:293181
HP:0010993	Abnormal cerebral subcortex morphology	8289	ARID1A	OMIM:614607
HP:0010993	Abnormal cerebral subcortex morphology	6598	SMARCB1	OMIM:614608
HP:0010993	Abnormal cerebral subcortex morphology	28514	DLL1	OMIM:618709
HP:0010993	Abnormal cerebral subcortex morphology	28514	DLL1	ORPHA:280195
HP:0010993	Abnormal cerebral subcortex morphology	4297	KMT2A	ORPHA:319182
HP:0010993	Abnormal cerebral subcortex morphology	2253	FGF8	ORPHA:280195
HP:0010993	Abnormal cerebral subcortex morphology	6496	SIX3	ORPHA:280195
HP:0010993	Abnormal cerebral subcortex morphology	7050	TGIF1	ORPHA:280195
HP:0010993	Abnormal cerebral subcortex morphology	4838	NODAL	ORPHA:280195
HP:0010993	Abnormal cerebral subcortex morphology	6469	SHH	ORPHA:280195
HP:0010993	Abnormal cerebral subcortex morphology	7546	ZIC2	ORPHA:280195
HP:0010993	Abnormal cerebral subcortex morphology	6491	STIL	ORPHA:280195
HP:0010993	Abnormal cerebral subcortex morphology	2619	GAS1	ORPHA:280195
HP:0010993	Abnormal cerebral subcortex morphology	84976	DISP1	ORPHA:280195
HP:0010993	Abnormal cerebral subcortex morphology	2736	GLI2	ORPHA:280195
HP:0010993	Abnormal cerebral subcortex morphology	8928	FOXH1	ORPHA:280195
HP:0010993	Abnormal cerebral subcortex morphology	6997	CRIPTO	ORPHA:280195
HP:0010993	Abnormal cerebral subcortex morphology	5727	PTCH1	ORPHA:280195
HP:0010993	Abnormal cerebral subcortex morphology	50937	CDON	ORPHA:280195
HP:0010993	Abnormal cerebral subcortex morphology	1654	DDX3X	ORPHA:3338
HP:0010993	Abnormal cerebral subcortex morphology	27245	AHDC1	ORPHA:412069
HP:0010993	Abnormal cerebral subcortex morphology	4281	MID1	ORPHA:2745
HP:0010993	Abnormal cerebral subcortex morphology	23322	RPGRIP1L	OMIM:611560
HP:0010993	Abnormal cerebral subcortex morphology	2475	MTOR	ORPHA:457485
HP:0010993	Abnormal cerebral subcortex morphology	2033	EP300	ORPHA:353284
HP:0010993	Abnormal cerebral subcortex morphology	3737	KCNA2	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	1759	DNM1	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	8120	AP3B2	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	523	ATP6V1A	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	10991	SLC38A3	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	51343	FZR1	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	3747	KCNC2	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	1917	EEF1A2	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	23219	FBXO28	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	2561	GABRB2	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	8831	SYNGAP1	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	2558	GABRA5	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	2906	GRIN2D	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	116150	NUS1	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	1213	CLTC	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	51741	WWOX	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	23334	SZT2	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	348980	HCN1	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	25977	NECAP1	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	23241	PACS2	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	16	AARS1	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	6334	SCN8A	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	9568	GABBR2	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	2555	GABRA2	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	55152	DALRD3	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	26999	CYFIP2	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	4915	NTRK2	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	25973	PARS2	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	23097	CDK19	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	2257	FGF12	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	5530	PPP3CA	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	478	ATP1A3	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	22906	TRAK1	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	2566	GABRG2	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	7532	YWHAG	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	79876	UBA5	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	781	CACNA2D1	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	10659	CELF2	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	774	CACNA1B	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	51412	ACTL6B	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	2290	FOXG1	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	6506	SLC1A2	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	8867	SYNJ1	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	477	ATP1A2	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	3745	KCNB1	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	22866	CNKSR2	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	773	CACNA1A	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	79947	DHDDS	ORPHA:442835
HP:0010993	Abnormal cerebral subcortex morphology	2581	GALC	ORPHA:206448
HP:0010993	Abnormal cerebral subcortex morphology	5354	PLP1	ORPHA:280229
HP:0010993	Abnormal cerebral subcortex morphology	8241	RBM10	ORPHA:2886
HP:0010993	Abnormal cerebral subcortex morphology	267010	RNU12	ORPHA:512260
HP:0010993	Abnormal cerebral subcortex morphology	3476	IGBP1	OMIM:300472
HP:0010993	Abnormal cerebral subcortex morphology	3476	IGBP1	ORPHA:52055
HP:0010993	Abnormal cerebral subcortex morphology	11113	CIT	OMIM:617090
HP:0010993	Abnormal cerebral subcortex morphology	11113	CIT	ORPHA:2512
HP:0010993	Abnormal cerebral subcortex morphology	23141	ANKLE2	OMIM:616681
HP:0010993	Abnormal cerebral subcortex morphology	23141	ANKLE2	ORPHA:2512
HP:0010993	Abnormal cerebral subcortex morphology	23019	CNOT1	OMIM:618500
HP:0010993	Abnormal cerebral subcortex morphology	23019	CNOT1	ORPHA:556955
HP:0010993	Abnormal cerebral subcortex morphology	1024	CDK8	OMIM:618748
HP:0010993	Abnormal cerebral subcortex morphology	23556	PIGN	ORPHA:2059
HP:0010993	Abnormal cerebral subcortex morphology	81857	MED25	OMIM:616449
HP:0010993	Abnormal cerebral subcortex morphology	81857	MED25	ORPHA:464738
HP:0010993	Abnormal cerebral subcortex morphology	10992	SF3B2	OMIM:164210
HP:0010993	Abnormal cerebral subcortex morphology	2731	GLDC	OMIM:605899
HP:0010993	Abnormal cerebral subcortex morphology	3190	HNRNPK	ORPHA:453504
HP:0010993	Abnormal cerebral subcortex morphology	3190	HNRNPK	ORPHA:352665
HP:0010993	Abnormal cerebral subcortex morphology	55112	DYNC2I1	ORPHA:93271
HP:0010993	Abnormal cerebral subcortex morphology	57560	IFT80	ORPHA:93271
HP:0010993	Abnormal cerebral subcortex morphology	57539	WDR35	ORPHA:93271
HP:0010993	Abnormal cerebral subcortex morphology	79659	DYNC2H1	ORPHA:93271
HP:0010993	Abnormal cerebral subcortex morphology	79659	DYNC2H1	OMIM:613091
HP:0010993	Abnormal cerebral subcortex morphology	89891	DYNC2I2	ORPHA:93271
HP:0010993	Abnormal cerebral subcortex morphology	2073	ERCC5	OMIM:616570
HP:0010993	Abnormal cerebral subcortex morphology	116931	MED12L	OMIM:618872
HP:0010993	Abnormal cerebral subcortex morphology	9578	CDC42BPB	OMIM:619841
HP:0010993	Abnormal cerebral subcortex morphology	6576	SLC25A1	OMIM:618197
HP:0010993	Abnormal cerebral subcortex morphology	4867	NPHP1	ORPHA:220497
HP:0010993	Abnormal cerebral subcortex morphology	22858	CILK1	OMIM:612651
HP:0010993	Abnormal cerebral subcortex morphology	80055	PGAP1	OMIM:615802
HP:0010993	Abnormal cerebral subcortex morphology	80055	PGAP1	ORPHA:401820
HP:0010993	Abnormal cerebral subcortex morphology	2263	FGFR2	ORPHA:87
HP:0010993	Abnormal cerebral subcortex morphology	2263	FGFR2	OMIM:123790
HP:0010993	Abnormal cerebral subcortex morphology	2263	FGFR2	OMIM:101200
HP:0010993	Abnormal cerebral subcortex morphology	56992	KIF15	ORPHA:261323
HP:0010993	Abnormal cerebral subcortex morphology	51360	MBTPS2	ORPHA:2273
HP:0010993	Abnormal cerebral subcortex morphology	284058	KANSL1	ORPHA:363958
HP:0010993	Abnormal cerebral subcortex morphology	284058	KANSL1	ORPHA:363965
HP:0010993	Abnormal cerebral subcortex morphology	1020	CDK5	OMIM:616342
HP:0010993	Abnormal cerebral subcortex morphology	83871	RAB34	OMIM:620718
HP:0010993	Abnormal cerebral subcortex morphology	5173	PDYN	OMIM:610245
HP:0010993	Abnormal cerebral subcortex morphology	55681	SCYL2	OMIM:618766
HP:0010993	Abnormal cerebral subcortex morphology	2018	EMX2	OMIM:269160
HP:0010993	Abnormal cerebral subcortex morphology	546	ATRX	ORPHA:847
HP:0010993	Abnormal cerebral subcortex morphology	7080	NKX2-1	ORPHA:209905
HP:0010993	Abnormal cerebral subcortex morphology	6597	SMARCA4	OMIM:614609
HP:0010993	Abnormal cerebral subcortex morphology	6597	SMARCA4	ORPHA:1465
HP:0010993	Abnormal cerebral subcortex morphology	9401	RECQL4	OMIM:218600
HP:0010993	Abnormal cerebral subcortex morphology	57216	VANGL2	ORPHA:563612
HP:0010993	Abnormal cerebral subcortex morphology	171023	ASXL1	ORPHA:97297
HP:0010993	Abnormal cerebral subcortex morphology	171023	ASXL1	OMIM:605039
HP:0010993	Abnormal cerebral subcortex morphology	9896	FIG4	ORPHA:3472
HP:0010993	Abnormal cerebral subcortex morphology	9896	FIG4	OMIM:216340
HP:0010993	Abnormal cerebral subcortex morphology	55697	VAC14	ORPHA:3472
HP:0010993	Abnormal cerebral subcortex morphology	54872	PIGG	ORPHA:280
HP:0010993	Abnormal cerebral subcortex morphology	7469	NELFA	ORPHA:280
HP:0010993	Abnormal cerebral subcortex morphology	22872	SEC31A	OMIM:618651
HP:0010993	Abnormal cerebral subcortex morphology	57498	KIDINS220	OMIM:619501
HP:0010993	Abnormal cerebral subcortex morphology	55012	PPP2R3C	OMIM:618419
HP:0010993	Abnormal cerebral subcortex morphology	51021	MRPS16	OMIM:610498
HP:0010993	Abnormal cerebral subcortex morphology	11193	WBP4	OMIM:620852
HP:0010993	Abnormal cerebral subcortex morphology	23007	PLCH1	ORPHA:93925
HP:0010993	Abnormal cerebral subcortex morphology	10735	STAG2	ORPHA:93925
HP:0010993	Abnormal cerebral subcortex morphology	10735	STAG2	OMIM:301043
HP:0010993	Abnormal cerebral subcortex morphology	10735	STAG2	ORPHA:220386
HP:0010993	Abnormal cerebral subcortex morphology	79731	NARS2	OMIM:616239
HP:0010993	Abnormal cerebral subcortex morphology	6602	SMARCD1	OMIM:618779
HP:0010993	Abnormal cerebral subcortex morphology	6602	SMARCD1	ORPHA:1465
HP:0010993	Abnormal cerebral subcortex morphology	55623	THUMPD1	OMIM:619989
HP:0010993	Abnormal cerebral subcortex morphology	3192	HNRNPU	ORPHA:238769
HP:0010993	Abnormal cerebral subcortex morphology	9653	HS2ST1	OMIM:619194
HP:0010993	Abnormal cerebral subcortex morphology	129563	DIS3L2	OMIM:267000
HP:0010993	Abnormal cerebral subcortex morphology	1947	EFNB1	OMIM:304110
HP:0010993	Abnormal cerebral subcortex morphology	5518	PPP2R1A	OMIM:616362
HP:0010993	Abnormal cerebral subcortex morphology	5518	PPP2R1A	ORPHA:457284
HP:0010993	Abnormal cerebral subcortex morphology	23512	SUZ12	OMIM:618786
HP:0010993	Abnormal cerebral subcortex morphology	6608	SMO	OMIM:601707
HP:0010993	Abnormal cerebral subcortex morphology	6608	SMO	ORPHA:1553
HP:0010993	Abnormal cerebral subcortex morphology	54539	NDUFB11	OMIM:309801
HP:0010993	Abnormal cerebral subcortex morphology	54539	NDUFB11	ORPHA:2556
HP:0010993	Abnormal cerebral subcortex morphology	54539	NDUFB11	OMIM:300952
HP:0010993	Abnormal cerebral subcortex morphology	1349	COX7B	OMIM:309801
HP:0010993	Abnormal cerebral subcortex morphology	1349	COX7B	OMIM:300887
HP:0010993	Abnormal cerebral subcortex morphology	1349	COX7B	ORPHA:2556
HP:0010993	Abnormal cerebral subcortex morphology	3052	HCCS	OMIM:309801
HP:0010993	Abnormal cerebral subcortex morphology	3052	HCCS	ORPHA:2556
HP:0010993	Abnormal cerebral subcortex morphology	55773	TBC1D23	OMIM:617695
HP:0010993	Abnormal cerebral subcortex morphology	5626	PROP1	ORPHA:226307
HP:0010993	Abnormal cerebral subcortex morphology	5626	PROP1	ORPHA:95494
HP:0010993	Abnormal cerebral subcortex morphology	89884	LHX4	ORPHA:226307
HP:0010993	Abnormal cerebral subcortex morphology	89884	LHX4	ORPHA:95494
HP:0010993	Abnormal cerebral subcortex morphology	8022	LHX3	ORPHA:226307
HP:0010993	Abnormal cerebral subcortex morphology	5449	POU1F1	ORPHA:226307
HP:0010993	Abnormal cerebral subcortex morphology	5449	POU1F1	ORPHA:95494
HP:0010993	Abnormal cerebral subcortex morphology	8820	HESX1	ORPHA:226307
HP:0010993	Abnormal cerebral subcortex morphology	8820	HESX1	ORPHA:95494
HP:0010993	Abnormal cerebral subcortex morphology	8820	HESX1	OMIM:182230
HP:0010993	Abnormal cerebral subcortex morphology	8820	HESX1	ORPHA:3157
HP:0010993	Abnormal cerebral subcortex morphology	4519	MT-CYB	ORPHA:137675
HP:0010993	Abnormal cerebral subcortex morphology	5828	PEX2	OMIM:614866
HP:0010993	Abnormal cerebral subcortex morphology	5590	PRKCZ	ORPHA:1606
HP:0010993	Abnormal cerebral subcortex morphology	2563	GABRD	ORPHA:1606
HP:0010993	Abnormal cerebral subcortex morphology	23013	SPEN	ORPHA:1606
HP:0010993	Abnormal cerebral subcortex morphology	23013	SPEN	OMIM:619312
HP:0010993	Abnormal cerebral subcortex morphology	8510	MMP23B	ORPHA:1606
HP:0010993	Abnormal cerebral subcortex morphology	7798	LUZP1	ORPHA:1606
HP:0010993	Abnormal cerebral subcortex morphology	6497	SKI	ORPHA:1606
HP:0010993	Abnormal cerebral subcortex morphology	10630	PDPN	ORPHA:1606
HP:0010993	Abnormal cerebral subcortex morphology	3339	HSPG2	ORPHA:1606
HP:0010993	Abnormal cerebral subcortex morphology	10277	UBE4B	ORPHA:1606
HP:0010993	Abnormal cerebral subcortex morphology	8514	KCNAB2	ORPHA:1606
HP:0010993	Abnormal cerebral subcortex morphology	63976	PRDM16	ORPHA:1606
HP:0010993	Abnormal cerebral subcortex morphology	54897	CASZ1	ORPHA:1606
HP:0010993	Abnormal cerebral subcortex morphology	6558	SLC12A2	OMIM:619083
HP:0010993	Abnormal cerebral subcortex morphology	10236	HNRNPR	OMIM:620073
HP:0010993	Abnormal cerebral subcortex morphology	3170	FOXA2	ORPHA:95494
HP:0010993	Abnormal cerebral subcortex morphology	5015	OTX2	ORPHA:95494
HP:0010993	Abnormal cerebral subcortex morphology	5015	OTX2	ORPHA:990
HP:0010993	Abnormal cerebral subcortex morphology	5015	OTX2	ORPHA:3157
HP:0010993	Abnormal cerebral subcortex morphology	113179	ADAT3	OMIM:615286
HP:0010993	Abnormal cerebral subcortex morphology	113179	ADAT3	ORPHA:363528
HP:0010993	Abnormal cerebral subcortex morphology	9928	KIF14	OMIM:616258
HP:0010993	Abnormal cerebral subcortex morphology	9928	KIF14	OMIM:617914
HP:0010993	Abnormal cerebral subcortex morphology	9928	KIF14	ORPHA:2512
HP:0010993	Abnormal cerebral subcortex morphology	57492	ARID1B	ORPHA:251056
HP:0010993	Abnormal cerebral subcortex morphology	57492	ARID1B	ORPHA:1465
HP:0010993	Abnormal cerebral subcortex morphology	2271	FH	OMIM:606812
HP:0010993	Abnormal cerebral subcortex morphology	57724	EPG5	OMIM:242840
HP:0010993	Abnormal cerebral subcortex morphology	57724	EPG5	ORPHA:1493
HP:0010993	Abnormal cerebral subcortex morphology	63895	PIEZO2	OMIM:248700
HP:0010993	Abnormal cerebral subcortex morphology	63895	PIEZO2	ORPHA:2461
HP:0010993	Abnormal cerebral subcortex morphology	2239	GPC4	ORPHA:373
HP:0010993	Abnormal cerebral subcortex morphology	2239	GPC4	OMIM:312870
HP:0010993	Abnormal cerebral subcortex morphology	2719	GPC3	ORPHA:373
HP:0010993	Abnormal cerebral subcortex morphology	2719	GPC3	OMIM:312870
HP:0010993	Abnormal cerebral subcortex morphology	10463	SLC30A9	OMIM:617595
HP:0010993	Abnormal cerebral subcortex morphology	8565	YARS1	OMIM:619418
HP:0010993	Abnormal cerebral subcortex morphology	2678	GGT1	OMIM:231950
HP:0010993	Abnormal cerebral subcortex morphology	11023	VAX1	OMIM:614402
HP:0010993	Abnormal cerebral subcortex morphology	51645	PPIL1	OMIM:619301
HP:0010993	Abnormal cerebral subcortex morphology	51362	CDC40	OMIM:619302
HP:0010993	Abnormal cerebral subcortex morphology	5881	RAC3	OMIM:618577
HP:0010993	Abnormal cerebral subcortex morphology	60529	ALX4	ORPHA:228390
HP:0010993	Abnormal cerebral subcortex morphology	55280	CWF19L1	ORPHA:453521
HP:0010993	Abnormal cerebral subcortex morphology	3897	L1CAM	ORPHA:2466
HP:0010993	Abnormal cerebral subcortex morphology	3897	L1CAM	OMIM:303350
HP:0010993	Abnormal cerebral subcortex morphology	3897	L1CAM	OMIM:307000
HP:0010993	Abnormal cerebral subcortex morphology	3897	L1CAM	ORPHA:2182
HP:0010993	Abnormal cerebral subcortex morphology	164	AP1G1	OMIM:619548
HP:0010993	Abnormal cerebral subcortex morphology	1801	DPH1	ORPHA:459061
HP:0010993	Abnormal cerebral subcortex morphology	1802	DPH2	ORPHA:459061
HP:0010993	Abnormal cerebral subcortex morphology	5888	RAD51	ORPHA:238722
HP:0010993	Abnormal cerebral subcortex morphology	5888	RAD51	OMIM:157600
HP:0010993	Abnormal cerebral subcortex morphology	10126	DNAL4	ORPHA:238722
HP:0010993	Abnormal cerebral subcortex morphology	9423	NTN1	ORPHA:238722
HP:0010993	Abnormal cerebral subcortex morphology	9423	NTN1	OMIM:157600
HP:0010993	Abnormal cerebral subcortex morphology	56896	DPYSL5	OMIM:619435
HP:0010993	Abnormal cerebral subcortex morphology	2879	GPX4	ORPHA:93317
HP:0010993	Abnormal cerebral subcortex morphology	5396	PRRX1	OMIM:202650
HP:0010993	Abnormal cerebral subcortex morphology	5396	PRRX1	ORPHA:990
HP:0010993	Abnormal cerebral subcortex morphology	7545	ZIC1	OMIM:616602
HP:0010993	Abnormal cerebral subcortex morphology	7545	ZIC1	OMIM:618736
HP:0010993	Abnormal cerebral subcortex morphology	7473	WNT3	ORPHA:3301
HP:0010993	Abnormal cerebral subcortex morphology	340419	RSPO2	ORPHA:3301
HP:0010993	Abnormal cerebral subcortex morphology	9496	TBX4	ORPHA:3301
HP:0010993	Abnormal cerebral subcortex morphology	55593	OTUD5	OMIM:301056
HP:0010993	Abnormal cerebral subcortex morphology	7707	ZNF148	OMIM:617260
HP:0010993	Abnormal cerebral subcortex morphology	5649	RELN	ORPHA:89844
HP:0010993	Abnormal cerebral subcortex morphology	10300	KATNB1	ORPHA:89844
HP:0010993	Abnormal cerebral subcortex morphology	23030	KDM4B	OMIM:619320
HP:0010993	Abnormal cerebral subcortex morphology	55215	FANCI	OMIM:609053
HP:0010993	Abnormal cerebral subcortex morphology	8320	EOMES	ORPHA:171703
HP:0010993	Abnormal cerebral subcortex morphology	55997	CFC1	OMIM:605376
HP:0010993	Abnormal cerebral subcortex morphology	84892	POMGNT2	ORPHA:899
HP:0010993	Abnormal cerebral subcortex morphology	148789	B3GALNT2	ORPHA:899
HP:0010993	Abnormal cerebral subcortex morphology	10329	RXYLT1	ORPHA:899
HP:0010993	Abnormal cerebral subcortex morphology	1605	DAG1	ORPHA:899
HP:0010993	Abnormal cerebral subcortex morphology	6657	SOX2	ORPHA:77298
HP:0010993	Abnormal cerebral subcortex morphology	6657	SOX2	OMIM:206900
HP:0010993	Abnormal cerebral subcortex morphology	6657	SOX2	ORPHA:3157
HP:0010993	Abnormal cerebral subcortex morphology	4784	NFIX	OMIM:602535
HP:0010993	Abnormal cerebral subcortex morphology	2657	GDF1	OMIM:208530
HP:0010993	Abnormal cerebral subcortex morphology	6659	SOX4	ORPHA:1465
HP:0010993	Abnormal cerebral subcortex morphology	5977	DPF2	ORPHA:1465
HP:0010993	Abnormal cerebral subcortex morphology	6605	SMARCE1	ORPHA:1465
HP:0010993	Abnormal cerebral subcortex morphology	6664	SOX11	ORPHA:1465
HP:0010993	Abnormal cerebral subcortex morphology	5831	PYCR1	OMIM:612940
HP:0010993	Abnormal cerebral subcortex morphology	1063	CENPF	OMIM:243605
HP:0010993	Abnormal cerebral subcortex morphology	1000	CDH2	OMIM:618929
HP:0010993	Abnormal cerebral subcortex morphology	1781	DYNC1I2	OMIM:618492
HP:0010993	Abnormal cerebral subcortex morphology	1583	CYP11A1	ORPHA:289548
HP:0010993	Abnormal cerebral subcortex morphology	1583	CYP11A1	ORPHA:168558
HP:0010993	Abnormal cerebral subcortex morphology	7161	TP73	OMIM:619466
HP:0010993	Abnormal cerebral subcortex morphology	2009	EML1	OMIM:600348
HP:0010993	Abnormal cerebral subcortex morphology	84342	COG8	OMIM:611182
HP:0010993	Abnormal cerebral subcortex morphology	5395	PMS2	OMIM:619101
HP:0010993	Abnormal cerebral subcortex morphology	4990	SIX6	OMIM:206900
HP:0010993	Abnormal cerebral subcortex morphology	2313	FLI1	ORPHA:2308
HP:0010993	Abnormal cerebral subcortex morphology	60386	SLC25A19	ORPHA:99742
HP:0010993	Abnormal cerebral subcortex morphology	60	ACTB	OMIM:243310
HP:0010993	Abnormal cerebral subcortex morphology	64840	PORCN	OMIM:305600
HP:0010993	Abnormal cerebral subcortex morphology	71	ACTG1	OMIM:614583
HP:0010993	Abnormal cerebral subcortex morphology	348180	CTU2	OMIM:618142
HP:0010993	Abnormal cerebral subcortex morphology	374879	ZNF699	OMIM:619488
HP:0010993	Abnormal cerebral subcortex morphology	55640	FLVCR2	OMIM:225790
HP:0010993	Abnormal cerebral subcortex morphology	6299	SALL1	ORPHA:857
HP:0010993	Abnormal cerebral subcortex morphology	51339	DACT1	ORPHA:857
HP:0010993	Abnormal cerebral subcortex morphology	118924	FRA10AC1	OMIM:620113
HP:0010993	Abnormal cerebral subcortex morphology	259266	ASPM	OMIM:608716
HP:0010993	Abnormal cerebral subcortex morphology	259266	ASPM	ORPHA:2512
HP:0010993	Abnormal cerebral subcortex morphology	2177	FANCD2	OMIM:227646
HP:0010993	Abnormal cerebral subcortex morphology	84823	LMNB2	OMIM:616540
HP:0010993	Abnormal cerebral subcortex morphology	8243	SMC1A	ORPHA:220386
HP:0010993	Abnormal cerebral subcortex morphology	8777	MPDZ	OMIM:615219
HP:0010993	Abnormal cerebral subcortex morphology	4292	MLH1	OMIM:276300
HP:0010993	Abnormal cerebral subcortex morphology	22995	CEP152	ORPHA:2512
HP:0010993	Abnormal cerebral subcortex morphology	284403	WDR62	ORPHA:2512
HP:0010993	Abnormal cerebral subcortex morphology	55262	TRAPPC14	ORPHA:2512
HP:0010993	Abnormal cerebral subcortex morphology	163786	SASS6	ORPHA:2512
HP:0010993	Abnormal cerebral subcortex morphology	84879	MFSD2A	ORPHA:2512
HP:0010993	Abnormal cerebral subcortex morphology	4176	MCM7	ORPHA:2512
HP:0010993	Abnormal cerebral subcortex morphology	80254	CEP63	ORPHA:2512
HP:0010993	Abnormal cerebral subcortex morphology	29081	METTL5	ORPHA:2512
HP:0010993	Abnormal cerebral subcortex morphology	79023	NUP37	ORPHA:2512
HP:0010993	Abnormal cerebral subcortex morphology	23310	NCAPD3	ORPHA:2512
HP:0010993	Abnormal cerebral subcortex morphology	6301	SARS1	ORPHA:2512
HP:0010993	Abnormal cerebral subcortex morphology	55755	CDK5RAP2	ORPHA:2512
HP:0010993	Abnormal cerebral subcortex morphology	79648	MCPH1	ORPHA:2512
HP:0010993	Abnormal cerebral subcortex morphology	7109	TRAPPC10	ORPHA:2512
HP:0010993	Abnormal cerebral subcortex morphology	1911	PHC1	ORPHA:2512
HP:0010993	Abnormal cerebral subcortex morphology	1062	CENPE	ORPHA:2512
HP:0010993	Abnormal cerebral subcortex morphology	6884	TAF13	ORPHA:2512
HP:0010993	Abnormal cerebral subcortex morphology	9662	CEP135	ORPHA:2512
HP:0010993	Abnormal cerebral subcortex morphology	57082	KNL1	ORPHA:2512
HP:0010993	Abnormal cerebral subcortex morphology	1021	CDK6	ORPHA:2512
HP:0010993	Abnormal cerebral subcortex morphology	18	ABAT	OMIM:613163
HP:0010993	Abnormal cerebral subcortex morphology	8449	DHX16	OMIM:618733
HP:0010993	Abnormal cerebral subcortex morphology	128674	PROKR2	ORPHA:3157
HP:0010993	Abnormal cerebral subcortex morphology	6658	SOX3	ORPHA:3157
HP:0010993	Abnormal cerebral subcortex morphology	9915	ARNT2	ORPHA:3157
HP:0010993	Abnormal cerebral subcortex morphology	283450	HECTD4	OMIM:620250
HP:0010993	Abnormal cerebral subcortex morphology	2615	LRRC32	OMIM:619074
HP:0010993	Abnormal cerebral subcortex morphology	10785	WDR4	OMIM:618346
HP:0010993	Abnormal cerebral subcortex morphology	6938	TCF12	OMIM:615314
HP:0010993	Abnormal cerebral subcortex morphology	10733	PLK4	OMIM:616171
HP:0010993	Abnormal cerebral subcortex morphology	4190	MDH1	OMIM:618959
HP:0010993	Abnormal cerebral subcortex morphology	139285	AMER1	OMIM:300373
HP:0010993	Abnormal cerebral subcortex morphology	54916	TMEM260	OMIM:617478
HP:0010993	Abnormal cerebral subcortex morphology	64432	MRPS25	OMIM:619025
HP:0010993	Abnormal cerebral subcortex morphology	2137	EXTL3	ORPHA:508533
HP:0010993	Abnormal cerebral subcortex morphology	8036	SHOC2	OMIM:607721
HP:0010993	Abnormal cerebral subcortex morphology	10617	STAMBP	OMIM:614261
HP:0010993	Abnormal cerebral subcortex morphology	104	ADARB1	OMIM:618862
HP:0010993	Abnormal cerebral subcortex morphology	9853	RUSC2	OMIM:617773
HP:0010993	Abnormal cerebral subcortex morphology	1763	DNA2	OMIM:620819
HP:0010993	Abnormal cerebral subcortex morphology	6873	TAF2	OMIM:615599
HP:0010993	Abnormal cerebral subcortex morphology	6873	TAF2	ORPHA:397951
HP:0010993	Abnormal cerebral subcortex morphology	7360	UGP2	OMIM:618744
HP:0010993	Abnormal cerebral subcortex morphology	84942	WDR73	OMIM:251300
HP:0010993	Abnormal cerebral subcortex morphology	6536	SLC6A9	OMIM:617301
HP:0010993	Abnormal cerebral subcortex morphology	5610	EIF2AK2	OMIM:618877
HP:0010993	Abnormal cerebral subcortex morphology	6844	VAMP2	OMIM:618760
HP:0010993	Abnormal cerebral subcortex morphology	6872	TAF1	ORPHA:480907
HP:0010993	Abnormal cerebral subcortex morphology	6872	TAF1	OMIM:300966
HP:0010993	Abnormal cerebral subcortex morphology	1656	DDX6	OMIM:618653
HP:0010993	Abnormal cerebral subcortex morphology	25930	PTPN23	OMIM:618890
HP:0010993	Abnormal cerebral subcortex morphology	23327	NEDD4L	OMIM:617201
HP:0010993	Abnormal cerebral subcortex morphology	2903	GRIN2A	ORPHA:289266
HP:0010993	Abnormal cerebral subcortex morphology	2903	GRIN2A	ORPHA:163721
HP:0010993	Abnormal cerebral subcortex morphology	57178	ZMIZ1	OMIM:618659
HP:0010993	Abnormal cerebral subcortex morphology	8550	MAPKAPK5	OMIM:619869
HP:0010993	Abnormal cerebral subcortex morphology	26040	SETBP1	OMIM:269150
HP:0010993	Abnormal cerebral subcortex morphology	26040	SETBP1	ORPHA:798
HP:0010993	Abnormal cerebral subcortex morphology	1499	CTNNB1	ORPHA:404473
HP:0010993	Abnormal cerebral subcortex morphology	1499	CTNNB1	OMIM:615075
HP:0010993	Abnormal cerebral subcortex morphology	2261	FGFR3	OMIM:616482
HP:0010993	Abnormal cerebral subcortex morphology	2261	FGFR3	ORPHA:85165
HP:0010993	Abnormal cerebral subcortex morphology	9895	TECPR2	OMIM:615031
HP:0010993	Abnormal cerebral subcortex morphology	9895	TECPR2	ORPHA:320385
HP:0010993	Abnormal cerebral subcortex morphology	4613	MYCN	OMIM:620748
HP:0010993	Abnormal cerebral subcortex morphology	7531	YWHAE	ORPHA:217385
HP:0010993	Abnormal cerebral subcortex morphology	7531	YWHAE	ORPHA:531
HP:0010993	Abnormal cerebral subcortex morphology	26137	ZBTB20	OMIM:259050
HP:0010993	Abnormal cerebral subcortex morphology	9533	POLR1C	OMIM:616494
HP:0010993	Abnormal cerebral subcortex morphology	1615	DARS1	OMIM:615281
HP:0010993	Abnormal cerebral subcortex morphology	3800	KIF5C	OMIM:615282
HP:0010993	Abnormal cerebral subcortex morphology	253959	RALGAPA1	OMIM:618797
HP:0010993	Abnormal cerebral subcortex morphology	51098	IFT52	OMIM:617102
HP:0010993	Abnormal cerebral subcortex morphology	57466	SCAF4	OMIM:620511
HP:0010993	Abnormal cerebral subcortex morphology	79971	WLS	OMIM:619648
HP:0010993	Abnormal cerebral subcortex morphology	7841	MOGS	ORPHA:79330
HP:0010993	Abnormal cerebral subcortex morphology	7841	MOGS	OMIM:606056
HP:0010993	Abnormal cerebral subcortex morphology	23162	MAPK8IP3	OMIM:618443
HP:0010993	Abnormal cerebral subcortex morphology	3798	KIF5A	OMIM:617235
HP:0010993	Abnormal cerebral subcortex morphology	51062	ATL1	OMIM:182600
HP:0010993	Abnormal cerebral subcortex morphology	79087	ALG12	ORPHA:79324
HP:0010993	Abnormal cerebral subcortex morphology	79053	ALG8	ORPHA:79325
HP:0010993	Abnormal cerebral subcortex morphology	8295	TRRAP	OMIM:618454
HP:0010993	Abnormal cerebral subcortex morphology	9742	IFT140	OMIM:266920
HP:0010993	Abnormal cerebral subcortex morphology	7040	TGFB1	OMIM:618213
HP:0010993	Abnormal cerebral subcortex morphology	27429	HTRA2	OMIM:617248
HP:0010993	Abnormal cerebral subcortex morphology	11338	U2AF2	OMIM:620535
HP:0010993	Abnormal cerebral subcortex morphology	51013	EXOSC1	OMIM:619304
HP:0010993	Abnormal cerebral subcortex morphology	55770	EXOC2	OMIM:619306
HP:0010993	Abnormal cerebral subcortex morphology	84706	GPT2	OMIM:616281
HP:0010993	Abnormal cerebral subcortex morphology	84706	GPT2	ORPHA:477673
HP:0010993	Abnormal cerebral subcortex morphology	160418	TMTC3	OMIM:617255
HP:0010993	Abnormal cerebral subcortex morphology	2187	FANCB	OMIM:300514
HP:0010993	Abnormal cerebral subcortex morphology	10765	KDM5B	OMIM:618109
HP:0010993	Abnormal cerebral subcortex morphology	10564	ARFGEF2	OMIM:608097
HP:0010993	Abnormal cerebral subcortex morphology	2671	GFER	ORPHA:330054
HP:0010993	Abnormal cerebral subcortex morphology	11160	ERLIN2	ORPHA:209951
HP:0010993	Abnormal cerebral subcortex morphology	11160	ERLIN2	OMIM:611225
HP:0010993	Abnormal cerebral subcortex morphology	56945	MRPS22	OMIM:611719
HP:0010993	Abnormal cerebral subcortex morphology	128869	PIGU	OMIM:618590
HP:0010993	Abnormal cerebral subcortex morphology	5631	PRPS1	ORPHA:423479
HP:0010993	Abnormal cerebral subcortex morphology	5515	PPP2CA	OMIM:618354
HP:0010993	Abnormal cerebral subcortex morphology	55610	VPS50	OMIM:619685
HP:0010993	Abnormal cerebral subcortex morphology	8312	AXIN1	OMIM:620558
HP:0010993	Abnormal cerebral subcortex morphology	26128	KIFBP	ORPHA:66629
HP:0010993	Abnormal cerebral subcortex morphology	26128	KIFBP	OMIM:609460
HP:0010993	Abnormal cerebral subcortex morphology	6904	TBCD	ORPHA:496641
HP:0010993	Abnormal cerebral subcortex morphology	6904	TBCD	OMIM:617193
HP:0010993	Abnormal cerebral subcortex morphology	7337	UBE3A	ORPHA:98794
HP:0010993	Abnormal cerebral subcortex morphology	4948	OCA2	ORPHA:98794
HP:0010993	Abnormal cerebral subcortex morphology	22796	COG2	OMIM:617395
HP:0010993	Abnormal cerebral subcortex morphology	22796	COG2	ORPHA:435934
HP:0010993	Abnormal cerebral subcortex morphology	2560	GABRB1	OMIM:617153
HP:0010993	Abnormal cerebral subcortex morphology	10588	MTHFS	OMIM:618367
HP:0010993	Abnormal cerebral subcortex morphology	23221	RHOBTB2	OMIM:618004
HP:0010993	Abnormal cerebral subcortex morphology	23476	BRD4	OMIM:620568
HP:0010993	Abnormal cerebral subcortex morphology	7965	AIMP2	OMIM:618006
HP:0010993	Abnormal cerebral subcortex morphology	201163	FLCN	OMIM:610883
HP:0010993	Abnormal cerebral subcortex morphology	7703	PCGF2	OMIM:618371
HP:0010993	Abnormal cerebral subcortex morphology	11342	RNF13	OMIM:618379
HP:0010993	Abnormal cerebral subcortex morphology	11342	RNF13	ORPHA:544503
HP:0010993	Abnormal cerebral subcortex morphology	9758	FRMPD4	OMIM:300983
HP:0010993	Abnormal cerebral subcortex morphology	5332	PLCB4	OMIM:620458
HP:0010993	Abnormal cerebral subcortex morphology	8883	NAE1	OMIM:620210
HP:0010993	Abnormal cerebral subcortex morphology	50801	KCNK4	OMIM:618381
HP:0010993	Abnormal cerebral subcortex morphology	84265	POLR3GL	OMIM:619234
HP:0010993	Abnormal cerebral subcortex morphology	2892	GRIA3	ORPHA:364028
HP:0010993	Abnormal cerebral subcortex morphology	26005	C2CD3	ORPHA:434179
HP:0010993	Abnormal cerebral subcortex morphology	26005	C2CD3	OMIM:615948
HP:0010993	Abnormal cerebral subcortex morphology	2571	GAD1	OMIM:619124
HP:0010993	Abnormal cerebral subcortex morphology	2222	FDFT1	OMIM:618156
HP:0010993	Abnormal cerebral subcortex morphology	285590	SH3PXD2B	OMIM:249420
HP:0010993	Abnormal cerebral subcortex morphology	90522	YIF1B	OMIM:619125
HP:0010993	Abnormal cerebral subcortex morphology	8239	USP9X	OMIM:300968
HP:0010993	Abnormal cerebral subcortex morphology	8239	USP9X	ORPHA:480880
HP:0010993	Abnormal cerebral subcortex morphology	9326	ZNHIT3	OMIM:260565
HP:0010993	Abnormal cerebral subcortex morphology	6472	SHMT2	OMIM:619121
HP:0010993	Abnormal cerebral subcortex morphology	29123	ANKRD11	ORPHA:261250
HP:0010993	Abnormal cerebral subcortex morphology	8911	CACNA1I	OMIM:620114
HP:0010993	Abnormal cerebral subcortex morphology	93587	TRMT10A	ORPHA:391408
HP:0010993	Abnormal cerebral subcortex morphology	84919	PPP1R15B	ORPHA:391408
HP:0010993	Abnormal cerebral subcortex morphology	84919	PPP1R15B	OMIM:616817
HP:0010993	Abnormal cerebral subcortex morphology	3090	HIC1	ORPHA:531
HP:0010993	Abnormal cerebral subcortex morphology	340533	NEXMIF	ORPHA:85277
HP:0010993	Abnormal cerebral subcortex morphology	89970	RSPRY1	ORPHA:457395
HP:0010993	Abnormal cerebral subcortex morphology	55005	RMND1	OMIM:614922
HP:0010993	Abnormal cerebral subcortex morphology	10079	ATP9A	OMIM:620242
HP:0010993	Abnormal cerebral subcortex morphology	23299	BICD2	OMIM:618291
HP:0010993	Abnormal cerebral subcortex morphology	64802	NMNAT1	OMIM:619260
HP:0010993	Abnormal cerebral subcortex morphology	129285	PPP1R21	OMIM:619383
HP:0010993	Abnormal cerebral subcortex morphology	3480	IGF1R	OMIM:270450
HP:0010993	Abnormal cerebral subcortex morphology	8085	KMT2D	OMIM:147920
HP:0010993	Abnormal cerebral subcortex morphology	7403	KDM6A	OMIM:147920
HP:0010993	Abnormal cerebral subcortex morphology	10682	EBP	ORPHA:401973
HP:0010993	Abnormal cerebral subcortex morphology	6095	RORA	OMIM:618060
HP:0010993	Abnormal cerebral subcortex morphology	6535	SLC6A8	OMIM:300352
HP:0010993	Abnormal cerebral subcortex morphology	132158	GLYCTK	ORPHA:941
HP:0010993	Abnormal cerebral subcortex morphology	57176	VARS2	OMIM:615917
HP:0010993	Abnormal cerebral subcortex morphology	80222	TARS2	OMIM:615918
HP:0010993	Abnormal cerebral subcortex morphology	89910	UBE3B	OMIM:244450
HP:0010993	Abnormal cerebral subcortex morphology	29072	SETD2	OMIM:620157
HP:0010993	Abnormal cerebral subcortex morphology	29072	SETD2	OMIM:620155
HP:0010993	Abnormal cerebral subcortex morphology	25839	COG4	ORPHA:263501
HP:0010993	Abnormal cerebral subcortex morphology	25839	COG4	OMIM:613489
HP:0010993	Abnormal cerebral subcortex morphology	55157	DARS2	ORPHA:137898
HP:0010993	Abnormal cerebral subcortex morphology	501	ALDH7A1	ORPHA:3006
HP:0010993	Abnormal cerebral subcortex morphology	11212	PLPBP	ORPHA:3006
HP:0010993	Abnormal cerebral subcortex morphology	80856	LNPK	OMIM:618090
HP:0010993	Abnormal cerebral subcortex morphology	26278	SACS	ORPHA:98
HP:0010993	Abnormal cerebral subcortex morphology	23265	EXOC7	OMIM:619072
HP:0010993	Abnormal cerebral subcortex morphology	1798	DPAGT1	ORPHA:86309
HP:0010993	Abnormal cerebral subcortex morphology	7025	NR2F1	ORPHA:401777
HP:0010993	Abnormal cerebral subcortex morphology	149371	EXOC8	OMIM:619076
HP:0010993	Abnormal cerebral subcortex morphology	56006	SMG9	OMIM:616920
HP:0010993	Abnormal cerebral subcortex morphology	27286	SRPX2	ORPHA:163721
HP:0010993	Abnormal cerebral subcortex morphology	285175	UNC80	OMIM:616801
HP:0010993	Abnormal cerebral subcortex morphology	285175	UNC80	ORPHA:371364
HP:0010993	Abnormal cerebral subcortex morphology	54499	TMCO1	OMIM:213980
HP:0010993	Abnormal cerebral subcortex morphology	54499	TMCO1	ORPHA:1394
HP:0010993	Abnormal cerebral subcortex morphology	4094	MAF	ORPHA:1272
HP:0010993	Abnormal cerebral subcortex morphology	5591	PRKDC	OMIM:615966
HP:0010993	Abnormal cerebral subcortex morphology	51244	CCDC174	OMIM:616816
HP:0010993	Abnormal cerebral subcortex morphology	51322	WAC	ORPHA:284169
HP:0010993	Abnormal cerebral subcortex morphology	51322	WAC	OMIM:616708
HP:0010993	Abnormal cerebral subcortex morphology	55275	VPS53	OMIM:615851
HP:0010993	Abnormal cerebral subcortex morphology	200403	VWA3B	OMIM:616948
HP:0010993	Abnormal cerebral subcortex morphology	85021	REPS1	OMIM:617916
HP:0010993	Abnormal cerebral subcortex morphology	85440	DOCK7	OMIM:615859
HP:0010993	Abnormal cerebral subcortex morphology	85440	DOCK7	ORPHA:411986
HP:0010993	Abnormal cerebral subcortex morphology	7407	VARS1	OMIM:617802
HP:0010993	Abnormal cerebral subcortex morphology	57165	GJC2	OMIM:613206
HP:0010993	Abnormal cerebral subcortex morphology	5080	PAX6	OMIM:106210
HP:0010993	Abnormal cerebral subcortex morphology	7490	WT1	OMIM:106210
HP:0010993	Abnormal cerebral subcortex morphology	10075	HUWE1	OMIM:309590
HP:0010993	Abnormal cerebral subcortex morphology	91949	COG7	OMIM:608779
HP:0010993	Abnormal cerebral subcortex morphology	124997	WDR81	OMIM:610185
HP:0010993	Abnormal cerebral subcortex morphology	11020	IFT27	OMIM:615996
HP:0010993	Abnormal cerebral subcortex morphology	5859	QARS1	OMIM:615760
HP:0010993	Abnormal cerebral subcortex morphology	23291	FBXW11	OMIM:618914
HP:0010993	Abnormal cerebral subcortex morphology	10982	MAPRE2	OMIM:616734
HP:0010993	Abnormal cerebral subcortex morphology	51218	GLRX5	OMIM:616859
HP:0010993	Abnormal cerebral subcortex morphology	5053	PAH	ORPHA:2209
HP:0010993	Abnormal cerebral subcortex morphology	4131	MAP1B	OMIM:618918
HP:0010993	Abnormal cerebral subcortex morphology	5925	RB1	ORPHA:1587
HP:0010993	Abnormal cerebral subcortex morphology	23511	NUP188	OMIM:618804
HP:0010993	Abnormal cerebral subcortex morphology	1778	DYNC1H1	OMIM:614563
HP:0010993	Abnormal cerebral subcortex morphology	2058	EPRS1	OMIM:617951
HP:0010993	Abnormal cerebral subcortex morphology	27315	PGAP2	OMIM:614207
HP:0010993	Abnormal cerebral subcortex morphology	57511	COG6	OMIM:614576
HP:0010993	Abnormal cerebral subcortex morphology	9419	CRIPT	OMIM:615789
HP:0010993	Abnormal cerebral subcortex morphology	55644	OSGEP	OMIM:617729
HP:0010993	Abnormal cerebral subcortex morphology	340075	ARSI	ORPHA:401815
HP:0010993	Abnormal cerebral subcortex morphology	4337	MOCS1	OMIM:252150
HP:0010993	Abnormal cerebral subcortex morphology	29957	SLC25A24	OMIM:612289
HP:0010993	Abnormal cerebral subcortex morphology	259232	NALCN	ORPHA:371364
HP:0010993	Abnormal cerebral subcortex morphology	122553	TRAPPC6B	OMIM:617862
HP:0010993	Abnormal cerebral subcortex morphology	51124	IER3IP1	OMIM:614231
HP:0010993	Abnormal cerebral subcortex morphology	2893	GRIA4	OMIM:617864
HP:0010993	Abnormal cerebral subcortex morphology	55704	CCDC88A	OMIM:617507
HP:0010993	Abnormal cerebral subcortex morphology	5455	POU3F3	OMIM:618604
HP:0010993	Abnormal cerebral subcortex morphology	738	VPS51	OMIM:618606
HP:0010993	Abnormal cerebral subcortex morphology	5116	PCNT	ORPHA:2637
HP:0010993	Abnormal cerebral subcortex morphology	2806	GOT2	OMIM:618721
HP:0010993	Abnormal cerebral subcortex morphology	51663	ZFR	ORPHA:401840
HP:0010993	Abnormal cerebral subcortex morphology	1468	SLC25A10	OMIM:618972
HP:0010993	Abnormal cerebral subcortex morphology	1968	EIF2S3	OMIM:300148
HP:0010993	Abnormal cerebral subcortex morphology	5307	PITX1	OMIM:119800
HP:0010993	Abnormal cerebral subcortex morphology	8884	SLC5A6	OMIM:618973
HP:0010993	Abnormal cerebral subcortex morphology	55331	ACER3	OMIM:617762
HP:0010993	Abnormal cerebral subcortex morphology	10844	TUBGCP2	OMIM:618737
HP:0010993	Abnormal cerebral subcortex morphology	4858	NOVA2	OMIM:618859
HP:0010993	Abnormal cerebral subcortex morphology	84148	KAT8	OMIM:618974
HP:0010993	Abnormal cerebral subcortex morphology	87178	PNPT1	ORPHA:319514
HP:0010993	Abnormal cerebral subcortex morphology	2639	GCDH	ORPHA:25
HP:0010993	Abnormal cerebral subcortex morphology	7084	TK2	OMIM:609560
HP:0010993	Abnormal cerebral subcortex morphology	10381	TUBB3	ORPHA:300570
HP:0010993	Abnormal cerebral subcortex morphology	170825	GSX2	OMIM:618646
HP:0010993	Abnormal cerebral subcortex morphology	80704	SLC19A3	OMIM:607483
HP:0010993	Abnormal cerebral subcortex morphology	80704	SLC19A3	ORPHA:263410
HP:0010993	Abnormal cerebral subcortex morphology	8050	PDHX	ORPHA:255182
HP:0010993	Abnormal cerebral subcortex morphology	1376	CPT2	ORPHA:228308
HP:0010993	Abnormal cerebral subcortex morphology	81570	CLPB	ORPHA:445038
HP:0010993	Abnormal cerebral subcortex morphology	11128	POLR3A	ORPHA:447896
HP:0010993	Abnormal cerebral subcortex morphology	79848	CSPP1	ORPHA:397715
HP:0010993	Abnormal cerebral subcortex morphology	9786	KIAA0586	ORPHA:397715
HP:0010993	Abnormal cerebral subcortex morphology	2512	FTL	ORPHA:157846
HP:0010993	Abnormal cerebral subcortex morphology	5621	PRNP	ORPHA:157941
HP:0010993	Abnormal cerebral subcortex morphology	2232	FDXR	ORPHA:543470
HP:0010993	Abnormal cerebral subcortex morphology	549	AUH	ORPHA:67046
HP:0010993	Abnormal cerebral subcortex morphology	8803	SUCLA2	OMIM:612073
HP:0010993	Abnormal cerebral subcortex morphology	9131	AIFM1	OMIM:300816
HP:0010993	Abnormal cerebral subcortex morphology	93986	FOXP2	OMIM:602081
HP:0010993	Abnormal cerebral subcortex morphology	3028	HSD17B10	ORPHA:391428
HP:0010993	Abnormal cerebral subcortex morphology	2074	ERCC6	OMIM:214150
HP:0010993	Abnormal cerebral subcortex morphology	2074	ERCC6	OMIM:133540
HP:0010993	Abnormal cerebral subcortex morphology	2074	ERCC6	ORPHA:90324
HP:0010993	Abnormal cerebral subcortex morphology	2074	ERCC6	ORPHA:90321
HP:0010993	Abnormal cerebral subcortex morphology	2074	ERCC6	OMIM:278800
HP:0010993	Abnormal cerebral subcortex morphology	4558	MT-TF	ORPHA:550
HP:0010993	Abnormal cerebral subcortex morphology	4572	MT-TQ	ORPHA:550
HP:0010993	Abnormal cerebral subcortex morphology	4512	MT-CO1	ORPHA:550
HP:0010993	Abnormal cerebral subcortex morphology	4513	MT-CO2	ORPHA:550
HP:0010993	Abnormal cerebral subcortex morphology	4514	MT-CO3	ORPHA:550
HP:0010993	Abnormal cerebral subcortex morphology	4578	MT-TW	ORPHA:550
HP:0010993	Abnormal cerebral subcortex morphology	4540	MT-ND5	ORPHA:550
HP:0010993	Abnormal cerebral subcortex morphology	4541	MT-ND6	ORPHA:550
HP:0010993	Abnormal cerebral subcortex morphology	4535	MT-ND1	ORPHA:550
HP:0010993	Abnormal cerebral subcortex morphology	4538	MT-ND4	ORPHA:550
HP:0010993	Abnormal cerebral subcortex morphology	4567	MT-TL1	ORPHA:550
HP:0010993	Abnormal cerebral subcortex morphology	4574	MT-TS1	ORPHA:550
HP:0010993	Abnormal cerebral subcortex morphology	4575	MT-TS2	ORPHA:550
HP:0010993	Abnormal cerebral subcortex morphology	4564	MT-TH	ORPHA:550
HP:0010993	Abnormal cerebral subcortex morphology	79621	RNASEH2B	OMIM:610181
HP:0010993	Abnormal cerebral subcortex morphology	58494	JAM2	OMIM:618824
HP:0010993	Abnormal cerebral subcortex morphology	1161	ERCC8	ORPHA:90324
HP:0010993	Abnormal cerebral subcortex morphology	1161	ERCC8	ORPHA:90321
HP:0010993	Abnormal cerebral subcortex morphology	1161	ERCC8	OMIM:216400
HP:0010993	Abnormal cerebral subcortex morphology	9636	ISG15	OMIM:616126
HP:0010993	Abnormal cerebral subcortex morphology	79903	NAA60	OMIM:620786
HP:0010993	Abnormal cerebral subcortex morphology	2072	ERCC4	ORPHA:90321
HP:0010993	Abnormal cerebral subcortex morphology	5932	RBBP8	OMIM:606744
HP:0010993	Abnormal cerebral subcortex morphology	100147744	RNU7-1	OMIM:619487
HP:0010993	Abnormal cerebral subcortex morphology	2767	GNA11	OMIM:615361
HP:0010993	Abnormal cerebral subcortex morphology	5155	PDGFB	OMIM:615483
HP:0010993	Abnormal cerebral subcortex morphology	5155	PDGFB	OMIM:213600
HP:0010993	Abnormal cerebral subcortex morphology	9213	XPR1	OMIM:616413
HP:0010993	Abnormal cerebral subcortex morphology	2625	GATA3	OMIM:146255
HP:0010993	Abnormal cerebral subcortex morphology	64135	IFIH1	OMIM:615846
HP:0010993	Abnormal cerebral subcortex morphology	5159	PDGFRB	OMIM:615007
HP:0010993	Abnormal cerebral subcortex morphology	5159	PDGFRB	OMIM:213600
HP:0010993	Abnormal cerebral subcortex morphology	57462	MYORG	OMIM:618317
HP:0010993	Abnormal cerebral subcortex morphology	5698	PSMB9	OMIM:620796
HP:0010993	Abnormal cerebral subcortex morphology	760	CA2	OMIM:259730
HP:0010993	Abnormal cerebral subcortex morphology	760	CA2	ORPHA:2785
HP:0010993	Abnormal cerebral subcortex morphology	10059	DNM1L	ORPHA:98673
HP:0010993	Abnormal cerebral subcortex morphology	4976	OPA1	ORPHA:98673
HP:0010993	Abnormal cerebral subcortex morphology	90	ACVR1	OMIM:135100
HP:0010993	Abnormal cerebral subcortex morphology	2778	GNAS	OMIM:612462
HP:0010993	Abnormal cerebral subcortex morphology	2778	GNAS	ORPHA:79443
HP:0010993	Abnormal cerebral subcortex morphology	2778	GNAS	ORPHA:79444
HP:0010993	Abnormal cerebral subcortex morphology	2778	GNAS	OMIM:103580
HP:0010993	Abnormal cerebral subcortex morphology	727676	SNORD118	ORPHA:542310
HP:0010993	Abnormal cerebral subcortex morphology	91137	SLC25A46	OMIM:616505
HP:0010993	Abnormal cerebral subcortex morphology	6575	SLC20A2	OMIM:213600
HP:0010993	Abnormal cerebral subcortex morphology	63901	FAM111A	OMIM:127000
HP:0010993	Abnormal cerebral subcortex morphology	63901	FAM111A	ORPHA:93325
HP:0010993	Abnormal cerebral subcortex morphology	56984	PSMG2	OMIM:619183
HP:0010993	Abnormal cerebral subcortex morphology	846	CASR	OMIM:601198
HP:0010993	Abnormal cerebral subcortex morphology	23258	DENND5A	OMIM:617281
HP:0010993	Abnormal cerebral subcortex morphology	23404	EXOSC2	OMIM:617763
HP:0010993	Abnormal cerebral subcortex morphology	7305	TYROBP	OMIM:221770
HP:0010993	Abnormal cerebral subcortex morphology	2071	ERCC3	OMIM:610651
HP:0010993	Abnormal cerebral subcortex morphology	113235	SLC46A1	OMIM:229050
HP:0010993	Abnormal cerebral subcortex morphology	25939	SAMHD1	OMIM:612952
HP:0010993	Abnormal cerebral subcortex morphology	5696	PSMB8	OMIM:256040
HP:0010993	Abnormal cerebral subcortex morphology	8905	AP1S2	OMIM:304340
HP:0010993	Abnormal cerebral subcortex morphology	90952	ESAM	OMIM:620371
HP:0010993	Abnormal cerebral subcortex morphology	1678	TIMM8A	ORPHA:52368
HP:0010993	Abnormal cerebral subcortex morphology	26580	BSCL2	ORPHA:363400
HP:0010993	Abnormal cerebral subcortex morphology	4750	NEK1	OMIM:617892
HP:0010993	Abnormal cerebral subcortex morphology	79133	NDUFAF5	OMIM:618238
HP:0010993	Abnormal cerebral subcortex morphology	4983	OPHN1	ORPHA:137831
HP:0010993	Abnormal cerebral subcortex morphology	1593	CYP27A1	ORPHA:909
HP:0010993	Abnormal cerebral subcortex morphology	80347	COASY	ORPHA:397725
HP:0010993	Abnormal cerebral subcortex morphology	3712	IVD	ORPHA:33
HP:0010993	Abnormal cerebral subcortex morphology	5430	POLR2A	OMIM:618603
HP:0010993	Abnormal cerebral subcortex morphology	4594	MMUT	OMIM:251000
HP:0010993	Abnormal cerebral subcortex morphology	55532	SLC30A10	ORPHA:309854
HP:0010993	Abnormal cerebral subcortex morphology	3417	IDH1	ORPHA:99646
HP:0010993	Abnormal cerebral subcortex morphology	11152	WDR45	OMIM:300894
HP:0010993	Abnormal cerebral subcortex morphology	27072	VPS41	OMIM:619389
HP:0010993	Abnormal cerebral subcortex morphology	83636	C19orf12	OMIM:614298
HP:0010993	Abnormal cerebral subcortex morphology	80025	PANK2	ORPHA:216866
HP:0010993	Abnormal cerebral subcortex morphology	80025	PANK2	OMIM:234200
HP:0010993	Abnormal cerebral subcortex morphology	318	NUDT2	OMIM:619844
HP:0010993	Abnormal cerebral subcortex morphology	1737	DLAT	ORPHA:79244
HP:0010993	Abnormal cerebral subcortex morphology	10749	KIF1C	ORPHA:397946
HP:0010993	Abnormal cerebral subcortex morphology	3064	HTT	ORPHA:399
HP:0010993	Abnormal cerebral subcortex morphology	3064	HTT	ORPHA:248111
HP:0010993	Abnormal cerebral subcortex morphology	6515	SLC2A3	ORPHA:399
HP:0010993	Abnormal cerebral subcortex morphology	9488	PIGB	OMIM:618580
HP:0010993	Abnormal cerebral subcortex morphology	3912	LAMB1	OMIM:615191
HP:0010993	Abnormal cerebral subcortex morphology	3912	LAMB1	ORPHA:352682
HP:0010993	Abnormal cerebral subcortex morphology	7528	YY1	ORPHA:506358
HP:0010993	Abnormal cerebral subcortex morphology	875	CBS	ORPHA:394
HP:0010993	Abnormal cerebral subcortex morphology	8450	CUL4B	OMIM:300354
HP:0010993	Abnormal cerebral subcortex morphology	4524	MTHFR	ORPHA:395
HP:0010993	Abnormal cerebral subcortex morphology	91574	MTRFR	ORPHA:254930
HP:0010993	Abnormal cerebral subcortex morphology	1173	AP2M1	OMIM:618587
HP:0010993	Abnormal cerebral subcortex morphology	9420	CYP7B1	ORPHA:100986
HP:0010993	Abnormal cerebral subcortex morphology	23345	SYNE1	ORPHA:88644
HP:0010993	Abnormal cerebral subcortex morphology	7355	SLC35A2	ORPHA:356961
HP:0010993	Abnormal cerebral subcortex morphology	1786	DNMT1	ORPHA:314404
HP:0010993	Abnormal cerebral subcortex morphology	123263	MTFMT	OMIM:614947
HP:0010993	Abnormal cerebral subcortex morphology	6328	SCN3A	OMIM:617938
HP:0010993	Abnormal cerebral subcortex morphology	79783	SUGCT	ORPHA:35706
HP:0010993	Abnormal cerebral subcortex morphology	6687	SPG7	ORPHA:99013
HP:0010993	Abnormal cerebral subcortex morphology	5551	PRF1	ORPHA:540
HP:0010993	Abnormal cerebral subcortex morphology	8676	STX11	ORPHA:540
HP:0010993	Abnormal cerebral subcortex morphology	201294	UNC13D	ORPHA:540
HP:0010993	Abnormal cerebral subcortex morphology	6813	STXBP2	ORPHA:540
HP:0010993	Abnormal cerebral subcortex morphology	55187	VPS13D	OMIM:607317
HP:0010993	Abnormal cerebral subcortex morphology	3778	KCNMA1	OMIM:618596
HP:0010993	Abnormal cerebral subcortex morphology	5428	POLG	ORPHA:254886
HP:0010993	Abnormal cerebral subcortex morphology	5428	POLG	ORPHA:298
HP:0010993	Abnormal cerebral subcortex morphology	5428	POLG	OMIM:613662
HP:0010993	Abnormal cerebral subcortex morphology	79587	CARS2	ORPHA:477774
HP:0010993	Abnormal cerebral subcortex morphology	6651	SON	OMIM:617140
HP:0010993	Abnormal cerebral subcortex morphology	6651	SON	ORPHA:500150
HP:0010993	Abnormal cerebral subcortex morphology	57520	HECW2	OMIM:617268
HP:0010993	Abnormal cerebral subcortex morphology	51601	LIPT1	OMIM:616299
HP:0010993	Abnormal cerebral subcortex morphology	22880	MORC2	ORPHA:466768
HP:0010993	Abnormal cerebral subcortex morphology	4552	MTRR	ORPHA:2169
HP:0010993	Abnormal cerebral subcortex morphology	998	CDC42	OMIM:616737
HP:0010993	Abnormal cerebral subcortex morphology	8893	EIF2B5	OMIM:620315
HP:0010993	Abnormal cerebral subcortex morphology	55904	KMT2E	OMIM:618512
HP:0010993	Abnormal cerebral subcortex morphology	50	ACO2	OMIM:614559
HP:0010993	Abnormal cerebral subcortex morphology	5048	PAFAH1B1	OMIM:607432
HP:0010993	Abnormal cerebral subcortex morphology	55780	ERMARD	ORPHA:75857
HP:0010993	Abnormal cerebral subcortex morphology	57231	SNX14	ORPHA:397709
HP:0010993	Abnormal cerebral subcortex morphology	1890	TYMP	ORPHA:298
HP:0010993	Abnormal cerebral subcortex morphology	3980	LIG3	ORPHA:298
HP:0010993	Abnormal cerebral subcortex morphology	50484	RRM2B	ORPHA:298
HP:0010993	Abnormal cerebral subcortex morphology	219285	SAMD9L	OMIM:159550
HP:0010993	Abnormal cerebral subcortex morphology	79147	FKRP	OMIM:606612
HP:0010993	Abnormal cerebral subcortex morphology	79147	FKRP	ORPHA:370980
HP:0010993	Abnormal cerebral subcortex morphology	79147	FKRP	OMIM:613153
HP:0010993	Abnormal cerebral subcortex morphology	83696	TRAPPC9	OMIM:613192
HP:0010993	Abnormal cerebral subcortex morphology	84340	GFM2	ORPHA:565624
HP:0010993	Abnormal cerebral subcortex morphology	2590	GALNT2	OMIM:618885
HP:0010993	Abnormal cerebral subcortex morphology	6773	STAT2	OMIM:618886
HP:0010993	Abnormal cerebral subcortex morphology	1183	CLCN4	ORPHA:485350
HP:0010993	Abnormal cerebral subcortex morphology	55858	TMEM165	OMIM:614727
HP:0010993	Abnormal cerebral subcortex morphology	8398	PLA2G6	ORPHA:35069
HP:0010993	Abnormal cerebral subcortex morphology	29967	LRP12	OMIM:164310
HP:0010993	Abnormal cerebral subcortex morphology	80208	SPG11	OMIM:602099
HP:0010993	Abnormal cerebral subcortex morphology	2632	GBE1	OMIM:263570
HP:0010993	Abnormal cerebral subcortex morphology	215	ABCD1	OMIM:300100
HP:0010993	Abnormal cerebral subcortex morphology	215	ABCD1	ORPHA:369942
HP:0010993	Abnormal cerebral subcortex morphology	3155	HMGCL	OMIM:246450
HP:0010993	Abnormal cerebral subcortex morphology	8789	FBP2	OMIM:619864
HP:0010993	Abnormal cerebral subcortex morphology	5277	PIGA	OMIM:300868
HP:0010993	Abnormal cerebral subcortex morphology	2705	GJB1	OMIM:302800
HP:0010993	Abnormal cerebral subcortex morphology	3908	LAMA2	OMIM:618138
HP:0010993	Abnormal cerebral subcortex morphology	2218	FKTN	ORPHA:370980
HP:0010993	Abnormal cerebral subcortex morphology	2218	FKTN	OMIM:613152
HP:0010993	Abnormal cerebral subcortex morphology	729920	CRPPA	ORPHA:370980
HP:0010993	Abnormal cerebral subcortex morphology	10585	POMT1	ORPHA:370980
HP:0010993	Abnormal cerebral subcortex morphology	26834	RNU4-2	OMIM:620851
HP:0010993	Abnormal cerebral subcortex morphology	2697	GJA1	OMIM:164200
HP:0010993	Abnormal cerebral subcortex morphology	80185	TTI2	ORPHA:391307
HP:0010993	Abnormal cerebral subcortex morphology	9997	SCO2	OMIM:604377
HP:0010993	Abnormal cerebral subcortex morphology	953	ENTPD1	ORPHA:401810
HP:0010993	Abnormal cerebral subcortex morphology	953	ENTPD1	OMIM:615683
HP:0010993	Abnormal cerebral subcortex morphology	113612	CYP2U1	OMIM:615030
HP:0010993	Abnormal cerebral subcortex morphology	113612	CYP2U1	ORPHA:320411
HP:0010993	Abnormal cerebral subcortex morphology	57187	THOC2	OMIM:300957
HP:0010993	Abnormal cerebral subcortex morphology	64849	SLC13A3	OMIM:618384
HP:0010993	Abnormal cerebral subcortex morphology	35	ACADS	OMIM:201470
HP:0010993	Abnormal cerebral subcortex morphology	92609	TIMM50	OMIM:617698
HP:0010993	Abnormal cerebral subcortex morphology	79753	SNIP1	OMIM:614501
HP:0010993	Abnormal cerebral subcortex morphology	1497	CTNS	ORPHA:411629
HP:0010993	Abnormal cerebral subcortex morphology	10134	BCAP31	ORPHA:369942
HP:0010993	Abnormal cerebral subcortex morphology	57459	GATAD2B	ORPHA:363686
HP:0010993	Abnormal cerebral subcortex morphology	79813	EHMT1	ORPHA:261652
HP:0010993	Abnormal cerebral subcortex morphology	58508	KMT2C	ORPHA:261652
HP:0010993	Abnormal cerebral subcortex morphology	440138	ALG11	ORPHA:280071
HP:0010993	Abnormal cerebral subcortex morphology	6182	MRPL12	OMIM:618951
HP:0010993	Abnormal cerebral subcortex morphology	11041	B4GAT1	OMIM:615287
HP:0010993	Abnormal cerebral subcortex morphology	134353	LSM11	OMIM:619486
HP:0010993	Abnormal cerebral subcortex morphology	5192	PEX10	OMIM:614871
HP:0010993	Abnormal cerebral subcortex morphology	2670	GFAP	ORPHA:363717
HP:0010993	Abnormal cerebral subcortex morphology	9409	PEX16	OMIM:614877
HP:0010993	Abnormal cerebral subcortex morphology	51473	DCDC2	ORPHA:84081
HP:0010993	Abnormal cerebral subcortex morphology	91147	TMEM67	ORPHA:84081
HP:0010993	Abnormal cerebral subcortex morphology	6509	SLC1A4	OMIM:616657
HP:0010993	Abnormal cerebral subcortex morphology	57704	GBA2	ORPHA:320391
HP:0010993	Abnormal cerebral subcortex morphology	3423	IDS	ORPHA:217093
HP:0010993	Abnormal cerebral subcortex morphology	23314	SATB2	ORPHA:576283
HP:0010993	Abnormal cerebral subcortex morphology	4854	NOTCH3	ORPHA:136
HP:0010993	Abnormal cerebral subcortex morphology	9101	USP8	ORPHA:401795
HP:0010993	Abnormal cerebral subcortex morphology	1436	CSF1R	OMIM:221820
HP:0010993	Abnormal cerebral subcortex morphology	55739	NAXD	OMIM:618321
HP:0010993	Abnormal cerebral subcortex morphology	51	ACOX1	OMIM:618960
HP:0010993	Abnormal cerebral subcortex morphology	5528	PPP2R5D	ORPHA:457279
HP:0010993	Abnormal cerebral subcortex morphology	2186	BPTF	OMIM:617755
HP:0010993	Abnormal cerebral subcortex morphology	3785	KCNQ2	ORPHA:439218
HP:0010993	Abnormal cerebral subcortex morphology	283989	TSEN54	OMIM:277470
HP:0010993	Abnormal cerebral subcortex morphology	57731	SPTBN4	OMIM:617519
HP:0010993	Abnormal cerebral subcortex morphology	84153	RNASEH2C	OMIM:610329
HP:0010993	Abnormal cerebral subcortex morphology	1807	DPYS	OMIM:222748
HP:0010993	Abnormal cerebral subcortex morphology	5832	ALDH18A1	ORPHA:447753
HP:0010993	Abnormal cerebral subcortex morphology	114034	TOE1	ORPHA:284339
HP:0010993	Abnormal cerebral subcortex morphology	9562	MINPP1	ORPHA:284339
HP:0010993	Abnormal cerebral subcortex morphology	23309	SIN3B	ORPHA:500166
HP:0010993	Abnormal cerebral subcortex morphology	25942	SIN3A	ORPHA:500166
HP:0010993	Abnormal cerebral subcortex morphology	11277	TREX1	ORPHA:247691
HP:0010993	Abnormal cerebral subcortex morphology	55181	SMG8	OMIM:619268
HP:0010993	Abnormal cerebral subcortex morphology	84842	HPDL	OMIM:619026
HP:0010993	Abnormal cerebral subcortex morphology	58497	PRUNE1	OMIM:617481
HP:0010993	Abnormal cerebral subcortex morphology	23503	ZFYVE26	ORPHA:100996
HP:0010993	Abnormal cerebral subcortex morphology	4208	MEF2C	OMIM:613443
HP:0010993	Abnormal cerebral subcortex morphology	25978	CHMP2B	ORPHA:275864
HP:0010993	Abnormal cerebral subcortex morphology	25978	CHMP2B	ORPHA:100070
HP:0010993	Abnormal cerebral subcortex morphology	5663	PSEN1	ORPHA:275864
HP:0010993	Abnormal cerebral subcortex morphology	5663	PSEN1	ORPHA:100070
HP:0010993	Abnormal cerebral subcortex morphology	2896	GRN	ORPHA:275864
HP:0010993	Abnormal cerebral subcortex morphology	2896	GRN	ORPHA:100070
HP:0010993	Abnormal cerebral subcortex morphology	54664	TMEM106B	ORPHA:275864
HP:0010993	Abnormal cerebral subcortex morphology	54664	TMEM106B	ORPHA:100070
HP:0010993	Abnormal cerebral subcortex morphology	8878	SQSTM1	ORPHA:275864
HP:0010993	Abnormal cerebral subcortex morphology	4137	MAPT	ORPHA:275864
HP:0010993	Abnormal cerebral subcortex morphology	4137	MAPT	ORPHA:100070
HP:0010993	Abnormal cerebral subcortex morphology	54209	TREM2	ORPHA:275864
HP:0010993	Abnormal cerebral subcortex morphology	54209	TREM2	ORPHA:100070
HP:0010993	Abnormal cerebral subcortex morphology	7415	VCP	ORPHA:275864
HP:0010993	Abnormal cerebral subcortex morphology	7415	VCP	ORPHA:100070
HP:0010993	Abnormal cerebral subcortex morphology	7319	UBE2A	ORPHA:163956
HP:0010993	Abnormal cerebral subcortex morphology	284111	SLC13A5	OMIM:615905
HP:0010993	Abnormal cerebral subcortex morphology	165918	RNF168	ORPHA:420741
HP:0010993	Abnormal cerebral subcortex morphology	80816	ASXL3	ORPHA:352577
HP:0010993	Abnormal cerebral subcortex morphology	410	ARSA	OMIM:250100
HP:0010993	Abnormal cerebral subcortex morphology	10717	AP4B1	OMIM:614066
HP:0010993	Abnormal cerebral subcortex morphology	10717	AP4B1	ORPHA:280763
HP:0010993	Abnormal cerebral subcortex morphology	51501	HIKESHI	OMIM:616881
HP:0010993	Abnormal cerebral subcortex morphology	55823	VPS11	ORPHA:466934
HP:0010993	Abnormal cerebral subcortex morphology	8818	DPM2	ORPHA:329178
HP:0010993	Abnormal cerebral subcortex morphology	51091	SEPSECS	OMIM:613811
HP:0010993	Abnormal cerebral subcortex morphology	90624	LYRM7	OMIM:615838
HP:0010993	Abnormal cerebral subcortex morphology	85358	SHANK3	OMIM:606232
HP:0010993	Abnormal cerebral subcortex morphology	25914	RTTN	ORPHA:468631
HP:0010993	Abnormal cerebral subcortex morphology	285362	SUMF1	OMIM:272200
HP:0010993	Abnormal cerebral subcortex morphology	5660	PSAP	OMIM:249900
HP:0010993	Abnormal cerebral subcortex morphology	5660	PSAP	OMIM:611721
HP:0010993	Abnormal cerebral subcortex morphology	5660	PSAP	ORPHA:206436
HP:0010993	Abnormal cerebral subcortex morphology	54344	DPM3	OMIM:618992
HP:0010993	Abnormal cerebral subcortex morphology	122961	ISCA2	OMIM:616370
HP:0010993	Abnormal cerebral subcortex morphology	55159	RFWD3	OMIM:617784
HP:0010993	Abnormal cerebral subcortex morphology	4010	LMX1B	ORPHA:495818
HP:0010993	Abnormal cerebral subcortex morphology	6812	STXBP1	ORPHA:495818
HP:0010993	Abnormal cerebral subcortex morphology	284217	LAMA1	OMIM:615960
HP:0010993	Abnormal cerebral subcortex morphology	271	AMPD2	OMIM:615686
HP:0010993	Abnormal cerebral subcortex morphology	271	AMPD2	ORPHA:401805
HP:0010993	Abnormal cerebral subcortex morphology	23400	ATP13A2	OMIM:617225
HP:0010993	Abnormal cerebral subcortex morphology	23400	ATP13A2	ORPHA:513436
HP:0010993	Abnormal cerebral subcortex morphology	3781	KCNN2	OMIM:619725
HP:0010993	Abnormal cerebral subcortex morphology	9215	LARGE1	OMIM:608840
HP:0010993	Abnormal cerebral subcortex morphology	9215	LARGE1	ORPHA:370968
HP:0010993	Abnormal cerebral subcortex morphology	29925	GMPPB	ORPHA:370968
HP:0010993	Abnormal cerebral subcortex morphology	29954	POMT2	ORPHA:370968
HP:0010993	Abnormal cerebral subcortex morphology	9179	AP4M1	ORPHA:280763
HP:0010993	Abnormal cerebral subcortex morphology	11154	AP4S1	ORPHA:280763
HP:0010993	Abnormal cerebral subcortex morphology	23431	AP4E1	ORPHA:280763
HP:0010993	Abnormal cerebral subcortex morphology	6748	SSR4	ORPHA:370927
HP:0010993	Abnormal cerebral subcortex morphology	7317	UBA1	ORPHA:1145
HP:0010993	Abnormal cerebral subcortex morphology	5879	RAC1	ORPHA:500159
HP:0010993	Abnormal cerebral subcortex morphology	1282	COL4A1	OMIM:611773
HP:0010993	Abnormal cerebral subcortex morphology	8560	DEGS1	OMIM:618404
HP:0010993	Abnormal cerebral subcortex morphology	10352	WARS2	ORPHA:572798
HP:0010993	Abnormal cerebral subcortex morphology	79152	FA2H	OMIM:612319
HP:0010993	Abnormal cerebral subcortex morphology	54	ACP5	ORPHA:1855
HP:0010993	Abnormal cerebral subcortex morphology	85476	GFM1	OMIM:609060
HP:0010993	Abnormal cerebral subcortex morphology	4508	MT-ATP6	ORPHA:225154
HP:0010993	Abnormal cerebral subcortex morphology	23636	NUP62	ORPHA:225154
HP:0010993	Abnormal cerebral subcortex morphology	53371	NUP54	ORPHA:225154
HP:0010993	Abnormal cerebral subcortex morphology	103	ADAR	ORPHA:225154
HP:0010993	Abnormal cerebral subcortex morphology	9361	LONP1	ORPHA:79243
HP:0010993	Abnormal cerebral subcortex morphology	5160	PDHA1	ORPHA:79243
HP:0010993	Abnormal cerebral subcortex morphology	5160	PDHA1	OMIM:312170
HP:0010993	Abnormal cerebral subcortex morphology	4668	NAGA	OMIM:609242
HP:0010993	Abnormal cerebral subcortex morphology	257	ALX3	OMIM:136760
HP:0010993	Abnormal cerebral subcortex morphology	257	ALX3	ORPHA:391474
HP:0010993	Abnormal cerebral subcortex morphology	8092	ALX1	ORPHA:306542
HP:0010993	Abnormal cerebral subcortex morphology	22827	PUF60	ORPHA:508498
HP:0010993	Abnormal cerebral subcortex morphology	80267	EDEM3	OMIM:619493
HP:0010993	Abnormal cerebral subcortex morphology	5091	PC	OMIM:266150
HP:0010993	Abnormal cerebral subcortex morphology	4718	NDUFC2	OMIM:619170
HP:0010993	Abnormal cerebral subcortex morphology	55621	TRMT1	OMIM:618302
HP:0010993	Abnormal cerebral subcortex morphology	197258	FCSK	OMIM:618324
HP:0010993	Abnormal cerebral subcortex morphology	79029	AFG2B	OMIM:619616
HP:0010993	Abnormal cerebral subcortex morphology	57479	PRR12	OMIM:619539
HP:0010993	Abnormal cerebral subcortex morphology	51002	TPRKB	OMIM:617731
HP:0010993	Abnormal cerebral subcortex morphology	57514	ARHGAP31	OMIM:100300
HP:0010993	Abnormal cerebral subcortex morphology	57514	ARHGAP31	ORPHA:974
HP:0010993	Abnormal cerebral subcortex morphology	3098	HK1	OMIM:618547
HP:0010993	Abnormal cerebral subcortex morphology	23259	DDHD2	ORPHA:320380
HP:0010993	Abnormal cerebral subcortex morphology	5927	KDM5A	OMIM:620820
HP:0010993	Abnormal cerebral subcortex morphology	8496	PPFIBP1	OMIM:620024
HP:0010993	Abnormal cerebral subcortex morphology	5162	PDHB	ORPHA:255138
HP:0010993	Abnormal cerebral subcortex morphology	8621	CDK13	OMIM:617360
HP:0010993	Abnormal cerebral subcortex morphology	7543	ZFX	OMIM:301118
HP:0010993	Abnormal cerebral subcortex morphology	375387	NRROS	OMIM:618875
HP:0010993	Abnormal cerebral subcortex morphology	57505	AARS2	OMIM:615889
HP:0010993	Abnormal cerebral subcortex morphology	200424	TET3	OMIM:618798
HP:0010993	Abnormal cerebral subcortex morphology	55753	OGDHL	OMIM:619701
HP:0010993	Abnormal cerebral subcortex morphology	196528	ARID2	OMIM:617808
HP:0010993	Abnormal cerebral subcortex morphology	3516	RBPJ	ORPHA:974
HP:0010993	Abnormal cerebral subcortex morphology	4851	NOTCH1	ORPHA:974
HP:0010993	Abnormal cerebral subcortex morphology	57572	DOCK6	ORPHA:974
HP:0010993	Abnormal cerebral subcortex morphology	285203	EOGT	ORPHA:974
HP:0010993	Abnormal cerebral subcortex morphology	54567	DLL4	ORPHA:974
HP:0010993	Abnormal cerebral subcortex morphology	4841	NONO	ORPHA:466791
HP:0010993	Abnormal cerebral subcortex morphology	4841	NONO	OMIM:300967
HP:0010993	Abnormal cerebral subcortex morphology	9791	PTDSS1	OMIM:151050
HP:0010993	Abnormal cerebral subcortex morphology	29899	GPSM2	OMIM:604213
HP:0010993	Abnormal cerebral subcortex morphology	58499	ZNF462	ORPHA:502430
HP:0010993	Abnormal cerebral subcortex morphology	9692	PRORP	OMIM:619737
HP:0010993	Abnormal cerebral subcortex morphology	4659	PPP1R12A	OMIM:618820
HP:0010993	Abnormal cerebral subcortex morphology	51807	TUBA8	ORPHA:250972
HP:0010993	Abnormal cerebral subcortex morphology	5361	PLXNA1	OMIM:619955
HP:0010993	Abnormal cerebral subcortex morphology	374969	SVBP	OMIM:618569
HP:0010993	Abnormal cerebral subcortex morphology	11267	SNF8	OMIM:620784
HP:0010993	Abnormal cerebral subcortex morphology	11267	SNF8	OMIM:620783
HP:0010993	Abnormal cerebral subcortex morphology	84081	NSRP1	OMIM:620001
HP:0010993	Abnormal cerebral subcortex morphology	124454	EARS2	OMIM:614924
HP:0010993	Abnormal cerebral subcortex morphology	91647	ATPAF2	OMIM:604273
HP:0010993	Abnormal cerebral subcortex morphology	79228	THOC6	ORPHA:363444
HP:0010993	Abnormal cerebral subcortex morphology	10524	KAT5	OMIM:619103
HP:0010993	Abnormal cerebral subcortex morphology	205327	C2orf69	OMIM:619423
HP:0010993	Abnormal cerebral subcortex morphology	22978	NT5C2	OMIM:613162
HP:0010993	Abnormal cerebral subcortex morphology	5283	PIGH	OMIM:618010
HP:0010993	Abnormal cerebral subcortex morphology	23287	AGTPBP1	OMIM:618276
HP:0010993	Abnormal cerebral subcortex morphology	3313	HSPA9	OMIM:616854
HP:0010993	Abnormal cerebral subcortex morphology	116461	TSEN15	ORPHA:2524
HP:0010993	Abnormal cerebral subcortex morphology	79042	TSEN34	ORPHA:2524
HP:0010993	Abnormal cerebral subcortex morphology	80746	TSEN2	ORPHA:2524
HP:0010993	Abnormal cerebral subcortex morphology	55210	ATAD3A	OMIM:618810
HP:0010993	Abnormal cerebral subcortex morphology	1642	DDB1	OMIM:619426
HP:0010993	Abnormal cerebral subcortex morphology	79633	FAT4	ORPHA:314679
HP:0010993	Abnormal cerebral subcortex morphology	8642	DCHS1	ORPHA:314679
HP:0010993	Abnormal cerebral subcortex morphology	4713	NDUFB7	OMIM:620135
HP:0010993	Abnormal cerebral subcortex morphology	22	ABCB7	OMIM:301310
HP:0010993	Abnormal cerebral subcortex morphology	7443	VRK1	OMIM:607596
HP:0010993	Abnormal cerebral subcortex morphology	10667	FARS2	OMIM:614946
HP:0010993	Abnormal cerebral subcortex morphology	8622	PDE8B	OMIM:609161
HP:0010993	Abnormal cerebral subcortex morphology	291	SLC25A4	ORPHA:254892
HP:0010993	Abnormal cerebral subcortex morphology	56652	TWNK	ORPHA:254892
HP:0010993	Abnormal cerebral subcortex morphology	11232	POLG2	ORPHA:254892
HP:0010993	Abnormal cerebral subcortex morphology	8635	RNASET2	OMIM:612951
HP:0010993	Abnormal cerebral subcortex morphology	23394	ADNP	ORPHA:404448
HP:0010993	Abnormal cerebral subcortex morphology	5286	PIK3C2A	ORPHA:557003
HP:0010993	Abnormal cerebral subcortex morphology	7248	TSC1	OMIM:607341
HP:0010993	Abnormal cerebral subcortex morphology	7249	TSC2	OMIM:607341
HP:0010993	Abnormal cerebral subcortex morphology	9839	ZEB2	ORPHA:261537
HP:0010993	Abnormal cerebral subcortex morphology	9839	ZEB2	ORPHA:261552
HP:0010993	Abnormal cerebral subcortex morphology	9839	ZEB2	OMIM:235730
HP:0010993	Abnormal cerebral subcortex morphology	545	ATR	OMIM:210600
HP:0010993	Abnormal cerebral subcortex morphology	728294	D2HGDH	OMIM:600721
HP:0010993	Abnormal cerebral subcortex morphology	10535	RNASEH2A	ORPHA:51
HP:0010993	Abnormal cerebral subcortex morphology	83480	PUS3	ORPHA:488627
HP:0010993	Abnormal cerebral subcortex morphology	10166	SLC25A15	ORPHA:415
HP:0010993	Abnormal cerebral subcortex morphology	5296	PIK3R2	OMIM:603387
HP:0010993	Abnormal cerebral subcortex morphology	51256	TBC1D7	OMIM:248000
HP:0010993	Abnormal cerebral subcortex morphology	22983	MAST1	OMIM:618273
HP:0010993	Abnormal cerebral subcortex morphology	4849	CNOT3	OMIM:618672
HP:0010993	Abnormal cerebral subcortex morphology	51780	KDM3B	OMIM:618846
HP:0010993	Abnormal cerebral subcortex morphology	7283	TUBG1	OMIM:615412
HP:0010993	Abnormal cerebral subcortex morphology	57282	SLC4A10	OMIM:620746
HP:0010993	Abnormal cerebral subcortex morphology	894	CCND2	OMIM:615938
HP:0010993	Abnormal cerebral subcortex morphology	54496	PRMT7	ORPHA:464288
HP:0010993	Abnormal cerebral subcortex morphology	113246	C12orf57	OMIM:218340
HP:0010993	Abnormal cerebral subcortex morphology	157680	VPS13B	OMIM:216550
HP:0010993	Abnormal cerebral subcortex morphology	158	ADSL	ORPHA:46
HP:0010993	Abnormal cerebral subcortex morphology	3735	KARS1	OMIM:619196
HP:0010993	Abnormal cerebral subcortex morphology	135	ADORA2A	ORPHA:363549
HP:0010993	Abnormal cerebral subcortex morphology	790955	UQCC3	OMIM:616111
HP:0010993	Abnormal cerebral subcortex morphology	2193	FARSA	OMIM:619013
HP:0010993	Abnormal cerebral subcortex morphology	387787	LIPT2	OMIM:617668
HP:0010993	Abnormal cerebral subcortex morphology	7468	NSD2	OMIM:194190
HP:0010993	Abnormal cerebral subcortex morphology	10815	CPLX1	OMIM:194190
HP:0010993	Abnormal cerebral subcortex morphology	1487	CTBP1	OMIM:194190
HP:0010993	Abnormal cerebral subcortex morphology	53834	FGFRL1	OMIM:194190
HP:0010993	Abnormal cerebral subcortex morphology	3954	LETM1	OMIM:194190
HP:0010993	Abnormal cerebral subcortex morphology	4952	OCRL	OMIM:309000
HP:0010993	Abnormal cerebral subcortex morphology	91869	RFT1	ORPHA:244310
HP:0010993	Abnormal cerebral subcortex morphology	131118	DNAJC19	ORPHA:66634
HP:0010993	Abnormal cerebral subcortex morphology	1355	COX15	OMIM:615119
HP:0010993	Abnormal cerebral subcortex morphology	435	ASL	ORPHA:23
HP:0010993	Abnormal cerebral subcortex morphology	51204	TACO1	OMIM:619052
HP:0010993	Abnormal cerebral subcortex morphology	4536	MT-ND2	ORPHA:255210
HP:0010993	Abnormal cerebral subcortex morphology	4537	MT-ND3	ORPHA:255210
HP:0010993	Abnormal cerebral subcortex morphology	4577	MT-TV	ORPHA:255210
HP:0010993	Abnormal cerebral subcortex morphology	4566	MT-TK	ORPHA:255210
HP:0010993	Abnormal cerebral subcortex morphology	4724	NDUFS4	OMIM:252010
HP:0010993	Abnormal cerebral subcortex morphology	57107	PDSS2	OMIM:614652
HP:0010993	Abnormal cerebral subcortex morphology	4719	NDUFS1	OMIM:618226
HP:0010993	Abnormal cerebral subcortex morphology	10128	LRPPRC	ORPHA:70472
HP:0010993	Abnormal cerebral subcortex morphology	84197	POMK	ORPHA:370959
HP:0010993	Abnormal cerebral subcortex morphology	55624	POMGNT1	ORPHA:370959
HP:0010993	Abnormal cerebral subcortex morphology	8925	HERC1	ORPHA:457359
HP:0010993	Abnormal cerebral subcortex morphology	54453	RIN2	OMIM:613075
HP:0010993	Abnormal cerebral subcortex morphology	64857	PLEKHG2	OMIM:616763
HP:0010993	Abnormal cerebral subcortex morphology	220296	HEPACAM	OMIM:613925
HP:0010993	Abnormal cerebral subcortex morphology	220296	HEPACAM	OMIM:613926
HP:0010993	Abnormal cerebral subcortex morphology	2720	GLB1	ORPHA:79255
HP:0010993	Abnormal cerebral subcortex morphology	6792	CDKL5	ORPHA:1934
HP:0010993	Abnormal cerebral subcortex morphology	3736	KCNA1	ORPHA:1934
HP:0010993	Abnormal cerebral subcortex morphology	9091	PIGQ	ORPHA:1934
HP:0010993	Abnormal cerebral subcortex morphology	140679	SLC32A1	ORPHA:1934
HP:0010993	Abnormal cerebral subcortex morphology	2775	GNAO1	ORPHA:1934
HP:0010993	Abnormal cerebral subcortex morphology	81603	TRIM8	ORPHA:1934
HP:0010993	Abnormal cerebral subcortex morphology	2902	GRIN1	ORPHA:1934
HP:0010993	Abnormal cerebral subcortex morphology	2902	GRIN1	ORPHA:208447
HP:0010993	Abnormal cerebral subcortex morphology	150094	SIK1	ORPHA:1934
HP:0010993	Abnormal cerebral subcortex morphology	8573	CASK	ORPHA:1934
HP:0010993	Abnormal cerebral subcortex morphology	23312	DMXL2	ORPHA:1934
HP:0010993	Abnormal cerebral subcortex morphology	2917	GRM7	ORPHA:1934
HP:0010993	Abnormal cerebral subcortex morphology	170302	ARX	ORPHA:1934
HP:0010993	Abnormal cerebral subcortex morphology	11284	PNKP	ORPHA:1934
HP:0010993	Abnormal cerebral subcortex morphology	51227	PIGP	ORPHA:1934
HP:0010993	Abnormal cerebral subcortex morphology	6324	SCN1B	ORPHA:1934
HP:0010993	Abnormal cerebral subcortex morphology	4761	NEUROD2	ORPHA:1934
HP:0010993	Abnormal cerebral subcortex morphology	9990	SLC12A6	OMIM:218000
HP:0010993	Abnormal cerebral subcortex morphology	28962	OSTM1	OMIM:259720
HP:0010993	Abnormal cerebral subcortex morphology	83479	DDX59	OMIM:174300
HP:0010993	Abnormal cerebral subcortex morphology	5654	HTRA1	OMIM:616779
HP:0010993	Abnormal cerebral subcortex morphology	4763	NF1	ORPHA:97685
HP:0010993	Abnormal cerebral subcortex morphology	1513	CTSK	ORPHA:763
HP:0010993	Abnormal cerebral subcortex morphology	9289	ADGRG1	OMIM:606854
HP:0010993	Abnormal cerebral subcortex morphology	9289	ADGRG1	ORPHA:101070
HP:0010993	Abnormal cerebral subcortex morphology	26227	PHGDH	OMIM:601815
HP:0010993	Abnormal cerebral subcortex morphology	3295	HSD17B4	OMIM:261515
HP:0010993	Abnormal cerebral subcortex morphology	404672	GTF2H5	ORPHA:33364
HP:0010993	Abnormal cerebral subcortex morphology	833	CARS1	ORPHA:33364
HP:0010993	Abnormal cerebral subcortex morphology	2068	ERCC2	ORPHA:33364
HP:0010993	Abnormal cerebral subcortex morphology	7737	RNF113A	ORPHA:33364
HP:0010993	Abnormal cerebral subcortex morphology	136647	MPLKIP	ORPHA:33364
HP:0010993	Abnormal cerebral subcortex morphology	6897	TARS1	ORPHA:33364
HP:0010993	Abnormal cerebral subcortex morphology	2961	GTF2E2	ORPHA:33364
HP:0010993	Abnormal cerebral subcortex morphology	6663	SOX10	OMIM:609136
HP:0010993	Abnormal cerebral subcortex morphology	5728	PTEN	ORPHA:101070
HP:0010993	Abnormal cerebral subcortex morphology	57192	MCOLN1	OMIM:252650
HP:0010993	Abnormal cerebral subcortex morphology	23209	MLC1	OMIM:604004
HP:0010993	Abnormal cerebral subcortex morphology	2067	ERCC1	ORPHA:90322
HP:0010993	Abnormal cerebral subcortex morphology	9851	KIAA0753	ORPHA:475
HP:0010993	Abnormal cerebral subcortex morphology	9851	KIAA0753	ORPHA:2754
HP:0010993	Abnormal cerebral subcortex morphology	5147	PDE6D	ORPHA:475
HP:0010993	Abnormal cerebral subcortex morphology	5147	PDE6D	ORPHA:2754
HP:0010993	Abnormal cerebral subcortex morphology	79600	TCTN1	ORPHA:475
HP:0010993	Abnormal cerebral subcortex morphology	79600	TCTN1	ORPHA:564
HP:0010993	Abnormal cerebral subcortex morphology	8481	OFD1	ORPHA:475
HP:0010993	Abnormal cerebral subcortex morphology	8481	OFD1	ORPHA:2754
HP:0010993	Abnormal cerebral subcortex morphology	51684	SUFU	ORPHA:475
HP:0010993	Abnormal cerebral subcortex morphology	153241	CEP120	ORPHA:475
HP:0010993	Abnormal cerebral subcortex morphology	65250	CPLANE1	ORPHA:475
HP:0010993	Abnormal cerebral subcortex morphology	65250	CPLANE1	ORPHA:2754
HP:0010993	Abnormal cerebral subcortex morphology	200894	ARL13B	ORPHA:475
HP:0010993	Abnormal cerebral subcortex morphology	9731	CEP104	ORPHA:475
HP:0010993	Abnormal cerebral subcortex morphology	219844	HYLS1	ORPHA:475
HP:0010993	Abnormal cerebral subcortex morphology	23247	KATNIP	ORPHA:475
HP:0010993	Abnormal cerebral subcortex morphology	219854	TMEM218	ORPHA:475
HP:0010993	Abnormal cerebral subcortex morphology	54903	MKS1	ORPHA:475
HP:0010993	Abnormal cerebral subcortex morphology	54903	MKS1	ORPHA:564
HP:0010993	Abnormal cerebral subcortex morphology	95681	CEP41	ORPHA:475
HP:0010993	Abnormal cerebral subcortex morphology	56623	INPP5E	ORPHA:475
HP:0010993	Abnormal cerebral subcortex morphology	56623	INPP5E	ORPHA:1454
HP:0010993	Abnormal cerebral subcortex morphology	26123	TCTN3	ORPHA:475
HP:0010993	Abnormal cerebral subcortex morphology	26123	TCTN3	ORPHA:2754
HP:0010993	Abnormal cerebral subcortex morphology	26123	TCTN3	ORPHA:564
HP:0010993	Abnormal cerebral subcortex morphology	79867	TCTN2	ORPHA:475
HP:0010993	Abnormal cerebral subcortex morphology	79867	TCTN2	ORPHA:564
HP:0010993	Abnormal cerebral subcortex morphology	80776	B9D2	ORPHA:475
HP:0010993	Abnormal cerebral subcortex morphology	80776	B9D2	ORPHA:564
HP:0010993	Abnormal cerebral subcortex morphology	10464	PIBF1	ORPHA:475
HP:0010993	Abnormal cerebral subcortex morphology	80210	ARMC9	ORPHA:475
HP:0010993	Abnormal cerebral subcortex morphology	23116	TOGARAM1	ORPHA:475
HP:0010993	Abnormal cerebral subcortex morphology	25776	CBY1	ORPHA:475
HP:0010993	Abnormal cerebral subcortex morphology	27077	B9D1	ORPHA:475
HP:0010993	Abnormal cerebral subcortex morphology	27077	B9D1	ORPHA:564
HP:0010993	Abnormal cerebral subcortex morphology	403	ARL3	ORPHA:475
HP:0010993	Abnormal cerebral subcortex morphology	80173	IFT74	ORPHA:475
HP:0010993	Abnormal cerebral subcortex morphology	65062	TMEM237	ORPHA:475
HP:0010993	Abnormal cerebral subcortex morphology	65062	TMEM237	ORPHA:2318
HP:0010993	Abnormal cerebral subcortex morphology	65062	TMEM237	ORPHA:564
HP:0010993	Abnormal cerebral subcortex morphology	3981	LIG4	ORPHA:235
HP:0010993	Abnormal cerebral subcortex morphology	54888	NSUN2	ORPHA:235
HP:0010993	Abnormal cerebral subcortex morphology	27238	GPKOW	ORPHA:2570
HP:0010993	Abnormal cerebral subcortex morphology	6197	RPS6KA3	ORPHA:192
HP:0010993	Abnormal cerebral subcortex morphology	3265	HRAS	ORPHA:2612
HP:0010993	Abnormal cerebral subcortex morphology	3845	KRAS	ORPHA:2612
HP:0010993	Abnormal cerebral subcortex morphology	4893	NRAS	ORPHA:2612
HP:0010993	Abnormal cerebral subcortex morphology	64327	LMBR1	ORPHA:2378
HP:0010993	Abnormal cerebral subcortex morphology	673	BRAF	OMIM:115150
HP:0010993	Abnormal cerebral subcortex morphology	95	ACY1	ORPHA:137754
HP:0010993	Abnormal cerebral subcortex morphology	145173	B3GLCT	ORPHA:709
HP:0010993	Abnormal cerebral subcortex morphology	6925	TCF4	ORPHA:2896
HP:0010993	Abnormal cerebral subcortex morphology	64324	NSD1	ORPHA:821
HP:0010993	Abnormal cerebral subcortex morphology	10297	APC2	ORPHA:821
HP:0010993	Abnormal cerebral subcortex morphology	154881	KCTD7	ORPHA:263516
HP:0010993	Abnormal cerebral subcortex morphology	4036	LRP2	OMIM:222448
HP:0010993	Abnormal cerebral subcortex morphology	4036	LRP2	ORPHA:2143
HP:0010993	Abnormal cerebral subcortex morphology	374654	KIF7	ORPHA:36
HP:0010993	Abnormal cerebral subcortex morphology	374654	KIF7	OMIM:200990
HP:0010993	Abnormal cerebral subcortex morphology	374654	KIF7	ORPHA:2754
HP:0010993	Abnormal cerebral subcortex morphology	51633	OTUD6B	ORPHA:505237
HP:0010993	Abnormal cerebral subcortex morphology	4774	NFIA	ORPHA:401986
HP:0010993	Abnormal cerebral subcortex morphology	54968	TMEM70	ORPHA:1194
HP:0010993	Abnormal cerebral subcortex morphology	51715	RAB23	OMIM:201000
HP:0010993	Abnormal cerebral subcortex morphology	84162	BLTP1	OMIM:617822
HP:0010993	Abnormal cerebral subcortex morphology	2314	FLII	ORPHA:819
HP:0010993	Abnormal cerebral subcortex morphology	23096	IQSEC2	ORPHA:819
HP:0010993	Abnormal cerebral subcortex morphology	10743	RAI1	ORPHA:819
HP:0010993	Abnormal cerebral subcortex morphology	10522	DEAF1	ORPHA:819
HP:0010993	Abnormal cerebral subcortex morphology	1717	DHCR7	ORPHA:818
HP:0010993	Abnormal cerebral subcortex morphology	10472	ZBTB18	ORPHA:36367
HP:0010993	Abnormal cerebral subcortex morphology	51114	ZDHHC9	ORPHA:776
HP:0010993	Abnormal cerebral subcortex morphology	65109	UPF3B	ORPHA:776
HP:0010993	Abnormal cerebral subcortex morphology	9968	MED12	ORPHA:776
HP:0010993	Abnormal cerebral subcortex morphology	9968	MED12	ORPHA:93932
HP:0010993	Abnormal cerebral subcortex morphology	5189	PEX1	OMIM:214100
HP:0010993	Abnormal cerebral subcortex morphology	55691	FRMD4A	OMIM:616819
HP:0010993	Abnormal cerebral subcortex morphology	10479	SLC9A6	ORPHA:85278
HP:0010993	Abnormal cerebral subcortex morphology	10225	CD96	ORPHA:1308
HP:0010993	Abnormal cerebral subcortex morphology	100151683	RNU4ATAC	ORPHA:1824
HP:0010993	Abnormal cerebral subcortex morphology	79583	TMEM231	ORPHA:2318
HP:0010993	Abnormal cerebral subcortex morphology	79583	TMEM231	ORPHA:2754
HP:0010993	Abnormal cerebral subcortex morphology	79583	TMEM231	ORPHA:564
HP:0010993	Abnormal cerebral subcortex morphology	51524	TMEM138	ORPHA:2318
HP:0010993	Abnormal cerebral subcortex morphology	23090	ZNF423	ORPHA:2318
HP:0010993	Abnormal cerebral subcortex morphology	80184	CEP290	ORPHA:2318
HP:0010993	Abnormal cerebral subcortex morphology	80184	CEP290	ORPHA:564
HP:0010993	Abnormal cerebral subcortex morphology	57545	CC2D2A	ORPHA:2318
HP:0010993	Abnormal cerebral subcortex morphology	57545	CC2D2A	ORPHA:564
HP:0010993	Abnormal cerebral subcortex morphology	57545	CC2D2A	ORPHA:1454
HP:0010993	Abnormal cerebral subcortex morphology	22930	RAB3GAP1	ORPHA:2510
HP:0010993	Abnormal cerebral subcortex morphology	22931	RAB18	ORPHA:2510
HP:0010993	Abnormal cerebral subcortex morphology	128637	TBC1D20	ORPHA:2510
HP:0010993	Abnormal cerebral subcortex morphology	10210	TOPORS	ORPHA:2754
HP:0010993	Abnormal cerebral subcortex morphology	317662	FAM149B1	ORPHA:2754
HP:0010993	Abnormal cerebral subcortex morphology	8260	NAA10	ORPHA:568
HP:0010993	Abnormal cerebral subcortex morphology	54880	BCOR	ORPHA:568
HP:0010993	Abnormal cerebral subcortex morphology	2260	FGFR1	ORPHA:2117
HP:0010993	Abnormal cerebral subcortex morphology	84314	TMEM107	ORPHA:564
HP:0010993	Abnormal cerebral subcortex morphology	57096	RPGRIP1	ORPHA:564
HP:0010993	Abnormal cerebral subcortex morphology	79770	TXNDC15	ORPHA:564
HP:0010993	Abnormal cerebral subcortex morphology	652	BMP4	OMIM:607932
HP:0010993	Abnormal cerebral subcortex morphology	9184	BUB3	ORPHA:1052
HP:0010993	Abnormal cerebral subcortex morphology	699	BUB1	ORPHA:1052
HP:0010993	Abnormal cerebral subcortex morphology	9702	CEP57	ORPHA:1052
HP:0010993	Abnormal cerebral subcortex morphology	9319	TRIP13	ORPHA:1052
HP:0010993	Abnormal cerebral subcortex morphology	701	BUB1B	ORPHA:1052
HP:0010993	Abnormal cerebral subcortex morphology	29980	DONSON	OMIM:251230
HP:0010993	Abnormal cerebral subcortex morphology	4702	NDUFA8	OMIM:619272
HP:0010993	Abnormal cerebral subcortex morphology	4099	MAG	OMIM:616680
HP:0010993	Abnormal cerebral subcortex morphology	4125	MAN2B1	OMIM:248500
HP:0010993	Abnormal cerebral subcortex morphology	777	CACNA1E	OMIM:618285
HP:0010993	Abnormal cerebral subcortex morphology	64207	IRF2BPL	OMIM:618088
HP:0010993	Abnormal cerebral subcortex morphology	51728	POLR3K	OMIM:619310
HP:0010993	Abnormal cerebral subcortex morphology	10273	STUB1	ORPHA:412057
HP:0010993	Abnormal cerebral subcortex morphology	9255	AIMP1	OMIM:260600
HP:0010993	Abnormal cerebral subcortex morphology	51692	CPSF3	OMIM:619876
HP:0010993	Abnormal cerebral subcortex morphology	4191	MDH2	OMIM:617339
HP:0010993	Abnormal cerebral subcortex morphology	91875	TTC5	OMIM:619244
HP:0010993	Abnormal cerebral subcortex morphology	23065	EMC1	OMIM:616875
HP:0010993	Abnormal cerebral subcortex morphology	23065	EMC1	ORPHA:480898
HP:0010993	Abnormal cerebral subcortex morphology	51761	ATP8A2	OMIM:615268
HP:0010993	Abnormal cerebral subcortex morphology	8890	EIF2B4	OMIM:620314
HP:0010993	Abnormal cerebral subcortex morphology	79944	L2HGDH	OMIM:236792
HP:0010993	Abnormal cerebral subcortex morphology	1356	CP	ORPHA:48818
HP:0010993	Abnormal cerebral subcortex morphology	10846	PDE10A	ORPHA:494541
HP:0010993	Abnormal cerebral subcortex morphology	10846	PDE10A	OMIM:616922
HP:0010993	Abnormal cerebral subcortex morphology	54820	NDE1	ORPHA:2177
HP:0010993	Abnormal cerebral subcortex morphology	57338	JPH3	ORPHA:98934
HP:0010993	Abnormal cerebral subcortex morphology	120892	LRRK2	OMIM:607060
HP:0010993	Abnormal cerebral subcortex morphology	5071	PRKN	OMIM:600116
HP:0010993	Abnormal cerebral subcortex morphology	2629	GBA1	OMIM:168600
HP:0010993	Abnormal cerebral subcortex morphology	126	ADH1C	OMIM:168600
HP:0010993	Abnormal cerebral subcortex morphology	4576	MT-TT	OMIM:168600
HP:0010993	Abnormal cerebral subcortex morphology	9627	SNCAIP	OMIM:168600
HP:0010993	Abnormal cerebral subcortex morphology	6908	TBP	OMIM:168600
HP:0010993	Abnormal cerebral subcortex morphology	6315	ATXN8OS	OMIM:168600
HP:0010993	Abnormal cerebral subcortex morphology	25793	FBXO7	ORPHA:171695
HP:0010993	Abnormal cerebral subcortex morphology	6622	SNCA	ORPHA:171695
HP:0010993	Abnormal cerebral subcortex morphology	137682	NDUFAF6	OMIM:618239
HP:0010993	Abnormal cerebral subcortex morphology	29968	PSAT1	ORPHA:284417
HP:0010993	Abnormal cerebral subcortex morphology	4677	NARS1	OMIM:619091
HP:0010993	Abnormal cerebral subcortex morphology	23028	KDM1A	ORPHA:477993
HP:0010993	Abnormal cerebral subcortex morphology	23028	KDM1A	OMIM:616728
HP:0010993	Abnormal cerebral subcortex morphology	51075	TMX2	OMIM:618730
HP:0010993	Abnormal cerebral subcortex morphology	112939	NACC1	ORPHA:500545
HP:0010993	Abnormal cerebral subcortex morphology	6513	SLC2A1	ORPHA:168577
HP:0010993	Abnormal cerebral subcortex morphology	6905	TBCE	ORPHA:496756
HP:0010993	Abnormal cerebral subcortex morphology	23230	VPS13A	ORPHA:2388
HP:0010993	Abnormal cerebral subcortex morphology	54187	NANS	OMIM:610442
HP:0010993	Abnormal cerebral subcortex morphology	93627	TBCK	OMIM:616900
HP:0010993	Abnormal cerebral subcortex morphology	26275	HIBCH	ORPHA:88639
HP:0010993	Abnormal cerebral subcortex morphology	1528	CYB5A	ORPHA:621
HP:0010993	Abnormal cerebral subcortex morphology	1727	CYB5R3	ORPHA:621
HP:0010993	Abnormal cerebral subcortex morphology	8506	CNTNAP1	OMIM:616286
HP:0010993	Abnormal cerebral subcortex morphology	85365	ALG2	ORPHA:79326
HP:0010993	Abnormal cerebral subcortex morphology	23474	ETHE1	ORPHA:51188
HP:0010993	Abnormal cerebral subcortex morphology	2737	GLI3	ORPHA:672
HP:0010993	Abnormal cerebral subcortex morphology	10367	MICU1	ORPHA:401768
HP:0010993	Abnormal cerebral subcortex morphology	8802	SUCLG1	ORPHA:17
HP:0010993	Abnormal cerebral subcortex morphology	443	ASPA	ORPHA:314918
HP:0010993	Abnormal cerebral subcortex morphology	56947	MFF	ORPHA:485421
HP:0010993	Abnormal cerebral subcortex morphology	133686	NADK2	ORPHA:431361
HP:0010993	Abnormal cerebral subcortex morphology	54148	MRPL39	OMIM:620646
HP:0010993	Abnormal cerebral subcortex morphology	22868	FASTKD2	OMIM:618855
HP:0010993	Abnormal cerebral subcortex morphology	84705	GTPBP3	ORPHA:444013
HP:0010993	Abnormal cerebral subcortex morphology	56997	COQ8A	ORPHA:139485
HP:0010993	Abnormal cerebral subcortex morphology	10466	COG5	ORPHA:263487
HP:0010993	Abnormal cerebral subcortex morphology	7874	USP7	ORPHA:500055
HP:0010993	Abnormal cerebral subcortex morphology	63899	NSUN3	OMIM:619012
HP:0010993	Abnormal cerebral subcortex morphology	10195	ALG3	ORPHA:79321
HP:0010993	Abnormal cerebral subcortex morphology	200205	IBA57	ORPHA:468661
HP:0010993	Abnormal cerebral subcortex morphology	57531	HACE1	ORPHA:464282
HP:0010993	Abnormal cerebral subcortex morphology	60684	TRAPPC11	ORPHA:369840
HP:0010993	Abnormal cerebral subcortex morphology	128240	NAXE	OMIM:617186
HP:0010993	Abnormal cerebral subcortex morphology	3658	IREB2	OMIM:618451
HP:0010993	Abnormal cerebral subcortex morphology	10398	MYL9	OMIM:619365
HP:0010993	Abnormal cerebral subcortex morphology	1641	DCX	ORPHA:2148
HP:0010993	Abnormal cerebral subcortex morphology	9373	PLAA	ORPHA:521426
HP:0010993	Abnormal cerebral subcortex morphology	84668	HYCC1	OMIM:610532
HP:0010993	Abnormal cerebral subcortex morphology	7846	TUBA1A	ORPHA:171680
HP:0010993	Abnormal cerebral subcortex morphology	157922	CAMSAP1	OMIM:620316
HP:0010993	Abnormal cerebral subcortex morphology	347733	TUBB2B	ORPHA:300573
HP:0010993	Abnormal cerebral subcortex morphology	203068	TUBB	OMIM:615771
HP:0010993	Abnormal cerebral subcortex morphology	1267	CNP	OMIM:619071
HP:0010993	Abnormal cerebral subcortex morphology	2760	GM2A	ORPHA:309246
HP:0010993	Abnormal cerebral subcortex morphology	1630	DCC	OMIM:617542
HP:0010993	Abnormal cerebral subcortex morphology	23499	MACF1	ORPHA:572013
HP:0010993	Abnormal cerebral subcortex morphology	387119	CEP85L	ORPHA:572013
HP:0010993	Abnormal cerebral subcortex morphology	84320	ACBD6	OMIM:620785
HP:0010993	Abnormal cerebral subcortex morphology	9150	CTDP1	ORPHA:48431
HP:0010993	Abnormal cerebral subcortex morphology	84504	NKX6-2	ORPHA:527497
HP:0010993	Abnormal cerebral subcortex morphology	7862	BRPF1	OMIM:617333
HP:0010993	Abnormal cerebral subcortex morphology	23516	SLC39A14	OMIM:617013
HP:0010993	Abnormal cerebral subcortex morphology	23516	SLC39A14	ORPHA:521406
HP:0010993	Abnormal cerebral subcortex morphology	79853	TM4SF20	OMIM:615432
HP:0010993	Abnormal cerebral subcortex morphology	54973	INTS11	OMIM:620428
HP:0010993	Abnormal cerebral subcortex morphology	4762	NEUROG1	OMIM:620469
HP:0010993	Abnormal cerebral subcortex morphology	1822	ATN1	ORPHA:101
HP:0010993	Abnormal cerebral subcortex morphology	7343	UBTF	ORPHA:500180
HP:0010993	Abnormal cerebral subcortex morphology	7343	UBTF	OMIM:617672
HP:0010993	Abnormal cerebral subcortex morphology	51112	TRAPPC12	ORPHA:500144
HP:0010993	Abnormal cerebral subcortex morphology	221496	LEMD2	OMIM:619322
HP:0010993	Abnormal cerebral subcortex morphology	5917	RARS1	ORPHA:438114
HP:0010993	Abnormal cerebral subcortex morphology	1806	DPYD	ORPHA:1675
HP:0010993	Abnormal cerebral subcortex morphology	7453	WARS1	OMIM:620317
HP:0010993	Abnormal cerebral subcortex morphology	4953	ODC1	ORPHA:544488
HP:0010993	Abnormal cerebral subcortex morphology	5290	PIK3CA	ORPHA:99802
HP:0010993	Abnormal cerebral subcortex morphology	10000	AKT3	ORPHA:99802
HP:0010993	Abnormal cerebral subcortex morphology	8913	CACNA1G	ORPHA:458803
HP:0010993	Abnormal cerebral subcortex morphology	6572	SLC18A3	OMIM:617239
HP:0010993	Abnormal cerebral subcortex morphology	815	CAMK2A	OMIM:617798
HP:0010993	Abnormal cerebral subcortex morphology	4358	MPV17	OMIM:256810
HP:0010993	Abnormal cerebral subcortex morphology	29920	PYCR2	ORPHA:481152
HP:0010993	Abnormal cerebral subcortex morphology	2055	CLN8	ORPHA:1947
HP:0010993	Abnormal cerebral subcortex morphology	6821	SUOX	OMIM:272300
HP:0010993	Abnormal cerebral subcortex morphology	2583	B4GALNT1	ORPHA:101006
HP:0010993	Abnormal cerebral subcortex morphology	191	AHCY	ORPHA:88618
HP:0010993	Abnormal cerebral subcortex morphology	6390	SDHB	OMIM:619224
HP:0010993	Abnormal cerebral subcortex morphology	9907	AP5Z1	ORPHA:306511
HP:0010993	Abnormal cerebral subcortex morphology	9907	AP5Z1	OMIM:613647
HP:0010993	Abnormal cerebral subcortex morphology	27133	KCNH5	OMIM:620537
HP:0010993	Abnormal cerebral subcortex morphology	55154	MSTO1	ORPHA:502423
HP:0010993	Abnormal cerebral subcortex morphology	4001	LMNB1	ORPHA:99027
HP:0010993	Abnormal cerebral subcortex morphology	5297	PI4KA	OMIM:619708
HP:0010993	Abnormal cerebral subcortex morphology	84065	TMEM222	OMIM:619470
HP:0010993	Abnormal cerebral subcortex morphology	7555	CNBP	OMIM:602668
HP:0010993	Abnormal cerebral subcortex morphology	6134	RPL10	OMIM:300998
HP:0010993	Abnormal cerebral subcortex morphology	5058	PAK1	OMIM:618158
HP:0010993	Abnormal cerebral subcortex morphology	92335	STRADA	ORPHA:500533
HP:0010993	Abnormal cerebral subcortex morphology	25974	MMACHC	ORPHA:79282
HP:0010993	Abnormal cerebral subcortex morphology	2783	GNB2	OMIM:619503
HP:0010993	Abnormal cerebral subcortex morphology	25782	RAB3GAP2	OMIM:212720
HP:0010993	Abnormal cerebral subcortex morphology	85465	SELENOI	OMIM:618768
HP:0010993	Abnormal cerebral subcortex morphology	59	ACTA2	OMIM:613834
HP:0010993	Abnormal cerebral subcortex morphology	80036	TRPM3	OMIM:620224
HP:0010993	Abnormal cerebral subcortex morphology	10060	ABCC9	OMIM:619719
HP:0010993	Abnormal cerebral subcortex morphology	51102	MECR	ORPHA:508093
HP:0010993	Abnormal cerebral subcortex morphology	26523	AGO1	OMIM:620292
HP:0010993	Abnormal cerebral subcortex morphology	129607	CMPK2	OMIM:621018
HP:0010993	Abnormal cerebral subcortex morphology	5903	RANBP2	ORPHA:88619
HP:0010993	Abnormal cerebral subcortex morphology	23446	SLC44A1	OMIM:618868
HP:0010993	Abnormal cerebral subcortex morphology	9757	KMT2B	ORPHA:589618
HP:0010993	Abnormal cerebral subcortex morphology	54676	GTPBP2	OMIM:617988
HP:0010993	Abnormal cerebral subcortex morphology	64601	VPS16	OMIM:619291
HP:0010993	Abnormal cerebral subcortex morphology	27183	VPS4A	OMIM:619273
HP:0010993	Abnormal cerebral subcortex morphology	55703	POLR3B	OMIM:614381
HP:0010993	Abnormal cerebral subcortex morphology	26235	FBXL4	OMIM:615471
HP:0010993	Abnormal cerebral subcortex morphology	9759	HDAC4	OMIM:619797
HP:0010993	Abnormal cerebral subcortex morphology	2972	BRF1	OMIM:616202
HP:0010993	Abnormal cerebral subcortex morphology	83548	COG3	OMIM:620546
HP:0010993	Abnormal cerebral subcortex morphology	6091	ROBO1	OMIM:620305
HP:0010993	Abnormal cerebral subcortex morphology	4897	NRCAM	OMIM:619833
HP:0010993	Abnormal cerebral subcortex morphology	2653	GCSH	OMIM:620423
HP:0010993	Abnormal cerebral subcortex morphology	347734	SLC35B2	OMIM:620269
HP:0010993	Abnormal cerebral subcortex morphology	3008	H1-4	OMIM:617537
HP:0010993	Abnormal cerebral subcortex morphology	55733	HHAT	OMIM:600092
HP:0010993	Abnormal cerebral subcortex morphology	1119	CHKA	OMIM:620023
HP:0010993	Abnormal cerebral subcortex morphology	9690	UBE3C	OMIM:620270
HP:0010993	Abnormal cerebral subcortex morphology	1729	DIAPH1	ORPHA:477814
HP:0010993	Abnormal cerebral subcortex morphology	3020	H3-3A	OMIM:619720
HP:0010993	Abnormal cerebral subcortex morphology	55182	RNF220	OMIM:619688
HP:0010993	Abnormal cerebral subcortex morphology	9442	MED27	OMIM:619286
HP:0010993	Abnormal cerebral subcortex morphology	1855	DVL1	OMIM:616331
HP:0010993	Abnormal cerebral subcortex morphology	166378	AFG2A	OMIM:616577
HP:0010993	Abnormal cerebral subcortex morphology	3097	HIVEP2	OMIM:616977
HP:0010993	Abnormal cerebral subcortex morphology	84520	GON7	OMIM:619603
HP:0010993	Abnormal cerebral subcortex morphology	25885	POLR1A	OMIM:620675
HP:0010993	Abnormal cerebral subcortex morphology	56246	MRAP	OMIM:607398
HP:0010993	Abnormal cerebral subcortex morphology	79158	GNPTAB	OMIM:252500
HP:0010993	Abnormal cerebral subcortex morphology	161725	OTUD7A	OMIM:620790
HP:0010993	Abnormal cerebral subcortex morphology	51324	SPG21	OMIM:248900
HP:0010993	Abnormal cerebral subcortex morphology	6595	SMARCA2	OMIM:619293
HP:0010993	Abnormal cerebral subcortex morphology	5934	RBL2	OMIM:619690
HP:0010993	Abnormal cerebral subcortex morphology	23250	ATP11A	OMIM:619851
HP:0010993	Abnormal cerebral subcortex morphology	9698	PUM1	OMIM:620719
HP:0010993	Abnormal cerebral subcortex morphology	6601	SMARCC2	OMIM:618362
HP:0010993	Abnormal cerebral subcortex morphology	92255	LMBRD2	OMIM:619694
HP:0010993	Abnormal cerebral subcortex morphology	23522	KAT6B	OMIM:606170
HP:0010993	Abnormal cerebral subcortex morphology	3796	KIF2A	OMIM:615411
HP:0010993	Abnormal cerebral subcortex morphology	11080	DNAJB4	OMIM:620326
HP:0010993	Abnormal cerebral subcortex morphology	7920	ABHD16A	OMIM:619735
HP:0010993	Abnormal cerebral subcortex morphology	819	CAMLG	OMIM:620201
HP:0010993	Abnormal cerebral subcortex morphology	51608	GET4	OMIM:620200
HP:0010993	Abnormal cerebral subcortex morphology	54806	AHI1	OMIM:608629
HP:0010993	Abnormal cerebral subcortex morphology	2898	GRIK2	OMIM:619580
HP:0010993	Abnormal cerebral subcortex morphology	26175	LYSET	OMIM:619345
HP:0010993	Abnormal cerebral subcortex morphology	283987	HID1	OMIM:619983
HP:0010993	Abnormal cerebral subcortex morphology	5442	POLRMT	OMIM:619743
HP:0010993	Abnormal cerebral subcortex morphology	127833	SYT2	OMIM:619461
HP:0010993	Abnormal cerebral subcortex morphology	4338	MOCS2	OMIM:252160
HP:0010993	Abnormal cerebral subcortex morphology	1974	EIF4A2	OMIM:620455
HP:0010993	Abnormal cerebral subcortex morphology	79736	TEFM	OMIM:620451
HP:0010993	Abnormal cerebral subcortex morphology	7074	TIAM1	OMIM:619908
HP:0010993	Abnormal cerebral subcortex morphology	57003	CCDC47	OMIM:618268
HP:0010993	Abnormal cerebral subcortex morphology	1182	CLCN3	OMIM:619512
HP:0010993	Abnormal cerebral subcortex morphology	1182	CLCN3	OMIM:619517
HP:0010993	Abnormal cerebral subcortex morphology	23126	POGZ	OMIM:616364
HP:0010993	Abnormal cerebral subcortex morphology	8558	CDK10	OMIM:617694
HP:0010993	Abnormal cerebral subcortex morphology	1859	DYRK1A	OMIM:614104
HP:0010993	Abnormal cerebral subcortex morphology	9681	DEPDC5	OMIM:620504
HP:0010993	Abnormal cerebral subcortex morphology	23040	MYT1L	OMIM:616521
HP:0010993	Abnormal cerebral subcortex morphology	3839	KPNA3	OMIM:620106
HP:0010993	Abnormal cerebral subcortex morphology	80232	WDR26	OMIM:617616
HP:0010993	Abnormal cerebral subcortex morphology	11340	EXOSC8	ORPHA:2254
HP:0010993	Abnormal cerebral subcortex morphology	5393	EXOSC9	ORPHA:2254
HP:0010993	Abnormal cerebral subcortex morphology	51010	EXOSC3	ORPHA:2254
HP:0010993	Abnormal cerebral subcortex morphology	116115	ZNF526	OMIM:619877
HP:0010993	Abnormal cerebral subcortex morphology	4329	ALDH6A1	OMIM:614105
HP:0010993	Abnormal cerebral subcortex morphology	93210	PGAP3	OMIM:615716
HP:0010993	Abnormal cerebral subcortex morphology	83475	DOHH	OMIM:620066
HP:0010993	Abnormal cerebral subcortex morphology	11198	SUPT16H	OMIM:619480
HP:0010993	Abnormal cerebral subcortex morphology	5605	MAP2K2	OMIM:615280
HP:0010993	Abnormal cerebral subcortex morphology	54828	BCAS3	OMIM:619641
HP:0010993	Abnormal cerebral subcortex morphology	374354	NHLRC2	OMIM:618278
HP:0010993	Abnormal cerebral subcortex morphology	9276	COPB2	OMIM:619884
HP:0010993	Abnormal cerebral subcortex morphology	2316	FLNA	OMIM:300049
HP:0010993	Abnormal cerebral subcortex morphology	23031	MAST3	OMIM:620115
HP:0010993	Abnormal cerebral subcortex morphology	7143	TNR	OMIM:619653
HP:0010993	Abnormal cerebral subcortex morphology	4123	MAN2C1	OMIM:619775
HP:0010993	Abnormal cerebral subcortex morphology	4781	NFIB	OMIM:618286
HP:0010993	Abnormal cerebral subcortex morphology	111	ADCY5	OMIM:619651
HP:0010993	Abnormal cerebral subcortex morphology	1107	CHD3	OMIM:618205
HP:0010993	Abnormal cerebral subcortex morphology	9439	MED23	OMIM:614249
HP:0010993	Abnormal cerebral subcortex morphology	2801	GOLGA2	OMIM:620240
HP:0010993	Abnormal cerebral subcortex morphology	10159	ATP6AP2	OMIM:300423
HP:0010993	Abnormal cerebral subcortex morphology	1892	ECHS1	OMIM:616277
HP:0010993	Abnormal cerebral subcortex morphology	51117	COQ4	OMIM:616276
HP:0010993	Abnormal cerebral subcortex morphology	2752	GLUL	OMIM:620806
HP:0010993	Abnormal cerebral subcortex morphology	221927	BRAT1	OMIM:614498
HP:0010993	Abnormal cerebral subcortex morphology	10664	CTCF	OMIM:615502
HP:0010993	Abnormal cerebral subcortex morphology	5908	RAP1B	OMIM:620654
HP:0010993	Abnormal cerebral subcortex morphology	267	AMFR	OMIM:620379
HP:0010993	Abnormal cerebral subcortex morphology	3708	ITPR1	OMIM:206700
HP:0010993	Abnormal cerebral subcortex morphology	9900	SV2A	OMIM:620772
HP:0010993	Abnormal cerebral subcortex morphology	10533	ATG7	OMIM:619422
HP:0010993	Abnormal cerebral subcortex morphology	57688	ZSWIM6	OMIM:603671
HP:0010993	Abnormal cerebral subcortex morphology	55252	ASXL2	OMIM:617190
HP:0010993	Abnormal cerebral subcortex morphology	1718	DHCR24	OMIM:602398
HP:0010993	Abnormal cerebral subcortex morphology	63925	ZNF335	OMIM:615095
HP:0010993	Abnormal cerebral subcortex morphology	4704	NDUFA9	OMIM:618247
HP:0010993	Abnormal cerebral subcortex morphology	375	ARF1	OMIM:618185
HP:0010993	Abnormal cerebral subcortex morphology	440	ASNS	OMIM:615574
HP:0010993	Abnormal cerebral subcortex morphology	343450	KCNT2	OMIM:617771
HP:0010993	Abnormal cerebral subcortex morphology	84631	SLITRK2	OMIM:301107
HP:0010993	Abnormal cerebral subcortex morphology	27247	NFU1	OMIM:620938
HP:0010993	Abnormal cerebral subcortex morphology	5119	CHMP1A	OMIM:614961
HP:0010993	Abnormal cerebral subcortex morphology	26047	CNTNAP2	OMIM:610042
HP:0010993	Abnormal cerebral subcortex morphology	9487	PIGL	OMIM:280000
HP:0010993	Abnormal cerebral subcortex morphology	6709	SPTAN1	OMIM:613477
HP:0010993	Abnormal cerebral subcortex morphology	2495	FTH1	OMIM:620669
HP:0010993	Abnormal cerebral subcortex morphology	1660	DHX9	OMIM:620988
HP:0010993	Abnormal cerebral subcortex morphology	64919	BCL11B	OMIM:617237
HP:0010993	Abnormal cerebral subcortex morphology	56270	WDR45B	OMIM:617977
HP:0010993	Abnormal cerebral subcortex morphology	54675	CRLS1	OMIM:620167
HP:0010993	Abnormal cerebral subcortex morphology	26576	SRPK3	OMIM:301134
HP:0010993	Abnormal cerebral subcortex morphology	4695	NDUFA2	OMIM:618235
HP:0010993	Abnormal cerebral subcortex morphology	1496	CTNNA2	OMIM:618174
HP:0010993	Abnormal cerebral subcortex morphology	51506	UFC1	OMIM:618076
HP:0010993	Abnormal cerebral subcortex morphology	4700	NDUFA6	OMIM:618253
HP:0010993	Abnormal cerebral subcortex morphology	473	RERE	OMIM:616975
HP:0010993	Abnormal cerebral subcortex morphology	7280	TUBB2A	OMIM:615763
HP:0010993	Abnormal cerebral subcortex morphology	24142	NAA80	OMIM:620830
HP:0010993	Abnormal cerebral subcortex morphology	55361	PI4K2A	OMIM:620732
HP:0010993	Abnormal cerebral subcortex morphology	27445	PCLO	OMIM:608027
HP:0010993	Abnormal cerebral subcortex morphology	9230	RAB11B	OMIM:617807
HP:0010993	Abnormal cerebral subcortex morphology	10978	CLP1	OMIM:615803
HP:0010993	Abnormal cerebral subcortex morphology	26153	KIF26A	OMIM:620156
HP:0010993	Abnormal cerebral subcortex morphology	10430	TMEM147	OMIM:620075
HP:0010993	Abnormal cerebral subcortex morphology	4287	ATXN3	ORPHA:276238
HP:0010993	Abnormal cerebral subcortex morphology	4287	ATXN3	ORPHA:276244
HP:0010993	Abnormal cerebral subcortex morphology	4287	ATXN3	ORPHA:276241
HP:0010993	Abnormal cerebral subcortex morphology	54704	PDP1	ORPHA:79246
HP:0010993	Abnormal cerebral subcortex morphology	2548	GAA	ORPHA:308552
HP:0010993	Abnormal cerebral subcortex morphology	2643	GCH1	ORPHA:98808
HP:0010993	Abnormal cerebral subcortex morphology	4929	NR4A2	ORPHA:98808
HP:0010993	Abnormal cerebral subcortex morphology	3615	IMPDH2	ORPHA:98808
HP:0010993	Abnormal cerebral subcortex morphology	6311	ATXN2	ORPHA:98756
HP:0010993	Abnormal cerebral subcortex morphology	2355	FOSL2	OMIM:620789
HP:0010993	Abnormal cerebral subcortex morphology	129685	TAF8	OMIM:619972
HP:0010993	Abnormal cerebral subcortex morphology	10073	SNUPN	OMIM:620793
HP:0010993	Abnormal cerebral subcortex morphology	4047	LSS	ORPHA:2850
HP:0010993	Abnormal cerebral subcortex morphology	197	AHSG	ORPHA:2850
HP:0010993	Abnormal cerebral subcortex morphology	3694	ITGB6	ORPHA:2850
HP:0010993	Abnormal cerebral subcortex morphology	51704	GPRC5B	OMIM:620447
HP:0010993	Abnormal cerebral subcortex morphology	361	AQP4	OMIM:620448
HP:0010994	Abnormal corpus striatum morphology	1641	DCX	ORPHA:2148
HP:0010994	Abnormal corpus striatum morphology	2639	GCDH	ORPHA:25
HP:0010994	Abnormal corpus striatum morphology	93986	FOXP2	ORPHA:209908
HP:0010994	Abnormal corpus striatum morphology	2512	FTL	ORPHA:157846
HP:0010994	Abnormal corpus striatum morphology	347733	TUBB2B	ORPHA:300573
HP:0010994	Abnormal corpus striatum morphology	23400	ATP13A2	ORPHA:314632
HP:0010994	Abnormal corpus striatum morphology	54209	TREM2	OMIM:618193
HP:0010994	Abnormal corpus striatum morphology	1678	TIMM8A	ORPHA:52368
HP:0010994	Abnormal corpus striatum morphology	9361	LONP1	OMIM:600373
HP:0010994	Abnormal corpus striatum morphology	26580	BSCL2	ORPHA:363400
HP:0010994	Abnormal corpus striatum morphology	7305	TYROBP	OMIM:221770
HP:0010994	Abnormal corpus striatum morphology	440	ASNS	OMIM:615574
HP:0010994	Abnormal corpus striatum morphology	4750	NEK1	OMIM:617892
HP:0010994	Abnormal corpus striatum morphology	79133	NDUFAF5	OMIM:618238
HP:0010994	Abnormal corpus striatum morphology	4983	OPHN1	ORPHA:137831
HP:0010994	Abnormal corpus striatum morphology	4508	MT-ATP6	ORPHA:225154
HP:0010994	Abnormal corpus striatum morphology	23636	NUP62	ORPHA:225154
HP:0010994	Abnormal corpus striatum morphology	53371	NUP54	ORPHA:225154
HP:0010994	Abnormal corpus striatum morphology	9131	AIFM1	ORPHA:238329
HP:0010994	Abnormal corpus striatum morphology	87178	PNPT1	ORPHA:319514
HP:0010994	Abnormal corpus striatum morphology	80347	COASY	ORPHA:397725
HP:0010994	Abnormal corpus striatum morphology	1356	CP	ORPHA:48818
HP:0010994	Abnormal corpus striatum morphology	10846	PDE10A	ORPHA:494541
HP:0010994	Abnormal corpus striatum morphology	10846	PDE10A	OMIM:616922
HP:0010994	Abnormal corpus striatum morphology	54820	NDE1	ORPHA:2177
HP:0010994	Abnormal corpus striatum morphology	57338	JPH3	ORPHA:98934
HP:0010994	Abnormal corpus striatum morphology	11128	POLR3A	ORPHA:3455
HP:0010994	Abnormal corpus striatum morphology	51102	MECR	ORPHA:508093
HP:0010994	Abnormal corpus striatum morphology	23230	VPS13A	ORPHA:2388
HP:0010994	Abnormal corpus striatum morphology	5903	RANBP2	ORPHA:88619
HP:0010994	Abnormal corpus striatum morphology	10381	TUBB3	OMIM:614039
HP:0010994	Abnormal corpus striatum morphology	8622	PDE8B	OMIM:609161
HP:0010994	Abnormal corpus striatum morphology	3064	HTT	ORPHA:399
HP:0010994	Abnormal corpus striatum morphology	6515	SLC2A3	ORPHA:399
HP:0010994	Abnormal corpus striatum morphology	4287	ATXN3	ORPHA:276238
HP:0010994	Abnormal corpus striatum morphology	4287	ATXN3	ORPHA:276244
HP:0010994	Abnormal corpus striatum morphology	4287	ATXN3	ORPHA:276241
HP:0010994	Abnormal corpus striatum morphology	10535	RNASEH2A	ORPHA:51
HP:0010994	Abnormal corpus striatum morphology	84153	RNASEH2C	ORPHA:51
HP:0010994	Abnormal corpus striatum morphology	25939	SAMHD1	ORPHA:51
HP:0010994	Abnormal corpus striatum morphology	79621	RNASEH2B	ORPHA:51
HP:0010994	Abnormal corpus striatum morphology	103	ADAR	ORPHA:51
HP:0010994	Abnormal corpus striatum morphology	11277	TREX1	ORPHA:51
HP:0010994	Abnormal corpus striatum morphology	100147744	RNU7-1	ORPHA:51
HP:0010994	Abnormal corpus striatum morphology	134353	LSM11	ORPHA:51
HP:0010994	Abnormal corpus striatum morphology	64135	IFIH1	ORPHA:51
HP:0010995	Abnormal circulating dicarboxylic acid concentration	4953	ODC1	OMIM:619075
HP:0010995	Abnormal circulating dicarboxylic acid concentration	229	ALDOB	OMIM:229600
HP:0010995	Abnormal circulating dicarboxylic acid concentration	57680	CHD8	OMIM:615032
HP:0010995	Abnormal circulating dicarboxylic acid concentration	6006	RHCE	OMIM:617970
HP:0010995	Abnormal circulating dicarboxylic acid concentration	6006	RHCE	ORPHA:71275
HP:0010995	Abnormal circulating dicarboxylic acid concentration	54914	FOCAD	OMIM:619991
HP:0010995	Abnormal circulating dicarboxylic acid concentration	2936	GSR	OMIM:618660
HP:0010995	Abnormal circulating dicarboxylic acid concentration	6711	SPTBN1	OMIM:619475
HP:0010995	Abnormal circulating dicarboxylic acid concentration	3783	KCNN4	OMIM:616689
HP:0010995	Abnormal circulating dicarboxylic acid concentration	3145	HMBS	OMIM:620704
HP:0010995	Abnormal circulating dicarboxylic acid concentration	222546	RFX6	OMIM:615710
HP:0010995	Abnormal circulating dicarboxylic acid concentration	100151683	RNU4ATAC	OMIM:210710
HP:0010995	Abnormal circulating dicarboxylic acid concentration	132	ADK	OMIM:614300
HP:0010995	Abnormal circulating dicarboxylic acid concentration	6710	SPTB	OMIM:616649
HP:0010995	Abnormal circulating dicarboxylic acid concentration	6710	SPTB	ORPHA:822
HP:0010995	Abnormal circulating dicarboxylic acid concentration	6710	SPTB	ORPHA:288
HP:0010995	Abnormal circulating dicarboxylic acid concentration	57539	WDR35	OMIM:613610
HP:0010995	Abnormal circulating dicarboxylic acid concentration	9420	CYP7B1	OMIM:613812
HP:0010995	Abnormal circulating dicarboxylic acid concentration	9420	CYP7B1	ORPHA:79302
HP:0010995	Abnormal circulating dicarboxylic acid concentration	23600	AMACR	OMIM:214950
HP:0010995	Abnormal circulating dicarboxylic acid concentration	2623	GATA1	OMIM:301083
HP:0010995	Abnormal circulating dicarboxylic acid concentration	286	ANK1	OMIM:182900
HP:0010995	Abnormal circulating dicarboxylic acid concentration	286	ANK1	ORPHA:822
HP:0010995	Abnormal circulating dicarboxylic acid concentration	2038	EPB42	ORPHA:822
HP:0010995	Abnormal circulating dicarboxylic acid concentration	6521	SLC4A1	ORPHA:822
HP:0010995	Abnormal circulating dicarboxylic acid concentration	6521	SLC4A1	OMIM:612653
HP:0010995	Abnormal circulating dicarboxylic acid concentration	6708	SPTA1	ORPHA:822
HP:0010995	Abnormal circulating dicarboxylic acid concentration	6708	SPTA1	ORPHA:288
HP:0010995	Abnormal circulating dicarboxylic acid concentration	6718	AKR1D1	ORPHA:79303
HP:0010995	Abnormal circulating dicarboxylic acid concentration	6718	AKR1D1	OMIM:235555
HP:0010995	Abnormal circulating dicarboxylic acid concentration	10165	SLC25A13	OMIM:605814
HP:0010995	Abnormal circulating dicarboxylic acid concentration	10165	SLC25A13	ORPHA:247598
HP:0010995	Abnormal circulating dicarboxylic acid concentration	7849	PAX8	OMIM:218700
HP:0010995	Abnormal circulating dicarboxylic acid concentration	5443	POMC	OMIM:609734
HP:0010995	Abnormal circulating dicarboxylic acid concentration	6573	SLC19A1	OMIM:601775
HP:0010995	Abnormal circulating dicarboxylic acid concentration	55610	VPS50	OMIM:619685
HP:0010995	Abnormal circulating dicarboxylic acid concentration	6514	SLC2A2	OMIM:227810
HP:0010995	Abnormal circulating dicarboxylic acid concentration	374879	ZNF699	OMIM:619488
HP:0010995	Abnormal circulating dicarboxylic acid concentration	5205	ATP8B1	ORPHA:69665
HP:0010995	Abnormal circulating dicarboxylic acid concentration	8647	ABCB11	ORPHA:69665
HP:0010995	Abnormal circulating dicarboxylic acid concentration	5244	ABCB4	ORPHA:69665
HP:0010995	Abnormal circulating dicarboxylic acid concentration	9971	NR1H4	ORPHA:69665
HP:0010995	Abnormal circulating dicarboxylic acid concentration	3098	HK1	OMIM:235700
HP:0010995	Abnormal circulating dicarboxylic acid concentration	226	ALDOA	OMIM:611881
HP:0010995	Abnormal circulating dicarboxylic acid concentration	5015	OTX2	OMIM:613986
HP:0010995	Abnormal circulating dicarboxylic acid concentration	9338	TCEAL1	OMIM:301094
HP:0010995	Abnormal circulating dicarboxylic acid concentration	540	ATP7B	OMIM:277900
HP:0010995	Abnormal circulating dicarboxylic acid concentration	2271	FH	OMIM:606812
HP:0010995	Abnormal circulating dicarboxylic acid concentration	9968	MED12	OMIM:301068
HP:0010995	Abnormal circulating dicarboxylic acid concentration	9493	KIF23	ORPHA:98870
HP:0010995	Abnormal circulating dicarboxylic acid concentration	29127	RACGAP1	ORPHA:98870
HP:0010995	Abnormal circulating dicarboxylic acid concentration	6005	RHAG	OMIM:185000
HP:0010995	Abnormal circulating dicarboxylic acid concentration	6005	RHAG	ORPHA:71275
HP:0010995	Abnormal circulating dicarboxylic acid concentration	55687	TRMU	OMIM:613070
HP:0010995	Abnormal circulating dicarboxylic acid concentration	79989	IFT56	OMIM:619534
HP:0010995	Abnormal circulating dicarboxylic acid concentration	3930	LBR	OMIM:613471
HP:0010995	Abnormal circulating dicarboxylic acid concentration	7019	TFAM	OMIM:617156
HP:0010995	Abnormal circulating dicarboxylic acid concentration	8260	NAA10	OMIM:300855
HP:0010995	Abnormal circulating dicarboxylic acid concentration	10661	KLF1	OMIM:613673
HP:0010995	Abnormal circulating dicarboxylic acid concentration	4358	MPV17	OMIM:256810
HP:0010995	Abnormal circulating dicarboxylic acid concentration	5824	PEX19	OMIM:614886
HP:0010995	Abnormal circulating dicarboxylic acid concentration	9451	EIF2AK3	ORPHA:1667
HP:0010995	Abnormal circulating dicarboxylic acid concentration	1716	DGUOK	OMIM:251880
HP:0010995	Abnormal circulating dicarboxylic acid concentration	28962	OSTM1	OMIM:259720
HP:0010995	Abnormal circulating dicarboxylic acid concentration	2035	EPB41	ORPHA:288
HP:0010995	Abnormal circulating dicarboxylic acid concentration	2995	GYPC	ORPHA:288
HP:0010995	Abnormal circulating dicarboxylic acid concentration	4547	MTTP	ORPHA:14
HP:0010995	Abnormal circulating dicarboxylic acid concentration	51251	NT5C3A	OMIM:266120
HP:0010995	Abnormal circulating dicarboxylic acid concentration	5825	ABCD3	OMIM:616278
HP:0010995	Abnormal circulating dicarboxylic acid concentration	146059	CDAN1	OMIM:224120
HP:0010995	Abnormal circulating dicarboxylic acid concentration	5230	PGK1	ORPHA:713
HP:0010995	Abnormal circulating dicarboxylic acid concentration	28234	SLCO1B3	ORPHA:3111
HP:0010995	Abnormal circulating dicarboxylic acid concentration	10599	SLCO1B1	ORPHA:3111
HP:0010995	Abnormal circulating dicarboxylic acid concentration	26276	VPS33B	OMIM:620010
HP:0010995	Abnormal circulating dicarboxylic acid concentration	6007	RHD	ORPHA:71275
HP:0010995	Abnormal circulating dicarboxylic acid concentration	6309	SC5D	OMIM:607330
HP:0010995	Abnormal circulating dicarboxylic acid concentration	1244	ABCC2	ORPHA:234
HP:0010995	Abnormal circulating dicarboxylic acid concentration	1244	ABCC2	OMIM:237500
HP:0010995	Abnormal circulating dicarboxylic acid concentration	80270	HSD3B7	OMIM:607765
HP:0010995	Abnormal circulating dicarboxylic acid concentration	3376	IARS1	OMIM:617093
HP:0010995	Abnormal circulating dicarboxylic acid concentration	51218	GLRX5	OMIM:616860
HP:0010995	Abnormal circulating dicarboxylic acid concentration	2629	GBA1	ORPHA:85212
HP:0010995	Abnormal circulating dicarboxylic acid concentration	26503	SLC17A5	OMIM:269920
HP:0010995	Abnormal circulating dicarboxylic acid concentration	570	BAAT	OMIM:619232
HP:0010995	Abnormal circulating dicarboxylic acid concentration	3643	INSR	OMIM:246200
HP:0010995	Abnormal circulating dicarboxylic acid concentration	11232	POLG2	OMIM:618528
HP:0010995	Abnormal circulating dicarboxylic acid concentration	5828	PEX2	OMIM:614866
HP:0010995	Abnormal circulating dicarboxylic acid concentration	6091	ROBO1	OMIM:620305
HP:0010995	Abnormal circulating dicarboxylic acid concentration	5195	PEX14	OMIM:614887
HP:0010995	Abnormal circulating dicarboxylic acid concentration	6513	SLC2A1	ORPHA:168577
HP:0010995	Abnormal circulating dicarboxylic acid concentration	6513	SLC2A1	OMIM:608885
HP:0010995	Abnormal circulating dicarboxylic acid concentration	5314	PKHD1	ORPHA:53035
HP:0010995	Abnormal circulating dicarboxylic acid concentration	5009	OTC	ORPHA:664
HP:0010995	Abnormal circulating dicarboxylic acid concentration	197131	UBR1	OMIM:243800
HP:0010995	Abnormal circulating dicarboxylic acid concentration	3594	IL12RB1	ORPHA:186
HP:0010995	Abnormal circulating dicarboxylic acid concentration	23534	TNPO3	ORPHA:186
HP:0010995	Abnormal circulating dicarboxylic acid concentration	3592	IL12A	ORPHA:186
HP:0010995	Abnormal circulating dicarboxylic acid concentration	6689	SPIB	ORPHA:186
HP:0010995	Abnormal circulating dicarboxylic acid concentration	5450	POU2AF1	ORPHA:186
HP:0010995	Abnormal circulating dicarboxylic acid concentration	9966	TNFSF15	ORPHA:186
HP:0010995	Abnormal circulating dicarboxylic acid concentration	79258	MMEL1	ORPHA:186
HP:0010995	Abnormal circulating dicarboxylic acid concentration	3663	IRF5	ORPHA:186
HP:0010995	Abnormal circulating dicarboxylic acid concentration	200931	SLC51A	OMIM:619484
HP:0010995	Abnormal circulating dicarboxylic acid concentration	113220	KIF12	OMIM:619662
HP:0010995	Abnormal circulating dicarboxylic acid concentration	63894	VIPAS39	OMIM:613404
HP:0010995	Abnormal circulating dicarboxylic acid concentration	4645	MYO5B	OMIM:619868
HP:0010995	Abnormal circulating dicarboxylic acid concentration	4067	LYN	OMIM:620376
HP:0010995	Abnormal circulating dicarboxylic acid concentration	4552	MTRR	OMIM:236270
HP:0010995	Abnormal circulating dicarboxylic acid concentration	197322	ACSF3	ORPHA:289504
HP:0010995	Abnormal circulating dicarboxylic acid concentration	8802	SUCLG1	ORPHA:17
HP:0010995	Abnormal circulating dicarboxylic acid concentration	8803	SUCLA2	OMIM:612073
HP:0010995	Abnormal circulating dicarboxylic acid concentration	55788	LMBRD1	OMIM:277380
HP:0010995	Abnormal circulating dicarboxylic acid concentration	25974	MMACHC	ORPHA:79282
HP:0010995	Abnormal circulating dicarboxylic acid concentration	25974	MMACHC	OMIM:277400
HP:0010995	Abnormal circulating dicarboxylic acid concentration	3054	HCFC1	OMIM:309541
HP:0010995	Abnormal circulating dicarboxylic acid concentration	4329	ALDH6A1	OMIM:614105
HP:0010995	Abnormal circulating dicarboxylic acid concentration	51293	CD320	OMIM:613646
HP:0010995	Abnormal circulating dicarboxylic acid concentration	5826	ABCD4	OMIM:614857
HP:0010995	Abnormal circulating dicarboxylic acid concentration	27249	MMADHC	OMIM:277410
HP:0010995	Abnormal circulating dicarboxylic acid concentration	326625	MMAB	OMIM:251110
HP:0010995	Abnormal circulating dicarboxylic acid concentration	4594	MMUT	OMIM:251000
HP:0010995	Abnormal circulating dicarboxylic acid concentration	5052	PRDX1	OMIM:277400
HP:0010995	Abnormal circulating dicarboxylic acid concentration	166785	MMAA	OMIM:251100
HP:0010995	Abnormal circulating dicarboxylic acid concentration	3479	IGF1	ORPHA:73272
HP:0010995	Abnormal circulating dicarboxylic acid concentration	7355	SLC35A2	OMIM:300896
HP:0010995	Abnormal circulating dicarboxylic acid concentration	2876	GPX1	OMIM:614164
HP:0010995	Abnormal circulating dicarboxylic acid concentration	405753	DUOXA2	ORPHA:95716
HP:0010995	Abnormal circulating dicarboxylic acid concentration	6528	SLC5A5	ORPHA:95716
HP:0010995	Abnormal circulating dicarboxylic acid concentration	7038	TG	ORPHA:95716
HP:0010995	Abnormal circulating dicarboxylic acid concentration	7173	TPO	ORPHA:95716
HP:0010995	Abnormal circulating dicarboxylic acid concentration	389434	IYD	ORPHA:95716
HP:0010995	Abnormal circulating dicarboxylic acid concentration	50506	DUOX2	ORPHA:95716
HP:0010995	Abnormal circulating dicarboxylic acid concentration	10908	PNPLA6	ORPHA:3363
HP:0010995	Abnormal circulating dicarboxylic acid concentration	5048	PAFAH1B1	ORPHA:95232
HP:0010995	Abnormal circulating dicarboxylic acid concentration	9780	PIEZO1	ORPHA:3202
HP:0010995	Abnormal circulating dicarboxylic acid concentration	2203	FBP1	ORPHA:348
HP:0010995	Abnormal circulating dicarboxylic acid concentration	1371	CPOX	OMIM:618892
HP:0010995	Abnormal circulating dicarboxylic acid concentration	7319	UBE2A	ORPHA:163956
HP:0010995	Abnormal circulating dicarboxylic acid concentration	54658	UGT1A1	ORPHA:79234
HP:0010995	Abnormal circulating dicarboxylic acid concentration	54658	UGT1A1	ORPHA:79235
HP:0010995	Abnormal circulating dicarboxylic acid concentration	7253	TSHR	ORPHA:90673
HP:0010995	Abnormal circulating dicarboxylic acid concentration	7252	TSHB	ORPHA:90674
HP:0010995	Abnormal circulating dicarboxylic acid concentration	79783	SUGCT	ORPHA:35706
HP:0010995	Abnormal circulating dicarboxylic acid concentration	131118	DNAJC19	ORPHA:66634
HP:0010995	Abnormal circulating dicarboxylic acid concentration	2110	ETFDH	OMIM:231680
HP:0010995	Abnormal circulating dicarboxylic acid concentration	2108	ETFA	OMIM:231680
HP:0010995	Abnormal circulating dicarboxylic acid concentration	2109	ETFB	OMIM:231680
HP:0010995	Abnormal circulating dicarboxylic acid concentration	2639	GCDH	OMIM:231670
HP:0010995	Abnormal circulating dicarboxylic acid concentration	5551	PRF1	OMIM:603553
HP:0010995	Abnormal circulating dicarboxylic acid concentration	1376	CPT2	OMIM:608836
HP:0010995	Abnormal circulating dicarboxylic acid concentration	51601	LIPT1	OMIM:616299
HP:0010995	Abnormal circulating dicarboxylic acid concentration	5213	PFKM	OMIM:232800
HP:0010995	Abnormal circulating dicarboxylic acid concentration	11231	SEC63	ORPHA:2924
HP:0010995	Abnormal circulating dicarboxylic acid concentration	5589	PRKCSH	ORPHA:2924
HP:0010995	Abnormal circulating dicarboxylic acid concentration	5589	PRKCSH	OMIM:174050
HP:0010995	Abnormal circulating dicarboxylic acid concentration	4041	LRP5	ORPHA:2924
HP:0010995	Abnormal circulating dicarboxylic acid concentration	51473	DCDC2	ORPHA:84081
HP:0010995	Abnormal circulating dicarboxylic acid concentration	91147	TMEM67	ORPHA:84081
HP:0010995	Abnormal circulating dicarboxylic acid concentration	5313	PKLR	OMIM:266200
HP:0010995	Abnormal circulating dicarboxylic acid concentration	5313	PKLR	ORPHA:766
HP:0010995	Abnormal circulating dicarboxylic acid concentration	3043	HBB	ORPHA:232
HP:0010995	Abnormal circulating dicarboxylic acid concentration	55532	SLC30A10	OMIM:613280
HP:0010995	Abnormal circulating dicarboxylic acid concentration	6554	SLC10A1	OMIM:619256
HP:0010995	Abnormal circulating dicarboxylic acid concentration	374354	NHLRC2	OMIM:618278
HP:0010995	Abnormal circulating dicarboxylic acid concentration	8573	CASK	OMIM:300908
HP:0010995	Abnormal circulating dicarboxylic acid concentration	2539	G6PD	OMIM:300908
HP:0010995	Abnormal circulating dicarboxylic acid concentration	7080	NKX2-1	ORPHA:95713
HP:0010995	Abnormal circulating dicarboxylic acid concentration	1482	NKX2-5	ORPHA:95713
HP:0010995	Abnormal circulating dicarboxylic acid concentration	2304	FOXE1	ORPHA:95713
HP:0010995	Abnormal circulating dicarboxylic acid concentration	5172	SLC26A4	ORPHA:95713
HP:0010995	Abnormal circulating dicarboxylic acid concentration	10056	FARSB	OMIM:613658
HP:0010995	Abnormal circulating dicarboxylic acid concentration	7390	UROS	ORPHA:79277
HP:0010995	Abnormal circulating dicarboxylic acid concentration	8085	KMT2D	OMIM:620186
HP:0010995	Abnormal circulating dicarboxylic acid concentration	5277	PIGA	ORPHA:447
HP:0010995	Abnormal circulating dicarboxylic acid concentration	2222	FDFT1	OMIM:618156
HP:0010995	Abnormal circulating dicarboxylic acid concentration	7385	UQCRC2	OMIM:615160
HP:0010995	Abnormal circulating dicarboxylic acid concentration	8482	SEMA7A	OMIM:619874
HP:0010995	Abnormal circulating dicarboxylic acid concentration	501	ALDH7A1	OMIM:266100
HP:0010995	Abnormal circulating dicarboxylic acid concentration	644	BLVRA	OMIM:614156
HP:0010995	Abnormal circulating dicarboxylic acid concentration	3418	IDH2	OMIM:613657
HP:0010995	Abnormal circulating dicarboxylic acid concentration	79944	L2HGDH	OMIM:236792
HP:0010996	Abnormal circulating monocarboxylic acid concentration	1497	CTNS	OMIM:219800
HP:0010996	Abnormal circulating monocarboxylic acid concentration	1738	DLD	ORPHA:2394
HP:0010996	Abnormal circulating monocarboxylic acid concentration	3155	HMGCL	OMIM:246450
HP:0010996	Abnormal circulating monocarboxylic acid concentration	4556	MT-TE	ORPHA:254864
HP:0010996	Abnormal circulating monocarboxylic acid concentration	55687	TRMU	ORPHA:254864
HP:0010996	Abnormal circulating monocarboxylic acid concentration	37	ACADVL	OMIM:201475
HP:0010996	Abnormal circulating monocarboxylic acid concentration	4695	NDUFA2	OMIM:618235
HP:0010996	Abnormal circulating monocarboxylic acid concentration	34	ACADM	OMIM:201450
HP:0010996	Abnormal circulating monocarboxylic acid concentration	1294	COL7A1	ORPHA:89842
HP:0010996	Abnormal circulating monocarboxylic acid concentration	27034	ACAD8	OMIM:611283
HP:0010996	Abnormal circulating monocarboxylic acid concentration	27034	ACAD8	ORPHA:79159
HP:0010996	Abnormal circulating monocarboxylic acid concentration	28976	ACAD9	ORPHA:99901
HP:0010996	Abnormal circulating monocarboxylic acid concentration	64087	MCCC2	OMIM:210210
HP:0010996	Abnormal circulating monocarboxylic acid concentration	788	SLC25A20	ORPHA:159
HP:0010996	Abnormal circulating monocarboxylic acid concentration	1962	EHHADH	ORPHA:3337
HP:0010996	Abnormal circulating monocarboxylic acid concentration	2628	GATM	ORPHA:3337
HP:0010996	Abnormal circulating monocarboxylic acid concentration	137682	NDUFAF6	ORPHA:3337
HP:0010996	Abnormal circulating monocarboxylic acid concentration	6569	SLC34A1	ORPHA:3337
HP:0010996	Abnormal circulating monocarboxylic acid concentration	6584	SLC22A5	OMIM:212140
HP:0010996	Abnormal circulating monocarboxylic acid concentration	9131	AIFM1	ORPHA:238329
HP:0010996	Abnormal circulating monocarboxylic acid concentration	4358	MPV17	OMIM:256810
HP:0010996	Abnormal circulating monocarboxylic acid concentration	54539	NDUFB11	ORPHA:2609
HP:0010996	Abnormal circulating monocarboxylic acid concentration	25915	NDUFAF3	ORPHA:2609
HP:0010996	Abnormal circulating monocarboxylic acid concentration	51103	NDUFAF1	ORPHA:2609
HP:0010996	Abnormal circulating monocarboxylic acid concentration	91942	NDUFAF2	ORPHA:2609
HP:0010996	Abnormal circulating monocarboxylic acid concentration	51300	TIMMDC1	ORPHA:2609
HP:0010996	Abnormal circulating monocarboxylic acid concentration	4716	NDUFB10	ORPHA:2609
HP:0010996	Abnormal circulating monocarboxylic acid concentration	4723	NDUFV1	ORPHA:2609
HP:0010996	Abnormal circulating monocarboxylic acid concentration	55572	FOXRED1	ORPHA:2609
HP:0010996	Abnormal circulating monocarboxylic acid concentration	284184	NDUFAF8	ORPHA:2609
HP:0010996	Abnormal circulating monocarboxylic acid concentration	55863	TMEM126B	ORPHA:2609
HP:0010996	Abnormal circulating monocarboxylic acid concentration	4535	MT-ND1	ORPHA:2609
HP:0010996	Abnormal circulating monocarboxylic acid concentration	4537	MT-ND3	ORPHA:2609
HP:0010996	Abnormal circulating monocarboxylic acid concentration	4729	NDUFV2	ORPHA:2609
HP:0010996	Abnormal circulating monocarboxylic acid concentration	4694	NDUFA1	ORPHA:2609
HP:0010996	Abnormal circulating monocarboxylic acid concentration	4720	NDUFS2	ORPHA:2609
HP:0010996	Abnormal circulating monocarboxylic acid concentration	4724	NDUFS4	ORPHA:2609
HP:0010996	Abnormal circulating monocarboxylic acid concentration	4726	NDUFS6	ORPHA:2609
HP:0010996	Abnormal circulating monocarboxylic acid concentration	4728	NDUFS8	ORPHA:2609
HP:0010996	Abnormal circulating monocarboxylic acid concentration	4722	NDUFS3	ORPHA:2609
HP:0010996	Abnormal circulating monocarboxylic acid concentration	79133	NDUFAF5	ORPHA:2609
HP:0010996	Abnormal circulating monocarboxylic acid concentration	126328	NDUFA11	ORPHA:2609
HP:0010996	Abnormal circulating monocarboxylic acid concentration	4709	NDUFB3	ORPHA:2609
HP:0010996	Abnormal circulating monocarboxylic acid concentration	80224	NUBPL	ORPHA:2609
HP:0010996	Abnormal circulating monocarboxylic acid concentration	29078	NDUFAF4	ORPHA:2609
HP:0010996	Abnormal circulating monocarboxylic acid concentration	374291	NDUFS7	ORPHA:2609
HP:0010996	Abnormal circulating monocarboxylic acid concentration	4700	NDUFA6	ORPHA:2609
HP:0010996	Abnormal circulating monocarboxylic acid concentration	4536	MT-ND2	ORPHA:2609
HP:0010996	Abnormal circulating monocarboxylic acid concentration	4719	NDUFS1	ORPHA:2609
HP:0010996	Abnormal circulating monocarboxylic acid concentration	4715	NDUFB9	ORPHA:2609
HP:0010996	Abnormal circulating monocarboxylic acid concentration	9361	LONP1	ORPHA:79243
HP:0010996	Abnormal circulating monocarboxylic acid concentration	5160	PDHA1	ORPHA:79243
HP:0010996	Abnormal circulating monocarboxylic acid concentration	4566	MT-TK	ORPHA:1349
HP:0010996	Abnormal circulating monocarboxylic acid concentration	4204	MECP2	ORPHA:778
HP:0010996	Abnormal circulating monocarboxylic acid concentration	5428	POLG	ORPHA:94125
HP:0010996	Abnormal circulating monocarboxylic acid concentration	6341	SCO1	OMIM:619048
HP:0010996	Abnormal circulating monocarboxylic acid concentration	133686	NADK2	ORPHA:431361
HP:0010996	Abnormal circulating monocarboxylic acid concentration	4312	MMP1	ORPHA:79408
HP:0010996	Abnormal circulating monocarboxylic acid concentration	283209	PGM2L1	OMIM:620191
HP:0010996	Abnormal circulating monocarboxylic acid concentration	3033	HADH	ORPHA:71212
HP:0010996	Abnormal circulating monocarboxylic acid concentration	84033	OBSCN	OMIM:620235
HP:0010996	Abnormal circulating monocarboxylic acid concentration	84896	ATAD1	OMIM:618011
HP:0010996	Abnormal circulating monocarboxylic acid concentration	9414	TJP2	OMIM:607748
HP:0010996	Abnormal circulating monocarboxylic acid concentration	5205	ATP8B1	OMIM:243300
HP:0010996	Abnormal circulating monocarboxylic acid concentration	5205	ATP8B1	ORPHA:69665
HP:0010996	Abnormal circulating monocarboxylic acid concentration	10165	SLC25A13	OMIM:605814
HP:0010996	Abnormal circulating monocarboxylic acid concentration	6888	TALDO1	ORPHA:101028
HP:0010996	Abnormal circulating monocarboxylic acid concentration	5244	ABCB4	OMIM:602347
HP:0010996	Abnormal circulating monocarboxylic acid concentration	5244	ABCB4	ORPHA:69665
HP:0010996	Abnormal circulating monocarboxylic acid concentration	6554	SLC10A1	OMIM:619256
HP:0010996	Abnormal circulating monocarboxylic acid concentration	55610	VPS50	OMIM:619685
HP:0010996	Abnormal circulating monocarboxylic acid concentration	55898	UNC45A	OMIM:619377
HP:0010996	Abnormal circulating monocarboxylic acid concentration	6514	SLC2A2	OMIM:227810
HP:0010996	Abnormal circulating monocarboxylic acid concentration	57003	CCDC47	OMIM:618268
HP:0010996	Abnormal circulating monocarboxylic acid concentration	8482	SEMA7A	OMIM:619874
HP:0010996	Abnormal circulating monocarboxylic acid concentration	162	AP1B1	OMIM:242150
HP:0010996	Abnormal circulating monocarboxylic acid concentration	5825	ABCD3	OMIM:616278
HP:0010996	Abnormal circulating monocarboxylic acid concentration	8647	ABCB11	ORPHA:69665
HP:0010996	Abnormal circulating monocarboxylic acid concentration	9971	NR1H4	ORPHA:69665
HP:0010996	Abnormal circulating monocarboxylic acid concentration	113220	KIF12	OMIM:619662
HP:0010996	Abnormal circulating monocarboxylic acid concentration	4645	MYO5B	OMIM:619868
HP:0010996	Abnormal circulating monocarboxylic acid concentration	26276	VPS33B	OMIM:620010
HP:0010996	Abnormal circulating monocarboxylic acid concentration	199221	DZIP1L	ORPHA:731
HP:0010996	Abnormal circulating monocarboxylic acid concentration	5314	PKHD1	ORPHA:731
HP:0010996	Abnormal circulating monocarboxylic acid concentration	134218	DNAJC21	ORPHA:811
HP:0010996	Abnormal circulating monocarboxylic acid concentration	79631	EFL1	ORPHA:811
HP:0010996	Abnormal circulating monocarboxylic acid concentration	51119	SBDS	ORPHA:811
HP:0010996	Abnormal circulating monocarboxylic acid concentration	6718	AKR1D1	ORPHA:79303
HP:0010996	Abnormal circulating monocarboxylic acid concentration	23600	AMACR	OMIM:214950
HP:0010996	Abnormal circulating monocarboxylic acid concentration	25974	MMACHC	ORPHA:79282
HP:0010996	Abnormal circulating monocarboxylic acid concentration	84693	MCEE	OMIM:251120
HP:0010996	Abnormal circulating monocarboxylic acid concentration	27247	NFU1	OMIM:605711
HP:0010996	Abnormal circulating monocarboxylic acid concentration	2639	GCDH	OMIM:231670
HP:0010996	Abnormal circulating monocarboxylic acid concentration	55788	LMBRD1	OMIM:277380
HP:0010996	Abnormal circulating monocarboxylic acid concentration	5826	ABCD4	OMIM:614857
HP:0010996	Abnormal circulating monocarboxylic acid concentration	326625	MMAB	OMIM:251110
HP:0010996	Abnormal circulating monocarboxylic acid concentration	23474	ETHE1	OMIM:602473
HP:0010996	Abnormal circulating monocarboxylic acid concentration	3712	IVD	ORPHA:33
HP:0010996	Abnormal circulating monocarboxylic acid concentration	51241	COX16	OMIM:619355
HP:0010996	Abnormal circulating monocarboxylic acid concentration	123264	SLC51B	OMIM:619481
HP:0010996	Abnormal circulating monocarboxylic acid concentration	55670	PEX26	OMIM:614872
HP:0010996	Abnormal circulating monocarboxylic acid concentration	10059	DNM1L	OMIM:614388
HP:0010996	Abnormal circulating monocarboxylic acid concentration	35	ACADS	ORPHA:26792
HP:0010996	Abnormal circulating monocarboxylic acid concentration	55065	SLC52A1	OMIM:615026
HP:0010996	Abnormal circulating monocarboxylic acid concentration	128989	TANGO2	OMIM:616878
HP:0010996	Abnormal circulating monocarboxylic acid concentration	128989	TANGO2	ORPHA:480864
HP:0010996	Abnormal circulating monocarboxylic acid concentration	1376	CPT2	ORPHA:228302
HP:0010996	Abnormal circulating monocarboxylic acid concentration	1376	CPT2	ORPHA:228305
HP:0010996	Abnormal circulating monocarboxylic acid concentration	1376	CPT2	ORPHA:228308
HP:0010996	Abnormal circulating monocarboxylic acid concentration	90624	LYRM7	OMIM:615838
HP:0010996	Abnormal circulating monocarboxylic acid concentration	3030	HADHA	OMIM:609015
HP:0010996	Abnormal circulating monocarboxylic acid concentration	501	ALDH7A1	OMIM:266100
HP:0010996	Abnormal circulating monocarboxylic acid concentration	7915	ALDH5A1	OMIM:271980
HP:0010996	Abnormal circulating monocarboxylic acid concentration	8659	ALDH4A1	OMIM:239510
HP:0010996	Abnormal circulating monocarboxylic acid concentration	51733	UPB1	OMIM:613161
HP:0010997	Chromosomal breakage induced by ionizing radiation	10111	RAD50	OMIM:613078
HP:0010997	Chromosomal breakage induced by ionizing radiation	8314	BAP1	ORPHA:2495
HP:0010997	Chromosomal breakage induced by ionizing radiation	4771	NF2	ORPHA:2495
HP:0010997	Chromosomal breakage induced by ionizing radiation	6598	SMARCB1	ORPHA:2495
HP:0010997	Chromosomal breakage induced by ionizing radiation	5155	PDGFB	ORPHA:2495
HP:0010997	Chromosomal breakage induced by ionizing radiation	84231	TRAF7	ORPHA:2495
HP:0010997	Chromosomal breakage induced by ionizing radiation	6608	SMO	ORPHA:2495
HP:0010997	Chromosomal breakage induced by ionizing radiation	207	AKT1	ORPHA:2495
HP:0010997	Chromosomal breakage induced by ionizing radiation	5290	PIK3CA	ORPHA:2495
HP:0010997	Chromosomal breakage induced by ionizing radiation	7015	TERT	ORPHA:2495
HP:0010997	Chromosomal breakage induced by ionizing radiation	51684	SUFU	ORPHA:2495
HP:0010997	Chromosomal breakage induced by ionizing radiation	6605	SMARCE1	ORPHA:2495
HP:0010997	Chromosomal breakage induced by ionizing radiation	165918	RNF168	ORPHA:420741
HP:0010998	Increased susceptibility to spontaneous sister chromatid exchange	7156	TOP3A	OMIM:618097
HP:0007099	Chiari type I malformation	2077	ERF	OMIM:600775
HP:0007099	Chiari type I malformation	5251	PHEX	ORPHA:89936
HP:0007099	Chiari type I malformation	5977	DPF2	OMIM:618027
HP:0007099	Chiari type I malformation	6608	SMO	OMIM:601707
HP:0007099	Chiari type I malformation	6608	SMO	OMIM:241800
HP:0007099	Chiari type I malformation	63895	PIEZO2	OMIM:114300
HP:0007099	Chiari type I malformation	1788	DNMT3A	OMIM:615879
HP:0007099	Chiari type I malformation	148867	SLC30A7	OMIM:620501
HP:0007099	Chiari type I malformation	4774	NFIA	OMIM:613735
HP:0007099	Chiari type I malformation	4774	NFIA	ORPHA:401986
HP:0007099	Chiari type I malformation	80036	TRPM3	OMIM:620224
HP:0007099	Chiari type I malformation	3845	KRAS	OMIM:609942
HP:0007099	Chiari type I malformation	10283	CWC27	ORPHA:166035
HP:0007099	Chiari type I malformation	9839	ZEB2	ORPHA:261537
HP:0007099	Chiari type I malformation	9839	ZEB2	ORPHA:261552
HP:0007099	Chiari type I malformation	284058	KANSL1	ORPHA:363965
HP:0007099	Chiari type I malformation	284058	KANSL1	ORPHA:363958
HP:0007099	Chiari type I malformation	4094	MAF	ORPHA:1272
HP:0007099	Chiari type I malformation	4094	MAF	OMIM:601088
HP:0007099	Chiari type I malformation	1436	CSF1R	OMIM:618476
HP:0007099	Chiari type I malformation	4854	NOTCH3	OMIM:130720
HP:0007099	Chiari type I malformation	3020	H3-3A	OMIM:619720
HP:0007099	Chiari type I malformation	8318	CDC45	OMIM:617063
HP:0007099	Chiari type I malformation	5500	PPP1CB	OMIM:617506
HP:0007099	Chiari type I malformation	2033	EP300	ORPHA:353284
HP:0007099	Chiari type I malformation	9772	TMEM94	OMIM:618316
HP:0007099	Chiari type I malformation	29072	SETD2	OMIM:620157
HP:0007099	Chiari type I malformation	29072	SETD2	OMIM:620155
HP:0007099	Chiari type I malformation	23516	SLC39A14	OMIM:144755
HP:0007099	Chiari type I malformation	2006	ELN	OMIM:194050
HP:0007099	Chiari type I malformation	51085	MLXIPL	OMIM:194050
HP:0007099	Chiari type I malformation	11128	POLR3A	ORPHA:3455
HP:0007099	Chiari type I malformation	6497	SKI	OMIM:182212
HP:0007099	Chiari type I malformation	4841	NONO	ORPHA:466791
HP:0007099	Chiari type I malformation	57551	TAOK1	OMIM:619575
HP:0007099	Chiari type I malformation	10274	STAG1	OMIM:617635
HP:0007099	Chiari type I malformation	4791	NFKB2	OMIM:615577
HP:0007099	Chiari type I malformation	6774	STAT3	ORPHA:2314
HP:0007099	Chiari type I malformation	22943	DKK1	ORPHA:268882
HP:0007099	Chiari type I malformation	1387	CREBBP	ORPHA:353277
HP:0007099	Chiari type I malformation	79947	DHDDS	OMIM:617836
HP:0007099	Chiari type I malformation	8799	PEX11B	OMIM:614920
HP:0007099	Chiari type I malformation	11145	PLAAT3	OMIM:620683
HP:0007099	Chiari type I malformation	5076	PAX2	OMIM:120330
HP:0007099	Chiari type I malformation	1717	DHCR7	OMIM:270400
HP:0007099	Chiari type I malformation	25970	SH2B1	ORPHA:261197
HP:0007099	Chiari type I malformation	55703	POLR3B	OMIM:619742
HP:0007099	Chiari type I malformation	5888	RAD51	OMIM:617244
HP:0007099	Chiari type I malformation	4858	NOVA2	OMIM:618859
HP:0007099	Chiari type I malformation	27133	KCNH5	OMIM:620537
HP:0007099	Chiari type I malformation	161742	SPRED1	ORPHA:137605
HP:0007099	Chiari type I malformation	3265	HRAS	OMIM:218040
HP:0007099	Chiari type I malformation	26040	SETBP1	ORPHA:798
HP:0007099	Chiari type I malformation	2263	FGFR2	OMIM:101200
HP:0007099	Chiari type I malformation	8085	KMT2D	OMIM:147920
HP:0007099	Chiari type I malformation	7403	KDM6A	OMIM:147920
HP:0100543	Cognitive impairment	5274	SERPINI1	OMIM:604218
HP:0100543	Cognitive impairment	4693	NDP	OMIM:310600
HP:0100543	Cognitive impairment	154881	KCTD7	ORPHA:263516
HP:0100543	Cognitive impairment	3073	HEXA	OMIM:272800
HP:0100543	Cognitive impairment	3664	IRF6	OMIM:119500
HP:0100543	Cognitive impairment	54476	RNF216	OMIM:212840
HP:0100543	Cognitive impairment	54476	RNF216	ORPHA:1173
HP:0100543	Cognitive impairment	1890	TYMP	ORPHA:298
HP:0100543	Cognitive impairment	1890	TYMP	OMIM:603041
HP:0100543	Cognitive impairment	4519	MT-CYB	OMIM:540000
HP:0100543	Cognitive impairment	4511	MT-TC	OMIM:540000
HP:0100543	Cognitive impairment	4577	MT-TV	OMIM:540000
HP:0100543	Cognitive impairment	4508	MT-ATP6	OMIM:551500
HP:0100543	Cognitive impairment	4508	MT-ATP6	ORPHA:644
HP:0100543	Cognitive impairment	10715	CERS1	OMIM:616230
HP:0100543	Cognitive impairment	9445	ITM2B	OMIM:117300
HP:0100543	Cognitive impairment	9445	ITM2B	OMIM:176500
HP:0100543	Cognitive impairment	10908	PNPLA6	ORPHA:1173
HP:0100543	Cognitive impairment	1201	CLN3	OMIM:204200
HP:0100543	Cognitive impairment	1471	CST3	OMIM:105150
HP:0100543	Cognitive impairment	493856	CISD2	ORPHA:3463
HP:0100543	Cognitive impairment	7466	WFS1	ORPHA:3463
HP:0100543	Cognitive impairment	7466	WFS1	ORPHA:411590
HP:0100543	Cognitive impairment	4311	MME	ORPHA:497764
HP:0100543	Cognitive impairment	4311	MME	OMIM:617017
HP:0100543	Cognitive impairment	540	ATP7B	OMIM:277900
HP:0100543	Cognitive impairment	644096	SDHAF1	ORPHA:3208
HP:0100543	Cognitive impairment	10229	COQ7	OMIM:620402
HP:0100543	Cognitive impairment	4556	MT-TE	ORPHA:2596
HP:0100543	Cognitive impairment	80331	DNAJC5	OMIM:162350
HP:0100543	Cognitive impairment	51142	CHCHD2	OMIM:616710
HP:0100543	Cognitive impairment	7080	NKX2-1	OMIM:118700
HP:0100543	Cognitive impairment	4353	MPO	OMIM:104300
HP:0100543	Cognitive impairment	4846	NOS3	OMIM:104300
HP:0100543	Cognitive impairment	5328	PLAU	OMIM:104300
HP:0100543	Cognitive impairment	144165	PRICKLE1	ORPHA:308
HP:0100543	Cognitive impairment	25814	ATXN10	OMIM:603516
HP:0100543	Cognitive impairment	57505	AARS2	OMIM:615889
HP:0100543	Cognitive impairment	54822	TRPM7	OMIM:105500
HP:0100543	Cognitive impairment	4694	NDUFA1	OMIM:301020
HP:0100543	Cognitive impairment	51704	GPRC5B	OMIM:620447
HP:0100543	Cognitive impairment	116442	RAB39B	OMIM:311510
HP:0100543	Cognitive impairment	1737	DLAT	ORPHA:79244
HP:0100543	Cognitive impairment	4864	NPC1	OMIM:257220
HP:0100543	Cognitive impairment	10382	TUBB4A	ORPHA:98805
HP:0100543	Cognitive impairment	203228	C9orf72	OMIM:105550
HP:0100543	Cognitive impairment	219285	SAMD9L	OMIM:619806
HP:0100543	Cognitive impairment	6620	SNCB	OMIM:127750
HP:0100543	Cognitive impairment	10577	NPC2	OMIM:607625
HP:0100543	Cognitive impairment	23545	ATP6V0A2	ORPHA:357074
HP:0100543	Cognitive impairment	529	ATP6V1E1	ORPHA:357074
HP:0100543	Cognitive impairment	126129	CPT1C	ORPHA:444099
HP:0100543	Cognitive impairment	80217	CFAP43	OMIM:236690
HP:0100543	Cognitive impairment	126	ADH1C	OMIM:168600
HP:0100543	Cognitive impairment	4576	MT-TT	OMIM:168600
HP:0100543	Cognitive impairment	9627	SNCAIP	OMIM:168600
HP:0100543	Cognitive impairment	4929	NR4A2	OMIM:168600
HP:0100543	Cognitive impairment	6315	ATXN8OS	OMIM:168600
HP:0100543	Cognitive impairment	3479	IGF1	ORPHA:73272
HP:0100543	Cognitive impairment	3479	IGF1	OMIM:608747
HP:0100543	Cognitive impairment	23345	SYNE1	ORPHA:88644
HP:0100543	Cognitive impairment	54517	PUS7	OMIM:618342
HP:0100543	Cognitive impairment	79048	SECISBP2	ORPHA:171706
HP:0100543	Cognitive impairment	10847	SRCAP	ORPHA:2044
HP:0100543	Cognitive impairment	134218	DNAJC21	ORPHA:811
HP:0100543	Cognitive impairment	79631	EFL1	ORPHA:811
HP:0100543	Cognitive impairment	51119	SBDS	ORPHA:811
HP:0100543	Cognitive impairment	7337	UBE3A	ORPHA:98794
HP:0100543	Cognitive impairment	7337	UBE3A	ORPHA:411515
HP:0100543	Cognitive impairment	4948	OCA2	ORPHA:98794
HP:0100543	Cognitive impairment	55777	MBD5	OMIM:156200
HP:0100543	Cognitive impairment	57551	TAOK1	OMIM:619575
HP:0100543	Cognitive impairment	54496	PRMT7	OMIM:617157
HP:0100543	Cognitive impairment	9739	SETD1A	OMIM:619056
HP:0100543	Cognitive impairment	80204	FBXO11	OMIM:618089
HP:0100543	Cognitive impairment	10381	TUBB3	ORPHA:300570
HP:0100543	Cognitive impairment	2898	GRIK2	OMIM:619580
HP:0100543	Cognitive impairment	191	AHCY	ORPHA:88618
HP:0100543	Cognitive impairment	1760	DMPK	ORPHA:589821
HP:0100543	Cognitive impairment	8802	SUCLG1	ORPHA:17
HP:0100543	Cognitive impairment	5813	PURA	ORPHA:438216
HP:0100543	Cognitive impairment	6304	SATB1	OMIM:619229
HP:0100543	Cognitive impairment	26834	RNU4-2	OMIM:620851
HP:0100543	Cognitive impairment	3981	LIG4	ORPHA:235
HP:0100543	Cognitive impairment	54888	NSUN2	ORPHA:235
HP:0100543	Cognitive impairment	339983	NAT8L	OMIM:614063
HP:0100543	Cognitive impairment	57680	CHD8	OMIM:615032
HP:0100543	Cognitive impairment	54914	FOCAD	OMIM:619991
HP:0100543	Cognitive impairment	5063	PAK3	OMIM:300558
HP:0100543	Cognitive impairment	27286	SRPX2	ORPHA:163721
HP:0100543	Cognitive impairment	27286	SRPX2	ORPHA:1945
HP:0100543	Cognitive impairment	391356	PTRHD1	OMIM:620747
HP:0100543	Cognitive impairment	93986	FOXP2	ORPHA:251061
HP:0100543	Cognitive impairment	26576	SRPK3	OMIM:301134
HP:0100543	Cognitive impairment	27086	FOXP1	ORPHA:391372
HP:0100543	Cognitive impairment	28514	DLL1	ORPHA:280195
HP:0100543	Cognitive impairment	2253	FGF8	ORPHA:280195
HP:0100543	Cognitive impairment	6496	SIX3	ORPHA:280195
HP:0100543	Cognitive impairment	7050	TGIF1	ORPHA:280195
HP:0100543	Cognitive impairment	4838	NODAL	ORPHA:280195
HP:0100543	Cognitive impairment	6469	SHH	ORPHA:280195
HP:0100543	Cognitive impairment	7546	ZIC2	ORPHA:280195
HP:0100543	Cognitive impairment	6491	STIL	ORPHA:280195
HP:0100543	Cognitive impairment	2619	GAS1	ORPHA:280195
HP:0100543	Cognitive impairment	84976	DISP1	ORPHA:280195
HP:0100543	Cognitive impairment	2736	GLI2	ORPHA:280195
HP:0100543	Cognitive impairment	8928	FOXH1	ORPHA:280195
HP:0100543	Cognitive impairment	6997	CRIPTO	ORPHA:280195
HP:0100543	Cognitive impairment	5727	PTCH1	ORPHA:280195
HP:0100543	Cognitive impairment	50937	CDON	ORPHA:280195
HP:0100543	Cognitive impairment	2893	GRIA4	OMIM:617864
HP:0100543	Cognitive impairment	54862	CC2D1A	OMIM:608443
HP:0100543	Cognitive impairment	2006	ELN	OMIM:194050
HP:0100543	Cognitive impairment	51085	MLXIPL	OMIM:194050
HP:0100543	Cognitive impairment	7030	TFE3	OMIM:301066
HP:0100543	Cognitive impairment	55084	SOBP	OMIM:613671
HP:0100543	Cognitive impairment	10079	ATP9A	OMIM:620242
HP:0100543	Cognitive impairment	4914	NTRK1	ORPHA:642
HP:0100543	Cognitive impairment	6595	SMARCA2	OMIM:601358
HP:0100543	Cognitive impairment	23309	SIN3B	ORPHA:500166
HP:0100543	Cognitive impairment	25942	SIN3A	ORPHA:500166
HP:0100543	Cognitive impairment	84274	COQ5	OMIM:619028
HP:0100543	Cognitive impairment	867	CBL	OMIM:613563
HP:0100543	Cognitive impairment	4281	MID1	ORPHA:2745
HP:0100543	Cognitive impairment	6638	SNRPN	ORPHA:411515
HP:0100543	Cognitive impairment	57194	ATP10A	ORPHA:411515
HP:0100543	Cognitive impairment	3064	HTT	ORPHA:399
HP:0100543	Cognitive impairment	6515	SLC2A3	ORPHA:399
HP:0100543	Cognitive impairment	51728	POLR3K	OMIM:619310
HP:0100543	Cognitive impairment	23446	SLC44A1	OMIM:618868
HP:0100543	Cognitive impairment	2495	FTH1	OMIM:620669
HP:0100543	Cognitive impairment	1786	DNMT1	ORPHA:314404
HP:0100543	Cognitive impairment	2896	GRN	OMIM:614706
HP:0100543	Cognitive impairment	2896	GRN	ORPHA:275864
HP:0100543	Cognitive impairment	2896	GRN	ORPHA:100070
HP:0100543	Cognitive impairment	5604	MAP2K1	ORPHA:389
HP:0100543	Cognitive impairment	4893	NRAS	ORPHA:389
HP:0100543	Cognitive impairment	4893	NRAS	OMIM:249400
HP:0100543	Cognitive impairment	5660	PSAP	OMIM:249900
HP:0100543	Cognitive impairment	5660	PSAP	ORPHA:206436
HP:0100543	Cognitive impairment	2581	GALC	ORPHA:206443
HP:0100543	Cognitive impairment	2581	GALC	ORPHA:206448
HP:0100543	Cognitive impairment	2581	GALC	ORPHA:206436
HP:0100543	Cognitive impairment	351	APP	ORPHA:324713
HP:0100543	Cognitive impairment	351	APP	ORPHA:100006
HP:0100543	Cognitive impairment	8722	CTSF	OMIM:615362
HP:0100543	Cognitive impairment	4137	MAPT	ORPHA:240085
HP:0100543	Cognitive impairment	4137	MAPT	ORPHA:240071
HP:0100543	Cognitive impairment	4137	MAPT	ORPHA:240112
HP:0100543	Cognitive impairment	4137	MAPT	ORPHA:240103
HP:0100543	Cognitive impairment	4137	MAPT	ORPHA:275864
HP:0100543	Cognitive impairment	4137	MAPT	ORPHA:100070
HP:0100543	Cognitive impairment	54982	CLN6	OMIM:204300
HP:0100543	Cognitive impairment	50940	PDE11A	OMIM:610475
HP:0100543	Cognitive impairment	23600	AMACR	ORPHA:79095
HP:0100543	Cognitive impairment	1476	CSTB	OMIM:254800
HP:0100543	Cognitive impairment	5053	PAH	ORPHA:79254
HP:0100543	Cognitive impairment	6314	ATXN7	OMIM:164500
HP:0100543	Cognitive impairment	6314	ATXN7	ORPHA:94147
HP:0100543	Cognitive impairment	2592	GALT	ORPHA:79239
HP:0100543	Cognitive impairment	1340	COX6B1	OMIM:619051
HP:0100543	Cognitive impairment	51360	MBTPS2	ORPHA:2273
HP:0100543	Cognitive impairment	7343	UBTF	OMIM:617672
HP:0100543	Cognitive impairment	3746	KCNC1	OMIM:616187
HP:0100543	Cognitive impairment	54834	GDAP2	OMIM:618369
HP:0100543	Cognitive impairment	2629	GBA1	ORPHA:411602
HP:0100543	Cognitive impairment	23317	DNAJC13	ORPHA:411602
HP:0100543	Cognitive impairment	1981	EIF4G1	ORPHA:411602
HP:0100543	Cognitive impairment	55737	VPS35	ORPHA:411602
HP:0100543	Cognitive impairment	26058	GIGYF2	ORPHA:411602
HP:0100543	Cognitive impairment	6575	SLC20A2	OMIM:213600
HP:0100543	Cognitive impairment	5159	PDGFRB	OMIM:213600
HP:0100543	Cognitive impairment	5573	PRKAR1A	OMIM:610489
HP:0100543	Cognitive impairment	1509	CTSD	OMIM:610127
HP:0100543	Cognitive impairment	8398	PLA2G6	ORPHA:35069
HP:0100543	Cognitive impairment	8398	PLA2G6	OMIM:612953
HP:0100543	Cognitive impairment	8398	PLA2G6	OMIM:610217
HP:0100543	Cognitive impairment	9570	GOSR2	OMIM:620166
HP:0100543	Cognitive impairment	55750	AGK	OMIM:212350
HP:0100543	Cognitive impairment	60	ACTB	ORPHA:79107
HP:0100543	Cognitive impairment	1678	TIMM8A	OMIM:304700
HP:0100543	Cognitive impairment	1678	TIMM8A	ORPHA:52368
HP:0100543	Cognitive impairment	7274	TTPA	ORPHA:96
HP:0100543	Cognitive impairment	51324	SPG21	ORPHA:101001
HP:0100543	Cognitive impairment	2332	FMR1	OMIM:300623
HP:0100543	Cognitive impairment	1759	DNM1	ORPHA:2382
HP:0100543	Cognitive impairment	1759	DNM1	ORPHA:442835
HP:0100543	Cognitive impairment	2562	GABRB3	ORPHA:2382
HP:0100543	Cognitive impairment	5602	MAPK10	ORPHA:2382
HP:0100543	Cognitive impairment	773	CACNA1A	ORPHA:2382
HP:0100543	Cognitive impairment	773	CACNA1A	ORPHA:442835
HP:0100543	Cognitive impairment	23316	CUX2	ORPHA:2382
HP:0100543	Cognitive impairment	1106	CHD2	ORPHA:2382
HP:0100543	Cognitive impairment	83636	C19orf12	OMIM:614298
HP:0100543	Cognitive impairment	7098	TLR3	OMIM:613002
HP:0100543	Cognitive impairment	51271	UBAP1	OMIM:618418
HP:0100543	Cognitive impairment	23230	VPS13A	ORPHA:2388
HP:0100543	Cognitive impairment	9256	TSPOAP1	OMIM:620456
HP:0100543	Cognitive impairment	9256	TSPOAP1	OMIM:620453
HP:0100543	Cognitive impairment	3737	KCNA2	ORPHA:442835
HP:0100543	Cognitive impairment	8120	AP3B2	ORPHA:442835
HP:0100543	Cognitive impairment	523	ATP6V1A	ORPHA:442835
HP:0100543	Cognitive impairment	10991	SLC38A3	ORPHA:442835
HP:0100543	Cognitive impairment	51343	FZR1	ORPHA:442835
HP:0100543	Cognitive impairment	3747	KCNC2	ORPHA:442835
HP:0100543	Cognitive impairment	1917	EEF1A2	ORPHA:442835
HP:0100543	Cognitive impairment	23219	FBXO28	ORPHA:442835
HP:0100543	Cognitive impairment	2561	GABRB2	ORPHA:442835
HP:0100543	Cognitive impairment	8831	SYNGAP1	ORPHA:442835
HP:0100543	Cognitive impairment	2558	GABRA5	ORPHA:442835
HP:0100543	Cognitive impairment	2906	GRIN2D	ORPHA:442835
HP:0100543	Cognitive impairment	116150	NUS1	ORPHA:442835
HP:0100543	Cognitive impairment	1213	CLTC	ORPHA:442835
HP:0100543	Cognitive impairment	51741	WWOX	ORPHA:442835
HP:0100543	Cognitive impairment	23334	SZT2	ORPHA:442835
HP:0100543	Cognitive impairment	25977	NECAP1	ORPHA:442835
HP:0100543	Cognitive impairment	23241	PACS2	ORPHA:442835
HP:0100543	Cognitive impairment	16	AARS1	ORPHA:442835
HP:0100543	Cognitive impairment	16	AARS1	OMIM:619661
HP:0100543	Cognitive impairment	6334	SCN8A	ORPHA:442835
HP:0100543	Cognitive impairment	9568	GABBR2	ORPHA:442835
HP:0100543	Cognitive impairment	2555	GABRA2	ORPHA:442835
HP:0100543	Cognitive impairment	55152	DALRD3	ORPHA:442835
HP:0100543	Cognitive impairment	26999	CYFIP2	ORPHA:442835
HP:0100543	Cognitive impairment	4915	NTRK2	ORPHA:442835
HP:0100543	Cognitive impairment	25973	PARS2	ORPHA:442835
HP:0100543	Cognitive impairment	23097	CDK19	ORPHA:442835
HP:0100543	Cognitive impairment	2257	FGF12	ORPHA:442835
HP:0100543	Cognitive impairment	5530	PPP3CA	ORPHA:442835
HP:0100543	Cognitive impairment	22906	TRAK1	ORPHA:442835
HP:0100543	Cognitive impairment	7532	YWHAG	ORPHA:442835
HP:0100543	Cognitive impairment	79876	UBA5	ORPHA:442835
HP:0100543	Cognitive impairment	6328	SCN3A	ORPHA:442835
HP:0100543	Cognitive impairment	781	CACNA2D1	ORPHA:442835
HP:0100543	Cognitive impairment	10659	CELF2	ORPHA:442835
HP:0100543	Cognitive impairment	774	CACNA1B	ORPHA:442835
HP:0100543	Cognitive impairment	51412	ACTL6B	ORPHA:442835
HP:0100543	Cognitive impairment	2290	FOXG1	ORPHA:442835
HP:0100543	Cognitive impairment	6506	SLC1A2	ORPHA:442835
HP:0100543	Cognitive impairment	477	ATP1A2	ORPHA:442835
HP:0100543	Cognitive impairment	3745	KCNB1	ORPHA:442835
HP:0100543	Cognitive impairment	284111	SLC13A5	ORPHA:442835
HP:0100543	Cognitive impairment	284111	SLC13A5	ORPHA:1946
HP:0100543	Cognitive impairment	22866	CNKSR2	ORPHA:442835
HP:0100543	Cognitive impairment	79947	DHDDS	ORPHA:442835
HP:0100543	Cognitive impairment	950	SCARB2	OMIM:254900
HP:0100543	Cognitive impairment	220296	HEPACAM	OMIM:613925
HP:0100543	Cognitive impairment	84138	SLC7A6OS	OMIM:619191
HP:0100543	Cognitive impairment	8879	SGPL1	OMIM:617575
HP:0100543	Cognitive impairment	58494	JAM2	OMIM:618824
HP:0100543	Cognitive impairment	2517	FUCA1	OMIM:230000
HP:0100543	Cognitive impairment	9927	MFN2	OMIM:609260
HP:0100543	Cognitive impairment	10846	PDE10A	OMIM:616922
HP:0100543	Cognitive impairment	378884	NHLRC1	ORPHA:501
HP:0100543	Cognitive impairment	7957	EPM2A	ORPHA:501
HP:0100543	Cognitive impairment	26047	CNTNAP2	ORPHA:163681
HP:0100543	Cognitive impairment	57462	MYORG	OMIM:618317
HP:0100543	Cognitive impairment	256471	MFSD8	OMIM:610951
HP:0100543	Cognitive impairment	6908	TBP	ORPHA:98759
HP:0100543	Cognitive impairment	11152	WDR45	OMIM:300894
HP:0100543	Cognitive impairment	427	ASAH1	ORPHA:2590
HP:0100543	Cognitive impairment	25974	MMACHC	ORPHA:79282
HP:0100543	Cognitive impairment	4683	NBN	ORPHA:647
HP:0100543	Cognitive impairment	79641	ROGDI	ORPHA:1946
HP:0100543	Cognitive impairment	6609	SMPD1	OMIM:607616
HP:0100543	Cognitive impairment	3980	LIG3	OMIM:619780
HP:0100543	Cognitive impairment	79587	CARS2	OMIM:616672
HP:0100543	Cognitive impairment	80169	CTC1	OMIM:612199
HP:0100543	Cognitive impairment	5663	PSEN1	ORPHA:275864
HP:0100543	Cognitive impairment	5663	PSEN1	ORPHA:100070
HP:0100543	Cognitive impairment	54664	TMEM106B	ORPHA:275864
HP:0100543	Cognitive impairment	54664	TMEM106B	ORPHA:100070
HP:0100543	Cognitive impairment	10749	KIF1C	OMIM:611302
HP:0100543	Cognitive impairment	410	ARSA	OMIM:250100
HP:0100543	Cognitive impairment	6584	SLC22A5	ORPHA:158
HP:0100543	Cognitive impairment	6584	SLC22A5	OMIM:212140
HP:0100543	Cognitive impairment	8029	CUBN	OMIM:261100
HP:0100543	Cognitive impairment	6261	RYR1	ORPHA:466650
HP:0100543	Cognitive impairment	4125	MAN2B1	ORPHA:309282
HP:0100543	Cognitive impairment	4125	MAN2B1	ORPHA:309288
HP:0100543	Cognitive impairment	3712	IVD	ORPHA:33
HP:0100543	Cognitive impairment	11093	ADAMTS13	OMIM:274150
HP:0100543	Cognitive impairment	10165	SLC25A13	OMIM:603471
HP:0100543	Cognitive impairment	10165	SLC25A13	ORPHA:247585
HP:0100543	Cognitive impairment	3119	HLA-DQB1	OMIM:123400
HP:0100543	Cognitive impairment	7276	TTR	OMIM:105210
HP:0100543	Cognitive impairment	8659	ALDH4A1	ORPHA:79101
HP:0100543	Cognitive impairment	80704	SLC19A3	OMIM:607483
HP:0100543	Cognitive impairment	80704	SLC19A3	ORPHA:263410
HP:0100543	Cognitive impairment	3033	HADH	ORPHA:71212
HP:0100543	Cognitive impairment	11128	POLR3A	ORPHA:3455
HP:0100543	Cognitive impairment	4221	MEN1	ORPHA:652
HP:0100543	Cognitive impairment	1027	CDKN1B	ORPHA:652
HP:0100543	Cognitive impairment	1026	CDKN1A	ORPHA:652
HP:0100543	Cognitive impairment	1030	CDKN2B	ORPHA:652
HP:0100543	Cognitive impairment	1031	CDKN2C	ORPHA:652
HP:0100543	Cognitive impairment	210	ALAD	ORPHA:100924
HP:0100543	Cognitive impairment	10452	TOMM40	ORPHA:1020
HP:0100543	Cognitive impairment	10347	ABCA7	ORPHA:1020
HP:0100543	Cognitive impairment	6653	SORL1	ORPHA:1020
HP:0100543	Cognitive impairment	1371	CPOX	OMIM:121300
HP:0100543	Cognitive impairment	7388	UQCRH	OMIM:620137
HP:0100543	Cognitive impairment	5052	PRDX1	OMIM:277400
HP:0100543	Cognitive impairment	149233	IL23R	ORPHA:117
HP:0100543	Cognitive impairment	3586	IL10	ORPHA:117
HP:0100543	Cognitive impairment	4210	MEFV	ORPHA:117
HP:0100543	Cognitive impairment	1230	CCR1	ORPHA:117
HP:0100543	Cognitive impairment	3592	IL12A	ORPHA:117
HP:0100543	Cognitive impairment	101928376	IL12A-AS1	ORPHA:117
HP:0100543	Cognitive impairment	7099	TLR4	ORPHA:117
HP:0100543	Cognitive impairment	3459	IFNGR1	ORPHA:117
HP:0100543	Cognitive impairment	720	C4A	ORPHA:117
HP:0100543	Cognitive impairment	337867	UBAC2	ORPHA:117
HP:0100543	Cognitive impairment	51752	ERAP1	ORPHA:117
HP:0100543	Cognitive impairment	8302	KLRC4	ORPHA:117
HP:0100543	Cognitive impairment	7277	TUBA4A	OMIM:616208
HP:0100543	Cognitive impairment	55131	RBM28	ORPHA:157954
HP:0100543	Cognitive impairment	55131	RBM28	OMIM:612079
HP:0100543	Cognitive impairment	1203	CLN5	OMIM:256731
HP:0100543	Cognitive impairment	4204	MECP2	OMIM:312750
HP:0100543	Cognitive impairment	138050	HGSNAT	OMIM:252930
HP:0100543	Cognitive impairment	25894	PLEKHG4	ORPHA:98765
HP:0100543	Cognitive impairment	26277	TINF2	OMIM:268130
HP:0100543	Cognitive impairment	64849	SLC13A3	OMIM:618384
HP:0100543	Cognitive impairment	3028	HSD17B10	OMIM:300438
HP:0100543	Cognitive impairment	23516	SLC39A14	OMIM:617013
HP:0100543	Cognitive impairment	100151683	RNU4ATAC	OMIM:210710
HP:0100543	Cognitive impairment	2643	GCH1	OMIM:233910
HP:0100543	Cognitive impairment	6507	SLC1A3	ORPHA:2131
HP:0100543	Cognitive impairment	10128	LRPPRC	ORPHA:70472
HP:0100543	Cognitive impairment	26275	HIBCH	ORPHA:88639
HP:0100543	Cognitive impairment	8893	EIF2B5	OMIM:620315
HP:0100543	Cognitive impairment	5873	RAB27A	OMIM:607624
HP:0100543	Cognitive impairment	5805	PTS	OMIM:261640
HP:0100543	Cognitive impairment	1537	CYC1	OMIM:615453
HP:0100543	Cognitive impairment	125988	MICOS13	OMIM:618329
HP:0100543	Cognitive impairment	57192	MCOLN1	OMIM:252650
HP:0100543	Cognitive impairment	3172	HNF4A	ORPHA:263455
HP:0100543	Cognitive impairment	5860	QDPR	OMIM:261630
HP:0100543	Cognitive impairment	51300	TIMMDC1	OMIM:618251
HP:0100543	Cognitive impairment	4700	NDUFA6	OMIM:618253
HP:0100543	Cognitive impairment	3425	IDUA	OMIM:607014
HP:0100543	Cognitive impairment	4669	NAGLU	OMIM:252920
HP:0100543	Cognitive impairment	4512	MT-CO1	ORPHA:550
HP:0100543	Cognitive impairment	4513	MT-CO2	ORPHA:550
HP:0100543	Cognitive impairment	4514	MT-CO3	ORPHA:550
HP:0100543	Cognitive impairment	4578	MT-TW	ORPHA:550
HP:0100543	Cognitive impairment	4541	MT-ND6	ORPHA:550
HP:0100543	Cognitive impairment	4535	MT-ND1	ORPHA:550
HP:0100543	Cognitive impairment	4538	MT-ND4	ORPHA:550
HP:0100543	Cognitive impairment	123606	NIPA1	ORPHA:261183
HP:0100543	Cognitive impairment	7283	TUBG1	ORPHA:261183
HP:0100543	Cognitive impairment	81614	NIPA2	ORPHA:261183
HP:0100543	Cognitive impairment	5457	POU4F1	ORPHA:314647
HP:0100543	Cognitive impairment	23261	CAMTA1	ORPHA:314647
HP:0100543	Cognitive impairment	4072	EPCAM	ORPHA:144
HP:0100543	Cognitive impairment	4292	MLH1	ORPHA:144
HP:0100543	Cognitive impairment	5395	PMS2	ORPHA:144
HP:0100543	Cognitive impairment	7048	TGFBR2	ORPHA:144
HP:0100543	Cognitive impairment	3845	KRAS	ORPHA:144
HP:0100543	Cognitive impairment	2956	MSH6	ORPHA:144
HP:0100543	Cognitive impairment	5378	PMS1	ORPHA:144
HP:0100543	Cognitive impairment	4436	MSH2	ORPHA:144
HP:0100543	Cognitive impairment	5575	PRKAR1B	ORPHA:412066
HP:0100543	Cognitive impairment	64218	SEMA4A	ORPHA:440437
HP:0100543	Cognitive impairment	5426	POLE	ORPHA:440437
HP:0100543	Cognitive impairment	675	BRCA2	ORPHA:440437
HP:0100543	Cognitive impairment	657	BMPR1A	ORPHA:440437
HP:0100543	Cognitive impairment	6224	RPS20	ORPHA:440437
HP:0100543	Cognitive impairment	4595	MUTYH	ORPHA:440437
HP:0100543	Cognitive impairment	5424	POLD1	ORPHA:440437
HP:0100543	Cognitive impairment	11200	CHEK2	ORPHA:440437
HP:0100543	Cognitive impairment	4884	NPTX1	OMIM:620158
HP:0100543	Cognitive impairment	8892	EIF2B2	OMIM:620312
HP:0100543	Cognitive impairment	84196	USP48	ORPHA:96253
HP:0100543	Cognitive impairment	9101	USP8	ORPHA:96253
HP:0100543	Cognitive impairment	64072	CDH23	ORPHA:96253
HP:0100543	Cognitive impairment	2908	NR3C1	ORPHA:96253
HP:0100543	Cognitive impairment	546	ATRX	ORPHA:96253
HP:0100543	Cognitive impairment	9692	PRORP	OMIM:619737
HP:0100543	Cognitive impairment	4358	MPV17	OMIM:256810
HP:0100543	Cognitive impairment	6843	VAMP1	OMIM:108600
HP:0100543	Cognitive impairment	6843	VAMP1	ORPHA:251282
HP:0100543	Cognitive impairment	4287	ATXN3	ORPHA:276238
HP:0100543	Cognitive impairment	4287	ATXN3	ORPHA:276244
HP:0100543	Cognitive impairment	4287	ATXN3	ORPHA:276241
HP:0100543	Cognitive impairment	57338	JPH3	ORPHA:98934
HP:0100543	Cognitive impairment	57338	JPH3	OMIM:606438
HP:0100543	Cognitive impairment	4763	NF1	ORPHA:97685
HP:0100543	Cognitive impairment	54658	UGT1A1	ORPHA:79234
HP:0100543	Cognitive impairment	9997	SCO2	OMIM:604377
HP:0100543	Cognitive impairment	7305	TYROBP	ORPHA:2770
HP:0100543	Cognitive impairment	7305	TYROBP	OMIM:221770
HP:0100543	Cognitive impairment	2259	FGF14	ORPHA:98764
HP:0100543	Cognitive impairment	1540	CYLD	OMIM:619132
HP:0100543	Cognitive impairment	7072	TIA1	OMIM:619133
HP:0100543	Cognitive impairment	10020	GNE	ORPHA:3166
HP:0100543	Cognitive impairment	5832	ALDH18A1	ORPHA:447753
HP:0100543	Cognitive impairment	1967	EIF2B1	OMIM:603896
HP:0100543	Cognitive impairment	197322	ACSF3	ORPHA:289504
HP:0100543	Cognitive impairment	4615	MYD88	ORPHA:33226
HP:0100543	Cognitive impairment	51308	REEP2	ORPHA:401849
HP:0100543	Cognitive impairment	1893	ECM1	OMIM:247100
HP:0100543	Cognitive impairment	55367	PIDD1	OMIM:619827
HP:0100543	Cognitive impairment	22796	COG2	ORPHA:435934
HP:0100543	Cognitive impairment	4297	KMT2A	ORPHA:319182
HP:0100543	Cognitive impairment	5538	PPT1	OMIM:256730
HP:0100543	Cognitive impairment	3786	KCNQ3	ORPHA:306
HP:0100543	Cognitive impairment	2584	GALK1	ORPHA:79237
HP:0100543	Cognitive impairment	2934	GSN	ORPHA:85448
HP:0100543	Cognitive impairment	11198	SUPT16H	ORPHA:261229
HP:0100543	Cognitive impairment	128	ADH5	OMIM:619151
HP:0100543	Cognitive impairment	25970	SH2B1	ORPHA:261222
HP:0100543	Cognitive impairment	25970	SH2B1	ORPHA:261197
HP:0100543	Cognitive impairment	8036	SHOC2	OMIM:607721
HP:0100543	Cognitive impairment	6535	SLC6A8	OMIM:300352
HP:0100543	Cognitive impairment	8912	CACNA1H	ORPHA:64280
HP:0100543	Cognitive impairment	8629	JRK	ORPHA:64280
HP:0100543	Cognitive impairment	23394	ADNP	ORPHA:404448
HP:0100543	Cognitive impairment	23394	ADNP	OMIM:615873
HP:0100543	Cognitive impairment	26960	NBEA	OMIM:619157
HP:0100543	Cognitive impairment	8367	H4C5	OMIM:619950
HP:0100543	Cognitive impairment	1139	CHRNA7	ORPHA:199318
HP:0100543	Cognitive impairment	1000	CDH2	OMIM:619957
HP:0100543	Cognitive impairment	1000	CDH2	OMIM:618929
HP:0100543	Cognitive impairment	1024	CDK8	OMIM:618748
HP:0100543	Cognitive impairment	775	CACNA1C	OMIM:620029
HP:0100543	Cognitive impairment	10973	ASCC3	OMIM:620700
HP:0100543	Cognitive impairment	91801	ALKBH8	OMIM:618504
HP:0100543	Cognitive impairment	7068	THRB	OMIM:274300
HP:0100543	Cognitive impairment	7068	THRB	ORPHA:566243
HP:0100543	Cognitive impairment	7068	THRB	OMIM:188570
HP:0100543	Cognitive impairment	118987	PDZD8	OMIM:620021
HP:0100543	Cognitive impairment	64324	NSD1	ORPHA:821
HP:0100543	Cognitive impairment	64324	NSD1	OMIM:117550
HP:0100543	Cognitive impairment	10297	APC2	ORPHA:821
HP:0100543	Cognitive impairment	55209	SETD5	ORPHA:404440
HP:0100543	Cognitive impairment	10093	ARPC4	OMIM:620141
HP:0100543	Cognitive impairment	116931	MED12L	OMIM:618872
HP:0100543	Cognitive impairment	3199	HOXA2	ORPHA:83463
HP:0100543	Cognitive impairment	9578	CDC42BPB	OMIM:619841
HP:0100543	Cognitive impairment	613	BCR	ORPHA:261330
HP:0100543	Cognitive impairment	1399	CRKL	ORPHA:261330
HP:0100543	Cognitive impairment	5594	MAPK1	ORPHA:261330
HP:0100543	Cognitive impairment	5594	MAPK1	OMIM:619087
HP:0100543	Cognitive impairment	55790	CSGALNACT1	OMIM:618870
HP:0100543	Cognitive impairment	51111	KMT5B	OMIM:617788
HP:0100543	Cognitive impairment	80155	NAA15	OMIM:617787
HP:0100543	Cognitive impairment	10730	YME1L1	OMIM:617302
HP:0100543	Cognitive impairment	5689	PSMB1	OMIM:620038
HP:0100543	Cognitive impairment	27102	EIF2AK1	OMIM:618878
HP:0100543	Cognitive impairment	1717	DHCR7	ORPHA:818
HP:0100543	Cognitive impairment	3781	KCNN2	OMIM:619725
HP:0100543	Cognitive impairment	7086	TKT	ORPHA:488618
HP:0100543	Cognitive impairment	7086	TKT	OMIM:617044
HP:0100543	Cognitive impairment	55636	CHD7	ORPHA:138
HP:0100543	Cognitive impairment	9723	SEMA3E	ORPHA:138
HP:0100543	Cognitive impairment	7252	TSHB	ORPHA:90674
HP:0100543	Cognitive impairment	6660	SOX5	ORPHA:313892
HP:0100543	Cognitive impairment	57589	RIC1	OMIM:618761
HP:0100543	Cognitive impairment	535	ATP6V0A1	OMIM:619971
HP:0100543	Cognitive impairment	3190	HNRNPK	OMIM:616580
HP:0100543	Cognitive impairment	284058	KANSL1	ORPHA:363958
HP:0100543	Cognitive impairment	284058	KANSL1	ORPHA:363965
HP:0100543	Cognitive impairment	340024	SLC6A19	OMIM:234500
HP:0100543	Cognitive impairment	9968	MED12	ORPHA:93932
HP:0100543	Cognitive impairment	9968	MED12	OMIM:305450
HP:0100543	Cognitive impairment	9968	MED12	ORPHA:776
HP:0100543	Cognitive impairment	51319	RSRC1	OMIM:618402
HP:0100543	Cognitive impairment	412	STS	ORPHA:281090
HP:0100543	Cognitive impairment	412	STS	ORPHA:461
HP:0100543	Cognitive impairment	1009	CDH11	OMIM:619736
HP:0100543	Cognitive impairment	3973	LHCGR	ORPHA:3000
HP:0100543	Cognitive impairment	2626	GATA4	ORPHA:251071
HP:0100543	Cognitive impairment	26523	AGO1	OMIM:620292
HP:0100543	Cognitive impairment	6899	TBX1	OMIM:188400
HP:0100543	Cognitive impairment	6899	TBX1	ORPHA:1727
HP:0100543	Cognitive impairment	6899	TBX1	ORPHA:567
HP:0100543	Cognitive impairment	26053	AUTS2	ORPHA:352490
HP:0100543	Cognitive impairment	833	CARS1	OMIM:618891
HP:0100543	Cognitive impairment	23036	ZNF292	OMIM:619188
HP:0100543	Cognitive impairment	57178	ZMIZ1	OMIM:618659
HP:0100543	Cognitive impairment	79813	EHMT1	OMIM:610253
HP:0100543	Cognitive impairment	2260	FGFR1	ORPHA:93924
HP:0100543	Cognitive impairment	2260	FGFR1	ORPHA:220386
HP:0100543	Cognitive impairment	26057	ANKRD17	OMIM:619504
HP:0100543	Cognitive impairment	23007	PLCH1	ORPHA:93925
HP:0100543	Cognitive impairment	10735	STAG2	ORPHA:93925
HP:0100543	Cognitive impairment	10735	STAG2	OMIM:301022
HP:0100543	Cognitive impairment	10735	STAG2	ORPHA:220386
HP:0100543	Cognitive impairment	10528	NOP56	ORPHA:276198
HP:0100543	Cognitive impairment	4953	ODC1	OMIM:619075
HP:0100543	Cognitive impairment	4953	ODC1	ORPHA:544488
HP:0100543	Cognitive impairment	2746	GLUD1	ORPHA:35878
HP:0100543	Cognitive impairment	30011	SH3KBP1	OMIM:300310
HP:0100543	Cognitive impairment	7025	NR2F1	ORPHA:401777
HP:0100543	Cognitive impairment	8493	PPM1D	OMIM:617450
HP:0100543	Cognitive impairment	26038	CHD5	OMIM:619873
HP:0100543	Cognitive impairment	29081	METTL5	OMIM:618665
HP:0100543	Cognitive impairment	23126	POGZ	OMIM:616364
HP:0100543	Cognitive impairment	55773	TBC1D23	OMIM:617695
HP:0100543	Cognitive impairment	9354	UBE4A	OMIM:619639
HP:0100543	Cognitive impairment	2550	GABBR1	OMIM:620502
HP:0100543	Cognitive impairment	6804	STX1A	ORPHA:904
HP:0100543	Cognitive impairment	7461	CLIP2	ORPHA:904
HP:0100543	Cognitive impairment	84277	DNAJC30	ORPHA:904
HP:0100543	Cognitive impairment	8468	FKBP6	ORPHA:904
HP:0100543	Cognitive impairment	5982	RFC2	ORPHA:904
HP:0100543	Cognitive impairment	2969	GTF2I	ORPHA:904
HP:0100543	Cognitive impairment	3984	LIMK1	ORPHA:904
HP:0100543	Cognitive impairment	9569	GTF2IRD1	ORPHA:904
HP:0100543	Cognitive impairment	155382	VPS37D	ORPHA:904
HP:0100543	Cognitive impairment	155368	METTL27	ORPHA:904
HP:0100543	Cognitive impairment	114049	BUD23	ORPHA:904
HP:0100543	Cognitive impairment	7458	EIF4H	ORPHA:904
HP:0100543	Cognitive impairment	84163	GTF2IRD2	ORPHA:904
HP:0100543	Cognitive impairment	26608	TBL2	ORPHA:904
HP:0100543	Cognitive impairment	653361	NCF1	ORPHA:904
HP:0100543	Cognitive impairment	135886	TMEM270	ORPHA:904
HP:0100543	Cognitive impairment	9031	BAZ1B	ORPHA:904
HP:0100543	Cognitive impairment	54499	TMCO1	OMIM:213980
HP:0100543	Cognitive impairment	22859	ADGRL1	OMIM:620065
HP:0100543	Cognitive impairment	1859	DYRK1A	ORPHA:464311
HP:0100543	Cognitive impairment	55719	SLF2	OMIM:620184
HP:0100543	Cognitive impairment	23137	SMC5	OMIM:620185
HP:0100543	Cognitive impairment	10236	HNRNPR	OMIM:620073
HP:0100543	Cognitive impairment	26137	ZBTB20	OMIM:259050
HP:0100543	Cognitive impairment	2312	FLG	ORPHA:461
HP:0100543	Cognitive impairment	7750	ZMYM2	OMIM:619522
HP:0100543	Cognitive impairment	3481	IGF2	ORPHA:397590
HP:0100543	Cognitive impairment	1028	CDKN1C	ORPHA:397590
HP:0100543	Cognitive impairment	5324	PLAG1	ORPHA:397590
HP:0100543	Cognitive impairment	8091	HMGA2	ORPHA:397590
HP:0100543	Cognitive impairment	200424	TET3	OMIM:618798
HP:0100543	Cognitive impairment	5422	POLA1	ORPHA:163976
HP:0100543	Cognitive impairment	5422	POLA1	OMIM:301030
HP:0100543	Cognitive impairment	23314	SATB2	ORPHA:576283
HP:0100543	Cognitive impairment	23314	SATB2	ORPHA:251019
HP:0100543	Cognitive impairment	51322	WAC	ORPHA:284169
HP:0100543	Cognitive impairment	51322	WAC	OMIM:616708
HP:0100543	Cognitive impairment	51322	WAC	ORPHA:466950
HP:0100543	Cognitive impairment	55120	FANCL	OMIM:614083
HP:0100543	Cognitive impairment	9922	IQSEC1	OMIM:618687
HP:0100543	Cognitive impairment	57479	PRR12	OMIM:619539
HP:0100543	Cognitive impairment	25836	NIPBL	OMIM:122470
HP:0100543	Cognitive impairment	25836	NIPBL	ORPHA:199
HP:0100543	Cognitive impairment	9928	KIF14	OMIM:617914
HP:0100543	Cognitive impairment	3458	IFNG	ORPHA:805
HP:0100543	Cognitive impairment	3458	IFNG	OMIM:613254
HP:0100543	Cognitive impairment	54148	MRPL39	OMIM:620646
HP:0100543	Cognitive impairment	1107	CHD3	OMIM:618205
HP:0100543	Cognitive impairment	3339	HSPG2	ORPHA:800
HP:0100543	Cognitive impairment	1173	AP2M1	ORPHA:1942
HP:0100543	Cognitive impairment	340533	NEXMIF	ORPHA:1942
HP:0100543	Cognitive impairment	6529	SLC6A1	ORPHA:1942
HP:0100543	Cognitive impairment	6529	SLC6A1	OMIM:616421
HP:0100543	Cognitive impairment	2776	GNAQ	ORPHA:3205
HP:0100543	Cognitive impairment	55023	PHIP	ORPHA:589905
HP:0100543	Cognitive impairment	55023	PHIP	OMIM:617991
HP:0100543	Cognitive impairment	29123	ANKRD11	OMIM:148050
HP:0100543	Cognitive impairment	5587	PRKD1	OMIM:617364
HP:0100543	Cognitive impairment	27133	KCNH5	OMIM:620537
HP:0100543	Cognitive impairment	221078	NSUN6	OMIM:620779
HP:0100543	Cognitive impairment	1642	DDB1	OMIM:619426
HP:0100543	Cognitive impairment	10664	CTCF	OMIM:615502
HP:0100543	Cognitive impairment	63895	PIEZO2	ORPHA:2461
HP:0100543	Cognitive impairment	196528	ARID2	OMIM:617808
HP:0100543	Cognitive impairment	835	CASP2	OMIM:620653
HP:0100543	Cognitive impairment	1801	DPH1	ORPHA:459061
HP:0100543	Cognitive impairment	1802	DPH2	ORPHA:459061
HP:0100543	Cognitive impairment	3720	JARID2	OMIM:620098
HP:0100543	Cognitive impairment	435	ASL	ORPHA:23
HP:0100543	Cognitive impairment	6909	TBX2	OMIM:618223
HP:0100543	Cognitive impairment	23013	SPEN	OMIM:619312
HP:0100543	Cognitive impairment	30000	TNPO2	OMIM:619556
HP:0100543	Cognitive impairment	57102	FERRY3	OMIM:618221
HP:0100543	Cognitive impairment	9759	HDAC4	ORPHA:1001
HP:0100543	Cognitive impairment	79903	NAA60	OMIM:620786
HP:0100543	Cognitive impairment	253738	EBF3	ORPHA:96148
HP:0100543	Cognitive impairment	3067	HDC	OMIM:137580
HP:0100543	Cognitive impairment	114798	SLITRK1	OMIM:137580
HP:0100543	Cognitive impairment	6709	SPTAN1	OMIM:620540
HP:0100543	Cognitive impairment	4076	CAPRIN1	OMIM:620782
HP:0100543	Cognitive impairment	26115	TANC2	OMIM:618906
HP:0100543	Cognitive impairment	100033413	SNORD116-1	OMIM:176270
HP:0100543	Cognitive impairment	23742	NPAP1	OMIM:176270
HP:0100543	Cognitive impairment	338433	SNORD115-1	OMIM:176270
HP:0100543	Cognitive impairment	7681	MKRN3	OMIM:176270
HP:0100543	Cognitive impairment	145624	PWAR1	OMIM:176270
HP:0100543	Cognitive impairment	3653	IPW	OMIM:176270
HP:0100543	Cognitive impairment	791114	PWRN1	OMIM:176270
HP:0100543	Cognitive impairment	5515	PPP2CA	OMIM:618354
HP:0100543	Cognitive impairment	56521	DNAJC12	OMIM:617384
HP:0100543	Cognitive impairment	55262	TRAPPC14	OMIM:618351
HP:0100543	Cognitive impairment	23030	KDM4B	OMIM:619320
HP:0100543	Cognitive impairment	473	RERE	OMIM:616975
HP:0100543	Cognitive impairment	473	RERE	ORPHA:494344
HP:0100543	Cognitive impairment	11151	CORO1A	OMIM:615401
HP:0100543	Cognitive impairment	2782	GNB1	OMIM:616973
HP:0100543	Cognitive impairment	23043	TNIK	OMIM:617028
HP:0100543	Cognitive impairment	55784	MCTP2	ORPHA:1596
HP:0100543	Cognitive impairment	23524	SRRM2	OMIM:620439
HP:0100543	Cognitive impairment	1815	DRD4	OMIM:143465
HP:0100543	Cognitive impairment	1816	DRD5	OMIM:143465
HP:0100543	Cognitive impairment	51114	ZDHHC9	ORPHA:776
HP:0100543	Cognitive impairment	65109	UPF3B	ORPHA:776
HP:0100543	Cognitive impairment	4131	MAP1B	OMIM:618918
HP:0100543	Cognitive impairment	84679	SLC9A7	OMIM:301024
HP:0100543	Cognitive impairment	1741	DLG3	OMIM:300850
HP:0100543	Cognitive impairment	7846	TUBA1A	ORPHA:467166
HP:0100543	Cognitive impairment	63035	BCORL1	OMIM:301029
HP:0100543	Cognitive impairment	9969	MED13	OMIM:618009
HP:0100543	Cognitive impairment	221037	JMJD1C	ORPHA:567
HP:0100543	Cognitive impairment	2812	GP1BB	ORPHA:567
HP:0100543	Cognitive impairment	6239	RREB1	ORPHA:567
HP:0100543	Cognitive impairment	7290	HIRA	ORPHA:567
HP:0100543	Cognitive impairment	9632	SEC24C	ORPHA:567
HP:0100543	Cognitive impairment	7353	UFD1	ORPHA:567
HP:0100543	Cognitive impairment	421	ARVCF	ORPHA:567
HP:0100543	Cognitive impairment	51185	CRBN	OMIM:607417
HP:0100543	Cognitive impairment	7703	PCGF2	OMIM:618371
HP:0100543	Cognitive impairment	1781	DYNC1I2	OMIM:618492
HP:0100543	Cognitive impairment	10524	KAT5	OMIM:619103
HP:0100543	Cognitive impairment	79576	NKAP	OMIM:301039
HP:0100543	Cognitive impairment	26040	SETBP1	OMIM:616078
HP:0100543	Cognitive impairment	3188	HNRNPH2	OMIM:300986
HP:0100543	Cognitive impairment	23152	CIC	OMIM:617600
HP:0100543	Cognitive impairment	121278	TPH2	OMIM:613003
HP:0100543	Cognitive impairment	51729	WBP11	OMIM:619227
HP:0100543	Cognitive impairment	1974	EIF4A2	OMIM:620455
HP:0100543	Cognitive impairment	55186	SLC25A36	OMIM:620211
HP:0100543	Cognitive impairment	2313	FLI1	ORPHA:2308
HP:0100543	Cognitive impairment	64864	RFX7	OMIM:620330
HP:0100543	Cognitive impairment	7074	TIAM1	OMIM:619908
HP:0100543	Cognitive impairment	23476	BRD4	ORPHA:199
HP:0100543	Cognitive impairment	6878	TAF6	ORPHA:199
HP:0100543	Cognitive impairment	55869	HDAC8	ORPHA:199
HP:0100543	Cognitive impairment	5885	RAD21	ORPHA:199
HP:0100543	Cognitive impairment	7874	USP7	ORPHA:500055
HP:0100543	Cognitive impairment	139411	PTCHD1	OMIM:300830
HP:0100543	Cognitive impairment	7204	TRIO	OMIM:618825
HP:0100543	Cognitive impairment	7204	TRIO	OMIM:617061
HP:0100543	Cognitive impairment	7204	TRIO	ORPHA:476126
HP:0100543	Cognitive impairment	23040	MYT1L	OMIM:616521
HP:0100543	Cognitive impairment	23040	MYT1L	ORPHA:647799
HP:0100543	Cognitive impairment	55526	DHTKD1	OMIM:204750
HP:0100543	Cognitive impairment	4659	PPP1R12A	OMIM:618820
HP:0100543	Cognitive impairment	3839	KPNA3	OMIM:620106
HP:0100543	Cognitive impairment	4983	OPHN1	ORPHA:137831
HP:0100543	Cognitive impairment	63932	STEEP1	OMIM:301013
HP:0100543	Cognitive impairment	1457	CSNK2A1	OMIM:617062
HP:0100543	Cognitive impairment	10681	GNB5	OMIM:617182
HP:0100543	Cognitive impairment	6872	TAF1	OMIM:300966
HP:0100543	Cognitive impairment	8567	MADD	OMIM:619005
HP:0100543	Cognitive impairment	22871	NLGN1	OMIM:618830
HP:0100543	Cognitive impairment	6472	SHMT2	OMIM:619121
HP:0100543	Cognitive impairment	23112	TNRC6B	OMIM:619243
HP:0100543	Cognitive impairment	81562	LMAN2L	OMIM:617863
HP:0100543	Cognitive impairment	2890	GRIA1	OMIM:619927
HP:0100543	Cognitive impairment	51473	DCDC2	ORPHA:84081
HP:0100543	Cognitive impairment	91147	TMEM67	ORPHA:84081
HP:0100543	Cognitive impairment	259266	ASPM	OMIM:608716
HP:0100543	Cognitive impairment	2177	FANCD2	OMIM:227646
HP:0100543	Cognitive impairment	4081	MAB21L1	ORPHA:495875
HP:0100543	Cognitive impairment	3739	KCNA4	OMIM:618284
HP:0100543	Cognitive impairment	4781	NFIB	OMIM:618286
HP:0100543	Cognitive impairment	51780	KDM3B	OMIM:618846
HP:0100543	Cognitive impairment	51317	PHF21A	OMIM:618725
HP:0100543	Cognitive impairment	203190	LGI3	OMIM:620007
HP:0100543	Cognitive impairment	10295	BCKDK	OMIM:614923
HP:0100543	Cognitive impairment	9203	ZMYM3	OMIM:301111
HP:0100543	Cognitive impairment	11011	TLK2	OMIM:618050
HP:0100543	Cognitive impairment	129285	PPP1R21	OMIM:619383
HP:0100543	Cognitive impairment	55553	SOX6	OMIM:618971
HP:0100543	Cognitive impairment	27161	AGO2	OMIM:619149
HP:0100543	Cognitive impairment	3832	KIF11	OMIM:152950
HP:0100543	Cognitive impairment	7543	ZFX	OMIM:301118
HP:0100543	Cognitive impairment	84148	KAT8	OMIM:618974
HP:0100543	Cognitive impairment	9898	UBAP2L	OMIM:620494
HP:0100543	Cognitive impairment	64682	ANAPC1	ORPHA:221008
HP:0100543	Cognitive impairment	1387	CREBBP	ORPHA:353277
HP:0100543	Cognitive impairment	1387	CREBBP	ORPHA:353281
HP:0100543	Cognitive impairment	2033	EP300	ORPHA:353284
HP:0100543	Cognitive impairment	23780	APOL2	OMIM:181500
HP:0100543	Cognitive impairment	267012	DAOA	OMIM:181500
HP:0100543	Cognitive impairment	3356	HTR2A	OMIM:181500
HP:0100543	Cognitive impairment	6854	SYN2	OMIM:181500
HP:0100543	Cognitive impairment	1814	DRD3	OMIM:181500
HP:0100543	Cognitive impairment	1312	COMT	OMIM:181500
HP:0100543	Cognitive impairment	27184	DISC2	OMIM:181500
HP:0100543	Cognitive impairment	65078	RTN4R	OMIM:181500
HP:0100543	Cognitive impairment	80832	APOL4	OMIM:181500
HP:0100543	Cognitive impairment	1116	CHI3L1	OMIM:181500
HP:0100543	Cognitive impairment	2720	GLB1	OMIM:230600
HP:0100543	Cognitive impairment	285362	SUMF1	ORPHA:585
HP:0100543	Cognitive impairment	285362	SUMF1	OMIM:272200
HP:0100543	Cognitive impairment	7528	YY1	ORPHA:97279
HP:0100543	Cognitive impairment	1512	CTSH	ORPHA:2073
HP:0100543	Cognitive impairment	5032	P2RY11	ORPHA:2073
HP:0100543	Cognitive impairment	4340	MOG	ORPHA:2073
HP:0100543	Cognitive impairment	3060	HCRT	ORPHA:2073
HP:0100543	Cognitive impairment	22891	ZNF365	ORPHA:2073
HP:0100543	Cognitive impairment	7292	TNFSF4	ORPHA:2073
HP:0100543	Cognitive impairment	3123	HLA-DRB1	ORPHA:2073
HP:0100543	Cognitive impairment	5009	OTC	ORPHA:664
HP:0100543	Cognitive impairment	2077	ERF	OMIM:600775
HP:0100543	Cognitive impairment	6907	TBL1X	OMIM:301033
HP:0100543	Cognitive impairment	284361	EMC10	OMIM:619264
HP:0100543	Cognitive impairment	8924	HERC2	OMIM:615516
HP:0100543	Cognitive impairment	3183	HNRNPC	OMIM:620688
HP:0100543	Cognitive impairment	81615	TMEM163	OMIM:620243
HP:0100543	Cognitive impairment	54808	DYM	ORPHA:239
HP:0100543	Cognitive impairment	50964	SOST	OMIM:269500
HP:0100543	Cognitive impairment	8243	SMC1A	OMIM:300590
HP:0100543	Cognitive impairment	4524	MTHFR	ORPHA:395
HP:0100543	Cognitive impairment	91574	MTRFR	ORPHA:254930
HP:0100543	Cognitive impairment	91574	MTRFR	OMIM:615035
HP:0100543	Cognitive impairment	91574	MTRFR	ORPHA:320375
HP:0100543	Cognitive impairment	4099	MAG	OMIM:616680
HP:0100543	Cognitive impairment	8106	PABPN1	ORPHA:270
HP:0100543	Cognitive impairment	2200	FBN1	ORPHA:1885
HP:0100543	Cognitive impairment	54507	ADAMTSL4	ORPHA:1885
HP:0100543	Cognitive impairment	1161	ERCC8	ORPHA:90324
HP:0100543	Cognitive impairment	2074	ERCC6	ORPHA:90324
HP:0100543	Cognitive impairment	400916	CHCHD10	OMIM:615911
HP:0100543	Cognitive impairment	400916	CHCHD10	ORPHA:803
HP:0100543	Cognitive impairment	11284	PNKP	ORPHA:459033
HP:0100543	Cognitive impairment	11284	PNKP	OMIM:616267
HP:0100543	Cognitive impairment	123263	MTFMT	OMIM:614947
HP:0100543	Cognitive impairment	6326	SCN2A	ORPHA:293181
HP:0100543	Cognitive impairment	6326	SCN2A	ORPHA:36387
HP:0100543	Cognitive impairment	6326	SCN2A	ORPHA:33069
HP:0100543	Cognitive impairment	57468	SLC12A5	ORPHA:293181
HP:0100543	Cognitive impairment	23236	PLCB1	ORPHA:293181
HP:0100543	Cognitive impairment	3785	KCNQ2	ORPHA:293181
HP:0100543	Cognitive impairment	57582	KCNT1	ORPHA:293181
HP:0100543	Cognitive impairment	57582	KCNT1	ORPHA:98784
HP:0100543	Cognitive impairment	5277	PIGA	ORPHA:293181
HP:0100543	Cognitive impairment	6323	SCN1A	ORPHA:293181
HP:0100543	Cognitive impairment	6323	SCN1A	ORPHA:36387
HP:0100543	Cognitive impairment	6323	SCN1A	ORPHA:33069
HP:0100543	Cognitive impairment	79751	SLC25A22	ORPHA:293181
HP:0100543	Cognitive impairment	57465	TBC1D24	ORPHA:293181
HP:0100543	Cognitive impairment	4774	NFIA	OMIM:613735
HP:0100543	Cognitive impairment	2261	FGFR3	ORPHA:93274
HP:0100543	Cognitive impairment	9881	TRANK1	ORPHA:33543
HP:0100543	Cognitive impairment	1131	CHRM3	ORPHA:2970
HP:0100543	Cognitive impairment	51816	ADA2	ORPHA:820
HP:0100543	Cognitive impairment	5428	POLG	ORPHA:94125
HP:0100543	Cognitive impairment	5428	POLG	OMIM:607459
HP:0100543	Cognitive impairment	5428	POLG	ORPHA:254892
HP:0100543	Cognitive impairment	5428	POLG	ORPHA:254886
HP:0100543	Cognitive impairment	5428	POLG	ORPHA:70595
HP:0100543	Cognitive impairment	57165	GJC2	OMIM:608804
HP:0100543	Cognitive impairment	57165	GJC2	OMIM:613206
HP:0100543	Cognitive impairment	3074	HEXB	ORPHA:309162
HP:0100543	Cognitive impairment	51218	GLRX5	ORPHA:401866
HP:0100543	Cognitive impairment	5155	PDGFB	OMIM:615483
HP:0100543	Cognitive impairment	5155	PDGFB	ORPHA:2495
HP:0100543	Cognitive impairment	3145	HMBS	OMIM:620711
HP:0100543	Cognitive impairment	2314	FLII	ORPHA:819
HP:0100543	Cognitive impairment	23096	IQSEC2	ORPHA:819
HP:0100543	Cognitive impairment	10743	RAI1	ORPHA:819
HP:0100543	Cognitive impairment	10522	DEAF1	ORPHA:819
HP:0100543	Cognitive impairment	3908	LAMA2	ORPHA:258
HP:0100543	Cognitive impairment	100996717	NOTCH2NLC	OMIM:603472
HP:0100543	Cognitive impairment	23400	ATP13A2	ORPHA:314632
HP:0100543	Cognitive impairment	23400	ATP13A2	ORPHA:513436
HP:0100543	Cognitive impairment	6023	RMRP	ORPHA:175
HP:0100543	Cognitive impairment	28958	COA3	OMIM:619058
HP:0100543	Cognitive impairment	79868	ALG13	ORPHA:324422
HP:0100543	Cognitive impairment	347733	TUBB2B	ORPHA:300573
HP:0100543	Cognitive impairment	215	ABCD1	ORPHA:139399
HP:0100543	Cognitive impairment	1716	DGUOK	ORPHA:329314
HP:0100543	Cognitive impairment	3423	IDS	ORPHA:217085
HP:0100543	Cognitive impairment	3423	IDS	ORPHA:217093
HP:0100543	Cognitive impairment	311	ANXA11	OMIM:619733
HP:0100543	Cognitive impairment	311	ANXA11	ORPHA:803
HP:0100543	Cognitive impairment	129607	CMPK2	OMIM:621018
HP:0100543	Cognitive impairment	23732	FRRS1L	ORPHA:725
HP:0100543	Cognitive impairment	2903	GRIN2A	ORPHA:725
HP:0100543	Cognitive impairment	7555	CNBP	ORPHA:606
HP:0100543	Cognitive impairment	10157	AASS	ORPHA:3124
HP:0100543	Cognitive impairment	10157	AASS	OMIM:238700
HP:0100543	Cognitive impairment	8200	GDF5	ORPHA:968
HP:0100543	Cognitive impairment	6513	SLC2A1	OMIM:601042
HP:0100543	Cognitive impairment	8131	NPRL3	ORPHA:98820
HP:0100543	Cognitive impairment	10641	NPRL2	ORPHA:98820
HP:0100543	Cognitive impairment	9681	DEPDC5	ORPHA:98820
HP:0100543	Cognitive impairment	9681	DEPDC5	ORPHA:98784
HP:0100543	Cognitive impairment	1130	LYST	ORPHA:167
HP:0100543	Cognitive impairment	22	ABCB7	OMIM:301310
HP:0100543	Cognitive impairment	22	ABCB7	ORPHA:2802
HP:0100543	Cognitive impairment	6687	SPG7	OMIM:607259
HP:0100543	Cognitive impairment	1281	COL3A1	ORPHA:286
HP:0100543	Cognitive impairment	84504	NKX6-2	OMIM:617560
HP:0100543	Cognitive impairment	478	ATP1A3	ORPHA:1171
HP:0100543	Cognitive impairment	5297	PI4KA	OMIM:619621
HP:0100543	Cognitive impairment	23203	PMPCA	ORPHA:1170
HP:0100543	Cognitive impairment	246243	RNASEH1	OMIM:616479
HP:0100543	Cognitive impairment	1641	DCX	ORPHA:2148
HP:0100543	Cognitive impairment	23461	ABCA5	ORPHA:2026
HP:0100543	Cognitive impairment	9131	AIFM1	OMIM:310490
HP:0100543	Cognitive impairment	93627	TBCK	ORPHA:488632
HP:0100543	Cognitive impairment	54840	APTX	OMIM:208920
HP:0100543	Cognitive impairment	54832	VPS13C	ORPHA:2828
HP:0100543	Cognitive impairment	11315	PARK7	ORPHA:2828
HP:0100543	Cognitive impairment	7345	UCHL1	ORPHA:2828
HP:0100543	Cognitive impairment	27429	HTRA2	ORPHA:2828
HP:0100543	Cognitive impairment	120892	LRRK2	ORPHA:2828
HP:0100543	Cognitive impairment	9829	DNAJC6	ORPHA:2828
HP:0100543	Cognitive impairment	9829	DNAJC6	OMIM:615528
HP:0100543	Cognitive impairment	6622	SNCA	ORPHA:2828
HP:0100543	Cognitive impairment	6622	SNCA	ORPHA:171695
HP:0100543	Cognitive impairment	5420	PODXL	ORPHA:2828
HP:0100543	Cognitive impairment	65018	PINK1	ORPHA:2828
HP:0100543	Cognitive impairment	8867	SYNJ1	ORPHA:2828
HP:0100543	Cognitive impairment	5071	PRKN	ORPHA:2828
HP:0100543	Cognitive impairment	55157	DARS2	OMIM:611105
HP:0100543	Cognitive impairment	4747	NEFL	ORPHA:101085
HP:0100543	Cognitive impairment	6335	SCN9A	ORPHA:36387
HP:0100543	Cognitive impairment	6335	SCN9A	ORPHA:33069
HP:0100543	Cognitive impairment	112755	STX1B	ORPHA:36387
HP:0100543	Cognitive impairment	2563	GABRD	ORPHA:36387
HP:0100543	Cognitive impairment	112476	PRRT2	ORPHA:36387
HP:0100543	Cognitive impairment	6324	SCN1B	ORPHA:36387
HP:0100543	Cognitive impairment	6324	SCN1B	ORPHA:33069
HP:0100543	Cognitive impairment	348980	HCN1	ORPHA:36387
HP:0100543	Cognitive impairment	2258	FGF13	ORPHA:36387
HP:0100543	Cognitive impairment	84059	ADGRV1	ORPHA:36387
HP:0100543	Cognitive impairment	2566	GABRG2	ORPHA:36387
HP:0100543	Cognitive impairment	2566	GABRG2	ORPHA:33069
HP:0100543	Cognitive impairment	5621	PRNP	ORPHA:356
HP:0100543	Cognitive impairment	5621	PRNP	ORPHA:466
HP:0100543	Cognitive impairment	5621	PRNP	ORPHA:157941
HP:0100543	Cognitive impairment	5621	PRNP	ORPHA:280397
HP:0100543	Cognitive impairment	5654	HTRA1	ORPHA:199354
HP:0100543	Cognitive impairment	5654	HTRA1	OMIM:616779
HP:0100543	Cognitive impairment	339453	TMEM240	ORPHA:98773
HP:0100543	Cognitive impairment	339453	TMEM240	OMIM:607454
HP:0100543	Cognitive impairment	3735	KARS1	OMIM:619196
HP:0100543	Cognitive impairment	7840	ALMS1	ORPHA:64
HP:0100543	Cognitive impairment	9056	SLC7A7	ORPHA:470
HP:0100543	Cognitive impairment	92482	BBIP1	ORPHA:110
HP:0100543	Cognitive impairment	80184	CEP290	ORPHA:110
HP:0100543	Cognitive impairment	11020	IFT27	ORPHA:110
HP:0100543	Cognitive impairment	582	BBS1	ORPHA:110
HP:0100543	Cognitive impairment	49855	SCAPER	ORPHA:110
HP:0100543	Cognitive impairment	4867	NPHP1	ORPHA:110
HP:0100543	Cognitive impairment	51057	WDPCP	ORPHA:110
HP:0100543	Cognitive impairment	132320	SCLT1	ORPHA:110
HP:0100543	Cognitive impairment	27241	BBS9	ORPHA:110
HP:0100543	Cognitive impairment	84984	CEP19	ORPHA:110
HP:0100543	Cognitive impairment	22954	TRIM32	ORPHA:110
HP:0100543	Cognitive impairment	54903	MKS1	ORPHA:110
HP:0100543	Cognitive impairment	79738	BBS10	ORPHA:110
HP:0100543	Cognitive impairment	123016	TTC8	ORPHA:110
HP:0100543	Cognitive impairment	26160	IFT172	ORPHA:110
HP:0100543	Cognitive impairment	583	BBS2	ORPHA:110
HP:0100543	Cognitive impairment	585	BBS4	ORPHA:110
HP:0100543	Cognitive impairment	8195	MKKS	ORPHA:110
HP:0100543	Cognitive impairment	54585	LZTFL1	ORPHA:110
HP:0100543	Cognitive impairment	54585	LZTFL1	OMIM:615994
HP:0100543	Cognitive impairment	55212	BBS7	ORPHA:110
HP:0100543	Cognitive impairment	166379	BBS12	ORPHA:110
HP:0100543	Cognitive impairment	166379	BBS12	OMIM:615989
HP:0100543	Cognitive impairment	10806	SDCCAG8	ORPHA:110
HP:0100543	Cognitive impairment	10806	SDCCAG8	OMIM:615993
HP:0100543	Cognitive impairment	157657	CFAP418	ORPHA:110
HP:0100543	Cognitive impairment	84100	ARL6	ORPHA:110
HP:0100543	Cognitive impairment	129880	BBS5	ORPHA:110
HP:0100543	Cognitive impairment	80173	IFT74	ORPHA:110
HP:0100543	Cognitive impairment	113612	CYP2U1	OMIM:615030
HP:0100543	Cognitive impairment	113612	CYP2U1	ORPHA:320411
HP:0100543	Cognitive impairment	7157	TP53	ORPHA:2807
HP:0100543	Cognitive impairment	4952	OCRL	OMIM:300555
HP:0100543	Cognitive impairment	1593	CYP27A1	ORPHA:909
HP:0100543	Cognitive impairment	54902	TTC19	OMIM:615157
HP:0100543	Cognitive impairment	8314	BAP1	ORPHA:2495
HP:0100543	Cognitive impairment	4771	NF2	ORPHA:2495
HP:0100543	Cognitive impairment	6598	SMARCB1	ORPHA:2495
HP:0100543	Cognitive impairment	84231	TRAF7	ORPHA:2495
HP:0100543	Cognitive impairment	6608	SMO	ORPHA:2495
HP:0100543	Cognitive impairment	207	AKT1	ORPHA:2495
HP:0100543	Cognitive impairment	207	AKT1	ORPHA:201
HP:0100543	Cognitive impairment	5290	PIK3CA	ORPHA:2495
HP:0100543	Cognitive impairment	5290	PIK3CA	ORPHA:221061
HP:0100543	Cognitive impairment	5290	PIK3CA	ORPHA:201
HP:0100543	Cognitive impairment	7015	TERT	ORPHA:2495
HP:0100543	Cognitive impairment	51684	SUFU	ORPHA:2495
HP:0100543	Cognitive impairment	6605	SMARCE1	ORPHA:2495
HP:0100543	Cognitive impairment	5354	PLP1	ORPHA:280219
HP:0100543	Cognitive impairment	5354	PLP1	OMIM:312080
HP:0100543	Cognitive impairment	5582	PRKCG	ORPHA:98763
HP:0100543	Cognitive impairment	148789	B3GALNT2	ORPHA:588
HP:0100543	Cognitive impairment	29925	GMPPB	ORPHA:588
HP:0100543	Cognitive impairment	29925	GMPPB	ORPHA:363623
HP:0100543	Cognitive impairment	79147	FKRP	ORPHA:588
HP:0100543	Cognitive impairment	9215	LARGE1	ORPHA:588
HP:0100543	Cognitive impairment	29954	POMT2	ORPHA:588
HP:0100543	Cognitive impairment	29954	POMT2	ORPHA:206559
HP:0100543	Cognitive impairment	2218	FKTN	ORPHA:588
HP:0100543	Cognitive impairment	729920	CRPPA	ORPHA:588
HP:0100543	Cognitive impairment	55624	POMGNT1	ORPHA:588
HP:0100543	Cognitive impairment	10585	POMT1	ORPHA:588
HP:0100543	Cognitive impairment	1822	ATN1	ORPHA:101
HP:0100543	Cognitive impairment	8517	IKBKG	ORPHA:464
HP:0100543	Cognitive impairment	472	ATM	ORPHA:100
HP:0100543	Cognitive impairment	5521	PPP2R2B	ORPHA:98762
HP:0100543	Cognitive impairment	2521	FUS	ORPHA:300605
HP:0100543	Cognitive impairment	2521	FUS	ORPHA:803
HP:0100543	Cognitive impairment	80208	SPG11	ORPHA:300605
HP:0100543	Cognitive impairment	80208	SPG11	OMIM:602099
HP:0100543	Cognitive impairment	10280	SIGMAR1	ORPHA:300605
HP:0100543	Cognitive impairment	10558	SPTLC1	ORPHA:300605
HP:0100543	Cognitive impairment	57679	ALS2	ORPHA:300605
HP:0100543	Cognitive impairment	79798	ARMC5	ORPHA:189427
HP:0100543	Cognitive impairment	23028	KDM1A	ORPHA:189427
HP:0100543	Cognitive impairment	2778	GNAS	ORPHA:189427
HP:0100543	Cognitive impairment	2778	GNAS	OMIM:612463
HP:0100543	Cognitive impairment	2778	GNAS	OMIM:612462
HP:0100543	Cognitive impairment	2778	GNAS	OMIM:103580
HP:0100543	Cognitive impairment	1356	CP	ORPHA:48818
HP:0100543	Cognitive impairment	3708	ITPR1	OMIM:117360
HP:0100543	Cognitive impairment	3708	ITPR1	ORPHA:208513
HP:0100543	Cognitive impairment	6310	ATXN1	ORPHA:98755
HP:0100543	Cognitive impairment	6310	ATXN1	OMIM:164400
HP:0100543	Cognitive impairment	4854	NOTCH3	ORPHA:136
HP:0100543	Cognitive impairment	2706	GJB2	ORPHA:494
HP:0100543	Cognitive impairment	80025	PANK2	ORPHA:216873
HP:0100543	Cognitive impairment	80025	PANK2	ORPHA:216866
HP:0100543	Cognitive impairment	1282	COL4A1	OMIM:618564
HP:0100543	Cognitive impairment	9652	SKIC3	OMIM:222470
HP:0100543	Cognitive impairment	7317	UBA1	ORPHA:1145
HP:0100543	Cognitive impairment	162417	NAGS	ORPHA:927
HP:0100543	Cognitive impairment	162417	NAGS	OMIM:237310
HP:0100543	Cognitive impairment	545	ATR	ORPHA:808
HP:0100543	Cognitive impairment	1062	CENPE	ORPHA:808
HP:0100543	Cognitive impairment	5116	PCNT	ORPHA:808
HP:0100543	Cognitive impairment	5932	RBBP8	ORPHA:808
HP:0100543	Cognitive impairment	79902	NUP85	ORPHA:808
HP:0100543	Cognitive impairment	84126	ATRIP	ORPHA:808
HP:0100543	Cognitive impairment	10293	TRAIP	ORPHA:808
HP:0100543	Cognitive impairment	1763	DNA2	ORPHA:808
HP:0100543	Cognitive impairment	22995	CEP152	ORPHA:808
HP:0100543	Cognitive impairment	10733	PLK4	ORPHA:808
HP:0100543	Cognitive impairment	2055	CLN8	ORPHA:1947
HP:0100543	Cognitive impairment	3752	KCND3	OMIM:607346
HP:0100543	Cognitive impairment	25978	CHMP2B	ORPHA:803
HP:0100543	Cognitive impairment	3178	HNRNPA1	ORPHA:803
HP:0100543	Cognitive impairment	8148	TAF15	ORPHA:803
HP:0100543	Cognitive impairment	5445	PON2	ORPHA:803
HP:0100543	Cognitive impairment	9217	VAPB	ORPHA:803
HP:0100543	Cognitive impairment	9217	VAPB	OMIM:608627
HP:0100543	Cognitive impairment	8878	SQSTM1	ORPHA:803
HP:0100543	Cognitive impairment	8878	SQSTM1	OMIM:617145
HP:0100543	Cognitive impairment	5630	PRPH	ORPHA:803
HP:0100543	Cognitive impairment	29110	TBK1	ORPHA:803
HP:0100543	Cognitive impairment	55830	GLT8D1	ORPHA:803
HP:0100543	Cognitive impairment	755	CFAP410	ORPHA:803
HP:0100543	Cognitive impairment	10891	PPARGC1A	ORPHA:803
HP:0100543	Cognitive impairment	6647	SOD1	ORPHA:803
HP:0100543	Cognitive impairment	10133	OPTN	ORPHA:803
HP:0100543	Cognitive impairment	1639	DCTN1	ORPHA:803
HP:0100543	Cognitive impairment	9896	FIG4	ORPHA:803
HP:0100543	Cognitive impairment	5444	PON1	ORPHA:803
HP:0100543	Cognitive impairment	5446	PON3	ORPHA:803
HP:0100543	Cognitive impairment	4744	NEFH	ORPHA:803
HP:0100543	Cognitive impairment	5216	PFN1	ORPHA:803
HP:0100543	Cognitive impairment	9782	MATR3	ORPHA:803
HP:0100543	Cognitive impairment	54209	TREM2	ORPHA:803
HP:0100543	Cognitive impairment	7415	VCP	ORPHA:803
HP:0100543	Cognitive impairment	283	ANG	ORPHA:803
HP:0100543	Cognitive impairment	23435	TARDBP	ORPHA:803
HP:0100543	Cognitive impairment	29978	UBQLN2	ORPHA:803
HP:0100543	Cognitive impairment	2733	GLE1	ORPHA:803
HP:0100543	Cognitive impairment	4750	NEK1	ORPHA:803
HP:0100543	Cognitive impairment	6311	ATXN2	ORPHA:803
HP:0100543	Cognitive impairment	1610	DAO	ORPHA:803
HP:0100543	Cognitive impairment	2066	ERBB4	ORPHA:803
HP:0100543	Cognitive impairment	23025	UNC13A	ORPHA:803
HP:0100543	Cognitive impairment	899	CCNF	ORPHA:803
HP:0100543	Cognitive impairment	79158	GNPTAB	ORPHA:423461
HP:0100543	Cognitive impairment	79158	GNPTAB	ORPHA:576
HP:0100543	Cognitive impairment	2475	MTOR	OMIM:607341
HP:0100543	Cognitive impairment	7248	TSC1	OMIM:607341
HP:0100543	Cognitive impairment	7248	TSC1	ORPHA:538
HP:0100543	Cognitive impairment	7249	TSC2	OMIM:607341
HP:0100543	Cognitive impairment	7249	TSC2	ORPHA:538
HP:0100543	Cognitive impairment	2512	FTL	ORPHA:157846
HP:0100543	Cognitive impairment	56652	TWNK	OMIM:607459
HP:0100543	Cognitive impairment	56652	TWNK	ORPHA:254892
HP:0100543	Cognitive impairment	56652	TWNK	ORPHA:70595
HP:0100543	Cognitive impairment	3798	KIF5A	ORPHA:100991
HP:0100543	Cognitive impairment	11277	TREX1	ORPHA:247691
HP:0100543	Cognitive impairment	4509	MT-ATP8	ORPHA:480
HP:0100543	Cognitive impairment	4567	MT-TL1	ORPHA:480
HP:0100543	Cognitive impairment	4567	MT-TL1	ORPHA:551
HP:0100543	Cognitive impairment	50484	RRM2B	ORPHA:480
HP:0100543	Cognitive impairment	50484	RRM2B	ORPHA:254892
HP:0100543	Cognitive impairment	23503	ZFYVE26	ORPHA:100996
HP:0100543	Cognitive impairment	25793	FBXO7	ORPHA:171695
HP:0100543	Cognitive impairment	355	FAS	ORPHA:3437
HP:0100543	Cognitive impairment	26191	PTPN22	ORPHA:3437
HP:0100543	Cognitive impairment	120	ADD3	OMIM:617008
HP:0100543	Cognitive impairment	80207	OPA3	OMIM:258501
HP:0100543	Cognitive impairment	9573	GDF3	ORPHA:2345
HP:0100543	Cognitive impairment	392255	GDF6	ORPHA:2345
HP:0100543	Cognitive impairment	4222	MEOX1	ORPHA:2345
HP:0100543	Cognitive impairment	2245	FGD1	ORPHA:915
HP:0100543	Cognitive impairment	137492	VPS37A	OMIM:614898
HP:0100543	Cognitive impairment	55670	PEX26	ORPHA:912
HP:0100543	Cognitive impairment	5824	PEX19	ORPHA:912
HP:0100543	Cognitive impairment	5828	PEX2	ORPHA:912
HP:0100543	Cognitive impairment	8504	PEX3	ORPHA:912
HP:0100543	Cognitive impairment	8799	PEX11B	ORPHA:912
HP:0100543	Cognitive impairment	9409	PEX16	ORPHA:912
HP:0100543	Cognitive impairment	5190	PEX6	ORPHA:912
HP:0100543	Cognitive impairment	5830	PEX5	ORPHA:912
HP:0100543	Cognitive impairment	5189	PEX1	ORPHA:912
HP:0100543	Cognitive impairment	5193	PEX12	ORPHA:912
HP:0100543	Cognitive impairment	5194	PEX13	ORPHA:912
HP:0100543	Cognitive impairment	5195	PEX14	ORPHA:912
HP:0100543	Cognitive impairment	5192	PEX10	ORPHA:912
HP:0100543	Cognitive impairment	4001	LMNB1	ORPHA:99027
HP:0100543	Cognitive impairment	10878	CFHR3	OMIM:235400
HP:0100543	Cognitive impairment	3075	CFH	OMIM:235400
HP:0100543	Cognitive impairment	3078	CFHR1	OMIM:235400
HP:0100543	Cognitive impairment	84705	GTPBP3	ORPHA:444013
HP:0100543	Cognitive impairment	2068	ERCC2	ORPHA:910
HP:0100543	Cognitive impairment	7507	XPA	ORPHA:910
HP:0100543	Cognitive impairment	2071	ERCC3	ORPHA:910
HP:0100543	Cognitive impairment	7508	XPC	ORPHA:910
HP:0100543	Cognitive impairment	1643	DDB2	ORPHA:910
HP:0100543	Cognitive impairment	2072	ERCC4	ORPHA:910
HP:0100543	Cognitive impairment	2073	ERCC5	ORPHA:910
HP:0100543	Cognitive impairment	4558	MT-TF	ORPHA:551
HP:0100543	Cognitive impairment	4549	MT-RNR1	ORPHA:551
HP:0100543	Cognitive impairment	4574	MT-TS1	ORPHA:551
HP:0100543	Cognitive impairment	4575	MT-TS2	ORPHA:551
HP:0100543	Cognitive impairment	4571	MT-TP	ORPHA:551
HP:0100543	Cognitive impairment	4572	MT-TQ	ORPHA:551
HP:0100543	Cognitive impairment	4540	MT-ND5	ORPHA:551
HP:0100543	Cognitive impairment	4566	MT-TK	ORPHA:551
HP:0100543	Cognitive impairment	4564	MT-TH	ORPHA:551
HP:0100543	Cognitive impairment	2639	GCDH	ORPHA:25
HP:0100543	Cognitive impairment	291	SLC25A4	ORPHA:254892
HP:0100543	Cognitive impairment	11232	POLG2	ORPHA:254892
HP:0100543	Cognitive impairment	6492	SIM1	ORPHA:369873
HP:0100543	Cognitive impairment	92935	MARS2	OMIM:611390
HP:0100543	Cognitive impairment	6683	SPAST	ORPHA:100985
HP:0100543	Cognitive impairment	51117	COQ4	OMIM:620666
HP:0100543	Cognitive impairment	6775	STAT4	ORPHA:93552
HP:0100543	Cognitive impairment	6696	SPP1	ORPHA:93552
HP:0100543	Cognitive impairment	6303	SAT1	ORPHA:93552
HP:0100543	Cognitive impairment	3654	IRAK1	ORPHA:93552
HP:0100543	Cognitive impairment	6571	SLC18A2	ORPHA:352649
HP:0100543	Cognitive impairment	27235	COQ2	OMIM:146500
HP:0100543	Cognitive impairment	10102	TSFM	OMIM:610505
HP:0100543	Cognitive impairment	1908	EDN3	ORPHA:661
HP:0100543	Cognitive impairment	2668	GDNF	ORPHA:661
HP:0100543	Cognitive impairment	627	BDNF	ORPHA:661
HP:0100543	Cognitive impairment	10660	LBX1	ORPHA:661
HP:0100543	Cognitive impairment	283446	MYO1H	ORPHA:661
HP:0100543	Cognitive impairment	8929	PHOX2B	ORPHA:661
HP:0100543	Cognitive impairment	26580	BSCL2	ORPHA:363400
HP:0100543	Cognitive impairment	9150	CTDP1	OMIM:604168
HP:0100543	Cognitive impairment	3748	KCNC3	OMIM:605259
HP:0100543	Cognitive impairment	3106	HLA-B	ORPHA:29207
HP:0100543	Cognitive impairment	11235	PDCD10	ORPHA:221061
HP:0100543	Cognitive impairment	83605	CCM2	ORPHA:221061
HP:0100543	Cognitive impairment	889	KRIT1	ORPHA:221061
HP:0100543	Cognitive impairment	7084	TK2	ORPHA:254886
HP:0100543	Cognitive impairment	7084	TK2	ORPHA:254875
HP:0100543	Cognitive impairment	1436	CSF1R	OMIM:618476
HP:0100543	Cognitive impairment	54453	RIN2	ORPHA:217335
HP:0100543	Cognitive impairment	10273	STUB1	OMIM:615768
HP:0100543	Cognitive impairment	10273	STUB1	ORPHA:412057
HP:0100543	Cognitive impairment	3897	L1CAM	ORPHA:306617
HP:0100543	Cognitive impairment	9126	SMC3	OMIM:610759
HP:0100543	Cognitive impairment	10166	SLC25A15	ORPHA:415
HP:0100543	Cognitive impairment	2542	SLC37A4	ORPHA:79259
HP:0100543	Cognitive impairment	147409	DSG4	ORPHA:573
HP:0100543	Cognitive impairment	3892	KRT86	ORPHA:573
HP:0100543	Cognitive impairment	3889	KRT83	ORPHA:573
HP:0100543	Cognitive impairment	3887	KRT81	ORPHA:573
HP:0100543	Cognitive impairment	10059	DNM1L	ORPHA:98673
HP:0100543	Cognitive impairment	4976	OPA1	ORPHA:98673
HP:0100543	Cognitive impairment	2895	GRID2	ORPHA:363432
HP:0100543	Cognitive impairment	54551	MAGEL2	ORPHA:398069
HP:0100543	Cognitive impairment	549	AUH	OMIM:250950
HP:0100543	Cognitive impairment	2717	GLA	ORPHA:324
HP:0100543	Cognitive impairment	10483	SEC23B	ORPHA:201
HP:0100543	Cognitive impairment	5728	PTEN	ORPHA:201
HP:0100543	Cognitive impairment	6390	SDHB	ORPHA:201
HP:0100543	Cognitive impairment	6392	SDHD	ORPHA:201
HP:0100543	Cognitive impairment	6391	SDHC	ORPHA:201
HP:0100543	Cognitive impairment	205717	USF3	ORPHA:201
HP:0100543	Cognitive impairment	100144748	KLLN	ORPHA:201
HP:0100543	Cognitive impairment	2632	GBE1	OMIM:263570
HP:0100543	Cognitive impairment	1137	CHRNA4	ORPHA:98784
HP:0100543	Cognitive impairment	1135	CHRNA2	ORPHA:98784
HP:0100543	Cognitive impairment	57010	CABP4	ORPHA:98784
HP:0100543	Cognitive impairment	1141	CHRNB2	ORPHA:98784
HP:0100543	Cognitive impairment	1392	CRH	ORPHA:98784
HP:0100543	Cognitive impairment	9420	CYP7B1	OMIM:270800
HP:0100543	Cognitive impairment	23111	SPART	ORPHA:101000
HP:0100543	Cognitive impairment	5611	DNAJC3	OMIM:616192
HP:0100543	Cognitive impairment	6712	SPTBN2	OMIM:600224
HP:0100543	Cognitive impairment	9757	KMT2B	OMIM:617284
HP:0100543	Cognitive impairment	23395	LARS2	OMIM:615300
HP:0100543	Cognitive impairment	79827	CLMP	ORPHA:2301
HP:0100543	Cognitive impairment	2316	FLNA	ORPHA:2301
HP:0100543	Cognitive impairment	3181	HNRNPA2B1	OMIM:615422
HP:0100543	Cognitive impairment	2239	GPC4	ORPHA:2662
HP:0100543	Cognitive impairment	151516	ASPRV1	ORPHA:313
HP:0100543	Cognitive impairment	242	ALOX12B	ORPHA:313
HP:0100543	Cognitive impairment	126410	CYP4F22	ORPHA:313
HP:0100543	Cognitive impairment	6820	SULT2B1	ORPHA:313
HP:0100543	Cognitive impairment	26154	ABCA12	ORPHA:313
HP:0100543	Cognitive impairment	643418	LIPN	ORPHA:313
HP:0100543	Cognitive impairment	59344	ALOXE3	ORPHA:313
HP:0100543	Cognitive impairment	348938	NIPAL4	ORPHA:313
HP:0100543	Cognitive impairment	121214	SDR9C7	ORPHA:313
HP:0100543	Cognitive impairment	7051	TGM1	ORPHA:313
HP:0100543	Cognitive impairment	1756	DMD	ORPHA:98896
HP:0100543	Cognitive impairment	8425	LTBP4	ORPHA:98896
HP:0100543	Cognitive impairment	56978	PRDM8	OMIM:616640
HP:0100543	Cognitive impairment	64840	PORCN	ORPHA:2092
HP:0100543	Cognitive impairment	6711	SPTBN1	OMIM:619475
HP:0100543	Cognitive impairment	2554	GABRA1	ORPHA:33069
HP:0100543	Cognitive impairment	57526	PCDH19	ORPHA:33069
HP:0100543	Cognitive impairment	1497	CTNS	ORPHA:411629
HP:0100543	Cognitive impairment	6697	SPR	ORPHA:70594
HP:0100543	Cognitive impairment	56910	STARD7	OMIM:607876
HP:0100543	Cognitive impairment	2760	GM2A	ORPHA:309246
HP:0100543	Cognitive impairment	10939	AFG3L2	ORPHA:101109
HP:0100543	Cognitive impairment	10939	AFG3L2	OMIM:614487
HP:0100543	Cognitive impairment	9213	XPR1	OMIM:616413
HP:0100543	Cognitive impairment	79152	FA2H	ORPHA:171629
HP:0100543	Cognitive impairment	57704	GBA2	ORPHA:320391
HP:0100543	Cognitive impairment	4128	MAOA	ORPHA:3057
HP:0100543	Cognitive impairment	10137	RBM12	OMIM:617629
HP:0100543	Cognitive impairment	199221	DZIP1L	ORPHA:731
HP:0100543	Cognitive impairment	5314	PKHD1	ORPHA:731
HP:0100543	Cognitive impairment	673	BRAF	OMIM:613706
HP:0100543	Cognitive impairment	2767	GNA11	ORPHA:1556
HP:0100543	Cognitive impairment	151188	ARL6IP6	ORPHA:1556
HP:0100543	Cognitive impairment	80347	COASY	ORPHA:397725
HP:0100543	Cognitive impairment	3920	LAMP2	OMIM:300257
HP:0100543	Cognitive impairment	7518	XRCC4	OMIM:616541
HP:0100543	Cognitive impairment	200205	IBA57	OMIM:615330
HP:0100543	Cognitive impairment	8575	PRKRA	OMIM:612067
HP:0100543	Cognitive impairment	727676	SNORD118	ORPHA:542310
HP:0100543	Cognitive impairment	4621	MYH3	ORPHA:2990
HP:0100543	Cognitive impairment	1146	CHRNG	ORPHA:2990
HP:0100543	Cognitive impairment	6389	SDHA	OMIM:252011
HP:0100543	Cognitive impairment	4668	NAGA	OMIM:609242
HP:0100543	Cognitive impairment	23529	CLCF1	ORPHA:1545
HP:0100543	Cognitive impairment	9244	CRLF1	ORPHA:1545
HP:0100543	Cognitive impairment	5664	PSEN2	OMIM:606889
HP:0100543	Cognitive impairment	348	APOE	OMIM:606889
HP:0100543	Cognitive impairment	8913	CACNA1G	OMIM:616795
HP:0100543	Cognitive impairment	9907	AP5Z1	ORPHA:306511
HP:0100543	Cognitive impairment	64221	ROBO3	ORPHA:2744
HP:0100543	Cognitive impairment	1630	DCC	ORPHA:2744
HP:0100543	Cognitive impairment	9373	PLAA	OMIM:617527
HP:0100543	Cognitive impairment	284217	LAMA1	ORPHA:370022
HP:0100543	Cognitive impairment	79693	YRDC	ORPHA:2065
HP:0100543	Cognitive impairment	51002	TPRKB	ORPHA:2065
HP:0100543	Cognitive impairment	84942	WDR73	ORPHA:2065
HP:0100543	Cognitive impairment	55644	OSGEP	ORPHA:2065
HP:0100543	Cognitive impairment	57122	NUP107	ORPHA:2065
HP:0100543	Cognitive impairment	10785	WDR4	ORPHA:2065
HP:0100543	Cognitive impairment	55746	NUP133	ORPHA:2065
HP:0100543	Cognitive impairment	84520	GON7	ORPHA:2065
HP:0100543	Cognitive impairment	112858	TP53RK	ORPHA:2065
HP:0100543	Cognitive impairment	8270	LAGE3	ORPHA:2065
HP:0100543	Cognitive impairment	161742	SPRED1	ORPHA:137605
HP:0100543	Cognitive impairment	87178	PNPT1	OMIM:614934
HP:0002442	Dyscalculia	25978	CHMP2B	OMIM:600795
HP:0002442	Dyscalculia	25978	CHMP2B	ORPHA:275864
HP:0002442	Dyscalculia	2332	FMR1	ORPHA:449291
HP:0002442	Dyscalculia	1540	CYLD	OMIM:619132
HP:0002442	Dyscalculia	6736	SRY	ORPHA:1772
HP:0002442	Dyscalculia	5663	PSEN1	ORPHA:275864
HP:0002442	Dyscalculia	2896	GRN	ORPHA:275864
HP:0002442	Dyscalculia	54664	TMEM106B	ORPHA:275864
HP:0002442	Dyscalculia	8878	SQSTM1	ORPHA:275864
HP:0002442	Dyscalculia	8878	SQSTM1	ORPHA:275872
HP:0002442	Dyscalculia	4137	MAPT	ORPHA:275864
HP:0002442	Dyscalculia	54209	TREM2	ORPHA:275864
HP:0002442	Dyscalculia	7415	VCP	ORPHA:275864
HP:0002442	Dyscalculia	7415	VCP	ORPHA:275872
HP:0002442	Dyscalculia	7415	VCP	ORPHA:52430
HP:0002442	Dyscalculia	3708	ITPR1	OMIM:117360
HP:0002442	Dyscalculia	11284	PNKP	ORPHA:459033
HP:0002442	Dyscalculia	2521	FUS	ORPHA:275872
HP:0002442	Dyscalculia	23435	TARDBP	ORPHA:275872
HP:0002442	Dyscalculia	29110	TBK1	ORPHA:275872
HP:0002442	Dyscalculia	400916	CHCHD10	ORPHA:275872
HP:0002442	Dyscalculia	203228	C9orf72	OMIM:105550
HP:0002442	Dyscalculia	773	CACNA1A	OMIM:141500
HP:0002442	Dyscalculia	4131	MAP1B	OMIM:618918
HP:0002442	Dyscalculia	3178	HNRNPA1	ORPHA:52430
HP:0002442	Dyscalculia	3181	HNRNPA2B1	ORPHA:52430
HP:0002442	Dyscalculia	64324	NSD1	ORPHA:821
HP:0002442	Dyscalculia	10297	APC2	ORPHA:821
HP:0012286	Abnormal hypothalamus morphology	2737	GLI3	ORPHA:672
HP:0012286	Abnormal hypothalamus morphology	2737	GLI3	OMIM:146510
HP:0012286	Abnormal hypothalamus morphology	8481	OFD1	OMIM:311200
HP:0012286	Abnormal hypothalamus morphology	8481	OFD1	ORPHA:2754
HP:0012286	Abnormal hypothalamus morphology	6608	SMO	OMIM:241800
HP:0012286	Abnormal hypothalamus morphology	64601	VPS16	OMIM:619291
HP:0012286	Abnormal hypothalamus morphology	4990	SIX6	OMIM:206900
HP:0012286	Abnormal hypothalamus morphology	6657	SOX2	OMIM:206900
HP:0012286	Abnormal hypothalamus morphology	4123	MAN2C1	OMIM:619775
HP:0012286	Abnormal hypothalamus morphology	65250	CPLANE1	OMIM:277170
HP:0012286	Abnormal hypothalamus morphology	65250	CPLANE1	ORPHA:2754
HP:0012286	Abnormal hypothalamus morphology	7074	TIAM1	OMIM:619908
HP:0012286	Abnormal hypothalamus morphology	79583	TMEM231	ORPHA:2754
HP:0012286	Abnormal hypothalamus morphology	10210	TOPORS	ORPHA:2754
HP:0012286	Abnormal hypothalamus morphology	9851	KIAA0753	ORPHA:2754
HP:0012286	Abnormal hypothalamus morphology	26123	TCTN3	ORPHA:2754
HP:0012286	Abnormal hypothalamus morphology	5147	PDE6D	ORPHA:2754
HP:0012286	Abnormal hypothalamus morphology	51259	TMEM216	ORPHA:2754
HP:0012286	Abnormal hypothalamus morphology	317662	FAM149B1	ORPHA:2754
HP:0012286	Abnormal hypothalamus morphology	374654	KIF7	ORPHA:2754
HP:0012286	Abnormal hypothalamus morphology	3953	LEPR	OMIM:614963
HP:0012286	Abnormal hypothalamus morphology	1499	CTNNB1	ORPHA:54595
HP:0012286	Abnormal hypothalamus morphology	673	BRAF	ORPHA:54595
HP:0012286	Abnormal hypothalamus morphology	80208	SPG11	ORPHA:2822
HP:0012286	Abnormal hypothalamus morphology	1000	CDH2	OMIM:618929
HP:0002444	Hypothalamic hamartoma	2737	GLI3	ORPHA:672
HP:0002444	Hypothalamic hamartoma	2737	GLI3	OMIM:146510
HP:0002444	Hypothalamic hamartoma	8481	OFD1	OMIM:311200
HP:0002444	Hypothalamic hamartoma	8481	OFD1	ORPHA:2754
HP:0002444	Hypothalamic hamartoma	6608	SMO	OMIM:241800
HP:0002444	Hypothalamic hamartoma	64601	VPS16	OMIM:619291
HP:0002444	Hypothalamic hamartoma	4990	SIX6	OMIM:206900
HP:0002444	Hypothalamic hamartoma	6657	SOX2	OMIM:206900
HP:0002444	Hypothalamic hamartoma	4123	MAN2C1	OMIM:619775
HP:0002444	Hypothalamic hamartoma	65250	CPLANE1	OMIM:277170
HP:0002444	Hypothalamic hamartoma	65250	CPLANE1	ORPHA:2754
HP:0002444	Hypothalamic hamartoma	7074	TIAM1	OMIM:619908
HP:0002444	Hypothalamic hamartoma	79583	TMEM231	ORPHA:2754
HP:0002444	Hypothalamic hamartoma	10210	TOPORS	ORPHA:2754
HP:0002444	Hypothalamic hamartoma	9851	KIAA0753	ORPHA:2754
HP:0002444	Hypothalamic hamartoma	26123	TCTN3	ORPHA:2754
HP:0002444	Hypothalamic hamartoma	5147	PDE6D	ORPHA:2754
HP:0002444	Hypothalamic hamartoma	51259	TMEM216	ORPHA:2754
HP:0002444	Hypothalamic hamartoma	317662	FAM149B1	ORPHA:2754
HP:0002444	Hypothalamic hamartoma	374654	KIF7	ORPHA:2754
HP:0002445	Tetraplegia	6904	TBCD	ORPHA:496641
HP:0002445	Tetraplegia	4702	NDUFA8	OMIM:619272
HP:0002445	Tetraplegia	10134	BCAP31	OMIM:300475
HP:0002445	Tetraplegia	10134	BCAP31	ORPHA:369939
HP:0002445	Tetraplegia	5832	ALDH18A1	OMIM:616586
HP:0002445	Tetraplegia	5832	ALDH18A1	ORPHA:447760
HP:0002445	Tetraplegia	11284	PNKP	OMIM:616267
HP:0002445	Tetraplegia	4509	MT-ATP8	ORPHA:254913
HP:0002445	Tetraplegia	514	ATP5F1E	ORPHA:254913
HP:0002445	Tetraplegia	513	ATP5F1D	ORPHA:254913
HP:0002445	Tetraplegia	498	ATP5F1A	ORPHA:254913
HP:0002445	Tetraplegia	4508	MT-ATP6	ORPHA:254913
HP:0002445	Tetraplegia	84833	ATP5MK	ORPHA:254913
HP:0002445	Tetraplegia	91647	ATPAF2	ORPHA:254913
HP:0002445	Tetraplegia	57679	ALS2	ORPHA:293168
HP:0002445	Tetraplegia	57679	ALS2	OMIM:607225
HP:0002445	Tetraplegia	5631	PRPS1	ORPHA:1187
HP:0002445	Tetraplegia	5631	PRPS1	OMIM:301835
HP:0002445	Tetraplegia	478	ATP1A3	OMIM:614820
HP:0002445	Tetraplegia	2260	FGFR1	ORPHA:2396
HP:0002445	Tetraplegia	3845	KRAS	ORPHA:2396
HP:0002445	Tetraplegia	5048	PAFAH1B1	ORPHA:95232
HP:0002445	Tetraplegia	22845	DOLK	OMIM:610768
HP:0002445	Tetraplegia	100134444	KCNJ18	ORPHA:79102
HP:0002445	Tetraplegia	2556	GABRA3	ORPHA:79102
HP:0002445	Tetraplegia	779	CACNA1S	ORPHA:79102
HP:0002445	Tetraplegia	701	BUB1B	OMIM:257300
HP:0002445	Tetraplegia	5903	RANBP2	OMIM:608033
HP:0002445	Tetraplegia	5551	PRF1	OMIM:603553
HP:0002445	Tetraplegia	56246	MRAP	ORPHA:361
HP:0002445	Tetraplegia	6770	STAR	ORPHA:361
HP:0002445	Tetraplegia	4158	MC2R	ORPHA:361
HP:0002445	Tetraplegia	23530	NNT	ORPHA:361
HP:0002445	Tetraplegia	10587	TXNRD2	ORPHA:361
HP:0002445	Tetraplegia	2581	GALC	ORPHA:206443
HP:0002445	Tetraplegia	54828	BCAS3	OMIM:619641
HP:0002445	Tetraplegia	374354	NHLRC2	OMIM:618278
HP:0002445	Tetraplegia	170302	ARX	OMIM:300004
HP:0002445	Tetraplegia	170302	ARX	ORPHA:2508
HP:0002445	Tetraplegia	5277	PIGA	OMIM:300868
HP:0002445	Tetraplegia	133686	NADK2	OMIM:616034
HP:0002445	Tetraplegia	51693	TRAPPC2L	OMIM:618331
HP:0002445	Tetraplegia	1806	DPYD	OMIM:274270
HP:0002445	Tetraplegia	9131	AIFM1	OMIM:300816
HP:0002445	Tetraplegia	64135	IFIH1	OMIM:615846
HP:0002445	Tetraplegia	10342	TFG	OMIM:604484
HP:0002445	Tetraplegia	57582	KCNT1	OMIM:614959
HP:0002445	Tetraplegia	78987	CRELD1	OMIM:620771
HP:0002445	Tetraplegia	410	ARSA	OMIM:250100
HP:0002445	Tetraplegia	477	ATP1A2	OMIM:104290
HP:0002446	Astrocytosis	5621	PRNP	ORPHA:282166
HP:0002446	Astrocytosis	25978	CHMP2B	OMIM:600795
HP:0002446	Astrocytosis	25978	CHMP2B	ORPHA:275864
HP:0002446	Astrocytosis	25978	CHMP2B	ORPHA:100070
HP:0002446	Astrocytosis	4137	MAPT	OMIM:601104
HP:0002446	Astrocytosis	4137	MAPT	ORPHA:275864
HP:0002446	Astrocytosis	4137	MAPT	ORPHA:100070
HP:0002446	Astrocytosis	4508	MT-ATP6	ORPHA:225154
HP:0002446	Astrocytosis	23636	NUP62	ORPHA:225154
HP:0002446	Astrocytosis	53371	NUP54	ORPHA:225154
HP:0002446	Astrocytosis	103	ADAR	ORPHA:225154
HP:0002446	Astrocytosis	55532	SLC30A10	ORPHA:309854
HP:0002446	Astrocytosis	92335	STRADA	OMIM:611087
HP:0002446	Astrocytosis	1161	ERCC8	ORPHA:90324
HP:0002446	Astrocytosis	2074	ERCC6	ORPHA:90324
HP:0002446	Astrocytosis	5663	PSEN1	ORPHA:275864
HP:0002446	Astrocytosis	5663	PSEN1	ORPHA:100070
HP:0002446	Astrocytosis	2896	GRN	ORPHA:275864
HP:0002446	Astrocytosis	2896	GRN	ORPHA:100070
HP:0002446	Astrocytosis	54664	TMEM106B	ORPHA:275864
HP:0002446	Astrocytosis	54664	TMEM106B	ORPHA:100070
HP:0002446	Astrocytosis	8878	SQSTM1	ORPHA:275864
HP:0002446	Astrocytosis	54209	TREM2	ORPHA:275864
HP:0002446	Astrocytosis	54209	TREM2	ORPHA:100070
HP:0002446	Astrocytosis	7415	VCP	ORPHA:275864
HP:0002446	Astrocytosis	7415	VCP	ORPHA:100070
HP:0002446	Astrocytosis	5428	POLG	OMIM:203700
HP:0002446	Astrocytosis	3908	LAMA2	ORPHA:258
HP:0002446	Astrocytosis	2475	MTOR	OMIM:607341
HP:0002446	Astrocytosis	7248	TSC1	OMIM:607341
HP:0002446	Astrocytosis	7249	TSC2	OMIM:607341
HP:0002448	Progressive encephalopathy	5428	POLG	ORPHA:254881
HP:0002448	Progressive encephalopathy	5654	HTRA1	OMIM:600142
HP:0002448	Progressive encephalopathy	133686	NADK2	ORPHA:431361
HP:0002448	Progressive encephalopathy	26580	BSCL2	ORPHA:363400
HP:0002448	Progressive encephalopathy	11152	WDR45	ORPHA:329284
HP:0002448	Progressive encephalopathy	11277	TREX1	OMIM:225750
HP:0002448	Progressive encephalopathy	9256	TSPOAP1	ORPHA:101150
HP:0002448	Progressive encephalopathy	7054	TH	ORPHA:101150
HP:0002448	Progressive encephalopathy	8942	KYNU	ORPHA:79155
HP:0002448	Progressive encephalopathy	132158	GLYCTK	ORPHA:941
HP:0002448	Progressive encephalopathy	8803	SUCLA2	OMIM:612073
HP:0002448	Progressive encephalopathy	6905	TBCE	ORPHA:496756
HP:0008947	Infantile muscular hypotonia	388015	RTL1	ORPHA:254531
HP:0008947	Infantile muscular hypotonia	8788	DLK1	ORPHA:254531
HP:0008947	Infantile muscular hypotonia	55384	MEG3	ORPHA:254531
HP:0008947	Infantile muscular hypotonia	11253	MAN1B1	ORPHA:397941
HP:0008947	Infantile muscular hypotonia	23394	ADNP	ORPHA:404448
HP:0008947	Infantile muscular hypotonia	91574	MTRFR	ORPHA:254930
HP:0008947	Infantile muscular hypotonia	10466	COG5	ORPHA:263487
HP:0008947	Infantile muscular hypotonia	8367	H4C5	OMIM:619950
HP:0008947	Infantile muscular hypotonia	6477	SIAH1	OMIM:619314
HP:0008947	Infantile muscular hypotonia	7355	SLC35A2	ORPHA:356961
HP:0008947	Infantile muscular hypotonia	253738	EBF3	ORPHA:96148
HP:0008947	Infantile muscular hypotonia	253738	EBF3	OMIM:617330
HP:0008947	Infantile muscular hypotonia	7138	TNNT1	OMIM:620389
HP:0008947	Infantile muscular hypotonia	1788	DNMT3A	ORPHA:404443
HP:0008947	Infantile muscular hypotonia	22845	DOLK	ORPHA:91131
HP:0008947	Infantile muscular hypotonia	546	ATRX	OMIM:301040
HP:0008947	Infantile muscular hypotonia	546	ATRX	OMIM:309580
HP:0008947	Infantile muscular hypotonia	132158	GLYCTK	ORPHA:941
HP:0008947	Infantile muscular hypotonia	4758	NEU1	ORPHA:93399
HP:0008947	Infantile muscular hypotonia	23126	POGZ	ORPHA:468678
HP:0008947	Infantile muscular hypotonia	1605	DAG1	ORPHA:370997
HP:0008947	Infantile muscular hypotonia	4535	MT-ND1	ORPHA:255210
HP:0008947	Infantile muscular hypotonia	4536	MT-ND2	ORPHA:255210
HP:0008947	Infantile muscular hypotonia	4537	MT-ND3	ORPHA:255210
HP:0008947	Infantile muscular hypotonia	4538	MT-ND4	ORPHA:255210
HP:0008947	Infantile muscular hypotonia	4567	MT-TL1	ORPHA:255210
HP:0008947	Infantile muscular hypotonia	4567	MT-TL1	ORPHA:324525
HP:0008947	Infantile muscular hypotonia	4578	MT-TW	ORPHA:255210
HP:0008947	Infantile muscular hypotonia	4577	MT-TV	ORPHA:255210
HP:0008947	Infantile muscular hypotonia	4508	MT-ATP6	ORPHA:255210
HP:0008947	Infantile muscular hypotonia	4508	MT-ATP6	ORPHA:225154
HP:0008947	Infantile muscular hypotonia	4540	MT-ND5	ORPHA:255210
HP:0008947	Infantile muscular hypotonia	4541	MT-ND6	ORPHA:255210
HP:0008947	Infantile muscular hypotonia	4566	MT-TK	ORPHA:255210
HP:0008947	Infantile muscular hypotonia	10743	RAI1	ORPHA:477817
HP:0008947	Infantile muscular hypotonia	3481	IGF2	ORPHA:231144
HP:0008947	Infantile muscular hypotonia	283120	H19	ORPHA:231144
HP:0008947	Infantile muscular hypotonia	113179	ADAT3	ORPHA:363528
HP:0008947	Infantile muscular hypotonia	2782	GNB1	ORPHA:488613
HP:0008947	Infantile muscular hypotonia	10157	AASS	ORPHA:2203
HP:0008947	Infantile muscular hypotonia	6492	SIM1	ORPHA:398079
HP:0008947	Infantile muscular hypotonia	8085	KMT2D	ORPHA:2322
HP:0008947	Infantile muscular hypotonia	7403	KDM6A	ORPHA:2322
HP:0008947	Infantile muscular hypotonia	112939	NACC1	ORPHA:500545
HP:0008947	Infantile muscular hypotonia	1363	CPE	OMIM:619326
HP:0008947	Infantile muscular hypotonia	55780	ERMARD	ORPHA:75857
HP:0008947	Infantile muscular hypotonia	2720	GLB1	ORPHA:79255
HP:0008947	Infantile muscular hypotonia	4204	MECP2	ORPHA:778
HP:0008947	Infantile muscular hypotonia	4204	MECP2	OMIM:300260
HP:0008947	Infantile muscular hypotonia	6904	TBCD	ORPHA:496641
HP:0008947	Infantile muscular hypotonia	29925	GMPPB	ORPHA:370968
HP:0008947	Infantile muscular hypotonia	79147	FKRP	ORPHA:370968
HP:0008947	Infantile muscular hypotonia	29954	POMT2	ORPHA:370968
HP:0008947	Infantile muscular hypotonia	9215	LARGE1	ORPHA:370968
HP:0008947	Infantile muscular hypotonia	10585	POMT1	ORPHA:370968
HP:0008947	Infantile muscular hypotonia	7337	UBE3A	ORPHA:98794
HP:0008947	Infantile muscular hypotonia	7337	UBE3A	ORPHA:98795
HP:0008947	Infantile muscular hypotonia	7337	UBE3A	ORPHA:411511
HP:0008947	Infantile muscular hypotonia	7337	UBE3A	ORPHA:411515
HP:0008947	Infantile muscular hypotonia	4948	OCA2	ORPHA:98794
HP:0008947	Infantile muscular hypotonia	427	ASAH1	ORPHA:333
HP:0008947	Infantile muscular hypotonia	56992	KIF15	ORPHA:261323
HP:0008947	Infantile muscular hypotonia	84992	PIGY	ORPHA:247262
HP:0008947	Infantile muscular hypotonia	84720	PIGO	ORPHA:247262
HP:0008947	Infantile muscular hypotonia	93210	PGAP3	ORPHA:247262
HP:0008947	Infantile muscular hypotonia	284098	PIGW	ORPHA:247262
HP:0008947	Infantile muscular hypotonia	27315	PGAP2	ORPHA:247262
HP:0008947	Infantile muscular hypotonia	55650	PIGV	ORPHA:247262
HP:0008947	Infantile muscular hypotonia	9487	PIGL	ORPHA:247262
HP:0008947	Infantile muscular hypotonia	347733	TUBB2B	ORPHA:300573
HP:0008947	Infantile muscular hypotonia	166378	AFG2A	ORPHA:457351
HP:0008947	Infantile muscular hypotonia	1757	SARDH	ORPHA:3129
HP:0008947	Infantile muscular hypotonia	6597	SMARCA4	ORPHA:1465
HP:0008947	Infantile muscular hypotonia	6598	SMARCB1	ORPHA:1465
HP:0008947	Infantile muscular hypotonia	6659	SOX4	ORPHA:1465
HP:0008947	Infantile muscular hypotonia	8289	ARID1A	ORPHA:1465
HP:0008947	Infantile muscular hypotonia	5977	DPF2	ORPHA:1465
HP:0008947	Infantile muscular hypotonia	6601	SMARCC2	ORPHA:1465
HP:0008947	Infantile muscular hypotonia	6602	SMARCD1	ORPHA:1465
HP:0008947	Infantile muscular hypotonia	57492	ARID1B	ORPHA:1465
HP:0008947	Infantile muscular hypotonia	196528	ARID2	ORPHA:1465
HP:0008947	Infantile muscular hypotonia	6605	SMARCE1	ORPHA:1465
HP:0008947	Infantile muscular hypotonia	6664	SOX11	ORPHA:1465
HP:0008947	Infantile muscular hypotonia	23545	ATP6V0A2	ORPHA:2834
HP:0008947	Infantile muscular hypotonia	23545	ATP6V0A2	ORPHA:357074
HP:0008947	Infantile muscular hypotonia	54551	MAGEL2	ORPHA:398069
HP:0008947	Infantile muscular hypotonia	1183	CLCN4	ORPHA:485350
HP:0008947	Infantile muscular hypotonia	7080	NKX2-1	ORPHA:209905
HP:0008947	Infantile muscular hypotonia	3767	KCNJ11	ORPHA:79644
HP:0008947	Infantile muscular hypotonia	6821	SUOX	OMIM:272300
HP:0008947	Infantile muscular hypotonia	8802	SUCLG1	OMIM:245400
HP:0008947	Infantile muscular hypotonia	8802	SUCLG1	ORPHA:17
HP:0008947	Infantile muscular hypotonia	2261	FGFR3	ORPHA:15
HP:0008947	Infantile muscular hypotonia	2261	FGFR3	OMIM:100800
HP:0008947	Infantile muscular hypotonia	191	AHCY	ORPHA:88618
HP:0008947	Infantile muscular hypotonia	9839	ZEB2	ORPHA:261552
HP:0008947	Infantile muscular hypotonia	9839	ZEB2	ORPHA:261537
HP:0008947	Infantile muscular hypotonia	84342	COG8	OMIM:611182
HP:0008947	Infantile muscular hypotonia	84342	COG8	ORPHA:95428
HP:0008947	Infantile muscular hypotonia	2903	GRIN2A	ORPHA:289266
HP:0008947	Infantile muscular hypotonia	4041	LRP5	ORPHA:2788
HP:0008947	Infantile muscular hypotonia	10352	WARS2	ORPHA:572798
HP:0008947	Infantile muscular hypotonia	28514	DLL1	ORPHA:93926
HP:0008947	Infantile muscular hypotonia	28514	DLL1	ORPHA:93924
HP:0008947	Infantile muscular hypotonia	28514	DLL1	ORPHA:93925
HP:0008947	Infantile muscular hypotonia	28514	DLL1	ORPHA:220386
HP:0008947	Infantile muscular hypotonia	2253	FGF8	ORPHA:93926
HP:0008947	Infantile muscular hypotonia	2253	FGF8	ORPHA:93924
HP:0008947	Infantile muscular hypotonia	2253	FGF8	ORPHA:93925
HP:0008947	Infantile muscular hypotonia	2253	FGF8	ORPHA:220386
HP:0008947	Infantile muscular hypotonia	6496	SIX3	ORPHA:93926
HP:0008947	Infantile muscular hypotonia	6496	SIX3	ORPHA:93924
HP:0008947	Infantile muscular hypotonia	6496	SIX3	ORPHA:93925
HP:0008947	Infantile muscular hypotonia	6496	SIX3	ORPHA:220386
HP:0008947	Infantile muscular hypotonia	7050	TGIF1	ORPHA:93926
HP:0008947	Infantile muscular hypotonia	7050	TGIF1	ORPHA:93924
HP:0008947	Infantile muscular hypotonia	7050	TGIF1	ORPHA:93925
HP:0008947	Infantile muscular hypotonia	7050	TGIF1	ORPHA:220386
HP:0008947	Infantile muscular hypotonia	4838	NODAL	ORPHA:93926
HP:0008947	Infantile muscular hypotonia	4838	NODAL	ORPHA:93924
HP:0008947	Infantile muscular hypotonia	4838	NODAL	ORPHA:93925
HP:0008947	Infantile muscular hypotonia	4838	NODAL	ORPHA:220386
HP:0008947	Infantile muscular hypotonia	6469	SHH	ORPHA:93926
HP:0008947	Infantile muscular hypotonia	6469	SHH	ORPHA:93924
HP:0008947	Infantile muscular hypotonia	6469	SHH	ORPHA:93925
HP:0008947	Infantile muscular hypotonia	6469	SHH	ORPHA:220386
HP:0008947	Infantile muscular hypotonia	7546	ZIC2	ORPHA:93926
HP:0008947	Infantile muscular hypotonia	7546	ZIC2	ORPHA:93924
HP:0008947	Infantile muscular hypotonia	7546	ZIC2	ORPHA:93925
HP:0008947	Infantile muscular hypotonia	7546	ZIC2	ORPHA:220386
HP:0008947	Infantile muscular hypotonia	6491	STIL	ORPHA:93926
HP:0008947	Infantile muscular hypotonia	6491	STIL	ORPHA:93924
HP:0008947	Infantile muscular hypotonia	6491	STIL	ORPHA:93925
HP:0008947	Infantile muscular hypotonia	6491	STIL	ORPHA:220386
HP:0008947	Infantile muscular hypotonia	2619	GAS1	ORPHA:93926
HP:0008947	Infantile muscular hypotonia	2619	GAS1	ORPHA:93924
HP:0008947	Infantile muscular hypotonia	2619	GAS1	ORPHA:93925
HP:0008947	Infantile muscular hypotonia	2619	GAS1	ORPHA:220386
HP:0008947	Infantile muscular hypotonia	84976	DISP1	ORPHA:93926
HP:0008947	Infantile muscular hypotonia	84976	DISP1	ORPHA:93924
HP:0008947	Infantile muscular hypotonia	84976	DISP1	ORPHA:93925
HP:0008947	Infantile muscular hypotonia	84976	DISP1	ORPHA:220386
HP:0008947	Infantile muscular hypotonia	2736	GLI2	ORPHA:93926
HP:0008947	Infantile muscular hypotonia	2736	GLI2	ORPHA:93924
HP:0008947	Infantile muscular hypotonia	2736	GLI2	ORPHA:93925
HP:0008947	Infantile muscular hypotonia	2736	GLI2	ORPHA:220386
HP:0008947	Infantile muscular hypotonia	8928	FOXH1	ORPHA:93926
HP:0008947	Infantile muscular hypotonia	8928	FOXH1	ORPHA:93924
HP:0008947	Infantile muscular hypotonia	8928	FOXH1	ORPHA:93925
HP:0008947	Infantile muscular hypotonia	8928	FOXH1	ORPHA:220386
HP:0008947	Infantile muscular hypotonia	6997	CRIPTO	ORPHA:93926
HP:0008947	Infantile muscular hypotonia	6997	CRIPTO	ORPHA:93924
HP:0008947	Infantile muscular hypotonia	6997	CRIPTO	ORPHA:93925
HP:0008947	Infantile muscular hypotonia	6997	CRIPTO	ORPHA:220386
HP:0008947	Infantile muscular hypotonia	5727	PTCH1	ORPHA:93926
HP:0008947	Infantile muscular hypotonia	5727	PTCH1	ORPHA:93924
HP:0008947	Infantile muscular hypotonia	5727	PTCH1	ORPHA:93925
HP:0008947	Infantile muscular hypotonia	5727	PTCH1	ORPHA:220386
HP:0008947	Infantile muscular hypotonia	50937	CDON	ORPHA:93926
HP:0008947	Infantile muscular hypotonia	50937	CDON	ORPHA:93924
HP:0008947	Infantile muscular hypotonia	50937	CDON	ORPHA:93925
HP:0008947	Infantile muscular hypotonia	50937	CDON	ORPHA:220386
HP:0008947	Infantile muscular hypotonia	2260	FGFR1	ORPHA:93924
HP:0008947	Infantile muscular hypotonia	2260	FGFR1	ORPHA:220386
HP:0008947	Infantile muscular hypotonia	23007	PLCH1	ORPHA:93925
HP:0008947	Infantile muscular hypotonia	10735	STAG2	ORPHA:93925
HP:0008947	Infantile muscular hypotonia	10735	STAG2	ORPHA:220386
HP:0008947	Infantile muscular hypotonia	526	ATP6V1B2	ORPHA:3473
HP:0008947	Infantile muscular hypotonia	526	ATP6V1B2	ORPHA:79500
HP:0008947	Infantile muscular hypotonia	3756	KCNH1	ORPHA:3473
HP:0008947	Infantile muscular hypotonia	3782	KCNN3	ORPHA:3473
HP:0008947	Infantile muscular hypotonia	54496	PRMT7	ORPHA:464288
HP:0008947	Infantile muscular hypotonia	54658	UGT1A1	ORPHA:79234
HP:0008947	Infantile muscular hypotonia	1798	DPAGT1	ORPHA:86309
HP:0008947	Infantile muscular hypotonia	9056	SLC7A7	ORPHA:470
HP:0008947	Infantile muscular hypotonia	6611	SMS	ORPHA:3063
HP:0008947	Infantile muscular hypotonia	998	CDC42	ORPHA:487796
HP:0008947	Infantile muscular hypotonia	8239	USP9X	ORPHA:480880
HP:0008947	Infantile muscular hypotonia	9894	TELO2	ORPHA:488642
HP:0008947	Infantile muscular hypotonia	259232	NALCN	ORPHA:371364
HP:0008947	Infantile muscular hypotonia	285175	UNC80	ORPHA:371364
HP:0008947	Infantile muscular hypotonia	9091	PIGQ	OMIM:618548
HP:0008947	Infantile muscular hypotonia	9091	PIGQ	ORPHA:1934
HP:0008947	Infantile muscular hypotonia	9289	ADGRG1	ORPHA:98889
HP:0008947	Infantile muscular hypotonia	5297	PI4KA	ORPHA:98889
HP:0008947	Infantile muscular hypotonia	27286	SRPX2	ORPHA:98889
HP:0008947	Infantile muscular hypotonia	6134	RPL10	ORPHA:459070
HP:0008947	Infantile muscular hypotonia	6335	SCN9A	ORPHA:33069
HP:0008947	Infantile muscular hypotonia	6326	SCN2A	ORPHA:33069
HP:0008947	Infantile muscular hypotonia	6326	SCN2A	ORPHA:1934
HP:0008947	Infantile muscular hypotonia	2554	GABRA1	ORPHA:33069
HP:0008947	Infantile muscular hypotonia	6323	SCN1A	ORPHA:33069
HP:0008947	Infantile muscular hypotonia	6324	SCN1B	ORPHA:33069
HP:0008947	Infantile muscular hypotonia	6324	SCN1B	ORPHA:1934
HP:0008947	Infantile muscular hypotonia	57526	PCDH19	ORPHA:33069
HP:0008947	Infantile muscular hypotonia	2566	GABRG2	ORPHA:33069
HP:0008947	Infantile muscular hypotonia	57465	TBC1D24	ORPHA:79500
HP:0008947	Infantile muscular hypotonia	7343	UBTF	ORPHA:500180
HP:0008947	Infantile muscular hypotonia	57459	GATAD2B	ORPHA:363686
HP:0008947	Infantile muscular hypotonia	4094	MAF	ORPHA:1272
HP:0008947	Infantile muscular hypotonia	6857	SYT1	ORPHA:522077
HP:0008947	Infantile muscular hypotonia	440138	ALG11	ORPHA:280071
HP:0008947	Infantile muscular hypotonia	2548	GAA	ORPHA:308552
HP:0008947	Infantile muscular hypotonia	1289	COL5A1	OMIM:130000
HP:0008947	Infantile muscular hypotonia	1806	DPYD	ORPHA:1675
HP:0008947	Infantile muscular hypotonia	79633	FAT4	ORPHA:314679
HP:0008947	Infantile muscular hypotonia	8642	DCHS1	ORPHA:314679
HP:0008947	Infantile muscular hypotonia	7841	MOGS	ORPHA:79330
HP:0008947	Infantile muscular hypotonia	2683	B4GALT1	ORPHA:79332
HP:0008947	Infantile muscular hypotonia	10522	DEAF1	ORPHA:468620
HP:0008947	Infantile muscular hypotonia	2593	GAMT	OMIM:612736
HP:0008947	Infantile muscular hypotonia	84628	NTNG2	OMIM:618718
HP:0008947	Infantile muscular hypotonia	23314	SATB2	ORPHA:576283
HP:0008947	Infantile muscular hypotonia	8573	CASK	ORPHA:163937
HP:0008947	Infantile muscular hypotonia	8573	CASK	ORPHA:1934
HP:0008947	Infantile muscular hypotonia	23636	NUP62	ORPHA:225154
HP:0008947	Infantile muscular hypotonia	53371	NUP54	ORPHA:225154
HP:0008947	Infantile muscular hypotonia	103	ADAR	ORPHA:225154
HP:0008947	Infantile muscular hypotonia	523	ATP6V1A	ORPHA:357074
HP:0008947	Infantile muscular hypotonia	529	ATP6V1E1	ORPHA:357074
HP:0008947	Infantile muscular hypotonia	6651	SON	ORPHA:500150
HP:0008947	Infantile muscular hypotonia	8218	CLTCL1	ORPHA:453510
HP:0008947	Infantile muscular hypotonia	650	BMP2	OMIM:617877
HP:0008947	Infantile muscular hypotonia	8243	SMC1A	ORPHA:220386
HP:0008947	Infantile muscular hypotonia	5194	PEX13	OMIM:614883
HP:0008947	Infantile muscular hypotonia	7317	UBA1	ORPHA:1145
HP:0008947	Infantile muscular hypotonia	5879	RAC1	ORPHA:500159
HP:0008947	Infantile muscular hypotonia	162417	NAGS	ORPHA:927
HP:0008947	Infantile muscular hypotonia	83737	ITCH	ORPHA:228426
HP:0008947	Infantile muscular hypotonia	8813	DPM1	ORPHA:79322
HP:0008947	Infantile muscular hypotonia	4750	NEK1	ORPHA:2751
HP:0008947	Infantile muscular hypotonia	9526	MPDU1	ORPHA:79323
HP:0008947	Infantile muscular hypotonia	37	ACADVL	ORPHA:26793
HP:0008947	Infantile muscular hypotonia	79644	SRD5A3	ORPHA:324737
HP:0008947	Infantile muscular hypotonia	23040	MYT1L	ORPHA:647799
HP:0008947	Infantile muscular hypotonia	60684	TRAPPC11	ORPHA:369840
HP:0008947	Infantile muscular hypotonia	60684	TRAPPC11	ORPHA:369847
HP:0008947	Infantile muscular hypotonia	80704	SLC19A3	ORPHA:263410
HP:0008947	Infantile muscular hypotonia	9968	MED12	ORPHA:293707
HP:0008947	Infantile muscular hypotonia	55280	CWF19L1	ORPHA:453521
HP:0008947	Infantile muscular hypotonia	35	ACADS	ORPHA:26792
HP:0008947	Infantile muscular hypotonia	55690	PACS1	ORPHA:329224
HP:0008947	Infantile muscular hypotonia	7227	TRPS1	OMIM:190350
HP:0008947	Infantile muscular hypotonia	6638	SNRPN	ORPHA:411515
HP:0008947	Infantile muscular hypotonia	57194	ATP10A	ORPHA:411515
HP:0008947	Infantile muscular hypotonia	6792	CDKL5	ORPHA:1934
HP:0008947	Infantile muscular hypotonia	3736	KCNA1	ORPHA:1934
HP:0008947	Infantile muscular hypotonia	140679	SLC32A1	ORPHA:1934
HP:0008947	Infantile muscular hypotonia	2775	GNAO1	ORPHA:1934
HP:0008947	Infantile muscular hypotonia	81603	TRIM8	ORPHA:1934
HP:0008947	Infantile muscular hypotonia	2902	GRIN1	ORPHA:1934
HP:0008947	Infantile muscular hypotonia	79751	SLC25A22	ORPHA:1934
HP:0008947	Infantile muscular hypotonia	150094	SIK1	ORPHA:1934
HP:0008947	Infantile muscular hypotonia	23312	DMXL2	ORPHA:1934
HP:0008947	Infantile muscular hypotonia	2917	GRM7	ORPHA:1934
HP:0008947	Infantile muscular hypotonia	170302	ARX	ORPHA:1934
HP:0008947	Infantile muscular hypotonia	11284	PNKP	ORPHA:1934
HP:0008947	Infantile muscular hypotonia	51227	PIGP	ORPHA:1934
HP:0008947	Infantile muscular hypotonia	4761	NEUROD2	ORPHA:1934
HP:0008947	Infantile muscular hypotonia	84705	GTPBP3	ORPHA:444013
HP:0008947	Infantile muscular hypotonia	80816	ASXL3	ORPHA:352577
HP:0008947	Infantile muscular hypotonia	2137	EXTL3	ORPHA:508533
HP:0008947	Infantile muscular hypotonia	84340	GFM2	ORPHA:565624
HP:0008947	Infantile muscular hypotonia	3074	HEXB	ORPHA:309155
HP:0008947	Infantile muscular hypotonia	815	CAMK2A	OMIM:617798
HP:0008947	Infantile muscular hypotonia	10381	TUBB3	ORPHA:300570
HP:0008947	Infantile muscular hypotonia	2581	GALC	ORPHA:206436
HP:0008947	Infantile muscular hypotonia	5660	PSAP	ORPHA:206436
HP:0008947	Infantile muscular hypotonia	2671	GFER	ORPHA:330054
HP:0008947	Infantile muscular hypotonia	25914	RTTN	ORPHA:468631
HP:0008947	Infantile muscular hypotonia	4125	MAN2B1	ORPHA:309282
HP:0008947	Infantile muscular hypotonia	29968	PSAT1	ORPHA:284417
HP:0008947	Infantile muscular hypotonia	6261	RYR1	ORPHA:424107
HP:0008947	Infantile muscular hypotonia	2760	GM2A	ORPHA:309246
HP:0008947	Infantile muscular hypotonia	5917	RARS1	ORPHA:438114
HP:0008947	Infantile muscular hypotonia	283989	TSEN54	ORPHA:2524
HP:0008947	Infantile muscular hypotonia	116461	TSEN15	ORPHA:2524
HP:0008947	Infantile muscular hypotonia	79042	TSEN34	ORPHA:2524
HP:0008947	Infantile muscular hypotonia	80746	TSEN2	ORPHA:2524
HP:0008947	Infantile muscular hypotonia	51091	SEPSECS	ORPHA:2524
HP:0008947	Infantile muscular hypotonia	56947	MFF	ORPHA:485421
HP:0008947	Infantile muscular hypotonia	58497	PRUNE1	ORPHA:544469
HP:0008947	Infantile muscular hypotonia	5081	PAX7	OMIM:618578
HP:0008947	Infantile muscular hypotonia	23516	SLC39A14	ORPHA:521406
HP:0008947	Infantile muscular hypotonia	267010	RNU12	ORPHA:512260
HP:0010999	Aplasia of the optic tract	652	BMP4	OMIM:607932
HP:0009778	Short thumb	90459	ERI1	OMIM:620662
HP:0009778	Short thumb	6885	MAP3K7	ORPHA:1826
HP:0009778	Short thumb	5293	PIK3CD	ORPHA:221139
HP:0009778	Short thumb	90417	KNSTRN	ORPHA:221139
HP:0009778	Short thumb	2778	GNAS	ORPHA:79445
HP:0009778	Short thumb	5727	PTCH1	OMIM:109400
HP:0009778	Short thumb	3756	KCNH1	ORPHA:420561
HP:0009778	Short thumb	1280	COL2A1	OMIM:271700
HP:0009778	Short thumb	10262	SF3B4	OMIM:154400
HP:0009778	Short thumb	100151683	RNU4ATAC	OMIM:210710
HP:0009778	Short thumb	2263	FGFR2	OMIM:149730
HP:0009778	Short thumb	2263	FGFR2	ORPHA:2363
HP:0009778	Short thumb	23028	KDM1A	OMIM:616728
HP:0009778	Short thumb	23028	KDM1A	ORPHA:477993
HP:0009778	Short thumb	57167	SALL4	OMIM:607323
HP:0009778	Short thumb	57167	SALL4	ORPHA:959
HP:0009778	Short thumb	57167	SALL4	ORPHA:2307
HP:0009778	Short thumb	57167	SALL4	OMIM:147750
HP:0009778	Short thumb	9401	RECQL4	OMIM:268400
HP:0009778	Short thumb	29998	BICRA	OMIM:619325
HP:0009778	Short thumb	2175	FANCA	OMIM:227650
HP:0009778	Short thumb	1723	DHODH	OMIM:263750
HP:0009778	Short thumb	55215	FANCI	OMIM:609053
HP:0009778	Short thumb	1836	SLC26A2	ORPHA:93307
HP:0009778	Short thumb	83990	BRIP1	OMIM:609054
HP:0009778	Short thumb	10847	SRCAP	ORPHA:2044
HP:0009778	Short thumb	526	ATP6V1B2	ORPHA:79499
HP:0009778	Short thumb	4038	LRP4	ORPHA:3258
HP:0009778	Short thumb	324	APC	ORPHA:3258
HP:0009778	Short thumb	3549	IHH	ORPHA:93388
HP:0009778	Short thumb	8200	GDF5	ORPHA:93388
HP:0009778	Short thumb	8200	GDF5	ORPHA:968
HP:0009778	Short thumb	8200	GDF5	OMIM:201250
HP:0009778	Short thumb	658	BMPR1B	ORPHA:93388
HP:0009778	Short thumb	2188	FANCF	OMIM:603467
HP:0009778	Short thumb	176	ACAN	ORPHA:435804
HP:0009778	Short thumb	176	ACAN	OMIM:165800
HP:0009778	Short thumb	54880	BCOR	ORPHA:2712
HP:0009778	Short thumb	157570	ESCO2	ORPHA:2319
HP:0009778	Short thumb	3209	HOXA13	ORPHA:2438
HP:0009778	Short thumb	3209	HOXA13	OMIM:176305
HP:0009778	Short thumb	7020	TFAP2A	OMIM:113620
HP:0009778	Short thumb	1717	DHCR7	OMIM:270400
HP:0009778	Short thumb	727857	BHLHA9	ORPHA:157801
HP:0009778	Short thumb	10815	CPLX1	ORPHA:280
HP:0009778	Short thumb	10815	CPLX1	OMIM:194190
HP:0009778	Short thumb	54872	PIGG	ORPHA:280
HP:0009778	Short thumb	7469	NELFA	ORPHA:280
HP:0009778	Short thumb	1487	CTBP1	ORPHA:280
HP:0009778	Short thumb	1487	CTBP1	OMIM:194190
HP:0009778	Short thumb	3954	LETM1	ORPHA:280
HP:0009778	Short thumb	3954	LETM1	OMIM:194190
HP:0009778	Short thumb	7468	NSD2	ORPHA:280
HP:0009778	Short thumb	7468	NSD2	OMIM:194190
HP:0009778	Short thumb	2178	FANCE	OMIM:600901
HP:0009778	Short thumb	4613	MYCN	OMIM:164280
HP:0009778	Short thumb	4613	MYCN	ORPHA:391641
HP:0009778	Short thumb	55636	CHD7	OMIM:214800
HP:0009778	Short thumb	25942	SIN3A	OMIM:613406
HP:0009778	Short thumb	53834	FGFRL1	OMIM:194190
HP:0009778	Short thumb	2316	FLNA	ORPHA:90650
HP:0009778	Short thumb	2316	FLNA	ORPHA:90652
HP:0009778	Short thumb	2316	FLNA	OMIM:304120
HP:0009778	Short thumb	6135	RPL11	OMIM:612562
HP:0009778	Short thumb	6135	RPL11	ORPHA:124
HP:0009778	Short thumb	2033	EP300	OMIM:180849
HP:0009778	Short thumb	1387	CREBBP	OMIM:180849
HP:0009778	Short thumb	6125	RPL5	OMIM:612561
HP:0009778	Short thumb	6125	RPL5	ORPHA:124
HP:0009778	Short thumb	91461	PKDCC	OMIM:618821
HP:0009778	Short thumb	80036	TRPM3	OMIM:620224
HP:0009778	Short thumb	2255	FGF10	OMIM:620193
HP:0009778	Short thumb	2255	FGF10	ORPHA:2363
HP:0009778	Short thumb	374879	ZNF699	OMIM:619488
HP:0009778	Short thumb	7750	ZMYM2	OMIM:619522
HP:0009778	Short thumb	2261	FGFR3	ORPHA:2363
HP:0009778	Short thumb	79728	PALB2	OMIM:610832
HP:0009778	Short thumb	407975	MIR17HG	ORPHA:391646
HP:0009778	Short thumb	675	BRCA2	OMIM:605724
HP:0009778	Short thumb	2177	FANCD2	OMIM:227646
HP:0009778	Short thumb	5889	RAD51C	OMIM:613390
HP:0009778	Short thumb	50515	CHST11	OMIM:618167
HP:0009778	Short thumb	2176	FANCC	OMIM:227645
HP:0009778	Short thumb	4256	MGP	OMIM:245150
HP:0009778	Short thumb	9968	MED12	OMIM:300895
HP:0009778	Short thumb	84823	LMNB2	OMIM:616540
HP:0009778	Short thumb	2200	FBN1	ORPHA:3449
HP:0009778	Short thumb	170691	ADAMTS17	ORPHA:3449
HP:0009778	Short thumb	4053	LTBP2	ORPHA:3449
HP:0009778	Short thumb	81794	ADAMTS10	ORPHA:3449
HP:0009778	Short thumb	2260	FGFR1	OMIM:166250
HP:0009778	Short thumb	84464	SLX4	OMIM:613951
HP:0009778	Short thumb	5718	PSMD12	OMIM:617516
HP:0009778	Short thumb	374969	SVBP	OMIM:618569
HP:0009778	Short thumb	9939	RBM8A	OMIM:274000
HP:0009778	Short thumb	6223	RPS19	OMIM:105650
HP:0009778	Short thumb	6223	RPS19	ORPHA:124
HP:0009778	Short thumb	9896	FIG4	OMIM:216340
HP:0009778	Short thumb	6910	TBX5	OMIM:142900
HP:0009778	Short thumb	6138	RPL15	ORPHA:124
HP:0009778	Short thumb	6224	RPS20	ORPHA:124
HP:0009778	Short thumb	6165	RPL35A	ORPHA:124
HP:0009778	Short thumb	6132	RPL8	ORPHA:124
HP:0009778	Short thumb	6232	RPS27	ORPHA:124
HP:0009778	Short thumb	55027	HEATR3	ORPHA:124
HP:0009778	Short thumb	6160	RPL31	ORPHA:124
HP:0009778	Short thumb	6201	RPS7	ORPHA:124
HP:0009778	Short thumb	6155	RPL27	ORPHA:124
HP:0009778	Short thumb	6234	RPS28	ORPHA:124
HP:0009778	Short thumb	6229	RPS24	ORPHA:124
HP:0009778	Short thumb	6204	RPS10	ORPHA:124
HP:0009778	Short thumb	2623	GATA1	ORPHA:124
HP:0009778	Short thumb	6133	RPL9	ORPHA:124
HP:0009778	Short thumb	6231	RPS26	ORPHA:124
HP:0009778	Short thumb	11224	RPL35	ORPHA:124
HP:0009778	Short thumb	6218	RPS17	ORPHA:124
HP:0009778	Short thumb	6154	RPL26	ORPHA:124
HP:0009778	Short thumb	6210	RPS15A	ORPHA:124
HP:0009778	Short thumb	90121	TSR2	ORPHA:124
HP:0009778	Short thumb	6141	RPL18	ORPHA:124
HP:0009778	Short thumb	6235	RPS29	ORPHA:124
HP:0009778	Short thumb	51816	ADA2	ORPHA:124
HP:0009778	Short thumb	26100	WIPI2	OMIM:618453
HP:0009778	Short thumb	9775	EIF4A3	OMIM:268305
HP:0009778	Short thumb	54101	RIPK4	OMIM:263650
HP:0009778	Short thumb	29089	UBE2T	OMIM:616435
HP:0009778	Short thumb	2535	FZD2	OMIM:164745
HP:0009778	Short thumb	2535	FZD2	ORPHA:93328
HP:0009778	Short thumb	23476	BRD4	ORPHA:199
HP:0009778	Short thumb	23476	BRD4	OMIM:620568
HP:0009778	Short thumb	9126	SMC3	ORPHA:199
HP:0009778	Short thumb	8243	SMC1A	ORPHA:199
HP:0009778	Short thumb	6878	TAF6	ORPHA:199
HP:0009778	Short thumb	25836	NIPBL	ORPHA:199
HP:0009778	Short thumb	55869	HDAC8	ORPHA:199
HP:0009778	Short thumb	5885	RAD21	ORPHA:199
HP:0009778	Short thumb	90	ACVR1	OMIM:135100
HP:0009778	Short thumb	57020	VPS35L	OMIM:619135
HP:0009778	Short thumb	9241	NOG	OMIM:186570
HP:0009778	Short thumb	9241	NOG	OMIM:611377
HP:0009778	Short thumb	6091	ROBO1	OMIM:620305
HP:0009778	Short thumb	6662	SOX9	OMIM:114290
HP:0009778	Short thumb	5116	PCNT	OMIM:210720
HP:0009778	Short thumb	26040	SETBP1	OMIM:269150
HP:0009778	Short thumb	26040	SETBP1	ORPHA:798
HP:0009778	Short thumb	388015	RTL1	ORPHA:96334
HP:0009778	Short thumb	8788	DLK1	ORPHA:96334
HP:0009778	Short thumb	55384	MEG3	ORPHA:96334
HP:0009778	Short thumb	3911	LAMA5	OMIM:620076
HP:0009778	Short thumb	124583	CANT1	OMIM:251450
HP:0000894	Short clavicles	9321	TRIP11	OMIM:200600
HP:0000894	Short clavicles	11285	B4GALT7	OMIM:130070
HP:0000894	Short clavicles	10269	ZMPSTE24	OMIM:608612
HP:0000894	Short clavicles	10269	ZMPSTE24	OMIM:275210
HP:0000894	Short clavicles	10269	ZMPSTE24	ORPHA:740
HP:0000894	Short clavicles	4488	MSX2	ORPHA:60015
HP:0000894	Short clavicles	4488	MSX2	OMIM:168550
HP:0000894	Short clavicles	60529	ALX4	ORPHA:60015
HP:0000894	Short clavicles	54880	BCOR	OMIM:309800
HP:0000894	Short clavicles	8260	NAA10	OMIM:309800
HP:0000894	Short clavicles	64840	PORCN	ORPHA:2092
HP:0000894	Short clavicles	340419	RSPO2	OMIM:618022
HP:0000894	Short clavicles	4000	LMNA	OMIM:619793
HP:0000894	Short clavicles	4000	LMNA	OMIM:212112
HP:0000894	Short clavicles	4000	LMNA	ORPHA:740
HP:0000894	Short clavicles	4000	LMNA	OMIM:248370
HP:0000894	Short clavicles	57167	SALL4	OMIM:147750
HP:0000894	Short clavicles	50814	NSDHL	OMIM:308050
HP:0000894	Short clavicles	1108	CHD4	OMIM:617159
HP:0000894	Short clavicles	64131	XYLT1	OMIM:615777
HP:0000894	Short clavicles	64131	XYLT1	ORPHA:370930
HP:0000894	Short clavicles	538	ATP7A	OMIM:304150
HP:0000894	Short clavicles	2263	FGFR2	ORPHA:313855
HP:0000894	Short clavicles	2263	FGFR2	OMIM:614592
HP:0000894	Short clavicles	9896	FIG4	OMIM:216340
HP:0000894	Short clavicles	6910	TBX5	OMIM:142900
HP:0000894	Short clavicles	267010	RNU12	OMIM:603116
HP:0000894	Short clavicles	6926	TBX3	OMIM:181450
HP:0000894	Short clavicles	10847	SRCAP	OMIM:136140
HP:0000894	Short clavicles	10847	SRCAP	ORPHA:2044
HP:0000894	Short clavicles	633	BGN	OMIM:300106
HP:0000894	Short clavicles	860	RUNX2	OMIM:119600
HP:0000894	Short clavicles	860	RUNX2	ORPHA:1452
HP:0000894	Short clavicles	51626	DYNC2LI1	OMIM:617088
HP:0000894	Short clavicles	221496	LEMD2	OMIM:619322
HP:0000894	Short clavicles	91179	SCARF2	OMIM:600920
HP:0000894	Short clavicles	9578	CDC42BPB	OMIM:619841
HP:0000894	Short clavicles	3239	HOXD13	OMIM:113300
HP:0000894	Short clavicles	2316	FLNA	OMIM:309350
HP:0000894	Short clavicles	2316	FLNA	ORPHA:2484
HP:0000894	Short clavicles	79633	FAT4	OMIM:615546
HP:0000894	Short clavicles	7291	TWIST1	OMIM:617746
HP:0000894	Short clavicles	8642	DCHS1	OMIM:601390
HP:0000894	Short clavicles	3425	IDUA	OMIM:607014
HP:0000894	Short clavicles	865	CBFB	OMIM:620099
HP:0000894	Short clavicles	26224	FBXL3	OMIM:606220
HP:0000894	Short clavicles	5728	PTEN	ORPHA:79076
HP:0000894	Short clavicles	657	BMPR1A	ORPHA:79076
HP:0009626	Interphalangeal thumb joint contracture	1889	ECE1	OMIM:613870
HP:0005696	Postaxial polydactyly type A	285600	KIAA0825	OMIM:618498
HP:0005696	Postaxial polydactyly type A	51057	WDPCP	OMIM:217085
HP:0010049	Short metacarpal	9719	ADAMTSL2	OMIM:231050
HP:0010049	Short metacarpal	2535	FZD2	OMIM:164745
HP:0010049	Short metacarpal	2535	FZD2	ORPHA:93328
HP:0010049	Short metacarpal	23476	BRD4	ORPHA:199
HP:0010049	Short metacarpal	23476	BRD4	OMIM:620568
HP:0010049	Short metacarpal	9126	SMC3	ORPHA:199
HP:0010049	Short metacarpal	8243	SMC1A	ORPHA:199
HP:0010049	Short metacarpal	6878	TAF6	ORPHA:199
HP:0010049	Short metacarpal	25836	NIPBL	ORPHA:199
HP:0010049	Short metacarpal	55869	HDAC8	ORPHA:199
HP:0010049	Short metacarpal	5885	RAD21	ORPHA:199
HP:0010049	Short metacarpal	90	ACVR1	OMIM:135100
HP:0010049	Short metacarpal	57020	VPS35L	OMIM:619135
HP:0010049	Short metacarpal	10262	SF3B4	OMIM:154400
HP:0010049	Short metacarpal	9241	NOG	OMIM:186570
HP:0010049	Short metacarpal	9241	NOG	OMIM:611377
HP:0010049	Short metacarpal	57167	SALL4	OMIM:147750
HP:0010049	Short metacarpal	6091	ROBO1	OMIM:620305
HP:0010049	Short metacarpal	3209	HOXA13	OMIM:140000
HP:0010049	Short metacarpal	3209	HOXA13	ORPHA:2438
HP:0010049	Short metacarpal	658	BMPR1B	OMIM:609441
HP:0010049	Short metacarpal	6910	TBX5	OMIM:142900
HP:0010049	Short metacarpal	55215	FANCI	OMIM:609053
HP:0010049	Short metacarpal	6662	SOX9	OMIM:114290
HP:0010049	Short metacarpal	5116	PCNT	OMIM:210720
HP:0010049	Short metacarpal	26040	SETBP1	OMIM:269150
HP:0010049	Short metacarpal	26040	SETBP1	ORPHA:798
HP:0010049	Short metacarpal	388015	RTL1	ORPHA:96334
HP:0010049	Short metacarpal	8788	DLK1	ORPHA:96334
HP:0010049	Short metacarpal	55384	MEG3	ORPHA:96334
HP:0010049	Short metacarpal	3911	LAMA5	OMIM:620076
HP:0010049	Short metacarpal	124583	CANT1	OMIM:251450
HP:0010049	Short metacarpal	650	BMP2	ORPHA:93396
HP:0010049	Short metacarpal	374969	SVBP	OMIM:618569
HP:0010049	Short metacarpal	2737	GLI3	ORPHA:672
HP:0010049	Short metacarpal	2737	GLI3	OMIM:146510
HP:0010049	Short metacarpal	55612	FERMT1	ORPHA:2908
HP:0010049	Short metacarpal	94005	PIGS	OMIM:618143
HP:0010049	Short metacarpal	6473	SHOX	OMIM:127300
HP:0010049	Short metacarpal	6736	SRY	ORPHA:1772
HP:0010049	Short metacarpal	79633	FAT4	OMIM:615546
HP:0010049	Short metacarpal	51715	RAB23	ORPHA:65759
HP:0010049	Short metacarpal	1954	MEGF8	ORPHA:65759
HP:0010049	Short metacarpal	8642	DCHS1	OMIM:601390
HP:0010049	Short metacarpal	26224	FBXL3	OMIM:606220
HP:0010049	Short metacarpal	5727	PTCH1	OMIM:109400
HP:0010049	Short metacarpal	860	RUNX2	OMIM:156510
HP:0010049	Short metacarpal	8823	FGF16	OMIM:309630
HP:0010049	Short metacarpal	2137	EXTL3	ORPHA:508533
HP:0010049	Short metacarpal	1280	COL2A1	OMIM:271700
HP:0010049	Short metacarpal	1280	COL2A1	OMIM:609162
HP:0010049	Short metacarpal	9361	LONP1	OMIM:600373
HP:0010049	Short metacarpal	9361	LONP1	ORPHA:1458
HP:0010049	Short metacarpal	5573	PRKAR1A	ORPHA:950
HP:0010049	Short metacarpal	5573	PRKAR1A	OMIM:101800
HP:0010049	Short metacarpal	5144	PDE4D	ORPHA:950
HP:0010049	Short metacarpal	5144	PDE4D	ORPHA:439822
HP:0010049	Short metacarpal	5144	PDE4D	OMIM:614613
HP:0010049	Short metacarpal	64374	SIL1	OMIM:248800
HP:0010049	Short metacarpal	4921	DDR2	OMIM:271665
HP:0010049	Short metacarpal	54808	DYM	OMIM:607326
HP:0010049	Short metacarpal	54808	DYM	OMIM:223800
HP:0010049	Short metacarpal	2131	EXT1	OMIM:133700
HP:0010049	Short metacarpal	2131	EXT1	ORPHA:321
HP:0010049	Short metacarpal	2132	EXT2	OMIM:133701
HP:0010049	Short metacarpal	2132	EXT2	ORPHA:321
HP:0010049	Short metacarpal	1763	DNA2	OMIM:620819
HP:0010049	Short metacarpal	2879	GPX4	ORPHA:93317
HP:0010049	Short metacarpal	2879	GPX4	OMIM:250220
HP:0010049	Short metacarpal	100151683	RNU4ATAC	OMIM:210710
HP:0010049	Short metacarpal	100151683	RNU4ATAC	OMIM:616651
HP:0010049	Short metacarpal	6885	MAP3K7	OMIM:617137
HP:0010049	Short metacarpal	6885	MAP3K7	ORPHA:1826
HP:0010049	Short metacarpal	9759	HDAC4	ORPHA:1001
HP:0010049	Short metacarpal	9759	HDAC4	OMIM:600430
HP:0010049	Short metacarpal	89970	RSPRY1	OMIM:616723
HP:0010049	Short metacarpal	89970	RSPRY1	ORPHA:457395
HP:0010049	Short metacarpal	55733	HHAT	OMIM:600092
HP:0010049	Short metacarpal	55733	HHAT	ORPHA:1422
HP:0010049	Short metacarpal	90459	ERI1	OMIM:620662
HP:0010049	Short metacarpal	5447	POR	ORPHA:95699
HP:0010049	Short metacarpal	1836	SLC26A2	ORPHA:56304
HP:0010049	Short metacarpal	1836	SLC26A2	ORPHA:93307
HP:0010049	Short metacarpal	1836	SLC26A2	OMIM:226900
HP:0010049	Short metacarpal	114803	MYSM1	ORPHA:508542
HP:0010049	Short metacarpal	149775	GNAS-AS1	OMIM:603233
HP:0010049	Short metacarpal	2778	GNAS	OMIM:603233
HP:0010049	Short metacarpal	2778	GNAS	OMIM:612463
HP:0010049	Short metacarpal	2778	GNAS	OMIM:612462
HP:0010049	Short metacarpal	2778	GNAS	ORPHA:79443
HP:0010049	Short metacarpal	2778	GNAS	ORPHA:79444
HP:0010049	Short metacarpal	2778	GNAS	OMIM:103580
HP:0010049	Short metacarpal	8675	STX16	OMIM:603233
HP:0010049	Short metacarpal	8200	GDF5	OMIM:228900
HP:0010049	Short metacarpal	8200	GDF5	ORPHA:968
HP:0010049	Short metacarpal	117581	TWIST2	OMIM:200110
HP:0010049	Short metacarpal	10686	CLDN16	OMIM:248250
HP:0010049	Short metacarpal	10847	SRCAP	ORPHA:2044
HP:0010049	Short metacarpal	25782	RAB3GAP2	OMIM:212720
HP:0010049	Short metacarpal	5744	PTHLH	ORPHA:93387
HP:0010049	Short metacarpal	5744	PTHLH	OMIM:613382
HP:0010049	Short metacarpal	3239	HOXD13	ORPHA:93387
HP:0010049	Short metacarpal	3239	HOXD13	OMIM:113300
HP:0010049	Short metacarpal	10225	CD96	OMIM:211750
HP:0010049	Short metacarpal	64175	P3H1	OMIM:610915
HP:0010049	Short metacarpal	6197	RPS6KA3	OMIM:303600
HP:0010049	Short metacarpal	6197	RPS6KA3	ORPHA:192
HP:0010049	Short metacarpal	9469	CHST3	ORPHA:263463
HP:0010049	Short metacarpal	9469	CHST3	OMIM:143095
HP:0010049	Short metacarpal	54496	PRMT7	OMIM:617157
HP:0010049	Short metacarpal	64131	XYLT1	OMIM:615777
HP:0010049	Short metacarpal	2200	FBN1	ORPHA:969
HP:0010049	Short metacarpal	2200	FBN1	OMIM:608328
HP:0010049	Short metacarpal	2200	FBN1	OMIM:102370
HP:0010049	Short metacarpal	4054	LTBP3	ORPHA:969
HP:0010049	Short metacarpal	3759	KCNJ2	OMIM:170390
HP:0010049	Short metacarpal	2317	FLNB	OMIM:108720
HP:0010049	Short metacarpal	2317	FLNB	OMIM:272460
HP:0010049	Short metacarpal	2317	FLNB	OMIM:150250
HP:0010049	Short metacarpal	157680	VPS13B	OMIM:216550
HP:0010049	Short metacarpal	5139	PDE3A	OMIM:112410
HP:0010049	Short metacarpal	5139	PDE3A	ORPHA:1276
HP:0010049	Short metacarpal	3549	IHH	OMIM:607778
HP:0010049	Short metacarpal	3549	IHH	OMIM:112500
HP:0010049	Short metacarpal	633	BGN	OMIM:300106
HP:0010049	Short metacarpal	5745	PTH1R	ORPHA:50945
HP:0010049	Short metacarpal	1311	COMP	OMIM:132400
HP:0010049	Short metacarpal	1311	COMP	OMIM:177170
HP:0010049	Short metacarpal	29980	DONSON	OMIM:617604
HP:0010049	Short metacarpal	64840	PORCN	OMIM:305600
HP:0010049	Short metacarpal	4882	NPR2	OMIM:602875
HP:0010049	Short metacarpal	145173	B3GLCT	OMIM:261540
HP:0010049	Short metacarpal	9401	RECQL4	ORPHA:221016
HP:0010049	Short metacarpal	5593	PRKG2	OMIM:619636
HP:0010049	Short metacarpal	10283	CWC27	OMIM:250410
HP:0010049	Short metacarpal	10283	CWC27	ORPHA:166035
HP:0010049	Short metacarpal	4810	NHS	ORPHA:627
HP:0010049	Short metacarpal	25839	COG4	OMIM:618150
HP:0010049	Short metacarpal	3636	INPPL1	OMIM:258480
HP:0010049	Short metacarpal	9321	TRIP11	OMIM:184260
HP:0010049	Short metacarpal	5130	PCYT1A	ORPHA:85167
HP:0010049	Short metacarpal	5130	PCYT1A	OMIM:608940
HP:0010049	Short metacarpal	54928	BPNT2	OMIM:614078
HP:0010049	Short metacarpal	51098	IFT52	OMIM:617102
HP:0010049	Short metacarpal	1299	COL9A3	OMIM:600969
HP:0010049	Short metacarpal	2316	FLNA	OMIM:304120
HP:0010049	Short metacarpal	2316	FLNA	ORPHA:1826
HP:0010049	Short metacarpal	4148	MATN3	OMIM:607078
HP:0010049	Short metacarpal	126792	B3GALT6	OMIM:271640
HP:0010049	Short metacarpal	126792	B3GALT6	OMIM:615349
HP:0010049	Short metacarpal	55252	ASXL2	OMIM:617190
HP:0010049	Short metacarpal	3930	LBR	OMIM:215140
HP:0010049	Short metacarpal	5264	PHYH	ORPHA:773
HP:0010049	Short metacarpal	5191	PEX7	ORPHA:773
HP:0010049	Short metacarpal	23483	TGDS	OMIM:616145
HP:0010049	Short metacarpal	2260	FGFR1	OMIM:166250
HP:0010049	Short metacarpal	1788	DNMT3A	OMIM:618724
HP:0010049	Short metacarpal	1302	COL11A2	ORPHA:1427
HP:0010049	Short metacarpal	5498	PPOX	OMIM:620483
HP:0010049	Short metacarpal	22856	CHSY1	OMIM:605282
HP:0010049	Short metacarpal	6595	SMARCA2	OMIM:601358
HP:0010049	Short metacarpal	9775	EIF4A3	OMIM:268305
HP:0010049	Short metacarpal	54101	RIPK4	OMIM:263650
HP:0010049	Short metacarpal	83452	RAB33B	OMIM:615222
HP:0010049	Short metacarpal	91252	SLC39A13	OMIM:612350
HP:0010049	Short metacarpal	57560	IFT80	OMIM:611263
HP:0010049	Short metacarpal	1297	COL9A1	OMIM:614134
HP:0010049	Short metacarpal	25871	NEPRO	OMIM:618853
HP:0010049	Short metacarpal	7227	TRPS1	OMIM:190350
HP:0010049	Short metacarpal	7227	TRPS1	OMIM:190351
HP:0010049	Short metacarpal	7227	TRPS1	ORPHA:77258
HP:0010049	Short metacarpal	90417	KNSTRN	OMIM:613328
HP:0010049	Short metacarpal	5293	PIK3CD	OMIM:613328
HP:0010049	Short metacarpal	25886	POC1A	OMIM:614813
HP:0010049	Short metacarpal	6023	RMRP	OMIM:250460
HP:0010049	Short metacarpal	64682	ANAPC1	ORPHA:221008
HP:0009882	Short distal phalanx of finger	2778	GNAS	ORPHA:79445
HP:0009882	Short distal phalanx of finger	10236	HNRNPR	OMIM:620073
HP:0009882	Short distal phalanx of finger	57492	ARID1B	OMIM:135900
HP:0009882	Short distal phalanx of finger	3481	IGF2	OMIM:180860
HP:0009882	Short distal phalanx of finger	6598	SMARCB1	OMIM:614608
HP:0009882	Short distal phalanx of finger	84295	PHF6	OMIM:301900
HP:0009882	Short distal phalanx of finger	84992	PIGY	ORPHA:247262
HP:0009882	Short distal phalanx of finger	84992	PIGY	OMIM:616809
HP:0009882	Short distal phalanx of finger	84720	PIGO	ORPHA:247262
HP:0009882	Short distal phalanx of finger	84720	PIGO	OMIM:614749
HP:0009882	Short distal phalanx of finger	93210	PGAP3	ORPHA:247262
HP:0009882	Short distal phalanx of finger	93210	PGAP3	OMIM:615716
HP:0009882	Short distal phalanx of finger	284098	PIGW	ORPHA:247262
HP:0009882	Short distal phalanx of finger	27315	PGAP2	ORPHA:247262
HP:0009882	Short distal phalanx of finger	27315	PGAP2	OMIM:614207
HP:0009882	Short distal phalanx of finger	9487	PIGL	ORPHA:247262
HP:0009882	Short distal phalanx of finger	57020	VPS35L	OMIM:619135
HP:0009882	Short distal phalanx of finger	2972	BRF1	OMIM:616202
HP:0009882	Short distal phalanx of finger	29929	ALG6	ORPHA:79320
HP:0009882	Short distal phalanx of finger	2737	GLI3	OMIM:146510
HP:0009882	Short distal phalanx of finger	5447	POR	ORPHA:95699
HP:0009882	Short distal phalanx of finger	658	BMPR1B	OMIM:616849
HP:0009882	Short distal phalanx of finger	57167	SALL4	ORPHA:959
HP:0009882	Short distal phalanx of finger	5293	PIK3CD	ORPHA:221139
HP:0009882	Short distal phalanx of finger	90417	KNSTRN	ORPHA:221139
HP:0009882	Short distal phalanx of finger	5727	PTCH1	OMIM:109400
HP:0009882	Short distal phalanx of finger	1280	COL2A1	OMIM:271700
HP:0009882	Short distal phalanx of finger	1280	COL2A1	ORPHA:93315
HP:0009882	Short distal phalanx of finger	1280	COL2A1	ORPHA:85166
HP:0009882	Short distal phalanx of finger	9488	PIGB	OMIM:618580
HP:0009882	Short distal phalanx of finger	10617	STAMBP	OMIM:614261
HP:0009882	Short distal phalanx of finger	8200	GDF5	OMIM:615072
HP:0009882	Short distal phalanx of finger	2335	FN1	ORPHA:93315
HP:0009882	Short distal phalanx of finger	23556	PIGN	ORPHA:2059
HP:0009882	Short distal phalanx of finger	23556	PIGN	OMIM:614080
HP:0009882	Short distal phalanx of finger	10973	ASCC3	OMIM:620700
HP:0009882	Short distal phalanx of finger	90459	ERI1	OMIM:620662
HP:0009882	Short distal phalanx of finger	59341	TRPV4	ORPHA:93314
HP:0009882	Short distal phalanx of finger	59341	TRPV4	OMIM:606835
HP:0009882	Short distal phalanx of finger	59341	TRPV4	ORPHA:85169
HP:0009882	Short distal phalanx of finger	51412	ACTL6B	OMIM:618470
HP:0009882	Short distal phalanx of finger	9241	NOG	OMIM:184460
HP:0009882	Short distal phalanx of finger	9241	NOG	ORPHA:140908
HP:0009882	Short distal phalanx of finger	9241	NOG	OMIM:611377
HP:0009882	Short distal phalanx of finger	57465	TBC1D24	OMIM:220500
HP:0009882	Short distal phalanx of finger	57465	TBC1D24	ORPHA:79500
HP:0009882	Short distal phalanx of finger	613	BCR	ORPHA:261330
HP:0009882	Short distal phalanx of finger	1399	CRKL	ORPHA:261330
HP:0009882	Short distal phalanx of finger	5594	MAPK1	ORPHA:261330
HP:0009882	Short distal phalanx of finger	1855	DVL1	OMIM:616331
HP:0009882	Short distal phalanx of finger	55784	MCTP2	ORPHA:1596
HP:0009882	Short distal phalanx of finger	4000	LMNA	OMIM:248370
HP:0009882	Short distal phalanx of finger	4000	LMNA	ORPHA:90153
HP:0009882	Short distal phalanx of finger	5744	PTHLH	ORPHA:93387
HP:0009882	Short distal phalanx of finger	3239	HOXD13	ORPHA:93387
HP:0009882	Short distal phalanx of finger	3239	HOXD13	ORPHA:93406
HP:0009882	Short distal phalanx of finger	3239	HOXD13	OMIM:186300
HP:0009882	Short distal phalanx of finger	3764	KCNJ8	ORPHA:1517
HP:0009882	Short distal phalanx of finger	10060	ABCC9	ORPHA:1517
HP:0009882	Short distal phalanx of finger	57539	WDR35	ORPHA:1515
HP:0009882	Short distal phalanx of finger	57539	WDR35	OMIM:614091
HP:0009882	Short distal phalanx of finger	112752	IFT43	ORPHA:1515
HP:0009882	Short distal phalanx of finger	51098	IFT52	ORPHA:1515
HP:0009882	Short distal phalanx of finger	51098	IFT52	OMIM:617102
HP:0009882	Short distal phalanx of finger	55764	IFT122	ORPHA:1515
HP:0009882	Short distal phalanx of finger	55764	IFT122	OMIM:218330
HP:0009882	Short distal phalanx of finger	57728	WDR19	ORPHA:1515
HP:0009882	Short distal phalanx of finger	57728	WDR19	OMIM:614378
HP:0009882	Short distal phalanx of finger	10269	ZMPSTE24	ORPHA:90154
HP:0009882	Short distal phalanx of finger	6926	TBX3	ORPHA:3138
HP:0009882	Short distal phalanx of finger	55650	PIGV	OMIM:239300
HP:0009882	Short distal phalanx of finger	29957	SLC25A24	ORPHA:2963
HP:0009882	Short distal phalanx of finger	29957	SLC25A24	ORPHA:2095
HP:0009882	Short distal phalanx of finger	29957	SLC25A24	OMIM:612289
HP:0009882	Short distal phalanx of finger	6595	SMARCA2	OMIM:619293
HP:0009882	Short distal phalanx of finger	4784	NFIX	OMIM:602535
HP:0009882	Short distal phalanx of finger	24140	FTSJ1	OMIM:309549
HP:0009882	Short distal phalanx of finger	54496	PRMT7	OMIM:617157
HP:0009882	Short distal phalanx of finger	3756	KCNH1	OMIM:135500
HP:0009882	Short distal phalanx of finger	3756	KCNH1	ORPHA:420561
HP:0009882	Short distal phalanx of finger	3756	KCNH1	OMIM:611816
HP:0009882	Short distal phalanx of finger	9469	CHST3	OMIM:143095
HP:0009882	Short distal phalanx of finger	64359	NXN	ORPHA:1507
HP:0009882	Short distal phalanx of finger	4920	ROR2	ORPHA:1507
HP:0009882	Short distal phalanx of finger	4920	ROR2	OMIM:268310
HP:0009882	Short distal phalanx of finger	8289	ARID1A	OMIM:614607
HP:0009882	Short distal phalanx of finger	3209	HOXA13	ORPHA:2438
HP:0009882	Short distal phalanx of finger	5566	PRKACA	ORPHA:289
HP:0009882	Short distal phalanx of finger	5567	PRKACB	ORPHA:289
HP:0009882	Short distal phalanx of finger	2735	GLI1	ORPHA:289
HP:0009882	Short distal phalanx of finger	2121	EVC	ORPHA:289
HP:0009882	Short distal phalanx of finger	51626	DYNC2LI1	ORPHA:289
HP:0009882	Short distal phalanx of finger	132884	EVC2	ORPHA:289
HP:0009882	Short distal phalanx of finger	3549	IHH	OMIM:607778
HP:0009882	Short distal phalanx of finger	3549	IHH	OMIM:112500
HP:0009882	Short distal phalanx of finger	2475	MTOR	OMIM:616638
HP:0009882	Short distal phalanx of finger	5116	PCNT	OMIM:210720
HP:0009882	Short distal phalanx of finger	9419	CRIPT	OMIM:615789
HP:0009882	Short distal phalanx of finger	3782	KCNN3	OMIM:618658
HP:0009882	Short distal phalanx of finger	4853	NOTCH2	ORPHA:955
HP:0009882	Short distal phalanx of finger	26040	SETBP1	OMIM:269150
HP:0009882	Short distal phalanx of finger	26040	SETBP1	ORPHA:798
HP:0009882	Short distal phalanx of finger	2239	GPC4	ORPHA:2662
HP:0009882	Short distal phalanx of finger	2239	GPC4	OMIM:312870
HP:0009882	Short distal phalanx of finger	2316	FLNA	ORPHA:90650
HP:0009882	Short distal phalanx of finger	2316	FLNA	ORPHA:2484
HP:0009882	Short distal phalanx of finger	2316	FLNA	ORPHA:1826
HP:0009882	Short distal phalanx of finger	2316	FLNA	OMIM:309350
HP:0009882	Short distal phalanx of finger	2316	FLNA	OMIM:311300
HP:0009882	Short distal phalanx of finger	54	ACP5	ORPHA:1855
HP:0009882	Short distal phalanx of finger	6197	RPS6KA3	ORPHA:192
HP:0009882	Short distal phalanx of finger	1300	COL10A1	OMIM:156500
HP:0009882	Short distal phalanx of finger	5281	PIGF	OMIM:619356
HP:0009882	Short distal phalanx of finger	94005	PIGS	OMIM:618143
HP:0009882	Short distal phalanx of finger	2677	GGCX	OMIM:277450
HP:0009882	Short distal phalanx of finger	10283	CWC27	OMIM:250410
HP:0009882	Short distal phalanx of finger	415	ARSL	ORPHA:79345
HP:0009882	Short distal phalanx of finger	415	ARSL	OMIM:302950
HP:0009882	Short distal phalanx of finger	526	ATP6V1B2	ORPHA:79500
HP:0009882	Short distal phalanx of finger	2317	FLNB	ORPHA:503
HP:0009882	Short distal phalanx of finger	1311	COMP	OMIM:177170
HP:0009882	Short distal phalanx of finger	25839	COG4	OMIM:618150
HP:0009882	Short distal phalanx of finger	26137	ZBTB20	OMIM:259050
HP:0009882	Short distal phalanx of finger	60401	EDA2R	ORPHA:181
HP:0009882	Short distal phalanx of finger	1896	EDA	ORPHA:181
HP:0009882	Short distal phalanx of finger	5159	PDGFRB	OMIM:601812
HP:0009882	Short distal phalanx of finger	4256	MGP	ORPHA:85202
HP:0009882	Short distal phalanx of finger	4256	MGP	OMIM:245150
HP:0009882	Short distal phalanx of finger	28952	CCDC22	OMIM:300963
HP:0009882	Short distal phalanx of finger	182	JAG1	OMIM:118450
HP:0009882	Short distal phalanx of finger	7291	TWIST1	OMIM:617746
HP:0009882	Short distal phalanx of finger	6605	SMARCE1	OMIM:616938
HP:0009882	Short distal phalanx of finger	3516	RBPJ	ORPHA:974
HP:0009882	Short distal phalanx of finger	3516	RBPJ	OMIM:614814
HP:0009882	Short distal phalanx of finger	4851	NOTCH1	ORPHA:974
HP:0009882	Short distal phalanx of finger	57514	ARHGAP31	ORPHA:974
HP:0009882	Short distal phalanx of finger	57572	DOCK6	ORPHA:974
HP:0009882	Short distal phalanx of finger	285203	EOGT	ORPHA:974
HP:0009882	Short distal phalanx of finger	54567	DLL4	ORPHA:974
HP:0009882	Short distal phalanx of finger	50515	CHST11	OMIM:618167
HP:0009882	Short distal phalanx of finger	8242	KDM5C	OMIM:300534
HP:0009882	Short distal phalanx of finger	6885	MAP3K7	ORPHA:1826
HP:0009882	Short distal phalanx of finger	9896	FIG4	OMIM:216340
HP:0009882	Short distal phalanx of finger	1186	CLCN7	ORPHA:53
HP:0009882	Short distal phalanx of finger	2703	GJA8	OMIM:612474
HP:0009882	Short distal phalanx of finger	2702	GJA5	OMIM:612474
HP:0009882	Short distal phalanx of finger	2719	GPC3	OMIM:312870
HP:0009882	Short distal phalanx of finger	6664	SOX11	OMIM:615866
HP:0009882	Short distal phalanx of finger	55081	IFT57	OMIM:617927
HP:0009882	Short distal phalanx of finger	25886	POC1A	OMIM:614813
HP:0009882	Short distal phalanx of finger	865	CBFB	OMIM:620099
HP:0009882	Short distal phalanx of finger	7227	TRPS1	ORPHA:77258
HP:0009623	Proximal placement of thumb	23476	BRD4	ORPHA:199
HP:0009623	Proximal placement of thumb	9126	SMC3	ORPHA:199
HP:0009623	Proximal placement of thumb	9126	SMC3	OMIM:610759
HP:0009623	Proximal placement of thumb	8243	SMC1A	ORPHA:199
HP:0009623	Proximal placement of thumb	8243	SMC1A	OMIM:300590
HP:0009623	Proximal placement of thumb	6878	TAF6	ORPHA:199
HP:0009623	Proximal placement of thumb	25836	NIPBL	ORPHA:199
HP:0009623	Proximal placement of thumb	25836	NIPBL	OMIM:122470
HP:0009623	Proximal placement of thumb	55869	HDAC8	ORPHA:199
HP:0009623	Proximal placement of thumb	55869	HDAC8	OMIM:300882
HP:0009623	Proximal placement of thumb	5885	RAD21	ORPHA:199
HP:0009623	Proximal placement of thumb	9361	LONP1	OMIM:600373
HP:0009623	Proximal placement of thumb	58499	ZNF462	ORPHA:502430
HP:0009623	Proximal placement of thumb	58499	ZNF462	OMIM:618619
HP:0009623	Proximal placement of thumb	579	NKX3-2	OMIM:613330
HP:0009623	Proximal placement of thumb	145173	B3GLCT	OMIM:261540
HP:0009623	Proximal placement of thumb	998	CDC42	ORPHA:487796
HP:0009623	Proximal placement of thumb	998	CDC42	OMIM:616737
HP:0009623	Proximal placement of thumb	80232	WDR26	OMIM:617616
HP:0009623	Proximal placement of thumb	22800	RRAS2	OMIM:618624
HP:0009623	Proximal placement of thumb	3209	HOXA13	OMIM:140000
HP:0009623	Proximal placement of thumb	3209	HOXA13	ORPHA:2438
HP:0009623	Proximal placement of thumb	90459	ERI1	OMIM:620663
HP:0009623	Proximal placement of thumb	1836	SLC26A2	ORPHA:628
HP:0009623	Proximal placement of thumb	157570	ESCO2	ORPHA:3103
HP:0009623	Proximal placement of thumb	7547	ZIC3	OMIM:314390
HP:0009623	Proximal placement of thumb	2187	FANCB	OMIM:314390
HP:0009623	Proximal placement of thumb	8314	BAP1	OMIM:619762
HP:0009623	Proximal placement of thumb	6472	SHMT2	OMIM:619121
HP:0009623	Proximal placement of thumb	29123	ANKRD11	ORPHA:261250
HP:0009623	Proximal placement of thumb	1717	DHCR7	ORPHA:818
HP:0009623	Proximal placement of thumb	1717	DHCR7	OMIM:270400
HP:0009623	Proximal placement of thumb	118924	FRA10AC1	OMIM:620113
HP:0009623	Proximal placement of thumb	51651	PTRH2	OMIM:616263
HP:0009623	Proximal placement of thumb	51651	PTRH2	ORPHA:456312
HP:0009623	Proximal placement of thumb	5889	RAD51C	OMIM:613390
HP:0009623	Proximal placement of thumb	652	BMP4	ORPHA:139471
HP:0009623	Proximal placement of thumb	55906	ZC4H2	OMIM:314580
HP:0009623	Proximal placement of thumb	9241	NOG	OMIM:611377
HP:0009623	Proximal placement of thumb	79087	ALG12	ORPHA:79324
HP:0009623	Proximal placement of thumb	3756	KCNH1	OMIM:611816
HP:0009623	Proximal placement of thumb	2626	GATA4	ORPHA:251071
HP:0009623	Proximal placement of thumb	5965	RECQL	OMIM:620370
HP:0009623	Proximal placement of thumb	7020	TFAP2A	OMIM:113620
HP:0009623	Proximal placement of thumb	6910	TBX5	OMIM:142900
HP:0009623	Proximal placement of thumb	25942	SIN3A	ORPHA:94065
HP:0009623	Proximal placement of thumb	25942	SIN3A	OMIM:613406
HP:0009623	Proximal placement of thumb	9775	EIF4A3	OMIM:268305
HP:0009623	Proximal placement of thumb	672	BRCA1	OMIM:617883
HP:0009623	Proximal placement of thumb	8626	TP63	ORPHA:1896
HP:0009623	Proximal placement of thumb	10664	CTCF	OMIM:615502
HP:0009623	Proximal placement of thumb	9419	CRIPT	OMIM:615789
HP:0009623	Proximal placement of thumb	4247	MGAT2	OMIM:212066
HP:0009623	Proximal placement of thumb	9343	EFTUD2	OMIM:610536
HP:0009623	Proximal placement of thumb	2316	FLNA	ORPHA:90650
HP:0005688	Dysplastic distal thumb phalanges with a central hole	2737	GLI3	OMIM:174700
HP:0005686	Patchy osteosclerosis	6905	TBCE	ORPHA:2323
HP:0005686	Patchy osteosclerosis	6905	TBCE	OMIM:241410
HP:0005686	Patchy osteosclerosis	8878	SQSTM1	OMIM:167250
HP:0005686	Patchy osteosclerosis	4507	MTAP	OMIM:112250
HP:0005686	Patchy osteosclerosis	2697	GJA1	OMIM:218400
HP:0002652	Skeletal dysplasia	4148	MATN3	OMIM:608728
HP:0002652	Skeletal dysplasia	4921	DDR2	OMIM:271665
HP:0002652	Skeletal dysplasia	4322	MMP13	OMIM:602111
HP:0002652	Skeletal dysplasia	126792	B3GALT6	ORPHA:536467
HP:0002652	Skeletal dysplasia	126792	B3GALT6	OMIM:271640
HP:0002652	Skeletal dysplasia	65992	DDRGK1	OMIM:602557
HP:0002652	Skeletal dysplasia	9131	AIFM1	OMIM:300232
HP:0002652	Skeletal dysplasia	633	BGN	OMIM:300106
HP:0002652	Skeletal dysplasia	23233	EXOC6B	OMIM:618395
HP:0002652	Skeletal dysplasia	89970	RSPRY1	ORPHA:457395
HP:0002652	Skeletal dysplasia	54187	NANS	OMIM:610442
HP:0002652	Skeletal dysplasia	9060	PAPSS2	OMIM:612847
HP:0002652	Skeletal dysplasia	176	ACAN	OMIM:612813
HP:0002652	Skeletal dysplasia	4796	TONSL	OMIM:271510
HP:0002652	Skeletal dysplasia	2737	GLI3	ORPHA:672
HP:0002652	Skeletal dysplasia	10491	CRTAP	ORPHA:2050
HP:0002652	Skeletal dysplasia	9871	SEC24D	ORPHA:2050
HP:0002652	Skeletal dysplasia	5034	P4HB	ORPHA:2050
HP:0002652	Skeletal dysplasia	2697	GJA1	ORPHA:1522
HP:0002652	Skeletal dysplasia	56172	ANKH	ORPHA:1522
HP:0002652	Skeletal dysplasia	652	BMP4	ORPHA:828
HP:0002652	Skeletal dysplasia	79796	ALG9	OMIM:608776
HP:0002652	Skeletal dysplasia	79796	ALG9	OMIM:263210
HP:0002652	Skeletal dysplasia	79796	ALG9	ORPHA:79328
HP:0002652	Skeletal dysplasia	2261	FGFR3	ORPHA:93274
HP:0002652	Skeletal dysplasia	2261	FGFR3	ORPHA:429
HP:0002652	Skeletal dysplasia	2261	FGFR3	ORPHA:1860
HP:0002652	Skeletal dysplasia	91147	TMEM67	OMIM:602152
HP:0002652	Skeletal dysplasia	91147	TMEM67	ORPHA:140976
HP:0002652	Skeletal dysplasia	5745	PTH1R	OMIM:600002
HP:0002652	Skeletal dysplasia	1836	SLC26A2	ORPHA:93307
HP:0002652	Skeletal dysplasia	224	ALDH3A2	ORPHA:816
HP:0002652	Skeletal dysplasia	5728	PTEN	ORPHA:2969
HP:0002652	Skeletal dysplasia	4758	NEU1	ORPHA:812
HP:0002652	Skeletal dysplasia	3764	KCNJ8	ORPHA:1517
HP:0002652	Skeletal dysplasia	10060	ABCC9	ORPHA:1517
HP:0002652	Skeletal dysplasia	2720	GLB1	ORPHA:79255
HP:0002652	Skeletal dysplasia	4072	EPCAM	ORPHA:92050
HP:0002652	Skeletal dysplasia	105371045	PERCC1	ORPHA:92050
HP:0002652	Skeletal dysplasia	65082	VPS33A	ORPHA:505248
HP:0002652	Skeletal dysplasia	6023	RMRP	ORPHA:175
HP:0002652	Skeletal dysplasia	10484	SEC23A	ORPHA:50814
HP:0002652	Skeletal dysplasia	3549	IHH	ORPHA:63446
HP:0002652	Skeletal dysplasia	284058	KANSL1	ORPHA:363958
HP:0002652	Skeletal dysplasia	284058	KANSL1	ORPHA:363965
HP:0002652	Skeletal dysplasia	55699	IARS2	ORPHA:436174
HP:0002652	Skeletal dysplasia	2260	FGFR1	ORPHA:2396
HP:0002652	Skeletal dysplasia	2260	FGFR1	ORPHA:478
HP:0002652	Skeletal dysplasia	3845	KRAS	ORPHA:2396
HP:0002652	Skeletal dysplasia	1280	COL2A1	ORPHA:90653
HP:0002652	Skeletal dysplasia	1280	COL2A1	ORPHA:85166
HP:0002652	Skeletal dysplasia	1280	COL2A1	ORPHA:93296
HP:0002652	Skeletal dysplasia	860	RUNX2	ORPHA:1452
HP:0002652	Skeletal dysplasia	1001	CDH3	ORPHA:1573
HP:0002652	Skeletal dysplasia	114548	NLRP3	ORPHA:1451
HP:0002652	Skeletal dysplasia	79633	FAT4	OMIM:615546
HP:0002652	Skeletal dysplasia	8642	DCHS1	OMIM:601390
HP:0002652	Skeletal dysplasia	4853	NOTCH2	ORPHA:955
HP:0002652	Skeletal dysplasia	2316	FLNA	ORPHA:90650
HP:0002652	Skeletal dysplasia	2316	FLNA	ORPHA:90652
HP:0002652	Skeletal dysplasia	2316	FLNA	ORPHA:1826
HP:0002652	Skeletal dysplasia	11285	B4GALT7	ORPHA:75496
HP:0002652	Skeletal dysplasia	9851	KIAA0753	ORPHA:474
HP:0002652	Skeletal dysplasia	55112	DYNC2I1	ORPHA:474
HP:0002652	Skeletal dysplasia	26160	IFT172	ORPHA:474
HP:0002652	Skeletal dysplasia	153241	CEP120	ORPHA:474
HP:0002652	Skeletal dysplasia	57560	IFT80	ORPHA:474
HP:0002652	Skeletal dysplasia	51626	DYNC2LI1	ORPHA:474
HP:0002652	Skeletal dysplasia	79659	DYNC2H1	ORPHA:474
HP:0002652	Skeletal dysplasia	9742	IFT140	ORPHA:474
HP:0002652	Skeletal dysplasia	57728	WDR19	ORPHA:474
HP:0002652	Skeletal dysplasia	89891	DYNC2I2	ORPHA:474
HP:0002652	Skeletal dysplasia	79809	TTC21B	ORPHA:474
HP:0002652	Skeletal dysplasia	3835	KIF22	ORPHA:93360
HP:0002652	Skeletal dysplasia	5476	CTSA	ORPHA:351
HP:0002652	Skeletal dysplasia	6608	SMO	OMIM:241800
HP:0002652	Skeletal dysplasia	8200	GDF5	ORPHA:2098
HP:0002652	Skeletal dysplasia	658	BMPR1B	ORPHA:2098
HP:0002652	Skeletal dysplasia	7305	TYROBP	ORPHA:2770
HP:0002652	Skeletal dysplasia	54209	TREM2	ORPHA:2770
HP:0002652	Skeletal dysplasia	3425	IDUA	ORPHA:93473
HP:0002652	Skeletal dysplasia	3425	IDUA	ORPHA:93476
HP:0002652	Skeletal dysplasia	7040	TGFB1	ORPHA:1328
HP:0002652	Skeletal dysplasia	207	AKT1	ORPHA:744
HP:0002652	Skeletal dysplasia	84172	POLR1B	ORPHA:861
HP:0002652	Skeletal dysplasia	9533	POLR1C	ORPHA:861
HP:0002652	Skeletal dysplasia	51082	POLR1D	ORPHA:861
HP:0002652	Skeletal dysplasia	6949	TCOF1	ORPHA:861
HP:0002652	Skeletal dysplasia	5264	PHYH	ORPHA:773
HP:0002652	Skeletal dysplasia	5191	PEX7	ORPHA:773
HP:0002652	Skeletal dysplasia	1758	DMP1	ORPHA:289176
HP:0002652	Skeletal dysplasia	5167	ENPP1	ORPHA:289176
HP:0002652	Skeletal dysplasia	3977	LIFR	ORPHA:3206
HP:0002652	Skeletal dysplasia	59341	TRPV4	ORPHA:2635
HP:0002652	Skeletal dysplasia	6885	MAP3K7	ORPHA:1826
HP:0002652	Skeletal dysplasia	29929	ALG6	ORPHA:79320
HP:0002652	Skeletal dysplasia	3339	HSPG2	ORPHA:800
HP:0002652	Skeletal dysplasia	71	ACTG1	ORPHA:2995
HP:0002652	Skeletal dysplasia	60	ACTB	ORPHA:2995
HP:0002652	Skeletal dysplasia	9451	EIF2AK3	ORPHA:1667
HP:0002652	Skeletal dysplasia	10262	SF3B4	ORPHA:245
HP:0002652	Skeletal dysplasia	91252	SLC39A13	ORPHA:157965
HP:0002652	Skeletal dysplasia	55670	PEX26	ORPHA:912
HP:0002652	Skeletal dysplasia	5824	PEX19	ORPHA:912
HP:0002652	Skeletal dysplasia	5828	PEX2	ORPHA:912
HP:0002652	Skeletal dysplasia	8504	PEX3	ORPHA:912
HP:0002652	Skeletal dysplasia	8799	PEX11B	ORPHA:912
HP:0002652	Skeletal dysplasia	9409	PEX16	ORPHA:912
HP:0002652	Skeletal dysplasia	5190	PEX6	ORPHA:912
HP:0002652	Skeletal dysplasia	5830	PEX5	ORPHA:912
HP:0002652	Skeletal dysplasia	5189	PEX1	ORPHA:912
HP:0002652	Skeletal dysplasia	5193	PEX12	ORPHA:912
HP:0002652	Skeletal dysplasia	5194	PEX13	ORPHA:912
HP:0002652	Skeletal dysplasia	5195	PEX14	ORPHA:912
HP:0002652	Skeletal dysplasia	5192	PEX10	ORPHA:912
HP:0002652	Skeletal dysplasia	2778	GNAS	ORPHA:57782
HP:0002652	Skeletal dysplasia	10371	SEMA3A	ORPHA:478
HP:0002652	Skeletal dysplasia	81848	SPRY4	ORPHA:478
HP:0002652	Skeletal dysplasia	23767	FLRT3	ORPHA:478
HP:0002652	Skeletal dysplasia	128674	PROKR2	ORPHA:478
HP:0002652	Skeletal dysplasia	79625	NDNF	ORPHA:478
HP:0002652	Skeletal dysplasia	2253	FGF8	ORPHA:478
HP:0002652	Skeletal dysplasia	389549	FEZF1	ORPHA:478
HP:0002652	Skeletal dysplasia	1630	DCC	ORPHA:478
HP:0002652	Skeletal dysplasia	3730	ANOS1	ORPHA:478
HP:0002652	Skeletal dysplasia	54756	IL17RD	ORPHA:478
HP:0002652	Skeletal dysplasia	6663	SOX10	ORPHA:478
HP:0002652	Skeletal dysplasia	285025	CCDC141	ORPHA:478
HP:0002652	Skeletal dysplasia	60675	PROK2	ORPHA:478
HP:0002652	Skeletal dysplasia	55636	CHD7	ORPHA:478
HP:0002652	Skeletal dysplasia	1848	DUSP6	ORPHA:478
HP:0002652	Skeletal dysplasia	6870	TACR3	ORPHA:478
HP:0002652	Skeletal dysplasia	55717	WDR11	ORPHA:478
HP:0002652	Skeletal dysplasia	9394	HS6ST1	ORPHA:478
HP:0002652	Skeletal dysplasia	8820	HESX1	ORPHA:478
HP:0002652	Skeletal dysplasia	8822	FGF17	ORPHA:478
HP:0002652	Skeletal dysplasia	54808	DYM	ORPHA:239
HP:0002652	Skeletal dysplasia	1281	COL3A1	ORPHA:2500
HP:0002652	Skeletal dysplasia	6399	TRAPPC2	ORPHA:93284
HP:0002652	Skeletal dysplasia	100151683	RNU4ATAC	OMIM:226960
HP:0002652	Skeletal dysplasia	1297	COL9A1	OMIM:614135
HP:0002652	Skeletal dysplasia	374654	KIF7	OMIM:607131
HP:0002652	Skeletal dysplasia	374654	KIF7	ORPHA:166024
HP:0002652	Skeletal dysplasia	6134	RPL10	OMIM:300998
HP:0002652	Skeletal dysplasia	6134	RPL10	ORPHA:459070
HP:0002652	Skeletal dysplasia	9469	CHST3	OMIM:143095
HP:0002652	Skeletal dysplasia	64802	NMNAT1	OMIM:619260
HP:0002652	Skeletal dysplasia	8720	MBTPS1	OMIM:618392
HP:0002652	Skeletal dysplasia	1301	COL11A1	OMIM:604841
HP:0002652	Skeletal dysplasia	50485	SMARCAL1	ORPHA:1830
HP:0002652	Skeletal dysplasia	50485	SMARCAL1	OMIM:242900
HP:0002652	Skeletal dysplasia	8838	CCN6	ORPHA:1159
HP:0002652	Skeletal dysplasia	50628	GEMIN4	OMIM:617913
HP:0002652	Skeletal dysplasia	64131	XYLT1	OMIM:615777
HP:0002652	Skeletal dysplasia	55858	TMEM165	OMIM:614727
HP:0002652	Skeletal dysplasia	124583	CANT1	OMIM:617719
HP:0002652	Skeletal dysplasia	2317	FLNB	OMIM:272460
HP:0002652	Skeletal dysplasia	1302	COL11A2	ORPHA:1427
HP:0002652	Skeletal dysplasia	1302	COL11A2	OMIM:184840
HP:0002652	Skeletal dysplasia	1302	COL11A2	OMIM:215150
HP:0002652	Skeletal dysplasia	411	ARSB	OMIM:253200
HP:0002652	Skeletal dysplasia	1298	COL9A2	OMIM:600204
HP:0002652	Skeletal dysplasia	1298	COL9A2	ORPHA:250984
HP:0002652	Skeletal dysplasia	1311	COMP	OMIM:132400
HP:0002652	Skeletal dysplasia	1299	COL9A3	OMIM:600969
HP:0002652	Skeletal dysplasia	1299	COL9A3	ORPHA:250984
HP:0002652	Skeletal dysplasia	3313	HSPA9	OMIM:616854
HP:0002652	Skeletal dysplasia	1806	DPYD	ORPHA:1675
HP:0002652	Skeletal dysplasia	2137	EXTL3	OMIM:617425
HP:0002652	Skeletal dysplasia	4882	NPR2	OMIM:615923
HP:0002652	Skeletal dysplasia	1028	CDKN1C	OMIM:614732
HP:0002652	Skeletal dysplasia	2799	GNS	OMIM:252940
HP:0002652	Skeletal dysplasia	4054	LTBP3	OMIM:617809
HP:0002652	Skeletal dysplasia	2335	FN1	OMIM:184255
HP:0002652	Skeletal dysplasia	54	ACP5	OMIM:607944
HP:0002652	Skeletal dysplasia	9321	TRIP11	OMIM:184260
HP:0002652	Skeletal dysplasia	2879	GPX4	ORPHA:93317
HP:0002652	Skeletal dysplasia	2879	GPX4	OMIM:250220
HP:0002652	Skeletal dysplasia	51025	PAM16	OMIM:613320
HP:0002652	Skeletal dysplasia	755	CFAP410	OMIM:602271
HP:0002652	Skeletal dysplasia	5130	PCYT1A	OMIM:608940
HP:0002652	Skeletal dysplasia	3930	LBR	OMIM:215140
HP:0002652	Skeletal dysplasia	57539	WDR35	ORPHA:93271
HP:0002652	Skeletal dysplasia	9401	RECQL4	ORPHA:221016
HP:0002652	Skeletal dysplasia	246329	STAC3	OMIM:255995
HP:0002652	Skeletal dysplasia	64682	ANAPC1	ORPHA:221008
HP:0002652	Skeletal dysplasia	1300	COL10A1	OMIM:156500
HP:0002652	Skeletal dysplasia	6729	SRP54	OMIM:260400
HP:0002652	Skeletal dysplasia	51119	SBDS	OMIM:260400
HP:0002652	Skeletal dysplasia	51119	SBDS	ORPHA:811
HP:0002652	Skeletal dysplasia	10013	HDAC6	ORPHA:163966
HP:0002652	Skeletal dysplasia	10195	ALG3	ORPHA:79321
HP:0002652	Skeletal dysplasia	79631	EFL1	ORPHA:811
HP:0002652	Skeletal dysplasia	79639	TMEM53	OMIM:619727
HP:0002652	Skeletal dysplasia	161742	SPRED1	ORPHA:137605
HP:0002652	Skeletal dysplasia	6916	TBXAS1	OMIM:231095
HP:0002652	Skeletal dysplasia	4763	NF1	ORPHA:97685
HP:0002652	Skeletal dysplasia	9361	LONP1	OMIM:600373
HP:0002652	Skeletal dysplasia	10940	POP1	OMIM:617396
HP:0002652	Skeletal dysplasia	6424	SFRP4	OMIM:265900
HP:0002652	Skeletal dysplasia	134218	DNAJC21	OMIM:617052
HP:0002652	Skeletal dysplasia	579	NKX3-2	OMIM:613330
HP:0002652	Skeletal dysplasia	79705	LRRK1	OMIM:615198
HP:0002652	Skeletal dysplasia	55325	UFSP2	OMIM:617974
HP:0002652	Skeletal dysplasia	10283	CWC27	OMIM:250410
HP:0002652	Skeletal dysplasia	5286	PIK3C2A	ORPHA:557003
HP:0002652	Skeletal dysplasia	5426	POLE	OMIM:618336
HP:0002652	Skeletal dysplasia	5426	POLE	ORPHA:85173
HP:0002652	Skeletal dysplasia	3417	IDH1	ORPHA:99646
HP:0005684	Distal arthrogryposis	23389	MED13L	ORPHA:369891
HP:0005684	Distal arthrogryposis	2737	GLI3	ORPHA:672
HP:0005684	Distal arthrogryposis	1718	DHCR24	OMIM:602398
HP:0005684	Distal arthrogryposis	4626	MYH8	OMIM:158300
HP:0005684	Distal arthrogryposis	4626	MYH8	OMIM:608837
HP:0005684	Distal arthrogryposis	7528	YY1	ORPHA:506358
HP:0005684	Distal arthrogryposis	7528	YY1	OMIM:617557
HP:0005684	Distal arthrogryposis	342035	GLDN	OMIM:617194
HP:0005684	Distal arthrogryposis	34	ACADM	ORPHA:42
HP:0005684	Distal arthrogryposis	57003	CCDC47	OMIM:618268
HP:0005684	Distal arthrogryposis	63895	PIEZO2	OMIM:114300
HP:0005684	Distal arthrogryposis	63895	PIEZO2	OMIM:108145
HP:0005684	Distal arthrogryposis	112	ADCY6	OMIM:616287
HP:0005684	Distal arthrogryposis	8506	CNTNAP1	OMIM:616286
HP:0005684	Distal arthrogryposis	4897	NRCAM	OMIM:619833
HP:0005684	Distal arthrogryposis	9289	ADGRG1	ORPHA:98889
HP:0005684	Distal arthrogryposis	5297	PI4KA	ORPHA:98889
HP:0005684	Distal arthrogryposis	27286	SRPX2	ORPHA:98889
HP:0005684	Distal arthrogryposis	7136	TNNI2	OMIM:601680
HP:0005684	Distal arthrogryposis	113189	CHST14	OMIM:601776
HP:0005684	Distal arthrogryposis	51117	COQ4	OMIM:616276
HP:0005684	Distal arthrogryposis	4649	MYO9A	OMIM:618198
HP:0005684	Distal arthrogryposis	84896	ATAD1	OMIM:618011
HP:0005684	Distal arthrogryposis	4604	MYBPC1	OMIM:614335
HP:0005684	Distal arthrogryposis	4604	MYBPC1	OMIM:614915
HP:0005684	Distal arthrogryposis	163175	LGI4	OMIM:617468
HP:0005684	Distal arthrogryposis	2201	FBN2	OMIM:121050
HP:0005684	Distal arthrogryposis	4654	MYOD1	OMIM:618975
HP:0005684	Distal arthrogryposis	8216	LZTR1	OMIM:605275
HP:0005684	Distal arthrogryposis	9896	FIG4	OMIM:611228
HP:0005684	Distal arthrogryposis	65055	REEP1	OMIM:620011
HP:0002542	Olivopontocerebellar atrophy	54902	TTC19	OMIM:615157
HP:0002542	Olivopontocerebellar atrophy	51360	MBTPS2	OMIM:308205
HP:0002542	Olivopontocerebellar atrophy	2074	ERCC6	OMIM:278800
HP:0002542	Olivopontocerebellar atrophy	27235	COQ2	OMIM:146500
HP:0002542	Olivopontocerebellar atrophy	6310	ATXN1	OMIM:164400
HP:0002542	Olivopontocerebellar atrophy	6314	ATXN7	OMIM:164500
HP:0002542	Olivopontocerebellar atrophy	6311	ATXN2	OMIM:183090
HP:0005682	Talocalcaneal synostosis	9496	TBX4	OMIM:147891
HP:0005681	Juvenile rheumatoid arthritis	64421	DCLRE1C	ORPHA:275
HP:0005681	Juvenile rheumatoid arthritis	54	ACP5	OMIM:607944
HP:0005681	Juvenile rheumatoid arthritis	54	ACP5	ORPHA:1855
HP:0005681	Juvenile rheumatoid arthritis	144811	LACC1	ORPHA:85414
HP:0005681	Juvenile rheumatoid arthritis	4282	MIF	ORPHA:85414
HP:0005681	Juvenile rheumatoid arthritis	3123	HLA-DRB1	ORPHA:85414
HP:0005681	Juvenile rheumatoid arthritis	3569	IL6	ORPHA:85414
HP:0005679	Dupuytren contracture	3798	KIF5A	ORPHA:100991
HP:0002450	Abnormal motor neuron morphology	57679	ALS2	OMIM:205100
HP:0002450	Abnormal motor neuron morphology	57679	ALS2	OMIM:606353
HP:0002450	Abnormal motor neuron morphology	57679	ALS2	ORPHA:247604
HP:0002450	Abnormal motor neuron morphology	10908	PNPLA6	OMIM:215470
HP:0002450	Abnormal motor neuron morphology	9782	MATR3	OMIM:606070
HP:0002450	Abnormal motor neuron morphology	2632	GBE1	OMIM:263570
HP:0002450	Abnormal motor neuron morphology	6687	SPG7	ORPHA:35689
HP:0002450	Abnormal motor neuron morphology	2521	FUS	ORPHA:275872
HP:0002450	Abnormal motor neuron morphology	8878	SQSTM1	ORPHA:275872
HP:0002450	Abnormal motor neuron morphology	23435	TARDBP	ORPHA:275872
HP:0002450	Abnormal motor neuron morphology	29110	TBK1	ORPHA:275872
HP:0002450	Abnormal motor neuron morphology	400916	CHCHD10	ORPHA:275872
HP:0002450	Abnormal motor neuron morphology	11160	ERLIN2	ORPHA:247604
HP:0002450	Abnormal motor neuron morphology	7305	TYROBP	OMIM:221770
HP:0002450	Abnormal motor neuron morphology	5832	ALDH18A1	OMIM:601162
HP:0002450	Abnormal motor neuron morphology	23064	SETX	OMIM:602433
HP:0002450	Abnormal motor neuron morphology	427	ASAH1	ORPHA:2590
HP:0002450	Abnormal motor neuron morphology	83636	C19orf12	OMIM:614298
HP:0002450	Abnormal motor neuron morphology	57449	PLEKHG5	OMIM:611067
HP:0002450	Abnormal motor neuron morphology	1639	DCTN1	OMIM:607641
HP:0002450	Abnormal motor neuron morphology	4287	ATXN3	ORPHA:276244
HP:0002450	Abnormal motor neuron morphology	54822	TRPM7	OMIM:105500
HP:0002450	Abnormal motor neuron morphology	80208	SPG11	OMIM:602099
HP:0002450	Abnormal motor neuron morphology	203228	C9orf72	OMIM:105550
HP:0002450	Abnormal motor neuron morphology	55187	VPS13D	ORPHA:95434
HP:0002450	Abnormal motor neuron morphology	27072	VPS41	ORPHA:95434
HP:0002450	Abnormal motor neuron morphology	25978	CHMP2B	ORPHA:100070
HP:0002450	Abnormal motor neuron morphology	5663	PSEN1	ORPHA:100070
HP:0002450	Abnormal motor neuron morphology	2896	GRN	ORPHA:100070
HP:0002450	Abnormal motor neuron morphology	54664	TMEM106B	ORPHA:100070
HP:0002450	Abnormal motor neuron morphology	4137	MAPT	ORPHA:100070
HP:0002450	Abnormal motor neuron morphology	54209	TREM2	ORPHA:100070
HP:0002450	Abnormal motor neuron morphology	65250	CPLANE1	ORPHA:65684
HP:0002450	Abnormal motor neuron morphology	57562	CEP126	ORPHA:65684
HP:0002450	Abnormal motor neuron morphology	6606	SMN1	OMIM:253550
HP:0002450	Abnormal motor neuron morphology	6606	SMN1	OMIM:271150
HP:0002450	Abnormal motor neuron morphology	6606	SMN1	OMIM:253400
HP:0002450	Abnormal motor neuron morphology	11340	EXOSC8	ORPHA:2254
HP:0002450	Abnormal motor neuron morphology	5393	EXOSC9	ORPHA:2254
HP:0002450	Abnormal motor neuron morphology	23287	AGTPBP1	ORPHA:2254
HP:0002450	Abnormal motor neuron morphology	51010	EXOSC3	ORPHA:2254
HP:0002450	Abnormal motor neuron morphology	7443	VRK1	ORPHA:2254
HP:0002450	Abnormal motor neuron morphology	7443	VRK1	OMIM:607596
HP:0002450	Abnormal motor neuron morphology	91137	SLC25A46	ORPHA:2254
HP:0002450	Abnormal motor neuron morphology	10342	TFG	OMIM:604484
HP:0002450	Abnormal motor neuron morphology	3508	IGHMBP2	OMIM:604320
HP:0002450	Abnormal motor neuron morphology	6607	SMN2	OMIM:253400
HP:0002450	Abnormal motor neuron morphology	3178	HNRNPA1	ORPHA:52430
HP:0002450	Abnormal motor neuron morphology	7415	VCP	ORPHA:52430
HP:0002450	Abnormal motor neuron morphology	3181	HNRNPA2B1	ORPHA:52430
HP:0002450	Abnormal motor neuron morphology	2733	GLE1	OMIM:611890
HP:0002450	Abnormal motor neuron morphology	7317	UBA1	ORPHA:1145
HP:0002450	Abnormal motor neuron morphology	1540	CYLD	OMIM:619132
HP:0002450	Abnormal motor neuron morphology	7072	TIA1	OMIM:619133
HP:0002450	Abnormal motor neuron morphology	7277	TUBA4A	OMIM:616208
HP:0002450	Abnormal motor neuron morphology	10280	SIGMAR1	ORPHA:300605
HP:0002450	Abnormal motor neuron morphology	10280	SIGMAR1	OMIM:614373
HP:0002450	Abnormal motor neuron morphology	10558	SPTLC1	ORPHA:300605
HP:0002450	Abnormal motor neuron morphology	3798	KIF5A	OMIM:617921
HP:0002450	Abnormal motor neuron morphology	55131	RBM28	ORPHA:157954
HP:0002450	Abnormal motor neuron morphology	8148	TAF15	ORPHA:803
HP:0002450	Abnormal motor neuron morphology	5445	PON2	ORPHA:803
HP:0002450	Abnormal motor neuron morphology	9217	VAPB	ORPHA:803
HP:0002450	Abnormal motor neuron morphology	5630	PRPH	ORPHA:803
HP:0002450	Abnormal motor neuron morphology	55830	GLT8D1	ORPHA:803
HP:0002450	Abnormal motor neuron morphology	755	CFAP410	ORPHA:803
HP:0002450	Abnormal motor neuron morphology	10891	PPARGC1A	ORPHA:803
HP:0002450	Abnormal motor neuron morphology	6647	SOD1	ORPHA:803
HP:0002450	Abnormal motor neuron morphology	10133	OPTN	ORPHA:803
HP:0002450	Abnormal motor neuron morphology	9896	FIG4	ORPHA:803
HP:0002450	Abnormal motor neuron morphology	5444	PON1	ORPHA:803
HP:0002450	Abnormal motor neuron morphology	5446	PON3	ORPHA:803
HP:0002450	Abnormal motor neuron morphology	4744	NEFH	ORPHA:803
HP:0002450	Abnormal motor neuron morphology	5216	PFN1	ORPHA:803
HP:0002450	Abnormal motor neuron morphology	283	ANG	ORPHA:803
HP:0002450	Abnormal motor neuron morphology	29978	UBQLN2	ORPHA:803
HP:0002450	Abnormal motor neuron morphology	4750	NEK1	ORPHA:803
HP:0002450	Abnormal motor neuron morphology	6311	ATXN2	ORPHA:803
HP:0002450	Abnormal motor neuron morphology	1610	DAO	ORPHA:803
HP:0002450	Abnormal motor neuron morphology	2066	ERBB4	ORPHA:803
HP:0002450	Abnormal motor neuron morphology	311	ANXA11	ORPHA:803
HP:0002450	Abnormal motor neuron morphology	23025	UNC13A	ORPHA:803
HP:0002450	Abnormal motor neuron morphology	899	CCNF	ORPHA:803
HP:0002450	Abnormal motor neuron morphology	5575	PRKAR1B	ORPHA:412066
HP:0002451	Limb dystonia	2639	GCDH	ORPHA:25
HP:0002451	Limb dystonia	9997	SCO2	OMIM:604377
HP:0002451	Limb dystonia	4137	MAPT	OMIM:601104
HP:0002451	Limb dystonia	2774	GNAL	OMIM:615073
HP:0002451	Limb dystonia	2774	GNAL	ORPHA:329466
HP:0002451	Limb dystonia	51102	MECR	ORPHA:508093
HP:0002451	Limb dystonia	57680	CHD8	OMIM:615032
HP:0002451	Limb dystonia	23516	SLC39A14	OMIM:617013
HP:0002451	Limb dystonia	58494	JAM2	OMIM:618824
HP:0002451	Limb dystonia	2643	GCH1	ORPHA:98808
HP:0002451	Limb dystonia	4929	NR4A2	ORPHA:98808
HP:0002451	Limb dystonia	3615	IMPDH2	ORPHA:98808
HP:0002451	Limb dystonia	54832	VPS13C	OMIM:616840
HP:0002451	Limb dystonia	6531	SLC6A3	OMIM:613135
HP:0002451	Limb dystonia	55145	THAP1	ORPHA:98806
HP:0002451	Limb dystonia	55145	THAP1	OMIM:602629
HP:0002451	Limb dystonia	347734	SLC35B2	OMIM:620269
HP:0002451	Limb dystonia	55823	VPS11	OMIM:619637
HP:0002451	Limb dystonia	1282	COL4A1	OMIM:175780
HP:0002451	Limb dystonia	9256	TSPOAP1	ORPHA:101150
HP:0002451	Limb dystonia	7054	TH	ORPHA:101150
HP:0002451	Limb dystonia	7054	TH	OMIM:605407
HP:0002451	Limb dystonia	6571	SLC18A2	ORPHA:352649
HP:0002451	Limb dystonia	1528	CYB5A	ORPHA:621
HP:0002451	Limb dystonia	1727	CYB5R3	ORPHA:621
HP:0002451	Limb dystonia	6872	TAF1	ORPHA:53351
HP:0002451	Limb dystonia	3208	HPCA	ORPHA:99657
HP:0002451	Limb dystonia	9690	UBE3C	OMIM:620270
HP:0002451	Limb dystonia	26576	SRPK3	OMIM:301134
HP:0002451	Limb dystonia	170302	ARX	ORPHA:94083
HP:0002451	Limb dystonia	170302	ARX	OMIM:309510
HP:0002451	Limb dystonia	26580	BSCL2	ORPHA:363400
HP:0002451	Limb dystonia	90522	YIF1B	OMIM:619125
HP:0002451	Limb dystonia	5610	EIF2AK2	OMIM:619687
HP:0002451	Limb dystonia	10939	AFG3L2	ORPHA:101109
HP:0002451	Limb dystonia	1841	DTYMK	OMIM:619847
HP:0002451	Limb dystonia	2782	GNB1	OMIM:616973
HP:0002451	Limb dystonia	1293	COL6A3	OMIM:616411
HP:0002451	Limb dystonia	1293	COL6A3	ORPHA:464440
HP:0002451	Limb dystonia	16	AARS1	OMIM:616339
HP:0002451	Limb dystonia	128486	FITM2	OMIM:618635
HP:0002451	Limb dystonia	1644	DDC	OMIM:608643
HP:0002451	Limb dystonia	540	ATP7B	OMIM:277900
HP:0002451	Limb dystonia	150468	CKAP2L	ORPHA:3255
HP:0002451	Limb dystonia	63982	ANO3	ORPHA:420485
HP:0002451	Limb dystonia	87178	PNPT1	ORPHA:319514
HP:0002451	Limb dystonia	137492	VPS37A	ORPHA:319199
HP:0002451	Limb dystonia	8575	PRKRA	ORPHA:210571
HP:0002451	Limb dystonia	8575	PRKRA	OMIM:612067
HP:0002451	Limb dystonia	80025	PANK2	ORPHA:216873
HP:0002451	Limb dystonia	116228	COX20	OMIM:619054
HP:0002451	Limb dystonia	166378	AFG2A	ORPHA:457351
HP:0002451	Limb dystonia	2260	FGFR1	ORPHA:220386
HP:0002451	Limb dystonia	2260	FGFR1	ORPHA:93924
HP:0002451	Limb dystonia	28514	DLL1	ORPHA:220386
HP:0002451	Limb dystonia	28514	DLL1	ORPHA:93926
HP:0002451	Limb dystonia	28514	DLL1	ORPHA:93924
HP:0002451	Limb dystonia	28514	DLL1	ORPHA:93925
HP:0002451	Limb dystonia	10735	STAG2	ORPHA:220386
HP:0002451	Limb dystonia	10735	STAG2	ORPHA:93925
HP:0002451	Limb dystonia	2253	FGF8	ORPHA:220386
HP:0002451	Limb dystonia	2253	FGF8	ORPHA:93926
HP:0002451	Limb dystonia	2253	FGF8	ORPHA:93924
HP:0002451	Limb dystonia	2253	FGF8	ORPHA:93925
HP:0002451	Limb dystonia	8243	SMC1A	ORPHA:220386
HP:0002451	Limb dystonia	6496	SIX3	ORPHA:220386
HP:0002451	Limb dystonia	6496	SIX3	ORPHA:93926
HP:0002451	Limb dystonia	6496	SIX3	ORPHA:93924
HP:0002451	Limb dystonia	6496	SIX3	ORPHA:93925
HP:0002451	Limb dystonia	7050	TGIF1	ORPHA:220386
HP:0002451	Limb dystonia	7050	TGIF1	ORPHA:93926
HP:0002451	Limb dystonia	7050	TGIF1	ORPHA:93924
HP:0002451	Limb dystonia	7050	TGIF1	ORPHA:93925
HP:0002451	Limb dystonia	4838	NODAL	ORPHA:220386
HP:0002451	Limb dystonia	4838	NODAL	ORPHA:93926
HP:0002451	Limb dystonia	4838	NODAL	ORPHA:93924
HP:0002451	Limb dystonia	4838	NODAL	ORPHA:93925
HP:0002451	Limb dystonia	6469	SHH	ORPHA:220386
HP:0002451	Limb dystonia	6469	SHH	ORPHA:93926
HP:0002451	Limb dystonia	6469	SHH	ORPHA:93924
HP:0002451	Limb dystonia	6469	SHH	ORPHA:93925
HP:0002451	Limb dystonia	7546	ZIC2	ORPHA:220386
HP:0002451	Limb dystonia	7546	ZIC2	ORPHA:93926
HP:0002451	Limb dystonia	7546	ZIC2	ORPHA:93924
HP:0002451	Limb dystonia	7546	ZIC2	ORPHA:93925
HP:0002451	Limb dystonia	6491	STIL	ORPHA:220386
HP:0002451	Limb dystonia	6491	STIL	ORPHA:93926
HP:0002451	Limb dystonia	6491	STIL	ORPHA:93924
HP:0002451	Limb dystonia	6491	STIL	ORPHA:93925
HP:0002451	Limb dystonia	2619	GAS1	ORPHA:220386
HP:0002451	Limb dystonia	2619	GAS1	ORPHA:93926
HP:0002451	Limb dystonia	2619	GAS1	ORPHA:93924
HP:0002451	Limb dystonia	2619	GAS1	ORPHA:93925
HP:0002451	Limb dystonia	84976	DISP1	ORPHA:220386
HP:0002451	Limb dystonia	84976	DISP1	ORPHA:93926
HP:0002451	Limb dystonia	84976	DISP1	ORPHA:93924
HP:0002451	Limb dystonia	84976	DISP1	ORPHA:93925
HP:0002451	Limb dystonia	2736	GLI2	ORPHA:220386
HP:0002451	Limb dystonia	2736	GLI2	ORPHA:93926
HP:0002451	Limb dystonia	2736	GLI2	ORPHA:93924
HP:0002451	Limb dystonia	2736	GLI2	ORPHA:93925
HP:0002451	Limb dystonia	8928	FOXH1	ORPHA:220386
HP:0002451	Limb dystonia	8928	FOXH1	ORPHA:93926
HP:0002451	Limb dystonia	8928	FOXH1	ORPHA:93924
HP:0002451	Limb dystonia	8928	FOXH1	ORPHA:93925
HP:0002451	Limb dystonia	6997	CRIPTO	ORPHA:220386
HP:0002451	Limb dystonia	6997	CRIPTO	ORPHA:93926
HP:0002451	Limb dystonia	6997	CRIPTO	ORPHA:93924
HP:0002451	Limb dystonia	6997	CRIPTO	ORPHA:93925
HP:0002451	Limb dystonia	5727	PTCH1	ORPHA:220386
HP:0002451	Limb dystonia	5727	PTCH1	ORPHA:93926
HP:0002451	Limb dystonia	5727	PTCH1	ORPHA:93924
HP:0002451	Limb dystonia	5727	PTCH1	ORPHA:93925
HP:0002451	Limb dystonia	50937	CDON	ORPHA:220386
HP:0002451	Limb dystonia	50937	CDON	ORPHA:93926
HP:0002451	Limb dystonia	50937	CDON	ORPHA:93924
HP:0002451	Limb dystonia	50937	CDON	ORPHA:93925
HP:0002451	Limb dystonia	84504	NKX6-2	OMIM:617560
HP:0002451	Limb dystonia	478	ATP1A3	ORPHA:71517
HP:0002451	Limb dystonia	10352	WARS2	ORPHA:572798
HP:0002451	Limb dystonia	23230	VPS13A	ORPHA:2388
HP:0002451	Limb dystonia	23007	PLCH1	ORPHA:93925
HP:0002451	Limb dystonia	10382	TUBB4A	OMIM:128101
HP:0002451	Limb dystonia	53371	NUP54	OMIM:620427
HP:0002451	Limb dystonia	60	ACTB	OMIM:607371
HP:0002451	Limb dystonia	11315	PARK7	OMIM:606324
HP:0002451	Limb dystonia	9757	KMT2B	ORPHA:589618
HP:0002451	Limb dystonia	2512	FTL	ORPHA:157846
HP:0002451	Limb dystonia	64601	VPS16	OMIM:619291
HP:0002451	Limb dystonia	84340	GFM2	ORPHA:565624
HP:0002451	Limb dystonia	84909	AOPEP	OMIM:619565
HP:0002451	Limb dystonia	57679	ALS2	OMIM:205100
HP:0002451	Limb dystonia	57679	ALS2	ORPHA:300605
HP:0002451	Limb dystonia	2521	FUS	ORPHA:300605
HP:0002451	Limb dystonia	80208	SPG11	ORPHA:300605
HP:0002451	Limb dystonia	10280	SIGMAR1	ORPHA:300605
HP:0002451	Limb dystonia	10558	SPTLC1	ORPHA:300605
HP:0002451	Limb dystonia	55361	PI4K2A	OMIM:620732
HP:0002451	Limb dystonia	1737	DLAT	ORPHA:79244
HP:0002451	Limb dystonia	23345	SYNE1	ORPHA:88644
HP:0001297	Stroke	4524	MTHFR	ORPHA:395
HP:0001297	Stroke	4524	MTHFR	OMIM:236250
HP:0001297	Stroke	7428	VHL	OMIM:263400
HP:0001297	Stroke	7428	VHL	ORPHA:892
HP:0001297	Stroke	6331	SCN5A	OMIM:614022
HP:0001297	Stroke	6331	SCN5A	OMIM:601154
HP:0001297	Stroke	55503	TRPV6	OMIM:618188
HP:0001297	Stroke	7148	TNXB	ORPHA:230839
HP:0001297	Stroke	1161	ERCC8	ORPHA:90324
HP:0001297	Stroke	2074	ERCC6	ORPHA:90324
HP:0001297	Stroke	5009	OTC	OMIM:311250
HP:0001297	Stroke	4625	MYH7	ORPHA:1880
HP:0001297	Stroke	2997	GYS1	OMIM:611556
HP:0001297	Stroke	7174	TPP2	ORPHA:444463
HP:0001297	Stroke	2908	NR3C1	ORPHA:786
HP:0001297	Stroke	2908	NR3C1	ORPHA:96253
HP:0001297	Stroke	351	APP	ORPHA:324713
HP:0001297	Stroke	351	APP	ORPHA:324703
HP:0001297	Stroke	351	APP	ORPHA:324708
HP:0001297	Stroke	351	APP	ORPHA:100006
HP:0001297	Stroke	351	APP	OMIM:605714
HP:0001297	Stroke	9342	SNAP29	ORPHA:66631
HP:0001297	Stroke	30008	EFEMP2	OMIM:614437
HP:0001297	Stroke	10560	SLC19A2	ORPHA:49827
HP:0001297	Stroke	10560	SLC19A2	OMIM:249270
HP:0001297	Stroke	11093	ADAMTS13	OMIM:274150
HP:0001297	Stroke	5573	PRKAR1A	ORPHA:1359
HP:0001297	Stroke	50940	PDE11A	ORPHA:1359
HP:0001297	Stroke	51816	ADA2	OMIM:182410
HP:0001297	Stroke	51816	ADA2	OMIM:615688
HP:0001297	Stroke	84196	USP48	ORPHA:96253
HP:0001297	Stroke	7157	TP53	ORPHA:96253
HP:0001297	Stroke	9101	USP8	ORPHA:96253
HP:0001297	Stroke	64072	CDH23	ORPHA:96253
HP:0001297	Stroke	673	BRAF	ORPHA:96253
HP:0001297	Stroke	546	ATRX	ORPHA:96253
HP:0001297	Stroke	3043	HBB	OMIM:603903
HP:0001297	Stroke	9149	DYRK1B	OMIM:615812
HP:0001297	Stroke	3717	JAK2	ORPHA:729
HP:0001297	Stroke	4629	MYH11	OMIM:132900
HP:0001297	Stroke	4629	MYH11	ORPHA:229
HP:0001297	Stroke	4629	MYH11	ORPHA:91387
HP:0001297	Stroke	5346	PLIN1	OMIM:613877
HP:0001297	Stroke	55107	ANO1	OMIM:620687
HP:0001297	Stroke	2717	GLA	ORPHA:324
HP:0001297	Stroke	128989	TANGO2	ORPHA:480864
HP:0001297	Stroke	5277	PIGA	ORPHA:447
HP:0001297	Stroke	3291	HSD11B2	ORPHA:320
HP:0001297	Stroke	2318	FLNC	OMIM:617047
HP:0001297	Stroke	2318	FLNC	ORPHA:75249
HP:0001297	Stroke	4204	MECP2	ORPHA:3077
HP:0001297	Stroke	4763	NF1	ORPHA:97685
HP:0001297	Stroke	4089	SMAD4	OMIM:175050
HP:0001297	Stroke	4089	SMAD4	ORPHA:91387
HP:0001297	Stroke	10370	CITED2	ORPHA:99105
HP:0001297	Stroke	10370	CITED2	ORPHA:99103
HP:0001297	Stroke	4854	NOTCH3	OMIM:125310
HP:0001297	Stroke	4854	NOTCH3	ORPHA:136
HP:0001297	Stroke	1471	CST3	OMIM:105150
HP:0001297	Stroke	1471	CST3	ORPHA:100008
HP:0001297	Stroke	7092	TLL1	ORPHA:99103
HP:0001297	Stroke	57057	TBX20	ORPHA:99103
HP:0001297	Stroke	4624	MYH6	ORPHA:99103
HP:0001297	Stroke	1482	NKX2-5	ORPHA:99103
HP:0001297	Stroke	70	ACTC1	ORPHA:99103
HP:0001297	Stroke	2626	GATA4	ORPHA:99103
HP:0001297	Stroke	2627	GATA6	ORPHA:99103
HP:0001297	Stroke	5654	HTRA1	ORPHA:199354
HP:0001297	Stroke	5654	HTRA1	OMIM:616779
HP:0001297	Stroke	5654	HTRA1	OMIM:600142
HP:0001297	Stroke	4607	MYBPC3	OMIM:115197
HP:0001297	Stroke	11277	TREX1	OMIM:192315
HP:0001297	Stroke	5167	ENPP1	ORPHA:51608
HP:0001297	Stroke	5167	ENPP1	ORPHA:758
HP:0001297	Stroke	368	ABCC6	ORPHA:51608
HP:0001297	Stroke	368	ABCC6	OMIM:264800
HP:0001297	Stroke	368	ABCC6	ORPHA:758
HP:0001297	Stroke	6804	STX1A	ORPHA:904
HP:0001297	Stroke	7461	CLIP2	ORPHA:904
HP:0001297	Stroke	84277	DNAJC30	ORPHA:904
HP:0001297	Stroke	8468	FKBP6	ORPHA:904
HP:0001297	Stroke	5982	RFC2	ORPHA:904
HP:0001297	Stroke	2969	GTF2I	ORPHA:904
HP:0001297	Stroke	3984	LIMK1	ORPHA:904
HP:0001297	Stroke	9569	GTF2IRD1	ORPHA:904
HP:0001297	Stroke	155382	VPS37D	ORPHA:904
HP:0001297	Stroke	155368	METTL27	ORPHA:904
HP:0001297	Stroke	114049	BUD23	ORPHA:904
HP:0001297	Stroke	7458	EIF4H	ORPHA:904
HP:0001297	Stroke	84163	GTF2IRD2	ORPHA:904
HP:0001297	Stroke	26608	TBL2	ORPHA:904
HP:0001297	Stroke	653361	NCF1	ORPHA:904
HP:0001297	Stroke	135886	TMEM270	ORPHA:904
HP:0001297	Stroke	9031	BAZ1B	ORPHA:904
HP:0001297	Stroke	2006	ELN	ORPHA:904
HP:0001297	Stroke	2006	ELN	OMIM:194050
HP:0001297	Stroke	2006	ELN	ORPHA:91387
HP:0001297	Stroke	84665	MYPN	ORPHA:75249
HP:0001297	Stroke	7139	TNNT2	ORPHA:75249
HP:0001297	Stroke	7137	TNNI3	ORPHA:75249
HP:0001297	Stroke	10112	KIF20A	ORPHA:75249
HP:0001297	Stroke	83605	CCM2	OMIM:603284
HP:0001297	Stroke	189	AGXT	ORPHA:93598
HP:0001297	Stroke	4000	LMNA	ORPHA:740
HP:0001297	Stroke	10269	ZMPSTE24	ORPHA:740
HP:0001297	Stroke	2316	FLNA	OMIM:300049
HP:0001297	Stroke	64131	XYLT1	OMIM:264800
HP:0001297	Stroke	64132	XYLT2	OMIM:264800
HP:0001297	Stroke	80206	FHOD3	OMIM:619402
HP:0001297	Stroke	2982	GUCY1A1	ORPHA:401945
HP:0001297	Stroke	50485	SMARCAL1	ORPHA:1830
HP:0001297	Stroke	50485	SMARCAL1	OMIM:242900
HP:0001297	Stroke	7276	TTR	ORPHA:85451
HP:0001297	Stroke	182	JAG1	OMIM:118450
HP:0001297	Stroke	28976	ACAD9	OMIM:611126
HP:0001297	Stroke	51085	MLXIPL	OMIM:194050
HP:0001297	Stroke	595	CCND1	ORPHA:892
HP:0001297	Stroke	126792	B3GALT6	ORPHA:536467
HP:0001297	Stroke	2147	F2	OMIM:601367
HP:0001297	Stroke	4846	NOS3	OMIM:601367
HP:0001297	Stroke	5583	PRKCH	OMIM:601367
HP:0001297	Stroke	2153	F5	OMIM:601367
HP:0001297	Stroke	241	ALOX5AP	OMIM:601367
HP:0001297	Stroke	727676	SNORD118	ORPHA:542310
HP:0001297	Stroke	5116	PCNT	ORPHA:2637
HP:0001297	Stroke	162417	NAGS	ORPHA:927
HP:0001297	Stroke	25974	MMACHC	ORPHA:79282
HP:0001297	Stroke	445	ASS1	OMIM:215700
HP:0001297	Stroke	875	CBS	OMIM:236200
HP:0001297	Stroke	3593	IL12B	ORPHA:3287
HP:0001297	Stroke	3106	HLA-B	ORPHA:3287
HP:0001297	Stroke	6945	MLX	ORPHA:3287
HP:0001297	Stroke	5286	PIK3C2A	ORPHA:557003
HP:0001297	Stroke	2776	GNAQ	ORPHA:3205
HP:0001297	Stroke	4860	PNP	ORPHA:760
HP:0001297	Stroke	4615	MYD88	ORPHA:33226
HP:0001297	Stroke	4878	NPPA	OMIM:615745
HP:0001297	Stroke	1373	CPS1	OMIM:237300
HP:0001297	Stroke	7535	ZAP70	ORPHA:911
HP:0001297	Stroke	7046	TGFBR1	ORPHA:91387
HP:0001297	Stroke	7048	TGFBR2	ORPHA:91387
HP:0001297	Stroke	4015	LOX	ORPHA:91387
HP:0001297	Stroke	4087	SMAD2	ORPHA:91387
HP:0001297	Stroke	7043	TGFB3	ORPHA:91387
HP:0001297	Stroke	4088	SMAD3	ORPHA:91387
HP:0001297	Stroke	7042	TGFB2	ORPHA:91387
HP:0001297	Stroke	2200	FBN1	ORPHA:91387
HP:0001297	Stroke	59	ACTA2	ORPHA:91387
HP:0001297	Stroke	5592	PRKG1	ORPHA:91387
HP:0001297	Stroke	2301	FOXE3	ORPHA:91387
HP:0001297	Stroke	4144	MAT2A	ORPHA:91387
HP:0001297	Stroke	23493	HEY2	ORPHA:91387
HP:0001297	Stroke	8076	MFAP5	ORPHA:91387
HP:0001297	Stroke	4638	MYLK	ORPHA:91387
HP:0001297	Stroke	79875	THSD4	ORPHA:91387
HP:0001297	Stroke	4594	MMUT	ORPHA:79312
HP:0001297	Stroke	25978	CHMP2B	ORPHA:100070
HP:0001297	Stroke	5663	PSEN1	ORPHA:100070
HP:0001297	Stroke	2896	GRN	ORPHA:100070
HP:0001297	Stroke	54664	TMEM106B	ORPHA:100070
HP:0001297	Stroke	4137	MAPT	ORPHA:100070
HP:0001297	Stroke	54209	TREM2	ORPHA:100070
HP:0001297	Stroke	7415	VCP	ORPHA:100070
HP:0001297	Stroke	94	ACVRL1	OMIM:600376
HP:0001297	Stroke	2022	ENG	OMIM:187300
HP:0001297	Stroke	81031	SLC2A10	OMIM:208050
HP:0001297	Stroke	6651	SON	ORPHA:500150
HP:0001297	Stroke	79184	BRCC3	ORPHA:280679
HP:0001297	Stroke	1282	COL4A1	OMIM:175780
HP:0001297	Stroke	2783	GNB2	OMIM:619503
HP:0001297	Stroke	2658	GDF2	ORPHA:774
HP:0001297	Stroke	4352	MPL	ORPHA:71493
HP:0001297	Stroke	4352	MPL	ORPHA:3318
HP:0001297	Stroke	7066	THPO	ORPHA:71493
HP:0001297	Stroke	71	ACTG1	ORPHA:2995
HP:0001297	Stroke	60	ACTB	ORPHA:2995
HP:0001297	Stroke	1281	COL3A1	ORPHA:286
HP:0001297	Stroke	1281	COL3A1	ORPHA:231160
HP:0001297	Stroke	3845	KRAS	OMIM:600268
HP:0001297	Stroke	10019	SH2B3	ORPHA:3318
HP:0001297	Stroke	811	CALR	ORPHA:3318
HP:0001297	Stroke	54790	TET2	ORPHA:3318
HP:0001297	Stroke	57674	RNF213	OMIM:607151
HP:0001297	Stroke	55901	THSD1	ORPHA:231160
HP:0001297	Stroke	7049	TGFBR3	ORPHA:231160
HP:0001297	Stroke	83854	ANGPTL6	ORPHA:231160
HP:0001297	Stroke	5621	PRNP	ORPHA:282166
HP:0001297	Stroke	4702	NDUFA8	OMIM:619272
HP:0001297	Stroke	4574	MT-TS1	OMIM:540000
HP:0001297	Stroke	4574	MT-TS1	ORPHA:550
HP:0001297	Stroke	4575	MT-TS2	OMIM:540000
HP:0001297	Stroke	4575	MT-TS2	ORPHA:550
HP:0001297	Stroke	4535	MT-ND1	OMIM:540000
HP:0001297	Stroke	4535	MT-ND1	ORPHA:550
HP:0001297	Stroke	4567	MT-TL1	OMIM:540000
HP:0001297	Stroke	4567	MT-TL1	ORPHA:550
HP:0001297	Stroke	4512	MT-CO1	OMIM:540000
HP:0001297	Stroke	4512	MT-CO1	ORPHA:550
HP:0001297	Stroke	4513	MT-CO2	OMIM:540000
HP:0001297	Stroke	4513	MT-CO2	ORPHA:550
HP:0001297	Stroke	4514	MT-CO3	OMIM:540000
HP:0001297	Stroke	4514	MT-CO3	ORPHA:550
HP:0001297	Stroke	4519	MT-CYB	OMIM:540000
HP:0001297	Stroke	4519	MT-CYB	ORPHA:137675
HP:0001297	Stroke	4511	MT-TC	OMIM:540000
HP:0001297	Stroke	4572	MT-TQ	OMIM:540000
HP:0001297	Stroke	4572	MT-TQ	ORPHA:550
HP:0001297	Stroke	4577	MT-TV	OMIM:540000
HP:0001297	Stroke	4578	MT-TW	OMIM:540000
HP:0001297	Stroke	4578	MT-TW	ORPHA:550
HP:0001297	Stroke	4558	MT-TF	OMIM:540000
HP:0001297	Stroke	4558	MT-TF	ORPHA:550
HP:0001297	Stroke	4566	MT-TK	OMIM:540000
HP:0001297	Stroke	4540	MT-ND5	OMIM:540000
HP:0001297	Stroke	4540	MT-ND5	ORPHA:550
HP:0001297	Stroke	4541	MT-ND6	OMIM:540000
HP:0001297	Stroke	4541	MT-ND6	ORPHA:550
HP:0001297	Stroke	1798	DPAGT1	ORPHA:86309
HP:0001297	Stroke	7466	WFS1	OMIM:222300
HP:0001297	Stroke	4538	MT-ND4	ORPHA:550
HP:0001297	Stroke	4564	MT-TH	ORPHA:550
HP:0001297	Stroke	3980	LIG3	OMIM:619780
HP:0001297	Stroke	54344	DPM3	ORPHA:263494
HP:0001297	Stroke	6786	STIM1	OMIM:185070
HP:0001297	Stroke	91869	RFT1	ORPHA:244310
HP:0001297	Stroke	23600	AMACR	ORPHA:79095
HP:0001297	Stroke	129607	CMPK2	OMIM:621018
HP:0001297	Stroke	5373	PMM2	OMIM:212065
HP:0001297	Stroke	10128	LRPPRC	ORPHA:70472
HP:0001297	Stroke	79709	COLGALT1	OMIM:618360
HP:0001297	Stroke	4668	NAGA	OMIM:609242
HP:0002453	Abnormal globus pallidus morphology	1593	CYP27A1	ORPHA:909
HP:0002453	Abnormal globus pallidus morphology	80347	COASY	ORPHA:397725
HP:0002453	Abnormal globus pallidus morphology	3785	KCNQ2	ORPHA:439218
HP:0002453	Abnormal globus pallidus morphology	3712	IVD	ORPHA:33
HP:0002453	Abnormal globus pallidus morphology	5430	POLR2A	OMIM:618603
HP:0002453	Abnormal globus pallidus morphology	4594	MMUT	OMIM:251000
HP:0002453	Abnormal globus pallidus morphology	113612	CYP2U1	ORPHA:320411
HP:0002453	Abnormal globus pallidus morphology	55532	SLC30A10	ORPHA:309854
HP:0002453	Abnormal globus pallidus morphology	3417	IDH1	ORPHA:99646
HP:0002453	Abnormal globus pallidus morphology	11152	WDR45	OMIM:300894
HP:0002453	Abnormal globus pallidus morphology	2512	FTL	ORPHA:157846
HP:0002453	Abnormal globus pallidus morphology	27072	VPS41	OMIM:619389
HP:0002453	Abnormal globus pallidus morphology	83636	C19orf12	OMIM:614298
HP:0002453	Abnormal globus pallidus morphology	80025	PANK2	ORPHA:216866
HP:0002453	Abnormal globus pallidus morphology	80025	PANK2	OMIM:234200
HP:0002453	Abnormal globus pallidus morphology	79152	FA2H	ORPHA:171629
HP:0002453	Abnormal globus pallidus morphology	2495	FTH1	OMIM:620669
HP:0002453	Abnormal globus pallidus morphology	318	NUDT2	OMIM:619844
HP:0002453	Abnormal globus pallidus morphology	8398	PLA2G6	ORPHA:35069
HP:0002453	Abnormal globus pallidus morphology	1737	DLAT	ORPHA:79244
HP:0002453	Abnormal globus pallidus morphology	2639	GCDH	ORPHA:25
HP:0002453	Abnormal globus pallidus morphology	26523	AGO1	OMIM:620292
HP:0002453	Abnormal globus pallidus morphology	129607	CMPK2	OMIM:621018
HP:0002453	Abnormal globus pallidus morphology	79903	NAA60	OMIM:620786
HP:0002453	Abnormal globus pallidus morphology	23446	SLC44A1	OMIM:618868
HP:0002453	Abnormal globus pallidus morphology	9757	KMT2B	ORPHA:589618
HP:0002453	Abnormal globus pallidus morphology	54676	GTPBP2	OMIM:617988
HP:0002453	Abnormal globus pallidus morphology	64601	VPS16	OMIM:619291
HP:0002454	Eye of the tiger anomaly of globus pallidus	80347	COASY	ORPHA:397725
HP:0002454	Eye of the tiger anomaly of globus pallidus	11152	WDR45	OMIM:300894
HP:0002454	Eye of the tiger anomaly of globus pallidus	2512	FTL	ORPHA:157846
HP:0002454	Eye of the tiger anomaly of globus pallidus	27072	VPS41	OMIM:619389
HP:0002454	Eye of the tiger anomaly of globus pallidus	83636	C19orf12	OMIM:614298
HP:0002454	Eye of the tiger anomaly of globus pallidus	80025	PANK2	ORPHA:216866
HP:0002454	Eye of the tiger anomaly of globus pallidus	80025	PANK2	OMIM:234200
HP:0002454	Eye of the tiger anomaly of globus pallidus	79152	FA2H	ORPHA:171629
HP:0002454	Eye of the tiger anomaly of globus pallidus	2495	FTH1	OMIM:620669
HP:0002454	Eye of the tiger anomaly of globus pallidus	318	NUDT2	OMIM:619844
HP:0002454	Eye of the tiger anomaly of globus pallidus	8398	PLA2G6	ORPHA:35069
HP:0002454	Eye of the tiger anomaly of globus pallidus	1737	DLAT	ORPHA:79244
HP:0008994	Proximal muscle weakness in lower limbs	291	SLC25A4	ORPHA:254892
HP:0008994	Proximal muscle weakness in lower limbs	5428	POLG	ORPHA:254892
HP:0008994	Proximal muscle weakness in lower limbs	56652	TWNK	ORPHA:254892
HP:0008994	Proximal muscle weakness in lower limbs	11232	POLG2	ORPHA:254892
HP:0008994	Proximal muscle weakness in lower limbs	50484	RRM2B	ORPHA:254892
HP:0008994	Proximal muscle weakness in lower limbs	1410	CRYAB	OMIM:608810
HP:0008994	Proximal muscle weakness in lower limbs	5255	PHKA1	OMIM:300559
HP:0008994	Proximal muscle weakness in lower limbs	7138	TNNT1	OMIM:620389
HP:0008994	Proximal muscle weakness in lower limbs	1756	DMD	ORPHA:206546
HP:0008994	Proximal muscle weakness in lower limbs	3339	HSPG2	OMIM:255800
HP:0008994	Proximal muscle weakness in lower limbs	9927	MFN2	ORPHA:99947
HP:0008994	Proximal muscle weakness in lower limbs	1303	COL12A1	ORPHA:610
HP:0008994	Proximal muscle weakness in lower limbs	1291	COL6A1	ORPHA:610
HP:0008994	Proximal muscle weakness in lower limbs	1292	COL6A2	ORPHA:610
HP:0008994	Proximal muscle weakness in lower limbs	1293	COL6A3	ORPHA:610
HP:0008994	Proximal muscle weakness in lower limbs	10020	GNE	ORPHA:602
HP:0008994	Proximal muscle weakness in lower limbs	23312	DMXL2	ORPHA:453533
HP:0008994	Proximal muscle weakness in lower limbs	1778	DYNC1H1	OMIM:158600
HP:0008994	Proximal muscle weakness in lower limbs	7415	VCP	ORPHA:435387
HP:0008994	Proximal muscle weakness in lower limbs	7415	VCP	OMIM:616687
HP:0008994	Proximal muscle weakness in lower limbs	7415	VCP	OMIM:613954
HP:0008994	Proximal muscle weakness in lower limbs	3991	LIPE	ORPHA:435660
HP:0008994	Proximal muscle weakness in lower limbs	2318	FLNC	ORPHA:63273
HP:0008994	Proximal muscle weakness in lower limbs	2318	FLNC	ORPHA:171445
HP:0008994	Proximal muscle weakness in lower limbs	400916	CHCHD10	OMIM:616209
HP:0008994	Proximal muscle weakness in lower limbs	400916	CHCHD10	ORPHA:457050
HP:0008994	Proximal muscle weakness in lower limbs	400916	CHCHD10	ORPHA:276435
HP:0008994	Proximal muscle weakness in lower limbs	540	ATP7B	ORPHA:905
HP:0008994	Proximal muscle weakness in lower limbs	203547	VMA21	OMIM:310440
HP:0008994	Proximal muscle weakness in lower limbs	274	BIN1	ORPHA:169189
HP:0008994	Proximal muscle weakness in lower limbs	64419	MTMR14	ORPHA:169189
HP:0008994	Proximal muscle weakness in lower limbs	4618	MYF6	ORPHA:169189
HP:0008994	Proximal muscle weakness in lower limbs	1785	DNM2	ORPHA:169189
HP:0008994	Proximal muscle weakness in lower limbs	6261	RYR1	ORPHA:169189
HP:0008994	Proximal muscle weakness in lower limbs	4625	MYH7	ORPHA:59135
HP:0008994	Proximal muscle weakness in lower limbs	3181	HNRNPA2B1	OMIM:620460
HP:0008994	Proximal muscle weakness in lower limbs	4000	LMNA	OMIM:181350
HP:0008994	Proximal muscle weakness in lower limbs	4000	LMNA	ORPHA:98855
HP:0008994	Proximal muscle weakness in lower limbs	4000	LMNA	ORPHA:98856
HP:0008994	Proximal muscle weakness in lower limbs	4000	LMNA	ORPHA:98853
HP:0008994	Proximal muscle weakness in lower limbs	8291	DYSF	ORPHA:268
HP:0008994	Proximal muscle weakness in lower limbs	8291	DYSF	ORPHA:45448
HP:0008994	Proximal muscle weakness in lower limbs	23556	PIGN	ORPHA:280633
HP:0008994	Proximal muscle weakness in lower limbs	3074	HEXB	ORPHA:309169
HP:0008994	Proximal muscle weakness in lower limbs	3714	JAG2	OMIM:619566
HP:0008994	Proximal muscle weakness in lower limbs	6652	SORD	OMIM:618912
HP:0008994	Proximal muscle weakness in lower limbs	79048	SECISBP2	ORPHA:171706
HP:0008994	Proximal muscle weakness in lower limbs	22880	MORC2	ORPHA:466768
HP:0008994	Proximal muscle weakness in lower limbs	10073	SNUPN	OMIM:620793
HP:0008994	Proximal muscle weakness in lower limbs	22954	TRIM32	ORPHA:1878
HP:0008994	Proximal muscle weakness in lower limbs	729920	CRPPA	ORPHA:352479
HP:0008994	Proximal muscle weakness in lower limbs	6329	SCN4A	OMIM:620351
HP:0008994	Proximal muscle weakness in lower limbs	54332	GDAP1	OMIM:607706
HP:0008994	Proximal muscle weakness in lower limbs	54332	GDAP1	ORPHA:101097
HP:0008994	Proximal muscle weakness in lower limbs	23299	BICD2	OMIM:615290
HP:0008994	Proximal muscle weakness in lower limbs	65055	REEP1	ORPHA:101011
HP:0008994	Proximal muscle weakness in lower limbs	56983	POGLUT1	OMIM:617232
HP:0008994	Proximal muscle weakness in lower limbs	64208	POPDC3	OMIM:618848
HP:0008994	Proximal muscle weakness in lower limbs	64856	VWA1	OMIM:619216
HP:0008994	Proximal muscle weakness in lower limbs	311	ANXA11	OMIM:619733
HP:0008994	Proximal muscle weakness in lower limbs	80208	SPG11	OMIM:616668
HP:0008994	Proximal muscle weakness in lower limbs	7273	TTN	ORPHA:609
HP:0008994	Proximal muscle weakness in lower limbs	10229	COQ7	OMIM:620402
HP:0008994	Proximal muscle weakness in lower limbs	122622	ADSS1	ORPHA:482601
HP:0008994	Proximal muscle weakness in lower limbs	81846	SBF2	ORPHA:99956
HP:0008994	Proximal muscle weakness in lower limbs	6606	SMN1	OMIM:253300
HP:0008994	Proximal muscle weakness in lower limbs	2273	FHL1	ORPHA:98863
HP:0008994	Proximal muscle weakness in lower limbs	2010	EMD	ORPHA:98863
HP:0008994	Proximal muscle weakness in lower limbs	4151	MB	OMIM:620286
HP:0008994	Proximal muscle weakness in lower limbs	23676	SMPX	OMIM:301075
HP:0008994	Proximal muscle weakness in lower limbs	8557	TCAP	OMIM:601954
HP:0008994	Proximal muscle weakness in lower limbs	3178	HNRNPA1	OMIM:615424
HP:0008994	Proximal muscle weakness in lower limbs	6709	SPTAN1	OMIM:620538
HP:0008994	Proximal muscle weakness in lower limbs	3908	LAMA2	OMIM:618138
HP:0008994	Proximal muscle weakness in lower limbs	1371	CPOX	ORPHA:79273
HP:0008994	Proximal muscle weakness in lower limbs	90523	MLIP	OMIM:620138
HP:0008994	Proximal muscle weakness in lower limbs	3145	HMBS	ORPHA:79276
HP:0008994	Proximal muscle weakness in lower limbs	4747	NEFL	ORPHA:101085
HP:0008994	Proximal muscle weakness in lower limbs	3156	HMGCR	OMIM:620375
HP:0008994	Proximal muscle weakness in lower limbs	79188	TMEM43	ORPHA:98853
HP:0008994	Proximal muscle weakness in lower limbs	23345	SYNE1	ORPHA:98853
HP:0008994	Proximal muscle weakness in lower limbs	23224	SYNE2	ORPHA:98853
HP:0008994	Proximal muscle weakness in lower limbs	203859	ANO5	ORPHA:206549
HP:0000708	Atypical behavior	1497	CTNS	OMIM:219800
HP:0000708	Atypical behavior	1497	CTNS	OMIM:219750
HP:0000708	Atypical behavior	1497	CTNS	ORPHA:411629
HP:0000708	Atypical behavior	1497	CTNS	OMIM:219900
HP:0000708	Atypical behavior	1497	CTNS	ORPHA:411641
HP:0000708	Atypical behavior	1497	CTNS	ORPHA:411634
HP:0000708	Atypical behavior	778	CACNA1F	OMIM:300476
HP:0000708	Atypical behavior	778	CACNA1F	ORPHA:1872
HP:0000708	Atypical behavior	1161	ERCC8	ORPHA:90324
HP:0000708	Atypical behavior	1161	ERCC8	ORPHA:90321
HP:0000708	Atypical behavior	1161	ERCC8	ORPHA:90322
HP:0000708	Atypical behavior	2074	ERCC6	ORPHA:90324
HP:0000708	Atypical behavior	2074	ERCC6	ORPHA:90321
HP:0000708	Atypical behavior	2074	ERCC6	ORPHA:90322
HP:0000708	Atypical behavior	7299	TYR	OMIM:203100
HP:0000708	Atypical behavior	7299	TYR	OMIM:606952
HP:0000708	Atypical behavior	7299	TYR	ORPHA:79431
HP:0000708	Atypical behavior	7299	TYR	ORPHA:79434
HP:0000708	Atypical behavior	4166	CHST6	ORPHA:98969
HP:0000708	Atypical behavior	4166	CHST6	OMIM:217800
HP:0000708	Atypical behavior	2780	GNAT2	OMIM:613856
HP:0000708	Atypical behavior	2780	GNAT2	ORPHA:1871
HP:0000708	Atypical behavior	2780	GNAT2	ORPHA:49382
HP:0000708	Atypical behavior	197	AHSG	ORPHA:2850
HP:0000708	Atypical behavior	3694	ITGB6	ORPHA:2850
HP:0000708	Atypical behavior	5111	PCNA	OMIM:615919
HP:0000708	Atypical behavior	5111	PCNA	ORPHA:438134
HP:0000708	Atypical behavior	7045	TGFBI	ORPHA:98962
HP:0000708	Atypical behavior	7045	TGFBI	ORPHA:98964
HP:0000708	Atypical behavior	7045	TGFBI	ORPHA:98960
HP:0000708	Atypical behavior	7045	TGFBI	OMIM:608470
HP:0000708	Atypical behavior	7045	TGFBI	OMIM:602082
HP:0000708	Atypical behavior	2072	ERCC4	ORPHA:90321
HP:0000708	Atypical behavior	2072	ERCC4	ORPHA:910
HP:0000708	Atypical behavior	2067	ERCC1	ORPHA:90322
HP:0000708	Atypical behavior	6720	SREBF1	OMIM:158310
HP:0000708	Atypical behavior	6720	SREBF1	OMIM:619016
HP:0000708	Atypical behavior	54714	CNGB3	OMIM:262300
HP:0000708	Atypical behavior	54714	CNGB3	ORPHA:1871
HP:0000708	Atypical behavior	54714	CNGB3	ORPHA:49382
HP:0000708	Atypical behavior	162	AP1B1	OMIM:242150
HP:0000708	Atypical behavior	1638	DCT	OMIM:619165
HP:0000708	Atypical behavior	26504	CNNM4	ORPHA:1873
HP:0000708	Atypical behavior	26504	CNNM4	OMIM:217080
HP:0000708	Atypical behavior	8842	PROM1	ORPHA:1872
HP:0000708	Atypical behavior	8842	PROM1	ORPHA:791
HP:0000708	Atypical behavior	22926	ATF6	ORPHA:1872
HP:0000708	Atypical behavior	22926	ATF6	ORPHA:49382
HP:0000708	Atypical behavior	22926	ATF6	OMIM:616517
HP:0000708	Atypical behavior	84839	RAX2	ORPHA:1872
HP:0000708	Atypical behavior	84839	RAX2	OMIM:610381
HP:0000708	Atypical behavior	24	ABCA4	ORPHA:1872
HP:0000708	Atypical behavior	24	ABCA4	ORPHA:791
HP:0000708	Atypical behavior	1261	CNGA3	ORPHA:1872
HP:0000708	Atypical behavior	1261	CNGA3	ORPHA:49382
HP:0000708	Atypical behavior	1261	CNGA3	OMIM:216900
HP:0000708	Atypical behavior	92211	CDHR1	ORPHA:1872
HP:0000708	Atypical behavior	92211	CDHR1	OMIM:613660
HP:0000708	Atypical behavior	92211	CDHR1	ORPHA:791
HP:0000708	Atypical behavior	5956	OPN1LW	ORPHA:1872
HP:0000708	Atypical behavior	5956	OPN1LW	OMIM:303700
HP:0000708	Atypical behavior	5956	OPN1LW	ORPHA:16
HP:0000708	Atypical behavior	5961	PRPH2	ORPHA:1872
HP:0000708	Atypical behavior	5961	PRPH2	ORPHA:52427
HP:0000708	Atypical behavior	5961	PRPH2	ORPHA:791
HP:0000708	Atypical behavior	5961	PRPH2	OMIM:613105
HP:0000708	Atypical behavior	5961	PRPH2	OMIM:169150
HP:0000708	Atypical behavior	5961	PRPH2	OMIM:608161
HP:0000708	Atypical behavior	8754	ADAM9	ORPHA:1872
HP:0000708	Atypical behavior	22999	RIMS1	ORPHA:1872
HP:0000708	Atypical behavior	128338	DRAM2	ORPHA:1872
HP:0000708	Atypical behavior	128338	DRAM2	OMIM:616502
HP:0000708	Atypical behavior	6103	RPGR	ORPHA:1872
HP:0000708	Atypical behavior	6103	RPGR	OMIM:304020
HP:0000708	Atypical behavior	6103	RPGR	ORPHA:49382
HP:0000708	Atypical behavior	6103	RPGR	ORPHA:791
HP:0000708	Atypical behavior	6103	RPGR	OMIM:300029
HP:0000708	Atypical behavior	2652	OPN1MW	ORPHA:1872
HP:0000708	Atypical behavior	2652	OPN1MW	OMIM:303700
HP:0000708	Atypical behavior	2652	OPN1MW	ORPHA:16
HP:0000708	Atypical behavior	9094	UNC119	ORPHA:1872
HP:0000708	Atypical behavior	9094	UNC119	OMIM:620342
HP:0000708	Atypical behavior	93589	CACNA2D4	ORPHA:1872
HP:0000708	Atypical behavior	93589	CACNA2D4	OMIM:610478
HP:0000708	Atypical behavior	2978	GUCA1A	ORPHA:1872
HP:0000708	Atypical behavior	2978	GUCA1A	ORPHA:1871
HP:0000708	Atypical behavior	2978	GUCA1A	OMIM:602093
HP:0000708	Atypical behavior	282809	POC1B	ORPHA:1872
HP:0000708	Atypical behavior	83394	PITPNM3	ORPHA:1872
HP:0000708	Atypical behavior	83394	PITPNM3	OMIM:600977
HP:0000708	Atypical behavior	23093	TTLL5	ORPHA:1872
HP:0000708	Atypical behavior	83723	TLCD3B	ORPHA:1872
HP:0000708	Atypical behavior	83723	TLCD3B	OMIM:619531
HP:0000708	Atypical behavior	9364	RAB28	ORPHA:1872
HP:0000708	Atypical behavior	5146	PDE6C	ORPHA:1871
HP:0000708	Atypical behavior	5146	PDE6C	OMIM:613093
HP:0000708	Atypical behavior	5146	PDE6C	ORPHA:49382
HP:0000708	Atypical behavior	224	ALDH3A2	ORPHA:816
HP:0000708	Atypical behavior	224	ALDH3A2	OMIM:270200
HP:0000708	Atypical behavior	56623	INPP5E	ORPHA:75858
HP:0000708	Atypical behavior	169522	KCNV2	OMIM:610356
HP:0000708	Atypical behavior	4070	TACSTD2	ORPHA:98957
HP:0000708	Atypical behavior	4070	TACSTD2	OMIM:204870
HP:0000708	Atypical behavior	200576	PIKFYVE	OMIM:121850
HP:0000708	Atypical behavior	63915	BLOC1S5	OMIM:619172
HP:0000708	Atypical behavior	3105	HLA-A	ORPHA:179
HP:0000708	Atypical behavior	105371045	PERCC1	ORPHA:92050
HP:0000708	Atypical behavior	51360	MBTPS2	ORPHA:2273
HP:0000708	Atypical behavior	51360	MBTPS2	OMIM:308800
HP:0000708	Atypical behavior	51360	MBTPS2	OMIM:308205
HP:0000708	Atypical behavior	283652	SLC24A5	OMIM:113750
HP:0000708	Atypical behavior	283652	SLC24A5	ORPHA:370097
HP:0000708	Atypical behavior	79797	ZNF408	OMIM:616469
HP:0000708	Atypical behavior	79797	ZNF408	ORPHA:791
HP:0000708	Atypical behavior	64834	ELOVL1	OMIM:618527
HP:0000708	Atypical behavior	3850	KRT3	OMIM:618767
HP:0000708	Atypical behavior	80326	WNT10A	OMIM:257980
HP:0000708	Atypical behavior	80326	WNT10A	OMIM:150400
HP:0000708	Atypical behavior	8546	AP3B1	OMIM:608233
HP:0000708	Atypical behavior	1130	LYST	ORPHA:167
HP:0000708	Atypical behavior	1130	LYST	OMIM:214500
HP:0000708	Atypical behavior	1420	CRYGC	OMIM:604307
HP:0000708	Atypical behavior	1282	COL4A1	OMIM:180000
HP:0000708	Atypical behavior	4053	LTBP2	OMIM:613086
HP:0000708	Atypical behavior	4053	LTBP2	ORPHA:98976
HP:0000708	Atypical behavior	5333	PLCD1	ORPHA:2387
HP:0000708	Atypical behavior	1474	CST6	OMIM:618535
HP:0000708	Atypical behavior	7855	FZD5	OMIM:620731
HP:0000708	Atypical behavior	3981	LIG4	ORPHA:235
HP:0000708	Atypical behavior	10804	GJB6	ORPHA:477
HP:0000708	Atypical behavior	10804	GJB6	OMIM:129500
HP:0000708	Atypical behavior	5149	PDE6H	OMIM:610024
HP:0000708	Atypical behavior	5149	PDE6H	ORPHA:49382
HP:0000708	Atypical behavior	1909	EDNRA	OMIM:157300
HP:0000708	Atypical behavior	2099	ESR1	OMIM:157300
HP:0000708	Atypical behavior	7124	TNF	OMIM:157300
HP:0000708	Atypical behavior	6017	RLBP1	ORPHA:52427
HP:0000708	Atypical behavior	6017	RLBP1	ORPHA:791
HP:0000708	Atypical behavior	6010	RHO	ORPHA:52427
HP:0000708	Atypical behavior	6010	RHO	ORPHA:791
HP:0000708	Atypical behavior	5959	RDH5	ORPHA:52427
HP:0000708	Atypical behavior	3098	HK1	OMIM:617460
HP:0000708	Atypical behavior	79803	HPS6	OMIM:614075
HP:0000708	Atypical behavior	3859	KRT12	OMIM:122100
HP:0000708	Atypical behavior	326	AIRE	ORPHA:3453
HP:0000708	Atypical behavior	10002	NR2E3	OMIM:611131
HP:0000708	Atypical behavior	10002	NR2E3	ORPHA:791
HP:0000708	Atypical behavior	11152	WDR45	OMIM:615179
HP:0000708	Atypical behavior	83938	LRMDA	OMIM:615179
HP:0000708	Atypical behavior	84168	ANTXR1	OMIM:230740
HP:0000708	Atypical behavior	1634	DCN	OMIM:610048
HP:0000708	Atypical behavior	2303	FOXC2	ORPHA:33001
HP:0000708	Atypical behavior	2303	FOXC2	OMIM:153400
HP:0000708	Atypical behavior	64127	NOD2	ORPHA:90340
HP:0000708	Atypical behavior	5429	POLH	ORPHA:90342
HP:0000708	Atypical behavior	5429	POLH	OMIM:278750
HP:0000708	Atypical behavior	6314	ATXN7	ORPHA:94147
HP:0000708	Atypical behavior	8943	AP3D1	ORPHA:54
HP:0000708	Atypical behavior	8943	AP3D1	ORPHA:1000
HP:0000708	Atypical behavior	4935	GPR143	ORPHA:54
HP:0000708	Atypical behavior	4935	GPR143	OMIM:300500
HP:0000708	Atypical behavior	8481	OFD1	OMIM:300424
HP:0000708	Atypical behavior	8481	OFD1	ORPHA:791
HP:0000708	Atypical behavior	26191	PTPN22	ORPHA:3437
HP:0000708	Atypical behavior	58495	OVOL2	OMIM:122000
HP:0000708	Atypical behavior	58495	OVOL2	ORPHA:98973
HP:0000708	Atypical behavior	2697	GJA1	ORPHA:1010
HP:0000708	Atypical behavior	1545	CYP1B1	ORPHA:98976
HP:0000708	Atypical behavior	4653	MYOC	ORPHA:98976
HP:0000708	Atypical behavior	7010	TEK	ORPHA:98976
HP:0000708	Atypical behavior	4157	MC1R	ORPHA:79432
HP:0000708	Atypical behavior	6935	ZEB1	ORPHA:98973
HP:0000708	Atypical behavior	30813	VSX1	ORPHA:98973
HP:0000708	Atypical behavior	79977	GRHL2	ORPHA:98973
HP:0000708	Atypical behavior	1296	COL8A2	ORPHA:98973
HP:0000708	Atypical behavior	7507	XPA	ORPHA:910
HP:0000708	Atypical behavior	7508	XPC	ORPHA:910
HP:0000708	Atypical behavior	7508	XPC	OMIM:278720
HP:0000708	Atypical behavior	1643	DDB2	ORPHA:910
HP:0000708	Atypical behavior	1643	DDB2	OMIM:278740
HP:0000708	Atypical behavior	2073	ERCC5	ORPHA:910
HP:0000708	Atypical behavior	51151	SLC45A2	ORPHA:79435
HP:0000708	Atypical behavior	92840	REEP6	ORPHA:791
HP:0000708	Atypical behavior	6094	ROM1	ORPHA:791
HP:0000708	Atypical behavior	130557	ZNF513	ORPHA:791
HP:0000708	Atypical behavior	23568	ARL2BP	ORPHA:791
HP:0000708	Atypical behavior	54806	AHI1	ORPHA:791
HP:0000708	Atypical behavior	6101	RP1	ORPHA:791
HP:0000708	Atypical behavior	3419	IDH3A	ORPHA:791
HP:0000708	Atypical behavior	4751	NEK2	ORPHA:791
HP:0000708	Atypical behavior	346007	EYS	ORPHA:791
HP:0000708	Atypical behavior	346007	EYS	OMIM:602772
HP:0000708	Atypical behavior	8100	IFT88	ORPHA:791
HP:0000708	Atypical behavior	23020	SNRNP200	ORPHA:791
HP:0000708	Atypical behavior	762	CA4	ORPHA:791
HP:0000708	Atypical behavior	138050	HGSNAT	ORPHA:791
HP:0000708	Atypical behavior	196	AHR	ORPHA:791
HP:0000708	Atypical behavior	5148	PDE6G	ORPHA:791
HP:0000708	Atypical behavior	26121	PRPF31	ORPHA:791
HP:0000708	Atypical behavior	4117	MAK	ORPHA:791
HP:0000708	Atypical behavior	25794	FSCN2	ORPHA:791
HP:0000708	Atypical behavior	375298	CERKL	ORPHA:791
HP:0000708	Atypical behavior	3420	IDH3B	ORPHA:791
HP:0000708	Atypical behavior	57670	KIAA1549	ORPHA:791
HP:0000708	Atypical behavior	7275	TUB	ORPHA:791
HP:0000708	Atypical behavior	24148	PRPF6	ORPHA:791
HP:0000708	Atypical behavior	10461	MERTK	ORPHA:791
HP:0000708	Atypical behavior	57709	SLC7A14	ORPHA:791
HP:0000708	Atypical behavior	768206	PRCD	ORPHA:791
HP:0000708	Atypical behavior	23370	ARHGEF18	ORPHA:791
HP:0000708	Atypical behavior	5949	RBP3	ORPHA:791
HP:0000708	Atypical behavior	6100	RP9	ORPHA:791
HP:0000708	Atypical behavior	84140	FAM161A	ORPHA:791
HP:0000708	Atypical behavior	55624	POMGNT1	ORPHA:791
HP:0000708	Atypical behavior	403	ARL3	ORPHA:791
HP:0000708	Atypical behavior	5145	PDE6A	ORPHA:791
HP:0000708	Atypical behavior	10210	TOPORS	ORPHA:791
HP:0000708	Atypical behavior	9128	PRPF4	ORPHA:791
HP:0000708	Atypical behavior	50939	IMPG2	ORPHA:791
HP:0000708	Atypical behavior	2979	GUCA1B	ORPHA:791
HP:0000708	Atypical behavior	1259	CNGA1	ORPHA:791
HP:0000708	Atypical behavior	1258	CNGB1	ORPHA:791
HP:0000708	Atypical behavior	60509	AGBL5	ORPHA:791
HP:0000708	Atypical behavior	388939	PCARE	ORPHA:791
HP:0000708	Atypical behavior	7439	BEST1	ORPHA:791
HP:0000708	Atypical behavior	9785	DHX38	ORPHA:791
HP:0000708	Atypical behavior	5995	RGR	ORPHA:791
HP:0000708	Atypical behavior	9129	PRPF3	ORPHA:791
HP:0000708	Atypical behavior	55975	KLHL7	ORPHA:791
HP:0000708	Atypical behavior	3617	IMPG1	ORPHA:791
HP:0000708	Atypical behavior	94137	RP1L1	ORPHA:791
HP:0000708	Atypical behavior	5158	PDE6B	ORPHA:791
HP:0000708	Atypical behavior	6102	RP2	ORPHA:791
HP:0000708	Atypical behavior	55857	KIZ	ORPHA:791
HP:0000708	Atypical behavior	4901	NRL	ORPHA:791
HP:0000708	Atypical behavior	10594	PRPF8	ORPHA:791
HP:0000708	Atypical behavior	6295	SAG	ORPHA:791
HP:0000708	Atypical behavior	8787	RGS9	OMIM:608415
HP:0000708	Atypical behavior	8787	RGS9	ORPHA:75374
HP:0000708	Atypical behavior	114902	C1QTNF5	ORPHA:67042
HP:0000708	Atypical behavior	83552	MFRP	OMIM:611040
HP:0000708	Atypical behavior	22861	NLRP1	OMIM:617388
HP:0000708	Atypical behavior	2784	GNB3	OMIM:617024
HP:0000708	Atypical behavior	84816	RTN4IP1	OMIM:616732
HP:0000708	Atypical behavior	11190	CEP250	OMIM:618358
HP:0000708	Atypical behavior	611	OPN1SW	ORPHA:88629
HP:0000708	Atypical behavior	10320	IKZF1	ORPHA:36426
HP:0000708	Atypical behavior	6768	ST14	OMIM:602400
HP:0000708	Atypical behavior	9445	ITM2B	OMIM:616079
HP:0000708	Atypical behavior	6785	ELOVL4	OMIM:614457
HP:0000708	Atypical behavior	2202	EFEMP1	ORPHA:75376
HP:0000708	Atypical behavior	3075	CFH	ORPHA:75376
HP:0000708	Atypical behavior	3426	CFI	ORPHA:75376
HP:0000708	Atypical behavior	388531	RGS9BP	ORPHA:75374
HP:0000708	Atypical behavior	388531	RGS9BP	OMIM:620344
HP:0000708	Atypical behavior	5080	PAX6	ORPHA:250923
HP:0000708	Atypical behavior	2296	FOXC1	ORPHA:250923
HP:0000708	Atypical behavior	54765	TRIM44	ORPHA:250923
HP:0000708	Atypical behavior	114548	NLRP3	OMIM:148200
HP:0000708	Atypical behavior	3257	HPS1	OMIM:203300
HP:0000708	Atypical behavior	1308	COL17A1	ORPHA:293381
HP:0000708	Atypical behavior	1308	COL17A1	OMIM:122400
HP:0000708	Atypical behavior	27349	MCAT	OMIM:620583
HP:0000708	Atypical behavior	22943	DKK1	ORPHA:268882
HP:0000708	Atypical behavior	2990	GUSB	OMIM:253220
HP:0000708	Atypical behavior	8139	GAN	OMIM:256850
HP:0000708	Atypical behavior	3030	HADHA	ORPHA:5
HP:0000708	Atypical behavior	23155	CLCC1	OMIM:609913
HP:0000708	Atypical behavior	3852	KRT5	ORPHA:79396
HP:0000708	Atypical behavior	3861	KRT14	ORPHA:79396
HP:0000708	Atypical behavior	1374	CPT1A	ORPHA:156
HP:0000708	Atypical behavior	7528	YY1	ORPHA:506358
HP:0000708	Atypical behavior	7528	YY1	ORPHA:97279
HP:0000708	Atypical behavior	875	CBS	ORPHA:394
HP:0000708	Atypical behavior	875	CBS	OMIM:236200
HP:0000708	Atypical behavior	4524	MTHFR	ORPHA:395
HP:0000708	Atypical behavior	4524	MTHFR	OMIM:236250
HP:0000708	Atypical behavior	11253	MAN1B1	ORPHA:397941
HP:0000708	Atypical behavior	1183	CLCN4	OMIM:300114
HP:0000708	Atypical behavior	1183	CLCN4	ORPHA:485350
HP:0000708	Atypical behavior	50651	SLC45A1	OMIM:617532
HP:0000708	Atypical behavior	8518	ELP1	ORPHA:1764
HP:0000708	Atypical behavior	4860	PNP	OMIM:613179
HP:0000708	Atypical behavior	4860	PNP	ORPHA:760
HP:0000708	Atypical behavior	2904	GRIN2B	OMIM:613970
HP:0000708	Atypical behavior	1788	DNMT3A	ORPHA:404443
HP:0000708	Atypical behavior	2521	FUS	ORPHA:275872
HP:0000708	Atypical behavior	2521	FUS	ORPHA:300605
HP:0000708	Atypical behavior	2521	FUS	ORPHA:803
HP:0000708	Atypical behavior	8878	SQSTM1	ORPHA:275872
HP:0000708	Atypical behavior	8878	SQSTM1	ORPHA:803
HP:0000708	Atypical behavior	8878	SQSTM1	ORPHA:275864
HP:0000708	Atypical behavior	7415	VCP	ORPHA:275872
HP:0000708	Atypical behavior	7415	VCP	ORPHA:803
HP:0000708	Atypical behavior	7415	VCP	ORPHA:100070
HP:0000708	Atypical behavior	7415	VCP	ORPHA:435387
HP:0000708	Atypical behavior	7415	VCP	ORPHA:275864
HP:0000708	Atypical behavior	23435	TARDBP	ORPHA:275872
HP:0000708	Atypical behavior	23435	TARDBP	ORPHA:803
HP:0000708	Atypical behavior	29110	TBK1	ORPHA:275872
HP:0000708	Atypical behavior	29110	TBK1	ORPHA:803
HP:0000708	Atypical behavior	400916	CHCHD10	ORPHA:275872
HP:0000708	Atypical behavior	400916	CHCHD10	ORPHA:803
HP:0000708	Atypical behavior	51816	ADA2	ORPHA:820
HP:0000708	Atypical behavior	5428	POLG	ORPHA:94125
HP:0000708	Atypical behavior	64324	NSD1	ORPHA:821
HP:0000708	Atypical behavior	64324	NSD1	ORPHA:228415
HP:0000708	Atypical behavior	10297	APC2	ORPHA:821
HP:0000708	Atypical behavior	4487	MSX1	ORPHA:199302
HP:0000708	Atypical behavior	5818	NECTIN1	ORPHA:199302
HP:0000708	Atypical behavior	8626	TP63	ORPHA:199302
HP:0000708	Atypical behavior	3664	IRF6	ORPHA:199302
HP:0000708	Atypical behavior	4072	EPCAM	ORPHA:144
HP:0000708	Atypical behavior	4292	MLH1	ORPHA:144
HP:0000708	Atypical behavior	5395	PMS2	ORPHA:144
HP:0000708	Atypical behavior	7048	TGFBR2	ORPHA:144
HP:0000708	Atypical behavior	3845	KRAS	ORPHA:144
HP:0000708	Atypical behavior	3845	KRAS	ORPHA:2396
HP:0000708	Atypical behavior	5290	PIK3CA	ORPHA:144
HP:0000708	Atypical behavior	2956	MSH6	ORPHA:144
HP:0000708	Atypical behavior	5378	PMS1	ORPHA:144
HP:0000708	Atypical behavior	4436	MSH2	ORPHA:144
HP:0000708	Atypical behavior	4125	MAN2B1	ORPHA:309282
HP:0000708	Atypical behavior	4125	MAN2B1	ORPHA:309288
HP:0000708	Atypical behavior	2593	GAMT	ORPHA:382
HP:0000708	Atypical behavior	10743	RAI1	ORPHA:477817
HP:0000708	Atypical behavior	10743	RAI1	OMIM:182290
HP:0000708	Atypical behavior	3119	HLA-DQB1	ORPHA:83465
HP:0000708	Atypical behavior	3060	HCRT	ORPHA:83465
HP:0000708	Atypical behavior	22891	ZNF365	ORPHA:83465
HP:0000708	Atypical behavior	3123	HLA-DRB1	ORPHA:83465
HP:0000708	Atypical behavior	1644	DDC	ORPHA:35708
HP:0000708	Atypical behavior	57582	KCNT1	OMIM:615005
HP:0000708	Atypical behavior	57582	KCNT1	ORPHA:98784
HP:0000708	Atypical behavior	64218	SEMA4A	ORPHA:440437
HP:0000708	Atypical behavior	472	ATM	ORPHA:440437
HP:0000708	Atypical behavior	5426	POLE	ORPHA:440437
HP:0000708	Atypical behavior	675	BRCA2	ORPHA:440437
HP:0000708	Atypical behavior	657	BMPR1A	ORPHA:440437
HP:0000708	Atypical behavior	6224	RPS20	ORPHA:440437
HP:0000708	Atypical behavior	4595	MUTYH	ORPHA:440437
HP:0000708	Atypical behavior	5424	POLD1	ORPHA:440437
HP:0000708	Atypical behavior	11200	CHEK2	ORPHA:440437
HP:0000708	Atypical behavior	4010	LMX1B	ORPHA:495818
HP:0000708	Atypical behavior	6812	STXBP1	ORPHA:495818
HP:0000708	Atypical behavior	4552	MTRR	ORPHA:2169
HP:0000708	Atypical behavior	1135	CHRNA2	OMIM:610353
HP:0000708	Atypical behavior	1135	CHRNA2	ORPHA:98784
HP:0000708	Atypical behavior	100996717	NOTCH2NLC	ORPHA:2289
HP:0000708	Atypical behavior	100996717	NOTCH2NLC	OMIM:603472
HP:0000708	Atypical behavior	134218	DNAJC21	ORPHA:811
HP:0000708	Atypical behavior	79631	EFL1	ORPHA:811
HP:0000708	Atypical behavior	51119	SBDS	ORPHA:811
HP:0000708	Atypical behavior	56992	KIF15	ORPHA:261323
HP:0000708	Atypical behavior	1738	DLD	ORPHA:2394
HP:0000708	Atypical behavior	3064	HTT	ORPHA:248111
HP:0000708	Atypical behavior	284058	KANSL1	ORPHA:363958
HP:0000708	Atypical behavior	284058	KANSL1	ORPHA:363965
HP:0000708	Atypical behavior	215	ABCD1	ORPHA:139399
HP:0000708	Atypical behavior	215	ABCD1	ORPHA:139396
HP:0000708	Atypical behavior	215	ABCD1	OMIM:300100
HP:0000708	Atypical behavior	6844	VAMP2	OMIM:618760
HP:0000708	Atypical behavior	3423	IDS	ORPHA:217085
HP:0000708	Atypical behavior	3423	IDS	ORPHA:217093
HP:0000708	Atypical behavior	3034	HAL	ORPHA:2157
HP:0000708	Atypical behavior	2260	FGFR1	ORPHA:2396
HP:0000708	Atypical behavior	2260	FGFR1	ORPHA:93924
HP:0000708	Atypical behavior	2260	FGFR1	ORPHA:220386
HP:0000708	Atypical behavior	3973	LHCGR	ORPHA:3000
HP:0000708	Atypical behavior	8398	PLA2G6	ORPHA:35069
HP:0000708	Atypical behavior	546	ATRX	ORPHA:847
HP:0000708	Atypical behavior	546	ATRX	ORPHA:96253
HP:0000708	Atypical behavior	8131	NPRL3	ORPHA:98820
HP:0000708	Atypical behavior	10641	NPRL2	ORPHA:98820
HP:0000708	Atypical behavior	9681	DEPDC5	ORPHA:98820
HP:0000708	Atypical behavior	9681	DEPDC5	ORPHA:101046
HP:0000708	Atypical behavior	9681	DEPDC5	ORPHA:98784
HP:0000708	Atypical behavior	2626	GATA4	ORPHA:251071
HP:0000708	Atypical behavior	1678	TIMM8A	OMIM:304700
HP:0000708	Atypical behavior	1678	TIMM8A	ORPHA:52368
HP:0000708	Atypical behavior	23096	IQSEC2	ORPHA:397933
HP:0000708	Atypical behavior	7466	WFS1	OMIM:222300
HP:0000708	Atypical behavior	7466	WFS1	ORPHA:3463
HP:0000708	Atypical behavior	773	CACNA1A	ORPHA:97
HP:0000708	Atypical behavior	773	CACNA1A	ORPHA:2382
HP:0000708	Atypical behavior	773	CACNA1A	ORPHA:442835
HP:0000708	Atypical behavior	773	CACNA1A	ORPHA:2131
HP:0000708	Atypical behavior	26278	SACS	ORPHA:98
HP:0000708	Atypical behavior	54476	RNF216	ORPHA:1173
HP:0000708	Atypical behavior	10908	PNPLA6	ORPHA:1173
HP:0000708	Atypical behavior	1759	DNM1	ORPHA:2382
HP:0000708	Atypical behavior	1759	DNM1	ORPHA:442835
HP:0000708	Atypical behavior	2562	GABRB3	ORPHA:2382
HP:0000708	Atypical behavior	5602	MAPK10	ORPHA:2382
HP:0000708	Atypical behavior	6323	SCN1A	ORPHA:2382
HP:0000708	Atypical behavior	6323	SCN1A	ORPHA:442835
HP:0000708	Atypical behavior	23316	CUX2	ORPHA:2382
HP:0000708	Atypical behavior	1106	CHD2	ORPHA:2382
HP:0000708	Atypical behavior	4297	KMT2A	ORPHA:319182
HP:0000708	Atypical behavior	2903	GRIN2A	ORPHA:289266
HP:0000708	Atypical behavior	2903	GRIN2A	ORPHA:98818
HP:0000708	Atypical behavior	80208	SPG11	ORPHA:2822
HP:0000708	Atypical behavior	80208	SPG11	ORPHA:300605
HP:0000708	Atypical behavior	1641	DCX	ORPHA:2148
HP:0000708	Atypical behavior	23230	VPS13A	ORPHA:2388
HP:0000708	Atypical behavior	28514	DLL1	ORPHA:93926
HP:0000708	Atypical behavior	28514	DLL1	ORPHA:93924
HP:0000708	Atypical behavior	28514	DLL1	ORPHA:93925
HP:0000708	Atypical behavior	28514	DLL1	ORPHA:220386
HP:0000708	Atypical behavior	2253	FGF8	ORPHA:93926
HP:0000708	Atypical behavior	2253	FGF8	ORPHA:93924
HP:0000708	Atypical behavior	2253	FGF8	ORPHA:93925
HP:0000708	Atypical behavior	2253	FGF8	ORPHA:220386
HP:0000708	Atypical behavior	6496	SIX3	ORPHA:93926
HP:0000708	Atypical behavior	6496	SIX3	ORPHA:93924
HP:0000708	Atypical behavior	6496	SIX3	ORPHA:93925
HP:0000708	Atypical behavior	6496	SIX3	ORPHA:220386
HP:0000708	Atypical behavior	7050	TGIF1	ORPHA:93926
HP:0000708	Atypical behavior	7050	TGIF1	ORPHA:93924
HP:0000708	Atypical behavior	7050	TGIF1	ORPHA:93925
HP:0000708	Atypical behavior	7050	TGIF1	ORPHA:220386
HP:0000708	Atypical behavior	4838	NODAL	ORPHA:93926
HP:0000708	Atypical behavior	4838	NODAL	ORPHA:93924
HP:0000708	Atypical behavior	4838	NODAL	ORPHA:93925
HP:0000708	Atypical behavior	4838	NODAL	ORPHA:220386
HP:0000708	Atypical behavior	6469	SHH	ORPHA:93926
HP:0000708	Atypical behavior	6469	SHH	ORPHA:93924
HP:0000708	Atypical behavior	6469	SHH	ORPHA:93925
HP:0000708	Atypical behavior	6469	SHH	ORPHA:220386
HP:0000708	Atypical behavior	7546	ZIC2	ORPHA:93926
HP:0000708	Atypical behavior	7546	ZIC2	ORPHA:93924
HP:0000708	Atypical behavior	7546	ZIC2	ORPHA:93925
HP:0000708	Atypical behavior	7546	ZIC2	ORPHA:220386
HP:0000708	Atypical behavior	6491	STIL	ORPHA:93926
HP:0000708	Atypical behavior	6491	STIL	ORPHA:93924
HP:0000708	Atypical behavior	6491	STIL	ORPHA:93925
HP:0000708	Atypical behavior	6491	STIL	ORPHA:220386
HP:0000708	Atypical behavior	2619	GAS1	ORPHA:93926
HP:0000708	Atypical behavior	2619	GAS1	ORPHA:93924
HP:0000708	Atypical behavior	2619	GAS1	ORPHA:93925
HP:0000708	Atypical behavior	2619	GAS1	ORPHA:220386
HP:0000708	Atypical behavior	84976	DISP1	ORPHA:93926
HP:0000708	Atypical behavior	84976	DISP1	ORPHA:93924
HP:0000708	Atypical behavior	84976	DISP1	ORPHA:93925
HP:0000708	Atypical behavior	84976	DISP1	ORPHA:220386
HP:0000708	Atypical behavior	2736	GLI2	ORPHA:93926
HP:0000708	Atypical behavior	2736	GLI2	ORPHA:93924
HP:0000708	Atypical behavior	2736	GLI2	ORPHA:93925
HP:0000708	Atypical behavior	2736	GLI2	ORPHA:220386
HP:0000708	Atypical behavior	8928	FOXH1	ORPHA:93926
HP:0000708	Atypical behavior	8928	FOXH1	ORPHA:93924
HP:0000708	Atypical behavior	8928	FOXH1	ORPHA:93925
HP:0000708	Atypical behavior	8928	FOXH1	ORPHA:220386
HP:0000708	Atypical behavior	6997	CRIPTO	ORPHA:93926
HP:0000708	Atypical behavior	6997	CRIPTO	ORPHA:93924
HP:0000708	Atypical behavior	6997	CRIPTO	ORPHA:93925
HP:0000708	Atypical behavior	6997	CRIPTO	ORPHA:220386
HP:0000708	Atypical behavior	5727	PTCH1	ORPHA:93926
HP:0000708	Atypical behavior	5727	PTCH1	ORPHA:93924
HP:0000708	Atypical behavior	5727	PTCH1	ORPHA:93925
HP:0000708	Atypical behavior	5727	PTCH1	ORPHA:220386
HP:0000708	Atypical behavior	50937	CDON	ORPHA:93926
HP:0000708	Atypical behavior	50937	CDON	ORPHA:93924
HP:0000708	Atypical behavior	50937	CDON	ORPHA:93925
HP:0000708	Atypical behavior	50937	CDON	ORPHA:220386
HP:0000708	Atypical behavior	23007	PLCH1	ORPHA:93925
HP:0000708	Atypical behavior	10735	STAG2	ORPHA:93925
HP:0000708	Atypical behavior	10735	STAG2	ORPHA:220386
HP:0000708	Atypical behavior	3737	KCNA2	ORPHA:442835
HP:0000708	Atypical behavior	8120	AP3B2	ORPHA:442835
HP:0000708	Atypical behavior	523	ATP6V1A	ORPHA:442835
HP:0000708	Atypical behavior	10991	SLC38A3	ORPHA:442835
HP:0000708	Atypical behavior	10991	SLC38A3	OMIM:619881
HP:0000708	Atypical behavior	51343	FZR1	ORPHA:442835
HP:0000708	Atypical behavior	3747	KCNC2	ORPHA:442835
HP:0000708	Atypical behavior	1917	EEF1A2	ORPHA:442835
HP:0000708	Atypical behavior	23219	FBXO28	ORPHA:442835
HP:0000708	Atypical behavior	2561	GABRB2	ORPHA:442835
HP:0000708	Atypical behavior	8831	SYNGAP1	ORPHA:442835
HP:0000708	Atypical behavior	8831	SYNGAP1	ORPHA:544254
HP:0000708	Atypical behavior	2558	GABRA5	ORPHA:442835
HP:0000708	Atypical behavior	2906	GRIN2D	ORPHA:442835
HP:0000708	Atypical behavior	116150	NUS1	ORPHA:442835
HP:0000708	Atypical behavior	1213	CLTC	ORPHA:442835
HP:0000708	Atypical behavior	51741	WWOX	ORPHA:442835
HP:0000708	Atypical behavior	23334	SZT2	ORPHA:442835
HP:0000708	Atypical behavior	348980	HCN1	ORPHA:442835
HP:0000708	Atypical behavior	25977	NECAP1	ORPHA:442835
HP:0000708	Atypical behavior	23241	PACS2	ORPHA:442835
HP:0000708	Atypical behavior	16	AARS1	ORPHA:442835
HP:0000708	Atypical behavior	6334	SCN8A	ORPHA:442835
HP:0000708	Atypical behavior	9568	GABBR2	ORPHA:442835
HP:0000708	Atypical behavior	2555	GABRA2	ORPHA:442835
HP:0000708	Atypical behavior	55152	DALRD3	ORPHA:442835
HP:0000708	Atypical behavior	26999	CYFIP2	ORPHA:442835
HP:0000708	Atypical behavior	4915	NTRK2	ORPHA:442835
HP:0000708	Atypical behavior	25973	PARS2	ORPHA:442835
HP:0000708	Atypical behavior	23097	CDK19	ORPHA:442835
HP:0000708	Atypical behavior	2257	FGF12	ORPHA:442835
HP:0000708	Atypical behavior	5530	PPP3CA	ORPHA:442835
HP:0000708	Atypical behavior	478	ATP1A3	ORPHA:442835
HP:0000708	Atypical behavior	478	ATP1A3	ORPHA:2131
HP:0000708	Atypical behavior	22906	TRAK1	ORPHA:442835
HP:0000708	Atypical behavior	2566	GABRG2	ORPHA:442835
HP:0000708	Atypical behavior	7532	YWHAG	ORPHA:442835
HP:0000708	Atypical behavior	79876	UBA5	ORPHA:442835
HP:0000708	Atypical behavior	6328	SCN3A	ORPHA:442835
HP:0000708	Atypical behavior	781	CACNA2D1	ORPHA:442835
HP:0000708	Atypical behavior	10659	CELF2	ORPHA:442835
HP:0000708	Atypical behavior	774	CACNA1B	ORPHA:442835
HP:0000708	Atypical behavior	51412	ACTL6B	ORPHA:442835
HP:0000708	Atypical behavior	2290	FOXG1	ORPHA:442835
HP:0000708	Atypical behavior	6506	SLC1A2	ORPHA:442835
HP:0000708	Atypical behavior	8867	SYNJ1	ORPHA:442835
HP:0000708	Atypical behavior	477	ATP1A2	ORPHA:442835
HP:0000708	Atypical behavior	477	ATP1A2	ORPHA:2131
HP:0000708	Atypical behavior	3745	KCNB1	ORPHA:442835
HP:0000708	Atypical behavior	284111	SLC13A5	ORPHA:442835
HP:0000708	Atypical behavior	22866	CNKSR2	ORPHA:442835
HP:0000708	Atypical behavior	79947	DHDDS	ORPHA:442835
HP:0000708	Atypical behavior	175	AGA	ORPHA:93
HP:0000708	Atypical behavior	4929	NR4A2	ORPHA:1617
HP:0000708	Atypical behavior	10716	TBR1	ORPHA:1617
HP:0000708	Atypical behavior	57338	JPH3	ORPHA:98934
HP:0000708	Atypical behavior	4854	NOTCH3	OMIM:125310
HP:0000708	Atypical behavior	383	ARG1	ORPHA:90
HP:0000708	Atypical behavior	7915	ALDH5A1	OMIM:271980
HP:0000708	Atypical behavior	7915	ALDH5A1	ORPHA:22
HP:0000708	Atypical behavior	1499	CTNNB1	ORPHA:54595
HP:0000708	Atypical behavior	1499	CTNNB1	ORPHA:404473
HP:0000708	Atypical behavior	673	BRAF	ORPHA:54595
HP:0000708	Atypical behavior	673	BRAF	ORPHA:96253
HP:0000708	Atypical behavior	673	BRAF	ORPHA:626
HP:0000708	Atypical behavior	5654	HTRA1	ORPHA:199354
HP:0000708	Atypical behavior	339453	TMEM240	ORPHA:98773
HP:0000708	Atypical behavior	92482	BBIP1	ORPHA:110
HP:0000708	Atypical behavior	80184	CEP290	ORPHA:110
HP:0000708	Atypical behavior	80184	CEP290	ORPHA:2318
HP:0000708	Atypical behavior	11020	IFT27	ORPHA:110
HP:0000708	Atypical behavior	582	BBS1	ORPHA:110
HP:0000708	Atypical behavior	49855	SCAPER	ORPHA:110
HP:0000708	Atypical behavior	4867	NPHP1	ORPHA:110
HP:0000708	Atypical behavior	51057	WDPCP	ORPHA:110
HP:0000708	Atypical behavior	132320	SCLT1	ORPHA:110
HP:0000708	Atypical behavior	27241	BBS9	ORPHA:110
HP:0000708	Atypical behavior	84984	CEP19	ORPHA:110
HP:0000708	Atypical behavior	22954	TRIM32	ORPHA:110
HP:0000708	Atypical behavior	54903	MKS1	ORPHA:110
HP:0000708	Atypical behavior	79738	BBS10	ORPHA:110
HP:0000708	Atypical behavior	123016	TTC8	ORPHA:110
HP:0000708	Atypical behavior	26160	IFT172	ORPHA:110
HP:0000708	Atypical behavior	583	BBS2	ORPHA:110
HP:0000708	Atypical behavior	585	BBS4	ORPHA:110
HP:0000708	Atypical behavior	8195	MKKS	ORPHA:110
HP:0000708	Atypical behavior	54585	LZTFL1	ORPHA:110
HP:0000708	Atypical behavior	55212	BBS7	ORPHA:110
HP:0000708	Atypical behavior	166379	BBS12	ORPHA:110
HP:0000708	Atypical behavior	10806	SDCCAG8	ORPHA:110
HP:0000708	Atypical behavior	157657	CFAP418	ORPHA:110
HP:0000708	Atypical behavior	84100	ARL6	ORPHA:110
HP:0000708	Atypical behavior	129880	BBS5	ORPHA:110
HP:0000708	Atypical behavior	80173	IFT74	ORPHA:110
HP:0000708	Atypical behavior	51114	ZDHHC9	OMIM:300799
HP:0000708	Atypical behavior	51114	ZDHHC9	ORPHA:776
HP:0000708	Atypical behavior	11277	TREX1	OMIM:192315
HP:0000708	Atypical behavior	11277	TREX1	ORPHA:247691
HP:0000708	Atypical behavior	1593	CYP27A1	ORPHA:909
HP:0000708	Atypical behavior	6507	SLC1A3	ORPHA:2131
HP:0000708	Atypical behavior	5590	PRKCZ	ORPHA:1606
HP:0000708	Atypical behavior	2563	GABRD	ORPHA:1606
HP:0000708	Atypical behavior	23013	SPEN	ORPHA:1606
HP:0000708	Atypical behavior	8510	MMP23B	ORPHA:1606
HP:0000708	Atypical behavior	7798	LUZP1	ORPHA:1606
HP:0000708	Atypical behavior	6497	SKI	ORPHA:1606
HP:0000708	Atypical behavior	10630	PDPN	ORPHA:1606
HP:0000708	Atypical behavior	3339	HSPG2	ORPHA:1606
HP:0000708	Atypical behavior	10277	UBE4B	ORPHA:1606
HP:0000708	Atypical behavior	8514	KCNAB2	ORPHA:1606
HP:0000708	Atypical behavior	473	RERE	ORPHA:1606
HP:0000708	Atypical behavior	473	RERE	ORPHA:494344
HP:0000708	Atypical behavior	63976	PRDM16	ORPHA:1606
HP:0000708	Atypical behavior	54897	CASZ1	ORPHA:1606
HP:0000708	Atypical behavior	493856	CISD2	ORPHA:3463
HP:0000708	Atypical behavior	4035	LRP1	ORPHA:79100
HP:0000708	Atypical behavior	8659	ALDH4A1	ORPHA:79101
HP:0000708	Atypical behavior	1859	DYRK1A	ORPHA:464311
HP:0000708	Atypical behavior	5521	PPP2R2B	ORPHA:98762
HP:0000708	Atypical behavior	10280	SIGMAR1	ORPHA:300605
HP:0000708	Atypical behavior	10558	SPTLC1	ORPHA:300605
HP:0000708	Atypical behavior	57679	ALS2	ORPHA:300605
HP:0000708	Atypical behavior	79813	EHMT1	ORPHA:261652
HP:0000708	Atypical behavior	79813	EHMT1	ORPHA:96147
HP:0000708	Atypical behavior	58508	KMT2C	ORPHA:261652
HP:0000708	Atypical behavior	5621	PRNP	ORPHA:157941
HP:0000708	Atypical behavior	5621	PRNP	ORPHA:280397
HP:0000708	Atypical behavior	27086	FOXP1	ORPHA:391372
HP:0000708	Atypical behavior	2324	FLT4	ORPHA:79452
HP:0000708	Atypical behavior	9780	PIEZO1	ORPHA:79452
HP:0000708	Atypical behavior	285	ANGPT2	ORPHA:79452
HP:0000708	Atypical behavior	57165	GJC2	ORPHA:79452
HP:0000708	Atypical behavior	6908	TBP	ORPHA:98759
HP:0000708	Atypical behavior	2006	ELN	OMIM:194050
HP:0000708	Atypical behavior	51085	MLXIPL	OMIM:194050
HP:0000708	Atypical behavior	57192	MCOLN1	ORPHA:578
HP:0000708	Atypical behavior	6638	SNRPN	ORPHA:98754
HP:0000708	Atypical behavior	6638	SNRPN	ORPHA:177904
HP:0000708	Atypical behavior	6638	SNRPN	ORPHA:177901
HP:0000708	Atypical behavior	6638	SNRPN	ORPHA:177910
HP:0000708	Atypical behavior	6638	SNRPN	ORPHA:177907
HP:0000708	Atypical behavior	6638	SNRPN	ORPHA:411515
HP:0000708	Atypical behavior	4692	NDN	ORPHA:98754
HP:0000708	Atypical behavior	4692	NDN	ORPHA:177904
HP:0000708	Atypical behavior	4692	NDN	ORPHA:177901
HP:0000708	Atypical behavior	4692	NDN	ORPHA:177910
HP:0000708	Atypical behavior	54551	MAGEL2	ORPHA:98754
HP:0000708	Atypical behavior	54551	MAGEL2	OMIM:176270
HP:0000708	Atypical behavior	54551	MAGEL2	ORPHA:177904
HP:0000708	Atypical behavior	54551	MAGEL2	ORPHA:177901
HP:0000708	Atypical behavior	54551	MAGEL2	ORPHA:398069
HP:0000708	Atypical behavior	54551	MAGEL2	ORPHA:177910
HP:0000708	Atypical behavior	4948	OCA2	ORPHA:98754
HP:0000708	Atypical behavior	4948	OCA2	ORPHA:177904
HP:0000708	Atypical behavior	4948	OCA2	ORPHA:177901
HP:0000708	Atypical behavior	23314	SATB2	ORPHA:576283
HP:0000708	Atypical behavior	23314	SATB2	ORPHA:251028
HP:0000708	Atypical behavior	57609	DIP2B	OMIM:136630
HP:0000708	Atypical behavior	51322	WAC	ORPHA:284169
HP:0000708	Atypical behavior	51322	WAC	OMIM:616708
HP:0000708	Atypical behavior	51322	WAC	ORPHA:466950
HP:0000708	Atypical behavior	427	ASAH1	ORPHA:2590
HP:0000708	Atypical behavior	427	ASAH1	ORPHA:333
HP:0000708	Atypical behavior	1436	CSF1R	OMIM:221820
HP:0000708	Atypical behavior	55739	NAXD	OMIM:618321
HP:0000708	Atypical behavior	339855	KY	OMIM:617114
HP:0000708	Atypical behavior	162417	NAGS	ORPHA:927
HP:0000708	Atypical behavior	2146	EZH2	OMIM:277590
HP:0000708	Atypical behavior	3458	IFNG	ORPHA:805
HP:0000708	Atypical behavior	7248	TSC1	ORPHA:805
HP:0000708	Atypical behavior	7249	TSC2	ORPHA:805
HP:0000708	Atypical behavior	2055	CLN8	ORPHA:1947
HP:0000708	Atypical behavior	25978	CHMP2B	ORPHA:803
HP:0000708	Atypical behavior	25978	CHMP2B	ORPHA:100070
HP:0000708	Atypical behavior	25978	CHMP2B	ORPHA:275864
HP:0000708	Atypical behavior	3178	HNRNPA1	ORPHA:803
HP:0000708	Atypical behavior	8148	TAF15	ORPHA:803
HP:0000708	Atypical behavior	5445	PON2	ORPHA:803
HP:0000708	Atypical behavior	9217	VAPB	ORPHA:803
HP:0000708	Atypical behavior	5630	PRPH	ORPHA:803
HP:0000708	Atypical behavior	55830	GLT8D1	ORPHA:803
HP:0000708	Atypical behavior	755	CFAP410	ORPHA:803
HP:0000708	Atypical behavior	10891	PPARGC1A	ORPHA:803
HP:0000708	Atypical behavior	6647	SOD1	ORPHA:803
HP:0000708	Atypical behavior	10133	OPTN	ORPHA:803
HP:0000708	Atypical behavior	1639	DCTN1	ORPHA:803
HP:0000708	Atypical behavior	9896	FIG4	ORPHA:803
HP:0000708	Atypical behavior	9896	FIG4	ORPHA:208441
HP:0000708	Atypical behavior	5444	PON1	ORPHA:803
HP:0000708	Atypical behavior	5446	PON3	ORPHA:803
HP:0000708	Atypical behavior	4744	NEFH	ORPHA:803
HP:0000708	Atypical behavior	5216	PFN1	ORPHA:803
HP:0000708	Atypical behavior	9782	MATR3	ORPHA:803
HP:0000708	Atypical behavior	54209	TREM2	ORPHA:803
HP:0000708	Atypical behavior	54209	TREM2	ORPHA:100070
HP:0000708	Atypical behavior	54209	TREM2	ORPHA:2770
HP:0000708	Atypical behavior	54209	TREM2	ORPHA:275864
HP:0000708	Atypical behavior	283	ANG	ORPHA:803
HP:0000708	Atypical behavior	29978	UBQLN2	ORPHA:803
HP:0000708	Atypical behavior	2733	GLE1	ORPHA:803
HP:0000708	Atypical behavior	4750	NEK1	ORPHA:803
HP:0000708	Atypical behavior	6311	ATXN2	ORPHA:803
HP:0000708	Atypical behavior	1610	DAO	ORPHA:803
HP:0000708	Atypical behavior	2066	ERBB4	ORPHA:803
HP:0000708	Atypical behavior	311	ANXA11	ORPHA:803
HP:0000708	Atypical behavior	23025	UNC13A	ORPHA:803
HP:0000708	Atypical behavior	899	CCNF	ORPHA:803
HP:0000708	Atypical behavior	899	CCNF	OMIM:619141
HP:0000708	Atypical behavior	2776	GNAQ	ORPHA:3205
HP:0000708	Atypical behavior	197322	ACSF3	ORPHA:289504
HP:0000708	Atypical behavior	5649	RELN	ORPHA:101046
HP:0000708	Atypical behavior	9211	LGI1	ORPHA:101046
HP:0000708	Atypical behavior	25970	SH2B1	ORPHA:261197
HP:0000708	Atypical behavior	23503	ZFYVE26	ORPHA:100996
HP:0000708	Atypical behavior	2703	GJA8	OMIM:612474
HP:0000708	Atypical behavior	2702	GJA5	OMIM:612474
HP:0000708	Atypical behavior	2245	FGD1	ORPHA:915
HP:0000708	Atypical behavior	8260	NAA10	ORPHA:276432
HP:0000708	Atypical behavior	4001	LMNB1	ORPHA:99027
HP:0000708	Atypical behavior	8803	SUCLA2	ORPHA:1933
HP:0000708	Atypical behavior	2902	GRIN1	ORPHA:208447
HP:0000708	Atypical behavior	4089	SMAD4	ORPHA:2588
HP:0000708	Atypical behavior	79944	L2HGDH	ORPHA:79314
HP:0000708	Atypical behavior	149233	IL23R	ORPHA:117
HP:0000708	Atypical behavior	6775	STAT4	ORPHA:117
HP:0000708	Atypical behavior	3586	IL10	ORPHA:117
HP:0000708	Atypical behavior	4210	MEFV	ORPHA:117
HP:0000708	Atypical behavior	1230	CCR1	ORPHA:117
HP:0000708	Atypical behavior	355	FAS	ORPHA:117
HP:0000708	Atypical behavior	3592	IL12A	ORPHA:117
HP:0000708	Atypical behavior	101928376	IL12A-AS1	ORPHA:117
HP:0000708	Atypical behavior	3106	HLA-B	ORPHA:117
HP:0000708	Atypical behavior	7099	TLR4	ORPHA:117
HP:0000708	Atypical behavior	3459	IFNGR1	ORPHA:117
HP:0000708	Atypical behavior	720	C4A	ORPHA:117
HP:0000708	Atypical behavior	337867	UBAC2	ORPHA:117
HP:0000708	Atypical behavior	51752	ERAP1	ORPHA:117
HP:0000708	Atypical behavior	8302	KLRC4	ORPHA:117
HP:0000708	Atypical behavior	5663	PSEN1	ORPHA:100070
HP:0000708	Atypical behavior	5663	PSEN1	ORPHA:275864
HP:0000708	Atypical behavior	2896	GRN	ORPHA:100070
HP:0000708	Atypical behavior	2896	GRN	ORPHA:275864
HP:0000708	Atypical behavior	54664	TMEM106B	ORPHA:100070
HP:0000708	Atypical behavior	54664	TMEM106B	ORPHA:275864
HP:0000708	Atypical behavior	4137	MAPT	ORPHA:100070
HP:0000708	Atypical behavior	4137	MAPT	ORPHA:275864
HP:0000708	Atypical behavior	3479	IGF1	ORPHA:73272
HP:0000708	Atypical behavior	57526	PCDH19	ORPHA:101039
HP:0000708	Atypical behavior	351	APP	ORPHA:324723
HP:0000708	Atypical behavior	351	APP	ORPHA:324703
HP:0000708	Atypical behavior	351	APP	ORPHA:324708
HP:0000708	Atypical behavior	351	APP	ORPHA:100006
HP:0000708	Atypical behavior	123606	NIPA1	ORPHA:261183
HP:0000708	Atypical behavior	7283	TUBG1	ORPHA:261183
HP:0000708	Atypical behavior	81614	NIPA2	ORPHA:261183
HP:0000708	Atypical behavior	51621	KLF13	OMIM:612001
HP:0000708	Atypical behavior	1139	CHRNA7	OMIM:612001
HP:0000708	Atypical behavior	9759	HDAC4	ORPHA:1001
HP:0000708	Atypical behavior	2767	GNA11	ORPHA:428
HP:0000708	Atypical behavior	846	CASR	ORPHA:428
HP:0000708	Atypical behavior	253738	EBF3	ORPHA:96148
HP:0000708	Atypical behavior	85358	SHANK3	OMIM:606232
HP:0000708	Atypical behavior	50814	NSDHL	ORPHA:251383
HP:0000708	Atypical behavior	113235	SLC46A1	ORPHA:90045
HP:0000708	Atypical behavior	100033413	SNORD116-1	OMIM:176270
HP:0000708	Atypical behavior	8924	HERC2	OMIM:176270
HP:0000708	Atypical behavior	23742	NPAP1	OMIM:176270
HP:0000708	Atypical behavior	338433	SNORD115-1	OMIM:176270
HP:0000708	Atypical behavior	7681	MKRN3	OMIM:176270
HP:0000708	Atypical behavior	145624	PWAR1	OMIM:176270
HP:0000708	Atypical behavior	3653	IPW	OMIM:176270
HP:0000708	Atypical behavior	791114	PWRN1	OMIM:176270
HP:0000708	Atypical behavior	55869	HDAC8	OMIM:300882
HP:0000708	Atypical behavior	2581	GALC	ORPHA:206443
HP:0000708	Atypical behavior	1387	CREBBP	ORPHA:353281
HP:0000708	Atypical behavior	1387	CREBBP	ORPHA:353277
HP:0000708	Atypical behavior	6096	RORB	OMIM:618357
HP:0000708	Atypical behavior	29998	BICRA	OMIM:619325
HP:0000708	Atypical behavior	84162	BLTP1	OMIM:617822
HP:0000708	Atypical behavior	10157	AASS	ORPHA:2203
HP:0000708	Atypical behavior	2782	GNB1	OMIM:616973
HP:0000708	Atypical behavior	6492	SIM1	ORPHA:398079
HP:0000708	Atypical behavior	4953	ODC1	ORPHA:544488
HP:0000708	Atypical behavior	998	CDC42	OMIM:616737
HP:0000708	Atypical behavior	2033	EP300	ORPHA:353284
HP:0000708	Atypical behavior	7132	TNFRSF1A	ORPHA:32960
HP:0000708	Atypical behavior	5053	PAH	ORPHA:79254
HP:0000708	Atypical behavior	65109	UPF3B	ORPHA:776
HP:0000708	Atypical behavior	9968	MED12	ORPHA:776
HP:0000708	Atypical behavior	5573	PRKAR1A	ORPHA:1359
HP:0000708	Atypical behavior	50940	PDE11A	ORPHA:1359
HP:0000708	Atypical behavior	84196	USP48	ORPHA:96253
HP:0000708	Atypical behavior	7157	TP53	ORPHA:96253
HP:0000708	Atypical behavior	9101	USP8	ORPHA:96253
HP:0000708	Atypical behavior	64072	CDH23	ORPHA:96253
HP:0000708	Atypical behavior	2908	NR3C1	ORPHA:96253
HP:0000708	Atypical behavior	6609	SMPD1	ORPHA:77293
HP:0000708	Atypical behavior	51132	RLIM	OMIM:300978
HP:0000708	Atypical behavior	6597	SMARCA4	ORPHA:1465
HP:0000708	Atypical behavior	6598	SMARCB1	ORPHA:1465
HP:0000708	Atypical behavior	6659	SOX4	ORPHA:1465
HP:0000708	Atypical behavior	8289	ARID1A	ORPHA:1465
HP:0000708	Atypical behavior	5977	DPF2	ORPHA:1465
HP:0000708	Atypical behavior	6601	SMARCC2	ORPHA:1465
HP:0000708	Atypical behavior	6602	SMARCD1	ORPHA:1465
HP:0000708	Atypical behavior	57492	ARID1B	ORPHA:1465
HP:0000708	Atypical behavior	196528	ARID2	ORPHA:1465
HP:0000708	Atypical behavior	6605	SMARCE1	ORPHA:1465
HP:0000708	Atypical behavior	6664	SOX11	ORPHA:1465
HP:0000708	Atypical behavior	1737	DLAT	ORPHA:79244
HP:0000708	Atypical behavior	23389	MED13L	ORPHA:369891
HP:0000708	Atypical behavior	1312	COMT	ORPHA:567
HP:0000708	Atypical behavior	221037	JMJD1C	ORPHA:567
HP:0000708	Atypical behavior	2812	GP1BB	ORPHA:567
HP:0000708	Atypical behavior	6239	RREB1	ORPHA:567
HP:0000708	Atypical behavior	6899	TBX1	ORPHA:567
HP:0000708	Atypical behavior	7290	HIRA	ORPHA:567
HP:0000708	Atypical behavior	9632	SEC24C	ORPHA:567
HP:0000708	Atypical behavior	7353	UFD1	ORPHA:567
HP:0000708	Atypical behavior	421	ARVCF	ORPHA:567
HP:0000708	Atypical behavior	79583	TMEM231	ORPHA:2318
HP:0000708	Atypical behavior	51524	TMEM138	ORPHA:2318
HP:0000708	Atypical behavior	23090	ZNF423	ORPHA:2318
HP:0000708	Atypical behavior	51259	TMEM216	ORPHA:2318
HP:0000708	Atypical behavior	57545	CC2D2A	ORPHA:2318
HP:0000708	Atypical behavior	65062	TMEM237	ORPHA:2318
HP:0000708	Atypical behavior	2717	GLA	ORPHA:324
HP:0000708	Atypical behavior	6898	TAT	ORPHA:28378
HP:0000708	Atypical behavior	2632	GBE1	ORPHA:206583
HP:0000708	Atypical behavior	538	ATP7A	ORPHA:565
HP:0000708	Atypical behavior	1137	CHRNA4	ORPHA:98784
HP:0000708	Atypical behavior	57010	CABP4	ORPHA:98784
HP:0000708	Atypical behavior	1141	CHRNB2	ORPHA:98784
HP:0000708	Atypical behavior	1392	CRH	ORPHA:98784
HP:0000708	Atypical behavior	25942	SIN3A	ORPHA:94065
HP:0000708	Atypical behavior	10943	MSL3	OMIM:301032
HP:0000708	Atypical behavior	191	AHCY	ORPHA:88618
HP:0000708	Atypical behavior	9496	TBX4	ORPHA:261279
HP:0000708	Atypical behavior	2009	EML1	OMIM:600348
HP:0000708	Atypical behavior	5718	PSMD12	ORPHA:529962
HP:0000708	Atypical behavior	2186	BPTF	ORPHA:529962
HP:0000708	Atypical behavior	389856	USP27X	OMIM:300984
HP:0000708	Atypical behavior	7403	KDM6A	OMIM:300867
HP:0000708	Atypical behavior	3181	HNRNPA2B1	OMIM:615422
HP:0000708	Atypical behavior	6304	SATB1	OMIM:619228
HP:0000708	Atypical behavior	57187	THOC2	ORPHA:457240
HP:0000708	Atypical behavior	57187	THOC2	OMIM:300957
HP:0000708	Atypical behavior	26227	PHGDH	ORPHA:79351
HP:0000708	Atypical behavior	5498	PPOX	ORPHA:79473
HP:0000708	Atypical behavior	2239	GPC4	ORPHA:2662
HP:0000708	Atypical behavior	4763	NF1	ORPHA:97685
HP:0000708	Atypical behavior	80185	TTI2	ORPHA:391307
HP:0000708	Atypical behavior	3251	HPRT1	ORPHA:510
HP:0000708	Atypical behavior	2464	FRA16E	OMIM:136570
HP:0000708	Atypical behavior	6197	RPS6KA3	ORPHA:192
HP:0000708	Atypical behavior	10664	CTCF	ORPHA:363611
HP:0000708	Atypical behavior	2892	GRIA3	ORPHA:364028
HP:0000708	Atypical behavior	10847	SRCAP	OMIM:619595
HP:0000708	Atypical behavior	6711	SPTBN1	OMIM:619475
HP:0000708	Atypical behavior	6660	SOX5	ORPHA:626
HP:0000708	Atypical behavior	238	ALK	ORPHA:626
HP:0000708	Atypical behavior	9839	ZEB2	ORPHA:626
HP:0000708	Atypical behavior	4893	NRAS	ORPHA:626
HP:0000708	Atypical behavior	5894	RAF1	ORPHA:626
HP:0000708	Atypical behavior	7305	TYROBP	ORPHA:2770
HP:0000708	Atypical behavior	4221	MEN1	ORPHA:97279
HP:0000708	Atypical behavior	4810	NHS	ORPHA:627
HP:0000708	Atypical behavior	6697	SPR	ORPHA:70594
HP:0000708	Atypical behavior	26047	CNTNAP2	ORPHA:163681
HP:0000708	Atypical behavior	7343	UBTF	ORPHA:500180
HP:0000708	Atypical behavior	7204	TRIO	ORPHA:476126
HP:0000708	Atypical behavior	10939	AFG3L2	ORPHA:101109
HP:0000708	Atypical behavior	3028	HSD17B10	ORPHA:85295
HP:0000708	Atypical behavior	1277	COL1A1	ORPHA:1310
HP:0000708	Atypical behavior	1654	DDX3X	OMIM:300958
HP:0000708	Atypical behavior	4128	MAOA	ORPHA:3057
HP:0000708	Atypical behavior	407975	MIR17HG	ORPHA:391646
HP:0000708	Atypical behavior	55670	PEX26	ORPHA:772
HP:0000708	Atypical behavior	5824	PEX19	ORPHA:772
HP:0000708	Atypical behavior	5828	PEX2	ORPHA:772
HP:0000708	Atypical behavior	8504	PEX3	ORPHA:772
HP:0000708	Atypical behavior	9409	PEX16	ORPHA:772
HP:0000708	Atypical behavior	5190	PEX6	ORPHA:772
HP:0000708	Atypical behavior	8799	PEX11B	ORPHA:772
HP:0000708	Atypical behavior	5830	PEX5	ORPHA:772
HP:0000708	Atypical behavior	5189	PEX1	ORPHA:772
HP:0000708	Atypical behavior	5193	PEX12	ORPHA:772
HP:0000708	Atypical behavior	5194	PEX13	ORPHA:772
HP:0000708	Atypical behavior	5195	PEX14	ORPHA:772
HP:0000708	Atypical behavior	5192	PEX10	ORPHA:772
HP:0000708	Atypical behavior	1540	CYLD	OMIM:619132
HP:0000708	Atypical behavior	8243	SMC1A	ORPHA:220386
HP:0000708	Atypical behavior	5879	RAC1	ORPHA:500159
HP:0000708	Atypical behavior	25974	MMACHC	ORPHA:79282
HP:0000708	Atypical behavior	27249	MMADHC	ORPHA:79283
HP:0000708	Atypical behavior	4693	NDP	ORPHA:649
HP:0000708	Atypical behavior	9203	ZMYM3	OMIM:301111
HP:0000708	Atypical behavior	1806	DPYD	ORPHA:293948
HP:0000708	Atypical behavior	35	ACADS	ORPHA:26792
HP:0000708	Atypical behavior	2036	EPB41L1	OMIM:614257
HP:0000708	Atypical behavior	170302	ARX	OMIM:309510
HP:0000708	Atypical behavior	161742	SPRED1	ORPHA:137605
HP:0000708	Atypical behavior	7337	UBE3A	ORPHA:411515
HP:0000708	Atypical behavior	57194	ATP10A	ORPHA:411515
HP:0000708	Atypical behavior	56978	PRDM8	ORPHA:324290
HP:0000708	Atypical behavior	60481	ELOVL5	ORPHA:423296
HP:0000708	Atypical behavior	54675	CRLS1	OMIM:620167
HP:0000708	Atypical behavior	23111	SPART	OMIM:275900
HP:0000708	Atypical behavior	23111	SPART	ORPHA:101000
HP:0000708	Atypical behavior	8450	CUL4B	OMIM:300354
HP:0000708	Atypical behavior	55630	SLC39A4	ORPHA:37
HP:0000708	Atypical behavior	55630	SLC39A4	OMIM:201100
HP:0000708	Atypical behavior	8722	CTSF	OMIM:615362
HP:0000708	Atypical behavior	23043	TNIK	OMIM:617028
HP:0000708	Atypical behavior	1757	SARDH	ORPHA:3129
HP:0000708	Atypical behavior	340024	SLC6A19	OMIM:234500
HP:0000708	Atypical behavior	340024	SLC6A19	ORPHA:2116
HP:0000708	Atypical behavior	10381	TUBB3	ORPHA:300570
HP:0000708	Atypical behavior	3953	LEPR	OMIM:614963
HP:0000708	Atypical behavior	3953	LEPR	ORPHA:179494
HP:0000708	Atypical behavior	10015	PDCD6IP	OMIM:620047
HP:0000708	Atypical behavior	55149	MTPAP	ORPHA:254343
HP:0000708	Atypical behavior	55149	MTPAP	OMIM:613672
HP:0000708	Atypical behavior	83636	C19orf12	OMIM:614298
HP:0000708	Atypical behavior	6999	TDO2	OMIM:600627
HP:0000708	Atypical behavior	4914	NTRK1	OMIM:256800
HP:0000708	Atypical behavior	9049	AIP	OMIM:219090
HP:0000708	Atypical behavior	2512	FTL	OMIM:606159
HP:0000708	Atypical behavior	2512	FTL	ORPHA:157846
HP:0000708	Atypical behavior	7809	BSND	ORPHA:89938
HP:0000708	Atypical behavior	1188	CLCNKB	ORPHA:89938
HP:0000708	Atypical behavior	1187	CLCNKA	ORPHA:89938
HP:0000708	Atypical behavior	388662	SLC6A17	ORPHA:457212
HP:0000708	Atypical behavior	388662	SLC6A17	OMIM:616269
HP:0000708	Atypical behavior	5566	PRKACA	OMIM:615830
HP:0000708	Atypical behavior	4771	NF2	ORPHA:2495
HP:0000708	Atypical behavior	6608	SMO	ORPHA:2495
HP:0000708	Atypical behavior	207	AKT1	ORPHA:2495
HP:0000708	Atypical behavior	7015	TERT	ORPHA:2495
HP:0000708	Atypical behavior	51684	SUFU	ORPHA:2495
HP:0000708	Atypical behavior	378884	NHLRC1	ORPHA:501
HP:0000708	Atypical behavior	7957	EPM2A	ORPHA:501
HP:0000708	Atypical behavior	26576	SRPK3	OMIM:301134
HP:0000708	Atypical behavior	81887	LAS1L	ORPHA:3459
HP:0000708	Atypical behavior	81887	LAS1L	OMIM:309585
HP:0000708	Atypical behavior	79798	ARMC5	ORPHA:189427
HP:0000708	Atypical behavior	23028	KDM1A	ORPHA:189427
HP:0000708	Atypical behavior	54487	DGCR8	OMIM:192430
HP:0000708	Atypical behavior	8214	DGCR6	OMIM:192430
HP:0000708	Atypical behavior	8220	ESS2	OMIM:192430
HP:0000708	Atypical behavior	9993	DGCR2	OMIM:192430
HP:0000708	Atypical behavior	617	BCS1L	OMIM:124000
HP:0000708	Atypical behavior	80025	PANK2	ORPHA:216873
HP:0000708	Atypical behavior	54941	RNF125	OMIM:616260
HP:0000708	Atypical behavior	5230	PGK1	OMIM:300653
HP:0000708	Atypical behavior	57393	CLTRN	ORPHA:2116
HP:0000708	Atypical behavior	727676	SNORD118	ORPHA:542310
HP:0000708	Atypical behavior	27286	SRPX2	ORPHA:1945
HP:0000708	Atypical behavior	1967	EIF2B1	OMIM:603896
HP:0000708	Atypical behavior	2328	FMO3	ORPHA:468726
HP:0000708	Atypical behavior	2583	B4GALNT1	OMIM:609195
HP:0000708	Atypical behavior	165918	RNF168	ORPHA:420741
HP:0000708	Atypical behavior	55217	TMLHE	OMIM:300872
HP:0000708	Atypical behavior	8367	H4C5	OMIM:619950
HP:0000708	Atypical behavior	51126	NAA20	OMIM:619717
HP:0000708	Atypical behavior	10973	ASCC3	OMIM:620700
HP:0000708	Atypical behavior	90459	ERI1	OMIM:620662
HP:0000708	Atypical behavior	27245	AHDC1	ORPHA:412069
HP:0000708	Atypical behavior	5980	REV3L	ORPHA:570
HP:0000708	Atypical behavior	23129	PLXND1	ORPHA:570
HP:0000708	Atypical behavior	79868	ALG13	ORPHA:324422
HP:0000708	Atypical behavior	201163	FLCN	OMIM:610883
HP:0000708	Atypical behavior	412	STS	ORPHA:281090
HP:0000708	Atypical behavior	412	STS	ORPHA:461
HP:0000708	Atypical behavior	10483	SEC23B	ORPHA:201
HP:0000708	Atypical behavior	6390	SDHB	ORPHA:201
HP:0000708	Atypical behavior	6392	SDHD	ORPHA:201
HP:0000708	Atypical behavior	6391	SDHC	ORPHA:201
HP:0000708	Atypical behavior	205717	USF3	ORPHA:201
HP:0000708	Atypical behavior	100144748	KLLN	ORPHA:201
HP:0000708	Atypical behavior	372	ARCN1	OMIM:617164
HP:0000708	Atypical behavior	5277	PIGA	OMIM:300868
HP:0000708	Atypical behavior	2628	GATM	OMIM:612718
HP:0000708	Atypical behavior	1798	DPAGT1	ORPHA:86309
HP:0000708	Atypical behavior	10841	FTCD	ORPHA:51208
HP:0000708	Atypical behavior	3975	LHX1	ORPHA:261265
HP:0000708	Atypical behavior	6928	HNF1B	ORPHA:261265
HP:0000708	Atypical behavior	139411	PTCHD1	OMIM:300830
HP:0000708	Atypical behavior	23405	DICER1	OMIM:618272
HP:0000708	Atypical behavior	2312	FLG	ORPHA:461
HP:0000708	Atypical behavior	29123	ANKRD11	ORPHA:261250
HP:0000708	Atypical behavior	775	CACNA1C	OMIM:601005
HP:0000708	Atypical behavior	54888	NSUN2	OMIM:611091
HP:0000708	Atypical behavior	4781	NFIB	OMIM:618286
HP:0000708	Atypical behavior	4668	NAGA	ORPHA:79281
HP:0000708	Atypical behavior	4668	NAGA	ORPHA:79279
HP:0000708	Atypical behavior	85440	DOCK7	OMIM:615859
HP:0000708	Atypical behavior	1807	DPYS	OMIM:222748
HP:0000708	Atypical behavior	2742	GLRA2	OMIM:301076
HP:0000708	Atypical behavior	11141	IL1RAPL1	OMIM:300143
HP:0000708	Atypical behavior	8621	CDK13	OMIM:617360
HP:0000708	Atypical behavior	221078	NSUN6	OMIM:620779
HP:0000708	Atypical behavior	5062	PAK2	OMIM:618458
HP:0000708	Atypical behavior	128674	PROKR2	ORPHA:3157
HP:0000708	Atypical behavior	6657	SOX2	ORPHA:3157
HP:0000708	Atypical behavior	6658	SOX3	ORPHA:3157
HP:0000708	Atypical behavior	9915	ARNT2	ORPHA:3157
HP:0000708	Atypical behavior	8820	HESX1	ORPHA:3157
HP:0000708	Atypical behavior	5015	OTX2	ORPHA:3157
HP:0000708	Atypical behavior	283450	HECTD4	OMIM:620250
HP:0000708	Atypical behavior	5138	PDE2A	OMIM:619150
HP:0000708	Atypical behavior	9853	RUSC2	OMIM:617773
HP:0000708	Atypical behavior	2972	BRF1	OMIM:616202
HP:0000708	Atypical behavior	7109	TRAPPC10	OMIM:620027
HP:0000708	Atypical behavior	3703	STT3A	OMIM:619714
HP:0000708	Atypical behavior	79581	SLC52A2	OMIM:614707
HP:0000708	Atypical behavior	10093	ARPC4	OMIM:620141
HP:0000708	Atypical behavior	2731	GLDC	OMIM:605899
HP:0000708	Atypical behavior	5689	PSMB1	OMIM:620038
HP:0000708	Atypical behavior	57082	KNL1	OMIM:604321
HP:0000708	Atypical behavior	284403	WDR62	OMIM:604317
HP:0000708	Atypical behavior	10134	BCAP31	ORPHA:369939
HP:0000708	Atypical behavior	81857	MED25	ORPHA:464738
HP:0000708	Atypical behavior	3612	IMPA1	OMIM:617323
HP:0000708	Atypical behavior	84300	UQCC2	OMIM:615824
HP:0000708	Atypical behavior	4247	MGAT2	OMIM:212066
HP:0000708	Atypical behavior	5063	PAK3	OMIM:300558
HP:0000708	Atypical behavior	57282	SLC4A10	OMIM:620746
HP:0000708	Atypical behavior	92609	TIMM50	OMIM:617698
HP:0000708	Atypical behavior	92609	TIMM50	ORPHA:505216
HP:0000708	Atypical behavior	2259	FGF14	ORPHA:98764
HP:0000708	Atypical behavior	25814	ATXN10	ORPHA:98761
HP:0000708	Atypical behavior	283209	PGM2L1	OMIM:620191
HP:0000708	Atypical behavior	113179	ADAT3	OMIM:615286
HP:0000708	Atypical behavior	113179	ADAT3	ORPHA:363528
HP:0000708	Atypical behavior	23400	ATP13A2	OMIM:617225
HP:0000708	Atypical behavior	23400	ATP13A2	OMIM:606693
HP:0000708	Atypical behavior	9922	IQSEC1	OMIM:618687
HP:0000708	Atypical behavior	10165	SLC25A13	ORPHA:247585
HP:0000708	Atypical behavior	5910	RAP1GDS1	OMIM:620655
HP:0000708	Atypical behavior	54517	PUS7	OMIM:618342
HP:0000708	Atypical behavior	10765	KDM5B	OMIM:618109
HP:0000708	Atypical behavior	83548	COG3	OMIM:620546
HP:0000708	Atypical behavior	114327	EFHC1	ORPHA:307
HP:0000708	Atypical behavior	1181	CLCN2	ORPHA:307
HP:0000708	Atypical behavior	3786	KCNQ3	ORPHA:307
HP:0000708	Atypical behavior	22858	CILK1	ORPHA:307
HP:0000708	Atypical behavior	785	CACNB4	ORPHA:307
HP:0000708	Atypical behavior	23114	NFASC	OMIM:618356
HP:0000708	Atypical behavior	4081	MAB21L1	OMIM:618479
HP:0000708	Atypical behavior	4081	MAB21L1	ORPHA:495875
HP:0000708	Atypical behavior	6301	SARS1	OMIM:617709
HP:0000708	Atypical behavior	5932	RBBP8	OMIM:251255
HP:0000708	Atypical behavior	26224	FBXL3	OMIM:606220
HP:0000708	Atypical behavior	54834	GDAP2	OMIM:618369
HP:0000708	Atypical behavior	29920	PYCR2	ORPHA:481152
HP:0000708	Atypical behavior	20	ABCA2	OMIM:618808
HP:0000708	Atypical behavior	1781	DYNC1I2	OMIM:618492
HP:0000708	Atypical behavior	8802	SUCLG1	ORPHA:17
HP:0000708	Atypical behavior	79576	NKAP	OMIM:301039
HP:0000708	Atypical behavior	5283	PIGH	OMIM:618010
HP:0000708	Atypical behavior	4126	MANBA	OMIM:248510
HP:0000708	Atypical behavior	953	ENTPD1	ORPHA:401810
HP:0000708	Atypical behavior	953	ENTPD1	OMIM:615683
HP:0000708	Atypical behavior	55180	LINS1	OMIM:614340
HP:0000708	Atypical behavior	81562	LMAN2L	OMIM:616887
HP:0000708	Atypical behavior	163786	SASS6	OMIM:616402
HP:0000708	Atypical behavior	131669	UROC1	OMIM:276880
HP:0000708	Atypical behavior	6472	SHMT2	OMIM:619121
HP:0000708	Atypical behavior	51473	DCDC2	ORPHA:84081
HP:0000708	Atypical behavior	91147	TMEM67	ORPHA:84081
HP:0000708	Atypical behavior	2799	GNS	OMIM:252940
HP:0000708	Atypical behavior	55023	PHIP	OMIM:617991
HP:0000708	Atypical behavior	1893	ECM1	OMIM:247100
HP:0000708	Atypical behavior	1968	EIF2S3	OMIM:300148
HP:0000708	Atypical behavior	3832	KIF11	OMIM:152950
HP:0000708	Atypical behavior	341208	HEPHL1	OMIM:261990
HP:0000708	Atypical behavior	4669	NAGLU	OMIM:252920
HP:0000708	Atypical behavior	54413	NLGN3	OMIM:300425
HP:0000708	Atypical behavior	6515	SLC2A3	ORPHA:399
HP:0000708	Atypical behavior	3067	HDC	OMIM:137580
HP:0000708	Atypical behavior	114798	SLITRK1	OMIM:137580
HP:0000708	Atypical behavior	114798	SLITRK1	OMIM:613229
HP:0000708	Atypical behavior	4774	NFIA	ORPHA:401986
HP:0000708	Atypical behavior	613	BCR	ORPHA:261330
HP:0000708	Atypical behavior	1399	CRKL	ORPHA:261330
HP:0000708	Atypical behavior	5594	MAPK1	ORPHA:261330
HP:0000708	Atypical behavior	80347	COASY	OMIM:615643
HP:0000708	Atypical behavior	80347	COASY	ORPHA:397725
HP:0000708	Atypical behavior	7086	TKT	ORPHA:488618
HP:0000708	Atypical behavior	7086	TKT	OMIM:617044
HP:0000708	Atypical behavior	55636	CHD7	ORPHA:138
HP:0000708	Atypical behavior	9723	SEMA3E	ORPHA:138
HP:0000708	Atypical behavior	4952	OCRL	ORPHA:534
HP:0000708	Atypical behavior	23476	BRD4	OMIM:620568
HP:0000708	Atypical behavior	23476	BRD4	ORPHA:199
HP:0000708	Atypical behavior	833	CARS1	OMIM:618891
HP:0000708	Atypical behavior	22995	CEP152	OMIM:614852
HP:0000708	Atypical behavior	9126	SMC3	ORPHA:199
HP:0000708	Atypical behavior	6878	TAF6	ORPHA:199
HP:0000708	Atypical behavior	5885	RAD21	ORPHA:199
HP:0000708	Atypical behavior	2643	GCH1	ORPHA:98808
HP:0000708	Atypical behavior	3615	IMPDH2	ORPHA:98808
HP:0000708	Atypical behavior	54902	TTC19	OMIM:615157
HP:0000708	Atypical behavior	10531	PITRM1	OMIM:619405
HP:0000708	Atypical behavior	111	ADCY5	OMIM:619651
HP:0000708	Atypical behavior	6532	SLC6A4	OMIM:164230
HP:0000708	Atypical behavior	7319	UBE2A	ORPHA:163956
HP:0000708	Atypical behavior	23394	ADNP	ORPHA:404448
HP:0000708	Atypical behavior	23394	ADNP	OMIM:615873
HP:0000708	Atypical behavior	340533	NEXMIF	OMIM:300912
HP:0000708	Atypical behavior	340533	NEXMIF	ORPHA:1942
HP:0000708	Atypical behavior	340533	NEXMIF	ORPHA:85277
HP:0000708	Atypical behavior	2132	EXT2	OMIM:616682
HP:0000708	Atypical behavior	23135	KDM6B	OMIM:618505
HP:0000708	Atypical behavior	1024	CDK8	OMIM:618748
HP:0000708	Atypical behavior	10054	UBA2	OMIM:619959
HP:0000708	Atypical behavior	6228	RPS23	OMIM:617412
HP:0000708	Atypical behavior	6938	TCF12	OMIM:619718
HP:0000708	Atypical behavior	5361	PLXNA1	OMIM:619955
HP:0000708	Atypical behavior	5927	KDM5A	OMIM:620820
HP:0000708	Atypical behavior	55209	SETD5	ORPHA:404440
HP:0000708	Atypical behavior	55209	SETD5	OMIM:615761
HP:0000708	Atypical behavior	3074	HEXB	ORPHA:309162
HP:0000708	Atypical behavior	116931	MED12L	OMIM:618872
HP:0000708	Atypical behavior	387119	CEP85L	OMIM:618873
HP:0000708	Atypical behavior	6729	SRP54	OMIM:618752
HP:0000708	Atypical behavior	9578	CDC42BPB	OMIM:619841
HP:0000708	Atypical behavior	3020	H3-3A	OMIM:619720
HP:0000708	Atypical behavior	80816	ASXL3	OMIM:615485
HP:0000708	Atypical behavior	80816	ASXL3	ORPHA:352577
HP:0000708	Atypical behavior	7552	ZNF711	OMIM:300803
HP:0000708	Atypical behavior	5728	PTEN	ORPHA:210548
HP:0000708	Atypical behavior	220296	HEPACAM	ORPHA:210548
HP:0000708	Atypical behavior	51111	KMT5B	OMIM:617788
HP:0000708	Atypical behavior	8239	USP9X	OMIM:300919
HP:0000708	Atypical behavior	80155	NAA15	OMIM:617787
HP:0000708	Atypical behavior	4149	MAX	OMIM:620712
HP:0000708	Atypical behavior	3781	KCNN2	OMIM:619725
HP:0000708	Atypical behavior	57231	SNX14	ORPHA:397709
HP:0000708	Atypical behavior	57231	SNX14	OMIM:616354
HP:0000708	Atypical behavior	2590	GALNT2	OMIM:618885
HP:0000708	Atypical behavior	55870	ASH1L	OMIM:617796
HP:0000708	Atypical behavior	535	ATP6V0A1	OMIM:619970
HP:0000708	Atypical behavior	9692	PRORP	OMIM:619737
HP:0000708	Atypical behavior	816	CAMK2B	OMIM:617799
HP:0000708	Atypical behavior	2770	GNAI1	OMIM:619854
HP:0000708	Atypical behavior	51319	RSRC1	OMIM:618402
HP:0000708	Atypical behavior	1009	CDH11	OMIM:619736
HP:0000708	Atypical behavior	157680	VPS13B	OMIM:216550
HP:0000708	Atypical behavior	6872	TAF1	ORPHA:480907
HP:0000708	Atypical behavior	6872	TAF1	OMIM:300966
HP:0000708	Atypical behavior	54872	PIGG	ORPHA:488635
HP:0000708	Atypical behavior	57178	ZMIZ1	OMIM:618659
HP:0000708	Atypical behavior	2783	GNB2	OMIM:619503
HP:0000708	Atypical behavior	26057	ANKRD17	OMIM:619504
HP:0000708	Atypical behavior	11193	WBP4	OMIM:620852
HP:0000708	Atypical behavior	26834	RNU4-2	OMIM:620851
HP:0000708	Atypical behavior	8493	PPM1D	OMIM:617450
HP:0000708	Atypical behavior	26038	CHD5	OMIM:619873
HP:0000708	Atypical behavior	54880	BCOR	OMIM:309800
HP:0000708	Atypical behavior	1182	CLCN3	OMIM:619512
HP:0000708	Atypical behavior	1182	CLCN3	OMIM:619517
HP:0000708	Atypical behavior	29081	METTL5	OMIM:618665
HP:0000708	Atypical behavior	84879	MFSD2A	OMIM:616486
HP:0000708	Atypical behavior	23126	POGZ	OMIM:616364
HP:0000708	Atypical behavior	23126	POGZ	ORPHA:468678
HP:0000708	Atypical behavior	55773	TBC1D23	OMIM:617695
HP:0000708	Atypical behavior	51633	OTUD6B	OMIM:617452
HP:0000708	Atypical behavior	51633	OTUD6B	ORPHA:505237
HP:0000708	Atypical behavior	8363	H4C11	OMIM:619759
HP:0000708	Atypical behavior	9354	UBE4A	OMIM:619639
HP:0000708	Atypical behavior	2550	GABBR1	OMIM:620502
HP:0000708	Atypical behavior	93986	FOXP2	ORPHA:251061
HP:0000708	Atypical behavior	93986	FOXP2	ORPHA:209908
HP:0000708	Atypical behavior	8314	BAP1	OMIM:619762
HP:0000708	Atypical behavior	7750	ZMYM2	OMIM:619522
HP:0000708	Atypical behavior	57169	ZNFX1	OMIM:619644
HP:0000708	Atypical behavior	53335	BCL11A	OMIM:617101
HP:0000708	Atypical behavior	1742	DLG4	OMIM:618793
HP:0000708	Atypical behavior	4849	CNOT3	OMIM:618672
HP:0000708	Atypical behavior	6942	TCF20	OMIM:618430
HP:0000708	Atypical behavior	200424	TET3	OMIM:618798
HP:0000708	Atypical behavior	140679	SLC32A1	OMIM:620755
HP:0000708	Atypical behavior	140679	SLC32A1	OMIM:620774
HP:0000708	Atypical behavior	140679	SLC32A1	ORPHA:1934
HP:0000708	Atypical behavior	57466	SCAF4	OMIM:620511
HP:0000708	Atypical behavior	51341	ZBTB7A	OMIM:619769
HP:0000708	Atypical behavior	9338	TCEAL1	OMIM:301094
HP:0000708	Atypical behavior	4208	MEF2C	ORPHA:228384
HP:0000708	Atypical behavior	7030	TFE3	OMIM:301066
HP:0000708	Atypical behavior	23162	MAPK8IP3	OMIM:618443
HP:0000708	Atypical behavior	476	ATP1A1	ORPHA:564178
HP:0000708	Atypical behavior	57479	PRR12	OMIM:619539
HP:0000708	Atypical behavior	7994	KAT6A	OMIM:616268
HP:0000708	Atypical behavior	10516	FBLN5	ORPHA:90348
HP:0000708	Atypical behavior	5832	ALDH18A1	ORPHA:90348
HP:0000708	Atypical behavior	5832	ALDH18A1	OMIM:616603
HP:0000708	Atypical behavior	25836	NIPBL	OMIM:122470
HP:0000708	Atypical behavior	1107	CHD3	OMIM:618205
HP:0000708	Atypical behavior	374969	SVBP	OMIM:618569
HP:0000708	Atypical behavior	1173	AP2M1	ORPHA:1942
HP:0000708	Atypical behavior	1173	AP2M1	OMIM:618587
HP:0000708	Atypical behavior	6529	SLC6A1	ORPHA:1942
HP:0000708	Atypical behavior	6529	SLC6A1	OMIM:616421
HP:0000708	Atypical behavior	10533	ATG7	OMIM:619422
HP:0000708	Atypical behavior	8295	TRRAP	OMIM:618454
HP:0000708	Atypical behavior	9742	IFT140	OMIM:266920
HP:0000708	Atypical behavior	9742	IFT140	ORPHA:65
HP:0000708	Atypical behavior	26173	INTS1	OMIM:618571
HP:0000708	Atypical behavior	27133	KCNH5	OMIM:620537
HP:0000708	Atypical behavior	11338	U2AF2	OMIM:620535
HP:0000708	Atypical behavior	835	CASP2	OMIM:620653
HP:0000708	Atypical behavior	6792	CDKL5	ORPHA:1934
HP:0000708	Atypical behavior	6792	CDKL5	ORPHA:3095
HP:0000708	Atypical behavior	6792	CDKL5	ORPHA:505652
HP:0000708	Atypical behavior	3736	KCNA1	ORPHA:1934
HP:0000708	Atypical behavior	9091	PIGQ	ORPHA:1934
HP:0000708	Atypical behavior	2775	GNAO1	ORPHA:1934
HP:0000708	Atypical behavior	81603	TRIM8	ORPHA:1934
HP:0000708	Atypical behavior	79751	SLC25A22	ORPHA:1934
HP:0000708	Atypical behavior	150094	SIK1	ORPHA:1934
HP:0000708	Atypical behavior	8573	CASK	ORPHA:1934
HP:0000708	Atypical behavior	8573	CASK	ORPHA:163937
HP:0000708	Atypical behavior	23312	DMXL2	ORPHA:1934
HP:0000708	Atypical behavior	2917	GRM7	ORPHA:1934
HP:0000708	Atypical behavior	11284	PNKP	ORPHA:1934
HP:0000708	Atypical behavior	6326	SCN2A	ORPHA:1934
HP:0000708	Atypical behavior	6326	SCN2A	ORPHA:36387
HP:0000708	Atypical behavior	6326	SCN2A	ORPHA:33069
HP:0000708	Atypical behavior	51227	PIGP	ORPHA:1934
HP:0000708	Atypical behavior	6324	SCN1B	ORPHA:1934
HP:0000708	Atypical behavior	6324	SCN1B	ORPHA:36387
HP:0000708	Atypical behavior	6324	SCN1B	ORPHA:33069
HP:0000708	Atypical behavior	4761	NEUROD2	ORPHA:1934
HP:0000708	Atypical behavior	22827	PUF60	ORPHA:508498
HP:0000708	Atypical behavior	22827	PUF60	ORPHA:508488
HP:0000708	Atypical behavior	388015	RTL1	ORPHA:254531
HP:0000708	Atypical behavior	8788	DLK1	ORPHA:254531
HP:0000708	Atypical behavior	55384	MEG3	ORPHA:254531
HP:0000708	Atypical behavior	5898	RALA	OMIM:619311
HP:0000708	Atypical behavior	10466	COG5	ORPHA:263487
HP:0000708	Atypical behavior	6909	TBX2	OMIM:618223
HP:0000708	Atypical behavior	30000	TNPO2	OMIM:619556
HP:0000708	Atypical behavior	56896	DPYSL5	OMIM:619435
HP:0000708	Atypical behavior	160418	TMTC3	OMIM:617255
HP:0000708	Atypical behavior	2355	FOSL2	OMIM:620789
HP:0000708	Atypical behavior	2653	GCSH	OMIM:620423
HP:0000708	Atypical behavior	6650	CAPN15	OMIM:619318
HP:0000708	Atypical behavior	84320	ACBD6	OMIM:620785
HP:0000708	Atypical behavior	6709	SPTAN1	OMIM:620540
HP:0000708	Atypical behavior	4076	CAPRIN1	OMIM:620782
HP:0000708	Atypical behavior	5575	PRKAR1B	OMIM:619680
HP:0000708	Atypical behavior	22854	NTNG1	ORPHA:3095
HP:0000708	Atypical behavior	4204	MECP2	ORPHA:3095
HP:0000708	Atypical behavior	4204	MECP2	OMIM:312750
HP:0000708	Atypical behavior	4204	MECP2	OMIM:300055
HP:0000708	Atypical behavior	4204	MECP2	OMIM:300260
HP:0000708	Atypical behavior	5515	PPP2CA	OMIM:618354
HP:0000708	Atypical behavior	3714	JAG2	OMIM:619566
HP:0000708	Atypical behavior	6651	SON	OMIM:617140
HP:0000708	Atypical behavior	6651	SON	ORPHA:500150
HP:0000708	Atypical behavior	57520	HECW2	OMIM:617268
HP:0000708	Atypical behavior	23030	KDM4B	OMIM:619320
HP:0000708	Atypical behavior	7453	WARS1	OMIM:620317
HP:0000708	Atypical behavior	23524	SRRM2	OMIM:620439
HP:0000708	Atypical behavior	55777	MBD5	OMIM:156200
HP:0000708	Atypical behavior	57551	TAOK1	OMIM:619575
HP:0000708	Atypical behavior	23414	ZFPM2	OMIM:616067
HP:0000708	Atypical behavior	7468	NSD2	OMIM:619695
HP:0000708	Atypical behavior	166378	AFG2A	ORPHA:457351
HP:0000708	Atypical behavior	3376	IARS1	ORPHA:541423
HP:0000708	Atypical behavior	9969	MED13	OMIM:618009
HP:0000708	Atypical behavior	2898	GRIK2	OMIM:619580
HP:0000708	Atypical behavior	7703	PCGF2	OMIM:618371
HP:0000708	Atypical behavior	1760	DMPK	ORPHA:589821
HP:0000708	Atypical behavior	164	AP1G1	OMIM:619467
HP:0000708	Atypical behavior	9758	FRMPD4	OMIM:300983
HP:0000708	Atypical behavior	26040	SETBP1	OMIM:616078
HP:0000708	Atypical behavior	3188	HNRNPH2	OMIM:300986
HP:0000708	Atypical behavior	5144	PDE4D	ORPHA:439822
HP:0000708	Atypical behavior	2475	MTOR	ORPHA:457485
HP:0000708	Atypical behavior	23384	SPECC1L	OMIM:145420
HP:0000708	Atypical behavior	5332	PLCB4	OMIM:620458
HP:0000708	Atypical behavior	91039	DPP9	OMIM:620331
HP:0000708	Atypical behavior	64864	RFX7	OMIM:620330
HP:0000708	Atypical behavior	84065	TMEM222	OMIM:619470
HP:0000708	Atypical behavior	9757	KMT2B	ORPHA:589618
HP:0000708	Atypical behavior	23322	RPGRIP1L	OMIM:619113
HP:0000708	Atypical behavior	8812	CCNK	OMIM:618147
HP:0000708	Atypical behavior	94005	PIGS	OMIM:618143
HP:0000708	Atypical behavior	5702	PSMC3	OMIM:619354
HP:0000708	Atypical behavior	4762	NEUROG1	OMIM:620469
HP:0000708	Atypical behavior	8452	CUL3	OMIM:619239
HP:0000708	Atypical behavior	4983	OPHN1	ORPHA:137831
HP:0000708	Atypical behavior	80036	TRPM3	OMIM:620224
HP:0000708	Atypical behavior	526	ATP6V1B2	ORPHA:79500
HP:0000708	Atypical behavior	57465	TBC1D24	ORPHA:79500
HP:0000708	Atypical behavior	11198	SUPT16H	OMIM:619480
HP:0000708	Atypical behavior	8567	MADD	OMIM:619005
HP:0000708	Atypical behavior	23067	SETD1B	OMIM:619000
HP:0000708	Atypical behavior	23112	TNRC6B	OMIM:619243
HP:0000708	Atypical behavior	91875	TTC5	OMIM:619244
HP:0000708	Atypical behavior	79143	MBOAT7	OMIM:617188
HP:0000708	Atypical behavior	288	ANK3	ORPHA:356996
HP:0000708	Atypical behavior	118924	FRA10AC1	OMIM:620113
HP:0000708	Atypical behavior	5625	PRODH	OMIM:239500
HP:0000708	Atypical behavior	5528	PPP2R5D	ORPHA:457279
HP:0000708	Atypical behavior	84231	TRAF7	OMIM:618164
HP:0000708	Atypical behavior	1984	EIF5A	OMIM:619376
HP:0000708	Atypical behavior	89970	RSPRY1	ORPHA:457395
HP:0000708	Atypical behavior	89970	RSPRY1	OMIM:616723
HP:0000708	Atypical behavior	10295	BCKDK	OMIM:614923
HP:0000708	Atypical behavior	10079	ATP9A	OMIM:620242
HP:0000708	Atypical behavior	11011	TLK2	OMIM:618050
HP:0000708	Atypical behavior	23040	MYT1L	ORPHA:647799
HP:0000708	Atypical behavior	23040	MYT1L	OMIM:616521
HP:0000708	Atypical behavior	27161	AGO2	OMIM:619149
HP:0000708	Atypical behavior	1496	CTNNA2	OMIM:618174
HP:0000708	Atypical behavior	221692	PHACTR1	OMIM:618298
HP:0000708	Atypical behavior	9898	UBAP2L	OMIM:620494
HP:0000708	Atypical behavior	23443	SLC35A3	ORPHA:370943
HP:0000708	Atypical behavior	23443	SLC35A3	OMIM:615553
HP:0000708	Atypical behavior	6095	RORA	OMIM:618060
HP:0000708	Atypical behavior	128	ADH5	OMIM:619151
HP:0000708	Atypical behavior	58499	ZNF462	ORPHA:502430
HP:0000708	Atypical behavior	58499	ZNF462	OMIM:618619
HP:0000708	Atypical behavior	26960	NBEA	OMIM:619157
HP:0000708	Atypical behavior	84282	RNF135	ORPHA:137634
HP:0000708	Atypical behavior	10274	STAG1	ORPHA:502434
HP:0000708	Atypical behavior	10274	STAG1	OMIM:617635
HP:0000708	Atypical behavior	1119	CHKA	OMIM:620023
HP:0000708	Atypical behavior	132158	GLYCTK	ORPHA:941
HP:0000708	Atypical behavior	118987	PDZD8	OMIM:620021
HP:0000708	Atypical behavior	9690	UBE3C	OMIM:620270
HP:0000708	Atypical behavior	80232	WDR26	ORPHA:513456
HP:0000708	Atypical behavior	6535	SLC6A8	ORPHA:52503
HP:0000708	Atypical behavior	6595	SMARCA2	OMIM:619293
HP:0000708	Atypical behavior	84992	PIGY	ORPHA:247262
HP:0000708	Atypical behavior	84720	PIGO	ORPHA:247262
HP:0000708	Atypical behavior	93210	PGAP3	ORPHA:247262
HP:0000708	Atypical behavior	284098	PIGW	ORPHA:247262
HP:0000708	Atypical behavior	27315	PGAP2	ORPHA:247262
HP:0000708	Atypical behavior	55650	PIGV	ORPHA:247262
HP:0000708	Atypical behavior	9487	PIGL	ORPHA:247262
HP:0000708	Atypical behavior	3899	AFF3	OMIM:619297
HP:0000708	Atypical behavior	9739	SETD1A	OMIM:619056
HP:0000708	Atypical behavior	80204	FBXO11	OMIM:618089
HP:0000708	Atypical behavior	23732	FRRS1L	ORPHA:725
HP:0000708	Atypical behavior	114034	TOE1	OMIM:614969
HP:0000708	Atypical behavior	26523	AGO1	OMIM:620292
HP:0000708	Atypical behavior	23116	TOGARAM1	OMIM:619185
HP:0000708	Atypical behavior	64919	BCL11B	OMIM:618092
HP:0000708	Atypical behavior	4212	MEIS2	OMIM:600987
HP:0000708	Atypical behavior	26053	AUTS2	ORPHA:352490
HP:0000708	Atypical behavior	26053	AUTS2	OMIM:615834
HP:0000708	Atypical behavior	23036	ZNF292	OMIM:619188
HP:0000708	Atypical behavior	55154	MSTO1	ORPHA:502423
HP:0000708	Atypical behavior	6335	SCN9A	ORPHA:36387
HP:0000708	Atypical behavior	6335	SCN9A	ORPHA:33069
HP:0000708	Atypical behavior	112755	STX1B	ORPHA:36387
HP:0000708	Atypical behavior	112476	PRRT2	ORPHA:36387
HP:0000708	Atypical behavior	2258	FGF13	ORPHA:36387
HP:0000708	Atypical behavior	2258	FGF13	OMIM:301058
HP:0000708	Atypical behavior	84059	ADGRV1	ORPHA:36387
HP:0000708	Atypical behavior	7840	ALMS1	ORPHA:64
HP:0000708	Atypical behavior	3769	KCNJ13	ORPHA:65
HP:0000708	Atypical behavior	343035	RD3	ORPHA:65
HP:0000708	Atypical behavior	145226	RDH12	ORPHA:65
HP:0000708	Atypical behavior	1406	CRX	ORPHA:65
HP:0000708	Atypical behavior	64802	NMNAT1	ORPHA:65
HP:0000708	Atypical behavior	57096	RPGRIP1	ORPHA:65
HP:0000708	Atypical behavior	10383	TUBB4B	ORPHA:65
HP:0000708	Atypical behavior	85015	USP45	ORPHA:65
HP:0000708	Atypical behavior	6121	RPE65	ORPHA:65
HP:0000708	Atypical behavior	23418	CRB1	ORPHA:65
HP:0000708	Atypical behavior	5130	PCYT1A	ORPHA:65
HP:0000708	Atypical behavior	9657	IQCB1	ORPHA:65
HP:0000708	Atypical behavior	392255	GDF6	ORPHA:65
HP:0000708	Atypical behavior	23746	AIPL1	ORPHA:65
HP:0000708	Atypical behavior	3000	GUCY2D	ORPHA:65
HP:0000708	Atypical behavior	9227	LRAT	ORPHA:65
HP:0000708	Atypical behavior	55812	SPATA7	ORPHA:65
HP:0000708	Atypical behavior	7287	TULP1	ORPHA:65
HP:0000708	Atypical behavior	167691	LCA5	ORPHA:65
HP:0000708	Atypical behavior	3614	IMPDH1	ORPHA:65
HP:0000708	Atypical behavior	7025	NR2F1	ORPHA:401777
HP:0000708	Atypical behavior	8905	AP1S2	ORPHA:85335
HP:0000708	Atypical behavior	22859	ADGRL1	OMIM:620065
HP:0000708	Atypical behavior	55719	SLF2	OMIM:620184
HP:0000708	Atypical behavior	55343	SLC35C1	OMIM:266265
HP:0000708	Atypical behavior	55343	SLC35C1	ORPHA:99843
HP:0000708	Atypical behavior	6558	SLC12A2	OMIM:619083
HP:0000708	Atypical behavior	57459	GATAD2B	ORPHA:363686
HP:0000708	Atypical behavior	4784	NFIX	OMIM:614753
HP:0000708	Atypical behavior	1013	CDH15	OMIM:612580
HP:0000708	Atypical behavior	79718	TBL1XR1	OMIM:616944
HP:0000708	Atypical behavior	81846	SBF2	ORPHA:99956
HP:0000708	Atypical behavior	92154	MTSS2	OMIM:620086
HP:0000708	Atypical behavior	55690	PACS1	ORPHA:329224
HP:0000708	Atypical behavior	22907	DHX30	OMIM:617804
HP:0000708	Atypical behavior	3720	JARID2	OMIM:620098
HP:0000708	Atypical behavior	11133	KPTN	OMIM:615637
HP:0000708	Atypical behavior	11133	KPTN	ORPHA:397612
HP:0000708	Atypical behavior	22845	DOLK	ORPHA:91131
HP:0000708	Atypical behavior	26115	TANC2	OMIM:618906
HP:0000708	Atypical behavior	55593	OTUD5	OMIM:301056
HP:0000708	Atypical behavior	2334	AFF2	ORPHA:100973
HP:0000708	Atypical behavior	79587	CARS2	ORPHA:477774
HP:0000708	Atypical behavior	23291	FBXW11	OMIM:618914
HP:0000708	Atypical behavior	55784	MCTP2	ORPHA:1596
HP:0000708	Atypical behavior	8085	KMT2D	ORPHA:2322
HP:0000708	Atypical behavior	3097	HIVEP2	OMIM:616977
HP:0000708	Atypical behavior	2891	GRIA2	OMIM:618917
HP:0000708	Atypical behavior	4131	MAP1B	OMIM:618918
HP:0000708	Atypical behavior	2592	GALT	ORPHA:79239
HP:0000708	Atypical behavior	63035	BCORL1	OMIM:301029
HP:0000708	Atypical behavior	7874	USP7	OMIM:616863
HP:0000708	Atypical behavior	7874	USP7	ORPHA:500055
HP:0000708	Atypical behavior	1000	CDH2	OMIM:618929
HP:0000708	Atypical behavior	1105	CHD1	ORPHA:529965
HP:0000708	Atypical behavior	23152	CIC	OMIM:617600
HP:0000708	Atypical behavior	7074	TIAM1	OMIM:619908
HP:0000708	Atypical behavior	116442	RAB39B	OMIM:300271
HP:0000708	Atypical behavior	58494	JAM2	OMIM:618824
HP:0000708	Atypical behavior	79853	TM4SF20	OMIM:615432
HP:0000708	Atypical behavior	490	ATP2B1	OMIM:619910
HP:0000708	Atypical behavior	6925	TCF4	ORPHA:2896
HP:0000708	Atypical behavior	63932	STEEP1	OMIM:301013
HP:0000708	Atypical behavior	6857	SYT1	ORPHA:522077
HP:0000708	Atypical behavior	22871	NLGN1	OMIM:618830
HP:0000708	Atypical behavior	10585	POMT1	ORPHA:86812
HP:0000708	Atypical behavior	9918	NCAPD2	OMIM:617983
HP:0000708	Atypical behavior	54870	QRICH1	OMIM:617982
HP:0000708	Atypical behavior	57688	ZSWIM6	OMIM:617865
HP:0000708	Atypical behavior	2890	GRIA1	OMIM:619927
HP:0000708	Atypical behavior	10522	DEAF1	ORPHA:468620
HP:0000708	Atypical behavior	84628	NTNG2	OMIM:618718
HP:0000708	Atypical behavior	6853	SYN1	OMIM:300491
HP:0000708	Atypical behavior	57502	NLGN4X	OMIM:300495
HP:0000708	Atypical behavior	4047	LSS	OMIM:618840
HP:0000708	Atypical behavior	9320	TRIP12	OMIM:617752
HP:0000708	Atypical behavior	84631	SLITRK2	OMIM:301107
HP:0000708	Atypical behavior	51780	KDM3B	OMIM:618846
HP:0000708	Atypical behavior	51317	PHF21A	OMIM:618725
HP:0000708	Atypical behavior	5455	POU3F3	OMIM:618604
HP:0000708	Atypical behavior	5430	POLR2A	OMIM:618603
HP:0000708	Atypical behavior	2182	ACSL4	OMIM:300387
HP:0000708	Atypical behavior	9699	RIMS2	OMIM:618970
HP:0000708	Atypical behavior	23309	SIN3B	ORPHA:500166
HP:0000708	Atypical behavior	23102	TBC1D2B	ORPHA:397973
HP:0000708	Atypical behavior	55553	SOX6	OMIM:618971
HP:0000708	Atypical behavior	7545	ZIC1	OMIM:618736
HP:0000708	Atypical behavior	4281	MID1	ORPHA:2745
HP:0000708	Atypical behavior	4858	NOVA2	OMIM:618859
HP:0000708	Atypical behavior	6736	SRY	ORPHA:1772
HP:0000708	Atypical behavior	84148	KAT8	OMIM:618974
HP:0000708	Atypical behavior	91801	ALKBH8	OMIM:618504
HP:0000708	Atypical behavior	283489	CHAMP1	OMIM:616579
HP:0000708	Atypical behavior	80055	PGAP1	OMIM:615802
HP:0000708	Atypical behavior	63908	NAPB	OMIM:620033
HP:0000708	Atypical behavior	10087	CERT1	OMIM:616351
HP:0000708	Atypical behavior	1656	DDX6	OMIM:618653
HP:0000708	Atypical behavior	10815	CPLX1	OMIM:194190
HP:0000708	Atypical behavior	1487	CTBP1	OMIM:194190
HP:0000708	Atypical behavior	53834	FGFRL1	OMIM:194190
HP:0000708	Atypical behavior	3954	LETM1	OMIM:194190
HP:0000708	Atypical behavior	339983	NAT8L	OMIM:614063
HP:0000708	Atypical behavior	116115	ZNF526	OMIM:619877
HP:0000708	Atypical behavior	10236	HNRNPR	OMIM:620073
HP:0000708	Atypical behavior	4677	NARS1	OMIM:619092
HP:0000708	Atypical behavior	51574	LARP7	ORPHA:319671
HP:0000708	Atypical behavior	7407	VARS1	OMIM:617802
HP:0000708	Atypical behavior	10785	WDR4	OMIM:618347
HP:0000708	Atypical behavior	79903	NAA60	OMIM:620786
HP:0000708	Atypical behavior	23499	MACF1	ORPHA:572013
HP:0000708	Atypical behavior	6904	TBCD	ORPHA:496641
HP:0000708	Atypical behavior	112939	NACC1	OMIM:617393
HP:0000708	Atypical behavior	122553	TRAPPC6B	OMIM:617862
HP:0000708	Atypical behavior	10577	NPC2	OMIM:607625
HP:0000708	Atypical behavior	8942	KYNU	ORPHA:79155
HP:0000708	Atypical behavior	6683	SPAST	OMIM:182601
HP:0000708	Atypical behavior	5524	PTPA	OMIM:620482
HP:0000708	Atypical behavior	435	ASL	ORPHA:23
HP:0000708	Atypical behavior	54499	TMCO1	OMIM:213980
HP:0000708	Atypical behavior	100147744	RNU7-1	OMIM:619487
HP:0000708	Atypical behavior	54820	NDE1	OMIM:605013
HP:0000708	Atypical behavior	113246	C12orf57	OMIM:218340
HP:0000708	Atypical behavior	818	CAMK2G	OMIM:618522
HP:0000708	Atypical behavior	8218	CLTCL1	ORPHA:453510
HP:0000708	Atypical behavior	549	AUH	OMIM:250950
HP:0000708	Atypical behavior	55181	SMG8	OMIM:619268
HP:0000708	Atypical behavior	8242	KDM5C	OMIM:300534
HP:0000708	Atypical behavior	7543	ZFX	OMIM:301118
HP:0000708	Atypical behavior	2737	GLI3	ORPHA:672
HP:0000708	Atypical behavior	9894	TELO2	OMIM:616954
HP:0000708	Atypical behavior	348	APOE	OMIM:607822
HP:0000708	Atypical behavior	7072	TIA1	OMIM:619133
HP:0000708	Atypical behavior	540	ATP7B	ORPHA:905
HP:0000708	Atypical behavior	540	ATP7B	OMIM:277900
HP:0000708	Atypical behavior	4287	ATXN3	OMIM:168600
HP:0000708	Atypical behavior	126	ADH1C	OMIM:168600
HP:0000708	Atypical behavior	4576	MT-TT	OMIM:168600
HP:0000708	Atypical behavior	9627	SNCAIP	OMIM:168600
HP:0000708	Atypical behavior	6315	ATXN8OS	OMIM:168600
HP:0000708	Atypical behavior	8036	SHOC2	OMIM:607721
HP:0000708	Atypical behavior	7253	TSHR	ORPHA:99819
HP:0000708	Atypical behavior	7253	TSHR	ORPHA:424
HP:0000708	Atypical behavior	7253	TSHR	OMIM:609152
HP:0000708	Atypical behavior	10730	YME1L1	OMIM:617302
HP:0000708	Atypical behavior	26580	BSCL2	OMIM:615924
HP:0000708	Atypical behavior	26580	BSCL2	ORPHA:363400
HP:0000708	Atypical behavior	83696	TRAPPC9	OMIM:613192
HP:0000708	Atypical behavior	8558	CDK10	OMIM:617694
HP:0000708	Atypical behavior	54862	CC2D1A	OMIM:608443
HP:0000708	Atypical behavior	147372	CCBE1	OMIM:235510
HP:0000708	Atypical behavior	6509	SLC1A4	ORPHA:447997
HP:0000708	Atypical behavior	6509	SLC1A4	OMIM:616657
HP:0000708	Atypical behavior	7068	THRB	ORPHA:566243
HP:0000708	Atypical behavior	54808	DYM	ORPHA:239
HP:0000708	Atypical behavior	10075	HUWE1	OMIM:309590
HP:0000708	Atypical behavior	6448	SGSH	OMIM:252900
HP:0000708	Atypical behavior	4683	NBN	OMIM:251260
HP:0000708	Atypical behavior	1815	DRD4	OMIM:143465
HP:0000708	Atypical behavior	1816	DRD5	OMIM:143465
HP:0000708	Atypical behavior	361	AQP4	OMIM:620448
HP:0000708	Atypical behavior	9675	TTI1	OMIM:620445
HP:0000708	Atypical behavior	23258	DENND5A	OMIM:617281
HP:0000708	Atypical behavior	51305	KCNK9	ORPHA:166108
HP:0000708	Atypical behavior	545	ATR	OMIM:210600
HP:0000708	Atypical behavior	10367	MICU1	OMIM:615673
HP:0000708	Atypical behavior	10681	GNB5	OMIM:617182
HP:0000708	Atypical behavior	57477	SHROOM4	ORPHA:85288
HP:0000708	Atypical behavior	95	ACY1	OMIM:609924
HP:0000708	Atypical behavior	11043	MID2	OMIM:300928
HP:0000708	Atypical behavior	1804	DPP6	OMIM:616311
HP:0000708	Atypical behavior	5518	PPP2R1A	ORPHA:457284
HP:0000708	Atypical behavior	261734	NPHP4	OMIM:606996
HP:0000708	Atypical behavior	261734	NPHP4	OMIM:606966
HP:0000708	Atypical behavior	284086	NEK8	OMIM:620903
HP:0000708	Atypical behavior	284086	NEK8	OMIM:613824
HP:0000708	Atypical behavior	3766	KCNJ10	ORPHA:199343
HP:0000708	Atypical behavior	3766	KCNJ10	OMIM:612780
HP:0000708	Atypical behavior	79577	CDC73	ORPHA:143
HP:0000708	Atypical behavior	79577	CDC73	ORPHA:99880
HP:0000708	Atypical behavior	10686	CLDN16	OMIM:248250
HP:0000708	Atypical behavior	199221	DZIP1L	ORPHA:731
HP:0000708	Atypical behavior	9071	CLDN10	OMIM:617671
HP:0000708	Atypical behavior	9365	KL	OMIM:617994
HP:0000708	Atypical behavior	551	AVP	ORPHA:30925
HP:0000708	Atypical behavior	3762	KCNJ5	OMIM:613677
HP:0000708	Atypical behavior	3762	KCNJ5	ORPHA:251274
HP:0000708	Atypical behavior	5078	PAX4	OMIM:612225
HP:0000708	Atypical behavior	3643	INSR	ORPHA:769
HP:0000708	Atypical behavior	1584	CYP11B1	ORPHA:403
HP:0000708	Atypical behavior	1585	CYP11B2	ORPHA:403
HP:0000708	Atypical behavior	3291	HSD11B2	ORPHA:320
HP:0000708	Atypical behavior	3710	ITPR3	OMIM:222100
HP:0000708	Atypical behavior	3569	IL6	OMIM:222100
HP:0000708	Atypical behavior	6927	HNF1A	OMIM:222100
HP:0000708	Atypical behavior	776	CACNA1D	ORPHA:369929
HP:0000708	Atypical behavior	254428	SLC41A1	OMIM:619468
HP:0000708	Atypical behavior	3758	KCNJ1	OMIM:241200
HP:0000708	Atypical behavior	9860	LRIG2	ORPHA:2704
HP:0000708	Atypical behavior	60495	HPSE2	ORPHA:2704
HP:0000708	Atypical behavior	6559	SLC12A3	OMIM:263800
HP:0000708	Atypical behavior	6559	SLC12A3	ORPHA:358
HP:0000708	Atypical behavior	27031	NPHP3	OMIM:604387
HP:0000708	Atypical behavior	6524	SLC5A2	OMIM:233100
HP:0000708	Atypical behavior	8974	P4HA2	ORPHA:397
HP:0000708	Atypical behavior	54790	TET2	ORPHA:98850
HP:0000708	Atypical behavior	54790	TET2	ORPHA:824
HP:0000708	Atypical behavior	867	CBL	ORPHA:98850
HP:0000708	Atypical behavior	861	RUNX1	ORPHA:98850
HP:0000708	Atypical behavior	6427	SRSF2	ORPHA:98850
HP:0000708	Atypical behavior	3155	HMGCL	ORPHA:20
HP:0000708	Atypical behavior	811	CALR	ORPHA:824
HP:0000708	Atypical behavior	4352	MPL	ORPHA:824
HP:0000708	Atypical behavior	3717	JAK2	ORPHA:824
HP:0000708	Atypical behavior	5314	PKHD1	ORPHA:53035
HP:0000708	Atypical behavior	5009	OTC	ORPHA:664
HP:0000708	Atypical behavior	249	ALPL	OMIM:241500
HP:0000708	Atypical behavior	672	BRCA1	ORPHA:70567
HP:0000708	Atypical behavior	672	BRCA1	ORPHA:1333
HP:0000708	Atypical behavior	5774	PTPN3	ORPHA:70567
HP:0000708	Atypical behavior	6098	ROS1	ORPHA:70567
HP:0000708	Atypical behavior	10560	SLC19A2	ORPHA:49827
HP:0000708	Atypical behavior	2215	FCGR3B	ORPHA:536
HP:0000708	Atypical behavior	3684	ITGAM	ORPHA:536
HP:0000708	Atypical behavior	221895	JAZF1	ORPHA:536
HP:0000708	Atypical behavior	7292	TNFSF4	ORPHA:536
HP:0000708	Atypical behavior	640	BLK	ORPHA:536
HP:0000708	Atypical behavior	55024	BANK1	ORPHA:536
HP:0000708	Atypical behavior	3500	IGHG1	ORPHA:536
HP:0000708	Atypical behavior	3654	IRAK1	ORPHA:536
HP:0000708	Atypical behavior	1493	CTLA4	ORPHA:536
HP:0000708	Atypical behavior	1380	CR2	ORPHA:536
HP:0000708	Atypical behavior	5133	PDCD1	ORPHA:536
HP:0000708	Atypical behavior	2113	ETS1	ORPHA:536
HP:0000708	Atypical behavior	2213	FCGR2B	ORPHA:536
HP:0000708	Atypical behavior	10318	TNIP1	ORPHA:536
HP:0000708	Atypical behavior	7332	UBE2L3	ORPHA:536
HP:0000708	Atypical behavior	79932	KIAA0319L	ORPHA:536
HP:0000708	Atypical behavior	3663	IRF5	ORPHA:536
HP:0000708	Atypical behavior	721	C4B	ORPHA:536
HP:0000708	Atypical behavior	1773	DNASE1	ORPHA:536
HP:0000708	Atypical behavior	51284	TLR7	ORPHA:536
HP:0000708	Atypical behavior	6696	SPP1	ORPHA:536
HP:0000708	Atypical behavior	54899	PXK	ORPHA:536
HP:0000708	Atypical behavior	7128	TNFAIP3	ORPHA:536
HP:0000708	Atypical behavior	915	CD3D	ORPHA:169160
HP:0000708	Atypical behavior	916	CD3E	ORPHA:169160
HP:0000708	Atypical behavior	919	CD247	ORPHA:169160
HP:0000708	Atypical behavior	3141	HLCS	ORPHA:79242
HP:0000708	Atypical behavior	285282	RABL3	ORPHA:1333
HP:0000708	Atypical behavior	1029	CDKN2A	ORPHA:1333
HP:0000708	Atypical behavior	79728	PALB2	ORPHA:1333
HP:0000708	Atypical behavior	23022	PALLD	ORPHA:1333
HP:0000708	Atypical behavior	595	CCND1	ORPHA:52416
HP:0000708	Atypical behavior	3492	IGH	ORPHA:52416
HP:0000708	Atypical behavior	6521	SLC4A1	OMIM:611590
HP:0000708	Atypical behavior	7040	TGFB1	ORPHA:1328
HP:0000708	Atypical behavior	554	AVPR2	ORPHA:223
HP:0000708	Atypical behavior	359	AQP2	ORPHA:223
HP:0000708	Atypical behavior	3662	IRF4	ORPHA:3452
HP:0000708	Atypical behavior	38	ACAT1	ORPHA:134
HP:0000708	Atypical behavior	1027	CDKN1B	ORPHA:652
HP:0000708	Atypical behavior	1026	CDKN1A	ORPHA:652
HP:0000708	Atypical behavior	1030	CDKN2B	ORPHA:652
HP:0000708	Atypical behavior	1031	CDKN2C	ORPHA:652
HP:0000708	Atypical behavior	3593	IL12B	ORPHA:3287
HP:0000708	Atypical behavior	6945	MLX	ORPHA:3287
HP:0000708	Atypical behavior	6850	SYK	OMIM:619381
HP:0000708	Atypical behavior	6774	STAT3	ORPHA:520
HP:0000708	Atypical behavior	5371	PML	ORPHA:520
HP:0000708	Atypical behavior	5914	RARA	ORPHA:520
HP:0000708	Atypical behavior	359948	IRF2BP2	ORPHA:520
HP:0000708	Atypical behavior	81608	FIP1L1	ORPHA:520
HP:0000708	Atypical behavior	4869	NPM1	ORPHA:520
HP:0000708	Atypical behavior	64859	NABP1	ORPHA:520
HP:0000708	Atypical behavior	6777	STAT5B	ORPHA:520
HP:0000708	Atypical behavior	4926	NUMA1	ORPHA:520
HP:0000708	Atypical behavior	7704	ZBTB16	ORPHA:520
HP:0000708	Atypical behavior	56246	MRAP	ORPHA:361
HP:0000708	Atypical behavior	6770	STAR	ORPHA:361
HP:0000708	Atypical behavior	4158	MC2R	ORPHA:361
HP:0000708	Atypical behavior	23530	NNT	ORPHA:361
HP:0000708	Atypical behavior	10587	TXNRD2	ORPHA:361
HP:0000708	Atypical behavior	4615	MYD88	ORPHA:33226
HP:0000708	Atypical behavior	9054	NFS1	OMIM:619386
HP:0000708	Atypical behavior	4594	MMUT	ORPHA:79312
HP:0000708	Atypical behavior	950	SCARB2	ORPHA:77259
HP:0000708	Atypical behavior	11160	ERLIN2	ORPHA:247604
HP:0000708	Atypical behavior	83480	PUS3	ORPHA:488627
HP:0000708	Atypical behavior	5122	PCSK1	ORPHA:71528
HP:0000708	Atypical behavior	4160	MC4R	ORPHA:71529
HP:0000708	Atypical behavior	4160	MC4R	OMIM:618406
HP:0000708	Atypical behavior	5443	POMC	ORPHA:71526
HP:0000708	Atypical behavior	5443	POMC	OMIM:609734
HP:0000708	Atypical behavior	3952	LEP	ORPHA:66628
HP:0000708	Atypical behavior	3952	LEP	OMIM:614962
HP:0000708	Atypical behavior	6519	SLC3A1	ORPHA:163690
HP:0000708	Atypical behavior	9581	PREPL	ORPHA:163690
HP:0000708	Atypical behavior	3767	KCNJ11	ORPHA:276580
HP:0000708	Atypical behavior	506	ATP5F1B	OMIM:620085
HP:0000708	Atypical behavior	10555	AGPAT2	OMIM:608594
HP:0000708	Atypical behavior	4330	MN1	OMIM:618774
HP:0000708	Atypical behavior	83550	GPR101	OMIM:300942
HP:0000708	Atypical behavior	109	ADCY3	OMIM:617885
HP:0000708	Atypical behavior	7351	UCP2	ORPHA:276556
HP:0000708	Atypical behavior	10472	ZBTB18	OMIM:612337
HP:0000708	Atypical behavior	3199	HOXA2	ORPHA:83463
HP:0000708	Atypical behavior	55790	CSGALNACT1	OMIM:618870
HP:0000708	Atypical behavior	27102	EIF2AK1	OMIM:618878
HP:0000708	Atypical behavior	7252	TSHB	ORPHA:90674
HP:0000708	Atypical behavior	57589	RIC1	OMIM:618761
HP:0000708	Atypical behavior	3190	HNRNPK	OMIM:616580
HP:0000708	Atypical behavior	10528	NOP56	ORPHA:276198
HP:0000708	Atypical behavior	2746	GLUD1	ORPHA:35878
HP:0000708	Atypical behavior	30011	SH3KBP1	OMIM:300310
HP:0000708	Atypical behavior	84138	SLC7A6OS	OMIM:619191
HP:0000708	Atypical behavior	23137	SMC5	OMIM:620185
HP:0000708	Atypical behavior	8517	IKBKG	ORPHA:464
HP:0000708	Atypical behavior	3481	IGF2	ORPHA:397590
HP:0000708	Atypical behavior	1028	CDKN1C	ORPHA:397590
HP:0000708	Atypical behavior	5324	PLAG1	ORPHA:397590
HP:0000708	Atypical behavior	8091	HMGA2	ORPHA:397590
HP:0000708	Atypical behavior	55120	FANCL	OMIM:614083
HP:0000708	Atypical behavior	9928	KIF14	OMIM:617914
HP:0000708	Atypical behavior	54148	MRPL39	OMIM:620646
HP:0000708	Atypical behavior	5587	PRKD1	OMIM:617364
HP:0000708	Atypical behavior	1642	DDB1	OMIM:619426
HP:0000708	Atypical behavior	63895	PIEZO2	ORPHA:2461
HP:0000708	Atypical behavior	1801	DPH1	ORPHA:459061
HP:0000708	Atypical behavior	1802	DPH2	ORPHA:459061
HP:0000708	Atypical behavior	3712	IVD	ORPHA:33
HP:0000708	Atypical behavior	56521	DNAJC12	OMIM:617384
HP:0000708	Atypical behavior	55262	TRAPPC14	OMIM:618351
HP:0000708	Atypical behavior	11151	CORO1A	OMIM:615401
HP:0000708	Atypical behavior	84679	SLC9A7	OMIM:301024
HP:0000708	Atypical behavior	1741	DLG3	OMIM:300850
HP:0000708	Atypical behavior	7846	TUBA1A	ORPHA:467166
HP:0000708	Atypical behavior	5582	PRKCG	OMIM:605361
HP:0000708	Atypical behavior	6907	TBL1X	OMIM:301033
HP:0000708	Atypical behavior	121278	TPH2	OMIM:613003
HP:0000708	Atypical behavior	51729	WBP11	OMIM:619227
HP:0000708	Atypical behavior	55186	SLC25A36	OMIM:620211
HP:0000708	Atypical behavior	55526	DHTKD1	OMIM:204750
HP:0000708	Atypical behavior	4659	PPP1R12A	OMIM:618820
HP:0000708	Atypical behavior	3839	KPNA3	OMIM:620106
HP:0000708	Atypical behavior	2177	FANCD2	OMIM:227646
HP:0000708	Atypical behavior	1512	CTSH	ORPHA:2073
HP:0000708	Atypical behavior	5032	P2RY11	ORPHA:2073
HP:0000708	Atypical behavior	4340	MOG	ORPHA:2073
HP:0000708	Atypical behavior	3739	KCNA4	OMIM:618284
HP:0000708	Atypical behavior	10020	GNE	OMIM:269921
HP:0000708	Atypical behavior	10020	GNE	ORPHA:3166
HP:0000708	Atypical behavior	5116	PCNT	ORPHA:2637
HP:0000708	Atypical behavior	203190	LGI3	OMIM:620007
HP:0000708	Atypical behavior	129285	PPP1R21	OMIM:619383
HP:0000708	Atypical behavior	2261	FGFR3	OMIM:602849
HP:0000708	Atypical behavior	64682	ANAPC1	ORPHA:221008
HP:0000708	Atypical behavior	291	SLC25A4	ORPHA:254892
HP:0000708	Atypical behavior	56652	TWNK	ORPHA:254892
HP:0000708	Atypical behavior	11232	POLG2	ORPHA:254892
HP:0000708	Atypical behavior	50484	RRM2B	ORPHA:254892
HP:0000708	Atypical behavior	4558	MT-TF	ORPHA:550
HP:0000708	Atypical behavior	4572	MT-TQ	ORPHA:550
HP:0000708	Atypical behavior	4512	MT-CO1	ORPHA:550
HP:0000708	Atypical behavior	4513	MT-CO2	ORPHA:550
HP:0000708	Atypical behavior	4514	MT-CO3	ORPHA:550
HP:0000708	Atypical behavior	4578	MT-TW	ORPHA:550
HP:0000708	Atypical behavior	4540	MT-ND5	ORPHA:550
HP:0000708	Atypical behavior	4541	MT-ND6	ORPHA:550
HP:0000708	Atypical behavior	4535	MT-ND1	ORPHA:550
HP:0000708	Atypical behavior	4538	MT-ND4	ORPHA:550
HP:0000708	Atypical behavior	4567	MT-TL1	ORPHA:550
HP:0000708	Atypical behavior	4574	MT-TS1	ORPHA:550
HP:0000708	Atypical behavior	4575	MT-TS2	ORPHA:550
HP:0000708	Atypical behavior	4564	MT-TH	ORPHA:550
HP:0000708	Atypical behavior	64601	VPS16	OMIM:619291
HP:0000708	Atypical behavior	79152	FA2H	ORPHA:329308
HP:0000708	Atypical behavior	93627	TBCK	ORPHA:488632
HP:0000708	Atypical behavior	5159	PDGFRB	OMIM:615007
HP:0000708	Atypical behavior	488	ATP2A2	ORPHA:218
HP:0000708	Atypical behavior	488	ATP2A2	OMIM:124200
HP:0000708	Atypical behavior	10137	RBM12	OMIM:617629
HP:0000708	Atypical behavior	2313	FLI1	ORPHA:2308
HP:0000708	Atypical behavior	131118	DNAJC19	ORPHA:66634
HP:0000708	Atypical behavior	2137	EXTL3	ORPHA:508533
HP:0000708	Atypical behavior	51	ACOX1	OMIM:264470
HP:0000708	Atypical behavior	84340	GFM2	ORPHA:565624
HP:0000708	Atypical behavior	2778	GNAS	ORPHA:562
HP:0000708	Atypical behavior	1725	DHPS	OMIM:618480
HP:0000708	Atypical behavior	51324	SPG21	ORPHA:101001
HP:0000708	Atypical behavior	1813	DRD2	ORPHA:36899
HP:0000708	Atypical behavior	8910	SGCE	ORPHA:36899
HP:0000708	Atypical behavior	79734	KCTD17	ORPHA:36899
HP:0000708	Atypical behavior	1861	TOR1A	ORPHA:36899
HP:0000708	Atypical behavior	7504	XK	OMIM:300842
HP:0000708	Atypical behavior	5281	PIGF	OMIM:619356
HP:0000708	Atypical behavior	10059	DNM1L	OMIM:614388
HP:0000708	Atypical behavior	9731	CEP104	OMIM:619988
HP:0000708	Atypical behavior	9698	PUM1	OMIM:620719
HP:0000708	Atypical behavior	10682	EBP	ORPHA:401973
HP:0000708	Atypical behavior	410	ARSA	ORPHA:309271
HP:0000708	Atypical behavior	410	ARSA	ORPHA:309263
HP:0000708	Atypical behavior	410	ARSA	ORPHA:309256
HP:0000708	Atypical behavior	5660	PSAP	ORPHA:309271
HP:0000708	Atypical behavior	5660	PSAP	ORPHA:309263
HP:0000708	Atypical behavior	5660	PSAP	ORPHA:309256
HP:0000708	Atypical behavior	6513	SLC2A1	ORPHA:64280
HP:0000708	Atypical behavior	2554	GABRA1	ORPHA:64280
HP:0000708	Atypical behavior	8912	CACNA1H	ORPHA:64280
HP:0000708	Atypical behavior	8629	JRK	ORPHA:64280
HP:0000708	Atypical behavior	6804	STX1A	ORPHA:904
HP:0000708	Atypical behavior	7461	CLIP2	ORPHA:904
HP:0000708	Atypical behavior	84277	DNAJC30	ORPHA:904
HP:0000708	Atypical behavior	8468	FKBP6	ORPHA:904
HP:0000708	Atypical behavior	5982	RFC2	ORPHA:904
HP:0000708	Atypical behavior	2969	GTF2I	ORPHA:904
HP:0000708	Atypical behavior	3984	LIMK1	ORPHA:904
HP:0000708	Atypical behavior	9569	GTF2IRD1	ORPHA:904
HP:0000708	Atypical behavior	155382	VPS37D	ORPHA:904
HP:0000708	Atypical behavior	155368	METTL27	ORPHA:904
HP:0000708	Atypical behavior	114049	BUD23	ORPHA:904
HP:0000708	Atypical behavior	7458	EIF4H	ORPHA:904
HP:0000708	Atypical behavior	84163	GTF2IRD2	ORPHA:904
HP:0000708	Atypical behavior	26608	TBL2	ORPHA:904
HP:0000708	Atypical behavior	653361	NCF1	ORPHA:904
HP:0000708	Atypical behavior	135886	TMEM270	ORPHA:904
HP:0000708	Atypical behavior	9031	BAZ1B	ORPHA:904
HP:0000708	Atypical behavior	5664	PSEN2	ORPHA:1020
HP:0000708	Atypical behavior	10452	TOMM40	ORPHA:1020
HP:0000708	Atypical behavior	10347	ABCA7	ORPHA:1020
HP:0000708	Atypical behavior	6653	SORL1	ORPHA:1020
HP:0000708	Atypical behavior	5457	POU4F1	ORPHA:314647
HP:0000708	Atypical behavior	23261	CAMTA1	ORPHA:314647
HP:0000708	Atypical behavior	11113	CIT	OMIM:617090
HP:0000708	Atypical behavior	80856	LNPK	OMIM:618090
HP:0000708	Atypical behavior	51645	PPIL1	OMIM:619301
HP:0000708	Atypical behavior	57511	COG6	ORPHA:363523
HP:0000708	Atypical behavior	51362	CDC40	OMIM:619302
HP:0000708	Atypical behavior	8913	CACNA1G	OMIM:618087
HP:0000708	Atypical behavior	6833	ABCC8	OMIM:618857
HP:0000708	Atypical behavior	79971	WLS	OMIM:619648
HP:0000708	Atypical behavior	271	AMPD2	OMIM:615809
HP:0000708	Atypical behavior	3708	ITPR1	ORPHA:208513
HP:0000708	Atypical behavior	2887	GRB10	ORPHA:96182
HP:0000708	Atypical behavior	9056	SLC7A7	ORPHA:470
HP:0000708	Atypical behavior	78987	CRELD1	OMIM:620771
HP:0000708	Atypical behavior	10771	ZMYND11	OMIM:616083
HP:0000708	Atypical behavior	84894	LINGO1	OMIM:618103
HP:0000708	Atypical behavior	440138	ALG11	ORPHA:280071
HP:0000708	Atypical behavior	8925	HERC1	ORPHA:457359
HP:0000708	Atypical behavior	4123	MAN2C1	OMIM:619775
HP:0000708	Atypical behavior	5119	CHMP1A	OMIM:614961
HP:0000708	Atypical behavior	10352	WARS2	OMIM:619738
HP:0000708	Atypical behavior	404672	GTF2H5	ORPHA:33364
HP:0000708	Atypical behavior	2068	ERCC2	ORPHA:33364
HP:0000708	Atypical behavior	7737	RNF113A	ORPHA:33364
HP:0000708	Atypical behavior	136647	MPLKIP	ORPHA:33364
HP:0000708	Atypical behavior	6897	TARS1	ORPHA:33364
HP:0000708	Atypical behavior	2071	ERCC3	ORPHA:33364
HP:0000708	Atypical behavior	2961	GTF2E2	ORPHA:33364
HP:0000708	Atypical behavior	54832	VPS13C	ORPHA:2828
HP:0000708	Atypical behavior	11315	PARK7	ORPHA:2828
HP:0000708	Atypical behavior	7345	UCHL1	ORPHA:2828
HP:0000708	Atypical behavior	27429	HTRA2	ORPHA:2828
HP:0000708	Atypical behavior	9829	DNAJC6	ORPHA:2828
HP:0000708	Atypical behavior	5420	PODXL	ORPHA:2828
HP:0000708	Atypical behavior	65018	PINK1	ORPHA:2828
HP:0000708	Atypical behavior	5071	PRKN	ORPHA:2828
HP:0000708	Atypical behavior	56947	MFF	ORPHA:485421
HP:0000708	Atypical behavior	347733	TUBB2B	ORPHA:300573
HP:0000708	Atypical behavior	2314	FLII	ORPHA:819
HP:0000708	Atypical behavior	1457	CSNK2A1	OMIM:617062
HP:0000708	Atypical behavior	10524	KAT5	OMIM:619103
HP:0000708	Atypical behavior	51204	TACO1	OMIM:619052
HP:0000708	Atypical behavior	79796	ALG9	ORPHA:79328
HP:0000708	Atypical behavior	29968	PSAT1	ORPHA:284417
HP:0000708	Atypical behavior	80704	SLC19A3	ORPHA:263410
HP:0000708	Atypical behavior	54914	FOCAD	OMIM:619991
HP:0000708	Atypical behavior	6571	SLC18A2	ORPHA:352649
HP:0000708	Atypical behavior	374879	ZNF699	OMIM:619488
HP:0000708	Atypical behavior	60482	SLC5A7	ORPHA:98914
HP:0000708	Atypical behavior	4649	MYO9A	ORPHA:98914
HP:0000708	Atypical behavior	1305	COL13A1	ORPHA:98914
HP:0000708	Atypical behavior	1103	CHAT	ORPHA:98914
HP:0000708	Atypical behavior	6576	SLC25A1	ORPHA:98914
HP:0000708	Atypical behavior	6843	VAMP1	ORPHA:98914
HP:0000708	Atypical behavior	375790	AGRN	ORPHA:98914
HP:0000708	Atypical behavior	127833	SYT2	ORPHA:98914
HP:0000708	Atypical behavior	6572	SLC18A3	ORPHA:98914
HP:0000708	Atypical behavior	6616	SNAP25	ORPHA:98914
HP:0000708	Atypical behavior	6329	SCN4A	ORPHA:99734
HP:0000708	Atypical behavior	23592	LEMD3	ORPHA:166119
HP:0000708	Atypical behavior	50833	TAS2R16	OMIM:103780
HP:0000708	Atypical behavior	125	ADH1B	OMIM:103780
HP:0000708	Atypical behavior	7187	TRAF3	ORPHA:1930
HP:0000708	Atypical behavior	81622	UNC93B1	ORPHA:1930
HP:0000708	Atypical behavior	148022	TICAM1	ORPHA:1930
HP:0000708	Atypical behavior	7098	TLR3	ORPHA:1930
HP:0000708	Atypical behavior	4358	MPV17	OMIM:256810
HP:0000708	Atypical behavior	6687	SPG7	OMIM:607259
HP:0000708	Atypical behavior	84188	FAR1	OMIM:619338
HP:0000708	Atypical behavior	54840	APTX	OMIM:208920
HP:0000708	Atypical behavior	55187	VPS13D	OMIM:607317
HP:0000708	Atypical behavior	4884	NPTX1	OMIM:620158
HP:0000708	Atypical behavior	5155	PDGFB	OMIM:615483
HP:0000708	Atypical behavior	158	ADSL	OMIM:103050
HP:0000708	Atypical behavior	3183	HNRNPC	OMIM:620688
HP:0000708	Atypical behavior	10479	SLC9A6	OMIM:300243
HP:0000708	Atypical behavior	171023	ASXL1	ORPHA:97297
HP:0000708	Atypical behavior	55617	TASP1	OMIM:618950
HP:0000708	Atypical behavior	9230	RAB11B	OMIM:617807
HP:0000708	Atypical behavior	83479	DDX59	OMIM:174300
HP:0000708	Atypical behavior	284361	EMC10	OMIM:619264
HP:0000708	Atypical behavior	7175	TPR	OMIM:620393
HP:0000708	Atypical behavior	81839	VANGL1	ORPHA:3027
HP:0000708	Atypical behavior	80199	FUZ	ORPHA:3027
HP:0000708	Atypical behavior	79783	SUGCT	ORPHA:35706
HP:0000708	Atypical behavior	1786	DNMT1	OMIM:614116
HP:0000708	Atypical behavior	84274	COQ5	OMIM:619028
HP:0000708	Atypical behavior	199857	ALG14	OMIM:619031
HP:0000708	Atypical behavior	4897	NRCAM	OMIM:619833
HP:0000708	Atypical behavior	55904	KMT2E	OMIM:618512
HP:0000708	Atypical behavior	24142	NAA80	OMIM:620830
HP:0000708	Atypical behavior	1717	DHCR7	ORPHA:818
HP:0000708	Atypical behavior	5934	RBL2	OMIM:619690
HP:0000708	Atypical behavior	55250	ELP2	OMIM:617270
HP:0000708	Atypical behavior	23221	RHOBTB2	OMIM:618004
HP:0000708	Atypical behavior	23325	WASHC4	OMIM:615817
HP:0000708	Atypical behavior	51185	CRBN	OMIM:607417
HP:0000708	Atypical behavior	3340	NDST1	OMIM:616116
HP:0000708	Atypical behavior	3735	KARS1	OMIM:613641
HP:0000708	Atypical behavior	57680	CHD8	OMIM:615032
HP:0000708	Atypical behavior	259232	NALCN	ORPHA:371364
HP:0000708	Atypical behavior	285175	UNC80	ORPHA:371364
HP:0000708	Atypical behavior	25914	RTTN	ORPHA:468631
HP:0000708	Atypical behavior	8405	SPOP	OMIM:618828
HP:0000708	Atypical behavior	8936	WASF1	OMIM:618707
HP:0000708	Atypical behavior	6134	RPL10	ORPHA:435938
HP:0000708	Atypical behavior	3800	KIF5C	OMIM:615282
HP:0000708	Atypical behavior	55164	SHQ1	OMIM:619922
HP:0000708	Atypical behavior	79633	FAT4	ORPHA:314679
HP:0000708	Atypical behavior	8642	DCHS1	ORPHA:314679
HP:0000708	Atypical behavior	26154	ABCA12	ORPHA:457
HP:0000708	Atypical behavior	10430	TMEM147	OMIM:620075
HP:0000708	Atypical behavior	259266	ASPM	OMIM:608716
HP:0000708	Atypical behavior	2706	GJB2	ORPHA:494
HP:0000708	Atypical behavior	55367	PIDD1	OMIM:619827
HP:0000708	Atypical behavior	2744	GLS	OMIM:618339
HP:0000708	Atypical behavior	23590	PDSS1	OMIM:614651
HP:0000708	Atypical behavior	7399	USH2A	ORPHA:231178
HP:0000708	Atypical behavior	79955	PDZD7	ORPHA:231178
HP:0000708	Atypical behavior	4647	MYO7A	ORPHA:231178
HP:0000708	Atypical behavior	4647	MYO7A	ORPHA:231169
HP:0000708	Atypical behavior	25861	WHRN	ORPHA:231178
HP:0000708	Atypical behavior	26137	ZBTB20	OMIM:259050
HP:0000708	Atypical behavior	22	ABCB7	ORPHA:2802
HP:0000708	Atypical behavior	22	ABCB7	OMIM:301310
HP:0000708	Atypical behavior	23600	AMACR	ORPHA:79095
HP:0000708	Atypical behavior	23780	APOL2	OMIM:181500
HP:0000708	Atypical behavior	267012	DAOA	OMIM:181500
HP:0000708	Atypical behavior	3356	HTR2A	OMIM:181500
HP:0000708	Atypical behavior	6854	SYN2	OMIM:181500
HP:0000708	Atypical behavior	1814	DRD3	OMIM:181500
HP:0000708	Atypical behavior	27184	DISC2	OMIM:181500
HP:0000708	Atypical behavior	65078	RTN4R	OMIM:181500
HP:0000708	Atypical behavior	80832	APOL4	OMIM:181500
HP:0000708	Atypical behavior	1116	CHI3L1	OMIM:181500
HP:0000708	Atypical behavior	7401	CLRN1	ORPHA:231183
HP:0000708	Atypical behavior	22901	ARSG	ORPHA:231183
HP:0000708	Atypical behavior	3035	HARS1	ORPHA:231183
HP:0000708	Atypical behavior	84131	CEP78	ORPHA:231183
HP:0000708	Atypical behavior	147409	DSG4	ORPHA:573
HP:0000708	Atypical behavior	3892	KRT86	ORPHA:573
HP:0000708	Atypical behavior	3889	KRT83	ORPHA:573
HP:0000708	Atypical behavior	3887	KRT81	ORPHA:573
HP:0000708	Atypical behavior	24140	FTSJ1	OMIM:309549
HP:0000708	Atypical behavior	7169	TPM2	OMIM:609285
HP:0000708	Atypical behavior	847	CAT	ORPHA:926
HP:0000708	Atypical behavior	2629	GBA1	ORPHA:411602
HP:0000708	Atypical behavior	23317	DNAJC13	ORPHA:411602
HP:0000708	Atypical behavior	1981	EIF4G1	ORPHA:411602
HP:0000708	Atypical behavior	55737	VPS35	ORPHA:411602
HP:0000708	Atypical behavior	120892	LRRK2	ORPHA:411602
HP:0000708	Atypical behavior	26058	GIGYF2	ORPHA:411602
HP:0000708	Atypical behavior	6622	SNCA	ORPHA:411602
HP:0000708	Atypical behavior	4556	MT-TE	ORPHA:2596
HP:0000708	Atypical behavior	7080	NKX2-1	ORPHA:209905
HP:0000708	Atypical behavior	10083	USH1C	ORPHA:231169
HP:0000708	Atypical behavior	124590	USH1G	ORPHA:231169
HP:0000708	Atypical behavior	83715	ESPN	ORPHA:231169
HP:0000708	Atypical behavior	10518	CIB2	ORPHA:231169
HP:0000708	Atypical behavior	65217	PCDH15	ORPHA:231169
HP:0000708	Atypical behavior	210	ALAD	ORPHA:100924
HP:0000708	Atypical behavior	2760	GM2A	ORPHA:309246
HP:0000708	Atypical behavior	10717	AP4B1	ORPHA:280763
HP:0000708	Atypical behavior	10717	AP4B1	OMIM:614066
HP:0000708	Atypical behavior	9179	AP4M1	ORPHA:280763
HP:0000708	Atypical behavior	11154	AP4S1	ORPHA:280763
HP:0000708	Atypical behavior	11154	AP4S1	OMIM:614067
HP:0000708	Atypical behavior	23431	AP4E1	ORPHA:280763
HP:0000708	Atypical behavior	23431	AP4E1	OMIM:613744
HP:0000708	Atypical behavior	5422	POLA1	OMIM:301030
HP:0000708	Atypical behavior	4841	NONO	ORPHA:466791
HP:0000708	Atypical behavior	2332	FMR1	ORPHA:449291
HP:0000708	Atypical behavior	57102	FERRY3	OMIM:618221
HP:0000708	Atypical behavior	29072	SETD2	OMIM:616831
HP:0000708	Atypical behavior	6874	TAF4	OMIM:620450
HP:0000708	Atypical behavior	9790	BMS1	ORPHA:1114
HP:0000708	Atypical behavior	5339	PLEC	ORPHA:1114
HP:0000708	Atypical behavior	3691	ITGB4	ORPHA:1114
HP:0000708	Atypical behavior	54567	DLL4	ORPHA:1114
HP:0000708	Atypical behavior	1974	EIF4A2	OMIM:620455
HP:0000708	Atypical behavior	391356	PTRHD1	OMIM:620747
HP:0000708	Atypical behavior	9881	TRANK1	ORPHA:33543
HP:0002457	Abnormal head movements	773	CACNA1A	ORPHA:71518
HP:0002457	Abnormal head movements	2593	GAMT	ORPHA:382
HP:0002457	Abnormal head movements	54112	GPR88	OMIM:616939
HP:0002457	Abnormal head movements	8260	NAA10	ORPHA:276432
HP:0002457	Abnormal head movements	5621	PRNP	ORPHA:157941
HP:0002457	Abnormal head movements	5192	PEX10	ORPHA:247815
HP:0002457	Abnormal head movements	2332	FMR1	OMIM:300624
HP:0002457	Abnormal head movements	16	AARS1	OMIM:619691
HP:0002457	Abnormal head movements	3735	KARS1	ORPHA:3240
HP:0002457	Abnormal head movements	5354	PLP1	OMIM:312080
HP:0002457	Abnormal head movements	7345	UCHL1	OMIM:615491
HP:0002457	Abnormal head movements	84504	NKX6-2	ORPHA:527497
HP:0002457	Abnormal head movements	84504	NKX6-2	OMIM:617560
HP:0002457	Abnormal head movements	6711	SPTBN1	OMIM:619475
HP:0002457	Abnormal head movements	57679	ALS2	OMIM:205100
HP:0002457	Abnormal head movements	57679	ALS2	ORPHA:300605
HP:0002457	Abnormal head movements	267010	RNU12	OMIM:620208
HP:0002457	Abnormal head movements	9725	TMEM63A	OMIM:618688
HP:0002457	Abnormal head movements	57165	GJC2	OMIM:608804
HP:0002457	Abnormal head movements	7274	TTPA	ORPHA:96
HP:0002457	Abnormal head movements	2521	FUS	ORPHA:300605
HP:0002457	Abnormal head movements	80208	SPG11	ORPHA:300605
HP:0002457	Abnormal head movements	10280	SIGMAR1	ORPHA:300605
HP:0002457	Abnormal head movements	10558	SPTLC1	ORPHA:300605
HP:0002457	Abnormal head movements	26275	HIBCH	ORPHA:88639
HP:0002457	Abnormal head movements	26275	HIBCH	OMIM:250620
HP:0002457	Abnormal head movements	5277	PIGA	OMIM:300868
HP:0002457	Abnormal head movements	3329	HSPD1	OMIM:612233
HP:0002457	Abnormal head movements	23230	VPS13A	ORPHA:2388
HP:0002457	Abnormal head movements	5610	EIF2AK2	OMIM:618877
HP:0002457	Abnormal head movements	10749	KIF1C	OMIM:611302
HP:0002457	Abnormal head movements	284217	LAMA1	ORPHA:370022
HP:0002457	Abnormal head movements	25885	POLR1A	OMIM:620675
HP:0002457	Abnormal head movements	4001	LMNB1	ORPHA:99027
HP:0002457	Abnormal head movements	5297	PI4KA	OMIM:619708
HP:0002457	Abnormal head movements	1737	DLAT	OMIM:245348
HP:0002457	Abnormal head movements	6513	SLC2A1	ORPHA:64280
HP:0002457	Abnormal head movements	2562	GABRB3	ORPHA:64280
HP:0002457	Abnormal head movements	2554	GABRA1	ORPHA:64280
HP:0002457	Abnormal head movements	8912	CACNA1H	ORPHA:64280
HP:0002457	Abnormal head movements	8629	JRK	ORPHA:64280
HP:0002457	Abnormal head movements	2566	GABRG2	ORPHA:64280
HP:0002457	Abnormal head movements	4137	MAPT	ORPHA:240103
HP:0002457	Abnormal head movements	6843	VAMP1	ORPHA:251282
HP:0002457	Abnormal head movements	51604	PIGT	ORPHA:369837
HP:0012332	Abnormal autonomic nervous system physiology	1534	CYB561	OMIM:618182
HP:0012332	Abnormal autonomic nervous system physiology	8518	ELP1	OMIM:223900
HP:0012332	Abnormal autonomic nervous system physiology	8518	ELP1	ORPHA:1764
HP:0012332	Abnormal autonomic nervous system physiology	1621	DBH	ORPHA:230
HP:0012332	Abnormal autonomic nervous system physiology	1621	DBH	OMIM:223360
HP:0012332	Abnormal autonomic nervous system physiology	1136	CHRNA3	OMIM:191800
HP:0012332	Abnormal autonomic nervous system physiology	29926	GMPPA	OMIM:615510
HP:0012332	Abnormal autonomic nervous system physiology	1585	CYP11B2	OMIM:610600
HP:0012332	Abnormal autonomic nervous system physiology	1585	CYP11B2	ORPHA:556030
HP:0012332	Abnormal autonomic nervous system physiology	538	ATP7A	OMIM:304150
HP:0012332	Abnormal autonomic nervous system physiology	84320	ACBD6	OMIM:620785
HP:0012332	Abnormal autonomic nervous system physiology	1277	COL1A1	ORPHA:287
HP:0012332	Abnormal autonomic nervous system physiology	1289	COL5A1	ORPHA:287
HP:0012332	Abnormal autonomic nervous system physiology	1290	COL5A2	ORPHA:287
HP:0012332	Abnormal autonomic nervous system physiology	2632	GBE1	OMIM:263570
HP:0012332	Abnormal autonomic nervous system physiology	857	CAV1	OMIM:606721
HP:0012332	Abnormal autonomic nervous system physiology	3594	IL12RB1	ORPHA:186
HP:0012332	Abnormal autonomic nervous system physiology	23534	TNPO3	ORPHA:186
HP:0012332	Abnormal autonomic nervous system physiology	3592	IL12A	ORPHA:186
HP:0012332	Abnormal autonomic nervous system physiology	6689	SPIB	ORPHA:186
HP:0012332	Abnormal autonomic nervous system physiology	5450	POU2AF1	ORPHA:186
HP:0012332	Abnormal autonomic nervous system physiology	9966	TNFSF15	ORPHA:186
HP:0012332	Abnormal autonomic nervous system physiology	79258	MMEL1	ORPHA:186
HP:0012332	Abnormal autonomic nervous system physiology	3663	IRF5	ORPHA:186
HP:0012332	Abnormal autonomic nervous system physiology	3074	HEXB	OMIM:268800
HP:0012332	Abnormal autonomic nervous system physiology	6288	SAA1	ORPHA:85445
HP:0012332	Abnormal autonomic nervous system physiology	51142	CHCHD2	OMIM:616710
HP:0012332	Abnormal autonomic nervous system physiology	80208	SPG11	ORPHA:2822
HP:0012332	Abnormal autonomic nervous system physiology	2934	GSN	OMIM:105120
HP:0012332	Abnormal autonomic nervous system physiology	23095	KIF1B	OMIM:256700
HP:0012332	Abnormal autonomic nervous system physiology	4613	MYCN	ORPHA:635
HP:0012332	Abnormal autonomic nervous system physiology	238	ALK	ORPHA:635
HP:0012332	Abnormal autonomic nervous system physiology	389421	LIN28B	ORPHA:635
HP:0012332	Abnormal autonomic nervous system physiology	4004	LMO1	ORPHA:635
HP:0012332	Abnormal autonomic nervous system physiology	57531	HACE1	ORPHA:635
HP:0012332	Abnormal autonomic nervous system physiology	410	ARSA	ORPHA:309271
HP:0012332	Abnormal autonomic nervous system physiology	5660	PSAP	ORPHA:309271
HP:0012332	Abnormal autonomic nervous system physiology	3953	LEPR	ORPHA:179494
HP:0012332	Abnormal autonomic nervous system physiology	23317	DNAJC13	ORPHA:411602
HP:0012332	Abnormal autonomic nervous system physiology	1981	EIF4G1	ORPHA:411602
HP:0012332	Abnormal autonomic nervous system physiology	55737	VPS35	ORPHA:411602
HP:0012332	Abnormal autonomic nervous system physiology	26058	GIGYF2	ORPHA:411602
HP:0012332	Abnormal autonomic nervous system physiology	3952	LEP	ORPHA:66628
HP:0012332	Abnormal autonomic nervous system physiology	11128	POLR3A	ORPHA:447896
HP:0012332	Abnormal autonomic nervous system physiology	2783	GNB2	OMIM:619503
HP:0012332	Abnormal autonomic nervous system physiology	6530	SLC6A2	OMIM:604715
HP:0012332	Abnormal autonomic nervous system physiology	6335	SCN9A	OMIM:133020
HP:0012332	Abnormal autonomic nervous system physiology	6335	SCN9A	OMIM:243000
HP:0012332	Abnormal autonomic nervous system physiology	5621	PRNP	ORPHA:282166
HP:0012332	Abnormal autonomic nervous system physiology	5621	PRNP	ORPHA:466
HP:0012332	Abnormal autonomic nervous system physiology	5621	PRNP	OMIM:600072
HP:0012332	Abnormal autonomic nervous system physiology	6622	SNCA	OMIM:605543
HP:0012332	Abnormal autonomic nervous system physiology	6622	SNCA	ORPHA:171695
HP:0012332	Abnormal autonomic nervous system physiology	6622	SNCA	ORPHA:2828
HP:0012332	Abnormal autonomic nervous system physiology	4287	ATXN3	OMIM:109150
HP:0012332	Abnormal autonomic nervous system physiology	4287	ATXN3	OMIM:168600
HP:0012332	Abnormal autonomic nervous system physiology	6492	SIM1	ORPHA:369873
HP:0012332	Abnormal autonomic nervous system physiology	11280	SCN11A	OMIM:615552
HP:0012332	Abnormal autonomic nervous system physiology	11280	SCN11A	OMIM:615548
HP:0012332	Abnormal autonomic nervous system physiology	55823	VPS11	OMIM:616683
HP:0012332	Abnormal autonomic nervous system physiology	55823	VPS11	ORPHA:466934
HP:0012332	Abnormal autonomic nervous system physiology	8929	PHOX2B	OMIM:209880
HP:0012332	Abnormal autonomic nervous system physiology	8929	PHOX2B	ORPHA:99803
HP:0012332	Abnormal autonomic nervous system physiology	22948	CCT5	ORPHA:139578
HP:0012332	Abnormal autonomic nervous system physiology	54832	VPS13C	OMIM:616840
HP:0012332	Abnormal autonomic nervous system physiology	54832	VPS13C	ORPHA:2828
HP:0012332	Abnormal autonomic nervous system physiology	6328	SCN3A	OMIM:617935
HP:0012332	Abnormal autonomic nervous system physiology	773	CACNA1A	ORPHA:2131
HP:0012332	Abnormal autonomic nervous system physiology	6507	SLC1A3	ORPHA:2131
HP:0012332	Abnormal autonomic nervous system physiology	477	ATP1A2	ORPHA:2131
HP:0012332	Abnormal autonomic nervous system physiology	478	ATP1A3	ORPHA:2131
HP:0012332	Abnormal autonomic nervous system physiology	27235	COQ2	ORPHA:227510
HP:0012332	Abnormal autonomic nervous system physiology	27235	COQ2	OMIM:146500
HP:0012332	Abnormal autonomic nervous system physiology	27235	COQ2	ORPHA:98933
HP:0012332	Abnormal autonomic nervous system physiology	23345	SYNE1	OMIM:610743
HP:0012332	Abnormal autonomic nervous system physiology	493856	CISD2	ORPHA:3463
HP:0012332	Abnormal autonomic nervous system physiology	7466	WFS1	ORPHA:3463
HP:0012332	Abnormal autonomic nervous system physiology	2670	GFAP	ORPHA:363722
HP:0012332	Abnormal autonomic nervous system physiology	7276	TTR	ORPHA:85447
HP:0012332	Abnormal autonomic nervous system physiology	7276	TTR	ORPHA:85451
HP:0012332	Abnormal autonomic nervous system physiology	7276	TTR	OMIM:105210
HP:0012332	Abnormal autonomic nervous system physiology	25828	TXN2	ORPHA:478029
HP:0012332	Abnormal autonomic nervous system physiology	9568	GABBR2	OMIM:617903
HP:0012332	Abnormal autonomic nervous system physiology	11152	WDR45	ORPHA:329284
HP:0012332	Abnormal autonomic nervous system physiology	11152	WDR45	OMIM:300894
HP:0012332	Abnormal autonomic nervous system physiology	5979	RET	ORPHA:99803
HP:0012332	Abnormal autonomic nervous system physiology	429	ASCL1	ORPHA:99803
HP:0012332	Abnormal autonomic nervous system physiology	6663	SOX10	OMIM:609136
HP:0012332	Abnormal autonomic nervous system physiology	6663	SOX10	ORPHA:163746
HP:0012332	Abnormal autonomic nervous system physiology	4204	MECP2	ORPHA:778
HP:0012332	Abnormal autonomic nervous system physiology	801	CALM1	ORPHA:101016
HP:0012332	Abnormal autonomic nervous system physiology	3753	KCNE1	ORPHA:101016
HP:0012332	Abnormal autonomic nervous system physiology	3762	KCNJ5	ORPHA:101016
HP:0012332	Abnormal autonomic nervous system physiology	805	CALM2	ORPHA:101016
HP:0012332	Abnormal autonomic nervous system physiology	6910	TBX5	ORPHA:101016
HP:0012332	Abnormal autonomic nervous system physiology	6336	SCN10A	ORPHA:101016
HP:0012332	Abnormal autonomic nervous system physiology	3757	KCNH2	ORPHA:101016
HP:0012332	Abnormal autonomic nervous system physiology	9992	KCNE2	ORPHA:101016
HP:0012332	Abnormal autonomic nervous system physiology	10142	AKAP9	ORPHA:101016
HP:0012332	Abnormal autonomic nervous system physiology	9722	NOS1AP	ORPHA:101016
HP:0012332	Abnormal autonomic nervous system physiology	775	CACNA1C	ORPHA:101016
HP:0012332	Abnormal autonomic nervous system physiology	3784	KCNQ1	ORPHA:101016
HP:0012332	Abnormal autonomic nervous system physiology	10345	TRDN	ORPHA:101016
HP:0012332	Abnormal autonomic nervous system physiology	6331	SCN5A	ORPHA:101016
HP:0012332	Abnormal autonomic nervous system physiology	6330	SCN4B	ORPHA:101016
HP:0012332	Abnormal autonomic nervous system physiology	808	CALM3	ORPHA:101016
HP:0012332	Abnormal autonomic nervous system physiology	6640	SNTA1	ORPHA:101016
HP:0012332	Abnormal autonomic nervous system physiology	859	CAV3	ORPHA:101016
HP:0012332	Abnormal autonomic nervous system physiology	287	ANK2	ORPHA:101016
HP:0012332	Abnormal autonomic nervous system physiology	7259	TSPYL1	ORPHA:168593
HP:0012332	Abnormal autonomic nervous system physiology	51	ACOX1	OMIM:618960
HP:0012332	Abnormal autonomic nervous system physiology	6571	SLC18A2	OMIM:618049
HP:0012332	Abnormal autonomic nervous system physiology	2717	GLA	OMIM:301500
HP:0012332	Abnormal autonomic nervous system physiology	3977	LIFR	ORPHA:3206
HP:0012332	Abnormal autonomic nervous system physiology	3977	LIFR	OMIM:601559
HP:0012332	Abnormal autonomic nervous system physiology	1889	ECE1	OMIM:613870
HP:0012332	Abnormal autonomic nervous system physiology	10381	TUBB3	ORPHA:300570
HP:0012332	Abnormal autonomic nervous system physiology	8398	PLA2G6	ORPHA:35069
HP:0012332	Abnormal autonomic nervous system physiology	2332	FMR1	ORPHA:93256
HP:0012332	Abnormal autonomic nervous system physiology	8086	AAAS	OMIM:231550
HP:0012332	Abnormal autonomic nervous system physiology	5649	RELN	ORPHA:101046
HP:0012332	Abnormal autonomic nervous system physiology	9211	LGI1	ORPHA:101046
HP:0012332	Abnormal autonomic nervous system physiology	9681	DEPDC5	ORPHA:101046
HP:0012332	Abnormal autonomic nervous system physiology	25793	FBXO7	ORPHA:171695
HP:0012332	Abnormal autonomic nervous system physiology	5981	RFC1	OMIM:614575
HP:0012332	Abnormal autonomic nervous system physiology	221927	BRAT1	OMIM:614498
HP:0012332	Abnormal autonomic nervous system physiology	23230	VPS13A	ORPHA:2388
HP:0012332	Abnormal autonomic nervous system physiology	4914	NTRK1	OMIM:256800
HP:0012332	Abnormal autonomic nervous system physiology	2065	ERBB3	OMIM:243180
HP:0012332	Abnormal autonomic nervous system physiology	11315	PARK7	ORPHA:2828
HP:0012332	Abnormal autonomic nervous system physiology	7345	UCHL1	ORPHA:2828
HP:0012332	Abnormal autonomic nervous system physiology	27429	HTRA2	ORPHA:2828
HP:0012332	Abnormal autonomic nervous system physiology	120892	LRRK2	ORPHA:2828
HP:0012332	Abnormal autonomic nervous system physiology	9829	DNAJC6	ORPHA:2828
HP:0012332	Abnormal autonomic nervous system physiology	5420	PODXL	ORPHA:2828
HP:0012332	Abnormal autonomic nervous system physiology	65018	PINK1	ORPHA:2828
HP:0012332	Abnormal autonomic nervous system physiology	8867	SYNJ1	ORPHA:2828
HP:0012332	Abnormal autonomic nervous system physiology	5071	PRKN	ORPHA:2828
HP:0012332	Abnormal autonomic nervous system physiology	2629	GBA1	OMIM:168600
HP:0012332	Abnormal autonomic nervous system physiology	126	ADH1C	OMIM:168600
HP:0012332	Abnormal autonomic nervous system physiology	4137	MAPT	OMIM:168600
HP:0012332	Abnormal autonomic nervous system physiology	4576	MT-TT	OMIM:168600
HP:0012332	Abnormal autonomic nervous system physiology	9627	SNCAIP	OMIM:168600
HP:0012332	Abnormal autonomic nervous system physiology	6908	TBP	OMIM:168600
HP:0012332	Abnormal autonomic nervous system physiology	4929	NR4A2	OMIM:168600
HP:0012332	Abnormal autonomic nervous system physiology	6311	ATXN2	OMIM:168600
HP:0012332	Abnormal autonomic nervous system physiology	6315	ATXN8OS	OMIM:168600
HP:0012332	Abnormal autonomic nervous system physiology	5498	PPOX	ORPHA:79473
HP:0012332	Abnormal autonomic nervous system physiology	78987	CRELD1	OMIM:620771
HP:0012332	Abnormal autonomic nervous system physiology	4001	LMNB1	ORPHA:99027
HP:0012332	Abnormal autonomic nervous system physiology	567	B2M	ORPHA:314652
HP:0020035	Lower limb dysmetria	4763	NF1	ORPHA:363700
HP:0020036	Upper limb dysmetria	57704	GBA2	OMIM:614409
HP:0020037	Astasia	55768	NGLY1	ORPHA:404454
HP:0020038	Vertebrobasilar dolichoectasia	92949	ADAMTSL1	ORPHA:521445
HP:0031739	Abnormal oblique muscle physiology	7543	ZFX	OMIM:301118
HP:0031739	Abnormal oblique muscle physiology	2200	FBN1	OMIM:154700
HP:0002460	Distal muscle weakness	7072	TIA1	OMIM:604454
HP:0002460	Distal muscle weakness	1410	CRYAB	OMIM:608810
HP:0002460	Distal muscle weakness	5376	PMP22	OMIM:118300
HP:0002460	Distal muscle weakness	5376	PMP22	OMIM:180800
HP:0002460	Distal muscle weakness	5376	PMP22	ORPHA:101081
HP:0002460	Distal muscle weakness	5376	PMP22	OMIM:118220
HP:0002460	Distal muscle weakness	5376	PMP22	OMIM:145900
HP:0002460	Distal muscle weakness	22880	MORC2	OMIM:616688
HP:0002460	Distal muscle weakness	22880	MORC2	ORPHA:466768
HP:0002460	Distal muscle weakness	9782	MATR3	OMIM:606070
HP:0002460	Distal muscle weakness	9782	MATR3	ORPHA:600
HP:0002460	Distal muscle weakness	8291	DYSF	OMIM:254130
HP:0002460	Distal muscle weakness	50717	DCAF8	OMIM:610100
HP:0002460	Distal muscle weakness	4747	NEFL	ORPHA:99939
HP:0002460	Distal muscle weakness	4747	NEFL	ORPHA:101085
HP:0002460	Distal muscle weakness	4747	NEFL	OMIM:607684
HP:0002460	Distal muscle weakness	4747	NEFL	OMIM:607734
HP:0002460	Distal muscle weakness	4747	NEFL	OMIM:617882
HP:0002460	Distal muscle weakness	2521	FUS	ORPHA:275872
HP:0002460	Distal muscle weakness	2521	FUS	ORPHA:300605
HP:0002460	Distal muscle weakness	8878	SQSTM1	ORPHA:275872
HP:0002460	Distal muscle weakness	7415	VCP	ORPHA:275872
HP:0002460	Distal muscle weakness	7415	VCP	ORPHA:52430
HP:0002460	Distal muscle weakness	7415	VCP	ORPHA:329478
HP:0002460	Distal muscle weakness	7415	VCP	ORPHA:435387
HP:0002460	Distal muscle weakness	23435	TARDBP	ORPHA:275872
HP:0002460	Distal muscle weakness	29110	TBK1	ORPHA:275872
HP:0002460	Distal muscle weakness	400916	CHCHD10	ORPHA:275872
HP:0002460	Distal muscle weakness	4359	MPZ	OMIM:180800
HP:0002460	Distal muscle weakness	4359	MPZ	OMIM:118200
HP:0002460	Distal muscle weakness	4359	MPZ	OMIM:145900
HP:0002460	Distal muscle weakness	4359	MPZ	OMIM:607677
HP:0002460	Distal muscle weakness	4359	MPZ	OMIM:607791
HP:0002460	Distal muscle weakness	4359	MPZ	OMIM:607736
HP:0002460	Distal muscle weakness	4625	MYH7	ORPHA:59135
HP:0002460	Distal muscle weakness	4625	MYH7	OMIM:160500
HP:0002460	Distal muscle weakness	9499	MYOT	ORPHA:266
HP:0002460	Distal muscle weakness	7879	RAB7A	OMIM:600882
HP:0002460	Distal muscle weakness	2617	GARS1	OMIM:619042
HP:0002460	Distal muscle weakness	2617	GARS1	OMIM:601472
HP:0002460	Distal muscle weakness	2617	GARS1	OMIM:600794
HP:0002460	Distal muscle weakness	3074	HEXB	ORPHA:309162
HP:0002460	Distal muscle weakness	10743	RAI1	ORPHA:477817
HP:0002460	Distal muscle weakness	54332	GDAP1	OMIM:607831
HP:0002460	Distal muscle weakness	54332	GDAP1	OMIM:607706
HP:0002460	Distal muscle weakness	54332	GDAP1	ORPHA:99948
HP:0002460	Distal muscle weakness	54332	GDAP1	ORPHA:99944
HP:0002460	Distal muscle weakness	54332	GDAP1	OMIM:214400
HP:0002460	Distal muscle weakness	56704	JPH1	OMIM:607831
HP:0002460	Distal muscle weakness	538	ATP7A	OMIM:300489
HP:0002460	Distal muscle weakness	7273	TTN	OMIM:608807
HP:0002460	Distal muscle weakness	7273	TTN	ORPHA:178464
HP:0002460	Distal muscle weakness	101060691	NUTM2B-AS1	OMIM:618637
HP:0002460	Distal muscle weakness	10908	PNPLA6	OMIM:275400
HP:0002460	Distal muscle weakness	3508	IGHMBP2	OMIM:604320
HP:0002460	Distal muscle weakness	81846	SBF2	OMIM:604563
HP:0002460	Distal muscle weakness	29925	GMPPB	ORPHA:353327
HP:0002460	Distal muscle weakness	2673	GFPT1	ORPHA:353327
HP:0002460	Distal muscle weakness	1798	DPAGT1	ORPHA:353327
HP:0002460	Distal muscle weakness	85365	ALG2	ORPHA:353327
HP:0002460	Distal muscle weakness	199857	ALG14	ORPHA:353327
HP:0002460	Distal muscle weakness	5428	POLG	ORPHA:298
HP:0002460	Distal muscle weakness	5428	POLG	OMIM:607459
HP:0002460	Distal muscle weakness	5428	POLG	OMIM:258450
HP:0002460	Distal muscle weakness	5428	POLG	OMIM:603041
HP:0002460	Distal muscle weakness	1890	TYMP	ORPHA:298
HP:0002460	Distal muscle weakness	1890	TYMP	OMIM:603041
HP:0002460	Distal muscle weakness	3980	LIG3	ORPHA:298
HP:0002460	Distal muscle weakness	50484	RRM2B	ORPHA:298
HP:0002460	Distal muscle weakness	60482	SLC5A7	OMIM:158580
HP:0002460	Distal muscle weakness	729359	PLIN4	OMIM:601846
HP:0002460	Distal muscle weakness	2892	GRIA3	OMIM:300699
HP:0002460	Distal muscle weakness	2892	GRIA3	ORPHA:364028
HP:0002460	Distal muscle weakness	4358	MPV17	OMIM:618400
HP:0002460	Distal muscle weakness	4358	MPV17	OMIM:256810
HP:0002460	Distal muscle weakness	57449	PLEKHG5	OMIM:615376
HP:0002460	Distal muscle weakness	57449	PLEKHG5	OMIM:611067
HP:0002460	Distal muscle weakness	274	BIN1	OMIM:255200
HP:0002460	Distal muscle weakness	1292	COL6A2	OMIM:620725
HP:0002460	Distal muscle weakness	1292	COL6A2	OMIM:255600
HP:0002460	Distal muscle weakness	1292	COL6A2	ORPHA:610
HP:0002460	Distal muscle weakness	55157	DARS2	ORPHA:137898
HP:0002460	Distal muscle weakness	4604	MYBPC1	OMIM:618524
HP:0002460	Distal muscle weakness	7920	ABHD16A	OMIM:619735
HP:0002460	Distal muscle weakness	29967	LRP12	OMIM:164310
HP:0002460	Distal muscle weakness	10939	AFG3L2	ORPHA:313772
HP:0002460	Distal muscle weakness	5832	ALDH18A1	OMIM:601162
HP:0002460	Distal muscle weakness	4620	MYH2	OMIM:605637
HP:0002460	Distal muscle weakness	51651	PTRH2	ORPHA:456312
HP:0002460	Distal muscle weakness	51651	PTRH2	OMIM:616263
HP:0002460	Distal muscle weakness	88	ACTN2	OMIM:618654
HP:0002460	Distal muscle weakness	88	ACTN2	OMIM:618655
HP:0002460	Distal muscle weakness	83636	C19orf12	OMIM:614298
HP:0002460	Distal muscle weakness	9517	SPTLC2	OMIM:613640
HP:0002460	Distal muscle weakness	9517	SPTLC2	ORPHA:36386
HP:0002460	Distal muscle weakness	65998	ZFTA	ORPHA:251636
HP:0002460	Distal muscle weakness	23230	VPS13A	ORPHA:2388
HP:0002460	Distal muscle weakness	9896	FIG4	OMIM:611228
HP:0002460	Distal muscle weakness	9927	MFN2	OMIM:601152
HP:0002460	Distal muscle weakness	9927	MFN2	OMIM:609260
HP:0002460	Distal muscle weakness	10558	SPTLC1	ORPHA:36386
HP:0002460	Distal muscle weakness	10558	SPTLC1	ORPHA:300605
HP:0002460	Distal muscle weakness	10558	SPTLC1	OMIM:162400
HP:0002460	Distal muscle weakness	25923	ATL3	ORPHA:36386
HP:0002460	Distal muscle weakness	51062	ATL1	ORPHA:36386
HP:0002460	Distal muscle weakness	59341	TRPV4	OMIM:600175
HP:0002460	Distal muscle weakness	23299	BICD2	ORPHA:363454
HP:0002460	Distal muscle weakness	9131	AIFM1	ORPHA:101078
HP:0002460	Distal muscle weakness	5255	PHKA1	OMIM:300559
HP:0002460	Distal muscle weakness	60481	ELOVL5	OMIM:615957
HP:0002460	Distal muscle weakness	60481	ELOVL5	ORPHA:423296
HP:0002460	Distal muscle weakness	8898	MTMR2	OMIM:601382
HP:0002460	Distal muscle weakness	80208	SPG11	ORPHA:300605
HP:0002460	Distal muscle weakness	80208	SPG11	OMIM:602099
HP:0002460	Distal muscle weakness	10280	SIGMAR1	ORPHA:300605
HP:0002460	Distal muscle weakness	10280	SIGMAR1	OMIM:605726
HP:0002460	Distal muscle weakness	57679	ALS2	ORPHA:300605
HP:0002460	Distal muscle weakness	57679	ALS2	OMIM:205100
HP:0002460	Distal muscle weakness	64419	MTMR14	OMIM:160150
HP:0002460	Distal muscle weakness	1785	DNM2	OMIM:160150
HP:0002460	Distal muscle weakness	1785	DNM2	OMIM:606482
HP:0002460	Distal muscle weakness	23095	KIF1B	OMIM:118210
HP:0002460	Distal muscle weakness	11261	CHP1	OMIM:618438
HP:0002460	Distal muscle weakness	5191	PEX7	OMIM:614879
HP:0002460	Distal muscle weakness	8106	PABPN1	OMIM:164300
HP:0002460	Distal muscle weakness	8565	YARS1	OMIM:608323
HP:0002460	Distal muscle weakness	19	ABCA1	ORPHA:31150
HP:0002460	Distal muscle weakness	3178	HNRNPA1	ORPHA:52430
HP:0002460	Distal muscle weakness	3178	HNRNPA1	OMIM:610099
HP:0002460	Distal muscle weakness	3181	HNRNPA2B1	ORPHA:52430
HP:0002460	Distal muscle weakness	5981	RFC1	ORPHA:504476
HP:0002460	Distal muscle weakness	3300	DNAJB2	OMIM:614881
HP:0002460	Distal muscle weakness	6709	SPTAN1	OMIM:620528
HP:0002460	Distal muscle weakness	7317	UBA1	ORPHA:1145
HP:0002460	Distal muscle weakness	26353	HSPB8	OMIM:608673
HP:0002460	Distal muscle weakness	26353	HSPB8	OMIM:158590
HP:0002460	Distal muscle weakness	23479	ISCU	OMIM:255125
HP:0002460	Distal muscle weakness	3098	HK1	OMIM:605285
HP:0002460	Distal muscle weakness	79628	SH3TC2	OMIM:601596
HP:0002460	Distal muscle weakness	79628	SH3TC2	ORPHA:99949
HP:0002460	Distal muscle weakness	10397	NDRG1	ORPHA:99950
HP:0002460	Distal muscle weakness	10397	NDRG1	OMIM:601455
HP:0002460	Distal muscle weakness	9217	VAPB	OMIM:182980
HP:0002460	Distal muscle weakness	9217	VAPB	OMIM:608627
HP:0002460	Distal muscle weakness	56652	TWNK	OMIM:607459
HP:0002460	Distal muscle weakness	57716	PRX	OMIM:614895
HP:0002460	Distal muscle weakness	57716	PRX	OMIM:145900
HP:0002460	Distal muscle weakness	4000	LMNA	OMIM:613205
HP:0002460	Distal muscle weakness	4000	LMNA	ORPHA:98856
HP:0002460	Distal muscle weakness	4000	LMNA	OMIM:605588
HP:0002460	Distal muscle weakness	57410	SCYL1	OMIM:616719
HP:0002460	Distal muscle weakness	23534	TNPO3	OMIM:608423
HP:0002460	Distal muscle weakness	23064	SETX	OMIM:606002
HP:0002460	Distal muscle weakness	23064	SETX	OMIM:602433
HP:0002460	Distal muscle weakness	23064	SETX	ORPHA:357043
HP:0002460	Distal muscle weakness	1959	EGR2	OMIM:145900
HP:0002460	Distal muscle weakness	1959	EGR2	OMIM:607678
HP:0002460	Distal muscle weakness	1959	EGR2	OMIM:605253
HP:0002460	Distal muscle weakness	389827	MYMK	OMIM:254940
HP:0002460	Distal muscle weakness	6310	ATXN1	OMIM:164400
HP:0002460	Distal muscle weakness	8729	GBF1	OMIM:606483
HP:0002460	Distal muscle weakness	58	ACTA1	ORPHA:97240
HP:0002460	Distal muscle weakness	353116	RILPL1	OMIM:619790
HP:0002460	Distal muscle weakness	55906	ZC4H2	OMIM:301041
HP:0002460	Distal muscle weakness	4141	MARS1	OMIM:616280
HP:0002460	Distal muscle weakness	10020	GNE	OMIM:605820
HP:0002460	Distal muscle weakness	127833	SYT2	OMIM:616040
HP:0002460	Distal muscle weakness	1305	COL13A1	OMIM:616720
HP:0002460	Distal muscle weakness	7443	VRK1	OMIM:620542
HP:0002460	Distal muscle weakness	3315	HSPB1	OMIM:606595
HP:0002460	Distal muscle weakness	10516	FBLN5	OMIM:608895
HP:0002460	Distal muscle weakness	11160	ERLIN2	ORPHA:209951
HP:0002460	Distal muscle weakness	55187	VPS13D	OMIM:607317
HP:0002460	Distal muscle weakness	90678	LRSAM1	OMIM:614436
HP:0002460	Distal muscle weakness	7084	TK2	ORPHA:254875
HP:0002460	Distal muscle weakness	8888	MCM3AP	OMIM:618124
HP:0002460	Distal muscle weakness	5631	PRPS1	OMIM:311070
HP:0002460	Distal muscle weakness	182	JAG1	OMIM:619574
HP:0002460	Distal muscle weakness	3035	HARS1	OMIM:616625
HP:0002460	Distal muscle weakness	2705	GJB1	OMIM:302800
HP:0002460	Distal muscle weakness	2992	GYG1	OMIM:616199
HP:0002460	Distal muscle weakness	64423	INF2	OMIM:614455
HP:0002460	Distal muscle weakness	89874	SLC25A21	OMIM:618811
HP:0002460	Distal muscle weakness	9531	BAG3	OMIM:612954
HP:0002460	Distal muscle weakness	28982	FLVCR1	OMIM:609033
HP:0002460	Distal muscle weakness	11284	PNKP	OMIM:605589
HP:0002460	Distal muscle weakness	81857	MED25	OMIM:605589
HP:0002460	Distal muscle weakness	65260	COA7	OMIM:618387
HP:0002460	Distal muscle weakness	10755	GIPC1	OMIM:618940
HP:0002460	Distal muscle weakness	1778	DYNC1H1	OMIM:614228
HP:0002460	Distal muscle weakness	1639	DCTN1	OMIM:607641
HP:0002460	Distal muscle weakness	4287	ATXN3	ORPHA:276244
HP:0002460	Distal muscle weakness	476	ATP1A1	OMIM:618036
HP:0002460	Distal muscle weakness	5375	PMP2	OMIM:618279
HP:0002460	Distal muscle weakness	1674	DES	OMIM:601419
HP:0002460	Distal muscle weakness	8292	COLQ	ORPHA:98915
HP:0002460	Distal muscle weakness	3913	LAMB2	ORPHA:98915
HP:0002460	Distal muscle weakness	1786	DNMT1	OMIM:614116
HP:0002460	Distal muscle weakness	54676	GTPBP2	OMIM:617988
HP:0002460	Distal muscle weakness	84033	OBSCN	OMIM:620235
HP:0002460	Distal muscle weakness	93587	TRMT10A	ORPHA:391408
HP:0002460	Distal muscle weakness	84919	PPP1R15B	ORPHA:391408
HP:0002460	Distal muscle weakness	6663	SOX10	OMIM:609136
HP:0002460	Distal muscle weakness	3710	ITPR3	OMIM:620111
HP:0002460	Distal muscle weakness	9516	LITAF	OMIM:601098
HP:0002460	Distal muscle weakness	1303	COL12A1	ORPHA:610
HP:0002460	Distal muscle weakness	1291	COL6A1	ORPHA:610
HP:0002460	Distal muscle weakness	1291	COL6A1	OMIM:158810
HP:0002460	Distal muscle weakness	1293	COL6A3	ORPHA:610
HP:0002460	Distal muscle weakness	26278	SACS	OMIM:270550
HP:0002460	Distal muscle weakness	26092	TOR1AIP1	OMIM:617072
HP:0002460	Distal muscle weakness	1716	DGUOK	OMIM:617070
HP:0002460	Distal muscle weakness	3920	LAMP2	OMIM:300257
HP:0002460	Distal muscle weakness	7515	XRCC1	OMIM:617633
HP:0002460	Distal muscle weakness	60386	SLC25A19	OMIM:613710
HP:0002460	Distal muscle weakness	283	ANG	OMIM:611895
HP:0002460	Distal muscle weakness	79784	MYH14	OMIM:614369
HP:0002460	Distal muscle weakness	57731	SPTBN4	OMIM:617519
HP:0002460	Distal muscle weakness	8139	GAN	ORPHA:643
HP:0002460	Distal muscle weakness	8139	GAN	OMIM:256850
HP:0002460	Distal muscle weakness	26580	BSCL2	OMIM:270685
HP:0002460	Distal muscle weakness	4668	NAGA	OMIM:609242
HP:0002460	Distal muscle weakness	51776	MAP3K20	OMIM:617760
HP:0002460	Distal muscle weakness	16	AARS1	OMIM:613287
HP:0002460	Distal muscle weakness	1371	CPOX	ORPHA:79273
HP:0002460	Distal muscle weakness	3145	HMBS	ORPHA:79276
HP:0002460	Distal muscle weakness	65055	REEP1	OMIM:620011
HP:0002460	Distal muscle weakness	50846	DHH	ORPHA:168563
HP:0002460	Distal muscle weakness	2643	GCH1	ORPHA:98808
HP:0002460	Distal muscle weakness	4929	NR4A2	ORPHA:98808
HP:0002460	Distal muscle weakness	3615	IMPDH2	ORPHA:98808
HP:0002460	Distal muscle weakness	773	CACNA1A	ORPHA:569
HP:0002460	Distal muscle weakness	112476	PRRT2	ORPHA:569
HP:0002460	Distal muscle weakness	6323	SCN1A	ORPHA:569
HP:0002460	Distal muscle weakness	477	ATP1A2	ORPHA:569
HP:0002460	Distal muscle weakness	4703	NEB	OMIM:256030
HP:0002460	Distal muscle weakness	7143	TNR	OMIM:619653
HP:0002460	Distal muscle weakness	122622	ADSS1	OMIM:617030
HP:0002460	Distal muscle weakness	122622	ADSS1	ORPHA:482601
HP:0002460	Distal muscle weakness	23259	DDHD2	OMIM:615033
HP:0002460	Distal muscle weakness	8988	HSPB3	OMIM:613376
HP:0002460	Distal muscle weakness	57863	CADM3	OMIM:619519
HP:0002460	Distal muscle weakness	2318	FLNC	ORPHA:63273
HP:0002460	Distal muscle weakness	64856	VWA1	OMIM:619216
HP:0002460	Distal muscle weakness	10229	COQ7	OMIM:620402
HP:0002460	Distal muscle weakness	203859	ANO5	OMIM:613319
HP:0002460	Distal muscle weakness	22947	DUX4L1	ORPHA:269
HP:0002460	Distal muscle weakness	1789	DNMT3B	ORPHA:269
HP:0002460	Distal muscle weakness	2483	FRG1	ORPHA:269
HP:0002460	Distal muscle weakness	23347	SMCHD1	ORPHA:269
HP:0002460	Distal muscle weakness	100288687	DUX4	ORPHA:269
HP:0002460	Distal muscle weakness	4311	MME	ORPHA:497764
HP:0002460	Distal muscle weakness	23676	SMPX	OMIM:301075
HP:0002460	Distal muscle weakness	59345	GNB4	OMIM:615185
HP:0002460	Distal muscle weakness	6261	RYR1	ORPHA:178145
HP:0002460	Distal muscle weakness	3714	JAG2	OMIM:619566
HP:0002460	Distal muscle weakness	6652	SORD	OMIM:618912
HP:0002460	Distal muscle weakness	7453	WARS1	OMIM:617721
HP:0002460	Distal muscle weakness	90523	MLIP	OMIM:620138
HP:0002460	Distal muscle weakness	10073	SNUPN	OMIM:620793
HP:0002460	Distal muscle weakness	100996717	NOTCH2NLC	ORPHA:98897
HP:0002460	Distal muscle weakness	91574	MTRFR	ORPHA:320375
HP:0002460	Distal muscle weakness	2137	EXTL3	ORPHA:508533
HP:0002460	Distal muscle weakness	3094	HINT1	ORPHA:324442
HP:0002460	Distal muscle weakness	4137	MAPT	ORPHA:240094
HP:0002460	Distal muscle weakness	4508	MT-ATP6	ORPHA:320360
HP:0002460	Distal muscle weakness	55775	TDP1	ORPHA:94124
HP:0002460	Distal muscle weakness	5339	PLEC	ORPHA:254361
HP:0002460	Distal muscle weakness	200205	IBA57	ORPHA:468661
HP:0002460	Distal muscle weakness	79048	SECISBP2	ORPHA:171706
HP:0002460	Distal muscle weakness	215	ABCD1	ORPHA:139399
HP:0002460	Distal muscle weakness	7170	TPM3	OMIM:609284
HP:0002460	Distal muscle weakness	4547	MTTP	ORPHA:14
HP:0002460	Distal muscle weakness	8557	TCAP	OMIM:601954
HP:0002460	Distal muscle weakness	547	KIF1A	OMIM:614213
HP:0002460	Distal muscle weakness	8884	SLC5A6	OMIM:619903
HP:0002460	Distal muscle weakness	55526	DHTKD1	OMIM:615025
HP:0002460	Distal muscle weakness	121512	FGD4	OMIM:609311
HP:0002460	Distal muscle weakness	9990	SLC12A6	OMIM:620068
HP:0002460	Distal muscle weakness	6305	SBF1	OMIM:615284
HP:0002460	Distal muscle weakness	4649	MYO9A	ORPHA:98914
HP:0002460	Distal muscle weakness	1103	CHAT	ORPHA:98914
HP:0002460	Distal muscle weakness	6576	SLC25A1	ORPHA:98914
HP:0002460	Distal muscle weakness	6843	VAMP1	ORPHA:98914
HP:0002460	Distal muscle weakness	375790	AGRN	ORPHA:98914
HP:0002460	Distal muscle weakness	6572	SLC18A3	ORPHA:98914
HP:0002460	Distal muscle weakness	6616	SNAP25	ORPHA:98914
HP:0002460	Distal muscle weakness	7428	VHL	ORPHA:892
HP:0002460	Distal muscle weakness	595	CCND1	ORPHA:892
HP:0002460	Distal muscle weakness	11117	EMILIN1	OMIM:620080
HP:0002460	Distal muscle weakness	126129	CPT1C	ORPHA:444099
HP:0002460	Distal muscle weakness	55958	KLHL9	ORPHA:399081
HP:0002460	Distal muscle weakness	57104	PNPLA2	ORPHA:98908
HP:0002460	Distal muscle weakness	859	CAV3	ORPHA:488650
HP:0002460	Distal muscle weakness	3032	HADHB	ORPHA:746
HP:0002460	Distal muscle weakness	3030	HADHA	ORPHA:746
HP:0002460	Distal muscle weakness	1180	CLCN1	ORPHA:614
HP:0002460	Distal muscle weakness	11155	LDB3	OMIM:609452
HP:0002460	Distal muscle weakness	1757	SARDH	ORPHA:3129
HP:0002460	Distal muscle weakness	2218	FKTN	OMIM:611588
HP:0002461	Cerebellar dentate nucleus calcification	1161	ERCC8	ORPHA:90324
HP:0002461	Cerebellar dentate nucleus calcification	2074	ERCC6	ORPHA:90324
HP:0002461	Cerebellar dentate nucleus calcification	727676	SNORD118	ORPHA:542310
HP:0002461	Cerebellar dentate nucleus calcification	6575	SLC20A2	OMIM:213600
HP:0002461	Cerebellar dentate nucleus calcification	5159	PDGFRB	OMIM:213600
HP:0002461	Cerebellar dentate nucleus calcification	5155	PDGFB	OMIM:213600
HP:0002461	Cerebellar dentate nucleus calcification	57462	MYORG	OMIM:618317
HP:0002283	Global brain atrophy	435	ASL	ORPHA:23
HP:0002283	Global brain atrophy	5621	PRNP	ORPHA:282166
HP:0002283	Global brain atrophy	5621	PRNP	OMIM:603218
HP:0002283	Global brain atrophy	1798	DPAGT1	ORPHA:86309
HP:0002283	Global brain atrophy	26235	FBXL4	OMIM:615471
HP:0002283	Global brain atrophy	7737	RNF113A	OMIM:300953
HP:0002283	Global brain atrophy	51604	PIGT	ORPHA:369837
HP:0002283	Global brain atrophy	56006	SMG9	OMIM:616920
HP:0002283	Global brain atrophy	124997	WDR81	OMIM:610185
HP:0002283	Global brain atrophy	1593	CYP27A1	ORPHA:909
HP:0002283	Global brain atrophy	25782	RAB3GAP2	OMIM:614225
HP:0002283	Global brain atrophy	9255	AIMP1	OMIM:260600
HP:0002283	Global brain atrophy	85476	GFM1	OMIM:609060
HP:0002283	Global brain atrophy	285175	UNC80	OMIM:616801
HP:0002283	Global brain atrophy	8021	NUP214	OMIM:618426
HP:0002283	Global brain atrophy	90624	LYRM7	OMIM:615838
HP:0002283	Global brain atrophy	11267	SNF8	OMIM:620784
HP:0002283	Global brain atrophy	11267	SNF8	OMIM:620783
HP:0002283	Global brain atrophy	55775	TDP1	ORPHA:94124
HP:0002283	Global brain atrophy	79796	ALG9	OMIM:608776
HP:0002283	Global brain atrophy	2521	FUS	ORPHA:275872
HP:0002283	Global brain atrophy	8878	SQSTM1	ORPHA:275872
HP:0002283	Global brain atrophy	7415	VCP	ORPHA:275872
HP:0002283	Global brain atrophy	23435	TARDBP	ORPHA:275872
HP:0002283	Global brain atrophy	29110	TBK1	ORPHA:275872
HP:0002283	Global brain atrophy	400916	CHCHD10	ORPHA:275872
HP:0002283	Global brain atrophy	6335	SCN9A	ORPHA:33069
HP:0002283	Global brain atrophy	6326	SCN2A	ORPHA:33069
HP:0002283	Global brain atrophy	6326	SCN2A	OMIM:613721
HP:0002283	Global brain atrophy	2554	GABRA1	ORPHA:33069
HP:0002283	Global brain atrophy	6323	SCN1A	ORPHA:33069
HP:0002283	Global brain atrophy	6324	SCN1B	ORPHA:33069
HP:0002283	Global brain atrophy	57526	PCDH19	ORPHA:33069
HP:0002283	Global brain atrophy	2566	GABRG2	ORPHA:33069
HP:0002283	Global brain atrophy	1528	CYB5A	ORPHA:621
HP:0002283	Global brain atrophy	1727	CYB5R3	ORPHA:621
HP:0002283	Global brain atrophy	170302	ARX	OMIM:308350
HP:0002283	Global brain atrophy	83475	DOHH	OMIM:620066
HP:0002283	Global brain atrophy	80025	PANK2	OMIM:234200
HP:0002283	Global brain atrophy	55593	OTUD5	OMIM:301056
HP:0002283	Global brain atrophy	51412	ACTL6B	OMIM:618470
HP:0002283	Global brain atrophy	128240	NAXE	OMIM:617186
HP:0002283	Global brain atrophy	25828	TXN2	ORPHA:478029
HP:0002283	Global brain atrophy	25828	TXN2	OMIM:616811
HP:0002283	Global brain atrophy	23287	AGTPBP1	OMIM:618276
HP:0002283	Global brain atrophy	790	CAD	OMIM:616457
HP:0002283	Global brain atrophy	2782	GNB1	OMIM:616973
HP:0002283	Global brain atrophy	55163	PNPO	ORPHA:79096
HP:0002283	Global brain atrophy	5660	PSAP	OMIM:611722
HP:0002283	Global brain atrophy	79944	L2HGDH	OMIM:236792
HP:0002283	Global brain atrophy	8869	ST3GAL5	OMIM:609056
HP:0002283	Global brain atrophy	1436	CSF1R	OMIM:221820
HP:0002283	Global brain atrophy	79868	ALG13	ORPHA:324422
HP:0002283	Global brain atrophy	5354	PLP1	OMIM:312080
HP:0002283	Global brain atrophy	440	ASNS	OMIM:615574
HP:0002283	Global brain atrophy	6651	SON	ORPHA:500150
HP:0002283	Global brain atrophy	1540	CYLD	OMIM:619132
HP:0002283	Global brain atrophy	215	ABCD1	ORPHA:139396
HP:0002283	Global brain atrophy	1315	COPB1	OMIM:619255
HP:0002283	Global brain atrophy	166378	AFG2A	ORPHA:457351
HP:0002283	Global brain atrophy	10352	WARS2	OMIM:619738
HP:0002283	Global brain atrophy	93627	TBCK	OMIM:616900
HP:0002283	Global brain atrophy	93627	TBCK	ORPHA:488632
HP:0002283	Global brain atrophy	29920	PYCR2	ORPHA:481152
HP:0002283	Global brain atrophy	2074	ERCC6	OMIM:278800
HP:0002283	Global brain atrophy	128989	TANGO2	ORPHA:480864
HP:0002283	Global brain atrophy	22827	PUF60	ORPHA:508488
HP:0002283	Global brain atrophy	1717	DHCR7	OMIM:270400
HP:0002283	Global brain atrophy	1678	TIMM8A	ORPHA:52368
HP:0002283	Global brain atrophy	8803	SUCLA2	OMIM:612073
HP:0002283	Global brain atrophy	79587	CARS2	OMIM:616672
HP:0002283	Global brain atrophy	7407	VARS1	OMIM:617802
HP:0002283	Global brain atrophy	8398	PLA2G6	OMIM:612953
HP:0002283	Global brain atrophy	6304	SATB1	OMIM:619229
HP:0002283	Global brain atrophy	27010	TPK1	OMIM:614458
HP:0002283	Global brain atrophy	10695	CNPY3	OMIM:617929
HP:0002283	Global brain atrophy	6622	SNCA	OMIM:168601
HP:0002283	Global brain atrophy	26834	RNU4-2	OMIM:620851
HP:0002463	Language impairment	23394	ADNP	ORPHA:404448
HP:0002463	Language impairment	55703	POLR3B	OMIM:614381
HP:0002463	Language impairment	55703	POLR3B	OMIM:619742
HP:0002463	Language impairment	51256	TBC1D7	OMIM:248000
HP:0002463	Language impairment	340533	NEXMIF	OMIM:300912
HP:0002463	Language impairment	340533	NEXMIF	ORPHA:1942
HP:0002463	Language impairment	23135	KDM6B	OMIM:618505
HP:0002463	Language impairment	6659	SOX4	OMIM:618506
HP:0002463	Language impairment	84334	COA8	ORPHA:436271
HP:0002463	Language impairment	84334	COA8	OMIM:619061
HP:0002463	Language impairment	81570	CLPB	OMIM:619835
HP:0002463	Language impairment	5457	POU4F1	ORPHA:314647
HP:0002463	Language impairment	23261	CAMTA1	ORPHA:314647
HP:0002463	Language impairment	23261	CAMTA1	OMIM:614756
HP:0002463	Language impairment	10159	ATP6AP2	ORPHA:93952
HP:0002463	Language impairment	10159	ATP6AP2	OMIM:300423
HP:0002463	Language impairment	55209	SETD5	ORPHA:404440
HP:0002463	Language impairment	55209	SETD5	OMIM:615761
HP:0002463	Language impairment	4125	MAN2B1	ORPHA:309282
HP:0002463	Language impairment	4125	MAN2B1	ORPHA:309288
HP:0002463	Language impairment	10743	RAI1	ORPHA:477817
HP:0002463	Language impairment	10743	RAI1	ORPHA:819
HP:0002463	Language impairment	10743	RAI1	OMIM:182290
HP:0002463	Language impairment	24137	KIF4A	OMIM:300923
HP:0002463	Language impairment	80816	ASXL3	OMIM:615485
HP:0002463	Language impairment	57589	RIC1	ORPHA:199306
HP:0002463	Language impairment	5818	NECTIN1	ORPHA:199306
HP:0002463	Language impairment	1739	DLG1	ORPHA:199306
HP:0002463	Language impairment	999	CDH1	ORPHA:199306
HP:0002463	Language impairment	5156	PDGFRA	ORPHA:199306
HP:0002463	Language impairment	3664	IRF6	ORPHA:199306
HP:0002463	Language impairment	1748	DLX4	ORPHA:199306
HP:0002463	Language impairment	4487	MSX1	ORPHA:199306
HP:0002463	Language impairment	652	BMP4	ORPHA:199306
HP:0002463	Language impairment	8626	TP63	ORPHA:199306
HP:0002463	Language impairment	22837	COBLL1	ORPHA:199306
HP:0002463	Language impairment	54848	ARHGEF38	ORPHA:199306
HP:0002463	Language impairment	9411	ARHGAP29	ORPHA:199306
HP:0002463	Language impairment	8942	KYNU	OMIM:617661
HP:0002463	Language impairment	283489	CHAMP1	OMIM:616579
HP:0002463	Language impairment	27245	AHDC1	ORPHA:412069
HP:0002463	Language impairment	27245	AHDC1	OMIM:615829
HP:0002463	Language impairment	5424	POLD1	OMIM:620836
HP:0002463	Language impairment	55690	PACS1	OMIM:615009
HP:0002463	Language impairment	55690	PACS1	ORPHA:329224
HP:0002463	Language impairment	55904	KMT2E	OMIM:618512
HP:0002463	Language impairment	318	NUDT2	OMIM:619844
HP:0002463	Language impairment	9968	MED12	ORPHA:2728
HP:0002463	Language impairment	9968	MED12	ORPHA:93932
HP:0002463	Language impairment	9968	MED12	OMIM:300895
HP:0002463	Language impairment	2132	EXT2	ORPHA:466926
HP:0002463	Language impairment	57082	KNL1	OMIM:604321
HP:0002463	Language impairment	55650	PIGV	OMIM:239300
HP:0002463	Language impairment	2192	FBLN1	ORPHA:404451
HP:0002463	Language impairment	2188	FANCF	OMIM:603467
HP:0002463	Language impairment	284403	WDR62	OMIM:604317
HP:0002463	Language impairment	8029	CUBN	ORPHA:35858
HP:0002463	Language impairment	81693	AMN	ORPHA:35858
HP:0002463	Language impairment	7054	TH	OMIM:605407
HP:0002463	Language impairment	7054	TH	ORPHA:101150
HP:0002463	Language impairment	79868	ALG13	ORPHA:324422
HP:0002463	Language impairment	288	ANK3	OMIM:615493
HP:0002463	Language impairment	288	ANK3	ORPHA:356996
HP:0002463	Language impairment	818	CAMK2G	OMIM:618522
HP:0002463	Language impairment	55154	MSTO1	OMIM:617675
HP:0002463	Language impairment	55154	MSTO1	ORPHA:502423
HP:0002463	Language impairment	64359	NXN	OMIM:618529
HP:0002463	Language impairment	7436	VLDLR	OMIM:224050
HP:0002463	Language impairment	2770	GNAI1	OMIM:619854
HP:0002463	Language impairment	4091	SMAD6	OMIM:617439
HP:0002463	Language impairment	84100	ARL6	OMIM:209900
HP:0002463	Language impairment	84100	ARL6	ORPHA:110
HP:0002463	Language impairment	79140	CCDC28B	OMIM:209900
HP:0002463	Language impairment	582	BBS1	OMIM:209900
HP:0002463	Language impairment	582	BBS1	ORPHA:110
HP:0002463	Language impairment	85465	SELENOI	OMIM:618768
HP:0002463	Language impairment	4330	MN1	OMIM:618774
HP:0002463	Language impairment	5528	PPP2R5D	OMIM:616355
HP:0002463	Language impairment	5528	PPP2R5D	ORPHA:457279
HP:0002463	Language impairment	57231	SNX14	OMIM:616354
HP:0002463	Language impairment	57231	SNX14	ORPHA:397709
HP:0002463	Language impairment	23327	NEDD4L	OMIM:617201
HP:0002463	Language impairment	5833	PCYT2	OMIM:618770
HP:0002463	Language impairment	3340	NDST1	OMIM:616116
HP:0002463	Language impairment	11193	WBP4	OMIM:620852
HP:0002463	Language impairment	6602	SMARCD1	OMIM:618779
HP:0002463	Language impairment	26834	RNU4-2	OMIM:620851
HP:0002463	Language impairment	5373	PMM2	OMIM:212065
HP:0002463	Language impairment	5373	PMM2	ORPHA:79318
HP:0002463	Language impairment	92482	BBIP1	ORPHA:110
HP:0002463	Language impairment	80184	CEP290	ORPHA:110
HP:0002463	Language impairment	11020	IFT27	ORPHA:110
HP:0002463	Language impairment	11020	IFT27	OMIM:615996
HP:0002463	Language impairment	49855	SCAPER	ORPHA:110
HP:0002463	Language impairment	4867	NPHP1	ORPHA:110
HP:0002463	Language impairment	51057	WDPCP	ORPHA:110
HP:0002463	Language impairment	132320	SCLT1	ORPHA:110
HP:0002463	Language impairment	27241	BBS9	ORPHA:110
HP:0002463	Language impairment	27241	BBS9	OMIM:615986
HP:0002463	Language impairment	84984	CEP19	ORPHA:110
HP:0002463	Language impairment	22954	TRIM32	ORPHA:110
HP:0002463	Language impairment	54903	MKS1	ORPHA:110
HP:0002463	Language impairment	54903	MKS1	OMIM:617121
HP:0002463	Language impairment	79738	BBS10	ORPHA:110
HP:0002463	Language impairment	123016	TTC8	ORPHA:110
HP:0002463	Language impairment	26160	IFT172	ORPHA:110
HP:0002463	Language impairment	26160	IFT172	OMIM:619471
HP:0002463	Language impairment	583	BBS2	ORPHA:110
HP:0002463	Language impairment	585	BBS4	ORPHA:110
HP:0002463	Language impairment	8195	MKKS	ORPHA:110
HP:0002463	Language impairment	54585	LZTFL1	ORPHA:110
HP:0002463	Language impairment	55212	BBS7	ORPHA:110
HP:0002463	Language impairment	166379	BBS12	ORPHA:110
HP:0002463	Language impairment	10806	SDCCAG8	ORPHA:110
HP:0002463	Language impairment	157657	CFAP418	ORPHA:110
HP:0002463	Language impairment	157657	CFAP418	OMIM:617406
HP:0002463	Language impairment	129880	BBS5	ORPHA:110
HP:0002463	Language impairment	129880	BBS5	OMIM:615983
HP:0002463	Language impairment	80173	IFT74	ORPHA:110
HP:0002463	Language impairment	80173	IFT74	OMIM:617119
HP:0002463	Language impairment	8493	PPM1D	OMIM:617450
HP:0002463	Language impairment	26038	CHD5	OMIM:619873
HP:0002463	Language impairment	2911	GRM1	OMIM:617691
HP:0002463	Language impairment	2911	GRM1	OMIM:614831
HP:0002463	Language impairment	55621	TRMT1	OMIM:618302
HP:0002463	Language impairment	23126	POGZ	OMIM:616364
HP:0002463	Language impairment	23126	POGZ	ORPHA:468678
HP:0002463	Language impairment	55773	TBC1D23	OMIM:617695
HP:0002463	Language impairment	57680	CHD8	OMIM:615032
HP:0002463	Language impairment	57680	CHD8	ORPHA:261229
HP:0002463	Language impairment	8558	CDK10	OMIM:617694
HP:0002463	Language impairment	51633	OTUD6B	OMIM:617452
HP:0002463	Language impairment	9354	UBE4A	OMIM:619639
HP:0002463	Language impairment	55280	CWF19L1	OMIM:616127
HP:0002463	Language impairment	55280	CWF19L1	ORPHA:453521
HP:0002463	Language impairment	92609	TIMM50	OMIM:617698
HP:0002463	Language impairment	3098	HK1	OMIM:618547
HP:0002463	Language impairment	5590	PRKCZ	ORPHA:1606
HP:0002463	Language impairment	2563	GABRD	ORPHA:1606
HP:0002463	Language impairment	23013	SPEN	ORPHA:1606
HP:0002463	Language impairment	23013	SPEN	OMIM:619312
HP:0002463	Language impairment	8510	MMP23B	ORPHA:1606
HP:0002463	Language impairment	7798	LUZP1	ORPHA:1606
HP:0002463	Language impairment	6497	SKI	ORPHA:1606
HP:0002463	Language impairment	10630	PDPN	ORPHA:1606
HP:0002463	Language impairment	3339	HSPG2	ORPHA:1606
HP:0002463	Language impairment	10277	UBE4B	ORPHA:1606
HP:0002463	Language impairment	8514	KCNAB2	ORPHA:1606
HP:0002463	Language impairment	473	RERE	ORPHA:1606
HP:0002463	Language impairment	63976	PRDM16	ORPHA:1606
HP:0002463	Language impairment	54897	CASZ1	ORPHA:1606
HP:0002463	Language impairment	1859	DYRK1A	ORPHA:464311
HP:0002463	Language impairment	1859	DYRK1A	OMIM:614104
HP:0002463	Language impairment	79718	TBL1XR1	OMIM:602342
HP:0002463	Language impairment	5621	PRNP	ORPHA:157941
HP:0002463	Language impairment	2232	FDXR	ORPHA:543470
HP:0002463	Language impairment	200424	TET3	OMIM:618798
HP:0002463	Language impairment	2620	GAS2	OMIM:620877
HP:0002463	Language impairment	111	ADCY5	OMIM:619647
HP:0002463	Language impairment	111	ADCY5	OMIM:619651
HP:0002463	Language impairment	9772	TMEM94	OMIM:618316
HP:0002463	Language impairment	79971	WLS	OMIM:619648
HP:0002463	Language impairment	9711	RUBCN	ORPHA:404499
HP:0002463	Language impairment	9711	RUBCN	OMIM:615705
HP:0002463	Language impairment	4208	MEF2C	ORPHA:228384
HP:0002463	Language impairment	5981	RFC1	ORPHA:504476
HP:0002463	Language impairment	55739	NAXD	OMIM:618321
HP:0002463	Language impairment	5354	PLP1	OMIM:312080
HP:0002463	Language impairment	5354	PLP1	ORPHA:280219
HP:0002463	Language impairment	7143	TNR	OMIM:619653
HP:0002463	Language impairment	2260	FGFR1	OMIM:166250
HP:0002463	Language impairment	2260	FGFR1	OMIM:190440
HP:0002463	Language impairment	2260	FGFR1	ORPHA:3366
HP:0002463	Language impairment	25836	NIPBL	OMIM:122470
HP:0002463	Language impairment	374969	SVBP	OMIM:618569
HP:0002463	Language impairment	51322	WAC	ORPHA:466950
HP:0002463	Language impairment	51322	WAC	ORPHA:284169
HP:0002463	Language impairment	51322	WAC	OMIM:616708
HP:0002463	Language impairment	2778	GNAS	ORPHA:79445
HP:0002463	Language impairment	2055	CLN8	OMIM:600143
HP:0002463	Language impairment	2055	CLN8	ORPHA:1947
HP:0002463	Language impairment	25970	SH2B1	ORPHA:261197
HP:0002463	Language impairment	25970	SH2B1	ORPHA:261222
HP:0002463	Language impairment	25970	SH2B1	ORPHA:329249
HP:0002463	Language impairment	2033	EP300	OMIM:618333
HP:0002463	Language impairment	2033	EP300	OMIM:613684
HP:0002463	Language impairment	2033	EP300	ORPHA:353284
HP:0002463	Language impairment	2033	EP300	OMIM:180849
HP:0002463	Language impairment	10533	ATG7	OMIM:619422
HP:0002463	Language impairment	1523	CUX1	OMIM:618330
HP:0002463	Language impairment	120	ADD3	OMIM:617008
HP:0002463	Language impairment	171546	SPTSSA	OMIM:620416
HP:0002463	Language impairment	4212	MEIS2	ORPHA:261190
HP:0002463	Language impairment	5908	RAP1B	OMIM:620654
HP:0002463	Language impairment	6443	SGCB	ORPHA:119
HP:0002463	Language impairment	835	CASP2	OMIM:620653
HP:0002463	Language impairment	5813	PURA	ORPHA:314655
HP:0002463	Language impairment	435	ASL	ORPHA:23
HP:0002463	Language impairment	9949	AMMECR1	OMIM:300990
HP:0002463	Language impairment	57526	PCDH19	ORPHA:101039
HP:0002463	Language impairment	695	BTK	OMIM:300755
HP:0002463	Language impairment	6134	RPL10	OMIM:300998
HP:0002463	Language impairment	6134	RPL10	ORPHA:459070
HP:0002463	Language impairment	1281	COL3A1	OMIM:618343
HP:0002463	Language impairment	160418	TMTC3	OMIM:617255
HP:0002463	Language impairment	123606	NIPA1	ORPHA:261183
HP:0002463	Language impairment	7283	TUBG1	ORPHA:261183
HP:0002463	Language impairment	81614	NIPA2	ORPHA:261183
HP:0002463	Language impairment	54517	PUS7	OMIM:618342
HP:0002463	Language impairment	10765	KDM5B	OMIM:618109
HP:0002463	Language impairment	2495	FTH1	OMIM:620669
HP:0002463	Language impairment	54973	INTS11	OMIM:620428
HP:0002463	Language impairment	10785	WDR4	OMIM:618347
HP:0002463	Language impairment	4967	OGDH	OMIM:203740
HP:0002463	Language impairment	57122	NUP107	OMIM:618348
HP:0002463	Language impairment	57122	NUP107	OMIM:616730
HP:0002463	Language impairment	6418	SET	OMIM:618106
HP:0002463	Language impairment	56623	INPP5E	OMIM:213300
HP:0002463	Language impairment	56623	INPP5E	ORPHA:75858
HP:0002463	Language impairment	56623	INPP5E	OMIM:610156
HP:0002463	Language impairment	253738	EBF3	ORPHA:96148
HP:0002463	Language impairment	253738	EBF3	OMIM:617330
HP:0002463	Language impairment	90459	ERI1	OMIM:620663
HP:0002463	Language impairment	90459	ERI1	OMIM:620662
HP:0002463	Language impairment	50814	NSDHL	ORPHA:251383
HP:0002463	Language impairment	50814	NSDHL	OMIM:300831
HP:0002463	Language impairment	3708	ITPR1	ORPHA:208513
HP:0002463	Language impairment	3708	ITPR1	OMIM:117360
HP:0002463	Language impairment	3708	ITPR1	OMIM:206700
HP:0002463	Language impairment	100033413	SNORD116-1	OMIM:176270
HP:0002463	Language impairment	8924	HERC2	OMIM:176270
HP:0002463	Language impairment	8924	HERC2	OMIM:615516
HP:0002463	Language impairment	23742	NPAP1	OMIM:176270
HP:0002463	Language impairment	338433	SNORD115-1	OMIM:176270
HP:0002463	Language impairment	54551	MAGEL2	OMIM:176270
HP:0002463	Language impairment	54551	MAGEL2	ORPHA:398069
HP:0002463	Language impairment	54551	MAGEL2	OMIM:615547
HP:0002463	Language impairment	7681	MKRN3	OMIM:176270
HP:0002463	Language impairment	145624	PWAR1	OMIM:176270
HP:0002463	Language impairment	3653	IPW	OMIM:176270
HP:0002463	Language impairment	791114	PWRN1	OMIM:176270
HP:0002463	Language impairment	1120	CHKB	OMIM:602541
HP:0002463	Language impairment	3712	IVD	ORPHA:33
HP:0002463	Language impairment	5515	PPP2CA	OMIM:618354
HP:0002463	Language impairment	6096	RORB	OMIM:618357
HP:0002463	Language impairment	112755	STX1B	OMIM:616172
HP:0002463	Language impairment	116461	TSEN15	OMIM:617026
HP:0002463	Language impairment	55262	TRAPPC14	OMIM:618351
HP:0002463	Language impairment	6492	SIM1	ORPHA:171829
HP:0002463	Language impairment	6492	SIM1	ORPHA:398079
HP:0002463	Language impairment	23043	TNIK	OMIM:617028
HP:0002463	Language impairment	23524	SRRM2	OMIM:620439
HP:0002463	Language impairment	4784	NFIX	OMIM:602535
HP:0002463	Language impairment	4784	NFIX	ORPHA:447980
HP:0002463	Language impairment	4784	NFIX	OMIM:614753
HP:0002463	Language impairment	55250	ELP2	OMIM:617270
HP:0002463	Language impairment	84340	GFM2	ORPHA:565624
HP:0002463	Language impairment	84340	GFM2	OMIM:618397
HP:0002463	Language impairment	8888	MCM3AP	OMIM:618124
HP:0002463	Language impairment	51132	RLIM	OMIM:300978
HP:0002463	Language impairment	10588	MTHFS	OMIM:618367
HP:0002463	Language impairment	2334	AFF2	OMIM:309548
HP:0002463	Language impairment	2334	AFF2	ORPHA:100973
HP:0002463	Language impairment	24140	FTSJ1	OMIM:309549
HP:0002463	Language impairment	6601	SMARCC2	OMIM:618362
HP:0002463	Language impairment	513	ATP5F1D	OMIM:618120
HP:0002463	Language impairment	92255	LMBRD2	OMIM:619694
HP:0002463	Language impairment	27341	RRP7A	OMIM:619453
HP:0002463	Language impairment	2019	EN1	OMIM:619218
HP:0002463	Language impairment	9675	TTI1	OMIM:620445
HP:0002463	Language impairment	3183	HNRNPC	OMIM:620688
HP:0002463	Language impairment	549	AUH	OMIM:250950
HP:0002463	Language impairment	549	AUH	ORPHA:67046
HP:0002463	Language impairment	5805	PTS	ORPHA:13
HP:0002463	Language impairment	80311	KLHL15	OMIM:300982
HP:0002463	Language impairment	56776	FMN2	OMIM:616193
HP:0002463	Language impairment	23111	SPART	ORPHA:101000
HP:0002463	Language impairment	2068	ERCC2	OMIM:601675
HP:0002463	Language impairment	1760	DMPK	ORPHA:589821
HP:0002463	Language impairment	7086	TKT	OMIM:617044
HP:0002463	Language impairment	7086	TKT	ORPHA:488618
HP:0002463	Language impairment	6390	SDHB	OMIM:619224
HP:0002463	Language impairment	84892	POMGNT2	OMIM:618135
HP:0002463	Language impairment	63931	MRPS14	OMIM:618378
HP:0002463	Language impairment	164	AP1G1	OMIM:619467
HP:0002463	Language impairment	164	AP1G1	OMIM:619548
HP:0002463	Language impairment	9757	KMT2B	OMIM:617284
HP:0002463	Language impairment	9758	FRMPD4	OMIM:300983
HP:0002463	Language impairment	7253	TSHR	OMIM:609152
HP:0002463	Language impairment	6304	SATB1	OMIM:619228
HP:0002463	Language impairment	6304	SATB1	OMIM:619229
HP:0002463	Language impairment	1974	EIF4A2	OMIM:620455
HP:0002463	Language impairment	220296	HEPACAM	OMIM:613925
HP:0002463	Language impairment	220296	HEPACAM	OMIM:613926
HP:0002463	Language impairment	220296	HEPACAM	ORPHA:210548
HP:0002463	Language impairment	6874	TAF4	OMIM:620450
HP:0002463	Language impairment	79736	TEFM	OMIM:620451
HP:0002463	Language impairment	3028	HSD17B10	ORPHA:391428
HP:0002463	Language impairment	3028	HSD17B10	OMIM:300438
HP:0002463	Language impairment	50801	KCNK4	OMIM:618381
HP:0002463	Language impairment	84065	TMEM222	OMIM:619470
HP:0002463	Language impairment	11212	PLPBP	OMIM:617290
HP:0002463	Language impairment	55697	VAC14	OMIM:617054
HP:0002463	Language impairment	57498	KIDINS220	OMIM:617296
HP:0002463	Language impairment	8812	CCNK	OMIM:618147
HP:0002463	Language impairment	57187	THOC2	OMIM:300957
HP:0002463	Language impairment	57187	THOC2	ORPHA:457240
HP:0002463	Language impairment	9851	KIAA0753	OMIM:619479
HP:0002463	Language impairment	27107	ZBTB11	OMIM:618383
HP:0002463	Language impairment	2892	GRIA3	ORPHA:364028
HP:0002463	Language impairment	7737	RNF113A	OMIM:300953
HP:0002463	Language impairment	6711	SPTBN1	OMIM:619475
HP:0002463	Language impairment	4361	MRE11	ORPHA:251347
HP:0002463	Language impairment	4361	MRE11	OMIM:604391
HP:0002463	Language impairment	8452	CUL3	OMIM:619239
HP:0002463	Language impairment	6608	SMO	OMIM:241800
HP:0002463	Language impairment	527	ATP6V0C	OMIM:620465
HP:0002463	Language impairment	80036	TRPM3	OMIM:620224
HP:0002463	Language impairment	10283	CWC27	ORPHA:166035
HP:0002463	Language impairment	10283	CWC27	OMIM:250410
HP:0002463	Language impairment	388015	RTL1	ORPHA:96184
HP:0002463	Language impairment	388015	RTL1	ORPHA:254531
HP:0002463	Language impairment	388015	RTL1	ORPHA:254525
HP:0002463	Language impairment	8788	DLK1	ORPHA:96184
HP:0002463	Language impairment	8788	DLK1	ORPHA:254531
HP:0002463	Language impairment	8788	DLK1	ORPHA:254525
HP:0002463	Language impairment	55384	MEG3	ORPHA:96184
HP:0002463	Language impairment	55384	MEG3	ORPHA:254531
HP:0002463	Language impairment	55384	MEG3	ORPHA:254525
HP:0002463	Language impairment	11198	SUPT16H	OMIM:619480
HP:0002463	Language impairment	11198	SUPT16H	ORPHA:261229
HP:0002463	Language impairment	2887	GRB10	ORPHA:96182
HP:0002463	Language impairment	25839	COG4	OMIM:618150
HP:0002463	Language impairment	1457	CSNK2A1	OMIM:617062
HP:0002463	Language impairment	7204	TRIO	OMIM:617061
HP:0002463	Language impairment	7204	TRIO	OMIM:618825
HP:0002463	Language impairment	100147744	RNU7-1	OMIM:619487
HP:0002463	Language impairment	203068	TUBB	OMIM:156610
HP:0002463	Language impairment	203068	TUBB	OMIM:615771
HP:0002463	Language impairment	6872	TAF1	OMIM:300966
HP:0002463	Language impairment	6872	TAF1	ORPHA:480907
HP:0002463	Language impairment	8567	MADD	OMIM:619004
HP:0002463	Language impairment	8567	MADD	OMIM:619005
HP:0002463	Language impairment	4841	NONO	OMIM:300967
HP:0002463	Language impairment	4841	NONO	ORPHA:466791
HP:0002463	Language impairment	5058	PAK1	OMIM:618158
HP:0002463	Language impairment	8239	USP9X	OMIM:300968
HP:0002463	Language impairment	57477	SHROOM4	ORPHA:85288
HP:0002463	Language impairment	23067	SETD1B	OMIM:619000
HP:0002463	Language impairment	23112	TNRC6B	OMIM:619243
HP:0002463	Language impairment	91875	TTC5	OMIM:619244
HP:0002463	Language impairment	9373	PLAA	ORPHA:521426
HP:0002463	Language impairment	9373	PLAA	OMIM:617527
HP:0002463	Language impairment	23096	IQSEC2	OMIM:309530
HP:0002463	Language impairment	23096	IQSEC2	ORPHA:819
HP:0002463	Language impairment	23096	IQSEC2	ORPHA:217377
HP:0002463	Language impairment	10681	GNB5	ORPHA:542306
HP:0002463	Language impairment	10681	GNB5	OMIM:617173
HP:0002463	Language impairment	10681	GNB5	OMIM:617182
HP:0002463	Language impairment	5625	PRODH	OMIM:239500
HP:0002463	Language impairment	2799	GNS	OMIM:252940
HP:0002463	Language impairment	23387	SIK3	OMIM:618162
HP:0002463	Language impairment	84231	TRAF7	OMIM:618164
HP:0002463	Language impairment	8242	KDM5C	ORPHA:85279
HP:0002463	Language impairment	8242	KDM5C	OMIM:300534
HP:0002463	Language impairment	1315	COPB1	OMIM:619255
HP:0002463	Language impairment	27316	RBMX	ORPHA:85286
HP:0002463	Language impairment	284058	KANSL1	OMIM:610443
HP:0002463	Language impairment	284058	KANSL1	ORPHA:363958
HP:0002463	Language impairment	284058	KANSL1	ORPHA:363965
HP:0002463	Language impairment	81615	TMEM163	OMIM:620243
HP:0002463	Language impairment	51082	POLR1D	OMIM:613717
HP:0002463	Language impairment	51082	POLR1D	ORPHA:861
HP:0002463	Language impairment	10079	ATP9A	OMIM:620242
HP:0002463	Language impairment	2801	GOLGA2	OMIM:620240
HP:0002463	Language impairment	284361	EMC10	OMIM:619264
HP:0002463	Language impairment	170302	ARX	OMIM:309510
HP:0002463	Language impairment	170302	ARX	ORPHA:94083
HP:0002463	Language impairment	8398	PLA2G6	OMIM:610217
HP:0002463	Language impairment	8398	PLA2G6	OMIM:256600
HP:0002463	Language impairment	8398	PLA2G6	ORPHA:35069
HP:0002463	Language impairment	55294	FBXW7	OMIM:620012
HP:0002463	Language impairment	9898	UBAP2L	OMIM:620494
HP:0002463	Language impairment	8085	KMT2D	OMIM:147920
HP:0002463	Language impairment	8085	KMT2D	OMIM:620186
HP:0002463	Language impairment	7403	KDM6A	OMIM:147920
HP:0002463	Language impairment	9131	AIFM1	ORPHA:238329
HP:0002463	Language impairment	6095	RORA	OMIM:618060
HP:0002463	Language impairment	5138	PDE2A	OMIM:619150
HP:0002463	Language impairment	8450	CUL4B	OMIM:300354
HP:0002463	Language impairment	6535	SLC6A8	OMIM:300352
HP:0002463	Language impairment	6535	SLC6A8	ORPHA:52503
HP:0002463	Language impairment	26960	NBEA	OMIM:619157
HP:0002463	Language impairment	23241	PACS2	OMIM:618067
HP:0002463	Language impairment	23241	PACS2	ORPHA:442835
HP:0002463	Language impairment	10466	COG5	OMIM:613612
HP:0002463	Language impairment	10466	COG5	ORPHA:263487
HP:0002463	Language impairment	123263	MTFMT	OMIM:614947
HP:0002463	Language impairment	340990	OTOG	OMIM:614945
HP:0002463	Language impairment	51343	FZR1	OMIM:620145
HP:0002463	Language impairment	51343	FZR1	ORPHA:442835
HP:0002463	Language impairment	9839	ZEB2	OMIM:235730
HP:0002463	Language impairment	10093	ARPC4	OMIM:620141
HP:0002463	Language impairment	5447	POR	ORPHA:95699
HP:0002463	Language impairment	80232	WDR26	ORPHA:513456
HP:0002463	Language impairment	3199	HOXA2	ORPHA:83463
HP:0002463	Language impairment	4010	LMX1B	ORPHA:495818
HP:0002463	Language impairment	6812	STXBP1	ORPHA:495818
HP:0002463	Language impairment	6812	STXBP1	ORPHA:599373
HP:0002463	Language impairment	80055	PGAP1	OMIM:615802
HP:0002463	Language impairment	2314	FLII	ORPHA:819
HP:0002463	Language impairment	10522	DEAF1	ORPHA:819
HP:0002463	Language impairment	55780	ERMARD	ORPHA:75857
HP:0002463	Language impairment	55780	ERMARD	OMIM:615544
HP:0002463	Language impairment	9382	COG1	OMIM:611209
HP:0002463	Language impairment	4001	LMNB1	OMIM:619179
HP:0002463	Language impairment	64324	NSD1	OMIM:117550
HP:0002463	Language impairment	8913	CACNA1G	OMIM:618087
HP:0002463	Language impairment	3766	KCNJ10	OMIM:612780
HP:0002463	Language impairment	80204	FBXO11	OMIM:618089
HP:0002463	Language impairment	93627	TBCK	OMIM:616900
HP:0002463	Language impairment	93627	TBCK	ORPHA:488632
HP:0002463	Language impairment	80254	CEP63	OMIM:614728
HP:0002463	Language impairment	23325	WASHC4	OMIM:615817
HP:0002463	Language impairment	56984	PSMG2	OMIM:619183
HP:0002463	Language impairment	57531	HACE1	ORPHA:464282
HP:0002463	Language impairment	80856	LNPK	OMIM:618090
HP:0002463	Language impairment	84823	LMNB2	OMIM:619180
HP:0002463	Language impairment	64919	BCL11B	OMIM:618092
HP:0002463	Language impairment	23036	ZNF292	OMIM:619188
HP:0002463	Language impairment	23545	ATP6V0A2	OMIM:278250
HP:0002463	Language impairment	23545	ATP6V0A2	ORPHA:2834
HP:0002463	Language impairment	23545	ATP6V0A2	ORPHA:357074
HP:0002463	Language impairment	23314	SATB2	OMIM:612313
HP:0002463	Language impairment	23314	SATB2	ORPHA:251019
HP:0002463	Language impairment	54872	PIGG	OMIM:616917
HP:0002463	Language impairment	54872	PIGG	ORPHA:488635
HP:0002463	Language impairment	25942	SIN3A	OMIM:613406
HP:0002463	Language impairment	175	AGA	ORPHA:93
HP:0002463	Language impairment	175	AGA	OMIM:208400
HP:0002463	Language impairment	3192	HNRNPU	ORPHA:238769
HP:0002463	Language impairment	9653	HS2ST1	OMIM:619194
HP:0002463	Language impairment	1798	DPAGT1	ORPHA:86309
HP:0002463	Language impairment	10841	FTCD	ORPHA:51208
HP:0002463	Language impairment	5063	PAK3	OMIM:300558
HP:0002463	Language impairment	26053	AUTS2	OMIM:615834
HP:0002463	Language impairment	26053	AUTS2	ORPHA:352490
HP:0002463	Language impairment	3211	HOXB1	OMIM:614744
HP:0002463	Language impairment	6507	SLC1A3	ORPHA:2131
HP:0002463	Language impairment	478	ATP1A3	ORPHA:2131
HP:0002463	Language impairment	478	ATP1A3	ORPHA:442835
HP:0002463	Language impairment	84720	PIGO	OMIM:614749
HP:0002463	Language impairment	55343	SLC35C1	OMIM:266265
HP:0002463	Language impairment	283209	PGM2L1	OMIM:620191
HP:0002463	Language impairment	79228	THOC6	ORPHA:363444
HP:0002463	Language impairment	2316	FLNA	OMIM:300321
HP:0002463	Language impairment	23522	KAT6B	ORPHA:85201
HP:0002463	Language impairment	182	JAG1	OMIM:118450
HP:0002463	Language impairment	10472	ZBTB18	OMIM:612337
HP:0002463	Language impairment	34	ACADM	ORPHA:42
HP:0002463	Language impairment	55084	SOBP	OMIM:613671
HP:0002463	Language impairment	55149	MTPAP	OMIM:613672
HP:0002463	Language impairment	2146	EZH2	OMIM:277590
HP:0002463	Language impairment	81887	LAS1L	OMIM:309585
HP:0002463	Language impairment	10815	CPLX1	ORPHA:352582
HP:0002463	Language impairment	57465	TBC1D24	ORPHA:352582
HP:0002463	Language impairment	6509	SLC1A4	ORPHA:447997
HP:0002463	Language impairment	2776	GNAQ	ORPHA:3205
HP:0002463	Language impairment	226	ALDOA	ORPHA:57
HP:0002463	Language impairment	6567	SLC16A2	ORPHA:59
HP:0002463	Language impairment	5832	ALDH18A1	ORPHA:447760
HP:0002463	Language impairment	22907	DHX30	OMIM:617804
HP:0002463	Language impairment	196528	ARID2	OMIM:617808
HP:0002463	Language impairment	10075	HUWE1	OMIM:309590
HP:0002463	Language impairment	6513	SLC2A1	ORPHA:71277
HP:0002463	Language impairment	6513	SLC2A1	OMIM:606777
HP:0002463	Language impairment	6513	SLC2A1	ORPHA:1942
HP:0002463	Language impairment	8243	SMC1A	OMIM:301044
HP:0002463	Language impairment	124997	WDR81	OMIM:610185
HP:0002463	Language impairment	8733	GPAA1	OMIM:617810
HP:0002463	Language impairment	8733	GPAA1	ORPHA:529665
HP:0002463	Language impairment	89891	DYNC2I2	OMIM:615633
HP:0002463	Language impairment	132	ADK	OMIM:614300
HP:0002463	Language impairment	2290	FOXG1	OMIM:613454
HP:0002463	Language impairment	2290	FOXG1	ORPHA:442835
HP:0002463	Language impairment	11133	KPTN	OMIM:615637
HP:0002463	Language impairment	11133	KPTN	ORPHA:397612
HP:0002463	Language impairment	6334	SCN8A	OMIM:614306
HP:0002463	Language impairment	6334	SCN8A	ORPHA:442835
HP:0002463	Language impairment	89970	RSPRY1	OMIM:616723
HP:0002463	Language impairment	23028	KDM1A	OMIM:616728
HP:0002463	Language impairment	23028	KDM1A	ORPHA:477993
HP:0002463	Language impairment	26115	TANC2	OMIM:618906
HP:0002463	Language impairment	3981	LIG4	OMIM:606593
HP:0002463	Language impairment	3981	LIG4	ORPHA:235
HP:0002463	Language impairment	26580	BSCL2	ORPHA:363400
HP:0002463	Language impairment	26580	BSCL2	OMIM:615924
HP:0002463	Language impairment	1806	DPYD	OMIM:274270
HP:0002463	Language impairment	1806	DPYD	ORPHA:293948
HP:0002463	Language impairment	23291	FBXW11	OMIM:618914
HP:0002463	Language impairment	2782	GNB1	OMIM:616973
HP:0002463	Language impairment	4893	NRAS	OMIM:613224
HP:0002463	Language impairment	3097	HIVEP2	OMIM:616977
HP:0002463	Language impairment	10982	MAPRE2	OMIM:616734
HP:0002463	Language impairment	3176	HNMT	OMIM:616739
HP:0002463	Language impairment	2891	GRIA2	OMIM:618917
HP:0002463	Language impairment	4131	MAP1B	OMIM:618918
HP:0002463	Language impairment	84679	SLC9A7	OMIM:301024
HP:0002463	Language impairment	90161	HS6ST2	OMIM:301025
HP:0002463	Language impairment	4694	NDUFA1	OMIM:301020
HP:0002463	Language impairment	10735	STAG2	OMIM:301022
HP:0002463	Language impairment	2332	FMR1	ORPHA:449291
HP:0002463	Language impairment	2332	FMR1	ORPHA:908
HP:0002463	Language impairment	55906	ZC4H2	OMIM:314580
HP:0002463	Language impairment	63035	BCORL1	OMIM:301029
HP:0002463	Language impairment	116150	NUS1	OMIM:617831
HP:0002463	Language impairment	116150	NUS1	ORPHA:442835
HP:0002463	Language impairment	79947	DHDDS	OMIM:617836
HP:0002463	Language impairment	79947	DHDDS	ORPHA:442835
HP:0002463	Language impairment	91137	SLC25A46	OMIM:616505
HP:0002463	Language impairment	6678	SPARC	OMIM:616507
HP:0002463	Language impairment	6792	CDKL5	ORPHA:505652
HP:0002463	Language impairment	10943	MSL3	OMIM:301032
HP:0002463	Language impairment	6638	SNRPN	OMIM:209850
HP:0002463	Language impairment	6638	SNRPN	ORPHA:177907
HP:0002463	Language impairment	4041	LRP5	ORPHA:2788
HP:0002463	Language impairment	56479	KCNQ5	OMIM:617601
HP:0002463	Language impairment	23152	CIC	OMIM:617600
HP:0002463	Language impairment	128637	TBC1D20	OMIM:615663
HP:0002463	Language impairment	9343	EFTUD2	ORPHA:79113
HP:0002463	Language impairment	9343	EFTUD2	OMIM:610536
HP:0002463	Language impairment	9997	SCO2	OMIM:604377
HP:0002463	Language impairment	10664	CTCF	ORPHA:363611
HP:0002463	Language impairment	10664	CTCF	OMIM:615502
HP:0002463	Language impairment	10367	MICU1	OMIM:615673
HP:0002463	Language impairment	8270	LAGE3	OMIM:301006
HP:0002463	Language impairment	22866	CNKSR2	OMIM:301008
HP:0002463	Language impairment	22866	CNKSR2	ORPHA:442835
HP:0002463	Language impairment	1861	TOR1A	OMIM:618947
HP:0002463	Language impairment	117581	TWIST2	OMIM:209885
HP:0002463	Language impairment	117581	TWIST2	OMIM:200110
HP:0002463	Language impairment	117581	TWIST2	ORPHA:920
HP:0002463	Language impairment	23040	MYT1L	OMIM:616521
HP:0002463	Language impairment	23040	MYT1L	ORPHA:647799
HP:0002463	Language impairment	8936	WASF1	OMIM:618707
HP:0002463	Language impairment	6697	SPR	ORPHA:70594
HP:0002463	Language impairment	26503	SLC17A5	OMIM:604369
HP:0002463	Language impairment	80210	ARMC9	OMIM:617622
HP:0002463	Language impairment	81562	LMAN2L	OMIM:617863
HP:0002463	Language impairment	84628	NTNG2	OMIM:618718
HP:0002463	Language impairment	139285	AMER1	OMIM:300373
HP:0002463	Language impairment	259266	ASPM	OMIM:608716
HP:0002463	Language impairment	54888	NSUN2	OMIM:611091
HP:0002463	Language impairment	54888	NSUN2	ORPHA:235
HP:0002463	Language impairment	54802	TRIT1	OMIM:617873
HP:0002463	Language impairment	7518	XRCC4	OMIM:616541
HP:0002463	Language impairment	10274	STAG1	OMIM:617635
HP:0002463	Language impairment	51317	PHF21A	OMIM:618725
HP:0002463	Language impairment	2806	GOT2	OMIM:618721
HP:0002463	Language impairment	1788	DNMT3A	OMIM:618724
HP:0002463	Language impairment	3778	KCNMA1	OMIM:618729
HP:0002463	Language impairment	3778	KCNMA1	OMIM:617643
HP:0002463	Language impairment	2182	ACSL4	OMIM:300387
HP:0002463	Language impairment	9699	RIMS2	OMIM:618970
HP:0002463	Language impairment	1968	EIF2S3	OMIM:300148
HP:0002463	Language impairment	672	BRCA1	OMIM:617883
HP:0002463	Language impairment	5087	PBX1	OMIM:617641
HP:0002463	Language impairment	523	ATP6V1A	OMIM:617403
HP:0002463	Language impairment	523	ATP6V1A	ORPHA:442835
HP:0002463	Language impairment	523	ATP6V1A	ORPHA:357074
HP:0002463	Language impairment	84148	KAT8	OMIM:618974
HP:0002463	Language impairment	27034	ACAD8	ORPHA:79159
HP:0002463	Language impairment	7528	YY1	ORPHA:506358
HP:0002463	Language impairment	7528	YY1	OMIM:617557
HP:0002463	Language impairment	2218	FKTN	ORPHA:272
HP:0002463	Language impairment	8367	H4C5	OMIM:619950
HP:0002463	Language impairment	91452	ACBD5	OMIM:618863
HP:0002463	Language impairment	9853	RUSC2	OMIM:617773
HP:0002463	Language impairment	9524	TECR	OMIM:614020
HP:0002463	Language impairment	23446	SLC44A1	OMIM:618868
HP:0002463	Language impairment	6873	TAF2	OMIM:615599
HP:0002463	Language impairment	2895	GRID2	OMIM:616204
HP:0002463	Language impairment	10054	UBA2	OMIM:619959
HP:0002463	Language impairment	2972	BRF1	OMIM:616202
HP:0002463	Language impairment	10973	ASCC3	OMIM:620700
HP:0002463	Language impairment	3703	STT3A	OMIM:619714
HP:0002463	Language impairment	84942	WDR73	OMIM:251300
HP:0002463	Language impairment	116931	MED12L	OMIM:618872
HP:0002463	Language impairment	3020	H3-3A	OMIM:619720
HP:0002463	Language impairment	7552	ZNF711	OMIM:300803
HP:0002463	Language impairment	1630	DCC	OMIM:617542
HP:0002463	Language impairment	51111	KMT5B	OMIM:617788
HP:0002463	Language impairment	80155	NAA15	OMIM:617787
HP:0002463	Language impairment	472	ATM	OMIM:208900
HP:0002463	Language impairment	10501	SEMA6B	OMIM:618876
HP:0002463	Language impairment	8309	ACOX2	OMIM:617308
HP:0002463	Language impairment	10381	TUBB3	OMIM:614039
HP:0002463	Language impairment	57156	TMEM63C	OMIM:619966
HP:0002463	Language impairment	28960	DCPS	OMIM:616459
HP:0002463	Language impairment	27102	EIF2AK1	OMIM:618878
HP:0002463	Language impairment	3781	KCNN2	OMIM:619725
HP:0002463	Language impairment	5189	PEX1	OMIM:214100
HP:0002463	Language impairment	5189	PEX1	OMIM:601539
HP:0002463	Language impairment	6660	SOX5	ORPHA:313892
HP:0002463	Language impairment	6660	SOX5	OMIM:616803
HP:0002463	Language impairment	137492	VPS37A	ORPHA:319199
HP:0002463	Language impairment	137492	VPS37A	OMIM:614898
HP:0002463	Language impairment	83696	TRAPPC9	OMIM:613192
HP:0002463	Language impairment	129685	TAF8	OMIM:619972
HP:0002463	Language impairment	2590	GALNT2	OMIM:618885
HP:0002463	Language impairment	55870	ASH1L	OMIM:617796
HP:0002463	Language impairment	535	ATP6V0A1	OMIM:619970
HP:0002463	Language impairment	816	CAMK2B	OMIM:617799
HP:0002463	Language impairment	815	CAMK2A	OMIM:617798
HP:0002463	Language impairment	23184	MESD	OMIM:618644
HP:0002463	Language impairment	51319	RSRC1	OMIM:618402
HP:0002463	Language impairment	8560	DEGS1	OMIM:618404
HP:0002463	Language impairment	157680	VPS13B	OMIM:216550
HP:0002463	Language impairment	8726	EED	OMIM:617561
HP:0002463	Language impairment	10715	CERS1	OMIM:616230
HP:0002463	Language impairment	1656	DDX6	OMIM:618653
HP:0002463	Language impairment	2744	GLS	OMIM:618412
HP:0002463	Language impairment	5442	POLRMT	OMIM:619743
HP:0002463	Language impairment	6712	SPTBN2	OMIM:615386
HP:0002463	Language impairment	6712	SPTBN2	ORPHA:352403
HP:0002463	Language impairment	4297	KMT2A	ORPHA:319182
HP:0002463	Language impairment	4297	KMT2A	OMIM:605130
HP:0002463	Language impairment	55714	TENM3	OMIM:615145
HP:0002463	Language impairment	83636	C19orf12	OMIM:614298
HP:0002463	Language impairment	833	CARS1	OMIM:618891
HP:0002463	Language impairment	57178	ZMIZ1	OMIM:618659
HP:0002463	Language impairment	2783	GNB2	OMIM:619503
HP:0002463	Language impairment	26057	ANKRD17	OMIM:619504
HP:0002463	Language impairment	3737	KCNA2	ORPHA:442835
HP:0002463	Language impairment	1759	DNM1	ORPHA:442835
HP:0002463	Language impairment	8120	AP3B2	ORPHA:442835
HP:0002463	Language impairment	10991	SLC38A3	ORPHA:442835
HP:0002463	Language impairment	3747	KCNC2	ORPHA:442835
HP:0002463	Language impairment	1917	EEF1A2	ORPHA:442835
HP:0002463	Language impairment	1917	EEF1A2	OMIM:616409
HP:0002463	Language impairment	23219	FBXO28	ORPHA:442835
HP:0002463	Language impairment	2561	GABRB2	ORPHA:442835
HP:0002463	Language impairment	2558	GABRA5	ORPHA:442835
HP:0002463	Language impairment	2906	GRIN2D	ORPHA:442835
HP:0002463	Language impairment	1213	CLTC	ORPHA:442835
HP:0002463	Language impairment	51741	WWOX	ORPHA:442835
HP:0002463	Language impairment	51741	WWOX	ORPHA:284282
HP:0002463	Language impairment	23334	SZT2	ORPHA:442835
HP:0002463	Language impairment	348980	HCN1	ORPHA:442835
HP:0002463	Language impairment	348980	HCN1	OMIM:618482
HP:0002463	Language impairment	25977	NECAP1	ORPHA:442835
HP:0002463	Language impairment	16	AARS1	ORPHA:442835
HP:0002463	Language impairment	9568	GABBR2	ORPHA:442835
HP:0002463	Language impairment	2555	GABRA2	ORPHA:442835
HP:0002463	Language impairment	55152	DALRD3	ORPHA:442835
HP:0002463	Language impairment	26999	CYFIP2	ORPHA:442835
HP:0002463	Language impairment	4915	NTRK2	ORPHA:442835
HP:0002463	Language impairment	25973	PARS2	ORPHA:442835
HP:0002463	Language impairment	23097	CDK19	ORPHA:442835
HP:0002463	Language impairment	2257	FGF12	ORPHA:442835
HP:0002463	Language impairment	5530	PPP3CA	ORPHA:442835
HP:0002463	Language impairment	22906	TRAK1	ORPHA:442835
HP:0002463	Language impairment	2566	GABRG2	ORPHA:442835
HP:0002463	Language impairment	7532	YWHAG	ORPHA:442835
HP:0002463	Language impairment	79876	UBA5	ORPHA:442835
HP:0002463	Language impairment	6328	SCN3A	ORPHA:442835
HP:0002463	Language impairment	6328	SCN3A	OMIM:617935
HP:0002463	Language impairment	781	CACNA2D1	ORPHA:442835
HP:0002463	Language impairment	10659	CELF2	ORPHA:442835
HP:0002463	Language impairment	10659	CELF2	OMIM:619561
HP:0002463	Language impairment	774	CACNA1B	ORPHA:442835
HP:0002463	Language impairment	51412	ACTL6B	ORPHA:442835
HP:0002463	Language impairment	6506	SLC1A2	ORPHA:442835
HP:0002463	Language impairment	8867	SYNJ1	ORPHA:442835
HP:0002463	Language impairment	3745	KCNB1	ORPHA:442835
HP:0002463	Language impairment	284111	SLC13A5	ORPHA:442835
HP:0002463	Language impairment	55623	THUMPD1	OMIM:619989
HP:0002463	Language impairment	284439	SLC25A42	OMIM:618416
HP:0002463	Language impairment	56006	SMG9	OMIM:619995
HP:0002463	Language impairment	1182	CLCN3	OMIM:619512
HP:0002463	Language impairment	29081	METTL5	OMIM:618665
HP:0002463	Language impairment	10717	AP4B1	OMIM:614066
HP:0002463	Language impairment	7862	BRPF1	OMIM:617333
HP:0002463	Language impairment	54914	FOCAD	OMIM:619991
HP:0002463	Language impairment	8363	H4C11	OMIM:619759
HP:0002463	Language impairment	2550	GABBR1	OMIM:620502
HP:0002463	Language impairment	2592	GALT	OMIM:230400
HP:0002463	Language impairment	2592	GALT	ORPHA:79239
HP:0002463	Language impairment	7701	ZNF142	OMIM:618425
HP:0002463	Language impairment	6899	TBX1	ORPHA:1727
HP:0002463	Language impairment	6899	TBX1	OMIM:188400
HP:0002463	Language impairment	8659	ALDH4A1	ORPHA:79101
HP:0002463	Language impairment	93986	FOXP2	ORPHA:251061
HP:0002463	Language impairment	93986	FOXP2	ORPHA:209908
HP:0002463	Language impairment	93986	FOXP2	OMIM:602081
HP:0002463	Language impairment	26137	ZBTB20	OMIM:259050
HP:0002463	Language impairment	8314	BAP1	OMIM:619762
HP:0002463	Language impairment	10021	HCN4	OMIM:619521
HP:0002463	Language impairment	7750	ZMYM2	OMIM:619522
HP:0002463	Language impairment	6942	TCF20	OMIM:618430
HP:0002463	Language impairment	2720	GLB1	OMIM:230650
HP:0002463	Language impairment	10297	APC2	OMIM:618677
HP:0002463	Language impairment	10297	APC2	OMIM:617169
HP:0002463	Language impairment	57466	SCAF4	OMIM:620511
HP:0002463	Language impairment	256471	MFSD8	OMIM:610951
HP:0002463	Language impairment	51341	ZBTB7A	OMIM:619769
HP:0002463	Language impairment	9338	TCEAL1	OMIM:301094
HP:0002463	Language impairment	7030	TFE3	OMIM:301066
HP:0002463	Language impairment	4123	MAN2C1	OMIM:619775
HP:0002463	Language impairment	54941	RNF125	OMIM:616260
HP:0002463	Language impairment	85365	ALG2	OMIM:607906
HP:0002463	Language impairment	259232	NALCN	OMIM:616266
HP:0002463	Language impairment	259232	NALCN	ORPHA:562528
HP:0002463	Language impairment	259232	NALCN	ORPHA:371364
HP:0002463	Language impairment	10463	SLC30A9	OMIM:617595
HP:0002463	Language impairment	57479	PRR12	OMIM:619539
HP:0002463	Language impairment	6709	SPTAN1	OMIM:620528
HP:0002463	Language impairment	6709	SPTAN1	OMIM:620540
HP:0002463	Language impairment	1107	CHD3	OMIM:618205
HP:0002463	Language impairment	85459	CEP295	OMIM:620767
HP:0002463	Language impairment	79087	ALG12	ORPHA:79324
HP:0002463	Language impairment	1173	AP2M1	ORPHA:1942
HP:0002463	Language impairment	1106	CHD2	ORPHA:1942
HP:0002463	Language impairment	6529	SLC6A1	ORPHA:1942
HP:0002463	Language impairment	25981	DNAH1	ORPHA:244
HP:0002463	Language impairment	115948	ODAD3	ORPHA:244
HP:0002463	Language impairment	54768	HYDIN	ORPHA:244
HP:0002463	Language impairment	352909	DNAAF3	ORPHA:244
HP:0002463	Language impairment	27148	STK36	ORPHA:244
HP:0002463	Language impairment	51314	NME8	ORPHA:244
HP:0002463	Language impairment	92749	DRC1	ORPHA:244
HP:0002463	Language impairment	54970	TTC12	ORPHA:244
HP:0002463	Language impairment	152110	NEK10	ORPHA:244
HP:0002463	Language impairment	8481	OFD1	ORPHA:244
HP:0002463	Language impairment	2302	FOXJ1	ORPHA:244
HP:0002463	Language impairment	221421	RSPH9	ORPHA:244
HP:0002463	Language impairment	85478	CCDC65	ORPHA:244
HP:0002463	Language impairment	55036	CCDC40	ORPHA:244
HP:0002463	Language impairment	51364	ZMYND10	ORPHA:244
HP:0002463	Language impairment	64446	DNAI2	ORPHA:244
HP:0002463	Language impairment	8382	NME5	ORPHA:244
HP:0002463	Language impairment	6674	SPAG1	ORPHA:244
HP:0002463	Language impairment	83544	DNAL1	ORPHA:244
HP:0002463	Language impairment	89765	RSPH1	ORPHA:244
HP:0002463	Language impairment	83538	ODAD4	ORPHA:244
HP:0002463	Language impairment	200373	CFAP221	ORPHA:244
HP:0002463	Language impairment	374407	DNAJB13	ORPHA:244
HP:0002463	Language impairment	55172	DNAAF2	ORPHA:244
HP:0002463	Language impairment	161582	DNAAF4	ORPHA:244
HP:0002463	Language impairment	2622	GAS8	ORPHA:244
HP:0002463	Language impairment	23639	DNAAF11	ORPHA:244
HP:0002463	Language impairment	27019	DNAI1	ORPHA:244
HP:0002463	Language impairment	345895	RSPH4A	ORPHA:244
HP:0002463	Language impairment	54919	DNAAF5	ORPHA:244
HP:0002463	Language impairment	6103	RPGR	ORPHA:244
HP:0002463	Language impairment	85452	CFAP74	ORPHA:244
HP:0002463	Language impairment	93233	ODAD1	ORPHA:244
HP:0002463	Language impairment	55130	ODAD2	ORPHA:244
HP:0002463	Language impairment	1767	DNAH5	ORPHA:244
HP:0002463	Language impairment	83861	RSPH3	ORPHA:244
HP:0002463	Language impairment	345643	MCIDAS	ORPHA:244
HP:0002463	Language impairment	56683	CFAP298	ORPHA:244
HP:0002463	Language impairment	79925	SPEF2	ORPHA:244
HP:0002463	Language impairment	10309	CCNO	ORPHA:244
HP:0002463	Language impairment	115399	LRRC56	ORPHA:244
HP:0002463	Language impairment	139212	DNAAF6	ORPHA:244
HP:0002463	Language impairment	123872	DNAAF1	ORPHA:244
HP:0002463	Language impairment	85016	CFAP300	ORPHA:244
HP:0002463	Language impairment	339829	CCDC39	ORPHA:244
HP:0002463	Language impairment	8701	DNAH11	ORPHA:244
HP:0002463	Language impairment	1770	DNAH9	ORPHA:244
HP:0002463	Language impairment	246176	GAS2L2	ORPHA:244
HP:0002463	Language impairment	10262	SF3B4	ORPHA:245
HP:0002463	Language impairment	10262	SF3B4	OMIM:154400
HP:0002463	Language impairment	2742	GLRA2	OMIM:301076
HP:0002463	Language impairment	26100	WIPI2	OMIM:618453
HP:0002463	Language impairment	8295	TRRAP	OMIM:618454
HP:0002463	Language impairment	8621	CDK13	OMIM:617360
HP:0002463	Language impairment	5256	PHKA2	ORPHA:264580
HP:0002463	Language impairment	5261	PHKG2	ORPHA:264580
HP:0002463	Language impairment	5587	PRKD1	OMIM:617364
HP:0002463	Language impairment	27133	KCNH5	OMIM:620537
HP:0002463	Language impairment	221078	NSUN6	OMIM:620779
HP:0002463	Language impairment	27145	FILIP1	OMIM:620775
HP:0002463	Language impairment	140679	SLC32A1	OMIM:620774
HP:0002463	Language impairment	8905	AP1S2	OMIM:304340
HP:0002463	Language impairment	78987	CRELD1	OMIM:620771
HP:0002463	Language impairment	54808	DYM	ORPHA:239
HP:0002463	Language impairment	55217	TMLHE	OMIM:300872
HP:0002463	Language impairment	5898	RALA	OMIM:619311
HP:0002463	Language impairment	9759	HDAC4	OMIM:619797
HP:0002463	Language impairment	9759	HDAC4	OMIM:600430
HP:0002463	Language impairment	30000	TNPO2	OMIM:619556
HP:0002463	Language impairment	6477	SIAH1	OMIM:619314
HP:0002463	Language impairment	57102	FERRY3	OMIM:618221
HP:0002463	Language impairment	51728	POLR3K	OMIM:619310
HP:0002463	Language impairment	83548	COG3	OMIM:620546
HP:0002463	Language impairment	55628	ZNF407	OMIM:619557
HP:0002463	Language impairment	11267	SNF8	OMIM:620784
HP:0002463	Language impairment	9256	TSPOAP1	ORPHA:101150
HP:0002463	Language impairment	84320	ACBD6	OMIM:620785
HP:0002463	Language impairment	4076	CAPRIN1	OMIM:620782
HP:0002463	Language impairment	1387	CREBBP	ORPHA:353281
HP:0002463	Language impairment	1387	CREBBP	OMIM:180849
HP:0002463	Language impairment	1387	CREBBP	ORPHA:353277
HP:0002463	Language impairment	56521	DNAJC12	OMIM:617384
HP:0002463	Language impairment	3714	JAG2	OMIM:619566
HP:0002463	Language impairment	10978	CLP1	ORPHA:411493
HP:0002463	Language impairment	23030	KDM4B	OMIM:619320
HP:0002463	Language impairment	443	ASPA	ORPHA:314918
HP:0002463	Language impairment	7453	WARS1	OMIM:620317
HP:0002463	Language impairment	5010	CLDN11	OMIM:619328
HP:0002463	Language impairment	6263	RYR3	OMIM:620310
HP:0002463	Language impairment	161725	OTUD7A	OMIM:620790
HP:0002463	Language impairment	1725	DHPS	OMIM:618480
HP:0002463	Language impairment	1741	DLG3	OMIM:300850
HP:0002463	Language impairment	57551	TAOK1	OMIM:619575
HP:0002463	Language impairment	25929	GEMIN5	OMIM:619333
HP:0002463	Language impairment	79641	ROGDI	OMIM:226750
HP:0002463	Language impairment	54496	PRMT7	OMIM:617157
HP:0002463	Language impairment	23476	BRD4	OMIM:620568
HP:0002463	Language impairment	84188	FAR1	OMIM:619338
HP:0002463	Language impairment	9969	MED13	OMIM:618009
HP:0002463	Language impairment	92344	GORAB	OMIM:231070
HP:0002463	Language impairment	4141	MARS1	OMIM:620323
HP:0002463	Language impairment	10157	AASS	OMIM:238700
HP:0002463	Language impairment	10157	AASS	ORPHA:2203
HP:0002463	Language impairment	23203	PMPCA	OMIM:213200
HP:0002463	Language impairment	23203	PMPCA	ORPHA:1170
HP:0002463	Language impairment	23389	MED13L	ORPHA:369891
HP:0002463	Language impairment	2898	GRIK2	OMIM:619580
HP:0002463	Language impairment	1781	DYNC1I2	OMIM:618492
HP:0002463	Language impairment	7319	UBE2A	OMIM:300860
HP:0002463	Language impairment	9496	TBX4	ORPHA:261279
HP:0002463	Language impairment	8091	HMGA2	ORPHA:94063
HP:0002463	Language impairment	8091	HMGA2	ORPHA:397590
HP:0002463	Language impairment	23592	LEMD3	ORPHA:94063
HP:0002463	Language impairment	22808	MRAS	OMIM:618499
HP:0002463	Language impairment	26040	SETBP1	OMIM:616078
HP:0002463	Language impairment	8635	RNASET2	OMIM:612951
HP:0002463	Language impairment	91039	DPP9	OMIM:620331
HP:0002463	Language impairment	23594	ORC6	OMIM:613803
HP:0002463	Language impairment	1756	DMD	ORPHA:98896
HP:0002463	Language impairment	8425	LTBP4	ORPHA:98896
HP:0002463	Language impairment	64864	RFX7	OMIM:620330
HP:0002463	Language impairment	80185	TTI2	ORPHA:391307
HP:0002463	Language impairment	80185	TTI2	OMIM:615541
HP:0002463	Language impairment	2628	GATM	OMIM:612718
HP:0002463	Language impairment	10771	ZMYND11	OMIM:616083
HP:0002463	Language impairment	6611	SMS	ORPHA:3063
HP:0002463	Language impairment	7068	THRB	OMIM:188570
HP:0002463	Language impairment	5977	DPF2	OMIM:618027
HP:0002463	Language impairment	35	ACADS	OMIM:201470
HP:0002463	Language impairment	35	ACADS	ORPHA:26792
HP:0002463	Language impairment	10847	SRCAP	OMIM:619595
HP:0002463	Language impairment	10847	SRCAP	ORPHA:2044
HP:0002463	Language impairment	10847	SRCAP	OMIM:136140
HP:0002463	Language impairment	55526	DHTKD1	OMIM:204750
HP:0002463	Language impairment	3839	KPNA3	OMIM:620106
HP:0002463	Language impairment	79005	SCNM1	OMIM:620107
HP:0002463	Language impairment	1605	DAG1	OMIM:613818
HP:0002463	Language impairment	84172	POLR1B	ORPHA:861
HP:0002463	Language impairment	9533	POLR1C	ORPHA:861
HP:0002463	Language impairment	6949	TCOF1	ORPHA:861
HP:0002463	Language impairment	55210	ATAD3A	OMIM:617183
HP:0002463	Language impairment	2077	ERF	OMIM:617180
HP:0002463	Language impairment	2077	ERF	OMIM:600775
HP:0002463	Language impairment	90522	YIF1B	OMIM:619125
HP:0002463	Language impairment	29123	ANKRD11	ORPHA:261250
HP:0002463	Language impairment	6197	RPS6KA3	OMIM:300844
HP:0002463	Language impairment	1200	TPP1	OMIM:204500
HP:0002463	Language impairment	118924	FRA10AC1	OMIM:620113
HP:0002463	Language impairment	2593	GAMT	OMIM:612736
HP:0002463	Language impairment	55252	ASXL2	OMIM:617190
HP:0002463	Language impairment	6904	TBCD	OMIM:617193
HP:0002463	Language impairment	4508	MT-ATP6	ORPHA:225154
HP:0002463	Language impairment	23636	NUP62	ORPHA:225154
HP:0002463	Language impairment	53371	NUP54	ORPHA:225154
HP:0002463	Language impairment	103	ADAR	ORPHA:225154
HP:0002463	Language impairment	3739	KCNA4	OMIM:618284
HP:0002463	Language impairment	23154	NCDN	OMIM:619373
HP:0002463	Language impairment	4781	NFIB	OMIM:618286
HP:0002463	Language impairment	55074	OXR1	OMIM:213000
HP:0002463	Language impairment	11011	TLK2	OMIM:618050
HP:0002463	Language impairment	27161	AGO2	OMIM:619149
HP:0002463	Language impairment	8665	EIF3F	OMIM:618295
HP:0002463	Language impairment	221927	BRAT1	OMIM:618056
HP:0002463	Language impairment	267	AMFR	OMIM:620379
HP:0002463	Language impairment	161742	SPRED1	ORPHA:137605
HP:0002463	Language impairment	64858	DCLRE1B	OMIM:620133
HP:0002463	Language impairment	3480	IGF1R	OMIM:270450
HP:0002463	Language impairment	9325	TRIP4	ORPHA:486815
HP:0002463	Language impairment	90952	ESAM	OMIM:620371
HP:0002463	Language impairment	11113	CIT	OMIM:617090
HP:0002463	Language impairment	4702	NDUFA8	OMIM:619272
HP:0002463	Language impairment	27183	VPS4A	OMIM:619273
HP:0002463	Language impairment	10128	LRPPRC	OMIM:220111
HP:0002463	Language impairment	7337	UBE3A	ORPHA:238446
HP:0002463	Language impairment	58499	ZNF462	ORPHA:502430
HP:0002463	Language impairment	58499	ZNF462	OMIM:618619
HP:0002463	Language impairment	158	ADSL	OMIM:103050
HP:0002463	Language impairment	375	ARF1	OMIM:618185
HP:0002463	Language impairment	23019	CNOT1	OMIM:619033
HP:0002463	Language impairment	55503	TRPV6	OMIM:618188
HP:0002463	Language impairment	775	CACNA1C	OMIM:620029
HP:0002463	Language impairment	7109	TRAPPC10	OMIM:620027
HP:0002463	Language impairment	132158	GLYCTK	ORPHA:941
HP:0002463	Language impairment	501	ALDH7A1	OMIM:266100
HP:0002463	Language impairment	9442	MED27	OMIM:619286
HP:0002463	Language impairment	4649	MYO9A	OMIM:618198
HP:0002463	Language impairment	25914	RTTN	OMIM:614833
HP:0002463	Language impairment	25782	RAB3GAP2	OMIM:212720
HP:0002463	Language impairment	6595	SMARCA2	OMIM:619293
HP:0002463	Language impairment	7102	TSPAN7	OMIM:300210
HP:0002463	Language impairment	57492	ARID1B	OMIM:135900
HP:0002463	Language impairment	116228	COX20	OMIM:619054
HP:0002463	Language impairment	26277	TINF2	OMIM:613990
HP:0002463	Language impairment	9739	SETD1A	OMIM:619056
HP:0002463	Language impairment	340024	SLC6A19	OMIM:234500
HP:0002463	Language impairment	8289	ARID1A	OMIM:614607
HP:0002463	Language impairment	158326	FREM1	ORPHA:3366
HP:0002463	Language impairment	10716	TBR1	OMIM:606053
HP:0002463	Language impairment	26523	AGO1	OMIM:620292
HP:0002463	Language impairment	4697	NDUFA4	OMIM:619065
HP:0002463	Language impairment	5144	PDE4D	OMIM:614613
HP:0002463	Language impairment	10382	TUBB4A	OMIM:612438
HP:0002463	Language impairment	5230	PGK1	ORPHA:713
HP:0002463	Language impairment	5230	PGK1	OMIM:300653
HP:0002463	Language impairment	7915	ALDH5A1	OMIM:271980
HP:0002463	Language impairment	2697	GJA1	OMIM:257850
HP:0002463	Language impairment	2615	LRRC32	OMIM:619074
HP:0002463	Language impairment	4953	ODC1	OMIM:619075
HP:0002463	Language impairment	22859	ADGRL1	OMIM:620065
HP:0002463	Language impairment	6558	SLC12A2	OMIM:619083
HP:0002463	Language impairment	3481	IGF2	ORPHA:397590
HP:0002463	Language impairment	1028	CDKN1C	ORPHA:397590
HP:0002463	Language impairment	5324	PLAG1	ORPHA:397590
HP:0002463	Language impairment	284217	LAMA1	OMIM:615960
HP:0002463	Language impairment	284217	LAMA1	ORPHA:370022
HP:0002463	Language impairment	286262	TPRN	OMIM:613307
HP:0002463	Language impairment	51244	CCDC174	OMIM:616816
HP:0002463	Language impairment	54862	CC2D1A	OMIM:608443
HP:0002463	Language impairment	23065	EMC1	ORPHA:480898
HP:0002463	Language impairment	23065	EMC1	OMIM:616875
HP:0002463	Language impairment	10430	TMEM147	OMIM:620075
HP:0002463	Language impairment	11152	WDR45	OMIM:300894
HP:0002463	Language impairment	22880	MORC2	OMIM:619090
HP:0002463	Language impairment	5295	PIK3R1	OMIM:269880
HP:0002463	Language impairment	4677	NARS1	OMIM:619091
HP:0002463	Language impairment	4677	NARS1	OMIM:619092
HP:0002463	Language impairment	50484	RRM2B	OMIM:268315
HP:0002463	Language impairment	254065	BRWD3	OMIM:300659
HP:0002463	Language impairment	9147	NEMF	OMIM:619099
HP:0002463	Language impairment	1384	CRAT	OMIM:617917
HP:0002463	Language impairment	85021	REPS1	OMIM:617916
HP:0002463	Language impairment	1487	CTBP1	OMIM:617915
HP:0002463	Language impairment	197322	ACSF3	ORPHA:289504
HP:0002463	Language impairment	54413	NLGN3	OMIM:300425
HP:0002463	Language impairment	9775	EIF4A3	OMIM:268305
HP:0002463	Language impairment	93183	PIGM	OMIM:610293
HP:0002463	Language impairment	2703	GJA8	OMIM:612474
HP:0002463	Language impairment	2702	GJA5	OMIM:612474
HP:0002463	Language impairment	867	CBL	OMIM:613563
HP:0002463	Language impairment	29072	SETD2	OMIM:616831
HP:0002463	Language impairment	3897	L1CAM	ORPHA:2466
HP:0002463	Language impairment	51053	GMNN	OMIM:616835
HP:0002463	Language impairment	2719	GPC3	OMIM:312870
HP:0002463	Language impairment	2239	GPC4	OMIM:312870
HP:0002463	Language impairment	27152	INTU	OMIM:617926
HP:0002463	Language impairment	274	BIN1	ORPHA:169186
HP:0002463	Language impairment	10290	SPEG	ORPHA:169186
HP:0002463	Language impairment	6261	RYR1	ORPHA:169186
HP:0002463	Language impairment	7273	TTN	ORPHA:169186
HP:0002463	Language impairment	9158	FIBP	ORPHA:500095
HP:0002463	Language impairment	4683	NBN	OMIM:251260
HP:0002463	Language impairment	9698	PUM1	OMIM:617931
HP:0002463	Language impairment	29926	GMPPA	OMIM:615510
HP:0002463	Language impairment	85358	SHANK3	OMIM:606232
HP:0002463	Language impairment	658	BMPR1B	OMIM:616849
HP:0002463	Language impairment	57511	COG6	ORPHA:363523
HP:0002463	Language impairment	57511	COG6	OMIM:615328
HP:0002463	Language impairment	113179	ADAT3	ORPHA:363528
HP:0002463	Language impairment	55784	MCTP2	ORPHA:1596
HP:0002463	Language impairment	5831	PYCR1	OMIM:614438
HP:0002463	Language impairment	3736	KCNA1	ORPHA:37612
HP:0002463	Language impairment	26224	FBXL3	OMIM:606220
HP:0002463	Language impairment	4204	MECP2	OMIM:300055
HP:0002463	Language impairment	4204	MECP2	OMIM:300496
HP:0002463	Language impairment	10484	SEC23A	ORPHA:50814
HP:0002463	Language impairment	7874	USP7	OMIM:616863
HP:0002463	Language impairment	7874	USP7	ORPHA:500055
HP:0002463	Language impairment	55603	TENT5A	OMIM:617952
HP:0002463	Language impairment	26007	TKFC	OMIM:618805
HP:0002463	Language impairment	27315	PGAP2	OMIM:614207
HP:0002463	Language impairment	64131	XYLT1	OMIM:615777
HP:0002463	Language impairment	5257	PHKB	ORPHA:79240
HP:0002463	Language impairment	128989	TANGO2	ORPHA:480864
HP:0002463	Language impairment	5718	PSMD12	ORPHA:529962
HP:0002463	Language impairment	5718	PSMD12	OMIM:617516
HP:0002463	Language impairment	2186	BPTF	ORPHA:529962
HP:0002463	Language impairment	2186	BPTF	OMIM:617755
HP:0002463	Language impairment	54664	TMEM106B	OMIM:617964
HP:0002463	Language impairment	4287	ATXN3	ORPHA:276238
HP:0002463	Language impairment	4287	ATXN3	ORPHA:276244
HP:0002463	Language impairment	4287	ATXN3	ORPHA:276241
HP:0002463	Language impairment	27010	TPK1	OMIM:614458
HP:0002463	Language impairment	55644	OSGEP	OMIM:617729
HP:0002463	Language impairment	57572	DOCK6	OMIM:614219
HP:0002463	Language impairment	54658	UGT1A1	ORPHA:79234
HP:0002463	Language impairment	7074	TIAM1	OMIM:619908
HP:0002463	Language impairment	2464	FRA16E	OMIM:136570
HP:0002463	Language impairment	112858	TP53RK	OMIM:617730
HP:0002463	Language impairment	2737	GLI3	OMIM:175700
HP:0002463	Language impairment	1778	DYNC1H1	OMIM:614228
HP:0002463	Language impairment	4929	NR4A2	OMIM:619911
HP:0002463	Language impairment	285175	UNC80	ORPHA:371364
HP:0002463	Language impairment	8405	SPOP	OMIM:618828
HP:0002463	Language impairment	8405	SPOP	OMIM:618829
HP:0002463	Language impairment	26576	SRPK3	OMIM:301134
HP:0002463	Language impairment	10585	POMT1	ORPHA:86812
HP:0002463	Language impairment	54870	QRICH1	OMIM:617982
HP:0002463	Language impairment	4780	NFE2L2	OMIM:617744
HP:0002463	Language impairment	2890	GRIA1	OMIM:619927
HP:0002463	Language impairment	54805	CNNM2	OMIM:616418
HP:0002463	Language impairment	5500	PPP1CB	OMIM:617506
HP:0002463	Language impairment	7291	TWIST1	OMIM:617746
HP:0002463	Language impairment	126792	B3GALT6	ORPHA:536467
HP:0002463	Language impairment	57502	NLGN4X	OMIM:300495
HP:0002463	Language impairment	4047	LSS	OMIM:618840
HP:0002463	Language impairment	9320	TRIP12	OMIM:617752
HP:0002463	Language impairment	529	ATP6V1E1	ORPHA:357074
HP:0002463	Language impairment	84631	SLITRK2	OMIM:301107
HP:0002463	Language impairment	51780	KDM3B	OMIM:618846
HP:0002463	Language impairment	8575	PRKRA	OMIM:612067
HP:0002463	Language impairment	5455	POU3F3	OMIM:618604
HP:0002463	Language impairment	119559	SFXN4	OMIM:615578
HP:0002463	Language impairment	9439	MED23	OMIM:614249
HP:0002463	Language impairment	4848	CNOT2	OMIM:618608
HP:0002463	Language impairment	1807	DPYS	OMIM:222748
HP:0002463	Language impairment	2639	GCDH	OMIM:231670
HP:0002463	Language impairment	9203	ZMYM3	OMIM:301111
HP:0002463	Language impairment	23133	PHF8	OMIM:300263
HP:0002463	Language impairment	84706	GPT2	ORPHA:477673
HP:0002463	Language impairment	23404	EXOSC2	OMIM:617763
HP:0002463	Language impairment	1478	CSTF2	OMIM:301116
HP:0002463	Language impairment	22978	NT5C2	OMIM:613162
HP:0002463	Language impairment	7543	ZFX	OMIM:301118
HP:0002463	Language impairment	8738	CRADD	OMIM:614499
HP:0002463	Language impairment	4858	NOVA2	OMIM:618859
HP:0002463	Language impairment	9181	ARHGEF2	OMIM:617523
HP:0002463	Language impairment	547	KIF1A	OMIM:614255
HP:0002463	Language impairment	2582	GALE	OMIM:230350
HP:0002463	Language impairment	2137	EXTL3	ORPHA:508533
HP:0002463	Language impairment	29925	GMPPB	OMIM:615350
HP:0002463	Language impairment	104	ADARB1	OMIM:618862
HP:0002463	Language impairment	55823	VPS11	OMIM:616683
HP:0002463	Language impairment	55823	VPS11	ORPHA:466934
HP:0002463	Language impairment	2775	GNAO1	OMIM:615473
HP:0002463	Language impairment	2775	GNAO1	OMIM:617493
HP:0002463	Language impairment	51569	UFM1	OMIM:617899
HP:0002463	Language impairment	9254	CACNA2D2	OMIM:618501
HP:0002463	Language impairment	7360	UGP2	OMIM:618744
HP:0002463	Language impairment	5927	KDM5A	OMIM:620820
HP:0002463	Language impairment	79848	CSPP1	ORPHA:397715
HP:0002463	Language impairment	9786	KIAA0586	ORPHA:397715
HP:0002463	Language impairment	65993	MRPS34	OMIM:617664
HP:0002463	Language impairment	387787	LIPT2	OMIM:617668
HP:0002463	Language impairment	166378	AFG2A	OMIM:616577
HP:0002463	Language impairment	166378	AFG2A	ORPHA:457351
HP:0002463	Language impairment	65082	VPS33A	OMIM:617303
HP:0002463	Language impairment	65082	VPS33A	ORPHA:505248
HP:0002463	Language impairment	10730	YME1L1	OMIM:617302
HP:0002463	Language impairment	10565	ARFGEF1	OMIM:619964
HP:0002463	Language impairment	5610	EIF2AK2	OMIM:618877
HP:0002463	Language impairment	55768	NGLY1	ORPHA:404454
HP:0002463	Language impairment	3190	HNRNPK	OMIM:616580
HP:0002463	Language impairment	7343	UBTF	OMIM:617672
HP:0002463	Language impairment	7343	UBTF	ORPHA:500180
HP:0002463	Language impairment	150094	SIK1	OMIM:616341
HP:0002463	Language impairment	81857	MED25	ORPHA:464738
HP:0002463	Language impairment	170825	GSX2	OMIM:618646
HP:0002463	Language impairment	7920	ABHD16A	OMIM:619735
HP:0002463	Language impairment	83480	PUS3	ORPHA:488627
HP:0002463	Language impairment	283987	HID1	OMIM:619983
HP:0002463	Language impairment	22884	WDR37	OMIM:618652
HP:0002463	Language impairment	1193	CLIC2	ORPHA:324410
HP:0002463	Language impairment	28514	DLL1	ORPHA:93926
HP:0002463	Language impairment	28514	DLL1	ORPHA:93924
HP:0002463	Language impairment	28514	DLL1	ORPHA:93925
HP:0002463	Language impairment	28514	DLL1	ORPHA:220386
HP:0002463	Language impairment	2253	FGF8	ORPHA:93926
HP:0002463	Language impairment	2253	FGF8	ORPHA:93924
HP:0002463	Language impairment	2253	FGF8	ORPHA:93925
HP:0002463	Language impairment	2253	FGF8	ORPHA:220386
HP:0002463	Language impairment	6496	SIX3	ORPHA:93926
HP:0002463	Language impairment	6496	SIX3	ORPHA:93924
HP:0002463	Language impairment	6496	SIX3	ORPHA:93925
HP:0002463	Language impairment	6496	SIX3	ORPHA:220386
HP:0002463	Language impairment	7050	TGIF1	ORPHA:93926
HP:0002463	Language impairment	7050	TGIF1	ORPHA:93924
HP:0002463	Language impairment	7050	TGIF1	ORPHA:93925
HP:0002463	Language impairment	7050	TGIF1	ORPHA:220386
HP:0002463	Language impairment	4838	NODAL	ORPHA:93926
HP:0002463	Language impairment	4838	NODAL	ORPHA:93924
HP:0002463	Language impairment	4838	NODAL	ORPHA:93925
HP:0002463	Language impairment	4838	NODAL	ORPHA:220386
HP:0002463	Language impairment	6469	SHH	ORPHA:93926
HP:0002463	Language impairment	6469	SHH	ORPHA:93924
HP:0002463	Language impairment	6469	SHH	ORPHA:93925
HP:0002463	Language impairment	6469	SHH	ORPHA:220386
HP:0002463	Language impairment	7546	ZIC2	ORPHA:93926
HP:0002463	Language impairment	7546	ZIC2	ORPHA:93924
HP:0002463	Language impairment	7546	ZIC2	ORPHA:93925
HP:0002463	Language impairment	7546	ZIC2	ORPHA:220386
HP:0002463	Language impairment	6491	STIL	ORPHA:93926
HP:0002463	Language impairment	6491	STIL	ORPHA:93924
HP:0002463	Language impairment	6491	STIL	ORPHA:93925
HP:0002463	Language impairment	6491	STIL	OMIM:612703
HP:0002463	Language impairment	6491	STIL	ORPHA:220386
HP:0002463	Language impairment	2619	GAS1	ORPHA:93926
HP:0002463	Language impairment	2619	GAS1	ORPHA:93924
HP:0002463	Language impairment	2619	GAS1	ORPHA:93925
HP:0002463	Language impairment	2619	GAS1	ORPHA:220386
HP:0002463	Language impairment	84976	DISP1	ORPHA:93926
HP:0002463	Language impairment	84976	DISP1	ORPHA:93924
HP:0002463	Language impairment	84976	DISP1	ORPHA:93925
HP:0002463	Language impairment	84976	DISP1	ORPHA:220386
HP:0002463	Language impairment	2736	GLI2	ORPHA:93926
HP:0002463	Language impairment	2736	GLI2	ORPHA:93924
HP:0002463	Language impairment	2736	GLI2	ORPHA:93925
HP:0002463	Language impairment	2736	GLI2	ORPHA:220386
HP:0002463	Language impairment	8928	FOXH1	ORPHA:93926
HP:0002463	Language impairment	8928	FOXH1	ORPHA:93924
HP:0002463	Language impairment	8928	FOXH1	ORPHA:93925
HP:0002463	Language impairment	8928	FOXH1	ORPHA:220386
HP:0002463	Language impairment	6997	CRIPTO	ORPHA:93926
HP:0002463	Language impairment	6997	CRIPTO	ORPHA:93924
HP:0002463	Language impairment	6997	CRIPTO	ORPHA:93925
HP:0002463	Language impairment	6997	CRIPTO	ORPHA:220386
HP:0002463	Language impairment	5727	PTCH1	ORPHA:93926
HP:0002463	Language impairment	5727	PTCH1	ORPHA:93924
HP:0002463	Language impairment	5727	PTCH1	ORPHA:93925
HP:0002463	Language impairment	5727	PTCH1	ORPHA:220386
HP:0002463	Language impairment	50937	CDON	ORPHA:93926
HP:0002463	Language impairment	50937	CDON	ORPHA:93924
HP:0002463	Language impairment	50937	CDON	ORPHA:93925
HP:0002463	Language impairment	50937	CDON	ORPHA:220386
HP:0002463	Language impairment	23007	PLCH1	ORPHA:93925
HP:0002463	Language impairment	6905	TBCE	OMIM:617207
HP:0002463	Language impairment	55361	PI4K2A	OMIM:620732
HP:0002463	Language impairment	5518	PPP2R1A	OMIM:616362
HP:0002463	Language impairment	5518	PPP2R1A	ORPHA:457284
HP:0002463	Language impairment	84879	MFSD2A	OMIM:616486
HP:0002463	Language impairment	27089	UQCRQ	OMIM:615159
HP:0002463	Language impairment	57282	SLC4A10	OMIM:620746
HP:0002463	Language impairment	4191	MDH2	OMIM:617339
HP:0002463	Language impairment	54828	BCAS3	OMIM:619641
HP:0002463	Language impairment	3800	KIF5C	OMIM:615282
HP:0002463	Language impairment	122961	ISCA2	OMIM:616370
HP:0002463	Language impairment	253959	RALGAPA1	OMIM:618797
HP:0002463	Language impairment	2904	GRIN2B	OMIM:616139
HP:0002463	Language impairment	9562	MINPP1	OMIM:619527
HP:0002463	Language impairment	6925	TCF4	OMIM:610954
HP:0002463	Language impairment	6925	TCF4	ORPHA:2896
HP:0002463	Language impairment	2258	FGF13	OMIM:301095
HP:0002463	Language impairment	57192	MCOLN1	ORPHA:578
HP:0002463	Language impairment	57192	MCOLN1	OMIM:252650
HP:0002463	Language impairment	10667	FARS2	ORPHA:466722
HP:0002463	Language impairment	23556	PIGN	OMIM:614080
HP:0002463	Language impairment	9922	IQSEC1	OMIM:618687
HP:0002463	Language impairment	284098	PIGW	OMIM:616025
HP:0002463	Language impairment	388662	SLC6A17	OMIM:616269
HP:0002463	Language impairment	7994	KAT6A	OMIM:616268
HP:0002463	Language impairment	51227	PIGP	OMIM:617599
HP:0002463	Language impairment	23499	MACF1	OMIM:618325
HP:0002463	Language impairment	51645	PPIL1	OMIM:619301
HP:0002463	Language impairment	58497	PRUNE1	OMIM:617481
HP:0002463	Language impairment	58497	PRUNE1	ORPHA:544469
HP:0002463	Language impairment	26173	INTS1	OMIM:618571
HP:0002463	Language impairment	55656	INTS8	OMIM:618572
HP:0002463	Language impairment	3658	IREB2	OMIM:618451
HP:0002463	Language impairment	51693	TRAPPC2L	OMIM:618331
HP:0002463	Language impairment	6857	SYT1	OMIM:618218
HP:0002463	Language impairment	6857	SYT1	ORPHA:522077
HP:0002463	Language impairment	81603	TRIM8	OMIM:619428
HP:0002463	Language impairment	5277	PIGA	OMIM:301072
HP:0002463	Language impairment	5277	PIGA	OMIM:300868
HP:0002463	Language impairment	11160	ERLIN2	ORPHA:280384
HP:0002463	Language impairment	11160	ERLIN2	ORPHA:209951
HP:0002463	Language impairment	11160	ERLIN2	OMIM:611225
HP:0002463	Language impairment	10059	DNM1L	ORPHA:330050
HP:0002463	Language impairment	8925	HERC1	OMIM:617011
HP:0002463	Language impairment	8925	HERC1	ORPHA:457359
HP:0002463	Language impairment	84894	LINGO1	OMIM:618103
HP:0002463	Language impairment	56896	DPYSL5	OMIM:619435
HP:0002463	Language impairment	54892	NCAPG2	OMIM:618460
HP:0002463	Language impairment	23516	SLC39A14	OMIM:617013
HP:0002463	Language impairment	8573	CASK	OMIM:300749
HP:0002463	Language impairment	8573	CASK	ORPHA:163937
HP:0002463	Language impairment	92335	STRADA	ORPHA:500533
HP:0002463	Language impairment	92335	STRADA	OMIM:611087
HP:0002463	Language impairment	8818	DPM2	ORPHA:329178
HP:0002463	Language impairment	9526	MPDU1	OMIM:609180
HP:0002463	Language impairment	10733	PLK4	OMIM:616171
HP:0002463	Language impairment	11277	TREX1	OMIM:225750
HP:0002463	Language impairment	57520	HECW2	OMIM:617268
HP:0002463	Language impairment	4081	MAB21L1	OMIM:618479
HP:0002463	Language impairment	25885	POLR1A	OMIM:620675
HP:0002463	Language impairment	154881	KCTD7	OMIM:611726
HP:0002463	Language impairment	29954	POMT2	OMIM:236670
HP:0002463	Language impairment	79147	FKRP	OMIM:236670
HP:0002463	Language impairment	9215	LARGE1	OMIM:236670
HP:0002463	Language impairment	8869	ST3GAL5	OMIM:609056
HP:0002463	Language impairment	56915	EXOSC5	OMIM:619576
HP:0002463	Language impairment	23221	RHOBTB2	OMIM:618004
HP:0002463	Language impairment	112939	NACC1	OMIM:617393
HP:0002463	Language impairment	55572	FOXRED1	OMIM:618241
HP:0002463	Language impairment	7965	AIMP2	OMIM:618006
HP:0002463	Language impairment	3376	IARS1	ORPHA:541423
HP:0002463	Language impairment	3376	IARS1	OMIM:617093
HP:0002463	Language impairment	29920	PYCR2	ORPHA:481152
HP:0002463	Language impairment	29920	PYCR2	OMIM:616420
HP:0002463	Language impairment	51608	GET4	OMIM:620200
HP:0002463	Language impairment	8604	SLC25A12	OMIM:612949
HP:0002463	Language impairment	6821	SUOX	OMIM:272300
HP:0002463	Language impairment	7703	PCGF2	OMIM:618371
HP:0002463	Language impairment	23258	DENND5A	OMIM:617281
HP:0002463	Language impairment	389856	USP27X	OMIM:300984
HP:0002463	Language impairment	1822	ATN1	OMIM:618494
HP:0002463	Language impairment	3188	HNRNPH2	OMIM:300986
HP:0002463	Language impairment	5281	PIGF	OMIM:619356
HP:0002463	Language impairment	57003	CCDC47	OMIM:618268
HP:0002463	Language impairment	94005	PIGS	OMIM:618143
HP:0002463	Language impairment	10682	EBP	OMIM:300960
HP:0002463	Language impairment	22983	MAST1	OMIM:618273
HP:0002463	Language impairment	23287	AGTPBP1	OMIM:618276
HP:0002463	Language impairment	79143	MBOAT7	OMIM:617188
HP:0002463	Language impairment	57038	RARS2	OMIM:611523
HP:0002463	Language impairment	498	ATP5F1A	OMIM:620358
HP:0002463	Language impairment	8911	CACNA1I	OMIM:620114
HP:0002463	Language impairment	10479	SLC9A6	ORPHA:85278
HP:0002463	Language impairment	10479	SLC9A6	OMIM:300243
HP:0002463	Language impairment	777	CACNA1E	OMIM:618285
HP:0002463	Language impairment	55835	CPAP	OMIM:608393
HP:0002463	Language impairment	55005	RMND1	OMIM:614922
HP:0002463	Language impairment	25913	POT1	OMIM:620368
HP:0002463	Language impairment	84081	NSRP1	OMIM:620001
HP:0002463	Language impairment	124454	EARS2	OMIM:614924
HP:0002463	Language impairment	1795	DOCK3	OMIM:618292
HP:0002463	Language impairment	60684	TRAPPC11	ORPHA:369840
HP:0002463	Language impairment	3735	KARS1	OMIM:619147
HP:0002463	Language impairment	3735	KARS1	ORPHA:3240
HP:0002463	Language impairment	27072	VPS41	OMIM:619389
HP:0002463	Language impairment	56947	MFF	OMIM:617086
HP:0002463	Language impairment	1496	CTNNA2	OMIM:618174
HP:0002463	Language impairment	87178	PNPT1	OMIM:614932
HP:0002463	Language impairment	87178	PNPT1	ORPHA:319514
HP:0002463	Language impairment	199857	ALG14	OMIM:619031
HP:0002463	Language impairment	1183	CLCN4	OMIM:300114
HP:0002463	Language impairment	347734	SLC35B2	OMIM:620269
HP:0002463	Language impairment	55325	UFSP2	OMIM:620028
HP:0002463	Language impairment	1119	CHKA	OMIM:620023
HP:0002463	Language impairment	8496	PPFIBP1	OMIM:620024
HP:0002463	Language impairment	4983	OPHN1	OMIM:300486
HP:0002463	Language impairment	6531	SLC6A3	ORPHA:238455
HP:0002463	Language impairment	89910	UBE3B	OMIM:244450
HP:0002463	Language impairment	51506	UFC1	OMIM:618076
HP:0002463	Language impairment	5689	PSMB1	OMIM:620038
HP:0002463	Language impairment	57582	KCNT1	OMIM:614959
HP:0002463	Language impairment	271	AMPD2	OMIM:615809
HP:0002463	Language impairment	56992	KIF15	ORPHA:261323
HP:0002463	Language impairment	64207	IRF2BPL	OMIM:618088
HP:0002463	Language impairment	5119	CHMP1A	OMIM:614961
HP:0002463	Language impairment	55157	DARS2	ORPHA:137898
HP:0002463	Language impairment	114034	TOE1	OMIM:614969
HP:0002463	Language impairment	894	CCND2	OMIM:615938
HP:0002463	Language impairment	6597	SMARCA4	OMIM:614609
HP:0002463	Language impairment	6597	SMARCA4	ORPHA:1465
HP:0002463	Language impairment	23116	TOGARAM1	OMIM:619185
HP:0002463	Language impairment	79583	TMEM231	OMIM:614970
HP:0002463	Language impairment	10352	WARS2	ORPHA:572798
HP:0002463	Language impairment	10352	WARS2	OMIM:617710
HP:0002463	Language impairment	26005	C2CD3	OMIM:615948
HP:0002463	Language impairment	84947	SERAC1	OMIM:614739
HP:0002463	Language impairment	7025	NR2F1	ORPHA:401777
HP:0002463	Language impairment	9255	AIMP1	OMIM:260600
HP:0002463	Language impairment	54499	TMCO1	OMIM:213980
HP:0002463	Language impairment	93210	PGAP3	OMIM:615716
HP:0002463	Language impairment	83475	DOHH	OMIM:620066
HP:0002463	Language impairment	51611	DPH5	OMIM:620070
HP:0002463	Language impairment	5700	PSMC1	OMIM:620071
HP:0002463	Language impairment	440138	ALG11	OMIM:613661
HP:0002463	Language impairment	64135	IFIH1	OMIM:615846
HP:0002463	Language impairment	6605	SMARCE1	OMIM:616938
HP:0002463	Language impairment	6605	SMARCE1	ORPHA:1465
HP:0002463	Language impairment	55691	FRMD4A	OMIM:616819
HP:0002463	Language impairment	55691	FRMD4A	ORPHA:466688
HP:0002463	Language impairment	3187	HNRNPH1	OMIM:620083
HP:0002463	Language impairment	7355	SLC35A2	OMIM:300896
HP:0002463	Language impairment	50628	GEMIN4	OMIM:617913
HP:0002463	Language impairment	85440	DOCK7	OMIM:615859
HP:0002463	Language impairment	7407	VARS1	OMIM:617802
HP:0002463	Language impairment	9894	TELO2	OMIM:616954
HP:0002463	Language impairment	9894	TELO2	ORPHA:488642
HP:0002463	Language impairment	9230	RAB11B	OMIM:617807
HP:0002463	Language impairment	51807	TUBA8	ORPHA:250972
HP:0002463	Language impairment	22845	DOLK	ORPHA:91131
HP:0002463	Language impairment	79587	CARS2	ORPHA:477774
HP:0002463	Language impairment	84162	BLTP1	OMIM:617822
HP:0002463	Language impairment	2902	GRIN1	OMIM:617820
HP:0002463	Language impairment	2902	GRIN1	OMIM:614254
HP:0002463	Language impairment	7280	TUBB2A	OMIM:615763
HP:0002463	Language impairment	998	CDC42	OMIM:616737
HP:0002463	Language impairment	998	CDC42	ORPHA:487796
HP:0002463	Language impairment	51010	EXOSC3	OMIM:614678
HP:0002463	Language impairment	9512	PMPCB	OMIM:617954
HP:0002463	Language impairment	6598	SMARCB1	ORPHA:1465
HP:0002463	Language impairment	6664	SOX11	ORPHA:1465
HP:0002463	Language impairment	51185	CRBN	OMIM:607417
HP:0002463	Language impairment	84342	COG8	OMIM:611182
HP:0002463	Language impairment	55969	RAB5IF	OMIM:616994
HP:0002463	Language impairment	51501	HIKESHI	OMIM:616881
HP:0002463	Language impairment	55180	LINS1	OMIM:614340
HP:0002463	Language impairment	22931	RAB18	OMIM:614222
HP:0002463	Language impairment	56270	WDR45B	OMIM:617977
HP:0002463	Language impairment	6182	MRPL12	OMIM:618951
HP:0002463	Language impairment	200894	ARL13B	OMIM:612291
HP:0002463	Language impairment	122553	TRAPPC6B	OMIM:617862
HP:0002463	Language impairment	9918	NCAPD2	OMIM:617983
HP:0002463	Language impairment	57688	ZSWIM6	OMIM:617865
HP:0002463	Language impairment	2893	GRIA4	OMIM:617864
HP:0002463	Language impairment	79867	TCTN2	OMIM:616654
HP:0002463	Language impairment	55704	CCDC88A	OMIM:617507
HP:0002463	Language impairment	55164	SHQ1	OMIM:619922
HP:0002463	Language impairment	3756	KCNH1	ORPHA:420561
HP:0002463	Language impairment	51	ACOX1	OMIM:618960
HP:0002463	Language impairment	5879	RAC1	OMIM:617751
HP:0002463	Language impairment	5879	RAC1	ORPHA:500159
HP:0002463	Language impairment	9197	SLC33A1	OMIM:614482
HP:0002463	Language impairment	57731	SPTBN4	OMIM:617519
HP:0002463	Language impairment	57194	ATP10A	ORPHA:411515
HP:0002463	Language impairment	9990	SLC12A6	OMIM:218000
HP:0002463	Language impairment	57459	GATAD2B	OMIM:615074
HP:0002463	Language impairment	3975	LHX1	ORPHA:261265
HP:0002463	Language impairment	6928	HNF1B	ORPHA:261265
HP:0002463	Language impairment	5663	PSEN1	OMIM:172700
HP:0002463	Language impairment	5663	PSEN1	OMIM:600274
HP:0002463	Language impairment	5663	PSEN1	ORPHA:1020
HP:0002463	Language impairment	4137	MAPT	OMIM:172700
HP:0002463	Language impairment	4137	MAPT	OMIM:600274
HP:0002463	Language impairment	79853	TM4SF20	OMIM:615432
HP:0002463	Language impairment	9289	ADGRG1	OMIM:615752
HP:0002463	Language impairment	9289	ADGRG1	ORPHA:98889
HP:0002463	Language impairment	9289	ADGRG1	ORPHA:101070
HP:0002463	Language impairment	6775	STAT4	ORPHA:93552
HP:0002463	Language impairment	6696	SPP1	ORPHA:93552
HP:0002463	Language impairment	6303	SAT1	ORPHA:93552
HP:0002463	Language impairment	3654	IRAK1	ORPHA:93552
HP:0002463	Language impairment	5297	PI4KA	ORPHA:98889
HP:0002463	Language impairment	27286	SRPX2	ORPHA:98889
HP:0002463	Language impairment	2705	GJB1	ORPHA:101075
HP:0002463	Language impairment	5728	PTEN	ORPHA:101070
HP:0002463	Language impairment	5631	PRPS1	ORPHA:99014
HP:0002463	Language impairment	7314	UBB	ORPHA:101023
HP:0002463	Language impairment	57822	GRHL3	ORPHA:101023
HP:0002463	Language impairment	79813	EHMT1	ORPHA:261652
HP:0002463	Language impairment	58508	KMT2C	ORPHA:261652
HP:0002463	Language impairment	613	BCR	ORPHA:261330
HP:0002463	Language impairment	1399	CRKL	ORPHA:261330
HP:0002463	Language impairment	5594	MAPK1	ORPHA:261330
HP:0002463	Language impairment	5575	PRKAR1B	ORPHA:412066
HP:0002463	Language impairment	3178	HNRNPA1	ORPHA:52430
HP:0002463	Language impairment	3178	HNRNPA1	ORPHA:803
HP:0002463	Language impairment	7415	VCP	ORPHA:52430
HP:0002463	Language impairment	7415	VCP	ORPHA:803
HP:0002463	Language impairment	3181	HNRNPA2B1	ORPHA:52430
HP:0002463	Language impairment	4854	NOTCH3	ORPHA:136
HP:0002463	Language impairment	55777	MBD5	OMIM:156200
HP:0002463	Language impairment	27086	FOXP1	OMIM:613670
HP:0002463	Language impairment	26047	CNTNAP2	OMIM:610042
HP:0002463	Language impairment	8831	SYNGAP1	OMIM:612621
HP:0002463	Language impairment	201163	FLCN	OMIM:610883
HP:0002463	Language impairment	5664	PSEN2	ORPHA:1020
HP:0002463	Language impairment	10452	TOMM40	ORPHA:1020
HP:0002463	Language impairment	351	APP	ORPHA:1020
HP:0002463	Language impairment	54209	TREM2	ORPHA:1020
HP:0002463	Language impairment	54209	TREM2	ORPHA:803
HP:0002463	Language impairment	10347	ABCA7	ORPHA:1020
HP:0002463	Language impairment	6653	SORL1	ORPHA:1020
HP:0002463	Language impairment	10295	BCKDK	OMIM:614923
HP:0002463	Language impairment	5048	PAFAH1B1	ORPHA:95232
HP:0002463	Language impairment	25978	CHMP2B	ORPHA:803
HP:0002463	Language impairment	8148	TAF15	ORPHA:803
HP:0002463	Language impairment	5445	PON2	ORPHA:803
HP:0002463	Language impairment	9217	VAPB	ORPHA:803
HP:0002463	Language impairment	8878	SQSTM1	ORPHA:803
HP:0002463	Language impairment	8878	SQSTM1	OMIM:616437
HP:0002463	Language impairment	5630	PRPH	ORPHA:803
HP:0002463	Language impairment	29110	TBK1	ORPHA:803
HP:0002463	Language impairment	29110	TBK1	OMIM:616439
HP:0002463	Language impairment	55830	GLT8D1	ORPHA:803
HP:0002463	Language impairment	755	CFAP410	ORPHA:803
HP:0002463	Language impairment	10891	PPARGC1A	ORPHA:803
HP:0002463	Language impairment	6647	SOD1	ORPHA:803
HP:0002463	Language impairment	10133	OPTN	ORPHA:803
HP:0002463	Language impairment	1639	DCTN1	ORPHA:803
HP:0002463	Language impairment	9896	FIG4	ORPHA:803
HP:0002463	Language impairment	5444	PON1	ORPHA:803
HP:0002463	Language impairment	5446	PON3	ORPHA:803
HP:0002463	Language impairment	4744	NEFH	ORPHA:803
HP:0002463	Language impairment	5216	PFN1	ORPHA:803
HP:0002463	Language impairment	9782	MATR3	ORPHA:803
HP:0002463	Language impairment	283	ANG	ORPHA:803
HP:0002463	Language impairment	23435	TARDBP	ORPHA:803
HP:0002463	Language impairment	29978	UBQLN2	ORPHA:803
HP:0002463	Language impairment	2733	GLE1	ORPHA:803
HP:0002463	Language impairment	2521	FUS	ORPHA:803
HP:0002463	Language impairment	4750	NEK1	ORPHA:803
HP:0002463	Language impairment	6311	ATXN2	ORPHA:803
HP:0002463	Language impairment	1610	DAO	ORPHA:803
HP:0002463	Language impairment	2066	ERBB4	ORPHA:803
HP:0002463	Language impairment	311	ANXA11	ORPHA:803
HP:0002463	Language impairment	23025	UNC13A	ORPHA:803
HP:0002463	Language impairment	899	CCNF	ORPHA:803
HP:0002463	Language impairment	400916	CHCHD10	ORPHA:803
HP:0002463	Language impairment	773	CACNA1A	ORPHA:569
HP:0002463	Language impairment	112476	PRRT2	ORPHA:569
HP:0002463	Language impairment	6323	SCN1A	ORPHA:569
HP:0002463	Language impairment	477	ATP1A2	ORPHA:569
HP:0002463	Language impairment	22	ABCB7	OMIM:301310
HP:0002463	Language impairment	1641	DCX	ORPHA:2148
HP:0002463	Language impairment	2903	GRIN2A	ORPHA:98818
HP:0002463	Language impairment	4763	NF1	ORPHA:97685
HP:0002463	Language impairment	79158	GNPTAB	ORPHA:576
HP:0002463	Language impairment	8565	YARS1	OMIM:619418
HP:0002463	Language impairment	6389	SDHA	ORPHA:3208
HP:0002463	Language impairment	6392	SDHD	ORPHA:3208
HP:0002463	Language impairment	644096	SDHAF1	ORPHA:3208
HP:0002463	Language impairment	6329	SCN4A	OMIM:620369
HP:0002463	Language impairment	6329	SCN4A	OMIM:620351
HP:0002463	Language impairment	10020	GNE	ORPHA:3166
HP:0002463	Language impairment	7138	TNNT1	OMIM:620389
HP:0002463	Language impairment	22827	PUF60	ORPHA:508488
HP:0002463	Language impairment	6472	SHMT2	OMIM:619121
HP:0002463	Language impairment	5910	RAP1GDS1	OMIM:620655
HP:0002463	Language impairment	55186	SLC25A36	OMIM:620211
HP:0002463	Language impairment	171023	ASXL1	ORPHA:97297
HP:0002463	Language impairment	2896	GRN	ORPHA:100070
HP:0002463	Language impairment	3064	HTT	ORPHA:399
HP:0002463	Language impairment	6515	SLC2A3	ORPHA:399
HP:0002463	Language impairment	4692	NDN	ORPHA:177904
HP:0002463	Language impairment	4692	NDN	ORPHA:177901
HP:0002463	Language impairment	4948	OCA2	ORPHA:177904
HP:0002463	Language impairment	4948	OCA2	ORPHA:177901
HP:0002463	Language impairment	5332	PLCB4	OMIM:614669
HP:0002463	Language impairment	23732	FRRS1L	ORPHA:725
HP:0002463	Language impairment	4089	SMAD4	OMIM:139210
HP:0002463	Language impairment	2773	GNAI3	OMIM:602483
HP:0002463	Language impairment	7840	ALMS1	ORPHA:64
HP:0002464	Spastic dysarthria	25782	RAB3GAP2	ORPHA:401830
HP:0002464	Spastic dysarthria	5621	PRNP	ORPHA:282166
HP:0002464	Spastic dysarthria	10717	AP4B1	ORPHA:280763
HP:0002464	Spastic dysarthria	9179	AP4M1	ORPHA:280763
HP:0002464	Spastic dysarthria	11154	AP4S1	ORPHA:280763
HP:0002464	Spastic dysarthria	23431	AP4E1	ORPHA:280763
HP:0002464	Spastic dysarthria	87178	PNPT1	ORPHA:101111
HP:0002464	Spastic dysarthria	4099	MAG	OMIM:616680
HP:0002464	Spastic dysarthria	57679	ALS2	OMIM:205100
HP:0002464	Spastic dysarthria	57679	ALS2	OMIM:606353
HP:0002464	Spastic dysarthria	57679	ALS2	ORPHA:247604
HP:0002464	Spastic dysarthria	4137	MAPT	ORPHA:240094
HP:0002464	Spastic dysarthria	57704	GBA2	ORPHA:352641
HP:0002464	Spastic dysarthria	57704	GBA2	ORPHA:320391
HP:0002464	Spastic dysarthria	55775	TDP1	ORPHA:94124
HP:0002464	Spastic dysarthria	5190	PEX6	ORPHA:95433
HP:0002464	Spastic dysarthria	92935	MARS2	ORPHA:314603
HP:0002464	Spastic dysarthria	5832	ALDH18A1	ORPHA:447757
HP:0002464	Spastic dysarthria	5832	ALDH18A1	ORPHA:447753
HP:0002464	Spastic dysarthria	11160	ERLIN2	ORPHA:247604
HP:0002464	Spastic dysarthria	10939	AFG3L2	ORPHA:313772
HP:0002464	Spastic dysarthria	6843	VAMP1	ORPHA:251282
HP:0002464	Spastic dysarthria	11128	POLR3A	ORPHA:447896
HP:0002464	Spastic dysarthria	724066	ATXN8	ORPHA:98760
HP:0002464	Spastic dysarthria	6315	ATXN8OS	ORPHA:98760
HP:0002464	Spastic dysarthria	23111	SPART	ORPHA:101000
HP:0002464	Spastic dysarthria	51218	GLRX5	ORPHA:401866
HP:0002464	Spastic dysarthria	6687	SPG7	ORPHA:35689
HP:0002464	Spastic dysarthria	2705	GJB1	ORPHA:1175
HP:0002464	Spastic dysarthria	492	ATP2B3	ORPHA:314978
HP:0002465	Poor speech	8243	SMC1A	OMIM:300590
HP:0002465	Poor speech	8243	SMC1A	ORPHA:220386
HP:0002465	Poor speech	353116	RILPL1	OMIM:619790
HP:0002465	Poor speech	11253	MAN1B1	ORPHA:397941
HP:0002465	Poor speech	57459	GATAD2B	OMIM:615074
HP:0002465	Poor speech	57459	GATAD2B	ORPHA:363686
HP:0002465	Poor speech	1859	DYRK1A	ORPHA:268261
HP:0002465	Poor speech	22856	CHSY1	ORPHA:363417
HP:0002465	Poor speech	55823	VPS11	OMIM:616683
HP:0002465	Poor speech	55823	VPS11	ORPHA:466934
HP:0002465	Poor speech	2132	EXT2	OMIM:616682
HP:0002465	Poor speech	51126	NAA20	OMIM:619717
HP:0002465	Poor speech	132	ADK	OMIM:614300
HP:0002465	Poor speech	60684	TRAPPC11	OMIM:615356
HP:0002465	Poor speech	4719	NDUFS1	OMIM:618226
HP:0002465	Poor speech	25821	MTO1	OMIM:614702
HP:0002465	Poor speech	6418	SET	OMIM:618106
HP:0002465	Poor speech	7109	TRAPPC10	OMIM:620027
HP:0002465	Poor speech	253738	EBF3	ORPHA:96148
HP:0002465	Poor speech	84942	WDR73	OMIM:251300
HP:0002465	Poor speech	79796	ALG9	OMIM:608776
HP:0002465	Poor speech	5279	PIGC	OMIM:617816
HP:0002465	Poor speech	3190	HNRNPK	ORPHA:453504
HP:0002465	Poor speech	3190	HNRNPK	OMIM:616580
HP:0002465	Poor speech	3190	HNRNPK	ORPHA:352665
HP:0002465	Poor speech	1120	CHKB	OMIM:602541
HP:0002465	Poor speech	57165	GJC2	OMIM:608804
HP:0002465	Poor speech	7707	ZNF148	OMIM:617260
HP:0002465	Poor speech	2593	GAMT	ORPHA:382
HP:0002465	Poor speech	2972	BRF1	ORPHA:444072
HP:0002465	Poor speech	6873	TAF2	ORPHA:397951
HP:0002465	Poor speech	1436	CSF1R	OMIM:618476
HP:0002465	Poor speech	6616	SNAP25	OMIM:616330
HP:0002465	Poor speech	443	ASPA	ORPHA:314918
HP:0002465	Poor speech	790	CAD	OMIM:616457
HP:0002465	Poor speech	4953	ODC1	ORPHA:544488
HP:0002465	Poor speech	10730	YME1L1	OMIM:617302
HP:0002465	Poor speech	25914	RTTN	OMIM:614833
HP:0002465	Poor speech	25914	RTTN	ORPHA:468631
HP:0002465	Poor speech	84197	POMK	OMIM:615249
HP:0002465	Poor speech	56623	INPP5E	ORPHA:75858
HP:0002465	Poor speech	11152	WDR45	ORPHA:329284
HP:0002465	Poor speech	11152	WDR45	OMIM:300894
HP:0002465	Poor speech	55768	NGLY1	ORPHA:404454
HP:0002465	Poor speech	526	ATP6V1B2	ORPHA:79499
HP:0002465	Poor speech	9126	SMC3	OMIM:610759
HP:0002465	Poor speech	26224	FBXL3	OMIM:606220
HP:0002465	Poor speech	6904	TBCD	ORPHA:496641
HP:0002465	Poor speech	90161	HS6ST2	OMIM:301025
HP:0002465	Poor speech	79158	GNPTAB	ORPHA:576
HP:0002465	Poor speech	29925	GMPPB	ORPHA:370968
HP:0002465	Poor speech	79147	FKRP	ORPHA:370968
HP:0002465	Poor speech	29954	POMT2	ORPHA:370968
HP:0002465	Poor speech	9215	LARGE1	ORPHA:370968
HP:0002465	Poor speech	10585	POMT1	ORPHA:370968
HP:0002465	Poor speech	7337	UBE3A	ORPHA:98794
HP:0002465	Poor speech	7337	UBE3A	ORPHA:98795
HP:0002465	Poor speech	7337	UBE3A	ORPHA:411515
HP:0002465	Poor speech	4948	OCA2	ORPHA:98794
HP:0002465	Poor speech	10559	SLC35A1	OMIM:603585
HP:0002465	Poor speech	56992	KIF15	ORPHA:261323
HP:0002465	Poor speech	51132	RLIM	OMIM:300978
HP:0002465	Poor speech	818	CAMK2G	OMIM:618522
HP:0002465	Poor speech	51116	MRPS2	OMIM:617950
HP:0002465	Poor speech	55572	FOXRED1	OMIM:618241
HP:0002465	Poor speech	80224	NUBPL	OMIM:618242
HP:0002465	Poor speech	8831	SYNGAP1	ORPHA:544254
HP:0002465	Poor speech	5119	CHMP1A	OMIM:614961
HP:0002465	Poor speech	1757	SARDH	ORPHA:3129
HP:0002465	Poor speech	10381	TUBB3	ORPHA:300570
HP:0002465	Poor speech	7436	VLDLR	OMIM:224050
HP:0002465	Poor speech	7994	KAT6A	ORPHA:457193
HP:0002465	Poor speech	81857	MED25	ORPHA:464738
HP:0002465	Poor speech	93986	FOXP2	ORPHA:209908
HP:0002465	Poor speech	51079	NDUFA13	OMIM:618249
HP:0002465	Poor speech	93627	TBCK	OMIM:616900
HP:0002465	Poor speech	4137	MAPT	ORPHA:240112
HP:0002465	Poor speech	4137	MAPT	ORPHA:275864
HP:0002465	Poor speech	29920	PYCR2	ORPHA:481152
HP:0002465	Poor speech	116442	RAB39B	OMIM:311510
HP:0002465	Poor speech	259232	NALCN	OMIM:615419
HP:0002465	Poor speech	23389	MED13L	ORPHA:369891
HP:0002465	Poor speech	23389	MED13L	OMIM:616789
HP:0002465	Poor speech	83480	PUS3	ORPHA:488627
HP:0002465	Poor speech	2626	GATA4	ORPHA:251071
HP:0002465	Poor speech	56776	FMN2	OMIM:616193
HP:0002465	Poor speech	7319	UBE2A	OMIM:300860
HP:0002465	Poor speech	7319	UBE2A	ORPHA:163956
HP:0002465	Poor speech	1605	DAG1	ORPHA:280333
HP:0002465	Poor speech	9839	ZEB2	ORPHA:261552
HP:0002465	Poor speech	9839	ZEB2	ORPHA:261537
HP:0002465	Poor speech	1193	CLIC2	ORPHA:324410
HP:0002465	Poor speech	10297	APC2	OMIM:617169
HP:0002465	Poor speech	5283	PIGH	OMIM:618010
HP:0002465	Poor speech	4700	NDUFA6	OMIM:618253
HP:0002465	Poor speech	2257	FGF12	OMIM:617166
HP:0002465	Poor speech	3340	NDST1	OMIM:616116
HP:0002465	Poor speech	23152	CIC	OMIM:617600
HP:0002465	Poor speech	1729	DIAPH1	OMIM:616632
HP:0002465	Poor speech	84342	COG8	ORPHA:95428
HP:0002465	Poor speech	28514	DLL1	ORPHA:93926
HP:0002465	Poor speech	28514	DLL1	ORPHA:93924
HP:0002465	Poor speech	28514	DLL1	ORPHA:93925
HP:0002465	Poor speech	28514	DLL1	ORPHA:220386
HP:0002465	Poor speech	2253	FGF8	ORPHA:93926
HP:0002465	Poor speech	2253	FGF8	ORPHA:93924
HP:0002465	Poor speech	2253	FGF8	ORPHA:93925
HP:0002465	Poor speech	2253	FGF8	ORPHA:220386
HP:0002465	Poor speech	6496	SIX3	ORPHA:93926
HP:0002465	Poor speech	6496	SIX3	ORPHA:93924
HP:0002465	Poor speech	6496	SIX3	ORPHA:93925
HP:0002465	Poor speech	6496	SIX3	ORPHA:220386
HP:0002465	Poor speech	7050	TGIF1	ORPHA:93926
HP:0002465	Poor speech	7050	TGIF1	ORPHA:93924
HP:0002465	Poor speech	7050	TGIF1	ORPHA:93925
HP:0002465	Poor speech	7050	TGIF1	ORPHA:220386
HP:0002465	Poor speech	4838	NODAL	ORPHA:93926
HP:0002465	Poor speech	4838	NODAL	ORPHA:93924
HP:0002465	Poor speech	4838	NODAL	ORPHA:93925
HP:0002465	Poor speech	4838	NODAL	ORPHA:220386
HP:0002465	Poor speech	6469	SHH	ORPHA:93926
HP:0002465	Poor speech	6469	SHH	ORPHA:93924
HP:0002465	Poor speech	6469	SHH	ORPHA:93925
HP:0002465	Poor speech	6469	SHH	ORPHA:220386
HP:0002465	Poor speech	7546	ZIC2	ORPHA:93926
HP:0002465	Poor speech	7546	ZIC2	ORPHA:93924
HP:0002465	Poor speech	7546	ZIC2	ORPHA:93925
HP:0002465	Poor speech	7546	ZIC2	ORPHA:220386
HP:0002465	Poor speech	6491	STIL	ORPHA:93926
HP:0002465	Poor speech	6491	STIL	ORPHA:93924
HP:0002465	Poor speech	6491	STIL	ORPHA:93925
HP:0002465	Poor speech	6491	STIL	ORPHA:220386
HP:0002465	Poor speech	2619	GAS1	ORPHA:93926
HP:0002465	Poor speech	2619	GAS1	ORPHA:93924
HP:0002465	Poor speech	2619	GAS1	ORPHA:93925
HP:0002465	Poor speech	2619	GAS1	ORPHA:220386
HP:0002465	Poor speech	84976	DISP1	ORPHA:93926
HP:0002465	Poor speech	84976	DISP1	ORPHA:93924
HP:0002465	Poor speech	84976	DISP1	ORPHA:93925
HP:0002465	Poor speech	84976	DISP1	ORPHA:220386
HP:0002465	Poor speech	2736	GLI2	ORPHA:93926
HP:0002465	Poor speech	2736	GLI2	ORPHA:93924
HP:0002465	Poor speech	2736	GLI2	ORPHA:93925
HP:0002465	Poor speech	2736	GLI2	ORPHA:220386
HP:0002465	Poor speech	8928	FOXH1	ORPHA:93926
HP:0002465	Poor speech	8928	FOXH1	ORPHA:93924
HP:0002465	Poor speech	8928	FOXH1	ORPHA:93925
HP:0002465	Poor speech	8928	FOXH1	ORPHA:220386
HP:0002465	Poor speech	6997	CRIPTO	ORPHA:93926
HP:0002465	Poor speech	6997	CRIPTO	ORPHA:93924
HP:0002465	Poor speech	6997	CRIPTO	ORPHA:93925
HP:0002465	Poor speech	6997	CRIPTO	ORPHA:220386
HP:0002465	Poor speech	5727	PTCH1	ORPHA:93926
HP:0002465	Poor speech	5727	PTCH1	ORPHA:93924
HP:0002465	Poor speech	5727	PTCH1	ORPHA:93925
HP:0002465	Poor speech	5727	PTCH1	ORPHA:220386
HP:0002465	Poor speech	50937	CDON	ORPHA:93926
HP:0002465	Poor speech	50937	CDON	ORPHA:93924
HP:0002465	Poor speech	50937	CDON	ORPHA:93925
HP:0002465	Poor speech	50937	CDON	ORPHA:220386
HP:0002465	Poor speech	8635	RNASET2	OMIM:612951
HP:0002465	Poor speech	84300	UQCC2	OMIM:615824
HP:0002465	Poor speech	2260	FGFR1	ORPHA:93924
HP:0002465	Poor speech	2260	FGFR1	ORPHA:220386
HP:0002465	Poor speech	23007	PLCH1	ORPHA:93925
HP:0002465	Poor speech	10735	STAG2	ORPHA:93925
HP:0002465	Poor speech	10735	STAG2	ORPHA:220386
HP:0002465	Poor speech	10382	TUBB4A	OMIM:612438
HP:0002465	Poor speech	1499	CTNNB1	ORPHA:404473
HP:0002465	Poor speech	11212	PLPBP	OMIM:617290
HP:0002465	Poor speech	388662	SLC6A17	ORPHA:457212
HP:0002465	Poor speech	5063	PAK3	OMIM:300558
HP:0002465	Poor speech	8905	AP1S2	ORPHA:85335
HP:0002465	Poor speech	163786	SASS6	OMIM:616402
HP:0002465	Poor speech	998	CDC42	ORPHA:487796
HP:0002465	Poor speech	9894	TELO2	ORPHA:488642
HP:0002465	Poor speech	4983	OPHN1	ORPHA:137831
HP:0002465	Poor speech	285175	UNC80	OMIM:616801
HP:0002465	Poor speech	85440	DOCK7	ORPHA:411986
HP:0002465	Poor speech	5590	PRKCZ	ORPHA:1606
HP:0002465	Poor speech	2563	GABRD	ORPHA:1606
HP:0002465	Poor speech	23013	SPEN	ORPHA:1606
HP:0002465	Poor speech	8510	MMP23B	ORPHA:1606
HP:0002465	Poor speech	7798	LUZP1	ORPHA:1606
HP:0002465	Poor speech	6497	SKI	ORPHA:1606
HP:0002465	Poor speech	10630	PDPN	ORPHA:1606
HP:0002465	Poor speech	3339	HSPG2	ORPHA:1606
HP:0002465	Poor speech	10277	UBE4B	ORPHA:1606
HP:0002465	Poor speech	8514	KCNAB2	ORPHA:1606
HP:0002465	Poor speech	473	RERE	ORPHA:1606
HP:0002465	Poor speech	63976	PRDM16	ORPHA:1606
HP:0002465	Poor speech	54897	CASZ1	ORPHA:1606
HP:0002465	Poor speech	10128	LRPPRC	ORPHA:70472
HP:0002465	Poor speech	26047	CNTNAP2	ORPHA:163681
HP:0002465	Poor speech	26047	CNTNAP2	OMIM:610042
HP:0002465	Poor speech	1737	DLAT	OMIM:245348
HP:0002465	Poor speech	55210	ATAD3A	ORPHA:496790
HP:0002465	Poor speech	7204	TRIO	OMIM:617061
HP:0002465	Poor speech	7204	TRIO	ORPHA:476126
HP:0002465	Poor speech	6857	SYT1	ORPHA:522077
HP:0002465	Poor speech	5058	PAK1	OMIM:618158
HP:0002465	Poor speech	2232	FDXR	ORPHA:543470
HP:0002465	Poor speech	28952	CCDC22	OMIM:300963
HP:0002465	Poor speech	81887	LAS1L	ORPHA:3459
HP:0002465	Poor speech	55869	HDAC8	ORPHA:3459
HP:0002465	Poor speech	57570	TRMT5	OMIM:616539
HP:0002465	Poor speech	23096	IQSEC2	OMIM:309530
HP:0002465	Poor speech	3708	ITPR1	OMIM:117360
HP:0002465	Poor speech	54112	GPR88	OMIM:616939
HP:0002465	Poor speech	93587	TRMT10A	ORPHA:391408
HP:0002465	Poor speech	84919	PPP1R15B	ORPHA:391408
HP:0002465	Poor speech	55691	FRMD4A	ORPHA:466688
HP:0002465	Poor speech	23314	SATB2	ORPHA:576283
HP:0002465	Poor speech	10717	AP4B1	ORPHA:280763
HP:0002465	Poor speech	9179	AP4M1	ORPHA:280763
HP:0002465	Poor speech	11154	AP4S1	ORPHA:280763
HP:0002465	Poor speech	23431	AP4E1	ORPHA:280763
HP:0002465	Poor speech	4841	NONO	ORPHA:466791
HP:0002465	Poor speech	4081	MAB21L1	ORPHA:495875
HP:0002465	Poor speech	23545	ATP6V0A2	ORPHA:357074
HP:0002465	Poor speech	523	ATP6V1A	ORPHA:357074
HP:0002465	Poor speech	529	ATP6V1E1	ORPHA:357074
HP:0002465	Poor speech	5528	PPP2R5D	ORPHA:457279
HP:0002465	Poor speech	55084	SOBP	OMIM:613671
HP:0002465	Poor speech	476	ATP1A1	ORPHA:564178
HP:0002465	Poor speech	2990	GUSB	OMIM:253220
HP:0002465	Poor speech	9928	KIF14	OMIM:617914
HP:0002465	Poor speech	5879	RAC1	ORPHA:500159
HP:0002465	Poor speech	162417	NAGS	ORPHA:927
HP:0002465	Poor speech	3458	IFNG	ORPHA:805
HP:0002465	Poor speech	7248	TSC1	ORPHA:805
HP:0002465	Poor speech	7249	TSC2	ORPHA:805
HP:0002465	Poor speech	284058	KANSL1	OMIM:610443
HP:0002465	Poor speech	11043	MID2	OMIM:300928
HP:0002465	Poor speech	9757	KMT2B	OMIM:619934
HP:0002465	Poor speech	64116	SLC39A8	ORPHA:468699
HP:0002465	Poor speech	54936	ADPRS	OMIM:618170
HP:0002465	Poor speech	6595	SMARCA2	OMIM:601358
HP:0002465	Poor speech	26100	WIPI2	OMIM:618453
HP:0002465	Poor speech	80704	SLC19A3	ORPHA:263410
HP:0002465	Poor speech	8295	TRRAP	OMIM:618454
HP:0002465	Poor speech	1968	EIF2S3	OMIM:300148
HP:0002465	Poor speech	341208	HEPHL1	OMIM:261990
HP:0002465	Poor speech	4281	MID1	ORPHA:2745
HP:0002465	Poor speech	6878	TAF6	OMIM:617126
HP:0002465	Poor speech	25978	CHMP2B	ORPHA:275864
HP:0002465	Poor speech	5663	PSEN1	ORPHA:275864
HP:0002465	Poor speech	2896	GRN	ORPHA:275864
HP:0002465	Poor speech	54664	TMEM106B	ORPHA:275864
HP:0002465	Poor speech	8878	SQSTM1	ORPHA:275864
HP:0002465	Poor speech	54209	TREM2	ORPHA:275864
HP:0002465	Poor speech	7415	VCP	ORPHA:275864
HP:0002465	Poor speech	5518	PPP2R1A	ORPHA:457284
HP:0002465	Poor speech	6638	SNRPN	ORPHA:411515
HP:0002465	Poor speech	57194	ATP10A	ORPHA:411515
HP:0002465	Poor speech	23516	SLC39A14	ORPHA:521406
HP:0002465	Poor speech	54808	DYM	ORPHA:239
HP:0001265	Hyporeflexia	2137	EXTL3	ORPHA:508533
HP:0001265	Hyporeflexia	8518	ELP1	ORPHA:1764
HP:0001265	Hyporeflexia	8518	ELP1	OMIM:223900
HP:0001265	Hyporeflexia	3145	HMBS	OMIM:620704
HP:0001265	Hyporeflexia	22880	MORC2	OMIM:616688
HP:0001265	Hyporeflexia	22880	MORC2	OMIM:619090
HP:0001265	Hyporeflexia	23334	SZT2	OMIM:615476
HP:0001265	Hyporeflexia	23334	SZT2	ORPHA:442835
HP:0001265	Hyporeflexia	19	ABCA1	OMIM:205400
HP:0001265	Hyporeflexia	2731	GLDC	OMIM:605899
HP:0001265	Hyporeflexia	4535	MT-ND1	ORPHA:255210
HP:0001265	Hyporeflexia	4536	MT-ND2	ORPHA:255210
HP:0001265	Hyporeflexia	4537	MT-ND3	ORPHA:255210
HP:0001265	Hyporeflexia	4538	MT-ND4	ORPHA:255210
HP:0001265	Hyporeflexia	4567	MT-TL1	ORPHA:255210
HP:0001265	Hyporeflexia	4578	MT-TW	ORPHA:255210
HP:0001265	Hyporeflexia	4577	MT-TV	ORPHA:255210
HP:0001265	Hyporeflexia	4508	MT-ATP6	ORPHA:255210
HP:0001265	Hyporeflexia	4540	MT-ND5	ORPHA:255210
HP:0001265	Hyporeflexia	4541	MT-ND6	ORPHA:255210
HP:0001265	Hyporeflexia	4566	MT-TK	ORPHA:255210
HP:0001265	Hyporeflexia	65082	VPS33A	OMIM:617303
HP:0001265	Hyporeflexia	65082	VPS33A	ORPHA:505248
HP:0001265	Hyporeflexia	84466	MEGF10	OMIM:614399
HP:0001265	Hyporeflexia	10908	PNPLA6	OMIM:275400
HP:0001265	Hyporeflexia	10908	PNPLA6	OMIM:215470
HP:0001265	Hyporeflexia	3508	IGHMBP2	OMIM:604320
HP:0001265	Hyporeflexia	3508	IGHMBP2	OMIM:616155
HP:0001265	Hyporeflexia	55768	NGLY1	ORPHA:404454
HP:0001265	Hyporeflexia	55768	NGLY1	OMIM:615273
HP:0001265	Hyporeflexia	81846	SBF2	OMIM:604563
HP:0001265	Hyporeflexia	79158	GNPTAB	OMIM:252500
HP:0001265	Hyporeflexia	57231	SNX14	ORPHA:397709
HP:0001265	Hyporeflexia	57231	SNX14	OMIM:616354
HP:0001265	Hyporeflexia	5189	PEX1	OMIM:214100
HP:0001265	Hyporeflexia	5189	PEX1	ORPHA:3220
HP:0001265	Hyporeflexia	100996717	NOTCH2NLC	OMIM:603472
HP:0001265	Hyporeflexia	100996717	NOTCH2NLC	OMIM:619473
HP:0001265	Hyporeflexia	7253	TSHR	ORPHA:90673
HP:0001265	Hyporeflexia	4625	MYH7	OMIM:160500
HP:0001265	Hyporeflexia	7252	TSHB	ORPHA:90674
HP:0001265	Hyporeflexia	410	ARSA	ORPHA:309271
HP:0001265	Hyporeflexia	410	ARSA	ORPHA:309263
HP:0001265	Hyporeflexia	410	ARSA	OMIM:250100
HP:0001265	Hyporeflexia	410	ARSA	ORPHA:309256
HP:0001265	Hyporeflexia	5660	PSAP	ORPHA:309271
HP:0001265	Hyporeflexia	5660	PSAP	ORPHA:309263
HP:0001265	Hyporeflexia	5660	PSAP	OMIM:611722
HP:0001265	Hyporeflexia	5660	PSAP	ORPHA:309256
HP:0001265	Hyporeflexia	5660	PSAP	ORPHA:206436
HP:0001265	Hyporeflexia	5660	PSAP	OMIM:249900
HP:0001265	Hyporeflexia	10559	SLC35A1	OMIM:603585
HP:0001265	Hyporeflexia	60482	SLC5A7	OMIM:158580
HP:0001265	Hyporeflexia	60482	SLC5A7	ORPHA:98914
HP:0001265	Hyporeflexia	4358	MPV17	OMIM:618400
HP:0001265	Hyporeflexia	4358	MPV17	OMIM:256810
HP:0001265	Hyporeflexia	55154	MSTO1	OMIM:617675
HP:0001265	Hyporeflexia	55154	MSTO1	ORPHA:502423
HP:0001265	Hyporeflexia	9698	PUM1	OMIM:620719
HP:0001265	Hyporeflexia	50484	RRM2B	OMIM:613077
HP:0001265	Hyporeflexia	50484	RRM2B	ORPHA:254892
HP:0001265	Hyporeflexia	311	ANXA11	OMIM:619733
HP:0001265	Hyporeflexia	2074	ERCC6	OMIM:278800
HP:0001265	Hyporeflexia	55149	MTPAP	ORPHA:254343
HP:0001265	Hyporeflexia	55703	POLR3B	OMIM:619742
HP:0001265	Hyporeflexia	83636	C19orf12	OMIM:614298
HP:0001265	Hyporeflexia	83636	C19orf12	OMIM:615043
HP:0001265	Hyporeflexia	2903	GRIN2A	ORPHA:289266
HP:0001265	Hyporeflexia	54872	PIGG	ORPHA:488635
HP:0001265	Hyporeflexia	54872	PIGG	OMIM:616917
HP:0001265	Hyporeflexia	246243	RNASEH1	OMIM:616479
HP:0001265	Hyporeflexia	55526	DHTKD1	OMIM:615025
HP:0001265	Hyporeflexia	54840	APTX	OMIM:208920
HP:0001265	Hyporeflexia	79731	NARS2	OMIM:616239
HP:0001265	Hyporeflexia	3737	KCNA2	ORPHA:442835
HP:0001265	Hyporeflexia	1759	DNM1	ORPHA:442835
HP:0001265	Hyporeflexia	8120	AP3B2	ORPHA:442835
HP:0001265	Hyporeflexia	8120	AP3B2	OMIM:617276
HP:0001265	Hyporeflexia	523	ATP6V1A	ORPHA:442835
HP:0001265	Hyporeflexia	10991	SLC38A3	ORPHA:442835
HP:0001265	Hyporeflexia	51343	FZR1	ORPHA:442835
HP:0001265	Hyporeflexia	51343	FZR1	OMIM:620145
HP:0001265	Hyporeflexia	3747	KCNC2	ORPHA:442835
HP:0001265	Hyporeflexia	1917	EEF1A2	ORPHA:442835
HP:0001265	Hyporeflexia	23219	FBXO28	ORPHA:442835
HP:0001265	Hyporeflexia	23219	FBXO28	OMIM:619777
HP:0001265	Hyporeflexia	2561	GABRB2	ORPHA:442835
HP:0001265	Hyporeflexia	8831	SYNGAP1	ORPHA:442835
HP:0001265	Hyporeflexia	2558	GABRA5	ORPHA:442835
HP:0001265	Hyporeflexia	2906	GRIN2D	ORPHA:442835
HP:0001265	Hyporeflexia	116150	NUS1	ORPHA:442835
HP:0001265	Hyporeflexia	1213	CLTC	ORPHA:442835
HP:0001265	Hyporeflexia	51741	WWOX	ORPHA:442835
HP:0001265	Hyporeflexia	51741	WWOX	ORPHA:284282
HP:0001265	Hyporeflexia	51741	WWOX	OMIM:614322
HP:0001265	Hyporeflexia	348980	HCN1	ORPHA:442835
HP:0001265	Hyporeflexia	25977	NECAP1	ORPHA:442835
HP:0001265	Hyporeflexia	23241	PACS2	ORPHA:442835
HP:0001265	Hyporeflexia	16	AARS1	ORPHA:442835
HP:0001265	Hyporeflexia	16	AARS1	ORPHA:33364
HP:0001265	Hyporeflexia	16	AARS1	OMIM:613287
HP:0001265	Hyporeflexia	6334	SCN8A	ORPHA:442835
HP:0001265	Hyporeflexia	9568	GABBR2	ORPHA:442835
HP:0001265	Hyporeflexia	2555	GABRA2	ORPHA:442835
HP:0001265	Hyporeflexia	55152	DALRD3	ORPHA:442835
HP:0001265	Hyporeflexia	26999	CYFIP2	ORPHA:442835
HP:0001265	Hyporeflexia	4915	NTRK2	ORPHA:442835
HP:0001265	Hyporeflexia	25973	PARS2	ORPHA:442835
HP:0001265	Hyporeflexia	23097	CDK19	ORPHA:442835
HP:0001265	Hyporeflexia	2257	FGF12	ORPHA:442835
HP:0001265	Hyporeflexia	5530	PPP3CA	ORPHA:442835
HP:0001265	Hyporeflexia	478	ATP1A3	ORPHA:442835
HP:0001265	Hyporeflexia	22906	TRAK1	ORPHA:442835
HP:0001265	Hyporeflexia	2566	GABRG2	ORPHA:442835
HP:0001265	Hyporeflexia	7532	YWHAG	ORPHA:442835
HP:0001265	Hyporeflexia	79876	UBA5	ORPHA:442835
HP:0001265	Hyporeflexia	6328	SCN3A	ORPHA:442835
HP:0001265	Hyporeflexia	781	CACNA2D1	ORPHA:442835
HP:0001265	Hyporeflexia	10659	CELF2	ORPHA:442835
HP:0001265	Hyporeflexia	774	CACNA1B	ORPHA:442835
HP:0001265	Hyporeflexia	51412	ACTL6B	ORPHA:442835
HP:0001265	Hyporeflexia	2290	FOXG1	ORPHA:442835
HP:0001265	Hyporeflexia	6506	SLC1A2	ORPHA:442835
HP:0001265	Hyporeflexia	8867	SYNJ1	ORPHA:442835
HP:0001265	Hyporeflexia	8867	SYNJ1	ORPHA:391411
HP:0001265	Hyporeflexia	477	ATP1A2	ORPHA:442835
HP:0001265	Hyporeflexia	3745	KCNB1	ORPHA:442835
HP:0001265	Hyporeflexia	284111	SLC13A5	ORPHA:442835
HP:0001265	Hyporeflexia	22866	CNKSR2	ORPHA:442835
HP:0001265	Hyporeflexia	773	CACNA1A	ORPHA:442835
HP:0001265	Hyporeflexia	6323	SCN1A	ORPHA:442835
HP:0001265	Hyporeflexia	79947	DHDDS	ORPHA:442835
HP:0001265	Hyporeflexia	9927	MFN2	OMIM:601152
HP:0001265	Hyporeflexia	9927	MFN2	OMIM:609260
HP:0001265	Hyporeflexia	9927	MFN2	OMIM:617087
HP:0001265	Hyporeflexia	5373	PMM2	OMIM:212065
HP:0001265	Hyporeflexia	5373	PMM2	ORPHA:79318
HP:0001265	Hyporeflexia	2313	FLI1	ORPHA:370348
HP:0001265	Hyporeflexia	5376	PMP22	ORPHA:101081
HP:0001265	Hyporeflexia	5376	PMP22	ORPHA:640
HP:0001265	Hyporeflexia	5376	PMP22	OMIM:118300
HP:0001265	Hyporeflexia	5376	PMP22	OMIM:180800
HP:0001265	Hyporeflexia	5376	PMP22	OMIM:118220
HP:0001265	Hyporeflexia	5376	PMP22	OMIM:145900
HP:0001265	Hyporeflexia	5376	PMP22	OMIM:162500
HP:0001265	Hyporeflexia	5376	PMP22	ORPHA:98916
HP:0001265	Hyporeflexia	59341	TRPV4	OMIM:600175
HP:0001265	Hyporeflexia	59341	TRPV4	OMIM:181405
HP:0001265	Hyporeflexia	59341	TRPV4	OMIM:606071
HP:0001265	Hyporeflexia	1187	CLCNKA	OMIM:613090
HP:0001265	Hyporeflexia	1188	CLCNKB	OMIM:613090
HP:0001265	Hyporeflexia	55773	TBC1D23	OMIM:617695
HP:0001265	Hyporeflexia	2318	FLNC	OMIM:614065
HP:0001265	Hyporeflexia	55699	IARS2	OMIM:616007
HP:0001265	Hyporeflexia	59335	PRDM12	OMIM:616488
HP:0001265	Hyporeflexia	4191	MDH2	OMIM:617339
HP:0001265	Hyporeflexia	58	ACTA1	OMIM:161800
HP:0001265	Hyporeflexia	58	ACTA1	ORPHA:97244
HP:0001265	Hyporeflexia	58	ACTA1	ORPHA:171436
HP:0001265	Hyporeflexia	58	ACTA1	ORPHA:171433
HP:0001265	Hyporeflexia	58	ACTA1	ORPHA:171439
HP:0001265	Hyporeflexia	58	ACTA1	OMIM:616852
HP:0001265	Hyporeflexia	100134444	KCNJ18	ORPHA:79102
HP:0001265	Hyporeflexia	100134444	KCNJ18	OMIM:613239
HP:0001265	Hyporeflexia	2556	GABRA3	ORPHA:79102
HP:0001265	Hyporeflexia	779	CACNA1S	ORPHA:79102
HP:0001265	Hyporeflexia	6606	SMN1	OMIM:253400
HP:0001265	Hyporeflexia	6607	SMN2	OMIM:253400
HP:0001265	Hyporeflexia	1822	ATN1	ORPHA:101
HP:0001265	Hyporeflexia	4311	MME	ORPHA:497764
HP:0001265	Hyporeflexia	4311	MME	OMIM:617018
HP:0001265	Hyporeflexia	4311	MME	OMIM:617017
HP:0001265	Hyporeflexia	4669	NAGLU	OMIM:616491
HP:0001265	Hyporeflexia	59336	PRDM13	OMIM:619761
HP:0001265	Hyporeflexia	59336	PRDM13	OMIM:619909
HP:0001265	Hyporeflexia	56652	TWNK	OMIM:616138
HP:0001265	Hyporeflexia	56652	TWNK	ORPHA:254892
HP:0001265	Hyporeflexia	56652	TWNK	OMIM:609286
HP:0001265	Hyporeflexia	56652	TWNK	OMIM:607459
HP:0001265	Hyporeflexia	56652	TWNK	ORPHA:70595
HP:0001265	Hyporeflexia	400916	CHCHD10	OMIM:615048
HP:0001265	Hyporeflexia	400916	CHCHD10	OMIM:615911
HP:0001265	Hyporeflexia	400916	CHCHD10	ORPHA:275872
HP:0001265	Hyporeflexia	400916	CHCHD10	ORPHA:276435
HP:0001265	Hyporeflexia	146227	BEAN1	ORPHA:217012
HP:0001265	Hyporeflexia	9711	RUBCN	ORPHA:404499
HP:0001265	Hyporeflexia	91949	COG7	ORPHA:79333
HP:0001265	Hyporeflexia	91949	COG7	OMIM:608779
HP:0001265	Hyporeflexia	6785	ELOVL4	ORPHA:1955
HP:0001265	Hyporeflexia	6785	ELOVL4	OMIM:133190
HP:0001265	Hyporeflexia	38	ACAT1	ORPHA:134
HP:0001265	Hyporeflexia	23556	PIGN	OMIM:614080
HP:0001265	Hyporeflexia	23556	PIGN	ORPHA:280633
HP:0001265	Hyporeflexia	51651	PTRH2	OMIM:616263
HP:0001265	Hyporeflexia	5354	PLP1	OMIM:312080
HP:0001265	Hyporeflexia	339855	KY	OMIM:617114
HP:0001265	Hyporeflexia	4099	MAG	ORPHA:459056
HP:0001265	Hyporeflexia	6261	RYR1	ORPHA:324581
HP:0001265	Hyporeflexia	6261	RYR1	OMIM:117000
HP:0001265	Hyporeflexia	404672	GTF2H5	ORPHA:33364
HP:0001265	Hyporeflexia	833	CARS1	ORPHA:33364
HP:0001265	Hyporeflexia	2068	ERCC2	ORPHA:33364
HP:0001265	Hyporeflexia	2068	ERCC2	OMIM:278730
HP:0001265	Hyporeflexia	7737	RNF113A	ORPHA:33364
HP:0001265	Hyporeflexia	136647	MPLKIP	ORPHA:33364
HP:0001265	Hyporeflexia	6897	TARS1	ORPHA:33364
HP:0001265	Hyporeflexia	2071	ERCC3	ORPHA:33364
HP:0001265	Hyporeflexia	2961	GTF2E2	ORPHA:33364
HP:0001265	Hyporeflexia	3339	HSPG2	OMIM:255800
HP:0001265	Hyporeflexia	3339	HSPG2	ORPHA:800
HP:0001265	Hyporeflexia	2778	GNAS	ORPHA:79443
HP:0001265	Hyporeflexia	2778	GNAS	ORPHA:79444
HP:0001265	Hyporeflexia	2778	GNAS	ORPHA:94089
HP:0001265	Hyporeflexia	367	AR	ORPHA:481
HP:0001265	Hyporeflexia	367	AR	OMIM:313200
HP:0001265	Hyporeflexia	9217	VAPB	OMIM:182980
HP:0001265	Hyporeflexia	59345	GNB4	OMIM:615185
HP:0001265	Hyporeflexia	57505	AARS2	OMIM:614096
HP:0001265	Hyporeflexia	1337	COX6A1	OMIM:616039
HP:0001265	Hyporeflexia	2583	B4GALNT1	OMIM:609195
HP:0001265	Hyporeflexia	2583	B4GALNT1	ORPHA:101006
HP:0001265	Hyporeflexia	51013	EXOSC1	OMIM:619304
HP:0001265	Hyporeflexia	5910	RAP1GDS1	OMIM:620655
HP:0001265	Hyporeflexia	81603	TRIM8	OMIM:619428
HP:0001265	Hyporeflexia	8803	SUCLA2	ORPHA:1933
HP:0001265	Hyporeflexia	8803	SUCLA2	OMIM:612073
HP:0001265	Hyporeflexia	2617	GARS1	OMIM:601472
HP:0001265	Hyporeflexia	291	SLC25A4	ORPHA:254892
HP:0001265	Hyporeflexia	291	SLC25A4	OMIM:617184
HP:0001265	Hyporeflexia	5428	POLG	ORPHA:254892
HP:0001265	Hyporeflexia	5428	POLG	OMIM:258450
HP:0001265	Hyporeflexia	5428	POLG	ORPHA:254886
HP:0001265	Hyporeflexia	5428	POLG	OMIM:157640
HP:0001265	Hyporeflexia	5428	POLG	OMIM:607459
HP:0001265	Hyporeflexia	5428	POLG	ORPHA:70595
HP:0001265	Hyporeflexia	11232	POLG2	ORPHA:254892
HP:0001265	Hyporeflexia	9488	PIGB	OMIM:618580
HP:0001265	Hyporeflexia	57190	SELENON	ORPHA:97244
HP:0001265	Hyporeflexia	3155	HMGCL	ORPHA:20
HP:0001265	Hyporeflexia	3155	HMGCL	OMIM:246450
HP:0001265	Hyporeflexia	127833	SYT2	OMIM:616040
HP:0001265	Hyporeflexia	127833	SYT2	ORPHA:98914
HP:0001265	Hyporeflexia	79705	LRRK1	OMIM:615198
HP:0001265	Hyporeflexia	1410	CRYAB	ORPHA:399058
HP:0001265	Hyporeflexia	79912	PYROXD1	OMIM:617258
HP:0001265	Hyporeflexia	1756	DMD	OMIM:310200
HP:0001265	Hyporeflexia	1756	DMD	OMIM:300376
HP:0001265	Hyporeflexia	7443	VRK1	OMIM:620542
HP:0001265	Hyporeflexia	7443	VRK1	ORPHA:2254
HP:0001265	Hyporeflexia	4703	NEB	OMIM:256030
HP:0001265	Hyporeflexia	4703	NEB	ORPHA:171436
HP:0001265	Hyporeflexia	4703	NEB	ORPHA:171433
HP:0001265	Hyporeflexia	4703	NEB	ORPHA:171439
HP:0001265	Hyporeflexia	2200	FBN1	ORPHA:284979
HP:0001265	Hyporeflexia	8675	STX16	ORPHA:94089
HP:0001265	Hyporeflexia	256297	PTF1A	OMIM:609069
HP:0001265	Hyporeflexia	7555	CNBP	OMIM:602668
HP:0001265	Hyporeflexia	10397	NDRG1	OMIM:601455
HP:0001265	Hyporeflexia	91942	NDUFAF2	OMIM:618233
HP:0001265	Hyporeflexia	7084	TK2	ORPHA:254886
HP:0001265	Hyporeflexia	7084	TK2	ORPHA:254875
HP:0001265	Hyporeflexia	23114	NFASC	OMIM:618356
HP:0001265	Hyporeflexia	92667	MGME1	OMIM:615084
HP:0001265	Hyporeflexia	92667	MGME1	ORPHA:352447
HP:0001265	Hyporeflexia	116461	TSEN15	OMIM:617026
HP:0001265	Hyporeflexia	1130	LYST	OMIM:214500
HP:0001265	Hyporeflexia	84892	POMGNT2	ORPHA:899
HP:0001265	Hyporeflexia	148789	B3GALNT2	ORPHA:899
HP:0001265	Hyporeflexia	79147	FKRP	ORPHA:899
HP:0001265	Hyporeflexia	79147	FKRP	OMIM:613153
HP:0001265	Hyporeflexia	29954	POMT2	ORPHA:899
HP:0001265	Hyporeflexia	29954	POMT2	OMIM:613156
HP:0001265	Hyporeflexia	9215	LARGE1	ORPHA:899
HP:0001265	Hyporeflexia	1282	COL4A1	ORPHA:899
HP:0001265	Hyporeflexia	729920	CRPPA	ORPHA:899
HP:0001265	Hyporeflexia	10329	RXYLT1	ORPHA:899
HP:0001265	Hyporeflexia	1605	DAG1	ORPHA:899
HP:0001265	Hyporeflexia	11041	B4GAT1	ORPHA:899
HP:0001265	Hyporeflexia	10585	POMT1	ORPHA:899
HP:0001265	Hyporeflexia	84197	POMK	ORPHA:899
HP:0001265	Hyporeflexia	84197	POMK	OMIM:616094
HP:0001265	Hyporeflexia	2218	FKTN	ORPHA:899
HP:0001265	Hyporeflexia	2218	FKTN	OMIM:611588
HP:0001265	Hyporeflexia	55624	POMGNT1	ORPHA:899
HP:0001265	Hyporeflexia	57551	TAOK1	OMIM:619575
HP:0001265	Hyporeflexia	8888	MCM3AP	OMIM:618124
HP:0001265	Hyporeflexia	4704	NDUFA9	OMIM:618247
HP:0001265	Hyporeflexia	1621	DBH	OMIM:223360
HP:0001265	Hyporeflexia	23345	SYNE1	OMIM:618484
HP:0001265	Hyporeflexia	23345	SYNE1	ORPHA:319332
HP:0001265	Hyporeflexia	7169	TPM2	OMIM:609285
HP:0001265	Hyporeflexia	7169	TPM2	ORPHA:171436
HP:0001265	Hyporeflexia	7169	TPM2	ORPHA:171439
HP:0001265	Hyporeflexia	64856	VWA1	OMIM:619216
HP:0001265	Hyporeflexia	23203	PMPCA	OMIM:213200
HP:0001265	Hyporeflexia	3913	LAMB2	OMIM:609049
HP:0001265	Hyporeflexia	3913	LAMB2	ORPHA:98915
HP:0001265	Hyporeflexia	112812	FDX2	OMIM:251900
HP:0001265	Hyporeflexia	463	ZFHX3	OMIM:600223
HP:0001265	Hyporeflexia	7809	BSND	OMIM:602522
HP:0001265	Hyporeflexia	2332	FMR1	OMIM:300623
HP:0001265	Hyporeflexia	2332	FMR1	ORPHA:93256
HP:0001265	Hyporeflexia	4556	MT-TE	ORPHA:254864
HP:0001265	Hyporeflexia	55687	TRMU	ORPHA:254864
HP:0001265	Hyporeflexia	2705	GJB1	OMIM:302800
HP:0001265	Hyporeflexia	54332	GDAP1	OMIM:214400
HP:0001265	Hyporeflexia	54332	GDAP1	OMIM:608340
HP:0001265	Hyporeflexia	64374	SIL1	ORPHA:559
HP:0001265	Hyporeflexia	9531	BAG3	OMIM:612954
HP:0001265	Hyporeflexia	65260	COA7	OMIM:618387
HP:0001265	Hyporeflexia	57003	CCDC47	OMIM:618268
HP:0001265	Hyporeflexia	2892	GRIA3	ORPHA:364028
HP:0001265	Hyporeflexia	2892	GRIA3	OMIM:300699
HP:0001265	Hyporeflexia	50846	DHH	OMIM:607080
HP:0001265	Hyporeflexia	63895	PIEZO2	OMIM:108145
HP:0001265	Hyporeflexia	526	ATP6V1B2	ORPHA:79500
HP:0001265	Hyporeflexia	57465	TBC1D24	ORPHA:79500
HP:0001265	Hyporeflexia	57465	TBC1D24	OMIM:220500
HP:0001265	Hyporeflexia	9829	DNAJC6	ORPHA:391411
HP:0001265	Hyporeflexia	5420	PODXL	ORPHA:391411
HP:0001265	Hyporeflexia	476	ATP1A1	OMIM:618036
HP:0001265	Hyporeflexia	23230	VPS13A	OMIM:200150
HP:0001265	Hyporeflexia	2273	FHL1	OMIM:300718
HP:0001265	Hyporeflexia	2273	FHL1	OMIM:300717
HP:0001265	Hyporeflexia	2273	FHL1	OMIM:300695
HP:0001265	Hyporeflexia	6663	SOX10	OMIM:609136
HP:0001265	Hyporeflexia	9759	HDAC4	OMIM:600430
HP:0001265	Hyporeflexia	1716	DGUOK	OMIM:617070
HP:0001265	Hyporeflexia	2629	GBA1	ORPHA:2072
HP:0001265	Hyporeflexia	2521	FUS	OMIM:608030
HP:0001265	Hyporeflexia	2521	FUS	ORPHA:275872
HP:0001265	Hyporeflexia	60386	SLC25A19	OMIM:613710
HP:0001265	Hyporeflexia	203190	LGI3	OMIM:620007
HP:0001265	Hyporeflexia	55005	RMND1	OMIM:614922
HP:0001265	Hyporeflexia	2581	GALC	ORPHA:206436
HP:0001265	Hyporeflexia	1795	DOCK3	OMIM:618292
HP:0001265	Hyporeflexia	129285	PPP1R21	OMIM:619383
HP:0001265	Hyporeflexia	60684	TRAPPC11	ORPHA:369840
HP:0001265	Hyporeflexia	9131	AIFM1	OMIM:300816
HP:0001265	Hyporeflexia	87178	PNPT1	OMIM:614932
HP:0001265	Hyporeflexia	3156	HMGCR	OMIM:620375
HP:0001265	Hyporeflexia	9987	HNRNPDL	OMIM:609115
HP:0001265	Hyporeflexia	9898	UBAP2L	OMIM:620494
HP:0001265	Hyporeflexia	65055	REEP1	OMIM:620011
HP:0001265	Hyporeflexia	4359	MPZ	OMIM:618184
HP:0001265	Hyporeflexia	4359	MPZ	OMIM:180800
HP:0001265	Hyporeflexia	4359	MPZ	OMIM:118200
HP:0001265	Hyporeflexia	4359	MPZ	OMIM:145900
HP:0001265	Hyporeflexia	4359	MPZ	OMIM:607677
HP:0001265	Hyporeflexia	4359	MPZ	OMIM:607791
HP:0001265	Hyporeflexia	4359	MPZ	OMIM:607736
HP:0001265	Hyporeflexia	8506	CNTNAP1	OMIM:618186
HP:0001265	Hyporeflexia	5393	EXOSC9	OMIM:618065
HP:0001265	Hyporeflexia	5393	EXOSC9	ORPHA:2254
HP:0001265	Hyporeflexia	50717	DCAF8	OMIM:610100
HP:0001265	Hyporeflexia	4747	NEFL	ORPHA:99939
HP:0001265	Hyporeflexia	4747	NEFL	OMIM:607684
HP:0001265	Hyporeflexia	4747	NEFL	OMIM:607734
HP:0001265	Hyporeflexia	4747	NEFL	OMIM:617882
HP:0001265	Hyporeflexia	8878	SQSTM1	ORPHA:275872
HP:0001265	Hyporeflexia	8878	SQSTM1	OMIM:616437
HP:0001265	Hyporeflexia	7415	VCP	ORPHA:275872
HP:0001265	Hyporeflexia	23435	TARDBP	ORPHA:275872
HP:0001265	Hyporeflexia	29110	TBK1	ORPHA:275872
HP:0001265	Hyporeflexia	29110	TBK1	OMIM:616439
HP:0001265	Hyporeflexia	7879	RAB7A	OMIM:600882
HP:0001265	Hyporeflexia	10324	KLHL41	ORPHA:171436
HP:0001265	Hyporeflexia	10324	KLHL41	ORPHA:171433
HP:0001265	Hyporeflexia	10324	KLHL41	ORPHA:171439
HP:0001265	Hyporeflexia	56203	LMOD3	ORPHA:171436
HP:0001265	Hyporeflexia	1073	CFL2	ORPHA:171436
HP:0001265	Hyporeflexia	538	ATP7A	OMIM:300489
HP:0001265	Hyporeflexia	7170	TPM3	ORPHA:171433
HP:0001265	Hyporeflexia	7170	TPM3	ORPHA:171439
HP:0001265	Hyporeflexia	6576	SLC25A1	OMIM:618197
HP:0001265	Hyporeflexia	6576	SLC25A1	ORPHA:98914
HP:0001265	Hyporeflexia	6311	ATXN2	OMIM:183090
HP:0001265	Hyporeflexia	6311	ATXN2	ORPHA:98756
HP:0001265	Hyporeflexia	6335	SCN9A	OMIM:243000
HP:0001265	Hyporeflexia	6335	SCN9A	OMIM:201300
HP:0001265	Hyporeflexia	2314	FLII	ORPHA:819
HP:0001265	Hyporeflexia	23096	IQSEC2	ORPHA:819
HP:0001265	Hyporeflexia	10743	RAI1	ORPHA:819
HP:0001265	Hyporeflexia	10743	RAI1	OMIM:182290
HP:0001265	Hyporeflexia	10522	DEAF1	ORPHA:819
HP:0001265	Hyporeflexia	7259	TSPYL1	ORPHA:168593
HP:0001265	Hyporeflexia	1351	COX8A	OMIM:619059
HP:0001265	Hyporeflexia	22954	TRIM32	OMIM:254110
HP:0001265	Hyporeflexia	55157	DARS2	ORPHA:137898
HP:0001265	Hyporeflexia	55157	DARS2	OMIM:611105
HP:0001265	Hyporeflexia	93627	TBCK	OMIM:616900
HP:0001265	Hyporeflexia	5238	PGM3	OMIM:615816
HP:0001265	Hyporeflexia	10558	SPTLC1	OMIM:620285
HP:0001265	Hyporeflexia	10558	SPTLC1	OMIM:162400
HP:0001265	Hyporeflexia	7276	TTR	OMIM:105210
HP:0001265	Hyporeflexia	26090	ABHD12	OMIM:612674
HP:0001265	Hyporeflexia	3735	KARS1	OMIM:613641
HP:0001265	Hyporeflexia	11284	PNKP	OMIM:613402
HP:0001265	Hyporeflexia	11284	PNKP	OMIM:605589
HP:0001265	Hyporeflexia	9896	FIG4	OMIM:611228
HP:0001265	Hyporeflexia	5255	PHKA1	ORPHA:715
HP:0001265	Hyporeflexia	5260	PHKG1	ORPHA:715
HP:0001265	Hyporeflexia	121512	FGD4	OMIM:609311
HP:0001265	Hyporeflexia	7915	ALDH5A1	OMIM:271980
HP:0001265	Hyporeflexia	3752	KCND3	ORPHA:98772
HP:0001265	Hyporeflexia	3752	KCND3	OMIM:607346
HP:0001265	Hyporeflexia	1798	DPAGT1	ORPHA:86309
HP:0001265	Hyporeflexia	10801	SEPTIN9	OMIM:162100
HP:0001265	Hyporeflexia	23299	BICD2	ORPHA:363454
HP:0001265	Hyporeflexia	5626	PROP1	ORPHA:226307
HP:0001265	Hyporeflexia	89884	LHX4	ORPHA:226307
HP:0001265	Hyporeflexia	8022	LHX3	ORPHA:226307
HP:0001265	Hyporeflexia	5449	POU1F1	ORPHA:226307
HP:0001265	Hyporeflexia	8820	HESX1	ORPHA:226307
HP:0001265	Hyporeflexia	4744	NEFH	OMIM:616924
HP:0001265	Hyporeflexia	5828	PEX2	OMIM:614867
HP:0001265	Hyporeflexia	11340	EXOSC8	ORPHA:2254
HP:0001265	Hyporeflexia	23287	AGTPBP1	ORPHA:2254
HP:0001265	Hyporeflexia	51010	EXOSC3	ORPHA:2254
HP:0001265	Hyporeflexia	91137	SLC25A46	ORPHA:2254
HP:0001265	Hyporeflexia	91137	SLC25A46	OMIM:616505
HP:0001265	Hyporeflexia	79753	SNIP1	OMIM:614501
HP:0001265	Hyporeflexia	5190	PEX6	ORPHA:3220
HP:0001265	Hyporeflexia	54499	TMCO1	OMIM:213980
HP:0001265	Hyporeflexia	6609	SMPD1	OMIM:257200
HP:0001265	Hyporeflexia	25814	ATXN10	ORPHA:98761
HP:0001265	Hyporeflexia	23175	LPIN1	OMIM:268200
HP:0001265	Hyporeflexia	23095	KIF1B	OMIM:118210
HP:0001265	Hyporeflexia	5192	PEX10	OMIM:614871
HP:0001265	Hyporeflexia	23065	EMC1	ORPHA:480898
HP:0001265	Hyporeflexia	23065	EMC1	OMIM:616875
HP:0001265	Hyporeflexia	6310	ATXN1	ORPHA:98755
HP:0001265	Hyporeflexia	4677	NARS1	OMIM:619091
HP:0001265	Hyporeflexia	4677	NARS1	OMIM:619092
HP:0001265	Hyporeflexia	26047	CNTNAP2	OMIM:610042
HP:0001265	Hyporeflexia	26047	CNTNAP2	ORPHA:163681
HP:0001265	Hyporeflexia	1374	CPT1A	OMIM:255120
HP:0001265	Hyporeflexia	84665	MYPN	ORPHA:171439
HP:0001265	Hyporeflexia	390594	KBTBD13	ORPHA:171439
HP:0001265	Hyporeflexia	50628	GEMIN4	OMIM:617913
HP:0001265	Hyporeflexia	51750	RTEL1	ORPHA:3322
HP:0001265	Hyporeflexia	65057	ACD	ORPHA:3322
HP:0001265	Hyporeflexia	5073	PARN	ORPHA:3322
HP:0001265	Hyporeflexia	7015	TERT	ORPHA:3322
HP:0001265	Hyporeflexia	26277	TINF2	ORPHA:3322
HP:0001265	Hyporeflexia	1736	DKC1	ORPHA:3322
HP:0001265	Hyporeflexia	26353	HSPB8	OMIM:608673
HP:0001265	Hyporeflexia	3098	HK1	OMIM:605285
HP:0001265	Hyporeflexia	65125	WNK1	OMIM:201300
HP:0001265	Hyporeflexia	54463	RETREG1	OMIM:201300
HP:0001265	Hyporeflexia	54463	RETREG1	OMIM:613115
HP:0001265	Hyporeflexia	547	KIF1A	OMIM:201300
HP:0001265	Hyporeflexia	547	KIF1A	OMIM:614213
HP:0001265	Hyporeflexia	10159	ATP6AP2	OMIM:300423
HP:0001265	Hyporeflexia	22907	DHX30	OMIM:617804
HP:0001265	Hyporeflexia	57410	SCYL1	OMIM:616719
HP:0001265	Hyporeflexia	57410	SCYL1	ORPHA:466794
HP:0001265	Hyporeflexia	339453	TMEM240	OMIM:607454
HP:0001265	Hyporeflexia	23064	SETX	OMIM:606002
HP:0001265	Hyporeflexia	1959	EGR2	OMIM:145900
HP:0001265	Hyporeflexia	57716	PRX	OMIM:145900
HP:0001265	Hyporeflexia	5830	PEX5	OMIM:616716
HP:0001265	Hyporeflexia	1785	DNM2	OMIM:606482
HP:0001265	Hyporeflexia	8729	GBF1	OMIM:606483
HP:0001265	Hyporeflexia	5193	PEX12	OMIM:266510
HP:0001265	Hyporeflexia	124997	WDR81	OMIM:610185
HP:0001265	Hyporeflexia	2632	GBE1	OMIM:232500
HP:0001265	Hyporeflexia	7167	TPI1	OMIM:615512
HP:0001265	Hyporeflexia	51807	TUBA8	ORPHA:250972
HP:0001265	Hyporeflexia	85358	SHANK3	OMIM:606232
HP:0001265	Hyporeflexia	5191	PEX7	OMIM:266500
HP:0001265	Hyporeflexia	5264	PHYH	OMIM:266500
HP:0001265	Hyporeflexia	80347	COASY	OMIM:615643
HP:0001265	Hyporeflexia	50	ACO2	OMIM:614559
HP:0001265	Hyporeflexia	90678	LRSAM1	OMIM:614436
HP:0001265	Hyporeflexia	4694	NDUFA1	OMIM:301020
HP:0001265	Hyporeflexia	405753	DUOXA2	ORPHA:95716
HP:0001265	Hyporeflexia	6528	SLC5A5	ORPHA:95716
HP:0001265	Hyporeflexia	7038	TG	ORPHA:95716
HP:0001265	Hyporeflexia	7173	TPO	ORPHA:95716
HP:0001265	Hyporeflexia	389434	IYD	ORPHA:95716
HP:0001265	Hyporeflexia	50506	DUOX2	ORPHA:95716
HP:0001265	Hyporeflexia	1778	DYNC1H1	OMIM:614563
HP:0001265	Hyporeflexia	1778	DYNC1H1	OMIM:614228
HP:0001265	Hyporeflexia	4361	MRE11	OMIM:604391
HP:0001265	Hyporeflexia	64423	INF2	OMIM:614455
HP:0001265	Hyporeflexia	7453	WARS1	OMIM:617721
HP:0001265	Hyporeflexia	5981	RFC1	OMIM:614575
HP:0001265	Hyporeflexia	6638	SNRPN	ORPHA:177907
HP:0001265	Hyporeflexia	81790	RNF170	OMIM:608984
HP:0001265	Hyporeflexia	5498	PPOX	ORPHA:79473
HP:0001265	Hyporeflexia	9997	SCO2	OMIM:604377
HP:0001265	Hyporeflexia	4000	LMNA	OMIM:605588
HP:0001265	Hyporeflexia	81857	MED25	OMIM:605589
HP:0001265	Hyporeflexia	79784	MYH14	ORPHA:397744
HP:0001265	Hyporeflexia	2548	GAA	OMIM:232300
HP:0001265	Hyporeflexia	7507	XPA	OMIM:278700
HP:0001265	Hyporeflexia	5162	PDHB	OMIM:614111
HP:0001265	Hyporeflexia	54870	QRICH1	OMIM:617982
HP:0001265	Hyporeflexia	57688	ZSWIM6	OMIM:617865
HP:0001265	Hyporeflexia	3295	HSD17B4	OMIM:233400
HP:0001265	Hyporeflexia	57570	TRMT5	OMIM:616539
HP:0001265	Hyporeflexia	4649	MYO9A	ORPHA:98914
HP:0001265	Hyporeflexia	1305	COL13A1	ORPHA:98914
HP:0001265	Hyporeflexia	1103	CHAT	ORPHA:98914
HP:0001265	Hyporeflexia	6843	VAMP1	ORPHA:98914
HP:0001265	Hyporeflexia	375790	AGRN	ORPHA:98914
HP:0001265	Hyporeflexia	6572	SLC18A3	ORPHA:98914
HP:0001265	Hyporeflexia	6616	SNAP25	ORPHA:98914
HP:0001265	Hyporeflexia	8292	COLQ	ORPHA:98915
HP:0001265	Hyporeflexia	1786	DNMT1	OMIM:614116
HP:0001265	Hyporeflexia	9499	MYOT	ORPHA:98911
HP:0001265	Hyporeflexia	9516	LITAF	OMIM:601098
HP:0001265	Hyporeflexia	9786	KIAA0586	OMIM:616546
HP:0001265	Hyporeflexia	4038	LRP4	OMIM:616304
HP:0001265	Hyporeflexia	4724	NDUFS4	OMIM:252010
HP:0001265	Hyporeflexia	23533	PIK3R5	OMIM:615217
HP:0001265	Hyporeflexia	9181	ARHGEF2	OMIM:617523
HP:0001265	Hyporeflexia	246329	STAC3	OMIM:255995
HP:0001265	Hyporeflexia	3475	IFRD1	ORPHA:98771
HP:0001265	Hyporeflexia	23769	FLRT1	ORPHA:320406
HP:0001265	Hyporeflexia	64837	KLC2	ORPHA:320406
HP:0001265	Hyporeflexia	3315	HSPB1	OMIM:608634
HP:0001265	Hyporeflexia	122622	ADSS1	OMIM:617030
HP:0001265	Hyporeflexia	25923	ATL3	OMIM:615632
HP:0001265	Hyporeflexia	6709	SPTAN1	OMIM:620528
HP:0001265	Hyporeflexia	5582	PRKCG	ORPHA:98763
HP:0001265	Hyporeflexia	8139	GAN	OMIM:256850
HP:0001265	Hyporeflexia	1674	DES	OMIM:601419
HP:0001265	Hyporeflexia	9517	SPTLC2	OMIM:613640
HP:0001265	Hyporeflexia	22868	FASTKD2	OMIM:618855
HP:0001265	Hyporeflexia	6786	STIM1	OMIM:160565
HP:0001265	Hyporeflexia	11155	LDB3	OMIM:609452
HP:0001265	Hyporeflexia	81545	FBXO38	OMIM:615575
HP:0001265	Hyporeflexia	8291	DYSF	OMIM:254130
HP:0001265	Hyporeflexia	200205	IBA57	ORPHA:468661
HP:0001265	Hyporeflexia	5165	PDK3	OMIM:300905
HP:0001265	Hyporeflexia	3032	HADHB	ORPHA:746
HP:0001265	Hyporeflexia	3030	HADHA	ORPHA:746
HP:0001265	Hyporeflexia	10516	FBLN5	OMIM:608895
HP:0001265	Hyporeflexia	10079	ATP9A	OMIM:620242
HP:0001265	Hyporeflexia	51	ACOX1	OMIM:618960
HP:0001265	Hyporeflexia	8869	ST3GAL5	OMIM:609056
HP:0002380	Fasciculations	9131	AIFM1	ORPHA:238329
HP:0002380	Fasciculations	9131	AIFM1	OMIM:300816
HP:0002380	Fasciculations	11340	EXOSC8	OMIM:616081
HP:0002380	Fasciculations	11340	EXOSC8	ORPHA:2254
HP:0002380	Fasciculations	23287	AGTPBP1	ORPHA:2254
HP:0002380	Fasciculations	23287	AGTPBP1	OMIM:618276
HP:0002380	Fasciculations	51010	EXOSC3	ORPHA:2254
HP:0002380	Fasciculations	51010	EXOSC3	OMIM:614678
HP:0002380	Fasciculations	91137	SLC25A46	ORPHA:2254
HP:0002380	Fasciculations	6606	SMN1	OMIM:271150
HP:0002380	Fasciculations	6606	SMN1	OMIM:253400
HP:0002380	Fasciculations	6606	SMN1	OMIM:253550
HP:0002380	Fasciculations	6606	SMN1	OMIM:253300
HP:0002380	Fasciculations	8087	FXR1	OMIM:618822
HP:0002380	Fasciculations	8087	FXR1	OMIM:618823
HP:0002380	Fasciculations	6607	SMN2	OMIM:253400
HP:0002380	Fasciculations	79581	SLC52A2	OMIM:614707
HP:0002380	Fasciculations	7259	TSPYL1	OMIM:608800
HP:0002380	Fasciculations	84466	MEGF10	OMIM:614399
HP:0002380	Fasciculations	10558	SPTLC1	OMIM:162400
HP:0002380	Fasciculations	10558	SPTLC1	OMIM:620285
HP:0002380	Fasciculations	427	ASAH1	OMIM:159950
HP:0002380	Fasciculations	23250	ATP11A	OMIM:619851
HP:0002380	Fasciculations	4724	NDUFS4	OMIM:252010
HP:0002380	Fasciculations	7317	UBA1	ORPHA:1145
HP:0002380	Fasciculations	7317	UBA1	OMIM:301830
HP:0002380	Fasciculations	64856	VWA1	OMIM:619216
HP:0002380	Fasciculations	203190	LGI3	OMIM:620007
HP:0002380	Fasciculations	55005	RMND1	OMIM:614922
HP:0002380	Fasciculations	773	CACNA1A	ORPHA:569
HP:0002380	Fasciculations	112476	PRRT2	ORPHA:569
HP:0002380	Fasciculations	6323	SCN1A	ORPHA:569
HP:0002380	Fasciculations	477	ATP1A2	ORPHA:569
HP:0002380	Fasciculations	79628	SH3TC2	OMIM:601596
HP:0002380	Fasciculations	79628	SH3TC2	ORPHA:99949
HP:0002380	Fasciculations	54936	ADPRS	OMIM:618170
HP:0002380	Fasciculations	127833	SYT2	OMIM:619461
HP:0002380	Fasciculations	51305	KCNK9	ORPHA:166108
HP:0002380	Fasciculations	58497	PRUNE1	ORPHA:544469
HP:0002380	Fasciculations	89874	SLC25A21	OMIM:618811
HP:0002380	Fasciculations	5376	PMP22	OMIM:145900
HP:0002380	Fasciculations	4359	MPZ	OMIM:145900
HP:0002380	Fasciculations	1959	EGR2	OMIM:145900
HP:0002380	Fasciculations	57716	PRX	OMIM:145900
HP:0002380	Fasciculations	113278	SLC52A3	OMIM:211530
HP:0002380	Fasciculations	10749	KIF1C	ORPHA:397946
HP:0002380	Fasciculations	10749	KIF1C	OMIM:611302
HP:0002380	Fasciculations	1410	CRYAB	OMIM:608810
HP:0002380	Fasciculations	4287	ATXN3	OMIM:109150
HP:0002380	Fasciculations	1938	EEF2	ORPHA:101112
HP:0002380	Fasciculations	5393	EXOSC9	OMIM:618065
HP:0002380	Fasciculations	23345	SYNE1	ORPHA:88644
HP:0002380	Fasciculations	4593	MUSK	OMIM:616325
HP:0002380	Fasciculations	22880	MORC2	OMIM:616688
HP:0002380	Fasciculations	22880	MORC2	ORPHA:466768
HP:0002380	Fasciculations	3315	HSPB1	OMIM:606595
HP:0002380	Fasciculations	2521	FUS	ORPHA:275872
HP:0002380	Fasciculations	2521	FUS	OMIM:608030
HP:0002380	Fasciculations	2521	FUS	ORPHA:803
HP:0002380	Fasciculations	8878	SQSTM1	ORPHA:275872
HP:0002380	Fasciculations	8878	SQSTM1	ORPHA:803
HP:0002380	Fasciculations	8878	SQSTM1	ORPHA:275864
HP:0002380	Fasciculations	8878	SQSTM1	OMIM:616437
HP:0002380	Fasciculations	7415	VCP	ORPHA:275872
HP:0002380	Fasciculations	7415	VCP	ORPHA:52430
HP:0002380	Fasciculations	7415	VCP	ORPHA:329478
HP:0002380	Fasciculations	7415	VCP	OMIM:613954
HP:0002380	Fasciculations	7415	VCP	ORPHA:803
HP:0002380	Fasciculations	7415	VCP	ORPHA:275864
HP:0002380	Fasciculations	23435	TARDBP	ORPHA:275872
HP:0002380	Fasciculations	23435	TARDBP	ORPHA:803
HP:0002380	Fasciculations	29110	TBK1	ORPHA:275872
HP:0002380	Fasciculations	29110	TBK1	ORPHA:803
HP:0002380	Fasciculations	29110	TBK1	OMIM:616439
HP:0002380	Fasciculations	400916	CHCHD10	ORPHA:275872
HP:0002380	Fasciculations	400916	CHCHD10	OMIM:615048
HP:0002380	Fasciculations	400916	CHCHD10	ORPHA:803
HP:0002380	Fasciculations	400916	CHCHD10	ORPHA:276435
HP:0002380	Fasciculations	7879	RAB7A	OMIM:600882
HP:0002380	Fasciculations	3074	HEXB	ORPHA:309162
HP:0002380	Fasciculations	3074	HEXB	ORPHA:309169
HP:0002380	Fasciculations	3074	HEXB	OMIM:268800
HP:0002380	Fasciculations	55187	VPS13D	OMIM:607317
HP:0002380	Fasciculations	55187	VPS13D	ORPHA:95434
HP:0002380	Fasciculations	6647	SOD1	OMIM:618598
HP:0002380	Fasciculations	6647	SOD1	ORPHA:803
HP:0002380	Fasciculations	6647	SOD1	OMIM:105400
HP:0002380	Fasciculations	6311	ATXN2	OMIM:183090
HP:0002380	Fasciculations	6311	ATXN2	ORPHA:98756
HP:0002380	Fasciculations	6311	ATXN2	ORPHA:803
HP:0002380	Fasciculations	10613	ERLIN1	OMIM:615681
HP:0002380	Fasciculations	10528	NOP56	OMIM:614153
HP:0002380	Fasciculations	10528	NOP56	ORPHA:276198
HP:0002380	Fasciculations	5660	PSAP	OMIM:611721
HP:0002380	Fasciculations	90678	LRSAM1	OMIM:614436
HP:0002380	Fasciculations	10342	TFG	OMIM:604484
HP:0002380	Fasciculations	7443	VRK1	OMIM:607596
HP:0002380	Fasciculations	6785	ELOVL4	OMIM:133190
HP:0002380	Fasciculations	3178	HNRNPA1	ORPHA:52430
HP:0002380	Fasciculations	3178	HNRNPA1	ORPHA:803
HP:0002380	Fasciculations	3181	HNRNPA2B1	ORPHA:52430
HP:0002380	Fasciculations	6310	ATXN1	ORPHA:98755
HP:0002380	Fasciculations	6310	ATXN1	OMIM:164400
HP:0002380	Fasciculations	57104	PNPLA2	OMIM:610717
HP:0002380	Fasciculations	57104	PNPLA2	ORPHA:98908
HP:0002380	Fasciculations	487	ATP2A1	OMIM:601003
HP:0002380	Fasciculations	6904	TBCD	ORPHA:496641
HP:0002380	Fasciculations	55129	ANO10	ORPHA:284289
HP:0002380	Fasciculations	55129	ANO10	OMIM:613728
HP:0002380	Fasciculations	3094	HINT1	OMIM:137200
HP:0002380	Fasciculations	23299	BICD2	OMIM:615290
HP:0002380	Fasciculations	7345	UCHL1	OMIM:615491
HP:0002380	Fasciculations	2717	GLA	OMIM:301500
HP:0002380	Fasciculations	182	JAG1	OMIM:619574
HP:0002380	Fasciculations	81545	FBXO38	OMIM:615575
HP:0002380	Fasciculations	4358	MPV17	OMIM:256810
HP:0002380	Fasciculations	10133	OPTN	OMIM:613435
HP:0002380	Fasciculations	10133	OPTN	ORPHA:803
HP:0002380	Fasciculations	311	ANXA11	OMIM:619733
HP:0002380	Fasciculations	311	ANXA11	ORPHA:803
HP:0002380	Fasciculations	55681	SCYL2	ORPHA:1143
HP:0002380	Fasciculations	84570	COL25A1	ORPHA:1143
HP:0002380	Fasciculations	57222	ERGIC1	ORPHA:1143
HP:0002380	Fasciculations	400569	MED11	OMIM:620327
HP:0002380	Fasciculations	6261	RYR1	ORPHA:324581
HP:0002380	Fasciculations	10229	COQ7	OMIM:620402
HP:0002380	Fasciculations	9997	SCO2	ORPHA:521411
HP:0002380	Fasciculations	4141	MARS1	OMIM:620323
HP:0002380	Fasciculations	25978	CHMP2B	ORPHA:803
HP:0002380	Fasciculations	25978	CHMP2B	ORPHA:275864
HP:0002380	Fasciculations	8148	TAF15	ORPHA:803
HP:0002380	Fasciculations	5445	PON2	ORPHA:803
HP:0002380	Fasciculations	9217	VAPB	ORPHA:803
HP:0002380	Fasciculations	9217	VAPB	ORPHA:209335
HP:0002380	Fasciculations	9217	VAPB	OMIM:608627
HP:0002380	Fasciculations	9217	VAPB	OMIM:182980
HP:0002380	Fasciculations	5630	PRPH	ORPHA:803
HP:0002380	Fasciculations	5630	PRPH	OMIM:105400
HP:0002380	Fasciculations	55830	GLT8D1	ORPHA:803
HP:0002380	Fasciculations	755	CFAP410	ORPHA:803
HP:0002380	Fasciculations	10891	PPARGC1A	ORPHA:803
HP:0002380	Fasciculations	1639	DCTN1	ORPHA:803
HP:0002380	Fasciculations	1639	DCTN1	OMIM:105400
HP:0002380	Fasciculations	9896	FIG4	ORPHA:803
HP:0002380	Fasciculations	5444	PON1	ORPHA:803
HP:0002380	Fasciculations	5446	PON3	ORPHA:803
HP:0002380	Fasciculations	4744	NEFH	ORPHA:803
HP:0002380	Fasciculations	4744	NEFH	OMIM:105400
HP:0002380	Fasciculations	5216	PFN1	ORPHA:803
HP:0002380	Fasciculations	5216	PFN1	OMIM:614808
HP:0002380	Fasciculations	9782	MATR3	ORPHA:803
HP:0002380	Fasciculations	54209	TREM2	ORPHA:803
HP:0002380	Fasciculations	54209	TREM2	ORPHA:275864
HP:0002380	Fasciculations	283	ANG	ORPHA:803
HP:0002380	Fasciculations	29978	UBQLN2	ORPHA:803
HP:0002380	Fasciculations	2733	GLE1	ORPHA:803
HP:0002380	Fasciculations	4750	NEK1	ORPHA:803
HP:0002380	Fasciculations	1610	DAO	ORPHA:803
HP:0002380	Fasciculations	2066	ERBB4	ORPHA:803
HP:0002380	Fasciculations	23025	UNC13A	ORPHA:803
HP:0002380	Fasciculations	899	CCNF	ORPHA:803
HP:0002380	Fasciculations	899	CCNF	OMIM:619141
HP:0002380	Fasciculations	80208	SPG11	OMIM:602099
HP:0002380	Fasciculations	27072	VPS41	ORPHA:95434
HP:0002380	Fasciculations	57531	HACE1	ORPHA:464282
HP:0002380	Fasciculations	114034	TOE1	ORPHA:284339
HP:0002380	Fasciculations	9562	MINPP1	ORPHA:284339
HP:0002380	Fasciculations	6329	SCN4A	ORPHA:682
HP:0002380	Fasciculations	2743	GLRB	ORPHA:3197
HP:0002380	Fasciculations	2741	GLRA1	ORPHA:3197
HP:0002380	Fasciculations	10243	GPHN	ORPHA:3197
HP:0002380	Fasciculations	84896	ATAD1	ORPHA:3197
HP:0002380	Fasciculations	9152	SLC6A5	ORPHA:3197
HP:0002380	Fasciculations	65250	CPLANE1	ORPHA:65684
HP:0002380	Fasciculations	57562	CEP126	ORPHA:65684
HP:0002380	Fasciculations	4771	NF2	ORPHA:93921
HP:0002380	Fasciculations	6598	SMARCB1	ORPHA:93921
HP:0002380	Fasciculations	51004	COQ6	ORPHA:93921
HP:0002380	Fasciculations	8216	LZTR1	ORPHA:93921
HP:0002380	Fasciculations	5663	PSEN1	ORPHA:275864
HP:0002380	Fasciculations	2896	GRN	ORPHA:275864
HP:0002380	Fasciculations	54664	TMEM106B	ORPHA:275864
HP:0002380	Fasciculations	4137	MAPT	ORPHA:275864
HP:0002380	Fasciculations	367	AR	OMIM:313200
HP:0002380	Fasciculations	1756	DMD	ORPHA:206546
HP:0002380	Fasciculations	4747	NEFL	ORPHA:101085
HP:0002380	Fasciculations	29967	LRP12	OMIM:620452
HP:0002380	Fasciculations	23258	DENND5A	OMIM:617281
HP:0002380	Fasciculations	54902	TTC19	OMIM:615157
HP:0002380	Fasciculations	25814	ATXN10	OMIM:603516
HP:0001266	Choreoathetosis	9361	LONP1	OMIM:600373
HP:0001266	Choreoathetosis	4594	MMUT	ORPHA:289916
HP:0001266	Choreoathetosis	4594	MMUT	ORPHA:79312
HP:0001266	Choreoathetosis	26235	FBXL4	OMIM:615471
HP:0001266	Choreoathetosis	53371	NUP54	OMIM:620427
HP:0001266	Choreoathetosis	53371	NUP54	ORPHA:225154
HP:0001266	Choreoathetosis	6513	SLC2A1	OMIM:612126
HP:0001266	Choreoathetosis	6513	SLC2A1	OMIM:601042
HP:0001266	Choreoathetosis	6513	SLC2A1	ORPHA:98811
HP:0001266	Choreoathetosis	6513	SLC2A1	OMIM:606777
HP:0001266	Choreoathetosis	6513	SLC2A1	ORPHA:53583
HP:0001266	Choreoathetosis	6513	SLC2A1	ORPHA:71277
HP:0001266	Choreoathetosis	478	ATP1A3	OMIM:614820
HP:0001266	Choreoathetosis	478	ATP1A3	ORPHA:2131
HP:0001266	Choreoathetosis	6323	SCN1A	OMIM:619317
HP:0001266	Choreoathetosis	1119	CHKA	OMIM:620023
HP:0001266	Choreoathetosis	170302	ARX	OMIM:308350
HP:0001266	Choreoathetosis	170302	ARX	ORPHA:1934
HP:0001266	Choreoathetosis	81570	CLPB	ORPHA:445038
HP:0001266	Choreoathetosis	81570	CLPB	OMIM:616271
HP:0001266	Choreoathetosis	57165	GJC2	OMIM:608804
HP:0001266	Choreoathetosis	1822	ATN1	OMIM:125370
HP:0001266	Choreoathetosis	1822	ATN1	ORPHA:101
HP:0001266	Choreoathetosis	65993	MRPS34	OMIM:617664
HP:0001266	Choreoathetosis	80207	OPA3	ORPHA:67047
HP:0001266	Choreoathetosis	125988	MICOS13	ORPHA:67047
HP:0001266	Choreoathetosis	5160	PDHA1	OMIM:312170
HP:0001266	Choreoathetosis	472	ATM	OMIM:208900
HP:0001266	Choreoathetosis	79133	NDUFAF5	OMIM:618238
HP:0001266	Choreoathetosis	5610	EIF2AK2	OMIM:618877
HP:0001266	Choreoathetosis	84520	GON7	OMIM:619603
HP:0001266	Choreoathetosis	1644	DDC	OMIM:608643
HP:0001266	Choreoathetosis	3736	KCNA1	ORPHA:37612
HP:0001266	Choreoathetosis	3736	KCNA1	ORPHA:1934
HP:0001266	Choreoathetosis	55768	NGLY1	ORPHA:404454
HP:0001266	Choreoathetosis	8869	ST3GAL5	OMIM:609056
HP:0001266	Choreoathetosis	87178	PNPT1	ORPHA:319514
HP:0001266	Choreoathetosis	87178	PNPT1	OMIM:614932
HP:0001266	Choreoathetosis	4694	NDUFA1	OMIM:301020
HP:0001266	Choreoathetosis	55250	ELP2	OMIM:617270
HP:0001266	Choreoathetosis	4204	MECP2	OMIM:300055
HP:0001266	Choreoathetosis	4704	NDUFA9	OMIM:618247
HP:0001266	Choreoathetosis	116228	COX20	OMIM:619054
HP:0001266	Choreoathetosis	23732	FRRS1L	OMIM:616981
HP:0001266	Choreoathetosis	64207	IRF2BPL	OMIM:618088
HP:0001266	Choreoathetosis	3054	HCFC1	OMIM:309541
HP:0001266	Choreoathetosis	51079	NDUFA13	OMIM:618249
HP:0001266	Choreoathetosis	7920	ABHD16A	OMIM:619735
HP:0001266	Choreoathetosis	114034	TOE1	OMIM:614969
HP:0001266	Choreoathetosis	2074	ERCC6	OMIM:278800
HP:0001266	Choreoathetosis	5428	POLG	ORPHA:726
HP:0001266	Choreoathetosis	7080	NKX2-1	ORPHA:209905
HP:0001266	Choreoathetosis	7080	NKX2-1	OMIM:610978
HP:0001266	Choreoathetosis	4361	MRE11	OMIM:604391
HP:0001266	Choreoathetosis	6821	SUOX	OMIM:272300
HP:0001266	Choreoathetosis	5805	PTS	ORPHA:13
HP:0001266	Choreoathetosis	5805	PTS	OMIM:261640
HP:0001266	Choreoathetosis	2898	GRIK2	OMIM:619580
HP:0001266	Choreoathetosis	10715	CERS1	OMIM:616230
HP:0001266	Choreoathetosis	774	CACNA1B	OMIM:618497
HP:0001266	Choreoathetosis	8802	SUCLG1	ORPHA:17
HP:0001266	Choreoathetosis	54664	TMEM106B	OMIM:617964
HP:0001266	Choreoathetosis	284439	SLC25A42	OMIM:618416
HP:0001266	Choreoathetosis	10382	TUBB4A	OMIM:612438
HP:0001266	Choreoathetosis	112476	PRRT2	ORPHA:98811
HP:0001266	Choreoathetosis	112476	PRRT2	ORPHA:98810
HP:0001266	Choreoathetosis	112476	PRRT2	ORPHA:31709
HP:0001266	Choreoathetosis	26834	RNU4-2	OMIM:620851
HP:0001266	Choreoathetosis	6697	SPR	OMIM:612716
HP:0001266	Choreoathetosis	25953	PNKD	ORPHA:98810
HP:0001266	Choreoathetosis	3028	HSD17B10	ORPHA:391428
HP:0001266	Choreoathetosis	3028	HSD17B10	OMIM:300438
HP:0001266	Choreoathetosis	2512	FTL	OMIM:606159
HP:0001266	Choreoathetosis	10367	MICU1	OMIM:615673
HP:0001266	Choreoathetosis	6812	STXBP1	OMIM:612164
HP:0001266	Choreoathetosis	23533	PIK3R5	ORPHA:64753
HP:0001266	Choreoathetosis	23064	SETX	ORPHA:64753
HP:0001266	Choreoathetosis	92609	TIMM50	OMIM:617698
HP:0001266	Choreoathetosis	2643	GCH1	OMIM:233910
HP:0001266	Choreoathetosis	773	CACNA1A	ORPHA:2131
HP:0001266	Choreoathetosis	6507	SLC1A3	ORPHA:2131
HP:0001266	Choreoathetosis	477	ATP1A2	ORPHA:2131
HP:0001266	Choreoathetosis	477	ATP1A2	OMIM:104290
HP:0001266	Choreoathetosis	80036	TRPM3	OMIM:620224
HP:0001266	Choreoathetosis	80025	PANK2	OMIM:234200
HP:0001266	Choreoathetosis	7507	XPA	OMIM:278700
HP:0001266	Choreoathetosis	111	ADCY5	OMIM:606703
HP:0001266	Choreoathetosis	1737	DLAT	OMIM:245348
HP:0001266	Choreoathetosis	3251	HPRT1	OMIM:300322
HP:0001266	Choreoathetosis	5138	PDE2A	ORPHA:31709
HP:0001266	Choreoathetosis	6334	SCN8A	ORPHA:31709
HP:0001266	Choreoathetosis	60558	GUF1	OMIM:617065
HP:0001266	Choreoathetosis	6857	SYT1	ORPHA:522077
HP:0001266	Choreoathetosis	6857	SYT1	OMIM:618218
HP:0001266	Choreoathetosis	2566	GABRG2	OMIM:618396
HP:0001266	Choreoathetosis	283989	TSEN54	ORPHA:2524
HP:0001266	Choreoathetosis	116461	TSEN15	ORPHA:2524
HP:0001266	Choreoathetosis	79042	TSEN34	ORPHA:2524
HP:0001266	Choreoathetosis	80746	TSEN2	ORPHA:2524
HP:0001266	Choreoathetosis	51091	SEPSECS	ORPHA:2524
HP:0001266	Choreoathetosis	9213	XPR1	OMIM:616413
HP:0001266	Choreoathetosis	54676	GTPBP2	OMIM:617988
HP:0001266	Choreoathetosis	23556	PIGN	OMIM:614080
HP:0001266	Choreoathetosis	4508	MT-ATP6	ORPHA:225154
HP:0001266	Choreoathetosis	23636	NUP62	ORPHA:225154
HP:0001266	Choreoathetosis	23636	NUP62	OMIM:271930
HP:0001266	Choreoathetosis	103	ADAR	ORPHA:225154
HP:0001266	Choreoathetosis	5354	PLP1	OMIM:312080
HP:0001266	Choreoathetosis	7143	TNR	OMIM:619653
HP:0001266	Choreoathetosis	10463	SLC30A9	OMIM:617595
HP:0001266	Choreoathetosis	5455	POU3F3	OMIM:618604
HP:0001266	Choreoathetosis	133686	NADK2	ORPHA:431361
HP:0001266	Choreoathetosis	133686	NADK2	OMIM:616034
HP:0001266	Choreoathetosis	23219	FBXO28	OMIM:619777
HP:0001266	Choreoathetosis	9439	MED23	OMIM:614249
HP:0001266	Choreoathetosis	256472	TMEM151A	OMIM:620245
HP:0001266	Choreoathetosis	57731	SPTBN4	OMIM:617519
HP:0001266	Choreoathetosis	2778	GNAS	ORPHA:79443
HP:0001266	Choreoathetosis	2639	GCDH	OMIM:231670
HP:0001266	Choreoathetosis	6567	SLC16A2	ORPHA:59
HP:0001266	Choreoathetosis	80067	DCAF17	OMIM:241080
HP:0001266	Choreoathetosis	25970	SH2B1	ORPHA:261197
HP:0001266	Choreoathetosis	5860	QDPR	OMIM:261630
HP:0001266	Choreoathetosis	10533	ATG7	OMIM:619422
HP:0001266	Choreoathetosis	3658	IREB2	OMIM:618451
HP:0001266	Choreoathetosis	3329	HSPD1	OMIM:612233
HP:0001266	Choreoathetosis	284111	SLC13A5	OMIM:615905
HP:0001266	Choreoathetosis	8905	AP1S2	OMIM:304340
HP:0001266	Choreoathetosis	6792	CDKL5	ORPHA:1934
HP:0001266	Choreoathetosis	9091	PIGQ	ORPHA:1934
HP:0001266	Choreoathetosis	140679	SLC32A1	ORPHA:1934
HP:0001266	Choreoathetosis	2775	GNAO1	ORPHA:1934
HP:0001266	Choreoathetosis	81603	TRIM8	ORPHA:1934
HP:0001266	Choreoathetosis	2902	GRIN1	ORPHA:1934
HP:0001266	Choreoathetosis	79751	SLC25A22	ORPHA:1934
HP:0001266	Choreoathetosis	150094	SIK1	ORPHA:1934
HP:0001266	Choreoathetosis	8573	CASK	ORPHA:1934
HP:0001266	Choreoathetosis	23312	DMXL2	ORPHA:1934
HP:0001266	Choreoathetosis	2917	GRM7	ORPHA:1934
HP:0001266	Choreoathetosis	11284	PNKP	ORPHA:1934
HP:0001266	Choreoathetosis	6326	SCN2A	ORPHA:1934
HP:0001266	Choreoathetosis	51227	PIGP	ORPHA:1934
HP:0001266	Choreoathetosis	6324	SCN1B	ORPHA:1934
HP:0001266	Choreoathetosis	4761	NEUROD2	ORPHA:1934
HP:0001266	Choreoathetosis	2068	ERCC2	OMIM:278730
HP:0001266	Choreoathetosis	23230	VPS13A	OMIM:200150
HP:0020045	Esodeviation	8322	FZD4	OMIM:133780
HP:0020045	Esodeviation	4041	LRP5	OMIM:133780
HP:0020045	Esodeviation	9949	AMMECR1	OMIM:300990
HP:0020045	Esodeviation	6095	RORA	OMIM:618060
HP:0020045	Esodeviation	50964	SOST	OMIM:269500
HP:0020045	Esodeviation	22827	PUF60	ORPHA:508498
HP:0020045	Esodeviation	340533	NEXMIF	OMIM:300912
HP:0020045	Esodeviation	340533	NEXMIF	ORPHA:85277
HP:0020045	Esodeviation	6477	SIAH1	OMIM:619314
HP:0020045	Esodeviation	5393	EXOSC9	OMIM:618065
HP:0020045	Esodeviation	5393	EXOSC9	ORPHA:2254
HP:0020045	Esodeviation	1859	DYRK1A	ORPHA:268261
HP:0020045	Esodeviation	23135	KDM6B	OMIM:618505
HP:0020045	Esodeviation	2895	GRID2	OMIM:616204
HP:0020045	Esodeviation	23418	CRB1	OMIM:172870
HP:0020045	Esodeviation	50484	RRM2B	ORPHA:329336
HP:0020045	Esodeviation	246243	RNASEH1	ORPHA:329336
HP:0020045	Esodeviation	55605	KIF21A	ORPHA:45358
HP:0020045	Esodeviation	55605	KIF21A	OMIM:135700
HP:0020045	Esodeviation	347733	TUBB2B	ORPHA:45358
HP:0020045	Esodeviation	7846	TUBA1A	ORPHA:45358
HP:0020045	Esodeviation	401	PHOX2A	ORPHA:45358
HP:0020045	Esodeviation	10381	TUBB3	ORPHA:45358
HP:0020045	Esodeviation	10381	TUBB3	ORPHA:300570
HP:0020045	Esodeviation	84570	COL25A1	ORPHA:45358
HP:0020045	Esodeviation	22800	RRAS2	OMIM:618624
HP:0020045	Esodeviation	51259	TMEM216	OMIM:608091
HP:0020045	Esodeviation	51259	TMEM216	ORPHA:2754
HP:0020045	Esodeviation	5428	POLG	OMIM:258450
HP:0020045	Esodeviation	79796	ALG9	OMIM:608776
HP:0020045	Esodeviation	79796	ALG9	ORPHA:79328
HP:0020045	Esodeviation	9839	ZEB2	OMIM:235730
HP:0020045	Esodeviation	100033413	SNORD116-1	OMIM:176270
HP:0020045	Esodeviation	8924	HERC2	OMIM:176270
HP:0020045	Esodeviation	23742	NPAP1	OMIM:176270
HP:0020045	Esodeviation	338433	SNORD115-1	OMIM:176270
HP:0020045	Esodeviation	54551	MAGEL2	OMIM:176270
HP:0020045	Esodeviation	54551	MAGEL2	ORPHA:398069
HP:0020045	Esodeviation	54551	MAGEL2	OMIM:615547
HP:0020045	Esodeviation	7681	MKRN3	OMIM:176270
HP:0020045	Esodeviation	145624	PWAR1	OMIM:176270
HP:0020045	Esodeviation	3653	IPW	OMIM:176270
HP:0020045	Esodeviation	791114	PWRN1	OMIM:176270
HP:0020045	Esodeviation	1303	COL12A1	ORPHA:75840
HP:0020045	Esodeviation	1291	COL6A1	ORPHA:75840
HP:0020045	Esodeviation	1293	COL6A3	ORPHA:75840
HP:0020045	Esodeviation	6720	SREBF1	OMIM:158310
HP:0020045	Esodeviation	5575	PRKAR1B	OMIM:619680
HP:0020045	Esodeviation	2581	GALC	ORPHA:206443
HP:0020045	Esodeviation	388015	RTL1	ORPHA:254528
HP:0020045	Esodeviation	8788	DLK1	ORPHA:254528
HP:0020045	Esodeviation	55384	MEG3	ORPHA:254528
HP:0020045	Esodeviation	51506	UFC1	OMIM:618076
HP:0020045	Esodeviation	5830	PEX5	OMIM:202370
HP:0020045	Esodeviation	27245	AHDC1	ORPHA:412069
HP:0020045	Esodeviation	27245	AHDC1	OMIM:615829
HP:0020045	Esodeviation	2782	GNB1	OMIM:616973
HP:0020045	Esodeviation	3149	HMGB3	OMIM:300915
HP:0020045	Esodeviation	2911	GRM1	OMIM:614831
HP:0020045	Esodeviation	2911	GRM1	ORPHA:324262
HP:0020045	Esodeviation	10978	CLP1	OMIM:615803
HP:0020045	Esodeviation	64221	ROBO3	OMIM:607313
HP:0020045	Esodeviation	3778	KCNMA1	ORPHA:79137
HP:0020045	Esodeviation	473	RERE	ORPHA:494344
HP:0020045	Esodeviation	220202	ATOH7	OMIM:221900
HP:0020045	Esodeviation	55777	MBD5	OMIM:156200
HP:0020045	Esodeviation	1301	COL11A1	OMIM:154780
HP:0020045	Esodeviation	9289	ADGRG1	OMIM:606854
HP:0020045	Esodeviation	9289	ADGRG1	ORPHA:101070
HP:0020045	Esodeviation	84992	PIGY	ORPHA:247262
HP:0020045	Esodeviation	84720	PIGO	ORPHA:247262
HP:0020045	Esodeviation	93210	PGAP3	ORPHA:247262
HP:0020045	Esodeviation	284098	PIGW	ORPHA:247262
HP:0020045	Esodeviation	27315	PGAP2	ORPHA:247262
HP:0020045	Esodeviation	55650	PIGV	ORPHA:247262
HP:0020045	Esodeviation	9487	PIGL	ORPHA:247262
HP:0020045	Esodeviation	9630	GNA14	ORPHA:1063
HP:0020045	Esodeviation	56915	EXOSC5	OMIM:619576
HP:0020045	Esodeviation	64324	NSD1	OMIM:117550
HP:0020045	Esodeviation	2200	FBN1	OMIM:154700
HP:0020045	Esodeviation	64207	IRF2BPL	OMIM:618088
HP:0020045	Esodeviation	816	CAMK2B	OMIM:617799
HP:0020045	Esodeviation	93627	TBCK	OMIM:616900
HP:0020045	Esodeviation	9675	TTI1	OMIM:620445
HP:0020045	Esodeviation	29920	PYCR2	ORPHA:481152
HP:0020045	Esodeviation	259232	NALCN	ORPHA:562528
HP:0020045	Esodeviation	259232	NALCN	ORPHA:371364
HP:0020045	Esodeviation	259232	NALCN	OMIM:616266
HP:0020045	Esodeviation	5422	POLA1	OMIM:301030
HP:0020045	Esodeviation	6899	TBX1	OMIM:188400
HP:0020045	Esodeviation	6792	CDKL5	ORPHA:505652
HP:0020045	Esodeviation	10484	SEC23A	OMIM:607812
HP:0020045	Esodeviation	164	AP1G1	OMIM:619467
HP:0020045	Esodeviation	55714	TENM3	OMIM:615145
HP:0020045	Esodeviation	4761	NEUROD2	OMIM:618374
HP:0020045	Esodeviation	5144	PDE4D	ORPHA:439822
HP:0020045	Esodeviation	23065	EMC1	OMIM:616875
HP:0020045	Esodeviation	23065	EMC1	ORPHA:480898
HP:0020045	Esodeviation	26227	PHGDH	ORPHA:79351
HP:0020045	Esodeviation	6297	SALL2	OMIM:216820
HP:0020045	Esodeviation	2743	GLRB	OMIM:614619
HP:0020045	Esodeviation	7025	NR2F1	ORPHA:401777
HP:0020045	Esodeviation	9851	KIAA0753	OMIM:619476
HP:0020045	Esodeviation	9851	KIAA0753	ORPHA:2754
HP:0020045	Esodeviation	7874	USP7	ORPHA:500055
HP:0020045	Esodeviation	57498	KIDINS220	OMIM:617296
HP:0020045	Esodeviation	65250	CPLANE1	OMIM:277170
HP:0020045	Esodeviation	65250	CPLANE1	ORPHA:2754
HP:0020045	Esodeviation	1182	CLCN3	OMIM:619512
HP:0020045	Esodeviation	8270	LAGE3	OMIM:301006
HP:0020045	Esodeviation	51604	PIGT	OMIM:615398
HP:0020045	Esodeviation	5457	POU4F1	OMIM:619352
HP:0020045	Esodeviation	55773	TBC1D23	OMIM:617695
HP:0020045	Esodeviation	57680	CHD8	OMIM:615032
HP:0020045	Esodeviation	55699	IARS2	OMIM:616007
HP:0020045	Esodeviation	8363	H4C11	OMIM:619759
HP:0020045	Esodeviation	57514	ARHGAP31	OMIM:100300
HP:0020045	Esodeviation	11340	EXOSC8	ORPHA:2254
HP:0020045	Esodeviation	23287	AGTPBP1	ORPHA:2254
HP:0020045	Esodeviation	51010	EXOSC3	ORPHA:2254
HP:0020045	Esodeviation	7443	VRK1	ORPHA:2254
HP:0020045	Esodeviation	91137	SLC25A46	ORPHA:2254
HP:0020045	Esodeviation	285175	UNC80	OMIM:616801
HP:0020045	Esodeviation	285175	UNC80	ORPHA:371364
HP:0020045	Esodeviation	3211	HOXB1	OMIM:614744
HP:0020045	Esodeviation	773	CACNA1A	ORPHA:2131
HP:0020045	Esodeviation	773	CACNA1A	OMIM:617106
HP:0020045	Esodeviation	6507	SLC1A3	ORPHA:2131
HP:0020045	Esodeviation	477	ATP1A2	ORPHA:2131
HP:0020045	Esodeviation	478	ATP1A3	ORPHA:2131
HP:0020045	Esodeviation	1528	CYB5A	ORPHA:621
HP:0020045	Esodeviation	5728	PTEN	ORPHA:101070
HP:0020045	Esodeviation	2255	FGF10	OMIM:620193
HP:0020045	Esodeviation	10682	EBP	OMIM:300960
HP:0020045	Esodeviation	55210	ATAD3A	ORPHA:496790
HP:0020045	Esodeviation	55210	ATAD3A	OMIM:617183
HP:0020045	Esodeviation	23556	PIGN	ORPHA:280633
HP:0020045	Esodeviation	8567	MADD	OMIM:619004
HP:0020045	Esodeviation	6857	SYT1	ORPHA:522077
HP:0020045	Esodeviation	84343	HPS3	OMIM:614072
HP:0020045	Esodeviation	388552	BLOC1S3	OMIM:614077
HP:0020045	Esodeviation	56098	PCDHGC4	OMIM:619880
HP:0020045	Esodeviation	113179	ADAT3	OMIM:615286
HP:0020045	Esodeviation	57688	ZSWIM6	OMIM:617865
HP:0020045	Esodeviation	163175	LGI4	OMIM:617468
HP:0020045	Esodeviation	60482	SLC5A7	ORPHA:98914
HP:0020045	Esodeviation	4649	MYO9A	ORPHA:98914
HP:0020045	Esodeviation	1305	COL13A1	ORPHA:98914
HP:0020045	Esodeviation	1103	CHAT	ORPHA:98914
HP:0020045	Esodeviation	6576	SLC25A1	ORPHA:98914
HP:0020045	Esodeviation	6843	VAMP1	ORPHA:98914
HP:0020045	Esodeviation	375790	AGRN	ORPHA:98914
HP:0020045	Esodeviation	127833	SYT2	ORPHA:98914
HP:0020045	Esodeviation	6572	SLC18A3	ORPHA:98914
HP:0020045	Esodeviation	6616	SNAP25	ORPHA:98914
HP:0020045	Esodeviation	471	ATIC	OMIM:608688
HP:0020045	Esodeviation	84628	NTNG2	OMIM:618718
HP:0020045	Esodeviation	1650	DDOST	ORPHA:300536
HP:0020045	Esodeviation	5295	PIK3R1	OMIM:269880
HP:0020045	Esodeviation	54802	TRIT1	OMIM:617873
HP:0020045	Esodeviation	23154	NCDN	OMIM:619373
HP:0020045	Esodeviation	6651	SON	ORPHA:500150
HP:0020045	Esodeviation	55084	SOBP	OMIM:613671
HP:0020045	Esodeviation	1284	COL4A2	OMIM:614483
HP:0020045	Esodeviation	11152	WDR45	OMIM:615179
HP:0020045	Esodeviation	83938	LRMDA	OMIM:615179
HP:0020045	Esodeviation	84168	ANTXR1	OMIM:230740
HP:0020045	Esodeviation	23219	FBXO28	OMIM:619777
HP:0020045	Esodeviation	2961	GTF2E2	OMIM:616943
HP:0020045	Esodeviation	2961	GTF2E2	ORPHA:33364
HP:0020045	Esodeviation	404672	GTF2H5	ORPHA:33364
HP:0020045	Esodeviation	833	CARS1	ORPHA:33364
HP:0020045	Esodeviation	2068	ERCC2	ORPHA:33364
HP:0020045	Esodeviation	7737	RNF113A	ORPHA:33364
HP:0020045	Esodeviation	136647	MPLKIP	ORPHA:33364
HP:0020045	Esodeviation	6897	TARS1	ORPHA:33364
HP:0020045	Esodeviation	2071	ERCC3	ORPHA:33364
HP:0020045	Esodeviation	8813	DPM1	ORPHA:79322
HP:0020045	Esodeviation	79583	TMEM231	ORPHA:2754
HP:0020045	Esodeviation	10210	TOPORS	ORPHA:2754
HP:0020045	Esodeviation	26123	TCTN3	ORPHA:2754
HP:0020045	Esodeviation	5147	PDE6D	ORPHA:2754
HP:0020045	Esodeviation	8481	OFD1	ORPHA:2754
HP:0020045	Esodeviation	317662	FAM149B1	ORPHA:2754
HP:0020045	Esodeviation	374654	KIF7	ORPHA:2754
HP:0020045	Esodeviation	84978	FRMD5	OMIM:620094
HP:0020045	Esodeviation	9469	CHST3	OMIM:245600
HP:0020045	Esodeviation	26229	B3GAT3	OMIM:245600
HP:0020045	Esodeviation	129285	PPP1R21	OMIM:619383
HP:0020045	Esodeviation	2629	GBA1	OMIM:230900
HP:0020045	Esodeviation	23102	TBC1D2B	ORPHA:397973
HP:0020045	Esodeviation	5813	PURA	OMIM:616158
HP:0020045	Esodeviation	84148	KAT8	OMIM:618974
HP:0020045	Esodeviation	4654	MYOD1	OMIM:618975
HP:0020045	Esodeviation	78987	CRELD1	OMIM:620771
HP:0020045	Esodeviation	9898	UBAP2L	OMIM:620494
HP:0020045	Esodeviation	6935	ZEB1	ORPHA:98973
HP:0020045	Esodeviation	30813	VSX1	ORPHA:98973
HP:0020045	Esodeviation	58495	OVOL2	ORPHA:98973
HP:0020045	Esodeviation	79977	GRHL2	ORPHA:98973
HP:0020045	Esodeviation	1296	COL8A2	ORPHA:98973
HP:0020045	Esodeviation	9990	SLC12A6	OMIM:218000
HP:0020045	Esodeviation	10075	HUWE1	OMIM:309590
HP:0020045	Esodeviation	1804	DPP6	ORPHA:2514
HP:0020045	Esodeviation	4001	LMNB1	ORPHA:2514
HP:0020045	Esodeviation	1185	CLCN6	OMIM:619173
HP:0020045	Esodeviation	84342	COG8	ORPHA:95428
HP:0020045	Esodeviation	84342	COG8	OMIM:611182
HP:0020045	Esodeviation	8777	MPDZ	OMIM:615219
HP:0020045	Esodeviation	324	APC	ORPHA:99818
HP:0020045	Esodeviation	146167	SLC38A8	OMIM:609218
HP:0020045	Esodeviation	9578	CDC42BPB	OMIM:619841
HP:0020045	Esodeviation	5528	PPP2R5D	ORPHA:457279
HP:0020045	Esodeviation	92255	LMBRD2	OMIM:619694
HP:0020045	Esodeviation	84065	TMEM222	OMIM:619470
HP:0020045	Esodeviation	16	AARS1	OMIM:619691
HP:0020045	Esodeviation	10128	LRPPRC	OMIM:220111
HP:0020045	Esodeviation	1727	CYB5R3	OMIM:250800
HP:0020045	Esodeviation	11212	PLPBP	OMIM:617290
HP:0020045	Esodeviation	85365	ALG2	OMIM:607906
HP:0020045	Esodeviation	440	ASNS	OMIM:615574
HP:0020045	Esodeviation	5193	PEX12	OMIM:266510
HP:0020045	Esodeviation	54517	PUS7	OMIM:618342
HP:0020045	Esodeviation	80204	FBXO11	OMIM:618089
HP:0020045	Esodeviation	5119	CHMP1A	OMIM:614961
HP:0020045	Esodeviation	79797	ZNF408	OMIM:616468
HP:0020045	Esodeviation	2186	BPTF	OMIM:617755
HP:0020045	Esodeviation	1292	COL6A2	OMIM:620727
HP:0020045	Esodeviation	191	AHCY	OMIM:613752
HP:0020045	Esodeviation	7994	KAT6A	OMIM:616268
HP:0020045	Esodeviation	23314	SATB2	ORPHA:251028
HP:0020045	Esodeviation	9894	TELO2	ORPHA:488642
HP:0020045	Esodeviation	55325	UFSP2	OMIM:620028
HP:0020045	Esodeviation	8364	H4C3	OMIM:619758
HP:0020045	Esodeviation	10060	ABCC9	OMIM:619719
HP:0020045	Esodeviation	93986	FOXP2	ORPHA:251061
HP:0020045	Esodeviation	79087	ALG12	OMIM:607143
HP:0020045	Esodeviation	1737	DLAT	OMIM:245348
HP:0020045	Esodeviation	55610	VPS50	OMIM:619685
HP:0020045	Esodeviation	84842	HPDL	OMIM:619026
HP:0020045	Esodeviation	27077	B9D1	OMIM:617120
HP:0020045	Esodeviation	5058	PAK1	OMIM:618158
HP:0020045	Esodeviation	2703	GJA8	OMIM:612474
HP:0020045	Esodeviation	2702	GJA5	OMIM:612474
HP:0020045	Esodeviation	83479	DDX59	OMIM:174300
HP:0020045	Esodeviation	55367	PIDD1	OMIM:619827
HP:0020045	Esodeviation	1642	DDB1	OMIM:619426
HP:0020045	Esodeviation	3708	ITPR1	OMIM:117360
HP:0020045	Esodeviation	57466	SCAF4	OMIM:620511
HP:0020045	Esodeviation	9382	COG1	OMIM:611209
HP:0020045	Esodeviation	6329	SCN4A	OMIM:620351
HP:0020045	Esodeviation	5297	PI4KA	OMIM:619708
HP:0020045	Esodeviation	5373	PMM2	OMIM:212065
HP:0020045	Esodeviation	55343	SLC35C1	ORPHA:99843
HP:0020045	Esodeviation	10093	ARPC4	OMIM:620141
HP:0020045	Esodeviation	51102	MECR	OMIM:617282
HP:0020045	Esodeviation	51102	MECR	ORPHA:508093
HP:0020045	Esodeviation	6334	SCN8A	OMIM:614306
HP:0020045	Esodeviation	9968	MED12	OMIM:301068
HP:0020046	Accommodative esotropia	6899	TBX1	OMIM:188400
HP:0020046	Accommodative esotropia	10093	ARPC4	OMIM:620141
HP:0020046	Accommodative esotropia	9968	MED12	OMIM:301068
HP:0020049	Exodeviation	6535	SLC6A8	OMIM:300352
HP:0020049	Exodeviation	23394	ADNP	ORPHA:404448
HP:0020049	Exodeviation	104	ADARB1	OMIM:618862
HP:0020049	Exodeviation	6477	SIAH1	OMIM:619314
HP:0020049	Exodeviation	23135	KDM6B	OMIM:618505
HP:0020049	Exodeviation	7299	TYR	OMIM:203100
HP:0020049	Exodeviation	9289	ADGRG1	OMIM:615752
HP:0020049	Exodeviation	9289	ADGRG1	OMIM:606854
HP:0020049	Exodeviation	79912	PYROXD1	OMIM:617258
HP:0020049	Exodeviation	7355	SLC35A2	ORPHA:356961
HP:0020049	Exodeviation	55605	KIF21A	ORPHA:45358
HP:0020049	Exodeviation	55605	KIF21A	OMIM:135700
HP:0020049	Exodeviation	347733	TUBB2B	ORPHA:45358
HP:0020049	Exodeviation	7846	TUBA1A	ORPHA:45358
HP:0020049	Exodeviation	401	PHOX2A	ORPHA:45358
HP:0020049	Exodeviation	401	PHOX2A	OMIM:602078
HP:0020049	Exodeviation	10381	TUBB3	ORPHA:45358
HP:0020049	Exodeviation	10381	TUBB3	OMIM:600638
HP:0020049	Exodeviation	84570	COL25A1	ORPHA:45358
HP:0020049	Exodeviation	1798	DPAGT1	OMIM:608093
HP:0020049	Exodeviation	1798	DPAGT1	ORPHA:86309
HP:0020049	Exodeviation	55325	UFSP2	OMIM:620028
HP:0020049	Exodeviation	23028	KDM1A	OMIM:616728
HP:0020049	Exodeviation	23028	KDM1A	ORPHA:477993
HP:0020049	Exodeviation	778	CACNA1F	OMIM:300071
HP:0020049	Exodeviation	91147	TMEM67	OMIM:602152
HP:0020049	Exodeviation	10093	ARPC4	OMIM:620141
HP:0020049	Exodeviation	5631	PRPS1	ORPHA:423479
HP:0020049	Exodeviation	9227	LRAT	ORPHA:364055
HP:0020049	Exodeviation	55812	SPATA7	ORPHA:364055
HP:0020049	Exodeviation	6121	RPE65	ORPHA:364055
HP:0020049	Exodeviation	167691	LCA5	ORPHA:364055
HP:0020049	Exodeviation	6873	TAF2	ORPHA:397951
HP:0020049	Exodeviation	65993	MRPS34	OMIM:617664
HP:0020049	Exodeviation	2782	GNB1	OMIM:616973
HP:0020049	Exodeviation	998	CDC42	OMIM:616737
HP:0020049	Exodeviation	998	CDC42	ORPHA:487796
HP:0020049	Exodeviation	55768	NGLY1	ORPHA:404454
HP:0020049	Exodeviation	6660	SOX5	ORPHA:313892
HP:0020049	Exodeviation	473	RERE	ORPHA:494344
HP:0020049	Exodeviation	2200	FBN1	OMIM:154700
HP:0020049	Exodeviation	55906	ZC4H2	OMIM:314580
HP:0020049	Exodeviation	63035	BCORL1	OMIM:301029
HP:0020049	Exodeviation	10352	WARS2	OMIM:617710
HP:0020049	Exodeviation	10352	WARS2	ORPHA:572798
HP:0020049	Exodeviation	56172	ANKH	OMIM:123000
HP:0020049	Exodeviation	91137	SLC25A46	OMIM:616505
HP:0020049	Exodeviation	36	ACADSB	OMIM:610006
HP:0020049	Exodeviation	22827	PUF60	ORPHA:508488
HP:0020049	Exodeviation	6045	RNF2	OMIM:619460
HP:0020049	Exodeviation	6899	TBX1	OMIM:188400
HP:0020049	Exodeviation	6792	CDKL5	ORPHA:505652
HP:0020049	Exodeviation	23418	CRB1	OMIM:600105
HP:0020049	Exodeviation	51651	PTRH2	ORPHA:456312
HP:0020049	Exodeviation	51651	PTRH2	OMIM:616263
HP:0020049	Exodeviation	5442	POLRMT	OMIM:619743
HP:0020049	Exodeviation	54681	P4HTM	OMIM:618493
HP:0020049	Exodeviation	3188	HNRNPH2	OMIM:300986
HP:0020049	Exodeviation	2783	GNB2	OMIM:619503
HP:0020049	Exodeviation	23268	DNMBP	OMIM:618415
HP:0020049	Exodeviation	9419	CRIPT	OMIM:615789
HP:0020049	Exodeviation	6297	SALL2	OMIM:216820
HP:0020049	Exodeviation	1974	EIF4A2	OMIM:620455
HP:0020049	Exodeviation	9997	SCO2	OMIM:604377
HP:0020049	Exodeviation	9997	SCO2	ORPHA:521411
HP:0020049	Exodeviation	1947	EFNB1	OMIM:304110
HP:0020049	Exodeviation	7025	NR2F1	ORPHA:401777
HP:0020049	Exodeviation	2261	FGFR3	OMIM:616482
HP:0020049	Exodeviation	2261	FGFR3	ORPHA:2363
HP:0020049	Exodeviation	57187	THOC2	OMIM:300957
HP:0020049	Exodeviation	149371	EXOC8	OMIM:619076
HP:0020049	Exodeviation	23126	POGZ	OMIM:616364
HP:0020049	Exodeviation	94137	RP1L1	OMIM:618826
HP:0020049	Exodeviation	9255	AIMP1	OMIM:260600
HP:0020049	Exodeviation	773	CACNA1A	ORPHA:2131
HP:0020049	Exodeviation	6507	SLC1A3	ORPHA:2131
HP:0020049	Exodeviation	477	ATP1A2	ORPHA:2131
HP:0020049	Exodeviation	90624	LYRM7	OMIM:615838
HP:0020049	Exodeviation	1282	COL4A1	OMIM:175780
HP:0020049	Exodeviation	80036	TRPM3	OMIM:620224
HP:0020049	Exodeviation	6134	RPL10	ORPHA:459070
HP:0020049	Exodeviation	7337	UBE3A	OMIM:105830
HP:0020049	Exodeviation	6638	SNRPN	OMIM:105830
HP:0020049	Exodeviation	1859	DYRK1A	ORPHA:464311
HP:0020049	Exodeviation	283209	PGM2L1	OMIM:620191
HP:0020049	Exodeviation	54880	BCOR	OMIM:300166
HP:0020049	Exodeviation	26503	SLC17A5	OMIM:604369
HP:0020049	Exodeviation	8567	MADD	OMIM:619005
HP:0020049	Exodeviation	388552	BLOC1S3	OMIM:614077
HP:0020049	Exodeviation	56098	PCDHGC4	OMIM:619880
HP:0020049	Exodeviation	4617	MYF5	OMIM:618155
HP:0020049	Exodeviation	2255	FGF10	ORPHA:2363
HP:0020049	Exodeviation	55717	WDR11	OMIM:620237
HP:0020049	Exodeviation	57096	RPGRIP1	OMIM:613826
HP:0020049	Exodeviation	29920	PYCR2	OMIM:616420
HP:0020049	Exodeviation	6651	SON	ORPHA:500150
HP:0020049	Exodeviation	546	ATRX	OMIM:309580
HP:0020049	Exodeviation	57479	PRR12	OMIM:619539
HP:0020049	Exodeviation	11152	WDR45	OMIM:615179
HP:0020049	Exodeviation	83938	LRMDA	OMIM:615179
HP:0020049	Exodeviation	4088	SMAD3	OMIM:613795
HP:0020049	Exodeviation	4157	MC1R	OMIM:203200
HP:0020049	Exodeviation	4948	OCA2	OMIM:203200
HP:0020049	Exodeviation	7048	TGFBR2	OMIM:610168
HP:0020049	Exodeviation	875	CBS	OMIM:236200
HP:0020049	Exodeviation	64802	NMNAT1	OMIM:619260
HP:0020049	Exodeviation	3030	HADHA	ORPHA:5
HP:0020049	Exodeviation	120	ADD3	OMIM:617008
HP:0020049	Exodeviation	7046	TGFBR1	OMIM:609192
HP:0020049	Exodeviation	11338	U2AF2	OMIM:620535
HP:0020049	Exodeviation	140679	SLC32A1	OMIM:620774
HP:0020049	Exodeviation	78987	CRELD1	OMIM:620771
HP:0020049	Exodeviation	9898	UBAP2L	OMIM:620494
HP:0020049	Exodeviation	5080	PAX6	OMIM:106210
HP:0020049	Exodeviation	7490	WT1	OMIM:106210
HP:0020049	Exodeviation	91574	MTRFR	ORPHA:254930
HP:0020049	Exodeviation	84842	HPDL	OMIM:619026
HP:0020049	Exodeviation	51116	MRPS2	OMIM:617950
HP:0020049	Exodeviation	23327	NEDD4L	OMIM:617201
HP:0020049	Exodeviation	166378	AFG2A	ORPHA:457351
HP:0020049	Exodeviation	11020	IFT27	OMIM:615996
HP:0020049	Exodeviation	478	ATP1A3	OMIM:619606
HP:0020049	Exodeviation	29926	GMPPA	OMIM:615510
HP:0020049	Exodeviation	23400	ATP13A2	OMIM:617225
HP:0020049	Exodeviation	2263	FGFR2	OMIM:123790
HP:0020049	Exodeviation	2890	GRIA1	OMIM:619931
HP:0020049	Exodeviation	3708	ITPR1	OMIM:117360
HP:0020049	Exodeviation	3166	HMX1	OMIM:612109
HP:0020049	Exodeviation	1009	CDH11	OMIM:211380
HP:0020049	Exodeviation	2703	GJA8	OMIM:612474
HP:0020049	Exodeviation	2702	GJA5	OMIM:612474
HP:0020049	Exodeviation	27125	AFF4	ORPHA:444077
HP:0020049	Exodeviation	57531	HACE1	ORPHA:464282
HP:0020049	Exodeviation	60684	TRAPPC11	ORPHA:369840
HP:0020049	Exodeviation	6050	RNH1	OMIM:620461
HP:0020049	Exodeviation	23291	FBXW11	OMIM:618914
HP:0020049	Exodeviation	8367	H4C5	OMIM:619950
HP:0020049	Exodeviation	2590	GALNT2	OMIM:618885
HP:0020049	Exodeviation	224	ALDH3A2	OMIM:270200
HP:0020049	Exodeviation	4841	NONO	ORPHA:466791
HP:0002470	Nonprogressive cerebellar ataxia	22	ABCB7	OMIM:301310
HP:0002470	Nonprogressive cerebellar ataxia	133686	NADK2	ORPHA:431361
HP:0002470	Nonprogressive cerebellar ataxia	131118	DNAJC19	OMIM:610198
HP:0002470	Nonprogressive cerebellar ataxia	3708	ITPR1	OMIM:117360
HP:0002470	Nonprogressive cerebellar ataxia	492	ATP2B3	ORPHA:314978
HP:0002470	Nonprogressive cerebellar ataxia	5457	POU4F1	ORPHA:314647
HP:0002470	Nonprogressive cerebellar ataxia	23261	CAMTA1	ORPHA:314647
HP:0002470	Nonprogressive cerebellar ataxia	85300	ATCAY	ORPHA:94122
HP:0002470	Nonprogressive cerebellar ataxia	55691	FRMD4A	ORPHA:466688
HP:0002470	Nonprogressive cerebellar ataxia	55280	CWF19L1	ORPHA:453521
HP:0002376	Developmental regression	9131	AIFM1	ORPHA:238329
HP:0002376	Developmental regression	9131	AIFM1	OMIM:300232
HP:0002376	Developmental regression	9131	AIFM1	OMIM:300816
HP:0002376	Developmental regression	5138	PDE2A	OMIM:619150
HP:0002376	Developmental regression	23394	ADNP	ORPHA:404448
HP:0002376	Developmental regression	26960	NBEA	OMIM:619157
HP:0002376	Developmental regression	91574	MTRFR	ORPHA:254930
HP:0002376	Developmental regression	91574	MTRFR	OMIM:613559
HP:0002376	Developmental regression	4574	MT-TS1	OMIM:220110
HP:0002376	Developmental regression	4570	MT-TN	OMIM:220110
HP:0002376	Developmental regression	6834	SURF1	OMIM:220110
HP:0002376	Developmental regression	343450	KCNT2	OMIM:617771
HP:0002376	Developmental regression	27247	NFU1	OMIM:620938
HP:0002376	Developmental regression	27247	NFU1	OMIM:605711
HP:0002376	Developmental regression	10973	ASCC3	OMIM:620700
HP:0002376	Developmental regression	7360	UGP2	OMIM:618744
HP:0002376	Developmental regression	84334	COA8	ORPHA:436271
HP:0002376	Developmental regression	84334	COA8	OMIM:619061
HP:0002376	Developmental regression	6326	SCN2A	ORPHA:293181
HP:0002376	Developmental regression	6326	SCN2A	ORPHA:36387
HP:0002376	Developmental regression	6326	SCN2A	ORPHA:3451
HP:0002376	Developmental regression	6326	SCN2A	ORPHA:1934
HP:0002376	Developmental regression	6326	SCN2A	ORPHA:33069
HP:0002376	Developmental regression	57468	SLC12A5	ORPHA:293181
HP:0002376	Developmental regression	57468	SLC12A5	OMIM:616645
HP:0002376	Developmental regression	23236	PLCB1	ORPHA:293181
HP:0002376	Developmental regression	23236	PLCB1	ORPHA:3451
HP:0002376	Developmental regression	23236	PLCB1	OMIM:613722
HP:0002376	Developmental regression	3785	KCNQ2	ORPHA:293181
HP:0002376	Developmental regression	57582	KCNT1	ORPHA:293181
HP:0002376	Developmental regression	57582	KCNT1	OMIM:614959
HP:0002376	Developmental regression	5277	PIGA	ORPHA:293181
HP:0002376	Developmental regression	5277	PIGA	ORPHA:3451
HP:0002376	Developmental regression	5277	PIGA	OMIM:301072
HP:0002376	Developmental regression	5277	PIGA	OMIM:300868
HP:0002376	Developmental regression	6323	SCN1A	ORPHA:293181
HP:0002376	Developmental regression	6323	SCN1A	ORPHA:2382
HP:0002376	Developmental regression	6323	SCN1A	ORPHA:442835
HP:0002376	Developmental regression	6323	SCN1A	ORPHA:36387
HP:0002376	Developmental regression	6323	SCN1A	OMIM:607208
HP:0002376	Developmental regression	6323	SCN1A	ORPHA:33069
HP:0002376	Developmental regression	79751	SLC25A22	ORPHA:293181
HP:0002376	Developmental regression	79751	SLC25A22	ORPHA:1934
HP:0002376	Developmental regression	57465	TBC1D24	ORPHA:293181
HP:0002376	Developmental regression	57465	TBC1D24	ORPHA:352596
HP:0002376	Developmental regression	57465	TBC1D24	OMIM:615338
HP:0002376	Developmental regression	1788	DNMT3A	ORPHA:404443
HP:0002376	Developmental regression	51816	ADA2	ORPHA:820
HP:0002376	Developmental regression	51	ACOX1	ORPHA:2971
HP:0002376	Developmental regression	51	ACOX1	OMIM:264470
HP:0002376	Developmental regression	154881	KCTD7	ORPHA:263516
HP:0002376	Developmental regression	154881	KCTD7	OMIM:611726
HP:0002376	Developmental regression	4072	EPCAM	ORPHA:144
HP:0002376	Developmental regression	4292	MLH1	ORPHA:144
HP:0002376	Developmental regression	5395	PMS2	ORPHA:144
HP:0002376	Developmental regression	7048	TGFBR2	ORPHA:144
HP:0002376	Developmental regression	3845	KRAS	ORPHA:144
HP:0002376	Developmental regression	5290	PIK3CA	ORPHA:144
HP:0002376	Developmental regression	2956	MSH6	ORPHA:144
HP:0002376	Developmental regression	5378	PMS1	ORPHA:144
HP:0002376	Developmental regression	4436	MSH2	ORPHA:144
HP:0002376	Developmental regression	5660	PSAP	OMIM:249900
HP:0002376	Developmental regression	5660	PSAP	ORPHA:309271
HP:0002376	Developmental regression	5660	PSAP	ORPHA:309263
HP:0002376	Developmental regression	5660	PSAP	OMIM:610539
HP:0002376	Developmental regression	5660	PSAP	ORPHA:309256
HP:0002376	Developmental regression	4535	MT-ND1	ORPHA:255210
HP:0002376	Developmental regression	4536	MT-ND2	ORPHA:255210
HP:0002376	Developmental regression	4537	MT-ND3	ORPHA:255210
HP:0002376	Developmental regression	4538	MT-ND4	ORPHA:255210
HP:0002376	Developmental regression	4567	MT-TL1	ORPHA:255210
HP:0002376	Developmental regression	4578	MT-TW	ORPHA:255210
HP:0002376	Developmental regression	4577	MT-TV	ORPHA:255210
HP:0002376	Developmental regression	4508	MT-ATP6	ORPHA:255210
HP:0002376	Developmental regression	4508	MT-ATP6	ORPHA:225154
HP:0002376	Developmental regression	4540	MT-ND5	ORPHA:255210
HP:0002376	Developmental regression	4541	MT-ND6	ORPHA:255210
HP:0002376	Developmental regression	4566	MT-TK	ORPHA:255210
HP:0002376	Developmental regression	51218	GLRX5	ORPHA:401866
HP:0002376	Developmental regression	51112	TRAPPC12	ORPHA:500144
HP:0002376	Developmental regression	51112	TRAPPC12	OMIM:617669
HP:0002376	Developmental regression	3020	H3-3A	OMIM:619720
HP:0002376	Developmental regression	65993	MRPS34	OMIM:617664
HP:0002376	Developmental regression	9442	MED27	OMIM:619286
HP:0002376	Developmental regression	644096	SDHAF1	OMIM:619166
HP:0002376	Developmental regression	644096	SDHAF1	ORPHA:3208
HP:0002376	Developmental regression	56997	COQ8A	ORPHA:139485
HP:0002376	Developmental regression	6392	SDHD	OMIM:619167
HP:0002376	Developmental regression	6392	SDHD	ORPHA:3208
HP:0002376	Developmental regression	2348	FOLR1	OMIM:613068
HP:0002376	Developmental regression	2782	GNB1	ORPHA:488613
HP:0002376	Developmental regression	2782	GNB1	OMIM:616973
HP:0002376	Developmental regression	64218	SEMA4A	ORPHA:440437
HP:0002376	Developmental regression	472	ATM	ORPHA:440437
HP:0002376	Developmental regression	5426	POLE	ORPHA:440437
HP:0002376	Developmental regression	675	BRCA2	ORPHA:440437
HP:0002376	Developmental regression	657	BMPR1A	ORPHA:440437
HP:0002376	Developmental regression	6224	RPS20	ORPHA:440437
HP:0002376	Developmental regression	4595	MUTYH	ORPHA:440437
HP:0002376	Developmental regression	5424	POLD1	ORPHA:440437
HP:0002376	Developmental regression	11200	CHEK2	ORPHA:440437
HP:0002376	Developmental regression	1841	DTYMK	OMIM:619847
HP:0002376	Developmental regression	790	CAD	OMIM:616457
HP:0002376	Developmental regression	1106	CHD2	OMIM:615369
HP:0002376	Developmental regression	1106	CHD2	ORPHA:2382
HP:0002376	Developmental regression	2670	GFAP	OMIM:203450
HP:0002376	Developmental regression	10501	SEMA6B	OMIM:618876
HP:0002376	Developmental regression	128486	FITM2	OMIM:618635
HP:0002376	Developmental regression	26580	BSCL2	OMIM:615924
HP:0002376	Developmental regression	55768	NGLY1	ORPHA:404454
HP:0002376	Developmental regression	23474	ETHE1	ORPHA:51188
HP:0002376	Developmental regression	23474	ETHE1	OMIM:602473
HP:0002376	Developmental regression	410	ARSA	ORPHA:309271
HP:0002376	Developmental regression	410	ARSA	ORPHA:309263
HP:0002376	Developmental regression	410	ARSA	ORPHA:309256
HP:0002376	Developmental regression	8029	CUBN	ORPHA:35858
HP:0002376	Developmental regression	81693	AMN	ORPHA:35858
HP:0002376	Developmental regression	3735	KARS1	ORPHA:3240
HP:0002376	Developmental regression	3735	KARS1	OMIM:619147
HP:0002376	Developmental regression	4718	NDUFC2	OMIM:619170
HP:0002376	Developmental regression	51360	MBTPS2	ORPHA:2273
HP:0002376	Developmental regression	3074	HEXB	ORPHA:309155
HP:0002376	Developmental regression	3074	HEXB	OMIM:268800
HP:0002376	Developmental regression	23250	ATP11A	OMIM:619851
HP:0002376	Developmental regression	103	ADAR	OMIM:615010
HP:0002376	Developmental regression	103	ADAR	ORPHA:51
HP:0002376	Developmental regression	103	ADAR	ORPHA:225154
HP:0002376	Developmental regression	64207	IRF2BPL	OMIM:618088
HP:0002376	Developmental regression	25885	POLR1A	OMIM:616462
HP:0002376	Developmental regression	25885	POLR1A	OMIM:620675
HP:0002376	Developmental regression	7343	UBTF	OMIM:617672
HP:0002376	Developmental regression	7343	UBTF	ORPHA:500180
HP:0002376	Developmental regression	55037	PTCD3	OMIM:619057
HP:0002376	Developmental regression	80204	FBXO11	OMIM:618089
HP:0002376	Developmental regression	5119	CHMP1A	OMIM:614961
HP:0002376	Developmental regression	816	CAMK2B	OMIM:617799
HP:0002376	Developmental regression	10352	WARS2	OMIM:619738
HP:0002376	Developmental regression	1759	DNM1	OMIM:616346
HP:0002376	Developmental regression	1759	DNM1	ORPHA:2382
HP:0002376	Developmental regression	1759	DNM1	ORPHA:442835
HP:0002376	Developmental regression	3064	HTT	OMIM:617435
HP:0002376	Developmental regression	3423	IDS	ORPHA:217085
HP:0002376	Developmental regression	3423	IDS	ORPHA:217093
HP:0002376	Developmental regression	93627	TBCK	OMIM:616900
HP:0002376	Developmental regression	93627	TBCK	ORPHA:488632
HP:0002376	Developmental regression	23732	FRRS1L	ORPHA:725
HP:0002376	Developmental regression	23732	FRRS1L	OMIM:616981
HP:0002376	Developmental regression	2903	GRIN2A	ORPHA:725
HP:0002376	Developmental regression	2903	GRIN2A	ORPHA:98818
HP:0002376	Developmental regression	2903	GRIN2A	OMIM:245570
HP:0002376	Developmental regression	8398	PLA2G6	ORPHA:35069
HP:0002376	Developmental regression	8398	PLA2G6	OMIM:256600
HP:0002376	Developmental regression	5428	POLG	ORPHA:726
HP:0002376	Developmental regression	5428	POLG	OMIM:203700
HP:0002376	Developmental regression	54675	CRLS1	OMIM:620167
HP:0002376	Developmental regression	100303755	PET117	OMIM:619063
HP:0002376	Developmental regression	7274	TTPA	ORPHA:96
HP:0002376	Developmental regression	23096	IQSEC2	ORPHA:397933
HP:0002376	Developmental regression	23096	IQSEC2	OMIM:309530
HP:0002376	Developmental regression	80856	LNPK	OMIM:618090
HP:0002376	Developmental regression	1327	COX4I1	OMIM:619060
HP:0002376	Developmental regression	84504	NKX6-2	OMIM:617560
HP:0002376	Developmental regression	2562	GABRB3	ORPHA:2382
HP:0002376	Developmental regression	5602	MAPK10	ORPHA:2382
HP:0002376	Developmental regression	773	CACNA1A	ORPHA:2382
HP:0002376	Developmental regression	773	CACNA1A	ORPHA:442835
HP:0002376	Developmental regression	23316	CUX2	ORPHA:2382
HP:0002376	Developmental regression	23316	CUX2	OMIM:618141
HP:0002376	Developmental regression	5833	PCYT2	OMIM:618770
HP:0002376	Developmental regression	388962	BOLA3	OMIM:614299
HP:0002376	Developmental regression	79813	EHMT1	OMIM:610253
HP:0002376	Developmental regression	84342	COG8	ORPHA:95428
HP:0002376	Developmental regression	84342	COG8	OMIM:611182
HP:0002376	Developmental regression	79731	NARS2	OMIM:616239
HP:0002376	Developmental regression	3737	KCNA2	ORPHA:442835
HP:0002376	Developmental regression	8120	AP3B2	ORPHA:442835
HP:0002376	Developmental regression	523	ATP6V1A	ORPHA:442835
HP:0002376	Developmental regression	10991	SLC38A3	ORPHA:442835
HP:0002376	Developmental regression	51343	FZR1	ORPHA:442835
HP:0002376	Developmental regression	3747	KCNC2	ORPHA:442835
HP:0002376	Developmental regression	1917	EEF1A2	ORPHA:442835
HP:0002376	Developmental regression	23219	FBXO28	ORPHA:442835
HP:0002376	Developmental regression	23219	FBXO28	OMIM:619777
HP:0002376	Developmental regression	2561	GABRB2	ORPHA:442835
HP:0002376	Developmental regression	8831	SYNGAP1	ORPHA:442835
HP:0002376	Developmental regression	8831	SYNGAP1	ORPHA:544254
HP:0002376	Developmental regression	8831	SYNGAP1	OMIM:612621
HP:0002376	Developmental regression	2558	GABRA5	ORPHA:442835
HP:0002376	Developmental regression	2906	GRIN2D	ORPHA:442835
HP:0002376	Developmental regression	116150	NUS1	ORPHA:442835
HP:0002376	Developmental regression	1213	CLTC	ORPHA:442835
HP:0002376	Developmental regression	51741	WWOX	ORPHA:442835
HP:0002376	Developmental regression	23334	SZT2	ORPHA:442835
HP:0002376	Developmental regression	348980	HCN1	ORPHA:442835
HP:0002376	Developmental regression	348980	HCN1	ORPHA:36387
HP:0002376	Developmental regression	25977	NECAP1	ORPHA:442835
HP:0002376	Developmental regression	23241	PACS2	ORPHA:442835
HP:0002376	Developmental regression	16	AARS1	ORPHA:442835
HP:0002376	Developmental regression	6334	SCN8A	ORPHA:442835
HP:0002376	Developmental regression	6334	SCN8A	OMIM:614558
HP:0002376	Developmental regression	9568	GABBR2	ORPHA:442835
HP:0002376	Developmental regression	9568	GABBR2	OMIM:617903
HP:0002376	Developmental regression	9568	GABBR2	ORPHA:3095
HP:0002376	Developmental regression	2555	GABRA2	ORPHA:442835
HP:0002376	Developmental regression	55152	DALRD3	ORPHA:442835
HP:0002376	Developmental regression	26999	CYFIP2	ORPHA:442835
HP:0002376	Developmental regression	4915	NTRK2	ORPHA:442835
HP:0002376	Developmental regression	4915	NTRK2	ORPHA:3451
HP:0002376	Developmental regression	25973	PARS2	ORPHA:442835
HP:0002376	Developmental regression	23097	CDK19	ORPHA:442835
HP:0002376	Developmental regression	2257	FGF12	ORPHA:442835
HP:0002376	Developmental regression	2257	FGF12	OMIM:617166
HP:0002376	Developmental regression	5530	PPP3CA	ORPHA:442835
HP:0002376	Developmental regression	5530	PPP3CA	OMIM:617711
HP:0002376	Developmental regression	478	ATP1A3	ORPHA:442835
HP:0002376	Developmental regression	22906	TRAK1	ORPHA:442835
HP:0002376	Developmental regression	22906	TRAK1	OMIM:618201
HP:0002376	Developmental regression	2566	GABRG2	ORPHA:442835
HP:0002376	Developmental regression	2566	GABRG2	ORPHA:36387
HP:0002376	Developmental regression	2566	GABRG2	ORPHA:33069
HP:0002376	Developmental regression	7532	YWHAG	ORPHA:442835
HP:0002376	Developmental regression	79876	UBA5	ORPHA:442835
HP:0002376	Developmental regression	6328	SCN3A	ORPHA:442835
HP:0002376	Developmental regression	781	CACNA2D1	ORPHA:442835
HP:0002376	Developmental regression	10659	CELF2	ORPHA:442835
HP:0002376	Developmental regression	774	CACNA1B	ORPHA:442835
HP:0002376	Developmental regression	774	CACNA1B	OMIM:618497
HP:0002376	Developmental regression	51412	ACTL6B	ORPHA:442835
HP:0002376	Developmental regression	2290	FOXG1	ORPHA:442835
HP:0002376	Developmental regression	2290	FOXG1	OMIM:613454
HP:0002376	Developmental regression	2290	FOXG1	ORPHA:261144
HP:0002376	Developmental regression	6506	SLC1A2	ORPHA:442835
HP:0002376	Developmental regression	6506	SLC1A2	OMIM:617105
HP:0002376	Developmental regression	8867	SYNJ1	ORPHA:442835
HP:0002376	Developmental regression	477	ATP1A2	ORPHA:442835
HP:0002376	Developmental regression	477	ATP1A2	OMIM:104290
HP:0002376	Developmental regression	3745	KCNB1	ORPHA:442835
HP:0002376	Developmental regression	284111	SLC13A5	ORPHA:442835
HP:0002376	Developmental regression	284111	SLC13A5	ORPHA:1946
HP:0002376	Developmental regression	22866	CNKSR2	ORPHA:442835
HP:0002376	Developmental regression	79947	DHDDS	ORPHA:442835
HP:0002376	Developmental regression	284439	SLC25A42	OMIM:618416
HP:0002376	Developmental regression	25942	SIN3A	OMIM:613406
HP:0002376	Developmental regression	10382	TUBB4A	OMIM:612438
HP:0002376	Developmental regression	84947	SERAC1	OMIM:614739
HP:0002376	Developmental regression	10522	DEAF1	OMIM:615828
HP:0002376	Developmental regression	10522	DEAF1	ORPHA:468620
HP:0002376	Developmental regression	26834	RNU4-2	OMIM:620851
HP:0002376	Developmental regression	6335	SCN9A	ORPHA:36387
HP:0002376	Developmental regression	6335	SCN9A	ORPHA:33069
HP:0002376	Developmental regression	112755	STX1B	ORPHA:36387
HP:0002376	Developmental regression	2563	GABRD	ORPHA:36387
HP:0002376	Developmental regression	112476	PRRT2	ORPHA:36387
HP:0002376	Developmental regression	6324	SCN1B	ORPHA:36387
HP:0002376	Developmental regression	6324	SCN1B	ORPHA:1934
HP:0002376	Developmental regression	6324	SCN1B	ORPHA:33069
HP:0002376	Developmental regression	2258	FGF13	ORPHA:36387
HP:0002376	Developmental regression	2258	FGF13	OMIM:301058
HP:0002376	Developmental regression	84059	ADGRV1	ORPHA:36387
HP:0002376	Developmental regression	1499	CTNNB1	ORPHA:404473
HP:0002376	Developmental regression	443	ASPA	OMIM:271900
HP:0002376	Developmental regression	6792	CDKL5	OMIM:300672
HP:0002376	Developmental regression	6792	CDKL5	ORPHA:3451
HP:0002376	Developmental regression	6792	CDKL5	ORPHA:1934
HP:0002376	Developmental regression	6792	CDKL5	ORPHA:3095
HP:0002376	Developmental regression	1267	CNP	OMIM:619071
HP:0002376	Developmental regression	8879	SGPL1	OMIM:617575
HP:0002376	Developmental regression	51604	PIGT	OMIM:615398
HP:0002376	Developmental regression	57680	CHD8	OMIM:615032
HP:0002376	Developmental regression	3028	HSD17B10	OMIM:300438
HP:0002376	Developmental regression	3028	HSD17B10	ORPHA:391428
HP:0002376	Developmental regression	57282	SLC4A10	OMIM:620746
HP:0002376	Developmental regression	6804	STX1A	ORPHA:904
HP:0002376	Developmental regression	7461	CLIP2	ORPHA:904
HP:0002376	Developmental regression	84277	DNAJC30	ORPHA:904
HP:0002376	Developmental regression	8468	FKBP6	ORPHA:904
HP:0002376	Developmental regression	5982	RFC2	ORPHA:904
HP:0002376	Developmental regression	2969	GTF2I	ORPHA:904
HP:0002376	Developmental regression	3984	LIMK1	ORPHA:904
HP:0002376	Developmental regression	9569	GTF2IRD1	ORPHA:904
HP:0002376	Developmental regression	155382	VPS37D	ORPHA:904
HP:0002376	Developmental regression	155368	METTL27	ORPHA:904
HP:0002376	Developmental regression	114049	BUD23	ORPHA:904
HP:0002376	Developmental regression	7458	EIF4H	ORPHA:904
HP:0002376	Developmental regression	84163	GTF2IRD2	ORPHA:904
HP:0002376	Developmental regression	26608	TBL2	ORPHA:904
HP:0002376	Developmental regression	653361	NCF1	ORPHA:904
HP:0002376	Developmental regression	135886	TMEM270	ORPHA:904
HP:0002376	Developmental regression	9031	BAZ1B	ORPHA:904
HP:0002376	Developmental regression	2006	ELN	ORPHA:904
HP:0002376	Developmental regression	8021	NUP214	OMIM:618426
HP:0002376	Developmental regression	90624	LYRM7	OMIM:615838
HP:0002376	Developmental regression	493856	CISD2	ORPHA:3463
HP:0002376	Developmental regression	7466	WFS1	ORPHA:3463
HP:0002376	Developmental regression	80704	SLC19A3	OMIM:607483
HP:0002376	Developmental regression	6609	SMPD1	OMIM:257200
HP:0002376	Developmental regression	84992	PIGY	OMIM:616809
HP:0002376	Developmental regression	11128	POLR3A	ORPHA:447896
HP:0002376	Developmental regression	11128	POLR3A	OMIM:607694
HP:0002376	Developmental regression	285362	SUMF1	ORPHA:585
HP:0002376	Developmental regression	122961	ISCA2	OMIM:616370
HP:0002376	Developmental regression	2232	FDXR	ORPHA:543470
HP:0002376	Developmental regression	50485	SMARCAL1	ORPHA:1830
HP:0002376	Developmental regression	56947	MFF	ORPHA:485421
HP:0002376	Developmental regression	56947	MFF	OMIM:617086
HP:0002376	Developmental regression	64135	IFIH1	OMIM:615846
HP:0002376	Developmental regression	64135	IFIH1	ORPHA:51
HP:0002376	Developmental regression	3708	ITPR1	OMIM:117360
HP:0002376	Developmental regression	10472	ZBTB18	OMIM:612337
HP:0002376	Developmental regression	79971	WLS	OMIM:619648
HP:0002376	Developmental regression	221692	PHACTR1	ORPHA:3451
HP:0002376	Developmental regression	6487	ST3GAL3	ORPHA:3451
HP:0002376	Developmental regression	10695	CNPY3	ORPHA:3451
HP:0002376	Developmental regression	150094	SIK1	ORPHA:3451
HP:0002376	Developmental regression	150094	SIK1	ORPHA:1934
HP:0002376	Developmental regression	6709	SPTAN1	ORPHA:3451
HP:0002376	Developmental regression	60558	GUF1	ORPHA:3451
HP:0002376	Developmental regression	170302	ARX	ORPHA:3451
HP:0002376	Developmental regression	170302	ARX	ORPHA:1934
HP:0002376	Developmental regression	11152	WDR45	ORPHA:3451
HP:0002376	Developmental regression	2904	GRIN2B	ORPHA:3451
HP:0002376	Developmental regression	3662	IRF4	ORPHA:3452
HP:0002376	Developmental regression	9338	TCEAL1	OMIM:301094
HP:0002376	Developmental regression	5354	PLP1	ORPHA:280229
HP:0002376	Developmental regression	10667	FARS2	ORPHA:466722
HP:0002376	Developmental regression	55670	PEX26	ORPHA:44
HP:0002376	Developmental regression	5824	PEX19	ORPHA:44
HP:0002376	Developmental regression	5828	PEX2	ORPHA:44
HP:0002376	Developmental regression	8504	PEX3	ORPHA:44
HP:0002376	Developmental regression	9409	PEX16	ORPHA:44
HP:0002376	Developmental regression	5190	PEX6	ORPHA:44
HP:0002376	Developmental regression	8799	PEX11B	ORPHA:44
HP:0002376	Developmental regression	5830	PEX5	ORPHA:44
HP:0002376	Developmental regression	5189	PEX1	ORPHA:44
HP:0002376	Developmental regression	5193	PEX12	ORPHA:44
HP:0002376	Developmental regression	5194	PEX13	ORPHA:44
HP:0002376	Developmental regression	5195	PEX14	ORPHA:44
HP:0002376	Developmental regression	5192	PEX10	ORPHA:44
HP:0002376	Developmental regression	7030	TFE3	OMIM:301066
HP:0002376	Developmental regression	55739	NAXD	OMIM:618321
HP:0002376	Developmental regression	10463	SLC30A9	OMIM:617595
HP:0002376	Developmental regression	84833	ATP5MK	OMIM:618683
HP:0002376	Developmental regression	6389	SDHA	ORPHA:3208
HP:0002376	Developmental regression	6389	SDHA	OMIM:252011
HP:0002376	Developmental regression	6390	SDHB	ORPHA:3208
HP:0002376	Developmental regression	6390	SDHB	OMIM:619224
HP:0002376	Developmental regression	54148	MRPL39	OMIM:620646
HP:0002376	Developmental regression	79641	ROGDI	ORPHA:1946
HP:0002376	Developmental regression	79641	ROGDI	OMIM:226750
HP:0002376	Developmental regression	3954	LETM1	OMIM:620089
HP:0002376	Developmental regression	5048	PAFAH1B1	ORPHA:95232
HP:0002376	Developmental regression	1967	EIF2B1	OMIM:603896
HP:0002376	Developmental regression	23636	NUP62	OMIM:271930
HP:0002376	Developmental regression	23636	NUP62	ORPHA:225154
HP:0002376	Developmental regression	2055	CLN8	OMIM:600143
HP:0002376	Developmental regression	6812	STXBP1	ORPHA:599373
HP:0002376	Developmental regression	6812	STXBP1	OMIM:612164
HP:0002376	Developmental regression	81570	CLPB	OMIM:616271
HP:0002376	Developmental regression	81570	CLPB	ORPHA:445038
HP:0002376	Developmental regression	51693	TRAPPC2L	OMIM:618331
HP:0002376	Developmental regression	84188	FAR1	OMIM:616154
HP:0002376	Developmental regression	2581	GALC	OMIM:245200
HP:0002376	Developmental regression	2581	GALC	ORPHA:206443
HP:0002376	Developmental regression	27133	KCNH5	OMIM:620537
HP:0002376	Developmental regression	4204	MECP2	OMIM:312750
HP:0002376	Developmental regression	4204	MECP2	ORPHA:3095
HP:0002376	Developmental regression	4204	MECP2	ORPHA:778
HP:0002376	Developmental regression	4204	MECP2	OMIM:300260
HP:0002376	Developmental regression	835	CASP2	OMIM:620653
HP:0002376	Developmental regression	140679	SLC32A1	OMIM:620774
HP:0002376	Developmental regression	140679	SLC32A1	ORPHA:1934
HP:0002376	Developmental regression	10535	RNASEH2A	ORPHA:51
HP:0002376	Developmental regression	84153	RNASEH2C	ORPHA:51
HP:0002376	Developmental regression	25939	SAMHD1	ORPHA:51
HP:0002376	Developmental regression	79621	RNASEH2B	ORPHA:51
HP:0002376	Developmental regression	11277	TREX1	ORPHA:51
HP:0002376	Developmental regression	100147744	RNU7-1	ORPHA:51
HP:0002376	Developmental regression	134353	LSM11	ORPHA:51
HP:0002376	Developmental regression	3736	KCNA1	ORPHA:1934
HP:0002376	Developmental regression	9091	PIGQ	ORPHA:1934
HP:0002376	Developmental regression	2775	GNAO1	ORPHA:1934
HP:0002376	Developmental regression	81603	TRIM8	ORPHA:1934
HP:0002376	Developmental regression	2902	GRIN1	ORPHA:1934
HP:0002376	Developmental regression	2902	GRIN1	ORPHA:208447
HP:0002376	Developmental regression	8573	CASK	ORPHA:1934
HP:0002376	Developmental regression	23312	DMXL2	ORPHA:1934
HP:0002376	Developmental regression	2917	GRM7	ORPHA:1934
HP:0002376	Developmental regression	11284	PNKP	ORPHA:1934
HP:0002376	Developmental regression	51227	PIGP	ORPHA:1934
HP:0002376	Developmental regression	4761	NEUROD2	ORPHA:1934
HP:0002376	Developmental regression	9900	SV2A	OMIM:620772
HP:0002376	Developmental regression	2068	ERCC2	ORPHA:910
HP:0002376	Developmental regression	7507	XPA	ORPHA:910
HP:0002376	Developmental regression	2071	ERCC3	ORPHA:910
HP:0002376	Developmental regression	7508	XPC	ORPHA:910
HP:0002376	Developmental regression	1643	DDB2	ORPHA:910
HP:0002376	Developmental regression	2072	ERCC4	ORPHA:910
HP:0002376	Developmental regression	2073	ERCC5	ORPHA:910
HP:0002376	Developmental regression	55703	POLR3B	OMIM:607694
HP:0002376	Developmental regression	149233	IL23R	ORPHA:117
HP:0002376	Developmental regression	6775	STAT4	ORPHA:117
HP:0002376	Developmental regression	3586	IL10	ORPHA:117
HP:0002376	Developmental regression	4210	MEFV	ORPHA:117
HP:0002376	Developmental regression	1230	CCR1	ORPHA:117
HP:0002376	Developmental regression	355	FAS	ORPHA:117
HP:0002376	Developmental regression	3592	IL12A	ORPHA:117
HP:0002376	Developmental regression	101928376	IL12A-AS1	ORPHA:117
HP:0002376	Developmental regression	3106	HLA-B	ORPHA:117
HP:0002376	Developmental regression	7099	TLR4	ORPHA:117
HP:0002376	Developmental regression	3459	IFNGR1	ORPHA:117
HP:0002376	Developmental regression	720	C4A	ORPHA:117
HP:0002376	Developmental regression	337867	UBAC2	ORPHA:117
HP:0002376	Developmental regression	51752	ERAP1	ORPHA:117
HP:0002376	Developmental regression	8302	KLRC4	ORPHA:117
HP:0002376	Developmental regression	11160	ERLIN2	ORPHA:280384
HP:0002376	Developmental regression	2639	GCDH	ORPHA:25
HP:0002376	Developmental regression	2639	GCDH	OMIM:231670
HP:0002376	Developmental regression	55217	TMLHE	OMIM:300872
HP:0002376	Developmental regression	10059	DNM1L	ORPHA:330050
HP:0002376	Developmental regression	374291	NDUFS7	OMIM:618224
HP:0002376	Developmental regression	4723	NDUFV1	OMIM:618225
HP:0002376	Developmental regression	23516	SLC39A14	OMIM:617013
HP:0002376	Developmental regression	23516	SLC39A14	ORPHA:521406
HP:0002376	Developmental regression	4719	NDUFS1	OMIM:618226
HP:0002376	Developmental regression	4720	NDUFS2	OMIM:618228
HP:0002376	Developmental regression	4729	NDUFV2	OMIM:618229
HP:0002376	Developmental regression	11267	SNF8	OMIM:620783
HP:0002376	Developmental regression	959	CD40LG	OMIM:308230
HP:0002376	Developmental regression	26115	TANC2	OMIM:618906
HP:0002376	Developmental regression	22854	NTNG1	ORPHA:3095
HP:0002376	Developmental regression	8243	SMC1A	ORPHA:3095
HP:0002376	Developmental regression	57526	PCDH19	OMIM:300088
HP:0002376	Developmental regression	57526	PCDH19	ORPHA:33069
HP:0002376	Developmental regression	5515	PPP2CA	OMIM:618354
HP:0002376	Developmental regression	23102	TBC1D2B	OMIM:619323
HP:0002376	Developmental regression	64801	ARV1	OMIM:617020
HP:0002376	Developmental regression	4695	NDUFA2	OMIM:618235
HP:0002376	Developmental regression	79587	CARS2	ORPHA:477774
HP:0002376	Developmental regression	29998	BICRA	OMIM:619325
HP:0002376	Developmental regression	6651	SON	OMIM:617140
HP:0002376	Developmental regression	6651	SON	ORPHA:500150
HP:0002376	Developmental regression	51601	LIPT1	OMIM:616299
HP:0002376	Developmental regression	6905	TBCE	ORPHA:496756
HP:0002376	Developmental regression	80347	COASY	OMIM:615643
HP:0002376	Developmental regression	112939	NACC1	ORPHA:500545
HP:0002376	Developmental regression	57505	AARS2	OMIM:615889
HP:0002376	Developmental regression	137682	NDUFAF6	OMIM:618239
HP:0002376	Developmental regression	2720	GLB1	ORPHA:79255
HP:0002376	Developmental regression	79944	L2HGDH	OMIM:236792
HP:0002376	Developmental regression	8869	ST3GAL5	OMIM:609056
HP:0002376	Developmental regression	6904	TBCD	ORPHA:496641
HP:0002376	Developmental regression	6904	TBCD	OMIM:617193
HP:0002376	Developmental regression	427	ASAH1	ORPHA:333
HP:0002376	Developmental regression	3192	HNRNPU	OMIM:617391
HP:0002376	Developmental regression	7084	TK2	ORPHA:254875
HP:0002376	Developmental regression	2560	GABRB1	OMIM:617153
HP:0002376	Developmental regression	23221	RHOBTB2	OMIM:618004
HP:0002376	Developmental regression	9512	PMPCB	OMIM:617954
HP:0002376	Developmental regression	23229	ARHGEF9	ORPHA:163985
HP:0002376	Developmental regression	23229	ARHGEF9	OMIM:300607
HP:0002376	Developmental regression	4358	MPV17	OMIM:256810
HP:0002376	Developmental regression	2058	EPRS1	OMIM:617951
HP:0002376	Developmental regression	9378	NRXN1	OMIM:614325
HP:0002376	Developmental regression	29920	PYCR2	ORPHA:481152
HP:0002376	Developmental regression	819	CAMLG	OMIM:620201
HP:0002376	Developmental regression	259232	NALCN	OMIM:615419
HP:0002376	Developmental regression	2717	GLA	ORPHA:324
HP:0002376	Developmental regression	128989	TANGO2	ORPHA:480864
HP:0002376	Developmental regression	128989	TANGO2	OMIM:616878
HP:0002376	Developmental regression	538	ATP7A	ORPHA:565
HP:0002376	Developmental regression	538	ATP7A	OMIM:309400
HP:0002376	Developmental regression	191	AHCY	ORPHA:88618
HP:0002376	Developmental regression	5903	RANBP2	ORPHA:88619
HP:0002376	Developmental regression	3188	HNRNPH2	OMIM:300986
HP:0002376	Developmental regression	23152	CIC	OMIM:617600
HP:0002376	Developmental regression	175	AGA	OMIM:208400
HP:0002376	Developmental regression	6304	SATB1	OMIM:619228
HP:0002376	Developmental regression	6304	SATB1	OMIM:619229
HP:0002376	Developmental regression	57531	HACE1	OMIM:616756
HP:0002376	Developmental regression	27010	TPK1	OMIM:614458
HP:0002376	Developmental regression	4758	NEU1	ORPHA:93400
HP:0002376	Developmental regression	9997	SCO2	OMIM:604377
HP:0002376	Developmental regression	55697	VAC14	OMIM:617054
HP:0002376	Developmental regression	10526	IPO8	OMIM:619472
HP:0002376	Developmental regression	6711	SPTBN1	OMIM:619475
HP:0002376	Developmental regression	81689	ISCA1	OMIM:617613
HP:0002376	Developmental regression	2517	FUCA1	OMIM:230000
HP:0002376	Developmental regression	527	ATP6V0C	OMIM:620465
HP:0002376	Developmental regression	7305	TYROBP	ORPHA:2770
HP:0002376	Developmental regression	54209	TREM2	ORPHA:2770
HP:0002376	Developmental regression	29926	GMPPA	ORPHA:869
HP:0002376	Developmental regression	60684	TRAPPC11	ORPHA:869
HP:0002376	Developmental regression	8086	AAAS	ORPHA:869
HP:0002376	Developmental regression	2554	GABRA1	ORPHA:33069
HP:0002376	Developmental regression	8936	WASF1	OMIM:618707
HP:0002376	Developmental regression	10128	LRPPRC	ORPHA:70472
HP:0002376	Developmental regression	374879	ZNF699	OMIM:619488
HP:0002376	Developmental regression	128240	NAXE	OMIM:617186
HP:0002376	Developmental regression	2760	GM2A	ORPHA:309246
HP:0002376	Developmental regression	84340	GFM2	OMIM:618397
HP:0002376	Developmental regression	23287	AGTPBP1	OMIM:618276
HP:0002376	Developmental regression	1200	TPP1	OMIM:204500
HP:0002376	Developmental regression	7284	TUFM	OMIM:610678
HP:0002376	Developmental regression	2593	GAMT	OMIM:612736
HP:0002376	Developmental regression	84628	NTNG2	OMIM:618718
HP:0002376	Developmental regression	5264	PHYH	ORPHA:773
HP:0002376	Developmental regression	5191	PEX7	ORPHA:773
HP:0002376	Developmental regression	26137	ZBTB20	ORPHA:3042
HP:0002376	Developmental regression	53371	NUP54	ORPHA:225154
HP:0002376	Developmental regression	10479	SLC9A6	ORPHA:85278
HP:0002376	Developmental regression	777	CACNA1E	OMIM:618285
HP:0002376	Developmental regression	200205	IBA57	OMIM:615330
HP:0002376	Developmental regression	1203	CLN5	OMIM:256731
HP:0002376	Developmental regression	4724	NDUFS4	OMIM:252010
HP:0002376	Developmental regression	4668	NAGA	OMIM:609241
HP:0002376	Developmental regression	4668	NAGA	ORPHA:79279
HP:0002376	Developmental regression	131118	DNAJC19	ORPHA:66634
HP:0002376	Developmental regression	10312	TCIRG1	ORPHA:1782
HP:0002376	Developmental regression	55315	SLC29A3	ORPHA:1782
HP:0002376	Developmental regression	8792	TNFRSF11A	ORPHA:1782
HP:0002376	Developmental regression	25974	MMACHC	ORPHA:79282
HP:0002376	Developmental regression	10295	BCKDK	OMIM:614923
HP:0002376	Developmental regression	4693	NDP	ORPHA:649
HP:0002376	Developmental regression	124454	EARS2	OMIM:614924
HP:0002376	Developmental regression	54936	ADPRS	OMIM:618170
HP:0002376	Developmental regression	84842	HPDL	OMIM:619026
HP:0002376	Developmental regression	8665	EIF3F	OMIM:618295
HP:0002376	Developmental regression	55331	ACER3	OMIM:617762
HP:0002376	Developmental regression	341208	HEPHL1	OMIM:261990
HP:0002376	Developmental regression	267	AMFR	OMIM:620379
HP:0002376	Developmental regression	25886	POC1A	OMIM:614813
HP:0002376	Developmental regression	55294	FBXW7	OMIM:620012
HP:0002376	Developmental regression	26275	HIBCH	OMIM:250620
HP:0002376	Developmental regression	9898	UBAP2L	OMIM:620494
HP:0002376	Developmental regression	65055	REEP1	OMIM:620011
HP:0002376	Developmental regression	128	ADH5	OMIM:619151
HP:0002376	Developmental regression	51611	DPH5	OMIM:620070
HP:0002376	Developmental regression	84265	POLR3GL	OMIM:619234
HP:0002376	Developmental regression	79991	STN1	OMIM:617341
HP:0002376	Developmental regression	122553	TRAPPC6B	OMIM:617862
HP:0002376	Developmental regression	4700	NDUFA6	OMIM:618253
HP:0002376	Developmental regression	51728	POLR3K	OMIM:619310
HP:0002376	Developmental regression	6621	SNAPC4	OMIM:620515
HP:0002376	Developmental regression	1355	COX15	OMIM:615119
HP:0002376	Developmental regression	3295	HSD17B4	OMIM:261515
HP:0002376	Developmental regression	85465	SELENOI	OMIM:618768
HP:0002376	Developmental regression	54902	TTC19	OMIM:615157
HP:0002376	Developmental regression	4076	CAPRIN1	OMIM:620636
HP:0002472	Small cerebral cortex	55835	CPAP	OMIM:608393
HP:0002472	Small cerebral cortex	259266	ASPM	OMIM:608716
HP:0002472	Small cerebral cortex	9928	KIF14	OMIM:617914
HP:0002472	Small cerebral cortex	8621	CDK13	OMIM:617360
HP:0002472	Small cerebral cortex	55755	CDK5RAP2	OMIM:604804
HP:0002472	Small cerebral cortex	6925	TCF4	ORPHA:2896
HP:0002472	Small cerebral cortex	79648	MCPH1	OMIM:251200
HP:0002472	Small cerebral cortex	63925	ZNF335	ORPHA:329228
HP:0002474	Expressive language delay	79158	GNPTAB	ORPHA:576
HP:0002474	Expressive language delay	10735	STAG2	OMIM:301022
HP:0002474	Expressive language delay	64324	NSD1	OMIM:117550
HP:0002474	Expressive language delay	8565	YARS1	OMIM:619418
HP:0002474	Expressive language delay	10352	WARS2	OMIM:619738
HP:0002474	Expressive language delay	6389	SDHA	ORPHA:3208
HP:0002474	Expressive language delay	6390	SDHB	ORPHA:3208
HP:0002474	Expressive language delay	6392	SDHD	ORPHA:3208
HP:0002474	Expressive language delay	644096	SDHAF1	ORPHA:3208
HP:0002474	Expressive language delay	10381	TUBB3	ORPHA:300570
HP:0002474	Expressive language delay	93986	FOXP2	ORPHA:209908
HP:0002474	Expressive language delay	201163	FLCN	OMIM:610883
HP:0002474	Expressive language delay	9439	MED23	OMIM:614249
HP:0002474	Expressive language delay	6329	SCN4A	OMIM:620369
HP:0002474	Expressive language delay	6329	SCN4A	OMIM:620351
HP:0002474	Expressive language delay	10020	GNE	ORPHA:3166
HP:0002474	Expressive language delay	7138	TNNT1	OMIM:620389
HP:0002474	Expressive language delay	8085	KMT2D	OMIM:620186
HP:0002474	Expressive language delay	9839	ZEB2	ORPHA:261537
HP:0002474	Expressive language delay	9839	ZEB2	ORPHA:261552
HP:0002474	Expressive language delay	22827	PUF60	ORPHA:508488
HP:0002474	Expressive language delay	10847	SRCAP	OMIM:136140
HP:0002474	Expressive language delay	27086	FOXP1	ORPHA:391372
HP:0002474	Expressive language delay	6472	SHMT2	OMIM:619121
HP:0002474	Expressive language delay	28514	DLL1	ORPHA:280195
HP:0002474	Expressive language delay	2253	FGF8	ORPHA:280195
HP:0002474	Expressive language delay	6496	SIX3	ORPHA:280195
HP:0002474	Expressive language delay	7050	TGIF1	ORPHA:280195
HP:0002474	Expressive language delay	4838	NODAL	ORPHA:280195
HP:0002474	Expressive language delay	6469	SHH	ORPHA:280195
HP:0002474	Expressive language delay	7546	ZIC2	ORPHA:280195
HP:0002474	Expressive language delay	6491	STIL	ORPHA:280195
HP:0002474	Expressive language delay	2619	GAS1	ORPHA:280195
HP:0002474	Expressive language delay	84976	DISP1	ORPHA:280195
HP:0002474	Expressive language delay	2736	GLI2	ORPHA:280195
HP:0002474	Expressive language delay	8928	FOXH1	ORPHA:280195
HP:0002474	Expressive language delay	6997	CRIPTO	ORPHA:280195
HP:0002474	Expressive language delay	5727	PTCH1	ORPHA:280195
HP:0002474	Expressive language delay	50937	CDON	ORPHA:280195
HP:0002474	Expressive language delay	2782	GNB1	ORPHA:488613
HP:0002474	Expressive language delay	2782	GNB1	OMIM:616973
HP:0002474	Expressive language delay	27245	AHDC1	ORPHA:412069
HP:0002474	Expressive language delay	10730	YME1L1	OMIM:617302
HP:0002474	Expressive language delay	5910	RAP1GDS1	OMIM:620655
HP:0002474	Expressive language delay	55186	SLC25A36	OMIM:620211
HP:0002474	Expressive language delay	10743	RAI1	ORPHA:1713
HP:0002474	Expressive language delay	6874	TAF4	OMIM:620450
HP:0002474	Expressive language delay	166378	AFG2A	ORPHA:457351
HP:0002474	Expressive language delay	89970	RSPRY1	ORPHA:457395
HP:0002474	Expressive language delay	1806	DPYD	ORPHA:1675
HP:0002474	Expressive language delay	6872	TAF1	ORPHA:480907
HP:0002474	Expressive language delay	171023	ASXL1	ORPHA:97297
HP:0002474	Expressive language delay	79813	EHMT1	ORPHA:261652
HP:0002474	Expressive language delay	58508	KMT2C	ORPHA:261652
HP:0002474	Expressive language delay	8925	HERC1	ORPHA:457359
HP:0002474	Expressive language delay	25970	SH2B1	ORPHA:261197
HP:0002474	Expressive language delay	57492	ARID1B	OMIM:135900
HP:0002474	Expressive language delay	2892	GRIA3	ORPHA:364028
HP:0002474	Expressive language delay	23126	POGZ	ORPHA:468678
HP:0002475	Myelomeningocele	7547	ZIC3	OMIM:306955
HP:0002475	Myelomeningocele	64840	PORCN	OMIM:305600
HP:0002475	Myelomeningocele	341640	FREM2	ORPHA:2052
HP:0002475	Myelomeningocele	80144	FRAS1	ORPHA:2052
HP:0002475	Myelomeningocele	80144	FRAS1	OMIM:219000
HP:0002475	Myelomeningocele	23426	GRIP1	ORPHA:2052
HP:0002475	Myelomeningocele	5077	PAX3	OMIM:193500
HP:0002475	Myelomeningocele	4488	MSX2	ORPHA:60015
HP:0002475	Myelomeningocele	60529	ALX4	ORPHA:60015
HP:0002475	Myelomeningocele	5290	PIK3CA	ORPHA:140944
HP:0002475	Myelomeningocele	168667	BMPER	ORPHA:66637
HP:0002475	Myelomeningocele	4733	DRG1	OMIM:620641
HP:0002475	Myelomeningocele	6347	CCL2	OMIM:182940
HP:0002475	Myelomeningocele	81839	VANGL1	OMIM:182940
HP:0002475	Myelomeningocele	81839	VANGL1	OMIM:600145
HP:0002475	Myelomeningocele	80199	FUZ	OMIM:182940
HP:0002475	Myelomeningocele	6862	TBXT	OMIM:182940
HP:0002475	Myelomeningocele	57216	VANGL2	OMIM:182940
HP:0002475	Myelomeningocele	10093	ARPC4	OMIM:620141
HP:0002475	Myelomeningocele	25942	SIN3A	ORPHA:94065
HP:0002475	Myelomeningocele	6628	SNRPB	ORPHA:1393
HP:0002475	Myelomeningocele	84667	HES7	OMIM:613686
HP:0002475	Myelomeningocele	8481	OFD1	OMIM:311200
HP:0002475	Myelomeningocele	51339	DACT1	ORPHA:63260
HP:0002475	Myelomeningocele	2737	GLI3	ORPHA:93322
HP:0002475	Myelomeningocele	2316	FLNA	ORPHA:90652
HP:0002475	Myelomeningocele	3481	IGF2	ORPHA:2128
HP:0002475	Myelomeningocele	10984	KCNQ1OT1	ORPHA:2128
HP:0002475	Myelomeningocele	283120	H19	ORPHA:2128
HP:0002476	Primitive reflex	54209	TREM2	OMIM:618193
HP:0002476	Primitive reflex	51324	SPG21	OMIM:248900
HP:0002476	Primitive reflex	51324	SPG21	ORPHA:101001
HP:0002476	Primitive reflex	5663	PSEN1	OMIM:600274
HP:0002476	Primitive reflex	5663	PSEN1	OMIM:172700
HP:0002476	Primitive reflex	4137	MAPT	OMIM:600274
HP:0002476	Primitive reflex	4137	MAPT	OMIM:172700
HP:0002476	Primitive reflex	5832	ALDH18A1	ORPHA:447760
HP:0002476	Primitive reflex	63895	PIEZO2	OMIM:248700
HP:0002476	Primitive reflex	4728	NDUFS8	OMIM:618222
HP:0002476	Primitive reflex	8818	DPM2	OMIM:615042
HP:0002476	Primitive reflex	2760	GM2A	ORPHA:309246
HP:0002476	Primitive reflex	2760	GM2A	OMIM:272750
HP:0002476	Primitive reflex	7305	TYROBP	OMIM:221770
HP:0002476	Primitive reflex	8722	CTSF	OMIM:615362
HP:0002476	Primitive reflex	6487	ST3GAL3	OMIM:615006
HP:0002476	Primitive reflex	22931	RAB18	OMIM:614222
HP:0002476	Primitive reflex	1786	DNMT1	ORPHA:314404
HP:0002476	Primitive reflex	1786	DNMT1	OMIM:604121
HP:0002476	Primitive reflex	3032	HADHB	ORPHA:746
HP:0002476	Primitive reflex	3030	HADHA	ORPHA:746
HP:0002476	Primitive reflex	57338	JPH3	ORPHA:98934
HP:0002476	Primitive reflex	1639	DCTN1	OMIM:168605
HP:0002476	Primitive reflex	4311	MME	OMIM:617018
HP:0002476	Primitive reflex	23400	ATP13A2	OMIM:606693
HP:0002476	Primitive reflex	10381	TUBB3	ORPHA:300570
HP:0002476	Primitive reflex	5277	PIGA	OMIM:300868
HP:0002476	Primitive reflex	16	AARS1	OMIM:619661
HP:0002476	Primitive reflex	9829	DNAJC6	OMIM:615528
HP:0002476	Primitive reflex	2743	GLRB	OMIM:614619
HP:0002476	Primitive reflex	55768	NGLY1	OMIM:615273
HP:0002476	Primitive reflex	55768	NGLY1	ORPHA:404454
HP:0002476	Primitive reflex	7546	ZIC2	OMIM:609637
HP:0007340	Lower limb muscle weakness	1134	CHRNA1	OMIM:601462
HP:0007340	Lower limb muscle weakness	23111	SPART	OMIM:275900
HP:0007340	Lower limb muscle weakness	1410	CRYAB	OMIM:608810
HP:0007340	Lower limb muscle weakness	4524	MTHFR	ORPHA:395
HP:0007340	Lower limb muscle weakness	9897	WASHC5	ORPHA:100989
HP:0007340	Lower limb muscle weakness	9897	WASHC5	OMIM:603563
HP:0007340	Lower limb muscle weakness	91574	MTRFR	ORPHA:254930
HP:0007340	Lower limb muscle weakness	91574	MTRFR	OMIM:615035
HP:0007340	Lower limb muscle weakness	91574	MTRFR	ORPHA:320375
HP:0007340	Lower limb muscle weakness	6683	SPAST	ORPHA:100985
HP:0007340	Lower limb muscle weakness	6683	SPAST	OMIM:182601
HP:0007340	Lower limb muscle weakness	9420	CYP7B1	ORPHA:100986
HP:0007340	Lower limb muscle weakness	9420	CYP7B1	OMIM:270800
HP:0007340	Lower limb muscle weakness	23345	SYNE1	ORPHA:88644
HP:0007340	Lower limb muscle weakness	5994	RFXAP	OMIM:620817
HP:0007340	Lower limb muscle weakness	80821	DDHD1	OMIM:609340
HP:0007340	Lower limb muscle weakness	80821	DDHD1	ORPHA:101008
HP:0007340	Lower limb muscle weakness	8291	DYSF	OMIM:254130
HP:0007340	Lower limb muscle weakness	8291	DYSF	ORPHA:268
HP:0007340	Lower limb muscle weakness	1593	CYP27A1	OMIM:213700
HP:0007340	Lower limb muscle weakness	4747	NEFL	ORPHA:99939
HP:0007340	Lower limb muscle weakness	4747	NEFL	OMIM:607684
HP:0007340	Lower limb muscle weakness	4747	NEFL	OMIM:617882
HP:0007340	Lower limb muscle weakness	7138	TNNT1	OMIM:620389
HP:0007340	Lower limb muscle weakness	6709	SPTAN1	OMIM:620540
HP:0007340	Lower limb muscle weakness	6709	SPTAN1	OMIM:620538
HP:0007340	Lower limb muscle weakness	825	CAPN3	OMIM:253600
HP:0007340	Lower limb muscle weakness	825	CAPN3	ORPHA:267
HP:0007340	Lower limb muscle weakness	6687	SPG7	ORPHA:99013
HP:0007340	Lower limb muscle weakness	6687	SPG7	OMIM:607259
HP:0007340	Lower limb muscle weakness	123606	NIPA1	OMIM:600363
HP:0007340	Lower limb muscle weakness	2617	GARS1	OMIM:619042
HP:0007340	Lower limb muscle weakness	55187	VPS13D	OMIM:607317
HP:0007340	Lower limb muscle weakness	81790	RNF170	OMIM:619686
HP:0007340	Lower limb muscle weakness	729920	CRPPA	OMIM:616052
HP:0007340	Lower limb muscle weakness	8566	PDXK	OMIM:618511
HP:0007340	Lower limb muscle weakness	518	ATP5MC3	OMIM:619681
HP:0007340	Lower limb muscle weakness	63895	PIEZO2	OMIM:617146
HP:0007340	Lower limb muscle weakness	2137	EXTL3	OMIM:617425
HP:0007340	Lower limb muscle weakness	2782	GNB1	OMIM:616973
HP:0007340	Lower limb muscle weakness	3897	L1CAM	ORPHA:306617
HP:0007340	Lower limb muscle weakness	8891	EIF2B3	OMIM:620313
HP:0007340	Lower limb muscle weakness	547	KIF1A	OMIM:610357
HP:0007340	Lower limb muscle weakness	2581	GALC	ORPHA:206448
HP:0007340	Lower limb muscle weakness	8892	EIF2B2	OMIM:620312
HP:0007340	Lower limb muscle weakness	25778	DSTYK	OMIM:270750
HP:0007340	Lower limb muscle weakness	51324	SPG21	OMIM:248900
HP:0007340	Lower limb muscle weakness	51324	SPG21	ORPHA:101001
HP:0007340	Lower limb muscle weakness	2273	FHL1	OMIM:300695
HP:0007340	Lower limb muscle weakness	51116	MRPS2	OMIM:617950
HP:0007340	Lower limb muscle weakness	84665	MYPN	ORPHA:171881
HP:0007340	Lower limb muscle weakness	7169	TPM2	ORPHA:171881
HP:0007340	Lower limb muscle weakness	7169	TPM2	OMIM:609285
HP:0007340	Lower limb muscle weakness	7170	TPM3	ORPHA:171881
HP:0007340	Lower limb muscle weakness	9692	PRORP	OMIM:619737
HP:0007340	Lower limb muscle weakness	1716	DGUOK	ORPHA:329314
HP:0007340	Lower limb muscle weakness	4358	MPV17	OMIM:256810
HP:0007340	Lower limb muscle weakness	5290	PIK3CA	ORPHA:140944
HP:0007340	Lower limb muscle weakness	5290	PIK3CA	ORPHA:2495
HP:0007340	Lower limb muscle weakness	54463	RETREG1	OMIM:613115
HP:0007340	Lower limb muscle weakness	5921	RASA1	ORPHA:90307
HP:0007340	Lower limb muscle weakness	10558	SPTLC1	OMIM:620285
HP:0007340	Lower limb muscle weakness	10939	AFG3L2	ORPHA:313772
HP:0007340	Lower limb muscle weakness	10939	AFG3L2	OMIM:614487
HP:0007340	Lower limb muscle weakness	2332	FMR1	ORPHA:93256
HP:0007340	Lower limb muscle weakness	10020	GNE	ORPHA:602
HP:0007340	Lower limb muscle weakness	823	CAPN1	OMIM:616907
HP:0007340	Lower limb muscle weakness	823	CAPN1	ORPHA:488594
HP:0007340	Lower limb muscle weakness	9217	VAPB	ORPHA:209335
HP:0007340	Lower limb muscle weakness	9217	VAPB	ORPHA:803
HP:0007340	Lower limb muscle weakness	112812	FDX2	OMIM:251900
HP:0007340	Lower limb muscle weakness	857	CAV1	OMIM:606721
HP:0007340	Lower limb muscle weakness	215	ABCD1	OMIM:300100
HP:0007340	Lower limb muscle weakness	5297	PI4KA	OMIM:619621
HP:0007340	Lower limb muscle weakness	10667	FARS2	OMIM:617046
HP:0007340	Lower limb muscle weakness	65055	REEP1	OMIM:610250
HP:0007340	Lower limb muscle weakness	246243	RNASEH1	OMIM:616479
HP:0007340	Lower limb muscle weakness	80208	SPG11	ORPHA:2822
HP:0007340	Lower limb muscle weakness	80208	SPG11	OMIM:604360
HP:0007340	Lower limb muscle weakness	11160	ERLIN2	OMIM:611225
HP:0007340	Lower limb muscle weakness	11160	ERLIN2	OMIM:620512
HP:0007340	Lower limb muscle weakness	84668	HYCC1	OMIM:610532
HP:0007340	Lower limb muscle weakness	9907	AP5Z1	OMIM:613647
HP:0007340	Lower limb muscle weakness	9907	AP5Z1	ORPHA:306511
HP:0007340	Lower limb muscle weakness	9531	BAG3	OMIM:612954
HP:0007340	Lower limb muscle weakness	29967	LRP12	OMIM:620452
HP:0007340	Lower limb muscle weakness	5376	PMP22	ORPHA:3115
HP:0007340	Lower limb muscle weakness	4359	MPZ	ORPHA:3115
HP:0007340	Lower limb muscle weakness	2313	FLI1	ORPHA:370348
HP:0007340	Lower limb muscle weakness	54332	GDAP1	OMIM:608340
HP:0007340	Lower limb muscle weakness	5621	PRNP	ORPHA:356
HP:0007340	Lower limb muscle weakness	5621	PRNP	OMIM:137440
HP:0007340	Lower limb muscle weakness	9997	SCO2	OMIM:604377
HP:0007340	Lower limb muscle weakness	9997	SCO2	ORPHA:521411
HP:0007340	Lower limb muscle weakness	79784	MYH14	ORPHA:397744
HP:0007340	Lower limb muscle weakness	9197	SLC33A1	ORPHA:171863
HP:0007340	Lower limb muscle weakness	5255	PHKA1	OMIM:300559
HP:0007340	Lower limb muscle weakness	23259	DDHD2	OMIM:615033
HP:0007340	Lower limb muscle weakness	4744	NEFH	OMIM:616924
HP:0007340	Lower limb muscle weakness	4744	NEFH	ORPHA:803
HP:0007340	Lower limb muscle weakness	3839	KPNA3	OMIM:620106
HP:0007340	Lower limb muscle weakness	3839	KPNA3	ORPHA:171612
HP:0007340	Lower limb muscle weakness	8314	BAP1	ORPHA:2495
HP:0007340	Lower limb muscle weakness	4771	NF2	ORPHA:2495
HP:0007340	Lower limb muscle weakness	6598	SMARCB1	ORPHA:2495
HP:0007340	Lower limb muscle weakness	5155	PDGFB	ORPHA:2495
HP:0007340	Lower limb muscle weakness	84231	TRAF7	ORPHA:2495
HP:0007340	Lower limb muscle weakness	6608	SMO	ORPHA:2495
HP:0007340	Lower limb muscle weakness	207	AKT1	ORPHA:2495
HP:0007340	Lower limb muscle weakness	7015	TERT	ORPHA:2495
HP:0007340	Lower limb muscle weakness	51684	SUFU	ORPHA:2495
HP:0007340	Lower limb muscle weakness	6605	SMARCE1	ORPHA:2495
HP:0007340	Lower limb muscle weakness	1639	DCTN1	OMIM:607641
HP:0007340	Lower limb muscle weakness	1639	DCTN1	ORPHA:803
HP:0007340	Lower limb muscle weakness	3032	HADHB	ORPHA:746
HP:0007340	Lower limb muscle weakness	3030	HADHA	ORPHA:746
HP:0007340	Lower limb muscle weakness	9990	SLC12A6	OMIM:620068
HP:0007340	Lower limb muscle weakness	100134444	KCNJ18	ORPHA:79102
HP:0007340	Lower limb muscle weakness	2556	GABRA3	ORPHA:79102
HP:0007340	Lower limb muscle weakness	779	CACNA1S	ORPHA:79102
HP:0007340	Lower limb muscle weakness	6606	SMN1	OMIM:253400
HP:0007340	Lower limb muscle weakness	6607	SMN2	OMIM:253400
HP:0007340	Lower limb muscle weakness	23503	ZFYVE26	OMIM:270700
HP:0007340	Lower limb muscle weakness	3766	KCNJ10	ORPHA:199343
HP:0007340	Lower limb muscle weakness	4763	NF1	OMIM:162210
HP:0007340	Lower limb muscle weakness	6305	SBF1	OMIM:615284
HP:0007340	Lower limb muscle weakness	6253	RTN2	OMIM:604805
HP:0007340	Lower limb muscle weakness	6253	RTN2	ORPHA:100993
HP:0007340	Lower limb muscle weakness	5165	PDK3	ORPHA:352675
HP:0007340	Lower limb muscle weakness	10342	TFG	ORPHA:90117
HP:0007340	Lower limb muscle weakness	3708	ITPR1	OMIM:117360
HP:0007340	Lower limb muscle weakness	55072	RNF31	OMIM:620632
HP:0007340	Lower limb muscle weakness	84033	OBSCN	ORPHA:99845
HP:0007340	Lower limb muscle weakness	23175	LPIN1	ORPHA:99845
HP:0007340	Lower limb muscle weakness	4512	MT-CO1	ORPHA:99845
HP:0007340	Lower limb muscle weakness	4514	MT-CO3	ORPHA:99845
HP:0007340	Lower limb muscle weakness	23299	BICD2	OMIM:615290
HP:0007340	Lower limb muscle weakness	427	ASAH1	ORPHA:2590
HP:0007340	Lower limb muscle weakness	4508	MT-ATP6	ORPHA:225154
HP:0007340	Lower limb muscle weakness	23636	NUP62	ORPHA:225154
HP:0007340	Lower limb muscle weakness	53371	NUP54	ORPHA:225154
HP:0007340	Lower limb muscle weakness	103	ADAR	ORPHA:225154
HP:0007340	Lower limb muscle weakness	81545	FBXO38	OMIM:615575
HP:0007340	Lower limb muscle weakness	3329	HSPD1	OMIM:605280
HP:0007340	Lower limb muscle weakness	3329	HSPD1	ORPHA:100994
HP:0007340	Lower limb muscle weakness	55681	SCYL2	ORPHA:1143
HP:0007340	Lower limb muscle weakness	84570	COL25A1	ORPHA:1143
HP:0007340	Lower limb muscle weakness	57222	ERGIC1	ORPHA:1143
HP:0007340	Lower limb muscle weakness	7415	VCP	OMIM:613954
HP:0007340	Lower limb muscle weakness	7415	VCP	ORPHA:803
HP:0007340	Lower limb muscle weakness	1073	CFL2	OMIM:610687
HP:0007340	Lower limb muscle weakness	51062	ATL1	OMIM:182600
HP:0007340	Lower limb muscle weakness	57704	GBA2	OMIM:614409
HP:0007340	Lower limb muscle weakness	81846	SBF2	ORPHA:99956
HP:0007340	Lower limb muscle weakness	5354	PLP1	OMIM:312920
HP:0007340	Lower limb muscle weakness	25978	CHMP2B	ORPHA:803
HP:0007340	Lower limb muscle weakness	3178	HNRNPA1	ORPHA:803
HP:0007340	Lower limb muscle weakness	8148	TAF15	ORPHA:803
HP:0007340	Lower limb muscle weakness	5445	PON2	ORPHA:803
HP:0007340	Lower limb muscle weakness	8878	SQSTM1	ORPHA:803
HP:0007340	Lower limb muscle weakness	5630	PRPH	ORPHA:803
HP:0007340	Lower limb muscle weakness	29110	TBK1	ORPHA:803
HP:0007340	Lower limb muscle weakness	55830	GLT8D1	ORPHA:803
HP:0007340	Lower limb muscle weakness	755	CFAP410	ORPHA:803
HP:0007340	Lower limb muscle weakness	10891	PPARGC1A	ORPHA:803
HP:0007340	Lower limb muscle weakness	6647	SOD1	ORPHA:803
HP:0007340	Lower limb muscle weakness	10133	OPTN	ORPHA:803
HP:0007340	Lower limb muscle weakness	9896	FIG4	ORPHA:803
HP:0007340	Lower limb muscle weakness	5444	PON1	ORPHA:803
HP:0007340	Lower limb muscle weakness	5446	PON3	ORPHA:803
HP:0007340	Lower limb muscle weakness	5216	PFN1	ORPHA:803
HP:0007340	Lower limb muscle weakness	9782	MATR3	ORPHA:803
HP:0007340	Lower limb muscle weakness	54209	TREM2	ORPHA:803
HP:0007340	Lower limb muscle weakness	283	ANG	ORPHA:803
HP:0007340	Lower limb muscle weakness	23435	TARDBP	ORPHA:803
HP:0007340	Lower limb muscle weakness	29978	UBQLN2	ORPHA:803
HP:0007340	Lower limb muscle weakness	2733	GLE1	ORPHA:803
HP:0007340	Lower limb muscle weakness	2521	FUS	ORPHA:803
HP:0007340	Lower limb muscle weakness	4750	NEK1	ORPHA:803
HP:0007340	Lower limb muscle weakness	6311	ATXN2	ORPHA:803
HP:0007340	Lower limb muscle weakness	1610	DAO	ORPHA:803
HP:0007340	Lower limb muscle weakness	2066	ERBB4	ORPHA:803
HP:0007340	Lower limb muscle weakness	311	ANXA11	ORPHA:803
HP:0007340	Lower limb muscle weakness	23025	UNC13A	ORPHA:803
HP:0007340	Lower limb muscle weakness	899	CCNF	ORPHA:803
HP:0007340	Lower limb muscle weakness	400916	CHCHD10	ORPHA:803
HP:0007340	Lower limb muscle weakness	26580	BSCL2	OMIM:270685
HP:0007340	Lower limb muscle weakness	51271	UBAP1	ORPHA:100993
HP:0007340	Lower limb muscle weakness	3798	KIF5A	ORPHA:100991
HP:0007340	Lower limb muscle weakness	3798	KIF5A	OMIM:604187
HP:0007340	Lower limb muscle weakness	29925	GMPPB	ORPHA:363623
HP:0007340	Lower limb muscle weakness	3991	LIPE	OMIM:615980
HP:0007340	Lower limb muscle weakness	3508	IGHMBP2	OMIM:616155
HP:0007340	Lower limb muscle weakness	10280	SIGMAR1	OMIM:614373
HP:0007340	Lower limb muscle weakness	16	AARS1	OMIM:613287
HP:0007340	Lower limb muscle weakness	2583	B4GALNT1	OMIM:609195
HP:0007340	Lower limb muscle weakness	3315	HSPB1	ORPHA:99940
HP:0007340	Lower limb muscle weakness	7273	TTN	OMIM:600334
HP:0007340	Lower limb muscle weakness	7273	TTN	ORPHA:178464
HP:0007340	Lower limb muscle weakness	3094	HINT1	ORPHA:324442
HP:0007340	Lower limb muscle weakness	59341	TRPV4	OMIM:606071
HP:0007340	Lower limb muscle weakness	59341	TRPV4	OMIM:600175
HP:0007340	Lower limb muscle weakness	4137	MAPT	ORPHA:240094
HP:0007340	Lower limb muscle weakness	4311	MME	OMIM:617017
HP:0007340	Lower limb muscle weakness	4311	MME	ORPHA:497764
HP:0007340	Lower limb muscle weakness	11284	PNKP	ORPHA:459033
HP:0007340	Lower limb muscle weakness	55775	TDP1	ORPHA:94124
HP:0007340	Lower limb muscle weakness	4000	LMNA	OMIM:181350
HP:0007340	Lower limb muscle weakness	4000	LMNA	ORPHA:98856
HP:0007340	Lower limb muscle weakness	5339	PLEC	ORPHA:254361
HP:0007340	Lower limb muscle weakness	7879	RAB7A	OMIM:600882
HP:0007340	Lower limb muscle weakness	200205	IBA57	ORPHA:468661
HP:0007340	Lower limb muscle weakness	3714	JAG2	OMIM:619566
HP:0007340	Lower limb muscle weakness	6652	SORD	OMIM:618912
HP:0007340	Lower limb muscle weakness	79048	SECISBP2	ORPHA:171706
HP:0007340	Lower limb muscle weakness	22880	MORC2	ORPHA:466768
HP:0007340	Lower limb muscle weakness	3035	HARS1	ORPHA:488333
HP:0007340	Lower limb muscle weakness	10073	SNUPN	OMIM:620793
HP:0007340	Lower limb muscle weakness	4625	MYH7	OMIM:160500
HP:0007340	Lower limb muscle weakness	122622	ADSS1	OMIM:617030
HP:0007340	Lower limb muscle weakness	122622	ADSS1	ORPHA:482601
HP:0007340	Lower limb muscle weakness	10908	PNPLA6	OMIM:612020
HP:0007340	Lower limb muscle weakness	64856	VWA1	OMIM:619216
HP:0007340	Lower limb muscle weakness	4547	MTTP	ORPHA:14
HP:0007340	Lower limb muscle weakness	8557	TCAP	OMIM:601954
HP:0007340	Lower limb muscle weakness	2705	GJB1	OMIM:302800
HP:0007340	Lower limb muscle weakness	9517	SPTLC2	OMIM:613640
HP:0007340	Lower limb muscle weakness	8884	SLC5A6	OMIM:619903
HP:0007340	Lower limb muscle weakness	7453	WARS1	OMIM:617721
HP:0007340	Lower limb muscle weakness	55526	DHTKD1	OMIM:615025
HP:0007340	Lower limb muscle weakness	9131	AIFM1	OMIM:310490
HP:0007340	Lower limb muscle weakness	121512	FGD4	OMIM:609311
HP:0007340	Lower limb muscle weakness	353116	RILPL1	ORPHA:98897
HP:0007340	Lower limb muscle weakness	10755	GIPC1	ORPHA:98897
HP:0007340	Lower limb muscle weakness	100996717	NOTCH2NLC	ORPHA:98897
HP:0007340	Lower limb muscle weakness	203859	ANO5	ORPHA:399096
HP:0007340	Lower limb muscle weakness	203859	ANO5	OMIM:613319
HP:0007340	Lower limb muscle weakness	203859	ANO5	ORPHA:206549
HP:0007340	Lower limb muscle weakness	8988	HSPB3	OMIM:613376
HP:0007340	Lower limb muscle weakness	2318	FLNC	ORPHA:63273
HP:0007340	Lower limb muscle weakness	64419	MTMR14	OMIM:160150
HP:0007340	Lower limb muscle weakness	1785	DNM2	OMIM:160150
HP:0007340	Lower limb muscle weakness	5375	PMP2	OMIM:618279
HP:0007340	Lower limb muscle weakness	10516	FBLN5	OMIM:619764
HP:0007340	Lower limb muscle weakness	60482	SLC5A7	ORPHA:98914
HP:0007340	Lower limb muscle weakness	4649	MYO9A	ORPHA:98914
HP:0007340	Lower limb muscle weakness	1305	COL13A1	ORPHA:98914
HP:0007340	Lower limb muscle weakness	1103	CHAT	ORPHA:98914
HP:0007340	Lower limb muscle weakness	6576	SLC25A1	ORPHA:98914
HP:0007340	Lower limb muscle weakness	6843	VAMP1	ORPHA:98914
HP:0007340	Lower limb muscle weakness	375790	AGRN	ORPHA:98914
HP:0007340	Lower limb muscle weakness	127833	SYT2	ORPHA:98914
HP:0007340	Lower limb muscle weakness	6572	SLC18A3	ORPHA:98914
HP:0007340	Lower limb muscle weakness	6616	SNAP25	ORPHA:98914
HP:0007340	Lower limb muscle weakness	26353	HSPB8	OMIM:158590
HP:0007340	Lower limb muscle weakness	7428	VHL	ORPHA:892
HP:0007340	Lower limb muscle weakness	595	CCND1	ORPHA:892
HP:0007340	Lower limb muscle weakness	11117	EMILIN1	OMIM:620080
HP:0007340	Lower limb muscle weakness	1674	DES	ORPHA:98909
HP:0007340	Lower limb muscle weakness	10229	COQ7	OMIM:620402
HP:0007340	Lower limb muscle weakness	57410	SCYL1	ORPHA:466794
HP:0007340	Lower limb muscle weakness	3098	HK1	ORPHA:99953
HP:0007340	Lower limb muscle weakness	3098	HK1	OMIM:605285
HP:0007340	Lower limb muscle weakness	126129	CPT1C	ORPHA:444099
HP:0007340	Lower limb muscle weakness	10397	NDRG1	ORPHA:99950
HP:0007340	Lower limb muscle weakness	23676	SMPX	OMIM:301075
HP:0007340	Lower limb muscle weakness	59345	GNB4	OMIM:615185
HP:0007340	Lower limb muscle weakness	1959	EGR2	OMIM:145900
HP:0007340	Lower limb muscle weakness	57716	PRX	OMIM:145900
HP:0007340	Lower limb muscle weakness	9927	MFN2	ORPHA:99947
HP:0007340	Lower limb muscle weakness	1757	SARDH	ORPHA:3129
HP:0007340	Lower limb muscle weakness	2218	FKTN	OMIM:611588
HP:0007340	Lower limb muscle weakness	2992	GYG1	OMIM:616199
HP:0002478	Progressive spastic quadriplegia	410	ARSA	ORPHA:309271
HP:0002478	Progressive spastic quadriplegia	5660	PSAP	ORPHA:309271
HP:0002478	Progressive spastic quadriplegia	23400	ATP13A2	ORPHA:513436
HP:0002478	Progressive spastic quadriplegia	5354	PLP1	ORPHA:280234
HP:0002478	Progressive spastic quadriplegia	5354	PLP1	OMIM:312080
HP:0002478	Progressive spastic quadriplegia	54	ACP5	OMIM:607944
HP:0002478	Progressive spastic quadriplegia	2760	GM2A	ORPHA:309246
HP:0002478	Progressive spastic quadriplegia	79152	FA2H	ORPHA:329308
HP:0002478	Progressive spastic quadriplegia	6711	SPTBN1	OMIM:619475
HP:0002478	Progressive spastic quadriplegia	133686	NADK2	ORPHA:431361
HP:0002478	Progressive spastic quadriplegia	9373	PLAA	ORPHA:521426
HP:0002478	Progressive spastic quadriplegia	383	ARG1	OMIM:207800
HP:0002478	Progressive spastic quadriplegia	383	ARG1	ORPHA:90
HP:0002478	Progressive spastic quadriplegia	5048	PAFAH1B1	ORPHA:95232
HP:0020050	Anti-granulocyte-macrophage colony stimulating factor antibody positivity	1439	CSF2RB	OMIM:614370
HP:0020054	Abnormal erythrocyte physiology	2035	EPB41	ORPHA:288
HP:0020054	Abnormal erythrocyte physiology	2995	GYPC	ORPHA:288
HP:0020054	Abnormal erythrocyte physiology	6710	SPTB	ORPHA:288
HP:0020054	Abnormal erythrocyte physiology	6710	SPTB	OMIM:616649
HP:0020054	Abnormal erythrocyte physiology	6710	SPTB	ORPHA:822
HP:0020054	Abnormal erythrocyte physiology	6708	SPTA1	ORPHA:288
HP:0020054	Abnormal erythrocyte physiology	6708	SPTA1	ORPHA:822
HP:0020054	Abnormal erythrocyte physiology	5313	PKLR	OMIM:266200
HP:0020054	Abnormal erythrocyte physiology	6005	RHAG	OMIM:185000
HP:0020054	Abnormal erythrocyte physiology	6005	RHAG	OMIM:268150
HP:0020054	Abnormal erythrocyte physiology	6005	RHAG	ORPHA:3203
HP:0020054	Abnormal erythrocyte physiology	6005	RHAG	ORPHA:71275
HP:0020054	Abnormal erythrocyte physiology	2038	EPB42	OMIM:612690
HP:0020054	Abnormal erythrocyte physiology	2038	EPB42	ORPHA:822
HP:0020054	Abnormal erythrocyte physiology	6006	RHCE	OMIM:617970
HP:0020054	Abnormal erythrocyte physiology	6006	RHCE	ORPHA:71275
HP:0020054	Abnormal erythrocyte physiology	6521	SLC4A1	OMIM:612653
HP:0020054	Abnormal erythrocyte physiology	6521	SLC4A1	ORPHA:3202
HP:0020054	Abnormal erythrocyte physiology	6521	SLC4A1	ORPHA:822
HP:0020054	Abnormal erythrocyte physiology	9780	PIEZO1	ORPHA:3202
HP:0020054	Abnormal erythrocyte physiology	3783	KCNN4	ORPHA:3202
HP:0020054	Abnormal erythrocyte physiology	6007	RHD	ORPHA:71275
HP:0020054	Abnormal erythrocyte physiology	286	ANK1	OMIM:182900
HP:0020054	Abnormal erythrocyte physiology	286	ANK1	ORPHA:822
HP:0020054	Abnormal erythrocyte physiology	8671	SLC4A4	OMIM:604278
HP:0020054	Abnormal erythrocyte physiology	3043	HBB	ORPHA:2133
HP:0020058	Abnormal red blood cell count	3043	HBB	ORPHA:2133
HP:0020059	Increased red blood cell count	3043	HBB	ORPHA:2133
HP:0031766	Convergence excess esotropia	9968	MED12	OMIM:301068
HP:0031772	Abnormal posterior circulating artery morphology	84667	HES7	OMIM:613686
HP:0002480	Hepatic encephalopathy	7840	ALMS1	ORPHA:64
HP:0002480	Hepatic encephalopathy	811	CALR	ORPHA:131
HP:0002480	Hepatic encephalopathy	3717	JAK2	ORPHA:131
HP:0002480	Hepatic encephalopathy	2153	F5	ORPHA:131
HP:0002480	Hepatic encephalopathy	3594	IL12RB1	ORPHA:186
HP:0002480	Hepatic encephalopathy	23534	TNPO3	ORPHA:186
HP:0002480	Hepatic encephalopathy	3592	IL12A	ORPHA:186
HP:0002480	Hepatic encephalopathy	6689	SPIB	ORPHA:186
HP:0002480	Hepatic encephalopathy	5450	POU2AF1	ORPHA:186
HP:0002480	Hepatic encephalopathy	9966	TNFSF15	ORPHA:186
HP:0002480	Hepatic encephalopathy	79258	MMEL1	ORPHA:186
HP:0002480	Hepatic encephalopathy	3663	IRF5	ORPHA:186
HP:0002480	Hepatic encephalopathy	51594	NBAS	OMIM:616483
HP:0002480	Hepatic encephalopathy	1738	DLD	ORPHA:2394
HP:0002480	Hepatic encephalopathy	60561	RINT1	OMIM:618641
HP:0002480	Hepatic encephalopathy	57169	ZNFX1	OMIM:619644
HP:0002480	Hepatic encephalopathy	5105	PCK1	OMIM:261680
HP:0002480	Hepatic encephalopathy	54914	FOCAD	OMIM:619991
HP:0002480	Hepatic encephalopathy	7289	TULP3	OMIM:619902
HP:0002480	Hepatic encephalopathy	10165	SLC25A13	ORPHA:247585
HP:0002480	Hepatic encephalopathy	6261	RYR1	ORPHA:466650
HP:0002480	Hepatic encephalopathy	4068	SH2D1A	OMIM:308240
HP:0002480	Hepatic encephalopathy	331	XIAP	OMIM:308240
HP:0002480	Hepatic encephalopathy	9451	EIF2AK3	ORPHA:1667
HP:0002483	Bulbar signs	410	ARSA	ORPHA:309271
HP:0002483	Bulbar signs	5660	PSAP	ORPHA:309271
HP:0002483	Bulbar signs	6261	RYR1	ORPHA:597
HP:0002483	Bulbar signs	65055	REEP1	ORPHA:101011
HP:0002483	Bulbar signs	4750	NEK1	OMIM:617892
HP:0002483	Bulbar signs	9782	MATR3	OMIM:606070
HP:0002483	Bulbar signs	84665	MYPN	ORPHA:171439
HP:0002483	Bulbar signs	58	ACTA1	ORPHA:171439
HP:0002483	Bulbar signs	7169	TPM2	ORPHA:171439
HP:0002483	Bulbar signs	390594	KBTBD13	ORPHA:171439
HP:0002483	Bulbar signs	4703	NEB	ORPHA:171439
HP:0002483	Bulbar signs	10324	KLHL41	ORPHA:171439
HP:0002483	Bulbar signs	7170	TPM3	ORPHA:171439
HP:0002483	Bulbar signs	773	CACNA1A	ORPHA:2131
HP:0002483	Bulbar signs	6507	SLC1A3	ORPHA:2131
HP:0002483	Bulbar signs	477	ATP1A2	ORPHA:2131
HP:0002483	Bulbar signs	478	ATP1A3	ORPHA:2131
HP:0002483	Bulbar signs	478	ATP1A3	OMIM:128235
HP:0002483	Bulbar signs	8398	PLA2G6	ORPHA:35069
HP:0002483	Bulbar signs	80208	SPG11	OMIM:602099
HP:0002483	Bulbar signs	80208	SPG11	ORPHA:300605
HP:0002483	Bulbar signs	9217	VAPB	ORPHA:209335
HP:0002483	Bulbar signs	9217	VAPB	OMIM:608627
HP:0002483	Bulbar signs	4535	MT-ND1	ORPHA:255210
HP:0002483	Bulbar signs	4536	MT-ND2	ORPHA:255210
HP:0002483	Bulbar signs	4537	MT-ND3	ORPHA:255210
HP:0002483	Bulbar signs	4538	MT-ND4	ORPHA:255210
HP:0002483	Bulbar signs	4567	MT-TL1	ORPHA:255210
HP:0002483	Bulbar signs	4578	MT-TW	ORPHA:255210
HP:0002483	Bulbar signs	4577	MT-TV	ORPHA:255210
HP:0002483	Bulbar signs	4508	MT-ATP6	ORPHA:255210
HP:0002483	Bulbar signs	4540	MT-ND5	ORPHA:255210
HP:0002483	Bulbar signs	4541	MT-ND6	ORPHA:255210
HP:0002483	Bulbar signs	4566	MT-TK	ORPHA:255210
HP:0002483	Bulbar signs	2521	FUS	ORPHA:300605
HP:0002483	Bulbar signs	10280	SIGMAR1	ORPHA:300605
HP:0002483	Bulbar signs	10558	SPTLC1	ORPHA:300605
HP:0002483	Bulbar signs	57679	ALS2	ORPHA:300605
HP:0002483	Bulbar signs	2629	GBA1	OMIM:230900
HP:0002483	Bulbar signs	2934	GSN	ORPHA:85448
HP:0002483	Bulbar signs	2670	GFAP	OMIM:203450
HP:0002483	Bulbar signs	10342	TFG	ORPHA:90117
HP:0002483	Bulbar signs	9373	PLAA	ORPHA:521426
HP:0002483	Bulbar signs	9373	PLAA	OMIM:617527
HP:0002483	Bulbar signs	9896	FIG4	OMIM:612577
HP:0002483	Bulbar signs	400916	CHCHD10	ORPHA:276435
HP:0002483	Bulbar signs	23516	SLC39A14	ORPHA:521406
HP:0002483	Bulbar signs	6310	ATXN1	ORPHA:98755
HP:0003693	Distal amyotrophy	4703	NEB	OMIM:256030
HP:0003693	Distal amyotrophy	1311	COMP	OMIM:619161
HP:0003693	Distal amyotrophy	91252	SLC39A13	ORPHA:157965
HP:0003693	Distal amyotrophy	91252	SLC39A13	OMIM:612350
HP:0003693	Distal amyotrophy	8985	PLOD3	OMIM:612394
HP:0003693	Distal amyotrophy	3710	ITPR3	OMIM:620111
HP:0003693	Distal amyotrophy	3425	IDUA	OMIM:607015
HP:0003693	Distal amyotrophy	9898	UBAP2L	OMIM:620494
HP:0003693	Distal amyotrophy	23064	SETX	OMIM:602433
HP:0003693	Distal amyotrophy	23064	SETX	OMIM:606002
HP:0003693	Distal amyotrophy	10749	KIF1C	ORPHA:397946
HP:0003693	Distal amyotrophy	10749	KIF1C	OMIM:611302
HP:0003693	Distal amyotrophy	4359	MPZ	OMIM:618184
HP:0003693	Distal amyotrophy	4359	MPZ	OMIM:180800
HP:0003693	Distal amyotrophy	4359	MPZ	OMIM:607677
HP:0003693	Distal amyotrophy	4359	MPZ	OMIM:607791
HP:0003693	Distal amyotrophy	4359	MPZ	ORPHA:3115
HP:0003693	Distal amyotrophy	4359	MPZ	OMIM:118200
HP:0003693	Distal amyotrophy	4359	MPZ	OMIM:607736
HP:0003693	Distal amyotrophy	4359	MPZ	OMIM:145900
HP:0003693	Distal amyotrophy	7072	TIA1	OMIM:604454
HP:0003693	Distal amyotrophy	23111	SPART	OMIM:275900
HP:0003693	Distal amyotrophy	23111	SPART	ORPHA:101000
HP:0003693	Distal amyotrophy	4141	MARS1	OMIM:616280
HP:0003693	Distal amyotrophy	10020	GNE	OMIM:605820
HP:0003693	Distal amyotrophy	23769	FLRT1	ORPHA:320406
HP:0003693	Distal amyotrophy	64837	KLC2	ORPHA:320406
HP:0003693	Distal amyotrophy	64837	KLC2	OMIM:609541
HP:0003693	Distal amyotrophy	4287	ATXN3	OMIM:109150
HP:0003693	Distal amyotrophy	91574	MTRFR	ORPHA:254930
HP:0003693	Distal amyotrophy	5376	PMP22	OMIM:118300
HP:0003693	Distal amyotrophy	5376	PMP22	OMIM:180800
HP:0003693	Distal amyotrophy	5376	PMP22	ORPHA:3115
HP:0003693	Distal amyotrophy	5376	PMP22	OMIM:118220
HP:0003693	Distal amyotrophy	5376	PMP22	ORPHA:640
HP:0003693	Distal amyotrophy	5376	PMP22	OMIM:145900
HP:0003693	Distal amyotrophy	127833	SYT2	OMIM:616040
HP:0003693	Distal amyotrophy	127833	SYT2	ORPHA:98914
HP:0003693	Distal amyotrophy	6683	SPAST	ORPHA:100985
HP:0003693	Distal amyotrophy	112	ADCY6	OMIM:616287
HP:0003693	Distal amyotrophy	22880	MORC2	OMIM:616688
HP:0003693	Distal amyotrophy	22880	MORC2	ORPHA:466768
HP:0003693	Distal amyotrophy	4311	MME	OMIM:617018
HP:0003693	Distal amyotrophy	4311	MME	ORPHA:497764
HP:0003693	Distal amyotrophy	8291	DYSF	OMIM:254130
HP:0003693	Distal amyotrophy	50717	DCAF8	OMIM:610100
HP:0003693	Distal amyotrophy	57704	GBA2	ORPHA:352641
HP:0003693	Distal amyotrophy	19	ABCA1	OMIM:205400
HP:0003693	Distal amyotrophy	4747	NEFL	ORPHA:99939
HP:0003693	Distal amyotrophy	4747	NEFL	OMIM:607684
HP:0003693	Distal amyotrophy	4747	NEFL	OMIM:607734
HP:0003693	Distal amyotrophy	2617	GARS1	ORPHA:139536
HP:0003693	Distal amyotrophy	2617	GARS1	OMIM:619042
HP:0003693	Distal amyotrophy	2617	GARS1	OMIM:600794
HP:0003693	Distal amyotrophy	2617	GARS1	OMIM:601472
HP:0003693	Distal amyotrophy	26580	BSCL2	ORPHA:139536
HP:0003693	Distal amyotrophy	26580	BSCL2	OMIM:270685
HP:0003693	Distal amyotrophy	26580	BSCL2	ORPHA:100998
HP:0003693	Distal amyotrophy	65055	REEP1	ORPHA:139536
HP:0003693	Distal amyotrophy	65055	REEP1	OMIM:610250
HP:0003693	Distal amyotrophy	7415	VCP	OMIM:167320
HP:0003693	Distal amyotrophy	7415	VCP	ORPHA:435387
HP:0003693	Distal amyotrophy	7415	VCP	ORPHA:803
HP:0003693	Distal amyotrophy	55775	TDP1	ORPHA:94124
HP:0003693	Distal amyotrophy	55775	TDP1	OMIM:607250
HP:0003693	Distal amyotrophy	10516	FBLN5	OMIM:608895
HP:0003693	Distal amyotrophy	4000	LMNA	OMIM:181350
HP:0003693	Distal amyotrophy	4000	LMNA	OMIM:605588
HP:0003693	Distal amyotrophy	4000	LMNA	ORPHA:98856
HP:0003693	Distal amyotrophy	7879	RAB7A	OMIM:600882
HP:0003693	Distal amyotrophy	200205	IBA57	ORPHA:468661
HP:0003693	Distal amyotrophy	1959	EGR2	OMIM:607678
HP:0003693	Distal amyotrophy	1959	EGR2	OMIM:605253
HP:0003693	Distal amyotrophy	1959	EGR2	OMIM:145900
HP:0003693	Distal amyotrophy	10743	RAI1	ORPHA:477817
HP:0003693	Distal amyotrophy	54332	GDAP1	OMIM:607831
HP:0003693	Distal amyotrophy	54332	GDAP1	OMIM:607706
HP:0003693	Distal amyotrophy	54332	GDAP1	OMIM:214400
HP:0003693	Distal amyotrophy	54332	GDAP1	OMIM:608340
HP:0003693	Distal amyotrophy	54332	GDAP1	ORPHA:99948
HP:0003693	Distal amyotrophy	56704	JPH1	OMIM:607831
HP:0003693	Distal amyotrophy	10397	NDRG1	OMIM:601455
HP:0003693	Distal amyotrophy	55187	VPS13D	OMIM:607317
HP:0003693	Distal amyotrophy	538	ATP7A	OMIM:300489
HP:0003693	Distal amyotrophy	6311	ATXN2	OMIM:183090
HP:0003693	Distal amyotrophy	6311	ATXN2	ORPHA:803
HP:0003693	Distal amyotrophy	6905	TBCE	ORPHA:496756
HP:0003693	Distal amyotrophy	6905	TBCE	OMIM:617207
HP:0003693	Distal amyotrophy	80347	COASY	OMIM:615643
HP:0003693	Distal amyotrophy	90678	LRSAM1	OMIM:614436
HP:0003693	Distal amyotrophy	10908	PNPLA6	OMIM:275400
HP:0003693	Distal amyotrophy	10908	PNPLA6	OMIM:612020
HP:0003693	Distal amyotrophy	10908	PNPLA6	OMIM:215470
HP:0003693	Distal amyotrophy	3508	IGHMBP2	OMIM:604320
HP:0003693	Distal amyotrophy	81846	SBF2	OMIM:604563
HP:0003693	Distal amyotrophy	60482	SLC5A7	OMIM:158580
HP:0003693	Distal amyotrophy	60482	SLC5A7	ORPHA:98914
HP:0003693	Distal amyotrophy	547	KIF1A	ORPHA:101010
HP:0003693	Distal amyotrophy	4358	MPV17	OMIM:618400
HP:0003693	Distal amyotrophy	122622	ADSS1	OMIM:617030
HP:0003693	Distal amyotrophy	4704	NDUFA9	OMIM:618247
HP:0003693	Distal amyotrophy	55154	MSTO1	OMIM:617675
HP:0003693	Distal amyotrophy	55906	ZC4H2	OMIM:314580
HP:0003693	Distal amyotrophy	55906	ZC4H2	ORPHA:3454
HP:0003693	Distal amyotrophy	57449	PLEKHG5	OMIM:615376
HP:0003693	Distal amyotrophy	57449	PLEKHG5	OMIM:611067
HP:0003693	Distal amyotrophy	5631	PRPS1	OMIM:311070
HP:0003693	Distal amyotrophy	91137	SLC25A46	OMIM:616505
HP:0003693	Distal amyotrophy	93627	TBCK	OMIM:616900
HP:0003693	Distal amyotrophy	3035	HARS1	OMIM:616625
HP:0003693	Distal amyotrophy	29967	LRP12	OMIM:164310
HP:0003693	Distal amyotrophy	4361	MRE11	OMIM:604391
HP:0003693	Distal amyotrophy	80208	SPG11	OMIM:602099
HP:0003693	Distal amyotrophy	80208	SPG11	ORPHA:2822
HP:0003693	Distal amyotrophy	80208	SPG11	ORPHA:300605
HP:0003693	Distal amyotrophy	9499	MYOT	OMIM:609200
HP:0003693	Distal amyotrophy	9499	MYOT	ORPHA:98911
HP:0003693	Distal amyotrophy	10939	AFG3L2	ORPHA:313772
HP:0003693	Distal amyotrophy	10939	AFG3L2	OMIM:614487
HP:0003693	Distal amyotrophy	9217	VAPB	OMIM:608627
HP:0003693	Distal amyotrophy	9217	VAPB	ORPHA:803
HP:0003693	Distal amyotrophy	9217	VAPB	OMIM:182980
HP:0003693	Distal amyotrophy	26278	SACS	ORPHA:98
HP:0003693	Distal amyotrophy	26278	SACS	OMIM:270550
HP:0003693	Distal amyotrophy	51651	PTRH2	ORPHA:456312
HP:0003693	Distal amyotrophy	84892	POMGNT2	OMIM:618135
HP:0003693	Distal amyotrophy	83636	C19orf12	OMIM:614298
HP:0003693	Distal amyotrophy	83636	C19orf12	OMIM:615043
HP:0003693	Distal amyotrophy	26090	ABHD12	OMIM:612674
HP:0003693	Distal amyotrophy	3178	HNRNPA1	OMIM:610099
HP:0003693	Distal amyotrophy	3178	HNRNPA1	ORPHA:803
HP:0003693	Distal amyotrophy	23230	VPS13A	ORPHA:2388
HP:0003693	Distal amyotrophy	88	ACTN2	OMIM:618655
HP:0003693	Distal amyotrophy	54840	APTX	OMIM:208920
HP:0003693	Distal amyotrophy	89874	SLC25A21	OMIM:618811
HP:0003693	Distal amyotrophy	9927	MFN2	OMIM:601152
HP:0003693	Distal amyotrophy	9927	MFN2	OMIM:609260
HP:0003693	Distal amyotrophy	59341	TRPV4	ORPHA:1216
HP:0003693	Distal amyotrophy	59341	TRPV4	OMIM:600175
HP:0003693	Distal amyotrophy	10558	SPTLC1	ORPHA:36386
HP:0003693	Distal amyotrophy	10558	SPTLC1	ORPHA:300605
HP:0003693	Distal amyotrophy	25923	ATL3	ORPHA:36386
HP:0003693	Distal amyotrophy	9517	SPTLC2	ORPHA:36386
HP:0003693	Distal amyotrophy	51062	ATL1	ORPHA:36386
HP:0003693	Distal amyotrophy	9997	SCO2	OMIM:604377
HP:0003693	Distal amyotrophy	11284	PNKP	OMIM:605589
HP:0003693	Distal amyotrophy	81857	MED25	OMIM:605589
HP:0003693	Distal amyotrophy	65260	COA7	OMIM:618387
HP:0003693	Distal amyotrophy	203859	ANO5	ORPHA:399096
HP:0003693	Distal amyotrophy	100996717	NOTCH2NLC	OMIM:619473
HP:0003693	Distal amyotrophy	5255	PHKA1	OMIM:300559
HP:0003693	Distal amyotrophy	22948	CCT5	ORPHA:139578
HP:0003693	Distal amyotrophy	22948	CCT5	OMIM:256840
HP:0003693	Distal amyotrophy	1593	CYP27A1	ORPHA:909
HP:0003693	Distal amyotrophy	57863	CADM3	OMIM:619519
HP:0003693	Distal amyotrophy	1890	TYMP	OMIM:603041
HP:0003693	Distal amyotrophy	5428	POLG	OMIM:603041
HP:0003693	Distal amyotrophy	1639	DCTN1	OMIM:607641
HP:0003693	Distal amyotrophy	1639	DCTN1	ORPHA:803
HP:0003693	Distal amyotrophy	6606	SMN1	OMIM:253400
HP:0003693	Distal amyotrophy	6607	SMN2	OMIM:253400
HP:0003693	Distal amyotrophy	8898	MTMR2	OMIM:601382
HP:0003693	Distal amyotrophy	23503	ZFYVE26	OMIM:270700
HP:0003693	Distal amyotrophy	23503	ZFYVE26	ORPHA:100996
HP:0003693	Distal amyotrophy	55210	ATAD3A	OMIM:617183
HP:0003693	Distal amyotrophy	26137	ZBTB20	OMIM:259050
HP:0003693	Distal amyotrophy	2521	FUS	ORPHA:300605
HP:0003693	Distal amyotrophy	2521	FUS	ORPHA:803
HP:0003693	Distal amyotrophy	10280	SIGMAR1	ORPHA:300605
HP:0003693	Distal amyotrophy	10280	SIGMAR1	OMIM:605726
HP:0003693	Distal amyotrophy	57679	ALS2	ORPHA:300605
HP:0003693	Distal amyotrophy	57679	ALS2	OMIM:205100
HP:0003693	Distal amyotrophy	476	ATP1A1	OMIM:618036
HP:0003693	Distal amyotrophy	5375	PMP2	OMIM:618279
HP:0003693	Distal amyotrophy	23095	KIF1B	OMIM:118210
HP:0003693	Distal amyotrophy	5192	PEX10	OMIM:614871
HP:0003693	Distal amyotrophy	4649	MYO9A	ORPHA:98914
HP:0003693	Distal amyotrophy	1305	COL13A1	ORPHA:98914
HP:0003693	Distal amyotrophy	1103	CHAT	ORPHA:98914
HP:0003693	Distal amyotrophy	6576	SLC25A1	ORPHA:98914
HP:0003693	Distal amyotrophy	6843	VAMP1	ORPHA:98914
HP:0003693	Distal amyotrophy	375790	AGRN	ORPHA:98914
HP:0003693	Distal amyotrophy	6572	SLC18A3	ORPHA:98914
HP:0003693	Distal amyotrophy	6616	SNAP25	ORPHA:98914
HP:0003693	Distal amyotrophy	11261	CHP1	OMIM:618438
HP:0003693	Distal amyotrophy	5832	ALDH18A1	OMIM:219150
HP:0003693	Distal amyotrophy	7443	VRK1	OMIM:607596
HP:0003693	Distal amyotrophy	6663	SOX10	OMIM:609136
HP:0003693	Distal amyotrophy	8565	YARS1	OMIM:608323
HP:0003693	Distal amyotrophy	56652	TWNK	OMIM:271245
HP:0003693	Distal amyotrophy	9516	LITAF	OMIM:601098
HP:0003693	Distal amyotrophy	9147	NEMF	OMIM:619099
HP:0003693	Distal amyotrophy	178	AGL	OMIM:232400
HP:0003693	Distal amyotrophy	10273	STUB1	ORPHA:412057
HP:0003693	Distal amyotrophy	6389	SDHA	ORPHA:3208
HP:0003693	Distal amyotrophy	6390	SDHB	ORPHA:3208
HP:0003693	Distal amyotrophy	6392	SDHD	ORPHA:3208
HP:0003693	Distal amyotrophy	644096	SDHAF1	ORPHA:3208
HP:0003693	Distal amyotrophy	283	ANG	OMIM:611895
HP:0003693	Distal amyotrophy	283	ANG	ORPHA:803
HP:0003693	Distal amyotrophy	79784	MYH14	OMIM:614369
HP:0003693	Distal amyotrophy	23533	PIK3R5	OMIM:615217
HP:0003693	Distal amyotrophy	57731	SPTBN4	OMIM:617519
HP:0003693	Distal amyotrophy	25978	CHMP2B	ORPHA:803
HP:0003693	Distal amyotrophy	8148	TAF15	ORPHA:803
HP:0003693	Distal amyotrophy	5445	PON2	ORPHA:803
HP:0003693	Distal amyotrophy	8878	SQSTM1	ORPHA:803
HP:0003693	Distal amyotrophy	5630	PRPH	ORPHA:803
HP:0003693	Distal amyotrophy	29110	TBK1	ORPHA:803
HP:0003693	Distal amyotrophy	55830	GLT8D1	ORPHA:803
HP:0003693	Distal amyotrophy	755	CFAP410	ORPHA:803
HP:0003693	Distal amyotrophy	10891	PPARGC1A	ORPHA:803
HP:0003693	Distal amyotrophy	6647	SOD1	ORPHA:803
HP:0003693	Distal amyotrophy	10133	OPTN	ORPHA:803
HP:0003693	Distal amyotrophy	9896	FIG4	ORPHA:803
HP:0003693	Distal amyotrophy	5444	PON1	ORPHA:803
HP:0003693	Distal amyotrophy	5446	PON3	ORPHA:803
HP:0003693	Distal amyotrophy	4744	NEFH	ORPHA:803
HP:0003693	Distal amyotrophy	5216	PFN1	ORPHA:803
HP:0003693	Distal amyotrophy	9782	MATR3	ORPHA:803
HP:0003693	Distal amyotrophy	54209	TREM2	ORPHA:803
HP:0003693	Distal amyotrophy	23435	TARDBP	ORPHA:803
HP:0003693	Distal amyotrophy	29978	UBQLN2	ORPHA:803
HP:0003693	Distal amyotrophy	2733	GLE1	ORPHA:803
HP:0003693	Distal amyotrophy	4750	NEK1	ORPHA:803
HP:0003693	Distal amyotrophy	1610	DAO	ORPHA:803
HP:0003693	Distal amyotrophy	2066	ERBB4	ORPHA:803
HP:0003693	Distal amyotrophy	311	ANXA11	ORPHA:803
HP:0003693	Distal amyotrophy	23025	UNC13A	ORPHA:803
HP:0003693	Distal amyotrophy	899	CCNF	ORPHA:803
HP:0003693	Distal amyotrophy	400916	CHCHD10	ORPHA:803
HP:0003693	Distal amyotrophy	26353	HSPB8	OMIM:608673
HP:0003693	Distal amyotrophy	3098	HK1	ORPHA:99953
HP:0003693	Distal amyotrophy	8139	GAN	OMIM:256850
HP:0003693	Distal amyotrophy	79628	SH3TC2	OMIM:601596
HP:0003693	Distal amyotrophy	79628	SH3TC2	ORPHA:99949
HP:0003693	Distal amyotrophy	57716	PRX	OMIM:614895
HP:0003693	Distal amyotrophy	57716	PRX	OMIM:145900
HP:0003693	Distal amyotrophy	6310	ATXN1	OMIM:164400
HP:0003693	Distal amyotrophy	1785	DNM2	OMIM:606482
HP:0003693	Distal amyotrophy	285489	DOK7	OMIM:254300
HP:0003693	Distal amyotrophy	8729	GBF1	OMIM:606483
HP:0003693	Distal amyotrophy	59345	GNB4	OMIM:615185
HP:0003693	Distal amyotrophy	7143	TNR	OMIM:619653
HP:0003693	Distal amyotrophy	65250	CPLANE1	ORPHA:65684
HP:0003693	Distal amyotrophy	57562	CEP126	ORPHA:65684
HP:0003693	Distal amyotrophy	2705	GJB1	OMIM:302800
HP:0003693	Distal amyotrophy	2705	GJB1	ORPHA:101075
HP:0003693	Distal amyotrophy	2318	FLNC	OMIM:614065
HP:0003693	Distal amyotrophy	8988	HSPB3	OMIM:613376
HP:0003693	Distal amyotrophy	64423	INF2	OMIM:614455
HP:0003693	Distal amyotrophy	7453	WARS1	OMIM:617721
HP:0003693	Distal amyotrophy	9990	SLC12A6	OMIM:620068
HP:0003693	Distal amyotrophy	353116	RILPL1	ORPHA:98897
HP:0003693	Distal amyotrophy	10755	GIPC1	ORPHA:98897
HP:0003693	Distal amyotrophy	8884	SLC5A6	OMIM:619903
HP:0003693	Distal amyotrophy	26092	TOR1AIP1	OMIM:617072
HP:0003693	Distal amyotrophy	7528	YY1	ORPHA:506358
HP:0003693	Distal amyotrophy	23299	BICD2	ORPHA:363454
HP:0003693	Distal amyotrophy	8450	CUL4B	OMIM:300354
HP:0003693	Distal amyotrophy	4099	MAG	OMIM:616680
HP:0003693	Distal amyotrophy	4099	MAG	ORPHA:459056
HP:0003693	Distal amyotrophy	3094	HINT1	ORPHA:324442
HP:0003693	Distal amyotrophy	4593	MUSK	OMIM:616325
HP:0003693	Distal amyotrophy	391356	PTRHD1	OMIM:620747
HP:0003693	Distal amyotrophy	5165	PDK3	OMIM:300905
HP:0003693	Distal amyotrophy	5165	PDK3	ORPHA:352675
HP:0003693	Distal amyotrophy	3315	HSPB1	OMIM:606595
HP:0003693	Distal amyotrophy	3315	HSPB1	ORPHA:99940
HP:0003693	Distal amyotrophy	10342	TFG	ORPHA:431329
HP:0003693	Distal amyotrophy	8242	KDM5C	OMIM:300534
HP:0003693	Distal amyotrophy	3300	DNAJB2	OMIM:614881
HP:0003693	Distal amyotrophy	7170	TPM3	OMIM:609284
HP:0003693	Distal amyotrophy	6709	SPTAN1	OMIM:620528
HP:0003693	Distal amyotrophy	4556	MT-TE	ORPHA:2596
HP:0003693	Distal amyotrophy	126129	CPT1C	ORPHA:444099
HP:0003693	Distal amyotrophy	3798	KIF5A	ORPHA:100991
HP:0003693	Distal amyotrophy	8557	TCAP	OMIM:601954
HP:0003693	Distal amyotrophy	1291	COL6A1	OMIM:158810
HP:0003693	Distal amyotrophy	16	AARS1	OMIM:613287
HP:0003693	Distal amyotrophy	9131	AIFM1	OMIM:310490
HP:0003693	Distal amyotrophy	2583	B4GALNT1	OMIM:609195
HP:0003693	Distal amyotrophy	3852	KRT5	ORPHA:79396
HP:0003693	Distal amyotrophy	3861	KRT14	ORPHA:79396
HP:0003693	Distal amyotrophy	121512	FGD4	OMIM:609311
HP:0003693	Distal amyotrophy	55768	NGLY1	OMIM:615273
HP:0003693	Distal amyotrophy	23321	TRIM2	OMIM:615490
HP:0003693	Distal amyotrophy	182	JAG1	OMIM:619574
HP:0003693	Distal amyotrophy	859	CAV3	OMIM:614321
HP:0003693	Distal amyotrophy	859	CAV3	ORPHA:488650
HP:0003693	Distal amyotrophy	374969	SVBP	OMIM:618569
HP:0003693	Distal amyotrophy	1678	TIMM8A	OMIM:304700
HP:0003693	Distal amyotrophy	55958	KLHL9	ORPHA:399081
HP:0003693	Distal amyotrophy	11155	LDB3	ORPHA:98912
HP:0003693	Distal amyotrophy	427	ASAH1	OMIM:159950
HP:0003693	Distal amyotrophy	1134	CHRNA1	OMIM:601462
HP:0003693	Distal amyotrophy	284058	KANSL1	ORPHA:363965
HP:0003693	Distal amyotrophy	284058	KANSL1	ORPHA:363958
HP:0003693	Distal amyotrophy	58	ACTA1	OMIM:616852
HP:0003693	Distal amyotrophy	170689	ADAMTS15	OMIM:620545
HP:0003693	Distal amyotrophy	113278	SLC52A3	OMIM:211530
HP:0003693	Distal amyotrophy	2395	FXN	ORPHA:95
HP:0003693	Distal amyotrophy	6261	RYR1	ORPHA:98905
HP:0003693	Distal amyotrophy	7273	TTN	OMIM:600334
HP:0003693	Distal amyotrophy	4625	MYH7	OMIM:160500
HP:0002135	Basal ganglia calcification	2074	ERCC6	OMIM:214150
HP:0002135	Basal ganglia calcification	2074	ERCC6	OMIM:133540
HP:0002135	Basal ganglia calcification	2074	ERCC6	ORPHA:90324
HP:0002135	Basal ganglia calcification	2074	ERCC6	ORPHA:90321
HP:0002135	Basal ganglia calcification	2074	ERCC6	OMIM:278800
HP:0002135	Basal ganglia calcification	4558	MT-TF	ORPHA:550
HP:0002135	Basal ganglia calcification	4572	MT-TQ	ORPHA:550
HP:0002135	Basal ganglia calcification	4512	MT-CO1	ORPHA:550
HP:0002135	Basal ganglia calcification	4513	MT-CO2	ORPHA:550
HP:0002135	Basal ganglia calcification	4514	MT-CO3	ORPHA:550
HP:0002135	Basal ganglia calcification	4578	MT-TW	ORPHA:550
HP:0002135	Basal ganglia calcification	4540	MT-ND5	ORPHA:550
HP:0002135	Basal ganglia calcification	4541	MT-ND6	ORPHA:550
HP:0002135	Basal ganglia calcification	4535	MT-ND1	ORPHA:550
HP:0002135	Basal ganglia calcification	4538	MT-ND4	ORPHA:550
HP:0002135	Basal ganglia calcification	4567	MT-TL1	ORPHA:550
HP:0002135	Basal ganglia calcification	4574	MT-TS1	ORPHA:550
HP:0002135	Basal ganglia calcification	4575	MT-TS2	ORPHA:550
HP:0002135	Basal ganglia calcification	4564	MT-TH	ORPHA:550
HP:0002135	Basal ganglia calcification	113612	CYP2U1	OMIM:615030
HP:0002135	Basal ganglia calcification	79621	RNASEH2B	OMIM:610181
HP:0002135	Basal ganglia calcification	58494	JAM2	OMIM:618824
HP:0002135	Basal ganglia calcification	1161	ERCC8	ORPHA:90324
HP:0002135	Basal ganglia calcification	1161	ERCC8	ORPHA:90321
HP:0002135	Basal ganglia calcification	1161	ERCC8	OMIM:216400
HP:0002135	Basal ganglia calcification	9636	ISG15	OMIM:616126
HP:0002135	Basal ganglia calcification	79903	NAA60	OMIM:620786
HP:0002135	Basal ganglia calcification	2072	ERCC4	ORPHA:90321
HP:0002135	Basal ganglia calcification	54209	TREM2	OMIM:618193
HP:0002135	Basal ganglia calcification	5932	RBBP8	OMIM:606744
HP:0002135	Basal ganglia calcification	100147744	RNU7-1	OMIM:619487
HP:0002135	Basal ganglia calcification	2767	GNA11	OMIM:615361
HP:0002135	Basal ganglia calcification	11277	TREX1	OMIM:225750
HP:0002135	Basal ganglia calcification	5155	PDGFB	OMIM:615483
HP:0002135	Basal ganglia calcification	5155	PDGFB	OMIM:213600
HP:0002135	Basal ganglia calcification	134353	LSM11	OMIM:619486
HP:0002135	Basal ganglia calcification	9213	XPR1	OMIM:616413
HP:0002135	Basal ganglia calcification	2625	GATA3	OMIM:146255
HP:0002135	Basal ganglia calcification	64135	IFIH1	OMIM:615846
HP:0002135	Basal ganglia calcification	5159	PDGFRB	OMIM:615007
HP:0002135	Basal ganglia calcification	5159	PDGFRB	OMIM:213600
HP:0002135	Basal ganglia calcification	57462	MYORG	OMIM:618317
HP:0002135	Basal ganglia calcification	5698	PSMB9	OMIM:620796
HP:0002135	Basal ganglia calcification	760	CA2	OMIM:259730
HP:0002135	Basal ganglia calcification	760	CA2	ORPHA:2785
HP:0002135	Basal ganglia calcification	10059	DNM1L	ORPHA:98673
HP:0002135	Basal ganglia calcification	4976	OPA1	ORPHA:98673
HP:0002135	Basal ganglia calcification	90	ACVR1	OMIM:135100
HP:0002135	Basal ganglia calcification	2778	GNAS	OMIM:612462
HP:0002135	Basal ganglia calcification	2778	GNAS	ORPHA:79443
HP:0002135	Basal ganglia calcification	2778	GNAS	ORPHA:79444
HP:0002135	Basal ganglia calcification	2778	GNAS	OMIM:103580
HP:0002135	Basal ganglia calcification	727676	SNORD118	ORPHA:542310
HP:0002135	Basal ganglia calcification	91137	SLC25A46	OMIM:616505
HP:0002135	Basal ganglia calcification	6575	SLC20A2	OMIM:213600
HP:0002135	Basal ganglia calcification	63901	FAM111A	OMIM:127000
HP:0002135	Basal ganglia calcification	63901	FAM111A	ORPHA:93325
HP:0002135	Basal ganglia calcification	56984	PSMG2	OMIM:619183
HP:0002135	Basal ganglia calcification	846	CASR	OMIM:601198
HP:0002135	Basal ganglia calcification	23258	DENND5A	OMIM:617281
HP:0002135	Basal ganglia calcification	23404	EXOSC2	OMIM:617763
HP:0002135	Basal ganglia calcification	7305	TYROBP	OMIM:221770
HP:0002135	Basal ganglia calcification	2071	ERCC3	OMIM:610651
HP:0002135	Basal ganglia calcification	113235	SLC46A1	OMIM:229050
HP:0002135	Basal ganglia calcification	25939	SAMHD1	OMIM:612952
HP:0002135	Basal ganglia calcification	5696	PSMB8	OMIM:256040
HP:0002135	Basal ganglia calcification	2697	GJA1	OMIM:164200
HP:0002135	Basal ganglia calcification	8905	AP1S2	OMIM:304340
HP:0002135	Basal ganglia calcification	90952	ESAM	OMIM:620371
HP:0002486	Myotonia	487	ATP2A1	OMIM:601003
HP:0002486	Myotonia	5213	PFKM	ORPHA:371
HP:0002486	Myotonia	3094	HINT1	ORPHA:324442
HP:0002486	Myotonia	7345	UCHL1	OMIM:615491
HP:0002486	Myotonia	779	CACNA1S	OMIM:170400
HP:0002486	Myotonia	779	CACNA1S	ORPHA:79102
HP:0002486	Myotonia	779	CACNA1S	ORPHA:681
HP:0002486	Myotonia	6329	SCN4A	OMIM:170400
HP:0002486	Myotonia	6329	SCN4A	OMIM:170500
HP:0002486	Myotonia	6329	SCN4A	OMIM:608390
HP:0002486	Myotonia	6329	SCN4A	ORPHA:99735
HP:0002486	Myotonia	6329	SCN4A	ORPHA:99736
HP:0002486	Myotonia	6329	SCN4A	ORPHA:684
HP:0002486	Myotonia	6329	SCN4A	ORPHA:682
HP:0002486	Myotonia	6329	SCN4A	ORPHA:681
HP:0002486	Myotonia	6329	SCN4A	OMIM:613345
HP:0002486	Myotonia	203547	VMA21	OMIM:310440
HP:0002486	Myotonia	7555	CNBP	ORPHA:606
HP:0002486	Myotonia	7555	CNBP	OMIM:602668
HP:0002486	Myotonia	1180	CLCN1	OMIM:255700
HP:0002486	Myotonia	1180	CLCN1	ORPHA:614
HP:0002486	Myotonia	1180	CLCN1	OMIM:160800
HP:0002486	Myotonia	100134444	KCNJ18	ORPHA:79102
HP:0002486	Myotonia	2556	GABRA3	ORPHA:79102
HP:0002486	Myotonia	2273	FHL1	ORPHA:98863
HP:0002486	Myotonia	2010	EMD	ORPHA:98863
HP:0002486	Myotonia	773	CACNA1A	OMIM:108500
HP:0002486	Myotonia	3339	HSPG2	ORPHA:800
HP:0002486	Myotonia	9217	VAPB	ORPHA:209335
HP:0002486	Myotonia	10008	KCNE3	ORPHA:681
HP:0002486	Myotonia	1760	DMPK	ORPHA:589821
HP:0002486	Myotonia	1760	DMPK	OMIM:160900
HP:0002486	Myotonia	3977	LIFR	OMIM:601559
HP:0002486	Myotonia	4000	LMNA	OMIM:151660
HP:0002486	Myotonia	4000	LMNA	ORPHA:98855
HP:0002486	Myotonia	4000	LMNA	ORPHA:98853
HP:0002486	Myotonia	3736	KCNA1	ORPHA:37612
HP:0002486	Myotonia	79188	TMEM43	ORPHA:98853
HP:0002486	Myotonia	23345	SYNE1	ORPHA:98853
HP:0002486	Myotonia	23224	SYNE2	ORPHA:98853
HP:0002486	Myotonia	80185	TTI2	ORPHA:391307
HP:0002486	Myotonia	859	CAV3	OMIM:606072
HP:0002486	Myotonia	284119	CAVIN1	OMIM:613327
HP:0002486	Myotonia	6445	SGCG	ORPHA:353
HP:0002486	Myotonia	203859	ANO5	ORPHA:206549
HP:0002486	Myotonia	6840	SVIL	OMIM:619040
HP:0002486	Myotonia	10049	DNAJB6	ORPHA:34516
HP:0002486	Myotonia	1353	COX11	OMIM:620275
HP:0002486	Myotonia	58	ACTA1	ORPHA:97240
HP:0002486	Myotonia	5813	PURA	ORPHA:438216
HP:0002487	Hyperkinetic movements	55768	NGLY1	OMIM:615273
HP:0002487	Hyperkinetic movements	55768	NGLY1	ORPHA:404454
HP:0002487	Hyperkinetic movements	26235	FBXL4	OMIM:615471
HP:0002487	Hyperkinetic movements	2775	GNAO1	OMIM:617493
HP:0002487	Hyperkinetic movements	57187	THOC2	OMIM:300957
HP:0002487	Hyperkinetic movements	57187	THOC2	ORPHA:457240
HP:0002487	Hyperkinetic movements	60684	TRAPPC11	OMIM:615356
HP:0002487	Hyperkinetic movements	60684	TRAPPC11	ORPHA:369847
HP:0002487	Hyperkinetic movements	6531	SLC6A3	OMIM:613135
HP:0002487	Hyperkinetic movements	4762	NEUROG1	OMIM:620469
HP:0002487	Hyperkinetic movements	7701	ZNF142	OMIM:618425
HP:0002487	Hyperkinetic movements	6323	SCN1A	OMIM:619317
HP:0002487	Hyperkinetic movements	2643	GCH1	OMIM:233910
HP:0002487	Hyperkinetic movements	10846	PDE10A	OMIM:616921
HP:0002487	Hyperkinetic movements	25914	RTTN	ORPHA:468631
HP:0002487	Hyperkinetic movements	4552	MTRR	OMIM:236270
HP:0002487	Hyperkinetic movements	10479	SLC9A6	OMIM:300243
HP:0002487	Hyperkinetic movements	10479	SLC9A6	ORPHA:85278
HP:0002487	Hyperkinetic movements	2571	GAD1	OMIM:619124
HP:0002487	Hyperkinetic movements	6857	SYT1	ORPHA:522077
HP:0002487	Hyperkinetic movements	6857	SYT1	OMIM:618218
HP:0002487	Hyperkinetic movements	10730	YME1L1	OMIM:617302
HP:0002487	Hyperkinetic movements	5660	PSAP	OMIM:611721
HP:0002487	Hyperkinetic movements	29920	PYCR2	OMIM:616420
HP:0002487	Hyperkinetic movements	23732	FRRS1L	OMIM:616981
HP:0002487	Hyperkinetic movements	23732	FRRS1L	ORPHA:725
HP:0002487	Hyperkinetic movements	777	CACNA1E	OMIM:618285
HP:0002487	Hyperkinetic movements	816	CAMK2B	OMIM:617799
HP:0002487	Hyperkinetic movements	10352	WARS2	OMIM:619738
HP:0002487	Hyperkinetic movements	2903	GRIN2A	ORPHA:725
HP:0002487	Hyperkinetic movements	10020	GNE	ORPHA:3166
HP:0002487	Hyperkinetic movements	10295	BCKDK	OMIM:614923
HP:0002487	Hyperkinetic movements	3954	LETM1	OMIM:620089
HP:0002487	Hyperkinetic movements	5805	PTS	ORPHA:13
HP:0002487	Hyperkinetic movements	23096	IQSEC2	ORPHA:397933
HP:0002487	Hyperkinetic movements	774	CACNA1B	OMIM:618497
HP:0002487	Hyperkinetic movements	81570	CLPB	OMIM:616271
HP:0002487	Hyperkinetic movements	8802	SUCLG1	ORPHA:17
HP:0002487	Hyperkinetic movements	2902	GRIN1	OMIM:614254
HP:0002487	Hyperkinetic movements	8803	SUCLA2	OMIM:612073
HP:0002487	Hyperkinetic movements	4761	NEUROD2	OMIM:618374
HP:0002487	Hyperkinetic movements	23230	VPS13A	ORPHA:2388
HP:0002487	Hyperkinetic movements	6326	SCN2A	OMIM:613721
HP:0002487	Hyperkinetic movements	7915	ALDH5A1	OMIM:271980
HP:0002487	Hyperkinetic movements	112476	PRRT2	ORPHA:98810
HP:0002487	Hyperkinetic movements	25953	PNKD	ORPHA:98810
HP:0002487	Hyperkinetic movements	3028	HSD17B10	ORPHA:391428
HP:0002488	Acute leukemia	5566	PRKACA	ORPHA:289
HP:0002488	Acute leukemia	5567	PRKACB	ORPHA:289
HP:0002488	Acute leukemia	2735	GLI1	ORPHA:289
HP:0002488	Acute leukemia	2121	EVC	ORPHA:289
HP:0002488	Acute leukemia	51626	DYNC2LI1	ORPHA:289
HP:0002488	Acute leukemia	132884	EVC2	ORPHA:289
HP:0002488	Acute leukemia	546	ATRX	ORPHA:231401
HP:0002488	Acute leukemia	7157	TP53	OMIM:151623
HP:0002488	Acute leukemia	7157	TP53	ORPHA:3318
HP:0002488	Acute leukemia	10019	SH2B3	ORPHA:3318
HP:0002488	Acute leukemia	811	CALR	ORPHA:3318
HP:0002488	Acute leukemia	4352	MPL	ORPHA:3318
HP:0002488	Acute leukemia	3717	JAK2	ORPHA:3318
HP:0002488	Acute leukemia	3717	JAK2	ORPHA:729
HP:0002488	Acute leukemia	54790	TET2	ORPHA:3318
HP:0002488	Acute leukemia	412	STS	ORPHA:281090
HP:0002488	Acute leukemia	7454	WAS	ORPHA:906
HP:0002488	Acute leukemia	7456	WIPF1	ORPHA:906
HP:0002488	Acute leukemia	2624	GATA2	ORPHA:228423
HP:0002488	Acute leukemia	7518	XRCC4	ORPHA:99812
HP:0002488	Acute leukemia	3981	LIG4	ORPHA:99812
HP:0002488	Acute leukemia	7305	TYROBP	ORPHA:2770
HP:0002488	Acute leukemia	54209	TREM2	ORPHA:2770
HP:0002488	Acute leukemia	4683	NBN	ORPHA:647
HP:0002488	Acute leukemia	9487	PIGL	ORPHA:3474
HP:0002488	Acute leukemia	2672	GFI1	OMIM:607847
HP:0002488	Acute leukemia	2672	GFI1	ORPHA:486
HP:0002488	Acute leukemia	675	BRCA2	OMIM:605724
HP:0002488	Acute leukemia	675	BRCA2	OMIM:613029
HP:0002488	Acute leukemia	128	ADH5	OMIM:619151
HP:0002488	Acute leukemia	7066	THPO	ORPHA:71493
HP:0002488	Acute leukemia	26511	CHIC2	OMIM:601626
HP:0002488	Acute leukemia	4026	LPP	OMIM:601626
HP:0002488	Acute leukemia	8021	NUP214	OMIM:601626
HP:0002488	Acute leukemia	3845	KRAS	OMIM:601626
HP:0002488	Acute leukemia	3815	KIT	OMIM:601626
HP:0002488	Acute leukemia	3815	KIT	ORPHA:98849
HP:0002488	Acute leukemia	8301	PICALM	OMIM:601626
HP:0002488	Acute leukemia	1788	DNMT3A	OMIM:601626
HP:0002488	Acute leukemia	7015	TERT	OMIM:601626
HP:0002488	Acute leukemia	8028	MLLT10	OMIM:601626
HP:0002488	Acute leukemia	861	RUNX1	OMIM:601626
HP:0002488	Acute leukemia	861	RUNX1	OMIM:601399
HP:0002488	Acute leukemia	2322	FLT3	OMIM:601626
HP:0002488	Acute leukemia	1050	CEBPA	OMIM:601626
HP:0002488	Acute leukemia	2120	ETV6	OMIM:601626
HP:0002488	Acute leukemia	6455	SH3GL1	OMIM:601626
HP:0002488	Acute leukemia	4869	NPM1	OMIM:601626
HP:0002488	Acute leukemia	134218	DNAJC21	OMIM:617052
HP:0002488	Acute leukemia	134218	DNAJC21	OMIM:260400
HP:0002488	Acute leukemia	134218	DNAJC21	ORPHA:811
HP:0002488	Acute leukemia	6208	RPS14	ORPHA:86841
HP:0002488	Acute leukemia	8930	MBD4	OMIM:619975
HP:0002488	Acute leukemia	219285	SAMD9L	OMIM:252270
HP:0002488	Acute leukemia	171023	ASXL1	ORPHA:98849
HP:0002488	Acute leukemia	6427	SRSF2	ORPHA:98849
HP:0002488	Acute leukemia	4210	MEFV	ORPHA:3243
HP:0002488	Acute leukemia	5777	PTPN6	ORPHA:3243
HP:0002488	Acute leukemia	1736	DKC1	OMIM:305000
HP:0002488	Acute leukemia	2065	ERBB3	OMIM:133180
HP:0002488	Acute leukemia	23451	SF3B1	ORPHA:75564
HP:0002488	Acute leukemia	1029	CDKN2A	ORPHA:524
HP:0002488	Acute leukemia	4193	MDM2	ORPHA:524
HP:0002488	Acute leukemia	11200	CHEK2	ORPHA:524
HP:0002488	Acute leukemia	10312	TCIRG1	ORPHA:486
HP:0002488	Acute leukemia	6728	SRP19	ORPHA:486
HP:0002488	Acute leukemia	1991	ELANE	ORPHA:486
HP:0002488	Acute leukemia	81570	CLPB	ORPHA:486
HP:0002488	Acute leukemia	641	BLM	ORPHA:125
HP:0002488	Acute leukemia	54809	SAMD9	OMIM:619041
HP:0002488	Acute leukemia	6138	RPL15	ORPHA:124
HP:0002488	Acute leukemia	6224	RPS20	ORPHA:124
HP:0002488	Acute leukemia	6165	RPL35A	ORPHA:124
HP:0002488	Acute leukemia	6132	RPL8	ORPHA:124
HP:0002488	Acute leukemia	6223	RPS19	ORPHA:124
HP:0002488	Acute leukemia	6232	RPS27	ORPHA:124
HP:0002488	Acute leukemia	55027	HEATR3	ORPHA:124
HP:0002488	Acute leukemia	6160	RPL31	ORPHA:124
HP:0002488	Acute leukemia	6201	RPS7	ORPHA:124
HP:0002488	Acute leukemia	6155	RPL27	ORPHA:124
HP:0002488	Acute leukemia	6234	RPS28	ORPHA:124
HP:0002488	Acute leukemia	6135	RPL11	ORPHA:124
HP:0002488	Acute leukemia	6229	RPS24	ORPHA:124
HP:0002488	Acute leukemia	6125	RPL5	ORPHA:124
HP:0002488	Acute leukemia	6204	RPS10	ORPHA:124
HP:0002488	Acute leukemia	2623	GATA1	ORPHA:124
HP:0002488	Acute leukemia	6133	RPL9	ORPHA:124
HP:0002488	Acute leukemia	6231	RPS26	ORPHA:124
HP:0002488	Acute leukemia	11224	RPL35	ORPHA:124
HP:0002488	Acute leukemia	6218	RPS17	ORPHA:124
HP:0002488	Acute leukemia	6154	RPL26	ORPHA:124
HP:0002488	Acute leukemia	6210	RPS15A	ORPHA:124
HP:0002488	Acute leukemia	90121	TSR2	ORPHA:124
HP:0002488	Acute leukemia	6141	RPL18	ORPHA:124
HP:0002488	Acute leukemia	6235	RPS29	ORPHA:124
HP:0002488	Acute leukemia	51816	ADA2	ORPHA:124
HP:0002488	Acute leukemia	6729	SRP54	OMIM:260400
HP:0002488	Acute leukemia	51119	SBDS	OMIM:260400
HP:0002488	Acute leukemia	51119	SBDS	ORPHA:811
HP:0002488	Acute leukemia	51428	DDX41	OMIM:616871
HP:0002488	Acute leukemia	29089	UBE2T	OMIM:616435
HP:0002488	Acute leukemia	79728	PALB2	OMIM:610832
HP:0002488	Acute leukemia	79631	EFL1	ORPHA:811
HP:0002488	Acute leukemia	6929	TCF3	OMIM:619824
HP:0002488	Acute leukemia	3417	IDH1	ORPHA:99646
HP:0002488	Acute leukemia	5914	RARA	OMIM:612376
HP:0002488	Acute leukemia	6609	SMPD1	ORPHA:77293
HP:0002488	Acute leukemia	161742	SPRED1	ORPHA:137605
HP:0002488	Acute leukemia	25	ABL1	OMIM:608232
HP:0002488	Acute leukemia	54888	NSUN2	ORPHA:235
HP:0002488	Acute leukemia	9184	BUB3	ORPHA:1052
HP:0002488	Acute leukemia	699	BUB1	ORPHA:1052
HP:0002488	Acute leukemia	9702	CEP57	ORPHA:1052
HP:0002488	Acute leukemia	9319	TRIP13	ORPHA:1052
HP:0002488	Acute leukemia	701	BUB1B	ORPHA:1052
HP:0002488	Acute leukemia	2782	GNB1	OMIM:613065
HP:0002488	Acute leukemia	6886	TAL1	OMIM:613065
HP:0002488	Acute leukemia	6887	TAL2	OMIM:613065
HP:0002488	Acute leukemia	581	BAX	OMIM:613065
HP:0002488	Acute leukemia	613	BCR	OMIM:613065
HP:0002488	Acute leukemia	10320	IKZF1	OMIM:616873
HP:0002488	Acute leukemia	472	ATM	OMIM:208900
HP:0002488	Acute leukemia	8216	LZTR1	OMIM:605275
HP:0002488	Acute leukemia	10456	HAX1	OMIM:610738
HP:0002488	Acute leukemia	64324	NSD1	ORPHA:821
HP:0002488	Acute leukemia	10297	APC2	ORPHA:821
HP:0002488	Acute leukemia	4436	MSH2	OMIM:619096
HP:0002488	Acute leukemia	1854	DUT	OMIM:620044
HP:0020062	Decreased hemoglobin concentration	10661	KLF1	OMIM:613673
HP:0020062	Decreased hemoglobin concentration	5313	PKLR	OMIM:266200
HP:0020062	Decreased hemoglobin concentration	5230	PGK1	ORPHA:713
HP:0020062	Decreased hemoglobin concentration	8567	MADD	OMIM:619004
HP:0020062	Decreased hemoglobin concentration	8567	MADD	OMIM:619005
HP:0020061	Abnormal hemoglobin concentration	669	BPGM	OMIM:222800
HP:0020061	Abnormal hemoglobin concentration	10019	SH2B3	OMIM:133100
HP:0020061	Abnormal hemoglobin concentration	3717	JAK2	OMIM:133100
HP:0020061	Abnormal hemoglobin concentration	3717	JAK2	OMIM:263300
HP:0020061	Abnormal hemoglobin concentration	2057	EPOR	OMIM:133100
HP:0020061	Abnormal hemoglobin concentration	2034	EPAS1	OMIM:611783
HP:0020061	Abnormal hemoglobin concentration	2056	EPO	OMIM:617907
HP:0020061	Abnormal hemoglobin concentration	7428	VHL	OMIM:263400
HP:0020061	Abnormal hemoglobin concentration	54583	EGLN1	OMIM:609820
HP:0020061	Abnormal hemoglobin concentration	6521	SLC4A1	ORPHA:3202
HP:0020061	Abnormal hemoglobin concentration	9780	PIEZO1	ORPHA:3202
HP:0020061	Abnormal hemoglobin concentration	3783	KCNN4	ORPHA:3202
HP:0020061	Abnormal hemoglobin concentration	3040	HBA2	OMIM:617981
HP:0020061	Abnormal hemoglobin concentration	3039	HBA1	OMIM:617981
HP:0020061	Abnormal hemoglobin concentration	3043	HBB	OMIM:617980
HP:0020061	Abnormal hemoglobin concentration	8029	CUBN	ORPHA:35858
HP:0020061	Abnormal hemoglobin concentration	81693	AMN	ORPHA:35858
HP:0020061	Abnormal hemoglobin concentration	10661	KLF1	OMIM:613673
HP:0020061	Abnormal hemoglobin concentration	5313	PKLR	OMIM:266200
HP:0020061	Abnormal hemoglobin concentration	5230	PGK1	ORPHA:713
HP:0020061	Abnormal hemoglobin concentration	8567	MADD	OMIM:619004
HP:0020061	Abnormal hemoglobin concentration	8567	MADD	OMIM:619005
HP:0020064	Abnormal eosinophil count	355	FAS	ORPHA:3261
HP:0020064	Abnormal eosinophil count	355	FAS	OMIM:601859
HP:0020064	Abnormal eosinophil count	356	FASLG	ORPHA:3261
HP:0020064	Abnormal eosinophil count	356	FASLG	OMIM:601859
HP:0020064	Abnormal eosinophil count	843	CASP10	ORPHA:3261
HP:0020064	Abnormal eosinophil count	843	CASP10	OMIM:603909
HP:0020064	Abnormal eosinophil count	7454	WAS	OMIM:301000
HP:0020064	Abnormal eosinophil count	30009	TBX21	OMIM:619630
HP:0020064	Abnormal eosinophil count	5159	PDGFRB	OMIM:131440
HP:0020064	Abnormal eosinophil count	6774	STAT3	OMIM:615952
HP:0020064	Abnormal eosinophil count	6774	STAT3	OMIM:147060
HP:0020064	Abnormal eosinophil count	6774	STAT3	ORPHA:2314
HP:0020064	Abnormal eosinophil count	5238	PGM3	ORPHA:443811
HP:0020064	Abnormal eosinophil count	5238	PGM3	OMIM:615816
HP:0020064	Abnormal eosinophil count	171023	ASXL1	ORPHA:98849
HP:0020064	Abnormal eosinophil count	54790	TET2	ORPHA:98849
HP:0020064	Abnormal eosinophil count	3815	KIT	ORPHA:98849
HP:0020064	Abnormal eosinophil count	6427	SRSF2	ORPHA:98849
HP:0020064	Abnormal eosinophil count	100151683	RNU4ATAC	ORPHA:353298
HP:0020064	Abnormal eosinophil count	100151683	RNU4ATAC	OMIM:616651
HP:0020064	Abnormal eosinophil count	5156	PDGFRA	OMIM:607685
HP:0020064	Abnormal eosinophil count	6023	RMRP	ORPHA:39041
HP:0020064	Abnormal eosinophil count	55636	CHD7	ORPHA:39041
HP:0020064	Abnormal eosinophil count	3981	LIG4	ORPHA:39041
HP:0020064	Abnormal eosinophil count	5896	RAG1	ORPHA:39041
HP:0020064	Abnormal eosinophil count	5896	RAG1	OMIM:603554
HP:0020064	Abnormal eosinophil count	5896	RAG1	ORPHA:331206
HP:0020064	Abnormal eosinophil count	5897	RAG2	ORPHA:39041
HP:0020064	Abnormal eosinophil count	5897	RAG2	OMIM:603554
HP:0020064	Abnormal eosinophil count	5897	RAG2	ORPHA:331206
HP:0020064	Abnormal eosinophil count	64421	DCLRE1C	ORPHA:39041
HP:0020064	Abnormal eosinophil count	64421	DCLRE1C	OMIM:603554
HP:0020064	Abnormal eosinophil count	64421	DCLRE1C	OMIM:602450
HP:0020064	Abnormal eosinophil count	100	ADA	ORPHA:39041
HP:0020064	Abnormal eosinophil count	100	ADA	OMIM:102700
HP:0020064	Abnormal eosinophil count	3575	IL7R	ORPHA:39041
HP:0020064	Abnormal eosinophil count	3575	IL7R	ORPHA:169154
HP:0020064	Abnormal eosinophil count	3561	IL2RG	ORPHA:39041
HP:0020064	Abnormal eosinophil count	50943	FOXP3	OMIM:304790
HP:0020064	Abnormal eosinophil count	825	CAPN3	OMIM:253600
HP:0020064	Abnormal eosinophil count	113235	SLC46A1	ORPHA:90045
HP:0020064	Abnormal eosinophil count	1041	CDSN	OMIM:270300
HP:0020064	Abnormal eosinophil count	8517	IKBKG	ORPHA:464
HP:0020064	Abnormal eosinophil count	8517	IKBKG	OMIM:308300
HP:0020064	Abnormal eosinophil count	6720	SREBF1	OMIM:158310
HP:0020064	Abnormal eosinophil count	2137	EXTL3	OMIM:617425
HP:0020064	Abnormal eosinophil count	3716	JAK1	OMIM:618999
HP:0020064	Abnormal eosinophil count	5294	PIK3CG	OMIM:619802
HP:0020064	Abnormal eosinophil count	114548	NLRP3	OMIM:607115
HP:0020064	Abnormal eosinophil count	84905	ZNF341	OMIM:618282
HP:0020064	Abnormal eosinophil count	915	CD3D	ORPHA:169160
HP:0020064	Abnormal eosinophil count	916	CD3E	ORPHA:169160
HP:0020064	Abnormal eosinophil count	919	CD247	ORPHA:169160
HP:0020064	Abnormal eosinophil count	919	CD247	OMIM:610163
HP:0020064	Abnormal eosinophil count	10999	SLC27A4	ORPHA:88621
HP:0020064	Abnormal eosinophil count	3394	IRF8	OMIM:226990
HP:0020064	Abnormal eosinophil count	64919	BCL11B	OMIM:617237
HP:0020064	Abnormal eosinophil count	64919	BCL11B	OMIM:618092
HP:0020064	Abnormal eosinophil count	3572	IL6ST	OMIM:618523
HP:0020064	Abnormal eosinophil count	84433	CARD11	OMIM:617638
HP:0020064	Abnormal eosinophil count	9939	RBM8A	OMIM:274000
HP:0020064	Abnormal eosinophil count	10312	TCIRG1	ORPHA:486
HP:0020064	Abnormal eosinophil count	6728	SRP19	ORPHA:486
HP:0020064	Abnormal eosinophil count	1991	ELANE	ORPHA:486
HP:0020064	Abnormal eosinophil count	1991	ELANE	OMIM:202700
HP:0020064	Abnormal eosinophil count	2672	GFI1	ORPHA:486
HP:0020064	Abnormal eosinophil count	81570	CLPB	ORPHA:486
HP:0020064	Abnormal eosinophil count	81704	DOCK8	OMIM:243700
HP:0020064	Abnormal eosinophil count	5699	PSMB10	OMIM:620807
HP:0020064	Abnormal eosinophil count	7535	ZAP70	ORPHA:911
HP:0020064	Abnormal eosinophil count	6778	STAT6	OMIM:620532
HP:0020064	Abnormal eosinophil count	56244	BTNL2	ORPHA:797
HP:0020064	Abnormal eosinophil count	3123	HLA-DRB1	ORPHA:797
HP:0020064	Abnormal eosinophil count	84196	USP48	ORPHA:96253
HP:0020064	Abnormal eosinophil count	7157	TP53	ORPHA:96253
HP:0020064	Abnormal eosinophil count	9101	USP8	ORPHA:96253
HP:0020064	Abnormal eosinophil count	64072	CDH23	ORPHA:96253
HP:0020064	Abnormal eosinophil count	2908	NR3C1	ORPHA:96253
HP:0020064	Abnormal eosinophil count	673	BRAF	ORPHA:96253
HP:0020064	Abnormal eosinophil count	546	ATRX	ORPHA:96253
HP:0020064	Abnormal eosinophil count	29775	CARD10	OMIM:619632
HP:0020064	Abnormal eosinophil count	11005	SPINK5	OMIM:256500
HP:0020064	Abnormal eosinophil count	64170	CARD9	OMIM:212050
HP:0020064	Abnormal eosinophil count	10526	IPO8	OMIM:619472
HP:0020064	Abnormal eosinophil count	28755	TRAC	OMIM:615387
HP:0020064	Abnormal eosinophil count	22861	NLRP1	OMIM:617388
HP:0001900	Increased circulating hemoglobin concentration	669	BPGM	OMIM:222800
HP:0001900	Increased circulating hemoglobin concentration	10019	SH2B3	OMIM:133100
HP:0001900	Increased circulating hemoglobin concentration	3717	JAK2	OMIM:133100
HP:0001900	Increased circulating hemoglobin concentration	3717	JAK2	OMIM:263300
HP:0001900	Increased circulating hemoglobin concentration	2057	EPOR	OMIM:133100
HP:0001900	Increased circulating hemoglobin concentration	2034	EPAS1	OMIM:611783
HP:0001900	Increased circulating hemoglobin concentration	2056	EPO	OMIM:617907
HP:0001900	Increased circulating hemoglobin concentration	7428	VHL	OMIM:263400
HP:0001900	Increased circulating hemoglobin concentration	54583	EGLN1	OMIM:609820
HP:0001900	Increased circulating hemoglobin concentration	6521	SLC4A1	ORPHA:3202
HP:0001900	Increased circulating hemoglobin concentration	9780	PIEZO1	ORPHA:3202
HP:0001900	Increased circulating hemoglobin concentration	3783	KCNN4	ORPHA:3202
HP:0001900	Increased circulating hemoglobin concentration	3040	HBA2	OMIM:617981
HP:0001900	Increased circulating hemoglobin concentration	3039	HBA1	OMIM:617981
HP:0001900	Increased circulating hemoglobin concentration	3043	HBB	OMIM:617980
HP:0002490	Increased CSF lactate	9131	AIFM1	ORPHA:238329
HP:0002490	Increased CSF lactate	9131	AIFM1	OMIM:300816
HP:0002490	Increased CSF lactate	4702	NDUFA8	OMIM:619272
HP:0002490	Increased CSF lactate	10128	LRPPRC	OMIM:220111
HP:0002490	Increased CSF lactate	10128	LRPPRC	ORPHA:70472
HP:0002490	Increased CSF lactate	4558	MT-TF	ORPHA:550
HP:0002490	Increased CSF lactate	4572	MT-TQ	ORPHA:550
HP:0002490	Increased CSF lactate	4512	MT-CO1	ORPHA:550
HP:0002490	Increased CSF lactate	4513	MT-CO2	ORPHA:550
HP:0002490	Increased CSF lactate	4514	MT-CO3	ORPHA:550
HP:0002490	Increased CSF lactate	4578	MT-TW	ORPHA:550
HP:0002490	Increased CSF lactate	4578	MT-TW	ORPHA:255210
HP:0002490	Increased CSF lactate	4540	MT-ND5	ORPHA:550
HP:0002490	Increased CSF lactate	4540	MT-ND5	ORPHA:255210
HP:0002490	Increased CSF lactate	4541	MT-ND6	ORPHA:550
HP:0002490	Increased CSF lactate	4541	MT-ND6	ORPHA:255210
HP:0002490	Increased CSF lactate	4535	MT-ND1	ORPHA:550
HP:0002490	Increased CSF lactate	4535	MT-ND1	ORPHA:2609
HP:0002490	Increased CSF lactate	4535	MT-ND1	ORPHA:255210
HP:0002490	Increased CSF lactate	4538	MT-ND4	ORPHA:550
HP:0002490	Increased CSF lactate	4538	MT-ND4	ORPHA:255210
HP:0002490	Increased CSF lactate	4567	MT-TL1	ORPHA:550
HP:0002490	Increased CSF lactate	4567	MT-TL1	ORPHA:255210
HP:0002490	Increased CSF lactate	4567	MT-TL1	ORPHA:324525
HP:0002490	Increased CSF lactate	4574	MT-TS1	ORPHA:550
HP:0002490	Increased CSF lactate	4574	MT-TS1	OMIM:220110
HP:0002490	Increased CSF lactate	4575	MT-TS2	ORPHA:550
HP:0002490	Increased CSF lactate	4564	MT-TH	ORPHA:550
HP:0002490	Increased CSF lactate	54539	NDUFB11	ORPHA:2609
HP:0002490	Increased CSF lactate	25915	NDUFAF3	ORPHA:2609
HP:0002490	Increased CSF lactate	25915	NDUFAF3	OMIM:618240
HP:0002490	Increased CSF lactate	51103	NDUFAF1	ORPHA:2609
HP:0002490	Increased CSF lactate	91942	NDUFAF2	ORPHA:2609
HP:0002490	Increased CSF lactate	91942	NDUFAF2	OMIM:618233
HP:0002490	Increased CSF lactate	51300	TIMMDC1	ORPHA:2609
HP:0002490	Increased CSF lactate	4716	NDUFB10	ORPHA:2609
HP:0002490	Increased CSF lactate	4723	NDUFV1	ORPHA:2609
HP:0002490	Increased CSF lactate	4723	NDUFV1	OMIM:618225
HP:0002490	Increased CSF lactate	55572	FOXRED1	ORPHA:2609
HP:0002490	Increased CSF lactate	284184	NDUFAF8	ORPHA:2609
HP:0002490	Increased CSF lactate	55863	TMEM126B	ORPHA:2609
HP:0002490	Increased CSF lactate	4537	MT-ND3	ORPHA:2609
HP:0002490	Increased CSF lactate	4537	MT-ND3	ORPHA:255210
HP:0002490	Increased CSF lactate	4729	NDUFV2	ORPHA:2609
HP:0002490	Increased CSF lactate	4694	NDUFA1	ORPHA:2609
HP:0002490	Increased CSF lactate	4720	NDUFS2	ORPHA:2609
HP:0002490	Increased CSF lactate	4724	NDUFS4	ORPHA:2609
HP:0002490	Increased CSF lactate	4724	NDUFS4	OMIM:252010
HP:0002490	Increased CSF lactate	4726	NDUFS6	ORPHA:2609
HP:0002490	Increased CSF lactate	4728	NDUFS8	ORPHA:2609
HP:0002490	Increased CSF lactate	4722	NDUFS3	ORPHA:2609
HP:0002490	Increased CSF lactate	4722	NDUFS3	OMIM:618230
HP:0002490	Increased CSF lactate	79133	NDUFAF5	ORPHA:2609
HP:0002490	Increased CSF lactate	79133	NDUFAF5	OMIM:618238
HP:0002490	Increased CSF lactate	126328	NDUFA11	ORPHA:2609
HP:0002490	Increased CSF lactate	4709	NDUFB3	ORPHA:2609
HP:0002490	Increased CSF lactate	80224	NUBPL	ORPHA:2609
HP:0002490	Increased CSF lactate	80224	NUBPL	OMIM:618242
HP:0002490	Increased CSF lactate	29078	NDUFAF4	ORPHA:2609
HP:0002490	Increased CSF lactate	374291	NDUFS7	ORPHA:2609
HP:0002490	Increased CSF lactate	4700	NDUFA6	ORPHA:2609
HP:0002490	Increased CSF lactate	4700	NDUFA6	OMIM:618253
HP:0002490	Increased CSF lactate	4536	MT-ND2	ORPHA:2609
HP:0002490	Increased CSF lactate	4536	MT-ND2	ORPHA:255210
HP:0002490	Increased CSF lactate	4719	NDUFS1	ORPHA:2609
HP:0002490	Increased CSF lactate	4719	NDUFS1	OMIM:618226
HP:0002490	Increased CSF lactate	4715	NDUFB9	ORPHA:2609
HP:0002490	Increased CSF lactate	57128	LYRM4	OMIM:615595
HP:0002490	Increased CSF lactate	4570	MT-TN	OMIM:220110
HP:0002490	Increased CSF lactate	6834	SURF1	OMIM:220110
HP:0002490	Increased CSF lactate	1317	SLC31A1	OMIM:620306
HP:0002490	Increased CSF lactate	10059	DNM1L	OMIM:614388
HP:0002490	Increased CSF lactate	6513	SLC2A1	OMIM:612126
HP:0002490	Increased CSF lactate	85476	GFM1	OMIM:609060
HP:0002490	Increased CSF lactate	84334	COA8	ORPHA:436271
HP:0002490	Increased CSF lactate	123263	MTFMT	OMIM:614947
HP:0002490	Increased CSF lactate	10667	FARS2	OMIM:614946
HP:0002490	Increased CSF lactate	8050	PDHX	ORPHA:255182
HP:0002490	Increased CSF lactate	4577	MT-TV	ORPHA:255210
HP:0002490	Increased CSF lactate	4508	MT-ATP6	ORPHA:255210
HP:0002490	Increased CSF lactate	4566	MT-TK	ORPHA:255210
HP:0002490	Increased CSF lactate	51112	TRAPPC12	ORPHA:500144
HP:0002490	Increased CSF lactate	65993	MRPS34	OMIM:617664
HP:0002490	Increased CSF lactate	5160	PDHA1	OMIM:312170
HP:0002490	Increased CSF lactate	5160	PDHA1	ORPHA:79243
HP:0002490	Increased CSF lactate	56997	COQ8A	ORPHA:139485
HP:0002490	Increased CSF lactate	56997	COQ8A	OMIM:612016
HP:0002490	Increased CSF lactate	1352	COX10	OMIM:619046
HP:0002490	Increased CSF lactate	54931	TRMT10C	OMIM:616974
HP:0002490	Increased CSF lactate	3145	HMBS	OMIM:620711
HP:0002490	Increased CSF lactate	51218	GLRX5	OMIM:616859
HP:0002490	Increased CSF lactate	1353	COX11	OMIM:620275
HP:0002490	Increased CSF lactate	4204	MECP2	ORPHA:778
HP:0002490	Increased CSF lactate	87178	PNPT1	ORPHA:319514
HP:0002490	Increased CSF lactate	87178	PNPT1	OMIM:614932
HP:0002490	Increased CSF lactate	1340	COX6B1	OMIM:619051
HP:0002490	Increased CSF lactate	84987	COX14	OMIM:619053
HP:0002490	Increased CSF lactate	55967	NDUFA12	OMIM:618244
HP:0002490	Increased CSF lactate	84340	GFM2	ORPHA:565624
HP:0002490	Increased CSF lactate	84340	GFM2	OMIM:618397
HP:0002490	Increased CSF lactate	1351	COX8A	OMIM:619059
HP:0002490	Increased CSF lactate	4358	MPV17	OMIM:618400
HP:0002490	Increased CSF lactate	4358	MPV17	OMIM:256810
HP:0002490	Increased CSF lactate	116228	COX20	OMIM:619054
HP:0002490	Increased CSF lactate	100131801	PET100	OMIM:619055
HP:0002490	Increased CSF lactate	4705	NDUFA10	OMIM:618243
HP:0002490	Increased CSF lactate	55157	DARS2	ORPHA:137898
HP:0002490	Increased CSF lactate	291	SLC25A4	OMIM:615418
HP:0002490	Increased CSF lactate	291	SLC25A4	OMIM:617184
HP:0002490	Increased CSF lactate	9361	LONP1	ORPHA:79243
HP:0002490	Increased CSF lactate	91647	ATPAF2	OMIM:604273
HP:0002490	Increased CSF lactate	8802	SUCLG1	OMIM:245400
HP:0002490	Increased CSF lactate	8802	SUCLG1	ORPHA:17
HP:0002490	Increased CSF lactate	100303755	PET117	OMIM:619063
HP:0002490	Increased CSF lactate	1327	COX4I1	OMIM:619060
HP:0002490	Increased CSF lactate	4697	NDUFA4	OMIM:619065
HP:0002490	Increased CSF lactate	4714	NDUFB8	OMIM:618252
HP:0002490	Increased CSF lactate	790955	UQCC3	OMIM:616111
HP:0002490	Increased CSF lactate	84300	UQCC2	OMIM:615824
HP:0002490	Increased CSF lactate	79731	NARS2	OMIM:616239
HP:0002490	Increased CSF lactate	27010	TPK1	OMIM:614458
HP:0002490	Increased CSF lactate	3028	HSD17B10	ORPHA:391428
HP:0002490	Increased CSF lactate	9997	SCO2	OMIM:604377
HP:0002490	Increased CSF lactate	64849	SLC13A3	OMIM:618384
HP:0002490	Increased CSF lactate	92609	TIMM50	OMIM:617698
HP:0002490	Increased CSF lactate	4191	MDH2	OMIM:617339
HP:0002490	Increased CSF lactate	90624	LYRM7	OMIM:615838
HP:0002490	Increased CSF lactate	8659	ALDH4A1	ORPHA:79101
HP:0002490	Increased CSF lactate	128240	NAXE	OMIM:617186
HP:0002490	Increased CSF lactate	25828	TXN2	ORPHA:478029
HP:0002490	Increased CSF lactate	25828	TXN2	OMIM:616811
HP:0002490	Increased CSF lactate	4976	OPA1	OMIM:616896
HP:0002490	Increased CSF lactate	539	ATP5PO	OMIM:620359
HP:0002490	Increased CSF lactate	57038	RARS2	OMIM:611523
HP:0002490	Increased CSF lactate	200205	IBA57	OMIM:615330
HP:0002490	Increased CSF lactate	60386	SLC25A19	OMIM:613710
HP:0002490	Increased CSF lactate	55005	RMND1	OMIM:614922
HP:0002490	Increased CSF lactate	64116	SLC39A8	ORPHA:468699
HP:0002490	Increased CSF lactate	27247	NFU1	OMIM:605711
HP:0002490	Increased CSF lactate	84842	HPDL	OMIM:619026
HP:0002490	Increased CSF lactate	81570	CLPB	OMIM:616271
HP:0002490	Increased CSF lactate	1892	ECHS1	OMIM:616277
HP:0002490	Increased CSF lactate	8803	SUCLA2	OMIM:612073
HP:0002490	Increased CSF lactate	133686	NADK2	OMIM:616034
HP:0002490	Increased CSF lactate	50484	RRM2B	OMIM:612075
HP:0002490	Increased CSF lactate	27429	HTRA2	OMIM:617248
HP:0002491	Spasticity of facial muscles	57679	ALS2	OMIM:205100
HP:0002491	Spasticity of facial muscles	57679	ALS2	OMIM:606353
HP:0002491	Spasticity of facial muscles	6329	SCN4A	ORPHA:99734
HP:0002492	Abnormal corticospinal tract morphology	6253	RTN2	ORPHA:100993
HP:0002492	Abnormal corticospinal tract morphology	51271	UBAP1	ORPHA:100993
HP:0002492	Abnormal corticospinal tract morphology	126129	CPT1C	ORPHA:444099
HP:0002492	Abnormal corticospinal tract morphology	9897	WASHC5	OMIM:603563
HP:0002492	Abnormal corticospinal tract morphology	9897	WASHC5	ORPHA:100989
HP:0002492	Abnormal corticospinal tract morphology	123606	NIPA1	OMIM:600363
HP:0002492	Abnormal corticospinal tract morphology	6687	SPG7	OMIM:607259
HP:0002492	Abnormal corticospinal tract morphology	3839	KPNA3	ORPHA:171612
HP:0002492	Abnormal corticospinal tract morphology	9197	SLC33A1	ORPHA:171863
HP:0002492	Abnormal corticospinal tract morphology	6683	SPAST	OMIM:182601
HP:0002492	Abnormal corticospinal tract morphology	51062	ATL1	OMIM:182600
HP:0002492	Abnormal corticospinal tract morphology	6647	SOD1	OMIM:105400
HP:0002492	Abnormal corticospinal tract morphology	5630	PRPH	OMIM:105400
HP:0002492	Abnormal corticospinal tract morphology	1639	DCTN1	OMIM:105400
HP:0002492	Abnormal corticospinal tract morphology	4744	NEFH	OMIM:105400
HP:0002492	Abnormal corticospinal tract morphology	5354	PLP1	OMIM:312920
HP:0002492	Abnormal corticospinal tract morphology	2521	FUS	ORPHA:275872
HP:0002492	Abnormal corticospinal tract morphology	8878	SQSTM1	ORPHA:275872
HP:0002492	Abnormal corticospinal tract morphology	7415	VCP	ORPHA:275872
HP:0002492	Abnormal corticospinal tract morphology	23435	TARDBP	ORPHA:275872
HP:0002492	Abnormal corticospinal tract morphology	29110	TBK1	ORPHA:275872
HP:0002492	Abnormal corticospinal tract morphology	400916	CHCHD10	ORPHA:275872
HP:0002492	Abnormal corticospinal tract morphology	80208	SPG11	OMIM:604360
HP:0002492	Abnormal corticospinal tract morphology	5888	RAD51	ORPHA:238722
HP:0002492	Abnormal corticospinal tract morphology	10126	DNAL4	ORPHA:238722
HP:0002492	Abnormal corticospinal tract morphology	9423	NTN1	ORPHA:238722
HP:0002492	Abnormal corticospinal tract morphology	1630	DCC	ORPHA:238722
HP:0002492	Abnormal corticospinal tract morphology	2581	GALC	ORPHA:206448
HP:0002492	Abnormal corticospinal tract morphology	57679	ALS2	OMIM:607225
HP:0002492	Abnormal corticospinal tract morphology	5162	PDHB	ORPHA:255138
HP:0002492	Abnormal corticospinal tract morphology	3897	L1CAM	OMIM:307000
HP:0002492	Abnormal corticospinal tract morphology	4508	MT-ATP6	ORPHA:644
HP:0002492	Abnormal corticospinal tract morphology	4508	MT-ATP6	OMIM:551500
HP:0002492	Abnormal corticospinal tract morphology	6804	STX1A	ORPHA:904
HP:0002492	Abnormal corticospinal tract morphology	7461	CLIP2	ORPHA:904
HP:0002492	Abnormal corticospinal tract morphology	84277	DNAJC30	ORPHA:904
HP:0002492	Abnormal corticospinal tract morphology	8468	FKBP6	ORPHA:904
HP:0002492	Abnormal corticospinal tract morphology	5982	RFC2	ORPHA:904
HP:0002492	Abnormal corticospinal tract morphology	2969	GTF2I	ORPHA:904
HP:0002492	Abnormal corticospinal tract morphology	3984	LIMK1	ORPHA:904
HP:0002492	Abnormal corticospinal tract morphology	9569	GTF2IRD1	ORPHA:904
HP:0002492	Abnormal corticospinal tract morphology	155382	VPS37D	ORPHA:904
HP:0002492	Abnormal corticospinal tract morphology	155368	METTL27	ORPHA:904
HP:0002492	Abnormal corticospinal tract morphology	114049	BUD23	ORPHA:904
HP:0002492	Abnormal corticospinal tract morphology	7458	EIF4H	ORPHA:904
HP:0002492	Abnormal corticospinal tract morphology	84163	GTF2IRD2	ORPHA:904
HP:0002492	Abnormal corticospinal tract morphology	26608	TBL2	ORPHA:904
HP:0002492	Abnormal corticospinal tract morphology	653361	NCF1	ORPHA:904
HP:0002492	Abnormal corticospinal tract morphology	135886	TMEM270	ORPHA:904
HP:0002492	Abnormal corticospinal tract morphology	9031	BAZ1B	ORPHA:904
HP:0002492	Abnormal corticospinal tract morphology	2006	ELN	ORPHA:904
HP:0002492	Abnormal corticospinal tract morphology	215	ABCD1	ORPHA:139399
HP:0002493	Upper motor neuron dysfunction	1718	DHCR24	OMIM:602398
HP:0002493	Upper motor neuron dysfunction	1718	DHCR24	ORPHA:35107
HP:0002493	Upper motor neuron dysfunction	10749	KIF1C	ORPHA:397946
HP:0002493	Upper motor neuron dysfunction	10749	KIF1C	OMIM:611302
HP:0002493	Upper motor neuron dysfunction	55703	POLR3B	OMIM:614381
HP:0002493	Upper motor neuron dysfunction	55703	POLR3B	OMIM:619742
HP:0002493	Upper motor neuron dysfunction	55703	POLR3B	OMIM:607694
HP:0002493	Upper motor neuron dysfunction	23141	ANKLE2	OMIM:616681
HP:0002493	Upper motor neuron dysfunction	4099	MAG	OMIM:616680
HP:0002493	Upper motor neuron dysfunction	4099	MAG	ORPHA:459056
HP:0002493	Upper motor neuron dysfunction	10159	ATP6AP2	OMIM:300911
HP:0002493	Upper motor neuron dysfunction	10159	ATP6AP2	OMIM:300423
HP:0002493	Upper motor neuron dysfunction	10159	ATP6AP2	ORPHA:363654
HP:0002493	Upper motor neuron dysfunction	8367	H4C5	OMIM:619950
HP:0002493	Upper motor neuron dysfunction	104	ADARB1	OMIM:618862
HP:0002493	Upper motor neuron dysfunction	23019	CNOT1	OMIM:618500
HP:0002493	Upper motor neuron dysfunction	776	CACNA1D	OMIM:615474
HP:0002493	Upper motor neuron dysfunction	9853	RUSC2	OMIM:617773
HP:0002493	Upper motor neuron dysfunction	55823	VPS11	OMIM:616683
HP:0002493	Upper motor neuron dysfunction	55823	VPS11	ORPHA:466934
HP:0002493	Upper motor neuron dysfunction	4750	NEK1	OMIM:617892
HP:0002493	Upper motor neuron dysfunction	4750	NEK1	ORPHA:803
HP:0002493	Upper motor neuron dysfunction	51569	UFM1	OMIM:617899
HP:0002493	Upper motor neuron dysfunction	6873	TAF2	OMIM:615599
HP:0002493	Upper motor neuron dysfunction	6873	TAF2	ORPHA:397951
HP:0002493	Upper motor neuron dysfunction	7360	UGP2	OMIM:618744
HP:0002493	Upper motor neuron dysfunction	81857	MED25	OMIM:616449
HP:0002493	Upper motor neuron dysfunction	81857	MED25	ORPHA:464738
HP:0002493	Upper motor neuron dysfunction	1786	DNMT1	ORPHA:314404
HP:0002493	Upper motor neuron dysfunction	1786	DNMT1	OMIM:604121
HP:0002493	Upper motor neuron dysfunction	84942	WDR73	OMIM:251300
HP:0002493	Upper motor neuron dysfunction	84942	WDR73	ORPHA:83472
HP:0002493	Upper motor neuron dysfunction	57679	ALS2	ORPHA:247604
HP:0002493	Upper motor neuron dysfunction	57679	ALS2	OMIM:205100
HP:0002493	Upper motor neuron dysfunction	57679	ALS2	ORPHA:293168
HP:0002493	Upper motor neuron dysfunction	11160	ERLIN2	ORPHA:247604
HP:0002493	Upper motor neuron dysfunction	11160	ERLIN2	ORPHA:209951
HP:0002493	Upper motor neuron dysfunction	10084	PQBP1	ORPHA:93950
HP:0002493	Upper motor neuron dysfunction	10084	PQBP1	ORPHA:93947
HP:0002493	Upper motor neuron dysfunction	10084	PQBP1	OMIM:309500
HP:0002493	Upper motor neuron dysfunction	5354	PLP1	ORPHA:99015
HP:0002493	Upper motor neuron dysfunction	5354	PLP1	ORPHA:280219
HP:0002493	Upper motor neuron dysfunction	4535	MT-ND1	ORPHA:255210
HP:0002493	Upper motor neuron dysfunction	4536	MT-ND2	ORPHA:255210
HP:0002493	Upper motor neuron dysfunction	4537	MT-ND3	ORPHA:255210
HP:0002493	Upper motor neuron dysfunction	4538	MT-ND4	ORPHA:255210
HP:0002493	Upper motor neuron dysfunction	4567	MT-TL1	ORPHA:255210
HP:0002493	Upper motor neuron dysfunction	4567	MT-TL1	OMIM:545000
HP:0002493	Upper motor neuron dysfunction	4578	MT-TW	ORPHA:255210
HP:0002493	Upper motor neuron dysfunction	4577	MT-TV	ORPHA:255210
HP:0002493	Upper motor neuron dysfunction	4508	MT-ATP6	ORPHA:255210
HP:0002493	Upper motor neuron dysfunction	4508	MT-ATP6	ORPHA:225154
HP:0002493	Upper motor neuron dysfunction	4540	MT-ND5	ORPHA:255210
HP:0002493	Upper motor neuron dysfunction	4541	MT-ND6	ORPHA:255210
HP:0002493	Upper motor neuron dysfunction	4566	MT-TK	ORPHA:255210
HP:0002493	Upper motor neuron dysfunction	4566	MT-TK	OMIM:545000
HP:0002493	Upper motor neuron dysfunction	3020	H3-3A	OMIM:619720
HP:0002493	Upper motor neuron dysfunction	65993	MRPS34	OMIM:617664
HP:0002493	Upper motor neuron dysfunction	10300	KATNB1	OMIM:616212
HP:0002493	Upper motor neuron dysfunction	51741	WWOX	OMIM:616211
HP:0002493	Upper motor neuron dysfunction	51741	WWOX	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	51741	WWOX	OMIM:614322
HP:0002493	Upper motor neuron dysfunction	1841	DTYMK	OMIM:619847
HP:0002493	Upper motor neuron dysfunction	2670	GFAP	OMIM:203450
HP:0002493	Upper motor neuron dysfunction	2670	GFAP	ORPHA:363722
HP:0002493	Upper motor neuron dysfunction	2670	GFAP	ORPHA:363717
HP:0002493	Upper motor neuron dysfunction	166378	AFG2A	OMIM:616577
HP:0002493	Upper motor neuron dysfunction	166378	AFG2A	ORPHA:457351
HP:0002493	Upper motor neuron dysfunction	16	AARS1	OMIM:616339
HP:0002493	Upper motor neuron dysfunction	16	AARS1	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	16	AARS1	ORPHA:33364
HP:0002493	Upper motor neuron dysfunction	16	AARS1	OMIM:619691
HP:0002493	Upper motor neuron dysfunction	5610	EIF2AK2	OMIM:618877
HP:0002493	Upper motor neuron dysfunction	5610	EIF2AK2	OMIM:619687
HP:0002493	Upper motor neuron dysfunction	10381	TUBB3	OMIM:614039
HP:0002493	Upper motor neuron dysfunction	10381	TUBB3	ORPHA:300570
HP:0002493	Upper motor neuron dysfunction	57231	SNX14	ORPHA:397709
HP:0002493	Upper motor neuron dysfunction	57231	SNX14	OMIM:616354
HP:0002493	Upper motor neuron dysfunction	410	ARSA	ORPHA:309271
HP:0002493	Upper motor neuron dysfunction	410	ARSA	ORPHA:309263
HP:0002493	Upper motor neuron dysfunction	410	ARSA	ORPHA:309256
HP:0002493	Upper motor neuron dysfunction	5660	PSAP	ORPHA:309271
HP:0002493	Upper motor neuron dysfunction	5660	PSAP	ORPHA:309263
HP:0002493	Upper motor neuron dysfunction	5660	PSAP	ORPHA:309256
HP:0002493	Upper motor neuron dysfunction	5660	PSAP	ORPHA:206436
HP:0002493	Upper motor neuron dysfunction	54	ACP5	OMIM:607944
HP:0002493	Upper motor neuron dysfunction	54	ACP5	ORPHA:1855
HP:0002493	Upper motor neuron dysfunction	288	ANK3	OMIM:615493
HP:0002493	Upper motor neuron dysfunction	288	ANK3	ORPHA:356996
HP:0002493	Upper motor neuron dysfunction	215	ABCD1	ORPHA:139399
HP:0002493	Upper motor neuron dysfunction	7343	UBTF	OMIM:617672
HP:0002493	Upper motor neuron dysfunction	7343	UBTF	ORPHA:500180
HP:0002493	Upper motor neuron dysfunction	79029	AFG2B	OMIM:619616
HP:0002493	Upper motor neuron dysfunction	64834	ELOVL1	OMIM:618527
HP:0002493	Upper motor neuron dysfunction	10111	RAD50	OMIM:613078
HP:0002493	Upper motor neuron dysfunction	51308	REEP2	OMIM:620606
HP:0002493	Upper motor neuron dysfunction	51308	REEP2	OMIM:615625
HP:0002493	Upper motor neuron dysfunction	3064	HTT	OMIM:617435
HP:0002493	Upper motor neuron dysfunction	55681	SCYL2	OMIM:618766
HP:0002493	Upper motor neuron dysfunction	8560	DEGS1	OMIM:618404
HP:0002493	Upper motor neuron dysfunction	2074	ERCC6	OMIM:278800
HP:0002493	Upper motor neuron dysfunction	10939	AFG3L2	ORPHA:313772
HP:0002493	Upper motor neuron dysfunction	10939	AFG3L2	ORPHA:101109
HP:0002493	Upper motor neuron dysfunction	10939	AFG3L2	OMIM:610246
HP:0002493	Upper motor neuron dysfunction	10939	AFG3L2	OMIM:614487
HP:0002493	Upper motor neuron dysfunction	5191	PEX7	OMIM:215100
HP:0002493	Upper motor neuron dysfunction	2697	GJA1	ORPHA:2710
HP:0002493	Upper motor neuron dysfunction	2697	GJA1	OMIM:164200
HP:0002493	Upper motor neuron dysfunction	84504	NKX6-2	OMIM:617560
HP:0002493	Upper motor neuron dysfunction	283987	HID1	OMIM:619983
HP:0002493	Upper motor neuron dysfunction	4565	MT-TI	OMIM:545000
HP:0002493	Upper motor neuron dysfunction	4571	MT-TP	OMIM:545000
HP:0002493	Upper motor neuron dysfunction	4558	MT-TF	OMIM:545000
HP:0002493	Upper motor neuron dysfunction	25930	PTPN23	OMIM:618890
HP:0002493	Upper motor neuron dysfunction	83636	C19orf12	OMIM:614298
HP:0002493	Upper motor neuron dysfunction	83636	C19orf12	OMIM:615043
HP:0002493	Upper motor neuron dysfunction	5833	PCYT2	OMIM:618770
HP:0002493	Upper motor neuron dysfunction	388962	BOLA3	OMIM:614299
HP:0002493	Upper motor neuron dysfunction	28514	DLL1	ORPHA:93926
HP:0002493	Upper motor neuron dysfunction	28514	DLL1	ORPHA:93924
HP:0002493	Upper motor neuron dysfunction	28514	DLL1	ORPHA:93925
HP:0002493	Upper motor neuron dysfunction	28514	DLL1	ORPHA:220386
HP:0002493	Upper motor neuron dysfunction	2253	FGF8	ORPHA:93926
HP:0002493	Upper motor neuron dysfunction	2253	FGF8	ORPHA:93924
HP:0002493	Upper motor neuron dysfunction	2253	FGF8	ORPHA:93925
HP:0002493	Upper motor neuron dysfunction	2253	FGF8	ORPHA:220386
HP:0002493	Upper motor neuron dysfunction	6496	SIX3	ORPHA:93926
HP:0002493	Upper motor neuron dysfunction	6496	SIX3	ORPHA:93924
HP:0002493	Upper motor neuron dysfunction	6496	SIX3	ORPHA:93925
HP:0002493	Upper motor neuron dysfunction	6496	SIX3	ORPHA:220386
HP:0002493	Upper motor neuron dysfunction	7050	TGIF1	ORPHA:93926
HP:0002493	Upper motor neuron dysfunction	7050	TGIF1	ORPHA:93924
HP:0002493	Upper motor neuron dysfunction	7050	TGIF1	ORPHA:93925
HP:0002493	Upper motor neuron dysfunction	7050	TGIF1	ORPHA:220386
HP:0002493	Upper motor neuron dysfunction	4838	NODAL	ORPHA:93926
HP:0002493	Upper motor neuron dysfunction	4838	NODAL	ORPHA:93924
HP:0002493	Upper motor neuron dysfunction	4838	NODAL	ORPHA:93925
HP:0002493	Upper motor neuron dysfunction	4838	NODAL	ORPHA:220386
HP:0002493	Upper motor neuron dysfunction	6469	SHH	ORPHA:93926
HP:0002493	Upper motor neuron dysfunction	6469	SHH	ORPHA:93924
HP:0002493	Upper motor neuron dysfunction	6469	SHH	ORPHA:93925
HP:0002493	Upper motor neuron dysfunction	6469	SHH	ORPHA:220386
HP:0002493	Upper motor neuron dysfunction	7546	ZIC2	ORPHA:93926
HP:0002493	Upper motor neuron dysfunction	7546	ZIC2	ORPHA:93924
HP:0002493	Upper motor neuron dysfunction	7546	ZIC2	ORPHA:93925
HP:0002493	Upper motor neuron dysfunction	7546	ZIC2	ORPHA:220386
HP:0002493	Upper motor neuron dysfunction	6491	STIL	ORPHA:93926
HP:0002493	Upper motor neuron dysfunction	6491	STIL	ORPHA:93924
HP:0002493	Upper motor neuron dysfunction	6491	STIL	ORPHA:93925
HP:0002493	Upper motor neuron dysfunction	6491	STIL	ORPHA:220386
HP:0002493	Upper motor neuron dysfunction	2619	GAS1	ORPHA:93926
HP:0002493	Upper motor neuron dysfunction	2619	GAS1	ORPHA:93924
HP:0002493	Upper motor neuron dysfunction	2619	GAS1	ORPHA:93925
HP:0002493	Upper motor neuron dysfunction	2619	GAS1	ORPHA:220386
HP:0002493	Upper motor neuron dysfunction	84976	DISP1	ORPHA:93926
HP:0002493	Upper motor neuron dysfunction	84976	DISP1	ORPHA:93924
HP:0002493	Upper motor neuron dysfunction	84976	DISP1	ORPHA:93925
HP:0002493	Upper motor neuron dysfunction	84976	DISP1	ORPHA:220386
HP:0002493	Upper motor neuron dysfunction	2736	GLI2	ORPHA:93926
HP:0002493	Upper motor neuron dysfunction	2736	GLI2	ORPHA:93924
HP:0002493	Upper motor neuron dysfunction	2736	GLI2	ORPHA:93925
HP:0002493	Upper motor neuron dysfunction	2736	GLI2	ORPHA:220386
HP:0002493	Upper motor neuron dysfunction	8928	FOXH1	ORPHA:93926
HP:0002493	Upper motor neuron dysfunction	8928	FOXH1	ORPHA:93924
HP:0002493	Upper motor neuron dysfunction	8928	FOXH1	ORPHA:93925
HP:0002493	Upper motor neuron dysfunction	8928	FOXH1	ORPHA:220386
HP:0002493	Upper motor neuron dysfunction	6997	CRIPTO	ORPHA:93926
HP:0002493	Upper motor neuron dysfunction	6997	CRIPTO	ORPHA:93924
HP:0002493	Upper motor neuron dysfunction	6997	CRIPTO	ORPHA:93925
HP:0002493	Upper motor neuron dysfunction	6997	CRIPTO	ORPHA:220386
HP:0002493	Upper motor neuron dysfunction	5727	PTCH1	ORPHA:93926
HP:0002493	Upper motor neuron dysfunction	5727	PTCH1	ORPHA:93924
HP:0002493	Upper motor neuron dysfunction	5727	PTCH1	ORPHA:93925
HP:0002493	Upper motor neuron dysfunction	5727	PTCH1	ORPHA:220386
HP:0002493	Upper motor neuron dysfunction	50937	CDON	ORPHA:93926
HP:0002493	Upper motor neuron dysfunction	50937	CDON	ORPHA:93924
HP:0002493	Upper motor neuron dysfunction	50937	CDON	ORPHA:93925
HP:0002493	Upper motor neuron dysfunction	50937	CDON	ORPHA:220386
HP:0002493	Upper motor neuron dysfunction	2260	FGFR1	ORPHA:93924
HP:0002493	Upper motor neuron dysfunction	2260	FGFR1	ORPHA:2396
HP:0002493	Upper motor neuron dysfunction	2260	FGFR1	ORPHA:220386
HP:0002493	Upper motor neuron dysfunction	23007	PLCH1	ORPHA:93925
HP:0002493	Upper motor neuron dysfunction	10735	STAG2	ORPHA:93925
HP:0002493	Upper motor neuron dysfunction	10735	STAG2	ORPHA:220386
HP:0002493	Upper motor neuron dysfunction	79731	NARS2	OMIM:616239
HP:0002493	Upper motor neuron dysfunction	54832	VPS13C	ORPHA:2828
HP:0002493	Upper motor neuron dysfunction	54832	VPS13C	OMIM:616840
HP:0002493	Upper motor neuron dysfunction	11315	PARK7	ORPHA:2828
HP:0002493	Upper motor neuron dysfunction	7345	UCHL1	ORPHA:2828
HP:0002493	Upper motor neuron dysfunction	27429	HTRA2	ORPHA:2828
HP:0002493	Upper motor neuron dysfunction	120892	LRRK2	ORPHA:2828
HP:0002493	Upper motor neuron dysfunction	9829	DNAJC6	ORPHA:2828
HP:0002493	Upper motor neuron dysfunction	9829	DNAJC6	OMIM:615528
HP:0002493	Upper motor neuron dysfunction	6622	SNCA	ORPHA:2828
HP:0002493	Upper motor neuron dysfunction	6622	SNCA	ORPHA:171695
HP:0002493	Upper motor neuron dysfunction	5420	PODXL	ORPHA:2828
HP:0002493	Upper motor neuron dysfunction	65018	PINK1	ORPHA:2828
HP:0002493	Upper motor neuron dysfunction	8867	SYNJ1	ORPHA:2828
HP:0002493	Upper motor neuron dysfunction	8867	SYNJ1	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	5071	PRKN	ORPHA:2828
HP:0002493	Upper motor neuron dysfunction	3737	KCNA2	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	1759	DNM1	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	8120	AP3B2	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	523	ATP6V1A	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	523	ATP6V1A	ORPHA:357074
HP:0002493	Upper motor neuron dysfunction	10991	SLC38A3	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	51343	FZR1	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	51343	FZR1	OMIM:620145
HP:0002493	Upper motor neuron dysfunction	3747	KCNC2	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	1917	EEF1A2	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	23219	FBXO28	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	2561	GABRB2	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	2561	GABRB2	OMIM:617829
HP:0002493	Upper motor neuron dysfunction	8831	SYNGAP1	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	2558	GABRA5	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	2558	GABRA5	OMIM:618559
HP:0002493	Upper motor neuron dysfunction	2906	GRIN2D	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	116150	NUS1	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	1213	CLTC	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	1213	CLTC	OMIM:617854
HP:0002493	Upper motor neuron dysfunction	23334	SZT2	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	348980	HCN1	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	25977	NECAP1	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	23241	PACS2	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	6334	SCN8A	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	9568	GABBR2	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	9568	GABBR2	ORPHA:3095
HP:0002493	Upper motor neuron dysfunction	2555	GABRA2	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	2555	GABRA2	OMIM:618557
HP:0002493	Upper motor neuron dysfunction	55152	DALRD3	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	26999	CYFIP2	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	26999	CYFIP2	OMIM:618008
HP:0002493	Upper motor neuron dysfunction	4915	NTRK2	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	25973	PARS2	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	25973	PARS2	OMIM:618437
HP:0002493	Upper motor neuron dysfunction	23097	CDK19	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	2257	FGF12	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	5530	PPP3CA	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	5530	PPP3CA	OMIM:617711
HP:0002493	Upper motor neuron dysfunction	478	ATP1A3	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	22906	TRAK1	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	22906	TRAK1	OMIM:618201
HP:0002493	Upper motor neuron dysfunction	2566	GABRG2	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	7532	YWHAG	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	79876	UBA5	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	79876	UBA5	OMIM:617132
HP:0002493	Upper motor neuron dysfunction	6328	SCN3A	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	781	CACNA2D1	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	781	CACNA2D1	OMIM:620149
HP:0002493	Upper motor neuron dysfunction	10659	CELF2	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	774	CACNA1B	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	51412	ACTL6B	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	2290	FOXG1	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	2290	FOXG1	OMIM:613454
HP:0002493	Upper motor neuron dysfunction	6506	SLC1A2	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	6506	SLC1A2	OMIM:617105
HP:0002493	Upper motor neuron dysfunction	477	ATP1A2	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	3745	KCNB1	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	284111	SLC13A5	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	284111	SLC13A5	ORPHA:1946
HP:0002493	Upper motor neuron dysfunction	284111	SLC13A5	OMIM:615905
HP:0002493	Upper motor neuron dysfunction	22866	CNKSR2	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	773	CACNA1A	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	6323	SCN1A	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	79947	DHDDS	ORPHA:442835
HP:0002493	Upper motor neuron dysfunction	79947	DHDDS	OMIM:613861
HP:0002493	Upper motor neuron dysfunction	6905	TBCE	OMIM:617207
HP:0002493	Upper motor neuron dysfunction	55361	PI4K2A	OMIM:620732
HP:0002493	Upper motor neuron dysfunction	26834	RNU4-2	OMIM:620851
HP:0002493	Upper motor neuron dysfunction	1499	CTNNB1	ORPHA:404473
HP:0002493	Upper motor neuron dysfunction	1499	CTNNB1	OMIM:615075
HP:0002493	Upper motor neuron dysfunction	5654	HTRA1	ORPHA:199354
HP:0002493	Upper motor neuron dysfunction	5654	HTRA1	OMIM:600142
HP:0002493	Upper motor neuron dysfunction	92482	BBIP1	ORPHA:110
HP:0002493	Upper motor neuron dysfunction	80184	CEP290	ORPHA:110
HP:0002493	Upper motor neuron dysfunction	11020	IFT27	ORPHA:110
HP:0002493	Upper motor neuron dysfunction	582	BBS1	ORPHA:110
HP:0002493	Upper motor neuron dysfunction	49855	SCAPER	ORPHA:110
HP:0002493	Upper motor neuron dysfunction	4867	NPHP1	ORPHA:110
HP:0002493	Upper motor neuron dysfunction	51057	WDPCP	ORPHA:110
HP:0002493	Upper motor neuron dysfunction	132320	SCLT1	ORPHA:110
HP:0002493	Upper motor neuron dysfunction	27241	BBS9	ORPHA:110
HP:0002493	Upper motor neuron dysfunction	84984	CEP19	ORPHA:110
HP:0002493	Upper motor neuron dysfunction	22954	TRIM32	ORPHA:110
HP:0002493	Upper motor neuron dysfunction	54903	MKS1	ORPHA:110
HP:0002493	Upper motor neuron dysfunction	79738	BBS10	ORPHA:110
HP:0002493	Upper motor neuron dysfunction	123016	TTC8	ORPHA:110
HP:0002493	Upper motor neuron dysfunction	26160	IFT172	ORPHA:110
HP:0002493	Upper motor neuron dysfunction	583	BBS2	ORPHA:110
HP:0002493	Upper motor neuron dysfunction	585	BBS4	ORPHA:110
HP:0002493	Upper motor neuron dysfunction	8195	MKKS	ORPHA:110
HP:0002493	Upper motor neuron dysfunction	54585	LZTFL1	ORPHA:110
HP:0002493	Upper motor neuron dysfunction	55212	BBS7	ORPHA:110
HP:0002493	Upper motor neuron dysfunction	166379	BBS12	ORPHA:110
HP:0002493	Upper motor neuron dysfunction	10806	SDCCAG8	ORPHA:110
HP:0002493	Upper motor neuron dysfunction	157657	CFAP418	ORPHA:110
HP:0002493	Upper motor neuron dysfunction	84100	ARL6	ORPHA:110
HP:0002493	Upper motor neuron dysfunction	129880	BBS5	ORPHA:110
HP:0002493	Upper motor neuron dysfunction	80173	IFT74	ORPHA:110
HP:0002493	Upper motor neuron dysfunction	8398	PLA2G6	ORPHA:199351
HP:0002493	Upper motor neuron dysfunction	8398	PLA2G6	OMIM:612953
HP:0002493	Upper motor neuron dysfunction	8398	PLA2G6	OMIM:610217
HP:0002493	Upper motor neuron dysfunction	8398	PLA2G6	ORPHA:35069
HP:0002493	Upper motor neuron dysfunction	2911	GRM1	OMIM:617691
HP:0002493	Upper motor neuron dysfunction	29081	METTL5	OMIM:618665
HP:0002493	Upper motor neuron dysfunction	10717	AP4B1	OMIM:614066
HP:0002493	Upper motor neuron dysfunction	10717	AP4B1	ORPHA:280763
HP:0002493	Upper motor neuron dysfunction	11154	AP4S1	OMIM:614067
HP:0002493	Upper motor neuron dysfunction	11154	AP4S1	ORPHA:280763
HP:0002493	Upper motor neuron dysfunction	55773	TBC1D23	OMIM:617695
HP:0002493	Upper motor neuron dysfunction	1182	CLCN3	OMIM:619517
HP:0002493	Upper motor neuron dysfunction	92609	TIMM50	OMIM:617698
HP:0002493	Upper motor neuron dysfunction	92609	TIMM50	ORPHA:505216
HP:0002493	Upper motor neuron dysfunction	391356	PTRHD1	OMIM:620747
HP:0002493	Upper motor neuron dysfunction	51692	CPSF3	OMIM:619876
HP:0002493	Upper motor neuron dysfunction	8021	NUP214	OMIM:618426
HP:0002493	Upper motor neuron dysfunction	2517	FUCA1	ORPHA:349
HP:0002493	Upper motor neuron dysfunction	285362	SUMF1	OMIM:272200
HP:0002493	Upper motor neuron dysfunction	8517	IKBKG	ORPHA:464
HP:0002493	Upper motor neuron dysfunction	8517	IKBKG	OMIM:308300
HP:0002493	Upper motor neuron dysfunction	472	ATM	ORPHA:100
HP:0002493	Upper motor neuron dysfunction	10908	PNPLA6	OMIM:215470
HP:0002493	Upper motor neuron dysfunction	55210	ATAD3A	ORPHA:496790
HP:0002493	Upper motor neuron dysfunction	55210	ATAD3A	OMIM:617183
HP:0002493	Upper motor neuron dysfunction	55210	ATAD3A	OMIM:618810
HP:0002493	Upper motor neuron dysfunction	4644	MYO5A	ORPHA:33445
HP:0002493	Upper motor neuron dysfunction	51633	OTUD6B	ORPHA:505237
HP:0002493	Upper motor neuron dysfunction	9533	POLR1C	OMIM:616494
HP:0002493	Upper motor neuron dysfunction	79991	STN1	OMIM:617341
HP:0002493	Upper motor neuron dysfunction	9276	COPB2	OMIM:619884
HP:0002493	Upper motor neuron dysfunction	9276	COPB2	OMIM:617800
HP:0002493	Upper motor neuron dysfunction	122961	ISCA2	OMIM:616370
HP:0002493	Upper motor neuron dysfunction	8733	GPAA1	ORPHA:529665
HP:0002493	Upper motor neuron dysfunction	8733	GPAA1	OMIM:617810
HP:0002493	Upper motor neuron dysfunction	27086	FOXP1	ORPHA:391372
HP:0002493	Upper motor neuron dysfunction	253959	RALGAPA1	OMIM:618797
HP:0002493	Upper motor neuron dysfunction	11041	B4GAT1	OMIM:615287
HP:0002493	Upper motor neuron dysfunction	2232	FDXR	ORPHA:543470
HP:0002493	Upper motor neuron dysfunction	7358	UGDH	OMIM:618792
HP:0002493	Upper motor neuron dysfunction	113179	ADAT3	OMIM:615286
HP:0002493	Upper motor neuron dysfunction	113179	ADAT3	ORPHA:363528
HP:0002493	Upper motor neuron dysfunction	6942	TCF20	OMIM:618430
HP:0002493	Upper motor neuron dysfunction	56947	MFF	ORPHA:485421
HP:0002493	Upper motor neuron dysfunction	56947	MFF	OMIM:617086
HP:0002493	Upper motor neuron dysfunction	2904	GRIN2B	OMIM:616139
HP:0002493	Upper motor neuron dysfunction	2904	GRIN2B	OMIM:613970
HP:0002493	Upper motor neuron dysfunction	6621	SNAPC4	OMIM:620515
HP:0002493	Upper motor neuron dysfunction	146227	BEAN1	ORPHA:217012
HP:0002493	Upper motor neuron dysfunction	11261	CHP1	OMIM:618438
HP:0002493	Upper motor neuron dysfunction	9968	MED12	OMIM:305450
HP:0002493	Upper motor neuron dysfunction	38	ACAT1	ORPHA:134
HP:0002493	Upper motor neuron dysfunction	4854	NOTCH3	ORPHA:136
HP:0002493	Upper motor neuron dysfunction	23556	PIGN	OMIM:614080
HP:0002493	Upper motor neuron dysfunction	1436	CSF1R	OMIM:221820
HP:0002493	Upper motor neuron dysfunction	1436	CSF1R	OMIM:618476
HP:0002493	Upper motor neuron dysfunction	7143	TNR	OMIM:619653
HP:0002493	Upper motor neuron dysfunction	23162	MAPK8IP3	OMIM:618443
HP:0002493	Upper motor neuron dysfunction	6324	SCN1B	OMIM:617350
HP:0002493	Upper motor neuron dysfunction	6324	SCN1B	ORPHA:1934
HP:0002493	Upper motor neuron dysfunction	79989	IFT56	OMIM:619534
HP:0002493	Upper motor neuron dysfunction	125988	MICOS13	OMIM:618329
HP:0002493	Upper motor neuron dysfunction	23499	MACF1	OMIM:618325
HP:0002493	Upper motor neuron dysfunction	23499	MACF1	ORPHA:572013
HP:0002493	Upper motor neuron dysfunction	374969	SVBP	OMIM:618569
HP:0002493	Upper motor neuron dysfunction	4733	DRG1	OMIM:620641
HP:0002493	Upper motor neuron dysfunction	404672	GTF2H5	ORPHA:33364
HP:0002493	Upper motor neuron dysfunction	833	CARS1	ORPHA:33364
HP:0002493	Upper motor neuron dysfunction	2068	ERCC2	ORPHA:33364
HP:0002493	Upper motor neuron dysfunction	2068	ERCC2	ORPHA:910
HP:0002493	Upper motor neuron dysfunction	2068	ERCC2	ORPHA:220295
HP:0002493	Upper motor neuron dysfunction	2068	ERCC2	OMIM:278730
HP:0002493	Upper motor neuron dysfunction	7737	RNF113A	ORPHA:33364
HP:0002493	Upper motor neuron dysfunction	136647	MPLKIP	ORPHA:33364
HP:0002493	Upper motor neuron dysfunction	6897	TARS1	ORPHA:33364
HP:0002493	Upper motor neuron dysfunction	2071	ERCC3	ORPHA:33364
HP:0002493	Upper motor neuron dysfunction	2071	ERCC3	ORPHA:910
HP:0002493	Upper motor neuron dysfunction	2071	ERCC3	ORPHA:220295
HP:0002493	Upper motor neuron dysfunction	2961	GTF2E2	ORPHA:33364
HP:0002493	Upper motor neuron dysfunction	79641	ROGDI	ORPHA:1946
HP:0002493	Upper motor neuron dysfunction	79641	ROGDI	OMIM:226750
HP:0002493	Upper motor neuron dysfunction	8813	DPM1	ORPHA:79322
HP:0002493	Upper motor neuron dysfunction	1967	EIF2B1	OMIM:603896
HP:0002493	Upper motor neuron dysfunction	6812	STXBP1	ORPHA:599373
HP:0002493	Upper motor neuron dysfunction	2629	GBA1	ORPHA:77260
HP:0002493	Upper motor neuron dysfunction	2629	GBA1	OMIM:230900
HP:0002493	Upper motor neuron dysfunction	7040	TGFB1	OMIM:618213
HP:0002493	Upper motor neuron dysfunction	205327	C2orf69	OMIM:619423
HP:0002493	Upper motor neuron dysfunction	81570	CLPB	OMIM:616271
HP:0002493	Upper motor neuron dysfunction	81570	CLPB	ORPHA:445038
HP:0002493	Upper motor neuron dysfunction	1892	ECHS1	OMIM:616277
HP:0002493	Upper motor neuron dysfunction	51117	COQ4	OMIM:616276
HP:0002493	Upper motor neuron dysfunction	133686	NADK2	OMIM:616034
HP:0002493	Upper motor neuron dysfunction	3658	IREB2	OMIM:618451
HP:0002493	Upper motor neuron dysfunction	84188	FAR1	OMIM:616154
HP:0002493	Upper motor neuron dysfunction	120	ADD3	OMIM:617008
HP:0002493	Upper motor neuron dysfunction	164	AP1G1	OMIM:619548
HP:0002493	Upper motor neuron dysfunction	164	AP1G1	OMIM:619467
HP:0002493	Upper motor neuron dysfunction	835	CASP2	OMIM:620653
HP:0002493	Upper motor neuron dysfunction	5277	PIGA	OMIM:301072
HP:0002493	Upper motor neuron dysfunction	5277	PIGA	OMIM:300868
HP:0002493	Upper motor neuron dysfunction	8905	AP1S2	OMIM:304340
HP:0002493	Upper motor neuron dysfunction	78987	CRELD1	OMIM:620771
HP:0002493	Upper motor neuron dysfunction	6792	CDKL5	ORPHA:1934
HP:0002493	Upper motor neuron dysfunction	6792	CDKL5	ORPHA:3095
HP:0002493	Upper motor neuron dysfunction	3736	KCNA1	ORPHA:1934
HP:0002493	Upper motor neuron dysfunction	9091	PIGQ	ORPHA:1934
HP:0002493	Upper motor neuron dysfunction	140679	SLC32A1	ORPHA:1934
HP:0002493	Upper motor neuron dysfunction	2775	GNAO1	ORPHA:1934
HP:0002493	Upper motor neuron dysfunction	2775	GNAO1	OMIM:617493
HP:0002493	Upper motor neuron dysfunction	81603	TRIM8	ORPHA:1934
HP:0002493	Upper motor neuron dysfunction	2902	GRIN1	ORPHA:1934
HP:0002493	Upper motor neuron dysfunction	2902	GRIN1	ORPHA:208447
HP:0002493	Upper motor neuron dysfunction	2902	GRIN1	OMIM:617820
HP:0002493	Upper motor neuron dysfunction	2902	GRIN1	OMIM:614254
HP:0002493	Upper motor neuron dysfunction	79751	SLC25A22	ORPHA:1934
HP:0002493	Upper motor neuron dysfunction	79751	SLC25A22	OMIM:609304
HP:0002493	Upper motor neuron dysfunction	150094	SIK1	ORPHA:1934
HP:0002493	Upper motor neuron dysfunction	8573	CASK	ORPHA:1934
HP:0002493	Upper motor neuron dysfunction	8573	CASK	OMIM:300749
HP:0002493	Upper motor neuron dysfunction	8573	CASK	ORPHA:163937
HP:0002493	Upper motor neuron dysfunction	23312	DMXL2	ORPHA:1934
HP:0002493	Upper motor neuron dysfunction	2917	GRM7	ORPHA:1934
HP:0002493	Upper motor neuron dysfunction	170302	ARX	ORPHA:1934
HP:0002493	Upper motor neuron dysfunction	170302	ARX	ORPHA:452
HP:0002493	Upper motor neuron dysfunction	170302	ARX	ORPHA:3175
HP:0002493	Upper motor neuron dysfunction	170302	ARX	OMIM:300215
HP:0002493	Upper motor neuron dysfunction	170302	ARX	ORPHA:2508
HP:0002493	Upper motor neuron dysfunction	11284	PNKP	ORPHA:1934
HP:0002493	Upper motor neuron dysfunction	6326	SCN2A	ORPHA:1934
HP:0002493	Upper motor neuron dysfunction	51227	PIGP	ORPHA:1934
HP:0002493	Upper motor neuron dysfunction	4761	NEUROD2	ORPHA:1934
HP:0002493	Upper motor neuron dysfunction	84706	GPT2	OMIM:616281
HP:0002493	Upper motor neuron dysfunction	3155	HMGCL	ORPHA:20
HP:0002493	Upper motor neuron dysfunction	3155	HMGCL	OMIM:246450
HP:0002493	Upper motor neuron dysfunction	84894	LINGO1	OMIM:618103
HP:0002493	Upper motor neuron dysfunction	10785	WDR4	OMIM:618346
HP:0002493	Upper motor neuron dysfunction	4723	NDUFV1	OMIM:618225
HP:0002493	Upper motor neuron dysfunction	23516	SLC39A14	OMIM:617013
HP:0002493	Upper motor neuron dysfunction	23516	SLC39A14	ORPHA:521406
HP:0002493	Upper motor neuron dysfunction	2495	FTH1	OMIM:620669
HP:0002493	Upper motor neuron dysfunction	85476	GFM1	OMIM:609060
HP:0002493	Upper motor neuron dysfunction	83548	COG3	OMIM:620546
HP:0002493	Upper motor neuron dysfunction	4729	NDUFV2	OMIM:618229
HP:0002493	Upper motor neuron dysfunction	253738	EBF3	ORPHA:96148
HP:0002493	Upper motor neuron dysfunction	84320	ACBD6	OMIM:620785
HP:0002493	Upper motor neuron dysfunction	6709	SPTAN1	OMIM:620540
HP:0002493	Upper motor neuron dysfunction	128869	PIGU	OMIM:618590
HP:0002493	Upper motor neuron dysfunction	22854	NTNG1	ORPHA:3095
HP:0002493	Upper motor neuron dysfunction	4204	MECP2	ORPHA:3095
HP:0002493	Upper motor neuron dysfunction	4204	MECP2	OMIM:312750
HP:0002493	Upper motor neuron dysfunction	4204	MECP2	ORPHA:209370
HP:0002493	Upper motor neuron dysfunction	8243	SMC1A	ORPHA:3095
HP:0002493	Upper motor neuron dysfunction	8243	SMC1A	ORPHA:220386
HP:0002493	Upper motor neuron dysfunction	11277	TREX1	OMIM:225750
HP:0002493	Upper motor neuron dysfunction	11277	TREX1	ORPHA:51
HP:0002493	Upper motor neuron dysfunction	283989	TSEN54	OMIM:225753
HP:0002493	Upper motor neuron dysfunction	283989	TSEN54	ORPHA:2524
HP:0002493	Upper motor neuron dysfunction	4695	NDUFA2	OMIM:618235
HP:0002493	Upper motor neuron dysfunction	6651	SON	OMIM:617140
HP:0002493	Upper motor neuron dysfunction	6651	SON	ORPHA:500150
HP:0002493	Upper motor neuron dysfunction	10978	CLP1	ORPHA:411493
HP:0002493	Upper motor neuron dysfunction	10978	CLP1	OMIM:615803
HP:0002493	Upper motor neuron dysfunction	7453	WARS1	OMIM:620317
HP:0002493	Upper motor neuron dysfunction	112939	NACC1	ORPHA:500545
HP:0002493	Upper motor neuron dysfunction	112939	NACC1	OMIM:617393
HP:0002493	Upper motor neuron dysfunction	1654	DDX3X	ORPHA:457260
HP:0002493	Upper motor neuron dysfunction	1654	DDX3X	OMIM:300958
HP:0002493	Upper motor neuron dysfunction	79133	NDUFAF5	OMIM:618238
HP:0002493	Upper motor neuron dysfunction	6833	ABCC8	OMIM:240800
HP:0002493	Upper motor neuron dysfunction	8890	EIF2B4	OMIM:620314
HP:0002493	Upper motor neuron dysfunction	25885	POLR1A	OMIM:620675
HP:0002493	Upper motor neuron dysfunction	8892	EIF2B2	OMIM:620312
HP:0002493	Upper motor neuron dysfunction	387119	CEP85L	ORPHA:572013
HP:0002493	Upper motor neuron dysfunction	10166	SLC25A15	OMIM:238970
HP:0002493	Upper motor neuron dysfunction	6904	TBCD	ORPHA:496641
HP:0002493	Upper motor neuron dysfunction	10059	DNM1L	ORPHA:98673
HP:0002493	Upper motor neuron dysfunction	4976	OPA1	ORPHA:98673
HP:0002493	Upper motor neuron dysfunction	4976	OPA1	OMIM:125250
HP:0002493	Upper motor neuron dysfunction	1725	DHPS	OMIM:618480
HP:0002493	Upper motor neuron dysfunction	427	ASAH1	ORPHA:333
HP:0002493	Upper motor neuron dysfunction	56915	EXOSC5	OMIM:619576
HP:0002493	Upper motor neuron dysfunction	51132	RLIM	OMIM:300978
HP:0002493	Upper motor neuron dysfunction	10588	MTHFS	OMIM:618367
HP:0002493	Upper motor neuron dysfunction	63925	ZNF335	OMIM:615095
HP:0002493	Upper motor neuron dysfunction	4125	MAN2B1	OMIM:248500
HP:0002493	Upper motor neuron dysfunction	92255	LMBRD2	OMIM:619694
HP:0002493	Upper motor neuron dysfunction	80224	NUBPL	OMIM:618242
HP:0002493	Upper motor neuron dysfunction	54834	GDAP2	OMIM:618369
HP:0002493	Upper motor neuron dysfunction	51704	GPRC5B	OMIM:620447
HP:0002493	Upper motor neuron dysfunction	361	AQP4	OMIM:620448
HP:0002493	Upper motor neuron dysfunction	3376	IARS1	ORPHA:541423
HP:0002493	Upper motor neuron dysfunction	3376	IARS1	OMIM:617093
HP:0002493	Upper motor neuron dysfunction	29920	PYCR2	ORPHA:481152
HP:0002493	Upper motor neuron dysfunction	29920	PYCR2	OMIM:616420
HP:0002493	Upper motor neuron dysfunction	10092	ARPC5	OMIM:620565
HP:0002493	Upper motor neuron dysfunction	4141	MARS1	OMIM:620323
HP:0002493	Upper motor neuron dysfunction	23203	PMPCA	OMIM:213200
HP:0002493	Upper motor neuron dysfunction	23203	PMPCA	ORPHA:1170
HP:0002493	Upper motor neuron dysfunction	549	AUH	OMIM:250950
HP:0002493	Upper motor neuron dysfunction	4864	NPC1	OMIM:257220
HP:0002493	Upper motor neuron dysfunction	8604	SLC25A12	OMIM:612949
HP:0002493	Upper motor neuron dysfunction	2632	GBE1	ORPHA:206583
HP:0002493	Upper motor neuron dysfunction	538	ATP7A	ORPHA:565
HP:0002493	Upper motor neuron dysfunction	1781	DYNC1I2	OMIM:618492
HP:0002493	Upper motor neuron dysfunction	112812	FDX2	OMIM:251900
HP:0002493	Upper motor neuron dysfunction	51102	MECR	OMIM:617282
HP:0002493	Upper motor neuron dysfunction	51102	MECR	ORPHA:508093
HP:0002493	Upper motor neuron dysfunction	23111	SPART	ORPHA:101000
HP:0002493	Upper motor neuron dysfunction	23258	DENND5A	OMIM:617281
HP:0002493	Upper motor neuron dysfunction	51324	SPG21	ORPHA:101001
HP:0002493	Upper motor neuron dysfunction	5903	RANBP2	ORPHA:88619
HP:0002493	Upper motor neuron dysfunction	2743	GLRB	ORPHA:3197
HP:0002493	Upper motor neuron dysfunction	2741	GLRA1	ORPHA:3197
HP:0002493	Upper motor neuron dysfunction	10243	GPHN	ORPHA:3197
HP:0002493	Upper motor neuron dysfunction	84896	ATAD1	ORPHA:3197
HP:0002493	Upper motor neuron dysfunction	9152	SLC6A5	ORPHA:3197
HP:0002493	Upper motor neuron dysfunction	27316	RBMX	OMIM:309555
HP:0002493	Upper motor neuron dysfunction	6390	SDHB	OMIM:619224
HP:0002493	Upper motor neuron dysfunction	6390	SDHB	ORPHA:3208
HP:0002493	Upper motor neuron dysfunction	2009	EML1	OMIM:600348
HP:0002493	Upper motor neuron dysfunction	9757	KMT2B	OMIM:617284
HP:0002493	Upper motor neuron dysfunction	9758	FRMPD4	OMIM:300983
HP:0002493	Upper motor neuron dysfunction	4700	NDUFA6	OMIM:618253
HP:0002493	Upper motor neuron dysfunction	8635	RNASET2	OMIM:612951
HP:0002493	Upper motor neuron dysfunction	6304	SATB1	OMIM:619228
HP:0002493	Upper motor neuron dysfunction	6304	SATB1	OMIM:619229
HP:0002493	Upper motor neuron dysfunction	25939	SAMHD1	OMIM:612952
HP:0002493	Upper motor neuron dysfunction	25939	SAMHD1	ORPHA:51
HP:0002493	Upper motor neuron dysfunction	64374	SIL1	ORPHA:559
HP:0002493	Upper motor neuron dysfunction	64374	SIL1	OMIM:248800
HP:0002493	Upper motor neuron dysfunction	1974	EIF4A2	OMIM:620455
HP:0002493	Upper motor neuron dysfunction	4548	MTR	OMIM:250940
HP:0002493	Upper motor neuron dysfunction	26040	SETBP1	ORPHA:798
HP:0002493	Upper motor neuron dysfunction	6874	TAF4	OMIM:620450
HP:0002493	Upper motor neuron dysfunction	6697	SPR	OMIM:612716
HP:0002493	Upper motor neuron dysfunction	3251	HPRT1	ORPHA:510
HP:0002493	Upper motor neuron dysfunction	3251	HPRT1	OMIM:300322
HP:0002493	Upper motor neuron dysfunction	57187	THOC2	OMIM:300957
HP:0002493	Upper motor neuron dysfunction	27107	ZBTB11	OMIM:618383
HP:0002493	Upper motor neuron dysfunction	2892	GRIA3	ORPHA:364028
HP:0002493	Upper motor neuron dysfunction	6711	SPTBN1	OMIM:619475
HP:0002493	Upper motor neuron dysfunction	9927	MFN2	OMIM:609260
HP:0002493	Upper motor neuron dysfunction	92935	MARS2	ORPHA:314603
HP:0002493	Upper motor neuron dysfunction	92935	MARS2	OMIM:611390
HP:0002493	Upper motor neuron dysfunction	378884	NHLRC1	ORPHA:501
HP:0002493	Upper motor neuron dysfunction	7957	EPM2A	ORPHA:501
HP:0002493	Upper motor neuron dysfunction	1528	CYB5A	ORPHA:621
HP:0002493	Upper motor neuron dysfunction	1727	CYB5R3	ORPHA:621
HP:0002493	Upper motor neuron dysfunction	2571	GAD1	OMIM:619124
HP:0002493	Upper motor neuron dysfunction	100147744	RNU7-1	OMIM:619487
HP:0002493	Upper motor neuron dysfunction	100147744	RNU7-1	ORPHA:51
HP:0002493	Upper motor neuron dysfunction	6872	TAF1	OMIM:300966
HP:0002493	Upper motor neuron dysfunction	90522	YIF1B	OMIM:619125
HP:0002493	Upper motor neuron dysfunction	60558	GUF1	OMIM:617065
HP:0002493	Upper motor neuron dysfunction	84340	GFM2	OMIM:618397
HP:0002493	Upper motor neuron dysfunction	23287	AGTPBP1	OMIM:618276
HP:0002493	Upper motor neuron dysfunction	23287	AGTPBP1	ORPHA:2254
HP:0002493	Upper motor neuron dysfunction	57038	RARS2	OMIM:611523
HP:0002493	Upper motor neuron dysfunction	7284	TUFM	OMIM:610678
HP:0002493	Upper motor neuron dysfunction	6663	SOX10	OMIM:609136
HP:0002493	Upper motor neuron dysfunction	6663	SOX10	ORPHA:163746
HP:0002493	Upper motor neuron dysfunction	55670	PEX26	ORPHA:772
HP:0002493	Upper motor neuron dysfunction	5824	PEX19	ORPHA:772
HP:0002493	Upper motor neuron dysfunction	5828	PEX2	ORPHA:772
HP:0002493	Upper motor neuron dysfunction	8504	PEX3	ORPHA:772
HP:0002493	Upper motor neuron dysfunction	9409	PEX16	ORPHA:772
HP:0002493	Upper motor neuron dysfunction	9409	PEX16	OMIM:614877
HP:0002493	Upper motor neuron dysfunction	5190	PEX6	ORPHA:772
HP:0002493	Upper motor neuron dysfunction	8799	PEX11B	ORPHA:772
HP:0002493	Upper motor neuron dysfunction	5830	PEX5	ORPHA:772
HP:0002493	Upper motor neuron dysfunction	5189	PEX1	ORPHA:772
HP:0002493	Upper motor neuron dysfunction	5193	PEX12	ORPHA:772
HP:0002493	Upper motor neuron dysfunction	5194	PEX13	ORPHA:772
HP:0002493	Upper motor neuron dysfunction	5195	PEX14	ORPHA:772
HP:0002493	Upper motor neuron dysfunction	5192	PEX10	ORPHA:772
HP:0002493	Upper motor neuron dysfunction	23636	NUP62	ORPHA:225154
HP:0002493	Upper motor neuron dysfunction	23636	NUP62	OMIM:271930
HP:0002493	Upper motor neuron dysfunction	53371	NUP54	ORPHA:225154
HP:0002493	Upper motor neuron dysfunction	103	ADAR	ORPHA:225154
HP:0002493	Upper motor neuron dysfunction	103	ADAR	ORPHA:51
HP:0002493	Upper motor neuron dysfunction	8242	KDM5C	ORPHA:85279
HP:0002493	Upper motor neuron dysfunction	8242	KDM5C	OMIM:300534
HP:0002493	Upper motor neuron dysfunction	1315	COPB1	OMIM:619255
HP:0002493	Upper motor neuron dysfunction	4668	NAGA	OMIM:609241
HP:0002493	Upper motor neuron dysfunction	4668	NAGA	ORPHA:79279
HP:0002493	Upper motor neuron dysfunction	727676	SNORD118	ORPHA:542310
HP:0002493	Upper motor neuron dysfunction	727676	SNORD118	OMIM:614561
HP:0002493	Upper motor neuron dysfunction	283	ANG	OMIM:611895
HP:0002493	Upper motor neuron dysfunction	283	ANG	ORPHA:803
HP:0002493	Upper motor neuron dysfunction	5216	PFN1	OMIM:614808
HP:0002493	Upper motor neuron dysfunction	5216	PFN1	ORPHA:803
HP:0002493	Upper motor neuron dysfunction	84153	RNASEH2C	OMIM:610329
HP:0002493	Upper motor neuron dysfunction	84153	RNASEH2C	ORPHA:51
HP:0002493	Upper motor neuron dysfunction	8139	GAN	ORPHA:643
HP:0002493	Upper motor neuron dysfunction	224	ALDH3A2	OMIM:270200
HP:0002493	Upper motor neuron dysfunction	224	ALDH3A2	ORPHA:816
HP:0002493	Upper motor neuron dysfunction	4860	PNP	ORPHA:760
HP:0002493	Upper motor neuron dysfunction	56922	MCCC1	ORPHA:6
HP:0002493	Upper motor neuron dysfunction	64087	MCCC2	ORPHA:6
HP:0002493	Upper motor neuron dysfunction	114034	TOE1	ORPHA:284339
HP:0002493	Upper motor neuron dysfunction	114034	TOE1	OMIM:614969
HP:0002493	Upper motor neuron dysfunction	9562	MINPP1	ORPHA:284339
HP:0002493	Upper motor neuron dysfunction	91574	MTRFR	ORPHA:320375
HP:0002493	Upper motor neuron dysfunction	10535	RNASEH2A	OMIM:610333
HP:0002493	Upper motor neuron dysfunction	10535	RNASEH2A	ORPHA:51
HP:0002493	Upper motor neuron dysfunction	23236	PLCB1	OMIM:613722
HP:0002493	Upper motor neuron dysfunction	11342	RNF13	ORPHA:544503
HP:0002493	Upper motor neuron dysfunction	27445	PCLO	OMIM:608027
HP:0002493	Upper motor neuron dysfunction	50640	PNPLA8	OMIM:251950
HP:0002493	Upper motor neuron dysfunction	90952	ESAM	OMIM:620371
HP:0002493	Upper motor neuron dysfunction	11113	CIT	OMIM:617090
HP:0002493	Upper motor neuron dysfunction	27183	VPS4A	OMIM:619273
HP:0002493	Upper motor neuron dysfunction	10128	LRPPRC	OMIM:220111
HP:0002493	Upper motor neuron dysfunction	10128	LRPPRC	ORPHA:70472
HP:0002493	Upper motor neuron dysfunction	2643	GCH1	OMIM:128230
HP:0002493	Upper motor neuron dysfunction	158	ADSL	OMIM:103050
HP:0002493	Upper motor neuron dysfunction	6535	SLC6A8	OMIM:300352
HP:0002493	Upper motor neuron dysfunction	375	ARF1	OMIM:618185
HP:0002493	Upper motor neuron dysfunction	8506	CNTNAP1	OMIM:618186
HP:0002493	Upper motor neuron dysfunction	5393	EXOSC9	OMIM:618065
HP:0002493	Upper motor neuron dysfunction	5393	EXOSC9	ORPHA:2254
HP:0002493	Upper motor neuron dysfunction	83700	JAM3	OMIM:613730
HP:0002493	Upper motor neuron dysfunction	1593	CYP27A1	OMIM:213700
HP:0002493	Upper motor neuron dysfunction	1593	CYP27A1	ORPHA:909
HP:0002493	Upper motor neuron dysfunction	25821	MTO1	OMIM:614702
HP:0002493	Upper motor neuron dysfunction	55624	POMGNT1	OMIM:253280
HP:0002493	Upper motor neuron dysfunction	132158	GLYCTK	ORPHA:941
HP:0002493	Upper motor neuron dysfunction	132158	GLYCTK	OMIM:220120
HP:0002493	Upper motor neuron dysfunction	4758	NEU1	ORPHA:93399
HP:0002493	Upper motor neuron dysfunction	4758	NEU1	ORPHA:93400
HP:0002493	Upper motor neuron dysfunction	4983	OPHN1	OMIM:300486
HP:0002493	Upper motor neuron dysfunction	51112	TRAPPC12	ORPHA:500144
HP:0002493	Upper motor neuron dysfunction	51506	UFC1	OMIM:618076
HP:0002493	Upper motor neuron dysfunction	9442	MED27	OMIM:619286
HP:0002493	Upper motor neuron dysfunction	6311	ATXN2	OMIM:183090
HP:0002493	Upper motor neuron dysfunction	6311	ATXN2	ORPHA:803
HP:0002493	Upper motor neuron dysfunction	25914	RTTN	OMIM:614833
HP:0002493	Upper motor neuron dysfunction	25914	RTTN	ORPHA:468631
HP:0002493	Upper motor neuron dysfunction	9640	ZNF592	ORPHA:83472
HP:0002493	Upper motor neuron dysfunction	80055	PGAP1	OMIM:615802
HP:0002493	Upper motor neuron dysfunction	23431	AP4E1	OMIM:613744
HP:0002493	Upper motor neuron dysfunction	23431	AP4E1	ORPHA:280763
HP:0002493	Upper motor neuron dysfunction	9915	ARNT2	OMIM:615926
HP:0002493	Upper motor neuron dysfunction	57582	KCNT1	OMIM:614959
HP:0002493	Upper motor neuron dysfunction	26580	BSCL2	OMIM:615924
HP:0002493	Upper motor neuron dysfunction	26580	BSCL2	ORPHA:363400
HP:0002493	Upper motor neuron dysfunction	150468	CKAP2L	ORPHA:3255
HP:0002493	Upper motor neuron dysfunction	271	AMPD2	OMIM:615809
HP:0002493	Upper motor neuron dysfunction	271	AMPD2	ORPHA:401805
HP:0002493	Upper motor neuron dysfunction	4718	NDUFC2	OMIM:619170
HP:0002493	Upper motor neuron dysfunction	1738	DLD	ORPHA:2394
HP:0002493	Upper motor neuron dysfunction	1351	COX8A	OMIM:619059
HP:0002493	Upper motor neuron dysfunction	8913	CACNA1G	OMIM:618087
HP:0002493	Upper motor neuron dysfunction	64207	IRF2BPL	OMIM:618088
HP:0002493	Upper motor neuron dysfunction	5119	CHMP1A	OMIM:614961
HP:0002493	Upper motor neuron dysfunction	3845	KRAS	ORPHA:2396
HP:0002493	Upper motor neuron dysfunction	1509	CTSD	OMIM:610127
HP:0002493	Upper motor neuron dysfunction	23325	WASHC4	OMIM:615817
HP:0002493	Upper motor neuron dysfunction	5428	POLG	ORPHA:726
HP:0002493	Upper motor neuron dysfunction	7276	TTR	OMIM:105210
HP:0002493	Upper motor neuron dysfunction	1678	TIMM8A	OMIM:304700
HP:0002493	Upper motor neuron dysfunction	815	CAMK2A	OMIM:618095
HP:0002493	Upper motor neuron dysfunction	57531	HACE1	ORPHA:464282
HP:0002493	Upper motor neuron dysfunction	9839	ZEB2	ORPHA:261552
HP:0002493	Upper motor neuron dysfunction	9839	ZEB2	ORPHA:261537
HP:0002493	Upper motor neuron dysfunction	64919	BCL11B	OMIM:618092
HP:0002493	Upper motor neuron dysfunction	9445	ITM2B	OMIM:117300
HP:0002493	Upper motor neuron dysfunction	9445	ITM2B	OMIM:176500
HP:0002493	Upper motor neuron dysfunction	26053	AUTS2	ORPHA:352490
HP:0002493	Upper motor neuron dysfunction	26090	ABHD12	OMIM:612674
HP:0002493	Upper motor neuron dysfunction	10382	TUBB4A	OMIM:612438
HP:0002493	Upper motor neuron dysfunction	84947	SERAC1	OMIM:614739
HP:0002493	Upper motor neuron dysfunction	2395	FXN	ORPHA:95
HP:0002493	Upper motor neuron dysfunction	2512	FTL	OMIM:606159
HP:0002493	Upper motor neuron dysfunction	7025	NR2F1	ORPHA:401777
HP:0002493	Upper motor neuron dysfunction	7025	NR2F1	OMIM:615722
HP:0002493	Upper motor neuron dysfunction	149371	EXOC8	OMIM:619076
HP:0002493	Upper motor neuron dysfunction	3028	HSD17B10	OMIM:300438
HP:0002493	Upper motor neuron dysfunction	6804	STX1A	ORPHA:904
HP:0002493	Upper motor neuron dysfunction	7461	CLIP2	ORPHA:904
HP:0002493	Upper motor neuron dysfunction	84277	DNAJC30	ORPHA:904
HP:0002493	Upper motor neuron dysfunction	8468	FKBP6	ORPHA:904
HP:0002493	Upper motor neuron dysfunction	5982	RFC2	ORPHA:904
HP:0002493	Upper motor neuron dysfunction	2969	GTF2I	ORPHA:904
HP:0002493	Upper motor neuron dysfunction	3984	LIMK1	ORPHA:904
HP:0002493	Upper motor neuron dysfunction	9569	GTF2IRD1	ORPHA:904
HP:0002493	Upper motor neuron dysfunction	155382	VPS37D	ORPHA:904
HP:0002493	Upper motor neuron dysfunction	155368	METTL27	ORPHA:904
HP:0002493	Upper motor neuron dysfunction	114049	BUD23	ORPHA:904
HP:0002493	Upper motor neuron dysfunction	7458	EIF4H	ORPHA:904
HP:0002493	Upper motor neuron dysfunction	84163	GTF2IRD2	ORPHA:904
HP:0002493	Upper motor neuron dysfunction	26608	TBL2	ORPHA:904
HP:0002493	Upper motor neuron dysfunction	653361	NCF1	ORPHA:904
HP:0002493	Upper motor neuron dysfunction	135886	TMEM270	ORPHA:904
HP:0002493	Upper motor neuron dysfunction	9031	BAZ1B	ORPHA:904
HP:0002493	Upper motor neuron dysfunction	2006	ELN	ORPHA:904
HP:0002493	Upper motor neuron dysfunction	11340	EXOSC8	ORPHA:2254
HP:0002493	Upper motor neuron dysfunction	51010	EXOSC3	ORPHA:2254
HP:0002493	Upper motor neuron dysfunction	51010	EXOSC3	OMIM:614678
HP:0002493	Upper motor neuron dysfunction	7443	VRK1	ORPHA:2254
HP:0002493	Upper motor neuron dysfunction	91137	SLC25A46	ORPHA:2254
HP:0002493	Upper motor neuron dysfunction	285175	UNC80	OMIM:616801
HP:0002493	Upper motor neuron dysfunction	2073	ERCC5	OMIM:278780
HP:0002493	Upper motor neuron dysfunction	2073	ERCC5	ORPHA:910
HP:0002493	Upper motor neuron dysfunction	2073	ERCC5	ORPHA:220295
HP:0002493	Upper motor neuron dysfunction	90624	LYRM7	OMIM:615838
HP:0002493	Upper motor neuron dysfunction	1282	COL4A1	OMIM:175780
HP:0002493	Upper motor neuron dysfunction	9289	ADGRG1	ORPHA:98889
HP:0002493	Upper motor neuron dysfunction	5297	PI4KA	ORPHA:98889
HP:0002493	Upper motor neuron dysfunction	27286	SRPX2	ORPHA:98889
HP:0002493	Upper motor neuron dysfunction	9990	SLC12A6	OMIM:620068
HP:0002493	Upper motor neuron dysfunction	6609	SMPD1	OMIM:257200
HP:0002493	Upper motor neuron dysfunction	6558	SLC12A2	OMIM:619083
HP:0002493	Upper motor neuron dysfunction	724066	ATXN8	ORPHA:98760
HP:0002493	Upper motor neuron dysfunction	724066	ATXN8	OMIM:608768
HP:0002493	Upper motor neuron dysfunction	6315	ATXN8OS	ORPHA:98760
HP:0002493	Upper motor neuron dysfunction	6315	ATXN8OS	OMIM:608768
HP:0002493	Upper motor neuron dysfunction	56623	INPP5E	OMIM:610156
HP:0002493	Upper motor neuron dysfunction	9440	MED17	OMIM:613668
HP:0002493	Upper motor neuron dysfunction	25828	TXN2	OMIM:616811
HP:0002493	Upper motor neuron dysfunction	84919	PPP1R15B	OMIM:616817
HP:0002493	Upper motor neuron dysfunction	6908	TBP	ORPHA:98759
HP:0002493	Upper motor neuron dysfunction	23204	ARL6IP1	ORPHA:401780
HP:0002493	Upper motor neuron dysfunction	23204	ARL6IP1	OMIM:615685
HP:0002493	Upper motor neuron dysfunction	7846	TUBA1A	ORPHA:171680
HP:0002493	Upper motor neuron dysfunction	26047	CNTNAP2	OMIM:610042
HP:0002493	Upper motor neuron dysfunction	6389	SDHA	ORPHA:3208
HP:0002493	Upper motor neuron dysfunction	6389	SDHA	OMIM:252011
HP:0002493	Upper motor neuron dysfunction	6392	SDHD	ORPHA:3208
HP:0002493	Upper motor neuron dysfunction	644096	SDHAF1	ORPHA:3208
HP:0002493	Upper motor neuron dysfunction	55275	VPS53	OMIM:615851
HP:0002493	Upper motor neuron dysfunction	50628	GEMIN4	OMIM:617913
HP:0002493	Upper motor neuron dysfunction	2146	EZH2	OMIM:277590
HP:0002493	Upper motor neuron dysfunction	2146	EZH2	ORPHA:3447
HP:0002493	Upper motor neuron dysfunction	3954	LETM1	OMIM:620089
HP:0002493	Upper motor neuron dysfunction	8148	TAF15	ORPHA:803
HP:0002493	Upper motor neuron dysfunction	5445	PON2	ORPHA:803
HP:0002493	Upper motor neuron dysfunction	9217	VAPB	ORPHA:803
HP:0002493	Upper motor neuron dysfunction	5630	PRPH	ORPHA:803
HP:0002493	Upper motor neuron dysfunction	5630	PRPH	OMIM:105400
HP:0002493	Upper motor neuron dysfunction	29110	TBK1	ORPHA:803
HP:0002493	Upper motor neuron dysfunction	55830	GLT8D1	ORPHA:803
HP:0002493	Upper motor neuron dysfunction	755	CFAP410	ORPHA:803
HP:0002493	Upper motor neuron dysfunction	10891	PPARGC1A	ORPHA:803
HP:0002493	Upper motor neuron dysfunction	6647	SOD1	ORPHA:803
HP:0002493	Upper motor neuron dysfunction	6647	SOD1	OMIM:105400
HP:0002493	Upper motor neuron dysfunction	10133	OPTN	ORPHA:803
HP:0002493	Upper motor neuron dysfunction	1639	DCTN1	ORPHA:803
HP:0002493	Upper motor neuron dysfunction	1639	DCTN1	OMIM:105400
HP:0002493	Upper motor neuron dysfunction	5444	PON1	ORPHA:803
HP:0002493	Upper motor neuron dysfunction	5446	PON3	ORPHA:803
HP:0002493	Upper motor neuron dysfunction	4744	NEFH	ORPHA:803
HP:0002493	Upper motor neuron dysfunction	4744	NEFH	OMIM:105400
HP:0002493	Upper motor neuron dysfunction	9782	MATR3	ORPHA:803
HP:0002493	Upper motor neuron dysfunction	23435	TARDBP	ORPHA:803
HP:0002493	Upper motor neuron dysfunction	23435	TARDBP	OMIM:612069
HP:0002493	Upper motor neuron dysfunction	29978	UBQLN2	ORPHA:803
HP:0002493	Upper motor neuron dysfunction	2733	GLE1	ORPHA:803
HP:0002493	Upper motor neuron dysfunction	2521	FUS	ORPHA:803
HP:0002493	Upper motor neuron dysfunction	1610	DAO	ORPHA:803
HP:0002493	Upper motor neuron dysfunction	2066	ERBB4	ORPHA:803
HP:0002493	Upper motor neuron dysfunction	311	ANXA11	ORPHA:803
HP:0002493	Upper motor neuron dysfunction	23025	UNC13A	ORPHA:803
HP:0002493	Upper motor neuron dysfunction	899	CCNF	ORPHA:803
HP:0002493	Upper motor neuron dysfunction	64324	NSD1	ORPHA:3447
HP:0002493	Upper motor neuron dysfunction	23512	SUZ12	ORPHA:3447
HP:0002493	Upper motor neuron dysfunction	84978	FRMD5	OMIM:620094
HP:0002493	Upper motor neuron dysfunction	6567	SLC16A2	ORPHA:59
HP:0002493	Upper motor neuron dysfunction	23503	ZFYVE26	ORPHA:100996
HP:0002493	Upper motor neuron dysfunction	25793	FBXO7	ORPHA:171695
HP:0002493	Upper motor neuron dysfunction	80207	OPA3	OMIM:258501
HP:0002493	Upper motor neuron dysfunction	9894	TELO2	OMIM:616954
HP:0002493	Upper motor neuron dysfunction	9894	TELO2	ORPHA:488642
HP:0002493	Upper motor neuron dysfunction	57410	SCYL1	OMIM:616719
HP:0002493	Upper motor neuron dysfunction	57410	SCYL1	ORPHA:466794
HP:0002493	Upper motor neuron dysfunction	9230	RAB11B	OMIM:617807
HP:0002493	Upper motor neuron dysfunction	79621	RNASEH2B	ORPHA:51
HP:0002493	Upper motor neuron dysfunction	134353	LSM11	ORPHA:51
HP:0002493	Upper motor neuron dysfunction	64135	IFIH1	ORPHA:51
HP:0002493	Upper motor neuron dysfunction	6310	ATXN1	OMIM:164400
HP:0002493	Upper motor neuron dysfunction	7507	XPA	ORPHA:910
HP:0002493	Upper motor neuron dysfunction	7507	XPA	OMIM:278700
HP:0002493	Upper motor neuron dysfunction	7508	XPC	ORPHA:910
HP:0002493	Upper motor neuron dysfunction	1643	DDB2	ORPHA:910
HP:0002493	Upper motor neuron dysfunction	2072	ERCC4	ORPHA:910
HP:0002493	Upper motor neuron dysfunction	2072	ERCC4	ORPHA:220295
HP:0002493	Upper motor neuron dysfunction	6513	SLC2A1	ORPHA:71277
HP:0002493	Upper motor neuron dysfunction	6513	SLC2A1	OMIM:608885
HP:0002493	Upper motor neuron dysfunction	6513	SLC2A1	OMIM:606777
HP:0002493	Upper motor neuron dysfunction	55906	ZC4H2	OMIM:301041
HP:0002493	Upper motor neuron dysfunction	55906	ZC4H2	OMIM:314580
HP:0002493	Upper motor neuron dysfunction	6683	SPAST	ORPHA:100985
HP:0002493	Upper motor neuron dysfunction	7167	TPI1	OMIM:615512
HP:0002493	Upper motor neuron dysfunction	9698	PUM1	OMIM:617931
HP:0002493	Upper motor neuron dysfunction	29926	GMPPA	OMIM:615510
HP:0002493	Upper motor neuron dysfunction	57704	GBA2	ORPHA:352641
HP:0002493	Upper motor neuron dysfunction	53616	ADAM22	OMIM:617933
HP:0002493	Upper motor neuron dysfunction	23600	AMACR	OMIM:614307
HP:0002493	Upper motor neuron dysfunction	546	ATRX	OMIM:301040
HP:0002493	Upper motor neuron dysfunction	91147	TMEM67	OMIM:216360
HP:0002493	Upper motor neuron dysfunction	3748	KCNC3	OMIM:605259
HP:0002493	Upper motor neuron dysfunction	4953	ODC1	ORPHA:544488
HP:0002493	Upper motor neuron dysfunction	57505	AARS2	OMIM:615889
HP:0002493	Upper motor neuron dysfunction	10273	STUB1	OMIM:615768
HP:0002493	Upper motor neuron dysfunction	79644	SRD5A3	OMIM:612379
HP:0002493	Upper motor neuron dysfunction	91869	RFT1	OMIM:612015
HP:0002493	Upper motor neuron dysfunction	51218	GLRX5	OMIM:616859
HP:0002493	Upper motor neuron dysfunction	2720	GLB1	ORPHA:79255
HP:0002493	Upper motor neuron dysfunction	2891	GRIA2	OMIM:618917
HP:0002493	Upper motor neuron dysfunction	6314	ATXN7	OMIM:164500
HP:0002493	Upper motor neuron dysfunction	10342	TFG	ORPHA:431329
HP:0002493	Upper motor neuron dysfunction	23732	FRRS1L	OMIM:616981
HP:0002493	Upper motor neuron dysfunction	9512	PMPCB	OMIM:617954
HP:0002493	Upper motor neuron dysfunction	2058	EPRS1	OMIM:617951
HP:0002493	Upper motor neuron dysfunction	54463	RETREG1	OMIM:613115
HP:0002493	Upper motor neuron dysfunction	80746	TSEN2	OMIM:612389
HP:0002493	Upper motor neuron dysfunction	80746	TSEN2	ORPHA:2524
HP:0002493	Upper motor neuron dysfunction	80208	SPG11	OMIM:602099
HP:0002493	Upper motor neuron dysfunction	80208	SPG11	OMIM:616668
HP:0002493	Upper motor neuron dysfunction	100506658	OCLN	ORPHA:1229
HP:0002493	Upper motor neuron dysfunction	100506658	OCLN	OMIM:251290
HP:0002493	Upper motor neuron dysfunction	84693	MCEE	OMIM:251120
HP:0002493	Upper motor neuron dysfunction	5422	POLA1	OMIM:301030
HP:0002493	Upper motor neuron dysfunction	1641	DCX	OMIM:300067
HP:0002493	Upper motor neuron dysfunction	175	AGA	OMIM:208400
HP:0002493	Upper motor neuron dysfunction	27010	TPK1	OMIM:614458
HP:0002493	Upper motor neuron dysfunction	26227	PHGDH	ORPHA:79351
HP:0002493	Upper motor neuron dysfunction	55644	OSGEP	OMIM:617729
HP:0002493	Upper motor neuron dysfunction	953	ENTPD1	ORPHA:401810
HP:0002493	Upper motor neuron dysfunction	953	ENTPD1	OMIM:615683
HP:0002493	Upper motor neuron dysfunction	112858	TP53RK	OMIM:617730
HP:0002493	Upper motor neuron dysfunction	8270	LAGE3	OMIM:301006
HP:0002493	Upper motor neuron dysfunction	56978	PRDM8	OMIM:616640
HP:0002493	Upper motor neuron dysfunction	51501	HIKESHI	OMIM:616881
HP:0002493	Upper motor neuron dysfunction	81689	ISCA1	OMIM:617613
HP:0002493	Upper motor neuron dysfunction	22948	CCT5	ORPHA:139578
HP:0002493	Upper motor neuron dysfunction	51002	TPRKB	OMIM:617731
HP:0002493	Upper motor neuron dysfunction	56270	WDR45B	OMIM:617977
HP:0002493	Upper motor neuron dysfunction	7305	TYROBP	ORPHA:2770
HP:0002493	Upper motor neuron dysfunction	7305	TYROBP	OMIM:221770
HP:0002493	Upper motor neuron dysfunction	22934	RPIA	OMIM:608611
HP:0002493	Upper motor neuron dysfunction	220296	HEPACAM	OMIM:604004
HP:0002493	Upper motor neuron dysfunction	23209	MLC1	OMIM:604004
HP:0002493	Upper motor neuron dysfunction	26503	SLC17A5	OMIM:604369
HP:0002493	Upper motor neuron dysfunction	10613	ERLIN1	OMIM:615681
HP:0002493	Upper motor neuron dysfunction	116461	TSEN15	ORPHA:2524
HP:0002493	Upper motor neuron dysfunction	79042	TSEN34	ORPHA:2524
HP:0002493	Upper motor neuron dysfunction	51091	SEPSECS	ORPHA:2524
HP:0002493	Upper motor neuron dysfunction	2893	GRIA4	OMIM:617864
HP:0002493	Upper motor neuron dysfunction	79867	TCTN2	OMIM:616654
HP:0002493	Upper motor neuron dysfunction	3832	KIF11	ORPHA:2526
HP:0002493	Upper motor neuron dysfunction	57570	TRMT5	OMIM:616539
HP:0002493	Upper motor neuron dysfunction	6509	SLC1A4	OMIM:616657
HP:0002493	Upper motor neuron dysfunction	6785	ELOVL4	OMIM:133190
HP:0002493	Upper motor neuron dysfunction	617	BCS1L	OMIM:124000
HP:0002493	Upper motor neuron dysfunction	84628	NTNG2	OMIM:618718
HP:0002493	Upper motor neuron dysfunction	3708	ITPR1	OMIM:606658
HP:0002493	Upper motor neuron dysfunction	9179	AP4M1	ORPHA:280763
HP:0002493	Upper motor neuron dysfunction	5621	PRNP	OMIM:137440
HP:0002493	Upper motor neuron dysfunction	10577	NPC2	OMIM:607625
HP:0002493	Upper motor neuron dysfunction	5873	RAB27A	OMIM:607624
HP:0002493	Upper motor neuron dysfunction	54888	NSUN2	OMIM:611091
HP:0002493	Upper motor neuron dysfunction	54802	TRIT1	OMIM:617873
HP:0002493	Upper motor neuron dysfunction	23545	ATP6V0A2	ORPHA:357074
HP:0002493	Upper motor neuron dysfunction	529	ATP6V1E1	ORPHA:357074
HP:0002493	Upper motor neuron dysfunction	84631	SLITRK2	OMIM:301107
HP:0002493	Upper motor neuron dysfunction	5538	PPT1	OMIM:256730
HP:0002493	Upper motor neuron dysfunction	5455	POU3F3	OMIM:618604
HP:0002493	Upper motor neuron dysfunction	4724	NDUFS4	OMIM:252010
HP:0002493	Upper motor neuron dysfunction	100151683	RNU4ATAC	ORPHA:2636
HP:0002493	Upper motor neuron dysfunction	9439	MED23	OMIM:614249
HP:0002493	Upper motor neuron dysfunction	22930	RAB3GAP1	ORPHA:2510
HP:0002493	Upper motor neuron dysfunction	25782	RAB3GAP2	ORPHA:2510
HP:0002493	Upper motor neuron dysfunction	22931	RAB18	ORPHA:2510
HP:0002493	Upper motor neuron dysfunction	128637	TBC1D20	ORPHA:2510
HP:0002493	Upper motor neuron dysfunction	1468	SLC25A10	OMIM:618972
HP:0002493	Upper motor neuron dysfunction	1968	EIF2S3	OMIM:300148
HP:0002493	Upper motor neuron dysfunction	8884	SLC5A6	OMIM:618973
HP:0002493	Upper motor neuron dysfunction	8803	SUCLA2	OMIM:612073
HP:0002493	Upper motor neuron dysfunction	4747	NEFL	OMIM:617882
HP:0002493	Upper motor neuron dysfunction	80169	CTC1	OMIM:612199
HP:0002493	Upper motor neuron dysfunction	10844	TUBGCP2	OMIM:618737
HP:0002493	Upper motor neuron dysfunction	4858	NOVA2	OMIM:618859
HP:0002493	Upper motor neuron dysfunction	547	KIF1A	OMIM:614255
HP:0002493	Upper motor neuron dysfunction	55753	OGDHL	OMIM:619701
HP:0002493	Upper motor neuron dysfunction	3119	HLA-DQB1	OMIM:126200
HP:0002493	Upper motor neuron dysfunction	3123	HLA-DRB1	OMIM:126200
HP:0002493	Upper motor neuron dysfunction	3912	LAMB1	OMIM:615191
HP:0002493	Upper motor neuron dysfunction	10973	ASCC3	OMIM:620700
HP:0002493	Upper motor neuron dysfunction	55182	RNF220	OMIM:619688
HP:0002493	Upper motor neuron dysfunction	518	ATP5MC3	OMIM:619681
HP:0002493	Upper motor neuron dysfunction	5077	PAX3	ORPHA:896
HP:0002493	Upper motor neuron dysfunction	5077	PAX3	OMIM:148820
HP:0002493	Upper motor neuron dysfunction	1130	LYST	ORPHA:167
HP:0002493	Upper motor neuron dysfunction	26154	ABCA12	OMIM:601277
HP:0002493	Upper motor neuron dysfunction	55656	INTS8	OMIM:618572
HP:0002493	Upper motor neuron dysfunction	267	AMFR	OMIM:620379
HP:0002493	Upper motor neuron dysfunction	137492	VPS37A	OMIM:614898
HP:0002493	Upper motor neuron dysfunction	5910	RAP1GDS1	OMIM:620655
HP:0002493	Upper motor neuron dysfunction	54880	BCOR	OMIM:309800
HP:0002493	Upper motor neuron dysfunction	8260	NAA10	OMIM:309800
HP:0002493	Upper motor neuron dysfunction	8050	PDHX	ORPHA:255182
HP:0002493	Upper motor neuron dysfunction	2316	FLNA	OMIM:300048
HP:0002493	Upper motor neuron dysfunction	3295	HSD17B4	OMIM:233400
HP:0002493	Upper motor neuron dysfunction	55250	ELP2	OMIM:617270
HP:0002493	Upper motor neuron dysfunction	4990	SIX6	OMIM:206900
HP:0002493	Upper motor neuron dysfunction	10075	HUWE1	OMIM:309590
HP:0002493	Upper motor neuron dysfunction	4572	MT-TQ	ORPHA:550
HP:0002493	Upper motor neuron dysfunction	4572	MT-TQ	OMIM:540000
HP:0002493	Upper motor neuron dysfunction	4512	MT-CO1	ORPHA:550
HP:0002493	Upper motor neuron dysfunction	4512	MT-CO1	OMIM:540000
HP:0002493	Upper motor neuron dysfunction	4513	MT-CO2	ORPHA:550
HP:0002493	Upper motor neuron dysfunction	4513	MT-CO2	OMIM:540000
HP:0002493	Upper motor neuron dysfunction	4514	MT-CO3	ORPHA:550
HP:0002493	Upper motor neuron dysfunction	4514	MT-CO3	OMIM:540000
HP:0002493	Upper motor neuron dysfunction	4574	MT-TS1	ORPHA:550
HP:0002493	Upper motor neuron dysfunction	4574	MT-TS1	OMIM:540000
HP:0002493	Upper motor neuron dysfunction	4575	MT-TS2	ORPHA:550
HP:0002493	Upper motor neuron dysfunction	4575	MT-TS2	OMIM:540000
HP:0002493	Upper motor neuron dysfunction	4564	MT-TH	ORPHA:550
HP:0002493	Upper motor neuron dysfunction	2982	GUCY1A1	OMIM:615750
HP:0002493	Upper motor neuron dysfunction	8314	BAP1	ORPHA:2495
HP:0002493	Upper motor neuron dysfunction	4771	NF2	ORPHA:2495
HP:0002493	Upper motor neuron dysfunction	4771	NF2	ORPHA:637
HP:0002493	Upper motor neuron dysfunction	84231	TRAF7	ORPHA:2495
HP:0002493	Upper motor neuron dysfunction	6608	SMO	ORPHA:2495
HP:0002493	Upper motor neuron dysfunction	207	AKT1	ORPHA:2495
HP:0002493	Upper motor neuron dysfunction	7015	TERT	ORPHA:2495
HP:0002493	Upper motor neuron dysfunction	51684	SUFU	ORPHA:2495
HP:0002493	Upper motor neuron dysfunction	6605	SMARCE1	ORPHA:2495
HP:0002493	Upper motor neuron dysfunction	7174	TPP2	ORPHA:444463
HP:0002493	Upper motor neuron dysfunction	51816	ADA2	ORPHA:820
HP:0002493	Upper motor neuron dysfunction	8405	SPOP	OMIM:618829
HP:0002493	Upper motor neuron dysfunction	2776	GNAQ	ORPHA:624
HP:0002493	Upper motor neuron dysfunction	1630	DCC	OMIM:617542
HP:0002493	Upper motor neuron dysfunction	50485	SMARCAL1	ORPHA:1830
HP:0002493	Upper motor neuron dysfunction	347733	TUBB2B	OMIM:610031
HP:0002493	Upper motor neuron dysfunction	347733	TUBB2B	ORPHA:300573
HP:0002493	Upper motor neuron dysfunction	2475	MTOR	ORPHA:99802
HP:0002493	Upper motor neuron dysfunction	2475	MTOR	OMIM:607341
HP:0002493	Upper motor neuron dysfunction	10000	AKT3	ORPHA:99802
HP:0002493	Upper motor neuron dysfunction	10551	AGR2	OMIM:620233
HP:0002493	Upper motor neuron dysfunction	3516	RBPJ	ORPHA:974
HP:0002493	Upper motor neuron dysfunction	4851	NOTCH1	ORPHA:974
HP:0002493	Upper motor neuron dysfunction	57514	ARHGAP31	ORPHA:974
HP:0002493	Upper motor neuron dysfunction	57572	DOCK6	ORPHA:974
HP:0002493	Upper motor neuron dysfunction	285203	EOGT	ORPHA:974
HP:0002493	Upper motor neuron dysfunction	54567	DLL4	ORPHA:974
HP:0002493	Upper motor neuron dysfunction	4519	MT-CYB	OMIM:540000
HP:0002493	Upper motor neuron dysfunction	4511	MT-TC	OMIM:540000
HP:0002493	Upper motor neuron dysfunction	23221	RHOBTB2	OMIM:618004
HP:0002493	Upper motor neuron dysfunction	9692	PRORP	OMIM:619737
HP:0002493	Upper motor neuron dysfunction	340665	CYP26C1	ORPHA:398189
HP:0002493	Upper motor neuron dysfunction	55107	ANO1	OMIM:620687
HP:0002493	Upper motor neuron dysfunction	3431	SP110	ORPHA:79124
HP:0002493	Upper motor neuron dysfunction	3265	HRAS	ORPHA:2874
HP:0002493	Upper motor neuron dysfunction	7248	TSC1	OMIM:607341
HP:0002493	Upper motor neuron dysfunction	7249	TSC2	OMIM:607341
HP:0002493	Upper motor neuron dysfunction	6899	TBX1	OMIM:188400
HP:0002493	Upper motor neuron dysfunction	7098	TLR3	OMIM:613002
HP:0002493	Upper motor neuron dysfunction	10878	CFHR3	OMIM:235400
HP:0002493	Upper motor neuron dysfunction	3075	CFH	OMIM:235400
HP:0002493	Upper motor neuron dysfunction	3078	CFHR1	OMIM:235400
HP:0002493	Upper motor neuron dysfunction	55901	THSD1	ORPHA:231160
HP:0002493	Upper motor neuron dysfunction	7049	TGFBR3	ORPHA:231160
HP:0002493	Upper motor neuron dysfunction	1281	COL3A1	ORPHA:231160
HP:0002493	Upper motor neuron dysfunction	83854	ANGPTL6	ORPHA:231160
HP:0002493	Upper motor neuron dysfunction	2022	ENG	ORPHA:231160
HP:0002493	Upper motor neuron dysfunction	84065	TMEM222	OMIM:619470
HP:0002493	Upper motor neuron dysfunction	10617	STAMBP	OMIM:614261
HP:0002493	Upper motor neuron dysfunction	51399	TRAPPC4	OMIM:618741
HP:0002493	Upper motor neuron dysfunction	6659	SOX4	OMIM:618506
HP:0002493	Upper motor neuron dysfunction	7355	SLC35A2	ORPHA:356961
HP:0002493	Upper motor neuron dysfunction	6571	SLC18A2	ORPHA:352649
HP:0002493	Upper motor neuron dysfunction	51601	LIPT1	OMIM:616299
HP:0002493	Upper motor neuron dysfunction	387787	LIPT2	OMIM:617668
HP:0002493	Upper motor neuron dysfunction	4010	LMX1B	ORPHA:495818
HP:0002493	Upper motor neuron dysfunction	498	ATP5F1A	OMIM:620358
HP:0002493	Upper motor neuron dysfunction	56246	MRAP	OMIM:607398
HP:0002493	Upper motor neuron dysfunction	2192	FBLN1	ORPHA:404451
HP:0002493	Upper motor neuron dysfunction	284403	WDR62	OMIM:604317
HP:0002493	Upper motor neuron dysfunction	2937	GSS	OMIM:266130
HP:0002493	Upper motor neuron dysfunction	3899	AFF3	OMIM:619297
HP:0002493	Upper motor neuron dysfunction	29960	MRM2	OMIM:618567
HP:0002493	Upper motor neuron dysfunction	10195	ALG3	ORPHA:79321
HP:0002493	Upper motor neuron dysfunction	10195	ALG3	OMIM:601110
HP:0002493	Upper motor neuron dysfunction	29968	PSAT1	ORPHA:284417
HP:0002493	Upper motor neuron dysfunction	58497	PRUNE1	OMIM:617481
HP:0002493	Upper motor neuron dysfunction	58497	PRUNE1	ORPHA:544469
HP:0002493	Upper motor neuron dysfunction	221692	PHACTR1	OMIM:618298
HP:0002493	Upper motor neuron dysfunction	3785	KCNQ2	OMIM:613720
HP:0002493	Upper motor neuron dysfunction	54808	DYM	ORPHA:239
HP:0002493	Upper motor neuron dysfunction	9361	LONP1	OMIM:600373
HP:0002493	Upper motor neuron dysfunction	1183	CLCN4	OMIM:300114
HP:0002493	Upper motor neuron dysfunction	1183	CLCN4	ORPHA:485350
HP:0002493	Upper motor neuron dysfunction	1355	COX15	OMIM:615119
HP:0002493	Upper motor neuron dysfunction	23314	SATB2	ORPHA:251028
HP:0002493	Upper motor neuron dysfunction	775	CACNA1C	OMIM:620029
HP:0002493	Upper motor neuron dysfunction	1161	ERCC8	ORPHA:90321
HP:0002493	Upper motor neuron dysfunction	1161	ERCC8	ORPHA:90322
HP:0002493	Upper motor neuron dysfunction	2067	ERCC1	ORPHA:90322
HP:0002493	Upper motor neuron dysfunction	27102	EIF2AK1	OMIM:618878
HP:0002493	Upper motor neuron dysfunction	816	CAMK2B	OMIM:617799
HP:0002493	Upper motor neuron dysfunction	9675	TTI1	OMIM:620445
HP:0002493	Upper motor neuron dysfunction	4361	MRE11	OMIM:604391
HP:0002493	Upper motor neuron dysfunction	112476	PRRT2	ORPHA:98811
HP:0002493	Upper motor neuron dysfunction	9354	UBE4A	OMIM:619639
HP:0002493	Upper motor neuron dysfunction	79759	ZNF668	OMIM:620194
HP:0002493	Upper motor neuron dysfunction	79796	ALG9	ORPHA:79328
HP:0002493	Upper motor neuron dysfunction	57459	GATAD2B	ORPHA:363686
HP:0002493	Upper motor neuron dysfunction	9338	TCEAL1	OMIM:301094
HP:0002493	Upper motor neuron dysfunction	2593	GAMT	OMIM:612736
HP:0002493	Upper motor neuron dysfunction	60	ACTB	OMIM:620475
HP:0002493	Upper motor neuron dysfunction	131118	DNAJC19	ORPHA:66634
HP:0002493	Upper motor neuron dysfunction	85021	REPS1	OMIM:617916
HP:0002493	Upper motor neuron dysfunction	84274	COQ5	OMIM:619028
HP:0002493	Upper motor neuron dysfunction	51763	INPP5K	OMIM:617404
HP:0002493	Upper motor neuron dysfunction	8625	RFXANK	OMIM:620815
HP:0002493	Upper motor neuron dysfunction	51062	ATL1	ORPHA:100984
HP:0002493	Upper motor neuron dysfunction	51062	ATL1	OMIM:182600
HP:0002493	Upper motor neuron dysfunction	9897	WASHC5	ORPHA:100989
HP:0002493	Upper motor neuron dysfunction	9897	WASHC5	OMIM:603563
HP:0002493	Upper motor neuron dysfunction	324	APC	ORPHA:261584
HP:0002493	Upper motor neuron dysfunction	123606	NIPA1	OMIM:600363
HP:0002493	Upper motor neuron dysfunction	57156	TMEM63C	OMIM:619966
HP:0002493	Upper motor neuron dysfunction	9197	SLC33A1	OMIM:612539
HP:0002493	Upper motor neuron dysfunction	9197	SLC33A1	ORPHA:171863
HP:0002493	Upper motor neuron dysfunction	65055	REEP1	ORPHA:101011
HP:0002493	Upper motor neuron dysfunction	65055	REEP1	OMIM:610250
HP:0002493	Upper motor neuron dysfunction	11145	PLAAT3	OMIM:620683
HP:0002493	Upper motor neuron dysfunction	25778	DSTYK	ORPHA:101003
HP:0002493	Upper motor neuron dysfunction	9420	CYP7B1	OMIM:270800
HP:0002493	Upper motor neuron dysfunction	57599	WDR48	ORPHA:401800
HP:0002493	Upper motor neuron dysfunction	80821	DDHD1	ORPHA:101008
HP:0002493	Upper motor neuron dysfunction	9907	AP5Z1	OMIM:613647
HP:0002493	Upper motor neuron dysfunction	9907	AP5Z1	ORPHA:306511
HP:0002493	Upper motor neuron dysfunction	9895	TECPR2	OMIM:615031
HP:0002493	Upper motor neuron dysfunction	340075	ARSI	ORPHA:401815
HP:0002493	Upper motor neuron dysfunction	57498	KIDINS220	OMIM:617296
HP:0002493	Upper motor neuron dysfunction	84879	MFSD2A	OMIM:616486
HP:0002493	Upper motor neuron dysfunction	80232	WDR26	OMIM:617616
HP:0002493	Upper motor neuron dysfunction	22978	NT5C2	ORPHA:320396
HP:0002493	Upper motor neuron dysfunction	22978	NT5C2	OMIM:613162
HP:0002493	Upper motor neuron dysfunction	6472	SHMT2	OMIM:619121
HP:0002493	Upper motor neuron dysfunction	6253	RTN2	OMIM:604805
HP:0002493	Upper motor neuron dysfunction	6253	RTN2	ORPHA:100993
HP:0002493	Upper motor neuron dysfunction	79971	WLS	OMIM:619648
HP:0002493	Upper motor neuron dysfunction	9101	USP8	ORPHA:401795
HP:0002493	Upper motor neuron dysfunction	3739	KCNA4	OMIM:618284
HP:0002493	Upper motor neuron dysfunction	383	ARG1	OMIM:207800
HP:0002493	Upper motor neuron dysfunction	23259	DDHD2	ORPHA:320380
HP:0002493	Upper motor neuron dysfunction	6843	VAMP1	ORPHA:251282
HP:0002493	Upper motor neuron dysfunction	51663	ZFR	ORPHA:401840
HP:0002493	Upper motor neuron dysfunction	51271	UBAP1	ORPHA:100993
HP:0002493	Upper motor neuron dysfunction	126129	CPT1C	ORPHA:444099
HP:0002493	Upper motor neuron dysfunction	3839	KPNA3	ORPHA:171612
HP:0002493	Upper motor neuron dysfunction	113612	CYP2U1	ORPHA:320411
HP:0002493	Upper motor neuron dysfunction	171546	SPTSSA	OMIM:620416
HP:0002493	Upper motor neuron dysfunction	2583	B4GALNT1	OMIM:609195
HP:0002493	Upper motor neuron dysfunction	10664	CTCF	OMIM:615502
HP:0002493	Upper motor neuron dysfunction	57165	GJC2	OMIM:613206
HP:0002493	Upper motor neuron dysfunction	2137	EXTL3	ORPHA:508533
HP:0002493	Upper motor neuron dysfunction	2137	EXTL3	OMIM:617425
HP:0002493	Upper motor neuron dysfunction	4702	NDUFA8	OMIM:619272
HP:0002493	Upper motor neuron dysfunction	3763	KCNJ6	ORPHA:435628
HP:0002493	Upper motor neuron dysfunction	3763	KCNJ6	OMIM:614098
HP:0002493	Upper motor neuron dysfunction	4337	MOCS1	OMIM:252150
HP:0002493	Upper motor neuron dysfunction	54820	NDE1	ORPHA:2177
HP:0002493	Upper motor neuron dysfunction	10280	SIGMAR1	ORPHA:300605
HP:0002493	Upper motor neuron dysfunction	10558	SPTLC1	ORPHA:300605
HP:0002493	Upper motor neuron dysfunction	55610	VPS50	OMIM:619685
HP:0002493	Upper motor neuron dysfunction	440138	ALG11	ORPHA:280071
HP:0002493	Upper motor neuron dysfunction	440138	ALG11	OMIM:613661
HP:0002493	Upper motor neuron dysfunction	10157	AASS	ORPHA:2203
HP:0002493	Upper motor neuron dysfunction	259266	ASPM	OMIM:608716
HP:0002493	Upper motor neuron dysfunction	5048	PAFAH1B1	ORPHA:95232
HP:0002493	Upper motor neuron dysfunction	2639	GCDH	OMIM:231670
HP:0002493	Upper motor neuron dysfunction	5805	PTS	ORPHA:13
HP:0002493	Upper motor neuron dysfunction	2898	GRIK2	OMIM:619580
HP:0002493	Upper motor neuron dysfunction	27247	NFU1	OMIM:605711
HP:0002493	Upper motor neuron dysfunction	79587	CARS2	OMIM:616672
HP:0002493	Upper motor neuron dysfunction	5332	PLCB4	OMIM:620458
HP:0002493	Upper motor neuron dysfunction	4338	MOCS2	OMIM:252160
HP:0002493	Upper motor neuron dysfunction	594	BCKDHB	OMIM:620698
HP:0002493	Upper motor neuron dysfunction	1629	DBT	OMIM:620699
HP:0002493	Upper motor neuron dysfunction	9244	CRLF1	OMIM:272430
HP:0002493	Upper motor neuron dysfunction	9900	SV2A	OMIM:620772
HP:0002493	Upper motor neuron dysfunction	6197	RPS6KA3	ORPHA:192
HP:0002493	Upper motor neuron dysfunction	129685	TAF8	OMIM:619972
HP:0002493	Upper motor neuron dysfunction	10943	MSL3	OMIM:301032
HP:0002493	Upper motor neuron dysfunction	57688	ZSWIM6	OMIM:617865
HP:0002493	Upper motor neuron dysfunction	3094	HINT1	ORPHA:324442
HP:0002493	Upper motor neuron dysfunction	51728	POLR3K	OMIM:619310
HP:0002493	Upper motor neuron dysfunction	10564	ARFGEF2	OMIM:608097
HP:0002493	Upper motor neuron dysfunction	4038	LRP4	OMIM:614305
HP:0002493	Upper motor neuron dysfunction	128240	NAXE	OMIM:617186
HP:0002493	Upper motor neuron dysfunction	4722	NDUFS3	OMIM:618230
HP:0002493	Upper motor neuron dysfunction	1757	SARDH	ORPHA:3129
HP:0002493	Upper motor neuron dysfunction	55679	LIMS2	OMIM:616827
HP:0002493	Upper motor neuron dysfunction	5498	PPOX	ORPHA:79473
HP:0002493	Upper motor neuron dysfunction	760	CA2	ORPHA:2785
HP:0002493	Upper motor neuron dysfunction	6331	SCN5A	ORPHA:1344
HP:0002493	Upper motor neuron dysfunction	4878	NPPA	ORPHA:1344
HP:0002493	Upper motor neuron dysfunction	6696	SPP1	ORPHA:93552
HP:0002493	Upper motor neuron dysfunction	6303	SAT1	ORPHA:93552
HP:0002493	Upper motor neuron dysfunction	3654	IRAK1	ORPHA:93552
HP:0002493	Upper motor neuron dysfunction	1493	CTLA4	ORPHA:900
HP:0002493	Upper motor neuron dysfunction	26191	PTPN22	ORPHA:900
HP:0002493	Upper motor neuron dysfunction	3115	HLA-DPB1	ORPHA:900
HP:0002493	Upper motor neuron dysfunction	5657	PRTN3	ORPHA:900
HP:0002493	Upper motor neuron dysfunction	3113	HLA-DPA1	ORPHA:900
HP:0002493	Upper motor neuron dysfunction	6821	SUOX	OMIM:272300
HP:0002493	Upper motor neuron dysfunction	5551	PRF1	OMIM:603553
HP:0002493	Upper motor neuron dysfunction	81704	DOCK8	OMIM:243700
HP:0002493	Upper motor neuron dysfunction	2782	GNB1	OMIM:616973
HP:0002493	Upper motor neuron dysfunction	5053	PAH	ORPHA:79254
HP:0002493	Upper motor neuron dysfunction	84265	POLR3GL	OMIM:619234
HP:0002493	Upper motor neuron dysfunction	55532	SLC30A10	ORPHA:309854
HP:0002493	Upper motor neuron dysfunction	55532	SLC30A10	OMIM:613280
HP:0002493	Upper motor neuron dysfunction	440193	CCDC88C	OMIM:616053
HP:0002493	Upper motor neuron dysfunction	440193	CCDC88C	ORPHA:423275
HP:0002493	Upper motor neuron dysfunction	1910	EDNRB	OMIM:277580
HP:0002493	Upper motor neuron dysfunction	11152	WDR45	ORPHA:329284
HP:0002493	Upper motor neuron dysfunction	11152	WDR45	OMIM:300894
HP:0002493	Upper motor neuron dysfunction	93587	TRMT10A	ORPHA:391408
HP:0002493	Upper motor neuron dysfunction	686	BTD	ORPHA:79241
HP:0002493	Upper motor neuron dysfunction	23389	MED13L	ORPHA:369891
HP:0002493	Upper motor neuron dysfunction	203228	C9orf72	OMIM:105550
HP:0002493	Upper motor neuron dysfunction	4763	NF1	OMIM:162210
HP:0002493	Upper motor neuron dysfunction	8792	TNFRSF11A	OMIM:602080
HP:0002493	Upper motor neuron dysfunction	514	ATP5F1E	ORPHA:254913
HP:0002493	Upper motor neuron dysfunction	513	ATP5F1D	ORPHA:254913
HP:0002493	Upper motor neuron dysfunction	84833	ATP5MK	ORPHA:254913
HP:0002493	Upper motor neuron dysfunction	91647	ATPAF2	ORPHA:254913
HP:0002493	Upper motor neuron dysfunction	22845	DOLK	OMIM:610768
HP:0002493	Upper motor neuron dysfunction	100134444	KCNJ18	ORPHA:79102
HP:0002493	Upper motor neuron dysfunction	2556	GABRA3	ORPHA:79102
HP:0002493	Upper motor neuron dysfunction	779	CACNA1S	ORPHA:79102
HP:0002493	Upper motor neuron dysfunction	701	BUB1B	OMIM:257300
HP:0002493	Upper motor neuron dysfunction	6770	STAR	ORPHA:361
HP:0002493	Upper motor neuron dysfunction	4158	MC2R	ORPHA:361
HP:0002493	Upper motor neuron dysfunction	23530	NNT	ORPHA:361
HP:0002493	Upper motor neuron dysfunction	10587	TXNRD2	ORPHA:361
HP:0002493	Upper motor neuron dysfunction	374354	NHLRC2	OMIM:618278
HP:0002493	Upper motor neuron dysfunction	51693	TRAPPC2L	OMIM:618331
HP:0002493	Upper motor neuron dysfunction	1806	DPYD	OMIM:274270
HP:0002493	Upper motor neuron dysfunction	87178	PNPT1	ORPHA:101111
HP:0002493	Upper motor neuron dysfunction	55775	TDP1	ORPHA:94124
HP:0002493	Upper motor neuron dysfunction	2705	GJB1	ORPHA:1175
HP:0002493	Upper motor neuron dysfunction	492	ATP2B3	ORPHA:314978
HP:0002493	Upper motor neuron dysfunction	6329	SCN4A	ORPHA:99734
HP:0002493	Upper motor neuron dysfunction	85465	SELENOI	ORPHA:506353
HP:0002493	Upper motor neuron dysfunction	4524	MTHFR	ORPHA:395
HP:0002493	Upper motor neuron dysfunction	80025	PANK2	ORPHA:216873
HP:0002493	Upper motor neuron dysfunction	23345	SYNE1	ORPHA:88644
HP:0002493	Upper motor neuron dysfunction	55157	DARS2	ORPHA:137898
HP:0002493	Upper motor neuron dysfunction	4287	ATXN3	ORPHA:276244
HP:0002493	Upper motor neuron dysfunction	4287	ATXN3	ORPHA:276241
HP:0002493	Upper motor neuron dysfunction	4287	ATXN3	ORPHA:276238
HP:0002493	Upper motor neuron dysfunction	5832	ALDH18A1	ORPHA:447757
HP:0002493	Upper motor neuron dysfunction	55187	VPS13D	ORPHA:95434
HP:0002493	Upper motor neuron dysfunction	27072	VPS41	ORPHA:95434
HP:0002493	Upper motor neuron dysfunction	11128	POLR3A	ORPHA:447896
HP:0002493	Upper motor neuron dysfunction	4547	MTTP	ORPHA:14
HP:0002493	Upper motor neuron dysfunction	1513	CTSK	ORPHA:763
HP:0002493	Upper motor neuron dysfunction	2581	GALC	ORPHA:206443
HP:0002493	Upper motor neuron dysfunction	2581	GALC	ORPHA:206448
HP:0002493	Upper motor neuron dysfunction	6687	SPG7	ORPHA:35689
HP:0002493	Upper motor neuron dysfunction	6712	SPTBN2	OMIM:600224
HP:0002493	Upper motor neuron dysfunction	3798	KIF5A	ORPHA:100991
HP:0002493	Upper motor neuron dysfunction	54828	BCAS3	OMIM:619641
HP:0002493	Upper motor neuron dysfunction	79152	FA2H	ORPHA:329308
HP:0002493	Upper motor neuron dysfunction	3074	HEXB	OMIM:268800
HP:0002493	Upper motor neuron dysfunction	23400	ATP13A2	ORPHA:306674
HP:0002493	Upper motor neuron dysfunction	443	ASPA	ORPHA:314918
HP:0002493	Upper motor neuron dysfunction	22880	MORC2	ORPHA:466768
HP:0002493	Upper motor neuron dysfunction	55131	RBM28	OMIM:612079
HP:0002493	Upper motor neuron dysfunction	25978	CHMP2B	ORPHA:275864
HP:0002493	Upper motor neuron dysfunction	5663	PSEN1	ORPHA:275864
HP:0002493	Upper motor neuron dysfunction	2896	GRN	ORPHA:275864
HP:0002493	Upper motor neuron dysfunction	54664	TMEM106B	ORPHA:275864
HP:0002493	Upper motor neuron dysfunction	8878	SQSTM1	ORPHA:275864
HP:0002493	Upper motor neuron dysfunction	4137	MAPT	ORPHA:275864
HP:0002493	Upper motor neuron dysfunction	54209	TREM2	ORPHA:275864
HP:0002493	Upper motor neuron dysfunction	7415	VCP	ORPHA:275864
HP:0002493	Upper motor neuron dysfunction	7415	VCP	ORPHA:52430
HP:0002493	Upper motor neuron dysfunction	9896	FIG4	OMIM:612577
HP:0002493	Upper motor neuron dysfunction	400916	CHCHD10	ORPHA:276435
HP:0002493	Upper motor neuron dysfunction	3897	L1CAM	ORPHA:306617
HP:0002493	Upper motor neuron dysfunction	4001	LMNB1	ORPHA:99027
HP:0002493	Upper motor neuron dysfunction	26278	SACS	OMIM:270550
HP:0002493	Upper motor neuron dysfunction	3178	HNRNPA1	ORPHA:52430
HP:0002493	Upper motor neuron dysfunction	3181	HNRNPA2B1	ORPHA:52430
HP:0002493	Upper motor neuron dysfunction	8496	PPFIBP1	OMIM:620024
HP:0002493	Upper motor neuron dysfunction	56945	MRPS22	OMIM:611719
HP:0002493	Upper motor neuron dysfunction	80347	COASY	OMIM:615643
HP:0002493	Upper motor neuron dysfunction	29078	NDUFAF4	OMIM:618237
HP:0002493	Upper motor neuron dysfunction	79709	COLGALT1	OMIM:618360
HP:0002493	Upper motor neuron dysfunction	535	ATP6V0A1	OMIM:619971
HP:0002493	Upper motor neuron dysfunction	22796	COG2	OMIM:617395
HP:0002493	Upper motor neuron dysfunction	22796	COG2	ORPHA:435934
HP:0002493	Upper motor neuron dysfunction	100131801	PET100	OMIM:619055
HP:0002493	Upper motor neuron dysfunction	7283	TUBG1	OMIM:615412
HP:0002493	Upper motor neuron dysfunction	10352	WARS2	OMIM:617710
HP:0002493	Upper motor neuron dysfunction	10352	WARS2	ORPHA:572798
HP:0002493	Upper motor neuron dysfunction	1778	DYNC1H1	OMIM:614563
HP:0002493	Upper motor neuron dysfunction	3796	KIF2A	OMIM:615411
HP:0002493	Upper motor neuron dysfunction	170825	GSX2	OMIM:618646
HP:0002493	Upper motor neuron dysfunction	22872	SEC31A	OMIM:618651
HP:0002493	Upper motor neuron dysfunction	1193	CLIC2	ORPHA:324410
HP:0002493	Upper motor neuron dysfunction	59336	PRDM13	OMIM:619909
HP:0002493	Upper motor neuron dysfunction	11019	LIAS	OMIM:614462
HP:0002493	Upper motor neuron dysfunction	5700	PSMC1	OMIM:620071
HP:0002493	Upper motor neuron dysfunction	3800	KIF5C	OMIM:615282
HP:0002493	Upper motor neuron dysfunction	10297	APC2	OMIM:618677
HP:0002493	Upper motor neuron dysfunction	55164	SHQ1	OMIM:619922
HP:0002493	Upper motor neuron dysfunction	55739	NAXD	OMIM:618321
HP:0002493	Upper motor neuron dysfunction	440	ASNS	OMIM:615574
HP:0002493	Upper motor neuron dysfunction	777	CACNA1E	OMIM:618285
HP:0002493	Upper motor neuron dysfunction	1284	COL4A2	OMIM:614483
HP:0002493	Upper motor neuron dysfunction	2806	GOT2	OMIM:618721
HP:0002493	Upper motor neuron dysfunction	51294	PCDH12	OMIM:251280
HP:0002493	Upper motor neuron dysfunction	23189	KANK1	OMIM:612900
HP:0002493	Upper motor neuron dysfunction	2055	CLN8	ORPHA:1947
HP:0002493	Upper motor neuron dysfunction	28962	OSTM1	OMIM:259720
HP:0002493	Upper motor neuron dysfunction	51645	PPIL1	OMIM:619301
HP:0002493	Upper motor neuron dysfunction	51362	CDC40	OMIM:619302
HP:0002493	Upper motor neuron dysfunction	51075	TMX2	OMIM:618730
HP:0002493	Upper motor neuron dysfunction	1496	CTNNA2	OMIM:618174
HP:0002493	Upper motor neuron dysfunction	55770	EXOC2	OMIM:619306
HP:0002493	Upper motor neuron dysfunction	10695	CNPY3	OMIM:617929
HP:0002493	Upper motor neuron dysfunction	6515	SLC2A3	ORPHA:399
HP:0002493	Upper motor neuron dysfunction	26235	FBXL4	OMIM:615471
HP:0002493	Upper motor neuron dysfunction	23446	SLC44A1	OMIM:618868
HP:0002493	Upper motor neuron dysfunction	3145	HMBS	OMIM:620704
HP:0002493	Upper motor neuron dysfunction	2895	GRID2	OMIM:616204
HP:0002493	Upper motor neuron dysfunction	8722	CTSF	OMIM:615362
HP:0002493	Upper motor neuron dysfunction	1644	DDC	ORPHA:35708
HP:0002493	Upper motor neuron dysfunction	1644	DDC	OMIM:608643
HP:0002493	Upper motor neuron dysfunction	200205	IBA57	OMIM:616451
HP:0002493	Upper motor neuron dysfunction	200205	IBA57	ORPHA:468661
HP:0002493	Upper motor neuron dysfunction	10528	NOP56	OMIM:614153
HP:0002493	Upper motor neuron dysfunction	10528	NOP56	ORPHA:276198
HP:0002493	Upper motor neuron dysfunction	219285	SAMD9L	OMIM:159550
HP:0002493	Upper motor neuron dysfunction	219285	SAMD9L	OMIM:619806
HP:0002493	Upper motor neuron dysfunction	348	APOE	OMIM:607822
HP:0002493	Upper motor neuron dysfunction	7920	ABHD16A	OMIM:619735
HP:0002493	Upper motor neuron dysfunction	343641	TGM6	ORPHA:276193
HP:0002493	Upper motor neuron dysfunction	343641	TGM6	OMIM:613908
HP:0002493	Upper motor neuron dysfunction	857	CAV1	OMIM:606721
HP:0002493	Upper motor neuron dysfunction	55149	MTPAP	ORPHA:254343
HP:0002493	Upper motor neuron dysfunction	55149	MTPAP	OMIM:613672
HP:0002493	Upper motor neuron dysfunction	51604	PIGT	OMIM:615398
HP:0002493	Upper motor neuron dysfunction	54902	TTC19	OMIM:615157
HP:0002493	Upper motor neuron dysfunction	1615	DARS1	OMIM:615281
HP:0002493	Upper motor neuron dysfunction	9474	ATG5	OMIM:617584
HP:0002493	Upper motor neuron dysfunction	56652	TWNK	OMIM:271245
HP:0002493	Upper motor neuron dysfunction	56652	TWNK	OMIM:607459
HP:0002493	Upper motor neuron dysfunction	23299	BICD2	OMIM:615290
HP:0002493	Upper motor neuron dysfunction	5981	RFC1	ORPHA:504476
HP:0002493	Upper motor neuron dysfunction	5917	RARS1	OMIM:616140
HP:0002493	Upper motor neuron dysfunction	339855	KY	ORPHA:496689
HP:0002493	Upper motor neuron dysfunction	9725	TMEM63A	OMIM:618688
HP:0002493	Upper motor neuron dysfunction	10229	COQ7	OMIM:620402
HP:0002493	Upper motor neuron dysfunction	57192	MCOLN1	OMIM:252650
HP:0002493	Upper motor neuron dysfunction	54344	DPM3	ORPHA:263494
HP:0002493	Upper motor neuron dysfunction	55280	CWF19L1	ORPHA:453521
HP:0002493	Upper motor neuron dysfunction	4719	NDUFS1	OMIM:618226
HP:0002493	Upper motor neuron dysfunction	9256	TSPOAP1	ORPHA:101150
HP:0002493	Upper motor neuron dysfunction	9256	TSPOAP1	OMIM:620456
HP:0002493	Upper motor neuron dysfunction	7054	TH	ORPHA:101150
HP:0002493	Upper motor neuron dysfunction	5631	PRPS1	ORPHA:423479
HP:0002493	Upper motor neuron dysfunction	81790	RNF170	OMIM:619686
HP:0002493	Upper motor neuron dysfunction	81790	RNF170	OMIM:608984
HP:0002493	Upper motor neuron dysfunction	23114	NFASC	OMIM:618356
HP:0002493	Upper motor neuron dysfunction	8492	PRSS12	OMIM:249500
HP:0002493	Upper motor neuron dysfunction	157922	CAMSAP1	OMIM:620316
HP:0002493	Upper motor neuron dysfunction	5010	CLDN11	OMIM:619328
HP:0002493	Upper motor neuron dysfunction	5611	DNAJC3	OMIM:616192
HP:0002493	Upper motor neuron dysfunction	5611	DNAJC3	ORPHA:445062
HP:0002493	Upper motor neuron dysfunction	463	ZFHX3	OMIM:600223
HP:0002493	Upper motor neuron dysfunction	1200	TPP1	OMIM:609270
HP:0002493	Upper motor neuron dysfunction	1200	TPP1	ORPHA:284324
HP:0002493	Upper motor neuron dysfunction	29967	LRP12	OMIM:620452
HP:0002493	Upper motor neuron dysfunction	1938	EEF2	ORPHA:101112
HP:0002493	Upper motor neuron dysfunction	3032	HADHB	ORPHA:746
HP:0002493	Upper motor neuron dysfunction	3030	HADHA	ORPHA:746
HP:0002493	Upper motor neuron dysfunction	5375	PMP2	OMIM:618279
HP:0002493	Upper motor neuron dysfunction	5173	PDYN	ORPHA:101108
HP:0002493	Upper motor neuron dysfunction	5173	PDYN	OMIM:610245
HP:0002493	Upper motor neuron dysfunction	124454	EARS2	OMIM:614924
HP:0002493	Upper motor neuron dysfunction	54936	ADPRS	OMIM:618170
HP:0002493	Upper motor neuron dysfunction	84842	HPDL	OMIM:619027
HP:0002493	Upper motor neuron dysfunction	55129	ANO10	OMIM:613728
HP:0002493	Upper motor neuron dysfunction	9131	AIFM1	OMIM:300232
HP:0002493	Upper motor neuron dysfunction	9131	AIFM1	ORPHA:83629
HP:0002493	Upper motor neuron dysfunction	116228	COX20	OMIM:619054
HP:0002493	Upper motor neuron dysfunction	22	ABCB7	OMIM:301310
HP:0002493	Upper motor neuron dysfunction	100303755	PET117	OMIM:619063
HP:0002493	Upper motor neuron dysfunction	4697	NDUFA4	OMIM:619065
HP:0002493	Upper motor neuron dysfunction	144165	PRICKLE1	OMIM:612437
HP:0002493	Upper motor neuron dysfunction	5376	PMP22	ORPHA:3115
HP:0002493	Upper motor neuron dysfunction	4359	MPZ	ORPHA:3115
HP:0002493	Upper motor neuron dysfunction	1267	CNP	OMIM:619071
HP:0002493	Upper motor neuron dysfunction	64837	KLC2	OMIM:609541
HP:0002493	Upper motor neuron dysfunction	4556	MT-TE	ORPHA:2596
HP:0002493	Upper motor neuron dysfunction	1861	TOR1A	OMIM:128100
HP:0002493	Upper motor neuron dysfunction	2258	FGF13	OMIM:301058
HP:0002493	Upper motor neuron dysfunction	84679	SLC9A7	OMIM:301024
HP:0002493	Upper motor neuron dysfunction	1737	DLAT	ORPHA:79244
HP:0002493	Upper motor neuron dysfunction	128989	TANGO2	ORPHA:480864
HP:0002493	Upper motor neuron dysfunction	128989	TANGO2	OMIM:616878
HP:0002493	Upper motor neuron dysfunction	58494	JAM2	OMIM:618824
HP:0002493	Upper motor neuron dysfunction	4929	NR4A2	ORPHA:98808
HP:0002493	Upper motor neuron dysfunction	3615	IMPDH2	ORPHA:98808
HP:0002493	Upper motor neuron dysfunction	9215	LARGE1	OMIM:608840
HP:0002493	Upper motor neuron dysfunction	51	ACOX1	OMIM:264470
HP:0002493	Upper motor neuron dysfunction	22943	DKK1	ORPHA:268882
HP:0002493	Upper motor neuron dysfunction	8086	AAAS	OMIM:231550
HP:0002493	Upper motor neuron dysfunction	221927	BRAT1	OMIM:614498
HP:0002493	Upper motor neuron dysfunction	1374	CPT1A	ORPHA:156
HP:0002493	Upper motor neuron dysfunction	4594	MMUT	ORPHA:289916
HP:0002493	Upper motor neuron dysfunction	875	CBS	ORPHA:394
HP:0002493	Upper motor neuron dysfunction	3769	KCNJ13	ORPHA:65
HP:0002493	Upper motor neuron dysfunction	343035	RD3	ORPHA:65
HP:0002493	Upper motor neuron dysfunction	145226	RDH12	ORPHA:65
HP:0002493	Upper motor neuron dysfunction	1406	CRX	ORPHA:65
HP:0002493	Upper motor neuron dysfunction	64802	NMNAT1	ORPHA:65
HP:0002493	Upper motor neuron dysfunction	57096	RPGRIP1	ORPHA:65
HP:0002493	Upper motor neuron dysfunction	10383	TUBB4B	ORPHA:65
HP:0002493	Upper motor neuron dysfunction	9742	IFT140	ORPHA:65
HP:0002493	Upper motor neuron dysfunction	85015	USP45	ORPHA:65
HP:0002493	Upper motor neuron dysfunction	6121	RPE65	ORPHA:65
HP:0002493	Upper motor neuron dysfunction	23418	CRB1	ORPHA:65
HP:0002493	Upper motor neuron dysfunction	5130	PCYT1A	ORPHA:65
HP:0002493	Upper motor neuron dysfunction	9657	IQCB1	ORPHA:65
HP:0002493	Upper motor neuron dysfunction	392255	GDF6	ORPHA:65
HP:0002493	Upper motor neuron dysfunction	392255	GDF6	ORPHA:2345
HP:0002493	Upper motor neuron dysfunction	23746	AIPL1	ORPHA:65
HP:0002493	Upper motor neuron dysfunction	3000	GUCY2D	ORPHA:65
HP:0002493	Upper motor neuron dysfunction	9227	LRAT	ORPHA:65
HP:0002493	Upper motor neuron dysfunction	55812	SPATA7	ORPHA:65
HP:0002493	Upper motor neuron dysfunction	7287	TULP1	ORPHA:65
HP:0002493	Upper motor neuron dysfunction	167691	LCA5	ORPHA:65
HP:0002493	Upper motor neuron dysfunction	3614	IMPDH1	ORPHA:65
HP:0002493	Upper motor neuron dysfunction	7157	TP53	ORPHA:2807
HP:0002493	Upper motor neuron dysfunction	652	BMP4	ORPHA:828
HP:0002493	Upper motor neuron dysfunction	5590	PRKCZ	ORPHA:1606
HP:0002493	Upper motor neuron dysfunction	2563	GABRD	ORPHA:1606
HP:0002493	Upper motor neuron dysfunction	23013	SPEN	ORPHA:1606
HP:0002493	Upper motor neuron dysfunction	8510	MMP23B	ORPHA:1606
HP:0002493	Upper motor neuron dysfunction	7798	LUZP1	ORPHA:1606
HP:0002493	Upper motor neuron dysfunction	6497	SKI	ORPHA:1606
HP:0002493	Upper motor neuron dysfunction	10630	PDPN	ORPHA:1606
HP:0002493	Upper motor neuron dysfunction	3339	HSPG2	ORPHA:1606
HP:0002493	Upper motor neuron dysfunction	10277	UBE4B	ORPHA:1606
HP:0002493	Upper motor neuron dysfunction	8514	KCNAB2	ORPHA:1606
HP:0002493	Upper motor neuron dysfunction	473	RERE	ORPHA:1606
HP:0002493	Upper motor neuron dysfunction	63976	PRDM16	ORPHA:1606
HP:0002493	Upper motor neuron dysfunction	54897	CASZ1	ORPHA:1606
HP:0002493	Upper motor neuron dysfunction	1776	DNASE1L3	ORPHA:36412
HP:0002493	Upper motor neuron dysfunction	148789	B3GALNT2	ORPHA:588
HP:0002493	Upper motor neuron dysfunction	2218	FKTN	ORPHA:588
HP:0002493	Upper motor neuron dysfunction	729920	CRPPA	ORPHA:588
HP:0002493	Upper motor neuron dysfunction	6598	SMARCB1	ORPHA:99966
HP:0002493	Upper motor neuron dysfunction	54476	RNF216	ORPHA:1173
HP:0002493	Upper motor neuron dysfunction	4509	MT-ATP8	ORPHA:480
HP:0002493	Upper motor neuron dysfunction	9573	GDF3	ORPHA:2345
HP:0002493	Upper motor neuron dysfunction	4222	MEOX1	ORPHA:2345
HP:0002493	Upper motor neuron dysfunction	79693	YRDC	ORPHA:2065
HP:0002493	Upper motor neuron dysfunction	57122	NUP107	ORPHA:2065
HP:0002493	Upper motor neuron dysfunction	55746	NUP133	ORPHA:2065
HP:0002493	Upper motor neuron dysfunction	84520	GON7	ORPHA:2065
HP:0002493	Upper motor neuron dysfunction	128674	PROKR2	ORPHA:3157
HP:0002493	Upper motor neuron dysfunction	6657	SOX2	ORPHA:3157
HP:0002493	Upper motor neuron dysfunction	6658	SOX3	ORPHA:3157
HP:0002493	Upper motor neuron dysfunction	8820	HESX1	ORPHA:3157
HP:0002493	Upper motor neuron dysfunction	5015	OTX2	ORPHA:3157
HP:0002493	Upper motor neuron dysfunction	23769	FLRT1	ORPHA:320406
HP:0002493	Upper motor neuron dysfunction	6095	RORA	OMIM:618060
HP:0002493	Upper motor neuron dysfunction	10134	BCAP31	OMIM:300475
HP:0002493	Upper motor neuron dysfunction	10134	BCAP31	ORPHA:369939
HP:0002493	Upper motor neuron dysfunction	50484	RRM2B	ORPHA:329336
HP:0002493	Upper motor neuron dysfunction	246243	RNASEH1	ORPHA:329336
HP:0002493	Upper motor neuron dysfunction	246243	RNASEH1	OMIM:616479
HP:0002493	Upper motor neuron dysfunction	84334	COA8	ORPHA:436271
HP:0002493	Upper motor neuron dysfunction	123263	MTFMT	OMIM:614947
HP:0002493	Upper motor neuron dysfunction	5457	POU4F1	ORPHA:314647
HP:0002493	Upper motor neuron dysfunction	23261	CAMTA1	ORPHA:314647
HP:0002493	Upper motor neuron dysfunction	4072	EPCAM	ORPHA:144
HP:0002493	Upper motor neuron dysfunction	4292	MLH1	ORPHA:144
HP:0002493	Upper motor neuron dysfunction	5395	PMS2	ORPHA:144
HP:0002493	Upper motor neuron dysfunction	7048	TGFBR2	ORPHA:144
HP:0002493	Upper motor neuron dysfunction	5290	PIK3CA	ORPHA:144
HP:0002493	Upper motor neuron dysfunction	2956	MSH6	ORPHA:144
HP:0002493	Upper motor neuron dysfunction	5378	PMS1	ORPHA:144
HP:0002493	Upper motor neuron dysfunction	4436	MSH2	ORPHA:144
HP:0002493	Upper motor neuron dysfunction	6531	SLC6A3	ORPHA:238455
HP:0002493	Upper motor neuron dysfunction	6531	SLC6A3	OMIM:613135
HP:0002493	Upper motor neuron dysfunction	56997	COQ8A	ORPHA:139485
HP:0002493	Upper motor neuron dysfunction	56997	COQ8A	OMIM:612016
HP:0002493	Upper motor neuron dysfunction	64218	SEMA4A	ORPHA:440437
HP:0002493	Upper motor neuron dysfunction	5426	POLE	ORPHA:440437
HP:0002493	Upper motor neuron dysfunction	675	BRCA2	ORPHA:440437
HP:0002493	Upper motor neuron dysfunction	657	BMPR1A	ORPHA:440437
HP:0002493	Upper motor neuron dysfunction	6224	RPS20	ORPHA:440437
HP:0002493	Upper motor neuron dysfunction	4595	MUTYH	ORPHA:440437
HP:0002493	Upper motor neuron dysfunction	5424	POLD1	ORPHA:440437
HP:0002493	Upper motor neuron dysfunction	11200	CHEK2	ORPHA:440437
HP:0002493	Upper motor neuron dysfunction	57465	TBC1D24	ORPHA:352596
HP:0002493	Upper motor neuron dysfunction	23474	ETHE1	ORPHA:51188
HP:0002493	Upper motor neuron dysfunction	51204	TACO1	OMIM:619052
HP:0002493	Upper motor neuron dysfunction	8575	PRKRA	ORPHA:210571
HP:0002493	Upper motor neuron dysfunction	8575	PRKRA	OMIM:612067
HP:0002493	Upper motor neuron dysfunction	6575	SLC20A2	OMIM:213600
HP:0002493	Upper motor neuron dysfunction	5159	PDGFRB	OMIM:213600
HP:0002493	Upper motor neuron dysfunction	5155	PDGFB	OMIM:213600
HP:0002493	Upper motor neuron dysfunction	7274	TTPA	ORPHA:96
HP:0002493	Upper motor neuron dysfunction	27235	COQ2	ORPHA:98933
HP:0002493	Upper motor neuron dysfunction	27235	COQ2	ORPHA:227510
HP:0002493	Upper motor neuron dysfunction	3735	KARS1	OMIM:619196
HP:0002493	Upper motor neuron dysfunction	23533	PIK3R5	ORPHA:64753
HP:0002493	Upper motor neuron dysfunction	23064	SETX	ORPHA:64753
HP:0002493	Upper motor neuron dysfunction	23064	SETX	OMIM:606002
HP:0002493	Upper motor neuron dysfunction	23064	SETX	ORPHA:357043
HP:0002493	Upper motor neuron dysfunction	9255	AIMP1	OMIM:260600
HP:0002493	Upper motor neuron dysfunction	6507	SLC1A3	ORPHA:2131
HP:0002493	Upper motor neuron dysfunction	4191	MDH2	OMIM:617339
HP:0002493	Upper motor neuron dysfunction	146057	TTBK2	ORPHA:98767
HP:0002493	Upper motor neuron dysfunction	80704	SLC19A3	OMIM:607483
HP:0002493	Upper motor neuron dysfunction	5728	PTEN	ORPHA:101070
HP:0002493	Upper motor neuron dysfunction	5521	PPP2R2B	ORPHA:98762
HP:0002493	Upper motor neuron dysfunction	57462	MYORG	OMIM:618317
HP:0002493	Upper motor neuron dysfunction	3662	IRF4	ORPHA:3452
HP:0002493	Upper motor neuron dysfunction	200403	VWA3B	OMIM:616948
HP:0002493	Upper motor neuron dysfunction	1173	AP2M1	ORPHA:1942
HP:0002493	Upper motor neuron dysfunction	340533	NEXMIF	ORPHA:1942
HP:0002493	Upper motor neuron dysfunction	1106	CHD2	ORPHA:1942
HP:0002493	Upper motor neuron dysfunction	6529	SLC6A1	ORPHA:1942
HP:0002493	Upper motor neuron dysfunction	3329	HSPD1	ORPHA:100994
HP:0002493	Upper motor neuron dysfunction	3980	LIG3	OMIM:619780
HP:0002493	Upper motor neuron dysfunction	149233	IL23R	ORPHA:117
HP:0002493	Upper motor neuron dysfunction	6775	STAT4	ORPHA:117
HP:0002493	Upper motor neuron dysfunction	3586	IL10	ORPHA:117
HP:0002493	Upper motor neuron dysfunction	4210	MEFV	ORPHA:117
HP:0002493	Upper motor neuron dysfunction	1230	CCR1	ORPHA:117
HP:0002493	Upper motor neuron dysfunction	355	FAS	ORPHA:117
HP:0002493	Upper motor neuron dysfunction	3592	IL12A	ORPHA:117
HP:0002493	Upper motor neuron dysfunction	101928376	IL12A-AS1	ORPHA:117
HP:0002493	Upper motor neuron dysfunction	3106	HLA-B	ORPHA:117
HP:0002493	Upper motor neuron dysfunction	7099	TLR4	ORPHA:117
HP:0002493	Upper motor neuron dysfunction	3459	IFNGR1	ORPHA:117
HP:0002493	Upper motor neuron dysfunction	720	C4A	ORPHA:117
HP:0002493	Upper motor neuron dysfunction	337867	UBAC2	ORPHA:117
HP:0002493	Upper motor neuron dysfunction	51752	ERAP1	ORPHA:117
HP:0002493	Upper motor neuron dysfunction	8302	KLRC4	ORPHA:117
HP:0002493	Upper motor neuron dysfunction	374291	NDUFS7	OMIM:618224
HP:0002493	Upper motor neuron dysfunction	4720	NDUFS2	OMIM:618228
HP:0002493	Upper motor neuron dysfunction	79903	NAA60	OMIM:620786
HP:0002493	Upper motor neuron dysfunction	25814	ATXN10	OMIM:603516
HP:0002493	Upper motor neuron dysfunction	79868	ALG13	OMIM:300884
HP:0002493	Upper motor neuron dysfunction	79944	L2HGDH	OMIM:236792
HP:0002493	Upper motor neuron dysfunction	51079	NDUFA13	OMIM:618249
HP:0002493	Upper motor neuron dysfunction	54974	THG1L	OMIM:618800
HP:0002493	Upper motor neuron dysfunction	259232	NALCN	OMIM:615419
HP:0002493	Upper motor neuron dysfunction	84668	HYCC1	OMIM:610532
HP:0002493	Upper motor neuron dysfunction	84668	HYCC1	ORPHA:85163
HP:0002493	Upper motor neuron dysfunction	9150	CTDP1	ORPHA:48431
HP:0002493	Upper motor neuron dysfunction	35	ACADS	OMIM:201470
HP:0002493	Upper motor neuron dysfunction	57468	SLC12A5	OMIM:616645
HP:0002493	Upper motor neuron dysfunction	3425	IDUA	ORPHA:93473
HP:0002493	Upper motor neuron dysfunction	3425	IDUA	ORPHA:93476
HP:0002493	Upper motor neuron dysfunction	29925	GMPPB	ORPHA:370959
HP:0002493	Upper motor neuron dysfunction	79147	FKRP	ORPHA:370959
HP:0002493	Upper motor neuron dysfunction	29954	POMT2	ORPHA:370959
HP:0002493	Upper motor neuron dysfunction	84197	POMK	ORPHA:370959
HP:0002493	Upper motor neuron dysfunction	10585	POMT1	ORPHA:370959
HP:0002493	Upper motor neuron dysfunction	2760	GM2A	ORPHA:309246
HP:0002493	Upper motor neuron dysfunction	2760	GM2A	OMIM:272750
HP:0002493	Upper motor neuron dysfunction	5264	PHYH	ORPHA:773
HP:0002493	Upper motor neuron dysfunction	1807	DPYS	OMIM:222748
HP:0002493	Upper motor neuron dysfunction	9373	PLAA	OMIM:617527
HP:0002493	Upper motor neuron dysfunction	5080	PAX6	ORPHA:893
HP:0002493	Upper motor neuron dysfunction	7490	WT1	ORPHA:893
HP:0002493	Upper motor neuron dysfunction	627	BDNF	ORPHA:893
HP:0002493	Upper motor neuron dysfunction	10667	FARS2	ORPHA:466722
HP:0002493	Upper motor neuron dysfunction	54809	SAMD9	OMIM:617053
HP:0002493	Upper motor neuron dysfunction	162417	NAGS	ORPHA:927
HP:0002493	Upper motor neuron dysfunction	5921	RASA1	ORPHA:90307
HP:0002493	Upper motor neuron dysfunction	10371	SEMA3A	ORPHA:478
HP:0002493	Upper motor neuron dysfunction	81848	SPRY4	ORPHA:478
HP:0002493	Upper motor neuron dysfunction	23767	FLRT3	ORPHA:478
HP:0002493	Upper motor neuron dysfunction	79625	NDNF	ORPHA:478
HP:0002493	Upper motor neuron dysfunction	389549	FEZF1	ORPHA:478
HP:0002493	Upper motor neuron dysfunction	3730	ANOS1	ORPHA:478
HP:0002493	Upper motor neuron dysfunction	54756	IL17RD	ORPHA:478
HP:0002493	Upper motor neuron dysfunction	285025	CCDC141	ORPHA:478
HP:0002493	Upper motor neuron dysfunction	60675	PROK2	ORPHA:478
HP:0002493	Upper motor neuron dysfunction	55636	CHD7	ORPHA:478
HP:0002493	Upper motor neuron dysfunction	1848	DUSP6	ORPHA:478
HP:0002493	Upper motor neuron dysfunction	6870	TACR3	ORPHA:478
HP:0002493	Upper motor neuron dysfunction	55717	WDR11	ORPHA:478
HP:0002493	Upper motor neuron dysfunction	9394	HS6ST1	ORPHA:478
HP:0002493	Upper motor neuron dysfunction	8822	FGF17	ORPHA:478
HP:0002493	Upper motor neuron dysfunction	353116	RILPL1	ORPHA:98897
HP:0002493	Upper motor neuron dysfunction	10755	GIPC1	ORPHA:98897
HP:0002493	Upper motor neuron dysfunction	100996717	NOTCH2NLC	ORPHA:98897
HP:0002493	Upper motor neuron dysfunction	126792	B3GALT6	OMIM:271640
HP:0002493	Upper motor neuron dysfunction	587	BCAT2	OMIM:618850
HP:0002493	Upper motor neuron dysfunction	197258	FCSK	OMIM:618324
HP:0002493	Upper motor neuron dysfunction	160418	TMTC3	OMIM:617255
HP:0002493	Upper motor neuron dysfunction	57282	SLC4A10	OMIM:620746
HP:0002493	Upper motor neuron dysfunction	819	CAMLG	OMIM:620201
HP:0002493	Upper motor neuron dysfunction	84081	NSRP1	OMIM:620001
HP:0002493	Upper motor neuron dysfunction	823	CAPN1	OMIM:616907
HP:0002493	Upper motor neuron dysfunction	51611	DPH5	OMIM:620070
HP:0002493	Upper motor neuron dysfunction	55331	ACER3	OMIM:617762
HP:0002493	Upper motor neuron dysfunction	1822	ATN1	OMIM:618494
HP:0002493	Upper motor neuron dysfunction	54676	GTPBP2	OMIM:617988
HP:0002493	Upper motor neuron dysfunction	79736	TEFM	OMIM:620451
HP:0002493	Upper motor neuron dysfunction	283450	HECTD4	OMIM:620250
HP:0002494	Abnormal rapid eye movement sleep	3060	HCRT	OMIM:161400
HP:0002494	Abnormal rapid eye movement sleep	3060	HCRT	ORPHA:2073
HP:0002494	Abnormal rapid eye movement sleep	1512	CTSH	ORPHA:2073
HP:0002494	Abnormal rapid eye movement sleep	5032	P2RY11	ORPHA:2073
HP:0002494	Abnormal rapid eye movement sleep	4340	MOG	ORPHA:2073
HP:0002494	Abnormal rapid eye movement sleep	3119	HLA-DQB1	ORPHA:2073
HP:0002494	Abnormal rapid eye movement sleep	22891	ZNF365	ORPHA:2073
HP:0002494	Abnormal rapid eye movement sleep	7292	TNFSF4	ORPHA:2073
HP:0002494	Abnormal rapid eye movement sleep	3123	HLA-DRB1	ORPHA:2073
HP:0002494	Abnormal rapid eye movement sleep	6492	SIM1	ORPHA:398079
HP:0002494	Abnormal rapid eye movement sleep	5981	RFC1	OMIM:614575
HP:0002494	Abnormal rapid eye movement sleep	54551	MAGEL2	ORPHA:398069
HP:0002494	Abnormal rapid eye movement sleep	27235	COQ2	ORPHA:227510
HP:0002494	Abnormal rapid eye movement sleep	27235	COQ2	ORPHA:98933
HP:0002494	Abnormal rapid eye movement sleep	1786	DNMT1	OMIM:604121
HP:0002494	Abnormal rapid eye movement sleep	4221	MEN1	ORPHA:97279
HP:0002494	Abnormal rapid eye movement sleep	7528	YY1	ORPHA:97279
HP:0002494	Abnormal rapid eye movement sleep	9881	TRANK1	ORPHA:33543
HP:0002494	Abnormal rapid eye movement sleep	5621	PRNP	ORPHA:466
HP:0002494	Abnormal rapid eye movement sleep	2314	FLII	ORPHA:819
HP:0002494	Abnormal rapid eye movement sleep	23096	IQSEC2	ORPHA:819
HP:0002494	Abnormal rapid eye movement sleep	10743	RAI1	ORPHA:819
HP:0002494	Abnormal rapid eye movement sleep	10522	DEAF1	ORPHA:819
HP:0002495	Impaired vibratory sensation	9897	WASHC5	OMIM:603563
HP:0002495	Impaired vibratory sensation	9897	WASHC5	ORPHA:100989
HP:0002495	Impaired vibratory sensation	23769	FLRT1	ORPHA:320406
HP:0002495	Impaired vibratory sensation	64837	KLC2	ORPHA:320406
HP:0002495	Impaired vibratory sensation	340075	ARSI	ORPHA:401815
HP:0002495	Impaired vibratory sensation	9197	SLC33A1	ORPHA:171863
HP:0002495	Impaired vibratory sensation	3094	HINT1	ORPHA:324442
HP:0002495	Impaired vibratory sensation	2643	GCH1	ORPHA:98808
HP:0002495	Impaired vibratory sensation	4929	NR4A2	ORPHA:98808
HP:0002495	Impaired vibratory sensation	3615	IMPDH2	ORPHA:98808
HP:0002495	Impaired vibratory sensation	7415	VCP	ORPHA:435387
HP:0002495	Impaired vibratory sensation	4508	MT-ATP6	ORPHA:320360
HP:0002495	Impaired vibratory sensation	11128	POLR3A	ORPHA:447896
HP:0002495	Impaired vibratory sensation	11160	ERLIN2	ORPHA:209951
HP:0002495	Impaired vibratory sensation	6687	SPG7	ORPHA:99013
HP:0002495	Impaired vibratory sensation	6687	SPG7	OMIM:607259
HP:0002495	Impaired vibratory sensation	55958	KLHL9	ORPHA:399081
HP:0002495	Impaired vibratory sensation	6253	RTN2	OMIM:604805
HP:0002495	Impaired vibratory sensation	6253	RTN2	ORPHA:100993
HP:0002495	Impaired vibratory sensation	5165	PDK3	ORPHA:352675
HP:0002495	Impaired vibratory sensation	3035	HARS1	ORPHA:488333
HP:0002495	Impaired vibratory sensation	80208	SPG11	OMIM:604360
HP:0002495	Impaired vibratory sensation	219285	SAMD9L	OMIM:159550
HP:0002495	Impaired vibratory sensation	28982	FLVCR1	ORPHA:88628
HP:0002495	Impaired vibratory sensation	28982	FLVCR1	OMIM:609033
HP:0002495	Impaired vibratory sensation	3329	HSPD1	OMIM:605280
HP:0002495	Impaired vibratory sensation	3329	HSPD1	ORPHA:100994
HP:0002495	Impaired vibratory sensation	55157	DARS2	ORPHA:137898
HP:0002495	Impaired vibratory sensation	5173	PDYN	OMIM:610245
HP:0002495	Impaired vibratory sensation	6683	SPAST	OMIM:182601
HP:0002495	Impaired vibratory sensation	5190	PEX6	ORPHA:95433
HP:0002495	Impaired vibratory sensation	6843	VAMP1	ORPHA:251282
HP:0002495	Impaired vibratory sensation	51271	UBAP1	ORPHA:100993
HP:0002495	Impaired vibratory sensation	126129	CPT1C	ORPHA:444099
HP:0002495	Impaired vibratory sensation	57599	WDR48	ORPHA:401800
HP:0002495	Impaired vibratory sensation	3839	KPNA3	ORPHA:171612
HP:0002495	Impaired vibratory sensation	9517	SPTLC2	OMIM:613640
HP:0002495	Impaired vibratory sensation	51308	REEP2	OMIM:615625
HP:0002495	Impaired vibratory sensation	3798	KIF5A	OMIM:604187
HP:0002495	Impaired vibratory sensation	51128	SAR1B	OMIM:246700
HP:0002495	Impaired vibratory sensation	51062	ATL1	ORPHA:100984
HP:0002495	Impaired vibratory sensation	9997	SCO2	OMIM:604377
HP:0002495	Impaired vibratory sensation	4287	ATXN3	OMIM:109150
HP:0002495	Impaired vibratory sensation	9420	CYP7B1	ORPHA:100986
HP:0002495	Impaired vibratory sensation	23345	SYNE1	ORPHA:88644
HP:0002495	Impaired vibratory sensation	123606	NIPA1	ORPHA:100988
HP:0002495	Impaired vibratory sensation	59335	PRDM12	OMIM:616488
HP:0002495	Impaired vibratory sensation	4744	NEFH	OMIM:616924
HP:0002495	Impaired vibratory sensation	2617	GARS1	ORPHA:139536
HP:0002495	Impaired vibratory sensation	26580	BSCL2	ORPHA:139536
HP:0002495	Impaired vibratory sensation	65055	REEP1	ORPHA:139536
HP:0002495	Impaired vibratory sensation	4803	NGF	OMIM:608654
HP:0002495	Impaired vibratory sensation	7345	UCHL1	OMIM:620221
HP:0002495	Impaired vibratory sensation	7345	UCHL1	OMIM:615491
HP:0002495	Impaired vibratory sensation	25894	PLEKHG4	ORPHA:98765
HP:0002495	Impaired vibratory sensation	5428	POLG	ORPHA:94125
HP:0002495	Impaired vibratory sensation	5428	POLG	ORPHA:70595
HP:0002495	Impaired vibratory sensation	56652	TWNK	ORPHA:70595
HP:0002495	Impaired vibratory sensation	724066	ATXN8	ORPHA:98760
HP:0002495	Impaired vibratory sensation	6315	ATXN8OS	ORPHA:98760
HP:0002495	Impaired vibratory sensation	81790	RNF170	OMIM:619686
HP:0002495	Impaired vibratory sensation	4669	NAGLU	OMIM:616491
HP:0002495	Impaired vibratory sensation	6311	ATXN2	OMIM:183090
HP:0002495	Impaired vibratory sensation	6652	SORD	OMIM:618912
HP:0002495	Impaired vibratory sensation	5192	PEX10	OMIM:614871
HP:0002495	Impaired vibratory sensation	22880	MORC2	ORPHA:466768
HP:0002495	Impaired vibratory sensation	23400	ATP13A2	OMIM:617225
HP:0002495	Impaired vibratory sensation	2259	FGF14	OMIM:193003
HP:0002495	Impaired vibratory sensation	146227	BEAN1	ORPHA:217012
HP:0002495	Impaired vibratory sensation	10166	SLC25A15	ORPHA:415
HP:0002495	Impaired vibratory sensation	10166	SLC25A15	OMIM:238970
HP:0002495	Impaired vibratory sensation	1200	TPP1	ORPHA:284324
HP:0002495	Impaired vibratory sensation	1200	TPP1	OMIM:609270
HP:0002495	Impaired vibratory sensation	137492	VPS37A	ORPHA:319199
HP:0002495	Impaired vibratory sensation	137492	VPS37A	OMIM:614898
HP:0002495	Impaired vibratory sensation	11284	PNKP	OMIM:616267
HP:0002495	Impaired vibratory sensation	2395	FXN	OMIM:229300
HP:0002495	Impaired vibratory sensation	2395	FXN	ORPHA:95
HP:0002495	Impaired vibratory sensation	6709	SPTAN1	OMIM:620528
HP:0002495	Impaired vibratory sensation	6709	SPTAN1	OMIM:620538
HP:0002495	Impaired vibratory sensation	9692	PRORP	OMIM:619737
HP:0002495	Impaired vibratory sensation	4099	MAG	ORPHA:459056
HP:0002495	Impaired vibratory sensation	4358	MPV17	OMIM:256810
HP:0002495	Impaired vibratory sensation	57704	GBA2	OMIM:614409
HP:0002495	Impaired vibratory sensation	4556	MT-TE	ORPHA:2596
HP:0002495	Impaired vibratory sensation	54332	GDAP1	ORPHA:101097
HP:0002495	Impaired vibratory sensation	5351	PLOD1	ORPHA:1900
HP:0002495	Impaired vibratory sensation	3098	HK1	ORPHA:99953
HP:0002495	Impaired vibratory sensation	5832	ALDH18A1	OMIM:601162
HP:0002495	Impaired vibratory sensation	4547	MTTP	ORPHA:14
HP:0002495	Impaired vibratory sensation	23111	SPART	ORPHA:101000
HP:0002495	Impaired vibratory sensation	26278	SACS	ORPHA:98
HP:0002495	Impaired vibratory sensation	6712	SPTBN2	OMIM:600224
HP:0002495	Impaired vibratory sensation	59345	GNB4	OMIM:615185
HP:0002495	Impaired vibratory sensation	5297	PI4KA	OMIM:619621
HP:0002495	Impaired vibratory sensation	23503	ZFYVE26	ORPHA:100996
HP:0002495	Impaired vibratory sensation	55775	TDP1	OMIM:607250
HP:0002495	Impaired vibratory sensation	5981	RFC1	OMIM:614575
HP:0002495	Impaired vibratory sensation	2583	B4GALNT1	OMIM:609195
HP:0002495	Impaired vibratory sensation	23230	VPS13A	ORPHA:2388
HP:0002495	Impaired vibratory sensation	2065	ERBB3	OMIM:243180
HP:0002495	Impaired vibratory sensation	6342	SCP2	OMIM:613724
HP:0002495	Impaired vibratory sensation	4747	NEFL	ORPHA:101085
HP:0002495	Impaired vibratory sensation	9927	MFN2	ORPHA:99947
HP:0002495	Impaired vibratory sensation	6310	ATXN1	OMIM:164400
HP:0002495	Impaired vibratory sensation	5376	PMP22	ORPHA:3115
HP:0002495	Impaired vibratory sensation	4359	MPZ	ORPHA:3115
HP:0002495	Impaired vibratory sensation	10456	HAX1	OMIM:610738
HP:0002495	Impaired vibratory sensation	91574	MTRFR	OMIM:615035
HP:0002495	Impaired vibratory sensation	182	JAG1	OMIM:619574
HP:0002495	Impaired vibratory sensation	7515	XRCC1	OMIM:617633
HP:0002495	Impaired vibratory sensation	57863	CADM3	OMIM:619519
HP:0002495	Impaired vibratory sensation	50717	DCAF8	OMIM:610100
HP:0002495	Impaired vibratory sensation	50846	DHH	OMIM:607080
HP:0002495	Impaired vibratory sensation	3748	KCNC3	ORPHA:98768
HP:0002495	Impaired vibratory sensation	3748	KCNC3	OMIM:605259
HP:0002495	Impaired vibratory sensation	10397	NDRG1	OMIM:601455
HP:0002495	Impaired vibratory sensation	2332	FMR1	OMIM:300623
HP:0002495	Impaired vibratory sensation	476	ATP1A1	OMIM:618036
HP:0002495	Impaired vibratory sensation	5375	PMP2	OMIM:618279
HP:0002495	Impaired vibratory sensation	55703	POLR3B	OMIM:619742
HP:0002495	Impaired vibratory sensation	8566	PDXK	OMIM:618511
HP:0002495	Impaired vibratory sensation	547	KIF1A	OMIM:614213
HP:0002495	Impaired vibratory sensation	55526	DHTKD1	OMIM:615025
HP:0002495	Impaired vibratory sensation	79628	SH3TC2	ORPHA:99949
HP:0002495	Impaired vibratory sensation	54840	APTX	OMIM:208920
HP:0002495	Impaired vibratory sensation	400916	CHCHD10	ORPHA:276435
HP:0002495	Impaired vibratory sensation	90678	LRSAM1	OMIM:614436
HP:0002495	Impaired vibratory sensation	11261	CHP1	OMIM:618438
HP:0002495	Impaired vibratory sensation	23064	SETX	OMIM:606002
HP:0002495	Impaired vibratory sensation	1959	EGR2	OMIM:145900
HP:0002495	Impaired vibratory sensation	57716	PRX	OMIM:145900
HP:0002495	Impaired vibratory sensation	4001	LMNB1	ORPHA:99027
HP:0002495	Impaired vibratory sensation	3752	KCND3	ORPHA:98772
HP:0002495	Impaired vibratory sensation	215	ABCD1	OMIM:300100
HP:0002495	Impaired vibratory sensation	7504	XK	OMIM:300842
HP:0002495	Impaired vibratory sensation	8913	CACNA1G	ORPHA:458803
HP:0002495	Impaired vibratory sensation	8913	CACNA1G	OMIM:616795
HP:0002495	Impaired vibratory sensation	271	AMPD2	OMIM:615686
HP:0002495	Impaired vibratory sensation	5582	PRKCG	OMIM:605361
HP:0002495	Impaired vibratory sensation	87178	PNPT1	OMIM:608703
HP:0002495	Impaired vibratory sensation	9990	SLC12A6	OMIM:620068
HP:0002495	Impaired vibratory sensation	80821	DDHD1	ORPHA:101008
HP:0002073	Progressive cerebellar ataxia	5621	PRNP	ORPHA:282166
HP:0002073	Progressive cerebellar ataxia	339453	TMEM240	ORPHA:98773
HP:0002073	Progressive cerebellar ataxia	339453	TMEM240	OMIM:607454
HP:0002073	Progressive cerebellar ataxia	773	CACNA1A	OMIM:183086
HP:0002073	Progressive cerebellar ataxia	773	CACNA1A	OMIM:108500
HP:0002073	Progressive cerebellar ataxia	773	CACNA1A	ORPHA:98758
HP:0002073	Progressive cerebellar ataxia	87178	PNPT1	ORPHA:101111
HP:0002073	Progressive cerebellar ataxia	4287	ATXN3	OMIM:109150
HP:0002073	Progressive cerebellar ataxia	4287	ATXN3	ORPHA:276244
HP:0002073	Progressive cerebellar ataxia	4287	ATXN3	ORPHA:276241
HP:0002073	Progressive cerebellar ataxia	4287	ATXN3	ORPHA:276238
HP:0002073	Progressive cerebellar ataxia	1938	EEF2	ORPHA:101112
HP:0002073	Progressive cerebellar ataxia	1183	CLCN4	OMIM:300114
HP:0002073	Progressive cerebellar ataxia	1183	CLCN4	ORPHA:485350
HP:0002073	Progressive cerebellar ataxia	56978	PRDM8	OMIM:616640
HP:0002073	Progressive cerebellar ataxia	23446	SLC44A1	OMIM:618868
HP:0002073	Progressive cerebellar ataxia	57704	GBA2	ORPHA:352641
HP:0002073	Progressive cerebellar ataxia	27235	COQ2	ORPHA:227510
HP:0002073	Progressive cerebellar ataxia	27235	COQ2	ORPHA:98933
HP:0002073	Progressive cerebellar ataxia	146057	TTBK2	ORPHA:98767
HP:0002073	Progressive cerebellar ataxia	146057	TTBK2	OMIM:604432
HP:0002073	Progressive cerebellar ataxia	92935	MARS2	ORPHA:314603
HP:0002073	Progressive cerebellar ataxia	2521	FUS	ORPHA:275872
HP:0002073	Progressive cerebellar ataxia	8878	SQSTM1	ORPHA:275872
HP:0002073	Progressive cerebellar ataxia	7415	VCP	ORPHA:275872
HP:0002073	Progressive cerebellar ataxia	23435	TARDBP	ORPHA:275872
HP:0002073	Progressive cerebellar ataxia	29110	TBK1	ORPHA:275872
HP:0002073	Progressive cerebellar ataxia	400916	CHCHD10	ORPHA:275872
HP:0002073	Progressive cerebellar ataxia	5582	PRKCG	ORPHA:98763
HP:0002073	Progressive cerebellar ataxia	5582	PRKCG	OMIM:605361
HP:0002073	Progressive cerebellar ataxia	6712	SPTBN2	ORPHA:352403
HP:0002073	Progressive cerebellar ataxia	5521	PPP2R2B	OMIM:604326
HP:0002073	Progressive cerebellar ataxia	154881	KCTD7	ORPHA:263516
HP:0002073	Progressive cerebellar ataxia	1822	ATN1	ORPHA:101
HP:0002073	Progressive cerebellar ataxia	5428	POLG	ORPHA:254881
HP:0002073	Progressive cerebellar ataxia	25814	ATXN10	ORPHA:98761
HP:0002073	Progressive cerebellar ataxia	25814	ATXN10	OMIM:603516
HP:0002073	Progressive cerebellar ataxia	4311	MME	ORPHA:497764
HP:0002073	Progressive cerebellar ataxia	6315	ATXN8OS	OMIM:608768
HP:0002073	Progressive cerebellar ataxia	724066	ATXN8	OMIM:608768
HP:0002073	Progressive cerebellar ataxia	3748	KCNC3	OMIM:605259
HP:0002073	Progressive cerebellar ataxia	549	AUH	ORPHA:67046
HP:0002073	Progressive cerebellar ataxia	6311	ATXN2	OMIM:183090
HP:0002073	Progressive cerebellar ataxia	6311	ATXN2	ORPHA:98756
HP:0002073	Progressive cerebellar ataxia	5173	PDYN	ORPHA:101108
HP:0002073	Progressive cerebellar ataxia	56997	COQ8A	ORPHA:139485
HP:0002073	Progressive cerebellar ataxia	472	ATM	OMIM:208900
HP:0002073	Progressive cerebellar ataxia	7274	TTPA	OMIM:277460
HP:0002073	Progressive cerebellar ataxia	6785	ELOVL4	ORPHA:1955
HP:0002073	Progressive cerebellar ataxia	6314	ATXN7	OMIM:164500
HP:0002073	Progressive cerebellar ataxia	10166	SLC25A15	ORPHA:415
HP:0002073	Progressive cerebellar ataxia	6310	ATXN1	ORPHA:98755
HP:0002073	Progressive cerebellar ataxia	6310	ATXN1	OMIM:164400
HP:0002073	Progressive cerebellar ataxia	1200	TPP1	ORPHA:284324
HP:0002073	Progressive cerebellar ataxia	55129	ANO10	ORPHA:284289
HP:0002073	Progressive cerebellar ataxia	5981	RFC1	ORPHA:504476
HP:0002073	Progressive cerebellar ataxia	3064	HTT	ORPHA:248111
HP:0002073	Progressive cerebellar ataxia	22943	DKK1	ORPHA:268882
HP:0002073	Progressive cerebellar ataxia	23545	ATP6V0A2	ORPHA:2834
HP:0002073	Progressive cerebellar ataxia	55157	DARS2	ORPHA:137898
HP:0002073	Progressive cerebellar ataxia	5190	PEX6	ORPHA:95433
HP:0002073	Progressive cerebellar ataxia	3752	KCND3	OMIM:607346
HP:0002073	Progressive cerebellar ataxia	4556	MT-TE	ORPHA:2596
HP:0002073	Progressive cerebellar ataxia	57410	SCYL1	ORPHA:466794
HP:0002073	Progressive cerebellar ataxia	55187	VPS13D	ORPHA:95434
HP:0002073	Progressive cerebellar ataxia	27072	VPS41	ORPHA:95434
HP:0002073	Progressive cerebellar ataxia	343641	TGM6	ORPHA:276193
HP:0002073	Progressive cerebellar ataxia	55149	MTPAP	ORPHA:254343
HP:0002073	Progressive cerebellar ataxia	23400	ATP13A2	ORPHA:513436
HP:0002073	Progressive cerebellar ataxia	26278	SACS	ORPHA:98
HP:0002073	Progressive cerebellar ataxia	463	ZFHX3	OMIM:600223
HP:0002073	Progressive cerebellar ataxia	7466	WFS1	ORPHA:411590
HP:0002073	Progressive cerebellar ataxia	2744	GLS	OMIM:618412
HP:0002073	Progressive cerebellar ataxia	4598	MVK	OMIM:610377
HP:0002073	Progressive cerebellar ataxia	2705	GJB1	ORPHA:1175
HP:0002073	Progressive cerebellar ataxia	55154	MSTO1	ORPHA:502423
HP:0002073	Progressive cerebellar ataxia	5192	PEX10	ORPHA:247815
HP:0002497	Spastic ataxia	10749	KIF1C	ORPHA:397946
HP:0002497	Spastic ataxia	10749	KIF1C	OMIM:611302
HP:0002497	Spastic ataxia	5654	HTRA1	ORPHA:199354
HP:0002497	Spastic ataxia	92935	MARS2	OMIM:611390
HP:0002497	Spastic ataxia	92935	MARS2	ORPHA:314603
HP:0002497	Spastic ataxia	56978	PRDM8	OMIM:616640
HP:0002497	Spastic ataxia	55149	MTPAP	OMIM:613672
HP:0002497	Spastic ataxia	10381	TUBB3	ORPHA:300570
HP:0002497	Spastic ataxia	10939	AFG3L2	OMIM:614487
HP:0002497	Spastic ataxia	4038	LRP4	OMIM:614305
HP:0002497	Spastic ataxia	54834	GDAP2	OMIM:618369
HP:0002497	Spastic ataxia	55157	DARS2	ORPHA:137898
HP:0002497	Spastic ataxia	6843	VAMP1	OMIM:108600
HP:0002497	Spastic ataxia	6843	VAMP1	ORPHA:251282
HP:0002497	Spastic ataxia	27249	MMADHC	OMIM:277410
HP:0002497	Spastic ataxia	26115	TANC2	OMIM:618906
HP:0002497	Spastic ataxia	823	CAPN1	OMIM:616907
HP:0002497	Spastic ataxia	6687	SPG7	OMIM:607259
HP:0002497	Spastic ataxia	8913	CACNA1G	OMIM:616795
HP:0002497	Spastic ataxia	6905	TBCE	ORPHA:496756
HP:0002497	Spastic ataxia	498	ATP5F1A	OMIM:620358
HP:0002497	Spastic ataxia	51218	GLRX5	OMIM:616859
HP:0002497	Spastic ataxia	26278	SACS	OMIM:270550
HP:0000750	Delayed speech and language development	23394	ADNP	ORPHA:404448
HP:0000750	Delayed speech and language development	55703	POLR3B	OMIM:614381
HP:0000750	Delayed speech and language development	55703	POLR3B	OMIM:619742
HP:0000750	Delayed speech and language development	51256	TBC1D7	OMIM:248000
HP:0000750	Delayed speech and language development	340533	NEXMIF	OMIM:300912
HP:0000750	Delayed speech and language development	340533	NEXMIF	ORPHA:1942
HP:0000750	Delayed speech and language development	23135	KDM6B	OMIM:618505
HP:0000750	Delayed speech and language development	6659	SOX4	OMIM:618506
HP:0000750	Delayed speech and language development	84334	COA8	ORPHA:436271
HP:0000750	Delayed speech and language development	84334	COA8	OMIM:619061
HP:0000750	Delayed speech and language development	81570	CLPB	OMIM:619835
HP:0000750	Delayed speech and language development	5457	POU4F1	ORPHA:314647
HP:0000750	Delayed speech and language development	23261	CAMTA1	ORPHA:314647
HP:0000750	Delayed speech and language development	23261	CAMTA1	OMIM:614756
HP:0000750	Delayed speech and language development	10159	ATP6AP2	ORPHA:93952
HP:0000750	Delayed speech and language development	10159	ATP6AP2	OMIM:300423
HP:0000750	Delayed speech and language development	55209	SETD5	ORPHA:404440
HP:0000750	Delayed speech and language development	55209	SETD5	OMIM:615761
HP:0000750	Delayed speech and language development	4125	MAN2B1	ORPHA:309282
HP:0000750	Delayed speech and language development	4125	MAN2B1	ORPHA:309288
HP:0000750	Delayed speech and language development	10743	RAI1	ORPHA:477817
HP:0000750	Delayed speech and language development	10743	RAI1	ORPHA:819
HP:0000750	Delayed speech and language development	10743	RAI1	OMIM:182290
HP:0000750	Delayed speech and language development	24137	KIF4A	OMIM:300923
HP:0000750	Delayed speech and language development	80816	ASXL3	OMIM:615485
HP:0000750	Delayed speech and language development	57589	RIC1	ORPHA:199306
HP:0000750	Delayed speech and language development	5818	NECTIN1	ORPHA:199306
HP:0000750	Delayed speech and language development	1739	DLG1	ORPHA:199306
HP:0000750	Delayed speech and language development	999	CDH1	ORPHA:199306
HP:0000750	Delayed speech and language development	5156	PDGFRA	ORPHA:199306
HP:0000750	Delayed speech and language development	3664	IRF6	ORPHA:199306
HP:0000750	Delayed speech and language development	1748	DLX4	ORPHA:199306
HP:0000750	Delayed speech and language development	4487	MSX1	ORPHA:199306
HP:0000750	Delayed speech and language development	652	BMP4	ORPHA:199306
HP:0000750	Delayed speech and language development	8626	TP63	ORPHA:199306
HP:0000750	Delayed speech and language development	22837	COBLL1	ORPHA:199306
HP:0000750	Delayed speech and language development	54848	ARHGEF38	ORPHA:199306
HP:0000750	Delayed speech and language development	9411	ARHGAP29	ORPHA:199306
HP:0000750	Delayed speech and language development	8942	KYNU	OMIM:617661
HP:0000750	Delayed speech and language development	283489	CHAMP1	OMIM:616579
HP:0000750	Delayed speech and language development	27245	AHDC1	ORPHA:412069
HP:0000750	Delayed speech and language development	27245	AHDC1	OMIM:615829
HP:0000750	Delayed speech and language development	5424	POLD1	OMIM:620836
HP:0000750	Delayed speech and language development	55690	PACS1	OMIM:615009
HP:0000750	Delayed speech and language development	55690	PACS1	ORPHA:329224
HP:0000750	Delayed speech and language development	55904	KMT2E	OMIM:618512
HP:0000750	Delayed speech and language development	318	NUDT2	OMIM:619844
HP:0000750	Delayed speech and language development	9968	MED12	ORPHA:2728
HP:0000750	Delayed speech and language development	9968	MED12	ORPHA:93932
HP:0000750	Delayed speech and language development	9968	MED12	OMIM:300895
HP:0000750	Delayed speech and language development	2132	EXT2	ORPHA:466926
HP:0000750	Delayed speech and language development	57082	KNL1	OMIM:604321
HP:0000750	Delayed speech and language development	55650	PIGV	OMIM:239300
HP:0000750	Delayed speech and language development	2192	FBLN1	ORPHA:404451
HP:0000750	Delayed speech and language development	2188	FANCF	OMIM:603467
HP:0000750	Delayed speech and language development	284403	WDR62	OMIM:604317
HP:0000750	Delayed speech and language development	8029	CUBN	ORPHA:35858
HP:0000750	Delayed speech and language development	81693	AMN	ORPHA:35858
HP:0000750	Delayed speech and language development	7054	TH	OMIM:605407
HP:0000750	Delayed speech and language development	7054	TH	ORPHA:101150
HP:0000750	Delayed speech and language development	79868	ALG13	ORPHA:324422
HP:0000750	Delayed speech and language development	288	ANK3	OMIM:615493
HP:0000750	Delayed speech and language development	288	ANK3	ORPHA:356996
HP:0000750	Delayed speech and language development	818	CAMK2G	OMIM:618522
HP:0000750	Delayed speech and language development	55154	MSTO1	OMIM:617675
HP:0000750	Delayed speech and language development	55154	MSTO1	ORPHA:502423
HP:0000750	Delayed speech and language development	64359	NXN	OMIM:618529
HP:0000750	Delayed speech and language development	7436	VLDLR	OMIM:224050
HP:0000750	Delayed speech and language development	2770	GNAI1	OMIM:619854
HP:0000750	Delayed speech and language development	4091	SMAD6	OMIM:617439
HP:0000750	Delayed speech and language development	84100	ARL6	OMIM:209900
HP:0000750	Delayed speech and language development	84100	ARL6	ORPHA:110
HP:0000750	Delayed speech and language development	79140	CCDC28B	OMIM:209900
HP:0000750	Delayed speech and language development	582	BBS1	OMIM:209900
HP:0000750	Delayed speech and language development	582	BBS1	ORPHA:110
HP:0000750	Delayed speech and language development	85465	SELENOI	OMIM:618768
HP:0000750	Delayed speech and language development	4330	MN1	OMIM:618774
HP:0000750	Delayed speech and language development	5528	PPP2R5D	OMIM:616355
HP:0000750	Delayed speech and language development	5528	PPP2R5D	ORPHA:457279
HP:0000750	Delayed speech and language development	57231	SNX14	OMIM:616354
HP:0000750	Delayed speech and language development	57231	SNX14	ORPHA:397709
HP:0000750	Delayed speech and language development	23327	NEDD4L	OMIM:617201
HP:0000750	Delayed speech and language development	5833	PCYT2	OMIM:618770
HP:0000750	Delayed speech and language development	3340	NDST1	OMIM:616116
HP:0000750	Delayed speech and language development	11193	WBP4	OMIM:620852
HP:0000750	Delayed speech and language development	6602	SMARCD1	OMIM:618779
HP:0000750	Delayed speech and language development	26834	RNU4-2	OMIM:620851
HP:0000750	Delayed speech and language development	5373	PMM2	OMIM:212065
HP:0000750	Delayed speech and language development	5373	PMM2	ORPHA:79318
HP:0000750	Delayed speech and language development	92482	BBIP1	ORPHA:110
HP:0000750	Delayed speech and language development	80184	CEP290	ORPHA:110
HP:0000750	Delayed speech and language development	11020	IFT27	ORPHA:110
HP:0000750	Delayed speech and language development	11020	IFT27	OMIM:615996
HP:0000750	Delayed speech and language development	49855	SCAPER	ORPHA:110
HP:0000750	Delayed speech and language development	4867	NPHP1	ORPHA:110
HP:0000750	Delayed speech and language development	51057	WDPCP	ORPHA:110
HP:0000750	Delayed speech and language development	132320	SCLT1	ORPHA:110
HP:0000750	Delayed speech and language development	27241	BBS9	ORPHA:110
HP:0000750	Delayed speech and language development	27241	BBS9	OMIM:615986
HP:0000750	Delayed speech and language development	84984	CEP19	ORPHA:110
HP:0000750	Delayed speech and language development	22954	TRIM32	ORPHA:110
HP:0000750	Delayed speech and language development	54903	MKS1	ORPHA:110
HP:0000750	Delayed speech and language development	54903	MKS1	OMIM:617121
HP:0000750	Delayed speech and language development	79738	BBS10	ORPHA:110
HP:0000750	Delayed speech and language development	123016	TTC8	ORPHA:110
HP:0000750	Delayed speech and language development	26160	IFT172	ORPHA:110
HP:0000750	Delayed speech and language development	26160	IFT172	OMIM:619471
HP:0000750	Delayed speech and language development	583	BBS2	ORPHA:110
HP:0000750	Delayed speech and language development	585	BBS4	ORPHA:110
HP:0000750	Delayed speech and language development	8195	MKKS	ORPHA:110
HP:0000750	Delayed speech and language development	54585	LZTFL1	ORPHA:110
HP:0000750	Delayed speech and language development	55212	BBS7	ORPHA:110
HP:0000750	Delayed speech and language development	166379	BBS12	ORPHA:110
HP:0000750	Delayed speech and language development	10806	SDCCAG8	ORPHA:110
HP:0000750	Delayed speech and language development	157657	CFAP418	ORPHA:110
HP:0000750	Delayed speech and language development	157657	CFAP418	OMIM:617406
HP:0000750	Delayed speech and language development	129880	BBS5	ORPHA:110
HP:0000750	Delayed speech and language development	129880	BBS5	OMIM:615983
HP:0000750	Delayed speech and language development	80173	IFT74	ORPHA:110
HP:0000750	Delayed speech and language development	80173	IFT74	OMIM:617119
HP:0000750	Delayed speech and language development	8493	PPM1D	OMIM:617450
HP:0000750	Delayed speech and language development	26038	CHD5	OMIM:619873
HP:0000750	Delayed speech and language development	2911	GRM1	OMIM:617691
HP:0000750	Delayed speech and language development	2911	GRM1	OMIM:614831
HP:0000750	Delayed speech and language development	55621	TRMT1	OMIM:618302
HP:0000750	Delayed speech and language development	23126	POGZ	OMIM:616364
HP:0000750	Delayed speech and language development	23126	POGZ	ORPHA:468678
HP:0000750	Delayed speech and language development	55773	TBC1D23	OMIM:617695
HP:0000750	Delayed speech and language development	57680	CHD8	OMIM:615032
HP:0000750	Delayed speech and language development	57680	CHD8	ORPHA:261229
HP:0000750	Delayed speech and language development	8558	CDK10	OMIM:617694
HP:0000750	Delayed speech and language development	51633	OTUD6B	OMIM:617452
HP:0000750	Delayed speech and language development	9354	UBE4A	OMIM:619639
HP:0000750	Delayed speech and language development	55280	CWF19L1	OMIM:616127
HP:0000750	Delayed speech and language development	55280	CWF19L1	ORPHA:453521
HP:0000750	Delayed speech and language development	92609	TIMM50	OMIM:617698
HP:0000750	Delayed speech and language development	3098	HK1	OMIM:618547
HP:0000750	Delayed speech and language development	5590	PRKCZ	ORPHA:1606
HP:0000750	Delayed speech and language development	2563	GABRD	ORPHA:1606
HP:0000750	Delayed speech and language development	23013	SPEN	ORPHA:1606
HP:0000750	Delayed speech and language development	23013	SPEN	OMIM:619312
HP:0000750	Delayed speech and language development	8510	MMP23B	ORPHA:1606
HP:0000750	Delayed speech and language development	7798	LUZP1	ORPHA:1606
HP:0000750	Delayed speech and language development	6497	SKI	ORPHA:1606
HP:0000750	Delayed speech and language development	10630	PDPN	ORPHA:1606
HP:0000750	Delayed speech and language development	3339	HSPG2	ORPHA:1606
HP:0000750	Delayed speech and language development	10277	UBE4B	ORPHA:1606
HP:0000750	Delayed speech and language development	8514	KCNAB2	ORPHA:1606
HP:0000750	Delayed speech and language development	473	RERE	ORPHA:1606
HP:0000750	Delayed speech and language development	63976	PRDM16	ORPHA:1606
HP:0000750	Delayed speech and language development	54897	CASZ1	ORPHA:1606
HP:0000750	Delayed speech and language development	1859	DYRK1A	ORPHA:464311
HP:0000750	Delayed speech and language development	1859	DYRK1A	OMIM:614104
HP:0000750	Delayed speech and language development	79718	TBL1XR1	OMIM:602342
HP:0000750	Delayed speech and language development	5621	PRNP	ORPHA:157941
HP:0000750	Delayed speech and language development	2232	FDXR	ORPHA:543470
HP:0000750	Delayed speech and language development	200424	TET3	OMIM:618798
HP:0000750	Delayed speech and language development	2620	GAS2	OMIM:620877
HP:0000750	Delayed speech and language development	111	ADCY5	OMIM:619647
HP:0000750	Delayed speech and language development	111	ADCY5	OMIM:619651
HP:0000750	Delayed speech and language development	9772	TMEM94	OMIM:618316
HP:0000750	Delayed speech and language development	79971	WLS	OMIM:619648
HP:0000750	Delayed speech and language development	9711	RUBCN	ORPHA:404499
HP:0000750	Delayed speech and language development	9711	RUBCN	OMIM:615705
HP:0000750	Delayed speech and language development	4208	MEF2C	ORPHA:228384
HP:0000750	Delayed speech and language development	5981	RFC1	ORPHA:504476
HP:0000750	Delayed speech and language development	55739	NAXD	OMIM:618321
HP:0000750	Delayed speech and language development	5354	PLP1	OMIM:312080
HP:0000750	Delayed speech and language development	5354	PLP1	ORPHA:280219
HP:0000750	Delayed speech and language development	7143	TNR	OMIM:619653
HP:0000750	Delayed speech and language development	2260	FGFR1	OMIM:166250
HP:0000750	Delayed speech and language development	2260	FGFR1	OMIM:190440
HP:0000750	Delayed speech and language development	2260	FGFR1	ORPHA:3366
HP:0000750	Delayed speech and language development	25836	NIPBL	OMIM:122470
HP:0000750	Delayed speech and language development	374969	SVBP	OMIM:618569
HP:0000750	Delayed speech and language development	51322	WAC	ORPHA:466950
HP:0000750	Delayed speech and language development	51322	WAC	ORPHA:284169
HP:0000750	Delayed speech and language development	51322	WAC	OMIM:616708
HP:0000750	Delayed speech and language development	29110	TBK1	OMIM:620880
HP:0000750	Delayed speech and language development	2778	GNAS	ORPHA:79445
HP:0000750	Delayed speech and language development	2055	CLN8	OMIM:600143
HP:0000750	Delayed speech and language development	2055	CLN8	ORPHA:1947
HP:0000750	Delayed speech and language development	25970	SH2B1	ORPHA:261197
HP:0000750	Delayed speech and language development	25970	SH2B1	ORPHA:261222
HP:0000750	Delayed speech and language development	25970	SH2B1	ORPHA:329249
HP:0000750	Delayed speech and language development	2033	EP300	OMIM:618333
HP:0000750	Delayed speech and language development	2033	EP300	OMIM:613684
HP:0000750	Delayed speech and language development	2033	EP300	ORPHA:353284
HP:0000750	Delayed speech and language development	2033	EP300	OMIM:180849
HP:0000750	Delayed speech and language development	10533	ATG7	OMIM:619422
HP:0000750	Delayed speech and language development	1523	CUX1	OMIM:618330
HP:0000750	Delayed speech and language development	120	ADD3	OMIM:617008
HP:0000750	Delayed speech and language development	171546	SPTSSA	OMIM:620416
HP:0000750	Delayed speech and language development	4212	MEIS2	ORPHA:261190
HP:0000750	Delayed speech and language development	5908	RAP1B	OMIM:620654
HP:0000750	Delayed speech and language development	6443	SGCB	ORPHA:119
HP:0000750	Delayed speech and language development	835	CASP2	OMIM:620653
HP:0000750	Delayed speech and language development	5813	PURA	ORPHA:314655
HP:0000750	Delayed speech and language development	435	ASL	ORPHA:23
HP:0000750	Delayed speech and language development	9949	AMMECR1	OMIM:300990
HP:0000750	Delayed speech and language development	57526	PCDH19	ORPHA:101039
HP:0000750	Delayed speech and language development	695	BTK	OMIM:300755
HP:0000750	Delayed speech and language development	6134	RPL10	OMIM:300998
HP:0000750	Delayed speech and language development	6134	RPL10	ORPHA:459070
HP:0000750	Delayed speech and language development	1281	COL3A1	OMIM:618343
HP:0000750	Delayed speech and language development	160418	TMTC3	OMIM:617255
HP:0000750	Delayed speech and language development	123606	NIPA1	ORPHA:261183
HP:0000750	Delayed speech and language development	7283	TUBG1	ORPHA:261183
HP:0000750	Delayed speech and language development	81614	NIPA2	ORPHA:261183
HP:0000750	Delayed speech and language development	54517	PUS7	OMIM:618342
HP:0000750	Delayed speech and language development	10765	KDM5B	OMIM:618109
HP:0000750	Delayed speech and language development	2495	FTH1	OMIM:620669
HP:0000750	Delayed speech and language development	54973	INTS11	OMIM:620428
HP:0000750	Delayed speech and language development	10785	WDR4	OMIM:618347
HP:0000750	Delayed speech and language development	4967	OGDH	OMIM:203740
HP:0000750	Delayed speech and language development	57122	NUP107	OMIM:618348
HP:0000750	Delayed speech and language development	57122	NUP107	OMIM:616730
HP:0000750	Delayed speech and language development	6418	SET	OMIM:618106
HP:0000750	Delayed speech and language development	56623	INPP5E	OMIM:213300
HP:0000750	Delayed speech and language development	56623	INPP5E	ORPHA:75858
HP:0000750	Delayed speech and language development	56623	INPP5E	OMIM:610156
HP:0000750	Delayed speech and language development	253738	EBF3	ORPHA:96148
HP:0000750	Delayed speech and language development	253738	EBF3	OMIM:617330
HP:0000750	Delayed speech and language development	90459	ERI1	OMIM:620663
HP:0000750	Delayed speech and language development	90459	ERI1	OMIM:620662
HP:0000750	Delayed speech and language development	50814	NSDHL	ORPHA:251383
HP:0000750	Delayed speech and language development	50814	NSDHL	OMIM:300831
HP:0000750	Delayed speech and language development	3708	ITPR1	ORPHA:208513
HP:0000750	Delayed speech and language development	3708	ITPR1	OMIM:117360
HP:0000750	Delayed speech and language development	3708	ITPR1	OMIM:206700
HP:0000750	Delayed speech and language development	100033413	SNORD116-1	OMIM:176270
HP:0000750	Delayed speech and language development	8924	HERC2	OMIM:176270
HP:0000750	Delayed speech and language development	8924	HERC2	OMIM:615516
HP:0000750	Delayed speech and language development	23742	NPAP1	OMIM:176270
HP:0000750	Delayed speech and language development	338433	SNORD115-1	OMIM:176270
HP:0000750	Delayed speech and language development	54551	MAGEL2	OMIM:176270
HP:0000750	Delayed speech and language development	54551	MAGEL2	ORPHA:398069
HP:0000750	Delayed speech and language development	54551	MAGEL2	OMIM:615547
HP:0000750	Delayed speech and language development	7681	MKRN3	OMIM:176270
HP:0000750	Delayed speech and language development	145624	PWAR1	OMIM:176270
HP:0000750	Delayed speech and language development	3653	IPW	OMIM:176270
HP:0000750	Delayed speech and language development	791114	PWRN1	OMIM:176270
HP:0000750	Delayed speech and language development	1120	CHKB	OMIM:602541
HP:0000750	Delayed speech and language development	5575	PRKAR1B	OMIM:619680
HP:0000750	Delayed speech and language development	3712	IVD	ORPHA:33
HP:0000750	Delayed speech and language development	5515	PPP2CA	OMIM:618354
HP:0000750	Delayed speech and language development	6096	RORB	OMIM:618357
HP:0000750	Delayed speech and language development	112755	STX1B	OMIM:616172
HP:0000750	Delayed speech and language development	116461	TSEN15	OMIM:617026
HP:0000750	Delayed speech and language development	55262	TRAPPC14	OMIM:618351
HP:0000750	Delayed speech and language development	6492	SIM1	ORPHA:171829
HP:0000750	Delayed speech and language development	6492	SIM1	ORPHA:398079
HP:0000750	Delayed speech and language development	23043	TNIK	OMIM:617028
HP:0000750	Delayed speech and language development	23524	SRRM2	OMIM:620439
HP:0000750	Delayed speech and language development	4784	NFIX	OMIM:602535
HP:0000750	Delayed speech and language development	4784	NFIX	ORPHA:447980
HP:0000750	Delayed speech and language development	4784	NFIX	OMIM:614753
HP:0000750	Delayed speech and language development	55250	ELP2	OMIM:617270
HP:0000750	Delayed speech and language development	84340	GFM2	ORPHA:565624
HP:0000750	Delayed speech and language development	84340	GFM2	OMIM:618397
HP:0000750	Delayed speech and language development	8888	MCM3AP	OMIM:618124
HP:0000750	Delayed speech and language development	51132	RLIM	OMIM:300978
HP:0000750	Delayed speech and language development	10588	MTHFS	OMIM:618367
HP:0000750	Delayed speech and language development	2334	AFF2	OMIM:309548
HP:0000750	Delayed speech and language development	2334	AFF2	ORPHA:100973
HP:0000750	Delayed speech and language development	24140	FTSJ1	OMIM:309549
HP:0000750	Delayed speech and language development	6601	SMARCC2	OMIM:618362
HP:0000750	Delayed speech and language development	513	ATP5F1D	OMIM:618120
HP:0000750	Delayed speech and language development	92255	LMBRD2	OMIM:619694
HP:0000750	Delayed speech and language development	27341	RRP7A	OMIM:619453
HP:0000750	Delayed speech and language development	2019	EN1	OMIM:619218
HP:0000750	Delayed speech and language development	9675	TTI1	OMIM:620445
HP:0000750	Delayed speech and language development	3183	HNRNPC	OMIM:620688
HP:0000750	Delayed speech and language development	549	AUH	OMIM:250950
HP:0000750	Delayed speech and language development	549	AUH	ORPHA:67046
HP:0000750	Delayed speech and language development	5805	PTS	ORPHA:13
HP:0000750	Delayed speech and language development	80311	KLHL15	OMIM:300982
HP:0000750	Delayed speech and language development	56776	FMN2	OMIM:616193
HP:0000750	Delayed speech and language development	23111	SPART	ORPHA:101000
HP:0000750	Delayed speech and language development	2068	ERCC2	OMIM:601675
HP:0000750	Delayed speech and language development	1760	DMPK	ORPHA:589821
HP:0000750	Delayed speech and language development	7086	TKT	OMIM:617044
HP:0000750	Delayed speech and language development	7086	TKT	ORPHA:488618
HP:0000750	Delayed speech and language development	6390	SDHB	OMIM:619224
HP:0000750	Delayed speech and language development	84892	POMGNT2	OMIM:618135
HP:0000750	Delayed speech and language development	63931	MRPS14	OMIM:618378
HP:0000750	Delayed speech and language development	164	AP1G1	OMIM:619467
HP:0000750	Delayed speech and language development	164	AP1G1	OMIM:619548
HP:0000750	Delayed speech and language development	9757	KMT2B	OMIM:617284
HP:0000750	Delayed speech and language development	9758	FRMPD4	OMIM:300983
HP:0000750	Delayed speech and language development	7253	TSHR	OMIM:609152
HP:0000750	Delayed speech and language development	6304	SATB1	OMIM:619228
HP:0000750	Delayed speech and language development	6304	SATB1	OMIM:619229
HP:0000750	Delayed speech and language development	1974	EIF4A2	OMIM:620455
HP:0000750	Delayed speech and language development	220296	HEPACAM	OMIM:613925
HP:0000750	Delayed speech and language development	220296	HEPACAM	OMIM:613926
HP:0000750	Delayed speech and language development	220296	HEPACAM	ORPHA:210548
HP:0000750	Delayed speech and language development	6874	TAF4	OMIM:620450
HP:0000750	Delayed speech and language development	79736	TEFM	OMIM:620451
HP:0000750	Delayed speech and language development	3028	HSD17B10	ORPHA:391428
HP:0000750	Delayed speech and language development	3028	HSD17B10	OMIM:300438
HP:0000750	Delayed speech and language development	50801	KCNK4	OMIM:618381
HP:0000750	Delayed speech and language development	84065	TMEM222	OMIM:619470
HP:0000750	Delayed speech and language development	11212	PLPBP	OMIM:617290
HP:0000750	Delayed speech and language development	55697	VAC14	OMIM:617054
HP:0000750	Delayed speech and language development	57498	KIDINS220	OMIM:617296
HP:0000750	Delayed speech and language development	8812	CCNK	OMIM:618147
HP:0000750	Delayed speech and language development	57187	THOC2	OMIM:300957
HP:0000750	Delayed speech and language development	57187	THOC2	ORPHA:457240
HP:0000750	Delayed speech and language development	9851	KIAA0753	OMIM:619479
HP:0000750	Delayed speech and language development	27107	ZBTB11	OMIM:618383
HP:0000750	Delayed speech and language development	2892	GRIA3	ORPHA:364028
HP:0000750	Delayed speech and language development	7737	RNF113A	OMIM:300953
HP:0000750	Delayed speech and language development	6711	SPTBN1	OMIM:619475
HP:0000750	Delayed speech and language development	4361	MRE11	ORPHA:251347
HP:0000750	Delayed speech and language development	4361	MRE11	OMIM:604391
HP:0000750	Delayed speech and language development	8452	CUL3	OMIM:619239
HP:0000750	Delayed speech and language development	6608	SMO	OMIM:241800
HP:0000750	Delayed speech and language development	527	ATP6V0C	OMIM:620465
HP:0000750	Delayed speech and language development	80036	TRPM3	OMIM:620224
HP:0000750	Delayed speech and language development	10283	CWC27	ORPHA:166035
HP:0000750	Delayed speech and language development	10283	CWC27	OMIM:250410
HP:0000750	Delayed speech and language development	388015	RTL1	ORPHA:96184
HP:0000750	Delayed speech and language development	388015	RTL1	ORPHA:254531
HP:0000750	Delayed speech and language development	388015	RTL1	ORPHA:254525
HP:0000750	Delayed speech and language development	8788	DLK1	ORPHA:96184
HP:0000750	Delayed speech and language development	8788	DLK1	ORPHA:254531
HP:0000750	Delayed speech and language development	8788	DLK1	ORPHA:254525
HP:0000750	Delayed speech and language development	55384	MEG3	ORPHA:96184
HP:0000750	Delayed speech and language development	55384	MEG3	ORPHA:254531
HP:0000750	Delayed speech and language development	55384	MEG3	ORPHA:254525
HP:0000750	Delayed speech and language development	11198	SUPT16H	OMIM:619480
HP:0000750	Delayed speech and language development	11198	SUPT16H	ORPHA:261229
HP:0000750	Delayed speech and language development	2887	GRB10	ORPHA:96182
HP:0000750	Delayed speech and language development	25839	COG4	OMIM:618150
HP:0000750	Delayed speech and language development	1457	CSNK2A1	OMIM:617062
HP:0000750	Delayed speech and language development	7204	TRIO	OMIM:617061
HP:0000750	Delayed speech and language development	7204	TRIO	OMIM:618825
HP:0000750	Delayed speech and language development	100147744	RNU7-1	OMIM:619487
HP:0000750	Delayed speech and language development	203068	TUBB	OMIM:156610
HP:0000750	Delayed speech and language development	203068	TUBB	OMIM:615771
HP:0000750	Delayed speech and language development	6872	TAF1	OMIM:300966
HP:0000750	Delayed speech and language development	6872	TAF1	ORPHA:480907
HP:0000750	Delayed speech and language development	8567	MADD	OMIM:619004
HP:0000750	Delayed speech and language development	8567	MADD	OMIM:619005
HP:0000750	Delayed speech and language development	4841	NONO	OMIM:300967
HP:0000750	Delayed speech and language development	4841	NONO	ORPHA:466791
HP:0000750	Delayed speech and language development	5058	PAK1	OMIM:618158
HP:0000750	Delayed speech and language development	8239	USP9X	OMIM:300968
HP:0000750	Delayed speech and language development	57477	SHROOM4	ORPHA:85288
HP:0000750	Delayed speech and language development	23067	SETD1B	OMIM:619000
HP:0000750	Delayed speech and language development	23112	TNRC6B	OMIM:619243
HP:0000750	Delayed speech and language development	91875	TTC5	OMIM:619244
HP:0000750	Delayed speech and language development	9373	PLAA	ORPHA:521426
HP:0000750	Delayed speech and language development	9373	PLAA	OMIM:617527
HP:0000750	Delayed speech and language development	23096	IQSEC2	OMIM:309530
HP:0000750	Delayed speech and language development	23096	IQSEC2	ORPHA:819
HP:0000750	Delayed speech and language development	23096	IQSEC2	ORPHA:217377
HP:0000750	Delayed speech and language development	10681	GNB5	ORPHA:542306
HP:0000750	Delayed speech and language development	10681	GNB5	OMIM:617173
HP:0000750	Delayed speech and language development	10681	GNB5	OMIM:617182
HP:0000750	Delayed speech and language development	5625	PRODH	OMIM:239500
HP:0000750	Delayed speech and language development	2799	GNS	OMIM:252940
HP:0000750	Delayed speech and language development	23387	SIK3	OMIM:618162
HP:0000750	Delayed speech and language development	84231	TRAF7	OMIM:618164
HP:0000750	Delayed speech and language development	8242	KDM5C	ORPHA:85279
HP:0000750	Delayed speech and language development	8242	KDM5C	OMIM:300534
HP:0000750	Delayed speech and language development	1315	COPB1	OMIM:619255
HP:0000750	Delayed speech and language development	27316	RBMX	ORPHA:85286
HP:0000750	Delayed speech and language development	284058	KANSL1	OMIM:610443
HP:0000750	Delayed speech and language development	284058	KANSL1	ORPHA:363958
HP:0000750	Delayed speech and language development	284058	KANSL1	ORPHA:363965
HP:0000750	Delayed speech and language development	81615	TMEM163	OMIM:620243
HP:0000750	Delayed speech and language development	51082	POLR1D	OMIM:613717
HP:0000750	Delayed speech and language development	51082	POLR1D	ORPHA:861
HP:0000750	Delayed speech and language development	10079	ATP9A	OMIM:620242
HP:0000750	Delayed speech and language development	2801	GOLGA2	OMIM:620240
HP:0000750	Delayed speech and language development	284361	EMC10	OMIM:619264
HP:0000750	Delayed speech and language development	170302	ARX	OMIM:309510
HP:0000750	Delayed speech and language development	170302	ARX	ORPHA:94083
HP:0000750	Delayed speech and language development	8398	PLA2G6	OMIM:610217
HP:0000750	Delayed speech and language development	8398	PLA2G6	OMIM:256600
HP:0000750	Delayed speech and language development	8398	PLA2G6	ORPHA:35069
HP:0000750	Delayed speech and language development	55294	FBXW7	OMIM:620012
HP:0000750	Delayed speech and language development	9898	UBAP2L	OMIM:620494
HP:0000750	Delayed speech and language development	8085	KMT2D	OMIM:147920
HP:0000750	Delayed speech and language development	8085	KMT2D	OMIM:620186
HP:0000750	Delayed speech and language development	7403	KDM6A	OMIM:147920
HP:0000750	Delayed speech and language development	9131	AIFM1	ORPHA:238329
HP:0000750	Delayed speech and language development	6095	RORA	OMIM:618060
HP:0000750	Delayed speech and language development	5138	PDE2A	OMIM:619150
HP:0000750	Delayed speech and language development	8450	CUL4B	OMIM:300354
HP:0000750	Delayed speech and language development	6535	SLC6A8	OMIM:300352
HP:0000750	Delayed speech and language development	6535	SLC6A8	ORPHA:52503
HP:0000750	Delayed speech and language development	26960	NBEA	OMIM:619157
HP:0000750	Delayed speech and language development	23241	PACS2	OMIM:618067
HP:0000750	Delayed speech and language development	23241	PACS2	ORPHA:442835
HP:0000750	Delayed speech and language development	10466	COG5	OMIM:613612
HP:0000750	Delayed speech and language development	10466	COG5	ORPHA:263487
HP:0000750	Delayed speech and language development	123263	MTFMT	OMIM:614947
HP:0000750	Delayed speech and language development	340990	OTOG	OMIM:614945
HP:0000750	Delayed speech and language development	51343	FZR1	OMIM:620145
HP:0000750	Delayed speech and language development	51343	FZR1	ORPHA:442835
HP:0000750	Delayed speech and language development	9839	ZEB2	OMIM:235730
HP:0000750	Delayed speech and language development	10093	ARPC4	OMIM:620141
HP:0000750	Delayed speech and language development	5447	POR	ORPHA:95699
HP:0000750	Delayed speech and language development	80232	WDR26	ORPHA:513456
HP:0000750	Delayed speech and language development	3199	HOXA2	ORPHA:83463
HP:0000750	Delayed speech and language development	4010	LMX1B	ORPHA:495818
HP:0000750	Delayed speech and language development	6812	STXBP1	ORPHA:495818
HP:0000750	Delayed speech and language development	6812	STXBP1	ORPHA:599373
HP:0000750	Delayed speech and language development	80055	PGAP1	OMIM:615802
HP:0000750	Delayed speech and language development	2314	FLII	ORPHA:819
HP:0000750	Delayed speech and language development	10522	DEAF1	ORPHA:819
HP:0000750	Delayed speech and language development	55780	ERMARD	ORPHA:75857
HP:0000750	Delayed speech and language development	55780	ERMARD	OMIM:615544
HP:0000750	Delayed speech and language development	9382	COG1	OMIM:611209
HP:0000750	Delayed speech and language development	4001	LMNB1	OMIM:619179
HP:0000750	Delayed speech and language development	64324	NSD1	OMIM:117550
HP:0000750	Delayed speech and language development	8913	CACNA1G	OMIM:618087
HP:0000750	Delayed speech and language development	3766	KCNJ10	OMIM:612780
HP:0000750	Delayed speech and language development	80204	FBXO11	OMIM:618089
HP:0000750	Delayed speech and language development	93627	TBCK	OMIM:616900
HP:0000750	Delayed speech and language development	93627	TBCK	ORPHA:488632
HP:0000750	Delayed speech and language development	80254	CEP63	OMIM:614728
HP:0000750	Delayed speech and language development	23325	WASHC4	OMIM:615817
HP:0000750	Delayed speech and language development	56984	PSMG2	OMIM:619183
HP:0000750	Delayed speech and language development	57531	HACE1	ORPHA:464282
HP:0000750	Delayed speech and language development	80856	LNPK	OMIM:618090
HP:0000750	Delayed speech and language development	84823	LMNB2	OMIM:619180
HP:0000750	Delayed speech and language development	64919	BCL11B	OMIM:618092
HP:0000750	Delayed speech and language development	23036	ZNF292	OMIM:619188
HP:0000750	Delayed speech and language development	23545	ATP6V0A2	OMIM:278250
HP:0000750	Delayed speech and language development	23545	ATP6V0A2	ORPHA:2834
HP:0000750	Delayed speech and language development	23545	ATP6V0A2	ORPHA:357074
HP:0000750	Delayed speech and language development	23314	SATB2	OMIM:612313
HP:0000750	Delayed speech and language development	23314	SATB2	ORPHA:251019
HP:0000750	Delayed speech and language development	54872	PIGG	OMIM:616917
HP:0000750	Delayed speech and language development	54872	PIGG	ORPHA:488635
HP:0000750	Delayed speech and language development	25942	SIN3A	OMIM:613406
HP:0000750	Delayed speech and language development	175	AGA	ORPHA:93
HP:0000750	Delayed speech and language development	175	AGA	OMIM:208400
HP:0000750	Delayed speech and language development	3192	HNRNPU	ORPHA:238769
HP:0000750	Delayed speech and language development	9653	HS2ST1	OMIM:619194
HP:0000750	Delayed speech and language development	1798	DPAGT1	ORPHA:86309
HP:0000750	Delayed speech and language development	10841	FTCD	ORPHA:51208
HP:0000750	Delayed speech and language development	2903	GRIN2A	OMIM:245570
HP:0000750	Delayed speech and language development	2903	GRIN2A	ORPHA:163721
HP:0000750	Delayed speech and language development	5063	PAK3	OMIM:300558
HP:0000750	Delayed speech and language development	27286	SRPX2	ORPHA:163721
HP:0000750	Delayed speech and language development	27286	SRPX2	ORPHA:98889
HP:0000750	Delayed speech and language development	26053	AUTS2	OMIM:615834
HP:0000750	Delayed speech and language development	26053	AUTS2	ORPHA:352490
HP:0000750	Delayed speech and language development	3211	HOXB1	OMIM:614744
HP:0000750	Delayed speech and language development	773	CACNA1A	ORPHA:2131
HP:0000750	Delayed speech and language development	773	CACNA1A	ORPHA:442835
HP:0000750	Delayed speech and language development	6507	SLC1A3	ORPHA:2131
HP:0000750	Delayed speech and language development	477	ATP1A2	ORPHA:2131
HP:0000750	Delayed speech and language development	477	ATP1A2	ORPHA:442835
HP:0000750	Delayed speech and language development	478	ATP1A3	ORPHA:2131
HP:0000750	Delayed speech and language development	478	ATP1A3	ORPHA:442835
HP:0000750	Delayed speech and language development	84720	PIGO	OMIM:614749
HP:0000750	Delayed speech and language development	55343	SLC35C1	OMIM:266265
HP:0000750	Delayed speech and language development	283209	PGM2L1	OMIM:620191
HP:0000750	Delayed speech and language development	79228	THOC6	ORPHA:363444
HP:0000750	Delayed speech and language development	2316	FLNA	OMIM:300321
HP:0000750	Delayed speech and language development	23522	KAT6B	ORPHA:85201
HP:0000750	Delayed speech and language development	182	JAG1	OMIM:118450
HP:0000750	Delayed speech and language development	10472	ZBTB18	OMIM:612337
HP:0000750	Delayed speech and language development	34	ACADM	ORPHA:42
HP:0000750	Delayed speech and language development	55084	SOBP	OMIM:613671
HP:0000750	Delayed speech and language development	27086	FOXP1	OMIM:613670
HP:0000750	Delayed speech and language development	27086	FOXP1	ORPHA:391372
HP:0000750	Delayed speech and language development	55149	MTPAP	OMIM:613672
HP:0000750	Delayed speech and language development	2146	EZH2	OMIM:277590
HP:0000750	Delayed speech and language development	81887	LAS1L	OMIM:309585
HP:0000750	Delayed speech and language development	10815	CPLX1	ORPHA:352582
HP:0000750	Delayed speech and language development	57465	TBC1D24	ORPHA:352582
HP:0000750	Delayed speech and language development	6509	SLC1A4	ORPHA:447997
HP:0000750	Delayed speech and language development	2776	GNAQ	ORPHA:3205
HP:0000750	Delayed speech and language development	226	ALDOA	ORPHA:57
HP:0000750	Delayed speech and language development	6567	SLC16A2	ORPHA:59
HP:0000750	Delayed speech and language development	5832	ALDH18A1	ORPHA:447760
HP:0000750	Delayed speech and language development	22907	DHX30	OMIM:617804
HP:0000750	Delayed speech and language development	196528	ARID2	OMIM:617808
HP:0000750	Delayed speech and language development	10075	HUWE1	OMIM:309590
HP:0000750	Delayed speech and language development	6513	SLC2A1	ORPHA:71277
HP:0000750	Delayed speech and language development	6513	SLC2A1	OMIM:606777
HP:0000750	Delayed speech and language development	6513	SLC2A1	ORPHA:1942
HP:0000750	Delayed speech and language development	8243	SMC1A	OMIM:301044
HP:0000750	Delayed speech and language development	124997	WDR81	OMIM:610185
HP:0000750	Delayed speech and language development	8733	GPAA1	OMIM:617810
HP:0000750	Delayed speech and language development	8733	GPAA1	ORPHA:529665
HP:0000750	Delayed speech and language development	89891	DYNC2I2	OMIM:615633
HP:0000750	Delayed speech and language development	132	ADK	OMIM:614300
HP:0000750	Delayed speech and language development	2290	FOXG1	OMIM:613454
HP:0000750	Delayed speech and language development	2290	FOXG1	ORPHA:442835
HP:0000750	Delayed speech and language development	11133	KPTN	OMIM:615637
HP:0000750	Delayed speech and language development	11133	KPTN	ORPHA:397612
HP:0000750	Delayed speech and language development	6334	SCN8A	OMIM:614306
HP:0000750	Delayed speech and language development	6334	SCN8A	ORPHA:442835
HP:0000750	Delayed speech and language development	89970	RSPRY1	OMIM:616723
HP:0000750	Delayed speech and language development	23028	KDM1A	OMIM:616728
HP:0000750	Delayed speech and language development	23028	KDM1A	ORPHA:477993
HP:0000750	Delayed speech and language development	26115	TANC2	OMIM:618906
HP:0000750	Delayed speech and language development	3981	LIG4	OMIM:606593
HP:0000750	Delayed speech and language development	3981	LIG4	ORPHA:235
HP:0000750	Delayed speech and language development	26580	BSCL2	ORPHA:363400
HP:0000750	Delayed speech and language development	26580	BSCL2	OMIM:615924
HP:0000750	Delayed speech and language development	1806	DPYD	OMIM:274270
HP:0000750	Delayed speech and language development	1806	DPYD	ORPHA:293948
HP:0000750	Delayed speech and language development	23291	FBXW11	OMIM:618914
HP:0000750	Delayed speech and language development	2782	GNB1	OMIM:616973
HP:0000750	Delayed speech and language development	4893	NRAS	OMIM:613224
HP:0000750	Delayed speech and language development	3097	HIVEP2	OMIM:616977
HP:0000750	Delayed speech and language development	10982	MAPRE2	OMIM:616734
HP:0000750	Delayed speech and language development	3176	HNMT	OMIM:616739
HP:0000750	Delayed speech and language development	2891	GRIA2	OMIM:618917
HP:0000750	Delayed speech and language development	4131	MAP1B	OMIM:618918
HP:0000750	Delayed speech and language development	84679	SLC9A7	OMIM:301024
HP:0000750	Delayed speech and language development	90161	HS6ST2	OMIM:301025
HP:0000750	Delayed speech and language development	4694	NDUFA1	OMIM:301020
HP:0000750	Delayed speech and language development	10735	STAG2	OMIM:301022
HP:0000750	Delayed speech and language development	2332	FMR1	ORPHA:449291
HP:0000750	Delayed speech and language development	2332	FMR1	ORPHA:908
HP:0000750	Delayed speech and language development	55906	ZC4H2	OMIM:314580
HP:0000750	Delayed speech and language development	63035	BCORL1	OMIM:301029
HP:0000750	Delayed speech and language development	116150	NUS1	OMIM:617831
HP:0000750	Delayed speech and language development	116150	NUS1	ORPHA:442835
HP:0000750	Delayed speech and language development	79947	DHDDS	OMIM:617836
HP:0000750	Delayed speech and language development	79947	DHDDS	ORPHA:442835
HP:0000750	Delayed speech and language development	91137	SLC25A46	OMIM:616505
HP:0000750	Delayed speech and language development	6678	SPARC	OMIM:616507
HP:0000750	Delayed speech and language development	6792	CDKL5	ORPHA:505652
HP:0000750	Delayed speech and language development	10943	MSL3	OMIM:301032
HP:0000750	Delayed speech and language development	6638	SNRPN	OMIM:209850
HP:0000750	Delayed speech and language development	6638	SNRPN	ORPHA:177907
HP:0000750	Delayed speech and language development	4041	LRP5	ORPHA:2788
HP:0000750	Delayed speech and language development	56479	KCNQ5	OMIM:617601
HP:0000750	Delayed speech and language development	23152	CIC	OMIM:617600
HP:0000750	Delayed speech and language development	128637	TBC1D20	OMIM:615663
HP:0000750	Delayed speech and language development	9343	EFTUD2	ORPHA:79113
HP:0000750	Delayed speech and language development	9343	EFTUD2	OMIM:610536
HP:0000750	Delayed speech and language development	9997	SCO2	OMIM:604377
HP:0000750	Delayed speech and language development	10664	CTCF	ORPHA:363611
HP:0000750	Delayed speech and language development	10664	CTCF	OMIM:615502
HP:0000750	Delayed speech and language development	10367	MICU1	OMIM:615673
HP:0000750	Delayed speech and language development	8270	LAGE3	OMIM:301006
HP:0000750	Delayed speech and language development	22866	CNKSR2	OMIM:301008
HP:0000750	Delayed speech and language development	22866	CNKSR2	ORPHA:442835
HP:0000750	Delayed speech and language development	1861	TOR1A	OMIM:618947
HP:0000750	Delayed speech and language development	79853	TM4SF20	OMIM:615432
HP:0000750	Delayed speech and language development	117581	TWIST2	OMIM:209885
HP:0000750	Delayed speech and language development	117581	TWIST2	OMIM:200110
HP:0000750	Delayed speech and language development	117581	TWIST2	ORPHA:920
HP:0000750	Delayed speech and language development	23040	MYT1L	OMIM:616521
HP:0000750	Delayed speech and language development	23040	MYT1L	ORPHA:647799
HP:0000750	Delayed speech and language development	8936	WASF1	OMIM:618707
HP:0000750	Delayed speech and language development	6697	SPR	ORPHA:70594
HP:0000750	Delayed speech and language development	26503	SLC17A5	OMIM:604369
HP:0000750	Delayed speech and language development	80210	ARMC9	OMIM:617622
HP:0000750	Delayed speech and language development	81562	LMAN2L	OMIM:617863
HP:0000750	Delayed speech and language development	84628	NTNG2	OMIM:618718
HP:0000750	Delayed speech and language development	139285	AMER1	OMIM:300373
HP:0000750	Delayed speech and language development	259266	ASPM	OMIM:608716
HP:0000750	Delayed speech and language development	54888	NSUN2	OMIM:611091
HP:0000750	Delayed speech and language development	54888	NSUN2	ORPHA:235
HP:0000750	Delayed speech and language development	54802	TRIT1	OMIM:617873
HP:0000750	Delayed speech and language development	7518	XRCC4	OMIM:616541
HP:0000750	Delayed speech and language development	4763	NF1	ORPHA:139474
HP:0000750	Delayed speech and language development	4763	NF1	OMIM:601321
HP:0000750	Delayed speech and language development	10274	STAG1	OMIM:617635
HP:0000750	Delayed speech and language development	51317	PHF21A	OMIM:618725
HP:0000750	Delayed speech and language development	2806	GOT2	OMIM:618721
HP:0000750	Delayed speech and language development	1788	DNMT3A	OMIM:618724
HP:0000750	Delayed speech and language development	3778	KCNMA1	OMIM:618729
HP:0000750	Delayed speech and language development	3778	KCNMA1	OMIM:617643
HP:0000750	Delayed speech and language development	2182	ACSL4	OMIM:300387
HP:0000750	Delayed speech and language development	9699	RIMS2	OMIM:618970
HP:0000750	Delayed speech and language development	1968	EIF2S3	OMIM:300148
HP:0000750	Delayed speech and language development	672	BRCA1	OMIM:617883
HP:0000750	Delayed speech and language development	5087	PBX1	OMIM:617641
HP:0000750	Delayed speech and language development	523	ATP6V1A	OMIM:617403
HP:0000750	Delayed speech and language development	523	ATP6V1A	ORPHA:442835
HP:0000750	Delayed speech and language development	523	ATP6V1A	ORPHA:357074
HP:0000750	Delayed speech and language development	84148	KAT8	OMIM:618974
HP:0000750	Delayed speech and language development	27034	ACAD8	ORPHA:79159
HP:0000750	Delayed speech and language development	7528	YY1	ORPHA:506358
HP:0000750	Delayed speech and language development	7528	YY1	OMIM:617557
HP:0000750	Delayed speech and language development	2218	FKTN	ORPHA:272
HP:0000750	Delayed speech and language development	8367	H4C5	OMIM:619950
HP:0000750	Delayed speech and language development	91452	ACBD5	OMIM:618863
HP:0000750	Delayed speech and language development	5728	PTEN	OMIM:605309
HP:0000750	Delayed speech and language development	5728	PTEN	ORPHA:210548
HP:0000750	Delayed speech and language development	9853	RUSC2	OMIM:617773
HP:0000750	Delayed speech and language development	9524	TECR	OMIM:614020
HP:0000750	Delayed speech and language development	4750	NEK1	OMIM:263520
HP:0000750	Delayed speech and language development	23446	SLC44A1	OMIM:618868
HP:0000750	Delayed speech and language development	6873	TAF2	OMIM:615599
HP:0000750	Delayed speech and language development	2895	GRID2	OMIM:616204
HP:0000750	Delayed speech and language development	10054	UBA2	OMIM:619959
HP:0000750	Delayed speech and language development	2972	BRF1	OMIM:616202
HP:0000750	Delayed speech and language development	10973	ASCC3	OMIM:620700
HP:0000750	Delayed speech and language development	3703	STT3A	OMIM:619714
HP:0000750	Delayed speech and language development	84942	WDR73	OMIM:251300
HP:0000750	Delayed speech and language development	116931	MED12L	OMIM:618872
HP:0000750	Delayed speech and language development	3020	H3-3A	OMIM:619720
HP:0000750	Delayed speech and language development	7552	ZNF711	OMIM:300803
HP:0000750	Delayed speech and language development	1630	DCC	OMIM:617542
HP:0000750	Delayed speech and language development	51111	KMT5B	OMIM:617788
HP:0000750	Delayed speech and language development	80155	NAA15	OMIM:617787
HP:0000750	Delayed speech and language development	472	ATM	OMIM:208900
HP:0000750	Delayed speech and language development	10501	SEMA6B	OMIM:618876
HP:0000750	Delayed speech and language development	8309	ACOX2	OMIM:617308
HP:0000750	Delayed speech and language development	10381	TUBB3	OMIM:614039
HP:0000750	Delayed speech and language development	57156	TMEM63C	OMIM:619966
HP:0000750	Delayed speech and language development	28960	DCPS	OMIM:616459
HP:0000750	Delayed speech and language development	27102	EIF2AK1	OMIM:618878
HP:0000750	Delayed speech and language development	3781	KCNN2	OMIM:619725
HP:0000750	Delayed speech and language development	5189	PEX1	OMIM:214100
HP:0000750	Delayed speech and language development	5189	PEX1	OMIM:601539
HP:0000750	Delayed speech and language development	6660	SOX5	ORPHA:313892
HP:0000750	Delayed speech and language development	6660	SOX5	OMIM:616803
HP:0000750	Delayed speech and language development	137492	VPS37A	ORPHA:319199
HP:0000750	Delayed speech and language development	137492	VPS37A	OMIM:614898
HP:0000750	Delayed speech and language development	83696	TRAPPC9	OMIM:613192
HP:0000750	Delayed speech and language development	129685	TAF8	OMIM:619972
HP:0000750	Delayed speech and language development	2590	GALNT2	OMIM:618885
HP:0000750	Delayed speech and language development	55870	ASH1L	OMIM:617796
HP:0000750	Delayed speech and language development	535	ATP6V0A1	OMIM:619970
HP:0000750	Delayed speech and language development	816	CAMK2B	OMIM:617799
HP:0000750	Delayed speech and language development	815	CAMK2A	OMIM:617798
HP:0000750	Delayed speech and language development	23184	MESD	OMIM:618644
HP:0000750	Delayed speech and language development	51319	RSRC1	OMIM:618402
HP:0000750	Delayed speech and language development	8560	DEGS1	OMIM:618404
HP:0000750	Delayed speech and language development	157680	VPS13B	OMIM:216550
HP:0000750	Delayed speech and language development	8726	EED	OMIM:617561
HP:0000750	Delayed speech and language development	10715	CERS1	OMIM:616230
HP:0000750	Delayed speech and language development	1656	DDX6	OMIM:618653
HP:0000750	Delayed speech and language development	2744	GLS	OMIM:618412
HP:0000750	Delayed speech and language development	5442	POLRMT	OMIM:619743
HP:0000750	Delayed speech and language development	6712	SPTBN2	OMIM:615386
HP:0000750	Delayed speech and language development	6712	SPTBN2	ORPHA:352403
HP:0000750	Delayed speech and language development	4297	KMT2A	ORPHA:319182
HP:0000750	Delayed speech and language development	4297	KMT2A	OMIM:605130
HP:0000750	Delayed speech and language development	55714	TENM3	OMIM:615145
HP:0000750	Delayed speech and language development	83636	C19orf12	OMIM:614298
HP:0000750	Delayed speech and language development	833	CARS1	OMIM:618891
HP:0000750	Delayed speech and language development	57178	ZMIZ1	OMIM:618659
HP:0000750	Delayed speech and language development	2783	GNB2	OMIM:619503
HP:0000750	Delayed speech and language development	26057	ANKRD17	OMIM:619504
HP:0000750	Delayed speech and language development	3737	KCNA2	ORPHA:442835
HP:0000750	Delayed speech and language development	1759	DNM1	ORPHA:442835
HP:0000750	Delayed speech and language development	8120	AP3B2	ORPHA:442835
HP:0000750	Delayed speech and language development	10991	SLC38A3	ORPHA:442835
HP:0000750	Delayed speech and language development	3747	KCNC2	ORPHA:442835
HP:0000750	Delayed speech and language development	1917	EEF1A2	ORPHA:442835
HP:0000750	Delayed speech and language development	1917	EEF1A2	OMIM:616409
HP:0000750	Delayed speech and language development	23219	FBXO28	ORPHA:442835
HP:0000750	Delayed speech and language development	2561	GABRB2	ORPHA:442835
HP:0000750	Delayed speech and language development	8831	SYNGAP1	ORPHA:442835
HP:0000750	Delayed speech and language development	8831	SYNGAP1	ORPHA:1942
HP:0000750	Delayed speech and language development	8831	SYNGAP1	ORPHA:544254
HP:0000750	Delayed speech and language development	2558	GABRA5	ORPHA:442835
HP:0000750	Delayed speech and language development	2906	GRIN2D	ORPHA:442835
HP:0000750	Delayed speech and language development	1213	CLTC	ORPHA:442835
HP:0000750	Delayed speech and language development	51741	WWOX	ORPHA:442835
HP:0000750	Delayed speech and language development	51741	WWOX	ORPHA:284282
HP:0000750	Delayed speech and language development	23334	SZT2	ORPHA:442835
HP:0000750	Delayed speech and language development	348980	HCN1	ORPHA:442835
HP:0000750	Delayed speech and language development	348980	HCN1	OMIM:618482
HP:0000750	Delayed speech and language development	25977	NECAP1	ORPHA:442835
HP:0000750	Delayed speech and language development	16	AARS1	ORPHA:442835
HP:0000750	Delayed speech and language development	9568	GABBR2	ORPHA:442835
HP:0000750	Delayed speech and language development	2555	GABRA2	ORPHA:442835
HP:0000750	Delayed speech and language development	55152	DALRD3	ORPHA:442835
HP:0000750	Delayed speech and language development	26999	CYFIP2	ORPHA:442835
HP:0000750	Delayed speech and language development	4915	NTRK2	ORPHA:442835
HP:0000750	Delayed speech and language development	25973	PARS2	ORPHA:442835
HP:0000750	Delayed speech and language development	23097	CDK19	ORPHA:442835
HP:0000750	Delayed speech and language development	2257	FGF12	ORPHA:442835
HP:0000750	Delayed speech and language development	5530	PPP3CA	ORPHA:442835
HP:0000750	Delayed speech and language development	22906	TRAK1	ORPHA:442835
HP:0000750	Delayed speech and language development	2566	GABRG2	ORPHA:442835
HP:0000750	Delayed speech and language development	7532	YWHAG	ORPHA:442835
HP:0000750	Delayed speech and language development	79876	UBA5	ORPHA:442835
HP:0000750	Delayed speech and language development	6328	SCN3A	ORPHA:442835
HP:0000750	Delayed speech and language development	6328	SCN3A	OMIM:617935
HP:0000750	Delayed speech and language development	781	CACNA2D1	ORPHA:442835
HP:0000750	Delayed speech and language development	10659	CELF2	ORPHA:442835
HP:0000750	Delayed speech and language development	10659	CELF2	OMIM:619561
HP:0000750	Delayed speech and language development	774	CACNA1B	ORPHA:442835
HP:0000750	Delayed speech and language development	51412	ACTL6B	ORPHA:442835
HP:0000750	Delayed speech and language development	6506	SLC1A2	ORPHA:442835
HP:0000750	Delayed speech and language development	8867	SYNJ1	ORPHA:442835
HP:0000750	Delayed speech and language development	3745	KCNB1	ORPHA:442835
HP:0000750	Delayed speech and language development	284111	SLC13A5	ORPHA:442835
HP:0000750	Delayed speech and language development	6323	SCN1A	ORPHA:442835
HP:0000750	Delayed speech and language development	6323	SCN1A	ORPHA:1942
HP:0000750	Delayed speech and language development	55623	THUMPD1	OMIM:619989
HP:0000750	Delayed speech and language development	284439	SLC25A42	OMIM:618416
HP:0000750	Delayed speech and language development	56006	SMG9	OMIM:619995
HP:0000750	Delayed speech and language development	1182	CLCN3	OMIM:619512
HP:0000750	Delayed speech and language development	29081	METTL5	OMIM:618665
HP:0000750	Delayed speech and language development	10717	AP4B1	OMIM:614066
HP:0000750	Delayed speech and language development	7862	BRPF1	OMIM:617333
HP:0000750	Delayed speech and language development	54914	FOCAD	OMIM:619991
HP:0000750	Delayed speech and language development	8363	H4C11	OMIM:619759
HP:0000750	Delayed speech and language development	2550	GABBR1	OMIM:620502
HP:0000750	Delayed speech and language development	2592	GALT	OMIM:230400
HP:0000750	Delayed speech and language development	2592	GALT	ORPHA:79239
HP:0000750	Delayed speech and language development	7701	ZNF142	OMIM:618425
HP:0000750	Delayed speech and language development	6899	TBX1	ORPHA:1727
HP:0000750	Delayed speech and language development	6899	TBX1	OMIM:188400
HP:0000750	Delayed speech and language development	8659	ALDH4A1	ORPHA:79101
HP:0000750	Delayed speech and language development	93986	FOXP2	ORPHA:251061
HP:0000750	Delayed speech and language development	93986	FOXP2	ORPHA:209908
HP:0000750	Delayed speech and language development	93986	FOXP2	OMIM:602081
HP:0000750	Delayed speech and language development	26137	ZBTB20	OMIM:259050
HP:0000750	Delayed speech and language development	8314	BAP1	OMIM:619762
HP:0000750	Delayed speech and language development	10021	HCN4	OMIM:619521
HP:0000750	Delayed speech and language development	7750	ZMYM2	OMIM:619522
HP:0000750	Delayed speech and language development	6942	TCF20	OMIM:618430
HP:0000750	Delayed speech and language development	2720	GLB1	OMIM:230650
HP:0000750	Delayed speech and language development	22	ABCB7	ORPHA:2802
HP:0000750	Delayed speech and language development	10297	APC2	OMIM:618677
HP:0000750	Delayed speech and language development	10297	APC2	OMIM:617169
HP:0000750	Delayed speech and language development	57466	SCAF4	OMIM:620511
HP:0000750	Delayed speech and language development	256471	MFSD8	OMIM:610951
HP:0000750	Delayed speech and language development	51341	ZBTB7A	OMIM:619769
HP:0000750	Delayed speech and language development	9338	TCEAL1	OMIM:301094
HP:0000750	Delayed speech and language development	7030	TFE3	OMIM:301066
HP:0000750	Delayed speech and language development	4123	MAN2C1	OMIM:619775
HP:0000750	Delayed speech and language development	54941	RNF125	OMIM:616260
HP:0000750	Delayed speech and language development	85365	ALG2	OMIM:607906
HP:0000750	Delayed speech and language development	259232	NALCN	OMIM:616266
HP:0000750	Delayed speech and language development	259232	NALCN	ORPHA:562528
HP:0000750	Delayed speech and language development	259232	NALCN	ORPHA:371364
HP:0000750	Delayed speech and language development	10463	SLC30A9	OMIM:617595
HP:0000750	Delayed speech and language development	57479	PRR12	OMIM:619539
HP:0000750	Delayed speech and language development	6709	SPTAN1	OMIM:620528
HP:0000750	Delayed speech and language development	6709	SPTAN1	OMIM:620540
HP:0000750	Delayed speech and language development	1107	CHD3	OMIM:618205
HP:0000750	Delayed speech and language development	85459	CEP295	OMIM:620767
HP:0000750	Delayed speech and language development	79087	ALG12	ORPHA:79324
HP:0000750	Delayed speech and language development	1173	AP2M1	ORPHA:1942
HP:0000750	Delayed speech and language development	1106	CHD2	ORPHA:1942
HP:0000750	Delayed speech and language development	6529	SLC6A1	ORPHA:1942
HP:0000750	Delayed speech and language development	25981	DNAH1	ORPHA:244
HP:0000750	Delayed speech and language development	115948	ODAD3	ORPHA:244
HP:0000750	Delayed speech and language development	54768	HYDIN	ORPHA:244
HP:0000750	Delayed speech and language development	352909	DNAAF3	ORPHA:244
HP:0000750	Delayed speech and language development	27148	STK36	ORPHA:244
HP:0000750	Delayed speech and language development	51314	NME8	ORPHA:244
HP:0000750	Delayed speech and language development	92749	DRC1	ORPHA:244
HP:0000750	Delayed speech and language development	54970	TTC12	ORPHA:244
HP:0000750	Delayed speech and language development	152110	NEK10	ORPHA:244
HP:0000750	Delayed speech and language development	8481	OFD1	ORPHA:244
HP:0000750	Delayed speech and language development	2302	FOXJ1	ORPHA:244
HP:0000750	Delayed speech and language development	221421	RSPH9	ORPHA:244
HP:0000750	Delayed speech and language development	85478	CCDC65	ORPHA:244
HP:0000750	Delayed speech and language development	55036	CCDC40	ORPHA:244
HP:0000750	Delayed speech and language development	51364	ZMYND10	ORPHA:244
HP:0000750	Delayed speech and language development	64446	DNAI2	ORPHA:244
HP:0000750	Delayed speech and language development	8382	NME5	ORPHA:244
HP:0000750	Delayed speech and language development	6674	SPAG1	ORPHA:244
HP:0000750	Delayed speech and language development	83544	DNAL1	ORPHA:244
HP:0000750	Delayed speech and language development	89765	RSPH1	ORPHA:244
HP:0000750	Delayed speech and language development	83538	ODAD4	ORPHA:244
HP:0000750	Delayed speech and language development	200373	CFAP221	ORPHA:244
HP:0000750	Delayed speech and language development	374407	DNAJB13	ORPHA:244
HP:0000750	Delayed speech and language development	55172	DNAAF2	ORPHA:244
HP:0000750	Delayed speech and language development	161582	DNAAF4	ORPHA:244
HP:0000750	Delayed speech and language development	2622	GAS8	ORPHA:244
HP:0000750	Delayed speech and language development	23639	DNAAF11	ORPHA:244
HP:0000750	Delayed speech and language development	27019	DNAI1	ORPHA:244
HP:0000750	Delayed speech and language development	345895	RSPH4A	ORPHA:244
HP:0000750	Delayed speech and language development	54919	DNAAF5	ORPHA:244
HP:0000750	Delayed speech and language development	6103	RPGR	ORPHA:244
HP:0000750	Delayed speech and language development	85452	CFAP74	ORPHA:244
HP:0000750	Delayed speech and language development	93233	ODAD1	ORPHA:244
HP:0000750	Delayed speech and language development	55130	ODAD2	ORPHA:244
HP:0000750	Delayed speech and language development	1767	DNAH5	ORPHA:244
HP:0000750	Delayed speech and language development	83861	RSPH3	ORPHA:244
HP:0000750	Delayed speech and language development	345643	MCIDAS	ORPHA:244
HP:0000750	Delayed speech and language development	56683	CFAP298	ORPHA:244
HP:0000750	Delayed speech and language development	79925	SPEF2	ORPHA:244
HP:0000750	Delayed speech and language development	10309	CCNO	ORPHA:244
HP:0000750	Delayed speech and language development	115399	LRRC56	ORPHA:244
HP:0000750	Delayed speech and language development	139212	DNAAF6	ORPHA:244
HP:0000750	Delayed speech and language development	123872	DNAAF1	ORPHA:244
HP:0000750	Delayed speech and language development	85016	CFAP300	ORPHA:244
HP:0000750	Delayed speech and language development	339829	CCDC39	ORPHA:244
HP:0000750	Delayed speech and language development	8701	DNAH11	ORPHA:244
HP:0000750	Delayed speech and language development	1770	DNAH9	ORPHA:244
HP:0000750	Delayed speech and language development	246176	GAS2L2	ORPHA:244
HP:0000750	Delayed speech and language development	10262	SF3B4	ORPHA:245
HP:0000750	Delayed speech and language development	10262	SF3B4	OMIM:154400
HP:0000750	Delayed speech and language development	2742	GLRA2	OMIM:301076
HP:0000750	Delayed speech and language development	9896	FIG4	ORPHA:208441
HP:0000750	Delayed speech and language development	26100	WIPI2	OMIM:618453
HP:0000750	Delayed speech and language development	8295	TRRAP	OMIM:618454
HP:0000750	Delayed speech and language development	8621	CDK13	OMIM:617360
HP:0000750	Delayed speech and language development	5256	PHKA2	ORPHA:264580
HP:0000750	Delayed speech and language development	5261	PHKG2	ORPHA:264580
HP:0000750	Delayed speech and language development	5587	PRKD1	OMIM:617364
HP:0000750	Delayed speech and language development	27133	KCNH5	OMIM:620537
HP:0000750	Delayed speech and language development	221078	NSUN6	OMIM:620779
HP:0000750	Delayed speech and language development	27145	FILIP1	OMIM:620775
HP:0000750	Delayed speech and language development	140679	SLC32A1	OMIM:620774
HP:0000750	Delayed speech and language development	8905	AP1S2	OMIM:304340
HP:0000750	Delayed speech and language development	78987	CRELD1	OMIM:620771
HP:0000750	Delayed speech and language development	54808	DYM	ORPHA:239
HP:0000750	Delayed speech and language development	55217	TMLHE	OMIM:300872
HP:0000750	Delayed speech and language development	5898	RALA	OMIM:619311
HP:0000750	Delayed speech and language development	9759	HDAC4	OMIM:619797
HP:0000750	Delayed speech and language development	9759	HDAC4	OMIM:600430
HP:0000750	Delayed speech and language development	30000	TNPO2	OMIM:619556
HP:0000750	Delayed speech and language development	6477	SIAH1	OMIM:619314
HP:0000750	Delayed speech and language development	57102	FERRY3	OMIM:618221
HP:0000750	Delayed speech and language development	51728	POLR3K	OMIM:619310
HP:0000750	Delayed speech and language development	83548	COG3	OMIM:620546
HP:0000750	Delayed speech and language development	55628	ZNF407	OMIM:619557
HP:0000750	Delayed speech and language development	11267	SNF8	OMIM:620784
HP:0000750	Delayed speech and language development	9256	TSPOAP1	ORPHA:101150
HP:0000750	Delayed speech and language development	84320	ACBD6	OMIM:620785
HP:0000750	Delayed speech and language development	4076	CAPRIN1	OMIM:620782
HP:0000750	Delayed speech and language development	1387	CREBBP	ORPHA:353281
HP:0000750	Delayed speech and language development	1387	CREBBP	OMIM:180849
HP:0000750	Delayed speech and language development	1387	CREBBP	ORPHA:353277
HP:0000750	Delayed speech and language development	56521	DNAJC12	OMIM:617384
HP:0000750	Delayed speech and language development	3714	JAG2	OMIM:619566
HP:0000750	Delayed speech and language development	10978	CLP1	ORPHA:411493
HP:0000750	Delayed speech and language development	23030	KDM4B	OMIM:619320
HP:0000750	Delayed speech and language development	443	ASPA	ORPHA:314918
HP:0000750	Delayed speech and language development	7453	WARS1	OMIM:620317
HP:0000750	Delayed speech and language development	5010	CLDN11	OMIM:619328
HP:0000750	Delayed speech and language development	6263	RYR3	OMIM:620310
HP:0000750	Delayed speech and language development	161725	OTUD7A	OMIM:620790
HP:0000750	Delayed speech and language development	1725	DHPS	OMIM:618480
HP:0000750	Delayed speech and language development	1741	DLG3	OMIM:300850
HP:0000750	Delayed speech and language development	57551	TAOK1	OMIM:619575
HP:0000750	Delayed speech and language development	25929	GEMIN5	OMIM:619333
HP:0000750	Delayed speech and language development	79641	ROGDI	OMIM:226750
HP:0000750	Delayed speech and language development	54496	PRMT7	OMIM:617157
HP:0000750	Delayed speech and language development	23476	BRD4	OMIM:620568
HP:0000750	Delayed speech and language development	84188	FAR1	OMIM:619338
HP:0000750	Delayed speech and language development	9969	MED13	OMIM:618009
HP:0000750	Delayed speech and language development	92344	GORAB	OMIM:231070
HP:0000750	Delayed speech and language development	4141	MARS1	OMIM:620323
HP:0000750	Delayed speech and language development	10157	AASS	OMIM:238700
HP:0000750	Delayed speech and language development	10157	AASS	ORPHA:2203
HP:0000750	Delayed speech and language development	23203	PMPCA	OMIM:213200
HP:0000750	Delayed speech and language development	23203	PMPCA	ORPHA:1170
HP:0000750	Delayed speech and language development	23389	MED13L	ORPHA:369891
HP:0000750	Delayed speech and language development	2898	GRIK2	OMIM:619580
HP:0000750	Delayed speech and language development	1781	DYNC1I2	OMIM:618492
HP:0000750	Delayed speech and language development	7319	UBE2A	OMIM:300860
HP:0000750	Delayed speech and language development	9496	TBX4	ORPHA:261279
HP:0000750	Delayed speech and language development	8091	HMGA2	ORPHA:94063
HP:0000750	Delayed speech and language development	8091	HMGA2	ORPHA:397590
HP:0000750	Delayed speech and language development	23592	LEMD3	ORPHA:94063
HP:0000750	Delayed speech and language development	22808	MRAS	OMIM:618499
HP:0000750	Delayed speech and language development	26040	SETBP1	OMIM:616078
HP:0000750	Delayed speech and language development	8635	RNASET2	OMIM:612951
HP:0000750	Delayed speech and language development	91039	DPP9	OMIM:620331
HP:0000750	Delayed speech and language development	23594	ORC6	OMIM:613803
HP:0000750	Delayed speech and language development	1756	DMD	ORPHA:98896
HP:0000750	Delayed speech and language development	8425	LTBP4	ORPHA:98896
HP:0000750	Delayed speech and language development	64864	RFX7	OMIM:620330
HP:0000750	Delayed speech and language development	80185	TTI2	ORPHA:391307
HP:0000750	Delayed speech and language development	80185	TTI2	OMIM:615541
HP:0000750	Delayed speech and language development	2628	GATM	OMIM:612718
HP:0000750	Delayed speech and language development	10771	ZMYND11	OMIM:616083
HP:0000750	Delayed speech and language development	6611	SMS	ORPHA:3063
HP:0000750	Delayed speech and language development	7068	THRB	OMIM:188570
HP:0000750	Delayed speech and language development	5977	DPF2	OMIM:618027
HP:0000750	Delayed speech and language development	35	ACADS	OMIM:201470
HP:0000750	Delayed speech and language development	35	ACADS	ORPHA:26792
HP:0000750	Delayed speech and language development	10847	SRCAP	OMIM:619595
HP:0000750	Delayed speech and language development	10847	SRCAP	ORPHA:2044
HP:0000750	Delayed speech and language development	10847	SRCAP	OMIM:136140
HP:0000750	Delayed speech and language development	55526	DHTKD1	OMIM:204750
HP:0000750	Delayed speech and language development	3839	KPNA3	OMIM:620106
HP:0000750	Delayed speech and language development	79005	SCNM1	OMIM:620107
HP:0000750	Delayed speech and language development	1605	DAG1	OMIM:613818
HP:0000750	Delayed speech and language development	84172	POLR1B	ORPHA:861
HP:0000750	Delayed speech and language development	9533	POLR1C	ORPHA:861
HP:0000750	Delayed speech and language development	6949	TCOF1	ORPHA:861
HP:0000750	Delayed speech and language development	55210	ATAD3A	OMIM:617183
HP:0000750	Delayed speech and language development	2077	ERF	OMIM:617180
HP:0000750	Delayed speech and language development	2077	ERF	OMIM:600775
HP:0000750	Delayed speech and language development	90522	YIF1B	OMIM:619125
HP:0000750	Delayed speech and language development	29123	ANKRD11	ORPHA:261250
HP:0000750	Delayed speech and language development	6197	RPS6KA3	OMIM:300844
HP:0000750	Delayed speech and language development	1200	TPP1	OMIM:204500
HP:0000750	Delayed speech and language development	118924	FRA10AC1	OMIM:620113
HP:0000750	Delayed speech and language development	2593	GAMT	OMIM:612736
HP:0000750	Delayed speech and language development	55252	ASXL2	OMIM:617190
HP:0000750	Delayed speech and language development	6904	TBCD	OMIM:617193
HP:0000750	Delayed speech and language development	4508	MT-ATP6	ORPHA:225154
HP:0000750	Delayed speech and language development	23636	NUP62	ORPHA:225154
HP:0000750	Delayed speech and language development	53371	NUP54	ORPHA:225154
HP:0000750	Delayed speech and language development	103	ADAR	ORPHA:225154
HP:0000750	Delayed speech and language development	3739	KCNA4	OMIM:618284
HP:0000750	Delayed speech and language development	23154	NCDN	OMIM:619373
HP:0000750	Delayed speech and language development	4781	NFIB	OMIM:618286
HP:0000750	Delayed speech and language development	55074	OXR1	OMIM:213000
HP:0000750	Delayed speech and language development	11011	TLK2	OMIM:618050
HP:0000750	Delayed speech and language development	27161	AGO2	OMIM:619149
HP:0000750	Delayed speech and language development	8665	EIF3F	OMIM:618295
HP:0000750	Delayed speech and language development	221927	BRAT1	OMIM:618056
HP:0000750	Delayed speech and language development	267	AMFR	OMIM:620379
HP:0000750	Delayed speech and language development	161742	SPRED1	ORPHA:137605
HP:0000750	Delayed speech and language development	64858	DCLRE1B	OMIM:620133
HP:0000750	Delayed speech and language development	3480	IGF1R	OMIM:270450
HP:0000750	Delayed speech and language development	9325	TRIP4	ORPHA:486815
HP:0000750	Delayed speech and language development	90952	ESAM	OMIM:620371
HP:0000750	Delayed speech and language development	11113	CIT	OMIM:617090
HP:0000750	Delayed speech and language development	4702	NDUFA8	OMIM:619272
HP:0000750	Delayed speech and language development	27183	VPS4A	OMIM:619273
HP:0000750	Delayed speech and language development	10128	LRPPRC	OMIM:220111
HP:0000750	Delayed speech and language development	7337	UBE3A	ORPHA:238446
HP:0000750	Delayed speech and language development	58499	ZNF462	ORPHA:502430
HP:0000750	Delayed speech and language development	58499	ZNF462	OMIM:618619
HP:0000750	Delayed speech and language development	158	ADSL	OMIM:103050
HP:0000750	Delayed speech and language development	375	ARF1	OMIM:618185
HP:0000750	Delayed speech and language development	23019	CNOT1	OMIM:619033
HP:0000750	Delayed speech and language development	55503	TRPV6	OMIM:618188
HP:0000750	Delayed speech and language development	775	CACNA1C	OMIM:620029
HP:0000750	Delayed speech and language development	7109	TRAPPC10	OMIM:620027
HP:0000750	Delayed speech and language development	55777	MBD5	ORPHA:228402
HP:0000750	Delayed speech and language development	132158	GLYCTK	ORPHA:941
HP:0000750	Delayed speech and language development	501	ALDH7A1	OMIM:266100
HP:0000750	Delayed speech and language development	9442	MED27	OMIM:619286
HP:0000750	Delayed speech and language development	4649	MYO9A	OMIM:618198
HP:0000750	Delayed speech and language development	25914	RTTN	OMIM:614833
HP:0000750	Delayed speech and language development	25782	RAB3GAP2	OMIM:212720
HP:0000750	Delayed speech and language development	6595	SMARCA2	OMIM:619293
HP:0000750	Delayed speech and language development	7102	TSPAN7	OMIM:300210
HP:0000750	Delayed speech and language development	57492	ARID1B	OMIM:135900
HP:0000750	Delayed speech and language development	116228	COX20	OMIM:619054
HP:0000750	Delayed speech and language development	26277	TINF2	OMIM:613990
HP:0000750	Delayed speech and language development	9739	SETD1A	OMIM:619056
HP:0000750	Delayed speech and language development	340024	SLC6A19	OMIM:234500
HP:0000750	Delayed speech and language development	8289	ARID1A	OMIM:614607
HP:0000750	Delayed speech and language development	158326	FREM1	ORPHA:3366
HP:0000750	Delayed speech and language development	10716	TBR1	OMIM:606053
HP:0000750	Delayed speech and language development	26523	AGO1	OMIM:620292
HP:0000750	Delayed speech and language development	4697	NDUFA4	OMIM:619065
HP:0000750	Delayed speech and language development	79813	EHMT1	OMIM:610253
HP:0000750	Delayed speech and language development	79813	EHMT1	ORPHA:261652
HP:0000750	Delayed speech and language development	5144	PDE4D	OMIM:614613
HP:0000750	Delayed speech and language development	10382	TUBB4A	OMIM:612438
HP:0000750	Delayed speech and language development	5230	PGK1	ORPHA:713
HP:0000750	Delayed speech and language development	5230	PGK1	OMIM:300653
HP:0000750	Delayed speech and language development	7915	ALDH5A1	OMIM:271980
HP:0000750	Delayed speech and language development	2697	GJA1	OMIM:257850
HP:0000750	Delayed speech and language development	2615	LRRC32	OMIM:619074
HP:0000750	Delayed speech and language development	4953	ODC1	OMIM:619075
HP:0000750	Delayed speech and language development	9289	ADGRG1	ORPHA:98889
HP:0000750	Delayed speech and language development	5297	PI4KA	ORPHA:98889
HP:0000750	Delayed speech and language development	5297	PI4KA	OMIM:619708
HP:0000750	Delayed speech and language development	22859	ADGRL1	OMIM:620065
HP:0000750	Delayed speech and language development	6558	SLC12A2	OMIM:619083
HP:0000750	Delayed speech and language development	58508	KMT2C	ORPHA:261652
HP:0000750	Delayed speech and language development	58508	KMT2C	OMIM:617768
HP:0000750	Delayed speech and language development	5594	MAPK1	OMIM:619087
HP:0000750	Delayed speech and language development	3481	IGF2	ORPHA:397590
HP:0000750	Delayed speech and language development	1028	CDKN1C	ORPHA:397590
HP:0000750	Delayed speech and language development	5324	PLAG1	ORPHA:397590
HP:0000750	Delayed speech and language development	284217	LAMA1	OMIM:615960
HP:0000750	Delayed speech and language development	284217	LAMA1	ORPHA:370022
HP:0000750	Delayed speech and language development	286262	TPRN	OMIM:613307
HP:0000750	Delayed speech and language development	51244	CCDC174	OMIM:616816
HP:0000750	Delayed speech and language development	54862	CC2D1A	OMIM:608443
HP:0000750	Delayed speech and language development	23065	EMC1	ORPHA:480898
HP:0000750	Delayed speech and language development	23065	EMC1	OMIM:616875
HP:0000750	Delayed speech and language development	10430	TMEM147	OMIM:620075
HP:0000750	Delayed speech and language development	11152	WDR45	OMIM:300894
HP:0000750	Delayed speech and language development	22880	MORC2	OMIM:619090
HP:0000750	Delayed speech and language development	5295	PIK3R1	OMIM:269880
HP:0000750	Delayed speech and language development	4677	NARS1	OMIM:619091
HP:0000750	Delayed speech and language development	4677	NARS1	OMIM:619092
HP:0000750	Delayed speech and language development	50484	RRM2B	OMIM:268315
HP:0000750	Delayed speech and language development	254065	BRWD3	OMIM:300659
HP:0000750	Delayed speech and language development	9147	NEMF	OMIM:619099
HP:0000750	Delayed speech and language development	26047	CNTNAP2	OMIM:610042
HP:0000750	Delayed speech and language development	26047	CNTNAP2	ORPHA:163681
HP:0000750	Delayed speech and language development	1384	CRAT	OMIM:617917
HP:0000750	Delayed speech and language development	85021	REPS1	OMIM:617916
HP:0000750	Delayed speech and language development	1487	CTBP1	OMIM:617915
HP:0000750	Delayed speech and language development	197322	ACSF3	ORPHA:289504
HP:0000750	Delayed speech and language development	54413	NLGN3	OMIM:300425
HP:0000750	Delayed speech and language development	9775	EIF4A3	OMIM:268305
HP:0000750	Delayed speech and language development	93183	PIGM	OMIM:610293
HP:0000750	Delayed speech and language development	2703	GJA8	OMIM:612474
HP:0000750	Delayed speech and language development	2702	GJA5	OMIM:612474
HP:0000750	Delayed speech and language development	867	CBL	OMIM:613563
HP:0000750	Delayed speech and language development	29072	SETD2	OMIM:616831
HP:0000750	Delayed speech and language development	3897	L1CAM	ORPHA:2466
HP:0000750	Delayed speech and language development	51053	GMNN	OMIM:616835
HP:0000750	Delayed speech and language development	2719	GPC3	OMIM:312870
HP:0000750	Delayed speech and language development	2239	GPC4	OMIM:312870
HP:0000750	Delayed speech and language development	27152	INTU	OMIM:617926
HP:0000750	Delayed speech and language development	274	BIN1	ORPHA:169186
HP:0000750	Delayed speech and language development	10290	SPEG	ORPHA:169186
HP:0000750	Delayed speech and language development	6261	RYR1	ORPHA:169186
HP:0000750	Delayed speech and language development	7273	TTN	ORPHA:169186
HP:0000750	Delayed speech and language development	9158	FIBP	ORPHA:500095
HP:0000750	Delayed speech and language development	4683	NBN	OMIM:251260
HP:0000750	Delayed speech and language development	9698	PUM1	OMIM:617931
HP:0000750	Delayed speech and language development	29926	GMPPA	OMIM:615510
HP:0000750	Delayed speech and language development	85358	SHANK3	OMIM:606232
HP:0000750	Delayed speech and language development	658	BMPR1B	OMIM:616849
HP:0000750	Delayed speech and language development	57511	COG6	ORPHA:363523
HP:0000750	Delayed speech and language development	57511	COG6	OMIM:615328
HP:0000750	Delayed speech and language development	113179	ADAT3	ORPHA:363528
HP:0000750	Delayed speech and language development	55784	MCTP2	ORPHA:1596
HP:0000750	Delayed speech and language development	5831	PYCR1	OMIM:614438
HP:0000750	Delayed speech and language development	3736	KCNA1	ORPHA:37612
HP:0000750	Delayed speech and language development	26224	FBXL3	OMIM:606220
HP:0000750	Delayed speech and language development	4204	MECP2	OMIM:300055
HP:0000750	Delayed speech and language development	4204	MECP2	OMIM:300496
HP:0000750	Delayed speech and language development	10484	SEC23A	ORPHA:50814
HP:0000750	Delayed speech and language development	7874	USP7	OMIM:616863
HP:0000750	Delayed speech and language development	7874	USP7	ORPHA:500055
HP:0000750	Delayed speech and language development	55603	TENT5A	OMIM:617952
HP:0000750	Delayed speech and language development	26007	TKFC	OMIM:618805
HP:0000750	Delayed speech and language development	27315	PGAP2	OMIM:614207
HP:0000750	Delayed speech and language development	64131	XYLT1	OMIM:615777
HP:0000750	Delayed speech and language development	5257	PHKB	ORPHA:79240
HP:0000750	Delayed speech and language development	128989	TANGO2	ORPHA:480864
HP:0000750	Delayed speech and language development	5718	PSMD12	ORPHA:529962
HP:0000750	Delayed speech and language development	5718	PSMD12	OMIM:617516
HP:0000750	Delayed speech and language development	2186	BPTF	ORPHA:529962
HP:0000750	Delayed speech and language development	2186	BPTF	OMIM:617755
HP:0000750	Delayed speech and language development	54664	TMEM106B	OMIM:617964
HP:0000750	Delayed speech and language development	4287	ATXN3	ORPHA:276238
HP:0000750	Delayed speech and language development	4287	ATXN3	ORPHA:276244
HP:0000750	Delayed speech and language development	4287	ATXN3	ORPHA:276241
HP:0000750	Delayed speech and language development	27010	TPK1	OMIM:614458
HP:0000750	Delayed speech and language development	55644	OSGEP	OMIM:617729
HP:0000750	Delayed speech and language development	57572	DOCK6	OMIM:614219
HP:0000750	Delayed speech and language development	54658	UGT1A1	ORPHA:79234
HP:0000750	Delayed speech and language development	7074	TIAM1	OMIM:619908
HP:0000750	Delayed speech and language development	2464	FRA16E	OMIM:136570
HP:0000750	Delayed speech and language development	112858	TP53RK	OMIM:617730
HP:0000750	Delayed speech and language development	2737	GLI3	OMIM:175700
HP:0000750	Delayed speech and language development	1778	DYNC1H1	OMIM:614228
HP:0000750	Delayed speech and language development	4929	NR4A2	OMIM:619911
HP:0000750	Delayed speech and language development	285175	UNC80	ORPHA:371364
HP:0000750	Delayed speech and language development	8405	SPOP	OMIM:618828
HP:0000750	Delayed speech and language development	8405	SPOP	OMIM:618829
HP:0000750	Delayed speech and language development	26576	SRPK3	OMIM:301134
HP:0000750	Delayed speech and language development	10585	POMT1	ORPHA:86812
HP:0000750	Delayed speech and language development	54870	QRICH1	OMIM:617982
HP:0000750	Delayed speech and language development	4780	NFE2L2	OMIM:617744
HP:0000750	Delayed speech and language development	2890	GRIA1	OMIM:619927
HP:0000750	Delayed speech and language development	54805	CNNM2	OMIM:616418
HP:0000750	Delayed speech and language development	5500	PPP1CB	OMIM:617506
HP:0000750	Delayed speech and language development	7291	TWIST1	OMIM:617746
HP:0000750	Delayed speech and language development	126792	B3GALT6	ORPHA:536467
HP:0000750	Delayed speech and language development	57502	NLGN4X	OMIM:300495
HP:0000750	Delayed speech and language development	4047	LSS	OMIM:618840
HP:0000750	Delayed speech and language development	9320	TRIP12	OMIM:617752
HP:0000750	Delayed speech and language development	529	ATP6V1E1	ORPHA:357074
HP:0000750	Delayed speech and language development	84631	SLITRK2	OMIM:301107
HP:0000750	Delayed speech and language development	51780	KDM3B	OMIM:618846
HP:0000750	Delayed speech and language development	8575	PRKRA	OMIM:612067
HP:0000750	Delayed speech and language development	5455	POU3F3	OMIM:618604
HP:0000750	Delayed speech and language development	119559	SFXN4	OMIM:615578
HP:0000750	Delayed speech and language development	9439	MED23	OMIM:614249
HP:0000750	Delayed speech and language development	4848	CNOT2	OMIM:618608
HP:0000750	Delayed speech and language development	1807	DPYS	OMIM:222748
HP:0000750	Delayed speech and language development	2639	GCDH	OMIM:231670
HP:0000750	Delayed speech and language development	9203	ZMYM3	OMIM:301111
HP:0000750	Delayed speech and language development	23133	PHF8	OMIM:300263
HP:0000750	Delayed speech and language development	84706	GPT2	ORPHA:477673
HP:0000750	Delayed speech and language development	23404	EXOSC2	OMIM:617763
HP:0000750	Delayed speech and language development	1478	CSTF2	OMIM:301116
HP:0000750	Delayed speech and language development	22978	NT5C2	OMIM:613162
HP:0000750	Delayed speech and language development	7543	ZFX	OMIM:301118
HP:0000750	Delayed speech and language development	8738	CRADD	OMIM:614499
HP:0000750	Delayed speech and language development	4858	NOVA2	OMIM:618859
HP:0000750	Delayed speech and language development	9181	ARHGEF2	OMIM:617523
HP:0000750	Delayed speech and language development	547	KIF1A	OMIM:614255
HP:0000750	Delayed speech and language development	2582	GALE	OMIM:230350
HP:0000750	Delayed speech and language development	2137	EXTL3	ORPHA:508533
HP:0000750	Delayed speech and language development	29925	GMPPB	OMIM:615350
HP:0000750	Delayed speech and language development	104	ADARB1	OMIM:618862
HP:0000750	Delayed speech and language development	55823	VPS11	OMIM:616683
HP:0000750	Delayed speech and language development	55823	VPS11	ORPHA:466934
HP:0000750	Delayed speech and language development	2775	GNAO1	OMIM:615473
HP:0000750	Delayed speech and language development	2775	GNAO1	OMIM:617493
HP:0000750	Delayed speech and language development	51569	UFM1	OMIM:617899
HP:0000750	Delayed speech and language development	9254	CACNA2D2	OMIM:618501
HP:0000750	Delayed speech and language development	7360	UGP2	OMIM:618744
HP:0000750	Delayed speech and language development	5927	KDM5A	OMIM:620820
HP:0000750	Delayed speech and language development	79848	CSPP1	ORPHA:397715
HP:0000750	Delayed speech and language development	9786	KIAA0586	ORPHA:397715
HP:0000750	Delayed speech and language development	65993	MRPS34	OMIM:617664
HP:0000750	Delayed speech and language development	387787	LIPT2	OMIM:617668
HP:0000750	Delayed speech and language development	166378	AFG2A	OMIM:616577
HP:0000750	Delayed speech and language development	166378	AFG2A	ORPHA:457351
HP:0000750	Delayed speech and language development	65082	VPS33A	OMIM:617303
HP:0000750	Delayed speech and language development	65082	VPS33A	ORPHA:505248
HP:0000750	Delayed speech and language development	10730	YME1L1	OMIM:617302
HP:0000750	Delayed speech and language development	10565	ARFGEF1	OMIM:619964
HP:0000750	Delayed speech and language development	5610	EIF2AK2	OMIM:618877
HP:0000750	Delayed speech and language development	55768	NGLY1	ORPHA:404454
HP:0000750	Delayed speech and language development	3190	HNRNPK	OMIM:616580
HP:0000750	Delayed speech and language development	7343	UBTF	OMIM:617672
HP:0000750	Delayed speech and language development	7343	UBTF	ORPHA:500180
HP:0000750	Delayed speech and language development	150094	SIK1	OMIM:616341
HP:0000750	Delayed speech and language development	3064	HTT	OMIM:617435
HP:0000750	Delayed speech and language development	81857	MED25	ORPHA:464738
HP:0000750	Delayed speech and language development	170825	GSX2	OMIM:618646
HP:0000750	Delayed speech and language development	7920	ABHD16A	OMIM:619735
HP:0000750	Delayed speech and language development	83480	PUS3	ORPHA:488627
HP:0000750	Delayed speech and language development	283987	HID1	OMIM:619983
HP:0000750	Delayed speech and language development	22884	WDR37	OMIM:618652
HP:0000750	Delayed speech and language development	1193	CLIC2	ORPHA:324410
HP:0000750	Delayed speech and language development	28514	DLL1	ORPHA:93926
HP:0000750	Delayed speech and language development	28514	DLL1	ORPHA:93924
HP:0000750	Delayed speech and language development	28514	DLL1	ORPHA:93925
HP:0000750	Delayed speech and language development	28514	DLL1	ORPHA:220386
HP:0000750	Delayed speech and language development	2253	FGF8	ORPHA:93926
HP:0000750	Delayed speech and language development	2253	FGF8	ORPHA:93924
HP:0000750	Delayed speech and language development	2253	FGF8	ORPHA:93925
HP:0000750	Delayed speech and language development	2253	FGF8	ORPHA:220386
HP:0000750	Delayed speech and language development	6496	SIX3	ORPHA:93926
HP:0000750	Delayed speech and language development	6496	SIX3	ORPHA:93924
HP:0000750	Delayed speech and language development	6496	SIX3	ORPHA:93925
HP:0000750	Delayed speech and language development	6496	SIX3	ORPHA:220386
HP:0000750	Delayed speech and language development	7050	TGIF1	ORPHA:93926
HP:0000750	Delayed speech and language development	7050	TGIF1	ORPHA:93924
HP:0000750	Delayed speech and language development	7050	TGIF1	ORPHA:93925
HP:0000750	Delayed speech and language development	7050	TGIF1	ORPHA:220386
HP:0000750	Delayed speech and language development	4838	NODAL	ORPHA:93926
HP:0000750	Delayed speech and language development	4838	NODAL	ORPHA:93924
HP:0000750	Delayed speech and language development	4838	NODAL	ORPHA:93925
HP:0000750	Delayed speech and language development	4838	NODAL	ORPHA:220386
HP:0000750	Delayed speech and language development	6469	SHH	ORPHA:93926
HP:0000750	Delayed speech and language development	6469	SHH	ORPHA:93924
HP:0000750	Delayed speech and language development	6469	SHH	ORPHA:93925
HP:0000750	Delayed speech and language development	6469	SHH	ORPHA:220386
HP:0000750	Delayed speech and language development	7546	ZIC2	ORPHA:93926
HP:0000750	Delayed speech and language development	7546	ZIC2	ORPHA:93924
HP:0000750	Delayed speech and language development	7546	ZIC2	ORPHA:93925
HP:0000750	Delayed speech and language development	7546	ZIC2	ORPHA:220386
HP:0000750	Delayed speech and language development	6491	STIL	ORPHA:93926
HP:0000750	Delayed speech and language development	6491	STIL	ORPHA:93924
HP:0000750	Delayed speech and language development	6491	STIL	ORPHA:93925
HP:0000750	Delayed speech and language development	6491	STIL	OMIM:612703
HP:0000750	Delayed speech and language development	6491	STIL	ORPHA:220386
HP:0000750	Delayed speech and language development	2619	GAS1	ORPHA:93926
HP:0000750	Delayed speech and language development	2619	GAS1	ORPHA:93924
HP:0000750	Delayed speech and language development	2619	GAS1	ORPHA:93925
HP:0000750	Delayed speech and language development	2619	GAS1	ORPHA:220386
HP:0000750	Delayed speech and language development	84976	DISP1	ORPHA:93926
HP:0000750	Delayed speech and language development	84976	DISP1	ORPHA:93924
HP:0000750	Delayed speech and language development	84976	DISP1	ORPHA:93925
HP:0000750	Delayed speech and language development	84976	DISP1	ORPHA:220386
HP:0000750	Delayed speech and language development	2736	GLI2	ORPHA:93926
HP:0000750	Delayed speech and language development	2736	GLI2	ORPHA:93924
HP:0000750	Delayed speech and language development	2736	GLI2	ORPHA:93925
HP:0000750	Delayed speech and language development	2736	GLI2	ORPHA:220386
HP:0000750	Delayed speech and language development	8928	FOXH1	ORPHA:93926
HP:0000750	Delayed speech and language development	8928	FOXH1	ORPHA:93924
HP:0000750	Delayed speech and language development	8928	FOXH1	ORPHA:93925
HP:0000750	Delayed speech and language development	8928	FOXH1	ORPHA:220386
HP:0000750	Delayed speech and language development	6997	CRIPTO	ORPHA:93926
HP:0000750	Delayed speech and language development	6997	CRIPTO	ORPHA:93924
HP:0000750	Delayed speech and language development	6997	CRIPTO	ORPHA:93925
HP:0000750	Delayed speech and language development	6997	CRIPTO	ORPHA:220386
HP:0000750	Delayed speech and language development	5727	PTCH1	ORPHA:93926
HP:0000750	Delayed speech and language development	5727	PTCH1	ORPHA:93924
HP:0000750	Delayed speech and language development	5727	PTCH1	ORPHA:93925
HP:0000750	Delayed speech and language development	5727	PTCH1	ORPHA:220386
HP:0000750	Delayed speech and language development	50937	CDON	ORPHA:93926
HP:0000750	Delayed speech and language development	50937	CDON	ORPHA:93924
HP:0000750	Delayed speech and language development	50937	CDON	ORPHA:93925
HP:0000750	Delayed speech and language development	50937	CDON	ORPHA:220386
HP:0000750	Delayed speech and language development	23007	PLCH1	ORPHA:93925
HP:0000750	Delayed speech and language development	6905	TBCE	OMIM:617207
HP:0000750	Delayed speech and language development	55361	PI4K2A	OMIM:620732
HP:0000750	Delayed speech and language development	5518	PPP2R1A	OMIM:616362
HP:0000750	Delayed speech and language development	5518	PPP2R1A	ORPHA:457284
HP:0000750	Delayed speech and language development	84879	MFSD2A	OMIM:616486
HP:0000750	Delayed speech and language development	27089	UQCRQ	OMIM:615159
HP:0000750	Delayed speech and language development	57282	SLC4A10	OMIM:620746
HP:0000750	Delayed speech and language development	4191	MDH2	OMIM:617339
HP:0000750	Delayed speech and language development	54828	BCAS3	OMIM:619641
HP:0000750	Delayed speech and language development	3800	KIF5C	OMIM:615282
HP:0000750	Delayed speech and language development	122961	ISCA2	OMIM:616370
HP:0000750	Delayed speech and language development	253959	RALGAPA1	OMIM:618797
HP:0000750	Delayed speech and language development	2904	GRIN2B	OMIM:616139
HP:0000750	Delayed speech and language development	9562	MINPP1	OMIM:619527
HP:0000750	Delayed speech and language development	6925	TCF4	OMIM:610954
HP:0000750	Delayed speech and language development	6925	TCF4	ORPHA:2896
HP:0000750	Delayed speech and language development	2258	FGF13	OMIM:301095
HP:0000750	Delayed speech and language development	57192	MCOLN1	ORPHA:578
HP:0000750	Delayed speech and language development	57192	MCOLN1	OMIM:252650
HP:0000750	Delayed speech and language development	10667	FARS2	ORPHA:466722
HP:0000750	Delayed speech and language development	23556	PIGN	OMIM:614080
HP:0000750	Delayed speech and language development	9922	IQSEC1	OMIM:618687
HP:0000750	Delayed speech and language development	284098	PIGW	OMIM:616025
HP:0000750	Delayed speech and language development	388662	SLC6A17	OMIM:616269
HP:0000750	Delayed speech and language development	7994	KAT6A	OMIM:616268
HP:0000750	Delayed speech and language development	51227	PIGP	OMIM:617599
HP:0000750	Delayed speech and language development	23499	MACF1	OMIM:618325
HP:0000750	Delayed speech and language development	51645	PPIL1	OMIM:619301
HP:0000750	Delayed speech and language development	58497	PRUNE1	OMIM:617481
HP:0000750	Delayed speech and language development	58497	PRUNE1	ORPHA:544469
HP:0000750	Delayed speech and language development	26173	INTS1	OMIM:618571
HP:0000750	Delayed speech and language development	55656	INTS8	OMIM:618572
HP:0000750	Delayed speech and language development	3658	IREB2	OMIM:618451
HP:0000750	Delayed speech and language development	51693	TRAPPC2L	OMIM:618331
HP:0000750	Delayed speech and language development	6857	SYT1	OMIM:618218
HP:0000750	Delayed speech and language development	6857	SYT1	ORPHA:522077
HP:0000750	Delayed speech and language development	81603	TRIM8	OMIM:619428
HP:0000750	Delayed speech and language development	5277	PIGA	OMIM:301072
HP:0000750	Delayed speech and language development	5277	PIGA	OMIM:300868
HP:0000750	Delayed speech and language development	11160	ERLIN2	ORPHA:280384
HP:0000750	Delayed speech and language development	11160	ERLIN2	ORPHA:209951
HP:0000750	Delayed speech and language development	11160	ERLIN2	OMIM:611225
HP:0000750	Delayed speech and language development	10059	DNM1L	ORPHA:330050
HP:0000750	Delayed speech and language development	8925	HERC1	OMIM:617011
HP:0000750	Delayed speech and language development	8925	HERC1	ORPHA:457359
HP:0000750	Delayed speech and language development	84894	LINGO1	OMIM:618103
HP:0000750	Delayed speech and language development	56896	DPYSL5	OMIM:619435
HP:0000750	Delayed speech and language development	54892	NCAPG2	OMIM:618460
HP:0000750	Delayed speech and language development	23516	SLC39A14	OMIM:617013
HP:0000750	Delayed speech and language development	8573	CASK	OMIM:300749
HP:0000750	Delayed speech and language development	8573	CASK	ORPHA:163937
HP:0000750	Delayed speech and language development	92335	STRADA	ORPHA:500533
HP:0000750	Delayed speech and language development	92335	STRADA	OMIM:611087
HP:0000750	Delayed speech and language development	8818	DPM2	ORPHA:329178
HP:0000750	Delayed speech and language development	9526	MPDU1	OMIM:609180
HP:0000750	Delayed speech and language development	10733	PLK4	OMIM:616171
HP:0000750	Delayed speech and language development	11277	TREX1	OMIM:225750
HP:0000750	Delayed speech and language development	6647	SOD1	OMIM:618598
HP:0000750	Delayed speech and language development	57520	HECW2	OMIM:617268
HP:0000750	Delayed speech and language development	4081	MAB21L1	OMIM:618479
HP:0000750	Delayed speech and language development	25885	POLR1A	OMIM:620675
HP:0000750	Delayed speech and language development	154881	KCTD7	OMIM:611726
HP:0000750	Delayed speech and language development	29954	POMT2	OMIM:236670
HP:0000750	Delayed speech and language development	79147	FKRP	OMIM:236670
HP:0000750	Delayed speech and language development	9215	LARGE1	OMIM:236670
HP:0000750	Delayed speech and language development	8869	ST3GAL5	OMIM:609056
HP:0000750	Delayed speech and language development	4948	OCA2	ORPHA:98794
HP:0000750	Delayed speech and language development	56915	EXOSC5	OMIM:619576
HP:0000750	Delayed speech and language development	23221	RHOBTB2	OMIM:618004
HP:0000750	Delayed speech and language development	112939	NACC1	OMIM:617393
HP:0000750	Delayed speech and language development	55572	FOXRED1	OMIM:618241
HP:0000750	Delayed speech and language development	7965	AIMP2	OMIM:618006
HP:0000750	Delayed speech and language development	3376	IARS1	ORPHA:541423
HP:0000750	Delayed speech and language development	3376	IARS1	OMIM:617093
HP:0000750	Delayed speech and language development	29920	PYCR2	ORPHA:481152
HP:0000750	Delayed speech and language development	29920	PYCR2	OMIM:616420
HP:0000750	Delayed speech and language development	51608	GET4	OMIM:620200
HP:0000750	Delayed speech and language development	8604	SLC25A12	OMIM:612949
HP:0000750	Delayed speech and language development	6821	SUOX	OMIM:272300
HP:0000750	Delayed speech and language development	7703	PCGF2	OMIM:618371
HP:0000750	Delayed speech and language development	23258	DENND5A	OMIM:617281
HP:0000750	Delayed speech and language development	5631	PRPS1	OMIM:301835
HP:0000750	Delayed speech and language development	389856	USP27X	OMIM:300984
HP:0000750	Delayed speech and language development	1822	ATN1	OMIM:618494
HP:0000750	Delayed speech and language development	3188	HNRNPH2	OMIM:300986
HP:0000750	Delayed speech and language development	5281	PIGF	OMIM:619356
HP:0000750	Delayed speech and language development	57003	CCDC47	OMIM:618268
HP:0000750	Delayed speech and language development	94005	PIGS	OMIM:618143
HP:0000750	Delayed speech and language development	10682	EBP	OMIM:300960
HP:0000750	Delayed speech and language development	22983	MAST1	OMIM:618273
HP:0000750	Delayed speech and language development	23287	AGTPBP1	OMIM:618276
HP:0000750	Delayed speech and language development	79143	MBOAT7	OMIM:617188
HP:0000750	Delayed speech and language development	57038	RARS2	OMIM:611523
HP:0000750	Delayed speech and language development	498	ATP5F1A	OMIM:620358
HP:0000750	Delayed speech and language development	8911	CACNA1I	OMIM:620114
HP:0000750	Delayed speech and language development	10479	SLC9A6	ORPHA:85278
HP:0000750	Delayed speech and language development	10479	SLC9A6	OMIM:300243
HP:0000750	Delayed speech and language development	777	CACNA1E	OMIM:618285
HP:0000750	Delayed speech and language development	55835	CPAP	OMIM:608393
HP:0000750	Delayed speech and language development	55005	RMND1	OMIM:614922
HP:0000750	Delayed speech and language development	25913	POT1	OMIM:620368
HP:0000750	Delayed speech and language development	84081	NSRP1	OMIM:620001
HP:0000750	Delayed speech and language development	124454	EARS2	OMIM:614924
HP:0000750	Delayed speech and language development	1795	DOCK3	OMIM:618292
HP:0000750	Delayed speech and language development	60684	TRAPPC11	ORPHA:369840
HP:0000750	Delayed speech and language development	3735	KARS1	OMIM:619147
HP:0000750	Delayed speech and language development	3735	KARS1	ORPHA:3240
HP:0000750	Delayed speech and language development	27072	VPS41	OMIM:619389
HP:0000750	Delayed speech and language development	56947	MFF	OMIM:617086
HP:0000750	Delayed speech and language development	1496	CTNNA2	OMIM:618174
HP:0000750	Delayed speech and language development	87178	PNPT1	OMIM:614932
HP:0000750	Delayed speech and language development	87178	PNPT1	ORPHA:319514
HP:0000750	Delayed speech and language development	199857	ALG14	OMIM:619031
HP:0000750	Delayed speech and language development	1183	CLCN4	OMIM:300114
HP:0000750	Delayed speech and language development	347734	SLC35B2	OMIM:620269
HP:0000750	Delayed speech and language development	55325	UFSP2	OMIM:620028
HP:0000750	Delayed speech and language development	1119	CHKA	OMIM:620023
HP:0000750	Delayed speech and language development	8496	PPFIBP1	OMIM:620024
HP:0000750	Delayed speech and language development	4983	OPHN1	OMIM:300486
HP:0000750	Delayed speech and language development	6531	SLC6A3	ORPHA:238455
HP:0000750	Delayed speech and language development	89910	UBE3B	OMIM:244450
HP:0000750	Delayed speech and language development	51506	UFC1	OMIM:618076
HP:0000750	Delayed speech and language development	5689	PSMB1	OMIM:620038
HP:0000750	Delayed speech and language development	57582	KCNT1	OMIM:614959
HP:0000750	Delayed speech and language development	271	AMPD2	OMIM:615809
HP:0000750	Delayed speech and language development	56992	KIF15	ORPHA:261323
HP:0000750	Delayed speech and language development	64207	IRF2BPL	OMIM:618088
HP:0000750	Delayed speech and language development	5119	CHMP1A	OMIM:614961
HP:0000750	Delayed speech and language development	55157	DARS2	ORPHA:137898
HP:0000750	Delayed speech and language development	114034	TOE1	OMIM:614969
HP:0000750	Delayed speech and language development	894	CCND2	OMIM:615938
HP:0000750	Delayed speech and language development	6597	SMARCA4	OMIM:614609
HP:0000750	Delayed speech and language development	6597	SMARCA4	ORPHA:1465
HP:0000750	Delayed speech and language development	23116	TOGARAM1	OMIM:619185
HP:0000750	Delayed speech and language development	79583	TMEM231	OMIM:614970
HP:0000750	Delayed speech and language development	10352	WARS2	ORPHA:572798
HP:0000750	Delayed speech and language development	10352	WARS2	OMIM:617710
HP:0000750	Delayed speech and language development	26005	C2CD3	OMIM:615948
HP:0000750	Delayed speech and language development	84947	SERAC1	OMIM:614739
HP:0000750	Delayed speech and language development	7025	NR2F1	ORPHA:401777
HP:0000750	Delayed speech and language development	9255	AIMP1	OMIM:260600
HP:0000750	Delayed speech and language development	54499	TMCO1	OMIM:213980
HP:0000750	Delayed speech and language development	93210	PGAP3	OMIM:615716
HP:0000750	Delayed speech and language development	83475	DOHH	OMIM:620066
HP:0000750	Delayed speech and language development	51611	DPH5	OMIM:620070
HP:0000750	Delayed speech and language development	5700	PSMC1	OMIM:620071
HP:0000750	Delayed speech and language development	440138	ALG11	OMIM:613661
HP:0000750	Delayed speech and language development	64135	IFIH1	OMIM:615846
HP:0000750	Delayed speech and language development	6605	SMARCE1	OMIM:616938
HP:0000750	Delayed speech and language development	6605	SMARCE1	ORPHA:1465
HP:0000750	Delayed speech and language development	55691	FRMD4A	OMIM:616819
HP:0000750	Delayed speech and language development	55691	FRMD4A	ORPHA:466688
HP:0000750	Delayed speech and language development	3187	HNRNPH1	OMIM:620083
HP:0000750	Delayed speech and language development	7355	SLC35A2	OMIM:300896
HP:0000750	Delayed speech and language development	50628	GEMIN4	OMIM:617913
HP:0000750	Delayed speech and language development	85440	DOCK7	OMIM:615859
HP:0000750	Delayed speech and language development	7407	VARS1	OMIM:617802
HP:0000750	Delayed speech and language development	9894	TELO2	OMIM:616954
HP:0000750	Delayed speech and language development	9894	TELO2	ORPHA:488642
HP:0000750	Delayed speech and language development	9230	RAB11B	OMIM:617807
HP:0000750	Delayed speech and language development	51807	TUBA8	ORPHA:250972
HP:0000750	Delayed speech and language development	22845	DOLK	ORPHA:91131
HP:0000750	Delayed speech and language development	79587	CARS2	ORPHA:477774
HP:0000750	Delayed speech and language development	84162	BLTP1	OMIM:617822
HP:0000750	Delayed speech and language development	2902	GRIN1	OMIM:617820
HP:0000750	Delayed speech and language development	2902	GRIN1	OMIM:614254
HP:0000750	Delayed speech and language development	7280	TUBB2A	OMIM:615763
HP:0000750	Delayed speech and language development	998	CDC42	OMIM:616737
HP:0000750	Delayed speech and language development	998	CDC42	ORPHA:487796
HP:0000750	Delayed speech and language development	51010	EXOSC3	OMIM:614678
HP:0000750	Delayed speech and language development	23732	FRRS1L	OMIM:616981
HP:0000750	Delayed speech and language development	9512	PMPCB	OMIM:617954
HP:0000750	Delayed speech and language development	6598	SMARCB1	ORPHA:1465
HP:0000750	Delayed speech and language development	6664	SOX11	ORPHA:1465
HP:0000750	Delayed speech and language development	51185	CRBN	OMIM:607417
HP:0000750	Delayed speech and language development	84342	COG8	OMIM:611182
HP:0000750	Delayed speech and language development	55969	RAB5IF	OMIM:616994
HP:0000750	Delayed speech and language development	51501	HIKESHI	OMIM:616881
HP:0000750	Delayed speech and language development	55180	LINS1	OMIM:614340
HP:0000750	Delayed speech and language development	22931	RAB18	OMIM:614222
HP:0000750	Delayed speech and language development	56270	WDR45B	OMIM:617977
HP:0000750	Delayed speech and language development	6182	MRPL12	OMIM:618951
HP:0000750	Delayed speech and language development	200894	ARL13B	OMIM:612291
HP:0000750	Delayed speech and language development	122553	TRAPPC6B	OMIM:617862
HP:0000750	Delayed speech and language development	9918	NCAPD2	OMIM:617983
HP:0000750	Delayed speech and language development	57688	ZSWIM6	OMIM:617865
HP:0000750	Delayed speech and language development	2893	GRIA4	OMIM:617864
HP:0000750	Delayed speech and language development	79867	TCTN2	OMIM:616654
HP:0000750	Delayed speech and language development	55704	CCDC88A	OMIM:617507
HP:0000750	Delayed speech and language development	55164	SHQ1	OMIM:619922
HP:0000750	Delayed speech and language development	3756	KCNH1	ORPHA:420561
HP:0000750	Delayed speech and language development	51	ACOX1	OMIM:618960
HP:0000750	Delayed speech and language development	5879	RAC1	OMIM:617751
HP:0000750	Delayed speech and language development	5879	RAC1	ORPHA:500159
HP:0000750	Delayed speech and language development	9197	SLC33A1	OMIM:614482
HP:0000750	Delayed speech and language development	57731	SPTBN4	OMIM:617519
HP:0000750	Delayed speech and language development	57194	ATP10A	ORPHA:411515
HP:0000750	Delayed speech and language development	9990	SLC12A6	OMIM:218000
HP:0000750	Delayed speech and language development	79158	GNPTAB	ORPHA:576
HP:0000750	Delayed speech and language development	8565	YARS1	OMIM:619418
HP:0000750	Delayed speech and language development	6389	SDHA	ORPHA:3208
HP:0000750	Delayed speech and language development	6392	SDHD	ORPHA:3208
HP:0000750	Delayed speech and language development	644096	SDHAF1	ORPHA:3208
HP:0000750	Delayed speech and language development	201163	FLCN	OMIM:610883
HP:0000750	Delayed speech and language development	6329	SCN4A	OMIM:620369
HP:0000750	Delayed speech and language development	6329	SCN4A	OMIM:620351
HP:0000750	Delayed speech and language development	10020	GNE	ORPHA:3166
HP:0000750	Delayed speech and language development	7138	TNNT1	OMIM:620389
HP:0000750	Delayed speech and language development	22827	PUF60	ORPHA:508488
HP:0000750	Delayed speech and language development	6472	SHMT2	OMIM:619121
HP:0000750	Delayed speech and language development	5910	RAP1GDS1	OMIM:620655
HP:0000750	Delayed speech and language development	55186	SLC25A36	OMIM:620211
HP:0000750	Delayed speech and language development	171023	ASXL1	ORPHA:97297
HP:0000750	Delayed speech and language development	7314	UBB	ORPHA:99772
HP:0000750	Delayed speech and language development	57822	GRHL3	ORPHA:99772
HP:0000750	Delayed speech and language development	7840	ALMS1	ORPHA:64
HP:6001102	Inability to puff cheeks	2483	FRG1	OMIM:158900
HP:0020079	Beta-alaninuria	4329	ALDH6A1	OMIM:614105
HP:0020078	Alaninuria	7381	UQCRB	OMIM:615158
HP:0020078	Alaninuria	51601	LIPT1	OMIM:616299
HP:0020071	Viremia	3604	TNFRSF9	OMIM:620282
HP:0020071	Viremia	84061	MAGT1	OMIM:300853
HP:0020071	Viremia	10043	TOM1	OMIM:619510
HP:0020071	Viremia	54790	TET2	OMIM:619126
HP:0020071	Viremia	939	CD27	OMIM:615122
HP:0020071	Viremia	28755	TRAC	OMIM:615387
HP:0020071	Viremia	3702	ITK	OMIM:613011
HP:0020071	Viremia	50619	DEF6	OMIM:619573
HP:0020071	Viremia	27040	LAT	OMIM:617514
HP:0020071	Viremia	5295	PIK3R1	OMIM:616005
HP:0020071	Viremia	940	CD28	OMIM:620901
HP:0020071	Viremia	5580	PRKCD	OMIM:615559
HP:0020071	Viremia	22806	IKZF3	OMIM:619437
HP:0020071	Viremia	5238	PGM3	OMIM:615816
HP:0020071	Viremia	6789	STK4	OMIM:614868
HP:0020071	Viremia	5966	REL	OMIM:619652
HP:0020071	Viremia	7174	TPP2	OMIM:619220
HP:0020071	Viremia	3560	IL2RB	OMIM:618495
HP:0020071	Viremia	1503	CTPS1	OMIM:615897
HP:0020073	Hypopigmented macule	4221	MEN1	ORPHA:652
HP:0020073	Hypopigmented macule	4221	MEN1	OMIM:131100
HP:0020073	Hypopigmented macule	1027	CDKN1B	ORPHA:652
HP:0020073	Hypopigmented macule	1027	CDKN1B	ORPHA:276152
HP:0020073	Hypopigmented macule	1026	CDKN1A	ORPHA:652
HP:0020073	Hypopigmented macule	1030	CDKN2B	ORPHA:652
HP:0020073	Hypopigmented macule	1031	CDKN2C	ORPHA:652
HP:0020073	Hypopigmented macule	4841	NONO	ORPHA:466791
HP:0020073	Hypopigmented macule	3458	IFNG	ORPHA:805
HP:0020073	Hypopigmented macule	7248	TSC1	ORPHA:805
HP:0020073	Hypopigmented macule	7249	TSC2	ORPHA:805
HP:0020073	Hypopigmented macule	3861	KRT14	ORPHA:79397
HP:0020073	Hypopigmented macule	3861	KRT14	ORPHA:79399
HP:0020073	Hypopigmented macule	134218	DNAJC21	OMIM:617052
HP:0020073	Hypopigmented macule	23328	SASH1	OMIM:618373
HP:0020073	Hypopigmented macule	5167	ENPP1	OMIM:615522
HP:0020073	Hypopigmented macule	10058	ABCB6	OMIM:615402
HP:0020073	Hypopigmented macule	10457	GPNMB	OMIM:617920
HP:0020073	Hypopigmented macule	23384	SPECC1L	OMIM:145420
HP:0020073	Hypopigmented macule	4763	NF1	OMIM:162200
HP:0020073	Hypopigmented macule	2050	EPHB4	ORPHA:137667
HP:0020073	Hypopigmented macule	5921	RASA1	ORPHA:137667
HP:0020073	Hypopigmented macule	23141	ANKLE2	OMIM:616681
HP:0020073	Hypopigmented macule	2176	FANCC	OMIM:227645
HP:0020073	Hypopigmented macule	56983	POGLUT1	ORPHA:79145
HP:0020073	Hypopigmented macule	3852	KRT5	ORPHA:79145
HP:0020073	Hypopigmented macule	23509	POFUT1	ORPHA:79145
HP:0020073	Hypopigmented macule	55851	PSENEN	ORPHA:79145
HP:0020073	Hypopigmented macule	5339	PLEC	ORPHA:79401
HP:0020072	Persistent EBV viremia	3604	TNFRSF9	OMIM:620282
HP:0020072	Persistent EBV viremia	84061	MAGT1	OMIM:300853
HP:0020072	Persistent EBV viremia	10043	TOM1	OMIM:619510
HP:0020072	Persistent EBV viremia	54790	TET2	OMIM:619126
HP:0020072	Persistent EBV viremia	939	CD27	OMIM:615122
HP:0020072	Persistent EBV viremia	28755	TRAC	OMIM:615387
HP:0020072	Persistent EBV viremia	3702	ITK	OMIM:613011
HP:0020072	Persistent EBV viremia	50619	DEF6	OMIM:619573
HP:0020072	Persistent EBV viremia	27040	LAT	OMIM:617514
HP:0020072	Persistent EBV viremia	5295	PIK3R1	OMIM:616005
HP:0020072	Persistent EBV viremia	940	CD28	OMIM:620901
HP:0020072	Persistent EBV viremia	5580	PRKCD	OMIM:615559
HP:0020072	Persistent EBV viremia	22806	IKZF3	OMIM:619437
HP:0020072	Persistent EBV viremia	5238	PGM3	OMIM:615816
HP:0020072	Persistent EBV viremia	6789	STK4	OMIM:614868
HP:0020074	Crystalluria	7372	UMPS	OMIM:258900
HP:0020074	Crystalluria	7372	UMPS	ORPHA:30
HP:0020074	Crystalluria	5631	PRPS1	ORPHA:411543
HP:0020074	Crystalluria	5631	PRPS1	ORPHA:411536
HP:0020074	Crystalluria	353	APRT	OMIM:614723
HP:6001113	Elevated circulating methysterol concentration	6307	MSMO1	OMIM:616834
HP:0020082	Heinz bodies	8573	CASK	OMIM:300908
HP:0020082	Heinz bodies	2539	G6PD	OMIM:300908
HP:0020082	Heinz bodies	3040	HBA2	OMIM:140700
HP:0020082	Heinz bodies	3039	HBA1	OMIM:140700
HP:0020082	Heinz bodies	3043	HBB	OMIM:140700
HP:0020082	Heinz bodies	2876	GPX1	OMIM:614164
HP:0020081	Pappenheimer bodies	22	ABCB7	OMIM:301310
HP:0020081	Pappenheimer bodies	22	ABCB7	ORPHA:2802
HP:0020081	Pappenheimer bodies	80324	PUS1	OMIM:600462
HP:0020083	Furuncle	10625	IVNS1ABP	OMIM:618969
HP:0020086	BCGitis	139818	DOCK11	OMIM:301109
HP:0020086	BCGitis	28985	MCTS1	OMIM:301115
HP:0020086	BCGitis	6772	STAT1	OMIM:614892
HP:0020086	BCGitis	5993	RFX5	OMIM:620816
HP:0020086	BCGitis	3593	IL12B	OMIM:614890
HP:0020086	BCGitis	3394	IRF8	OMIM:226990
HP:0020086	BCGitis	3394	IRF8	OMIM:614893
HP:0020086	BCGitis	84876	ORAI1	OMIM:612782
HP:0020086	BCGitis	9020	MAP3K14	OMIM:620449
HP:0020086	BCGitis	9636	ISG15	OMIM:616126
HP:0020086	BCGitis	3458	IFNG	OMIM:618963
HP:0020086	BCGitis	3659	IRF1	OMIM:620668
HP:0020086	BCGitis	84888	SPPL2A	OMIM:619549
HP:0020086	BCGitis	2214	FCGR3A	OMIM:615707
HP:0020086	BCGitis	64421	DCLRE1C	OMIM:602450
HP:0020085	Infection following live vaccination	139818	DOCK11	OMIM:301109
HP:0020085	Infection following live vaccination	28985	MCTS1	OMIM:301115
HP:0020085	Infection following live vaccination	6772	STAT1	OMIM:614892
HP:0020085	Infection following live vaccination	5993	RFX5	OMIM:620816
HP:0020085	Infection following live vaccination	3593	IL12B	OMIM:614890
HP:0020085	Infection following live vaccination	3394	IRF8	OMIM:226990
HP:0020085	Infection following live vaccination	3394	IRF8	OMIM:614893
HP:0020085	Infection following live vaccination	84876	ORAI1	OMIM:612782
HP:0020085	Infection following live vaccination	9020	MAP3K14	OMIM:620449
HP:0020085	Infection following live vaccination	9636	ISG15	OMIM:616126
HP:0020085	Infection following live vaccination	3458	IFNG	OMIM:618963
HP:0020085	Infection following live vaccination	3659	IRF1	OMIM:620668
HP:0020085	Infection following live vaccination	84888	SPPL2A	OMIM:619549
HP:0020085	Infection following live vaccination	2214	FCGR3A	OMIM:615707
HP:0020085	Infection following live vaccination	64421	DCLRE1C	OMIM:602450
HP:0020085	Infection following live vaccination	6097	RORC	OMIM:616622
HP:0020085	Infection following live vaccination	1536	CYBB	OMIM:300645
HP:0020085	Infection following live vaccination	30009	TBX21	OMIM:619630
HP:0020085	Infection following live vaccination	5966	REL	OMIM:619652
HP:0020085	Infection following live vaccination	3594	IL12RB1	ORPHA:319552
HP:0020085	Infection following live vaccination	57169	ZNFX1	OMIM:619644
HP:0020085	Infection following live vaccination	3454	IFNAR1	OMIM:619935
HP:0020085	Infection following live vaccination	6773	STAT2	OMIM:616636
HP:0020085	Infection following live vaccination	3455	IFNAR2	OMIM:616669
HP:0020085	Infection following live vaccination	6929	TCF3	OMIM:616941
HP:0020085	Infection following live vaccination	11151	CORO1A	OMIM:615401
HP:0020088	Post-vaccination measles	3454	IFNAR1	OMIM:619935
HP:0020088	Post-vaccination measles	6773	STAT2	OMIM:616636
HP:0020088	Post-vaccination measles	3455	IFNAR2	OMIM:616669
HP:0020087	BCGosis	6097	RORC	OMIM:616622
HP:0020087	BCGosis	9020	MAP3K14	OMIM:620449
HP:0020087	BCGosis	3458	IFNG	OMIM:618963
HP:0020087	BCGosis	3659	IRF1	OMIM:620668
HP:0020087	BCGosis	1536	CYBB	OMIM:300645
HP:0020087	BCGosis	30009	TBX21	OMIM:619630
HP:0020087	BCGosis	5966	REL	OMIM:619652
HP:0020087	BCGosis	3594	IL12RB1	ORPHA:319552
HP:0020087	BCGosis	57169	ZNFX1	OMIM:619644
HP:0020087	BCGosis	28985	MCTS1	OMIM:301115
HP:0020087	BCGosis	5993	RFX5	OMIM:620816
HP:0020080	Erythrocyte inclusion bodies	3043	HBB	OMIM:603902
HP:0020080	Erythrocyte inclusion bodies	22	ABCB7	OMIM:301310
HP:0020080	Erythrocyte inclusion bodies	22	ABCB7	ORPHA:2802
HP:0020080	Erythrocyte inclusion bodies	80324	PUS1	OMIM:600462
HP:0020080	Erythrocyte inclusion bodies	8573	CASK	OMIM:300908
HP:0020080	Erythrocyte inclusion bodies	2539	G6PD	OMIM:300908
HP:0020080	Erythrocyte inclusion bodies	3040	HBA2	OMIM:140700
HP:0020080	Erythrocyte inclusion bodies	3039	HBA1	OMIM:140700
HP:0020080	Erythrocyte inclusion bodies	2876	GPX1	OMIM:614164
HP:0020080	Erythrocyte inclusion bodies	8772	FADD	OMIM:613759
HP:0020080	Erythrocyte inclusion bodies	3921	RPSA	OMIM:271400
HP:0020080	Erythrocyte inclusion bodies	6786	STIM1	OMIM:185070
HP:6001124	Sphenoid wing dysplasia	4763	NF1	OMIM:162200
HP:0020096	Recurrent streptococcal infections	8456	FOXN1	ORPHA:83471
HP:0020096	Recurrent streptococcal infections	3426	CFI	OMIM:610984
HP:0020096	Recurrent streptococcal infections	1130	LYST	ORPHA:167
HP:0020096	Recurrent streptococcal infections	51135	IRAK4	OMIM:607676
HP:0020096	Recurrent streptococcal infections	3514	IGKC	ORPHA:183675
HP:0020096	Recurrent streptococcal infections	3501	IGHG2	ORPHA:183675
HP:0012302	Herpes simplex encephalitis	3071	NCKAP1L	OMIM:618982
HP:0012302	Herpes simplex encephalitis	6772	STAT1	OMIM:614892
HP:0012302	Herpes simplex encephalitis	6772	STAT1	OMIM:613796
HP:0012302	Herpes simplex encephalitis	677814	SNORA31	OMIM:619396
HP:0012302	Herpes simplex encephalitis	7098	TLR3	OMIM:613002
HP:0012302	Herpes simplex encephalitis	10525	HYOU1	OMIM:233600
HP:0012302	Herpes simplex encephalitis	3661	IRF3	OMIM:616532
HP:0012302	Herpes simplex encephalitis	148022	TICAM1	OMIM:614850
HP:0012302	Herpes simplex encephalitis	81622	UNC93B1	OMIM:610551
HP:0012302	Herpes simplex encephalitis	29110	TBK1	OMIM:617900
HP:0012302	Herpes simplex encephalitis	29110	TBK1	OMIM:620880
HP:0012302	Herpes simplex encephalitis	7187	TRAF3	OMIM:614849
HP:0020090	Post-vaccination polio	6929	TCF3	OMIM:616941
HP:0001507	Growth abnormality	9276	COPB2	OMIM:617800
HP:0001507	Growth abnormality	91147	TMEM67	ORPHA:140976
HP:0001507	Growth abnormality	2260	FGFR1	ORPHA:432
HP:0001507	Growth abnormality	81848	SPRY4	ORPHA:432
HP:0001507	Growth abnormality	128674	PROKR2	ORPHA:432
HP:0001507	Growth abnormality	2253	FGF8	ORPHA:432
HP:0001507	Growth abnormality	60675	PROK2	ORPHA:432
HP:0001507	Growth abnormality	55636	CHD7	ORPHA:432
HP:0001507	Growth abnormality	6870	TACR3	ORPHA:432
HP:0001507	Growth abnormality	1848	DUSP6	ORPHA:432
HP:0001507	Growth abnormality	26012	NSMF	ORPHA:432
HP:0001507	Growth abnormality	55717	WDR11	ORPHA:432
HP:0001507	Growth abnormality	4808	NHLH2	ORPHA:432
HP:0001507	Growth abnormality	9394	HS6ST1	ORPHA:432
HP:0001507	Growth abnormality	2796	GNRH1	ORPHA:432
HP:0001507	Growth abnormality	2798	GNRHR	ORPHA:432
HP:0001507	Growth abnormality	84634	KISS1R	ORPHA:432
HP:0001507	Growth abnormality	6866	TAC3	ORPHA:432
HP:0001507	Growth abnormality	8822	FGF17	ORPHA:432
HP:0001507	Growth abnormality	3814	KISS1	ORPHA:432
HP:0001507	Growth abnormality	9241	NOG	OMIM:186570
HP:0001507	Growth abnormality	6535	SLC6A8	OMIM:300352
HP:0001507	Growth abnormality	8925	HERC1	OMIM:617011
HP:0001507	Growth abnormality	5351	PLOD1	OMIM:225400
HP:0001507	Growth abnormality	79912	PYROXD1	OMIM:617258
HP:0001507	Growth abnormality	84282	RNF135	ORPHA:137634
HP:0001507	Growth abnormality	1788	DNMT3A	OMIM:615879
HP:0001507	Growth abnormality	85358	SHANK3	OMIM:606232
HP:0001507	Growth abnormality	2202	EFEMP1	OMIM:620780
HP:0001507	Growth abnormality	10297	APC2	ORPHA:821
HP:0001507	Growth abnormality	2200	FBN1	OMIM:129600
HP:0001507	Growth abnormality	2200	FBN1	OMIM:154700
HP:0001507	Growth abnormality	2200	FBN1	OMIM:616914
HP:0001507	Growth abnormality	2200	FBN1	ORPHA:91387
HP:0001507	Growth abnormality	2099	ESR1	ORPHA:785
HP:0001507	Growth abnormality	473	RERE	OMIM:616975
HP:0001507	Growth abnormality	2261	FGFR3	OMIM:610474
HP:0001507	Growth abnormality	23524	SRRM2	OMIM:620439
HP:0001507	Growth abnormality	4882	NPR2	OMIM:615923
HP:0001507	Growth abnormality	22954	TRIM32	ORPHA:1878
HP:0001507	Growth abnormality	80204	FBXO11	OMIM:618089
HP:0001507	Growth abnormality	4160	MC4R	OMIM:618406
HP:0001507	Growth abnormality	55109	AGGF1	ORPHA:90308
HP:0001507	Growth abnormality	3973	LHCGR	ORPHA:3000
HP:0001507	Growth abnormality	2248	FGF3	ORPHA:90024
HP:0001507	Growth abnormality	10555	AGPAT2	OMIM:608594
HP:0001507	Growth abnormality	8726	EED	OMIM:617561
HP:0001507	Growth abnormality	5159	PDGFRB	OMIM:616592
HP:0001507	Growth abnormality	51715	RAB23	ORPHA:65759
HP:0001507	Growth abnormality	1954	MEGF8	ORPHA:65759
HP:0001507	Growth abnormality	6874	TAF4	OMIM:620450
HP:0001507	Growth abnormality	595	CCND1	ORPHA:29073
HP:0001507	Growth abnormality	4158	MC2R	OMIM:202200
HP:0001507	Growth abnormality	4158	MC2R	ORPHA:361
HP:0001507	Growth abnormality	65109	UPF3B	OMIM:300676
HP:0001507	Growth abnormality	23512	SUZ12	OMIM:618786
HP:0001507	Growth abnormality	23512	SUZ12	ORPHA:3447
HP:0001507	Growth abnormality	26580	BSCL2	OMIM:269700
HP:0001507	Growth abnormality	57680	CHD8	OMIM:615032
HP:0001507	Growth abnormality	5728	PTEN	ORPHA:109
HP:0001507	Growth abnormality	6736	SRY	OMIM:400044
HP:0001507	Growth abnormality	6736	SRY	OMIM:400045
HP:0001507	Growth abnormality	715	C1R	OMIM:130080
HP:0001507	Growth abnormality	6942	TCF20	OMIM:618430
HP:0001507	Growth abnormality	9158	FIBP	OMIM:617107
HP:0001507	Growth abnormality	4221	MEN1	ORPHA:99725
HP:0001507	Growth abnormality	2239	GPC4	ORPHA:373
HP:0001507	Growth abnormality	2239	GPC4	OMIM:312870
HP:0001507	Growth abnormality	2719	GPC3	ORPHA:373
HP:0001507	Growth abnormality	2719	GPC3	OMIM:312870
HP:0001507	Growth abnormality	6709	SPTAN1	OMIM:620528
HP:0001507	Growth abnormality	6611	SMS	OMIM:309583
HP:0001507	Growth abnormality	4087	SMAD2	OMIM:619656
HP:0001507	Growth abnormality	4087	SMAD2	ORPHA:60030
HP:0001507	Growth abnormality	4087	SMAD2	ORPHA:91387
HP:0001507	Growth abnormality	51684	SUFU	OMIM:617757
HP:0001507	Growth abnormality	875	CBS	OMIM:236200
HP:0001507	Growth abnormality	2146	EZH2	ORPHA:3447
HP:0001507	Growth abnormality	56246	MRAP	ORPHA:361
HP:0001507	Growth abnormality	6770	STAR	ORPHA:361
HP:0001507	Growth abnormality	23530	NNT	ORPHA:361
HP:0001507	Growth abnormality	10587	TXNRD2	ORPHA:361
HP:0001507	Growth abnormality	4038	LRP4	ORPHA:3152
HP:0001507	Growth abnormality	50964	SOST	ORPHA:3152
HP:0001507	Growth abnormality	4883	NPR3	OMIM:619543
HP:0001507	Growth abnormality	18	ABAT	OMIM:613163
HP:0001507	Growth abnormality	7046	TGFBR1	ORPHA:60030
HP:0001507	Growth abnormality	7046	TGFBR1	ORPHA:91387
HP:0001507	Growth abnormality	10526	IPO8	ORPHA:60030
HP:0001507	Growth abnormality	7048	TGFBR2	ORPHA:60030
HP:0001507	Growth abnormality	7048	TGFBR2	ORPHA:91387
HP:0001507	Growth abnormality	7042	TGFB2	ORPHA:60030
HP:0001507	Growth abnormality	7042	TGFB2	OMIM:614816
HP:0001507	Growth abnormality	7042	TGFB2	ORPHA:91387
HP:0001507	Growth abnormality	4088	SMAD3	ORPHA:60030
HP:0001507	Growth abnormality	4088	SMAD3	ORPHA:91387
HP:0001507	Growth abnormality	4629	MYH11	ORPHA:91387
HP:0001507	Growth abnormality	4015	LOX	ORPHA:91387
HP:0001507	Growth abnormality	59	ACTA2	ORPHA:91387
HP:0001507	Growth abnormality	5592	PRKG1	ORPHA:91387
HP:0001507	Growth abnormality	2301	FOXE3	ORPHA:91387
HP:0001507	Growth abnormality	4144	MAT2A	ORPHA:91387
HP:0001507	Growth abnormality	23493	HEY2	ORPHA:91387
HP:0001507	Growth abnormality	8076	MFAP5	ORPHA:91387
HP:0001507	Growth abnormality	4638	MYLK	ORPHA:91387
HP:0001507	Growth abnormality	79875	THSD4	ORPHA:91387
HP:0001507	Growth abnormality	2006	ELN	ORPHA:91387
HP:0001507	Growth abnormality	6938	TCF12	OMIM:619718
HP:0001507	Growth abnormality	5447	POR	ORPHA:95699
HP:0001507	Growth abnormality	64072	CDH23	ORPHA:2965
HP:0001507	Growth abnormality	64072	CDH23	ORPHA:91347
HP:0001507	Growth abnormality	7040	TGFB1	OMIM:131300
HP:0001507	Growth abnormality	7040	TGFB1	ORPHA:1328
HP:0001507	Growth abnormality	55366	LGR4	OMIM:619613
HP:0001507	Growth abnormality	6845	VAMP7	ORPHA:251510
HP:0001507	Growth abnormality	4214	MAP3K1	ORPHA:251510
HP:0001507	Growth abnormality	57647	DHX37	ORPHA:251510
HP:0001507	Growth abnormality	23414	ZFPM2	ORPHA:251510
HP:0001507	Growth abnormality	190	NR0B1	ORPHA:251510
HP:0001507	Growth abnormality	190	NR0B1	OMIM:300200
HP:0001507	Growth abnormality	190	NR0B1	ORPHA:95702
HP:0001507	Growth abnormality	23767	FLRT3	OMIM:615271
HP:0001507	Growth abnormality	23767	FLRT3	ORPHA:478
HP:0001507	Growth abnormality	493856	CISD2	ORPHA:3463
HP:0001507	Growth abnormality	55210	ATAD3A	ORPHA:496790
HP:0001507	Growth abnormality	3972	LHB	OMIM:228300
HP:0001507	Growth abnormality	59336	PRDM13	OMIM:619761
HP:0001507	Growth abnormality	78995	HROB	OMIM:620897
HP:0001507	Growth abnormality	1188	CLCNKB	ORPHA:358
HP:0001507	Growth abnormality	10371	SEMA3A	ORPHA:478
HP:0001507	Growth abnormality	79625	NDNF	ORPHA:478
HP:0001507	Growth abnormality	389549	FEZF1	ORPHA:478
HP:0001507	Growth abnormality	1630	DCC	ORPHA:478
HP:0001507	Growth abnormality	3730	ANOS1	ORPHA:478
HP:0001507	Growth abnormality	54756	IL17RD	ORPHA:478
HP:0001507	Growth abnormality	285025	CCDC141	ORPHA:478
HP:0001507	Growth abnormality	2488	FSHB	ORPHA:52901
HP:0001507	Growth abnormality	1363	CPE	OMIM:619326
HP:0001507	Growth abnormality	2592	GALT	ORPHA:79239
HP:0001507	Growth abnormality	1583	CYP11A1	ORPHA:289548
HP:0001507	Growth abnormality	1583	CYP11A1	ORPHA:168558
HP:0001507	Growth abnormality	953	ENTPD1	ORPHA:401810
HP:0001507	Growth abnormality	953	ENTPD1	OMIM:615683
HP:0001507	Growth abnormality	6711	SPTBN1	OMIM:619475
HP:0001507	Growth abnormality	80152	CENPT	OMIM:618702
HP:0001507	Growth abnormality	60529	ALX4	ORPHA:52022
HP:0001507	Growth abnormality	51317	PHF21A	ORPHA:52022
HP:0001507	Growth abnormality	4841	NONO	OMIM:300967
HP:0001507	Growth abnormality	4841	NONO	ORPHA:466791
HP:0001507	Growth abnormality	79983	POF1B	OMIM:300604
HP:0001507	Growth abnormality	1984	EIF5A	OMIM:619376
HP:0001507	Growth abnormality	4693	NDP	ORPHA:649
HP:0001507	Growth abnormality	7543	ZFX	OMIM:301118
HP:0001507	Growth abnormality	9325	TRIP4	ORPHA:486815
HP:0001507	Growth abnormality	129563	DIS3L2	OMIM:267000
HP:0001507	Growth abnormality	4574	MT-TS1	OMIM:540000
HP:0001507	Growth abnormality	4575	MT-TS2	OMIM:540000
HP:0001507	Growth abnormality	4535	MT-ND1	OMIM:540000
HP:0001507	Growth abnormality	4567	MT-TL1	OMIM:540000
HP:0001507	Growth abnormality	4512	MT-CO1	OMIM:540000
HP:0001507	Growth abnormality	4513	MT-CO2	OMIM:540000
HP:0001507	Growth abnormality	4514	MT-CO3	OMIM:540000
HP:0001507	Growth abnormality	4519	MT-CYB	OMIM:540000
HP:0001507	Growth abnormality	4511	MT-TC	OMIM:540000
HP:0001507	Growth abnormality	4572	MT-TQ	OMIM:540000
HP:0001507	Growth abnormality	4577	MT-TV	OMIM:540000
HP:0001507	Growth abnormality	4578	MT-TW	OMIM:540000
HP:0001507	Growth abnormality	4558	MT-TF	OMIM:540000
HP:0001507	Growth abnormality	4566	MT-TK	OMIM:540000
HP:0001507	Growth abnormality	4540	MT-ND5	OMIM:540000
HP:0001507	Growth abnormality	4541	MT-ND6	OMIM:540000
HP:0001507	Growth abnormality	1589	CYP21A2	OMIM:201910
HP:0001507	Growth abnormality	1497	CTNS	OMIM:219900
HP:0001507	Growth abnormality	6448	SGSH	OMIM:252900
HP:0001507	Growth abnormality	4256	MGP	OMIM:245150
HP:0001507	Growth abnormality	593	BCKDHA	OMIM:248600
HP:0001507	Growth abnormality	10020	GNE	OMIM:269921
HP:0001507	Growth abnormality	3756	KCNH1	OMIM:135500
HP:0001507	Growth abnormality	9487	PIGL	OMIM:280000
HP:0001507	Growth abnormality	1280	COL2A1	OMIM:609162
HP:0001507	Growth abnormality	3081	HGD	OMIM:203500
HP:0001507	Growth abnormality	138050	HGSNAT	OMIM:252930
HP:0001507	Growth abnormality	3759	KCNJ2	OMIM:170390
HP:0001507	Growth abnormality	10157	AASS	ORPHA:3124
HP:0001507	Growth abnormality	2778	GNAS	ORPHA:562
HP:0001507	Growth abnormality	3709	ITPR2	OMIM:106190
HP:0001507	Growth abnormality	367	AR	OMIM:300068
HP:0001507	Growth abnormality	5167	ENPP1	OMIM:208000
HP:0001507	Growth abnormality	343637	RSPO4	OMIM:206800
HP:0001507	Growth abnormality	1811	SLC26A3	OMIM:214700
HP:0001507	Growth abnormality	6905	TBCE	OMIM:617207
HP:0001507	Growth abnormality	5696	PSMB8	OMIM:256040
HP:0001507	Growth abnormality	1277	COL1A1	OMIM:166200
HP:0001507	Growth abnormality	1991	ELANE	OMIM:202700
HP:0001507	Growth abnormality	2799	GNS	OMIM:252940
HP:0001507	Growth abnormality	4041	LRP5	OMIM:144750
HP:0001507	Growth abnormality	2263	FGFR2	OMIM:101200
HP:0001507	Growth abnormality	5573	PRKAR1A	ORPHA:1359
HP:0001507	Growth abnormality	50940	PDE11A	ORPHA:1359
HP:0001507	Growth abnormality	1584	CYP11B1	ORPHA:90795
HP:0001507	Growth abnormality	7428	VHL	OMIM:263400
HP:0001507	Growth abnormality	5993	RFX5	OMIM:620816
HP:0001507	Growth abnormality	5993	RFX5	ORPHA:572
HP:0001507	Growth abnormality	84334	COA8	ORPHA:436271
HP:0001507	Growth abnormality	1131	CHRM3	ORPHA:2970
HP:0001507	Growth abnormality	51	ACOX1	ORPHA:2971
HP:0001507	Growth abnormality	5651	TMPRSS15	OMIM:226200
HP:0001507	Growth abnormality	27245	AHDC1	ORPHA:412069
HP:0001507	Growth abnormality	27245	AHDC1	OMIM:615829
HP:0001507	Growth abnormality	5184	PEPD	OMIM:170100
HP:0001507	Growth abnormality	84466	MEGF10	OMIM:614399
HP:0001507	Growth abnormality	8029	CUBN	ORPHA:35858
HP:0001507	Growth abnormality	1080	CFTR	OMIM:219700
HP:0001507	Growth abnormality	1080	CFTR	ORPHA:586
HP:0001507	Growth abnormality	2212	FCGR2A	OMIM:219700
HP:0001507	Growth abnormality	64121	RRAGC	OMIM:620609
HP:0001507	Growth abnormality	23327	NEDD4L	OMIM:617201
HP:0001507	Growth abnormality	10125	RASGRP1	OMIM:618534
HP:0001507	Growth abnormality	5373	PMM2	OMIM:212065
HP:0001507	Growth abnormality	5373	PMM2	ORPHA:79318
HP:0001507	Growth abnormality	1187	CLCNKA	OMIM:613090
HP:0001507	Growth abnormality	1187	CLCNKA	ORPHA:89938
HP:0001507	Growth abnormality	4261	CIITA	OMIM:209920
HP:0001507	Growth abnormality	4261	CIITA	ORPHA:572
HP:0001507	Growth abnormality	51692	CPSF3	OMIM:619876
HP:0001507	Growth abnormality	3507	IGHM	OMIM:601495
HP:0001507	Growth abnormality	3507	IGHM	ORPHA:33110
HP:0001507	Growth abnormality	2947	GSTM3	ORPHA:586
HP:0001507	Growth abnormality	2729	GCLC	ORPHA:586
HP:0001507	Growth abnormality	1084	CEACAM3	ORPHA:586
HP:0001507	Growth abnormality	6556	SLC11A1	ORPHA:586
HP:0001507	Growth abnormality	51164	DCTN4	ORPHA:586
HP:0001507	Growth abnormality	3783	KCNN4	ORPHA:586
HP:0001507	Growth abnormality	1909	EDNRA	ORPHA:586
HP:0001507	Growth abnormality	115019	SLC26A9	ORPHA:586
HP:0001507	Growth abnormality	3077	HFE	ORPHA:586
HP:0001507	Growth abnormality	11254	SLC6A14	ORPHA:586
HP:0001507	Growth abnormality	5265	SERPINA1	ORPHA:586
HP:0001507	Growth abnormality	22802	CLCA4	ORPHA:586
HP:0001507	Growth abnormality	4680	CEACAM6	ORPHA:586
HP:0001507	Growth abnormality	57169	ZNFX1	OMIM:619644
HP:0001507	Growth abnormality	2232	FDXR	ORPHA:543470
HP:0001507	Growth abnormality	11311	VPS45	OMIM:615285
HP:0001507	Growth abnormality	4285	MIPEP	OMIM:617228
HP:0001507	Growth abnormality	90	ACVR1	ORPHA:337
HP:0001507	Growth abnormality	4351	MPI	OMIM:602579
HP:0001507	Growth abnormality	4351	MPI	ORPHA:79319
HP:0001507	Growth abnormality	6603	SMARCD2	OMIM:617475
HP:0001507	Growth abnormality	111	ADCY5	OMIM:619651
HP:0001507	Growth abnormality	125988	MICOS13	OMIM:618329
HP:0001507	Growth abnormality	54148	MRPL39	OMIM:620646
HP:0001507	Growth abnormality	56652	TWNK	ORPHA:254892
HP:0001507	Growth abnormality	11232	POLG2	ORPHA:254892
HP:0001507	Growth abnormality	11232	POLG2	OMIM:610131
HP:0001507	Growth abnormality	10564	ARFGEF2	OMIM:608097
HP:0001507	Growth abnormality	2495	FTH1	OMIM:620669
HP:0001507	Growth abnormality	3659	IRF1	OMIM:620668
HP:0001507	Growth abnormality	9526	MPDU1	OMIM:609180
HP:0001507	Growth abnormality	8737	RIPK1	OMIM:618108
HP:0001507	Growth abnormality	959	CD40LG	OMIM:308230
HP:0001507	Growth abnormality	8540	AGPS	OMIM:600121
HP:0001507	Growth abnormality	5896	RAG1	OMIM:601457
HP:0001507	Growth abnormality	5896	RAG1	ORPHA:331206
HP:0001507	Growth abnormality	5896	RAG1	OMIM:603554
HP:0001507	Growth abnormality	5896	RAG1	ORPHA:39041
HP:0001507	Growth abnormality	5897	RAG2	OMIM:601457
HP:0001507	Growth abnormality	5897	RAG2	ORPHA:331206
HP:0001507	Growth abnormality	5897	RAG2	OMIM:603554
HP:0001507	Growth abnormality	5897	RAG2	ORPHA:39041
HP:0001507	Growth abnormality	3712	IVD	ORPHA:33
HP:0001507	Growth abnormality	23114	NFASC	OMIM:618356
HP:0001507	Growth abnormality	112939	NACC1	ORPHA:500545
HP:0001507	Growth abnormality	112939	NACC1	OMIM:617393
HP:0001507	Growth abnormality	8625	RFXANK	ORPHA:572
HP:0001507	Growth abnormality	8625	RFXANK	OMIM:620815
HP:0001507	Growth abnormality	537	ATP6AP1	OMIM:300972
HP:0001507	Growth abnormality	7922	SLC39A7	OMIM:619693
HP:0001507	Growth abnormality	7922	SLC39A7	ORPHA:33110
HP:0001507	Growth abnormality	2019	EN1	OMIM:619218
HP:0001507	Growth abnormality	549	AUH	OMIM:250950
HP:0001507	Growth abnormality	549	AUH	ORPHA:67046
HP:0001507	Growth abnormality	4547	MTTP	ORPHA:14
HP:0001507	Growth abnormality	51102	MECR	OMIM:617282
HP:0001507	Growth abnormality	51102	MECR	ORPHA:508093
HP:0001507	Growth abnormality	7809	BSND	OMIM:602522
HP:0001507	Growth abnormality	7809	BSND	ORPHA:89938
HP:0001507	Growth abnormality	63931	MRPS14	OMIM:618378
HP:0001507	Growth abnormality	11342	RNF13	OMIM:618379
HP:0001507	Growth abnormality	11342	RNF13	ORPHA:544503
HP:0001507	Growth abnormality	127833	SYT2	OMIM:619461
HP:0001507	Growth abnormality	9971	NR1H4	OMIM:617049
HP:0001507	Growth abnormality	435	ASL	OMIM:207900
HP:0001507	Growth abnormality	8452	CUL3	OMIM:619239
HP:0001507	Growth abnormality	162417	NAGS	OMIM:237310
HP:0001507	Growth abnormality	162417	NAGS	ORPHA:927
HP:0001507	Growth abnormality	1457	CSNK2A1	OMIM:617062
HP:0001507	Growth abnormality	200931	SLC51A	OMIM:619484
HP:0001507	Growth abnormality	9373	PLAA	ORPHA:521426
HP:0001507	Growth abnormality	9373	PLAA	OMIM:617527
HP:0001507	Growth abnormality	57038	RARS2	OMIM:611523
HP:0001507	Growth abnormality	10551	AGR2	OMIM:620233
HP:0001507	Growth abnormality	3516	RBPJ	ORPHA:974
HP:0001507	Growth abnormality	4851	NOTCH1	ORPHA:974
HP:0001507	Growth abnormality	57514	ARHGAP31	ORPHA:974
HP:0001507	Growth abnormality	57572	DOCK6	ORPHA:974
HP:0001507	Growth abnormality	285203	EOGT	ORPHA:974
HP:0001507	Growth abnormality	54567	DLL4	ORPHA:974
HP:0001507	Growth abnormality	60386	SLC25A19	OMIM:607196
HP:0001507	Growth abnormality	6748	SSR4	ORPHA:370927
HP:0001507	Growth abnormality	6748	SSR4	OMIM:300934
HP:0001507	Growth abnormality	7482	WNT2B	OMIM:618168
HP:0001507	Growth abnormality	63899	NSUN3	OMIM:619012
HP:0001507	Growth abnormality	84081	NSRP1	OMIM:620001
HP:0001507	Growth abnormality	2801	GOLGA2	OMIM:620240
HP:0001507	Growth abnormality	3030	HADHA	ORPHA:5
HP:0001507	Growth abnormality	3030	HADHA	OMIM:609015
HP:0001507	Growth abnormality	1373	CPS1	OMIM:237300
HP:0001507	Growth abnormality	5009	OTC	OMIM:311250
HP:0001507	Growth abnormality	5009	OTC	ORPHA:664
HP:0001507	Growth abnormality	80232	WDR26	ORPHA:513456
HP:0001507	Growth abnormality	80232	WDR26	OMIM:617616
HP:0001507	Growth abnormality	63916	ELMO2	ORPHA:3019
HP:0001507	Growth abnormality	8456	FOXN1	ORPHA:83471
HP:0001507	Growth abnormality	429	ASCL1	ORPHA:99803
HP:0001507	Growth abnormality	8929	PHOX2B	ORPHA:99803
HP:0001507	Growth abnormality	3242	HPD	OMIM:140350
HP:0001507	Growth abnormality	3242	HPD	ORPHA:2118
HP:0001507	Growth abnormality	771	CA12	OMIM:143860
HP:0001507	Growth abnormality	6439	SFTPB	OMIM:265120
HP:0001507	Growth abnormality	1738	DLD	ORPHA:2394
HP:0001507	Growth abnormality	64087	MCCC2	OMIM:210210
HP:0001507	Growth abnormality	50674	NEUROG3	OMIM:610370
HP:0001507	Growth abnormality	1591	CYP24A1	OMIM:143880
HP:0001507	Growth abnormality	56922	MCCC1	OMIM:210200
HP:0001507	Growth abnormality	113235	SLC46A1	OMIM:229050
HP:0001507	Growth abnormality	113235	SLC46A1	ORPHA:90045
HP:0001507	Growth abnormality	63894	VIPAS39	OMIM:613404
HP:0001507	Growth abnormality	84947	SERAC1	OMIM:614739
HP:0001507	Growth abnormality	1798	DPAGT1	ORPHA:86309
HP:0001507	Growth abnormality	6507	SLC1A3	ORPHA:2131
HP:0001507	Growth abnormality	90624	LYRM7	OMIM:615838
HP:0001507	Growth abnormality	79759	ZNF668	OMIM:620194
HP:0001507	Growth abnormality	1303	COL12A1	ORPHA:536516
HP:0001507	Growth abnormality	9440	MED17	OMIM:613668
HP:0001507	Growth abnormality	917	CD3G	OMIM:615607
HP:0001507	Growth abnormality	8813	DPM1	OMIM:608799
HP:0001507	Growth abnormality	8813	DPM1	ORPHA:79322
HP:0001507	Growth abnormality	1438	CSF2RA	OMIM:300770
HP:0001507	Growth abnormality	445	ASS1	OMIM:215700
HP:0001507	Growth abnormality	915	CD3D	OMIM:615617
HP:0001507	Growth abnormality	6314	ATXN7	ORPHA:94147
HP:0001507	Growth abnormality	8694	DGAT1	OMIM:615863
HP:0001507	Growth abnormality	1288	COL4A6	ORPHA:1018
HP:0001507	Growth abnormality	1287	COL4A5	ORPHA:1018
HP:0001507	Growth abnormality	4688	NCF2	OMIM:233710
HP:0001507	Growth abnormality	132	ADK	OMIM:614300
HP:0001507	Growth abnormality	4072	EPCAM	OMIM:613217
HP:0001507	Growth abnormality	4072	EPCAM	ORPHA:92050
HP:0001507	Growth abnormality	6948	TCN2	OMIM:275350
HP:0001507	Growth abnormality	79796	ALG9	OMIM:608776
HP:0001507	Growth abnormality	50943	FOXP3	OMIM:304790
HP:0001507	Growth abnormality	3718	JAK3	OMIM:600802
HP:0001507	Growth abnormality	54931	TRMT10C	OMIM:616974
HP:0001507	Growth abnormality	3097	HIVEP2	OMIM:616977
HP:0001507	Growth abnormality	7037	TFRC	OMIM:616740
HP:0001507	Growth abnormality	130589	GALM	ORPHA:570422
HP:0001507	Growth abnormality	6868	ADAM17	OMIM:614328
HP:0001507	Growth abnormality	84693	MCEE	OMIM:251120
HP:0001507	Growth abnormality	3868	KRT16	ORPHA:2309
HP:0001507	Growth abnormality	3872	KRT17	ORPHA:2309
HP:0001507	Growth abnormality	3853	KRT6A	ORPHA:2309
HP:0001507	Growth abnormality	3854	KRT6B	ORPHA:2309
HP:0001507	Growth abnormality	326625	MMAB	OMIM:251110
HP:0001507	Growth abnormality	11222	MRPL3	OMIM:614582
HP:0001507	Growth abnormality	51520	LARS1	OMIM:615438
HP:0001507	Growth abnormality	6476	SI	ORPHA:35122
HP:0001507	Growth abnormality	55617	TASP1	OMIM:618950
HP:0001507	Growth abnormality	6182	MRPL12	OMIM:618951
HP:0001507	Growth abnormality	57688	ZSWIM6	OMIM:617865
HP:0001507	Growth abnormality	50615	IL21R	OMIM:615207
HP:0001507	Growth abnormality	57570	TRMT5	OMIM:616539
HP:0001507	Growth abnormality	54802	TRIT1	OMIM:617873
HP:0001507	Growth abnormality	51081	MRPS7	OMIM:617872
HP:0001507	Growth abnormality	3458	IFNG	OMIM:618963
HP:0001507	Growth abnormality	5699	PSMB10	OMIM:620807
HP:0001507	Growth abnormality	4153	MBL2	OMIM:614372
HP:0001507	Growth abnormality	6929	TCF3	OMIM:619824
HP:0001507	Growth abnormality	6929	TCF3	ORPHA:33110
HP:0001507	Growth abnormality	2746	GLUD1	OMIM:606762
HP:0001507	Growth abnormality	100	ADA	ORPHA:277
HP:0001507	Growth abnormality	100	ADA	ORPHA:39041
HP:0001507	Growth abnormality	100	ADA	OMIM:102700
HP:0001507	Growth abnormality	3561	IL2RG	ORPHA:276
HP:0001507	Growth abnormality	3561	IL2RG	OMIM:300400
HP:0001507	Growth abnormality	3561	IL2RG	ORPHA:39041
HP:0001507	Growth abnormality	64421	DCLRE1C	ORPHA:275
HP:0001507	Growth abnormality	64421	DCLRE1C	OMIM:603554
HP:0001507	Growth abnormality	64421	DCLRE1C	OMIM:602450
HP:0001507	Growth abnormality	64421	DCLRE1C	ORPHA:39041
HP:0001507	Growth abnormality	4791	NFKB2	ORPHA:293978
HP:0001507	Growth abnormality	3551	IKBKB	OMIM:615592
HP:0001507	Growth abnormality	57128	LYRM4	OMIM:615595
HP:0001507	Growth abnormality	197322	ACSF3	OMIM:614265
HP:0001507	Growth abnormality	197322	ACSF3	ORPHA:289504
HP:0001507	Growth abnormality	10054	UBA2	OMIM:619959
HP:0001507	Growth abnormality	4860	PNP	OMIM:613179
HP:0001507	Growth abnormality	80270	HSD3B7	ORPHA:79301
HP:0001507	Growth abnormality	80270	HSD3B7	OMIM:607765
HP:0001507	Growth abnormality	79783	SUGCT	ORPHA:35706
HP:0001507	Growth abnormality	79783	SUGCT	OMIM:231690
HP:0001507	Growth abnormality	3074	HEXB	ORPHA:309162
HP:0001507	Growth abnormality	51111	KMT5B	OMIM:617788
HP:0001507	Growth abnormality	790	CAD	OMIM:616457
HP:0001507	Growth abnormality	6523	SLC5A1	ORPHA:35710
HP:0001507	Growth abnormality	6523	SLC5A1	OMIM:606824
HP:0001507	Growth abnormality	3284	HSD3B2	ORPHA:90791
HP:0001507	Growth abnormality	6440	SFTPC	OMIM:610913
HP:0001507	Growth abnormality	23474	ETHE1	ORPHA:51188
HP:0001507	Growth abnormality	23474	ETHE1	OMIM:602473
HP:0001507	Growth abnormality	137492	VPS37A	ORPHA:319199
HP:0001507	Growth abnormality	8560	DEGS1	OMIM:618404
HP:0001507	Growth abnormality	21	ABCA3	OMIM:610921
HP:0001507	Growth abnormality	28755	TRAC	OMIM:615387
HP:0001507	Growth abnormality	2783	GNB2	OMIM:619503
HP:0001507	Growth abnormality	55361	PI4K2A	OMIM:620732
HP:0001507	Growth abnormality	7092	TLL1	ORPHA:99106
HP:0001507	Growth abnormality	1182	CLCN3	OMIM:619512
HP:0001507	Growth abnormality	57282	SLC4A10	OMIM:620746
HP:0001507	Growth abnormality	8021	NUP214	OMIM:618426
HP:0001507	Growth abnormality	4191	MDH2	OMIM:617339
HP:0001507	Growth abnormality	166785	MMAA	OMIM:251100
HP:0001507	Growth abnormality	5551	PRF1	OMIM:603553
HP:0001507	Growth abnormality	9533	POLR1C	OMIM:616494
HP:0001507	Growth abnormality	9533	POLR1C	ORPHA:861
HP:0001507	Growth abnormality	5971	RELB	OMIM:617585
HP:0001507	Growth abnormality	2271	FH	OMIM:606812
HP:0001507	Growth abnormality	5692	PSMB4	OMIM:617591
HP:0001507	Growth abnormality	10848	PPP1R13L	OMIM:620519
HP:0001507	Growth abnormality	3930	LBR	OMIM:169400
HP:0001507	Growth abnormality	29929	ALG6	ORPHA:79320
HP:0001507	Growth abnormality	10195	ALG3	OMIM:601110
HP:0001507	Growth abnormality	27247	NFU1	OMIM:605711
HP:0001507	Growth abnormality	57505	AARS2	OMIM:614096
HP:0001507	Growth abnormality	826	CAPNS1	OMIM:620777
HP:0001507	Growth abnormality	3736	KCNA1	ORPHA:1934
HP:0001507	Growth abnormality	9091	PIGQ	ORPHA:1934
HP:0001507	Growth abnormality	140679	SLC32A1	ORPHA:1934
HP:0001507	Growth abnormality	2775	GNAO1	ORPHA:1934
HP:0001507	Growth abnormality	79751	SLC25A22	ORPHA:1934
HP:0001507	Growth abnormality	79751	SLC25A22	ORPHA:293181
HP:0001507	Growth abnormality	150094	SIK1	ORPHA:1934
HP:0001507	Growth abnormality	6326	SCN2A	ORPHA:1934
HP:0001507	Growth abnormality	6326	SCN2A	ORPHA:293181
HP:0001507	Growth abnormality	6324	SCN1B	ORPHA:1934
HP:0001507	Growth abnormality	4761	NEUROD2	ORPHA:1934
HP:0001507	Growth abnormality	204	AK2	ORPHA:33355
HP:0001507	Growth abnormality	973	CD79A	ORPHA:33110
HP:0001507	Growth abnormality	973	CD79A	OMIM:613501
HP:0001507	Growth abnormality	974	CD79B	ORPHA:33110
HP:0001507	Growth abnormality	6688	SPI1	ORPHA:33110
HP:0001507	Growth abnormality	3543	IGLL1	ORPHA:33110
HP:0001507	Growth abnormality	29760	BLNK	ORPHA:33110
HP:0001507	Growth abnormality	56262	LRRC8A	ORPHA:33110
HP:0001507	Growth abnormality	84706	GPT2	OMIM:616281
HP:0001507	Growth abnormality	84706	GPT2	ORPHA:477673
HP:0001507	Growth abnormality	30000	TNPO2	OMIM:619556
HP:0001507	Growth abnormality	79705	LRRK1	OMIM:615198
HP:0001507	Growth abnormality	8818	DPM2	ORPHA:329178
HP:0001507	Growth abnormality	26275	HIBCH	ORPHA:88639
HP:0001507	Growth abnormality	26275	HIBCH	OMIM:250620
HP:0001507	Growth abnormality	4695	NDUFA2	OMIM:618235
HP:0001507	Growth abnormality	6263	RYR3	OMIM:620310
HP:0001507	Growth abnormality	10166	SLC25A15	ORPHA:415
HP:0001507	Growth abnormality	10166	SLC25A15	OMIM:238970
HP:0001507	Growth abnormality	8869	ST3GAL5	OMIM:609056
HP:0001507	Growth abnormality	1956	EGFR	OMIM:616069
HP:0001507	Growth abnormality	3394	IRF8	OMIM:226990
HP:0001507	Growth abnormality	51079	NDUFA13	OMIM:618249
HP:0001507	Growth abnormality	4714	NDUFB8	OMIM:618252
HP:0001507	Growth abnormality	84701	COX4I2	OMIM:612714
HP:0001507	Growth abnormality	11340	EXOSC8	OMIM:616081
HP:0001507	Growth abnormality	11340	EXOSC8	ORPHA:2254
HP:0001507	Growth abnormality	9420	CYP7B1	OMIM:613812
HP:0001507	Growth abnormality	3575	IL7R	ORPHA:39041
HP:0001507	Growth abnormality	3575	IL7R	ORPHA:169154
HP:0001507	Growth abnormality	84172	POLR1B	ORPHA:861
HP:0001507	Growth abnormality	51082	POLR1D	ORPHA:861
HP:0001507	Growth abnormality	6949	TCOF1	ORPHA:861
HP:0001507	Growth abnormality	374354	NHLRC2	OMIM:618278
HP:0001507	Growth abnormality	440138	ALG11	ORPHA:280071
HP:0001507	Growth abnormality	23287	AGTPBP1	OMIM:618276
HP:0001507	Growth abnormality	23287	AGTPBP1	ORPHA:2254
HP:0001507	Growth abnormality	51703	ACSL5	OMIM:620357
HP:0001507	Growth abnormality	55898	UNC45A	OMIM:619377
HP:0001507	Growth abnormality	23636	NUP62	ORPHA:225154
HP:0001507	Growth abnormality	23636	NUP62	OMIM:271930
HP:0001507	Growth abnormality	53371	NUP54	ORPHA:225154
HP:0001507	Growth abnormality	51371	POMP	OMIM:618048
HP:0001507	Growth abnormality	210	ALAD	OMIM:612740
HP:0001507	Growth abnormality	2581	GALC	ORPHA:206436
HP:0001507	Growth abnormality	2581	GALC	OMIM:245200
HP:0001507	Growth abnormality	5660	PSAP	ORPHA:206436
HP:0001507	Growth abnormality	124454	EARS2	OMIM:614924
HP:0001507	Growth abnormality	132001	TAMM41	OMIM:620139
HP:0001507	Growth abnormality	54938	SARS2	OMIM:613845
HP:0001507	Growth abnormality	6584	SLC22A5	OMIM:212140
HP:0001507	Growth abnormality	10128	LRPPRC	OMIM:220111
HP:0001507	Growth abnormality	10128	LRPPRC	ORPHA:70472
HP:0001507	Growth abnormality	91574	MTRFR	ORPHA:254930
HP:0001507	Growth abnormality	91574	MTRFR	OMIM:613559
HP:0001507	Growth abnormality	4570	MT-TN	OMIM:220110
HP:0001507	Growth abnormality	6834	SURF1	OMIM:220110
HP:0001507	Growth abnormality	57468	SLC12A5	ORPHA:293181
HP:0001507	Growth abnormality	23236	PLCB1	ORPHA:293181
HP:0001507	Growth abnormality	3785	KCNQ2	ORPHA:293181
HP:0001507	Growth abnormality	57582	KCNT1	ORPHA:293181
HP:0001507	Growth abnormality	57465	TBC1D24	ORPHA:293181
HP:0001507	Growth abnormality	4774	NFIA	OMIM:613735
HP:0001507	Growth abnormality	1352	COX10	OMIM:619046
HP:0001507	Growth abnormality	55163	PNPO	ORPHA:79096
HP:0001507	Growth abnormality	55163	PNPO	OMIM:610090
HP:0001507	Growth abnormality	7535	ZAP70	OMIM:269840
HP:0001507	Growth abnormality	7535	ZAP70	ORPHA:911
HP:0001507	Growth abnormality	105371045	PERCC1	ORPHA:92050
HP:0001507	Growth abnormality	1136	CHRNA3	OMIM:191800
HP:0001507	Growth abnormality	340061	STING1	OMIM:615934
HP:0001507	Growth abnormality	55107	ANO1	OMIM:620045
HP:0001507	Growth abnormality	4633	MYL2	ORPHA:2020
HP:0001507	Growth abnormality	3679	ITGA7	ORPHA:2020
HP:0001507	Growth abnormality	9200	HACD1	ORPHA:2020
HP:0001507	Growth abnormality	51776	MAP3K20	ORPHA:2020
HP:0001507	Growth abnormality	28976	ACAD9	ORPHA:99901
HP:0001507	Growth abnormality	338328	GPIHBP1	OMIM:615947
HP:0001507	Growth abnormality	9255	AIMP1	OMIM:260600
HP:0001507	Growth abnormality	7443	VRK1	ORPHA:2254
HP:0001507	Growth abnormality	91137	SLC25A46	ORPHA:2254
HP:0001507	Growth abnormality	23600	AMACR	OMIM:214950
HP:0001507	Growth abnormality	5700	PSMC1	OMIM:620071
HP:0001507	Growth abnormality	5293	PIK3CD	ORPHA:397596
HP:0001507	Growth abnormality	2548	GAA	ORPHA:308552
HP:0001507	Growth abnormality	4306	NR3C2	OMIM:177735
HP:0001507	Growth abnormality	2703	GJA8	OMIM:612474
HP:0001507	Growth abnormality	55690	PACS1	ORPHA:329224
HP:0001507	Growth abnormality	79628	SH3TC2	ORPHA:99949
HP:0001507	Growth abnormality	865	CBFB	OMIM:620099
HP:0001507	Growth abnormality	2632	GBE1	OMIM:232500
HP:0001507	Growth abnormality	7167	TPI1	OMIM:615512
HP:0001507	Growth abnormality	3932	LCK	OMIM:615758
HP:0001507	Growth abnormality	5250	SLC25A3	ORPHA:91130
HP:0001507	Growth abnormality	8050	PDHX	ORPHA:255182
HP:0001507	Growth abnormality	23095	KIF1B	OMIM:256700
HP:0001507	Growth abnormality	51116	MRPS2	OMIM:617950
HP:0001507	Growth abnormality	9512	PMPCB	OMIM:617954
HP:0001507	Growth abnormality	2058	EPRS1	OMIM:617951
HP:0001507	Growth abnormality	10095	ARPC1B	OMIM:617718
HP:0001507	Growth abnormality	54664	TMEM106B	OMIM:617964
HP:0001507	Growth abnormality	89874	SLC25A21	OMIM:618811
HP:0001507	Growth abnormality	2584	GALK1	ORPHA:79237
HP:0001507	Growth abnormality	51501	HIKESHI	OMIM:616881
HP:0001507	Growth abnormality	189	AGXT	ORPHA:93598
HP:0001507	Growth abnormality	7204	TRIO	ORPHA:476126
HP:0001507	Growth abnormality	2670	GFAP	ORPHA:363717
HP:0001507	Growth abnormality	54676	GTPBP2	OMIM:617988
HP:0001507	Growth abnormality	100506658	OCLN	OMIM:251290
HP:0001507	Growth abnormality	9414	TJP2	OMIM:607748
HP:0001507	Growth abnormality	27040	LAT	OMIM:617514
HP:0001507	Growth abnormality	738	VPS51	OMIM:618606
HP:0001507	Growth abnormality	27249	MMADHC	ORPHA:79283
HP:0001507	Growth abnormality	5430	POLR2A	OMIM:618603
HP:0001507	Growth abnormality	2639	GCDH	OMIM:231670
HP:0001507	Growth abnormality	79587	CARS2	OMIM:616672
HP:0001507	Growth abnormality	7372	UMPS	OMIM:258900
HP:0001507	Growth abnormality	55753	OGDHL	OMIM:619701
HP:0001507	Growth abnormality	5052	PRDX1	OMIM:277400
HP:0001507	Growth abnormality	2582	GALE	OMIM:230350
HP:0001507	Growth abnormality	55703	POLR3B	OMIM:614381
HP:0001507	Growth abnormality	6555	SLC10A2	OMIM:613291
HP:0001507	Growth abnormality	26235	FBXL4	OMIM:615471
HP:0001507	Growth abnormality	8367	H4C5	OMIM:619950
HP:0001507	Growth abnormality	23019	CNOT1	OMIM:618500
HP:0001507	Growth abnormality	1493	CTLA4	ORPHA:436159
HP:0001507	Growth abnormality	51569	UFM1	OMIM:617899
HP:0001507	Growth abnormality	3265	HRAS	ORPHA:2612
HP:0001507	Growth abnormality	3265	HRAS	OMIM:163200
HP:0001507	Growth abnormality	3845	KRAS	ORPHA:2612
HP:0001507	Growth abnormality	3845	KRAS	OMIM:600268
HP:0001507	Growth abnormality	3845	KRAS	OMIM:163200
HP:0001507	Growth abnormality	3845	KRAS	ORPHA:3339
HP:0001507	Growth abnormality	4893	NRAS	ORPHA:2612
HP:0001507	Growth abnormality	4893	NRAS	ORPHA:389
HP:0001507	Growth abnormality	4893	NRAS	OMIM:163200
HP:0001507	Growth abnormality	4893	NRAS	OMIM:613224
HP:0001507	Growth abnormality	8518	ELP1	ORPHA:1764
HP:0001507	Growth abnormality	8518	ELP1	OMIM:223900
HP:0001507	Growth abnormality	8425	LTBP4	OMIM:613177
HP:0001507	Growth abnormality	55240	STEAP3	OMIM:615234
HP:0001507	Growth abnormality	55240	STEAP3	ORPHA:300298
HP:0001507	Growth abnormality	55823	VPS11	ORPHA:466934
HP:0001507	Growth abnormality	6898	TAT	OMIM:276600
HP:0001507	Growth abnormality	538	ATP7A	OMIM:304150
HP:0001507	Growth abnormality	538	ATP7A	ORPHA:388
HP:0001507	Growth abnormality	4047	LSS	ORPHA:2850
HP:0001507	Growth abnormality	197	AHSG	ORPHA:2850
HP:0001507	Growth abnormality	3694	ITGB6	ORPHA:2850
HP:0001507	Growth abnormality	3190	HNRNPK	ORPHA:453504
HP:0001507	Growth abnormality	3190	HNRNPK	ORPHA:352665
HP:0001507	Growth abnormality	3909	LAMA3	ORPHA:79404
HP:0001507	Growth abnormality	3909	LAMA3	ORPHA:79402
HP:0001507	Growth abnormality	3918	LAMC2	ORPHA:79404
HP:0001507	Growth abnormality	3918	LAMC2	ORPHA:79402
HP:0001507	Growth abnormality	3914	LAMB3	ORPHA:79404
HP:0001507	Growth abnormality	3914	LAMB3	ORPHA:79402
HP:0001507	Growth abnormality	5604	MAP2K1	ORPHA:389
HP:0001507	Growth abnormality	673	BRAF	ORPHA:389
HP:0001507	Growth abnormality	673	BRAF	ORPHA:54595
HP:0001507	Growth abnormality	673	BRAF	ORPHA:500
HP:0001507	Growth abnormality	673	BRAF	OMIM:613707
HP:0001507	Growth abnormality	673	BRAF	OMIM:613706
HP:0001507	Growth abnormality	1308	COL17A1	ORPHA:79406
HP:0001507	Growth abnormality	1308	COL17A1	ORPHA:79402
HP:0001507	Growth abnormality	215	ABCD1	ORPHA:388
HP:0001507	Growth abnormality	5979	RET	ORPHA:388
HP:0001507	Growth abnormality	2668	GDNF	ORPHA:388
HP:0001507	Growth abnormality	6608	SMO	ORPHA:388
HP:0001507	Growth abnormality	1889	ECE1	ORPHA:388
HP:0001507	Growth abnormality	6720	SREBF1	ORPHA:388
HP:0001507	Growth abnormality	1908	EDN3	ORPHA:388
HP:0001507	Growth abnormality	223117	SEMA3D	ORPHA:388
HP:0001507	Growth abnormality	1910	EDNRB	ORPHA:388
HP:0001507	Growth abnormality	10512	SEMA3C	ORPHA:388
HP:0001507	Growth abnormality	2064	ERBB2	ORPHA:388
HP:0001507	Growth abnormality	2065	ERBB3	ORPHA:388
HP:0001507	Growth abnormality	4902	NRTN	ORPHA:388
HP:0001507	Growth abnormality	4312	MMP1	ORPHA:79408
HP:0001507	Growth abnormality	1294	COL7A1	ORPHA:79408
HP:0001507	Growth abnormality	1294	COL7A1	ORPHA:79409
HP:0001507	Growth abnormality	1294	COL7A1	ORPHA:79410
HP:0001507	Growth abnormality	1294	COL7A1	ORPHA:79411
HP:0001507	Growth abnormality	1294	COL7A1	OMIM:226600
HP:0001507	Growth abnormality	1294	COL7A1	ORPHA:89842
HP:0001507	Growth abnormality	7849	PAX8	OMIM:218700
HP:0001507	Growth abnormality	7849	PAX8	ORPHA:95720
HP:0001507	Growth abnormality	7849	PAX8	ORPHA:95713
HP:0001507	Growth abnormality	7849	PAX8	ORPHA:95712
HP:0001507	Growth abnormality	7259	TSPYL1	OMIM:608800
HP:0001507	Growth abnormality	7259	TSPYL1	ORPHA:168593
HP:0001507	Growth abnormality	5932	RBBP8	OMIM:606744
HP:0001507	Growth abnormality	80816	ASXL3	OMIM:615485
HP:0001507	Growth abnormality	55159	RFWD3	OMIM:617784
HP:0001507	Growth abnormality	55159	RFWD3	ORPHA:84
HP:0001507	Growth abnormality	3162	HMOX1	OMIM:614034
HP:0001507	Growth abnormality	1723	DHODH	OMIM:263750
HP:0001507	Growth abnormality	2782	GNB1	ORPHA:488613
HP:0001507	Growth abnormality	2782	GNB1	OMIM:616973
HP:0001507	Growth abnormality	4000	LMNA	OMIM:248370
HP:0001507	Growth abnormality	4000	LMNA	OMIM:176670
HP:0001507	Growth abnormality	10084	PQBP1	ORPHA:93947
HP:0001507	Growth abnormality	56259	CTNNBL1	OMIM:619846
HP:0001507	Growth abnormality	120227	CYP2R1	OMIM:600081
HP:0001507	Growth abnormality	79158	GNPTAB	OMIM:252500
HP:0001507	Growth abnormality	7252	TSHB	ORPHA:90674
HP:0001507	Growth abnormality	81693	AMN	OMIM:618882
HP:0001507	Growth abnormality	6772	STAT1	OMIM:614162
HP:0001507	Growth abnormality	6772	STAT1	ORPHA:391487
HP:0001507	Growth abnormality	10584	COLEC10	OMIM:248340
HP:0001507	Growth abnormality	5832	ALDH18A1	OMIM:616586
HP:0001507	Growth abnormality	5832	ALDH18A1	ORPHA:447760
HP:0001507	Growth abnormality	55154	MSTO1	OMIM:617675
HP:0001507	Growth abnormality	55154	MSTO1	ORPHA:502423
HP:0001507	Growth abnormality	2688	GH1	OMIM:262650
HP:0001507	Growth abnormality	2688	GH1	OMIM:262400
HP:0001507	Growth abnormality	1777	DNASE2	OMIM:619858
HP:0001507	Growth abnormality	816	CAMK2B	OMIM:617799
HP:0001507	Growth abnormality	10111	RAD50	OMIM:613078
HP:0001507	Growth abnormality	10352	WARS2	OMIM:619738
HP:0001507	Growth abnormality	815	CAMK2A	OMIM:617798
HP:0001507	Growth abnormality	3423	IDS	ORPHA:217085
HP:0001507	Growth abnormality	3423	IDS	ORPHA:217093
HP:0001507	Growth abnormality	7994	KAT6A	ORPHA:457193
HP:0001507	Growth abnormality	7994	KAT6A	OMIM:616268
HP:0001507	Growth abnormality	3691	ITGB4	ORPHA:79402
HP:0001507	Growth abnormality	1716	DGUOK	OMIM:251880
HP:0001507	Growth abnormality	2626	GATA4	ORPHA:251071
HP:0001507	Growth abnormality	261734	NPHP4	OMIM:606966
HP:0001507	Growth abnormality	54968	TMEM70	OMIM:614052
HP:0001507	Growth abnormality	54968	TMEM70	ORPHA:1194
HP:0001507	Growth abnormality	1594	CYP27B1	OMIM:264700
HP:0001507	Growth abnormality	54872	PIGG	ORPHA:488635
HP:0001507	Growth abnormality	57178	ZMIZ1	OMIM:618659
HP:0001507	Growth abnormality	3340	NDST1	OMIM:616116
HP:0001507	Growth abnormality	1482	NKX2-5	OMIM:225250
HP:0001507	Growth abnormality	1482	NKX2-5	ORPHA:95713
HP:0001507	Growth abnormality	1482	NKX2-5	ORPHA:95712
HP:0001507	Growth abnormality	28514	DLL1	ORPHA:93926
HP:0001507	Growth abnormality	28514	DLL1	ORPHA:93924
HP:0001507	Growth abnormality	28514	DLL1	ORPHA:93925
HP:0001507	Growth abnormality	28514	DLL1	ORPHA:220386
HP:0001507	Growth abnormality	6496	SIX3	ORPHA:93926
HP:0001507	Growth abnormality	6496	SIX3	ORPHA:93924
HP:0001507	Growth abnormality	6496	SIX3	ORPHA:93925
HP:0001507	Growth abnormality	6496	SIX3	ORPHA:220386
HP:0001507	Growth abnormality	7050	TGIF1	ORPHA:93926
HP:0001507	Growth abnormality	7050	TGIF1	ORPHA:93924
HP:0001507	Growth abnormality	7050	TGIF1	ORPHA:93925
HP:0001507	Growth abnormality	7050	TGIF1	ORPHA:220386
HP:0001507	Growth abnormality	4838	NODAL	ORPHA:93926
HP:0001507	Growth abnormality	4838	NODAL	ORPHA:93924
HP:0001507	Growth abnormality	4838	NODAL	ORPHA:93925
HP:0001507	Growth abnormality	4838	NODAL	ORPHA:220386
HP:0001507	Growth abnormality	6469	SHH	ORPHA:93926
HP:0001507	Growth abnormality	6469	SHH	ORPHA:93924
HP:0001507	Growth abnormality	6469	SHH	ORPHA:93925
HP:0001507	Growth abnormality	6469	SHH	ORPHA:220386
HP:0001507	Growth abnormality	7546	ZIC2	ORPHA:93926
HP:0001507	Growth abnormality	7546	ZIC2	ORPHA:93924
HP:0001507	Growth abnormality	7546	ZIC2	ORPHA:93925
HP:0001507	Growth abnormality	7546	ZIC2	ORPHA:220386
HP:0001507	Growth abnormality	6491	STIL	ORPHA:93926
HP:0001507	Growth abnormality	6491	STIL	ORPHA:93924
HP:0001507	Growth abnormality	6491	STIL	ORPHA:93925
HP:0001507	Growth abnormality	6491	STIL	ORPHA:220386
HP:0001507	Growth abnormality	6491	STIL	ORPHA:2512
HP:0001507	Growth abnormality	2619	GAS1	ORPHA:93926
HP:0001507	Growth abnormality	2619	GAS1	ORPHA:93924
HP:0001507	Growth abnormality	2619	GAS1	ORPHA:93925
HP:0001507	Growth abnormality	2619	GAS1	ORPHA:220386
HP:0001507	Growth abnormality	84976	DISP1	ORPHA:93926
HP:0001507	Growth abnormality	84976	DISP1	ORPHA:93924
HP:0001507	Growth abnormality	84976	DISP1	ORPHA:93925
HP:0001507	Growth abnormality	84976	DISP1	ORPHA:220386
HP:0001507	Growth abnormality	2736	GLI2	ORPHA:93926
HP:0001507	Growth abnormality	2736	GLI2	ORPHA:93924
HP:0001507	Growth abnormality	2736	GLI2	ORPHA:93925
HP:0001507	Growth abnormality	2736	GLI2	ORPHA:95494
HP:0001507	Growth abnormality	2736	GLI2	ORPHA:220386
HP:0001507	Growth abnormality	8928	FOXH1	ORPHA:93926
HP:0001507	Growth abnormality	8928	FOXH1	ORPHA:93924
HP:0001507	Growth abnormality	8928	FOXH1	ORPHA:93925
HP:0001507	Growth abnormality	8928	FOXH1	ORPHA:220386
HP:0001507	Growth abnormality	6997	CRIPTO	ORPHA:93926
HP:0001507	Growth abnormality	6997	CRIPTO	ORPHA:93924
HP:0001507	Growth abnormality	6997	CRIPTO	ORPHA:93925
HP:0001507	Growth abnormality	6997	CRIPTO	ORPHA:220386
HP:0001507	Growth abnormality	5727	PTCH1	ORPHA:93926
HP:0001507	Growth abnormality	5727	PTCH1	ORPHA:93924
HP:0001507	Growth abnormality	5727	PTCH1	ORPHA:93925
HP:0001507	Growth abnormality	5727	PTCH1	ORPHA:220386
HP:0001507	Growth abnormality	50937	CDON	ORPHA:93926
HP:0001507	Growth abnormality	50937	CDON	ORPHA:93924
HP:0001507	Growth abnormality	50937	CDON	ORPHA:93925
HP:0001507	Growth abnormality	50937	CDON	ORPHA:220386
HP:0001507	Growth abnormality	23007	PLCH1	ORPHA:93925
HP:0001507	Growth abnormality	10735	STAG2	ORPHA:93925
HP:0001507	Growth abnormality	10735	STAG2	ORPHA:220386
HP:0001507	Growth abnormality	89910	UBE3B	ORPHA:2707
HP:0001507	Growth abnormality	8642	DCHS1	OMIM:601390
HP:0001507	Growth abnormality	4929	NR4A2	ORPHA:1617
HP:0001507	Growth abnormality	10716	TBR1	ORPHA:1617
HP:0001507	Growth abnormality	1499	CTNNB1	ORPHA:54595
HP:0001507	Growth abnormality	1499	CTNNB1	OMIM:615075
HP:0001507	Growth abnormality	9056	SLC7A7	ORPHA:470
HP:0001507	Growth abnormality	2072	ERCC4	OMIM:615272
HP:0001507	Growth abnormality	2072	ERCC4	ORPHA:84
HP:0001507	Growth abnormality	1186	CLCN7	OMIM:618541
HP:0001507	Growth abnormality	1186	CLCN7	ORPHA:667
HP:0001507	Growth abnormality	1186	CLCN7	OMIM:611490
HP:0001507	Growth abnormality	10043	TOM1	OMIM:619510
HP:0001507	Growth abnormality	54880	BCOR	OMIM:309800
HP:0001507	Growth abnormality	8260	NAA10	OMIM:309800
HP:0001507	Growth abnormality	8260	NAA10	OMIM:300855
HP:0001507	Growth abnormality	3043	HBB	ORPHA:231214
HP:0001507	Growth abnormality	3043	HBB	ORPHA:231226
HP:0001507	Growth abnormality	142680	SLC34A3	OMIM:241530
HP:0001507	Growth abnormality	142680	SLC34A3	ORPHA:157215
HP:0001507	Growth abnormality	7862	BRPF1	OMIM:617333
HP:0001507	Growth abnormality	55699	IARS2	OMIM:616007
HP:0001507	Growth abnormality	8363	H4C11	OMIM:619759
HP:0001507	Growth abnormality	79633	FAT4	OMIM:616006
HP:0001507	Growth abnormality	79633	FAT4	OMIM:615546
HP:0001507	Growth abnormality	5295	PIK3R1	OMIM:616005
HP:0001507	Growth abnormality	9841	ZBTB24	OMIM:614069
HP:0001507	Growth abnormality	148867	SLC30A7	OMIM:620501
HP:0001507	Growth abnormality	8364	H4C3	OMIM:619758
HP:0001507	Growth abnormality	6899	TBX1	ORPHA:1727
HP:0001507	Growth abnormality	6134	RPL10	ORPHA:459070
HP:0001507	Growth abnormality	6134	RPL10	OMIM:300998
HP:0001507	Growth abnormality	286	ANK1	ORPHA:251066
HP:0001507	Growth abnormality	286	ANK1	ORPHA:822
HP:0001507	Growth abnormality	229	ALDOB	ORPHA:469
HP:0001507	Growth abnormality	4598	MVK	ORPHA:343
HP:0001507	Growth abnormality	554	AVPR2	ORPHA:223
HP:0001507	Growth abnormality	359	AQP2	ORPHA:223
HP:0001507	Growth abnormality	79991	STN1	OMIM:617341
HP:0001507	Growth abnormality	8314	BAP1	OMIM:619762
HP:0001507	Growth abnormality	7750	ZMYM2	OMIM:619522
HP:0001507	Growth abnormality	50485	SMARCAL1	ORPHA:1830
HP:0001507	Growth abnormality	50485	SMARCAL1	OMIM:242900
HP:0001507	Growth abnormality	56947	MFF	ORPHA:485421
HP:0001507	Growth abnormality	56947	MFF	OMIM:617086
HP:0001507	Growth abnormality	641	BLM	OMIM:210900
HP:0001507	Growth abnormality	641	BLM	ORPHA:125
HP:0001507	Growth abnormality	22	ABCB7	ORPHA:2802
HP:0001507	Growth abnormality	11261	CHP1	OMIM:618438
HP:0001507	Growth abnormality	6901	TAFAZZIN	OMIM:302060
HP:0001507	Growth abnormality	5354	PLP1	ORPHA:280229
HP:0001507	Growth abnormality	124583	CANT1	OMIM:251450
HP:0001507	Growth abnormality	23314	SATB2	ORPHA:576283
HP:0001507	Growth abnormality	23314	SATB2	ORPHA:251019
HP:0001507	Growth abnormality	9968	MED12	OMIM:301068
HP:0001507	Growth abnormality	3978	LIG1	OMIM:619774
HP:0001507	Growth abnormality	2189	FANCG	OMIM:614082
HP:0001507	Growth abnormality	2189	FANCG	ORPHA:84
HP:0001507	Growth abnormality	55120	FANCL	OMIM:614083
HP:0001507	Growth abnormality	55120	FANCL	ORPHA:84
HP:0001507	Growth abnormality	9319	TRIP13	OMIM:617598
HP:0001507	Growth abnormality	9319	TRIP13	ORPHA:1052
HP:0001507	Growth abnormality	1758	DMP1	ORPHA:289176
HP:0001507	Growth abnormality	10463	SLC30A9	OMIM:617595
HP:0001507	Growth abnormality	8565	YARS1	OMIM:619418
HP:0001507	Growth abnormality	84168	ANTXR1	OMIM:230740
HP:0001507	Growth abnormality	84168	ANTXR1	ORPHA:2067
HP:0001507	Growth abnormality	51227	PIGP	OMIM:617599
HP:0001507	Growth abnormality	1585	CYP11B2	OMIM:610600
HP:0001507	Growth abnormality	1585	CYP11B2	OMIM:203400
HP:0001507	Growth abnormality	2316	FLNA	ORPHA:1826
HP:0001507	Growth abnormality	6885	MAP3K7	ORPHA:1826
HP:0001507	Growth abnormality	2184	FAH	OMIM:276700
HP:0001507	Growth abnormality	5836	PYGL	ORPHA:369
HP:0001507	Growth abnormality	6528	SLC5A5	OMIM:274400
HP:0001507	Growth abnormality	51311	TLR8	OMIM:301078
HP:0001507	Growth abnormality	9896	FIG4	OMIM:216340
HP:0001507	Growth abnormality	6138	RPL15	ORPHA:124
HP:0001507	Growth abnormality	6224	RPS20	ORPHA:124
HP:0001507	Growth abnormality	6165	RPL35A	ORPHA:124
HP:0001507	Growth abnormality	6132	RPL8	ORPHA:124
HP:0001507	Growth abnormality	6223	RPS19	ORPHA:124
HP:0001507	Growth abnormality	6232	RPS27	ORPHA:124
HP:0001507	Growth abnormality	55027	HEATR3	ORPHA:124
HP:0001507	Growth abnormality	6160	RPL31	ORPHA:124
HP:0001507	Growth abnormality	6201	RPS7	ORPHA:124
HP:0001507	Growth abnormality	6201	RPS7	OMIM:612563
HP:0001507	Growth abnormality	6155	RPL27	ORPHA:124
HP:0001507	Growth abnormality	6234	RPS28	ORPHA:124
HP:0001507	Growth abnormality	6135	RPL11	ORPHA:124
HP:0001507	Growth abnormality	6135	RPL11	OMIM:612562
HP:0001507	Growth abnormality	6229	RPS24	ORPHA:124
HP:0001507	Growth abnormality	6125	RPL5	ORPHA:124
HP:0001507	Growth abnormality	6125	RPL5	OMIM:612561
HP:0001507	Growth abnormality	6204	RPS10	ORPHA:124
HP:0001507	Growth abnormality	6204	RPS10	OMIM:613308
HP:0001507	Growth abnormality	2623	GATA1	ORPHA:124
HP:0001507	Growth abnormality	6133	RPL9	ORPHA:124
HP:0001507	Growth abnormality	6231	RPS26	ORPHA:124
HP:0001507	Growth abnormality	6231	RPS26	OMIM:613309
HP:0001507	Growth abnormality	11224	RPL35	ORPHA:124
HP:0001507	Growth abnormality	6218	RPS17	ORPHA:124
HP:0001507	Growth abnormality	6218	RPS17	OMIM:612527
HP:0001507	Growth abnormality	6154	RPL26	ORPHA:124
HP:0001507	Growth abnormality	6210	RPS15A	ORPHA:124
HP:0001507	Growth abnormality	90121	TSR2	ORPHA:124
HP:0001507	Growth abnormality	6141	RPL18	ORPHA:124
HP:0001507	Growth abnormality	6235	RPS29	ORPHA:124
HP:0001507	Growth abnormality	51816	ADA2	ORPHA:124
HP:0001507	Growth abnormality	6595	SMARCA2	OMIM:601358
HP:0001507	Growth abnormality	81704	DOCK8	OMIM:243700
HP:0001507	Growth abnormality	2629	GBA1	ORPHA:77261
HP:0001507	Growth abnormality	2629	GBA1	ORPHA:77259
HP:0001507	Growth abnormality	2629	GBA1	ORPHA:2072
HP:0001507	Growth abnormality	10533	ATG7	OMIM:619422
HP:0001507	Growth abnormality	81570	CLPB	OMIM:616271
HP:0001507	Growth abnormality	81570	CLPB	ORPHA:445038
HP:0001507	Growth abnormality	5888	RAD51	OMIM:617244
HP:0001507	Growth abnormality	5888	RAD51	ORPHA:84
HP:0001507	Growth abnormality	5256	PHKA2	ORPHA:264580
HP:0001507	Growth abnormality	5256	PHKA2	OMIM:306000
HP:0001507	Growth abnormality	5261	PHKG2	ORPHA:264580
HP:0001507	Growth abnormality	5261	PHKG2	OMIM:613027
HP:0001507	Growth abnormality	84188	FAR1	OMIM:616154
HP:0001507	Growth abnormality	84188	FAR1	ORPHA:438178
HP:0001507	Growth abnormality	7201	TRHR	OMIM:618573
HP:0001507	Growth abnormality	7201	TRHR	ORPHA:99832
HP:0001507	Growth abnormality	3000	GUCY2D	OMIM:204000
HP:0001507	Growth abnormality	27429	HTRA2	OMIM:617248
HP:0001507	Growth abnormality	221078	NSUN6	OMIM:620779
HP:0001507	Growth abnormality	7516	XRCC2	OMIM:617247
HP:0001507	Growth abnormality	7516	XRCC2	ORPHA:84
HP:0001507	Growth abnormality	7227	TRPS1	OMIM:190350
HP:0001507	Growth abnormality	7227	TRPS1	ORPHA:502
HP:0001507	Growth abnormality	51013	EXOSC1	OMIM:619304
HP:0001507	Growth abnormality	81603	TRIM8	OMIM:619428
HP:0001507	Growth abnormality	389827	MYMK	OMIM:254940
HP:0001507	Growth abnormality	389827	MYMK	ORPHA:1358
HP:0001507	Growth abnormality	2902	GRIN1	ORPHA:208447
HP:0001507	Growth abnormality	5626	PROP1	ORPHA:90695
HP:0001507	Growth abnormality	5626	PROP1	ORPHA:226307
HP:0001507	Growth abnormality	5626	PROP1	ORPHA:95494
HP:0001507	Growth abnormality	6658	SOX3	ORPHA:90695
HP:0001507	Growth abnormality	950	SCARB2	ORPHA:77259
HP:0001507	Growth abnormality	3480	IGF1R	ORPHA:73273
HP:0001507	Growth abnormality	3480	IGF1R	OMIM:270450
HP:0001507	Growth abnormality	9488	PIGB	OMIM:618580
HP:0001507	Growth abnormality	5076	PAX2	ORPHA:97362
HP:0001507	Growth abnormality	5087	PBX1	ORPHA:97362
HP:0001507	Growth abnormality	5087	PBX1	OMIM:617641
HP:0001507	Growth abnormality	2187	FANCB	OMIM:300514
HP:0001507	Growth abnormality	2187	FANCB	ORPHA:84
HP:0001507	Growth abnormality	51728	POLR3K	OMIM:619310
HP:0001507	Growth abnormality	10785	WDR4	OMIM:618347
HP:0001507	Growth abnormality	4719	NDUFS1	OMIM:618226
HP:0001507	Growth abnormality	55628	ZNF407	OMIM:619557
HP:0001507	Growth abnormality	79813	EHMT1	ORPHA:96147
HP:0001507	Growth abnormality	2690	GHR	ORPHA:314802
HP:0001507	Growth abnormality	170302	ARX	OMIM:308350
HP:0001507	Growth abnormality	10312	TCIRG1	ORPHA:667
HP:0001507	Growth abnormality	29887	SNX10	ORPHA:667
HP:0001507	Growth abnormality	8600	TNFSF11	ORPHA:667
HP:0001507	Growth abnormality	5308	PITX2	ORPHA:782
HP:0001507	Growth abnormality	2296	FOXC1	ORPHA:782
HP:0001507	Growth abnormality	56945	MRPS22	OMIM:611719
HP:0001507	Growth abnormality	10165	SLC25A13	OMIM:605814
HP:0001507	Growth abnormality	6792	CDKL5	ORPHA:3095
HP:0001507	Growth abnormality	6792	CDKL5	ORPHA:505652
HP:0001507	Growth abnormality	22854	NTNG1	ORPHA:3095
HP:0001507	Growth abnormality	9568	GABBR2	ORPHA:3095
HP:0001507	Growth abnormality	4204	MECP2	ORPHA:3095
HP:0001507	Growth abnormality	4204	MECP2	ORPHA:778
HP:0001507	Growth abnormality	4204	MECP2	OMIM:300260
HP:0001507	Growth abnormality	4204	MECP2	ORPHA:209370
HP:0001507	Growth abnormality	8243	SMC1A	ORPHA:3095
HP:0001507	Growth abnormality	8243	SMC1A	OMIM:301044
HP:0001507	Growth abnormality	8243	SMC1A	ORPHA:220386
HP:0001507	Growth abnormality	221496	LEMD2	OMIM:619322
HP:0001507	Growth abnormality	1387	CREBBP	ORPHA:353281
HP:0001507	Growth abnormality	1387	CREBBP	OMIM:180849
HP:0001507	Growth abnormality	6651	SON	OMIM:617140
HP:0001507	Growth abnormality	10978	CLP1	ORPHA:411493
HP:0001507	Growth abnormality	10978	CLP1	OMIM:615803
HP:0001507	Growth abnormality	22861	NLRP1	OMIM:617388
HP:0001507	Growth abnormality	79048	SECISBP2	ORPHA:171706
HP:0001507	Growth abnormality	2068	ERCC2	OMIM:610756
HP:0001507	Growth abnormality	2710	GK	OMIM:307030
HP:0001507	Growth abnormality	3417	IDH1	ORPHA:99646
HP:0001507	Growth abnormality	3417	IDH1	ORPHA:163634
HP:0001507	Growth abnormality	6904	TBCD	ORPHA:496641
HP:0001507	Growth abnormality	6904	TBCD	OMIM:617193
HP:0001507	Growth abnormality	55967	NDUFA12	OMIM:618244
HP:0001507	Growth abnormality	56915	EXOSC5	OMIM:619576
HP:0001507	Growth abnormality	51132	RLIM	OMIM:300978
HP:0001507	Growth abnormality	4125	MAN2B1	OMIM:248500
HP:0001507	Growth abnormality	80224	NUBPL	OMIM:618242
HP:0001507	Growth abnormality	50619	DEF6	OMIM:619573
HP:0001507	Growth abnormality	7965	AIMP2	OMIM:618006
HP:0001507	Growth abnormality	3376	IARS1	ORPHA:541423
HP:0001507	Growth abnormality	9820	CUL7	OMIM:273750
HP:0001507	Growth abnormality	4141	MARS1	OMIM:620323
HP:0001507	Growth abnormality	55750	AGK	OMIM:212350
HP:0001507	Growth abnormality	80324	PUS1	OMIM:600462
HP:0001507	Growth abnormality	23111	SPART	ORPHA:101000
HP:0001507	Growth abnormality	191	AHCY	ORPHA:88618
HP:0001507	Growth abnormality	5631	PRPS1	OMIM:301835
HP:0001507	Growth abnormality	8802	SUCLG1	ORPHA:17
HP:0001507	Growth abnormality	8802	SUCLG1	OMIM:245400
HP:0001507	Growth abnormality	5283	PIGH	OMIM:618010
HP:0001507	Growth abnormality	4548	MTR	OMIM:250940
HP:0001507	Growth abnormality	55186	SLC25A36	OMIM:620211
HP:0001507	Growth abnormality	2737	GLI3	OMIM:146510
HP:0001507	Growth abnormality	2737	GLI3	OMIM:174200
HP:0001507	Growth abnormality	6697	SPR	OMIM:612716
HP:0001507	Growth abnormality	6697	SPR	ORPHA:70594
HP:0001507	Growth abnormality	11285	B4GALT7	ORPHA:75496
HP:0001507	Growth abnormality	84265	POLR3GL	OMIM:619234
HP:0001507	Growth abnormality	2290	FOXG1	ORPHA:261144
HP:0001507	Growth abnormality	3852	KRT5	OMIM:619599
HP:0001507	Growth abnormality	3852	KRT5	OMIM:131760
HP:0001507	Growth abnormality	3852	KRT5	ORPHA:79396
HP:0001507	Growth abnormality	51095	TRNT1	OMIM:616084
HP:0001507	Growth abnormality	2033	EP300	OMIM:180849
HP:0001507	Growth abnormality	31	ACACA	OMIM:613933
HP:0001507	Growth abnormality	5781	PTPN11	ORPHA:500
HP:0001507	Growth abnormality	5894	RAF1	ORPHA:500
HP:0001507	Growth abnormality	2131	EXT1	ORPHA:502
HP:0001507	Growth abnormality	5885	RAD21	ORPHA:502
HP:0001507	Growth abnormality	405753	DUOXA2	OMIM:274900
HP:0001507	Growth abnormality	51360	MBTPS2	OMIM:308205
HP:0001507	Growth abnormality	51360	MBTPS2	ORPHA:85284
HP:0001507	Growth abnormality	51360	MBTPS2	ORPHA:2273
HP:0001507	Growth abnormality	136647	MPLKIP	OMIM:234050
HP:0001507	Growth abnormality	285590	SH3PXD2B	OMIM:249420
HP:0001507	Growth abnormality	8318	CDC45	OMIM:617063
HP:0001507	Growth abnormality	8318	CDC45	ORPHA:2554
HP:0001507	Growth abnormality	55755	CDK5RAP2	OMIM:604804
HP:0001507	Growth abnormality	55755	CDK5RAP2	ORPHA:2512
HP:0001507	Growth abnormality	6472	SHMT2	OMIM:619121
HP:0001507	Growth abnormality	6514	SLC2A2	ORPHA:2088
HP:0001507	Growth abnormality	64093	SMOC1	OMIM:206920
HP:0001507	Growth abnormality	4645	MYO5B	OMIM:251850
HP:0001507	Growth abnormality	6663	SOX10	OMIM:609136
HP:0001507	Growth abnormality	5080	PAX6	OMIM:120200
HP:0001507	Growth abnormality	199221	DZIP1L	ORPHA:731
HP:0001507	Growth abnormality	5314	PKHD1	ORPHA:731
HP:0001507	Growth abnormality	3988	LIPA	ORPHA:75233
HP:0001507	Growth abnormality	3090	HIC1	ORPHA:531
HP:0001507	Growth abnormality	5048	PAFAH1B1	ORPHA:531
HP:0001507	Growth abnormality	7531	YWHAE	ORPHA:531
HP:0001507	Growth abnormality	6569	SLC34A1	ORPHA:157215
HP:0001507	Growth abnormality	6569	SLC34A1	ORPHA:3337
HP:0001507	Growth abnormality	3739	KCNA4	OMIM:618284
HP:0001507	Growth abnormality	7157	TP53	OMIM:618165
HP:0001507	Growth abnormality	131118	DNAJC19	ORPHA:66634
HP:0001507	Growth abnormality	8481	OFD1	OMIM:300804
HP:0001507	Growth abnormality	8481	OFD1	ORPHA:2754
HP:0001507	Growth abnormality	5236	PGM1	OMIM:614921
HP:0001507	Growth abnormality	84464	SLX4	OMIM:613951
HP:0001507	Growth abnormality	84464	SLX4	ORPHA:84
HP:0001507	Growth abnormality	92344	GORAB	ORPHA:2078
HP:0001507	Growth abnormality	5831	PYCR1	ORPHA:2078
HP:0001507	Growth abnormality	1968	EIF2S3	ORPHA:85282
HP:0001507	Growth abnormality	81615	TMEM163	OMIM:620243
HP:0001507	Growth abnormality	23522	KAT6B	ORPHA:3047
HP:0001507	Growth abnormality	64131	XYLT1	ORPHA:370930
HP:0001507	Growth abnormality	64802	NMNAT1	OMIM:619260
HP:0001507	Growth abnormality	5965	RECQL	OMIM:620370
HP:0001507	Growth abnormality	4914	NTRK1	ORPHA:642
HP:0001507	Growth abnormality	389434	IYD	OMIM:274800
HP:0001507	Growth abnormality	50617	ATP6V0A4	OMIM:602722
HP:0001507	Growth abnormality	5257	PHKB	OMIM:261750
HP:0001507	Growth abnormality	1604	CD55	OMIM:226300
HP:0001507	Growth abnormality	3735	KARS1	OMIM:619147
HP:0001507	Growth abnormality	3735	KARS1	ORPHA:3240
HP:0001507	Growth abnormality	84842	HPDL	OMIM:619026
HP:0001507	Growth abnormality	375056	MIA3	OMIM:619269
HP:0001507	Growth abnormality	87178	PNPT1	OMIM:614932
HP:0001507	Growth abnormality	6559	SLC12A3	OMIM:263800
HP:0001507	Growth abnormality	3708	ITPR1	OMIM:206700
HP:0001507	Growth abnormality	2693	GHSR	ORPHA:314811
HP:0001507	Growth abnormality	25886	POC1A	OMIM:614813
HP:0001507	Growth abnormality	8085	KMT2D	OMIM:147920
HP:0001507	Growth abnormality	7403	KDM6A	OMIM:147920
HP:0001507	Growth abnormality	4702	NDUFA8	OMIM:619272
HP:0001507	Growth abnormality	4594	MMUT	ORPHA:289916
HP:0001507	Growth abnormality	158	ADSL	OMIM:103050
HP:0001507	Growth abnormality	4621	MYH3	ORPHA:2053
HP:0001507	Growth abnormality	259232	NALCN	ORPHA:2053
HP:0001507	Growth abnormality	144811	LACC1	ORPHA:85414
HP:0001507	Growth abnormality	4282	MIF	ORPHA:85414
HP:0001507	Growth abnormality	3123	HLA-DRB1	ORPHA:85414
HP:0001507	Growth abnormality	3569	IL6	ORPHA:85414
HP:0001507	Growth abnormality	3569	IL6	OMIM:266600
HP:0001507	Growth abnormality	3861	KRT14	OMIM:131760
HP:0001507	Growth abnormality	3861	KRT14	ORPHA:79396
HP:0001507	Growth abnormality	118429	ANTXR2	ORPHA:2176
HP:0001507	Growth abnormality	987	LRBA	OMIM:614700
HP:0001507	Growth abnormality	7518	XRCC4	ORPHA:99812
HP:0001507	Growth abnormality	3981	LIG4	ORPHA:99812
HP:0001507	Growth abnormality	55777	MBD5	ORPHA:228402
HP:0001507	Growth abnormality	3291	HSD11B2	OMIM:218030
HP:0001507	Growth abnormality	10667	FARS2	OMIM:614946
HP:0001507	Growth abnormality	2038	EPB42	ORPHA:822
HP:0001507	Growth abnormality	6521	SLC4A1	ORPHA:822
HP:0001507	Growth abnormality	6710	SPTB	ORPHA:822
HP:0001507	Growth abnormality	6708	SPTA1	ORPHA:822
HP:0001507	Growth abnormality	4784	NFIX	ORPHA:447980
HP:0001507	Growth abnormality	4281	MID1	OMIM:300000
HP:0001507	Growth abnormality	374654	KIF7	OMIM:200990
HP:0001507	Growth abnormality	374654	KIF7	ORPHA:2754
HP:0001507	Growth abnormality	613	BCR	ORPHA:261330
HP:0001507	Growth abnormality	1399	CRKL	ORPHA:261330
HP:0001507	Growth abnormality	5594	MAPK1	ORPHA:261330
HP:0001507	Growth abnormality	23149	FCHO1	OMIM:619164
HP:0001507	Growth abnormality	51506	UFC1	OMIM:618076
HP:0001507	Growth abnormality	644096	SDHAF1	OMIM:619166
HP:0001507	Growth abnormality	55651	NHP2	OMIM:613987
HP:0001507	Growth abnormality	10847	SRCAP	ORPHA:2044
HP:0001507	Growth abnormality	1717	DHCR7	ORPHA:818
HP:0001507	Growth abnormality	1717	DHCR7	OMIM:270400
HP:0001507	Growth abnormality	150468	CKAP2L	ORPHA:3255
HP:0001507	Growth abnormality	64324	NSD1	ORPHA:228415
HP:0001507	Growth abnormality	26153	KIF26A	OMIM:620156
HP:0001507	Growth abnormality	134218	DNAJC21	ORPHA:811
HP:0001507	Growth abnormality	79631	EFL1	ORPHA:811
HP:0001507	Growth abnormality	51119	SBDS	ORPHA:811
HP:0001507	Growth abnormality	4868	NPHS1	OMIM:256300
HP:0001507	Growth abnormality	25839	COG4	ORPHA:263501
HP:0001507	Growth abnormality	84992	PIGY	ORPHA:247262
HP:0001507	Growth abnormality	84992	PIGY	OMIM:616809
HP:0001507	Growth abnormality	84720	PIGO	ORPHA:247262
HP:0001507	Growth abnormality	84720	PIGO	OMIM:614749
HP:0001507	Growth abnormality	93210	PGAP3	ORPHA:247262
HP:0001507	Growth abnormality	93210	PGAP3	OMIM:615716
HP:0001507	Growth abnormality	284098	PIGW	ORPHA:247262
HP:0001507	Growth abnormality	27315	PGAP2	ORPHA:247262
HP:0001507	Growth abnormality	55650	PIGV	ORPHA:247262
HP:0001507	Growth abnormality	26277	TINF2	OMIM:613990
HP:0001507	Growth abnormality	55037	PTCD3	OMIM:619057
HP:0001507	Growth abnormality	3483	IGFALS	ORPHA:140941
HP:0001507	Growth abnormality	2538	G6PC1	OMIM:232200
HP:0001507	Growth abnormality	92579	G6PC3	OMIM:612541
HP:0001507	Growth abnormality	8792	TNFRSF11A	OMIM:612301
HP:0001507	Growth abnormality	55858	TMEM165	OMIM:614727
HP:0001507	Growth abnormality	10908	PNPLA6	ORPHA:3363
HP:0001507	Growth abnormality	672	BRCA1	ORPHA:84
HP:0001507	Growth abnormality	10459	MAD2L2	ORPHA:84
HP:0001507	Growth abnormality	29089	UBE2T	ORPHA:84
HP:0001507	Growth abnormality	675	BRCA2	ORPHA:84
HP:0001507	Growth abnormality	2177	FANCD2	ORPHA:84
HP:0001507	Growth abnormality	2175	FANCA	ORPHA:84
HP:0001507	Growth abnormality	2176	FANCC	ORPHA:84
HP:0001507	Growth abnormality	2178	FANCE	ORPHA:84
HP:0001507	Growth abnormality	2188	FANCF	ORPHA:84
HP:0001507	Growth abnormality	5889	RAD51C	ORPHA:84
HP:0001507	Growth abnormality	83990	BRIP1	ORPHA:84
HP:0001507	Growth abnormality	57697	FANCM	ORPHA:84
HP:0001507	Growth abnormality	79728	PALB2	ORPHA:84
HP:0001507	Growth abnormality	55215	FANCI	ORPHA:84
HP:0001507	Growth abnormality	7080	NKX2-1	ORPHA:209905
HP:0001507	Growth abnormality	7080	NKX2-1	ORPHA:95713
HP:0001507	Growth abnormality	7466	WFS1	OMIM:222300
HP:0001507	Growth abnormality	9184	BUB3	ORPHA:1052
HP:0001507	Growth abnormality	699	BUB1	ORPHA:1052
HP:0001507	Growth abnormality	9702	CEP57	ORPHA:1052
HP:0001507	Growth abnormality	9702	CEP57	OMIM:614114
HP:0001507	Growth abnormality	701	BUB1B	ORPHA:1052
HP:0001507	Growth abnormality	132158	GLYCTK	OMIM:220120
HP:0001507	Growth abnormality	23036	ZNF292	OMIM:619188
HP:0001507	Growth abnormality	4591	TRIM37	OMIM:253250
HP:0001507	Growth abnormality	4338	MOCS2	OMIM:252160
HP:0001507	Growth abnormality	25942	SIN3A	OMIM:613406
HP:0001507	Growth abnormality	526	ATP6V1B2	ORPHA:3473
HP:0001507	Growth abnormality	3782	KCNN3	ORPHA:3473
HP:0001507	Growth abnormality	7468	NSD2	OMIM:194190
HP:0001507	Growth abnormality	10815	CPLX1	OMIM:194190
HP:0001507	Growth abnormality	1487	CTBP1	OMIM:194190
HP:0001507	Growth abnormality	53834	FGFRL1	OMIM:194190
HP:0001507	Growth abnormality	3954	LETM1	OMIM:194190
HP:0001507	Growth abnormality	374393	FAM111B	OMIM:615704
HP:0001507	Growth abnormality	5826	ABCD4	OMIM:614857
HP:0001507	Growth abnormality	8517	IKBKG	ORPHA:98813
HP:0001507	Growth abnormality	4792	NFKBIA	ORPHA:98813
HP:0001507	Growth abnormality	1174	AP1S1	OMIM:609313
HP:0001507	Growth abnormality	3425	IDUA	OMIM:607015
HP:0001507	Growth abnormality	3425	IDUA	ORPHA:93473
HP:0001507	Growth abnormality	1588	CYP19A1	ORPHA:91
HP:0001507	Growth abnormality	3192	HNRNPU	ORPHA:238769
HP:0001507	Growth abnormality	1576	CYP3A4	OMIM:619073
HP:0001507	Growth abnormality	1727	CYB5R3	OMIM:250800
HP:0001507	Growth abnormality	5251	PHEX	ORPHA:89936
HP:0001507	Growth abnormality	8074	FGF23	ORPHA:89937
HP:0001507	Growth abnormality	56006	SMG9	OMIM:616920
HP:0001507	Growth abnormality	89884	LHX4	ORPHA:226307
HP:0001507	Growth abnormality	89884	LHX4	ORPHA:95494
HP:0001507	Growth abnormality	8022	LHX3	ORPHA:226307
HP:0001507	Growth abnormality	5449	POU1F1	ORPHA:226307
HP:0001507	Growth abnormality	5449	POU1F1	ORPHA:95494
HP:0001507	Growth abnormality	8820	HESX1	ORPHA:226307
HP:0001507	Growth abnormality	8820	HESX1	ORPHA:95494
HP:0001507	Growth abnormality	2073	ERCC5	OMIM:278780
HP:0001507	Growth abnormality	10056	FARSB	OMIM:613658
HP:0001507	Growth abnormality	3170	FOXA2	ORPHA:95494
HP:0001507	Growth abnormality	5015	OTX2	ORPHA:95494
HP:0001507	Growth abnormality	26227	PHGDH	OMIM:601815
HP:0001507	Growth abnormality	10472	ZBTB18	OMIM:612337
HP:0001507	Growth abnormality	51128	SAR1B	ORPHA:71
HP:0001507	Growth abnormality	51128	SAR1B	OMIM:246700
HP:0001507	Growth abnormality	84919	PPP1R15B	OMIM:616817
HP:0001507	Growth abnormality	388015	RTL1	ORPHA:96334
HP:0001507	Growth abnormality	8788	DLK1	ORPHA:96334
HP:0001507	Growth abnormality	55384	MEG3	ORPHA:96334
HP:0001507	Growth abnormality	1962	EHHADH	OMIM:615605
HP:0001507	Growth abnormality	1962	EHHADH	ORPHA:3337
HP:0001507	Growth abnormality	114548	NLRP3	OMIM:607115
HP:0001507	Growth abnormality	114548	NLRP3	ORPHA:1451
HP:0001507	Growth abnormality	11128	POLR3A	ORPHA:3455
HP:0001507	Growth abnormality	4867	NPHP1	OMIM:256100
HP:0001507	Growth abnormality	2628	GATM	ORPHA:3337
HP:0001507	Growth abnormality	137682	NDUFAF6	ORPHA:3337
HP:0001507	Growth abnormality	50628	GEMIN4	OMIM:617913
HP:0001507	Growth abnormality	5824	PEX19	OMIM:614886
HP:0001507	Growth abnormality	117581	TWIST2	ORPHA:920
HP:0001507	Growth abnormality	28962	OSTM1	OMIM:259720
HP:0001507	Growth abnormality	226	ALDOA	ORPHA:57
HP:0001507	Growth abnormality	51067	YARS2	OMIM:613561
HP:0001507	Growth abnormality	667	DST	OMIM:614653
HP:0001507	Growth abnormality	6664	SOX11	OMIM:615866
HP:0001507	Growth abnormality	6664	SOX11	ORPHA:1465
HP:0001507	Growth abnormality	63895	PIEZO2	ORPHA:2461
HP:0001507	Growth abnormality	1828	DSG1	OMIM:615508
HP:0001507	Growth abnormality	5830	PEX5	OMIM:616716
HP:0001507	Growth abnormality	9663	LPIN2	OMIM:609628
HP:0001507	Growth abnormality	51062	ATL1	ORPHA:100984
HP:0001507	Growth abnormality	91949	COG7	OMIM:608779
HP:0001507	Growth abnormality	22856	CHSY1	ORPHA:363417
HP:0001507	Growth abnormality	3033	HADH	OMIM:231530
HP:0001507	Growth abnormality	5122	PCSK1	ORPHA:71528
HP:0001507	Growth abnormality	5648	MASP1	OMIM:257920
HP:0001507	Growth abnormality	657	BMPR1A	ORPHA:329971
HP:0001507	Growth abnormality	4089	SMAD4	ORPHA:329971
HP:0001507	Growth abnormality	2022	ENG	ORPHA:329971
HP:0001507	Growth abnormality	84529	CDIN1	OMIM:615631
HP:0001507	Growth abnormality	65062	TMEM237	OMIM:614424
HP:0001507	Growth abnormality	5443	POMC	ORPHA:71526
HP:0001507	Growth abnormality	546	ATRX	OMIM:301040
HP:0001507	Growth abnormality	59341	TRPV4	ORPHA:93314
HP:0001507	Growth abnormality	79650	USB1	OMIM:604173
HP:0001507	Growth abnormality	1806	DPYD	OMIM:274270
HP:0001507	Growth abnormality	55784	MCTP2	ORPHA:1596
HP:0001507	Growth abnormality	5429	POLH	OMIM:278750
HP:0001507	Growth abnormality	51010	EXOSC3	OMIM:614678
HP:0001507	Growth abnormality	59067	IL21	OMIM:615767
HP:0001507	Growth abnormality	6513	SLC2A1	OMIM:608885
HP:0001507	Growth abnormality	5053	PAH	ORPHA:79254
HP:0001507	Growth abnormality	54820	NDE1	OMIM:605013
HP:0001507	Growth abnormality	54820	NDE1	OMIM:614019
HP:0001507	Growth abnormality	79840	NHEJ1	ORPHA:169079
HP:0001507	Growth abnormality	7253	TSHR	ORPHA:95720
HP:0001507	Growth abnormality	7253	TSHR	ORPHA:95713
HP:0001507	Growth abnormality	5172	SLC26A4	ORPHA:95720
HP:0001507	Growth abnormality	5172	SLC26A4	ORPHA:95713
HP:0001507	Growth abnormality	2542	SLC37A4	ORPHA:79259
HP:0001507	Growth abnormality	101929726	MYMX	ORPHA:1358
HP:0001507	Growth abnormality	6657	SOX2	ORPHA:77298
HP:0001507	Growth abnormality	8671	SLC4A4	OMIM:604278
HP:0001507	Growth abnormality	10841	FTCD	OMIM:229100
HP:0001507	Growth abnormality	9401	RECQL4	ORPHA:1225
HP:0001507	Growth abnormality	9401	RECQL4	ORPHA:221016
HP:0001507	Growth abnormality	6597	SMARCA4	ORPHA:1465
HP:0001507	Growth abnormality	6598	SMARCB1	ORPHA:1465
HP:0001507	Growth abnormality	6659	SOX4	ORPHA:1465
HP:0001507	Growth abnormality	8289	ARID1A	ORPHA:1465
HP:0001507	Growth abnormality	5977	DPF2	ORPHA:1465
HP:0001507	Growth abnormality	6601	SMARCC2	ORPHA:1465
HP:0001507	Growth abnormality	6602	SMARCD1	ORPHA:1465
HP:0001507	Growth abnormality	57492	ARID1B	ORPHA:1465
HP:0001507	Growth abnormality	196528	ARID2	ORPHA:1465
HP:0001507	Growth abnormality	6605	SMARCE1	ORPHA:1465
HP:0001507	Growth abnormality	2304	FOXE1	ORPHA:95713
HP:0001507	Growth abnormality	51741	WWOX	OMIM:614322
HP:0001507	Growth abnormality	4358	MPV17	OMIM:256810
HP:0001507	Growth abnormality	10616	RBCK1	OMIM:615895
HP:0001507	Growth abnormality	83987	CCDC8	OMIM:614205
HP:0001507	Growth abnormality	3141	HLCS	ORPHA:79242
HP:0001507	Growth abnormality	81620	CDT1	ORPHA:2554
HP:0001507	Growth abnormality	5000	ORC4	ORPHA:2554
HP:0001507	Growth abnormality	23594	ORC6	ORPHA:2554
HP:0001507	Growth abnormality	990	CDC6	ORPHA:2554
HP:0001507	Growth abnormality	4998	ORC1	ORPHA:2554
HP:0001507	Growth abnormality	51053	GMNN	ORPHA:2554
HP:0001507	Growth abnormality	54539	NDUFB11	ORPHA:2556
HP:0001507	Growth abnormality	1349	COX7B	ORPHA:2556
HP:0001507	Growth abnormality	3052	HCCS	ORPHA:2556
HP:0001507	Growth abnormality	5422	POLA1	OMIM:301030
HP:0001507	Growth abnormality	64127	NOD2	OMIM:266600
HP:0001507	Growth abnormality	7067	THRA	OMIM:614450
HP:0001507	Growth abnormality	57511	COG6	OMIM:614576
HP:0001507	Growth abnormality	7421	VDR	OMIM:277440
HP:0001507	Growth abnormality	1729	DIAPH1	OMIM:616632
HP:0001507	Growth abnormality	6785	ELOVL4	OMIM:614457
HP:0001507	Growth abnormality	3418	IDH2	ORPHA:163634
HP:0001507	Growth abnormality	2313	FLI1	ORPHA:2308
HP:0001507	Growth abnormality	7074	TIAM1	OMIM:619908
HP:0001507	Growth abnormality	59344	ALOXE3	OMIM:242100
HP:0001507	Growth abnormality	242	ALOX12B	OMIM:242100
HP:0001507	Growth abnormality	2464	FRA16E	OMIM:136570
HP:0001507	Growth abnormality	10269	ZMPSTE24	OMIM:608612
HP:0001507	Growth abnormality	11019	LIAS	OMIM:614462
HP:0001507	Growth abnormality	10367	MICU1	OMIM:615673
HP:0001507	Growth abnormality	55180	LINS1	OMIM:614340
HP:0001507	Growth abnormality	81689	ISCA1	OMIM:617613
HP:0001507	Growth abnormality	1861	TOR1A	OMIM:618947
HP:0001507	Growth abnormality	4337	MOCS1	OMIM:252150
HP:0001507	Growth abnormality	6925	TCF4	ORPHA:2896
HP:0001507	Growth abnormality	26503	SLC17A5	OMIM:604369
HP:0001507	Growth abnormality	1718	DHCR24	ORPHA:35107
HP:0001507	Growth abnormality	4780	NFE2L2	OMIM:617744
HP:0001507	Growth abnormality	4190	MDH1	OMIM:618959
HP:0001507	Growth abnormality	3587	IL10RA	OMIM:613148
HP:0001507	Growth abnormality	6519	SLC3A1	ORPHA:163690
HP:0001507	Growth abnormality	6519	SLC3A1	ORPHA:163693
HP:0001507	Growth abnormality	9581	PREPL	ORPHA:163690
HP:0001507	Growth abnormality	9581	PREPL	ORPHA:163693
HP:0001507	Growth abnormality	5456	POU3F4	ORPHA:1435
HP:0001507	Growth abnormality	55691	FRMD4A	ORPHA:466688
HP:0001507	Growth abnormality	5495	PPM1B	ORPHA:163693
HP:0001507	Growth abnormality	79823	CAMKMT	ORPHA:163693
HP:0001507	Growth abnormality	1537	CYC1	OMIM:615453
HP:0001507	Growth abnormality	551	AVP	ORPHA:30925
HP:0001507	Growth abnormality	1284	COL4A2	OMIM:614483
HP:0001507	Growth abnormality	4724	NDUFS4	OMIM:252010
HP:0001507	Growth abnormality	8815	BANF1	OMIM:614008
HP:0001507	Growth abnormality	25974	MMACHC	ORPHA:79282
HP:0001507	Growth abnormality	55788	LMBRD1	ORPHA:79284
HP:0001507	Growth abnormality	1807	DPYS	OMIM:222748
HP:0001507	Growth abnormality	26123	TCTN3	ORPHA:2753
HP:0001507	Growth abnormality	26123	TCTN3	ORPHA:2754
HP:0001507	Growth abnormality	71	ACTG1	ORPHA:2995
HP:0001507	Growth abnormality	60	ACTB	ORPHA:2995
HP:0001507	Growth abnormality	9451	EIF2AK3	ORPHA:1667
HP:0001507	Growth abnormality	79583	TMEM231	ORPHA:2754
HP:0001507	Growth abnormality	10210	TOPORS	ORPHA:2754
HP:0001507	Growth abnormality	9851	KIAA0753	ORPHA:2754
HP:0001507	Growth abnormality	5147	PDE6D	ORPHA:2754
HP:0001507	Growth abnormality	65250	CPLANE1	ORPHA:2754
HP:0001507	Growth abnormality	51259	TMEM216	ORPHA:2754
HP:0001507	Growth abnormality	317662	FAM149B1	ORPHA:2754
HP:0001507	Growth abnormality	11113	CIT	ORPHA:2512
HP:0001507	Growth abnormality	9928	KIF14	ORPHA:2512
HP:0001507	Growth abnormality	22995	CEP152	ORPHA:2512
HP:0001507	Growth abnormality	284403	WDR62	ORPHA:2512
HP:0001507	Growth abnormality	55262	TRAPPC14	ORPHA:2512
HP:0001507	Growth abnormality	163786	SASS6	ORPHA:2512
HP:0001507	Growth abnormality	29920	PYCR2	ORPHA:2512
HP:0001507	Growth abnormality	84879	MFSD2A	ORPHA:2512
HP:0001507	Growth abnormality	4176	MCM7	ORPHA:2512
HP:0001507	Growth abnormality	80254	CEP63	ORPHA:2512
HP:0001507	Growth abnormality	29081	METTL5	ORPHA:2512
HP:0001507	Growth abnormality	79023	NUP37	ORPHA:2512
HP:0001507	Growth abnormality	23310	NCAPD3	ORPHA:2512
HP:0001507	Growth abnormality	6301	SARS1	ORPHA:2512
HP:0001507	Growth abnormality	79648	MCPH1	ORPHA:2512
HP:0001507	Growth abnormality	23141	ANKLE2	ORPHA:2512
HP:0001507	Growth abnormality	259266	ASPM	ORPHA:2512
HP:0001507	Growth abnormality	7109	TRAPPC10	ORPHA:2512
HP:0001507	Growth abnormality	7453	WARS1	ORPHA:2512
HP:0001507	Growth abnormality	1911	PHC1	ORPHA:2512
HP:0001507	Growth abnormality	1062	CENPE	ORPHA:2512
HP:0001507	Growth abnormality	6884	TAF13	ORPHA:2512
HP:0001507	Growth abnormality	9662	CEP135	ORPHA:2512
HP:0001507	Growth abnormality	57082	KNL1	ORPHA:2512
HP:0001507	Growth abnormality	1021	CDK6	ORPHA:2512
HP:0001507	Growth abnormality	7043	TGFB3	OMIM:615582
HP:0001507	Growth abnormality	22827	PUF60	OMIM:615583
HP:0001507	Growth abnormality	10892	MALT1	OMIM:615468
HP:0001507	Growth abnormality	54361	WNT4	ORPHA:139466
HP:0001507	Growth abnormality	1794	DOCK2	OMIM:616433
HP:0001507	Growth abnormality	57728	WDR19	OMIM:614377
HP:0001507	Growth abnormality	58508	KMT2C	OMIM:617768
HP:0001507	Growth abnormality	63901	FAM111A	ORPHA:93325
HP:0001507	Growth abnormality	3762	KCNJ5	ORPHA:37553
HP:0001507	Growth abnormality	64682	ANAPC1	ORPHA:221008
HP:0001507	Growth abnormality	7528	YY1	ORPHA:506358
HP:0001507	Growth abnormality	7528	YY1	OMIM:617557
HP:0001507	Growth abnormality	3651	PDX1	OMIM:260370
HP:0001507	Growth abnormality	3651	PDX1	ORPHA:552
HP:0001507	Growth abnormality	3651	PDX1	ORPHA:99885
HP:0001507	Growth abnormality	2218	FKTN	ORPHA:272
HP:0001507	Growth abnormality	25915	NDUFAF3	ORPHA:2609
HP:0001507	Growth abnormality	51103	NDUFAF1	ORPHA:2609
HP:0001507	Growth abnormality	91942	NDUFAF2	ORPHA:2609
HP:0001507	Growth abnormality	51300	TIMMDC1	ORPHA:2609
HP:0001507	Growth abnormality	4716	NDUFB10	ORPHA:2609
HP:0001507	Growth abnormality	4716	NDUFB10	OMIM:619003
HP:0001507	Growth abnormality	4723	NDUFV1	ORPHA:2609
HP:0001507	Growth abnormality	55572	FOXRED1	ORPHA:2609
HP:0001507	Growth abnormality	284184	NDUFAF8	ORPHA:2609
HP:0001507	Growth abnormality	284184	NDUFAF8	OMIM:618776
HP:0001507	Growth abnormality	55863	TMEM126B	ORPHA:2609
HP:0001507	Growth abnormality	4537	MT-ND3	ORPHA:2609
HP:0001507	Growth abnormality	4729	NDUFV2	ORPHA:2609
HP:0001507	Growth abnormality	4694	NDUFA1	ORPHA:2609
HP:0001507	Growth abnormality	4720	NDUFS2	ORPHA:2609
HP:0001507	Growth abnormality	4726	NDUFS6	ORPHA:2609
HP:0001507	Growth abnormality	4728	NDUFS8	ORPHA:2609
HP:0001507	Growth abnormality	4722	NDUFS3	ORPHA:2609
HP:0001507	Growth abnormality	79133	NDUFAF5	ORPHA:2609
HP:0001507	Growth abnormality	79133	NDUFAF5	OMIM:618238
HP:0001507	Growth abnormality	126328	NDUFA11	ORPHA:2609
HP:0001507	Growth abnormality	4709	NDUFB3	ORPHA:2609
HP:0001507	Growth abnormality	4709	NDUFB3	OMIM:618246
HP:0001507	Growth abnormality	29078	NDUFAF4	ORPHA:2609
HP:0001507	Growth abnormality	29078	NDUFAF4	OMIM:618237
HP:0001507	Growth abnormality	374291	NDUFS7	ORPHA:2609
HP:0001507	Growth abnormality	4700	NDUFA6	ORPHA:2609
HP:0001507	Growth abnormality	4700	NDUFA6	OMIM:618253
HP:0001507	Growth abnormality	4536	MT-ND2	ORPHA:2609
HP:0001507	Growth abnormality	4715	NDUFB9	ORPHA:2609
HP:0001507	Growth abnormality	5723	PSPH	OMIM:614023
HP:0001507	Growth abnormality	201595	STT3B	OMIM:615597
HP:0001507	Growth abnormality	201595	STT3B	ORPHA:370924
HP:0001507	Growth abnormality	55627	SMPD4	OMIM:618622
HP:0001507	Growth abnormality	617	BCS1L	OMIM:603358
HP:0001507	Growth abnormality	617	BCS1L	ORPHA:53693
HP:0001507	Growth abnormality	3508	IGHMBP2	OMIM:604320
HP:0001507	Growth abnormality	9692	PRORP	OMIM:619737
HP:0001507	Growth abnormality	5155	PDGFB	ORPHA:1980
HP:0001507	Growth abnormality	9213	XPR1	ORPHA:1980
HP:0001507	Growth abnormality	57462	MYORG	ORPHA:1980
HP:0001507	Growth abnormality	6575	SLC20A2	ORPHA:1980
HP:0001507	Growth abnormality	58494	JAM2	ORPHA:1980
HP:0001507	Growth abnormality	23184	MESD	OMIM:618644
HP:0001507	Growth abnormality	5566	PRKACA	ORPHA:289
HP:0001507	Growth abnormality	5567	PRKACB	ORPHA:289
HP:0001507	Growth abnormality	2121	EVC	ORPHA:289
HP:0001507	Growth abnormality	132884	EVC2	ORPHA:289
HP:0001507	Growth abnormality	7469	NELFA	ORPHA:280
HP:0001507	Growth abnormality	22872	SEC31A	OMIM:618651
HP:0001507	Growth abnormality	7386	UQCRFS1	OMIM:618775
HP:0001507	Growth abnormality	5528	PPP2R5D	OMIM:616355
HP:0001507	Growth abnormality	4174	MCM5	OMIM:617564
HP:0001507	Growth abnormality	8241	RBM10	OMIM:311900
HP:0001507	Growth abnormality	8241	RBM10	ORPHA:2886
HP:0001507	Growth abnormality	54914	FOCAD	OMIM:619991
HP:0001507	Growth abnormality	93986	FOXP2	ORPHA:251061
HP:0001507	Growth abnormality	3800	KIF5C	OMIM:615282
HP:0001507	Growth abnormality	51163	DBR1	OMIM:620510
HP:0001507	Growth abnormality	51163	DBR1	OMIM:619441
HP:0001507	Growth abnormality	10516	FBLN5	ORPHA:90348
HP:0001507	Growth abnormality	10516	FBLN5	ORPHA:90349
HP:0001507	Growth abnormality	30008	EFEMP2	ORPHA:90349
HP:0001507	Growth abnormality	4733	DRG1	OMIM:620641
HP:0001507	Growth abnormality	6897	TARS1	ORPHA:33364
HP:0001507	Growth abnormality	79087	ALG12	ORPHA:79324
HP:0001507	Growth abnormality	79053	ALG8	ORPHA:79325
HP:0001507	Growth abnormality	79053	ALG8	OMIM:608104
HP:0001507	Growth abnormality	54101	RIPK4	OMIM:263650
HP:0001507	Growth abnormality	51117	COQ4	OMIM:616276
HP:0001507	Growth abnormality	133686	NADK2	OMIM:616034
HP:0001507	Growth abnormality	29968	PSAT1	OMIM:616038
HP:0001507	Growth abnormality	29968	PSAT1	ORPHA:284417
HP:0001507	Growth abnormality	9900	SV2A	OMIM:620772
HP:0001507	Growth abnormality	3767	KCNJ11	ORPHA:552
HP:0001507	Growth abnormality	3767	KCNJ11	ORPHA:99885
HP:0001507	Growth abnormality	3767	KCNJ11	ORPHA:99886
HP:0001507	Growth abnormality	8462	KLF11	ORPHA:552
HP:0001507	Growth abnormality	2645	GCK	ORPHA:552
HP:0001507	Growth abnormality	2645	GCK	ORPHA:99885
HP:0001507	Growth abnormality	2645	GCK	OMIM:606176
HP:0001507	Growth abnormality	26060	APPL1	ORPHA:552
HP:0001507	Growth abnormality	640	BLK	ORPHA:552
HP:0001507	Growth abnormality	1056	CEL	ORPHA:552
HP:0001507	Growth abnormality	4760	NEUROD1	ORPHA:552
HP:0001507	Growth abnormality	6833	ABCC8	ORPHA:552
HP:0001507	Growth abnormality	6833	ABCC8	ORPHA:99885
HP:0001507	Growth abnormality	6833	ABCC8	ORPHA:99886
HP:0001507	Growth abnormality	5078	PAX4	ORPHA:552
HP:0001507	Growth abnormality	6927	HNF1A	ORPHA:552
HP:0001507	Growth abnormality	3630	INS	ORPHA:552
HP:0001507	Growth abnormality	3630	INS	ORPHA:99885
HP:0001507	Growth abnormality	3630	INS	OMIM:613370
HP:0001507	Growth abnormality	54973	INTS11	OMIM:620428
HP:0001507	Growth abnormality	85476	GFM1	OMIM:609060
HP:0001507	Growth abnormality	2355	FOSL2	OMIM:620789
HP:0001507	Growth abnormality	10102	TSFM	OMIM:610505
HP:0001507	Growth abnormality	2627	GATA6	OMIM:600001
HP:0001507	Growth abnormality	2627	GATA6	ORPHA:2255
HP:0001507	Growth abnormality	2627	GATA6	ORPHA:3303
HP:0001507	Growth abnormality	91754	NEK9	OMIM:617022
HP:0001507	Growth abnormality	23395	LARS2	OMIM:617021
HP:0001507	Growth abnormality	5649	RELN	ORPHA:89844
HP:0001507	Growth abnormality	10300	KATNB1	ORPHA:89844
HP:0001507	Growth abnormality	346171	ZFP57	ORPHA:99886
HP:0001507	Growth abnormality	346171	ZFP57	OMIM:601410
HP:0001507	Growth abnormality	57061	HYMAI	ORPHA:99886
HP:0001507	Growth abnormality	57061	HYMAI	ORPHA:96191
HP:0001507	Growth abnormality	57061	HYMAI	OMIM:601410
HP:0001507	Growth abnormality	5325	PLAGL1	ORPHA:99886
HP:0001507	Growth abnormality	5325	PLAGL1	ORPHA:96191
HP:0001507	Growth abnormality	79068	FTO	OMIM:612938
HP:0001507	Growth abnormality	84340	GFM2	ORPHA:565624
HP:0001507	Growth abnormality	84340	GFM2	OMIM:618397
HP:0001507	Growth abnormality	63925	ZNF335	OMIM:615095
HP:0001507	Growth abnormality	7019	TFAM	OMIM:617156
HP:0001507	Growth abnormality	4705	NDUFA10	OMIM:618243
HP:0001507	Growth abnormality	11080	DNAJB4	OMIM:620326
HP:0001507	Growth abnormality	400569	MED11	OMIM:620327
HP:0001507	Growth abnormality	3183	HNRNPC	OMIM:620688
HP:0001507	Growth abnormality	7703	PCGF2	OMIM:618371
HP:0001507	Growth abnormality	6045	RNF2	OMIM:619460
HP:0001507	Growth abnormality	84705	GTPBP3	OMIM:616198
HP:0001507	Growth abnormality	6304	SATB1	OMIM:619229
HP:0001507	Growth abnormality	91039	DPP9	OMIM:620331
HP:0001507	Growth abnormality	55605	KIF21A	ORPHA:994
HP:0001507	Growth abnormality	4927	NUP88	ORPHA:994
HP:0001507	Growth abnormality	7846	TUBA1A	ORPHA:994
HP:0001507	Growth abnormality	4654	MYOD1	ORPHA:994
HP:0001507	Growth abnormality	4593	MUSK	ORPHA:994
HP:0001507	Growth abnormality	4593	MUSK	OMIM:208150
HP:0001507	Growth abnormality	5913	RAPSN	ORPHA:994
HP:0001507	Growth abnormality	6572	SLC18A3	ORPHA:994
HP:0001507	Growth abnormality	285489	DOK7	ORPHA:994
HP:0001507	Growth abnormality	51241	COX16	OMIM:619355
HP:0001507	Growth abnormality	348180	CTU2	OMIM:618142
HP:0001507	Growth abnormality	10134	BCAP31	ORPHA:369942
HP:0001507	Growth abnormality	10134	BCAP31	OMIM:300475
HP:0001507	Growth abnormality	10134	BCAP31	ORPHA:369939
HP:0001507	Growth abnormality	2222	FDFT1	OMIM:618156
HP:0001507	Growth abnormality	6872	TAF1	OMIM:300966
HP:0001507	Growth abnormality	90522	YIF1B	OMIM:619125
HP:0001507	Growth abnormality	60558	GUF1	OMIM:617065
HP:0001507	Growth abnormality	374879	ZNF699	OMIM:619488
HP:0001507	Growth abnormality	55640	FLVCR2	OMIM:225790
HP:0001507	Growth abnormality	7284	TUFM	OMIM:610678
HP:0001507	Growth abnormality	55252	ASXL2	OMIM:617190
HP:0001507	Growth abnormality	342035	GLDN	OMIM:617194
HP:0001507	Growth abnormality	5297	PI4KA	ORPHA:436252
HP:0001507	Growth abnormality	5297	PI4KA	ORPHA:98889
HP:0001507	Growth abnormality	57217	TTC7A	ORPHA:436252
HP:0001507	Growth abnormality	57217	TTC7A	OMIM:243150
HP:0001507	Growth abnormality	5557	PRIM1	OMIM:620005
HP:0001507	Growth abnormality	25913	POT1	OMIM:620368
HP:0001507	Growth abnormality	219844	HYLS1	OMIM:236680
HP:0001507	Growth abnormality	267	AMFR	OMIM:620379
HP:0001507	Growth abnormality	4713	NDUFB7	OMIM:620135
HP:0001507	Growth abnormality	64858	DCLRE1B	OMIM:620133
HP:0001507	Growth abnormality	4067	LYN	OMIM:620376
HP:0001507	Growth abnormality	168667	BMPER	OMIM:608022
HP:0001507	Growth abnormality	137814	NKX2-6	ORPHA:3384
HP:0001507	Growth abnormality	137814	NKX2-6	ORPHA:3303
HP:0001507	Growth abnormality	23129	PLXND1	ORPHA:3384
HP:0001507	Growth abnormality	23129	PLXND1	OMIM:620294
HP:0001507	Growth abnormality	6309	SC5D	ORPHA:46059
HP:0001507	Growth abnormality	1832	DSP	ORPHA:158687
HP:0001507	Growth abnormality	3728	JUP	ORPHA:158687
HP:0001507	Growth abnormality	5393	EXOSC9	OMIM:618065
HP:0001507	Growth abnormality	25821	MTO1	OMIM:614702
HP:0001507	Growth abnormality	9690	UBE3C	OMIM:620270
HP:0001507	Growth abnormality	6341	SCO1	OMIM:619048
HP:0001507	Growth abnormality	4552	MTRR	ORPHA:2169
HP:0001507	Growth abnormality	1353	COX11	OMIM:620275
HP:0001507	Growth abnormality	1340	COX6B1	OMIM:619051
HP:0001507	Growth abnormality	100131801	PET100	OMIM:619055
HP:0001507	Growth abnormality	274	BIN1	OMIM:255200
HP:0001507	Growth abnormality	5313	PKLR	OMIM:266200
HP:0001507	Growth abnormality	222663	SCUBE3	OMIM:619184
HP:0001507	Growth abnormality	84300	UQCC2	OMIM:615824
HP:0001507	Growth abnormality	4524	MTHFR	ORPHA:563609
HP:0001507	Growth abnormality	57216	VANGL2	ORPHA:563609
HP:0001507	Growth abnormality	81788	NUAK2	ORPHA:563609
HP:0001507	Growth abnormality	2615	LRRC32	OMIM:619074
HP:0001507	Growth abnormality	222546	RFX6	OMIM:615710
HP:0001507	Growth abnormality	2321	FLT1	ORPHA:275555
HP:0001507	Growth abnormality	219736	STOX1	ORPHA:275555
HP:0001507	Growth abnormality	10699	CORIN	ORPHA:275555
HP:0001507	Growth abnormality	9289	ADGRG1	ORPHA:98889
HP:0001507	Growth abnormality	27286	SRPX2	ORPHA:98889
HP:0001507	Growth abnormality	57459	GATAD2B	ORPHA:363686
HP:0001507	Growth abnormality	5591	PRKDC	OMIM:615966
HP:0001507	Growth abnormality	3911	LAMA5	OMIM:620076
HP:0001507	Growth abnormality	4846	NOS3	OMIM:189800
HP:0001507	Growth abnormality	7477	WNT7B	ORPHA:2470
HP:0001507	Growth abnormality	5915	RARB	ORPHA:2470
HP:0001507	Growth abnormality	55835	CPAP	OMIM:613676
HP:0001507	Growth abnormality	57017	COQ9	OMIM:614654
HP:0001507	Growth abnormality	1134	CHRNA1	OMIM:253290
HP:0001507	Growth abnormality	1144	CHRND	OMIM:253290
HP:0001507	Growth abnormality	6888	TALDO1	OMIM:606003
HP:0001507	Growth abnormality	56052	ALG1	OMIM:608540
HP:0001507	Growth abnormality	6005	RHAG	ORPHA:71275
HP:0001507	Growth abnormality	6006	RHCE	ORPHA:71275
HP:0001507	Growth abnormality	6007	RHD	ORPHA:71275
HP:0001507	Growth abnormality	27238	GPKOW	ORPHA:2570
HP:0001507	Growth abnormality	2702	GJA5	ORPHA:3303
HP:0001507	Growth abnormality	3791	KDR	ORPHA:3303
HP:0001507	Growth abnormality	2657	GDF1	ORPHA:3303
HP:0001507	Growth abnormality	182	JAG1	ORPHA:3303
HP:0001507	Growth abnormality	140628	GATA5	ORPHA:3303
HP:0001507	Growth abnormality	2324	FLT4	ORPHA:3303
HP:0001507	Growth abnormality	10370	CITED2	ORPHA:3303
HP:0001507	Growth abnormality	10229	COQ7	OMIM:616733
HP:0001507	Growth abnormality	169792	GLIS3	OMIM:610199
HP:0001507	Growth abnormality	23511	NUP188	OMIM:618804
HP:0001507	Growth abnormality	3796	KIF2A	OMIM:615411
HP:0001507	Growth abnormality	57211	ADGRG6	OMIM:616503
HP:0001507	Growth abnormality	708	C1QBP	OMIM:617713
HP:0001507	Growth abnormality	5160	PDHA1	ORPHA:79243
HP:0001507	Growth abnormality	84342	COG8	OMIM:611182
HP:0001507	Growth abnormality	8985	PLOD3	OMIM:612394
HP:0001507	Growth abnormality	9997	SCO2	OMIM:604377
HP:0001507	Growth abnormality	3704	ITPA	OMIM:616647
HP:0001507	Growth abnormality	4796	TONSL	ORPHA:93357
HP:0001507	Growth abnormality	5162	PDHB	ORPHA:255138
HP:0001507	Growth abnormality	60528	ELAC2	OMIM:615440
HP:0001507	Growth abnormality	55278	QRSL1	OMIM:618835
HP:0001507	Growth abnormality	6911	TBX6	ORPHA:1797
HP:0001507	Growth abnormality	202018	TAPT1	OMIM:616897
HP:0001507	Growth abnormality	28957	MRPS28	OMIM:618958
HP:0001507	Growth abnormality	5188	GATB	OMIM:618838
HP:0001507	Growth abnormality	55164	SHQ1	OMIM:619922
HP:0001507	Growth abnormality	283459	GATC	OMIM:618839
HP:0001507	Growth abnormality	5879	RAC1	OMIM:617751
HP:0001507	Growth abnormality	440	ASNS	OMIM:615574
HP:0001507	Growth abnormality	200205	IBA57	OMIM:615330
HP:0001507	Growth abnormality	1663	DDX11	OMIM:613398
HP:0001507	Growth abnormality	119559	SFXN4	OMIM:615578
HP:0001507	Growth abnormality	55733	HHAT	ORPHA:1422
HP:0001507	Growth abnormality	51294	PCDH12	OMIM:251280
HP:0001507	Growth abnormality	29928	TIMM22	OMIM:618851
HP:0001507	Growth abnormality	35	ACADS	ORPHA:26792
HP:0001507	Growth abnormality	2036	EPB41L1	OMIM:614257
HP:0001507	Growth abnormality	11198	SUPT16H	ORPHA:261229
HP:0001507	Growth abnormality	27316	RBMX	OMIM:300238
HP:0001507	Growth abnormality	27316	RBMX	ORPHA:85286
HP:0001507	Growth abnormality	63036	CELA2A	OMIM:618620
HP:0001507	Growth abnormality	11284	PNKP	ORPHA:459033
HP:0001507	Growth abnormality	11284	PNKP	OMIM:616267
HP:0001507	Growth abnormality	10159	ATP6AP2	ORPHA:93952
HP:0001507	Growth abnormality	149775	GNAS-AS1	OMIM:603233
HP:0001507	Growth abnormality	7552	ZNF711	OMIM:300803
HP:0001507	Growth abnormality	55780	ERMARD	ORPHA:75857
HP:0001507	Growth abnormality	3952	LEP	OMIM:614962
HP:0001507	Growth abnormality	3952	LEP	ORPHA:66628
HP:0001507	Growth abnormality	2770	GNAI1	OMIM:619854
HP:0001507	Growth abnormality	79140	CCDC28B	OMIM:209900
HP:0001507	Growth abnormality	1581	CYP7A1	ORPHA:209902
HP:0001507	Growth abnormality	1656	DDX6	OMIM:618653
HP:0001507	Growth abnormality	80208	SPG11	ORPHA:2822
HP:0001507	Growth abnormality	80208	SPG11	OMIM:604360
HP:0001507	Growth abnormality	30011	SH3KBP1	OMIM:300310
HP:0001507	Growth abnormality	57498	KIDINS220	ORPHA:521390
HP:0001507	Growth abnormality	57498	KIDINS220	OMIM:617296
HP:0001507	Growth abnormality	4771	NF2	ORPHA:2495
HP:0001507	Growth abnormality	100134444	KCNJ18	ORPHA:79102
HP:0001507	Growth abnormality	2556	GABRA3	ORPHA:79102
HP:0001507	Growth abnormality	779	CACNA1S	ORPHA:79102
HP:0001507	Growth abnormality	283209	PGM2L1	OMIM:620191
HP:0001507	Growth abnormality	5244	ABCB4	ORPHA:69663
HP:0001507	Growth abnormality	130340	AP1S3	ORPHA:247353
HP:0001507	Growth abnormality	26525	IL36RN	ORPHA:247353
HP:0001507	Growth abnormality	57466	SCAF4	OMIM:620511
HP:0001507	Growth abnormality	4205	MEF2A	OMIM:608320
HP:0001507	Growth abnormality	7030	TFE3	OMIM:301066
HP:0001507	Growth abnormality	27086	FOXP1	OMIM:613670
HP:0001507	Growth abnormality	26047	CNTNAP2	OMIM:610042
HP:0001507	Growth abnormality	26047	CNTNAP2	ORPHA:163681
HP:0001507	Growth abnormality	51322	WAC	ORPHA:466950
HP:0001507	Growth abnormality	2273	FHL1	ORPHA:98863
HP:0001507	Growth abnormality	2010	EMD	ORPHA:98863
HP:0001507	Growth abnormality	23590	PDSS1	OMIM:614651
HP:0001507	Growth abnormality	1642	DDB1	OMIM:619426
HP:0001507	Growth abnormality	79188	TMEM43	ORPHA:98853
HP:0001507	Growth abnormality	23224	SYNE2	ORPHA:98853
HP:0001507	Growth abnormality	55217	TMLHE	OMIM:300872
HP:0001507	Growth abnormality	3290	HSD11B1	OMIM:614662
HP:0001507	Growth abnormality	84320	ACBD6	OMIM:620785
HP:0001507	Growth abnormality	5575	PRKAR1B	OMIM:619680
HP:0001507	Growth abnormality	348	APOE	ORPHA:412
HP:0001507	Growth abnormality	7275	TUB	OMIM:616188
HP:0001507	Growth abnormality	291	SLC25A4	OMIM:615418
HP:0001507	Growth abnormality	83696	TRAPPC9	ORPHA:352530
HP:0001507	Growth abnormality	9563	H6PD	OMIM:604931
HP:0001507	Growth abnormality	155	ADRB3	OMIM:601665
HP:0001507	Growth abnormality	7352	UCP3	OMIM:601665
HP:0001507	Growth abnormality	8431	NR0B2	OMIM:601665
HP:0001507	Growth abnormality	9607	CARTPT	OMIM:601665
HP:0001507	Growth abnormality	51738	GHRL	OMIM:601665
HP:0001507	Growth abnormality	9672	SDC3	OMIM:601665
HP:0001507	Growth abnormality	181	AGRP	OMIM:601665
HP:0001507	Growth abnormality	51604	PIGT	ORPHA:369837
HP:0001507	Growth abnormality	91461	PKDCC	OMIM:618821
HP:0001507	Growth abnormality	63932	STEEP1	OMIM:301013
HP:0001507	Growth abnormality	213	ALB	ORPHA:86816
HP:0001507	Growth abnormality	200894	ARL13B	OMIM:612291
HP:0001507	Growth abnormality	51124	IER3IP1	OMIM:614231
HP:0001507	Growth abnormality	1512	CTSH	ORPHA:2073
HP:0001507	Growth abnormality	5032	P2RY11	ORPHA:2073
HP:0001507	Growth abnormality	4340	MOG	ORPHA:2073
HP:0001507	Growth abnormality	4340	MOG	OMIM:614250
HP:0001507	Growth abnormality	3060	HCRT	ORPHA:2073
HP:0001507	Growth abnormality	22891	ZNF365	ORPHA:2073
HP:0001507	Growth abnormality	7292	TNFSF4	ORPHA:2073
HP:0001507	Growth abnormality	9320	TRIP12	OMIM:617752
HP:0001507	Growth abnormality	1315	COPB1	OMIM:619255
HP:0001507	Growth abnormality	37	ACADVL	ORPHA:26793
HP:0001507	Growth abnormality	23102	TBC1D2B	ORPHA:397973
HP:0001507	Growth abnormality	109	ADCY3	OMIM:617885
HP:0001507	Growth abnormality	57194	ATP10A	ORPHA:411515
HP:0001507	Growth abnormality	81555	YIPF5	OMIM:619278
HP:0001507	Growth abnormality	57176	VARS2	OMIM:615917
HP:0001507	Growth abnormality	4487	MSX1	ORPHA:199302
HP:0001507	Growth abnormality	5818	NECTIN1	ORPHA:199302
HP:0001507	Growth abnormality	3664	IRF6	ORPHA:199302
HP:0001507	Growth abnormality	318	NUDT2	OMIM:619844
HP:0001507	Growth abnormality	116228	COX20	OMIM:619054
HP:0001507	Growth abnormality	1272	CNTN1	OMIM:612540
HP:0001507	Growth abnormality	54675	CRLS1	OMIM:620167
HP:0001507	Growth abnormality	51021	MRPS16	OMIM:610498
HP:0001507	Growth abnormality	55621	TRMT1	OMIM:618302
HP:0001507	Growth abnormality	79753	SNIP1	OMIM:614501
HP:0001507	Growth abnormality	7385	UQCRC2	OMIM:615160
HP:0001507	Growth abnormality	2683	B4GALT1	ORPHA:79332
HP:0001507	Growth abnormality	8218	CLTCL1	ORPHA:453510
HP:0001507	Growth abnormality	56160	NSMCE3	OMIM:617241
HP:0001507	Growth abnormality	8322	FZD4	ORPHA:90050
HP:0001507	Growth abnormality	579	NKX3-2	OMIM:613330
HP:0001507	Growth abnormality	4905	NSF	OMIM:619340
HP:0001507	Growth abnormality	10046	MAMLD1	ORPHA:95706
HP:0001507	Growth abnormality	23397	NCAPH	OMIM:617985
HP:0001507	Growth abnormality	5805	PTS	OMIM:261640
HP:0001507	Growth abnormality	51114	ZDHHC9	OMIM:300799
HP:0001507	Growth abnormality	51114	ZDHHC9	ORPHA:776
HP:0001507	Growth abnormality	84627	ZNF469	OMIM:229200
HP:0001507	Growth abnormality	3248	HPGD	OMIM:259100
HP:0001507	Growth abnormality	1742	DLG4	OMIM:618793
HP:0001507	Growth abnormality	2201	FBN2	OMIM:121050
HP:0001507	Growth abnormality	2201	FBN2	ORPHA:115
HP:0001507	Growth abnormality	55033	FKBP14	ORPHA:300179
HP:0001507	Growth abnormality	113189	CHST14	ORPHA:2953
HP:0001507	Growth abnormality	29940	DSE	ORPHA:2953
HP:0001507	Growth abnormality	79576	NKAP	OMIM:301039
HP:0001507	Growth abnormality	4953	ODC1	OMIM:619075
HP:0001507	Growth abnormality	4953	ODC1	ORPHA:544488
HP:0001507	Growth abnormality	64419	MTMR14	ORPHA:169189
HP:0001507	Growth abnormality	4618	MYF6	ORPHA:169189
HP:0001507	Growth abnormality	1785	DNM2	ORPHA:169189
HP:0001507	Growth abnormality	10060	ABCC9	OMIM:239850
HP:0001507	Growth abnormality	288	ANK3	ORPHA:356996
HP:0001507	Growth abnormality	23556	PIGN	OMIM:614080
HP:0001507	Growth abnormality	2475	MTOR	ORPHA:457485
HP:0001507	Growth abnormality	2475	MTOR	OMIM:616638
HP:0001507	Growth abnormality	7351	UCP2	ORPHA:276556
HP:0001507	Growth abnormality	54941	RNF125	OMIM:616260
HP:0001507	Growth abnormality	3784	KCNQ1	OMIM:130650
HP:0001507	Growth abnormality	10984	KCNQ1OT1	OMIM:130650
HP:0001507	Growth abnormality	10984	KCNQ1OT1	ORPHA:2128
HP:0001507	Growth abnormality	208	AKT2	OMIM:240900
HP:0001507	Growth abnormality	208	AKT2	ORPHA:293964
HP:0001507	Growth abnormality	5978	REST	ORPHA:654
HP:0001507	Growth abnormality	10155	TRIM28	ORPHA:654
HP:0001507	Growth abnormality	11281	POU6F2	ORPHA:654
HP:0001507	Growth abnormality	6775	STAT4	ORPHA:85408
HP:0001507	Growth abnormality	3560	IL2RB	ORPHA:85408
HP:0001507	Growth abnormality	79722	ANKRD55	ORPHA:85408
HP:0001507	Growth abnormality	919	CD247	ORPHA:85408
HP:0001507	Growth abnormality	3559	IL2RA	ORPHA:85408
HP:0001507	Growth abnormality	5771	PTPN2	ORPHA:85408
HP:0001507	Growth abnormality	146059	CDAN1	OMIM:224120
HP:0001507	Growth abnormality	9508	ADAMTS3	ORPHA:2136
HP:0001507	Growth abnormality	147372	CCBE1	ORPHA:2136
HP:0001507	Growth abnormality	147372	CCBE1	OMIM:235510
HP:0001507	Growth abnormality	90268	OTULIN	OMIM:617099
HP:0001507	Growth abnormality	5880	RAC2	OMIM:618987
HP:0001507	Growth abnormality	4056	LTC4S	OMIM:614037
HP:0001507	Growth abnormality	1439	CSF2RB	ORPHA:264675
HP:0001507	Growth abnormality	7084	TK2	ORPHA:254875
HP:0001507	Growth abnormality	26007	TKFC	OMIM:618805
HP:0001507	Growth abnormality	3431	SP110	ORPHA:79124
HP:0001507	Growth abnormality	83480	PUS3	ORPHA:488627
HP:0001507	Growth abnormality	9377	COX5A	OMIM:619064
HP:0001507	Growth abnormality	23495	TNFRSF13B	ORPHA:1572
HP:0001507	Growth abnormality	4790	NFKB1	ORPHA:1572
HP:0001507	Growth abnormality	115650	TNFRSF13C	ORPHA:1572
HP:0001507	Growth abnormality	8742	TNFSF12	ORPHA:1572
HP:0001507	Growth abnormality	930	CD19	ORPHA:1572
HP:0001507	Growth abnormality	29851	ICOS	ORPHA:1572
HP:0001507	Growth abnormality	931	MS4A1	ORPHA:1572
HP:0001507	Growth abnormality	975	CD81	ORPHA:1572
HP:0001507	Growth abnormality	368	ABCC6	ORPHA:51608
HP:0001507	Growth abnormality	3032	HADHB	ORPHA:746
HP:0001507	Growth abnormality	8405	SPOP	OMIM:618829
HP:0001507	Growth abnormality	3557	IL1RN	OMIM:612852
HP:0001507	Growth abnormality	1291	COL6A1	OMIM:254090
HP:0001507	Growth abnormality	58	ACTA1	ORPHA:171439
HP:0001507	Growth abnormality	58	ACTA1	OMIM:161800
HP:0001507	Growth abnormality	390594	KBTBD13	ORPHA:171439
HP:0001507	Growth abnormality	4703	NEB	ORPHA:171439
HP:0001507	Growth abnormality	4703	NEB	OMIM:256030
HP:0001507	Growth abnormality	4703	NEB	ORPHA:399103
HP:0001507	Growth abnormality	10324	KLHL41	ORPHA:171439
HP:0001507	Growth abnormality	7170	TPM3	ORPHA:171439
HP:0001507	Growth abnormality	1890	TYMP	OMIM:603041
HP:0001507	Growth abnormality	5428	POLG	OMIM:603041
HP:0001507	Growth abnormality	5428	POLG	OMIM:613662
HP:0001507	Growth abnormality	7138	TNNT1	OMIM:620389
HP:0001507	Growth abnormality	92335	STRADA	OMIM:611087
HP:0001507	Growth abnormality	23152	CIC	OMIM:617600
HP:0001507	Growth abnormality	92609	TIMM50	ORPHA:505216
HP:0001507	Growth abnormality	23405	DICER1	OMIM:618272
HP:0001507	Growth abnormality	5296	PIK3R2	OMIM:603387
HP:0001507	Growth abnormality	54757	FAM20A	OMIM:204690
HP:0001507	Growth abnormality	23229	ARHGEF9	OMIM:300607
HP:0001507	Growth abnormality	139886	SPIN4	OMIM:301114
HP:0001507	Growth abnormality	283450	HECTD4	OMIM:620250
HP:0001507	Growth abnormality	3106	HLA-B	ORPHA:397
HP:0001507	Growth abnormality	3106	HLA-B	ORPHA:117
HP:0001507	Growth abnormality	3106	HLA-B	ORPHA:29207
HP:0001507	Growth abnormality	3106	HLA-B	ORPHA:36426
HP:0001507	Growth abnormality	3106	HLA-B	ORPHA:3287
HP:0001507	Growth abnormality	8974	P4HA2	ORPHA:397
HP:0001507	Growth abnormality	3064	HTT	ORPHA:399
HP:0001507	Growth abnormality	3064	HTT	ORPHA:248111
HP:0001507	Growth abnormality	6515	SLC2A3	ORPHA:399
HP:0001507	Growth abnormality	54790	TET2	ORPHA:98850
HP:0001507	Growth abnormality	54790	TET2	ORPHA:98849
HP:0001507	Growth abnormality	861	RUNX1	ORPHA:98850
HP:0001507	Growth abnormality	6427	SRSF2	ORPHA:98850
HP:0001507	Growth abnormality	6427	SRSF2	ORPHA:98849
HP:0001507	Growth abnormality	3717	JAK2	ORPHA:71493
HP:0001507	Growth abnormality	3717	JAK2	ORPHA:729
HP:0001507	Growth abnormality	3717	JAK2	ORPHA:131
HP:0001507	Growth abnormality	6622	SNCA	OMIM:605543
HP:0001507	Growth abnormality	6622	SNCA	ORPHA:411602
HP:0001507	Growth abnormality	3815	KIT	ORPHA:98849
HP:0001507	Growth abnormality	4292	MLH1	ORPHA:144
HP:0001507	Growth abnormality	5395	PMS2	ORPHA:144
HP:0001507	Growth abnormality	2956	MSH6	ORPHA:144
HP:0001507	Growth abnormality	5378	PMS1	ORPHA:144
HP:0001507	Growth abnormality	4436	MSH2	ORPHA:144
HP:0001507	Growth abnormality	1639	DCTN1	ORPHA:178509
HP:0001507	Growth abnormality	1639	DCTN1	ORPHA:803
HP:0001507	Growth abnormality	1639	DCTN1	OMIM:168605
HP:0001507	Growth abnormality	79577	CDC73	ORPHA:143
HP:0001507	Growth abnormality	2130	EWSR1	ORPHA:83469
HP:0001507	Growth abnormality	64218	SEMA4A	ORPHA:440437
HP:0001507	Growth abnormality	4595	MUTYH	ORPHA:440437
HP:0001507	Growth abnormality	11200	CHEK2	ORPHA:440437
HP:0001507	Growth abnormality	11200	CHEK2	ORPHA:668
HP:0001507	Growth abnormality	9244	CRLF1	ORPHA:930
HP:0001507	Growth abnormality	4842	NOS1	ORPHA:930
HP:0001507	Growth abnormality	3980	LIG3	ORPHA:298
HP:0001507	Growth abnormality	2859	GPR35	ORPHA:171
HP:0001507	Growth abnormality	10507	SEMA4D	ORPHA:171
HP:0001507	Growth abnormality	4485	MST1	ORPHA:171
HP:0001507	Growth abnormality	2034	EPAS1	ORPHA:276621
HP:0001507	Growth abnormality	29967	LRP12	OMIM:164310
HP:0001507	Growth abnormality	29967	LRP12	ORPHA:98897
HP:0001507	Growth abnormality	5621	PRNP	OMIM:600072
HP:0001507	Growth abnormality	5621	PRNP	ORPHA:466
HP:0001507	Growth abnormality	5621	PRNP	ORPHA:157941
HP:0001507	Growth abnormality	5621	PRNP	OMIM:137440
HP:0001507	Growth abnormality	23230	VPS13A	ORPHA:2388
HP:0001507	Growth abnormality	57338	JPH3	ORPHA:98934
HP:0001507	Growth abnormality	57338	JPH3	OMIM:606438
HP:0001507	Growth abnormality	3492	IGH	ORPHA:52416
HP:0001507	Growth abnormality	3492	IGH	ORPHA:52417
HP:0001507	Growth abnormality	3492	IGH	ORPHA:545
HP:0001507	Growth abnormality	330	BIRC3	ORPHA:52417
HP:0001507	Growth abnormality	8915	BCL10	ORPHA:52417
HP:0001507	Growth abnormality	1743	DLST	ORPHA:29072
HP:0001507	Growth abnormality	8402	SLC25A11	ORPHA:29072
HP:0001507	Growth abnormality	54949	SDHAF2	ORPHA:29072
HP:0001507	Growth abnormality	55654	TMEM127	ORPHA:29072
HP:0001507	Growth abnormality	4149	MAX	ORPHA:29072
HP:0001507	Growth abnormality	3115	HLA-DPB1	ORPHA:900
HP:0001507	Growth abnormality	3115	HLA-DPB1	ORPHA:133
HP:0001507	Growth abnormality	5657	PRTN3	ORPHA:900
HP:0001507	Growth abnormality	3113	HLA-DPA1	ORPHA:900
HP:0001507	Growth abnormality	7276	TTR	ORPHA:85447
HP:0001507	Growth abnormality	4665	NAB2	ORPHA:2126
HP:0001507	Growth abnormality	38	ACAT1	ORPHA:134
HP:0001507	Growth abnormality	811	CALR	ORPHA:131
HP:0001507	Growth abnormality	2153	F5	ORPHA:131
HP:0001507	Growth abnormality	11330	CTRC	ORPHA:103918
HP:0001507	Growth abnormality	6690	SPINK1	ORPHA:103918
HP:0001507	Growth abnormality	84868	HAVCR2	ORPHA:86884
HP:0001507	Growth abnormality	654	BMP6	ORPHA:465508
HP:0001507	Growth abnormality	3586	IL10	OMIM:180300
HP:0001507	Growth abnormality	3586	IL10	ORPHA:117
HP:0001507	Growth abnormality	3586	IL10	ORPHA:536
HP:0001507	Growth abnormality	6583	SLC22A4	OMIM:180300
HP:0001507	Growth abnormality	51744	CD244	OMIM:180300
HP:0001507	Growth abnormality	4795	NFKBIL1	OMIM:180300
HP:0001507	Growth abnormality	25978	CHMP2B	ORPHA:803
HP:0001507	Growth abnormality	8148	TAF15	ORPHA:803
HP:0001507	Growth abnormality	5445	PON2	ORPHA:803
HP:0001507	Growth abnormality	9217	VAPB	ORPHA:803
HP:0001507	Growth abnormality	8878	SQSTM1	ORPHA:803
HP:0001507	Growth abnormality	5630	PRPH	ORPHA:803
HP:0001507	Growth abnormality	55830	GLT8D1	ORPHA:803
HP:0001507	Growth abnormality	10891	PPARGC1A	ORPHA:803
HP:0001507	Growth abnormality	6647	SOD1	ORPHA:803
HP:0001507	Growth abnormality	10133	OPTN	ORPHA:803
HP:0001507	Growth abnormality	5444	PON1	ORPHA:803
HP:0001507	Growth abnormality	5446	PON3	ORPHA:803
HP:0001507	Growth abnormality	4744	NEFH	ORPHA:803
HP:0001507	Growth abnormality	5216	PFN1	ORPHA:803
HP:0001507	Growth abnormality	9782	MATR3	ORPHA:803
HP:0001507	Growth abnormality	54209	TREM2	ORPHA:803
HP:0001507	Growth abnormality	283	ANG	ORPHA:803
HP:0001507	Growth abnormality	23435	TARDBP	ORPHA:803
HP:0001507	Growth abnormality	29978	UBQLN2	ORPHA:803
HP:0001507	Growth abnormality	2521	FUS	ORPHA:803
HP:0001507	Growth abnormality	6311	ATXN2	ORPHA:803
HP:0001507	Growth abnormality	1610	DAO	ORPHA:803
HP:0001507	Growth abnormality	2066	ERBB4	ORPHA:803
HP:0001507	Growth abnormality	311	ANXA11	ORPHA:803
HP:0001507	Growth abnormality	23025	UNC13A	ORPHA:803
HP:0001507	Growth abnormality	899	CCNF	ORPHA:803
HP:0001507	Growth abnormality	2000	ELF4	OMIM:301074
HP:0001507	Growth abnormality	10568	SLC34A2	ORPHA:60025
HP:0001507	Growth abnormality	80025	PANK2	ORPHA:216866
HP:0001507	Growth abnormality	567	B2M	OMIM:620659
HP:0001507	Growth abnormality	940	CD28	ORPHA:2584
HP:0001507	Growth abnormality	7133	TNFRSF1B	ORPHA:2584
HP:0001507	Growth abnormality	149233	IL23R	ORPHA:117
HP:0001507	Growth abnormality	4210	MEFV	ORPHA:117
HP:0001507	Growth abnormality	1230	CCR1	ORPHA:117
HP:0001507	Growth abnormality	3592	IL12A	ORPHA:117
HP:0001507	Growth abnormality	101928376	IL12A-AS1	ORPHA:117
HP:0001507	Growth abnormality	7099	TLR4	ORPHA:117
HP:0001507	Growth abnormality	3459	IFNGR1	ORPHA:117
HP:0001507	Growth abnormality	3459	IFNGR1	OMIM:209950
HP:0001507	Growth abnormality	720	C4A	ORPHA:117
HP:0001507	Growth abnormality	720	C4A	ORPHA:536
HP:0001507	Growth abnormality	337867	UBAC2	ORPHA:117
HP:0001507	Growth abnormality	51752	ERAP1	ORPHA:117
HP:0001507	Growth abnormality	8302	KLRC4	ORPHA:117
HP:0001507	Growth abnormality	3848	KRT1	ORPHA:312
HP:0001507	Growth abnormality	3155	HMGCL	ORPHA:20
HP:0001507	Growth abnormality	596	BCL2	ORPHA:545
HP:0001507	Growth abnormality	604	BCL6	ORPHA:545
HP:0001507	Growth abnormality	2215	FCGR3B	ORPHA:536
HP:0001507	Growth abnormality	3684	ITGAM	ORPHA:536
HP:0001507	Growth abnormality	221895	JAZF1	ORPHA:536
HP:0001507	Growth abnormality	55024	BANK1	ORPHA:536
HP:0001507	Growth abnormality	3500	IGHG1	ORPHA:536
HP:0001507	Growth abnormality	3654	IRAK1	ORPHA:536
HP:0001507	Growth abnormality	1380	CR2	ORPHA:536
HP:0001507	Growth abnormality	5133	PDCD1	ORPHA:536
HP:0001507	Growth abnormality	2113	ETS1	ORPHA:536
HP:0001507	Growth abnormality	2213	FCGR2B	ORPHA:536
HP:0001507	Growth abnormality	10318	TNIP1	ORPHA:536
HP:0001507	Growth abnormality	7332	UBE2L3	ORPHA:536
HP:0001507	Growth abnormality	79932	KIAA0319L	ORPHA:536
HP:0001507	Growth abnormality	3663	IRF5	ORPHA:536
HP:0001507	Growth abnormality	721	C4B	ORPHA:536
HP:0001507	Growth abnormality	1773	DNASE1	ORPHA:536
HP:0001507	Growth abnormality	51284	TLR7	ORPHA:536
HP:0001507	Growth abnormality	6696	SPP1	ORPHA:536
HP:0001507	Growth abnormality	54899	PXK	ORPHA:536
HP:0001507	Growth abnormality	7128	TNFAIP3	ORPHA:536
HP:0001507	Growth abnormality	10320	IKZF1	ORPHA:36426
HP:0001507	Growth abnormality	23317	DNAJC13	ORPHA:411602
HP:0001507	Growth abnormality	1981	EIF4G1	ORPHA:411602
HP:0001507	Growth abnormality	55737	VPS35	ORPHA:411602
HP:0001507	Growth abnormality	120892	LRRK2	ORPHA:411602
HP:0001507	Growth abnormality	26058	GIGYF2	ORPHA:411602
HP:0001507	Growth abnormality	285282	RABL3	ORPHA:1333
HP:0001507	Growth abnormality	23022	PALLD	ORPHA:1333
HP:0001507	Growth abnormality	56244	BTNL2	ORPHA:797
HP:0001507	Growth abnormality	353116	RILPL1	ORPHA:98897
HP:0001507	Growth abnormality	10755	GIPC1	ORPHA:98897
HP:0001507	Growth abnormality	100996717	NOTCH2NLC	ORPHA:98897
HP:0001507	Growth abnormality	79651	RHBDF2	ORPHA:2198
HP:0001507	Growth abnormality	2624	GATA2	ORPHA:228423
HP:0001507	Growth abnormality	3593	IL12B	ORPHA:3287
HP:0001507	Growth abnormality	6945	MLX	ORPHA:3287
HP:0001507	Growth abnormality	6850	SYK	OMIM:619381
HP:0001507	Growth abnormality	5371	PML	ORPHA:520
HP:0001507	Growth abnormality	5914	RARA	ORPHA:520
HP:0001507	Growth abnormality	359948	IRF2BP2	ORPHA:520
HP:0001507	Growth abnormality	81608	FIP1L1	ORPHA:520
HP:0001507	Growth abnormality	64859	NABP1	ORPHA:520
HP:0001507	Growth abnormality	4926	NUMA1	ORPHA:520
HP:0001507	Growth abnormality	7704	ZBTB16	ORPHA:520
HP:0001507	Growth abnormality	238	ALK	ORPHA:635
HP:0001507	Growth abnormality	389421	LIN28B	ORPHA:635
HP:0001507	Growth abnormality	4004	LMO1	ORPHA:635
HP:0001507	Growth abnormality	56623	INPP5E	OMIM:610156
HP:0001507	Growth abnormality	56623	INPP5E	ORPHA:75858
HP:0001507	Growth abnormality	9149	DYRK1B	OMIM:615812
HP:0001507	Growth abnormality	6910	TBX5	OMIM:142900
HP:0001507	Growth abnormality	90416	CCDC32	OMIM:619123
HP:0001507	Growth abnormality	168507	PKD1L1	OMIM:617205
HP:0001507	Growth abnormality	146845	CFAP52	OMIM:619607
HP:0001507	Growth abnormality	72	ACTG2	ORPHA:2604
HP:0001507	Growth abnormality	2302	FOXJ1	OMIM:618699
HP:0001507	Growth abnormality	220136	CFAP53	OMIM:614779
HP:0001507	Growth abnormality	79645	CLXN	OMIM:620642
HP:0001507	Growth abnormality	55997	CFC1	OMIM:605376
HP:0001507	Growth abnormality	164781	DAW1	OMIM:620570
HP:0001507	Growth abnormality	2137	EXTL3	ORPHA:508533
HP:0001507	Growth abnormality	2137	EXTL3	OMIM:617425
HP:0001507	Growth abnormality	2879	GPX4	ORPHA:93317
HP:0001507	Growth abnormality	2879	GPX4	OMIM:250220
HP:0001507	Growth abnormality	65992	DDRGK1	ORPHA:93352
HP:0001507	Growth abnormality	29071	C1GALT1C1	OMIM:301110
HP:0001507	Growth abnormality	1311	COMP	ORPHA:93308
HP:0001507	Growth abnormality	26523	AGO1	OMIM:620292
HP:0001507	Growth abnormality	1795	DOCK3	OMIM:618292
HP:0001507	Growth abnormality	50515	CHST11	OMIM:618167
HP:0001507	Growth abnormality	6340	SCNN1G	ORPHA:171876
HP:0001507	Growth abnormality	6337	SCNN1A	ORPHA:171876
HP:0001507	Growth abnormality	6338	SCNN1B	ORPHA:171876
HP:0001507	Growth abnormality	7086	TKT	OMIM:617044
HP:0001507	Growth abnormality	7086	TKT	ORPHA:488618
HP:0001507	Growth abnormality	64221	ROBO3	ORPHA:2744
HP:0001507	Growth abnormality	84181	CHD6	ORPHA:2108
HP:0001507	Growth abnormality	286053	NSMCE2	OMIM:617253
HP:0001507	Growth abnormality	3313	HSPA9	OMIM:616854
HP:0001507	Growth abnormality	5476	CTSA	OMIM:256540
HP:0001507	Growth abnormality	23250	ATP11A	OMIM:619851
HP:0001507	Growth abnormality	5191	PEX7	OMIM:215100
HP:0001507	Growth abnormality	26175	LYSET	OMIM:619345
HP:0001507	Growth abnormality	64841	GNPNAT1	OMIM:619598
HP:0001507	Growth abnormality	2692	GHRHR	OMIM:618157
HP:0001507	Growth abnormality	3832	KIF11	ORPHA:2526
HP:0001507	Growth abnormality	166929	SGMS2	OMIM:126550
HP:0001507	Growth abnormality	1749	DLX5	OMIM:220600
HP:0001507	Growth abnormality	25871	NEPRO	OMIM:618853
HP:0001507	Growth abnormality	4534	MTM1	OMIM:310400
HP:0001507	Growth abnormality	153642	ARSK	OMIM:619698
HP:0001507	Growth abnormality	2588	GALNS	OMIM:253000
HP:0001507	Growth abnormality	2100	ESR2	OMIM:618187
HP:0001507	Growth abnormality	23394	ADNP	ORPHA:404448
HP:0001507	Growth abnormality	23394	ADNP	OMIM:615873
HP:0001507	Growth abnormality	1139	CHRNA7	ORPHA:199318
HP:0001507	Growth abnormality	8216	LZTR1	OMIM:616564
HP:0001507	Growth abnormality	8216	LZTR1	ORPHA:648
HP:0001507	Growth abnormality	8216	LZTR1	OMIM:605275
HP:0001507	Growth abnormality	6228	RPS23	OMIM:617412
HP:0001507	Growth abnormality	6729	SRP54	OMIM:618752
HP:0001507	Growth abnormality	6729	SRP54	OMIM:260400
HP:0001507	Growth abnormality	166378	AFG2A	OMIM:616577
HP:0001507	Growth abnormality	1161	ERCC8	OMIM:216400
HP:0001507	Growth abnormality	1513	CTSK	OMIM:265800
HP:0001507	Growth abnormality	54453	RIN2	OMIM:613075
HP:0001507	Growth abnormality	7436	VLDLR	OMIM:224050
HP:0001507	Growth abnormality	7436	VLDLR	ORPHA:1766
HP:0001507	Growth abnormality	54543	TOMM7	OMIM:620601
HP:0001507	Growth abnormality	51109	RDH11	OMIM:616108
HP:0001507	Growth abnormality	51109	RDH11	ORPHA:436245
HP:0001507	Growth abnormality	171023	ASXL1	ORPHA:97297
HP:0001507	Growth abnormality	171023	ASXL1	OMIM:605039
HP:0001507	Growth abnormality	23312	DMXL2	OMIM:616113
HP:0001507	Growth abnormality	8036	SHOC2	ORPHA:2701
HP:0001507	Growth abnormality	8036	SHOC2	OMIM:607721
HP:0001507	Growth abnormality	5500	PPP1CB	ORPHA:2701
HP:0001507	Growth abnormality	5500	PPP1CB	OMIM:617506
HP:0001507	Growth abnormality	4247	MGAT2	OMIM:212066
HP:0001507	Growth abnormality	54	ACP5	ORPHA:1855
HP:0001507	Growth abnormality	54	ACP5	OMIM:607944
HP:0001507	Growth abnormality	55131	RBM28	ORPHA:157954
HP:0001507	Growth abnormality	55131	RBM28	OMIM:612079
HP:0001507	Growth abnormality	79659	DYNC2H1	OMIM:613091
HP:0001507	Growth abnormality	79659	DYNC2H1	ORPHA:474
HP:0001507	Growth abnormality	8493	PPM1D	OMIM:617450
HP:0001507	Growth abnormality	5034	P4HB	OMIM:112240
HP:0001507	Growth abnormality	5034	P4HB	ORPHA:2050
HP:0001507	Growth abnormality	51633	OTUD6B	OMIM:617452
HP:0001507	Growth abnormality	51633	OTUD6B	ORPHA:505237
HP:0001507	Growth abnormality	9354	UBE4A	OMIM:619639
HP:0001507	Growth abnormality	5593	PRKG2	OMIM:619636
HP:0001507	Growth abnormality	79718	TBL1XR1	OMIM:602342
HP:0001507	Growth abnormality	5605	MAP2K2	OMIM:615280
HP:0001507	Growth abnormality	5605	MAP2K2	ORPHA:638
HP:0001507	Growth abnormality	5605	MAP2K2	ORPHA:1340
HP:0001507	Growth abnormality	54828	BCAS3	OMIM:619641
HP:0001507	Growth abnormality	113179	ADAT3	OMIM:615286
HP:0001507	Growth abnormality	113179	ADAT3	ORPHA:363528
HP:0001507	Growth abnormality	23187	PHLDB1	OMIM:620639
HP:0001507	Growth abnormality	79971	WLS	OMIM:619648
HP:0001507	Growth abnormality	3373	HYAL1	OMIM:601492
HP:0001507	Growth abnormality	3373	HYAL1	ORPHA:67041
HP:0001507	Growth abnormality	25836	NIPBL	OMIM:122470
HP:0001507	Growth abnormality	25836	NIPBL	ORPHA:199
HP:0001507	Growth abnormality	23499	MACF1	OMIM:618325
HP:0001507	Growth abnormality	100151683	RNU4ATAC	ORPHA:1824
HP:0001507	Growth abnormality	100151683	RNU4ATAC	ORPHA:353298
HP:0001507	Growth abnormality	100151683	RNU4ATAC	OMIM:226960
HP:0001507	Growth abnormality	100151683	RNU4ATAC	OMIM:616651
HP:0001507	Growth abnormality	178	AGL	ORPHA:366
HP:0001507	Growth abnormality	178	AGL	OMIM:232400
HP:0001507	Growth abnormality	1523	CUX1	OMIM:618330
HP:0001507	Growth abnormality	5908	RAP1B	OMIM:620654
HP:0001507	Growth abnormality	5910	RAP1GDS1	OMIM:620655
HP:0001507	Growth abnormality	7873	MANF	OMIM:620651
HP:0001507	Growth abnormality	64132	XYLT2	OMIM:605822
HP:0001507	Growth abnormality	64132	XYLT2	ORPHA:85194
HP:0001507	Growth abnormality	7291	TWIST1	ORPHA:794
HP:0001507	Growth abnormality	7291	TWIST1	OMIM:101400
HP:0001507	Growth abnormality	3479	IGF1	ORPHA:73272
HP:0001507	Growth abnormality	3479	IGF1	OMIM:608747
HP:0001507	Growth abnormality	57190	SELENON	ORPHA:324604
HP:0001507	Growth abnormality	57190	SELENON	OMIM:602771
HP:0001507	Growth abnormality	4625	MYH7	ORPHA:324604
HP:0001507	Growth abnormality	4625	MYH7	OMIM:255160
HP:0001507	Growth abnormality	7273	TTN	ORPHA:324604
HP:0001507	Growth abnormality	54517	PUS7	OMIM:618342
HP:0001507	Growth abnormality	8573	CASK	OMIM:300749
HP:0001507	Growth abnormality	57122	NUP107	OMIM:618348
HP:0001507	Growth abnormality	57122	NUP107	ORPHA:243
HP:0001507	Growth abnormality	57122	NUP107	ORPHA:2065
HP:0001507	Growth abnormality	90459	ERI1	OMIM:620663
HP:0001507	Growth abnormality	100033413	SNORD116-1	OMIM:176270
HP:0001507	Growth abnormality	8924	HERC2	OMIM:176270
HP:0001507	Growth abnormality	23742	NPAP1	OMIM:176270
HP:0001507	Growth abnormality	338433	SNORD115-1	OMIM:176270
HP:0001507	Growth abnormality	54551	MAGEL2	OMIM:176270
HP:0001507	Growth abnormality	54551	MAGEL2	ORPHA:398069
HP:0001507	Growth abnormality	54551	MAGEL2	ORPHA:177904
HP:0001507	Growth abnormality	54551	MAGEL2	ORPHA:177901
HP:0001507	Growth abnormality	54551	MAGEL2	ORPHA:177910
HP:0001507	Growth abnormality	54551	MAGEL2	OMIM:615547
HP:0001507	Growth abnormality	54551	MAGEL2	ORPHA:98754
HP:0001507	Growth abnormality	7681	MKRN3	OMIM:176270
HP:0001507	Growth abnormality	145624	PWAR1	OMIM:176270
HP:0001507	Growth abnormality	3653	IPW	OMIM:176270
HP:0001507	Growth abnormality	791114	PWRN1	OMIM:176270
HP:0001507	Growth abnormality	27125	AFF4	ORPHA:444077
HP:0001507	Growth abnormality	27125	AFF4	OMIM:616368
HP:0001507	Growth abnormality	55630	SLC39A4	ORPHA:37
HP:0001507	Growth abnormality	55630	SLC39A4	OMIM:201100
HP:0001507	Growth abnormality	55315	SLC29A3	OMIM:602782
HP:0001507	Growth abnormality	55315	SLC29A3	ORPHA:168569
HP:0001507	Growth abnormality	55315	SLC29A3	ORPHA:1782
HP:0001507	Growth abnormality	10733	PLK4	OMIM:616171
HP:0001507	Growth abnormality	10733	PLK4	ORPHA:808
HP:0001507	Growth abnormality	10733	PLK4	ORPHA:2518
HP:0001507	Growth abnormality	4967	OGDH	ORPHA:31
HP:0001507	Growth abnormality	11277	TREX1	OMIM:225750
HP:0001507	Growth abnormality	11277	TREX1	ORPHA:51
HP:0001507	Growth abnormality	25885	POLR1A	OMIM:620675
HP:0001507	Growth abnormality	25885	POLR1A	OMIM:616462
HP:0001507	Growth abnormality	25885	POLR1A	ORPHA:1200
HP:0001507	Growth abnormality	1297	COL9A1	ORPHA:166002
HP:0001507	Growth abnormality	1297	COL9A1	ORPHA:250984
HP:0001507	Growth abnormality	1297	COL9A1	OMIM:614134
HP:0001507	Growth abnormality	1298	COL9A2	ORPHA:166002
HP:0001507	Growth abnormality	1298	COL9A2	OMIM:614284
HP:0001507	Growth abnormality	1298	COL9A2	ORPHA:250984
HP:0001507	Growth abnormality	1299	COL9A3	ORPHA:166002
HP:0001507	Growth abnormality	1299	COL9A3	ORPHA:250984
HP:0001507	Growth abnormality	1281	COL3A1	OMIM:130050
HP:0001507	Growth abnormality	1281	COL3A1	ORPHA:286
HP:0001507	Growth abnormality	1281	COL3A1	ORPHA:2500
HP:0001507	Growth abnormality	427	ASAH1	ORPHA:333
HP:0001507	Growth abnormality	254394	MCM9	OMIM:616185
HP:0001507	Growth abnormality	10588	MTHFS	OMIM:618367
HP:0001507	Growth abnormality	22930	RAB3GAP1	OMIM:600118
HP:0001507	Growth abnormality	22930	RAB3GAP1	OMIM:619420
HP:0001507	Growth abnormality	22930	RAB3GAP1	ORPHA:2510
HP:0001507	Growth abnormality	22930	RAB3GAP1	ORPHA:1387
HP:0001507	Growth abnormality	3549	IHH	ORPHA:63446
HP:0001507	Growth abnormality	3549	IHH	OMIM:112500
HP:0001507	Growth abnormality	3549	IHH	ORPHA:93388
HP:0001507	Growth abnormality	3549	IHH	OMIM:607778
HP:0001507	Growth abnormality	2334	AFF2	OMIM:309548
HP:0001507	Growth abnormality	2334	AFF2	ORPHA:100973
HP:0001507	Growth abnormality	84068	SLC10A7	OMIM:618363
HP:0001507	Growth abnormality	8200	GDF5	ORPHA:63442
HP:0001507	Growth abnormality	8200	GDF5	OMIM:113100
HP:0001507	Growth abnormality	8200	GDF5	ORPHA:93384
HP:0001507	Growth abnormality	8200	GDF5	ORPHA:93388
HP:0001507	Growth abnormality	8200	GDF5	OMIM:615072
HP:0001507	Growth abnormality	8200	GDF5	ORPHA:2639
HP:0001507	Growth abnormality	50945	TBX22	OMIM:302905
HP:0001507	Growth abnormality	50945	TBX22	ORPHA:921
HP:0001507	Growth abnormality	3054	HCFC1	OMIM:309541
HP:0001507	Growth abnormality	201163	FLCN	OMIM:610883
HP:0001507	Growth abnormality	2717	GLA	ORPHA:324
HP:0001507	Growth abnormality	25778	DSTYK	ORPHA:101003
HP:0001507	Growth abnormality	5611	DNAJC3	OMIM:616192
HP:0001507	Growth abnormality	5611	DNAJC3	ORPHA:445062
HP:0001507	Growth abnormality	51729	WBP11	OMIM:619227
HP:0001507	Growth abnormality	2697	GJA1	ORPHA:317
HP:0001507	Growth abnormality	2697	GJA1	OMIM:257850
HP:0001507	Growth abnormality	2707	GJB3	ORPHA:317
HP:0001507	Growth abnormality	2531	KDSR	ORPHA:317
HP:0001507	Growth abnormality	127534	GJB4	ORPHA:317
HP:0001507	Growth abnormality	8883	NAE1	OMIM:620210
HP:0001507	Growth abnormality	4763	NF1	ORPHA:97685
HP:0001507	Growth abnormality	4763	NF1	OMIM:193520
HP:0001507	Growth abnormality	4763	NF1	OMIM:601321
HP:0001507	Growth abnormality	4763	NF1	ORPHA:638
HP:0001507	Growth abnormality	4763	NF1	ORPHA:139474
HP:0001507	Growth abnormality	4763	NF1	ORPHA:363700
HP:0001507	Growth abnormality	4763	NF1	OMIM:162200
HP:0001507	Growth abnormality	151516	ASPRV1	ORPHA:313
HP:0001507	Growth abnormality	126410	CYP4F22	ORPHA:313
HP:0001507	Growth abnormality	6820	SULT2B1	ORPHA:313
HP:0001507	Growth abnormality	6820	SULT2B1	ORPHA:79394
HP:0001507	Growth abnormality	26154	ABCA12	ORPHA:313
HP:0001507	Growth abnormality	26154	ABCA12	ORPHA:79394
HP:0001507	Growth abnormality	643418	LIPN	ORPHA:313
HP:0001507	Growth abnormality	348938	NIPAL4	ORPHA:313
HP:0001507	Growth abnormality	348938	NIPAL4	ORPHA:79394
HP:0001507	Growth abnormality	121214	SDR9C7	ORPHA:313
HP:0001507	Growth abnormality	121214	SDR9C7	ORPHA:79394
HP:0001507	Growth abnormality	7051	TGM1	ORPHA:313
HP:0001507	Growth abnormality	7051	TGM1	ORPHA:79394
HP:0001507	Growth abnormality	9757	KMT2B	ORPHA:589618
HP:0001507	Growth abnormality	9757	KMT2B	OMIM:617284
HP:0001507	Growth abnormality	54809	SAMD9	OMIM:617053
HP:0001507	Growth abnormality	29927	SEC61A1	OMIM:617056
HP:0001507	Growth abnormality	92002	CCNQ	OMIM:300707
HP:0001507	Growth abnormality	92002	CCNQ	ORPHA:140952
HP:0001507	Growth abnormality	1041	CDSN	OMIM:270300
HP:0001507	Growth abnormality	10283	CWC27	ORPHA:166035
HP:0001507	Growth abnormality	10283	CWC27	OMIM:250410
HP:0001507	Growth abnormality	8720	MBTPS1	OMIM:618392
HP:0001507	Growth abnormality	57477	SHROOM4	ORPHA:85288
HP:0001507	Growth abnormality	1289	COL5A1	OMIM:130000
HP:0001507	Growth abnormality	23233	EXOC6B	OMIM:618395
HP:0001507	Growth abnormality	8450	CUL4B	ORPHA:85293
HP:0001507	Growth abnormality	8450	CUL4B	OMIM:300354
HP:0001507	Growth abnormality	7169	TPM2	OMIM:108120
HP:0001507	Growth abnormality	7169	TPM2	ORPHA:1147
HP:0001507	Growth abnormality	55670	PEX26	ORPHA:772
HP:0001507	Growth abnormality	55670	PEX26	ORPHA:44
HP:0001507	Growth abnormality	55670	PEX26	ORPHA:912
HP:0001507	Growth abnormality	5828	PEX2	ORPHA:772
HP:0001507	Growth abnormality	5828	PEX2	ORPHA:44
HP:0001507	Growth abnormality	5828	PEX2	ORPHA:912
HP:0001507	Growth abnormality	8504	PEX3	ORPHA:772
HP:0001507	Growth abnormality	8504	PEX3	ORPHA:44
HP:0001507	Growth abnormality	8504	PEX3	ORPHA:912
HP:0001507	Growth abnormality	9409	PEX16	ORPHA:772
HP:0001507	Growth abnormality	9409	PEX16	ORPHA:44
HP:0001507	Growth abnormality	9409	PEX16	ORPHA:912
HP:0001507	Growth abnormality	5190	PEX6	ORPHA:772
HP:0001507	Growth abnormality	5190	PEX6	ORPHA:3220
HP:0001507	Growth abnormality	5190	PEX6	ORPHA:44
HP:0001507	Growth abnormality	5190	PEX6	ORPHA:912
HP:0001507	Growth abnormality	8799	PEX11B	ORPHA:772
HP:0001507	Growth abnormality	8799	PEX11B	ORPHA:44
HP:0001507	Growth abnormality	8799	PEX11B	ORPHA:912
HP:0001507	Growth abnormality	5189	PEX1	ORPHA:772
HP:0001507	Growth abnormality	5189	PEX1	ORPHA:3220
HP:0001507	Growth abnormality	5189	PEX1	ORPHA:44
HP:0001507	Growth abnormality	5189	PEX1	ORPHA:912
HP:0001507	Growth abnormality	5193	PEX12	ORPHA:772
HP:0001507	Growth abnormality	5193	PEX12	ORPHA:44
HP:0001507	Growth abnormality	5193	PEX12	ORPHA:912
HP:0001507	Growth abnormality	5194	PEX13	ORPHA:772
HP:0001507	Growth abnormality	5194	PEX13	ORPHA:44
HP:0001507	Growth abnormality	5194	PEX13	ORPHA:912
HP:0001507	Growth abnormality	5195	PEX14	ORPHA:772
HP:0001507	Growth abnormality	5195	PEX14	ORPHA:44
HP:0001507	Growth abnormality	5195	PEX14	ORPHA:912
HP:0001507	Growth abnormality	5192	PEX10	ORPHA:772
HP:0001507	Growth abnormality	5192	PEX10	ORPHA:44
HP:0001507	Growth abnormality	5192	PEX10	ORPHA:912
HP:0001507	Growth abnormality	8242	KDM5C	ORPHA:85279
HP:0001507	Growth abnormality	8242	KDM5C	OMIM:300534
HP:0001507	Growth abnormality	5339	PLEC	OMIM:226670
HP:0001507	Growth abnormality	89970	RSPRY1	ORPHA:457395
HP:0001507	Growth abnormality	89970	RSPRY1	OMIM:616723
HP:0001507	Growth abnormality	51594	NBAS	OMIM:614800
HP:0001507	Growth abnormality	54187	NANS	OMIM:610442
HP:0001507	Growth abnormality	284058	KANSL1	OMIM:610443
HP:0001507	Growth abnormality	3643	INSR	ORPHA:769
HP:0001507	Growth abnormality	3643	INSR	OMIM:262190
HP:0001507	Growth abnormality	7474	WNT5A	OMIM:180700
HP:0001507	Growth abnormality	7474	WNT5A	ORPHA:3107
HP:0001507	Growth abnormality	1855	DVL1	OMIM:180700
HP:0001507	Growth abnormality	1855	DVL1	OMIM:616331
HP:0001507	Growth abnormality	1855	DVL1	ORPHA:3107
HP:0001507	Growth abnormality	51626	DYNC2LI1	OMIM:617088
HP:0001507	Growth abnormality	51626	DYNC2LI1	ORPHA:474
HP:0001507	Growth abnormality	55181	SMG8	OMIM:619268
HP:0001507	Growth abnormality	27445	PCLO	OMIM:608027
HP:0001507	Growth abnormality	26146	TRAF3IP1	ORPHA:3156
HP:0001507	Growth abnormality	9657	IQCB1	ORPHA:3156
HP:0001507	Growth abnormality	10806	SDCCAG8	ORPHA:3156
HP:0001507	Growth abnormality	10806	SDCCAG8	OMIM:615993
HP:0001507	Growth abnormality	10806	SDCCAG8	ORPHA:110
HP:0001507	Growth abnormality	27130	INVS	ORPHA:3156
HP:0001507	Growth abnormality	80184	CEP290	ORPHA:3156
HP:0001507	Growth abnormality	80184	CEP290	ORPHA:110
HP:0001507	Growth abnormality	27031	NPHP3	ORPHA:3156
HP:0001507	Growth abnormality	22897	CEP164	ORPHA:3156
HP:0001507	Growth abnormality	9915	ARNT2	ORPHA:3157
HP:0001507	Growth abnormality	9915	ARNT2	OMIM:615926
HP:0001507	Growth abnormality	4053	LTBP2	OMIM:614819
HP:0001507	Growth abnormality	4053	LTBP2	ORPHA:3449
HP:0001507	Growth abnormality	128	ADH5	OMIM:619151
HP:0001507	Growth abnormality	64374	SIL1	OMIM:248800
HP:0001507	Growth abnormality	652	BMP4	ORPHA:828
HP:0001507	Growth abnormality	857	CAV1	OMIM:612526
HP:0001507	Growth abnormality	10093	ARPC4	OMIM:620141
HP:0001507	Growth abnormality	9496	TBX4	ORPHA:238578
HP:0001507	Growth abnormality	9496	TBX4	ORPHA:261279
HP:0001507	Growth abnormality	9496	TBX4	OMIM:147891
HP:0001507	Growth abnormality	841	CASP8	OMIM:607271
HP:0001507	Growth abnormality	224	ALDH3A2	ORPHA:816
HP:0001507	Growth abnormality	224	ALDH3A2	OMIM:270200
HP:0001507	Growth abnormality	2314	FLII	ORPHA:819
HP:0001507	Growth abnormality	23096	IQSEC2	ORPHA:819
HP:0001507	Growth abnormality	10743	RAI1	ORPHA:819
HP:0001507	Growth abnormality	10743	RAI1	ORPHA:1713
HP:0001507	Growth abnormality	10743	RAI1	OMIM:182290
HP:0001507	Growth abnormality	10522	DEAF1	ORPHA:819
HP:0001507	Growth abnormality	4758	NEU1	ORPHA:812
HP:0001507	Growth abnormality	4758	NEU1	OMIM:256550
HP:0001507	Growth abnormality	9382	COG1	OMIM:611209
HP:0001507	Growth abnormality	56992	KIF15	ORPHA:261323
HP:0001507	Growth abnormality	4001	LMNB1	OMIM:619179
HP:0001507	Growth abnormality	4001	LMNB1	ORPHA:2514
HP:0001507	Growth abnormality	1801	DPH1	OMIM:616901
HP:0001507	Growth abnormality	1801	DPH1	ORPHA:459061
HP:0001507	Growth abnormality	412	STS	ORPHA:281090
HP:0001507	Growth abnormality	23116	TOGARAM1	OMIM:619185
HP:0001507	Growth abnormality	55148	UBR7	OMIM:619189
HP:0001507	Growth abnormality	23545	ATP6V0A2	OMIM:278250
HP:0001507	Growth abnormality	23545	ATP6V0A2	ORPHA:2834
HP:0001507	Growth abnormality	23545	ATP6V0A2	ORPHA:357074
HP:0001507	Growth abnormality	10801	SEPTIN9	OMIM:162100
HP:0001507	Growth abnormality	10801	SEPTIN9	ORPHA:2901
HP:0001507	Growth abnormality	7840	ALMS1	ORPHA:64
HP:0001507	Growth abnormality	7840	ALMS1	OMIM:203800
HP:0001507	Growth abnormality	7025	NR2F1	ORPHA:401777
HP:0001507	Growth abnormality	4318	MMP9	ORPHA:1040
HP:0001507	Growth abnormality	4322	MMP13	ORPHA:1040
HP:0001507	Growth abnormality	4322	MMP13	OMIM:250400
HP:0001507	Growth abnormality	6091	ROBO1	ORPHA:95496
HP:0001507	Growth abnormality	6091	ROBO1	OMIM:620303
HP:0001507	Growth abnormality	23432	GPR161	ORPHA:95496
HP:0001507	Growth abnormality	10907	TXNL4A	OMIM:608572
HP:0001507	Growth abnormality	10907	TXNL4A	ORPHA:1200
HP:0001507	Growth abnormality	55343	SLC35C1	OMIM:266265
HP:0001507	Growth abnormality	55343	SLC35C1	ORPHA:99843
HP:0001507	Growth abnormality	3251	HPRT1	OMIM:300322
HP:0001507	Growth abnormality	23261	CAMTA1	OMIM:614756
HP:0001507	Growth abnormality	695	BTK	ORPHA:47
HP:0001507	Growth abnormality	695	BTK	OMIM:307200
HP:0001507	Growth abnormality	415	ARSL	OMIM:302950
HP:0001507	Growth abnormality	3977	LIFR	ORPHA:3206
HP:0001507	Growth abnormality	3977	LIFR	OMIM:601559
HP:0001507	Growth abnormality	545	ATR	ORPHA:808
HP:0001507	Growth abnormality	5116	PCNT	ORPHA:808
HP:0001507	Growth abnormality	79902	NUP85	ORPHA:808
HP:0001507	Growth abnormality	79902	NUP85	OMIM:618176
HP:0001507	Growth abnormality	84126	ATRIP	ORPHA:808
HP:0001507	Growth abnormality	10293	TRAIP	ORPHA:808
HP:0001507	Growth abnormality	10293	TRAIP	OMIM:616777
HP:0001507	Growth abnormality	1763	DNA2	ORPHA:808
HP:0001507	Growth abnormality	1763	DNA2	OMIM:620819
HP:0001507	Growth abnormality	1763	DNA2	OMIM:615807
HP:0001507	Growth abnormality	2961	GTF2E2	OMIM:616943
HP:0001507	Growth abnormality	3339	HSPG2	ORPHA:800
HP:0001507	Growth abnormality	3339	HSPG2	ORPHA:1606
HP:0001507	Growth abnormality	3339	HSPG2	OMIM:255800
HP:0001507	Growth abnormality	84876	ORAI1	ORPHA:3204
HP:0001507	Growth abnormality	6786	STIM1	ORPHA:3204
HP:0001507	Growth abnormality	6786	STIM1	OMIM:185070
HP:0001507	Growth abnormality	6567	SLC16A2	ORPHA:59
HP:0001507	Growth abnormality	57724	EPG5	ORPHA:1493
HP:0001507	Growth abnormality	10535	RNASEH2A	ORPHA:51
HP:0001507	Growth abnormality	84153	RNASEH2C	ORPHA:51
HP:0001507	Growth abnormality	25939	SAMHD1	ORPHA:51
HP:0001507	Growth abnormality	79621	RNASEH2B	ORPHA:51
HP:0001507	Growth abnormality	103	ADAR	ORPHA:51
HP:0001507	Growth abnormality	100147744	RNU7-1	ORPHA:51
HP:0001507	Growth abnormality	134353	LSM11	ORPHA:51
HP:0001507	Growth abnormality	64135	IFIH1	ORPHA:51
HP:0001507	Growth abnormality	64135	IFIH1	OMIM:182250
HP:0001507	Growth abnormality	4054	LTBP3	OMIM:617809
HP:0001507	Growth abnormality	4054	LTBP3	OMIM:601216
HP:0001507	Growth abnormality	10075	HUWE1	OMIM:309590
HP:0001507	Growth abnormality	26160	IFT172	OMIM:615630
HP:0001507	Growth abnormality	26160	IFT172	ORPHA:110
HP:0001507	Growth abnormality	26160	IFT172	ORPHA:474
HP:0001507	Growth abnormality	2733	GLE1	ORPHA:1486
HP:0001507	Growth abnormality	29123	ANKRD11	ORPHA:2332
HP:0001507	Growth abnormality	29123	ANKRD11	OMIM:148050
HP:0001507	Growth abnormality	9759	HDAC4	ORPHA:1001
HP:0001507	Growth abnormality	9759	HDAC4	OMIM:600430
HP:0001507	Growth abnormality	4010	LMX1B	OMIM:161200
HP:0001507	Growth abnormality	4010	LMX1B	ORPHA:2613
HP:0001507	Growth abnormality	9150	CTDP1	OMIM:604168
HP:0001507	Growth abnormality	9150	CTDP1	ORPHA:48431
HP:0001507	Growth abnormality	7200	TRH	OMIM:275120
HP:0001507	Growth abnormality	9837	GINS1	OMIM:617827
HP:0001507	Growth abnormality	145873	MESP2	OMIM:277300
HP:0001507	Growth abnormality	145873	MESP2	ORPHA:2311
HP:0001507	Growth abnormality	10683	DLL3	OMIM:277300
HP:0001507	Growth abnormality	10683	DLL3	ORPHA:2311
HP:0001507	Growth abnormality	6638	SNRPN	ORPHA:177904
HP:0001507	Growth abnormality	6638	SNRPN	ORPHA:177901
HP:0001507	Growth abnormality	6638	SNRPN	ORPHA:177910
HP:0001507	Growth abnormality	6638	SNRPN	ORPHA:177907
HP:0001507	Growth abnormality	6638	SNRPN	ORPHA:98754
HP:0001507	Growth abnormality	4692	NDN	ORPHA:177904
HP:0001507	Growth abnormality	4692	NDN	ORPHA:177901
HP:0001507	Growth abnormality	4692	NDN	ORPHA:177910
HP:0001507	Growth abnormality	4692	NDN	ORPHA:98754
HP:0001507	Growth abnormality	4948	OCA2	ORPHA:177904
HP:0001507	Growth abnormality	4948	OCA2	ORPHA:177901
HP:0001507	Growth abnormality	4948	OCA2	ORPHA:98754
HP:0001507	Growth abnormality	55906	ZC4H2	OMIM:314580
HP:0001507	Growth abnormality	55906	ZC4H2	OMIM:301041
HP:0001507	Growth abnormality	10560	SLC19A2	OMIM:249270
HP:0001507	Growth abnormality	10560	SLC19A2	ORPHA:49827
HP:0001507	Growth abnormality	2067	ERCC1	ORPHA:1466
HP:0001507	Growth abnormality	2067	ERCC1	OMIM:610758
HP:0001507	Growth abnormality	2074	ERCC6	ORPHA:1466
HP:0001507	Growth abnormality	134701	RIPPLY2	ORPHA:2311
HP:0001507	Growth abnormality	3955	LFNG	ORPHA:2311
HP:0001507	Growth abnormality	3955	LFNG	OMIM:609813
HP:0001507	Growth abnormality	84667	HES7	ORPHA:2311
HP:0001507	Growth abnormality	84667	HES7	OMIM:613686
HP:0001507	Growth abnormality	79947	DHDDS	OMIM:617836
HP:0001507	Growth abnormality	79947	DHDDS	ORPHA:442835
HP:0001507	Growth abnormality	2138	EYA1	ORPHA:2792
HP:0001507	Growth abnormality	5075	PAX1	ORPHA:2792
HP:0001507	Growth abnormality	6678	SPARC	OMIM:616507
HP:0001507	Growth abnormality	10804	GJB6	OMIM:129500
HP:0001507	Growth abnormality	197131	UBR1	ORPHA:2315
HP:0001507	Growth abnormality	197131	UBR1	OMIM:243800
HP:0001507	Growth abnormality	4982	TNFRSF11B	OMIM:239000
HP:0001507	Growth abnormality	4982	TNFRSF11B	ORPHA:2801
HP:0001507	Growth abnormality	128637	TBC1D20	OMIM:615663
HP:0001507	Growth abnormality	128637	TBC1D20	ORPHA:2510
HP:0001507	Growth abnormality	79827	CLMP	ORPHA:2301
HP:0001507	Growth abnormality	860	RUNX2	ORPHA:1452
HP:0001507	Growth abnormality	860	RUNX2	OMIM:156510
HP:0001507	Growth abnormality	860	RUNX2	OMIM:119600
HP:0001507	Growth abnormality	7476	WNT7A	OMIM:613005
HP:0001507	Growth abnormality	7476	WNT7A	OMIM:228930
HP:0001507	Growth abnormality	760	CA2	ORPHA:2785
HP:0001507	Growth abnormality	760	CA2	OMIM:259730
HP:0001507	Growth abnormality	9361	LONP1	ORPHA:1458
HP:0001507	Growth abnormality	9361	LONP1	OMIM:600373
HP:0001507	Growth abnormality	64840	PORCN	OMIM:305600
HP:0001507	Growth abnormality	131669	UROC1	OMIM:276880
HP:0001507	Growth abnormality	5352	PLOD2	ORPHA:2771
HP:0001507	Growth abnormality	5352	PLOD2	OMIM:609220
HP:0001507	Growth abnormality	60681	FKBP10	ORPHA:2771
HP:0001507	Growth abnormality	60681	FKBP10	OMIM:259450
HP:0001507	Growth abnormality	60681	FKBP10	OMIM:610968
HP:0001507	Growth abnormality	284252	KCTD1	OMIM:181270
HP:0001507	Growth abnormality	122553	TRAPPC6B	OMIM:617862
HP:0001507	Growth abnormality	2893	GRIA4	OMIM:617864
HP:0001507	Growth abnormality	271	AMPD2	OMIM:615686
HP:0001507	Growth abnormality	271	AMPD2	ORPHA:401805
HP:0001507	Growth abnormality	139285	AMER1	OMIM:300373
HP:0001507	Growth abnormality	4094	MAF	OMIM:601088
HP:0001507	Growth abnormality	4094	MAF	ORPHA:1272
HP:0001507	Growth abnormality	650	BMP2	OMIM:617877
HP:0001507	Growth abnormality	650	BMP2	ORPHA:261295
HP:0001507	Growth abnormality	51099	ABHD5	ORPHA:98907
HP:0001507	Growth abnormality	57104	PNPLA2	ORPHA:98908
HP:0001507	Growth abnormality	57104	PNPLA2	OMIM:610717
HP:0001507	Growth abnormality	2806	GOT2	OMIM:618721
HP:0001507	Growth abnormality	84700	MYO18B	OMIM:616549
HP:0001507	Growth abnormality	4750	NEK1	ORPHA:2751
HP:0001507	Growth abnormality	4750	NEK1	OMIM:252100
HP:0001507	Growth abnormality	8086	AAAS	OMIM:231550
HP:0001507	Growth abnormality	8086	AAAS	ORPHA:869
HP:0001507	Growth abnormality	6389	SDHA	OMIM:252011
HP:0001507	Growth abnormality	6609	SMPD1	OMIM:607616
HP:0001507	Growth abnormality	6609	SMPD1	OMIM:257200
HP:0001507	Growth abnormality	6609	SMPD1	ORPHA:77293
HP:0001507	Growth abnormality	83452	RAB33B	OMIM:615222
HP:0001507	Growth abnormality	7471	WNT1	OMIM:615220
HP:0001507	Growth abnormality	80169	CTC1	OMIM:612199
HP:0001507	Growth abnormality	80169	CTC1	ORPHA:1775
HP:0001507	Growth abnormality	8626	TP63	ORPHA:1896
HP:0001507	Growth abnormality	8626	TP63	OMIM:129400
HP:0001507	Growth abnormality	10736	SIX2	ORPHA:488437
HP:0001507	Growth abnormality	51763	INPP5K	OMIM:617404
HP:0001507	Growth abnormality	529	ATP6V1E1	OMIM:617402
HP:0001507	Growth abnormality	529	ATP6V1E1	ORPHA:357074
HP:0001507	Growth abnormality	6655	SOS2	OMIM:616559
HP:0001507	Growth abnormality	6655	SOS2	ORPHA:648
HP:0001507	Growth abnormality	204219	CERS3	ORPHA:79394
HP:0001507	Growth abnormality	285848	PNPLA1	ORPHA:79394
HP:0001507	Growth abnormality	255758	DYNLT2B	OMIM:617405
HP:0001507	Growth abnormality	246329	STAC3	OMIM:255995
HP:0001507	Growth abnormality	246329	STAC3	ORPHA:168572
HP:0001507	Growth abnormality	10617	STAMBP	OMIM:614261
HP:0001507	Growth abnormality	23417	MLYCD	OMIM:248360
HP:0001507	Growth abnormality	755	CFAP410	OMIM:602271
HP:0001507	Growth abnormality	755	CFAP410	OMIM:617547
HP:0001507	Growth abnormality	79848	CSPP1	ORPHA:397715
HP:0001507	Growth abnormality	9786	KIAA0586	ORPHA:397715
HP:0001507	Growth abnormality	114803	MYSM1	ORPHA:508542
HP:0001507	Growth abnormality	114803	MYSM1	OMIM:618116
HP:0001507	Growth abnormality	1528	CYB5A	ORPHA:90796
HP:0001507	Growth abnormality	1586	CYP17A1	ORPHA:90796
HP:0001507	Growth abnormality	10730	YME1L1	OMIM:617302
HP:0001507	Growth abnormality	4286	MITF	OMIM:617306
HP:0001507	Growth abnormality	7486	WRN	OMIM:277700
HP:0001507	Growth abnormality	7486	WRN	ORPHA:902
HP:0001507	Growth abnormality	121340	SP7	ORPHA:1513
HP:0001507	Growth abnormality	121340	SP7	OMIM:613849
HP:0001507	Growth abnormality	60561	RINT1	OMIM:618641
HP:0001507	Growth abnormality	91869	RFT1	ORPHA:244310
HP:0001507	Growth abnormality	91869	RFT1	OMIM:612015
HP:0001507	Growth abnormality	5426	POLE	OMIM:615139
HP:0001507	Growth abnormality	79184	BRCC3	ORPHA:280679
HP:0001507	Growth abnormality	1501	CTNND2	ORPHA:281
HP:0001507	Growth abnormality	9037	SEMA5A	ORPHA:281
HP:0001507	Growth abnormality	497661	C18orf32	OMIM:619985
HP:0001507	Growth abnormality	26057	ANKRD17	OMIM:619504
HP:0001507	Growth abnormality	3737	KCNA2	ORPHA:442835
HP:0001507	Growth abnormality	1759	DNM1	ORPHA:442835
HP:0001507	Growth abnormality	8120	AP3B2	ORPHA:442835
HP:0001507	Growth abnormality	523	ATP6V1A	ORPHA:442835
HP:0001507	Growth abnormality	523	ATP6V1A	ORPHA:357074
HP:0001507	Growth abnormality	10991	SLC38A3	ORPHA:442835
HP:0001507	Growth abnormality	51343	FZR1	ORPHA:442835
HP:0001507	Growth abnormality	3747	KCNC2	ORPHA:442835
HP:0001507	Growth abnormality	1917	EEF1A2	ORPHA:442835
HP:0001507	Growth abnormality	23219	FBXO28	ORPHA:442835
HP:0001507	Growth abnormality	2561	GABRB2	ORPHA:442835
HP:0001507	Growth abnormality	8831	SYNGAP1	ORPHA:442835
HP:0001507	Growth abnormality	2558	GABRA5	ORPHA:442835
HP:0001507	Growth abnormality	2906	GRIN2D	ORPHA:442835
HP:0001507	Growth abnormality	116150	NUS1	ORPHA:442835
HP:0001507	Growth abnormality	1213	CLTC	ORPHA:442835
HP:0001507	Growth abnormality	23334	SZT2	ORPHA:442835
HP:0001507	Growth abnormality	348980	HCN1	ORPHA:442835
HP:0001507	Growth abnormality	25977	NECAP1	ORPHA:442835
HP:0001507	Growth abnormality	23241	PACS2	ORPHA:442835
HP:0001507	Growth abnormality	16	AARS1	ORPHA:442835
HP:0001507	Growth abnormality	16	AARS1	OMIM:616339
HP:0001507	Growth abnormality	6334	SCN8A	ORPHA:442835
HP:0001507	Growth abnormality	2555	GABRA2	ORPHA:442835
HP:0001507	Growth abnormality	55152	DALRD3	ORPHA:442835
HP:0001507	Growth abnormality	26999	CYFIP2	ORPHA:442835
HP:0001507	Growth abnormality	4915	NTRK2	ORPHA:442835
HP:0001507	Growth abnormality	25973	PARS2	ORPHA:442835
HP:0001507	Growth abnormality	23097	CDK19	ORPHA:442835
HP:0001507	Growth abnormality	2257	FGF12	ORPHA:442835
HP:0001507	Growth abnormality	5530	PPP3CA	ORPHA:442835
HP:0001507	Growth abnormality	5530	PPP3CA	OMIM:618265
HP:0001507	Growth abnormality	5530	PPP3CA	OMIM:617711
HP:0001507	Growth abnormality	478	ATP1A3	ORPHA:442835
HP:0001507	Growth abnormality	22906	TRAK1	ORPHA:442835
HP:0001507	Growth abnormality	2566	GABRG2	ORPHA:442835
HP:0001507	Growth abnormality	7532	YWHAG	ORPHA:442835
HP:0001507	Growth abnormality	79876	UBA5	ORPHA:442835
HP:0001507	Growth abnormality	79876	UBA5	OMIM:617132
HP:0001507	Growth abnormality	6328	SCN3A	ORPHA:442835
HP:0001507	Growth abnormality	781	CACNA2D1	ORPHA:442835
HP:0001507	Growth abnormality	10659	CELF2	ORPHA:442835
HP:0001507	Growth abnormality	774	CACNA1B	ORPHA:442835
HP:0001507	Growth abnormality	51412	ACTL6B	ORPHA:442835
HP:0001507	Growth abnormality	6506	SLC1A2	ORPHA:442835
HP:0001507	Growth abnormality	8867	SYNJ1	ORPHA:442835
HP:0001507	Growth abnormality	477	ATP1A2	ORPHA:442835
HP:0001507	Growth abnormality	3745	KCNB1	ORPHA:442835
HP:0001507	Growth abnormality	284111	SLC13A5	ORPHA:442835
HP:0001507	Growth abnormality	284111	SLC13A5	ORPHA:1946
HP:0001507	Growth abnormality	22866	CNKSR2	ORPHA:442835
HP:0001507	Growth abnormality	773	CACNA1A	ORPHA:442835
HP:0001507	Growth abnormality	6323	SCN1A	ORPHA:442835
HP:0001507	Growth abnormality	55623	THUMPD1	OMIM:619989
HP:0001507	Growth abnormality	3476	IGBP1	ORPHA:52055
HP:0001507	Growth abnormality	3476	IGBP1	OMIM:300472
HP:0001507	Growth abnormality	54888	NSUN2	ORPHA:235
HP:0001507	Growth abnormality	54888	NSUN2	OMIM:611091
HP:0001507	Growth abnormality	253738	EBF3	OMIM:617330
HP:0001507	Growth abnormality	253738	EBF3	ORPHA:96148
HP:0001507	Growth abnormality	85301	COL27A1	OMIM:615155
HP:0001507	Growth abnormality	9453	GGPS1	OMIM:619518
HP:0001507	Growth abnormality	1660	DHX9	OMIM:620988
HP:0001507	Growth abnormality	26137	ZBTB20	OMIM:259050
HP:0001507	Growth abnormality	26137	ZBTB20	ORPHA:3042
HP:0001507	Growth abnormality	2720	GLB1	OMIM:230650
HP:0001507	Growth abnormality	6621	SNAPC4	OMIM:620515
HP:0001507	Growth abnormality	4626	MYH8	OMIM:158300
HP:0001507	Growth abnormality	4626	MYH8	ORPHA:3377
HP:0001507	Growth abnormality	3835	KIF22	OMIM:603546
HP:0001507	Growth abnormality	3835	KIF22	ORPHA:93360
HP:0001507	Growth abnormality	79989	IFT56	OMIM:619534
HP:0001507	Growth abnormality	9922	IQSEC1	OMIM:618687
HP:0001507	Growth abnormality	85365	ALG2	OMIM:607906
HP:0001507	Growth abnormality	4193	MDM2	OMIM:618681
HP:0001507	Growth abnormality	84522	JAGN1	OMIM:616022
HP:0001507	Growth abnormality	57479	PRR12	OMIM:619539
HP:0001507	Growth abnormality	79977	GRHL2	OMIM:616029
HP:0001507	Growth abnormality	3172	HNF4A	OMIM:616026
HP:0001507	Growth abnormality	79641	ROGDI	ORPHA:1946
HP:0001507	Growth abnormality	29893	PSMC3IP	ORPHA:243
HP:0001507	Growth abnormality	171568	POLR3H	ORPHA:243
HP:0001507	Growth abnormality	2516	NR5A1	ORPHA:243
HP:0001507	Growth abnormality	125150	ZSWIM7	ORPHA:243
HP:0001507	Growth abnormality	9210	BMP15	ORPHA:243
HP:0001507	Growth abnormality	23514	SPIDR	ORPHA:243
HP:0001507	Growth abnormality	2492	FSHR	ORPHA:243
HP:0001507	Growth abnormality	646	BNC1	ORPHA:243
HP:0001507	Growth abnormality	4438	MSH4	ORPHA:243
HP:0001507	Growth abnormality	10058	ABCB6	ORPHA:241
HP:0001507	Growth abnormality	6261	RYR1	OMIM:619542
HP:0001507	Growth abnormality	8621	CDK13	OMIM:617360
HP:0001507	Growth abnormality	93587	TRMT10A	OMIM:616033
HP:0001507	Growth abnormality	6654	SOS1	OMIM:610733
HP:0001507	Growth abnormality	6654	SOS1	ORPHA:648
HP:0001507	Growth abnormality	6778	STAT6	OMIM:620532
HP:0001507	Growth abnormality	8803	SUCLA2	ORPHA:1933
HP:0001507	Growth abnormality	8803	SUCLA2	OMIM:612073
HP:0001507	Growth abnormality	10466	COG5	ORPHA:263487
HP:0001507	Growth abnormality	10466	COG5	OMIM:613612
HP:0001507	Growth abnormality	6909	TBX2	OMIM:618223
HP:0001507	Growth abnormality	23363	OBSL1	OMIM:612921
HP:0001507	Growth abnormality	23363	OBSL1	ORPHA:2616
HP:0001507	Growth abnormality	5745	PTH1R	OMIM:600002
HP:0001507	Growth abnormality	5745	PTH1R	ORPHA:79106
HP:0001507	Growth abnormality	58484	NLRC4	OMIM:616050
HP:0001507	Growth abnormality	55869	HDAC8	OMIM:300882
HP:0001507	Growth abnormality	55869	HDAC8	ORPHA:3459
HP:0001507	Growth abnormality	55869	HDAC8	ORPHA:199
HP:0001507	Growth abnormality	9342	SNAP29	ORPHA:66631
HP:0001507	Growth abnormality	26128	KIFBP	ORPHA:66629
HP:0001507	Growth abnormality	9126	SMC3	OMIM:610759
HP:0001507	Growth abnormality	9126	SMC3	ORPHA:199
HP:0001507	Growth abnormality	57551	TAOK1	OMIM:619575
HP:0001507	Growth abnormality	10940	POP1	OMIM:617396
HP:0001507	Growth abnormality	10092	ARPC5	OMIM:620565
HP:0001507	Growth abnormality	23203	PMPCA	OMIM:213200
HP:0001507	Growth abnormality	23203	PMPCA	ORPHA:1170
HP:0001507	Growth abnormality	10483	SEC23B	ORPHA:201
HP:0001507	Growth abnormality	6390	SDHB	ORPHA:201
HP:0001507	Growth abnormality	6392	SDHD	ORPHA:201
HP:0001507	Growth abnormality	6391	SDHC	ORPHA:201
HP:0001507	Growth abnormality	205717	USF3	ORPHA:201
HP:0001507	Growth abnormality	100144748	KLLN	ORPHA:201
HP:0001507	Growth abnormality	10013	HDAC6	OMIM:300863
HP:0001507	Growth abnormality	10013	HDAC6	ORPHA:163966
HP:0001507	Growth abnormality	5277	PIGA	OMIM:300868
HP:0001507	Growth abnormality	23384	SPECC1L	OMIM:145420
HP:0001507	Growth abnormality	4990	SIX6	OMIM:206900
HP:0001507	Growth abnormality	1300	COL10A1	OMIM:156500
HP:0001507	Growth abnormality	3975	LHX1	ORPHA:261265
HP:0001507	Growth abnormality	6928	HNF1B	ORPHA:261265
HP:0001507	Growth abnormality	6928	HNF1B	ORPHA:2578
HP:0001507	Growth abnormality	29895	MYL11	OMIM:619110
HP:0001507	Growth abnormality	400916	CHCHD10	ORPHA:457050
HP:0001507	Growth abnormality	400916	CHCHD10	OMIM:616209
HP:0001507	Growth abnormality	1836	SLC26A2	ORPHA:628
HP:0001507	Growth abnormality	1836	SLC26A2	OMIM:226900
HP:0001507	Growth abnormality	79809	TTC21B	OMIM:613819
HP:0001507	Growth abnormality	79809	TTC21B	ORPHA:474
HP:0001507	Growth abnormality	10651	MTX2	OMIM:619127
HP:0001507	Growth abnormality	1278	COL1A2	OMIM:619120
HP:0001507	Growth abnormality	1278	COL1A2	OMIM:166220
HP:0001507	Growth abnormality	1278	COL1A2	ORPHA:230851
HP:0001507	Growth abnormality	22983	MAST1	OMIM:618273
HP:0001507	Growth abnormality	28956	LAMTOR2	OMIM:610798
HP:0001507	Growth abnormality	28956	LAMTOR2	ORPHA:90023
HP:0001507	Growth abnormality	118924	FRA10AC1	OMIM:620113
HP:0001507	Growth abnormality	4148	MATN3	OMIM:607078
HP:0001507	Growth abnormality	4148	MATN3	ORPHA:156728
HP:0001507	Growth abnormality	9895	TECPR2	ORPHA:320385
HP:0001507	Growth abnormality	9895	TECPR2	OMIM:615031
HP:0001507	Growth abnormality	23259	DDHD2	ORPHA:320380
HP:0001507	Growth abnormality	23259	DDHD2	OMIM:615033
HP:0001507	Growth abnormality	22800	RRAS2	ORPHA:648
HP:0001507	Growth abnormality	867	CBL	ORPHA:648
HP:0001507	Growth abnormality	867	CBL	OMIM:613563
HP:0001507	Growth abnormality	6016	RIT1	ORPHA:648
HP:0001507	Growth abnormality	6016	RIT1	OMIM:615355
HP:0001507	Growth abnormality	6237	RRAS	ORPHA:648
HP:0001507	Growth abnormality	22808	MRAS	ORPHA:648
HP:0001507	Growth abnormality	22808	MRAS	OMIM:618499
HP:0001507	Growth abnormality	200734	SPRED2	ORPHA:648
HP:0001507	Growth abnormality	200734	SPRED2	OMIM:619745
HP:0001507	Growth abnormality	5922	RASA2	ORPHA:648
HP:0001507	Growth abnormality	4683	NBN	ORPHA:647
HP:0001507	Growth abnormality	4683	NBN	OMIM:251260
HP:0001507	Growth abnormality	4508	MT-ATP6	ORPHA:644
HP:0001507	Growth abnormality	4508	MT-ATP6	ORPHA:254913
HP:0001507	Growth abnormality	8665	EIF3F	OMIM:618295
HP:0001507	Growth abnormality	9652	SKIC3	ORPHA:84064
HP:0001507	Growth abnormality	9652	SKIC3	OMIM:222470
HP:0001507	Growth abnormality	6499	SKIC2	ORPHA:84064
HP:0001507	Growth abnormality	871	SERPINH1	OMIM:613848
HP:0001507	Growth abnormality	11005	SPINK5	ORPHA:634
HP:0001507	Growth abnormality	7337	UBE3A	ORPHA:238446
HP:0001507	Growth abnormality	10262	SF3B4	OMIM:154400
HP:0001507	Growth abnormality	10491	CRTAP	ORPHA:2050
HP:0001507	Growth abnormality	10491	CRTAP	OMIM:610682
HP:0001507	Growth abnormality	9871	SEC24D	ORPHA:2050
HP:0001507	Growth abnormality	9871	SEC24D	OMIM:616294
HP:0001507	Growth abnormality	145173	B3GLCT	ORPHA:709
HP:0001507	Growth abnormality	10274	STAG1	ORPHA:502434
HP:0001507	Growth abnormality	1119	CHKA	OMIM:620023
HP:0001507	Growth abnormality	8496	PPFIBP1	OMIM:620024
HP:0001507	Growth abnormality	5111	PCNA	OMIM:615919
HP:0001507	Growth abnormality	5111	PCNA	ORPHA:438134
HP:0001507	Growth abnormality	2617	GARS1	OMIM:619042
HP:0001507	Growth abnormality	162	AP1B1	OMIM:242150
HP:0001507	Growth abnormality	1184	CLCN5	OMIM:300009
HP:0001507	Growth abnormality	1184	CLCN5	OMIM:300554
HP:0001507	Growth abnormality	1184	CLCN5	OMIM:308990
HP:0001507	Growth abnormality	23431	AP4E1	OMIM:613744
HP:0001507	Growth abnormality	23431	AP4E1	ORPHA:280763
HP:0001507	Growth abnormality	25782	RAB3GAP2	OMIM:212720
HP:0001507	Growth abnormality	25782	RAB3GAP2	ORPHA:2510
HP:0001507	Growth abnormality	25782	RAB3GAP2	ORPHA:1387
HP:0001507	Growth abnormality	5744	PTHLH	ORPHA:93387
HP:0001507	Growth abnormality	5744	PTHLH	OMIM:613382
HP:0001507	Growth abnormality	3239	HOXD13	ORPHA:93387
HP:0001507	Growth abnormality	658	BMPR1B	ORPHA:93384
HP:0001507	Growth abnormality	658	BMPR1B	ORPHA:93388
HP:0001507	Growth abnormality	658	BMPR1B	ORPHA:2639
HP:0001507	Growth abnormality	7298	TYMS	OMIM:620040
HP:0001507	Growth abnormality	7298	TYMS	ORPHA:1775
HP:0001507	Growth abnormality	51204	TACO1	OMIM:619052
HP:0001507	Growth abnormality	28958	COA3	OMIM:619058
HP:0001507	Growth abnormality	8647	ABCB11	OMIM:601847
HP:0001507	Growth abnormality	1351	COX8A	OMIM:619059
HP:0001507	Growth abnormality	4509	MT-ATP8	ORPHA:254913
HP:0001507	Growth abnormality	4509	MT-ATP8	ORPHA:480
HP:0001507	Growth abnormality	514	ATP5F1E	ORPHA:254913
HP:0001507	Growth abnormality	513	ATP5F1D	ORPHA:254913
HP:0001507	Growth abnormality	513	ATP5F1D	OMIM:618120
HP:0001507	Growth abnormality	498	ATP5F1A	ORPHA:254913
HP:0001507	Growth abnormality	84833	ATP5MK	ORPHA:254913
HP:0001507	Growth abnormality	91647	ATPAF2	ORPHA:254913
HP:0001507	Growth abnormality	9739	SETD1A	OMIM:619056
HP:0001507	Growth abnormality	340024	SLC6A19	OMIM:234500
HP:0001507	Growth abnormality	340024	SLC6A19	ORPHA:2116
HP:0001507	Growth abnormality	3117	HLA-DQA1	OMIM:212750
HP:0001507	Growth abnormality	3119	HLA-DQB1	OMIM:212750
HP:0001507	Growth abnormality	1327	COX4I1	OMIM:619060
HP:0001507	Growth abnormality	54476	RNF216	ORPHA:1173
HP:0001507	Growth abnormality	4212	MEIS2	OMIM:600987
HP:0001507	Growth abnormality	4212	MEIS2	ORPHA:261190
HP:0001507	Growth abnormality	26053	AUTS2	ORPHA:352490
HP:0001507	Growth abnormality	26053	AUTS2	OMIM:615834
HP:0001507	Growth abnormality	4697	NDUFA4	OMIM:619065
HP:0001507	Growth abnormality	1301	COL11A1	ORPHA:2021
HP:0001507	Growth abnormality	1301	COL11A1	ORPHA:560
HP:0001507	Growth abnormality	1301	COL11A1	OMIM:154780
HP:0001507	Growth abnormality	1302	COL11A2	ORPHA:2021
HP:0001507	Growth abnormality	1302	COL11A2	OMIM:215150
HP:0001507	Growth abnormality	10382	TUBB4A	OMIM:612438
HP:0001507	Growth abnormality	6197	RPS6KA3	ORPHA:276630
HP:0001507	Growth abnormality	6197	RPS6KA3	OMIM:303600
HP:0001507	Growth abnormality	6197	RPS6KA3	ORPHA:192
HP:0001507	Growth abnormality	2335	FN1	OMIM:184255
HP:0001507	Growth abnormality	2335	FN1	ORPHA:93315
HP:0001507	Growth abnormality	1802	DPH2	OMIM:620062
HP:0001507	Growth abnormality	1802	DPH2	ORPHA:459061
HP:0001507	Growth abnormality	6774	STAT3	OMIM:615952
HP:0001507	Growth abnormality	9719	ADAMTSL2	OMIM:231050
HP:0001507	Growth abnormality	51611	DPH5	OMIM:620070
HP:0001507	Growth abnormality	8905	AP1S2	ORPHA:85329
HP:0001507	Growth abnormality	9321	TRIP11	OMIM:184260
HP:0001507	Growth abnormality	9321	TRIP11	ORPHA:166272
HP:0001507	Growth abnormality	25970	SH2B1	ORPHA:329249
HP:0001507	Growth abnormality	1654	DDX3X	ORPHA:3338
HP:0001507	Growth abnormality	8838	CCN6	ORPHA:1159
HP:0001507	Growth abnormality	51085	MLXIPL	OMIM:194050
HP:0001507	Growth abnormality	3178	HNRNPA1	ORPHA:52430
HP:0001507	Growth abnormality	7415	VCP	ORPHA:52430
HP:0001507	Growth abnormality	3181	HNRNPA2B1	ORPHA:52430
HP:0001507	Growth abnormality	3187	HNRNPH1	OMIM:620083
HP:0001507	Growth abnormality	4920	ROR2	OMIM:268310
HP:0001507	Growth abnormality	22880	MORC2	OMIM:619090
HP:0001507	Growth abnormality	50484	RRM2B	OMIM:268315
HP:0001507	Growth abnormality	50484	RRM2B	ORPHA:480
HP:0001507	Growth abnormality	7140	TNNT3	ORPHA:1147
HP:0001507	Growth abnormality	7136	TNNI2	ORPHA:1147
HP:0001507	Growth abnormality	7136	TNNI2	OMIM:601680
HP:0001507	Growth abnormality	8195	MKKS	ORPHA:2473
HP:0001507	Growth abnormality	8195	MKKS	ORPHA:110
HP:0001507	Growth abnormality	51750	RTEL1	ORPHA:3322
HP:0001507	Growth abnormality	51750	RTEL1	ORPHA:1775
HP:0001507	Growth abnormality	65057	ACD	ORPHA:3322
HP:0001507	Growth abnormality	5073	PARN	ORPHA:3322
HP:0001507	Growth abnormality	5073	PARN	ORPHA:1775
HP:0001507	Growth abnormality	7015	TERT	ORPHA:3322
HP:0001507	Growth abnormality	7015	TERT	OMIM:613989
HP:0001507	Growth abnormality	7015	TERT	ORPHA:1775
HP:0001507	Growth abnormality	1736	DKC1	ORPHA:3322
HP:0001507	Growth abnormality	1736	DKC1	OMIM:305000
HP:0001507	Growth abnormality	1736	DKC1	ORPHA:1775
HP:0001507	Growth abnormality	9775	EIF4A3	OMIM:268305
HP:0001507	Growth abnormality	29072	SETD2	OMIM:616831
HP:0001507	Growth abnormality	51025	PAM16	OMIM:613320
HP:0001507	Growth abnormality	3897	L1CAM	ORPHA:2466
HP:0001507	Growth abnormality	3897	L1CAM	OMIM:303350
HP:0001507	Growth abnormality	4352	MPL	ORPHA:3319
HP:0001507	Growth abnormality	7066	THPO	ORPHA:3319
HP:0001507	Growth abnormality	10664	CTCF	OMIM:615502
HP:0001507	Growth abnormality	6307	MSMO1	OMIM:616834
HP:0001507	Growth abnormality	55112	DYNC2I1	OMIM:615503
HP:0001507	Growth abnormality	55112	DYNC2I1	ORPHA:474
HP:0001507	Growth abnormality	9780	PIEZO1	OMIM:616843
HP:0001507	Growth abnormality	22845	DOLK	ORPHA:91131
HP:0001507	Growth abnormality	411	ARSB	OMIM:253200
HP:0001507	Growth abnormality	10525	HYOU1	OMIM:233600
HP:0001507	Growth abnormality	26224	FBXL3	OMIM:606220
HP:0001507	Growth abnormality	11253	MAN1B1	OMIM:614202
HP:0001507	Growth abnormality	5925	RB1	ORPHA:1587
HP:0001507	Growth abnormality	80185	TTI2	OMIM:615541
HP:0001507	Growth abnormality	80185	TTI2	ORPHA:391307
HP:0001507	Growth abnormality	3758	KCNJ1	OMIM:241200
HP:0001507	Growth abnormality	547	KIF1A	OMIM:614213
HP:0001507	Growth abnormality	1001	CDH3	ORPHA:1573
HP:0001507	Growth abnormality	55644	OSGEP	OMIM:617729
HP:0001507	Growth abnormality	55644	OSGEP	ORPHA:2065
HP:0001507	Growth abnormality	112858	TP53RK	OMIM:617730
HP:0001507	Growth abnormality	112858	TP53RK	ORPHA:2065
HP:0001507	Growth abnormality	284086	NEK8	OMIM:620903
HP:0001507	Growth abnormality	1857	DVL3	OMIM:616894
HP:0001507	Growth abnormality	1857	DVL3	ORPHA:3107
HP:0001507	Growth abnormality	83737	ITCH	OMIM:613385
HP:0001507	Growth abnormality	2071	ERCC3	ORPHA:220295
HP:0001507	Growth abnormality	2071	ERCC3	OMIM:616390
HP:0001507	Growth abnormality	2071	ERCC3	OMIM:610651
HP:0001507	Growth abnormality	2071	ERCC3	ORPHA:910
HP:0001507	Growth abnormality	9215	LARGE1	OMIM:608840
HP:0001507	Growth abnormality	10717	AP4B1	ORPHA:280763
HP:0001507	Growth abnormality	10717	AP4B1	OMIM:614066
HP:0001507	Growth abnormality	9179	AP4M1	ORPHA:280763
HP:0001507	Growth abnormality	11154	AP4S1	ORPHA:280763
HP:0001507	Growth abnormality	11154	AP4S1	OMIM:614067
HP:0001507	Growth abnormality	2186	BPTF	OMIM:617755
HP:0001507	Growth abnormality	2990	GUSB	OMIM:253220
HP:0001507	Growth abnormality	6913	TBX15	ORPHA:93333
HP:0001507	Growth abnormality	9469	CHST3	OMIM:245600
HP:0001507	Growth abnormality	9469	CHST3	OMIM:143095
HP:0001507	Growth abnormality	26229	B3GAT3	OMIM:245600
HP:0001507	Growth abnormality	23404	EXOSC2	OMIM:617763
HP:0001507	Growth abnormality	55331	ACER3	OMIM:617762
HP:0001507	Growth abnormality	92935	MARS2	OMIM:616430
HP:0001507	Growth abnormality	10082	GPC6	ORPHA:93329
HP:0001507	Growth abnormality	6777	STAT5B	OMIM:618985
HP:0001507	Growth abnormality	5238	PGM3	ORPHA:443811
HP:0001507	Growth abnormality	4897	NRCAM	OMIM:619833
HP:0001507	Growth abnormality	6662	SOX9	ORPHA:140
HP:0001507	Growth abnormality	23498	HAAO	OMIM:617660
HP:0001507	Growth abnormality	9578	CDC42BPB	OMIM:619841
HP:0001507	Growth abnormality	64412	GZF1	OMIM:617662
HP:0001507	Growth abnormality	8942	KYNU	OMIM:617661
HP:0001507	Growth abnormality	1841	DTYMK	OMIM:619847
HP:0001507	Growth abnormality	5424	POLD1	OMIM:620836
HP:0001507	Growth abnormality	10686	CLDN16	OMIM:248250
HP:0001507	Growth abnormality	3149	HMGB3	OMIM:300915
HP:0001507	Growth abnormality	3716	JAK1	OMIM:618999
HP:0001507	Growth abnormality	9723	SEMA3E	ORPHA:138
HP:0001507	Growth abnormality	29957	SLC25A24	ORPHA:2963
HP:0001507	Growth abnormality	29957	SLC25A24	ORPHA:2095
HP:0001507	Growth abnormality	29957	SLC25A24	OMIM:612289
HP:0001507	Growth abnormality	818	CAMK2G	OMIM:618522
HP:0001507	Growth abnormality	10606	PAICS	OMIM:619859
HP:0001507	Growth abnormality	64359	NXN	OMIM:618529
HP:0001507	Growth abnormality	5139	PDE3A	OMIM:112410
HP:0001507	Growth abnormality	5139	PDE3A	ORPHA:1276
HP:0001507	Growth abnormality	10484	SEC23A	OMIM:607812
HP:0001507	Growth abnormality	10484	SEC23A	ORPHA:50814
HP:0001507	Growth abnormality	8550	MAPKAPK5	OMIM:619869
HP:0001507	Growth abnormality	11193	WBP4	OMIM:620852
HP:0001507	Growth abnormality	26834	RNU4-2	OMIM:620851
HP:0001507	Growth abnormality	81794	ADAMTS10	OMIM:277600
HP:0001507	Growth abnormality	81794	ADAMTS10	ORPHA:3449
HP:0001507	Growth abnormality	92482	BBIP1	ORPHA:110
HP:0001507	Growth abnormality	11020	IFT27	ORPHA:110
HP:0001507	Growth abnormality	582	BBS1	ORPHA:110
HP:0001507	Growth abnormality	49855	SCAPER	ORPHA:110
HP:0001507	Growth abnormality	51057	WDPCP	ORPHA:110
HP:0001507	Growth abnormality	132320	SCLT1	ORPHA:110
HP:0001507	Growth abnormality	27241	BBS9	ORPHA:110
HP:0001507	Growth abnormality	84984	CEP19	ORPHA:110
HP:0001507	Growth abnormality	54903	MKS1	ORPHA:110
HP:0001507	Growth abnormality	79738	BBS10	ORPHA:110
HP:0001507	Growth abnormality	123016	TTC8	ORPHA:110
HP:0001507	Growth abnormality	583	BBS2	ORPHA:110
HP:0001507	Growth abnormality	585	BBS4	ORPHA:110
HP:0001507	Growth abnormality	54585	LZTFL1	ORPHA:110
HP:0001507	Growth abnormality	55212	BBS7	ORPHA:110
HP:0001507	Growth abnormality	166379	BBS12	ORPHA:110
HP:0001507	Growth abnormality	157657	CFAP418	ORPHA:110
HP:0001507	Growth abnormality	84100	ARL6	ORPHA:110
HP:0001507	Growth abnormality	129880	BBS5	ORPHA:110
HP:0001507	Growth abnormality	80173	IFT74	ORPHA:110
HP:0001507	Growth abnormality	402381	SOHLH1	OMIM:617690
HP:0001507	Growth abnormality	3590	IL11RA	OMIM:614188
HP:0001507	Growth abnormality	23126	POGZ	OMIM:616364
HP:0001507	Growth abnormality	23126	POGZ	ORPHA:468678
HP:0001507	Growth abnormality	55773	TBC1D23	OMIM:617695
HP:0001507	Growth abnormality	8558	CDK10	OMIM:617694
HP:0001507	Growth abnormality	3098	HK1	OMIM:618547
HP:0001507	Growth abnormality	5590	PRKCZ	ORPHA:1606
HP:0001507	Growth abnormality	2563	GABRD	ORPHA:1606
HP:0001507	Growth abnormality	23013	SPEN	ORPHA:1606
HP:0001507	Growth abnormality	8510	MMP23B	ORPHA:1606
HP:0001507	Growth abnormality	7798	LUZP1	ORPHA:1606
HP:0001507	Growth abnormality	6497	SKI	ORPHA:1606
HP:0001507	Growth abnormality	10630	PDPN	ORPHA:1606
HP:0001507	Growth abnormality	10277	UBE4B	ORPHA:1606
HP:0001507	Growth abnormality	8514	KCNAB2	ORPHA:1606
HP:0001507	Growth abnormality	63976	PRDM16	ORPHA:1606
HP:0001507	Growth abnormality	54897	CASZ1	ORPHA:1606
HP:0001507	Growth abnormality	285362	SUMF1	ORPHA:585
HP:0001507	Growth abnormality	285362	SUMF1	OMIM:272200
HP:0001507	Growth abnormality	472	ATM	ORPHA:100
HP:0001507	Growth abnormality	472	ATM	OMIM:208900
HP:0001507	Growth abnormality	57679	ALS2	OMIM:205100
HP:0001507	Growth abnormality	84295	PHF6	ORPHA:127
HP:0001507	Growth abnormality	84295	PHF6	OMIM:301900
HP:0001507	Growth abnormality	29110	TBK1	OMIM:620880
HP:0001507	Growth abnormality	404672	GTF2H5	OMIM:616395
HP:0001507	Growth abnormality	9742	IFT140	OMIM:266920
HP:0001507	Growth abnormality	9742	IFT140	ORPHA:474
HP:0001507	Growth abnormality	205327	C2orf69	OMIM:619423
HP:0001507	Growth abnormality	26173	INTS1	OMIM:618571
HP:0001507	Growth abnormality	9427	ECEL1	OMIM:615065
HP:0001507	Growth abnormality	55656	INTS8	OMIM:618572
HP:0001507	Growth abnormality	55151	TMEM38B	OMIM:615066
HP:0001507	Growth abnormality	171546	SPTSSA	OMIM:620416
HP:0001507	Growth abnormality	171546	SPTSSA	OMIM:620417
HP:0001507	Growth abnormality	165918	RNF168	OMIM:611943
HP:0001507	Growth abnormality	165918	RNF168	ORPHA:420741
HP:0001507	Growth abnormality	9949	AMMECR1	OMIM:300990
HP:0001507	Growth abnormality	4549	MT-RNR1	ORPHA:551
HP:0001507	Growth abnormality	4571	MT-TP	ORPHA:551
HP:0001507	Growth abnormality	4564	MT-TH	ORPHA:551
HP:0001507	Growth abnormality	4564	MT-TH	ORPHA:550
HP:0001507	Growth abnormality	4538	MT-ND4	ORPHA:550
HP:0001507	Growth abnormality	56896	DPYSL5	OMIM:619435
HP:0001507	Growth abnormality	56896	DPYSL5	ORPHA:7
HP:0001507	Growth abnormality	1859	DYRK1A	ORPHA:268261
HP:0001507	Growth abnormality	1859	DYRK1A	OMIM:614104
HP:0001507	Growth abnormality	6418	SET	OMIM:618106
HP:0001507	Growth abnormality	7707	ZNF148	OMIM:617260
HP:0001507	Growth abnormality	3778	KCNMA1	OMIM:618596
HP:0001507	Growth abnormality	23729	SHPK	ORPHA:440713
HP:0001507	Growth abnormality	4952	OCRL	ORPHA:534
HP:0001507	Growth abnormality	4952	OCRL	OMIM:300555
HP:0001507	Growth abnormality	4952	OCRL	OMIM:309000
HP:0001507	Growth abnormality	56975	FAM20C	OMIM:259775
HP:0001507	Growth abnormality	55250	ELP2	OMIM:617270
HP:0001507	Growth abnormality	3039	HBA1	ORPHA:98791
HP:0001507	Growth abnormality	3040	HBA2	ORPHA:98791
HP:0001507	Growth abnormality	2735	GLI1	OMIM:618123
HP:0001507	Growth abnormality	8888	MCM3AP	OMIM:618124
HP:0001507	Growth abnormality	4052	LTBP1	OMIM:619451
HP:0001507	Growth abnormality	9675	TTI1	OMIM:620445
HP:0001507	Growth abnormality	1312	COMT	ORPHA:567
HP:0001507	Growth abnormality	221037	JMJD1C	ORPHA:567
HP:0001507	Growth abnormality	2812	GP1BB	ORPHA:567
HP:0001507	Growth abnormality	6239	RREB1	ORPHA:567
HP:0001507	Growth abnormality	7290	HIRA	ORPHA:567
HP:0001507	Growth abnormality	9632	SEC24C	ORPHA:567
HP:0001507	Growth abnormality	7353	UFD1	ORPHA:567
HP:0001507	Growth abnormality	421	ARVCF	ORPHA:567
HP:0001507	Growth abnormality	3858	KRT10	OMIM:609165
HP:0001507	Growth abnormality	6557	SLC12A1	OMIM:601678
HP:0001507	Growth abnormality	633	BGN	OMIM:300989
HP:0001507	Growth abnormality	146206	CARMIL2	OMIM:618131
HP:0001507	Growth abnormality	3188	HNRNPH2	OMIM:300986
HP:0001507	Growth abnormality	1974	EIF4A2	OMIM:620455
HP:0001507	Growth abnormality	4613	MYCN	ORPHA:391641
HP:0001507	Growth abnormality	57187	THOC2	OMIM:300957
HP:0001507	Growth abnormality	57187	THOC2	ORPHA:457240
HP:0001507	Growth abnormality	2892	GRIA3	ORPHA:364028
HP:0001507	Growth abnormality	2892	GRIA3	OMIM:300699
HP:0001507	Growth abnormality	7737	RNF113A	OMIM:300953
HP:0001507	Growth abnormality	4361	MRE11	ORPHA:251347
HP:0001507	Growth abnormality	64327	LMBR1	ORPHA:988
HP:0001507	Growth abnormality	9060	PAPSS2	OMIM:612847
HP:0001507	Growth abnormality	2317	FLNB	ORPHA:503
HP:0001507	Growth abnormality	2317	FLNB	OMIM:150250
HP:0001507	Growth abnormality	10682	EBP	OMIM:300960
HP:0001507	Growth abnormality	10682	EBP	ORPHA:401973
HP:0001507	Growth abnormality	10682	EBP	ORPHA:35173
HP:0001507	Growth abnormality	8567	MADD	OMIM:619004
HP:0001507	Growth abnormality	2760	GM2A	ORPHA:309246
HP:0001507	Growth abnormality	60676	PAPPA2	OMIM:619489
HP:0001507	Growth abnormality	8239	USP9X	OMIM:300968
HP:0001507	Growth abnormality	8239	USP9X	ORPHA:480880
HP:0001507	Growth abnormality	2998	GYS2	ORPHA:2089
HP:0001507	Growth abnormality	407975	MIR17HG	ORPHA:391646
HP:0001507	Growth abnormality	55599	RNPC3	OMIM:618160
HP:0001507	Growth abnormality	5317	PKP1	ORPHA:158668
HP:0001507	Growth abnormality	84231	TRAF7	OMIM:618164
HP:0001507	Growth abnormality	2193	FARSA	OMIM:619013
HP:0001507	Growth abnormality	203190	LGI3	OMIM:620007
HP:0001507	Growth abnormality	9897	WASHC5	ORPHA:7
HP:0001507	Growth abnormality	28952	CCDC22	ORPHA:7
HP:0001507	Growth abnormality	57020	VPS35L	ORPHA:7
HP:0001507	Growth abnormality	64432	MRPS25	OMIM:619025
HP:0001507	Growth abnormality	1496	CTNNA2	OMIM:618174
HP:0001507	Growth abnormality	79693	YRDC	ORPHA:2065
HP:0001507	Growth abnormality	51002	TPRKB	ORPHA:2065
HP:0001507	Growth abnormality	84942	WDR73	ORPHA:2065
HP:0001507	Growth abnormality	84942	WDR73	OMIM:251300
HP:0001507	Growth abnormality	55746	NUP133	ORPHA:2065
HP:0001507	Growth abnormality	84520	GON7	ORPHA:2065
HP:0001507	Growth abnormality	8270	LAGE3	ORPHA:2065
HP:0001507	Growth abnormality	8270	LAGE3	OMIM:301006
HP:0001507	Growth abnormality	26276	VPS33B	OMIM:620010
HP:0001507	Growth abnormality	9898	UBAP2L	OMIM:620494
HP:0001507	Growth abnormality	7355	SLC35A2	ORPHA:356961
HP:0001507	Growth abnormality	57539	WDR35	OMIM:613610
HP:0001507	Growth abnormality	57539	WDR35	OMIM:614091
HP:0001507	Growth abnormality	123263	MTFMT	OMIM:614947
HP:0001507	Growth abnormality	9839	ZEB2	OMIM:235730
HP:0001507	Growth abnormality	9839	ZEB2	ORPHA:261552
HP:0001507	Growth abnormality	9839	ZEB2	ORPHA:261537
HP:0001507	Growth abnormality	80055	PGAP1	OMIM:615802
HP:0001507	Growth abnormality	10225	CD96	OMIM:211750
HP:0001507	Growth abnormality	10225	CD96	ORPHA:1308
HP:0001507	Growth abnormality	3766	KCNJ10	OMIM:612780
HP:0001507	Growth abnormality	50814	NSDHL	OMIM:308050
HP:0001507	Growth abnormality	3953	LEPR	OMIM:614963
HP:0001507	Growth abnormality	23325	WASHC4	OMIM:615817
HP:0001507	Growth abnormality	6473	SHOX	OMIM:300582
HP:0001507	Growth abnormality	6473	SHOX	ORPHA:314795
HP:0001507	Growth abnormality	57531	HACE1	ORPHA:464282
HP:0001507	Growth abnormality	57531	HACE1	OMIM:616756
HP:0001507	Growth abnormality	55697	VAC14	ORPHA:3472
HP:0001507	Growth abnormality	7156	TOP3A	OMIM:618097
HP:0001507	Growth abnormality	7020	TFAP2A	ORPHA:1297
HP:0001507	Growth abnormality	2903	GRIN2A	OMIM:245570
HP:0001507	Growth abnormality	2903	GRIN2A	ORPHA:289266
HP:0001507	Growth abnormality	5063	PAK3	OMIM:300558
HP:0001507	Growth abnormality	3748	KCNC3	ORPHA:98768
HP:0001507	Growth abnormality	54499	TMCO1	OMIM:213980
HP:0001507	Growth abnormality	54499	TMCO1	ORPHA:1394
HP:0001507	Growth abnormality	10436	EMG1	ORPHA:1270
HP:0001507	Growth abnormality	81887	LAS1L	ORPHA:3459
HP:0001507	Growth abnormality	10661	KLF1	OMIM:613673
HP:0001507	Growth abnormality	57393	CLTRN	ORPHA:2116
HP:0001507	Growth abnormality	170691	ADAMTS17	ORPHA:3449
HP:0001507	Growth abnormality	170691	ADAMTS17	OMIM:613195
HP:0001507	Growth abnormality	55275	VPS53	OMIM:615851
HP:0001507	Growth abnormality	64116	SLC39A8	ORPHA:468699
HP:0001507	Growth abnormality	64116	SLC39A8	OMIM:616721
HP:0001507	Growth abnormality	91252	SLC39A13	OMIM:612350
HP:0001507	Growth abnormality	355	FAS	ORPHA:3437
HP:0001507	Growth abnormality	26191	PTPN22	ORPHA:3437
HP:0001507	Growth abnormality	2245	FGD1	OMIM:305400
HP:0001507	Growth abnormality	2245	FGD1	ORPHA:915
HP:0001507	Growth abnormality	124997	WDR81	OMIM:610185
HP:0001507	Growth abnormality	124997	WDR81	ORPHA:1766
HP:0001507	Growth abnormality	23028	KDM1A	OMIM:616728
HP:0001507	Growth abnormality	55593	OTUD5	OMIM:301056
HP:0001507	Growth abnormality	4854	NOTCH3	OMIM:130720
HP:0001507	Growth abnormality	10982	MAPRE2	OMIM:616734
HP:0001507	Growth abnormality	10982	MAPRE2	ORPHA:2505
HP:0001507	Growth abnormality	2917	GRM7	OMIM:618922
HP:0001507	Growth abnormality	176	ACAN	OMIM:165800
HP:0001507	Growth abnormality	8471	IRS4	OMIM:301035
HP:0001507	Growth abnormality	25	ABL1	OMIM:617602
HP:0001507	Growth abnormality	79415	CYBC1	OMIM:618935
HP:0001507	Growth abnormality	29980	DONSON	OMIM:617604
HP:0001507	Growth abnormality	9343	EFTUD2	ORPHA:79113
HP:0001507	Growth abnormality	9343	EFTUD2	OMIM:610536
HP:0001507	Growth abnormality	23476	BRD4	ORPHA:199
HP:0001507	Growth abnormality	6878	TAF6	ORPHA:199
HP:0001507	Growth abnormality	6878	TAF6	OMIM:617126
HP:0001507	Growth abnormality	157680	VPS13B	ORPHA:193
HP:0001507	Growth abnormality	157680	VPS13B	OMIM:216550
HP:0001507	Growth abnormality	2517	FUCA1	OMIM:230000
HP:0001507	Growth abnormality	9894	TELO2	ORPHA:488642
HP:0001507	Growth abnormality	23247	KATNIP	OMIM:616784
HP:0001507	Growth abnormality	1804	DPP6	ORPHA:2514
HP:0001507	Growth abnormality	1804	DPP6	OMIM:616311
HP:0001507	Growth abnormality	8192	CLPP	OMIM:614129
HP:0001507	Growth abnormality	85378	TUBGCP6	ORPHA:2518
HP:0001507	Growth abnormality	85378	TUBGCP6	OMIM:251270
HP:0001507	Growth abnormality	27229	TUBGCP4	ORPHA:2518
HP:0001507	Growth abnormality	1146	CHRNG	ORPHA:2990
HP:0001507	Growth abnormality	1146	CHRNG	OMIM:265000
HP:0001507	Growth abnormality	9939	RBM8A	OMIM:274000
HP:0001507	Growth abnormality	22931	RAB18	ORPHA:2510
HP:0001507	Growth abnormality	5286	PIK3C2A	ORPHA:557003
HP:0001507	Growth abnormality	5286	PIK3C2A	OMIM:618440
HP:0001507	Growth abnormality	203068	TUBB	ORPHA:2505
HP:0001507	Growth abnormality	10749	KIF1C	ORPHA:397946
HP:0001507	Growth abnormality	104	ADARB1	OMIM:618862
HP:0001507	Growth abnormality	83932	SPRTN	OMIM:616200
HP:0001507	Growth abnormality	2972	BRF1	OMIM:616202
HP:0001507	Growth abnormality	60684	TRAPPC11	OMIM:615356
HP:0001507	Growth abnormality	60684	TRAPPC11	ORPHA:869
HP:0001507	Growth abnormality	10973	ASCC3	OMIM:620700
HP:0001507	Growth abnormality	3703	STT3A	OMIM:619714
HP:0001507	Growth abnormality	64220	STRA6	OMIM:601186
HP:0001507	Growth abnormality	347733	TUBB2B	ORPHA:1766
HP:0001507	Growth abnormality	51761	ATP8A2	ORPHA:1766
HP:0001507	Growth abnormality	767	CA8	ORPHA:1766
HP:0001507	Growth abnormality	3021	H3-3B	OMIM:619721
HP:0001507	Growth abnormality	1644	DDC	ORPHA:35708
HP:0001507	Growth abnormality	55790	CSGALNACT1	OMIM:618870
HP:0001507	Growth abnormality	79639	TMEM53	OMIM:619727
HP:0001507	Growth abnormality	84572	GNPTG	OMIM:252605
HP:0001507	Growth abnormality	716	C1S	ORPHA:75392
HP:0001507	Growth abnormality	2590	GALNT2	OMIM:618885
HP:0001507	Growth abnormality	9698	PUM1	OMIM:620719
HP:0001507	Growth abnormality	9698	PUM1	OMIM:617931
HP:0001507	Growth abnormality	4853	NOTCH2	OMIM:102500
HP:0001507	Growth abnormality	4853	NOTCH2	ORPHA:955
HP:0001507	Growth abnormality	56172	ANKH	OMIM:123000
HP:0001507	Growth abnormality	90993	CREB3L1	OMIM:616229
HP:0001507	Growth abnormality	23761	PISD	OMIM:618889
HP:0001507	Growth abnormality	5442	POLRMT	OMIM:619743
HP:0001507	Growth abnormality	4297	KMT2A	ORPHA:319182
HP:0001507	Growth abnormality	4297	KMT2A	OMIM:605130
HP:0001507	Growth abnormality	833	CARS1	OMIM:618891
HP:0001507	Growth abnormality	55012	PPP2R3C	OMIM:618419
HP:0001507	Growth abnormality	1789	DNMT3B	OMIM:242860
HP:0001507	Growth abnormality	1789	DNMT3B	ORPHA:2268
HP:0001507	Growth abnormality	153241	CEP120	ORPHA:474
HP:0001507	Growth abnormality	57560	IFT80	ORPHA:474
HP:0001507	Growth abnormality	89891	DYNC2I2	ORPHA:474
HP:0001507	Growth abnormality	1947	EFNB1	OMIM:304110
HP:0001507	Growth abnormality	339983	NAT8L	OMIM:614063
HP:0001507	Growth abnormality	3572	IL6ST	OMIM:619750
HP:0001507	Growth abnormality	145258	GSC	OMIM:602471
HP:0001507	Growth abnormality	54928	BPNT2	OMIM:614078
HP:0001507	Growth abnormality	51098	IFT52	OMIM:617102
HP:0001507	Growth abnormality	53335	BCL11A	OMIM:617101
HP:0001507	Growth abnormality	54487	DGCR8	OMIM:192430
HP:0001507	Growth abnormality	8214	DGCR6	OMIM:192430
HP:0001507	Growth abnormality	8220	ESS2	OMIM:192430
HP:0001507	Growth abnormality	9993	DGCR2	OMIM:192430
HP:0001507	Growth abnormality	51651	PTRH2	OMIM:616263
HP:0001507	Growth abnormality	23162	MAPK8IP3	OMIM:618443
HP:0001507	Growth abnormality	249	ALPL	OMIM:241510
HP:0001507	Growth abnormality	85459	CEP295	OMIM:620767
HP:0001507	Growth abnormality	387733	IFITM5	OMIM:610967
HP:0001507	Growth abnormality	26100	WIPI2	OMIM:618453
HP:0001507	Growth abnormality	8295	TRRAP	OMIM:618454
HP:0001507	Growth abnormality	112752	IFT43	OMIM:614099
HP:0001507	Growth abnormality	27145	FILIP1	OMIM:620775
HP:0001507	Growth abnormality	78987	CRELD1	OMIM:620771
HP:0001507	Growth abnormality	6023	RMRP	OMIM:250460
HP:0001507	Growth abnormality	157570	ESCO2	OMIM:216100
HP:0001507	Growth abnormality	6492	SIM1	ORPHA:369873
HP:0001507	Growth abnormality	79879	CCDC134	OMIM:619795
HP:0001507	Growth abnormality	54892	NCAPG2	OMIM:618460
HP:0001507	Growth abnormality	79903	NAA60	OMIM:620786
HP:0001507	Growth abnormality	6650	CAPN15	OMIM:619318
HP:0001507	Growth abnormality	8675	STX16	ORPHA:94089
HP:0001507	Growth abnormality	6548	SLC9A1	OMIM:616291
HP:0001507	Growth abnormality	29998	BICRA	OMIM:619325
HP:0001507	Growth abnormality	23586	RIGI	OMIM:616298
HP:0001507	Growth abnormality	8882	ZPR1	OMIM:619321
HP:0001507	Growth abnormality	55503	TRPV6	ORPHA:417
HP:0001507	Growth abnormality	846	CASR	ORPHA:417
HP:0001507	Growth abnormality	846	CASR	OMIM:601198
HP:0001507	Growth abnormality	1725	DHPS	OMIM:618480
HP:0001507	Growth abnormality	2530	FUT8	OMIM:618005
HP:0001507	Growth abnormality	54496	PRMT7	OMIM:617157
HP:0001507	Growth abnormality	1108	CHD4	OMIM:617159
HP:0001507	Growth abnormality	23389	MED13L	ORPHA:369891
HP:0001507	Growth abnormality	1781	DYNC1I2	OMIM:618492
HP:0001507	Growth abnormality	23592	LEMD3	ORPHA:94063
HP:0001507	Growth abnormality	9509	ADAMTS2	OMIM:225410
HP:0001507	Growth abnormality	372	ARCN1	OMIM:617164
HP:0001507	Growth abnormality	54681	P4HTM	OMIM:618493
HP:0001507	Growth abnormality	79644	SRD5A3	OMIM:612713
HP:0001507	Growth abnormality	9791	PTDSS1	OMIM:151050
HP:0001507	Growth abnormality	29926	GMPPA	ORPHA:869
HP:0001507	Growth abnormality	2077	ERF	OMIM:617180
HP:0001507	Growth abnormality	6299	SALL1	ORPHA:857
HP:0001507	Growth abnormality	51339	DACT1	ORPHA:857
HP:0001507	Growth abnormality	7490	WT1	ORPHA:893
HP:0001507	Growth abnormality	627	BDNF	ORPHA:893
HP:0001507	Growth abnormality	1650	DDOST	ORPHA:300536
HP:0001507	Growth abnormality	7390	UROS	OMIM:263700
HP:0001507	Growth abnormality	2332	FMR1	ORPHA:261483
HP:0001507	Growth abnormality	23154	NCDN	OMIM:619373
HP:0001507	Growth abnormality	11011	TLK2	OMIM:618050
HP:0001507	Growth abnormality	23040	MYT1L	ORPHA:647799
HP:0001507	Growth abnormality	161742	SPRED1	ORPHA:137605
HP:0001507	Growth abnormality	90952	ESAM	OMIM:620371
HP:0001507	Growth abnormality	5144	PDE4D	ORPHA:950
HP:0001507	Growth abnormality	9131	AIFM1	OMIM:300232
HP:0001507	Growth abnormality	347734	SLC35B2	OMIM:620269
HP:0001507	Growth abnormality	345895	RSPH4A	OMIM:612649
HP:0001507	Growth abnormality	8443	GNPAT	OMIM:222765
HP:0001507	Growth abnormality	221421	RSPH9	OMIM:612650
HP:0001507	Growth abnormality	25914	RTTN	OMIM:614833
HP:0001507	Growth abnormality	2911	GRM1	OMIM:614831
HP:0001507	Growth abnormality	6926	TBX3	ORPHA:3138
HP:0001507	Growth abnormality	3899	AFF3	OMIM:619297
HP:0001507	Growth abnormality	5095	PCCA	OMIM:606054
HP:0001507	Growth abnormality	5096	PCCB	OMIM:606054
HP:0001507	Growth abnormality	29128	UHRF1	ORPHA:2268
HP:0001507	Growth abnormality	3070	HELLS	ORPHA:2268
HP:0001507	Growth abnormality	83879	CDCA7	ORPHA:2268
HP:0001507	Growth abnormality	649	BMP1	OMIM:614856
HP:0001507	Growth abnormality	2535	FZD2	ORPHA:3107
HP:0001507	Growth abnormality	6804	STX1A	ORPHA:904
HP:0001507	Growth abnormality	7461	CLIP2	ORPHA:904
HP:0001507	Growth abnormality	84277	DNAJC30	ORPHA:904
HP:0001507	Growth abnormality	8468	FKBP6	ORPHA:904
HP:0001507	Growth abnormality	5982	RFC2	ORPHA:904
HP:0001507	Growth abnormality	2969	GTF2I	ORPHA:904
HP:0001507	Growth abnormality	3984	LIMK1	ORPHA:904
HP:0001507	Growth abnormality	9569	GTF2IRD1	ORPHA:904
HP:0001507	Growth abnormality	155382	VPS37D	ORPHA:904
HP:0001507	Growth abnormality	155368	METTL27	ORPHA:904
HP:0001507	Growth abnormality	114049	BUD23	ORPHA:904
HP:0001507	Growth abnormality	7458	EIF4H	ORPHA:904
HP:0001507	Growth abnormality	84163	GTF2IRD2	ORPHA:904
HP:0001507	Growth abnormality	26608	TBL2	ORPHA:904
HP:0001507	Growth abnormality	653361	NCF1	ORPHA:904
HP:0001507	Growth abnormality	135886	TMEM270	ORPHA:904
HP:0001507	Growth abnormality	9031	BAZ1B	ORPHA:904
HP:0001507	Growth abnormality	6329	SCN4A	ORPHA:99735
HP:0001507	Growth abnormality	6628	SNRPB	ORPHA:1393
HP:0001507	Growth abnormality	9493	KIF23	ORPHA:98870
HP:0001507	Growth abnormality	29127	RACGAP1	ORPHA:98870
HP:0001507	Growth abnormality	23483	TGDS	ORPHA:1388
HP:0001507	Growth abnormality	51199	NIN	ORPHA:319675
HP:0001507	Growth abnormality	4313	MMP2	OMIM:259600
HP:0001507	Growth abnormality	55081	IFT57	OMIM:617927
HP:0001507	Growth abnormality	27152	INTU	OMIM:617926
HP:0001507	Growth abnormality	7507	XPA	ORPHA:910
HP:0001507	Growth abnormality	7508	XPC	ORPHA:910
HP:0001507	Growth abnormality	1643	DDB2	ORPHA:910
HP:0001507	Growth abnormality	54808	DYM	OMIM:607326
HP:0001507	Growth abnormality	4173	MCM4	OMIM:609981
HP:0001507	Growth abnormality	54974	THG1L	OMIM:618800
HP:0001507	Growth abnormality	1292	COL6A2	OMIM:255600
HP:0001507	Growth abnormality	175	AGA	OMIM:208400
HP:0001507	Growth abnormality	116442	RAB39B	OMIM:300271
HP:0001507	Growth abnormality	7874	USP7	ORPHA:500055
HP:0001507	Growth abnormality	55325	UFSP2	OMIM:617974
HP:0001507	Growth abnormality	8087	FXR1	OMIM:618822
HP:0001507	Growth abnormality	5205	ATP8B1	OMIM:211600
HP:0001507	Growth abnormality	285175	UNC80	ORPHA:371364
HP:0001507	Growth abnormality	9918	NCAPD2	OMIM:617983
HP:0001507	Growth abnormality	54870	QRICH1	OMIM:617982
HP:0001507	Growth abnormality	3295	HSD17B4	OMIM:233400
HP:0001507	Growth abnormality	2819	GPD1	OMIM:614480
HP:0001507	Growth abnormality	9203	ZMYM3	OMIM:301111
HP:0001507	Growth abnormality	9130	FAM50A	OMIM:300261
HP:0001507	Growth abnormality	5307	PITX1	OMIM:119800
HP:0001507	Growth abnormality	55135	WRAP53	ORPHA:1775
HP:0001507	Growth abnormality	4869	NPM1	ORPHA:1775
HP:0001507	Growth abnormality	7012	TERC	ORPHA:1775
HP:0001507	Growth abnormality	55505	NOP10	ORPHA:1775
HP:0001507	Growth abnormality	126792	B3GALT6	OMIM:615349
HP:0001507	Growth abnormality	84196	USP48	ORPHA:96253
HP:0001507	Growth abnormality	9101	USP8	ORPHA:96253
HP:0001507	Growth abnormality	2908	NR3C1	ORPHA:96253
HP:0001507	Growth abnormality	540	ATP7B	ORPHA:905
HP:0001507	Growth abnormality	79798	ARMC5	OMIM:615954
HP:0001507	Growth abnormality	79798	ARMC5	ORPHA:189427
HP:0001507	Growth abnormality	7068	THRB	OMIM:274300
HP:0001507	Growth abnormality	84133	ZNRF3	ORPHA:1501
HP:0001507	Growth abnormality	1029	CDKN2A	ORPHA:1501
HP:0001507	Growth abnormality	7319	UBE2A	OMIM:300860
HP:0001507	Growth abnormality	55023	PHIP	ORPHA:589905
HP:0001507	Growth abnormality	3075	CFH	ORPHA:244242
HP:0001507	Growth abnormality	3426	CFI	ORPHA:244242
HP:0001507	Growth abnormality	4179	CD46	ORPHA:244242
HP:0001507	Growth abnormality	101101692	HELLPAR	ORPHA:244242
HP:0001507	Growth abnormality	151648	SGO1	OMIM:616201
HP:0001507	Growth abnormality	10479	SLC9A6	OMIM:300243
HP:0001507	Growth abnormality	50	ACO2	OMIM:614559
HP:0001507	Growth abnormality	3908	LAMA2	ORPHA:258
HP:0001507	Growth abnormality	55249	YY1AP1	OMIM:602531
HP:0001507	Growth abnormality	79868	ALG13	ORPHA:324422
HP:0001507	Growth abnormality	7343	UBTF	OMIM:617672
HP:0001507	Growth abnormality	1760	DMPK	ORPHA:589821
HP:0001507	Growth abnormality	9419	CRIPT	OMIM:615789
HP:0001507	Growth abnormality	55768	NGLY1	OMIM:615273
HP:0001507	Growth abnormality	57003	CCDC47	OMIM:618268
HP:0001507	Growth abnormality	506	ATP5F1B	OMIM:620085
HP:0001507	Growth abnormality	8506	CNTNAP1	OMIM:618186
HP:0001507	Growth abnormality	54832	VPS13C	OMIM:616840
HP:0001507	Growth abnormality	9935	MAFB	ORPHA:2774
HP:0001507	Growth abnormality	10280	SIGMAR1	ORPHA:300605
HP:0001507	Growth abnormality	10558	SPTLC1	ORPHA:300605
HP:0001507	Growth abnormality	3662	IRF4	ORPHA:3452
HP:0001507	Growth abnormality	34	ACADM	ORPHA:42
HP:0001507	Growth abnormality	6240	RRM1	OMIM:620647
HP:0001507	Growth abnormality	256297	PTF1A	OMIM:609069
HP:0001507	Growth abnormality	85465	SELENOI	ORPHA:506353
HP:0001507	Growth abnormality	2625	GATA3	ORPHA:2237
HP:0001507	Growth abnormality	6524	SLC5A2	ORPHA:69076
HP:0001507	Growth abnormality	916	CD3E	ORPHA:169160
HP:0001507	Growth abnormality	9653	HS2ST1	OMIM:619194
HP:0001507	Growth abnormality	4921	DDR2	OMIM:271665
HP:0001507	Growth abnormality	3636	INPPL1	ORPHA:3144
HP:0001507	Growth abnormality	3636	INPPL1	OMIM:258480
HP:0001507	Growth abnormality	23169	SLC35D1	ORPHA:3144
HP:0001507	Growth abnormality	23169	SLC35D1	OMIM:269250
HP:0001507	Growth abnormality	64175	P3H1	OMIM:610915
HP:0001507	Growth abnormality	11014	KDELR2	OMIM:619131
HP:0001507	Growth abnormality	5479	PPIB	OMIM:259440
HP:0001507	Growth abnormality	406932	MIR140	OMIM:618618
HP:0001507	Growth abnormality	3763	KCNJ6	ORPHA:435628
HP:0001507	Growth abnormality	340533	NEXMIF	OMIM:300912
HP:0001507	Growth abnormality	5994	RFXAP	OMIM:620817
HP:0001507	Growth abnormality	3145	HMBS	OMIM:620704
HP:0001507	Growth abnormality	775	CACNA1C	OMIM:620029
HP:0001507	Growth abnormality	6718	AKR1D1	ORPHA:79303
HP:0001507	Growth abnormality	6573	SLC19A1	OMIM:620603
HP:0001507	Growth abnormality	10381	TUBB3	ORPHA:300570
HP:0001507	Growth abnormality	2035	EPB41	ORPHA:288
HP:0001507	Growth abnormality	2995	GYPC	ORPHA:288
HP:0001507	Growth abnormality	1105	CHD1	OMIM:617682
HP:0001507	Growth abnormality	1105	CHD1	ORPHA:529965
HP:0001507	Growth abnormality	790955	UQCC3	OMIM:616111
HP:0001507	Growth abnormality	6399	TRAPPC2	OMIM:313400
HP:0001507	Growth abnormality	57167	SALL4	ORPHA:959
HP:0001507	Growth abnormality	26040	SETBP1	OMIM:269150
HP:0001507	Growth abnormality	2706	GJB2	ORPHA:477
HP:0001507	Growth abnormality	23345	SYNE1	ORPHA:319332
HP:0001507	Growth abnormality	78989	COLEC11	OMIM:265050
HP:0001507	Growth abnormality	78989	COLEC11	ORPHA:293843
HP:0001507	Growth abnormality	55072	RNF31	OMIM:620632
HP:0001507	Growth abnormality	9338	TCEAL1	OMIM:301094
HP:0001507	Growth abnormality	51574	LARP7	ORPHA:319671
HP:0001507	Growth abnormality	6550	SLC9A3	OMIM:616868
HP:0001507	Growth abnormality	1641	DCX	OMIM:300067
HP:0001507	Growth abnormality	5332	PLCB4	OMIM:620458
HP:0001507	Growth abnormality	998	CDC42	ORPHA:487796
HP:0001507	Growth abnormality	54796	BNC2	ORPHA:93110
HP:0001507	Growth abnormality	84665	MYPN	ORPHA:75249
HP:0001507	Growth abnormality	2318	FLNC	ORPHA:75249
HP:0001507	Growth abnormality	7139	TNNT2	ORPHA:75249
HP:0001507	Growth abnormality	7137	TNNI3	ORPHA:75249
HP:0001507	Growth abnormality	10112	KIF20A	ORPHA:75249
HP:0001507	Growth abnormality	139818	DOCK11	OMIM:301109
HP:0001507	Growth abnormality	6137	RPL13	OMIM:618728
HP:0001507	Growth abnormality	383	ARG1	OMIM:207800
HP:0001507	Growth abnormality	6522	SLC4A2	OMIM:620366
HP:0001507	Growth abnormality	10079	ATP9A	OMIM:620242
HP:0001507	Growth abnormality	10586	MAB21L2	OMIM:615877
HP:0001507	Growth abnormality	55764	IFT122	ORPHA:1515
HP:0001507	Growth abnormality	55764	IFT122	OMIM:218330
HP:0001507	Growth abnormality	23387	SIK3	OMIM:618162
HP:0001507	Growth abnormality	1027	CDKN1B	ORPHA:652
HP:0001507	Growth abnormality	1026	CDKN1A	ORPHA:652
HP:0001507	Growth abnormality	1030	CDKN2B	ORPHA:652
HP:0001507	Growth abnormality	1031	CDKN2C	ORPHA:652
HP:0001507	Growth abnormality	5468	PPARG	ORPHA:528
HP:0001507	Growth abnormality	2353	FOS	ORPHA:528
HP:0001507	Growth abnormality	10273	STUB1	ORPHA:412057
HP:0001507	Growth abnormality	10059	DNM1L	ORPHA:330050
HP:0001507	Growth abnormality	3991	LIPE	OMIM:615980
HP:0001507	Growth abnormality	54805	CNNM2	OMIM:616418
HP:0001507	Growth abnormality	84679	SLC9A7	OMIM:301024
HP:0001507	Growth abnormality	55870	ASH1L	OMIM:617796
HP:0001507	Growth abnormality	146862	UNC45B	OMIM:619178
HP:0001507	Growth abnormality	22859	ADGRL1	OMIM:620065
HP:0001507	Growth abnormality	219854	TMEM218	OMIM:619562
HP:0001507	Growth abnormality	3547	IGSF1	OMIM:300888
HP:0001507	Growth abnormality	51341	ZBTB7A	OMIM:619769
HP:0001507	Growth abnormality	51780	KDM3B	OMIM:618846
HP:0001507	Growth abnormality	118856	MMP21	OMIM:616749
HP:0001507	Growth abnormality	152110	NEK10	OMIM:618781
HP:0001507	Growth abnormality	339829	CCDC39	OMIM:613807
HP:0001507	Growth abnormality	54919	DNAAF5	OMIM:614874
HP:0001507	Growth abnormality	100128908	CIROP	OMIM:619702
HP:0001507	Growth abnormality	83538	ODAD4	OMIM:617092
HP:0001507	Growth abnormality	6934	TCF7L2	OMIM:125853
HP:0001507	Growth abnormality	3990	LIPC	OMIM:125853
HP:0001507	Growth abnormality	5506	PPP1R3A	OMIM:125853
HP:0001507	Growth abnormality	169026	SLC30A8	OMIM:125853
HP:0001507	Growth abnormality	2820	GPD2	OMIM:125853
HP:0001507	Growth abnormality	5770	PTPN1	OMIM:125853
HP:0001507	Growth abnormality	8660	IRS2	OMIM:125853
HP:0001507	Growth abnormality	3159	HMGA1	OMIM:125853
HP:0001507	Growth abnormality	3667	IRS1	OMIM:125853
HP:0001507	Growth abnormality	9479	MAPK8IP1	OMIM:125853
HP:0001507	Growth abnormality	4544	MTNR1B	OMIM:125853
HP:0001507	Growth abnormality	56729	RETN	OMIM:125853
HP:0001507	Growth abnormality	10644	IGF2BP2	OMIM:125853
HP:0001507	Growth abnormality	7547	ZIC3	OMIM:314390
HP:0001507	Growth abnormality	1770	DNAH9	OMIM:618300
HP:0001507	Growth abnormality	5290	PIK3CA	ORPHA:140944
HP:0001507	Growth abnormality	284119	CAVIN1	OMIM:613327
HP:0001507	Growth abnormality	11145	PLAAT3	OMIM:620683
HP:0001507	Growth abnormality	83550	GPR101	ORPHA:963
HP:0001507	Growth abnormality	83550	GPR101	OMIM:300942
HP:0001507	Growth abnormality	9049	AIP	ORPHA:963
HP:0001507	Growth abnormality	9049	AIP	OMIM:102200
HP:0001507	Growth abnormality	5130	PCYT1A	OMIM:620680
HP:0001507	Growth abnormality	5921	RASA1	ORPHA:90307
HP:0001507	Growth abnormality	2132	EXT2	ORPHA:321
HP:0001507	Growth abnormality	2887	GRB10	ORPHA:96182
HP:0001507	Growth abnormality	3481	IGF2	ORPHA:231140
HP:0001507	Growth abnormality	3481	IGF2	ORPHA:397590
HP:0001507	Growth abnormality	283120	H19	ORPHA:231140
HP:0001507	Growth abnormality	1028	CDKN1C	ORPHA:397590
HP:0001507	Growth abnormality	5324	PLAG1	ORPHA:397590
HP:0001507	Growth abnormality	8091	HMGA2	ORPHA:397590
HP:0001507	Growth abnormality	2767	GNA11	ORPHA:1556
HP:0001507	Growth abnormality	151188	ARL6IP6	ORPHA:1556
HP:0001507	Growth abnormality	207	AKT1	ORPHA:744
HP:0001507	Growth abnormality	2776	GNAQ	ORPHA:624
HP:0001507	Growth abnormality	55209	SETD5	ORPHA:404440
HP:0001507	Growth abnormality	55209	SETD5	OMIM:615761
HP:0001507	Growth abnormality	3110	MNX1	ORPHA:1552
HP:0001507	Growth abnormality	5718	PSMD12	ORPHA:529962
HP:0008909	Lethal short-limbed short stature	2261	FGFR3	OMIM:187601
HP:0008909	Lethal short-limbed short stature	2261	FGFR3	ORPHA:1860
HP:0008909	Lethal short-limbed short stature	2261	FGFR3	OMIM:187600
HP:0008922	Childhood-onset short-trunk short stature	59341	TRPV4	OMIM:113500
HP:0003521	Disproportionate short-trunk short stature	54808	DYM	OMIM:223800
HP:0003521	Disproportionate short-trunk short stature	54808	DYM	OMIM:607326
HP:0003521	Disproportionate short-trunk short stature	54808	DYM	ORPHA:239
HP:0003521	Disproportionate short-trunk short stature	9321	TRIP11	OMIM:200600
HP:0003521	Disproportionate short-trunk short stature	59341	TRPV4	OMIM:184252
HP:0003521	Disproportionate short-trunk short stature	59341	TRPV4	ORPHA:93314
HP:0003521	Disproportionate short-trunk short stature	59341	TRPV4	OMIM:156530
HP:0003521	Disproportionate short-trunk short stature	6399	TRAPPC2	ORPHA:93284
HP:0003521	Disproportionate short-trunk short stature	6399	TRAPPC2	OMIM:313400
HP:0003521	Disproportionate short-trunk short stature	153642	ARSK	OMIM:619698
HP:0003521	Disproportionate short-trunk short stature	9469	CHST3	ORPHA:263463
HP:0003521	Disproportionate short-trunk short stature	579	NKX3-2	OMIM:613330
HP:0003521	Disproportionate short-trunk short stature	89970	RSPRY1	ORPHA:457395
HP:0003521	Disproportionate short-trunk short stature	2588	GALNS	OMIM:253000
HP:0003521	Disproportionate short-trunk short stature	2335	FN1	ORPHA:93315
HP:0003521	Disproportionate short-trunk short stature	1280	COL2A1	ORPHA:93315
HP:0003521	Disproportionate short-trunk short stature	1280	COL2A1	ORPHA:93316
HP:0003521	Disproportionate short-trunk short stature	1280	COL2A1	ORPHA:94068
HP:0003521	Disproportionate short-trunk short stature	1280	COL2A1	ORPHA:485
HP:0003521	Disproportionate short-trunk short stature	1280	COL2A1	OMIM:200610
HP:0003521	Disproportionate short-trunk short stature	1280	COL2A1	OMIM:156550
HP:0003521	Disproportionate short-trunk short stature	755	CFAP410	OMIM:602271
HP:0003521	Disproportionate short-trunk short stature	2317	FLNB	OMIM:272460
HP:0003521	Disproportionate short-trunk short stature	411	ARSB	OMIM:253200
HP:0003521	Disproportionate short-trunk short stature	633	BGN	OMIM:300106
HP:0003521	Disproportionate short-trunk short stature	83452	RAB33B	OMIM:615222
HP:0003521	Disproportionate short-trunk short stature	2720	GLB1	OMIM:253010
HP:0003521	Disproportionate short-trunk short stature	50485	SMARCAL1	ORPHA:1830
HP:0003521	Disproportionate short-trunk short stature	50485	SMARCAL1	OMIM:242900
HP:0003521	Disproportionate short-trunk short stature	64132	XYLT2	ORPHA:85194
HP:0003521	Disproportionate short-trunk short stature	6911	TBX6	OMIM:122600
HP:0003521	Disproportionate short-trunk short stature	145873	MESP2	OMIM:277300
HP:0003521	Disproportionate short-trunk short stature	145873	MESP2	OMIM:608681
HP:0003521	Disproportionate short-trunk short stature	10683	DLL3	OMIM:277300
HP:0003521	Disproportionate short-trunk short stature	54	ACP5	ORPHA:1855
HP:0003521	Disproportionate short-trunk short stature	168667	BMPER	OMIM:608022
HP:0003521	Disproportionate short-trunk short stature	3835	KIF22	ORPHA:93360
HP:0003521	Disproportionate short-trunk short stature	8838	CCN6	ORPHA:1159
HP:0003521	Disproportionate short-trunk short stature	22827	PUF60	ORPHA:508488
HP:0003521	Disproportionate short-trunk short stature	2972	BRF1	ORPHA:444072
HP:0031800	Elevated circulating apolipoprotein A-II concentration	19	ABCA1	OMIM:205400
HP:0031800	Elevated circulating apolipoprotein A-II concentration	4023	LPL	OMIM:144250
HP:0031801	Vocal cord dysfunction	9361	LONP1	OMIM:600373
HP:0031801	Vocal cord dysfunction	54332	GDAP1	OMIM:607706
HP:0031801	Vocal cord dysfunction	54332	GDAP1	ORPHA:99948
HP:0031801	Vocal cord dysfunction	54332	GDAP1	ORPHA:101097
HP:0031801	Vocal cord dysfunction	182	JAG1	OMIM:619574
HP:0031801	Vocal cord dysfunction	57716	PRX	OMIM:614895
HP:0031801	Vocal cord dysfunction	59341	TRPV4	OMIM:606071
HP:0031801	Vocal cord dysfunction	79628	SH3TC2	ORPHA:99949
HP:0031801	Vocal cord dysfunction	353116	RILPL1	ORPHA:98897
HP:0031801	Vocal cord dysfunction	10755	GIPC1	ORPHA:98897
HP:0031801	Vocal cord dysfunction	29967	LRP12	ORPHA:98897
HP:0031801	Vocal cord dysfunction	100996717	NOTCH2NLC	ORPHA:98897
HP:0031801	Vocal cord dysfunction	5376	PMP22	OMIM:162500
HP:0031801	Vocal cord dysfunction	5376	PMP22	ORPHA:640
HP:0031801	Vocal cord dysfunction	7125	TNNC2	OMIM:620161
HP:0031801	Vocal cord dysfunction	9997	SCO2	OMIM:604377
HP:0031801	Vocal cord dysfunction	60482	SLC5A7	OMIM:158580
HP:0031801	Vocal cord dysfunction	79784	MYH14	ORPHA:397744
HP:0031801	Vocal cord dysfunction	23321	TRIM2	OMIM:615490
HP:0031801	Vocal cord dysfunction	112	ADCY6	OMIM:616287
HP:0031801	Vocal cord dysfunction	25885	POLR1A	OMIM:616462
HP:0031801	Vocal cord dysfunction	22943	DKK1	ORPHA:268882
HP:0031801	Vocal cord dysfunction	816	CAMK2B	OMIM:617799
HP:0031801	Vocal cord dysfunction	7428	VHL	ORPHA:29072
HP:0031801	Vocal cord dysfunction	7428	VHL	ORPHA:276621
HP:0031801	Vocal cord dysfunction	1743	DLST	ORPHA:29072
HP:0031801	Vocal cord dysfunction	4191	MDH2	ORPHA:29072
HP:0031801	Vocal cord dysfunction	5979	RET	ORPHA:29072
HP:0031801	Vocal cord dysfunction	5979	RET	ORPHA:276621
HP:0031801	Vocal cord dysfunction	6389	SDHA	ORPHA:29072
HP:0031801	Vocal cord dysfunction	23095	KIF1B	ORPHA:29072
HP:0031801	Vocal cord dysfunction	2271	FH	ORPHA:29072
HP:0031801	Vocal cord dysfunction	8402	SLC25A11	ORPHA:29072
HP:0031801	Vocal cord dysfunction	54949	SDHAF2	ORPHA:29072
HP:0031801	Vocal cord dysfunction	54949	SDHAF2	OMIM:601650
HP:0031801	Vocal cord dysfunction	55654	TMEM127	ORPHA:29072
HP:0031801	Vocal cord dysfunction	4763	NF1	ORPHA:29072
HP:0031801	Vocal cord dysfunction	6391	SDHC	ORPHA:29072
HP:0031801	Vocal cord dysfunction	6391	SDHC	OMIM:605373
HP:0031801	Vocal cord dysfunction	6392	SDHD	ORPHA:29072
HP:0031801	Vocal cord dysfunction	6392	SDHD	ORPHA:276621
HP:0031801	Vocal cord dysfunction	6392	SDHD	OMIM:168000
HP:0031801	Vocal cord dysfunction	6390	SDHB	ORPHA:29072
HP:0031801	Vocal cord dysfunction	6390	SDHB	ORPHA:276621
HP:0031801	Vocal cord dysfunction	4149	MAX	ORPHA:29072
HP:0031801	Vocal cord dysfunction	1639	DCTN1	OMIM:607641
HP:0031801	Vocal cord dysfunction	1788	DNMT3A	ORPHA:276621
HP:0031801	Vocal cord dysfunction	2034	EPAS1	ORPHA:276621
HP:0031801	Vocal cord dysfunction	81846	SBF2	ORPHA:99956
HP:0031801	Vocal cord dysfunction	4287	ATXN3	ORPHA:276244
HP:0031801	Vocal cord dysfunction	4287	ATXN3	ORPHA:276241
HP:0031801	Vocal cord dysfunction	4287	ATXN3	ORPHA:276238
HP:0031801	Vocal cord dysfunction	2273	FHL1	ORPHA:98863
HP:0031801	Vocal cord dysfunction	2010	EMD	ORPHA:98863
HP:0031801	Vocal cord dysfunction	51112	TRAPPC12	ORPHA:500144
HP:0031801	Vocal cord dysfunction	374879	ZNF699	OMIM:619488
HP:0031801	Vocal cord dysfunction	4613	MYCN	OMIM:164280
HP:0031801	Vocal cord dysfunction	113278	SLC52A3	OMIM:211530
HP:0031801	Vocal cord dysfunction	9927	MFN2	ORPHA:99947
HP:0031801	Vocal cord dysfunction	2006	ELN	OMIM:194050
HP:0031801	Vocal cord dysfunction	51085	MLXIPL	OMIM:194050
HP:0031801	Vocal cord dysfunction	26040	SETBP1	ORPHA:798
HP:0031801	Vocal cord dysfunction	79188	TMEM43	ORPHA:98853
HP:0031801	Vocal cord dysfunction	23345	SYNE1	ORPHA:98853
HP:0031801	Vocal cord dysfunction	23224	SYNE2	ORPHA:98853
HP:0031801	Vocal cord dysfunction	4000	LMNA	ORPHA:98853
HP:0031801	Vocal cord dysfunction	9782	MATR3	ORPHA:600
HP:0031801	Vocal cord dysfunction	5422	POLA1	OMIM:301030
HP:0031801	Vocal cord dysfunction	23498	HAAO	OMIM:617660
HP:0031801	Vocal cord dysfunction	667	DST	OMIM:614653
HP:0031803	Fundus hemorrhage	2639	GCDH	ORPHA:25
HP:0031803	Fundus hemorrhage	3458	IFNG	ORPHA:88
HP:0031803	Fundus hemorrhage	5551	PRF1	ORPHA:88
HP:0031803	Fundus hemorrhage	7012	TERC	ORPHA:88
HP:0031803	Fundus hemorrhage	51119	SBDS	ORPHA:88
HP:0031803	Fundus hemorrhage	7015	TERT	ORPHA:88
HP:0031803	Fundus hemorrhage	11277	TREX1	OMIM:192315
HP:0031803	Fundus hemorrhage	5167	ENPP1	ORPHA:51608
HP:0031803	Fundus hemorrhage	5167	ENPP1	ORPHA:758
HP:0031803	Fundus hemorrhage	368	ABCC6	ORPHA:51608
HP:0031803	Fundus hemorrhage	368	ABCC6	OMIM:177850
HP:0031803	Fundus hemorrhage	368	ABCC6	OMIM:264800
HP:0031803	Fundus hemorrhage	368	ABCC6	ORPHA:758
HP:0031803	Fundus hemorrhage	1161	ERCC8	ORPHA:90324
HP:0031803	Fundus hemorrhage	2074	ERCC6	ORPHA:90324
HP:0031803	Fundus hemorrhage	1282	COL4A1	OMIM:611773
HP:0031803	Fundus hemorrhage	1282	COL4A1	OMIM:175780
HP:0031803	Fundus hemorrhage	1282	COL4A1	OMIM:180000
HP:0031803	Fundus hemorrhage	3913	LAMB2	OMIM:609049
HP:0031803	Fundus hemorrhage	8517	IKBKG	ORPHA:464
HP:0031803	Fundus hemorrhage	8517	IKBKG	OMIM:308300
HP:0031803	Fundus hemorrhage	4615	MYD88	ORPHA:33226
HP:0031803	Fundus hemorrhage	64131	XYLT1	OMIM:264800
HP:0031803	Fundus hemorrhage	64132	XYLT2	OMIM:264800
HP:0031803	Fundus hemorrhage	1785	DNM2	OMIM:615368
HP:0031803	Fundus hemorrhage	667	DST	OMIM:614653
HP:0031803	Fundus hemorrhage	90952	ESAM	OMIM:620371
HP:0031803	Fundus hemorrhage	23545	ATP6V0A2	ORPHA:357074
HP:0031803	Fundus hemorrhage	523	ATP6V1A	ORPHA:357074
HP:0031803	Fundus hemorrhage	529	ATP6V1E1	ORPHA:357074
HP:0031803	Fundus hemorrhage	2202	EFEMP1	ORPHA:75376
HP:0031803	Fundus hemorrhage	3075	CFH	ORPHA:75376
HP:0031803	Fundus hemorrhage	3426	CFI	ORPHA:75376
HP:0031803	Fundus hemorrhage	348	APOE	OMIM:603075
HP:0031803	Fundus hemorrhage	10878	CFHR3	OMIM:603075
HP:0031803	Fundus hemorrhage	83872	HMCN1	OMIM:603075
HP:0031803	Fundus hemorrhage	3078	CFHR1	OMIM:603075
HP:0031806	Abnormal basophil count	171023	ASXL1	ORPHA:98849
HP:0031806	Abnormal basophil count	54790	TET2	ORPHA:98849
HP:0031806	Abnormal basophil count	3815	KIT	ORPHA:98849
HP:0031806	Abnormal basophil count	6427	SRSF2	ORPHA:98849
HP:0031806	Abnormal basophil count	60468	BACH2	OMIM:618394
HP:0031807	Increased basophil count	171023	ASXL1	ORPHA:98849
HP:0031807	Increased basophil count	54790	TET2	ORPHA:98849
HP:0031807	Increased basophil count	3815	KIT	ORPHA:98849
HP:0031807	Increased basophil count	6427	SRSF2	ORPHA:98849
HP:0031808	Decreased basophil count	60468	BACH2	OMIM:618394
HP:0009063	Progressive distal muscle weakness	79784	MYH14	ORPHA:397744
HP:0009063	Progressive distal muscle weakness	55958	KLHL9	ORPHA:399081
HP:0009063	Progressive distal muscle weakness	57104	PNPLA2	ORPHA:98908
HP:0009063	Progressive distal muscle weakness	1410	CRYAB	ORPHA:399058
HP:0009063	Progressive distal muscle weakness	4703	NEB	ORPHA:399103
HP:0009063	Progressive distal muscle weakness	859	CAV3	ORPHA:488650
HP:0009063	Progressive distal muscle weakness	3032	HADHB	ORPHA:746
HP:0009063	Progressive distal muscle weakness	3030	HADHA	ORPHA:746
HP:0009063	Progressive distal muscle weakness	1180	CLCN1	ORPHA:614
HP:0009063	Progressive distal muscle weakness	9499	MYOT	ORPHA:98911
HP:0009063	Progressive distal muscle weakness	9499	MYOT	OMIM:609200
HP:0009063	Progressive distal muscle weakness	59341	TRPV4	OMIM:181405
HP:0009063	Progressive distal muscle weakness	353116	RILPL1	ORPHA:98897
HP:0009063	Progressive distal muscle weakness	10755	GIPC1	ORPHA:98897
HP:0009063	Progressive distal muscle weakness	29967	LRP12	ORPHA:98897
HP:0009063	Progressive distal muscle weakness	100996717	NOTCH2NLC	ORPHA:98897
HP:0009063	Progressive distal muscle weakness	11155	LDB3	OMIM:609452
HP:0009130	Hand muscle atrophy	2617	GARS1	OMIM:600794
HP:0009130	Hand muscle atrophy	2617	GARS1	ORPHA:139536
HP:0009130	Hand muscle atrophy	2617	GARS1	OMIM:601472
HP:0009130	Hand muscle atrophy	65055	REEP1	ORPHA:139536
HP:0009130	Hand muscle atrophy	65055	REEP1	OMIM:614751
HP:0009130	Hand muscle atrophy	4703	NEB	OMIM:256030
HP:0009130	Hand muscle atrophy	1311	COMP	OMIM:619161
HP:0009130	Hand muscle atrophy	91252	SLC39A13	ORPHA:157965
HP:0009130	Hand muscle atrophy	91252	SLC39A13	OMIM:612350
HP:0009130	Hand muscle atrophy	8985	PLOD3	OMIM:612394
HP:0009130	Hand muscle atrophy	8884	SLC5A6	OMIM:619903
HP:0009130	Hand muscle atrophy	5165	PDK3	ORPHA:352675
HP:0009130	Hand muscle atrophy	3710	ITPR3	OMIM:620111
HP:0009130	Hand muscle atrophy	3425	IDUA	OMIM:607015
HP:0009130	Hand muscle atrophy	9898	UBAP2L	OMIM:620494
HP:0009130	Hand muscle atrophy	80208	SPG11	OMIM:604360
HP:0009130	Hand muscle atrophy	8729	GBF1	OMIM:606483
HP:0009130	Hand muscle atrophy	55768	NGLY1	OMIM:615273
HP:0009130	Hand muscle atrophy	23321	TRIM2	OMIM:615490
HP:0009130	Hand muscle atrophy	182	JAG1	OMIM:619574
HP:0009130	Hand muscle atrophy	8988	HSPB3	OMIM:613376
HP:0009130	Hand muscle atrophy	22880	MORC2	OMIM:616688
HP:0009130	Hand muscle atrophy	859	CAV3	OMIM:614321
HP:0009130	Hand muscle atrophy	859	CAV3	ORPHA:488650
HP:0009130	Hand muscle atrophy	4358	MPV17	OMIM:256810
HP:0009130	Hand muscle atrophy	2318	FLNC	ORPHA:63273
HP:0009130	Hand muscle atrophy	374969	SVBP	OMIM:618569
HP:0009130	Hand muscle atrophy	8878	SQSTM1	ORPHA:603
HP:0009130	Hand muscle atrophy	7072	TIA1	ORPHA:603
HP:0009130	Hand muscle atrophy	9990	SLC12A6	OMIM:620068
HP:0009130	Hand muscle atrophy	10558	SPTLC1	OMIM:620285
HP:0009130	Hand muscle atrophy	1678	TIMM8A	OMIM:304700
HP:0009130	Hand muscle atrophy	6261	RYR1	ORPHA:178145
HP:0009130	Hand muscle atrophy	55958	KLHL9	ORPHA:399081
HP:0009130	Hand muscle atrophy	8291	DYSF	ORPHA:178400
HP:0009130	Hand muscle atrophy	8291	DYSF	ORPHA:45448
HP:0009130	Hand muscle atrophy	547	KIF1A	OMIM:614213
HP:0009130	Hand muscle atrophy	57716	PRX	OMIM:614895
HP:0009130	Hand muscle atrophy	3035	HARS1	ORPHA:488333
HP:0009130	Hand muscle atrophy	400916	CHCHD10	ORPHA:276435
HP:0009130	Hand muscle atrophy	11155	LDB3	ORPHA:98912
HP:0009130	Hand muscle atrophy	4359	MPZ	ORPHA:3115
HP:0009130	Hand muscle atrophy	1134	CHRNA1	OMIM:601462
HP:0009130	Hand muscle atrophy	9997	SCO2	OMIM:604377
HP:0009130	Hand muscle atrophy	4141	MARS1	OMIM:616280
HP:0009130	Hand muscle atrophy	284058	KANSL1	ORPHA:363965
HP:0009130	Hand muscle atrophy	284058	KANSL1	ORPHA:363958
HP:0009130	Hand muscle atrophy	3094	HINT1	ORPHA:324442
HP:0009130	Hand muscle atrophy	26580	BSCL2	ORPHA:100998
HP:0009130	Hand muscle atrophy	57679	ALS2	OMIM:205100
HP:0009130	Hand muscle atrophy	7415	VCP	ORPHA:435387
HP:0009130	Hand muscle atrophy	59341	TRPV4	OMIM:606071
HP:0009130	Hand muscle atrophy	58	ACTA1	OMIM:616852
HP:0009130	Hand muscle atrophy	10342	TFG	OMIM:615658
HP:0009130	Hand muscle atrophy	5376	PMP22	ORPHA:90658
HP:0009130	Hand muscle atrophy	89874	SLC25A21	OMIM:618811
HP:0009130	Hand muscle atrophy	170689	ADAMTS15	OMIM:620545
HP:0009130	Hand muscle atrophy	54332	GDAP1	ORPHA:99944
HP:0009130	Hand muscle atrophy	1639	DCTN1	OMIM:607641
HP:0009130	Hand muscle atrophy	4000	LMNA	ORPHA:98856
HP:0009130	Hand muscle atrophy	4747	NEFL	OMIM:607684
HP:0009130	Hand muscle atrophy	4747	NEFL	ORPHA:101085
HP:0009130	Hand muscle atrophy	113278	SLC52A3	OMIM:211530
HP:0009130	Hand muscle atrophy	2395	FXN	ORPHA:95
HP:0008935	Generalized neonatal hypotonia	8802	SUCLG1	OMIM:245400
HP:0008935	Generalized neonatal hypotonia	25839	COG4	ORPHA:263501
HP:0008935	Generalized neonatal hypotonia	4524	MTHFR	ORPHA:395
HP:0008935	Generalized neonatal hypotonia	23394	ADNP	ORPHA:404448
HP:0008935	Generalized neonatal hypotonia	9896	FIG4	ORPHA:3472
HP:0008935	Generalized neonatal hypotonia	55697	VAC14	ORPHA:3472
HP:0008935	Generalized neonatal hypotonia	4204	MECP2	ORPHA:209370
HP:0008935	Generalized neonatal hypotonia	1917	EEF1A2	OMIM:616393
HP:0008935	Generalized neonatal hypotonia	5718	PSMD12	ORPHA:529962
HP:0008935	Generalized neonatal hypotonia	2186	BPTF	ORPHA:529962
HP:0008935	Generalized neonatal hypotonia	4576	MT-TT	ORPHA:254857
HP:0008935	Generalized neonatal hypotonia	5192	PEX10	OMIM:614870
HP:0008935	Generalized neonatal hypotonia	5190	PEX6	OMIM:614862
HP:0008935	Generalized neonatal hypotonia	57465	TBC1D24	ORPHA:352596
HP:0008935	Generalized neonatal hypotonia	8504	PEX3	OMIM:614882
HP:0008935	Generalized neonatal hypotonia	9968	MED12	ORPHA:93932
HP:0008935	Generalized neonatal hypotonia	55670	PEX26	OMIM:614872
HP:0008935	Generalized neonatal hypotonia	54332	GDAP1	ORPHA:99948
HP:0008935	Generalized neonatal hypotonia	3708	ITPR1	OMIM:117360
HP:0008935	Generalized neonatal hypotonia	9409	PEX16	OMIM:614876
HP:0008935	Generalized neonatal hypotonia	5193	PEX12	OMIM:614859
HP:0008935	Generalized neonatal hypotonia	492	ATP2B3	ORPHA:314978
HP:0008935	Generalized neonatal hypotonia	23345	SYNE1	ORPHA:319332
HP:0008936	Axial hypotonia	2137	EXTL3	ORPHA:508533
HP:0008936	Axial hypotonia	2137	EXTL3	OMIM:617425
HP:0008936	Axial hypotonia	5138	PDE2A	OMIM:619150
HP:0008936	Axial hypotonia	6535	SLC6A8	OMIM:300352
HP:0008936	Axial hypotonia	8367	H4C5	OMIM:619950
HP:0008936	Axial hypotonia	104	ADARB1	OMIM:618862
HP:0008936	Axial hypotonia	340533	NEXMIF	OMIM:300912
HP:0008936	Axial hypotonia	9853	RUSC2	OMIM:617773
HP:0008936	Axial hypotonia	5393	EXOSC9	OMIM:618065
HP:0008936	Axial hypotonia	55823	VPS11	OMIM:616683
HP:0008936	Axial hypotonia	3145	HMBS	OMIM:620704
HP:0008936	Axial hypotonia	6659	SOX4	OMIM:618506
HP:0008936	Axial hypotonia	10059	DNM1L	OMIM:614388
HP:0008936	Axial hypotonia	7355	SLC35A2	ORPHA:356961
HP:0008936	Axial hypotonia	775	CACNA1C	OMIM:620029
HP:0008936	Axial hypotonia	9254	CACNA2D2	OMIM:618501
HP:0008936	Axial hypotonia	10973	ASCC3	OMIM:620700
HP:0008936	Axial hypotonia	7360	UGP2	OMIM:618744
HP:0008936	Axial hypotonia	347734	SLC35B2	OMIM:620269
HP:0008936	Axial hypotonia	781	CACNA2D1	OMIM:620149
HP:0008936	Axial hypotonia	84942	WDR73	OMIM:251300
HP:0008936	Axial hypotonia	51343	FZR1	OMIM:620145
HP:0008936	Axial hypotonia	80222	TARS2	OMIM:615918
HP:0008936	Axial hypotonia	1161	ERCC8	ORPHA:90322
HP:0008936	Axial hypotonia	2067	ERCC1	ORPHA:90322
HP:0008936	Axial hypotonia	2074	ERCC6	ORPHA:90322
HP:0008936	Axial hypotonia	2074	ERCC6	OMIM:214150
HP:0008936	Axial hypotonia	57165	GJC2	OMIM:608804
HP:0008936	Axial hypotonia	6531	SLC6A3	ORPHA:238455
HP:0008936	Axial hypotonia	6531	SLC6A3	OMIM:613135
HP:0008936	Axial hypotonia	51112	TRAPPC12	ORPHA:500144
HP:0008936	Axial hypotonia	51112	TRAPPC12	OMIM:617669
HP:0008936	Axial hypotonia	6341	SCO1	OMIM:619048
HP:0008936	Axial hypotonia	6536	SLC6A9	OMIM:617301
HP:0008936	Axial hypotonia	89910	UBE3B	OMIM:244450
HP:0008936	Axial hypotonia	51741	WWOX	OMIM:616211
HP:0008936	Axial hypotonia	51506	UFC1	OMIM:618076
HP:0008936	Axial hypotonia	387787	LIPT2	OMIM:617668
HP:0008936	Axial hypotonia	4010	LMX1B	ORPHA:495818
HP:0008936	Axial hypotonia	6812	STXBP1	ORPHA:495818
HP:0008936	Axial hypotonia	166378	AFG2A	OMIM:616577
HP:0008936	Axial hypotonia	79947	DHDDS	OMIM:613861
HP:0008936	Axial hypotonia	375387	NRROS	OMIM:618875
HP:0008936	Axial hypotonia	10565	ARFGEF1	OMIM:619964
HP:0008936	Axial hypotonia	80055	PGAP1	OMIM:615802
HP:0008936	Axial hypotonia	16	AARS1	OMIM:616339
HP:0008936	Axial hypotonia	55163	PNPO	ORPHA:79096
HP:0008936	Axial hypotonia	55163	PNPO	OMIM:610090
HP:0008936	Axial hypotonia	10381	TUBB3	OMIM:614039
HP:0008936	Axial hypotonia	2911	GRM1	OMIM:614831
HP:0008936	Axial hypotonia	57582	KCNT1	OMIM:614959
HP:0008936	Axial hypotonia	10978	CLP1	OMIM:615803
HP:0008936	Axial hypotonia	79158	GNPTAB	OMIM:252500
HP:0008936	Axial hypotonia	79158	GNPTAB	ORPHA:576
HP:0008936	Axial hypotonia	271	AMPD2	OMIM:615809
HP:0008936	Axial hypotonia	63908	NAPB	OMIM:620033
HP:0008936	Axial hypotonia	87178	PNPT1	ORPHA:319514
HP:0008936	Axial hypotonia	87178	PNPT1	OMIM:614932
HP:0008936	Axial hypotonia	1185	CLCN6	OMIM:619173
HP:0008936	Axial hypotonia	7054	TH	OMIM:605407
HP:0008936	Axial hypotonia	25839	COG4	ORPHA:263501
HP:0008936	Axial hypotonia	25839	COG4	OMIM:613489
HP:0008936	Axial hypotonia	3735	KARS1	ORPHA:3240
HP:0008936	Axial hypotonia	4718	NDUFC2	OMIM:619170
HP:0008936	Axial hypotonia	4001	LMNB1	OMIM:619179
HP:0008936	Axial hypotonia	55870	ASH1L	OMIM:617796
HP:0008936	Axial hypotonia	9698	PUM1	OMIM:620719
HP:0008936	Axial hypotonia	8913	CACNA1G	OMIM:618087
HP:0008936	Axial hypotonia	6844	VAMP2	OMIM:618760
HP:0008936	Axial hypotonia	5119	CHMP1A	OMIM:614961
HP:0008936	Axial hypotonia	816	CAMK2B	OMIM:617799
HP:0008936	Axial hypotonia	3064	HTT	OMIM:617435
HP:0008936	Axial hypotonia	5631	PRPS1	ORPHA:1187
HP:0008936	Axial hypotonia	5631	PRPS1	ORPHA:423479
HP:0008936	Axial hypotonia	8398	PLA2G6	ORPHA:35069
HP:0008936	Axial hypotonia	9570	GOSR2	OMIM:620166
HP:0008936	Axial hypotonia	5095	PCCA	OMIM:606054
HP:0008936	Axial hypotonia	5096	PCCB	OMIM:606054
HP:0008936	Axial hypotonia	8802	SUCLG1	OMIM:245400
HP:0008936	Axial hypotonia	57531	HACE1	ORPHA:464282
HP:0008936	Axial hypotonia	171023	ASXL1	ORPHA:97297
HP:0008936	Axial hypotonia	10087	CERT1	OMIM:616351
HP:0008936	Axial hypotonia	1656	DDX6	OMIM:618653
HP:0008936	Axial hypotonia	25930	PTPN23	OMIM:618890
HP:0008936	Axial hypotonia	23327	NEDD4L	OMIM:617201
HP:0008936	Axial hypotonia	132158	GLYCTK	OMIM:220120
HP:0008936	Axial hypotonia	6663	SOX10	OMIM:611584
HP:0008936	Axial hypotonia	55361	PI4K2A	OMIM:620732
HP:0008936	Axial hypotonia	10382	TUBB4A	OMIM:612438
HP:0008936	Axial hypotonia	1499	CTNNB1	ORPHA:404473
HP:0008936	Axial hypotonia	2615	LRRC32	OMIM:619074
HP:0008936	Axial hypotonia	4204	MECP2	OMIM:300673
HP:0008936	Axial hypotonia	4204	MECP2	OMIM:300055
HP:0008936	Axial hypotonia	4204	MECP2	OMIM:300260
HP:0008936	Axial hypotonia	253738	EBF3	OMIM:617330
HP:0008936	Axial hypotonia	6905	TBCE	OMIM:241410
HP:0008936	Axial hypotonia	11154	AP4S1	OMIM:614067
HP:0008936	Axial hypotonia	23126	POGZ	OMIM:616364
HP:0008936	Axial hypotonia	27089	UQCRQ	OMIM:615159
HP:0008936	Axial hypotonia	56006	SMG9	OMIM:616920
HP:0008936	Axial hypotonia	9255	AIMP1	OMIM:260600
HP:0008936	Axial hypotonia	1660	DHX9	OMIM:620988
HP:0008936	Axial hypotonia	57282	SLC4A10	OMIM:620746
HP:0008936	Axial hypotonia	116115	ZNF526	OMIM:619877
HP:0008936	Axial hypotonia	7701	ZNF142	OMIM:618425
HP:0008936	Axial hypotonia	3098	HK1	OMIM:618547
HP:0008936	Axial hypotonia	10846	PDE10A	OMIM:616921
HP:0008936	Axial hypotonia	10846	PDE10A	ORPHA:494526
HP:0008936	Axial hypotonia	25977	NECAP1	OMIM:615833
HP:0008936	Axial hypotonia	10290	SPEG	OMIM:615959
HP:0008936	Axial hypotonia	90624	LYRM7	OMIM:615838
HP:0008936	Axial hypotonia	10056	FARSB	OMIM:613658
HP:0008936	Axial hypotonia	5354	PLP1	ORPHA:280219
HP:0008936	Axial hypotonia	80704	SLC19A3	OMIM:607483
HP:0008936	Axial hypotonia	84992	PIGY	OMIM:616809
HP:0008936	Axial hypotonia	93986	FOXP2	ORPHA:251061
HP:0008936	Axial hypotonia	111	ADCY5	OMIM:606703
HP:0008936	Axial hypotonia	111	ADCY5	OMIM:619647
HP:0008936	Axial hypotonia	111	ADCY5	ORPHA:324588
HP:0008936	Axial hypotonia	111	ADCY5	OMIM:619651
HP:0008936	Axial hypotonia	5700	PSMC1	OMIM:620071
HP:0008936	Axial hypotonia	55210	ATAD3A	ORPHA:496790
HP:0008936	Axial hypotonia	55210	ATAD3A	OMIM:617183
HP:0008936	Axial hypotonia	3785	KCNQ2	ORPHA:1949
HP:0008936	Axial hypotonia	3786	KCNQ3	ORPHA:1949
HP:0008936	Axial hypotonia	1615	DARS1	OMIM:615281
HP:0008936	Axial hypotonia	2232	FDXR	ORPHA:543470
HP:0008936	Axial hypotonia	7358	UGDH	OMIM:618792
HP:0008936	Axial hypotonia	10991	SLC38A3	OMIM:619881
HP:0008936	Axial hypotonia	2904	GRIN2B	OMIM:616139
HP:0008936	Axial hypotonia	6506	SLC1A2	OMIM:617105
HP:0008936	Axial hypotonia	23261	CAMTA1	OMIM:614756
HP:0008936	Axial hypotonia	64135	IFIH1	OMIM:615846
HP:0008936	Axial hypotonia	64135	IFIH1	ORPHA:51
HP:0008936	Axial hypotonia	25973	PARS2	OMIM:618437
HP:0008936	Axial hypotonia	9562	MINPP1	OMIM:619527
HP:0008936	Axial hypotonia	11261	CHP1	OMIM:618438
HP:0008936	Axial hypotonia	10667	FARS2	ORPHA:466722
HP:0008936	Axial hypotonia	5373	PMM2	ORPHA:79318
HP:0008936	Axial hypotonia	55739	NAXD	OMIM:618321
HP:0008936	Axial hypotonia	8573	CASK	ORPHA:163937
HP:0008936	Axial hypotonia	8573	CASK	OMIM:300749
HP:0008936	Axial hypotonia	7143	TNR	OMIM:619653
HP:0008936	Axial hypotonia	5917	RARS1	OMIM:616140
HP:0008936	Axial hypotonia	10463	SLC30A9	OMIM:617595
HP:0008936	Axial hypotonia	125988	MICOS13	OMIM:618329
HP:0008936	Axial hypotonia	57479	PRR12	OMIM:619539
HP:0008936	Axial hypotonia	7994	KAT6A	OMIM:616268
HP:0008936	Axial hypotonia	51227	PIGP	OMIM:617599
HP:0008936	Axial hypotonia	23219	FBXO28	OMIM:619777
HP:0008936	Axial hypotonia	5195	PEX14	OMIM:614887
HP:0008936	Axial hypotonia	85021	REPS1	OMIM:617916
HP:0008936	Axial hypotonia	5048	PAFAH1B1	ORPHA:95232
HP:0008936	Axial hypotonia	5048	PAFAH1B1	OMIM:607432
HP:0008936	Axial hypotonia	28962	OSTM1	OMIM:259720
HP:0008936	Axial hypotonia	10195	ALG3	OMIM:601110
HP:0008936	Axial hypotonia	6567	SLC16A2	ORPHA:59
HP:0008936	Axial hypotonia	197322	ACSF3	ORPHA:289504
HP:0008936	Axial hypotonia	27247	NFU1	OMIM:605711
HP:0008936	Axial hypotonia	10533	ATG7	OMIM:619422
HP:0008936	Axial hypotonia	56160	NSMCE3	OMIM:617241
HP:0008936	Axial hypotonia	27077	B9D1	OMIM:617120
HP:0008936	Axial hypotonia	54903	MKS1	OMIM:249000
HP:0008936	Axial hypotonia	3658	IREB2	OMIM:618451
HP:0008936	Axial hypotonia	2581	GALC	OMIM:245200
HP:0008936	Axial hypotonia	2581	GALC	ORPHA:206443
HP:0008936	Axial hypotonia	2703	GJA8	OMIM:612474
HP:0008936	Axial hypotonia	2702	GJA5	OMIM:612474
HP:0008936	Axial hypotonia	10243	GPHN	OMIM:615501
HP:0008936	Axial hypotonia	51025	PAM16	OMIM:613320
HP:0008936	Axial hypotonia	171546	SPTSSA	OMIM:620416
HP:0008936	Axial hypotonia	171546	SPTSSA	OMIM:620417
HP:0008936	Axial hypotonia	5081	PAX7	OMIM:618578
HP:0008936	Axial hypotonia	5910	RAP1GDS1	OMIM:620655
HP:0008936	Axial hypotonia	2744	GLS	OMIM:618339
HP:0008936	Axial hypotonia	5277	PIGA	OMIM:301072
HP:0008936	Axial hypotonia	5277	PIGA	OMIM:300868
HP:0008936	Axial hypotonia	78987	CRELD1	OMIM:620771
HP:0008936	Axial hypotonia	10535	RNASEH2A	ORPHA:51
HP:0008936	Axial hypotonia	84153	RNASEH2C	ORPHA:51
HP:0008936	Axial hypotonia	25939	SAMHD1	ORPHA:51
HP:0008936	Axial hypotonia	25939	SAMHD1	OMIM:612952
HP:0008936	Axial hypotonia	79621	RNASEH2B	ORPHA:51
HP:0008936	Axial hypotonia	103	ADAR	ORPHA:51
HP:0008936	Axial hypotonia	11277	TREX1	ORPHA:51
HP:0008936	Axial hypotonia	11277	TREX1	OMIM:225750
HP:0008936	Axial hypotonia	100147744	RNU7-1	ORPHA:51
HP:0008936	Axial hypotonia	100147744	RNU7-1	OMIM:619487
HP:0008936	Axial hypotonia	134353	LSM11	ORPHA:51
HP:0008936	Axial hypotonia	2902	GRIN1	ORPHA:208447
HP:0008936	Axial hypotonia	2902	GRIN1	OMIM:619814
HP:0008936	Axial hypotonia	8504	PEX3	OMIM:617370
HP:0008936	Axial hypotonia	8243	SMC1A	OMIM:301044
HP:0008936	Axial hypotonia	79876	UBA5	OMIM:617132
HP:0008936	Axial hypotonia	23516	SLC39A14	OMIM:617013
HP:0008936	Axial hypotonia	160418	TMTC3	OMIM:617255
HP:0008936	Axial hypotonia	2495	FTH1	OMIM:620669
HP:0008936	Axial hypotonia	1317	SLC31A1	OMIM:620306
HP:0008936	Axial hypotonia	85476	GFM1	OMIM:609060
HP:0008936	Axial hypotonia	4719	NDUFS1	OMIM:618226
HP:0008936	Axial hypotonia	83548	COG3	OMIM:620546
HP:0008936	Axial hypotonia	51412	ACTL6B	OMIM:618468
HP:0008936	Axial hypotonia	6418	SET	OMIM:618106
HP:0008936	Axial hypotonia	4720	NDUFS2	OMIM:618228
HP:0008936	Axial hypotonia	2653	GCSH	OMIM:620423
HP:0008936	Axial hypotonia	6323	SCN1A	OMIM:619317
HP:0008936	Axial hypotonia	4729	NDUFV2	OMIM:618229
HP:0008936	Axial hypotonia	6571	SLC18A2	ORPHA:352649
HP:0008936	Axial hypotonia	6571	SLC18A2	OMIM:618049
HP:0008936	Axial hypotonia	170302	ARX	OMIM:308350
HP:0008936	Axial hypotonia	8050	PDHX	ORPHA:255182
HP:0008936	Axial hypotonia	56945	MRPS22	OMIM:611719
HP:0008936	Axial hypotonia	55187	VPS13D	OMIM:607317
HP:0008936	Axial hypotonia	23102	TBC1D2B	OMIM:619323
HP:0008936	Axial hypotonia	56521	DNAJC12	OMIM:617384
HP:0008936	Axial hypotonia	5610	EIF2AK2	OMIM:619687
HP:0008936	Axial hypotonia	64801	ARV1	OMIM:617020
HP:0008936	Axial hypotonia	6647	SOD1	OMIM:618598
HP:0008936	Axial hypotonia	51601	LIPT1	OMIM:616299
HP:0008936	Axial hypotonia	56997	COQ8A	OMIM:612016
HP:0008936	Axial hypotonia	5010	CLDN11	OMIM:619328
HP:0008936	Axial hypotonia	51010	EXOSC3	OMIM:614678
HP:0008936	Axial hypotonia	1644	DDC	OMIM:608643
HP:0008936	Axial hypotonia	64221	ROBO3	OMIM:607313
HP:0008936	Axial hypotonia	3767	KCNJ11	ORPHA:79134
HP:0008936	Axial hypotonia	79731	NARS2	ORPHA:79134
HP:0008936	Axial hypotonia	6833	ABCC8	ORPHA:79134
HP:0008936	Axial hypotonia	23499	MACF1	ORPHA:572013
HP:0008936	Axial hypotonia	387119	CEP85L	ORPHA:572013
HP:0008936	Axial hypotonia	1725	DHPS	OMIM:618480
HP:0008936	Axial hypotonia	4694	NDUFA1	OMIM:301020
HP:0008936	Axial hypotonia	4784	NFIX	OMIM:602535
HP:0008936	Axial hypotonia	55250	ELP2	OMIM:617270
HP:0008936	Axial hypotonia	8120	AP3B2	OMIM:617276
HP:0008936	Axial hypotonia	10352	WARS2	OMIM:617710
HP:0008936	Axial hypotonia	2664	GDI1	OMIM:300849
HP:0008936	Axial hypotonia	4358	MPV17	OMIM:256810
HP:0008936	Axial hypotonia	80746	TSEN2	OMIM:612389
HP:0008936	Axial hypotonia	51079	NDUFA13	OMIM:618249
HP:0008936	Axial hypotonia	400569	MED11	OMIM:620327
HP:0008936	Axial hypotonia	84188	FAR1	OMIM:619338
HP:0008936	Axial hypotonia	2917	GRM7	OMIM:618922
HP:0008936	Axial hypotonia	819	CAMLG	OMIM:620201
HP:0008936	Axial hypotonia	259232	NALCN	OMIM:615419
HP:0008936	Axial hypotonia	259232	NALCN	ORPHA:371364
HP:0008936	Axial hypotonia	54704	PDP1	ORPHA:79246
HP:0008936	Axial hypotonia	1000	CDH2	OMIM:618929
HP:0008936	Axial hypotonia	8604	SLC25A12	OMIM:612949
HP:0008936	Axial hypotonia	6821	SUOX	OMIM:272300
HP:0008936	Axial hypotonia	2898	GRIK2	OMIM:619580
HP:0008936	Axial hypotonia	7703	PCGF2	OMIM:618371
HP:0008936	Axial hypotonia	23258	DENND5A	OMIM:617281
HP:0008936	Axial hypotonia	1641	DCX	OMIM:300067
HP:0008936	Axial hypotonia	6390	SDHB	OMIM:619224
HP:0008936	Axial hypotonia	2906	GRIN2D	OMIM:617162
HP:0008936	Axial hypotonia	4761	NEUROD2	OMIM:618374
HP:0008936	Axial hypotonia	4700	NDUFA6	OMIM:618253
HP:0008936	Axial hypotonia	2257	FGF12	OMIM:617166
HP:0008936	Axial hypotonia	23065	EMC1	OMIM:616875
HP:0008936	Axial hypotonia	6304	SATB1	OMIM:619229
HP:0008936	Axial hypotonia	84668	HYCC1	OMIM:610532
HP:0008936	Axial hypotonia	57572	DOCK6	OMIM:614219
HP:0008936	Axial hypotonia	6697	SPR	OMIM:612716
HP:0008936	Axial hypotonia	6697	SPR	ORPHA:70594
HP:0008936	Axial hypotonia	79736	TEFM	OMIM:620451
HP:0008936	Axial hypotonia	7074	TIAM1	OMIM:619908
HP:0008936	Axial hypotonia	5092	PCBD1	ORPHA:1578
HP:0008936	Axial hypotonia	59336	PRDM13	OMIM:619909
HP:0008936	Axial hypotonia	8943	AP3D1	OMIM:617050
HP:0008936	Axial hypotonia	57498	KIDINS220	OMIM:617296
HP:0008936	Axial hypotonia	51095	TRNT1	OMIM:616084
HP:0008936	Axial hypotonia	2892	GRIA3	ORPHA:364028
HP:0008936	Axial hypotonia	51501	HIKESHI	OMIM:616881
HP:0008936	Axial hypotonia	54539	NDUFB11	OMIM:300952
HP:0008936	Axial hypotonia	25782	RAB3GAP2	OMIM:614225
HP:0008936	Axial hypotonia	22931	RAB18	OMIM:614222
HP:0008936	Axial hypotonia	3643	INSR	ORPHA:508
HP:0008936	Axial hypotonia	56270	WDR45B	OMIM:617977
HP:0008936	Axial hypotonia	285175	UNC80	ORPHA:371364
HP:0008936	Axial hypotonia	10682	EBP	OMIM:300960
HP:0008936	Axial hypotonia	2571	GAD1	OMIM:619124
HP:0008936	Axial hypotonia	90522	YIF1B	OMIM:619125
HP:0008936	Axial hypotonia	60558	GUF1	OMIM:617065
HP:0008936	Axial hypotonia	374354	NHLRC2	OMIM:618278
HP:0008936	Axial hypotonia	4841	NONO	OMIM:300967
HP:0008936	Axial hypotonia	440138	ALG11	ORPHA:280071
HP:0008936	Axial hypotonia	6182	MRPL12	OMIM:618951
HP:0008936	Axial hypotonia	51124	IER3IP1	OMIM:614231
HP:0008936	Axial hypotonia	79143	MBOAT7	OMIM:617188
HP:0008936	Axial hypotonia	57688	ZSWIM6	OMIM:617865
HP:0008936	Axial hypotonia	4976	OPA1	OMIM:616896
HP:0008936	Axial hypotonia	4190	MDH1	OMIM:618959
HP:0008936	Axial hypotonia	57038	RARS2	OMIM:611523
HP:0008936	Axial hypotonia	100506658	OCLN	OMIM:251290
HP:0008936	Axial hypotonia	93587	TRMT10A	ORPHA:391408
HP:0008936	Axial hypotonia	84919	PPP1R15B	ORPHA:391408
HP:0008936	Axial hypotonia	617	BCS1L	OMIM:124000
HP:0008936	Axial hypotonia	60386	SLC25A19	OMIM:607196
HP:0008936	Axial hypotonia	29929	ALG6	OMIM:603147
HP:0008936	Axial hypotonia	5296	PIK3R2	OMIM:603387
HP:0008936	Axial hypotonia	5805	PTS	OMIM:261640
HP:0008936	Axial hypotonia	54888	NSUN2	OMIM:611091
HP:0008936	Axial hypotonia	29920	PYCR2	OMIM:616420
HP:0008936	Axial hypotonia	440	ASNS	OMIM:615574
HP:0008936	Axial hypotonia	777	CACNA1E	OMIM:618285
HP:0008936	Axial hypotonia	84466	MEGF10	OMIM:620249
HP:0008936	Axial hypotonia	203190	LGI3	OMIM:620007
HP:0008936	Axial hypotonia	51294	PCDH12	OMIM:251280
HP:0008936	Axial hypotonia	9439	MED23	OMIM:614249
HP:0008936	Axial hypotonia	84081	NSRP1	OMIM:620001
HP:0008936	Axial hypotonia	124454	EARS2	OMIM:614924
HP:0008936	Axial hypotonia	3778	KCNMA1	OMIM:618729
HP:0008936	Axial hypotonia	64802	NMNAT1	OMIM:619260
HP:0008936	Axial hypotonia	116150	NUS1	OMIM:617082
HP:0008936	Axial hypotonia	27072	VPS41	OMIM:619389
HP:0008936	Axial hypotonia	1968	EIF2S3	OMIM:300148
HP:0008936	Axial hypotonia	55331	ACER3	OMIM:617762
HP:0008936	Axial hypotonia	22978	NT5C2	OMIM:613162
HP:0008936	Axial hypotonia	50484	RRM2B	OMIM:612075
HP:0008936	Axial hypotonia	221927	BRAT1	OMIM:618056
HP:0008936	Axial hypotonia	221927	BRAT1	OMIM:614498
HP:0008936	Axial hypotonia	10844	TUBGCP2	OMIM:618737
HP:0008936	Axial hypotonia	547	KIF1A	OMIM:614255
HP:0008936	Axial hypotonia	267	AMFR	OMIM:620379
HP:0008936	Axial hypotonia	23236	PLCB1	OMIM:613722
HP:0008936	Axial hypotonia	27445	PCLO	OMIM:608027
HP:0008936	Axial hypotonia	284111	SLC13A5	OMIM:615905
HP:0008936	Axial hypotonia	5052	PRDX1	OMIM:277400
HP:0008936	Axial hypotonia	25974	MMACHC	OMIM:277400
HP:0008936	Axial hypotonia	2760	GM2A	OMIM:272750
HP:0008936	Axial hypotonia	1798	DPAGT1	ORPHA:86309
HP:0008936	Axial hypotonia	84340	GFM2	ORPHA:565624
HP:0008936	Axial hypotonia	3074	HEXB	ORPHA:309155
HP:0008936	Axial hypotonia	2260	FGFR1	ORPHA:220386
HP:0008936	Axial hypotonia	2260	FGFR1	ORPHA:93924
HP:0008936	Axial hypotonia	28514	DLL1	ORPHA:220386
HP:0008936	Axial hypotonia	28514	DLL1	ORPHA:93926
HP:0008936	Axial hypotonia	28514	DLL1	ORPHA:93924
HP:0008936	Axial hypotonia	28514	DLL1	ORPHA:93925
HP:0008936	Axial hypotonia	10735	STAG2	ORPHA:220386
HP:0008936	Axial hypotonia	10735	STAG2	ORPHA:93925
HP:0008936	Axial hypotonia	2253	FGF8	ORPHA:220386
HP:0008936	Axial hypotonia	2253	FGF8	ORPHA:93926
HP:0008936	Axial hypotonia	2253	FGF8	ORPHA:93924
HP:0008936	Axial hypotonia	2253	FGF8	ORPHA:93925
HP:0008936	Axial hypotonia	6496	SIX3	ORPHA:220386
HP:0008936	Axial hypotonia	6496	SIX3	ORPHA:93926
HP:0008936	Axial hypotonia	6496	SIX3	ORPHA:93924
HP:0008936	Axial hypotonia	6496	SIX3	ORPHA:93925
HP:0008936	Axial hypotonia	7050	TGIF1	ORPHA:220386
HP:0008936	Axial hypotonia	7050	TGIF1	ORPHA:93926
HP:0008936	Axial hypotonia	7050	TGIF1	ORPHA:93924
HP:0008936	Axial hypotonia	7050	TGIF1	ORPHA:93925
HP:0008936	Axial hypotonia	4838	NODAL	ORPHA:220386
HP:0008936	Axial hypotonia	4838	NODAL	ORPHA:93926
HP:0008936	Axial hypotonia	4838	NODAL	ORPHA:93924
HP:0008936	Axial hypotonia	4838	NODAL	ORPHA:93925
HP:0008936	Axial hypotonia	6469	SHH	ORPHA:220386
HP:0008936	Axial hypotonia	6469	SHH	ORPHA:93926
HP:0008936	Axial hypotonia	6469	SHH	ORPHA:93924
HP:0008936	Axial hypotonia	6469	SHH	ORPHA:93925
HP:0008936	Axial hypotonia	7546	ZIC2	ORPHA:220386
HP:0008936	Axial hypotonia	7546	ZIC2	ORPHA:93926
HP:0008936	Axial hypotonia	7546	ZIC2	ORPHA:93924
HP:0008936	Axial hypotonia	7546	ZIC2	ORPHA:93925
HP:0008936	Axial hypotonia	6491	STIL	ORPHA:220386
HP:0008936	Axial hypotonia	6491	STIL	ORPHA:93926
HP:0008936	Axial hypotonia	6491	STIL	ORPHA:93924
HP:0008936	Axial hypotonia	6491	STIL	ORPHA:93925
HP:0008936	Axial hypotonia	2619	GAS1	ORPHA:220386
HP:0008936	Axial hypotonia	2619	GAS1	ORPHA:93926
HP:0008936	Axial hypotonia	2619	GAS1	ORPHA:93924
HP:0008936	Axial hypotonia	2619	GAS1	ORPHA:93925
HP:0008936	Axial hypotonia	84976	DISP1	ORPHA:220386
HP:0008936	Axial hypotonia	84976	DISP1	ORPHA:93926
HP:0008936	Axial hypotonia	84976	DISP1	ORPHA:93924
HP:0008936	Axial hypotonia	84976	DISP1	ORPHA:93925
HP:0008936	Axial hypotonia	2736	GLI2	ORPHA:220386
HP:0008936	Axial hypotonia	2736	GLI2	ORPHA:93926
HP:0008936	Axial hypotonia	2736	GLI2	ORPHA:93924
HP:0008936	Axial hypotonia	2736	GLI2	ORPHA:93925
HP:0008936	Axial hypotonia	8928	FOXH1	ORPHA:220386
HP:0008936	Axial hypotonia	8928	FOXH1	ORPHA:93926
HP:0008936	Axial hypotonia	8928	FOXH1	ORPHA:93924
HP:0008936	Axial hypotonia	8928	FOXH1	ORPHA:93925
HP:0008936	Axial hypotonia	6997	CRIPTO	ORPHA:220386
HP:0008936	Axial hypotonia	6997	CRIPTO	ORPHA:93926
HP:0008936	Axial hypotonia	6997	CRIPTO	ORPHA:93924
HP:0008936	Axial hypotonia	6997	CRIPTO	ORPHA:93925
HP:0008936	Axial hypotonia	5727	PTCH1	ORPHA:220386
HP:0008936	Axial hypotonia	5727	PTCH1	ORPHA:93926
HP:0008936	Axial hypotonia	5727	PTCH1	ORPHA:93924
HP:0008936	Axial hypotonia	5727	PTCH1	ORPHA:93925
HP:0008936	Axial hypotonia	50937	CDON	ORPHA:220386
HP:0008936	Axial hypotonia	50937	CDON	ORPHA:93926
HP:0008936	Axial hypotonia	50937	CDON	ORPHA:93924
HP:0008936	Axial hypotonia	50937	CDON	ORPHA:93925
HP:0008936	Axial hypotonia	815	CAMK2A	OMIM:617798
HP:0008936	Axial hypotonia	5660	PSAP	ORPHA:206436
HP:0008936	Axial hypotonia	2671	GFER	ORPHA:330054
HP:0008936	Axial hypotonia	25914	RTTN	ORPHA:468631
HP:0008936	Axial hypotonia	4125	MAN2B1	ORPHA:309282
HP:0008936	Axial hypotonia	29968	PSAT1	ORPHA:284417
HP:0008936	Axial hypotonia	6261	RYR1	ORPHA:424107
HP:0008936	Axial hypotonia	2903	GRIN2A	ORPHA:289266
HP:0008936	Axial hypotonia	283989	TSEN54	ORPHA:2524
HP:0008936	Axial hypotonia	116461	TSEN15	ORPHA:2524
HP:0008936	Axial hypotonia	79042	TSEN34	ORPHA:2524
HP:0008936	Axial hypotonia	51091	SEPSECS	ORPHA:2524
HP:0008936	Axial hypotonia	56947	MFF	ORPHA:485421
HP:0008936	Axial hypotonia	2782	GNB1	OMIM:616973
HP:0008936	Axial hypotonia	58497	PRUNE1	ORPHA:544469
HP:0008936	Axial hypotonia	23007	PLCH1	ORPHA:93925
HP:0008936	Axial hypotonia	2683	B4GALT1	ORPHA:79332
HP:0008936	Axial hypotonia	267010	RNU12	ORPHA:512260
HP:0009049	Peroneal muscle atrophy	4000	LMNA	OMIM:181350
HP:0009049	Peroneal muscle atrophy	4000	LMNA	ORPHA:98856
HP:0009049	Peroneal muscle atrophy	9897	WASHC5	ORPHA:100989
HP:0009049	Peroneal muscle atrophy	3094	HINT1	ORPHA:324442
HP:0009049	Peroneal muscle atrophy	203859	ANO5	ORPHA:399096
HP:0009049	Peroneal muscle atrophy	65055	REEP1	OMIM:614751
HP:0009049	Peroneal muscle atrophy	23230	VPS13A	ORPHA:2388
HP:0009049	Peroneal muscle atrophy	5376	PMP22	ORPHA:90658
HP:0009049	Peroneal muscle atrophy	3708	ITPR1	OMIM:117360
HP:0009049	Peroneal muscle atrophy	7273	TTN	ORPHA:609
HP:0009049	Peroneal muscle atrophy	1674	DES	OMIM:181400
HP:0009049	Peroneal muscle atrophy	59341	TRPV4	OMIM:181405
HP:0009049	Peroneal muscle atrophy	26278	SACS	OMIM:270550
HP:0031811	Bilirubinuria	28234	SLCO1B3	ORPHA:3111
HP:0031811	Bilirubinuria	10599	SLCO1B1	ORPHA:3111
HP:0031813	Colonic eosinophilia	84433	CARD11	OMIM:617638
HP:0031813	Colonic eosinophilia	3716	JAK1	OMIM:618999
HP:0031813	Colonic eosinophilia	10095	ARPC1B	OMIM:617718
HP:0031814	Palilalia	4137	MAPT	ORPHA:240094
HP:0031814	Palilalia	9213	XPR1	OMIM:616413
HP:0031814	Palilalia	80025	PANK2	OMIM:234200
HP:0031815	Abnormal oral physiology	5428	POLG	ORPHA:254881
HP:0031815	Abnormal oral physiology	55149	MTPAP	ORPHA:254343
HP:0031815	Abnormal oral physiology	10382	TUBB4A	ORPHA:98805
HP:0031815	Abnormal oral physiology	2548	GAA	ORPHA:308552
HP:0031815	Abnormal oral physiology	23400	ATP13A2	ORPHA:306674
HP:0031815	Abnormal oral physiology	1906	EDN1	ORPHA:137888
HP:0031815	Abnormal oral physiology	5332	PLCB4	ORPHA:137888
HP:0031815	Abnormal oral physiology	81846	SBF2	ORPHA:99956
HP:0031815	Abnormal oral physiology	80144	FRAS1	OMIM:219000
HP:0031815	Abnormal oral physiology	353116	RILPL1	ORPHA:98897
HP:0031815	Abnormal oral physiology	10755	GIPC1	ORPHA:98897
HP:0031815	Abnormal oral physiology	29967	LRP12	ORPHA:98897
HP:0031815	Abnormal oral physiology	100996717	NOTCH2NLC	ORPHA:98897
HP:0031815	Abnormal oral physiology	6335	SCN9A	OMIM:133020
HP:0031815	Abnormal oral physiology	2263	FGFR2	OMIM:149730
HP:0031815	Abnormal oral physiology	2263	FGFR2	ORPHA:2363
HP:0031815	Abnormal oral physiology	1131	CHRM3	OMIM:100100
HP:0031815	Abnormal oral physiology	2255	FGF10	OMIM:180920
HP:0031815	Abnormal oral physiology	2255	FGF10	OMIM:620193
HP:0031815	Abnormal oral physiology	2255	FGF10	ORPHA:2363
HP:0031815	Abnormal oral physiology	6558	SLC12A2	OMIM:619080
HP:0031815	Abnormal oral physiology	2934	GSN	ORPHA:85448
HP:0031815	Abnormal oral physiology	6492	SIM1	ORPHA:398079
HP:0031815	Abnormal oral physiology	2261	FGFR3	ORPHA:2363
HP:0031815	Abnormal oral physiology	3930	LBR	ORPHA:779
HP:0031815	Abnormal oral physiology	9071	CLDN10	OMIM:617671
HP:0031815	Abnormal oral physiology	64834	ELOVL1	OMIM:618527
HP:0031815	Abnormal oral physiology	54551	MAGEL2	ORPHA:398069
HP:0031815	Abnormal oral physiology	64127	NOD2	ORPHA:90340
HP:0031815	Abnormal oral physiology	64127	NOD2	OMIM:617321
HP:0031815	Abnormal oral physiology	1235	CCR6	ORPHA:220393
HP:0031815	Abnormal oral physiology	1490	CCN2	ORPHA:220393
HP:0031815	Abnormal oral physiology	857	CAV1	ORPHA:220393
HP:0031815	Abnormal oral physiology	8518	ELP1	OMIM:223900
HP:0031815	Abnormal oral physiology	65125	WNK1	OMIM:201300
HP:0031815	Abnormal oral physiology	54463	RETREG1	OMIM:201300
HP:0031815	Abnormal oral physiology	547	KIF1A	OMIM:201300
HP:0031815	Abnormal oral physiology	55630	SLC39A4	OMIM:201100
HP:0031815	Abnormal oral physiology	9131	AIFM1	ORPHA:238329
HP:0031815	Abnormal oral physiology	9131	AIFM1	OMIM:300816
HP:0031815	Abnormal oral physiology	11340	EXOSC8	OMIM:616081
HP:0031815	Abnormal oral physiology	11340	EXOSC8	ORPHA:2254
HP:0031815	Abnormal oral physiology	5393	EXOSC9	OMIM:618065
HP:0031815	Abnormal oral physiology	5393	EXOSC9	ORPHA:2254
HP:0031815	Abnormal oral physiology	23287	AGTPBP1	ORPHA:2254
HP:0031815	Abnormal oral physiology	23287	AGTPBP1	OMIM:618276
HP:0031815	Abnormal oral physiology	51010	EXOSC3	ORPHA:2254
HP:0031815	Abnormal oral physiology	51010	EXOSC3	OMIM:614678
HP:0031815	Abnormal oral physiology	7443	VRK1	ORPHA:2254
HP:0031815	Abnormal oral physiology	7443	VRK1	OMIM:607596
HP:0031815	Abnormal oral physiology	91137	SLC25A46	ORPHA:2254
HP:0031815	Abnormal oral physiology	6606	SMN1	OMIM:271150
HP:0031815	Abnormal oral physiology	6606	SMN1	OMIM:253400
HP:0031815	Abnormal oral physiology	6606	SMN1	OMIM:253550
HP:0031815	Abnormal oral physiology	6606	SMN1	OMIM:253300
HP:0031815	Abnormal oral physiology	8087	FXR1	OMIM:618822
HP:0031815	Abnormal oral physiology	8087	FXR1	OMIM:618823
HP:0031815	Abnormal oral physiology	6607	SMN2	OMIM:253400
HP:0031815	Abnormal oral physiology	79581	SLC52A2	OMIM:614707
HP:0031815	Abnormal oral physiology	7259	TSPYL1	OMIM:608800
HP:0031815	Abnormal oral physiology	10528	NOP56	OMIM:614153
HP:0031815	Abnormal oral physiology	10528	NOP56	ORPHA:276198
HP:0031815	Abnormal oral physiology	84466	MEGF10	OMIM:614399
HP:0031815	Abnormal oral physiology	10558	SPTLC1	OMIM:162400
HP:0031815	Abnormal oral physiology	10558	SPTLC1	OMIM:620285
HP:0031815	Abnormal oral physiology	427	ASAH1	OMIM:159950
HP:0031815	Abnormal oral physiology	6904	TBCD	OMIM:617193
HP:0031815	Abnormal oral physiology	23250	ATP11A	OMIM:619851
HP:0031815	Abnormal oral physiology	4724	NDUFS4	OMIM:252010
HP:0031815	Abnormal oral physiology	7317	UBA1	ORPHA:1145
HP:0031815	Abnormal oral physiology	7317	UBA1	OMIM:301830
HP:0031815	Abnormal oral physiology	10133	OPTN	OMIM:613435
HP:0031815	Abnormal oral physiology	10133	OPTN	ORPHA:803
HP:0031815	Abnormal oral physiology	64856	VWA1	OMIM:619216
HP:0031815	Abnormal oral physiology	203190	LGI3	OMIM:620007
HP:0031815	Abnormal oral physiology	55005	RMND1	OMIM:614922
HP:0031815	Abnormal oral physiology	7415	VCP	ORPHA:329475
HP:0031815	Abnormal oral physiology	7415	VCP	ORPHA:803
HP:0031815	Abnormal oral physiology	114034	TOE1	OMIM:614969
HP:0031815	Abnormal oral physiology	25978	CHMP2B	ORPHA:803
HP:0031815	Abnormal oral physiology	3178	HNRNPA1	ORPHA:803
HP:0031815	Abnormal oral physiology	8148	TAF15	ORPHA:803
HP:0031815	Abnormal oral physiology	5445	PON2	ORPHA:803
HP:0031815	Abnormal oral physiology	9217	VAPB	ORPHA:803
HP:0031815	Abnormal oral physiology	8878	SQSTM1	ORPHA:803
HP:0031815	Abnormal oral physiology	5630	PRPH	ORPHA:803
HP:0031815	Abnormal oral physiology	29110	TBK1	ORPHA:803
HP:0031815	Abnormal oral physiology	55830	GLT8D1	ORPHA:803
HP:0031815	Abnormal oral physiology	755	CFAP410	ORPHA:803
HP:0031815	Abnormal oral physiology	10891	PPARGC1A	ORPHA:803
HP:0031815	Abnormal oral physiology	6647	SOD1	ORPHA:803
HP:0031815	Abnormal oral physiology	1639	DCTN1	ORPHA:803
HP:0031815	Abnormal oral physiology	9896	FIG4	ORPHA:803
HP:0031815	Abnormal oral physiology	5444	PON1	ORPHA:803
HP:0031815	Abnormal oral physiology	5446	PON3	ORPHA:803
HP:0031815	Abnormal oral physiology	4744	NEFH	ORPHA:803
HP:0031815	Abnormal oral physiology	5216	PFN1	ORPHA:803
HP:0031815	Abnormal oral physiology	9782	MATR3	ORPHA:803
HP:0031815	Abnormal oral physiology	54209	TREM2	ORPHA:803
HP:0031815	Abnormal oral physiology	283	ANG	ORPHA:803
HP:0031815	Abnormal oral physiology	23435	TARDBP	ORPHA:803
HP:0031815	Abnormal oral physiology	29978	UBQLN2	ORPHA:803
HP:0031815	Abnormal oral physiology	2733	GLE1	ORPHA:803
HP:0031815	Abnormal oral physiology	2521	FUS	ORPHA:803
HP:0031815	Abnormal oral physiology	4750	NEK1	ORPHA:803
HP:0031815	Abnormal oral physiology	6311	ATXN2	ORPHA:803
HP:0031815	Abnormal oral physiology	1610	DAO	ORPHA:803
HP:0031815	Abnormal oral physiology	2066	ERBB4	ORPHA:803
HP:0031815	Abnormal oral physiology	311	ANXA11	ORPHA:803
HP:0031815	Abnormal oral physiology	23025	UNC13A	ORPHA:803
HP:0031815	Abnormal oral physiology	899	CCNF	ORPHA:803
HP:0031815	Abnormal oral physiology	400916	CHCHD10	ORPHA:803
HP:0031815	Abnormal oral physiology	400916	CHCHD10	ORPHA:276435
HP:0031815	Abnormal oral physiology	773	CACNA1A	ORPHA:569
HP:0031815	Abnormal oral physiology	112476	PRRT2	ORPHA:569
HP:0031815	Abnormal oral physiology	6323	SCN1A	ORPHA:569
HP:0031815	Abnormal oral physiology	477	ATP1A2	ORPHA:569
HP:0031815	Abnormal oral physiology	79628	SH3TC2	OMIM:601596
HP:0031815	Abnormal oral physiology	79628	SH3TC2	ORPHA:99949
HP:0031815	Abnormal oral physiology	54936	ADPRS	OMIM:618170
HP:0031815	Abnormal oral physiology	127833	SYT2	OMIM:619461
HP:0031815	Abnormal oral physiology	51305	KCNK9	ORPHA:166108
HP:0031815	Abnormal oral physiology	58497	PRUNE1	ORPHA:544469
HP:0031815	Abnormal oral physiology	89874	SLC25A21	OMIM:618811
HP:0031815	Abnormal oral physiology	5376	PMP22	OMIM:145900
HP:0031815	Abnormal oral physiology	4359	MPZ	OMIM:145900
HP:0031815	Abnormal oral physiology	1959	EGR2	OMIM:145900
HP:0031815	Abnormal oral physiology	57716	PRX	OMIM:145900
HP:0031815	Abnormal oral physiology	113278	SLC52A3	OMIM:211530
HP:0031815	Abnormal oral physiology	2137	EXTL3	ORPHA:508533
HP:0031815	Abnormal oral physiology	84706	GPT2	OMIM:616281
HP:0031815	Abnormal oral physiology	84706	GPT2	ORPHA:477673
HP:0031815	Abnormal oral physiology	55906	ZC4H2	OMIM:301041
HP:0031815	Abnormal oral physiology	55906	ZC4H2	OMIM:314580
HP:0031815	Abnormal oral physiology	23111	SPART	OMIM:275900
HP:0031815	Abnormal oral physiology	23141	ANKLE2	OMIM:616681
HP:0031815	Abnormal oral physiology	23013	SPEN	OMIM:619312
HP:0031815	Abnormal oral physiology	340533	NEXMIF	OMIM:300912
HP:0031815	Abnormal oral physiology	9759	HDAC4	OMIM:619797
HP:0031815	Abnormal oral physiology	10059	DNM1L	OMIM:614388
HP:0031815	Abnormal oral physiology	23314	SATB2	ORPHA:251028
HP:0031815	Abnormal oral physiology	23314	SATB2	ORPHA:576283
HP:0031815	Abnormal oral physiology	92335	STRADA	ORPHA:500533
HP:0031815	Abnormal oral physiology	9839	ZEB2	OMIM:235730
HP:0031815	Abnormal oral physiology	10159	ATP6AP2	ORPHA:93952
HP:0031815	Abnormal oral physiology	10159	ATP6AP2	OMIM:300423
HP:0031815	Abnormal oral physiology	478	ATP1A3	OMIM:128235
HP:0031815	Abnormal oral physiology	478	ATP1A3	OMIM:619606
HP:0031815	Abnormal oral physiology	478	ATP1A3	ORPHA:71517
HP:0031815	Abnormal oral physiology	10479	SLC9A6	OMIM:300243
HP:0031815	Abnormal oral physiology	10479	SLC9A6	ORPHA:85278
HP:0031815	Abnormal oral physiology	6567	SLC16A2	OMIM:300523
HP:0031815	Abnormal oral physiology	55209	SETD5	OMIM:615761
HP:0031815	Abnormal oral physiology	9442	MED27	OMIM:619286
HP:0031815	Abnormal oral physiology	1644	DDC	ORPHA:35708
HP:0031815	Abnormal oral physiology	283489	CHAMP1	OMIM:616579
HP:0031815	Abnormal oral physiology	3097	HIVEP2	OMIM:616977
HP:0031815	Abnormal oral physiology	5010	CLDN11	OMIM:619328
HP:0031815	Abnormal oral physiology	23431	AP4E1	OMIM:613744
HP:0031815	Abnormal oral physiology	23431	AP4E1	ORPHA:280763
HP:0031815	Abnormal oral physiology	9179	AP4M1	OMIM:612936
HP:0031815	Abnormal oral physiology	9179	AP4M1	ORPHA:280763
HP:0031815	Abnormal oral physiology	2192	FBLN1	ORPHA:404451
HP:0031815	Abnormal oral physiology	84679	SLC9A7	OMIM:301024
HP:0031815	Abnormal oral physiology	6595	SMARCA2	OMIM:619293
HP:0031815	Abnormal oral physiology	6595	SMARCA2	OMIM:601358
HP:0031815	Abnormal oral physiology	7337	UBE3A	ORPHA:98794
HP:0031815	Abnormal oral physiology	7337	UBE3A	OMIM:105830
HP:0031815	Abnormal oral physiology	7337	UBE3A	ORPHA:411511
HP:0031815	Abnormal oral physiology	7337	UBE3A	ORPHA:411515
HP:0031815	Abnormal oral physiology	4948	OCA2	ORPHA:98794
HP:0031815	Abnormal oral physiology	55777	MBD5	OMIM:156200
HP:0031815	Abnormal oral physiology	4784	NFIX	OMIM:602535
HP:0031815	Abnormal oral physiology	56992	KIF15	ORPHA:261323
HP:0031815	Abnormal oral physiology	8925	HERC1	ORPHA:457359
HP:0031815	Abnormal oral physiology	84340	GFM2	ORPHA:565624
HP:0031815	Abnormal oral physiology	84340	GFM2	OMIM:618397
HP:0031815	Abnormal oral physiology	10588	MTHFS	OMIM:618367
HP:0031815	Abnormal oral physiology	63035	BCORL1	OMIM:301029
HP:0031815	Abnormal oral physiology	9968	MED12	ORPHA:93932
HP:0031815	Abnormal oral physiology	93986	FOXP2	ORPHA:209908
HP:0031815	Abnormal oral physiology	51319	RSRC1	OMIM:618402
HP:0031815	Abnormal oral physiology	9378	NRXN1	OMIM:614325
HP:0031815	Abnormal oral physiology	9675	TTI1	OMIM:620445
HP:0031815	Abnormal oral physiology	8398	PLA2G6	ORPHA:35069
HP:0031815	Abnormal oral physiology	8604	SLC25A12	OMIM:612949
HP:0031815	Abnormal oral physiology	259232	NALCN	ORPHA:562528
HP:0031815	Abnormal oral physiology	259232	NALCN	OMIM:616266
HP:0031815	Abnormal oral physiology	2898	GRIK2	OMIM:619580
HP:0031815	Abnormal oral physiology	7703	PCGF2	OMIM:618371
HP:0031815	Abnormal oral physiology	6899	TBX1	OMIM:188400
HP:0031815	Abnormal oral physiology	80856	LNPK	OMIM:618090
HP:0031815	Abnormal oral physiology	84823	LMNB2	OMIM:619180
HP:0031815	Abnormal oral physiology	10087	CERT1	OMIM:616351
HP:0031815	Abnormal oral physiology	5631	PRPS1	OMIM:301835
HP:0031815	Abnormal oral physiology	2906	GRIN2D	OMIM:617162
HP:0031815	Abnormal oral physiology	3188	HNRNPH2	OMIM:300986
HP:0031815	Abnormal oral physiology	128989	TANGO2	OMIM:616878
HP:0031815	Abnormal oral physiology	6304	SATB1	OMIM:619229
HP:0031815	Abnormal oral physiology	26834	RNU4-2	OMIM:620851
HP:0031815	Abnormal oral physiology	6874	TAF4	OMIM:620450
HP:0031815	Abnormal oral physiology	10522	DEAF1	OMIM:617171
HP:0031815	Abnormal oral physiology	10522	DEAF1	ORPHA:468620
HP:0031815	Abnormal oral physiology	10717	AP4B1	OMIM:614066
HP:0031815	Abnormal oral physiology	10717	AP4B1	ORPHA:280763
HP:0031815	Abnormal oral physiology	27107	ZBTB11	OMIM:618383
HP:0031815	Abnormal oral physiology	11154	AP4S1	OMIM:614067
HP:0031815	Abnormal oral physiology	11154	AP4S1	ORPHA:280763
HP:0031815	Abnormal oral physiology	10846	PDE10A	ORPHA:494526
HP:0031815	Abnormal oral physiology	10846	PDE10A	OMIM:616921
HP:0031815	Abnormal oral physiology	5063	PAK3	OMIM:300558
HP:0031815	Abnormal oral physiology	6711	SPTBN1	OMIM:619475
HP:0031815	Abnormal oral physiology	3747	KCNC2	OMIM:619913
HP:0031815	Abnormal oral physiology	27286	SRPX2	ORPHA:163721
HP:0031815	Abnormal oral physiology	27286	SRPX2	ORPHA:98889
HP:0031815	Abnormal oral physiology	27286	SRPX2	ORPHA:1945
HP:0031815	Abnormal oral physiology	2903	GRIN2A	ORPHA:163721
HP:0031815	Abnormal oral physiology	2903	GRIN2A	ORPHA:1945
HP:0031815	Abnormal oral physiology	4361	MRE11	ORPHA:251347
HP:0031815	Abnormal oral physiology	9289	ADGRG1	ORPHA:98889
HP:0031815	Abnormal oral physiology	5297	PI4KA	ORPHA:98889
HP:0031815	Abnormal oral physiology	6638	SNRPN	OMIM:105830
HP:0031815	Abnormal oral physiology	6638	SNRPN	ORPHA:411515
HP:0031815	Abnormal oral physiology	6326	SCN2A	ORPHA:33069
HP:0031815	Abnormal oral physiology	2554	GABRA1	ORPHA:33069
HP:0031815	Abnormal oral physiology	6324	SCN1B	ORPHA:33069
HP:0031815	Abnormal oral physiology	57526	PCDH19	ORPHA:33069
HP:0031815	Abnormal oral physiology	2566	GABRG2	ORPHA:33069
HP:0031815	Abnormal oral physiology	2566	GABRG2	ORPHA:1945
HP:0031815	Abnormal oral physiology	11128	POLR3A	ORPHA:447896
HP:0031815	Abnormal oral physiology	11128	POLR3A	OMIM:607694
HP:0031815	Abnormal oral physiology	1737	DLAT	OMIM:245348
HP:0031815	Abnormal oral physiology	55617	TASP1	OMIM:618950
HP:0031815	Abnormal oral physiology	4841	NONO	OMIM:300967
HP:0031815	Abnormal oral physiology	6472	SHMT2	OMIM:619121
HP:0031815	Abnormal oral physiology	23230	VPS13A	OMIM:200150
HP:0031815	Abnormal oral physiology	347733	TUBB2B	OMIM:610031
HP:0031815	Abnormal oral physiology	6621	SNAPC4	OMIM:620515
HP:0031815	Abnormal oral physiology	23261	CAMTA1	OMIM:614756
HP:0031815	Abnormal oral physiology	3708	ITPR1	OMIM:117360
HP:0031815	Abnormal oral physiology	6509	SLC1A4	OMIM:616657
HP:0031815	Abnormal oral physiology	8911	CACNA1I	OMIM:620114
HP:0031815	Abnormal oral physiology	388015	RTL1	ORPHA:96334
HP:0031815	Abnormal oral physiology	8788	DLK1	ORPHA:96334
HP:0031815	Abnormal oral physiology	55384	MEG3	ORPHA:96334
HP:0031815	Abnormal oral physiology	9568	GABBR2	OMIM:617904
HP:0031815	Abnormal oral physiology	2799	GNS	OMIM:252940
HP:0031815	Abnormal oral physiology	84628	NTNG2	OMIM:618718
HP:0031815	Abnormal oral physiology	55739	NAXD	OMIM:618321
HP:0031815	Abnormal oral physiology	1512	CTSH	ORPHA:2073
HP:0031815	Abnormal oral physiology	5032	P2RY11	ORPHA:2073
HP:0031815	Abnormal oral physiology	4340	MOG	ORPHA:2073
HP:0031815	Abnormal oral physiology	3119	HLA-DQB1	ORPHA:2073
HP:0031815	Abnormal oral physiology	3060	HCRT	ORPHA:2073
HP:0031815	Abnormal oral physiology	22891	ZNF365	ORPHA:2073
HP:0031815	Abnormal oral physiology	27086	FOXP1	OMIM:613670
HP:0031815	Abnormal oral physiology	546	ATRX	OMIM:309580
HP:0031815	Abnormal oral physiology	5455	POU3F3	OMIM:618604
HP:0031815	Abnormal oral physiology	9487	PIGL	OMIM:280000
HP:0031815	Abnormal oral physiology	23219	FBXO28	OMIM:619777
HP:0031815	Abnormal oral physiology	5524	PTPA	OMIM:620482
HP:0031815	Abnormal oral physiology	84842	HPDL	OMIM:619026
HP:0031815	Abnormal oral physiology	1968	EIF2S3	OMIM:300148
HP:0031815	Abnormal oral physiology	171546	SPTSSA	OMIM:620416
HP:0031815	Abnormal oral physiology	171546	SPTSSA	OMIM:620417
HP:0031815	Abnormal oral physiology	170302	ARX	OMIM:300419
HP:0031815	Abnormal oral physiology	9230	RAB11B	OMIM:617807
HP:0031815	Abnormal oral physiology	57194	ATP10A	ORPHA:411515
HP:0031815	Abnormal oral physiology	55703	POLR3B	OMIM:607694
HP:0031815	Abnormal oral physiology	5805	PTS	ORPHA:13
HP:0031815	Abnormal oral physiology	5805	PTS	OMIM:261640
HP:0031815	Abnormal oral physiology	10320	IKZF1	ORPHA:36426
HP:0031815	Abnormal oral physiology	5860	QDPR	OMIM:261630
HP:0031815	Abnormal oral physiology	55697	VAC14	OMIM:617054
HP:0031815	Abnormal oral physiology	2290	FOXG1	ORPHA:261144
HP:0031815	Abnormal oral physiology	374654	KIF7	OMIM:200990
HP:0031815	Abnormal oral physiology	57468	SLC12A5	OMIM:616645
HP:0031815	Abnormal oral physiology	540	ATP7B	ORPHA:905
HP:0031815	Abnormal oral physiology	2643	GCH1	OMIM:233910
HP:0031815	Abnormal oral physiology	9256	TSPOAP1	ORPHA:101150
HP:0031815	Abnormal oral physiology	7054	TH	ORPHA:101150
HP:0031815	Abnormal oral physiology	26191	PTPN22	ORPHA:397
HP:0031815	Abnormal oral physiology	3106	HLA-B	ORPHA:397
HP:0031815	Abnormal oral physiology	3123	HLA-DRB1	ORPHA:397
HP:0031815	Abnormal oral physiology	8974	P4HA2	ORPHA:397
HP:0031815	Abnormal oral physiology	1134	CHRNA1	OMIM:601462
HP:0031815	Abnormal oral physiology	4487	MSX1	ORPHA:141291
HP:0031815	Abnormal oral physiology	4487	MSX1	ORPHA:99798
HP:0031815	Abnormal oral physiology	5818	NECTIN1	ORPHA:141291
HP:0031815	Abnormal oral physiology	8626	TP63	ORPHA:141291
HP:0031815	Abnormal oral physiology	3664	IRF6	ORPHA:141291
HP:0031815	Abnormal oral physiology	3664	IRF6	ORPHA:99798
HP:0031815	Abnormal oral physiology	23394	ADNP	ORPHA:404448
HP:0031815	Abnormal oral physiology	91574	MTRFR	ORPHA:254930
HP:0031815	Abnormal oral physiology	91574	MTRFR	OMIM:613559
HP:0031815	Abnormal oral physiology	8367	H4C5	OMIM:619950
HP:0031815	Abnormal oral physiology	284058	KANSL1	ORPHA:363958
HP:0031815	Abnormal oral physiology	284058	KANSL1	ORPHA:363965
HP:0031815	Abnormal oral physiology	5528	PPP2R5D	ORPHA:457279
HP:0031815	Abnormal oral physiology	23516	SLC39A14	OMIM:617013
HP:0031815	Abnormal oral physiology	3423	IDS	ORPHA:217085
HP:0031815	Abnormal oral physiology	3423	IDS	ORPHA:217093
HP:0031815	Abnormal oral physiology	51126	NAA20	OMIM:619717
HP:0031815	Abnormal oral physiology	10381	TUBB3	ORPHA:300570
HP:0031815	Abnormal oral physiology	57679	ALS2	ORPHA:293168
HP:0031815	Abnormal oral physiology	57679	ALS2	OMIM:607225
HP:0031815	Abnormal oral physiology	79912	PYROXD1	OMIM:617258
HP:0031815	Abnormal oral physiology	4762	NEUROG1	OMIM:620469
HP:0031815	Abnormal oral physiology	3211	HOXB1	OMIM:614744
HP:0031815	Abnormal oral physiology	122622	ADSS1	ORPHA:482601
HP:0031815	Abnormal oral physiology	5837	PYGM	ORPHA:368
HP:0031815	Abnormal oral physiology	2260	FGFR1	ORPHA:99798
HP:0031815	Abnormal oral physiology	128178	EDARADD	ORPHA:99798
HP:0031815	Abnormal oral physiology	5083	PAX9	ORPHA:99798
HP:0031815	Abnormal oral physiology	7341	SUMO1	ORPHA:99798
HP:0031815	Abnormal oral physiology	80326	WNT10A	ORPHA:99798
HP:0031815	Abnormal oral physiology	1896	EDA	ORPHA:99798
HP:0031815	Abnormal oral physiology	8313	AXIN2	ORPHA:99798
HP:0031815	Abnormal oral physiology	4040	LRP6	ORPHA:99798
HP:0031815	Abnormal oral physiology	7039	TGFA	ORPHA:99798
HP:0031815	Abnormal oral physiology	7480	WNT10B	ORPHA:99798
HP:0031815	Abnormal oral physiology	57190	SELENON	ORPHA:2020
HP:0031815	Abnormal oral physiology	58	ACTA1	ORPHA:2020
HP:0031815	Abnormal oral physiology	4633	MYL2	ORPHA:2020
HP:0031815	Abnormal oral physiology	3679	ITGA7	ORPHA:2020
HP:0031815	Abnormal oral physiology	7169	TPM2	ORPHA:2020
HP:0031815	Abnormal oral physiology	9200	HACD1	ORPHA:2020
HP:0031815	Abnormal oral physiology	7170	TPM3	ORPHA:2020
HP:0031815	Abnormal oral physiology	51776	MAP3K20	ORPHA:2020
HP:0031815	Abnormal oral physiology	8292	COLQ	ORPHA:98915
HP:0031815	Abnormal oral physiology	3913	LAMB2	ORPHA:98915
HP:0031815	Abnormal oral physiology	84033	OBSCN	ORPHA:99845
HP:0031815	Abnormal oral physiology	23175	LPIN1	ORPHA:99845
HP:0031815	Abnormal oral physiology	4512	MT-CO1	ORPHA:99845
HP:0031815	Abnormal oral physiology	4514	MT-CO3	ORPHA:99845
HP:0031815	Abnormal oral physiology	10667	FARS2	ORPHA:466722
HP:0031815	Abnormal oral physiology	2902	GRIN1	ORPHA:208447
HP:0031815	Abnormal oral physiology	3908	LAMA2	ORPHA:258
HP:0031815	Abnormal oral physiology	2773	GNAI3	OMIM:602483
HP:0031815	Abnormal oral physiology	2165	F13B	ORPHA:331
HP:0031815	Abnormal oral physiology	2162	F13A1	ORPHA:331
HP:0031815	Abnormal oral physiology	9493	KIF23	ORPHA:98870
HP:0031815	Abnormal oral physiology	29127	RACGAP1	ORPHA:98870
HP:0031815	Abnormal oral physiology	6774	STAT3	ORPHA:520
HP:0031815	Abnormal oral physiology	5371	PML	ORPHA:520
HP:0031815	Abnormal oral physiology	5914	RARA	ORPHA:520
HP:0031815	Abnormal oral physiology	359948	IRF2BP2	ORPHA:520
HP:0031815	Abnormal oral physiology	81608	FIP1L1	ORPHA:520
HP:0031815	Abnormal oral physiology	4869	NPM1	ORPHA:520
HP:0031815	Abnormal oral physiology	5573	PRKAR1A	ORPHA:520
HP:0031815	Abnormal oral physiology	54880	BCOR	ORPHA:520
HP:0031815	Abnormal oral physiology	64859	NABP1	ORPHA:520
HP:0031815	Abnormal oral physiology	6777	STAT5B	ORPHA:520
HP:0031815	Abnormal oral physiology	4926	NUMA1	ORPHA:520
HP:0031815	Abnormal oral physiology	7704	ZBTB16	ORPHA:520
HP:0031815	Abnormal oral physiology	79718	TBL1XR1	ORPHA:520
HP:0031815	Abnormal oral physiology	2157	F8	ORPHA:169802
HP:0031815	Abnormal oral physiology	2159	F10	ORPHA:328
HP:0031815	Abnormal oral physiology	2147	F2	ORPHA:325
HP:0031815	Abnormal oral physiology	2153	F5	ORPHA:326
HP:0031815	Abnormal oral physiology	8831	SYNGAP1	ORPHA:544254
HP:0031815	Abnormal oral physiology	4914	NTRK1	ORPHA:642
HP:0031815	Abnormal oral physiology	9881	TRANK1	ORPHA:33543
HP:0031815	Abnormal oral physiology	81575	APOLD1	OMIM:620715
HP:0031815	Abnormal oral physiology	5054	SERPINE1	ORPHA:465
HP:0031815	Abnormal oral physiology	7454	WAS	OMIM:301000
HP:0031815	Abnormal oral physiology	710	SERPING1	ORPHA:100050
HP:0031815	Abnormal oral physiology	2215	FCGR3B	ORPHA:536
HP:0031815	Abnormal oral physiology	6775	STAT4	ORPHA:536
HP:0031815	Abnormal oral physiology	3684	ITGAM	ORPHA:536
HP:0031815	Abnormal oral physiology	3586	IL10	ORPHA:536
HP:0031815	Abnormal oral physiology	221895	JAZF1	ORPHA:536
HP:0031815	Abnormal oral physiology	11277	TREX1	ORPHA:536
HP:0031815	Abnormal oral physiology	7292	TNFSF4	ORPHA:536
HP:0031815	Abnormal oral physiology	640	BLK	ORPHA:536
HP:0031815	Abnormal oral physiology	720	C4A	ORPHA:536
HP:0031815	Abnormal oral physiology	55024	BANK1	ORPHA:536
HP:0031815	Abnormal oral physiology	3500	IGHG1	ORPHA:536
HP:0031815	Abnormal oral physiology	3654	IRAK1	ORPHA:536
HP:0031815	Abnormal oral physiology	1493	CTLA4	ORPHA:536
HP:0031815	Abnormal oral physiology	1380	CR2	ORPHA:536
HP:0031815	Abnormal oral physiology	5133	PDCD1	ORPHA:536
HP:0031815	Abnormal oral physiology	2113	ETS1	ORPHA:536
HP:0031815	Abnormal oral physiology	2213	FCGR2B	ORPHA:536
HP:0031815	Abnormal oral physiology	10318	TNIP1	ORPHA:536
HP:0031815	Abnormal oral physiology	7332	UBE2L3	ORPHA:536
HP:0031815	Abnormal oral physiology	79932	KIAA0319L	ORPHA:536
HP:0031815	Abnormal oral physiology	4204	MECP2	ORPHA:536
HP:0031815	Abnormal oral physiology	3663	IRF5	ORPHA:536
HP:0031815	Abnormal oral physiology	721	C4B	ORPHA:536
HP:0031815	Abnormal oral physiology	1773	DNASE1	ORPHA:536
HP:0031815	Abnormal oral physiology	51284	TLR7	ORPHA:536
HP:0031815	Abnormal oral physiology	6696	SPP1	ORPHA:536
HP:0031815	Abnormal oral physiology	54899	PXK	ORPHA:536
HP:0031815	Abnormal oral physiology	7128	TNFAIP3	ORPHA:536
HP:0031815	Abnormal oral physiology	4143	MAT1A	OMIM:250850
HP:0031815	Abnormal oral physiology	8991	SELENBP1	OMIM:618148
HP:0031815	Abnormal oral physiology	6340	SCNN1G	ORPHA:60033
HP:0031815	Abnormal oral physiology	1080	CFTR	ORPHA:60033
HP:0031815	Abnormal oral physiology	6337	SCNN1A	ORPHA:60033
HP:0031815	Abnormal oral physiology	6338	SCNN1B	ORPHA:60033
HP:0031816	Abnormal oral morphology	158	ADSL	OMIM:103050
HP:0031816	Abnormal oral morphology	23241	PACS2	OMIM:618067
HP:0031816	Abnormal oral morphology	54968	TMEM70	ORPHA:1194
HP:0031816	Abnormal oral morphology	3020	H3-3A	OMIM:619720
HP:0031816	Abnormal oral morphology	10300	KATNB1	OMIM:616212
HP:0031816	Abnormal oral morphology	55690	PACS1	OMIM:615009
HP:0031816	Abnormal oral morphology	55690	PACS1	ORPHA:329224
HP:0031816	Abnormal oral morphology	10847	SRCAP	ORPHA:2044
HP:0031816	Abnormal oral morphology	10847	SRCAP	OMIM:136140
HP:0031816	Abnormal oral morphology	10847	SRCAP	OMIM:619595
HP:0031816	Abnormal oral morphology	9739	SETD1A	OMIM:619056
HP:0031816	Abnormal oral morphology	815	CAMK2A	OMIM:617798
HP:0031816	Abnormal oral morphology	2720	GLB1	OMIM:253010
HP:0031816	Abnormal oral morphology	57178	ZMIZ1	OMIM:618659
HP:0031816	Abnormal oral morphology	55623	THUMPD1	OMIM:619989
HP:0031816	Abnormal oral morphology	9653	HS2ST1	OMIM:619194
HP:0031816	Abnormal oral morphology	8493	PPM1D	OMIM:617450
HP:0031816	Abnormal oral morphology	7862	BRPF1	OMIM:617333
HP:0031816	Abnormal oral morphology	8363	H4C11	OMIM:619759
HP:0031816	Abnormal oral morphology	10013	HDAC6	ORPHA:163966
HP:0031816	Abnormal oral morphology	116115	ZNF526	OMIM:619877
HP:0031816	Abnormal oral morphology	8364	H4C3	OMIM:619758
HP:0031816	Abnormal oral morphology	7337	UBE3A	OMIM:105830
HP:0031816	Abnormal oral morphology	7337	UBE3A	ORPHA:98794
HP:0031816	Abnormal oral morphology	7337	UBE3A	ORPHA:98795
HP:0031816	Abnormal oral morphology	7337	UBE3A	ORPHA:411511
HP:0031816	Abnormal oral morphology	7337	UBE3A	ORPHA:411515
HP:0031816	Abnormal oral morphology	9719	ADAMTSL2	OMIM:231050
HP:0031816	Abnormal oral morphology	93986	FOXP2	ORPHA:251061
HP:0031816	Abnormal oral morphology	79796	ALG9	ORPHA:79328
HP:0031816	Abnormal oral morphology	79796	ALG9	OMIM:608776
HP:0031816	Abnormal oral morphology	6558	SLC12A2	OMIM:619080
HP:0031816	Abnormal oral morphology	253959	RALGAPA1	OMIM:618797
HP:0031816	Abnormal oral morphology	4285	MIPEP	OMIM:617228
HP:0031816	Abnormal oral morphology	6605	SMARCE1	OMIM:616938
HP:0031816	Abnormal oral morphology	6605	SMARCE1	ORPHA:1465
HP:0031816	Abnormal oral morphology	471	ATIC	OMIM:608688
HP:0031816	Abnormal oral morphology	471	ATIC	ORPHA:250977
HP:0031816	Abnormal oral morphology	10430	TMEM147	OMIM:620075
HP:0031816	Abnormal oral morphology	54941	RNF125	OMIM:616260
HP:0031816	Abnormal oral morphology	9652	SKIC3	OMIM:222470
HP:0031816	Abnormal oral morphology	51322	WAC	ORPHA:466950
HP:0031816	Abnormal oral morphology	6513	SLC2A1	ORPHA:1942
HP:0031816	Abnormal oral morphology	1173	AP2M1	ORPHA:1942
HP:0031816	Abnormal oral morphology	6323	SCN1A	ORPHA:1942
HP:0031816	Abnormal oral morphology	1106	CHD2	ORPHA:1942
HP:0031816	Abnormal oral morphology	6529	SLC6A1	ORPHA:1942
HP:0031816	Abnormal oral morphology	1642	DDB1	OMIM:619426
HP:0031816	Abnormal oral morphology	92335	STRADA	ORPHA:500533
HP:0031816	Abnormal oral morphology	92335	STRADA	OMIM:611087
HP:0031816	Abnormal oral morphology	51412	ACTL6B	OMIM:618470
HP:0031816	Abnormal oral morphology	7707	ZNF148	OMIM:617260
HP:0031816	Abnormal oral morphology	57520	HECW2	OMIM:617268
HP:0031816	Abnormal oral morphology	998	CDC42	OMIM:616737
HP:0031816	Abnormal oral morphology	998	CDC42	ORPHA:487796
HP:0031816	Abnormal oral morphology	4948	OCA2	ORPHA:98794
HP:0031816	Abnormal oral morphology	55777	MBD5	OMIM:156200
HP:0031816	Abnormal oral morphology	5977	DPF2	ORPHA:1465
HP:0031816	Abnormal oral morphology	5977	DPF2	OMIM:618027
HP:0031816	Abnormal oral morphology	6601	SMARCC2	ORPHA:1465
HP:0031816	Abnormal oral morphology	9378	NRXN1	OMIM:614325
HP:0031816	Abnormal oral morphology	9969	MED13	OMIM:618009
HP:0031816	Abnormal oral morphology	91647	ATPAF2	OMIM:604273
HP:0031816	Abnormal oral morphology	80311	KLHL15	OMIM:300982
HP:0031816	Abnormal oral morphology	5422	POLA1	OMIM:301030
HP:0031816	Abnormal oral morphology	10524	KAT5	OMIM:619103
HP:0031816	Abnormal oral morphology	2475	MTOR	ORPHA:457485
HP:0031816	Abnormal oral morphology	2475	MTOR	OMIM:616638
HP:0031816	Abnormal oral morphology	5723	PSPH	ORPHA:79350
HP:0031816	Abnormal oral morphology	10771	ZMYND11	OMIM:616083
HP:0031816	Abnormal oral morphology	7737	RNF113A	OMIM:300953
HP:0031816	Abnormal oral morphology	2588	GALNS	OMIM:253000
HP:0031816	Abnormal oral morphology	23040	MYT1L	OMIM:616521
HP:0031816	Abnormal oral morphology	6299	SALL1	ORPHA:857
HP:0031816	Abnormal oral morphology	51339	DACT1	ORPHA:857
HP:0031816	Abnormal oral morphology	6748	SSR4	ORPHA:370927
HP:0031816	Abnormal oral morphology	6748	SSR4	OMIM:300934
HP:0031816	Abnormal oral morphology	51780	KDM3B	OMIM:618846
HP:0031816	Abnormal oral morphology	3778	KCNMA1	OMIM:618729
HP:0031816	Abnormal oral morphology	64802	NMNAT1	OMIM:619260
HP:0031816	Abnormal oral morphology	57194	ATP10A	ORPHA:411515
HP:0031816	Abnormal oral morphology	6303	SAT1	ORPHA:93552
HP:0031816	Abnormal oral morphology	3575	IL7R	OMIM:608971
HP:0031816	Abnormal oral morphology	3575	IL7R	ORPHA:169154
HP:0031816	Abnormal oral morphology	939	CD27	OMIM:615122
HP:0031816	Abnormal oral morphology	3587	IL10RA	OMIM:613148
HP:0031816	Abnormal oral morphology	139818	DOCK11	OMIM:301109
HP:0031816	Abnormal oral morphology	5970	RELA	OMIM:618287
HP:0031816	Abnormal oral morphology	713	C1QB	OMIM:620321
HP:0031816	Abnormal oral morphology	6850	SYK	OMIM:619381
HP:0031816	Abnormal oral morphology	2000	ELF4	OMIM:301074
HP:0031816	Abnormal oral morphology	8737	RIPK1	OMIM:618852
HP:0031816	Abnormal oral morphology	51422	PRKAG2	OMIM:261740
HP:0031816	Abnormal oral morphology	9927	MFN2	OMIM:151800
HP:0031816	Abnormal oral morphology	411	ARSB	OMIM:253200
HP:0031816	Abnormal oral morphology	4125	MAN2B1	ORPHA:309282
HP:0031816	Abnormal oral morphology	4125	MAN2B1	ORPHA:309288
HP:0031816	Abnormal oral morphology	4125	MAN2B1	OMIM:248500
HP:0031816	Abnormal oral morphology	7849	PAX8	OMIM:218700
HP:0031816	Abnormal oral morphology	7849	PAX8	ORPHA:95720
HP:0031816	Abnormal oral morphology	7849	PAX8	ORPHA:95713
HP:0031816	Abnormal oral morphology	7849	PAX8	ORPHA:95712
HP:0031816	Abnormal oral morphology	3074	HEXB	OMIM:268800
HP:0031816	Abnormal oral morphology	271	AMPD2	OMIM:615809
HP:0031816	Abnormal oral morphology	346171	ZFP57	ORPHA:99886
HP:0031816	Abnormal oral morphology	7253	TSHR	ORPHA:90673
HP:0031816	Abnormal oral morphology	7253	TSHR	ORPHA:95720
HP:0031816	Abnormal oral morphology	7253	TSHR	ORPHA:95713
HP:0031816	Abnormal oral morphology	5172	SLC26A4	ORPHA:95720
HP:0031816	Abnormal oral morphology	5172	SLC26A4	ORPHA:95713
HP:0031816	Abnormal oral morphology	7252	TSHB	ORPHA:90674
HP:0031816	Abnormal oral morphology	7252	TSHB	OMIM:275100
HP:0031816	Abnormal oral morphology	10940	POP1	OMIM:617396
HP:0031816	Abnormal oral morphology	405753	DUOXA2	ORPHA:95716
HP:0031816	Abnormal oral morphology	6528	SLC5A5	ORPHA:95716
HP:0031816	Abnormal oral morphology	6528	SLC5A5	OMIM:274400
HP:0031816	Abnormal oral morphology	7038	TG	ORPHA:95716
HP:0031816	Abnormal oral morphology	7173	TPO	ORPHA:95716
HP:0031816	Abnormal oral morphology	389434	IYD	ORPHA:95716
HP:0031816	Abnormal oral morphology	50506	DUOX2	ORPHA:95716
HP:0031816	Abnormal oral morphology	50506	DUOX2	ORPHA:226316
HP:0031816	Abnormal oral morphology	7080	NKX2-1	ORPHA:95713
HP:0031816	Abnormal oral morphology	112812	FDX2	OMIM:251900
HP:0031816	Abnormal oral morphology	7067	THRA	OMIM:614450
HP:0031816	Abnormal oral morphology	29128	UHRF1	ORPHA:2268
HP:0031816	Abnormal oral morphology	3070	HELLS	ORPHA:2268
HP:0031816	Abnormal oral morphology	1789	DNMT3B	ORPHA:2268
HP:0031816	Abnormal oral morphology	1789	DNMT3B	OMIM:242860
HP:0031816	Abnormal oral morphology	83879	CDCA7	ORPHA:2268
HP:0031816	Abnormal oral morphology	6445	SGCG	ORPHA:353
HP:0031816	Abnormal oral morphology	2290	FOXG1	ORPHA:261144
HP:0031816	Abnormal oral morphology	94005	PIGS	OMIM:618143
HP:0031816	Abnormal oral morphology	5626	PROP1	ORPHA:226307
HP:0031816	Abnormal oral morphology	89884	LHX4	ORPHA:226307
HP:0031816	Abnormal oral morphology	8022	LHX3	ORPHA:226307
HP:0031816	Abnormal oral morphology	5449	POU1F1	ORPHA:226307
HP:0031816	Abnormal oral morphology	5449	POU1F1	OMIM:613038
HP:0031816	Abnormal oral morphology	2548	GAA	OMIM:232300
HP:0031816	Abnormal oral morphology	2548	GAA	ORPHA:308552
HP:0031816	Abnormal oral morphology	3784	KCNQ1	OMIM:130650
HP:0031816	Abnormal oral morphology	2990	GUSB	OMIM:253220
HP:0031816	Abnormal oral morphology	55679	LIMS2	OMIM:616827
HP:0031816	Abnormal oral morphology	29929	ALG6	ORPHA:79320
HP:0031816	Abnormal oral morphology	5468	PPARG	ORPHA:528
HP:0031816	Abnormal oral morphology	10555	AGPAT2	ORPHA:528
HP:0031816	Abnormal oral morphology	284119	CAVIN1	ORPHA:528
HP:0031816	Abnormal oral morphology	26580	BSCL2	ORPHA:528
HP:0031816	Abnormal oral morphology	2353	FOS	ORPHA:528
HP:0031816	Abnormal oral morphology	79053	ALG8	ORPHA:79325
HP:0031816	Abnormal oral morphology	27133	KCNH5	OMIM:620537
HP:0031816	Abnormal oral morphology	5696	PSMB8	OMIM:256040
HP:0031816	Abnormal oral morphology	84818	IL17RC	ORPHA:1334
HP:0031816	Abnormal oral morphology	64581	CLEC7A	ORPHA:1334
HP:0031816	Abnormal oral morphology	23765	IL17RA	ORPHA:1334
HP:0031816	Abnormal oral morphology	10758	TRAF3IP2	ORPHA:1334
HP:0031816	Abnormal oral morphology	112744	IL17F	ORPHA:1334
HP:0031816	Abnormal oral morphology	89910	UBE3B	ORPHA:2707
HP:0031816	Abnormal oral morphology	10815	CPLX1	ORPHA:280
HP:0031816	Abnormal oral morphology	54872	PIGG	ORPHA:280
HP:0031816	Abnormal oral morphology	7469	NELFA	ORPHA:280
HP:0031816	Abnormal oral morphology	1487	CTBP1	ORPHA:280
HP:0031816	Abnormal oral morphology	3954	LETM1	ORPHA:280
HP:0031816	Abnormal oral morphology	7468	NSD2	ORPHA:280
HP:0031816	Abnormal oral morphology	54453	RIN2	ORPHA:217335
HP:0031816	Abnormal oral morphology	4089	SMAD4	ORPHA:2588
HP:0031816	Abnormal oral morphology	2137	EXTL3	ORPHA:508533
HP:0031816	Abnormal oral morphology	894	CCND2	ORPHA:83473
HP:0031816	Abnormal oral morphology	5296	PIK3R2	ORPHA:83473
HP:0031816	Abnormal oral morphology	10000	AKT3	ORPHA:83473
HP:0031816	Abnormal oral morphology	4774	NFIA	OMIM:613735
HP:0031816	Abnormal oral morphology	5447	POR	ORPHA:95699
HP:0031816	Abnormal oral morphology	116931	MED12L	OMIM:618872
HP:0031816	Abnormal oral morphology	51506	UFC1	OMIM:618076
HP:0031816	Abnormal oral morphology	25914	RTTN	OMIM:614833
HP:0031816	Abnormal oral morphology	25914	RTTN	ORPHA:468631
HP:0031816	Abnormal oral morphology	24142	NAA80	OMIM:620830
HP:0031816	Abnormal oral morphology	28960	DCPS	OMIM:616459
HP:0031816	Abnormal oral morphology	857	CAV1	OMIM:606721
HP:0031816	Abnormal oral morphology	64919	BCL11B	OMIM:618092
HP:0031816	Abnormal oral morphology	5424	POLD1	OMIM:615381
HP:0031816	Abnormal oral morphology	657	BMPR1A	ORPHA:79076
HP:0031816	Abnormal oral morphology	5590	PRKCZ	ORPHA:1606
HP:0031816	Abnormal oral morphology	2563	GABRD	ORPHA:1606
HP:0031816	Abnormal oral morphology	8510	MMP23B	ORPHA:1606
HP:0031816	Abnormal oral morphology	7798	LUZP1	ORPHA:1606
HP:0031816	Abnormal oral morphology	10630	PDPN	ORPHA:1606
HP:0031816	Abnormal oral morphology	10277	UBE4B	ORPHA:1606
HP:0031816	Abnormal oral morphology	8514	KCNAB2	ORPHA:1606
HP:0031816	Abnormal oral morphology	63976	PRDM16	ORPHA:1606
HP:0031816	Abnormal oral morphology	54897	CASZ1	ORPHA:1606
HP:0031816	Abnormal oral morphology	6134	RPL10	ORPHA:459070
HP:0031816	Abnormal oral morphology	6134	RPL10	OMIM:300998
HP:0031816	Abnormal oral morphology	3675	ITGA3	OMIM:614748
HP:0031816	Abnormal oral morphology	5832	ALDH18A1	OMIM:219150
HP:0031816	Abnormal oral morphology	84919	PPP1R15B	OMIM:616817
HP:0031816	Abnormal oral morphology	84919	PPP1R15B	ORPHA:391408
HP:0031816	Abnormal oral morphology	124583	CANT1	OMIM:251450
HP:0031816	Abnormal oral morphology	4193	MDM2	OMIM:618681
HP:0031816	Abnormal oral morphology	55217	TMLHE	OMIM:300872
HP:0031816	Abnormal oral morphology	221496	LEMD2	OMIM:619322
HP:0031816	Abnormal oral morphology	51132	RLIM	OMIM:300978
HP:0031816	Abnormal oral morphology	55210	ATAD3A	OMIM:618810
HP:0031816	Abnormal oral morphology	1974	EIF4A2	OMIM:620455
HP:0031816	Abnormal oral morphology	5281	PIGF	OMIM:619356
HP:0031816	Abnormal oral morphology	80152	CENPT	OMIM:618702
HP:0031816	Abnormal oral morphology	6050	RNH1	OMIM:620461
HP:0031816	Abnormal oral morphology	57570	TRMT5	OMIM:616539
HP:0031816	Abnormal oral morphology	93587	TRMT10A	ORPHA:391408
HP:0031816	Abnormal oral morphology	203190	LGI3	OMIM:620007
HP:0031816	Abnormal oral morphology	3735	KARS1	OMIM:619147
HP:0031816	Abnormal oral morphology	221692	PHACTR1	OMIM:618298
HP:0031816	Abnormal oral morphology	695	BTK	ORPHA:47
HP:0031816	Abnormal oral morphology	92482	BBIP1	ORPHA:110
HP:0031816	Abnormal oral morphology	80184	CEP290	ORPHA:110
HP:0031816	Abnormal oral morphology	11020	IFT27	ORPHA:110
HP:0031816	Abnormal oral morphology	582	BBS1	ORPHA:110
HP:0031816	Abnormal oral morphology	49855	SCAPER	ORPHA:110
HP:0031816	Abnormal oral morphology	4867	NPHP1	ORPHA:110
HP:0031816	Abnormal oral morphology	51057	WDPCP	ORPHA:110
HP:0031816	Abnormal oral morphology	132320	SCLT1	ORPHA:110
HP:0031816	Abnormal oral morphology	27241	BBS9	ORPHA:110
HP:0031816	Abnormal oral morphology	84984	CEP19	ORPHA:110
HP:0031816	Abnormal oral morphology	22954	TRIM32	ORPHA:110
HP:0031816	Abnormal oral morphology	54903	MKS1	ORPHA:110
HP:0031816	Abnormal oral morphology	79738	BBS10	ORPHA:110
HP:0031816	Abnormal oral morphology	123016	TTC8	ORPHA:110
HP:0031816	Abnormal oral morphology	26160	IFT172	ORPHA:110
HP:0031816	Abnormal oral morphology	583	BBS2	ORPHA:110
HP:0031816	Abnormal oral morphology	585	BBS4	ORPHA:110
HP:0031816	Abnormal oral morphology	8195	MKKS	ORPHA:110
HP:0031816	Abnormal oral morphology	54585	LZTFL1	ORPHA:110
HP:0031816	Abnormal oral morphology	55212	BBS7	ORPHA:110
HP:0031816	Abnormal oral morphology	166379	BBS12	ORPHA:110
HP:0031816	Abnormal oral morphology	10806	SDCCAG8	ORPHA:110
HP:0031816	Abnormal oral morphology	157657	CFAP418	ORPHA:110
HP:0031816	Abnormal oral morphology	84100	ARL6	ORPHA:110
HP:0031816	Abnormal oral morphology	129880	BBS5	ORPHA:110
HP:0031816	Abnormal oral morphology	80173	IFT74	ORPHA:110
HP:0031816	Abnormal oral morphology	7314	UBB	ORPHA:101023
HP:0031816	Abnormal oral morphology	57822	GRHL3	ORPHA:101023
HP:0031816	Abnormal oral morphology	1493	CTLA4	ORPHA:900
HP:0031816	Abnormal oral morphology	26191	PTPN22	ORPHA:900
HP:0031816	Abnormal oral morphology	3115	HLA-DPB1	ORPHA:900
HP:0031816	Abnormal oral morphology	5657	PRTN3	ORPHA:900
HP:0031816	Abnormal oral morphology	3113	HLA-DPA1	ORPHA:900
HP:0031816	Abnormal oral morphology	79092	CARD14	ORPHA:2897
HP:0031816	Abnormal oral morphology	7421	VDR	ORPHA:93160
HP:0031816	Abnormal oral morphology	4621	MYH3	ORPHA:2053
HP:0031816	Abnormal oral morphology	259232	NALCN	ORPHA:2053
HP:0031816	Abnormal oral morphology	23135	KDM6B	OMIM:618505
HP:0031816	Abnormal oral morphology	1947	EFNB1	ORPHA:1520
HP:0031816	Abnormal oral morphology	1947	EFNB1	OMIM:304110
HP:0031816	Abnormal oral morphology	673	BRAF	OMIM:115150
HP:0031816	Abnormal oral morphology	3891	KRT85	OMIM:602032
HP:0031816	Abnormal oral morphology	324	APC	ORPHA:79665
HP:0031816	Abnormal oral morphology	1161	ERCC8	ORPHA:90321
HP:0031816	Abnormal oral morphology	2072	ERCC4	ORPHA:90321
HP:0031816	Abnormal oral morphology	2072	ERCC4	ORPHA:910
HP:0031816	Abnormal oral morphology	2074	ERCC6	ORPHA:90321
HP:0031816	Abnormal oral morphology	64324	NSD1	ORPHA:821
HP:0031816	Abnormal oral morphology	10297	APC2	ORPHA:821
HP:0031816	Abnormal oral morphology	65267	WNK3	OMIM:309610
HP:0031816	Abnormal oral morphology	249	ALPL	OMIM:241500
HP:0031816	Abnormal oral morphology	1855	DVL1	OMIM:616331
HP:0031816	Abnormal oral morphology	121391	KRT74	OMIM:613981
HP:0031816	Abnormal oral morphology	121391	KRT74	ORPHA:90368
HP:0031816	Abnormal oral morphology	121391	KRT74	OMIM:614929
HP:0031816	Abnormal oral morphology	80055	PGAP1	OMIM:615802
HP:0031816	Abnormal oral morphology	2314	FLII	ORPHA:819
HP:0031816	Abnormal oral morphology	23096	IQSEC2	ORPHA:819
HP:0031816	Abnormal oral morphology	10743	RAI1	ORPHA:819
HP:0031816	Abnormal oral morphology	10743	RAI1	OMIM:182290
HP:0031816	Abnormal oral morphology	10522	DEAF1	ORPHA:819
HP:0031816	Abnormal oral morphology	5818	NECTIN1	ORPHA:3253
HP:0031816	Abnormal oral morphology	7015	TERT	OMIM:613989
HP:0031816	Abnormal oral morphology	7015	TERT	ORPHA:1775
HP:0031816	Abnormal oral morphology	57539	WDR35	ORPHA:1515
HP:0031816	Abnormal oral morphology	112752	IFT43	ORPHA:1515
HP:0031816	Abnormal oral morphology	51098	IFT52	ORPHA:1515
HP:0031816	Abnormal oral morphology	55764	IFT122	ORPHA:1515
HP:0031816	Abnormal oral morphology	57728	WDR19	ORPHA:1515
HP:0031816	Abnormal oral morphology	7298	TYMS	OMIM:620040
HP:0031816	Abnormal oral morphology	7298	TYMS	ORPHA:1775
HP:0031816	Abnormal oral morphology	54345	SOX18	OMIM:607823
HP:0031816	Abnormal oral morphology	54880	BCOR	ORPHA:2712
HP:0031816	Abnormal oral morphology	54880	BCOR	ORPHA:568
HP:0031816	Abnormal oral morphology	191	AHCY	OMIM:613752
HP:0031816	Abnormal oral morphology	191	AHCY	ORPHA:88618
HP:0031816	Abnormal oral morphology	64359	NXN	OMIM:618529
HP:0031816	Abnormal oral morphology	64359	NXN	ORPHA:1507
HP:0031816	Abnormal oral morphology	284252	KCTD1	ORPHA:2036
HP:0031816	Abnormal oral morphology	10908	PNPLA6	ORPHA:3363
HP:0031816	Abnormal oral morphology	4920	ROR2	ORPHA:1507
HP:0031816	Abnormal oral morphology	7840	ALMS1	OMIM:203800
HP:0031816	Abnormal oral morphology	546	ATRX	ORPHA:847
HP:0031816	Abnormal oral morphology	83550	GPR101	ORPHA:963
HP:0031816	Abnormal oral morphology	9049	AIP	ORPHA:963
HP:0031816	Abnormal oral morphology	5339	PLEC	ORPHA:79401
HP:0031816	Abnormal oral morphology	7020	TFAP2A	OMIM:113620
HP:0031816	Abnormal oral morphology	5566	PRKACA	ORPHA:289
HP:0031816	Abnormal oral morphology	5567	PRKACB	ORPHA:289
HP:0031816	Abnormal oral morphology	2735	GLI1	ORPHA:289
HP:0031816	Abnormal oral morphology	2121	EVC	ORPHA:289
HP:0031816	Abnormal oral morphology	2121	EVC	ORPHA:952
HP:0031816	Abnormal oral morphology	51626	DYNC2LI1	ORPHA:289
HP:0031816	Abnormal oral morphology	132884	EVC2	ORPHA:289
HP:0031816	Abnormal oral morphology	132884	EVC2	ORPHA:952
HP:0031816	Abnormal oral morphology	1281	COL3A1	ORPHA:286
HP:0031816	Abnormal oral morphology	81848	SPRY4	OMIM:615266
HP:0031816	Abnormal oral morphology	81848	SPRY4	ORPHA:432
HP:0031816	Abnormal oral morphology	1848	DUSP6	OMIM:615269
HP:0031816	Abnormal oral morphology	1848	DUSP6	ORPHA:432
HP:0031816	Abnormal oral morphology	54756	IL17RD	OMIM:615267
HP:0031816	Abnormal oral morphology	23461	ABCA5	ORPHA:2026
HP:0031816	Abnormal oral morphology	1009	CDH11	ORPHA:1299
HP:0031816	Abnormal oral morphology	175	AGA	ORPHA:93
HP:0031816	Abnormal oral morphology	4853	NOTCH2	ORPHA:955
HP:0031816	Abnormal oral morphology	9487	PIGL	ORPHA:3474
HP:0031816	Abnormal oral morphology	4053	LTBP2	OMIM:251750
HP:0031816	Abnormal oral morphology	3981	LIG4	ORPHA:235
HP:0031816	Abnormal oral morphology	54888	NSUN2	ORPHA:235
HP:0031816	Abnormal oral morphology	10804	GJB6	ORPHA:477
HP:0031816	Abnormal oral morphology	10804	GJB6	OMIM:129500
HP:0031816	Abnormal oral morphology	2706	GJB2	ORPHA:477
HP:0031816	Abnormal oral morphology	3043	HBB	ORPHA:231214
HP:0031816	Abnormal oral morphology	3043	HBB	ORPHA:231226
HP:0031816	Abnormal oral morphology	51604	PIGT	OMIM:615398
HP:0031816	Abnormal oral morphology	6774	STAT3	OMIM:615952
HP:0031816	Abnormal oral morphology	6774	STAT3	ORPHA:2314
HP:0031816	Abnormal oral morphology	1041	CDSN	ORPHA:90368
HP:0031816	Abnormal oral morphology	1041	CDSN	OMIM:146520
HP:0031816	Abnormal oral morphology	4803	NGF	ORPHA:64752
HP:0031816	Abnormal oral morphology	4914	NTRK1	ORPHA:64752
HP:0031816	Abnormal oral morphology	8239	USP9X	ORPHA:480880
HP:0031816	Abnormal oral morphology	8239	USP9X	OMIM:300968
HP:0031816	Abnormal oral morphology	5189	PEX1	ORPHA:3220
HP:0031816	Abnormal oral morphology	5190	PEX6	ORPHA:3220
HP:0031816	Abnormal oral morphology	2517	FUCA1	ORPHA:349
HP:0031816	Abnormal oral morphology	79228	THOC6	ORPHA:363444
HP:0031816	Abnormal oral morphology	79813	EHMT1	ORPHA:261652
HP:0031816	Abnormal oral morphology	58508	KMT2C	ORPHA:261652
HP:0031816	Abnormal oral morphology	9533	POLR1C	OMIM:616494
HP:0031816	Abnormal oral morphology	9533	POLR1C	ORPHA:861
HP:0031816	Abnormal oral morphology	4982	TNFRSF11B	ORPHA:2801
HP:0031816	Abnormal oral morphology	8792	TNFRSF11A	ORPHA:2801
HP:0031816	Abnormal oral morphology	2263	FGFR2	ORPHA:2363
HP:0031816	Abnormal oral morphology	2261	FGFR3	ORPHA:2363
HP:0031816	Abnormal oral morphology	2255	FGF10	ORPHA:2363
HP:0031816	Abnormal oral morphology	11128	POLR3A	ORPHA:3455
HP:0031816	Abnormal oral morphology	11107	PRDM5	ORPHA:90354
HP:0031816	Abnormal oral morphology	84627	ZNF469	ORPHA:90354
HP:0031816	Abnormal oral morphology	3481	IGF2	ORPHA:2128
HP:0031816	Abnormal oral morphology	10984	KCNQ1OT1	ORPHA:2128
HP:0031816	Abnormal oral morphology	283120	H19	ORPHA:2128
HP:0031816	Abnormal oral morphology	5308	PITX2	OMIM:137600
HP:0031816	Abnormal oral morphology	3977	LIFR	ORPHA:3206
HP:0031816	Abnormal oral morphology	3930	LBR	OMIM:169400
HP:0031816	Abnormal oral morphology	1832	DSP	OMIM:612908
HP:0031816	Abnormal oral morphology	1186	CLCN7	ORPHA:53
HP:0031816	Abnormal oral morphology	1186	CLCN7	ORPHA:210110
HP:0031816	Abnormal oral morphology	3861	KRT14	ORPHA:69087
HP:0031816	Abnormal oral morphology	3861	KRT14	ORPHA:79397
HP:0031816	Abnormal oral morphology	3861	KRT14	ORPHA:79399
HP:0031816	Abnormal oral morphology	2629	GBA1	ORPHA:77261
HP:0031816	Abnormal oral morphology	60529	ALX4	ORPHA:228390
HP:0031816	Abnormal oral morphology	4212	MEIS2	ORPHA:261190
HP:0031816	Abnormal oral morphology	2245	FGD1	ORPHA:915
HP:0031816	Abnormal oral morphology	4204	MECP2	OMIM:312750
HP:0031816	Abnormal oral morphology	84181	CHD6	ORPHA:2108
HP:0031816	Abnormal oral morphology	7189	TRAF6	ORPHA:1810
HP:0031816	Abnormal oral morphology	128178	EDARADD	ORPHA:1810
HP:0031816	Abnormal oral morphology	126695	KDF1	ORPHA:1810
HP:0031816	Abnormal oral morphology	10913	EDAR	ORPHA:1810
HP:0031816	Abnormal oral morphology	2068	ERCC2	ORPHA:910
HP:0031816	Abnormal oral morphology	7507	XPA	ORPHA:910
HP:0031816	Abnormal oral morphology	2071	ERCC3	ORPHA:910
HP:0031816	Abnormal oral morphology	7508	XPC	ORPHA:910
HP:0031816	Abnormal oral morphology	1643	DDB2	ORPHA:910
HP:0031816	Abnormal oral morphology	2073	ERCC5	ORPHA:910
HP:0031816	Abnormal oral morphology	4487	MSX1	ORPHA:2228
HP:0031816	Abnormal oral morphology	7227	TRPS1	ORPHA:77258
HP:0031816	Abnormal oral morphology	7227	TRPS1	ORPHA:502
HP:0031816	Abnormal oral morphology	64132	XYLT2	OMIM:605822
HP:0031816	Abnormal oral morphology	2260	FGFR1	ORPHA:432
HP:0031816	Abnormal oral morphology	128674	PROKR2	ORPHA:432
HP:0031816	Abnormal oral morphology	2253	FGF8	ORPHA:432
HP:0031816	Abnormal oral morphology	60675	PROK2	ORPHA:432
HP:0031816	Abnormal oral morphology	55636	CHD7	ORPHA:432
HP:0031816	Abnormal oral morphology	6870	TACR3	ORPHA:432
HP:0031816	Abnormal oral morphology	26012	NSMF	ORPHA:432
HP:0031816	Abnormal oral morphology	55717	WDR11	ORPHA:432
HP:0031816	Abnormal oral morphology	4808	NHLH2	ORPHA:432
HP:0031816	Abnormal oral morphology	9394	HS6ST1	ORPHA:432
HP:0031816	Abnormal oral morphology	2796	GNRH1	ORPHA:432
HP:0031816	Abnormal oral morphology	2798	GNRHR	ORPHA:432
HP:0031816	Abnormal oral morphology	84634	KISS1R	ORPHA:432
HP:0031816	Abnormal oral morphology	6866	TAC3	ORPHA:432
HP:0031816	Abnormal oral morphology	8822	FGF17	ORPHA:432
HP:0031816	Abnormal oral morphology	3814	KISS1	ORPHA:432
HP:0031816	Abnormal oral morphology	147495	APCDD1	OMIM:605389
HP:0031816	Abnormal oral morphology	22856	CHSY1	ORPHA:363417
HP:0031816	Abnormal oral morphology	2335	FN1	ORPHA:93315
HP:0031816	Abnormal oral morphology	9150	CTDP1	OMIM:604168
HP:0031816	Abnormal oral morphology	6651	SON	OMIM:617140
HP:0031816	Abnormal oral morphology	113179	ADAT3	ORPHA:363528
HP:0031816	Abnormal oral morphology	23586	RIGI	OMIM:616298
HP:0031816	Abnormal oral morphology	9342	SNAP29	ORPHA:66631
HP:0031816	Abnormal oral morphology	5167	ENPP1	OMIM:615522
HP:0031816	Abnormal oral morphology	6144	RPL21	OMIM:615885
HP:0031816	Abnormal oral morphology	6905	TBCE	ORPHA:2323
HP:0031816	Abnormal oral morphology	55784	MCTP2	ORPHA:1596
HP:0031816	Abnormal oral morphology	1825	DSC3	OMIM:613102
HP:0031816	Abnormal oral morphology	8085	KMT2D	ORPHA:2322
HP:0031816	Abnormal oral morphology	8085	KMT2D	OMIM:147920
HP:0031816	Abnormal oral morphology	7403	KDM6A	ORPHA:2322
HP:0031816	Abnormal oral morphology	7403	KDM6A	OMIM:147920
HP:0031816	Abnormal oral morphology	51360	MBTPS2	ORPHA:659
HP:0031816	Abnormal oral morphology	162514	TRPV3	ORPHA:659
HP:0031816	Abnormal oral morphology	64065	PERP	ORPHA:659
HP:0031816	Abnormal oral morphology	4000	LMNA	ORPHA:90153
HP:0031816	Abnormal oral morphology	51114	ZDHHC9	ORPHA:776
HP:0031816	Abnormal oral morphology	65109	UPF3B	ORPHA:776
HP:0031816	Abnormal oral morphology	9968	MED12	ORPHA:776
HP:0031816	Abnormal oral morphology	10269	ZMPSTE24	ORPHA:90154
HP:0031816	Abnormal oral morphology	4952	OCRL	ORPHA:534
HP:0031816	Abnormal oral morphology	526	ATP6V1B2	ORPHA:79499
HP:0031816	Abnormal oral morphology	526	ATP6V1B2	ORPHA:79500
HP:0031816	Abnormal oral morphology	147409	DSG4	ORPHA:573
HP:0031816	Abnormal oral morphology	3892	KRT86	ORPHA:573
HP:0031816	Abnormal oral morphology	3889	KRT83	ORPHA:573
HP:0031816	Abnormal oral morphology	3889	KRT83	OMIM:617756
HP:0031816	Abnormal oral morphology	3887	KRT81	ORPHA:573
HP:0031816	Abnormal oral morphology	8260	NAA10	OMIM:300855
HP:0031816	Abnormal oral morphology	8260	NAA10	ORPHA:568
HP:0031816	Abnormal oral morphology	55603	TENT5A	OMIM:617952
HP:0031816	Abnormal oral morphology	92344	GORAB	OMIM:231070
HP:0031816	Abnormal oral morphology	1312	COMT	ORPHA:567
HP:0031816	Abnormal oral morphology	221037	JMJD1C	ORPHA:567
HP:0031816	Abnormal oral morphology	2812	GP1BB	ORPHA:567
HP:0031816	Abnormal oral morphology	6239	RREB1	ORPHA:567
HP:0031816	Abnormal oral morphology	7290	HIRA	ORPHA:567
HP:0031816	Abnormal oral morphology	9632	SEC24C	ORPHA:567
HP:0031816	Abnormal oral morphology	7353	UFD1	ORPHA:567
HP:0031816	Abnormal oral morphology	421	ARVCF	ORPHA:567
HP:0031816	Abnormal oral morphology	197131	UBR1	ORPHA:2315
HP:0031816	Abnormal oral morphology	1001	CDH3	OMIM:601553
HP:0031816	Abnormal oral morphology	3265	HRAS	ORPHA:3071
HP:0031816	Abnormal oral morphology	7703	PCGF2	OMIM:618371
HP:0031816	Abnormal oral morphology	25942	SIN3A	ORPHA:94065
HP:0031816	Abnormal oral morphology	25942	SIN3A	ORPHA:500166
HP:0031816	Abnormal oral morphology	8985	PLOD3	OMIM:612394
HP:0031816	Abnormal oral morphology	860	RUNX2	ORPHA:1452
HP:0031816	Abnormal oral morphology	151516	ASPRV1	ORPHA:313
HP:0031816	Abnormal oral morphology	242	ALOX12B	ORPHA:313
HP:0031816	Abnormal oral morphology	126410	CYP4F22	ORPHA:313
HP:0031816	Abnormal oral morphology	6820	SULT2B1	ORPHA:313
HP:0031816	Abnormal oral morphology	26154	ABCA12	ORPHA:313
HP:0031816	Abnormal oral morphology	643418	LIPN	ORPHA:313
HP:0031816	Abnormal oral morphology	59344	ALOXE3	ORPHA:313
HP:0031816	Abnormal oral morphology	348938	NIPAL4	ORPHA:313
HP:0031816	Abnormal oral morphology	121214	SDR9C7	ORPHA:313
HP:0031816	Abnormal oral morphology	7051	TGM1	ORPHA:313
HP:0031816	Abnormal oral morphology	760	CA2	ORPHA:2785
HP:0031816	Abnormal oral morphology	1075	CTSC	ORPHA:678
HP:0031816	Abnormal oral morphology	80185	TTI2	ORPHA:391307
HP:0031816	Abnormal oral morphology	9791	PTDSS1	OMIM:151050
HP:0031816	Abnormal oral morphology	10312	TCIRG1	ORPHA:210110
HP:0031816	Abnormal oral morphology	9842	PLEKHM1	ORPHA:210110
HP:0031816	Abnormal oral morphology	200879	LIPH	OMIM:604379
HP:0031816	Abnormal oral morphology	10664	CTCF	ORPHA:363611
HP:0031816	Abnormal oral morphology	29957	SLC25A24	ORPHA:2095
HP:0031816	Abnormal oral morphology	157680	VPS13B	ORPHA:193
HP:0031816	Abnormal oral morphology	64840	PORCN	ORPHA:2092
HP:0031816	Abnormal oral morphology	9401	RECQL4	ORPHA:221016
HP:0031816	Abnormal oral morphology	79574	EPS8L3	OMIM:612841
HP:0031816	Abnormal oral morphology	4810	NHS	ORPHA:627
HP:0031816	Abnormal oral morphology	4796	TONSL	OMIM:271510
HP:0031816	Abnormal oral morphology	57465	TBC1D24	ORPHA:79500
HP:0031816	Abnormal oral morphology	189	AGXT	ORPHA:93598
HP:0031816	Abnormal oral morphology	2131	EXT1	ORPHA:502
HP:0031816	Abnormal oral morphology	5885	RAD21	ORPHA:502
HP:0031816	Abnormal oral morphology	84172	POLR1B	ORPHA:861
HP:0031816	Abnormal oral morphology	51082	POLR1D	ORPHA:861
HP:0031816	Abnormal oral morphology	6949	TCOF1	ORPHA:861
HP:0031816	Abnormal oral morphology	6452	SH3BP2	ORPHA:184
HP:0031816	Abnormal oral morphology	79983	POF1B	OMIM:300604
HP:0031816	Abnormal oral morphology	7204	TRIO	ORPHA:476126
HP:0031816	Abnormal oral morphology	10161	LPAR6	OMIM:278150
HP:0031816	Abnormal oral morphology	8626	TP63	ORPHA:978
HP:0031816	Abnormal oral morphology	60681	FKBP10	OMIM:259450
HP:0031816	Abnormal oral morphology	4094	MAF	OMIM:601088
HP:0031816	Abnormal oral morphology	84905	ZNF341	OMIM:618282
HP:0031816	Abnormal oral morphology	5295	PIK3R1	ORPHA:3163
HP:0031816	Abnormal oral morphology	5317	PKP1	ORPHA:158668
HP:0031816	Abnormal oral morphology	89970	RSPRY1	ORPHA:457395
HP:0031816	Abnormal oral morphology	1387	CREBBP	ORPHA:592574
HP:0031816	Abnormal oral morphology	3643	INSR	ORPHA:769
HP:0031816	Abnormal oral morphology	8481	OFD1	ORPHA:2750
HP:0031816	Abnormal oral morphology	5286	PIK3C2A	ORPHA:557003
HP:0031816	Abnormal oral morphology	1513	CTSK	ORPHA:763
HP:0031816	Abnormal oral morphology	23309	SIN3B	ORPHA:500166
HP:0031816	Abnormal oral morphology	65057	ACD	OMIM:616553
HP:0031816	Abnormal oral morphology	80169	CTC1	ORPHA:1775
HP:0031816	Abnormal oral morphology	26277	TINF2	ORPHA:1775
HP:0031816	Abnormal oral morphology	55651	NHP2	ORPHA:1775
HP:0031816	Abnormal oral morphology	79650	USB1	ORPHA:1775
HP:0031816	Abnormal oral morphology	55135	WRAP53	ORPHA:1775
HP:0031816	Abnormal oral morphology	51750	RTEL1	ORPHA:1775
HP:0031816	Abnormal oral morphology	4869	NPM1	ORPHA:1775
HP:0031816	Abnormal oral morphology	7012	TERC	ORPHA:1775
HP:0031816	Abnormal oral morphology	55505	NOP10	ORPHA:1775
HP:0031816	Abnormal oral morphology	5073	PARN	ORPHA:1775
HP:0031816	Abnormal oral morphology	1736	DKC1	ORPHA:1775
HP:0031816	Abnormal oral morphology	8074	FGF23	OMIM:193100
HP:0031816	Abnormal oral morphology	3229	HOXC13	OMIM:614931
HP:0031816	Abnormal oral morphology	79693	YRDC	ORPHA:2065
HP:0031816	Abnormal oral morphology	51002	TPRKB	ORPHA:2065
HP:0031816	Abnormal oral morphology	84942	WDR73	ORPHA:2065
HP:0031816	Abnormal oral morphology	55644	OSGEP	ORPHA:2065
HP:0031816	Abnormal oral morphology	57122	NUP107	ORPHA:2065
HP:0031816	Abnormal oral morphology	10785	WDR4	ORPHA:2065
HP:0031816	Abnormal oral morphology	55746	NUP133	ORPHA:2065
HP:0031816	Abnormal oral morphology	84520	GON7	ORPHA:2065
HP:0031816	Abnormal oral morphology	112858	TP53RK	ORPHA:2065
HP:0031816	Abnormal oral morphology	8270	LAGE3	ORPHA:2065
HP:0031816	Abnormal oral morphology	3852	KRT5	ORPHA:79397
HP:0031816	Abnormal oral morphology	3852	KRT5	ORPHA:79399
HP:0031816	Abnormal oral morphology	25886	POC1A	OMIM:614813
HP:0031816	Abnormal oral morphology	3762	KCNJ5	ORPHA:37553
HP:0031816	Abnormal oral morphology	3759	KCNJ2	ORPHA:37553
HP:0031816	Abnormal oral morphology	4322	MMP13	ORPHA:2501
HP:0031816	Abnormal oral morphology	64682	ANAPC1	ORPHA:221008
HP:0031816	Abnormal oral morphology	847	CAT	ORPHA:926
HP:0031816	Abnormal oral morphology	7852	CXCR4	ORPHA:51636
HP:0031816	Abnormal oral morphology	4221	MEN1	ORPHA:652
HP:0031816	Abnormal oral morphology	1027	CDKN1B	ORPHA:652
HP:0031816	Abnormal oral morphology	1026	CDKN1A	ORPHA:652
HP:0031816	Abnormal oral morphology	1030	CDKN2B	ORPHA:652
HP:0031816	Abnormal oral morphology	1031	CDKN2C	ORPHA:652
HP:0031816	Abnormal oral morphology	3458	IFNG	OMIM:613254
HP:0031816	Abnormal oral morphology	7249	TSC2	OMIM:613254
HP:0031816	Abnormal oral morphology	5978	REST	ORPHA:2024
HP:0031816	Abnormal oral morphology	5978	REST	OMIM:617626
HP:0031816	Abnormal oral morphology	7248	TSC1	OMIM:191100
HP:0031816	Abnormal oral morphology	84823	LMNB2	OMIM:616540
HP:0031816	Abnormal oral morphology	123606	NIPA1	ORPHA:261183
HP:0031816	Abnormal oral morphology	7283	TUBG1	ORPHA:261183
HP:0031816	Abnormal oral morphology	81614	NIPA2	ORPHA:261183
HP:0031816	Abnormal oral morphology	25885	POLR1A	ORPHA:1200
HP:0031816	Abnormal oral morphology	10907	TXNL4A	ORPHA:1200
HP:0031816	Abnormal oral morphology	6925	TCF4	ORPHA:2896
HP:0031816	Abnormal oral morphology	1303	COL12A1	ORPHA:75840
HP:0031816	Abnormal oral morphology	1291	COL6A1	ORPHA:75840
HP:0031816	Abnormal oral morphology	1292	COL6A2	ORPHA:75840
HP:0031816	Abnormal oral morphology	1293	COL6A3	ORPHA:75840
HP:0031816	Abnormal oral morphology	1654	DDX3X	ORPHA:3338
HP:0031816	Abnormal oral morphology	114548	NLRP3	ORPHA:575
HP:0031816	Abnormal oral morphology	26137	ZBTB20	ORPHA:3042
HP:0031816	Abnormal oral morphology	55670	PEX26	ORPHA:44
HP:0031816	Abnormal oral morphology	5824	PEX19	ORPHA:44
HP:0031816	Abnormal oral morphology	5828	PEX2	ORPHA:44
HP:0031816	Abnormal oral morphology	8504	PEX3	ORPHA:44
HP:0031816	Abnormal oral morphology	9409	PEX16	ORPHA:44
HP:0031816	Abnormal oral morphology	8799	PEX11B	ORPHA:44
HP:0031816	Abnormal oral morphology	5830	PEX5	ORPHA:44
HP:0031816	Abnormal oral morphology	5193	PEX12	ORPHA:44
HP:0031816	Abnormal oral morphology	5194	PEX13	ORPHA:44
HP:0031816	Abnormal oral morphology	5195	PEX14	ORPHA:44
HP:0031816	Abnormal oral morphology	5192	PEX10	ORPHA:44
HP:0031816	Abnormal oral morphology	6023	RMRP	ORPHA:175
HP:0031816	Abnormal oral morphology	9326	ZNHIT3	ORPHA:2836
HP:0031816	Abnormal oral morphology	50945	TBX22	ORPHA:921
HP:0031816	Abnormal oral morphology	538	ATP7A	ORPHA:565
HP:0031816	Abnormal oral morphology	10262	SF3B4	ORPHA:245
HP:0031816	Abnormal oral morphology	9896	FIG4	ORPHA:208441
HP:0031816	Abnormal oral morphology	23028	KDM1A	ORPHA:477993
HP:0031816	Abnormal oral morphology	8036	SHOC2	ORPHA:2701
HP:0031816	Abnormal oral morphology	5500	PPP1CB	ORPHA:2701
HP:0031816	Abnormal oral morphology	267010	RNU12	ORPHA:85199
HP:0031816	Abnormal oral morphology	84168	ANTXR1	ORPHA:2067
HP:0031816	Abnormal oral morphology	2313	FLI1	ORPHA:2308
HP:0031816	Abnormal oral morphology	1718	DHCR24	OMIM:602398
HP:0031816	Abnormal oral morphology	1718	DHCR24	ORPHA:35107
HP:0031816	Abnormal oral morphology	85465	SELENOI	ORPHA:506353
HP:0031816	Abnormal oral morphology	85465	SELENOI	OMIM:618768
HP:0031816	Abnormal oral morphology	10617	STAMBP	OMIM:614261
HP:0031816	Abnormal oral morphology	29925	GMPPB	OMIM:615350
HP:0031816	Abnormal oral morphology	91452	ACBD5	OMIM:618863
HP:0031816	Abnormal oral morphology	2304	FOXE1	OMIM:241850
HP:0031816	Abnormal oral morphology	2304	FOXE1	ORPHA:1226
HP:0031816	Abnormal oral morphology	10973	ASCC3	OMIM:620700
HP:0031816	Abnormal oral morphology	81857	MED25	OMIM:616449
HP:0031816	Abnormal oral morphology	81857	MED25	ORPHA:464738
HP:0031816	Abnormal oral morphology	1836	SLC26A2	ORPHA:56304
HP:0031816	Abnormal oral morphology	1836	SLC26A2	ORPHA:628
HP:0031816	Abnormal oral morphology	1836	SLC26A2	OMIM:256050
HP:0031816	Abnormal oral morphology	1836	SLC26A2	ORPHA:93307
HP:0031816	Abnormal oral morphology	1836	SLC26A2	OMIM:222600
HP:0031816	Abnormal oral morphology	6662	SOX9	ORPHA:140
HP:0031816	Abnormal oral morphology	6662	SOX9	OMIM:114290
HP:0031816	Abnormal oral morphology	6662	SOX9	ORPHA:718
HP:0031816	Abnormal oral morphology	1723	DHODH	OMIM:263750
HP:0031816	Abnormal oral morphology	1723	DHODH	ORPHA:246
HP:0031816	Abnormal oral morphology	2782	GNB1	ORPHA:488613
HP:0031816	Abnormal oral morphology	2782	GNB1	OMIM:616973
HP:0031816	Abnormal oral morphology	84466	MEGF10	OMIM:614399
HP:0031816	Abnormal oral morphology	84466	MEGF10	OMIM:620249
HP:0031816	Abnormal oral morphology	72	ACTG2	ORPHA:2604
HP:0031816	Abnormal oral morphology	10084	PQBP1	ORPHA:93946
HP:0031816	Abnormal oral morphology	10084	PQBP1	OMIM:309500
HP:0031816	Abnormal oral morphology	9723	SEMA3E	ORPHA:138
HP:0031816	Abnormal oral morphology	55650	PIGV	OMIM:239300
HP:0031816	Abnormal oral morphology	7994	KAT6A	ORPHA:457193
HP:0031816	Abnormal oral morphology	7994	KAT6A	OMIM:616268
HP:0031816	Abnormal oral morphology	5191	PEX7	OMIM:215100
HP:0031816	Abnormal oral morphology	7291	TWIST1	OMIM:101400
HP:0031816	Abnormal oral morphology	7291	TWIST1	ORPHA:794
HP:0031816	Abnormal oral morphology	6491	STIL	ORPHA:93926
HP:0031816	Abnormal oral morphology	6491	STIL	ORPHA:93924
HP:0031816	Abnormal oral morphology	6491	STIL	ORPHA:93925
HP:0031816	Abnormal oral morphology	6491	STIL	ORPHA:220386
HP:0031816	Abnormal oral morphology	2773	GNAI3	OMIM:602483
HP:0031816	Abnormal oral morphology	2773	GNAI3	ORPHA:137888
HP:0031816	Abnormal oral morphology	3476	IGBP1	ORPHA:52055
HP:0031816	Abnormal oral morphology	57167	SALL4	ORPHA:233
HP:0031816	Abnormal oral morphology	9935	MAFB	ORPHA:233
HP:0031816	Abnormal oral morphology	1123	CHN1	ORPHA:233
HP:0031816	Abnormal oral morphology	79659	DYNC2H1	OMIM:613091
HP:0031816	Abnormal oral morphology	54539	NDUFB11	OMIM:309801
HP:0031816	Abnormal oral morphology	1349	COX7B	OMIM:309801
HP:0031816	Abnormal oral morphology	3052	HCCS	OMIM:309801
HP:0031816	Abnormal oral morphology	63895	PIEZO2	OMIM:114300
HP:0031816	Abnormal oral morphology	63895	PIEZO2	ORPHA:376
HP:0031816	Abnormal oral morphology	63895	PIEZO2	OMIM:248700
HP:0031816	Abnormal oral morphology	63895	PIEZO2	ORPHA:2461
HP:0031816	Abnormal oral morphology	1909	EDNRA	OMIM:616367
HP:0031816	Abnormal oral morphology	5979	RET	ORPHA:1848
HP:0031816	Abnormal oral morphology	8516	ITGA8	ORPHA:1848
HP:0031816	Abnormal oral morphology	26281	FGF20	ORPHA:1848
HP:0031816	Abnormal oral morphology	2674	GFRA1	ORPHA:1848
HP:0031816	Abnormal oral morphology	7484	WNT9B	ORPHA:1848
HP:0031816	Abnormal oral morphology	80000	GREB1L	ORPHA:1848
HP:0031816	Abnormal oral morphology	5925	RB1	OMIM:180200
HP:0031816	Abnormal oral morphology	147912	SIX5	ORPHA:107
HP:0031816	Abnormal oral morphology	54928	BPNT2	OMIM:614078
HP:0031816	Abnormal oral morphology	57492	ARID1B	ORPHA:251056
HP:0031816	Abnormal oral morphology	57492	ARID1B	OMIM:135900
HP:0031816	Abnormal oral morphology	57688	ZSWIM6	OMIM:603671
HP:0031816	Abnormal oral morphology	1749	DLX5	OMIM:183600
HP:0031816	Abnormal oral morphology	2556	GABRA3	OMIM:301091
HP:0031816	Abnormal oral morphology	55120	FANCL	OMIM:614083
HP:0031816	Abnormal oral morphology	55120	FANCL	ORPHA:84
HP:0031816	Abnormal oral morphology	9319	TRIP13	OMIM:617598
HP:0031816	Abnormal oral morphology	9319	TRIP13	ORPHA:1052
HP:0031816	Abnormal oral morphology	2303	FOXC2	ORPHA:33001
HP:0031816	Abnormal oral morphology	2303	FOXC2	OMIM:153400
HP:0031816	Abnormal oral morphology	2317	FLNB	OMIM:272460
HP:0031816	Abnormal oral morphology	2317	FLNB	ORPHA:503
HP:0031816	Abnormal oral morphology	2317	FLNB	ORPHA:1190
HP:0031816	Abnormal oral morphology	2317	FLNB	OMIM:108721
HP:0031816	Abnormal oral morphology	2317	FLNB	OMIM:108720
HP:0031816	Abnormal oral morphology	2317	FLNB	OMIM:150250
HP:0031816	Abnormal oral morphology	257	ALX3	ORPHA:391474
HP:0031816	Abnormal oral morphology	25970	SH2B1	ORPHA:261197
HP:0031816	Abnormal oral morphology	9427	ECEL1	OMIM:615065
HP:0031816	Abnormal oral morphology	29968	PSAT1	OMIM:616038
HP:0031816	Abnormal oral morphology	10801	SEPTIN9	ORPHA:2901
HP:0031816	Abnormal oral morphology	10801	SEPTIN9	OMIM:162100
HP:0031816	Abnormal oral morphology	78987	CRELD1	OMIM:620771
HP:0031816	Abnormal oral morphology	3736	KCNA1	ORPHA:1934
HP:0031816	Abnormal oral morphology	9091	PIGQ	ORPHA:1934
HP:0031816	Abnormal oral morphology	140679	SLC32A1	ORPHA:1934
HP:0031816	Abnormal oral morphology	2775	GNAO1	ORPHA:1934
HP:0031816	Abnormal oral morphology	81603	TRIM8	ORPHA:1934
HP:0031816	Abnormal oral morphology	2902	GRIN1	ORPHA:1934
HP:0031816	Abnormal oral morphology	79751	SLC25A22	ORPHA:1934
HP:0031816	Abnormal oral morphology	150094	SIK1	ORPHA:1934
HP:0031816	Abnormal oral morphology	8573	CASK	ORPHA:1934
HP:0031816	Abnormal oral morphology	23312	DMXL2	ORPHA:1934
HP:0031816	Abnormal oral morphology	2917	GRM7	ORPHA:1934
HP:0031816	Abnormal oral morphology	170302	ARX	ORPHA:1934
HP:0031816	Abnormal oral morphology	11284	PNKP	ORPHA:1934
HP:0031816	Abnormal oral morphology	6326	SCN2A	ORPHA:1934
HP:0031816	Abnormal oral morphology	51227	PIGP	ORPHA:1934
HP:0031816	Abnormal oral morphology	6324	SCN1B	ORPHA:1934
HP:0031816	Abnormal oral morphology	4761	NEUROD2	ORPHA:1934
HP:0031816	Abnormal oral morphology	1801	DPH1	ORPHA:459061
HP:0031816	Abnormal oral morphology	1802	DPH2	ORPHA:459061
HP:0031816	Abnormal oral morphology	10371	SEMA3A	ORPHA:478
HP:0031816	Abnormal oral morphology	79625	NDNF	ORPHA:478
HP:0031816	Abnormal oral morphology	389549	FEZF1	ORPHA:478
HP:0031816	Abnormal oral morphology	1630	DCC	ORPHA:478
HP:0031816	Abnormal oral morphology	3730	ANOS1	ORPHA:478
HP:0031816	Abnormal oral morphology	6663	SOX10	ORPHA:478
HP:0031816	Abnormal oral morphology	285025	CCDC141	ORPHA:478
HP:0031816	Abnormal oral morphology	8820	HESX1	ORPHA:478
HP:0031816	Abnormal oral morphology	8820	HESX1	ORPHA:3157
HP:0031816	Abnormal oral morphology	5396	PRRX1	OMIM:202650
HP:0031816	Abnormal oral morphology	253738	EBF3	ORPHA:96148
HP:0031816	Abnormal oral morphology	4703	NEB	OMIM:256030
HP:0031816	Abnormal oral morphology	84320	ACBD6	OMIM:620785
HP:0031816	Abnormal oral morphology	23114	NFASC	OMIM:618356
HP:0031816	Abnormal oral morphology	29954	POMT2	OMIM:236670
HP:0031816	Abnormal oral morphology	29954	POMT2	ORPHA:899
HP:0031816	Abnormal oral morphology	29954	POMT2	OMIM:613150
HP:0031816	Abnormal oral morphology	79147	FKRP	OMIM:236670
HP:0031816	Abnormal oral morphology	79147	FKRP	ORPHA:899
HP:0031816	Abnormal oral morphology	2218	FKTN	OMIM:236670
HP:0031816	Abnormal oral morphology	2218	FKTN	ORPHA:899
HP:0031816	Abnormal oral morphology	10585	POMT1	OMIM:236670
HP:0031816	Abnormal oral morphology	10585	POMT1	ORPHA:899
HP:0031816	Abnormal oral morphology	9215	LARGE1	OMIM:236670
HP:0031816	Abnormal oral morphology	9215	LARGE1	ORPHA:899
HP:0031816	Abnormal oral morphology	84892	POMGNT2	ORPHA:899
HP:0031816	Abnormal oral morphology	148789	B3GALNT2	ORPHA:899
HP:0031816	Abnormal oral morphology	1282	COL4A1	ORPHA:899
HP:0031816	Abnormal oral morphology	729920	CRPPA	ORPHA:899
HP:0031816	Abnormal oral morphology	10329	RXYLT1	ORPHA:899
HP:0031816	Abnormal oral morphology	1605	DAG1	ORPHA:899
HP:0031816	Abnormal oral morphology	11041	B4GAT1	ORPHA:899
HP:0031816	Abnormal oral morphology	84197	POMK	ORPHA:899
HP:0031816	Abnormal oral morphology	55624	POMGNT1	ORPHA:899
HP:0031816	Abnormal oral morphology	56975	FAM20C	OMIM:259775
HP:0031816	Abnormal oral morphology	5980	REV3L	ORPHA:570
HP:0031816	Abnormal oral morphology	23129	PLXND1	ORPHA:570
HP:0031816	Abnormal oral morphology	50619	DEF6	OMIM:619573
HP:0031816	Abnormal oral morphology	340665	CYP26C1	ORPHA:398189
HP:0031816	Abnormal oral morphology	84314	TMEM107	ORPHA:564
HP:0031816	Abnormal oral morphology	57096	RPGRIP1	ORPHA:564
HP:0031816	Abnormal oral morphology	79770	TXNDC15	ORPHA:564
HP:0031816	Abnormal oral morphology	372	ARCN1	OMIM:617164
HP:0031816	Abnormal oral morphology	23522	KAT6B	OMIM:603736
HP:0031816	Abnormal oral morphology	1822	ATN1	OMIM:618494
HP:0031816	Abnormal oral morphology	9734	HDAC9	OMIM:620457
HP:0031816	Abnormal oral morphology	8883	NAE1	OMIM:620210
HP:0031816	Abnormal oral morphology	9343	EFTUD2	OMIM:610536
HP:0031816	Abnormal oral morphology	9343	EFTUD2	ORPHA:79113
HP:0031816	Abnormal oral morphology	55605	KIF21A	ORPHA:994
HP:0031816	Abnormal oral morphology	4927	NUP88	ORPHA:994
HP:0031816	Abnormal oral morphology	7846	TUBA1A	ORPHA:994
HP:0031816	Abnormal oral morphology	4654	MYOD1	ORPHA:994
HP:0031816	Abnormal oral morphology	4654	MYOD1	OMIM:618975
HP:0031816	Abnormal oral morphology	54551	MAGEL2	ORPHA:994
HP:0031816	Abnormal oral morphology	4593	MUSK	ORPHA:994
HP:0031816	Abnormal oral morphology	4593	MUSK	OMIM:208150
HP:0031816	Abnormal oral morphology	5913	RAPSN	ORPHA:994
HP:0031816	Abnormal oral morphology	5913	RAPSN	OMIM:618388
HP:0031816	Abnormal oral morphology	6572	SLC18A3	ORPHA:994
HP:0031816	Abnormal oral morphology	285489	DOK7	ORPHA:994
HP:0031816	Abnormal oral morphology	6611	SMS	ORPHA:3063
HP:0031816	Abnormal oral morphology	6611	SMS	OMIM:309583
HP:0031816	Abnormal oral morphology	2033	EP300	OMIM:180849
HP:0031816	Abnormal oral morphology	57514	ARHGAP31	OMIM:100300
HP:0031816	Abnormal oral morphology	2254	FGF9	OMIM:612961
HP:0031816	Abnormal oral morphology	10413	YAP1	OMIM:120433
HP:0031816	Abnormal oral morphology	246329	STAC3	ORPHA:168572
HP:0031816	Abnormal oral morphology	246329	STAC3	OMIM:255995
HP:0031816	Abnormal oral morphology	10653	SPINT2	OMIM:270420
HP:0031816	Abnormal oral morphology	2571	GAD1	OMIM:619124
HP:0031816	Abnormal oral morphology	203068	TUBB	OMIM:156610
HP:0031816	Abnormal oral morphology	203068	TUBB	ORPHA:2505
HP:0031816	Abnormal oral morphology	55640	FLVCR2	OMIM:225790
HP:0031816	Abnormal oral morphology	23169	SLC35D1	OMIM:269250
HP:0031816	Abnormal oral morphology	23169	SLC35D1	ORPHA:3144
HP:0031816	Abnormal oral morphology	22995	CEP152	OMIM:613823
HP:0031816	Abnormal oral morphology	4222	MEOX1	OMIM:214300
HP:0031816	Abnormal oral morphology	4222	MEOX1	ORPHA:2345
HP:0031816	Abnormal oral morphology	126792	B3GALT6	OMIM:271640
HP:0031816	Abnormal oral morphology	126792	B3GALT6	OMIM:615349
HP:0031816	Abnormal oral morphology	1984	EIF5A	OMIM:619376
HP:0031816	Abnormal oral morphology	168667	BMPER	ORPHA:66637
HP:0031816	Abnormal oral morphology	168667	BMPER	OMIM:608022
HP:0031816	Abnormal oral morphology	4683	NBN	ORPHA:647
HP:0031816	Abnormal oral morphology	4683	NBN	OMIM:251260
HP:0031816	Abnormal oral morphology	124454	EARS2	OMIM:614924
HP:0031816	Abnormal oral morphology	3239	HOXD13	ORPHA:887
HP:0031816	Abnormal oral morphology	6913	TBX15	OMIM:260660
HP:0031816	Abnormal oral morphology	6657	SOX2	ORPHA:3157
HP:0031816	Abnormal oral morphology	6658	SOX3	ORPHA:3157
HP:0031816	Abnormal oral morphology	9915	ARNT2	ORPHA:3157
HP:0031816	Abnormal oral morphology	5015	OTX2	ORPHA:3157
HP:0031816	Abnormal oral morphology	5015	OTX2	OMIM:610125
HP:0031816	Abnormal oral morphology	10682	EBP	ORPHA:401973
HP:0031816	Abnormal oral morphology	6399	TRAPPC2	ORPHA:93284
HP:0031816	Abnormal oral morphology	3728	JUP	ORPHA:158687
HP:0031816	Abnormal oral morphology	3636	INPPL1	ORPHA:3144
HP:0031816	Abnormal oral morphology	10992	SF3B2	OMIM:164210
HP:0031816	Abnormal oral morphology	118987	PDZD8	OMIM:620021
HP:0031816	Abnormal oral morphology	613	BCR	ORPHA:261330
HP:0031816	Abnormal oral morphology	1399	CRKL	ORPHA:261330
HP:0031816	Abnormal oral morphology	5594	MAPK1	ORPHA:261330
HP:0031816	Abnormal oral morphology	92579	G6PC3	OMIM:612541
HP:0031816	Abnormal oral morphology	672	BRCA1	ORPHA:84
HP:0031816	Abnormal oral morphology	10459	MAD2L2	ORPHA:84
HP:0031816	Abnormal oral morphology	7516	XRCC2	ORPHA:84
HP:0031816	Abnormal oral morphology	29089	UBE2T	ORPHA:84
HP:0031816	Abnormal oral morphology	675	BRCA2	ORPHA:84
HP:0031816	Abnormal oral morphology	2177	FANCD2	ORPHA:84
HP:0031816	Abnormal oral morphology	2175	FANCA	ORPHA:84
HP:0031816	Abnormal oral morphology	2187	FANCB	ORPHA:84
HP:0031816	Abnormal oral morphology	2176	FANCC	ORPHA:84
HP:0031816	Abnormal oral morphology	2178	FANCE	ORPHA:84
HP:0031816	Abnormal oral morphology	2188	FANCF	ORPHA:84
HP:0031816	Abnormal oral morphology	2189	FANCG	ORPHA:84
HP:0031816	Abnormal oral morphology	5888	RAD51	ORPHA:84
HP:0031816	Abnormal oral morphology	5889	RAD51C	ORPHA:84
HP:0031816	Abnormal oral morphology	55159	RFWD3	ORPHA:84
HP:0031816	Abnormal oral morphology	83990	BRIP1	ORPHA:84
HP:0031816	Abnormal oral morphology	57697	FANCM	ORPHA:84
HP:0031816	Abnormal oral morphology	79728	PALB2	ORPHA:84
HP:0031816	Abnormal oral morphology	84464	SLX4	ORPHA:84
HP:0031816	Abnormal oral morphology	55215	FANCI	ORPHA:84
HP:0031816	Abnormal oral morphology	6597	SMARCA4	OMIM:614609
HP:0031816	Abnormal oral morphology	9184	BUB3	ORPHA:1052
HP:0031816	Abnormal oral morphology	9702	CEP57	ORPHA:1052
HP:0031816	Abnormal oral morphology	701	BUB1B	ORPHA:1052
HP:0031816	Abnormal oral morphology	701	BUB1B	OMIM:257300
HP:0031816	Abnormal oral morphology	1906	EDN1	ORPHA:137888
HP:0031816	Abnormal oral morphology	5332	PLCB4	ORPHA:137888
HP:0031816	Abnormal oral morphology	5332	PLCB4	OMIM:614669
HP:0031816	Abnormal oral morphology	3782	KCNN3	ORPHA:3473
HP:0031816	Abnormal oral morphology	2615	LRRC32	OMIM:619074
HP:0031816	Abnormal oral morphology	392255	GDF6	OMIM:118100
HP:0031816	Abnormal oral morphology	392255	GDF6	ORPHA:2345
HP:0031816	Abnormal oral morphology	4519	MT-CYB	ORPHA:137675
HP:0031816	Abnormal oral morphology	84720	PIGO	OMIM:614749
HP:0031816	Abnormal oral morphology	54499	TMCO1	OMIM:213980
HP:0031816	Abnormal oral morphology	54499	TMCO1	ORPHA:1394
HP:0031816	Abnormal oral morphology	93210	PGAP3	OMIM:615716
HP:0031816	Abnormal oral morphology	1028	CDKN1C	ORPHA:397590
HP:0031816	Abnormal oral morphology	5324	PLAG1	ORPHA:397590
HP:0031816	Abnormal oral morphology	2535	FZD2	OMIM:164745
HP:0031816	Abnormal oral morphology	10324	KLHL41	OMIM:615731
HP:0031816	Abnormal oral morphology	2625	GATA3	ORPHA:2237
HP:0031816	Abnormal oral morphology	11023	VAX1	OMIM:614402
HP:0031816	Abnormal oral morphology	9939	RBM8A	ORPHA:3320
HP:0031816	Abnormal oral morphology	9939	RBM8A	OMIM:274000
HP:0031816	Abnormal oral morphology	5781	PTPN11	OMIM:151100
HP:0031816	Abnormal oral morphology	5781	PTPN11	OMIM:163950
HP:0031816	Abnormal oral morphology	9573	GDF3	ORPHA:2345
HP:0031816	Abnormal oral morphology	1297	COL9A1	ORPHA:250984
HP:0031816	Abnormal oral morphology	1299	COL9A3	ORPHA:250984
HP:0031816	Abnormal oral morphology	1134	CHRNA1	OMIM:253290
HP:0031816	Abnormal oral morphology	1144	CHRND	OMIM:253290
HP:0031816	Abnormal oral morphology	9894	TELO2	OMIM:616954
HP:0031816	Abnormal oral morphology	9894	TELO2	ORPHA:488642
HP:0031816	Abnormal oral morphology	196528	ARID2	OMIM:617808
HP:0031816	Abnormal oral morphology	8216	LZTR1	OMIM:605275
HP:0031816	Abnormal oral morphology	55906	ZC4H2	OMIM:301041
HP:0031816	Abnormal oral morphology	8092	ALX1	OMIM:613456
HP:0031816	Abnormal oral morphology	8092	ALX1	ORPHA:306542
HP:0031816	Abnormal oral morphology	91179	SCARF2	OMIM:600920
HP:0031816	Abnormal oral morphology	4854	NOTCH3	OMIM:130720
HP:0031816	Abnormal oral morphology	5915	RARB	OMIM:615524
HP:0031816	Abnormal oral morphology	10982	MAPRE2	OMIM:616734
HP:0031816	Abnormal oral morphology	10982	MAPRE2	ORPHA:2505
HP:0031816	Abnormal oral morphology	2122	MECOM	OMIM:616738
HP:0031816	Abnormal oral morphology	134701	RIPPLY2	ORPHA:2311
HP:0031816	Abnormal oral morphology	10683	DLL3	ORPHA:2311
HP:0031816	Abnormal oral morphology	3955	LFNG	ORPHA:2311
HP:0031816	Abnormal oral morphology	84667	HES7	ORPHA:2311
HP:0031816	Abnormal oral morphology	145873	MESP2	ORPHA:2311
HP:0031816	Abnormal oral morphology	27315	PGAP2	OMIM:614207
HP:0031816	Abnormal oral morphology	1063	CENPF	OMIM:243605
HP:0031816	Abnormal oral morphology	545	ATR	OMIM:210600
HP:0031816	Abnormal oral morphology	23395	LARS2	OMIM:615300
HP:0031816	Abnormal oral morphology	10046	MAMLD1	ORPHA:95706
HP:0031816	Abnormal oral morphology	367	AR	ORPHA:95706
HP:0031816	Abnormal oral morphology	6638	SNRPN	ORPHA:177907
HP:0031816	Abnormal oral morphology	29980	DONSON	OMIM:251230
HP:0031816	Abnormal oral morphology	3199	HOXA2	OMIM:612290
HP:0031816	Abnormal oral morphology	6911	TBX6	ORPHA:1797
HP:0031816	Abnormal oral morphology	202018	TAPT1	OMIM:616897
HP:0031816	Abnormal oral morphology	59341	TRPV4	ORPHA:2635
HP:0031816	Abnormal oral morphology	7476	WNT7A	ORPHA:2879
HP:0031816	Abnormal oral morphology	55788	LMBRD1	ORPHA:79284
HP:0031816	Abnormal oral morphology	9130	FAM50A	OMIM:300261
HP:0031816	Abnormal oral morphology	9469	CHST3	OMIM:245600
HP:0031816	Abnormal oral morphology	26229	B3GAT3	OMIM:245600
HP:0031816	Abnormal oral morphology	22827	PUF60	OMIM:615583
HP:0031816	Abnormal oral morphology	5604	MAP2K1	OMIM:163950
HP:0031816	Abnormal oral morphology	8452	CUL3	OMIM:619239
HP:0031816	Abnormal oral morphology	23498	HAAO	OMIM:617660
HP:0031816	Abnormal oral morphology	3373	HYAL1	OMIM:601492
HP:0031816	Abnormal oral morphology	51729	WBP11	OMIM:619227
HP:0031816	Abnormal oral morphology	3090	HIC1	ORPHA:531
HP:0031816	Abnormal oral morphology	5048	PAFAH1B1	ORPHA:531
HP:0031816	Abnormal oral morphology	7531	YWHAE	ORPHA:531
HP:0031816	Abnormal oral morphology	129563	DIS3L2	ORPHA:2849
HP:0031816	Abnormal oral morphology	27316	RBMX	OMIM:300238
HP:0031816	Abnormal oral morphology	84282	RNF135	ORPHA:137634
HP:0031816	Abnormal oral morphology	79639	TMEM53	OMIM:619727
HP:0031816	Abnormal oral morphology	23221	RHOBTB2	OMIM:618004
HP:0031816	Abnormal oral morphology	24140	FTSJ1	OMIM:309549
HP:0031816	Abnormal oral morphology	2770	GNAI1	OMIM:619854
HP:0031816	Abnormal oral morphology	9820	CUL7	OMIM:273750
HP:0031816	Abnormal oral morphology	2717	GLA	ORPHA:324
HP:0031816	Abnormal oral morphology	23067	SETD1B	OMIM:619000
HP:0031816	Abnormal oral morphology	7358	UGDH	OMIM:618792
HP:0031816	Abnormal oral morphology	55691	FRMD4A	ORPHA:466688
HP:0031816	Abnormal oral morphology	55331	ACER3	OMIM:617762
HP:0031816	Abnormal oral morphology	55033	FKBP14	OMIM:614557
HP:0031816	Abnormal oral morphology	60386	SLC25A19	ORPHA:99742
HP:0031816	Abnormal oral morphology	23065	EMC1	OMIM:616875
HP:0031816	Abnormal oral morphology	3590	IL11RA	OMIM:614188
HP:0031816	Abnormal oral morphology	9524	TECR	OMIM:614020
HP:0031816	Abnormal oral morphology	22931	RAB18	OMIM:614222
HP:0031816	Abnormal oral morphology	54973	INTS11	OMIM:620428
HP:0031816	Abnormal oral morphology	4762	NEUROG1	OMIM:620469
HP:0031816	Abnormal oral morphology	8924	HERC2	OMIM:615516
HP:0031816	Abnormal oral morphology	79005	SCNM1	OMIM:620107
HP:0031816	Abnormal oral morphology	5728	PTEN	ORPHA:109
HP:0031816	Abnormal oral morphology	2202	EFEMP1	OMIM:620780
HP:0031816	Abnormal oral morphology	91754	NEK9	OMIM:617022
HP:0031816	Abnormal oral morphology	63916	ELMO2	ORPHA:3019
HP:0031816	Abnormal oral morphology	57038	RARS2	OMIM:611523
HP:0031816	Abnormal oral morphology	6660	SOX5	ORPHA:313892
HP:0031816	Abnormal oral morphology	1376	CPT2	OMIM:608836
HP:0031816	Abnormal oral morphology	6497	SKI	OMIM:182212
HP:0031816	Abnormal oral morphology	6709	SPTAN1	OMIM:620528
HP:0031816	Abnormal oral morphology	23184	MESD	OMIM:618644
HP:0031816	Abnormal oral morphology	91137	SLC25A46	OMIM:616505
HP:0031816	Abnormal oral morphology	8604	SLC25A12	OMIM:612949
HP:0031816	Abnormal oral morphology	58497	PRUNE1	OMIM:617481
HP:0031816	Abnormal oral morphology	1954	MEGF8	OMIM:614976
HP:0031816	Abnormal oral morphology	90952	ESAM	OMIM:620371
HP:0031816	Abnormal oral morphology	83479	DDX59	ORPHA:2919
HP:0031816	Abnormal oral morphology	374654	KIF7	OMIM:200990
HP:0031816	Abnormal oral morphology	374654	KIF7	ORPHA:2754
HP:0031816	Abnormal oral morphology	54101	RIPK4	ORPHA:1401
HP:0031816	Abnormal oral morphology	4929	NR4A2	ORPHA:1617
HP:0031816	Abnormal oral morphology	10716	TBR1	ORPHA:1617
HP:0031816	Abnormal oral morphology	4750	NEK1	ORPHA:2751
HP:0031816	Abnormal oral morphology	26123	TCTN3	ORPHA:2753
HP:0031816	Abnormal oral morphology	26123	TCTN3	ORPHA:2754
HP:0031816	Abnormal oral morphology	79583	TMEM231	ORPHA:2754
HP:0031816	Abnormal oral morphology	10210	TOPORS	ORPHA:2754
HP:0031816	Abnormal oral morphology	9851	KIAA0753	ORPHA:2754
HP:0031816	Abnormal oral morphology	5147	PDE6D	ORPHA:2754
HP:0031816	Abnormal oral morphology	65250	CPLANE1	ORPHA:2754
HP:0031816	Abnormal oral morphology	51259	TMEM216	ORPHA:2754
HP:0031816	Abnormal oral morphology	317662	FAM149B1	ORPHA:2754
HP:0031816	Abnormal oral morphology	55209	SETD5	ORPHA:404440
HP:0031816	Abnormal oral morphology	1147	CHUK	OMIM:619339
HP:0031816	Abnormal oral morphology	1108	CHD4	OMIM:617159
HP:0031816	Abnormal oral morphology	5144	PDE4D	ORPHA:950
HP:0031816	Abnormal oral morphology	23141	ANKLE2	OMIM:616681
HP:0031816	Abnormal oral morphology	2653	GCSH	OMIM:620423
HP:0031816	Abnormal oral morphology	10479	SLC9A6	OMIM:300243
HP:0031816	Abnormal oral morphology	10479	SLC9A6	ORPHA:85278
HP:0031816	Abnormal oral morphology	6535	SLC6A8	ORPHA:52503
HP:0031816	Abnormal oral morphology	3908	LAMA2	ORPHA:258
HP:0031816	Abnormal oral morphology	84340	GFM2	ORPHA:565624
HP:0031816	Abnormal oral morphology	23258	DENND5A	OMIM:617281
HP:0031816	Abnormal oral morphology	79576	NKAP	OMIM:301039
HP:0031816	Abnormal oral morphology	5518	PPP2R1A	OMIM:616362
HP:0031816	Abnormal oral morphology	5518	PPP2R1A	ORPHA:457284
HP:0031816	Abnormal oral morphology	55768	NGLY1	OMIM:615273
HP:0031816	Abnormal oral morphology	57680	CHD8	OMIM:615032
HP:0031816	Abnormal oral morphology	10382	TUBB4A	ORPHA:98805
HP:0031816	Abnormal oral morphology	285175	UNC80	OMIM:616801
HP:0031816	Abnormal oral morphology	6942	TCF20	OMIM:618430
HP:0031816	Abnormal oral morphology	55704	CCDC88A	OMIM:617507
HP:0031816	Abnormal oral morphology	25973	PARS2	OMIM:618437
HP:0031816	Abnormal oral morphology	51244	CCDC174	OMIM:616816
HP:0031816	Abnormal oral morphology	51085	MLXIPL	OMIM:194050
HP:0031816	Abnormal oral morphology	4208	MEF2C	ORPHA:228384
HP:0031816	Abnormal oral morphology	5879	RAC1	OMIM:617751
HP:0031816	Abnormal oral morphology	5879	RAC1	ORPHA:500159
HP:0031816	Abnormal oral morphology	11141	IL1RAPL1	OMIM:300143
HP:0031816	Abnormal oral morphology	27161	AGO2	OMIM:619149
HP:0031816	Abnormal oral morphology	1460	CSNK2B	OMIM:618732
HP:0031816	Abnormal oral morphology	158326	FREM1	ORPHA:217266
HP:0031816	Abnormal oral morphology	158326	FREM1	OMIM:608980
HP:0031816	Abnormal oral morphology	699	BUB1	OMIM:620183
HP:0031816	Abnormal oral morphology	50801	KCNK4	OMIM:618381
HP:0031816	Abnormal oral morphology	6628	SNRPB	OMIM:117650
HP:0031816	Abnormal oral morphology	6885	MAP3K7	OMIM:617137
HP:0031816	Abnormal oral morphology	23314	SATB2	ORPHA:251028
HP:0031816	Abnormal oral morphology	23314	SATB2	OMIM:612313
HP:0031816	Abnormal oral morphology	347734	SLC35B2	OMIM:620269
HP:0031816	Abnormal oral morphology	4076	CAPRIN1	OMIM:620782
HP:0031816	Abnormal oral morphology	1280	COL2A1	OMIM:108300
HP:0031816	Abnormal oral morphology	1280	COL2A1	ORPHA:93296
HP:0031816	Abnormal oral morphology	1280	COL2A1	ORPHA:485
HP:0031816	Abnormal oral morphology	1280	COL2A1	OMIM:183900
HP:0031816	Abnormal oral morphology	1302	COL11A2	OMIM:215150
HP:0031816	Abnormal oral morphology	1302	COL11A2	OMIM:184840
HP:0031816	Abnormal oral morphology	2887	GRB10	ORPHA:96182
HP:0031816	Abnormal oral morphology	1301	COL11A1	OMIM:604841
HP:0031816	Abnormal oral morphology	1301	COL11A1	OMIM:154780
HP:0031816	Abnormal oral morphology	54487	DGCR8	OMIM:192430
HP:0031816	Abnormal oral morphology	6899	TBX1	OMIM:192430
HP:0031816	Abnormal oral morphology	8214	DGCR6	OMIM:192430
HP:0031816	Abnormal oral morphology	8220	ESS2	OMIM:192430
HP:0031816	Abnormal oral morphology	9993	DGCR2	OMIM:192430
HP:0031816	Abnormal oral morphology	9382	COG1	OMIM:611209
HP:0031816	Abnormal oral morphology	9382	COG1	ORPHA:263508
HP:0031816	Abnormal oral morphology	8241	RBM10	ORPHA:2886
HP:0031816	Abnormal oral morphology	389827	MYMK	ORPHA:1358
HP:0031816	Abnormal oral morphology	389827	MYMK	OMIM:254940
HP:0031816	Abnormal oral morphology	101929726	MYMX	ORPHA:1358
HP:0031816	Abnormal oral morphology	139285	AMER1	OMIM:300373
HP:0031816	Abnormal oral morphology	23483	TGDS	OMIM:616145
HP:0031816	Abnormal oral morphology	1298	COL9A2	OMIM:614284
HP:0031816	Abnormal oral morphology	84068	SLC10A7	OMIM:618363
HP:0031816	Abnormal oral morphology	650	BMP2	OMIM:617877
HP:0031816	Abnormal oral morphology	7528	YY1	OMIM:617557
HP:0031816	Abnormal oral morphology	5236	PGM1	OMIM:614921
HP:0031816	Abnormal oral morphology	222663	SCUBE3	OMIM:619184
HP:0031816	Abnormal oral morphology	9775	EIF4A3	OMIM:268305
HP:0031816	Abnormal oral morphology	5277	PIGA	OMIM:300868
HP:0031816	Abnormal oral morphology	23327	NEDD4L	OMIM:617201
HP:0031816	Abnormal oral morphology	7543	ZFX	OMIM:301118
HP:0031816	Abnormal oral morphology	56992	KIF15	OMIM:619981
HP:0031816	Abnormal oral morphology	26057	ANKRD17	OMIM:619504
HP:0031816	Abnormal oral morphology	2316	FLNA	ORPHA:90652
HP:0031816	Abnormal oral morphology	60	ACTB	OMIM:243310
HP:0031816	Abnormal oral morphology	60	ACTB	ORPHA:79107
HP:0031816	Abnormal oral morphology	79600	TCTN1	ORPHA:475
HP:0031816	Abnormal oral morphology	79848	CSPP1	ORPHA:475
HP:0031816	Abnormal oral morphology	51684	SUFU	ORPHA:475
HP:0031816	Abnormal oral morphology	51684	SUFU	ORPHA:280200
HP:0031816	Abnormal oral morphology	51684	SUFU	ORPHA:377
HP:0031816	Abnormal oral morphology	54806	AHI1	ORPHA:475
HP:0031816	Abnormal oral morphology	54806	AHI1	ORPHA:220493
HP:0031816	Abnormal oral morphology	153241	CEP120	ORPHA:475
HP:0031816	Abnormal oral morphology	153241	CEP120	ORPHA:220493
HP:0031816	Abnormal oral morphology	91147	TMEM67	ORPHA:475
HP:0031816	Abnormal oral morphology	91147	TMEM67	ORPHA:1454
HP:0031816	Abnormal oral morphology	200894	ARL13B	ORPHA:475
HP:0031816	Abnormal oral morphology	9731	CEP104	ORPHA:475
HP:0031816	Abnormal oral morphology	219844	HYLS1	ORPHA:475
HP:0031816	Abnormal oral morphology	23247	KATNIP	ORPHA:475
HP:0031816	Abnormal oral morphology	219854	TMEM218	ORPHA:475
HP:0031816	Abnormal oral morphology	95681	CEP41	ORPHA:475
HP:0031816	Abnormal oral morphology	95681	CEP41	ORPHA:220493
HP:0031816	Abnormal oral morphology	9786	KIAA0586	ORPHA:475
HP:0031816	Abnormal oral morphology	56623	INPP5E	ORPHA:475
HP:0031816	Abnormal oral morphology	56623	INPP5E	ORPHA:220493
HP:0031816	Abnormal oral morphology	56623	INPP5E	ORPHA:1454
HP:0031816	Abnormal oral morphology	79867	TCTN2	ORPHA:475
HP:0031816	Abnormal oral morphology	80776	B9D2	ORPHA:475
HP:0031816	Abnormal oral morphology	10464	PIBF1	ORPHA:475
HP:0031816	Abnormal oral morphology	80210	ARMC9	ORPHA:475
HP:0031816	Abnormal oral morphology	23116	TOGARAM1	ORPHA:475
HP:0031816	Abnormal oral morphology	25776	CBY1	ORPHA:475
HP:0031816	Abnormal oral morphology	27077	B9D1	ORPHA:475
HP:0031816	Abnormal oral morphology	403	ARL3	ORPHA:475
HP:0031816	Abnormal oral morphology	65062	TMEM237	ORPHA:475
HP:0031816	Abnormal oral morphology	65062	TMEM237	ORPHA:220497
HP:0031816	Abnormal oral morphology	341640	FREM2	ORPHA:2052
HP:0031816	Abnormal oral morphology	80144	FRAS1	ORPHA:2052
HP:0031816	Abnormal oral morphology	23426	GRIP1	ORPHA:2052
HP:0031816	Abnormal oral morphology	71	ACTG1	OMIM:614583
HP:0031816	Abnormal oral morphology	10274	STAG1	ORPHA:502434
HP:0031816	Abnormal oral morphology	7473	WNT3	ORPHA:3301
HP:0031816	Abnormal oral morphology	340419	RSPO2	ORPHA:3301
HP:0031816	Abnormal oral morphology	9496	TBX4	ORPHA:3301
HP:0031816	Abnormal oral morphology	6469	SHH	OMIM:611638
HP:0031816	Abnormal oral morphology	6469	SHH	ORPHA:280200
HP:0031816	Abnormal oral morphology	81839	VANGL1	ORPHA:3027
HP:0031816	Abnormal oral morphology	80199	FUZ	ORPHA:3027
HP:0031816	Abnormal oral morphology	8517	IKBKG	ORPHA:464
HP:0031816	Abnormal oral morphology	10436	EMG1	ORPHA:1270
HP:0031816	Abnormal oral morphology	57589	RIC1	ORPHA:199306
HP:0031816	Abnormal oral morphology	1739	DLG1	ORPHA:199306
HP:0031816	Abnormal oral morphology	999	CDH1	ORPHA:199306
HP:0031816	Abnormal oral morphology	5156	PDGFRA	ORPHA:199306
HP:0031816	Abnormal oral morphology	3664	IRF6	ORPHA:199306
HP:0031816	Abnormal oral morphology	3664	IRF6	ORPHA:99798
HP:0031816	Abnormal oral morphology	1748	DLX4	ORPHA:199306
HP:0031816	Abnormal oral morphology	652	BMP4	ORPHA:199306
HP:0031816	Abnormal oral morphology	22837	COBLL1	ORPHA:199306
HP:0031816	Abnormal oral morphology	54848	ARHGEF38	ORPHA:199306
HP:0031816	Abnormal oral morphology	9411	ARHGAP29	ORPHA:199306
HP:0031816	Abnormal oral morphology	23322	RPGRIP1L	ORPHA:220497
HP:0031816	Abnormal oral morphology	23322	RPGRIP1L	ORPHA:1454
HP:0031816	Abnormal oral morphology	23384	SPECC1L	ORPHA:1519
HP:0031816	Abnormal oral morphology	2767	GNA11	ORPHA:1556
HP:0031816	Abnormal oral morphology	151188	ARL6IP6	ORPHA:1556
HP:0031816	Abnormal oral morphology	28514	DLL1	ORPHA:280200
HP:0031816	Abnormal oral morphology	6496	SIX3	ORPHA:280200
HP:0031816	Abnormal oral morphology	7050	TGIF1	ORPHA:280200
HP:0031816	Abnormal oral morphology	4838	NODAL	ORPHA:280200
HP:0031816	Abnormal oral morphology	7546	ZIC2	ORPHA:280200
HP:0031816	Abnormal oral morphology	7546	ZIC2	OMIM:609637
HP:0031816	Abnormal oral morphology	2619	GAS1	ORPHA:280200
HP:0031816	Abnormal oral morphology	84976	DISP1	ORPHA:280200
HP:0031816	Abnormal oral morphology	2736	GLI2	ORPHA:280200
HP:0031816	Abnormal oral morphology	8928	FOXH1	ORPHA:280200
HP:0031816	Abnormal oral morphology	6997	CRIPTO	ORPHA:280200
HP:0031816	Abnormal oral morphology	5727	PTCH1	ORPHA:280200
HP:0031816	Abnormal oral morphology	5727	PTCH1	ORPHA:377
HP:0031816	Abnormal oral morphology	5727	PTCH1	ORPHA:77301
HP:0031816	Abnormal oral morphology	50937	CDON	ORPHA:280200
HP:0031816	Abnormal oral morphology	8643	PTCH2	ORPHA:377
HP:0031816	Abnormal oral morphology	4072	EPCAM	ORPHA:92050
HP:0031816	Abnormal oral morphology	105371045	PERCC1	ORPHA:92050
HP:0031816	Abnormal oral morphology	5077	PAX3	OMIM:193500
HP:0031816	Abnormal oral morphology	23511	NUP188	OMIM:618804
HP:0031816	Abnormal oral morphology	23133	PHF8	ORPHA:85287
HP:0031816	Abnormal oral morphology	10584	COLEC10	ORPHA:293843
HP:0031816	Abnormal oral morphology	5648	MASP1	ORPHA:293843
HP:0031816	Abnormal oral morphology	78989	COLEC11	ORPHA:293843
HP:0031816	Abnormal oral morphology	1146	CHRNG	ORPHA:2990
HP:0031816	Abnormal oral morphology	157570	ESCO2	ORPHA:2319
HP:0031816	Abnormal oral morphology	84295	PHF6	ORPHA:127
HP:0031816	Abnormal oral morphology	5083	PAX9	ORPHA:99798
HP:0031816	Abnormal oral morphology	7341	SUMO1	ORPHA:99798
HP:0031816	Abnormal oral morphology	80326	WNT10A	ORPHA:99798
HP:0031816	Abnormal oral morphology	1896	EDA	ORPHA:99798
HP:0031816	Abnormal oral morphology	8313	AXIN2	ORPHA:99798
HP:0031816	Abnormal oral morphology	4040	LRP6	ORPHA:99798
HP:0031816	Abnormal oral morphology	7039	TGFA	ORPHA:99798
HP:0031816	Abnormal oral morphology	7480	WNT10B	ORPHA:99798
HP:0031816	Abnormal oral morphology	7474	WNT5A	OMIM:180700
HP:0031816	Abnormal oral morphology	9897	WASHC5	ORPHA:7
HP:0031816	Abnormal oral morphology	28952	CCDC22	ORPHA:7
HP:0031816	Abnormal oral morphology	57020	VPS35L	ORPHA:7
HP:0031816	Abnormal oral morphology	56896	DPYSL5	ORPHA:7
HP:0031816	Abnormal oral morphology	8802	SUCLG1	ORPHA:17
HP:0031816	Abnormal oral morphology	7046	TGFBR1	ORPHA:60030
HP:0031816	Abnormal oral morphology	10526	IPO8	ORPHA:60030
HP:0031816	Abnormal oral morphology	7048	TGFBR2	ORPHA:60030
HP:0031816	Abnormal oral morphology	7042	TGFB2	ORPHA:60030
HP:0031816	Abnormal oral morphology	7043	TGFB3	ORPHA:60030
HP:0031816	Abnormal oral morphology	4087	SMAD2	ORPHA:60030
HP:0031816	Abnormal oral morphology	4088	SMAD3	ORPHA:60030
HP:0031816	Abnormal oral morphology	57545	CC2D2A	ORPHA:1454
HP:0031816	Abnormal oral morphology	54361	WNT4	ORPHA:139466
HP:0031816	Abnormal oral morphology	53834	FGFRL1	OMIM:194190
HP:0031816	Abnormal oral morphology	55315	SLC29A3	ORPHA:168569
HP:0031816	Abnormal oral morphology	3106	HLA-B	ORPHA:397
HP:0031816	Abnormal oral morphology	8974	P4HA2	ORPHA:397
HP:0031816	Abnormal oral morphology	8029	CUBN	ORPHA:35858
HP:0031816	Abnormal oral morphology	81693	AMN	ORPHA:35858
HP:0031816	Abnormal oral morphology	340024	SLC6A19	ORPHA:2116
HP:0031816	Abnormal oral morphology	340024	SLC6A19	OMIM:234500
HP:0031816	Abnormal oral morphology	57393	CLTRN	ORPHA:2116
HP:0031816	Abnormal oral morphology	54892	NCAPG2	OMIM:618460
HP:0031816	Abnormal oral morphology	54676	GTPBP2	OMIM:617988
HP:0031816	Abnormal oral morphology	23102	TBC1D2B	OMIM:619323
HP:0031816	Abnormal oral morphology	4323	MMP14	OMIM:277950
HP:0031816	Abnormal oral morphology	28962	OSTM1	OMIM:259720
HP:0031816	Abnormal oral morphology	94	ACVRL1	OMIM:600376
HP:0031816	Abnormal oral morphology	94	ACVRL1	ORPHA:774
HP:0031816	Abnormal oral morphology	2658	GDF2	ORPHA:774
HP:0031816	Abnormal oral morphology	2022	ENG	ORPHA:774
HP:0031816	Abnormal oral morphology	2022	ENG	OMIM:187300
HP:0031816	Abnormal oral morphology	4668	NAGA	ORPHA:79280
HP:0031816	Abnormal oral morphology	4668	NAGA	OMIM:609242
HP:0031816	Abnormal oral morphology	51126	NAA20	OMIM:619717
HP:0031816	Abnormal oral morphology	22858	CILK1	OMIM:612651
HP:0031816	Abnormal oral morphology	875	CBS	ORPHA:394
HP:0031816	Abnormal oral morphology	875	CBS	OMIM:236200
HP:0031816	Abnormal oral morphology	1145	CHRNE	OMIM:608931
HP:0031816	Abnormal oral morphology	1145	CHRNE	ORPHA:98913
HP:0031816	Abnormal oral morphology	2673	GFPT1	OMIM:608931
HP:0031816	Abnormal oral morphology	2673	GFPT1	ORPHA:353327
HP:0031816	Abnormal oral morphology	23019	CNOT1	OMIM:618500
HP:0031816	Abnormal oral morphology	23019	CNOT1	ORPHA:556955
HP:0031816	Abnormal oral morphology	5238	PGM3	ORPHA:443811
HP:0031816	Abnormal oral morphology	5238	PGM3	OMIM:615816
HP:0031816	Abnormal oral morphology	4897	NRCAM	OMIM:619833
HP:0031816	Abnormal oral morphology	80816	ASXL3	OMIM:615485
HP:0031816	Abnormal oral morphology	283489	CHAMP1	OMIM:616579
HP:0031816	Abnormal oral morphology	5184	PEPD	OMIM:170100
HP:0031816	Abnormal oral morphology	4625	MYH7	OMIM:160500
HP:0031816	Abnormal oral morphology	4625	MYH7	ORPHA:324604
HP:0031816	Abnormal oral morphology	4625	MYH7	OMIM:255160
HP:0031816	Abnormal oral morphology	4625	MYH7	ORPHA:59135
HP:0031816	Abnormal oral morphology	55154	MSTO1	OMIM:617675
HP:0031816	Abnormal oral morphology	55154	MSTO1	ORPHA:502423
HP:0031816	Abnormal oral morphology	79029	AFG2B	OMIM:619616
HP:0031816	Abnormal oral morphology	4604	MYBPC1	OMIM:618524
HP:0031816	Abnormal oral morphology	79140	CCDC28B	OMIM:209900
HP:0031816	Abnormal oral morphology	4620	MYH2	OMIM:605637
HP:0031816	Abnormal oral morphology	4330	MN1	OMIM:618774
HP:0031816	Abnormal oral morphology	6602	SMARCD1	OMIM:618779
HP:0031816	Abnormal oral morphology	4534	MTM1	ORPHA:596
HP:0031816	Abnormal oral morphology	4534	MTM1	OMIM:310400
HP:0031816	Abnormal oral morphology	4534	MTM1	ORPHA:456328
HP:0031816	Abnormal oral morphology	8558	CDK10	OMIM:617694
HP:0031816	Abnormal oral morphology	23259	DDHD2	OMIM:615033
HP:0031816	Abnormal oral morphology	23259	DDHD2	ORPHA:320380
HP:0031816	Abnormal oral morphology	51633	OTUD6B	OMIM:617452
HP:0031816	Abnormal oral morphology	51633	OTUD6B	ORPHA:505237
HP:0031816	Abnormal oral morphology	92609	TIMM50	OMIM:617698
HP:0031816	Abnormal oral morphology	51692	CPSF3	OMIM:619876
HP:0031816	Abnormal oral morphology	58	ACTA1	OMIM:161800
HP:0031816	Abnormal oral morphology	58	ACTA1	ORPHA:171436
HP:0031816	Abnormal oral morphology	58	ACTA1	OMIM:620278
HP:0031816	Abnormal oral morphology	58	ACTA1	ORPHA:2020
HP:0031816	Abnormal oral morphology	58	ACTA1	ORPHA:171439
HP:0031816	Abnormal oral morphology	8818	DPM2	OMIM:615042
HP:0031816	Abnormal oral morphology	8818	DPM2	ORPHA:329178
HP:0031816	Abnormal oral morphology	6329	SCN4A	OMIM:614198
HP:0031816	Abnormal oral morphology	6329	SCN4A	ORPHA:98913
HP:0031816	Abnormal oral morphology	6329	SCN4A	OMIM:620351
HP:0031816	Abnormal oral morphology	6329	SCN4A	OMIM:620369
HP:0031816	Abnormal oral morphology	56652	TWNK	OMIM:616138
HP:0031816	Abnormal oral morphology	163175	LGI4	OMIM:617468
HP:0031816	Abnormal oral morphology	200424	TET3	OMIM:618798
HP:0031816	Abnormal oral morphology	79971	WLS	OMIM:619648
HP:0031816	Abnormal oral morphology	8565	YARS1	OMIM:619418
HP:0031816	Abnormal oral morphology	10533	ATG7	OMIM:619422
HP:0031816	Abnormal oral morphology	1917	EEF1A2	OMIM:616393
HP:0031816	Abnormal oral morphology	9742	IFT140	OMIM:266920
HP:0031816	Abnormal oral morphology	5081	PAX7	OMIM:618578
HP:0031816	Abnormal oral morphology	5908	RAP1B	OMIM:620654
HP:0031816	Abnormal oral morphology	2201	FBN2	ORPHA:115
HP:0031816	Abnormal oral morphology	2201	FBN2	OMIM:121050
HP:0031816	Abnormal oral morphology	11160	ERLIN2	ORPHA:280384
HP:0031816	Abnormal oral morphology	11160	ERLIN2	OMIM:611225
HP:0031816	Abnormal oral morphology	11160	ERLIN2	ORPHA:209951
HP:0031816	Abnormal oral morphology	4921	DDR2	OMIM:271665
HP:0031816	Abnormal oral morphology	4921	DDR2	OMIM:618175
HP:0031816	Abnormal oral morphology	57190	SELENON	ORPHA:324604
HP:0031816	Abnormal oral morphology	57190	SELENON	OMIM:602771
HP:0031816	Abnormal oral morphology	57190	SELENON	ORPHA:2020
HP:0031816	Abnormal oral morphology	7273	TTN	ORPHA:324604
HP:0031816	Abnormal oral morphology	7273	TTN	ORPHA:169186
HP:0031816	Abnormal oral morphology	9488	PIGB	OMIM:618580
HP:0031816	Abnormal oral morphology	8925	HERC1	OMIM:617011
HP:0031816	Abnormal oral morphology	8925	HERC1	ORPHA:457359
HP:0031816	Abnormal oral morphology	1499	CTNNB1	OMIM:615075
HP:0031816	Abnormal oral morphology	8076	MFAP5	OMIM:616166
HP:0031816	Abnormal oral morphology	79912	PYROXD1	OMIM:617258
HP:0031816	Abnormal oral morphology	90459	ERI1	OMIM:620663
HP:0031816	Abnormal oral morphology	90459	ERI1	OMIM:620662
HP:0031816	Abnormal oral morphology	50814	NSDHL	ORPHA:251383
HP:0031816	Abnormal oral morphology	50814	NSDHL	OMIM:300831
HP:0031816	Abnormal oral morphology	128869	PIGU	OMIM:618590
HP:0031816	Abnormal oral morphology	27125	AFF4	ORPHA:444077
HP:0031816	Abnormal oral morphology	5515	PPP2CA	OMIM:618354
HP:0031816	Abnormal oral morphology	3039	HBA1	ORPHA:98791
HP:0031816	Abnormal oral morphology	3040	HBA2	ORPHA:98791
HP:0031816	Abnormal oral morphology	51434	ANAPC7	OMIM:619699
HP:0031816	Abnormal oral morphology	1621	DBH	OMIM:223360
HP:0031816	Abnormal oral morphology	4052	LTBP1	OMIM:619451
HP:0031816	Abnormal oral morphology	201163	FLCN	OMIM:610883
HP:0031816	Abnormal oral morphology	7136	TNNI2	OMIM:601680
HP:0031816	Abnormal oral morphology	7136	TNNI2	ORPHA:1147
HP:0031816	Abnormal oral morphology	4556	MT-TE	ORPHA:254864
HP:0031816	Abnormal oral morphology	55687	TRMU	ORPHA:254864
HP:0031816	Abnormal oral morphology	633	BGN	OMIM:300989
HP:0031816	Abnormal oral morphology	9758	FRMPD4	OMIM:300983
HP:0031816	Abnormal oral morphology	55975	KLHL7	OMIM:617055
HP:0031816	Abnormal oral morphology	57061	HYMAI	ORPHA:96191
HP:0031816	Abnormal oral morphology	5325	PLAGL1	ORPHA:96191
HP:0031816	Abnormal oral morphology	348180	CTU2	OMIM:618142
HP:0031816	Abnormal oral morphology	80036	TRPM3	OMIM:620224
HP:0031816	Abnormal oral morphology	3248	HPGD	OMIM:259100
HP:0031816	Abnormal oral morphology	1457	CSNK2A1	OMIM:617062
HP:0031816	Abnormal oral morphology	9325	TRIP4	OMIM:617066
HP:0031816	Abnormal oral morphology	9325	TRIP4	ORPHA:486815
HP:0031816	Abnormal oral morphology	9325	TRIP4	OMIM:616866
HP:0031816	Abnormal oral morphology	91875	TTC5	OMIM:619244
HP:0031816	Abnormal oral morphology	9373	PLAA	ORPHA:521426
HP:0031816	Abnormal oral morphology	9373	PLAA	OMIM:617527
HP:0031816	Abnormal oral morphology	8450	CUL4B	ORPHA:85293
HP:0031816	Abnormal oral morphology	23387	SIK3	OMIM:618162
HP:0031816	Abnormal oral morphology	8242	KDM5C	ORPHA:85279
HP:0031816	Abnormal oral morphology	8242	KDM5C	OMIM:300534
HP:0031816	Abnormal oral morphology	1073	CFL2	OMIM:610687
HP:0031816	Abnormal oral morphology	1073	CFL2	ORPHA:171436
HP:0031816	Abnormal oral morphology	779	CACNA1S	OMIM:620246
HP:0031816	Abnormal oral morphology	84081	NSRP1	OMIM:620001
HP:0031816	Abnormal oral morphology	10079	ATP9A	OMIM:620242
HP:0031816	Abnormal oral morphology	114034	TOE1	ORPHA:284339
HP:0031816	Abnormal oral morphology	114034	TOE1	OMIM:614969
HP:0031816	Abnormal oral morphology	9562	MINPP1	ORPHA:284339
HP:0031816	Abnormal oral morphology	84842	HPDL	OMIM:619026
HP:0031816	Abnormal oral morphology	27445	PCLO	OMIM:608027
HP:0031816	Abnormal oral morphology	9898	UBAP2L	OMIM:620494
HP:0031816	Abnormal oral morphology	65055	REEP1	OMIM:620011
HP:0031816	Abnormal oral morphology	6309	SC5D	ORPHA:46059
HP:0031816	Abnormal oral morphology	5393	EXOSC9	OMIM:618065
HP:0031816	Abnormal oral morphology	50484	RRM2B	ORPHA:329336
HP:0031816	Abnormal oral morphology	246243	RNASEH1	ORPHA:329336
HP:0031816	Abnormal oral morphology	161742	SPRED1	OMIM:611431
HP:0031816	Abnormal oral morphology	5784	PTPN14	OMIM:613611
HP:0031816	Abnormal oral morphology	781	CACNA2D1	OMIM:620149
HP:0031816	Abnormal oral morphology	7138	TNNT1	OMIM:620389
HP:0031816	Abnormal oral morphology	1278	COL1A2	ORPHA:230851
HP:0031816	Abnormal oral morphology	10978	CLP1	OMIM:615803
HP:0031816	Abnormal oral morphology	26153	KIF26A	OMIM:620156
HP:0031816	Abnormal oral morphology	84992	PIGY	ORPHA:247262
HP:0031816	Abnormal oral morphology	84992	PIGY	OMIM:616809
HP:0031816	Abnormal oral morphology	284098	PIGW	ORPHA:247262
HP:0031816	Abnormal oral morphology	284098	PIGW	OMIM:616025
HP:0031816	Abnormal oral morphology	1272	CNTN1	OMIM:612540
HP:0031816	Abnormal oral morphology	6261	RYR1	OMIM:255320
HP:0031816	Abnormal oral morphology	6261	RYR1	ORPHA:98905
HP:0031816	Abnormal oral morphology	6261	RYR1	OMIM:619542
HP:0031816	Abnormal oral morphology	6261	RYR1	ORPHA:169186
HP:0031816	Abnormal oral morphology	29967	LRP12	OMIM:164310
HP:0031816	Abnormal oral morphology	29967	LRP12	ORPHA:98897
HP:0031816	Abnormal oral morphology	23036	ZNF292	OMIM:619188
HP:0031816	Abnormal oral morphology	7170	TPM3	OMIM:255310
HP:0031816	Abnormal oral morphology	7170	TPM3	OMIM:609284
HP:0031816	Abnormal oral morphology	7170	TPM3	ORPHA:171881
HP:0031816	Abnormal oral morphology	7170	TPM3	ORPHA:2020
HP:0031816	Abnormal oral morphology	7170	TPM3	ORPHA:171439
HP:0031816	Abnormal oral morphology	23545	ATP6V0A2	OMIM:278250
HP:0031816	Abnormal oral morphology	23545	ATP6V0A2	OMIM:219200
HP:0031816	Abnormal oral morphology	23545	ATP6V0A2	ORPHA:2834
HP:0031816	Abnormal oral morphology	23545	ATP6V0A2	ORPHA:357074
HP:0031816	Abnormal oral morphology	5063	PAK3	OMIM:300558
HP:0031816	Abnormal oral morphology	79753	SNIP1	OMIM:614501
HP:0031816	Abnormal oral morphology	3211	HOXB1	OMIM:614744
HP:0031816	Abnormal oral morphology	10056	FARSB	OMIM:613658
HP:0031816	Abnormal oral morphology	55719	SLF2	OMIM:620184
HP:0031816	Abnormal oral morphology	23137	SMC5	OMIM:620185
HP:0031816	Abnormal oral morphology	79759	ZNF668	OMIM:620194
HP:0031816	Abnormal oral morphology	283209	PGM2L1	OMIM:620191
HP:0031816	Abnormal oral morphology	57459	GATAD2B	ORPHA:363686
HP:0031816	Abnormal oral morphology	8050	PDHX	OMIM:245349
HP:0031816	Abnormal oral morphology	368	ABCC6	OMIM:177850
HP:0031816	Abnormal oral morphology	6473	SHOX	OMIM:249700
HP:0031816	Abnormal oral morphology	6473	SHOX	OMIM:127300
HP:0031816	Abnormal oral morphology	6473	SHOX	ORPHA:314795
HP:0031816	Abnormal oral morphology	6473	SHOX	ORPHA:2632
HP:0031816	Abnormal oral morphology	3708	ITPR1	OMIM:117360
HP:0031816	Abnormal oral morphology	80324	PUS1	ORPHA:2598
HP:0031816	Abnormal oral morphology	80324	PUS1	OMIM:600462
HP:0031816	Abnormal oral morphology	51067	YARS2	ORPHA:2598
HP:0031816	Abnormal oral morphology	91252	SLC39A13	OMIM:612350
HP:0031816	Abnormal oral morphology	22907	DHX30	OMIM:617804
HP:0031816	Abnormal oral morphology	10075	HUWE1	OMIM:309590
HP:0031816	Abnormal oral morphology	1305	COL13A1	OMIM:616720
HP:0031816	Abnormal oral morphology	1305	COL13A1	ORPHA:98914
HP:0031816	Abnormal oral morphology	1305	COL13A1	ORPHA:98913
HP:0031816	Abnormal oral morphology	11133	KPTN	OMIM:615637
HP:0031816	Abnormal oral morphology	11133	KPTN	ORPHA:397612
HP:0031816	Abnormal oral morphology	4747	NEFL	OMIM:607684
HP:0031816	Abnormal oral morphology	84162	BLTP1	OMIM:617822
HP:0031816	Abnormal oral morphology	3097	HIVEP2	OMIM:616977
HP:0031816	Abnormal oral morphology	23097	CDK19	OMIM:618916
HP:0031816	Abnormal oral morphology	4131	MAP1B	OMIM:618918
HP:0031816	Abnormal oral morphology	5075	PAX1	ORPHA:2792
HP:0031816	Abnormal oral morphology	1000	CDH2	OMIM:618929
HP:0031816	Abnormal oral morphology	9997	SCO2	OMIM:604377
HP:0031816	Abnormal oral morphology	1213	CLTC	OMIM:617854
HP:0031816	Abnormal oral morphology	4329	ALDH6A1	OMIM:614105
HP:0031816	Abnormal oral morphology	55617	TASP1	OMIM:618950
HP:0031816	Abnormal oral morphology	6182	MRPL12	OMIM:618951
HP:0031816	Abnormal oral morphology	1806	DPYD	ORPHA:1675
HP:0031816	Abnormal oral morphology	60482	SLC5A7	ORPHA:98914
HP:0031816	Abnormal oral morphology	4649	MYO9A	ORPHA:98914
HP:0031816	Abnormal oral morphology	1103	CHAT	ORPHA:98914
HP:0031816	Abnormal oral morphology	6576	SLC25A1	ORPHA:98914
HP:0031816	Abnormal oral morphology	6843	VAMP1	ORPHA:98914
HP:0031816	Abnormal oral morphology	375790	AGRN	ORPHA:98914
HP:0031816	Abnormal oral morphology	375790	AGRN	ORPHA:98913
HP:0031816	Abnormal oral morphology	375790	AGRN	OMIM:615120
HP:0031816	Abnormal oral morphology	127833	SYT2	ORPHA:98914
HP:0031816	Abnormal oral morphology	6616	SNAP25	ORPHA:98914
HP:0031816	Abnormal oral morphology	8292	COLQ	ORPHA:98915
HP:0031816	Abnormal oral morphology	3913	LAMB2	ORPHA:98915
HP:0031816	Abnormal oral morphology	4038	LRP4	ORPHA:98913
HP:0031816	Abnormal oral morphology	1140	CHRNB1	ORPHA:98913
HP:0031816	Abnormal oral morphology	1140	CHRNB1	OMIM:616313
HP:0031816	Abnormal oral morphology	221264	AK9	ORPHA:98913
HP:0031816	Abnormal oral morphology	259266	ASPM	OMIM:608716
HP:0031816	Abnormal oral morphology	10020	GNE	OMIM:269921
HP:0031816	Abnormal oral morphology	26503	SLC17A5	OMIM:269920
HP:0031816	Abnormal oral morphology	84700	MYO18B	OMIM:616549
HP:0031816	Abnormal oral morphology	128637	TBC1D20	ORPHA:2510
HP:0031816	Abnormal oral morphology	6910	TBX5	OMIM:142900
HP:0031816	Abnormal oral morphology	55553	SOX6	OMIM:618971
HP:0031816	Abnormal oral morphology	79875	THSD4	OMIM:619825
HP:0031816	Abnormal oral morphology	529	ATP6V1E1	OMIM:617402
HP:0031816	Abnormal oral morphology	529	ATP6V1E1	ORPHA:357074
HP:0031816	Abnormal oral morphology	104	ADARB1	OMIM:618862
HP:0031816	Abnormal oral morphology	9853	RUSC2	OMIM:617773
HP:0031816	Abnormal oral morphology	55870	ASH1L	OMIM:617796
HP:0031816	Abnormal oral morphology	9698	PUM1	OMIM:620719
HP:0031816	Abnormal oral morphology	9698	PUM1	OMIM:617931
HP:0031816	Abnormal oral morphology	10381	TUBB3	ORPHA:300570
HP:0031816	Abnormal oral morphology	85365	ALG2	OMIM:616228
HP:0031816	Abnormal oral morphology	85365	ALG2	OMIM:607906
HP:0031816	Abnormal oral morphology	85365	ALG2	ORPHA:353327
HP:0031816	Abnormal oral morphology	6872	TAF1	ORPHA:480907
HP:0031816	Abnormal oral morphology	84504	NKX6-2	OMIM:617560
HP:0031816	Abnormal oral morphology	1656	DDX6	OMIM:618653
HP:0031816	Abnormal oral morphology	1501	CTNND2	ORPHA:281
HP:0031816	Abnormal oral morphology	9037	SEMA5A	ORPHA:281
HP:0031816	Abnormal oral morphology	88	ACTN2	OMIM:618654
HP:0031816	Abnormal oral morphology	5442	POLRMT	OMIM:619743
HP:0031816	Abnormal oral morphology	4297	KMT2A	ORPHA:319182
HP:0031816	Abnormal oral morphology	4297	KMT2A	OMIM:605130
HP:0031816	Abnormal oral morphology	2783	GNB2	OMIM:619503
HP:0031816	Abnormal oral morphology	4632	MYL1	OMIM:618414
HP:0031816	Abnormal oral morphology	8642	DCHS1	OMIM:601390
HP:0031816	Abnormal oral morphology	3572	IL6ST	OMIM:619752
HP:0031816	Abnormal oral morphology	3572	IL6ST	OMIM:619750
HP:0031816	Abnormal oral morphology	1182	CLCN3	OMIM:619512
HP:0031816	Abnormal oral morphology	10717	AP4B1	OMIM:614066
HP:0031816	Abnormal oral morphology	10717	AP4B1	ORPHA:280763
HP:0031816	Abnormal oral morphology	84665	MYPN	OMIM:617336
HP:0031816	Abnormal oral morphology	84665	MYPN	ORPHA:171881
HP:0031816	Abnormal oral morphology	84665	MYPN	ORPHA:171439
HP:0031816	Abnormal oral morphology	9841	ZBTB24	OMIM:614069
HP:0031816	Abnormal oral morphology	286	ANK1	ORPHA:251066
HP:0031816	Abnormal oral morphology	145258	GSC	OMIM:602471
HP:0031816	Abnormal oral morphology	8314	BAP1	OMIM:619762
HP:0031816	Abnormal oral morphology	57466	SCAF4	OMIM:620511
HP:0031816	Abnormal oral morphology	7841	MOGS	ORPHA:79330
HP:0031816	Abnormal oral morphology	7841	MOGS	OMIM:606056
HP:0031816	Abnormal oral morphology	2271	FH	OMIM:606812
HP:0031816	Abnormal oral morphology	5373	PMM2	ORPHA:79318
HP:0031816	Abnormal oral morphology	23162	MAPK8IP3	OMIM:618443
HP:0031816	Abnormal oral morphology	4123	MAN2C1	OMIM:619775
HP:0031816	Abnormal oral morphology	23219	FBXO28	OMIM:619777
HP:0031816	Abnormal oral morphology	1107	CHD3	OMIM:618205
HP:0031816	Abnormal oral morphology	85459	CEP295	OMIM:620767
HP:0031816	Abnormal oral morphology	10195	ALG3	ORPHA:79321
HP:0031816	Abnormal oral morphology	10195	ALG3	OMIM:601110
HP:0031816	Abnormal oral morphology	3897	L1CAM	OMIM:304100
HP:0031816	Abnormal oral morphology	3763	KCNJ6	OMIM:614098
HP:0031816	Abnormal oral morphology	3763	KCNJ6	ORPHA:435628
HP:0031816	Abnormal oral morphology	164	AP1G1	OMIM:619548
HP:0031816	Abnormal oral morphology	6929	TCF3	ORPHA:33110
HP:0031816	Abnormal oral morphology	7922	SLC39A7	ORPHA:33110
HP:0031816	Abnormal oral morphology	973	CD79A	ORPHA:33110
HP:0031816	Abnormal oral morphology	974	CD79B	ORPHA:33110
HP:0031816	Abnormal oral morphology	6688	SPI1	ORPHA:33110
HP:0031816	Abnormal oral morphology	3543	IGLL1	ORPHA:33110
HP:0031816	Abnormal oral morphology	3507	IGHM	ORPHA:33110
HP:0031816	Abnormal oral morphology	29760	BLNK	ORPHA:33110
HP:0031816	Abnormal oral morphology	56262	LRRC8A	ORPHA:33110
HP:0031816	Abnormal oral morphology	56262	LRRC8A	OMIM:613506
HP:0031816	Abnormal oral morphology	353116	RILPL1	OMIM:619790
HP:0031816	Abnormal oral morphology	353116	RILPL1	ORPHA:98897
HP:0031816	Abnormal oral morphology	84706	GPT2	OMIM:616281
HP:0031816	Abnormal oral morphology	10466	COG5	ORPHA:263487
HP:0031816	Abnormal oral morphology	6477	SIAH1	OMIM:619314
HP:0031816	Abnormal oral morphology	79903	NAA60	OMIM:620786
HP:0031816	Abnormal oral morphology	170689	ADAMTS15	OMIM:620545
HP:0031816	Abnormal oral morphology	9871	SEC24D	OMIM:616294
HP:0031816	Abnormal oral morphology	29998	BICRA	OMIM:619325
HP:0031816	Abnormal oral morphology	157922	CAMSAP1	OMIM:620316
HP:0031816	Abnormal oral morphology	1289	COL5A1	OMIM:619329
HP:0031816	Abnormal oral morphology	6263	RYR3	OMIM:620310
HP:0031816	Abnormal oral morphology	9179	AP4M1	OMIM:612936
HP:0031816	Abnormal oral morphology	9179	AP4M1	ORPHA:280763
HP:0031816	Abnormal oral morphology	1725	DHPS	OMIM:618480
HP:0031816	Abnormal oral morphology	1741	DLG3	OMIM:300850
HP:0031816	Abnormal oral morphology	2530	FUT8	OMIM:618005
HP:0031816	Abnormal oral morphology	7169	TPM2	OMIM:609285
HP:0031816	Abnormal oral morphology	7169	TPM2	ORPHA:171436
HP:0031816	Abnormal oral morphology	7169	TPM2	ORPHA:171881
HP:0031816	Abnormal oral morphology	7169	TPM2	ORPHA:2020
HP:0031816	Abnormal oral morphology	7169	TPM2	ORPHA:1147
HP:0031816	Abnormal oral morphology	7169	TPM2	ORPHA:171439
HP:0031816	Abnormal oral morphology	4141	MARS1	OMIM:620323
HP:0031816	Abnormal oral morphology	23389	MED13L	ORPHA:369891
HP:0031816	Abnormal oral morphology	444	ASPH	OMIM:601552
HP:0031816	Abnormal oral morphology	10483	SEC23B	ORPHA:201
HP:0031816	Abnormal oral morphology	6390	SDHB	ORPHA:201
HP:0031816	Abnormal oral morphology	6392	SDHD	ORPHA:201
HP:0031816	Abnormal oral morphology	6391	SDHC	ORPHA:201
HP:0031816	Abnormal oral morphology	207	AKT1	ORPHA:201
HP:0031816	Abnormal oral morphology	207	AKT1	OMIM:615109
HP:0031816	Abnormal oral morphology	205717	USF3	ORPHA:201
HP:0031816	Abnormal oral morphology	5290	PIK3CA	ORPHA:201
HP:0031816	Abnormal oral morphology	5290	PIK3CA	OMIM:615108
HP:0031816	Abnormal oral morphology	100144748	KLLN	ORPHA:201
HP:0031816	Abnormal oral morphology	9451	EIF2AK3	OMIM:226980
HP:0031816	Abnormal oral morphology	5283	PIGH	OMIM:618010
HP:0031816	Abnormal oral morphology	4015	LOX	OMIM:617168
HP:0031816	Abnormal oral morphology	84896	ATAD1	OMIM:618011
HP:0031816	Abnormal oral morphology	57187	THOC2	ORPHA:457240
HP:0031816	Abnormal oral morphology	9244	CRLF1	OMIM:272430
HP:0031816	Abnormal oral morphology	9244	CRLF1	ORPHA:1545
HP:0031816	Abnormal oral morphology	64864	RFX7	OMIM:620330
HP:0031816	Abnormal oral morphology	10755	GIPC1	ORPHA:98897
HP:0031816	Abnormal oral morphology	100996717	NOTCH2NLC	ORPHA:98897
HP:0031816	Abnormal oral morphology	668	FOXL2	OMIM:110100
HP:0031816	Abnormal oral morphology	51715	RAB23	OMIM:201000
HP:0031816	Abnormal oral morphology	10651	MTX2	OMIM:619127
HP:0031816	Abnormal oral morphology	23529	CLCF1	OMIM:610313
HP:0031816	Abnormal oral morphology	23529	CLCF1	ORPHA:1545
HP:0031816	Abnormal oral morphology	23154	NCDN	OMIM:619373
HP:0031816	Abnormal oral morphology	5528	PPP2R5D	ORPHA:457279
HP:0031816	Abnormal oral morphology	2733	GLE1	OMIM:611890
HP:0031816	Abnormal oral morphology	3295	HSD17B4	OMIM:261515
HP:0031816	Abnormal oral morphology	3295	HSD17B4	OMIM:233400
HP:0031816	Abnormal oral morphology	22800	RRAS2	ORPHA:648
HP:0031816	Abnormal oral morphology	6016	RIT1	ORPHA:648
HP:0031816	Abnormal oral morphology	6237	RRAS	ORPHA:648
HP:0031816	Abnormal oral morphology	6655	SOS2	ORPHA:648
HP:0031816	Abnormal oral morphology	5922	RASA2	ORPHA:648
HP:0031816	Abnormal oral morphology	1795	DOCK3	OMIM:618292
HP:0031816	Abnormal oral morphology	11011	TLK2	OMIM:618050
HP:0031816	Abnormal oral morphology	121340	SP7	OMIM:613849
HP:0031816	Abnormal oral morphology	4702	NDUFA8	OMIM:619272
HP:0031816	Abnormal oral morphology	9131	AIFM1	OMIM:300232
HP:0031816	Abnormal oral morphology	4574	MT-TS1	OMIM:220110
HP:0031816	Abnormal oral morphology	4570	MT-TN	OMIM:220110
HP:0031816	Abnormal oral morphology	6834	SURF1	OMIM:220110
HP:0031816	Abnormal oral morphology	1119	CHKA	OMIM:620023
HP:0031816	Abnormal oral morphology	8443	GNPAT	OMIM:222765
HP:0031816	Abnormal oral morphology	56203	LMOD3	ORPHA:171436
HP:0031816	Abnormal oral morphology	1798	DPAGT1	ORPHA:353327
HP:0031816	Abnormal oral morphology	199857	ALG14	ORPHA:353327
HP:0031816	Abnormal oral morphology	84987	COX14	OMIM:619053
HP:0031816	Abnormal oral morphology	274	BIN1	OMIM:255200
HP:0031816	Abnormal oral morphology	274	BIN1	ORPHA:169186
HP:0031816	Abnormal oral morphology	55107	ANO1	OMIM:620045
HP:0031816	Abnormal oral morphology	1339	COX6A2	OMIM:619062
HP:0031816	Abnormal oral morphology	4633	MYL2	ORPHA:2020
HP:0031816	Abnormal oral morphology	3679	ITGA7	ORPHA:2020
HP:0031816	Abnormal oral morphology	9200	HACD1	ORPHA:2020
HP:0031816	Abnormal oral morphology	51776	MAP3K20	ORPHA:2020
HP:0031816	Abnormal oral morphology	10352	WARS2	ORPHA:572798
HP:0031816	Abnormal oral morphology	23265	EXOC7	OMIM:619072
HP:0031816	Abnormal oral morphology	4953	ODC1	OMIM:619075
HP:0031816	Abnormal oral morphology	10290	SPEG	OMIM:615959
HP:0031816	Abnormal oral morphology	10290	SPEG	ORPHA:169186
HP:0031816	Abnormal oral morphology	51611	DPH5	OMIM:620070
HP:0031816	Abnormal oral morphology	7025	NR2F1	OMIM:615722
HP:0031816	Abnormal oral morphology	3187	HNRNPH1	OMIM:620083
HP:0031816	Abnormal oral morphology	81031	SLC2A10	OMIM:208050
HP:0031816	Abnormal oral morphology	7140	TNNT3	ORPHA:1147
HP:0031816	Abnormal oral morphology	7317	UBA1	ORPHA:1145
HP:0031816	Abnormal oral morphology	390594	KBTBD13	ORPHA:171439
HP:0031816	Abnormal oral morphology	50628	GEMIN4	OMIM:617913
HP:0031816	Abnormal oral morphology	122622	ADSS1	ORPHA:482601
HP:0031816	Abnormal oral morphology	5631	PRPS1	OMIM:300661
HP:0031816	Abnormal oral morphology	667	DST	OMIM:614653
HP:0031816	Abnormal oral morphology	85358	SHANK3	OMIM:606232
HP:0031816	Abnormal oral morphology	5859	QARS1	OMIM:615760
HP:0031816	Abnormal oral morphology	3313	HSPA9	OMIM:616854
HP:0031816	Abnormal oral morphology	10525	HYOU1	OMIM:233600
HP:0031816	Abnormal oral morphology	10157	AASS	ORPHA:2203
HP:0031816	Abnormal oral morphology	79631	EFL1	OMIM:617941
HP:0031816	Abnormal oral morphology	30008	EFEMP2	OMIM:614437
HP:0031816	Abnormal oral morphology	5053	PAH	ORPHA:2209
HP:0031816	Abnormal oral morphology	26224	FBXL3	OMIM:606220
HP:0031816	Abnormal oral morphology	10265	IRX5	OMIM:611174
HP:0031816	Abnormal oral morphology	5605	MAP2K2	ORPHA:1340
HP:0031816	Abnormal oral morphology	51124	IER3IP1	OMIM:614231
HP:0031816	Abnormal oral morphology	54870	QRICH1	OMIM:617982
HP:0031816	Abnormal oral morphology	23431	AP4E1	ORPHA:280763
HP:0031816	Abnormal oral morphology	9320	TRIP12	OMIM:617752
HP:0031816	Abnormal oral morphology	523	ATP6V1A	ORPHA:357074
HP:0031816	Abnormal oral morphology	200205	IBA57	OMIM:615330
HP:0031816	Abnormal oral morphology	1663	DDX11	OMIM:613398
HP:0031816	Abnormal oral morphology	738	VPS51	OMIM:618606
HP:0031816	Abnormal oral morphology	9757	KMT2B	OMIM:619934
HP:0031816	Abnormal oral morphology	57731	SPTBN4	OMIM:617519
HP:0031816	Abnormal oral morphology	9181	ARHGEF2	OMIM:617523
HP:0031816	Abnormal oral morphology	6736	SRY	ORPHA:1772
HP:0031816	Abnormal oral morphology	55753	OGDHL	OMIM:619701
HP:0031816	Abnormal oral morphology	9990	SLC12A6	OMIM:218000
HP:0031816	Abnormal oral morphology	3703	STT3A	OMIM:619714
HP:0031816	Abnormal oral morphology	10026	PIGK	OMIM:618879
HP:0031816	Abnormal oral morphology	29081	METTL5	OMIM:618665
HP:0031816	Abnormal oral morphology	29081	METTL5	ORPHA:2512
HP:0031816	Abnormal oral morphology	1660	DHX9	OMIM:620988
HP:0031816	Abnormal oral morphology	3098	HK1	OMIM:618547
HP:0031816	Abnormal oral morphology	9772	TMEM94	OMIM:618316
HP:0031816	Abnormal oral morphology	2683	B4GALT1	ORPHA:79332
HP:0031816	Abnormal oral morphology	51651	PTRH2	OMIM:616263
HP:0031816	Abnormal oral morphology	51651	PTRH2	ORPHA:456312
HP:0031816	Abnormal oral morphology	79087	ALG12	ORPHA:79324
HP:0031816	Abnormal oral morphology	79087	ALG12	OMIM:607143
HP:0031816	Abnormal oral morphology	1523	CUX1	OMIM:618330
HP:0031816	Abnormal oral morphology	84188	FAR1	OMIM:616154
HP:0031816	Abnormal oral morphology	84188	FAR1	ORPHA:438178
HP:0031816	Abnormal oral morphology	55770	EXOC2	OMIM:619306
HP:0031816	Abnormal oral morphology	6857	SYT1	OMIM:618218
HP:0031816	Abnormal oral morphology	6857	SYT1	ORPHA:522077
HP:0031816	Abnormal oral morphology	835	CASP2	OMIM:620653
HP:0031816	Abnormal oral morphology	5898	RALA	OMIM:619311
HP:0031816	Abnormal oral morphology	23524	SRRM2	OMIM:620439
HP:0031816	Abnormal oral morphology	16	AARS1	OMIM:619691
HP:0031816	Abnormal oral morphology	3183	HNRNPC	OMIM:620688
HP:0031816	Abnormal oral morphology	11212	PLPBP	OMIM:617290
HP:0031816	Abnormal oral morphology	8812	CCNK	OMIM:618147
HP:0031816	Abnormal oral morphology	92002	CCNQ	OMIM:300707
HP:0031816	Abnormal oral morphology	92002	CCNQ	ORPHA:140952
HP:0031816	Abnormal oral morphology	23112	TNRC6B	OMIM:619243
HP:0031816	Abnormal oral morphology	10551	AGR2	OMIM:620233
HP:0031816	Abnormal oral morphology	55252	ASXL2	OMIM:617190
HP:0031816	Abnormal oral morphology	10295	BCKDK	OMIM:614923
HP:0031816	Abnormal oral morphology	4983	OPHN1	OMIM:300486
HP:0031816	Abnormal oral morphology	7175	TPR	OMIM:620393
HP:0031816	Abnormal oral morphology	1185	CLCN6	OMIM:619173
HP:0031816	Abnormal oral morphology	23325	WASHC4	OMIM:615817
HP:0031816	Abnormal oral morphology	26523	AGO1	OMIM:620292
HP:0031816	Abnormal oral morphology	51660	MPC1	OMIM:614741
HP:0031816	Abnormal oral morphology	81887	LAS1L	ORPHA:3459
HP:0031816	Abnormal oral morphology	5591	PRKDC	OMIM:615966
HP:0031816	Abnormal oral morphology	169792	GLIS3	OMIM:610199
HP:0031816	Abnormal oral morphology	84679	SLC9A7	OMIM:301024
HP:0031816	Abnormal oral morphology	64135	IFIH1	OMIM:182250
HP:0031816	Abnormal oral morphology	57211	ADGRG6	OMIM:616503
HP:0031816	Abnormal oral morphology	63932	STEEP1	OMIM:301013
HP:0031816	Abnormal oral morphology	9276	COPB2	ORPHA:2512
HP:0031816	Abnormal oral morphology	9928	KIF14	ORPHA:2512
HP:0031816	Abnormal oral morphology	284403	WDR62	ORPHA:2512
HP:0031816	Abnormal oral morphology	55262	TRAPPC14	ORPHA:2512
HP:0031816	Abnormal oral morphology	163786	SASS6	ORPHA:2512
HP:0031816	Abnormal oral morphology	84879	MFSD2A	ORPHA:2512
HP:0031816	Abnormal oral morphology	4176	MCM7	ORPHA:2512
HP:0031816	Abnormal oral morphology	80254	CEP63	ORPHA:2512
HP:0031816	Abnormal oral morphology	79023	NUP37	ORPHA:2512
HP:0031816	Abnormal oral morphology	23310	NCAPD3	ORPHA:2512
HP:0031816	Abnormal oral morphology	6301	SARS1	ORPHA:2512
HP:0031816	Abnormal oral morphology	55755	CDK5RAP2	ORPHA:2512
HP:0031816	Abnormal oral morphology	79648	MCPH1	ORPHA:2512
HP:0031816	Abnormal oral morphology	7109	TRAPPC10	ORPHA:2512
HP:0031816	Abnormal oral morphology	7453	WARS1	ORPHA:2512
HP:0031816	Abnormal oral morphology	1911	PHC1	ORPHA:2512
HP:0031816	Abnormal oral morphology	1062	CENPE	ORPHA:2512
HP:0031816	Abnormal oral morphology	6884	TAF13	ORPHA:2512
HP:0031816	Abnormal oral morphology	9662	CEP135	ORPHA:2512
HP:0031816	Abnormal oral morphology	57082	KNL1	ORPHA:2512
HP:0031816	Abnormal oral morphology	1021	CDK6	ORPHA:2512
HP:0031816	Abnormal oral morphology	23404	EXOSC2	OMIM:617763
HP:0031816	Abnormal oral morphology	5087	PBX1	OMIM:617641
HP:0031816	Abnormal oral morphology	10844	TUBGCP2	OMIM:618737
HP:0031816	Abnormal oral morphology	84617	TUBB6	OMIM:617732
HP:0031816	Abnormal oral morphology	3674	ITGA2B	OMIM:273800
HP:0031816	Abnormal oral morphology	3674	ITGA2B	ORPHA:849
HP:0031816	Abnormal oral morphology	2811	GP1BA	OMIM:153670
HP:0031816	Abnormal oral morphology	2811	GP1BA	ORPHA:274
HP:0031816	Abnormal oral morphology	2811	GP1BA	OMIM:231200
HP:0031816	Abnormal oral morphology	7454	WAS	OMIM:301000
HP:0031816	Abnormal oral morphology	7454	WAS	ORPHA:906
HP:0031816	Abnormal oral morphology	2815	GP9	ORPHA:274
HP:0031816	Abnormal oral morphology	2815	GP9	OMIM:231200
HP:0031816	Abnormal oral morphology	2266	FGG	OMIM:202400
HP:0031816	Abnormal oral morphology	2266	FGG	ORPHA:98880
HP:0031816	Abnormal oral morphology	2266	FGG	ORPHA:98881
HP:0031816	Abnormal oral morphology	2266	FGG	ORPHA:101041
HP:0031816	Abnormal oral morphology	2243	FGA	OMIM:202400
HP:0031816	Abnormal oral morphology	2243	FGA	ORPHA:98880
HP:0031816	Abnormal oral morphology	2243	FGA	ORPHA:98881
HP:0031816	Abnormal oral morphology	2243	FGA	ORPHA:101041
HP:0031816	Abnormal oral morphology	2244	FGB	OMIM:202400
HP:0031816	Abnormal oral morphology	2244	FGB	ORPHA:98880
HP:0031816	Abnormal oral morphology	2244	FGB	ORPHA:98881
HP:0031816	Abnormal oral morphology	2244	FGB	ORPHA:101041
HP:0031816	Abnormal oral morphology	10068	IL18BP	OMIM:618549
HP:0031816	Abnormal oral morphology	3257	HPS1	OMIM:203300
HP:0031816	Abnormal oral morphology	7456	WIPF1	ORPHA:906
HP:0031816	Abnormal oral morphology	5345	SERPINF2	ORPHA:79
HP:0031816	Abnormal oral morphology	2157	F8	OMIM:306700
HP:0031816	Abnormal oral morphology	2157	F8	ORPHA:169805
HP:0031816	Abnormal oral morphology	84343	HPS3	OMIM:614072
HP:0031816	Abnormal oral morphology	388552	BLOC1S3	OMIM:614077
HP:0031816	Abnormal oral morphology	3998	LMAN1	ORPHA:35909
HP:0031816	Abnormal oral morphology	90411	MCFD2	ORPHA:35909
HP:0031816	Abnormal oral morphology	2162	F13A1	OMIM:613225
HP:0031816	Abnormal oral morphology	2162	F13A1	ORPHA:331
HP:0031816	Abnormal oral morphology	5335	PLCG1	OMIM:620514
HP:0031816	Abnormal oral morphology	2165	F13B	ORPHA:331
HP:0031816	Abnormal oral morphology	9493	KIF23	ORPHA:98870
HP:0031816	Abnormal oral morphology	29127	RACGAP1	ORPHA:98870
HP:0031816	Abnormal oral morphology	63915	BLOC1S5	OMIM:619172
HP:0031816	Abnormal oral morphology	2533	FYB1	OMIM:273900
HP:0031816	Abnormal oral morphology	5551	PRF1	ORPHA:88
HP:0031816	Abnormal oral morphology	2159	F10	OMIM:227600
HP:0031816	Abnormal oral morphology	2159	F10	ORPHA:328
HP:0031816	Abnormal oral morphology	3717	JAK2	ORPHA:729
HP:0031816	Abnormal oral morphology	3690	ITGB3	ORPHA:849
HP:0031816	Abnormal oral morphology	2147	F2	OMIM:613679
HP:0031816	Abnormal oral morphology	9103	FCGR2C	ORPHA:3002
HP:0031816	Abnormal oral morphology	2155	F7	ORPHA:327
HP:0031816	Abnormal oral morphology	2153	F5	ORPHA:326
HP:0031816	Abnormal oral morphology	4615	MYD88	ORPHA:33226
HP:0031816	Abnormal oral morphology	2582	GALE	OMIM:620776
HP:0031816	Abnormal oral morphology	950	SCARB2	ORPHA:77259
HP:0031816	Abnormal oral morphology	6785	ELOVL4	OMIM:614457
HP:0031816	Abnormal oral morphology	54809	SAMD9	OMIM:610455
HP:0031816	Abnormal oral morphology	29927	SEC61A1	OMIM:620674
HP:0031816	Abnormal oral morphology	1536	CYBB	ORPHA:379
HP:0031816	Abnormal oral morphology	4688	NCF2	ORPHA:379
HP:0031816	Abnormal oral morphology	1535	CYBA	ORPHA:379
HP:0031816	Abnormal oral morphology	4689	NCF4	ORPHA:379
HP:0031816	Abnormal oral morphology	79415	CYBC1	ORPHA:379
HP:0031816	Abnormal oral morphology	26235	FBXL4	OMIM:615471
HP:0031816	Abnormal oral morphology	30000	TNPO2	OMIM:619556
HP:0031816	Abnormal oral morphology	2296	FOXC1	ORPHA:782
HP:0031816	Abnormal oral morphology	2067	ERCC1	ORPHA:1466
HP:0031816	Abnormal oral morphology	60401	EDA2R	ORPHA:181
HP:0031816	Abnormal oral morphology	53335	BCL11A	OMIM:617101
HP:0031816	Abnormal oral morphology	4190	MDH1	OMIM:618959
HP:0031816	Abnormal oral morphology	57192	MCOLN1	ORPHA:578
HP:0031816	Abnormal oral morphology	5080	PAX6	ORPHA:893
HP:0031816	Abnormal oral morphology	7490	WT1	ORPHA:893
HP:0031816	Abnormal oral morphology	627	BDNF	ORPHA:893
HP:0031816	Abnormal oral morphology	79989	IFT56	OMIM:619534
HP:0031816	Abnormal oral morphology	138050	HGSNAT	OMIM:252930
HP:0031816	Abnormal oral morphology	4733	DRG1	OMIM:620641
HP:0031816	Abnormal oral morphology	3480	IGF1R	ORPHA:73273
HP:0031816	Abnormal oral morphology	65992	DDRGK1	OMIM:602557
HP:0031816	Abnormal oral morphology	340533	NEXMIF	OMIM:300912
HP:0031816	Abnormal oral morphology	50651	SLC45A1	OMIM:617532
HP:0031816	Abnormal oral morphology	10765	KDM5B	OMIM:618109
HP:0031816	Abnormal oral morphology	23394	ADNP	OMIM:615873
HP:0031816	Abnormal oral morphology	6228	RPS23	OMIM:617412
HP:0031816	Abnormal oral morphology	9759	HDAC4	ORPHA:1001
HP:0031816	Abnormal oral morphology	775	CACNA1C	OMIM:620029
HP:0031816	Abnormal oral morphology	83548	COG3	OMIM:620546
HP:0031816	Abnormal oral morphology	55627	SMPD4	OMIM:618622
HP:0031816	Abnormal oral morphology	1788	DNMT3A	OMIM:615879
HP:0031816	Abnormal oral morphology	9526	MPDU1	OMIM:609180
HP:0031816	Abnormal oral morphology	9526	MPDU1	ORPHA:79323
HP:0031816	Abnormal oral morphology	7518	XRCC4	ORPHA:99812
HP:0031816	Abnormal oral morphology	2702	GJA5	ORPHA:3303
HP:0031816	Abnormal oral morphology	2702	GJA5	OMIM:612474
HP:0031816	Abnormal oral morphology	1482	NKX2-5	ORPHA:3303
HP:0031816	Abnormal oral morphology	137814	NKX2-6	ORPHA:3303
HP:0031816	Abnormal oral morphology	23414	ZFPM2	ORPHA:3303
HP:0031816	Abnormal oral morphology	2626	GATA4	ORPHA:3303
HP:0031816	Abnormal oral morphology	2626	GATA4	ORPHA:251071
HP:0031816	Abnormal oral morphology	3791	KDR	ORPHA:3303
HP:0031816	Abnormal oral morphology	2627	GATA6	ORPHA:3303
HP:0031816	Abnormal oral morphology	2657	GDF1	ORPHA:3303
HP:0031816	Abnormal oral morphology	182	JAG1	ORPHA:3303
HP:0031816	Abnormal oral morphology	140628	GATA5	ORPHA:3303
HP:0031816	Abnormal oral morphology	2324	FLT4	ORPHA:3303
HP:0031816	Abnormal oral morphology	10370	CITED2	ORPHA:3303
HP:0031816	Abnormal oral morphology	55869	HDAC8	OMIM:300882
HP:0031816	Abnormal oral morphology	55869	HDAC8	ORPHA:199
HP:0031816	Abnormal oral morphology	4010	LMX1B	ORPHA:495818
HP:0031816	Abnormal oral morphology	6812	STXBP1	ORPHA:495818
HP:0031816	Abnormal oral morphology	5831	PYCR1	OMIM:614438
HP:0031816	Abnormal oral morphology	150468	CKAP2L	ORPHA:3255
HP:0031816	Abnormal oral morphology	150468	CKAP2L	OMIM:272440
HP:0031816	Abnormal oral morphology	10472	ZBTB18	ORPHA:36367
HP:0031816	Abnormal oral morphology	9126	SMC3	OMIM:610759
HP:0031816	Abnormal oral morphology	9126	SMC3	ORPHA:199
HP:0031816	Abnormal oral morphology	79068	FTO	OMIM:612938
HP:0031816	Abnormal oral morphology	3417	IDH1	ORPHA:99646
HP:0031816	Abnormal oral morphology	90161	HS6ST2	OMIM:301025
HP:0031816	Abnormal oral morphology	22930	RAB3GAP1	OMIM:600118
HP:0031816	Abnormal oral morphology	10484	SEC23A	ORPHA:50814
HP:0031816	Abnormal oral morphology	54496	PRMT7	OMIM:617157
HP:0031816	Abnormal oral morphology	54496	PRMT7	ORPHA:464288
HP:0031816	Abnormal oral morphology	8831	SYNGAP1	ORPHA:544254
HP:0031816	Abnormal oral morphology	9692	PRORP	OMIM:619737
HP:0031816	Abnormal oral morphology	55681	SCYL2	OMIM:618766
HP:0031816	Abnormal oral morphology	29920	PYCR2	ORPHA:481152
HP:0031816	Abnormal oral morphology	29920	PYCR2	OMIM:616420
HP:0031816	Abnormal oral morphology	64093	SMOC1	ORPHA:1106
HP:0031816	Abnormal oral morphology	7319	UBE2A	OMIM:300860
HP:0031816	Abnormal oral morphology	7319	UBE2A	ORPHA:163956
HP:0031816	Abnormal oral morphology	55697	VAC14	ORPHA:3472
HP:0031816	Abnormal oral morphology	8091	HMGA2	ORPHA:94063
HP:0031816	Abnormal oral morphology	23592	LEMD3	ORPHA:94063
HP:0031816	Abnormal oral morphology	84342	COG8	OMIM:611182
HP:0031816	Abnormal oral morphology	25	ABL1	OMIM:617602
HP:0031816	Abnormal oral morphology	8550	MAPKAPK5	OMIM:619869
HP:0031816	Abnormal oral morphology	55012	PPP2R3C	OMIM:618419
HP:0031816	Abnormal oral morphology	649	BMP1	OMIM:614856
HP:0031816	Abnormal oral morphology	124512	METTL23	OMIM:615942
HP:0031816	Abnormal oral morphology	2752	GLUL	OMIM:610015
HP:0031816	Abnormal oral morphology	4247	MGAT2	OMIM:212066
HP:0031816	Abnormal oral morphology	79718	TBL1XR1	ORPHA:487825
HP:0031816	Abnormal oral morphology	79718	TBL1XR1	OMIM:602342
HP:0031816	Abnormal oral morphology	2697	GJA1	OMIM:257850
HP:0031816	Abnormal oral morphology	3192	HNRNPU	ORPHA:238769
HP:0031816	Abnormal oral morphology	23476	BRD4	ORPHA:199
HP:0031816	Abnormal oral morphology	8243	SMC1A	ORPHA:199
HP:0031816	Abnormal oral morphology	6878	TAF6	ORPHA:199
HP:0031816	Abnormal oral morphology	25836	NIPBL	ORPHA:199
HP:0031816	Abnormal oral morphology	29895	MYL11	OMIM:619110
HP:0031816	Abnormal oral morphology	23126	POGZ	OMIM:616364
HP:0031816	Abnormal oral morphology	145173	B3GLCT	OMIM:261540
HP:0031816	Abnormal oral morphology	55699	IARS2	OMIM:616007
HP:0031816	Abnormal oral morphology	117581	TWIST2	OMIM:209885
HP:0031816	Abnormal oral morphology	117581	TWIST2	ORPHA:920
HP:0031816	Abnormal oral morphology	8405	SPOP	OMIM:618829
HP:0031816	Abnormal oral morphology	23630	KCNE5	ORPHA:86818
HP:0031816	Abnormal oral morphology	2182	ACSL4	ORPHA:86818
HP:0031816	Abnormal oral morphology	9949	AMMECR1	ORPHA:86818
HP:0031816	Abnormal oral morphology	6595	SMARCA2	ORPHA:3051
HP:0031816	Abnormal oral morphology	5159	PDGFRB	OMIM:601812
HP:0031816	Abnormal oral morphology	23261	CAMTA1	OMIM:614756
HP:0031816	Abnormal oral morphology	23556	PIGN	OMIM:614080
HP:0031816	Abnormal oral morphology	2332	FMR1	ORPHA:261483
HP:0031816	Abnormal oral morphology	55023	PHIP	OMIM:617991
HP:0031816	Abnormal oral morphology	55023	PHIP	ORPHA:589905
HP:0031816	Abnormal oral morphology	4763	NF1	ORPHA:139474
HP:0031816	Abnormal oral morphology	178	AGL	OMIM:232400
HP:0031816	Abnormal oral morphology	8815	BANF1	OMIM:614008
HP:0031816	Abnormal oral morphology	51594	NBAS	OMIM:614800
HP:0031816	Abnormal oral morphology	10225	CD96	ORPHA:1308
HP:0031816	Abnormal oral morphology	4693	NDP	ORPHA:649
HP:0031816	Abnormal oral morphology	5965	RECQL	OMIM:620370
HP:0031816	Abnormal oral morphology	8621	CDK13	OMIM:617360
HP:0031816	Abnormal oral morphology	221927	BRAT1	OMIM:618056
HP:0031816	Abnormal oral morphology	2703	GJA8	OMIM:612474
HP:0031816	Abnormal oral morphology	5910	RAP1GDS1	OMIM:620655
HP:0031816	Abnormal oral morphology	6888	TALDO1	OMIM:606003
HP:0031816	Abnormal oral morphology	56052	ALG1	OMIM:608540
HP:0031816	Abnormal oral morphology	58499	ZNF462	ORPHA:502430
HP:0031816	Abnormal oral morphology	58499	ZNF462	OMIM:618619
HP:0031816	Abnormal oral morphology	6091	ROBO1	OMIM:620305
HP:0031816	Abnormal oral morphology	5881	RAC3	OMIM:618577
HP:0031816	Abnormal oral morphology	285362	SUMF1	ORPHA:585
HP:0031816	Abnormal oral morphology	4081	MAB21L1	OMIM:618479
HP:0031816	Abnormal oral morphology	8943	AP3D1	OMIM:617050
HP:0031816	Abnormal oral morphology	84265	POLR3GL	OMIM:619234
HP:0031816	Abnormal oral morphology	91461	PKDCC	OMIM:618821
HP:0031816	Abnormal oral morphology	55901	THSD1	OMIM:620244
HP:0031816	Abnormal oral morphology	2801	GOLGA2	OMIM:620240
HP:0031816	Abnormal oral morphology	92935	MARS2	OMIM:616430
HP:0031816	Abnormal oral morphology	5052	PRDX1	OMIM:277400
HP:0031816	Abnormal oral morphology	10559	SLC35A1	OMIM:603585
HP:0031816	Abnormal oral morphology	26038	CHD5	OMIM:619873
HP:0031816	Abnormal oral morphology	3658	IREB2	OMIM:618451
HP:0031816	Abnormal oral morphology	92949	ADAMTSL1	ORPHA:521445
HP:0031816	Abnormal oral morphology	5702	PSMC3	OMIM:619354
HP:0031816	Abnormal oral morphology	83737	ITCH	OMIM:613385
HP:0031816	Abnormal oral morphology	6786	STIM1	OMIM:185070
HP:0031816	Abnormal oral morphology	2893	GRIA4	OMIM:617864
HP:0031816	Abnormal oral morphology	11043	MID2	OMIM:300928
HP:0031816	Abnormal oral morphology	2036	EPB41L1	OMIM:614257
HP:0031816	Abnormal oral morphology	51399	TRAPPC4	OMIM:618741
HP:0031816	Abnormal oral morphology	28981	IFT81	OMIM:617895
HP:0031816	Abnormal oral morphology	8425	LTBP4	OMIM:613177
HP:0031816	Abnormal oral morphology	7360	UGP2	OMIM:618744
HP:0031816	Abnormal oral morphology	3021	H3-3B	OMIM:619721
HP:0031816	Abnormal oral morphology	51741	WWOX	OMIM:616211
HP:0031816	Abnormal oral morphology	55790	CSGALNACT1	OMIM:618870
HP:0031816	Abnormal oral morphology	79868	ALG13	ORPHA:324422
HP:0031816	Abnormal oral morphology	129685	TAF8	OMIM:619972
HP:0031816	Abnormal oral morphology	818	CAMK2G	OMIM:618522
HP:0031816	Abnormal oral morphology	79184	BRCC3	ORPHA:280679
HP:0031816	Abnormal oral morphology	55714	TENM3	OMIM:615145
HP:0031816	Abnormal oral morphology	57282	SLC4A10	OMIM:620746
HP:0031816	Abnormal oral morphology	2550	GABBR1	OMIM:620502
HP:0031816	Abnormal oral morphology	10082	GPC6	OMIM:258315
HP:0031816	Abnormal oral morphology	10082	GPC6	ORPHA:93329
HP:0031816	Abnormal oral morphology	551	AVP	OMIM:125700
HP:0031816	Abnormal oral morphology	440138	ALG11	ORPHA:280071
HP:0031816	Abnormal oral morphology	4781	NFIB	OMIM:618286
HP:0031816	Abnormal oral morphology	55148	UBR7	OMIM:619189
HP:0031816	Abnormal oral morphology	23345	SYNE1	ORPHA:319332
HP:0031816	Abnormal oral morphology	2146	EZH2	OMIM:277590
HP:0031816	Abnormal oral morphology	2146	EZH2	ORPHA:3447
HP:0031816	Abnormal oral morphology	23512	SUZ12	ORPHA:3447
HP:0031816	Abnormal oral morphology	10586	MAB21L2	OMIM:615877
HP:0031816	Abnormal oral morphology	5160	PDHA1	OMIM:312170
HP:0031816	Abnormal oral morphology	1861	TOR1A	OMIM:618947
HP:0031816	Abnormal oral morphology	4659	PPP1R12A	OMIM:618820
HP:0031816	Abnormal oral morphology	28957	MRPS28	OMIM:618958
HP:0031816	Abnormal oral morphology	6591	SNAI2	ORPHA:2884
HP:0031816	Abnormal oral morphology	3815	KIT	ORPHA:2884
HP:0031816	Abnormal oral morphology	22861	NLRP1	OMIM:615225
HP:0031816	Abnormal oral morphology	10749	KIF1C	ORPHA:397946
HP:0031816	Abnormal oral morphology	51728	POLR3K	OMIM:619310
HP:0031816	Abnormal oral morphology	51	ACOX1	ORPHA:2971
HP:0031816	Abnormal oral morphology	55593	OTUD5	OMIM:301056
HP:0031816	Abnormal oral morphology	9690	UBE3C	OMIM:620270
HP:0031816	Abnormal oral morphology	387119	CEP85L	OMIM:618873
HP:0031816	Abnormal oral morphology	6926	TBX3	ORPHA:3138
HP:0031816	Abnormal oral morphology	6926	TBX3	OMIM:181450
HP:0031816	Abnormal oral morphology	3737	KCNA2	ORPHA:442835
HP:0031816	Abnormal oral morphology	8120	AP3B2	ORPHA:442835
HP:0031816	Abnormal oral morphology	10991	SLC38A3	ORPHA:442835
HP:0031816	Abnormal oral morphology	51343	FZR1	ORPHA:442835
HP:0031816	Abnormal oral morphology	3747	KCNC2	ORPHA:442835
HP:0031816	Abnormal oral morphology	2561	GABRB2	ORPHA:442835
HP:0031816	Abnormal oral morphology	2558	GABRA5	ORPHA:442835
HP:0031816	Abnormal oral morphology	2906	GRIN2D	ORPHA:442835
HP:0031816	Abnormal oral morphology	116150	NUS1	ORPHA:442835
HP:0031816	Abnormal oral morphology	23334	SZT2	ORPHA:442835
HP:0031816	Abnormal oral morphology	348980	HCN1	ORPHA:442835
HP:0031816	Abnormal oral morphology	25977	NECAP1	ORPHA:442835
HP:0031816	Abnormal oral morphology	6334	SCN8A	ORPHA:442835
HP:0031816	Abnormal oral morphology	9568	GABBR2	ORPHA:442835
HP:0031816	Abnormal oral morphology	2555	GABRA2	ORPHA:442835
HP:0031816	Abnormal oral morphology	55152	DALRD3	ORPHA:442835
HP:0031816	Abnormal oral morphology	4915	NTRK2	ORPHA:442835
HP:0031816	Abnormal oral morphology	2257	FGF12	ORPHA:442835
HP:0031816	Abnormal oral morphology	22906	TRAK1	ORPHA:442835
HP:0031816	Abnormal oral morphology	2566	GABRG2	ORPHA:442835
HP:0031816	Abnormal oral morphology	7532	YWHAG	ORPHA:442835
HP:0031816	Abnormal oral morphology	79876	UBA5	ORPHA:442835
HP:0031816	Abnormal oral morphology	6328	SCN3A	ORPHA:442835
HP:0031816	Abnormal oral morphology	10659	CELF2	ORPHA:442835
HP:0031816	Abnormal oral morphology	774	CACNA1B	ORPHA:442835
HP:0031816	Abnormal oral morphology	8867	SYNJ1	ORPHA:442835
HP:0031816	Abnormal oral morphology	3745	KCNB1	ORPHA:442835
HP:0031816	Abnormal oral morphology	22866	CNKSR2	ORPHA:442835
HP:0031816	Abnormal oral morphology	79947	DHDDS	ORPHA:442835
HP:0031816	Abnormal oral morphology	11342	RNF13	ORPHA:544503
HP:0031816	Abnormal oral morphology	435	ASL	ORPHA:23
HP:0031816	Abnormal oral morphology	5927	KDM5A	OMIM:620820
HP:0031816	Abnormal oral morphology	123041	SLC24A4	OMIM:615887
HP:0031816	Abnormal oral morphology	9622	KLK4	OMIM:204700
HP:0031816	Abnormal oral morphology	26504	CNNM4	OMIM:217080
HP:0031816	Abnormal oral morphology	84701	COX4I2	OMIM:612714
HP:0031816	Abnormal oral morphology	833	CARS1	ORPHA:33364
HP:0031816	Abnormal oral morphology	136647	MPLKIP	ORPHA:33364
HP:0031816	Abnormal oral morphology	6897	TARS1	ORPHA:33364
HP:0031816	Abnormal oral morphology	2961	GTF2E2	ORPHA:33364
HP:0031816	Abnormal oral morphology	166929	SGMS2	OMIM:126550
HP:0031816	Abnormal oral morphology	1235	CCR6	ORPHA:220393
HP:0031816	Abnormal oral morphology	1490	CCN2	ORPHA:220393
HP:0031816	Abnormal oral morphology	80067	DCAF17	OMIM:241080
HP:0031816	Abnormal oral morphology	10667	FARS2	ORPHA:466722
HP:0031816	Abnormal oral morphology	25871	NEPRO	OMIM:618853
HP:0031816	Abnormal oral morphology	5351	PLOD1	OMIM:225400
HP:0031816	Abnormal oral morphology	816	CAMK2B	OMIM:617799
HP:0031816	Abnormal oral morphology	54543	TOMM7	OMIM:620601
HP:0031816	Abnormal oral morphology	4591	TRIM37	OMIM:253250
HP:0031816	Abnormal oral morphology	9895	TECPR2	OMIM:615031
HP:0031816	Abnormal oral morphology	9895	TECPR2	ORPHA:320385
HP:0031816	Abnormal oral morphology	57498	KIDINS220	OMIM:617296
HP:0031816	Abnormal oral morphology	51341	ZBTB7A	OMIM:619769
HP:0031816	Abnormal oral morphology	113246	C12orf57	OMIM:218340
HP:0031816	Abnormal oral morphology	55084	SOBP	OMIM:613671
HP:0031816	Abnormal oral morphology	284361	EMC10	OMIM:619264
HP:0031816	Abnormal oral morphology	2591	GALNT3	OMIM:211900
HP:0031816	Abnormal oral morphology	865	CBFB	OMIM:620099
HP:0031816	Abnormal oral morphology	224	ALDH3A2	ORPHA:816
HP:0031816	Abnormal oral morphology	9076	CLDN1	ORPHA:59303
HP:0031816	Abnormal oral morphology	79641	ROGDI	ORPHA:1946
HP:0031816	Abnormal oral morphology	64072	CDH23	ORPHA:231169
HP:0031816	Abnormal oral morphology	10083	USH1C	ORPHA:231169
HP:0031816	Abnormal oral morphology	124590	USH1G	ORPHA:231169
HP:0031816	Abnormal oral morphology	83715	ESPN	ORPHA:231169
HP:0031816	Abnormal oral morphology	10518	CIB2	ORPHA:231169
HP:0031816	Abnormal oral morphology	65217	PCDH15	ORPHA:231169
HP:0031816	Abnormal oral morphology	3479	IGF1	ORPHA:73272
HP:0031816	Abnormal oral morphology	55703	POLR3B	OMIM:614381
HP:0031816	Abnormal oral morphology	10491	CRTAP	ORPHA:2050
HP:0031816	Abnormal oral morphology	5034	P4HB	ORPHA:2050
HP:0031816	Abnormal oral morphology	1763	DNA2	OMIM:620819
HP:0031816	Abnormal oral morphology	8675	STX16	ORPHA:94089
HP:0031816	Abnormal oral morphology	29887	SNX10	ORPHA:667
HP:0031816	Abnormal oral morphology	8600	TNFSF11	ORPHA:667
HP:0031816	Abnormal oral morphology	114803	MYSM1	ORPHA:508542
HP:0031816	Abnormal oral morphology	51119	SBDS	ORPHA:811
HP:0031816	Abnormal oral morphology	8200	GDF5	ORPHA:63442
HP:0031816	Abnormal oral morphology	6821	SUOX	OMIM:272300
HP:0031816	Abnormal oral morphology	1594	CYP27B1	OMIM:264700
HP:0031816	Abnormal oral morphology	1594	CYP27B1	ORPHA:289157
HP:0031816	Abnormal oral morphology	6424	SFRP4	OMIM:265900
HP:0031816	Abnormal oral morphology	120227	CYP2R1	ORPHA:289157
HP:0031816	Abnormal oral morphology	7040	TGFB1	ORPHA:1328
HP:0031816	Abnormal oral morphology	60676	PAPPA2	OMIM:619489
HP:0031816	Abnormal oral morphology	5744	PTHLH	OMIM:613382
HP:0031816	Abnormal oral morphology	6506	SLC1A2	OMIM:617105
HP:0031816	Abnormal oral morphology	54757	FAM20A	ORPHA:1031
HP:0031816	Abnormal oral morphology	1758	DMP1	ORPHA:289176
HP:0031816	Abnormal oral morphology	79977	GRHL2	OMIM:616029
HP:0031816	Abnormal oral morphology	4313	MMP2	OMIM:259600
HP:0031816	Abnormal oral morphology	284111	SLC13A5	OMIM:615905
HP:0031816	Abnormal oral morphology	2690	GHR	ORPHA:633
HP:0031816	Abnormal oral morphology	81607	NECTIN4	OMIM:613573
HP:0031816	Abnormal oral morphology	26115	TANC2	OMIM:618906
HP:0031816	Abnormal oral morphology	1747	DLX3	OMIM:190320
HP:0031816	Abnormal oral morphology	1747	DLX3	ORPHA:3352
HP:0031816	Abnormal oral morphology	9442	MED27	OMIM:619286
HP:0031816	Abnormal oral morphology	6904	TBCD	ORPHA:496641
HP:0031816	Abnormal oral morphology	6904	TBCD	OMIM:617193
HP:0031816	Abnormal oral morphology	90	ACVR1	OMIM:135100
HP:0031816	Abnormal oral morphology	153642	ARSK	OMIM:619698
HP:0031816	Abnormal oral morphology	92255	LMBRD2	OMIM:619694
HP:0031816	Abnormal oral morphology	9675	TTI1	OMIM:620445
HP:0031816	Abnormal oral morphology	51109	RDH11	OMIM:616108
HP:0031816	Abnormal oral morphology	10087	CERT1	OMIM:616351
HP:0031816	Abnormal oral morphology	3340	NDST1	OMIM:616116
HP:0031816	Abnormal oral morphology	93650	ACP4	OMIM:617297
HP:0031816	Abnormal oral morphology	5792	PTPRF	OMIM:616001
HP:0031816	Abnormal oral morphology	4677	NARS1	OMIM:619092
HP:0031816	Abnormal oral morphology	5587	PRKD1	OMIM:617364
HP:0031816	Abnormal oral morphology	7102	TSPAN7	OMIM:300210
HP:0031816	Abnormal oral morphology	2778	GNAS	ORPHA:562
HP:0031816	Abnormal oral morphology	54	ACP5	ORPHA:1855
HP:0031816	Abnormal oral morphology	6938	TCF12	OMIM:615314
HP:0031816	Abnormal oral morphology	286077	FAM83H	OMIM:130900
HP:0031816	Abnormal oral morphology	4041	LRP5	OMIM:144750
HP:0031816	Abnormal oral morphology	387	RHOA	OMIM:618727
HP:0031816	Abnormal oral morphology	2776	GNAQ	ORPHA:3205
HP:0031816	Abnormal oral morphology	5130	PCYT1A	OMIM:608940
HP:0031816	Abnormal oral morphology	5361	PLXNA1	OMIM:619955
HP:0031816	Abnormal oral morphology	5932	RBBP8	OMIM:606744
HP:0031816	Abnormal oral morphology	64388	GREM2	OMIM:617275
HP:0031816	Abnormal oral morphology	5116	PCNT	OMIM:210720
HP:0031816	Abnormal oral morphology	5116	PCNT	ORPHA:2637
HP:0031816	Abnormal oral morphology	7399	USH2A	ORPHA:231178
HP:0031816	Abnormal oral morphology	79955	PDZD7	ORPHA:231178
HP:0031816	Abnormal oral morphology	4647	MYO7A	ORPHA:231178
HP:0031816	Abnormal oral morphology	25861	WHRN	ORPHA:231178
HP:0031816	Abnormal oral morphology	84059	ADGRV1	ORPHA:231178
HP:0031816	Abnormal oral morphology	341208	HEPHL1	OMIM:261990
HP:0031816	Abnormal oral morphology	50964	SOST	OMIM:269500
HP:0031816	Abnormal oral morphology	5745	PTH1R	OMIM:156400
HP:0031816	Abnormal oral morphology	165	AEBP1	OMIM:618000
HP:0031816	Abnormal oral morphology	165	AEBP1	ORPHA:536532
HP:0031816	Abnormal oral morphology	6603	SMARCD2	OMIM:617475
HP:0031816	Abnormal oral morphology	56172	ANKH	OMIM:123000
HP:0031816	Abnormal oral morphology	25782	RAB3GAP2	ORPHA:1387
HP:0031816	Abnormal oral morphology	25782	RAB3GAP2	OMIM:212720
HP:0031816	Abnormal oral morphology	5430	POLR2A	OMIM:618603
HP:0031816	Abnormal oral morphology	9839	ZEB2	OMIM:235730
HP:0031816	Abnormal oral morphology	9839	ZEB2	ORPHA:261537
HP:0031816	Abnormal oral morphology	9839	ZEB2	ORPHA:261552
HP:0031816	Abnormal oral morphology	4848	CNOT2	OMIM:618608
HP:0031816	Abnormal oral morphology	2200	FBN1	OMIM:608328
HP:0031816	Abnormal oral morphology	5718	PSMD12	ORPHA:529962
HP:0031816	Abnormal oral morphology	2186	BPTF	ORPHA:529962
HP:0031816	Abnormal oral morphology	81794	ADAMTS10	OMIM:277600
HP:0031816	Abnormal oral morphology	7407	VARS1	OMIM:617802
HP:0031816	Abnormal oral morphology	4868	NPHS1	ORPHA:839
HP:0031816	Abnormal oral morphology	4792	NFKBIA	OMIM:612132
HP:0031816	Abnormal oral morphology	4792	NFKBIA	ORPHA:98813
HP:0031816	Abnormal oral morphology	1834	DSPP	OMIM:125500
HP:0031816	Abnormal oral morphology	64094	SMOC2	OMIM:125400
HP:0031816	Abnormal oral morphology	79879	CCDC134	OMIM:619795
HP:0031816	Abnormal oral morphology	5479	PPIB	OMIM:259440
HP:0031816	Abnormal oral morphology	6678	SPARC	OMIM:616507
HP:0031816	Abnormal oral morphology	387733	IFITM5	OMIM:610967
HP:0031816	Abnormal oral morphology	55151	TMEM38B	OMIM:615066
HP:0031816	Abnormal oral morphology	5176	SERPINF1	OMIM:613982
HP:0031816	Abnormal oral morphology	871	SERPINH1	OMIM:613848
HP:0031816	Abnormal oral morphology	64175	P3H1	OMIM:610915
HP:0031816	Abnormal oral morphology	3689	ITGB2	OMIM:116920
HP:0031816	Abnormal oral morphology	716	C1S	ORPHA:75392
HP:0031816	Abnormal oral morphology	716	C1S	OMIM:617174
HP:0031816	Abnormal oral morphology	715	C1R	ORPHA:75392
HP:0031816	Abnormal oral morphology	715	C1R	OMIM:130080
HP:0031816	Abnormal oral morphology	2248	FGF3	ORPHA:2791
HP:0031816	Abnormal oral morphology	8546	AP3B1	OMIM:608233
HP:0031816	Abnormal oral morphology	55343	SLC35C1	OMIM:266265
HP:0031816	Abnormal oral morphology	1130	LYST	ORPHA:167
HP:0031816	Abnormal oral morphology	1130	LYST	OMIM:214500
HP:0031816	Abnormal oral morphology	6728	SRP19	ORPHA:486
HP:0031816	Abnormal oral morphology	1991	ELANE	ORPHA:486
HP:0031816	Abnormal oral morphology	1991	ELANE	ORPHA:2686
HP:0031816	Abnormal oral morphology	2672	GFI1	ORPHA:486
HP:0031816	Abnormal oral morphology	81570	CLPB	ORPHA:486
HP:0031816	Abnormal oral morphology	375056	MIA3	OMIM:619269
HP:0031816	Abnormal oral morphology	2542	SLC37A4	ORPHA:79259
HP:0031816	Abnormal oral morphology	256764	WDR72	OMIM:613211
HP:0031816	Abnormal oral morphology	80320	SP6	OMIM:620104
HP:0031816	Abnormal oral morphology	55858	TMEM165	OMIM:614727
HP:0031816	Abnormal oral morphology	149461	CLDN19	OMIM:248190
HP:0031816	Abnormal oral morphology	10686	CLDN16	OMIM:248250
HP:0031816	Abnormal oral morphology	152816	ODAPH	OMIM:614832
HP:0031816	Abnormal oral morphology	401138	AMTN	OMIM:617607
HP:0031816	Abnormal oral morphology	4626	MYH8	OMIM:158300
HP:0031816	Abnormal oral morphology	4256	MGP	OMIM:245150
HP:0031816	Abnormal oral morphology	139886	SPIN4	OMIM:301114
HP:0031816	Abnormal oral morphology	51025	PAM16	OMIM:613320
HP:0031816	Abnormal oral morphology	11338	U2AF2	OMIM:620535
HP:0031816	Abnormal oral morphology	137682	NDUFAF6	OMIM:618239
HP:0031816	Abnormal oral morphology	57551	TAOK1	OMIM:619575
HP:0031816	Abnormal oral morphology	8888	MCM3AP	OMIM:618124
HP:0031816	Abnormal oral morphology	388662	SLC6A17	ORPHA:457212
HP:0031816	Abnormal oral morphology	8813	DPM1	OMIM:608799
HP:0031816	Abnormal oral morphology	8813	DPM1	ORPHA:79322
HP:0031816	Abnormal oral morphology	1315	COPB1	OMIM:619255
HP:0031816	Abnormal oral morphology	4629	MYH11	ORPHA:91387
HP:0031816	Abnormal oral morphology	59	ACTA2	ORPHA:91387
HP:0031816	Abnormal oral morphology	5592	PRKG1	ORPHA:91387
HP:0031816	Abnormal oral morphology	2301	FOXE3	ORPHA:91387
HP:0031816	Abnormal oral morphology	4144	MAT2A	ORPHA:91387
HP:0031816	Abnormal oral morphology	23493	HEY2	ORPHA:91387
HP:0031816	Abnormal oral morphology	4638	MYLK	ORPHA:91387
HP:0031816	Abnormal oral morphology	83696	TRAPPC9	OMIM:613192
HP:0031816	Abnormal oral morphology	83696	TRAPPC9	ORPHA:352530
HP:0031816	Abnormal oral morphology	1020	CDK5	OMIM:616342
HP:0031816	Abnormal oral morphology	57531	HACE1	ORPHA:464282
HP:0031816	Abnormal oral morphology	22884	WDR37	OMIM:618652
HP:0031816	Abnormal oral morphology	64327	LMBR1	ORPHA:2378
HP:0031816	Abnormal oral morphology	773	CACNA1A	ORPHA:2131
HP:0031816	Abnormal oral morphology	6507	SLC1A3	ORPHA:2131
HP:0031816	Abnormal oral morphology	477	ATP1A2	ORPHA:2131
HP:0031816	Abnormal oral morphology	478	ATP1A3	ORPHA:2131
HP:0031816	Abnormal oral morphology	4849	CNOT3	OMIM:618672
HP:0031816	Abnormal oral morphology	4692	NDN	ORPHA:98754
HP:0031816	Abnormal oral morphology	4692	NDN	ORPHA:177904
HP:0031816	Abnormal oral morphology	4692	NDN	ORPHA:177901
HP:0031816	Abnormal oral morphology	29926	GMPPA	OMIM:615510
HP:0031816	Abnormal oral morphology	55628	ZNF407	OMIM:619557
HP:0031816	Abnormal oral morphology	100033413	SNORD116-1	OMIM:176270
HP:0031816	Abnormal oral morphology	23742	NPAP1	OMIM:176270
HP:0031816	Abnormal oral morphology	338433	SNORD115-1	OMIM:176270
HP:0031816	Abnormal oral morphology	7681	MKRN3	OMIM:176270
HP:0031816	Abnormal oral morphology	145624	PWAR1	OMIM:176270
HP:0031816	Abnormal oral morphology	3653	IPW	OMIM:176270
HP:0031816	Abnormal oral morphology	791114	PWRN1	OMIM:176270
HP:0031816	Abnormal oral morphology	5575	PRKAR1B	OMIM:619680
HP:0031816	Abnormal oral morphology	23030	KDM4B	OMIM:619320
HP:0031816	Abnormal oral morphology	8882	ZPR1	OMIM:619321
HP:0031816	Abnormal oral morphology	6492	SIM1	ORPHA:398079
HP:0031816	Abnormal oral morphology	3767	KCNJ11	ORPHA:79134
HP:0031816	Abnormal oral morphology	3767	KCNJ11	ORPHA:99885
HP:0031816	Abnormal oral morphology	3767	KCNJ11	OMIM:618856
HP:0031816	Abnormal oral morphology	79731	NARS2	ORPHA:79134
HP:0031816	Abnormal oral morphology	6833	ABCC8	ORPHA:79134
HP:0031816	Abnormal oral morphology	6833	ABCC8	ORPHA:99885
HP:0031816	Abnormal oral morphology	2645	GCK	ORPHA:99885
HP:0031816	Abnormal oral morphology	3651	PDX1	ORPHA:99885
HP:0031816	Abnormal oral morphology	3630	INS	ORPHA:99885
HP:0031816	Abnormal oral morphology	2710	GK	OMIM:307030
HP:0031816	Abnormal oral morphology	10943	MSL3	OMIM:301032
HP:0031816	Abnormal oral morphology	134218	DNAJC21	OMIM:617052
HP:0031816	Abnormal oral morphology	1859	DYRK1A	OMIM:614104
HP:0031816	Abnormal oral morphology	2132	EXT2	ORPHA:52022
HP:0031816	Abnormal oral morphology	51317	PHF21A	ORPHA:52022
HP:0031816	Abnormal oral morphology	6472	SHMT2	OMIM:619121
HP:0031816	Abnormal oral morphology	84628	NTNG2	OMIM:618718
HP:0031816	Abnormal oral morphology	29071	C1GALT1C1	OMIM:301110
HP:0031816	Abnormal oral morphology	57647	DHX37	OMIM:618731
HP:0031816	Abnormal oral morphology	4858	NOVA2	OMIM:618859
HP:0031816	Abnormal oral morphology	7157	TP53	OMIM:618165
HP:0031816	Abnormal oral morphology	3851	KRT4	OMIM:193900
HP:0031816	Abnormal oral morphology	79651	RHBDF2	OMIM:148500
HP:0031816	Abnormal oral morphology	286887	KRT6C	OMIM:615735
HP:0031816	Abnormal oral morphology	6117	RPA1	OMIM:619767
HP:0031816	Abnormal oral morphology	64858	DCLRE1B	OMIM:620133
HP:0031816	Abnormal oral morphology	1277	COL1A1	ORPHA:287
HP:0031816	Abnormal oral morphology	1290	COL5A2	ORPHA:287
HP:0031816	Abnormal oral morphology	3166	HMX1	OMIM:612109
HP:0031816	Abnormal oral morphology	10015	PDCD6IP	OMIM:620047
HP:0031816	Abnormal oral morphology	1729	DIAPH1	ORPHA:494444
HP:0031816	Abnormal oral morphology	57217	TTC7A	OMIM:243150
HP:0031816	Abnormal oral morphology	326	AIRE	OMIM:240300
HP:0031816	Abnormal oral morphology	5062	PAK2	OMIM:618458
HP:0031816	Abnormal oral morphology	3149	HMGB3	OMIM:300915
HP:0031816	Abnormal oral morphology	64518	TEKT3	OMIM:620277
HP:0031816	Abnormal oral morphology	50485	SMARCAL1	ORPHA:1830
HP:0031816	Abnormal oral morphology	284654	RSPO1	OMIM:610644
HP:0031816	Abnormal oral morphology	55131	RBM28	ORPHA:157954
HP:0031816	Abnormal oral morphology	6197	RPS6KA3	ORPHA:192
HP:0031816	Abnormal oral morphology	1593	CYP27A1	ORPHA:909
HP:0031816	Abnormal oral morphology	2355	FOSL2	OMIM:620789
HP:0031816	Abnormal oral morphology	23328	SASH1	OMIM:618373
HP:0031816	Abnormal oral morphology	11285	B4GALT7	ORPHA:75496
HP:0031816	Abnormal oral morphology	3190	HNRNPK	ORPHA:453504
HP:0031816	Abnormal oral morphology	3190	HNRNPK	ORPHA:352665
HP:0031816	Abnormal oral morphology	5813	PURA	ORPHA:438216
HP:0031816	Abnormal oral morphology	6804	STX1A	ORPHA:904
HP:0031816	Abnormal oral morphology	7461	CLIP2	ORPHA:904
HP:0031816	Abnormal oral morphology	84277	DNAJC30	ORPHA:904
HP:0031816	Abnormal oral morphology	8468	FKBP6	ORPHA:904
HP:0031816	Abnormal oral morphology	5982	RFC2	ORPHA:904
HP:0031816	Abnormal oral morphology	2969	GTF2I	ORPHA:904
HP:0031816	Abnormal oral morphology	3984	LIMK1	ORPHA:904
HP:0031816	Abnormal oral morphology	9569	GTF2IRD1	ORPHA:904
HP:0031816	Abnormal oral morphology	155382	VPS37D	ORPHA:904
HP:0031816	Abnormal oral morphology	155368	METTL27	ORPHA:904
HP:0031816	Abnormal oral morphology	114049	BUD23	ORPHA:904
HP:0031816	Abnormal oral morphology	7458	EIF4H	ORPHA:904
HP:0031816	Abnormal oral morphology	84163	GTF2IRD2	ORPHA:904
HP:0031816	Abnormal oral morphology	26608	TBL2	ORPHA:904
HP:0031816	Abnormal oral morphology	653361	NCF1	ORPHA:904
HP:0031816	Abnormal oral morphology	135886	TMEM270	ORPHA:904
HP:0031816	Abnormal oral morphology	9031	BAZ1B	ORPHA:904
HP:0031816	Abnormal oral morphology	2006	ELN	ORPHA:904
HP:0031816	Abnormal oral morphology	118429	ANTXR2	ORPHA:2176
HP:0031816	Abnormal oral morphology	4893	NRAS	OMIM:163200
HP:0031816	Abnormal oral morphology	3845	KRAS	OMIM:163200
HP:0031816	Abnormal oral morphology	79719	AAGAB	OMIM:148600
HP:0031816	Abnormal oral morphology	284058	KANSL1	ORPHA:363965
HP:0031816	Abnormal oral morphology	284058	KANSL1	ORPHA:363958
HP:0031816	Abnormal oral morphology	1717	DHCR7	ORPHA:818
HP:0031816	Abnormal oral morphology	112802	KRT71	OMIM:615896
HP:0031816	Abnormal oral morphology	1476	CSTB	ORPHA:248
HP:0031816	Abnormal oral morphology	54795	TRPM4	OMIM:618531
HP:0031816	Abnormal oral morphology	7700	ZNF141	OMIM:615226
HP:0031816	Abnormal oral morphology	6304	SATB1	OMIM:619229
HP:0031816	Abnormal oral morphology	9361	LONP1	ORPHA:1458
HP:0031816	Abnormal oral morphology	2972	BRF1	ORPHA:444072
HP:0031816	Abnormal oral morphology	3170	FOXA2	ORPHA:95494
HP:0031816	Abnormal oral morphology	5307	PITX1	OMIM:119800
HP:0031816	Abnormal oral morphology	3694	ITGB6	OMIM:616221
HP:0031816	Abnormal oral morphology	84957	RELT	OMIM:618386
HP:0031816	Abnormal oral morphology	8111	GPR68	OMIM:617217
HP:0031816	Abnormal oral morphology	10117	ENAM	OMIM:204650
HP:0031816	Abnormal oral morphology	9313	MMP20	OMIM:612529
HP:0031816	Abnormal oral morphology	1804	DPP6	ORPHA:2514
HP:0031816	Abnormal oral morphology	90993	CREB3L1	OMIM:616229
HP:0031816	Abnormal oral morphology	79902	NUP85	ORPHA:808
HP:0031816	Abnormal oral morphology	84126	ATRIP	ORPHA:808
HP:0031816	Abnormal oral morphology	10293	TRAIP	ORPHA:808
HP:0031816	Abnormal oral morphology	10733	PLK4	ORPHA:808
HP:0031816	Abnormal oral morphology	9241	NOG	OMIM:186500
HP:0031816	Abnormal oral morphology	5371	PML	ORPHA:520
HP:0031816	Abnormal oral morphology	5914	RARA	ORPHA:520
HP:0031816	Abnormal oral morphology	359948	IRF2BP2	ORPHA:520
HP:0031816	Abnormal oral morphology	81608	FIP1L1	ORPHA:520
HP:0031816	Abnormal oral morphology	64859	NABP1	ORPHA:520
HP:0031816	Abnormal oral morphology	6777	STAT5B	ORPHA:520
HP:0031816	Abnormal oral morphology	4926	NUMA1	ORPHA:520
HP:0031816	Abnormal oral morphology	7704	ZBTB16	ORPHA:520
HP:0031816	Abnormal oral morphology	2642	GCGR	ORPHA:438274
HP:0031816	Abnormal oral morphology	3702	ITK	OMIM:613011
HP:0031816	Abnormal oral morphology	84876	ORAI1	OMIM:612782
HP:0031816	Abnormal oral morphology	399	RHOH	OMIM:618307
HP:0031816	Abnormal oral morphology	10379	IRF9	OMIM:618648
HP:0031816	Abnormal oral morphology	3557	IL1RN	OMIM:612852
HP:0031816	Abnormal oral morphology	25974	MMACHC	ORPHA:79282
HP:0031816	Abnormal oral morphology	3117	HLA-DQA1	OMIM:212750
HP:0031816	Abnormal oral morphology	3119	HLA-DQB1	OMIM:212750
HP:0031816	Abnormal oral morphology	7535	ZAP70	ORPHA:911
HP:0031816	Abnormal oral morphology	8942	KYNU	ORPHA:79155
HP:0031816	Abnormal oral morphology	959	CD40LG	OMIM:308230
HP:0031816	Abnormal oral morphology	90417	KNSTRN	OMIM:613328
HP:0031816	Abnormal oral morphology	90417	KNSTRN	ORPHA:221139
HP:0031816	Abnormal oral morphology	5293	PIK3CD	OMIM:613328
HP:0031816	Abnormal oral morphology	5293	PIK3CD	ORPHA:221139
HP:0031816	Abnormal oral morphology	84196	USP48	ORPHA:96253
HP:0031816	Abnormal oral morphology	9101	USP8	ORPHA:96253
HP:0031816	Abnormal oral morphology	2908	NR3C1	ORPHA:96253
HP:0031816	Abnormal oral morphology	4967	OGDH	ORPHA:31
HP:0031816	Abnormal oral morphology	3123	HLA-DRB1	OMIM:181000
HP:0031816	Abnormal oral morphology	64127	NOD2	ORPHA:90340
HP:0031816	Abnormal oral morphology	567	B2M	ORPHA:314652
HP:0031816	Abnormal oral morphology	10736	SIX2	ORPHA:488437
HP:0031816	Abnormal oral morphology	5457	POU4F1	OMIM:619352
HP:0031816	Abnormal oral morphology	3899	AFF3	OMIM:619297
HP:0031816	Abnormal oral morphology	57479	PRR12	OMIM:619539
HP:0031816	Abnormal oral morphology	4312	MMP1	ORPHA:79408
HP:0031816	Abnormal oral morphology	1294	COL7A1	ORPHA:79408
HP:0031816	Abnormal oral morphology	1294	COL7A1	ORPHA:89842
HP:0031816	Abnormal oral morphology	9578	CDC42BPB	OMIM:619841
HP:0031816	Abnormal oral morphology	63901	FAM111A	OMIM:602361
HP:0031816	Abnormal oral morphology	55112	DYNC2I1	ORPHA:93271
HP:0031816	Abnormal oral morphology	57560	IFT80	ORPHA:93271
HP:0031816	Abnormal oral morphology	89891	DYNC2I2	ORPHA:93271
HP:0031816	Abnormal oral morphology	265	AMELX	OMIM:301200
HP:0031816	Abnormal oral morphology	5251	PHEX	ORPHA:89936
HP:0031816	Abnormal oral morphology	8294	H4C9	OMIM:619951
HP:0031816	Abnormal oral morphology	1436	CSF1R	OMIM:618476
HP:0031816	Abnormal oral morphology	161725	OTUD7A	OMIM:620790
HP:0031816	Abnormal oral morphology	5119	CHMP1A	OMIM:614961
HP:0031816	Abnormal oral morphology	9581	PREPL	OMIM:616224
HP:0031816	Abnormal oral morphology	26999	CYFIP2	OMIM:618008
HP:0031816	Abnormal oral morphology	1760	DMPK	ORPHA:589821
HP:0031816	Abnormal oral morphology	10367	MICU1	OMIM:615673
HP:0031816	Abnormal oral morphology	9230	RAB11B	OMIM:617807
HP:0031816	Abnormal oral morphology	3145	HMBS	OMIM:620704
HP:0031816	Abnormal oral morphology	9289	ADGRG1	ORPHA:98889
HP:0031816	Abnormal oral morphology	5297	PI4KA	ORPHA:98889
HP:0031816	Abnormal oral morphology	27286	SRPX2	ORPHA:98889
HP:0031816	Abnormal oral morphology	4758	NEU1	ORPHA:93399
HP:0031816	Abnormal oral morphology	4758	NEU1	ORPHA:93400
HP:0031816	Abnormal oral morphology	1759	DNM1	OMIM:620352
HP:0031816	Abnormal oral morphology	9321	TRIP11	OMIM:200600
HP:0031816	Abnormal oral morphology	4001	LMNB1	OMIM:619179
HP:0031816	Abnormal oral morphology	2898	GRIK2	OMIM:619580
HP:0031816	Abnormal oral morphology	1193	CLIC2	ORPHA:324410
HP:0031816	Abnormal oral morphology	23230	VPS13A	ORPHA:2388
HP:0031816	Abnormal oral morphology	258	AMBN	OMIM:616270
HP:0031816	Abnormal oral morphology	6768	ST14	OMIM:602400
HP:0031816	Abnormal oral morphology	23111	SPART	ORPHA:101000
HP:0031816	Abnormal oral morphology	91801	ALKBH8	OMIM:618504
HP:0031816	Abnormal oral morphology	64421	DCLRE1C	ORPHA:275
HP:0031816	Abnormal oral morphology	1053	CEBPE	OMIM:260570
HP:0031816	Abnormal oral morphology	6097	RORC	OMIM:616622
HP:0031816	Abnormal oral morphology	6789	STK4	OMIM:614868
HP:0031816	Abnormal oral morphology	51311	TLR8	OMIM:301078
HP:0031816	Abnormal oral morphology	4598	MVK	ORPHA:343
HP:0031816	Abnormal oral morphology	9948	WDR1	OMIM:150550
HP:0031816	Abnormal oral morphology	3569	IL6	OMIM:266600
HP:0031816	Abnormal oral morphology	146206	CARMIL2	OMIM:618131
HP:0031816	Abnormal oral morphology	148022	TICAM1	OMIM:614850
HP:0031816	Abnormal oral morphology	91662	NLRP12	OMIM:611762
HP:0031816	Abnormal oral morphology	149233	IL23R	ORPHA:117
HP:0031816	Abnormal oral morphology	4210	MEFV	ORPHA:117
HP:0031816	Abnormal oral morphology	1230	CCR1	ORPHA:117
HP:0031816	Abnormal oral morphology	3592	IL12A	ORPHA:117
HP:0031816	Abnormal oral morphology	101928376	IL12A-AS1	ORPHA:117
HP:0031816	Abnormal oral morphology	7099	TLR4	ORPHA:117
HP:0031816	Abnormal oral morphology	3459	IFNGR1	ORPHA:117
HP:0031816	Abnormal oral morphology	337867	UBAC2	ORPHA:117
HP:0031816	Abnormal oral morphology	51752	ERAP1	ORPHA:117
HP:0031816	Abnormal oral morphology	8302	KLRC4	ORPHA:117
HP:0031816	Abnormal oral morphology	56244	BTNL2	ORPHA:797
HP:0031816	Abnormal oral morphology	488	ATP2A2	OMIM:124200
HP:0031816	Abnormal oral morphology	1893	ECM1	ORPHA:530
HP:0031816	Abnormal oral morphology	3909	LAMA3	ORPHA:79404
HP:0031816	Abnormal oral morphology	3918	LAMC2	ORPHA:79404
HP:0031816	Abnormal oral morphology	3914	LAMB3	ORPHA:79404
HP:0031816	Abnormal oral morphology	6288	SAA1	ORPHA:85445
HP:0031816	Abnormal oral morphology	9508	ADAMTS3	ORPHA:2136
HP:0031816	Abnormal oral morphology	147372	CCBE1	ORPHA:2136
HP:0031816	Abnormal oral morphology	79633	FAT4	ORPHA:2136
HP:0031816	Abnormal oral morphology	81858	SHARPIN	OMIM:620795
HP:0031816	Abnormal oral morphology	4067	LYN	OMIM:620376
HP:0031816	Abnormal oral morphology	11113	CIT	OMIM:617090
HP:0031816	Abnormal oral morphology	11253	MAN1B1	ORPHA:397941
HP:0031816	Abnormal oral morphology	54084	TSPEAR	OMIM:618180
HP:0031816	Abnormal oral morphology	8367	H4C5	OMIM:619950
HP:0031816	Abnormal oral morphology	8506	CNTNAP1	OMIM:618186
HP:0031816	Abnormal oral morphology	26128	KIFBP	OMIM:609460
HP:0031816	Abnormal oral morphology	6659	SOX4	OMIM:618506
HP:0031816	Abnormal oral morphology	5894	RAF1	OMIM:611553
HP:0031816	Abnormal oral morphology	4784	NFIX	ORPHA:447980
HP:0031816	Abnormal oral morphology	65082	VPS33A	OMIM:617303
HP:0031816	Abnormal oral morphology	65082	VPS33A	ORPHA:505248
HP:0031816	Abnormal oral morphology	55780	ERMARD	ORPHA:75857
HP:0031816	Abnormal oral morphology	3764	KCNJ8	ORPHA:1517
HP:0031816	Abnormal oral morphology	10060	ABCC9	ORPHA:1517
HP:0031816	Abnormal oral morphology	57231	SNX14	ORPHA:397709
HP:0031816	Abnormal oral morphology	57231	SNX14	OMIM:616354
HP:0031816	Abnormal oral morphology	2590	GALNT2	OMIM:618885
HP:0031816	Abnormal oral morphology	80204	FBXO11	OMIM:618089
HP:0031816	Abnormal oral morphology	7021	TFAP2B	ORPHA:46627
HP:0031816	Abnormal oral morphology	3423	IDS	ORPHA:217085
HP:0031816	Abnormal oral morphology	3423	IDS	ORPHA:217093
HP:0031816	Abnormal oral morphology	93627	TBCK	OMIM:616900
HP:0031816	Abnormal oral morphology	8289	ARID1A	OMIM:614607
HP:0031816	Abnormal oral morphology	6598	SMARCB1	OMIM:614608
HP:0031816	Abnormal oral morphology	22872	SEC31A	OMIM:618651
HP:0031816	Abnormal oral morphology	4174	MCM5	OMIM:617564
HP:0031816	Abnormal oral morphology	4338	MOCS2	OMIM:252160
HP:0031816	Abnormal oral morphology	200734	SPRED2	OMIM:619745
HP:0031816	Abnormal oral morphology	11193	WBP4	OMIM:620852
HP:0031816	Abnormal oral morphology	79158	GNPTAB	OMIM:252600
HP:0031816	Abnormal oral morphology	3425	IDUA	OMIM:607014
HP:0031816	Abnormal oral morphology	3425	IDUA	OMIM:607015
HP:0031816	Abnormal oral morphology	3425	IDUA	ORPHA:93474
HP:0031816	Abnormal oral morphology	3425	IDUA	ORPHA:93473
HP:0031816	Abnormal oral morphology	26834	RNU4-2	OMIM:620851
HP:0031816	Abnormal oral morphology	11154	AP4S1	OMIM:614067
HP:0031816	Abnormal oral morphology	26053	AUTS2	OMIM:615834
HP:0031816	Abnormal oral morphology	54828	BCAS3	OMIM:619641
HP:0031816	Abnormal oral morphology	7750	ZMYM2	OMIM:619522
HP:0031816	Abnormal oral morphology	27086	FOXP1	ORPHA:391372
HP:0031816	Abnormal oral morphology	56098	PCDHGC4	OMIM:619880
HP:0031816	Abnormal oral morphology	9158	FIBP	OMIM:617107
HP:0031816	Abnormal oral morphology	9158	FIBP	ORPHA:500095
HP:0031816	Abnormal oral morphology	388015	RTL1	ORPHA:96334
HP:0031816	Abnormal oral morphology	8788	DLK1	ORPHA:96334
HP:0031816	Abnormal oral morphology	55384	MEG3	ORPHA:96334
HP:0031816	Abnormal oral morphology	57724	EPG5	OMIM:242840
HP:0031816	Abnormal oral morphology	7030	TFE3	OMIM:301066
HP:0031816	Abnormal oral morphology	7355	SLC35A2	OMIM:300896
HP:0031816	Abnormal oral morphology	26047	CNTNAP2	OMIM:610042
HP:0031816	Abnormal oral morphology	10735	STAG2	ORPHA:521258
HP:0031816	Abnormal oral morphology	51574	LARP7	ORPHA:319671
HP:0031816	Abnormal oral morphology	51574	LARP7	OMIM:615071
HP:0031816	Abnormal oral morphology	79791	FBXO31	OMIM:615979
HP:0031816	Abnormal oral morphology	85440	DOCK7	OMIM:615859
HP:0031816	Abnormal oral morphology	85440	DOCK7	ORPHA:411986
HP:0031816	Abnormal oral morphology	3756	KCNH1	OMIM:611816
HP:0031816	Abnormal oral morphology	3756	KCNH1	OMIM:135500
HP:0031816	Abnormal oral morphology	3756	KCNH1	ORPHA:420561
HP:0031816	Abnormal oral morphology	867	CBL	OMIM:613563
HP:0031816	Abnormal oral morphology	51013	EXOSC1	OMIM:619304
HP:0031816	Abnormal oral morphology	51053	GMNN	OMIM:616835
HP:0031816	Abnormal oral morphology	51053	GMNN	ORPHA:2554
HP:0031816	Abnormal oral morphology	2719	GPC3	OMIM:312870
HP:0031816	Abnormal oral morphology	2239	GPC4	OMIM:312870
HP:0031816	Abnormal oral morphology	6664	SOX11	OMIM:615866
HP:0031816	Abnormal oral morphology	6654	SOS1	OMIM:610733
HP:0031816	Abnormal oral morphology	8905	AP1S2	OMIM:304340
HP:0031816	Abnormal oral morphology	3720	JARID2	OMIM:620098
HP:0031816	Abnormal oral morphology	4054	LTBP3	OMIM:617809
HP:0031816	Abnormal oral morphology	91949	COG7	OMIM:608779
HP:0031816	Abnormal oral morphology	23013	SPEN	OMIM:619312
HP:0031816	Abnormal oral morphology	8473	OGT	OMIM:300997
HP:0031816	Abnormal oral morphology	54517	PUS7	OMIM:618342
HP:0031816	Abnormal oral morphology	6418	SET	OMIM:618106
HP:0031816	Abnormal oral morphology	53616	ADAM22	OMIM:617933
HP:0031816	Abnormal oral morphology	23363	OBSL1	OMIM:612921
HP:0031816	Abnormal oral morphology	2334	AFF2	ORPHA:100973
HP:0031816	Abnormal oral morphology	2334	AFF2	OMIM:309548
HP:0031816	Abnormal oral morphology	57511	COG6	ORPHA:363523
HP:0031816	Abnormal oral morphology	100151683	RNU4ATAC	OMIM:226960
HP:0031816	Abnormal oral morphology	100151683	RNU4ATAC	ORPHA:2636
HP:0031816	Abnormal oral morphology	5934	RBL2	OMIM:619690
HP:0031816	Abnormal oral morphology	83999	KREMEN1	OMIM:617392
HP:0031816	Abnormal oral morphology	56915	EXOSC5	OMIM:619576
HP:0031816	Abnormal oral morphology	4998	ORC1	OMIM:224690
HP:0031816	Abnormal oral morphology	4998	ORC1	ORPHA:2554
HP:0031816	Abnormal oral morphology	5530	PPP3CA	OMIM:617711
HP:0031816	Abnormal oral morphology	7965	AIMP2	OMIM:618006
HP:0031816	Abnormal oral morphology	83987	CCDC8	OMIM:614205
HP:0031816	Abnormal oral morphology	81620	CDT1	ORPHA:2554
HP:0031816	Abnormal oral morphology	5000	ORC4	ORPHA:2554
HP:0031816	Abnormal oral morphology	23594	ORC6	ORPHA:2554
HP:0031816	Abnormal oral morphology	23594	ORC6	OMIM:613803
HP:0031816	Abnormal oral morphology	8318	CDC45	ORPHA:2554
HP:0031816	Abnormal oral morphology	990	CDC6	ORPHA:2554
HP:0031816	Abnormal oral morphology	990	CDC6	OMIM:613805
HP:0031816	Abnormal oral morphology	6045	RNF2	OMIM:619460
HP:0031816	Abnormal oral morphology	6792	CDKL5	ORPHA:505652
HP:0031816	Abnormal oral morphology	9509	ADAMTS2	OMIM:225410
HP:0031816	Abnormal oral morphology	22808	MRAS	OMIM:618499
HP:0031816	Abnormal oral morphology	54681	P4HTM	OMIM:618493
HP:0031816	Abnormal oral morphology	26040	SETBP1	OMIM:616078
HP:0031816	Abnormal oral morphology	3188	HNRNPH2	OMIM:300986
HP:0031816	Abnormal oral morphology	51305	KCNK9	ORPHA:166108
HP:0031816	Abnormal oral morphology	4613	MYCN	OMIM:164280
HP:0031816	Abnormal oral morphology	79644	SRD5A3	OMIM:612713
HP:0031816	Abnormal oral morphology	6874	TAF4	OMIM:620450
HP:0031816	Abnormal oral morphology	57003	CCDC47	OMIM:618268
HP:0031816	Abnormal oral morphology	2892	GRIA3	ORPHA:364028
HP:0031816	Abnormal oral morphology	6711	SPTBN1	OMIM:619475
HP:0031816	Abnormal oral morphology	4337	MOCS1	OMIM:252150
HP:0031816	Abnormal oral morphology	80232	WDR26	OMIM:617616
HP:0031816	Abnormal oral morphology	285590	SH3PXD2B	ORPHA:137834
HP:0031816	Abnormal oral morphology	10283	CWC27	OMIM:250410
HP:0031816	Abnormal oral morphology	11198	SUPT16H	OMIM:619480
HP:0031816	Abnormal oral morphology	2077	ERF	OMIM:617180
HP:0031816	Abnormal oral morphology	374879	ZNF699	OMIM:619488
HP:0031816	Abnormal oral morphology	8567	MADD	OMIM:619005
HP:0031816	Abnormal oral morphology	29123	ANKRD11	ORPHA:261250
HP:0031816	Abnormal oral morphology	3832	KIF11	ORPHA:2526
HP:0031816	Abnormal oral morphology	2890	GRIA1	OMIM:619927
HP:0031816	Abnormal oral morphology	118924	FRA10AC1	OMIM:620113
HP:0031816	Abnormal oral morphology	8911	CACNA1I	OMIM:620114
HP:0031816	Abnormal oral morphology	2799	GNS	OMIM:252940
HP:0031816	Abnormal oral morphology	2273	FHL1	OMIM:300280
HP:0031816	Abnormal oral morphology	80267	EDEM3	OMIM:619493
HP:0031816	Abnormal oral morphology	4841	NONO	ORPHA:466791
HP:0031816	Abnormal oral morphology	54187	NANS	OMIM:610442
HP:0031816	Abnormal oral morphology	1968	EIF2S3	ORPHA:85282
HP:0031816	Abnormal oral morphology	5557	PRIM1	OMIM:620005
HP:0031816	Abnormal oral morphology	64131	XYLT1	ORPHA:370930
HP:0031816	Abnormal oral morphology	129285	PPP1R21	OMIM:619383
HP:0031816	Abnormal oral morphology	55181	SMG8	OMIM:619268
HP:0031816	Abnormal oral morphology	55367	PIDD1	OMIM:619827
HP:0031816	Abnormal oral morphology	84148	KAT8	OMIM:618974
HP:0031816	Abnormal oral morphology	283450	HECTD4	OMIM:620250
HP:0031816	Abnormal oral morphology	404672	GTF2H5	OMIM:616395
HP:0031816	Abnormal oral morphology	204219	CERS3	OMIM:615023
HP:0031816	Abnormal oral morphology	51099	ABHD5	ORPHA:98907
HP:0031816	Abnormal oral morphology	51163	DBR1	OMIM:620510
HP:0031816	Abnormal oral morphology	2483	FRG1	OMIM:158900
HP:0031816	Abnormal oral morphology	80025	PANK2	ORPHA:216873
HP:0031816	Abnormal oral morphology	8106	PABPN1	ORPHA:270
HP:0031816	Abnormal oral morphology	339855	KY	OMIM:617114
HP:0031816	Abnormal oral morphology	339855	KY	ORPHA:496689
HP:0031816	Abnormal oral morphology	10133	OPTN	OMIM:613435
HP:0031816	Abnormal oral morphology	10133	OPTN	ORPHA:803
HP:0031816	Abnormal oral morphology	81846	SBF2	ORPHA:99956
HP:0031816	Abnormal oral morphology	25978	CHMP2B	ORPHA:803
HP:0031816	Abnormal oral morphology	3178	HNRNPA1	ORPHA:803
HP:0031816	Abnormal oral morphology	8148	TAF15	ORPHA:803
HP:0031816	Abnormal oral morphology	5445	PON2	ORPHA:803
HP:0031816	Abnormal oral morphology	9217	VAPB	ORPHA:803
HP:0031816	Abnormal oral morphology	8878	SQSTM1	ORPHA:803
HP:0031816	Abnormal oral morphology	5630	PRPH	ORPHA:803
HP:0031816	Abnormal oral morphology	29110	TBK1	ORPHA:803
HP:0031816	Abnormal oral morphology	55830	GLT8D1	ORPHA:803
HP:0031816	Abnormal oral morphology	755	CFAP410	ORPHA:803
HP:0031816	Abnormal oral morphology	10891	PPARGC1A	ORPHA:803
HP:0031816	Abnormal oral morphology	6647	SOD1	ORPHA:803
HP:0031816	Abnormal oral morphology	1639	DCTN1	ORPHA:803
HP:0031816	Abnormal oral morphology	5444	PON1	ORPHA:803
HP:0031816	Abnormal oral morphology	5446	PON3	ORPHA:803
HP:0031816	Abnormal oral morphology	4744	NEFH	ORPHA:803
HP:0031816	Abnormal oral morphology	5216	PFN1	ORPHA:803
HP:0031816	Abnormal oral morphology	9782	MATR3	ORPHA:803
HP:0031816	Abnormal oral morphology	54209	TREM2	ORPHA:803
HP:0031816	Abnormal oral morphology	7415	VCP	ORPHA:803
HP:0031816	Abnormal oral morphology	283	ANG	ORPHA:803
HP:0031816	Abnormal oral morphology	23435	TARDBP	ORPHA:803
HP:0031816	Abnormal oral morphology	29978	UBQLN2	ORPHA:803
HP:0031816	Abnormal oral morphology	2521	FUS	ORPHA:803
HP:0031816	Abnormal oral morphology	6311	ATXN2	ORPHA:803
HP:0031816	Abnormal oral morphology	1610	DAO	ORPHA:803
HP:0031816	Abnormal oral morphology	2066	ERBB4	ORPHA:803
HP:0031816	Abnormal oral morphology	311	ANXA11	ORPHA:803
HP:0031816	Abnormal oral morphology	23025	UNC13A	ORPHA:803
HP:0031816	Abnormal oral morphology	899	CCNF	ORPHA:803
HP:0031816	Abnormal oral morphology	400916	CHCHD10	ORPHA:803
HP:0031816	Abnormal oral morphology	10558	SPTLC1	OMIM:620285
HP:0031816	Abnormal oral morphology	79628	SH3TC2	OMIM:601596
HP:0031816	Abnormal oral morphology	79628	SH3TC2	ORPHA:99949
HP:0031816	Abnormal oral morphology	2934	GSN	ORPHA:85448
HP:0031816	Abnormal oral morphology	3508	IGHMBP2	OMIM:616155
HP:0031816	Abnormal oral morphology	10528	NOP56	OMIM:614153
HP:0031816	Abnormal oral morphology	10528	NOP56	ORPHA:276198
HP:0031816	Abnormal oral morphology	22880	MORC2	ORPHA:466768
HP:0031816	Abnormal oral morphology	51010	EXOSC3	OMIM:614678
HP:0031816	Abnormal oral morphology	113278	SLC52A3	OMIM:211530
HP:0031816	Abnormal oral morphology	1528	CYB5A	ORPHA:621
HP:0031816	Abnormal oral morphology	1727	CYB5R3	ORPHA:621
HP:0031816	Abnormal oral morphology	23308	ICOSLG	OMIM:620825
HP:0031816	Abnormal oral morphology	3872	KRT17	OMIM:167210
HP:0031816	Abnormal oral morphology	3872	KRT17	ORPHA:2309
HP:0031816	Abnormal oral morphology	164656	TMPRSS6	ORPHA:209981
HP:0031816	Abnormal oral morphology	3868	KRT16	ORPHA:2309
HP:0031816	Abnormal oral morphology	3854	KRT6B	ORPHA:2309
HP:0031816	Abnormal oral morphology	4194	MDM4	OMIM:618849
HP:0031816	Abnormal oral morphology	7390	UROS	OMIM:263700
HP:0031816	Abnormal oral morphology	7390	UROS	ORPHA:79277
HP:0031816	Abnormal oral morphology	7389	UROD	ORPHA:95159
HP:0031816	Abnormal oral morphology	7512	XPNPEP2	ORPHA:100057
HP:0031816	Abnormal oral morphology	5340	PLG	OMIM:619360
HP:0031816	Abnormal oral morphology	284	ANGPT1	OMIM:619361
HP:0031816	Abnormal oral morphology	26509	MYOF	OMIM:619366
HP:0031816	Abnormal oral morphology	64711	HS3ST6	OMIM:619367
HP:0031816	Abnormal oral morphology	3827	KNG1	OMIM:619363
HP:0031816	Abnormal oral morphology	26227	PHGDH	OMIM:256520
HP:0031816	Abnormal oral morphology	6573	SLC19A1	OMIM:620603
HP:0031816	Abnormal oral morphology	11146	GLMN	ORPHA:83454
HP:0031816	Abnormal oral morphology	1830	DSG3	OMIM:619226
HP:0031816	Abnormal oral morphology	9630	GNA14	ORPHA:1063
HP:0031816	Abnormal oral morphology	59067	IL21	OMIM:615767
HP:0031816	Abnormal oral morphology	54440	SASH3	OMIM:301082
HP:0031816	Abnormal oral morphology	54808	DYM	OMIM:223800
HP:0031816	Abnormal oral morphology	6720	SREBF1	OMIM:158310
HP:0031816	Abnormal oral morphology	3853	KRT6A	OMIM:615726
HP:0031816	Abnormal oral morphology	6868	ADAM17	ORPHA:294023
HP:0031816	Abnormal oral morphology	1956	EGFR	ORPHA:294023
HP:0031816	Abnormal oral morphology	2138	EYA1	ORPHA:52429
HP:0031816	Abnormal oral morphology	6495	SIX1	ORPHA:52429
HP:0031816	Abnormal oral morphology	6608	SMO	OMIM:601707
HP:0031816	Abnormal oral morphology	10220	GDF11	OMIM:619122
HP:0031816	Abnormal oral morphology	55969	RAB5IF	OMIM:616994
HP:0031816	Abnormal oral morphology	3339	HSPG2	ORPHA:800
HP:0031816	Abnormal oral morphology	355	FAS	ORPHA:3261
HP:0031816	Abnormal oral morphology	356	FASLG	ORPHA:3261
HP:0031816	Abnormal oral morphology	843	CASP10	ORPHA:3261
HP:0031816	Abnormal oral morphology	4771	NF2	ORPHA:2495
HP:0031816	Abnormal oral morphology	5155	PDGFB	ORPHA:2495
HP:0031816	Abnormal oral morphology	84231	TRAF7	ORPHA:2495
HP:0031816	Abnormal oral morphology	4609	MYC	ORPHA:543
HP:0031816	Abnormal oral morphology	7486	WRN	ORPHA:902
HP:0031816	Abnormal oral morphology	6794	STK11	ORPHA:2869
HP:0031816	Abnormal oral morphology	4292	MLH1	ORPHA:144
HP:0031816	Abnormal oral morphology	5395	PMS2	ORPHA:144
HP:0031816	Abnormal oral morphology	2956	MSH6	ORPHA:144
HP:0031816	Abnormal oral morphology	5378	PMS1	ORPHA:144
HP:0031816	Abnormal oral morphology	4436	MSH2	ORPHA:144
HP:0031816	Abnormal oral morphology	710	SERPING1	ORPHA:100050
HP:0031816	Abnormal oral morphology	5573	PRKAR1A	ORPHA:1359
HP:0031816	Abnormal oral morphology	50940	PDE11A	ORPHA:1359
HP:0031816	Abnormal oral morphology	215	ABCD1	ORPHA:139399
HP:0031816	Abnormal oral morphology	641	BLM	ORPHA:125
HP:0031816	Abnormal oral morphology	55630	SLC39A4	ORPHA:37
HP:0031816	Abnormal oral morphology	831	CAST	OMIM:616295
HP:0031816	Abnormal oral morphology	55612	FERMT1	ORPHA:2908
HP:0031816	Abnormal oral morphology	130340	AP1S3	ORPHA:247353
HP:0031816	Abnormal oral morphology	26525	IL36RN	ORPHA:247353
HP:0031816	Abnormal oral morphology	10892	MALT1	OMIM:615468
HP:0031816	Abnormal oral morphology	113235	SLC46A1	ORPHA:90045
HP:0031816	Abnormal oral morphology	2215	FCGR3B	ORPHA:536
HP:0031816	Abnormal oral morphology	6775	STAT4	ORPHA:536
HP:0031816	Abnormal oral morphology	3684	ITGAM	ORPHA:536
HP:0031816	Abnormal oral morphology	3586	IL10	ORPHA:536
HP:0031816	Abnormal oral morphology	221895	JAZF1	ORPHA:536
HP:0031816	Abnormal oral morphology	11277	TREX1	ORPHA:536
HP:0031816	Abnormal oral morphology	7292	TNFSF4	ORPHA:536
HP:0031816	Abnormal oral morphology	640	BLK	ORPHA:536
HP:0031816	Abnormal oral morphology	720	C4A	ORPHA:536
HP:0031816	Abnormal oral morphology	55024	BANK1	ORPHA:536
HP:0031816	Abnormal oral morphology	3500	IGHG1	ORPHA:536
HP:0031816	Abnormal oral morphology	3654	IRAK1	ORPHA:536
HP:0031816	Abnormal oral morphology	1380	CR2	ORPHA:536
HP:0031816	Abnormal oral morphology	5133	PDCD1	ORPHA:536
HP:0031816	Abnormal oral morphology	2113	ETS1	ORPHA:536
HP:0031816	Abnormal oral morphology	2213	FCGR2B	ORPHA:536
HP:0031816	Abnormal oral morphology	10318	TNIP1	ORPHA:536
HP:0031816	Abnormal oral morphology	7332	UBE2L3	ORPHA:536
HP:0031816	Abnormal oral morphology	79932	KIAA0319L	ORPHA:536
HP:0031816	Abnormal oral morphology	3663	IRF5	ORPHA:536
HP:0031816	Abnormal oral morphology	721	C4B	ORPHA:536
HP:0031816	Abnormal oral morphology	1773	DNASE1	ORPHA:536
HP:0031816	Abnormal oral morphology	51284	TLR7	ORPHA:536
HP:0031816	Abnormal oral morphology	6696	SPP1	ORPHA:536
HP:0031816	Abnormal oral morphology	54899	PXK	ORPHA:536
HP:0031816	Abnormal oral morphology	7128	TNFAIP3	ORPHA:536
HP:0031816	Abnormal oral morphology	3691	ITGB4	OMIM:226730
HP:0031816	Abnormal oral morphology	3691	ITGB4	ORPHA:158684
HP:0031816	Abnormal oral morphology	3691	ITGB4	ORPHA:79402
HP:0031816	Abnormal oral morphology	3691	ITGB4	ORPHA:79403
HP:0031816	Abnormal oral morphology	3655	ITGA6	OMIM:619817
HP:0031816	Abnormal oral morphology	3655	ITGA6	ORPHA:79403
HP:0031816	Abnormal oral morphology	1308	COL17A1	ORPHA:79402
HP:0031816	Abnormal oral morphology	1308	COL17A1	ORPHA:79406
HP:0031816	Abnormal oral morphology	2737	GLI3	ORPHA:672
HP:0031816	Abnormal oral morphology	2294	FOXF1	OMIM:265380
HP:0031816	Abnormal oral morphology	6909	TBX2	OMIM:618223
HP:0031816	Abnormal oral morphology	23767	FLRT3	OMIM:615271
HP:0031816	Abnormal oral morphology	56006	SMG9	OMIM:616920
HP:0031816	Abnormal oral morphology	9231	DLG5	OMIM:620703
HP:0031816	Abnormal oral morphology	1857	DVL3	OMIM:616894
HP:0031816	Abnormal oral morphology	90416	CCDC32	OMIM:619123
HP:0031816	Abnormal oral morphology	473	RERE	OMIM:616975
HP:0031816	Abnormal oral morphology	100506658	OCLN	OMIM:251290
HP:0031816	Abnormal oral morphology	23007	PLCH1	OMIM:619895
HP:0031816	Abnormal oral morphology	4488	MSX2	ORPHA:60015
HP:0031816	Abnormal oral morphology	10848	PPP1R13L	OMIM:620519
HP:0031816	Abnormal oral morphology	83871	RAB34	OMIM:620718
HP:0031816	Abnormal oral morphology	113189	CHST14	ORPHA:2953
HP:0031816	Abnormal oral morphology	29940	DSE	ORPHA:2953
HP:0031816	Abnormal oral morphology	6138	RPL15	ORPHA:124
HP:0031816	Abnormal oral morphology	6224	RPS20	ORPHA:124
HP:0031816	Abnormal oral morphology	6165	RPL35A	ORPHA:124
HP:0031816	Abnormal oral morphology	6132	RPL8	ORPHA:124
HP:0031816	Abnormal oral morphology	6223	RPS19	ORPHA:124
HP:0031816	Abnormal oral morphology	6232	RPS27	ORPHA:124
HP:0031816	Abnormal oral morphology	55027	HEATR3	ORPHA:124
HP:0031816	Abnormal oral morphology	6160	RPL31	ORPHA:124
HP:0031816	Abnormal oral morphology	6201	RPS7	ORPHA:124
HP:0031816	Abnormal oral morphology	6155	RPL27	ORPHA:124
HP:0031816	Abnormal oral morphology	6234	RPS28	ORPHA:124
HP:0031816	Abnormal oral morphology	6135	RPL11	ORPHA:124
HP:0031816	Abnormal oral morphology	6229	RPS24	ORPHA:124
HP:0031816	Abnormal oral morphology	6125	RPL5	ORPHA:124
HP:0031816	Abnormal oral morphology	6204	RPS10	ORPHA:124
HP:0031816	Abnormal oral morphology	2623	GATA1	ORPHA:124
HP:0031816	Abnormal oral morphology	6133	RPL9	ORPHA:124
HP:0031816	Abnormal oral morphology	6231	RPS26	ORPHA:124
HP:0031816	Abnormal oral morphology	11224	RPL35	ORPHA:124
HP:0031816	Abnormal oral morphology	6218	RPS17	ORPHA:124
HP:0031816	Abnormal oral morphology	6154	RPL26	ORPHA:124
HP:0031816	Abnormal oral morphology	6210	RPS15A	ORPHA:124
HP:0031816	Abnormal oral morphology	90121	TSR2	ORPHA:124
HP:0031816	Abnormal oral morphology	6141	RPL18	ORPHA:124
HP:0031816	Abnormal oral morphology	6235	RPS29	ORPHA:124
HP:0031816	Abnormal oral morphology	51816	ADA2	ORPHA:124
HP:0031816	Abnormal oral morphology	171023	ASXL1	ORPHA:97297
HP:0031816	Abnormal oral morphology	23347	SMCHD1	OMIM:603457
HP:0031816	Abnormal oral morphology	1500	CTNND1	OMIM:617681
HP:0031816	Abnormal oral morphology	8295	TRRAP	OMIM:618454
HP:0031816	Abnormal oral morphology	26173	INTS1	OMIM:618571
HP:0031816	Abnormal oral morphology	4281	MID1	ORPHA:2745
HP:0031816	Abnormal oral morphology	27152	INTU	OMIM:617925
HP:0031816	Abnormal oral morphology	27145	FILIP1	OMIM:620775
HP:0031816	Abnormal oral morphology	26005	C2CD3	OMIM:615948
HP:0031816	Abnormal oral morphology	55081	IFT57	OMIM:617927
HP:0031816	Abnormal oral morphology	4524	MTHFR	ORPHA:563609
HP:0031816	Abnormal oral morphology	57216	VANGL2	ORPHA:563609
HP:0031816	Abnormal oral morphology	81788	NUAK2	ORPHA:563609
HP:0031816	Abnormal oral morphology	344167	FOXI3	OMIM:620444
HP:0031817	Decreased circulating parathyroid hormone level	846	CASR	OMIM:601198
HP:0031817	Decreased circulating parathyroid hormone level	5741	PTH	OMIM:146200
HP:0031817	Decreased circulating parathyroid hormone level	1591	CYP24A1	OMIM:143880
HP:0031817	Decreased circulating parathyroid hormone level	6899	TBX1	OMIM:188400
HP:0031817	Decreased circulating parathyroid hormone level	54809	SAMD9	OMIM:610455
HP:0031817	Decreased circulating parathyroid hormone level	9247	GCM2	OMIM:618883
HP:0031817	Decreased circulating parathyroid hormone level	142680	SLC34A3	ORPHA:157215
HP:0031817	Decreased circulating parathyroid hormone level	142680	SLC34A3	OMIM:241530
HP:0031817	Decreased circulating parathyroid hormone level	6569	SLC34A1	ORPHA:157215
HP:0031817	Decreased circulating parathyroid hormone level	326	AIRE	OMIM:240300
HP:0031817	Decreased circulating parathyroid hormone level	6905	TBCE	OMIM:241410
HP:0031818	Abnormal waist to hip ratio	6934	TCF7L2	OMIM:125853
HP:0031818	Abnormal waist to hip ratio	5078	PAX4	OMIM:125853
HP:0031818	Abnormal waist to hip ratio	3172	HNF4A	OMIM:125853
HP:0031818	Abnormal waist to hip ratio	3569	IL6	OMIM:125853
HP:0031818	Abnormal waist to hip ratio	3990	LIPC	OMIM:125853
HP:0031818	Abnormal waist to hip ratio	6927	HNF1A	OMIM:125853
HP:0031818	Abnormal waist to hip ratio	4760	NEUROD1	OMIM:125853
HP:0031818	Abnormal waist to hip ratio	5506	PPP1R3A	OMIM:125853
HP:0031818	Abnormal waist to hip ratio	169026	SLC30A8	OMIM:125853
HP:0031818	Abnormal waist to hip ratio	2820	GPD2	OMIM:125853
HP:0031818	Abnormal waist to hip ratio	6928	HNF1B	OMIM:125853
HP:0031818	Abnormal waist to hip ratio	6514	SLC2A2	OMIM:125853
HP:0031818	Abnormal waist to hip ratio	5468	PPARG	OMIM:125853
HP:0031818	Abnormal waist to hip ratio	5468	PPARG	OMIM:601665
HP:0031818	Abnormal waist to hip ratio	5167	ENPP1	OMIM:125853
HP:0031818	Abnormal waist to hip ratio	5167	ENPP1	OMIM:601665
HP:0031818	Abnormal waist to hip ratio	5770	PTPN1	OMIM:125853
HP:0031818	Abnormal waist to hip ratio	8660	IRS2	OMIM:125853
HP:0031818	Abnormal waist to hip ratio	3159	HMGA1	OMIM:125853
HP:0031818	Abnormal waist to hip ratio	6833	ABCC8	OMIM:125853
HP:0031818	Abnormal waist to hip ratio	3667	IRS1	OMIM:125853
HP:0031818	Abnormal waist to hip ratio	9479	MAPK8IP1	OMIM:125853
HP:0031818	Abnormal waist to hip ratio	208	AKT2	OMIM:125853
HP:0031818	Abnormal waist to hip ratio	4544	MTNR1B	OMIM:125853
HP:0031818	Abnormal waist to hip ratio	56729	RETN	OMIM:125853
HP:0031818	Abnormal waist to hip ratio	7466	WFS1	OMIM:125853
HP:0031818	Abnormal waist to hip ratio	3651	PDX1	OMIM:125853
HP:0031818	Abnormal waist to hip ratio	2645	GCK	OMIM:125853
HP:0031818	Abnormal waist to hip ratio	10644	IGF2BP2	OMIM:125853
HP:0031818	Abnormal waist to hip ratio	155	ADRB3	OMIM:601665
HP:0031818	Abnormal waist to hip ratio	7352	UCP3	OMIM:601665
HP:0031818	Abnormal waist to hip ratio	5443	POMC	OMIM:601665
HP:0031818	Abnormal waist to hip ratio	8431	NR0B2	OMIM:601665
HP:0031818	Abnormal waist to hip ratio	9607	CARTPT	OMIM:601665
HP:0031818	Abnormal waist to hip ratio	51738	GHRL	OMIM:601665
HP:0031818	Abnormal waist to hip ratio	9672	SDC3	OMIM:601665
HP:0031818	Abnormal waist to hip ratio	181	AGRP	OMIM:601665
HP:0031819	Increased waist to hip ratio	6934	TCF7L2	OMIM:125853
HP:0031819	Increased waist to hip ratio	5078	PAX4	OMIM:125853
HP:0031819	Increased waist to hip ratio	3172	HNF4A	OMIM:125853
HP:0031819	Increased waist to hip ratio	3569	IL6	OMIM:125853
HP:0031819	Increased waist to hip ratio	3990	LIPC	OMIM:125853
HP:0031819	Increased waist to hip ratio	6927	HNF1A	OMIM:125853
HP:0031819	Increased waist to hip ratio	4760	NEUROD1	OMIM:125853
HP:0031819	Increased waist to hip ratio	5506	PPP1R3A	OMIM:125853
HP:0031819	Increased waist to hip ratio	169026	SLC30A8	OMIM:125853
HP:0031819	Increased waist to hip ratio	2820	GPD2	OMIM:125853
HP:0031819	Increased waist to hip ratio	6928	HNF1B	OMIM:125853
HP:0031819	Increased waist to hip ratio	6514	SLC2A2	OMIM:125853
HP:0031819	Increased waist to hip ratio	5468	PPARG	OMIM:125853
HP:0031819	Increased waist to hip ratio	5468	PPARG	OMIM:601665
HP:0031819	Increased waist to hip ratio	5167	ENPP1	OMIM:125853
HP:0031819	Increased waist to hip ratio	5167	ENPP1	OMIM:601665
HP:0031819	Increased waist to hip ratio	5770	PTPN1	OMIM:125853
HP:0031819	Increased waist to hip ratio	8660	IRS2	OMIM:125853
HP:0031819	Increased waist to hip ratio	3159	HMGA1	OMIM:125853
HP:0031819	Increased waist to hip ratio	6833	ABCC8	OMIM:125853
HP:0031819	Increased waist to hip ratio	3667	IRS1	OMIM:125853
HP:0031819	Increased waist to hip ratio	9479	MAPK8IP1	OMIM:125853
HP:0031819	Increased waist to hip ratio	208	AKT2	OMIM:125853
HP:0031819	Increased waist to hip ratio	4544	MTNR1B	OMIM:125853
HP:0031819	Increased waist to hip ratio	56729	RETN	OMIM:125853
HP:0031819	Increased waist to hip ratio	7466	WFS1	OMIM:125853
HP:0031819	Increased waist to hip ratio	3651	PDX1	OMIM:125853
HP:0031819	Increased waist to hip ratio	2645	GCK	OMIM:125853
HP:0031819	Increased waist to hip ratio	10644	IGF2BP2	OMIM:125853
HP:0031819	Increased waist to hip ratio	155	ADRB3	OMIM:601665
HP:0031819	Increased waist to hip ratio	7352	UCP3	OMIM:601665
HP:0031819	Increased waist to hip ratio	5443	POMC	OMIM:601665
HP:0031819	Increased waist to hip ratio	8431	NR0B2	OMIM:601665
HP:0031819	Increased waist to hip ratio	9607	CARTPT	OMIM:601665
HP:0031819	Increased waist to hip ratio	51738	GHRL	OMIM:601665
HP:0031819	Increased waist to hip ratio	9672	SDC3	OMIM:601665
HP:0031819	Increased waist to hip ratio	181	AGRP	OMIM:601665
HP:0008940	Generalized lymphadenopathy	3604	TNFRSF9	OMIM:620282
HP:0008940	Generalized lymphadenopathy	3123	HLA-DRB1	OMIM:181000
HP:0008940	Generalized lymphadenopathy	5580	PRKCD	OMIM:615559
HP:0008940	Generalized lymphadenopathy	5880	RAC2	OMIM:618986
HP:0008940	Generalized lymphadenopathy	3459	IFNGR1	OMIM:615978
HP:0008940	Generalized lymphadenopathy	64135	IFIH1	OMIM:615846
HP:0008940	Generalized lymphadenopathy	987	LRBA	OMIM:614700
HP:0008940	Generalized lymphadenopathy	4773	NFATC2	OMIM:620232
HP:0008940	Generalized lymphadenopathy	165918	RNF168	ORPHA:420741
HP:0008940	Generalized lymphadenopathy	64421	DCLRE1C	OMIM:602450
HP:0008942	Acute rhabdomyolysis	23175	LPIN1	OMIM:268200
HP:0008942	Acute rhabdomyolysis	9150	CTDP1	OMIM:604168
HP:0008942	Acute rhabdomyolysis	9150	CTDP1	ORPHA:48431
HP:0008942	Acute rhabdomyolysis	128989	TANGO2	OMIM:616878
HP:0008942	Acute rhabdomyolysis	128989	TANGO2	ORPHA:480864
HP:0008942	Acute rhabdomyolysis	779	CACNA1S	ORPHA:423
HP:0008942	Acute rhabdomyolysis	6261	RYR1	ORPHA:423
HP:0007126	Proximal amyotrophy	6444	SGCD	OMIM:601287
HP:0007126	Proximal amyotrophy	84196	USP48	ORPHA:96253
HP:0007126	Proximal amyotrophy	7157	TP53	ORPHA:96253
HP:0007126	Proximal amyotrophy	9101	USP8	ORPHA:96253
HP:0007126	Proximal amyotrophy	64072	CDH23	ORPHA:96253
HP:0007126	Proximal amyotrophy	2908	NR3C1	ORPHA:96253
HP:0007126	Proximal amyotrophy	673	BRAF	ORPHA:96253
HP:0007126	Proximal amyotrophy	546	ATRX	ORPHA:96253
HP:0007126	Proximal amyotrophy	79147	FKRP	OMIM:606612
HP:0007126	Proximal amyotrophy	79147	FKRP	ORPHA:370980
HP:0007126	Proximal amyotrophy	127833	SYT2	OMIM:616040
HP:0007126	Proximal amyotrophy	2521	FUS	OMIM:608030
HP:0007126	Proximal amyotrophy	79188	TMEM43	OMIM:614302
HP:0007126	Proximal amyotrophy	22954	TRIM32	OMIM:254110
HP:0007126	Proximal amyotrophy	2673	GFPT1	OMIM:610542
HP:0007126	Proximal amyotrophy	6606	SMN1	OMIM:271150
HP:0007126	Proximal amyotrophy	6606	SMN1	OMIM:253300
HP:0007126	Proximal amyotrophy	825	CAPN3	OMIM:618129
HP:0007126	Proximal amyotrophy	825	CAPN3	OMIM:253600
HP:0007126	Proximal amyotrophy	4625	MYH7	OMIM:255160
HP:0007126	Proximal amyotrophy	5190	PEX6	ORPHA:95433
HP:0007126	Proximal amyotrophy	4556	MT-TE	ORPHA:2596
HP:0007126	Proximal amyotrophy	9990	SLC12A6	OMIM:620068
HP:0007126	Proximal amyotrophy	7138	TNNT1	ORPHA:98902
HP:0007126	Proximal amyotrophy	7138	TNNT1	OMIM:605355
HP:0007126	Proximal amyotrophy	29954	POMT2	ORPHA:206559
HP:0007126	Proximal amyotrophy	4000	LMNA	OMIM:181350
HP:0007126	Proximal amyotrophy	4000	LMNA	ORPHA:98856
HP:0007126	Proximal amyotrophy	9217	VAPB	ORPHA:209335
HP:0007126	Proximal amyotrophy	9217	VAPB	OMIM:608627
HP:0007126	Proximal amyotrophy	9217	VAPB	OMIM:182980
HP:0007126	Proximal amyotrophy	7148	TNXB	OMIM:606408
HP:0007126	Proximal amyotrophy	64419	MTMR14	OMIM:160150
HP:0007126	Proximal amyotrophy	1785	DNM2	OMIM:160150
HP:0007126	Proximal amyotrophy	92667	MGME1	OMIM:615084
HP:0007126	Proximal amyotrophy	51763	INPP5K	OMIM:617404
HP:0007126	Proximal amyotrophy	79798	ARMC5	ORPHA:189427
HP:0007126	Proximal amyotrophy	23028	KDM1A	ORPHA:189427
HP:0007126	Proximal amyotrophy	2778	GNAS	ORPHA:189427
HP:0007126	Proximal amyotrophy	8291	DYSF	ORPHA:45448
HP:0007126	Proximal amyotrophy	2218	FKTN	ORPHA:370980
HP:0007126	Proximal amyotrophy	729920	CRPPA	ORPHA:370980
HP:0007126	Proximal amyotrophy	10585	POMT1	ORPHA:370980
HP:0007126	Proximal amyotrophy	23224	SYNE2	OMIM:612999
HP:0007126	Proximal amyotrophy	10342	TFG	OMIM:604484
HP:0007126	Proximal amyotrophy	6443	SGCB	OMIM:604286
HP:0007126	Proximal amyotrophy	23345	SYNE1	OMIM:612998
HP:0007126	Proximal amyotrophy	6786	STIM1	OMIM:160565
HP:0007126	Proximal amyotrophy	285489	DOK7	OMIM:254300
HP:0007126	Proximal amyotrophy	59341	TRPV4	OMIM:606071
HP:0007126	Proximal amyotrophy	22880	MORC2	ORPHA:466768
HP:0007126	Proximal amyotrophy	79903	NAA60	OMIM:620786
HP:0007126	Proximal amyotrophy	8557	TCAP	OMIM:601954
HP:0007126	Proximal amyotrophy	9987	HNRNPDL	OMIM:609115
HP:0007126	Proximal amyotrophy	2273	FHL1	ORPHA:98863
HP:0007126	Proximal amyotrophy	2010	EMD	ORPHA:98863
HP:0007126	Proximal amyotrophy	65055	REEP1	ORPHA:101011
HP:0007126	Proximal amyotrophy	1778	DYNC1H1	OMIM:158600
HP:0007126	Proximal amyotrophy	80208	SPG11	OMIM:616668
HP:0007126	Proximal amyotrophy	203547	VMA21	OMIM:310440
HP:0007126	Proximal amyotrophy	4747	NEFL	ORPHA:101085
HP:0007126	Proximal amyotrophy	6607	SMN2	OMIM:253400
HP:0007126	Proximal amyotrophy	122622	ADSS1	ORPHA:482601
HP:0007126	Proximal amyotrophy	203859	ANO5	OMIM:613319
HP:0007126	Proximal amyotrophy	203859	ANO5	OMIM:611307
HP:0007126	Proximal amyotrophy	203859	ANO5	ORPHA:206549
HP:0007126	Proximal amyotrophy	10558	SPTLC1	OMIM:620285
HP:0007126	Proximal amyotrophy	6261	RYR1	ORPHA:597
HP:0007126	Proximal amyotrophy	6261	RYR1	ORPHA:424107
HP:0007126	Proximal amyotrophy	6261	RYR1	ORPHA:98905
HP:0008944	Distal lower limb amyotrophy	59341	TRPV4	OMIM:600175
HP:0008944	Distal lower limb amyotrophy	59341	TRPV4	OMIM:606071
HP:0008944	Distal lower limb amyotrophy	51062	ATL1	ORPHA:100984
HP:0008944	Distal lower limb amyotrophy	51062	ATL1	OMIM:613708
HP:0008944	Distal lower limb amyotrophy	51062	ATL1	OMIM:182600
HP:0008944	Distal lower limb amyotrophy	9997	SCO2	OMIM:604377
HP:0008944	Distal lower limb amyotrophy	7528	YY1	ORPHA:506358
HP:0008944	Distal lower limb amyotrophy	23299	BICD2	ORPHA:363454
HP:0008944	Distal lower limb amyotrophy	8450	CUL4B	OMIM:300354
HP:0008944	Distal lower limb amyotrophy	23769	FLRT1	ORPHA:320406
HP:0008944	Distal lower limb amyotrophy	64837	KLC2	ORPHA:320406
HP:0008944	Distal lower limb amyotrophy	4099	MAG	OMIM:616680
HP:0008944	Distal lower limb amyotrophy	4099	MAG	ORPHA:459056
HP:0008944	Distal lower limb amyotrophy	3094	HINT1	ORPHA:324442
HP:0008944	Distal lower limb amyotrophy	2318	FLNC	OMIM:614065
HP:0008944	Distal lower limb amyotrophy	26580	BSCL2	OMIM:619112
HP:0008944	Distal lower limb amyotrophy	8988	HSPB3	OMIM:613376
HP:0008944	Distal lower limb amyotrophy	4593	MUSK	OMIM:616325
HP:0008944	Distal lower limb amyotrophy	4311	MME	OMIM:617017
HP:0008944	Distal lower limb amyotrophy	57863	CADM3	OMIM:619519
HP:0008944	Distal lower limb amyotrophy	391356	PTRHD1	OMIM:620747
HP:0008944	Distal lower limb amyotrophy	5165	PDK3	OMIM:300905
HP:0008944	Distal lower limb amyotrophy	5165	PDK3	ORPHA:352675
HP:0008944	Distal lower limb amyotrophy	3315	HSPB1	OMIM:606595
HP:0008944	Distal lower limb amyotrophy	3315	HSPB1	ORPHA:99940
HP:0008944	Distal lower limb amyotrophy	4287	ATXN3	ORPHA:276244
HP:0008944	Distal lower limb amyotrophy	4287	ATXN3	ORPHA:276241
HP:0008944	Distal lower limb amyotrophy	4287	ATXN3	ORPHA:276238
HP:0008944	Distal lower limb amyotrophy	2705	GJB1	ORPHA:101075
HP:0008944	Distal lower limb amyotrophy	2705	GJB1	OMIM:302800
HP:0008944	Distal lower limb amyotrophy	2705	GJB1	ORPHA:1175
HP:0008944	Distal lower limb amyotrophy	9990	SLC12A6	OMIM:620068
HP:0008944	Distal lower limb amyotrophy	4000	LMNA	OMIM:181350
HP:0008944	Distal lower limb amyotrophy	7879	RAB7A	OMIM:600882
HP:0008944	Distal lower limb amyotrophy	10516	FBLN5	OMIM:619764
HP:0008944	Distal lower limb amyotrophy	22880	MORC2	ORPHA:466768
HP:0008944	Distal lower limb amyotrophy	10342	TFG	ORPHA:431329
HP:0008944	Distal lower limb amyotrophy	8242	KDM5C	OMIM:300534
HP:0008944	Distal lower limb amyotrophy	3300	DNAJB2	OMIM:614881
HP:0008944	Distal lower limb amyotrophy	57679	ALS2	OMIM:205100
HP:0008944	Distal lower limb amyotrophy	7170	TPM3	OMIM:609284
HP:0008944	Distal lower limb amyotrophy	6709	SPTAN1	OMIM:620528
HP:0008944	Distal lower limb amyotrophy	4358	MPV17	OMIM:256810
HP:0008944	Distal lower limb amyotrophy	80208	SPG11	OMIM:616668
HP:0008944	Distal lower limb amyotrophy	122622	ADSS1	ORPHA:482601
HP:0008944	Distal lower limb amyotrophy	4556	MT-TE	ORPHA:2596
HP:0008944	Distal lower limb amyotrophy	3098	HK1	OMIM:605285
HP:0008944	Distal lower limb amyotrophy	126129	CPT1C	ORPHA:444099
HP:0008944	Distal lower limb amyotrophy	3798	KIF5A	ORPHA:100991
HP:0008944	Distal lower limb amyotrophy	59345	GNB4	OMIM:615185
HP:0008944	Distal lower limb amyotrophy	8557	TCAP	OMIM:601954
HP:0008944	Distal lower limb amyotrophy	1291	COL6A1	OMIM:158810
HP:0008944	Distal lower limb amyotrophy	64423	INF2	OMIM:614455
HP:0008944	Distal lower limb amyotrophy	16	AARS1	OMIM:613287
HP:0008944	Distal lower limb amyotrophy	7453	WARS1	OMIM:617721
HP:0008944	Distal lower limb amyotrophy	9131	AIFM1	OMIM:310490
HP:0008944	Distal lower limb amyotrophy	2583	B4GALNT1	OMIM:609195
HP:0008944	Distal lower limb amyotrophy	5376	PMP22	ORPHA:90658
HP:0008944	Distal lower limb amyotrophy	8291	DYSF	ORPHA:45448
HP:0008944	Distal lower limb amyotrophy	3852	KRT5	ORPHA:79396
HP:0008944	Distal lower limb amyotrophy	3861	KRT14	ORPHA:79396
HP:0008944	Distal lower limb amyotrophy	4747	NEFL	ORPHA:101085
HP:0008944	Distal lower limb amyotrophy	9927	MFN2	ORPHA:99947
HP:0008944	Distal lower limb amyotrophy	121512	FGD4	OMIM:609311
HP:0008944	Distal lower limb amyotrophy	353116	RILPL1	ORPHA:98897
HP:0008944	Distal lower limb amyotrophy	10755	GIPC1	ORPHA:98897
HP:0008944	Distal lower limb amyotrophy	29967	LRP12	ORPHA:98897
HP:0008944	Distal lower limb amyotrophy	100996717	NOTCH2NLC	ORPHA:98897
HP:0008944	Distal lower limb amyotrophy	6261	RYR1	ORPHA:98905
HP:0008944	Distal lower limb amyotrophy	7273	TTN	OMIM:600334
HP:0008944	Distal lower limb amyotrophy	91574	MTRFR	OMIM:615035
HP:0008944	Distal lower limb amyotrophy	4625	MYH7	OMIM:160500
HP:0008945	Loss of ability to walk in early childhood	7084	TK2	OMIM:609560
HP:0008945	Loss of ability to walk in early childhood	51218	GLRX5	ORPHA:401866
HP:0008945	Loss of ability to walk in early childhood	8803	SUCLA2	OMIM:612073
HP:0008946	Pelvic girdle amyotrophy	825	CAPN3	ORPHA:267
HP:0008946	Pelvic girdle amyotrophy	7415	VCP	OMIM:167320
HP:0008946	Pelvic girdle amyotrophy	6606	SMN1	OMIM:253400
HP:0008946	Pelvic girdle amyotrophy	6607	SMN2	OMIM:253400
HP:0008946	Pelvic girdle amyotrophy	2992	GYG1	OMIM:616199
HP:0008948	Proximal upper limb amyotrophy	59341	TRPV4	OMIM:606071
HP:0008948	Proximal upper limb amyotrophy	22880	MORC2	ORPHA:466768
HP:0008948	Proximal upper limb amyotrophy	64419	MTMR14	OMIM:160150
HP:0008948	Proximal upper limb amyotrophy	1785	DNM2	OMIM:160150
HP:0008948	Proximal upper limb amyotrophy	79903	NAA60	OMIM:620786
HP:0008948	Proximal upper limb amyotrophy	4000	LMNA	OMIM:613205
HP:0008948	Proximal upper limb amyotrophy	4000	LMNA	ORPHA:98855
HP:0008948	Proximal upper limb amyotrophy	4000	LMNA	ORPHA:98853
HP:0008948	Proximal upper limb amyotrophy	6444	SGCD	ORPHA:219
HP:0008948	Proximal upper limb amyotrophy	8557	TCAP	OMIM:601954
HP:0008948	Proximal upper limb amyotrophy	9987	HNRNPDL	OMIM:609115
HP:0008948	Proximal upper limb amyotrophy	2273	FHL1	ORPHA:98863
HP:0008948	Proximal upper limb amyotrophy	2010	EMD	ORPHA:98863
HP:0008948	Proximal upper limb amyotrophy	79188	TMEM43	ORPHA:98853
HP:0008948	Proximal upper limb amyotrophy	23345	SYNE1	ORPHA:98853
HP:0008948	Proximal upper limb amyotrophy	23224	SYNE2	ORPHA:98853
HP:0031825	Freezing of gait	4137	MAPT	ORPHA:240094
HP:0031825	Freezing of gait	54832	VPS13C	OMIM:616840
HP:0031825	Freezing of gait	391356	PTRHD1	OMIM:620747
HP:0031825	Freezing of gait	4929	NR4A2	OMIM:619911
HP:0031826	Abnormal reflex	8518	ELP1	ORPHA:1764
HP:0031826	Abnormal reflex	8518	ELP1	OMIM:223900
HP:0031826	Abnormal reflex	3145	HMBS	OMIM:620704
HP:0031826	Abnormal reflex	19	ABCA1	OMIM:205400
HP:0031826	Abnormal reflex	65082	VPS33A	OMIM:617303
HP:0031826	Abnormal reflex	65082	VPS33A	ORPHA:505248
HP:0031826	Abnormal reflex	84466	MEGF10	OMIM:614399
HP:0031826	Abnormal reflex	3508	IGHMBP2	OMIM:604320
HP:0031826	Abnormal reflex	3508	IGHMBP2	OMIM:616155
HP:0031826	Abnormal reflex	55768	NGLY1	ORPHA:404454
HP:0031826	Abnormal reflex	55768	NGLY1	OMIM:615273
HP:0031826	Abnormal reflex	81846	SBF2	OMIM:604563
HP:0031826	Abnormal reflex	79158	GNPTAB	OMIM:252500
HP:0031826	Abnormal reflex	57231	SNX14	ORPHA:397709
HP:0031826	Abnormal reflex	57231	SNX14	OMIM:616354
HP:0031826	Abnormal reflex	7253	TSHR	ORPHA:90673
HP:0031826	Abnormal reflex	4625	MYH7	OMIM:160500
HP:0031826	Abnormal reflex	7252	TSHB	ORPHA:90674
HP:0031826	Abnormal reflex	10559	SLC35A1	OMIM:603585
HP:0031826	Abnormal reflex	60482	SLC5A7	OMIM:158580
HP:0031826	Abnormal reflex	60482	SLC5A7	ORPHA:98914
HP:0031826	Abnormal reflex	4358	MPV17	OMIM:618400
HP:0031826	Abnormal reflex	4358	MPV17	OMIM:256810
HP:0031826	Abnormal reflex	55154	MSTO1	OMIM:617675
HP:0031826	Abnormal reflex	55154	MSTO1	ORPHA:502423
HP:0031826	Abnormal reflex	9698	PUM1	OMIM:620719
HP:0031826	Abnormal reflex	2903	GRIN2A	ORPHA:289266
HP:0031826	Abnormal reflex	54872	PIGG	ORPHA:488635
HP:0031826	Abnormal reflex	54872	PIGG	OMIM:616917
HP:0031826	Abnormal reflex	55526	DHTKD1	OMIM:615025
HP:0031826	Abnormal reflex	54840	APTX	OMIM:208920
HP:0031826	Abnormal reflex	2313	FLI1	ORPHA:370348
HP:0031826	Abnormal reflex	5376	PMP22	ORPHA:101081
HP:0031826	Abnormal reflex	5376	PMP22	ORPHA:640
HP:0031826	Abnormal reflex	5376	PMP22	OMIM:118300
HP:0031826	Abnormal reflex	5376	PMP22	OMIM:180800
HP:0031826	Abnormal reflex	5376	PMP22	OMIM:118220
HP:0031826	Abnormal reflex	5376	PMP22	OMIM:145900
HP:0031826	Abnormal reflex	5376	PMP22	OMIM:162500
HP:0031826	Abnormal reflex	5376	PMP22	ORPHA:98916
HP:0031826	Abnormal reflex	59341	TRPV4	OMIM:600175
HP:0031826	Abnormal reflex	59341	TRPV4	OMIM:181405
HP:0031826	Abnormal reflex	59341	TRPV4	OMIM:606071
HP:0031826	Abnormal reflex	1187	CLCNKA	OMIM:613090
HP:0031826	Abnormal reflex	1188	CLCNKB	OMIM:613090
HP:0031826	Abnormal reflex	55773	TBC1D23	OMIM:617695
HP:0031826	Abnormal reflex	2318	FLNC	OMIM:614065
HP:0031826	Abnormal reflex	55699	IARS2	OMIM:616007
HP:0031826	Abnormal reflex	59335	PRDM12	OMIM:616488
HP:0031826	Abnormal reflex	4191	MDH2	OMIM:617339
HP:0031826	Abnormal reflex	2556	GABRA3	ORPHA:79102
HP:0031826	Abnormal reflex	6606	SMN1	OMIM:253400
HP:0031826	Abnormal reflex	6607	SMN2	OMIM:253400
HP:0031826	Abnormal reflex	1822	ATN1	ORPHA:101
HP:0031826	Abnormal reflex	4311	MME	ORPHA:497764
HP:0031826	Abnormal reflex	4311	MME	OMIM:617018
HP:0031826	Abnormal reflex	4311	MME	OMIM:617017
HP:0031826	Abnormal reflex	4669	NAGLU	OMIM:616491
HP:0031826	Abnormal reflex	9711	RUBCN	ORPHA:404499
HP:0031826	Abnormal reflex	91949	COG7	ORPHA:79333
HP:0031826	Abnormal reflex	91949	COG7	OMIM:608779
HP:0031826	Abnormal reflex	38	ACAT1	ORPHA:134
HP:0031826	Abnormal reflex	51651	PTRH2	OMIM:616263
HP:0031826	Abnormal reflex	339855	KY	OMIM:617114
HP:0031826	Abnormal reflex	6261	RYR1	ORPHA:324581
HP:0031826	Abnormal reflex	6261	RYR1	OMIM:117000
HP:0031826	Abnormal reflex	404672	GTF2H5	ORPHA:33364
HP:0031826	Abnormal reflex	833	CARS1	ORPHA:33364
HP:0031826	Abnormal reflex	7737	RNF113A	ORPHA:33364
HP:0031826	Abnormal reflex	136647	MPLKIP	ORPHA:33364
HP:0031826	Abnormal reflex	6897	TARS1	ORPHA:33364
HP:0031826	Abnormal reflex	2961	GTF2E2	ORPHA:33364
HP:0031826	Abnormal reflex	3339	HSPG2	OMIM:255800
HP:0031826	Abnormal reflex	3339	HSPG2	ORPHA:800
HP:0031826	Abnormal reflex	2778	GNAS	ORPHA:79443
HP:0031826	Abnormal reflex	2778	GNAS	ORPHA:79444
HP:0031826	Abnormal reflex	2778	GNAS	ORPHA:94089
HP:0031826	Abnormal reflex	367	AR	ORPHA:481
HP:0031826	Abnormal reflex	367	AR	OMIM:313200
HP:0031826	Abnormal reflex	59345	GNB4	OMIM:615185
HP:0031826	Abnormal reflex	1337	COX6A1	OMIM:616039
HP:0031826	Abnormal reflex	51013	EXOSC1	OMIM:619304
HP:0031826	Abnormal reflex	5910	RAP1GDS1	OMIM:620655
HP:0031826	Abnormal reflex	8803	SUCLA2	ORPHA:1933
HP:0031826	Abnormal reflex	8803	SUCLA2	OMIM:612073
HP:0031826	Abnormal reflex	291	SLC25A4	ORPHA:254892
HP:0031826	Abnormal reflex	291	SLC25A4	OMIM:617184
HP:0031826	Abnormal reflex	5428	POLG	ORPHA:254892
HP:0031826	Abnormal reflex	5428	POLG	OMIM:258450
HP:0031826	Abnormal reflex	5428	POLG	ORPHA:254886
HP:0031826	Abnormal reflex	5428	POLG	OMIM:157640
HP:0031826	Abnormal reflex	5428	POLG	OMIM:607459
HP:0031826	Abnormal reflex	5428	POLG	ORPHA:70595
HP:0031826	Abnormal reflex	11232	POLG2	ORPHA:254892
HP:0031826	Abnormal reflex	9488	PIGB	OMIM:618580
HP:0031826	Abnormal reflex	3155	HMGCL	ORPHA:20
HP:0031826	Abnormal reflex	3155	HMGCL	OMIM:246450
HP:0031826	Abnormal reflex	127833	SYT2	OMIM:616040
HP:0031826	Abnormal reflex	127833	SYT2	ORPHA:98914
HP:0031826	Abnormal reflex	79705	LRRK1	OMIM:615198
HP:0031826	Abnormal reflex	1410	CRYAB	ORPHA:399058
HP:0031826	Abnormal reflex	79912	PYROXD1	OMIM:617258
HP:0031826	Abnormal reflex	1756	DMD	OMIM:310200
HP:0031826	Abnormal reflex	1756	DMD	OMIM:300376
HP:0031826	Abnormal reflex	4703	NEB	OMIM:256030
HP:0031826	Abnormal reflex	4703	NEB	ORPHA:171436
HP:0031826	Abnormal reflex	4703	NEB	ORPHA:171433
HP:0031826	Abnormal reflex	4703	NEB	ORPHA:171439
HP:0031826	Abnormal reflex	2200	FBN1	ORPHA:284979
HP:0031826	Abnormal reflex	8675	STX16	ORPHA:94089
HP:0031826	Abnormal reflex	256297	PTF1A	OMIM:609069
HP:0031826	Abnormal reflex	7555	CNBP	OMIM:602668
HP:0031826	Abnormal reflex	10397	NDRG1	OMIM:601455
HP:0031826	Abnormal reflex	91942	NDUFAF2	OMIM:618233
HP:0031826	Abnormal reflex	7084	TK2	ORPHA:254886
HP:0031826	Abnormal reflex	7084	TK2	ORPHA:254875
HP:0031826	Abnormal reflex	92667	MGME1	OMIM:615084
HP:0031826	Abnormal reflex	92667	MGME1	ORPHA:352447
HP:0031826	Abnormal reflex	1130	LYST	OMIM:214500
HP:0031826	Abnormal reflex	84892	POMGNT2	ORPHA:899
HP:0031826	Abnormal reflex	148789	B3GALNT2	ORPHA:899
HP:0031826	Abnormal reflex	1282	COL4A1	ORPHA:899
HP:0031826	Abnormal reflex	729920	CRPPA	ORPHA:899
HP:0031826	Abnormal reflex	10329	RXYLT1	ORPHA:899
HP:0031826	Abnormal reflex	1605	DAG1	ORPHA:899
HP:0031826	Abnormal reflex	11041	B4GAT1	ORPHA:899
HP:0031826	Abnormal reflex	2218	FKTN	ORPHA:899
HP:0031826	Abnormal reflex	2218	FKTN	OMIM:611588
HP:0031826	Abnormal reflex	57551	TAOK1	OMIM:619575
HP:0031826	Abnormal reflex	8888	MCM3AP	OMIM:618124
HP:0031826	Abnormal reflex	4704	NDUFA9	OMIM:618247
HP:0031826	Abnormal reflex	64856	VWA1	OMIM:619216
HP:0031826	Abnormal reflex	3913	LAMB2	OMIM:609049
HP:0031826	Abnormal reflex	3913	LAMB2	ORPHA:98915
HP:0031826	Abnormal reflex	463	ZFHX3	OMIM:600223
HP:0031826	Abnormal reflex	7809	BSND	OMIM:602522
HP:0031826	Abnormal reflex	2332	FMR1	OMIM:300623
HP:0031826	Abnormal reflex	2332	FMR1	ORPHA:93256
HP:0031826	Abnormal reflex	4556	MT-TE	ORPHA:254864
HP:0031826	Abnormal reflex	55687	TRMU	ORPHA:254864
HP:0031826	Abnormal reflex	64374	SIL1	ORPHA:559
HP:0031826	Abnormal reflex	9531	BAG3	OMIM:612954
HP:0031826	Abnormal reflex	65260	COA7	OMIM:618387
HP:0031826	Abnormal reflex	526	ATP6V1B2	ORPHA:79500
HP:0031826	Abnormal reflex	57465	TBC1D24	ORPHA:79500
HP:0031826	Abnormal reflex	57465	TBC1D24	OMIM:220500
HP:0031826	Abnormal reflex	476	ATP1A1	OMIM:618036
HP:0031826	Abnormal reflex	6663	SOX10	OMIM:609136
HP:0031826	Abnormal reflex	9759	HDAC4	OMIM:600430
HP:0031826	Abnormal reflex	60386	SLC25A19	OMIM:613710
HP:0031826	Abnormal reflex	203190	LGI3	OMIM:620007
HP:0031826	Abnormal reflex	55005	RMND1	OMIM:614922
HP:0031826	Abnormal reflex	129285	PPP1R21	OMIM:619383
HP:0031826	Abnormal reflex	87178	PNPT1	OMIM:614932
HP:0031826	Abnormal reflex	9987	HNRNPDL	OMIM:609115
HP:0031826	Abnormal reflex	9898	UBAP2L	OMIM:620494
HP:0031826	Abnormal reflex	4359	MPZ	OMIM:618184
HP:0031826	Abnormal reflex	4359	MPZ	OMIM:180800
HP:0031826	Abnormal reflex	4359	MPZ	OMIM:118200
HP:0031826	Abnormal reflex	4359	MPZ	OMIM:145900
HP:0031826	Abnormal reflex	4359	MPZ	OMIM:607677
HP:0031826	Abnormal reflex	4359	MPZ	OMIM:607791
HP:0031826	Abnormal reflex	4359	MPZ	OMIM:607736
HP:0031826	Abnormal reflex	50717	DCAF8	OMIM:610100
HP:0031826	Abnormal reflex	4747	NEFL	ORPHA:99939
HP:0031826	Abnormal reflex	4747	NEFL	OMIM:607684
HP:0031826	Abnormal reflex	4747	NEFL	OMIM:607734
HP:0031826	Abnormal reflex	4747	NEFL	OMIM:617882
HP:0031826	Abnormal reflex	7879	RAB7A	OMIM:600882
HP:0031826	Abnormal reflex	10324	KLHL41	ORPHA:171436
HP:0031826	Abnormal reflex	10324	KLHL41	ORPHA:171433
HP:0031826	Abnormal reflex	10324	KLHL41	ORPHA:171439
HP:0031826	Abnormal reflex	56203	LMOD3	ORPHA:171436
HP:0031826	Abnormal reflex	1073	CFL2	ORPHA:171436
HP:0031826	Abnormal reflex	538	ATP7A	OMIM:300489
HP:0031826	Abnormal reflex	6576	SLC25A1	OMIM:618197
HP:0031826	Abnormal reflex	6576	SLC25A1	ORPHA:98914
HP:0031826	Abnormal reflex	6335	SCN9A	OMIM:243000
HP:0031826	Abnormal reflex	6335	SCN9A	OMIM:201300
HP:0031826	Abnormal reflex	2314	FLII	ORPHA:819
HP:0031826	Abnormal reflex	23096	IQSEC2	ORPHA:819
HP:0031826	Abnormal reflex	10743	RAI1	ORPHA:819
HP:0031826	Abnormal reflex	10743	RAI1	OMIM:182290
HP:0031826	Abnormal reflex	10522	DEAF1	ORPHA:819
HP:0031826	Abnormal reflex	7259	TSPYL1	ORPHA:168593
HP:0031826	Abnormal reflex	1351	COX8A	OMIM:619059
HP:0031826	Abnormal reflex	22954	TRIM32	OMIM:254110
HP:0031826	Abnormal reflex	5238	PGM3	OMIM:615816
HP:0031826	Abnormal reflex	5255	PHKA1	ORPHA:715
HP:0031826	Abnormal reflex	5260	PHKG1	ORPHA:715
HP:0031826	Abnormal reflex	121512	FGD4	OMIM:609311
HP:0031826	Abnormal reflex	7915	ALDH5A1	OMIM:271980
HP:0031826	Abnormal reflex	10801	SEPTIN9	OMIM:162100
HP:0031826	Abnormal reflex	5626	PROP1	ORPHA:226307
HP:0031826	Abnormal reflex	89884	LHX4	ORPHA:226307
HP:0031826	Abnormal reflex	8022	LHX3	ORPHA:226307
HP:0031826	Abnormal reflex	5449	POU1F1	ORPHA:226307
HP:0031826	Abnormal reflex	8820	HESX1	ORPHA:226307
HP:0031826	Abnormal reflex	79753	SNIP1	OMIM:614501
HP:0031826	Abnormal reflex	54499	TMCO1	OMIM:213980
HP:0031826	Abnormal reflex	6609	SMPD1	OMIM:257200
HP:0031826	Abnormal reflex	23095	KIF1B	OMIM:118210
HP:0031826	Abnormal reflex	23065	EMC1	ORPHA:480898
HP:0031826	Abnormal reflex	23065	EMC1	OMIM:616875
HP:0031826	Abnormal reflex	390594	KBTBD13	ORPHA:171439
HP:0031826	Abnormal reflex	50628	GEMIN4	OMIM:617913
HP:0031826	Abnormal reflex	51750	RTEL1	ORPHA:3322
HP:0031826	Abnormal reflex	65057	ACD	ORPHA:3322
HP:0031826	Abnormal reflex	5073	PARN	ORPHA:3322
HP:0031826	Abnormal reflex	7015	TERT	ORPHA:3322
HP:0031826	Abnormal reflex	26277	TINF2	ORPHA:3322
HP:0031826	Abnormal reflex	1736	DKC1	ORPHA:3322
HP:0031826	Abnormal reflex	26353	HSPB8	OMIM:608673
HP:0031826	Abnormal reflex	3098	HK1	OMIM:605285
HP:0031826	Abnormal reflex	65125	WNK1	OMIM:201300
HP:0031826	Abnormal reflex	54463	RETREG1	OMIM:201300
HP:0031826	Abnormal reflex	54463	RETREG1	OMIM:613115
HP:0031826	Abnormal reflex	22907	DHX30	OMIM:617804
HP:0031826	Abnormal reflex	339453	TMEM240	OMIM:607454
HP:0031826	Abnormal reflex	1959	EGR2	OMIM:145900
HP:0031826	Abnormal reflex	57716	PRX	OMIM:145900
HP:0031826	Abnormal reflex	1785	DNM2	OMIM:606482
HP:0031826	Abnormal reflex	8729	GBF1	OMIM:606483
HP:0031826	Abnormal reflex	7167	TPI1	OMIM:615512
HP:0031826	Abnormal reflex	51807	TUBA8	ORPHA:250972
HP:0031826	Abnormal reflex	85358	SHANK3	OMIM:606232
HP:0031826	Abnormal reflex	5191	PEX7	OMIM:266500
HP:0031826	Abnormal reflex	5264	PHYH	OMIM:266500
HP:0031826	Abnormal reflex	50	ACO2	OMIM:614559
HP:0031826	Abnormal reflex	90678	LRSAM1	OMIM:614436
HP:0031826	Abnormal reflex	4694	NDUFA1	OMIM:301020
HP:0031826	Abnormal reflex	405753	DUOXA2	ORPHA:95716
HP:0031826	Abnormal reflex	6528	SLC5A5	ORPHA:95716
HP:0031826	Abnormal reflex	7038	TG	ORPHA:95716
HP:0031826	Abnormal reflex	7173	TPO	ORPHA:95716
HP:0031826	Abnormal reflex	389434	IYD	ORPHA:95716
HP:0031826	Abnormal reflex	50506	DUOX2	ORPHA:95716
HP:0031826	Abnormal reflex	1778	DYNC1H1	OMIM:614563
HP:0031826	Abnormal reflex	1778	DYNC1H1	OMIM:614228
HP:0031826	Abnormal reflex	64423	INF2	OMIM:614455
HP:0031826	Abnormal reflex	5981	RFC1	OMIM:614575
HP:0031826	Abnormal reflex	81790	RNF170	OMIM:608984
HP:0031826	Abnormal reflex	9997	SCO2	OMIM:604377
HP:0031826	Abnormal reflex	79784	MYH14	ORPHA:397744
HP:0031826	Abnormal reflex	2548	GAA	OMIM:232300
HP:0031826	Abnormal reflex	54870	QRICH1	OMIM:617982
HP:0031826	Abnormal reflex	57688	ZSWIM6	OMIM:617865
HP:0031826	Abnormal reflex	3295	HSD17B4	OMIM:233400
HP:0031826	Abnormal reflex	4649	MYO9A	ORPHA:98914
HP:0031826	Abnormal reflex	1103	CHAT	ORPHA:98914
HP:0031826	Abnormal reflex	6572	SLC18A3	ORPHA:98914
HP:0031826	Abnormal reflex	6616	SNAP25	ORPHA:98914
HP:0031826	Abnormal reflex	8292	COLQ	ORPHA:98915
HP:0031826	Abnormal reflex	9499	MYOT	ORPHA:98911
HP:0031826	Abnormal reflex	9516	LITAF	OMIM:601098
HP:0031826	Abnormal reflex	9786	KIAA0586	OMIM:616546
HP:0031826	Abnormal reflex	23533	PIK3R5	OMIM:615217
HP:0031826	Abnormal reflex	9181	ARHGEF2	OMIM:617523
HP:0031826	Abnormal reflex	6834	SURF1	OMIM:616684
HP:0031826	Abnormal reflex	10059	DNM1L	OMIM:614388
HP:0031826	Abnormal reflex	10059	DNM1L	ORPHA:98673
HP:0031826	Abnormal reflex	55775	TDP1	ORPHA:94124
HP:0031826	Abnormal reflex	55775	TDP1	OMIM:607250
HP:0031826	Abnormal reflex	7138	TNNT1	OMIM:620389
HP:0031826	Abnormal reflex	79581	SLC52A2	OMIM:614707
HP:0031826	Abnormal reflex	5339	PLEC	ORPHA:254361
HP:0031826	Abnormal reflex	56704	JPH1	OMIM:607831
HP:0031826	Abnormal reflex	8566	PDXK	OMIM:618511
HP:0031826	Abnormal reflex	2673	GFPT1	ORPHA:353327
HP:0031826	Abnormal reflex	199857	ALG14	ORPHA:353327
HP:0031826	Abnormal reflex	23250	ATP11A	OMIM:619851
HP:0031826	Abnormal reflex	23321	TRIM2	OMIM:615490
HP:0031826	Abnormal reflex	57449	PLEKHG5	OMIM:615376
HP:0031826	Abnormal reflex	57449	PLEKHG5	OMIM:611067
HP:0031826	Abnormal reflex	1020	CDK5	OMIM:616342
HP:0031826	Abnormal reflex	274	BIN1	OMIM:255200
HP:0031826	Abnormal reflex	274	BIN1	ORPHA:169186
HP:0031826	Abnormal reflex	1272	CNTN1	OMIM:612540
HP:0031826	Abnormal reflex	9692	PRORP	OMIM:619737
HP:0031826	Abnormal reflex	966	CD59	OMIM:612300
HP:0031826	Abnormal reflex	55681	SCYL2	OMIM:618766
HP:0031826	Abnormal reflex	55681	SCYL2	ORPHA:1143
HP:0031826	Abnormal reflex	9570	GOSR2	OMIM:620166
HP:0031826	Abnormal reflex	9570	GOSR2	OMIM:614018
HP:0031826	Abnormal reflex	8802	SUCLG1	OMIM:245400
HP:0031826	Abnormal reflex	7274	TTPA	ORPHA:96
HP:0031826	Abnormal reflex	7274	TTPA	OMIM:277460
HP:0031826	Abnormal reflex	1303	COL12A1	OMIM:616470
HP:0031826	Abnormal reflex	1303	COL12A1	ORPHA:536516
HP:0031826	Abnormal reflex	4632	MYL1	OMIM:618414
HP:0031826	Abnormal reflex	3475	IFRD1	ORPHA:98771
HP:0031826	Abnormal reflex	9895	TECPR2	OMIM:615031
HP:0031826	Abnormal reflex	9895	TECPR2	ORPHA:320385
HP:0031826	Abnormal reflex	57863	CADM3	OMIM:619519
HP:0031826	Abnormal reflex	10290	SPEG	OMIM:615959
HP:0031826	Abnormal reflex	10290	SPEG	ORPHA:169186
HP:0031826	Abnormal reflex	8659	ALDH4A1	ORPHA:79101
HP:0031826	Abnormal reflex	9990	SLC12A6	OMIM:620068
HP:0031826	Abnormal reflex	9990	SLC12A6	OMIM:218000
HP:0031826	Abnormal reflex	4952	OCRL	OMIM:309000
HP:0031826	Abnormal reflex	4952	OCRL	ORPHA:534
HP:0031826	Abnormal reflex	25894	PLEKHG4	ORPHA:98765
HP:0031826	Abnormal reflex	64419	MTMR14	OMIM:160150
HP:0031826	Abnormal reflex	6305	SBF1	OMIM:615284
HP:0031826	Abnormal reflex	4076	CAPRIN1	OMIM:620636
HP:0031826	Abnormal reflex	182	JAG1	OMIM:118450
HP:0031826	Abnormal reflex	8565	YARS1	OMIM:608323
HP:0031826	Abnormal reflex	57104	PNPLA2	OMIM:610717
HP:0031826	Abnormal reflex	57104	PNPLA2	ORPHA:98908
HP:0031826	Abnormal reflex	9342	SNAP29	OMIM:609528
HP:0031826	Abnormal reflex	9342	SNAP29	ORPHA:66631
HP:0031826	Abnormal reflex	3300	DNAJB2	OMIM:614881
HP:0031826	Abnormal reflex	6240	RRM1	OMIM:620647
HP:0031826	Abnormal reflex	7317	UBA1	ORPHA:1145
HP:0031826	Abnormal reflex	7317	UBA1	OMIM:301830
HP:0031826	Abnormal reflex	84570	COL25A1	ORPHA:1143
HP:0031826	Abnormal reflex	57222	ERGIC1	ORPHA:1143
HP:0031826	Abnormal reflex	23479	ISCU	OMIM:255125
HP:0031826	Abnormal reflex	51117	COQ4	OMIM:616276
HP:0031826	Abnormal reflex	667	DST	OMIM:614653
HP:0031826	Abnormal reflex	23590	PDSS1	OMIM:614651
HP:0031826	Abnormal reflex	5081	PAX7	OMIM:618578
HP:0031826	Abnormal reflex	79628	SH3TC2	ORPHA:99949
HP:0031826	Abnormal reflex	56052	ALG1	OMIM:608540
HP:0031826	Abnormal reflex	7273	TTN	ORPHA:169186
HP:0031826	Abnormal reflex	353116	RILPL1	OMIM:619790
HP:0031826	Abnormal reflex	353116	RILPL1	ORPHA:98897
HP:0031826	Abnormal reflex	270	AMPD1	OMIM:615511
HP:0031826	Abnormal reflex	10073	SNUPN	OMIM:620793
HP:0031826	Abnormal reflex	6904	TBCD	ORPHA:496641
HP:0031826	Abnormal reflex	427	ASAH1	OMIM:159950
HP:0031826	Abnormal reflex	25929	GEMIN5	OMIM:619333
HP:0031826	Abnormal reflex	28982	FLVCR1	ORPHA:88628
HP:0031826	Abnormal reflex	28982	FLVCR1	OMIM:609033
HP:0031826	Abnormal reflex	51008	ASCC1	OMIM:616867
HP:0031826	Abnormal reflex	9325	TRIP4	OMIM:616866
HP:0031826	Abnormal reflex	11145	PLAAT3	OMIM:620683
HP:0031826	Abnormal reflex	4547	MTTP	ORPHA:14
HP:0031826	Abnormal reflex	51305	KCNK9	ORPHA:166108
HP:0031826	Abnormal reflex	89874	SLC25A21	OMIM:618811
HP:0031826	Abnormal reflex	2065	ERBB3	OMIM:243180
HP:0031826	Abnormal reflex	10755	GIPC1	ORPHA:98897
HP:0031826	Abnormal reflex	953	ENTPD1	ORPHA:401810
HP:0031826	Abnormal reflex	340075	ARSI	ORPHA:401815
HP:0031826	Abnormal reflex	4576	MT-TT	ORPHA:254857
HP:0031826	Abnormal reflex	4762	NEUROG1	OMIM:620469
HP:0031826	Abnormal reflex	8087	FXR1	OMIM:618822
HP:0031826	Abnormal reflex	8087	FXR1	OMIM:618823
HP:0031826	Abnormal reflex	1890	TYMP	OMIM:603041
HP:0031826	Abnormal reflex	4534	MTM1	OMIM:310400
HP:0031826	Abnormal reflex	283446	MYO1H	OMIM:619482
HP:0031826	Abnormal reflex	859	CAV3	ORPHA:488650
HP:0031826	Abnormal reflex	29929	ALG6	OMIM:603147
HP:0031826	Abnormal reflex	5528	PPP2R5D	ORPHA:457279
HP:0031826	Abnormal reflex	51099	ABHD5	ORPHA:98907
HP:0031826	Abnormal reflex	7515	XRCC1	OMIM:617633
HP:0031826	Abnormal reflex	57731	SPTBN4	OMIM:617519
HP:0031826	Abnormal reflex	55331	ACER3	OMIM:617762
HP:0031826	Abnormal reflex	79587	CARS2	OMIM:616672
HP:0031826	Abnormal reflex	1291	COL6A1	OMIM:158810
HP:0031826	Abnormal reflex	132001	TAMM41	OMIM:620139
HP:0031826	Abnormal reflex	8449	DHX16	OMIM:618733
HP:0031826	Abnormal reflex	1374	CPT1A	ORPHA:156
HP:0031826	Abnormal reflex	3094	HINT1	ORPHA:324442
HP:0031826	Abnormal reflex	80207	OPA3	ORPHA:67036
HP:0031826	Abnormal reflex	23345	SYNE1	ORPHA:88644
HP:0031826	Abnormal reflex	23345	SYNE1	ORPHA:98853
HP:0031826	Abnormal reflex	3265	HRAS	ORPHA:2612
HP:0031826	Abnormal reflex	3845	KRAS	ORPHA:2612
HP:0031826	Abnormal reflex	4893	NRAS	ORPHA:2612
HP:0031826	Abnormal reflex	2632	GBE1	OMIM:232500
HP:0031826	Abnormal reflex	5309	PITX3	OMIM:610623
HP:0031826	Abnormal reflex	2671	GFER	ORPHA:330054
HP:0031826	Abnormal reflex	1776	DNASE1L3	ORPHA:36412
HP:0031826	Abnormal reflex	4591	TRIM37	ORPHA:2576
HP:0031826	Abnormal reflex	81839	VANGL1	ORPHA:3027
HP:0031826	Abnormal reflex	80199	FUZ	ORPHA:3027
HP:0031826	Abnormal reflex	3190	HNRNPK	ORPHA:453504
HP:0031826	Abnormal reflex	3190	HNRNPK	ORPHA:352665
HP:0031826	Abnormal reflex	8291	DYSF	ORPHA:268
HP:0031826	Abnormal reflex	112	ADCY6	ORPHA:2680
HP:0031826	Abnormal reflex	163175	LGI4	ORPHA:2680
HP:0031826	Abnormal reflex	8506	CNTNAP1	ORPHA:2680
HP:0031826	Abnormal reflex	3074	HEXB	ORPHA:309169
HP:0031826	Abnormal reflex	1644	DDC	ORPHA:35708
HP:0031826	Abnormal reflex	58	ACTA1	OMIM:616852
HP:0031826	Abnormal reflex	58	ACTA1	ORPHA:2020
HP:0031826	Abnormal reflex	22880	MORC2	ORPHA:466768
HP:0031826	Abnormal reflex	6492	SIM1	ORPHA:398079
HP:0031826	Abnormal reflex	472	ATM	OMIM:208900
HP:0031826	Abnormal reflex	25782	RAB3GAP2	OMIM:212720
HP:0031826	Abnormal reflex	3908	LAMA2	ORPHA:258
HP:0031826	Abnormal reflex	29925	GMPPB	ORPHA:370968
HP:0031826	Abnormal reflex	79147	FKRP	ORPHA:370968
HP:0031826	Abnormal reflex	29954	POMT2	ORPHA:370968
HP:0031826	Abnormal reflex	9215	LARGE1	ORPHA:370968
HP:0031826	Abnormal reflex	10585	POMT1	ORPHA:370968
HP:0031826	Abnormal reflex	6023	RMRP	ORPHA:175
HP:0031826	Abnormal reflex	84992	PIGY	ORPHA:247262
HP:0031826	Abnormal reflex	84720	PIGO	ORPHA:247262
HP:0031826	Abnormal reflex	93210	PGAP3	ORPHA:247262
HP:0031826	Abnormal reflex	284098	PIGW	ORPHA:247262
HP:0031826	Abnormal reflex	27315	PGAP2	ORPHA:247262
HP:0031826	Abnormal reflex	55650	PIGV	ORPHA:247262
HP:0031826	Abnormal reflex	9487	PIGL	ORPHA:247262
HP:0031826	Abnormal reflex	4141	MARS1	OMIM:619692
HP:0031826	Abnormal reflex	84665	MYPN	ORPHA:171881
HP:0031826	Abnormal reflex	7169	TPM2	ORPHA:171881
HP:0031826	Abnormal reflex	7169	TPM2	ORPHA:2020
HP:0031826	Abnormal reflex	7170	TPM3	ORPHA:171881
HP:0031826	Abnormal reflex	7170	TPM3	ORPHA:2020
HP:0031826	Abnormal reflex	2068	ERCC2	ORPHA:1466
HP:0031826	Abnormal reflex	2068	ERCC2	ORPHA:910
HP:0031826	Abnormal reflex	2067	ERCC1	ORPHA:1466
HP:0031826	Abnormal reflex	2074	ERCC6	ORPHA:1466
HP:0031826	Abnormal reflex	2073	ERCC5	ORPHA:1466
HP:0031826	Abnormal reflex	2073	ERCC5	ORPHA:910
HP:0031826	Abnormal reflex	54551	MAGEL2	ORPHA:398069
HP:0031826	Abnormal reflex	81857	MED25	ORPHA:464738
HP:0031826	Abnormal reflex	9927	MFN2	ORPHA:2398
HP:0031826	Abnormal reflex	55157	DARS2	ORPHA:137898
HP:0031826	Abnormal reflex	56652	TWNK	ORPHA:1186
HP:0031826	Abnormal reflex	54332	GDAP1	ORPHA:101097
HP:0031826	Abnormal reflex	4361	MRE11	OMIM:604391
HP:0031826	Abnormal reflex	4361	MRE11	ORPHA:251347
HP:0031826	Abnormal reflex	5351	PLOD1	ORPHA:1900
HP:0031826	Abnormal reflex	22	ABCB7	OMIM:301310
HP:0031826	Abnormal reflex	6329	SCN4A	ORPHA:682
HP:0031826	Abnormal reflex	6329	SCN4A	ORPHA:681
HP:0031826	Abnormal reflex	6329	SCN4A	ORPHA:98913
HP:0031826	Abnormal reflex	779	CACNA1S	ORPHA:681
HP:0031826	Abnormal reflex	10008	KCNE3	ORPHA:681
HP:0031826	Abnormal reflex	57190	SELENON	ORPHA:2020
HP:0031826	Abnormal reflex	4633	MYL2	ORPHA:2020
HP:0031826	Abnormal reflex	3679	ITGA7	ORPHA:2020
HP:0031826	Abnormal reflex	9200	HACD1	ORPHA:2020
HP:0031826	Abnormal reflex	51776	MAP3K20	ORPHA:2020
HP:0031826	Abnormal reflex	93627	TBCK	ORPHA:488632
HP:0031826	Abnormal reflex	23230	VPS13A	ORPHA:2388
HP:0031826	Abnormal reflex	3737	KCNA2	ORPHA:442835
HP:0031826	Abnormal reflex	1759	DNM1	ORPHA:442835
HP:0031826	Abnormal reflex	8120	AP3B2	ORPHA:442835
HP:0031826	Abnormal reflex	523	ATP6V1A	ORPHA:442835
HP:0031826	Abnormal reflex	10991	SLC38A3	ORPHA:442835
HP:0031826	Abnormal reflex	51343	FZR1	ORPHA:442835
HP:0031826	Abnormal reflex	3747	KCNC2	ORPHA:442835
HP:0031826	Abnormal reflex	1917	EEF1A2	ORPHA:442835
HP:0031826	Abnormal reflex	23219	FBXO28	ORPHA:442835
HP:0031826	Abnormal reflex	2561	GABRB2	ORPHA:442835
HP:0031826	Abnormal reflex	8831	SYNGAP1	ORPHA:442835
HP:0031826	Abnormal reflex	2558	GABRA5	ORPHA:442835
HP:0031826	Abnormal reflex	2906	GRIN2D	ORPHA:442835
HP:0031826	Abnormal reflex	116150	NUS1	ORPHA:442835
HP:0031826	Abnormal reflex	1213	CLTC	ORPHA:442835
HP:0031826	Abnormal reflex	51741	WWOX	ORPHA:442835
HP:0031826	Abnormal reflex	23334	SZT2	ORPHA:442835
HP:0031826	Abnormal reflex	348980	HCN1	ORPHA:442835
HP:0031826	Abnormal reflex	25977	NECAP1	ORPHA:442835
HP:0031826	Abnormal reflex	23241	PACS2	ORPHA:442835
HP:0031826	Abnormal reflex	16	AARS1	ORPHA:442835
HP:0031826	Abnormal reflex	6334	SCN8A	ORPHA:442835
HP:0031826	Abnormal reflex	9568	GABBR2	ORPHA:442835
HP:0031826	Abnormal reflex	2555	GABRA2	ORPHA:442835
HP:0031826	Abnormal reflex	55152	DALRD3	ORPHA:442835
HP:0031826	Abnormal reflex	26999	CYFIP2	ORPHA:442835
HP:0031826	Abnormal reflex	4915	NTRK2	ORPHA:442835
HP:0031826	Abnormal reflex	25973	PARS2	ORPHA:442835
HP:0031826	Abnormal reflex	23097	CDK19	ORPHA:442835
HP:0031826	Abnormal reflex	2257	FGF12	ORPHA:442835
HP:0031826	Abnormal reflex	5530	PPP3CA	ORPHA:442835
HP:0031826	Abnormal reflex	478	ATP1A3	ORPHA:442835
HP:0031826	Abnormal reflex	22906	TRAK1	ORPHA:442835
HP:0031826	Abnormal reflex	2566	GABRG2	ORPHA:442835
HP:0031826	Abnormal reflex	7532	YWHAG	ORPHA:442835
HP:0031826	Abnormal reflex	79876	UBA5	ORPHA:442835
HP:0031826	Abnormal reflex	6328	SCN3A	ORPHA:442835
HP:0031826	Abnormal reflex	781	CACNA2D1	ORPHA:442835
HP:0031826	Abnormal reflex	10659	CELF2	ORPHA:442835
HP:0031826	Abnormal reflex	774	CACNA1B	ORPHA:442835
HP:0031826	Abnormal reflex	51412	ACTL6B	ORPHA:442835
HP:0031826	Abnormal reflex	2290	FOXG1	ORPHA:442835
HP:0031826	Abnormal reflex	6506	SLC1A2	ORPHA:442835
HP:0031826	Abnormal reflex	8867	SYNJ1	ORPHA:442835
HP:0031826	Abnormal reflex	477	ATP1A2	ORPHA:442835
HP:0031826	Abnormal reflex	3745	KCNB1	ORPHA:442835
HP:0031826	Abnormal reflex	284111	SLC13A5	ORPHA:442835
HP:0031826	Abnormal reflex	22866	CNKSR2	ORPHA:442835
HP:0031826	Abnormal reflex	773	CACNA1A	ORPHA:442835
HP:0031826	Abnormal reflex	6323	SCN1A	ORPHA:442835
HP:0031826	Abnormal reflex	79947	DHDDS	ORPHA:442835
HP:0031826	Abnormal reflex	29967	LRP12	OMIM:620452
HP:0031826	Abnormal reflex	51128	SAR1B	OMIM:246700
HP:0031826	Abnormal reflex	5621	PRNP	ORPHA:356
HP:0031826	Abnormal reflex	1621	DBH	ORPHA:230
HP:0031826	Abnormal reflex	7415	VCP	ORPHA:435387
HP:0031826	Abnormal reflex	338	APOB	OMIM:615558
HP:0031826	Abnormal reflex	246329	STAC3	ORPHA:168572
HP:0031826	Abnormal reflex	5162	PDHB	ORPHA:255138
HP:0031826	Abnormal reflex	6872	TAF1	OMIM:300966
HP:0031826	Abnormal reflex	57462	MYORG	OMIM:618317
HP:0031826	Abnormal reflex	84033	OBSCN	ORPHA:99845
HP:0031826	Abnormal reflex	23175	LPIN1	ORPHA:99845
HP:0031826	Abnormal reflex	4512	MT-CO1	ORPHA:99845
HP:0031826	Abnormal reflex	4514	MT-CO3	ORPHA:99845
HP:0031826	Abnormal reflex	1134	CHRNA1	ORPHA:98913
HP:0031826	Abnormal reflex	4038	LRP4	ORPHA:98913
HP:0031826	Abnormal reflex	1305	COL13A1	ORPHA:98913
HP:0031826	Abnormal reflex	1140	CHRNB1	ORPHA:98913
HP:0031826	Abnormal reflex	1144	CHRND	ORPHA:98913
HP:0031826	Abnormal reflex	1145	CHRNE	ORPHA:98913
HP:0031826	Abnormal reflex	4593	MUSK	ORPHA:98913
HP:0031826	Abnormal reflex	5913	RAPSN	ORPHA:98913
HP:0031826	Abnormal reflex	375790	AGRN	ORPHA:98913
HP:0031826	Abnormal reflex	221264	AK9	ORPHA:98913
HP:0031826	Abnormal reflex	285489	DOK7	ORPHA:98913
HP:0031826	Abnormal reflex	34	ACADM	ORPHA:42
HP:0031826	Abnormal reflex	26047	CNTNAP2	OMIM:610042
HP:0031826	Abnormal reflex	122622	ADSS1	ORPHA:482601
HP:0031826	Abnormal reflex	2273	FHL1	ORPHA:98863
HP:0031826	Abnormal reflex	2010	EMD	ORPHA:98863
HP:0031826	Abnormal reflex	60681	FKBP10	ORPHA:1149
HP:0031826	Abnormal reflex	1795	DOCK3	OMIM:618292
HP:0031826	Abnormal reflex	4509	MT-ATP8	ORPHA:480
HP:0031826	Abnormal reflex	4567	MT-TL1	ORPHA:480
HP:0031826	Abnormal reflex	50484	RRM2B	ORPHA:480
HP:0031826	Abnormal reflex	54344	DPM3	ORPHA:263494
HP:0031826	Abnormal reflex	55670	PEX26	ORPHA:912
HP:0031826	Abnormal reflex	5824	PEX19	ORPHA:912
HP:0031826	Abnormal reflex	5828	PEX2	ORPHA:912
HP:0031826	Abnormal reflex	8504	PEX3	ORPHA:912
HP:0031826	Abnormal reflex	8799	PEX11B	ORPHA:912
HP:0031826	Abnormal reflex	9409	PEX16	ORPHA:912
HP:0031826	Abnormal reflex	5190	PEX6	ORPHA:912
HP:0031826	Abnormal reflex	5830	PEX5	ORPHA:912
HP:0031826	Abnormal reflex	5189	PEX1	ORPHA:912
HP:0031826	Abnormal reflex	5193	PEX12	ORPHA:912
HP:0031826	Abnormal reflex	5194	PEX13	ORPHA:912
HP:0031826	Abnormal reflex	5195	PEX14	ORPHA:912
HP:0031826	Abnormal reflex	5192	PEX10	ORPHA:912
HP:0031826	Abnormal reflex	23064	SETX	OMIM:606002
HP:0031826	Abnormal reflex	5696	PSMB8	OMIM:256040
HP:0031826	Abnormal reflex	3156	HMGCR	OMIM:620375
HP:0031826	Abnormal reflex	3315	HSPB1	ORPHA:99940
HP:0031826	Abnormal reflex	50846	DHH	ORPHA:168563
HP:0031826	Abnormal reflex	79188	TMEM43	ORPHA:98853
HP:0031826	Abnormal reflex	23224	SYNE2	ORPHA:98853
HP:0031826	Abnormal reflex	4000	LMNA	ORPHA:98853
HP:0031826	Abnormal reflex	7507	XPA	ORPHA:910
HP:0031826	Abnormal reflex	2071	ERCC3	ORPHA:910
HP:0031826	Abnormal reflex	7508	XPC	ORPHA:910
HP:0031826	Abnormal reflex	1643	DDB2	ORPHA:910
HP:0031826	Abnormal reflex	2072	ERCC4	ORPHA:910
HP:0031826	Abnormal reflex	2137	EXTL3	ORPHA:508533
HP:0031826	Abnormal reflex	2137	EXTL3	OMIM:617425
HP:0031826	Abnormal reflex	10749	KIF1C	ORPHA:397946
HP:0031826	Abnormal reflex	10749	KIF1C	OMIM:611302
HP:0031826	Abnormal reflex	3064	HTT	ORPHA:399
HP:0031826	Abnormal reflex	3064	HTT	OMIM:617435
HP:0031826	Abnormal reflex	3064	HTT	OMIM:143100
HP:0031826	Abnormal reflex	3064	HTT	ORPHA:248111
HP:0031826	Abnormal reflex	6515	SLC2A3	ORPHA:399
HP:0031826	Abnormal reflex	55703	POLR3B	OMIM:614381
HP:0031826	Abnormal reflex	55703	POLR3B	OMIM:619742
HP:0031826	Abnormal reflex	55703	POLR3B	OMIM:607694
HP:0031826	Abnormal reflex	26235	FBXL4	OMIM:615471
HP:0031826	Abnormal reflex	4099	MAG	OMIM:616680
HP:0031826	Abnormal reflex	10159	ATP6AP2	OMIM:300911
HP:0031826	Abnormal reflex	8367	H4C5	OMIM:619950
HP:0031826	Abnormal reflex	9853	RUSC2	OMIM:617773
HP:0031826	Abnormal reflex	4750	NEK1	OMIM:617892
HP:0031826	Abnormal reflex	4750	NEK1	ORPHA:803
HP:0031826	Abnormal reflex	6873	TAF2	OMIM:615599
HP:0031826	Abnormal reflex	6873	TAF2	ORPHA:397951
HP:0031826	Abnormal reflex	2895	GRID2	OMIM:616204
HP:0031826	Abnormal reflex	1161	ERCC8	ORPHA:90324
HP:0031826	Abnormal reflex	1161	ERCC8	ORPHA:90321
HP:0031826	Abnormal reflex	51126	NAA20	OMIM:619717
HP:0031826	Abnormal reflex	7360	UGP2	OMIM:618744
HP:0031826	Abnormal reflex	1786	DNMT1	ORPHA:314404
HP:0031826	Abnormal reflex	1786	DNMT1	OMIM:604121
HP:0031826	Abnormal reflex	84942	WDR73	OMIM:251300
HP:0031826	Abnormal reflex	51	ACOX1	ORPHA:2971
HP:0031826	Abnormal reflex	57679	ALS2	ORPHA:247604
HP:0031826	Abnormal reflex	57679	ALS2	OMIM:205100
HP:0031826	Abnormal reflex	57679	ALS2	ORPHA:293168
HP:0031826	Abnormal reflex	57679	ALS2	OMIM:607225
HP:0031826	Abnormal reflex	57679	ALS2	OMIM:606353
HP:0031826	Abnormal reflex	11160	ERLIN2	ORPHA:247604
HP:0031826	Abnormal reflex	11160	ERLIN2	ORPHA:209951
HP:0031826	Abnormal reflex	11160	ERLIN2	OMIM:611225
HP:0031826	Abnormal reflex	347733	TUBB2B	ORPHA:1766
HP:0031826	Abnormal reflex	7436	VLDLR	ORPHA:1766
HP:0031826	Abnormal reflex	7436	VLDLR	OMIM:224050
HP:0031826	Abnormal reflex	124997	WDR81	ORPHA:1766
HP:0031826	Abnormal reflex	51761	ATP8A2	ORPHA:1766
HP:0031826	Abnormal reflex	767	CA8	ORPHA:1766
HP:0031826	Abnormal reflex	2731	GLDC	OMIM:605899
HP:0031826	Abnormal reflex	5521	PPP2R2B	OMIM:604326
HP:0031826	Abnormal reflex	5521	PPP2R2B	ORPHA:98762
HP:0031826	Abnormal reflex	5354	PLP1	ORPHA:99015
HP:0031826	Abnormal reflex	5354	PLP1	ORPHA:280229
HP:0031826	Abnormal reflex	5354	PLP1	OMIM:312920
HP:0031826	Abnormal reflex	4535	MT-ND1	ORPHA:255210
HP:0031826	Abnormal reflex	4536	MT-ND2	ORPHA:255210
HP:0031826	Abnormal reflex	4537	MT-ND3	ORPHA:255210
HP:0031826	Abnormal reflex	4538	MT-ND4	ORPHA:255210
HP:0031826	Abnormal reflex	4578	MT-TW	ORPHA:255210
HP:0031826	Abnormal reflex	4577	MT-TV	ORPHA:255210
HP:0031826	Abnormal reflex	4508	MT-ATP6	ORPHA:255210
HP:0031826	Abnormal reflex	4508	MT-ATP6	ORPHA:320360
HP:0031826	Abnormal reflex	4508	MT-ATP6	ORPHA:225154
HP:0031826	Abnormal reflex	4540	MT-ND5	ORPHA:255210
HP:0031826	Abnormal reflex	4541	MT-ND6	ORPHA:255210
HP:0031826	Abnormal reflex	4566	MT-TK	ORPHA:255210
HP:0031826	Abnormal reflex	4566	MT-TK	ORPHA:1349
HP:0031826	Abnormal reflex	10908	PNPLA6	ORPHA:139480
HP:0031826	Abnormal reflex	10908	PNPLA6	OMIM:612020
HP:0031826	Abnormal reflex	65993	MRPS34	OMIM:617664
HP:0031826	Abnormal reflex	10300	KATNB1	OMIM:616212
HP:0031826	Abnormal reflex	1630	DCC	OMIM:617542
HP:0031826	Abnormal reflex	8722	CTSF	OMIM:615362
HP:0031826	Abnormal reflex	5917	RARS1	ORPHA:438114
HP:0031826	Abnormal reflex	5917	RARS1	OMIM:616140
HP:0031826	Abnormal reflex	200205	IBA57	OMIM:616451
HP:0031826	Abnormal reflex	10528	NOP56	OMIM:614153
HP:0031826	Abnormal reflex	10528	NOP56	ORPHA:276198
HP:0031826	Abnormal reflex	56997	COQ8A	ORPHA:139485
HP:0031826	Abnormal reflex	56997	COQ8A	OMIM:612016
HP:0031826	Abnormal reflex	1841	DTYMK	OMIM:619847
HP:0031826	Abnormal reflex	10501	SEMA6B	OMIM:618876
HP:0031826	Abnormal reflex	57156	TMEM63C	OMIM:619966
HP:0031826	Abnormal reflex	284403	WDR62	OMIM:604317
HP:0031826	Abnormal reflex	284403	WDR62	ORPHA:2512
HP:0031826	Abnormal reflex	146057	TTBK2	OMIM:604432
HP:0031826	Abnormal reflex	8575	PRKRA	ORPHA:210571
HP:0031826	Abnormal reflex	8575	PRKRA	OMIM:612067
HP:0031826	Abnormal reflex	9289	ADGRG1	OMIM:606854
HP:0031826	Abnormal reflex	9289	ADGRG1	ORPHA:98889
HP:0031826	Abnormal reflex	7345	UCHL1	OMIM:615491
HP:0031826	Abnormal reflex	7345	UCHL1	ORPHA:2828
HP:0031826	Abnormal reflex	5832	ALDH18A1	OMIM:616586
HP:0031826	Abnormal reflex	5832	ALDH18A1	OMIM:601162
HP:0031826	Abnormal reflex	5832	ALDH18A1	OMIM:219150
HP:0031826	Abnormal reflex	215	ABCD1	ORPHA:139399
HP:0031826	Abnormal reflex	9326	ZNHIT3	ORPHA:2836
HP:0031826	Abnormal reflex	9326	ZNHIT3	OMIM:260565
HP:0031826	Abnormal reflex	7920	ABHD16A	OMIM:619735
HP:0031826	Abnormal reflex	85465	SELENOI	OMIM:618768
HP:0031826	Abnormal reflex	6513	SLC2A1	OMIM:601042
HP:0031826	Abnormal reflex	6513	SLC2A1	ORPHA:53583
HP:0031826	Abnormal reflex	6513	SLC2A1	OMIM:608885
HP:0031826	Abnormal reflex	6513	SLC2A1	OMIM:606777
HP:0031826	Abnormal reflex	83480	PUS3	ORPHA:488627
HP:0031826	Abnormal reflex	2697	GJA1	ORPHA:2710
HP:0031826	Abnormal reflex	1716	DGUOK	OMIM:251880
HP:0031826	Abnormal reflex	343641	TGM6	ORPHA:276193
HP:0031826	Abnormal reflex	343641	TGM6	OMIM:613908
HP:0031826	Abnormal reflex	857	CAV1	OMIM:606721
HP:0031826	Abnormal reflex	55149	MTPAP	ORPHA:254343
HP:0031826	Abnormal reflex	22872	SEC31A	OMIM:618651
HP:0031826	Abnormal reflex	84504	NKX6-2	OMIM:617560
HP:0031826	Abnormal reflex	84504	NKX6-2	ORPHA:527497
HP:0031826	Abnormal reflex	5297	PI4KA	OMIM:619621
HP:0031826	Abnormal reflex	5297	PI4KA	ORPHA:98889
HP:0031826	Abnormal reflex	6712	SPTBN2	OMIM:615386
HP:0031826	Abnormal reflex	6712	SPTBN2	OMIM:600224
HP:0031826	Abnormal reflex	6712	SPTBN2	ORPHA:352403
HP:0031826	Abnormal reflex	83636	C19orf12	OMIM:614298
HP:0031826	Abnormal reflex	83636	C19orf12	OMIM:615043
HP:0031826	Abnormal reflex	5833	PCYT2	OMIM:618770
HP:0031826	Abnormal reflex	246243	RNASEH1	OMIM:616479
HP:0031826	Abnormal reflex	2783	GNB2	OMIM:619503
HP:0031826	Abnormal reflex	79731	NARS2	OMIM:616239
HP:0031826	Abnormal reflex	54832	VPS13C	ORPHA:2828
HP:0031826	Abnormal reflex	54832	VPS13C	OMIM:616840
HP:0031826	Abnormal reflex	11315	PARK7	ORPHA:2828
HP:0031826	Abnormal reflex	27429	HTRA2	ORPHA:2828
HP:0031826	Abnormal reflex	120892	LRRK2	ORPHA:2828
HP:0031826	Abnormal reflex	9829	DNAJC6	ORPHA:2828
HP:0031826	Abnormal reflex	6622	SNCA	ORPHA:2828
HP:0031826	Abnormal reflex	6622	SNCA	ORPHA:171695
HP:0031826	Abnormal reflex	5420	PODXL	ORPHA:2828
HP:0031826	Abnormal reflex	65018	PINK1	ORPHA:2828
HP:0031826	Abnormal reflex	65018	PINK1	OMIM:605909
HP:0031826	Abnormal reflex	5071	PRKN	ORPHA:2828
HP:0031826	Abnormal reflex	5071	PRKN	OMIM:600116
HP:0031826	Abnormal reflex	5373	PMM2	OMIM:212065
HP:0031826	Abnormal reflex	9897	WASHC5	OMIM:603563
HP:0031826	Abnormal reflex	9897	WASHC5	ORPHA:100989
HP:0031826	Abnormal reflex	8398	PLA2G6	ORPHA:199351
HP:0031826	Abnormal reflex	8398	PLA2G6	OMIM:612953
HP:0031826	Abnormal reflex	8398	PLA2G6	ORPHA:35069
HP:0031826	Abnormal reflex	8398	PLA2G6	OMIM:256600
HP:0031826	Abnormal reflex	10717	AP4B1	OMIM:614066
HP:0031826	Abnormal reflex	10717	AP4B1	ORPHA:280763
HP:0031826	Abnormal reflex	84879	MFSD2A	OMIM:616486
HP:0031826	Abnormal reflex	84879	MFSD2A	ORPHA:2512
HP:0031826	Abnormal reflex	91574	MTRFR	OMIM:615035
HP:0031826	Abnormal reflex	91574	MTRFR	ORPHA:320375
HP:0031826	Abnormal reflex	11154	AP4S1	OMIM:614067
HP:0031826	Abnormal reflex	11154	AP4S1	ORPHA:280763
HP:0031826	Abnormal reflex	23259	DDHD2	OMIM:615033
HP:0031826	Abnormal reflex	27089	UQCRQ	OMIM:615159
HP:0031826	Abnormal reflex	55280	CWF19L1	OMIM:616127
HP:0031826	Abnormal reflex	54902	TTC19	OMIM:615157
HP:0031826	Abnormal reflex	1660	DHX9	OMIM:620988
HP:0031826	Abnormal reflex	57282	SLC4A10	OMIM:620746
HP:0031826	Abnormal reflex	92609	TIMM50	OMIM:617698
HP:0031826	Abnormal reflex	92609	TIMM50	ORPHA:505216
HP:0031826	Abnormal reflex	391356	PTRHD1	OMIM:620747
HP:0031826	Abnormal reflex	8021	NUP214	OMIM:618426
HP:0031826	Abnormal reflex	7337	UBE3A	OMIM:105830
HP:0031826	Abnormal reflex	6638	SNRPN	OMIM:105830
HP:0031826	Abnormal reflex	6638	SNRPN	ORPHA:177907
HP:0031826	Abnormal reflex	111	ADCY5	OMIM:606703
HP:0031826	Abnormal reflex	111	ADCY5	ORPHA:324588
HP:0031826	Abnormal reflex	79796	ALG9	ORPHA:79328
HP:0031826	Abnormal reflex	79796	ALG9	OMIM:608776
HP:0031826	Abnormal reflex	54828	BCAS3	OMIM:619641
HP:0031826	Abnormal reflex	122961	ISCA2	OMIM:616370
HP:0031826	Abnormal reflex	8733	GPAA1	ORPHA:529665
HP:0031826	Abnormal reflex	8733	GPAA1	OMIM:617810
HP:0031826	Abnormal reflex	7358	UGDH	OMIM:618792
HP:0031826	Abnormal reflex	59336	PRDM13	OMIM:619761
HP:0031826	Abnormal reflex	2720	GLB1	OMIM:230650
HP:0031826	Abnormal reflex	56947	MFF	ORPHA:485421
HP:0031826	Abnormal reflex	56947	MFF	OMIM:617086
HP:0031826	Abnormal reflex	6621	SNAPC4	OMIM:620515
HP:0031826	Abnormal reflex	23400	ATP13A2	OMIM:617225
HP:0031826	Abnormal reflex	23400	ATP13A2	ORPHA:513436
HP:0031826	Abnormal reflex	23400	ATP13A2	OMIM:606693
HP:0031826	Abnormal reflex	146227	BEAN1	ORPHA:217012
HP:0031826	Abnormal reflex	79971	WLS	OMIM:619648
HP:0031826	Abnormal reflex	11261	CHP1	OMIM:618438
HP:0031826	Abnormal reflex	2729	GCLC	ORPHA:33574
HP:0031826	Abnormal reflex	51163	DBR1	OMIM:620510
HP:0031826	Abnormal reflex	57192	MCOLN1	ORPHA:578
HP:0031826	Abnormal reflex	57192	MCOLN1	OMIM:252650
HP:0031826	Abnormal reflex	23299	BICD2	OMIM:615290
HP:0031826	Abnormal reflex	23299	BICD2	ORPHA:363454
HP:0031826	Abnormal reflex	23556	PIGN	OMIM:614080
HP:0031826	Abnormal reflex	23556	PIGN	ORPHA:280633
HP:0031826	Abnormal reflex	1436	CSF1R	OMIM:221820
HP:0031826	Abnormal reflex	1436	CSF1R	OMIM:618476
HP:0031826	Abnormal reflex	7143	TNR	OMIM:619653
HP:0031826	Abnormal reflex	85365	ALG2	OMIM:607906
HP:0031826	Abnormal reflex	84833	ATP5MK	OMIM:618683
HP:0031826	Abnormal reflex	125988	MICOS13	OMIM:618329
HP:0031826	Abnormal reflex	2678	GGT1	OMIM:231950
HP:0031826	Abnormal reflex	51227	PIGP	OMIM:617599
HP:0031826	Abnormal reflex	51227	PIGP	ORPHA:1934
HP:0031826	Abnormal reflex	10229	COQ7	OMIM:620402
HP:0031826	Abnormal reflex	6683	SPAST	OMIM:182601
HP:0031826	Abnormal reflex	51062	ATL1	OMIM:182600
HP:0031826	Abnormal reflex	51062	ATL1	OMIM:613708
HP:0031826	Abnormal reflex	6843	VAMP1	ORPHA:251282
HP:0031826	Abnormal reflex	6843	VAMP1	OMIM:108600
HP:0031826	Abnormal reflex	5654	HTRA1	OMIM:600142
HP:0031826	Abnormal reflex	10195	ALG3	OMIM:601110
HP:0031826	Abnormal reflex	81570	CLPB	OMIM:616271
HP:0031826	Abnormal reflex	81570	CLPB	ORPHA:445038
HP:0031826	Abnormal reflex	58497	PRUNE1	OMIM:617481
HP:0031826	Abnormal reflex	58497	PRUNE1	ORPHA:544469
HP:0031826	Abnormal reflex	3658	IREB2	OMIM:618451
HP:0031826	Abnormal reflex	3763	KCNJ6	OMIM:614098
HP:0031826	Abnormal reflex	3763	KCNJ6	ORPHA:435628
HP:0031826	Abnormal reflex	22930	RAB3GAP1	OMIM:619420
HP:0031826	Abnormal reflex	22930	RAB3GAP1	OMIM:600118
HP:0031826	Abnormal reflex	2583	B4GALNT1	OMIM:609195
HP:0031826	Abnormal reflex	2583	B4GALNT1	ORPHA:101006
HP:0031826	Abnormal reflex	835	CASP2	OMIM:620653
HP:0031826	Abnormal reflex	5277	PIGA	OMIM:301072
HP:0031826	Abnormal reflex	5277	PIGA	OMIM:300868
HP:0031826	Abnormal reflex	8905	AP1S2	OMIM:304340
HP:0031826	Abnormal reflex	6792	CDKL5	ORPHA:1934
HP:0031826	Abnormal reflex	3736	KCNA1	ORPHA:1934
HP:0031826	Abnormal reflex	3736	KCNA1	OMIM:160120
HP:0031826	Abnormal reflex	9091	PIGQ	ORPHA:1934
HP:0031826	Abnormal reflex	140679	SLC32A1	ORPHA:1934
HP:0031826	Abnormal reflex	2775	GNAO1	ORPHA:1934
HP:0031826	Abnormal reflex	81603	TRIM8	ORPHA:1934
HP:0031826	Abnormal reflex	2902	GRIN1	ORPHA:1934
HP:0031826	Abnormal reflex	2902	GRIN1	OMIM:614254
HP:0031826	Abnormal reflex	79751	SLC25A22	ORPHA:1934
HP:0031826	Abnormal reflex	150094	SIK1	ORPHA:1934
HP:0031826	Abnormal reflex	8573	CASK	ORPHA:1934
HP:0031826	Abnormal reflex	8573	CASK	OMIM:300749
HP:0031826	Abnormal reflex	23312	DMXL2	ORPHA:1934
HP:0031826	Abnormal reflex	2917	GRM7	ORPHA:1934
HP:0031826	Abnormal reflex	2917	GRM7	OMIM:618922
HP:0031826	Abnormal reflex	170302	ARX	ORPHA:1934
HP:0031826	Abnormal reflex	170302	ARX	OMIM:308350
HP:0031826	Abnormal reflex	170302	ARX	OMIM:300215
HP:0031826	Abnormal reflex	11284	PNKP	ORPHA:1934
HP:0031826	Abnormal reflex	6326	SCN2A	ORPHA:1934
HP:0031826	Abnormal reflex	6324	SCN1B	ORPHA:1934
HP:0031826	Abnormal reflex	4761	NEUROD2	ORPHA:1934
HP:0031826	Abnormal reflex	4001	LMNB1	ORPHA:99027
HP:0031826	Abnormal reflex	4001	LMNB1	OMIM:169500
HP:0031826	Abnormal reflex	54808	DYM	ORPHA:239
HP:0031826	Abnormal reflex	410	ARSA	OMIM:250100
HP:0031826	Abnormal reflex	149233	IL23R	ORPHA:117
HP:0031826	Abnormal reflex	6775	STAT4	ORPHA:117
HP:0031826	Abnormal reflex	3586	IL10	ORPHA:117
HP:0031826	Abnormal reflex	4210	MEFV	ORPHA:117
HP:0031826	Abnormal reflex	1230	CCR1	ORPHA:117
HP:0031826	Abnormal reflex	355	FAS	ORPHA:117
HP:0031826	Abnormal reflex	3592	IL12A	ORPHA:117
HP:0031826	Abnormal reflex	101928376	IL12A-AS1	ORPHA:117
HP:0031826	Abnormal reflex	3106	HLA-B	ORPHA:117
HP:0031826	Abnormal reflex	7099	TLR4	ORPHA:117
HP:0031826	Abnormal reflex	3459	IFNGR1	ORPHA:117
HP:0031826	Abnormal reflex	720	C4A	ORPHA:117
HP:0031826	Abnormal reflex	337867	UBAC2	ORPHA:117
HP:0031826	Abnormal reflex	51752	ERAP1	ORPHA:117
HP:0031826	Abnormal reflex	8302	KLRC4	ORPHA:117
HP:0031826	Abnormal reflex	7187	TRAF3	ORPHA:1930
HP:0031826	Abnormal reflex	81622	UNC93B1	ORPHA:1930
HP:0031826	Abnormal reflex	148022	TICAM1	ORPHA:1930
HP:0031826	Abnormal reflex	7098	TLR3	ORPHA:1930
HP:0031826	Abnormal reflex	29110	TBK1	ORPHA:1930
HP:0031826	Abnormal reflex	29110	TBK1	ORPHA:803
HP:0031826	Abnormal reflex	29110	TBK1	OMIM:616439
HP:0031826	Abnormal reflex	84706	GPT2	OMIM:616281
HP:0031826	Abnormal reflex	84706	GPT2	ORPHA:477673
HP:0031826	Abnormal reflex	23111	SPART	OMIM:275900
HP:0031826	Abnormal reflex	23111	SPART	ORPHA:101000
HP:0031826	Abnormal reflex	4728	NDUFS8	OMIM:618222
HP:0031826	Abnormal reflex	374291	NDUFS7	OMIM:618224
HP:0031826	Abnormal reflex	126129	CPT1C	OMIM:616282
HP:0031826	Abnormal reflex	126129	CPT1C	ORPHA:444099
HP:0031826	Abnormal reflex	23516	SLC39A14	OMIM:617013
HP:0031826	Abnormal reflex	23516	SLC39A14	ORPHA:521406
HP:0031826	Abnormal reflex	2495	FTH1	OMIM:620669
HP:0031826	Abnormal reflex	1317	SLC31A1	OMIM:620306
HP:0031826	Abnormal reflex	85476	GFM1	OMIM:609060
HP:0031826	Abnormal reflex	4719	NDUFS1	OMIM:618226
HP:0031826	Abnormal reflex	1798	DPAGT1	OMIM:608093
HP:0031826	Abnormal reflex	4720	NDUFS2	OMIM:618228
HP:0031826	Abnormal reflex	2653	GCSH	OMIM:620423
HP:0031826	Abnormal reflex	4143	MAT1A	OMIM:250850
HP:0031826	Abnormal reflex	7443	VRK1	OMIM:620542
HP:0031826	Abnormal reflex	7443	VRK1	ORPHA:2254
HP:0031826	Abnormal reflex	7443	VRK1	OMIM:607596
HP:0031826	Abnormal reflex	27235	COQ2	OMIM:146500
HP:0031826	Abnormal reflex	959	CD40LG	OMIM:308230
HP:0031826	Abnormal reflex	123606	NIPA1	OMIM:600363
HP:0031826	Abnormal reflex	26275	HIBCH	ORPHA:88639
HP:0031826	Abnormal reflex	6567	SLC16A2	OMIM:300523
HP:0031826	Abnormal reflex	6567	SLC16A2	ORPHA:59
HP:0031826	Abnormal reflex	440193	CCDC88C	OMIM:616053
HP:0031826	Abnormal reflex	440193	CCDC88C	ORPHA:423275
HP:0031826	Abnormal reflex	23114	NFASC	OMIM:618356
HP:0031826	Abnormal reflex	6647	SOD1	OMIM:618598
HP:0031826	Abnormal reflex	6647	SOD1	ORPHA:803
HP:0031826	Abnormal reflex	6647	SOD1	OMIM:105400
HP:0031826	Abnormal reflex	25814	ATXN10	OMIM:603516
HP:0031826	Abnormal reflex	25814	ATXN10	ORPHA:98761
HP:0031826	Abnormal reflex	55182	RNF220	OMIM:619688
HP:0031826	Abnormal reflex	518	ATP5MC3	OMIM:619681
HP:0031826	Abnormal reflex	116461	TSEN15	OMIM:617026
HP:0031826	Abnormal reflex	10978	CLP1	ORPHA:411493
HP:0031826	Abnormal reflex	10978	CLP1	OMIM:615803
HP:0031826	Abnormal reflex	8878	SQSTM1	OMIM:617145
HP:0031826	Abnormal reflex	8878	SQSTM1	ORPHA:275864
HP:0031826	Abnormal reflex	8878	SQSTM1	ORPHA:803
HP:0031826	Abnormal reflex	8878	SQSTM1	OMIM:616437
HP:0031826	Abnormal reflex	443	ASPA	ORPHA:314918
HP:0031826	Abnormal reflex	443	ASPA	ORPHA:314911
HP:0031826	Abnormal reflex	5053	PAH	OMIM:261600
HP:0031826	Abnormal reflex	5053	PAH	ORPHA:79254
HP:0031826	Abnormal reflex	29078	NDUFAF4	OMIM:618237
HP:0031826	Abnormal reflex	157922	CAMSAP1	OMIM:620316
HP:0031826	Abnormal reflex	6833	ABCC8	OMIM:240800
HP:0031826	Abnormal reflex	5660	PSAP	OMIM:611722
HP:0031826	Abnormal reflex	5660	PSAP	ORPHA:206436
HP:0031826	Abnormal reflex	5660	PSAP	OMIM:249900
HP:0031826	Abnormal reflex	25885	POLR1A	OMIM:620675
HP:0031826	Abnormal reflex	9179	AP4M1	OMIM:612936
HP:0031826	Abnormal reflex	9179	AP4M1	ORPHA:280763
HP:0031826	Abnormal reflex	10166	SLC25A15	ORPHA:415
HP:0031826	Abnormal reflex	10166	SLC25A15	OMIM:238970
HP:0031826	Abnormal reflex	55250	ELP2	OMIM:617270
HP:0031826	Abnormal reflex	84340	GFM2	ORPHA:565624
HP:0031826	Abnormal reflex	56915	EXOSC5	OMIM:619576
HP:0031826	Abnormal reflex	51132	RLIM	OMIM:300978
HP:0031826	Abnormal reflex	25915	NDUFAF3	OMIM:618240
HP:0031826	Abnormal reflex	4125	MAN2B1	OMIM:248500
HP:0031826	Abnormal reflex	80224	NUBPL	OMIM:618242
HP:0031826	Abnormal reflex	8260	NAA10	OMIM:300855
HP:0031826	Abnormal reflex	54834	GDAP2	OMIM:618369
HP:0031826	Abnormal reflex	7965	AIMP2	OMIM:618006
HP:0031826	Abnormal reflex	29920	PYCR2	ORPHA:481152
HP:0031826	Abnormal reflex	29920	PYCR2	OMIM:616420
HP:0031826	Abnormal reflex	29920	PYCR2	ORPHA:2512
HP:0031826	Abnormal reflex	23203	PMPCA	OMIM:213200
HP:0031826	Abnormal reflex	549	AUH	OMIM:250950
HP:0031826	Abnormal reflex	25778	DSTYK	ORPHA:101003
HP:0031826	Abnormal reflex	25778	DSTYK	OMIM:270750
HP:0031826	Abnormal reflex	5805	PTS	ORPHA:13
HP:0031826	Abnormal reflex	5805	PTS	OMIM:261640
HP:0031826	Abnormal reflex	6045	RNF2	OMIM:619460
HP:0031826	Abnormal reflex	1781	DYNC1I2	OMIM:618492
HP:0031826	Abnormal reflex	112812	FDX2	OMIM:251900
HP:0031826	Abnormal reflex	29968	PSAT1	ORPHA:284417
HP:0031826	Abnormal reflex	51102	MECR	OMIM:617282
HP:0031826	Abnormal reflex	23258	DENND5A	OMIM:617281
HP:0031826	Abnormal reflex	51324	SPG21	ORPHA:101001
HP:0031826	Abnormal reflex	51324	SPG21	OMIM:248900
HP:0031826	Abnormal reflex	9496	TBX4	ORPHA:261279
HP:0031826	Abnormal reflex	2743	GLRB	ORPHA:3197
HP:0031826	Abnormal reflex	2743	GLRB	OMIM:614619
HP:0031826	Abnormal reflex	2741	GLRA1	ORPHA:3197
HP:0031826	Abnormal reflex	10243	GPHN	ORPHA:3197
HP:0031826	Abnormal reflex	10243	GPHN	OMIM:615501
HP:0031826	Abnormal reflex	84896	ATAD1	ORPHA:3197
HP:0031826	Abnormal reflex	84896	ATAD1	OMIM:618011
HP:0031826	Abnormal reflex	9152	SLC6A5	ORPHA:3197
HP:0031826	Abnormal reflex	5631	PRPS1	OMIM:301835
HP:0031826	Abnormal reflex	6390	SDHB	OMIM:619224
HP:0031826	Abnormal reflex	9758	FRMPD4	OMIM:300983
HP:0031826	Abnormal reflex	80821	DDHD1	ORPHA:101008
HP:0031826	Abnormal reflex	80821	DDHD1	OMIM:609340
HP:0031826	Abnormal reflex	1200	TPP1	OMIM:609270
HP:0031826	Abnormal reflex	1200	TPP1	ORPHA:284324
HP:0031826	Abnormal reflex	84668	HYCC1	OMIM:610532
HP:0031826	Abnormal reflex	64864	RFX7	OMIM:620330
HP:0031826	Abnormal reflex	50801	KCNK4	OMIM:618381
HP:0031826	Abnormal reflex	11340	EXOSC8	OMIM:616081
HP:0031826	Abnormal reflex	11340	EXOSC8	ORPHA:2254
HP:0031826	Abnormal reflex	55697	VAC14	OMIM:617054
HP:0031826	Abnormal reflex	57498	KIDINS220	OMIM:617296
HP:0031826	Abnormal reflex	9197	SLC33A1	ORPHA:171863
HP:0031826	Abnormal reflex	57003	CCDC47	OMIM:618268
HP:0031826	Abnormal reflex	2033	EP300	OMIM:180849
HP:0031826	Abnormal reflex	1387	CREBBP	OMIM:180849
HP:0031826	Abnormal reflex	92935	MARS2	ORPHA:314603
HP:0031826	Abnormal reflex	92935	MARS2	OMIM:611390
HP:0031826	Abnormal reflex	29926	GMPPA	ORPHA:869
HP:0031826	Abnormal reflex	29926	GMPPA	OMIM:615510
HP:0031826	Abnormal reflex	60684	TRAPPC11	ORPHA:869
HP:0031826	Abnormal reflex	8086	AAAS	ORPHA:869
HP:0031826	Abnormal reflex	8086	AAAS	OMIM:231550
HP:0031826	Abnormal reflex	84197	POMK	ORPHA:370959
HP:0031826	Abnormal reflex	55624	POMGNT1	ORPHA:370959
HP:0031826	Abnormal reflex	7204	TRIO	OMIM:617061
HP:0031826	Abnormal reflex	22978	NT5C2	ORPHA:320396
HP:0031826	Abnormal reflex	22978	NT5C2	OMIM:613162
HP:0031826	Abnormal reflex	2571	GAD1	OMIM:619124
HP:0031826	Abnormal reflex	2760	GM2A	ORPHA:309246
HP:0031826	Abnormal reflex	2760	GM2A	OMIM:272750
HP:0031826	Abnormal reflex	440138	ALG11	ORPHA:280071
HP:0031826	Abnormal reflex	6472	SHMT2	OMIM:619121
HP:0031826	Abnormal reflex	6253	RTN2	OMIM:604805
HP:0031826	Abnormal reflex	6253	RTN2	ORPHA:100993
HP:0031826	Abnormal reflex	5173	PDYN	ORPHA:101108
HP:0031826	Abnormal reflex	5173	PDYN	OMIM:610245
HP:0031826	Abnormal reflex	79143	MBOAT7	OMIM:617188
HP:0031826	Abnormal reflex	79152	FA2H	ORPHA:171629
HP:0031826	Abnormal reflex	79152	FA2H	OMIM:612319
HP:0031826	Abnormal reflex	57038	RARS2	OMIM:611523
HP:0031826	Abnormal reflex	57704	GBA2	ORPHA:320391
HP:0031826	Abnormal reflex	57704	GBA2	OMIM:614409
HP:0031826	Abnormal reflex	2593	GAMT	OMIM:612736
HP:0031826	Abnormal reflex	26278	SACS	OMIM:270550
HP:0031826	Abnormal reflex	2617	GARS1	OMIM:600794
HP:0031826	Abnormal reflex	2617	GARS1	ORPHA:139536
HP:0031826	Abnormal reflex	25978	CHMP2B	OMIM:600795
HP:0031826	Abnormal reflex	25978	CHMP2B	ORPHA:275864
HP:0031826	Abnormal reflex	25978	CHMP2B	ORPHA:803
HP:0031826	Abnormal reflex	10084	PQBP1	OMIM:309500
HP:0031826	Abnormal reflex	23636	NUP62	ORPHA:225154
HP:0031826	Abnormal reflex	53371	NUP54	ORPHA:225154
HP:0031826	Abnormal reflex	103	ADAR	ORPHA:225154
HP:0031826	Abnormal reflex	2629	GBA1	ORPHA:2072
HP:0031826	Abnormal reflex	2629	GBA1	OMIM:230900
HP:0031826	Abnormal reflex	6571	SLC18A2	OMIM:618049
HP:0031826	Abnormal reflex	777	CACNA1E	OMIM:618285
HP:0031826	Abnormal reflex	8242	KDM5C	ORPHA:85279
HP:0031826	Abnormal reflex	8242	KDM5C	OMIM:300534
HP:0031826	Abnormal reflex	4668	NAGA	OMIM:609241
HP:0031826	Abnormal reflex	10273	STUB1	ORPHA:412057
HP:0031826	Abnormal reflex	10273	STUB1	OMIM:618093
HP:0031826	Abnormal reflex	10273	STUB1	OMIM:615768
HP:0031826	Abnormal reflex	1968	EIF2S3	ORPHA:85282
HP:0031826	Abnormal reflex	1968	EIF2S3	OMIM:300148
HP:0031826	Abnormal reflex	2581	GALC	ORPHA:206436
HP:0031826	Abnormal reflex	10295	BCKDK	OMIM:614923
HP:0031826	Abnormal reflex	84081	NSRP1	OMIM:620001
HP:0031826	Abnormal reflex	4693	NDP	ORPHA:649
HP:0031826	Abnormal reflex	84153	RNASEH2C	OMIM:610329
HP:0031826	Abnormal reflex	26580	BSCL2	OMIM:270685
HP:0031826	Abnormal reflex	26580	BSCL2	OMIM:615924
HP:0031826	Abnormal reflex	26580	BSCL2	ORPHA:100998
HP:0031826	Abnormal reflex	26580	BSCL2	ORPHA:139536
HP:0031826	Abnormal reflex	26580	BSCL2	ORPHA:363400
HP:0031826	Abnormal reflex	114034	TOE1	ORPHA:284339
HP:0031826	Abnormal reflex	114034	TOE1	OMIM:614969
HP:0031826	Abnormal reflex	9562	MINPP1	ORPHA:284339
HP:0031826	Abnormal reflex	3839	KPNA3	ORPHA:171612
HP:0031826	Abnormal reflex	80704	SLC19A3	ORPHA:263410
HP:0031826	Abnormal reflex	1496	CTNNA2	OMIM:618174
HP:0031826	Abnormal reflex	25793	FBXO7	OMIM:260300
HP:0031826	Abnormal reflex	25793	FBXO7	ORPHA:171695
HP:0031826	Abnormal reflex	221927	BRAT1	OMIM:618056
HP:0031826	Abnormal reflex	221927	BRAT1	OMIM:614498
HP:0031826	Abnormal reflex	55315	SLC29A3	ORPHA:168569
HP:0031826	Abnormal reflex	5663	PSEN1	ORPHA:275864
HP:0031826	Abnormal reflex	2896	GRN	ORPHA:275864
HP:0031826	Abnormal reflex	54664	TMEM106B	ORPHA:275864
HP:0031826	Abnormal reflex	54664	TMEM106B	OMIM:617964
HP:0031826	Abnormal reflex	4137	MAPT	ORPHA:275864
HP:0031826	Abnormal reflex	54209	TREM2	ORPHA:275864
HP:0031826	Abnormal reflex	54209	TREM2	ORPHA:803
HP:0031826	Abnormal reflex	23236	PLCB1	OMIM:613722
HP:0031826	Abnormal reflex	27445	PCLO	OMIM:608027
HP:0031826	Abnormal reflex	283450	HECTD4	OMIM:620250
HP:0031826	Abnormal reflex	90952	ESAM	OMIM:620371
HP:0031826	Abnormal reflex	11113	CIT	OMIM:617090
HP:0031826	Abnormal reflex	11113	CIT	ORPHA:2512
HP:0031826	Abnormal reflex	2643	GCH1	OMIM:128230
HP:0031826	Abnormal reflex	5393	EXOSC9	OMIM:618065
HP:0031826	Abnormal reflex	5393	EXOSC9	ORPHA:2254
HP:0031826	Abnormal reflex	9782	MATR3	OMIM:606070
HP:0031826	Abnormal reflex	9782	MATR3	ORPHA:600
HP:0031826	Abnormal reflex	9782	MATR3	ORPHA:803
HP:0031826	Abnormal reflex	83700	JAM3	OMIM:613730
HP:0031826	Abnormal reflex	1119	CHKA	OMIM:620023
HP:0031826	Abnormal reflex	4758	NEU1	OMIM:256550
HP:0031826	Abnormal reflex	51218	GLRX5	ORPHA:401866
HP:0031826	Abnormal reflex	51218	GLRX5	OMIM:616859
HP:0031826	Abnormal reflex	51506	UFC1	OMIM:618076
HP:0031826	Abnormal reflex	100996717	NOTCH2NLC	ORPHA:2289
HP:0031826	Abnormal reflex	80055	PGAP1	OMIM:615802
HP:0031826	Abnormal reflex	80055	PGAP1	ORPHA:401820
HP:0031826	Abnormal reflex	2911	GRM1	OMIM:614831
HP:0031826	Abnormal reflex	2911	GRM1	ORPHA:324262
HP:0031826	Abnormal reflex	23431	AP4E1	OMIM:613744
HP:0031826	Abnormal reflex	23431	AP4E1	ORPHA:280763
HP:0031826	Abnormal reflex	547	KIF1A	OMIM:610357
HP:0031826	Abnormal reflex	547	KIF1A	OMIM:614255
HP:0031826	Abnormal reflex	57582	KCNT1	OMIM:614959
HP:0031826	Abnormal reflex	271	AMPD2	OMIM:615809
HP:0031826	Abnormal reflex	271	AMPD2	ORPHA:401805
HP:0031826	Abnormal reflex	271	AMPD2	OMIM:615686
HP:0031826	Abnormal reflex	25839	COG4	ORPHA:263501
HP:0031826	Abnormal reflex	25839	COG4	OMIM:613489
HP:0031826	Abnormal reflex	3735	KARS1	ORPHA:3240
HP:0031826	Abnormal reflex	2892	GRIA3	OMIM:300699
HP:0031826	Abnormal reflex	64324	NSD1	OMIM:117550
HP:0031826	Abnormal reflex	8913	CACNA1G	OMIM:618087
HP:0031826	Abnormal reflex	8913	CACNA1G	OMIM:616795
HP:0031826	Abnormal reflex	64207	IRF2BPL	OMIM:618088
HP:0031826	Abnormal reflex	5119	CHMP1A	OMIM:614961
HP:0031826	Abnormal reflex	340024	SLC6A19	OMIM:234500
HP:0031826	Abnormal reflex	340024	SLC6A19	ORPHA:2116
HP:0031826	Abnormal reflex	6575	SLC20A2	OMIM:213600
HP:0031826	Abnormal reflex	5159	PDGFRB	OMIM:213600
HP:0031826	Abnormal reflex	5155	PDGFB	OMIM:213600
HP:0031826	Abnormal reflex	64087	MCCC2	OMIM:210210
HP:0031826	Abnormal reflex	672	BRCA1	ORPHA:84
HP:0031826	Abnormal reflex	10459	MAD2L2	ORPHA:84
HP:0031826	Abnormal reflex	7516	XRCC2	ORPHA:84
HP:0031826	Abnormal reflex	29089	UBE2T	ORPHA:84
HP:0031826	Abnormal reflex	675	BRCA2	ORPHA:84
HP:0031826	Abnormal reflex	55120	FANCL	ORPHA:84
HP:0031826	Abnormal reflex	2177	FANCD2	ORPHA:84
HP:0031826	Abnormal reflex	2175	FANCA	ORPHA:84
HP:0031826	Abnormal reflex	2187	FANCB	ORPHA:84
HP:0031826	Abnormal reflex	2176	FANCC	ORPHA:84
HP:0031826	Abnormal reflex	2178	FANCE	ORPHA:84
HP:0031826	Abnormal reflex	2188	FANCF	ORPHA:84
HP:0031826	Abnormal reflex	2189	FANCG	ORPHA:84
HP:0031826	Abnormal reflex	5888	RAD51	ORPHA:84
HP:0031826	Abnormal reflex	5889	RAD51C	ORPHA:84
HP:0031826	Abnormal reflex	55159	RFWD3	ORPHA:84
HP:0031826	Abnormal reflex	83990	BRIP1	ORPHA:84
HP:0031826	Abnormal reflex	57697	FANCM	ORPHA:84
HP:0031826	Abnormal reflex	79728	PALB2	ORPHA:84
HP:0031826	Abnormal reflex	84464	SLX4	ORPHA:84
HP:0031826	Abnormal reflex	55215	FANCI	ORPHA:84
HP:0031826	Abnormal reflex	10558	SPTLC1	OMIM:620285
HP:0031826	Abnormal reflex	7276	TTR	OMIM:105210
HP:0031826	Abnormal reflex	1678	TIMM8A	OMIM:304700
HP:0031826	Abnormal reflex	6687	SPG7	OMIM:607259
HP:0031826	Abnormal reflex	9839	ZEB2	ORPHA:261552
HP:0031826	Abnormal reflex	26053	AUTS2	ORPHA:352490
HP:0031826	Abnormal reflex	132158	GLYCTK	OMIM:220120
HP:0031826	Abnormal reflex	65055	REEP1	OMIM:610250
HP:0031826	Abnormal reflex	65055	REEP1	ORPHA:139536
HP:0031826	Abnormal reflex	26090	ABHD12	OMIM:612674
HP:0031826	Abnormal reflex	10352	WARS2	ORPHA:572798
HP:0031826	Abnormal reflex	10352	WARS2	OMIM:617710
HP:0031826	Abnormal reflex	56922	MCCC1	OMIM:210200
HP:0031826	Abnormal reflex	2705	GJB1	ORPHA:1175
HP:0031826	Abnormal reflex	113278	SLC52A3	OMIM:211530
HP:0031826	Abnormal reflex	57338	JPH3	ORPHA:98934
HP:0031826	Abnormal reflex	57338	JPH3	OMIM:606438
HP:0031826	Abnormal reflex	3752	KCND3	ORPHA:98772
HP:0031826	Abnormal reflex	3752	KCND3	OMIM:607346
HP:0031826	Abnormal reflex	4204	MECP2	OMIM:300673
HP:0031826	Abnormal reflex	4204	MECP2	OMIM:300055
HP:0031826	Abnormal reflex	2512	FTL	OMIM:606159
HP:0031826	Abnormal reflex	149371	EXOC8	OMIM:619076
HP:0031826	Abnormal reflex	1593	CYP27A1	ORPHA:909
HP:0031826	Abnormal reflex	6804	STX1A	ORPHA:904
HP:0031826	Abnormal reflex	7461	CLIP2	ORPHA:904
HP:0031826	Abnormal reflex	84277	DNAJC30	ORPHA:904
HP:0031826	Abnormal reflex	8468	FKBP6	ORPHA:904
HP:0031826	Abnormal reflex	5982	RFC2	ORPHA:904
HP:0031826	Abnormal reflex	2969	GTF2I	ORPHA:904
HP:0031826	Abnormal reflex	3984	LIMK1	ORPHA:904
HP:0031826	Abnormal reflex	9569	GTF2IRD1	ORPHA:904
HP:0031826	Abnormal reflex	155382	VPS37D	ORPHA:904
HP:0031826	Abnormal reflex	155368	METTL27	ORPHA:904
HP:0031826	Abnormal reflex	114049	BUD23	ORPHA:904
HP:0031826	Abnormal reflex	7458	EIF4H	ORPHA:904
HP:0031826	Abnormal reflex	84163	GTF2IRD2	ORPHA:904
HP:0031826	Abnormal reflex	26608	TBL2	ORPHA:904
HP:0031826	Abnormal reflex	653361	NCF1	ORPHA:904
HP:0031826	Abnormal reflex	135886	TMEM270	ORPHA:904
HP:0031826	Abnormal reflex	9031	BAZ1B	ORPHA:904
HP:0031826	Abnormal reflex	2006	ELN	ORPHA:904
HP:0031826	Abnormal reflex	2006	ELN	OMIM:194050
HP:0031826	Abnormal reflex	23287	AGTPBP1	ORPHA:2254
HP:0031826	Abnormal reflex	51010	EXOSC3	ORPHA:2254
HP:0031826	Abnormal reflex	51010	EXOSC3	OMIM:614678
HP:0031826	Abnormal reflex	91137	SLC25A46	ORPHA:2254
HP:0031826	Abnormal reflex	91137	SLC25A46	OMIM:616505
HP:0031826	Abnormal reflex	6507	SLC1A3	ORPHA:2131
HP:0031826	Abnormal reflex	3748	KCNC3	ORPHA:98768
HP:0031826	Abnormal reflex	3748	KCNC3	OMIM:605259
HP:0031826	Abnormal reflex	27286	SRPX2	ORPHA:98889
HP:0031826	Abnormal reflex	3708	ITPR1	ORPHA:98769
HP:0031826	Abnormal reflex	3708	ITPR1	OMIM:117360
HP:0031826	Abnormal reflex	3708	ITPR1	OMIM:606658
HP:0031826	Abnormal reflex	80025	PANK2	OMIM:234200
HP:0031826	Abnormal reflex	80025	PANK2	ORPHA:216873
HP:0031826	Abnormal reflex	80025	PANK2	ORPHA:216866
HP:0031826	Abnormal reflex	11128	POLR3A	ORPHA:447896
HP:0031826	Abnormal reflex	11128	POLR3A	OMIM:607694
HP:0031826	Abnormal reflex	724066	ATXN8	ORPHA:98760
HP:0031826	Abnormal reflex	6315	ATXN8OS	ORPHA:98760
HP:0031826	Abnormal reflex	10613	ERLIN1	ORPHA:401785
HP:0031826	Abnormal reflex	10613	ERLIN1	OMIM:615681
HP:0031826	Abnormal reflex	23503	ZFYVE26	OMIM:270700
HP:0031826	Abnormal reflex	1737	DLAT	OMIM:245348
HP:0031826	Abnormal reflex	3251	HPRT1	OMIM:300322
HP:0031826	Abnormal reflex	3251	HPRT1	ORPHA:79233
HP:0031826	Abnormal reflex	6558	SLC12A2	OMIM:619080
HP:0031826	Abnormal reflex	9440	MED17	OMIM:613668
HP:0031826	Abnormal reflex	51085	MLXIPL	OMIM:194050
HP:0031826	Abnormal reflex	55343	SLC35C1	ORPHA:99843
HP:0031826	Abnormal reflex	55129	ANO10	ORPHA:284289
HP:0031826	Abnormal reflex	11117	EMILIN1	OMIM:620080
HP:0031826	Abnormal reflex	4677	NARS1	OMIM:619091
HP:0031826	Abnormal reflex	4677	NARS1	OMIM:619092
HP:0031826	Abnormal reflex	546	ATRX	OMIM:309580
HP:0031826	Abnormal reflex	57393	CLTRN	ORPHA:2116
HP:0031826	Abnormal reflex	3329	HSPD1	OMIM:605280
HP:0031826	Abnormal reflex	3329	HSPD1	ORPHA:100994
HP:0031826	Abnormal reflex	3329	HSPD1	OMIM:612233
HP:0031826	Abnormal reflex	1384	CRAT	OMIM:617917
HP:0031826	Abnormal reflex	64116	SLC39A8	ORPHA:468699
HP:0031826	Abnormal reflex	64116	SLC39A8	OMIM:616721
HP:0031826	Abnormal reflex	200403	VWA3B	OMIM:616948
HP:0031826	Abnormal reflex	3178	HNRNPA1	ORPHA:803
HP:0031826	Abnormal reflex	8148	TAF15	ORPHA:803
HP:0031826	Abnormal reflex	5445	PON2	ORPHA:803
HP:0031826	Abnormal reflex	9217	VAPB	ORPHA:803
HP:0031826	Abnormal reflex	5630	PRPH	ORPHA:803
HP:0031826	Abnormal reflex	5630	PRPH	OMIM:105400
HP:0031826	Abnormal reflex	55830	GLT8D1	ORPHA:803
HP:0031826	Abnormal reflex	755	CFAP410	ORPHA:803
HP:0031826	Abnormal reflex	10891	PPARGC1A	ORPHA:803
HP:0031826	Abnormal reflex	10133	OPTN	ORPHA:803
HP:0031826	Abnormal reflex	1639	DCTN1	ORPHA:803
HP:0031826	Abnormal reflex	1639	DCTN1	OMIM:105400
HP:0031826	Abnormal reflex	9896	FIG4	ORPHA:803
HP:0031826	Abnormal reflex	5444	PON1	ORPHA:803
HP:0031826	Abnormal reflex	5446	PON3	ORPHA:803
HP:0031826	Abnormal reflex	4744	NEFH	ORPHA:803
HP:0031826	Abnormal reflex	4744	NEFH	OMIM:105400
HP:0031826	Abnormal reflex	5216	PFN1	ORPHA:803
HP:0031826	Abnormal reflex	283	ANG	ORPHA:803
HP:0031826	Abnormal reflex	23435	TARDBP	ORPHA:803
HP:0031826	Abnormal reflex	29978	UBQLN2	ORPHA:803
HP:0031826	Abnormal reflex	2733	GLE1	ORPHA:803
HP:0031826	Abnormal reflex	2521	FUS	ORPHA:803
HP:0031826	Abnormal reflex	6311	ATXN2	ORPHA:803
HP:0031826	Abnormal reflex	1610	DAO	ORPHA:803
HP:0031826	Abnormal reflex	2066	ERBB4	ORPHA:803
HP:0031826	Abnormal reflex	311	ANXA11	ORPHA:803
HP:0031826	Abnormal reflex	23025	UNC13A	ORPHA:803
HP:0031826	Abnormal reflex	899	CCNF	ORPHA:803
HP:0031826	Abnormal reflex	400916	CHCHD10	ORPHA:803
HP:0031826	Abnormal reflex	6509	SLC1A4	ORPHA:447997
HP:0031826	Abnormal reflex	6509	SLC1A4	OMIM:616657
HP:0031826	Abnormal reflex	6314	ATXN7	ORPHA:94147
HP:0031826	Abnormal reflex	6314	ATXN7	OMIM:164500
HP:0031826	Abnormal reflex	2776	GNAQ	ORPHA:3205
HP:0031826	Abnormal reflex	28962	OSTM1	OMIM:259720
HP:0031826	Abnormal reflex	51271	UBAP1	ORPHA:100993
HP:0031826	Abnormal reflex	7546	ZIC2	OMIM:609637
HP:0031826	Abnormal reflex	51142	CHCHD2	OMIM:616710
HP:0031826	Abnormal reflex	57017	COQ9	OMIM:614654
HP:0031826	Abnormal reflex	3897	L1CAM	ORPHA:2466
HP:0031826	Abnormal reflex	57165	GJC2	OMIM:613206
HP:0031826	Abnormal reflex	137492	VPS37A	OMIM:614898
HP:0031826	Abnormal reflex	57410	SCYL1	OMIM:616719
HP:0031826	Abnormal reflex	57410	SCYL1	ORPHA:466794
HP:0031826	Abnormal reflex	219285	SAMD9L	ORPHA:2585
HP:0031826	Abnormal reflex	219285	SAMD9L	OMIM:619806
HP:0031826	Abnormal reflex	1861	TOR1A	OMIM:128100
HP:0031826	Abnormal reflex	4976	OPA1	OMIM:210000
HP:0031826	Abnormal reflex	6310	ATXN1	OMIM:164400
HP:0031826	Abnormal reflex	10075	HUWE1	OMIM:309590
HP:0031826	Abnormal reflex	55906	ZC4H2	OMIM:301041
HP:0031826	Abnormal reflex	23600	AMACR	OMIM:614307
HP:0031826	Abnormal reflex	113235	SLC46A1	ORPHA:90045
HP:0031826	Abnormal reflex	91147	TMEM67	OMIM:216360
HP:0031826	Abnormal reflex	91147	TMEM67	ORPHA:1454
HP:0031826	Abnormal reflex	9131	AIFM1	ORPHA:83629
HP:0031826	Abnormal reflex	55187	VPS13D	OMIM:607317
HP:0031826	Abnormal reflex	5859	QARS1	OMIM:615760
HP:0031826	Abnormal reflex	2782	GNB1	OMIM:616973
HP:0031826	Abnormal reflex	57505	AARS2	OMIM:615889
HP:0031826	Abnormal reflex	91869	RFT1	OMIM:612015
HP:0031826	Abnormal reflex	54820	NDE1	OMIM:605013
HP:0031826	Abnormal reflex	54820	NDE1	OMIM:614019
HP:0031826	Abnormal reflex	6709	SPTAN1	OMIM:613477
HP:0031826	Abnormal reflex	10342	TFG	OMIM:615658
HP:0031826	Abnormal reflex	100134444	KCNJ18	OMIM:613239
HP:0031826	Abnormal reflex	2138	EYA1	ORPHA:2792
HP:0031826	Abnormal reflex	5075	PAX1	ORPHA:2792
HP:0031826	Abnormal reflex	259232	NALCN	OMIM:615419
HP:0031826	Abnormal reflex	80208	SPG11	OMIM:602099
HP:0031826	Abnormal reflex	100506658	OCLN	ORPHA:1229
HP:0031826	Abnormal reflex	100506658	OCLN	OMIM:251290
HP:0031826	Abnormal reflex	128989	TANGO2	ORPHA:480864
HP:0031826	Abnormal reflex	5582	PRKCG	OMIM:605361
HP:0031826	Abnormal reflex	9420	CYP7B1	OMIM:270800
HP:0031826	Abnormal reflex	56623	INPP5E	ORPHA:1454
HP:0031826	Abnormal reflex	23322	RPGRIP1L	ORPHA:1454
HP:0031826	Abnormal reflex	57545	CC2D2A	ORPHA:1454
HP:0031826	Abnormal reflex	4287	ATXN3	ORPHA:276238
HP:0031826	Abnormal reflex	4287	ATXN3	ORPHA:276244
HP:0031826	Abnormal reflex	4287	ATXN3	ORPHA:276241
HP:0031826	Abnormal reflex	5498	PPOX	ORPHA:79473
HP:0031826	Abnormal reflex	56978	PRDM8	OMIM:616640
HP:0031826	Abnormal reflex	56978	PRDM8	ORPHA:324290
HP:0031826	Abnormal reflex	51501	HIKESHI	OMIM:616881
HP:0031826	Abnormal reflex	81689	ISCA1	OMIM:617613
HP:0031826	Abnormal reflex	22948	CCT5	ORPHA:139578
HP:0031826	Abnormal reflex	22948	CCT5	OMIM:256840
HP:0031826	Abnormal reflex	6697	SPR	ORPHA:70594
HP:0031826	Abnormal reflex	2670	GFAP	ORPHA:363722
HP:0031826	Abnormal reflex	2670	GFAP	ORPHA:363717
HP:0031826	Abnormal reflex	122553	TRAPPC6B	OMIM:617862
HP:0031826	Abnormal reflex	1806	DPYD	ORPHA:1675
HP:0031826	Abnormal reflex	79867	TCTN2	OMIM:616654
HP:0031826	Abnormal reflex	57570	TRMT5	OMIM:616539
HP:0031826	Abnormal reflex	55704	CCDC88A	OMIM:617507
HP:0031826	Abnormal reflex	6785	ELOVL4	OMIM:133190
HP:0031826	Abnormal reflex	617	BCS1L	OMIM:124000
HP:0031826	Abnormal reflex	5456	POU3F4	ORPHA:1435
HP:0031826	Abnormal reflex	54888	NSUN2	OMIM:611091
HP:0031826	Abnormal reflex	440	ASNS	OMIM:615574
HP:0031826	Abnormal reflex	4724	NDUFS4	OMIM:252010
HP:0031826	Abnormal reflex	51294	PCDH12	OMIM:251280
HP:0031826	Abnormal reflex	6389	SDHA	OMIM:252011
HP:0031826	Abnormal reflex	8139	GAN	OMIM:256850
HP:0031826	Abnormal reflex	9276	COPB2	ORPHA:2512
HP:0031826	Abnormal reflex	9928	KIF14	ORPHA:2512
HP:0031826	Abnormal reflex	22995	CEP152	ORPHA:2512
HP:0031826	Abnormal reflex	55262	TRAPPC14	ORPHA:2512
HP:0031826	Abnormal reflex	163786	SASS6	ORPHA:2512
HP:0031826	Abnormal reflex	4176	MCM7	ORPHA:2512
HP:0031826	Abnormal reflex	80254	CEP63	ORPHA:2512
HP:0031826	Abnormal reflex	29081	METTL5	ORPHA:2512
HP:0031826	Abnormal reflex	79023	NUP37	ORPHA:2512
HP:0031826	Abnormal reflex	23310	NCAPD3	ORPHA:2512
HP:0031826	Abnormal reflex	6301	SARS1	ORPHA:2512
HP:0031826	Abnormal reflex	55755	CDK5RAP2	ORPHA:2512
HP:0031826	Abnormal reflex	79648	MCPH1	ORPHA:2512
HP:0031826	Abnormal reflex	6491	STIL	ORPHA:2512
HP:0031826	Abnormal reflex	23141	ANKLE2	ORPHA:2512
HP:0031826	Abnormal reflex	259266	ASPM	ORPHA:2512
HP:0031826	Abnormal reflex	7109	TRAPPC10	ORPHA:2512
HP:0031826	Abnormal reflex	7453	WARS1	ORPHA:2512
HP:0031826	Abnormal reflex	1911	PHC1	ORPHA:2512
HP:0031826	Abnormal reflex	1062	CENPE	ORPHA:2512
HP:0031826	Abnormal reflex	6884	TAF13	ORPHA:2512
HP:0031826	Abnormal reflex	9662	CEP135	ORPHA:2512
HP:0031826	Abnormal reflex	57082	KNL1	ORPHA:2512
HP:0031826	Abnormal reflex	1021	CDK6	ORPHA:2512
HP:0031826	Abnormal reflex	51663	ZFR	ORPHA:401840
HP:0031826	Abnormal reflex	2182	ACSL4	OMIM:300387
HP:0031826	Abnormal reflex	51075	TMX2	OMIM:618730
HP:0031826	Abnormal reflex	18	ABAT	OMIM:613163
HP:0031826	Abnormal reflex	10280	SIGMAR1	OMIM:614373
HP:0031826	Abnormal reflex	9907	AP5Z1	ORPHA:306511
HP:0031826	Abnormal reflex	158	ADSL	OMIM:103050
HP:0031826	Abnormal reflex	10466	COG5	ORPHA:263487
HP:0031826	Abnormal reflex	10785	WDR4	OMIM:618346
HP:0031826	Abnormal reflex	4574	MT-TS1	OMIM:220110
HP:0031826	Abnormal reflex	4574	MT-TS1	ORPHA:663
HP:0031826	Abnormal reflex	4570	MT-TN	OMIM:220110
HP:0031826	Abnormal reflex	4570	MT-TN	ORPHA:663
HP:0031826	Abnormal reflex	27247	NFU1	OMIM:620938
HP:0031826	Abnormal reflex	6418	SET	OMIM:618106
HP:0031826	Abnormal reflex	9256	TSPOAP1	ORPHA:101150
HP:0031826	Abnormal reflex	7054	TH	ORPHA:101150
HP:0031826	Abnormal reflex	5457	POU4F1	ORPHA:314647
HP:0031826	Abnormal reflex	23261	CAMTA1	ORPHA:314647
HP:0031826	Abnormal reflex	4568	MT-TL2	ORPHA:663
HP:0031826	Abnormal reflex	1352	COX10	OMIM:619046
HP:0031826	Abnormal reflex	10157	AASS	ORPHA:2203
HP:0031826	Abnormal reflex	3035	HARS1	ORPHA:488333
HP:0031826	Abnormal reflex	1353	COX11	OMIM:620275
HP:0031826	Abnormal reflex	84679	SLC9A7	OMIM:301024
HP:0031826	Abnormal reflex	4784	NFIX	OMIM:602535
HP:0031826	Abnormal reflex	2660	MSTN	OMIM:614160
HP:0031826	Abnormal reflex	64834	ELOVL1	OMIM:618527
HP:0031826	Abnormal reflex	8622	PDE8B	OMIM:609161
HP:0031826	Abnormal reflex	3778	KCNMA1	OMIM:609446
HP:0031826	Abnormal reflex	9377	COX5A	OMIM:619064
HP:0031826	Abnormal reflex	4697	NDUFA4	OMIM:619065
HP:0031826	Abnormal reflex	55361	PI4K2A	OMIM:620732
HP:0031826	Abnormal reflex	1267	CNP	OMIM:619071
HP:0031826	Abnormal reflex	56006	SMG9	OMIM:619995
HP:0031826	Abnormal reflex	5063	PAK3	OMIM:300558
HP:0031826	Abnormal reflex	6711	SPTBN1	OMIM:619475
HP:0031826	Abnormal reflex	58494	JAM2	OMIM:618824
HP:0031826	Abnormal reflex	4929	NR4A2	ORPHA:98808
HP:0031826	Abnormal reflex	3615	IMPDH2	ORPHA:98808
HP:0031826	Abnormal reflex	2517	FUCA1	OMIM:230000
HP:0031826	Abnormal reflex	91461	PKDCC	OMIM:618821
HP:0031826	Abnormal reflex	90624	LYRM7	OMIM:615838
HP:0031826	Abnormal reflex	166785	MMAA	OMIM:251100
HP:0031826	Abnormal reflex	23137	SMC5	OMIM:620185
HP:0031826	Abnormal reflex	1615	DARS1	OMIM:615281
HP:0031826	Abnormal reflex	51124	IER3IP1	OMIM:614231
HP:0031826	Abnormal reflex	9474	ATG5	OMIM:617584
HP:0031826	Abnormal reflex	10531	PITRM1	OMIM:619405
HP:0031826	Abnormal reflex	54676	GTPBP2	OMIM:617988
HP:0031826	Abnormal reflex	84919	PPP1R15B	OMIM:616817
HP:0031826	Abnormal reflex	84919	PPP1R15B	ORPHA:391408
HP:0031826	Abnormal reflex	93587	TRMT10A	ORPHA:391408
HP:0031826	Abnormal reflex	2799	GNS	OMIM:252940
HP:0031826	Abnormal reflex	57479	PRR12	OMIM:619539
HP:0031826	Abnormal reflex	10516	FBLN5	ORPHA:90348
HP:0031826	Abnormal reflex	85021	REPS1	OMIM:617916
HP:0031826	Abnormal reflex	3954	LETM1	OMIM:620089
HP:0031826	Abnormal reflex	64432	MRPS25	OMIM:619025
HP:0031826	Abnormal reflex	587	BCAT2	OMIM:618850
HP:0031826	Abnormal reflex	51645	PPIL1	OMIM:619301
HP:0031826	Abnormal reflex	51362	CDC40	OMIM:619302
HP:0031826	Abnormal reflex	84274	COQ5	OMIM:619028
HP:0031826	Abnormal reflex	10844	TUBGCP2	OMIM:618737
HP:0031826	Abnormal reflex	5091	PC	OMIM:266150
HP:0031826	Abnormal reflex	10367	MICU1	OMIM:615673
HP:0031826	Abnormal reflex	23446	SLC44A1	OMIM:618868
HP:0031826	Abnormal reflex	51091	SEPSECS	OMIM:613811
HP:0031826	Abnormal reflex	253738	EBF3	ORPHA:96148
HP:0031826	Abnormal reflex	3785	KCNQ2	ORPHA:1949
HP:0031826	Abnormal reflex	3786	KCNQ3	ORPHA:1949
HP:0031826	Abnormal reflex	6536	SLC6A9	OMIM:617301
HP:0031826	Abnormal reflex	9101	USP8	ORPHA:401795
HP:0031826	Abnormal reflex	100131801	PET100	OMIM:619055
HP:0031826	Abnormal reflex	80746	TSEN2	OMIM:612389
HP:0031826	Abnormal reflex	819	CAMLG	OMIM:620201
HP:0031826	Abnormal reflex	2801	GOLGA2	OMIM:620240
HP:0031826	Abnormal reflex	23028	KDM1A	ORPHA:477993
HP:0031826	Abnormal reflex	133686	NADK2	OMIM:616034
HP:0031826	Abnormal reflex	26834	RNU4-2	OMIM:620851
HP:0031826	Abnormal reflex	78987	CRELD1	OMIM:620771
HP:0031826	Abnormal reflex	113612	CYP2U1	OMIM:615030
HP:0031826	Abnormal reflex	113612	CYP2U1	ORPHA:320411
HP:0031826	Abnormal reflex	57128	LYRM4	OMIM:615595
HP:0031826	Abnormal reflex	11277	TREX1	OMIM:192315
HP:0031826	Abnormal reflex	7701	ZNF142	OMIM:618425
HP:0031826	Abnormal reflex	5361	PLXNA1	OMIM:619955
HP:0031826	Abnormal reflex	55823	VPS11	OMIM:619637
HP:0031826	Abnormal reflex	10060	ABCC9	OMIM:619719
HP:0031826	Abnormal reflex	285362	SUMF1	OMIM:272200
HP:0031826	Abnormal reflex	10939	AFG3L2	ORPHA:101109
HP:0031826	Abnormal reflex	10939	AFG3L2	OMIM:610246
HP:0031826	Abnormal reflex	5010	CLDN11	OMIM:619328
HP:0031826	Abnormal reflex	10667	FARS2	ORPHA:466722
HP:0031826	Abnormal reflex	10667	FARS2	OMIM:617046
HP:0031826	Abnormal reflex	8869	ST3GAL5	OMIM:609056
HP:0031826	Abnormal reflex	4948	OCA2	ORPHA:98794
HP:0031826	Abnormal reflex	8813	DPM1	OMIM:608799
HP:0031826	Abnormal reflex	348	APOE	OMIM:607822
HP:0031826	Abnormal reflex	22943	DKK1	ORPHA:268882
HP:0031826	Abnormal reflex	51308	REEP2	OMIM:620606
HP:0031826	Abnormal reflex	51308	REEP2	OMIM:615625
HP:0031826	Abnormal reflex	3930	LBR	OMIM:169400
HP:0031826	Abnormal reflex	823	CAPN1	OMIM:616907
HP:0031826	Abnormal reflex	823	CAPN1	ORPHA:488594
HP:0031826	Abnormal reflex	10943	MSL3	OMIM:301032
HP:0031826	Abnormal reflex	3798	KIF5A	ORPHA:100991
HP:0031826	Abnormal reflex	54903	MKS1	OMIM:617121
HP:0031826	Abnormal reflex	8295	TRRAP	OMIM:618454
HP:0031826	Abnormal reflex	84842	HPDL	OMIM:619027
HP:0031826	Abnormal reflex	11338	U2AF2	OMIM:620535
HP:0031826	Abnormal reflex	2752	GLUL	OMIM:610015
HP:0031826	Abnormal reflex	267	AMFR	OMIM:620379
HP:0031826	Abnormal reflex	63895	PIEZO2	OMIM:248700
HP:0031826	Abnormal reflex	8818	DPM2	OMIM:615042
HP:0031826	Abnormal reflex	7305	TYROBP	OMIM:221770
HP:0031826	Abnormal reflex	6487	ST3GAL3	OMIM:615006
HP:0031826	Abnormal reflex	22931	RAB18	OMIM:614222
HP:0031826	Abnormal reflex	3032	HADHB	ORPHA:746
HP:0031826	Abnormal reflex	3030	HADHA	ORPHA:746
HP:0031826	Abnormal reflex	4618	MYF6	ORPHA:169189
HP:0031826	Abnormal reflex	6548	SLC9A1	OMIM:616291
HP:0031826	Abnormal reflex	8557	TCAP	OMIM:601954
HP:0031826	Abnormal reflex	8884	SLC5A6	OMIM:619903
HP:0031826	Abnormal reflex	84876	ORAI1	OMIM:615883
HP:0031826	Abnormal reflex	374393	FAM111B	OMIM:615704
HP:0031826	Abnormal reflex	3710	ITPR3	OMIM:620111
HP:0031826	Abnormal reflex	25923	ATL3	OMIM:615632
HP:0031826	Abnormal reflex	1674	DES	OMIM:601419
HP:0031826	Abnormal reflex	9517	SPTLC2	OMIM:613640
HP:0031826	Abnormal reflex	22868	FASTKD2	OMIM:618855
HP:0031826	Abnormal reflex	6786	STIM1	OMIM:160565
HP:0031826	Abnormal reflex	11155	LDB3	OMIM:609452
HP:0031826	Abnormal reflex	10020	GNE	ORPHA:602
HP:0031826	Abnormal reflex	84342	COG8	OMIM:611182
HP:0031826	Abnormal reflex	8560	DEGS1	OMIM:618404
HP:0031826	Abnormal reflex	492	ATP2B3	ORPHA:314978
HP:0031826	Abnormal reflex	51604	PIGT	OMIM:615398
HP:0031826	Abnormal reflex	23474	ETHE1	OMIM:602473
HP:0031826	Abnormal reflex	2395	FXN	OMIM:229300
HP:0031826	Abnormal reflex	2395	FXN	ORPHA:95
HP:0031826	Abnormal reflex	9725	TMEM63A	OMIM:618688
HP:0031826	Abnormal reflex	5610	EIF2AK2	OMIM:619687
HP:0031826	Abnormal reflex	5611	DNAJC3	OMIM:616192
HP:0031826	Abnormal reflex	5611	DNAJC3	ORPHA:445062
HP:0031826	Abnormal reflex	5375	PMP2	OMIM:618279
HP:0031826	Abnormal reflex	3739	KCNA4	OMIM:618284
HP:0031826	Abnormal reflex	124454	EARS2	OMIM:614924
HP:0031826	Abnormal reflex	54936	ADPRS	OMIM:618170
HP:0031826	Abnormal reflex	116228	COX20	OMIM:619054
HP:0031826	Abnormal reflex	100303755	PET117	OMIM:619063
HP:0031826	Abnormal reflex	144165	PRICKLE1	OMIM:612437
HP:0031826	Abnormal reflex	2258	FGF13	OMIM:301058
HP:0031826	Abnormal reflex	9150	CTDP1	OMIM:604168
HP:0031826	Abnormal reflex	128637	TBC1D20	OMIM:615663
HP:0031826	Abnormal reflex	283989	TSEN54	ORPHA:2524
HP:0031826	Abnormal reflex	79042	TSEN34	ORPHA:2524
HP:0031826	Abnormal reflex	9373	PLAA	OMIM:617527
HP:0031826	Abnormal reflex	6392	SDHD	ORPHA:3208
HP:0031826	Abnormal reflex	644096	SDHAF1	ORPHA:3208
HP:0031826	Abnormal reflex	131669	UROC1	ORPHA:210128
HP:0031826	Abnormal reflex	8492	PRSS12	OMIM:249500
HP:0031826	Abnormal reflex	4081	MAB21L1	OMIM:618479
HP:0031826	Abnormal reflex	112476	PRRT2	ORPHA:98811
HP:0031826	Abnormal reflex	5700	PSMC1	OMIM:620071
HP:0031826	Abnormal reflex	55958	KLHL9	ORPHA:399081
HP:0031826	Abnormal reflex	3977	LIFR	OMIM:601559
HP:0031826	Abnormal reflex	3977	LIFR	ORPHA:3206
HP:0031826	Abnormal reflex	8988	HSPB3	OMIM:613376
HP:0031826	Abnormal reflex	1938	EEF2	ORPHA:101112
HP:0031826	Abnormal reflex	8604	SLC25A12	OMIM:612949
HP:0031826	Abnormal reflex	23769	FLRT1	ORPHA:320406
HP:0031826	Abnormal reflex	64837	KLC2	ORPHA:320406
HP:0031826	Abnormal reflex	64837	KLC2	OMIM:609541
HP:0031826	Abnormal reflex	4841	NONO	ORPHA:466791
HP:0031826	Abnormal reflex	1327	COX4I1	OMIM:619060
HP:0031826	Abnormal reflex	23204	ARL6IP1	OMIM:615685
HP:0031826	Abnormal reflex	23204	ARL6IP1	ORPHA:401780
HP:0031826	Abnormal reflex	81545	FBXO38	OMIM:615575
HP:0031826	Abnormal reflex	5165	PDK3	OMIM:300905
HP:0031826	Abnormal reflex	9338	TCEAL1	OMIM:301094
HP:0031826	Abnormal reflex	9900	SV2A	OMIM:620772
HP:0031826	Abnormal reflex	10079	ATP9A	OMIM:620242
HP:0031826	Abnormal reflex	7504	XK	OMIM:300842
HP:0031826	Abnormal reflex	10381	TUBB3	ORPHA:300570
HP:0031826	Abnormal reflex	487	ATP2A1	OMIM:601003
HP:0031826	Abnormal reflex	80347	COASY	OMIM:615643
HP:0031826	Abnormal reflex	11152	WDR45	OMIM:300894
HP:0031826	Abnormal reflex	4897	NRCAM	OMIM:619833
HP:0031826	Abnormal reflex	11280	SCN11A	ORPHA:90026
HP:0031826	Abnormal reflex	6336	SCN10A	ORPHA:90026
HP:0031828	Abnormal superficial reflex	10749	KIF1C	ORPHA:397946
HP:0031828	Abnormal superficial reflex	10749	KIF1C	OMIM:611302
HP:0031828	Abnormal superficial reflex	85465	SELENOI	ORPHA:506353
HP:0031828	Abnormal superficial reflex	85465	SELENOI	OMIM:618768
HP:0031828	Abnormal superficial reflex	3064	HTT	ORPHA:399
HP:0031828	Abnormal superficial reflex	6515	SLC2A3	ORPHA:399
HP:0031828	Abnormal superficial reflex	4287	ATXN3	OMIM:109150
HP:0031828	Abnormal superficial reflex	4287	ATXN3	ORPHA:276238
HP:0031828	Abnormal superficial reflex	4287	ATXN3	ORPHA:276244
HP:0031828	Abnormal superficial reflex	4287	ATXN3	ORPHA:276241
HP:0031828	Abnormal superficial reflex	26235	FBXL4	OMIM:615471
HP:0031828	Abnormal superficial reflex	4099	MAG	OMIM:616680
HP:0031828	Abnormal superficial reflex	4099	MAG	ORPHA:459056
HP:0031828	Abnormal superficial reflex	10159	ATP6AP2	OMIM:300911
HP:0031828	Abnormal superficial reflex	10159	ATP6AP2	ORPHA:93952
HP:0031828	Abnormal superficial reflex	10159	ATP6AP2	OMIM:300423
HP:0031828	Abnormal superficial reflex	10159	ATP6AP2	ORPHA:363654
HP:0031828	Abnormal superficial reflex	9853	RUSC2	OMIM:617773
HP:0031828	Abnormal superficial reflex	27247	NFU1	OMIM:620938
HP:0031828	Abnormal superficial reflex	23446	SLC44A1	OMIM:618868
HP:0031828	Abnormal superficial reflex	6873	TAF2	OMIM:615599
HP:0031828	Abnormal superficial reflex	6873	TAF2	ORPHA:397951
HP:0031828	Abnormal superficial reflex	3145	HMBS	OMIM:620704
HP:0031828	Abnormal superficial reflex	2895	GRID2	OMIM:616204
HP:0031828	Abnormal superficial reflex	22880	MORC2	OMIM:616688
HP:0031828	Abnormal superficial reflex	22880	MORC2	OMIM:619090
HP:0031828	Abnormal superficial reflex	22880	MORC2	ORPHA:466768
HP:0031828	Abnormal superficial reflex	1786	DNMT1	ORPHA:314404
HP:0031828	Abnormal superficial reflex	6687	SPG7	ORPHA:99013
HP:0031828	Abnormal superficial reflex	6687	SPG7	OMIM:607259
HP:0031828	Abnormal superficial reflex	6687	SPG7	ORPHA:35689
HP:0031828	Abnormal superficial reflex	5354	PLP1	ORPHA:99015
HP:0031828	Abnormal superficial reflex	5354	PLP1	ORPHA:280229
HP:0031828	Abnormal superficial reflex	5354	PLP1	OMIM:312920
HP:0031828	Abnormal superficial reflex	57165	GJC2	OMIM:608804
HP:0031828	Abnormal superficial reflex	57165	GJC2	OMIM:613206
HP:0031828	Abnormal superficial reflex	10908	PNPLA6	ORPHA:139480
HP:0031828	Abnormal superficial reflex	10908	PNPLA6	OMIM:215470
HP:0031828	Abnormal superficial reflex	10908	PNPLA6	OMIM:612020
HP:0031828	Abnormal superficial reflex	8722	CTSF	OMIM:615362
HP:0031828	Abnormal superficial reflex	1644	DDC	ORPHA:35708
HP:0031828	Abnormal superficial reflex	1644	DDC	OMIM:608643
HP:0031828	Abnormal superficial reflex	200205	IBA57	OMIM:616451
HP:0031828	Abnormal superficial reflex	200205	IBA57	ORPHA:468661
HP:0031828	Abnormal superficial reflex	10528	NOP56	OMIM:614153
HP:0031828	Abnormal superficial reflex	10528	NOP56	ORPHA:276198
HP:0031828	Abnormal superficial reflex	1841	DTYMK	OMIM:619847
HP:0031828	Abnormal superficial reflex	2670	GFAP	OMIM:203450
HP:0031828	Abnormal superficial reflex	2670	GFAP	ORPHA:363722
HP:0031828	Abnormal superficial reflex	57156	TMEM63C	OMIM:619966
HP:0031828	Abnormal superficial reflex	57231	SNX14	ORPHA:397709
HP:0031828	Abnormal superficial reflex	57231	SNX14	OMIM:616354
HP:0031828	Abnormal superficial reflex	23400	ATP13A2	ORPHA:314632
HP:0031828	Abnormal superficial reflex	23400	ATP13A2	OMIM:617225
HP:0031828	Abnormal superficial reflex	23400	ATP13A2	ORPHA:513436
HP:0031828	Abnormal superficial reflex	23400	ATP13A2	ORPHA:306674
HP:0031828	Abnormal superficial reflex	23400	ATP13A2	OMIM:606693
HP:0031828	Abnormal superficial reflex	410	ARSA	ORPHA:309271
HP:0031828	Abnormal superficial reflex	410	ARSA	ORPHA:309263
HP:0031828	Abnormal superficial reflex	410	ARSA	OMIM:250100
HP:0031828	Abnormal superficial reflex	410	ARSA	ORPHA:309256
HP:0031828	Abnormal superficial reflex	5660	PSAP	ORPHA:309271
HP:0031828	Abnormal superficial reflex	5660	PSAP	ORPHA:309263
HP:0031828	Abnormal superficial reflex	5660	PSAP	OMIM:611721
HP:0031828	Abnormal superficial reflex	5660	PSAP	ORPHA:309256
HP:0031828	Abnormal superficial reflex	5660	PSAP	OMIM:249900
HP:0031828	Abnormal superficial reflex	219285	SAMD9L	OMIM:159550
HP:0031828	Abnormal superficial reflex	219285	SAMD9L	OMIM:619806
HP:0031828	Abnormal superficial reflex	9289	ADGRG1	OMIM:606854
HP:0031828	Abnormal superficial reflex	348	APOE	OMIM:607822
HP:0031828	Abnormal superficial reflex	5663	PSEN1	OMIM:607822
HP:0031828	Abnormal superficial reflex	7345	UCHL1	OMIM:615491
HP:0031828	Abnormal superficial reflex	5832	ALDH18A1	OMIM:616586
HP:0031828	Abnormal superficial reflex	5832	ALDH18A1	OMIM:601162
HP:0031828	Abnormal superficial reflex	5832	ALDH18A1	ORPHA:447757
HP:0031828	Abnormal superficial reflex	5832	ALDH18A1	ORPHA:447753
HP:0031828	Abnormal superficial reflex	5832	ALDH18A1	ORPHA:447760
HP:0031828	Abnormal superficial reflex	215	ABCD1	ORPHA:139399
HP:0031828	Abnormal superficial reflex	64834	ELOVL1	OMIM:618527
HP:0031828	Abnormal superficial reflex	51308	REEP2	OMIM:620606
HP:0031828	Abnormal superficial reflex	51308	REEP2	OMIM:615625
HP:0031828	Abnormal superficial reflex	311	ANXA11	OMIM:619733
HP:0031828	Abnormal superficial reflex	311	ANXA11	ORPHA:803
HP:0031828	Abnormal superficial reflex	7920	ABHD16A	OMIM:619735
HP:0031828	Abnormal superficial reflex	8560	DEGS1	OMIM:618404
HP:0031828	Abnormal superficial reflex	2074	ERCC6	OMIM:278800
HP:0031828	Abnormal superficial reflex	343641	TGM6	ORPHA:276193
HP:0031828	Abnormal superficial reflex	343641	TGM6	OMIM:613908
HP:0031828	Abnormal superficial reflex	857	CAV1	OMIM:606721
HP:0031828	Abnormal superficial reflex	55149	MTPAP	ORPHA:254343
HP:0031828	Abnormal superficial reflex	55149	MTPAP	OMIM:613672
HP:0031828	Abnormal superficial reflex	5297	PI4KA	OMIM:619621
HP:0031828	Abnormal superficial reflex	55703	POLR3B	OMIM:619742
HP:0031828	Abnormal superficial reflex	55703	POLR3B	OMIM:607694
HP:0031828	Abnormal superficial reflex	83636	C19orf12	OMIM:614298
HP:0031828	Abnormal superficial reflex	83636	C19orf12	OMIM:615043
HP:0031828	Abnormal superficial reflex	5833	PCYT2	OMIM:618770
HP:0031828	Abnormal superficial reflex	246243	RNASEH1	OMIM:616479
HP:0031828	Abnormal superficial reflex	51271	UBAP1	OMIM:618418
HP:0031828	Abnormal superficial reflex	51271	UBAP1	ORPHA:100993
HP:0031828	Abnormal superficial reflex	492	ATP2B3	ORPHA:314978
HP:0031828	Abnormal superficial reflex	9897	WASHC5	OMIM:603563
HP:0031828	Abnormal superficial reflex	9897	WASHC5	ORPHA:100989
HP:0031828	Abnormal superficial reflex	113612	CYP2U1	OMIM:615030
HP:0031828	Abnormal superficial reflex	113612	CYP2U1	ORPHA:320411
HP:0031828	Abnormal superficial reflex	10717	AP4B1	OMIM:614066
HP:0031828	Abnormal superficial reflex	10717	AP4B1	ORPHA:280763
HP:0031828	Abnormal superficial reflex	91574	MTRFR	OMIM:615035
HP:0031828	Abnormal superficial reflex	91574	MTRFR	ORPHA:320375
HP:0031828	Abnormal superficial reflex	51604	PIGT	OMIM:615398
HP:0031828	Abnormal superficial reflex	11154	AP4S1	OMIM:614067
HP:0031828	Abnormal superficial reflex	11154	AP4S1	ORPHA:280763
HP:0031828	Abnormal superficial reflex	23259	DDHD2	OMIM:615033
HP:0031828	Abnormal superficial reflex	54902	TTC19	OMIM:615157
HP:0031828	Abnormal superficial reflex	391356	PTRHD1	OMIM:620747
HP:0031828	Abnormal superficial reflex	4191	MDH2	OMIM:617339
HP:0031828	Abnormal superficial reflex	23474	ETHE1	OMIM:602473
HP:0031828	Abnormal superficial reflex	1615	DARS1	OMIM:615281
HP:0031828	Abnormal superficial reflex	7358	UGDH	OMIM:618792
HP:0031828	Abnormal superficial reflex	9474	ATG5	OMIM:617584
HP:0031828	Abnormal superficial reflex	6506	SLC1A2	OMIM:617105
HP:0031828	Abnormal superficial reflex	25973	PARS2	OMIM:618437
HP:0031828	Abnormal superficial reflex	11160	ERLIN2	OMIM:620512
HP:0031828	Abnormal superficial reflex	11160	ERLIN2	ORPHA:209951
HP:0031828	Abnormal superficial reflex	11160	ERLIN2	OMIM:611225
HP:0031828	Abnormal superficial reflex	11261	CHP1	OMIM:618438
HP:0031828	Abnormal superficial reflex	10667	FARS2	ORPHA:466722
HP:0031828	Abnormal superficial reflex	10667	FARS2	OMIM:617046
HP:0031828	Abnormal superficial reflex	56652	TWNK	OMIM:271245
HP:0031828	Abnormal superficial reflex	56652	TWNK	OMIM:607459
HP:0031828	Abnormal superficial reflex	10280	SIGMAR1	OMIM:605726
HP:0031828	Abnormal superficial reflex	23299	BICD2	OMIM:615290
HP:0031828	Abnormal superficial reflex	5981	RFC1	ORPHA:504476
HP:0031828	Abnormal superficial reflex	5917	RARS1	OMIM:616140
HP:0031828	Abnormal superficial reflex	339855	KY	ORPHA:496689
HP:0031828	Abnormal superficial reflex	2395	FXN	OMIM:229300
HP:0031828	Abnormal superficial reflex	2395	FXN	ORPHA:95
HP:0031828	Abnormal superficial reflex	57679	ALS2	OMIM:205100
HP:0031828	Abnormal superficial reflex	57679	ALS2	OMIM:607225
HP:0031828	Abnormal superficial reflex	57679	ALS2	OMIM:606353
HP:0031828	Abnormal superficial reflex	6709	SPTAN1	OMIM:620528
HP:0031828	Abnormal superficial reflex	6709	SPTAN1	OMIM:620538
HP:0031828	Abnormal superficial reflex	9725	TMEM63A	OMIM:618688
HP:0031828	Abnormal superficial reflex	10229	COQ7	OMIM:620402
HP:0031828	Abnormal superficial reflex	6683	SPAST	OMIM:182601
HP:0031828	Abnormal superficial reflex	6683	SPAST	ORPHA:100985
HP:0031828	Abnormal superficial reflex	51062	ATL1	OMIM:182600
HP:0031828	Abnormal superficial reflex	51062	ATL1	ORPHA:100984
HP:0031828	Abnormal superficial reflex	6843	VAMP1	ORPHA:251282
HP:0031828	Abnormal superficial reflex	57192	MCOLN1	OMIM:252650
HP:0031828	Abnormal superficial reflex	5654	HTRA1	OMIM:600142
HP:0031828	Abnormal superficial reflex	2512	FTL	ORPHA:157846
HP:0031828	Abnormal superficial reflex	2512	FTL	OMIM:606159
HP:0031828	Abnormal superficial reflex	54344	DPM3	ORPHA:263494
HP:0031828	Abnormal superficial reflex	3658	IREB2	OMIM:618451
HP:0031828	Abnormal superficial reflex	55280	CWF19L1	ORPHA:453521
HP:0031828	Abnormal superficial reflex	2583	B4GALNT1	OMIM:609195
HP:0031828	Abnormal superficial reflex	2583	B4GALNT1	ORPHA:101006
HP:0031828	Abnormal superficial reflex	5277	PIGA	OMIM:301072
HP:0031828	Abnormal superficial reflex	5277	PIGA	OMIM:300868
HP:0031828	Abnormal superficial reflex	4001	LMNB1	ORPHA:99027
HP:0031828	Abnormal superficial reflex	4001	LMNB1	OMIM:169500
HP:0031828	Abnormal superficial reflex	23064	SETX	OMIM:602433
HP:0031828	Abnormal superficial reflex	23064	SETX	ORPHA:64753
HP:0031828	Abnormal superficial reflex	23064	SETX	ORPHA:357043
HP:0031828	Abnormal superficial reflex	23111	SPART	OMIM:275900
HP:0031828	Abnormal superficial reflex	23111	SPART	ORPHA:101000
HP:0031828	Abnormal superficial reflex	126129	CPT1C	OMIM:616282
HP:0031828	Abnormal superficial reflex	126129	CPT1C	ORPHA:444099
HP:0031828	Abnormal superficial reflex	23516	SLC39A14	OMIM:617013
HP:0031828	Abnormal superficial reflex	23516	SLC39A14	ORPHA:521406
HP:0031828	Abnormal superficial reflex	23345	SYNE1	ORPHA:88644
HP:0031828	Abnormal superficial reflex	4719	NDUFS1	OMIM:618226
HP:0031828	Abnormal superficial reflex	4508	MT-ATP6	ORPHA:320360
HP:0031828	Abnormal superficial reflex	4508	MT-ATP6	ORPHA:225154
HP:0031828	Abnormal superficial reflex	4508	MT-ATP6	ORPHA:644
HP:0031828	Abnormal superficial reflex	51117	COQ4	OMIM:620666
HP:0031828	Abnormal superficial reflex	7443	VRK1	OMIM:620542
HP:0031828	Abnormal superficial reflex	5428	POLG	OMIM:258450
HP:0031828	Abnormal superficial reflex	5428	POLG	OMIM:607459
HP:0031828	Abnormal superficial reflex	9256	TSPOAP1	ORPHA:101150
HP:0031828	Abnormal superficial reflex	9256	TSPOAP1	OMIM:620456
HP:0031828	Abnormal superficial reflex	7054	TH	ORPHA:101150
HP:0031828	Abnormal superficial reflex	27235	COQ2	OMIM:146500
HP:0031828	Abnormal superficial reflex	123606	NIPA1	OMIM:600363
HP:0031828	Abnormal superficial reflex	123606	NIPA1	ORPHA:100988
HP:0031828	Abnormal superficial reflex	5631	PRPS1	ORPHA:423479
HP:0031828	Abnormal superficial reflex	6567	SLC16A2	OMIM:300523
HP:0031828	Abnormal superficial reflex	6567	SLC16A2	ORPHA:59
HP:0031828	Abnormal superficial reflex	81790	RNF170	OMIM:619686
HP:0031828	Abnormal superficial reflex	81790	RNF170	OMIM:608984
HP:0031828	Abnormal superficial reflex	23114	NFASC	OMIM:618356
HP:0031828	Abnormal superficial reflex	5610	EIF2AK2	OMIM:619687
HP:0031828	Abnormal superficial reflex	6647	SOD1	OMIM:618598
HP:0031828	Abnormal superficial reflex	6647	SOD1	ORPHA:803
HP:0031828	Abnormal superficial reflex	25814	ATXN10	OMIM:603516
HP:0031828	Abnormal superficial reflex	25814	ATXN10	ORPHA:98761
HP:0031828	Abnormal superficial reflex	116461	TSEN15	OMIM:617026
HP:0031828	Abnormal superficial reflex	116461	TSEN15	ORPHA:2524
HP:0031828	Abnormal superficial reflex	8492	PRSS12	OMIM:249500
HP:0031828	Abnormal superficial reflex	443	ASPA	ORPHA:314918
HP:0031828	Abnormal superficial reflex	443	ASPA	ORPHA:314911
HP:0031828	Abnormal superficial reflex	157922	CAMSAP1	OMIM:620316
HP:0031828	Abnormal superficial reflex	5010	CLDN11	OMIM:619328
HP:0031828	Abnormal superficial reflex	2581	GALC	ORPHA:206448
HP:0031828	Abnormal superficial reflex	25885	POLR1A	OMIM:620675
HP:0031828	Abnormal superficial reflex	9179	AP4M1	OMIM:612936
HP:0031828	Abnormal superficial reflex	9179	AP4M1	ORPHA:280763
HP:0031828	Abnormal superficial reflex	16	AARS1	OMIM:619691
HP:0031828	Abnormal superficial reflex	547	KIF1A	ORPHA:101010
HP:0031828	Abnormal superficial reflex	547	KIF1A	OMIM:610357
HP:0031828	Abnormal superficial reflex	547	KIF1A	OMIM:614255
HP:0031828	Abnormal superficial reflex	5071	PRKN	OMIM:600116
HP:0031828	Abnormal superficial reflex	84340	GFM2	ORPHA:565624
HP:0031828	Abnormal superficial reflex	84340	GFM2	OMIM:618397
HP:0031828	Abnormal superficial reflex	8878	SQSTM1	OMIM:617158
HP:0031828	Abnormal superficial reflex	8878	SQSTM1	ORPHA:275872
HP:0031828	Abnormal superficial reflex	8878	SQSTM1	ORPHA:803
HP:0031828	Abnormal superficial reflex	4125	MAN2B1	OMIM:248500
HP:0031828	Abnormal superficial reflex	80224	NUBPL	OMIM:618242
HP:0031828	Abnormal superficial reflex	4547	MTTP	ORPHA:14
HP:0031828	Abnormal superficial reflex	51102	MECR	OMIM:617282
HP:0031828	Abnormal superficial reflex	5611	DNAJC3	OMIM:616192
HP:0031828	Abnormal superficial reflex	5611	DNAJC3	ORPHA:445062
HP:0031828	Abnormal superficial reflex	463	ZFHX3	OMIM:600223
HP:0031828	Abnormal superficial reflex	80821	DDHD1	ORPHA:101008
HP:0031828	Abnormal superficial reflex	80821	DDHD1	OMIM:609340
HP:0031828	Abnormal superficial reflex	2705	GJB1	OMIM:302800
HP:0031828	Abnormal superficial reflex	2705	GJB1	ORPHA:1175
HP:0031828	Abnormal superficial reflex	1200	TPP1	OMIM:609270
HP:0031828	Abnormal superficial reflex	1200	TPP1	ORPHA:284324
HP:0031828	Abnormal superficial reflex	84668	HYCC1	OMIM:610532
HP:0031828	Abnormal superficial reflex	29967	LRP12	OMIM:620452
HP:0031828	Abnormal superficial reflex	87178	PNPT1	ORPHA:101111
HP:0031828	Abnormal superficial reflex	87178	PNPT1	OMIM:608703
HP:0031828	Abnormal superficial reflex	1938	EEF2	ORPHA:101112
HP:0031828	Abnormal superficial reflex	9197	SLC33A1	ORPHA:171863
HP:0031828	Abnormal superficial reflex	9197	SLC33A1	OMIM:612539
HP:0031828	Abnormal superficial reflex	2892	GRIA3	ORPHA:364028
HP:0031828	Abnormal superficial reflex	26580	BSCL2	OMIM:619112
HP:0031828	Abnormal superficial reflex	26580	BSCL2	OMIM:270685
HP:0031828	Abnormal superficial reflex	26580	BSCL2	ORPHA:100998
HP:0031828	Abnormal superficial reflex	9927	MFN2	OMIM:609260
HP:0031828	Abnormal superficial reflex	9927	MFN2	ORPHA:99947
HP:0031828	Abnormal superficial reflex	3839	KPNA3	OMIM:620106
HP:0031828	Abnormal superficial reflex	3839	KPNA3	ORPHA:171612
HP:0031828	Abnormal superficial reflex	538	ATP7A	OMIM:309400
HP:0031828	Abnormal superficial reflex	3032	HADHB	ORPHA:746
HP:0031828	Abnormal superficial reflex	3030	HADHA	ORPHA:746
HP:0031828	Abnormal superficial reflex	22978	NT5C2	ORPHA:320396
HP:0031828	Abnormal superficial reflex	22978	NT5C2	OMIM:613162
HP:0031828	Abnormal superficial reflex	5375	PMP2	OMIM:618279
HP:0031828	Abnormal superficial reflex	6472	SHMT2	OMIM:619121
HP:0031828	Abnormal superficial reflex	6253	RTN2	OMIM:604805
HP:0031828	Abnormal superficial reflex	6253	RTN2	ORPHA:100993
HP:0031828	Abnormal superficial reflex	5173	PDYN	ORPHA:101108
HP:0031828	Abnormal superficial reflex	5173	PDYN	OMIM:610245
HP:0031828	Abnormal superficial reflex	10939	AFG3L2	ORPHA:101109
HP:0031828	Abnormal superficial reflex	10939	AFG3L2	OMIM:610246
HP:0031828	Abnormal superficial reflex	79152	FA2H	ORPHA:171629
HP:0031828	Abnormal superficial reflex	79152	FA2H	OMIM:612319
HP:0031828	Abnormal superficial reflex	57704	GBA2	ORPHA:320391
HP:0031828	Abnormal superficial reflex	57704	GBA2	OMIM:614409
HP:0031828	Abnormal superficial reflex	57704	GBA2	ORPHA:352641
HP:0031828	Abnormal superficial reflex	26278	SACS	OMIM:270550
HP:0031828	Abnormal superficial reflex	26278	SACS	ORPHA:98
HP:0031828	Abnormal superficial reflex	25978	CHMP2B	OMIM:600795
HP:0031828	Abnormal superficial reflex	25978	CHMP2B	ORPHA:803
HP:0031828	Abnormal superficial reflex	23636	NUP62	ORPHA:225154
HP:0031828	Abnormal superficial reflex	53371	NUP54	ORPHA:225154
HP:0031828	Abnormal superficial reflex	103	ADAR	ORPHA:225154
HP:0031828	Abnormal superficial reflex	6389	SDHA	OMIM:619259
HP:0031828	Abnormal superficial reflex	6389	SDHA	ORPHA:3208
HP:0031828	Abnormal superficial reflex	6389	SDHA	OMIM:252011
HP:0031828	Abnormal superficial reflex	3739	KCNA4	OMIM:618284
HP:0031828	Abnormal superficial reflex	7415	VCP	OMIM:613954
HP:0031828	Abnormal superficial reflex	7415	VCP	ORPHA:275872
HP:0031828	Abnormal superficial reflex	7415	VCP	ORPHA:329475
HP:0031828	Abnormal superficial reflex	7415	VCP	ORPHA:803
HP:0031828	Abnormal superficial reflex	124454	EARS2	OMIM:614924
HP:0031828	Abnormal superficial reflex	8139	GAN	ORPHA:643
HP:0031828	Abnormal superficial reflex	54936	ADPRS	OMIM:618170
HP:0031828	Abnormal superficial reflex	1678	TIMM8A	ORPHA:52368
HP:0031828	Abnormal superficial reflex	84842	HPDL	OMIM:619027
HP:0031828	Abnormal superficial reflex	25793	FBXO7	OMIM:260300
HP:0031828	Abnormal superficial reflex	25793	FBXO7	ORPHA:171695
HP:0031828	Abnormal superficial reflex	8398	PLA2G6	OMIM:610217
HP:0031828	Abnormal superficial reflex	55129	ANO10	OMIM:613728
HP:0031828	Abnormal superficial reflex	5621	PRNP	ORPHA:282166
HP:0031828	Abnormal superficial reflex	2643	GCH1	OMIM:128230
HP:0031828	Abnormal superficial reflex	2643	GCH1	ORPHA:98808
HP:0031828	Abnormal superficial reflex	9131	AIFM1	OMIM:300232
HP:0031828	Abnormal superficial reflex	9131	AIFM1	ORPHA:83629
HP:0031828	Abnormal superficial reflex	8506	CNTNAP1	OMIM:618186
HP:0031828	Abnormal superficial reflex	400916	CHCHD10	OMIM:615911
HP:0031828	Abnormal superficial reflex	400916	CHCHD10	ORPHA:275872
HP:0031828	Abnormal superficial reflex	400916	CHCHD10	ORPHA:803
HP:0031828	Abnormal superficial reflex	1593	CYP27A1	OMIM:213700
HP:0031828	Abnormal superficial reflex	1593	CYP27A1	ORPHA:909
HP:0031828	Abnormal superficial reflex	2521	FUS	ORPHA:275872
HP:0031828	Abnormal superficial reflex	2521	FUS	ORPHA:803
HP:0031828	Abnormal superficial reflex	23435	TARDBP	ORPHA:275872
HP:0031828	Abnormal superficial reflex	23435	TARDBP	ORPHA:803
HP:0031828	Abnormal superficial reflex	23435	TARDBP	OMIM:612069
HP:0031828	Abnormal superficial reflex	29110	TBK1	ORPHA:275872
HP:0031828	Abnormal superficial reflex	29110	TBK1	ORPHA:803
HP:0031828	Abnormal superficial reflex	54209	TREM2	OMIM:618193
HP:0031828	Abnormal superficial reflex	54209	TREM2	ORPHA:803
HP:0031828	Abnormal superficial reflex	51218	GLRX5	ORPHA:401866
HP:0031828	Abnormal superficial reflex	51218	GLRX5	OMIM:616859
HP:0031828	Abnormal superficial reflex	51506	UFC1	OMIM:618076
HP:0031828	Abnormal superficial reflex	6311	ATXN2	OMIM:183090
HP:0031828	Abnormal superficial reflex	6311	ATXN2	ORPHA:803
HP:0031828	Abnormal superficial reflex	80055	PGAP1	OMIM:615802
HP:0031828	Abnormal superficial reflex	80055	PGAP1	ORPHA:401820
HP:0031828	Abnormal superficial reflex	23431	AP4E1	OMIM:613744
HP:0031828	Abnormal superficial reflex	23431	AP4E1	ORPHA:280763
HP:0031828	Abnormal superficial reflex	25778	DSTYK	OMIM:270750
HP:0031828	Abnormal superficial reflex	51324	SPG21	OMIM:248900
HP:0031828	Abnormal superficial reflex	116228	COX20	OMIM:619054
HP:0031828	Abnormal superficial reflex	64207	IRF2BPL	OMIM:618088
HP:0031828	Abnormal superficial reflex	55157	DARS2	ORPHA:137898
HP:0031828	Abnormal superficial reflex	55157	DARS2	OMIM:611105
HP:0031828	Abnormal superficial reflex	823	CAPN1	OMIM:616907
HP:0031828	Abnormal superficial reflex	823	CAPN1	ORPHA:488594
HP:0031828	Abnormal superficial reflex	10273	STUB1	OMIM:618093
HP:0031828	Abnormal superficial reflex	10273	STUB1	OMIM:615768
HP:0031828	Abnormal superficial reflex	22	ABCB7	OMIM:301310
HP:0031828	Abnormal superficial reflex	100303755	PET117	OMIM:619063
HP:0031828	Abnormal superficial reflex	7274	TTPA	ORPHA:96
HP:0031828	Abnormal superficial reflex	4697	NDUFA4	OMIM:619065
HP:0031828	Abnormal superficial reflex	65055	REEP1	OMIM:610250
HP:0031828	Abnormal superficial reflex	26090	ABHD12	OMIM:612674
HP:0031828	Abnormal superficial reflex	144165	PRICKLE1	OMIM:612437
HP:0031828	Abnormal superficial reflex	5376	PMP22	ORPHA:3115
HP:0031828	Abnormal superficial reflex	4359	MPZ	ORPHA:3115
HP:0031828	Abnormal superficial reflex	1267	CNP	OMIM:619071
HP:0031828	Abnormal superficial reflex	23533	PIK3R5	ORPHA:64753
HP:0031828	Abnormal superficial reflex	4744	NEFH	OMIM:616924
HP:0031828	Abnormal superficial reflex	4744	NEFH	ORPHA:803
HP:0031828	Abnormal superficial reflex	90624	LYRM7	OMIM:615838
HP:0031828	Abnormal superficial reflex	1282	COL4A1	OMIM:175780
HP:0031828	Abnormal superficial reflex	64837	KLC2	OMIM:609541
HP:0031828	Abnormal superficial reflex	80704	SLC19A3	OMIM:607483
HP:0031828	Abnormal superficial reflex	80025	PANK2	OMIM:234200
HP:0031828	Abnormal superficial reflex	11128	POLR3A	ORPHA:447896
HP:0031828	Abnormal superficial reflex	11128	POLR3A	OMIM:607694
HP:0031828	Abnormal superficial reflex	23503	ZFYVE26	OMIM:270700
HP:0031828	Abnormal superficial reflex	23503	ZFYVE26	ORPHA:100996
HP:0031828	Abnormal superficial reflex	9409	PEX16	OMIM:614877
HP:0031828	Abnormal superficial reflex	773	CACNA1A	ORPHA:98758
HP:0031828	Abnormal superficial reflex	8242	KDM5C	OMIM:300534
HP:0031828	Abnormal superficial reflex	6390	SDHB	ORPHA:3208
HP:0031828	Abnormal superficial reflex	6392	SDHD	ORPHA:3208
HP:0031828	Abnormal superficial reflex	644096	SDHAF1	ORPHA:3208
HP:0031828	Abnormal superficial reflex	3329	HSPD1	OMIM:605280
HP:0031828	Abnormal superficial reflex	3329	HSPD1	ORPHA:100994
HP:0031828	Abnormal superficial reflex	3329	HSPD1	OMIM:612233
HP:0031828	Abnormal superficial reflex	3954	LETM1	OMIM:620089
HP:0031828	Abnormal superficial reflex	4556	MT-TE	ORPHA:2596
HP:0031828	Abnormal superficial reflex	3178	HNRNPA1	ORPHA:803
HP:0031828	Abnormal superficial reflex	8148	TAF15	ORPHA:803
HP:0031828	Abnormal superficial reflex	5445	PON2	ORPHA:803
HP:0031828	Abnormal superficial reflex	9217	VAPB	ORPHA:803
HP:0031828	Abnormal superficial reflex	5630	PRPH	ORPHA:803
HP:0031828	Abnormal superficial reflex	55830	GLT8D1	ORPHA:803
HP:0031828	Abnormal superficial reflex	755	CFAP410	ORPHA:803
HP:0031828	Abnormal superficial reflex	10891	PPARGC1A	ORPHA:803
HP:0031828	Abnormal superficial reflex	10133	OPTN	ORPHA:803
HP:0031828	Abnormal superficial reflex	1639	DCTN1	ORPHA:803
HP:0031828	Abnormal superficial reflex	9896	FIG4	ORPHA:803
HP:0031828	Abnormal superficial reflex	5444	PON1	ORPHA:803
HP:0031828	Abnormal superficial reflex	5446	PON3	ORPHA:803
HP:0031828	Abnormal superficial reflex	5216	PFN1	ORPHA:803
HP:0031828	Abnormal superficial reflex	9782	MATR3	ORPHA:803
HP:0031828	Abnormal superficial reflex	283	ANG	ORPHA:803
HP:0031828	Abnormal superficial reflex	29978	UBQLN2	ORPHA:803
HP:0031828	Abnormal superficial reflex	2733	GLE1	ORPHA:803
HP:0031828	Abnormal superficial reflex	4750	NEK1	ORPHA:803
HP:0031828	Abnormal superficial reflex	1610	DAO	ORPHA:803
HP:0031828	Abnormal superficial reflex	2066	ERBB4	ORPHA:803
HP:0031828	Abnormal superficial reflex	23025	UNC13A	ORPHA:803
HP:0031828	Abnormal superficial reflex	899	CCNF	ORPHA:803
HP:0031828	Abnormal superficial reflex	6314	ATXN7	ORPHA:94147
HP:0031828	Abnormal superficial reflex	6314	ATXN7	OMIM:164500
HP:0031828	Abnormal superficial reflex	3798	KIF5A	ORPHA:100991
HP:0031828	Abnormal superficial reflex	3798	KIF5A	OMIM:604187
HP:0031828	Abnormal superficial reflex	6622	SNCA	ORPHA:171695
HP:0031828	Abnormal superficial reflex	80207	OPA3	OMIM:258501
HP:0031828	Abnormal superficial reflex	170302	ARX	OMIM:300419
HP:0031828	Abnormal superficial reflex	1861	TOR1A	OMIM:128100
HP:0031828	Abnormal superficial reflex	4976	OPA1	OMIM:210000
HP:0031828	Abnormal superficial reflex	6310	ATXN1	OMIM:164400
HP:0031828	Abnormal superficial reflex	3736	KCNA1	OMIM:160120
HP:0031828	Abnormal superficial reflex	9420	CYP7B1	ORPHA:100986
HP:0031828	Abnormal superficial reflex	9420	CYP7B1	OMIM:270800
HP:0031828	Abnormal superficial reflex	2258	FGF13	OMIM:301058
HP:0031828	Abnormal superficial reflex	9150	CTDP1	OMIM:604168
HP:0031828	Abnormal superficial reflex	55187	VPS13D	OMIM:607317
HP:0031828	Abnormal superficial reflex	57505	AARS2	OMIM:615889
HP:0031828	Abnormal superficial reflex	84679	SLC9A7	OMIM:301024
HP:0031828	Abnormal superficial reflex	10342	TFG	ORPHA:431329
HP:0031828	Abnormal superficial reflex	10342	TFG	OMIM:615658
HP:0031828	Abnormal superficial reflex	4204	MECP2	OMIM:300055
HP:0031828	Abnormal superficial reflex	51741	WWOX	OMIM:614322
HP:0031828	Abnormal superficial reflex	91137	SLC25A46	OMIM:616505
HP:0031828	Abnormal superficial reflex	54463	RETREG1	OMIM:613115
HP:0031828	Abnormal superficial reflex	80746	TSEN2	OMIM:612389
HP:0031828	Abnormal superficial reflex	80746	TSEN2	ORPHA:2524
HP:0031828	Abnormal superficial reflex	1737	DLAT	ORPHA:79244
HP:0031828	Abnormal superficial reflex	80208	SPG11	OMIM:602099
HP:0031828	Abnormal superficial reflex	80208	SPG11	OMIM:604360
HP:0031828	Abnormal superficial reflex	80208	SPG11	OMIM:616668
HP:0031828	Abnormal superficial reflex	128989	TANGO2	ORPHA:480864
HP:0031828	Abnormal superficial reflex	128989	TANGO2	OMIM:616878
HP:0031828	Abnormal superficial reflex	128637	TBC1D20	OMIM:615663
HP:0031828	Abnormal superficial reflex	58494	JAM2	OMIM:618824
HP:0031828	Abnormal superficial reflex	22948	CCT5	ORPHA:139578
HP:0031828	Abnormal superficial reflex	22948	CCT5	OMIM:256840
HP:0031828	Abnormal superficial reflex	4929	NR4A2	ORPHA:98808
HP:0031828	Abnormal superficial reflex	3615	IMPDH2	ORPHA:98808
HP:0031828	Abnormal superficial reflex	10613	ERLIN1	OMIM:615681
HP:0031828	Abnormal superficial reflex	283989	TSEN54	ORPHA:2524
HP:0031828	Abnormal superficial reflex	79042	TSEN34	ORPHA:2524
HP:0031828	Abnormal superficial reflex	51091	SEPSECS	ORPHA:2524
HP:0031828	Abnormal superficial reflex	271	AMPD2	OMIM:615686
HP:0031828	Abnormal superficial reflex	57570	TRMT5	OMIM:616539
HP:0031828	Abnormal superficial reflex	6509	SLC1A4	OMIM:616657
HP:0031828	Abnormal superficial reflex	9215	LARGE1	OMIM:608840
HP:0031828	Abnormal superficial reflex	51	ACOX1	OMIM:264470
HP:0031828	Abnormal superficial reflex	3708	ITPR1	OMIM:606658
HP:0031828	Abnormal superficial reflex	6513	SLC2A1	OMIM:606777
HP:0031828	Abnormal superficial reflex	8913	CACNA1G	ORPHA:458803
HP:0031828	Abnormal superficial reflex	8913	CACNA1G	OMIM:616795
HP:0031828	Abnormal superficial reflex	29920	PYCR2	OMIM:616420
HP:0031828	Abnormal superficial reflex	22943	DKK1	ORPHA:268882
HP:0031828	Abnormal superficial reflex	4724	NDUFS4	OMIM:252010
HP:0031828	Abnormal superficial reflex	8086	AAAS	OMIM:231550
HP:0031828	Abnormal superficial reflex	51663	ZFR	ORPHA:401840
HP:0031828	Abnormal superficial reflex	84706	GPT2	ORPHA:477673
HP:0031828	Abnormal superficial reflex	1968	EIF2S3	OMIM:300148
HP:0031828	Abnormal superficial reflex	7305	TYROBP	OMIM:221770
HP:0031828	Abnormal superficial reflex	4747	NEFL	OMIM:617882
HP:0031828	Abnormal superficial reflex	221927	BRAT1	OMIM:614498
HP:0031828	Abnormal superficial reflex	54820	NDE1	OMIM:614019
HP:0031828	Abnormal superficial reflex	9373	PLAA	OMIM:617527
HP:0003701	Proximal muscle weakness	6445	SGCG	ORPHA:353
HP:0003701	Proximal muscle weakness	6445	SGCG	OMIM:253700
HP:0003701	Proximal muscle weakness	57190	SELENON	ORPHA:97244
HP:0003701	Proximal muscle weakness	1145	CHRNE	OMIM:608931
HP:0003701	Proximal muscle weakness	1763	DNA2	OMIM:615156
HP:0003701	Proximal muscle weakness	1763	DNA2	ORPHA:352470
HP:0003701	Proximal muscle weakness	5913	RAPSN	OMIM:616326
HP:0003701	Proximal muscle weakness	4593	MUSK	OMIM:616325
HP:0003701	Proximal muscle weakness	84665	MYPN	OMIM:617336
HP:0003701	Proximal muscle weakness	84665	MYPN	ORPHA:171881
HP:0003701	Proximal muscle weakness	203547	VMA21	OMIM:310440
HP:0003701	Proximal muscle weakness	1134	CHRNA1	OMIM:608930
HP:0003701	Proximal muscle weakness	1605	DAG1	OMIM:613818
HP:0003701	Proximal muscle weakness	1605	DAG1	ORPHA:280333
HP:0003701	Proximal muscle weakness	10049	DNAJB6	OMIM:603511
HP:0003701	Proximal muscle weakness	1120	CHKB	OMIM:602541
HP:0003701	Proximal muscle weakness	79048	SECISBP2	ORPHA:171706
HP:0003701	Proximal muscle weakness	9200	HACD1	OMIM:619967
HP:0003701	Proximal muscle weakness	6901	TAFAZZIN	OMIM:302060
HP:0003701	Proximal muscle weakness	10073	SNUPN	OMIM:620793
HP:0003701	Proximal muscle weakness	267010	RNU12	OMIM:620208
HP:0003701	Proximal muscle weakness	1073	CFL2	OMIM:610687
HP:0003701	Proximal muscle weakness	10229	COQ7	OMIM:620402
HP:0003701	Proximal muscle weakness	80324	PUS1	OMIM:600462
HP:0003701	Proximal muscle weakness	529	ATP6V1E1	OMIM:617402
HP:0003701	Proximal muscle weakness	3679	ITGA7	OMIM:613204
HP:0003701	Proximal muscle weakness	3908	LAMA2	OMIM:618138
HP:0003701	Proximal muscle weakness	27145	FILIP1	OMIM:620775
HP:0003701	Proximal muscle weakness	6443	SGCB	ORPHA:119
HP:0003701	Proximal muscle weakness	5255	PHKA1	ORPHA:715
HP:0003701	Proximal muscle weakness	5260	PHKG1	ORPHA:715
HP:0003701	Proximal muscle weakness	59341	TRPV4	OMIM:181405
HP:0003701	Proximal muscle weakness	285489	DOK7	OMIM:254300
HP:0003701	Proximal muscle weakness	2628	GATM	OMIM:612718
HP:0003701	Proximal muscle weakness	1410	CRYAB	OMIM:608810
HP:0003701	Proximal muscle weakness	779	CACNA1S	ORPHA:681
HP:0003701	Proximal muscle weakness	779	CACNA1S	ORPHA:79102
HP:0003701	Proximal muscle weakness	10008	KCNE3	ORPHA:681
HP:0003701	Proximal muscle weakness	100134444	KCNJ18	ORPHA:79102
HP:0003701	Proximal muscle weakness	2556	GABRA3	ORPHA:79102
HP:0003701	Proximal muscle weakness	1674	DES	OMIM:601419
HP:0003701	Proximal muscle weakness	91452	ACBD5	OMIM:618863
HP:0003701	Proximal muscle weakness	9853	RUSC2	OMIM:617773
HP:0003701	Proximal muscle weakness	29925	GMPPB	OMIM:615352
HP:0003701	Proximal muscle weakness	29925	GMPPB	ORPHA:353327
HP:0003701	Proximal muscle weakness	29925	GMPPB	ORPHA:370959
HP:0003701	Proximal muscle weakness	80308	FLAD1	OMIM:255100
HP:0003701	Proximal muscle weakness	7148	TNXB	ORPHA:230839
HP:0003701	Proximal muscle weakness	7148	TNXB	OMIM:606408
HP:0003701	Proximal muscle weakness	22880	MORC2	OMIM:616688
HP:0003701	Proximal muscle weakness	22880	MORC2	OMIM:619090
HP:0003701	Proximal muscle weakness	22880	MORC2	ORPHA:466768
HP:0003701	Proximal muscle weakness	60684	TRAPPC11	OMIM:615356
HP:0003701	Proximal muscle weakness	60684	TRAPPC11	ORPHA:369840
HP:0003701	Proximal muscle weakness	859	CAV3	OMIM:606072
HP:0003701	Proximal muscle weakness	400916	CHCHD10	OMIM:615911
HP:0003701	Proximal muscle weakness	400916	CHCHD10	ORPHA:275872
HP:0003701	Proximal muscle weakness	10973	ASCC3	OMIM:620700
HP:0003701	Proximal muscle weakness	6606	SMN1	OMIM:271150
HP:0003701	Proximal muscle weakness	6606	SMN1	OMIM:253400
HP:0003701	Proximal muscle weakness	4747	NEFL	ORPHA:99939
HP:0003701	Proximal muscle weakness	4747	NEFL	OMIM:617882
HP:0003701	Proximal muscle weakness	8291	DYSF	OMIM:253601
HP:0003701	Proximal muscle weakness	8291	DYSF	OMIM:606768
HP:0003701	Proximal muscle weakness	7138	TNNT1	OMIM:620389
HP:0003701	Proximal muscle weakness	7138	TNNT1	OMIM:620386
HP:0003701	Proximal muscle weakness	2521	FUS	ORPHA:275872
HP:0003701	Proximal muscle weakness	2521	FUS	ORPHA:300605
HP:0003701	Proximal muscle weakness	8878	SQSTM1	ORPHA:275872
HP:0003701	Proximal muscle weakness	7415	VCP	ORPHA:275872
HP:0003701	Proximal muscle weakness	7415	VCP	ORPHA:52430
HP:0003701	Proximal muscle weakness	7415	VCP	ORPHA:329478
HP:0003701	Proximal muscle weakness	7415	VCP	OMIM:167320
HP:0003701	Proximal muscle weakness	7415	VCP	ORPHA:435387
HP:0003701	Proximal muscle weakness	23435	TARDBP	ORPHA:275872
HP:0003701	Proximal muscle weakness	29110	TBK1	ORPHA:275872
HP:0003701	Proximal muscle weakness	9499	MYOT	ORPHA:266
HP:0003701	Proximal muscle weakness	9499	MYOT	OMIM:609200
HP:0003701	Proximal muscle weakness	825	CAPN3	ORPHA:267
HP:0003701	Proximal muscle weakness	825	CAPN3	OMIM:618129
HP:0003701	Proximal muscle weakness	3074	HEXB	ORPHA:309162
HP:0003701	Proximal muscle weakness	54332	GDAP1	OMIM:607831
HP:0003701	Proximal muscle weakness	54332	GDAP1	ORPHA:99944
HP:0003701	Proximal muscle weakness	56704	JPH1	OMIM:607831
HP:0003701	Proximal muscle weakness	375790	AGRN	OMIM:615120
HP:0003701	Proximal muscle weakness	375790	AGRN	ORPHA:98914
HP:0003701	Proximal muscle weakness	7273	TTN	OMIM:608807
HP:0003701	Proximal muscle weakness	7273	TTN	OMIM:603689
HP:0003701	Proximal muscle weakness	7273	TTN	ORPHA:178464
HP:0003701	Proximal muscle weakness	56997	COQ8A	ORPHA:139485
HP:0003701	Proximal muscle weakness	56997	COQ8A	OMIM:612016
HP:0003701	Proximal muscle weakness	101060691	NUTM2B-AS1	OMIM:618637
HP:0003701	Proximal muscle weakness	24142	NAA80	OMIM:620830
HP:0003701	Proximal muscle weakness	79147	FKRP	OMIM:607155
HP:0003701	Proximal muscle weakness	79147	FKRP	OMIM:606612
HP:0003701	Proximal muscle weakness	79147	FKRP	ORPHA:34515
HP:0003701	Proximal muscle weakness	79147	FKRP	ORPHA:370959
HP:0003701	Proximal muscle weakness	4625	MYH7	OMIM:160500
HP:0003701	Proximal muscle weakness	4625	MYH7	OMIM:255160
HP:0003701	Proximal muscle weakness	2673	GFPT1	ORPHA:353327
HP:0003701	Proximal muscle weakness	2673	GFPT1	OMIM:610542
HP:0003701	Proximal muscle weakness	1798	DPAGT1	ORPHA:353327
HP:0003701	Proximal muscle weakness	1798	DPAGT1	OMIM:614750
HP:0003701	Proximal muscle weakness	85365	ALG2	ORPHA:353327
HP:0003701	Proximal muscle weakness	199857	ALG14	ORPHA:353327
HP:0003701	Proximal muscle weakness	6444	SGCD	OMIM:601287
HP:0003701	Proximal muscle weakness	2273	FHL1	OMIM:300696
HP:0003701	Proximal muscle weakness	2273	FHL1	OMIM:300695
HP:0003701	Proximal muscle weakness	2273	FHL1	OMIM:300718
HP:0003701	Proximal muscle weakness	2273	FHL1	OMIM:300717
HP:0003701	Proximal muscle weakness	146862	UNC45B	OMIM:619178
HP:0003701	Proximal muscle weakness	274	BIN1	OMIM:255200
HP:0003701	Proximal muscle weakness	84876	ORAI1	OMIM:612782
HP:0003701	Proximal muscle weakness	84876	ORAI1	OMIM:615883
HP:0003701	Proximal muscle weakness	1293	COL6A3	OMIM:620726
HP:0003701	Proximal muscle weakness	6261	RYR1	OMIM:255320
HP:0003701	Proximal muscle weakness	6261	RYR1	OMIM:619542
HP:0003701	Proximal muscle weakness	6261	RYR1	ORPHA:424107
HP:0003701	Proximal muscle weakness	6261	RYR1	ORPHA:98905
HP:0003701	Proximal muscle weakness	22954	TRIM32	OMIM:254110
HP:0003701	Proximal muscle weakness	1292	COL6A2	OMIM:620727
HP:0003701	Proximal muscle weakness	1292	COL6A2	OMIM:620725
HP:0003701	Proximal muscle weakness	1292	COL6A2	OMIM:255600
HP:0003701	Proximal muscle weakness	9581	PREPL	OMIM:616224
HP:0003701	Proximal muscle weakness	4604	MYBPC1	OMIM:618524
HP:0003701	Proximal muscle weakness	7555	CNBP	ORPHA:606
HP:0003701	Proximal muscle weakness	7555	CNBP	OMIM:602668
HP:0003701	Proximal muscle weakness	29967	LRP12	OMIM:164310
HP:0003701	Proximal muscle weakness	9570	GOSR2	OMIM:620166
HP:0003701	Proximal muscle weakness	4508	MT-ATP6	OMIM:551500
HP:0003701	Proximal muscle weakness	4508	MT-ATP6	ORPHA:644
HP:0003701	Proximal muscle weakness	4620	MYH2	OMIM:605637
HP:0003701	Proximal muscle weakness	10367	MICU1	ORPHA:401768
HP:0003701	Proximal muscle weakness	10367	MICU1	OMIM:615673
HP:0003701	Proximal muscle weakness	1303	COL12A1	OMIM:616471
HP:0003701	Proximal muscle weakness	1303	COL12A1	ORPHA:536516
HP:0003701	Proximal muscle weakness	88	ACTN2	OMIM:618654
HP:0003701	Proximal muscle weakness	88	ACTN2	OMIM:618655
HP:0003701	Proximal muscle weakness	5442	POLRMT	OMIM:619743
HP:0003701	Proximal muscle weakness	7156	TOP3A	OMIM:618098
HP:0003701	Proximal muscle weakness	844	CASQ1	OMIM:616231
HP:0003701	Proximal muscle weakness	7170	TPM3	OMIM:255310
HP:0003701	Proximal muscle weakness	7170	TPM3	OMIM:609284
HP:0003701	Proximal muscle weakness	4632	MYL1	OMIM:618414
HP:0003701	Proximal muscle weakness	79731	NARS2	OMIM:616239
HP:0003701	Proximal muscle weakness	2218	FKTN	OMIM:611588
HP:0003701	Proximal muscle weakness	2218	FKTN	OMIM:611615
HP:0003701	Proximal muscle weakness	284439	SLC25A42	OMIM:618416
HP:0003701	Proximal muscle weakness	55154	MSTO1	ORPHA:502423
HP:0003701	Proximal muscle weakness	113278	SLC52A3	OMIM:211530
HP:0003701	Proximal muscle weakness	9927	MFN2	OMIM:601152
HP:0003701	Proximal muscle weakness	9927	MFN2	OMIM:617087
HP:0003701	Proximal muscle weakness	5376	PMP22	ORPHA:101081
HP:0003701	Proximal muscle weakness	5376	PMP22	OMIM:145900
HP:0003701	Proximal muscle weakness	23299	BICD2	ORPHA:363454
HP:0003701	Proximal muscle weakness	2318	FLNC	OMIM:614065
HP:0003701	Proximal muscle weakness	2318	FLNC	OMIM:609524
HP:0003701	Proximal muscle weakness	5566	PRKACA	OMIM:615830
HP:0003701	Proximal muscle weakness	4744	NEFH	OMIM:616924
HP:0003701	Proximal muscle weakness	10290	SPEG	OMIM:615959
HP:0003701	Proximal muscle weakness	6442	SGCA	ORPHA:62
HP:0003701	Proximal muscle weakness	6442	SGCA	OMIM:608099
HP:0003701	Proximal muscle weakness	58	ACTA1	OMIM:161800
HP:0003701	Proximal muscle weakness	58	ACTA1	ORPHA:97240
HP:0003701	Proximal muscle weakness	6607	SMN2	OMIM:253400
HP:0003701	Proximal muscle weakness	4976	OPA1	OMIM:165500
HP:0003701	Proximal muscle weakness	8898	MTMR2	OMIM:601382
HP:0003701	Proximal muscle weakness	6329	SCN4A	ORPHA:99734
HP:0003701	Proximal muscle weakness	80208	SPG11	ORPHA:300605
HP:0003701	Proximal muscle weakness	10280	SIGMAR1	ORPHA:300605
HP:0003701	Proximal muscle weakness	10558	SPTLC1	ORPHA:300605
HP:0003701	Proximal muscle weakness	57679	ALS2	ORPHA:300605
HP:0003701	Proximal muscle weakness	57679	ALS2	OMIM:205100
HP:0003701	Proximal muscle weakness	64419	MTMR14	OMIM:160150
HP:0003701	Proximal muscle weakness	1785	DNM2	OMIM:160150
HP:0003701	Proximal muscle weakness	2548	GAA	ORPHA:308552
HP:0003701	Proximal muscle weakness	2548	GAA	OMIM:232300
HP:0003701	Proximal muscle weakness	1299	COL9A3	OMIM:600969
HP:0003701	Proximal muscle weakness	79798	ARMC5	ORPHA:189427
HP:0003701	Proximal muscle weakness	23028	KDM1A	ORPHA:189427
HP:0003701	Proximal muscle weakness	2778	GNAS	ORPHA:189427
HP:0003701	Proximal muscle weakness	4076	CAPRIN1	OMIM:620636
HP:0003701	Proximal muscle weakness	11149	POPDC1	OMIM:616812
HP:0003701	Proximal muscle weakness	3708	ITPR1	OMIM:117360
HP:0003701	Proximal muscle weakness	8106	PABPN1	OMIM:164300
HP:0003701	Proximal muscle weakness	3178	HNRNPA1	ORPHA:52430
HP:0003701	Proximal muscle weakness	3181	HNRNPA2B1	ORPHA:52430
HP:0003701	Proximal muscle weakness	3181	HNRNPA2B1	OMIM:620460
HP:0003701	Proximal muscle weakness	57104	PNPLA2	OMIM:610717
HP:0003701	Proximal muscle weakness	34	ACADM	ORPHA:42
HP:0003701	Proximal muscle weakness	6389	SDHA	ORPHA:3208
HP:0003701	Proximal muscle weakness	6390	SDHB	ORPHA:3208
HP:0003701	Proximal muscle weakness	6392	SDHD	ORPHA:3208
HP:0003701	Proximal muscle weakness	644096	SDHAF1	ORPHA:3208
HP:0003701	Proximal muscle weakness	7317	UBA1	ORPHA:1145
HP:0003701	Proximal muscle weakness	4942	OAT	OMIM:258870
HP:0003701	Proximal muscle weakness	3098	HK1	ORPHA:99953
HP:0003701	Proximal muscle weakness	79628	SH3TC2	OMIM:601596
HP:0003701	Proximal muscle weakness	10397	NDRG1	ORPHA:99950
HP:0003701	Proximal muscle weakness	10397	NDRG1	OMIM:601455
HP:0003701	Proximal muscle weakness	9217	VAPB	OMIM:182980
HP:0003701	Proximal muscle weakness	9217	VAPB	OMIM:608627
HP:0003701	Proximal muscle weakness	56652	TWNK	OMIM:607459
HP:0003701	Proximal muscle weakness	56652	TWNK	OMIM:609286
HP:0003701	Proximal muscle weakness	56652	TWNK	ORPHA:70595
HP:0003701	Proximal muscle weakness	5428	POLG	OMIM:607459
HP:0003701	Proximal muscle weakness	5428	POLG	OMIM:258450
HP:0003701	Proximal muscle weakness	5428	POLG	ORPHA:254886
HP:0003701	Proximal muscle weakness	5428	POLG	ORPHA:70595
HP:0003701	Proximal muscle weakness	3991	LIPE	OMIM:615980
HP:0003701	Proximal muscle weakness	3508	IGHMBP2	OMIM:616155
HP:0003701	Proximal muscle weakness	284119	CAVIN1	OMIM:613327
HP:0003701	Proximal muscle weakness	4000	LMNA	OMIM:613205
HP:0003701	Proximal muscle weakness	4000	LMNA	ORPHA:98856
HP:0003701	Proximal muscle weakness	4000	LMNA	OMIM:605588
HP:0003701	Proximal muscle weakness	4359	MPZ	OMIM:145900
HP:0003701	Proximal muscle weakness	1959	EGR2	OMIM:145900
HP:0003701	Proximal muscle weakness	57716	PRX	OMIM:145900
HP:0003701	Proximal muscle weakness	389827	MYMK	OMIM:254940
HP:0003701	Proximal muscle weakness	6310	ATXN1	OMIM:164400
HP:0003701	Proximal muscle weakness	1291	COL6A1	OMIM:254090
HP:0003701	Proximal muscle weakness	1291	COL6A1	OMIM:158810
HP:0003701	Proximal muscle weakness	126129	CPT1C	OMIM:616282
HP:0003701	Proximal muscle weakness	127833	SYT2	OMIM:616040
HP:0003701	Proximal muscle weakness	127833	SYT2	ORPHA:98914
HP:0003701	Proximal muscle weakness	79188	TMEM43	OMIM:614302
HP:0003701	Proximal muscle weakness	1305	COL13A1	OMIM:616720
HP:0003701	Proximal muscle weakness	1305	COL13A1	ORPHA:98914
HP:0003701	Proximal muscle weakness	79912	PYROXD1	OMIM:617258
HP:0003701	Proximal muscle weakness	7443	VRK1	OMIM:620542
HP:0003701	Proximal muscle weakness	4703	NEB	OMIM:256030
HP:0003701	Proximal muscle weakness	60482	SLC5A7	OMIM:617143
HP:0003701	Proximal muscle weakness	60482	SLC5A7	ORPHA:98914
HP:0003701	Proximal muscle weakness	7084	TK2	ORPHA:254886
HP:0003701	Proximal muscle weakness	7084	TK2	OMIM:617069
HP:0003701	Proximal muscle weakness	6263	RYR3	OMIM:620310
HP:0003701	Proximal muscle weakness	54344	DPM3	OMIM:612937
HP:0003701	Proximal muscle weakness	84679	SLC9A7	OMIM:301024
HP:0003701	Proximal muscle weakness	427	ASAH1	OMIM:159950
HP:0003701	Proximal muscle weakness	4694	NDUFA1	OMIM:301020
HP:0003701	Proximal muscle weakness	23345	SYNE1	OMIM:618484
HP:0003701	Proximal muscle weakness	23345	SYNE1	OMIM:612998
HP:0003701	Proximal muscle weakness	7169	TPM2	OMIM:609285
HP:0003701	Proximal muscle weakness	10616	RBCK1	OMIM:615895
HP:0003701	Proximal muscle weakness	55863	TMEM126B	OMIM:618250
HP:0003701	Proximal muscle weakness	112812	FDX2	OMIM:251900
HP:0003701	Proximal muscle weakness	84892	POMGNT2	OMIM:618135
HP:0003701	Proximal muscle weakness	4507	MTAP	OMIM:112250
HP:0003701	Proximal muscle weakness	57449	PLEKHG5	OMIM:611067
HP:0003701	Proximal muscle weakness	89874	SLC25A21	OMIM:618811
HP:0003701	Proximal muscle weakness	9531	BAG3	OMIM:612954
HP:0003701	Proximal muscle weakness	56244	BTNL2	ORPHA:797
HP:0003701	Proximal muscle weakness	3123	HLA-DRB1	ORPHA:797
HP:0003701	Proximal muscle weakness	1756	DMD	ORPHA:98896
HP:0003701	Proximal muscle weakness	1756	DMD	ORPHA:206546
HP:0003701	Proximal muscle weakness	8425	LTBP4	ORPHA:98896
HP:0003701	Proximal muscle weakness	79784	MYH14	ORPHA:397744
HP:0003701	Proximal muscle weakness	84265	POLR3GL	OMIM:619234
HP:0003701	Proximal muscle weakness	55791	LRIF1	OMIM:619477
HP:0003701	Proximal muscle weakness	8087	FXR1	OMIM:618823
HP:0003701	Proximal muscle weakness	26576	SRPK3	OMIM:301134
HP:0003701	Proximal muscle weakness	29954	POMT2	ORPHA:370959
HP:0003701	Proximal muscle weakness	29954	POMT2	OMIM:613156
HP:0003701	Proximal muscle weakness	29954	POMT2	OMIM:613158
HP:0003701	Proximal muscle weakness	84197	POMK	ORPHA:370959
HP:0003701	Proximal muscle weakness	55624	POMGNT1	ORPHA:370959
HP:0003701	Proximal muscle weakness	55624	POMGNT1	OMIM:613157
HP:0003701	Proximal muscle weakness	10585	POMT1	ORPHA:370959
HP:0003701	Proximal muscle weakness	10585	POMT1	ORPHA:86812
HP:0003701	Proximal muscle weakness	10345	TRDN	OMIM:615441
HP:0003701	Proximal muscle weakness	6786	STIM1	OMIM:185070
HP:0003701	Proximal muscle weakness	6786	STIM1	OMIM:160565
HP:0003701	Proximal muscle weakness	4649	MYO9A	ORPHA:98914
HP:0003701	Proximal muscle weakness	1103	CHAT	ORPHA:98914
HP:0003701	Proximal muscle weakness	6576	SLC25A1	ORPHA:98914
HP:0003701	Proximal muscle weakness	6843	VAMP1	ORPHA:98914
HP:0003701	Proximal muscle weakness	6572	SLC18A3	ORPHA:98914
HP:0003701	Proximal muscle weakness	6616	SNAP25	ORPHA:98914
HP:0003701	Proximal muscle weakness	8292	COLQ	ORPHA:98915
HP:0003701	Proximal muscle weakness	3913	LAMB2	ORPHA:98915
HP:0003701	Proximal muscle weakness	10342	TFG	OMIM:604484
HP:0003701	Proximal muscle weakness	9215	LARGE1	OMIM:608840
HP:0003701	Proximal muscle weakness	1716	DGUOK	OMIM:617070
HP:0003701	Proximal muscle weakness	3920	LAMP2	OMIM:300257
HP:0003701	Proximal muscle weakness	64208	POPDC3	OMIM:618848
HP:0003701	Proximal muscle weakness	81545	FBXO38	OMIM:615575
HP:0003701	Proximal muscle weakness	84466	MEGF10	OMIM:620249
HP:0003701	Proximal muscle weakness	8139	GAN	ORPHA:643
HP:0003701	Proximal muscle weakness	8139	GAN	OMIM:256850
HP:0003701	Proximal muscle weakness	51776	MAP3K20	OMIM:617760
HP:0003701	Proximal muscle weakness	51763	INPP5K	OMIM:617404
HP:0003701	Proximal muscle weakness	132001	TAMM41	OMIM:620139
HP:0003701	Proximal muscle weakness	5339	PLEC	OMIM:613723
HP:0003701	Proximal muscle weakness	90523	MLIP	OMIM:620138
HP:0003701	Proximal muscle weakness	23224	SYNE2	OMIM:612999
HP:0003701	Proximal muscle weakness	3156	HMGCR	OMIM:620375
HP:0003701	Proximal muscle weakness	203859	ANO5	OMIM:611307
HP:0003701	Proximal muscle weakness	50640	PNPLA8	OMIM:251950
HP:0003701	Proximal muscle weakness	246329	STAC3	OMIM:255995
HP:0003701	Proximal muscle weakness	6584	SLC22A5	OMIM:212140
HP:0003701	Proximal muscle weakness	291	SLC25A4	ORPHA:254892
HP:0003701	Proximal muscle weakness	11232	POLG2	ORPHA:254892
HP:0003701	Proximal muscle weakness	50484	RRM2B	ORPHA:254892
HP:0003701	Proximal muscle weakness	3339	HSPG2	OMIM:255800
HP:0003701	Proximal muscle weakness	10020	GNE	ORPHA:602
HP:0003701	Proximal muscle weakness	23312	DMXL2	ORPHA:453533
HP:0003701	Proximal muscle weakness	1778	DYNC1H1	OMIM:158600
HP:0003701	Proximal muscle weakness	540	ATP7B	ORPHA:905
HP:0003701	Proximal muscle weakness	4618	MYF6	ORPHA:169189
HP:0003701	Proximal muscle weakness	23556	PIGN	ORPHA:280633
HP:0003701	Proximal muscle weakness	3714	JAG2	OMIM:619566
HP:0003701	Proximal muscle weakness	6652	SORD	OMIM:618912
HP:0003701	Proximal muscle weakness	729920	CRPPA	ORPHA:352479
HP:0003701	Proximal muscle weakness	65055	REEP1	ORPHA:101011
HP:0003701	Proximal muscle weakness	56983	POGLUT1	OMIM:617232
HP:0003701	Proximal muscle weakness	64856	VWA1	OMIM:619216
HP:0003701	Proximal muscle weakness	311	ANXA11	OMIM:619733
HP:0003701	Proximal muscle weakness	122622	ADSS1	ORPHA:482601
HP:0003701	Proximal muscle weakness	81846	SBF2	ORPHA:99956
HP:0003701	Proximal muscle weakness	2010	EMD	ORPHA:98863
HP:0003701	Proximal muscle weakness	4151	MB	OMIM:620286
HP:0003701	Proximal muscle weakness	23676	SMPX	OMIM:301075
HP:0003701	Proximal muscle weakness	8557	TCAP	OMIM:601954
HP:0003701	Proximal muscle weakness	6709	SPTAN1	OMIM:620538
HP:0003701	Proximal muscle weakness	1371	CPOX	ORPHA:79273
HP:0003701	Proximal muscle weakness	3145	HMBS	ORPHA:79276
HP:0003701	Proximal muscle weakness	339855	KY	ORPHA:496689
HP:0003701	Proximal muscle weakness	9990	SLC12A6	OMIM:620068
HP:0003701	Proximal muscle weakness	84033	OBSCN	ORPHA:99845
HP:0003701	Proximal muscle weakness	23175	LPIN1	ORPHA:99845
HP:0003701	Proximal muscle weakness	4512	MT-CO1	ORPHA:99845
HP:0003701	Proximal muscle weakness	4514	MT-CO3	ORPHA:99845
HP:0003701	Proximal muscle weakness	5498	PPOX	ORPHA:79473
HP:0003701	Proximal muscle weakness	11155	LDB3	ORPHA:98912
HP:0003701	Proximal muscle weakness	353116	RILPL1	ORPHA:98897
HP:0003701	Proximal muscle weakness	10755	GIPC1	ORPHA:98897
HP:0003701	Proximal muscle weakness	100996717	NOTCH2NLC	ORPHA:98897
HP:0003701	Proximal muscle weakness	4568	MT-TL2	ORPHA:663
HP:0003701	Proximal muscle weakness	4567	MT-TL1	ORPHA:663
HP:0003701	Proximal muscle weakness	4570	MT-TN	ORPHA:663
HP:0003701	Proximal muscle weakness	4574	MT-TS1	ORPHA:663
HP:0003701	Proximal muscle weakness	51099	ABHD5	ORPHA:98907
HP:0003701	Proximal muscle weakness	4358	MPV17	OMIM:256810
HP:0003701	Proximal muscle weakness	4556	MT-TE	ORPHA:2596
HP:0003701	Proximal muscle weakness	5837	PYGM	ORPHA:368
HP:0003701	Proximal muscle weakness	4038	LRP4	ORPHA:98913
HP:0003701	Proximal muscle weakness	1140	CHRNB1	ORPHA:98913
HP:0003701	Proximal muscle weakness	1144	CHRND	ORPHA:98913
HP:0003701	Proximal muscle weakness	221264	AK9	ORPHA:98913
HP:0003701	Proximal muscle weakness	182	JAG1	OMIM:619574
HP:0008952	Shoulder muscle hypoplasia	2316	FLNA	ORPHA:1826
HP:0008952	Shoulder muscle hypoplasia	6885	MAP3K7	ORPHA:1826
HP:0008952	Shoulder muscle hypoplasia	9939	RBM8A	OMIM:274000
HP:0008952	Shoulder muscle hypoplasia	57167	SALL4	OMIM:147750
HP:0008952	Shoulder muscle hypoplasia	6910	TBX5	OMIM:142900
HP:0008953	Pectoralis major hypoplasia	57167	SALL4	OMIM:147750
HP:0008954	Intrinsic hand muscle atrophy	1134	CHRNA1	OMIM:601462
HP:0008954	Intrinsic hand muscle atrophy	55768	NGLY1	OMIM:615273
HP:0008954	Intrinsic hand muscle atrophy	23321	TRIM2	OMIM:615490
HP:0008954	Intrinsic hand muscle atrophy	3094	HINT1	ORPHA:324442
HP:0008954	Intrinsic hand muscle atrophy	182	JAG1	OMIM:619574
HP:0008954	Intrinsic hand muscle atrophy	8988	HSPB3	OMIM:613376
HP:0008954	Intrinsic hand muscle atrophy	7415	VCP	ORPHA:329478
HP:0008954	Intrinsic hand muscle atrophy	22880	MORC2	OMIM:616688
HP:0008954	Intrinsic hand muscle atrophy	859	CAV3	OMIM:614321
HP:0008954	Intrinsic hand muscle atrophy	859	CAV3	ORPHA:488650
HP:0008954	Intrinsic hand muscle atrophy	4358	MPV17	OMIM:256810
HP:0008954	Intrinsic hand muscle atrophy	2318	FLNC	ORPHA:63273
HP:0008954	Intrinsic hand muscle atrophy	5165	PDK3	OMIM:300905
HP:0008954	Intrinsic hand muscle atrophy	374969	SVBP	OMIM:618569
HP:0008954	Intrinsic hand muscle atrophy	8878	SQSTM1	ORPHA:603
HP:0008954	Intrinsic hand muscle atrophy	7072	TIA1	ORPHA:603
HP:0008954	Intrinsic hand muscle atrophy	54332	GDAP1	ORPHA:101097
HP:0008954	Intrinsic hand muscle atrophy	9990	SLC12A6	OMIM:620068
HP:0008954	Intrinsic hand muscle atrophy	10558	SPTLC1	OMIM:620285
HP:0008954	Intrinsic hand muscle atrophy	1678	TIMM8A	OMIM:304700
HP:0008954	Intrinsic hand muscle atrophy	6261	RYR1	ORPHA:178145
HP:0008954	Intrinsic hand muscle atrophy	55958	KLHL9	ORPHA:399081
HP:0008954	Intrinsic hand muscle atrophy	8291	DYSF	ORPHA:178400
HP:0008954	Intrinsic hand muscle atrophy	8291	DYSF	ORPHA:45448
HP:0008954	Intrinsic hand muscle atrophy	547	KIF1A	OMIM:614213
HP:0008954	Intrinsic hand muscle atrophy	57716	PRX	OMIM:614895
HP:0008954	Intrinsic hand muscle atrophy	3035	HARS1	ORPHA:488333
HP:0008954	Intrinsic hand muscle atrophy	400916	CHCHD10	ORPHA:276435
HP:0008954	Intrinsic hand muscle atrophy	11155	LDB3	ORPHA:98912
HP:0008954	Intrinsic hand muscle atrophy	5376	PMP22	ORPHA:3115
HP:0008954	Intrinsic hand muscle atrophy	4359	MPZ	ORPHA:3115
HP:0008955	Progressive distal muscular atrophy	427	ASAH1	OMIM:159950
HP:0008955	Progressive distal muscular atrophy	11284	PNKP	ORPHA:459033
HP:0008955	Progressive distal muscular atrophy	25978	CHMP2B	ORPHA:803
HP:0008955	Progressive distal muscular atrophy	3178	HNRNPA1	ORPHA:803
HP:0008955	Progressive distal muscular atrophy	8148	TAF15	ORPHA:803
HP:0008955	Progressive distal muscular atrophy	5445	PON2	ORPHA:803
HP:0008955	Progressive distal muscular atrophy	9217	VAPB	ORPHA:803
HP:0008955	Progressive distal muscular atrophy	8878	SQSTM1	ORPHA:803
HP:0008955	Progressive distal muscular atrophy	5630	PRPH	ORPHA:803
HP:0008955	Progressive distal muscular atrophy	29110	TBK1	ORPHA:803
HP:0008955	Progressive distal muscular atrophy	55830	GLT8D1	ORPHA:803
HP:0008955	Progressive distal muscular atrophy	755	CFAP410	ORPHA:803
HP:0008955	Progressive distal muscular atrophy	10891	PPARGC1A	ORPHA:803
HP:0008955	Progressive distal muscular atrophy	6647	SOD1	ORPHA:803
HP:0008955	Progressive distal muscular atrophy	10133	OPTN	ORPHA:803
HP:0008955	Progressive distal muscular atrophy	1639	DCTN1	ORPHA:803
HP:0008955	Progressive distal muscular atrophy	9896	FIG4	ORPHA:803
HP:0008955	Progressive distal muscular atrophy	5444	PON1	ORPHA:803
HP:0008955	Progressive distal muscular atrophy	5446	PON3	ORPHA:803
HP:0008955	Progressive distal muscular atrophy	4744	NEFH	ORPHA:803
HP:0008955	Progressive distal muscular atrophy	5216	PFN1	ORPHA:803
HP:0008955	Progressive distal muscular atrophy	9782	MATR3	ORPHA:803
HP:0008955	Progressive distal muscular atrophy	54209	TREM2	ORPHA:803
HP:0008955	Progressive distal muscular atrophy	7415	VCP	ORPHA:803
HP:0008955	Progressive distal muscular atrophy	283	ANG	ORPHA:803
HP:0008955	Progressive distal muscular atrophy	23435	TARDBP	ORPHA:803
HP:0008955	Progressive distal muscular atrophy	29978	UBQLN2	ORPHA:803
HP:0008955	Progressive distal muscular atrophy	2733	GLE1	ORPHA:803
HP:0008955	Progressive distal muscular atrophy	2521	FUS	ORPHA:803
HP:0008955	Progressive distal muscular atrophy	4750	NEK1	ORPHA:803
HP:0008955	Progressive distal muscular atrophy	6311	ATXN2	ORPHA:803
HP:0008955	Progressive distal muscular atrophy	1610	DAO	ORPHA:803
HP:0008955	Progressive distal muscular atrophy	2066	ERBB4	ORPHA:803
HP:0008955	Progressive distal muscular atrophy	311	ANXA11	ORPHA:803
HP:0008955	Progressive distal muscular atrophy	23025	UNC13A	ORPHA:803
HP:0008955	Progressive distal muscular atrophy	899	CCNF	ORPHA:803
HP:0008955	Progressive distal muscular atrophy	400916	CHCHD10	ORPHA:803
HP:0008955	Progressive distal muscular atrophy	59341	TRPV4	OMIM:181405
HP:0008956	Proximal lower limb amyotrophy	59341	TRPV4	OMIM:600175
HP:0008956	Proximal lower limb amyotrophy	65055	REEP1	ORPHA:101011
HP:0008956	Proximal lower limb amyotrophy	1778	DYNC1H1	OMIM:158600
HP:0008956	Proximal lower limb amyotrophy	80208	SPG11	OMIM:616668
HP:0008956	Proximal lower limb amyotrophy	203547	VMA21	OMIM:310440
HP:0008956	Proximal lower limb amyotrophy	6444	SGCD	ORPHA:219
HP:0008956	Proximal lower limb amyotrophy	4000	LMNA	ORPHA:98855
HP:0008956	Proximal lower limb amyotrophy	4000	LMNA	ORPHA:98856
HP:0008956	Proximal lower limb amyotrophy	4000	LMNA	ORPHA:98853
HP:0008956	Proximal lower limb amyotrophy	4747	NEFL	ORPHA:101085
HP:0008956	Proximal lower limb amyotrophy	9987	HNRNPDL	OMIM:609115
HP:0008956	Proximal lower limb amyotrophy	6606	SMN1	OMIM:253400
HP:0008956	Proximal lower limb amyotrophy	6607	SMN2	OMIM:253400
HP:0008956	Proximal lower limb amyotrophy	2273	FHL1	ORPHA:98863
HP:0008956	Proximal lower limb amyotrophy	2010	EMD	ORPHA:98863
HP:0008956	Proximal lower limb amyotrophy	79188	TMEM43	ORPHA:98853
HP:0008956	Proximal lower limb amyotrophy	23345	SYNE1	ORPHA:98853
HP:0008956	Proximal lower limb amyotrophy	23224	SYNE2	ORPHA:98853
HP:0008956	Proximal lower limb amyotrophy	122622	ADSS1	ORPHA:482601
HP:0008956	Proximal lower limb amyotrophy	203859	ANO5	OMIM:613319
HP:0008956	Proximal lower limb amyotrophy	203859	ANO5	OMIM:611307
HP:0008956	Proximal lower limb amyotrophy	203859	ANO5	ORPHA:206549
HP:0008956	Proximal lower limb amyotrophy	10558	SPTLC1	OMIM:620285
HP:0008956	Proximal lower limb amyotrophy	6261	RYR1	ORPHA:597
HP:0008956	Proximal lower limb amyotrophy	6261	RYR1	ORPHA:424107
HP:0008956	Proximal lower limb amyotrophy	6261	RYR1	ORPHA:98905
HP:0003697	Scapuloperoneal amyotrophy	4000	LMNA	OMIM:181350
HP:0003697	Scapuloperoneal amyotrophy	4000	LMNA	OMIM:613205
HP:0003697	Scapuloperoneal amyotrophy	57449	PLEKHG5	OMIM:611067
HP:0003697	Scapuloperoneal amyotrophy	4625	MYH7	OMIM:255160
HP:0003697	Scapuloperoneal amyotrophy	4625	MYH7	OMIM:608358
HP:0003697	Scapuloperoneal amyotrophy	59341	TRPV4	OMIM:181405
HP:0003697	Scapuloperoneal amyotrophy	29954	POMT2	ORPHA:206559
HP:0008959	Distal upper limb muscle weakness	7143	TNR	OMIM:619653
HP:0008959	Distal upper limb muscle weakness	122622	ADSS1	OMIM:617030
HP:0008959	Distal upper limb muscle weakness	122622	ADSS1	ORPHA:482601
HP:0008959	Distal upper limb muscle weakness	23259	DDHD2	OMIM:615033
HP:0008959	Distal upper limb muscle weakness	8988	HSPB3	OMIM:613376
HP:0008959	Distal upper limb muscle weakness	7415	VCP	ORPHA:435387
HP:0008959	Distal upper limb muscle weakness	7415	VCP	OMIM:616687
HP:0008959	Distal upper limb muscle weakness	59341	TRPV4	OMIM:606071
HP:0008959	Distal upper limb muscle weakness	57863	CADM3	OMIM:619519
HP:0008959	Distal upper limb muscle weakness	2318	FLNC	ORPHA:63273
HP:0008959	Distal upper limb muscle weakness	64856	VWA1	OMIM:619216
HP:0008959	Distal upper limb muscle weakness	80208	SPG11	OMIM:616668
HP:0008959	Distal upper limb muscle weakness	7273	TTN	ORPHA:609
HP:0008959	Distal upper limb muscle weakness	10229	COQ7	OMIM:620402
HP:0008959	Distal upper limb muscle weakness	8878	SQSTM1	ORPHA:603
HP:0008959	Distal upper limb muscle weakness	7072	TIA1	ORPHA:603
HP:0008959	Distal upper limb muscle weakness	81846	SBF2	ORPHA:99956
HP:0008959	Distal upper limb muscle weakness	4747	NEFL	OMIM:607684
HP:0008959	Distal upper limb muscle weakness	203859	ANO5	OMIM:613319
HP:0008959	Distal upper limb muscle weakness	54332	GDAP1	ORPHA:101097
HP:0008959	Distal upper limb muscle weakness	22947	DUX4L1	ORPHA:269
HP:0008959	Distal upper limb muscle weakness	1789	DNMT3B	ORPHA:269
HP:0008959	Distal upper limb muscle weakness	2483	FRG1	ORPHA:269
HP:0008959	Distal upper limb muscle weakness	23347	SMCHD1	ORPHA:269
HP:0008959	Distal upper limb muscle weakness	100288687	DUX4	ORPHA:269
HP:0008959	Distal upper limb muscle weakness	773	CACNA1A	ORPHA:569
HP:0008959	Distal upper limb muscle weakness	112476	PRRT2	ORPHA:569
HP:0008959	Distal upper limb muscle weakness	6323	SCN1A	ORPHA:569
HP:0008959	Distal upper limb muscle weakness	477	ATP1A2	ORPHA:569
HP:0008959	Distal upper limb muscle weakness	3098	HK1	ORPHA:99953
HP:0008959	Distal upper limb muscle weakness	3098	HK1	OMIM:605285
HP:0008959	Distal upper limb muscle weakness	4000	LMNA	OMIM:181350
HP:0008959	Distal upper limb muscle weakness	4000	LMNA	ORPHA:98856
HP:0008959	Distal upper limb muscle weakness	8291	DYSF	ORPHA:268
HP:0008959	Distal upper limb muscle weakness	4311	MME	ORPHA:497764
HP:0008959	Distal upper limb muscle weakness	10397	NDRG1	ORPHA:99950
HP:0008959	Distal upper limb muscle weakness	23676	SMPX	OMIM:301075
HP:0008959	Distal upper limb muscle weakness	59345	GNB4	OMIM:615185
HP:0008959	Distal upper limb muscle weakness	29925	GMPPB	ORPHA:363623
HP:0008959	Distal upper limb muscle weakness	6261	RYR1	ORPHA:178145
HP:0008959	Distal upper limb muscle weakness	3714	JAG2	OMIM:619566
HP:0008959	Distal upper limb muscle weakness	10516	FBLN5	OMIM:619764
HP:0008959	Distal upper limb muscle weakness	6652	SORD	OMIM:618912
HP:0008959	Distal upper limb muscle weakness	9517	SPTLC2	OMIM:613640
HP:0008959	Distal upper limb muscle weakness	7453	WARS1	OMIM:617721
HP:0008959	Distal upper limb muscle weakness	22880	MORC2	ORPHA:466768
HP:0008959	Distal upper limb muscle weakness	3035	HARS1	ORPHA:488333
HP:0008959	Distal upper limb muscle weakness	90523	MLIP	OMIM:620138
HP:0008959	Distal upper limb muscle weakness	10073	SNUPN	OMIM:620793
HP:0008959	Distal upper limb muscle weakness	353116	RILPL1	ORPHA:98897
HP:0008959	Distal upper limb muscle weakness	10755	GIPC1	ORPHA:98897
HP:0008959	Distal upper limb muscle weakness	29967	LRP12	ORPHA:98897
HP:0008959	Distal upper limb muscle weakness	100996717	NOTCH2NLC	ORPHA:98897
HP:0031830	Pinguecula	2629	GBA1	ORPHA:77259
HP:0031830	Pinguecula	950	SCARB2	ORPHA:77259
HP:0031831	Decreased serum zinc	4312	MMP1	ORPHA:79408
HP:0031831	Decreased serum zinc	1294	COL7A1	ORPHA:79408
HP:0031831	Decreased serum zinc	1294	COL7A1	ORPHA:89842
HP:0031831	Decreased serum zinc	3376	IARS1	ORPHA:541423
HP:0031831	Decreased serum zinc	3376	IARS1	OMIM:617093
HP:0031831	Decreased serum zinc	7780	SLC30A2	OMIM:608118
HP:0031831	Decreased serum zinc	55630	SLC39A4	OMIM:201100
HP:0031833	Hypometric upward saccades	8398	PLA2G6	OMIM:612953
HP:0031834	Aortopulmonary collateral arteries	7528	YY1	OMIM:617557
HP:0031834	Aortopulmonary collateral arteries	168507	PKD1L1	OMIM:617205
HP:0031834	Aortopulmonary collateral arteries	8854	ALDH1A2	OMIM:620025
HP:0031834	Aortopulmonary collateral arteries	6326	SCN2A	ORPHA:293181
HP:0031834	Aortopulmonary collateral arteries	57468	SLC12A5	ORPHA:293181
HP:0031834	Aortopulmonary collateral arteries	23236	PLCB1	ORPHA:293181
HP:0031834	Aortopulmonary collateral arteries	3785	KCNQ2	ORPHA:293181
HP:0031834	Aortopulmonary collateral arteries	57582	KCNT1	ORPHA:293181
HP:0031834	Aortopulmonary collateral arteries	5277	PIGA	ORPHA:293181
HP:0031834	Aortopulmonary collateral arteries	6323	SCN1A	ORPHA:293181
HP:0031834	Aortopulmonary collateral arteries	79751	SLC25A22	ORPHA:293181
HP:0031834	Aortopulmonary collateral arteries	57465	TBC1D24	ORPHA:293181
HP:0031834	Aortopulmonary collateral arteries	2324	FLT4	OMIM:618780
HP:0031834	Aortopulmonary collateral arteries	2657	GDF1	OMIM:208530
HP:0031834	Aortopulmonary collateral arteries	23129	PLXND1	OMIM:620294
HP:0005707	Bilateral triphalangeal thumbs	2263	FGFR2	OMIM:149730
HP:0005707	Bilateral triphalangeal thumbs	526	ATP6V1B2	OMIM:124480
HP:0005707	Bilateral triphalangeal thumbs	5281	PIGF	OMIM:619356
HP:0005709	2-3 toe cutaneous syndactyly	1717	DHCR7	OMIM:270400
HP:0005709	2-3 toe cutaneous syndactyly	4204	MECP2	OMIM:300260
HP:0005709	2-3 toe cutaneous syndactyly	54880	BCOR	OMIM:300166
HP:0005709	2-3 toe cutaneous syndactyly	6134	RPL10	OMIM:300998
HP:0005709	2-3 toe cutaneous syndactyly	8295	TRRAP	OMIM:618454
HP:0005709	2-3 toe cutaneous syndactyly	91179	SCARF2	OMIM:600920
HP:0005709	2-3 toe cutaneous syndactyly	23288	IQCE	OMIM:617642
HP:0005709	2-3 toe cutaneous syndactyly	5587	PRKD1	OMIM:617364
HP:0005709	2-3 toe cutaneous syndactyly	81607	NECTIN4	OMIM:613573
HP:0005709	2-3 toe cutaneous syndactyly	55784	MCTP2	ORPHA:1596
HP:0005709	2-3 toe cutaneous syndactyly	23261	CAMTA1	OMIM:614756
HP:0005709	2-3 toe cutaneous syndactyly	775	CACNA1C	OMIM:620029
HP:0005709	2-3 toe cutaneous syndactyly	8823	FGF16	OMIM:309630
HP:0005709	2-3 toe cutaneous syndactyly	64093	SMOC1	OMIM:206920
HP:0005709	2-3 toe cutaneous syndactyly	253738	EBF3	ORPHA:96148
HP:0005709	2-3 toe cutaneous syndactyly	10522	DEAF1	OMIM:615828
HP:0005709	2-3 toe cutaneous syndactyly	8626	TP63	OMIM:129400
HP:0005709	2-3 toe cutaneous syndactyly	10079	ATP9A	OMIM:620242
HP:0005709	2-3 toe cutaneous syndactyly	2556	GABRA3	OMIM:301091
HP:0005709	2-3 toe cutaneous syndactyly	6309	SC5D	OMIM:607330
HP:0003422	Vertebral segmentation defect	2737	GLI3	ORPHA:672
HP:0003422	Vertebral segmentation defect	2737	GLI3	OMIM:146510
HP:0003422	Vertebral segmentation defect	2737	GLI3	ORPHA:93322
HP:0003422	Vertebral segmentation defect	9791	PTDSS1	OMIM:151050
HP:0003422	Vertebral segmentation defect	5447	POR	OMIM:201750
HP:0003422	Vertebral segmentation defect	6909	TBX2	OMIM:618223
HP:0003422	Vertebral segmentation defect	8558	CDK10	OMIM:617694
HP:0003422	Vertebral segmentation defect	145173	B3GLCT	OMIM:261540
HP:0003422	Vertebral segmentation defect	1857	DVL3	ORPHA:3107
HP:0003422	Vertebral segmentation defect	7474	WNT5A	ORPHA:3107
HP:0003422	Vertebral segmentation defect	1855	DVL1	ORPHA:3107
HP:0003422	Vertebral segmentation defect	2535	FZD2	ORPHA:3107
HP:0003422	Vertebral segmentation defect	5885	RAD21	OMIM:614701
HP:0003422	Vertebral segmentation defect	6650	CAPN15	OMIM:619318
HP:0003422	Vertebral segmentation defect	10992	SF3B2	OMIM:164210
HP:0003422	Vertebral segmentation defect	546	ATRX	OMIM:301040
HP:0003422	Vertebral segmentation defect	526	ATP6V1B2	ORPHA:79500
HP:0003422	Vertebral segmentation defect	57465	TBC1D24	ORPHA:79500
HP:0003422	Vertebral segmentation defect	6651	SON	OMIM:617140
HP:0003422	Vertebral segmentation defect	6651	SON	ORPHA:500150
HP:0003422	Vertebral segmentation defect	8085	KMT2D	ORPHA:2322
HP:0003422	Vertebral segmentation defect	7403	KDM6A	ORPHA:2322
HP:0003422	Vertebral segmentation defect	182	JAG1	OMIM:118450
HP:0003422	Vertebral segmentation defect	388015	RTL1	ORPHA:96334
HP:0003422	Vertebral segmentation defect	8788	DLK1	ORPHA:96334
HP:0003422	Vertebral segmentation defect	55384	MEG3	ORPHA:96334
HP:0003422	Vertebral segmentation defect	55636	CHD7	ORPHA:138
HP:0003422	Vertebral segmentation defect	55636	CHD7	OMIM:214800
HP:0003422	Vertebral segmentation defect	9723	SEMA3E	ORPHA:138
HP:0003422	Vertebral segmentation defect	2187	FANCB	ORPHA:3412
HP:0003422	Vertebral segmentation defect	5727	PTCH1	ORPHA:377
HP:0003422	Vertebral segmentation defect	5727	PTCH1	OMIM:109400
HP:0003422	Vertebral segmentation defect	8643	PTCH2	ORPHA:377
HP:0003422	Vertebral segmentation defect	51684	SUFU	ORPHA:377
HP:0003422	Vertebral segmentation defect	6657	SOX2	ORPHA:77298
HP:0003422	Vertebral segmentation defect	6657	SOX2	OMIM:206900
HP:0003422	Vertebral segmentation defect	9897	WASHC5	OMIM:220210
HP:0003422	Vertebral segmentation defect	9897	WASHC5	ORPHA:7
HP:0003422	Vertebral segmentation defect	55777	MBD5	OMIM:156200
HP:0003422	Vertebral segmentation defect	60	ACTB	OMIM:604919
HP:0003422	Vertebral segmentation defect	4998	ORC1	OMIM:224690
HP:0003422	Vertebral segmentation defect	51360	MBTPS2	ORPHA:85284
HP:0003422	Vertebral segmentation defect	7476	WNT7A	OMIM:276820
HP:0003422	Vertebral segmentation defect	28952	CCDC22	ORPHA:7
HP:0003422	Vertebral segmentation defect	57020	VPS35L	ORPHA:7
HP:0003422	Vertebral segmentation defect	56896	DPYSL5	ORPHA:7
HP:0003422	Vertebral segmentation defect	10682	EBP	OMIM:302960
HP:0003422	Vertebral segmentation defect	26175	LYSET	OMIM:619345
HP:0003422	Vertebral segmentation defect	22827	PUF60	OMIM:615583
HP:0003422	Vertebral segmentation defect	8517	IKBKG	OMIM:308300
HP:0003422	Vertebral segmentation defect	4990	SIX6	OMIM:206900
HP:0003422	Vertebral segmentation defect	91039	DPP9	OMIM:620331
HP:0003422	Vertebral segmentation defect	4038	LRP4	OMIM:212780
HP:0003422	Vertebral segmentation defect	6660	SOX5	ORPHA:313892
HP:0003422	Vertebral segmentation defect	79147	FKRP	OMIM:606612
HP:0003422	Vertebral segmentation defect	79147	FKRP	OMIM:607155
HP:0003422	Vertebral segmentation defect	2335	FN1	ORPHA:93315
HP:0003422	Vertebral segmentation defect	29123	ANKRD11	ORPHA:2332
HP:0003422	Vertebral segmentation defect	29123	ANKRD11	OMIM:148050
HP:0003422	Vertebral segmentation defect	284058	KANSL1	OMIM:610443
HP:0003422	Vertebral segmentation defect	3081	HGD	OMIM:203500
HP:0003422	Vertebral segmentation defect	4089	SMAD4	OMIM:139210
HP:0003422	Vertebral segmentation defect	4854	NOTCH3	OMIM:130720
HP:0003422	Vertebral segmentation defect	1134	CHRNA1	OMIM:253290
HP:0003422	Vertebral segmentation defect	1144	CHRND	OMIM:253290
HP:0003422	Vertebral segmentation defect	8200	GDF5	OMIM:610017
HP:0003422	Vertebral segmentation defect	7468	NSD2	OMIM:194190
HP:0003422	Vertebral segmentation defect	10815	CPLX1	OMIM:194190
HP:0003422	Vertebral segmentation defect	1487	CTBP1	OMIM:194190
HP:0003422	Vertebral segmentation defect	53834	FGFRL1	OMIM:194190
HP:0003422	Vertebral segmentation defect	3954	LETM1	OMIM:194190
HP:0003422	Vertebral segmentation defect	5888	RAD51	ORPHA:238722
HP:0003422	Vertebral segmentation defect	10126	DNAL4	ORPHA:238722
HP:0003422	Vertebral segmentation defect	9423	NTN1	ORPHA:238722
HP:0003422	Vertebral segmentation defect	1630	DCC	ORPHA:238722
HP:0003422	Vertebral segmentation defect	2316	FLNA	OMIM:305620
HP:0003422	Vertebral segmentation defect	2316	FLNA	ORPHA:1826
HP:0003422	Vertebral segmentation defect	5167	ENPP1	ORPHA:51608
HP:0003422	Vertebral segmentation defect	368	ABCC6	ORPHA:51608
HP:0003422	Vertebral segmentation defect	22943	DKK1	ORPHA:268882
HP:0003422	Vertebral segmentation defect	6885	MAP3K7	OMIM:617137
HP:0003422	Vertebral segmentation defect	6885	MAP3K7	ORPHA:1826
HP:0003422	Vertebral segmentation defect	6885	MAP3K7	OMIM:157800
HP:0003422	Vertebral segmentation defect	1108	CHD4	OMIM:617159
HP:0003422	Vertebral segmentation defect	9939	RBM8A	ORPHA:3320
HP:0003422	Vertebral segmentation defect	9939	RBM8A	OMIM:274000
HP:0003422	Vertebral segmentation defect	9241	NOG	OMIM:184460
HP:0003422	Vertebral segmentation defect	55215	FANCI	OMIM:609053
HP:0003422	Vertebral segmentation defect	3557	IL1RN	OMIM:612852
HP:0003422	Vertebral segmentation defect	51729	WBP11	OMIM:619227
HP:0003422	Vertebral segmentation defect	4222	MEOX1	OMIM:214300
HP:0003422	Vertebral segmentation defect	90	ACVR1	ORPHA:337
HP:0003422	Vertebral segmentation defect	7547	ZIC3	OMIM:306955
HP:0003422	Vertebral segmentation defect	341640	FREM2	ORPHA:2052
HP:0003422	Vertebral segmentation defect	80144	FRAS1	ORPHA:2052
HP:0003422	Vertebral segmentation defect	23426	GRIP1	ORPHA:2052
HP:0003422	Vertebral segmentation defect	3265	HRAS	ORPHA:2612
HP:0003422	Vertebral segmentation defect	3845	KRAS	ORPHA:2612
HP:0003422	Vertebral segmentation defect	4893	NRAS	ORPHA:2612
HP:0003422	Vertebral segmentation defect	6804	STX1A	ORPHA:904
HP:0003422	Vertebral segmentation defect	7461	CLIP2	ORPHA:904
HP:0003422	Vertebral segmentation defect	84277	DNAJC30	ORPHA:904
HP:0003422	Vertebral segmentation defect	8468	FKBP6	ORPHA:904
HP:0003422	Vertebral segmentation defect	5982	RFC2	ORPHA:904
HP:0003422	Vertebral segmentation defect	2969	GTF2I	ORPHA:904
HP:0003422	Vertebral segmentation defect	3984	LIMK1	ORPHA:904
HP:0003422	Vertebral segmentation defect	9569	GTF2IRD1	ORPHA:904
HP:0003422	Vertebral segmentation defect	155382	VPS37D	ORPHA:904
HP:0003422	Vertebral segmentation defect	155368	METTL27	ORPHA:904
HP:0003422	Vertebral segmentation defect	114049	BUD23	ORPHA:904
HP:0003422	Vertebral segmentation defect	7458	EIF4H	ORPHA:904
HP:0003422	Vertebral segmentation defect	84163	GTF2IRD2	ORPHA:904
HP:0003422	Vertebral segmentation defect	26608	TBL2	ORPHA:904
HP:0003422	Vertebral segmentation defect	653361	NCF1	ORPHA:904
HP:0003422	Vertebral segmentation defect	135886	TMEM270	ORPHA:904
HP:0003422	Vertebral segmentation defect	9031	BAZ1B	ORPHA:904
HP:0003422	Vertebral segmentation defect	2006	ELN	ORPHA:904
HP:0003422	Vertebral segmentation defect	1131	CHRM3	ORPHA:2970
HP:0003422	Vertebral segmentation defect	2317	FLNB	ORPHA:503
HP:0003422	Vertebral segmentation defect	2317	FLNB	OMIM:272460
HP:0003422	Vertebral segmentation defect	54361	WNT4	ORPHA:2578
HP:0003422	Vertebral segmentation defect	6928	HNF1B	ORPHA:2578
HP:0003422	Vertebral segmentation defect	3190	HNRNPK	ORPHA:453504
HP:0003422	Vertebral segmentation defect	3190	HNRNPK	OMIM:616580
HP:0003422	Vertebral segmentation defect	3190	HNRNPK	ORPHA:352665
HP:0003422	Vertebral segmentation defect	3955	LFNG	OMIM:609813
HP:0003422	Vertebral segmentation defect	3955	LFNG	ORPHA:2311
HP:0003422	Vertebral segmentation defect	8318	CDC45	OMIM:617063
HP:0003422	Vertebral segmentation defect	8942	KYNU	OMIM:617661
HP:0003422	Vertebral segmentation defect	6911	TBX6	ORPHA:1797
HP:0003422	Vertebral segmentation defect	54499	TMCO1	ORPHA:1394
HP:0003422	Vertebral segmentation defect	145873	MESP2	OMIM:277300
HP:0003422	Vertebral segmentation defect	145873	MESP2	OMIM:608681
HP:0003422	Vertebral segmentation defect	145873	MESP2	ORPHA:2311
HP:0003422	Vertebral segmentation defect	10683	DLL3	OMIM:277300
HP:0003422	Vertebral segmentation defect	10683	DLL3	ORPHA:2311
HP:0003422	Vertebral segmentation defect	9382	COG1	OMIM:611209
HP:0003422	Vertebral segmentation defect	9382	COG1	ORPHA:263508
HP:0003422	Vertebral segmentation defect	2263	FGFR2	ORPHA:87
HP:0003422	Vertebral segmentation defect	2239	GPC4	ORPHA:373
HP:0003422	Vertebral segmentation defect	2239	GPC4	OMIM:312870
HP:0003422	Vertebral segmentation defect	2719	GPC3	ORPHA:373
HP:0003422	Vertebral segmentation defect	2719	GPC3	OMIM:312870
HP:0003422	Vertebral segmentation defect	7140	TNNT3	ORPHA:1147
HP:0003422	Vertebral segmentation defect	4621	MYH3	ORPHA:1147
HP:0003422	Vertebral segmentation defect	4621	MYH3	ORPHA:2990
HP:0003422	Vertebral segmentation defect	7169	TPM2	ORPHA:1147
HP:0003422	Vertebral segmentation defect	259232	NALCN	ORPHA:1147
HP:0003422	Vertebral segmentation defect	7136	TNNI2	ORPHA:1147
HP:0003422	Vertebral segmentation defect	134701	RIPPLY2	ORPHA:2311
HP:0003422	Vertebral segmentation defect	84667	HES7	ORPHA:2311
HP:0003422	Vertebral segmentation defect	84667	HES7	OMIM:613686
HP:0003422	Vertebral segmentation defect	55191	NADSYN1	OMIM:618845
HP:0003422	Vertebral segmentation defect	64359	NXN	ORPHA:1507
HP:0003422	Vertebral segmentation defect	4920	ROR2	ORPHA:1507
HP:0003422	Vertebral segmentation defect	1146	CHRNG	ORPHA:2990
HP:0003422	Vertebral segmentation defect	3239	HOXD13	ORPHA:887
HP:0003422	Vertebral segmentation defect	4281	MID1	ORPHA:2745
HP:0003422	Vertebral segmentation defect	1280	COL2A1	ORPHA:85198
HP:0003422	Vertebral segmentation defect	57167	SALL4	ORPHA:959
HP:0003422	Vertebral segmentation defect	168667	BMPER	OMIM:608022
HP:0003422	Vertebral segmentation defect	55252	ASXL2	OMIM:617190
HP:0003422	Vertebral segmentation defect	6910	TBX5	OMIM:142900
HP:0003422	Vertebral segmentation defect	27125	AFF4	ORPHA:444077
HP:0003422	Vertebral segmentation defect	27125	AFF4	OMIM:616368
HP:0003422	Vertebral segmentation defect	55870	ASH1L	OMIM:617796
HP:0003422	Vertebral segmentation defect	7862	BRPF1	OMIM:617333
HP:0003422	Vertebral segmentation defect	165	AEBP1	OMIM:618000
HP:0003422	Vertebral segmentation defect	84700	MYO18B	OMIM:616549
HP:0003422	Vertebral segmentation defect	1009	CDH11	OMIM:211380
HP:0003422	Vertebral segmentation defect	9935	MAFB	ORPHA:233
HP:0003422	Vertebral segmentation defect	1123	CHN1	ORPHA:233
HP:0003422	Vertebral segmentation defect	9573	GDF3	ORPHA:2345
HP:0003422	Vertebral segmentation defect	392255	GDF6	ORPHA:2345
HP:0003422	Vertebral segmentation defect	392255	GDF6	OMIM:118100
HP:0003422	Vertebral segmentation defect	2245	FGD1	ORPHA:915
HP:0003422	Vertebral segmentation defect	81839	VANGL1	ORPHA:3027
HP:0003422	Vertebral segmentation defect	80199	FUZ	ORPHA:3027
HP:0003422	Vertebral segmentation defect	10606	PAICS	OMIM:619859
HP:0003422	Vertebral segmentation defect	2260	FGFR1	OMIM:190440
HP:0003422	Vertebral segmentation defect	79158	GNPTAB	OMIM:252600
HP:0003422	Vertebral segmentation defect	1984	EIF5A	OMIM:619376
HP:0003422	Vertebral segmentation defect	10735	STAG2	OMIM:301043
HP:0003422	Vertebral segmentation defect	3021	H3-3B	OMIM:619721
HP:0003422	Vertebral segmentation defect	6872	TAF1	ORPHA:480907
HP:0003422	Vertebral segmentation defect	3110	MNX1	ORPHA:1552
HP:0003422	Vertebral segmentation defect	3110	MNX1	OMIM:176450
HP:0003422	Vertebral segmentation defect	8567	MADD	OMIM:619004
HP:0003422	Vertebral segmentation defect	5352	PLOD2	OMIM:609220
HP:0009611	Bifid distal phalanx of the thumb	55012	PPP2R3C	OMIM:618419
HP:0009611	Bifid distal phalanx of the thumb	374654	KIF7	OMIM:200990
HP:0009611	Bifid distal phalanx of the thumb	5053	PAH	ORPHA:2209
HP:0009611	Bifid distal phalanx of the thumb	124583	CANT1	OMIM:251450
HP:0009611	Bifid distal phalanx of the thumb	1855	DVL1	OMIM:616331
HP:0006498	Aplasia/Hypoplasia of the patella	10804	GJB6	ORPHA:477
HP:0006498	Aplasia/Hypoplasia of the patella	2706	GJB2	ORPHA:477
HP:0006498	Aplasia/Hypoplasia of the patella	4010	LMX1B	ORPHA:2614
HP:0006498	Aplasia/Hypoplasia of the patella	4010	LMX1B	OMIM:161200
HP:0006498	Aplasia/Hypoplasia of the patella	4010	LMX1B	ORPHA:495818
HP:0006498	Aplasia/Hypoplasia of the patella	57688	ZSWIM6	ORPHA:1827
HP:0006498	Aplasia/Hypoplasia of the patella	57688	ZSWIM6	OMIM:603671
HP:0006498	Aplasia/Hypoplasia of the patella	5307	PITX1	OMIM:119800
HP:0006498	Aplasia/Hypoplasia of the patella	55148	UBR7	OMIM:619189
HP:0006498	Aplasia/Hypoplasia of the patella	6812	STXBP1	ORPHA:495818
HP:0006498	Aplasia/Hypoplasia of the patella	29980	DONSON	OMIM:617604
HP:0006498	Aplasia/Hypoplasia of the patella	6662	SOX9	OMIM:114290
HP:0006498	Aplasia/Hypoplasia of the patella	54496	PRMT7	ORPHA:464288
HP:0006498	Aplasia/Hypoplasia of the patella	78987	CRELD1	OMIM:620771
HP:0006498	Aplasia/Hypoplasia of the patella	64682	ANAPC1	ORPHA:221008
HP:0006498	Aplasia/Hypoplasia of the patella	1146	CHRNG	OMIM:265000
HP:0006498	Aplasia/Hypoplasia of the patella	7476	WNT7A	OMIM:228930
HP:0006498	Aplasia/Hypoplasia of the patella	23522	KAT6B	OMIM:606170
HP:0006498	Aplasia/Hypoplasia of the patella	23522	KAT6B	ORPHA:85201
HP:0006498	Aplasia/Hypoplasia of the patella	727857	BHLHA9	ORPHA:3329
HP:0006498	Aplasia/Hypoplasia of the patella	64327	LMBR1	ORPHA:988
HP:0006498	Aplasia/Hypoplasia of the patella	64327	LMBR1	OMIM:135750
HP:0006498	Aplasia/Hypoplasia of the patella	6469	SHH	ORPHA:988
HP:0006498	Aplasia/Hypoplasia of the patella	157570	ESCO2	ORPHA:3103
HP:0006498	Aplasia/Hypoplasia of the patella	81620	CDT1	ORPHA:2554
HP:0006498	Aplasia/Hypoplasia of the patella	81620	CDT1	OMIM:613804
HP:0006498	Aplasia/Hypoplasia of the patella	5000	ORC4	ORPHA:2554
HP:0006498	Aplasia/Hypoplasia of the patella	5000	ORC4	OMIM:613800
HP:0006498	Aplasia/Hypoplasia of the patella	990	CDC6	ORPHA:2554
HP:0006498	Aplasia/Hypoplasia of the patella	990	CDC6	OMIM:613805
HP:0006498	Aplasia/Hypoplasia of the patella	51053	GMNN	ORPHA:2554
HP:0006498	Aplasia/Hypoplasia of the patella	51053	GMNN	OMIM:616835
HP:0006498	Aplasia/Hypoplasia of the patella	6473	SHOX	ORPHA:240
HP:0006498	Aplasia/Hypoplasia of the patella	8200	GDF5	OMIM:200700
HP:0006498	Aplasia/Hypoplasia of the patella	9496	TBX4	ORPHA:1509
HP:0006498	Aplasia/Hypoplasia of the patella	57492	ARID1B	OMIM:135900
HP:0006498	Aplasia/Hypoplasia of the patella	8318	CDC45	OMIM:617063
HP:0006498	Aplasia/Hypoplasia of the patella	4998	ORC1	OMIM:224690
HP:0006498	Aplasia/Hypoplasia of the patella	9401	RECQL4	ORPHA:1225
HP:0006498	Aplasia/Hypoplasia of the patella	9401	RECQL4	OMIM:266280
HP:0006498	Aplasia/Hypoplasia of the patella	9939	RBM8A	ORPHA:3320
HP:0006498	Aplasia/Hypoplasia of the patella	23594	ORC6	OMIM:613803
HP:0006498	Aplasia/Hypoplasia of the patella	60681	FKBP10	ORPHA:1149
HP:0005701	Multiple enchondromatosis	5781	PTPN11	OMIM:156250
HP:0005701	Multiple enchondromatosis	5781	PTPN11	ORPHA:2499
HP:0005701	Multiple enchondromatosis	1280	COL2A1	ORPHA:85198
HP:0005701	Multiple enchondromatosis	84172	POLR1B	ORPHA:861
HP:0005701	Multiple enchondromatosis	9533	POLR1C	ORPHA:861
HP:0005701	Multiple enchondromatosis	51082	POLR1D	ORPHA:861
HP:0005701	Multiple enchondromatosis	6949	TCOF1	ORPHA:861
HP:0005701	Multiple enchondromatosis	3418	IDH2	ORPHA:163634
HP:0005701	Multiple enchondromatosis	3418	IDH2	ORPHA:296
HP:0005701	Multiple enchondromatosis	3417	IDH1	ORPHA:163634
HP:0005701	Multiple enchondromatosis	3417	IDH1	ORPHA:296
HP:0005701	Multiple enchondromatosis	3417	IDH1	ORPHA:99646
HP:0005701	Multiple enchondromatosis	5745	PTH1R	ORPHA:296
HP:0005701	Multiple enchondromatosis	8379	MAD1L1	OMIM:620189
HP:0005700	Increased bone density with cystic changes	2778	GNAS	ORPHA:94089
HP:0005700	Increased bone density with cystic changes	8675	STX16	ORPHA:94089
HP:0003737	Mitochondrial myopathy	291	SLC25A4	ORPHA:254892
HP:0003737	Mitochondrial myopathy	5428	POLG	ORPHA:254892
HP:0003737	Mitochondrial myopathy	5428	POLG	ORPHA:254886
HP:0003737	Mitochondrial myopathy	5428	POLG	OMIM:613662
HP:0003737	Mitochondrial myopathy	5428	POLG	OMIM:603041
HP:0003737	Mitochondrial myopathy	5428	POLG	OMIM:258450
HP:0003737	Mitochondrial myopathy	56652	TWNK	ORPHA:254892
HP:0003737	Mitochondrial myopathy	11232	POLG2	ORPHA:254892
HP:0003737	Mitochondrial myopathy	50484	RRM2B	ORPHA:254892
HP:0003737	Mitochondrial myopathy	4574	MT-TS1	OMIM:540000
HP:0003737	Mitochondrial myopathy	4575	MT-TS2	OMIM:540000
HP:0003737	Mitochondrial myopathy	4535	MT-ND1	OMIM:540000
HP:0003737	Mitochondrial myopathy	4535	MT-ND1	ORPHA:255210
HP:0003737	Mitochondrial myopathy	4535	MT-ND1	ORPHA:2609
HP:0003737	Mitochondrial myopathy	4567	MT-TL1	OMIM:540000
HP:0003737	Mitochondrial myopathy	4567	MT-TL1	ORPHA:255210
HP:0003737	Mitochondrial myopathy	4512	MT-CO1	OMIM:540000
HP:0003737	Mitochondrial myopathy	4513	MT-CO2	OMIM:540000
HP:0003737	Mitochondrial myopathy	4514	MT-CO3	OMIM:540000
HP:0003737	Mitochondrial myopathy	4519	MT-CYB	OMIM:540000
HP:0003737	Mitochondrial myopathy	4511	MT-TC	OMIM:540000
HP:0003737	Mitochondrial myopathy	4572	MT-TQ	OMIM:540000
HP:0003737	Mitochondrial myopathy	4577	MT-TV	OMIM:540000
HP:0003737	Mitochondrial myopathy	4577	MT-TV	ORPHA:255210
HP:0003737	Mitochondrial myopathy	4578	MT-TW	OMIM:540000
HP:0003737	Mitochondrial myopathy	4578	MT-TW	ORPHA:255210
HP:0003737	Mitochondrial myopathy	4558	MT-TF	OMIM:540000
HP:0003737	Mitochondrial myopathy	4566	MT-TK	OMIM:540000
HP:0003737	Mitochondrial myopathy	4566	MT-TK	ORPHA:255210
HP:0003737	Mitochondrial myopathy	4540	MT-ND5	OMIM:540000
HP:0003737	Mitochondrial myopathy	4540	MT-ND5	ORPHA:255210
HP:0003737	Mitochondrial myopathy	4541	MT-ND6	OMIM:540000
HP:0003737	Mitochondrial myopathy	4541	MT-ND6	ORPHA:255210
HP:0003737	Mitochondrial myopathy	4536	MT-ND2	ORPHA:255210
HP:0003737	Mitochondrial myopathy	4536	MT-ND2	ORPHA:2609
HP:0003737	Mitochondrial myopathy	4537	MT-ND3	ORPHA:255210
HP:0003737	Mitochondrial myopathy	4537	MT-ND3	ORPHA:2609
HP:0003737	Mitochondrial myopathy	4538	MT-ND4	ORPHA:255210
HP:0003737	Mitochondrial myopathy	4508	MT-ATP6	ORPHA:255210
HP:0003737	Mitochondrial myopathy	4508	MT-ATP6	OMIM:551500
HP:0003737	Mitochondrial myopathy	112812	FDX2	OMIM:251900
HP:0003737	Mitochondrial myopathy	54539	NDUFB11	ORPHA:2609
HP:0003737	Mitochondrial myopathy	25915	NDUFAF3	ORPHA:2609
HP:0003737	Mitochondrial myopathy	51103	NDUFAF1	ORPHA:2609
HP:0003737	Mitochondrial myopathy	91942	NDUFAF2	ORPHA:2609
HP:0003737	Mitochondrial myopathy	51300	TIMMDC1	ORPHA:2609
HP:0003737	Mitochondrial myopathy	4716	NDUFB10	ORPHA:2609
HP:0003737	Mitochondrial myopathy	4723	NDUFV1	ORPHA:2609
HP:0003737	Mitochondrial myopathy	55572	FOXRED1	ORPHA:2609
HP:0003737	Mitochondrial myopathy	284184	NDUFAF8	ORPHA:2609
HP:0003737	Mitochondrial myopathy	55863	TMEM126B	ORPHA:2609
HP:0003737	Mitochondrial myopathy	4729	NDUFV2	ORPHA:2609
HP:0003737	Mitochondrial myopathy	4694	NDUFA1	ORPHA:2609
HP:0003737	Mitochondrial myopathy	4720	NDUFS2	ORPHA:2609
HP:0003737	Mitochondrial myopathy	4724	NDUFS4	ORPHA:2609
HP:0003737	Mitochondrial myopathy	4726	NDUFS6	ORPHA:2609
HP:0003737	Mitochondrial myopathy	4728	NDUFS8	ORPHA:2609
HP:0003737	Mitochondrial myopathy	4722	NDUFS3	ORPHA:2609
HP:0003737	Mitochondrial myopathy	79133	NDUFAF5	ORPHA:2609
HP:0003737	Mitochondrial myopathy	126328	NDUFA11	ORPHA:2609
HP:0003737	Mitochondrial myopathy	4709	NDUFB3	ORPHA:2609
HP:0003737	Mitochondrial myopathy	80224	NUBPL	ORPHA:2609
HP:0003737	Mitochondrial myopathy	29078	NDUFAF4	ORPHA:2609
HP:0003737	Mitochondrial myopathy	374291	NDUFS7	ORPHA:2609
HP:0003737	Mitochondrial myopathy	4700	NDUFA6	ORPHA:2609
HP:0003737	Mitochondrial myopathy	4719	NDUFS1	ORPHA:2609
HP:0003737	Mitochondrial myopathy	4715	NDUFB9	ORPHA:2609
HP:0003737	Mitochondrial myopathy	7084	TK2	ORPHA:254886
HP:0003737	Mitochondrial myopathy	7084	TK2	OMIM:617069
HP:0003737	Mitochondrial myopathy	859	CAV3	OMIM:123320
HP:0003737	Mitochondrial myopathy	1763	DNA2	ORPHA:352470
HP:0003737	Mitochondrial myopathy	1890	TYMP	OMIM:603041
HP:0003737	Mitochondrial myopathy	55154	MSTO1	ORPHA:502423
HP:0003737	Mitochondrial myopathy	50640	PNPLA8	OMIM:251950
HP:0003737	Mitochondrial myopathy	55750	AGK	OMIM:212350
HP:0003737	Mitochondrial myopathy	80324	PUS1	ORPHA:2598
HP:0003737	Mitochondrial myopathy	51067	YARS2	ORPHA:2598
HP:0003737	Mitochondrial myopathy	23479	ISCU	OMIM:255125
HP:0003737	Mitochondrial myopathy	4976	OPA1	ORPHA:1215
HP:0003737	Mitochondrial myopathy	4576	MT-TT	OMIM:551000
HP:0008962	Calf muscle hypoplasia	2201	FBN2	OMIM:121050
HP:0008962	Calf muscle hypoplasia	5376	PMP22	ORPHA:90658
HP:0008962	Calf muscle hypoplasia	859	CAV3	ORPHA:488650
HP:0008963	Tibialis muscle weakness	8291	DYSF	ORPHA:45448
HP:0008963	Tibialis muscle weakness	8291	DYSF	ORPHA:178400
HP:0008963	Tibialis muscle weakness	7273	TTN	OMIM:600334
HP:0008963	Tibialis muscle weakness	7273	TTN	ORPHA:178464
HP:0008963	Tibialis muscle weakness	91574	MTRFR	ORPHA:320375
HP:0008963	Tibialis muscle weakness	10020	GNE	ORPHA:602
HP:0008963	Tibialis muscle weakness	353116	RILPL1	ORPHA:98897
HP:0008963	Tibialis muscle weakness	10755	GIPC1	ORPHA:98897
HP:0008963	Tibialis muscle weakness	29967	LRP12	ORPHA:98897
HP:0008963	Tibialis muscle weakness	100996717	NOTCH2NLC	ORPHA:98897
HP:0008964	Nonprogressive muscular atrophy	59341	TRPV4	OMIM:600175
HP:0008964	Nonprogressive muscular atrophy	59341	TRPV4	ORPHA:1216
HP:0009073	Progressive proximal muscle weakness	5339	PLEC	ORPHA:254361
HP:0009073	Progressive proximal muscle weakness	4568	MT-TL2	ORPHA:663
HP:0009073	Progressive proximal muscle weakness	4567	MT-TL1	ORPHA:663
HP:0009073	Progressive proximal muscle weakness	4570	MT-TN	ORPHA:663
HP:0009073	Progressive proximal muscle weakness	4574	MT-TS1	ORPHA:663
HP:0009073	Progressive proximal muscle weakness	7084	TK2	ORPHA:254875
HP:0009073	Progressive proximal muscle weakness	203859	ANO5	ORPHA:399096
HP:0009073	Progressive proximal muscle weakness	60684	TRAPPC11	ORPHA:369847
HP:0009073	Progressive proximal muscle weakness	8291	DYSF	ORPHA:178400
HP:0009073	Progressive proximal muscle weakness	51099	ABHD5	ORPHA:98907
HP:0009073	Progressive proximal muscle weakness	57104	PNPLA2	ORPHA:98908
HP:0009073	Progressive proximal muscle weakness	4358	MPV17	OMIM:256810
HP:0009073	Progressive proximal muscle weakness	1410	CRYAB	ORPHA:399058
HP:0009073	Progressive proximal muscle weakness	4703	NEB	ORPHA:399103
HP:0009073	Progressive proximal muscle weakness	7415	VCP	OMIM:167320
HP:0009073	Progressive proximal muscle weakness	90523	MLIP	OMIM:620138
HP:0009073	Progressive proximal muscle weakness	9499	MYOT	ORPHA:98911
HP:0009073	Progressive proximal muscle weakness	11155	LDB3	ORPHA:98912
HP:0009073	Progressive proximal muscle weakness	11155	LDB3	OMIM:609452
HP:0009073	Progressive proximal muscle weakness	4556	MT-TE	ORPHA:2596
HP:0009073	Progressive proximal muscle weakness	5837	PYGM	ORPHA:368
HP:0009073	Progressive proximal muscle weakness	1303	COL12A1	ORPHA:610
HP:0009073	Progressive proximal muscle weakness	1291	COL6A1	ORPHA:610
HP:0009073	Progressive proximal muscle weakness	1292	COL6A2	ORPHA:610
HP:0009073	Progressive proximal muscle weakness	1293	COL6A3	ORPHA:610
HP:0009073	Progressive proximal muscle weakness	353116	RILPL1	ORPHA:98897
HP:0009073	Progressive proximal muscle weakness	10755	GIPC1	ORPHA:98897
HP:0009073	Progressive proximal muscle weakness	29967	LRP12	ORPHA:98897
HP:0009073	Progressive proximal muscle weakness	100996717	NOTCH2NLC	ORPHA:98897
HP:0009064	Generalized lipodystrophy	56984	PSMG2	OMIM:619183
HP:0009064	Generalized lipodystrophy	26580	BSCL2	ORPHA:363400
HP:0009064	Generalized lipodystrophy	10269	ZMPSTE24	OMIM:608612
HP:0009064	Generalized lipodystrophy	10269	ZMPSTE24	ORPHA:90154
HP:0009064	Generalized lipodystrophy	10651	MTX2	OMIM:619127
HP:0009064	Generalized lipodystrophy	4000	LMNA	OMIM:151660
HP:0009064	Generalized lipodystrophy	4000	LMNA	ORPHA:79474
HP:0009064	Generalized lipodystrophy	3763	KCNJ6	OMIM:614098
HP:0009064	Generalized lipodystrophy	857	CAV1	OMIM:612526
HP:0009064	Generalized lipodystrophy	2200	FBN1	OMIM:616914
HP:0008967	Exercise-induced muscle stiffness	487	ATP2A1	OMIM:601003
HP:0008967	Exercise-induced muscle stiffness	859	CAV3	OMIM:606072
HP:0008967	Exercise-induced muscle stiffness	5213	PFKM	OMIM:232800
HP:0008967	Exercise-induced muscle stiffness	90523	MLIP	OMIM:620138
HP:0008967	Exercise-induced muscle stiffness	6566	SLC16A1	OMIM:245340
HP:0008967	Exercise-induced muscle stiffness	5837	PYGM	ORPHA:368
HP:0008967	Exercise-induced muscle stiffness	5255	PHKA1	OMIM:300559
HP:0008967	Exercise-induced muscle stiffness	6329	SCN4A	ORPHA:99734
HP:0008968	Muscle hypertrophy of the lower extremities	79147	FKRP	OMIM:606612
HP:0008968	Muscle hypertrophy of the lower extremities	79147	FKRP	OMIM:607155
HP:0008968	Muscle hypertrophy of the lower extremities	10585	POMT1	ORPHA:86812
HP:0008968	Muscle hypertrophy of the lower extremities	4000	LMNA	ORPHA:280365
HP:0008968	Muscle hypertrophy of the lower extremities	6736	SRY	ORPHA:1772
HP:0008968	Muscle hypertrophy of the lower extremities	5921	RASA1	ORPHA:90307
HP:0008968	Muscle hypertrophy of the lower extremities	1180	CLCN1	OMIM:255700
HP:0008968	Muscle hypertrophy of the lower extremities	6445	SGCG	ORPHA:353
HP:0008968	Muscle hypertrophy of the lower extremities	7273	TTN	OMIM:603689
HP:0008968	Muscle hypertrophy of the lower extremities	7273	TTN	ORPHA:178464
HP:0008968	Muscle hypertrophy of the lower extremities	7273	TTN	OMIM:611705
HP:0008968	Muscle hypertrophy of the lower extremities	10367	MICU1	OMIM:615673
HP:0008968	Muscle hypertrophy of the lower extremities	859	CAV3	OMIM:606072
HP:0008968	Muscle hypertrophy of the lower extremities	859	CAV3	OMIM:614321
HP:0008968	Muscle hypertrophy of the lower extremities	6606	SMN1	OMIM:271150
HP:0008968	Muscle hypertrophy of the lower extremities	1756	DMD	OMIM:310200
HP:0008968	Muscle hypertrophy of the lower extremities	1756	DMD	ORPHA:206546
HP:0008968	Muscle hypertrophy of the lower extremities	1756	DMD	ORPHA:98896
HP:0008968	Muscle hypertrophy of the lower extremities	2218	FKTN	OMIM:253800
HP:0008968	Muscle hypertrophy of the lower extremities	2218	FKTN	OMIM:611615
HP:0008968	Muscle hypertrophy of the lower extremities	2218	FKTN	OMIM:611588
HP:0008968	Muscle hypertrophy of the lower extremities	274	BIN1	ORPHA:169189
HP:0008968	Muscle hypertrophy of the lower extremities	64419	MTMR14	ORPHA:169189
HP:0008968	Muscle hypertrophy of the lower extremities	4618	MYF6	ORPHA:169189
HP:0008968	Muscle hypertrophy of the lower extremities	1785	DNM2	ORPHA:169189
HP:0008968	Muscle hypertrophy of the lower extremities	6261	RYR1	ORPHA:169189
HP:0008968	Muscle hypertrophy of the lower extremities	6442	SGCA	OMIM:608099
HP:0008968	Muscle hypertrophy of the lower extremities	5339	PLEC	ORPHA:254361
HP:0008968	Muscle hypertrophy of the lower extremities	8291	DYSF	ORPHA:268
HP:0008968	Muscle hypertrophy of the lower extremities	8291	DYSF	ORPHA:45448
HP:0008968	Muscle hypertrophy of the lower extremities	825	CAPN3	ORPHA:267
HP:0008968	Muscle hypertrophy of the lower extremities	5346	PLIN1	ORPHA:280356
HP:0008968	Muscle hypertrophy of the lower extremities	729920	CRPPA	OMIM:616052
HP:0008968	Muscle hypertrophy of the lower extremities	6576	SLC25A1	OMIM:618197
HP:0008968	Muscle hypertrophy of the lower extremities	63924	CIDEC	ORPHA:435651
HP:0008968	Muscle hypertrophy of the lower extremities	400916	CHCHD10	OMIM:615048
HP:0008968	Muscle hypertrophy of the lower extremities	3736	KCNA1	ORPHA:37612
HP:0008968	Muscle hypertrophy of the lower extremities	9215	LARGE1	OMIM:608840
HP:0008968	Muscle hypertrophy of the lower extremities	9215	LARGE1	ORPHA:370968
HP:0008968	Muscle hypertrophy of the lower extremities	29925	GMPPB	ORPHA:370968
HP:0008968	Muscle hypertrophy of the lower extremities	29954	POMT2	ORPHA:370968
HP:0008968	Muscle hypertrophy of the lower extremities	29954	POMT2	ORPHA:206559
HP:0008968	Muscle hypertrophy of the lower extremities	6444	SGCD	OMIM:601287
HP:0008968	Muscle hypertrophy of the lower extremities	2483	FRG1	OMIM:158900
HP:0008968	Muscle hypertrophy of the lower extremities	146862	UNC45B	OMIM:619178
HP:0008968	Muscle hypertrophy of the lower extremities	64208	POPDC3	OMIM:618848
HP:0008968	Muscle hypertrophy of the lower extremities	55624	POMGNT1	OMIM:613157
HP:0008968	Muscle hypertrophy of the lower extremities	4625	MYH7	OMIM:255160
HP:0008968	Muscle hypertrophy of the lower extremities	80208	SPG11	OMIM:616668
HP:0008968	Muscle hypertrophy of the lower extremities	55679	LIMS2	OMIM:616827
HP:0008968	Muscle hypertrophy of the lower extremities	7555	CNBP	ORPHA:606
HP:0008968	Muscle hypertrophy of the lower extremities	203859	ANO5	OMIM:613319
HP:0008968	Muscle hypertrophy of the lower extremities	203859	ANO5	OMIM:611307
HP:0008968	Muscle hypertrophy of the lower extremities	203859	ANO5	ORPHA:206549
HP:0008968	Muscle hypertrophy of the lower extremities	9217	VAPB	ORPHA:209335
HP:0008968	Muscle hypertrophy of the lower extremities	1605	DAG1	ORPHA:280333
HP:0008968	Muscle hypertrophy of the lower extremities	84892	POMGNT2	OMIM:618135
HP:0008968	Muscle hypertrophy of the lower extremities	8557	TCAP	OMIM:601954
HP:0008968	Muscle hypertrophy of the lower extremities	54344	DPM3	ORPHA:263494
HP:0008968	Muscle hypertrophy of the lower extremities	51776	MAP3K20	OMIM:617760
HP:0008968	Muscle hypertrophy of the lower extremities	3908	LAMA2	OMIM:618138
HP:0008968	Muscle hypertrophy of the lower extremities	8449	DHX16	OMIM:618733
HP:0008968	Muscle hypertrophy of the lower extremities	367	AR	OMIM:313200
HP:0008968	Muscle hypertrophy of the lower extremities	6443	SGCB	ORPHA:119
HP:0008968	Muscle hypertrophy of the lower extremities	3156	HMGCR	OMIM:620375
HP:0008968	Muscle hypertrophy of the lower extremities	8425	LTBP4	ORPHA:98896
HP:0008968	Muscle hypertrophy of the lower extremities	5376	PMP22	ORPHA:101081
HP:0008969	Leg muscle stiffness	9829	DNAJC6	ORPHA:391411
HP:0008969	Leg muscle stiffness	5420	PODXL	ORPHA:391411
HP:0008969	Leg muscle stiffness	8867	SYNJ1	ORPHA:391411
HP:0008969	Leg muscle stiffness	8867	SYNJ1	OMIM:615530
HP:0008969	Leg muscle stiffness	55129	ANO10	ORPHA:284289
HP:0008969	Leg muscle stiffness	547	KIF1A	ORPHA:101010
HP:0008969	Leg muscle stiffness	1410	CRYAB	OMIM:608810
HP:0008969	Leg muscle stiffness	3798	KIF5A	ORPHA:100991
HP:0008969	Leg muscle stiffness	5297	PI4KA	OMIM:619621
HP:0008969	Leg muscle stiffness	23503	ZFYVE26	ORPHA:100996
HP:0008969	Leg muscle stiffness	6683	SPAST	ORPHA:100985
HP:0008969	Leg muscle stiffness	23400	ATP13A2	ORPHA:306674
HP:0008969	Leg muscle stiffness	23400	ATP13A2	OMIM:606693
HP:0008969	Leg muscle stiffness	215	ABCD1	ORPHA:139399
HP:0008969	Leg muscle stiffness	55157	DARS2	ORPHA:137898
HP:0008969	Leg muscle stiffness	4508	MT-ATP6	ORPHA:320360
HP:0008969	Leg muscle stiffness	6843	VAMP1	OMIM:108600
HP:0008969	Leg muscle stiffness	6843	VAMP1	ORPHA:251282
HP:0008969	Leg muscle stiffness	11155	LDB3	ORPHA:98912
HP:0031842	Lymphangiectasis	9780	PIEZO1	OMIM:616843
HP:0031842	Lymphangiectasis	79633	FAT4	OMIM:616006
HP:0031842	Lymphangiectasis	55072	RNF31	OMIM:620632
HP:0031842	Lymphangiectasis	1604	CD55	OMIM:226300
HP:0031842	Lymphangiectasis	147372	CCBE1	OMIM:235510
HP:0031842	Lymphangiectasis	54345	SOX18	OMIM:137940
HP:0031842	Lymphangiectasis	9508	ADAMTS3	ORPHA:2136
HP:0031842	Lymphangiectasis	2294	FOXF1	OMIM:265380
HP:0031842	Lymphangiectasis	4351	MPI	OMIM:602579
HP:0031842	Lymphangiectasis	3265	HRAS	OMIM:218040
HP:0031843	Abnormally slow thought process	1213	CLTC	OMIM:617854
HP:0031843	Abnormally slow thought process	4854	NOTCH3	ORPHA:136
HP:0031843	Abnormally slow thought process	5621	PRNP	ORPHA:466
HP:0031843	Abnormally slow thought process	3064	HTT	ORPHA:399
HP:0031843	Abnormally slow thought process	6515	SLC2A3	ORPHA:399
HP:0031843	Abnormally slow thought process	23230	VPS13A	ORPHA:2388
HP:0031843	Abnormally slow thought process	1760	DMPK	ORPHA:589821
HP:0031844	Euphoria	7305	TYROBP	OMIM:221770
HP:0031845	Abnormal libido	2488	FSHB	ORPHA:52901
HP:0031845	Abnormal libido	4221	MEN1	ORPHA:2965
HP:0031845	Abnormal libido	2260	FGFR1	ORPHA:432
HP:0031845	Abnormal libido	81848	SPRY4	ORPHA:432
HP:0031845	Abnormal libido	128674	PROKR2	ORPHA:432
HP:0031845	Abnormal libido	2253	FGF8	ORPHA:432
HP:0031845	Abnormal libido	60675	PROK2	ORPHA:432
HP:0031845	Abnormal libido	55636	CHD7	ORPHA:432
HP:0031845	Abnormal libido	6870	TACR3	ORPHA:432
HP:0031845	Abnormal libido	1848	DUSP6	ORPHA:432
HP:0031845	Abnormal libido	26012	NSMF	ORPHA:432
HP:0031845	Abnormal libido	55717	WDR11	ORPHA:432
HP:0031845	Abnormal libido	4808	NHLH2	ORPHA:432
HP:0031845	Abnormal libido	9394	HS6ST1	ORPHA:432
HP:0031845	Abnormal libido	2796	GNRH1	ORPHA:432
HP:0031845	Abnormal libido	2798	GNRHR	ORPHA:432
HP:0031845	Abnormal libido	84634	KISS1R	ORPHA:432
HP:0031845	Abnormal libido	6866	TAC3	ORPHA:432
HP:0031845	Abnormal libido	8822	FGF17	ORPHA:432
HP:0031845	Abnormal libido	3814	KISS1	ORPHA:432
HP:0031845	Abnormal libido	79798	ARMC5	ORPHA:189427
HP:0031845	Abnormal libido	23028	KDM1A	ORPHA:189427
HP:0031845	Abnormal libido	2778	GNAS	ORPHA:189427
HP:0031845	Abnormal libido	3064	HTT	ORPHA:399
HP:0031845	Abnormal libido	6515	SLC2A3	ORPHA:399
HP:0031845	Abnormal libido	84196	USP48	ORPHA:96253
HP:0031845	Abnormal libido	7157	TP53	ORPHA:96253
HP:0031845	Abnormal libido	9101	USP8	ORPHA:96253
HP:0031845	Abnormal libido	64072	CDH23	ORPHA:96253
HP:0031845	Abnormal libido	2908	NR3C1	ORPHA:96253
HP:0031845	Abnormal libido	673	BRAF	ORPHA:96253
HP:0031845	Abnormal libido	546	ATRX	ORPHA:96253
HP:0031845	Abnormal libido	215	ABCD1	ORPHA:139399
HP:0031845	Abnormal libido	1027	CDKN1B	ORPHA:652
HP:0031845	Abnormal libido	1026	CDKN1A	ORPHA:652
HP:0031845	Abnormal libido	1030	CDKN2B	ORPHA:652
HP:0031845	Abnormal libido	1031	CDKN2C	ORPHA:652
HP:0031845	Abnormal libido	190	NR0B1	ORPHA:95702
HP:0031845	Abnormal libido	654	BMP6	ORPHA:465508
HP:0031845	Abnormal libido	3077	HFE	ORPHA:465508
HP:0031845	Abnormal libido	9881	TRANK1	ORPHA:33543
HP:0031845	Abnormal libido	83550	GPR101	ORPHA:963
HP:0031845	Abnormal libido	9049	AIP	ORPHA:963
HP:0031846	Femur fracture	64132	XYLT2	OMIM:605822
HP:0031846	Femur fracture	23299	BICD2	OMIM:618291
HP:0031846	Femur fracture	10312	TCIRG1	OMIM:259700
HP:0031846	Femur fracture	8792	TNFRSF11A	OMIM:612301
HP:0031846	Femur fracture	221496	LEMD2	OMIM:619322
HP:0031849	Sleep-wake inversion	2799	GNS	OMIM:252940
HP:0031849	Sleep-wake inversion	10743	RAI1	OMIM:182290
HP:0011001	Increased bone mineral density	6448	SGSH	OMIM:252900
HP:0011001	Increased bone mineral density	138050	HGSNAT	OMIM:252930
HP:0011001	Increased bone mineral density	4669	NAGLU	OMIM:252920
HP:0011001	Increased bone mineral density	3930	LBR	OMIM:215140
HP:0011001	Increased bone mineral density	23387	SIK3	OMIM:618162
HP:0011001	Increased bone mineral density	54	ACP5	OMIM:607944
HP:0011001	Increased bone mineral density	4854	NOTCH3	OMIM:130720
HP:0011001	Increased bone mineral density	79639	TMEM53	OMIM:619727
HP:0011001	Increased bone mineral density	56172	ANKH	OMIM:123000
HP:0011001	Increased bone mineral density	6885	MAP3K7	ORPHA:1826
HP:0011001	Increased bone mineral density	26040	SETBP1	OMIM:269150
HP:0011001	Increased bone mineral density	26040	SETBP1	ORPHA:798
HP:0011001	Increased bone mineral density	388015	RTL1	ORPHA:96334
HP:0011001	Increased bone mineral density	8788	DLK1	ORPHA:96334
HP:0011001	Increased bone mineral density	55384	MEG3	ORPHA:96334
HP:0011001	Increased bone mineral density	10682	EBP	OMIM:302960
HP:0011001	Increased bone mineral density	10568	SLC34A2	ORPHA:60025
HP:0011001	Increased bone mineral density	55733	HHAT	ORPHA:1422
HP:0011001	Increased bone mineral density	5934	RBL2	OMIM:619690
HP:0011001	Increased bone mineral density	1436	CSF1R	OMIM:618476
HP:0011001	Increased bone mineral density	7415	VCP	ORPHA:329475
HP:0011001	Increased bone mineral density	203859	ANO5	OMIM:166260
HP:0011001	Increased bone mineral density	8905	AP1S2	OMIM:304340
HP:0011001	Increased bone mineral density	9365	KL	OMIM:617994
HP:0011001	Increased bone mineral density	1855	DVL1	OMIM:616331
HP:0011001	Increased bone mineral density	9842	PLEKHM1	ORPHA:210110
HP:0011001	Increased bone mineral density	6905	TBCE	ORPHA:2323
HP:0011001	Increased bone mineral density	6905	TBCE	OMIM:241410
HP:0011001	Increased bone mineral density	8878	SQSTM1	OMIM:167250
HP:0011001	Increased bone mineral density	4507	MTAP	OMIM:112250
HP:0011001	Increased bone mineral density	23516	SLC39A14	OMIM:144755
HP:0011001	Increased bone mineral density	5251	PHEX	ORPHA:89936
HP:0011001	Increased bone mineral density	2074	ERCC6	OMIM:133540
HP:0011001	Increased bone mineral density	1161	ERCC8	OMIM:216400
HP:0011001	Increased bone mineral density	4796	TONSL	ORPHA:93357
HP:0011001	Increased bone mineral density	9451	EIF2AK3	OMIM:226980
HP:0011001	Increased bone mineral density	7227	TRPS1	OMIM:190350
HP:0011001	Increased bone mineral density	10847	SRCAP	OMIM:136140
HP:0011001	Increased bone mineral density	8091	HMGA2	ORPHA:94063
HP:0011001	Increased bone mineral density	1718	DHCR24	OMIM:602398
HP:0011001	Increased bone mineral density	1718	DHCR24	ORPHA:35107
HP:0011001	Increased bone mineral density	6399	TRAPPC2	ORPHA:93284
HP:0011001	Increased bone mineral density	4041	LRP5	ORPHA:178377
HP:0011001	Increased bone mineral density	79705	LRRK1	OMIM:615198
HP:0011001	Increased bone mineral density	23592	LEMD3	ORPHA:166119
HP:0011001	Increased bone mineral density	10312	TCIRG1	OMIM:259700
HP:0011001	Increased bone mineral density	10312	TCIRG1	ORPHA:1782
HP:0011001	Increased bone mineral density	9791	PTDSS1	ORPHA:2658
HP:0011001	Increased bone mineral density	189	AGXT	OMIM:259900
HP:0011001	Increased bone mineral density	6804	STX1A	ORPHA:904
HP:0011001	Increased bone mineral density	7461	CLIP2	ORPHA:904
HP:0011001	Increased bone mineral density	84277	DNAJC30	ORPHA:904
HP:0011001	Increased bone mineral density	8468	FKBP6	ORPHA:904
HP:0011001	Increased bone mineral density	5982	RFC2	ORPHA:904
HP:0011001	Increased bone mineral density	2969	GTF2I	ORPHA:904
HP:0011001	Increased bone mineral density	3984	LIMK1	ORPHA:904
HP:0011001	Increased bone mineral density	9569	GTF2IRD1	ORPHA:904
HP:0011001	Increased bone mineral density	155382	VPS37D	ORPHA:904
HP:0011001	Increased bone mineral density	155368	METTL27	ORPHA:904
HP:0011001	Increased bone mineral density	114049	BUD23	ORPHA:904
HP:0011001	Increased bone mineral density	7458	EIF4H	ORPHA:904
HP:0011001	Increased bone mineral density	84163	GTF2IRD2	ORPHA:904
HP:0011001	Increased bone mineral density	26608	TBL2	ORPHA:904
HP:0011001	Increased bone mineral density	653361	NCF1	ORPHA:904
HP:0011001	Increased bone mineral density	135886	TMEM270	ORPHA:904
HP:0011001	Increased bone mineral density	9031	BAZ1B	ORPHA:904
HP:0011001	Increased bone mineral density	2006	ELN	ORPHA:904
HP:0011001	Increased bone mineral density	6916	TBXAS1	OMIM:231095
HP:0011001	Increased bone mineral density	1836	SLC26A2	ORPHA:628
HP:0011001	Increased bone mineral density	7486	WRN	ORPHA:902
HP:0011001	Increased bone mineral density	2778	GNAS	ORPHA:94089
HP:0011001	Increased bone mineral density	2778	GNAS	ORPHA:79443
HP:0011001	Increased bone mineral density	2778	GNAS	ORPHA:79444
HP:0011001	Increased bone mineral density	8675	STX16	ORPHA:94089
HP:0011001	Increased bone mineral density	1747	DLX3	OMIM:190320
HP:0011001	Increased bone mineral density	1747	DLX3	ORPHA:3352
HP:0011001	Increased bone mineral density	8312	AXIN1	OMIM:620558
HP:0011001	Increased bone mineral density	4286	MITF	OMIM:617306
HP:0011001	Increased bone mineral density	56975	FAM20C	OMIM:259775
HP:0011001	Increased bone mineral density	9663	LPIN2	ORPHA:77297
HP:0011001	Increased bone mineral density	5604	MAP2K1	OMIM:155950
HP:0011001	Increased bone mineral density	1513	CTSK	OMIM:265800
HP:0011001	Increased bone mineral density	1513	CTSK	ORPHA:763
HP:0011001	Increased bone mineral density	1758	DMP1	ORPHA:289176
HP:0011001	Increased bone mineral density	1758	DMP1	OMIM:241520
HP:0011001	Increased bone mineral density	5167	ENPP1	ORPHA:289176
HP:0011001	Increased bone mineral density	1186	CLCN7	OMIM:611490
HP:0011001	Increased bone mineral density	7040	TGFB1	OMIM:131300
HP:0011001	Increased bone mineral density	4160	MC4R	OMIM:618406
HP:0011001	Increased bone mineral density	55315	SLC29A3	ORPHA:1782
HP:0011001	Increased bone mineral density	8792	TNFRSF11A	ORPHA:1782
HP:0011001	Increased bone mineral density	2961	GTF2E2	OMIM:616943
HP:0011001	Increased bone mineral density	2961	GTF2E2	ORPHA:33364
HP:0011001	Increased bone mineral density	63901	FAM111A	OMIM:127000
HP:0011001	Increased bone mineral density	6522	SLC4A2	OMIM:620366
HP:0011001	Increased bone mineral density	404672	GTF2H5	ORPHA:33364
HP:0011001	Increased bone mineral density	833	CARS1	ORPHA:33364
HP:0011001	Increased bone mineral density	2068	ERCC2	ORPHA:33364
HP:0011001	Increased bone mineral density	7737	RNF113A	ORPHA:33364
HP:0011001	Increased bone mineral density	136647	MPLKIP	ORPHA:33364
HP:0011001	Increased bone mineral density	6897	TARS1	ORPHA:33364
HP:0011001	Increased bone mineral density	16	AARS1	ORPHA:33364
HP:0011001	Increased bone mineral density	2071	ERCC3	ORPHA:33364
HP:0011001	Increased bone mineral density	3339	HSPG2	ORPHA:800
HP:0011001	Increased bone mineral density	28962	OSTM1	OMIM:259720
HP:0011001	Increased bone mineral density	4982	TNFRSF11B	OMIM:239000
HP:0011001	Increased bone mineral density	4038	LRP4	ORPHA:3152
HP:0011001	Increased bone mineral density	50964	SOST	ORPHA:3152
HP:0011001	Increased bone mineral density	2629	GBA1	ORPHA:77261
HP:0011001	Increased bone mineral density	860	RUNX2	OMIM:119600
HP:0011001	Increased bone mineral density	5745	PTH1R	ORPHA:50945
HP:0011001	Increased bone mineral density	649	BMP1	OMIM:614856
HP:0011001	Increased bone mineral density	139285	AMER1	ORPHA:2780
HP:0011001	Increased bone mineral density	4000	LMNA	ORPHA:79474
HP:0011001	Increased bone mineral density	2316	FLNA	ORPHA:90650
HP:0011001	Increased bone mineral density	2316	FLNA	ORPHA:90652
HP:0011001	Increased bone mineral density	3735	KARS1	ORPHA:3240
HP:0011001	Increased bone mineral density	29887	SNX10	OMIM:615085
HP:0011001	Increased bone mineral density	29887	SNX10	ORPHA:667
HP:0011001	Increased bone mineral density	2697	GJA1	ORPHA:1522
HP:0011001	Increased bone mineral density	83706	FERMT3	OMIM:612840
HP:0011001	Increased bone mineral density	760	CA2	OMIM:259730
HP:0011001	Increased bone mineral density	760	CA2	ORPHA:2785
HP:0011001	Increased bone mineral density	8600	TNFSF11	OMIM:259710
HP:0011001	Increased bone mineral density	8600	TNFSF11	ORPHA:667
HP:0011001	Increased bone mineral density	55768	NGLY1	ORPHA:404454
HP:0002659	Increased susceptibility to fractures	10312	TCIRG1	ORPHA:210110
HP:0002659	Increased susceptibility to fractures	1186	CLCN7	ORPHA:210110
HP:0002659	Increased susceptibility to fractures	9842	PLEKHM1	ORPHA:210110
HP:0002659	Increased susceptibility to fractures	3763	KCNJ6	ORPHA:435628
HP:0002659	Increased susceptibility to fractures	3572	IL6ST	OMIM:619752
HP:0002659	Increased susceptibility to fractures	1594	CYP27B1	ORPHA:289157
HP:0002659	Increased susceptibility to fractures	120227	CYP2R1	ORPHA:289157
HP:0002659	Increased susceptibility to fractures	9368	NHERF1	OMIM:612287
HP:0002659	Increased susceptibility to fractures	1593	CYP27A1	ORPHA:909
HP:0002659	Increased susceptibility to fractures	6569	SLC34A1	OMIM:612286
HP:0002659	Increased susceptibility to fractures	6569	SLC34A1	ORPHA:3337
HP:0002659	Increased susceptibility to fractures	249	ALPL	OMIM:146300
HP:0002659	Increased susceptibility to fractures	249	ALPL	OMIM:241500
HP:0002659	Increased susceptibility to fractures	2335	FN1	ORPHA:93315
HP:0002659	Increased susceptibility to fractures	1280	COL2A1	ORPHA:93315
HP:0002659	Increased susceptibility to fractures	23314	SATB2	ORPHA:251028
HP:0002659	Increased susceptibility to fractures	171023	ASXL1	ORPHA:98849
HP:0002659	Increased susceptibility to fractures	54790	TET2	ORPHA:98849
HP:0002659	Increased susceptibility to fractures	3815	KIT	ORPHA:98849
HP:0002659	Increased susceptibility to fractures	6427	SRSF2	ORPHA:98849
HP:0002659	Increased susceptibility to fractures	118429	ANTXR2	ORPHA:2176
HP:0002659	Increased susceptibility to fractures	5352	PLOD2	OMIM:609220
HP:0002659	Increased susceptibility to fractures	3043	HBB	ORPHA:231222
HP:0002659	Increased susceptibility to fractures	54453	RIN2	ORPHA:217335
HP:0002659	Increased susceptibility to fractures	5176	SERPINF1	OMIM:613982
HP:0002659	Increased susceptibility to fractures	79798	ARMC5	ORPHA:189427
HP:0002659	Increased susceptibility to fractures	23028	KDM1A	ORPHA:189427
HP:0002659	Increased susceptibility to fractures	2778	GNAS	ORPHA:189427
HP:0002659	Increased susceptibility to fractures	55249	YY1AP1	ORPHA:79094
HP:0002659	Increased susceptibility to fractures	55249	YY1AP1	OMIM:602531
HP:0002659	Increased susceptibility to fractures	4041	LRP5	OMIM:259770
HP:0002659	Increased susceptibility to fractures	4041	LRP5	ORPHA:2788
HP:0002659	Increased susceptibility to fractures	1277	COL1A1	OMIM:166200
HP:0002659	Increased susceptibility to fractures	1277	COL1A1	OMIM:130060
HP:0002659	Increased susceptibility to fractures	1277	COL1A1	OMIM:166220
HP:0002659	Increased susceptibility to fractures	60681	FKBP10	OMIM:259450
HP:0002659	Increased susceptibility to fractures	60681	FKBP10	OMIM:610968
HP:0002659	Increased susceptibility to fractures	55768	NGLY1	ORPHA:404454
HP:0002659	Increased susceptibility to fractures	3178	HNRNPA1	ORPHA:52430
HP:0002659	Increased susceptibility to fractures	7415	VCP	ORPHA:52430
HP:0002659	Increased susceptibility to fractures	3181	HNRNPA2B1	ORPHA:52430
HP:0002659	Increased susceptibility to fractures	11107	PRDM5	ORPHA:90354
HP:0002659	Increased susceptibility to fractures	84627	ZNF469	ORPHA:90354
HP:0002659	Increased susceptibility to fractures	2542	SLC37A4	ORPHA:79259
HP:0002659	Increased susceptibility to fractures	90	ACVR1	ORPHA:337
HP:0002659	Increased susceptibility to fractures	1962	EHHADH	ORPHA:3337
HP:0002659	Increased susceptibility to fractures	2628	GATM	ORPHA:3337
HP:0002659	Increased susceptibility to fractures	137682	NDUFAF6	ORPHA:3337
HP:0002659	Increased susceptibility to fractures	4221	MEN1	ORPHA:652
HP:0002659	Increased susceptibility to fractures	1027	CDKN1B	ORPHA:652
HP:0002659	Increased susceptibility to fractures	1026	CDKN1A	ORPHA:652
HP:0002659	Increased susceptibility to fractures	1030	CDKN2B	ORPHA:652
HP:0002659	Increased susceptibility to fractures	1031	CDKN2C	ORPHA:652
HP:0002659	Increased susceptibility to fractures	9663	LPIN2	ORPHA:77297
HP:0002659	Increased susceptibility to fractures	2260	FGFR1	OMIM:166250
HP:0002659	Increased susceptibility to fractures	4358	MPV17	OMIM:256810
HP:0002659	Increased susceptibility to fractures	92344	GORAB	OMIM:231070
HP:0002659	Increased susceptibility to fractures	3081	HGD	ORPHA:56
HP:0002659	Increased susceptibility to fractures	4313	MMP2	ORPHA:371428
HP:0002659	Increased susceptibility to fractures	4323	MMP14	ORPHA:371428
HP:0002659	Increased susceptibility to fractures	1678	TIMM8A	OMIM:304700
HP:0002659	Increased susceptibility to fractures	1513	CTSK	ORPHA:763
HP:0002659	Increased susceptibility to fractures	4784	NFIX	ORPHA:561
HP:0002659	Increased susceptibility to fractures	2629	GBA1	ORPHA:77261
HP:0002659	Increased susceptibility to fractures	860	RUNX2	OMIM:119600
HP:0002659	Increased susceptibility to fractures	80025	PANK2	ORPHA:216866
HP:0002659	Increased susceptibility to fractures	55151	TMEM38B	OMIM:615066
HP:0002659	Increased susceptibility to fractures	80169	CTC1	OMIM:612199
HP:0002659	Increased susceptibility to fractures	203859	ANO5	OMIM:166260
HP:0002659	Increased susceptibility to fractures	8792	TNFRSF11A	OMIM:602080
HP:0002659	Increased susceptibility to fractures	1134	CHRNA1	OMIM:253290
HP:0002659	Increased susceptibility to fractures	1146	CHRNG	OMIM:253290
HP:0002659	Increased susceptibility to fractures	1144	CHRND	OMIM:253290
HP:0002659	Increased susceptibility to fractures	126792	B3GALT6	OMIM:615349
HP:0002659	Increased susceptibility to fractures	1278	COL1A2	OMIM:166220
HP:0002659	Increased susceptibility to fractures	1499	CTNNB1	ORPHA:54595
HP:0002659	Increased susceptibility to fractures	673	BRAF	ORPHA:54595
HP:0002659	Increased susceptibility to fractures	85446	ZFHX2	OMIM:147430
HP:0002659	Increased susceptibility to fractures	4803	NGF	ORPHA:64752
HP:0002659	Increased susceptibility to fractures	4803	NGF	OMIM:608654
HP:0002659	Increased susceptibility to fractures	4914	NTRK1	ORPHA:64752
HP:0002659	Increased susceptibility to fractures	4914	NTRK1	ORPHA:642
HP:0002659	Increased susceptibility to fractures	65125	WNK1	OMIM:201300
HP:0002659	Increased susceptibility to fractures	54463	RETREG1	OMIM:201300
HP:0002659	Increased susceptibility to fractures	6335	SCN9A	OMIM:201300
HP:0002659	Increased susceptibility to fractures	6335	SCN9A	OMIM:243000
HP:0002659	Increased susceptibility to fractures	547	KIF1A	OMIM:201300
HP:0002659	Increased susceptibility to fractures	867	CBL	ORPHA:98850
HP:0002659	Increased susceptibility to fractures	861	RUNX1	ORPHA:98850
HP:0002659	Increased susceptibility to fractures	9056	SLC7A7	ORPHA:470
HP:0002659	Increased susceptibility to fractures	595	CCND1	ORPHA:29073
HP:0002659	Increased susceptibility to fractures	9401	RECQL4	ORPHA:221016
HP:0002659	Increased susceptibility to fractures	189	AGXT	OMIM:259900
HP:0002659	Increased susceptibility to fractures	540	ATP7B	ORPHA:905
HP:0002659	Increased susceptibility to fractures	4952	OCRL	OMIM:309000
HP:0002659	Increased susceptibility to fractures	7157	TP53	ORPHA:668
HP:0002659	Increased susceptibility to fractures	5925	RB1	ORPHA:668
HP:0002659	Increased susceptibility to fractures	11200	CHEK2	ORPHA:668
HP:0002659	Increased susceptibility to fractures	54209	TREM2	OMIM:618193
HP:0002659	Increased susceptibility to fractures	51124	IER3IP1	OMIM:614231
HP:0002659	Increased susceptibility to fractures	4233	MET	OMIM:607278
HP:0002659	Increased susceptibility to fractures	79158	GNPTAB	OMIM:252500
HP:0002659	Increased susceptibility to fractures	2710	GK	OMIM:307030
HP:0002659	Increased susceptibility to fractures	5745	PTH1R	ORPHA:296
HP:0002659	Increased susceptibility to fractures	5745	PTH1R	OMIM:156400
HP:0002659	Increased susceptibility to fractures	3418	IDH2	ORPHA:296
HP:0002659	Increased susceptibility to fractures	3417	IDH1	ORPHA:296
HP:0002659	Increased susceptibility to fractures	6609	SMPD1	ORPHA:77293
HP:0002659	Increased susceptibility to fractures	7390	UROS	OMIM:263700
HP:0002659	Increased susceptibility to fractures	142680	SLC34A3	ORPHA:157215
HP:0002659	Increased susceptibility to fractures	6521	SLC4A1	OMIM:179800
HP:0002659	Increased susceptibility to fractures	4853	NOTCH2	OMIM:102500
HP:0002659	Increased susceptibility to fractures	8815	BANF1	OMIM:614008
HP:0002659	Increased susceptibility to fractures	4052	LTBP1	ORPHA:90349
HP:0002659	Increased susceptibility to fractures	30008	EFEMP2	ORPHA:90349
HP:0002659	Increased susceptibility to fractures	10516	FBLN5	ORPHA:90349
HP:0002659	Increased susceptibility to fractures	6522	SLC4A2	OMIM:620366
HP:0002659	Increased susceptibility to fractures	3977	LIFR	OMIM:601559
HP:0002659	Increased susceptibility to fractures	4507	MTAP	OMIM:112250
HP:0002659	Increased susceptibility to fractures	7305	TYROBP	OMIM:221770
HP:0002659	Increased susceptibility to fractures	8985	PLOD3	OMIM:612394
HP:0002659	Increased susceptibility to fractures	175	AGA	OMIM:208400
HP:0002659	Increased susceptibility to fractures	567	B2M	ORPHA:314652
HP:0002659	Increased susceptibility to fractures	950	SCARB2	ORPHA:77259
HP:0002659	Increased susceptibility to fractures	4613	MYCN	ORPHA:635
HP:0002659	Increased susceptibility to fractures	238	ALK	ORPHA:635
HP:0002659	Increased susceptibility to fractures	389421	LIN28B	ORPHA:635
HP:0002659	Increased susceptibility to fractures	4004	LMO1	ORPHA:635
HP:0002659	Increased susceptibility to fractures	57531	HACE1	ORPHA:635
HP:0002659	Increased susceptibility to fractures	8929	PHOX2B	ORPHA:635
HP:0002659	Increased susceptibility to fractures	10558	SPTLC1	ORPHA:36386
HP:0002659	Increased susceptibility to fractures	25923	ATL3	ORPHA:36386
HP:0002659	Increased susceptibility to fractures	9517	SPTLC2	ORPHA:36386
HP:0002659	Increased susceptibility to fractures	51062	ATL1	ORPHA:36386
HP:0002659	Increased susceptibility to fractures	8322	FZD4	OMIM:133780
HP:0002659	Increased susceptibility to fractures	875	CBS	ORPHA:394
HP:0002659	Increased susceptibility to fractures	7421	VDR	ORPHA:93160
HP:0002659	Increased susceptibility to fractures	7421	VDR	OMIM:277440
HP:0002659	Increased susceptibility to fractures	79879	CCDC134	OMIM:619795
HP:0002659	Increased susceptibility to fractures	10491	CRTAP	ORPHA:2050
HP:0002659	Increased susceptibility to fractures	10491	CRTAP	OMIM:610682
HP:0002659	Increased susceptibility to fractures	9871	SEC24D	ORPHA:2050
HP:0002659	Increased susceptibility to fractures	9871	SEC24D	OMIM:616294
HP:0002659	Increased susceptibility to fractures	5034	P4HB	ORPHA:2050
HP:0002659	Increased susceptibility to fractures	5034	P4HB	OMIM:112240
HP:0002659	Increased susceptibility to fractures	55503	TRPV6	OMIM:618188
HP:0002659	Increased susceptibility to fractures	55503	TRPV6	ORPHA:417
HP:0002659	Increased susceptibility to fractures	8518	ELP1	ORPHA:1764
HP:0002659	Increased susceptibility to fractures	2733	GLE1	ORPHA:1486
HP:0002659	Increased susceptibility to fractures	29887	SNX10	ORPHA:667
HP:0002659	Increased susceptibility to fractures	8600	TNFSF11	ORPHA:667
HP:0002659	Increased susceptibility to fractures	8600	TNFSF11	OMIM:259710
HP:0002659	Increased susceptibility to fractures	6662	SOX9	ORPHA:140
HP:0002659	Increased susceptibility to fractures	1301	COL11A1	OMIM:604841
HP:0002659	Increased susceptibility to fractures	1184	CLCN5	OMIM:300009
HP:0002659	Increased susceptibility to fractures	1184	CLCN5	OMIM:300554
HP:0002659	Increased susceptibility to fractures	846	CASR	ORPHA:417
HP:0002659	Increased susceptibility to fractures	846	CASR	OMIM:239200
HP:0002659	Increased susceptibility to fractures	2304	FOXE1	ORPHA:319487
HP:0002659	Increased susceptibility to fractures	3026	HABP2	ORPHA:319487
HP:0002659	Increased susceptibility to fractures	9562	MINPP1	ORPHA:319487
HP:0002659	Increased susceptibility to fractures	64175	P3H1	OMIM:610915
HP:0002659	Increased susceptibility to fractures	4621	MYH3	OMIM:193700
HP:0002659	Increased susceptibility to fractures	10265	IRX5	OMIM:611174
HP:0002659	Increased susceptibility to fractures	6774	STAT3	ORPHA:2314
HP:0002659	Increased susceptibility to fractures	6774	STAT3	OMIM:147060
HP:0002659	Increased susceptibility to fractures	55603	TENT5A	OMIM:617952
HP:0002659	Increased susceptibility to fractures	90993	CREB3L1	OMIM:616229
HP:0002659	Increased susceptibility to fractures	7841	MOGS	OMIM:606056
HP:0002659	Increased susceptibility to fractures	6678	SPARC	OMIM:616507
HP:0002659	Increased susceptibility to fractures	4982	TNFRSF11B	OMIM:239000
HP:0002659	Increased susceptibility to fractures	4982	TNFRSF11B	ORPHA:2801
HP:0002659	Increased susceptibility to fractures	538	ATP7A	ORPHA:565
HP:0002659	Increased susceptibility to fractures	1501	CTNND2	ORPHA:281
HP:0002659	Increased susceptibility to fractures	9037	SEMA5A	ORPHA:281
HP:0002659	Increased susceptibility to fractures	649	BMP1	OMIM:614856
HP:0002659	Increased susceptibility to fractures	7471	WNT1	ORPHA:85193
HP:0002659	Increased susceptibility to fractures	7471	WNT1	OMIM:615220
HP:0002659	Increased susceptibility to fractures	22943	DKK1	ORPHA:85193
HP:0002659	Increased susceptibility to fractures	89780	WNT3A	ORPHA:85193
HP:0002659	Increased susceptibility to fractures	760	CA2	ORPHA:2785
HP:0002659	Increased susceptibility to fractures	6611	SMS	ORPHA:3063
HP:0002659	Increased susceptibility to fractures	6611	SMS	OMIM:309583
HP:0002659	Increased susceptibility to fractures	11285	B4GALT7	OMIM:130070
HP:0002659	Increased susceptibility to fractures	4893	NRAS	OMIM:163200
HP:0002659	Increased susceptibility to fractures	3845	KRAS	OMIM:163200
HP:0002659	Increased susceptibility to fractures	3265	HRAS	OMIM:163200
HP:0002659	Increased susceptibility to fractures	51360	MBTPS2	OMIM:301014
HP:0002659	Increased susceptibility to fractures	9276	COPB2	OMIM:619884
HP:0002659	Increased susceptibility to fractures	5159	PDGFRB	OMIM:601812
HP:0002659	Increased susceptibility to fractures	23187	PHLDB1	OMIM:620639
HP:0002659	Increased susceptibility to fractures	3930	LBR	OMIM:215140
HP:0002659	Increased susceptibility to fractures	55898	UNC45A	OMIM:619377
HP:0002659	Increased susceptibility to fractures	11014	KDELR2	OMIM:619131
HP:0002659	Increased susceptibility to fractures	50484	RRM2B	OMIM:268315
HP:0002659	Increased susceptibility to fractures	8218	CLTCL1	ORPHA:453510
HP:0002659	Increased susceptibility to fractures	55315	SLC29A3	ORPHA:1782
HP:0002659	Increased susceptibility to fractures	55315	SLC29A3	ORPHA:168569
HP:0002659	Increased susceptibility to fractures	5831	PYCR1	ORPHA:2078
HP:0002659	Increased susceptibility to fractures	25913	POT1	OMIM:620368
HP:0002659	Increased susceptibility to fractures	5479	PPIB	OMIM:259440
HP:0002659	Increased susceptibility to fractures	9321	TRIP11	ORPHA:93299
HP:0002659	Increased susceptibility to fractures	166929	SGMS2	OMIM:126550
HP:0002659	Increased susceptibility to fractures	387733	IFITM5	OMIM:610967
HP:0002659	Increased susceptibility to fractures	9469	CHST3	OMIM:245600
HP:0002659	Increased susceptibility to fractures	26229	B3GAT3	OMIM:245600
HP:0002659	Increased susceptibility to fractures	26277	TINF2	ORPHA:1775
HP:0002659	Increased susceptibility to fractures	55651	NHP2	ORPHA:1775
HP:0002659	Increased susceptibility to fractures	79650	USB1	ORPHA:1775
HP:0002659	Increased susceptibility to fractures	55135	WRAP53	ORPHA:1775
HP:0002659	Increased susceptibility to fractures	51750	RTEL1	ORPHA:1775
HP:0002659	Increased susceptibility to fractures	4869	NPM1	ORPHA:1775
HP:0002659	Increased susceptibility to fractures	7012	TERC	ORPHA:1775
HP:0002659	Increased susceptibility to fractures	55505	NOP10	ORPHA:1775
HP:0002659	Increased susceptibility to fractures	5073	PARN	ORPHA:1775
HP:0002659	Increased susceptibility to fractures	7015	TERT	ORPHA:1775
HP:0002659	Increased susceptibility to fractures	1736	DKC1	ORPHA:1775
HP:0002659	Increased susceptibility to fractures	7298	TYMS	ORPHA:1775
HP:0002659	Increased susceptibility to fractures	57592	ZNF687	OMIM:616833
HP:0002659	Increased susceptibility to fractures	121340	SP7	OMIM:613849
HP:0002659	Increased susceptibility to fractures	10371	SEMA3A	ORPHA:478
HP:0002659	Increased susceptibility to fractures	81848	SPRY4	ORPHA:478
HP:0002659	Increased susceptibility to fractures	23767	FLRT3	ORPHA:478
HP:0002659	Increased susceptibility to fractures	128674	PROKR2	ORPHA:478
HP:0002659	Increased susceptibility to fractures	79625	NDNF	ORPHA:478
HP:0002659	Increased susceptibility to fractures	2253	FGF8	ORPHA:478
HP:0002659	Increased susceptibility to fractures	389549	FEZF1	ORPHA:478
HP:0002659	Increased susceptibility to fractures	1630	DCC	ORPHA:478
HP:0002659	Increased susceptibility to fractures	3730	ANOS1	ORPHA:478
HP:0002659	Increased susceptibility to fractures	54756	IL17RD	ORPHA:478
HP:0002659	Increased susceptibility to fractures	6663	SOX10	ORPHA:478
HP:0002659	Increased susceptibility to fractures	285025	CCDC141	ORPHA:478
HP:0002659	Increased susceptibility to fractures	60675	PROK2	ORPHA:478
HP:0002659	Increased susceptibility to fractures	55636	CHD7	ORPHA:478
HP:0002659	Increased susceptibility to fractures	1848	DUSP6	ORPHA:478
HP:0002659	Increased susceptibility to fractures	6870	TACR3	ORPHA:478
HP:0002659	Increased susceptibility to fractures	55717	WDR11	ORPHA:478
HP:0002659	Increased susceptibility to fractures	9394	HS6ST1	ORPHA:478
HP:0002659	Increased susceptibility to fractures	8820	HESX1	ORPHA:478
HP:0002659	Increased susceptibility to fractures	8822	FGF17	ORPHA:478
HP:0002659	Increased susceptibility to fractures	84181	CHD6	ORPHA:2108
HP:0002659	Increased susceptibility to fractures	5728	PTEN	ORPHA:137608
HP:0002659	Increased susceptibility to fractures	6904	TBCD	ORPHA:496641
HP:0002659	Increased susceptibility to fractures	8878	SQSTM1	OMIM:167250
HP:0002659	Increased susceptibility to fractures	58	ACTA1	ORPHA:171433
HP:0002659	Increased susceptibility to fractures	58	ACTA1	ORPHA:171430
HP:0002659	Increased susceptibility to fractures	4703	NEB	ORPHA:171433
HP:0002659	Increased susceptibility to fractures	4703	NEB	ORPHA:171430
HP:0002659	Increased susceptibility to fractures	10324	KLHL41	ORPHA:171433
HP:0002659	Increased susceptibility to fractures	10324	KLHL41	ORPHA:171430
HP:0002659	Increased susceptibility to fractures	7170	TPM3	ORPHA:171433
HP:0002659	Increased susceptibility to fractures	131377	KLHL40	ORPHA:171430
HP:0002659	Increased susceptibility to fractures	56203	LMOD3	ORPHA:171430
HP:0002659	Increased susceptibility to fractures	202018	TAPT1	OMIM:616897
HP:0002659	Increased susceptibility to fractures	23184	MESD	OMIM:618644
HP:0002659	Increased susceptibility to fractures	51008	ASCC1	OMIM:616867
HP:0002659	Increased susceptibility to fractures	9325	TRIP4	OMIM:616866
HP:0003468	Abnormal vertebral morphology	176	ACAN	ORPHA:93283
HP:0003468	Abnormal vertebral morphology	176	ACAN	OMIM:608361
HP:0003468	Abnormal vertebral morphology	176	ACAN	OMIM:612813
HP:0003468	Abnormal vertebral morphology	9131	AIFM1	OMIM:300232
HP:0003468	Abnormal vertebral morphology	1763	DNA2	OMIM:620819
HP:0003468	Abnormal vertebral morphology	4750	NEK1	OMIM:263520
HP:0003468	Abnormal vertebral morphology	8838	CCN6	OMIM:208230
HP:0003468	Abnormal vertebral morphology	8838	CCN6	ORPHA:1159
HP:0003468	Abnormal vertebral morphology	2720	GLB1	OMIM:230600
HP:0003468	Abnormal vertebral morphology	2720	GLB1	OMIM:253010
HP:0003468	Abnormal vertebral morphology	2720	GLB1	OMIM:230650
HP:0003468	Abnormal vertebral morphology	2720	GLB1	ORPHA:79255
HP:0003468	Abnormal vertebral morphology	755	CFAP410	OMIM:602271
HP:0003468	Abnormal vertebral morphology	538	ATP7A	OMIM:304150
HP:0003468	Abnormal vertebral morphology	538	ATP7A	ORPHA:198
HP:0003468	Abnormal vertebral morphology	5352	PLOD2	OMIM:609220
HP:0003468	Abnormal vertebral morphology	5352	PLOD2	ORPHA:2771
HP:0003468	Abnormal vertebral morphology	4125	MAN2B1	ORPHA:309282
HP:0003468	Abnormal vertebral morphology	249	ALPL	OMIM:241500
HP:0003468	Abnormal vertebral morphology	2137	EXTL3	OMIM:617425
HP:0003468	Abnormal vertebral morphology	79639	TMEM53	OMIM:619727
HP:0003468	Abnormal vertebral morphology	3764	KCNJ8	ORPHA:1517
HP:0003468	Abnormal vertebral morphology	10060	ABCC9	ORPHA:1517
HP:0003468	Abnormal vertebral morphology	10060	ABCC9	OMIM:239850
HP:0003468	Abnormal vertebral morphology	54	ACP5	OMIM:607944
HP:0003468	Abnormal vertebral morphology	54	ACP5	ORPHA:1855
HP:0003468	Abnormal vertebral morphology	60561	RINT1	OMIM:618641
HP:0003468	Abnormal vertebral morphology	54543	TOMM7	OMIM:620601
HP:0003468	Abnormal vertebral morphology	633	BGN	OMIM:300106
HP:0003468	Abnormal vertebral morphology	649	BMP1	OMIM:614856
HP:0003468	Abnormal vertebral morphology	4322	MMP13	OMIM:602111
HP:0003468	Abnormal vertebral morphology	5593	PRKG2	OMIM:619638
HP:0003468	Abnormal vertebral morphology	5593	PRKG2	OMIM:619636
HP:0003468	Abnormal vertebral morphology	10013	HDAC6	ORPHA:163966
HP:0003468	Abnormal vertebral morphology	10013	HDAC6	OMIM:300863
HP:0003468	Abnormal vertebral morphology	9719	ADAMTSL2	OMIM:231050
HP:0003468	Abnormal vertebral morphology	4952	OCRL	OMIM:309000
HP:0003468	Abnormal vertebral morphology	4952	OCRL	ORPHA:534
HP:0003468	Abnormal vertebral morphology	4089	SMAD4	OMIM:139210
HP:0003468	Abnormal vertebral morphology	4089	SMAD4	ORPHA:2588
HP:0003468	Abnormal vertebral morphology	9321	TRIP11	OMIM:184260
HP:0003468	Abnormal vertebral morphology	9321	TRIP11	ORPHA:166272
HP:0003468	Abnormal vertebral morphology	50485	SMARCAL1	ORPHA:1830
HP:0003468	Abnormal vertebral morphology	50485	SMARCAL1	OMIM:242900
HP:0003468	Abnormal vertebral morphology	2316	FLNA	OMIM:304120
HP:0003468	Abnormal vertebral morphology	3911	LAMA5	OMIM:620076
HP:0003468	Abnormal vertebral morphology	124583	CANT1	OMIM:251450
HP:0003468	Abnormal vertebral morphology	124583	CANT1	OMIM:617719
HP:0003468	Abnormal vertebral morphology	5373	PMM2	ORPHA:79318
HP:0003468	Abnormal vertebral morphology	387733	IFITM5	OMIM:610967
HP:0003468	Abnormal vertebral morphology	91252	SLC39A13	ORPHA:157965
HP:0003468	Abnormal vertebral morphology	91252	SLC39A13	OMIM:612350
HP:0003468	Abnormal vertebral morphology	1298	COL9A2	ORPHA:250984
HP:0003468	Abnormal vertebral morphology	1299	COL9A3	ORPHA:250984
HP:0003468	Abnormal vertebral morphology	54808	DYM	ORPHA:239
HP:0003468	Abnormal vertebral morphology	54808	DYM	OMIM:607326
HP:0003468	Abnormal vertebral morphology	54808	DYM	OMIM:223800
HP:0003468	Abnormal vertebral morphology	2879	GPX4	OMIM:250220
HP:0003468	Abnormal vertebral morphology	2879	GPX4	ORPHA:93317
HP:0003468	Abnormal vertebral morphology	4921	DDR2	OMIM:271665
HP:0003468	Abnormal vertebral morphology	5351	PLOD1	OMIM:225400
HP:0003468	Abnormal vertebral morphology	89970	RSPRY1	OMIM:616723
HP:0003468	Abnormal vertebral morphology	89970	RSPRY1	ORPHA:457395
HP:0003468	Abnormal vertebral morphology	4054	LTBP3	OMIM:601216
HP:0003468	Abnormal vertebral morphology	3417	IDH1	ORPHA:99646
HP:0003468	Abnormal vertebral morphology	153642	ARSK	OMIM:619698
HP:0003468	Abnormal vertebral morphology	64131	XYLT1	OMIM:615777
HP:0003468	Abnormal vertebral morphology	1278	COL1A2	OMIM:166210
HP:0003468	Abnormal vertebral morphology	9451	EIF2AK3	OMIM:226980
HP:0003468	Abnormal vertebral morphology	8985	PLOD3	OMIM:612394
HP:0003468	Abnormal vertebral morphology	3835	KIF22	ORPHA:93360
HP:0003468	Abnormal vertebral morphology	64841	GNPNAT1	OMIM:619598
HP:0003468	Abnormal vertebral morphology	6424	SFRP4	OMIM:265900
HP:0003468	Abnormal vertebral morphology	2588	GALNS	OMIM:253000
HP:0003468	Abnormal vertebral morphology	55325	UFSP2	OMIM:617974
HP:0003468	Abnormal vertebral morphology	29957	SLC25A24	OMIM:612289
HP:0003468	Abnormal vertebral morphology	9060	PAPSS2	OMIM:612847
HP:0003468	Abnormal vertebral morphology	4796	TONSL	ORPHA:93357
HP:0003468	Abnormal vertebral morphology	4796	TONSL	OMIM:271510
HP:0003468	Abnormal vertebral morphology	25839	COG4	OMIM:618150
HP:0003468	Abnormal vertebral morphology	25839	COG4	ORPHA:85172
HP:0003468	Abnormal vertebral morphology	5130	PCYT1A	ORPHA:85167
HP:0003468	Abnormal vertebral morphology	5130	PCYT1A	OMIM:608940
HP:0003468	Abnormal vertebral morphology	23233	EXOC6B	OMIM:618395
HP:0003468	Abnormal vertebral morphology	112752	IFT43	OMIM:617866
HP:0003468	Abnormal vertebral morphology	202018	TAPT1	OMIM:616897
HP:0003468	Abnormal vertebral morphology	28957	MRPS28	OMIM:618958
HP:0003468	Abnormal vertebral morphology	126792	B3GALT6	OMIM:271640
HP:0003468	Abnormal vertebral morphology	126792	B3GALT6	ORPHA:536467
HP:0003468	Abnormal vertebral morphology	126792	B3GALT6	OMIM:615349
HP:0003468	Abnormal vertebral morphology	11014	KDELR2	OMIM:619131
HP:0003468	Abnormal vertebral morphology	100	ADA	OMIM:102700
HP:0003468	Abnormal vertebral morphology	2990	GUSB	OMIM:253220
HP:0003468	Abnormal vertebral morphology	6137	RPL13	OMIM:618728
HP:0003468	Abnormal vertebral morphology	10312	TCIRG1	ORPHA:1782
HP:0003468	Abnormal vertebral morphology	55315	SLC29A3	ORPHA:1782
HP:0003468	Abnormal vertebral morphology	54187	NANS	OMIM:610442
HP:0003468	Abnormal vertebral morphology	166929	SGMS2	OMIM:126550
HP:0003468	Abnormal vertebral morphology	26229	B3GAT3	OMIM:245600
HP:0003468	Abnormal vertebral morphology	375056	MIA3	OMIM:619269
HP:0003468	Abnormal vertebral morphology	83452	RAB33B	OMIM:615222
HP:0003468	Abnormal vertebral morphology	7543	ZFX	OMIM:301118
HP:0003468	Abnormal vertebral morphology	25871	NEPRO	OMIM:618853
HP:0003468	Abnormal vertebral morphology	2737	GLI3	ORPHA:672
HP:0003468	Abnormal vertebral morphology	2737	GLI3	OMIM:146510
HP:0003468	Abnormal vertebral morphology	2737	GLI3	ORPHA:93322
HP:0003468	Abnormal vertebral morphology	9791	PTDSS1	OMIM:151050
HP:0003468	Abnormal vertebral morphology	6909	TBX2	OMIM:618223
HP:0003468	Abnormal vertebral morphology	8558	CDK10	OMIM:617694
HP:0003468	Abnormal vertebral morphology	145173	B3GLCT	OMIM:261540
HP:0003468	Abnormal vertebral morphology	5885	RAD21	OMIM:614701
HP:0003468	Abnormal vertebral morphology	6650	CAPN15	OMIM:619318
HP:0003468	Abnormal vertebral morphology	10992	SF3B2	OMIM:164210
HP:0003468	Abnormal vertebral morphology	526	ATP6V1B2	ORPHA:79500
HP:0003468	Abnormal vertebral morphology	57465	TBC1D24	ORPHA:79500
HP:0003468	Abnormal vertebral morphology	6651	SON	OMIM:617140
HP:0003468	Abnormal vertebral morphology	6651	SON	ORPHA:500150
HP:0003468	Abnormal vertebral morphology	182	JAG1	OMIM:118450
HP:0003468	Abnormal vertebral morphology	388015	RTL1	ORPHA:96334
HP:0003468	Abnormal vertebral morphology	8788	DLK1	ORPHA:96334
HP:0003468	Abnormal vertebral morphology	55384	MEG3	ORPHA:96334
HP:0003468	Abnormal vertebral morphology	55636	CHD7	ORPHA:138
HP:0003468	Abnormal vertebral morphology	55636	CHD7	OMIM:214800
HP:0003468	Abnormal vertebral morphology	9723	SEMA3E	ORPHA:138
HP:0003468	Abnormal vertebral morphology	9897	WASHC5	OMIM:220210
HP:0003468	Abnormal vertebral morphology	9897	WASHC5	ORPHA:7
HP:0003468	Abnormal vertebral morphology	55777	MBD5	OMIM:156200
HP:0003468	Abnormal vertebral morphology	60	ACTB	OMIM:604919
HP:0003468	Abnormal vertebral morphology	4998	ORC1	OMIM:224690
HP:0003468	Abnormal vertebral morphology	7476	WNT7A	OMIM:276820
HP:0003468	Abnormal vertebral morphology	28952	CCDC22	ORPHA:7
HP:0003468	Abnormal vertebral morphology	57020	VPS35L	ORPHA:7
HP:0003468	Abnormal vertebral morphology	56896	DPYSL5	ORPHA:7
HP:0003468	Abnormal vertebral morphology	26175	LYSET	OMIM:619345
HP:0003468	Abnormal vertebral morphology	22827	PUF60	OMIM:615583
HP:0003468	Abnormal vertebral morphology	8517	IKBKG	OMIM:308300
HP:0003468	Abnormal vertebral morphology	4990	SIX6	OMIM:206900
HP:0003468	Abnormal vertebral morphology	91039	DPP9	OMIM:620331
HP:0003468	Abnormal vertebral morphology	5077	PAX3	OMIM:193500
HP:0003468	Abnormal vertebral morphology	1723	DHODH	OMIM:263750
HP:0003468	Abnormal vertebral morphology	64412	GZF1	OMIM:617662
HP:0003468	Abnormal vertebral morphology	113189	CHST14	ORPHA:2953
HP:0003468	Abnormal vertebral morphology	29940	DSE	ORPHA:2953
HP:0003468	Abnormal vertebral morphology	79147	FKRP	OMIM:606612
HP:0003468	Abnormal vertebral morphology	79147	FKRP	OMIM:607155
HP:0003468	Abnormal vertebral morphology	284058	KANSL1	OMIM:610443
HP:0003468	Abnormal vertebral morphology	3081	HGD	OMIM:203500
HP:0003468	Abnormal vertebral morphology	1134	CHRNA1	OMIM:253290
HP:0003468	Abnormal vertebral morphology	1144	CHRND	OMIM:253290
HP:0003468	Abnormal vertebral morphology	8200	GDF5	OMIM:610017
HP:0003468	Abnormal vertebral morphology	5888	RAD51	ORPHA:238722
HP:0003468	Abnormal vertebral morphology	10126	DNAL4	ORPHA:238722
HP:0003468	Abnormal vertebral morphology	9423	NTN1	ORPHA:238722
HP:0003468	Abnormal vertebral morphology	1630	DCC	ORPHA:238722
HP:0003468	Abnormal vertebral morphology	368	ABCC6	ORPHA:51608
HP:0003468	Abnormal vertebral morphology	1108	CHD4	OMIM:617159
HP:0003468	Abnormal vertebral morphology	9939	RBM8A	ORPHA:3320
HP:0003468	Abnormal vertebral morphology	9939	RBM8A	OMIM:274000
HP:0003468	Abnormal vertebral morphology	9241	NOG	OMIM:184460
HP:0003468	Abnormal vertebral morphology	55215	FANCI	OMIM:609053
HP:0003468	Abnormal vertebral morphology	3557	IL1RN	OMIM:612852
HP:0003468	Abnormal vertebral morphology	4222	MEOX1	OMIM:214300
HP:0003468	Abnormal vertebral morphology	64132	XYLT2	OMIM:605822
HP:0003468	Abnormal vertebral morphology	84196	USP48	ORPHA:96253
HP:0003468	Abnormal vertebral morphology	7157	TP53	ORPHA:96253
HP:0003468	Abnormal vertebral morphology	9101	USP8	ORPHA:96253
HP:0003468	Abnormal vertebral morphology	9101	USP8	OMIM:219090
HP:0003468	Abnormal vertebral morphology	64072	CDH23	ORPHA:96253
HP:0003468	Abnormal vertebral morphology	2908	NR3C1	ORPHA:96253
HP:0003468	Abnormal vertebral morphology	673	BRAF	ORPHA:96253
HP:0003468	Abnormal vertebral morphology	546	ATRX	ORPHA:96253
HP:0003468	Abnormal vertebral morphology	595	CCND1	ORPHA:29073
HP:0003468	Abnormal vertebral morphology	7390	UROS	OMIM:263700
HP:0003468	Abnormal vertebral morphology	5034	P4HB	OMIM:112240
HP:0003468	Abnormal vertebral morphology	55603	TENT5A	OMIM:617952
HP:0003468	Abnormal vertebral morphology	10491	CRTAP	OMIM:610682
HP:0003468	Abnormal vertebral morphology	4853	NOTCH2	OMIM:102500
HP:0003468	Abnormal vertebral morphology	6611	SMS	OMIM:309583
HP:0003468	Abnormal vertebral morphology	23184	MESD	OMIM:618644
HP:0003468	Abnormal vertebral morphology	92344	GORAB	ORPHA:2078
HP:0003468	Abnormal vertebral morphology	92344	GORAB	OMIM:231070
HP:0003468	Abnormal vertebral morphology	5831	PYCR1	ORPHA:2078
HP:0003468	Abnormal vertebral morphology	90993	CREB3L1	OMIM:616229
HP:0003468	Abnormal vertebral morphology	5479	PPIB	OMIM:259440
HP:0003468	Abnormal vertebral morphology	6678	SPARC	OMIM:616507
HP:0003468	Abnormal vertebral morphology	83550	GPR101	ORPHA:963
HP:0003468	Abnormal vertebral morphology	9049	AIP	ORPHA:963
HP:0003468	Abnormal vertebral morphology	9049	AIP	OMIM:219090
HP:0003468	Abnormal vertebral morphology	60681	FKBP10	OMIM:610968
HP:0003468	Abnormal vertebral morphology	4313	MMP2	OMIM:259600
HP:0003468	Abnormal vertebral morphology	2629	GBA1	OMIM:230800
HP:0003468	Abnormal vertebral morphology	2629	GBA1	ORPHA:77259
HP:0003468	Abnormal vertebral morphology	5176	SERPINF1	OMIM:613982
HP:0003468	Abnormal vertebral morphology	8792	TNFRSF11A	OMIM:602080
HP:0003468	Abnormal vertebral morphology	7471	WNT1	ORPHA:85193
HP:0003468	Abnormal vertebral morphology	22943	DKK1	ORPHA:85193
HP:0003468	Abnormal vertebral morphology	89780	WNT3A	ORPHA:85193
HP:0003468	Abnormal vertebral morphology	4041	LRP5	OMIM:259770
HP:0003468	Abnormal vertebral morphology	871	SERPINH1	OMIM:613848
HP:0003468	Abnormal vertebral morphology	4773	NFATC2	OMIM:620232
HP:0003468	Abnormal vertebral morphology	950	SCARB2	ORPHA:77259
HP:0003468	Abnormal vertebral morphology	134218	DNAJC21	ORPHA:811
HP:0003468	Abnormal vertebral morphology	79631	EFL1	ORPHA:811
HP:0003468	Abnormal vertebral morphology	51119	SBDS	ORPHA:811
HP:0003468	Abnormal vertebral morphology	64175	P3H1	OMIM:610915
HP:0003468	Abnormal vertebral morphology	10940	POP1	OMIM:617396
HP:0003468	Abnormal vertebral morphology	3549	IHH	ORPHA:63446
HP:0003468	Abnormal vertebral morphology	3549	IHH	OMIM:607778
HP:0003468	Abnormal vertebral morphology	4052	LTBP1	OMIM:619451
HP:0003468	Abnormal vertebral morphology	2517	FUCA1	OMIM:230000
HP:0003468	Abnormal vertebral morphology	411	ARSB	OMIM:253200
HP:0003468	Abnormal vertebral morphology	3977	LIFR	OMIM:601559
HP:0003468	Abnormal vertebral morphology	6729	SRP54	OMIM:260400
HP:0003468	Abnormal vertebral morphology	89910	UBE3B	OMIM:244450
HP:0003468	Abnormal vertebral morphology	79158	GNPTAB	OMIM:252500
HP:0003468	Abnormal vertebral morphology	84068	SLC10A7	OMIM:618363
HP:0003468	Abnormal vertebral morphology	8443	GNPAT	OMIM:222765
HP:0003468	Abnormal vertebral morphology	6448	SGSH	OMIM:252900
HP:0003468	Abnormal vertebral morphology	4669	NAGLU	OMIM:252920
HP:0003468	Abnormal vertebral morphology	7291	TWIST1	ORPHA:794
HP:0003468	Abnormal vertebral morphology	2263	FGFR2	ORPHA:794
HP:0003468	Abnormal vertebral morphology	2261	FGFR3	ORPHA:794
HP:0003468	Abnormal vertebral morphology	2261	FGFR3	ORPHA:429
HP:0003468	Abnormal vertebral morphology	2261	FGFR3	ORPHA:93262
HP:0003468	Abnormal vertebral morphology	5573	PRKAR1A	ORPHA:950
HP:0003468	Abnormal vertebral morphology	5144	PDE4D	ORPHA:950
HP:0003468	Abnormal vertebral morphology	7421	VDR	ORPHA:93160
HP:0003468	Abnormal vertebral morphology	9871	SEC24D	ORPHA:2050
HP:0003468	Abnormal vertebral morphology	2733	GLE1	ORPHA:1486
HP:0003468	Abnormal vertebral morphology	652	BMP4	ORPHA:828
HP:0003468	Abnormal vertebral morphology	3636	INPPL1	ORPHA:3144
HP:0003468	Abnormal vertebral morphology	23169	SLC35D1	ORPHA:3144
HP:0003468	Abnormal vertebral morphology	6916	TBXAS1	ORPHA:1802
HP:0003468	Abnormal vertebral morphology	4758	NEU1	ORPHA:93399
HP:0003468	Abnormal vertebral morphology	4758	NEU1	ORPHA:812
HP:0003468	Abnormal vertebral morphology	8085	KMT2D	ORPHA:2322
HP:0003468	Abnormal vertebral morphology	7403	KDM6A	ORPHA:2322
HP:0003468	Abnormal vertebral morphology	100996717	NOTCH2NLC	ORPHA:2289
HP:0003468	Abnormal vertebral morphology	1717	DHCR7	ORPHA:818
HP:0003468	Abnormal vertebral morphology	4038	LRP4	ORPHA:3258
HP:0003468	Abnormal vertebral morphology	324	APC	ORPHA:3258
HP:0003468	Abnormal vertebral morphology	6023	RMRP	ORPHA:175
HP:0003468	Abnormal vertebral morphology	9469	CHST3	ORPHA:263463
HP:0003468	Abnormal vertebral morphology	134701	RIPPLY2	ORPHA:2311
HP:0003468	Abnormal vertebral morphology	10683	DLL3	ORPHA:2311
HP:0003468	Abnormal vertebral morphology	3955	LFNG	ORPHA:2311
HP:0003468	Abnormal vertebral morphology	84667	HES7	ORPHA:2311
HP:0003468	Abnormal vertebral morphology	145873	MESP2	ORPHA:2311
HP:0003468	Abnormal vertebral morphology	64093	SMOC1	ORPHA:1106
HP:0003468	Abnormal vertebral morphology	2697	GJA1	ORPHA:2710
HP:0003468	Abnormal vertebral morphology	4323	MMP14	ORPHA:371428
HP:0003468	Abnormal vertebral morphology	4854	NOTCH3	ORPHA:2789
HP:0003468	Abnormal vertebral morphology	1301	COL11A1	ORPHA:2021
HP:0003468	Abnormal vertebral morphology	53834	FGFRL1	OMIM:194190
HP:0003468	Abnormal vertebral morphology	2313	FLI1	ORPHA:2308
HP:0003468	Abnormal vertebral morphology	9361	LONP1	ORPHA:1458
HP:0003468	Abnormal vertebral morphology	6885	MAP3K7	ORPHA:3238
HP:0003468	Abnormal vertebral morphology	57167	SALL4	ORPHA:233
HP:0003468	Abnormal vertebral morphology	9935	MAFB	ORPHA:233
HP:0003468	Abnormal vertebral morphology	1123	CHN1	ORPHA:233
HP:0003468	Abnormal vertebral morphology	1311	COMP	ORPHA:750
HP:0003468	Abnormal vertebral morphology	9851	KIAA0753	ORPHA:475
HP:0003468	Abnormal vertebral morphology	5147	PDE6D	ORPHA:475
HP:0003468	Abnormal vertebral morphology	79600	TCTN1	ORPHA:475
HP:0003468	Abnormal vertebral morphology	79848	CSPP1	ORPHA:475
HP:0003468	Abnormal vertebral morphology	8481	OFD1	ORPHA:475
HP:0003468	Abnormal vertebral morphology	65250	CPLANE1	ORPHA:475
HP:0003468	Abnormal vertebral morphology	91147	TMEM67	ORPHA:475
HP:0003468	Abnormal vertebral morphology	200894	ARL13B	ORPHA:475
HP:0003468	Abnormal vertebral morphology	9731	CEP104	ORPHA:475
HP:0003468	Abnormal vertebral morphology	219844	HYLS1	ORPHA:475
HP:0003468	Abnormal vertebral morphology	23247	KATNIP	ORPHA:475
HP:0003468	Abnormal vertebral morphology	219854	TMEM218	ORPHA:475
HP:0003468	Abnormal vertebral morphology	9786	KIAA0586	ORPHA:475
HP:0003468	Abnormal vertebral morphology	26123	TCTN3	ORPHA:475
HP:0003468	Abnormal vertebral morphology	79867	TCTN2	ORPHA:475
HP:0003468	Abnormal vertebral morphology	80776	B9D2	ORPHA:475
HP:0003468	Abnormal vertebral morphology	10464	PIBF1	ORPHA:475
HP:0003468	Abnormal vertebral morphology	80210	ARMC9	ORPHA:475
HP:0003468	Abnormal vertebral morphology	23116	TOGARAM1	ORPHA:475
HP:0003468	Abnormal vertebral morphology	25776	CBY1	ORPHA:475
HP:0003468	Abnormal vertebral morphology	27077	B9D1	ORPHA:475
HP:0003468	Abnormal vertebral morphology	403	ARL3	ORPHA:475
HP:0003468	Abnormal vertebral morphology	80173	IFT74	ORPHA:475
HP:0003468	Abnormal vertebral morphology	65062	TMEM237	ORPHA:475
HP:0003468	Abnormal vertebral morphology	6197	RPS6KA3	ORPHA:192
HP:0003468	Abnormal vertebral morphology	1857	DVL3	ORPHA:3107
HP:0003468	Abnormal vertebral morphology	7474	WNT5A	ORPHA:3107
HP:0003468	Abnormal vertebral morphology	1855	DVL1	ORPHA:3107
HP:0003468	Abnormal vertebral morphology	2535	FZD2	ORPHA:3107
HP:0003468	Abnormal vertebral morphology	6804	STX1A	ORPHA:904
HP:0003468	Abnormal vertebral morphology	7461	CLIP2	ORPHA:904
HP:0003468	Abnormal vertebral morphology	84277	DNAJC30	ORPHA:904
HP:0003468	Abnormal vertebral morphology	8468	FKBP6	ORPHA:904
HP:0003468	Abnormal vertebral morphology	5982	RFC2	ORPHA:904
HP:0003468	Abnormal vertebral morphology	2969	GTF2I	ORPHA:904
HP:0003468	Abnormal vertebral morphology	3984	LIMK1	ORPHA:904
HP:0003468	Abnormal vertebral morphology	9569	GTF2IRD1	ORPHA:904
HP:0003468	Abnormal vertebral morphology	155382	VPS37D	ORPHA:904
HP:0003468	Abnormal vertebral morphology	155368	METTL27	ORPHA:904
HP:0003468	Abnormal vertebral morphology	114049	BUD23	ORPHA:904
HP:0003468	Abnormal vertebral morphology	7458	EIF4H	ORPHA:904
HP:0003468	Abnormal vertebral morphology	84163	GTF2IRD2	ORPHA:904
HP:0003468	Abnormal vertebral morphology	26608	TBL2	ORPHA:904
HP:0003468	Abnormal vertebral morphology	653361	NCF1	ORPHA:904
HP:0003468	Abnormal vertebral morphology	135886	TMEM270	ORPHA:904
HP:0003468	Abnormal vertebral morphology	9031	BAZ1B	ORPHA:904
HP:0003468	Abnormal vertebral morphology	2006	ELN	ORPHA:904
HP:0003468	Abnormal vertebral morphology	1836	SLC26A2	ORPHA:628
HP:0003468	Abnormal vertebral morphology	207	AKT1	ORPHA:744
HP:0003468	Abnormal vertebral morphology	2260	FGFR1	ORPHA:2645
HP:0003468	Abnormal vertebral morphology	26137	ZBTB20	ORPHA:3042
HP:0003468	Abnormal vertebral morphology	59341	TRPV4	ORPHA:2635
HP:0003468	Abnormal vertebral morphology	100151683	RNU4ATAC	ORPHA:2636
HP:0003468	Abnormal vertebral morphology	4882	NPR2	ORPHA:40
HP:0003468	Abnormal vertebral morphology	3930	LBR	ORPHA:1426
HP:0003468	Abnormal vertebral morphology	10262	SF3B4	ORPHA:1788
HP:0003468	Abnormal vertebral morphology	4352	MPL	ORPHA:3319
HP:0003468	Abnormal vertebral morphology	7066	THPO	ORPHA:3319
HP:0003468	Abnormal vertebral morphology	84168	ANTXR1	ORPHA:2067
HP:0003468	Abnormal vertebral morphology	2200	FBN1	ORPHA:2462
HP:0003468	Abnormal vertebral morphology	6497	SKI	ORPHA:2462
HP:0003468	Abnormal vertebral morphology	63895	PIEZO2	ORPHA:2461
HP:0003468	Abnormal vertebral morphology	10526	IPO8	OMIM:619472
HP:0003468	Abnormal vertebral morphology	79087	ALG12	OMIM:607143
HP:0003468	Abnormal vertebral morphology	55593	OTUD5	OMIM:301056
HP:0003468	Abnormal vertebral morphology	23498	HAAO	OMIM:617660
HP:0003468	Abnormal vertebral morphology	55790	CSGALNACT1	OMIM:618870
HP:0003468	Abnormal vertebral morphology	51729	WBP11	OMIM:619227
HP:0003468	Abnormal vertebral morphology	6309	SC5D	OMIM:607330
HP:0003468	Abnormal vertebral morphology	55699	IARS2	OMIM:616007
HP:0003468	Abnormal vertebral morphology	8854	ALDH1A2	OMIM:620025
HP:0003468	Abnormal vertebral morphology	5191	PEX7	OMIM:215100
HP:0003468	Abnormal vertebral morphology	341640	FREM2	ORPHA:2052
HP:0003468	Abnormal vertebral morphology	80144	FRAS1	ORPHA:2052
HP:0003468	Abnormal vertebral morphology	23426	GRIP1	ORPHA:2052
HP:0003468	Abnormal vertebral morphology	3265	HRAS	ORPHA:2612
HP:0003468	Abnormal vertebral morphology	3845	KRAS	ORPHA:2612
HP:0003468	Abnormal vertebral morphology	4893	NRAS	ORPHA:2612
HP:0003468	Abnormal vertebral morphology	1131	CHRM3	ORPHA:2970
HP:0003468	Abnormal vertebral morphology	2317	FLNB	ORPHA:503
HP:0003468	Abnormal vertebral morphology	2317	FLNB	OMIM:272460
HP:0003468	Abnormal vertebral morphology	54361	WNT4	ORPHA:2578
HP:0003468	Abnormal vertebral morphology	6928	HNF1B	ORPHA:2578
HP:0003468	Abnormal vertebral morphology	3190	HNRNPK	ORPHA:453504
HP:0003468	Abnormal vertebral morphology	3190	HNRNPK	OMIM:616580
HP:0003468	Abnormal vertebral morphology	3190	HNRNPK	ORPHA:352665
HP:0003468	Abnormal vertebral morphology	8318	CDC45	OMIM:617063
HP:0003468	Abnormal vertebral morphology	8942	KYNU	OMIM:617661
HP:0003468	Abnormal vertebral morphology	6911	TBX6	ORPHA:1797
HP:0003468	Abnormal vertebral morphology	54499	TMCO1	ORPHA:1394
HP:0003468	Abnormal vertebral morphology	9382	COG1	OMIM:611209
HP:0003468	Abnormal vertebral morphology	9382	COG1	ORPHA:263508
HP:0003468	Abnormal vertebral morphology	2239	GPC4	ORPHA:373
HP:0003468	Abnormal vertebral morphology	2239	GPC4	OMIM:312870
HP:0003468	Abnormal vertebral morphology	2719	GPC3	ORPHA:373
HP:0003468	Abnormal vertebral morphology	2719	GPC3	OMIM:312870
HP:0003468	Abnormal vertebral morphology	7140	TNNT3	ORPHA:1147
HP:0003468	Abnormal vertebral morphology	4621	MYH3	ORPHA:1147
HP:0003468	Abnormal vertebral morphology	4621	MYH3	ORPHA:2990
HP:0003468	Abnormal vertebral morphology	7169	TPM2	ORPHA:1147
HP:0003468	Abnormal vertebral morphology	259232	NALCN	ORPHA:1147
HP:0003468	Abnormal vertebral morphology	7136	TNNI2	ORPHA:1147
HP:0003468	Abnormal vertebral morphology	55191	NADSYN1	OMIM:618845
HP:0003468	Abnormal vertebral morphology	64359	NXN	ORPHA:1507
HP:0003468	Abnormal vertebral morphology	4920	ROR2	ORPHA:1507
HP:0003468	Abnormal vertebral morphology	1146	CHRNG	ORPHA:2990
HP:0003468	Abnormal vertebral morphology	3239	HOXD13	ORPHA:887
HP:0003468	Abnormal vertebral morphology	4281	MID1	ORPHA:2745
HP:0003468	Abnormal vertebral morphology	168667	BMPER	OMIM:608022
HP:0003468	Abnormal vertebral morphology	5476	CTSA	ORPHA:351
HP:0003468	Abnormal vertebral morphology	2187	FANCB	OMIM:300514
HP:0003468	Abnormal vertebral morphology	2187	FANCB	OMIM:314390
HP:0003468	Abnormal vertebral morphology	2335	FN1	ORPHA:93315
HP:0003468	Abnormal vertebral morphology	1280	COL2A1	ORPHA:93315
HP:0003468	Abnormal vertebral morphology	1280	COL2A1	ORPHA:93346
HP:0003468	Abnormal vertebral morphology	91754	NEK9	ORPHA:64754
HP:0003468	Abnormal vertebral morphology	23028	KDM1A	OMIM:616728
HP:0003468	Abnormal vertebral morphology	65992	DDRGK1	ORPHA:93352
HP:0003468	Abnormal vertebral morphology	3425	IDUA	ORPHA:93473
HP:0003468	Abnormal vertebral morphology	3425	IDUA	ORPHA:93476
HP:0003468	Abnormal vertebral morphology	90459	ERI1	OMIM:620662
HP:0003468	Abnormal vertebral morphology	5745	PTH1R	OMIM:215045
HP:0003468	Abnormal vertebral morphology	28514	DLL1	OMIM:618709
HP:0003468	Abnormal vertebral morphology	28514	DLL1	ORPHA:280195
HP:0003468	Abnormal vertebral morphology	64324	NSD1	ORPHA:821
HP:0003468	Abnormal vertebral morphology	10297	APC2	ORPHA:821
HP:0003468	Abnormal vertebral morphology	5447	POR	ORPHA:95699
HP:0003468	Abnormal vertebral morphology	27125	AFF4	ORPHA:444077
HP:0003468	Abnormal vertebral morphology	78989	COLEC11	OMIM:265050
HP:0003468	Abnormal vertebral morphology	7547	ZIC3	OMIM:314390
HP:0003468	Abnormal vertebral morphology	26275	HIBCH	ORPHA:88639
HP:0003468	Abnormal vertebral morphology	26275	HIBCH	OMIM:250620
HP:0003468	Abnormal vertebral morphology	2253	FGF8	ORPHA:280195
HP:0003468	Abnormal vertebral morphology	6496	SIX3	ORPHA:280195
HP:0003468	Abnormal vertebral morphology	7050	TGIF1	ORPHA:280195
HP:0003468	Abnormal vertebral morphology	4838	NODAL	ORPHA:280195
HP:0003468	Abnormal vertebral morphology	6469	SHH	ORPHA:280195
HP:0003468	Abnormal vertebral morphology	7546	ZIC2	ORPHA:280195
HP:0003468	Abnormal vertebral morphology	6491	STIL	ORPHA:280195
HP:0003468	Abnormal vertebral morphology	2619	GAS1	ORPHA:280195
HP:0003468	Abnormal vertebral morphology	84976	DISP1	ORPHA:280195
HP:0003468	Abnormal vertebral morphology	2736	GLI2	ORPHA:280195
HP:0003468	Abnormal vertebral morphology	8928	FOXH1	ORPHA:280195
HP:0003468	Abnormal vertebral morphology	6997	CRIPTO	ORPHA:280195
HP:0003468	Abnormal vertebral morphology	5727	PTCH1	ORPHA:280195
HP:0003468	Abnormal vertebral morphology	5727	PTCH1	ORPHA:377
HP:0003468	Abnormal vertebral morphology	50937	CDON	ORPHA:280195
HP:0003468	Abnormal vertebral morphology	54806	AHI1	ORPHA:220493
HP:0003468	Abnormal vertebral morphology	56623	INPP5E	ORPHA:220493
HP:0003468	Abnormal vertebral morphology	153241	CEP120	ORPHA:220493
HP:0003468	Abnormal vertebral morphology	54903	MKS1	ORPHA:220493
HP:0003468	Abnormal vertebral morphology	95681	CEP41	ORPHA:220493
HP:0003468	Abnormal vertebral morphology	6299	SALL1	ORPHA:857
HP:0003468	Abnormal vertebral morphology	51339	DACT1	ORPHA:857
HP:0003468	Abnormal vertebral morphology	84919	PPP1R15B	OMIM:616817
HP:0003468	Abnormal vertebral morphology	90	ACVR1	ORPHA:337
HP:0003468	Abnormal vertebral morphology	3423	IDS	ORPHA:217093
HP:0003468	Abnormal vertebral morphology	3423	IDS	ORPHA:217085
HP:0003468	Abnormal vertebral morphology	8643	PTCH2	ORPHA:377
HP:0003468	Abnormal vertebral morphology	51684	SUFU	ORPHA:377
HP:0003468	Abnormal vertebral morphology	6657	SOX2	ORPHA:77298
HP:0003468	Abnormal vertebral morphology	1300	COL10A1	ORPHA:174
HP:0003468	Abnormal vertebral morphology	51360	MBTPS2	ORPHA:2273
HP:0003468	Abnormal vertebral morphology	157570	ESCO2	ORPHA:2319
HP:0003468	Abnormal vertebral morphology	1302	COL11A2	ORPHA:1427
HP:0003468	Abnormal vertebral morphology	9401	RECQL4	OMIM:218600
HP:0003468	Abnormal vertebral morphology	2294	FOXF1	ORPHA:210122
HP:0003468	Abnormal vertebral morphology	10815	CPLX1	ORPHA:280
HP:0003468	Abnormal vertebral morphology	54872	PIGG	ORPHA:280
HP:0003468	Abnormal vertebral morphology	7469	NELFA	ORPHA:280
HP:0003468	Abnormal vertebral morphology	1487	CTBP1	ORPHA:280
HP:0003468	Abnormal vertebral morphology	3954	LETM1	ORPHA:280
HP:0003468	Abnormal vertebral morphology	7468	NSD2	ORPHA:280
HP:0003468	Abnormal vertebral morphology	25970	SH2B1	ORPHA:261197
HP:0003468	Abnormal vertebral morphology	175	AGA	ORPHA:93
HP:0003468	Abnormal vertebral morphology	374654	KIF7	ORPHA:166024
HP:0003468	Abnormal vertebral morphology	6862	TBXT	OMIM:615709
HP:0003468	Abnormal vertebral morphology	57647	DHX37	OMIM:618731
HP:0003468	Abnormal vertebral morphology	4763	NF1	ORPHA:97685
HP:0003468	Abnormal vertebral morphology	51025	PAM16	OMIM:613320
HP:0003468	Abnormal vertebral morphology	23187	PHLDB1	OMIM:620639
HP:0003468	Abnormal vertebral morphology	5331	PLCB3	OMIM:618961
HP:0003468	Abnormal vertebral morphology	285590	SH3PXD2B	ORPHA:137834
HP:0003468	Abnormal vertebral morphology	138050	HGSNAT	OMIM:252930
HP:0003468	Abnormal vertebral morphology	9820	CUL7	ORPHA:2616
HP:0003468	Abnormal vertebral morphology	9820	CUL7	OMIM:273750
HP:0003468	Abnormal vertebral morphology	23363	OBSL1	ORPHA:2616
HP:0003468	Abnormal vertebral morphology	83987	CCDC8	ORPHA:2616
HP:0003468	Abnormal vertebral morphology	83987	CCDC8	OMIM:614205
HP:0003468	Abnormal vertebral morphology	83737	ITCH	OMIM:613385
HP:0003468	Abnormal vertebral morphology	50964	SOST	OMIM:269500
HP:0003468	Abnormal vertebral morphology	1758	DMP1	ORPHA:289176
HP:0003468	Abnormal vertebral morphology	5167	ENPP1	ORPHA:289176
HP:0003468	Abnormal vertebral morphology	79705	LRRK1	OMIM:615198
HP:0003468	Abnormal vertebral morphology	64802	NMNAT1	OMIM:619260
HP:0003468	Abnormal vertebral morphology	875	CBS	OMIM:236200
HP:0003468	Abnormal vertebral morphology	4149	MAX	OMIM:620712
HP:0003468	Abnormal vertebral morphology	55112	DYNC2I1	ORPHA:93271
HP:0003468	Abnormal vertebral morphology	57560	IFT80	ORPHA:93271
HP:0003468	Abnormal vertebral morphology	57539	WDR35	ORPHA:93271
HP:0003468	Abnormal vertebral morphology	79659	DYNC2H1	ORPHA:93271
HP:0003468	Abnormal vertebral morphology	89891	DYNC2I2	ORPHA:93271
HP:0003468	Abnormal vertebral morphology	55252	ASXL2	OMIM:617190
HP:0003468	Abnormal vertebral morphology	6910	TBX5	OMIM:142900
HP:0003468	Abnormal vertebral morphology	55870	ASH1L	OMIM:617796
HP:0003468	Abnormal vertebral morphology	7862	BRPF1	OMIM:617333
HP:0003468	Abnormal vertebral morphology	84700	MYO18B	OMIM:616549
HP:0003468	Abnormal vertebral morphology	9896	FIG4	OMIM:216340
HP:0003468	Abnormal vertebral morphology	53335	BCL11A	OMIM:617101
HP:0003468	Abnormal vertebral morphology	1186	CLCN7	ORPHA:210110
HP:0003468	Abnormal vertebral morphology	9842	PLEKHM1	ORPHA:210110
HP:0003468	Abnormal vertebral morphology	8312	AXIN1	OMIM:620558
HP:0003468	Abnormal vertebral morphology	55733	HHAT	OMIM:600092
HP:0003468	Abnormal vertebral morphology	29893	PSMC3IP	ORPHA:243
HP:0003468	Abnormal vertebral morphology	171568	POLR3H	ORPHA:243
HP:0003468	Abnormal vertebral morphology	2516	NR5A1	ORPHA:243
HP:0003468	Abnormal vertebral morphology	125150	ZSWIM7	ORPHA:243
HP:0003468	Abnormal vertebral morphology	9210	BMP15	ORPHA:243
HP:0003468	Abnormal vertebral morphology	57122	NUP107	ORPHA:243
HP:0003468	Abnormal vertebral morphology	23514	SPIDR	ORPHA:243
HP:0003468	Abnormal vertebral morphology	2492	FSHR	ORPHA:243
HP:0003468	Abnormal vertebral morphology	56945	MRPS22	ORPHA:243
HP:0003468	Abnormal vertebral morphology	646	BNC1	ORPHA:243
HP:0003468	Abnormal vertebral morphology	4438	MSH4	ORPHA:243
HP:0003468	Abnormal vertebral morphology	5626	PROP1	ORPHA:95494
HP:0003468	Abnormal vertebral morphology	5626	PROP1	ORPHA:90695
HP:0003468	Abnormal vertebral morphology	89884	LHX4	ORPHA:95494
HP:0003468	Abnormal vertebral morphology	3170	FOXA2	ORPHA:95494
HP:0003468	Abnormal vertebral morphology	5449	POU1F1	ORPHA:95494
HP:0003468	Abnormal vertebral morphology	8820	HESX1	ORPHA:95494
HP:0003468	Abnormal vertebral morphology	5015	OTX2	ORPHA:95494
HP:0003468	Abnormal vertebral morphology	860	RUNX2	OMIM:156510
HP:0003468	Abnormal vertebral morphology	6658	SOX3	ORPHA:90695
HP:0003468	Abnormal vertebral morphology	9573	GDF3	ORPHA:2345
HP:0003468	Abnormal vertebral morphology	392255	GDF6	ORPHA:2345
HP:0003468	Abnormal vertebral morphology	392255	GDF6	OMIM:118100
HP:0003468	Abnormal vertebral morphology	2245	FGD1	ORPHA:915
HP:0003468	Abnormal vertebral morphology	79879	CCDC134	OMIM:619795
HP:0003468	Abnormal vertebral morphology	4148	MATN3	ORPHA:93311
HP:0003468	Abnormal vertebral morphology	10220	GDF11	OMIM:619122
HP:0003468	Abnormal vertebral morphology	50814	NSDHL	OMIM:308050
HP:0003468	Abnormal vertebral morphology	10682	EBP	OMIM:302960
HP:0003468	Abnormal vertebral morphology	415	ARSL	ORPHA:79345
HP:0003468	Abnormal vertebral morphology	3313	HSPA9	OMIM:616854
HP:0003468	Abnormal vertebral morphology	6660	SOX5	OMIM:616803
HP:0003468	Abnormal vertebral morphology	10735	STAG2	OMIM:301043
HP:0003468	Abnormal vertebral morphology	6662	SOX9	OMIM:114290
HP:0003468	Abnormal vertebral morphology	347734	SLC35B2	OMIM:620269
HP:0003468	Abnormal vertebral morphology	23126	POGZ	OMIM:616364
HP:0003468	Abnormal vertebral morphology	6223	RPS19	OMIM:105650
HP:0003468	Abnormal vertebral morphology	29123	ANKRD11	OMIM:148050
HP:0003468	Abnormal vertebral morphology	10606	PAICS	OMIM:619859
HP:0003468	Abnormal vertebral morphology	1984	EIF5A	OMIM:619376
HP:0003468	Abnormal vertebral morphology	5251	PHEX	ORPHA:89936
HP:0003468	Abnormal vertebral morphology	10484	SEC23A	OMIM:607812
HP:0003468	Abnormal vertebral morphology	10484	SEC23A	ORPHA:50814
HP:0003468	Abnormal vertebral morphology	1182	CLCN3	OMIM:619512
HP:0003468	Abnormal vertebral morphology	10236	HNRNPR	OMIM:620073
HP:0003468	Abnormal vertebral morphology	3021	H3-3B	OMIM:619721
HP:0003468	Abnormal vertebral morphology	6872	TAF1	ORPHA:480907
HP:0003468	Abnormal vertebral morphology	84295	PHF6	OMIM:301900
HP:0003468	Abnormal vertebral morphology	2799	GNS	OMIM:252940
HP:0003468	Abnormal vertebral morphology	11128	POLR3A	ORPHA:3455
HP:0003468	Abnormal vertebral morphology	81839	VANGL1	ORPHA:3027
HP:0003468	Abnormal vertebral morphology	80199	FUZ	ORPHA:3027
HP:0003468	Abnormal vertebral morphology	285362	SUMF1	OMIM:272200
HP:0003468	Abnormal vertebral morphology	5654	HTRA1	ORPHA:199354
HP:0003468	Abnormal vertebral morphology	6347	CCL2	OMIM:182940
HP:0003468	Abnormal vertebral morphology	57216	VANGL2	OMIM:182940
HP:0003468	Abnormal vertebral morphology	6913	TBX15	OMIM:260660
HP:0003468	Abnormal vertebral morphology	1593	CYP27A1	ORPHA:909
HP:0003468	Abnormal vertebral morphology	1009	CDH11	ORPHA:1299
HP:0003468	Abnormal vertebral morphology	3110	MNX1	ORPHA:1552
HP:0003468	Abnormal vertebral morphology	3110	MNX1	OMIM:176450
HP:0003468	Abnormal vertebral morphology	2176	FANCC	OMIM:227645
HP:0003468	Abnormal vertebral morphology	8567	MADD	OMIM:619004
HP:0003468	Abnormal vertebral morphology	1297	COL9A1	OMIM:614135
HP:0003468	Abnormal vertebral morphology	165	AEBP1	OMIM:618000
HP:0003468	Abnormal vertebral morphology	579	NKX3-2	OMIM:613330
HP:0003468	Abnormal vertebral morphology	6399	TRAPPC2	ORPHA:93284
HP:0003468	Abnormal vertebral morphology	23592	LEMD3	ORPHA:166119
HP:0003468	Abnormal vertebral morphology	7473	WNT3	ORPHA:3301
HP:0003468	Abnormal vertebral morphology	340419	RSPO2	ORPHA:3301
HP:0003468	Abnormal vertebral morphology	9496	TBX4	ORPHA:3301
HP:0003468	Abnormal vertebral morphology	3339	HSPG2	ORPHA:800
HP:0003468	Abnormal vertebral morphology	1436	CSF1R	OMIM:618476
HP:0003468	Abnormal vertebral morphology	1277	COL1A1	OMIM:166200
HP:0006501	Aplasia/Hypoplasia of the radius	9935	MAFB	ORPHA:233
HP:0006501	Aplasia/Hypoplasia of the radius	1123	CHN1	ORPHA:233
HP:0006501	Aplasia/Hypoplasia of the radius	5573	PRKAR1A	ORPHA:950
HP:0006501	Aplasia/Hypoplasia of the radius	5144	PDE4D	ORPHA:950
HP:0006501	Aplasia/Hypoplasia of the radius	8200	GDF5	OMIM:200700
HP:0006501	Aplasia/Hypoplasia of the radius	8200	GDF5	OMIM:201250
HP:0006501	Aplasia/Hypoplasia of the radius	4882	NPR2	OMIM:602875
HP:0006501	Aplasia/Hypoplasia of the radius	28981	IFT81	OMIM:617895
HP:0006501	Aplasia/Hypoplasia of the radius	2263	FGFR2	OMIM:149730
HP:0006501	Aplasia/Hypoplasia of the radius	2263	FGFR2	ORPHA:2363
HP:0006501	Aplasia/Hypoplasia of the radius	6154	RPL26	OMIM:614900
HP:0006501	Aplasia/Hypoplasia of the radius	157570	ESCO2	ORPHA:3103
HP:0006501	Aplasia/Hypoplasia of the radius	157570	ESCO2	ORPHA:2319
HP:0006501	Aplasia/Hypoplasia of the radius	6473	SHOX	OMIM:127300
HP:0006501	Aplasia/Hypoplasia of the radius	6473	SHOX	OMIM:249700
HP:0006501	Aplasia/Hypoplasia of the radius	6473	SHOX	ORPHA:240
HP:0006501	Aplasia/Hypoplasia of the radius	1855	DVL1	OMIM:616331
HP:0006501	Aplasia/Hypoplasia of the radius	1723	DHODH	OMIM:263750
HP:0006501	Aplasia/Hypoplasia of the radius	1723	DHODH	ORPHA:246
HP:0006501	Aplasia/Hypoplasia of the radius	92002	CCNQ	ORPHA:140952
HP:0006501	Aplasia/Hypoplasia of the radius	2261	FGFR3	ORPHA:2363
HP:0006501	Aplasia/Hypoplasia of the radius	2255	FGF10	ORPHA:2363
HP:0006501	Aplasia/Hypoplasia of the radius	4038	LRP4	ORPHA:3258
HP:0006501	Aplasia/Hypoplasia of the radius	4038	LRP4	OMIM:212780
HP:0006501	Aplasia/Hypoplasia of the radius	324	APC	ORPHA:3258
HP:0006501	Aplasia/Hypoplasia of the radius	4920	ROR2	OMIM:268310
HP:0006501	Aplasia/Hypoplasia of the radius	9321	TRIP11	OMIM:200600
HP:0006501	Aplasia/Hypoplasia of the radius	7476	WNT7A	OMIM:228930
HP:0006501	Aplasia/Hypoplasia of the radius	7476	WNT7A	ORPHA:2879
HP:0006501	Aplasia/Hypoplasia of the radius	7476	WNT7A	OMIM:276820
HP:0006501	Aplasia/Hypoplasia of the radius	25836	NIPBL	OMIM:122470
HP:0006501	Aplasia/Hypoplasia of the radius	9939	RBM8A	OMIM:274000
HP:0006501	Aplasia/Hypoplasia of the radius	6223	RPS19	OMIM:105650
HP:0006501	Aplasia/Hypoplasia of the radius	79087	ALG12	OMIM:607143
HP:0006501	Aplasia/Hypoplasia of the radius	6926	TBX3	OMIM:181450
HP:0006501	Aplasia/Hypoplasia of the radius	3549	IHH	OMIM:607778
HP:0006501	Aplasia/Hypoplasia of the radius	9775	EIF4A3	OMIM:268305
HP:0006501	Aplasia/Hypoplasia of the radius	29980	DONSON	OMIM:617604
HP:0006501	Aplasia/Hypoplasia of the radius	8241	RBM10	OMIM:311900
HP:0006501	Aplasia/Hypoplasia of the radius	2317	FLNB	ORPHA:56305
HP:0006501	Aplasia/Hypoplasia of the radius	2317	FLNB	OMIM:112310
HP:0006501	Aplasia/Hypoplasia of the radius	7547	ZIC3	OMIM:314390
HP:0006501	Aplasia/Hypoplasia of the radius	54101	RIPK4	OMIM:263650
HP:0006501	Aplasia/Hypoplasia of the radius	55636	CHD7	OMIM:214800
HP:0006501	Aplasia/Hypoplasia of the radius	2737	GLI3	ORPHA:93322
HP:0006501	Aplasia/Hypoplasia of the radius	545	ATR	OMIM:210600
HP:0006501	Aplasia/Hypoplasia of the radius	27125	AFF4	ORPHA:444077
HP:0006501	Aplasia/Hypoplasia of the radius	5980	REV3L	ORPHA:570
HP:0006501	Aplasia/Hypoplasia of the radius	23129	PLXND1	ORPHA:570
HP:0006501	Aplasia/Hypoplasia of the radius	4318	MMP9	ORPHA:1040
HP:0006501	Aplasia/Hypoplasia of the radius	4322	MMP13	ORPHA:1040
HP:0006501	Aplasia/Hypoplasia of the radius	6910	TBX5	ORPHA:392
HP:0006501	Aplasia/Hypoplasia of the radius	9401	RECQL4	ORPHA:1225
HP:0006501	Aplasia/Hypoplasia of the radius	9401	RECQL4	OMIM:266280
HP:0006501	Aplasia/Hypoplasia of the radius	7140	TNNT3	ORPHA:1147
HP:0006501	Aplasia/Hypoplasia of the radius	4621	MYH3	ORPHA:1147
HP:0006501	Aplasia/Hypoplasia of the radius	7169	TPM2	ORPHA:1147
HP:0006501	Aplasia/Hypoplasia of the radius	259232	NALCN	ORPHA:1147
HP:0006501	Aplasia/Hypoplasia of the radius	7136	TNNI2	ORPHA:1147
HP:0006501	Aplasia/Hypoplasia of the radius	672	BRCA1	ORPHA:84
HP:0006501	Aplasia/Hypoplasia of the radius	10459	MAD2L2	ORPHA:84
HP:0006501	Aplasia/Hypoplasia of the radius	7516	XRCC2	ORPHA:84
HP:0006501	Aplasia/Hypoplasia of the radius	29089	UBE2T	ORPHA:84
HP:0006501	Aplasia/Hypoplasia of the radius	675	BRCA2	ORPHA:84
HP:0006501	Aplasia/Hypoplasia of the radius	55120	FANCL	ORPHA:84
HP:0006501	Aplasia/Hypoplasia of the radius	2177	FANCD2	ORPHA:84
HP:0006501	Aplasia/Hypoplasia of the radius	2175	FANCA	ORPHA:84
HP:0006501	Aplasia/Hypoplasia of the radius	2187	FANCB	ORPHA:84
HP:0006501	Aplasia/Hypoplasia of the radius	2176	FANCC	ORPHA:84
HP:0006501	Aplasia/Hypoplasia of the radius	2178	FANCE	ORPHA:84
HP:0006501	Aplasia/Hypoplasia of the radius	2188	FANCF	ORPHA:84
HP:0006501	Aplasia/Hypoplasia of the radius	2189	FANCG	ORPHA:84
HP:0006501	Aplasia/Hypoplasia of the radius	5888	RAD51	ORPHA:84
HP:0006501	Aplasia/Hypoplasia of the radius	5889	RAD51C	ORPHA:84
HP:0006501	Aplasia/Hypoplasia of the radius	55159	RFWD3	ORPHA:84
HP:0006501	Aplasia/Hypoplasia of the radius	83990	BRIP1	ORPHA:84
HP:0006501	Aplasia/Hypoplasia of the radius	57697	FANCM	ORPHA:84
HP:0006501	Aplasia/Hypoplasia of the radius	79728	PALB2	ORPHA:84
HP:0006501	Aplasia/Hypoplasia of the radius	84464	SLX4	ORPHA:84
HP:0006501	Aplasia/Hypoplasia of the radius	2072	ERCC4	ORPHA:84
HP:0006501	Aplasia/Hypoplasia of the radius	55215	FANCI	ORPHA:84
HP:0006501	Aplasia/Hypoplasia of the radius	7040	TGFB1	ORPHA:1328
HP:0006501	Aplasia/Hypoplasia of the radius	10262	SF3B4	ORPHA:1788
HP:0006501	Aplasia/Hypoplasia of the radius	10262	SF3B4	ORPHA:245
HP:0006501	Aplasia/Hypoplasia of the radius	3239	HOXD13	ORPHA:887
HP:0006501	Aplasia/Hypoplasia of the radius	60681	FKBP10	ORPHA:1149
HP:0006501	Aplasia/Hypoplasia of the radius	2260	FGFR1	ORPHA:2117
HP:0006501	Aplasia/Hypoplasia of the radius	9555	MACROH2A1	ORPHA:1275
HP:0006501	Aplasia/Hypoplasia of the radius	5307	PITX1	ORPHA:1275
HP:0006501	Aplasia/Hypoplasia of the radius	57167	SALL4	ORPHA:959
HP:0006501	Aplasia/Hypoplasia of the radius	1717	DHCR7	ORPHA:818
HP:0006501	Aplasia/Hypoplasia of the radius	64327	LMBR1	ORPHA:93321
HP:0006501	Aplasia/Hypoplasia of the radius	6469	SHH	ORPHA:93321
HP:0006501	Aplasia/Hypoplasia of the radius	7204	TRIO	ORPHA:476126
HP:0005715	Flattened knee epiphyses	1298	COL9A2	OMIM:600204
HP:0002984	Hypoplasia of the radius	57167	SALL4	ORPHA:233
HP:0002984	Hypoplasia of the radius	57167	SALL4	OMIM:147750
HP:0002984	Hypoplasia of the radius	57167	SALL4	OMIM:607323
HP:0002984	Hypoplasia of the radius	57167	SALL4	ORPHA:2307
HP:0002984	Hypoplasia of the radius	9935	MAFB	ORPHA:233
HP:0002984	Hypoplasia of the radius	1123	CHN1	ORPHA:233
HP:0002984	Hypoplasia of the radius	5573	PRKAR1A	ORPHA:950
HP:0002984	Hypoplasia of the radius	5144	PDE4D	ORPHA:950
HP:0002984	Hypoplasia of the radius	8200	GDF5	OMIM:200700
HP:0002984	Hypoplasia of the radius	8200	GDF5	OMIM:201250
HP:0002984	Hypoplasia of the radius	4882	NPR2	OMIM:602875
HP:0002984	Hypoplasia of the radius	10262	SF3B4	OMIM:154400
HP:0002984	Hypoplasia of the radius	10262	SF3B4	ORPHA:245
HP:0002984	Hypoplasia of the radius	28981	IFT81	OMIM:617895
HP:0002984	Hypoplasia of the radius	2263	FGFR2	OMIM:149730
HP:0002984	Hypoplasia of the radius	2263	FGFR2	ORPHA:2363
HP:0002984	Hypoplasia of the radius	6154	RPL26	OMIM:614900
HP:0002984	Hypoplasia of the radius	157570	ESCO2	ORPHA:3103
HP:0002984	Hypoplasia of the radius	157570	ESCO2	ORPHA:2319
HP:0002984	Hypoplasia of the radius	6473	SHOX	OMIM:127300
HP:0002984	Hypoplasia of the radius	6473	SHOX	OMIM:249700
HP:0002984	Hypoplasia of the radius	6473	SHOX	ORPHA:240
HP:0002984	Hypoplasia of the radius	55159	RFWD3	OMIM:617784
HP:0002984	Hypoplasia of the radius	1855	DVL1	OMIM:616331
HP:0002984	Hypoplasia of the radius	1723	DHODH	OMIM:263750
HP:0002984	Hypoplasia of the radius	1723	DHODH	ORPHA:246
HP:0002984	Hypoplasia of the radius	55215	FANCI	OMIM:609053
HP:0002984	Hypoplasia of the radius	92002	CCNQ	ORPHA:140952
HP:0002984	Hypoplasia of the radius	2261	FGFR3	ORPHA:2363
HP:0002984	Hypoplasia of the radius	2255	FGF10	ORPHA:2363
HP:0002984	Hypoplasia of the radius	79728	PALB2	OMIM:610832
HP:0002984	Hypoplasia of the radius	4038	LRP4	ORPHA:3258
HP:0002984	Hypoplasia of the radius	4038	LRP4	OMIM:212780
HP:0002984	Hypoplasia of the radius	324	APC	ORPHA:3258
HP:0002984	Hypoplasia of the radius	2187	FANCB	ORPHA:3412
HP:0002984	Hypoplasia of the radius	2188	FANCF	OMIM:603467
HP:0002984	Hypoplasia of the radius	4920	ROR2	OMIM:268310
HP:0002984	Hypoplasia of the radius	9321	TRIP11	OMIM:200600
HP:0002984	Hypoplasia of the radius	5889	RAD51C	OMIM:613390
HP:0002984	Hypoplasia of the radius	7476	WNT7A	OMIM:228930
HP:0002984	Hypoplasia of the radius	7476	WNT7A	ORPHA:2879
HP:0002984	Hypoplasia of the radius	7476	WNT7A	OMIM:276820
HP:0002984	Hypoplasia of the radius	25836	NIPBL	OMIM:122470
HP:0002984	Hypoplasia of the radius	84464	SLX4	OMIM:613951
HP:0002984	Hypoplasia of the radius	9939	RBM8A	OMIM:274000
HP:0002984	Hypoplasia of the radius	6223	RPS19	OMIM:105650
HP:0002984	Hypoplasia of the radius	79087	ALG12	OMIM:607143
HP:0002984	Hypoplasia of the radius	6910	TBX5	OMIM:142900
HP:0002984	Hypoplasia of the radius	9401	RECQL4	OMIM:218600
HP:0002984	Hypoplasia of the radius	6926	TBX3	OMIM:181450
HP:0002984	Hypoplasia of the radius	3549	IHH	OMIM:607778
HP:0002984	Hypoplasia of the radius	9775	EIF4A3	OMIM:268305
HP:0002984	Hypoplasia of the radius	7516	XRCC2	OMIM:617247
HP:0002984	Hypoplasia of the radius	29980	DONSON	OMIM:617604
HP:0002984	Hypoplasia of the radius	8241	RBM10	OMIM:311900
HP:0002984	Hypoplasia of the radius	545	ATR	OMIM:210600
HP:0002984	Hypoplasia of the radius	27125	AFF4	ORPHA:444077
HP:0007371	Corpus callosum atrophy	10059	DNM1L	ORPHA:98673
HP:0007371	Corpus callosum atrophy	4976	OPA1	ORPHA:98673
HP:0007371	Corpus callosum atrophy	4702	NDUFA8	OMIM:619272
HP:0007371	Corpus callosum atrophy	1436	CSF1R	OMIM:221820
HP:0007371	Corpus callosum atrophy	4099	MAG	OMIM:616680
HP:0007371	Corpus callosum atrophy	84340	GFM2	ORPHA:565624
HP:0007371	Corpus callosum atrophy	10134	BCAP31	ORPHA:369939
HP:0007371	Corpus callosum atrophy	5832	ALDH18A1	OMIM:616586
HP:0007371	Corpus callosum atrophy	5832	ALDH18A1	ORPHA:447753
HP:0007371	Corpus callosum atrophy	5832	ALDH18A1	OMIM:601162
HP:0007371	Corpus callosum atrophy	5832	ALDH18A1	ORPHA:447760
HP:0007371	Corpus callosum atrophy	4125	MAN2B1	OMIM:248500
HP:0007371	Corpus callosum atrophy	777	CACNA1E	OMIM:618285
HP:0007371	Corpus callosum atrophy	64207	IRF2BPL	OMIM:618088
HP:0007371	Corpus callosum atrophy	84631	SLITRK2	OMIM:301107
HP:0007371	Corpus callosum atrophy	51728	POLR3K	OMIM:619310
HP:0007371	Corpus callosum atrophy	27247	NFU1	OMIM:620938
HP:0007371	Corpus callosum atrophy	10273	STUB1	ORPHA:412057
HP:0007371	Corpus callosum atrophy	9255	AIMP1	OMIM:260600
HP:0007371	Corpus callosum atrophy	51692	CPSF3	OMIM:619876
HP:0007371	Corpus callosum atrophy	3295	HSD17B4	OMIM:261515
HP:0007371	Corpus callosum atrophy	4191	MDH2	OMIM:617339
HP:0007371	Corpus callosum atrophy	4001	LMNB1	OMIM:169500
HP:0007371	Corpus callosum atrophy	27072	VPS41	OMIM:619389
HP:0007371	Corpus callosum atrophy	91875	TTC5	OMIM:619244
HP:0007371	Corpus callosum atrophy	23065	EMC1	OMIM:616875
HP:0007371	Corpus callosum atrophy	23065	EMC1	ORPHA:480898
HP:0007371	Corpus callosum atrophy	79152	FA2H	ORPHA:171629
HP:0007371	Corpus callosum atrophy	51761	ATP8A2	OMIM:615268
HP:0007371	Corpus callosum atrophy	9409	PEX16	OMIM:614877
HP:0007371	Corpus callosum atrophy	57704	GBA2	ORPHA:320391
HP:0007371	Corpus callosum atrophy	8890	EIF2B4	OMIM:620314
HP:0007371	Corpus callosum atrophy	79944	L2HGDH	OMIM:236792
HP:0007371	Corpus callosum atrophy	90952	ESAM	OMIM:620371
HP:0008970	Scapulohumeral muscular dystrophy	2483	FRG1	OMIM:158900
HP:0008970	Scapulohumeral muscular dystrophy	23347	SMCHD1	OMIM:158901
HP:0003325	Limb-girdle muscle weakness	29925	GMPPB	ORPHA:370968
HP:0003325	Limb-girdle muscle weakness	29925	GMPPB	OMIM:615352
HP:0003325	Limb-girdle muscle weakness	29925	GMPPB	ORPHA:353327
HP:0003325	Limb-girdle muscle weakness	79147	FKRP	ORPHA:370968
HP:0003325	Limb-girdle muscle weakness	29954	POMT2	ORPHA:370968
HP:0003325	Limb-girdle muscle weakness	9215	LARGE1	ORPHA:370968
HP:0003325	Limb-girdle muscle weakness	10585	POMT1	ORPHA:370968
HP:0003325	Limb-girdle muscle weakness	10585	POMT1	OMIM:609308
HP:0003325	Limb-girdle muscle weakness	10585	POMT1	ORPHA:86812
HP:0003325	Limb-girdle muscle weakness	1410	CRYAB	OMIM:608810
HP:0003325	Limb-girdle muscle weakness	1410	CRYAB	ORPHA:399058
HP:0003325	Limb-girdle muscle weakness	8106	PABPN1	ORPHA:270
HP:0003325	Limb-girdle muscle weakness	1716	DGUOK	ORPHA:329314
HP:0003325	Limb-girdle muscle weakness	4625	MYH7	OMIM:255160
HP:0003325	Limb-girdle muscle weakness	85365	ALG2	OMIM:616228
HP:0003325	Limb-girdle muscle weakness	85365	ALG2	ORPHA:353327
HP:0003325	Limb-girdle muscle weakness	5257	PHKB	ORPHA:79240
HP:0003325	Limb-girdle muscle weakness	7138	TNNT1	OMIM:620386
HP:0003325	Limb-girdle muscle weakness	22947	DUX4L1	ORPHA:269
HP:0003325	Limb-girdle muscle weakness	1789	DNMT3B	ORPHA:269
HP:0003325	Limb-girdle muscle weakness	2483	FRG1	ORPHA:269
HP:0003325	Limb-girdle muscle weakness	23347	SMCHD1	ORPHA:269
HP:0003325	Limb-girdle muscle weakness	100288687	DUX4	ORPHA:269
HP:0003325	Limb-girdle muscle weakness	1605	DAG1	OMIM:613818
HP:0003325	Limb-girdle muscle weakness	6442	SGCA	OMIM:608099
HP:0003325	Limb-girdle muscle weakness	4000	LMNA	OMIM:181350
HP:0003325	Limb-girdle muscle weakness	5339	PLEC	ORPHA:254361
HP:0003325	Limb-girdle muscle weakness	112812	FDX2	OMIM:251900
HP:0003325	Limb-girdle muscle weakness	84197	POMK	OMIM:616094
HP:0003325	Limb-girdle muscle weakness	58	ACTA1	ORPHA:171436
HP:0003325	Limb-girdle muscle weakness	7169	TPM2	ORPHA:171436
HP:0003325	Limb-girdle muscle weakness	4703	NEB	ORPHA:171436
HP:0003325	Limb-girdle muscle weakness	10324	KLHL41	ORPHA:171436
HP:0003325	Limb-girdle muscle weakness	56203	LMOD3	ORPHA:171436
HP:0003325	Limb-girdle muscle weakness	1073	CFL2	ORPHA:171436
HP:0003325	Limb-girdle muscle weakness	4507	MTAP	OMIM:112250
HP:0003325	Limb-girdle muscle weakness	1291	COL6A1	OMIM:158810
HP:0003325	Limb-girdle muscle weakness	1291	COL6A1	ORPHA:610
HP:0003325	Limb-girdle muscle weakness	2992	GYG1	OMIM:616199
HP:0003325	Limb-girdle muscle weakness	8291	DYSF	ORPHA:178400
HP:0003325	Limb-girdle muscle weakness	22880	MORC2	ORPHA:466768
HP:0003325	Limb-girdle muscle weakness	60482	SLC5A7	ORPHA:98914
HP:0003325	Limb-girdle muscle weakness	4649	MYO9A	ORPHA:98914
HP:0003325	Limb-girdle muscle weakness	1305	COL13A1	ORPHA:98914
HP:0003325	Limb-girdle muscle weakness	1103	CHAT	ORPHA:98914
HP:0003325	Limb-girdle muscle weakness	6576	SLC25A1	ORPHA:98914
HP:0003325	Limb-girdle muscle weakness	6843	VAMP1	ORPHA:98914
HP:0003325	Limb-girdle muscle weakness	375790	AGRN	ORPHA:98914
HP:0003325	Limb-girdle muscle weakness	127833	SYT2	ORPHA:98914
HP:0003325	Limb-girdle muscle weakness	6572	SLC18A3	ORPHA:98914
HP:0003325	Limb-girdle muscle weakness	6616	SNAP25	ORPHA:98914
HP:0003325	Limb-girdle muscle weakness	1763	DNA2	ORPHA:352470
HP:0003325	Limb-girdle muscle weakness	11149	POPDC1	OMIM:616812
HP:0003325	Limb-girdle muscle weakness	6443	SGCB	OMIM:604286
HP:0003325	Limb-girdle muscle weakness	11155	LDB3	ORPHA:98912
HP:0003325	Limb-girdle muscle weakness	729920	CRPPA	ORPHA:352479
HP:0003325	Limb-girdle muscle weakness	1303	COL12A1	ORPHA:610
HP:0003325	Limb-girdle muscle weakness	1292	COL6A2	ORPHA:610
HP:0003325	Limb-girdle muscle weakness	1293	COL6A3	ORPHA:610
HP:0003325	Limb-girdle muscle weakness	4976	OPA1	ORPHA:1215
HP:0003325	Limb-girdle muscle weakness	2673	GFPT1	ORPHA:353327
HP:0003325	Limb-girdle muscle weakness	1798	DPAGT1	ORPHA:353327
HP:0003325	Limb-girdle muscle weakness	199857	ALG14	ORPHA:353327
HP:0003325	Limb-girdle muscle weakness	291	SLC25A4	ORPHA:254892
HP:0003325	Limb-girdle muscle weakness	5428	POLG	ORPHA:254892
HP:0003325	Limb-girdle muscle weakness	56652	TWNK	ORPHA:254892
HP:0003325	Limb-girdle muscle weakness	11232	POLG2	ORPHA:254892
HP:0003325	Limb-girdle muscle weakness	50484	RRM2B	ORPHA:254892
HP:0003325	Limb-girdle muscle weakness	23299	BICD2	ORPHA:363454
HP:0003325	Limb-girdle muscle weakness	7273	TTN	OMIM:603689
HP:0003325	Limb-girdle muscle weakness	729359	PLIN4	OMIM:601846
HP:0003325	Limb-girdle muscle weakness	55791	LRIF1	OMIM:619477
HP:0003325	Limb-girdle muscle weakness	51099	ABHD5	ORPHA:98907
HP:0003325	Limb-girdle muscle weakness	4593	MUSK	OMIM:616325
HP:0003325	Limb-girdle muscle weakness	4593	MUSK	ORPHA:98913
HP:0003325	Limb-girdle muscle weakness	22954	TRIM32	OMIM:254110
HP:0003325	Limb-girdle muscle weakness	9782	MATR3	OMIM:606070
HP:0003325	Limb-girdle muscle weakness	9782	MATR3	ORPHA:600
HP:0003325	Limb-girdle muscle weakness	57104	PNPLA2	ORPHA:98908
HP:0003325	Limb-girdle muscle weakness	6261	RYR1	ORPHA:98905
HP:0003325	Limb-girdle muscle weakness	7415	VCP	OMIM:167320
HP:0003325	Limb-girdle muscle weakness	2581	GALC	ORPHA:206436
HP:0003325	Limb-girdle muscle weakness	5660	PSAP	ORPHA:206436
HP:0003325	Limb-girdle muscle weakness	4556	MT-TE	ORPHA:2596
HP:0003325	Limb-girdle muscle weakness	6606	SMN1	OMIM:253400
HP:0003325	Limb-girdle muscle weakness	6607	SMN2	OMIM:253400
HP:0003325	Limb-girdle muscle weakness	10020	GNE	ORPHA:602
HP:0003325	Limb-girdle muscle weakness	10049	DNAJB6	OMIM:603511
HP:0003325	Limb-girdle muscle weakness	9499	MYOT	ORPHA:266
HP:0003325	Limb-girdle muscle weakness	57190	SELENON	ORPHA:2020
HP:0003325	Limb-girdle muscle weakness	4633	MYL2	ORPHA:2020
HP:0003325	Limb-girdle muscle weakness	3679	ITGA7	ORPHA:2020
HP:0003325	Limb-girdle muscle weakness	9200	HACD1	ORPHA:2020
HP:0003325	Limb-girdle muscle weakness	7170	TPM3	ORPHA:2020
HP:0003325	Limb-girdle muscle weakness	51776	MAP3K20	ORPHA:2020
HP:0003325	Limb-girdle muscle weakness	54332	GDAP1	ORPHA:99948
HP:0003325	Limb-girdle muscle weakness	23534	TNPO3	OMIM:608423
HP:0003325	Limb-girdle muscle weakness	203859	ANO5	OMIM:611307
HP:0003325	Limb-girdle muscle weakness	9987	HNRNPDL	OMIM:609115
HP:0003325	Limb-girdle muscle weakness	6329	SCN4A	ORPHA:98913
HP:0003325	Limb-girdle muscle weakness	1134	CHRNA1	ORPHA:98913
HP:0003325	Limb-girdle muscle weakness	4038	LRP4	ORPHA:98913
HP:0003325	Limb-girdle muscle weakness	1140	CHRNB1	ORPHA:98913
HP:0003325	Limb-girdle muscle weakness	1144	CHRND	ORPHA:98913
HP:0003325	Limb-girdle muscle weakness	1145	CHRNE	ORPHA:98913
HP:0003325	Limb-girdle muscle weakness	5913	RAPSN	ORPHA:98913
HP:0003325	Limb-girdle muscle weakness	221264	AK9	ORPHA:98913
HP:0003325	Limb-girdle muscle weakness	285489	DOK7	ORPHA:98913
HP:0003325	Limb-girdle muscle weakness	5255	PHKA1	OMIM:300559
HP:0003325	Limb-girdle muscle weakness	54344	DPM3	ORPHA:263494
HP:0003325	Limb-girdle muscle weakness	2318	FLNC	ORPHA:63273
HP:0008972	Decreased activity of mitochondrial respiratory chain	200205	IBA57	ORPHA:468661
HP:0008972	Decreased activity of mitochondrial respiratory chain	200205	IBA57	OMIM:615330
HP:0008972	Decreased activity of mitochondrial respiratory chain	112812	FDX2	OMIM:251900
HP:0008972	Decreased activity of mitochondrial respiratory chain	26235	FBXL4	OMIM:615471
HP:0008972	Decreased activity of mitochondrial respiratory chain	6390	SDHB	OMIM:619224
HP:0008972	Decreased activity of mitochondrial respiratory chain	51102	MECR	ORPHA:508093
HP:0008972	Decreased activity of mitochondrial respiratory chain	51117	COQ4	OMIM:616276
HP:0008972	Decreased activity of mitochondrial respiratory chain	9054	NFS1	OMIM:619386
HP:0008972	Decreased activity of mitochondrial respiratory chain	6392	SDHD	OMIM:619167
HP:0008972	Decreased activity of mitochondrial respiratory chain	125170	MIEF2	OMIM:619024
HP:0008972	Decreased activity of mitochondrial respiratory chain	54931	TRMT10C	OMIM:616974
HP:0008972	Decreased activity of mitochondrial respiratory chain	6389	SDHA	OMIM:613642
HP:0008972	Decreased activity of mitochondrial respiratory chain	6389	SDHA	OMIM:252011
HP:0008972	Decreased activity of mitochondrial respiratory chain	400916	CHCHD10	OMIM:616209
HP:0008972	Decreased activity of mitochondrial respiratory chain	84300	UQCC2	OMIM:615824
HP:0008972	Decreased activity of mitochondrial respiratory chain	64116	SLC39A8	ORPHA:468699
HP:0008972	Decreased activity of mitochondrial respiratory chain	23479	ISCU	OMIM:255125
HP:0008972	Decreased activity of mitochondrial respiratory chain	10128	LRPPRC	OMIM:220111
HP:0008972	Decreased activity of mitochondrial respiratory chain	10128	LRPPRC	ORPHA:70472
HP:0008972	Decreased activity of mitochondrial respiratory chain	9997	SCO2	OMIM:604377
HP:0008972	Decreased activity of mitochondrial respiratory chain	51241	COX16	OMIM:619355
HP:0008972	Decreased activity of mitochondrial respiratory chain	498	ATP5F1A	OMIM:616045
HP:0008972	Decreased activity of mitochondrial respiratory chain	80308	FLAD1	OMIM:255100
HP:0008972	Decreased activity of mitochondrial respiratory chain	85476	GFM1	OMIM:609060
HP:0008972	Decreased activity of mitochondrial respiratory chain	123263	MTFMT	OMIM:614947
HP:0008972	Decreased activity of mitochondrial respiratory chain	10102	TSFM	OMIM:610505
HP:0008972	Decreased activity of mitochondrial respiratory chain	57176	VARS2	OMIM:615917
HP:0008972	Decreased activity of mitochondrial respiratory chain	56945	MRPS22	OMIM:611719
HP:0008972	Decreased activity of mitochondrial respiratory chain	92667	MGME1	OMIM:615084
HP:0008972	Decreased activity of mitochondrial respiratory chain	6182	MRPL12	OMIM:618951
HP:0008972	Decreased activity of mitochondrial respiratory chain	79587	CARS2	ORPHA:477774
HP:0008972	Decreased activity of mitochondrial respiratory chain	79587	CARS2	OMIM:616672
HP:0008972	Decreased activity of mitochondrial respiratory chain	291	SLC25A4	OMIM:617184
HP:0008972	Decreased activity of mitochondrial respiratory chain	291	SLC25A4	OMIM:615418
HP:0008972	Decreased activity of mitochondrial respiratory chain	84340	GFM2	OMIM:618397
HP:0008972	Decreased activity of mitochondrial respiratory chain	55278	QRSL1	OMIM:618835
HP:0008972	Decreased activity of mitochondrial respiratory chain	5428	POLG	OMIM:613662
HP:0008972	Decreased activity of mitochondrial respiratory chain	4976	OPA1	OMIM:616896
HP:0008972	Decreased activity of mitochondrial respiratory chain	57570	TRMT5	OMIM:616539
HP:0008972	Decreased activity of mitochondrial respiratory chain	51649	MRPS23	OMIM:618952
HP:0008972	Decreased activity of mitochondrial respiratory chain	57038	RARS2	OMIM:611523
HP:0008972	Decreased activity of mitochondrial respiratory chain	283459	GATC	OMIM:618839
HP:0008972	Decreased activity of mitochondrial respiratory chain	28958	COA3	OMIM:619058
HP:0008972	Decreased activity of mitochondrial respiratory chain	54802	TRIT1	OMIM:617873
HP:0008972	Decreased activity of mitochondrial respiratory chain	116228	COX20	OMIM:619054
HP:0008972	Decreased activity of mitochondrial respiratory chain	100131801	PET100	OMIM:619055
HP:0008972	Decreased activity of mitochondrial respiratory chain	63899	NSUN3	OMIM:619012
HP:0008972	Decreased activity of mitochondrial respiratory chain	388753	COA6	OMIM:616501
HP:0008972	Decreased activity of mitochondrial respiratory chain	7084	TK2	OMIM:609560
HP:0008972	Decreased activity of mitochondrial respiratory chain	493753	COA5	OMIM:616500
HP:0008972	Decreased activity of mitochondrial respiratory chain	4358	MPV17	OMIM:256810
HP:0008972	Decreased activity of mitochondrial respiratory chain	29960	MRM2	OMIM:618567
HP:0008972	Decreased activity of mitochondrial respiratory chain	54148	MRPL39	OMIM:620646
HP:0008972	Decreased activity of mitochondrial respiratory chain	708	C1QBP	OMIM:617713
HP:0008972	Decreased activity of mitochondrial respiratory chain	91574	MTRFR	OMIM:613559
HP:0008972	Decreased activity of mitochondrial respiratory chain	124454	EARS2	OMIM:614924
HP:0008972	Decreased activity of mitochondrial respiratory chain	54675	CRLS1	OMIM:620167
HP:0008972	Decreased activity of mitochondrial respiratory chain	55750	AGK	OMIM:212350
HP:0008972	Decreased activity of mitochondrial respiratory chain	1716	DGUOK	OMIM:251880
HP:0008972	Decreased activity of mitochondrial respiratory chain	84334	COA8	OMIM:619061
HP:0008972	Decreased activity of mitochondrial respiratory chain	1339	COX6A2	OMIM:619062
HP:0008972	Decreased activity of mitochondrial respiratory chain	8802	SUCLG1	OMIM:245400
HP:0008972	Decreased activity of mitochondrial respiratory chain	8802	SUCLG1	ORPHA:17
HP:0008972	Decreased activity of mitochondrial respiratory chain	100303755	PET117	OMIM:619063
HP:0008972	Decreased activity of mitochondrial respiratory chain	80324	PUS1	OMIM:600462
HP:0008972	Decreased activity of mitochondrial respiratory chain	9377	COX5A	OMIM:619064
HP:0008972	Decreased activity of mitochondrial respiratory chain	1327	COX4I1	OMIM:619060
HP:0008972	Decreased activity of mitochondrial respiratory chain	64432	MRPS25	OMIM:619025
HP:0008972	Decreased activity of mitochondrial respiratory chain	57505	AARS2	OMIM:614096
HP:0008972	Decreased activity of mitochondrial respiratory chain	29928	TIMM22	OMIM:618851
HP:0008972	Decreased activity of mitochondrial respiratory chain	63931	MRPS14	OMIM:618378
HP:0008972	Decreased activity of mitochondrial respiratory chain	4697	NDUFA4	OMIM:619065
HP:0008972	Decreased activity of mitochondrial respiratory chain	115286	SLC25A26	OMIM:616794
HP:0008972	Decreased activity of mitochondrial respiratory chain	51067	YARS2	OMIM:613561
HP:0008972	Decreased activity of mitochondrial respiratory chain	50484	RRM2B	OMIM:612075
HP:0008972	Decreased activity of mitochondrial respiratory chain	84705	GTPBP3	OMIM:616198
HP:0008972	Decreased activity of mitochondrial respiratory chain	84705	GTPBP3	ORPHA:444013
HP:0008972	Decreased activity of mitochondrial respiratory chain	9131	AIFM1	OMIM:300816
HP:0008972	Decreased activity of mitochondrial respiratory chain	132001	TAMM41	OMIM:620139
HP:0008972	Decreased activity of mitochondrial respiratory chain	51021	MRPS16	OMIM:610498
HP:0008972	Decreased activity of mitochondrial respiratory chain	79731	NARS2	OMIM:616239
HP:0008972	Decreased activity of mitochondrial respiratory chain	79736	TEFM	OMIM:620451
HP:0008972	Decreased activity of mitochondrial respiratory chain	388962	BOLA3	OMIM:614299
HP:0008972	Decreased activity of mitochondrial respiratory chain	27247	NFU1	OMIM:605711
HP:0008972	Decreased activity of mitochondrial respiratory chain	3735	KARS1	OMIM:619147
HP:0008972	Decreased activity of mitochondrial respiratory chain	8803	SUCLA2	OMIM:612073
HP:0008972	Decreased activity of mitochondrial respiratory chain	2671	GFER	OMIM:613076
HP:0008972	Decreased activity of mitochondrial respiratory chain	4702	NDUFA8	OMIM:619272
HP:0008972	Decreased activity of mitochondrial respiratory chain	54539	NDUFB11	ORPHA:2609
HP:0008972	Decreased activity of mitochondrial respiratory chain	54539	NDUFB11	OMIM:301021
HP:0008972	Decreased activity of mitochondrial respiratory chain	25915	NDUFAF3	ORPHA:2609
HP:0008972	Decreased activity of mitochondrial respiratory chain	25915	NDUFAF3	OMIM:618240
HP:0008972	Decreased activity of mitochondrial respiratory chain	51103	NDUFAF1	ORPHA:2609
HP:0008972	Decreased activity of mitochondrial respiratory chain	51103	NDUFAF1	OMIM:618234
HP:0008972	Decreased activity of mitochondrial respiratory chain	91942	NDUFAF2	ORPHA:2609
HP:0008972	Decreased activity of mitochondrial respiratory chain	91942	NDUFAF2	OMIM:618233
HP:0008972	Decreased activity of mitochondrial respiratory chain	51300	TIMMDC1	ORPHA:2609
HP:0008972	Decreased activity of mitochondrial respiratory chain	51300	TIMMDC1	OMIM:618251
HP:0008972	Decreased activity of mitochondrial respiratory chain	4716	NDUFB10	ORPHA:2609
HP:0008972	Decreased activity of mitochondrial respiratory chain	4716	NDUFB10	OMIM:619003
HP:0008972	Decreased activity of mitochondrial respiratory chain	4723	NDUFV1	ORPHA:2609
HP:0008972	Decreased activity of mitochondrial respiratory chain	4723	NDUFV1	OMIM:618225
HP:0008972	Decreased activity of mitochondrial respiratory chain	55572	FOXRED1	ORPHA:2609
HP:0008972	Decreased activity of mitochondrial respiratory chain	55572	FOXRED1	OMIM:618241
HP:0008972	Decreased activity of mitochondrial respiratory chain	284184	NDUFAF8	ORPHA:2609
HP:0008972	Decreased activity of mitochondrial respiratory chain	284184	NDUFAF8	OMIM:618776
HP:0008972	Decreased activity of mitochondrial respiratory chain	55863	TMEM126B	ORPHA:2609
HP:0008972	Decreased activity of mitochondrial respiratory chain	55863	TMEM126B	OMIM:618250
HP:0008972	Decreased activity of mitochondrial respiratory chain	4535	MT-ND1	ORPHA:2609
HP:0008972	Decreased activity of mitochondrial respiratory chain	4537	MT-ND3	ORPHA:2609
HP:0008972	Decreased activity of mitochondrial respiratory chain	4729	NDUFV2	ORPHA:2609
HP:0008972	Decreased activity of mitochondrial respiratory chain	4729	NDUFV2	OMIM:618229
HP:0008972	Decreased activity of mitochondrial respiratory chain	4694	NDUFA1	ORPHA:2609
HP:0008972	Decreased activity of mitochondrial respiratory chain	4694	NDUFA1	OMIM:301020
HP:0008972	Decreased activity of mitochondrial respiratory chain	4720	NDUFS2	ORPHA:2609
HP:0008972	Decreased activity of mitochondrial respiratory chain	4720	NDUFS2	OMIM:618228
HP:0008972	Decreased activity of mitochondrial respiratory chain	4724	NDUFS4	ORPHA:2609
HP:0008972	Decreased activity of mitochondrial respiratory chain	4724	NDUFS4	OMIM:252010
HP:0008972	Decreased activity of mitochondrial respiratory chain	4726	NDUFS6	ORPHA:2609
HP:0008972	Decreased activity of mitochondrial respiratory chain	4726	NDUFS6	OMIM:618232
HP:0008972	Decreased activity of mitochondrial respiratory chain	4728	NDUFS8	ORPHA:2609
HP:0008972	Decreased activity of mitochondrial respiratory chain	4728	NDUFS8	OMIM:618222
HP:0008972	Decreased activity of mitochondrial respiratory chain	4722	NDUFS3	ORPHA:2609
HP:0008972	Decreased activity of mitochondrial respiratory chain	4722	NDUFS3	OMIM:618230
HP:0008972	Decreased activity of mitochondrial respiratory chain	79133	NDUFAF5	ORPHA:2609
HP:0008972	Decreased activity of mitochondrial respiratory chain	79133	NDUFAF5	OMIM:618238
HP:0008972	Decreased activity of mitochondrial respiratory chain	126328	NDUFA11	ORPHA:2609
HP:0008972	Decreased activity of mitochondrial respiratory chain	126328	NDUFA11	OMIM:618236
HP:0008972	Decreased activity of mitochondrial respiratory chain	4709	NDUFB3	ORPHA:2609
HP:0008972	Decreased activity of mitochondrial respiratory chain	4709	NDUFB3	OMIM:618246
HP:0008972	Decreased activity of mitochondrial respiratory chain	80224	NUBPL	ORPHA:2609
HP:0008972	Decreased activity of mitochondrial respiratory chain	80224	NUBPL	OMIM:618242
HP:0008972	Decreased activity of mitochondrial respiratory chain	29078	NDUFAF4	ORPHA:2609
HP:0008972	Decreased activity of mitochondrial respiratory chain	29078	NDUFAF4	OMIM:618237
HP:0008972	Decreased activity of mitochondrial respiratory chain	374291	NDUFS7	ORPHA:2609
HP:0008972	Decreased activity of mitochondrial respiratory chain	4700	NDUFA6	ORPHA:2609
HP:0008972	Decreased activity of mitochondrial respiratory chain	4700	NDUFA6	OMIM:618253
HP:0008972	Decreased activity of mitochondrial respiratory chain	4536	MT-ND2	ORPHA:2609
HP:0008972	Decreased activity of mitochondrial respiratory chain	4719	NDUFS1	ORPHA:2609
HP:0008972	Decreased activity of mitochondrial respiratory chain	4719	NDUFS1	OMIM:618226
HP:0008972	Decreased activity of mitochondrial respiratory chain	4715	NDUFB9	ORPHA:2609
HP:0008972	Decreased activity of mitochondrial respiratory chain	4715	NDUFB9	OMIM:618245
HP:0008972	Decreased activity of mitochondrial respiratory chain	4695	NDUFA2	OMIM:618235
HP:0008972	Decreased activity of mitochondrial respiratory chain	137682	NDUFAF6	OMIM:618239
HP:0008972	Decreased activity of mitochondrial respiratory chain	4718	NDUFC2	OMIM:619170
HP:0008972	Decreased activity of mitochondrial respiratory chain	55967	NDUFA12	OMIM:618244
HP:0008972	Decreased activity of mitochondrial respiratory chain	4704	NDUFA9	OMIM:618247
HP:0008972	Decreased activity of mitochondrial respiratory chain	55037	PTCD3	OMIM:619057
HP:0008972	Decreased activity of mitochondrial respiratory chain	4705	NDUFA10	OMIM:618243
HP:0008972	Decreased activity of mitochondrial respiratory chain	51079	NDUFA13	OMIM:618249
HP:0008972	Decreased activity of mitochondrial respiratory chain	4556	MT-TE	ORPHA:254864
HP:0008972	Decreased activity of mitochondrial respiratory chain	55687	TRMU	ORPHA:254864
HP:0008972	Decreased activity of mitochondrial respiratory chain	4714	NDUFB8	OMIM:618252
HP:0008972	Decreased activity of mitochondrial respiratory chain	28976	ACAD9	ORPHA:99901
HP:0008972	Decreased activity of mitochondrial respiratory chain	28976	ACAD9	OMIM:611126
HP:0008972	Decreased activity of mitochondrial respiratory chain	4567	MT-TL1	ORPHA:324525
HP:0008972	Decreased activity of mitochondrial respiratory chain	122961	ISCA2	OMIM:616370
HP:0008972	Decreased activity of mitochondrial respiratory chain	25828	TXN2	ORPHA:478029
HP:0008972	Decreased activity of mitochondrial respiratory chain	25828	TXN2	OMIM:616811
HP:0008972	Decreased activity of mitochondrial respiratory chain	60528	ELAC2	OMIM:615440
HP:0008972	Decreased activity of mitochondrial respiratory chain	6329	SCN4A	OMIM:620351
HP:0008972	Decreased activity of mitochondrial respiratory chain	119559	SFXN4	OMIM:615578
HP:0008972	Decreased activity of mitochondrial respiratory chain	1468	SLC25A10	OMIM:618972
HP:0008972	Decreased activity of mitochondrial respiratory chain	4713	NDUFB7	OMIM:620135
HP:0008972	Decreased activity of mitochondrial respiratory chain	27089	UQCRQ	OMIM:615159
HP:0008972	Decreased activity of mitochondrial respiratory chain	54902	TTC19	OMIM:615157
HP:0008972	Decreased activity of mitochondrial respiratory chain	7381	UQCRB	OMIM:615158
HP:0008972	Decreased activity of mitochondrial respiratory chain	25821	MTO1	OMIM:614702
HP:0008972	Decreased activity of mitochondrial respiratory chain	90624	LYRM7	OMIM:615838
HP:0008972	Decreased activity of mitochondrial respiratory chain	617	BCS1L	OMIM:124000
HP:0008972	Decreased activity of mitochondrial respiratory chain	1537	CYC1	OMIM:615453
HP:0008972	Decreased activity of mitochondrial respiratory chain	790955	UQCC3	OMIM:616111
HP:0008972	Decreased activity of mitochondrial respiratory chain	7388	UQCRH	OMIM:620137
HP:0008972	Decreased activity of mitochondrial respiratory chain	54968	TMEM70	OMIM:614052
HP:0008972	Decreased activity of mitochondrial respiratory chain	513	ATP5F1D	OMIM:618120
HP:0008972	Decreased activity of mitochondrial respiratory chain	514	ATP5F1E	OMIM:614053
HP:0008972	Decreased activity of mitochondrial respiratory chain	92609	TIMM50	ORPHA:505216
HP:0008972	Decreased activity of mitochondrial respiratory chain	91647	ATPAF2	OMIM:604273
HP:0002194	Delayed gross motor development	11113	CIT	OMIM:617090
HP:0002194	Delayed gross motor development	85465	SELENOI	ORPHA:506353
HP:0002194	Delayed gross motor development	57190	SELENON	ORPHA:324604
HP:0002194	Delayed gross motor development	4625	MYH7	ORPHA:324604
HP:0002194	Delayed gross motor development	7273	TTN	ORPHA:324604
HP:0002194	Delayed gross motor development	23769	FLRT1	ORPHA:320406
HP:0002194	Delayed gross motor development	64837	KLC2	ORPHA:320406
HP:0002194	Delayed gross motor development	388015	RTL1	ORPHA:254534
HP:0002194	Delayed gross motor development	8788	DLK1	ORPHA:254534
HP:0002194	Delayed gross motor development	55384	MEG3	ORPHA:254534
HP:0002194	Delayed gross motor development	5351	PLOD1	OMIM:225400
HP:0002194	Delayed gross motor development	5351	PLOD1	ORPHA:1900
HP:0002194	Delayed gross motor development	57165	GJC2	ORPHA:320401
HP:0002194	Delayed gross motor development	160418	TMTC3	OMIM:617255
HP:0002194	Delayed gross motor development	4860	PNP	OMIM:613179
HP:0002194	Delayed gross motor development	775	CACNA1C	OMIM:620029
HP:0002194	Delayed gross motor development	55605	KIF21A	ORPHA:45358
HP:0002194	Delayed gross motor development	347733	TUBB2B	ORPHA:45358
HP:0002194	Delayed gross motor development	7846	TUBA1A	ORPHA:45358
HP:0002194	Delayed gross motor development	401	PHOX2A	ORPHA:45358
HP:0002194	Delayed gross motor development	10381	TUBB3	ORPHA:45358
HP:0002194	Delayed gross motor development	10381	TUBB3	ORPHA:300570
HP:0002194	Delayed gross motor development	84570	COL25A1	ORPHA:45358
HP:0002194	Delayed gross motor development	10973	ASCC3	OMIM:620700
HP:0002194	Delayed gross motor development	4967	OGDH	OMIM:203740
HP:0002194	Delayed gross motor development	1756	DMD	OMIM:310200
HP:0002194	Delayed gross motor development	4774	NFIA	OMIM:613735
HP:0002194	Delayed gross motor development	1119	CHKA	OMIM:620023
HP:0002194	Delayed gross motor development	7138	TNNT1	OMIM:620386
HP:0002194	Delayed gross motor development	7138	TNNT1	OMIM:605355
HP:0002194	Delayed gross motor development	3708	ITPR1	ORPHA:208513
HP:0002194	Delayed gross motor development	3708	ITPR1	OMIM:117360
HP:0002194	Delayed gross motor development	3708	ITPR1	OMIM:206700
HP:0002194	Delayed gross motor development	274	BIN1	ORPHA:169189
HP:0002194	Delayed gross motor development	64419	MTMR14	ORPHA:169189
HP:0002194	Delayed gross motor development	4618	MYF6	ORPHA:169189
HP:0002194	Delayed gross motor development	1785	DNM2	ORPHA:169189
HP:0002194	Delayed gross motor development	6261	RYR1	ORPHA:169189
HP:0002194	Delayed gross motor development	6261	RYR1	ORPHA:178145
HP:0002194	Delayed gross motor development	81570	CLPB	ORPHA:445038
HP:0002194	Delayed gross motor development	4867	NPHP1	OMIM:609583
HP:0002194	Delayed gross motor development	55209	SETD5	ORPHA:404440
HP:0002194	Delayed gross motor development	5339	PLEC	ORPHA:254361
HP:0002194	Delayed gross motor development	6792	CDKL5	ORPHA:3095
HP:0002194	Delayed gross motor development	6792	CDKL5	ORPHA:505652
HP:0002194	Delayed gross motor development	22854	NTNG1	ORPHA:3095
HP:0002194	Delayed gross motor development	9568	GABBR2	ORPHA:3095
HP:0002194	Delayed gross motor development	4204	MECP2	ORPHA:3095
HP:0002194	Delayed gross motor development	8243	SMC1A	ORPHA:3095
HP:0002194	Delayed gross motor development	116461	TSEN15	OMIM:617026
HP:0002194	Delayed gross motor development	10978	CLP1	ORPHA:411493
HP:0002194	Delayed gross motor development	23030	KDM4B	OMIM:619320
HP:0002194	Delayed gross motor development	387787	LIPT2	OMIM:617668
HP:0002194	Delayed gross motor development	1278	COL1A2	OMIM:617821
HP:0002194	Delayed gross motor development	57156	TMEM63C	OMIM:619966
HP:0002194	Delayed gross motor development	57231	SNX14	ORPHA:397709
HP:0002194	Delayed gross motor development	57231	SNX14	OMIM:616354
HP:0002194	Delayed gross motor development	9126	SMC3	OMIM:610759
HP:0002194	Delayed gross motor development	5251	PHEX	OMIM:307800
HP:0002194	Delayed gross motor development	79147	FKRP	OMIM:606612
HP:0002194	Delayed gross motor development	6609	SMPD1	ORPHA:77293
HP:0002194	Delayed gross motor development	28982	FLVCR1	ORPHA:88628
HP:0002194	Delayed gross motor development	2590	GALNT2	OMIM:618885
HP:0002194	Delayed gross motor development	24140	FTSJ1	OMIM:309549
HP:0002194	Delayed gross motor development	8913	CACNA1G	OMIM:618087
HP:0002194	Delayed gross motor development	63035	BCORL1	OMIM:301029
HP:0002194	Delayed gross motor development	80224	NUBPL	OMIM:618242
HP:0002194	Delayed gross motor development	23345	SYNE1	OMIM:618484
HP:0002194	Delayed gross motor development	9469	CHST3	OMIM:143095
HP:0002194	Delayed gross motor development	113189	CHST14	ORPHA:2953
HP:0002194	Delayed gross motor development	113189	CHST14	OMIM:601776
HP:0002194	Delayed gross motor development	29940	DSE	ORPHA:2953
HP:0002194	Delayed gross motor development	29940	DSE	OMIM:615539
HP:0002194	Delayed gross motor development	1777	DNASE2	OMIM:619858
HP:0002194	Delayed gross motor development	7084	TK2	OMIM:609560
HP:0002194	Delayed gross motor development	815	CAMK2A	OMIM:617798
HP:0002194	Delayed gross motor development	4358	MPV17	OMIM:256810
HP:0002194	Delayed gross motor development	23184	MESD	OMIM:618644
HP:0002194	Delayed gross motor development	5257	PHKB	ORPHA:79240
HP:0002194	Delayed gross motor development	3183	HNRNPC	OMIM:620688
HP:0002194	Delayed gross motor development	9969	MED13	OMIM:618009
HP:0002194	Delayed gross motor development	6678	SPARC	OMIM:616507
HP:0002194	Delayed gross motor development	1000	CDH2	OMIM:618929
HP:0002194	Delayed gross motor development	4982	TNFRSF11B	OMIM:239000
HP:0002194	Delayed gross motor development	6872	TAF1	ORPHA:480907
HP:0002194	Delayed gross motor development	6872	TAF1	OMIM:300966
HP:0002194	Delayed gross motor development	51102	MECR	OMIM:617282
HP:0002194	Delayed gross motor development	80856	LNPK	OMIM:618090
HP:0002194	Delayed gross motor development	1277	COL1A1	OMIM:130060
HP:0002194	Delayed gross motor development	271	AMPD2	ORPHA:401805
HP:0002194	Delayed gross motor development	4556	MT-TE	ORPHA:254864
HP:0002194	Delayed gross motor development	55687	TRMU	ORPHA:254864
HP:0002194	Delayed gross motor development	2744	GLS	OMIM:618412
HP:0002194	Delayed gross motor development	4297	KMT2A	ORPHA:319182
HP:0002194	Delayed gross motor development	9758	FRMPD4	OMIM:300983
HP:0002194	Delayed gross motor development	23327	NEDD4L	OMIM:617201
HP:0002194	Delayed gross motor development	833	CARS1	OMIM:618891
HP:0002194	Delayed gross motor development	4041	LRP5	ORPHA:2788
HP:0002194	Delayed gross motor development	3340	NDST1	OMIM:616116
HP:0002194	Delayed gross motor development	649	BMP1	OMIM:614856
HP:0002194	Delayed gross motor development	1974	EIF4A2	OMIM:620455
HP:0002194	Delayed gross motor development	26834	RNU4-2	OMIM:620851
HP:0002194	Delayed gross motor development	326625	MMAB	OMIM:251110
HP:0002194	Delayed gross motor development	2697	GJA1	OMIM:257850
HP:0002194	Delayed gross motor development	1802	DPH2	OMIM:620062
HP:0002194	Delayed gross motor development	50801	KCNK4	OMIM:618381
HP:0002194	Delayed gross motor development	9997	SCO2	OMIM:604377
HP:0002194	Delayed gross motor development	5518	PPP2R1A	OMIM:616362
HP:0002194	Delayed gross motor development	1186	CLCN7	OMIM:618541
HP:0002194	Delayed gross motor development	1280	COL2A1	OMIM:151210
HP:0002194	Delayed gross motor development	8812	CCNK	OMIM:618147
HP:0002194	Delayed gross motor development	1182	CLCN3	OMIM:619512
HP:0002194	Delayed gross motor development	1182	CLCN3	OMIM:619517
HP:0002194	Delayed gross motor development	9851	KIAA0753	OMIM:619479
HP:0002194	Delayed gross motor development	51095	TRNT1	OMIM:616084
HP:0002194	Delayed gross motor development	7862	BRPF1	OMIM:617333
HP:0002194	Delayed gross motor development	57498	KIDINS220	ORPHA:521390
HP:0002194	Delayed gross motor development	23126	POGZ	OMIM:616364
HP:0002194	Delayed gross motor development	5063	PAK3	OMIM:300558
HP:0002194	Delayed gross motor development	51633	OTUD6B	OMIM:617452
HP:0002194	Delayed gross motor development	2517	FUCA1	OMIM:230000
HP:0002194	Delayed gross motor development	2332	FMR1	ORPHA:908
HP:0002194	Delayed gross motor development	23040	MYT1L	OMIM:616521
HP:0002194	Delayed gross motor development	6531	SLC6A3	OMIM:613135
HP:0002194	Delayed gross motor development	51520	LARS1	OMIM:615438
HP:0002194	Delayed gross motor development	3035	HARS1	OMIM:614504
HP:0002194	Delayed gross motor development	5728	PTEN	ORPHA:109
HP:0002194	Delayed gross motor development	93210	PGAP3	OMIM:615716
HP:0002194	Delayed gross motor development	10283	CWC27	ORPHA:166035
HP:0002194	Delayed gross motor development	2248	FGF3	OMIM:610706
HP:0002194	Delayed gross motor development	11198	SUPT16H	OMIM:619480
HP:0002194	Delayed gross motor development	8720	MBTPS1	OMIM:618392
HP:0002194	Delayed gross motor development	1737	DLAT	OMIM:245348
HP:0002194	Delayed gross motor development	79813	EHMT1	ORPHA:261652
HP:0002194	Delayed gross motor development	58508	KMT2C	ORPHA:261652
HP:0002194	Delayed gross motor development	54828	BCAS3	OMIM:619641
HP:0002194	Delayed gross motor development	3198	HOXA1	OMIM:601536
HP:0002194	Delayed gross motor development	122553	TRAPPC6B	OMIM:617862
HP:0002194	Delayed gross motor development	2232	FDXR	ORPHA:543470
HP:0002194	Delayed gross motor development	23112	TNRC6B	OMIM:619243
HP:0002194	Delayed gross motor development	4849	CNOT3	OMIM:618672
HP:0002194	Delayed gross motor development	22	ABCB7	ORPHA:2802
HP:0002194	Delayed gross motor development	2890	GRIA1	OMIM:619927
HP:0002194	Delayed gross motor development	200424	TET3	OMIM:618798
HP:0002194	Delayed gross motor development	10297	APC2	OMIM:618677
HP:0002194	Delayed gross motor development	79971	WLS	OMIM:619648
HP:0002194	Delayed gross motor development	9562	MINPP1	OMIM:619527
HP:0002194	Delayed gross motor development	9711	RUBCN	ORPHA:404499
HP:0002194	Delayed gross motor development	6329	SCN4A	ORPHA:98913
HP:0002194	Delayed gross motor development	1134	CHRNA1	ORPHA:98913
HP:0002194	Delayed gross motor development	4038	LRP4	ORPHA:98913
HP:0002194	Delayed gross motor development	4038	LRP4	OMIM:212780
HP:0002194	Delayed gross motor development	1305	COL13A1	ORPHA:98913
HP:0002194	Delayed gross motor development	1140	CHRNB1	ORPHA:98913
HP:0002194	Delayed gross motor development	1144	CHRND	ORPHA:98913
HP:0002194	Delayed gross motor development	1145	CHRNE	ORPHA:98913
HP:0002194	Delayed gross motor development	4593	MUSK	ORPHA:98913
HP:0002194	Delayed gross motor development	5913	RAPSN	ORPHA:98913
HP:0002194	Delayed gross motor development	375790	AGRN	ORPHA:98913
HP:0002194	Delayed gross motor development	221264	AK9	ORPHA:98913
HP:0002194	Delayed gross motor development	285489	DOK7	ORPHA:98913
HP:0002194	Delayed gross motor development	22880	MORC2	OMIM:619090
HP:0002194	Delayed gross motor development	4841	NONO	ORPHA:466791
HP:0002194	Delayed gross motor development	10846	PDE10A	ORPHA:494541
HP:0002194	Delayed gross motor development	111	ADCY5	ORPHA:324588
HP:0002194	Delayed gross motor development	3739	KCNA4	OMIM:618284
HP:0002194	Delayed gross motor development	339855	KY	ORPHA:496689
HP:0002194	Delayed gross motor development	10479	SLC9A6	ORPHA:85278
HP:0002194	Delayed gross motor development	476	ATP1A1	ORPHA:564178
HP:0002194	Delayed gross motor development	27086	FOXP1	OMIM:613670
HP:0002194	Delayed gross motor development	26047	CNTNAP2	OMIM:610042
HP:0002194	Delayed gross motor development	8565	YARS1	OMIM:619418
HP:0002194	Delayed gross motor development	131118	DNAJC19	ORPHA:66634
HP:0002194	Delayed gross motor development	9928	KIF14	OMIM:617914
HP:0002194	Delayed gross motor development	5557	PRIM1	OMIM:620005
HP:0002194	Delayed gross motor development	1073	CFL2	OMIM:610687
HP:0002194	Delayed gross motor development	5479	PPIB	OMIM:259440
HP:0002194	Delayed gross motor development	57731	SPTBN4	OMIM:617519
HP:0002194	Delayed gross motor development	147372	CCBE1	OMIM:235510
HP:0002194	Delayed gross motor development	79087	ALG12	ORPHA:79324
HP:0002194	Delayed gross motor development	29954	POMT2	ORPHA:206559
HP:0002194	Delayed gross motor development	9896	FIG4	ORPHA:208441
HP:0002194	Delayed gross motor development	9927	MFN2	OMIM:617087
HP:0002194	Delayed gross motor development	8295	TRRAP	OMIM:618454
HP:0002194	Delayed gross motor development	51362	CDC40	OMIM:619302
HP:0002194	Delayed gross motor development	1496	CTNNA2	OMIM:618174
HP:0002194	Delayed gross motor development	8803	SUCLA2	OMIM:612073
HP:0002194	Delayed gross motor development	8803	SUCLA2	ORPHA:1933
HP:0002194	Delayed gross motor development	7043	TGFB3	OMIM:615582
HP:0002194	Delayed gross motor development	5256	PHKA2	ORPHA:264580
HP:0002194	Delayed gross motor development	5261	PHKG2	ORPHA:264580
HP:0002194	Delayed gross motor development	2033	EP300	OMIM:613684
HP:0002194	Delayed gross motor development	96459	FNIP1	OMIM:619705
HP:0002194	Delayed gross motor development	84148	KAT8	OMIM:618974
HP:0002194	Delayed gross motor development	132001	TAMM41	OMIM:620139
HP:0002194	Delayed gross motor development	7319	UBE2A	ORPHA:163956
HP:0002194	Delayed gross motor development	9373	PLAA	OMIM:617527
HP:0002194	Delayed gross motor development	9230	RAB11B	OMIM:617807
HP:0002194	Delayed gross motor development	92609	TIMM50	ORPHA:505216
HP:0002194	Delayed gross motor development	78987	CRELD1	OMIM:620771
HP:0002194	Delayed gross motor development	8260	NAA10	ORPHA:276432
HP:0002194	Delayed gross motor development	3516	RBPJ	OMIM:614814
HP:0002194	Delayed gross motor development	2902	GRIN1	ORPHA:208447
HP:0002194	Delayed gross motor development	5297	PI4KA	OMIM:619708
HP:0002194	Delayed gross motor development	2582	GALE	OMIM:230350
HP:0002194	Delayed gross motor development	267010	RNU12	ORPHA:512260
HP:0002194	Delayed gross motor development	1303	COL12A1	ORPHA:536516
HP:0002194	Delayed gross motor development	4359	MPZ	OMIM:618184
HP:0002194	Delayed gross motor development	7840	ALMS1	ORPHA:64
HP:0002194	Delayed gross motor development	7809	BSND	ORPHA:89938
HP:0002194	Delayed gross motor development	1188	CLCNKB	ORPHA:89938
HP:0002194	Delayed gross motor development	1187	CLCNKA	ORPHA:89938
HP:0002194	Delayed gross motor development	54344	DPM3	OMIM:618992
HP:0002194	Delayed gross motor development	6390	SDHB	OMIM:619224
HP:0002194	Delayed gross motor development	2548	GAA	ORPHA:308552
HP:0002194	Delayed gross motor development	91875	TTC5	OMIM:619244
HP:0002194	Delayed gross motor development	6326	SCN2A	OMIM:618924
HP:0002194	Delayed gross motor development	55628	ZNF407	OMIM:619557
HP:0002194	Delayed gross motor development	22845	DOLK	ORPHA:91131
HP:0002194	Delayed gross motor development	2137	EXTL3	ORPHA:508533
HP:0002194	Delayed gross motor development	1281	COL3A1	OMIM:618343
HP:0002194	Delayed gross motor development	1499	CTNNB1	OMIM:615075
HP:0002194	Delayed gross motor development	339983	NAT8L	OMIM:614063
HP:0002194	Delayed gross motor development	340533	NEXMIF	OMIM:300912
HP:0002194	Delayed gross motor development	56896	DPYSL5	OMIM:619435
HP:0002194	Delayed gross motor development	51728	POLR3K	OMIM:619310
HP:0002194	Delayed gross motor development	7204	TRIO	OMIM:618825
HP:0002194	Delayed gross motor development	64116	SLC39A8	OMIM:616721
HP:0002194	Delayed gross motor development	2495	FTH1	OMIM:620669
HP:0002194	Delayed gross motor development	2290	FOXG1	OMIM:613454
HP:0002194	Delayed gross motor development	8573	CASK	OMIM:300749
HP:0002194	Delayed gross motor development	8452	CUL3	OMIM:619239
HP:0002194	Delayed gross motor development	7701	ZNF142	OMIM:618425
HP:0002194	Delayed gross motor development	3098	HK1	OMIM:618547
HP:0002194	Delayed gross motor development	4191	MDH2	OMIM:617339
HP:0002194	Delayed gross motor development	56623	INPP5E	OMIM:213300
HP:0002194	Delayed gross motor development	7443	VRK1	OMIM:620542
HP:0002194	Delayed gross motor development	5354	PLP1	ORPHA:280219
HP:0002194	Delayed gross motor development	58	ACTA1	OMIM:620265
HP:0002194	Delayed gross motor development	22859	ADGRL1	OMIM:620065
HP:0002194	Delayed gross motor development	8936	WASF1	OMIM:618707
HP:0002194	Delayed gross motor development	1605	DAG1	ORPHA:370997
HP:0002194	Delayed gross motor development	4983	OPHN1	OMIM:300486
HP:0002194	Delayed gross motor development	80232	WDR26	ORPHA:513456
HP:0002194	Delayed gross motor development	3020	H3-3A	OMIM:619720
HP:0002194	Delayed gross motor development	6651	SON	OMIM:617140
HP:0002194	Delayed gross motor development	10659	CELF2	OMIM:619561
HP:0002194	Delayed gross motor development	7358	UGDH	OMIM:618792
HP:0002194	Delayed gross motor development	2904	GRIN2B	OMIM:616139
HP:0002194	Delayed gross motor development	80055	PGAP1	OMIM:615802
HP:0002194	Delayed gross motor development	3097	HIVEP2	OMIM:616977
HP:0002194	Delayed gross motor development	5010	CLDN11	OMIM:619328
HP:0002194	Delayed gross motor development	28960	DCPS	OMIM:616459
HP:0002194	Delayed gross motor development	25782	RAB3GAP2	OMIM:212720
HP:0002194	Delayed gross motor development	55768	NGLY1	ORPHA:404454
HP:0002194	Delayed gross motor development	64221	ROBO3	OMIM:607313
HP:0002194	Delayed gross motor development	9215	LARGE1	OMIM:608840
HP:0002194	Delayed gross motor development	161725	OTUD7A	OMIM:620790
HP:0002194	Delayed gross motor development	84679	SLC9A7	OMIM:301024
HP:0002194	Delayed gross motor development	5934	RBL2	OMIM:619690
HP:0002194	Delayed gross motor development	23387	SIK3	OMIM:618162
HP:0002194	Delayed gross motor development	55777	MBD5	OMIM:156200
HP:0002194	Delayed gross motor development	4677	NARS1	OMIM:619091
HP:0002194	Delayed gross motor development	4677	NARS1	OMIM:619092
HP:0002194	Delayed gross motor development	57020	VPS35L	OMIM:619135
HP:0002194	Delayed gross motor development	129685	TAF8	OMIM:619972
HP:0002194	Delayed gross motor development	6843	VAMP1	OMIM:618323
HP:0002194	Delayed gross motor development	6571	SLC18A2	OMIM:618049
HP:0002194	Delayed gross motor development	8120	AP3B2	OMIM:617276
HP:0002194	Delayed gross motor development	738	VPS51	OMIM:618606
HP:0002194	Delayed gross motor development	7994	KAT6A	OMIM:616268
HP:0002194	Delayed gross motor development	23499	MACF1	OMIM:618325
HP:0002194	Delayed gross motor development	2770	GNAI1	OMIM:619854
HP:0002194	Delayed gross motor development	5430	POLR2A	OMIM:618603
HP:0002194	Delayed gross motor development	5048	PAFAH1B1	ORPHA:95232
HP:0002194	Delayed gross motor development	1487	CTBP1	OMIM:617915
HP:0002194	Delayed gross motor development	51608	GET4	OMIM:620200
HP:0002194	Delayed gross motor development	2898	GRIK2	OMIM:619580
HP:0002194	Delayed gross motor development	54903	MKS1	OMIM:249000
HP:0002194	Delayed gross motor development	8621	CDK13	OMIM:617360
HP:0002194	Delayed gross motor development	8665	EIF3F	OMIM:618295
HP:0002194	Delayed gross motor development	4761	NEUROD2	OMIM:618374
HP:0002194	Delayed gross motor development	5833	PCYT2	OMIM:618770
HP:0002194	Delayed gross motor development	4208	MEF2C	OMIM:613443
HP:0002194	Delayed gross motor development	6304	SATB1	OMIM:619229
HP:0002194	Delayed gross motor development	81603	TRIM8	OMIM:619428
HP:0002194	Delayed gross motor development	284439	SLC25A42	OMIM:618416
HP:0002194	Delayed gross motor development	6874	TAF4	OMIM:620450
HP:0002194	Delayed gross motor development	27245	AHDC1	OMIM:615829
HP:0002194	Delayed gross motor development	90952	ESAM	OMIM:620371
HP:0002194	Delayed gross motor development	6095	RORA	OMIM:618060
HP:0002194	Delayed gross motor development	7528	YY1	ORPHA:506358
HP:0002194	Delayed gross motor development	8036	SHOC2	OMIM:607721
HP:0002194	Delayed gross motor development	26960	NBEA	OMIM:619157
HP:0002194	Delayed gross motor development	104	ADARB1	OMIM:618862
HP:0002194	Delayed gross motor development	9853	RUSC2	OMIM:617773
HP:0002194	Delayed gross motor development	23241	PACS2	OMIM:618067
HP:0002194	Delayed gross motor development	27247	NFU1	OMIM:620938
HP:0002194	Delayed gross motor development	6659	SOX4	OMIM:618506
HP:0002194	Delayed gross motor development	7109	TRAPPC10	OMIM:620027
HP:0002194	Delayed gross motor development	3190	HNRNPK	ORPHA:453504
HP:0002194	Delayed gross motor development	3190	HNRNPK	ORPHA:352665
HP:0002194	Delayed gross motor development	2617	GARS1	OMIM:619042
HP:0002194	Delayed gross motor development	10743	RAI1	ORPHA:477817
HP:0002194	Delayed gross motor development	80816	ASXL3	OMIM:615485
HP:0002194	Delayed gross motor development	6576	SLC25A1	OMIM:618197
HP:0002194	Delayed gross motor development	4649	MYO9A	OMIM:618198
HP:0002194	Delayed gross motor development	6616	SNAP25	OMIM:616330
HP:0002194	Delayed gross motor development	283489	CHAMP1	OMIM:616579
HP:0002194	Delayed gross motor development	55904	KMT2E	OMIM:618512
HP:0002194	Delayed gross motor development	3145	HMBS	OMIM:620711
HP:0002194	Delayed gross motor development	10501	SEMA6B	OMIM:618876
HP:0002194	Delayed gross motor development	318	NUDT2	OMIM:619844
HP:0002194	Delayed gross motor development	128486	FITM2	OMIM:618635
HP:0002194	Delayed gross motor development	27102	EIF2AK1	OMIM:618878
HP:0002194	Delayed gross motor development	23431	AP4E1	OMIM:613744
HP:0002194	Delayed gross motor development	79158	GNPTAB	OMIM:252500
HP:0002194	Delayed gross motor development	9382	COG1	OMIM:611209
HP:0002194	Delayed gross motor development	2192	FBLN1	ORPHA:404451
HP:0002194	Delayed gross motor development	6595	SMARCA2	OMIM:619293
HP:0002194	Delayed gross motor development	8029	CUBN	ORPHA:35858
HP:0002194	Delayed gross motor development	81693	AMN	ORPHA:35858
HP:0002194	Delayed gross motor development	83696	TRAPPC9	OMIM:613192
HP:0002194	Delayed gross motor development	4001	LMNB1	OMIM:619179
HP:0002194	Delayed gross motor development	23321	TRIM2	OMIM:615490
HP:0002194	Delayed gross motor development	57492	ARID1B	OMIM:135900
HP:0002194	Delayed gross motor development	9698	PUM1	OMIM:620719
HP:0002194	Delayed gross motor development	80204	FBXO11	OMIM:618089
HP:0002194	Delayed gross motor development	535	ATP6V0A1	OMIM:619970
HP:0002194	Delayed gross motor development	5119	CHMP1A	OMIM:614961
HP:0002194	Delayed gross motor development	1292	COL6A2	OMIM:620727
HP:0002194	Delayed gross motor development	7436	VLDLR	OMIM:224050
HP:0002194	Delayed gross motor development	23325	WASHC4	OMIM:615817
HP:0002194	Delayed gross motor development	10716	TBR1	OMIM:606053
HP:0002194	Delayed gross motor development	157680	VPS13B	OMIM:216550
HP:0002194	Delayed gross motor development	26523	AGO1	OMIM:620292
HP:0002194	Delayed gross motor development	9839	ZEB2	ORPHA:261552
HP:0002194	Delayed gross motor development	9839	ZEB2	ORPHA:261537
HP:0002194	Delayed gross motor development	84823	LMNB2	OMIM:619180
HP:0002194	Delayed gross motor development	64919	BCL11B	OMIM:618092
HP:0002194	Delayed gross motor development	55703	POLR3B	OMIM:619742
HP:0002194	Delayed gross motor development	23203	PMPCA	ORPHA:1170
HP:0002194	Delayed gross motor development	23203	PMPCA	OMIM:213200
HP:0002194	Delayed gross motor development	88	ACTN2	OMIM:618654
HP:0002194	Delayed gross motor development	5528	PPP2R5D	OMIM:616355
HP:0002194	Delayed gross motor development	5528	PPP2R5D	ORPHA:457279
HP:0002194	Delayed gross motor development	1293	COL6A3	OMIM:620728
HP:0002194	Delayed gross motor development	54872	PIGG	ORPHA:488635
HP:0002194	Delayed gross motor development	1954	MEGF8	OMIM:614976
HP:0002194	Delayed gross motor development	11160	ERLIN2	OMIM:611225
HP:0002194	Delayed gross motor development	6602	SMARCD1	OMIM:618779
HP:0002194	Delayed gross motor development	1576	CYP3A4	OMIM:619073
HP:0002194	Delayed gross motor development	2615	LRRC32	OMIM:619074
HP:0002194	Delayed gross motor development	4953	ODC1	OMIM:619075
HP:0002194	Delayed gross motor development	10585	POMT1	OMIM:609308
HP:0002194	Delayed gross motor development	113612	CYP2U1	OMIM:615030
HP:0002194	Delayed gross motor development	253738	EBF3	OMIM:617330
HP:0002194	Delayed gross motor development	55621	TRMT1	OMIM:618302
HP:0002194	Delayed gross motor development	10717	AP4B1	OMIM:614066
HP:0002194	Delayed gross motor development	11154	AP4S1	OMIM:614067
HP:0002194	Delayed gross motor development	8558	CDK10	OMIM:617694
HP:0002194	Delayed gross motor development	57863	CADM3	OMIM:619519
HP:0002194	Delayed gross motor development	84720	PIGO	OMIM:614749
HP:0002194	Delayed gross motor development	1650	DDOST	OMIM:614507
HP:0002194	Delayed gross motor development	7337	UBE3A	OMIM:105830
HP:0002194	Delayed gross motor development	7337	UBE3A	ORPHA:411515
HP:0002194	Delayed gross motor development	6638	SNRPN	OMIM:105830
HP:0002194	Delayed gross motor development	6638	SNRPN	ORPHA:411515
HP:0002194	Delayed gross motor development	6558	SLC12A2	OMIM:619083
HP:0002194	Delayed gross motor development	283209	PGM2L1	OMIM:620191
HP:0002194	Delayed gross motor development	2521	FUS	ORPHA:300605
HP:0002194	Delayed gross motor development	80208	SPG11	ORPHA:300605
HP:0002194	Delayed gross motor development	10280	SIGMAR1	ORPHA:300605
HP:0002194	Delayed gross motor development	10558	SPTLC1	ORPHA:300605
HP:0002194	Delayed gross motor development	57679	ALS2	ORPHA:300605
HP:0002194	Delayed gross motor development	9533	POLR1C	OMIM:616494
HP:0002194	Delayed gross motor development	53335	BCL11A	OMIM:617101
HP:0002194	Delayed gross motor development	9474	ATG5	OMIM:617584
HP:0002194	Delayed gross motor development	6942	TCF20	OMIM:618430
HP:0002194	Delayed gross motor development	2542	SLC37A4	OMIM:619525
HP:0002194	Delayed gross motor development	9772	TMEM94	OMIM:618316
HP:0002194	Delayed gross motor development	57466	SCAF4	OMIM:620511
HP:0002194	Delayed gross motor development	57104	PNPLA2	OMIM:610717
HP:0002194	Delayed gross motor development	10430	TMEM147	OMIM:620075
HP:0002194	Delayed gross motor development	11152	WDR45	OMIM:300894
HP:0002194	Delayed gross motor development	23162	MAPK8IP3	OMIM:618443
HP:0002194	Delayed gross motor development	9922	IQSEC1	OMIM:618687
HP:0002194	Delayed gross motor development	55149	MTPAP	OMIM:613672
HP:0002194	Delayed gross motor development	9725	TMEM63A	OMIM:618688
HP:0002194	Delayed gross motor development	1107	CHD3	OMIM:618205
HP:0002194	Delayed gross motor development	6567	SLC16A2	ORPHA:59
HP:0002194	Delayed gross motor development	1387	CREBBP	OMIM:618332
HP:0002194	Delayed gross motor development	10533	ATG7	OMIM:619422
HP:0002194	Delayed gross motor development	5888	RAD51	OMIM:617244
HP:0002194	Delayed gross motor development	22930	RAB3GAP1	OMIM:619420
HP:0002194	Delayed gross motor development	171546	SPTSSA	OMIM:620416
HP:0002194	Delayed gross motor development	171546	SPTSSA	OMIM:620417
HP:0002194	Delayed gross motor development	22907	DHX30	OMIM:617804
HP:0002194	Delayed gross motor development	10664	CTCF	OMIM:615502
HP:0002194	Delayed gross motor development	4000	LMNA	OMIM:613205
HP:0002194	Delayed gross motor development	6857	SYT1	OMIM:618218
HP:0002194	Delayed gross motor development	23534	TNPO3	OMIM:608423
HP:0002194	Delayed gross motor development	8905	AP1S2	OMIM:304340
HP:0002194	Delayed gross motor development	10075	HUWE1	OMIM:309590
HP:0002194	Delayed gross motor development	55906	ZC4H2	OMIM:301041
HP:0002194	Delayed gross motor development	6134	RPL10	OMIM:300998
HP:0002194	Delayed gross motor development	5898	RALA	OMIM:619311
HP:0002194	Delayed gross motor development	79879	CCDC134	OMIM:619795
HP:0002194	Delayed gross motor development	9759	HDAC4	OMIM:619797
HP:0002194	Delayed gross motor development	54892	NCAPG2	OMIM:618460
HP:0002194	Delayed gross motor development	1778	DYNC1H1	OMIM:158600
HP:0002194	Delayed gross motor development	54517	PUS7	OMIM:618342
HP:0002194	Delayed gross motor development	124997	WDR81	OMIM:610185
HP:0002194	Delayed gross motor development	10765	KDM5B	OMIM:618109
HP:0002194	Delayed gross motor development	11020	IFT27	OMIM:615996
HP:0002194	Delayed gross motor development	10785	WDR4	OMIM:618347
HP:0002194	Delayed gross motor development	8924	HERC2	OMIM:615516
HP:0002194	Delayed gross motor development	6418	SET	OMIM:618106
HP:0002194	Delayed gross motor development	84320	ACBD6	OMIM:620785
HP:0002194	Delayed gross motor development	5279	PIGC	OMIM:617816
HP:0002194	Delayed gross motor development	7707	ZNF148	OMIM:617260
HP:0002194	Delayed gross motor development	6548	SLC9A1	OMIM:616291
HP:0002194	Delayed gross motor development	10847	SRCAP	OMIM:136140
HP:0002194	Delayed gross motor development	5515	PPP2CA	OMIM:618354
HP:0002194	Delayed gross motor development	60482	SLC5A7	OMIM:617143
HP:0002194	Delayed gross motor development	23114	NFASC	OMIM:618356
HP:0002194	Delayed gross motor development	57520	HECW2	OMIM:617268
HP:0002194	Delayed gross motor development	63895	PIEZO2	OMIM:617146
HP:0002194	Delayed gross motor development	80347	COASY	OMIM:615643
HP:0002194	Delayed gross motor development	23524	SRRM2	OMIM:620439
HP:0002194	Delayed gross motor development	55033	FKBP14	OMIM:614557
HP:0002194	Delayed gross motor development	8890	EIF2B4	OMIM:620314
HP:0002194	Delayed gross motor development	25885	POLR1A	OMIM:620675
HP:0002194	Delayed gross motor development	6263	RYR3	OMIM:620310
HP:0002194	Delayed gross motor development	26224	FBXL3	OMIM:606220
HP:0002194	Delayed gross motor development	90161	HS6ST2	OMIM:301025
HP:0002194	Delayed gross motor development	1725	DHPS	OMIM:618480
HP:0002194	Delayed gross motor development	4694	NDUFA1	OMIM:301020
HP:0002194	Delayed gross motor development	4784	NFIX	OMIM:602535
HP:0002194	Delayed gross motor development	10735	STAG2	OMIM:301022
HP:0002194	Delayed gross motor development	55967	NDUFA12	OMIM:618244
HP:0002194	Delayed gross motor development	8888	MCM3AP	OMIM:618124
HP:0002194	Delayed gross motor development	79641	ROGDI	OMIM:226750
HP:0002194	Delayed gross motor development	54496	PRMT7	OMIM:617157
HP:0002194	Delayed gross motor development	6334	SCN8A	OMIM:618364
HP:0002194	Delayed gross motor development	182	JAG1	OMIM:619574
HP:0002194	Delayed gross motor development	7169	TPM2	OMIM:609285
HP:0002194	Delayed gross motor development	10342	TFG	OMIM:615658
HP:0002194	Delayed gross motor development	51704	GPRC5B	OMIM:620447
HP:0002194	Delayed gross motor development	54463	RETREG1	OMIM:613115
HP:0002194	Delayed gross motor development	84188	FAR1	OMIM:619338
HP:0002194	Delayed gross motor development	64131	XYLT1	OMIM:615777
HP:0002194	Delayed gross motor development	9675	TTI1	OMIM:620445
HP:0002194	Delayed gross motor development	4141	MARS1	OMIM:620323
HP:0002194	Delayed gross motor development	20	ABCA2	OMIM:618808
HP:0002194	Delayed gross motor development	128989	TANGO2	ORPHA:480864
HP:0002194	Delayed gross motor development	8604	SLC25A12	OMIM:612949
HP:0002194	Delayed gross motor development	54806	AHI1	OMIM:608629
HP:0002194	Delayed gross motor development	51185	CRBN	OMIM:607417
HP:0002194	Delayed gross motor development	80311	KLHL15	OMIM:300982
HP:0002194	Delayed gross motor development	1781	DYNC1I2	OMIM:618492
HP:0002194	Delayed gross motor development	10943	MSL3	OMIM:301032
HP:0002194	Delayed gross motor development	23028	KDM1A	ORPHA:477993
HP:0002194	Delayed gross motor development	63931	MRPS14	OMIM:618378
HP:0002194	Delayed gross motor development	22808	MRAS	OMIM:618499
HP:0002194	Delayed gross motor development	54681	P4HTM	OMIM:618493
HP:0002194	Delayed gross motor development	80185	TTI2	OMIM:615541
HP:0002194	Delayed gross motor development	523	ATP6V1A	OMIM:618012
HP:0002194	Delayed gross motor development	54664	TMEM106B	OMIM:617964
HP:0002194	Delayed gross motor development	3908	LAMA2	OMIM:618138
HP:0002194	Delayed gross motor development	84668	HYCC1	OMIM:610532
HP:0002194	Delayed gross motor development	3930	LBR	OMIM:618019
HP:0002194	Delayed gross motor development	54551	MAGEL2	OMIM:615547
HP:0002194	Delayed gross motor development	84065	TMEM222	OMIM:619470
HP:0002194	Delayed gross motor development	5977	DPF2	OMIM:618027
HP:0002194	Delayed gross motor development	27107	ZBTB11	OMIM:618383
HP:0002194	Delayed gross motor development	22866	CNKSR2	OMIM:301008
HP:0002194	Delayed gross motor development	10815	CPLX1	OMIM:617976
HP:0002194	Delayed gross motor development	2588	GALNS	OMIM:253000
HP:0002194	Delayed gross motor development	3839	KPNA3	OMIM:620106
HP:0002194	Delayed gross motor development	80036	TRPM3	OMIM:620224
HP:0002194	Delayed gross motor development	8405	SPOP	OMIM:618828
HP:0002194	Delayed gross motor development	8405	SPOP	OMIM:618829
HP:0002194	Delayed gross motor development	1457	CSNK2A1	OMIM:617062
HP:0002194	Delayed gross motor development	84197	POMK	OMIM:616094
HP:0002194	Delayed gross motor development	5058	PAK1	OMIM:618158
HP:0002194	Delayed gross motor development	200894	ARL13B	OMIM:612291
HP:0002194	Delayed gross motor development	6472	SHMT2	OMIM:619121
HP:0002194	Delayed gross motor development	23233	EXOC6B	OMIM:618395
HP:0002194	Delayed gross motor development	28952	CCDC22	OMIM:300963
HP:0002194	Delayed gross motor development	79143	MBOAT7	OMIM:617188
HP:0002194	Delayed gross motor development	57688	ZSWIM6	OMIM:617865
HP:0002194	Delayed gross motor development	2893	GRIA4	OMIM:617864
HP:0002194	Delayed gross motor development	4047	LSS	OMIM:618840
HP:0002194	Delayed gross motor development	54802	TRIT1	OMIM:617873
HP:0002194	Delayed gross motor development	23154	NCDN	OMIM:619373
HP:0002194	Delayed gross motor development	1315	COPB1	OMIM:619255
HP:0002194	Delayed gross motor development	51780	KDM3B	OMIM:618846
HP:0002194	Delayed gross motor development	81615	TMEM163	OMIM:620243
HP:0002194	Delayed gross motor development	64802	NMNAT1	OMIM:619260
HP:0002194	Delayed gross motor development	1795	DOCK3	OMIM:618292
HP:0002194	Delayed gross motor development	11133	KPTN	ORPHA:397612
HP:0002194	Delayed gross motor development	64432	MRPS25	OMIM:619025
HP:0002194	Delayed gross motor development	3735	KARS1	OMIM:619147
HP:0002194	Delayed gross motor development	7543	ZFX	OMIM:301118
HP:0002194	Delayed gross motor development	221927	BRAT1	OMIM:618056
HP:0002194	Delayed gross motor development	4281	MID1	ORPHA:2745
HP:0002194	Delayed gross motor development	1460	CSNK2B	OMIM:618732
HP:0002194	Delayed gross motor development	22868	FASTKD2	OMIM:618855
HP:0002194	Delayed gross motor development	57194	ATP10A	ORPHA:411515
HP:0002194	Delayed gross motor development	4702	NDUFA8	OMIM:619272
HP:0002194	Delayed gross motor development	90522	YIF1B	OMIM:619125
HP:0002194	Delayed gross motor development	1317	SLC31A1	OMIM:620306
HP:0001319	Neonatal hypotonia	25970	SH2B1	ORPHA:261222
HP:0001319	Neonatal hypotonia	6535	SLC6A8	OMIM:300352
HP:0001319	Neonatal hypotonia	4099	MAG	OMIM:616680
HP:0001319	Neonatal hypotonia	1144	CHRND	OMIM:616322
HP:0001319	Neonatal hypotonia	57128	LYRM4	OMIM:615595
HP:0001319	Neonatal hypotonia	5913	RAPSN	OMIM:616326
HP:0001319	Neonatal hypotonia	4593	MUSK	OMIM:616325
HP:0001319	Neonatal hypotonia	1145	CHRNE	OMIM:616324
HP:0001319	Neonatal hypotonia	3008	H1-4	OMIM:617537
HP:0001319	Neonatal hypotonia	1134	CHRNA1	OMIM:608930
HP:0001319	Neonatal hypotonia	5457	POU4F1	ORPHA:314647
HP:0001319	Neonatal hypotonia	23261	CAMTA1	ORPHA:314647
HP:0001319	Neonatal hypotonia	23261	CAMTA1	OMIM:614756
HP:0001319	Neonatal hypotonia	617	BCS1L	OMIM:603358
HP:0001319	Neonatal hypotonia	58	ACTA1	ORPHA:171436
HP:0001319	Neonatal hypotonia	58	ACTA1	OMIM:161800
HP:0001319	Neonatal hypotonia	58	ACTA1	ORPHA:97240
HP:0001319	Neonatal hypotonia	7169	TPM2	ORPHA:171436
HP:0001319	Neonatal hypotonia	4703	NEB	ORPHA:171436
HP:0001319	Neonatal hypotonia	4703	NEB	OMIM:256030
HP:0001319	Neonatal hypotonia	10324	KLHL41	ORPHA:171436
HP:0001319	Neonatal hypotonia	56203	LMOD3	ORPHA:171436
HP:0001319	Neonatal hypotonia	1073	CFL2	ORPHA:171436
HP:0001319	Neonatal hypotonia	170302	ARX	OMIM:300004
HP:0001319	Neonatal hypotonia	84466	MEGF10	OMIM:614399
HP:0001319	Neonatal hypotonia	80055	PGAP1	OMIM:615802
HP:0001319	Neonatal hypotonia	84197	POMK	OMIM:615249
HP:0001319	Neonatal hypotonia	84197	POMK	OMIM:616094
HP:0001319	Neonatal hypotonia	23431	AP4E1	OMIM:613744
HP:0001319	Neonatal hypotonia	3508	IGHMBP2	OMIM:604320
HP:0001319	Neonatal hypotonia	79158	GNPTAB	OMIM:252500
HP:0001319	Neonatal hypotonia	3908	LAMA2	ORPHA:258
HP:0001319	Neonatal hypotonia	79147	FKRP	OMIM:606612
HP:0001319	Neonatal hypotonia	79147	FKRP	OMIM:236670
HP:0001319	Neonatal hypotonia	79147	FKRP	ORPHA:370980
HP:0001319	Neonatal hypotonia	64324	NSD1	OMIM:117550
HP:0001319	Neonatal hypotonia	284058	KANSL1	ORPHA:363958
HP:0001319	Neonatal hypotonia	284058	KANSL1	ORPHA:363965
HP:0001319	Neonatal hypotonia	274	BIN1	OMIM:255200
HP:0001319	Neonatal hypotonia	1272	CNTN1	OMIM:612540
HP:0001319	Neonatal hypotonia	6261	RYR1	OMIM:255320
HP:0001319	Neonatal hypotonia	6261	RYR1	OMIM:117000
HP:0001319	Neonatal hypotonia	6261	RYR1	ORPHA:178145
HP:0001319	Neonatal hypotonia	7994	KAT6A	ORPHA:457193
HP:0001319	Neonatal hypotonia	7994	KAT6A	OMIM:616268
HP:0001319	Neonatal hypotonia	157680	VPS13B	OMIM:216550
HP:0001319	Neonatal hypotonia	51651	PTRH2	ORPHA:456312
HP:0001319	Neonatal hypotonia	1303	COL12A1	OMIM:616470
HP:0001319	Neonatal hypotonia	1303	COL12A1	ORPHA:536516
HP:0001319	Neonatal hypotonia	132158	GLYCTK	OMIM:220120
HP:0001319	Neonatal hypotonia	7170	TPM3	OMIM:255310
HP:0001319	Neonatal hypotonia	93627	TBCK	ORPHA:488632
HP:0001319	Neonatal hypotonia	84300	UQCC2	OMIM:615824
HP:0001319	Neonatal hypotonia	51021	MRPS16	OMIM:610498
HP:0001319	Neonatal hypotonia	4929	NR4A2	ORPHA:1617
HP:0001319	Neonatal hypotonia	10716	TBR1	ORPHA:1617
HP:0001319	Neonatal hypotonia	4534	MTM1	ORPHA:596
HP:0001319	Neonatal hypotonia	4534	MTM1	OMIM:310400
HP:0001319	Neonatal hypotonia	4953	ODC1	OMIM:619075
HP:0001319	Neonatal hypotonia	4953	ODC1	ORPHA:544488
HP:0001319	Neonatal hypotonia	10717	AP4B1	OMIM:614066
HP:0001319	Neonatal hypotonia	5190	PEX6	OMIM:614863
HP:0001319	Neonatal hypotonia	2627	GATA6	ORPHA:2255
HP:0001319	Neonatal hypotonia	5828	PEX2	OMIM:614867
HP:0001319	Neonatal hypotonia	79751	SLC25A22	OMIM:609304
HP:0001319	Neonatal hypotonia	4784	NFIX	ORPHA:420179
HP:0001319	Neonatal hypotonia	375748	ERCC6L2	OMIM:615715
HP:0001319	Neonatal hypotonia	54499	TMCO1	OMIM:213980
HP:0001319	Neonatal hypotonia	4952	OCRL	OMIM:309000
HP:0001319	Neonatal hypotonia	4952	OCRL	ORPHA:534
HP:0001319	Neonatal hypotonia	55719	SLF2	OMIM:620184
HP:0001319	Neonatal hypotonia	285362	SUMF1	OMIM:272200
HP:0001319	Neonatal hypotonia	285362	SUMF1	ORPHA:585
HP:0001319	Neonatal hypotonia	6329	SCN4A	ORPHA:99734
HP:0001319	Neonatal hypotonia	6329	SCN4A	OMIM:168300
HP:0001319	Neonatal hypotonia	6329	SCN4A	ORPHA:684
HP:0001319	Neonatal hypotonia	6329	SCN4A	OMIM:620351
HP:0001319	Neonatal hypotonia	1737	DLAT	OMIM:245348
HP:0001319	Neonatal hypotonia	492	ATP2B3	OMIM:302500
HP:0001319	Neonatal hypotonia	2316	FLNA	OMIM:300321
HP:0001319	Neonatal hypotonia	8050	PDHX	OMIM:245349
HP:0001319	Neonatal hypotonia	55670	PEX26	OMIM:614873
HP:0001319	Neonatal hypotonia	440138	ALG11	OMIM:613661
HP:0001319	Neonatal hypotonia	5192	PEX10	OMIM:614871
HP:0001319	Neonatal hypotonia	9409	PEX16	OMIM:614877
HP:0001319	Neonatal hypotonia	2555	GABRA2	OMIM:618557
HP:0001319	Neonatal hypotonia	3708	ITPR1	OMIM:117360
HP:0001319	Neonatal hypotonia	9968	MED12	OMIM:305450
HP:0001319	Neonatal hypotonia	57492	ARID1B	ORPHA:251056
HP:0001319	Neonatal hypotonia	51244	CCDC174	OMIM:616816
HP:0001319	Neonatal hypotonia	11107	PRDM5	ORPHA:90354
HP:0001319	Neonatal hypotonia	84627	ZNF469	ORPHA:90354
HP:0001319	Neonatal hypotonia	51322	WAC	ORPHA:284169
HP:0001319	Neonatal hypotonia	51322	WAC	ORPHA:466950
HP:0001319	Neonatal hypotonia	55275	VPS53	OMIM:615851
HP:0001319	Neonatal hypotonia	54916	TMEM260	OMIM:617478
HP:0001319	Neonatal hypotonia	5048	PAFAH1B1	ORPHA:95232
HP:0001319	Neonatal hypotonia	4556	MT-TE	ORPHA:2596
HP:0001319	Neonatal hypotonia	6314	ATXN7	ORPHA:94147
HP:0001319	Neonatal hypotonia	6567	SLC16A2	ORPHA:59
HP:0001319	Neonatal hypotonia	6567	SLC16A2	OMIM:300523
HP:0001319	Neonatal hypotonia	55023	PHIP	ORPHA:589905
HP:0001319	Neonatal hypotonia	6927	HNF1A	ORPHA:324575
HP:0001319	Neonatal hypotonia	81570	CLPB	OMIM:616271
HP:0001319	Neonatal hypotonia	8573	CASK	OMIM:300422
HP:0001319	Neonatal hypotonia	91137	SLC25A46	OMIM:619303
HP:0001319	Neonatal hypotonia	667	DST	OMIM:614653
HP:0001319	Neonatal hypotonia	57107	PDSS2	OMIM:614652
HP:0001319	Neonatal hypotonia	5813	PURA	OMIM:616158
HP:0001319	Neonatal hypotonia	5813	PURA	ORPHA:314655
HP:0001319	Neonatal hypotonia	6878	TAF6	OMIM:617126
HP:0001319	Neonatal hypotonia	6857	SYT1	OMIM:618218
HP:0001319	Neonatal hypotonia	57459	GATAD2B	OMIM:615074
HP:0001319	Neonatal hypotonia	6134	RPL10	OMIM:300998
HP:0001319	Neonatal hypotonia	1291	COL6A1	OMIM:254090
HP:0001319	Neonatal hypotonia	1291	COL6A1	OMIM:158810
HP:0001319	Neonatal hypotonia	23345	SYNE1	ORPHA:88644
HP:0001319	Neonatal hypotonia	2290	FOXG1	OMIM:613454
HP:0001319	Neonatal hypotonia	79912	PYROXD1	OMIM:617258
HP:0001319	Neonatal hypotonia	8924	HERC2	OMIM:615516
HP:0001319	Neonatal hypotonia	8924	HERC2	OMIM:176270
HP:0001319	Neonatal hypotonia	51807	TUBA8	ORPHA:250972
HP:0001319	Neonatal hypotonia	203547	VMA21	OMIM:310440
HP:0001319	Neonatal hypotonia	85358	SHANK3	OMIM:606232
HP:0001319	Neonatal hypotonia	10102	TSFM	OMIM:610505
HP:0001319	Neonatal hypotonia	100033413	SNORD116-1	OMIM:176270
HP:0001319	Neonatal hypotonia	23742	NPAP1	OMIM:176270
HP:0001319	Neonatal hypotonia	338433	SNORD115-1	OMIM:176270
HP:0001319	Neonatal hypotonia	54551	MAGEL2	OMIM:176270
HP:0001319	Neonatal hypotonia	54551	MAGEL2	ORPHA:398069
HP:0001319	Neonatal hypotonia	54551	MAGEL2	ORPHA:177910
HP:0001319	Neonatal hypotonia	54551	MAGEL2	OMIM:615547
HP:0001319	Neonatal hypotonia	7681	MKRN3	OMIM:176270
HP:0001319	Neonatal hypotonia	145624	PWAR1	OMIM:176270
HP:0001319	Neonatal hypotonia	3653	IPW	OMIM:176270
HP:0001319	Neonatal hypotonia	791114	PWRN1	OMIM:176270
HP:0001319	Neonatal hypotonia	5575	PRKAR1B	OMIM:619680
HP:0001319	Neonatal hypotonia	6792	CDKL5	ORPHA:3095
HP:0001319	Neonatal hypotonia	22854	NTNG1	ORPHA:3095
HP:0001319	Neonatal hypotonia	9568	GABBR2	ORPHA:3095
HP:0001319	Neonatal hypotonia	4204	MECP2	ORPHA:3095
HP:0001319	Neonatal hypotonia	8243	SMC1A	ORPHA:3095
HP:0001319	Neonatal hypotonia	7707	ZNF148	OMIM:617260
HP:0001319	Neonatal hypotonia	388015	RTL1	ORPHA:254525
HP:0001319	Neonatal hypotonia	8788	DLK1	ORPHA:254525
HP:0001319	Neonatal hypotonia	55384	MEG3	ORPHA:254525
HP:0001319	Neonatal hypotonia	6651	SON	OMIM:617140
HP:0001319	Neonatal hypotonia	63895	PIEZO2	OMIM:617146
HP:0001319	Neonatal hypotonia	6492	SIM1	ORPHA:171829
HP:0001319	Neonatal hypotonia	6492	SIM1	ORPHA:398079
HP:0001319	Neonatal hypotonia	55033	FKBP14	OMIM:614557
HP:0001319	Neonatal hypotonia	1959	EGR2	OMIM:605253
HP:0001319	Neonatal hypotonia	9179	AP4M1	OMIM:612936
HP:0001319	Neonatal hypotonia	29954	POMT2	OMIM:236670
HP:0001319	Neonatal hypotonia	2218	FKTN	OMIM:236670
HP:0001319	Neonatal hypotonia	2218	FKTN	ORPHA:370980
HP:0001319	Neonatal hypotonia	10585	POMT1	OMIM:236670
HP:0001319	Neonatal hypotonia	10585	POMT1	ORPHA:370980
HP:0001319	Neonatal hypotonia	10585	POMT1	ORPHA:86812
HP:0001319	Neonatal hypotonia	9215	LARGE1	OMIM:236670
HP:0001319	Neonatal hypotonia	5934	RBL2	OMIM:619690
HP:0001319	Neonatal hypotonia	166378	AFG2A	ORPHA:457351
HP:0001319	Neonatal hypotonia	388753	COA6	OMIM:616501
HP:0001319	Neonatal hypotonia	5351	PLOD1	ORPHA:1900
HP:0001319	Neonatal hypotonia	54704	PDP1	ORPHA:79246
HP:0001319	Neonatal hypotonia	6638	SNRPN	ORPHA:177910
HP:0001319	Neonatal hypotonia	6638	SNRPN	ORPHA:177907
HP:0001319	Neonatal hypotonia	4692	NDN	ORPHA:177910
HP:0001319	Neonatal hypotonia	3172	HNF4A	ORPHA:263455
HP:0001319	Neonatal hypotonia	1760	DMPK	ORPHA:589821
HP:0001319	Neonatal hypotonia	5631	PRPS1	OMIM:301835
HP:0001319	Neonatal hypotonia	51305	KCNK9	ORPHA:166108
HP:0001319	Neonatal hypotonia	5144	PDE4D	ORPHA:439822
HP:0001319	Neonatal hypotonia	729920	CRPPA	ORPHA:370980
HP:0001319	Neonatal hypotonia	7874	USP7	ORPHA:500055
HP:0001319	Neonatal hypotonia	23040	MYT1L	OMIM:616521
HP:0001319	Neonatal hypotonia	23040	MYT1L	ORPHA:647799
HP:0001319	Neonatal hypotonia	8087	FXR1	OMIM:618822
HP:0001319	Neonatal hypotonia	8087	FXR1	OMIM:618823
HP:0001319	Neonatal hypotonia	259232	NALCN	ORPHA:371364
HP:0001319	Neonatal hypotonia	285175	UNC80	ORPHA:371364
HP:0001319	Neonatal hypotonia	1917	EEF1A2	OMIM:616409
HP:0001319	Neonatal hypotonia	5293	PIK3CD	ORPHA:221139
HP:0001319	Neonatal hypotonia	90417	KNSTRN	ORPHA:221139
HP:0001319	Neonatal hypotonia	8405	SPOP	OMIM:618829
HP:0001319	Neonatal hypotonia	10283	CWC27	ORPHA:166035
HP:0001319	Neonatal hypotonia	5189	PEX1	OMIM:601539
HP:0001319	Neonatal hypotonia	8567	MADD	OMIM:619004
HP:0001319	Neonatal hypotonia	8567	MADD	OMIM:619005
HP:0001319	Neonatal hypotonia	4841	NONO	OMIM:300967
HP:0001319	Neonatal hypotonia	51124	IER3IP1	OMIM:614231
HP:0001319	Neonatal hypotonia	2893	GRIA4	OMIM:617864
HP:0001319	Neonatal hypotonia	55704	CCDC88A	OMIM:617507
HP:0001319	Neonatal hypotonia	3033	HADH	ORPHA:71212
HP:0001319	Neonatal hypotonia	7284	TUFM	OMIM:610678
HP:0001319	Neonatal hypotonia	6663	SOX10	OMIM:609136
HP:0001319	Neonatal hypotonia	673	BRAF	OMIM:613707
HP:0001319	Neonatal hypotonia	51	ACOX1	OMIM:264470
HP:0001319	Neonatal hypotonia	1376	CPT2	OMIM:608836
HP:0001319	Neonatal hypotonia	126792	B3GALT6	ORPHA:536467
HP:0001319	Neonatal hypotonia	5331	PLCB3	OMIM:618961
HP:0001319	Neonatal hypotonia	340533	NEXMIF	ORPHA:85277
HP:0001319	Neonatal hypotonia	5528	PPP2R5D	ORPHA:457279
HP:0001319	Neonatal hypotonia	1315	COPB1	OMIM:619255
HP:0001319	Neonatal hypotonia	1984	EIF5A	OMIM:619376
HP:0001319	Neonatal hypotonia	10274	STAG1	OMIM:617635
HP:0001319	Neonatal hypotonia	133686	NADK2	ORPHA:431361
HP:0001319	Neonatal hypotonia	131118	DNAJC19	ORPHA:66634
HP:0001319	Neonatal hypotonia	2806	GOT2	OMIM:618721
HP:0001319	Neonatal hypotonia	3295	HSD17B4	OMIM:261515
HP:0001319	Neonatal hypotonia	57731	SPTBN4	OMIM:617519
HP:0001319	Neonatal hypotonia	124454	EARS2	OMIM:614924
HP:0001319	Neonatal hypotonia	7138	TNNT1	ORPHA:98902
HP:0001319	Neonatal hypotonia	6389	SDHA	OMIM:252011
HP:0001319	Neonatal hypotonia	29928	TIMM22	OMIM:618851
HP:0001319	Neonatal hypotonia	51733	UPB1	OMIM:613161
HP:0001319	Neonatal hypotonia	7043	TGFB3	OMIM:615582
HP:0001319	Neonatal hypotonia	57728	WDR19	OMIM:614378
HP:0001319	Neonatal hypotonia	1140	CHRNB1	OMIM:616314
HP:0001319	Neonatal hypotonia	1140	CHRNB1	OMIM:616313
HP:0001319	Neonatal hypotonia	2260	FGFR1	OMIM:615465
HP:0001319	Neonatal hypotonia	27445	PCLO	OMIM:608027
HP:0001319	Neonatal hypotonia	9990	SLC12A6	OMIM:218000
HP:0001319	Neonatal hypotonia	8802	SUCLG1	OMIM:245400
HP:0001319	Neonatal hypotonia	25839	COG4	ORPHA:263501
HP:0001319	Neonatal hypotonia	4524	MTHFR	ORPHA:395
HP:0001319	Neonatal hypotonia	23394	ADNP	ORPHA:404448
HP:0001319	Neonatal hypotonia	9896	FIG4	ORPHA:3472
HP:0001319	Neonatal hypotonia	55697	VAC14	ORPHA:3472
HP:0001319	Neonatal hypotonia	5718	PSMD12	ORPHA:529962
HP:0001319	Neonatal hypotonia	2186	BPTF	ORPHA:529962
HP:0001319	Neonatal hypotonia	4576	MT-TT	ORPHA:254857
HP:0001319	Neonatal hypotonia	57465	TBC1D24	ORPHA:352596
HP:0001319	Neonatal hypotonia	8504	PEX3	OMIM:614882
HP:0001319	Neonatal hypotonia	54332	GDAP1	ORPHA:99948
HP:0001319	Neonatal hypotonia	5193	PEX12	OMIM:614859
HP:0003700	Generalized amyotrophy	274	BIN1	ORPHA:169186
HP:0003700	Generalized amyotrophy	274	BIN1	OMIM:255200
HP:0003700	Generalized amyotrophy	10290	SPEG	ORPHA:169186
HP:0003700	Generalized amyotrophy	6261	RYR1	ORPHA:169186
HP:0003700	Generalized amyotrophy	7273	TTN	ORPHA:169186
HP:0003700	Generalized amyotrophy	7273	TTN	ORPHA:324604
HP:0003700	Generalized amyotrophy	55605	KIF21A	ORPHA:994
HP:0003700	Generalized amyotrophy	4927	NUP88	ORPHA:994
HP:0003700	Generalized amyotrophy	7846	TUBA1A	ORPHA:994
HP:0003700	Generalized amyotrophy	4654	MYOD1	ORPHA:994
HP:0003700	Generalized amyotrophy	54551	MAGEL2	ORPHA:994
HP:0003700	Generalized amyotrophy	4593	MUSK	ORPHA:994
HP:0003700	Generalized amyotrophy	4593	MUSK	OMIM:208150
HP:0003700	Generalized amyotrophy	5913	RAPSN	ORPHA:994
HP:0003700	Generalized amyotrophy	6572	SLC18A3	ORPHA:994
HP:0003700	Generalized amyotrophy	285489	DOK7	ORPHA:994
HP:0003700	Generalized amyotrophy	57190	SELENON	ORPHA:324604
HP:0003700	Generalized amyotrophy	57190	SELENON	OMIM:602771
HP:0003700	Generalized amyotrophy	4625	MYH7	ORPHA:324604
HP:0003700	Generalized amyotrophy	55131	RBM28	ORPHA:157954
HP:0003700	Generalized amyotrophy	1291	COL6A1	OMIM:254090
HP:0003700	Generalized amyotrophy	1291	COL6A1	ORPHA:75840
HP:0003700	Generalized amyotrophy	1291	COL6A1	ORPHA:610
HP:0003700	Generalized amyotrophy	1763	DNA2	OMIM:615156
HP:0003700	Generalized amyotrophy	100996717	NOTCH2NLC	OMIM:619473
HP:0003700	Generalized amyotrophy	5393	EXOSC9	OMIM:618065
HP:0003700	Generalized amyotrophy	2517	FUCA1	OMIM:230000
HP:0003700	Generalized amyotrophy	79912	PYROXD1	OMIM:617258
HP:0003700	Generalized amyotrophy	4967	OGDH	OMIM:203740
HP:0003700	Generalized amyotrophy	7415	VCP	OMIM:167320
HP:0003700	Generalized amyotrophy	7415	VCP	ORPHA:275872
HP:0003700	Generalized amyotrophy	7415	VCP	ORPHA:52430
HP:0003700	Generalized amyotrophy	5428	POLG	OMIM:258450
HP:0003700	Generalized amyotrophy	5428	POLG	OMIM:607459
HP:0003700	Generalized amyotrophy	11128	POLR3A	OMIM:264090
HP:0003700	Generalized amyotrophy	2521	FUS	ORPHA:275872
HP:0003700	Generalized amyotrophy	8878	SQSTM1	ORPHA:275872
HP:0003700	Generalized amyotrophy	23435	TARDBP	ORPHA:275872
HP:0003700	Generalized amyotrophy	29110	TBK1	ORPHA:275872
HP:0003700	Generalized amyotrophy	400916	CHCHD10	ORPHA:275872
HP:0003700	Generalized amyotrophy	79581	SLC52A2	OMIM:614707
HP:0003700	Generalized amyotrophy	1303	COL12A1	ORPHA:75840
HP:0003700	Generalized amyotrophy	1303	COL12A1	ORPHA:610
HP:0003700	Generalized amyotrophy	1292	COL6A2	ORPHA:75840
HP:0003700	Generalized amyotrophy	1292	COL6A2	ORPHA:610
HP:0003700	Generalized amyotrophy	1293	COL6A3	ORPHA:75840
HP:0003700	Generalized amyotrophy	1293	COL6A3	ORPHA:610
HP:0003700	Generalized amyotrophy	92667	MGME1	ORPHA:352447
HP:0003700	Generalized amyotrophy	92667	MGME1	OMIM:615084
HP:0003700	Generalized amyotrophy	4000	LMNA	OMIM:181350
HP:0003700	Generalized amyotrophy	4000	LMNA	OMIM:616516
HP:0003700	Generalized amyotrophy	4000	LMNA	OMIM:613205
HP:0003700	Generalized amyotrophy	7555	CNBP	OMIM:602668
HP:0003700	Generalized amyotrophy	80055	PGAP1	ORPHA:401820
HP:0003700	Generalized amyotrophy	6567	SLC16A2	OMIM:300523
HP:0003700	Generalized amyotrophy	81790	RNF170	OMIM:619686
HP:0003700	Generalized amyotrophy	10585	POMT1	ORPHA:86812
HP:0003700	Generalized amyotrophy	55152	DALRD3	OMIM:618910
HP:0003700	Generalized amyotrophy	54820	NDE1	OMIM:605013
HP:0003700	Generalized amyotrophy	6329	SCN4A	OMIM:620351
HP:0003700	Generalized amyotrophy	6329	SCN4A	OMIM:620369
HP:0003700	Generalized amyotrophy	3178	HNRNPA1	ORPHA:52430
HP:0003700	Generalized amyotrophy	3181	HNRNPA2B1	ORPHA:52430
HP:0003700	Generalized amyotrophy	6843	VAMP1	OMIM:618323
HP:0003700	Generalized amyotrophy	6843	VAMP1	ORPHA:251282
HP:0003700	Generalized amyotrophy	2859	GPR35	ORPHA:171
HP:0003700	Generalized amyotrophy	10507	SEMA4D	ORPHA:171
HP:0003700	Generalized amyotrophy	4485	MST1	ORPHA:171
HP:0003700	Generalized amyotrophy	6925	TCF4	ORPHA:171
HP:0003700	Generalized amyotrophy	3920	LAMP2	OMIM:300257
HP:0003700	Generalized amyotrophy	84823	LMNB2	OMIM:616540
HP:0003700	Generalized amyotrophy	84665	MYPN	ORPHA:171881
HP:0003700	Generalized amyotrophy	7169	TPM2	ORPHA:171881
HP:0003700	Generalized amyotrophy	7170	TPM3	ORPHA:171881
HP:0003700	Generalized amyotrophy	146862	UNC45B	OMIM:619178
HP:0003700	Generalized amyotrophy	4668	NAGA	OMIM:609241
HP:0003700	Generalized amyotrophy	4668	NAGA	ORPHA:79279
HP:0003700	Generalized amyotrophy	7084	TK2	OMIM:609560
HP:0003700	Generalized amyotrophy	10352	WARS2	OMIM:617710
HP:0003700	Generalized amyotrophy	10352	WARS2	ORPHA:572798
HP:0003700	Generalized amyotrophy	4358	MPV17	OMIM:256810
HP:0003700	Generalized amyotrophy	131118	DNAJC19	ORPHA:66634
HP:0003700	Generalized amyotrophy	9325	TRIP4	OMIM:616866
HP:0003700	Generalized amyotrophy	122622	ADSS1	ORPHA:482601
HP:0003700	Generalized amyotrophy	36	ACADSB	OMIM:610006
HP:0003700	Generalized amyotrophy	57731	SPTBN4	OMIM:617519
HP:0003700	Generalized amyotrophy	10558	SPTLC1	OMIM:620285
HP:0003700	Generalized amyotrophy	5832	ALDH18A1	OMIM:601162
HP:0003700	Generalized amyotrophy	56652	TWNK	OMIM:607459
HP:0003700	Generalized amyotrophy	205327	C2orf69	OMIM:619423
HP:0003700	Generalized amyotrophy	5277	PIGA	OMIM:300868
HP:0003700	Generalized amyotrophy	5277	PIGA	OMIM:301072
HP:0003700	Generalized amyotrophy	51067	YARS2	OMIM:613561
HP:0003700	Generalized amyotrophy	9531	BAG3	OMIM:612954
HP:0003700	Generalized amyotrophy	80324	PUS1	OMIM:600462
HP:0003700	Generalized amyotrophy	80324	PUS1	ORPHA:2598
HP:0003700	Generalized amyotrophy	10908	PNPLA6	ORPHA:139480
HP:0003700	Generalized amyotrophy	833	CARS1	OMIM:618891
HP:0003700	Generalized amyotrophy	29925	GMPPB	OMIM:615351
HP:0003700	Generalized amyotrophy	80208	SPG11	ORPHA:2822
HP:0003700	Generalized amyotrophy	57104	PNPLA2	ORPHA:98908
HP:0003700	Generalized amyotrophy	84466	MEGF10	OMIM:620249
HP:0003700	Generalized amyotrophy	55157	DARS2	ORPHA:137898
HP:0003700	Generalized amyotrophy	58	ACTA1	ORPHA:171439
HP:0003700	Generalized amyotrophy	390594	KBTBD13	ORPHA:171439
HP:0003700	Generalized amyotrophy	4703	NEB	ORPHA:171439
HP:0003700	Generalized amyotrophy	10324	KLHL41	ORPHA:171439
HP:0003700	Generalized amyotrophy	9997	SCO2	ORPHA:521411
HP:0003700	Generalized amyotrophy	6444	SGCD	ORPHA:219
HP:0003700	Generalized amyotrophy	57410	SCYL1	ORPHA:466794
HP:0008978	Necrotizing myopathy	7415	VCP	ORPHA:329478
HP:0008978	Necrotizing myopathy	7273	TTN	ORPHA:178464
HP:0008978	Necrotizing myopathy	779	CACNA1S	ORPHA:423
HP:0008978	Necrotizing myopathy	6261	RYR1	ORPHA:423
HP:0001324	Muscle weakness	58	ACTA1	ORPHA:97240
HP:0001324	Muscle weakness	58	ACTA1	ORPHA:97244
HP:0001324	Muscle weakness	58	ACTA1	ORPHA:171439
HP:0001324	Muscle weakness	57190	SELENON	ORPHA:97244
HP:0001324	Muscle weakness	1410	CRYAB	OMIM:608810
HP:0001324	Muscle weakness	1410	CRYAB	ORPHA:399058
HP:0001324	Muscle weakness	55791	LRIF1	OMIM:619477
HP:0001324	Muscle weakness	79188	TMEM43	OMIM:614302
HP:0001324	Muscle weakness	2673	GFPT1	OMIM:610542
HP:0001324	Muscle weakness	4534	MTM1	OMIM:310400
HP:0001324	Muscle weakness	79581	SLC52A2	OMIM:614707
HP:0001324	Muscle weakness	111	ADCY5	OMIM:606703
HP:0001324	Muscle weakness	64419	MTMR14	OMIM:160150
HP:0001324	Muscle weakness	1785	DNM2	OMIM:160150
HP:0001324	Muscle weakness	3714	JAG2	OMIM:619566
HP:0001324	Muscle weakness	1674	DES	OMIM:601419
HP:0001324	Muscle weakness	79152	FA2H	ORPHA:171629
HP:0001324	Muscle weakness	22880	MORC2	ORPHA:466768
HP:0001324	Muscle weakness	1103	CHAT	ORPHA:98914
HP:0001324	Muscle weakness	6843	VAMP1	ORPHA:98914
HP:0001324	Muscle weakness	127833	SYT2	ORPHA:98914
HP:0001324	Muscle weakness	6572	SLC18A3	ORPHA:98914
HP:0001324	Muscle weakness	6616	SNAP25	ORPHA:98914
HP:0001324	Muscle weakness	859	CAV3	ORPHA:488650
HP:0001324	Muscle weakness	8106	PABPN1	OMIM:164300
HP:0001324	Muscle weakness	57104	PNPLA2	OMIM:610717
HP:0001324	Muscle weakness	57104	PNPLA2	ORPHA:98908
HP:0001324	Muscle weakness	343641	TGM6	OMIM:613908
HP:0001324	Muscle weakness	343641	TGM6	ORPHA:276193
HP:0001324	Muscle weakness	7170	TPM3	OMIM:609284
HP:0001324	Muscle weakness	7170	TPM3	ORPHA:171439
HP:0001324	Muscle weakness	7169	TPM2	OMIM:609285
HP:0001324	Muscle weakness	7169	TPM2	ORPHA:171439
HP:0001324	Muscle weakness	84466	MEGF10	OMIM:620249
HP:0001324	Muscle weakness	390594	KBTBD13	ORPHA:171439
HP:0001324	Muscle weakness	4703	NEB	ORPHA:171439
HP:0001324	Muscle weakness	4620	MYH2	OMIM:605637
HP:0001324	Muscle weakness	8291	DYSF	ORPHA:178400
HP:0001324	Muscle weakness	4632	MYL1	OMIM:618414
HP:0001324	Muscle weakness	23345	SYNE1	OMIM:612998
HP:0001324	Muscle weakness	23299	BICD2	OMIM:615290
HP:0001324	Muscle weakness	10755	GIPC1	OMIM:618940
HP:0001324	Muscle weakness	100131801	PET100	OMIM:619055
HP:0001324	Muscle weakness	7072	TIA1	OMIM:619133
HP:0001324	Muscle weakness	9782	MATR3	OMIM:606070
HP:0001324	Muscle weakness	9782	MATR3	ORPHA:600
HP:0001324	Muscle weakness	3098	HK1	OMIM:618547
HP:0001324	Muscle weakness	10049	DNAJB6	OMIM:603511
HP:0001324	Muscle weakness	215	ABCD1	OMIM:300100
HP:0001324	Muscle weakness	9373	PLAA	ORPHA:521426
HP:0001324	Muscle weakness	9373	PLAA	OMIM:617527
HP:0001324	Muscle weakness	367	AR	OMIM:313200
HP:0001324	Muscle weakness	2934	GSN	OMIM:105120
HP:0001324	Muscle weakness	26191	PTPN22	ORPHA:397
HP:0001324	Muscle weakness	3106	HLA-B	ORPHA:397
HP:0001324	Muscle weakness	3106	HLA-B	ORPHA:3287
HP:0001324	Muscle weakness	3123	HLA-DRB1	ORPHA:397
HP:0001324	Muscle weakness	3123	HLA-DRB1	ORPHA:220393
HP:0001324	Muscle weakness	3123	HLA-DRB1	OMIM:126200
HP:0001324	Muscle weakness	8974	P4HA2	ORPHA:397
HP:0001324	Muscle weakness	6584	SLC22A5	ORPHA:158
HP:0001324	Muscle weakness	6584	SLC22A5	OMIM:212140
HP:0001324	Muscle weakness	54539	NDUFB11	ORPHA:2609
HP:0001324	Muscle weakness	25915	NDUFAF3	ORPHA:2609
HP:0001324	Muscle weakness	51103	NDUFAF1	ORPHA:2609
HP:0001324	Muscle weakness	91942	NDUFAF2	ORPHA:2609
HP:0001324	Muscle weakness	51300	TIMMDC1	ORPHA:2609
HP:0001324	Muscle weakness	4716	NDUFB10	ORPHA:2609
HP:0001324	Muscle weakness	4723	NDUFV1	ORPHA:2609
HP:0001324	Muscle weakness	55572	FOXRED1	ORPHA:2609
HP:0001324	Muscle weakness	284184	NDUFAF8	ORPHA:2609
HP:0001324	Muscle weakness	55863	TMEM126B	ORPHA:2609
HP:0001324	Muscle weakness	55863	TMEM126B	OMIM:618250
HP:0001324	Muscle weakness	4535	MT-ND1	ORPHA:2609
HP:0001324	Muscle weakness	4535	MT-ND1	ORPHA:255210
HP:0001324	Muscle weakness	4535	MT-ND1	ORPHA:550
HP:0001324	Muscle weakness	4537	MT-ND3	ORPHA:2609
HP:0001324	Muscle weakness	4537	MT-ND3	ORPHA:255210
HP:0001324	Muscle weakness	4729	NDUFV2	ORPHA:2609
HP:0001324	Muscle weakness	4694	NDUFA1	ORPHA:2609
HP:0001324	Muscle weakness	4720	NDUFS2	ORPHA:2609
HP:0001324	Muscle weakness	4724	NDUFS4	ORPHA:2609
HP:0001324	Muscle weakness	4724	NDUFS4	OMIM:252010
HP:0001324	Muscle weakness	4726	NDUFS6	ORPHA:2609
HP:0001324	Muscle weakness	4728	NDUFS8	ORPHA:2609
HP:0001324	Muscle weakness	4722	NDUFS3	ORPHA:2609
HP:0001324	Muscle weakness	79133	NDUFAF5	ORPHA:2609
HP:0001324	Muscle weakness	126328	NDUFA11	ORPHA:2609
HP:0001324	Muscle weakness	4709	NDUFB3	ORPHA:2609
HP:0001324	Muscle weakness	80224	NUBPL	ORPHA:2609
HP:0001324	Muscle weakness	29078	NDUFAF4	ORPHA:2609
HP:0001324	Muscle weakness	374291	NDUFS7	ORPHA:2609
HP:0001324	Muscle weakness	4700	NDUFA6	ORPHA:2609
HP:0001324	Muscle weakness	4536	MT-ND2	ORPHA:2609
HP:0001324	Muscle weakness	4536	MT-ND2	ORPHA:255210
HP:0001324	Muscle weakness	4719	NDUFS1	ORPHA:2609
HP:0001324	Muscle weakness	4715	NDUFB9	ORPHA:2609
HP:0001324	Muscle weakness	29925	GMPPB	OMIM:615350
HP:0001324	Muscle weakness	29925	GMPPB	OMIM:615351
HP:0001324	Muscle weakness	29925	GMPPB	ORPHA:363623
HP:0001324	Muscle weakness	23019	CNOT1	OMIM:618500
HP:0001324	Muscle weakness	1144	CHRND	OMIM:616322
HP:0001324	Muscle weakness	1144	CHRND	ORPHA:98913
HP:0001324	Muscle weakness	1145	CHRNE	OMIM:616324
HP:0001324	Muscle weakness	1145	CHRNE	ORPHA:98913
HP:0001324	Muscle weakness	57679	ALS2	ORPHA:247604
HP:0001324	Muscle weakness	57679	ALS2	OMIM:205100
HP:0001324	Muscle weakness	57679	ALS2	ORPHA:300605
HP:0001324	Muscle weakness	57679	ALS2	OMIM:607225
HP:0001324	Muscle weakness	11160	ERLIN2	ORPHA:247604
HP:0001324	Muscle weakness	51099	ABHD5	OMIM:275630
HP:0001324	Muscle weakness	3190	HNRNPK	ORPHA:453504
HP:0001324	Muscle weakness	3190	HNRNPK	ORPHA:352665
HP:0001324	Muscle weakness	5631	PRPS1	ORPHA:99014
HP:0001324	Muscle weakness	5631	PRPS1	ORPHA:1187
HP:0001324	Muscle weakness	5354	PLP1	ORPHA:99015
HP:0001324	Muscle weakness	4538	MT-ND4	ORPHA:255210
HP:0001324	Muscle weakness	4538	MT-ND4	ORPHA:550
HP:0001324	Muscle weakness	4567	MT-TL1	ORPHA:255210
HP:0001324	Muscle weakness	4567	MT-TL1	OMIM:545000
HP:0001324	Muscle weakness	4567	MT-TL1	ORPHA:480
HP:0001324	Muscle weakness	4567	MT-TL1	ORPHA:550
HP:0001324	Muscle weakness	4578	MT-TW	ORPHA:255210
HP:0001324	Muscle weakness	4578	MT-TW	ORPHA:550
HP:0001324	Muscle weakness	4577	MT-TV	ORPHA:255210
HP:0001324	Muscle weakness	4508	MT-ATP6	ORPHA:255210
HP:0001324	Muscle weakness	4508	MT-ATP6	ORPHA:254913
HP:0001324	Muscle weakness	4540	MT-ND5	ORPHA:255210
HP:0001324	Muscle weakness	4540	MT-ND5	ORPHA:550
HP:0001324	Muscle weakness	4541	MT-ND6	ORPHA:255210
HP:0001324	Muscle weakness	4541	MT-ND6	ORPHA:550
HP:0001324	Muscle weakness	4566	MT-TK	ORPHA:255210
HP:0001324	Muscle weakness	4566	MT-TK	OMIM:545000
HP:0001324	Muscle weakness	4566	MT-TK	ORPHA:1349
HP:0001324	Muscle weakness	79577	CDC73	ORPHA:143
HP:0001324	Muscle weakness	79577	CDC73	ORPHA:99880
HP:0001324	Muscle weakness	10528	NOP56	OMIM:614153
HP:0001324	Muscle weakness	10686	CLDN16	OMIM:248250
HP:0001324	Muscle weakness	120227	CYP2R1	OMIM:600081
HP:0001324	Muscle weakness	120227	CYP2R1	ORPHA:289157
HP:0001324	Muscle weakness	1161	ERCC8	OMIM:216400
HP:0001324	Muscle weakness	3908	LAMA2	ORPHA:258
HP:0001324	Muscle weakness	3908	LAMA2	OMIM:607855
HP:0001324	Muscle weakness	100996717	NOTCH2NLC	OMIM:603472
HP:0001324	Muscle weakness	23400	ATP13A2	ORPHA:314632
HP:0001324	Muscle weakness	410	ARSA	ORPHA:309271
HP:0001324	Muscle weakness	410	ARSA	ORPHA:309263
HP:0001324	Muscle weakness	410	ARSA	ORPHA:309256
HP:0001324	Muscle weakness	5660	PSAP	ORPHA:309271
HP:0001324	Muscle weakness	5660	PSAP	ORPHA:309263
HP:0001324	Muscle weakness	5660	PSAP	ORPHA:309256
HP:0001324	Muscle weakness	5660	PSAP	ORPHA:206436
HP:0001324	Muscle weakness	5660	PSAP	OMIM:249900
HP:0001324	Muscle weakness	79147	FKRP	OMIM:606612
HP:0001324	Muscle weakness	79147	FKRP	ORPHA:899
HP:0001324	Muscle weakness	6772	STAT1	OMIM:614162
HP:0001324	Muscle weakness	23321	TRIM2	OMIM:615490
HP:0001324	Muscle weakness	55154	MSTO1	OMIM:617675
HP:0001324	Muscle weakness	113189	CHST14	ORPHA:2953
HP:0001324	Muscle weakness	29940	DSE	ORPHA:2953
HP:0001324	Muscle weakness	1293	COL6A3	OMIM:620726
HP:0001324	Muscle weakness	1293	COL6A3	ORPHA:610
HP:0001324	Muscle weakness	1293	COL6A3	ORPHA:75840
HP:0001324	Muscle weakness	2200	FBN1	ORPHA:2833
HP:0001324	Muscle weakness	2200	FBN1	OMIM:184900
HP:0001324	Muscle weakness	1292	COL6A2	OMIM:620727
HP:0001324	Muscle weakness	1292	COL6A2	ORPHA:610
HP:0001324	Muscle weakness	1292	COL6A2	ORPHA:75840
HP:0001324	Muscle weakness	3423	IDS	ORPHA:217085
HP:0001324	Muscle weakness	9581	PREPL	OMIM:616224
HP:0001324	Muscle weakness	79184	BRCC3	ORPHA:280679
HP:0001324	Muscle weakness	2697	GJA1	ORPHA:2710
HP:0001324	Muscle weakness	84133	ZNRF3	ORPHA:1501
HP:0001324	Muscle weakness	7157	TP53	ORPHA:1501
HP:0001324	Muscle weakness	7157	TP53	ORPHA:96253
HP:0001324	Muscle weakness	5573	PRKAR1A	ORPHA:1501
HP:0001324	Muscle weakness	5573	PRKAR1A	ORPHA:520
HP:0001324	Muscle weakness	5573	PRKAR1A	ORPHA:1359
HP:0001324	Muscle weakness	1499	CTNNB1	ORPHA:1501
HP:0001324	Muscle weakness	1029	CDKN2A	ORPHA:1501
HP:0001324	Muscle weakness	7015	TERT	ORPHA:1501
HP:0001324	Muscle weakness	1130	LYST	ORPHA:167
HP:0001324	Muscle weakness	1130	LYST	OMIM:214500
HP:0001324	Muscle weakness	1277	COL1A1	ORPHA:287
HP:0001324	Muscle weakness	1289	COL5A1	ORPHA:287
HP:0001324	Muscle weakness	1290	COL5A2	ORPHA:287
HP:0001324	Muscle weakness	4524	MTHFR	OMIM:236250
HP:0001324	Muscle weakness	1303	COL12A1	OMIM:616471
HP:0001324	Muscle weakness	1303	COL12A1	ORPHA:610
HP:0001324	Muscle weakness	1303	COL12A1	ORPHA:75840
HP:0001324	Muscle weakness	4565	MT-TI	OMIM:545000
HP:0001324	Muscle weakness	4571	MT-TP	OMIM:545000
HP:0001324	Muscle weakness	4558	MT-TF	OMIM:545000
HP:0001324	Muscle weakness	4558	MT-TF	ORPHA:550
HP:0001324	Muscle weakness	1594	CYP27B1	OMIM:264700
HP:0001324	Muscle weakness	1594	CYP27B1	ORPHA:289157
HP:0001324	Muscle weakness	7386	UQCRFS1	OMIM:618775
HP:0001324	Muscle weakness	88	ACTN2	OMIM:618654
HP:0001324	Muscle weakness	5442	POLRMT	OMIM:619743
HP:0001324	Muscle weakness	9997	SCO2	OMIM:608908
HP:0001324	Muscle weakness	9997	SCO2	OMIM:604377
HP:0001324	Muscle weakness	790955	UQCC3	OMIM:616111
HP:0001324	Muscle weakness	844	CASQ1	OMIM:616231
HP:0001324	Muscle weakness	246243	RNASEH1	OMIM:616479
HP:0001324	Muscle weakness	388962	BOLA3	OMIM:614299
HP:0001324	Muscle weakness	4771	NF2	ORPHA:93921
HP:0001324	Muscle weakness	6598	SMARCB1	ORPHA:93921
HP:0001324	Muscle weakness	6598	SMARCB1	ORPHA:99966
HP:0001324	Muscle weakness	51004	COQ6	ORPHA:93921
HP:0001324	Muscle weakness	8216	LZTR1	ORPHA:93921
HP:0001324	Muscle weakness	8216	LZTR1	ORPHA:648
HP:0001324	Muscle weakness	54840	APTX	OMIM:208920
HP:0001324	Muscle weakness	79731	NARS2	OMIM:616239
HP:0001324	Muscle weakness	79731	NARS2	ORPHA:79134
HP:0001324	Muscle weakness	788	SLC25A20	ORPHA:159
HP:0001324	Muscle weakness	788	SLC25A20	OMIM:212138
HP:0001324	Muscle weakness	5373	PMM2	OMIM:212065
HP:0001324	Muscle weakness	4359	MPZ	ORPHA:101082
HP:0001324	Muscle weakness	4359	MPZ	OMIM:618184
HP:0001324	Muscle weakness	55621	TRMT1	OMIM:618302
HP:0001324	Muscle weakness	1763	DNA2	OMIM:615156
HP:0001324	Muscle weakness	779	CACNA1S	OMIM:170400
HP:0001324	Muscle weakness	779	CACNA1S	OMIM:188580
HP:0001324	Muscle weakness	6329	SCN4A	OMIM:170400
HP:0001324	Muscle weakness	6329	SCN4A	OMIM:168300
HP:0001324	Muscle weakness	6329	SCN4A	OMIM:608390
HP:0001324	Muscle weakness	6329	SCN4A	ORPHA:99735
HP:0001324	Muscle weakness	6329	SCN4A	ORPHA:98913
HP:0001324	Muscle weakness	142680	SLC34A3	OMIM:241530
HP:0001324	Muscle weakness	2318	FLNC	OMIM:614065
HP:0001324	Muscle weakness	54902	TTC19	OMIM:615157
HP:0001324	Muscle weakness	84665	MYPN	OMIM:617336
HP:0001324	Muscle weakness	92609	TIMM50	OMIM:617698
HP:0001324	Muscle weakness	92609	TIMM50	ORPHA:505216
HP:0001324	Muscle weakness	4191	MDH2	OMIM:617339
HP:0001324	Muscle weakness	5728	PTEN	ORPHA:109
HP:0001324	Muscle weakness	1180	CLCN1	OMIM:255700
HP:0001324	Muscle weakness	1180	CLCN1	OMIM:160800
HP:0001324	Muscle weakness	4669	NAGLU	OMIM:616491
HP:0001324	Muscle weakness	83636	C19orf12	OMIM:615043
HP:0001324	Muscle weakness	50485	SMARCAL1	ORPHA:1830
HP:0001324	Muscle weakness	56947	MFF	ORPHA:485421
HP:0001324	Muscle weakness	56947	MFF	OMIM:617086
HP:0001324	Muscle weakness	400916	CHCHD10	OMIM:615048
HP:0001324	Muscle weakness	56652	TWNK	OMIM:271245
HP:0001324	Muscle weakness	56652	TWNK	OMIM:607459
HP:0001324	Muscle weakness	487	ATP2A1	OMIM:601003
HP:0001324	Muscle weakness	5213	PFKM	ORPHA:371
HP:0001324	Muscle weakness	5213	PFKM	OMIM:232800
HP:0001324	Muscle weakness	339855	KY	OMIM:617114
HP:0001324	Muscle weakness	1758	DMP1	ORPHA:289176
HP:0001324	Muscle weakness	5167	ENPP1	ORPHA:289176
HP:0001324	Muscle weakness	654	BMP6	ORPHA:465508
HP:0001324	Muscle weakness	3077	HFE	ORPHA:465508
HP:0001324	Muscle weakness	2303	FOXC2	ORPHA:33001
HP:0001324	Muscle weakness	3339	HSPG2	OMIM:255800
HP:0001324	Muscle weakness	3339	HSPG2	ORPHA:800
HP:0001324	Muscle weakness	5837	PYGM	ORPHA:368
HP:0001324	Muscle weakness	5837	PYGM	OMIM:232600
HP:0001324	Muscle weakness	27247	NFU1	OMIM:605711
HP:0001324	Muscle weakness	10533	ATG7	OMIM:619422
HP:0001324	Muscle weakness	4509	MT-ATP8	ORPHA:480
HP:0001324	Muscle weakness	4509	MT-ATP8	ORPHA:254913
HP:0001324	Muscle weakness	50484	RRM2B	ORPHA:480
HP:0001324	Muscle weakness	54344	DPM3	ORPHA:263494
HP:0001324	Muscle weakness	54344	DPM3	OMIM:612937
HP:0001324	Muscle weakness	51117	COQ4	OMIM:616276
HP:0001324	Muscle weakness	5081	PAX7	OMIM:618578
HP:0001324	Muscle weakness	835	CASP2	OMIM:620653
HP:0001324	Muscle weakness	3762	KCNJ5	ORPHA:251274
HP:0001324	Muscle weakness	3762	KCNJ5	ORPHA:37553
HP:0001324	Muscle weakness	4001	LMNB1	ORPHA:99027
HP:0001324	Muscle weakness	1188	CLCNKB	ORPHA:358
HP:0001324	Muscle weakness	1188	CLCNKB	ORPHA:89938
HP:0001324	Muscle weakness	6559	SLC12A3	ORPHA:358
HP:0001324	Muscle weakness	6559	SLC12A3	OMIM:263800
HP:0001324	Muscle weakness	2260	FGFR1	ORPHA:478
HP:0001324	Muscle weakness	10371	SEMA3A	ORPHA:478
HP:0001324	Muscle weakness	81848	SPRY4	ORPHA:478
HP:0001324	Muscle weakness	23767	FLRT3	ORPHA:478
HP:0001324	Muscle weakness	128674	PROKR2	ORPHA:478
HP:0001324	Muscle weakness	79625	NDNF	ORPHA:478
HP:0001324	Muscle weakness	2253	FGF8	ORPHA:478
HP:0001324	Muscle weakness	389549	FEZF1	ORPHA:478
HP:0001324	Muscle weakness	1630	DCC	ORPHA:478
HP:0001324	Muscle weakness	3730	ANOS1	ORPHA:478
HP:0001324	Muscle weakness	54756	IL17RD	ORPHA:478
HP:0001324	Muscle weakness	6663	SOX10	ORPHA:478
HP:0001324	Muscle weakness	285025	CCDC141	ORPHA:478
HP:0001324	Muscle weakness	60675	PROK2	ORPHA:478
HP:0001324	Muscle weakness	55636	CHD7	ORPHA:478
HP:0001324	Muscle weakness	1848	DUSP6	ORPHA:478
HP:0001324	Muscle weakness	6870	TACR3	ORPHA:478
HP:0001324	Muscle weakness	55717	WDR11	ORPHA:478
HP:0001324	Muscle weakness	9394	HS6ST1	ORPHA:478
HP:0001324	Muscle weakness	8820	HESX1	ORPHA:478
HP:0001324	Muscle weakness	8822	FGF17	ORPHA:478
HP:0001324	Muscle weakness	435	ASL	ORPHA:23
HP:0001324	Muscle weakness	64132	XYLT2	OMIM:605822
HP:0001324	Muscle weakness	2074	ERCC6	OMIM:133540
HP:0001324	Muscle weakness	4572	MT-TQ	ORPHA:550
HP:0001324	Muscle weakness	4512	MT-CO1	ORPHA:550
HP:0001324	Muscle weakness	4512	MT-CO1	ORPHA:99845
HP:0001324	Muscle weakness	4513	MT-CO2	ORPHA:550
HP:0001324	Muscle weakness	4514	MT-CO3	ORPHA:550
HP:0001324	Muscle weakness	4514	MT-CO3	ORPHA:99845
HP:0001324	Muscle weakness	4574	MT-TS1	ORPHA:550
HP:0001324	Muscle weakness	4575	MT-TS2	ORPHA:550
HP:0001324	Muscle weakness	4564	MT-TH	ORPHA:550
HP:0001324	Muscle weakness	5351	PLOD1	OMIM:225400
HP:0001324	Muscle weakness	5351	PLOD1	ORPHA:1900
HP:0001324	Muscle weakness	56203	LMOD3	OMIM:616165
HP:0001324	Muscle weakness	8573	CASK	OMIM:300749
HP:0001324	Muscle weakness	79912	PYROXD1	OMIM:617258
HP:0001324	Muscle weakness	1756	DMD	OMIM:310200
HP:0001324	Muscle weakness	1756	DMD	ORPHA:98895
HP:0001324	Muscle weakness	1756	DMD	OMIM:300376
HP:0001324	Muscle weakness	2671	GFER	ORPHA:330054
HP:0001324	Muscle weakness	10102	TSFM	OMIM:610505
HP:0001324	Muscle weakness	1120	CHKB	OMIM:602541
HP:0001324	Muscle weakness	221496	LEMD2	OMIM:619322
HP:0001324	Muscle weakness	60482	SLC5A7	OMIM:617143
HP:0001324	Muscle weakness	478	ATP1A3	OMIM:601338
HP:0001324	Muscle weakness	478	ATP1A3	ORPHA:1171
HP:0001324	Muscle weakness	729920	CRPPA	OMIM:616052
HP:0001324	Muscle weakness	729920	CRPPA	ORPHA:899
HP:0001324	Muscle weakness	137682	NDUFAF6	OMIM:618239
HP:0001324	Muscle weakness	137682	NDUFAF6	ORPHA:3337
HP:0001324	Muscle weakness	1760	DMPK	OMIM:160900
HP:0001324	Muscle weakness	84892	POMGNT2	ORPHA:899
HP:0001324	Muscle weakness	148789	B3GALNT2	ORPHA:899
HP:0001324	Muscle weakness	29954	POMT2	ORPHA:899
HP:0001324	Muscle weakness	9215	LARGE1	ORPHA:899
HP:0001324	Muscle weakness	1282	COL4A1	ORPHA:899
HP:0001324	Muscle weakness	10329	RXYLT1	ORPHA:899
HP:0001324	Muscle weakness	1605	DAG1	ORPHA:899
HP:0001324	Muscle weakness	11041	B4GAT1	ORPHA:899
HP:0001324	Muscle weakness	10585	POMT1	ORPHA:899
HP:0001324	Muscle weakness	84197	POMK	ORPHA:899
HP:0001324	Muscle weakness	2218	FKTN	ORPHA:899
HP:0001324	Muscle weakness	2218	FKTN	OMIM:253800
HP:0001324	Muscle weakness	55624	POMGNT1	ORPHA:899
HP:0001324	Muscle weakness	55624	POMGNT1	OMIM:253280
HP:0001324	Muscle weakness	1297	COL9A1	ORPHA:166002
HP:0001324	Muscle weakness	1298	COL9A2	ORPHA:166002
HP:0001324	Muscle weakness	1299	COL9A3	ORPHA:166002
HP:0001324	Muscle weakness	4763	NF1	OMIM:601321
HP:0001324	Muscle weakness	6904	TBCD	ORPHA:496641
HP:0001324	Muscle weakness	6904	TBCD	OMIM:617193
HP:0001324	Muscle weakness	84196	USP48	ORPHA:96253
HP:0001324	Muscle weakness	9101	USP8	ORPHA:96253
HP:0001324	Muscle weakness	64072	CDH23	ORPHA:96253
HP:0001324	Muscle weakness	2908	NR3C1	ORPHA:96253
HP:0001324	Muscle weakness	673	BRAF	ORPHA:96253
HP:0001324	Muscle weakness	546	ATRX	ORPHA:96253
HP:0001324	Muscle weakness	7084	TK2	ORPHA:254875
HP:0001324	Muscle weakness	84340	GFM2	ORPHA:565624
HP:0001324	Muscle weakness	4621	MYH3	OMIM:193700
HP:0001324	Muscle weakness	56915	EXOSC5	OMIM:619576
HP:0001324	Muscle weakness	513	ATP5F1D	OMIM:618120
HP:0001324	Muscle weakness	513	ATP5F1D	ORPHA:254913
HP:0001324	Muscle weakness	4625	MYH7	OMIM:255160
HP:0001324	Muscle weakness	4625	MYH7	OMIM:608358
HP:0001324	Muscle weakness	55750	AGK	OMIM:212350
HP:0001324	Muscle weakness	773	CACNA1A	ORPHA:569
HP:0001324	Muscle weakness	773	CACNA1A	OMIM:108500
HP:0001324	Muscle weakness	112476	PRRT2	ORPHA:569
HP:0001324	Muscle weakness	6323	SCN1A	ORPHA:569
HP:0001324	Muscle weakness	477	ATP1A2	ORPHA:569
HP:0001324	Muscle weakness	2632	GBE1	ORPHA:206583
HP:0001324	Muscle weakness	2632	GBE1	OMIM:232500
HP:0001324	Muscle weakness	212	ALAS2	ORPHA:75563
HP:0001324	Muscle weakness	538	ATP7A	ORPHA:565
HP:0001324	Muscle weakness	80324	PUS1	OMIM:600462
HP:0001324	Muscle weakness	2583	B4GALNT1	ORPHA:101006
HP:0001324	Muscle weakness	112812	FDX2	OMIM:251900
HP:0001324	Muscle weakness	191	AHCY	ORPHA:88618
HP:0001324	Muscle weakness	4556	MT-TE	ORPHA:254864
HP:0001324	Muscle weakness	55687	TRMU	ORPHA:254864
HP:0001324	Muscle weakness	29967	LRP12	OMIM:620452
HP:0001324	Muscle weakness	29967	LRP12	OMIM:164310
HP:0001324	Muscle weakness	79736	TEFM	OMIM:620451
HP:0001324	Muscle weakness	11340	EXOSC8	OMIM:616081
HP:0001324	Muscle weakness	11340	EXOSC8	ORPHA:2254
HP:0001324	Muscle weakness	37	ACADVL	OMIM:201475
HP:0001324	Muscle weakness	6424	SFRP4	OMIM:265900
HP:0001324	Muscle weakness	3032	HADHB	ORPHA:746
HP:0001324	Muscle weakness	3030	HADHA	ORPHA:746
HP:0001324	Muscle weakness	246329	STAC3	ORPHA:168572
HP:0001324	Muscle weakness	246329	STAC3	OMIM:255995
HP:0001324	Muscle weakness	3181	HNRNPA2B1	OMIM:620460
HP:0001324	Muscle weakness	3181	HNRNPA2B1	OMIM:615422
HP:0001324	Muscle weakness	7504	XK	OMIM:300842
HP:0001324	Muscle weakness	2628	GATM	OMIM:134600
HP:0001324	Muscle weakness	2628	GATM	ORPHA:3337
HP:0001324	Muscle weakness	23287	AGTPBP1	OMIM:618276
HP:0001324	Muscle weakness	23287	AGTPBP1	ORPHA:2254
HP:0001324	Muscle weakness	226	ALDOA	OMIM:611881
HP:0001324	Muscle weakness	226	ALDOA	ORPHA:57
HP:0001324	Muscle weakness	54800	KLHL24	OMIM:620236
HP:0001324	Muscle weakness	3145	HMBS	OMIM:176000
HP:0001324	Muscle weakness	1291	COL6A1	ORPHA:610
HP:0001324	Muscle weakness	1291	COL6A1	ORPHA:75840
HP:0001324	Muscle weakness	26092	TOR1AIP1	OMIM:617072
HP:0001324	Muscle weakness	63899	NSUN3	OMIM:619012
HP:0001324	Muscle weakness	131118	DNAJC19	ORPHA:66634
HP:0001324	Muscle weakness	131118	DNAJC19	OMIM:610198
HP:0001324	Muscle weakness	60386	SLC25A19	OMIM:613710
HP:0001324	Muscle weakness	5236	PGM1	OMIM:614921
HP:0001324	Muscle weakness	7415	VCP	OMIM:613954
HP:0001324	Muscle weakness	8799	PEX11B	OMIM:614920
HP:0001324	Muscle weakness	1073	CFL2	OMIM:610687
HP:0001324	Muscle weakness	1376	CPT2	ORPHA:228302
HP:0001324	Muscle weakness	1376	CPT2	ORPHA:228305
HP:0001324	Muscle weakness	1376	CPT2	OMIM:255110
HP:0001324	Muscle weakness	22800	RRAS2	ORPHA:648
HP:0001324	Muscle weakness	867	CBL	ORPHA:648
HP:0001324	Muscle weakness	6016	RIT1	ORPHA:648
HP:0001324	Muscle weakness	6237	RRAS	ORPHA:648
HP:0001324	Muscle weakness	5894	RAF1	ORPHA:648
HP:0001324	Muscle weakness	22808	MRAS	ORPHA:648
HP:0001324	Muscle weakness	3845	KRAS	ORPHA:648
HP:0001324	Muscle weakness	200734	SPRED2	ORPHA:648
HP:0001324	Muscle weakness	4893	NRAS	ORPHA:648
HP:0001324	Muscle weakness	6654	SOS1	ORPHA:648
HP:0001324	Muscle weakness	6655	SOS2	ORPHA:648
HP:0001324	Muscle weakness	5781	PTPN11	ORPHA:648
HP:0001324	Muscle weakness	5922	RASA2	ORPHA:648
HP:0001324	Muscle weakness	4683	NBN	ORPHA:647
HP:0001324	Muscle weakness	6340	SCNN1G	ORPHA:526
HP:0001324	Muscle weakness	6338	SCNN1B	ORPHA:526
HP:0001324	Muscle weakness	6337	SCNN1A	ORPHA:526
HP:0001324	Muscle weakness	3593	IL12B	ORPHA:3287
HP:0001324	Muscle weakness	6945	MLX	ORPHA:3287
HP:0001324	Muscle weakness	2581	GALC	ORPHA:206436
HP:0001324	Muscle weakness	4693	NDP	ORPHA:649
HP:0001324	Muscle weakness	5216	PFN1	OMIM:614808
HP:0001324	Muscle weakness	10079	ATP9A	OMIM:620242
HP:0001324	Muscle weakness	1181	CLCN2	ORPHA:404
HP:0001324	Muscle weakness	124093	CCDC78	OMIM:614807
HP:0001324	Muscle weakness	1584	CYP11B1	ORPHA:403
HP:0001324	Muscle weakness	1585	CYP11B2	ORPHA:403
HP:0001324	Muscle weakness	5376	PMP22	ORPHA:640
HP:0001324	Muscle weakness	5376	PMP22	OMIM:162500
HP:0001324	Muscle weakness	54936	ADPRS	OMIM:618170
HP:0001324	Muscle weakness	6774	STAT3	ORPHA:520
HP:0001324	Muscle weakness	5371	PML	ORPHA:520
HP:0001324	Muscle weakness	5914	RARA	ORPHA:520
HP:0001324	Muscle weakness	359948	IRF2BP2	ORPHA:520
HP:0001324	Muscle weakness	81608	FIP1L1	ORPHA:520
HP:0001324	Muscle weakness	4869	NPM1	ORPHA:520
HP:0001324	Muscle weakness	54880	BCOR	ORPHA:520
HP:0001324	Muscle weakness	64859	NABP1	ORPHA:520
HP:0001324	Muscle weakness	6777	STAT5B	ORPHA:520
HP:0001324	Muscle weakness	4926	NUMA1	ORPHA:520
HP:0001324	Muscle weakness	7704	ZBTB16	ORPHA:520
HP:0001324	Muscle weakness	79718	TBL1XR1	ORPHA:520
HP:0001324	Muscle weakness	899	CCNF	OMIM:619141
HP:0001324	Muscle weakness	5257	PHKB	OMIM:261750
HP:0001324	Muscle weakness	65250	CPLANE1	ORPHA:65684
HP:0001324	Muscle weakness	57562	CEP126	ORPHA:65684
HP:0001324	Muscle weakness	9131	AIFM1	OMIM:300816
HP:0001324	Muscle weakness	9131	AIFM1	OMIM:310490
HP:0001324	Muscle weakness	5696	PSMB8	OMIM:256040
HP:0001324	Muscle weakness	5621	PRNP	ORPHA:282166
HP:0001324	Muscle weakness	51102	MECR	ORPHA:508093
HP:0001324	Muscle weakness	5393	EXOSC9	OMIM:618065
HP:0001324	Muscle weakness	5393	EXOSC9	ORPHA:2254
HP:0001324	Muscle weakness	8838	CCN6	OMIM:208230
HP:0001324	Muscle weakness	8838	CCN6	ORPHA:1159
HP:0001324	Muscle weakness	7148	TNXB	ORPHA:230839
HP:0001324	Muscle weakness	4758	NEU1	OMIM:256550
HP:0001324	Muscle weakness	4758	NEU1	ORPHA:812
HP:0001324	Muscle weakness	5111	PCNA	OMIM:615919
HP:0001324	Muscle weakness	51816	ADA2	ORPHA:820
HP:0001324	Muscle weakness	57176	VARS2	OMIM:615917
HP:0001324	Muscle weakness	2038	EPB42	ORPHA:822
HP:0001324	Muscle weakness	6521	SLC4A1	ORPHA:822
HP:0001324	Muscle weakness	6521	SLC4A1	OMIM:179800
HP:0001324	Muscle weakness	6710	SPTB	ORPHA:822
HP:0001324	Muscle weakness	6708	SPTA1	ORPHA:822
HP:0001324	Muscle weakness	286	ANK1	ORPHA:822
HP:0001324	Muscle weakness	6840	SVIL	OMIM:619040
HP:0001324	Muscle weakness	2617	GARS1	OMIM:619042
HP:0001324	Muscle weakness	6576	SLC25A1	OMIM:618197
HP:0001324	Muscle weakness	4649	MYO9A	OMIM:618198
HP:0001324	Muscle weakness	1352	COX10	OMIM:619046
HP:0001324	Muscle weakness	9197	SLC33A1	OMIM:612539
HP:0001324	Muscle weakness	2992	GYG1	OMIM:613507
HP:0001324	Muscle weakness	87178	PNPT1	ORPHA:319514
HP:0001324	Muscle weakness	7125	TNNC2	OMIM:620161
HP:0001324	Muscle weakness	1340	COX6B1	OMIM:619051
HP:0001324	Muscle weakness	514	ATP5F1E	ORPHA:254913
HP:0001324	Muscle weakness	498	ATP5F1A	ORPHA:254913
HP:0001324	Muscle weakness	84833	ATP5MK	ORPHA:254913
HP:0001324	Muscle weakness	91647	ATPAF2	ORPHA:254913
HP:0001324	Muscle weakness	7040	TGFB1	OMIM:131300
HP:0001324	Muscle weakness	7040	TGFB1	ORPHA:1328
HP:0001324	Muscle weakness	1272	CNTN1	OMIM:612540
HP:0001324	Muscle weakness	55858	TMEM165	OMIM:614727
HP:0001324	Muscle weakness	114034	TOE1	OMIM:614969
HP:0001324	Muscle weakness	9570	GOSR2	OMIM:620166
HP:0001324	Muscle weakness	2332	FMR1	ORPHA:93256
HP:0001324	Muscle weakness	10020	GNE	ORPHA:602
HP:0001324	Muscle weakness	7276	TTR	OMIM:105210
HP:0001324	Muscle weakness	1339	COX6A2	OMIM:619062
HP:0001324	Muscle weakness	7274	TTPA	ORPHA:96
HP:0001324	Muscle weakness	6687	SPG7	OMIM:607259
HP:0001324	Muscle weakness	26278	SACS	ORPHA:98
HP:0001324	Muscle weakness	1175	AP2S1	OMIM:600740
HP:0001324	Muscle weakness	23203	PMPCA	ORPHA:1170
HP:0001324	Muscle weakness	10282	BET1	OMIM:254100
HP:0001324	Muscle weakness	54805	CNNM2	OMIM:613882
HP:0001324	Muscle weakness	10352	WARS2	ORPHA:572798
HP:0001324	Muscle weakness	10352	WARS2	OMIM:617710
HP:0001324	Muscle weakness	55157	DARS2	OMIM:611105
HP:0001324	Muscle weakness	5230	PGK1	ORPHA:713
HP:0001324	Muscle weakness	5230	PGK1	OMIM:300653
HP:0001324	Muscle weakness	374393	FAM111B	OMIM:615704
HP:0001324	Muscle weakness	113278	SLC52A3	OMIM:211530
HP:0001324	Muscle weakness	2395	FXN	ORPHA:95
HP:0001324	Muscle weakness	10558	SPTLC1	ORPHA:36386
HP:0001324	Muscle weakness	10558	SPTLC1	ORPHA:300605
HP:0001324	Muscle weakness	25923	ATL3	ORPHA:36386
HP:0001324	Muscle weakness	9517	SPTLC2	ORPHA:36386
HP:0001324	Muscle weakness	51062	ATL1	ORPHA:36386
HP:0001324	Muscle weakness	3475	IFRD1	ORPHA:98771
HP:0001324	Muscle weakness	10801	SEPTIN9	OMIM:162100
HP:0001324	Muscle weakness	7809	BSND	ORPHA:89938
HP:0001324	Muscle weakness	1187	CLCNKA	ORPHA:89938
HP:0001324	Muscle weakness	5251	PHEX	ORPHA:89936
HP:0001324	Muscle weakness	8074	FGF23	ORPHA:89937
HP:0001324	Muscle weakness	149371	EXOC8	OMIM:619076
HP:0001324	Muscle weakness	5255	PHKA1	OMIM:300559
HP:0001324	Muscle weakness	51010	EXOSC3	ORPHA:2254
HP:0001324	Muscle weakness	51010	EXOSC3	OMIM:614678
HP:0001324	Muscle weakness	7443	VRK1	ORPHA:2254
HP:0001324	Muscle weakness	7443	VRK1	OMIM:607596
HP:0001324	Muscle weakness	91137	SLC25A46	ORPHA:2254
HP:0001324	Muscle weakness	91137	SLC25A46	OMIM:616505
HP:0001324	Muscle weakness	10290	SPEG	OMIM:615959
HP:0001324	Muscle weakness	90624	LYRM7	OMIM:615838
HP:0001324	Muscle weakness	11128	POLR3A	OMIM:264090
HP:0001324	Muscle weakness	9990	SLC12A6	OMIM:620068
HP:0001324	Muscle weakness	6609	SMPD1	OMIM:257200
HP:0001324	Muscle weakness	283209	PGM2L1	OMIM:620191
HP:0001324	Muscle weakness	23175	LPIN1	OMIM:268200
HP:0001324	Muscle weakness	23175	LPIN1	ORPHA:99845
HP:0001324	Muscle weakness	728294	D2HGDH	OMIM:600721
HP:0001324	Muscle weakness	2521	FUS	ORPHA:300605
HP:0001324	Muscle weakness	80208	SPG11	ORPHA:300605
HP:0001324	Muscle weakness	10280	SIGMAR1	ORPHA:300605
HP:0001324	Muscle weakness	2548	GAA	ORPHA:308552
HP:0001324	Muscle weakness	2548	GAA	OMIM:232300
HP:0001324	Muscle weakness	6261	RYR1	OMIM:117000
HP:0001324	Muscle weakness	6261	RYR1	ORPHA:466650
HP:0001324	Muscle weakness	6261	RYR1	ORPHA:98905
HP:0001324	Muscle weakness	5428	POLG	OMIM:613662
HP:0001324	Muscle weakness	5428	POLG	OMIM:607459
HP:0001324	Muscle weakness	28976	ACAD9	OMIM:611126
HP:0001324	Muscle weakness	84033	OBSCN	ORPHA:99845
HP:0001324	Muscle weakness	3662	IRF4	ORPHA:3452
HP:0001324	Muscle weakness	5191	PEX7	OMIM:614879
HP:0001324	Muscle weakness	7234	TRU-TCA1-1	OMIM:620198
HP:0001324	Muscle weakness	1962	EHHADH	ORPHA:3337
HP:0001324	Muscle weakness	6569	SLC34A1	ORPHA:3337
HP:0001324	Muscle weakness	10324	KLHL41	OMIM:615731
HP:0001324	Muscle weakness	5194	PEX13	OMIM:614885
HP:0001324	Muscle weakness	1374	CPT1A	OMIM:255120
HP:0001324	Muscle weakness	10133	OPTN	OMIM:613435
HP:0001324	Muscle weakness	91574	MTRFR	OMIM:613559
HP:0001324	Muscle weakness	55679	LIMS2	OMIM:616827
HP:0001324	Muscle weakness	710	SERPING1	OMIM:106100
HP:0001324	Muscle weakness	23479	ISCU	OMIM:255125
HP:0001324	Muscle weakness	6314	ATXN7	ORPHA:94147
HP:0001324	Muscle weakness	5832	ALDH18A1	ORPHA:447753
HP:0001324	Muscle weakness	5832	ALDH18A1	ORPHA:447760
HP:0001324	Muscle weakness	3991	LIPE	OMIM:615980
HP:0001324	Muscle weakness	23503	ZFYVE26	ORPHA:100996
HP:0001324	Muscle weakness	51067	YARS2	OMIM:613561
HP:0001324	Muscle weakness	3897	L1CAM	ORPHA:1497
HP:0001324	Muscle weakness	3679	ITGA7	OMIM:613204
HP:0001324	Muscle weakness	284119	CAVIN1	OMIM:613327
HP:0001324	Muscle weakness	5830	PEX5	OMIM:616716
HP:0001324	Muscle weakness	6310	ATXN1	OMIM:164400
HP:0001324	Muscle weakness	270	AMPD1	OMIM:615511
HP:0001324	Muscle weakness	7167	TPI1	OMIM:615512
HP:0001324	Muscle weakness	132	ADK	OMIM:614300
HP:0001324	Muscle weakness	6948	TCN2	OMIM:275350
HP:0001324	Muscle weakness	6775	STAT4	ORPHA:93552
HP:0001324	Muscle weakness	6696	SPP1	ORPHA:93552
HP:0001324	Muscle weakness	6303	SAT1	ORPHA:93552
HP:0001324	Muscle weakness	3654	IRAK1	ORPHA:93552
HP:0001324	Muscle weakness	11235	PDCD10	ORPHA:221061
HP:0001324	Muscle weakness	5290	PIK3CA	ORPHA:221061
HP:0001324	Muscle weakness	83605	CCM2	ORPHA:221061
HP:0001324	Muscle weakness	889	KRIT1	ORPHA:221061
HP:0001324	Muscle weakness	3074	HEXB	OMIM:268800
HP:0001324	Muscle weakness	10229	COQ7	OMIM:616733
HP:0001324	Muscle weakness	6606	SMN1	OMIM:253550
HP:0001324	Muscle weakness	84876	ORAI1	OMIM:615883
HP:0001324	Muscle weakness	57505	AARS2	OMIM:615889
HP:0001324	Muscle weakness	7200	TRH	OMIM:275120
HP:0001324	Muscle weakness	55033	FKBP14	OMIM:614557
HP:0001324	Muscle weakness	55033	FKBP14	ORPHA:300179
HP:0001324	Muscle weakness	6301	SARS1	OMIM:617709
HP:0001324	Muscle weakness	54822	TRPM7	OMIM:105500
HP:0001324	Muscle weakness	3767	KCNJ11	ORPHA:79134
HP:0001324	Muscle weakness	3767	KCNJ11	ORPHA:276580
HP:0001324	Muscle weakness	6833	ABCC8	ORPHA:79134
HP:0001324	Muscle weakness	6833	ABCC8	OMIM:618857
HP:0001324	Muscle weakness	50940	PDE11A	ORPHA:1359
HP:0001324	Muscle weakness	84679	SLC9A7	OMIM:301024
HP:0001324	Muscle weakness	64135	IFIH1	OMIM:182250
HP:0001324	Muscle weakness	55906	ZC4H2	OMIM:314580
HP:0001324	Muscle weakness	2821	GPI	OMIM:613470
HP:0001324	Muscle weakness	79572	ATP13A3	OMIM:265400
HP:0001324	Muscle weakness	7080	NKX2-1	ORPHA:95713
HP:0001324	Muscle weakness	7849	PAX8	ORPHA:95713
HP:0001324	Muscle weakness	7849	PAX8	ORPHA:95712
HP:0001324	Muscle weakness	1482	NKX2-5	ORPHA:95713
HP:0001324	Muscle weakness	1482	NKX2-5	ORPHA:95712
HP:0001324	Muscle weakness	2304	FOXE1	ORPHA:95713
HP:0001324	Muscle weakness	7253	TSHR	ORPHA:95713
HP:0001324	Muscle weakness	5172	SLC26A4	ORPHA:95713
HP:0001324	Muscle weakness	4358	MPV17	OMIM:256810
HP:0001324	Muscle weakness	10616	RBCK1	OMIM:615895
HP:0001324	Muscle weakness	10342	TFG	OMIM:615658
HP:0001324	Muscle weakness	27315	PGAP2	OMIM:614207
HP:0001324	Muscle weakness	51008	ASCC1	OMIM:616867
HP:0001324	Muscle weakness	9325	TRIP4	OMIM:616866
HP:0001324	Muscle weakness	291	SLC25A4	OMIM:615418
HP:0001324	Muscle weakness	6678	SPARC	OMIM:616507
HP:0001324	Muscle weakness	4594	MMUT	OMIM:251000
HP:0001324	Muscle weakness	20	ABCA2	OMIM:618808
HP:0001324	Muscle weakness	9056	SLC7A7	OMIM:222700
HP:0001324	Muscle weakness	4982	TNFRSF11B	OMIM:239000
HP:0001324	Muscle weakness	4000	LMNA	OMIM:151660
HP:0001324	Muscle weakness	4000	LMNA	OMIM:616516
HP:0001324	Muscle weakness	11280	SCN11A	OMIM:615548
HP:0001324	Muscle weakness	128989	TANGO2	OMIM:616878
HP:0001324	Muscle weakness	57817	HAMP	ORPHA:79230
HP:0001324	Muscle weakness	148738	HJV	ORPHA:79230
HP:0001324	Muscle weakness	5498	PPOX	ORPHA:79473
HP:0001324	Muscle weakness	6197	RPS6KA3	ORPHA:192
HP:0001324	Muscle weakness	2517	FUCA1	OMIM:230000
HP:0001324	Muscle weakness	29957	SLC25A24	OMIM:612289
HP:0001324	Muscle weakness	203228	C9orf72	OMIM:105550
HP:0001324	Muscle weakness	10128	LRPPRC	ORPHA:70472
HP:0001324	Muscle weakness	6697	SPR	ORPHA:70594
HP:0001324	Muscle weakness	6182	MRPL12	OMIM:618951
HP:0001324	Muscle weakness	122553	TRAPPC6B	OMIM:617862
HP:0001324	Muscle weakness	4780	NFE2L2	OMIM:617744
HP:0001324	Muscle weakness	57570	TRMT5	OMIM:616539
HP:0001324	Muscle weakness	8292	COLQ	ORPHA:98915
HP:0001324	Muscle weakness	3913	LAMB2	ORPHA:98915
HP:0001324	Muscle weakness	54676	GTPBP2	OMIM:617988
HP:0001324	Muscle weakness	2645	GCK	ORPHA:79299
HP:0001324	Muscle weakness	1134	CHRNA1	ORPHA:98913
HP:0001324	Muscle weakness	4038	LRP4	ORPHA:98913
HP:0001324	Muscle weakness	4038	LRP4	OMIM:616304
HP:0001324	Muscle weakness	1305	COL13A1	ORPHA:98913
HP:0001324	Muscle weakness	1140	CHRNB1	ORPHA:98913
HP:0001324	Muscle weakness	1140	CHRNB1	OMIM:616314
HP:0001324	Muscle weakness	4593	MUSK	ORPHA:98913
HP:0001324	Muscle weakness	5913	RAPSN	ORPHA:98913
HP:0001324	Muscle weakness	375790	AGRN	ORPHA:98913
HP:0001324	Muscle weakness	221264	AK9	ORPHA:98913
HP:0001324	Muscle weakness	285489	DOK7	ORPHA:98913
HP:0001324	Muscle weakness	617	BCS1L	OMIM:124000
HP:0001324	Muscle weakness	84628	NTNG2	OMIM:618718
HP:0001324	Muscle weakness	95	ACY1	OMIM:609924
HP:0001324	Muscle weakness	210	ALAD	ORPHA:100924
HP:0001324	Muscle weakness	3920	LAMP2	OMIM:300257
HP:0001324	Muscle weakness	178	AGL	OMIM:232400
HP:0001324	Muscle weakness	22943	DKK1	ORPHA:268882
HP:0001324	Muscle weakness	23435	TARDBP	OMIM:612069
HP:0001324	Muscle weakness	23533	PIK3R5	OMIM:615217
HP:0001324	Muscle weakness	8086	AAAS	OMIM:231550
HP:0001324	Muscle weakness	6389	SDHA	OMIM:252011
HP:0001324	Muscle weakness	9451	EIF2AK3	ORPHA:1667
HP:0001324	Muscle weakness	101929726	MYMX	OMIM:619941
HP:0001324	Muscle weakness	115286	SLC25A26	OMIM:616794
HP:0001324	Muscle weakness	529	ATP6V1E1	OMIM:617402
HP:0001324	Muscle weakness	29110	TBK1	OMIM:616439
HP:0001324	Muscle weakness	1235	CCR6	ORPHA:220393
HP:0001324	Muscle weakness	1490	CCN2	ORPHA:220393
HP:0001324	Muscle weakness	3663	IRF5	ORPHA:220393
HP:0001324	Muscle weakness	857	CAV1	ORPHA:220393
HP:0001324	Muscle weakness	131377	KLHL40	OMIM:615348
HP:0001324	Muscle weakness	8878	SQSTM1	OMIM:616437
HP:0001324	Muscle weakness	6647	SOD1	OMIM:105400
HP:0001324	Muscle weakness	5630	PRPH	OMIM:105400
HP:0001324	Muscle weakness	1639	DCTN1	OMIM:105400
HP:0001324	Muscle weakness	4744	NEFH	OMIM:105400
HP:0001324	Muscle weakness	2110	ETFDH	OMIM:231680
HP:0001324	Muscle weakness	2108	ETFA	OMIM:231680
HP:0001324	Muscle weakness	2109	ETFB	OMIM:231680
HP:0001324	Muscle weakness	4668	NAGA	ORPHA:79279
HP:0001324	Muscle weakness	3759	KCNJ2	ORPHA:37553
HP:0001324	Muscle weakness	3119	HLA-DQB1	OMIM:126200
HP:0001324	Muscle weakness	8506	CNTNAP1	OMIM:618186
HP:0001324	Muscle weakness	8506	CNTNAP1	OMIM:616286
HP:0001324	Muscle weakness	112	ADCY6	OMIM:616287
HP:0001324	Muscle weakness	9289	ADGRG1	ORPHA:98889
HP:0001324	Muscle weakness	27286	SRPX2	ORPHA:98889
HP:0001324	Muscle weakness	6472	SHMT2	OMIM:619121
HP:0001324	Muscle weakness	10730	YME1L1	OMIM:617302
HP:0001324	Muscle weakness	4702	NDUFA8	OMIM:619272
HP:0001324	Muscle weakness	7273	TTN	ORPHA:324604
HP:0001324	Muscle weakness	26235	FBXL4	OMIM:615471
HP:0001324	Muscle weakness	2775	GNAO1	OMIM:617493
HP:0001324	Muscle weakness	2775	GNAO1	ORPHA:1934
HP:0001324	Muscle weakness	57128	LYRM4	OMIM:615595
HP:0001324	Muscle weakness	64116	SLC39A8	OMIM:616721
HP:0001324	Muscle weakness	64116	SLC39A8	ORPHA:468699
HP:0001324	Muscle weakness	23394	ADNP	OMIM:615873
HP:0001324	Muscle weakness	8818	DPM2	ORPHA:329178
HP:0001324	Muscle weakness	781	CACNA2D1	OMIM:620149
HP:0001324	Muscle weakness	781	CACNA2D1	ORPHA:442835
HP:0001324	Muscle weakness	56623	INPP5E	OMIM:213300
HP:0001324	Muscle weakness	7138	TNNT1	OMIM:620389
HP:0001324	Muscle weakness	6571	SLC18A2	ORPHA:352649
HP:0001324	Muscle weakness	6571	SLC18A2	OMIM:618049
HP:0001324	Muscle weakness	170302	ARX	OMIM:308350
HP:0001324	Muscle weakness	170302	ARX	ORPHA:1934
HP:0001324	Muscle weakness	3073	HEXA	OMIM:272800
HP:0001324	Muscle weakness	57165	GJC2	OMIM:608804
HP:0001324	Muscle weakness	55610	VPS50	OMIM:619685
HP:0001324	Muscle weakness	11277	TREX1	OMIM:225750
HP:0001324	Muscle weakness	10978	CLP1	ORPHA:411493
HP:0001324	Muscle weakness	10659	CELF2	OMIM:619561
HP:0001324	Muscle weakness	10659	CELF2	ORPHA:442835
HP:0001324	Muscle weakness	51506	UFC1	OMIM:618076
HP:0001324	Muscle weakness	63895	PIEZO2	OMIM:617146
HP:0001324	Muscle weakness	9342	SNAP29	ORPHA:66631
HP:0001324	Muscle weakness	9342	SNAP29	OMIM:609528
HP:0001324	Muscle weakness	5917	RARS1	ORPHA:438114
HP:0001324	Muscle weakness	5917	RARS1	OMIM:616140
HP:0001324	Muscle weakness	1644	DDC	ORPHA:35708
HP:0001324	Muscle weakness	443	ASPA	ORPHA:314918
HP:0001324	Muscle weakness	443	ASPA	ORPHA:314911
HP:0001324	Muscle weakness	3097	HIVEP2	OMIM:616977
HP:0001324	Muscle weakness	25885	POLR1A	OMIM:620675
HP:0001324	Muscle weakness	55768	NGLY1	ORPHA:404454
HP:0001324	Muscle weakness	54820	NDE1	OMIM:605013
HP:0001324	Muscle weakness	79158	GNPTAB	OMIM:252500
HP:0001324	Muscle weakness	1798	DPAGT1	ORPHA:353327
HP:0001324	Muscle weakness	85365	ALG2	ORPHA:353327
HP:0001324	Muscle weakness	199857	ALG14	ORPHA:353327
HP:0001324	Muscle weakness	55250	ELP2	OMIM:617270
HP:0001324	Muscle weakness	79868	ALG13	ORPHA:324422
HP:0001324	Muscle weakness	112939	NACC1	OMIM:617393
HP:0001324	Muscle weakness	8913	CACNA1G	OMIM:618087
HP:0001324	Muscle weakness	4705	NDUFA10	OMIM:618243
HP:0001324	Muscle weakness	9512	PMPCB	OMIM:617954
HP:0001324	Muscle weakness	816	CAMK2B	OMIM:617799
HP:0001324	Muscle weakness	51079	NDUFA13	OMIM:618249
HP:0001324	Muscle weakness	819	CAMLG	OMIM:620201
HP:0001324	Muscle weakness	8604	SLC25A12	OMIM:612949
HP:0001324	Muscle weakness	5805	PTS	ORPHA:13
HP:0001324	Muscle weakness	8802	SUCLG1	OMIM:245400
HP:0001324	Muscle weakness	6792	CDKL5	ORPHA:505652
HP:0001324	Muscle weakness	6792	CDKL5	ORPHA:1934
HP:0001324	Muscle weakness	6712	SPTBN2	OMIM:600224
HP:0001324	Muscle weakness	1327	COX4I1	OMIM:619060
HP:0001324	Muscle weakness	4633	MYL2	ORPHA:2020
HP:0001324	Muscle weakness	9200	HACD1	ORPHA:2020
HP:0001324	Muscle weakness	51776	MAP3K20	ORPHA:2020
HP:0001324	Muscle weakness	6390	SDHB	OMIM:619224
HP:0001324	Muscle weakness	6390	SDHB	ORPHA:3208
HP:0001324	Muscle weakness	84342	COG8	OMIM:611182
HP:0001324	Muscle weakness	84342	COG8	ORPHA:95428
HP:0001324	Muscle weakness	5277	PIGA	OMIM:300868
HP:0001324	Muscle weakness	2903	GRIN2A	ORPHA:289266
HP:0001324	Muscle weakness	3737	KCNA2	ORPHA:442835
HP:0001324	Muscle weakness	1759	DNM1	ORPHA:442835
HP:0001324	Muscle weakness	1759	DNM1	OMIM:620352
HP:0001324	Muscle weakness	8120	AP3B2	ORPHA:442835
HP:0001324	Muscle weakness	523	ATP6V1A	ORPHA:442835
HP:0001324	Muscle weakness	10991	SLC38A3	ORPHA:442835
HP:0001324	Muscle weakness	51343	FZR1	ORPHA:442835
HP:0001324	Muscle weakness	3747	KCNC2	ORPHA:442835
HP:0001324	Muscle weakness	3747	KCNC2	OMIM:619913
HP:0001324	Muscle weakness	1917	EEF1A2	ORPHA:442835
HP:0001324	Muscle weakness	23219	FBXO28	ORPHA:442835
HP:0001324	Muscle weakness	2561	GABRB2	ORPHA:442835
HP:0001324	Muscle weakness	8831	SYNGAP1	ORPHA:442835
HP:0001324	Muscle weakness	2558	GABRA5	ORPHA:442835
HP:0001324	Muscle weakness	2906	GRIN2D	ORPHA:442835
HP:0001324	Muscle weakness	116150	NUS1	ORPHA:442835
HP:0001324	Muscle weakness	1213	CLTC	ORPHA:442835
HP:0001324	Muscle weakness	51741	WWOX	ORPHA:442835
HP:0001324	Muscle weakness	23334	SZT2	ORPHA:442835
HP:0001324	Muscle weakness	348980	HCN1	ORPHA:442835
HP:0001324	Muscle weakness	25977	NECAP1	ORPHA:442835
HP:0001324	Muscle weakness	23241	PACS2	ORPHA:442835
HP:0001324	Muscle weakness	16	AARS1	ORPHA:442835
HP:0001324	Muscle weakness	6334	SCN8A	ORPHA:442835
HP:0001324	Muscle weakness	9568	GABBR2	ORPHA:442835
HP:0001324	Muscle weakness	9568	GABBR2	OMIM:617904
HP:0001324	Muscle weakness	2555	GABRA2	ORPHA:442835
HP:0001324	Muscle weakness	55152	DALRD3	ORPHA:442835
HP:0001324	Muscle weakness	26999	CYFIP2	ORPHA:442835
HP:0001324	Muscle weakness	4915	NTRK2	ORPHA:442835
HP:0001324	Muscle weakness	25973	PARS2	ORPHA:442835
HP:0001324	Muscle weakness	23097	CDK19	ORPHA:442835
HP:0001324	Muscle weakness	2257	FGF12	ORPHA:442835
HP:0001324	Muscle weakness	5530	PPP3CA	ORPHA:442835
HP:0001324	Muscle weakness	22906	TRAK1	ORPHA:442835
HP:0001324	Muscle weakness	2566	GABRG2	ORPHA:442835
HP:0001324	Muscle weakness	7532	YWHAG	ORPHA:442835
HP:0001324	Muscle weakness	79876	UBA5	ORPHA:442835
HP:0001324	Muscle weakness	6328	SCN3A	ORPHA:442835
HP:0001324	Muscle weakness	774	CACNA1B	ORPHA:442835
HP:0001324	Muscle weakness	51412	ACTL6B	ORPHA:442835
HP:0001324	Muscle weakness	2290	FOXG1	ORPHA:442835
HP:0001324	Muscle weakness	6506	SLC1A2	ORPHA:442835
HP:0001324	Muscle weakness	8867	SYNJ1	ORPHA:442835
HP:0001324	Muscle weakness	3745	KCNB1	ORPHA:442835
HP:0001324	Muscle weakness	284111	SLC13A5	ORPHA:442835
HP:0001324	Muscle weakness	22866	CNKSR2	ORPHA:442835
HP:0001324	Muscle weakness	79947	DHDDS	ORPHA:442835
HP:0001324	Muscle weakness	3028	HSD17B10	ORPHA:391428
HP:0001324	Muscle weakness	8943	AP3D1	OMIM:617050
HP:0001324	Muscle weakness	253738	EBF3	OMIM:617330
HP:0001324	Muscle weakness	5281	PIGF	OMIM:619356
HP:0001324	Muscle weakness	84879	MFSD2A	OMIM:616486
HP:0001324	Muscle weakness	10815	CPLX1	OMIM:617976
HP:0001324	Muscle weakness	116115	ZNF526	OMIM:619877
HP:0001324	Muscle weakness	9091	PIGQ	OMIM:618548
HP:0001324	Muscle weakness	9091	PIGQ	ORPHA:1934
HP:0001324	Muscle weakness	3251	HPRT1	OMIM:300322
HP:0001324	Muscle weakness	253959	RALGAPA1	OMIM:618797
HP:0001324	Muscle weakness	2273	FHL1	OMIM:300717
HP:0001324	Muscle weakness	163175	LGI4	OMIM:617468
HP:0001324	Muscle weakness	3708	ITPR1	OMIM:117360
HP:0001324	Muscle weakness	3708	ITPR1	OMIM:206700
HP:0001324	Muscle weakness	57038	RARS2	OMIM:611523
HP:0001324	Muscle weakness	10681	GNB5	ORPHA:542306
HP:0001324	Muscle weakness	10667	FARS2	ORPHA:466722
HP:0001324	Muscle weakness	4841	NONO	ORPHA:466791
HP:0001324	Muscle weakness	7355	SLC35A2	OMIM:300896
HP:0001324	Muscle weakness	125988	MICOS13	OMIM:618329
HP:0001324	Muscle weakness	2902	GRIN1	OMIM:619814
HP:0001324	Muscle weakness	2902	GRIN1	ORPHA:1934
HP:0001324	Muscle weakness	6392	SDHD	ORPHA:3208
HP:0001324	Muscle weakness	644096	SDHAF1	ORPHA:3208
HP:0001324	Muscle weakness	51227	PIGP	OMIM:617599
HP:0001324	Muscle weakness	51227	PIGP	ORPHA:1934
HP:0001324	Muscle weakness	9725	TMEM63A	OMIM:618688
HP:0001324	Muscle weakness	50628	GEMIN4	OMIM:617913
HP:0001324	Muscle weakness	5048	PAFAH1B1	ORPHA:95232
HP:0001324	Muscle weakness	57731	SPTBN4	OMIM:617519
HP:0001324	Muscle weakness	124454	EARS2	OMIM:614924
HP:0001324	Muscle weakness	1719	DHFR	OMIM:613839
HP:0001324	Muscle weakness	28962	OSTM1	OMIM:259720
HP:0001324	Muscle weakness	6567	SLC16A2	ORPHA:59
HP:0001324	Muscle weakness	64432	MRPS25	OMIM:619025
HP:0001324	Muscle weakness	9742	IFT140	OMIM:266920
HP:0001324	Muscle weakness	8884	SLC5A6	OMIM:618973
HP:0001324	Muscle weakness	133686	NADK2	OMIM:616034
HP:0001324	Muscle weakness	3658	IREB2	OMIM:618451
HP:0001324	Muscle weakness	221692	PHACTR1	OMIM:618298
HP:0001324	Muscle weakness	10243	GPHN	OMIM:615501
HP:0001324	Muscle weakness	3329	HSPD1	OMIM:612233
HP:0001324	Muscle weakness	8449	DHX16	OMIM:618733
HP:0001324	Muscle weakness	7407	VARS1	OMIM:617802
HP:0001324	Muscle weakness	27445	PCLO	OMIM:608027
HP:0001324	Muscle weakness	3736	KCNA1	ORPHA:1934
HP:0001324	Muscle weakness	140679	SLC32A1	ORPHA:1934
HP:0001324	Muscle weakness	81603	TRIM8	ORPHA:1934
HP:0001324	Muscle weakness	79751	SLC25A22	ORPHA:1934
HP:0001324	Muscle weakness	150094	SIK1	ORPHA:1934
HP:0001324	Muscle weakness	23312	DMXL2	ORPHA:1934
HP:0001324	Muscle weakness	2917	GRM7	ORPHA:1934
HP:0001324	Muscle weakness	11284	PNKP	ORPHA:1934
HP:0001324	Muscle weakness	6326	SCN2A	ORPHA:1934
HP:0001324	Muscle weakness	6324	SCN1B	ORPHA:1934
HP:0001324	Muscle weakness	4761	NEUROD2	ORPHA:1934
HP:0001324	Muscle weakness	2760	GM2A	OMIM:272750
HP:0001324	Muscle weakness	90952	ESAM	OMIM:620371
HP:0001324	Muscle weakness	50717	DCAF8	OMIM:610100
HP:0001324	Muscle weakness	4747	NEFL	ORPHA:99939
HP:0001324	Muscle weakness	4747	NEFL	ORPHA:101085
HP:0001324	Muscle weakness	4747	NEFL	OMIM:607684
HP:0001324	Muscle weakness	4747	NEFL	OMIM:607734
HP:0001324	Muscle weakness	4747	NEFL	OMIM:617882
HP:0001324	Muscle weakness	9499	MYOT	ORPHA:266
HP:0001324	Muscle weakness	7879	RAB7A	OMIM:600882
HP:0001324	Muscle weakness	10743	RAI1	ORPHA:477817
HP:0001324	Muscle weakness	54332	GDAP1	OMIM:607831
HP:0001324	Muscle weakness	54332	GDAP1	OMIM:607706
HP:0001324	Muscle weakness	54332	GDAP1	ORPHA:99948
HP:0001324	Muscle weakness	54332	GDAP1	ORPHA:99944
HP:0001324	Muscle weakness	54332	GDAP1	OMIM:214400
HP:0001324	Muscle weakness	56704	JPH1	OMIM:607831
HP:0001324	Muscle weakness	101060691	NUTM2B-AS1	OMIM:618637
HP:0001324	Muscle weakness	10908	PNPLA6	OMIM:275400
HP:0001324	Muscle weakness	3508	IGHMBP2	OMIM:604320
HP:0001324	Muscle weakness	81846	SBF2	OMIM:604563
HP:0001324	Muscle weakness	1890	TYMP	ORPHA:298
HP:0001324	Muscle weakness	1890	TYMP	OMIM:603041
HP:0001324	Muscle weakness	3980	LIG3	ORPHA:298
HP:0001324	Muscle weakness	729359	PLIN4	OMIM:601846
HP:0001324	Muscle weakness	2892	GRIA3	OMIM:300699
HP:0001324	Muscle weakness	2892	GRIA3	ORPHA:364028
HP:0001324	Muscle weakness	57449	PLEKHG5	OMIM:615376
HP:0001324	Muscle weakness	57449	PLEKHG5	OMIM:611067
HP:0001324	Muscle weakness	274	BIN1	OMIM:255200
HP:0001324	Muscle weakness	4604	MYBPC1	OMIM:618524
HP:0001324	Muscle weakness	7920	ABHD16A	OMIM:619735
HP:0001324	Muscle weakness	10939	AFG3L2	ORPHA:313772
HP:0001324	Muscle weakness	51651	PTRH2	ORPHA:456312
HP:0001324	Muscle weakness	51651	PTRH2	OMIM:616263
HP:0001324	Muscle weakness	65998	ZFTA	ORPHA:251636
HP:0001324	Muscle weakness	23230	VPS13A	ORPHA:2388
HP:0001324	Muscle weakness	9896	FIG4	OMIM:611228
HP:0001324	Muscle weakness	9927	MFN2	OMIM:601152
HP:0001324	Muscle weakness	9927	MFN2	OMIM:609260
HP:0001324	Muscle weakness	59341	TRPV4	OMIM:600175
HP:0001324	Muscle weakness	60481	ELOVL5	OMIM:615957
HP:0001324	Muscle weakness	60481	ELOVL5	ORPHA:423296
HP:0001324	Muscle weakness	8898	MTMR2	OMIM:601382
HP:0001324	Muscle weakness	23095	KIF1B	OMIM:118210
HP:0001324	Muscle weakness	11261	CHP1	OMIM:618438
HP:0001324	Muscle weakness	8565	YARS1	OMIM:608323
HP:0001324	Muscle weakness	19	ABCA1	ORPHA:31150
HP:0001324	Muscle weakness	3178	HNRNPA1	ORPHA:52430
HP:0001324	Muscle weakness	3178	HNRNPA1	OMIM:610099
HP:0001324	Muscle weakness	5981	RFC1	ORPHA:504476
HP:0001324	Muscle weakness	3300	DNAJB2	OMIM:614881
HP:0001324	Muscle weakness	6709	SPTAN1	OMIM:620528
HP:0001324	Muscle weakness	7317	UBA1	ORPHA:1145
HP:0001324	Muscle weakness	26353	HSPB8	OMIM:608673
HP:0001324	Muscle weakness	26353	HSPB8	OMIM:158590
HP:0001324	Muscle weakness	79628	SH3TC2	OMIM:601596
HP:0001324	Muscle weakness	79628	SH3TC2	ORPHA:99949
HP:0001324	Muscle weakness	10397	NDRG1	ORPHA:99950
HP:0001324	Muscle weakness	10397	NDRG1	OMIM:601455
HP:0001324	Muscle weakness	9217	VAPB	OMIM:182980
HP:0001324	Muscle weakness	9217	VAPB	OMIM:608627
HP:0001324	Muscle weakness	57716	PRX	OMIM:614895
HP:0001324	Muscle weakness	57716	PRX	OMIM:145900
HP:0001324	Muscle weakness	57410	SCYL1	OMIM:616719
HP:0001324	Muscle weakness	23534	TNPO3	OMIM:608423
HP:0001324	Muscle weakness	23064	SETX	OMIM:606002
HP:0001324	Muscle weakness	23064	SETX	OMIM:602433
HP:0001324	Muscle weakness	23064	SETX	ORPHA:357043
HP:0001324	Muscle weakness	1959	EGR2	OMIM:145900
HP:0001324	Muscle weakness	1959	EGR2	OMIM:607678
HP:0001324	Muscle weakness	1959	EGR2	OMIM:605253
HP:0001324	Muscle weakness	389827	MYMK	OMIM:254940
HP:0001324	Muscle weakness	8729	GBF1	OMIM:606483
HP:0001324	Muscle weakness	353116	RILPL1	OMIM:619790
HP:0001324	Muscle weakness	4141	MARS1	OMIM:616280
HP:0001324	Muscle weakness	3315	HSPB1	OMIM:606595
HP:0001324	Muscle weakness	10516	FBLN5	OMIM:608895
HP:0001324	Muscle weakness	55187	VPS13D	OMIM:607317
HP:0001324	Muscle weakness	90678	LRSAM1	OMIM:614436
HP:0001324	Muscle weakness	8888	MCM3AP	OMIM:618124
HP:0001324	Muscle weakness	182	JAG1	OMIM:619574
HP:0001324	Muscle weakness	3035	HARS1	OMIM:616625
HP:0001324	Muscle weakness	2705	GJB1	OMIM:302800
HP:0001324	Muscle weakness	64423	INF2	OMIM:614455
HP:0001324	Muscle weakness	89874	SLC25A21	OMIM:618811
HP:0001324	Muscle weakness	9531	BAG3	OMIM:612954
HP:0001324	Muscle weakness	28982	FLVCR1	OMIM:609033
HP:0001324	Muscle weakness	81857	MED25	OMIM:605589
HP:0001324	Muscle weakness	65260	COA7	OMIM:618387
HP:0001324	Muscle weakness	1778	DYNC1H1	OMIM:614228
HP:0001324	Muscle weakness	4287	ATXN3	ORPHA:276244
HP:0001324	Muscle weakness	476	ATP1A1	OMIM:618036
HP:0001324	Muscle weakness	5375	PMP2	OMIM:618279
HP:0001324	Muscle weakness	1786	DNMT1	OMIM:614116
HP:0001324	Muscle weakness	93587	TRMT10A	ORPHA:391408
HP:0001324	Muscle weakness	84919	PPP1R15B	ORPHA:391408
HP:0001324	Muscle weakness	3710	ITPR3	OMIM:620111
HP:0001324	Muscle weakness	9516	LITAF	OMIM:601098
HP:0001324	Muscle weakness	1716	DGUOK	OMIM:617070
HP:0001324	Muscle weakness	7515	XRCC1	OMIM:617633
HP:0001324	Muscle weakness	283	ANG	OMIM:611895
HP:0001324	Muscle weakness	79784	MYH14	OMIM:614369
HP:0001324	Muscle weakness	8139	GAN	ORPHA:643
HP:0001324	Muscle weakness	8139	GAN	OMIM:256850
HP:0001324	Muscle weakness	26580	BSCL2	OMIM:270685
HP:0001324	Muscle weakness	1371	CPOX	ORPHA:79273
HP:0001324	Muscle weakness	65055	REEP1	OMIM:620011
HP:0001324	Muscle weakness	50846	DHH	ORPHA:168563
HP:0001324	Muscle weakness	2643	GCH1	ORPHA:98808
HP:0001324	Muscle weakness	4929	NR4A2	ORPHA:98808
HP:0001324	Muscle weakness	3615	IMPDH2	ORPHA:98808
HP:0001324	Muscle weakness	6834	SURF1	OMIM:220110
HP:0001324	Muscle weakness	51244	CCDC174	OMIM:616816
HP:0001324	Muscle weakness	8803	SUCLA2	OMIM:612073
HP:0001324	Muscle weakness	55670	PEX26	ORPHA:772
HP:0001324	Muscle weakness	5824	PEX19	ORPHA:772
HP:0001324	Muscle weakness	5828	PEX2	ORPHA:772
HP:0001324	Muscle weakness	8504	PEX3	ORPHA:772
HP:0001324	Muscle weakness	9409	PEX16	ORPHA:772
HP:0001324	Muscle weakness	5190	PEX6	ORPHA:772
HP:0001324	Muscle weakness	5189	PEX1	ORPHA:772
HP:0001324	Muscle weakness	5193	PEX12	ORPHA:772
HP:0001324	Muscle weakness	5195	PEX14	ORPHA:772
HP:0001324	Muscle weakness	5192	PEX10	ORPHA:772
HP:0001324	Muscle weakness	64374	SIL1	OMIM:248800
HP:0001324	Muscle weakness	27235	COQ2	OMIM:607426
HP:0001324	Muscle weakness	203859	ANO5	ORPHA:399096
HP:0001324	Muscle weakness	9453	GGPS1	OMIM:619518
HP:0001324	Muscle weakness	22845	DOLK	ORPHA:91131
HP:0001324	Muscle weakness	22947	DUX4L1	ORPHA:269
HP:0001324	Muscle weakness	1789	DNMT3B	ORPHA:269
HP:0001324	Muscle weakness	2483	FRG1	ORPHA:269
HP:0001324	Muscle weakness	23347	SMCHD1	ORPHA:269
HP:0001324	Muscle weakness	100288687	DUX4	ORPHA:269
HP:0001324	Muscle weakness	5256	PHKA2	ORPHA:264580
HP:0001324	Muscle weakness	5261	PHKG2	ORPHA:264580
HP:0001324	Muscle weakness	125170	MIEF2	OMIM:619024
HP:0001324	Muscle weakness	11232	POLG2	OMIM:610131
HP:0001324	Muscle weakness	93627	TBCK	ORPHA:488632
HP:0001324	Muscle weakness	5260	PHKG1	ORPHA:715
HP:0001324	Muscle weakness	8425	LTBP4	ORPHA:98896
HP:0001324	Muscle weakness	11155	LDB3	OMIM:609452
HP:0001324	Muscle weakness	3064	HTT	ORPHA:399
HP:0001324	Muscle weakness	6515	SLC2A3	ORPHA:399
HP:0001324	Muscle weakness	84334	COA8	ORPHA:436271
HP:0001324	Muscle weakness	5339	PLEC	ORPHA:254361
HP:0001324	Muscle weakness	5339	PLEC	OMIM:613723
HP:0001324	Muscle weakness	825	CAPN3	ORPHA:267
HP:0001324	Muscle weakness	486	FXYD2	OMIM:154020
HP:0001324	Muscle weakness	267010	RNU12	OMIM:620208
HP:0001324	Muscle weakness	6557	SLC12A1	OMIM:601678
HP:0001324	Muscle weakness	5903	RANBP2	ORPHA:88619
HP:0001324	Muscle weakness	3758	KCNJ1	OMIM:241200
HP:0001324	Muscle weakness	10058	ABCB6	OMIM:609153
HP:0001324	Muscle weakness	25953	PNKD	ORPHA:98810
HP:0001324	Muscle weakness	595	CCND1	ORPHA:29073
HP:0001324	Muscle weakness	4221	MEN1	ORPHA:97279
HP:0001324	Muscle weakness	7528	YY1	ORPHA:97279
HP:0001324	Muscle weakness	23556	PIGN	ORPHA:280633
HP:0001324	Muscle weakness	200205	IBA57	OMIM:615330
HP:0001324	Muscle weakness	25978	CHMP2B	ORPHA:803
HP:0001324	Muscle weakness	8148	TAF15	ORPHA:803
HP:0001324	Muscle weakness	5445	PON2	ORPHA:803
HP:0001324	Muscle weakness	55830	GLT8D1	ORPHA:803
HP:0001324	Muscle weakness	755	CFAP410	ORPHA:803
HP:0001324	Muscle weakness	10891	PPARGC1A	ORPHA:803
HP:0001324	Muscle weakness	5444	PON1	ORPHA:803
HP:0001324	Muscle weakness	5446	PON3	ORPHA:803
HP:0001324	Muscle weakness	54209	TREM2	ORPHA:803
HP:0001324	Muscle weakness	29978	UBQLN2	ORPHA:803
HP:0001324	Muscle weakness	2733	GLE1	ORPHA:803
HP:0001324	Muscle weakness	4750	NEK1	ORPHA:803
HP:0001324	Muscle weakness	6311	ATXN2	ORPHA:803
HP:0001324	Muscle weakness	1610	DAO	ORPHA:803
HP:0001324	Muscle weakness	2066	ERBB4	ORPHA:803
HP:0001324	Muscle weakness	311	ANXA11	ORPHA:803
HP:0001324	Muscle weakness	23025	UNC13A	ORPHA:803
HP:0001324	Muscle weakness	8398	PLA2G6	OMIM:256600
HP:0001324	Muscle weakness	6442	SGCA	OMIM:608099
HP:0001324	Muscle weakness	4507	MTAP	OMIM:112250
HP:0001324	Muscle weakness	11149	POPDC1	OMIM:616812
HP:0001324	Muscle weakness	6443	SGCB	OMIM:604286
HP:0001324	Muscle weakness	4976	OPA1	ORPHA:1215
HP:0001324	Muscle weakness	146862	UNC45B	OMIM:619178
HP:0001324	Muscle weakness	6240	RRM1	OMIM:620647
HP:0001324	Muscle weakness	7555	CNBP	ORPHA:606
HP:0001324	Muscle weakness	4151	MB	OMIM:620286
HP:0001324	Muscle weakness	4568	MT-TL2	ORPHA:663
HP:0001324	Muscle weakness	4570	MT-TN	ORPHA:663
HP:0001324	Muscle weakness	24142	NAA80	OMIM:620830
HP:0001324	Muscle weakness	3156	HMGCR	OMIM:620375
HP:0001324	Muscle weakness	10073	SNUPN	OMIM:620793
HP:0001324	Muscle weakness	6901	TAFAZZIN	OMIM:302060
HP:0001324	Muscle weakness	27145	FILIP1	OMIM:620775
HP:0001324	Muscle weakness	34	ACADM	ORPHA:42
HP:0001324	Muscle weakness	6786	STIM1	ORPHA:2593
HP:0001324	Muscle weakness	2767	GNA11	ORPHA:428
HP:0001324	Muscle weakness	846	CASR	ORPHA:428
HP:0001324	Muscle weakness	10568	SLC34A2	ORPHA:60025
HP:0001324	Muscle weakness	9420	CYP7B1	ORPHA:100986
HP:0001324	Muscle weakness	9420	CYP7B1	OMIM:270800
HP:0001324	Muscle weakness	8566	PDXK	OMIM:618511
HP:0001324	Muscle weakness	5456	POU3F4	ORPHA:1435
HP:0001324	Muscle weakness	23636	NUP62	ORPHA:225154
HP:0001324	Muscle weakness	53371	NUP54	ORPHA:225154
HP:0001324	Muscle weakness	103	ADAR	ORPHA:225154
HP:0001324	Muscle weakness	55681	SCYL2	ORPHA:1143
HP:0001324	Muscle weakness	84570	COL25A1	ORPHA:1143
HP:0001324	Muscle weakness	57222	ERGIC1	ORPHA:1143
HP:0001324	Muscle weakness	23111	SPART	ORPHA:101000
HP:0001324	Muscle weakness	3798	KIF5A	OMIM:604187
HP:0001324	Muscle weakness	9987	HNRNPDL	OMIM:609115
HP:0001324	Muscle weakness	2670	GFAP	ORPHA:363722
HP:0001324	Muscle weakness	5264	PHYH	OMIM:266500
HP:0001324	Muscle weakness	540	ATP7B	OMIM:277900
HP:0001324	Muscle weakness	272	AMPD3	ORPHA:45
HP:0001324	Muscle weakness	51	ACOX1	OMIM:618960
HP:0001324	Muscle weakness	966	CD59	OMIM:612300
HP:0001324	Muscle weakness	686	BTD	ORPHA:79241
HP:0001324	Muscle weakness	57704	GBA2	OMIM:614409
HP:0001324	Muscle weakness	54808	DYM	ORPHA:239
HP:0001324	Muscle weakness	91452	ACBD5	OMIM:618863
HP:0001324	Muscle weakness	9853	RUSC2	OMIM:617773
HP:0001324	Muscle weakness	80308	FLAD1	OMIM:255100
HP:0001324	Muscle weakness	60684	TRAPPC11	OMIM:615356
HP:0001324	Muscle weakness	60684	TRAPPC11	ORPHA:369840
HP:0001324	Muscle weakness	10973	ASCC3	OMIM:620700
HP:0001324	Muscle weakness	56997	COQ8A	ORPHA:139485
HP:0001324	Muscle weakness	56997	COQ8A	OMIM:612016
HP:0001324	Muscle weakness	6444	SGCD	OMIM:601287
HP:0001324	Muscle weakness	22954	TRIM32	OMIM:254110
HP:0001324	Muscle weakness	10367	MICU1	ORPHA:401768
HP:0001324	Muscle weakness	10367	MICU1	OMIM:615673
HP:0001324	Muscle weakness	7156	TOP3A	OMIM:618098
HP:0001324	Muscle weakness	284439	SLC25A42	OMIM:618416
HP:0001324	Muscle weakness	5566	PRKACA	OMIM:615830
HP:0001324	Muscle weakness	6607	SMN2	OMIM:253400
HP:0001324	Muscle weakness	79798	ARMC5	ORPHA:189427
HP:0001324	Muscle weakness	23028	KDM1A	ORPHA:189427
HP:0001324	Muscle weakness	2778	GNAS	ORPHA:189427
HP:0001324	Muscle weakness	4076	CAPRIN1	OMIM:620636
HP:0001324	Muscle weakness	4942	OAT	OMIM:258870
HP:0001324	Muscle weakness	126129	CPT1C	OMIM:616282
HP:0001324	Muscle weakness	6263	RYR3	OMIM:620310
HP:0001324	Muscle weakness	427	ASAH1	OMIM:159950
HP:0001324	Muscle weakness	56244	BTNL2	ORPHA:797
HP:0001324	Muscle weakness	84265	POLR3GL	OMIM:619234
HP:0001324	Muscle weakness	8087	FXR1	OMIM:618823
HP:0001324	Muscle weakness	26576	SRPK3	OMIM:301134
HP:0001324	Muscle weakness	10345	TRDN	OMIM:615441
HP:0001324	Muscle weakness	64208	POPDC3	OMIM:618848
HP:0001324	Muscle weakness	81545	FBXO38	OMIM:615575
HP:0001324	Muscle weakness	51763	INPP5K	OMIM:617404
HP:0001324	Muscle weakness	132001	TAMM41	OMIM:620139
HP:0001324	Muscle weakness	90523	MLIP	OMIM:620138
HP:0001324	Muscle weakness	23224	SYNE2	OMIM:612999
HP:0001324	Muscle weakness	50640	PNPLA8	OMIM:251950
HP:0001324	Muscle weakness	6445	SGCG	ORPHA:353
HP:0001324	Muscle weakness	9897	WASHC5	ORPHA:100989
HP:0001324	Muscle weakness	9897	WASHC5	OMIM:603563
HP:0001324	Muscle weakness	6683	SPAST	ORPHA:100985
HP:0001324	Muscle weakness	6683	SPAST	OMIM:182601
HP:0001324	Muscle weakness	5994	RFXAP	OMIM:620817
HP:0001324	Muscle weakness	80821	DDHD1	OMIM:609340
HP:0001324	Muscle weakness	80821	DDHD1	ORPHA:101008
HP:0001324	Muscle weakness	1593	CYP27A1	OMIM:213700
HP:0001324	Muscle weakness	123606	NIPA1	OMIM:600363
HP:0001324	Muscle weakness	81790	RNF170	OMIM:619686
HP:0001324	Muscle weakness	518	ATP5MC3	OMIM:619681
HP:0001324	Muscle weakness	2782	GNB1	OMIM:616973
HP:0001324	Muscle weakness	8891	EIF2B3	OMIM:620313
HP:0001324	Muscle weakness	8892	EIF2B2	OMIM:620312
HP:0001324	Muscle weakness	25778	DSTYK	OMIM:270750
HP:0001324	Muscle weakness	51324	SPG21	OMIM:248900
HP:0001324	Muscle weakness	51324	SPG21	ORPHA:101001
HP:0001324	Muscle weakness	51116	MRPS2	OMIM:617950
HP:0001324	Muscle weakness	9692	PRORP	OMIM:619737
HP:0001324	Muscle weakness	54463	RETREG1	OMIM:613115
HP:0001324	Muscle weakness	5921	RASA1	ORPHA:90307
HP:0001324	Muscle weakness	823	CAPN1	OMIM:616907
HP:0001324	Muscle weakness	823	CAPN1	ORPHA:488594
HP:0001324	Muscle weakness	5297	PI4KA	OMIM:619621
HP:0001324	Muscle weakness	84668	HYCC1	OMIM:610532
HP:0001324	Muscle weakness	9907	AP5Z1	OMIM:613647
HP:0001324	Muscle weakness	9907	AP5Z1	ORPHA:306511
HP:0001324	Muscle weakness	2313	FLI1	ORPHA:370348
HP:0001324	Muscle weakness	3839	KPNA3	OMIM:620106
HP:0001324	Muscle weakness	3839	KPNA3	ORPHA:171612
HP:0001324	Muscle weakness	100134444	KCNJ18	ORPHA:79102
HP:0001324	Muscle weakness	2556	GABRA3	ORPHA:79102
HP:0001324	Muscle weakness	3766	KCNJ10	ORPHA:199343
HP:0001324	Muscle weakness	6253	RTN2	OMIM:604805
HP:0001324	Muscle weakness	6253	RTN2	ORPHA:100993
HP:0001324	Muscle weakness	5165	PDK3	ORPHA:352675
HP:0001324	Muscle weakness	55072	RNF31	OMIM:620632
HP:0001324	Muscle weakness	51271	UBAP1	ORPHA:100993
HP:0001324	Muscle weakness	7143	TNR	OMIM:619653
HP:0001324	Muscle weakness	122622	ADSS1	OMIM:617030
HP:0001324	Muscle weakness	122622	ADSS1	ORPHA:482601
HP:0001324	Muscle weakness	23259	DDHD2	OMIM:615033
HP:0001324	Muscle weakness	8988	HSPB3	OMIM:613376
HP:0001324	Muscle weakness	57863	CADM3	OMIM:619519
HP:0001324	Muscle weakness	64856	VWA1	OMIM:619216
HP:0001324	Muscle weakness	4311	MME	ORPHA:497764
HP:0001324	Muscle weakness	23676	SMPX	OMIM:301075
HP:0001324	Muscle weakness	59345	GNB4	OMIM:615185
HP:0001324	Muscle weakness	6652	SORD	OMIM:618912
HP:0001324	Muscle weakness	7453	WARS1	OMIM:617721
HP:0001324	Muscle weakness	203547	VMA21	OMIM:310440
HP:0001324	Muscle weakness	4618	MYF6	ORPHA:169189
HP:0001324	Muscle weakness	56983	POGLUT1	OMIM:617232
HP:0001324	Muscle weakness	2010	EMD	ORPHA:98863
HP:0001324	Muscle weakness	6497	SKI	OMIM:182212
HP:0001324	Muscle weakness	7421	VDR	OMIM:277440
HP:0001324	Muscle weakness	5605	MAP2K2	ORPHA:638
HP:0001324	Muscle weakness	6905	TBCE	ORPHA:496756
HP:0001324	Muscle weakness	6905	TBCE	OMIM:617207
HP:0001324	Muscle weakness	116228	COX20	OMIM:619054
HP:0001324	Muscle weakness	3735	KARS1	OMIM:613641
HP:0001324	Muscle weakness	2783	GNB2	OMIM:619503
HP:0001324	Muscle weakness	391356	PTRHD1	OMIM:620747
HP:0001324	Muscle weakness	3930	LBR	OMIM:169400
HP:0001324	Muscle weakness	1337	COX6A1	OMIM:616039
HP:0001324	Muscle weakness	2137	EXTL3	ORPHA:508533
HP:0001324	Muscle weakness	3094	HINT1	ORPHA:324442
HP:0001324	Muscle weakness	4137	MAPT	ORPHA:240094
HP:0001324	Muscle weakness	55775	TDP1	ORPHA:94124
HP:0001324	Muscle weakness	79048	SECISBP2	ORPHA:171706
HP:0001324	Muscle weakness	4547	MTTP	ORPHA:14
HP:0001324	Muscle weakness	8557	TCAP	OMIM:601954
HP:0001324	Muscle weakness	547	KIF1A	OMIM:614213
HP:0001324	Muscle weakness	55526	DHTKD1	OMIM:615025
HP:0001324	Muscle weakness	121512	FGD4	OMIM:609311
HP:0001324	Muscle weakness	6305	SBF1	OMIM:615284
HP:0001324	Muscle weakness	7428	VHL	ORPHA:892
HP:0001324	Muscle weakness	11117	EMILIN1	OMIM:620080
HP:0001324	Muscle weakness	55958	KLHL9	ORPHA:399081
HP:0001324	Muscle weakness	11080	DNAJB4	OMIM:620326
HP:0001324	Muscle weakness	89910	UBE3B	ORPHA:2707
HP:0001324	Muscle weakness	1278	COL1A2	ORPHA:1899
HP:0001324	Muscle weakness	50964	SOST	OMIM:269500
HP:0001324	Muscle weakness	50964	SOST	ORPHA:3416
HP:0001324	Muscle weakness	50964	SOST	ORPHA:3152
HP:0001324	Muscle weakness	22827	PUF60	ORPHA:508498
HP:0001324	Muscle weakness	2138	EYA1	OMIM:113650
HP:0001324	Muscle weakness	2138	EYA1	ORPHA:107
HP:0001324	Muscle weakness	2138	EYA1	ORPHA:52429
HP:0001324	Muscle weakness	6495	SIX1	OMIM:113650
HP:0001324	Muscle weakness	6495	SIX1	ORPHA:107
HP:0001324	Muscle weakness	6495	SIX1	ORPHA:52429
HP:0001324	Muscle weakness	56172	ANKH	ORPHA:1522
HP:0001324	Muscle weakness	56172	ANKH	OMIM:123000
HP:0001324	Muscle weakness	10312	TCIRG1	OMIM:259700
HP:0001324	Muscle weakness	57167	SALL4	OMIM:607323
HP:0001324	Muscle weakness	29887	SNX10	OMIM:615085
HP:0001324	Muscle weakness	92667	MGME1	OMIM:615084
HP:0001324	Muscle weakness	29998	BICRA	OMIM:619325
HP:0001324	Muscle weakness	9790	BMS1	ORPHA:1114
HP:0001324	Muscle weakness	10054	UBA2	ORPHA:1114
HP:0001324	Muscle weakness	3691	ITGB4	ORPHA:1114
HP:0001324	Muscle weakness	54567	DLL4	ORPHA:1114
HP:0001324	Muscle weakness	4041	LRP5	ORPHA:3416
HP:0001324	Muscle weakness	4041	LRP5	ORPHA:2790
HP:0001324	Muscle weakness	4041	LRP5	ORPHA:178377
HP:0001324	Muscle weakness	9723	SEMA3E	ORPHA:138
HP:0001324	Muscle weakness	5980	REV3L	ORPHA:570
HP:0001324	Muscle weakness	23129	PLXND1	ORPHA:570
HP:0001324	Muscle weakness	10735	STAG2	OMIM:301022
HP:0001324	Muscle weakness	10381	TUBB3	OMIM:600638
HP:0001324	Muscle weakness	7020	TFAP2A	OMIM:113620
HP:0001324	Muscle weakness	139285	AMER1	ORPHA:2780
HP:0001324	Muscle weakness	139285	AMER1	OMIM:300373
HP:0001324	Muscle weakness	9244	CRLF1	OMIM:272430
HP:0001324	Muscle weakness	84617	TUBB6	OMIM:617732
HP:0001324	Muscle weakness	9791	PTDSS1	ORPHA:2658
HP:0001324	Muscle weakness	8314	BAP1	ORPHA:2495
HP:0001324	Muscle weakness	5155	PDGFB	ORPHA:2495
HP:0001324	Muscle weakness	84231	TRAF7	ORPHA:2495
HP:0001324	Muscle weakness	6608	SMO	ORPHA:2495
HP:0001324	Muscle weakness	207	AKT1	ORPHA:2495
HP:0001324	Muscle weakness	51684	SUFU	ORPHA:2495
HP:0001324	Muscle weakness	6605	SMARCE1	ORPHA:2495
HP:0001324	Muscle weakness	3211	HOXB1	OMIM:614744
HP:0001324	Muscle weakness	8085	KMT2D	OMIM:620186
HP:0001324	Muscle weakness	80704	SLC19A3	OMIM:607483
HP:0001324	Muscle weakness	147912	SIX5	ORPHA:107
HP:0001324	Muscle weakness	23516	SLC39A14	OMIM:144755
HP:0001324	Muscle weakness	1186	CLCN7	OMIM:166600
HP:0001324	Muscle weakness	1186	CLCN7	OMIM:611490
HP:0001324	Muscle weakness	1186	CLCN7	ORPHA:53
HP:0001324	Muscle weakness	84168	ANTXR1	OMIM:230740
HP:0001324	Muscle weakness	64127	NOD2	ORPHA:90340
HP:0001324	Muscle weakness	29089	UBE2T	OMIM:616435
HP:0001324	Muscle weakness	1861	TOR1A	OMIM:128100
HP:0001324	Muscle weakness	1757	SARDH	ORPHA:3129
HP:0001324	Muscle weakness	11198	SUPT16H	OMIM:619480
HP:0001324	Muscle weakness	7516	XRCC2	OMIM:617247
HP:0001324	Muscle weakness	10008	KCNE3	ORPHA:681
HP:0001324	Muscle weakness	51305	KCNK9	ORPHA:166108
HP:0001324	Muscle weakness	9562	MINPP1	ORPHA:284339
HP:0031850	Abnormal hematocrit	669	BPGM	OMIM:222800
HP:0031850	Abnormal hematocrit	10019	SH2B3	OMIM:133100
HP:0031850	Abnormal hematocrit	3717	JAK2	OMIM:133100
HP:0031850	Abnormal hematocrit	3717	JAK2	OMIM:263300
HP:0031850	Abnormal hematocrit	2057	EPOR	OMIM:133100
HP:0031850	Abnormal hematocrit	2034	EPAS1	OMIM:611783
HP:0031850	Abnormal hematocrit	2056	EPO	OMIM:617907
HP:0031850	Abnormal hematocrit	7428	VHL	OMIM:263400
HP:0031850	Abnormal hematocrit	54583	EGLN1	OMIM:609820
HP:0031850	Abnormal hematocrit	3040	HBA2	OMIM:617981
HP:0031850	Abnormal hematocrit	3039	HBA1	OMIM:617981
HP:0031850	Abnormal hematocrit	3043	HBB	OMIM:617980
HP:0031850	Abnormal hematocrit	10661	KLF1	OMIM:613673
HP:0031850	Abnormal hematocrit	150274	HSCB	OMIM:619523
HP:0031851	Reduced hematocrit	10661	KLF1	OMIM:613673
HP:0031851	Reduced hematocrit	150274	HSCB	OMIM:619523
HP:0031853	Isomerism	4838	NODAL	OMIM:270100
HP:0031853	Isomerism	2657	GDF1	OMIM:208530
HP:0031853	Isomerism	55997	CFC1	OMIM:605376
HP:0031853	Isomerism	4087	SMAD2	OMIM:619657
HP:0031853	Isomerism	7547	ZIC3	OMIM:314390
HP:0031853	Isomerism	2187	FANCB	OMIM:314390
HP:0031853	Isomerism	100128908	CIROP	OMIM:619702
HP:0031853	Isomerism	1770	DNAH9	OMIM:618300
HP:0031854	Left Isomerism	55997	CFC1	OMIM:605376
HP:0031854	Left Isomerism	100128908	CIROP	OMIM:619702
HP:0031854	Left Isomerism	1770	DNAH9	OMIM:618300
HP:0031855	Right isomerism	7547	ZIC3	OMIM:306955
HP:0031855	Right isomerism	4838	NODAL	OMIM:270100
HP:0031855	Right isomerism	2657	GDF1	OMIM:208530
HP:0031857	Ineffective esophageal peristalsis	54809	SAMD9	OMIM:617053
HP:0031857	Ineffective esophageal peristalsis	2982	GUCY1A1	OMIM:615750
HP:0031857	Ineffective esophageal peristalsis	55699	IARS2	OMIM:616007
HP:0031857	Ineffective esophageal peristalsis	55699	IARS2	ORPHA:436174
HP:0031857	Ineffective esophageal peristalsis	6774	STAT3	OMIM:615952
HP:0031857	Ineffective esophageal peristalsis	10625	IVNS1ABP	OMIM:618969
HP:0031857	Ineffective esophageal peristalsis	29926	GMPPA	OMIM:615510
HP:0031857	Ineffective esophageal peristalsis	29926	GMPPA	ORPHA:869
HP:0031857	Ineffective esophageal peristalsis	60684	TRAPPC11	OMIM:615356
HP:0031857	Ineffective esophageal peristalsis	60684	TRAPPC11	ORPHA:869
HP:0031857	Ineffective esophageal peristalsis	8086	AAAS	ORPHA:869
HP:0031857	Ineffective esophageal peristalsis	8086	AAAS	OMIM:231550
HP:0031857	Ineffective esophageal peristalsis	2717	GLA	ORPHA:324
HP:0031857	Ineffective esophageal peristalsis	60	ACTB	ORPHA:79107
HP:0031857	Ineffective esophageal peristalsis	60	ACTB	OMIM:607371
HP:0031857	Ineffective esophageal peristalsis	4212	MEIS2	OMIM:600987
HP:0031857	Ineffective esophageal peristalsis	56246	MRAP	OMIM:607398
HP:0031857	Ineffective esophageal peristalsis	28982	FLVCR1	OMIM:609033
HP:0031857	Ineffective esophageal peristalsis	1288	COL4A6	ORPHA:1018
HP:0031857	Ineffective esophageal peristalsis	1287	COL4A5	ORPHA:1018
HP:0031857	Ineffective esophageal peristalsis	283446	MYO1H	OMIM:619482
HP:0031857	Ineffective esophageal peristalsis	4629	MYH11	OMIM:619350
HP:0031857	Ineffective esophageal peristalsis	8929	PHOX2B	OMIM:209880
HP:0031858	Esophageal furrows	6774	STAT3	OMIM:147060
HP:0002751	Kyphoscoliosis	6399	TRAPPC2	ORPHA:93284
HP:0002751	Kyphoscoliosis	9131	AIFM1	OMIM:300232
HP:0002751	Kyphoscoliosis	6834	SURF1	OMIM:616684
HP:0002751	Kyphoscoliosis	8838	CCN6	OMIM:208230
HP:0002751	Kyphoscoliosis	11284	PNKP	ORPHA:459033
HP:0002751	Kyphoscoliosis	3008	H1-4	OMIM:617537
HP:0002751	Kyphoscoliosis	1788	DNMT3A	ORPHA:404443
HP:0002751	Kyphoscoliosis	7138	TNNT1	OMIM:620386
HP:0002751	Kyphoscoliosis	5376	PMP22	OMIM:180800
HP:0002751	Kyphoscoliosis	5376	PMP22	ORPHA:3115
HP:0002751	Kyphoscoliosis	5376	PMP22	ORPHA:101081
HP:0002751	Kyphoscoliosis	5376	PMP22	OMIM:118220
HP:0002751	Kyphoscoliosis	5376	PMP22	OMIM:145900
HP:0002751	Kyphoscoliosis	4359	MPZ	OMIM:180800
HP:0002751	Kyphoscoliosis	4359	MPZ	ORPHA:3115
HP:0002751	Kyphoscoliosis	4359	MPZ	OMIM:118200
HP:0002751	Kyphoscoliosis	4359	MPZ	OMIM:145900
HP:0002751	Kyphoscoliosis	79581	SLC52A2	OMIM:614707
HP:0002751	Kyphoscoliosis	9401	RECQL4	OMIM:268400
HP:0002751	Kyphoscoliosis	4784	NFIX	ORPHA:447980
HP:0002751	Kyphoscoliosis	4784	NFIX	OMIM:602535
HP:0002751	Kyphoscoliosis	54332	GDAP1	OMIM:607831
HP:0002751	Kyphoscoliosis	54332	GDAP1	OMIM:214400
HP:0002751	Kyphoscoliosis	56704	JPH1	OMIM:607831
HP:0002751	Kyphoscoliosis	1278	COL1A2	ORPHA:230851
HP:0002751	Kyphoscoliosis	65993	MRPS34	OMIM:617664
HP:0002751	Kyphoscoliosis	1855	DVL1	OMIM:616331
HP:0002751	Kyphoscoliosis	64412	GZF1	OMIM:617662
HP:0002751	Kyphoscoliosis	2137	EXTL3	OMIM:617425
HP:0002751	Kyphoscoliosis	2201	FBN2	OMIM:121050
HP:0002751	Kyphoscoliosis	3149	HMGB3	OMIM:300915
HP:0002751	Kyphoscoliosis	10847	SRCAP	ORPHA:2044
HP:0002751	Kyphoscoliosis	10847	SRCAP	OMIM:136140
HP:0002751	Kyphoscoliosis	6662	SOX9	OMIM:114290
HP:0002751	Kyphoscoliosis	10978	CLP1	OMIM:615803
HP:0002751	Kyphoscoliosis	81846	SBF2	OMIM:604563
HP:0002751	Kyphoscoliosis	81846	SBF2	ORPHA:99956
HP:0002751	Kyphoscoliosis	9382	COG1	OMIM:611209
HP:0002751	Kyphoscoliosis	9382	COG1	ORPHA:263508
HP:0002751	Kyphoscoliosis	57231	SNX14	ORPHA:397709
HP:0002751	Kyphoscoliosis	57231	SNX14	OMIM:616354
HP:0002751	Kyphoscoliosis	1763	DNA2	OMIM:615807
HP:0002751	Kyphoscoliosis	54	ACP5	OMIM:607944
HP:0002751	Kyphoscoliosis	1280	COL2A1	OMIM:616583
HP:0002751	Kyphoscoliosis	1280	COL2A1	ORPHA:85198
HP:0002751	Kyphoscoliosis	1280	COL2A1	ORPHA:93316
HP:0002751	Kyphoscoliosis	9469	CHST3	OMIM:143095
HP:0002751	Kyphoscoliosis	9469	CHST3	ORPHA:263463
HP:0002751	Kyphoscoliosis	113189	CHST14	ORPHA:2953
HP:0002751	Kyphoscoliosis	29940	DSE	ORPHA:2953
HP:0002751	Kyphoscoliosis	23545	ATP6V0A2	ORPHA:2834
HP:0002751	Kyphoscoliosis	4853	NOTCH2	OMIM:102500
HP:0002751	Kyphoscoliosis	10381	TUBB3	ORPHA:300570
HP:0002751	Kyphoscoliosis	23184	MESD	OMIM:618644
HP:0002751	Kyphoscoliosis	55858	TMEM165	OMIM:614727
HP:0002751	Kyphoscoliosis	5191	PEX7	OMIM:215100
HP:0002751	Kyphoscoliosis	57190	SELENON	ORPHA:2020
HP:0002751	Kyphoscoliosis	58	ACTA1	ORPHA:2020
HP:0002751	Kyphoscoliosis	4633	MYL2	ORPHA:2020
HP:0002751	Kyphoscoliosis	3679	ITGA7	ORPHA:2020
HP:0002751	Kyphoscoliosis	7169	TPM2	ORPHA:2020
HP:0002751	Kyphoscoliosis	7169	TPM2	OMIM:609285
HP:0002751	Kyphoscoliosis	9200	HACD1	ORPHA:2020
HP:0002751	Kyphoscoliosis	7170	TPM3	ORPHA:2020
HP:0002751	Kyphoscoliosis	51776	MAP3K20	ORPHA:2020
HP:0002751	Kyphoscoliosis	4763	NF1	ORPHA:363700
HP:0002751	Kyphoscoliosis	1303	COL12A1	OMIM:616470
HP:0002751	Kyphoscoliosis	1303	COL12A1	ORPHA:536516
HP:0002751	Kyphoscoliosis	1193	CLIC2	ORPHA:324410
HP:0002751	Kyphoscoliosis	1293	COL6A3	OMIM:620728
HP:0002751	Kyphoscoliosis	10682	EBP	ORPHA:35173
HP:0002751	Kyphoscoliosis	10682	EBP	OMIM:302960
HP:0002751	Kyphoscoliosis	60	ACTB	OMIM:607371
HP:0002751	Kyphoscoliosis	649	BMP1	OMIM:614856
HP:0002751	Kyphoscoliosis	4598	MVK	OMIM:610377
HP:0002751	Kyphoscoliosis	165	AEBP1	ORPHA:536532
HP:0002751	Kyphoscoliosis	2074	ERCC6	OMIM:214150
HP:0002751	Kyphoscoliosis	6261	RYR1	ORPHA:597
HP:0002751	Kyphoscoliosis	6261	RYR1	OMIM:619542
HP:0002751	Kyphoscoliosis	5654	HTRA1	ORPHA:199354
HP:0002751	Kyphoscoliosis	59341	TRPV4	OMIM:184252
HP:0002751	Kyphoscoliosis	59341	TRPV4	OMIM:156530
HP:0002751	Kyphoscoliosis	59341	TRPV4	ORPHA:93304
HP:0002751	Kyphoscoliosis	59341	TRPV4	OMIM:184095
HP:0002751	Kyphoscoliosis	55131	RBM28	ORPHA:157954
HP:0002751	Kyphoscoliosis	55131	RBM28	OMIM:612079
HP:0002751	Kyphoscoliosis	54880	BCOR	OMIM:309800
HP:0002751	Kyphoscoliosis	8260	NAA10	OMIM:309800
HP:0002751	Kyphoscoliosis	63895	PIEZO2	OMIM:114300
HP:0002751	Kyphoscoliosis	9255	AIMP1	OMIM:260600
HP:0002751	Kyphoscoliosis	4893	NRAS	OMIM:163200
HP:0002751	Kyphoscoliosis	3845	KRAS	OMIM:163200
HP:0002751	Kyphoscoliosis	3265	HRAS	OMIM:163200
HP:0002751	Kyphoscoliosis	6506	SLC1A2	OMIM:617105
HP:0002751	Kyphoscoliosis	84919	PPP1R15B	OMIM:616817
HP:0002751	Kyphoscoliosis	84919	PPP1R15B	ORPHA:391408
HP:0002751	Kyphoscoliosis	388015	RTL1	ORPHA:96334
HP:0002751	Kyphoscoliosis	8788	DLK1	ORPHA:96334
HP:0002751	Kyphoscoliosis	55384	MEG3	ORPHA:96334
HP:0002751	Kyphoscoliosis	2316	FLNA	OMIM:304120
HP:0002751	Kyphoscoliosis	2316	FLNA	OMIM:309350
HP:0002751	Kyphoscoliosis	2006	ELN	OMIM:194050
HP:0002751	Kyphoscoliosis	51085	MLXIPL	OMIM:194050
HP:0002751	Kyphoscoliosis	10667	FARS2	ORPHA:466722
HP:0002751	Kyphoscoliosis	11128	POLR3A	ORPHA:3455
HP:0002751	Kyphoscoliosis	10430	TMEM147	OMIM:620075
HP:0002751	Kyphoscoliosis	5373	PMM2	ORPHA:79318
HP:0002751	Kyphoscoliosis	339855	KY	ORPHA:496689
HP:0002751	Kyphoscoliosis	9147	NEMF	OMIM:619099
HP:0002751	Kyphoscoliosis	546	ATRX	OMIM:309580
HP:0002751	Kyphoscoliosis	546	ATRX	OMIM:301040
HP:0002751	Kyphoscoliosis	6611	SMS	OMIM:309583
HP:0002751	Kyphoscoliosis	6611	SMS	ORPHA:3063
HP:0002751	Kyphoscoliosis	7317	UBA1	ORPHA:1145
HP:0002751	Kyphoscoliosis	3339	HSPG2	OMIM:255800
HP:0002751	Kyphoscoliosis	60681	FKBP10	OMIM:610968
HP:0002751	Kyphoscoliosis	79158	GNPTAB	ORPHA:423461
HP:0002751	Kyphoscoliosis	4313	MMP2	OMIM:259600
HP:0002751	Kyphoscoliosis	6567	SLC16A2	ORPHA:59
HP:0002751	Kyphoscoliosis	5832	ALDH18A1	ORPHA:447760
HP:0002751	Kyphoscoliosis	10397	NDRG1	ORPHA:99950
HP:0002751	Kyphoscoliosis	10397	NDRG1	OMIM:601455
HP:0002751	Kyphoscoliosis	5781	PTPN11	OMIM:151100
HP:0002751	Kyphoscoliosis	5781	PTPN11	OMIM:163950
HP:0002751	Kyphoscoliosis	91252	SLC39A13	OMIM:612350
HP:0002751	Kyphoscoliosis	9894	TELO2	OMIM:616954
HP:0002751	Kyphoscoliosis	9894	TELO2	ORPHA:488642
HP:0002751	Kyphoscoliosis	2744	GLS	OMIM:618339
HP:0002751	Kyphoscoliosis	196528	ARID2	OMIM:617808
HP:0002751	Kyphoscoliosis	1959	EGR2	OMIM:145900
HP:0002751	Kyphoscoliosis	57716	PRX	OMIM:145900
HP:0002751	Kyphoscoliosis	78987	CRELD1	OMIM:620771
HP:0002751	Kyphoscoliosis	23111	SPART	OMIM:275900
HP:0002751	Kyphoscoliosis	5351	PLOD1	OMIM:225400
HP:0002751	Kyphoscoliosis	579	NKX3-2	OMIM:613330
HP:0002751	Kyphoscoliosis	57122	NUP107	OMIM:618348
HP:0002751	Kyphoscoliosis	50814	NSDHL	ORPHA:251383
HP:0002751	Kyphoscoliosis	411	ARSB	OMIM:253200
HP:0002751	Kyphoscoliosis	9150	CTDP1	OMIM:604168
HP:0002751	Kyphoscoliosis	4722	NDUFS3	OMIM:618230
HP:0002751	Kyphoscoliosis	55033	FKBP14	OMIM:614557
HP:0002751	Kyphoscoliosis	55033	FKBP14	ORPHA:300179
HP:0002751	Kyphoscoliosis	4041	LRP5	OMIM:259770
HP:0002751	Kyphoscoliosis	3736	KCNA1	ORPHA:37612
HP:0002751	Kyphoscoliosis	2068	ERCC2	OMIM:610756
HP:0002751	Kyphoscoliosis	145873	MESP2	OMIM:277300
HP:0002751	Kyphoscoliosis	10683	DLL3	OMIM:277300
HP:0002751	Kyphoscoliosis	2067	ERCC1	OMIM:610758
HP:0002751	Kyphoscoliosis	4204	MECP2	OMIM:300055
HP:0002751	Kyphoscoliosis	4204	MECP2	ORPHA:3077
HP:0002751	Kyphoscoliosis	8925	HERC1	ORPHA:457359
HP:0002751	Kyphoscoliosis	4621	MYH3	OMIM:193700
HP:0002751	Kyphoscoliosis	22930	RAB3GAP1	OMIM:600118
HP:0002751	Kyphoscoliosis	2530	FUT8	OMIM:618005
HP:0002751	Kyphoscoliosis	2200	FBN1	OMIM:154700
HP:0002751	Kyphoscoliosis	84068	SLC10A7	OMIM:618363
HP:0002751	Kyphoscoliosis	23345	SYNE1	OMIM:618484
HP:0002751	Kyphoscoliosis	182	JAG1	OMIM:619574
HP:0002751	Kyphoscoliosis	7965	AIMP2	OMIM:618006
HP:0002751	Kyphoscoliosis	92344	GORAB	OMIM:231070
HP:0002751	Kyphoscoliosis	6678	SPARC	OMIM:616507
HP:0002751	Kyphoscoliosis	25778	DSTYK	ORPHA:101003
HP:0002751	Kyphoscoliosis	4547	MTTP	ORPHA:14
HP:0002751	Kyphoscoliosis	80185	TTI2	OMIM:615541
HP:0002751	Kyphoscoliosis	80185	TTI2	ORPHA:391307
HP:0002751	Kyphoscoliosis	84896	ATAD1	OMIM:618011
HP:0002751	Kyphoscoliosis	51715	RAB23	ORPHA:65759
HP:0002751	Kyphoscoliosis	1954	MEGF8	ORPHA:65759
HP:0002751	Kyphoscoliosis	79147	FKRP	ORPHA:370980
HP:0002751	Kyphoscoliosis	2218	FKTN	ORPHA:370980
HP:0002751	Kyphoscoliosis	729920	CRPPA	ORPHA:370980
HP:0002751	Kyphoscoliosis	10585	POMT1	ORPHA:370980
HP:0002751	Kyphoscoliosis	9244	CRLF1	OMIM:272430
HP:0002751	Kyphoscoliosis	26040	SETBP1	ORPHA:798
HP:0002751	Kyphoscoliosis	5727	PTCH1	OMIM:109400
HP:0002751	Kyphoscoliosis	11285	B4GALT7	ORPHA:75496
HP:0002751	Kyphoscoliosis	3835	KIF22	ORPHA:93360
HP:0002751	Kyphoscoliosis	4000	LMNA	OMIM:605588
HP:0002751	Kyphoscoliosis	1861	TOR1A	OMIM:618947
HP:0002751	Kyphoscoliosis	22931	RAB18	OMIM:614222
HP:0002751	Kyphoscoliosis	4659	PPP1R12A	OMIM:618820
HP:0002751	Kyphoscoliosis	10382	TUBB4A	ORPHA:98805
HP:0002751	Kyphoscoliosis	56270	WDR45B	OMIM:617977
HP:0002751	Kyphoscoliosis	9060	PAPSS2	OMIM:612847
HP:0002751	Kyphoscoliosis	4796	TONSL	ORPHA:93357
HP:0002751	Kyphoscoliosis	4796	TONSL	OMIM:271510
HP:0002751	Kyphoscoliosis	1836	SLC26A2	OMIM:222600
HP:0002751	Kyphoscoliosis	285590	SH3PXD2B	OMIM:249420
HP:0002751	Kyphoscoliosis	4841	NONO	OMIM:300967
HP:0002751	Kyphoscoliosis	4841	NONO	ORPHA:466791
HP:0002751	Kyphoscoliosis	6197	RPS6KA3	OMIM:300844
HP:0002751	Kyphoscoliosis	207	AKT1	OMIM:176920
HP:0002751	Kyphoscoliosis	60482	SLC5A7	ORPHA:98914
HP:0002751	Kyphoscoliosis	4649	MYO9A	ORPHA:98914
HP:0002751	Kyphoscoliosis	1305	COL13A1	ORPHA:98914
HP:0002751	Kyphoscoliosis	1103	CHAT	ORPHA:98914
HP:0002751	Kyphoscoliosis	6576	SLC25A1	ORPHA:98914
HP:0002751	Kyphoscoliosis	6843	VAMP1	ORPHA:98914
HP:0002751	Kyphoscoliosis	375790	AGRN	ORPHA:98914
HP:0002751	Kyphoscoliosis	127833	SYT2	ORPHA:98914
HP:0002751	Kyphoscoliosis	6572	SLC18A3	ORPHA:98914
HP:0002751	Kyphoscoliosis	6616	SNAP25	ORPHA:98914
HP:0002751	Kyphoscoliosis	55717	WDR11	OMIM:620237
HP:0002751	Kyphoscoliosis	93587	TRMT10A	ORPHA:391408
HP:0002751	Kyphoscoliosis	2273	FHL1	OMIM:300280
HP:0002751	Kyphoscoliosis	126792	B3GALT6	OMIM:271640
HP:0002751	Kyphoscoliosis	126792	B3GALT6	ORPHA:536467
HP:0002751	Kyphoscoliosis	126792	B3GALT6	OMIM:615349
HP:0002751	Kyphoscoliosis	6651	SON	ORPHA:500150
HP:0002751	Kyphoscoliosis	84631	SLITRK2	OMIM:301107
HP:0002751	Kyphoscoliosis	89970	RSPRY1	ORPHA:457395
HP:0002751	Kyphoscoliosis	80208	SPG11	OMIM:616668
HP:0002751	Kyphoscoliosis	1073	CFL2	OMIM:610687
HP:0002751	Kyphoscoliosis	138050	HGSNAT	OMIM:252930
HP:0002751	Kyphoscoliosis	875	CBS	OMIM:236200
HP:0002751	Kyphoscoliosis	10269	ZMPSTE24	OMIM:275210
HP:0002751	Kyphoscoliosis	9203	ZMYM3	OMIM:301111
HP:0002751	Kyphoscoliosis	3908	LAMA2	OMIM:607855
HP:0002751	Kyphoscoliosis	7043	TGFB3	OMIM:615582
HP:0002751	Kyphoscoliosis	4137	MAPT	OMIM:260540
HP:0002751	Kyphoscoliosis	523	ATP6V1A	OMIM:617403
HP:0002751	Kyphoscoliosis	529	ATP6V1E1	OMIM:617402
HP:0002751	Kyphoscoliosis	26123	TCTN3	OMIM:614815
HP:0002751	Kyphoscoliosis	8517	IKBKG	OMIM:308300
HP:0002751	Kyphoscoliosis	9898	UBAP2L	OMIM:620494
HP:0002751	Kyphoscoliosis	246329	STAC3	OMIM:255995
HP:0002751	Kyphoscoliosis	673	BRAF	OMIM:163950
HP:0002751	Kyphoscoliosis	5604	MAP2K1	OMIM:163950
HP:0002751	Kyphoscoliosis	1009	CDH11	ORPHA:1299
HP:0002751	Kyphoscoliosis	25871	NEPRO	OMIM:618853
HP:0002751	Kyphoscoliosis	10940	POP1	OMIM:617396
HP:0002751	Kyphoscoliosis	4247	MGAT2	OMIM:212066
HP:0002751	Kyphoscoliosis	8022	LHX3	ORPHA:231720
HP:0002751	Kyphoscoliosis	10533	ATG7	OMIM:619422
HP:0007068	Inferior cerebellar vermis hypoplasia	63895	PIEZO2	OMIM:248700
HP:0007068	Inferior cerebellar vermis hypoplasia	3897	L1CAM	OMIM:304100
HP:0007068	Inferior cerebellar vermis hypoplasia	2972	BRF1	ORPHA:444072
HP:0007068	Inferior cerebellar vermis hypoplasia	652	BMP4	OMIM:607932
HP:0007068	Inferior cerebellar vermis hypoplasia	652	BMP4	ORPHA:139471
HP:0007068	Inferior cerebellar vermis hypoplasia	83696	TRAPPC9	OMIM:613192
HP:0007068	Inferior cerebellar vermis hypoplasia	9851	KIAA0753	OMIM:619476
HP:0007068	Inferior cerebellar vermis hypoplasia	80816	ASXL3	OMIM:615485
HP:0007068	Inferior cerebellar vermis hypoplasia	26173	INTS1	OMIM:618571
HP:0007068	Inferior cerebellar vermis hypoplasia	4190	MDH1	OMIM:618959
HP:0007068	Inferior cerebellar vermis hypoplasia	7436	VLDLR	OMIM:224050
HP:0007068	Inferior cerebellar vermis hypoplasia	50628	GEMIN4	OMIM:617913
HP:0007068	Inferior cerebellar vermis hypoplasia	400569	MED11	OMIM:620327
HP:0007068	Inferior cerebellar vermis hypoplasia	2911	GRM1	OMIM:614831
HP:0007068	Inferior cerebellar vermis hypoplasia	284217	LAMA1	ORPHA:370022
HP:0007068	Inferior cerebellar vermis hypoplasia	253738	EBF3	ORPHA:96148
HP:0007068	Inferior cerebellar vermis hypoplasia	84320	ACBD6	OMIM:620785
HP:0005722	Hyperextensible thumb	8239	USP9X	ORPHA:480880
HP:0010487	Small hypothenar eminence	6135	RPL11	OMIM:612562
HP:0010487	Small hypothenar eminence	6910	TBX5	OMIM:142900
HP:0010487	Small hypothenar eminence	9775	EIF4A3	OMIM:268305
HP:0010487	Small hypothenar eminence	121512	FGD4	OMIM:609311
HP:0005720	Shortening of all metacarpals	1311	COMP	ORPHA:750
HP:0008981	Calf muscle hypertrophy	6445	SGCG	ORPHA:353
HP:0008981	Calf muscle hypertrophy	10585	POMT1	OMIM:609308
HP:0008981	Calf muscle hypertrophy	10585	POMT1	ORPHA:86812
HP:0008981	Calf muscle hypertrophy	10585	POMT1	ORPHA:370968
HP:0008981	Calf muscle hypertrophy	10585	POMT1	OMIM:613155
HP:0008981	Calf muscle hypertrophy	7273	TTN	OMIM:603689
HP:0008981	Calf muscle hypertrophy	7273	TTN	ORPHA:178464
HP:0008981	Calf muscle hypertrophy	7273	TTN	OMIM:611705
HP:0008981	Calf muscle hypertrophy	10367	MICU1	OMIM:615673
HP:0008981	Calf muscle hypertrophy	859	CAV3	OMIM:606072
HP:0008981	Calf muscle hypertrophy	859	CAV3	OMIM:614321
HP:0008981	Calf muscle hypertrophy	6606	SMN1	OMIM:271150
HP:0008981	Calf muscle hypertrophy	1756	DMD	OMIM:310200
HP:0008981	Calf muscle hypertrophy	1756	DMD	ORPHA:206546
HP:0008981	Calf muscle hypertrophy	1756	DMD	ORPHA:98896
HP:0008981	Calf muscle hypertrophy	2218	FKTN	OMIM:253800
HP:0008981	Calf muscle hypertrophy	2218	FKTN	OMIM:611615
HP:0008981	Calf muscle hypertrophy	2218	FKTN	OMIM:611588
HP:0008981	Calf muscle hypertrophy	274	BIN1	ORPHA:169189
HP:0008981	Calf muscle hypertrophy	64419	MTMR14	ORPHA:169189
HP:0008981	Calf muscle hypertrophy	4618	MYF6	ORPHA:169189
HP:0008981	Calf muscle hypertrophy	1785	DNM2	ORPHA:169189
HP:0008981	Calf muscle hypertrophy	6261	RYR1	ORPHA:169189
HP:0008981	Calf muscle hypertrophy	6442	SGCA	OMIM:608099
HP:0008981	Calf muscle hypertrophy	5339	PLEC	ORPHA:254361
HP:0008981	Calf muscle hypertrophy	8291	DYSF	ORPHA:268
HP:0008981	Calf muscle hypertrophy	8291	DYSF	ORPHA:45448
HP:0008981	Calf muscle hypertrophy	825	CAPN3	ORPHA:267
HP:0008981	Calf muscle hypertrophy	5346	PLIN1	ORPHA:280356
HP:0008981	Calf muscle hypertrophy	729920	CRPPA	OMIM:616052
HP:0008981	Calf muscle hypertrophy	6576	SLC25A1	OMIM:618197
HP:0008981	Calf muscle hypertrophy	63924	CIDEC	ORPHA:435651
HP:0008981	Calf muscle hypertrophy	400916	CHCHD10	OMIM:615048
HP:0008981	Calf muscle hypertrophy	3736	KCNA1	ORPHA:37612
HP:0008981	Calf muscle hypertrophy	9215	LARGE1	OMIM:608840
HP:0008981	Calf muscle hypertrophy	9215	LARGE1	ORPHA:370968
HP:0008981	Calf muscle hypertrophy	79147	FKRP	OMIM:607155
HP:0008981	Calf muscle hypertrophy	79147	FKRP	ORPHA:370968
HP:0008981	Calf muscle hypertrophy	79147	FKRP	OMIM:606612
HP:0008981	Calf muscle hypertrophy	79147	FKRP	ORPHA:34515
HP:0008981	Calf muscle hypertrophy	29925	GMPPB	ORPHA:370968
HP:0008981	Calf muscle hypertrophy	29954	POMT2	ORPHA:370968
HP:0008981	Calf muscle hypertrophy	29954	POMT2	ORPHA:206559
HP:0008981	Calf muscle hypertrophy	6444	SGCD	OMIM:601287
HP:0008981	Calf muscle hypertrophy	2483	FRG1	OMIM:158900
HP:0008981	Calf muscle hypertrophy	146862	UNC45B	OMIM:619178
HP:0008981	Calf muscle hypertrophy	64208	POPDC3	OMIM:618848
HP:0008981	Calf muscle hypertrophy	55624	POMGNT1	OMIM:613157
HP:0008981	Calf muscle hypertrophy	4625	MYH7	OMIM:255160
HP:0008981	Calf muscle hypertrophy	80208	SPG11	OMIM:616668
HP:0008981	Calf muscle hypertrophy	55679	LIMS2	OMIM:616827
HP:0008981	Calf muscle hypertrophy	7555	CNBP	ORPHA:606
HP:0008981	Calf muscle hypertrophy	203859	ANO5	OMIM:613319
HP:0008981	Calf muscle hypertrophy	203859	ANO5	OMIM:611307
HP:0008981	Calf muscle hypertrophy	203859	ANO5	ORPHA:206549
HP:0008981	Calf muscle hypertrophy	9217	VAPB	ORPHA:209335
HP:0008981	Calf muscle hypertrophy	1605	DAG1	ORPHA:280333
HP:0008981	Calf muscle hypertrophy	84892	POMGNT2	OMIM:618135
HP:0008981	Calf muscle hypertrophy	8557	TCAP	OMIM:601954
HP:0008981	Calf muscle hypertrophy	54344	DPM3	ORPHA:263494
HP:0008981	Calf muscle hypertrophy	51776	MAP3K20	OMIM:617760
HP:0008981	Calf muscle hypertrophy	3908	LAMA2	OMIM:618138
HP:0008981	Calf muscle hypertrophy	8449	DHX16	OMIM:618733
HP:0008981	Calf muscle hypertrophy	367	AR	OMIM:313200
HP:0008981	Calf muscle hypertrophy	6443	SGCB	ORPHA:119
HP:0008981	Calf muscle hypertrophy	4000	LMNA	ORPHA:79474
HP:0008981	Calf muscle hypertrophy	3156	HMGCR	OMIM:620375
HP:0008981	Calf muscle hypertrophy	8425	LTBP4	ORPHA:98896
HP:0008981	Calf muscle hypertrophy	5376	PMP22	ORPHA:101081
HP:0003710	Exercise-induced muscle cramps	487	ATP2A1	OMIM:601003
HP:0003710	Exercise-induced muscle cramps	6566	SLC16A1	OMIM:245340
HP:0003710	Exercise-induced muscle cramps	3094	HINT1	ORPHA:324442
HP:0003710	Exercise-induced muscle cramps	3920	LAMP2	OMIM:300257
HP:0003710	Exercise-induced muscle cramps	5230	PGK1	OMIM:300653
HP:0003710	Exercise-induced muscle cramps	5224	PGAM2	OMIM:261670
HP:0003710	Exercise-induced muscle cramps	859	CAV3	OMIM:123320
HP:0003710	Exercise-induced muscle cramps	859	CAV3	OMIM:606072
HP:0003710	Exercise-induced muscle cramps	5213	PFKM	OMIM:232800
HP:0003710	Exercise-induced muscle cramps	3908	LAMA2	OMIM:618138
HP:0003710	Exercise-induced muscle cramps	5837	PYGM	OMIM:232600
HP:0003710	Exercise-induced muscle cramps	5837	PYGM	ORPHA:368
HP:0003710	Exercise-induced muscle cramps	400916	CHCHD10	ORPHA:276435
HP:0003710	Exercise-induced muscle cramps	90523	MLIP	OMIM:620138
HP:0003710	Exercise-induced muscle cramps	1376	CPT2	ORPHA:228302
HP:0003710	Exercise-induced muscle cramps	1376	CPT2	ORPHA:228305
HP:0003710	Exercise-induced muscle cramps	1756	DMD	ORPHA:206546
HP:0003710	Exercise-induced muscle cramps	6261	RYR1	ORPHA:466650
HP:0003710	Exercise-induced muscle cramps	5836	PYGL	ORPHA:369
HP:0003710	Exercise-induced muscle cramps	1807	DPYS	OMIM:222748
HP:0008985	Increased intramuscular fat	400916	CHCHD10	ORPHA:276435
HP:0008985	Increased intramuscular fat	4000	LMNA	OMIM:151660
HP:0008986	Agenesis of the diaphragm	219844	HYLS1	OMIM:236680
HP:0008988	Pelvic girdle muscle atrophy	22954	TRIM32	OMIM:254110
HP:0008988	Pelvic girdle muscle atrophy	7415	VCP	OMIM:167320
HP:0008988	Pelvic girdle muscle atrophy	6443	SGCB	OMIM:604286
HP:0008988	Pelvic girdle muscle atrophy	4000	LMNA	ORPHA:98856
HP:0008988	Pelvic girdle muscle atrophy	203859	ANO5	ORPHA:206549
HP:0009002	Loss of truncal subcutaneous adipose tissue	10269	ZMPSTE24	OMIM:608612
HP:0009002	Loss of truncal subcutaneous adipose tissue	4000	LMNA	OMIM:151660
HP:0009002	Loss of truncal subcutaneous adipose tissue	84823	LMNB2	OMIM:608709
HP:0031860	Abnormal heart rate variability	2260	FGFR1	ORPHA:220386
HP:0031860	Abnormal heart rate variability	2260	FGFR1	ORPHA:93924
HP:0031860	Abnormal heart rate variability	28514	DLL1	ORPHA:220386
HP:0031860	Abnormal heart rate variability	28514	DLL1	ORPHA:93926
HP:0031860	Abnormal heart rate variability	28514	DLL1	ORPHA:93924
HP:0031860	Abnormal heart rate variability	28514	DLL1	ORPHA:93925
HP:0031860	Abnormal heart rate variability	10735	STAG2	ORPHA:220386
HP:0031860	Abnormal heart rate variability	10735	STAG2	ORPHA:93925
HP:0031860	Abnormal heart rate variability	2253	FGF8	ORPHA:220386
HP:0031860	Abnormal heart rate variability	2253	FGF8	ORPHA:93926
HP:0031860	Abnormal heart rate variability	2253	FGF8	ORPHA:93924
HP:0031860	Abnormal heart rate variability	2253	FGF8	ORPHA:93925
HP:0031860	Abnormal heart rate variability	8243	SMC1A	ORPHA:220386
HP:0031860	Abnormal heart rate variability	6496	SIX3	ORPHA:220386
HP:0031860	Abnormal heart rate variability	6496	SIX3	ORPHA:93926
HP:0031860	Abnormal heart rate variability	6496	SIX3	ORPHA:93924
HP:0031860	Abnormal heart rate variability	6496	SIX3	ORPHA:93925
HP:0031860	Abnormal heart rate variability	7050	TGIF1	ORPHA:220386
HP:0031860	Abnormal heart rate variability	7050	TGIF1	ORPHA:93926
HP:0031860	Abnormal heart rate variability	7050	TGIF1	ORPHA:93924
HP:0031860	Abnormal heart rate variability	7050	TGIF1	ORPHA:93925
HP:0031860	Abnormal heart rate variability	4838	NODAL	ORPHA:220386
HP:0031860	Abnormal heart rate variability	4838	NODAL	ORPHA:93926
HP:0031860	Abnormal heart rate variability	4838	NODAL	ORPHA:93924
HP:0031860	Abnormal heart rate variability	4838	NODAL	ORPHA:93925
HP:0031860	Abnormal heart rate variability	6469	SHH	ORPHA:220386
HP:0031860	Abnormal heart rate variability	6469	SHH	ORPHA:93926
HP:0031860	Abnormal heart rate variability	6469	SHH	ORPHA:93924
HP:0031860	Abnormal heart rate variability	6469	SHH	ORPHA:93925
HP:0031860	Abnormal heart rate variability	7546	ZIC2	ORPHA:220386
HP:0031860	Abnormal heart rate variability	7546	ZIC2	ORPHA:93926
HP:0031860	Abnormal heart rate variability	7546	ZIC2	ORPHA:93924
HP:0031860	Abnormal heart rate variability	7546	ZIC2	ORPHA:93925
HP:0031860	Abnormal heart rate variability	6491	STIL	ORPHA:220386
HP:0031860	Abnormal heart rate variability	6491	STIL	ORPHA:93926
HP:0031860	Abnormal heart rate variability	6491	STIL	ORPHA:93924
HP:0031860	Abnormal heart rate variability	6491	STIL	ORPHA:93925
HP:0031860	Abnormal heart rate variability	2619	GAS1	ORPHA:220386
HP:0031860	Abnormal heart rate variability	2619	GAS1	ORPHA:93926
HP:0031860	Abnormal heart rate variability	2619	GAS1	ORPHA:93924
HP:0031860	Abnormal heart rate variability	2619	GAS1	ORPHA:93925
HP:0031860	Abnormal heart rate variability	84976	DISP1	ORPHA:220386
HP:0031860	Abnormal heart rate variability	84976	DISP1	ORPHA:93926
HP:0031860	Abnormal heart rate variability	84976	DISP1	ORPHA:93924
HP:0031860	Abnormal heart rate variability	84976	DISP1	ORPHA:93925
HP:0031860	Abnormal heart rate variability	2736	GLI2	ORPHA:220386
HP:0031860	Abnormal heart rate variability	2736	GLI2	ORPHA:93926
HP:0031860	Abnormal heart rate variability	2736	GLI2	ORPHA:93924
HP:0031860	Abnormal heart rate variability	2736	GLI2	ORPHA:93925
HP:0031860	Abnormal heart rate variability	8928	FOXH1	ORPHA:220386
HP:0031860	Abnormal heart rate variability	8928	FOXH1	ORPHA:93926
HP:0031860	Abnormal heart rate variability	8928	FOXH1	ORPHA:93924
HP:0031860	Abnormal heart rate variability	8928	FOXH1	ORPHA:93925
HP:0031860	Abnormal heart rate variability	6997	CRIPTO	ORPHA:220386
HP:0031860	Abnormal heart rate variability	6997	CRIPTO	ORPHA:93926
HP:0031860	Abnormal heart rate variability	6997	CRIPTO	ORPHA:93924
HP:0031860	Abnormal heart rate variability	6997	CRIPTO	ORPHA:93925
HP:0031860	Abnormal heart rate variability	5727	PTCH1	ORPHA:220386
HP:0031860	Abnormal heart rate variability	5727	PTCH1	ORPHA:93926
HP:0031860	Abnormal heart rate variability	5727	PTCH1	ORPHA:93924
HP:0031860	Abnormal heart rate variability	5727	PTCH1	ORPHA:93925
HP:0031860	Abnormal heart rate variability	50937	CDON	ORPHA:220386
HP:0031860	Abnormal heart rate variability	50937	CDON	ORPHA:93926
HP:0031860	Abnormal heart rate variability	50937	CDON	ORPHA:93924
HP:0031860	Abnormal heart rate variability	50937	CDON	ORPHA:93925
HP:0031860	Abnormal heart rate variability	23007	PLCH1	ORPHA:93925
HP:0031860	Abnormal heart rate variability	2581	GALC	ORPHA:206436
HP:0031860	Abnormal heart rate variability	5660	PSAP	ORPHA:206436
HP:0031860	Abnormal heart rate variability	8567	MADD	OMIM:619004
HP:0031860	Abnormal heart rate variability	8567	MADD	OMIM:619005
HP:0031860	Abnormal heart rate variability	2934	GSN	OMIM:105120
HP:0031860	Abnormal heart rate variability	8929	PHOX2B	OMIM:209880
HP:0031860	Abnormal heart rate variability	776	CACNA1D	OMIM:614896
HP:0031861	Decreased heart rate variability	8567	MADD	OMIM:619004
HP:0031861	Decreased heart rate variability	8567	MADD	OMIM:619005
HP:0031861	Decreased heart rate variability	2934	GSN	OMIM:105120
HP:0031861	Decreased heart rate variability	8929	PHOX2B	OMIM:209880
HP:0031862	Increased heart rate variability	776	CACNA1D	OMIM:614896
HP:0031863	Bloodstream infectious agent	3604	TNFRSF9	OMIM:620282
HP:0031863	Bloodstream infectious agent	84061	MAGT1	OMIM:300853
HP:0031863	Bloodstream infectious agent	10043	TOM1	OMIM:619510
HP:0031863	Bloodstream infectious agent	54790	TET2	OMIM:619126
HP:0031863	Bloodstream infectious agent	939	CD27	OMIM:615122
HP:0031863	Bloodstream infectious agent	28755	TRAC	OMIM:615387
HP:0031863	Bloodstream infectious agent	3702	ITK	OMIM:613011
HP:0031863	Bloodstream infectious agent	50619	DEF6	OMIM:619573
HP:0031863	Bloodstream infectious agent	27040	LAT	OMIM:617514
HP:0031863	Bloodstream infectious agent	5295	PIK3R1	OMIM:616005
HP:0031863	Bloodstream infectious agent	940	CD28	OMIM:620901
HP:0031863	Bloodstream infectious agent	5580	PRKCD	OMIM:615559
HP:0031863	Bloodstream infectious agent	22806	IKZF3	OMIM:619437
HP:0031863	Bloodstream infectious agent	5238	PGM3	OMIM:615816
HP:0031863	Bloodstream infectious agent	6789	STK4	OMIM:614868
HP:0031863	Bloodstream infectious agent	1991	ELANE	ORPHA:2686
HP:0031863	Bloodstream infectious agent	5966	REL	OMIM:619652
HP:0031863	Bloodstream infectious agent	7174	TPP2	OMIM:619220
HP:0031863	Bloodstream infectious agent	3560	IL2RB	OMIM:618495
HP:0031863	Bloodstream infectious agent	1503	CTPS1	OMIM:615897
HP:0031864	Bacteremia	1991	ELANE	ORPHA:2686
HP:0031865	Abnormal liver physiology	2271	FH	OMIM:606812
HP:0031865	Abnormal liver physiology	3043	HBB	ORPHA:232
HP:0031865	Abnormal liver physiology	80270	HSD3B7	OMIM:607765
HP:0031865	Abnormal liver physiology	3376	IARS1	OMIM:617093
HP:0031865	Abnormal liver physiology	8647	ABCB11	OMIM:601847
HP:0031865	Abnormal liver physiology	8647	ABCB11	OMIM:605479
HP:0031865	Abnormal liver physiology	6309	SC5D	ORPHA:46059
HP:0031865	Abnormal liver physiology	6309	SC5D	OMIM:607330
HP:0031865	Abnormal liver physiology	54914	FOCAD	OMIM:619991
HP:0031865	Abnormal liver physiology	4358	MPV17	OMIM:256810
HP:0031865	Abnormal liver physiology	6718	AKR1D1	OMIM:235555
HP:0031865	Abnormal liver physiology	9414	TJP2	OMIM:615878
HP:0031865	Abnormal liver physiology	5236	PGM1	OMIM:614921
HP:0031865	Abnormal liver physiology	5195	PEX14	OMIM:614887
HP:0031865	Abnormal liver physiology	9420	CYP7B1	OMIM:613812
HP:0031865	Abnormal liver physiology	23600	AMACR	OMIM:214950
HP:0031865	Abnormal liver physiology	5314	PKHD1	ORPHA:53035
HP:0031865	Abnormal liver physiology	10165	SLC25A13	OMIM:605814
HP:0031865	Abnormal liver physiology	5244	ABCB4	OMIM:602347
HP:0031865	Abnormal liver physiology	5244	ABCB4	ORPHA:69663
HP:0031865	Abnormal liver physiology	5244	ABCB4	OMIM:614972
HP:0031865	Abnormal liver physiology	197131	UBR1	OMIM:243800
HP:0031865	Abnormal liver physiology	55610	VPS50	OMIM:619685
HP:0031865	Abnormal liver physiology	6514	SLC2A2	OMIM:227810
HP:0031865	Abnormal liver physiology	5205	ATP8B1	OMIM:147480
HP:0031865	Abnormal liver physiology	162	AP1B1	ORPHA:171851
HP:0031865	Abnormal liver physiology	1174	AP1S1	ORPHA:171851
HP:0031865	Abnormal liver physiology	200931	SLC51A	OMIM:619484
HP:0031865	Abnormal liver physiology	84936	ZFYVE19	OMIM:619849
HP:0031865	Abnormal liver physiology	427	ASAH1	ORPHA:333
HP:0031865	Abnormal liver physiology	7840	ALMS1	ORPHA:64
HP:0031867	Neck hypertonia	10157	AASS	ORPHA:2203
HP:0031868	Optic ataxia	348	APOE	OMIM:607822
HP:0031868	Optic ataxia	5663	PSEN1	OMIM:607822
HP:0031869	Recurrent joint dislocation	10586	MAB21L2	OMIM:615877
HP:0031869	Recurrent joint dislocation	6261	RYR1	ORPHA:178145
HP:0031869	Recurrent joint dislocation	91179	SCARF2	OMIM:600920
HP:0031869	Recurrent joint dislocation	63895	PIEZO2	OMIM:108145
HP:0031869	Recurrent joint dislocation	54928	BPNT2	OMIM:614078
HP:0031869	Recurrent joint dislocation	5567	PRKACB	OMIM:619143
HP:0031869	Recurrent joint dislocation	165	AEBP1	OMIM:618000
HP:0031869	Recurrent joint dislocation	4000	LMNA	OMIM:212112
HP:0031869	Recurrent joint dislocation	1278	COL1A2	ORPHA:230851
HP:0031869	Recurrent joint dislocation	113189	CHST14	ORPHA:2953
HP:0031869	Recurrent joint dislocation	29940	DSE	ORPHA:2953
HP:0031869	Recurrent joint dislocation	1277	COL1A1	OMIM:619115
HP:0031869	Recurrent joint dislocation	1290	COL5A2	OMIM:130010
HP:0031869	Recurrent joint dislocation	10526	IPO8	OMIM:619472
HP:0005733	Spinal stenosis with reduced interpedicular distance	2261	FGFR3	OMIM:100800
HP:0005731	Cortical irregularity	1277	COL1A1	ORPHA:1310
HP:0005731	Cortical irregularity	1277	COL1A1	OMIM:114000
HP:0005731	Cortical irregularity	285590	SH3PXD2B	OMIM:249420
HP:0010585	Small epiphyses	1311	COMP	ORPHA:750
HP:0010585	Small epiphyses	1311	COMP	OMIM:177170
HP:0010585	Small epiphyses	1311	COMP	OMIM:132400
HP:0010585	Small epiphyses	4322	MMP13	OMIM:602111
HP:0010585	Small epiphyses	4322	MMP13	ORPHA:93356
HP:0010585	Small epiphyses	3835	KIF22	OMIM:603546
HP:0010585	Small epiphyses	9131	AIFM1	OMIM:300232
HP:0010585	Small epiphyses	9469	CHST3	ORPHA:263463
HP:0010585	Small epiphyses	9469	CHST3	OMIM:143095
HP:0010585	Small epiphyses	84068	SLC10A7	OMIM:618363
HP:0010585	Small epiphyses	89970	RSPRY1	ORPHA:457395
HP:0010585	Small epiphyses	89970	RSPRY1	OMIM:616723
HP:0010585	Small epiphyses	54187	NANS	OMIM:610442
HP:0010585	Small epiphyses	347734	SLC35B2	OMIM:620269
HP:0010585	Small epiphyses	1280	COL2A1	ORPHA:94068
HP:0010585	Small epiphyses	1280	COL2A1	ORPHA:93346
HP:0010585	Small epiphyses	4796	TONSL	ORPHA:93357
HP:0010585	Small epiphyses	4796	TONSL	OMIM:271510
HP:0010585	Small epiphyses	4148	MATN3	OMIM:608728
HP:0010585	Small epiphyses	4148	MATN3	OMIM:607078
HP:0010585	Small epiphyses	1298	COL9A2	OMIM:600204
HP:0010585	Small epiphyses	9321	TRIP11	OMIM:184260
HP:0010585	Small epiphyses	100151683	RNU4ATAC	OMIM:226960
HP:0010585	Small epiphyses	9451	EIF2AK3	OMIM:226980
HP:0010585	Small epiphyses	1299	COL9A3	OMIM:600969
HP:0010585	Small epiphyses	91147	TMEM67	ORPHA:140976
HP:0010585	Small epiphyses	1297	COL9A1	OMIM:614135
HP:0010585	Small epiphyses	6023	RMRP	OMIM:607095
HP:0010585	Small epiphyses	1301	COL11A1	OMIM:154780
HP:0010585	Small epiphyses	388015	RTL1	ORPHA:96334
HP:0010585	Small epiphyses	8788	DLK1	ORPHA:96334
HP:0010585	Small epiphyses	55384	MEG3	ORPHA:96334
HP:0002832	Calcific stippling	5828	PEX2	OMIM:614866
HP:0002832	Calcific stippling	5830	PEX5	OMIM:214110
HP:0002832	Calcific stippling	10682	EBP	OMIM:302960
HP:0002832	Calcific stippling	3295	HSD17B4	OMIM:261515
HP:0002832	Calcific stippling	8443	GNPAT	OMIM:222765
HP:0010047	Short 5th metacarpal	55612	FERMT1	ORPHA:2908
HP:0010047	Short 5th metacarpal	650	BMP2	OMIM:617877
HP:0010047	Short 5th metacarpal	5593	PRKG2	OMIM:619638
HP:0010047	Short 5th metacarpal	3930	LBR	OMIM:169400
HP:0010047	Short 5th metacarpal	3930	LBR	OMIM:618019
HP:0010047	Short 5th metacarpal	374969	SVBP	OMIM:618569
HP:0010047	Short 5th metacarpal	90459	ERI1	OMIM:620662
HP:0010047	Short 5th metacarpal	2778	GNAS	ORPHA:79443
HP:0010047	Short 5th metacarpal	2778	GNAS	ORPHA:79444
HP:0010047	Short 5th metacarpal	2778	GNAS	ORPHA:79445
HP:0010047	Short 5th metacarpal	1302	COL11A2	OMIM:215150
HP:0010047	Short 5th metacarpal	10847	SRCAP	OMIM:136140
HP:0010047	Short 5th metacarpal	860	RUNX2	OMIM:156510
HP:0010047	Short 5th metacarpal	3239	HOXD13	ORPHA:93409
HP:0010047	Short 5th metacarpal	2316	FLNA	OMIM:311300
HP:0010047	Short 5th metacarpal	8823	FGF16	OMIM:309630
HP:0010047	Short 5th metacarpal	9241	NOG	OMIM:185800
HP:0010047	Short 5th metacarpal	9126	SMC3	OMIM:610759
HP:0005736	Short tibia	8200	GDF5	OMIM:200700
HP:0005736	Short tibia	8200	GDF5	OMIM:201250
HP:0005736	Short tibia	8200	GDF5	ORPHA:2098
HP:0005736	Short tibia	64327	LMBR1	OMIM:200500
HP:0005736	Short tibia	64327	LMBR1	ORPHA:93405
HP:0005736	Short tibia	153241	CEP120	OMIM:616300
HP:0005736	Short tibia	10082	GPC6	OMIM:258315
HP:0005736	Short tibia	1317	SLC31A1	OMIM:620306
HP:0005736	Short tibia	7355	SLC35A2	ORPHA:356961
HP:0005736	Short tibia	658	BMPR1B	ORPHA:2098
HP:0005736	Short tibia	4750	NEK1	ORPHA:2751
HP:0005736	Short tibia	6473	SHOX	OMIM:127300
HP:0005736	Short tibia	6473	SHOX	ORPHA:240
HP:0005736	Short tibia	6473	SHOX	OMIM:249700
HP:0005736	Short tibia	64093	SMOC1	ORPHA:1106
HP:0005736	Short tibia	79087	ALG12	OMIM:607143
HP:0005736	Short tibia	2317	FLNB	ORPHA:56305
HP:0005736	Short tibia	3549	IHH	OMIM:607778
HP:0005736	Short tibia	3977	LIFR	OMIM:601559
HP:0005736	Short tibia	9775	EIF4A3	OMIM:268305
HP:0005736	Short tibia	6469	SHH	ORPHA:93405
HP:0005736	Short tibia	27152	INTU	OMIM:617925
HP:0005736	Short tibia	388015	RTL1	ORPHA:96334
HP:0005736	Short tibia	8788	DLK1	ORPHA:96334
HP:0005736	Short tibia	55384	MEG3	ORPHA:96334
HP:0005736	Short tibia	3911	LAMA5	OMIM:620076
HP:0005736	Short tibia	57688	ZSWIM6	OMIM:603671
HP:0005736	Short tibia	29980	DONSON	OMIM:251230
HP:0005736	Short tibia	26123	TCTN3	OMIM:258860
HP:0005736	Short tibia	2737	GLI3	ORPHA:93322
HP:0005736	Short tibia	219844	HYLS1	OMIM:236680
HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	59341	TRPV4	OMIM:606835
HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	5281	PIGF	OMIM:619356
HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	415	ARSL	ORPHA:79345
HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	3756	KCNH1	OMIM:135500
HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	9896	FIG4	ORPHA:3472
HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	55697	VAC14	ORPHA:3472
HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	51776	MAP3K20	ORPHA:488232
HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	5744	PTHLH	ORPHA:93387
HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	3239	HOXD13	ORPHA:93387
HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	57492	ARID1B	OMIM:135900
HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	4920	ROR2	OMIM:113000
HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	54101	RIPK4	ORPHA:1234
HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	9241	NOG	OMIM:611377
HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	2239	GPC4	ORPHA:2662
HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	3782	KCNN3	OMIM:618658
HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	285203	EOGT	OMIM:615297
HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	6910	TBX5	OMIM:142900
HP:0003634	Amyoplasia	1134	CHRNA1	OMIM:253290
HP:0003634	Amyoplasia	1146	CHRNG	OMIM:253290
HP:0003634	Amyoplasia	1144	CHRND	OMIM:253290
HP:0003634	Amyoplasia	59341	TRPV4	OMIM:181405
HP:0008991	Exercise-induced leg cramps	3094	HINT1	ORPHA:324442
HP:0008993	Increased intraabdominal fat	3991	LIPE	ORPHA:435660
HP:0008993	Increased intraabdominal fat	4000	LMNA	ORPHA:280365
HP:0008993	Increased intraabdominal fat	4000	LMNA	OMIM:151660
HP:0008993	Increased intraabdominal fat	208	AKT2	ORPHA:79085
HP:0008997	Proximal muscle weakness in upper limbs	54332	GDAP1	OMIM:607706
HP:0008997	Proximal muscle weakness in upper limbs	54332	GDAP1	ORPHA:101097
HP:0008997	Proximal muscle weakness in upper limbs	339855	KY	ORPHA:496689
HP:0008997	Proximal muscle weakness in upper limbs	203859	ANO5	ORPHA:399096
HP:0008997	Proximal muscle weakness in upper limbs	203859	ANO5	ORPHA:206549
HP:0008997	Proximal muscle weakness in upper limbs	7415	VCP	ORPHA:435387
HP:0008997	Proximal muscle weakness in upper limbs	7415	VCP	OMIM:616687
HP:0008997	Proximal muscle weakness in upper limbs	7415	VCP	OMIM:613954
HP:0008997	Proximal muscle weakness in upper limbs	59341	TRPV4	OMIM:606071
HP:0008997	Proximal muscle weakness in upper limbs	4593	MUSK	OMIM:616325
HP:0008997	Proximal muscle weakness in upper limbs	3991	LIPE	ORPHA:435660
HP:0008997	Proximal muscle weakness in upper limbs	400916	CHCHD10	ORPHA:457050
HP:0008997	Proximal muscle weakness in upper limbs	400916	CHCHD10	ORPHA:276435
HP:0008997	Proximal muscle weakness in upper limbs	64856	VWA1	OMIM:619216
HP:0008997	Proximal muscle weakness in upper limbs	311	ANXA11	OMIM:619733
HP:0008997	Proximal muscle weakness in upper limbs	80208	SPG11	OMIM:616668
HP:0008997	Proximal muscle weakness in upper limbs	10229	COQ7	OMIM:620402
HP:0008997	Proximal muscle weakness in upper limbs	81846	SBF2	ORPHA:99956
HP:0008997	Proximal muscle weakness in upper limbs	9990	SLC12A6	OMIM:620068
HP:0008997	Proximal muscle weakness in upper limbs	274	BIN1	ORPHA:169189
HP:0008997	Proximal muscle weakness in upper limbs	64419	MTMR14	ORPHA:169189
HP:0008997	Proximal muscle weakness in upper limbs	64419	MTMR14	OMIM:160150
HP:0008997	Proximal muscle weakness in upper limbs	4618	MYF6	ORPHA:169189
HP:0008997	Proximal muscle weakness in upper limbs	1785	DNM2	ORPHA:169189
HP:0008997	Proximal muscle weakness in upper limbs	1785	DNM2	OMIM:160150
HP:0008997	Proximal muscle weakness in upper limbs	6261	RYR1	ORPHA:169189
HP:0008997	Proximal muscle weakness in upper limbs	2273	FHL1	ORPHA:98863
HP:0008997	Proximal muscle weakness in upper limbs	2010	EMD	ORPHA:98863
HP:0008997	Proximal muscle weakness in upper limbs	4000	LMNA	OMIM:181350
HP:0008997	Proximal muscle weakness in upper limbs	4000	LMNA	ORPHA:98855
HP:0008997	Proximal muscle weakness in upper limbs	4000	LMNA	ORPHA:98853
HP:0008997	Proximal muscle weakness in upper limbs	8291	DYSF	ORPHA:268
HP:0008997	Proximal muscle weakness in upper limbs	23676	SMPX	OMIM:301075
HP:0008997	Proximal muscle weakness in upper limbs	29925	GMPPB	ORPHA:363623
HP:0008997	Proximal muscle weakness in upper limbs	8557	TCAP	OMIM:601954
HP:0008997	Proximal muscle weakness in upper limbs	3714	JAG2	OMIM:619566
HP:0008997	Proximal muscle weakness in upper limbs	22880	MORC2	ORPHA:466768
HP:0008997	Proximal muscle weakness in upper limbs	3908	LAMA2	OMIM:618138
HP:0008997	Proximal muscle weakness in upper limbs	1371	CPOX	ORPHA:79273
HP:0008997	Proximal muscle weakness in upper limbs	84033	OBSCN	ORPHA:99845
HP:0008997	Proximal muscle weakness in upper limbs	23175	LPIN1	ORPHA:99845
HP:0008997	Proximal muscle weakness in upper limbs	4512	MT-CO1	ORPHA:99845
HP:0008997	Proximal muscle weakness in upper limbs	4514	MT-CO3	ORPHA:99845
HP:0008997	Proximal muscle weakness in upper limbs	5498	PPOX	ORPHA:79473
HP:0008997	Proximal muscle weakness in upper limbs	3145	HMBS	ORPHA:79276
HP:0008997	Proximal muscle weakness in upper limbs	4747	NEFL	ORPHA:101085
HP:0008997	Proximal muscle weakness in upper limbs	3156	HMGCR	OMIM:620375
HP:0008997	Proximal muscle weakness in upper limbs	11155	LDB3	ORPHA:98912
HP:0008997	Proximal muscle weakness in upper limbs	10073	SNUPN	OMIM:620793
HP:0008997	Proximal muscle weakness in upper limbs	729920	CRPPA	ORPHA:352479
HP:0008997	Proximal muscle weakness in upper limbs	353116	RILPL1	ORPHA:98897
HP:0008997	Proximal muscle weakness in upper limbs	10755	GIPC1	ORPHA:98897
HP:0008997	Proximal muscle weakness in upper limbs	29967	LRP12	ORPHA:98897
HP:0008997	Proximal muscle weakness in upper limbs	100996717	NOTCH2NLC	ORPHA:98897
HP:0008997	Proximal muscle weakness in upper limbs	79188	TMEM43	ORPHA:98853
HP:0008997	Proximal muscle weakness in upper limbs	23345	SYNE1	ORPHA:98853
HP:0008997	Proximal muscle weakness in upper limbs	23224	SYNE2	ORPHA:98853
HP:0008997	Proximal muscle weakness in upper limbs	81545	FBXO38	OMIM:615575
HP:0008997	Proximal muscle weakness in upper limbs	122622	ADSS1	ORPHA:482601
HP:0008997	Proximal muscle weakness in upper limbs	9927	MFN2	ORPHA:99947
HP:0008997	Proximal muscle weakness in upper limbs	10585	POMT1	ORPHA:86812
HP:0008997	Proximal muscle weakness in upper limbs	6329	SCN4A	ORPHA:98913
HP:0008997	Proximal muscle weakness in upper limbs	1134	CHRNA1	ORPHA:98913
HP:0008997	Proximal muscle weakness in upper limbs	4038	LRP4	ORPHA:98913
HP:0008997	Proximal muscle weakness in upper limbs	1305	COL13A1	ORPHA:98913
HP:0008997	Proximal muscle weakness in upper limbs	1140	CHRNB1	ORPHA:98913
HP:0008997	Proximal muscle weakness in upper limbs	1144	CHRND	ORPHA:98913
HP:0008997	Proximal muscle weakness in upper limbs	1145	CHRNE	ORPHA:98913
HP:0008997	Proximal muscle weakness in upper limbs	5913	RAPSN	ORPHA:98913
HP:0008997	Proximal muscle weakness in upper limbs	375790	AGRN	ORPHA:98913
HP:0008997	Proximal muscle weakness in upper limbs	221264	AK9	ORPHA:98913
HP:0008997	Proximal muscle weakness in upper limbs	285489	DOK7	ORPHA:98913
HP:0008997	Proximal muscle weakness in upper limbs	182	JAG1	OMIM:619574
HP:0008998	Pectoralis hypoplasia	57167	SALL4	OMIM:607323
HP:0008998	Pectoralis hypoplasia	389827	MYMK	OMIM:254940
HP:0003749	Pelvic girdle muscle weakness	6261	RYR1	ORPHA:597
HP:0003749	Pelvic girdle muscle weakness	7273	TTN	OMIM:603689
HP:0003749	Pelvic girdle muscle weakness	1410	CRYAB	OMIM:608810
HP:0003749	Pelvic girdle muscle weakness	23347	SMCHD1	OMIM:158901
HP:0003749	Pelvic girdle muscle weakness	1763	DNA2	OMIM:615156
HP:0003749	Pelvic girdle muscle weakness	5255	PHKA1	OMIM:300559
HP:0003749	Pelvic girdle muscle weakness	22954	TRIM32	OMIM:254110
HP:0003749	Pelvic girdle muscle weakness	1716	DGUOK	ORPHA:329314
HP:0003749	Pelvic girdle muscle weakness	57104	PNPLA2	ORPHA:98908
HP:0003749	Pelvic girdle muscle weakness	5257	PHKB	ORPHA:79240
HP:0003749	Pelvic girdle muscle weakness	7415	VCP	OMIM:167320
HP:0003749	Pelvic girdle muscle weakness	4625	MYH7	OMIM:608358
HP:0003749	Pelvic girdle muscle weakness	7138	TNNT1	OMIM:620389
HP:0003749	Pelvic girdle muscle weakness	4556	MT-TE	ORPHA:2596
HP:0003749	Pelvic girdle muscle weakness	6606	SMN1	OMIM:253400
HP:0003749	Pelvic girdle muscle weakness	6607	SMN2	OMIM:253400
HP:0003749	Pelvic girdle muscle weakness	10049	DNAJB6	OMIM:603511
HP:0003749	Pelvic girdle muscle weakness	9499	MYOT	ORPHA:266
HP:0003749	Pelvic girdle muscle weakness	5339	PLEC	ORPHA:254361
HP:0003749	Pelvic girdle muscle weakness	79147	FKRP	ORPHA:34515
HP:0003749	Pelvic girdle muscle weakness	79147	FKRP	OMIM:607155
HP:0003749	Pelvic girdle muscle weakness	57190	SELENON	ORPHA:2020
HP:0003749	Pelvic girdle muscle weakness	58	ACTA1	ORPHA:2020
HP:0003749	Pelvic girdle muscle weakness	4633	MYL2	ORPHA:2020
HP:0003749	Pelvic girdle muscle weakness	3679	ITGA7	ORPHA:2020
HP:0003749	Pelvic girdle muscle weakness	7169	TPM2	ORPHA:2020
HP:0003749	Pelvic girdle muscle weakness	9200	HACD1	ORPHA:2020
HP:0003749	Pelvic girdle muscle weakness	7170	TPM3	ORPHA:2020
HP:0003749	Pelvic girdle muscle weakness	51776	MAP3K20	ORPHA:2020
HP:0003749	Pelvic girdle muscle weakness	54344	DPM3	ORPHA:263494
HP:0003749	Pelvic girdle muscle weakness	2992	GYG1	OMIM:616199
HP:0003749	Pelvic girdle muscle weakness	1293	COL6A3	OMIM:620728
HP:0003749	Pelvic girdle muscle weakness	8291	DYSF	ORPHA:45448
HP:0003749	Pelvic girdle muscle weakness	23534	TNPO3	OMIM:608423
HP:0003749	Pelvic girdle muscle weakness	6443	SGCB	ORPHA:119
HP:0003749	Pelvic girdle muscle weakness	203859	ANO5	OMIM:611307
HP:0003749	Pelvic girdle muscle weakness	9987	HNRNPDL	OMIM:609115
HP:0003749	Pelvic girdle muscle weakness	2318	FLNC	ORPHA:63273
HP:0003749	Pelvic girdle muscle weakness	6329	SCN4A	ORPHA:98913
HP:0003749	Pelvic girdle muscle weakness	1134	CHRNA1	ORPHA:98913
HP:0003749	Pelvic girdle muscle weakness	4038	LRP4	ORPHA:98913
HP:0003749	Pelvic girdle muscle weakness	1305	COL13A1	ORPHA:98913
HP:0003749	Pelvic girdle muscle weakness	1140	CHRNB1	ORPHA:98913
HP:0003749	Pelvic girdle muscle weakness	1144	CHRND	ORPHA:98913
HP:0003749	Pelvic girdle muscle weakness	1145	CHRNE	ORPHA:98913
HP:0003749	Pelvic girdle muscle weakness	4593	MUSK	ORPHA:98913
HP:0003749	Pelvic girdle muscle weakness	5913	RAPSN	ORPHA:98913
HP:0003749	Pelvic girdle muscle weakness	375790	AGRN	ORPHA:98913
HP:0003749	Pelvic girdle muscle weakness	221264	AK9	ORPHA:98913
HP:0003749	Pelvic girdle muscle weakness	285489	DOK7	ORPHA:98913
HP:0003749	Pelvic girdle muscle weakness	10020	GNE	ORPHA:602
HP:0031870	Phosphohydroxylysinuria	85007	PHYKPL	OMIM:615011
HP:0031873	Early chronotype	8864	PER2	OMIM:604348
HP:0031873	Early chronotype	1453	CSNK1D	OMIM:615224
HP:0031873	Early chronotype	8914	TIMELESS	OMIM:620015
HP:0031873	Early chronotype	8863	PER3	OMIM:616882
HP:0031874	Late chronotype	57680	CHD8	OMIM:615032
HP:0031875	Abnormal circulating hepcidin concentration	5277	PIGA	OMIM:301072
HP:0031875	Abnormal circulating hepcidin concentration	164656	TMPRSS6	OMIM:206200
HP:0031875	Abnormal circulating hepcidin concentration	164656	TMPRSS6	ORPHA:209981
HP:0031875	Abnormal circulating hepcidin concentration	654	BMP6	OMIM:620121
HP:0031875	Abnormal circulating hepcidin concentration	23166	STAB1	OMIM:620729
HP:0031876	Decreased circulating hepcidin concentration	5277	PIGA	OMIM:301072
HP:0031877	Elevated circulating hepcidin concentration	164656	TMPRSS6	OMIM:206200
HP:0031877	Elevated circulating hepcidin concentration	164656	TMPRSS6	ORPHA:209981
HP:0031877	Elevated circulating hepcidin concentration	654	BMP6	OMIM:620121
HP:0031877	Elevated circulating hepcidin concentration	23166	STAB1	OMIM:620729
HP:0031878	Acromicria	1836	SLC26A2	ORPHA:93307
HP:0031878	Acromicria	2688	GH1	OMIM:612781
HP:0031878	Acromicria	388015	RTL1	ORPHA:254525
HP:0031878	Acromicria	8788	DLK1	ORPHA:254525
HP:0031878	Acromicria	55384	MEG3	ORPHA:254525
HP:0031878	Acromicria	100033413	SNORD116-1	OMIM:176270
HP:0031878	Acromicria	8924	HERC2	OMIM:176270
HP:0031878	Acromicria	23742	NPAP1	OMIM:176270
HP:0031878	Acromicria	338433	SNORD115-1	OMIM:176270
HP:0031878	Acromicria	54551	MAGEL2	OMIM:176270
HP:0031878	Acromicria	7681	MKRN3	OMIM:176270
HP:0031878	Acromicria	145624	PWAR1	OMIM:176270
HP:0031878	Acromicria	3653	IPW	OMIM:176270
HP:0031878	Acromicria	791114	PWRN1	OMIM:176270
HP:0031879	Abnormal eyelid physiology	57167	SALL4	ORPHA:233
HP:0031879	Abnormal eyelid physiology	9935	MAFB	ORPHA:233
HP:0031879	Abnormal eyelid physiology	1123	CHN1	ORPHA:233
HP:0031879	Abnormal eyelid physiology	7291	TWIST1	ORPHA:794
HP:0031879	Abnormal eyelid physiology	2263	FGFR2	ORPHA:794
HP:0031879	Abnormal eyelid physiology	2261	FGFR3	ORPHA:794
HP:0031879	Abnormal eyelid physiology	1816	DRD5	OMIM:606798
HP:0031879	Abnormal eyelid physiology	2512	FTL	OMIM:606159
HP:0031879	Abnormal eyelid physiology	2512	FTL	ORPHA:157846
HP:0031879	Abnormal eyelid physiology	63982	ANO3	OMIM:615034
HP:0031879	Abnormal eyelid physiology	63982	ANO3	ORPHA:420485
HP:0031879	Abnormal eyelid physiology	4137	MAPT	ORPHA:240071
HP:0031879	Abnormal eyelid physiology	4137	MAPT	ORPHA:240094
HP:0031879	Abnormal eyelid physiology	1356	CP	OMIM:604290
HP:0031879	Abnormal eyelid physiology	1356	CP	ORPHA:48818
HP:0031879	Abnormal eyelid physiology	10382	TUBB4A	ORPHA:98805
HP:0031879	Abnormal eyelid physiology	55145	THAP1	ORPHA:98806
HP:0031879	Abnormal eyelid physiology	10815	CPLX1	ORPHA:352582
HP:0031879	Abnormal eyelid physiology	57465	TBC1D24	ORPHA:352582
HP:0031879	Abnormal eyelid physiology	6872	TAF1	ORPHA:53351
HP:0031879	Abnormal eyelid physiology	80025	PANK2	OMIM:234200
HP:0031879	Abnormal eyelid physiology	3339	HSPG2	ORPHA:800
HP:0031879	Abnormal eyelid physiology	3208	HPCA	ORPHA:99657
HP:0031879	Abnormal eyelid physiology	3208	HPCA	OMIM:224500
HP:0031879	Abnormal eyelid physiology	1822	ATN1	ORPHA:101
HP:0031879	Abnormal eyelid physiology	84172	POLR1B	ORPHA:861
HP:0031879	Abnormal eyelid physiology	9533	POLR1C	ORPHA:861
HP:0031879	Abnormal eyelid physiology	51082	POLR1D	ORPHA:861
HP:0031879	Abnormal eyelid physiology	6949	TCOF1	ORPHA:861
HP:0031879	Abnormal eyelid physiology	51102	MECR	OMIM:617282
HP:0031879	Abnormal eyelid physiology	56910	STARD7	OMIM:607876
HP:0031879	Abnormal eyelid physiology	11315	PARK7	OMIM:606324
HP:0031879	Abnormal eyelid physiology	79734	KCTD17	OMIM:616398
HP:0031879	Abnormal eyelid physiology	23400	ATP13A2	ORPHA:306674
HP:0031879	Abnormal eyelid physiology	23230	VPS13A	ORPHA:2388
HP:0031879	Abnormal eyelid physiology	16	AARS1	OMIM:616339
HP:0031879	Abnormal eyelid physiology	1644	DDC	OMIM:608643
HP:0031879	Abnormal eyelid physiology	1545	CYP1B1	ORPHA:98976
HP:0031879	Abnormal eyelid physiology	4053	LTBP2	ORPHA:98976
HP:0031879	Abnormal eyelid physiology	4653	MYOC	ORPHA:98976
HP:0031879	Abnormal eyelid physiology	7010	TEK	ORPHA:98976
HP:0031879	Abnormal eyelid physiology	773	CACNA1A	ORPHA:98758
HP:0031879	Abnormal eyelid physiology	1861	TOR1A	OMIM:128100
HP:0031879	Abnormal eyelid physiology	6908	TBP	ORPHA:98759
HP:0031879	Abnormal eyelid physiology	4070	TACSTD2	ORPHA:98957
HP:0031879	Abnormal eyelid physiology	8398	PLA2G6	ORPHA:199351
HP:0031879	Abnormal eyelid physiology	8398	PLA2G6	OMIM:612953
HP:0031879	Abnormal eyelid physiology	8867	SYNJ1	OMIM:615530
HP:0031879	Abnormal eyelid physiology	1180	CLCN1	OMIM:160800
HP:0031879	Abnormal eyelid physiology	1180	CLCN1	OMIM:255700
HP:0009565	Aplasia of the distal phalanx of the 2nd finger	9896	FIG4	OMIM:216340
HP:0009565	Aplasia of the distal phalanx of the 2nd finger	50814	NSDHL	OMIM:308050
HP:0010582	Irregular epiphyses	55325	UFSP2	OMIM:142669
HP:0010582	Irregular epiphyses	59341	TRPV4	OMIM:184252
HP:0010582	Irregular epiphyses	9719	ADAMTSL2	OMIM:231050
HP:0010582	Irregular epiphyses	5830	PEX5	OMIM:616716
HP:0010582	Irregular epiphyses	6137	RPL13	OMIM:618728
HP:0010582	Irregular epiphyses	1301	COL11A1	OMIM:154780
HP:0010582	Irregular epiphyses	990	CDC6	OMIM:613805
HP:0010582	Irregular epiphyses	54928	BPNT2	OMIM:614078
HP:0010582	Irregular epiphyses	1311	COMP	ORPHA:750
HP:0010582	Irregular epiphyses	1311	COMP	OMIM:177170
HP:0010582	Irregular epiphyses	1311	COMP	OMIM:132400
HP:0010582	Irregular epiphyses	4148	MATN3	OMIM:608728
HP:0010582	Irregular epiphyses	4148	MATN3	OMIM:607078
HP:0010582	Irregular epiphyses	64802	NMNAT1	OMIM:619260
HP:0010582	Irregular epiphyses	23387	SIK3	OMIM:618162
HP:0010582	Irregular epiphyses	54808	DYM	OMIM:607326
HP:0010582	Irregular epiphyses	1298	COL9A2	OMIM:600204
HP:0010582	Irregular epiphyses	3835	KIF22	OMIM:603546
HP:0010582	Irregular epiphyses	1836	SLC26A2	OMIM:222600
HP:0010582	Irregular epiphyses	9321	TRIP11	OMIM:184260
HP:0010582	Irregular epiphyses	100151683	RNU4ATAC	OMIM:226960
HP:0010582	Irregular epiphyses	100151683	RNU4ATAC	ORPHA:1824
HP:0010582	Irregular epiphyses	9469	CHST3	ORPHA:263463
HP:0010582	Irregular epiphyses	1299	COL9A3	OMIM:600969
HP:0010582	Irregular epiphyses	1297	COL9A1	OMIM:614135
HP:0010582	Irregular epiphyses	54187	NANS	OMIM:610442
HP:0010582	Irregular epiphyses	6399	TRAPPC2	OMIM:313400
HP:0010582	Irregular epiphyses	176	ACAN	OMIM:612813
HP:0010582	Irregular epiphyses	1280	COL2A1	ORPHA:1856
HP:0005746	Osteosclerosis of the base of the skull	1186	CLCN7	ORPHA:53
HP:0005746	Osteosclerosis of the base of the skull	1186	CLCN7	ORPHA:210110
HP:0005746	Osteosclerosis of the base of the skull	10312	TCIRG1	ORPHA:210110
HP:0005746	Osteosclerosis of the base of the skull	9842	PLEKHM1	ORPHA:210110
HP:0005746	Osteosclerosis of the base of the skull	23516	SLC39A14	OMIM:144755
HP:0005745	Congenital foot contractures	84340	GFM2	ORPHA:565624
HP:0005745	Congenital foot contractures	55906	ZC4H2	ORPHA:3454
HP:0005745	Congenital foot contractures	55906	ZC4H2	OMIM:314580
HP:0040160	Generalized osteoporosis	1277	COL1A1	OMIM:259420
HP:0040160	Generalized osteoporosis	1278	COL1A2	OMIM:259420
HP:0040160	Generalized osteoporosis	1280	COL2A1	OMIM:608805
HP:0040160	Generalized osteoporosis	9469	CHST3	OMIM:245600
HP:0040160	Generalized osteoporosis	26229	B3GAT3	OMIM:245600
HP:0040160	Generalized osteoporosis	26137	ZBTB20	OMIM:259050
HP:0040160	Generalized osteoporosis	6772	STAT1	ORPHA:391487
HP:0040160	Generalized osteoporosis	59341	TRPV4	OMIM:184095
HP:0040160	Generalized osteoporosis	8838	CCN6	ORPHA:1159
HP:0040160	Generalized osteoporosis	55603	TENT5A	OMIM:617952
HP:0040160	Generalized osteoporosis	23314	SATB2	OMIM:612313
HP:0040160	Generalized osteoporosis	875	CBS	OMIM:236200
HP:0040160	Generalized osteoporosis	4221	MEN1	ORPHA:99879
HP:0040160	Generalized osteoporosis	9247	GCM2	ORPHA:99879
HP:0040160	Generalized osteoporosis	79577	CDC73	ORPHA:99879
HP:0040160	Generalized osteoporosis	4000	LMNA	OMIM:176670
HP:0040160	Generalized osteoporosis	121340	SP7	OMIM:613849
HP:0040160	Generalized osteoporosis	4323	MMP14	OMIM:277950
HP:0040160	Generalized osteoporosis	79158	GNPTAB	ORPHA:423461
HP:0005743	Avascular necrosis of the capital femoral epiphysis	538	ATP7A	ORPHA:198
HP:0005743	Avascular necrosis of the capital femoral epiphysis	55898	UNC45A	OMIM:619377
HP:0005743	Avascular necrosis of the capital femoral epiphysis	26277	TINF2	OMIM:613990
HP:0005743	Avascular necrosis of the capital femoral epiphysis	91754	NEK9	OMIM:614262
HP:0005743	Avascular necrosis of the capital femoral epiphysis	9652	SKIC3	OMIM:222470
HP:0005743	Avascular necrosis of the capital femoral epiphysis	1857	DVL3	ORPHA:3107
HP:0005743	Avascular necrosis of the capital femoral epiphysis	7474	WNT5A	ORPHA:3107
HP:0005743	Avascular necrosis of the capital femoral epiphysis	1855	DVL1	ORPHA:3107
HP:0005743	Avascular necrosis of the capital femoral epiphysis	2535	FZD2	ORPHA:3107
HP:0005743	Avascular necrosis of the capital femoral epiphysis	1387	CREBBP	ORPHA:353277
HP:0005743	Avascular necrosis of the capital femoral epiphysis	1387	CREBBP	ORPHA:353281
HP:0005743	Avascular necrosis of the capital femoral epiphysis	2335	FN1	ORPHA:93315
HP:0005743	Avascular necrosis of the capital femoral epiphysis	1280	COL2A1	ORPHA:93315
HP:0005743	Avascular necrosis of the capital femoral epiphysis	1280	COL2A1	OMIM:608805
HP:0005743	Avascular necrosis of the capital femoral epiphysis	1280	COL2A1	OMIM:150600
HP:0005743	Avascular necrosis of the capital femoral epiphysis	81031	SLC2A10	ORPHA:3342
HP:0005743	Avascular necrosis of the capital femoral epiphysis	9719	ADAMTSL2	ORPHA:1901
HP:0005743	Avascular necrosis of the capital femoral epiphysis	9509	ADAMTS2	ORPHA:1901
HP:0005743	Avascular necrosis of the capital femoral epiphysis	4796	TONSL	ORPHA:93357
HP:0005743	Avascular necrosis of the capital femoral epiphysis	4148	MATN3	ORPHA:93311
HP:0005743	Avascular necrosis of the capital femoral epiphysis	2131	EXT1	ORPHA:502
HP:0005743	Avascular necrosis of the capital femoral epiphysis	5885	RAD21	ORPHA:502
HP:0005743	Avascular necrosis of the capital femoral epiphysis	7227	TRPS1	ORPHA:502
HP:0005743	Avascular necrosis of the capital femoral epiphysis	7227	TRPS1	OMIM:190350
HP:0005743	Avascular necrosis of the capital femoral epiphysis	7227	TRPS1	OMIM:190351
HP:0005743	Avascular necrosis of the capital femoral epiphysis	7227	TRPS1	ORPHA:77258
HP:0005743	Avascular necrosis of the capital femoral epiphysis	55325	UFSP2	OMIM:142669
HP:0005743	Avascular necrosis of the capital femoral epiphysis	11277	TREX1	ORPHA:247691
HP:0005743	Avascular necrosis of the capital femoral epiphysis	59341	TRPV4	OMIM:617383
HP:0005743	Avascular necrosis of the capital femoral epiphysis	1311	COMP	OMIM:132400
HP:0005743	Avascular necrosis of the capital femoral epiphysis	1311	COMP	ORPHA:93308
HP:0005743	Avascular necrosis of the capital femoral epiphysis	2033	EP300	ORPHA:353284
HP:0005743	Avascular necrosis of the capital femoral epiphysis	10847	SRCAP	ORPHA:2044
HP:0005743	Avascular necrosis of the capital femoral epiphysis	25782	RAB3GAP2	OMIM:212720
HP:0005743	Avascular necrosis of the capital femoral epiphysis	64374	SIL1	ORPHA:559
HP:0005743	Avascular necrosis of the capital femoral epiphysis	1278	COL1A2	ORPHA:1899
HP:0005743	Avascular necrosis of the capital femoral epiphysis	1277	COL1A1	ORPHA:1899
HP:0003799	Marked delay in bone age	2099	ESR1	ORPHA:785
HP:0003799	Marked delay in bone age	89884	LHX4	OMIM:262700
HP:0031882	Agyria	7846	TUBA1A	ORPHA:171680
HP:0031882	Agyria	7846	TUBA1A	ORPHA:467166
HP:0031882	Agyria	7846	TUBA1A	OMIM:611603
HP:0031882	Agyria	347733	TUBB2B	ORPHA:467166
HP:0031882	Agyria	10381	TUBB3	ORPHA:467166
HP:0031882	Agyria	1641	DCX	OMIM:300067
HP:0031882	Agyria	1641	DCX	ORPHA:2148
HP:0031882	Agyria	387119	CEP85L	OMIM:618873
HP:0031882	Agyria	1020	CDK5	OMIM:616342
HP:0031882	Agyria	160418	TMTC3	OMIM:617255
HP:0031882	Agyria	79147	FKRP	OMIM:613153
HP:0031882	Agyria	79147	FKRP	OMIM:236670
HP:0031882	Agyria	7283	TUBG1	OMIM:615412
HP:0031882	Agyria	729920	CRPPA	OMIM:614643
HP:0031882	Agyria	3796	KIF2A	OMIM:615411
HP:0031882	Agyria	1605	DAG1	OMIM:616538
HP:0031882	Agyria	1605	DAG1	ORPHA:370997
HP:0031882	Agyria	84197	POMK	OMIM:615249
HP:0031882	Agyria	5048	PAFAH1B1	OMIM:607432
HP:0031882	Agyria	5048	PAFAH1B1	ORPHA:95232
HP:0031882	Agyria	2218	FKTN	OMIM:253800
HP:0031882	Agyria	2218	FKTN	OMIM:236670
HP:0031882	Agyria	29954	POMT2	OMIM:236670
HP:0031882	Agyria	10585	POMT1	OMIM:236670
HP:0031882	Agyria	9215	LARGE1	OMIM:236670
HP:0031883	Increased proinsulin:insulin ratio	5080	PAX6	OMIM:106210
HP:0031883	Increased proinsulin:insulin ratio	7490	WT1	OMIM:106210
HP:0031884	Abnormal CSF glucose concentration	6513	SLC2A1	OMIM:612126
HP:0031884	Abnormal CSF glucose concentration	6513	SLC2A1	OMIM:606777
HP:0031884	Abnormal CSF glucose concentration	6513	SLC2A1	OMIM:608885
HP:0031884	Abnormal CSF glucose concentration	6513	SLC2A1	ORPHA:168577
HP:0031884	Abnormal CSF glucose concentration	6513	SLC2A1	ORPHA:71277
HP:0031884	Abnormal CSF glucose concentration	7187	TRAF3	ORPHA:1930
HP:0031884	Abnormal CSF glucose concentration	81622	UNC93B1	ORPHA:1930
HP:0031884	Abnormal CSF glucose concentration	148022	TICAM1	ORPHA:1930
HP:0031884	Abnormal CSF glucose concentration	7098	TLR3	ORPHA:1930
HP:0031884	Abnormal CSF glucose concentration	29110	TBK1	ORPHA:1930
HP:0031886	Abnormal LDL cholesterol concentration	3949	LDLR	ORPHA:391665
HP:0031886	Abnormal LDL cholesterol concentration	3949	LDLR	OMIM:143890
HP:0031886	Abnormal LDL cholesterol concentration	26119	LDLRAP1	ORPHA:391665
HP:0031886	Abnormal LDL cholesterol concentration	338	APOB	ORPHA:391665
HP:0031886	Abnormal LDL cholesterol concentration	338	APOB	OMIM:144010
HP:0031886	Abnormal LDL cholesterol concentration	64240	ABCG5	ORPHA:391665
HP:0031886	Abnormal LDL cholesterol concentration	64241	ABCG8	ORPHA:391665
HP:0031886	Abnormal LDL cholesterol concentration	9056	SLC7A7	ORPHA:470
HP:0031886	Abnormal LDL cholesterol concentration	6609	SMPD1	ORPHA:77293
HP:0031886	Abnormal LDL cholesterol concentration	6609	SMPD1	OMIM:607616
HP:0031886	Abnormal LDL cholesterol concentration	63036	CELA2A	OMIM:618620
HP:0031886	Abnormal LDL cholesterol concentration	213	ALB	OMIM:616000
HP:0031886	Abnormal LDL cholesterol concentration	3988	LIPA	OMIM:278000
HP:0031886	Abnormal LDL cholesterol concentration	336	APOA2	OMIM:143890
HP:0031886	Abnormal LDL cholesterol concentration	2053	EPHX2	OMIM:143890
HP:0031886	Abnormal LDL cholesterol concentration	10842	PPP1R17	OMIM:143890
HP:0031886	Abnormal LDL cholesterol concentration	2690	GHR	OMIM:143890
HP:0031886	Abnormal LDL cholesterol concentration	9149	DYRK1B	OMIM:615812
HP:0031886	Abnormal LDL cholesterol concentration	147007	TMEM199	OMIM:616829
HP:0031886	Abnormal LDL cholesterol concentration	84317	CCDC115	OMIM:616828
HP:0031886	Abnormal LDL cholesterol concentration	2273	FHL1	ORPHA:98863
HP:0031886	Abnormal LDL cholesterol concentration	2010	EMD	ORPHA:98863
HP:0031886	Abnormal LDL cholesterol concentration	20	ABCA2	OMIM:618808
HP:0031886	Abnormal LDL cholesterol concentration	1581	CYP7A1	ORPHA:209902
HP:0031886	Abnormal LDL cholesterol concentration	4040	LRP6	OMIM:610947
HP:0031886	Abnormal LDL cholesterol concentration	3931	LCAT	OMIM:136120
HP:0031886	Abnormal LDL cholesterol concentration	4000	LMNA	OMIM:151660
HP:0031886	Abnormal LDL cholesterol concentration	4000	LMNA	OMIM:616516
HP:0031886	Abnormal LDL cholesterol concentration	4000	LMNA	ORPHA:98855
HP:0031886	Abnormal LDL cholesterol concentration	4000	LMNA	ORPHA:98853
HP:0031886	Abnormal LDL cholesterol concentration	84984	CEP19	OMIM:615703
HP:0031886	Abnormal LDL cholesterol concentration	10165	SLC25A13	ORPHA:247598
HP:0031886	Abnormal LDL cholesterol concentration	4023	LPL	OMIM:144250
HP:0031886	Abnormal LDL cholesterol concentration	7274	TTPA	OMIM:277460
HP:0031886	Abnormal LDL cholesterol concentration	348	APOE	ORPHA:412
HP:0031886	Abnormal LDL cholesterol concentration	79188	TMEM43	ORPHA:98853
HP:0031886	Abnormal LDL cholesterol concentration	23345	SYNE1	ORPHA:98853
HP:0031886	Abnormal LDL cholesterol concentration	23224	SYNE2	ORPHA:98853
HP:0031886	Abnormal LDL cholesterol concentration	27329	ANGPTL3	OMIM:605019
HP:0031886	Abnormal LDL cholesterol concentration	51128	SAR1B	OMIM:246700
HP:0031886	Abnormal LDL cholesterol concentration	4547	MTTP	ORPHA:14
HP:0031886	Abnormal LDL cholesterol concentration	2222	FDFT1	OMIM:618156
HP:0031886	Abnormal LDL cholesterol concentration	116519	APOA5	OMIM:144650
HP:0031886	Abnormal LDL cholesterol concentration	6307	MSMO1	OMIM:616834
HP:0031886	Abnormal LDL cholesterol concentration	345	APOC3	OMIM:614028
HP:0031886	Abnormal LDL cholesterol concentration	29929	ALG6	ORPHA:79320
HP:0031886	Abnormal LDL cholesterol concentration	55768	NGLY1	ORPHA:404454
HP:0031886	Abnormal LDL cholesterol concentration	2683	B4GALT1	OMIM:620364
HP:0031886	Abnormal LDL cholesterol concentration	2683	B4GALT1	ORPHA:79332
HP:0031886	Abnormal LDL cholesterol concentration	338328	GPIHBP1	OMIM:615947
HP:0031886	Abnormal LDL cholesterol concentration	255738	PCSK9	OMIM:603776
HP:0031887	Abnormal chylomicron concentration	344	APOC2	OMIM:207750
HP:0031887	Abnormal chylomicron concentration	116519	APOA5	OMIM:144650
HP:0031887	Abnormal chylomicron concentration	338328	GPIHBP1	OMIM:615947
HP:0031887	Abnormal chylomicron concentration	4023	LPL	OMIM:238600
HP:0031888	Abnormal HDL cholesterol concentration	4000	LMNA	ORPHA:280365
HP:0031888	Abnormal HDL cholesterol concentration	4000	LMNA	OMIM:151660
HP:0031888	Abnormal HDL cholesterol concentration	9056	SLC7A7	ORPHA:470
HP:0031888	Abnormal HDL cholesterol concentration	92482	BBIP1	ORPHA:110
HP:0031888	Abnormal HDL cholesterol concentration	80184	CEP290	ORPHA:110
HP:0031888	Abnormal HDL cholesterol concentration	11020	IFT27	ORPHA:110
HP:0031888	Abnormal HDL cholesterol concentration	582	BBS1	ORPHA:110
HP:0031888	Abnormal HDL cholesterol concentration	49855	SCAPER	ORPHA:110
HP:0031888	Abnormal HDL cholesterol concentration	4867	NPHP1	ORPHA:110
HP:0031888	Abnormal HDL cholesterol concentration	51057	WDPCP	ORPHA:110
HP:0031888	Abnormal HDL cholesterol concentration	132320	SCLT1	ORPHA:110
HP:0031888	Abnormal HDL cholesterol concentration	27241	BBS9	ORPHA:110
HP:0031888	Abnormal HDL cholesterol concentration	84984	CEP19	ORPHA:110
HP:0031888	Abnormal HDL cholesterol concentration	84984	CEP19	OMIM:615703
HP:0031888	Abnormal HDL cholesterol concentration	22954	TRIM32	ORPHA:110
HP:0031888	Abnormal HDL cholesterol concentration	54903	MKS1	ORPHA:110
HP:0031888	Abnormal HDL cholesterol concentration	79738	BBS10	ORPHA:110
HP:0031888	Abnormal HDL cholesterol concentration	123016	TTC8	ORPHA:110
HP:0031888	Abnormal HDL cholesterol concentration	26160	IFT172	ORPHA:110
HP:0031888	Abnormal HDL cholesterol concentration	583	BBS2	ORPHA:110
HP:0031888	Abnormal HDL cholesterol concentration	585	BBS4	ORPHA:110
HP:0031888	Abnormal HDL cholesterol concentration	8195	MKKS	ORPHA:110
HP:0031888	Abnormal HDL cholesterol concentration	54585	LZTFL1	ORPHA:110
HP:0031888	Abnormal HDL cholesterol concentration	55212	BBS7	ORPHA:110
HP:0031888	Abnormal HDL cholesterol concentration	166379	BBS12	ORPHA:110
HP:0031888	Abnormal HDL cholesterol concentration	10806	SDCCAG8	ORPHA:110
HP:0031888	Abnormal HDL cholesterol concentration	157657	CFAP418	ORPHA:110
HP:0031888	Abnormal HDL cholesterol concentration	84100	ARL6	ORPHA:110
HP:0031888	Abnormal HDL cholesterol concentration	129880	BBS5	ORPHA:110
HP:0031888	Abnormal HDL cholesterol concentration	80173	IFT74	ORPHA:110
HP:0031888	Abnormal HDL cholesterol concentration	6609	SMPD1	ORPHA:77293
HP:0031888	Abnormal HDL cholesterol concentration	6609	SMPD1	OMIM:607616
HP:0031888	Abnormal HDL cholesterol concentration	63036	CELA2A	OMIM:618620
HP:0031888	Abnormal HDL cholesterol concentration	2590	GALNT2	OMIM:618885
HP:0031888	Abnormal HDL cholesterol concentration	335	APOA1	OMIM:618463
HP:0031888	Abnormal HDL cholesterol concentration	335	APOA1	OMIM:619836
HP:0031888	Abnormal HDL cholesterol concentration	335	APOA1	ORPHA:425
HP:0031888	Abnormal HDL cholesterol concentration	335	APOA1	OMIM:620657
HP:0031888	Abnormal HDL cholesterol concentration	3988	LIPA	OMIM:278000
HP:0031888	Abnormal HDL cholesterol concentration	19	ABCA1	OMIM:604091
HP:0031888	Abnormal HDL cholesterol concentration	19	ABCA1	OMIM:205400
HP:0031888	Abnormal HDL cholesterol concentration	19	ABCA1	ORPHA:425
HP:0031888	Abnormal HDL cholesterol concentration	10165	SLC25A13	ORPHA:247585
HP:0031888	Abnormal HDL cholesterol concentration	10165	SLC25A13	OMIM:605814
HP:0031888	Abnormal HDL cholesterol concentration	10165	SLC25A13	ORPHA:247598
HP:0031888	Abnormal HDL cholesterol concentration	338	APOB	OMIM:615558
HP:0031888	Abnormal HDL cholesterol concentration	7840	ALMS1	OMIM:203800
HP:0031888	Abnormal HDL cholesterol concentration	11145	PLAAT3	OMIM:620683
HP:0031888	Abnormal HDL cholesterol concentration	83550	GPR101	ORPHA:963
HP:0031888	Abnormal HDL cholesterol concentration	9049	AIP	ORPHA:963
HP:0031888	Abnormal HDL cholesterol concentration	100033413	SNORD116-1	OMIM:176270
HP:0031888	Abnormal HDL cholesterol concentration	8924	HERC2	OMIM:176270
HP:0031888	Abnormal HDL cholesterol concentration	23742	NPAP1	OMIM:176270
HP:0031888	Abnormal HDL cholesterol concentration	338433	SNORD115-1	OMIM:176270
HP:0031888	Abnormal HDL cholesterol concentration	54551	MAGEL2	OMIM:176270
HP:0031888	Abnormal HDL cholesterol concentration	7681	MKRN3	OMIM:176270
HP:0031888	Abnormal HDL cholesterol concentration	145624	PWAR1	OMIM:176270
HP:0031888	Abnormal HDL cholesterol concentration	3653	IPW	OMIM:176270
HP:0031888	Abnormal HDL cholesterol concentration	791114	PWRN1	OMIM:176270
HP:0031888	Abnormal HDL cholesterol concentration	5130	PCYT1A	OMIM:620680
HP:0031888	Abnormal HDL cholesterol concentration	4547	MTTP	ORPHA:14
HP:0031888	Abnormal HDL cholesterol concentration	3931	LCAT	OMIM:245900
HP:0031888	Abnormal HDL cholesterol concentration	3931	LCAT	OMIM:136120
HP:0031888	Abnormal HDL cholesterol concentration	3931	LCAT	ORPHA:79292
HP:0031888	Abnormal HDL cholesterol concentration	5468	PPARG	OMIM:604367
HP:0031888	Abnormal HDL cholesterol concentration	84699	CREB3L3	OMIM:619324
HP:0031888	Abnormal HDL cholesterol concentration	116519	APOA5	OMIM:144650
HP:0031888	Abnormal HDL cholesterol concentration	6307	MSMO1	OMIM:616834
HP:0031888	Abnormal HDL cholesterol concentration	5696	PSMB8	OMIM:256040
HP:0031888	Abnormal HDL cholesterol concentration	338328	GPIHBP1	OMIM:615947
HP:0031888	Abnormal HDL cholesterol concentration	348	APOE	ORPHA:412
HP:0031888	Abnormal HDL cholesterol concentration	2629	GBA1	ORPHA:77259
HP:0031888	Abnormal HDL cholesterol concentration	950	SCARB2	ORPHA:77259
HP:0031888	Abnormal HDL cholesterol concentration	3990	LIPC	OMIM:614025
HP:0031888	Abnormal HDL cholesterol concentration	3990	LIPC	ORPHA:140905
HP:0031888	Abnormal HDL cholesterol concentration	345	APOC3	OMIM:614028
HP:0031888	Abnormal HDL cholesterol concentration	1071	CETP	OMIM:143470
HP:0031889	Abnormal VLDL cholesterol concentration	116519	APOA5	OMIM:145750
HP:0031889	Abnormal VLDL cholesterol concentration	116519	APOA5	OMIM:144650
HP:0031889	Abnormal VLDL cholesterol concentration	3931	LCAT	OMIM:136120
HP:0031889	Abnormal VLDL cholesterol concentration	197131	UBR1	OMIM:243800
HP:0031889	Abnormal VLDL cholesterol concentration	4023	LPL	OMIM:144250
HP:0009622	Distally placed thumb	6910	TBX5	OMIM:142900
HP:0010743	Short metatarsal	3094	HINT1	ORPHA:324442
HP:0010743	Short metatarsal	9759	HDAC4	OMIM:600430
HP:0010743	Short metatarsal	9578	CDC42BPB	OMIM:619841
HP:0010743	Short metatarsal	5191	PEX7	OMIM:266500
HP:0010743	Short metatarsal	5264	PHYH	OMIM:266500
HP:0010743	Short metatarsal	94005	PIGS	OMIM:618143
HP:0010743	Short metatarsal	341208	HEPHL1	OMIM:261990
HP:0010743	Short metatarsal	89970	RSPRY1	ORPHA:457395
HP:0010743	Short metatarsal	89970	RSPRY1	OMIM:616723
HP:0010743	Short metatarsal	54585	LZTFL1	OMIM:615994
HP:0010743	Short metatarsal	55628	ZNF407	OMIM:619557
HP:0010743	Short metatarsal	2146	EZH2	OMIM:277590
HP:0010743	Short metatarsal	79633	FAT4	OMIM:615546
HP:0010743	Short metatarsal	3708	ITPR1	OMIM:206700
HP:0010743	Short metatarsal	8642	DCHS1	OMIM:601390
HP:0010743	Short metatarsal	90459	ERI1	OMIM:620662
HP:0010743	Short metatarsal	54101	RIPK4	ORPHA:1401
HP:0010743	Short metatarsal	23288	IQCE	OMIM:617642
HP:0010743	Short metatarsal	2033	EP300	OMIM:613684
HP:0010743	Short metatarsal	3209	HOXA13	OMIM:140000
HP:0010743	Short metatarsal	3209	HOXA13	ORPHA:2438
HP:0010743	Short metatarsal	57020	VPS35L	OMIM:619135
HP:0010743	Short metatarsal	1280	COL2A1	OMIM:271700
HP:0010743	Short metatarsal	1280	COL2A1	OMIM:609162
HP:0010743	Short metatarsal	1280	COL2A1	ORPHA:1856
HP:0010743	Short metatarsal	5573	PRKAR1A	ORPHA:950
HP:0010743	Short metatarsal	5573	PRKAR1A	OMIM:101800
HP:0010743	Short metatarsal	5144	PDE4D	ORPHA:950
HP:0010743	Short metatarsal	5144	PDE4D	ORPHA:439822
HP:0010743	Short metatarsal	5144	PDE4D	OMIM:614613
HP:0010743	Short metatarsal	64374	SIL1	OMIM:248800
HP:0010743	Short metatarsal	64840	PORCN	OMIM:305600
HP:0010743	Short metatarsal	4882	NPR2	OMIM:602875
HP:0010743	Short metatarsal	145173	B3GLCT	OMIM:261540
HP:0010743	Short metatarsal	6885	MAP3K7	OMIM:617137
HP:0010743	Short metatarsal	6885	MAP3K7	ORPHA:1826
HP:0010743	Short metatarsal	5593	PRKG2	OMIM:619636
HP:0010743	Short metatarsal	253738	EBF3	ORPHA:96148
HP:0010743	Short metatarsal	59341	TRPV4	ORPHA:93314
HP:0010743	Short metatarsal	6925	TCF4	ORPHA:2896
HP:0010743	Short metatarsal	25839	COG4	OMIM:618150
HP:0010743	Short metatarsal	2200	FBN1	OMIM:608328
HP:0010743	Short metatarsal	6299	SALL1	OMIM:107480
HP:0010743	Short metatarsal	8200	GDF5	OMIM:228900
HP:0010743	Short metatarsal	8200	GDF5	ORPHA:93384
HP:0010743	Short metatarsal	5744	PTHLH	OMIM:613382
HP:0010743	Short metatarsal	5744	PTHLH	ORPHA:93387
HP:0010743	Short metatarsal	51098	IFT52	OMIM:617102
HP:0010743	Short metatarsal	1836	SLC26A2	ORPHA:93307
HP:0010743	Short metatarsal	3239	HOXD13	ORPHA:93387
HP:0010743	Short metatarsal	3239	HOXD13	OMIM:113300
HP:0010743	Short metatarsal	658	BMPR1B	ORPHA:93384
HP:0010743	Short metatarsal	2316	FLNA	OMIM:304120
HP:0010743	Short metatarsal	2316	FLNA	ORPHA:1826
HP:0010743	Short metatarsal	124583	CANT1	OMIM:251450
HP:0010743	Short metatarsal	54808	DYM	OMIM:223800
HP:0010743	Short metatarsal	54496	PRMT7	OMIM:617157
HP:0010743	Short metatarsal	2778	GNAS	OMIM:612463
HP:0010743	Short metatarsal	2778	GNAS	OMIM:612462
HP:0010743	Short metatarsal	2778	GNAS	ORPHA:79443
HP:0010743	Short metatarsal	2778	GNAS	ORPHA:79444
HP:0010743	Short metatarsal	2778	GNAS	ORPHA:79445
HP:0010743	Short metatarsal	2778	GNAS	OMIM:103580
HP:0010743	Short metatarsal	2260	FGFR1	OMIM:166250
HP:0010743	Short metatarsal	2263	FGFR2	ORPHA:1540
HP:0010743	Short metatarsal	3759	KCNJ2	OMIM:170390
HP:0010743	Short metatarsal	22856	CHSY1	OMIM:605282
HP:0010743	Short metatarsal	2317	FLNB	OMIM:108720
HP:0010743	Short metatarsal	2317	FLNB	OMIM:150250
HP:0010743	Short metatarsal	157680	VPS13B	OMIM:216550
HP:0010743	Short metatarsal	9896	FIG4	OMIM:216340
HP:0010743	Short metatarsal	6595	SMARCA2	OMIM:601358
HP:0010743	Short metatarsal	9742	IFT140	OMIM:266920
HP:0010743	Short metatarsal	83452	RAB33B	OMIM:615222
HP:0010743	Short metatarsal	6736	SRY	ORPHA:1772
HP:0010743	Short metatarsal	7227	TRPS1	OMIM:190350
HP:0010743	Short metatarsal	7227	TRPS1	OMIM:190351
HP:0010743	Short metatarsal	7227	TRPS1	ORPHA:77258
HP:0010743	Short metatarsal	90417	KNSTRN	OMIM:613328
HP:0010743	Short metatarsal	5293	PIK3CD	OMIM:613328
HP:0010743	Short metatarsal	25886	POC1A	OMIM:614813
HP:0010743	Short metatarsal	3516	RBPJ	OMIM:614814
HP:0002983	Micromelia	2261	FGFR3	OMIM:187601
HP:0002983	Micromelia	2261	FGFR3	ORPHA:93274
HP:0002983	Micromelia	2261	FGFR3	ORPHA:429
HP:0002983	Micromelia	2261	FGFR3	ORPHA:1860
HP:0002983	Micromelia	5573	PRKAR1A	ORPHA:950
HP:0002983	Micromelia	5144	PDE4D	ORPHA:950
HP:0002983	Micromelia	4921	DDR2	OMIM:271665
HP:0002983	Micromelia	176	ACAN	ORPHA:93283
HP:0002983	Micromelia	65992	DDRGK1	OMIM:602557
HP:0002983	Micromelia	28981	IFT81	OMIM:617895
HP:0002983	Micromelia	100151683	RNU4ATAC	OMIM:210710
HP:0002983	Micromelia	100151683	RNU4ATAC	ORPHA:2636
HP:0002983	Micromelia	9820	CUL7	ORPHA:2616
HP:0002983	Micromelia	23363	OBSL1	ORPHA:2616
HP:0002983	Micromelia	83987	CCDC8	ORPHA:2616
HP:0002983	Micromelia	145173	B3GLCT	ORPHA:709
HP:0002983	Micromelia	118429	ANTXR2	ORPHA:2176
HP:0002983	Micromelia	55733	HHAT	OMIM:600092
HP:0002983	Micromelia	55733	HHAT	ORPHA:1422
HP:0002983	Micromelia	3636	INPPL1	ORPHA:3144
HP:0002983	Micromelia	23169	SLC35D1	ORPHA:3144
HP:0002983	Micromelia	5745	PTH1R	OMIM:215045
HP:0002983	Micromelia	5745	PTH1R	ORPHA:296
HP:0002983	Micromelia	1836	SLC26A2	ORPHA:56304
HP:0002983	Micromelia	1836	SLC26A2	OMIM:600972
HP:0002983	Micromelia	1836	SLC26A2	ORPHA:628
HP:0002983	Micromelia	1836	SLC26A2	OMIM:256050
HP:0002983	Micromelia	1836	SLC26A2	ORPHA:93298
HP:0002983	Micromelia	55112	DYNC2I1	ORPHA:93271
HP:0002983	Micromelia	55112	DYNC2I1	ORPHA:474
HP:0002983	Micromelia	57560	IFT80	ORPHA:93271
HP:0002983	Micromelia	57560	IFT80	ORPHA:474
HP:0002983	Micromelia	57539	WDR35	ORPHA:93271
HP:0002983	Micromelia	57539	WDR35	OMIM:614091
HP:0002983	Micromelia	79659	DYNC2H1	ORPHA:93271
HP:0002983	Micromelia	79659	DYNC2H1	ORPHA:474
HP:0002983	Micromelia	89891	DYNC2I2	ORPHA:93271
HP:0002983	Micromelia	89891	DYNC2I2	ORPHA:474
HP:0002983	Micromelia	249	ALPL	OMIM:241500
HP:0002983	Micromelia	55790	CSGALNACT1	OMIM:618870
HP:0002983	Micromelia	22858	CILK1	OMIM:612651
HP:0002983	Micromelia	10225	CD96	OMIM:211750
HP:0002983	Micromelia	10225	CD96	ORPHA:1308
HP:0002983	Micromelia	4038	LRP4	ORPHA:3258
HP:0002983	Micromelia	324	APC	ORPHA:3258
HP:0002983	Micromelia	56975	FAM20C	OMIM:259775
HP:0002983	Micromelia	2263	FGFR2	ORPHA:87
HP:0002983	Micromelia	3418	IDH2	ORPHA:296
HP:0002983	Micromelia	3417	IDH1	ORPHA:296
HP:0002983	Micromelia	6023	RMRP	ORPHA:175
HP:0002983	Micromelia	4318	MMP9	OMIM:613073
HP:0002983	Micromelia	3549	IHH	ORPHA:63446
HP:0002983	Micromelia	3549	IHH	OMIM:607778
HP:0002983	Micromelia	3339	HSPG2	ORPHA:1865
HP:0002983	Micromelia	3339	HSPG2	OMIM:224410
HP:0002983	Micromelia	3339	HSPG2	OMIM:255800
HP:0002983	Micromelia	3339	HSPG2	ORPHA:800
HP:0002983	Micromelia	60	ACTB	ORPHA:79107
HP:0002983	Micromelia	60	ACTB	ORPHA:64755
HP:0002983	Micromelia	22827	PUF60	ORPHA:508488
HP:0002983	Micromelia	1717	DHCR7	OMIM:270400
HP:0002983	Micromelia	5566	PRKACA	ORPHA:289
HP:0002983	Micromelia	5567	PRKACB	ORPHA:289
HP:0002983	Micromelia	2735	GLI1	ORPHA:289
HP:0002983	Micromelia	2121	EVC	ORPHA:289
HP:0002983	Micromelia	51626	DYNC2LI1	ORPHA:289
HP:0002983	Micromelia	51626	DYNC2LI1	ORPHA:474
HP:0002983	Micromelia	132884	EVC2	ORPHA:289
HP:0002983	Micromelia	2752	GLUL	OMIM:610015
HP:0002983	Micromelia	1301	COL11A1	ORPHA:2021
HP:0002983	Micromelia	1301	COL11A1	ORPHA:440354
HP:0002983	Micromelia	1302	COL11A2	ORPHA:2021
HP:0002983	Micromelia	29980	DONSON	OMIM:251230
HP:0002983	Micromelia	26227	PHGDH	OMIM:256520
HP:0002983	Micromelia	23476	BRD4	ORPHA:199
HP:0002983	Micromelia	9126	SMC3	ORPHA:199
HP:0002983	Micromelia	8243	SMC1A	ORPHA:199
HP:0002983	Micromelia	6878	TAF6	ORPHA:199
HP:0002983	Micromelia	25836	NIPBL	ORPHA:199
HP:0002983	Micromelia	25836	NIPBL	OMIM:122470
HP:0002983	Micromelia	55869	HDAC8	ORPHA:199
HP:0002983	Micromelia	5885	RAD21	ORPHA:199
HP:0002983	Micromelia	9851	KIAA0753	ORPHA:474
HP:0002983	Micromelia	26160	IFT172	ORPHA:474
HP:0002983	Micromelia	153241	CEP120	ORPHA:474
HP:0002983	Micromelia	9742	IFT140	ORPHA:474
HP:0002983	Micromelia	57728	WDR19	ORPHA:474
HP:0002983	Micromelia	79809	TTC21B	ORPHA:474
HP:0002983	Micromelia	9321	TRIP11	ORPHA:166272
HP:0002983	Micromelia	9321	TRIP11	OMIM:184260
HP:0002983	Micromelia	9321	TRIP11	OMIM:200600
HP:0002983	Micromelia	9321	TRIP11	ORPHA:93299
HP:0002983	Micromelia	1280	COL2A1	OMIM:151210
HP:0002983	Micromelia	1280	COL2A1	ORPHA:85166
HP:0002983	Micromelia	1280	COL2A1	ORPHA:93296
HP:0002983	Micromelia	1857	DVL3	ORPHA:3107
HP:0002983	Micromelia	7474	WNT5A	ORPHA:3107
HP:0002983	Micromelia	1855	DVL1	ORPHA:3107
HP:0002983	Micromelia	2535	FZD2	ORPHA:3107
HP:0002983	Micromelia	6608	SMO	OMIM:241800
HP:0002983	Micromelia	8200	GDF5	ORPHA:2098
HP:0002983	Micromelia	8200	GDF5	ORPHA:2639
HP:0002983	Micromelia	658	BMPR1B	ORPHA:2098
HP:0002983	Micromelia	658	BMPR1B	ORPHA:2639
HP:0002983	Micromelia	4148	MATN3	OMIM:608728
HP:0002983	Micromelia	1718	DHCR24	ORPHA:35107
HP:0002983	Micromelia	112752	IFT43	OMIM:617866
HP:0002983	Micromelia	1806	DPYD	ORPHA:1675
HP:0002983	Micromelia	1028	CDKN1C	ORPHA:85173
HP:0002983	Micromelia	5426	POLE	ORPHA:85173
HP:0002983	Micromelia	3930	LBR	OMIM:215140
HP:0002983	Micromelia	3930	LBR	ORPHA:1426
HP:0002983	Micromelia	9786	KIAA0586	OMIM:616546
HP:0002983	Micromelia	3977	LIFR	ORPHA:3206
HP:0002983	Micromelia	59341	TRPV4	ORPHA:2635
HP:0002983	Micromelia	10491	CRTAP	OMIM:610682
HP:0002983	Micromelia	7476	WNT7A	ORPHA:2879
HP:0002983	Micromelia	5116	PCNT	ORPHA:2637
HP:0002983	Micromelia	51594	NBAS	OMIM:614800
HP:0002983	Micromelia	2317	FLNB	ORPHA:1263
HP:0002983	Micromelia	26123	TCTN3	ORPHA:2753
HP:0002983	Micromelia	6473	SHOX	ORPHA:2632
HP:0002983	Micromelia	6473	SHOX	ORPHA:240
HP:0002983	Micromelia	10082	GPC6	ORPHA:93329
HP:0002983	Micromelia	51025	PAM16	OMIM:613320
HP:0002983	Micromelia	219844	HYLS1	ORPHA:2189
HP:0002983	Micromelia	374654	KIF7	ORPHA:2189
HP:0002983	Micromelia	871	SERPINH1	OMIM:613848
HP:0005487	Prominent metopic ridge	3192	HNRNPU	ORPHA:238769
HP:0005487	Prominent metopic ridge	58499	ZNF462	ORPHA:502430
HP:0005487	Prominent metopic ridge	58499	ZNF462	OMIM:618619
HP:0005487	Prominent metopic ridge	158	ADSL	OMIM:103050
HP:0005487	Prominent metopic ridge	158	ADSL	ORPHA:46
HP:0005487	Prominent metopic ridge	5518	PPP2R1A	OMIM:616362
HP:0005487	Prominent metopic ridge	5518	PPP2R1A	ORPHA:457284
HP:0005487	Prominent metopic ridge	26235	FBXL4	OMIM:615471
HP:0005487	Prominent metopic ridge	6309	SC5D	ORPHA:46059
HP:0005487	Prominent metopic ridge	104	ADARB1	OMIM:618862
HP:0005487	Prominent metopic ridge	2290	FOXG1	ORPHA:261144
HP:0005487	Prominent metopic ridge	1182	CLCN3	OMIM:619512
HP:0005487	Prominent metopic ridge	3590	IL11RA	OMIM:614188
HP:0005487	Prominent metopic ridge	56006	SMG9	OMIM:616920
HP:0005487	Prominent metopic ridge	10765	KDM5B	OMIM:618109
HP:0005487	Prominent metopic ridge	100151683	RNU4ATAC	OMIM:210710
HP:0005487	Prominent metopic ridge	57282	SLC4A10	OMIM:620746
HP:0005487	Prominent metopic ridge	253738	EBF3	ORPHA:96148
HP:0005487	Prominent metopic ridge	25914	RTTN	ORPHA:468631
HP:0005487	Prominent metopic ridge	3190	HNRNPK	ORPHA:453504
HP:0005487	Prominent metopic ridge	3190	HNRNPK	OMIM:616580
HP:0005487	Prominent metopic ridge	3190	HNRNPK	ORPHA:352665
HP:0005487	Prominent metopic ridge	79796	ALG9	ORPHA:79328
HP:0005487	Prominent metopic ridge	10847	SRCAP	OMIM:136140
HP:0005487	Prominent metopic ridge	4094	MAF	ORPHA:1272
HP:0005487	Prominent metopic ridge	3021	H3-3B	OMIM:619721
HP:0005487	Prominent metopic ridge	5594	MAPK1	OMIM:619087
HP:0005487	Prominent metopic ridge	23030	KDM4B	OMIM:619320
HP:0005487	Prominent metopic ridge	4010	LMX1B	ORPHA:495818
HP:0005487	Prominent metopic ridge	6812	STXBP1	ORPHA:495818
HP:0005487	Prominent metopic ridge	157922	CAMSAP1	OMIM:620316
HP:0005487	Prominent metopic ridge	7291	TWIST1	OMIM:617746
HP:0005487	Prominent metopic ridge	55780	ERMARD	ORPHA:75857
HP:0005487	Prominent metopic ridge	471	ATIC	OMIM:608688
HP:0005487	Prominent metopic ridge	3767	KCNJ11	ORPHA:79134
HP:0005487	Prominent metopic ridge	3767	KCNJ11	ORPHA:99885
HP:0005487	Prominent metopic ridge	3767	KCNJ11	OMIM:618856
HP:0005487	Prominent metopic ridge	79731	NARS2	ORPHA:79134
HP:0005487	Prominent metopic ridge	6833	ABCC8	ORPHA:79134
HP:0005487	Prominent metopic ridge	6833	ABCC8	ORPHA:99885
HP:0005487	Prominent metopic ridge	60	ACTB	OMIM:620475
HP:0005487	Prominent metopic ridge	60	ACTB	ORPHA:2995
HP:0005487	Prominent metopic ridge	6774	STAT3	ORPHA:99885
HP:0005487	Prominent metopic ridge	2645	GCK	ORPHA:99885
HP:0005487	Prominent metopic ridge	3651	PDX1	ORPHA:99885
HP:0005487	Prominent metopic ridge	3630	INS	ORPHA:99885
HP:0005487	Prominent metopic ridge	4131	MAP1B	OMIM:618918
HP:0005487	Prominent metopic ridge	79158	GNPTAB	ORPHA:576
HP:0005487	Prominent metopic ridge	1028	CDKN1C	OMIM:130650
HP:0005487	Prominent metopic ridge	3481	IGF2	OMIM:130650
HP:0005487	Prominent metopic ridge	3784	KCNQ1	OMIM:130650
HP:0005487	Prominent metopic ridge	10984	KCNQ1OT1	OMIM:130650
HP:0005487	Prominent metopic ridge	8260	NAA10	OMIM:300855
HP:0005487	Prominent metopic ridge	2068	ERCC2	ORPHA:1466
HP:0005487	Prominent metopic ridge	2067	ERCC1	ORPHA:1466
HP:0005487	Prominent metopic ridge	2074	ERCC6	ORPHA:1466
HP:0005487	Prominent metopic ridge	2073	ERCC5	ORPHA:1466
HP:0005487	Prominent metopic ridge	23511	NUP188	OMIM:618804
HP:0005487	Prominent metopic ridge	284058	KANSL1	OMIM:610443
HP:0005487	Prominent metopic ridge	93627	TBCK	OMIM:616900
HP:0005487	Prominent metopic ridge	93627	TBCK	ORPHA:488632
HP:0005487	Prominent metopic ridge	84081	NSRP1	OMIM:620001
HP:0005487	Prominent metopic ridge	71	ACTG1	ORPHA:2995
HP:0005487	Prominent metopic ridge	23116	TOGARAM1	OMIM:619185
HP:0005487	Prominent metopic ridge	171023	ASXL1	ORPHA:97297
HP:0005487	Prominent metopic ridge	171023	ASXL1	OMIM:605039
HP:0005487	Prominent metopic ridge	9742	IFT140	OMIM:266920
HP:0005487	Prominent metopic ridge	23036	ZNF292	OMIM:619188
HP:0005487	Prominent metopic ridge	2703	GJA8	OMIM:612474
HP:0005487	Prominent metopic ridge	2702	GJA5	OMIM:612474
HP:0005487	Prominent metopic ridge	92949	ADAMTSL1	ORPHA:521445
HP:0005487	Prominent metopic ridge	4854	NOTCH3	ORPHA:2789
HP:0005487	Prominent metopic ridge	4281	MID1	ORPHA:2745
HP:0005487	Prominent metopic ridge	51715	RAB23	ORPHA:65759
HP:0005487	Prominent metopic ridge	1954	MEGF8	ORPHA:65759
HP:0005487	Prominent metopic ridge	6602	SMARCD1	OMIM:618779
HP:0005487	Prominent metopic ridge	26834	RNU4-2	OMIM:620851
HP:0005487	Prominent metopic ridge	78987	CRELD1	OMIM:620771
HP:0005487	Prominent metopic ridge	27152	INTU	OMIM:617926
HP:0005487	Prominent metopic ridge	990	CDC6	OMIM:613805
HP:0005487	Prominent metopic ridge	5813	PURA	ORPHA:314655
HP:0005750	Lower-limb joint contracture	6445	SGCG	ORPHA:353
HP:0005750	Lower-limb joint contracture	3094	HINT1	ORPHA:324442
HP:0005750	Lower-limb joint contracture	23516	SLC39A14	OMIM:617013
HP:0005750	Lower-limb joint contracture	79912	PYROXD1	OMIM:617258
HP:0005750	Lower-limb joint contracture	6442	SGCA	ORPHA:62
HP:0005750	Lower-limb joint contracture	9990	SLC12A6	OMIM:620068
HP:0005750	Lower-limb joint contracture	10060	ABCC9	OMIM:619719
HP:0005750	Lower-limb joint contracture	5339	PLEC	ORPHA:254361
HP:0005750	Lower-limb joint contracture	64419	MTMR14	OMIM:160150
HP:0005750	Lower-limb joint contracture	1785	DNM2	OMIM:160150
HP:0005750	Lower-limb joint contracture	113179	ADAT3	ORPHA:363528
HP:0005750	Lower-limb joint contracture	55768	NGLY1	ORPHA:404454
HP:0005750	Lower-limb joint contracture	2799	GNS	OMIM:252940
HP:0005750	Lower-limb joint contracture	9215	LARGE1	OMIM:608840
HP:0005750	Lower-limb joint contracture	79147	FKRP	OMIM:607155
HP:0005750	Lower-limb joint contracture	79147	FKRP	OMIM:606612
HP:0005750	Lower-limb joint contracture	79147	FKRP	ORPHA:370980
HP:0005750	Lower-limb joint contracture	54888	NSUN2	OMIM:611091
HP:0005750	Lower-limb joint contracture	6709	SPTAN1	OMIM:620528
HP:0005750	Lower-limb joint contracture	84466	MEGF10	OMIM:620249
HP:0005750	Lower-limb joint contracture	4141	MARS1	OMIM:620323
HP:0005750	Lower-limb joint contracture	291	SLC25A4	OMIM:615418
HP:0005750	Lower-limb joint contracture	11145	PLAAT3	OMIM:620683
HP:0005750	Lower-limb joint contracture	4556	MT-TE	ORPHA:2596
HP:0005750	Lower-limb joint contracture	9499	MYOT	OMIM:609200
HP:0005750	Lower-limb joint contracture	2705	GJB1	OMIM:302800
HP:0005750	Lower-limb joint contracture	26090	ABHD12	OMIM:612674
HP:0005750	Lower-limb joint contracture	2218	FKTN	ORPHA:370980
HP:0005750	Lower-limb joint contracture	729920	CRPPA	ORPHA:370980
HP:0005750	Lower-limb joint contracture	10585	POMT1	ORPHA:370980
HP:0005750	Lower-limb joint contracture	3265	HRAS	OMIM:218040
HP:0005750	Lower-limb joint contracture	79188	TMEM43	ORPHA:98853
HP:0005750	Lower-limb joint contracture	23345	SYNE1	ORPHA:98853
HP:0005750	Lower-limb joint contracture	23224	SYNE2	ORPHA:98853
HP:0005750	Lower-limb joint contracture	1832	DSP	ORPHA:158687
HP:0005750	Lower-limb joint contracture	3728	JUP	ORPHA:158687
HP:0005750	Lower-limb joint contracture	2261	FGFR3	OMIM:610474
HP:0005750	Lower-limb joint contracture	10216	PRG4	ORPHA:2848
HP:0005750	Lower-limb joint contracture	84295	PHF6	ORPHA:127
HP:0005750	Lower-limb joint contracture	825	CAPN3	ORPHA:267
HP:0005750	Lower-limb joint contracture	2273	FHL1	OMIM:300696
HP:0005750	Lower-limb joint contracture	57190	SELENON	ORPHA:97244
HP:0005750	Lower-limb joint contracture	58	ACTA1	ORPHA:97244
HP:0005750	Lower-limb joint contracture	1756	DMD	OMIM:310200
HP:0005750	Lower-limb joint contracture	4000	LMNA	OMIM:613205
HP:0005750	Lower-limb joint contracture	4976	OPA1	OMIM:210000
HP:0005750	Lower-limb joint contracture	215	ABCD1	ORPHA:139396
HP:0005750	Lower-limb joint contracture	203859	ANO5	ORPHA:206549
HP:0005750	Lower-limb joint contracture	9653	HS2ST1	OMIM:619194
HP:0005750	Lower-limb joint contracture	274	BIN1	ORPHA:169186
HP:0005750	Lower-limb joint contracture	10290	SPEG	ORPHA:169186
HP:0005750	Lower-limb joint contracture	10290	SPEG	OMIM:615959
HP:0005750	Lower-limb joint contracture	6261	RYR1	ORPHA:169186
HP:0005750	Lower-limb joint contracture	7273	TTN	ORPHA:169186
HP:0005750	Lower-limb joint contracture	59341	TRPV4	OMIM:600175
HP:0005750	Lower-limb joint contracture	55906	ZC4H2	OMIM:301041
HP:0005750	Lower-limb joint contracture	4593	MUSK	OMIM:208150
HP:0005750	Lower-limb joint contracture	29895	MYL11	OMIM:619110
HP:0005750	Lower-limb joint contracture	100151683	RNU4ATAC	OMIM:210710
HP:0005750	Lower-limb joint contracture	100151683	RNU4ATAC	ORPHA:353298
HP:0005750	Lower-limb joint contracture	100151683	RNU4ATAC	OMIM:616651
HP:0005750	Lower-limb joint contracture	6885	MAP3K7	OMIM:617137
HP:0005750	Lower-limb joint contracture	9894	TELO2	ORPHA:488642
HP:0005750	Lower-limb joint contracture	285175	UNC80	OMIM:616801
HP:0005750	Lower-limb joint contracture	285175	UNC80	ORPHA:371364
HP:0005750	Lower-limb joint contracture	259232	NALCN	ORPHA:371364
HP:0005750	Lower-limb joint contracture	259232	NALCN	OMIM:616266
HP:0005750	Lower-limb joint contracture	7138	TNNT1	OMIM:620386
HP:0005750	Lower-limb joint contracture	7138	TNNT1	ORPHA:98902
HP:0005750	Lower-limb joint contracture	7138	TNNT1	OMIM:605355
HP:0005750	Lower-limb joint contracture	84992	PIGY	OMIM:616809
HP:0005750	Lower-limb joint contracture	64324	NSD1	ORPHA:821
HP:0005750	Lower-limb joint contracture	10297	APC2	ORPHA:821
HP:0005750	Lower-limb joint contracture	11160	ERLIN2	ORPHA:209951
HP:0005750	Lower-limb joint contracture	2617	GARS1	OMIM:619042
HP:0005750	Lower-limb joint contracture	26137	ZBTB20	OMIM:259050
HP:0005750	Lower-limb joint contracture	26137	ZBTB20	ORPHA:3042
HP:0005750	Lower-limb joint contracture	1836	SLC26A2	OMIM:222600
HP:0005750	Lower-limb joint contracture	8443	GNPAT	OMIM:222765
HP:0005750	Lower-limb joint contracture	6536	SLC6A9	OMIM:617301
HP:0005750	Lower-limb joint contracture	23522	KAT6B	ORPHA:85201
HP:0005750	Lower-limb joint contracture	23522	KAT6B	OMIM:606170
HP:0005750	Lower-limb joint contracture	163175	LGI4	OMIM:617468
HP:0005750	Lower-limb joint contracture	2201	FBN2	OMIM:121050
HP:0005750	Lower-limb joint contracture	60681	FKBP10	OMIM:259450
HP:0005750	Lower-limb joint contracture	4773	NFATC2	OMIM:620232
HP:0005750	Lower-limb joint contracture	1161	ERCC8	OMIM:216400
HP:0005750	Lower-limb joint contracture	6329	SCN4A	OMIM:620351
HP:0005750	Lower-limb joint contracture	6329	SCN4A	OMIM:620369
HP:0005750	Lower-limb joint contracture	7169	TPM2	OMIM:108120
HP:0005750	Lower-limb joint contracture	7169	TPM2	ORPHA:2020
HP:0005750	Lower-limb joint contracture	87178	PNPT1	ORPHA:319514
HP:0005750	Lower-limb joint contracture	79158	GNPTAB	ORPHA:576
HP:0005750	Lower-limb joint contracture	23299	BICD2	OMIM:615290
HP:0005750	Lower-limb joint contracture	4621	MYH3	OMIM:178110
HP:0005750	Lower-limb joint contracture	4621	MYH3	OMIM:193700
HP:0005750	Lower-limb joint contracture	5745	PTH1R	OMIM:156400
HP:0005750	Lower-limb joint contracture	84068	SLC10A7	OMIM:618363
HP:0005750	Lower-limb joint contracture	2157	F8	ORPHA:169805
HP:0005750	Lower-limb joint contracture	1292	COL6A2	OMIM:620727
HP:0005750	Lower-limb joint contracture	7317	UBA1	ORPHA:1145
HP:0005750	Lower-limb joint contracture	55681	SCYL2	ORPHA:1143
HP:0005750	Lower-limb joint contracture	84570	COL25A1	ORPHA:1143
HP:0005750	Lower-limb joint contracture	57222	ERGIC1	ORPHA:1143
HP:0005750	Lower-limb joint contracture	3339	HSPG2	OMIM:255800
HP:0005750	Lower-limb joint contracture	3339	HSPG2	ORPHA:800
HP:0005750	Lower-limb joint contracture	4313	MMP2	OMIM:259600
HP:0005750	Lower-limb joint contracture	1280	COL2A1	OMIM:156550
HP:0005750	Lower-limb joint contracture	4633	MYL2	ORPHA:2020
HP:0005750	Lower-limb joint contracture	3679	ITGA7	ORPHA:2020
HP:0005750	Lower-limb joint contracture	9200	HACD1	ORPHA:2020
HP:0005750	Lower-limb joint contracture	7170	TPM3	ORPHA:2020
HP:0005750	Lower-limb joint contracture	51776	MAP3K20	ORPHA:2020
HP:0005750	Lower-limb joint contracture	5297	PI4KA	OMIM:619621
HP:0005750	Lower-limb joint contracture	54681	P4HTM	OMIM:618493
HP:0005750	Lower-limb joint contracture	5277	PIGA	OMIM:300868
HP:0005750	Lower-limb joint contracture	1293	COL6A3	OMIM:620728
HP:0005750	Lower-limb joint contracture	6023	RMRP	OMIM:607095
HP:0005750	Lower-limb joint contracture	2783	GNB2	OMIM:619503
HP:0005750	Lower-limb joint contracture	4632	MYL1	OMIM:618414
HP:0005750	Lower-limb joint contracture	27145	FILIP1	OMIM:620775
HP:0005750	Lower-limb joint contracture	84340	GFM2	ORPHA:565624
HP:0005750	Lower-limb joint contracture	60386	SLC25A19	OMIM:613710
HP:0005750	Lower-limb joint contracture	2521	FUS	ORPHA:300605
HP:0005750	Lower-limb joint contracture	80208	SPG11	ORPHA:300605
HP:0005750	Lower-limb joint contracture	10280	SIGMAR1	ORPHA:300605
HP:0005750	Lower-limb joint contracture	10558	SPTLC1	ORPHA:300605
HP:0005750	Lower-limb joint contracture	57679	ALS2	ORPHA:300605
HP:0005750	Lower-limb joint contracture	80232	WDR26	ORPHA:513456
HP:0005750	Lower-limb joint contracture	6134	RPL10	ORPHA:459070
HP:0005750	Lower-limb joint contracture	3767	KCNJ11	ORPHA:99885
HP:0005750	Lower-limb joint contracture	6774	STAT3	ORPHA:99885
HP:0005750	Lower-limb joint contracture	2645	GCK	ORPHA:99885
HP:0005750	Lower-limb joint contracture	3651	PDX1	ORPHA:99885
HP:0005750	Lower-limb joint contracture	6833	ABCC8	ORPHA:99885
HP:0005750	Lower-limb joint contracture	3630	INS	ORPHA:99885
HP:0005750	Lower-limb joint contracture	139285	AMER1	OMIM:300373
HP:0005750	Lower-limb joint contracture	55315	SLC29A3	OMIM:602782
HP:0005750	Lower-limb joint contracture	23556	PIGN	ORPHA:280633
HP:0005750	Lower-limb joint contracture	64127	NOD2	OMIM:186580
HP:0005750	Lower-limb joint contracture	23102	TBC1D2B	OMIM:619323
HP:0005750	Lower-limb joint contracture	9150	CTDP1	ORPHA:48431
HP:0005750	Lower-limb joint contracture	7043	TGFB3	OMIM:615582
HP:0005750	Lower-limb joint contracture	1984	EIF5A	OMIM:619376
HP:0005750	Lower-limb joint contracture	5696	PSMB8	OMIM:256040
HP:0005750	Lower-limb joint contracture	4921	DDR2	OMIM:271665
HP:0005750	Lower-limb joint contracture	23141	ANKLE2	OMIM:616681
HP:0005750	Lower-limb joint contracture	8506	CNTNAP1	OMIM:616286
HP:0005750	Lower-limb joint contracture	4010	LMX1B	ORPHA:2614
HP:0005750	Lower-limb joint contracture	170689	ADAMTS15	OMIM:620545
HP:0005750	Lower-limb joint contracture	5352	PLOD2	OMIM:609220
HP:0005750	Lower-limb joint contracture	1303	COL12A1	ORPHA:75840
HP:0005750	Lower-limb joint contracture	1303	COL12A1	ORPHA:536516
HP:0005750	Lower-limb joint contracture	1291	COL6A1	ORPHA:75840
HP:0005750	Lower-limb joint contracture	6840	SVIL	OMIM:619040
HP:0005750	Lower-limb joint contracture	91179	SCARF2	OMIM:600920
HP:0005750	Lower-limb joint contracture	3714	JAG2	OMIM:619566
HP:0005750	Lower-limb joint contracture	51506	UFC1	OMIM:618076
HP:0005750	Lower-limb joint contracture	4649	MYO9A	OMIM:618198
HP:0005750	Lower-limb joint contracture	6616	SNAP25	OMIM:616330
HP:0005750	Lower-limb joint contracture	2067	ERCC1	OMIM:610758
HP:0005750	Lower-limb joint contracture	29925	GMPPB	ORPHA:353327
HP:0005750	Lower-limb joint contracture	2673	GFPT1	ORPHA:353327
HP:0005750	Lower-limb joint contracture	1798	DPAGT1	ORPHA:353327
HP:0005750	Lower-limb joint contracture	85365	ALG2	ORPHA:353327
HP:0005750	Lower-limb joint contracture	85365	ALG2	OMIM:616228
HP:0005750	Lower-limb joint contracture	199857	ALG14	ORPHA:353327
HP:0005750	Lower-limb joint contracture	1146	CHRNG	OMIM:265000
HP:0005750	Lower-limb joint contracture	2316	FLNA	OMIM:305620
HP:0005750	Lower-limb joint contracture	23321	TRIM2	OMIM:615490
HP:0005750	Lower-limb joint contracture	92255	LMBRD2	OMIM:619694
HP:0005750	Lower-limb joint contracture	2010	EMD	OMIM:310300
HP:0005750	Lower-limb joint contracture	29968	PSAT1	ORPHA:284417
HP:0005750	Lower-limb joint contracture	3977	LIFR	OMIM:601559
HP:0005750	Lower-limb joint contracture	3977	LIFR	ORPHA:3206
HP:0005750	Lower-limb joint contracture	84342	COG8	OMIM:611182
HP:0005750	Lower-limb joint contracture	127833	SYT2	OMIM:619461
HP:0005750	Lower-limb joint contracture	23327	NEDD4L	OMIM:617201
HP:0005750	Lower-limb joint contracture	1954	MEGF8	OMIM:614976
HP:0005750	Lower-limb joint contracture	3930	LBR	OMIM:618019
HP:0005750	Lower-limb joint contracture	79644	SRD5A3	OMIM:612713
HP:0005750	Lower-limb joint contracture	6811	STX5	OMIM:620454
HP:0005750	Lower-limb joint contracture	9531	BAG3	OMIM:612954
HP:0005750	Lower-limb joint contracture	6874	TAF4	OMIM:620450
HP:0005750	Lower-limb joint contracture	2074	ERCC6	OMIM:214150
HP:0005750	Lower-limb joint contracture	9051	PSTPIP1	OMIM:604416
HP:0005750	Lower-limb joint contracture	10804	GJB6	ORPHA:477
HP:0005750	Lower-limb joint contracture	2706	GJB2	ORPHA:477
HP:0005750	Lower-limb joint contracture	2706	GJB2	OMIM:148210
HP:0005750	Lower-limb joint contracture	9791	PTDSS1	OMIM:151050
HP:0005750	Lower-limb joint contracture	63895	PIEZO2	OMIM:114300
HP:0005750	Lower-limb joint contracture	25914	RTTN	ORPHA:468631
HP:0005750	Lower-limb joint contracture	157570	ESCO2	ORPHA:3103
HP:0005750	Lower-limb joint contracture	157570	ESCO2	OMIM:268300
HP:0005750	Lower-limb joint contracture	10613	ERLIN1	ORPHA:401785
HP:0005750	Lower-limb joint contracture	22978	NT5C2	ORPHA:320396
HP:0005750	Lower-limb joint contracture	2222	FDFT1	OMIM:618156
HP:0005750	Lower-limb joint contracture	83636	C19orf12	OMIM:615043
HP:0005750	Lower-limb joint contracture	1376	CPT2	OMIM:608836
HP:0005750	Lower-limb joint contracture	5296	PIK3R2	OMIM:603387
HP:0005750	Lower-limb joint contracture	23387	SIK3	OMIM:618162
HP:0005750	Lower-limb joint contracture	8813	DPM1	OMIM:608799
HP:0005750	Lower-limb joint contracture	8813	DPM1	ORPHA:79322
HP:0005750	Lower-limb joint contracture	339855	KY	ORPHA:496689
HP:0005750	Lower-limb joint contracture	6572	SLC18A3	OMIM:617239
HP:0005750	Lower-limb joint contracture	6389	SDHA	ORPHA:3208
HP:0005750	Lower-limb joint contracture	6390	SDHB	ORPHA:3208
HP:0005750	Lower-limb joint contracture	6392	SDHD	ORPHA:3208
HP:0005750	Lower-limb joint contracture	644096	SDHAF1	ORPHA:3208
HP:0005750	Lower-limb joint contracture	64116	SLC39A8	ORPHA:468699
HP:0005750	Lower-limb joint contracture	2200	FBN1	OMIM:184900
HP:0005750	Lower-limb joint contracture	91137	SLC25A46	OMIM:619303
HP:0005750	Lower-limb joint contracture	1140	CHRNB1	OMIM:616313
HP:0005750	Lower-limb joint contracture	529	ATP6V1E1	OMIM:617402
HP:0005750	Lower-limb joint contracture	8449	DHX16	OMIM:618733
HP:0005750	Lower-limb joint contracture	2737	GLI3	ORPHA:93322
HP:0005750	Lower-limb joint contracture	1859	DYRK1A	ORPHA:464311
HP:0005750	Lower-limb joint contracture	1605	DAG1	OMIM:613818
HP:0005750	Lower-limb joint contracture	1605	DAG1	ORPHA:280333
HP:0005750	Lower-limb joint contracture	55958	KLHL9	ORPHA:399081
HP:0005750	Lower-limb joint contracture	84876	ORAI1	OMIM:615883
HP:0005750	Lower-limb joint contracture	6509	SLC1A4	OMIM:616657
HP:0005750	Lower-limb joint contracture	26092	TOR1AIP1	OMIM:617072
HP:0005750	Lower-limb joint contracture	210	ALAD	ORPHA:100924
HP:0005750	Lower-limb joint contracture	513	ATP5F1D	OMIM:618120
HP:0005750	Lower-limb joint contracture	497661	C18orf32	OMIM:619985
HP:0005750	Lower-limb joint contracture	4703	NEB	ORPHA:399103
HP:0005750	Lower-limb joint contracture	7407	VARS1	OMIM:617802
HP:0005750	Lower-limb joint contracture	9896	FIG4	OMIM:611228
HP:0005750	Lower-limb joint contracture	65055	REEP1	OMIM:620011
HP:0005750	Lower-limb joint contracture	51305	KCNK9	ORPHA:166108
HP:0005750	Lower-limb joint contracture	4604	MYBPC1	OMIM:614335
HP:0005750	Lower-limb joint contracture	4312	MMP1	ORPHA:79408
HP:0005750	Lower-limb joint contracture	1294	COL7A1	ORPHA:79408
HP:0005750	Lower-limb joint contracture	2972	BRF1	ORPHA:444072
HP:0005750	Lower-limb joint contracture	23259	DDHD2	ORPHA:320380
HP:0005750	Lower-limb joint contracture	54828	BCAS3	OMIM:619641
HP:0005750	Lower-limb joint contracture	51651	PTRH2	ORPHA:456312
HP:0005750	Lower-limb joint contracture	1235	CCR6	ORPHA:220402
HP:0005750	Lower-limb joint contracture	79932	KIAA0319L	ORPHA:220402
HP:0005750	Lower-limb joint contracture	1490	CCN2	ORPHA:220402
HP:0005750	Lower-limb joint contracture	3663	IRF5	ORPHA:220402
HP:0005750	Lower-limb joint contracture	857	CAV1	ORPHA:220402
HP:0005750	Lower-limb joint contracture	3123	HLA-DRB1	ORPHA:220402
HP:0005750	Lower-limb joint contracture	2072	ERCC4	ORPHA:90321
HP:0005750	Lower-limb joint contracture	54880	BCOR	ORPHA:2712
HP:0005750	Lower-limb joint contracture	57282	SLC4A10	OMIM:620746
HP:0005750	Lower-limb joint contracture	122622	ADSS1	ORPHA:482601
HP:0005750	Lower-limb joint contracture	57731	SPTBN4	OMIM:617519
HP:0005750	Lower-limb joint contracture	3181	HNRNPA2B1	OMIM:620460
HP:0005750	Lower-limb joint contracture	10526	IPO8	OMIM:619472
HP:0005750	Lower-limb joint contracture	5528	PPP2R5D	ORPHA:457279
HP:0002500	Abnormal cerebral white matter morphology	2737	GLI3	ORPHA:672
HP:0002500	Abnormal cerebral white matter morphology	347733	TUBB2B	ORPHA:467166
HP:0002500	Abnormal cerebral white matter morphology	347733	TUBB2B	ORPHA:300573
HP:0002500	Abnormal cerebral white matter morphology	7846	TUBA1A	ORPHA:467166
HP:0002500	Abnormal cerebral white matter morphology	10381	TUBB3	ORPHA:467166
HP:0002500	Abnormal cerebral white matter morphology	9342	SNAP29	OMIM:609528
HP:0002500	Abnormal cerebral white matter morphology	9342	SNAP29	ORPHA:66631
HP:0002500	Abnormal cerebral white matter morphology	1387	CREBBP	ORPHA:353277
HP:0002500	Abnormal cerebral white matter morphology	51259	TMEM216	OMIM:608091
HP:0002500	Abnormal cerebral white matter morphology	6326	SCN2A	ORPHA:293181
HP:0002500	Abnormal cerebral white matter morphology	57468	SLC12A5	ORPHA:293181
HP:0002500	Abnormal cerebral white matter morphology	23236	PLCB1	ORPHA:293181
HP:0002500	Abnormal cerebral white matter morphology	57582	KCNT1	ORPHA:293181
HP:0002500	Abnormal cerebral white matter morphology	6323	SCN1A	ORPHA:293181
HP:0002500	Abnormal cerebral white matter morphology	6323	SCN1A	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	79751	SLC25A22	ORPHA:293181
HP:0002500	Abnormal cerebral white matter morphology	57465	TBC1D24	ORPHA:293181
HP:0002500	Abnormal cerebral white matter morphology	8289	ARID1A	OMIM:614607
HP:0002500	Abnormal cerebral white matter morphology	9839	ZEB2	OMIM:235730
HP:0002500	Abnormal cerebral white matter morphology	9839	ZEB2	ORPHA:261537
HP:0002500	Abnormal cerebral white matter morphology	9839	ZEB2	ORPHA:261552
HP:0002500	Abnormal cerebral white matter morphology	8050	PDHX	ORPHA:255182
HP:0002500	Abnormal cerebral white matter morphology	6598	SMARCB1	OMIM:614608
HP:0002500	Abnormal cerebral white matter morphology	28514	DLL1	OMIM:618709
HP:0002500	Abnormal cerebral white matter morphology	28514	DLL1	ORPHA:280195
HP:0002500	Abnormal cerebral white matter morphology	79848	CSPP1	ORPHA:397715
HP:0002500	Abnormal cerebral white matter morphology	9786	KIAA0586	ORPHA:397715
HP:0002500	Abnormal cerebral white matter morphology	4297	KMT2A	ORPHA:319182
HP:0002500	Abnormal cerebral white matter morphology	2232	FDXR	ORPHA:543470
HP:0002500	Abnormal cerebral white matter morphology	2253	FGF8	ORPHA:280195
HP:0002500	Abnormal cerebral white matter morphology	6496	SIX3	ORPHA:280195
HP:0002500	Abnormal cerebral white matter morphology	7050	TGIF1	ORPHA:280195
HP:0002500	Abnormal cerebral white matter morphology	4838	NODAL	ORPHA:280195
HP:0002500	Abnormal cerebral white matter morphology	6469	SHH	ORPHA:280195
HP:0002500	Abnormal cerebral white matter morphology	7546	ZIC2	ORPHA:280195
HP:0002500	Abnormal cerebral white matter morphology	6491	STIL	ORPHA:280195
HP:0002500	Abnormal cerebral white matter morphology	2619	GAS1	ORPHA:280195
HP:0002500	Abnormal cerebral white matter morphology	84976	DISP1	ORPHA:280195
HP:0002500	Abnormal cerebral white matter morphology	2736	GLI2	ORPHA:280195
HP:0002500	Abnormal cerebral white matter morphology	8928	FOXH1	ORPHA:280195
HP:0002500	Abnormal cerebral white matter morphology	6997	CRIPTO	ORPHA:280195
HP:0002500	Abnormal cerebral white matter morphology	5727	PTCH1	ORPHA:280195
HP:0002500	Abnormal cerebral white matter morphology	50937	CDON	ORPHA:280195
HP:0002500	Abnormal cerebral white matter morphology	1654	DDX3X	ORPHA:3338
HP:0002500	Abnormal cerebral white matter morphology	27245	AHDC1	ORPHA:412069
HP:0002500	Abnormal cerebral white matter morphology	4281	MID1	ORPHA:2745
HP:0002500	Abnormal cerebral white matter morphology	23322	RPGRIP1L	OMIM:611560
HP:0002500	Abnormal cerebral white matter morphology	2475	MTOR	ORPHA:457485
HP:0002500	Abnormal cerebral white matter morphology	2033	EP300	ORPHA:353284
HP:0002500	Abnormal cerebral white matter morphology	3737	KCNA2	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	1759	DNM1	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	8120	AP3B2	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	523	ATP6V1A	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	10991	SLC38A3	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	51343	FZR1	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	3747	KCNC2	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	1917	EEF1A2	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	23219	FBXO28	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	2561	GABRB2	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	8831	SYNGAP1	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	2558	GABRA5	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	2906	GRIN2D	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	116150	NUS1	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	1213	CLTC	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	51741	WWOX	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	23334	SZT2	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	348980	HCN1	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	25977	NECAP1	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	23241	PACS2	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	16	AARS1	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	6334	SCN8A	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	9568	GABBR2	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	2555	GABRA2	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	55152	DALRD3	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	26999	CYFIP2	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	4915	NTRK2	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	25973	PARS2	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	23097	CDK19	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	2257	FGF12	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	5530	PPP3CA	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	478	ATP1A3	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	22906	TRAK1	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	2566	GABRG2	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	7532	YWHAG	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	79876	UBA5	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	781	CACNA2D1	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	10659	CELF2	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	774	CACNA1B	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	51412	ACTL6B	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	2290	FOXG1	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	6506	SLC1A2	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	8867	SYNJ1	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	477	ATP1A2	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	3745	KCNB1	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	22866	CNKSR2	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	773	CACNA1A	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	79947	DHDDS	ORPHA:442835
HP:0002500	Abnormal cerebral white matter morphology	2581	GALC	ORPHA:206448
HP:0002500	Abnormal cerebral white matter morphology	5354	PLP1	ORPHA:280229
HP:0002500	Abnormal cerebral white matter morphology	8241	RBM10	ORPHA:2886
HP:0002500	Abnormal cerebral white matter morphology	267010	RNU12	ORPHA:512260
HP:0002500	Abnormal cerebral white matter morphology	3476	IGBP1	OMIM:300472
HP:0002500	Abnormal cerebral white matter morphology	3476	IGBP1	ORPHA:52055
HP:0002500	Abnormal cerebral white matter morphology	11113	CIT	OMIM:617090
HP:0002500	Abnormal cerebral white matter morphology	11113	CIT	ORPHA:2512
HP:0002500	Abnormal cerebral white matter morphology	23141	ANKLE2	OMIM:616681
HP:0002500	Abnormal cerebral white matter morphology	23141	ANKLE2	ORPHA:2512
HP:0002500	Abnormal cerebral white matter morphology	23019	CNOT1	OMIM:618500
HP:0002500	Abnormal cerebral white matter morphology	23019	CNOT1	ORPHA:556955
HP:0002500	Abnormal cerebral white matter morphology	1024	CDK8	OMIM:618748
HP:0002500	Abnormal cerebral white matter morphology	23556	PIGN	ORPHA:2059
HP:0002500	Abnormal cerebral white matter morphology	81857	MED25	OMIM:616449
HP:0002500	Abnormal cerebral white matter morphology	81857	MED25	ORPHA:464738
HP:0002500	Abnormal cerebral white matter morphology	10992	SF3B2	OMIM:164210
HP:0002500	Abnormal cerebral white matter morphology	2731	GLDC	OMIM:605899
HP:0002500	Abnormal cerebral white matter morphology	3190	HNRNPK	ORPHA:453504
HP:0002500	Abnormal cerebral white matter morphology	3190	HNRNPK	ORPHA:352665
HP:0002500	Abnormal cerebral white matter morphology	55112	DYNC2I1	ORPHA:93271
HP:0002500	Abnormal cerebral white matter morphology	57560	IFT80	ORPHA:93271
HP:0002500	Abnormal cerebral white matter morphology	57539	WDR35	ORPHA:93271
HP:0002500	Abnormal cerebral white matter morphology	79659	DYNC2H1	ORPHA:93271
HP:0002500	Abnormal cerebral white matter morphology	79659	DYNC2H1	OMIM:613091
HP:0002500	Abnormal cerebral white matter morphology	89891	DYNC2I2	ORPHA:93271
HP:0002500	Abnormal cerebral white matter morphology	2073	ERCC5	OMIM:616570
HP:0002500	Abnormal cerebral white matter morphology	116931	MED12L	OMIM:618872
HP:0002500	Abnormal cerebral white matter morphology	9578	CDC42BPB	OMIM:619841
HP:0002500	Abnormal cerebral white matter morphology	6576	SLC25A1	OMIM:618197
HP:0002500	Abnormal cerebral white matter morphology	4867	NPHP1	ORPHA:220497
HP:0002500	Abnormal cerebral white matter morphology	22858	CILK1	OMIM:612651
HP:0002500	Abnormal cerebral white matter morphology	80055	PGAP1	OMIM:615802
HP:0002500	Abnormal cerebral white matter morphology	80055	PGAP1	ORPHA:401820
HP:0002500	Abnormal cerebral white matter morphology	2263	FGFR2	ORPHA:87
HP:0002500	Abnormal cerebral white matter morphology	2263	FGFR2	OMIM:123790
HP:0002500	Abnormal cerebral white matter morphology	2263	FGFR2	OMIM:101200
HP:0002500	Abnormal cerebral white matter morphology	56992	KIF15	ORPHA:261323
HP:0002500	Abnormal cerebral white matter morphology	51360	MBTPS2	ORPHA:2273
HP:0002500	Abnormal cerebral white matter morphology	284058	KANSL1	ORPHA:363958
HP:0002500	Abnormal cerebral white matter morphology	284058	KANSL1	ORPHA:363965
HP:0002500	Abnormal cerebral white matter morphology	1020	CDK5	OMIM:616342
HP:0002500	Abnormal cerebral white matter morphology	83871	RAB34	OMIM:620718
HP:0002500	Abnormal cerebral white matter morphology	5173	PDYN	OMIM:610245
HP:0002500	Abnormal cerebral white matter morphology	55681	SCYL2	OMIM:618766
HP:0002500	Abnormal cerebral white matter morphology	2018	EMX2	OMIM:269160
HP:0002500	Abnormal cerebral white matter morphology	546	ATRX	ORPHA:847
HP:0002500	Abnormal cerebral white matter morphology	7080	NKX2-1	ORPHA:209905
HP:0002500	Abnormal cerebral white matter morphology	6597	SMARCA4	OMIM:614609
HP:0002500	Abnormal cerebral white matter morphology	6597	SMARCA4	ORPHA:1465
HP:0002500	Abnormal cerebral white matter morphology	9401	RECQL4	OMIM:218600
HP:0002500	Abnormal cerebral white matter morphology	57216	VANGL2	ORPHA:563612
HP:0002500	Abnormal cerebral white matter morphology	171023	ASXL1	ORPHA:97297
HP:0002500	Abnormal cerebral white matter morphology	171023	ASXL1	OMIM:605039
HP:0002500	Abnormal cerebral white matter morphology	9896	FIG4	ORPHA:3472
HP:0002500	Abnormal cerebral white matter morphology	9896	FIG4	OMIM:216340
HP:0002500	Abnormal cerebral white matter morphology	55697	VAC14	ORPHA:3472
HP:0002500	Abnormal cerebral white matter morphology	54872	PIGG	ORPHA:280
HP:0002500	Abnormal cerebral white matter morphology	7469	NELFA	ORPHA:280
HP:0002500	Abnormal cerebral white matter morphology	22872	SEC31A	OMIM:618651
HP:0002500	Abnormal cerebral white matter morphology	57498	KIDINS220	OMIM:619501
HP:0002500	Abnormal cerebral white matter morphology	55012	PPP2R3C	OMIM:618419
HP:0002500	Abnormal cerebral white matter morphology	51021	MRPS16	OMIM:610498
HP:0002500	Abnormal cerebral white matter morphology	11193	WBP4	OMIM:620852
HP:0002500	Abnormal cerebral white matter morphology	23007	PLCH1	ORPHA:93925
HP:0002500	Abnormal cerebral white matter morphology	10735	STAG2	ORPHA:93925
HP:0002500	Abnormal cerebral white matter morphology	10735	STAG2	OMIM:301043
HP:0002500	Abnormal cerebral white matter morphology	10735	STAG2	ORPHA:220386
HP:0002500	Abnormal cerebral white matter morphology	79731	NARS2	OMIM:616239
HP:0002500	Abnormal cerebral white matter morphology	6602	SMARCD1	OMIM:618779
HP:0002500	Abnormal cerebral white matter morphology	6602	SMARCD1	ORPHA:1465
HP:0002500	Abnormal cerebral white matter morphology	55623	THUMPD1	OMIM:619989
HP:0002500	Abnormal cerebral white matter morphology	3192	HNRNPU	ORPHA:238769
HP:0002500	Abnormal cerebral white matter morphology	9653	HS2ST1	OMIM:619194
HP:0002500	Abnormal cerebral white matter morphology	129563	DIS3L2	OMIM:267000
HP:0002500	Abnormal cerebral white matter morphology	1947	EFNB1	OMIM:304110
HP:0002500	Abnormal cerebral white matter morphology	5518	PPP2R1A	OMIM:616362
HP:0002500	Abnormal cerebral white matter morphology	5518	PPP2R1A	ORPHA:457284
HP:0002500	Abnormal cerebral white matter morphology	23512	SUZ12	OMIM:618786
HP:0002500	Abnormal cerebral white matter morphology	6608	SMO	OMIM:601707
HP:0002500	Abnormal cerebral white matter morphology	6608	SMO	ORPHA:1553
HP:0002500	Abnormal cerebral white matter morphology	54539	NDUFB11	OMIM:309801
HP:0002500	Abnormal cerebral white matter morphology	54539	NDUFB11	ORPHA:2556
HP:0002500	Abnormal cerebral white matter morphology	54539	NDUFB11	OMIM:300952
HP:0002500	Abnormal cerebral white matter morphology	1349	COX7B	OMIM:309801
HP:0002500	Abnormal cerebral white matter morphology	1349	COX7B	OMIM:300887
HP:0002500	Abnormal cerebral white matter morphology	1349	COX7B	ORPHA:2556
HP:0002500	Abnormal cerebral white matter morphology	3052	HCCS	OMIM:309801
HP:0002500	Abnormal cerebral white matter morphology	3052	HCCS	ORPHA:2556
HP:0002500	Abnormal cerebral white matter morphology	55773	TBC1D23	OMIM:617695
HP:0002500	Abnormal cerebral white matter morphology	5626	PROP1	ORPHA:226307
HP:0002500	Abnormal cerebral white matter morphology	5626	PROP1	ORPHA:95494
HP:0002500	Abnormal cerebral white matter morphology	89884	LHX4	ORPHA:226307
HP:0002500	Abnormal cerebral white matter morphology	89884	LHX4	ORPHA:95494
HP:0002500	Abnormal cerebral white matter morphology	8022	LHX3	ORPHA:226307
HP:0002500	Abnormal cerebral white matter morphology	5449	POU1F1	ORPHA:226307
HP:0002500	Abnormal cerebral white matter morphology	5449	POU1F1	ORPHA:95494
HP:0002500	Abnormal cerebral white matter morphology	8820	HESX1	ORPHA:226307
HP:0002500	Abnormal cerebral white matter morphology	8820	HESX1	ORPHA:95494
HP:0002500	Abnormal cerebral white matter morphology	8820	HESX1	OMIM:182230
HP:0002500	Abnormal cerebral white matter morphology	8820	HESX1	ORPHA:3157
HP:0002500	Abnormal cerebral white matter morphology	4519	MT-CYB	ORPHA:137675
HP:0002500	Abnormal cerebral white matter morphology	5828	PEX2	OMIM:614866
HP:0002500	Abnormal cerebral white matter morphology	5590	PRKCZ	ORPHA:1606
HP:0002500	Abnormal cerebral white matter morphology	2563	GABRD	ORPHA:1606
HP:0002500	Abnormal cerebral white matter morphology	23013	SPEN	ORPHA:1606
HP:0002500	Abnormal cerebral white matter morphology	23013	SPEN	OMIM:619312
HP:0002500	Abnormal cerebral white matter morphology	8510	MMP23B	ORPHA:1606
HP:0002500	Abnormal cerebral white matter morphology	7798	LUZP1	ORPHA:1606
HP:0002500	Abnormal cerebral white matter morphology	6497	SKI	ORPHA:1606
HP:0002500	Abnormal cerebral white matter morphology	10630	PDPN	ORPHA:1606
HP:0002500	Abnormal cerebral white matter morphology	3339	HSPG2	ORPHA:1606
HP:0002500	Abnormal cerebral white matter morphology	10277	UBE4B	ORPHA:1606
HP:0002500	Abnormal cerebral white matter morphology	8514	KCNAB2	ORPHA:1606
HP:0002500	Abnormal cerebral white matter morphology	63976	PRDM16	ORPHA:1606
HP:0002500	Abnormal cerebral white matter morphology	54897	CASZ1	ORPHA:1606
HP:0002500	Abnormal cerebral white matter morphology	11128	POLR3A	OMIM:264090
HP:0002500	Abnormal cerebral white matter morphology	11128	POLR3A	ORPHA:3455
HP:0002500	Abnormal cerebral white matter morphology	6558	SLC12A2	OMIM:619083
HP:0002500	Abnormal cerebral white matter morphology	10236	HNRNPR	OMIM:620073
HP:0002500	Abnormal cerebral white matter morphology	3170	FOXA2	ORPHA:95494
HP:0002500	Abnormal cerebral white matter morphology	5015	OTX2	ORPHA:95494
HP:0002500	Abnormal cerebral white matter morphology	5015	OTX2	ORPHA:990
HP:0002500	Abnormal cerebral white matter morphology	5015	OTX2	ORPHA:3157
HP:0002500	Abnormal cerebral white matter morphology	83479	DDX59	ORPHA:2919
HP:0002500	Abnormal cerebral white matter morphology	83479	DDX59	OMIM:174300
HP:0002500	Abnormal cerebral white matter morphology	113179	ADAT3	OMIM:615286
HP:0002500	Abnormal cerebral white matter morphology	113179	ADAT3	ORPHA:363528
HP:0002500	Abnormal cerebral white matter morphology	9928	KIF14	OMIM:616258
HP:0002500	Abnormal cerebral white matter morphology	9928	KIF14	OMIM:617914
HP:0002500	Abnormal cerebral white matter morphology	9928	KIF14	ORPHA:2512
HP:0002500	Abnormal cerebral white matter morphology	57492	ARID1B	ORPHA:251056
HP:0002500	Abnormal cerebral white matter morphology	57492	ARID1B	ORPHA:1465
HP:0002500	Abnormal cerebral white matter morphology	2271	FH	OMIM:606812
HP:0002500	Abnormal cerebral white matter morphology	57724	EPG5	OMIM:242840
HP:0002500	Abnormal cerebral white matter morphology	57724	EPG5	ORPHA:1493
HP:0002500	Abnormal cerebral white matter morphology	63895	PIEZO2	OMIM:248700
HP:0002500	Abnormal cerebral white matter morphology	63895	PIEZO2	ORPHA:2461
HP:0002500	Abnormal cerebral white matter morphology	2239	GPC4	ORPHA:373
HP:0002500	Abnormal cerebral white matter morphology	2239	GPC4	OMIM:312870
HP:0002500	Abnormal cerebral white matter morphology	2719	GPC3	ORPHA:373
HP:0002500	Abnormal cerebral white matter morphology	2719	GPC3	OMIM:312870
HP:0002500	Abnormal cerebral white matter morphology	10463	SLC30A9	OMIM:617595
HP:0002500	Abnormal cerebral white matter morphology	8565	YARS1	OMIM:619418
HP:0002500	Abnormal cerebral white matter morphology	2678	GGT1	OMIM:231950
HP:0002500	Abnormal cerebral white matter morphology	11023	VAX1	OMIM:614402
HP:0002500	Abnormal cerebral white matter morphology	51645	PPIL1	OMIM:619301
HP:0002500	Abnormal cerebral white matter morphology	51362	CDC40	OMIM:619302
HP:0002500	Abnormal cerebral white matter morphology	5881	RAC3	OMIM:618577
HP:0002500	Abnormal cerebral white matter morphology	60529	ALX4	ORPHA:228390
HP:0002500	Abnormal cerebral white matter morphology	55280	CWF19L1	ORPHA:453521
HP:0002500	Abnormal cerebral white matter morphology	3897	L1CAM	ORPHA:2466
HP:0002500	Abnormal cerebral white matter morphology	3897	L1CAM	OMIM:303350
HP:0002500	Abnormal cerebral white matter morphology	3897	L1CAM	OMIM:307000
HP:0002500	Abnormal cerebral white matter morphology	3897	L1CAM	ORPHA:2182
HP:0002500	Abnormal cerebral white matter morphology	164	AP1G1	OMIM:619548
HP:0002500	Abnormal cerebral white matter morphology	1801	DPH1	ORPHA:459061
HP:0002500	Abnormal cerebral white matter morphology	1802	DPH2	ORPHA:459061
HP:0002500	Abnormal cerebral white matter morphology	5888	RAD51	ORPHA:238722
HP:0002500	Abnormal cerebral white matter morphology	5888	RAD51	OMIM:157600
HP:0002500	Abnormal cerebral white matter morphology	10126	DNAL4	ORPHA:238722
HP:0002500	Abnormal cerebral white matter morphology	9423	NTN1	ORPHA:238722
HP:0002500	Abnormal cerebral white matter morphology	9423	NTN1	OMIM:157600
HP:0002500	Abnormal cerebral white matter morphology	56896	DPYSL5	OMIM:619435
HP:0002500	Abnormal cerebral white matter morphology	2879	GPX4	ORPHA:93317
HP:0002500	Abnormal cerebral white matter morphology	5396	PRRX1	OMIM:202650
HP:0002500	Abnormal cerebral white matter morphology	5396	PRRX1	ORPHA:990
HP:0002500	Abnormal cerebral white matter morphology	7545	ZIC1	OMIM:616602
HP:0002500	Abnormal cerebral white matter morphology	7545	ZIC1	OMIM:618736
HP:0002500	Abnormal cerebral white matter morphology	7473	WNT3	ORPHA:3301
HP:0002500	Abnormal cerebral white matter morphology	340419	RSPO2	ORPHA:3301
HP:0002500	Abnormal cerebral white matter morphology	9496	TBX4	ORPHA:3301
HP:0002500	Abnormal cerebral white matter morphology	55593	OTUD5	OMIM:301056
HP:0002500	Abnormal cerebral white matter morphology	7707	ZNF148	OMIM:617260
HP:0002500	Abnormal cerebral white matter morphology	5649	RELN	ORPHA:89844
HP:0002500	Abnormal cerebral white matter morphology	10300	KATNB1	ORPHA:89844
HP:0002500	Abnormal cerebral white matter morphology	54820	NDE1	ORPHA:89844
HP:0002500	Abnormal cerebral white matter morphology	54820	NDE1	OMIM:605013
HP:0002500	Abnormal cerebral white matter morphology	54820	NDE1	OMIM:614019
HP:0002500	Abnormal cerebral white matter morphology	23030	KDM4B	OMIM:619320
HP:0002500	Abnormal cerebral white matter morphology	55215	FANCI	OMIM:609053
HP:0002500	Abnormal cerebral white matter morphology	8320	EOMES	ORPHA:171703
HP:0002500	Abnormal cerebral white matter morphology	79133	NDUFAF5	OMIM:618238
HP:0002500	Abnormal cerebral white matter morphology	157922	CAMSAP1	OMIM:620316
HP:0002500	Abnormal cerebral white matter morphology	55997	CFC1	OMIM:605376
HP:0002500	Abnormal cerebral white matter morphology	84892	POMGNT2	ORPHA:899
HP:0002500	Abnormal cerebral white matter morphology	148789	B3GALNT2	ORPHA:899
HP:0002500	Abnormal cerebral white matter morphology	10329	RXYLT1	ORPHA:899
HP:0002500	Abnormal cerebral white matter morphology	1605	DAG1	ORPHA:899
HP:0002500	Abnormal cerebral white matter morphology	6657	SOX2	ORPHA:77298
HP:0002500	Abnormal cerebral white matter morphology	6657	SOX2	OMIM:206900
HP:0002500	Abnormal cerebral white matter morphology	6657	SOX2	ORPHA:3157
HP:0002500	Abnormal cerebral white matter morphology	4784	NFIX	OMIM:602535
HP:0002500	Abnormal cerebral white matter morphology	2657	GDF1	OMIM:208530
HP:0002500	Abnormal cerebral white matter morphology	6659	SOX4	ORPHA:1465
HP:0002500	Abnormal cerebral white matter morphology	5977	DPF2	ORPHA:1465
HP:0002500	Abnormal cerebral white matter morphology	6605	SMARCE1	ORPHA:1465
HP:0002500	Abnormal cerebral white matter morphology	6664	SOX11	ORPHA:1465
HP:0002500	Abnormal cerebral white matter morphology	5831	PYCR1	OMIM:612940
HP:0002500	Abnormal cerebral white matter morphology	1063	CENPF	OMIM:243605
HP:0002500	Abnormal cerebral white matter morphology	1000	CDH2	OMIM:618929
HP:0002500	Abnormal cerebral white matter morphology	1781	DYNC1I2	OMIM:618492
HP:0002500	Abnormal cerebral white matter morphology	1583	CYP11A1	ORPHA:289548
HP:0002500	Abnormal cerebral white matter morphology	1583	CYP11A1	ORPHA:168558
HP:0002500	Abnormal cerebral white matter morphology	7161	TP73	OMIM:619466
HP:0002500	Abnormal cerebral white matter morphology	2009	EML1	OMIM:600348
HP:0002500	Abnormal cerebral white matter morphology	84342	COG8	OMIM:611182
HP:0002500	Abnormal cerebral white matter morphology	5395	PMS2	OMIM:619101
HP:0002500	Abnormal cerebral white matter morphology	4990	SIX6	OMIM:206900
HP:0002500	Abnormal cerebral white matter morphology	2313	FLI1	ORPHA:2308
HP:0002500	Abnormal cerebral white matter morphology	60386	SLC25A19	ORPHA:99742
HP:0002500	Abnormal cerebral white matter morphology	60	ACTB	OMIM:243310
HP:0002500	Abnormal cerebral white matter morphology	64840	PORCN	OMIM:305600
HP:0002500	Abnormal cerebral white matter morphology	71	ACTG1	OMIM:614583
HP:0002500	Abnormal cerebral white matter morphology	348180	CTU2	OMIM:618142
HP:0002500	Abnormal cerebral white matter morphology	374879	ZNF699	OMIM:619488
HP:0002500	Abnormal cerebral white matter morphology	55640	FLVCR2	OMIM:225790
HP:0002500	Abnormal cerebral white matter morphology	6299	SALL1	ORPHA:857
HP:0002500	Abnormal cerebral white matter morphology	51339	DACT1	ORPHA:857
HP:0002500	Abnormal cerebral white matter morphology	118924	FRA10AC1	OMIM:620113
HP:0002500	Abnormal cerebral white matter morphology	1376	CPT2	OMIM:608836
HP:0002500	Abnormal cerebral white matter morphology	1376	CPT2	ORPHA:228308
HP:0002500	Abnormal cerebral white matter morphology	259266	ASPM	OMIM:608716
HP:0002500	Abnormal cerebral white matter morphology	259266	ASPM	ORPHA:2512
HP:0002500	Abnormal cerebral white matter morphology	2177	FANCD2	OMIM:227646
HP:0002500	Abnormal cerebral white matter morphology	84823	LMNB2	OMIM:616540
HP:0002500	Abnormal cerebral white matter morphology	8243	SMC1A	ORPHA:220386
HP:0002500	Abnormal cerebral white matter morphology	8777	MPDZ	OMIM:615219
HP:0002500	Abnormal cerebral white matter morphology	5430	POLR2A	OMIM:618603
HP:0002500	Abnormal cerebral white matter morphology	4292	MLH1	OMIM:276300
HP:0002500	Abnormal cerebral white matter morphology	22995	CEP152	ORPHA:2512
HP:0002500	Abnormal cerebral white matter morphology	284403	WDR62	ORPHA:2512
HP:0002500	Abnormal cerebral white matter morphology	55262	TRAPPC14	ORPHA:2512
HP:0002500	Abnormal cerebral white matter morphology	163786	SASS6	ORPHA:2512
HP:0002500	Abnormal cerebral white matter morphology	84879	MFSD2A	ORPHA:2512
HP:0002500	Abnormal cerebral white matter morphology	4176	MCM7	ORPHA:2512
HP:0002500	Abnormal cerebral white matter morphology	80254	CEP63	ORPHA:2512
HP:0002500	Abnormal cerebral white matter morphology	29081	METTL5	ORPHA:2512
HP:0002500	Abnormal cerebral white matter morphology	79023	NUP37	ORPHA:2512
HP:0002500	Abnormal cerebral white matter morphology	23310	NCAPD3	ORPHA:2512
HP:0002500	Abnormal cerebral white matter morphology	6301	SARS1	ORPHA:2512
HP:0002500	Abnormal cerebral white matter morphology	55755	CDK5RAP2	ORPHA:2512
HP:0002500	Abnormal cerebral white matter morphology	79648	MCPH1	ORPHA:2512
HP:0002500	Abnormal cerebral white matter morphology	7109	TRAPPC10	ORPHA:2512
HP:0002500	Abnormal cerebral white matter morphology	1911	PHC1	ORPHA:2512
HP:0002500	Abnormal cerebral white matter morphology	1062	CENPE	ORPHA:2512
HP:0002500	Abnormal cerebral white matter morphology	6884	TAF13	ORPHA:2512
HP:0002500	Abnormal cerebral white matter morphology	9662	CEP135	ORPHA:2512
HP:0002500	Abnormal cerebral white matter morphology	57082	KNL1	ORPHA:2512
HP:0002500	Abnormal cerebral white matter morphology	1021	CDK6	ORPHA:2512
HP:0002500	Abnormal cerebral white matter morphology	18	ABAT	OMIM:613163
HP:0002500	Abnormal cerebral white matter morphology	8449	DHX16	OMIM:618733
HP:0002500	Abnormal cerebral white matter morphology	128674	PROKR2	ORPHA:3157
HP:0002500	Abnormal cerebral white matter morphology	6658	SOX3	ORPHA:3157
HP:0002500	Abnormal cerebral white matter morphology	9915	ARNT2	ORPHA:3157
HP:0002500	Abnormal cerebral white matter morphology	283450	HECTD4	OMIM:620250
HP:0002500	Abnormal cerebral white matter morphology	2615	LRRC32	OMIM:619074
HP:0002500	Abnormal cerebral white matter morphology	10128	LRPPRC	OMIM:220111
HP:0002500	Abnormal cerebral white matter morphology	10785	WDR4	OMIM:618346
HP:0002500	Abnormal cerebral white matter morphology	6938	TCF12	OMIM:615314
HP:0002500	Abnormal cerebral white matter morphology	10733	PLK4	OMIM:616171
HP:0002500	Abnormal cerebral white matter morphology	4190	MDH1	OMIM:618959
HP:0002500	Abnormal cerebral white matter morphology	139285	AMER1	OMIM:300373
HP:0002500	Abnormal cerebral white matter morphology	54916	TMEM260	OMIM:617478
HP:0002500	Abnormal cerebral white matter morphology	64432	MRPS25	OMIM:619025
HP:0002500	Abnormal cerebral white matter morphology	2137	EXTL3	ORPHA:508533
HP:0002500	Abnormal cerebral white matter morphology	8036	SHOC2	OMIM:607721
HP:0002500	Abnormal cerebral white matter morphology	10617	STAMBP	OMIM:614261
HP:0002500	Abnormal cerebral white matter morphology	104	ADARB1	OMIM:618862
HP:0002500	Abnormal cerebral white matter morphology	9853	RUSC2	OMIM:617773
HP:0002500	Abnormal cerebral white matter morphology	1763	DNA2	OMIM:620819
HP:0002500	Abnormal cerebral white matter morphology	6873	TAF2	OMIM:615599
HP:0002500	Abnormal cerebral white matter morphology	6873	TAF2	ORPHA:397951
HP:0002500	Abnormal cerebral white matter morphology	7360	UGP2	OMIM:618744
HP:0002500	Abnormal cerebral white matter morphology	84942	WDR73	OMIM:251300
HP:0002500	Abnormal cerebral white matter morphology	6536	SLC6A9	OMIM:617301
HP:0002500	Abnormal cerebral white matter morphology	5610	EIF2AK2	OMIM:618877
HP:0002500	Abnormal cerebral white matter morphology	6844	VAMP2	OMIM:618760
HP:0002500	Abnormal cerebral white matter morphology	6872	TAF1	ORPHA:480907
HP:0002500	Abnormal cerebral white matter morphology	6872	TAF1	OMIM:300966
HP:0002500	Abnormal cerebral white matter morphology	4763	NF1	ORPHA:363700
HP:0002500	Abnormal cerebral white matter morphology	1656	DDX6	OMIM:618653
HP:0002500	Abnormal cerebral white matter morphology	25930	PTPN23	OMIM:618890
HP:0002500	Abnormal cerebral white matter morphology	23327	NEDD4L	OMIM:617201
HP:0002500	Abnormal cerebral white matter morphology	2903	GRIN2A	ORPHA:289266
HP:0002500	Abnormal cerebral white matter morphology	2903	GRIN2A	ORPHA:163721
HP:0002500	Abnormal cerebral white matter morphology	57178	ZMIZ1	OMIM:618659
HP:0002500	Abnormal cerebral white matter morphology	8550	MAPKAPK5	OMIM:619869
HP:0002500	Abnormal cerebral white matter morphology	6905	TBCE	OMIM:617207
HP:0002500	Abnormal cerebral white matter morphology	6905	TBCE	OMIM:241410
HP:0002500	Abnormal cerebral white matter morphology	6905	TBCE	ORPHA:496756
HP:0002500	Abnormal cerebral white matter morphology	26040	SETBP1	OMIM:269150
HP:0002500	Abnormal cerebral white matter morphology	26040	SETBP1	ORPHA:798
HP:0002500	Abnormal cerebral white matter morphology	1499	CTNNB1	ORPHA:404473
HP:0002500	Abnormal cerebral white matter morphology	1499	CTNNB1	OMIM:615075
HP:0002500	Abnormal cerebral white matter morphology	2261	FGFR3	OMIM:616482
HP:0002500	Abnormal cerebral white matter morphology	2261	FGFR3	ORPHA:85165
HP:0002500	Abnormal cerebral white matter morphology	9895	TECPR2	OMIM:615031
HP:0002500	Abnormal cerebral white matter morphology	9895	TECPR2	ORPHA:320385
HP:0002500	Abnormal cerebral white matter morphology	4613	MYCN	OMIM:620748
HP:0002500	Abnormal cerebral white matter morphology	7531	YWHAE	ORPHA:217385
HP:0002500	Abnormal cerebral white matter morphology	7531	YWHAE	ORPHA:531
HP:0002500	Abnormal cerebral white matter morphology	26137	ZBTB20	OMIM:259050
HP:0002500	Abnormal cerebral white matter morphology	9533	POLR1C	OMIM:616494
HP:0002500	Abnormal cerebral white matter morphology	1615	DARS1	OMIM:615281
HP:0002500	Abnormal cerebral white matter morphology	3800	KIF5C	OMIM:615282
HP:0002500	Abnormal cerebral white matter morphology	253959	RALGAPA1	OMIM:618797
HP:0002500	Abnormal cerebral white matter morphology	51098	IFT52	OMIM:617102
HP:0002500	Abnormal cerebral white matter morphology	57466	SCAF4	OMIM:620511
HP:0002500	Abnormal cerebral white matter morphology	79971	WLS	OMIM:619648
HP:0002500	Abnormal cerebral white matter morphology	7841	MOGS	ORPHA:79330
HP:0002500	Abnormal cerebral white matter morphology	7841	MOGS	OMIM:606056
HP:0002500	Abnormal cerebral white matter morphology	23162	MAPK8IP3	OMIM:618443
HP:0002500	Abnormal cerebral white matter morphology	3798	KIF5A	OMIM:617235
HP:0002500	Abnormal cerebral white matter morphology	51062	ATL1	OMIM:182600
HP:0002500	Abnormal cerebral white matter morphology	79087	ALG12	ORPHA:79324
HP:0002500	Abnormal cerebral white matter morphology	79053	ALG8	ORPHA:79325
HP:0002500	Abnormal cerebral white matter morphology	8295	TRRAP	OMIM:618454
HP:0002500	Abnormal cerebral white matter morphology	9742	IFT140	OMIM:266920
HP:0002500	Abnormal cerebral white matter morphology	7040	TGFB1	OMIM:618213
HP:0002500	Abnormal cerebral white matter morphology	133686	NADK2	OMIM:616034
HP:0002500	Abnormal cerebral white matter morphology	133686	NADK2	ORPHA:431361
HP:0002500	Abnormal cerebral white matter morphology	27429	HTRA2	OMIM:617248
HP:0002500	Abnormal cerebral white matter morphology	11338	U2AF2	OMIM:620535
HP:0002500	Abnormal cerebral white matter morphology	51013	EXOSC1	OMIM:619304
HP:0002500	Abnormal cerebral white matter morphology	55770	EXOC2	OMIM:619306
HP:0002500	Abnormal cerebral white matter morphology	84706	GPT2	OMIM:616281
HP:0002500	Abnormal cerebral white matter morphology	84706	GPT2	ORPHA:477673
HP:0002500	Abnormal cerebral white matter morphology	160418	TMTC3	OMIM:617255
HP:0002500	Abnormal cerebral white matter morphology	8506	CNTNAP1	OMIM:616286
HP:0002500	Abnormal cerebral white matter morphology	8506	CNTNAP1	OMIM:618186
HP:0002500	Abnormal cerebral white matter morphology	2187	FANCB	OMIM:300514
HP:0002500	Abnormal cerebral white matter morphology	10765	KDM5B	OMIM:618109
HP:0002500	Abnormal cerebral white matter morphology	10564	ARFGEF2	OMIM:608097
HP:0002500	Abnormal cerebral white matter morphology	85476	GFM1	OMIM:609060
HP:0002500	Abnormal cerebral white matter morphology	2671	GFER	ORPHA:330054
HP:0002500	Abnormal cerebral white matter morphology	11160	ERLIN2	ORPHA:209951
HP:0002500	Abnormal cerebral white matter morphology	11160	ERLIN2	OMIM:611225
HP:0002500	Abnormal cerebral white matter morphology	56945	MRPS22	OMIM:611719
HP:0002500	Abnormal cerebral white matter morphology	128869	PIGU	OMIM:618590
HP:0002500	Abnormal cerebral white matter morphology	5631	PRPS1	ORPHA:423479
HP:0002500	Abnormal cerebral white matter morphology	5515	PPP2CA	OMIM:618354
HP:0002500	Abnormal cerebral white matter morphology	55610	VPS50	OMIM:619685
HP:0002500	Abnormal cerebral white matter morphology	8312	AXIN1	OMIM:620558
HP:0002500	Abnormal cerebral white matter morphology	26128	KIFBP	ORPHA:66629
HP:0002500	Abnormal cerebral white matter morphology	26128	KIFBP	OMIM:609460
HP:0002500	Abnormal cerebral white matter morphology	6904	TBCD	ORPHA:496641
HP:0002500	Abnormal cerebral white matter morphology	6904	TBCD	OMIM:617193
HP:0002500	Abnormal cerebral white matter morphology	7337	UBE3A	ORPHA:98794
HP:0002500	Abnormal cerebral white matter morphology	4948	OCA2	ORPHA:98794
HP:0002500	Abnormal cerebral white matter morphology	22796	COG2	OMIM:617395
HP:0002500	Abnormal cerebral white matter morphology	22796	COG2	ORPHA:435934
HP:0002500	Abnormal cerebral white matter morphology	2560	GABRB1	OMIM:617153
HP:0002500	Abnormal cerebral white matter morphology	10588	MTHFS	OMIM:618367
HP:0002500	Abnormal cerebral white matter morphology	23221	RHOBTB2	OMIM:618004
HP:0002500	Abnormal cerebral white matter morphology	23476	BRD4	OMIM:620568
HP:0002500	Abnormal cerebral white matter morphology	7965	AIMP2	OMIM:618006
HP:0002500	Abnormal cerebral white matter morphology	201163	FLCN	OMIM:610883
HP:0002500	Abnormal cerebral white matter morphology	7703	PCGF2	OMIM:618371
HP:0002500	Abnormal cerebral white matter morphology	11342	RNF13	OMIM:618379
HP:0002500	Abnormal cerebral white matter morphology	11342	RNF13	ORPHA:544503
HP:0002500	Abnormal cerebral white matter morphology	9758	FRMPD4	OMIM:300983
HP:0002500	Abnormal cerebral white matter morphology	5332	PLCB4	OMIM:620458
HP:0002500	Abnormal cerebral white matter morphology	8883	NAE1	OMIM:620210
HP:0002500	Abnormal cerebral white matter morphology	50801	KCNK4	OMIM:618381
HP:0002500	Abnormal cerebral white matter morphology	84265	POLR3GL	OMIM:619234
HP:0002500	Abnormal cerebral white matter morphology	2892	GRIA3	ORPHA:364028
HP:0002500	Abnormal cerebral white matter morphology	26005	C2CD3	ORPHA:434179
HP:0002500	Abnormal cerebral white matter morphology	26005	C2CD3	OMIM:615948
HP:0002500	Abnormal cerebral white matter morphology	2571	GAD1	OMIM:619124
HP:0002500	Abnormal cerebral white matter morphology	2222	FDFT1	OMIM:618156
HP:0002500	Abnormal cerebral white matter morphology	285590	SH3PXD2B	OMIM:249420
HP:0002500	Abnormal cerebral white matter morphology	90522	YIF1B	OMIM:619125
HP:0002500	Abnormal cerebral white matter morphology	8239	USP9X	OMIM:300968
HP:0002500	Abnormal cerebral white matter morphology	8239	USP9X	ORPHA:480880
HP:0002500	Abnormal cerebral white matter morphology	9326	ZNHIT3	OMIM:260565
HP:0002500	Abnormal cerebral white matter morphology	6472	SHMT2	OMIM:619121
HP:0002500	Abnormal cerebral white matter morphology	29123	ANKRD11	ORPHA:261250
HP:0002500	Abnormal cerebral white matter morphology	8911	CACNA1I	OMIM:620114
HP:0002500	Abnormal cerebral white matter morphology	93587	TRMT10A	ORPHA:391408
HP:0002500	Abnormal cerebral white matter morphology	84919	PPP1R15B	ORPHA:391408
HP:0002500	Abnormal cerebral white matter morphology	84919	PPP1R15B	OMIM:616817
HP:0002500	Abnormal cerebral white matter morphology	3090	HIC1	ORPHA:531
HP:0002500	Abnormal cerebral white matter morphology	2629	GBA1	ORPHA:2072
HP:0002500	Abnormal cerebral white matter morphology	340533	NEXMIF	ORPHA:85277
HP:0002500	Abnormal cerebral white matter morphology	89970	RSPRY1	ORPHA:457395
HP:0002500	Abnormal cerebral white matter morphology	55005	RMND1	OMIM:614922
HP:0002500	Abnormal cerebral white matter morphology	10079	ATP9A	OMIM:620242
HP:0002500	Abnormal cerebral white matter morphology	23299	BICD2	OMIM:618291
HP:0002500	Abnormal cerebral white matter morphology	64802	NMNAT1	OMIM:619260
HP:0002500	Abnormal cerebral white matter morphology	129285	PPP1R21	OMIM:619383
HP:0002500	Abnormal cerebral white matter morphology	3480	IGF1R	OMIM:270450
HP:0002500	Abnormal cerebral white matter morphology	8085	KMT2D	OMIM:147920
HP:0002500	Abnormal cerebral white matter morphology	7403	KDM6A	OMIM:147920
HP:0002500	Abnormal cerebral white matter morphology	10682	EBP	ORPHA:401973
HP:0002500	Abnormal cerebral white matter morphology	6095	RORA	OMIM:618060
HP:0002500	Abnormal cerebral white matter morphology	9131	AIFM1	OMIM:300232
HP:0002500	Abnormal cerebral white matter morphology	9131	AIFM1	ORPHA:83629
HP:0002500	Abnormal cerebral white matter morphology	6535	SLC6A8	OMIM:300352
HP:0002500	Abnormal cerebral white matter morphology	132158	GLYCTK	ORPHA:941
HP:0002500	Abnormal cerebral white matter morphology	57176	VARS2	OMIM:615917
HP:0002500	Abnormal cerebral white matter morphology	80222	TARS2	OMIM:615918
HP:0002500	Abnormal cerebral white matter morphology	89910	UBE3B	OMIM:244450
HP:0002500	Abnormal cerebral white matter morphology	29072	SETD2	OMIM:620157
HP:0002500	Abnormal cerebral white matter morphology	29072	SETD2	OMIM:620155
HP:0002500	Abnormal cerebral white matter morphology	25839	COG4	ORPHA:263501
HP:0002500	Abnormal cerebral white matter morphology	25839	COG4	OMIM:613489
HP:0002500	Abnormal cerebral white matter morphology	55157	DARS2	ORPHA:137898
HP:0002500	Abnormal cerebral white matter morphology	501	ALDH7A1	ORPHA:3006
HP:0002500	Abnormal cerebral white matter morphology	11212	PLPBP	ORPHA:3006
HP:0002500	Abnormal cerebral white matter morphology	80856	LNPK	OMIM:618090
HP:0002500	Abnormal cerebral white matter morphology	26278	SACS	ORPHA:98
HP:0002500	Abnormal cerebral white matter morphology	23265	EXOC7	OMIM:619072
HP:0002500	Abnormal cerebral white matter morphology	1798	DPAGT1	ORPHA:86309
HP:0002500	Abnormal cerebral white matter morphology	7025	NR2F1	ORPHA:401777
HP:0002500	Abnormal cerebral white matter morphology	149371	EXOC8	OMIM:619076
HP:0002500	Abnormal cerebral white matter morphology	56006	SMG9	OMIM:616920
HP:0002500	Abnormal cerebral white matter morphology	27286	SRPX2	ORPHA:163721
HP:0002500	Abnormal cerebral white matter morphology	285175	UNC80	OMIM:616801
HP:0002500	Abnormal cerebral white matter morphology	285175	UNC80	ORPHA:371364
HP:0002500	Abnormal cerebral white matter morphology	54499	TMCO1	OMIM:213980
HP:0002500	Abnormal cerebral white matter morphology	54499	TMCO1	ORPHA:1394
HP:0002500	Abnormal cerebral white matter morphology	4094	MAF	ORPHA:1272
HP:0002500	Abnormal cerebral white matter morphology	5591	PRKDC	OMIM:615966
HP:0002500	Abnormal cerebral white matter morphology	51244	CCDC174	OMIM:616816
HP:0002500	Abnormal cerebral white matter morphology	51322	WAC	ORPHA:284169
HP:0002500	Abnormal cerebral white matter morphology	51322	WAC	OMIM:616708
HP:0002500	Abnormal cerebral white matter morphology	55275	VPS53	OMIM:615851
HP:0002500	Abnormal cerebral white matter morphology	200403	VWA3B	OMIM:616948
HP:0002500	Abnormal cerebral white matter morphology	85021	REPS1	OMIM:617916
HP:0002500	Abnormal cerebral white matter morphology	85440	DOCK7	OMIM:615859
HP:0002500	Abnormal cerebral white matter morphology	85440	DOCK7	ORPHA:411986
HP:0002500	Abnormal cerebral white matter morphology	7407	VARS1	OMIM:617802
HP:0002500	Abnormal cerebral white matter morphology	57165	GJC2	OMIM:613206
HP:0002500	Abnormal cerebral white matter morphology	5080	PAX6	OMIM:106210
HP:0002500	Abnormal cerebral white matter morphology	7490	WT1	OMIM:106210
HP:0002500	Abnormal cerebral white matter morphology	10075	HUWE1	OMIM:309590
HP:0002500	Abnormal cerebral white matter morphology	91949	COG7	OMIM:608779
HP:0002500	Abnormal cerebral white matter morphology	124997	WDR81	OMIM:610185
HP:0002500	Abnormal cerebral white matter morphology	11020	IFT27	OMIM:615996
HP:0002500	Abnormal cerebral white matter morphology	5859	QARS1	OMIM:615760
HP:0002500	Abnormal cerebral white matter morphology	80347	COASY	OMIM:615643
HP:0002500	Abnormal cerebral white matter morphology	23291	FBXW11	OMIM:618914
HP:0002500	Abnormal cerebral white matter morphology	10982	MAPRE2	OMIM:616734
HP:0002500	Abnormal cerebral white matter morphology	51218	GLRX5	OMIM:616859
HP:0002500	Abnormal cerebral white matter morphology	5053	PAH	ORPHA:2209
HP:0002500	Abnormal cerebral white matter morphology	4131	MAP1B	OMIM:618918
HP:0002500	Abnormal cerebral white matter morphology	5925	RB1	ORPHA:1587
HP:0002500	Abnormal cerebral white matter morphology	23511	NUP188	OMIM:618804
HP:0002500	Abnormal cerebral white matter morphology	1778	DYNC1H1	OMIM:614563
HP:0002500	Abnormal cerebral white matter morphology	2058	EPRS1	OMIM:617951
HP:0002500	Abnormal cerebral white matter morphology	27315	PGAP2	OMIM:614207
HP:0002500	Abnormal cerebral white matter morphology	57511	COG6	OMIM:614576
HP:0002500	Abnormal cerebral white matter morphology	9419	CRIPT	OMIM:615789
HP:0002500	Abnormal cerebral white matter morphology	55644	OSGEP	OMIM:617729
HP:0002500	Abnormal cerebral white matter morphology	340075	ARSI	ORPHA:401815
HP:0002500	Abnormal cerebral white matter morphology	4337	MOCS1	OMIM:252150
HP:0002500	Abnormal cerebral white matter morphology	29957	SLC25A24	OMIM:612289
HP:0002500	Abnormal cerebral white matter morphology	259232	NALCN	ORPHA:371364
HP:0002500	Abnormal cerebral white matter morphology	122553	TRAPPC6B	OMIM:617862
HP:0002500	Abnormal cerebral white matter morphology	51124	IER3IP1	OMIM:614231
HP:0002500	Abnormal cerebral white matter morphology	2893	GRIA4	OMIM:617864
HP:0002500	Abnormal cerebral white matter morphology	55704	CCDC88A	OMIM:617507
HP:0002500	Abnormal cerebral white matter morphology	54676	GTPBP2	OMIM:617988
HP:0002500	Abnormal cerebral white matter morphology	5455	POU3F3	OMIM:618604
HP:0002500	Abnormal cerebral white matter morphology	738	VPS51	OMIM:618606
HP:0002500	Abnormal cerebral white matter morphology	5116	PCNT	ORPHA:2637
HP:0002500	Abnormal cerebral white matter morphology	2806	GOT2	OMIM:618721
HP:0002500	Abnormal cerebral white matter morphology	51663	ZFR	ORPHA:401840
HP:0002500	Abnormal cerebral white matter morphology	1468	SLC25A10	OMIM:618972
HP:0002500	Abnormal cerebral white matter morphology	1968	EIF2S3	OMIM:300148
HP:0002500	Abnormal cerebral white matter morphology	5307	PITX1	OMIM:119800
HP:0002500	Abnormal cerebral white matter morphology	8884	SLC5A6	OMIM:618973
HP:0002500	Abnormal cerebral white matter morphology	7305	TYROBP	OMIM:221770
HP:0002500	Abnormal cerebral white matter morphology	55331	ACER3	OMIM:617762
HP:0002500	Abnormal cerebral white matter morphology	10844	TUBGCP2	OMIM:618737
HP:0002500	Abnormal cerebral white matter morphology	4858	NOVA2	OMIM:618859
HP:0002500	Abnormal cerebral white matter morphology	84148	KAT8	OMIM:618974
HP:0002500	Abnormal cerebral white matter morphology	2639	GCDH	ORPHA:25
HP:0002500	Abnormal cerebral white matter morphology	10749	KIF1C	ORPHA:397946
HP:0002500	Abnormal cerebral white matter morphology	3064	HTT	ORPHA:399
HP:0002500	Abnormal cerebral white matter morphology	3064	HTT	ORPHA:248111
HP:0002500	Abnormal cerebral white matter morphology	6515	SLC2A3	ORPHA:399
HP:0002500	Abnormal cerebral white matter morphology	9488	PIGB	OMIM:618580
HP:0002500	Abnormal cerebral white matter morphology	3912	LAMB1	OMIM:615191
HP:0002500	Abnormal cerebral white matter morphology	3912	LAMB1	ORPHA:352682
HP:0002500	Abnormal cerebral white matter morphology	7528	YY1	ORPHA:506358
HP:0002500	Abnormal cerebral white matter morphology	875	CBS	ORPHA:394
HP:0002500	Abnormal cerebral white matter morphology	8450	CUL4B	OMIM:300354
HP:0002500	Abnormal cerebral white matter morphology	4524	MTHFR	ORPHA:395
HP:0002500	Abnormal cerebral white matter morphology	91574	MTRFR	ORPHA:254930
HP:0002500	Abnormal cerebral white matter morphology	1173	AP2M1	OMIM:618587
HP:0002500	Abnormal cerebral white matter morphology	9420	CYP7B1	ORPHA:100986
HP:0002500	Abnormal cerebral white matter morphology	23345	SYNE1	ORPHA:88644
HP:0002500	Abnormal cerebral white matter morphology	7355	SLC35A2	ORPHA:356961
HP:0002500	Abnormal cerebral white matter morphology	1786	DNMT1	ORPHA:314404
HP:0002500	Abnormal cerebral white matter morphology	123263	MTFMT	OMIM:614947
HP:0002500	Abnormal cerebral white matter morphology	6328	SCN3A	OMIM:617938
HP:0002500	Abnormal cerebral white matter morphology	79783	SUGCT	ORPHA:35706
HP:0002500	Abnormal cerebral white matter morphology	6687	SPG7	ORPHA:99013
HP:0002500	Abnormal cerebral white matter morphology	5551	PRF1	ORPHA:540
HP:0002500	Abnormal cerebral white matter morphology	8676	STX11	ORPHA:540
HP:0002500	Abnormal cerebral white matter morphology	201294	UNC13D	ORPHA:540
HP:0002500	Abnormal cerebral white matter morphology	6813	STXBP2	ORPHA:540
HP:0002500	Abnormal cerebral white matter morphology	55187	VPS13D	OMIM:607317
HP:0002500	Abnormal cerebral white matter morphology	3778	KCNMA1	OMIM:618596
HP:0002500	Abnormal cerebral white matter morphology	7084	TK2	ORPHA:254886
HP:0002500	Abnormal cerebral white matter morphology	5428	POLG	ORPHA:254886
HP:0002500	Abnormal cerebral white matter morphology	5428	POLG	ORPHA:298
HP:0002500	Abnormal cerebral white matter morphology	5428	POLG	OMIM:613662
HP:0002500	Abnormal cerebral white matter morphology	79587	CARS2	ORPHA:477774
HP:0002500	Abnormal cerebral white matter morphology	6651	SON	OMIM:617140
HP:0002500	Abnormal cerebral white matter morphology	6651	SON	ORPHA:500150
HP:0002500	Abnormal cerebral white matter morphology	57520	HECW2	OMIM:617268
HP:0002500	Abnormal cerebral white matter morphology	51601	LIPT1	OMIM:616299
HP:0002500	Abnormal cerebral white matter morphology	22880	MORC2	ORPHA:466768
HP:0002500	Abnormal cerebral white matter morphology	4552	MTRR	ORPHA:2169
HP:0002500	Abnormal cerebral white matter morphology	998	CDC42	OMIM:616737
HP:0002500	Abnormal cerebral white matter morphology	8893	EIF2B5	OMIM:620315
HP:0002500	Abnormal cerebral white matter morphology	55904	KMT2E	OMIM:618512
HP:0002500	Abnormal cerebral white matter morphology	50	ACO2	OMIM:614559
HP:0002500	Abnormal cerebral white matter morphology	5048	PAFAH1B1	OMIM:607432
HP:0002500	Abnormal cerebral white matter morphology	55780	ERMARD	ORPHA:75857
HP:0002500	Abnormal cerebral white matter morphology	57231	SNX14	ORPHA:397709
HP:0002500	Abnormal cerebral white matter morphology	1890	TYMP	ORPHA:298
HP:0002500	Abnormal cerebral white matter morphology	3980	LIG3	ORPHA:298
HP:0002500	Abnormal cerebral white matter morphology	50484	RRM2B	ORPHA:298
HP:0002500	Abnormal cerebral white matter morphology	219285	SAMD9L	OMIM:159550
HP:0002500	Abnormal cerebral white matter morphology	79147	FKRP	OMIM:606612
HP:0002500	Abnormal cerebral white matter morphology	79147	FKRP	ORPHA:370980
HP:0002500	Abnormal cerebral white matter morphology	79147	FKRP	OMIM:613153
HP:0002500	Abnormal cerebral white matter morphology	83696	TRAPPC9	OMIM:613192
HP:0002500	Abnormal cerebral white matter morphology	84340	GFM2	ORPHA:565624
HP:0002500	Abnormal cerebral white matter morphology	2590	GALNT2	OMIM:618885
HP:0002500	Abnormal cerebral white matter morphology	6773	STAT2	OMIM:618886
HP:0002500	Abnormal cerebral white matter morphology	1183	CLCN4	ORPHA:485350
HP:0002500	Abnormal cerebral white matter morphology	55858	TMEM165	OMIM:614727
HP:0002500	Abnormal cerebral white matter morphology	8398	PLA2G6	ORPHA:35069
HP:0002500	Abnormal cerebral white matter morphology	29967	LRP12	OMIM:164310
HP:0002500	Abnormal cerebral white matter morphology	549	AUH	OMIM:250950
HP:0002500	Abnormal cerebral white matter morphology	80208	SPG11	OMIM:602099
HP:0002500	Abnormal cerebral white matter morphology	2632	GBE1	OMIM:263570
HP:0002500	Abnormal cerebral white matter morphology	215	ABCD1	OMIM:300100
HP:0002500	Abnormal cerebral white matter morphology	215	ABCD1	ORPHA:369942
HP:0002500	Abnormal cerebral white matter morphology	3155	HMGCL	OMIM:246450
HP:0002500	Abnormal cerebral white matter morphology	8789	FBP2	OMIM:619864
HP:0002500	Abnormal cerebral white matter morphology	5277	PIGA	OMIM:300868
HP:0002500	Abnormal cerebral white matter morphology	2705	GJB1	OMIM:302800
HP:0002500	Abnormal cerebral white matter morphology	3908	LAMA2	OMIM:618138
HP:0002500	Abnormal cerebral white matter morphology	2218	FKTN	ORPHA:370980
HP:0002500	Abnormal cerebral white matter morphology	2218	FKTN	OMIM:613152
HP:0002500	Abnormal cerebral white matter morphology	729920	CRPPA	ORPHA:370980
HP:0002500	Abnormal cerebral white matter morphology	10585	POMT1	ORPHA:370980
HP:0002500	Abnormal cerebral white matter morphology	26834	RNU4-2	OMIM:620851
HP:0002500	Abnormal cerebral white matter morphology	2697	GJA1	OMIM:164200
HP:0002500	Abnormal cerebral white matter morphology	80185	TTI2	ORPHA:391307
HP:0002500	Abnormal cerebral white matter morphology	9997	SCO2	OMIM:604377
HP:0002500	Abnormal cerebral white matter morphology	953	ENTPD1	ORPHA:401810
HP:0002500	Abnormal cerebral white matter morphology	953	ENTPD1	OMIM:615683
HP:0002500	Abnormal cerebral white matter morphology	113612	CYP2U1	OMIM:615030
HP:0002500	Abnormal cerebral white matter morphology	113612	CYP2U1	ORPHA:320411
HP:0002500	Abnormal cerebral white matter morphology	57187	THOC2	OMIM:300957
HP:0002500	Abnormal cerebral white matter morphology	64849	SLC13A3	OMIM:618384
HP:0002500	Abnormal cerebral white matter morphology	35	ACADS	OMIM:201470
HP:0002500	Abnormal cerebral white matter morphology	92609	TIMM50	OMIM:617698
HP:0002500	Abnormal cerebral white matter morphology	79753	SNIP1	OMIM:614501
HP:0002500	Abnormal cerebral white matter morphology	1497	CTNS	ORPHA:411629
HP:0002500	Abnormal cerebral white matter morphology	10134	BCAP31	ORPHA:369942
HP:0002500	Abnormal cerebral white matter morphology	57459	GATAD2B	ORPHA:363686
HP:0002500	Abnormal cerebral white matter morphology	79813	EHMT1	ORPHA:261652
HP:0002500	Abnormal cerebral white matter morphology	58508	KMT2C	ORPHA:261652
HP:0002500	Abnormal cerebral white matter morphology	440138	ALG11	ORPHA:280071
HP:0002500	Abnormal cerebral white matter morphology	6182	MRPL12	OMIM:618951
HP:0002500	Abnormal cerebral white matter morphology	11041	B4GAT1	OMIM:615287
HP:0002500	Abnormal cerebral white matter morphology	134353	LSM11	OMIM:619486
HP:0002500	Abnormal cerebral white matter morphology	5192	PEX10	OMIM:614871
HP:0002500	Abnormal cerebral white matter morphology	2670	GFAP	ORPHA:363717
HP:0002500	Abnormal cerebral white matter morphology	9409	PEX16	OMIM:614877
HP:0002500	Abnormal cerebral white matter morphology	51473	DCDC2	ORPHA:84081
HP:0002500	Abnormal cerebral white matter morphology	91147	TMEM67	ORPHA:84081
HP:0002500	Abnormal cerebral white matter morphology	6509	SLC1A4	OMIM:616657
HP:0002500	Abnormal cerebral white matter morphology	57704	GBA2	ORPHA:320391
HP:0002500	Abnormal cerebral white matter morphology	3423	IDS	ORPHA:217093
HP:0002500	Abnormal cerebral white matter morphology	23314	SATB2	ORPHA:576283
HP:0002500	Abnormal cerebral white matter morphology	4854	NOTCH3	ORPHA:136
HP:0002500	Abnormal cerebral white matter morphology	9101	USP8	ORPHA:401795
HP:0002500	Abnormal cerebral white matter morphology	1436	CSF1R	OMIM:221820
HP:0002500	Abnormal cerebral white matter morphology	55739	NAXD	OMIM:618321
HP:0002500	Abnormal cerebral white matter morphology	51	ACOX1	OMIM:618960
HP:0002500	Abnormal cerebral white matter morphology	5528	PPP2R5D	ORPHA:457279
HP:0002500	Abnormal cerebral white matter morphology	2186	BPTF	OMIM:617755
HP:0002500	Abnormal cerebral white matter morphology	3785	KCNQ2	ORPHA:439218
HP:0002500	Abnormal cerebral white matter morphology	283989	TSEN54	OMIM:277470
HP:0002500	Abnormal cerebral white matter morphology	57731	SPTBN4	OMIM:617519
HP:0002500	Abnormal cerebral white matter morphology	84153	RNASEH2C	OMIM:610329
HP:0002500	Abnormal cerebral white matter morphology	1807	DPYS	OMIM:222748
HP:0002500	Abnormal cerebral white matter morphology	5832	ALDH18A1	ORPHA:447753
HP:0002500	Abnormal cerebral white matter morphology	114034	TOE1	ORPHA:284339
HP:0002500	Abnormal cerebral white matter morphology	9562	MINPP1	ORPHA:284339
HP:0002500	Abnormal cerebral white matter morphology	87178	PNPT1	OMIM:608703
HP:0002500	Abnormal cerebral white matter morphology	23309	SIN3B	ORPHA:500166
HP:0002500	Abnormal cerebral white matter morphology	25942	SIN3A	ORPHA:500166
HP:0002500	Abnormal cerebral white matter morphology	11277	TREX1	ORPHA:247691
HP:0002500	Abnormal cerebral white matter morphology	55181	SMG8	OMIM:619268
HP:0002500	Abnormal cerebral white matter morphology	84842	HPDL	OMIM:619026
HP:0002500	Abnormal cerebral white matter morphology	58497	PRUNE1	OMIM:617481
HP:0002500	Abnormal cerebral white matter morphology	23503	ZFYVE26	ORPHA:100996
HP:0002500	Abnormal cerebral white matter morphology	4208	MEF2C	OMIM:613443
HP:0002500	Abnormal cerebral white matter morphology	25978	CHMP2B	ORPHA:275864
HP:0002500	Abnormal cerebral white matter morphology	25978	CHMP2B	ORPHA:100070
HP:0002500	Abnormal cerebral white matter morphology	5663	PSEN1	ORPHA:275864
HP:0002500	Abnormal cerebral white matter morphology	5663	PSEN1	ORPHA:100070
HP:0002500	Abnormal cerebral white matter morphology	2896	GRN	ORPHA:275864
HP:0002500	Abnormal cerebral white matter morphology	2896	GRN	ORPHA:100070
HP:0002500	Abnormal cerebral white matter morphology	54664	TMEM106B	ORPHA:275864
HP:0002500	Abnormal cerebral white matter morphology	54664	TMEM106B	ORPHA:100070
HP:0002500	Abnormal cerebral white matter morphology	8878	SQSTM1	ORPHA:275864
HP:0002500	Abnormal cerebral white matter morphology	4137	MAPT	ORPHA:275864
HP:0002500	Abnormal cerebral white matter morphology	4137	MAPT	ORPHA:100070
HP:0002500	Abnormal cerebral white matter morphology	54209	TREM2	ORPHA:275864
HP:0002500	Abnormal cerebral white matter morphology	54209	TREM2	ORPHA:100070
HP:0002500	Abnormal cerebral white matter morphology	7415	VCP	ORPHA:275864
HP:0002500	Abnormal cerebral white matter morphology	7415	VCP	ORPHA:100070
HP:0002500	Abnormal cerebral white matter morphology	7319	UBE2A	ORPHA:163956
HP:0002500	Abnormal cerebral white matter morphology	284111	SLC13A5	OMIM:615905
HP:0002500	Abnormal cerebral white matter morphology	165918	RNF168	ORPHA:420741
HP:0002500	Abnormal cerebral white matter morphology	80816	ASXL3	ORPHA:352577
HP:0002500	Abnormal cerebral white matter morphology	410	ARSA	OMIM:250100
HP:0002500	Abnormal cerebral white matter morphology	10717	AP4B1	OMIM:614066
HP:0002500	Abnormal cerebral white matter morphology	10717	AP4B1	ORPHA:280763
HP:0002500	Abnormal cerebral white matter morphology	51501	HIKESHI	OMIM:616881
HP:0002500	Abnormal cerebral white matter morphology	55823	VPS11	ORPHA:466934
HP:0002500	Abnormal cerebral white matter morphology	1593	CYP27A1	OMIM:213700
HP:0002500	Abnormal cerebral white matter morphology	8818	DPM2	ORPHA:329178
HP:0002500	Abnormal cerebral white matter morphology	51091	SEPSECS	OMIM:613811
HP:0002500	Abnormal cerebral white matter morphology	81570	CLPB	OMIM:619835
HP:0002500	Abnormal cerebral white matter morphology	90624	LYRM7	OMIM:615838
HP:0002500	Abnormal cerebral white matter morphology	85358	SHANK3	OMIM:606232
HP:0002500	Abnormal cerebral white matter morphology	25914	RTTN	ORPHA:468631
HP:0002500	Abnormal cerebral white matter morphology	285362	SUMF1	OMIM:272200
HP:0002500	Abnormal cerebral white matter morphology	5660	PSAP	OMIM:249900
HP:0002500	Abnormal cerebral white matter morphology	5660	PSAP	OMIM:611721
HP:0002500	Abnormal cerebral white matter morphology	5660	PSAP	ORPHA:206436
HP:0002500	Abnormal cerebral white matter morphology	54344	DPM3	OMIM:618992
HP:0002500	Abnormal cerebral white matter morphology	122961	ISCA2	OMIM:616370
HP:0002500	Abnormal cerebral white matter morphology	55159	RFWD3	OMIM:617784
HP:0002500	Abnormal cerebral white matter morphology	4010	LMX1B	ORPHA:495818
HP:0002500	Abnormal cerebral white matter morphology	6812	STXBP1	ORPHA:495818
HP:0002500	Abnormal cerebral white matter morphology	284217	LAMA1	OMIM:615960
HP:0002500	Abnormal cerebral white matter morphology	271	AMPD2	OMIM:615686
HP:0002500	Abnormal cerebral white matter morphology	271	AMPD2	ORPHA:401805
HP:0002500	Abnormal cerebral white matter morphology	23400	ATP13A2	OMIM:617225
HP:0002500	Abnormal cerebral white matter morphology	23400	ATP13A2	ORPHA:513436
HP:0002500	Abnormal cerebral white matter morphology	3781	KCNN2	OMIM:619725
HP:0002500	Abnormal cerebral white matter morphology	9215	LARGE1	OMIM:608840
HP:0002500	Abnormal cerebral white matter morphology	9215	LARGE1	ORPHA:370968
HP:0002500	Abnormal cerebral white matter morphology	29925	GMPPB	ORPHA:370968
HP:0002500	Abnormal cerebral white matter morphology	29954	POMT2	ORPHA:370968
HP:0002500	Abnormal cerebral white matter morphology	10059	DNM1L	ORPHA:98673
HP:0002500	Abnormal cerebral white matter morphology	4976	OPA1	ORPHA:98673
HP:0002500	Abnormal cerebral white matter morphology	9179	AP4M1	ORPHA:280763
HP:0002500	Abnormal cerebral white matter morphology	11154	AP4S1	ORPHA:280763
HP:0002500	Abnormal cerebral white matter morphology	23431	AP4E1	ORPHA:280763
HP:0002500	Abnormal cerebral white matter morphology	6748	SSR4	ORPHA:370927
HP:0002500	Abnormal cerebral white matter morphology	7317	UBA1	ORPHA:1145
HP:0002500	Abnormal cerebral white matter morphology	5879	RAC1	ORPHA:500159
HP:0002500	Abnormal cerebral white matter morphology	1282	COL4A1	OMIM:611773
HP:0002500	Abnormal cerebral white matter morphology	8560	DEGS1	OMIM:618404
HP:0002500	Abnormal cerebral white matter morphology	10352	WARS2	ORPHA:572798
HP:0002500	Abnormal cerebral white matter morphology	93627	TBCK	ORPHA:488632
HP:0002500	Abnormal cerebral white matter morphology	79152	FA2H	OMIM:612319
HP:0002500	Abnormal cerebral white matter morphology	760	CA2	ORPHA:2785
HP:0002500	Abnormal cerebral white matter morphology	54	ACP5	ORPHA:1855
HP:0002500	Abnormal cerebral white matter morphology	4668	NAGA	OMIM:609242
HP:0002500	Abnormal cerebral white matter morphology	257	ALX3	OMIM:136760
HP:0002500	Abnormal cerebral white matter morphology	257	ALX3	ORPHA:391474
HP:0002500	Abnormal cerebral white matter morphology	8092	ALX1	ORPHA:306542
HP:0002500	Abnormal cerebral white matter morphology	435	ASL	ORPHA:23
HP:0002500	Abnormal cerebral white matter morphology	22827	PUF60	ORPHA:508498
HP:0002500	Abnormal cerebral white matter morphology	80267	EDEM3	OMIM:619493
HP:0002500	Abnormal cerebral white matter morphology	5091	PC	OMIM:266150
HP:0002500	Abnormal cerebral white matter morphology	4718	NDUFC2	OMIM:619170
HP:0002500	Abnormal cerebral white matter morphology	55621	TRMT1	OMIM:618302
HP:0002500	Abnormal cerebral white matter morphology	197258	FCSK	OMIM:618324
HP:0002500	Abnormal cerebral white matter morphology	79029	AFG2B	OMIM:619616
HP:0002500	Abnormal cerebral white matter morphology	57479	PRR12	OMIM:619539
HP:0002500	Abnormal cerebral white matter morphology	51002	TPRKB	OMIM:617731
HP:0002500	Abnormal cerebral white matter morphology	57514	ARHGAP31	OMIM:100300
HP:0002500	Abnormal cerebral white matter morphology	57514	ARHGAP31	ORPHA:974
HP:0002500	Abnormal cerebral white matter morphology	3098	HK1	OMIM:618547
HP:0002500	Abnormal cerebral white matter morphology	23259	DDHD2	ORPHA:320380
HP:0002500	Abnormal cerebral white matter morphology	5927	KDM5A	OMIM:620820
HP:0002500	Abnormal cerebral white matter morphology	9361	LONP1	ORPHA:79243
HP:0002500	Abnormal cerebral white matter morphology	5160	PDHA1	ORPHA:79243
HP:0002500	Abnormal cerebral white matter morphology	8496	PPFIBP1	OMIM:620024
HP:0002500	Abnormal cerebral white matter morphology	5162	PDHB	ORPHA:255138
HP:0002500	Abnormal cerebral white matter morphology	8621	CDK13	OMIM:617360
HP:0002500	Abnormal cerebral white matter morphology	7543	ZFX	OMIM:301118
HP:0002500	Abnormal cerebral white matter morphology	375387	NRROS	OMIM:618875
HP:0002500	Abnormal cerebral white matter morphology	57505	AARS2	OMIM:615889
HP:0002500	Abnormal cerebral white matter morphology	200424	TET3	OMIM:618798
HP:0002500	Abnormal cerebral white matter morphology	55753	OGDHL	OMIM:619701
HP:0002500	Abnormal cerebral white matter morphology	196528	ARID2	OMIM:617808
HP:0002500	Abnormal cerebral white matter morphology	3516	RBPJ	ORPHA:974
HP:0002500	Abnormal cerebral white matter morphology	4851	NOTCH1	ORPHA:974
HP:0002500	Abnormal cerebral white matter morphology	57572	DOCK6	ORPHA:974
HP:0002500	Abnormal cerebral white matter morphology	285203	EOGT	ORPHA:974
HP:0002500	Abnormal cerebral white matter morphology	54567	DLL4	ORPHA:974
HP:0002500	Abnormal cerebral white matter morphology	4841	NONO	ORPHA:466791
HP:0002500	Abnormal cerebral white matter morphology	4841	NONO	OMIM:300967
HP:0002500	Abnormal cerebral white matter morphology	9791	PTDSS1	OMIM:151050
HP:0002500	Abnormal cerebral white matter morphology	29899	GPSM2	OMIM:604213
HP:0002500	Abnormal cerebral white matter morphology	58499	ZNF462	ORPHA:502430
HP:0002500	Abnormal cerebral white matter morphology	9692	PRORP	OMIM:619737
HP:0002500	Abnormal cerebral white matter morphology	4659	PPP1R12A	OMIM:618820
HP:0002500	Abnormal cerebral white matter morphology	51807	TUBA8	ORPHA:250972
HP:0002500	Abnormal cerebral white matter morphology	5361	PLXNA1	OMIM:619955
HP:0002500	Abnormal cerebral white matter morphology	374969	SVBP	OMIM:618569
HP:0002500	Abnormal cerebral white matter morphology	11267	SNF8	OMIM:620784
HP:0002500	Abnormal cerebral white matter morphology	11267	SNF8	OMIM:620783
HP:0002500	Abnormal cerebral white matter morphology	84081	NSRP1	OMIM:620001
HP:0002500	Abnormal cerebral white matter morphology	124454	EARS2	OMIM:614924
HP:0002500	Abnormal cerebral white matter morphology	91647	ATPAF2	OMIM:604273
HP:0002500	Abnormal cerebral white matter morphology	79228	THOC6	ORPHA:363444
HP:0002500	Abnormal cerebral white matter morphology	23258	DENND5A	OMIM:617281
HP:0002500	Abnormal cerebral white matter morphology	10524	KAT5	OMIM:619103
HP:0002500	Abnormal cerebral white matter morphology	205327	C2orf69	OMIM:619423
HP:0002500	Abnormal cerebral white matter morphology	22978	NT5C2	OMIM:613162
HP:0002500	Abnormal cerebral white matter morphology	5283	PIGH	OMIM:618010
HP:0002500	Abnormal cerebral white matter morphology	23287	AGTPBP1	OMIM:618276
HP:0002500	Abnormal cerebral white matter morphology	3313	HSPA9	OMIM:616854
HP:0002500	Abnormal cerebral white matter morphology	116461	TSEN15	ORPHA:2524
HP:0002500	Abnormal cerebral white matter morphology	79042	TSEN34	ORPHA:2524
HP:0002500	Abnormal cerebral white matter morphology	80746	TSEN2	ORPHA:2524
HP:0002500	Abnormal cerebral white matter morphology	55210	ATAD3A	OMIM:618810
HP:0002500	Abnormal cerebral white matter morphology	1642	DDB1	OMIM:619426
HP:0002500	Abnormal cerebral white matter morphology	79633	FAT4	ORPHA:314679
HP:0002500	Abnormal cerebral white matter morphology	8642	DCHS1	ORPHA:314679
HP:0002500	Abnormal cerebral white matter morphology	4713	NDUFB7	OMIM:620135
HP:0002500	Abnormal cerebral white matter morphology	291	SLC25A4	ORPHA:254892
HP:0002500	Abnormal cerebral white matter morphology	56652	TWNK	ORPHA:254892
HP:0002500	Abnormal cerebral white matter morphology	11232	POLG2	ORPHA:254892
HP:0002500	Abnormal cerebral white matter morphology	8635	RNASET2	OMIM:612951
HP:0002500	Abnormal cerebral white matter morphology	23394	ADNP	ORPHA:404448
HP:0002500	Abnormal cerebral white matter morphology	5286	PIK3C2A	ORPHA:557003
HP:0002500	Abnormal cerebral white matter morphology	7248	TSC1	OMIM:607341
HP:0002500	Abnormal cerebral white matter morphology	7249	TSC2	OMIM:607341
HP:0002500	Abnormal cerebral white matter morphology	728294	D2HGDH	OMIM:600721
HP:0002500	Abnormal cerebral white matter morphology	10535	RNASEH2A	ORPHA:51
HP:0002500	Abnormal cerebral white matter morphology	25939	SAMHD1	ORPHA:51
HP:0002500	Abnormal cerebral white matter morphology	79621	RNASEH2B	ORPHA:51
HP:0002500	Abnormal cerebral white matter morphology	103	ADAR	ORPHA:51
HP:0002500	Abnormal cerebral white matter morphology	100147744	RNU7-1	ORPHA:51
HP:0002500	Abnormal cerebral white matter morphology	64135	IFIH1	ORPHA:51
HP:0002500	Abnormal cerebral white matter morphology	83480	PUS3	ORPHA:488627
HP:0002500	Abnormal cerebral white matter morphology	10166	SLC25A15	ORPHA:415
HP:0002500	Abnormal cerebral white matter morphology	90952	ESAM	OMIM:620371
HP:0002500	Abnormal cerebral white matter morphology	5296	PIK3R2	OMIM:603387
HP:0002500	Abnormal cerebral white matter morphology	51256	TBC1D7	OMIM:248000
HP:0002500	Abnormal cerebral white matter morphology	22983	MAST1	OMIM:618273
HP:0002500	Abnormal cerebral white matter morphology	4849	CNOT3	OMIM:618672
HP:0002500	Abnormal cerebral white matter morphology	51780	KDM3B	OMIM:618846
HP:0002500	Abnormal cerebral white matter morphology	7283	TUBG1	OMIM:615412
HP:0002500	Abnormal cerebral white matter morphology	57282	SLC4A10	OMIM:620746
HP:0002500	Abnormal cerebral white matter morphology	894	CCND2	OMIM:615938
HP:0002500	Abnormal cerebral white matter morphology	54496	PRMT7	ORPHA:464288
HP:0002500	Abnormal cerebral white matter morphology	113246	C12orf57	OMIM:218340
HP:0002500	Abnormal cerebral white matter morphology	157680	VPS13B	OMIM:216550
HP:0002500	Abnormal cerebral white matter morphology	158	ADSL	ORPHA:46
HP:0002500	Abnormal cerebral white matter morphology	3735	KARS1	OMIM:619196
HP:0002500	Abnormal cerebral white matter morphology	135	ADORA2A	ORPHA:363549
HP:0002500	Abnormal cerebral white matter morphology	790955	UQCC3	OMIM:616111
HP:0002500	Abnormal cerebral white matter morphology	2193	FARSA	OMIM:619013
HP:0002500	Abnormal cerebral white matter morphology	387787	LIPT2	OMIM:617668
HP:0002500	Abnormal cerebral white matter morphology	7468	NSD2	OMIM:194190
HP:0002500	Abnormal cerebral white matter morphology	10815	CPLX1	OMIM:194190
HP:0002500	Abnormal cerebral white matter morphology	1487	CTBP1	OMIM:194190
HP:0002500	Abnormal cerebral white matter morphology	53834	FGFRL1	OMIM:194190
HP:0002500	Abnormal cerebral white matter morphology	3954	LETM1	OMIM:194190
HP:0002500	Abnormal cerebral white matter morphology	4952	OCRL	OMIM:309000
HP:0002500	Abnormal cerebral white matter morphology	5654	HTRA1	OMIM:600142
HP:0002500	Abnormal cerebral white matter morphology	84197	POMK	ORPHA:370959
HP:0002500	Abnormal cerebral white matter morphology	55624	POMGNT1	ORPHA:370959
HP:0002500	Abnormal cerebral white matter morphology	8925	HERC1	ORPHA:457359
HP:0002500	Abnormal cerebral white matter morphology	54453	RIN2	OMIM:613075
HP:0002500	Abnormal cerebral white matter morphology	64857	PLEKHG2	OMIM:616763
HP:0002500	Abnormal cerebral white matter morphology	220296	HEPACAM	OMIM:613925
HP:0002500	Abnormal cerebral white matter morphology	220296	HEPACAM	OMIM:613926
HP:0002500	Abnormal cerebral white matter morphology	2720	GLB1	ORPHA:79255
HP:0002500	Abnormal cerebral white matter morphology	6792	CDKL5	ORPHA:1934
HP:0002500	Abnormal cerebral white matter morphology	3736	KCNA1	ORPHA:1934
HP:0002500	Abnormal cerebral white matter morphology	9091	PIGQ	ORPHA:1934
HP:0002500	Abnormal cerebral white matter morphology	140679	SLC32A1	ORPHA:1934
HP:0002500	Abnormal cerebral white matter morphology	2775	GNAO1	ORPHA:1934
HP:0002500	Abnormal cerebral white matter morphology	81603	TRIM8	ORPHA:1934
HP:0002500	Abnormal cerebral white matter morphology	2902	GRIN1	ORPHA:1934
HP:0002500	Abnormal cerebral white matter morphology	2902	GRIN1	ORPHA:208447
HP:0002500	Abnormal cerebral white matter morphology	150094	SIK1	ORPHA:1934
HP:0002500	Abnormal cerebral white matter morphology	8573	CASK	ORPHA:1934
HP:0002500	Abnormal cerebral white matter morphology	23312	DMXL2	ORPHA:1934
HP:0002500	Abnormal cerebral white matter morphology	2917	GRM7	ORPHA:1934
HP:0002500	Abnormal cerebral white matter morphology	170302	ARX	ORPHA:1934
HP:0002500	Abnormal cerebral white matter morphology	11284	PNKP	ORPHA:1934
HP:0002500	Abnormal cerebral white matter morphology	51227	PIGP	ORPHA:1934
HP:0002500	Abnormal cerebral white matter morphology	6324	SCN1B	ORPHA:1934
HP:0002500	Abnormal cerebral white matter morphology	4761	NEUROD2	ORPHA:1934
HP:0002500	Abnormal cerebral white matter morphology	9990	SLC12A6	OMIM:218000
HP:0002500	Abnormal cerebral white matter morphology	28962	OSTM1	OMIM:259720
HP:0002500	Abnormal cerebral white matter morphology	1513	CTSK	ORPHA:763
HP:0002500	Abnormal cerebral white matter morphology	9289	ADGRG1	OMIM:606854
HP:0002500	Abnormal cerebral white matter morphology	9289	ADGRG1	ORPHA:101070
HP:0002500	Abnormal cerebral white matter morphology	26227	PHGDH	OMIM:601815
HP:0002500	Abnormal cerebral white matter morphology	3295	HSD17B4	OMIM:261515
HP:0002500	Abnormal cerebral white matter morphology	404672	GTF2H5	ORPHA:33364
HP:0002500	Abnormal cerebral white matter morphology	833	CARS1	ORPHA:33364
HP:0002500	Abnormal cerebral white matter morphology	2068	ERCC2	ORPHA:33364
HP:0002500	Abnormal cerebral white matter morphology	7737	RNF113A	ORPHA:33364
HP:0002500	Abnormal cerebral white matter morphology	136647	MPLKIP	ORPHA:33364
HP:0002500	Abnormal cerebral white matter morphology	6897	TARS1	ORPHA:33364
HP:0002500	Abnormal cerebral white matter morphology	2071	ERCC3	ORPHA:33364
HP:0002500	Abnormal cerebral white matter morphology	2961	GTF2E2	ORPHA:33364
HP:0002500	Abnormal cerebral white matter morphology	6663	SOX10	OMIM:609136
HP:0002500	Abnormal cerebral white matter morphology	5728	PTEN	ORPHA:101070
HP:0002500	Abnormal cerebral white matter morphology	57192	MCOLN1	OMIM:252650
HP:0002500	Abnormal cerebral white matter morphology	23209	MLC1	OMIM:604004
HP:0002500	Abnormal cerebral white matter morphology	1161	ERCC8	ORPHA:90324
HP:0002500	Abnormal cerebral white matter morphology	1161	ERCC8	ORPHA:90322
HP:0002500	Abnormal cerebral white matter morphology	2074	ERCC6	ORPHA:90324
HP:0002500	Abnormal cerebral white matter morphology	2074	ERCC6	OMIM:133540
HP:0002500	Abnormal cerebral white matter morphology	2074	ERCC6	ORPHA:90322
HP:0002500	Abnormal cerebral white matter morphology	727676	SNORD118	ORPHA:542310
HP:0002500	Abnormal cerebral white matter morphology	79903	NAA60	OMIM:620786
HP:0002500	Abnormal cerebral white matter morphology	2067	ERCC1	ORPHA:90322
HP:0002500	Abnormal cerebral white matter morphology	9851	KIAA0753	ORPHA:475
HP:0002500	Abnormal cerebral white matter morphology	9851	KIAA0753	ORPHA:2754
HP:0002500	Abnormal cerebral white matter morphology	5147	PDE6D	ORPHA:475
HP:0002500	Abnormal cerebral white matter morphology	5147	PDE6D	ORPHA:2754
HP:0002500	Abnormal cerebral white matter morphology	79600	TCTN1	ORPHA:475
HP:0002500	Abnormal cerebral white matter morphology	79600	TCTN1	ORPHA:564
HP:0002500	Abnormal cerebral white matter morphology	8481	OFD1	ORPHA:475
HP:0002500	Abnormal cerebral white matter morphology	8481	OFD1	ORPHA:2754
HP:0002500	Abnormal cerebral white matter morphology	51684	SUFU	ORPHA:475
HP:0002500	Abnormal cerebral white matter morphology	153241	CEP120	ORPHA:475
HP:0002500	Abnormal cerebral white matter morphology	65250	CPLANE1	ORPHA:475
HP:0002500	Abnormal cerebral white matter morphology	65250	CPLANE1	ORPHA:2754
HP:0002500	Abnormal cerebral white matter morphology	200894	ARL13B	ORPHA:475
HP:0002500	Abnormal cerebral white matter morphology	9731	CEP104	ORPHA:475
HP:0002500	Abnormal cerebral white matter morphology	219844	HYLS1	ORPHA:475
HP:0002500	Abnormal cerebral white matter morphology	23247	KATNIP	ORPHA:475
HP:0002500	Abnormal cerebral white matter morphology	219854	TMEM218	ORPHA:475
HP:0002500	Abnormal cerebral white matter morphology	54903	MKS1	ORPHA:475
HP:0002500	Abnormal cerebral white matter morphology	54903	MKS1	ORPHA:564
HP:0002500	Abnormal cerebral white matter morphology	95681	CEP41	ORPHA:475
HP:0002500	Abnormal cerebral white matter morphology	56623	INPP5E	ORPHA:475
HP:0002500	Abnormal cerebral white matter morphology	56623	INPP5E	ORPHA:1454
HP:0002500	Abnormal cerebral white matter morphology	26123	TCTN3	ORPHA:475
HP:0002500	Abnormal cerebral white matter morphology	26123	TCTN3	ORPHA:2754
HP:0002500	Abnormal cerebral white matter morphology	26123	TCTN3	ORPHA:564
HP:0002500	Abnormal cerebral white matter morphology	79867	TCTN2	ORPHA:475
HP:0002500	Abnormal cerebral white matter morphology	79867	TCTN2	ORPHA:564
HP:0002500	Abnormal cerebral white matter morphology	80776	B9D2	ORPHA:475
HP:0002500	Abnormal cerebral white matter morphology	80776	B9D2	ORPHA:564
HP:0002500	Abnormal cerebral white matter morphology	10464	PIBF1	ORPHA:475
HP:0002500	Abnormal cerebral white matter morphology	80210	ARMC9	ORPHA:475
HP:0002500	Abnormal cerebral white matter morphology	23116	TOGARAM1	ORPHA:475
HP:0002500	Abnormal cerebral white matter morphology	25776	CBY1	ORPHA:475
HP:0002500	Abnormal cerebral white matter morphology	27077	B9D1	ORPHA:475
HP:0002500	Abnormal cerebral white matter morphology	27077	B9D1	ORPHA:564
HP:0002500	Abnormal cerebral white matter morphology	403	ARL3	ORPHA:475
HP:0002500	Abnormal cerebral white matter morphology	80173	IFT74	ORPHA:475
HP:0002500	Abnormal cerebral white matter morphology	65062	TMEM237	ORPHA:475
HP:0002500	Abnormal cerebral white matter morphology	65062	TMEM237	ORPHA:2318
HP:0002500	Abnormal cerebral white matter morphology	65062	TMEM237	ORPHA:564
HP:0002500	Abnormal cerebral white matter morphology	3981	LIG4	ORPHA:235
HP:0002500	Abnormal cerebral white matter morphology	54888	NSUN2	ORPHA:235
HP:0002500	Abnormal cerebral white matter morphology	27238	GPKOW	ORPHA:2570
HP:0002500	Abnormal cerebral white matter morphology	6197	RPS6KA3	ORPHA:192
HP:0002500	Abnormal cerebral white matter morphology	3265	HRAS	ORPHA:2612
HP:0002500	Abnormal cerebral white matter morphology	3845	KRAS	ORPHA:2612
HP:0002500	Abnormal cerebral white matter morphology	4893	NRAS	ORPHA:2612
HP:0002500	Abnormal cerebral white matter morphology	64327	LMBR1	ORPHA:2378
HP:0002500	Abnormal cerebral white matter morphology	673	BRAF	OMIM:115150
HP:0002500	Abnormal cerebral white matter morphology	95	ACY1	ORPHA:137754
HP:0002500	Abnormal cerebral white matter morphology	145173	B3GLCT	ORPHA:709
HP:0002500	Abnormal cerebral white matter morphology	6925	TCF4	ORPHA:2896
HP:0002500	Abnormal cerebral white matter morphology	64324	NSD1	ORPHA:821
HP:0002500	Abnormal cerebral white matter morphology	10297	APC2	ORPHA:821
HP:0002500	Abnormal cerebral white matter morphology	154881	KCTD7	ORPHA:263516
HP:0002500	Abnormal cerebral white matter morphology	4036	LRP2	OMIM:222448
HP:0002500	Abnormal cerebral white matter morphology	4036	LRP2	ORPHA:2143
HP:0002500	Abnormal cerebral white matter morphology	374654	KIF7	ORPHA:36
HP:0002500	Abnormal cerebral white matter morphology	374654	KIF7	OMIM:200990
HP:0002500	Abnormal cerebral white matter morphology	374654	KIF7	ORPHA:2754
HP:0002500	Abnormal cerebral white matter morphology	51633	OTUD6B	ORPHA:505237
HP:0002500	Abnormal cerebral white matter morphology	4774	NFIA	ORPHA:401986
HP:0002500	Abnormal cerebral white matter morphology	26275	HIBCH	ORPHA:88639
HP:0002500	Abnormal cerebral white matter morphology	54968	TMEM70	ORPHA:1194
HP:0002500	Abnormal cerebral white matter morphology	51715	RAB23	OMIM:201000
HP:0002500	Abnormal cerebral white matter morphology	84162	BLTP1	OMIM:617822
HP:0002500	Abnormal cerebral white matter morphology	2314	FLII	ORPHA:819
HP:0002500	Abnormal cerebral white matter morphology	23096	IQSEC2	ORPHA:819
HP:0002500	Abnormal cerebral white matter morphology	10743	RAI1	ORPHA:819
HP:0002500	Abnormal cerebral white matter morphology	10522	DEAF1	ORPHA:819
HP:0002500	Abnormal cerebral white matter morphology	1717	DHCR7	ORPHA:818
HP:0002500	Abnormal cerebral white matter morphology	10472	ZBTB18	ORPHA:36367
HP:0002500	Abnormal cerebral white matter morphology	51114	ZDHHC9	ORPHA:776
HP:0002500	Abnormal cerebral white matter morphology	65109	UPF3B	ORPHA:776
HP:0002500	Abnormal cerebral white matter morphology	9968	MED12	ORPHA:776
HP:0002500	Abnormal cerebral white matter morphology	9968	MED12	ORPHA:93932
HP:0002500	Abnormal cerebral white matter morphology	5189	PEX1	OMIM:214100
HP:0002500	Abnormal cerebral white matter morphology	55691	FRMD4A	OMIM:616819
HP:0002500	Abnormal cerebral white matter morphology	10479	SLC9A6	ORPHA:85278
HP:0002500	Abnormal cerebral white matter morphology	10225	CD96	ORPHA:1308
HP:0002500	Abnormal cerebral white matter morphology	100151683	RNU4ATAC	ORPHA:1824
HP:0002500	Abnormal cerebral white matter morphology	79583	TMEM231	ORPHA:2318
HP:0002500	Abnormal cerebral white matter morphology	79583	TMEM231	ORPHA:2754
HP:0002500	Abnormal cerebral white matter morphology	79583	TMEM231	ORPHA:564
HP:0002500	Abnormal cerebral white matter morphology	51524	TMEM138	ORPHA:2318
HP:0002500	Abnormal cerebral white matter morphology	23090	ZNF423	ORPHA:2318
HP:0002500	Abnormal cerebral white matter morphology	80184	CEP290	ORPHA:2318
HP:0002500	Abnormal cerebral white matter morphology	80184	CEP290	ORPHA:564
HP:0002500	Abnormal cerebral white matter morphology	57545	CC2D2A	ORPHA:2318
HP:0002500	Abnormal cerebral white matter morphology	57545	CC2D2A	ORPHA:564
HP:0002500	Abnormal cerebral white matter morphology	57545	CC2D2A	ORPHA:1454
HP:0002500	Abnormal cerebral white matter morphology	22930	RAB3GAP1	ORPHA:2510
HP:0002500	Abnormal cerebral white matter morphology	22931	RAB18	ORPHA:2510
HP:0002500	Abnormal cerebral white matter morphology	128637	TBC1D20	ORPHA:2510
HP:0002500	Abnormal cerebral white matter morphology	10210	TOPORS	ORPHA:2754
HP:0002500	Abnormal cerebral white matter morphology	317662	FAM149B1	ORPHA:2754
HP:0002500	Abnormal cerebral white matter morphology	8260	NAA10	ORPHA:568
HP:0002500	Abnormal cerebral white matter morphology	54880	BCOR	ORPHA:568
HP:0002500	Abnormal cerebral white matter morphology	2260	FGFR1	ORPHA:2117
HP:0002500	Abnormal cerebral white matter morphology	84314	TMEM107	ORPHA:564
HP:0002500	Abnormal cerebral white matter morphology	57096	RPGRIP1	ORPHA:564
HP:0002500	Abnormal cerebral white matter morphology	79770	TXNDC15	ORPHA:564
HP:0002500	Abnormal cerebral white matter morphology	652	BMP4	OMIM:607932
HP:0002500	Abnormal cerebral white matter morphology	9184	BUB3	ORPHA:1052
HP:0002500	Abnormal cerebral white matter morphology	699	BUB1	ORPHA:1052
HP:0002500	Abnormal cerebral white matter morphology	9702	CEP57	ORPHA:1052
HP:0002500	Abnormal cerebral white matter morphology	9319	TRIP13	ORPHA:1052
HP:0002500	Abnormal cerebral white matter morphology	701	BUB1B	ORPHA:1052
HP:0002500	Abnormal cerebral white matter morphology	29980	DONSON	OMIM:251230
HP:0002500	Abnormal cerebral white matter morphology	4702	NDUFA8	OMIM:619272
HP:0002500	Abnormal cerebral white matter morphology	4099	MAG	OMIM:616680
HP:0002500	Abnormal cerebral white matter morphology	4125	MAN2B1	OMIM:248500
HP:0002500	Abnormal cerebral white matter morphology	777	CACNA1E	OMIM:618285
HP:0002500	Abnormal cerebral white matter morphology	64207	IRF2BPL	OMIM:618088
HP:0002500	Abnormal cerebral white matter morphology	51728	POLR3K	OMIM:619310
HP:0002500	Abnormal cerebral white matter morphology	10273	STUB1	ORPHA:412057
HP:0002500	Abnormal cerebral white matter morphology	9255	AIMP1	OMIM:260600
HP:0002500	Abnormal cerebral white matter morphology	51692	CPSF3	OMIM:619876
HP:0002500	Abnormal cerebral white matter morphology	4191	MDH2	OMIM:617339
HP:0002500	Abnormal cerebral white matter morphology	27072	VPS41	OMIM:619389
HP:0002500	Abnormal cerebral white matter morphology	91875	TTC5	OMIM:619244
HP:0002500	Abnormal cerebral white matter morphology	23065	EMC1	OMIM:616875
HP:0002500	Abnormal cerebral white matter morphology	23065	EMC1	ORPHA:480898
HP:0002500	Abnormal cerebral white matter morphology	51761	ATP8A2	OMIM:615268
HP:0002500	Abnormal cerebral white matter morphology	8890	EIF2B4	OMIM:620314
HP:0002500	Abnormal cerebral white matter morphology	79944	L2HGDH	OMIM:236792
HP:0002500	Abnormal cerebral white matter morphology	4558	MT-TF	ORPHA:550
HP:0002500	Abnormal cerebral white matter morphology	4572	MT-TQ	ORPHA:550
HP:0002500	Abnormal cerebral white matter morphology	4512	MT-CO1	ORPHA:550
HP:0002500	Abnormal cerebral white matter morphology	4513	MT-CO2	ORPHA:550
HP:0002500	Abnormal cerebral white matter morphology	4514	MT-CO3	ORPHA:550
HP:0002500	Abnormal cerebral white matter morphology	4578	MT-TW	ORPHA:550
HP:0002500	Abnormal cerebral white matter morphology	4540	MT-ND5	ORPHA:550
HP:0002500	Abnormal cerebral white matter morphology	4541	MT-ND6	ORPHA:550
HP:0002500	Abnormal cerebral white matter morphology	4535	MT-ND1	ORPHA:550
HP:0002500	Abnormal cerebral white matter morphology	4538	MT-ND4	ORPHA:550
HP:0002500	Abnormal cerebral white matter morphology	4567	MT-TL1	ORPHA:550
HP:0002500	Abnormal cerebral white matter morphology	4574	MT-TS1	ORPHA:550
HP:0002500	Abnormal cerebral white matter morphology	4575	MT-TS2	ORPHA:550
HP:0002500	Abnormal cerebral white matter morphology	4564	MT-TH	ORPHA:550
HP:0002500	Abnormal cerebral white matter morphology	29968	PSAT1	ORPHA:284417
HP:0002500	Abnormal cerebral white matter morphology	4677	NARS1	OMIM:619091
HP:0002500	Abnormal cerebral white matter morphology	23028	KDM1A	ORPHA:477993
HP:0002500	Abnormal cerebral white matter morphology	23028	KDM1A	OMIM:616728
HP:0002500	Abnormal cerebral white matter morphology	51075	TMX2	OMIM:618730
HP:0002500	Abnormal cerebral white matter morphology	112939	NACC1	ORPHA:500545
HP:0002500	Abnormal cerebral white matter morphology	6513	SLC2A1	ORPHA:168577
HP:0002500	Abnormal cerebral white matter morphology	10466	COG5	ORPHA:263487
HP:0002500	Abnormal cerebral white matter morphology	7874	USP7	ORPHA:500055
HP:0002500	Abnormal cerebral white matter morphology	63899	NSUN3	OMIM:619012
HP:0002500	Abnormal cerebral white matter morphology	10195	ALG3	ORPHA:79321
HP:0002500	Abnormal cerebral white matter morphology	200205	IBA57	ORPHA:468661
HP:0002500	Abnormal cerebral white matter morphology	57531	HACE1	ORPHA:464282
HP:0002500	Abnormal cerebral white matter morphology	60684	TRAPPC11	ORPHA:369840
HP:0002500	Abnormal cerebral white matter morphology	128240	NAXE	OMIM:617186
HP:0002500	Abnormal cerebral white matter morphology	3658	IREB2	OMIM:618451
HP:0002500	Abnormal cerebral white matter morphology	10398	MYL9	OMIM:619365
HP:0002500	Abnormal cerebral white matter morphology	1641	DCX	ORPHA:2148
HP:0002500	Abnormal cerebral white matter morphology	9373	PLAA	ORPHA:521426
HP:0002500	Abnormal cerebral white matter morphology	84668	HYCC1	OMIM:610532
HP:0002500	Abnormal cerebral white matter morphology	6311	ATXN2	ORPHA:98756
HP:0002500	Abnormal cerebral white matter morphology	443	ASPA	ORPHA:314911
HP:0002500	Abnormal cerebral white matter morphology	3417	IDH1	ORPHA:99646
HP:0002500	Abnormal cerebral white matter morphology	1267	CNP	OMIM:619071
HP:0002500	Abnormal cerebral white matter morphology	2760	GM2A	ORPHA:309246
HP:0002500	Abnormal cerebral white matter morphology	1630	DCC	OMIM:617542
HP:0002500	Abnormal cerebral white matter morphology	23499	MACF1	ORPHA:572013
HP:0002500	Abnormal cerebral white matter morphology	387119	CEP85L	ORPHA:572013
HP:0002500	Abnormal cerebral white matter morphology	84320	ACBD6	OMIM:620785
HP:0002500	Abnormal cerebral white matter morphology	9150	CTDP1	ORPHA:48431
HP:0002500	Abnormal cerebral white matter morphology	84504	NKX6-2	ORPHA:527497
HP:0002500	Abnormal cerebral white matter morphology	7862	BRPF1	OMIM:617333
HP:0002500	Abnormal cerebral white matter morphology	23516	SLC39A14	OMIM:617013
HP:0002500	Abnormal cerebral white matter morphology	23516	SLC39A14	ORPHA:521406
HP:0002500	Abnormal cerebral white matter morphology	79853	TM4SF20	OMIM:615432
HP:0002500	Abnormal cerebral white matter morphology	54973	INTS11	OMIM:620428
HP:0002500	Abnormal cerebral white matter morphology	4762	NEUROG1	OMIM:620469
HP:0002500	Abnormal cerebral white matter morphology	85365	ALG2	ORPHA:79326
HP:0002500	Abnormal cerebral white matter morphology	1822	ATN1	ORPHA:101
HP:0002500	Abnormal cerebral white matter morphology	7343	UBTF	ORPHA:500180
HP:0002500	Abnormal cerebral white matter morphology	7343	UBTF	OMIM:617672
HP:0002500	Abnormal cerebral white matter morphology	51112	TRAPPC12	ORPHA:500144
HP:0002500	Abnormal cerebral white matter morphology	221496	LEMD2	OMIM:619322
HP:0002500	Abnormal cerebral white matter morphology	5917	RARS1	ORPHA:438114
HP:0002500	Abnormal cerebral white matter morphology	1806	DPYD	ORPHA:1675
HP:0002500	Abnormal cerebral white matter morphology	7453	WARS1	OMIM:620317
HP:0002500	Abnormal cerebral white matter morphology	4953	ODC1	ORPHA:544488
HP:0002500	Abnormal cerebral white matter morphology	5290	PIK3CA	ORPHA:99802
HP:0002500	Abnormal cerebral white matter morphology	10000	AKT3	ORPHA:99802
HP:0002500	Abnormal cerebral white matter morphology	8913	CACNA1G	ORPHA:458803
HP:0002500	Abnormal cerebral white matter morphology	91869	RFT1	ORPHA:244310
HP:0002500	Abnormal cerebral white matter morphology	6572	SLC18A3	OMIM:617239
HP:0002500	Abnormal cerebral white matter morphology	815	CAMK2A	OMIM:617798
HP:0002500	Abnormal cerebral white matter morphology	4358	MPV17	OMIM:256810
HP:0002500	Abnormal cerebral white matter morphology	29920	PYCR2	ORPHA:481152
HP:0002500	Abnormal cerebral white matter morphology	2055	CLN8	ORPHA:1947
HP:0002500	Abnormal cerebral white matter morphology	6821	SUOX	OMIM:272300
HP:0002500	Abnormal cerebral white matter morphology	2583	B4GALNT1	ORPHA:101006
HP:0002500	Abnormal cerebral white matter morphology	191	AHCY	ORPHA:88618
HP:0002500	Abnormal cerebral white matter morphology	6390	SDHB	OMIM:619224
HP:0002500	Abnormal cerebral white matter morphology	9907	AP5Z1	ORPHA:306511
HP:0002500	Abnormal cerebral white matter morphology	9907	AP5Z1	OMIM:613647
HP:0002500	Abnormal cerebral white matter morphology	27133	KCNH5	OMIM:620537
HP:0002500	Abnormal cerebral white matter morphology	55154	MSTO1	ORPHA:502423
HP:0002500	Abnormal cerebral white matter morphology	4001	LMNB1	ORPHA:99027
HP:0002500	Abnormal cerebral white matter morphology	5297	PI4KA	OMIM:619708
HP:0002500	Abnormal cerebral white matter morphology	84065	TMEM222	OMIM:619470
HP:0002500	Abnormal cerebral white matter morphology	7555	CNBP	OMIM:602668
HP:0002500	Abnormal cerebral white matter morphology	6134	RPL10	OMIM:300998
HP:0002500	Abnormal cerebral white matter morphology	5058	PAK1	OMIM:618158
HP:0002500	Abnormal cerebral white matter morphology	92335	STRADA	ORPHA:500533
HP:0002500	Abnormal cerebral white matter morphology	25974	MMACHC	ORPHA:79282
HP:0002500	Abnormal cerebral white matter morphology	2783	GNB2	OMIM:619503
HP:0002500	Abnormal cerebral white matter morphology	25782	RAB3GAP2	OMIM:212720
HP:0002500	Abnormal cerebral white matter morphology	85465	SELENOI	OMIM:618768
HP:0002500	Abnormal cerebral white matter morphology	59	ACTA2	OMIM:613834
HP:0002500	Abnormal cerebral white matter morphology	80036	TRPM3	OMIM:620224
HP:0002500	Abnormal cerebral white matter morphology	10060	ABCC9	OMIM:619719
HP:0002500	Abnormal cerebral white matter morphology	27183	VPS4A	OMIM:619273
HP:0002500	Abnormal cerebral white matter morphology	55703	POLR3B	OMIM:614381
HP:0002500	Abnormal cerebral white matter morphology	26235	FBXL4	OMIM:615471
HP:0002500	Abnormal cerebral white matter morphology	9759	HDAC4	OMIM:619797
HP:0002500	Abnormal cerebral white matter morphology	2972	BRF1	OMIM:616202
HP:0002500	Abnormal cerebral white matter morphology	83548	COG3	OMIM:620546
HP:0002500	Abnormal cerebral white matter morphology	6091	ROBO1	OMIM:620305
HP:0002500	Abnormal cerebral white matter morphology	4897	NRCAM	OMIM:619833
HP:0002500	Abnormal cerebral white matter morphology	2653	GCSH	OMIM:620423
HP:0002500	Abnormal cerebral white matter morphology	347734	SLC35B2	OMIM:620269
HP:0002500	Abnormal cerebral white matter morphology	3008	H1-4	OMIM:617537
HP:0002500	Abnormal cerebral white matter morphology	55733	HHAT	OMIM:600092
HP:0002500	Abnormal cerebral white matter morphology	1119	CHKA	OMIM:620023
HP:0002500	Abnormal cerebral white matter morphology	9690	UBE3C	OMIM:620270
HP:0002500	Abnormal cerebral white matter morphology	1729	DIAPH1	ORPHA:477814
HP:0002500	Abnormal cerebral white matter morphology	3020	H3-3A	OMIM:619720
HP:0002500	Abnormal cerebral white matter morphology	55182	RNF220	OMIM:619688
HP:0002500	Abnormal cerebral white matter morphology	9442	MED27	OMIM:619286
HP:0002500	Abnormal cerebral white matter morphology	1855	DVL1	OMIM:616331
HP:0002500	Abnormal cerebral white matter morphology	166378	AFG2A	OMIM:616577
HP:0002500	Abnormal cerebral white matter morphology	318	NUDT2	OMIM:619844
HP:0002500	Abnormal cerebral white matter morphology	3097	HIVEP2	OMIM:616977
HP:0002500	Abnormal cerebral white matter morphology	84520	GON7	OMIM:619603
HP:0002500	Abnormal cerebral white matter morphology	25885	POLR1A	OMIM:620675
HP:0002500	Abnormal cerebral white matter morphology	56246	MRAP	OMIM:607398
HP:0002500	Abnormal cerebral white matter morphology	79158	GNPTAB	OMIM:252500
HP:0002500	Abnormal cerebral white matter morphology	161725	OTUD7A	OMIM:620790
HP:0002500	Abnormal cerebral white matter morphology	51324	SPG21	OMIM:248900
HP:0002500	Abnormal cerebral white matter morphology	6595	SMARCA2	OMIM:619293
HP:0002500	Abnormal cerebral white matter morphology	5934	RBL2	OMIM:619690
HP:0002500	Abnormal cerebral white matter morphology	23250	ATP11A	OMIM:619851
HP:0002500	Abnormal cerebral white matter morphology	203068	TUBB	OMIM:615771
HP:0002500	Abnormal cerebral white matter morphology	9698	PUM1	OMIM:620719
HP:0002500	Abnormal cerebral white matter morphology	6601	SMARCC2	OMIM:618362
HP:0002500	Abnormal cerebral white matter morphology	92255	LMBRD2	OMIM:619694
HP:0002500	Abnormal cerebral white matter morphology	23522	KAT6B	OMIM:606170
HP:0002500	Abnormal cerebral white matter morphology	3796	KIF2A	OMIM:615411
HP:0002500	Abnormal cerebral white matter morphology	11080	DNAJB4	OMIM:620326
HP:0002500	Abnormal cerebral white matter morphology	7920	ABHD16A	OMIM:619735
HP:0002500	Abnormal cerebral white matter morphology	819	CAMLG	OMIM:620201
HP:0002500	Abnormal cerebral white matter morphology	51608	GET4	OMIM:620200
HP:0002500	Abnormal cerebral white matter morphology	54806	AHI1	OMIM:608629
HP:0002500	Abnormal cerebral white matter morphology	2898	GRIK2	OMIM:619580
HP:0002500	Abnormal cerebral white matter morphology	26175	LYSET	OMIM:619345
HP:0002500	Abnormal cerebral white matter morphology	283987	HID1	OMIM:619983
HP:0002500	Abnormal cerebral white matter morphology	5442	POLRMT	OMIM:619743
HP:0002500	Abnormal cerebral white matter morphology	127833	SYT2	OMIM:619461
HP:0002500	Abnormal cerebral white matter morphology	4338	MOCS2	OMIM:252160
HP:0002500	Abnormal cerebral white matter morphology	1974	EIF4A2	OMIM:620455
HP:0002500	Abnormal cerebral white matter morphology	79736	TEFM	OMIM:620451
HP:0002500	Abnormal cerebral white matter morphology	7074	TIAM1	OMIM:619908
HP:0002500	Abnormal cerebral white matter morphology	57003	CCDC47	OMIM:618268
HP:0002500	Abnormal cerebral white matter morphology	1182	CLCN3	OMIM:619512
HP:0002500	Abnormal cerebral white matter morphology	1182	CLCN3	OMIM:619517
HP:0002500	Abnormal cerebral white matter morphology	23126	POGZ	OMIM:616364
HP:0002500	Abnormal cerebral white matter morphology	8558	CDK10	OMIM:617694
HP:0002500	Abnormal cerebral white matter morphology	1859	DYRK1A	OMIM:614104
HP:0002500	Abnormal cerebral white matter morphology	9681	DEPDC5	OMIM:620504
HP:0002500	Abnormal cerebral white matter morphology	23040	MYT1L	OMIM:616521
HP:0002500	Abnormal cerebral white matter morphology	3839	KPNA3	OMIM:620106
HP:0002500	Abnormal cerebral white matter morphology	80232	WDR26	OMIM:617616
HP:0002500	Abnormal cerebral white matter morphology	11340	EXOSC8	ORPHA:2254
HP:0002500	Abnormal cerebral white matter morphology	5393	EXOSC9	ORPHA:2254
HP:0002500	Abnormal cerebral white matter morphology	51010	EXOSC3	ORPHA:2254
HP:0002500	Abnormal cerebral white matter morphology	7443	VRK1	ORPHA:2254
HP:0002500	Abnormal cerebral white matter morphology	91137	SLC25A46	ORPHA:2254
HP:0002500	Abnormal cerebral white matter morphology	116115	ZNF526	OMIM:619877
HP:0002500	Abnormal cerebral white matter morphology	4329	ALDH6A1	OMIM:614105
HP:0002500	Abnormal cerebral white matter morphology	93210	PGAP3	OMIM:615716
HP:0002500	Abnormal cerebral white matter morphology	83475	DOHH	OMIM:620066
HP:0002500	Abnormal cerebral white matter morphology	11198	SUPT16H	OMIM:619480
HP:0002500	Abnormal cerebral white matter morphology	5605	MAP2K2	OMIM:615280
HP:0002500	Abnormal cerebral white matter morphology	54828	BCAS3	OMIM:619641
HP:0002500	Abnormal cerebral white matter morphology	374354	NHLRC2	OMIM:618278
HP:0002500	Abnormal cerebral white matter morphology	9276	COPB2	OMIM:619884
HP:0002500	Abnormal cerebral white matter morphology	2316	FLNA	OMIM:300049
HP:0002500	Abnormal cerebral white matter morphology	23031	MAST3	OMIM:620115
HP:0002500	Abnormal cerebral white matter morphology	7143	TNR	OMIM:619653
HP:0002500	Abnormal cerebral white matter morphology	4123	MAN2C1	OMIM:619775
HP:0002500	Abnormal cerebral white matter morphology	4781	NFIB	OMIM:618286
HP:0002500	Abnormal cerebral white matter morphology	111	ADCY5	OMIM:619651
HP:0002500	Abnormal cerebral white matter morphology	1107	CHD3	OMIM:618205
HP:0002500	Abnormal cerebral white matter morphology	9439	MED23	OMIM:614249
HP:0002500	Abnormal cerebral white matter morphology	2801	GOLGA2	OMIM:620240
HP:0002500	Abnormal cerebral white matter morphology	10159	ATP6AP2	OMIM:300423
HP:0002500	Abnormal cerebral white matter morphology	1892	ECHS1	OMIM:616277
HP:0002500	Abnormal cerebral white matter morphology	51117	COQ4	OMIM:616276
HP:0002500	Abnormal cerebral white matter morphology	2752	GLUL	OMIM:620806
HP:0002500	Abnormal cerebral white matter morphology	221927	BRAT1	OMIM:614498
HP:0002500	Abnormal cerebral white matter morphology	10664	CTCF	OMIM:615502
HP:0002500	Abnormal cerebral white matter morphology	5908	RAP1B	OMIM:620654
HP:0002500	Abnormal cerebral white matter morphology	267	AMFR	OMIM:620379
HP:0002500	Abnormal cerebral white matter morphology	3708	ITPR1	OMIM:206700
HP:0002500	Abnormal cerebral white matter morphology	9900	SV2A	OMIM:620772
HP:0002500	Abnormal cerebral white matter morphology	10533	ATG7	OMIM:619422
HP:0002500	Abnormal cerebral white matter morphology	57688	ZSWIM6	OMIM:603671
HP:0002500	Abnormal cerebral white matter morphology	10367	MICU1	OMIM:615673
HP:0002500	Abnormal cerebral white matter morphology	55252	ASXL2	OMIM:617190
HP:0002500	Abnormal cerebral white matter morphology	1718	DHCR24	OMIM:602398
HP:0002500	Abnormal cerebral white matter morphology	63925	ZNF335	OMIM:615095
HP:0002500	Abnormal cerebral white matter morphology	4704	NDUFA9	OMIM:618247
HP:0002500	Abnormal cerebral white matter morphology	375	ARF1	OMIM:618185
HP:0002500	Abnormal cerebral white matter morphology	440	ASNS	OMIM:615574
HP:0002500	Abnormal cerebral white matter morphology	343450	KCNT2	OMIM:617771
HP:0002500	Abnormal cerebral white matter morphology	84631	SLITRK2	OMIM:301107
HP:0002500	Abnormal cerebral white matter morphology	27247	NFU1	OMIM:620938
HP:0002500	Abnormal cerebral white matter morphology	5119	CHMP1A	OMIM:614961
HP:0002500	Abnormal cerebral white matter morphology	26047	CNTNAP2	OMIM:610042
HP:0002500	Abnormal cerebral white matter morphology	9487	PIGL	OMIM:280000
HP:0002500	Abnormal cerebral white matter morphology	6709	SPTAN1	OMIM:613477
HP:0002500	Abnormal cerebral white matter morphology	2495	FTH1	OMIM:620669
HP:0002500	Abnormal cerebral white matter morphology	1660	DHX9	OMIM:620988
HP:0002500	Abnormal cerebral white matter morphology	64919	BCL11B	OMIM:617237
HP:0002500	Abnormal cerebral white matter morphology	54187	NANS	OMIM:610442
HP:0002500	Abnormal cerebral white matter morphology	56270	WDR45B	OMIM:617977
HP:0002500	Abnormal cerebral white matter morphology	54675	CRLS1	OMIM:620167
HP:0002500	Abnormal cerebral white matter morphology	26576	SRPK3	OMIM:301134
HP:0002500	Abnormal cerebral white matter morphology	4695	NDUFA2	OMIM:618235
HP:0002500	Abnormal cerebral white matter morphology	1496	CTNNA2	OMIM:618174
HP:0002500	Abnormal cerebral white matter morphology	51506	UFC1	OMIM:618076
HP:0002500	Abnormal cerebral white matter morphology	4700	NDUFA6	OMIM:618253
HP:0002500	Abnormal cerebral white matter morphology	473	RERE	OMIM:616975
HP:0002500	Abnormal cerebral white matter morphology	7280	TUBB2A	OMIM:615763
HP:0002500	Abnormal cerebral white matter morphology	24142	NAA80	OMIM:620830
HP:0002500	Abnormal cerebral white matter morphology	55361	PI4K2A	OMIM:620732
HP:0002500	Abnormal cerebral white matter morphology	27445	PCLO	OMIM:608027
HP:0002500	Abnormal cerebral white matter morphology	9230	RAB11B	OMIM:617807
HP:0002500	Abnormal cerebral white matter morphology	10978	CLP1	OMIM:615803
HP:0002500	Abnormal cerebral white matter morphology	26153	KIF26A	OMIM:620156
HP:0002500	Abnormal cerebral white matter morphology	10430	TMEM147	OMIM:620075
HP:0002500	Abnormal cerebral white matter morphology	54704	PDP1	ORPHA:79246
HP:0002500	Abnormal cerebral white matter morphology	2548	GAA	ORPHA:308552
HP:0002500	Abnormal cerebral white matter morphology	2355	FOSL2	OMIM:620789
HP:0002500	Abnormal cerebral white matter morphology	129685	TAF8	OMIM:619972
HP:0002500	Abnormal cerebral white matter morphology	10073	SNUPN	OMIM:620793
HP:0002500	Abnormal cerebral white matter morphology	4047	LSS	ORPHA:2850
HP:0002500	Abnormal cerebral white matter morphology	197	AHSG	ORPHA:2850
HP:0002500	Abnormal cerebral white matter morphology	3694	ITGB6	ORPHA:2850
HP:0002501	Spasticity of pharyngeal muscles	57679	ALS2	OMIM:205100
HP:0002501	Spasticity of pharyngeal muscles	57679	ALS2	OMIM:606353
HP:0002514	Cerebral calcification	4558	MT-TF	ORPHA:550
HP:0002514	Cerebral calcification	4572	MT-TQ	ORPHA:550
HP:0002514	Cerebral calcification	4512	MT-CO1	ORPHA:550
HP:0002514	Cerebral calcification	4513	MT-CO2	ORPHA:550
HP:0002514	Cerebral calcification	4514	MT-CO3	ORPHA:550
HP:0002514	Cerebral calcification	4578	MT-TW	ORPHA:550
HP:0002514	Cerebral calcification	4540	MT-ND5	ORPHA:550
HP:0002514	Cerebral calcification	4541	MT-ND6	ORPHA:550
HP:0002514	Cerebral calcification	4535	MT-ND1	ORPHA:550
HP:0002514	Cerebral calcification	4538	MT-ND4	ORPHA:550
HP:0002514	Cerebral calcification	4567	MT-TL1	ORPHA:550
HP:0002514	Cerebral calcification	4574	MT-TS1	ORPHA:550
HP:0002514	Cerebral calcification	4575	MT-TS2	ORPHA:550
HP:0002514	Cerebral calcification	4564	MT-TH	ORPHA:550
HP:0002514	Cerebral calcification	113612	CYP2U1	OMIM:615030
HP:0002514	Cerebral calcification	1161	ERCC8	ORPHA:90324
HP:0002514	Cerebral calcification	1161	ERCC8	ORPHA:90321
HP:0002514	Cerebral calcification	1161	ERCC8	OMIM:216400
HP:0002514	Cerebral calcification	9636	ISG15	OMIM:616126
HP:0002514	Cerebral calcification	79903	NAA60	OMIM:620786
HP:0002514	Cerebral calcification	2072	ERCC4	ORPHA:90321
HP:0002514	Cerebral calcification	5932	RBBP8	OMIM:606744
HP:0002514	Cerebral calcification	2767	GNA11	OMIM:615361
HP:0002514	Cerebral calcification	2625	GATA3	OMIM:146255
HP:0002514	Cerebral calcification	5698	PSMB9	OMIM:620796
HP:0002514	Cerebral calcification	10059	DNM1L	ORPHA:98673
HP:0002514	Cerebral calcification	4976	OPA1	ORPHA:98673
HP:0002514	Cerebral calcification	90	ACVR1	OMIM:135100
HP:0002514	Cerebral calcification	91137	SLC25A46	OMIM:616505
HP:0002514	Cerebral calcification	63901	FAM111A	OMIM:127000
HP:0002514	Cerebral calcification	63901	FAM111A	ORPHA:93325
HP:0002514	Cerebral calcification	56984	PSMG2	OMIM:619183
HP:0002514	Cerebral calcification	846	CASR	OMIM:601198
HP:0002514	Cerebral calcification	23404	EXOSC2	OMIM:617763
HP:0002514	Cerebral calcification	2071	ERCC3	OMIM:610651
HP:0002514	Cerebral calcification	5696	PSMB8	OMIM:256040
HP:0002514	Cerebral calcification	1497	CTNS	OMIM:219800
HP:0002514	Cerebral calcification	26277	TINF2	OMIM:268130
HP:0002514	Cerebral calcification	26277	TINF2	OMIM:613990
HP:0002514	Cerebral calcification	26277	TINF2	ORPHA:3322
HP:0002514	Cerebral calcification	26277	TINF2	ORPHA:1775
HP:0002514	Cerebral calcification	6309	SC5D	ORPHA:46059
HP:0002514	Cerebral calcification	3265	HRAS	ORPHA:2612
HP:0002514	Cerebral calcification	3845	KRAS	ORPHA:2612
HP:0002514	Cerebral calcification	3845	KRAS	ORPHA:2396
HP:0002514	Cerebral calcification	4893	NRAS	ORPHA:2612
HP:0002514	Cerebral calcification	8496	PPFIBP1	OMIM:620024
HP:0002514	Cerebral calcification	113235	SLC46A1	ORPHA:90045
HP:0002514	Cerebral calcification	1436	CSF1R	OMIM:618476
HP:0002514	Cerebral calcification	5649	RELN	ORPHA:89844
HP:0002514	Cerebral calcification	10300	KATNB1	ORPHA:89844
HP:0002514	Cerebral calcification	54820	NDE1	ORPHA:89844
HP:0002514	Cerebral calcification	51741	WWOX	OMIM:616211
HP:0002514	Cerebral calcification	5155	PDGFB	OMIM:615483
HP:0002514	Cerebral calcification	5155	PDGFB	ORPHA:1980
HP:0002514	Cerebral calcification	65082	VPS33A	OMIM:617303
HP:0002514	Cerebral calcification	65082	VPS33A	ORPHA:505248
HP:0002514	Cerebral calcification	5053	PAH	OMIM:261600
HP:0002514	Cerebral calcification	5053	PAH	ORPHA:79254
HP:0002514	Cerebral calcification	55651	NHP2	OMIM:613987
HP:0002514	Cerebral calcification	55651	NHP2	ORPHA:1775
HP:0002514	Cerebral calcification	389827	MYMK	ORPHA:1358
HP:0002514	Cerebral calcification	101929726	MYMX	ORPHA:1358
HP:0002514	Cerebral calcification	56975	FAM20C	OMIM:259775
HP:0002514	Cerebral calcification	79709	COLGALT1	OMIM:618360
HP:0002514	Cerebral calcification	8671	SLC4A4	OMIM:604278
HP:0002514	Cerebral calcification	54	ACP5	OMIM:607944
HP:0002514	Cerebral calcification	54	ACP5	ORPHA:1855
HP:0002514	Cerebral calcification	889	KRIT1	OMIM:116860
HP:0002514	Cerebral calcification	727676	SNORD118	OMIM:614561
HP:0002514	Cerebral calcification	727676	SNORD118	ORPHA:542310
HP:0002514	Cerebral calcification	103	ADAR	OMIM:615010
HP:0002514	Cerebral calcification	103	ADAR	ORPHA:51
HP:0002514	Cerebral calcification	3394	IRF8	OMIM:226990
HP:0002514	Cerebral calcification	11274	USP18	OMIM:617397
HP:0002514	Cerebral calcification	2068	ERCC2	ORPHA:1466
HP:0002514	Cerebral calcification	2067	ERCC1	ORPHA:1466
HP:0002514	Cerebral calcification	2074	ERCC6	ORPHA:1466
HP:0002514	Cerebral calcification	2073	ERCC5	ORPHA:1466
HP:0002514	Cerebral calcification	6573	SLC19A1	OMIM:620603
HP:0002514	Cerebral calcification	6773	STAT2	OMIM:618886
HP:0002514	Cerebral calcification	9213	XPR1	ORPHA:1980
HP:0002514	Cerebral calcification	5159	PDGFRB	ORPHA:1980
HP:0002514	Cerebral calcification	57462	MYORG	ORPHA:1980
HP:0002514	Cerebral calcification	6575	SLC20A2	ORPHA:1980
HP:0002514	Cerebral calcification	58494	JAM2	ORPHA:1980
HP:0002514	Cerebral calcification	2260	FGFR1	ORPHA:2396
HP:0002514	Cerebral calcification	3117	HLA-DQA1	OMIM:212750
HP:0002514	Cerebral calcification	3119	HLA-DQB1	OMIM:212750
HP:0002514	Cerebral calcification	100506658	OCLN	ORPHA:1229
HP:0002514	Cerebral calcification	100506658	OCLN	OMIM:251290
HP:0002514	Cerebral calcification	2697	GJA1	ORPHA:2710
HP:0002514	Cerebral calcification	23258	DENND5A	OMIM:617281
HP:0002514	Cerebral calcification	1301	COL11A1	ORPHA:560
HP:0002514	Cerebral calcification	1280	COL2A1	ORPHA:85198
HP:0002514	Cerebral calcification	8635	RNASET2	OMIM:612951
HP:0002514	Cerebral calcification	139285	AMER1	ORPHA:2780
HP:0002514	Cerebral calcification	4644	MYO5A	ORPHA:79476
HP:0002514	Cerebral calcification	760	CA2	ORPHA:2785
HP:0002514	Cerebral calcification	760	CA2	OMIM:259730
HP:0002514	Cerebral calcification	1499	CTNNB1	ORPHA:54595
HP:0002514	Cerebral calcification	673	BRAF	ORPHA:54595
HP:0002514	Cerebral calcification	1075	CTSC	ORPHA:678
HP:0002514	Cerebral calcification	4953	ODC1	OMIM:619075
HP:0002514	Cerebral calcification	538	ATP7A	ORPHA:198
HP:0002514	Cerebral calcification	5167	ENPP1	ORPHA:51608
HP:0002514	Cerebral calcification	5167	ENPP1	ORPHA:758
HP:0002514	Cerebral calcification	368	ABCC6	ORPHA:51608
HP:0002514	Cerebral calcification	368	ABCC6	ORPHA:758
HP:0002514	Cerebral calcification	8905	AP1S2	ORPHA:85335
HP:0002514	Cerebral calcification	8905	AP1S2	OMIM:304340
HP:0002514	Cerebral calcification	3458	IFNG	OMIM:613254
HP:0002514	Cerebral calcification	7249	TSC2	OMIM:613254
HP:0002514	Cerebral calcification	5189	PEX1	ORPHA:3220
HP:0002514	Cerebral calcification	5190	PEX6	ORPHA:3220
HP:0002514	Cerebral calcification	7305	TYROBP	ORPHA:2770
HP:0002514	Cerebral calcification	54209	TREM2	ORPHA:2770
HP:0002514	Cerebral calcification	10056	FARSB	OMIM:613658
HP:0002514	Cerebral calcification	1836	SLC26A2	ORPHA:628
HP:0002514	Cerebral calcification	2776	GNAQ	ORPHA:624
HP:0002514	Cerebral calcification	2776	GNAQ	ORPHA:3205
HP:0002514	Cerebral calcification	26137	ZBTB20	OMIM:259050
HP:0002514	Cerebral calcification	6628	SNRPB	ORPHA:1393
HP:0002514	Cerebral calcification	100147744	RNU7-1	OMIM:619487
HP:0002514	Cerebral calcification	100147744	RNU7-1	ORPHA:51
HP:0002514	Cerebral calcification	57169	ZNFX1	OMIM:619644
HP:0002514	Cerebral calcification	1605	DAG1	OMIM:616538
HP:0002514	Cerebral calcification	7248	TSC1	OMIM:191100
HP:0002514	Cerebral calcification	6598	SMARCB1	ORPHA:99966
HP:0002514	Cerebral calcification	326	AIRE	ORPHA:3453
HP:0002514	Cerebral calcification	1893	ECM1	ORPHA:530
HP:0002514	Cerebral calcification	5727	PTCH1	ORPHA:377
HP:0002514	Cerebral calcification	8643	PTCH2	ORPHA:377
HP:0002514	Cerebral calcification	51684	SUFU	ORPHA:377
HP:0002514	Cerebral calcification	4256	MGP	OMIM:245150
HP:0002514	Cerebral calcification	9365	KL	OMIM:617994
HP:0002514	Cerebral calcification	351	APP	ORPHA:100006
HP:0002514	Cerebral calcification	5741	PTH	OMIM:146200
HP:0002514	Cerebral calcification	10312	TCIRG1	ORPHA:1782
HP:0002514	Cerebral calcification	55315	SLC29A3	ORPHA:1782
HP:0002514	Cerebral calcification	8792	TNFRSF11A	ORPHA:1782
HP:0002514	Cerebral calcification	25913	POT1	OMIM:620368
HP:0002514	Cerebral calcification	51750	RTEL1	ORPHA:3322
HP:0002514	Cerebral calcification	51750	RTEL1	ORPHA:1775
HP:0002514	Cerebral calcification	65057	ACD	ORPHA:3322
HP:0002514	Cerebral calcification	5073	PARN	ORPHA:3322
HP:0002514	Cerebral calcification	5073	PARN	ORPHA:1775
HP:0002514	Cerebral calcification	7015	TERT	ORPHA:3322
HP:0002514	Cerebral calcification	7015	TERT	ORPHA:1775
HP:0002514	Cerebral calcification	1736	DKC1	ORPHA:3322
HP:0002514	Cerebral calcification	1736	DKC1	ORPHA:1775
HP:0002514	Cerebral calcification	2778	GNAS	ORPHA:79443
HP:0002514	Cerebral calcification	2778	GNAS	ORPHA:79444
HP:0002514	Cerebral calcification	84153	RNASEH2C	OMIM:610329
HP:0002514	Cerebral calcification	84153	RNASEH2C	ORPHA:51
HP:0002514	Cerebral calcification	1376	CPT2	ORPHA:228308
HP:0002514	Cerebral calcification	11277	TREX1	ORPHA:247691
HP:0002514	Cerebral calcification	11277	TREX1	ORPHA:51
HP:0002514	Cerebral calcification	3735	KARS1	OMIM:619147
HP:0002514	Cerebral calcification	5860	QDPR	OMIM:261630
HP:0002514	Cerebral calcification	56160	NSMCE3	OMIM:617241
HP:0002514	Cerebral calcification	80169	CTC1	OMIM:612199
HP:0002514	Cerebral calcification	80169	CTC1	ORPHA:1775
HP:0002514	Cerebral calcification	79650	USB1	ORPHA:1775
HP:0002514	Cerebral calcification	55135	WRAP53	ORPHA:1775
HP:0002514	Cerebral calcification	4869	NPM1	ORPHA:1775
HP:0002514	Cerebral calcification	7012	TERC	ORPHA:1775
HP:0002514	Cerebral calcification	55505	NOP10	ORPHA:1775
HP:0002514	Cerebral calcification	7298	TYMS	ORPHA:1775
HP:0002514	Cerebral calcification	10535	RNASEH2A	OMIM:610333
HP:0002514	Cerebral calcification	10535	RNASEH2A	ORPHA:51
HP:0002514	Cerebral calcification	25939	SAMHD1	ORPHA:51
HP:0002514	Cerebral calcification	79621	RNASEH2B	ORPHA:51
HP:0002514	Cerebral calcification	134353	LSM11	ORPHA:51
HP:0002514	Cerebral calcification	64135	IFIH1	ORPHA:51
HP:0002514	Cerebral calcification	1188	CLCNKB	ORPHA:358
HP:0002514	Cerebral calcification	6559	SLC12A3	ORPHA:358
HP:0002514	Cerebral calcification	8803	SUCLA2	ORPHA:1933
HP:0002514	Cerebral calcification	90952	ESAM	OMIM:620371
HP:0002514	Cerebral calcification	4921	DDR2	OMIM:271665
HP:0002514	Cerebral calcification	57688	ZSWIM6	OMIM:603671
HP:0002514	Cerebral calcification	129607	CMPK2	OMIM:621018
HP:0002514	Cerebral calcification	6513	SLC2A1	OMIM:608885
HP:0002514	Cerebral calcification	6513	SLC2A1	ORPHA:168577
HP:0002503	Spinocerebellar tract degeneration	4287	ATXN3	OMIM:109150
HP:0002503	Spinocerebellar tract degeneration	4287	ATXN3	ORPHA:276238
HP:0002503	Spinocerebellar tract degeneration	4287	ATXN3	ORPHA:276244
HP:0002503	Spinocerebellar tract degeneration	4287	ATXN3	ORPHA:276241
HP:0002503	Spinocerebellar tract degeneration	6311	ATXN2	OMIM:183090
HP:0002503	Spinocerebellar tract degeneration	5575	PRKAR1B	ORPHA:412066
HP:0002503	Spinocerebellar tract degeneration	2705	GJB1	ORPHA:1175
HP:0002503	Spinocerebellar tract degeneration	2729	GCLC	ORPHA:33574
HP:0002503	Spinocerebellar tract degeneration	5354	PLP1	OMIM:312920
HP:0002503	Spinocerebellar tract degeneration	55775	TDP1	ORPHA:94124
HP:0002503	Spinocerebellar tract degeneration	85021	REPS1	OMIM:617916
HP:0002503	Spinocerebellar tract degeneration	6310	ATXN1	OMIM:164400
HP:0002503	Spinocerebellar tract degeneration	4125	MAN2B1	OMIM:248500
HP:0002504	Calcification of the small brain vessels	6575	SLC20A2	OMIM:213600
HP:0002504	Calcification of the small brain vessels	5159	PDGFRB	OMIM:213600
HP:0002504	Calcification of the small brain vessels	5155	PDGFB	OMIM:213600
HP:0002505	Loss of ambulation	773	CACNA1A	OMIM:183086
HP:0002505	Loss of ambulation	4099	MAG	OMIM:616680
HP:0002505	Loss of ambulation	92935	MARS2	OMIM:611390
HP:0002505	Loss of ambulation	3094	HINT1	ORPHA:324442
HP:0002505	Loss of ambulation	1144	CHRND	OMIM:616321
HP:0002505	Loss of ambulation	2132	EXT2	OMIM:616682
HP:0002505	Loss of ambulation	27247	NFU1	OMIM:620938
HP:0002505	Loss of ambulation	4137	MAPT	ORPHA:240094
HP:0002505	Loss of ambulation	50484	RRM2B	ORPHA:329336
HP:0002505	Loss of ambulation	246243	RNASEH1	ORPHA:329336
HP:0002505	Loss of ambulation	246243	RNASEH1	OMIM:616479
HP:0002505	Loss of ambulation	53371	NUP54	OMIM:620427
HP:0002505	Loss of ambulation	53371	NUP54	ORPHA:225154
HP:0002505	Loss of ambulation	54832	VPS13C	OMIM:616840
HP:0002505	Loss of ambulation	2066	ERBB4	OMIM:615515
HP:0002505	Loss of ambulation	1756	DMD	OMIM:310200
HP:0002505	Loss of ambulation	53616	ADAM22	OMIM:617933
HP:0002505	Loss of ambulation	7415	VCP	OMIM:167320
HP:0002505	Loss of ambulation	51117	COQ4	OMIM:620666
HP:0002505	Loss of ambulation	51117	COQ4	OMIM:616276
HP:0002505	Loss of ambulation	8291	DYSF	OMIM:253601
HP:0002505	Loss of ambulation	8291	DYSF	OMIM:606768
HP:0002505	Loss of ambulation	8291	DYSF	ORPHA:45448
HP:0002505	Loss of ambulation	57679	ALS2	OMIM:606353
HP:0002505	Loss of ambulation	4758	NEU1	ORPHA:93399
HP:0002505	Loss of ambulation	10049	DNAJB6	OMIM:603511
HP:0002505	Loss of ambulation	10049	DNAJB6	ORPHA:34516
HP:0002505	Loss of ambulation	4000	LMNA	OMIM:181350
HP:0002505	Loss of ambulation	4000	LMNA	OMIM:616516
HP:0002505	Loss of ambulation	4000	LMNA	OMIM:613205
HP:0002505	Loss of ambulation	5339	PLEC	ORPHA:254361
HP:0002505	Loss of ambulation	5660	PSAP	OMIM:249900
HP:0002505	Loss of ambulation	6792	CDKL5	ORPHA:3095
HP:0002505	Loss of ambulation	22854	NTNG1	ORPHA:3095
HP:0002505	Loss of ambulation	9568	GABBR2	ORPHA:3095
HP:0002505	Loss of ambulation	4204	MECP2	ORPHA:3095
HP:0002505	Loss of ambulation	8243	SMC1A	ORPHA:3095
HP:0002505	Loss of ambulation	2581	GALC	ORPHA:206443
HP:0002505	Loss of ambulation	3714	JAG2	OMIM:619566
HP:0002505	Loss of ambulation	729920	CRPPA	OMIM:616052
HP:0002505	Loss of ambulation	729920	CRPPA	ORPHA:352479
HP:0002505	Loss of ambulation	8893	EIF2B5	OMIM:620315
HP:0002505	Loss of ambulation	3145	HMBS	OMIM:620711
HP:0002505	Loss of ambulation	8891	EIF2B3	OMIM:620313
HP:0002505	Loss of ambulation	6443	SGCB	OMIM:604286
HP:0002505	Loss of ambulation	25885	POLR1A	OMIM:620675
HP:0002505	Loss of ambulation	9829	DNAJC6	OMIM:615528
HP:0002505	Loss of ambulation	10073	SNUPN	OMIM:620793
HP:0002505	Loss of ambulation	5189	PEX1	OMIM:214100
HP:0002505	Loss of ambulation	25778	DSTYK	OMIM:270750
HP:0002505	Loss of ambulation	343641	TGM6	OMIM:613908
HP:0002505	Loss of ambulation	29925	GMPPB	ORPHA:370968
HP:0002505	Loss of ambulation	79147	FKRP	ORPHA:370968
HP:0002505	Loss of ambulation	29954	POMT2	ORPHA:370968
HP:0002505	Loss of ambulation	9215	LARGE1	ORPHA:370968
HP:0002505	Loss of ambulation	10585	POMT1	ORPHA:370968
HP:0002505	Loss of ambulation	57190	SELENON	OMIM:602771
HP:0002505	Loss of ambulation	5071	PRKN	OMIM:600116
HP:0002505	Loss of ambulation	27235	COQ2	OMIM:607426
HP:0002505	Loss of ambulation	64601	VPS16	OMIM:619291
HP:0002505	Loss of ambulation	84340	GFM2	ORPHA:565624
HP:0002505	Loss of ambulation	8888	MCM3AP	OMIM:618124
HP:0002505	Loss of ambulation	7345	UCHL1	OMIM:615491
HP:0002505	Loss of ambulation	55572	FOXRED1	OMIM:618241
HP:0002505	Loss of ambulation	103	ADAR	OMIM:615010
HP:0002505	Loss of ambulation	103	ADAR	ORPHA:225154
HP:0002505	Loss of ambulation	64207	IRF2BPL	OMIM:618088
HP:0002505	Loss of ambulation	22954	TRIM32	OMIM:254110
HP:0002505	Loss of ambulation	4358	MPV17	OMIM:256810
HP:0002505	Loss of ambulation	2058	EPRS1	OMIM:617951
HP:0002505	Loss of ambulation	10342	TFG	OMIM:615658
HP:0002505	Loss of ambulation	55157	DARS2	ORPHA:137898
HP:0002505	Loss of ambulation	51704	GPRC5B	OMIM:620447
HP:0002505	Loss of ambulation	4625	MYH7	OMIM:255160
HP:0002505	Loss of ambulation	6445	SGCG	OMIM:253700
HP:0002505	Loss of ambulation	2010	EMD	OMIM:310300
HP:0002505	Loss of ambulation	9570	GOSR2	OMIM:620166
HP:0002505	Loss of ambulation	9570	GOSR2	OMIM:614018
HP:0002505	Loss of ambulation	54332	GDAP1	ORPHA:101097
HP:0002505	Loss of ambulation	10558	SPTLC1	OMIM:620285
HP:0002505	Loss of ambulation	823	CAPN1	OMIM:616907
HP:0002505	Loss of ambulation	9217	VAPB	ORPHA:209335
HP:0002505	Loss of ambulation	9217	VAPB	OMIM:608627
HP:0002505	Loss of ambulation	9217	VAPB	OMIM:182980
HP:0002505	Loss of ambulation	51102	MECR	OMIM:617282
HP:0002505	Loss of ambulation	84504	NKX6-2	OMIM:617560
HP:0002505	Loss of ambulation	79152	FA2H	ORPHA:329308
HP:0002505	Loss of ambulation	83636	C19orf12	OMIM:614298
HP:0002505	Loss of ambulation	83636	C19orf12	OMIM:615043
HP:0002505	Loss of ambulation	4700	NDUFA6	OMIM:618253
HP:0002505	Loss of ambulation	4041	LRP5	ORPHA:2788
HP:0002505	Loss of ambulation	3178	HNRNPA1	OMIM:615424
HP:0002505	Loss of ambulation	60	ACTB	OMIM:607371
HP:0002505	Loss of ambulation	1201	CLN3	OMIM:204200
HP:0002505	Loss of ambulation	23230	VPS13A	ORPHA:2388
HP:0002505	Loss of ambulation	54840	APTX	OMIM:208920
HP:0002505	Loss of ambulation	8398	PLA2G6	OMIM:612953
HP:0002505	Loss of ambulation	84668	HYCC1	OMIM:610532
HP:0002505	Loss of ambulation	353116	RILPL1	ORPHA:98897
HP:0002505	Loss of ambulation	10755	GIPC1	ORPHA:98897
HP:0002505	Loss of ambulation	29967	LRP12	ORPHA:98897
HP:0002505	Loss of ambulation	100996717	NOTCH2NLC	ORPHA:98897
HP:0002505	Loss of ambulation	3028	HSD17B10	ORPHA:391428
HP:0002505	Loss of ambulation	9997	SCO2	OMIM:604377
HP:0002505	Loss of ambulation	55697	VAC14	OMIM:617054
HP:0002505	Loss of ambulation	11154	AP4S1	OMIM:614067
HP:0002505	Loss of ambulation	9453	GGPS1	OMIM:619518
HP:0002505	Loss of ambulation	90624	LYRM7	OMIM:615838
HP:0002505	Loss of ambulation	6606	SMN1	OMIM:253400
HP:0002505	Loss of ambulation	6607	SMN2	OMIM:253400
HP:0002505	Loss of ambulation	80025	PANK2	OMIM:234200
HP:0002505	Loss of ambulation	3181	HNRNPA2B1	OMIM:620460
HP:0002505	Loss of ambulation	64419	MTMR14	OMIM:160150
HP:0002505	Loss of ambulation	1785	DNM2	OMIM:160150
HP:0002505	Loss of ambulation	6305	SBF1	OMIM:615284
HP:0002505	Loss of ambulation	55958	KLHL9	ORPHA:399081
HP:0002505	Loss of ambulation	2273	FHL1	OMIM:300717
HP:0002505	Loss of ambulation	4076	CAPRIN1	OMIM:620636
HP:0002505	Loss of ambulation	219285	SAMD9L	OMIM:619806
HP:0002505	Loss of ambulation	9409	PEX16	OMIM:614877
HP:0002505	Loss of ambulation	11149	POPDC1	OMIM:616812
HP:0002505	Loss of ambulation	3708	ITPR1	OMIM:117360
HP:0002505	Loss of ambulation	11160	ERLIN2	OMIM:620512
HP:0002505	Loss of ambulation	11155	LDB3	ORPHA:98912
HP:0002505	Loss of ambulation	10667	FARS2	ORPHA:466722
HP:0002505	Loss of ambulation	56652	TWNK	OMIM:271245
HP:0002505	Loss of ambulation	4508	MT-ATP6	ORPHA:225154
HP:0002505	Loss of ambulation	23636	NUP62	ORPHA:225154
HP:0002505	Loss of ambulation	56983	POGLUT1	OMIM:617232
HP:0002505	Loss of ambulation	6709	SPTAN1	OMIM:620528
HP:0002505	Loss of ambulation	1203	CLN5	OMIM:256731
HP:0002505	Loss of ambulation	6389	SDHA	ORPHA:3208
HP:0002505	Loss of ambulation	6390	SDHB	ORPHA:3208
HP:0002505	Loss of ambulation	6392	SDHD	ORPHA:3208
HP:0002505	Loss of ambulation	644096	SDHAF1	ORPHA:3208
HP:0002505	Loss of ambulation	6240	RRM1	OMIM:620647
HP:0002505	Loss of ambulation	1674	DES	ORPHA:98909
HP:0002505	Loss of ambulation	10133	OPTN	OMIM:613435
HP:0002505	Loss of ambulation	8799	PEX11B	OMIM:614920
HP:0002505	Loss of ambulation	1384	CRAT	OMIM:617917
HP:0002505	Loss of ambulation	5354	PLP1	OMIM:312920
HP:0002505	Loss of ambulation	85021	REPS1	OMIM:617916
HP:0002505	Loss of ambulation	3954	LETM1	OMIM:620089
HP:0002505	Loss of ambulation	5832	ALDH18A1	ORPHA:447757
HP:0002505	Loss of ambulation	79158	GNPTAB	ORPHA:423461
HP:0002505	Loss of ambulation	3098	HK1	ORPHA:99953
HP:0002505	Loss of ambulation	2055	CLN8	OMIM:600143
HP:0002505	Loss of ambulation	10280	SIGMAR1	OMIM:614373
HP:0002505	Loss of ambulation	57716	PRX	OMIM:614895
HP:0002505	Loss of ambulation	6622	SNCA	OMIM:168601
HP:0002505	Loss of ambulation	3156	HMGCR	OMIM:620375
HP:0002505	Loss of ambulation	23516	SLC39A14	ORPHA:521406
HP:0002505	Loss of ambulation	11128	POLR3A	OMIM:607694
HP:0002505	Loss of ambulation	55703	POLR3B	OMIM:607694
HP:0002505	Loss of ambulation	10479	SLC9A6	OMIM:300243
HP:0002505	Loss of ambulation	9499	MYOT	ORPHA:98911
HP:0002505	Loss of ambulation	7084	TK2	OMIM:609560
HP:0002505	Loss of ambulation	51218	GLRX5	ORPHA:401866
HP:0002505	Loss of ambulation	8803	SUCLA2	OMIM:612073
HP:0002506	Diffuse cerebral atrophy	2074	ERCC6	OMIM:214150
HP:0002506	Diffuse cerebral atrophy	5654	HTRA1	ORPHA:199354
HP:0002506	Diffuse cerebral atrophy	6904	TBCD	OMIM:617193
HP:0002506	Diffuse cerebral atrophy	10059	DNM1L	ORPHA:330050
HP:0002506	Diffuse cerebral atrophy	3735	KARS1	ORPHA:3240
HP:0002506	Diffuse cerebral atrophy	27235	COQ2	OMIM:607426
HP:0002506	Diffuse cerebral atrophy	64601	VPS16	OMIM:619291
HP:0002506	Diffuse cerebral atrophy	10466	COG5	ORPHA:263487
HP:0002506	Diffuse cerebral atrophy	7384	UQCRC1	OMIM:619279
HP:0002506	Diffuse cerebral atrophy	22796	COG2	OMIM:617395
HP:0002506	Diffuse cerebral atrophy	22796	COG2	ORPHA:435934
HP:0002506	Diffuse cerebral atrophy	10159	ATP6AP2	ORPHA:363654
HP:0002506	Diffuse cerebral atrophy	10352	WARS2	OMIM:617710
HP:0002506	Diffuse cerebral atrophy	1759	DNM1	OMIM:616346
HP:0002506	Diffuse cerebral atrophy	686	BTD	OMIM:253260
HP:0002506	Diffuse cerebral atrophy	2581	GALC	ORPHA:206436
HP:0002506	Diffuse cerebral atrophy	2581	GALC	OMIM:245200
HP:0002506	Diffuse cerebral atrophy	5660	PSAP	ORPHA:206436
HP:0002506	Diffuse cerebral atrophy	10667	FARS2	OMIM:614946
HP:0002506	Diffuse cerebral atrophy	1717	DHCR7	OMIM:270400
HP:0002506	Diffuse cerebral atrophy	2332	FMR1	OMIM:300623
HP:0002506	Diffuse cerebral atrophy	79587	CARS2	ORPHA:477774
HP:0002506	Diffuse cerebral atrophy	23203	PMPCA	ORPHA:1170
HP:0002506	Diffuse cerebral atrophy	2232	FDXR	ORPHA:543470
HP:0002506	Diffuse cerebral atrophy	8722	CTSF	OMIM:615362
HP:0002506	Diffuse cerebral atrophy	5917	RARS1	ORPHA:438114
HP:0002506	Diffuse cerebral atrophy	2903	GRIN2A	ORPHA:289266
HP:0002506	Diffuse cerebral atrophy	5575	PRKAR1B	ORPHA:412066
HP:0002506	Diffuse cerebral atrophy	2720	GLB1	OMIM:230650
HP:0002506	Diffuse cerebral atrophy	2720	GLB1	ORPHA:79255
HP:0002506	Diffuse cerebral atrophy	57465	TBC1D24	ORPHA:352596
HP:0002506	Diffuse cerebral atrophy	51473	DCDC2	ORPHA:84081
HP:0002506	Diffuse cerebral atrophy	91147	TMEM67	ORPHA:84081
HP:0002506	Diffuse cerebral atrophy	4338	MOCS2	OMIM:252160
HP:0002506	Diffuse cerebral atrophy	9440	MED17	OMIM:613668
HP:0002506	Diffuse cerebral atrophy	6792	CDKL5	ORPHA:1934
HP:0002506	Diffuse cerebral atrophy	3736	KCNA1	ORPHA:1934
HP:0002506	Diffuse cerebral atrophy	9091	PIGQ	ORPHA:1934
HP:0002506	Diffuse cerebral atrophy	140679	SLC32A1	ORPHA:1934
HP:0002506	Diffuse cerebral atrophy	2775	GNAO1	ORPHA:1934
HP:0002506	Diffuse cerebral atrophy	81603	TRIM8	ORPHA:1934
HP:0002506	Diffuse cerebral atrophy	2902	GRIN1	ORPHA:1934
HP:0002506	Diffuse cerebral atrophy	79751	SLC25A22	ORPHA:1934
HP:0002506	Diffuse cerebral atrophy	150094	SIK1	ORPHA:1934
HP:0002506	Diffuse cerebral atrophy	8573	CASK	ORPHA:1934
HP:0002506	Diffuse cerebral atrophy	23312	DMXL2	ORPHA:1934
HP:0002506	Diffuse cerebral atrophy	2917	GRM7	ORPHA:1934
HP:0002506	Diffuse cerebral atrophy	170302	ARX	ORPHA:1934
HP:0002506	Diffuse cerebral atrophy	11284	PNKP	ORPHA:1934
HP:0002506	Diffuse cerebral atrophy	6326	SCN2A	ORPHA:1934
HP:0002506	Diffuse cerebral atrophy	51227	PIGP	ORPHA:1934
HP:0002506	Diffuse cerebral atrophy	6324	SCN1B	ORPHA:1934
HP:0002506	Diffuse cerebral atrophy	4761	NEUROD2	ORPHA:1934
HP:0002506	Diffuse cerebral atrophy	6908	TBP	OMIM:607136
HP:0002506	Diffuse cerebral atrophy	7074	TIAM1	OMIM:619908
HP:0002506	Diffuse cerebral atrophy	23400	ATP13A2	ORPHA:314632
HP:0002506	Diffuse cerebral atrophy	3028	HSD17B10	ORPHA:391428
HP:0002507	Semilobar holoprosencephaly	5727	PTCH1	OMIM:610828
HP:0002507	Semilobar holoprosencephaly	7050	TGIF1	OMIM:142946
HP:0002507	Semilobar holoprosencephaly	7546	ZIC2	OMIM:609637
HP:0002507	Semilobar holoprosencephaly	23019	CNOT1	ORPHA:556955
HP:0002507	Semilobar holoprosencephaly	23019	CNOT1	OMIM:618500
HP:0002507	Semilobar holoprosencephaly	10735	STAG2	OMIM:301043
HP:0002507	Semilobar holoprosencephaly	8243	SMC1A	OMIM:301044
HP:0002507	Semilobar holoprosencephaly	22872	SEC31A	OMIM:618651
HP:0002507	Semilobar holoprosencephaly	2260	FGFR1	OMIM:615465
HP:0002507	Semilobar holoprosencephaly	27145	FILIP1	OMIM:620775
HP:0002507	Semilobar holoprosencephaly	6496	SIX3	OMIM:157170
HP:0002508	Brainstem dysplasia	23322	RPGRIP1L	OMIM:611560
HP:0002508	Brainstem dysplasia	51259	TMEM216	OMIM:608091
HP:0002508	Brainstem dysplasia	56623	INPP5E	OMIM:213300
HP:0002509	Limb hypertonia	10682	EBP	ORPHA:401973
HP:0002509	Limb hypertonia	9997	SCO2	OMIM:604377
HP:0002509	Limb hypertonia	340075	ARSI	ORPHA:401815
HP:0002509	Limb hypertonia	8367	H4C5	OMIM:619950
HP:0002509	Limb hypertonia	57498	KIDINS220	OMIM:617296
HP:0002509	Limb hypertonia	56006	SMG9	OMIM:616920
HP:0002509	Limb hypertonia	26128	KIFBP	OMIM:609460
HP:0002509	Limb hypertonia	1859	DYRK1A	OMIM:614104
HP:0002509	Limb hypertonia	1317	SLC31A1	OMIM:620306
HP:0002509	Limb hypertonia	3098	HK1	OMIM:618547
HP:0002509	Limb hypertonia	2643	GCH1	OMIM:233910
HP:0002509	Limb hypertonia	25977	NECAP1	OMIM:615833
HP:0002509	Limb hypertonia	25977	NECAP1	ORPHA:442835
HP:0002509	Limb hypertonia	55325	UFSP2	OMIM:620028
HP:0002509	Limb hypertonia	9289	ADGRG1	ORPHA:98889
HP:0002509	Limb hypertonia	5297	PI4KA	ORPHA:98889
HP:0002509	Limb hypertonia	27286	SRPX2	ORPHA:98889
HP:0002509	Limb hypertonia	6697	SPR	ORPHA:70594
HP:0002509	Limb hypertonia	80222	TARS2	OMIM:615918
HP:0002509	Limb hypertonia	1161	ERCC8	ORPHA:90322
HP:0002509	Limb hypertonia	2067	ERCC1	ORPHA:90322
HP:0002509	Limb hypertonia	2074	ERCC6	ORPHA:90322
HP:0002509	Limb hypertonia	7343	UBTF	ORPHA:500180
HP:0002509	Limb hypertonia	111	ADCY5	OMIM:606703
HP:0002509	Limb hypertonia	111	ADCY5	ORPHA:324588
HP:0002509	Limb hypertonia	2258	FGF13	OMIM:301058
HP:0002509	Limb hypertonia	51611	DPH5	OMIM:620070
HP:0002509	Limb hypertonia	5631	PRPS1	ORPHA:423479
HP:0002509	Limb hypertonia	2972	BRF1	ORPHA:444072
HP:0002509	Limb hypertonia	6531	SLC6A3	ORPHA:238455
HP:0002509	Limb hypertonia	56521	DNAJC12	OMIM:617384
HP:0002509	Limb hypertonia	64801	ARV1	OMIM:617020
HP:0002509	Limb hypertonia	9578	CDC42BPB	OMIM:619841
HP:0002509	Limb hypertonia	440138	ALG11	ORPHA:280071
HP:0002509	Limb hypertonia	10300	KATNB1	OMIM:616212
HP:0002509	Limb hypertonia	51506	UFC1	OMIM:618076
HP:0002509	Limb hypertonia	1644	DDC	ORPHA:35708
HP:0002509	Limb hypertonia	1644	DDC	OMIM:608643
HP:0002509	Limb hypertonia	2782	GNB1	ORPHA:488613
HP:0002509	Limb hypertonia	2782	GNB1	OMIM:616973
HP:0002509	Limb hypertonia	23310	NCAPD3	OMIM:617984
HP:0002509	Limb hypertonia	9373	PLAA	ORPHA:521426
HP:0002509	Limb hypertonia	64135	IFIH1	OMIM:615846
HP:0002509	Limb hypertonia	157922	CAMSAP1	OMIM:620316
HP:0002509	Limb hypertonia	9562	MINPP1	OMIM:619527
HP:0002509	Limb hypertonia	9829	DNAJC6	OMIM:615528
HP:0002509	Limb hypertonia	10978	CLP1	OMIM:615803
HP:0002509	Limb hypertonia	11128	POLR3A	ORPHA:3455
HP:0002509	Limb hypertonia	23065	EMC1	ORPHA:480898
HP:0002509	Limb hypertonia	23065	EMC1	OMIM:616875
HP:0002509	Limb hypertonia	9179	AP4M1	OMIM:612936
HP:0002509	Limb hypertonia	60386	SLC25A19	OMIM:607196
HP:0002509	Limb hypertonia	60386	SLC25A19	ORPHA:99742
HP:0002509	Limb hypertonia	55691	FRMD4A	ORPHA:466688
HP:0002509	Limb hypertonia	55252	ASXL2	OMIM:617190
HP:0002509	Limb hypertonia	9101	USP8	ORPHA:401795
HP:0002509	Limb hypertonia	1725	DHPS	OMIM:618480
HP:0002509	Limb hypertonia	25839	COG4	ORPHA:263501
HP:0002509	Limb hypertonia	25839	COG4	OMIM:613489
HP:0002509	Limb hypertonia	4718	NDUFC2	OMIM:619170
HP:0002509	Limb hypertonia	5805	PTS	OMIM:261640
HP:0002509	Limb hypertonia	84340	GFM2	ORPHA:565624
HP:0002509	Limb hypertonia	23221	RHOBTB2	OMIM:618004
HP:0002509	Limb hypertonia	4704	NDUFA9	OMIM:618247
HP:0002509	Limb hypertonia	440	ASNS	OMIM:615574
HP:0002509	Limb hypertonia	8913	CACNA1G	OMIM:618087
HP:0002509	Limb hypertonia	10463	SLC30A9	OMIM:617595
HP:0002509	Limb hypertonia	8120	AP3B2	OMIM:617276
HP:0002509	Limb hypertonia	8120	AP3B2	ORPHA:442835
HP:0002509	Limb hypertonia	166378	AFG2A	ORPHA:457351
HP:0002509	Limb hypertonia	10352	WARS2	OMIM:617710
HP:0002509	Limb hypertonia	10352	WARS2	ORPHA:572798
HP:0002509	Limb hypertonia	51227	PIGP	OMIM:617599
HP:0002509	Limb hypertonia	80746	TSEN2	OMIM:612389
HP:0002509	Limb hypertonia	400569	MED11	OMIM:620327
HP:0002509	Limb hypertonia	29920	PYCR2	ORPHA:481152
HP:0002509	Limb hypertonia	2917	GRM7	OMIM:618922
HP:0002509	Limb hypertonia	28962	OSTM1	OMIM:259720
HP:0002509	Limb hypertonia	5095	PCCA	OMIM:606054
HP:0002509	Limb hypertonia	5096	PCCB	OMIM:606054
HP:0002509	Limb hypertonia	2898	GRIK2	OMIM:619580
HP:0002509	Limb hypertonia	6567	SLC16A2	ORPHA:59
HP:0002509	Limb hypertonia	57599	WDR48	ORPHA:401800
HP:0002509	Limb hypertonia	2906	GRIN2D	OMIM:617162
HP:0002509	Limb hypertonia	2906	GRIN2D	ORPHA:442835
HP:0002509	Limb hypertonia	221927	BRAT1	OMIM:618056
HP:0002509	Limb hypertonia	221927	BRAT1	OMIM:614498
HP:0002509	Limb hypertonia	10243	GPHN	OMIM:615501
HP:0002509	Limb hypertonia	6785	ELOVL4	OMIM:614457
HP:0002509	Limb hypertonia	3737	KCNA2	ORPHA:442835
HP:0002509	Limb hypertonia	1759	DNM1	ORPHA:442835
HP:0002509	Limb hypertonia	523	ATP6V1A	ORPHA:442835
HP:0002509	Limb hypertonia	10991	SLC38A3	ORPHA:442835
HP:0002509	Limb hypertonia	51343	FZR1	ORPHA:442835
HP:0002509	Limb hypertonia	3747	KCNC2	ORPHA:442835
HP:0002509	Limb hypertonia	1917	EEF1A2	ORPHA:442835
HP:0002509	Limb hypertonia	23219	FBXO28	ORPHA:442835
HP:0002509	Limb hypertonia	2561	GABRB2	ORPHA:442835
HP:0002509	Limb hypertonia	8831	SYNGAP1	ORPHA:442835
HP:0002509	Limb hypertonia	2558	GABRA5	ORPHA:442835
HP:0002509	Limb hypertonia	116150	NUS1	ORPHA:442835
HP:0002509	Limb hypertonia	1213	CLTC	ORPHA:442835
HP:0002509	Limb hypertonia	51741	WWOX	ORPHA:442835
HP:0002509	Limb hypertonia	23334	SZT2	ORPHA:442835
HP:0002509	Limb hypertonia	348980	HCN1	ORPHA:442835
HP:0002509	Limb hypertonia	23241	PACS2	ORPHA:442835
HP:0002509	Limb hypertonia	16	AARS1	ORPHA:442835
HP:0002509	Limb hypertonia	6334	SCN8A	ORPHA:442835
HP:0002509	Limb hypertonia	9568	GABBR2	ORPHA:442835
HP:0002509	Limb hypertonia	2555	GABRA2	ORPHA:442835
HP:0002509	Limb hypertonia	55152	DALRD3	ORPHA:442835
HP:0002509	Limb hypertonia	26999	CYFIP2	ORPHA:442835
HP:0002509	Limb hypertonia	4915	NTRK2	ORPHA:442835
HP:0002509	Limb hypertonia	25973	PARS2	ORPHA:442835
HP:0002509	Limb hypertonia	23097	CDK19	ORPHA:442835
HP:0002509	Limb hypertonia	2257	FGF12	ORPHA:442835
HP:0002509	Limb hypertonia	5530	PPP3CA	ORPHA:442835
HP:0002509	Limb hypertonia	478	ATP1A3	ORPHA:442835
HP:0002509	Limb hypertonia	22906	TRAK1	ORPHA:442835
HP:0002509	Limb hypertonia	2566	GABRG2	ORPHA:442835
HP:0002509	Limb hypertonia	7532	YWHAG	ORPHA:442835
HP:0002509	Limb hypertonia	79876	UBA5	ORPHA:442835
HP:0002509	Limb hypertonia	6328	SCN3A	ORPHA:442835
HP:0002509	Limb hypertonia	781	CACNA2D1	ORPHA:442835
HP:0002509	Limb hypertonia	10659	CELF2	ORPHA:442835
HP:0002509	Limb hypertonia	774	CACNA1B	ORPHA:442835
HP:0002509	Limb hypertonia	51412	ACTL6B	ORPHA:442835
HP:0002509	Limb hypertonia	2290	FOXG1	ORPHA:442835
HP:0002509	Limb hypertonia	6506	SLC1A2	ORPHA:442835
HP:0002509	Limb hypertonia	8867	SYNJ1	ORPHA:442835
HP:0002509	Limb hypertonia	477	ATP1A2	ORPHA:442835
HP:0002509	Limb hypertonia	3745	KCNB1	ORPHA:442835
HP:0002509	Limb hypertonia	284111	SLC13A5	ORPHA:442835
HP:0002509	Limb hypertonia	284111	SLC13A5	OMIM:615905
HP:0002509	Limb hypertonia	22866	CNKSR2	ORPHA:442835
HP:0002509	Limb hypertonia	773	CACNA1A	ORPHA:442835
HP:0002509	Limb hypertonia	6323	SCN1A	ORPHA:442835
HP:0002509	Limb hypertonia	79947	DHDDS	ORPHA:442835
HP:0002509	Limb hypertonia	55361	PI4K2A	OMIM:620732
HP:0002509	Limb hypertonia	57572	DOCK6	OMIM:614219
HP:0002509	Limb hypertonia	90952	ESAM	OMIM:620371
HP:0002509	Limb hypertonia	59336	PRDM13	OMIM:619909
HP:0002509	Limb hypertonia	87178	PNPT1	ORPHA:319514
HP:0002509	Limb hypertonia	51062	ATL1	ORPHA:100984
HP:0002509	Limb hypertonia	8242	KDM5C	OMIM:300534
HP:0002509	Limb hypertonia	9197	SLC33A1	ORPHA:171863
HP:0002509	Limb hypertonia	23516	SLC39A14	OMIM:617013
HP:0002509	Limb hypertonia	546	ATRX	OMIM:309580
HP:0002509	Limb hypertonia	55149	MTPAP	OMIM:613672
HP:0002509	Limb hypertonia	55149	MTPAP	ORPHA:254343
HP:0002509	Limb hypertonia	6389	SDHA	ORPHA:3208
HP:0002509	Limb hypertonia	6390	SDHB	ORPHA:3208
HP:0002509	Limb hypertonia	6392	SDHD	ORPHA:3208
HP:0002509	Limb hypertonia	644096	SDHAF1	ORPHA:3208
HP:0002509	Limb hypertonia	7994	KAT6A	OMIM:616268
HP:0002509	Limb hypertonia	54834	GDAP2	OMIM:618369
HP:0002509	Limb hypertonia	3930	LBR	OMIM:169400
HP:0002509	Limb hypertonia	10939	AFG3L2	OMIM:610246
HP:0002509	Limb hypertonia	23028	KDM1A	OMIM:616728
HP:0002509	Limb hypertonia	23028	KDM1A	ORPHA:477993
HP:0002509	Limb hypertonia	6709	SPTAN1	OMIM:620540
HP:0002509	Limb hypertonia	5832	ALDH18A1	ORPHA:447753
HP:0002509	Limb hypertonia	6687	SPG7	ORPHA:99013
HP:0002509	Limb hypertonia	6687	SPG7	OMIM:607259
HP:0002509	Limb hypertonia	171023	ASXL1	ORPHA:97297
HP:0002509	Limb hypertonia	100147744	RNU7-1	OMIM:619487
HP:0002509	Limb hypertonia	5917	RARS1	ORPHA:438114
HP:0002509	Limb hypertonia	283989	TSEN54	ORPHA:2524
HP:0002509	Limb hypertonia	116461	TSEN15	ORPHA:2524
HP:0002509	Limb hypertonia	79042	TSEN34	ORPHA:2524
HP:0002509	Limb hypertonia	51091	SEPSECS	ORPHA:2524
HP:0002509	Limb hypertonia	79152	FA2H	ORPHA:171629
HP:0002509	Limb hypertonia	4552	MTRR	ORPHA:2169
HP:0002509	Limb hypertonia	5010	CLDN11	OMIM:619328
HP:0002509	Limb hypertonia	137492	VPS37A	OMIM:614898
HP:0002509	Limb hypertonia	3798	KIF5A	OMIM:604187
HP:0002509	Limb hypertonia	5277	PIGA	OMIM:301072
HP:0002509	Limb hypertonia	55343	SLC35C1	ORPHA:99843
HP:0005758	Basilar impression	22943	DKK1	ORPHA:268882
HP:0005758	Basilar impression	4853	NOTCH2	OMIM:102500
HP:0005758	Basilar impression	26137	ZBTB20	OMIM:259050
HP:0005758	Basilar impression	1277	COL1A1	OMIM:259420
HP:0005758	Basilar impression	1278	COL1A2	OMIM:259420
HP:0002694	Sclerosis of skull base	139285	AMER1	OMIM:300373
HP:0002694	Sclerosis of skull base	3930	LBR	OMIM:215140
HP:0002694	Sclerosis of skull base	23387	SIK3	OMIM:618162
HP:0002694	Sclerosis of skull base	54	ACP5	OMIM:607944
HP:0002694	Sclerosis of skull base	4854	NOTCH3	OMIM:130720
HP:0002694	Sclerosis of skull base	7040	TGFB1	OMIM:131300
HP:0002694	Sclerosis of skull base	79639	TMEM53	OMIM:619727
HP:0002694	Sclerosis of skull base	56172	ANKH	OMIM:123000
HP:0002694	Sclerosis of skull base	8792	TNFRSF11A	OMIM:602080
HP:0002694	Sclerosis of skull base	2316	FLNA	ORPHA:1826
HP:0002694	Sclerosis of skull base	2316	FLNA	OMIM:304120
HP:0002694	Sclerosis of skull base	6885	MAP3K7	ORPHA:1826
HP:0002694	Sclerosis of skull base	26040	SETBP1	OMIM:269150
HP:0002694	Sclerosis of skull base	26040	SETBP1	ORPHA:798
HP:0002694	Sclerosis of skull base	388015	RTL1	ORPHA:96334
HP:0002694	Sclerosis of skull base	8788	DLK1	ORPHA:96334
HP:0002694	Sclerosis of skull base	55384	MEG3	ORPHA:96334
HP:0002694	Sclerosis of skull base	9791	PTDSS1	OMIM:151050
HP:0005756	Neonatal epiphyseal stippling	10682	EBP	ORPHA:35173
HP:0005756	Neonatal epiphyseal stippling	5573	PRKAR1A	OMIM:101800
HP:0031890	Increased urine urobilinogen	3145	HMBS	OMIM:620704
HP:0031891	Decreased eosinophil count	84196	USP48	ORPHA:96253
HP:0031891	Decreased eosinophil count	7157	TP53	ORPHA:96253
HP:0031891	Decreased eosinophil count	9101	USP8	ORPHA:96253
HP:0031891	Decreased eosinophil count	64072	CDH23	ORPHA:96253
HP:0031891	Decreased eosinophil count	2908	NR3C1	ORPHA:96253
HP:0031891	Decreased eosinophil count	673	BRAF	ORPHA:96253
HP:0031891	Decreased eosinophil count	546	ATRX	ORPHA:96253
HP:0031891	Decreased eosinophil count	29775	CARD10	OMIM:619632
HP:0031891	Decreased eosinophil count	1991	ELANE	ORPHA:2686
HP:0009576	Absent middle phalanx of 2nd finger	9896	FIG4	OMIM:216340
HP:0009576	Absent middle phalanx of 2nd finger	50814	NSDHL	OMIM:308050
HP:0009576	Absent middle phalanx of 2nd finger	9742	IFT140	OMIM:266920
HP:0005855	Multiple prenatal fractures	3930	LBR	OMIM:215140
HP:0005855	Multiple prenatal fractures	51360	MBTPS2	OMIM:301014
HP:0005855	Multiple prenatal fractures	79879	CCDC134	OMIM:619795
HP:0005855	Multiple prenatal fractures	58	ACTA1	ORPHA:171433
HP:0005855	Multiple prenatal fractures	58	ACTA1	ORPHA:171430
HP:0005855	Multiple prenatal fractures	4703	NEB	ORPHA:171433
HP:0005855	Multiple prenatal fractures	4703	NEB	ORPHA:171430
HP:0005855	Multiple prenatal fractures	10324	KLHL41	ORPHA:171433
HP:0005855	Multiple prenatal fractures	10324	KLHL41	ORPHA:171430
HP:0005855	Multiple prenatal fractures	7170	TPM3	ORPHA:171433
HP:0005855	Multiple prenatal fractures	131377	KLHL40	ORPHA:171430
HP:0005855	Multiple prenatal fractures	56203	LMOD3	ORPHA:171430
HP:0005855	Multiple prenatal fractures	202018	TAPT1	OMIM:616897
HP:0005855	Multiple prenatal fractures	10491	CRTAP	OMIM:610682
HP:0005855	Multiple prenatal fractures	23184	MESD	OMIM:618644
HP:0005855	Multiple prenatal fractures	51008	ASCC1	OMIM:616867
HP:0005855	Multiple prenatal fractures	1277	COL1A1	OMIM:166210
HP:0005855	Multiple prenatal fractures	1277	COL1A1	OMIM:259420
HP:0005855	Multiple prenatal fractures	1278	COL1A2	OMIM:166210
HP:0005855	Multiple prenatal fractures	1278	COL1A2	OMIM:259420
HP:0005855	Multiple prenatal fractures	9325	TRIP4	OMIM:616866
HP:0005855	Multiple prenatal fractures	5479	PPIB	OMIM:259440
HP:0005855	Multiple prenatal fractures	64175	P3H1	OMIM:610915
HP:0002758	Osteoarthritis	1311	COMP	ORPHA:750
HP:0002758	Osteoarthritis	1311	COMP	OMIM:177170
HP:0002758	Osteoarthritis	1311	COMP	ORPHA:93308
HP:0002758	Osteoarthritis	4088	SMAD3	ORPHA:284984
HP:0002758	Osteoarthritis	4088	SMAD3	OMIM:613795
HP:0002758	Osteoarthritis	4322	MMP13	OMIM:602111
HP:0002758	Osteoarthritis	176	ACAN	ORPHA:93283
HP:0002758	Osteoarthritis	176	ACAN	ORPHA:435804
HP:0002758	Osteoarthritis	8838	CCN6	OMIM:208230
HP:0002758	Osteoarthritis	652	BMP4	ORPHA:828
HP:0002758	Osteoarthritis	3703	STT3A	OMIM:619714
HP:0002758	Osteoarthritis	4803	NGF	OMIM:608654
HP:0002758	Osteoarthritis	2261	FGFR3	ORPHA:429
HP:0002758	Osteoarthritis	1280	COL2A1	OMIM:108300
HP:0002758	Osteoarthritis	1280	COL2A1	ORPHA:90653
HP:0002758	Osteoarthritis	1280	COL2A1	ORPHA:85198
HP:0002758	Osteoarthritis	1280	COL2A1	ORPHA:166100
HP:0002758	Osteoarthritis	3248	HPGD	ORPHA:1525
HP:0002758	Osteoarthritis	4210	MEFV	ORPHA:342
HP:0002758	Osteoarthritis	2158	F9	OMIM:306900
HP:0002758	Osteoarthritis	4000	LMNA	ORPHA:740
HP:0002758	Osteoarthritis	10269	ZMPSTE24	ORPHA:740
HP:0002758	Osteoarthritis	2157	F8	OMIM:306700
HP:0002758	Osteoarthritis	1289	COL5A1	OMIM:130000
HP:0002758	Osteoarthritis	1289	COL5A1	ORPHA:287
HP:0002758	Osteoarthritis	1299	COL9A3	OMIM:600969
HP:0002758	Osteoarthritis	1299	COL9A3	ORPHA:166002
HP:0002758	Osteoarthritis	540	ATP7B	OMIM:277900
HP:0002758	Osteoarthritis	30061	SLC40A1	OMIM:606069
HP:0002758	Osteoarthritis	2778	GNAS	ORPHA:2762
HP:0002758	Osteoarthritis	124583	CANT1	OMIM:251450
HP:0002758	Osteoarthritis	1297	COL9A1	ORPHA:166002
HP:0002758	Osteoarthritis	1297	COL9A1	OMIM:614135
HP:0002758	Osteoarthritis	1298	COL9A2	ORPHA:166002
HP:0002758	Osteoarthritis	5251	PHEX	OMIM:307800
HP:0002758	Osteoarthritis	11117	EMILIN1	OMIM:620080
HP:0002758	Osteoarthritis	56172	ANKH	OMIM:118600
HP:0002758	Osteoarthritis	56172	ANKH	ORPHA:1416
HP:0002758	Osteoarthritis	165	AEBP1	OMIM:618000
HP:0002758	Osteoarthritis	55325	UFSP2	ORPHA:2114
HP:0002758	Osteoarthritis	55325	UFSP2	OMIM:142669
HP:0002758	Osteoarthritis	4087	SMAD2	OMIM:619656
HP:0002758	Osteoarthritis	1302	COL11A2	ORPHA:1427
HP:0002758	Osteoarthritis	1302	COL11A2	ORPHA:166100
HP:0002758	Osteoarthritis	83550	GPR101	ORPHA:963
HP:0002758	Osteoarthritis	9049	AIP	ORPHA:963
HP:0002758	Osteoarthritis	3081	HGD	ORPHA:56
HP:0002758	Osteoarthritis	1277	COL1A1	ORPHA:287
HP:0002758	Osteoarthritis	1290	COL5A2	ORPHA:287
HP:0002758	Osteoarthritis	4148	MATN3	OMIM:140600
HP:0002758	Osteoarthritis	1186	CLCN7	ORPHA:53
HP:0002758	Osteoarthritis	1281	COL3A1	ORPHA:286
HP:0002758	Osteoarthritis	1301	COL11A1	ORPHA:560
HP:0002758	Osteoarthritis	7043	TGFB3	OMIM:615582
HP:0002758	Osteoarthritis	7227	TRPS1	OMIM:190350
HP:0002758	Osteoarthritis	57592	ZNF687	OMIM:616833
HP:0002758	Osteoarthritis	54829	ASPN	OMIM:607850
HP:0002758	Osteoarthritis	4982	TNFRSF11B	ORPHA:1416
HP:0002758	Osteoarthritis	2690	GHR	ORPHA:633
HP:0002758	Osteoarthritis	2629	GBA1	ORPHA:77259
HP:0002758	Osteoarthritis	950	SCARB2	ORPHA:77259
HP:0002758	Osteoarthritis	3835	KIF22	ORPHA:93360
HP:0002758	Osteoarthritis	6399	TRAPPC2	ORPHA:93284
HP:0002758	Osteoarthritis	2200	FBN1	OMIM:154700
HP:0002758	Osteoarthritis	1836	SLC26A2	ORPHA:93307
HP:0002758	Osteoarthritis	65992	DDRGK1	ORPHA:93352
HP:0002758	Osteoarthritis	59341	TRPV4	ORPHA:93314
HP:0002758	Osteoarthritis	10216	PRG4	ORPHA:2848
HP:0002758	Osteoarthritis	6775	STAT4	ORPHA:85408
HP:0002758	Osteoarthritis	6775	STAT4	ORPHA:85410
HP:0002758	Osteoarthritis	3560	IL2RB	ORPHA:85408
HP:0002758	Osteoarthritis	3560	IL2RB	ORPHA:85410
HP:0002758	Osteoarthritis	79722	ANKRD55	ORPHA:85408
HP:0002758	Osteoarthritis	79722	ANKRD55	ORPHA:85410
HP:0002758	Osteoarthritis	26191	PTPN22	ORPHA:85408
HP:0002758	Osteoarthritis	26191	PTPN22	ORPHA:85410
HP:0002758	Osteoarthritis	919	CD247	ORPHA:85408
HP:0002758	Osteoarthritis	919	CD247	ORPHA:85410
HP:0002758	Osteoarthritis	3559	IL2RA	ORPHA:85408
HP:0002758	Osteoarthritis	3559	IL2RA	ORPHA:85410
HP:0002758	Osteoarthritis	5771	PTPN2	ORPHA:85408
HP:0002758	Osteoarthritis	5771	PTPN2	ORPHA:85410
HP:0002758	Osteoarthritis	8200	GDF5	ORPHA:63442
HP:0002758	Osteoarthritis	2487	FRZB	OMIM:165720
HP:0002758	Osteoarthritis	3106	HLA-B	OMIM:106300
HP:0001162	Postaxial hand polydactyly	2737	GLI3	ORPHA:672
HP:0001162	Postaxial hand polydactyly	2737	GLI3	ORPHA:36
HP:0001162	Postaxial hand polydactyly	2737	GLI3	ORPHA:380
HP:0001162	Postaxial hand polydactyly	2737	GLI3	OMIM:146510
HP:0001162	Postaxial hand polydactyly	2737	GLI3	OMIM:175700
HP:0001162	Postaxial hand polydactyly	2737	GLI3	OMIM:174200
HP:0001162	Postaxial hand polydactyly	6309	SC5D	ORPHA:46059
HP:0001162	Postaxial hand polydactyly	6309	SC5D	OMIM:607330
HP:0001162	Postaxial hand polydactyly	894	CCND2	ORPHA:83473
HP:0001162	Postaxial hand polydactyly	894	CCND2	OMIM:615938
HP:0001162	Postaxial hand polydactyly	5296	PIK3R2	ORPHA:83473
HP:0001162	Postaxial hand polydactyly	10000	AKT3	ORPHA:83473
HP:0001162	Postaxial hand polydactyly	10000	AKT3	OMIM:615937
HP:0001162	Postaxial hand polydactyly	4750	NEK1	OMIM:263520
HP:0001162	Postaxial hand polydactyly	4750	NEK1	OMIM:252100
HP:0001162	Postaxial hand polydactyly	4750	NEK1	ORPHA:2751
HP:0001162	Postaxial hand polydactyly	26160	IFT172	OMIM:615630
HP:0001162	Postaxial hand polydactyly	26160	IFT172	ORPHA:474
HP:0001162	Postaxial hand polydactyly	26160	IFT172	OMIM:619471
HP:0001162	Postaxial hand polydactyly	54585	LZTFL1	OMIM:615994
HP:0001162	Postaxial hand polydactyly	57539	WDR35	OMIM:613610
HP:0001162	Postaxial hand polydactyly	57539	WDR35	ORPHA:93271
HP:0001162	Postaxial hand polydactyly	8195	MKKS	OMIM:236700
HP:0001162	Postaxial hand polydactyly	8195	MKKS	ORPHA:2473
HP:0001162	Postaxial hand polydactyly	51259	TMEM216	OMIM:608091
HP:0001162	Postaxial hand polydactyly	51259	TMEM216	OMIM:603194
HP:0001162	Postaxial hand polydactyly	51259	TMEM216	ORPHA:564
HP:0001162	Postaxial hand polydactyly	56623	INPP5E	OMIM:213300
HP:0001162	Postaxial hand polydactyly	56623	INPP5E	ORPHA:1454
HP:0001162	Postaxial hand polydactyly	55593	OTUD5	OMIM:301056
HP:0001162	Postaxial hand polydactyly	374654	KIF7	ORPHA:36
HP:0001162	Postaxial hand polydactyly	374654	KIF7	OMIM:200990
HP:0001162	Postaxial hand polydactyly	374654	KIF7	OMIM:614120
HP:0001162	Postaxial hand polydactyly	374654	KIF7	ORPHA:2189
HP:0001162	Postaxial hand polydactyly	91147	TMEM67	OMIM:216360
HP:0001162	Postaxial hand polydactyly	91147	TMEM67	ORPHA:564
HP:0001162	Postaxial hand polydactyly	91147	TMEM67	ORPHA:1454
HP:0001162	Postaxial hand polydactyly	91147	TMEM67	OMIM:607361
HP:0001162	Postaxial hand polydactyly	64327	LMBR1	OMIM:190605
HP:0001162	Postaxial hand polydactyly	55112	DYNC2I1	ORPHA:93271
HP:0001162	Postaxial hand polydactyly	55112	DYNC2I1	ORPHA:474
HP:0001162	Postaxial hand polydactyly	57560	IFT80	ORPHA:93271
HP:0001162	Postaxial hand polydactyly	57560	IFT80	ORPHA:474
HP:0001162	Postaxial hand polydactyly	57560	IFT80	OMIM:611263
HP:0001162	Postaxial hand polydactyly	79659	DYNC2H1	ORPHA:93271
HP:0001162	Postaxial hand polydactyly	79659	DYNC2H1	ORPHA:474
HP:0001162	Postaxial hand polydactyly	89891	DYNC2I2	ORPHA:93271
HP:0001162	Postaxial hand polydactyly	89891	DYNC2I2	ORPHA:474
HP:0001162	Postaxial hand polydactyly	23322	RPGRIP1L	OMIM:611561
HP:0001162	Postaxial hand polydactyly	23322	RPGRIP1L	OMIM:611560
HP:0001162	Postaxial hand polydactyly	23322	RPGRIP1L	ORPHA:564
HP:0001162	Postaxial hand polydactyly	23322	RPGRIP1L	ORPHA:1454
HP:0001162	Postaxial hand polydactyly	83479	DDX59	OMIM:174300
HP:0001162	Postaxial hand polydactyly	83479	DDX59	ORPHA:2919
HP:0001162	Postaxial hand polydactyly	4149	MAX	OMIM:620712
HP:0001162	Postaxial hand polydactyly	1717	DHCR7	ORPHA:818
HP:0001162	Postaxial hand polydactyly	1717	DHCR7	OMIM:270400
HP:0001162	Postaxial hand polydactyly	10225	CD96	OMIM:211750
HP:0001162	Postaxial hand polydactyly	6926	TBX3	ORPHA:3138
HP:0001162	Postaxial hand polydactyly	6926	TBX3	OMIM:181450
HP:0001162	Postaxial hand polydactyly	7476	WNT7A	OMIM:228930
HP:0001162	Postaxial hand polydactyly	83871	RAB34	OMIM:620718
HP:0001162	Postaxial hand polydactyly	84100	ARL6	OMIM:209900
HP:0001162	Postaxial hand polydactyly	79140	CCDC28B	OMIM:209900
HP:0001162	Postaxial hand polydactyly	582	BBS1	OMIM:209900
HP:0001162	Postaxial hand polydactyly	51057	WDPCP	OMIM:217085
HP:0001162	Postaxial hand polydactyly	3209	HOXA13	ORPHA:2438
HP:0001162	Postaxial hand polydactyly	3209	HOXA13	OMIM:176305
HP:0001162	Postaxial hand polydactyly	64093	SMOC1	ORPHA:1106
HP:0001162	Postaxial hand polydactyly	64093	SMOC1	OMIM:206920
HP:0001162	Postaxial hand polydactyly	84314	TMEM107	ORPHA:564
HP:0001162	Postaxial hand polydactyly	84314	TMEM107	OMIM:617563
HP:0001162	Postaxial hand polydactyly	26123	TCTN3	ORPHA:564
HP:0001162	Postaxial hand polydactyly	26123	TCTN3	ORPHA:2753
HP:0001162	Postaxial hand polydactyly	79867	TCTN2	ORPHA:564
HP:0001162	Postaxial hand polydactyly	79867	TCTN2	OMIM:616654
HP:0001162	Postaxial hand polydactyly	80776	B9D2	ORPHA:564
HP:0001162	Postaxial hand polydactyly	80776	B9D2	OMIM:614175
HP:0001162	Postaxial hand polydactyly	79600	TCTN1	ORPHA:564
HP:0001162	Postaxial hand polydactyly	57096	RPGRIP1	ORPHA:564
HP:0001162	Postaxial hand polydactyly	79848	CSPP1	ORPHA:564
HP:0001162	Postaxial hand polydactyly	80184	CEP290	ORPHA:564
HP:0001162	Postaxial hand polydactyly	80184	CEP290	OMIM:611134
HP:0001162	Postaxial hand polydactyly	57545	CC2D2A	ORPHA:564
HP:0001162	Postaxial hand polydactyly	57545	CC2D2A	ORPHA:1454
HP:0001162	Postaxial hand polydactyly	57545	CC2D2A	OMIM:612284
HP:0001162	Postaxial hand polydactyly	79583	TMEM231	ORPHA:564
HP:0001162	Postaxial hand polydactyly	79770	TXNDC15	ORPHA:564
HP:0001162	Postaxial hand polydactyly	79770	TXNDC15	OMIM:619879
HP:0001162	Postaxial hand polydactyly	27077	B9D1	ORPHA:564
HP:0001162	Postaxial hand polydactyly	54903	MKS1	ORPHA:564
HP:0001162	Postaxial hand polydactyly	54903	MKS1	OMIM:249000
HP:0001162	Postaxial hand polydactyly	65062	TMEM237	ORPHA:564
HP:0001162	Postaxial hand polydactyly	285600	KIAA0825	OMIM:618498
HP:0001162	Postaxial hand polydactyly	8200	GDF5	OMIM:113100
HP:0001162	Postaxial hand polydactyly	8200	GDF5	OMIM:200700
HP:0001162	Postaxial hand polydactyly	8200	GDF5	ORPHA:2098
HP:0001162	Postaxial hand polydactyly	5147	PDE6D	OMIM:615665
HP:0001162	Postaxial hand polydactyly	51715	RAB23	ORPHA:65759
HP:0001162	Postaxial hand polydactyly	51715	RAB23	OMIM:201000
HP:0001162	Postaxial hand polydactyly	1954	MEGF8	ORPHA:65759
HP:0001162	Postaxial hand polydactyly	26005	C2CD3	OMIM:615948
HP:0001162	Postaxial hand polydactyly	26005	C2CD3	ORPHA:434179
HP:0001162	Postaxial hand polydactyly	26040	SETBP1	OMIM:269150
HP:0001162	Postaxial hand polydactyly	2121	EVC	ORPHA:952
HP:0001162	Postaxial hand polydactyly	2121	EVC	OMIM:193530
HP:0001162	Postaxial hand polydactyly	2121	EVC	OMIM:225500
HP:0001162	Postaxial hand polydactyly	132884	EVC2	ORPHA:952
HP:0001162	Postaxial hand polydactyly	132884	EVC2	OMIM:193530
HP:0001162	Postaxial hand polydactyly	132884	EVC2	OMIM:225500
HP:0001162	Postaxial hand polydactyly	9851	KIAA0753	ORPHA:474
HP:0001162	Postaxial hand polydactyly	9851	KIAA0753	OMIM:617127
HP:0001162	Postaxial hand polydactyly	153241	CEP120	ORPHA:474
HP:0001162	Postaxial hand polydactyly	51626	DYNC2LI1	ORPHA:474
HP:0001162	Postaxial hand polydactyly	51626	DYNC2LI1	OMIM:617088
HP:0001162	Postaxial hand polydactyly	9742	IFT140	ORPHA:474
HP:0001162	Postaxial hand polydactyly	9742	IFT140	OMIM:266920
HP:0001162	Postaxial hand polydactyly	57728	WDR19	ORPHA:474
HP:0001162	Postaxial hand polydactyly	79809	TTC21B	ORPHA:474
HP:0001162	Postaxial hand polydactyly	64840	PORCN	OMIM:305600
HP:0001162	Postaxial hand polydactyly	65250	CPLANE1	OMIM:277170
HP:0001162	Postaxial hand polydactyly	79005	SCNM1	OMIM:620107
HP:0001162	Postaxial hand polydactyly	6608	SMO	OMIM:241800
HP:0001162	Postaxial hand polydactyly	658	BMPR1B	ORPHA:2098
HP:0001162	Postaxial hand polydactyly	54499	TMCO1	OMIM:213980
HP:0001162	Postaxial hand polydactyly	2736	GLI2	OMIM:610829
HP:0001162	Postaxial hand polydactyly	51360	MBTPS2	OMIM:308205
HP:0001162	Postaxial hand polydactyly	51360	MBTPS2	ORPHA:85284
HP:0001162	Postaxial hand polydactyly	8481	OFD1	OMIM:300209
HP:0001162	Postaxial hand polydactyly	8481	OFD1	OMIM:300804
HP:0001162	Postaxial hand polydactyly	8481	OFD1	ORPHA:2750
HP:0001162	Postaxial hand polydactyly	80210	ARMC9	OMIM:617622
HP:0001162	Postaxial hand polydactyly	9373	PLAA	ORPHA:521426
HP:0001162	Postaxial hand polydactyly	2316	FLNA	OMIM:304120
HP:0001162	Postaxial hand polydactyly	3930	LBR	OMIM:215140
HP:0001162	Postaxial hand polydactyly	2239	GPC4	ORPHA:373
HP:0001162	Postaxial hand polydactyly	2239	GPC4	OMIM:312870
HP:0001162	Postaxial hand polydactyly	2719	GPC3	ORPHA:373
HP:0001162	Postaxial hand polydactyly	2719	GPC3	OMIM:312870
HP:0001162	Postaxial hand polydactyly	727857	BHLHA9	ORPHA:3329
HP:0001162	Postaxial hand polydactyly	51684	SUFU	OMIM:617757
HP:0001162	Postaxial hand polydactyly	219844	HYLS1	OMIM:236680
HP:0001162	Postaxial hand polydactyly	219844	HYLS1	ORPHA:2189
HP:0001162	Postaxial hand polydactyly	6910	TBX5	OMIM:142900
HP:0001162	Postaxial hand polydactyly	257	ALX3	OMIM:136760
HP:0001162	Postaxial hand polydactyly	23288	IQCE	OMIM:617642
HP:0001162	Postaxial hand polydactyly	583	BBS2	OMIM:615981
HP:0001162	Postaxial hand polydactyly	5567	PRKACB	OMIM:619143
HP:0001162	Postaxial hand polydactyly	137392	CIBAR1	OMIM:618219
HP:0001162	Postaxial hand polydactyly	7700	ZNF141	OMIM:615226
HP:0001162	Postaxial hand polydactyly	7046	TGFBR1	OMIM:609192
HP:0001162	Postaxial hand polydactyly	166379	BBS12	OMIM:615989
HP:0001162	Postaxial hand polydactyly	27241	BBS9	OMIM:615986
HP:0001162	Postaxial hand polydactyly	157657	CFAP418	OMIM:617406
HP:0001162	Postaxial hand polydactyly	255758	DYNLT2B	OMIM:617405
HP:0001162	Postaxial hand polydactyly	2263	FGFR2	OMIM:101200
HP:0005764	Polyarticular arthritis	5293	PIK3CD	OMIM:619281
HP:0005764	Polyarticular arthritis	26191	PTPN22	ORPHA:397
HP:0005764	Polyarticular arthritis	26191	PTPN22	ORPHA:900
HP:0005764	Polyarticular arthritis	26191	PTPN22	OMIM:180300
HP:0005764	Polyarticular arthritis	26191	PTPN22	ORPHA:536
HP:0005764	Polyarticular arthritis	3106	HLA-B	ORPHA:397
HP:0005764	Polyarticular arthritis	3123	HLA-DRB1	ORPHA:397
HP:0005764	Polyarticular arthritis	3123	HLA-DRB1	ORPHA:536
HP:0005764	Polyarticular arthritis	8974	P4HA2	ORPHA:397
HP:0005764	Polyarticular arthritis	4210	MEFV	ORPHA:342
HP:0005764	Polyarticular arthritis	4210	MEFV	OMIM:134610
HP:0005764	Polyarticular arthritis	139818	DOCK11	OMIM:301109
HP:0005764	Polyarticular arthritis	1758	DMP1	ORPHA:289176
HP:0005764	Polyarticular arthritis	5167	ENPP1	ORPHA:289176
HP:0005764	Polyarticular arthritis	22861	NLRP1	OMIM:617388
HP:0005764	Polyarticular arthritis	114548	NLRP3	OMIM:191900
HP:0005764	Polyarticular arthritis	7128	TNFAIP3	OMIM:616744
HP:0005764	Polyarticular arthritis	7128	TNFAIP3	ORPHA:536
HP:0005764	Polyarticular arthritis	6774	STAT3	OMIM:615952
HP:0005764	Polyarticular arthritis	7132	TNFRSF1A	OMIM:142680
HP:0005764	Polyarticular arthritis	26525	IL36RN	OMIM:614204
HP:0005764	Polyarticular arthritis	1493	CTLA4	ORPHA:900
HP:0005764	Polyarticular arthritis	1493	CTLA4	ORPHA:536
HP:0005764	Polyarticular arthritis	3115	HLA-DPB1	ORPHA:900
HP:0005764	Polyarticular arthritis	5657	PRTN3	ORPHA:900
HP:0005764	Polyarticular arthritis	3113	HLA-DPA1	ORPHA:900
HP:0005764	Polyarticular arthritis	3586	IL10	OMIM:180300
HP:0005764	Polyarticular arthritis	3586	IL10	ORPHA:536
HP:0005764	Polyarticular arthritis	6583	SLC22A4	OMIM:180300
HP:0005764	Polyarticular arthritis	4261	CIITA	OMIM:180300
HP:0005764	Polyarticular arthritis	51744	CD244	OMIM:180300
HP:0005764	Polyarticular arthritis	4795	NFKBIL1	OMIM:180300
HP:0005764	Polyarticular arthritis	64127	NOD2	ORPHA:90340
HP:0005764	Polyarticular arthritis	2215	FCGR3B	ORPHA:536
HP:0005764	Polyarticular arthritis	6775	STAT4	ORPHA:536
HP:0005764	Polyarticular arthritis	3684	ITGAM	ORPHA:536
HP:0005764	Polyarticular arthritis	221895	JAZF1	ORPHA:536
HP:0005764	Polyarticular arthritis	11277	TREX1	ORPHA:536
HP:0005764	Polyarticular arthritis	7292	TNFSF4	ORPHA:536
HP:0005764	Polyarticular arthritis	640	BLK	ORPHA:536
HP:0005764	Polyarticular arthritis	720	C4A	ORPHA:536
HP:0005764	Polyarticular arthritis	55024	BANK1	ORPHA:536
HP:0005764	Polyarticular arthritis	3500	IGHG1	ORPHA:536
HP:0005764	Polyarticular arthritis	3654	IRAK1	ORPHA:536
HP:0005764	Polyarticular arthritis	1380	CR2	ORPHA:536
HP:0005764	Polyarticular arthritis	5133	PDCD1	ORPHA:536
HP:0005764	Polyarticular arthritis	2113	ETS1	ORPHA:536
HP:0005764	Polyarticular arthritis	2213	FCGR2B	ORPHA:536
HP:0005764	Polyarticular arthritis	10318	TNIP1	ORPHA:536
HP:0005764	Polyarticular arthritis	7332	UBE2L3	ORPHA:536
HP:0005764	Polyarticular arthritis	79932	KIAA0319L	ORPHA:536
HP:0005764	Polyarticular arthritis	4204	MECP2	ORPHA:536
HP:0005764	Polyarticular arthritis	3663	IRF5	ORPHA:536
HP:0005764	Polyarticular arthritis	721	C4B	ORPHA:536
HP:0005764	Polyarticular arthritis	1773	DNASE1	ORPHA:536
HP:0005764	Polyarticular arthritis	51284	TLR7	ORPHA:536
HP:0005764	Polyarticular arthritis	6696	SPP1	ORPHA:536
HP:0005764	Polyarticular arthritis	54899	PXK	ORPHA:536
HP:0031899	Abnormal coagulation factor V activity	2542	SLC37A4	OMIM:619525
HP:0031899	Abnormal coagulation factor V activity	90411	MCFD2	OMIM:613625
HP:0031899	Abnormal coagulation factor V activity	90411	MCFD2	ORPHA:35909
HP:0031899	Abnormal coagulation factor V activity	2153	F5	OMIM:227400
HP:0031899	Abnormal coagulation factor V activity	3998	LMAN1	OMIM:227300
HP:0031899	Abnormal coagulation factor V activity	3998	LMAN1	ORPHA:35909
HP:0031899	Abnormal coagulation factor V activity	191	AHCY	ORPHA:88618
HP:0005767	1-2 toe complete cutaneous syndactyly	51776	MAP3K20	ORPHA:488232
HP:0005768	2-4 toe cutaneous syndactyly	23261	CAMTA1	OMIM:614756
HP:0005768	2-4 toe cutaneous syndactyly	374969	SVBP	OMIM:618569
HP:0005768	2-4 toe cutaneous syndactyly	1859	DYRK1A	ORPHA:268261
HP:0005768	2-4 toe cutaneous syndactyly	2697	GJA1	OMIM:257850
HP:0005768	2-4 toe cutaneous syndactyly	6309	SC5D	OMIM:607330
HP:0005769	Fifth finger distal phalanx clinodactyly	4882	NPR2	OMIM:615923
HP:0005769	Fifth finger distal phalanx clinodactyly	92482	BBIP1	ORPHA:110
HP:0005769	Fifth finger distal phalanx clinodactyly	80184	CEP290	ORPHA:110
HP:0005769	Fifth finger distal phalanx clinodactyly	11020	IFT27	ORPHA:110
HP:0005769	Fifth finger distal phalanx clinodactyly	582	BBS1	ORPHA:110
HP:0005769	Fifth finger distal phalanx clinodactyly	49855	SCAPER	ORPHA:110
HP:0005769	Fifth finger distal phalanx clinodactyly	4867	NPHP1	ORPHA:110
HP:0005769	Fifth finger distal phalanx clinodactyly	51057	WDPCP	ORPHA:110
HP:0005769	Fifth finger distal phalanx clinodactyly	132320	SCLT1	ORPHA:110
HP:0005769	Fifth finger distal phalanx clinodactyly	27241	BBS9	ORPHA:110
HP:0005769	Fifth finger distal phalanx clinodactyly	84984	CEP19	ORPHA:110
HP:0005769	Fifth finger distal phalanx clinodactyly	22954	TRIM32	ORPHA:110
HP:0005769	Fifth finger distal phalanx clinodactyly	54903	MKS1	ORPHA:110
HP:0005769	Fifth finger distal phalanx clinodactyly	79738	BBS10	ORPHA:110
HP:0005769	Fifth finger distal phalanx clinodactyly	123016	TTC8	ORPHA:110
HP:0005769	Fifth finger distal phalanx clinodactyly	26160	IFT172	ORPHA:110
HP:0005769	Fifth finger distal phalanx clinodactyly	583	BBS2	ORPHA:110
HP:0005769	Fifth finger distal phalanx clinodactyly	585	BBS4	ORPHA:110
HP:0005769	Fifth finger distal phalanx clinodactyly	8195	MKKS	ORPHA:110
HP:0005769	Fifth finger distal phalanx clinodactyly	54585	LZTFL1	ORPHA:110
HP:0005769	Fifth finger distal phalanx clinodactyly	55212	BBS7	ORPHA:110
HP:0005769	Fifth finger distal phalanx clinodactyly	166379	BBS12	ORPHA:110
HP:0005769	Fifth finger distal phalanx clinodactyly	10806	SDCCAG8	ORPHA:110
HP:0005769	Fifth finger distal phalanx clinodactyly	157657	CFAP418	ORPHA:110
HP:0005769	Fifth finger distal phalanx clinodactyly	84100	ARL6	ORPHA:110
HP:0005769	Fifth finger distal phalanx clinodactyly	129880	BBS5	ORPHA:110
HP:0005769	Fifth finger distal phalanx clinodactyly	80173	IFT74	ORPHA:110
HP:0005769	Fifth finger distal phalanx clinodactyly	2697	GJA1	OMIM:257850
HP:0005766	Disproportionate shortening of the tibia	4750	NEK1	OMIM:263520
HP:0005765	Sacral meningocele	81839	VANGL1	OMIM:600145
HP:0005765	Sacral meningocele	3110	MNX1	ORPHA:1552
HP:0005765	Sacral meningocele	3110	MNX1	OMIM:176450
HP:0002510	Spastic tetraplegia	23141	ANKLE2	OMIM:616681
HP:0002510	Spastic tetraplegia	8367	H4C5	OMIM:619950
HP:0002510	Spastic tetraplegia	776	CACNA1D	OMIM:615474
HP:0002510	Spastic tetraplegia	27247	NFU1	OMIM:620938
HP:0002510	Spastic tetraplegia	2720	GLB1	OMIM:230600
HP:0002510	Spastic tetraplegia	84942	WDR73	OMIM:251300
HP:0002510	Spastic tetraplegia	6328	SCN3A	OMIM:617938
HP:0002510	Spastic tetraplegia	8496	PPFIBP1	OMIM:620024
HP:0002510	Spastic tetraplegia	56945	MRPS22	OMIM:611719
HP:0002510	Spastic tetraplegia	6567	SLC16A2	OMIM:300523
HP:0002510	Spastic tetraplegia	6567	SLC16A2	ORPHA:59
HP:0002510	Spastic tetraplegia	1436	CSF1R	OMIM:618476
HP:0002510	Spastic tetraplegia	170302	ARX	OMIM:300004
HP:0002510	Spastic tetraplegia	8867	SYNJ1	OMIM:617389
HP:0002510	Spastic tetraplegia	644096	SDHAF1	OMIM:619166
HP:0002510	Spastic tetraplegia	80347	COASY	OMIM:615643
HP:0002510	Spastic tetraplegia	1841	DTYMK	OMIM:619847
HP:0002510	Spastic tetraplegia	29078	NDUFAF4	OMIM:618237
HP:0002510	Spastic tetraplegia	79133	NDUFAF5	OMIM:618238
HP:0002510	Spastic tetraplegia	23431	AP4E1	OMIM:613744
HP:0002510	Spastic tetraplegia	54820	NDE1	OMIM:605013
HP:0002510	Spastic tetraplegia	7846	TUBA1A	OMIM:611603
HP:0002510	Spastic tetraplegia	9179	AP4M1	OMIM:612936
HP:0002510	Spastic tetraplegia	79709	COLGALT1	OMIM:618360
HP:0002510	Spastic tetraplegia	3735	KARS1	ORPHA:3240
HP:0002510	Spastic tetraplegia	3735	KARS1	OMIM:619147
HP:0002510	Spastic tetraplegia	4204	MECP2	OMIM:300055
HP:0002510	Spastic tetraplegia	535	ATP6V0A1	OMIM:619971
HP:0002510	Spastic tetraplegia	22796	COG2	OMIM:617395
HP:0002510	Spastic tetraplegia	22796	COG2	ORPHA:435934
HP:0002510	Spastic tetraplegia	100131801	PET100	OMIM:619055
HP:0002510	Spastic tetraplegia	7283	TUBG1	OMIM:615412
HP:0002510	Spastic tetraplegia	79029	AFG2B	OMIM:619616
HP:0002510	Spastic tetraplegia	10352	WARS2	OMIM:617710
HP:0002510	Spastic tetraplegia	10352	WARS2	ORPHA:572798
HP:0002510	Spastic tetraplegia	6709	SPTAN1	OMIM:613477
HP:0002510	Spastic tetraplegia	1778	DYNC1H1	OMIM:614563
HP:0002510	Spastic tetraplegia	10381	TUBB3	ORPHA:300570
HP:0002510	Spastic tetraplegia	3796	KIF2A	OMIM:615411
HP:0002510	Spastic tetraplegia	123263	MTFMT	OMIM:618248
HP:0002510	Spastic tetraplegia	170825	GSX2	OMIM:618646
HP:0002510	Spastic tetraplegia	8560	DEGS1	OMIM:618404
HP:0002510	Spastic tetraplegia	259232	NALCN	OMIM:615419
HP:0002510	Spastic tetraplegia	259232	NALCN	ORPHA:371364
HP:0002510	Spastic tetraplegia	549	AUH	OMIM:250950
HP:0002510	Spastic tetraplegia	23258	DENND5A	OMIM:617281
HP:0002510	Spastic tetraplegia	5903	RANBP2	ORPHA:88619
HP:0002510	Spastic tetraplegia	5903	RANBP2	OMIM:608033
HP:0002510	Spastic tetraplegia	22872	SEC31A	OMIM:618651
HP:0002510	Spastic tetraplegia	1193	CLIC2	ORPHA:324410
HP:0002510	Spastic tetraplegia	5277	PIGA	OMIM:300868
HP:0002510	Spastic tetraplegia	132158	GLYCTK	OMIM:220120
HP:0002510	Spastic tetraplegia	128637	TBC1D20	OMIM:615663
HP:0002510	Spastic tetraplegia	4338	MOCS2	OMIM:252160
HP:0002510	Spastic tetraplegia	128989	TANGO2	OMIM:616878
HP:0002510	Spastic tetraplegia	6785	ELOVL4	OMIM:614457
HP:0002510	Spastic tetraplegia	6905	TBCE	OMIM:617207
HP:0002510	Spastic tetraplegia	26227	PHGDH	ORPHA:79351
HP:0002510	Spastic tetraplegia	26227	PHGDH	OMIM:601815
HP:0002510	Spastic tetraplegia	4990	SIX6	OMIM:206900
HP:0002510	Spastic tetraplegia	6657	SOX2	OMIM:206900
HP:0002510	Spastic tetraplegia	59336	PRDM13	OMIM:619909
HP:0002510	Spastic tetraplegia	1267	CNP	OMIM:619071
HP:0002510	Spastic tetraplegia	11019	LIAS	OMIM:614462
HP:0002510	Spastic tetraplegia	56978	PRDM8	OMIM:616640
HP:0002510	Spastic tetraplegia	6812	STXBP1	OMIM:612164
HP:0002510	Spastic tetraplegia	6812	STXBP1	ORPHA:599373
HP:0002510	Spastic tetraplegia	3028	HSD17B10	OMIM:300438
HP:0002510	Spastic tetraplegia	6711	SPTBN1	OMIM:619475
HP:0002510	Spastic tetraplegia	51633	OTUD6B	OMIM:617452
HP:0002510	Spastic tetraplegia	51633	OTUD6B	ORPHA:505237
HP:0002510	Spastic tetraplegia	3747	KCNC2	OMIM:619913
HP:0002510	Spastic tetraplegia	2517	FUCA1	OMIM:230000
HP:0002510	Spastic tetraplegia	2517	FUCA1	ORPHA:349
HP:0002510	Spastic tetraplegia	22931	RAB18	OMIM:614222
HP:0002510	Spastic tetraplegia	4337	MOCS1	OMIM:252150
HP:0002510	Spastic tetraplegia	51091	SEPSECS	OMIM:613811
HP:0002510	Spastic tetraplegia	56270	WDR45B	OMIM:617977
HP:0002510	Spastic tetraplegia	285175	UNC80	ORPHA:371364
HP:0002510	Spastic tetraplegia	9289	ADGRG1	ORPHA:98889
HP:0002510	Spastic tetraplegia	5297	PI4KA	ORPHA:98889
HP:0002510	Spastic tetraplegia	27286	SRPX2	ORPHA:98889
HP:0002510	Spastic tetraplegia	1528	CYB5A	ORPHA:621
HP:0002510	Spastic tetraplegia	1727	CYB5R3	ORPHA:621
HP:0002510	Spastic tetraplegia	51611	DPH5	OMIM:620070
HP:0002510	Spastic tetraplegia	5700	PSMC1	OMIM:620071
HP:0002510	Spastic tetraplegia	8050	PDHX	OMIM:245349
HP:0002510	Spastic tetraplegia	100147744	RNU7-1	OMIM:619487
HP:0002510	Spastic tetraplegia	100147744	RNU7-1	ORPHA:51
HP:0002510	Spastic tetraplegia	90522	YIF1B	OMIM:619125
HP:0002510	Spastic tetraplegia	3800	KIF5C	OMIM:615282
HP:0002510	Spastic tetraplegia	6472	SHMT2	OMIM:619121
HP:0002510	Spastic tetraplegia	2893	GRIA4	OMIM:617864
HP:0002510	Spastic tetraplegia	23400	ATP13A2	OMIM:617225
HP:0002510	Spastic tetraplegia	10297	APC2	OMIM:618677
HP:0002510	Spastic tetraplegia	55164	SHQ1	OMIM:619922
HP:0002510	Spastic tetraplegia	6509	SLC1A4	OMIM:616657
HP:0002510	Spastic tetraplegia	9562	MINPP1	OMIM:619527
HP:0002510	Spastic tetraplegia	6663	SOX10	OMIM:609136
HP:0002510	Spastic tetraplegia	55739	NAXD	OMIM:618321
HP:0002510	Spastic tetraplegia	440	ASNS	OMIM:615574
HP:0002510	Spastic tetraplegia	777	CACNA1E	OMIM:618285
HP:0002510	Spastic tetraplegia	200205	IBA57	OMIM:615330
HP:0002510	Spastic tetraplegia	1284	COL4A2	OMIM:614483
HP:0002510	Spastic tetraplegia	64919	BCL11B	OMIM:617237
HP:0002510	Spastic tetraplegia	55275	VPS53	OMIM:615851
HP:0002510	Spastic tetraplegia	57679	ALS2	ORPHA:293168
HP:0002510	Spastic tetraplegia	57679	ALS2	OMIM:607225
HP:0002510	Spastic tetraplegia	2806	GOT2	OMIM:618721
HP:0002510	Spastic tetraplegia	51294	PCDH12	OMIM:251280
HP:0002510	Spastic tetraplegia	23189	KANK1	OMIM:612900
HP:0002510	Spastic tetraplegia	2055	CLN8	ORPHA:1947
HP:0002510	Spastic tetraplegia	57192	MCOLN1	OMIM:252650
HP:0002510	Spastic tetraplegia	28962	OSTM1	OMIM:259720
HP:0002510	Spastic tetraplegia	80704	SLC19A3	ORPHA:263410
HP:0002510	Spastic tetraplegia	51645	PPIL1	OMIM:619301
HP:0002510	Spastic tetraplegia	51362	CDC40	OMIM:619302
HP:0002510	Spastic tetraplegia	51075	TMX2	OMIM:618730
HP:0002510	Spastic tetraplegia	1496	CTNNA2	OMIM:618174
HP:0002510	Spastic tetraplegia	120	ADD3	OMIM:617008
HP:0002510	Spastic tetraplegia	8398	PLA2G6	OMIM:256600
HP:0002510	Spastic tetraplegia	6326	SCN2A	OMIM:613721
HP:0002510	Spastic tetraplegia	55770	EXOC2	OMIM:619306
HP:0002510	Spastic tetraplegia	10695	CNPY3	OMIM:617929
HP:0002510	Spastic tetraplegia	10535	RNASEH2A	ORPHA:51
HP:0002510	Spastic tetraplegia	84153	RNASEH2C	ORPHA:51
HP:0002510	Spastic tetraplegia	25939	SAMHD1	ORPHA:51
HP:0002510	Spastic tetraplegia	79621	RNASEH2B	ORPHA:51
HP:0002510	Spastic tetraplegia	103	ADAR	ORPHA:51
HP:0002510	Spastic tetraplegia	11277	TREX1	ORPHA:51
HP:0002510	Spastic tetraplegia	134353	LSM11	ORPHA:51
HP:0002510	Spastic tetraplegia	64135	IFIH1	ORPHA:51
HP:0002510	Spastic tetraplegia	2902	GRIN1	ORPHA:208447
HP:0002510	Spastic tetraplegia	410	ARSA	OMIM:250100
HP:0002511	Alzheimer disease	5664	PSEN2	OMIM:606889
HP:0002511	Alzheimer disease	348	APOE	OMIM:606889
HP:0002511	Alzheimer disease	348	APOE	OMIM:607822
HP:0002511	Alzheimer disease	348	APOE	OMIM:104310
HP:0002511	Alzheimer disease	5663	PSEN1	OMIM:607822
HP:0002511	Alzheimer disease	4353	MPO	OMIM:104300
HP:0002511	Alzheimer disease	4846	NOS3	OMIM:104300
HP:0002511	Alzheimer disease	5328	PLAU	OMIM:104300
HP:0002511	Alzheimer disease	351	APP	OMIM:104300
HP:0002511	Alzheimer disease	8913	CACNA1G	ORPHA:458803
HP:0002511	Alzheimer disease	10347	ABCA7	OMIM:608907
HP:0002512	Brain stem compression	22943	DKK1	ORPHA:268882
HP:0002512	Brain stem compression	2261	FGFR3	OMIM:100800
HP:0002512	Brain stem compression	8792	TNFRSF11A	OMIM:602080
HP:0002512	Brain stem compression	8314	BAP1	ORPHA:2495
HP:0002512	Brain stem compression	4771	NF2	ORPHA:2495
HP:0002512	Brain stem compression	4771	NF2	ORPHA:637
HP:0002512	Brain stem compression	6598	SMARCB1	ORPHA:2495
HP:0002512	Brain stem compression	5155	PDGFB	ORPHA:2495
HP:0002512	Brain stem compression	84231	TRAF7	ORPHA:2495
HP:0002512	Brain stem compression	6608	SMO	ORPHA:2495
HP:0002512	Brain stem compression	207	AKT1	ORPHA:2495
HP:0002512	Brain stem compression	5290	PIK3CA	ORPHA:2495
HP:0002512	Brain stem compression	7015	TERT	ORPHA:2495
HP:0002512	Brain stem compression	51684	SUFU	ORPHA:2495
HP:0002512	Brain stem compression	6605	SMARCE1	ORPHA:2495
HP:0001251	Ataxia	26191	PTPN22	ORPHA:397
HP:0001251	Ataxia	3106	HLA-B	ORPHA:397
HP:0001251	Ataxia	3106	HLA-B	ORPHA:117
HP:0001251	Ataxia	3123	HLA-DRB1	ORPHA:397
HP:0001251	Ataxia	8974	P4HA2	ORPHA:397
HP:0001251	Ataxia	4524	MTHFR	ORPHA:395
HP:0001251	Ataxia	55703	POLR3B	OMIM:614381
HP:0001251	Ataxia	55703	POLR3B	OMIM:607694
HP:0001251	Ataxia	55703	POLR3B	OMIM:619742
HP:0001251	Ataxia	55703	POLR3B	ORPHA:88637
HP:0001251	Ataxia	26235	FBXL4	OMIM:615471
HP:0001251	Ataxia	340533	NEXMIF	OMIM:300912
HP:0001251	Ataxia	340533	NEXMIF	ORPHA:1942
HP:0001251	Ataxia	5994	RFXAP	OMIM:620817
HP:0001251	Ataxia	54101	RIPK4	ORPHA:1401
HP:0001251	Ataxia	5238	PGM3	ORPHA:443811
HP:0001251	Ataxia	5238	PGM3	OMIM:615816
HP:0001251	Ataxia	9254	CACNA2D2	OMIM:618501
HP:0001251	Ataxia	4897	NRCAM	OMIM:619833
HP:0001251	Ataxia	84334	COA8	ORPHA:436271
HP:0001251	Ataxia	84334	COA8	OMIM:619061
HP:0001251	Ataxia	5927	KDM5A	OMIM:620820
HP:0001251	Ataxia	1786	DNMT1	ORPHA:314404
HP:0001251	Ataxia	1786	DNMT1	OMIM:614116
HP:0001251	Ataxia	1786	DNMT1	OMIM:604121
HP:0001251	Ataxia	5457	POU4F1	ORPHA:314647
HP:0001251	Ataxia	5457	POU4F1	OMIM:619352
HP:0001251	Ataxia	23261	CAMTA1	ORPHA:314647
HP:0001251	Ataxia	23261	CAMTA1	OMIM:614756
HP:0001251	Ataxia	51099	ABHD5	OMIM:275630
HP:0001251	Ataxia	51099	ABHD5	ORPHA:98907
HP:0001251	Ataxia	5604	MAP2K1	ORPHA:389
HP:0001251	Ataxia	4893	NRAS	ORPHA:389
HP:0001251	Ataxia	673	BRAF	ORPHA:389
HP:0001251	Ataxia	5631	PRPS1	ORPHA:99014
HP:0001251	Ataxia	5631	PRPS1	OMIM:301835
HP:0001251	Ataxia	5631	PRPS1	ORPHA:411543
HP:0001251	Ataxia	5631	PRPS1	ORPHA:1187
HP:0001251	Ataxia	5631	PRPS1	OMIM:300661
HP:0001251	Ataxia	4125	MAN2B1	ORPHA:309282
HP:0001251	Ataxia	4125	MAN2B1	ORPHA:309288
HP:0001251	Ataxia	5354	PLP1	ORPHA:99015
HP:0001251	Ataxia	5354	PLP1	OMIM:312080
HP:0001251	Ataxia	5354	PLP1	ORPHA:280210
HP:0001251	Ataxia	5354	PLP1	ORPHA:280219
HP:0001251	Ataxia	5354	PLP1	ORPHA:280234
HP:0001251	Ataxia	2593	GAMT	ORPHA:382
HP:0001251	Ataxia	2593	GAMT	OMIM:612736
HP:0001251	Ataxia	6616	SNAP25	OMIM:616330
HP:0001251	Ataxia	6616	SNAP25	ORPHA:98914
HP:0001251	Ataxia	10528	NOP56	OMIM:614153
HP:0001251	Ataxia	10528	NOP56	ORPHA:276198
HP:0001251	Ataxia	23322	RPGRIP1L	ORPHA:220497
HP:0001251	Ataxia	23322	RPGRIP1L	ORPHA:1454
HP:0001251	Ataxia	23322	RPGRIP1L	OMIM:619113
HP:0001251	Ataxia	23322	RPGRIP1L	OMIM:611560
HP:0001251	Ataxia	4867	NPHP1	ORPHA:220497
HP:0001251	Ataxia	4867	NPHP1	ORPHA:110
HP:0001251	Ataxia	4867	NPHP1	ORPHA:3156
HP:0001251	Ataxia	4867	NPHP1	OMIM:609583
HP:0001251	Ataxia	65062	TMEM237	ORPHA:220497
HP:0001251	Ataxia	65062	TMEM237	ORPHA:2318
HP:0001251	Ataxia	65062	TMEM237	ORPHA:475
HP:0001251	Ataxia	65062	TMEM237	OMIM:614424
HP:0001251	Ataxia	27245	AHDC1	ORPHA:412069
HP:0001251	Ataxia	7532	YWHAG	OMIM:617665
HP:0001251	Ataxia	7532	YWHAG	ORPHA:442835
HP:0001251	Ataxia	54806	AHI1	ORPHA:220493
HP:0001251	Ataxia	54806	AHI1	ORPHA:475
HP:0001251	Ataxia	54806	AHI1	OMIM:608629
HP:0001251	Ataxia	56623	INPP5E	ORPHA:220493
HP:0001251	Ataxia	56623	INPP5E	OMIM:213300
HP:0001251	Ataxia	56623	INPP5E	ORPHA:1454
HP:0001251	Ataxia	56623	INPP5E	ORPHA:475
HP:0001251	Ataxia	153241	CEP120	ORPHA:220493
HP:0001251	Ataxia	153241	CEP120	ORPHA:475
HP:0001251	Ataxia	54903	MKS1	ORPHA:220493
HP:0001251	Ataxia	54903	MKS1	ORPHA:110
HP:0001251	Ataxia	54903	MKS1	ORPHA:475
HP:0001251	Ataxia	54903	MKS1	OMIM:617121
HP:0001251	Ataxia	95681	CEP41	ORPHA:220493
HP:0001251	Ataxia	95681	CEP41	ORPHA:475
HP:0001251	Ataxia	95681	CEP41	OMIM:614464
HP:0001251	Ataxia	10908	PNPLA6	OMIM:275400
HP:0001251	Ataxia	10908	PNPLA6	ORPHA:2377
HP:0001251	Ataxia	10908	PNPLA6	OMIM:215470
HP:0001251	Ataxia	10908	PNPLA6	ORPHA:1180
HP:0001251	Ataxia	10908	PNPLA6	ORPHA:3363
HP:0001251	Ataxia	10908	PNPLA6	ORPHA:1173
HP:0001251	Ataxia	10908	PNPLA6	OMIM:612020
HP:0001251	Ataxia	10908	PNPLA6	OMIM:245800
HP:0001251	Ataxia	1161	ERCC8	OMIM:216400
HP:0001251	Ataxia	1161	ERCC8	ORPHA:90321
HP:0001251	Ataxia	1161	ERCC8	ORPHA:90322
HP:0001251	Ataxia	100996717	NOTCH2NLC	OMIM:603472
HP:0001251	Ataxia	100996717	NOTCH2NLC	OMIM:619473
HP:0001251	Ataxia	100996717	NOTCH2NLC	ORPHA:2289
HP:0001251	Ataxia	219285	SAMD9L	OMIM:159550
HP:0001251	Ataxia	219285	SAMD9L	ORPHA:2585
HP:0001251	Ataxia	219285	SAMD9L	OMIM:619806
HP:0001251	Ataxia	7345	UCHL1	OMIM:615491
HP:0001251	Ataxia	55154	MSTO1	OMIM:617675
HP:0001251	Ataxia	50484	RRM2B	OMIM:613077
HP:0001251	Ataxia	50484	RRM2B	ORPHA:254892
HP:0001251	Ataxia	50484	RRM2B	ORPHA:480
HP:0001251	Ataxia	7343	UBTF	OMIM:617672
HP:0001251	Ataxia	64834	ELOVL1	OMIM:618527
HP:0001251	Ataxia	10111	RAD50	OMIM:613078
HP:0001251	Ataxia	84100	ARL6	OMIM:209900
HP:0001251	Ataxia	84100	ARL6	ORPHA:110
HP:0001251	Ataxia	79140	CCDC28B	OMIM:209900
HP:0001251	Ataxia	582	BBS1	OMIM:209900
HP:0001251	Ataxia	582	BBS1	ORPHA:110
HP:0001251	Ataxia	10939	AFG3L2	ORPHA:313772
HP:0001251	Ataxia	10939	AFG3L2	OMIM:614487
HP:0001251	Ataxia	2697	GJA1	ORPHA:2710
HP:0001251	Ataxia	2697	GJA1	OMIM:164200
HP:0001251	Ataxia	4508	MT-ATP6	OMIM:551500
HP:0001251	Ataxia	4508	MT-ATP6	ORPHA:104
HP:0001251	Ataxia	4508	MT-ATP6	OMIM:535000
HP:0001251	Ataxia	4508	MT-ATP6	ORPHA:255210
HP:0001251	Ataxia	4508	MT-ATP6	ORPHA:225154
HP:0001251	Ataxia	4508	MT-ATP6	ORPHA:644
HP:0001251	Ataxia	4508	MT-ATP6	ORPHA:254913
HP:0001251	Ataxia	1130	LYST	ORPHA:167
HP:0001251	Ataxia	1130	LYST	OMIM:214500
HP:0001251	Ataxia	4566	MT-TK	OMIM:545000
HP:0001251	Ataxia	4566	MT-TK	ORPHA:551
HP:0001251	Ataxia	4566	MT-TK	ORPHA:255210
HP:0001251	Ataxia	4566	MT-TK	ORPHA:1349
HP:0001251	Ataxia	4565	MT-TI	OMIM:545000
HP:0001251	Ataxia	4567	MT-TL1	OMIM:545000
HP:0001251	Ataxia	4567	MT-TL1	ORPHA:551
HP:0001251	Ataxia	4567	MT-TL1	ORPHA:550
HP:0001251	Ataxia	4567	MT-TL1	ORPHA:255210
HP:0001251	Ataxia	4567	MT-TL1	ORPHA:480
HP:0001251	Ataxia	4571	MT-TP	OMIM:545000
HP:0001251	Ataxia	4571	MT-TP	ORPHA:551
HP:0001251	Ataxia	4558	MT-TF	OMIM:545000
HP:0001251	Ataxia	4558	MT-TF	ORPHA:551
HP:0001251	Ataxia	4558	MT-TF	ORPHA:550
HP:0001251	Ataxia	9997	SCO2	OMIM:608908
HP:0001251	Ataxia	9997	SCO2	OMIM:604377
HP:0001251	Ataxia	23312	DMXL2	OMIM:616113
HP:0001251	Ataxia	23312	DMXL2	ORPHA:453533
HP:0001251	Ataxia	57231	SNX14	OMIM:616354
HP:0001251	Ataxia	57231	SNX14	ORPHA:397709
HP:0001251	Ataxia	23327	NEDD4L	OMIM:617201
HP:0001251	Ataxia	5073	PARN	OMIM:616353
HP:0001251	Ataxia	5073	PARN	ORPHA:3322
HP:0001251	Ataxia	5813	PURA	ORPHA:438216
HP:0001251	Ataxia	3340	NDST1	OMIM:616116
HP:0001251	Ataxia	6905	TBCE	OMIM:617207
HP:0001251	Ataxia	26834	RNU4-2	OMIM:620851
HP:0001251	Ataxia	5373	PMM2	OMIM:212065
HP:0001251	Ataxia	5373	PMM2	ORPHA:79318
HP:0001251	Ataxia	92482	BBIP1	ORPHA:110
HP:0001251	Ataxia	80184	CEP290	ORPHA:110
HP:0001251	Ataxia	80184	CEP290	ORPHA:3156
HP:0001251	Ataxia	80184	CEP290	OMIM:610188
HP:0001251	Ataxia	80184	CEP290	ORPHA:2318
HP:0001251	Ataxia	11020	IFT27	ORPHA:110
HP:0001251	Ataxia	49855	SCAPER	ORPHA:110
HP:0001251	Ataxia	51057	WDPCP	ORPHA:110
HP:0001251	Ataxia	132320	SCLT1	ORPHA:110
HP:0001251	Ataxia	27241	BBS9	ORPHA:110
HP:0001251	Ataxia	84984	CEP19	ORPHA:110
HP:0001251	Ataxia	22954	TRIM32	ORPHA:110
HP:0001251	Ataxia	79738	BBS10	ORPHA:110
HP:0001251	Ataxia	123016	TTC8	ORPHA:110
HP:0001251	Ataxia	26160	IFT172	ORPHA:110
HP:0001251	Ataxia	583	BBS2	ORPHA:110
HP:0001251	Ataxia	585	BBS4	ORPHA:110
HP:0001251	Ataxia	8195	MKKS	ORPHA:110
HP:0001251	Ataxia	54585	LZTFL1	ORPHA:110
HP:0001251	Ataxia	55212	BBS7	ORPHA:110
HP:0001251	Ataxia	166379	BBS12	ORPHA:110
HP:0001251	Ataxia	10806	SDCCAG8	ORPHA:110
HP:0001251	Ataxia	10806	SDCCAG8	ORPHA:3156
HP:0001251	Ataxia	157657	CFAP418	ORPHA:110
HP:0001251	Ataxia	129880	BBS5	ORPHA:110
HP:0001251	Ataxia	80173	IFT74	ORPHA:110
HP:0001251	Ataxia	80173	IFT74	ORPHA:475
HP:0001251	Ataxia	9131	AIFM1	ORPHA:101078
HP:0001251	Ataxia	9131	AIFM1	OMIM:300232
HP:0001251	Ataxia	2911	GRM1	OMIM:617691
HP:0001251	Ataxia	2911	GRM1	OMIM:614831
HP:0001251	Ataxia	3737	KCNA2	OMIM:616366
HP:0001251	Ataxia	3737	KCNA2	ORPHA:442835
HP:0001251	Ataxia	55773	TBC1D23	OMIM:617695
HP:0001251	Ataxia	55280	CWF19L1	OMIM:616127
HP:0001251	Ataxia	3098	HK1	OMIM:618547
HP:0001251	Ataxia	2705	GJB1	ORPHA:101075
HP:0001251	Ataxia	84277	DNAJC30	ORPHA:104
HP:0001251	Ataxia	84277	DNAJC30	ORPHA:904
HP:0001251	Ataxia	4535	MT-ND1	ORPHA:104
HP:0001251	Ataxia	4535	MT-ND1	OMIM:535000
HP:0001251	Ataxia	4535	MT-ND1	ORPHA:550
HP:0001251	Ataxia	4535	MT-ND1	ORPHA:2609
HP:0001251	Ataxia	4535	MT-ND1	ORPHA:255210
HP:0001251	Ataxia	4536	MT-ND2	ORPHA:104
HP:0001251	Ataxia	4536	MT-ND2	OMIM:535000
HP:0001251	Ataxia	4536	MT-ND2	ORPHA:2609
HP:0001251	Ataxia	4536	MT-ND2	ORPHA:255210
HP:0001251	Ataxia	4538	MT-ND4	ORPHA:104
HP:0001251	Ataxia	4538	MT-ND4	OMIM:535000
HP:0001251	Ataxia	4538	MT-ND4	ORPHA:550
HP:0001251	Ataxia	4538	MT-ND4	ORPHA:255210
HP:0001251	Ataxia	4720	NDUFS2	ORPHA:104
HP:0001251	Ataxia	4720	NDUFS2	ORPHA:2609
HP:0001251	Ataxia	4720	NDUFS2	OMIM:618228
HP:0001251	Ataxia	4512	MT-CO1	ORPHA:104
HP:0001251	Ataxia	4512	MT-CO1	ORPHA:550
HP:0001251	Ataxia	4514	MT-CO3	ORPHA:104
HP:0001251	Ataxia	4514	MT-CO3	OMIM:535000
HP:0001251	Ataxia	4514	MT-CO3	ORPHA:550
HP:0001251	Ataxia	4519	MT-CYB	ORPHA:104
HP:0001251	Ataxia	4519	MT-CYB	OMIM:535000
HP:0001251	Ataxia	4540	MT-ND5	ORPHA:104
HP:0001251	Ataxia	4540	MT-ND5	OMIM:535000
HP:0001251	Ataxia	4540	MT-ND5	ORPHA:551
HP:0001251	Ataxia	4540	MT-ND5	ORPHA:550
HP:0001251	Ataxia	4540	MT-ND5	ORPHA:255210
HP:0001251	Ataxia	4541	MT-ND6	ORPHA:104
HP:0001251	Ataxia	4541	MT-ND6	OMIM:535000
HP:0001251	Ataxia	4541	MT-ND6	ORPHA:550
HP:0001251	Ataxia	4541	MT-ND6	ORPHA:255210
HP:0001251	Ataxia	4539	MT-ND4L	ORPHA:104
HP:0001251	Ataxia	4539	MT-ND4L	OMIM:535000
HP:0001251	Ataxia	4598	MVK	ORPHA:343
HP:0001251	Ataxia	4598	MVK	ORPHA:29
HP:0001251	Ataxia	4598	MVK	OMIM:610377
HP:0001251	Ataxia	1822	ATN1	ORPHA:101
HP:0001251	Ataxia	1822	ATN1	OMIM:125370
HP:0001251	Ataxia	472	ATM	ORPHA:100
HP:0001251	Ataxia	472	ATM	OMIM:208900
HP:0001251	Ataxia	3766	KCNJ10	ORPHA:199343
HP:0001251	Ataxia	3766	KCNJ10	OMIM:612780
HP:0001251	Ataxia	3766	KCNJ10	ORPHA:705
HP:0001251	Ataxia	4644	MYO5A	ORPHA:33445
HP:0001251	Ataxia	4644	MYO5A	ORPHA:79476
HP:0001251	Ataxia	1615	DARS1	OMIM:615281
HP:0001251	Ataxia	2232	FDXR	ORPHA:543470
HP:0001251	Ataxia	56652	TWNK	OMIM:616138
HP:0001251	Ataxia	56652	TWNK	OMIM:271245
HP:0001251	Ataxia	56652	TWNK	ORPHA:254892
HP:0001251	Ataxia	56652	TWNK	OMIM:607459
HP:0001251	Ataxia	56652	TWNK	ORPHA:1186
HP:0001251	Ataxia	4076	CAPRIN1	OMIM:620636
HP:0001251	Ataxia	23400	ATP13A2	OMIM:617225
HP:0001251	Ataxia	23400	ATP13A2	OMIM:606693
HP:0001251	Ataxia	10531	PITRM1	OMIM:619405
HP:0001251	Ataxia	57462	MYORG	OMIM:618317
HP:0001251	Ataxia	3773	KCNJ16	OMIM:619406
HP:0001251	Ataxia	79633	FAT4	ORPHA:314679
HP:0001251	Ataxia	8642	DCHS1	ORPHA:314679
HP:0001251	Ataxia	57192	MCOLN1	ORPHA:578
HP:0001251	Ataxia	51567	TDP2	ORPHA:404493
HP:0001251	Ataxia	51567	TDP2	OMIM:616949
HP:0001251	Ataxia	38	ACAT1	ORPHA:134
HP:0001251	Ataxia	55739	NAXD	OMIM:618321
HP:0001251	Ataxia	5917	RARS1	OMIM:616140
HP:0001251	Ataxia	5917	RARS1	ORPHA:438114
HP:0001251	Ataxia	2395	FXN	OMIM:229300
HP:0001251	Ataxia	57679	ALS2	OMIM:205100
HP:0001251	Ataxia	57679	ALS2	ORPHA:300605
HP:0001251	Ataxia	5654	HTRA1	OMIM:600142
HP:0001251	Ataxia	2055	CLN8	OMIM:600143
HP:0001251	Ataxia	2055	CLN8	ORPHA:1947
HP:0001251	Ataxia	4615	MYD88	ORPHA:33226
HP:0001251	Ataxia	85300	ATCAY	OMIM:601238
HP:0001251	Ataxia	2629	GBA1	ORPHA:77261
HP:0001251	Ataxia	2629	GBA1	OMIM:231000
HP:0001251	Ataxia	10533	ATG7	OMIM:619422
HP:0001251	Ataxia	1917	EEF1A2	OMIM:616393
HP:0001251	Ataxia	1917	EEF1A2	ORPHA:442835
HP:0001251	Ataxia	9742	IFT140	OMIM:266920
HP:0001251	Ataxia	5728	PTEN	ORPHA:65285
HP:0001251	Ataxia	5728	PTEN	ORPHA:201
HP:0001251	Ataxia	2583	B4GALNT1	OMIM:609195
HP:0001251	Ataxia	11232	POLG2	OMIM:619425
HP:0001251	Ataxia	11232	POLG2	ORPHA:254892
HP:0001251	Ataxia	81603	TRIM8	OMIM:619428
HP:0001251	Ataxia	165918	RNF168	OMIM:611943
HP:0001251	Ataxia	165918	RNF168	ORPHA:420741
HP:0001251	Ataxia	4001	LMNB1	ORPHA:99027
HP:0001251	Ataxia	4001	LMNB1	OMIM:169500
HP:0001251	Ataxia	410	ARSA	OMIM:250100
HP:0001251	Ataxia	149233	IL23R	ORPHA:117
HP:0001251	Ataxia	6775	STAT4	ORPHA:117
HP:0001251	Ataxia	3586	IL10	ORPHA:117
HP:0001251	Ataxia	4210	MEFV	ORPHA:117
HP:0001251	Ataxia	1230	CCR1	ORPHA:117
HP:0001251	Ataxia	355	FAS	ORPHA:117
HP:0001251	Ataxia	3592	IL12A	ORPHA:117
HP:0001251	Ataxia	101928376	IL12A-AS1	ORPHA:117
HP:0001251	Ataxia	7099	TLR4	ORPHA:117
HP:0001251	Ataxia	3459	IFNGR1	ORPHA:117
HP:0001251	Ataxia	720	C4A	ORPHA:117
HP:0001251	Ataxia	337867	UBAC2	ORPHA:117
HP:0001251	Ataxia	51752	ERAP1	ORPHA:117
HP:0001251	Ataxia	8302	KLRC4	ORPHA:117
HP:0001251	Ataxia	435	ASL	ORPHA:23
HP:0001251	Ataxia	435	ASL	OMIM:207900
HP:0001251	Ataxia	4549	MT-RNR1	ORPHA:551
HP:0001251	Ataxia	4574	MT-TS1	ORPHA:551
HP:0001251	Ataxia	4574	MT-TS1	ORPHA:550
HP:0001251	Ataxia	4574	MT-TS1	OMIM:220110
HP:0001251	Ataxia	4575	MT-TS2	ORPHA:551
HP:0001251	Ataxia	4575	MT-TS2	ORPHA:550
HP:0001251	Ataxia	4575	MT-TS2	ORPHA:231183
HP:0001251	Ataxia	4572	MT-TQ	ORPHA:551
HP:0001251	Ataxia	4572	MT-TQ	ORPHA:550
HP:0001251	Ataxia	4564	MT-TH	ORPHA:551
HP:0001251	Ataxia	4564	MT-TH	ORPHA:550
HP:0001251	Ataxia	2639	GCDH	ORPHA:25
HP:0001251	Ataxia	291	SLC25A4	ORPHA:254892
HP:0001251	Ataxia	5428	POLG	ORPHA:254892
HP:0001251	Ataxia	5428	POLG	ORPHA:254886
HP:0001251	Ataxia	5428	POLG	ORPHA:94125
HP:0001251	Ataxia	5428	POLG	OMIM:203700
HP:0001251	Ataxia	5428	POLG	OMIM:613662
HP:0001251	Ataxia	5428	POLG	OMIM:607459
HP:0001251	Ataxia	5428	POLG	ORPHA:726
HP:0001251	Ataxia	2074	ERCC6	OMIM:133540
HP:0001251	Ataxia	2074	ERCC6	ORPHA:90321
HP:0001251	Ataxia	2074	ERCC6	ORPHA:90322
HP:0001251	Ataxia	2074	ERCC6	OMIM:278800
HP:0001251	Ataxia	9361	LONP1	OMIM:600373
HP:0001251	Ataxia	9361	LONP1	ORPHA:79243
HP:0001251	Ataxia	3155	HMGCL	ORPHA:20
HP:0001251	Ataxia	4513	MT-CO2	ORPHA:550
HP:0001251	Ataxia	4578	MT-TW	ORPHA:550
HP:0001251	Ataxia	4578	MT-TW	ORPHA:255210
HP:0001251	Ataxia	7915	ALDH5A1	ORPHA:22
HP:0001251	Ataxia	7915	ALDH5A1	OMIM:271980
HP:0001251	Ataxia	6134	RPL10	OMIM:300998
HP:0001251	Ataxia	6134	RPL10	ORPHA:459070
HP:0001251	Ataxia	56896	DPYSL5	OMIM:619435
HP:0001251	Ataxia	1859	DYRK1A	ORPHA:268261
HP:0001251	Ataxia	1859	DYRK1A	OMIM:614104
HP:0001251	Ataxia	123606	NIPA1	ORPHA:261183
HP:0001251	Ataxia	7283	TUBG1	ORPHA:261183
HP:0001251	Ataxia	81614	NIPA2	ORPHA:261183
HP:0001251	Ataxia	4311	MME	OMIM:617018
HP:0001251	Ataxia	2495	FTH1	OMIM:620669
HP:0001251	Ataxia	53371	NUP54	OMIM:620427
HP:0001251	Ataxia	53371	NUP54	ORPHA:225154
HP:0001251	Ataxia	51259	TMEM216	OMIM:608091
HP:0001251	Ataxia	51259	TMEM216	ORPHA:2318
HP:0001251	Ataxia	51259	TMEM216	ORPHA:2754
HP:0001251	Ataxia	9526	MPDU1	OMIM:609180
HP:0001251	Ataxia	253738	EBF3	ORPHA:96148
HP:0001251	Ataxia	253738	EBF3	OMIM:617330
HP:0001251	Ataxia	144165	PRICKLE1	ORPHA:308
HP:0001251	Ataxia	144165	PRICKLE1	OMIM:612437
HP:0001251	Ataxia	1476	CSTB	ORPHA:308
HP:0001251	Ataxia	1476	CSTB	OMIM:254800
HP:0001251	Ataxia	950	SCARB2	ORPHA:308
HP:0001251	Ataxia	3708	ITPR1	ORPHA:208513
HP:0001251	Ataxia	3708	ITPR1	ORPHA:1065
HP:0001251	Ataxia	3708	ITPR1	ORPHA:98769
HP:0001251	Ataxia	3708	ITPR1	OMIM:117360
HP:0001251	Ataxia	3708	ITPR1	OMIM:206700
HP:0001251	Ataxia	4967	OGDH	ORPHA:31
HP:0001251	Ataxia	7084	TK2	ORPHA:254886
HP:0001251	Ataxia	6567	SLC16A2	OMIM:300523
HP:0001251	Ataxia	6567	SLC16A2	ORPHA:59
HP:0001251	Ataxia	23114	NFASC	OMIM:618356
HP:0001251	Ataxia	64801	ARV1	OMIM:617020
HP:0001251	Ataxia	6647	SOD1	OMIM:618598
HP:0001251	Ataxia	55182	RNF220	OMIM:619688
HP:0001251	Ataxia	3767	KCNJ11	ORPHA:99885
HP:0001251	Ataxia	6774	STAT3	ORPHA:99885
HP:0001251	Ataxia	2645	GCK	ORPHA:99885
HP:0001251	Ataxia	3651	PDX1	ORPHA:99885
HP:0001251	Ataxia	6833	ABCC8	ORPHA:99885
HP:0001251	Ataxia	6833	ABCC8	OMIM:240800
HP:0001251	Ataxia	3630	INS	ORPHA:99885
HP:0001251	Ataxia	343641	TGM6	OMIM:613908
HP:0001251	Ataxia	7337	UBE3A	ORPHA:98794
HP:0001251	Ataxia	7337	UBE3A	ORPHA:411511
HP:0001251	Ataxia	7337	UBE3A	ORPHA:411515
HP:0001251	Ataxia	7337	UBE3A	OMIM:105830
HP:0001251	Ataxia	7337	UBE3A	ORPHA:238446
HP:0001251	Ataxia	4948	OCA2	ORPHA:98794
HP:0001251	Ataxia	55777	MBD5	OMIM:156200
HP:0001251	Ataxia	55777	MBD5	ORPHA:228402
HP:0001251	Ataxia	547	KIF1A	ORPHA:101010
HP:0001251	Ataxia	547	KIF1A	OMIM:610357
HP:0001251	Ataxia	547	KIF1A	OMIM:614255
HP:0001251	Ataxia	347733	TUBB2B	ORPHA:467166
HP:0001251	Ataxia	347733	TUBB2B	ORPHA:1766
HP:0001251	Ataxia	7846	TUBA1A	ORPHA:467166
HP:0001251	Ataxia	7846	TUBA1A	OMIM:611603
HP:0001251	Ataxia	10381	TUBB3	ORPHA:467166
HP:0001251	Ataxia	8888	MCM3AP	OMIM:618124
HP:0001251	Ataxia	4141	MARS1	OMIM:619692
HP:0001251	Ataxia	3746	KCNC1	OMIM:616187
HP:0001251	Ataxia	549	AUH	OMIM:250950
HP:0001251	Ataxia	6821	SUOX	OMIM:272300
HP:0001251	Ataxia	2632	GBE1	ORPHA:206583
HP:0001251	Ataxia	5805	PTS	ORPHA:13
HP:0001251	Ataxia	5805	PTS	OMIM:261640
HP:0001251	Ataxia	4547	MTTP	ORPHA:14
HP:0001251	Ataxia	4547	MTTP	OMIM:200100
HP:0001251	Ataxia	51102	MECR	OMIM:617282
HP:0001251	Ataxia	51102	MECR	ORPHA:508093
HP:0001251	Ataxia	2743	GLRB	ORPHA:3197
HP:0001251	Ataxia	2741	GLRA1	ORPHA:3197
HP:0001251	Ataxia	10243	GPHN	ORPHA:3197
HP:0001251	Ataxia	84896	ATAD1	ORPHA:3197
HP:0001251	Ataxia	9152	SLC6A5	ORPHA:3197
HP:0001251	Ataxia	6390	SDHB	OMIM:619224
HP:0001251	Ataxia	6390	SDHB	ORPHA:3208
HP:0001251	Ataxia	6390	SDHB	ORPHA:201
HP:0001251	Ataxia	55630	SLC39A4	OMIM:201100
HP:0001251	Ataxia	9758	FRMPD4	OMIM:300983
HP:0001251	Ataxia	3188	HNRNPH2	OMIM:300986
HP:0001251	Ataxia	2071	ERCC3	OMIM:610651
HP:0001251	Ataxia	2071	ERCC3	ORPHA:910
HP:0001251	Ataxia	2071	ERCC3	ORPHA:220295
HP:0001251	Ataxia	6304	SATB1	OMIM:619228
HP:0001251	Ataxia	6304	SATB1	OMIM:619229
HP:0001251	Ataxia	64374	SIL1	ORPHA:559
HP:0001251	Ataxia	64374	SIL1	OMIM:248800
HP:0001251	Ataxia	220296	HEPACAM	OMIM:613925
HP:0001251	Ataxia	220296	HEPACAM	OMIM:604004
HP:0001251	Ataxia	79736	TEFM	OMIM:620451
HP:0001251	Ataxia	65260	COA7	OMIM:618387
HP:0001251	Ataxia	27107	ZBTB11	OMIM:618383
HP:0001251	Ataxia	64849	SLC13A3	OMIM:618384
HP:0001251	Ataxia	94005	PIGS	OMIM:618143
HP:0001251	Ataxia	6711	SPTBN1	OMIM:619475
HP:0001251	Ataxia	4361	MRE11	ORPHA:251347
HP:0001251	Ataxia	4361	MRE11	OMIM:604391
HP:0001251	Ataxia	378884	NHLRC1	ORPHA:501
HP:0001251	Ataxia	7957	EPM2A	ORPHA:501
HP:0001251	Ataxia	1457	CSNK2A1	OMIM:617062
HP:0001251	Ataxia	6872	TAF1	OMIM:300966
HP:0001251	Ataxia	4841	NONO	OMIM:300967
HP:0001251	Ataxia	4841	NONO	ORPHA:466791
HP:0001251	Ataxia	5625	PRODH	OMIM:239500
HP:0001251	Ataxia	6663	SOX10	OMIM:609136
HP:0001251	Ataxia	6663	SOX10	ORPHA:163746
HP:0001251	Ataxia	6663	SOX10	ORPHA:478
HP:0001251	Ataxia	26278	SACS	OMIM:270550
HP:0001251	Ataxia	26278	SACS	ORPHA:98
HP:0001251	Ataxia	55670	PEX26	ORPHA:772
HP:0001251	Ataxia	5824	PEX19	ORPHA:772
HP:0001251	Ataxia	5828	PEX2	ORPHA:772
HP:0001251	Ataxia	5828	PEX2	OMIM:614867
HP:0001251	Ataxia	8504	PEX3	ORPHA:772
HP:0001251	Ataxia	9409	PEX16	ORPHA:772
HP:0001251	Ataxia	9409	PEX16	OMIM:614877
HP:0001251	Ataxia	5190	PEX6	ORPHA:772
HP:0001251	Ataxia	5190	PEX6	OMIM:614863
HP:0001251	Ataxia	8799	PEX11B	ORPHA:772
HP:0001251	Ataxia	5830	PEX5	ORPHA:772
HP:0001251	Ataxia	5189	PEX1	ORPHA:772
HP:0001251	Ataxia	5193	PEX12	ORPHA:772
HP:0001251	Ataxia	5193	PEX12	OMIM:266510
HP:0001251	Ataxia	5194	PEX13	ORPHA:772
HP:0001251	Ataxia	5195	PEX14	ORPHA:772
HP:0001251	Ataxia	5192	PEX10	ORPHA:772
HP:0001251	Ataxia	5192	PEX10	OMIM:614871
HP:0001251	Ataxia	403	ARL3	OMIM:618161
HP:0001251	Ataxia	403	ARL3	ORPHA:475
HP:0001251	Ataxia	5264	PHYH	ORPHA:773
HP:0001251	Ataxia	5264	PHYH	OMIM:266500
HP:0001251	Ataxia	5191	PEX7	ORPHA:773
HP:0001251	Ataxia	5191	PEX7	OMIM:614879
HP:0001251	Ataxia	5191	PEX7	OMIM:266500
HP:0001251	Ataxia	3090	HIC1	ORPHA:531
HP:0001251	Ataxia	5048	PAFAH1B1	ORPHA:531
HP:0001251	Ataxia	7531	YWHAE	ORPHA:531
HP:0001251	Ataxia	6389	SDHA	OMIM:619259
HP:0001251	Ataxia	6389	SDHA	ORPHA:3208
HP:0001251	Ataxia	6389	SDHA	OMIM:252011
HP:0001251	Ataxia	727676	SNORD118	ORPHA:542310
HP:0001251	Ataxia	727676	SNORD118	OMIM:614561
HP:0001251	Ataxia	54187	NANS	OMIM:610442
HP:0001251	Ataxia	203190	LGI3	OMIM:620007
HP:0001251	Ataxia	875	CBS	OMIM:236200
HP:0001251	Ataxia	91147	TMEM67	OMIM:610688
HP:0001251	Ataxia	91147	TMEM67	OMIM:216360
HP:0001251	Ataxia	91147	TMEM67	ORPHA:1454
HP:0001251	Ataxia	91147	TMEM67	ORPHA:475
HP:0001251	Ataxia	54936	ADPRS	OMIM:618170
HP:0001251	Ataxia	4860	PNP	ORPHA:760
HP:0001251	Ataxia	4860	PNP	OMIM:613179
HP:0001251	Ataxia	64802	NMNAT1	OMIM:619260
HP:0001251	Ataxia	84274	COQ5	OMIM:619028
HP:0001251	Ataxia	1496	CTNNA2	OMIM:618174
HP:0001251	Ataxia	6559	SLC12A3	OMIM:263800
HP:0001251	Ataxia	1373	CPS1	OMIM:237300
HP:0001251	Ataxia	284111	SLC13A5	OMIM:615905
HP:0001251	Ataxia	284111	SLC13A5	ORPHA:442835
HP:0001251	Ataxia	26146	TRAF3IP1	ORPHA:3156
HP:0001251	Ataxia	9657	IQCB1	ORPHA:3156
HP:0001251	Ataxia	27130	INVS	ORPHA:3156
HP:0001251	Ataxia	261734	NPHP4	ORPHA:3156
HP:0001251	Ataxia	57728	WDR19	ORPHA:3156
HP:0001251	Ataxia	27031	NPHP3	ORPHA:3156
HP:0001251	Ataxia	22897	CEP164	ORPHA:3156
HP:0001251	Ataxia	55294	FBXW7	OMIM:620012
HP:0001251	Ataxia	6095	RORA	OMIM:618060
HP:0001251	Ataxia	5138	PDE2A	OMIM:619150
HP:0001251	Ataxia	773	CACNA1A	OMIM:183086
HP:0001251	Ataxia	773	CACNA1A	ORPHA:97
HP:0001251	Ataxia	773	CACNA1A	ORPHA:2131
HP:0001251	Ataxia	773	CACNA1A	ORPHA:442835
HP:0001251	Ataxia	773	CACNA1A	OMIM:617106
HP:0001251	Ataxia	773	CACNA1A	ORPHA:71518
HP:0001251	Ataxia	773	CACNA1A	OMIM:141500
HP:0001251	Ataxia	5009	OTC	OMIM:311250
HP:0001251	Ataxia	1593	CYP27A1	OMIM:213700
HP:0001251	Ataxia	1593	CYP27A1	ORPHA:909
HP:0001251	Ataxia	785	CACNB4	OMIM:613855
HP:0001251	Ataxia	785	CACNB4	ORPHA:211067
HP:0001251	Ataxia	324	APC	ORPHA:99818
HP:0001251	Ataxia	123263	MTFMT	OMIM:614947
HP:0001251	Ataxia	123263	MTFMT	OMIM:618248
HP:0001251	Ataxia	2896	GRN	OMIM:614706
HP:0001251	Ataxia	55775	TDP1	ORPHA:94124
HP:0001251	Ataxia	55775	TDP1	OMIM:607250
HP:0001251	Ataxia	79581	SLC52A2	OMIM:614707
HP:0001251	Ataxia	2038	EPB42	ORPHA:822
HP:0001251	Ataxia	6521	SLC4A1	ORPHA:822
HP:0001251	Ataxia	6710	SPTB	ORPHA:822
HP:0001251	Ataxia	6708	SPTA1	ORPHA:822
HP:0001251	Ataxia	286	ANK1	ORPHA:822
HP:0001251	Ataxia	6535	SLC6A8	ORPHA:52503
HP:0001251	Ataxia	51506	UFC1	OMIM:618076
HP:0001251	Ataxia	6311	ATXN2	OMIM:183090
HP:0001251	Ataxia	6392	SDHD	OMIM:619167
HP:0001251	Ataxia	6392	SDHD	ORPHA:3208
HP:0001251	Ataxia	6392	SDHD	ORPHA:201
HP:0001251	Ataxia	9640	ZNF592	ORPHA:83472
HP:0001251	Ataxia	84942	WDR73	ORPHA:83472
HP:0001251	Ataxia	84942	WDR73	OMIM:251300
HP:0001251	Ataxia	54476	RNF216	OMIM:212840
HP:0001251	Ataxia	54476	RNF216	ORPHA:1173
HP:0001251	Ataxia	4758	NEU1	ORPHA:812
HP:0001251	Ataxia	4758	NEU1	ORPHA:93400
HP:0001251	Ataxia	4758	NEU1	ORPHA:93399
HP:0001251	Ataxia	4884	NPTX1	OMIM:620158
HP:0001251	Ataxia	25839	COG4	ORPHA:263501
HP:0001251	Ataxia	25839	COG4	OMIM:613489
HP:0001251	Ataxia	84992	PIGY	ORPHA:247262
HP:0001251	Ataxia	84720	PIGO	ORPHA:247262
HP:0001251	Ataxia	93210	PGAP3	ORPHA:247262
HP:0001251	Ataxia	284098	PIGW	ORPHA:247262
HP:0001251	Ataxia	27315	PGAP2	ORPHA:247262
HP:0001251	Ataxia	55650	PIGV	ORPHA:247262
HP:0001251	Ataxia	9487	PIGL	ORPHA:247262
HP:0001251	Ataxia	1738	DLD	ORPHA:2394
HP:0001251	Ataxia	1738	DLD	OMIM:246900
HP:0001251	Ataxia	3064	HTT	ORPHA:248111
HP:0001251	Ataxia	8913	CACNA1G	OMIM:618087
HP:0001251	Ataxia	8913	CACNA1G	OMIM:616795
HP:0001251	Ataxia	64207	IRF2BPL	OMIM:618088
HP:0001251	Ataxia	1716	DGUOK	ORPHA:329314
HP:0001251	Ataxia	129607	CMPK2	OMIM:621018
HP:0001251	Ataxia	5080	PAX6	ORPHA:1065
HP:0001251	Ataxia	114034	TOE1	OMIM:614969
HP:0001251	Ataxia	1509	CTSD	OMIM:610127
HP:0001251	Ataxia	29967	LRP12	OMIM:164310
HP:0001251	Ataxia	9570	GOSR2	OMIM:620166
HP:0001251	Ataxia	9570	GOSR2	OMIM:614018
HP:0001251	Ataxia	2332	FMR1	ORPHA:93256
HP:0001251	Ataxia	823	CAPN1	OMIM:616907
HP:0001251	Ataxia	823	CAPN1	ORPHA:488594
HP:0001251	Ataxia	10273	STUB1	OMIM:618093
HP:0001251	Ataxia	7274	TTPA	ORPHA:96
HP:0001251	Ataxia	7274	TTPA	OMIM:277460
HP:0001251	Ataxia	57531	HACE1	ORPHA:464282
HP:0001251	Ataxia	57531	HACE1	OMIM:616756
HP:0001251	Ataxia	57531	HACE1	ORPHA:635
HP:0001251	Ataxia	10367	MICU1	ORPHA:401768
HP:0001251	Ataxia	10367	MICU1	OMIM:615673
HP:0001251	Ataxia	9445	ITM2B	OMIM:117300
HP:0001251	Ataxia	7156	TOP3A	OMIM:618098
HP:0001251	Ataxia	84342	COG8	ORPHA:95428
HP:0001251	Ataxia	84342	COG8	OMIM:611182
HP:0001251	Ataxia	11284	PNKP	OMIM:613402
HP:0001251	Ataxia	11284	PNKP	ORPHA:459033
HP:0001251	Ataxia	11284	PNKP	OMIM:616267
HP:0001251	Ataxia	113235	SLC46A1	OMIM:229050
HP:0001251	Ataxia	54872	PIGG	OMIM:616917
HP:0001251	Ataxia	54872	PIGG	ORPHA:280
HP:0001251	Ataxia	9907	AP5Z1	OMIM:613647
HP:0001251	Ataxia	9907	AP5Z1	ORPHA:306511
HP:0001251	Ataxia	79152	FA2H	OMIM:612319
HP:0001251	Ataxia	113278	SLC52A3	OMIM:211530
HP:0001251	Ataxia	3752	KCND3	ORPHA:98772
HP:0001251	Ataxia	3735	KARS1	OMIM:619196
HP:0001251	Ataxia	1798	DPAGT1	ORPHA:86309
HP:0001251	Ataxia	7840	ALMS1	ORPHA:64
HP:0001251	Ataxia	2512	FTL	OMIM:606159
HP:0001251	Ataxia	84138	SLC7A6OS	OMIM:619191
HP:0001251	Ataxia	593	BCKDHA	OMIM:248600
HP:0001251	Ataxia	23533	PIK3R5	ORPHA:64753
HP:0001251	Ataxia	23533	PIK3R5	OMIM:615217
HP:0001251	Ataxia	23064	SETX	ORPHA:64753
HP:0001251	Ataxia	6507	SLC1A3	ORPHA:2131
HP:0001251	Ataxia	6507	SLC1A3	ORPHA:209967
HP:0001251	Ataxia	477	ATP1A2	ORPHA:2131
HP:0001251	Ataxia	477	ATP1A2	ORPHA:442835
HP:0001251	Ataxia	478	ATP1A3	ORPHA:2131
HP:0001251	Ataxia	478	ATP1A3	ORPHA:442835
HP:0001251	Ataxia	478	ATP1A3	OMIM:601338
HP:0001251	Ataxia	478	ATP1A3	OMIM:614820
HP:0001251	Ataxia	478	ATP1A3	ORPHA:1171
HP:0001251	Ataxia	90624	LYRM7	OMIM:615838
HP:0001251	Ataxia	493856	CISD2	ORPHA:3463
HP:0001251	Ataxia	7466	WFS1	ORPHA:3463
HP:0001251	Ataxia	7466	WFS1	OMIM:222300
HP:0001251	Ataxia	80025	PANK2	OMIM:234200
HP:0001251	Ataxia	25894	PLEKHG4	ORPHA:98765
HP:0001251	Ataxia	724066	ATXN8	ORPHA:98760
HP:0001251	Ataxia	6315	ATXN8OS	ORPHA:98760
HP:0001251	Ataxia	23503	ZFYVE26	OMIM:270700
HP:0001251	Ataxia	283209	PGM2L1	OMIM:620191
HP:0001251	Ataxia	1737	DLAT	OMIM:245348
HP:0001251	Ataxia	492	ATP2B3	OMIM:302500
HP:0001251	Ataxia	5521	PPP2R2B	ORPHA:98762
HP:0001251	Ataxia	8050	PDHX	OMIM:245349
HP:0001251	Ataxia	2934	GSN	ORPHA:85448
HP:0001251	Ataxia	1910	EDNRB	OMIM:277580
HP:0001251	Ataxia	3662	IRF4	ORPHA:3452
HP:0001251	Ataxia	6908	TBP	ORPHA:98759
HP:0001251	Ataxia	6908	TBP	OMIM:607136
HP:0001251	Ataxia	11128	POLR3A	ORPHA:3455
HP:0001251	Ataxia	11128	POLR3A	OMIM:607694
HP:0001251	Ataxia	11128	POLR3A	ORPHA:88637
HP:0001251	Ataxia	11128	POLR3A	ORPHA:447896
HP:0001251	Ataxia	55343	SLC35C1	ORPHA:99843
HP:0001251	Ataxia	34	ACADM	ORPHA:42
HP:0001251	Ataxia	8813	DPM1	OMIM:608799
HP:0001251	Ataxia	8813	DPM1	ORPHA:79322
HP:0001251	Ataxia	340024	SLC6A19	ORPHA:2116
HP:0001251	Ataxia	57393	CLTRN	ORPHA:2116
HP:0001251	Ataxia	644096	SDHAF1	ORPHA:3208
HP:0001251	Ataxia	445	ASS1	OMIM:215700
HP:0001251	Ataxia	5663	PSEN1	ORPHA:1020
HP:0001251	Ataxia	5664	PSEN2	ORPHA:1020
HP:0001251	Ataxia	10452	TOMM40	ORPHA:1020
HP:0001251	Ataxia	351	APP	ORPHA:1020
HP:0001251	Ataxia	54209	TREM2	ORPHA:1020
HP:0001251	Ataxia	10347	ABCA7	ORPHA:1020
HP:0001251	Ataxia	6653	SORL1	ORPHA:1020
HP:0001251	Ataxia	10815	CPLX1	ORPHA:352582
HP:0001251	Ataxia	10815	CPLX1	ORPHA:280
HP:0001251	Ataxia	57465	TBC1D24	ORPHA:352582
HP:0001251	Ataxia	57465	TBC1D24	OMIM:605021
HP:0001251	Ataxia	200403	VWA3B	OMIM:616948
HP:0001251	Ataxia	6314	ATXN7	ORPHA:94147
HP:0001251	Ataxia	80331	DNAJC5	OMIM:162350
HP:0001251	Ataxia	22907	DHX30	OMIM:617804
HP:0001251	Ataxia	51308	REEP2	OMIM:615625
HP:0001251	Ataxia	57165	GJC2	OMIM:613206
HP:0001251	Ataxia	57165	GJC2	OMIM:608804
HP:0001251	Ataxia	57165	GJC2	ORPHA:320401
HP:0001251	Ataxia	9894	TELO2	OMIM:616954
HP:0001251	Ataxia	9894	TELO2	ORPHA:488642
HP:0001251	Ataxia	339453	TMEM240	OMIM:607454
HP:0001251	Ataxia	3798	KIF5A	OMIM:604187
HP:0001251	Ataxia	4976	OPA1	OMIM:210000
HP:0001251	Ataxia	4976	OPA1	ORPHA:1215
HP:0001251	Ataxia	4976	OPA1	ORPHA:98673
HP:0001251	Ataxia	4976	OPA1	OMIM:165500
HP:0001251	Ataxia	4976	OPA1	OMIM:125250
HP:0001251	Ataxia	6513	SLC2A1	ORPHA:71277
HP:0001251	Ataxia	6513	SLC2A1	OMIM:612126
HP:0001251	Ataxia	6513	SLC2A1	OMIM:606777
HP:0001251	Ataxia	6513	SLC2A1	ORPHA:1942
HP:0001251	Ataxia	6513	SLC2A1	ORPHA:168577
HP:0001251	Ataxia	6513	SLC2A1	ORPHA:98811
HP:0001251	Ataxia	6513	SLC2A1	OMIM:608885
HP:0001251	Ataxia	6323	SCN1A	OMIM:607208
HP:0001251	Ataxia	6323	SCN1A	ORPHA:442835
HP:0001251	Ataxia	6323	SCN1A	ORPHA:1942
HP:0001251	Ataxia	6323	SCN1A	OMIM:619317
HP:0001251	Ataxia	6323	SCN1A	ORPHA:36387
HP:0001251	Ataxia	348980	HCN1	OMIM:615871
HP:0001251	Ataxia	348980	HCN1	ORPHA:442835
HP:0001251	Ataxia	348980	HCN1	ORPHA:36387
HP:0001251	Ataxia	124997	WDR81	OMIM:610185
HP:0001251	Ataxia	124997	WDR81	ORPHA:1766
HP:0001251	Ataxia	79848	CSPP1	OMIM:615636
HP:0001251	Ataxia	79848	CSPP1	ORPHA:475
HP:0001251	Ataxia	6334	SCN8A	OMIM:614306
HP:0001251	Ataxia	6334	SCN8A	ORPHA:442835
HP:0001251	Ataxia	6948	TCN2	OMIM:275350
HP:0001251	Ataxia	23600	AMACR	OMIM:614307
HP:0001251	Ataxia	23600	AMACR	ORPHA:79095
HP:0001251	Ataxia	6261	RYR1	ORPHA:466650
HP:0001251	Ataxia	1776	DNASE1L3	ORPHA:36412
HP:0001251	Ataxia	26580	BSCL2	ORPHA:363400
HP:0001251	Ataxia	26580	BSCL2	OMIM:615924
HP:0001251	Ataxia	9150	CTDP1	OMIM:604168
HP:0001251	Ataxia	9150	CTDP1	ORPHA:48431
HP:0001251	Ataxia	3074	HEXB	OMIM:268800
HP:0001251	Ataxia	3074	HEXB	ORPHA:309162
HP:0001251	Ataxia	84816	RTN4IP1	OMIM:616732
HP:0001251	Ataxia	131118	DNAJC19	OMIM:610198
HP:0001251	Ataxia	131118	DNAJC19	ORPHA:66634
HP:0001251	Ataxia	998	CDC42	OMIM:616737
HP:0001251	Ataxia	57505	AARS2	OMIM:615889
HP:0001251	Ataxia	50	ACO2	OMIM:614559
HP:0001251	Ataxia	3097	HIVEP2	OMIM:616977
HP:0001251	Ataxia	3897	L1CAM	ORPHA:306617
HP:0001251	Ataxia	767	CA8	OMIM:613227
HP:0001251	Ataxia	767	CA8	ORPHA:1766
HP:0001251	Ataxia	26277	TINF2	OMIM:127550
HP:0001251	Ataxia	26277	TINF2	OMIM:268130
HP:0001251	Ataxia	26277	TINF2	OMIM:613990
HP:0001251	Ataxia	26277	TINF2	ORPHA:3322
HP:0001251	Ataxia	7012	TERC	OMIM:127550
HP:0001251	Ataxia	7015	TERT	OMIM:127550
HP:0001251	Ataxia	7015	TERT	ORPHA:2495
HP:0001251	Ataxia	7015	TERT	ORPHA:3322
HP:0001251	Ataxia	2561	GABRB2	OMIM:617829
HP:0001251	Ataxia	2561	GABRB2	ORPHA:442835
HP:0001251	Ataxia	4694	NDUFA1	OMIM:301020
HP:0001251	Ataxia	4694	NDUFA1	ORPHA:2609
HP:0001251	Ataxia	27235	COQ2	OMIM:607426
HP:0001251	Ataxia	27235	COQ2	OMIM:146500
HP:0001251	Ataxia	2821	GPI	OMIM:613470
HP:0001251	Ataxia	10560	SLC19A2	OMIM:249270
HP:0001251	Ataxia	116150	NUS1	OMIM:617831
HP:0001251	Ataxia	116150	NUS1	ORPHA:442835
HP:0001251	Ataxia	51741	WWOX	OMIM:614322
HP:0001251	Ataxia	51741	WWOX	OMIM:616211
HP:0001251	Ataxia	51741	WWOX	ORPHA:442835
HP:0001251	Ataxia	4358	MPV17	OMIM:256810
HP:0001251	Ataxia	79947	DHDDS	OMIM:617836
HP:0001251	Ataxia	79947	DHDDS	ORPHA:442835
HP:0001251	Ataxia	91137	SLC25A46	OMIM:616505
HP:0001251	Ataxia	91137	SLC25A46	ORPHA:2254
HP:0001251	Ataxia	79583	TMEM231	ORPHA:2318
HP:0001251	Ataxia	79583	TMEM231	ORPHA:2754
HP:0001251	Ataxia	51524	TMEM138	ORPHA:2318
HP:0001251	Ataxia	23090	ZNF423	ORPHA:2318
HP:0001251	Ataxia	57545	CC2D2A	ORPHA:2318
HP:0001251	Ataxia	57545	CC2D2A	ORPHA:1454
HP:0001251	Ataxia	5981	RFC1	OMIM:614575
HP:0001251	Ataxia	1213	CLTC	OMIM:617854
HP:0001251	Ataxia	1213	CLTC	ORPHA:442835
HP:0001251	Ataxia	131669	UROC1	OMIM:276880
HP:0001251	Ataxia	131669	UROC1	ORPHA:210128
HP:0001251	Ataxia	28514	DLL1	OMIM:618709
HP:0001251	Ataxia	80781	COL18A1	OMIM:267750
HP:0001251	Ataxia	56910	STARD7	OMIM:607876
HP:0001251	Ataxia	26503	SLC17A5	OMIM:604369
HP:0001251	Ataxia	6182	MRPL12	OMIM:618951
HP:0001251	Ataxia	57688	ZSWIM6	OMIM:617865
HP:0001251	Ataxia	51816	ADA2	OMIM:615688
HP:0001251	Ataxia	60482	SLC5A7	ORPHA:98914
HP:0001251	Ataxia	4649	MYO9A	ORPHA:98914
HP:0001251	Ataxia	1305	COL13A1	ORPHA:98914
HP:0001251	Ataxia	1103	CHAT	ORPHA:98914
HP:0001251	Ataxia	6576	SLC25A1	ORPHA:98914
HP:0001251	Ataxia	6843	VAMP1	ORPHA:98914
HP:0001251	Ataxia	375790	AGRN	ORPHA:98914
HP:0001251	Ataxia	127833	SYT2	ORPHA:98914
HP:0001251	Ataxia	6572	SLC18A3	ORPHA:98914
HP:0001251	Ataxia	6785	ELOVL4	OMIM:133190
HP:0001251	Ataxia	617	BCS1L	OMIM:124000
HP:0001251	Ataxia	9516	LITAF	OMIM:601098
HP:0001251	Ataxia	80208	SPG11	OMIM:604360
HP:0001251	Ataxia	80208	SPG11	ORPHA:2822
HP:0001251	Ataxia	80208	SPG11	ORPHA:300605
HP:0001251	Ataxia	5456	POU3F4	ORPHA:1435
HP:0001251	Ataxia	10577	NPC2	OMIM:607625
HP:0001251	Ataxia	7518	XRCC4	OMIM:616541
HP:0001251	Ataxia	9731	CEP104	OMIM:616781
HP:0001251	Ataxia	9731	CEP104	ORPHA:475
HP:0001251	Ataxia	4724	NDUFS4	OMIM:252010
HP:0001251	Ataxia	4724	NDUFS4	ORPHA:2609
HP:0001251	Ataxia	23389	MED13L	OMIM:616789
HP:0001251	Ataxia	23389	MED13L	ORPHA:369891
HP:0001251	Ataxia	8481	OFD1	ORPHA:2750
HP:0001251	Ataxia	8481	OFD1	ORPHA:2754
HP:0001251	Ataxia	8481	OFD1	ORPHA:475
HP:0001251	Ataxia	3778	KCNMA1	OMIM:618729
HP:0001251	Ataxia	8086	AAAS	OMIM:231550
HP:0001251	Ataxia	8086	AAAS	ORPHA:869
HP:0001251	Ataxia	10210	TOPORS	ORPHA:2754
HP:0001251	Ataxia	9851	KIAA0753	ORPHA:2754
HP:0001251	Ataxia	9851	KIAA0753	ORPHA:475
HP:0001251	Ataxia	26123	TCTN3	ORPHA:2754
HP:0001251	Ataxia	26123	TCTN3	ORPHA:475
HP:0001251	Ataxia	5147	PDE6D	ORPHA:2754
HP:0001251	Ataxia	5147	PDE6D	ORPHA:475
HP:0001251	Ataxia	65250	CPLANE1	ORPHA:2754
HP:0001251	Ataxia	65250	CPLANE1	ORPHA:475
HP:0001251	Ataxia	65250	CPLANE1	OMIM:614615
HP:0001251	Ataxia	317662	FAM149B1	ORPHA:2754
HP:0001251	Ataxia	374654	KIF7	ORPHA:2754
HP:0001251	Ataxia	87178	PNPT1	OMIM:608703
HP:0001251	Ataxia	9699	RIMS2	OMIM:618970
HP:0001251	Ataxia	672	BRCA1	OMIM:617883
HP:0001251	Ataxia	4747	NEFL	OMIM:617882
HP:0001251	Ataxia	80169	CTC1	OMIM:612199
HP:0001251	Ataxia	8398	PLA2G6	OMIM:256600
HP:0001251	Ataxia	8398	PLA2G6	ORPHA:35069
HP:0001251	Ataxia	6638	SNRPN	ORPHA:411515
HP:0001251	Ataxia	6638	SNRPN	OMIM:105830
HP:0001251	Ataxia	57194	ATP10A	ORPHA:411515
HP:0001251	Ataxia	56978	PRDM8	ORPHA:324290
HP:0001251	Ataxia	56978	PRDM8	OMIM:616640
HP:0001251	Ataxia	4287	ATXN3	OMIM:109150
HP:0001251	Ataxia	54539	NDUFB11	ORPHA:2609
HP:0001251	Ataxia	25915	NDUFAF3	ORPHA:2609
HP:0001251	Ataxia	51103	NDUFAF1	ORPHA:2609
HP:0001251	Ataxia	91942	NDUFAF2	ORPHA:2609
HP:0001251	Ataxia	91942	NDUFAF2	OMIM:618233
HP:0001251	Ataxia	51300	TIMMDC1	ORPHA:2609
HP:0001251	Ataxia	4716	NDUFB10	ORPHA:2609
HP:0001251	Ataxia	4723	NDUFV1	ORPHA:2609
HP:0001251	Ataxia	4723	NDUFV1	OMIM:618225
HP:0001251	Ataxia	55572	FOXRED1	ORPHA:2609
HP:0001251	Ataxia	284184	NDUFAF8	ORPHA:2609
HP:0001251	Ataxia	55863	TMEM126B	ORPHA:2609
HP:0001251	Ataxia	4537	MT-ND3	ORPHA:2609
HP:0001251	Ataxia	4537	MT-ND3	ORPHA:255210
HP:0001251	Ataxia	4729	NDUFV2	ORPHA:2609
HP:0001251	Ataxia	4726	NDUFS6	ORPHA:2609
HP:0001251	Ataxia	4728	NDUFS8	ORPHA:2609
HP:0001251	Ataxia	4722	NDUFS3	ORPHA:2609
HP:0001251	Ataxia	79133	NDUFAF5	ORPHA:2609
HP:0001251	Ataxia	126328	NDUFA11	ORPHA:2609
HP:0001251	Ataxia	4709	NDUFB3	ORPHA:2609
HP:0001251	Ataxia	80224	NUBPL	ORPHA:2609
HP:0001251	Ataxia	80224	NUBPL	OMIM:618242
HP:0001251	Ataxia	29078	NDUFAF4	ORPHA:2609
HP:0001251	Ataxia	374291	NDUFS7	ORPHA:2609
HP:0001251	Ataxia	374291	NDUFS7	OMIM:618224
HP:0001251	Ataxia	4700	NDUFA6	ORPHA:2609
HP:0001251	Ataxia	4719	NDUFS1	ORPHA:2609
HP:0001251	Ataxia	4719	NDUFS1	OMIM:618226
HP:0001251	Ataxia	4715	NDUFB9	ORPHA:2609
HP:0001251	Ataxia	29925	GMPPB	OMIM:615350
HP:0001251	Ataxia	8367	H4C5	OMIM:619950
HP:0001251	Ataxia	6834	SURF1	OMIM:616684
HP:0001251	Ataxia	6834	SURF1	OMIM:220110
HP:0001251	Ataxia	8518	ELP1	ORPHA:1764
HP:0001251	Ataxia	3145	HMBS	OMIM:620704
HP:0001251	Ataxia	3145	HMBS	OMIM:620711
HP:0001251	Ataxia	2895	GRID2	OMIM:616204
HP:0001251	Ataxia	22880	MORC2	OMIM:616688
HP:0001251	Ataxia	60684	TRAPPC11	OMIM:615356
HP:0001251	Ataxia	60684	TRAPPC11	ORPHA:869
HP:0001251	Ataxia	2720	GLB1	OMIM:230600
HP:0001251	Ataxia	2720	GLB1	OMIM:230650
HP:0001251	Ataxia	2720	GLB1	OMIM:253010
HP:0001251	Ataxia	1736	DKC1	OMIM:305000
HP:0001251	Ataxia	1736	DKC1	ORPHA:3322
HP:0001251	Ataxia	2072	ERCC4	ORPHA:90321
HP:0001251	Ataxia	2072	ERCC4	ORPHA:910
HP:0001251	Ataxia	2072	ERCC4	OMIM:278760
HP:0001251	Ataxia	2072	ERCC4	ORPHA:220295
HP:0001251	Ataxia	7436	VLDLR	ORPHA:1766
HP:0001251	Ataxia	51761	ATP8A2	ORPHA:1766
HP:0001251	Ataxia	2067	ERCC1	ORPHA:90322
HP:0001251	Ataxia	4577	MT-TV	ORPHA:255210
HP:0001251	Ataxia	8722	CTSF	OMIM:615362
HP:0001251	Ataxia	10026	PIGK	OMIM:618879
HP:0001251	Ataxia	101060691	NUTM2B-AS1	OMIM:618637
HP:0001251	Ataxia	2670	GFAP	OMIM:203450
HP:0001251	Ataxia	2670	GFAP	ORPHA:363722
HP:0001251	Ataxia	2670	GFAP	ORPHA:363717
HP:0001251	Ataxia	10730	YME1L1	OMIM:617302
HP:0001251	Ataxia	54982	CLN6	OMIM:204300
HP:0001251	Ataxia	10501	SEMA6B	OMIM:618876
HP:0001251	Ataxia	8309	ACOX2	OMIM:617308
HP:0001251	Ataxia	3781	KCNN2	OMIM:619725
HP:0001251	Ataxia	23474	ETHE1	ORPHA:51188
HP:0001251	Ataxia	23474	ETHE1	OMIM:602473
HP:0001251	Ataxia	10559	SLC35A1	OMIM:603585
HP:0001251	Ataxia	535	ATP6V0A1	OMIM:619971
HP:0001251	Ataxia	9698	PUM1	OMIM:620719
HP:0001251	Ataxia	9698	PUM1	OMIM:617931
HP:0001251	Ataxia	215	ABCD1	ORPHA:139396
HP:0001251	Ataxia	91869	RFT1	ORPHA:244310
HP:0001251	Ataxia	91869	RFT1	OMIM:612015
HP:0001251	Ataxia	816	CAMK2B	OMIM:617799
HP:0001251	Ataxia	10352	WARS2	OMIM:619738
HP:0001251	Ataxia	10352	WARS2	ORPHA:572798
HP:0001251	Ataxia	10352	WARS2	OMIM:617710
HP:0001251	Ataxia	7920	ABHD16A	OMIM:619735
HP:0001251	Ataxia	5621	PRNP	OMIM:600072
HP:0001251	Ataxia	5621	PRNP	ORPHA:466
HP:0001251	Ataxia	7469	NELFA	ORPHA:280
HP:0001251	Ataxia	1487	CTBP1	ORPHA:280
HP:0001251	Ataxia	1487	CTBP1	OMIM:617915
HP:0001251	Ataxia	3954	LETM1	ORPHA:280
HP:0001251	Ataxia	3954	LETM1	OMIM:620089
HP:0001251	Ataxia	7468	NSD2	ORPHA:280
HP:0001251	Ataxia	84504	NKX6-2	OMIM:617560
HP:0001251	Ataxia	84504	NKX6-2	ORPHA:527497
HP:0001251	Ataxia	54968	TMEM70	OMIM:614052
HP:0001251	Ataxia	83636	C19orf12	OMIM:614298
HP:0001251	Ataxia	84314	TMEM107	OMIM:617563
HP:0001251	Ataxia	84314	TMEM107	OMIM:617562
HP:0001251	Ataxia	246243	RNASEH1	OMIM:616479
HP:0001251	Ataxia	388962	BOLA3	OMIM:614299
HP:0001251	Ataxia	54840	APTX	OMIM:208920
HP:0001251	Ataxia	54840	APTX	ORPHA:1168
HP:0001251	Ataxia	1759	DNM1	ORPHA:442835
HP:0001251	Ataxia	8120	AP3B2	ORPHA:442835
HP:0001251	Ataxia	523	ATP6V1A	ORPHA:442835
HP:0001251	Ataxia	10991	SLC38A3	ORPHA:442835
HP:0001251	Ataxia	51343	FZR1	ORPHA:442835
HP:0001251	Ataxia	3747	KCNC2	ORPHA:442835
HP:0001251	Ataxia	3747	KCNC2	OMIM:619913
HP:0001251	Ataxia	23219	FBXO28	ORPHA:442835
HP:0001251	Ataxia	8831	SYNGAP1	ORPHA:442835
HP:0001251	Ataxia	8831	SYNGAP1	ORPHA:1942
HP:0001251	Ataxia	8831	SYNGAP1	ORPHA:544254
HP:0001251	Ataxia	2558	GABRA5	ORPHA:442835
HP:0001251	Ataxia	2906	GRIN2D	ORPHA:442835
HP:0001251	Ataxia	23334	SZT2	ORPHA:442835
HP:0001251	Ataxia	25977	NECAP1	ORPHA:442835
HP:0001251	Ataxia	23241	PACS2	ORPHA:442835
HP:0001251	Ataxia	16	AARS1	ORPHA:442835
HP:0001251	Ataxia	9568	GABBR2	ORPHA:442835
HP:0001251	Ataxia	9568	GABBR2	OMIM:617904
HP:0001251	Ataxia	2555	GABRA2	ORPHA:442835
HP:0001251	Ataxia	55152	DALRD3	ORPHA:442835
HP:0001251	Ataxia	26999	CYFIP2	ORPHA:442835
HP:0001251	Ataxia	4915	NTRK2	ORPHA:442835
HP:0001251	Ataxia	25973	PARS2	ORPHA:442835
HP:0001251	Ataxia	23097	CDK19	ORPHA:442835
HP:0001251	Ataxia	2257	FGF12	ORPHA:442835
HP:0001251	Ataxia	2257	FGF12	OMIM:617166
HP:0001251	Ataxia	5530	PPP3CA	ORPHA:442835
HP:0001251	Ataxia	22906	TRAK1	ORPHA:442835
HP:0001251	Ataxia	2566	GABRG2	ORPHA:442835
HP:0001251	Ataxia	2566	GABRG2	ORPHA:36387
HP:0001251	Ataxia	79876	UBA5	ORPHA:442835
HP:0001251	Ataxia	6328	SCN3A	ORPHA:442835
HP:0001251	Ataxia	781	CACNA2D1	ORPHA:442835
HP:0001251	Ataxia	10659	CELF2	ORPHA:442835
HP:0001251	Ataxia	774	CACNA1B	ORPHA:442835
HP:0001251	Ataxia	51412	ACTL6B	ORPHA:442835
HP:0001251	Ataxia	2290	FOXG1	ORPHA:442835
HP:0001251	Ataxia	6506	SLC1A2	ORPHA:442835
HP:0001251	Ataxia	8867	SYNJ1	ORPHA:442835
HP:0001251	Ataxia	3745	KCNB1	ORPHA:442835
HP:0001251	Ataxia	22866	CNKSR2	ORPHA:442835
HP:0001251	Ataxia	284439	SLC25A42	OMIM:618416
HP:0001251	Ataxia	79600	TCTN1	ORPHA:475
HP:0001251	Ataxia	51684	SUFU	ORPHA:475
HP:0001251	Ataxia	51684	SUFU	ORPHA:2495
HP:0001251	Ataxia	51684	SUFU	OMIM:617757
HP:0001251	Ataxia	200894	ARL13B	ORPHA:475
HP:0001251	Ataxia	200894	ARL13B	OMIM:612291
HP:0001251	Ataxia	219844	HYLS1	ORPHA:475
HP:0001251	Ataxia	23247	KATNIP	ORPHA:475
HP:0001251	Ataxia	219854	TMEM218	ORPHA:475
HP:0001251	Ataxia	9786	KIAA0586	ORPHA:475
HP:0001251	Ataxia	79867	TCTN2	ORPHA:475
HP:0001251	Ataxia	79867	TCTN2	OMIM:616654
HP:0001251	Ataxia	80776	B9D2	ORPHA:475
HP:0001251	Ataxia	10464	PIBF1	ORPHA:475
HP:0001251	Ataxia	10464	PIBF1	OMIM:617767
HP:0001251	Ataxia	80210	ARMC9	ORPHA:475
HP:0001251	Ataxia	23116	TOGARAM1	ORPHA:475
HP:0001251	Ataxia	25776	CBY1	ORPHA:475
HP:0001251	Ataxia	27077	B9D1	ORPHA:475
HP:0001251	Ataxia	27077	B9D1	OMIM:617120
HP:0001251	Ataxia	84879	MFSD2A	OMIM:616486
HP:0001251	Ataxia	8879	SGPL1	OMIM:617575
HP:0001251	Ataxia	51604	PIGT	OMIM:615398
HP:0001251	Ataxia	27089	UQCRQ	OMIM:615159
HP:0001251	Ataxia	54902	TTC19	OMIM:615157
HP:0001251	Ataxia	1660	DHX9	OMIM:620988
HP:0001251	Ataxia	57282	SLC4A10	OMIM:620746
HP:0001251	Ataxia	7701	ZNF142	OMIM:618425
HP:0001251	Ataxia	8021	NUP214	OMIM:618426
HP:0001251	Ataxia	285362	SUMF1	OMIM:272200
HP:0001251	Ataxia	5551	PRF1	OMIM:603553
HP:0001251	Ataxia	26137	ZBTB20	OMIM:259050
HP:0001251	Ataxia	51633	OTUD6B	ORPHA:505237
HP:0001251	Ataxia	9533	POLR1C	OMIM:616494
HP:0001251	Ataxia	9533	POLR1C	ORPHA:88637
HP:0001251	Ataxia	79991	STN1	OMIM:617341
HP:0001251	Ataxia	9474	ATG5	OMIM:617584
HP:0001251	Ataxia	6942	TCF20	OMIM:618430
HP:0001251	Ataxia	22	ABCB7	ORPHA:2802
HP:0001251	Ataxia	22	ABCB7	OMIM:301310
HP:0001251	Ataxia	1356	CP	ORPHA:48818
HP:0001251	Ataxia	1356	CP	OMIM:604290
HP:0001251	Ataxia	256471	MFSD8	OMIM:610951
HP:0001251	Ataxia	11261	CHP1	OMIM:618438
HP:0001251	Ataxia	2729	GCLC	ORPHA:33574
HP:0001251	Ataxia	51651	PTRH2	OMIM:616263
HP:0001251	Ataxia	51651	PTRH2	ORPHA:456312
HP:0001251	Ataxia	23162	MAPK8IP3	OMIM:618443
HP:0001251	Ataxia	2562	GABRB3	OMIM:617113
HP:0001251	Ataxia	84833	ATP5MK	OMIM:618683
HP:0001251	Ataxia	84833	ATP5MK	ORPHA:254913
HP:0001251	Ataxia	9725	TMEM63A	OMIM:618688
HP:0001251	Ataxia	29929	ALG6	ORPHA:79320
HP:0001251	Ataxia	29929	ALG6	OMIM:603147
HP:0001251	Ataxia	1173	AP2M1	ORPHA:1942
HP:0001251	Ataxia	1106	CHD2	ORPHA:1942
HP:0001251	Ataxia	6529	SLC6A1	ORPHA:1942
HP:0001251	Ataxia	6529	SLC6A1	OMIM:616421
HP:0001251	Ataxia	79053	ALG8	ORPHA:79325
HP:0001251	Ataxia	29893	PSMC3IP	ORPHA:243
HP:0001251	Ataxia	171568	POLR3H	ORPHA:243
HP:0001251	Ataxia	2516	NR5A1	ORPHA:243
HP:0001251	Ataxia	125150	ZSWIM7	ORPHA:243
HP:0001251	Ataxia	9210	BMP15	ORPHA:243
HP:0001251	Ataxia	57122	NUP107	ORPHA:243
HP:0001251	Ataxia	23514	SPIDR	ORPHA:243
HP:0001251	Ataxia	2492	FSHR	ORPHA:243
HP:0001251	Ataxia	56945	MRPS22	ORPHA:243
HP:0001251	Ataxia	646	BNC1	ORPHA:243
HP:0001251	Ataxia	4438	MSH4	ORPHA:243
HP:0001251	Ataxia	3730	ANOS1	OMIM:308700
HP:0001251	Ataxia	3730	ANOS1	ORPHA:478
HP:0001251	Ataxia	6812	STXBP1	ORPHA:599373
HP:0001251	Ataxia	4509	MT-ATP8	ORPHA:480
HP:0001251	Ataxia	4509	MT-ATP8	ORPHA:254913
HP:0001251	Ataxia	81570	CLPB	OMIM:616271
HP:0001251	Ataxia	51117	COQ4	OMIM:616276
HP:0001251	Ataxia	133686	NADK2	OMIM:616034
HP:0001251	Ataxia	6709	SPTAN1	OMIM:620538
HP:0001251	Ataxia	6709	SPTAN1	OMIM:620540
HP:0001251	Ataxia	6857	SYT1	OMIM:618218
HP:0001251	Ataxia	6857	SYT1	ORPHA:522077
HP:0001251	Ataxia	5277	PIGA	OMIM:301072
HP:0001251	Ataxia	78987	CRELD1	OMIM:620771
HP:0001251	Ataxia	8803	SUCLA2	ORPHA:1933
HP:0001251	Ataxia	7080	NKX2-1	OMIM:610978
HP:0001251	Ataxia	7080	NKX2-1	ORPHA:209905
HP:0001251	Ataxia	2260	FGFR1	ORPHA:478
HP:0001251	Ataxia	10371	SEMA3A	ORPHA:478
HP:0001251	Ataxia	81848	SPRY4	ORPHA:478
HP:0001251	Ataxia	23767	FLRT3	ORPHA:478
HP:0001251	Ataxia	128674	PROKR2	ORPHA:478
HP:0001251	Ataxia	79625	NDNF	ORPHA:478
HP:0001251	Ataxia	2253	FGF8	ORPHA:478
HP:0001251	Ataxia	389549	FEZF1	ORPHA:478
HP:0001251	Ataxia	1630	DCC	ORPHA:478
HP:0001251	Ataxia	54756	IL17RD	ORPHA:478
HP:0001251	Ataxia	285025	CCDC141	ORPHA:478
HP:0001251	Ataxia	60675	PROK2	ORPHA:478
HP:0001251	Ataxia	55636	CHD7	ORPHA:478
HP:0001251	Ataxia	1848	DUSP6	ORPHA:478
HP:0001251	Ataxia	6870	TACR3	ORPHA:478
HP:0001251	Ataxia	55717	WDR11	ORPHA:478
HP:0001251	Ataxia	9394	HS6ST1	ORPHA:478
HP:0001251	Ataxia	8820	HESX1	ORPHA:478
HP:0001251	Ataxia	8822	FGF17	ORPHA:478
HP:0001251	Ataxia	23013	SPEN	OMIM:619312
HP:0001251	Ataxia	30000	TNPO2	OMIM:619556
HP:0001251	Ataxia	23345	SYNE1	ORPHA:88644
HP:0001251	Ataxia	51728	POLR3K	OMIM:619310
HP:0001251	Ataxia	79903	NAA60	OMIM:620786
HP:0001251	Ataxia	11267	SNF8	OMIM:620784
HP:0001251	Ataxia	9256	TSPOAP1	ORPHA:101150
HP:0001251	Ataxia	7054	TH	ORPHA:101150
HP:0001251	Ataxia	84320	ACBD6	OMIM:620785
HP:0001251	Ataxia	10102	TSFM	OMIM:610505
HP:0001251	Ataxia	6548	SLC9A1	OMIM:616291
HP:0001251	Ataxia	2581	GALC	ORPHA:206443
HP:0001251	Ataxia	2581	GALC	ORPHA:206448
HP:0001251	Ataxia	440193	CCDC88C	OMIM:616053
HP:0001251	Ataxia	1436	CSF1R	OMIM:618476
HP:0001251	Ataxia	9342	SNAP29	ORPHA:66631
HP:0001251	Ataxia	23030	KDM4B	OMIM:619320
HP:0001251	Ataxia	8878	SQSTM1	OMIM:617145
HP:0001251	Ataxia	7453	WARS1	OMIM:620317
HP:0001251	Ataxia	137682	NDUFAF6	OMIM:618239
HP:0001251	Ataxia	9179	AP4M1	OMIM:612936
HP:0001251	Ataxia	79944	L2HGDH	OMIM:236792
HP:0001251	Ataxia	6904	TBCD	ORPHA:496641
HP:0001251	Ataxia	6904	TBCD	OMIM:617193
HP:0001251	Ataxia	10059	DNM1L	ORPHA:98673
HP:0001251	Ataxia	25929	GEMIN5	OMIM:619333
HP:0001251	Ataxia	28982	FLVCR1	ORPHA:88628
HP:0001251	Ataxia	28982	FLVCR1	OMIM:609033
HP:0001251	Ataxia	56915	EXOSC5	OMIM:619576
HP:0001251	Ataxia	2560	GABRB1	OMIM:617153
HP:0001251	Ataxia	79641	ROGDI	OMIM:226750
HP:0001251	Ataxia	29920	PYCR2	ORPHA:481152
HP:0001251	Ataxia	23203	PMPCA	OMIM:213200
HP:0001251	Ataxia	23203	PMPCA	ORPHA:1170
HP:0001251	Ataxia	4864	NPC1	OMIM:257220
HP:0001251	Ataxia	6898	TAT	ORPHA:28378
HP:0001251	Ataxia	2898	GRIK2	OMIM:619580
HP:0001251	Ataxia	10483	SEC23B	ORPHA:201
HP:0001251	Ataxia	6391	SDHC	ORPHA:201
HP:0001251	Ataxia	207	AKT1	ORPHA:201
HP:0001251	Ataxia	207	AKT1	ORPHA:2495
HP:0001251	Ataxia	205717	USF3	ORPHA:201
HP:0001251	Ataxia	5290	PIK3CA	ORPHA:201
HP:0001251	Ataxia	5290	PIK3CA	ORPHA:2495
HP:0001251	Ataxia	100144748	KLLN	ORPHA:201
HP:0001251	Ataxia	6712	SPTBN2	OMIM:600224
HP:0001251	Ataxia	372	ARCN1	OMIM:617164
HP:0001251	Ataxia	8635	RNASET2	OMIM:612951
HP:0001251	Ataxia	1200	TPP1	OMIM:609270
HP:0001251	Ataxia	1200	TPP1	OMIM:204500
HP:0001251	Ataxia	6697	SPR	OMIM:612716
HP:0001251	Ataxia	51095	TRNT1	OMIM:616084
HP:0001251	Ataxia	35	ACADS	OMIM:201470
HP:0001251	Ataxia	4983	OPHN1	ORPHA:137831
HP:0001251	Ataxia	29926	GMPPA	ORPHA:869
HP:0001251	Ataxia	29926	GMPPA	OMIM:615510
HP:0001251	Ataxia	55210	ATAD3A	OMIM:617183
HP:0001251	Ataxia	128240	NAXE	OMIM:617186
HP:0001251	Ataxia	440138	ALG11	ORPHA:280071
HP:0001251	Ataxia	23287	AGTPBP1	OMIM:618276
HP:0001251	Ataxia	23287	AGTPBP1	ORPHA:2254
HP:0001251	Ataxia	57704	GBA2	ORPHA:320391
HP:0001251	Ataxia	23636	NUP62	ORPHA:225154
HP:0001251	Ataxia	103	ADAR	ORPHA:225154
HP:0001251	Ataxia	6571	SLC18A2	OMIM:618049
HP:0001251	Ataxia	6571	SLC18A2	ORPHA:352649
HP:0001251	Ataxia	5528	PPP2R5D	ORPHA:457279
HP:0001251	Ataxia	10295	BCKDK	OMIM:614923
HP:0001251	Ataxia	1719	DHFR	OMIM:613839
HP:0001251	Ataxia	55074	OXR1	OMIM:213000
HP:0001251	Ataxia	79644	SRD5A3	ORPHA:324737
HP:0001251	Ataxia	80704	SLC19A3	ORPHA:263410
HP:0001251	Ataxia	27072	VPS41	OMIM:619389
HP:0001251	Ataxia	267	AMFR	OMIM:620379
HP:0001251	Ataxia	8996	NOL3	OMIM:614937
HP:0001251	Ataxia	26275	HIBCH	OMIM:250620
HP:0001251	Ataxia	4613	MYCN	ORPHA:635
HP:0001251	Ataxia	238	ALK	ORPHA:635
HP:0001251	Ataxia	389421	LIN28B	ORPHA:635
HP:0001251	Ataxia	4004	LMO1	ORPHA:635
HP:0001251	Ataxia	8929	PHOX2B	ORPHA:635
HP:0001251	Ataxia	27183	VPS4A	OMIM:619273
HP:0001251	Ataxia	10128	LRPPRC	OMIM:220111
HP:0001251	Ataxia	10128	LRPPRC	ORPHA:70472
HP:0001251	Ataxia	91574	MTRFR	ORPHA:254930
HP:0001251	Ataxia	91574	MTRFR	OMIM:613559
HP:0001251	Ataxia	146227	BEAN1	OMIM:117210
HP:0001251	Ataxia	4570	MT-TN	OMIM:220110
HP:0001251	Ataxia	400916	CHCHD10	OMIM:615911
HP:0001251	Ataxia	2299	FOXI1	ORPHA:705
HP:0001251	Ataxia	5172	SLC26A4	ORPHA:705
HP:0001251	Ataxia	5111	PCNA	OMIM:615919
HP:0001251	Ataxia	57176	VARS2	OMIM:615917
HP:0001251	Ataxia	9690	UBE3C	OMIM:620270
HP:0001251	Ataxia	51218	GLRX5	ORPHA:401866
HP:0001251	Ataxia	10479	SLC9A6	OMIM:300243
HP:0001251	Ataxia	1352	COX10	OMIM:619046
HP:0001251	Ataxia	3736	KCNA1	ORPHA:972
HP:0001251	Ataxia	514	ATP5F1E	ORPHA:254913
HP:0001251	Ataxia	513	ATP5F1D	ORPHA:254913
HP:0001251	Ataxia	498	ATP5F1A	ORPHA:254913
HP:0001251	Ataxia	91647	ATPAF2	ORPHA:254913
HP:0001251	Ataxia	116228	COX20	OMIM:619054
HP:0001251	Ataxia	1757	SARDH	ORPHA:3129
HP:0001251	Ataxia	686	BTD	OMIM:253260
HP:0001251	Ataxia	686	BTD	ORPHA:79241
HP:0001251	Ataxia	10015	PDCD6IP	OMIM:620047
HP:0001251	Ataxia	3117	HLA-DQA1	OMIM:212750
HP:0001251	Ataxia	3119	HLA-DQB1	OMIM:212750
HP:0001251	Ataxia	7276	TTR	OMIM:105210
HP:0001251	Ataxia	259232	NALCN	ORPHA:562528
HP:0001251	Ataxia	4697	NDUFA4	OMIM:619065
HP:0001251	Ataxia	23461	ABCA5	ORPHA:2026
HP:0001251	Ataxia	26090	ABHD12	OMIM:612674
HP:0001251	Ataxia	1600	DAB1	OMIM:615945
HP:0001251	Ataxia	55157	DARS2	OMIM:611105
HP:0001251	Ataxia	10382	TUBB4A	OMIM:612438
HP:0001251	Ataxia	112476	PRRT2	ORPHA:98811
HP:0001251	Ataxia	112476	PRRT2	ORPHA:36387
HP:0001251	Ataxia	5230	PGK1	ORPHA:713
HP:0001251	Ataxia	5230	PGK1	OMIM:300653
HP:0001251	Ataxia	9711	RUBCN	OMIM:615705
HP:0001251	Ataxia	6335	SCN9A	ORPHA:36387
HP:0001251	Ataxia	112755	STX1B	ORPHA:36387
HP:0001251	Ataxia	2563	GABRD	ORPHA:36387
HP:0001251	Ataxia	6326	SCN2A	ORPHA:36387
HP:0001251	Ataxia	6324	SCN1B	ORPHA:36387
HP:0001251	Ataxia	2258	FGF13	ORPHA:36387
HP:0001251	Ataxia	84059	ADGRV1	ORPHA:36387
HP:0001251	Ataxia	84059	ADGRV1	ORPHA:231178
HP:0001251	Ataxia	6804	STX1A	ORPHA:904
HP:0001251	Ataxia	7461	CLIP2	ORPHA:904
HP:0001251	Ataxia	8468	FKBP6	ORPHA:904
HP:0001251	Ataxia	5982	RFC2	ORPHA:904
HP:0001251	Ataxia	2969	GTF2I	ORPHA:904
HP:0001251	Ataxia	3984	LIMK1	ORPHA:904
HP:0001251	Ataxia	9569	GTF2IRD1	ORPHA:904
HP:0001251	Ataxia	155382	VPS37D	ORPHA:904
HP:0001251	Ataxia	155368	METTL27	ORPHA:904
HP:0001251	Ataxia	114049	BUD23	ORPHA:904
HP:0001251	Ataxia	7458	EIF4H	ORPHA:904
HP:0001251	Ataxia	84163	GTF2IRD2	ORPHA:904
HP:0001251	Ataxia	26608	TBL2	ORPHA:904
HP:0001251	Ataxia	653361	NCF1	ORPHA:904
HP:0001251	Ataxia	135886	TMEM270	ORPHA:904
HP:0001251	Ataxia	9031	BAZ1B	ORPHA:904
HP:0001251	Ataxia	2006	ELN	ORPHA:904
HP:0001251	Ataxia	11340	EXOSC8	ORPHA:2254
HP:0001251	Ataxia	5393	EXOSC9	ORPHA:2254
HP:0001251	Ataxia	51010	EXOSC3	ORPHA:2254
HP:0001251	Ataxia	7443	VRK1	ORPHA:2254
HP:0001251	Ataxia	7443	VRK1	OMIM:607596
HP:0001251	Ataxia	2073	ERCC5	OMIM:278780
HP:0001251	Ataxia	2073	ERCC5	ORPHA:910
HP:0001251	Ataxia	2073	ERCC5	ORPHA:220295
HP:0001251	Ataxia	8314	BAP1	ORPHA:2495
HP:0001251	Ataxia	4771	NF2	ORPHA:2495
HP:0001251	Ataxia	4771	NF2	OMIM:101000
HP:0001251	Ataxia	6598	SMARCB1	ORPHA:2495
HP:0001251	Ataxia	6598	SMARCB1	ORPHA:99966
HP:0001251	Ataxia	5155	PDGFB	ORPHA:2495
HP:0001251	Ataxia	84231	TRAF7	ORPHA:2495
HP:0001251	Ataxia	6608	SMO	ORPHA:2495
HP:0001251	Ataxia	6605	SMARCE1	ORPHA:2495
HP:0001251	Ataxia	60481	ELOVL5	OMIM:615957
HP:0001251	Ataxia	2521	FUS	ORPHA:300605
HP:0001251	Ataxia	10280	SIGMAR1	ORPHA:300605
HP:0001251	Ataxia	10558	SPTLC1	ORPHA:300605
HP:0001251	Ataxia	4089	SMAD4	OMIM:139210
HP:0001251	Ataxia	255928	SYT14	ORPHA:284271
HP:0001251	Ataxia	255928	SYT14	OMIM:614229
HP:0001251	Ataxia	55691	FRMD4A	OMIM:616819
HP:0001251	Ataxia	3187	HNRNPH1	OMIM:620083
HP:0001251	Ataxia	2937	GSS	OMIM:266130
HP:0001251	Ataxia	4677	NARS1	OMIM:619092
HP:0001251	Ataxia	9147	NEMF	OMIM:619099
HP:0001251	Ataxia	26047	CNTNAP2	OMIM:610042
HP:0001251	Ataxia	26047	CNTNAP2	ORPHA:163681
HP:0001251	Ataxia	162417	NAGS	ORPHA:927
HP:0001251	Ataxia	1384	CRAT	OMIM:617917
HP:0001251	Ataxia	85021	REPS1	OMIM:617916
HP:0001251	Ataxia	51750	RTEL1	ORPHA:3322
HP:0001251	Ataxia	65057	ACD	ORPHA:3322
HP:0001251	Ataxia	84978	FRMD5	OMIM:620094
HP:0001251	Ataxia	80207	OPA3	OMIM:258501
HP:0001251	Ataxia	80207	OPA3	ORPHA:67036
HP:0001251	Ataxia	80207	OPA3	ORPHA:67047
HP:0001251	Ataxia	10664	CTCF	OMIM:615502
HP:0001251	Ataxia	2068	ERCC2	ORPHA:910
HP:0001251	Ataxia	2068	ERCC2	ORPHA:220295
HP:0001251	Ataxia	2068	ERCC2	OMIM:278730
HP:0001251	Ataxia	7507	XPA	ORPHA:910
HP:0001251	Ataxia	7507	XPA	OMIM:278700
HP:0001251	Ataxia	7508	XPC	ORPHA:910
HP:0001251	Ataxia	1643	DDB2	ORPHA:910
HP:0001251	Ataxia	92935	MARS2	OMIM:611390
HP:0001251	Ataxia	6683	SPAST	ORPHA:100985
HP:0001251	Ataxia	55187	VPS13D	OMIM:607317
HP:0001251	Ataxia	125988	MICOS13	ORPHA:67047
HP:0001251	Ataxia	23095	KIF1B	OMIM:256700
HP:0001251	Ataxia	56997	COQ8A	OMIM:612016
HP:0001251	Ataxia	6301	SARS1	OMIM:617709
HP:0001251	Ataxia	2592	GALT	ORPHA:79239
HP:0001251	Ataxia	4204	MECP2	OMIM:300055
HP:0001251	Ataxia	4204	MECP2	OMIM:300260
HP:0001251	Ataxia	6609	SMPD1	ORPHA:77293
HP:0001251	Ataxia	203068	TUBB	OMIM:615771
HP:0001251	Ataxia	11253	MAN1B1	OMIM:614202
HP:0001251	Ataxia	9512	PMPCB	OMIM:617954
HP:0001251	Ataxia	2058	EPRS1	OMIM:617951
HP:0001251	Ataxia	3141	HLCS	ORPHA:79242
HP:0001251	Ataxia	5160	PDHA1	ORPHA:79243
HP:0001251	Ataxia	128989	TANGO2	ORPHA:480864
HP:0001251	Ataxia	128989	TANGO2	OMIM:616878
HP:0001251	Ataxia	1641	DCX	OMIM:300067
HP:0001251	Ataxia	27010	TPK1	OMIM:614458
HP:0001251	Ataxia	7399	USH2A	ORPHA:231178
HP:0001251	Ataxia	79955	PDZD7	ORPHA:231178
HP:0001251	Ataxia	4647	MYO7A	ORPHA:231178
HP:0001251	Ataxia	4647	MYO7A	ORPHA:231169
HP:0001251	Ataxia	25861	WHRN	ORPHA:231178
HP:0001251	Ataxia	51501	HIKESHI	OMIM:616881
HP:0001251	Ataxia	2643	GCH1	ORPHA:98808
HP:0001251	Ataxia	4929	NR4A2	ORPHA:98808
HP:0001251	Ataxia	3615	IMPDH2	ORPHA:98808
HP:0001251	Ataxia	51002	TPRKB	OMIM:617731
HP:0001251	Ataxia	338	APOB	OMIM:615558
HP:0001251	Ataxia	22934	RPIA	OMIM:608611
HP:0001251	Ataxia	7040	TGFB1	ORPHA:1328
HP:0001251	Ataxia	5293	PIK3CD	ORPHA:221139
HP:0001251	Ataxia	90417	KNSTRN	ORPHA:221139
HP:0001251	Ataxia	6925	TCF4	ORPHA:2896
HP:0001251	Ataxia	26576	SRPK3	OMIM:301134
HP:0001251	Ataxia	23209	MLC1	OMIM:604004
HP:0001251	Ataxia	5162	PDHB	ORPHA:255138
HP:0001251	Ataxia	7222	TRPC3	OMIM:616410
HP:0001251	Ataxia	3295	HSD17B4	OMIM:233400
HP:0001251	Ataxia	7401	CLRN1	ORPHA:231183
HP:0001251	Ataxia	22901	ARSG	ORPHA:231183
HP:0001251	Ataxia	3035	HARS1	ORPHA:231183
HP:0001251	Ataxia	84131	CEP78	ORPHA:231183
HP:0001251	Ataxia	6591	SNAI2	ORPHA:2884
HP:0001251	Ataxia	3815	KIT	ORPHA:2884
HP:0001251	Ataxia	5538	PPT1	OMIM:256730
HP:0001251	Ataxia	1203	CLN5	OMIM:256731
HP:0001251	Ataxia	25974	MMACHC	ORPHA:79282
HP:0001251	Ataxia	64072	CDH23	ORPHA:231169
HP:0001251	Ataxia	10083	USH1C	ORPHA:231169
HP:0001251	Ataxia	124590	USH1G	ORPHA:231169
HP:0001251	Ataxia	83715	ESPN	ORPHA:231169
HP:0001251	Ataxia	10518	CIB2	ORPHA:231169
HP:0001251	Ataxia	65217	PCDH15	ORPHA:231169
HP:0001251	Ataxia	55753	OGDHL	OMIM:619701
HP:0001251	Ataxia	284217	LAMA1	ORPHA:370022
HP:0001251	Ataxia	5297	PI4KA	OMIM:619708
HP:0001251	Ataxia	10749	KIF1C	ORPHA:397946
HP:0001251	Ataxia	10749	KIF1C	OMIM:611302
HP:0001251	Ataxia	23646	PLD3	OMIM:617770
HP:0001251	Ataxia	4099	MAG	OMIM:616680
HP:0001251	Ataxia	4099	MAG	ORPHA:459056
HP:0001251	Ataxia	91452	ACBD5	OMIM:618863
HP:0001251	Ataxia	9853	RUSC2	OMIM:617773
HP:0001251	Ataxia	10159	ATP6AP2	ORPHA:93952
HP:0001251	Ataxia	55780	ERMARD	ORPHA:75857
HP:0001251	Ataxia	9289	ADGRG1	OMIM:606854
HP:0001251	Ataxia	9289	ADGRG1	ORPHA:98889
HP:0001251	Ataxia	5173	PDYN	OMIM:610245
HP:0001251	Ataxia	5173	PDYN	ORPHA:101108
HP:0001251	Ataxia	8560	DEGS1	OMIM:618404
HP:0001251	Ataxia	857	CAV1	OMIM:606721
HP:0001251	Ataxia	6687	SPG7	OMIM:607259
HP:0001251	Ataxia	80856	LNPK	OMIM:618090
HP:0001251	Ataxia	3475	IFRD1	ORPHA:98771
HP:0001251	Ataxia	55768	NGLY1	OMIM:615273
HP:0001251	Ataxia	9895	TECPR2	OMIM:615031
HP:0001251	Ataxia	9895	TECPR2	ORPHA:320385
HP:0001251	Ataxia	27286	SRPX2	ORPHA:98889
HP:0001251	Ataxia	23137	SMC5	OMIM:620185
HP:0001251	Ataxia	25814	ATXN10	ORPHA:98761
HP:0001251	Ataxia	25814	ATXN10	OMIM:603516
HP:0001251	Ataxia	8733	GPAA1	ORPHA:529665
HP:0001251	Ataxia	8733	GPAA1	OMIM:617810
HP:0001251	Ataxia	59336	PRDM13	OMIM:619761
HP:0001251	Ataxia	6310	ATXN1	ORPHA:98755
HP:0001251	Ataxia	6310	ATXN1	OMIM:164400
HP:0001251	Ataxia	55129	ANO10	ORPHA:284289
HP:0001251	Ataxia	55129	ANO10	OMIM:613728
HP:0001251	Ataxia	3980	LIG3	OMIM:619780
HP:0001251	Ataxia	23111	SPART	OMIM:275900
HP:0001251	Ataxia	3712	IVD	ORPHA:33
HP:0001251	Ataxia	10157	AASS	ORPHA:2203
HP:0001251	Ataxia	10166	SLC25A15	OMIM:238970
HP:0001251	Ataxia	5582	PRKCG	OMIM:605361
HP:0001251	Ataxia	54664	TMEM106B	OMIM:617964
HP:0001251	Ataxia	8884	SLC5A6	OMIM:619903
HP:0001251	Ataxia	8270	LAGE3	OMIM:301006
HP:0001251	Ataxia	6472	SHMT2	OMIM:619121
HP:0001251	Ataxia	54676	GTPBP2	OMIM:617988
HP:0001251	Ataxia	119559	SFXN4	OMIM:615578
HP:0001251	Ataxia	7515	XRCC1	OMIM:617633
HP:0001251	Ataxia	221927	BRAT1	OMIM:618056
HP:0001251	Ataxia	50640	PNPLA8	OMIM:251950
HP:0001251	Ataxia	8450	CUL4B	OMIM:300354
HP:0001251	Ataxia	158	ADSL	OMIM:103050
HP:0001251	Ataxia	27247	NFU1	OMIM:620938
HP:0001251	Ataxia	51126	NAA20	OMIM:619717
HP:0001251	Ataxia	5376	PMP22	OMIM:180800
HP:0001251	Ataxia	5376	PMP22	ORPHA:3115
HP:0001251	Ataxia	5376	PMP22	ORPHA:98916
HP:0001251	Ataxia	4359	MPZ	OMIM:180800
HP:0001251	Ataxia	4359	MPZ	ORPHA:3115
HP:0001251	Ataxia	5660	PSAP	OMIM:249900
HP:0001251	Ataxia	5660	PSAP	ORPHA:309256
HP:0001251	Ataxia	80232	WDR26	ORPHA:513456
HP:0001251	Ataxia	283489	CHAMP1	OMIM:616579
HP:0001251	Ataxia	5610	EIF2AK2	OMIM:618877
HP:0001251	Ataxia	24142	NAA80	OMIM:620830
HP:0001251	Ataxia	28960	DCPS	OMIM:616459
HP:0001251	Ataxia	7175	TPR	OMIM:620393
HP:0001251	Ataxia	146057	TTBK2	OMIM:604432
HP:0001251	Ataxia	57492	ARID1B	OMIM:135900
HP:0001251	Ataxia	5119	CHMP1A	OMIM:614961
HP:0001251	Ataxia	5832	ALDH18A1	OMIM:601162
HP:0001251	Ataxia	10935	PRDX3	OMIM:619862
HP:0001251	Ataxia	2903	GRIN2A	ORPHA:98818
HP:0001251	Ataxia	2259	FGF14	OMIM:620174
HP:0001251	Ataxia	2259	FGF14	ORPHA:98764
HP:0001251	Ataxia	2259	FGF14	OMIM:193003
HP:0001251	Ataxia	1938	EEF2	OMIM:609306
HP:0001251	Ataxia	5518	PPP2R1A	OMIM:616362
HP:0001251	Ataxia	3748	KCNC3	ORPHA:98768
HP:0001251	Ataxia	3748	KCNC3	OMIM:605259
HP:0001251	Ataxia	84919	PPP1R15B	OMIM:616817
HP:0001251	Ataxia	9922	IQSEC1	OMIM:618687
HP:0001251	Ataxia	55149	MTPAP	OMIM:613672
HP:0001251	Ataxia	404672	GTF2H5	ORPHA:33364
HP:0001251	Ataxia	833	CARS1	ORPHA:33364
HP:0001251	Ataxia	7737	RNF113A	ORPHA:33364
HP:0001251	Ataxia	7737	RNF113A	OMIM:300953
HP:0001251	Ataxia	136647	MPLKIP	ORPHA:33364
HP:0001251	Ataxia	6897	TARS1	ORPHA:33364
HP:0001251	Ataxia	2961	GTF2E2	ORPHA:33364
HP:0001251	Ataxia	6595	SMARCA2	OMIM:601358
HP:0001251	Ataxia	57716	PRX	OMIM:614895
HP:0001251	Ataxia	79628	SH3TC2	ORPHA:99949
HP:0001251	Ataxia	57410	SCYL1	OMIM:616719
HP:0001251	Ataxia	57410	SCYL1	ORPHA:466794
HP:0001251	Ataxia	9230	RAB11B	OMIM:617807
HP:0001251	Ataxia	8905	AP1S2	OMIM:304340
HP:0001251	Ataxia	54704	PDP1	OMIM:608782
HP:0001251	Ataxia	8925	HERC1	OMIM:617011
HP:0001251	Ataxia	8925	HERC1	ORPHA:457359
HP:0001251	Ataxia	57102	FERRY3	OMIM:618221
HP:0001251	Ataxia	10765	KDM5B	OMIM:618109
HP:0001251	Ataxia	6792	CDKL5	ORPHA:3095
HP:0001251	Ataxia	22854	NTNG1	ORPHA:3095
HP:0001251	Ataxia	8243	SMC1A	ORPHA:3095
HP:0001251	Ataxia	23102	TBC1D2B	OMIM:619323
HP:0001251	Ataxia	4081	MAB21L1	OMIM:618479
HP:0001251	Ataxia	25885	POLR1A	OMIM:620675
HP:0001251	Ataxia	2891	GRIA2	OMIM:618917
HP:0001251	Ataxia	5071	PRKN	OMIM:600116
HP:0001251	Ataxia	4261	CIITA	ORPHA:572
HP:0001251	Ataxia	5993	RFX5	ORPHA:572
HP:0001251	Ataxia	8625	RFXANK	ORPHA:572
HP:0001251	Ataxia	1181	CLCN2	OMIM:615651
HP:0001251	Ataxia	267010	RNU12	OMIM:620208
HP:0001251	Ataxia	267010	RNU12	ORPHA:512260
HP:0001251	Ataxia	54834	GDAP2	OMIM:618369
HP:0001251	Ataxia	361	AQP4	OMIM:620448
HP:0001251	Ataxia	54974	THG1L	OMIM:618800
HP:0001251	Ataxia	9675	TTI1	OMIM:620445
HP:0001251	Ataxia	20	ABCA2	OMIM:618808
HP:0001251	Ataxia	5611	DNAJC3	OMIM:616192
HP:0001251	Ataxia	5611	DNAJC3	ORPHA:445062
HP:0001251	Ataxia	23395	LARS2	OMIM:615300
HP:0001251	Ataxia	2065	ERBB3	OMIM:243180
HP:0001251	Ataxia	81790	RNF170	OMIM:608984
HP:0001251	Ataxia	9829	DNAJC6	ORPHA:391411
HP:0001251	Ataxia	5420	PODXL	ORPHA:391411
HP:0001251	Ataxia	5058	PAK1	OMIM:618158
HP:0001251	Ataxia	122553	TRAPPC6B	OMIM:617862
HP:0001251	Ataxia	7204	TRIO	ORPHA:476126
HP:0001251	Ataxia	10522	DEAF1	ORPHA:468620
HP:0001251	Ataxia	54888	NSUN2	OMIM:611091
HP:0001251	Ataxia	84823	LMNB2	OMIM:616540
HP:0001251	Ataxia	22943	DKK1	ORPHA:268882
HP:0001251	Ataxia	738	VPS51	OMIM:618606
HP:0001251	Ataxia	81615	TMEM163	OMIM:620243
HP:0001251	Ataxia	1795	DOCK3	OMIM:618292
HP:0001251	Ataxia	129285	PPP1R21	OMIM:619383
HP:0001251	Ataxia	1968	EIF2S3	OMIM:300148
HP:0001251	Ataxia	84842	HPDL	OMIM:619027
HP:0001251	Ataxia	2196	FAT2	OMIM:617769
HP:0001251	Ataxia	9897	WASHC5	ORPHA:100989
HP:0001251	Ataxia	9420	CYP7B1	ORPHA:100986
HP:0001251	Ataxia	1340	COX6B1	OMIM:619051
HP:0001251	Ataxia	51704	GPRC5B	OMIM:620447
HP:0001251	Ataxia	10715	CERS1	OMIM:616230
HP:0001251	Ataxia	7852	CXCR4	ORPHA:51636
HP:0001251	Ataxia	51271	UBAP1	OMIM:618418
HP:0001251	Ataxia	51271	UBAP1	ORPHA:100993
HP:0001251	Ataxia	58494	JAM2	OMIM:618824
HP:0001251	Ataxia	53335	BCL11A	OMIM:617101
HP:0001251	Ataxia	10463	SLC30A9	OMIM:617595
HP:0001251	Ataxia	6253	RTN2	ORPHA:100993
HP:0001251	Ataxia	1183	CLCN4	OMIM:300114
HP:0001251	Ataxia	1183	CLCN4	ORPHA:485350
HP:0001251	Ataxia	23446	SLC44A1	OMIM:618868
HP:0001251	Ataxia	7415	VCP	ORPHA:275872
HP:0001251	Ataxia	23435	TARDBP	ORPHA:275872
HP:0001251	Ataxia	29110	TBK1	ORPHA:275872
HP:0001251	Ataxia	154881	KCTD7	ORPHA:263516
HP:0001251	Ataxia	23545	ATP6V0A2	ORPHA:2834
HP:0001251	Ataxia	4556	MT-TE	ORPHA:2596
HP:0001251	Ataxia	463	ZFHX3	OMIM:600223
HP:0001251	Ataxia	2744	GLS	OMIM:618412
HP:0001251	Ataxia	8622	PDE8B	ORPHA:228169
HP:0001251	Ataxia	8622	PDE8B	OMIM:609161
HP:0001251	Ataxia	55532	SLC30A10	ORPHA:309854
HP:0001251	Ataxia	51324	SPG21	OMIM:248900
HP:0001251	Ataxia	2678	GGT1	OMIM:231950
HP:0001251	Ataxia	6575	SLC20A2	OMIM:213600
HP:0001251	Ataxia	5159	PDGFRB	OMIM:213600
HP:0001251	Ataxia	10466	COG5	ORPHA:263487
HP:0001251	Ataxia	10466	COG5	OMIM:613612
HP:0001251	Ataxia	51079	NDUFA13	OMIM:618249
HP:0001251	Ataxia	339983	NAT8L	OMIM:614063
HP:0001251	Ataxia	83475	DOHH	OMIM:620066
HP:0001251	Ataxia	22983	MAST1	OMIM:618273
HP:0001251	Ataxia	4784	NFIX	ORPHA:420179
HP:0001251	Ataxia	3785	KCNQ2	ORPHA:140927
HP:0001251	Ataxia	9091	PIGQ	ORPHA:1934
HP:0001251	Ataxia	140679	SLC32A1	ORPHA:1934
HP:0001251	Ataxia	2775	GNAO1	ORPHA:1934
HP:0001251	Ataxia	2902	GRIN1	ORPHA:1934
HP:0001251	Ataxia	79751	SLC25A22	ORPHA:1934
HP:0001251	Ataxia	150094	SIK1	ORPHA:1934
HP:0001251	Ataxia	8573	CASK	ORPHA:1934
HP:0001251	Ataxia	2917	GRM7	ORPHA:1934
HP:0001251	Ataxia	170302	ARX	ORPHA:1934
HP:0001251	Ataxia	51227	PIGP	ORPHA:1934
HP:0001251	Ataxia	4761	NEUROD2	ORPHA:1934
HP:0001251	Ataxia	4038	LRP4	OMIM:614305
HP:0001251	Ataxia	27249	MMADHC	OMIM:277410
HP:0001251	Ataxia	26115	TANC2	OMIM:618906
HP:0001251	Ataxia	2554	GABRA1	ORPHA:33069
HP:0001251	Ataxia	57526	PCDH19	ORPHA:33069
HP:0001251	Ataxia	4763	NF1	ORPHA:363700
HP:0001251	Ataxia	348	APOE	OMIM:607822
HP:0002515	Waddling gait	58	ACTA1	ORPHA:97240
HP:0002515	Waddling gait	58	ACTA1	ORPHA:97244
HP:0002515	Waddling gait	58	ACTA1	ORPHA:171436
HP:0002515	Waddling gait	58	ACTA1	OMIM:161800
HP:0002515	Waddling gait	58	ACTA1	ORPHA:171439
HP:0002515	Waddling gait	274	BIN1	ORPHA:169186
HP:0002515	Waddling gait	274	BIN1	OMIM:255200
HP:0002515	Waddling gait	10290	SPEG	ORPHA:169186
HP:0002515	Waddling gait	6261	RYR1	ORPHA:169186
HP:0002515	Waddling gait	7273	TTN	ORPHA:169186
HP:0002515	Waddling gait	7528	YY1	ORPHA:506358
HP:0002515	Waddling gait	7528	YY1	OMIM:617557
HP:0002515	Waddling gait	57190	SELENON	ORPHA:97244
HP:0002515	Waddling gait	54808	DYM	OMIM:607326
HP:0002515	Waddling gait	54808	DYM	OMIM:223800
HP:0002515	Waddling gait	91452	ACBD5	OMIM:618863
HP:0002515	Waddling gait	127833	SYT2	OMIM:616040
HP:0002515	Waddling gait	127833	SYT2	ORPHA:98914
HP:0002515	Waddling gait	1778	DYNC1H1	OMIM:158600
HP:0002515	Waddling gait	1778	DYNC1H1	OMIM:614563
HP:0002515	Waddling gait	8838	CCN6	OMIM:208230
HP:0002515	Waddling gait	8838	CCN6	ORPHA:1159
HP:0002515	Waddling gait	4593	MUSK	OMIM:616325
HP:0002515	Waddling gait	60684	TRAPPC11	OMIM:615356
HP:0002515	Waddling gait	60684	TRAPPC11	ORPHA:369840
HP:0002515	Waddling gait	6606	SMN1	OMIM:271150
HP:0002515	Waddling gait	1756	DMD	OMIM:310200
HP:0002515	Waddling gait	1756	DMD	ORPHA:98896
HP:0002515	Waddling gait	7109	TRAPPC10	OMIM:620027
HP:0002515	Waddling gait	7138	TNNT1	OMIM:620389
HP:0002515	Waddling gait	4703	NEB	OMIM:256030
HP:0002515	Waddling gait	4703	NEB	ORPHA:171436
HP:0002515	Waddling gait	4703	NEB	ORPHA:171439
HP:0002515	Waddling gait	59341	TRPV4	ORPHA:93314
HP:0002515	Waddling gait	59341	TRPV4	OMIM:184252
HP:0002515	Waddling gait	10049	DNAJB6	OMIM:603511
HP:0002515	Waddling gait	4000	LMNA	OMIM:181350
HP:0002515	Waddling gait	4000	LMNA	ORPHA:98855
HP:0002515	Waddling gait	4000	LMNA	ORPHA:98853
HP:0002515	Waddling gait	1120	CHKB	OMIM:602541
HP:0002515	Waddling gait	7169	TPM2	ORPHA:171436
HP:0002515	Waddling gait	7169	TPM2	OMIM:609285
HP:0002515	Waddling gait	7169	TPM2	ORPHA:171439
HP:0002515	Waddling gait	10324	KLHL41	ORPHA:171436
HP:0002515	Waddling gait	10324	KLHL41	ORPHA:171439
HP:0002515	Waddling gait	56203	LMOD3	ORPHA:171436
HP:0002515	Waddling gait	1073	CFL2	ORPHA:171436
HP:0002515	Waddling gait	1073	CFL2	OMIM:610687
HP:0002515	Waddling gait	1836	SLC26A2	ORPHA:93307
HP:0002515	Waddling gait	1311	COMP	ORPHA:93308
HP:0002515	Waddling gait	1311	COMP	OMIM:132400
HP:0002515	Waddling gait	1311	COMP	ORPHA:750
HP:0002515	Waddling gait	1311	COMP	OMIM:177170
HP:0002515	Waddling gait	55033	FKBP14	OMIM:614557
HP:0002515	Waddling gait	9200	HACD1	OMIM:619967
HP:0002515	Waddling gait	22954	TRIM32	ORPHA:1878
HP:0002515	Waddling gait	22954	TRIM32	OMIM:254110
HP:0002515	Waddling gait	54344	DPM3	OMIM:612937
HP:0002515	Waddling gait	79147	FKRP	OMIM:607155
HP:0002515	Waddling gait	79147	FKRP	ORPHA:34515
HP:0002515	Waddling gait	1297	COL9A1	ORPHA:166002
HP:0002515	Waddling gait	1298	COL9A2	ORPHA:166002
HP:0002515	Waddling gait	1298	COL9A2	OMIM:600204
HP:0002515	Waddling gait	1299	COL9A3	ORPHA:166002
HP:0002515	Waddling gait	3417	IDH1	ORPHA:99646
HP:0002515	Waddling gait	29925	GMPPB	ORPHA:353327
HP:0002515	Waddling gait	2673	GFPT1	ORPHA:353327
HP:0002515	Waddling gait	2673	GFPT1	OMIM:610542
HP:0002515	Waddling gait	1798	DPAGT1	ORPHA:353327
HP:0002515	Waddling gait	85365	ALG2	ORPHA:353327
HP:0002515	Waddling gait	85365	ALG2	OMIM:616228
HP:0002515	Waddling gait	199857	ALG14	ORPHA:353327
HP:0002515	Waddling gait	7125	TNNC2	OMIM:620161
HP:0002515	Waddling gait	64135	IFIH1	OMIM:182250
HP:0002515	Waddling gait	5251	PHEX	OMIM:307800
HP:0002515	Waddling gait	4148	MATN3	ORPHA:156728
HP:0002515	Waddling gait	4148	MATN3	OMIM:608728
HP:0002515	Waddling gait	1300	COL10A1	ORPHA:174
HP:0002515	Waddling gait	1300	COL10A1	OMIM:156500
HP:0002515	Waddling gait	2273	FHL1	OMIM:300695
HP:0002515	Waddling gait	2273	FHL1	OMIM:300280
HP:0002515	Waddling gait	2273	FHL1	ORPHA:98863
HP:0002515	Waddling gait	9469	CHST3	ORPHA:263463
HP:0002515	Waddling gait	9469	CHST3	OMIM:143095
HP:0002515	Waddling gait	1280	COL2A1	OMIM:616583
HP:0002515	Waddling gait	1280	COL2A1	OMIM:609162
HP:0002515	Waddling gait	1280	COL2A1	ORPHA:94068
HP:0002515	Waddling gait	1280	COL2A1	OMIM:183900
HP:0002515	Waddling gait	1280	COL2A1	OMIM:184255
HP:0002515	Waddling gait	7040	TGFB1	OMIM:131300
HP:0002515	Waddling gait	7040	TGFB1	ORPHA:1328
HP:0002515	Waddling gait	9581	PREPL	OMIM:616224
HP:0002515	Waddling gait	9675	TTI1	OMIM:620445
HP:0002515	Waddling gait	4625	MYH7	OMIM:608358
HP:0002515	Waddling gait	2010	EMD	OMIM:310300
HP:0002515	Waddling gait	2010	EMD	ORPHA:98863
HP:0002515	Waddling gait	176	ACAN	OMIM:165800
HP:0002515	Waddling gait	25778	DSTYK	ORPHA:101003
HP:0002515	Waddling gait	9217	VAPB	ORPHA:209335
HP:0002515	Waddling gait	9241	NOG	OMIM:186500
HP:0002515	Waddling gait	4620	MYH2	OMIM:605637
HP:0002515	Waddling gait	112812	FDX2	OMIM:251900
HP:0002515	Waddling gait	57531	HACE1	ORPHA:464282
HP:0002515	Waddling gait	57531	HACE1	OMIM:616756
HP:0002515	Waddling gait	6687	SPG7	OMIM:607259
HP:0002515	Waddling gait	1605	DAG1	ORPHA:280333
HP:0002515	Waddling gait	633	BGN	OMIM:300106
HP:0002515	Waddling gait	4041	LRP5	ORPHA:2788
HP:0002515	Waddling gait	57449	PLEKHG5	OMIM:611067
HP:0002515	Waddling gait	3908	LAMA2	OMIM:618138
HP:0002515	Waddling gait	121512	FGD4	OMIM:609311
HP:0002515	Waddling gait	8425	LTBP4	ORPHA:98896
HP:0002515	Waddling gait	2335	FN1	OMIM:184255
HP:0002515	Waddling gait	6445	SGCG	ORPHA:353
HP:0002515	Waddling gait	4322	MMP13	OMIM:602111
HP:0002515	Waddling gait	4322	MMP13	OMIM:250400
HP:0002515	Waddling gait	23299	BICD2	ORPHA:363454
HP:0002515	Waddling gait	23299	BICD2	OMIM:615290
HP:0002515	Waddling gait	10717	AP4B1	OMIM:614066
HP:0002515	Waddling gait	10717	AP4B1	ORPHA:280763
HP:0002515	Waddling gait	388662	SLC6A17	ORPHA:457212
HP:0002515	Waddling gait	388662	SLC6A17	OMIM:616269
HP:0002515	Waddling gait	203859	ANO5	ORPHA:399096
HP:0002515	Waddling gait	23126	POGZ	OMIM:616364
HP:0002515	Waddling gait	2588	GALNS	OMIM:253000
HP:0002515	Waddling gait	55325	UFSP2	OMIM:617974
HP:0002515	Waddling gait	84665	MYPN	OMIM:617336
HP:0002515	Waddling gait	84665	MYPN	ORPHA:171439
HP:0002515	Waddling gait	4744	NEFH	OMIM:616924
HP:0002515	Waddling gait	6442	SGCA	ORPHA:62
HP:0002515	Waddling gait	8720	MBTPS1	OMIM:618392
HP:0002515	Waddling gait	10585	POMT1	ORPHA:86812
HP:0002515	Waddling gait	60482	SLC5A7	ORPHA:98914
HP:0002515	Waddling gait	4649	MYO9A	ORPHA:98914
HP:0002515	Waddling gait	1305	COL13A1	ORPHA:98914
HP:0002515	Waddling gait	1103	CHAT	ORPHA:98914
HP:0002515	Waddling gait	6576	SLC25A1	ORPHA:98914
HP:0002515	Waddling gait	6843	VAMP1	ORPHA:98914
HP:0002515	Waddling gait	375790	AGRN	ORPHA:98914
HP:0002515	Waddling gait	6572	SLC18A3	ORPHA:98914
HP:0002515	Waddling gait	6616	SNAP25	ORPHA:98914
HP:0002515	Waddling gait	8292	COLQ	ORPHA:98915
HP:0002515	Waddling gait	3913	LAMB2	ORPHA:98915
HP:0002515	Waddling gait	50485	SMARCAL1	OMIM:242900
HP:0002515	Waddling gait	10522	DEAF1	ORPHA:468620
HP:0002515	Waddling gait	6329	SCN4A	OMIM:620351
HP:0002515	Waddling gait	6329	SCN4A	OMIM:620369
HP:0002515	Waddling gait	1303	COL12A1	ORPHA:610
HP:0002515	Waddling gait	1291	COL6A1	ORPHA:610
HP:0002515	Waddling gait	1292	COL6A2	ORPHA:610
HP:0002515	Waddling gait	1293	COL6A3	ORPHA:610
HP:0002515	Waddling gait	124583	CANT1	OMIM:251450
HP:0002515	Waddling gait	3178	HNRNPA1	ORPHA:52430
HP:0002515	Waddling gait	7415	VCP	ORPHA:52430
HP:0002515	Waddling gait	3181	HNRNPA2B1	ORPHA:52430
HP:0002515	Waddling gait	9179	AP4M1	ORPHA:280763
HP:0002515	Waddling gait	11154	AP4S1	ORPHA:280763
HP:0002515	Waddling gait	23431	AP4E1	ORPHA:280763
HP:0002515	Waddling gait	22880	MORC2	OMIM:619090
HP:0002515	Waddling gait	427	ASAH1	ORPHA:2590
HP:0002515	Waddling gait	5745	PTH1R	OMIM:156400
HP:0002515	Waddling gait	142680	SLC34A3	ORPHA:157215
HP:0002515	Waddling gait	6569	SLC34A1	ORPHA:157215
HP:0002515	Waddling gait	249	ALPL	OMIM:241510
HP:0002515	Waddling gait	390594	KBTBD13	ORPHA:171439
HP:0002515	Waddling gait	7170	TPM3	ORPHA:171439
HP:0002515	Waddling gait	2318	FLNC	OMIM:609524
HP:0002515	Waddling gait	3339	HSPG2	OMIM:255800
HP:0002515	Waddling gait	4747	NEFL	OMIM:617882
HP:0002515	Waddling gait	51776	MAP3K20	OMIM:617760
HP:0002515	Waddling gait	91252	SLC39A13	OMIM:612350
HP:0002515	Waddling gait	6443	SGCB	ORPHA:119
HP:0002515	Waddling gait	25886	POC1A	OMIM:614813
HP:0002515	Waddling gait	285489	DOK7	OMIM:254300
HP:0002515	Waddling gait	79188	TMEM43	ORPHA:98853
HP:0002515	Waddling gait	23345	SYNE1	ORPHA:98853
HP:0002515	Waddling gait	23224	SYNE2	ORPHA:98853
HP:0002516	Increased intracranial pressure	7291	TWIST1	ORPHA:794
HP:0002516	Increased intracranial pressure	7291	TWIST1	ORPHA:35093
HP:0002516	Increased intracranial pressure	7291	TWIST1	ORPHA:35099
HP:0002516	Increased intracranial pressure	2263	FGFR2	ORPHA:794
HP:0002516	Increased intracranial pressure	2263	FGFR2	ORPHA:93260
HP:0002516	Increased intracranial pressure	2263	FGFR2	ORPHA:207
HP:0002516	Increased intracranial pressure	2263	FGFR2	ORPHA:93259
HP:0002516	Increased intracranial pressure	2261	FGFR3	ORPHA:794
HP:0002516	Increased intracranial pressure	2261	FGFR3	ORPHA:53271
HP:0002516	Increased intracranial pressure	2261	FGFR3	ORPHA:93262
HP:0002516	Increased intracranial pressure	2261	FGFR3	ORPHA:35099
HP:0002516	Increased intracranial pressure	50964	SOST	OMIM:269500
HP:0002516	Increased intracranial pressure	50964	SOST	OMIM:122860
HP:0002516	Increased intracranial pressure	26160	IFT172	OMIM:619471
HP:0002516	Increased intracranial pressure	2077	ERF	OMIM:600775
HP:0002516	Increased intracranial pressure	2077	ERF	ORPHA:207
HP:0002516	Increased intracranial pressure	2077	ERF	ORPHA:35093
HP:0002516	Increased intracranial pressure	4041	LRP5	ORPHA:178377
HP:0002516	Increased intracranial pressure	114548	NLRP3	OMIM:191900
HP:0002516	Increased intracranial pressure	114548	NLRP3	ORPHA:1451
HP:0002516	Increased intracranial pressure	2584	GALK1	OMIM:230200
HP:0002516	Increased intracranial pressure	324	APC	ORPHA:99818
HP:0002516	Increased intracranial pressure	8314	BAP1	ORPHA:2495
HP:0002516	Increased intracranial pressure	4771	NF2	ORPHA:2495
HP:0002516	Increased intracranial pressure	6598	SMARCB1	ORPHA:2495
HP:0002516	Increased intracranial pressure	5155	PDGFB	ORPHA:2495
HP:0002516	Increased intracranial pressure	84231	TRAF7	ORPHA:2495
HP:0002516	Increased intracranial pressure	6608	SMO	ORPHA:2495
HP:0002516	Increased intracranial pressure	207	AKT1	ORPHA:2495
HP:0002516	Increased intracranial pressure	207	AKT1	ORPHA:201
HP:0002516	Increased intracranial pressure	5290	PIK3CA	ORPHA:2495
HP:0002516	Increased intracranial pressure	5290	PIK3CA	ORPHA:144
HP:0002516	Increased intracranial pressure	5290	PIK3CA	ORPHA:221061
HP:0002516	Increased intracranial pressure	5290	PIK3CA	ORPHA:201
HP:0002516	Increased intracranial pressure	7015	TERT	ORPHA:2495
HP:0002516	Increased intracranial pressure	51684	SUFU	ORPHA:2495
HP:0002516	Increased intracranial pressure	6605	SMARCE1	ORPHA:2495
HP:0002516	Increased intracranial pressure	6660	SOX5	ORPHA:626
HP:0002516	Increased intracranial pressure	238	ALK	ORPHA:626
HP:0002516	Increased intracranial pressure	9839	ZEB2	ORPHA:626
HP:0002516	Increased intracranial pressure	4893	NRAS	ORPHA:626
HP:0002516	Increased intracranial pressure	673	BRAF	ORPHA:626
HP:0002516	Increased intracranial pressure	673	BRAF	ORPHA:54595
HP:0002516	Increased intracranial pressure	5894	RAF1	ORPHA:626
HP:0002516	Increased intracranial pressure	2767	GNA11	ORPHA:428
HP:0002516	Increased intracranial pressure	846	CASR	ORPHA:428
HP:0002516	Increased intracranial pressure	4072	EPCAM	ORPHA:144
HP:0002516	Increased intracranial pressure	4292	MLH1	ORPHA:144
HP:0002516	Increased intracranial pressure	5395	PMS2	ORPHA:144
HP:0002516	Increased intracranial pressure	7048	TGFBR2	ORPHA:144
HP:0002516	Increased intracranial pressure	3845	KRAS	ORPHA:144
HP:0002516	Increased intracranial pressure	2956	MSH6	ORPHA:144
HP:0002516	Increased intracranial pressure	5378	PMS1	ORPHA:144
HP:0002516	Increased intracranial pressure	4436	MSH2	ORPHA:144
HP:0002516	Increased intracranial pressure	5551	PRF1	OMIM:603553
HP:0002516	Increased intracranial pressure	79848	CSPP1	ORPHA:397715
HP:0002516	Increased intracranial pressure	9786	KIAA0586	ORPHA:397715
HP:0002516	Increased intracranial pressure	11235	PDCD10	ORPHA:221061
HP:0002516	Increased intracranial pressure	83605	CCM2	ORPHA:221061
HP:0002516	Increased intracranial pressure	889	KRIT1	ORPHA:221061
HP:0002516	Increased intracranial pressure	64218	SEMA4A	ORPHA:440437
HP:0002516	Increased intracranial pressure	472	ATM	ORPHA:440437
HP:0002516	Increased intracranial pressure	5426	POLE	ORPHA:440437
HP:0002516	Increased intracranial pressure	675	BRCA2	ORPHA:440437
HP:0002516	Increased intracranial pressure	657	BMPR1A	ORPHA:440437
HP:0002516	Increased intracranial pressure	6224	RPS20	ORPHA:440437
HP:0002516	Increased intracranial pressure	4595	MUTYH	ORPHA:440437
HP:0002516	Increased intracranial pressure	5424	POLD1	ORPHA:440437
HP:0002516	Increased intracranial pressure	11200	CHEK2	ORPHA:440437
HP:0002516	Increased intracranial pressure	3662	IRF4	ORPHA:3452
HP:0002516	Increased intracranial pressure	7428	VHL	ORPHA:892
HP:0002516	Increased intracranial pressure	595	CCND1	ORPHA:892
HP:0002516	Increased intracranial pressure	22943	DKK1	ORPHA:268882
HP:0002516	Increased intracranial pressure	727676	SNORD118	ORPHA:542310
HP:0002516	Increased intracranial pressure	63916	ELMO2	OMIM:606893
HP:0002516	Increased intracranial pressure	2581	GALC	ORPHA:206436
HP:0002516	Increased intracranial pressure	5660	PSAP	ORPHA:206436
HP:0002516	Increased intracranial pressure	2260	FGFR1	ORPHA:3366
HP:0002516	Increased intracranial pressure	158326	FREM1	ORPHA:3366
HP:0002516	Increased intracranial pressure	1513	CTSK	ORPHA:763
HP:0002516	Increased intracranial pressure	10483	SEC23B	ORPHA:201
HP:0002516	Increased intracranial pressure	5728	PTEN	ORPHA:201
HP:0002516	Increased intracranial pressure	5728	PTEN	ORPHA:65285
HP:0002516	Increased intracranial pressure	6390	SDHB	ORPHA:201
HP:0002516	Increased intracranial pressure	6392	SDHD	ORPHA:201
HP:0002516	Increased intracranial pressure	6391	SDHC	ORPHA:201
HP:0002516	Increased intracranial pressure	205717	USF3	ORPHA:201
HP:0002516	Increased intracranial pressure	100144748	KLLN	ORPHA:201
HP:0002516	Increased intracranial pressure	3897	L1CAM	ORPHA:2182
HP:0002516	Increased intracranial pressure	5144	PDE4D	ORPHA:439822
HP:0002516	Increased intracranial pressure	5144	PDE4D	OMIM:614613
HP:0002516	Increased intracranial pressure	60529	ALX4	ORPHA:35093
HP:0002516	Increased intracranial pressure	84168	ANTXR1	ORPHA:2067
HP:0002516	Increased intracranial pressure	149233	IL23R	ORPHA:117
HP:0002516	Increased intracranial pressure	6775	STAT4	ORPHA:117
HP:0002516	Increased intracranial pressure	3586	IL10	ORPHA:117
HP:0002516	Increased intracranial pressure	4210	MEFV	ORPHA:117
HP:0002516	Increased intracranial pressure	1230	CCR1	ORPHA:117
HP:0002516	Increased intracranial pressure	355	FAS	ORPHA:117
HP:0002516	Increased intracranial pressure	3592	IL12A	ORPHA:117
HP:0002516	Increased intracranial pressure	101928376	IL12A-AS1	ORPHA:117
HP:0002516	Increased intracranial pressure	3106	HLA-B	ORPHA:117
HP:0002516	Increased intracranial pressure	7099	TLR4	ORPHA:117
HP:0002516	Increased intracranial pressure	3459	IFNGR1	ORPHA:117
HP:0002516	Increased intracranial pressure	720	C4A	ORPHA:117
HP:0002516	Increased intracranial pressure	337867	UBAC2	ORPHA:117
HP:0002516	Increased intracranial pressure	51752	ERAP1	ORPHA:117
HP:0002516	Increased intracranial pressure	8302	KLRC4	ORPHA:117
HP:0002516	Increased intracranial pressure	1499	CTNNB1	ORPHA:54595
HP:0002516	Increased intracranial pressure	6938	TCF12	ORPHA:35099
HP:0002516	Increased intracranial pressure	7545	ZIC1	ORPHA:35099
HP:0010628	Facial palsy	4359	MPZ	OMIM:618184
HP:0010628	Facial palsy	91574	MTRFR	ORPHA:254930
HP:0010628	Facial palsy	91574	MTRFR	OMIM:613559
HP:0010628	Facial palsy	8506	CNTNAP1	OMIM:618186
HP:0010628	Facial palsy	8506	CNTNAP1	OMIM:616286
HP:0010628	Facial palsy	112	ADCY6	OMIM:616287
HP:0010628	Facial palsy	2733	GLE1	OMIM:611890
HP:0010628	Facial palsy	1410	CRYAB	ORPHA:399058
HP:0010628	Facial palsy	19	ABCA1	OMIM:205400
HP:0010628	Facial palsy	19	ABCA1	ORPHA:31150
HP:0010628	Facial palsy	9997	SCO2	ORPHA:521411
HP:0010628	Facial palsy	253738	EBF3	ORPHA:96148
HP:0010628	Facial palsy	9289	ADGRG1	ORPHA:98889
HP:0010628	Facial palsy	5297	PI4KA	ORPHA:98889
HP:0010628	Facial palsy	27286	SRPX2	ORPHA:98889
HP:0010628	Facial palsy	8803	SUCLA2	OMIM:612073
HP:0010628	Facial palsy	6472	SHMT2	OMIM:619121
HP:0010628	Facial palsy	10730	YME1L1	OMIM:617302
HP:0010628	Facial palsy	2218	FKTN	ORPHA:370980
HP:0010628	Facial palsy	729920	CRPPA	ORPHA:370980
HP:0010628	Facial palsy	1760	DMPK	OMIM:160900
HP:0010628	Facial palsy	9990	SLC12A6	OMIM:218000
HP:0010628	Facial palsy	4649	MYO9A	ORPHA:98914
HP:0010628	Facial palsy	1103	CHAT	ORPHA:98914
HP:0010628	Facial palsy	6576	SLC25A1	ORPHA:98914
HP:0010628	Facial palsy	6843	VAMP1	ORPHA:98914
HP:0010628	Facial palsy	127833	SYT2	ORPHA:98914
HP:0010628	Facial palsy	6572	SLC18A3	ORPHA:98914
HP:0010628	Facial palsy	6616	SNAP25	ORPHA:98914
HP:0010628	Facial palsy	58	ACTA1	ORPHA:97240
HP:0010628	Facial palsy	58	ACTA1	ORPHA:171436
HP:0010628	Facial palsy	58	ACTA1	ORPHA:171433
HP:0010628	Facial palsy	58	ACTA1	ORPHA:171430
HP:0010628	Facial palsy	58	ACTA1	OMIM:616852
HP:0010628	Facial palsy	58	ACTA1	OMIM:161800
HP:0010628	Facial palsy	50964	SOST	OMIM:269500
HP:0010628	Facial palsy	50964	SOST	ORPHA:3416
HP:0010628	Facial palsy	50964	SOST	ORPHA:3152
HP:0010628	Facial palsy	274	BIN1	ORPHA:169186
HP:0010628	Facial palsy	274	BIN1	OMIM:255200
HP:0010628	Facial palsy	10290	SPEG	ORPHA:169186
HP:0010628	Facial palsy	6261	RYR1	ORPHA:169186
HP:0010628	Facial palsy	6261	RYR1	OMIM:255320
HP:0010628	Facial palsy	6261	RYR1	ORPHA:178145
HP:0010628	Facial palsy	6261	RYR1	ORPHA:98905
HP:0010628	Facial palsy	7273	TTN	ORPHA:169186
HP:0010628	Facial palsy	291	SLC25A4	ORPHA:254892
HP:0010628	Facial palsy	291	SLC25A4	OMIM:609283
HP:0010628	Facial palsy	5428	POLG	ORPHA:254892
HP:0010628	Facial palsy	5428	POLG	OMIM:258450
HP:0010628	Facial palsy	5428	POLG	ORPHA:254886
HP:0010628	Facial palsy	5428	POLG	OMIM:157640
HP:0010628	Facial palsy	56652	TWNK	ORPHA:254892
HP:0010628	Facial palsy	11232	POLG2	ORPHA:254892
HP:0010628	Facial palsy	11232	POLG2	OMIM:610131
HP:0010628	Facial palsy	50484	RRM2B	ORPHA:254892
HP:0010628	Facial palsy	22827	PUF60	ORPHA:508498
HP:0010628	Facial palsy	55906	ZC4H2	OMIM:301041
HP:0010628	Facial palsy	55906	ZC4H2	OMIM:314580
HP:0010628	Facial palsy	1145	CHRNE	OMIM:608931
HP:0010628	Facial palsy	1145	CHRNE	ORPHA:98913
HP:0010628	Facial palsy	2673	GFPT1	OMIM:608931
HP:0010628	Facial palsy	2673	GFPT1	ORPHA:353327
HP:0010628	Facial palsy	2673	GFPT1	OMIM:610542
HP:0010628	Facial palsy	1291	COL6A1	OMIM:254090
HP:0010628	Facial palsy	1144	CHRND	OMIM:616322
HP:0010628	Facial palsy	1144	CHRND	OMIM:616323
HP:0010628	Facial palsy	1144	CHRND	ORPHA:98913
HP:0010628	Facial palsy	2138	EYA1	OMIM:113650
HP:0010628	Facial palsy	2138	EYA1	ORPHA:107
HP:0010628	Facial palsy	2138	EYA1	ORPHA:52429
HP:0010628	Facial palsy	6495	SIX1	OMIM:113650
HP:0010628	Facial palsy	6495	SIX1	ORPHA:107
HP:0010628	Facial palsy	6495	SIX1	ORPHA:52429
HP:0010628	Facial palsy	56203	LMOD3	OMIM:616165
HP:0010628	Facial palsy	56203	LMOD3	ORPHA:171436
HP:0010628	Facial palsy	56203	LMOD3	ORPHA:171430
HP:0010628	Facial palsy	2697	GJA1	ORPHA:1522
HP:0010628	Facial palsy	2697	GJA1	OMIM:218400
HP:0010628	Facial palsy	56172	ANKH	ORPHA:1522
HP:0010628	Facial palsy	56172	ANKH	OMIM:123000
HP:0010628	Facial palsy	10312	TCIRG1	OMIM:259700
HP:0010628	Facial palsy	1305	COL13A1	OMIM:616720
HP:0010628	Facial palsy	1305	COL13A1	ORPHA:98913
HP:0010628	Facial palsy	23394	ADNP	OMIM:615873
HP:0010628	Facial palsy	400916	CHCHD10	OMIM:616209
HP:0010628	Facial palsy	4038	LRP4	OMIM:614305
HP:0010628	Facial palsy	4038	LRP4	ORPHA:98913
HP:0010628	Facial palsy	4038	LRP4	ORPHA:3152
HP:0010628	Facial palsy	7415	VCP	OMIM:167320
HP:0010628	Facial palsy	1134	CHRNA1	OMIM:608930
HP:0010628	Facial palsy	1134	CHRNA1	ORPHA:98913
HP:0010628	Facial palsy	4747	NEFL	OMIM:607684
HP:0010628	Facial palsy	825	CAPN3	OMIM:253600
HP:0010628	Facial palsy	57167	SALL4	OMIM:607323
HP:0010628	Facial palsy	79581	SLC52A2	OMIM:614707
HP:0010628	Facial palsy	10049	DNAJB6	OMIM:603511
HP:0010628	Facial palsy	1120	CHKB	OMIM:602541
HP:0010628	Facial palsy	57165	GJC2	OMIM:608804
HP:0010628	Facial palsy	29887	SNX10	OMIM:615085
HP:0010628	Facial palsy	7169	TPM2	ORPHA:171436
HP:0010628	Facial palsy	7169	TPM2	ORPHA:171881
HP:0010628	Facial palsy	4703	NEB	ORPHA:171436
HP:0010628	Facial palsy	4703	NEB	ORPHA:171433
HP:0010628	Facial palsy	4703	NEB	ORPHA:171430
HP:0010628	Facial palsy	10324	KLHL41	ORPHA:171436
HP:0010628	Facial palsy	10324	KLHL41	ORPHA:171433
HP:0010628	Facial palsy	10324	KLHL41	ORPHA:171430
HP:0010628	Facial palsy	1073	CFL2	ORPHA:171436
HP:0010628	Facial palsy	60482	SLC5A7	OMIM:617143
HP:0010628	Facial palsy	7084	TK2	ORPHA:254886
HP:0010628	Facial palsy	92667	MGME1	OMIM:615084
HP:0010628	Facial palsy	7170	TPM3	ORPHA:171433
HP:0010628	Facial palsy	7170	TPM3	ORPHA:171881
HP:0010628	Facial palsy	7170	TPM3	OMIM:255310
HP:0010628	Facial palsy	29998	BICRA	OMIM:619325
HP:0010628	Facial palsy	131377	KLHL40	ORPHA:171430
HP:0010628	Facial palsy	131377	KLHL40	OMIM:615348
HP:0010628	Facial palsy	9790	BMS1	ORPHA:1114
HP:0010628	Facial palsy	5339	PLEC	ORPHA:1114
HP:0010628	Facial palsy	10054	UBA2	ORPHA:1114
HP:0010628	Facial palsy	3691	ITGB4	ORPHA:1114
HP:0010628	Facial palsy	54567	DLL4	ORPHA:1114
HP:0010628	Facial palsy	4041	LRP5	ORPHA:3416
HP:0010628	Facial palsy	4041	LRP5	ORPHA:2790
HP:0010628	Facial palsy	4041	LRP5	ORPHA:178377
HP:0010628	Facial palsy	84466	MEGF10	OMIM:614399
HP:0010628	Facial palsy	55636	CHD7	ORPHA:138
HP:0010628	Facial palsy	55636	CHD7	OMIM:214800
HP:0010628	Facial palsy	9723	SEMA3E	ORPHA:138
HP:0010628	Facial palsy	3908	LAMA2	ORPHA:258
HP:0010628	Facial palsy	4625	MYH7	OMIM:160500
HP:0010628	Facial palsy	389827	MYMK	ORPHA:1358
HP:0010628	Facial palsy	389827	MYMK	OMIM:254940
HP:0010628	Facial palsy	101929726	MYMX	ORPHA:1358
HP:0010628	Facial palsy	29925	GMPPB	ORPHA:353327
HP:0010628	Facial palsy	29925	GMPPB	ORPHA:370968
HP:0010628	Facial palsy	1798	DPAGT1	ORPHA:353327
HP:0010628	Facial palsy	85365	ALG2	ORPHA:353327
HP:0010628	Facial palsy	199857	ALG14	ORPHA:353327
HP:0010628	Facial palsy	427	ASAH1	OMIM:159950
HP:0010628	Facial palsy	79147	FKRP	ORPHA:370968
HP:0010628	Facial palsy	79147	FKRP	OMIM:606612
HP:0010628	Facial palsy	29954	POMT2	ORPHA:370968
HP:0010628	Facial palsy	29954	POMT2	OMIM:613156
HP:0010628	Facial palsy	9215	LARGE1	ORPHA:370968
HP:0010628	Facial palsy	9215	LARGE1	OMIM:608840
HP:0010628	Facial palsy	10585	POMT1	ORPHA:370968
HP:0010628	Facial palsy	10585	POMT1	OMIM:613155
HP:0010628	Facial palsy	57190	SELENON	OMIM:602771
HP:0010628	Facial palsy	51816	ADA2	OMIM:182410
HP:0010628	Facial palsy	5980	REV3L	ORPHA:570
HP:0010628	Facial palsy	23129	PLXND1	ORPHA:570
HP:0010628	Facial palsy	10735	STAG2	OMIM:301022
HP:0010628	Facial palsy	2483	FRG1	OMIM:158900
HP:0010628	Facial palsy	23347	SMCHD1	OMIM:158901
HP:0010628	Facial palsy	8878	SQSTM1	OMIM:617158
HP:0010628	Facial palsy	84665	MYPN	ORPHA:171881
HP:0010628	Facial palsy	84665	MYPN	OMIM:617336
HP:0010628	Facial palsy	10381	TUBB3	OMIM:600638
HP:0010628	Facial palsy	22954	TRIM32	OMIM:254110
HP:0010628	Facial palsy	56244	BTNL2	OMIM:612387
HP:0010628	Facial palsy	56244	BTNL2	ORPHA:797
HP:0010628	Facial palsy	29967	LRP12	OMIM:164310
HP:0010628	Facial palsy	1292	COL6A2	OMIM:255600
HP:0010628	Facial palsy	10020	GNE	ORPHA:602
HP:0010628	Facial palsy	7020	TFAP2A	OMIM:113620
HP:0010628	Facial palsy	51651	PTRH2	ORPHA:456312
HP:0010628	Facial palsy	1303	COL12A1	OMIM:616470
HP:0010628	Facial palsy	7317	UBA1	OMIM:301830
HP:0010628	Facial palsy	390594	KBTBD13	OMIM:609273
HP:0010628	Facial palsy	139285	AMER1	ORPHA:2780
HP:0010628	Facial palsy	139285	AMER1	OMIM:300373
HP:0010628	Facial palsy	9531	BAG3	OMIM:612954
HP:0010628	Facial palsy	9244	CRLF1	OMIM:272430
HP:0010628	Facial palsy	113278	SLC52A3	OMIM:211530
HP:0010628	Facial palsy	3123	HLA-DRB1	ORPHA:797
HP:0010628	Facial palsy	84617	TUBB6	OMIM:617732
HP:0010628	Facial palsy	9791	PTDSS1	ORPHA:2658
HP:0010628	Facial palsy	8314	BAP1	ORPHA:2495
HP:0010628	Facial palsy	4771	NF2	ORPHA:2495
HP:0010628	Facial palsy	4771	NF2	ORPHA:637
HP:0010628	Facial palsy	6598	SMARCB1	ORPHA:2495
HP:0010628	Facial palsy	5155	PDGFB	ORPHA:2495
HP:0010628	Facial palsy	84231	TRAF7	ORPHA:2495
HP:0010628	Facial palsy	6608	SMO	ORPHA:2495
HP:0010628	Facial palsy	207	AKT1	ORPHA:2495
HP:0010628	Facial palsy	5290	PIK3CA	ORPHA:2495
HP:0010628	Facial palsy	7015	TERT	ORPHA:2495
HP:0010628	Facial palsy	51684	SUFU	ORPHA:2495
HP:0010628	Facial palsy	6605	SMARCE1	ORPHA:2495
HP:0010628	Facial palsy	3211	HOXB1	OMIM:614744
HP:0010628	Facial palsy	4534	MTM1	OMIM:310400
HP:0010628	Facial palsy	7040	TGFB1	ORPHA:1328
HP:0010628	Facial palsy	8085	KMT2D	OMIM:620186
HP:0010628	Facial palsy	80704	SLC19A3	OMIM:607483
HP:0010628	Facial palsy	147912	SIX5	ORPHA:107
HP:0010628	Facial palsy	8898	MTMR2	OMIM:601382
HP:0010628	Facial palsy	64419	MTMR14	OMIM:160150
HP:0010628	Facial palsy	1785	DNM2	OMIM:160150
HP:0010628	Facial palsy	2934	GSN	ORPHA:85448
HP:0010628	Facial palsy	23095	KIF1B	OMIM:118210
HP:0010628	Facial palsy	1674	DES	OMIM:601419
HP:0010628	Facial palsy	8292	COLQ	ORPHA:98915
HP:0010628	Facial palsy	3913	LAMB2	ORPHA:98915
HP:0010628	Facial palsy	6444	SGCD	ORPHA:219
HP:0010628	Facial palsy	23516	SLC39A14	OMIM:144755
HP:0010628	Facial palsy	8106	PABPN1	OMIM:164300
HP:0010628	Facial palsy	6329	SCN4A	ORPHA:98913
HP:0010628	Facial palsy	1140	CHRNB1	ORPHA:98913
HP:0010628	Facial palsy	1140	CHRNB1	OMIM:616313
HP:0010628	Facial palsy	4593	MUSK	ORPHA:98913
HP:0010628	Facial palsy	5913	RAPSN	ORPHA:98913
HP:0010628	Facial palsy	375790	AGRN	ORPHA:98913
HP:0010628	Facial palsy	221264	AK9	ORPHA:98913
HP:0010628	Facial palsy	285489	DOK7	ORPHA:98913
HP:0010628	Facial palsy	1186	CLCN7	OMIM:166600
HP:0010628	Facial palsy	1186	CLCN7	OMIM:611490
HP:0010628	Facial palsy	1186	CLCN7	ORPHA:53
HP:0010628	Facial palsy	55670	PEX26	ORPHA:772
HP:0010628	Facial palsy	5824	PEX19	ORPHA:772
HP:0010628	Facial palsy	5828	PEX2	ORPHA:772
HP:0010628	Facial palsy	8504	PEX3	ORPHA:772
HP:0010628	Facial palsy	9409	PEX16	ORPHA:772
HP:0010628	Facial palsy	5190	PEX6	ORPHA:772
HP:0010628	Facial palsy	8799	PEX11B	ORPHA:772
HP:0010628	Facial palsy	5830	PEX5	ORPHA:772
HP:0010628	Facial palsy	5189	PEX1	ORPHA:772
HP:0010628	Facial palsy	5193	PEX12	ORPHA:772
HP:0010628	Facial palsy	5194	PEX13	ORPHA:772
HP:0010628	Facial palsy	5195	PEX14	ORPHA:772
HP:0010628	Facial palsy	5192	PEX10	ORPHA:772
HP:0010628	Facial palsy	339855	KY	OMIM:617114
HP:0010628	Facial palsy	84168	ANTXR1	OMIM:230740
HP:0010628	Facial palsy	57731	SPTBN4	OMIM:617519
HP:0010628	Facial palsy	64127	NOD2	ORPHA:90340
HP:0010628	Facial palsy	8139	GAN	ORPHA:643
HP:0010628	Facial palsy	8139	GAN	OMIM:256850
HP:0010628	Facial palsy	28962	OSTM1	OMIM:259720
HP:0010628	Facial palsy	79628	SH3TC2	OMIM:601596
HP:0010628	Facial palsy	4633	MYL2	OMIM:619424
HP:0010628	Facial palsy	29089	UBE2T	OMIM:616435
HP:0010628	Facial palsy	203859	ANO5	OMIM:611307
HP:0010628	Facial palsy	203859	ANO5	ORPHA:206549
HP:0010628	Facial palsy	1861	TOR1A	OMIM:128100
HP:0010628	Facial palsy	59341	TRPV4	OMIM:181405
HP:0010628	Facial palsy	11198	SUPT16H	OMIM:619480
HP:0010628	Facial palsy	7516	XRCC2	OMIM:617247
HP:0010628	Facial palsy	3098	HK1	OMIM:618547
HP:0010628	Facial palsy	3708	ITPR1	OMIM:117360
HP:0010628	Facial palsy	23345	SYNE1	ORPHA:319332
HP:0002518	Abnormal periventricular white matter morphology	9997	SCO2	OMIM:604377
HP:0002518	Abnormal periventricular white matter morphology	4524	MTHFR	ORPHA:395
HP:0002518	Abnormal periventricular white matter morphology	10717	AP4B1	OMIM:614066
HP:0002518	Abnormal periventricular white matter morphology	10717	AP4B1	ORPHA:280763
HP:0002518	Abnormal periventricular white matter morphology	11277	TREX1	OMIM:192315
HP:0002518	Abnormal periventricular white matter morphology	51501	HIKESHI	OMIM:616881
HP:0002518	Abnormal periventricular white matter morphology	998	CDC42	ORPHA:487796
HP:0002518	Abnormal periventricular white matter morphology	998	CDC42	OMIM:616737
HP:0002518	Abnormal periventricular white matter morphology	55823	VPS11	ORPHA:466934
HP:0002518	Abnormal periventricular white matter morphology	1593	CYP27A1	OMIM:213700
HP:0002518	Abnormal periventricular white matter morphology	8818	DPM2	ORPHA:329178
HP:0002518	Abnormal periventricular white matter morphology	51091	SEPSECS	OMIM:613811
HP:0002518	Abnormal periventricular white matter morphology	81570	CLPB	OMIM:619835
HP:0002518	Abnormal periventricular white matter morphology	90624	LYRM7	OMIM:615838
HP:0002518	Abnormal periventricular white matter morphology	85358	SHANK3	OMIM:606232
HP:0002518	Abnormal periventricular white matter morphology	25914	RTTN	ORPHA:468631
HP:0002518	Abnormal periventricular white matter morphology	285362	SUMF1	OMIM:272200
HP:0002518	Abnormal periventricular white matter morphology	79783	SUGCT	ORPHA:35706
HP:0002518	Abnormal periventricular white matter morphology	5660	PSAP	OMIM:249900
HP:0002518	Abnormal periventricular white matter morphology	5660	PSAP	OMIM:611721
HP:0002518	Abnormal periventricular white matter morphology	5660	PSAP	ORPHA:206436
HP:0002518	Abnormal periventricular white matter morphology	54344	DPM3	OMIM:618992
HP:0002518	Abnormal periventricular white matter morphology	2670	GFAP	ORPHA:363722
HP:0002518	Abnormal periventricular white matter morphology	122961	ISCA2	OMIM:616370
HP:0002518	Abnormal periventricular white matter morphology	55159	RFWD3	OMIM:617784
HP:0002518	Abnormal periventricular white matter morphology	4010	LMX1B	ORPHA:495818
HP:0002518	Abnormal periventricular white matter morphology	6812	STXBP1	ORPHA:495818
HP:0002518	Abnormal periventricular white matter morphology	284217	LAMA1	OMIM:615960
HP:0002518	Abnormal periventricular white matter morphology	271	AMPD2	OMIM:615686
HP:0002518	Abnormal periventricular white matter morphology	271	AMPD2	ORPHA:401805
HP:0002518	Abnormal periventricular white matter morphology	23400	ATP13A2	OMIM:617225
HP:0002518	Abnormal periventricular white matter morphology	23400	ATP13A2	ORPHA:513436
HP:0002518	Abnormal periventricular white matter morphology	3781	KCNN2	OMIM:619725
HP:0002518	Abnormal periventricular white matter morphology	9215	LARGE1	OMIM:608840
HP:0002518	Abnormal periventricular white matter morphology	9215	LARGE1	ORPHA:370968
HP:0002518	Abnormal periventricular white matter morphology	80208	SPG11	OMIM:604360
HP:0002518	Abnormal periventricular white matter morphology	29925	GMPPB	ORPHA:370968
HP:0002518	Abnormal periventricular white matter morphology	79147	FKRP	ORPHA:370968
HP:0002518	Abnormal periventricular white matter morphology	29954	POMT2	ORPHA:370968
HP:0002518	Abnormal periventricular white matter morphology	10585	POMT1	ORPHA:370968
HP:0002518	Abnormal periventricular white matter morphology	10059	DNM1L	ORPHA:98673
HP:0002518	Abnormal periventricular white matter morphology	4976	OPA1	ORPHA:98673
HP:0002518	Abnormal periventricular white matter morphology	9179	AP4M1	ORPHA:280763
HP:0002518	Abnormal periventricular white matter morphology	11154	AP4S1	ORPHA:280763
HP:0002518	Abnormal periventricular white matter morphology	23431	AP4E1	ORPHA:280763
HP:0002518	Abnormal periventricular white matter morphology	6748	SSR4	ORPHA:370927
HP:0002518	Abnormal periventricular white matter morphology	215	ABCD1	ORPHA:139396
HP:0002518	Abnormal periventricular white matter morphology	7317	UBA1	ORPHA:1145
HP:0002518	Abnormal periventricular white matter morphology	5879	RAC1	ORPHA:500159
HP:0002518	Abnormal periventricular white matter morphology	1282	COL4A1	OMIM:611773
HP:0002518	Abnormal periventricular white matter morphology	283989	TSEN54	OMIM:277470
HP:0002518	Abnormal periventricular white matter morphology	8560	DEGS1	OMIM:618404
HP:0002518	Abnormal periventricular white matter morphology	2581	GALC	ORPHA:206436
HP:0002518	Abnormal periventricular white matter morphology	5832	ALDH18A1	ORPHA:447760
HP:0002518	Abnormal periventricular white matter morphology	10352	WARS2	ORPHA:572798
HP:0002518	Abnormal periventricular white matter morphology	4208	MEF2C	OMIM:613443
HP:0002518	Abnormal periventricular white matter morphology	93627	TBCK	ORPHA:488632
HP:0002518	Abnormal periventricular white matter morphology	79152	FA2H	OMIM:612319
HP:0002518	Abnormal periventricular white matter morphology	760	CA2	ORPHA:2785
HP:0002518	Abnormal periventricular white matter morphology	54	ACP5	ORPHA:1855
HP:0002518	Abnormal periventricular white matter morphology	435	ASL	ORPHA:23
HP:0002518	Abnormal periventricular white matter morphology	22827	PUF60	ORPHA:508498
HP:0002518	Abnormal periventricular white matter morphology	80267	EDEM3	OMIM:619493
HP:0002518	Abnormal periventricular white matter morphology	5091	PC	OMIM:266150
HP:0002518	Abnormal periventricular white matter morphology	4718	NDUFC2	OMIM:619170
HP:0002518	Abnormal periventricular white matter morphology	7874	USP7	ORPHA:500055
HP:0002518	Abnormal periventricular white matter morphology	55621	TRMT1	OMIM:618302
HP:0002518	Abnormal periventricular white matter morphology	197258	FCSK	OMIM:618324
HP:0002518	Abnormal periventricular white matter morphology	6651	SON	ORPHA:500150
HP:0002518	Abnormal periventricular white matter morphology	6651	SON	OMIM:617140
HP:0002518	Abnormal periventricular white matter morphology	26047	CNTNAP2	OMIM:610042
HP:0002518	Abnormal periventricular white matter morphology	26047	CNTNAP2	ORPHA:163681
HP:0002518	Abnormal periventricular white matter morphology	79029	AFG2B	OMIM:619616
HP:0002518	Abnormal periventricular white matter morphology	57479	PRR12	OMIM:619539
HP:0002518	Abnormal periventricular white matter morphology	51002	TPRKB	OMIM:617731
HP:0002518	Abnormal periventricular white matter morphology	4358	MPV17	OMIM:256810
HP:0002518	Abnormal periventricular white matter morphology	57514	ARHGAP31	OMIM:100300
HP:0002518	Abnormal periventricular white matter morphology	57514	ARHGAP31	ORPHA:974
HP:0002518	Abnormal periventricular white matter morphology	4897	NRCAM	OMIM:619833
HP:0002518	Abnormal periventricular white matter morphology	1183	CLCN4	ORPHA:485350
HP:0002518	Abnormal periventricular white matter morphology	3098	HK1	OMIM:618547
HP:0002518	Abnormal periventricular white matter morphology	23259	DDHD2	ORPHA:320380
HP:0002518	Abnormal periventricular white matter morphology	5927	KDM5A	OMIM:620820
HP:0002518	Abnormal periventricular white matter morphology	404672	GTF2H5	ORPHA:33364
HP:0002518	Abnormal periventricular white matter morphology	833	CARS1	ORPHA:33364
HP:0002518	Abnormal periventricular white matter morphology	2068	ERCC2	ORPHA:33364
HP:0002518	Abnormal periventricular white matter morphology	7737	RNF113A	ORPHA:33364
HP:0002518	Abnormal periventricular white matter morphology	136647	MPLKIP	ORPHA:33364
HP:0002518	Abnormal periventricular white matter morphology	6897	TARS1	ORPHA:33364
HP:0002518	Abnormal periventricular white matter morphology	16	AARS1	ORPHA:33364
HP:0002518	Abnormal periventricular white matter morphology	2071	ERCC3	ORPHA:33364
HP:0002518	Abnormal periventricular white matter morphology	2961	GTF2E2	ORPHA:33364
HP:0002518	Abnormal periventricular white matter morphology	9361	LONP1	ORPHA:79243
HP:0002518	Abnormal periventricular white matter morphology	5160	PDHA1	ORPHA:79243
HP:0002518	Abnormal periventricular white matter morphology	8496	PPFIBP1	OMIM:620024
HP:0002518	Abnormal periventricular white matter morphology	2972	BRF1	ORPHA:444072
HP:0002518	Abnormal periventricular white matter morphology	5162	PDHB	ORPHA:255138
HP:0002518	Abnormal periventricular white matter morphology	8621	CDK13	OMIM:617360
HP:0002518	Abnormal periventricular white matter morphology	7543	ZFX	OMIM:301118
HP:0002518	Abnormal periventricular white matter morphology	22880	MORC2	ORPHA:466768
HP:0002518	Abnormal periventricular white matter morphology	375387	NRROS	OMIM:618875
HP:0002518	Abnormal periventricular white matter morphology	57505	AARS2	OMIM:615889
HP:0002518	Abnormal periventricular white matter morphology	200424	TET3	OMIM:618798
HP:0002518	Abnormal periventricular white matter morphology	55753	OGDHL	OMIM:619701
HP:0002518	Abnormal periventricular white matter morphology	10664	CTCF	OMIM:615502
HP:0002518	Abnormal periventricular white matter morphology	196528	ARID2	OMIM:617808
HP:0002518	Abnormal periventricular white matter morphology	26834	RNU4-2	OMIM:620851
HP:0002518	Abnormal periventricular white matter morphology	3516	RBPJ	ORPHA:974
HP:0002518	Abnormal periventricular white matter morphology	4851	NOTCH1	ORPHA:974
HP:0002518	Abnormal periventricular white matter morphology	57572	DOCK6	ORPHA:974
HP:0002518	Abnormal periventricular white matter morphology	285203	EOGT	ORPHA:974
HP:0002518	Abnormal periventricular white matter morphology	54567	DLL4	ORPHA:974
HP:0002518	Abnormal periventricular white matter morphology	90952	ESAM	OMIM:620371
HP:0002518	Abnormal periventricular white matter morphology	4953	ODC1	OMIM:619075
HP:0002518	Abnormal periventricular white matter morphology	4953	ODC1	ORPHA:544488
HP:0002518	Abnormal periventricular white matter morphology	26235	FBXL4	OMIM:615471
HP:0002518	Abnormal periventricular white matter morphology	790955	UQCC3	OMIM:616111
HP:0002518	Abnormal periventricular white matter morphology	2193	FARSA	OMIM:619013
HP:0002518	Abnormal periventricular white matter morphology	387787	LIPT2	OMIM:617668
HP:0002518	Abnormal periventricular white matter morphology	9373	PLAA	OMIM:617527
HP:0002518	Abnormal periventricular white matter morphology	7468	NSD2	OMIM:194190
HP:0002518	Abnormal periventricular white matter morphology	10815	CPLX1	OMIM:194190
HP:0002518	Abnormal periventricular white matter morphology	1487	CTBP1	OMIM:194190
HP:0002518	Abnormal periventricular white matter morphology	53834	FGFRL1	OMIM:194190
HP:0002518	Abnormal periventricular white matter morphology	3954	LETM1	OMIM:194190
HP:0002518	Abnormal periventricular white matter morphology	4952	OCRL	OMIM:309000
HP:0002518	Abnormal periventricular white matter morphology	8050	PDHX	ORPHA:255182
HP:0002518	Abnormal periventricular white matter morphology	410	ARSA	ORPHA:309271
HP:0002518	Abnormal periventricular white matter morphology	410	ARSA	ORPHA:309263
HP:0002518	Abnormal periventricular white matter morphology	410	ARSA	ORPHA:309256
HP:0002518	Abnormal periventricular white matter morphology	1267	CNP	OMIM:619071
HP:0002518	Abnormal periventricular white matter morphology	2760	GM2A	ORPHA:309246
HP:0002518	Abnormal periventricular white matter morphology	51324	SPG21	OMIM:248900
HP:0002518	Abnormal periventricular white matter morphology	84065	TMEM222	OMIM:619470
HP:0002518	Abnormal periventricular white matter morphology	7555	CNBP	OMIM:602668
HP:0002518	Abnormal periventricular white matter morphology	6134	RPL10	OMIM:300998
HP:0002518	Abnormal periventricular white matter morphology	5058	PAK1	OMIM:618158
HP:0002518	Abnormal periventricular white matter morphology	4761	NEUROD2	OMIM:618374
HP:0002518	Abnormal periventricular white matter morphology	22866	CNKSR2	OMIM:301008
HP:0002518	Abnormal periventricular white matter morphology	9692	PRORP	OMIM:619737
HP:0002518	Abnormal periventricular white matter morphology	92335	STRADA	ORPHA:500533
HP:0002518	Abnormal periventricular white matter morphology	51412	ACTL6B	OMIM:618468
HP:0002518	Abnormal periventricular white matter morphology	25974	MMACHC	ORPHA:79282
HP:0002518	Abnormal periventricular white matter morphology	2783	GNB2	OMIM:619503
HP:0002518	Abnormal periventricular white matter morphology	7920	ABHD16A	OMIM:619735
HP:0002518	Abnormal periventricular white matter morphology	25782	RAB3GAP2	OMIM:212720
HP:0002518	Abnormal periventricular white matter morphology	85465	SELENOI	OMIM:618768
HP:0002518	Abnormal periventricular white matter morphology	59	ACTA2	OMIM:613834
HP:0002518	Abnormal periventricular white matter morphology	9907	AP5Z1	OMIM:613647
HP:0002518	Abnormal periventricular white matter morphology	80036	TRPM3	OMIM:620224
HP:0002518	Abnormal periventricular white matter morphology	10060	ABCC9	OMIM:619719
HP:0002519	Hypnagogic hallucination	3060	HCRT	OMIM:161400
HP:0002519	Hypnagogic hallucination	3060	HCRT	ORPHA:2073
HP:0002519	Hypnagogic hallucination	4340	MOG	OMIM:614250
HP:0002519	Hypnagogic hallucination	4340	MOG	ORPHA:2073
HP:0002519	Hypnagogic hallucination	1786	DNMT1	OMIM:604121
HP:0002519	Hypnagogic hallucination	1512	CTSH	ORPHA:2073
HP:0002519	Hypnagogic hallucination	5032	P2RY11	ORPHA:2073
HP:0002519	Hypnagogic hallucination	3119	HLA-DQB1	ORPHA:2073
HP:0002519	Hypnagogic hallucination	22891	ZNF365	ORPHA:2073
HP:0002519	Hypnagogic hallucination	7292	TNFSF4	ORPHA:2073
HP:0002519	Hypnagogic hallucination	3123	HLA-DRB1	ORPHA:2073
HP:0002519	Hypnagogic hallucination	9881	TRANK1	ORPHA:33543
HP:0002188	Delayed CNS myelination	199857	ALG14	OMIM:619031
HP:0002188	Delayed CNS myelination	199857	ALG14	OMIM:619036
HP:0002188	Delayed CNS myelination	9131	AIFM1	OMIM:300232
HP:0002188	Delayed CNS myelination	26235	FBXL4	OMIM:615471
HP:0002188	Delayed CNS myelination	8367	H4C5	OMIM:619950
HP:0002188	Delayed CNS myelination	104	ADARB1	OMIM:618862
HP:0002188	Delayed CNS myelination	375	ARF1	OMIM:618185
HP:0002188	Delayed CNS myelination	2775	GNAO1	OMIM:615473
HP:0002188	Delayed CNS myelination	2775	GNAO1	OMIM:617493
HP:0002188	Delayed CNS myelination	6873	TAF2	OMIM:615599
HP:0002188	Delayed CNS myelination	3145	HMBS	OMIM:620704
HP:0002188	Delayed CNS myelination	10059	DNM1L	OMIM:614388
HP:0002188	Delayed CNS myelination	55823	VPS11	ORPHA:466934
HP:0002188	Delayed CNS myelination	23417	MLYCD	OMIM:248360
HP:0002188	Delayed CNS myelination	4897	NRCAM	OMIM:619833
HP:0002188	Delayed CNS myelination	347734	SLC35B2	OMIM:620269
HP:0002188	Delayed CNS myelination	81570	CLPB	OMIM:619835
HP:0002188	Delayed CNS myelination	51343	FZR1	OMIM:620145
HP:0002188	Delayed CNS myelination	23126	POGZ	ORPHA:468678
HP:0002188	Delayed CNS myelination	23126	POGZ	OMIM:616364
HP:0002188	Delayed CNS myelination	51741	WWOX	OMIM:616211
HP:0002188	Delayed CNS myelination	51506	UFC1	OMIM:618076
HP:0002188	Delayed CNS myelination	283489	CHAMP1	OMIM:616579
HP:0002188	Delayed CNS myelination	387787	LIPT2	OMIM:617668
HP:0002188	Delayed CNS myelination	57465	TBC1D24	ORPHA:352596
HP:0002188	Delayed CNS myelination	4010	LMX1B	ORPHA:495818
HP:0002188	Delayed CNS myelination	6812	STXBP1	ORPHA:495818
HP:0002188	Delayed CNS myelination	6812	STXBP1	OMIM:612164
HP:0002188	Delayed CNS myelination	478	ATP1A3	OMIM:619606
HP:0002188	Delayed CNS myelination	166378	AFG2A	OMIM:616577
HP:0002188	Delayed CNS myelination	65082	VPS33A	OMIM:617303
HP:0002188	Delayed CNS myelination	10730	YME1L1	OMIM:617302
HP:0002188	Delayed CNS myelination	375387	NRROS	OMIM:618875
HP:0002188	Delayed CNS myelination	80055	PGAP1	OMIM:615802
HP:0002188	Delayed CNS myelination	5610	EIF2AK2	OMIM:618877
HP:0002188	Delayed CNS myelination	3781	KCNN2	OMIM:619725
HP:0002188	Delayed CNS myelination	9915	ARNT2	OMIM:615926
HP:0002188	Delayed CNS myelination	57582	KCNT1	OMIM:614959
HP:0002188	Delayed CNS myelination	79693	YRDC	OMIM:619609
HP:0002188	Delayed CNS myelination	7175	TPR	OMIM:620393
HP:0002188	Delayed CNS myelination	57492	ARID1B	OMIM:135900
HP:0002188	Delayed CNS myelination	55870	ASH1L	OMIM:617796
HP:0002188	Delayed CNS myelination	6884	TAF13	OMIM:617432
HP:0002188	Delayed CNS myelination	7528	YY1	OMIM:617557
HP:0002188	Delayed CNS myelination	6573	SLC19A1	OMIM:620603
HP:0002188	Delayed CNS myelination	5191	PEX7	OMIM:215100
HP:0002188	Delayed CNS myelination	501	ALDH7A1	ORPHA:3006
HP:0002188	Delayed CNS myelination	11212	PLPBP	ORPHA:3006
HP:0002188	Delayed CNS myelination	652	BMP4	OMIM:607932
HP:0002188	Delayed CNS myelination	1656	DDX6	OMIM:618653
HP:0002188	Delayed CNS myelination	55703	POLR3B	OMIM:619742
HP:0002188	Delayed CNS myelination	497661	C18orf32	OMIM:619985
HP:0002188	Delayed CNS myelination	23327	NEDD4L	OMIM:617201
HP:0002188	Delayed CNS myelination	132158	GLYCTK	OMIM:220120
HP:0002188	Delayed CNS myelination	833	CARS1	OMIM:618891
HP:0002188	Delayed CNS myelination	57178	ZMIZ1	OMIM:618659
HP:0002188	Delayed CNS myelination	2783	GNB2	OMIM:619503
HP:0002188	Delayed CNS myelination	25942	SIN3A	OMIM:613406
HP:0002188	Delayed CNS myelination	26834	RNU4-2	OMIM:620851
HP:0002188	Delayed CNS myelination	7915	ALDH5A1	OMIM:271980
HP:0002188	Delayed CNS myelination	27245	AHDC1	OMIM:615829
HP:0002188	Delayed CNS myelination	1499	CTNNB1	ORPHA:404473
HP:0002188	Delayed CNS myelination	9653	HS2ST1	OMIM:619194
HP:0002188	Delayed CNS myelination	5518	PPP2R1A	OMIM:616362
HP:0002188	Delayed CNS myelination	1186	CLCN7	OMIM:618541
HP:0002188	Delayed CNS myelination	55768	NGLY1	OMIM:615273
HP:0002188	Delayed CNS myelination	1182	CLCN3	OMIM:619512
HP:0002188	Delayed CNS myelination	1182	CLCN3	OMIM:619517
HP:0002188	Delayed CNS myelination	149371	EXOC8	OMIM:619076
HP:0002188	Delayed CNS myelination	54914	FOCAD	OMIM:619991
HP:0002188	Delayed CNS myelination	56006	SMG9	OMIM:616920
HP:0002188	Delayed CNS myelination	116115	ZNF526	OMIM:619877
HP:0002188	Delayed CNS myelination	4191	MDH2	OMIM:617339
HP:0002188	Delayed CNS myelination	83475	DOHH	OMIM:620066
HP:0002188	Delayed CNS myelination	6609	SMPD1	OMIM:257200
HP:0002188	Delayed CNS myelination	728294	D2HGDH	OMIM:600721
HP:0002188	Delayed CNS myelination	9276	COPB2	OMIM:619884
HP:0002188	Delayed CNS myelination	9276	COPB2	OMIM:617800
HP:0002188	Delayed CNS myelination	7358	UGDH	OMIM:618792
HP:0002188	Delayed CNS myelination	113179	ADAT3	OMIM:615286
HP:0002188	Delayed CNS myelination	4849	CNOT3	OMIM:618672
HP:0002188	Delayed CNS myelination	6506	SLC1A2	OMIM:617105
HP:0002188	Delayed CNS myelination	9440	MED17	OMIM:613668
HP:0002188	Delayed CNS myelination	25828	TXN2	OMIM:616811
HP:0002188	Delayed CNS myelination	10430	TMEM147	OMIM:620075
HP:0002188	Delayed CNS myelination	22880	MORC2	OMIM:619090
HP:0002188	Delayed CNS myelination	4677	NARS1	OMIM:619091
HP:0002188	Delayed CNS myelination	7143	TNR	OMIM:619653
HP:0002188	Delayed CNS myelination	7355	SLC35A2	OMIM:300896
HP:0002188	Delayed CNS myelination	55120	FANCL	OMIM:614083
HP:0002188	Delayed CNS myelination	197258	FCSK	OMIM:618324
HP:0002188	Delayed CNS myelination	85365	ALG2	OMIM:607906
HP:0002188	Delayed CNS myelination	3798	KIF5A	OMIM:617235
HP:0002188	Delayed CNS myelination	27086	FOXP1	OMIM:613670
HP:0002188	Delayed CNS myelination	8218	CLTCL1	ORPHA:453510
HP:0002188	Delayed CNS myelination	25836	NIPBL	OMIM:122470
HP:0002188	Delayed CNS myelination	9725	TMEM63A	OMIM:618688
HP:0002188	Delayed CNS myelination	23219	FBXO28	OMIM:619777
HP:0002188	Delayed CNS myelination	50628	GEMIN4	OMIM:617913
HP:0002188	Delayed CNS myelination	2146	EZH2	OMIM:277590
HP:0002188	Delayed CNS myelination	84978	FRMD5	OMIM:620094
HP:0002188	Delayed CNS myelination	404672	GTF2H5	OMIM:616395
HP:0002188	Delayed CNS myelination	51645	PPIL1	OMIM:619301
HP:0002188	Delayed CNS myelination	8295	TRRAP	OMIM:618454
HP:0002188	Delayed CNS myelination	10159	ATP6AP2	OMIM:300423
HP:0002188	Delayed CNS myelination	7040	TGFB1	OMIM:618213
HP:0002188	Delayed CNS myelination	51362	CDC40	OMIM:619302
HP:0002188	Delayed CNS myelination	58497	PRUNE1	OMIM:617481
HP:0002188	Delayed CNS myelination	133686	NADK2	OMIM:616034
HP:0002188	Delayed CNS myelination	51693	TRAPPC2L	OMIM:618331
HP:0002188	Delayed CNS myelination	84188	FAR1	OMIM:616154
HP:0002188	Delayed CNS myelination	27133	KCNH5	OMIM:620537
HP:0002188	Delayed CNS myelination	5813	PURA	OMIM:616158
HP:0002188	Delayed CNS myelination	22907	DHX30	OMIM:617804
HP:0002188	Delayed CNS myelination	11338	U2AF2	OMIM:620535
HP:0002188	Delayed CNS myelination	51013	EXOSC1	OMIM:619304
HP:0002188	Delayed CNS myelination	5910	RAP1GDS1	OMIM:620655
HP:0002188	Delayed CNS myelination	2744	GLS	OMIM:618339
HP:0002188	Delayed CNS myelination	81603	TRIM8	OMIM:619428
HP:0002188	Delayed CNS myelination	339453	TMEM240	OMIM:607454
HP:0002188	Delayed CNS myelination	9230	RAB11B	OMIM:617807
HP:0002188	Delayed CNS myelination	55906	ZC4H2	OMIM:301041
HP:0002188	Delayed CNS myelination	79876	UBA5	OMIM:617132
HP:0002188	Delayed CNS myelination	30000	TNPO2	OMIM:619556
HP:0002188	Delayed CNS myelination	2187	FANCB	OMIM:300514
HP:0002188	Delayed CNS myelination	2290	FOXG1	OMIM:613454
HP:0002188	Delayed CNS myelination	54973	INTS11	OMIM:620428
HP:0002188	Delayed CNS myelination	83548	COG3	OMIM:620546
HP:0002188	Delayed CNS myelination	51412	ACTL6B	OMIM:618468
HP:0002188	Delayed CNS myelination	55746	NUP133	OMIM:618349
HP:0002188	Delayed CNS myelination	85358	SHANK3	OMIM:606232
HP:0002188	Delayed CNS myelination	79796	ALG9	OMIM:608776
HP:0002188	Delayed CNS myelination	23028	KDM1A	OMIM:616728
HP:0002188	Delayed CNS myelination	170302	ARX	OMIM:308350
HP:0002188	Delayed CNS myelination	128869	PIGU	OMIM:618590
HP:0002188	Delayed CNS myelination	7707	ZNF148	OMIM:617260
HP:0002188	Delayed CNS myelination	5515	PPP2CA	OMIM:618354
HP:0002188	Delayed CNS myelination	6567	SLC16A2	OMIM:300523
HP:0002188	Delayed CNS myelination	79868	ALG13	OMIM:300884
HP:0002188	Delayed CNS myelination	51601	LIPT1	OMIM:616299
HP:0002188	Delayed CNS myelination	473	RERE	OMIM:616975
HP:0002188	Delayed CNS myelination	7453	WARS1	OMIM:620317
HP:0002188	Delayed CNS myelination	6513	SLC2A1	OMIM:608885
HP:0002188	Delayed CNS myelination	23097	CDK19	OMIM:618916
HP:0002188	Delayed CNS myelination	16	AARS1	OMIM:619691
HP:0002188	Delayed CNS myelination	10588	MTHFS	OMIM:618367
HP:0002188	Delayed CNS myelination	23221	RHOBTB2	OMIM:618004
HP:0002188	Delayed CNS myelination	63925	ZNF335	OMIM:615095
HP:0002188	Delayed CNS myelination	22930	RAB3GAP1	OMIM:600118
HP:0002188	Delayed CNS myelination	112939	NACC1	OMIM:617393
HP:0002188	Delayed CNS myelination	54496	PRMT7	OMIM:617157
HP:0002188	Delayed CNS myelination	5530	PPP3CA	OMIM:617711
HP:0002188	Delayed CNS myelination	10352	WARS2	OMIM:617710
HP:0002188	Delayed CNS myelination	23511	NUP188	OMIM:618804
HP:0002188	Delayed CNS myelination	26007	TKFC	OMIM:618805
HP:0002188	Delayed CNS myelination	4358	MPV17	OMIM:256810
HP:0002188	Delayed CNS myelination	3054	HCFC1	OMIM:309541
HP:0002188	Delayed CNS myelination	3183	HNRNPC	OMIM:620688
HP:0002188	Delayed CNS myelination	51608	GET4	OMIM:620200
HP:0002188	Delayed CNS myelination	4594	MMUT	OMIM:251000
HP:0002188	Delayed CNS myelination	2898	GRIK2	OMIM:619580
HP:0002188	Delayed CNS myelination	11342	RNF13	OMIM:618379
HP:0002188	Delayed CNS myelination	9758	FRMPD4	OMIM:300983
HP:0002188	Delayed CNS myelination	4761	NEUROD2	OMIM:618374
HP:0002188	Delayed CNS myelination	54664	TMEM106B	OMIM:617964
HP:0002188	Delayed CNS myelination	6785	ELOVL4	OMIM:614457
HP:0002188	Delayed CNS myelination	8883	NAE1	OMIM:620210
HP:0002188	Delayed CNS myelination	64864	RFX7	OMIM:620330
HP:0002188	Delayed CNS myelination	9997	SCO2	OMIM:604377
HP:0002188	Delayed CNS myelination	8943	AP3D1	OMIM:617050
HP:0002188	Delayed CNS myelination	57498	KIDINS220	OMIM:617296
HP:0002188	Delayed CNS myelination	51095	TRNT1	OMIM:616084
HP:0002188	Delayed CNS myelination	51501	HIKESHI	OMIM:616881
HP:0002188	Delayed CNS myelination	94005	PIGS	OMIM:618143
HP:0002188	Delayed CNS myelination	57468	SLC12A5	OMIM:616645
HP:0002188	Delayed CNS myelination	3747	KCNC2	OMIM:619913
HP:0002188	Delayed CNS myelination	1213	CLTC	OMIM:617854
HP:0002188	Delayed CNS myelination	91461	PKDCC	OMIM:618821
HP:0002188	Delayed CNS myelination	8452	CUL3	OMIM:619239
HP:0002188	Delayed CNS myelination	4329	ALDH6A1	OMIM:614105
HP:0002188	Delayed CNS myelination	3704	ITPA	OMIM:616647
HP:0002188	Delayed CNS myelination	100147744	RNU7-1	OMIM:619487
HP:0002188	Delayed CNS myelination	8567	MADD	OMIM:619004
HP:0002188	Delayed CNS myelination	8567	MADD	OMIM:619005
HP:0002188	Delayed CNS myelination	51124	IER3IP1	OMIM:614231
HP:0002188	Delayed CNS myelination	2566	GABRG2	OMIM:618396
HP:0002188	Delayed CNS myelination	57570	TRMT5	OMIM:616539
HP:0002188	Delayed CNS myelination	9739	SETD1A	OMIM:618832
HP:0002188	Delayed CNS myelination	6509	SLC1A4	OMIM:616657
HP:0002188	Delayed CNS myelination	8911	CACNA1I	OMIM:620114
HP:0002188	Delayed CNS myelination	617	BCS1L	OMIM:124000
HP:0002188	Delayed CNS myelination	95	ACY1	OMIM:609924
HP:0002188	Delayed CNS myelination	6529	SLC6A1	OMIM:616421
HP:0002188	Delayed CNS myelination	23154	NCDN	OMIM:619373
HP:0002188	Delayed CNS myelination	5455	POU3F3	OMIM:618604
HP:0002188	Delayed CNS myelination	5430	POLR2A	OMIM:618603
HP:0002188	Delayed CNS myelination	81615	TMEM163	OMIM:620243
HP:0002188	Delayed CNS myelination	9939	RBM8A	OMIM:274000
HP:0002188	Delayed CNS myelination	124454	EARS2	OMIM:614924
HP:0002188	Delayed CNS myelination	10079	ATP9A	OMIM:620242
HP:0002188	Delayed CNS myelination	2801	GOLGA2	OMIM:620240
HP:0002188	Delayed CNS myelination	64802	NMNAT1	OMIM:619260
HP:0002188	Delayed CNS myelination	29928	TIMM22	OMIM:618851
HP:0002188	Delayed CNS myelination	51733	UPB1	OMIM:613161
HP:0002188	Delayed CNS myelination	57647	DHX37	OMIM:618731
HP:0002188	Delayed CNS myelination	23404	EXOSC2	OMIM:617763
HP:0002188	Delayed CNS myelination	7543	ZFX	OMIM:301118
HP:0002188	Delayed CNS myelination	221692	PHACTR1	OMIM:618298
HP:0002188	Delayed CNS myelination	10464	PIBF1	OMIM:617767
HP:0002188	Delayed CNS myelination	221927	BRAT1	OMIM:614498
HP:0002188	Delayed CNS myelination	9373	PLAA	OMIM:617527
HP:0009803	Short phalanx of finger	2778	GNAS	ORPHA:79445
HP:0009803	Short phalanx of finger	9698	PUM1	OMIM:620719
HP:0009803	Short phalanx of finger	10743	RAI1	OMIM:182290
HP:0009803	Short phalanx of finger	7021	TFAP2B	ORPHA:46627
HP:0009803	Short phalanx of finger	3481	IGF2	OMIM:180860
HP:0009803	Short phalanx of finger	51199	NIN	ORPHA:319675
HP:0009803	Short phalanx of finger	51199	NIN	OMIM:614851
HP:0009803	Short phalanx of finger	7474	WNT5A	OMIM:180700
HP:0009803	Short phalanx of finger	22827	PUF60	ORPHA:508488
HP:0009803	Short phalanx of finger	6910	TBX5	OMIM:142900
HP:0009803	Short phalanx of finger	10847	SRCAP	OMIM:136140
HP:0009803	Short phalanx of finger	2077	ERF	OMIM:617180
HP:0009803	Short phalanx of finger	860	RUNX2	OMIM:119600
HP:0009803	Short phalanx of finger	860	RUNX2	OMIM:156510
HP:0009803	Short phalanx of finger	2783	GNB2	OMIM:619503
HP:0009803	Short phalanx of finger	2697	GJA1	OMIM:164200
HP:0009803	Short phalanx of finger	5932	RBBP8	OMIM:251255
HP:0009803	Short phalanx of finger	10236	HNRNPR	OMIM:620073
HP:0009803	Short phalanx of finger	57492	ARID1B	OMIM:135900
HP:0009803	Short phalanx of finger	6598	SMARCB1	OMIM:614608
HP:0009803	Short phalanx of finger	59341	TRPV4	OMIM:606835
HP:0009803	Short phalanx of finger	59341	TRPV4	ORPHA:93314
HP:0009803	Short phalanx of finger	59341	TRPV4	ORPHA:85169
HP:0009803	Short phalanx of finger	55777	MBD5	OMIM:156200
HP:0009803	Short phalanx of finger	4613	MYCN	ORPHA:391641
HP:0009803	Short phalanx of finger	4613	MYCN	OMIM:620748
HP:0009803	Short phalanx of finger	4613	MYCN	OMIM:164280
HP:0009803	Short phalanx of finger	1300	COL10A1	OMIM:156500
HP:0009803	Short phalanx of finger	650	BMP2	ORPHA:93396
HP:0009803	Short phalanx of finger	2261	FGFR3	ORPHA:15
HP:0009803	Short phalanx of finger	2261	FGFR3	OMIM:602849
HP:0009803	Short phalanx of finger	5422	POLA1	OMIM:301030
HP:0009803	Short phalanx of finger	9896	FIG4	ORPHA:3472
HP:0009803	Short phalanx of finger	55697	VAC14	ORPHA:3472
HP:0009803	Short phalanx of finger	652	BMP4	OMIM:607932
HP:0009803	Short phalanx of finger	3549	IHH	OMIM:607778
HP:0009803	Short phalanx of finger	3549	IHH	ORPHA:93388
HP:0009803	Short phalanx of finger	4920	ROR2	OMIM:113000
HP:0009803	Short phalanx of finger	8085	KMT2D	ORPHA:2322
HP:0009803	Short phalanx of finger	7403	KDM6A	ORPHA:2322
HP:0009803	Short phalanx of finger	25871	NEPRO	OMIM:618853
HP:0009803	Short phalanx of finger	51053	GMNN	OMIM:616835
HP:0009803	Short phalanx of finger	5116	PCNT	OMIM:210720
HP:0009803	Short phalanx of finger	22995	CEP152	OMIM:613823
HP:0009803	Short phalanx of finger	57572	DOCK6	OMIM:614219
HP:0009803	Short phalanx of finger	55081	IFT57	OMIM:617927
HP:0009803	Short phalanx of finger	407975	MIR17HG	ORPHA:391646
HP:0009803	Short phalanx of finger	2263	FGFR2	OMIM:101600
HP:0009803	Short phalanx of finger	84295	PHF6	OMIM:301900
HP:0009803	Short phalanx of finger	9451	EIF2AK3	OMIM:226980
HP:0009803	Short phalanx of finger	84992	PIGY	ORPHA:247262
HP:0009803	Short phalanx of finger	84992	PIGY	OMIM:616809
HP:0009803	Short phalanx of finger	84720	PIGO	ORPHA:247262
HP:0009803	Short phalanx of finger	84720	PIGO	OMIM:614749
HP:0009803	Short phalanx of finger	93210	PGAP3	ORPHA:247262
HP:0009803	Short phalanx of finger	93210	PGAP3	OMIM:615716
HP:0009803	Short phalanx of finger	284098	PIGW	ORPHA:247262
HP:0009803	Short phalanx of finger	27315	PGAP2	ORPHA:247262
HP:0009803	Short phalanx of finger	27315	PGAP2	OMIM:614207
HP:0009803	Short phalanx of finger	9487	PIGL	ORPHA:247262
HP:0009803	Short phalanx of finger	57020	VPS35L	OMIM:619135
HP:0009803	Short phalanx of finger	2972	BRF1	OMIM:616202
HP:0009803	Short phalanx of finger	29929	ALG6	ORPHA:79320
HP:0009803	Short phalanx of finger	2737	GLI3	OMIM:146510
HP:0009803	Short phalanx of finger	5447	POR	ORPHA:95699
HP:0009803	Short phalanx of finger	56992	KIF15	ORPHA:261323
HP:0009803	Short phalanx of finger	2122	MECOM	OMIM:616738
HP:0009803	Short phalanx of finger	27152	INTU	OMIM:617926
HP:0009803	Short phalanx of finger	57167	SALL4	ORPHA:959
HP:0009803	Short phalanx of finger	5293	PIK3CD	ORPHA:221139
HP:0009803	Short phalanx of finger	90417	KNSTRN	ORPHA:221139
HP:0009803	Short phalanx of finger	5727	PTCH1	OMIM:109400
HP:0009803	Short phalanx of finger	1311	COMP	ORPHA:750
HP:0009803	Short phalanx of finger	1311	COMP	OMIM:177170
HP:0009803	Short phalanx of finger	1311	COMP	OMIM:132400
HP:0009803	Short phalanx of finger	2137	EXTL3	ORPHA:508533
HP:0009803	Short phalanx of finger	9361	LONP1	OMIM:600373
HP:0009803	Short phalanx of finger	4921	DDR2	OMIM:271665
HP:0009803	Short phalanx of finger	1280	COL2A1	OMIM:132450
HP:0009803	Short phalanx of finger	8200	GDF5	OMIM:200700
HP:0009803	Short phalanx of finger	8200	GDF5	OMIM:228900
HP:0009803	Short phalanx of finger	64840	PORCN	OMIM:305600
HP:0009803	Short phalanx of finger	54808	DYM	OMIM:607326
HP:0009803	Short phalanx of finger	4882	NPR2	OMIM:602875
HP:0009803	Short phalanx of finger	10269	ZMPSTE24	OMIM:608612
HP:0009803	Short phalanx of finger	63895	PIEZO2	OMIM:114300
HP:0009803	Short phalanx of finger	3590	IL11RA	OMIM:614188
HP:0009803	Short phalanx of finger	1763	DNA2	OMIM:620819
HP:0009803	Short phalanx of finger	9401	RECQL4	ORPHA:221016
HP:0009803	Short phalanx of finger	5593	PRKG2	OMIM:619636
HP:0009803	Short phalanx of finger	55733	HHAT	OMIM:600092
HP:0009803	Short phalanx of finger	55733	HHAT	ORPHA:1422
HP:0009803	Short phalanx of finger	1836	SLC26A2	ORPHA:56304
HP:0009803	Short phalanx of finger	1302	COL11A2	OMIM:215150
HP:0009803	Short phalanx of finger	1302	COL11A2	ORPHA:1427
HP:0009803	Short phalanx of finger	3636	INPPL1	OMIM:258480
HP:0009803	Short phalanx of finger	285590	SH3PXD2B	OMIM:249420
HP:0009803	Short phalanx of finger	9321	TRIP11	OMIM:184260
HP:0009803	Short phalanx of finger	1857	DVL3	OMIM:616894
HP:0009803	Short phalanx of finger	5130	PCYT1A	ORPHA:85167
HP:0009803	Short phalanx of finger	51098	IFT52	OMIM:617102
HP:0009803	Short phalanx of finger	5139	PDE3A	ORPHA:1276
HP:0009803	Short phalanx of finger	5139	PDE3A	OMIM:112410
HP:0009803	Short phalanx of finger	6662	SOX9	OMIM:114290
HP:0009803	Short phalanx of finger	25782	RAB3GAP2	OMIM:212720
HP:0009803	Short phalanx of finger	3239	HOXD13	OMIM:610713
HP:0009803	Short phalanx of finger	4297	KMT2A	OMIM:605130
HP:0009803	Short phalanx of finger	3417	IDH1	ORPHA:99646
HP:0009803	Short phalanx of finger	9759	HDAC4	OMIM:600430
HP:0009803	Short phalanx of finger	3930	LBR	OMIM:215140
HP:0009803	Short phalanx of finger	4810	NHS	OMIM:302350
HP:0009803	Short phalanx of finger	9469	CHST3	OMIM:143095
HP:0009803	Short phalanx of finger	23522	KAT6B	OMIM:606170
HP:0009803	Short phalanx of finger	2260	FGFR1	OMIM:166250
HP:0009803	Short phalanx of finger	64131	XYLT1	OMIM:615777
HP:0009803	Short phalanx of finger	1788	DNMT3A	OMIM:618724
HP:0009803	Short phalanx of finger	2316	FLNA	ORPHA:1826
HP:0009803	Short phalanx of finger	6885	MAP3K7	ORPHA:1826
HP:0009803	Short phalanx of finger	3759	KCNJ2	OMIM:170390
HP:0009803	Short phalanx of finger	9939	RBM8A	OMIM:274000
HP:0009803	Short phalanx of finger	1807	DPYS	OMIM:222748
HP:0009803	Short phalanx of finger	658	BMPR1B	OMIM:609441
HP:0009803	Short phalanx of finger	5745	PTH1R	ORPHA:79106
HP:0009803	Short phalanx of finger	6595	SMARCA2	OMIM:601358
HP:0009803	Short phalanx of finger	633	BGN	OMIM:300106
HP:0009803	Short phalanx of finger	9509	ADAMTS2	OMIM:225410
HP:0009803	Short phalanx of finger	9742	IFT140	OMIM:266920
HP:0009803	Short phalanx of finger	375056	MIA3	OMIM:619269
HP:0009803	Short phalanx of finger	3977	LIFR	OMIM:601559
HP:0009803	Short phalanx of finger	9775	EIF4A3	OMIM:268305
HP:0009803	Short phalanx of finger	54101	RIPK4	OMIM:263650
HP:0009803	Short phalanx of finger	83452	RAB33B	OMIM:615222
HP:0009803	Short phalanx of finger	91252	SLC39A13	OMIM:612350
HP:0009803	Short phalanx of finger	5144	PDE4D	ORPHA:439822
HP:0009803	Short phalanx of finger	5144	PDE4D	OMIM:614613
HP:0009803	Short phalanx of finger	5573	PRKAR1A	OMIM:101800
HP:0009803	Short phalanx of finger	7227	TRPS1	OMIM:190351
HP:0009803	Short phalanx of finger	2200	FBN1	OMIM:102370
HP:0009803	Short phalanx of finger	2879	GPX4	OMIM:250220
HP:0009803	Short phalanx of finger	64682	ANAPC1	ORPHA:221008
HP:0009803	Short phalanx of finger	9488	PIGB	OMIM:618580
HP:0009803	Short phalanx of finger	10617	STAMBP	OMIM:614261
HP:0009803	Short phalanx of finger	2335	FN1	ORPHA:93315
HP:0009803	Short phalanx of finger	23556	PIGN	ORPHA:2059
HP:0009803	Short phalanx of finger	23556	PIGN	OMIM:614080
HP:0009803	Short phalanx of finger	10973	ASCC3	OMIM:620700
HP:0009803	Short phalanx of finger	90459	ERI1	OMIM:620662
HP:0009803	Short phalanx of finger	51412	ACTL6B	OMIM:618470
HP:0009803	Short phalanx of finger	9241	NOG	OMIM:184460
HP:0009803	Short phalanx of finger	9241	NOG	ORPHA:140908
HP:0009803	Short phalanx of finger	9241	NOG	OMIM:611377
HP:0009803	Short phalanx of finger	57465	TBC1D24	OMIM:220500
HP:0009803	Short phalanx of finger	57465	TBC1D24	ORPHA:79500
HP:0009803	Short phalanx of finger	613	BCR	ORPHA:261330
HP:0009803	Short phalanx of finger	1399	CRKL	ORPHA:261330
HP:0009803	Short phalanx of finger	5594	MAPK1	ORPHA:261330
HP:0009803	Short phalanx of finger	1855	DVL1	OMIM:616331
HP:0009803	Short phalanx of finger	55784	MCTP2	ORPHA:1596
HP:0009803	Short phalanx of finger	4000	LMNA	OMIM:248370
HP:0009803	Short phalanx of finger	4000	LMNA	ORPHA:90153
HP:0009803	Short phalanx of finger	5744	PTHLH	ORPHA:93387
HP:0009803	Short phalanx of finger	3764	KCNJ8	ORPHA:1517
HP:0009803	Short phalanx of finger	10060	ABCC9	ORPHA:1517
HP:0009803	Short phalanx of finger	57539	WDR35	ORPHA:1515
HP:0009803	Short phalanx of finger	57539	WDR35	OMIM:614091
HP:0009803	Short phalanx of finger	112752	IFT43	ORPHA:1515
HP:0009803	Short phalanx of finger	55764	IFT122	ORPHA:1515
HP:0009803	Short phalanx of finger	55764	IFT122	OMIM:218330
HP:0009803	Short phalanx of finger	57728	WDR19	ORPHA:1515
HP:0009803	Short phalanx of finger	57728	WDR19	OMIM:614378
HP:0009803	Short phalanx of finger	6926	TBX3	ORPHA:3138
HP:0009803	Short phalanx of finger	55650	PIGV	OMIM:239300
HP:0009803	Short phalanx of finger	29957	SLC25A24	ORPHA:2963
HP:0009803	Short phalanx of finger	29957	SLC25A24	ORPHA:2095
HP:0009803	Short phalanx of finger	29957	SLC25A24	OMIM:612289
HP:0009803	Short phalanx of finger	4784	NFIX	OMIM:602535
HP:0009803	Short phalanx of finger	24140	FTSJ1	OMIM:309549
HP:0009803	Short phalanx of finger	54496	PRMT7	OMIM:617157
HP:0009803	Short phalanx of finger	3756	KCNH1	OMIM:135500
HP:0009803	Short phalanx of finger	3756	KCNH1	ORPHA:420561
HP:0009803	Short phalanx of finger	3756	KCNH1	OMIM:611816
HP:0009803	Short phalanx of finger	64359	NXN	ORPHA:1507
HP:0009803	Short phalanx of finger	8289	ARID1A	OMIM:614607
HP:0009803	Short phalanx of finger	3209	HOXA13	ORPHA:2438
HP:0009803	Short phalanx of finger	5566	PRKACA	ORPHA:289
HP:0009803	Short phalanx of finger	5567	PRKACB	ORPHA:289
HP:0009803	Short phalanx of finger	2735	GLI1	ORPHA:289
HP:0009803	Short phalanx of finger	2121	EVC	ORPHA:289
HP:0009803	Short phalanx of finger	51626	DYNC2LI1	ORPHA:289
HP:0009803	Short phalanx of finger	132884	EVC2	ORPHA:289
HP:0009803	Short phalanx of finger	2475	MTOR	OMIM:616638
HP:0009803	Short phalanx of finger	9419	CRIPT	OMIM:615789
HP:0009803	Short phalanx of finger	3782	KCNN3	OMIM:618658
HP:0009803	Short phalanx of finger	4853	NOTCH2	ORPHA:955
HP:0009803	Short phalanx of finger	26040	SETBP1	OMIM:269150
HP:0009803	Short phalanx of finger	26040	SETBP1	ORPHA:798
HP:0009803	Short phalanx of finger	2239	GPC4	ORPHA:2662
HP:0009803	Short phalanx of finger	2239	GPC4	OMIM:312870
HP:0009803	Short phalanx of finger	54	ACP5	ORPHA:1855
HP:0009803	Short phalanx of finger	6197	RPS6KA3	ORPHA:192
HP:0009803	Short phalanx of finger	5281	PIGF	OMIM:619356
HP:0009803	Short phalanx of finger	94005	PIGS	OMIM:618143
HP:0009803	Short phalanx of finger	2677	GGCX	OMIM:277450
HP:0009803	Short phalanx of finger	10283	CWC27	OMIM:250410
HP:0009803	Short phalanx of finger	415	ARSL	ORPHA:79345
HP:0009803	Short phalanx of finger	415	ARSL	OMIM:302950
HP:0009803	Short phalanx of finger	526	ATP6V1B2	ORPHA:79500
HP:0009803	Short phalanx of finger	2317	FLNB	ORPHA:503
HP:0009803	Short phalanx of finger	25839	COG4	OMIM:618150
HP:0009803	Short phalanx of finger	26137	ZBTB20	OMIM:259050
HP:0009803	Short phalanx of finger	60401	EDA2R	ORPHA:181
HP:0009803	Short phalanx of finger	1896	EDA	ORPHA:181
HP:0009803	Short phalanx of finger	5159	PDGFRB	OMIM:601812
HP:0009803	Short phalanx of finger	4256	MGP	ORPHA:85202
HP:0009803	Short phalanx of finger	4256	MGP	OMIM:245150
HP:0009803	Short phalanx of finger	28952	CCDC22	OMIM:300963
HP:0009803	Short phalanx of finger	182	JAG1	OMIM:118450
HP:0009803	Short phalanx of finger	7291	TWIST1	OMIM:617746
HP:0009803	Short phalanx of finger	6605	SMARCE1	OMIM:616938
HP:0009803	Short phalanx of finger	3516	RBPJ	ORPHA:974
HP:0009803	Short phalanx of finger	3516	RBPJ	OMIM:614814
HP:0009803	Short phalanx of finger	4851	NOTCH1	ORPHA:974
HP:0009803	Short phalanx of finger	57514	ARHGAP31	ORPHA:974
HP:0009803	Short phalanx of finger	285203	EOGT	ORPHA:974
HP:0009803	Short phalanx of finger	54567	DLL4	ORPHA:974
HP:0009803	Short phalanx of finger	50515	CHST11	OMIM:618167
HP:0009803	Short phalanx of finger	8242	KDM5C	OMIM:300534
HP:0009803	Short phalanx of finger	1186	CLCN7	ORPHA:53
HP:0009803	Short phalanx of finger	2703	GJA8	OMIM:612474
HP:0009803	Short phalanx of finger	2702	GJA5	OMIM:612474
HP:0009803	Short phalanx of finger	2719	GPC3	OMIM:312870
HP:0009803	Short phalanx of finger	6664	SOX11	OMIM:615866
HP:0009803	Short phalanx of finger	25886	POC1A	OMIM:614813
HP:0009803	Short phalanx of finger	865	CBFB	OMIM:620099
HP:0009803	Short phalanx of finger	1009	CDH11	OMIM:211380
HP:0005772	Aplasia/Hypoplasia of the tibia	8200	GDF5	OMIM:200700
HP:0005772	Aplasia/Hypoplasia of the tibia	8200	GDF5	OMIM:201250
HP:0005772	Aplasia/Hypoplasia of the tibia	8200	GDF5	ORPHA:2098
HP:0005772	Aplasia/Hypoplasia of the tibia	153241	CEP120	OMIM:616300
HP:0005772	Aplasia/Hypoplasia of the tibia	10082	GPC6	OMIM:258315
HP:0005772	Aplasia/Hypoplasia of the tibia	1317	SLC31A1	OMIM:620306
HP:0005772	Aplasia/Hypoplasia of the tibia	7355	SLC35A2	ORPHA:356961
HP:0005772	Aplasia/Hypoplasia of the tibia	658	BMPR1B	ORPHA:2098
HP:0005772	Aplasia/Hypoplasia of the tibia	4750	NEK1	ORPHA:2751
HP:0005772	Aplasia/Hypoplasia of the tibia	6473	SHOX	OMIM:127300
HP:0005772	Aplasia/Hypoplasia of the tibia	6473	SHOX	ORPHA:240
HP:0005772	Aplasia/Hypoplasia of the tibia	6473	SHOX	OMIM:249700
HP:0005772	Aplasia/Hypoplasia of the tibia	64093	SMOC1	ORPHA:1106
HP:0005772	Aplasia/Hypoplasia of the tibia	79087	ALG12	OMIM:607143
HP:0005772	Aplasia/Hypoplasia of the tibia	2317	FLNB	ORPHA:56305
HP:0005772	Aplasia/Hypoplasia of the tibia	3549	IHH	OMIM:607778
HP:0005772	Aplasia/Hypoplasia of the tibia	3977	LIFR	OMIM:601559
HP:0005772	Aplasia/Hypoplasia of the tibia	9775	EIF4A3	OMIM:268305
HP:0005772	Aplasia/Hypoplasia of the tibia	27152	INTU	OMIM:617925
HP:0005772	Aplasia/Hypoplasia of the tibia	388015	RTL1	ORPHA:96334
HP:0005772	Aplasia/Hypoplasia of the tibia	8788	DLK1	ORPHA:96334
HP:0005772	Aplasia/Hypoplasia of the tibia	55384	MEG3	ORPHA:96334
HP:0005772	Aplasia/Hypoplasia of the tibia	3911	LAMA5	OMIM:620076
HP:0005772	Aplasia/Hypoplasia of the tibia	29980	DONSON	OMIM:251230
HP:0005772	Aplasia/Hypoplasia of the tibia	2737	GLI3	ORPHA:93322
HP:0005772	Aplasia/Hypoplasia of the tibia	727857	BHLHA9	ORPHA:3329
HP:0005772	Aplasia/Hypoplasia of the tibia	727857	BHLHA9	ORPHA:1986
HP:0005772	Aplasia/Hypoplasia of the tibia	57688	ZSWIM6	ORPHA:1827
HP:0005772	Aplasia/Hypoplasia of the tibia	64327	LMBR1	ORPHA:988
HP:0005772	Aplasia/Hypoplasia of the tibia	6469	SHH	ORPHA:988
HP:0005772	Aplasia/Hypoplasia of the tibia	26123	TCTN3	ORPHA:2753
HP:0005772	Aplasia/Hypoplasia of the tibia	219844	HYLS1	OMIM:236680
HP:0005772	Aplasia/Hypoplasia of the tibia	9361	LONP1	OMIM:600373
HP:0005772	Aplasia/Hypoplasia of the tibia	79659	DYNC2H1	OMIM:613091
HP:0005772	Aplasia/Hypoplasia of the tibia	538	ATP7A	ORPHA:198
HP:0005772	Aplasia/Hypoplasia of the tibia	5307	PITX1	OMIM:119800
HP:0005772	Aplasia/Hypoplasia of the tibia	55636	CHD7	OMIM:214800
HP:0005773	Short forearm	6910	TBX5	OMIM:142900
HP:0005773	Short forearm	9939	RBM8A	OMIM:274000
HP:0009162	Absent middle phalanx of 5th finger	2697	GJA1	OMIM:186100
HP:0009162	Absent middle phalanx of 5th finger	526	ATP6V1B2	OMIM:124480
HP:0009162	Absent middle phalanx of 5th finger	9742	IFT140	OMIM:266920
HP:0005775	Multiple skeletal anomalies	9401	RECQL4	ORPHA:221016
HP:0005775	Multiple skeletal anomalies	6399	TRAPPC2	ORPHA:93284
HP:0005775	Multiple skeletal anomalies	246329	STAC3	OMIM:255995
HP:0005775	Multiple skeletal anomalies	64682	ANAPC1	ORPHA:221008
HP:0005872	Brachytelomesophalangy	59341	TRPV4	OMIM:606835
HP:0010239	Aplasia of the middle phalanx of the hand	2697	GJA1	OMIM:186100
HP:0010239	Aplasia of the middle phalanx of the hand	526	ATP6V1B2	OMIM:124480
HP:0010239	Aplasia of the middle phalanx of the hand	9742	IFT140	OMIM:266920
HP:0010239	Aplasia of the middle phalanx of the hand	50814	NSDHL	OMIM:308050
HP:0010239	Aplasia of the middle phalanx of the hand	9896	FIG4	OMIM:216340
HP:0010239	Aplasia of the middle phalanx of the hand	2263	FGFR2	OMIM:149730
HP:0010239	Aplasia of the middle phalanx of the hand	1954	MEGF8	OMIM:614976
HP:0010239	Aplasia of the middle phalanx of the hand	4000	LMNA	OMIM:610140
HP:0011400	Abnormal CNS myelination	199857	ALG14	OMIM:619031
HP:0011400	Abnormal CNS myelination	199857	ALG14	OMIM:619036
HP:0011400	Abnormal CNS myelination	9131	AIFM1	OMIM:300232
HP:0011400	Abnormal CNS myelination	26235	FBXL4	OMIM:615471
HP:0011400	Abnormal CNS myelination	8367	H4C5	OMIM:619950
HP:0011400	Abnormal CNS myelination	104	ADARB1	OMIM:618862
HP:0011400	Abnormal CNS myelination	375	ARF1	OMIM:618185
HP:0011400	Abnormal CNS myelination	2775	GNAO1	OMIM:615473
HP:0011400	Abnormal CNS myelination	2775	GNAO1	OMIM:617493
HP:0011400	Abnormal CNS myelination	6873	TAF2	OMIM:615599
HP:0011400	Abnormal CNS myelination	3145	HMBS	OMIM:620704
HP:0011400	Abnormal CNS myelination	10059	DNM1L	OMIM:614388
HP:0011400	Abnormal CNS myelination	55823	VPS11	ORPHA:466934
HP:0011400	Abnormal CNS myelination	23417	MLYCD	OMIM:248360
HP:0011400	Abnormal CNS myelination	4897	NRCAM	OMIM:619833
HP:0011400	Abnormal CNS myelination	347734	SLC35B2	OMIM:620269
HP:0011400	Abnormal CNS myelination	81570	CLPB	OMIM:619835
HP:0011400	Abnormal CNS myelination	51343	FZR1	OMIM:620145
HP:0011400	Abnormal CNS myelination	23126	POGZ	ORPHA:468678
HP:0011400	Abnormal CNS myelination	23126	POGZ	OMIM:616364
HP:0011400	Abnormal CNS myelination	51741	WWOX	OMIM:616211
HP:0011400	Abnormal CNS myelination	51506	UFC1	OMIM:618076
HP:0011400	Abnormal CNS myelination	283489	CHAMP1	OMIM:616579
HP:0011400	Abnormal CNS myelination	387787	LIPT2	OMIM:617668
HP:0011400	Abnormal CNS myelination	57465	TBC1D24	ORPHA:352596
HP:0011400	Abnormal CNS myelination	4010	LMX1B	ORPHA:495818
HP:0011400	Abnormal CNS myelination	6812	STXBP1	ORPHA:495818
HP:0011400	Abnormal CNS myelination	6812	STXBP1	OMIM:612164
HP:0011400	Abnormal CNS myelination	478	ATP1A3	OMIM:619606
HP:0011400	Abnormal CNS myelination	166378	AFG2A	OMIM:616577
HP:0011400	Abnormal CNS myelination	65082	VPS33A	OMIM:617303
HP:0011400	Abnormal CNS myelination	10730	YME1L1	OMIM:617302
HP:0011400	Abnormal CNS myelination	375387	NRROS	OMIM:618875
HP:0011400	Abnormal CNS myelination	80055	PGAP1	OMIM:615802
HP:0011400	Abnormal CNS myelination	5610	EIF2AK2	OMIM:618877
HP:0011400	Abnormal CNS myelination	3781	KCNN2	OMIM:619725
HP:0011400	Abnormal CNS myelination	9915	ARNT2	OMIM:615926
HP:0011400	Abnormal CNS myelination	57582	KCNT1	OMIM:614959
HP:0011400	Abnormal CNS myelination	79693	YRDC	OMIM:619609
HP:0011400	Abnormal CNS myelination	7175	TPR	OMIM:620393
HP:0011400	Abnormal CNS myelination	57492	ARID1B	OMIM:135900
HP:0011400	Abnormal CNS myelination	55870	ASH1L	OMIM:617796
HP:0011400	Abnormal CNS myelination	6884	TAF13	OMIM:617432
HP:0011400	Abnormal CNS myelination	7528	YY1	OMIM:617557
HP:0011400	Abnormal CNS myelination	6573	SLC19A1	OMIM:620603
HP:0011400	Abnormal CNS myelination	5191	PEX7	OMIM:215100
HP:0011400	Abnormal CNS myelination	501	ALDH7A1	ORPHA:3006
HP:0011400	Abnormal CNS myelination	11212	PLPBP	ORPHA:3006
HP:0011400	Abnormal CNS myelination	652	BMP4	OMIM:607932
HP:0011400	Abnormal CNS myelination	1656	DDX6	OMIM:618653
HP:0011400	Abnormal CNS myelination	55703	POLR3B	OMIM:619742
HP:0011400	Abnormal CNS myelination	497661	C18orf32	OMIM:619985
HP:0011400	Abnormal CNS myelination	23327	NEDD4L	OMIM:617201
HP:0011400	Abnormal CNS myelination	132158	GLYCTK	OMIM:220120
HP:0011400	Abnormal CNS myelination	833	CARS1	OMIM:618891
HP:0011400	Abnormal CNS myelination	57178	ZMIZ1	OMIM:618659
HP:0011400	Abnormal CNS myelination	2783	GNB2	OMIM:619503
HP:0011400	Abnormal CNS myelination	25942	SIN3A	OMIM:613406
HP:0011400	Abnormal CNS myelination	26834	RNU4-2	OMIM:620851
HP:0011400	Abnormal CNS myelination	7915	ALDH5A1	OMIM:271980
HP:0011400	Abnormal CNS myelination	27245	AHDC1	OMIM:615829
HP:0011400	Abnormal CNS myelination	1499	CTNNB1	ORPHA:404473
HP:0011400	Abnormal CNS myelination	9653	HS2ST1	OMIM:619194
HP:0011400	Abnormal CNS myelination	5518	PPP2R1A	OMIM:616362
HP:0011400	Abnormal CNS myelination	1186	CLCN7	OMIM:618541
HP:0011400	Abnormal CNS myelination	55768	NGLY1	OMIM:615273
HP:0011400	Abnormal CNS myelination	1182	CLCN3	OMIM:619512
HP:0011400	Abnormal CNS myelination	1182	CLCN3	OMIM:619517
HP:0011400	Abnormal CNS myelination	149371	EXOC8	OMIM:619076
HP:0011400	Abnormal CNS myelination	54914	FOCAD	OMIM:619991
HP:0011400	Abnormal CNS myelination	56006	SMG9	OMIM:616920
HP:0011400	Abnormal CNS myelination	116115	ZNF526	OMIM:619877
HP:0011400	Abnormal CNS myelination	4191	MDH2	OMIM:617339
HP:0011400	Abnormal CNS myelination	83475	DOHH	OMIM:620066
HP:0011400	Abnormal CNS myelination	6609	SMPD1	OMIM:257200
HP:0011400	Abnormal CNS myelination	728294	D2HGDH	OMIM:600721
HP:0011400	Abnormal CNS myelination	9276	COPB2	OMIM:619884
HP:0011400	Abnormal CNS myelination	9276	COPB2	OMIM:617800
HP:0011400	Abnormal CNS myelination	7358	UGDH	OMIM:618792
HP:0011400	Abnormal CNS myelination	113179	ADAT3	OMIM:615286
HP:0011400	Abnormal CNS myelination	4849	CNOT3	OMIM:618672
HP:0011400	Abnormal CNS myelination	6506	SLC1A2	OMIM:617105
HP:0011400	Abnormal CNS myelination	9440	MED17	OMIM:613668
HP:0011400	Abnormal CNS myelination	25828	TXN2	OMIM:616811
HP:0011400	Abnormal CNS myelination	10430	TMEM147	OMIM:620075
HP:0011400	Abnormal CNS myelination	22880	MORC2	OMIM:619090
HP:0011400	Abnormal CNS myelination	4677	NARS1	OMIM:619091
HP:0011400	Abnormal CNS myelination	7143	TNR	OMIM:619653
HP:0011400	Abnormal CNS myelination	7355	SLC35A2	OMIM:300896
HP:0011400	Abnormal CNS myelination	55120	FANCL	OMIM:614083
HP:0011400	Abnormal CNS myelination	197258	FCSK	OMIM:618324
HP:0011400	Abnormal CNS myelination	85365	ALG2	OMIM:607906
HP:0011400	Abnormal CNS myelination	3798	KIF5A	OMIM:617235
HP:0011400	Abnormal CNS myelination	27086	FOXP1	OMIM:613670
HP:0011400	Abnormal CNS myelination	8218	CLTCL1	ORPHA:453510
HP:0011400	Abnormal CNS myelination	25836	NIPBL	OMIM:122470
HP:0011400	Abnormal CNS myelination	9725	TMEM63A	OMIM:618688
HP:0011400	Abnormal CNS myelination	23219	FBXO28	OMIM:619777
HP:0011400	Abnormal CNS myelination	50628	GEMIN4	OMIM:617913
HP:0011400	Abnormal CNS myelination	2146	EZH2	OMIM:277590
HP:0011400	Abnormal CNS myelination	84978	FRMD5	OMIM:620094
HP:0011400	Abnormal CNS myelination	404672	GTF2H5	OMIM:616395
HP:0011400	Abnormal CNS myelination	51645	PPIL1	OMIM:619301
HP:0011400	Abnormal CNS myelination	8295	TRRAP	OMIM:618454
HP:0011400	Abnormal CNS myelination	10159	ATP6AP2	OMIM:300423
HP:0011400	Abnormal CNS myelination	7040	TGFB1	OMIM:618213
HP:0011400	Abnormal CNS myelination	51362	CDC40	OMIM:619302
HP:0011400	Abnormal CNS myelination	58497	PRUNE1	OMIM:617481
HP:0011400	Abnormal CNS myelination	133686	NADK2	OMIM:616034
HP:0011400	Abnormal CNS myelination	51693	TRAPPC2L	OMIM:618331
HP:0011400	Abnormal CNS myelination	84188	FAR1	OMIM:616154
HP:0011400	Abnormal CNS myelination	27133	KCNH5	OMIM:620537
HP:0011400	Abnormal CNS myelination	5813	PURA	OMIM:616158
HP:0011400	Abnormal CNS myelination	22907	DHX30	OMIM:617804
HP:0011400	Abnormal CNS myelination	11338	U2AF2	OMIM:620535
HP:0011400	Abnormal CNS myelination	51013	EXOSC1	OMIM:619304
HP:0011400	Abnormal CNS myelination	5910	RAP1GDS1	OMIM:620655
HP:0011400	Abnormal CNS myelination	2744	GLS	OMIM:618339
HP:0011400	Abnormal CNS myelination	81603	TRIM8	OMIM:619428
HP:0011400	Abnormal CNS myelination	339453	TMEM240	OMIM:607454
HP:0011400	Abnormal CNS myelination	9230	RAB11B	OMIM:617807
HP:0011400	Abnormal CNS myelination	55906	ZC4H2	OMIM:301041
HP:0011400	Abnormal CNS myelination	79876	UBA5	OMIM:617132
HP:0011400	Abnormal CNS myelination	30000	TNPO2	OMIM:619556
HP:0011400	Abnormal CNS myelination	2187	FANCB	OMIM:300514
HP:0011400	Abnormal CNS myelination	2290	FOXG1	OMIM:613454
HP:0011400	Abnormal CNS myelination	54973	INTS11	OMIM:620428
HP:0011400	Abnormal CNS myelination	83548	COG3	OMIM:620546
HP:0011400	Abnormal CNS myelination	51412	ACTL6B	OMIM:618468
HP:0011400	Abnormal CNS myelination	55746	NUP133	OMIM:618349
HP:0011400	Abnormal CNS myelination	85358	SHANK3	OMIM:606232
HP:0011400	Abnormal CNS myelination	79796	ALG9	OMIM:608776
HP:0011400	Abnormal CNS myelination	23028	KDM1A	OMIM:616728
HP:0011400	Abnormal CNS myelination	170302	ARX	OMIM:308350
HP:0011400	Abnormal CNS myelination	128869	PIGU	OMIM:618590
HP:0011400	Abnormal CNS myelination	7707	ZNF148	OMIM:617260
HP:0011400	Abnormal CNS myelination	5515	PPP2CA	OMIM:618354
HP:0011400	Abnormal CNS myelination	6567	SLC16A2	OMIM:300523
HP:0011400	Abnormal CNS myelination	79868	ALG13	OMIM:300884
HP:0011400	Abnormal CNS myelination	51601	LIPT1	OMIM:616299
HP:0011400	Abnormal CNS myelination	473	RERE	OMIM:616975
HP:0011400	Abnormal CNS myelination	7453	WARS1	OMIM:620317
HP:0011400	Abnormal CNS myelination	6513	SLC2A1	OMIM:608885
HP:0011400	Abnormal CNS myelination	23097	CDK19	OMIM:618916
HP:0011400	Abnormal CNS myelination	16	AARS1	OMIM:619691
HP:0011400	Abnormal CNS myelination	10588	MTHFS	OMIM:618367
HP:0011400	Abnormal CNS myelination	23221	RHOBTB2	OMIM:618004
HP:0011400	Abnormal CNS myelination	63925	ZNF335	OMIM:615095
HP:0011400	Abnormal CNS myelination	22930	RAB3GAP1	OMIM:600118
HP:0011400	Abnormal CNS myelination	112939	NACC1	OMIM:617393
HP:0011400	Abnormal CNS myelination	54496	PRMT7	OMIM:617157
HP:0011400	Abnormal CNS myelination	5530	PPP3CA	OMIM:617711
HP:0011400	Abnormal CNS myelination	10352	WARS2	OMIM:617710
HP:0011400	Abnormal CNS myelination	23511	NUP188	OMIM:618804
HP:0011400	Abnormal CNS myelination	26007	TKFC	OMIM:618805
HP:0011400	Abnormal CNS myelination	4358	MPV17	OMIM:256810
HP:0011400	Abnormal CNS myelination	3054	HCFC1	OMIM:309541
HP:0011400	Abnormal CNS myelination	3183	HNRNPC	OMIM:620688
HP:0011400	Abnormal CNS myelination	51608	GET4	OMIM:620200
HP:0011400	Abnormal CNS myelination	4594	MMUT	OMIM:251000
HP:0011400	Abnormal CNS myelination	2898	GRIK2	OMIM:619580
HP:0011400	Abnormal CNS myelination	11342	RNF13	OMIM:618379
HP:0011400	Abnormal CNS myelination	9758	FRMPD4	OMIM:300983
HP:0011400	Abnormal CNS myelination	4761	NEUROD2	OMIM:618374
HP:0011400	Abnormal CNS myelination	54664	TMEM106B	OMIM:617964
HP:0011400	Abnormal CNS myelination	6785	ELOVL4	OMIM:614457
HP:0011400	Abnormal CNS myelination	8883	NAE1	OMIM:620210
HP:0011400	Abnormal CNS myelination	64864	RFX7	OMIM:620330
HP:0011400	Abnormal CNS myelination	9997	SCO2	OMIM:604377
HP:0011400	Abnormal CNS myelination	8943	AP3D1	OMIM:617050
HP:0011400	Abnormal CNS myelination	51095	TRNT1	OMIM:616084
HP:0011400	Abnormal CNS myelination	51501	HIKESHI	OMIM:616881
HP:0011400	Abnormal CNS myelination	94005	PIGS	OMIM:618143
HP:0011400	Abnormal CNS myelination	57468	SLC12A5	OMIM:616645
HP:0011400	Abnormal CNS myelination	3747	KCNC2	OMIM:619913
HP:0011400	Abnormal CNS myelination	1213	CLTC	OMIM:617854
HP:0011400	Abnormal CNS myelination	91461	PKDCC	OMIM:618821
HP:0011400	Abnormal CNS myelination	8452	CUL3	OMIM:619239
HP:0011400	Abnormal CNS myelination	4329	ALDH6A1	OMIM:614105
HP:0011400	Abnormal CNS myelination	3704	ITPA	OMIM:616647
HP:0011400	Abnormal CNS myelination	100147744	RNU7-1	OMIM:619487
HP:0011400	Abnormal CNS myelination	8567	MADD	OMIM:619004
HP:0011400	Abnormal CNS myelination	8567	MADD	OMIM:619005
HP:0011400	Abnormal CNS myelination	51124	IER3IP1	OMIM:614231
HP:0011400	Abnormal CNS myelination	2566	GABRG2	OMIM:618396
HP:0011400	Abnormal CNS myelination	57570	TRMT5	OMIM:616539
HP:0011400	Abnormal CNS myelination	9739	SETD1A	OMIM:618832
HP:0011400	Abnormal CNS myelination	6509	SLC1A4	OMIM:616657
HP:0011400	Abnormal CNS myelination	8911	CACNA1I	OMIM:620114
HP:0011400	Abnormal CNS myelination	617	BCS1L	OMIM:124000
HP:0011400	Abnormal CNS myelination	95	ACY1	OMIM:609924
HP:0011400	Abnormal CNS myelination	6529	SLC6A1	OMIM:616421
HP:0011400	Abnormal CNS myelination	23154	NCDN	OMIM:619373
HP:0011400	Abnormal CNS myelination	5455	POU3F3	OMIM:618604
HP:0011400	Abnormal CNS myelination	5430	POLR2A	OMIM:618603
HP:0011400	Abnormal CNS myelination	81615	TMEM163	OMIM:620243
HP:0011400	Abnormal CNS myelination	9939	RBM8A	OMIM:274000
HP:0011400	Abnormal CNS myelination	124454	EARS2	OMIM:614924
HP:0011400	Abnormal CNS myelination	10079	ATP9A	OMIM:620242
HP:0011400	Abnormal CNS myelination	2801	GOLGA2	OMIM:620240
HP:0011400	Abnormal CNS myelination	64802	NMNAT1	OMIM:619260
HP:0011400	Abnormal CNS myelination	29928	TIMM22	OMIM:618851
HP:0011400	Abnormal CNS myelination	51733	UPB1	OMIM:613161
HP:0011400	Abnormal CNS myelination	57647	DHX37	OMIM:618731
HP:0011400	Abnormal CNS myelination	23404	EXOSC2	OMIM:617763
HP:0011400	Abnormal CNS myelination	7543	ZFX	OMIM:301118
HP:0011400	Abnormal CNS myelination	221692	PHACTR1	OMIM:618298
HP:0011400	Abnormal CNS myelination	10464	PIBF1	OMIM:617767
HP:0011400	Abnormal CNS myelination	221927	BRAT1	OMIM:614498
HP:0011400	Abnormal CNS myelination	9373	PLAA	OMIM:617527
HP:0011400	Abnormal CNS myelination	3735	KARS1	OMIM:619196
HP:0011400	Abnormal CNS myelination	5091	PC	OMIM:266150
HP:0011400	Abnormal CNS myelination	54539	NDUFB11	ORPHA:2609
HP:0011400	Abnormal CNS myelination	25915	NDUFAF3	ORPHA:2609
HP:0011400	Abnormal CNS myelination	51103	NDUFAF1	ORPHA:2609
HP:0011400	Abnormal CNS myelination	91942	NDUFAF2	ORPHA:2609
HP:0011400	Abnormal CNS myelination	51300	TIMMDC1	ORPHA:2609
HP:0011400	Abnormal CNS myelination	4716	NDUFB10	ORPHA:2609
HP:0011400	Abnormal CNS myelination	4723	NDUFV1	ORPHA:2609
HP:0011400	Abnormal CNS myelination	4723	NDUFV1	OMIM:618225
HP:0011400	Abnormal CNS myelination	55572	FOXRED1	ORPHA:2609
HP:0011400	Abnormal CNS myelination	284184	NDUFAF8	ORPHA:2609
HP:0011400	Abnormal CNS myelination	55863	TMEM126B	ORPHA:2609
HP:0011400	Abnormal CNS myelination	4535	MT-ND1	ORPHA:2609
HP:0011400	Abnormal CNS myelination	4537	MT-ND3	ORPHA:2609
HP:0011400	Abnormal CNS myelination	4729	NDUFV2	ORPHA:2609
HP:0011400	Abnormal CNS myelination	4694	NDUFA1	ORPHA:2609
HP:0011400	Abnormal CNS myelination	4720	NDUFS2	ORPHA:2609
HP:0011400	Abnormal CNS myelination	4724	NDUFS4	ORPHA:2609
HP:0011400	Abnormal CNS myelination	4724	NDUFS4	OMIM:252010
HP:0011400	Abnormal CNS myelination	4726	NDUFS6	ORPHA:2609
HP:0011400	Abnormal CNS myelination	4728	NDUFS8	ORPHA:2609
HP:0011400	Abnormal CNS myelination	4722	NDUFS3	ORPHA:2609
HP:0011400	Abnormal CNS myelination	79133	NDUFAF5	ORPHA:2609
HP:0011400	Abnormal CNS myelination	126328	NDUFA11	ORPHA:2609
HP:0011400	Abnormal CNS myelination	4709	NDUFB3	ORPHA:2609
HP:0011400	Abnormal CNS myelination	80224	NUBPL	ORPHA:2609
HP:0011400	Abnormal CNS myelination	80224	NUBPL	OMIM:618242
HP:0011400	Abnormal CNS myelination	29078	NDUFAF4	ORPHA:2609
HP:0011400	Abnormal CNS myelination	374291	NDUFS7	ORPHA:2609
HP:0011400	Abnormal CNS myelination	4700	NDUFA6	ORPHA:2609
HP:0011400	Abnormal CNS myelination	4536	MT-ND2	ORPHA:2609
HP:0011400	Abnormal CNS myelination	4719	NDUFS1	ORPHA:2609
HP:0011400	Abnormal CNS myelination	4719	NDUFS1	OMIM:618226
HP:0011400	Abnormal CNS myelination	4715	NDUFB9	ORPHA:2609
HP:0011400	Abnormal CNS myelination	410	ARSA	ORPHA:309256
HP:0011400	Abnormal CNS myelination	410	ARSA	ORPHA:309271
HP:0011400	Abnormal CNS myelination	410	ARSA	ORPHA:309263
HP:0011400	Abnormal CNS myelination	5660	PSAP	ORPHA:309256
HP:0011400	Abnormal CNS myelination	5660	PSAP	ORPHA:309271
HP:0011400	Abnormal CNS myelination	5660	PSAP	ORPHA:309263
HP:0011400	Abnormal CNS myelination	11019	LIAS	OMIM:614462
HP:0011400	Abnormal CNS myelination	84504	NKX6-2	ORPHA:527497
HP:0011400	Abnormal CNS myelination	84504	NKX6-2	OMIM:617560
HP:0011400	Abnormal CNS myelination	6711	SPTBN1	OMIM:619475
HP:0011400	Abnormal CNS myelination	81689	ISCA1	OMIM:617613
HP:0011400	Abnormal CNS myelination	9255	AIMP1	OMIM:260600
HP:0011400	Abnormal CNS myelination	64857	PLEKHG2	OMIM:616763
HP:0011400	Abnormal CNS myelination	100996717	NOTCH2NLC	OMIM:618866
HP:0011400	Abnormal CNS myelination	4001	LMNB1	OMIM:169500
HP:0011400	Abnormal CNS myelination	1605	DAG1	ORPHA:370997
HP:0011400	Abnormal CNS myelination	1605	DAG1	OMIM:616538
HP:0011400	Abnormal CNS myelination	11128	POLR3A	ORPHA:447896
HP:0011400	Abnormal CNS myelination	11128	POLR3A	ORPHA:3455
HP:0011400	Abnormal CNS myelination	11128	POLR3A	OMIM:607694
HP:0011400	Abnormal CNS myelination	57165	GJC2	OMIM:608804
HP:0011400	Abnormal CNS myelination	51218	GLRX5	ORPHA:401866
HP:0011400	Abnormal CNS myelination	51218	GLRX5	OMIM:616859
HP:0011400	Abnormal CNS myelination	9533	POLR1C	OMIM:616494
HP:0011400	Abnormal CNS myelination	5189	PEX1	OMIM:601539
HP:0011400	Abnormal CNS myelination	122961	ISCA2	OMIM:616370
HP:0011400	Abnormal CNS myelination	5192	PEX10	OMIM:614871
HP:0011400	Abnormal CNS myelination	9409	PEX16	OMIM:614877
HP:0011400	Abnormal CNS myelination	1910	EDNRB	OMIM:277580
HP:0011400	Abnormal CNS myelination	7284	TUFM	OMIM:610678
HP:0011400	Abnormal CNS myelination	25885	POLR1A	OMIM:620675
HP:0011400	Abnormal CNS myelination	51	ACOX1	OMIM:264470
HP:0011400	Abnormal CNS myelination	1340	COX6B1	OMIM:619051
HP:0011400	Abnormal CNS myelination	57551	TAOK1	OMIM:619575
HP:0011400	Abnormal CNS myelination	56915	EXOSC5	OMIM:619576
HP:0011400	Abnormal CNS myelination	23250	ATP11A	OMIM:619851
HP:0011400	Abnormal CNS myelination	5917	RARS1	OMIM:616140
HP:0011400	Abnormal CNS myelination	727676	SNORD118	OMIM:614561
HP:0011400	Abnormal CNS myelination	29920	PYCR2	OMIM:616420
HP:0011400	Abnormal CNS myelination	103	ADAR	OMIM:615010
HP:0011400	Abnormal CNS myelination	103	ADAR	ORPHA:51
HP:0011400	Abnormal CNS myelination	200205	IBA57	OMIM:615330
HP:0011400	Abnormal CNS myelination	2058	EPRS1	OMIM:617951
HP:0011400	Abnormal CNS myelination	7965	AIMP2	OMIM:618006
HP:0011400	Abnormal CNS myelination	2074	ERCC6	OMIM:278800
HP:0011400	Abnormal CNS myelination	85021	REPS1	OMIM:617916
HP:0011400	Abnormal CNS myelination	3431	SP110	ORPHA:79124
HP:0011400	Abnormal CNS myelination	79053	ALG8	ORPHA:79325
HP:0011400	Abnormal CNS myelination	6390	SDHB	OMIM:619224
HP:0011400	Abnormal CNS myelination	8789	FBP2	OMIM:619864
HP:0011400	Abnormal CNS myelination	18	ABAT	OMIM:613163
HP:0011400	Abnormal CNS myelination	55331	ACER3	OMIM:617762
HP:0011400	Abnormal CNS myelination	80169	CTC1	OMIM:612199
HP:0011400	Abnormal CNS myelination	388962	BOLA3	OMIM:614299
HP:0011400	Abnormal CNS myelination	3329	HSPD1	OMIM:612233
HP:0011400	Abnormal CNS myelination	87178	PNPT1	OMIM:614932
HP:0011400	Abnormal CNS myelination	10535	RNASEH2A	OMIM:610333
HP:0011400	Abnormal CNS myelination	10535	RNASEH2A	ORPHA:51
HP:0011400	Abnormal CNS myelination	84668	HYCC1	OMIM:610532
HP:0011400	Abnormal CNS myelination	25939	SAMHD1	OMIM:612952
HP:0011400	Abnormal CNS myelination	25939	SAMHD1	ORPHA:51
HP:0011400	Abnormal CNS myelination	10382	TUBB4A	OMIM:612438
HP:0011400	Abnormal CNS myelination	84153	RNASEH2C	ORPHA:51
HP:0011400	Abnormal CNS myelination	79621	RNASEH2B	ORPHA:51
HP:0011400	Abnormal CNS myelination	11277	TREX1	ORPHA:51
HP:0011400	Abnormal CNS myelination	134353	LSM11	ORPHA:51
HP:0011400	Abnormal CNS myelination	64135	IFIH1	ORPHA:51
HP:0011400	Abnormal CNS myelination	5297	PI4KA	OMIM:619708
HP:0011400	Abnormal CNS myelination	84705	GTPBP3	ORPHA:444013
HP:0011400	Abnormal CNS myelination	1161	ERCC8	OMIM:216400
HP:0011400	Abnormal CNS myelination	1161	ERCC8	ORPHA:90322
HP:0011400	Abnormal CNS myelination	2067	ERCC1	ORPHA:90322
HP:0011400	Abnormal CNS myelination	1798	DPAGT1	ORPHA:86309
HP:0011400	Abnormal CNS myelination	158	ADSL	OMIM:103050
HP:0011400	Abnormal CNS myelination	10617	STAMBP	OMIM:614261
HP:0011400	Abnormal CNS myelination	91452	ACBD5	OMIM:618863
HP:0011400	Abnormal CNS myelination	8506	CNTNAP1	OMIM:618186
HP:0011400	Abnormal CNS myelination	1859	DYRK1A	ORPHA:268261
HP:0011400	Abnormal CNS myelination	2517	FUCA1	OMIM:230000
HP:0011400	Abnormal CNS myelination	60684	TRAPPC11	OMIM:615356
HP:0011400	Abnormal CNS myelination	55505	NOP10	OMIM:620425
HP:0011400	Abnormal CNS myelination	55627	SMPD4	OMIM:618622
HP:0011400	Abnormal CNS myelination	79753	SNIP1	OMIM:614501
HP:0011400	Abnormal CNS myelination	1119	CHKA	OMIM:620023
HP:0011400	Abnormal CNS myelination	2521	FUS	ORPHA:300605
HP:0011400	Abnormal CNS myelination	80208	SPG11	ORPHA:300605
HP:0011400	Abnormal CNS myelination	10280	SIGMAR1	ORPHA:300605
HP:0011400	Abnormal CNS myelination	10558	SPTLC1	ORPHA:300605
HP:0011400	Abnormal CNS myelination	57679	ALS2	ORPHA:300605
HP:0011400	Abnormal CNS myelination	221496	LEMD2	OMIM:619322
HP:0011400	Abnormal CNS myelination	90522	YIF1B	OMIM:619125
HP:0011400	Abnormal CNS myelination	1615	DARS1	OMIM:615281
HP:0011400	Abnormal CNS myelination	55182	RNF220	OMIM:619688
HP:0011400	Abnormal CNS myelination	3074	HEXB	OMIM:268800
HP:0011400	Abnormal CNS myelination	3074	HEXB	ORPHA:309155
HP:0011400	Abnormal CNS myelination	5859	QARS1	OMIM:615760
HP:0011400	Abnormal CNS myelination	9442	MED27	OMIM:619286
HP:0011400	Abnormal CNS myelination	5591	PRKDC	OMIM:615966
HP:0011400	Abnormal CNS myelination	2555	GABRA2	OMIM:618557
HP:0011400	Abnormal CNS myelination	55152	DALRD3	OMIM:618910
HP:0011400	Abnormal CNS myelination	5010	CLDN11	OMIM:619328
HP:0011400	Abnormal CNS myelination	25973	PARS2	OMIM:618437
HP:0011400	Abnormal CNS myelination	2558	GABRA5	OMIM:618559
HP:0011400	Abnormal CNS myelination	1650	DDOST	ORPHA:300536
HP:0011400	Abnormal CNS myelination	6904	TBCD	OMIM:617193
HP:0011400	Abnormal CNS myelination	10134	BCAP31	ORPHA:369939
HP:0011400	Abnormal CNS myelination	79989	IFT56	OMIM:619534
HP:0011400	Abnormal CNS myelination	9197	SLC33A1	OMIM:614482
HP:0011400	Abnormal CNS myelination	64834	ELOVL1	OMIM:618527
HP:0011400	Abnormal CNS myelination	6709	SPTAN1	OMIM:613477
HP:0011400	Abnormal CNS myelination	5194	PEX13	OMIM:614883
HP:0011400	Abnormal CNS myelination	55005	RMND1	OMIM:614922
HP:0011400	Abnormal CNS myelination	2917	GRM7	OMIM:618922
HP:0011400	Abnormal CNS myelination	8139	GAN	ORPHA:643
HP:0011400	Abnormal CNS myelination	191	AHCY	ORPHA:88618
HP:0011400	Abnormal CNS myelination	205327	C2orf69	OMIM:619423
HP:0011400	Abnormal CNS myelination	5277	PIGA	OMIM:300868
HP:0011400	Abnormal CNS myelination	523	ATP6V1A	OMIM:618012
HP:0011400	Abnormal CNS myelination	2752	GLUL	OMIM:620806
HP:0011400	Abnormal CNS myelination	2752	GLUL	OMIM:610015
HP:0011400	Abnormal CNS myelination	55770	EXOC2	OMIM:619306
HP:0011400	Abnormal CNS myelination	79731	NARS2	OMIM:616239
HP:0011400	Abnormal CNS myelination	26005	C2CD3	OMIM:615948
HP:0011400	Abnormal CNS myelination	54332	GDAP1	OMIM:214400
HP:0011400	Abnormal CNS myelination	27152	INTU	OMIM:617926
HP:0011400	Abnormal CNS myelination	7074	TIAM1	OMIM:619908
HP:0011400	Abnormal CNS myelination	84992	PIGY	ORPHA:247262
HP:0011400	Abnormal CNS myelination	84720	PIGO	ORPHA:247262
HP:0011400	Abnormal CNS myelination	93210	PGAP3	ORPHA:247262
HP:0011400	Abnormal CNS myelination	284098	PIGW	ORPHA:247262
HP:0011400	Abnormal CNS myelination	27315	PGAP2	ORPHA:247262
HP:0011400	Abnormal CNS myelination	55650	PIGV	ORPHA:247262
HP:0011400	Abnormal CNS myelination	9487	PIGL	ORPHA:247262
HP:0011400	Abnormal CNS myelination	160418	TMTC3	OMIM:617255
HP:0011400	Abnormal CNS myelination	1528	CYB5A	ORPHA:621
HP:0011400	Abnormal CNS myelination	1727	CYB5R3	ORPHA:621
HP:0011400	Abnormal CNS myelination	8604	SLC25A12	OMIM:612949
HP:0011400	Abnormal CNS myelination	80232	WDR26	ORPHA:513456
HP:0011400	Abnormal CNS myelination	55157	DARS2	ORPHA:137898
HP:0011400	Abnormal CNS myelination	79152	FA2H	OMIM:612319
HP:0011400	Abnormal CNS myelination	2670	GFAP	OMIM:203450
HP:0011400	Abnormal CNS myelination	5654	HTRA1	OMIM:600142
HP:0011400	Abnormal CNS myelination	54872	PIGG	ORPHA:488635
HP:0011400	Abnormal CNS myelination	25974	MMACHC	ORPHA:79282
HP:0011400	Abnormal CNS myelination	5631	PRPS1	ORPHA:1187
HP:0011400	Abnormal CNS myelination	93587	TRMT10A	ORPHA:391408
HP:0011400	Abnormal CNS myelination	84919	PPP1R15B	ORPHA:391408
HP:0011400	Abnormal CNS myelination	79944	L2HGDH	OMIM:236792
HP:0011400	Abnormal CNS myelination	1513	CTSK	ORPHA:763
HP:0011400	Abnormal CNS myelination	9289	ADGRG1	OMIM:606854
HP:0011400	Abnormal CNS myelination	9289	ADGRG1	ORPHA:101070
HP:0011400	Abnormal CNS myelination	215	ABCD1	ORPHA:139399
HP:0011400	Abnormal CNS myelination	26227	PHGDH	OMIM:601815
HP:0011400	Abnormal CNS myelination	3295	HSD17B4	OMIM:261515
HP:0011400	Abnormal CNS myelination	2068	ERCC2	ORPHA:33364
HP:0011400	Abnormal CNS myelination	7737	RNF113A	ORPHA:33364
HP:0011400	Abnormal CNS myelination	136647	MPLKIP	ORPHA:33364
HP:0011400	Abnormal CNS myelination	6897	TARS1	ORPHA:33364
HP:0011400	Abnormal CNS myelination	2961	GTF2E2	ORPHA:33364
HP:0011400	Abnormal CNS myelination	6663	SOX10	OMIM:609136
HP:0011400	Abnormal CNS myelination	5728	PTEN	ORPHA:101070
HP:0011400	Abnormal CNS myelination	57192	MCOLN1	OMIM:252650
HP:0011400	Abnormal CNS myelination	10128	LRPPRC	OMIM:220111
HP:0011400	Abnormal CNS myelination	443	ASPA	OMIM:271900
HP:0011400	Abnormal CNS myelination	1436	CSF1R	OMIM:221820
HP:0011400	Abnormal CNS myelination	4547	MTTP	OMIM:200100
HP:0011400	Abnormal CNS myelination	1593	CYP27A1	ORPHA:909
HP:0011400	Abnormal CNS myelination	5173	PDYN	OMIM:610245
HP:0011400	Abnormal CNS myelination	54148	MRPL39	OMIM:620646
HP:0011400	Abnormal CNS myelination	5824	PEX19	OMIM:614886
HP:0011400	Abnormal CNS myelination	3643	INSR	ORPHA:769
HP:0011400	Abnormal CNS myelination	4143	MAT1A	OMIM:250850
HP:0011400	Abnormal CNS myelination	8496	PPFIBP1	OMIM:620024
HP:0011400	Abnormal CNS myelination	285362	SUMF1	OMIM:272200
HP:0011400	Abnormal CNS myelination	224	ALDH3A2	OMIM:270200
HP:0011400	Abnormal CNS myelination	1967	EIF2B1	OMIM:603896
HP:0011400	Abnormal CNS myelination	54209	TREM2	OMIM:618193
HP:0011400	Abnormal CNS myelination	5551	PRF1	OMIM:603553
HP:0011400	Abnormal CNS myelination	3119	HLA-DQB1	OMIM:126200
HP:0011400	Abnormal CNS myelination	3123	HLA-DRB1	OMIM:126200
HP:0011400	Abnormal CNS myelination	79736	TEFM	OMIM:620451
HP:0011400	Abnormal CNS myelination	6311	ATXN2	ORPHA:98756
HP:0011400	Abnormal CNS myelination	84987	COX14	OMIM:619053
HP:0011400	Abnormal CNS myelination	2581	GALC	ORPHA:206443
HP:0011400	Abnormal CNS myelination	54828	BCAS3	OMIM:619641
HP:0011400	Abnormal CNS myelination	5354	PLP1	OMIM:312080
HP:0011400	Abnormal CNS myelination	84706	GPT2	ORPHA:477673
HP:0011400	Abnormal CNS myelination	57498	KIDINS220	ORPHA:521390
HP:0011400	Abnormal CNS myelination	2548	GAA	OMIM:232300
HP:0011400	Abnormal CNS myelination	8635	RNASET2	OMIM:612951
HP:0011400	Abnormal CNS myelination	2071	ERCC3	OMIM:610651
HP:0011400	Abnormal CNS myelination	23729	SHPK	ORPHA:440713
HP:0011400	Abnormal CNS myelination	5238	PGM3	OMIM:615816
HP:0011400	Abnormal CNS myelination	3425	IDUA	OMIM:607014
HP:0011400	Abnormal CNS myelination	90952	ESAM	OMIM:620371
HP:0011400	Abnormal CNS myelination	84334	COA8	OMIM:619061
HP:0002521	Hypsarrhythmia	3155	HMGCL	ORPHA:20
HP:0002521	Hypsarrhythmia	8243	SMC1A	OMIM:301044
HP:0002521	Hypsarrhythmia	199857	ALG14	OMIM:619036
HP:0002521	Hypsarrhythmia	340533	NEXMIF	OMIM:300912
HP:0002521	Hypsarrhythmia	9853	RUSC2	OMIM:617773
HP:0002521	Hypsarrhythmia	343450	KCNT2	OMIM:617771
HP:0002521	Hypsarrhythmia	2775	GNAO1	OMIM:615473
HP:0002521	Hypsarrhythmia	2775	GNAO1	ORPHA:1934
HP:0002521	Hypsarrhythmia	10564	ARFGEF2	OMIM:608097
HP:0002521	Hypsarrhythmia	7355	SLC35A2	ORPHA:356961
HP:0002521	Hypsarrhythmia	7355	SLC35A2	OMIM:300896
HP:0002521	Hypsarrhythmia	1798	DPAGT1	OMIM:608093
HP:0002521	Hypsarrhythmia	1798	DPAGT1	ORPHA:86309
HP:0002521	Hypsarrhythmia	2653	GCSH	OMIM:620423
HP:0002521	Hypsarrhythmia	9526	MPDU1	OMIM:609180
HP:0002521	Hypsarrhythmia	9526	MPDU1	ORPHA:79323
HP:0002521	Hypsarrhythmia	6326	SCN2A	ORPHA:293181
HP:0002521	Hypsarrhythmia	6326	SCN2A	ORPHA:3451
HP:0002521	Hypsarrhythmia	6326	SCN2A	ORPHA:1934
HP:0002521	Hypsarrhythmia	57468	SLC12A5	ORPHA:293181
HP:0002521	Hypsarrhythmia	23236	PLCB1	ORPHA:293181
HP:0002521	Hypsarrhythmia	23236	PLCB1	ORPHA:3451
HP:0002521	Hypsarrhythmia	23236	PLCB1	OMIM:613722
HP:0002521	Hypsarrhythmia	3785	KCNQ2	ORPHA:293181
HP:0002521	Hypsarrhythmia	3785	KCNQ2	ORPHA:439218
HP:0002521	Hypsarrhythmia	57582	KCNT1	ORPHA:293181
HP:0002521	Hypsarrhythmia	5277	PIGA	ORPHA:293181
HP:0002521	Hypsarrhythmia	5277	PIGA	OMIM:300868
HP:0002521	Hypsarrhythmia	5277	PIGA	ORPHA:3451
HP:0002521	Hypsarrhythmia	6323	SCN1A	ORPHA:293181
HP:0002521	Hypsarrhythmia	6323	SCN1A	ORPHA:442835
HP:0002521	Hypsarrhythmia	79751	SLC25A22	ORPHA:293181
HP:0002521	Hypsarrhythmia	79751	SLC25A22	ORPHA:1934
HP:0002521	Hypsarrhythmia	57465	TBC1D24	ORPHA:293181
HP:0002521	Hypsarrhythmia	6328	SCN3A	OMIM:617938
HP:0002521	Hypsarrhythmia	6328	SCN3A	ORPHA:442835
HP:0002521	Hypsarrhythmia	4076	CAPRIN1	OMIM:620782
HP:0002521	Hypsarrhythmia	22845	DOLK	ORPHA:91131
HP:0002521	Hypsarrhythmia	22845	DOLK	OMIM:610768
HP:0002521	Hypsarrhythmia	8496	PPFIBP1	OMIM:620024
HP:0002521	Hypsarrhythmia	170302	ARX	OMIM:308350
HP:0002521	Hypsarrhythmia	170302	ARX	ORPHA:3451
HP:0002521	Hypsarrhythmia	170302	ARX	ORPHA:1934
HP:0002521	Hypsarrhythmia	2258	FGF13	OMIM:301058
HP:0002521	Hypsarrhythmia	51112	TRAPPC12	ORPHA:500144
HP:0002521	Hypsarrhythmia	51112	TRAPPC12	OMIM:617669
HP:0002521	Hypsarrhythmia	26275	HIBCH	ORPHA:88639
HP:0002521	Hypsarrhythmia	64801	ARV1	OMIM:617020
HP:0002521	Hypsarrhythmia	79868	ALG13	OMIM:300884
HP:0002521	Hypsarrhythmia	79868	ALG13	ORPHA:324422
HP:0002521	Hypsarrhythmia	8867	SYNJ1	OMIM:617389
HP:0002521	Hypsarrhythmia	8867	SYNJ1	ORPHA:442835
HP:0002521	Hypsarrhythmia	10659	CELF2	OMIM:619561
HP:0002521	Hypsarrhythmia	10659	CELF2	ORPHA:442835
HP:0002521	Hypsarrhythmia	51506	UFC1	OMIM:618076
HP:0002521	Hypsarrhythmia	3745	KCNB1	OMIM:616056
HP:0002521	Hypsarrhythmia	3745	KCNB1	ORPHA:442835
HP:0002521	Hypsarrhythmia	6487	ST3GAL3	OMIM:615006
HP:0002521	Hypsarrhythmia	6487	ST3GAL3	ORPHA:3451
HP:0002521	Hypsarrhythmia	2782	GNB1	OMIM:616973
HP:0002521	Hypsarrhythmia	7280	TUBB2A	OMIM:615763
HP:0002521	Hypsarrhythmia	112939	NACC1	ORPHA:500545
HP:0002521	Hypsarrhythmia	10565	ARFGEF1	OMIM:619964
HP:0002521	Hypsarrhythmia	157922	CAMSAP1	OMIM:620316
HP:0002521	Hypsarrhythmia	55780	ERMARD	ORPHA:75857
HP:0002521	Hypsarrhythmia	55780	ERMARD	OMIM:615544
HP:0002521	Hypsarrhythmia	3767	KCNJ11	ORPHA:79134
HP:0002521	Hypsarrhythmia	3767	KCNJ11	OMIM:618856
HP:0002521	Hypsarrhythmia	79731	NARS2	ORPHA:79134
HP:0002521	Hypsarrhythmia	6833	ABCC8	ORPHA:79134
HP:0002521	Hypsarrhythmia	23097	CDK19	OMIM:618916
HP:0002521	Hypsarrhythmia	23097	CDK19	ORPHA:442835
HP:0002521	Hypsarrhythmia	161725	OTUD7A	OMIM:620790
HP:0002521	Hypsarrhythmia	4763	NF1	OMIM:162200
HP:0002521	Hypsarrhythmia	84340	GFM2	ORPHA:565624
HP:0002521	Hypsarrhythmia	84340	GFM2	OMIM:618397
HP:0002521	Hypsarrhythmia	2560	GABRB1	OMIM:617153
HP:0002521	Hypsarrhythmia	79641	ROGDI	OMIM:226750
HP:0002521	Hypsarrhythmia	150094	SIK1	OMIM:616341
HP:0002521	Hypsarrhythmia	150094	SIK1	ORPHA:3451
HP:0002521	Hypsarrhythmia	150094	SIK1	ORPHA:1934
HP:0002521	Hypsarrhythmia	535	ATP6V0A1	OMIM:619970
HP:0002521	Hypsarrhythmia	8120	AP3B2	OMIM:617276
HP:0002521	Hypsarrhythmia	8120	AP3B2	ORPHA:442835
HP:0002521	Hypsarrhythmia	166378	AFG2A	ORPHA:457351
HP:0002521	Hypsarrhythmia	5530	PPP3CA	OMIM:617711
HP:0002521	Hypsarrhythmia	5530	PPP3CA	ORPHA:442835
HP:0002521	Hypsarrhythmia	1759	DNM1	OMIM:616346
HP:0002521	Hypsarrhythmia	1759	DNM1	ORPHA:442835
HP:0002521	Hypsarrhythmia	1759	DNM1	OMIM:620352
HP:0002521	Hypsarrhythmia	6709	SPTAN1	OMIM:613477
HP:0002521	Hypsarrhythmia	6709	SPTAN1	ORPHA:3451
HP:0002521	Hypsarrhythmia	4915	NTRK2	OMIM:617830
HP:0002521	Hypsarrhythmia	4915	NTRK2	ORPHA:442835
HP:0002521	Hypsarrhythmia	4915	NTRK2	ORPHA:3451
HP:0002521	Hypsarrhythmia	9326	ZNHIT3	ORPHA:2836
HP:0002521	Hypsarrhythmia	9326	ZNHIT3	OMIM:260565
HP:0002521	Hypsarrhythmia	7965	AIMP2	OMIM:618006
HP:0002521	Hypsarrhythmia	3054	HCFC1	OMIM:309541
HP:0002521	Hypsarrhythmia	26999	CYFIP2	OMIM:618008
HP:0002521	Hypsarrhythmia	26999	CYFIP2	ORPHA:442835
HP:0002521	Hypsarrhythmia	9361	LONP1	ORPHA:79243
HP:0002521	Hypsarrhythmia	5160	PDHA1	ORPHA:79243
HP:0002521	Hypsarrhythmia	501	ALDH7A1	ORPHA:3006
HP:0002521	Hypsarrhythmia	11212	PLPBP	ORPHA:3006
HP:0002521	Hypsarrhythmia	8131	NPRL3	ORPHA:98820
HP:0002521	Hypsarrhythmia	10641	NPRL2	ORPHA:98820
HP:0002521	Hypsarrhythmia	9681	DEPDC5	ORPHA:98820
HP:0002521	Hypsarrhythmia	5805	PTS	ORPHA:13
HP:0002521	Hypsarrhythmia	6792	CDKL5	ORPHA:505652
HP:0002521	Hypsarrhythmia	6792	CDKL5	OMIM:300672
HP:0002521	Hypsarrhythmia	6792	CDKL5	ORPHA:3451
HP:0002521	Hypsarrhythmia	6792	CDKL5	ORPHA:1934
HP:0002521	Hypsarrhythmia	1327	COX4I1	OMIM:619060
HP:0002521	Hypsarrhythmia	283987	HID1	OMIM:619983
HP:0002521	Hypsarrhythmia	2906	GRIN2D	OMIM:617162
HP:0002521	Hypsarrhythmia	2906	GRIN2D	ORPHA:442835
HP:0002521	Hypsarrhythmia	25930	PTPN23	OMIM:618890
HP:0002521	Hypsarrhythmia	23327	NEDD4L	OMIM:617201
HP:0002521	Hypsarrhythmia	1822	ATN1	OMIM:618494
HP:0002521	Hypsarrhythmia	132158	GLYCTK	OMIM:220120
HP:0002521	Hypsarrhythmia	4761	NEUROD2	OMIM:618374
HP:0002521	Hypsarrhythmia	4761	NEUROD2	ORPHA:1934
HP:0002521	Hypsarrhythmia	84896	ATAD1	OMIM:618011
HP:0002521	Hypsarrhythmia	523	ATP6V1A	OMIM:618012
HP:0002521	Hypsarrhythmia	523	ATP6V1A	ORPHA:442835
HP:0002521	Hypsarrhythmia	523	ATP6V1A	OMIM:617403
HP:0002521	Hypsarrhythmia	2257	FGF12	OMIM:617166
HP:0002521	Hypsarrhythmia	2257	FGF12	ORPHA:442835
HP:0002521	Hypsarrhythmia	1641	DCX	ORPHA:2148
HP:0002521	Hypsarrhythmia	284184	NDUFAF8	OMIM:618776
HP:0002521	Hypsarrhythmia	6304	SATB1	OMIM:619229
HP:0002521	Hypsarrhythmia	3737	KCNA2	ORPHA:442835
HP:0002521	Hypsarrhythmia	10991	SLC38A3	ORPHA:442835
HP:0002521	Hypsarrhythmia	51343	FZR1	ORPHA:442835
HP:0002521	Hypsarrhythmia	3747	KCNC2	ORPHA:442835
HP:0002521	Hypsarrhythmia	3747	KCNC2	OMIM:619913
HP:0002521	Hypsarrhythmia	1917	EEF1A2	ORPHA:442835
HP:0002521	Hypsarrhythmia	1917	EEF1A2	OMIM:616409
HP:0002521	Hypsarrhythmia	23219	FBXO28	ORPHA:442835
HP:0002521	Hypsarrhythmia	2561	GABRB2	ORPHA:442835
HP:0002521	Hypsarrhythmia	8831	SYNGAP1	ORPHA:442835
HP:0002521	Hypsarrhythmia	2558	GABRA5	ORPHA:442835
HP:0002521	Hypsarrhythmia	116150	NUS1	ORPHA:442835
HP:0002521	Hypsarrhythmia	1213	CLTC	ORPHA:442835
HP:0002521	Hypsarrhythmia	51741	WWOX	ORPHA:442835
HP:0002521	Hypsarrhythmia	23334	SZT2	ORPHA:442835
HP:0002521	Hypsarrhythmia	348980	HCN1	ORPHA:442835
HP:0002521	Hypsarrhythmia	25977	NECAP1	ORPHA:442835
HP:0002521	Hypsarrhythmia	23241	PACS2	ORPHA:442835
HP:0002521	Hypsarrhythmia	16	AARS1	ORPHA:442835
HP:0002521	Hypsarrhythmia	6334	SCN8A	ORPHA:442835
HP:0002521	Hypsarrhythmia	9568	GABBR2	ORPHA:442835
HP:0002521	Hypsarrhythmia	9568	GABBR2	OMIM:617904
HP:0002521	Hypsarrhythmia	2555	GABRA2	ORPHA:442835
HP:0002521	Hypsarrhythmia	55152	DALRD3	ORPHA:442835
HP:0002521	Hypsarrhythmia	25973	PARS2	ORPHA:442835
HP:0002521	Hypsarrhythmia	25973	PARS2	OMIM:618437
HP:0002521	Hypsarrhythmia	478	ATP1A3	ORPHA:442835
HP:0002521	Hypsarrhythmia	22906	TRAK1	ORPHA:442835
HP:0002521	Hypsarrhythmia	2566	GABRG2	ORPHA:442835
HP:0002521	Hypsarrhythmia	7532	YWHAG	ORPHA:442835
HP:0002521	Hypsarrhythmia	79876	UBA5	ORPHA:442835
HP:0002521	Hypsarrhythmia	781	CACNA2D1	ORPHA:442835
HP:0002521	Hypsarrhythmia	774	CACNA1B	ORPHA:442835
HP:0002521	Hypsarrhythmia	51412	ACTL6B	ORPHA:442835
HP:0002521	Hypsarrhythmia	2290	FOXG1	ORPHA:442835
HP:0002521	Hypsarrhythmia	6506	SLC1A2	ORPHA:442835
HP:0002521	Hypsarrhythmia	6506	SLC1A2	OMIM:617105
HP:0002521	Hypsarrhythmia	477	ATP1A2	ORPHA:442835
HP:0002521	Hypsarrhythmia	284111	SLC13A5	ORPHA:442835
HP:0002521	Hypsarrhythmia	22866	CNKSR2	ORPHA:442835
HP:0002521	Hypsarrhythmia	773	CACNA1A	ORPHA:442835
HP:0002521	Hypsarrhythmia	79947	DHDDS	ORPHA:442835
HP:0002521	Hypsarrhythmia	55361	PI4K2A	OMIM:620732
HP:0002521	Hypsarrhythmia	26040	SETBP1	OMIM:269150
HP:0002521	Hypsarrhythmia	26040	SETBP1	ORPHA:798
HP:0002521	Hypsarrhythmia	443	ASPA	OMIM:271900
HP:0002521	Hypsarrhythmia	149371	EXOC8	OMIM:619076
HP:0002521	Hypsarrhythmia	23316	CUX2	OMIM:618141
HP:0002521	Hypsarrhythmia	4567	MT-TL1	ORPHA:324525
HP:0002521	Hypsarrhythmia	6812	STXBP1	OMIM:612164
HP:0002521	Hypsarrhythmia	6812	STXBP1	ORPHA:599373
HP:0002521	Hypsarrhythmia	6711	SPTBN1	OMIM:619475
HP:0002521	Hypsarrhythmia	55699	IARS2	OMIM:616007
HP:0002521	Hypsarrhythmia	92609	TIMM50	OMIM:617698
HP:0002521	Hypsarrhythmia	92609	TIMM50	ORPHA:505216
HP:0002521	Hypsarrhythmia	8452	CUL3	OMIM:619239
HP:0002521	Hypsarrhythmia	116115	ZNF526	OMIM:619877
HP:0002521	Hypsarrhythmia	85440	DOCK7	ORPHA:411986
HP:0002521	Hypsarrhythmia	85440	DOCK7	OMIM:615859
HP:0002521	Hypsarrhythmia	538	ATP7A	OMIM:309400
HP:0002521	Hypsarrhythmia	378884	NHLRC1	ORPHA:501
HP:0002521	Hypsarrhythmia	7957	EPM2A	ORPHA:501
HP:0002521	Hypsarrhythmia	85365	ALG2	ORPHA:79326
HP:0002521	Hypsarrhythmia	85365	ALG2	OMIM:607906
HP:0002521	Hypsarrhythmia	4247	MGAT2	ORPHA:79329
HP:0002521	Hypsarrhythmia	728294	D2HGDH	OMIM:600721
HP:0002521	Hypsarrhythmia	2571	GAD1	OMIM:619124
HP:0002521	Hypsarrhythmia	60558	GUF1	OMIM:617065
HP:0002521	Hypsarrhythmia	60558	GUF1	ORPHA:3451
HP:0002521	Hypsarrhythmia	51124	IER3IP1	OMIM:614231
HP:0002521	Hypsarrhythmia	26227	PHGDH	OMIM:601815
HP:0002521	Hypsarrhythmia	7358	UGDH	OMIM:618792
HP:0002521	Hypsarrhythmia	56947	MFF	ORPHA:485421
HP:0002521	Hypsarrhythmia	56947	MFF	OMIM:617086
HP:0002521	Hypsarrhythmia	2904	GRIN2B	OMIM:616139
HP:0002521	Hypsarrhythmia	2904	GRIN2B	ORPHA:3451
HP:0002521	Hypsarrhythmia	4190	MDH1	OMIM:618959
HP:0002521	Hypsarrhythmia	9373	PLAA	ORPHA:521426
HP:0002521	Hypsarrhythmia	55704	CCDC88A	OMIM:617507
HP:0002521	Hypsarrhythmia	10297	APC2	OMIM:618677
HP:0002521	Hypsarrhythmia	9440	MED17	OMIM:613668
HP:0002521	Hypsarrhythmia	221692	PHACTR1	ORPHA:3451
HP:0002521	Hypsarrhythmia	221692	PHACTR1	OMIM:618298
HP:0002521	Hypsarrhythmia	10695	CNPY3	ORPHA:3451
HP:0002521	Hypsarrhythmia	10695	CNPY3	OMIM:617929
HP:0002521	Hypsarrhythmia	11152	WDR45	ORPHA:3451
HP:0002521	Hypsarrhythmia	10681	GNB5	ORPHA:542306
HP:0002521	Hypsarrhythmia	55739	NAXD	OMIM:618321
HP:0002521	Hypsarrhythmia	284098	PIGW	OMIM:616025
HP:0002521	Hypsarrhythmia	440	ASNS	OMIM:615574
HP:0002521	Hypsarrhythmia	777	CACNA1E	OMIM:618285
HP:0002521	Hypsarrhythmia	2562	GABRB3	OMIM:617113
HP:0002521	Hypsarrhythmia	51227	PIGP	OMIM:617599
HP:0002521	Hypsarrhythmia	51227	PIGP	ORPHA:1934
HP:0002521	Hypsarrhythmia	79718	TBL1XR1	OMIM:616944
HP:0002521	Hypsarrhythmia	51294	PCDH12	OMIM:251280
HP:0002521	Hypsarrhythmia	64116	SLC39A8	ORPHA:468699
HP:0002521	Hypsarrhythmia	5048	PAFAH1B1	ORPHA:95232
HP:0002521	Hypsarrhythmia	6509	SLC1A4	ORPHA:447997
HP:0002521	Hypsarrhythmia	2801	GOLGA2	OMIM:620240
HP:0002521	Hypsarrhythmia	10195	ALG3	OMIM:601110
HP:0002521	Hypsarrhythmia	51733	UPB1	OMIM:613161
HP:0002521	Hypsarrhythmia	7040	TGFB1	OMIM:618213
HP:0002521	Hypsarrhythmia	1496	CTNNA2	OMIM:618174
HP:0002521	Hypsarrhythmia	55753	OGDHL	OMIM:619701
HP:0002521	Hypsarrhythmia	81603	TRIM8	OMIM:619428
HP:0002521	Hypsarrhythmia	81603	TRIM8	ORPHA:1934
HP:0002521	Hypsarrhythmia	3736	KCNA1	ORPHA:1934
HP:0002521	Hypsarrhythmia	9091	PIGQ	ORPHA:1934
HP:0002521	Hypsarrhythmia	140679	SLC32A1	ORPHA:1934
HP:0002521	Hypsarrhythmia	2902	GRIN1	ORPHA:1934
HP:0002521	Hypsarrhythmia	8573	CASK	ORPHA:1934
HP:0002521	Hypsarrhythmia	23312	DMXL2	ORPHA:1934
HP:0002521	Hypsarrhythmia	2917	GRM7	ORPHA:1934
HP:0002521	Hypsarrhythmia	11284	PNKP	ORPHA:1934
HP:0002521	Hypsarrhythmia	6324	SCN1B	ORPHA:1934
HP:0002521	Hypsarrhythmia	90952	ESAM	OMIM:620371
HP:0002522	Areflexia of lower limbs	87178	PNPT1	ORPHA:101111
HP:0002522	Areflexia of lower limbs	87178	PNPT1	OMIM:608703
HP:0002522	Areflexia of lower limbs	3315	HSPB1	OMIM:608634
HP:0002522	Areflexia of lower limbs	3315	HSPB1	OMIM:606595
HP:0002522	Areflexia of lower limbs	51	ACOX1	OMIM:618960
HP:0002522	Areflexia of lower limbs	4099	MAG	OMIM:616680
HP:0002522	Areflexia of lower limbs	8888	MCM3AP	OMIM:618124
HP:0002522	Areflexia of lower limbs	80207	OPA3	ORPHA:67036
HP:0002522	Areflexia of lower limbs	2395	FXN	OMIM:229300
HP:0002522	Areflexia of lower limbs	2395	FXN	ORPHA:95
HP:0002522	Areflexia of lower limbs	5631	PRPS1	OMIM:311070
HP:0002522	Areflexia of lower limbs	182	JAG1	OMIM:619574
HP:0002522	Areflexia of lower limbs	6709	SPTAN1	OMIM:620528
HP:0002522	Areflexia of lower limbs	50484	RRM2B	ORPHA:329336
HP:0002522	Areflexia of lower limbs	246243	RNASEH1	ORPHA:329336
HP:0002522	Areflexia of lower limbs	2733	GLE1	OMIM:611890
HP:0002522	Areflexia of lower limbs	1674	DES	ORPHA:98909
HP:0002522	Areflexia of lower limbs	6606	SMN1	OMIM:271150
HP:0002522	Areflexia of lower limbs	80208	SPG11	OMIM:616668
HP:0002522	Areflexia of lower limbs	8799	PEX11B	OMIM:614920
HP:0002522	Areflexia of lower limbs	1890	TYMP	OMIM:603041
HP:0002522	Areflexia of lower limbs	5428	POLG	OMIM:603041
HP:0002522	Areflexia of lower limbs	81846	SBF2	ORPHA:99956
HP:0002522	Areflexia of lower limbs	274	BIN1	ORPHA:169189
HP:0002522	Areflexia of lower limbs	64419	MTMR14	ORPHA:169189
HP:0002522	Areflexia of lower limbs	4618	MYF6	ORPHA:169189
HP:0002522	Areflexia of lower limbs	1785	DNM2	ORPHA:169189
HP:0002522	Areflexia of lower limbs	6261	RYR1	ORPHA:169189
HP:0002522	Areflexia of lower limbs	8139	GAN	OMIM:256850
HP:0002522	Areflexia of lower limbs	6548	SLC9A1	OMIM:616291
HP:0002522	Areflexia of lower limbs	5611	DNAJC3	OMIM:616192
HP:0002522	Areflexia of lower limbs	5611	DNAJC3	ORPHA:445062
HP:0002522	Areflexia of lower limbs	8557	TCAP	OMIM:601954
HP:0002522	Areflexia of lower limbs	3508	IGHMBP2	OMIM:616155
HP:0002522	Areflexia of lower limbs	80347	COASY	OMIM:615643
HP:0002522	Areflexia of lower limbs	547	KIF1A	OMIM:614213
HP:0002522	Areflexia of lower limbs	8884	SLC5A6	OMIM:619903
HP:0002522	Areflexia of lower limbs	84876	ORAI1	OMIM:615883
HP:0002522	Areflexia of lower limbs	5376	PMP22	ORPHA:90658
HP:0002522	Areflexia of lower limbs	3708	ITPR1	OMIM:206700
HP:0002522	Areflexia of lower limbs	374393	FAM111B	OMIM:615704
HP:0002522	Areflexia of lower limbs	3710	ITPR3	OMIM:620111
HP:0002522	Areflexia of lower limbs	26353	HSPB8	OMIM:158590
HP:0002522	Areflexia of lower limbs	9927	MFN2	ORPHA:99947
HP:0002522	Areflexia of lower limbs	6786	STIM1	OMIM:160565
HP:0002522	Areflexia of lower limbs	291	SLC25A4	ORPHA:254892
HP:0002522	Areflexia of lower limbs	56652	TWNK	ORPHA:254892
HP:0002522	Areflexia of lower limbs	56652	TWNK	OMIM:607459
HP:0002522	Areflexia of lower limbs	11232	POLG2	ORPHA:254892
HP:0002522	Areflexia of lower limbs	9997	SCO2	OMIM:604377
HP:0002522	Areflexia of lower limbs	1410	CRYAB	OMIM:608810
HP:0002522	Areflexia of lower limbs	4287	ATXN3	OMIM:109150
HP:0002522	Areflexia of lower limbs	57003	CCDC47	OMIM:618268
HP:0002522	Areflexia of lower limbs	3094	HINT1	ORPHA:324442
HP:0002522	Areflexia of lower limbs	7415	VCP	ORPHA:435387
HP:0002522	Areflexia of lower limbs	7415	VCP	OMIM:616687
HP:0002522	Areflexia of lower limbs	22880	MORC2	OMIM:616688
HP:0002522	Areflexia of lower limbs	57863	CADM3	OMIM:619519
HP:0002522	Areflexia of lower limbs	4361	MRE11	ORPHA:251347
HP:0002522	Areflexia of lower limbs	4361	MRE11	OMIM:604391
HP:0002522	Areflexia of lower limbs	5165	PDK3	OMIM:300905
HP:0002522	Areflexia of lower limbs	5165	PDK3	ORPHA:352675
HP:0002522	Areflexia of lower limbs	64837	KLC2	OMIM:609541
HP:0002522	Areflexia of lower limbs	10159	ATP6AP2	ORPHA:93952
HP:0002522	Areflexia of lower limbs	25894	PLEKHG4	ORPHA:98765
HP:0002522	Areflexia of lower limbs	7879	RAB7A	OMIM:600882
HP:0002522	Areflexia of lower limbs	7504	XK	OMIM:300842
HP:0002522	Areflexia of lower limbs	23204	ARL6IP1	OMIM:615685
HP:0002522	Areflexia of lower limbs	5192	PEX10	OMIM:614871
HP:0002522	Areflexia of lower limbs	65055	REEP1	OMIM:614751
HP:0002522	Areflexia of lower limbs	65055	REEP1	OMIM:620011
HP:0002522	Areflexia of lower limbs	3035	HARS1	ORPHA:488333
HP:0002522	Areflexia of lower limbs	3035	HARS1	OMIM:616625
HP:0002522	Areflexia of lower limbs	26278	SACS	OMIM:270550
HP:0002522	Areflexia of lower limbs	26278	SACS	ORPHA:98
HP:0002522	Areflexia of lower limbs	10280	SIGMAR1	OMIM:605726
HP:0002522	Areflexia of lower limbs	8878	SQSTM1	OMIM:617158
HP:0002522	Areflexia of lower limbs	4358	MPV17	OMIM:256810
HP:0002522	Areflexia of lower limbs	5832	ALDH18A1	ORPHA:447757
HP:0002522	Areflexia of lower limbs	5832	ALDH18A1	ORPHA:447760
HP:0002522	Areflexia of lower limbs	10020	GNE	ORPHA:602
HP:0002522	Areflexia of lower limbs	2632	GBE1	OMIM:263570
HP:0002522	Areflexia of lower limbs	84342	COG8	OMIM:611182
HP:0002522	Areflexia of lower limbs	16	AARS1	OMIM:613287
HP:0002522	Areflexia of lower limbs	5981	RFC1	OMIM:614575
HP:0002522	Areflexia of lower limbs	23230	VPS13A	ORPHA:2388
HP:0002522	Areflexia of lower limbs	1861	TOR1A	OMIM:128100
HP:0002522	Areflexia of lower limbs	4976	OPA1	ORPHA:1215
HP:0002522	Areflexia of lower limbs	5700	PSMC1	OMIM:620071
HP:0002522	Areflexia of lower limbs	59345	GNB4	OMIM:615185
HP:0002522	Areflexia of lower limbs	55958	KLHL9	ORPHA:399081
HP:0002522	Areflexia of lower limbs	5375	PMP2	OMIM:618279
HP:0002522	Areflexia of lower limbs	10516	FBLN5	OMIM:619764
HP:0002522	Areflexia of lower limbs	3977	LIFR	OMIM:601559
HP:0002522	Areflexia of lower limbs	3977	LIFR	ORPHA:3206
HP:0002522	Areflexia of lower limbs	10613	ERLIN1	OMIM:615681
HP:0002522	Areflexia of lower limbs	8988	HSPB3	OMIM:613376
HP:0002522	Areflexia of lower limbs	7453	WARS1	OMIM:617721
HP:0002522	Areflexia of lower limbs	79784	MYH14	OMIM:614369
HP:0002522	Areflexia of lower limbs	6607	SMN2	OMIM:253400
HP:0002522	Areflexia of lower limbs	6335	SCN9A	ORPHA:90026
HP:0002522	Areflexia of lower limbs	11280	SCN11A	ORPHA:90026
HP:0002522	Areflexia of lower limbs	6336	SCN10A	ORPHA:90026
HP:0002522	Areflexia of lower limbs	8291	DYSF	OMIM:254130
HP:0002522	Areflexia of lower limbs	8291	DYSF	ORPHA:45448
HP:0002522	Areflexia of lower limbs	5238	PGM3	ORPHA:443811
HP:0002522	Areflexia of lower limbs	10743	RAI1	ORPHA:477817
HP:0002522	Areflexia of lower limbs	4747	NEFL	ORPHA:99939
HP:0002522	Areflexia of lower limbs	2705	GJB1	ORPHA:1175
HP:0002527	Falls	5138	PDE2A	OMIM:619150
HP:0002527	Falls	4137	MAPT	OMIM:601104
HP:0002527	Falls	4137	MAPT	ORPHA:240094
HP:0002527	Falls	4137	MAPT	ORPHA:240085
HP:0002527	Falls	4137	MAPT	ORPHA:240071
HP:0002527	Falls	4137	MAPT	ORPHA:240112
HP:0002527	Falls	4728	NDUFS8	OMIM:618222
HP:0002527	Falls	91452	ACBD5	OMIM:618863
HP:0002527	Falls	1763	DNA2	OMIM:615156
HP:0002527	Falls	6711	SPTBN1	OMIM:619475
HP:0002527	Falls	5913	RAPSN	OMIM:616326
HP:0002527	Falls	54832	VPS13C	OMIM:616840
HP:0002527	Falls	4967	OGDH	OMIM:203740
HP:0002527	Falls	6418	SET	OMIM:618106
HP:0002527	Falls	7273	TTN	ORPHA:178464
HP:0002527	Falls	9227	LRAT	OMIM:613341
HP:0002527	Falls	5575	PRKAR1B	ORPHA:412066
HP:0002527	Falls	84876	ORAI1	OMIM:615883
HP:0002527	Falls	23400	ATP13A2	OMIM:617225
HP:0002527	Falls	26278	SACS	OMIM:270550
HP:0002527	Falls	1600	DAB1	ORPHA:363710
HP:0002527	Falls	7169	TPM2	OMIM:609285
HP:0002527	Falls	64208	POPDC3	OMIM:618848
HP:0002527	Falls	4625	MYH7	OMIM:608358
HP:0002527	Falls	7080	NKX2-1	ORPHA:209905
HP:0002527	Falls	8139	GAN	ORPHA:643
HP:0002527	Falls	5832	ALDH18A1	ORPHA:447753
HP:0002527	Falls	5805	PTS	ORPHA:13
HP:0002527	Falls	10715	CERS1	OMIM:616230
HP:0002527	Falls	6390	SDHB	OMIM:619224
HP:0002527	Falls	1759	DNM1	ORPHA:2382
HP:0002527	Falls	2562	GABRB3	ORPHA:2382
HP:0002527	Falls	5602	MAPK10	ORPHA:2382
HP:0002527	Falls	773	CACNA1A	ORPHA:2382
HP:0002527	Falls	6323	SCN1A	ORPHA:2382
HP:0002527	Falls	23316	CUX2	ORPHA:2382
HP:0002527	Falls	1106	CHD2	ORPHA:2382
HP:0002527	Falls	10159	ATP6AP2	OMIM:300423
HP:0002527	Falls	79152	FA2H	ORPHA:329308
HP:0002527	Falls	4747	NEFL	OMIM:617882
HP:0002527	Falls	23230	VPS13A	ORPHA:2388
HP:0002527	Falls	2783	GNB2	OMIM:619503
HP:0002527	Falls	89874	SLC25A21	OMIM:618811
HP:0002527	Falls	26834	RNU4-2	OMIM:620851
HP:0002527	Falls	2395	FXN	ORPHA:95
HP:0002527	Falls	1756	DMD	ORPHA:98895
HP:0002528	Granulovacuolar degeneration	4137	MAPT	OMIM:601104
HP:0020101	Invasive fungal infection	8456	FOXN1	ORPHA:83471
HP:0020101	Invasive fungal infection	8517	IKBKG	ORPHA:98813
HP:0020101	Invasive fungal infection	4792	NFKBIA	ORPHA:98813
HP:0020100	Unusual fungal infection	4688	NCF2	OMIM:233710
HP:0020100	Unusual fungal infection	6804	STX1A	ORPHA:586
HP:0020100	Unusual fungal infection	2947	GSTM3	ORPHA:586
HP:0020100	Unusual fungal infection	7040	TGFB1	ORPHA:586
HP:0020100	Unusual fungal infection	2729	GCLC	ORPHA:586
HP:0020100	Unusual fungal infection	1084	CEACAM3	ORPHA:586
HP:0020100	Unusual fungal infection	6556	SLC11A1	ORPHA:586
HP:0020100	Unusual fungal infection	51164	DCTN4	ORPHA:586
HP:0020100	Unusual fungal infection	3783	KCNN4	ORPHA:586
HP:0020100	Unusual fungal infection	4282	MIF	ORPHA:586
HP:0020100	Unusual fungal infection	1909	EDNRA	ORPHA:586
HP:0020100	Unusual fungal infection	6550	SLC9A3	ORPHA:586
HP:0020100	Unusual fungal infection	3162	HMOX1	ORPHA:586
HP:0020100	Unusual fungal infection	115019	SLC26A9	ORPHA:586
HP:0020100	Unusual fungal infection	3077	HFE	ORPHA:586
HP:0020100	Unusual fungal infection	11254	SLC6A14	ORPHA:586
HP:0020100	Unusual fungal infection	5265	SERPINA1	ORPHA:586
HP:0020100	Unusual fungal infection	1080	CFTR	ORPHA:586
HP:0020100	Unusual fungal infection	22802	CLCA4	ORPHA:586
HP:0020100	Unusual fungal infection	4680	CEACAM6	ORPHA:586
HP:0020100	Unusual fungal infection	1536	CYBB	OMIM:306400
HP:0020100	Unusual fungal infection	653361	NCF1	OMIM:233700
HP:0020100	Unusual fungal infection	6772	STAT1	ORPHA:391487
HP:0020100	Unusual fungal infection	1535	CYBA	OMIM:233690
HP:0020100	Unusual fungal infection	84905	ZNF341	OMIM:618282
HP:0020100	Unusual fungal infection	3689	ITGB2	OMIM:116920
HP:0020100	Unusual fungal infection	3572	IL6ST	OMIM:619752
HP:0020100	Unusual fungal infection	9020	MAP3K14	OMIM:620449
HP:0020100	Unusual fungal infection	3551	IKBKB	OMIM:618204
HP:0020100	Unusual fungal infection	112744	IL17F	OMIM:613956
HP:0020100	Unusual fungal infection	3431	SP110	ORPHA:79124
HP:0020100	Unusual fungal infection	6720	SREBF1	OMIM:158310
HP:0020100	Unusual fungal infection	57724	EPG5	OMIM:242840
HP:0020100	Unusual fungal infection	5994	RFXAP	ORPHA:572
HP:0020100	Unusual fungal infection	4261	CIITA	ORPHA:572
HP:0020100	Unusual fungal infection	4261	CIITA	OMIM:209920
HP:0020100	Unusual fungal infection	5993	RFX5	ORPHA:572
HP:0020100	Unusual fungal infection	8625	RFXANK	ORPHA:572
HP:0020100	Unusual fungal infection	326	AIRE	OMIM:240300
HP:0020100	Unusual fungal infection	50619	DEF6	OMIM:619573
HP:0020100	Unusual fungal infection	100	ADA	OMIM:102700
HP:0020100	Unusual fungal infection	5896	RAG1	ORPHA:331206
HP:0020100	Unusual fungal infection	5896	RAG1	OMIM:603554
HP:0020100	Unusual fungal infection	5897	RAG2	ORPHA:331206
HP:0020100	Unusual fungal infection	5897	RAG2	OMIM:603554
HP:0020100	Unusual fungal infection	5238	PGM3	ORPHA:443811
HP:0020100	Unusual fungal infection	686	BTD	ORPHA:79241
HP:0020100	Unusual fungal infection	10092	ARPC5	OMIM:620565
HP:0020100	Unusual fungal infection	6789	STK4	OMIM:614868
HP:0020100	Unusual fungal infection	5293	PIK3CD	ORPHA:221139
HP:0020100	Unusual fungal infection	90417	KNSTRN	ORPHA:221139
HP:0020100	Unusual fungal infection	64421	DCLRE1C	OMIM:603554
HP:0020100	Unusual fungal infection	81704	DOCK8	OMIM:243700
HP:0020100	Unusual fungal infection	3594	IL12RB1	ORPHA:186
HP:0020100	Unusual fungal infection	23534	TNPO3	ORPHA:186
HP:0020100	Unusual fungal infection	3592	IL12A	ORPHA:186
HP:0020100	Unusual fungal infection	6689	SPIB	ORPHA:186
HP:0020100	Unusual fungal infection	5450	POU2AF1	ORPHA:186
HP:0020100	Unusual fungal infection	9966	TNFSF15	ORPHA:186
HP:0020100	Unusual fungal infection	79258	MMEL1	ORPHA:186
HP:0020100	Unusual fungal infection	3663	IRF5	ORPHA:186
HP:0020100	Unusual fungal infection	2624	GATA2	OMIM:614172
HP:0020100	Unusual fungal infection	6774	STAT3	OMIM:147060
HP:0020100	Unusual fungal infection	3561	IL2RG	OMIM:300400
HP:0020100	Unusual fungal infection	10320	IKZF1	OMIM:616873
HP:0020100	Unusual fungal infection	7297	TYK2	OMIM:611521
HP:0020100	Unusual fungal infection	3559	IL2RA	OMIM:606367
HP:0020100	Unusual fungal infection	7535	ZAP70	OMIM:269840
HP:0020100	Unusual fungal infection	10804	GJB6	ORPHA:477
HP:0020100	Unusual fungal infection	2706	GJB2	ORPHA:477
HP:0020100	Unusual fungal infection	3575	IL7R	ORPHA:169154
HP:0020100	Unusual fungal infection	915	CD3D	ORPHA:169160
HP:0020100	Unusual fungal infection	916	CD3E	ORPHA:169160
HP:0020100	Unusual fungal infection	919	CD247	ORPHA:169160
HP:0020100	Unusual fungal infection	919	CD247	OMIM:610163
HP:0020100	Unusual fungal infection	55630	SLC39A4	OMIM:201100
HP:0020100	Unusual fungal infection	1493	CTLA4	ORPHA:436159
HP:0020100	Unusual fungal infection	9841	ZBTB24	OMIM:614069
HP:0020100	Unusual fungal infection	7037	TFRC	OMIM:616740
HP:0020100	Unusual fungal infection	4598	MVK	OMIM:260920
HP:0020100	Unusual fungal infection	3932	LCK	OMIM:615758
HP:0020100	Unusual fungal infection	8546	AP3B1	OMIM:608233
HP:0020100	Unusual fungal infection	9948	WDR1	OMIM:150550
HP:0020100	Unusual fungal infection	28755	TRAC	OMIM:615387
HP:0020100	Unusual fungal infection	11151	CORO1A	OMIM:615401
HP:0020100	Unusual fungal infection	1794	DOCK2	OMIM:616433
HP:0020100	Unusual fungal infection	917	CD3G	OMIM:615607
HP:0020100	Unusual fungal infection	3718	JAK3	ORPHA:35078
HP:0020100	Unusual fungal infection	6097	RORC	OMIM:616622
HP:0020100	Unusual fungal infection	84196	USP48	ORPHA:96253
HP:0020100	Unusual fungal infection	7157	TP53	ORPHA:96253
HP:0020100	Unusual fungal infection	9101	USP8	ORPHA:96253
HP:0020100	Unusual fungal infection	64072	CDH23	ORPHA:96253
HP:0020100	Unusual fungal infection	2908	NR3C1	ORPHA:96253
HP:0020100	Unusual fungal infection	673	BRAF	ORPHA:96253
HP:0020100	Unusual fungal infection	546	ATRX	ORPHA:96253
HP:0020100	Unusual fungal infection	23765	IL17RA	OMIM:613953
HP:0020100	Unusual fungal infection	64170	CARD9	OMIM:212050
HP:0020100	Unusual fungal infection	146206	CARMIL2	OMIM:618131
HP:0020100	Unusual fungal infection	121214	SDR9C7	OMIM:617574
HP:0020100	Unusual fungal infection	3848	KRT1	ORPHA:530838
HP:0020100	Unusual fungal infection	4791	NFKB2	OMIM:615577
HP:0020100	Unusual fungal infection	79415	CYBC1	OMIM:618935
HP:0020100	Unusual fungal infection	84818	IL17RC	OMIM:616445
HP:0020100	Unusual fungal infection	545	ATR	OMIM:614564
HP:0020100	Unusual fungal infection	10758	TRAF3IP2	OMIM:615527
HP:0020100	Unusual fungal infection	3248	HPGD	ORPHA:217059
HP:0020100	Unusual fungal infection	5336	PLCG2	OMIM:614468
HP:0020100	Unusual fungal infection	64581	CLEC7A	OMIM:613108
HP:0020100	Unusual fungal infection	8456	FOXN1	ORPHA:83471
HP:0020100	Unusual fungal infection	8517	IKBKG	ORPHA:98813
HP:0020100	Unusual fungal infection	4792	NFKBIA	ORPHA:98813
HP:0020100	Unusual fungal infection	51311	TLR8	OMIM:301078
HP:0020100	Unusual fungal infection	50615	IL21R	OMIM:615207
HP:0020100	Unusual fungal infection	84433	CARD11	OMIM:615206
HP:0020100	Unusual fungal infection	5699	PSMB10	OMIM:620807
HP:0020100	Unusual fungal infection	3659	IRF1	OMIM:620668
HP:0020100	Unusual fungal infection	55072	RNF31	OMIM:620632
HP:0020100	Unusual fungal infection	713	C1QB	OMIM:620321
HP:0020100	Unusual fungal infection	959	CD40LG	OMIM:308230
HP:0020102	Pneumocystis jirovecii pneumonia	51311	TLR8	OMIM:301078
HP:0020102	Pneumocystis jirovecii pneumonia	9841	ZBTB24	OMIM:614069
HP:0020102	Pneumocystis jirovecii pneumonia	50615	IL21R	OMIM:615207
HP:0020102	Pneumocystis jirovecii pneumonia	84433	CARD11	OMIM:615206
HP:0020102	Pneumocystis jirovecii pneumonia	5699	PSMB10	OMIM:620807
HP:0020102	Pneumocystis jirovecii pneumonia	8517	IKBKG	OMIM:300636
HP:0020105	Severe toxoplasmosis	641	BLM	ORPHA:125
HP:0020105	Severe toxoplasmosis	3594	IL12RB1	ORPHA:319552
HP:0020104	Unusual protozoan infection	641	BLM	ORPHA:125
HP:0020104	Unusual protozoan infection	3594	IL12RB1	ORPHA:319552
HP:0020104	Unusual protozoan infection	4153	MBL2	OMIM:614372
HP:0003321	Biconcave flattened vertebrae	1277	COL1A1	OMIM:166220
HP:0003321	Biconcave flattened vertebrae	1277	COL1A1	OMIM:166200
HP:0003321	Biconcave flattened vertebrae	1278	COL1A2	OMIM:166220
HP:0009606	Complete duplication of distal phalanx of the thumb	8200	GDF5	ORPHA:93384
HP:0009606	Complete duplication of distal phalanx of the thumb	658	BMPR1B	ORPHA:93384
HP:0010066	Duplication of phalanx of hallux	60	ACTB	OMIM:243310
HP:0010066	Duplication of phalanx of hallux	2033	EP300	OMIM:180849
HP:0010066	Duplication of phalanx of hallux	1387	CREBBP	OMIM:180849
HP:0010066	Duplication of phalanx of hallux	9851	KIAA0753	OMIM:617127
HP:0010066	Duplication of phalanx of hallux	25836	NIPBL	OMIM:122470
HP:0010066	Duplication of phalanx of hallux	374654	KIF7	OMIM:200990
HP:0010066	Duplication of phalanx of hallux	219844	HYLS1	OMIM:236680
HP:0010066	Duplication of phalanx of hallux	26005	C2CD3	ORPHA:434179
HP:0010066	Duplication of phalanx of hallux	7291	TWIST1	ORPHA:794
HP:0010066	Duplication of phalanx of hallux	7291	TWIST1	OMIM:180750
HP:0010066	Duplication of phalanx of hallux	2263	FGFR2	ORPHA:794
HP:0010066	Duplication of phalanx of hallux	2261	FGFR3	ORPHA:794
HP:0010066	Duplication of phalanx of hallux	51715	RAB23	OMIM:201000
HP:0010066	Duplication of phalanx of hallux	124583	CANT1	OMIM:251450
HP:0010066	Duplication of phalanx of hallux	4750	NEK1	ORPHA:2751
HP:0005918	Abnormal finger phalanx morphology	9851	KIAA0753	ORPHA:475
HP:0005918	Abnormal finger phalanx morphology	9851	KIAA0753	ORPHA:2754
HP:0005918	Abnormal finger phalanx morphology	5147	PDE6D	ORPHA:475
HP:0005918	Abnormal finger phalanx morphology	5147	PDE6D	ORPHA:2754
HP:0005918	Abnormal finger phalanx morphology	79600	TCTN1	ORPHA:475
HP:0005918	Abnormal finger phalanx morphology	79848	CSPP1	ORPHA:475
HP:0005918	Abnormal finger phalanx morphology	51684	SUFU	ORPHA:475
HP:0005918	Abnormal finger phalanx morphology	54806	AHI1	ORPHA:475
HP:0005918	Abnormal finger phalanx morphology	54806	AHI1	ORPHA:220493
HP:0005918	Abnormal finger phalanx morphology	153241	CEP120	ORPHA:475
HP:0005918	Abnormal finger phalanx morphology	153241	CEP120	ORPHA:220493
HP:0005918	Abnormal finger phalanx morphology	65250	CPLANE1	ORPHA:475
HP:0005918	Abnormal finger phalanx morphology	65250	CPLANE1	ORPHA:2754
HP:0005918	Abnormal finger phalanx morphology	91147	TMEM67	ORPHA:475
HP:0005918	Abnormal finger phalanx morphology	200894	ARL13B	ORPHA:475
HP:0005918	Abnormal finger phalanx morphology	9731	CEP104	ORPHA:475
HP:0005918	Abnormal finger phalanx morphology	219844	HYLS1	ORPHA:475
HP:0005918	Abnormal finger phalanx morphology	23247	KATNIP	ORPHA:475
HP:0005918	Abnormal finger phalanx morphology	219854	TMEM218	ORPHA:475
HP:0005918	Abnormal finger phalanx morphology	95681	CEP41	ORPHA:475
HP:0005918	Abnormal finger phalanx morphology	95681	CEP41	ORPHA:220493
HP:0005918	Abnormal finger phalanx morphology	9786	KIAA0586	ORPHA:475
HP:0005918	Abnormal finger phalanx morphology	56623	INPP5E	ORPHA:475
HP:0005918	Abnormal finger phalanx morphology	56623	INPP5E	ORPHA:220493
HP:0005918	Abnormal finger phalanx morphology	79867	TCTN2	ORPHA:475
HP:0005918	Abnormal finger phalanx morphology	80776	B9D2	ORPHA:475
HP:0005918	Abnormal finger phalanx morphology	10464	PIBF1	ORPHA:475
HP:0005918	Abnormal finger phalanx morphology	80210	ARMC9	ORPHA:475
HP:0005918	Abnormal finger phalanx morphology	23116	TOGARAM1	ORPHA:475
HP:0005918	Abnormal finger phalanx morphology	25776	CBY1	ORPHA:475
HP:0005918	Abnormal finger phalanx morphology	27077	B9D1	ORPHA:475
HP:0005918	Abnormal finger phalanx morphology	403	ARL3	ORPHA:475
HP:0005918	Abnormal finger phalanx morphology	80173	IFT74	ORPHA:475
HP:0005918	Abnormal finger phalanx morphology	65062	TMEM237	ORPHA:475
HP:0005918	Abnormal finger phalanx morphology	65062	TMEM237	ORPHA:220497
HP:0005918	Abnormal finger phalanx morphology	65062	TMEM237	ORPHA:2318
HP:0005918	Abnormal finger phalanx morphology	10682	EBP	ORPHA:401973
HP:0005918	Abnormal finger phalanx morphology	5626	PROP1	ORPHA:226307
HP:0005918	Abnormal finger phalanx morphology	89884	LHX4	ORPHA:226307
HP:0005918	Abnormal finger phalanx morphology	8022	LHX3	ORPHA:226307
HP:0005918	Abnormal finger phalanx morphology	5449	POU1F1	ORPHA:226307
HP:0005918	Abnormal finger phalanx morphology	8820	HESX1	ORPHA:226307
HP:0005918	Abnormal finger phalanx morphology	5290	PIK3CA	ORPHA:60040
HP:0005918	Abnormal finger phalanx morphology	10908	PNPLA6	ORPHA:2377
HP:0005918	Abnormal finger phalanx morphology	51	ACOX1	ORPHA:2971
HP:0005918	Abnormal finger phalanx morphology	7547	ZIC3	OMIM:314390
HP:0005918	Abnormal finger phalanx morphology	2187	FANCB	OMIM:314390
HP:0005918	Abnormal finger phalanx morphology	23322	RPGRIP1L	ORPHA:220497
HP:0005918	Abnormal finger phalanx morphology	4867	NPHP1	ORPHA:220497
HP:0005918	Abnormal finger phalanx morphology	641	BLM	OMIM:210900
HP:0005918	Abnormal finger phalanx morphology	2314	FLII	ORPHA:819
HP:0005918	Abnormal finger phalanx morphology	23096	IQSEC2	ORPHA:819
HP:0005918	Abnormal finger phalanx morphology	10743	RAI1	ORPHA:819
HP:0005918	Abnormal finger phalanx morphology	10522	DEAF1	ORPHA:819
HP:0005918	Abnormal finger phalanx morphology	26154	ABCA12	ORPHA:457
HP:0005918	Abnormal finger phalanx morphology	8241	RBM10	ORPHA:2886
HP:0005918	Abnormal finger phalanx morphology	10225	CD96	ORPHA:1308
HP:0005918	Abnormal finger phalanx morphology	1312	COMT	ORPHA:567
HP:0005918	Abnormal finger phalanx morphology	221037	JMJD1C	ORPHA:567
HP:0005918	Abnormal finger phalanx morphology	2812	GP1BB	ORPHA:567
HP:0005918	Abnormal finger phalanx morphology	6239	RREB1	ORPHA:567
HP:0005918	Abnormal finger phalanx morphology	6899	TBX1	ORPHA:567
HP:0005918	Abnormal finger phalanx morphology	7290	HIRA	ORPHA:567
HP:0005918	Abnormal finger phalanx morphology	9632	SEC24C	ORPHA:567
HP:0005918	Abnormal finger phalanx morphology	7353	UFD1	ORPHA:567
HP:0005918	Abnormal finger phalanx morphology	421	ARVCF	ORPHA:567
HP:0005918	Abnormal finger phalanx morphology	79583	TMEM231	ORPHA:2318
HP:0005918	Abnormal finger phalanx morphology	79583	TMEM231	ORPHA:2754
HP:0005918	Abnormal finger phalanx morphology	51524	TMEM138	ORPHA:2318
HP:0005918	Abnormal finger phalanx morphology	23090	ZNF423	ORPHA:2318
HP:0005918	Abnormal finger phalanx morphology	80184	CEP290	ORPHA:2318
HP:0005918	Abnormal finger phalanx morphology	51259	TMEM216	ORPHA:2318
HP:0005918	Abnormal finger phalanx morphology	51259	TMEM216	ORPHA:2754
HP:0005918	Abnormal finger phalanx morphology	57545	CC2D2A	ORPHA:2318
HP:0005918	Abnormal finger phalanx morphology	10210	TOPORS	ORPHA:2754
HP:0005918	Abnormal finger phalanx morphology	317662	FAM149B1	ORPHA:2754
HP:0005918	Abnormal finger phalanx morphology	374654	KIF7	ORPHA:2754
HP:0005918	Abnormal finger phalanx morphology	9897	WASHC5	ORPHA:7
HP:0005918	Abnormal finger phalanx morphology	57020	VPS35L	ORPHA:7
HP:0005918	Abnormal finger phalanx morphology	56896	DPYSL5	ORPHA:7
HP:0005918	Abnormal finger phalanx morphology	5566	PRKACA	ORPHA:289
HP:0005918	Abnormal finger phalanx morphology	5567	PRKACB	ORPHA:289
HP:0005918	Abnormal finger phalanx morphology	2735	GLI1	ORPHA:289
HP:0005918	Abnormal finger phalanx morphology	2121	EVC	ORPHA:289
HP:0005918	Abnormal finger phalanx morphology	51626	DYNC2LI1	ORPHA:289
HP:0005918	Abnormal finger phalanx morphology	132884	EVC2	ORPHA:289
HP:0005918	Abnormal finger phalanx morphology	25970	SH2B1	ORPHA:261197
HP:0005918	Abnormal finger phalanx morphology	55636	CHD7	OMIM:214800
HP:0005918	Abnormal finger phalanx morphology	2313	FLI1	ORPHA:2308
HP:0005918	Abnormal finger phalanx morphology	6309	SC5D	ORPHA:46059
HP:0005918	Abnormal finger phalanx morphology	6309	SC5D	OMIM:607330
HP:0005918	Abnormal finger phalanx morphology	894	CCND2	ORPHA:83473
HP:0005918	Abnormal finger phalanx morphology	894	CCND2	OMIM:615938
HP:0005918	Abnormal finger phalanx morphology	5296	PIK3R2	ORPHA:83473
HP:0005918	Abnormal finger phalanx morphology	10000	AKT3	ORPHA:83473
HP:0005918	Abnormal finger phalanx morphology	10000	AKT3	OMIM:615937
HP:0005918	Abnormal finger phalanx morphology	55593	OTUD5	OMIM:301056
HP:0005918	Abnormal finger phalanx morphology	55112	DYNC2I1	ORPHA:93271
HP:0005918	Abnormal finger phalanx morphology	55112	DYNC2I1	ORPHA:474
HP:0005918	Abnormal finger phalanx morphology	57560	IFT80	ORPHA:93271
HP:0005918	Abnormal finger phalanx morphology	57560	IFT80	ORPHA:474
HP:0005918	Abnormal finger phalanx morphology	57560	IFT80	OMIM:611263
HP:0005918	Abnormal finger phalanx morphology	79659	DYNC2H1	ORPHA:93271
HP:0005918	Abnormal finger phalanx morphology	79659	DYNC2H1	ORPHA:474
HP:0005918	Abnormal finger phalanx morphology	89891	DYNC2I2	ORPHA:93271
HP:0005918	Abnormal finger phalanx morphology	89891	DYNC2I2	ORPHA:474
HP:0005918	Abnormal finger phalanx morphology	83479	DDX59	OMIM:174300
HP:0005918	Abnormal finger phalanx morphology	83479	DDX59	ORPHA:2919
HP:0005918	Abnormal finger phalanx morphology	4149	MAX	OMIM:620712
HP:0005918	Abnormal finger phalanx morphology	1717	DHCR7	ORPHA:818
HP:0005918	Abnormal finger phalanx morphology	1717	DHCR7	OMIM:270400
HP:0005918	Abnormal finger phalanx morphology	83871	RAB34	OMIM:620718
HP:0005918	Abnormal finger phalanx morphology	79140	CCDC28B	OMIM:209900
HP:0005918	Abnormal finger phalanx morphology	84314	TMEM107	ORPHA:564
HP:0005918	Abnormal finger phalanx morphology	84314	TMEM107	OMIM:617563
HP:0005918	Abnormal finger phalanx morphology	57096	RPGRIP1	ORPHA:564
HP:0005918	Abnormal finger phalanx morphology	79770	TXNDC15	ORPHA:564
HP:0005918	Abnormal finger phalanx morphology	79770	TXNDC15	OMIM:619879
HP:0005918	Abnormal finger phalanx morphology	285600	KIAA0825	OMIM:618498
HP:0005918	Abnormal finger phalanx morphology	26005	C2CD3	OMIM:615948
HP:0005918	Abnormal finger phalanx morphology	26005	C2CD3	ORPHA:434179
HP:0005918	Abnormal finger phalanx morphology	79809	TTC21B	ORPHA:474
HP:0005918	Abnormal finger phalanx morphology	79005	SCNM1	OMIM:620107
HP:0005918	Abnormal finger phalanx morphology	54499	TMCO1	OMIM:213980
HP:0005918	Abnormal finger phalanx morphology	2736	GLI2	OMIM:610829
HP:0005918	Abnormal finger phalanx morphology	9373	PLAA	ORPHA:521426
HP:0005918	Abnormal finger phalanx morphology	23288	IQCE	OMIM:617642
HP:0005918	Abnormal finger phalanx morphology	137392	CIBAR1	OMIM:618219
HP:0005918	Abnormal finger phalanx morphology	255758	DYNLT2B	OMIM:617405
HP:0005918	Abnormal finger phalanx morphology	1123	CHN1	ORPHA:233
HP:0005918	Abnormal finger phalanx morphology	55027	HEATR3	OMIM:620072
HP:0005918	Abnormal finger phalanx morphology	374879	ZNF699	OMIM:619488
HP:0005918	Abnormal finger phalanx morphology	220296	HEPACAM	ORPHA:210548
HP:0005918	Abnormal finger phalanx morphology	57688	ZSWIM6	OMIM:603671
HP:0005918	Abnormal finger phalanx morphology	2177	FANCD2	OMIM:227646
HP:0005918	Abnormal finger phalanx morphology	23133	PHF8	ORPHA:85287
HP:0005918	Abnormal finger phalanx morphology	7020	TFAP2A	OMIM:113620
HP:0005918	Abnormal finger phalanx morphology	7020	TFAP2A	ORPHA:1297
HP:0005918	Abnormal finger phalanx morphology	10815	CPLX1	ORPHA:280
HP:0005918	Abnormal finger phalanx morphology	10815	CPLX1	OMIM:194190
HP:0005918	Abnormal finger phalanx morphology	54872	PIGG	ORPHA:280
HP:0005918	Abnormal finger phalanx morphology	7469	NELFA	ORPHA:280
HP:0005918	Abnormal finger phalanx morphology	1487	CTBP1	ORPHA:280
HP:0005918	Abnormal finger phalanx morphology	1487	CTBP1	OMIM:194190
HP:0005918	Abnormal finger phalanx morphology	3954	LETM1	ORPHA:280
HP:0005918	Abnormal finger phalanx morphology	3954	LETM1	OMIM:194190
HP:0005918	Abnormal finger phalanx morphology	7468	NSD2	ORPHA:280
HP:0005918	Abnormal finger phalanx morphology	7468	NSD2	OMIM:194190
HP:0005918	Abnormal finger phalanx morphology	53834	FGFRL1	OMIM:194190
HP:0005918	Abnormal finger phalanx morphology	9343	EFTUD2	OMIM:610536
HP:0005918	Abnormal finger phalanx morphology	9343	EFTUD2	ORPHA:79113
HP:0005918	Abnormal finger phalanx morphology	91179	SCARF2	OMIM:600920
HP:0005918	Abnormal finger phalanx morphology	7021	TFAP2B	ORPHA:46627
HP:0005918	Abnormal finger phalanx morphology	9698	PUM1	OMIM:620719
HP:0005918	Abnormal finger phalanx morphology	3481	IGF2	OMIM:180860
HP:0005918	Abnormal finger phalanx morphology	51199	NIN	ORPHA:319675
HP:0005918	Abnormal finger phalanx morphology	51199	NIN	OMIM:614851
HP:0005918	Abnormal finger phalanx morphology	2783	GNB2	OMIM:619503
HP:0005918	Abnormal finger phalanx morphology	5932	RBBP8	OMIM:251255
HP:0005918	Abnormal finger phalanx morphology	6598	SMARCB1	OMIM:614608
HP:0005918	Abnormal finger phalanx morphology	8838	CCN6	ORPHA:1159
HP:0005918	Abnormal finger phalanx morphology	4088	SMAD3	ORPHA:284984
HP:0005918	Abnormal finger phalanx morphology	4148	MATN3	ORPHA:93311
HP:0005918	Abnormal finger phalanx morphology	55628	ZNF407	OMIM:619557
HP:0005918	Abnormal finger phalanx morphology	23219	FBXO28	OMIM:619777
HP:0005918	Abnormal finger phalanx morphology	84265	POLR3GL	OMIM:619234
HP:0005918	Abnormal finger phalanx morphology	10297	APC2	ORPHA:821
HP:0005918	Abnormal finger phalanx morphology	92482	BBIP1	ORPHA:110
HP:0005918	Abnormal finger phalanx morphology	11020	IFT27	ORPHA:110
HP:0005918	Abnormal finger phalanx morphology	582	BBS1	ORPHA:110
HP:0005918	Abnormal finger phalanx morphology	49855	SCAPER	ORPHA:110
HP:0005918	Abnormal finger phalanx morphology	51057	WDPCP	ORPHA:110
HP:0005918	Abnormal finger phalanx morphology	132320	SCLT1	ORPHA:110
HP:0005918	Abnormal finger phalanx morphology	27241	BBS9	ORPHA:110
HP:0005918	Abnormal finger phalanx morphology	84984	CEP19	ORPHA:110
HP:0005918	Abnormal finger phalanx morphology	22954	TRIM32	ORPHA:110
HP:0005918	Abnormal finger phalanx morphology	79738	BBS10	ORPHA:110
HP:0005918	Abnormal finger phalanx morphology	123016	TTC8	ORPHA:110
HP:0005918	Abnormal finger phalanx morphology	583	BBS2	ORPHA:110
HP:0005918	Abnormal finger phalanx morphology	585	BBS4	ORPHA:110
HP:0005918	Abnormal finger phalanx morphology	8195	MKKS	ORPHA:110
HP:0005918	Abnormal finger phalanx morphology	54585	LZTFL1	ORPHA:110
HP:0005918	Abnormal finger phalanx morphology	55212	BBS7	ORPHA:110
HP:0005918	Abnormal finger phalanx morphology	166379	BBS12	ORPHA:110
HP:0005918	Abnormal finger phalanx morphology	10806	SDCCAG8	ORPHA:110
HP:0005918	Abnormal finger phalanx morphology	157657	CFAP418	ORPHA:110
HP:0005918	Abnormal finger phalanx morphology	84100	ARL6	ORPHA:110
HP:0005918	Abnormal finger phalanx morphology	129880	BBS5	ORPHA:110
HP:0005918	Abnormal finger phalanx morphology	1147	CHUK	OMIM:619339
HP:0005918	Abnormal finger phalanx morphology	55777	MBD5	OMIM:156200
HP:0005918	Abnormal finger phalanx morphology	4613	MYCN	ORPHA:391641
HP:0005918	Abnormal finger phalanx morphology	4613	MYCN	OMIM:620748
HP:0005918	Abnormal finger phalanx morphology	4613	MYCN	OMIM:164280
HP:0005918	Abnormal finger phalanx morphology	5422	POLA1	OMIM:301030
HP:0005918	Abnormal finger phalanx morphology	652	BMP4	OMIM:607932
HP:0005918	Abnormal finger phalanx morphology	8085	KMT2D	ORPHA:2322
HP:0005918	Abnormal finger phalanx morphology	7403	KDM6A	ORPHA:2322
HP:0005918	Abnormal finger phalanx morphology	5116	PCNT	OMIM:210720
HP:0005918	Abnormal finger phalanx morphology	22995	CEP152	OMIM:613823
HP:0005918	Abnormal finger phalanx morphology	57572	DOCK6	OMIM:614219
HP:0005918	Abnormal finger phalanx morphology	55081	IFT57	OMIM:617927
HP:0005918	Abnormal finger phalanx morphology	407975	MIR17HG	ORPHA:391646
HP:0005918	Abnormal finger phalanx morphology	825	CAPN3	ORPHA:267
HP:0005918	Abnormal finger phalanx morphology	113179	ADAT3	ORPHA:363528
HP:0005918	Abnormal finger phalanx morphology	51305	KCNK9	ORPHA:166108
HP:0005918	Abnormal finger phalanx morphology	22880	MORC2	ORPHA:466768
HP:0005918	Abnormal finger phalanx morphology	6329	SCN4A	OMIM:620351
HP:0005918	Abnormal finger phalanx morphology	9401	RECQL4	OMIM:218600
HP:0005918	Abnormal finger phalanx morphology	1280	COL2A1	OMIM:619248
HP:0005918	Abnormal finger phalanx morphology	57167	SALL4	OMIM:147750
HP:0005918	Abnormal finger phalanx morphology	54332	GDAP1	ORPHA:99948
HP:0005918	Abnormal finger phalanx morphology	84295	PHF6	OMIM:301900
HP:0005918	Abnormal finger phalanx morphology	84992	PIGY	ORPHA:247262
HP:0005918	Abnormal finger phalanx morphology	84992	PIGY	OMIM:616809
HP:0005918	Abnormal finger phalanx morphology	84720	PIGO	ORPHA:247262
HP:0005918	Abnormal finger phalanx morphology	84720	PIGO	OMIM:614749
HP:0005918	Abnormal finger phalanx morphology	93210	PGAP3	ORPHA:247262
HP:0005918	Abnormal finger phalanx morphology	93210	PGAP3	OMIM:615716
HP:0005918	Abnormal finger phalanx morphology	284098	PIGW	ORPHA:247262
HP:0005918	Abnormal finger phalanx morphology	27315	PGAP2	ORPHA:247262
HP:0005918	Abnormal finger phalanx morphology	27315	PGAP2	OMIM:614207
HP:0005918	Abnormal finger phalanx morphology	2972	BRF1	OMIM:616202
HP:0005918	Abnormal finger phalanx morphology	29929	ALG6	ORPHA:79320
HP:0005918	Abnormal finger phalanx morphology	5447	POR	ORPHA:95699
HP:0005918	Abnormal finger phalanx morphology	3835	KIF22	OMIM:603546
HP:0005918	Abnormal finger phalanx morphology	6197	RPS6KA3	OMIM:303600
HP:0005918	Abnormal finger phalanx morphology	3376	IARS1	ORPHA:541423
HP:0005918	Abnormal finger phalanx morphology	79068	FTO	OMIM:612938
HP:0005918	Abnormal finger phalanx morphology	4256	MGP	OMIM:245150
HP:0005918	Abnormal finger phalanx morphology	22856	CHSY1	ORPHA:363417
HP:0005918	Abnormal finger phalanx morphology	2316	FLNA	OMIM:305620
HP:0005918	Abnormal finger phalanx morphology	64324	NSD1	OMIM:117550
HP:0005918	Abnormal finger phalanx morphology	51776	MAP3K20	OMIM:616890
HP:0005918	Abnormal finger phalanx morphology	7994	KAT6A	OMIM:616268
HP:0005918	Abnormal finger phalanx morphology	3549	IHH	OMIM:112500
HP:0005918	Abnormal finger phalanx morphology	7466	WFS1	OMIM:222300
HP:0005918	Abnormal finger phalanx morphology	54829	ASPN	OMIM:607850
HP:0005918	Abnormal finger phalanx morphology	1302	COL11A2	OMIM:215150
HP:0005918	Abnormal finger phalanx morphology	7703	PCGF2	OMIM:618371
HP:0005918	Abnormal finger phalanx morphology	6595	SMARCA2	OMIM:601358
HP:0005918	Abnormal finger phalanx morphology	57492	ARID1B	OMIM:135900
HP:0005918	Abnormal finger phalanx morphology	6874	TAF4	OMIM:620450
HP:0005918	Abnormal finger phalanx morphology	6597	SMARCA4	OMIM:614609
HP:0005918	Abnormal finger phalanx morphology	1277	COL1A1	ORPHA:287
HP:0005918	Abnormal finger phalanx morphology	1289	COL5A1	ORPHA:287
HP:0005918	Abnormal finger phalanx morphology	1290	COL5A2	ORPHA:287
HP:0005918	Abnormal finger phalanx morphology	126792	B3GALT6	ORPHA:536467
HP:0005918	Abnormal finger phalanx morphology	11285	B4GALT7	OMIM:130070
HP:0005918	Abnormal finger phalanx morphology	165	AEBP1	ORPHA:536532
HP:0005918	Abnormal finger phalanx morphology	124583	CANT1	OMIM:251450
HP:0005918	Abnormal finger phalanx morphology	83452	RAB33B	OMIM:615222
HP:0005918	Abnormal finger phalanx morphology	3586	IL10	OMIM:180300
HP:0005918	Abnormal finger phalanx morphology	6583	SLC22A4	OMIM:180300
HP:0005918	Abnormal finger phalanx morphology	26191	PTPN22	OMIM:180300
HP:0005918	Abnormal finger phalanx morphology	4261	CIITA	OMIM:180300
HP:0005918	Abnormal finger phalanx morphology	51744	CD244	OMIM:180300
HP:0005918	Abnormal finger phalanx morphology	4795	NFKBIL1	OMIM:180300
HP:0005918	Abnormal finger phalanx morphology	4313	MMP2	OMIM:259600
HP:0005918	Abnormal finger phalanx morphology	3861	KRT14	ORPHA:69087
HP:0005918	Abnormal finger phalanx morphology	1080	CFTR	ORPHA:498359
HP:0005918	Abnormal finger phalanx morphology	10765	KDM5B	OMIM:618109
HP:0005918	Abnormal finger phalanx morphology	10093	ARPC4	OMIM:620141
HP:0005918	Abnormal finger phalanx morphology	11011	TLK2	OMIM:618050
HP:0005918	Abnormal finger phalanx morphology	6909	TBX2	OMIM:618223
HP:0005918	Abnormal finger phalanx morphology	90459	ERI1	OMIM:620662
HP:0005918	Abnormal finger phalanx morphology	80816	ASXL3	OMIM:615485
HP:0005918	Abnormal finger phalanx morphology	2122	MECOM	OMIM:616738
HP:0005918	Abnormal finger phalanx morphology	7700	ZNF141	OMIM:615226
HP:0005918	Abnormal finger phalanx morphology	50814	NSDHL	OMIM:308050
HP:0005918	Abnormal finger phalanx morphology	81857	MED25	ORPHA:464738
HP:0005918	Abnormal finger phalanx morphology	8243	SMC1A	OMIM:301044
HP:0005918	Abnormal finger phalanx morphology	23327	NEDD4L	OMIM:617201
HP:0005918	Abnormal finger phalanx morphology	8985	PLOD3	OMIM:612394
HP:0005918	Abnormal finger phalanx morphology	6134	RPL10	OMIM:300998
HP:0005918	Abnormal finger phalanx morphology	55012	PPP2R3C	OMIM:618419
HP:0005918	Abnormal finger phalanx morphology	5053	PAH	ORPHA:2209
HP:0005918	Abnormal finger phalanx morphology	10084	PQBP1	OMIM:309500
HP:0005918	Abnormal finger phalanx morphology	4841	NONO	OMIM:300967
HP:0005918	Abnormal finger phalanx morphology	2778	GNAS	ORPHA:79443
HP:0005918	Abnormal finger phalanx morphology	2778	GNAS	ORPHA:79444
HP:0005918	Abnormal finger phalanx morphology	5727	PTCH1	OMIM:109400
HP:0005918	Abnormal finger phalanx morphology	10262	SF3B4	OMIM:154400
HP:0005918	Abnormal finger phalanx morphology	9898	UBAP2L	OMIM:620494
HP:0005918	Abnormal finger phalanx morphology	23019	CNOT1	ORPHA:556955
HP:0005918	Abnormal finger phalanx morphology	7204	TRIO	ORPHA:476126
HP:0005918	Abnormal finger phalanx morphology	7476	WNT7A	OMIM:276820
HP:0005918	Abnormal finger phalanx morphology	7476	WNT7A	OMIM:228930
HP:0005918	Abnormal finger phalanx morphology	9487	PIGL	ORPHA:3474
HP:0005918	Abnormal finger phalanx morphology	8626	TP63	OMIM:605289
HP:0005918	Abnormal finger phalanx morphology	80144	FRAS1	OMIM:219000
HP:0005918	Abnormal finger phalanx morphology	2137	EXTL3	ORPHA:508533
HP:0005918	Abnormal finger phalanx morphology	2200	FBN1	OMIM:608328
HP:0005918	Abnormal finger phalanx morphology	81794	ADAMTS10	OMIM:277600
HP:0005918	Abnormal finger phalanx morphology	79158	GNPTAB	OMIM:252500
HP:0005918	Abnormal finger phalanx morphology	1281	COL3A1	OMIM:130050
HP:0005918	Abnormal finger phalanx morphology	64135	IFIH1	OMIM:182250
HP:0005918	Abnormal finger phalanx morphology	4000	LMNA	ORPHA:280365
HP:0005918	Abnormal finger phalanx morphology	4000	LMNA	ORPHA:79474
HP:0005918	Abnormal finger phalanx morphology	65125	WNK1	OMIM:201300
HP:0005918	Abnormal finger phalanx morphology	54463	RETREG1	OMIM:201300
HP:0005918	Abnormal finger phalanx morphology	54463	RETREG1	OMIM:613115
HP:0005918	Abnormal finger phalanx morphology	6335	SCN9A	OMIM:201300
HP:0005918	Abnormal finger phalanx morphology	547	KIF1A	OMIM:201300
HP:0005918	Abnormal finger phalanx morphology	1075	CTSC	OMIM:245010
HP:0005918	Abnormal finger phalanx morphology	10651	MTX2	OMIM:619127
HP:0005918	Abnormal finger phalanx morphology	4921	DDR2	OMIM:618175
HP:0005918	Abnormal finger phalanx morphology	23586	RIGI	OMIM:616298
HP:0005918	Abnormal finger phalanx morphology	25923	ATL3	OMIM:615632
HP:0005918	Abnormal finger phalanx morphology	427	ASAH1	OMIM:228000
HP:0005918	Abnormal finger phalanx morphology	4853	NOTCH2	OMIM:102500
HP:0005918	Abnormal finger phalanx morphology	3248	HPGD	OMIM:259100
HP:0005918	Abnormal finger phalanx morphology	9241	NOG	OMIM:186500
HP:0005918	Abnormal finger phalanx morphology	9241	NOG	ORPHA:140908
HP:0005918	Abnormal finger phalanx morphology	9241	NOG	ORPHA:3237
HP:0005918	Abnormal finger phalanx morphology	727857	BHLHA9	ORPHA:157801
HP:0005918	Abnormal finger phalanx morphology	9791	PTDSS1	ORPHA:2658
HP:0005918	Abnormal finger phalanx morphology	3239	HOXD13	ORPHA:93409
HP:0005918	Abnormal finger phalanx morphology	2263	FGFR2	ORPHA:1540
HP:0005918	Abnormal finger phalanx morphology	4621	MYH3	ORPHA:2990
HP:0005918	Abnormal finger phalanx morphology	1146	CHRNG	ORPHA:2990
HP:0005918	Abnormal finger phalanx morphology	8200	GDF5	ORPHA:93384
HP:0005918	Abnormal finger phalanx morphology	8200	GDF5	ORPHA:3237
HP:0005918	Abnormal finger phalanx morphology	658	BMPR1B	ORPHA:93384
HP:0005918	Abnormal finger phalanx morphology	1836	SLC26A2	ORPHA:628
HP:0005918	Abnormal finger phalanx morphology	4626	MYH8	ORPHA:3377
HP:0005918	Abnormal finger phalanx morphology	2254	FGF9	ORPHA:3237
HP:0005918	Abnormal finger phalanx morphology	50515	CHST11	OMIM:618167
HP:0005918	Abnormal finger phalanx morphology	9361	LONP1	OMIM:600373
HP:0005918	Abnormal finger phalanx morphology	3590	IL11RA	OMIM:614188
HP:0005918	Abnormal finger phalanx morphology	1763	DNA2	OMIM:620819
HP:0005918	Abnormal finger phalanx morphology	5593	PRKG2	OMIM:619636
HP:0005918	Abnormal finger phalanx morphology	55733	HHAT	OMIM:600092
HP:0005918	Abnormal finger phalanx morphology	55733	HHAT	ORPHA:1422
HP:0005918	Abnormal finger phalanx morphology	3636	INPPL1	OMIM:258480
HP:0005918	Abnormal finger phalanx morphology	5130	PCYT1A	ORPHA:85167
HP:0005918	Abnormal finger phalanx morphology	5139	PDE3A	ORPHA:1276
HP:0005918	Abnormal finger phalanx morphology	5139	PDE3A	OMIM:112410
HP:0005918	Abnormal finger phalanx morphology	6662	SOX9	OMIM:114290
HP:0005918	Abnormal finger phalanx morphology	4297	KMT2A	OMIM:605130
HP:0005918	Abnormal finger phalanx morphology	3417	IDH1	ORPHA:99646
HP:0005918	Abnormal finger phalanx morphology	9759	HDAC4	OMIM:600430
HP:0005918	Abnormal finger phalanx morphology	3930	LBR	OMIM:215140
HP:0005918	Abnormal finger phalanx morphology	4810	NHS	OMIM:302350
HP:0005918	Abnormal finger phalanx morphology	1788	DNMT3A	OMIM:618724
HP:0005918	Abnormal finger phalanx morphology	3759	KCNJ2	OMIM:170390
HP:0005918	Abnormal finger phalanx morphology	9939	RBM8A	OMIM:274000
HP:0005918	Abnormal finger phalanx morphology	1807	DPYS	OMIM:222748
HP:0005918	Abnormal finger phalanx morphology	5745	PTH1R	ORPHA:79106
HP:0005918	Abnormal finger phalanx morphology	9509	ADAMTS2	OMIM:225410
HP:0005918	Abnormal finger phalanx morphology	9775	EIF4A3	OMIM:268305
HP:0005918	Abnormal finger phalanx morphology	54101	RIPK4	OMIM:263650
HP:0005918	Abnormal finger phalanx morphology	5144	PDE4D	ORPHA:439822
HP:0005918	Abnormal finger phalanx morphology	5144	PDE4D	OMIM:614613
HP:0005918	Abnormal finger phalanx morphology	64682	ANAPC1	ORPHA:221008
HP:0005918	Abnormal finger phalanx morphology	100151683	RNU4ATAC	ORPHA:2636
HP:0005918	Abnormal finger phalanx morphology	22930	RAB3GAP1	ORPHA:1387
HP:0005918	Abnormal finger phalanx morphology	25782	RAB3GAP2	ORPHA:1387
HP:0005918	Abnormal finger phalanx morphology	9555	MACROH2A1	ORPHA:1275
HP:0005918	Abnormal finger phalanx morphology	5307	PITX1	ORPHA:1275
HP:0005918	Abnormal finger phalanx morphology	6023	RMRP	ORPHA:175
HP:0005918	Abnormal finger phalanx morphology	388015	RTL1	ORPHA:96334
HP:0005918	Abnormal finger phalanx morphology	8788	DLK1	ORPHA:96334
HP:0005918	Abnormal finger phalanx morphology	55384	MEG3	ORPHA:96334
HP:0005918	Abnormal finger phalanx morphology	1387	CREBBP	ORPHA:353277
HP:0005918	Abnormal finger phalanx morphology	1387	CREBBP	ORPHA:353281
HP:0005918	Abnormal finger phalanx morphology	2033	EP300	ORPHA:353284
HP:0005918	Abnormal finger phalanx morphology	9896	FIG4	OMIM:216340
HP:0005918	Abnormal finger phalanx morphology	9949	AMMECR1	OMIM:300990
HP:0005918	Abnormal finger phalanx morphology	9653	HS2ST1	OMIM:619194
HP:0005918	Abnormal finger phalanx morphology	80204	FBXO11	OMIM:618089
HP:0005918	Abnormal finger phalanx morphology	2317	FLNB	ORPHA:503
HP:0005918	Abnormal finger phalanx morphology	55209	SETD5	ORPHA:404440
HP:0005918	Abnormal finger phalanx morphology	55209	SETD5	OMIM:615761
HP:0005918	Abnormal finger phalanx morphology	57459	GATAD2B	ORPHA:363686
HP:0005918	Abnormal finger phalanx morphology	23404	EXOSC2	OMIM:617763
HP:0005918	Abnormal finger phalanx morphology	57728	WDR19	OMIM:614378
HP:0005918	Abnormal finger phalanx morphology	79971	WLS	OMIM:619648
HP:0005918	Abnormal finger phalanx morphology	4038	LRP4	ORPHA:3152
HP:0005918	Abnormal finger phalanx morphology	50964	SOST	ORPHA:3152
HP:0005918	Abnormal finger phalanx morphology	1513	CTSK	ORPHA:763
HP:0005918	Abnormal finger phalanx morphology	1513	CTSK	OMIM:265800
HP:0005918	Abnormal finger phalanx morphology	8815	BANF1	OMIM:614008
HP:0005918	Abnormal finger phalanx morphology	5159	PDGFRB	OMIM:601812
HP:0005918	Abnormal finger phalanx morphology	25871	NEPRO	OMIM:618853
HP:0005918	Abnormal finger phalanx morphology	1300	COL10A1	OMIM:156500
HP:0005918	Abnormal finger phalanx morphology	5293	PIK3CD	ORPHA:221139
HP:0005918	Abnormal finger phalanx morphology	90417	KNSTRN	ORPHA:221139
HP:0005918	Abnormal finger phalanx morphology	4784	NFIX	OMIM:602535
HP:0005918	Abnormal finger phalanx morphology	6792	CDKL5	ORPHA:505652
HP:0005918	Abnormal finger phalanx morphology	26229	B3GAT3	OMIM:245600
HP:0005918	Abnormal finger phalanx morphology	55697	VAC14	ORPHA:3472
HP:0005918	Abnormal finger phalanx morphology	9488	PIGB	OMIM:618580
HP:0005918	Abnormal finger phalanx morphology	10617	STAMBP	OMIM:614261
HP:0005918	Abnormal finger phalanx morphology	2335	FN1	ORPHA:93315
HP:0005918	Abnormal finger phalanx morphology	23556	PIGN	ORPHA:2059
HP:0005918	Abnormal finger phalanx morphology	23556	PIGN	OMIM:614080
HP:0005918	Abnormal finger phalanx morphology	10973	ASCC3	OMIM:620700
HP:0005918	Abnormal finger phalanx morphology	51412	ACTL6B	OMIM:618470
HP:0005918	Abnormal finger phalanx morphology	57465	TBC1D24	OMIM:220500
HP:0005918	Abnormal finger phalanx morphology	57465	TBC1D24	ORPHA:79500
HP:0005918	Abnormal finger phalanx morphology	55784	MCTP2	ORPHA:1596
HP:0005918	Abnormal finger phalanx morphology	5744	PTHLH	ORPHA:93387
HP:0005918	Abnormal finger phalanx morphology	3764	KCNJ8	ORPHA:1517
HP:0005918	Abnormal finger phalanx morphology	10060	ABCC9	ORPHA:1517
HP:0005918	Abnormal finger phalanx morphology	57539	WDR35	ORPHA:1515
HP:0005918	Abnormal finger phalanx morphology	57539	WDR35	OMIM:614091
HP:0005918	Abnormal finger phalanx morphology	112752	IFT43	ORPHA:1515
HP:0005918	Abnormal finger phalanx morphology	55764	IFT122	ORPHA:1515
HP:0005918	Abnormal finger phalanx morphology	55764	IFT122	OMIM:218330
HP:0005918	Abnormal finger phalanx morphology	55650	PIGV	OMIM:239300
HP:0005918	Abnormal finger phalanx morphology	29957	SLC25A24	ORPHA:2963
HP:0005918	Abnormal finger phalanx morphology	29957	SLC25A24	ORPHA:2095
HP:0005918	Abnormal finger phalanx morphology	29957	SLC25A24	OMIM:612289
HP:0005918	Abnormal finger phalanx morphology	24140	FTSJ1	OMIM:309549
HP:0005918	Abnormal finger phalanx morphology	54496	PRMT7	OMIM:617157
HP:0005918	Abnormal finger phalanx morphology	8289	ARID1A	OMIM:614607
HP:0005918	Abnormal finger phalanx morphology	3209	HOXA13	ORPHA:2438
HP:0005918	Abnormal finger phalanx morphology	2475	MTOR	OMIM:616638
HP:0005918	Abnormal finger phalanx morphology	9419	CRIPT	OMIM:615789
HP:0005918	Abnormal finger phalanx morphology	3782	KCNN3	OMIM:618658
HP:0005918	Abnormal finger phalanx morphology	26040	SETBP1	OMIM:269150
HP:0005918	Abnormal finger phalanx morphology	26040	SETBP1	ORPHA:798
HP:0005918	Abnormal finger phalanx morphology	54	ACP5	ORPHA:1855
HP:0005918	Abnormal finger phalanx morphology	5281	PIGF	OMIM:619356
HP:0005918	Abnormal finger phalanx morphology	94005	PIGS	OMIM:618143
HP:0005918	Abnormal finger phalanx morphology	2677	GGCX	OMIM:277450
HP:0005918	Abnormal finger phalanx morphology	10283	CWC27	OMIM:250410
HP:0005918	Abnormal finger phalanx morphology	526	ATP6V1B2	ORPHA:79500
HP:0005918	Abnormal finger phalanx morphology	26137	ZBTB20	OMIM:259050
HP:0005918	Abnormal finger phalanx morphology	60401	EDA2R	ORPHA:181
HP:0005918	Abnormal finger phalanx morphology	1896	EDA	ORPHA:181
HP:0005918	Abnormal finger phalanx morphology	182	JAG1	OMIM:118450
HP:0005918	Abnormal finger phalanx morphology	6605	SMARCE1	OMIM:616938
HP:0005918	Abnormal finger phalanx morphology	3516	RBPJ	ORPHA:974
HP:0005918	Abnormal finger phalanx morphology	3516	RBPJ	OMIM:614814
HP:0005918	Abnormal finger phalanx morphology	4851	NOTCH1	ORPHA:974
HP:0005918	Abnormal finger phalanx morphology	57514	ARHGAP31	ORPHA:974
HP:0005918	Abnormal finger phalanx morphology	285203	EOGT	ORPHA:974
HP:0005918	Abnormal finger phalanx morphology	54567	DLL4	ORPHA:974
HP:0005918	Abnormal finger phalanx morphology	1186	CLCN7	ORPHA:53
HP:0005918	Abnormal finger phalanx morphology	6664	SOX11	OMIM:615866
HP:0005918	Abnormal finger phalanx morphology	25886	POC1A	OMIM:614813
HP:0005918	Abnormal finger phalanx morphology	1832	DSP	OMIM:609638
HP:0005918	Abnormal finger phalanx morphology	285175	UNC80	ORPHA:371364
HP:0005918	Abnormal finger phalanx morphology	170689	ADAMTS15	OMIM:620545
HP:0005918	Abnormal finger phalanx morphology	6711	SPTBN1	OMIM:619475
HP:0005918	Abnormal finger phalanx morphology	29089	UBE2T	OMIM:616435
HP:0005918	Abnormal finger phalanx morphology	2255	FGF10	ORPHA:2363
HP:0005918	Abnormal finger phalanx morphology	2176	FANCC	OMIM:227645
HP:0005918	Abnormal finger phalanx morphology	71	ACTG1	ORPHA:2995
HP:0005918	Abnormal finger phalanx morphology	60	ACTB	ORPHA:2995
HP:0005918	Abnormal finger phalanx morphology	2178	FANCE	OMIM:600901
HP:0005918	Abnormal finger phalanx morphology	157570	ESCO2	ORPHA:3103
HP:0005918	Abnormal finger phalanx morphology	6472	SHMT2	OMIM:619121
HP:0005918	Abnormal finger phalanx morphology	2175	FANCA	OMIM:227650
HP:0005918	Abnormal finger phalanx morphology	6138	RPL15	ORPHA:124
HP:0005918	Abnormal finger phalanx morphology	6224	RPS20	ORPHA:124
HP:0005918	Abnormal finger phalanx morphology	6165	RPL35A	ORPHA:124
HP:0005918	Abnormal finger phalanx morphology	6132	RPL8	ORPHA:124
HP:0005918	Abnormal finger phalanx morphology	6223	RPS19	ORPHA:124
HP:0005918	Abnormal finger phalanx morphology	6223	RPS19	OMIM:105650
HP:0005918	Abnormal finger phalanx morphology	6232	RPS27	ORPHA:124
HP:0005918	Abnormal finger phalanx morphology	6160	RPL31	ORPHA:124
HP:0005918	Abnormal finger phalanx morphology	6201	RPS7	ORPHA:124
HP:0005918	Abnormal finger phalanx morphology	6155	RPL27	ORPHA:124
HP:0005918	Abnormal finger phalanx morphology	6234	RPS28	ORPHA:124
HP:0005918	Abnormal finger phalanx morphology	6135	RPL11	ORPHA:124
HP:0005918	Abnormal finger phalanx morphology	6229	RPS24	ORPHA:124
HP:0005918	Abnormal finger phalanx morphology	6125	RPL5	ORPHA:124
HP:0005918	Abnormal finger phalanx morphology	6204	RPS10	ORPHA:124
HP:0005918	Abnormal finger phalanx morphology	2623	GATA1	ORPHA:124
HP:0005918	Abnormal finger phalanx morphology	6133	RPL9	ORPHA:124
HP:0005918	Abnormal finger phalanx morphology	6231	RPS26	ORPHA:124
HP:0005918	Abnormal finger phalanx morphology	11224	RPL35	ORPHA:124
HP:0005918	Abnormal finger phalanx morphology	6218	RPS17	ORPHA:124
HP:0005918	Abnormal finger phalanx morphology	6154	RPL26	ORPHA:124
HP:0005918	Abnormal finger phalanx morphology	6210	RPS15A	ORPHA:124
HP:0005918	Abnormal finger phalanx morphology	90121	TSR2	ORPHA:124
HP:0005918	Abnormal finger phalanx morphology	6141	RPL18	ORPHA:124
HP:0005918	Abnormal finger phalanx morphology	6235	RPS29	ORPHA:124
HP:0005918	Abnormal finger phalanx morphology	51816	ADA2	ORPHA:124
HP:0005918	Abnormal finger phalanx morphology	10992	SF3B2	OMIM:164210
HP:0005918	Abnormal finger phalanx morphology	27152	INTU	OMIM:617926
HP:0005918	Abnormal finger phalanx morphology	22827	PUF60	ORPHA:508498
HP:0005918	Abnormal finger phalanx morphology	23592	LEMD3	ORPHA:1879
HP:0005918	Abnormal finger phalanx morphology	23476	BRD4	ORPHA:199
HP:0005918	Abnormal finger phalanx morphology	23476	BRD4	OMIM:620568
HP:0005918	Abnormal finger phalanx morphology	9126	SMC3	ORPHA:199
HP:0005918	Abnormal finger phalanx morphology	6878	TAF6	ORPHA:199
HP:0005918	Abnormal finger phalanx morphology	25836	NIPBL	ORPHA:199
HP:0005918	Abnormal finger phalanx morphology	55869	HDAC8	ORPHA:199
HP:0005918	Abnormal finger phalanx morphology	90	ACVR1	OMIM:135100
HP:0005918	Abnormal finger phalanx morphology	6091	ROBO1	OMIM:620305
HP:0005918	Abnormal finger phalanx morphology	55215	FANCI	OMIM:609053
HP:0005918	Abnormal finger phalanx morphology	3911	LAMA5	OMIM:620076
HP:0005918	Abnormal finger phalanx morphology	7516	XRCC2	OMIM:617247
HP:0005918	Abnormal finger phalanx morphology	59341	TRPV4	ORPHA:93314
HP:0005918	Abnormal finger phalanx morphology	54808	DYM	OMIM:223800
HP:0005918	Abnormal finger phalanx morphology	4882	NPR2	OMIM:602875
HP:0005918	Abnormal finger phalanx morphology	56992	KIF15	ORPHA:261323
HP:0005918	Abnormal finger phalanx morphology	26160	IFT172	OMIM:615630
HP:0005918	Abnormal finger phalanx morphology	4750	NEK1	ORPHA:2751
HP:0005918	Abnormal finger phalanx morphology	2131	EXT1	ORPHA:502
HP:0005918	Abnormal finger phalanx morphology	5885	RAD21	ORPHA:502
HP:0005918	Abnormal finger phalanx morphology	7227	TRPS1	ORPHA:502
HP:0005918	Abnormal finger phalanx morphology	25839	COG4	OMIM:618150
HP:0005918	Abnormal finger phalanx morphology	25839	COG4	ORPHA:85172
HP:0005918	Abnormal finger phalanx morphology	10847	SRCAP	OMIM:136140
HP:0005918	Abnormal finger phalanx morphology	9742	IFT140	OMIM:617781
HP:0005918	Abnormal finger phalanx morphology	9742	IFT140	OMIM:266920
HP:0005918	Abnormal finger phalanx morphology	633	BGN	OMIM:300106
HP:0005918	Abnormal finger phalanx morphology	860	RUNX2	OMIM:119600
HP:0005918	Abnormal finger phalanx morphology	9321	TRIP11	OMIM:184260
HP:0005918	Abnormal finger phalanx morphology	375056	MIA3	OMIM:619269
HP:0005918	Abnormal finger phalanx morphology	9451	EIF2AK3	OMIM:226980
HP:0005918	Abnormal finger phalanx morphology	2261	FGFR3	OMIM:602849
HP:0005918	Abnormal finger phalanx morphology	545	ATR	OMIM:210600
HP:0005918	Abnormal finger phalanx morphology	406932	MIR140	OMIM:618618
HP:0005918	Abnormal finger phalanx morphology	5573	PRKAR1A	OMIM:101800
HP:0005918	Abnormal finger phalanx morphology	2879	GPX4	OMIM:250220
HP:0005918	Abnormal finger phalanx morphology	6399	TRAPPC2	ORPHA:93284
HP:0005918	Abnormal finger phalanx morphology	2074	ERCC6	OMIM:133540
HP:0005918	Abnormal finger phalanx morphology	1161	ERCC8	OMIM:216400
HP:0005918	Abnormal finger phalanx morphology	4796	TONSL	ORPHA:93357
HP:0005918	Abnormal finger phalanx morphology	1311	COMP	OMIM:177170
HP:0005918	Abnormal finger phalanx morphology	28957	MRPS28	OMIM:618958
HP:0005918	Abnormal finger phalanx morphology	415	ARSL	ORPHA:79345
HP:0005918	Abnormal finger phalanx morphology	4883	NPR3	OMIM:619543
HP:0005918	Abnormal finger phalanx morphology	7291	TWIST1	ORPHA:794
HP:0005918	Abnormal finger phalanx morphology	7291	TWIST1	OMIM:180750
HP:0005918	Abnormal finger phalanx morphology	2737	GLI3	ORPHA:672
HP:0005918	Abnormal finger phalanx morphology	2737	GLI3	ORPHA:380
HP:0005918	Abnormal finger phalanx morphology	2737	GLI3	OMIM:175700
HP:0005918	Abnormal finger phalanx morphology	2737	GLI3	OMIM:174200
HP:0005918	Abnormal finger phalanx morphology	23394	ADNP	ORPHA:404448
HP:0005918	Abnormal finger phalanx morphology	6910	TBX5	ORPHA:392
HP:0005918	Abnormal finger phalanx morphology	6477	SIAH1	OMIM:619314
HP:0005918	Abnormal finger phalanx morphology	10059	DNM1L	OMIM:614388
HP:0005918	Abnormal finger phalanx morphology	23314	SATB2	ORPHA:251028
HP:0005918	Abnormal finger phalanx morphology	23314	SATB2	ORPHA:251019
HP:0005918	Abnormal finger phalanx morphology	23314	SATB2	ORPHA:576283
HP:0005918	Abnormal finger phalanx morphology	6299	SALL1	OMIM:107480
HP:0005918	Abnormal finger phalanx morphology	6299	SALL1	ORPHA:857
HP:0005918	Abnormal finger phalanx morphology	650	BMP2	ORPHA:261295
HP:0005918	Abnormal finger phalanx morphology	3020	H3-3A	OMIM:619720
HP:0005918	Abnormal finger phalanx morphology	29998	BICRA	OMIM:619325
HP:0005918	Abnormal finger phalanx morphology	3021	H3-3B	OMIM:619721
HP:0005918	Abnormal finger phalanx morphology	8239	USP9X	OMIM:300919
HP:0005918	Abnormal finger phalanx morphology	176	ACAN	OMIM:612813
HP:0005918	Abnormal finger phalanx morphology	176	ACAN	ORPHA:171866
HP:0005918	Abnormal finger phalanx morphology	51132	RLIM	OMIM:300978
HP:0005918	Abnormal finger phalanx morphology	92579	G6PC3	OMIM:612541
HP:0005918	Abnormal finger phalanx morphology	29920	PYCR2	ORPHA:481152
HP:0005918	Abnormal finger phalanx morphology	64093	SMOC1	ORPHA:1106
HP:0005918	Abnormal finger phalanx morphology	2626	GATA4	ORPHA:251071
HP:0005918	Abnormal finger phalanx morphology	8726	EED	OMIM:617561
HP:0005918	Abnormal finger phalanx morphology	5718	PSMD12	ORPHA:529962
HP:0005918	Abnormal finger phalanx morphology	2186	BPTF	ORPHA:529962
HP:0005918	Abnormal finger phalanx morphology	4212	MEIS2	OMIM:600987
HP:0005918	Abnormal finger phalanx morphology	5728	PTEN	ORPHA:79076
HP:0005918	Abnormal finger phalanx morphology	5728	PTEN	ORPHA:109
HP:0005918	Abnormal finger phalanx morphology	657	BMPR1A	ORPHA:79076
HP:0005918	Abnormal finger phalanx morphology	3981	LIG4	ORPHA:235
HP:0005918	Abnormal finger phalanx morphology	54888	NSUN2	ORPHA:235
HP:0005918	Abnormal finger phalanx morphology	6608	SMO	OMIM:601707
HP:0005918	Abnormal finger phalanx morphology	6608	SMO	ORPHA:1553
HP:0005918	Abnormal finger phalanx morphology	23126	POGZ	OMIM:616364
HP:0005918	Abnormal finger phalanx morphology	51633	OTUD6B	OMIM:617452
HP:0005918	Abnormal finger phalanx morphology	51633	OTUD6B	ORPHA:505237
HP:0005918	Abnormal finger phalanx morphology	79753	SNIP1	OMIM:614501
HP:0005918	Abnormal finger phalanx morphology	80036	TRPM3	OMIM:620224
HP:0005918	Abnormal finger phalanx morphology	285362	SUMF1	OMIM:272200
HP:0005918	Abnormal finger phalanx morphology	285362	SUMF1	ORPHA:585
HP:0005918	Abnormal finger phalanx morphology	79759	ZNF668	OMIM:620194
HP:0005918	Abnormal finger phalanx morphology	10236	HNRNPR	OMIM:620073
HP:0005918	Abnormal finger phalanx morphology	284252	KCTD1	OMIM:181270
HP:0005918	Abnormal finger phalanx morphology	8481	OFD1	OMIM:300209
HP:0005918	Abnormal finger phalanx morphology	56098	PCDHGC4	OMIM:619880
HP:0005918	Abnormal finger phalanx morphology	51339	DACT1	ORPHA:857
HP:0005918	Abnormal finger phalanx morphology	3756	KCNH1	ORPHA:420561
HP:0005918	Abnormal finger phalanx morphology	3756	KCNH1	OMIM:611816
HP:0005918	Abnormal finger phalanx morphology	4123	MAN2C1	OMIM:619775
HP:0005918	Abnormal finger phalanx morphology	4488	MSX2	ORPHA:60015
HP:0005918	Abnormal finger phalanx morphology	60529	ALX4	ORPHA:60015
HP:0005918	Abnormal finger phalanx morphology	79989	IFT56	OMIM:619534
HP:0005918	Abnormal finger phalanx morphology	5587	PRKD1	OMIM:617364
HP:0005918	Abnormal finger phalanx morphology	2703	GJA8	OMIM:612474
HP:0005918	Abnormal finger phalanx morphology	2702	GJA5	OMIM:612474
HP:0005918	Abnormal finger phalanx morphology	55690	PACS1	ORPHA:329224
HP:0005918	Abnormal finger phalanx morphology	22907	DHX30	OMIM:617804
HP:0005918	Abnormal finger phalanx morphology	865	CBFB	OMIM:620099
HP:0005918	Abnormal finger phalanx morphology	1009	CDH11	OMIM:211380
HP:0005918	Abnormal finger phalanx morphology	2077	ERF	OMIM:617180
HP:0005918	Abnormal finger phalanx morphology	51098	IFT52	OMIM:617102
HP:0005918	Abnormal finger phalanx morphology	2218	FKTN	ORPHA:272
HP:0005918	Abnormal finger phalanx morphology	259232	NALCN	ORPHA:2053
HP:0005918	Abnormal finger phalanx morphology	259232	NALCN	ORPHA:1146
HP:0005918	Abnormal finger phalanx morphology	8294	H4C9	OMIM:619951
HP:0005918	Abnormal finger phalanx morphology	3094	HINT1	ORPHA:324442
HP:0005918	Abnormal finger phalanx morphology	1947	EFNB1	ORPHA:1520
HP:0005918	Abnormal finger phalanx morphology	7355	SLC35A2	ORPHA:356961
HP:0005918	Abnormal finger phalanx morphology	118429	ANTXR2	ORPHA:2176
HP:0005918	Abnormal finger phalanx morphology	5077	PAX3	ORPHA:1529
HP:0005918	Abnormal finger phalanx morphology	5077	PAX3	ORPHA:896
HP:0005918	Abnormal finger phalanx morphology	5077	PAX3	OMIM:148820
HP:0005918	Abnormal finger phalanx morphology	54968	TMEM70	ORPHA:1194
HP:0005918	Abnormal finger phalanx morphology	613	BCR	ORPHA:261330
HP:0005918	Abnormal finger phalanx morphology	1399	CRKL	ORPHA:261330
HP:0005918	Abnormal finger phalanx morphology	5594	MAPK1	ORPHA:261330
HP:0005918	Abnormal finger phalanx morphology	84466	MEGF10	OMIM:614399
HP:0005918	Abnormal finger phalanx morphology	72	ACTG2	ORPHA:2604
HP:0005918	Abnormal finger phalanx morphology	2201	FBN2	OMIM:121050
HP:0005918	Abnormal finger phalanx morphology	2201	FBN2	ORPHA:115
HP:0005918	Abnormal finger phalanx morphology	10216	PRG4	ORPHA:2848
HP:0005918	Abnormal finger phalanx morphology	3508	IGHMBP2	OMIM:604320
HP:0005918	Abnormal finger phalanx morphology	6926	TBX3	ORPHA:3138
HP:0005918	Abnormal finger phalanx morphology	51360	MBTPS2	ORPHA:2273
HP:0005918	Abnormal finger phalanx morphology	10381	TUBB3	OMIM:600638
HP:0005918	Abnormal finger phalanx morphology	9469	CHST3	OMIM:143095
HP:0005918	Abnormal finger phalanx morphology	3423	IDS	ORPHA:217085
HP:0005918	Abnormal finger phalanx morphology	3423	IDS	ORPHA:217093
HP:0005918	Abnormal finger phalanx morphology	64359	NXN	ORPHA:1507
HP:0005918	Abnormal finger phalanx morphology	4920	ROR2	ORPHA:1507
HP:0005918	Abnormal finger phalanx morphology	2697	GJA1	ORPHA:2710
HP:0005918	Abnormal finger phalanx morphology	2697	GJA1	ORPHA:93404
HP:0005918	Abnormal finger phalanx morphology	64127	NOD2	OMIM:186580
HP:0005918	Abnormal finger phalanx morphology	64127	NOD2	ORPHA:90340
HP:0005918	Abnormal finger phalanx morphology	6999	TDO2	OMIM:600627
HP:0005918	Abnormal finger phalanx morphology	1301	COL11A1	ORPHA:2021
HP:0005918	Abnormal finger phalanx morphology	4929	NR4A2	ORPHA:1617
HP:0005918	Abnormal finger phalanx morphology	10716	TBR1	ORPHA:1617
HP:0005918	Abnormal finger phalanx morphology	3425	IDUA	OMIM:607015
HP:0005918	Abnormal finger phalanx morphology	3425	IDUA	ORPHA:93473
HP:0005918	Abnormal finger phalanx morphology	4593	MUSK	OMIM:208150
HP:0005918	Abnormal finger phalanx morphology	4593	MUSK	ORPHA:994
HP:0005918	Abnormal finger phalanx morphology	63895	PIEZO2	OMIM:114300
HP:0005918	Abnormal finger phalanx morphology	63895	PIEZO2	ORPHA:376
HP:0005918	Abnormal finger phalanx morphology	63895	PIEZO2	ORPHA:2461
HP:0005918	Abnormal finger phalanx morphology	56006	SMG9	OMIM:616920
HP:0005918	Abnormal finger phalanx morphology	1857	DVL3	ORPHA:3107
HP:0005918	Abnormal finger phalanx morphology	7474	WNT5A	ORPHA:3107
HP:0005918	Abnormal finger phalanx morphology	1855	DVL1	ORPHA:3107
HP:0005918	Abnormal finger phalanx morphology	2535	FZD2	ORPHA:3107
HP:0005918	Abnormal finger phalanx morphology	9508	ADAMTS3	ORPHA:2136
HP:0005918	Abnormal finger phalanx morphology	147372	CCBE1	ORPHA:2136
HP:0005918	Abnormal finger phalanx morphology	79633	FAT4	ORPHA:2136
HP:0005918	Abnormal finger phalanx morphology	5189	PEX1	ORPHA:3220
HP:0005918	Abnormal finger phalanx morphology	5190	PEX6	ORPHA:3220
HP:0005918	Abnormal finger phalanx morphology	5590	PRKCZ	ORPHA:1606
HP:0005918	Abnormal finger phalanx morphology	2563	GABRD	ORPHA:1606
HP:0005918	Abnormal finger phalanx morphology	23013	SPEN	ORPHA:1606
HP:0005918	Abnormal finger phalanx morphology	8510	MMP23B	ORPHA:1606
HP:0005918	Abnormal finger phalanx morphology	7798	LUZP1	ORPHA:1606
HP:0005918	Abnormal finger phalanx morphology	6497	SKI	ORPHA:1606
HP:0005918	Abnormal finger phalanx morphology	6497	SKI	ORPHA:2462
HP:0005918	Abnormal finger phalanx morphology	10630	PDPN	ORPHA:1606
HP:0005918	Abnormal finger phalanx morphology	3339	HSPG2	ORPHA:1606
HP:0005918	Abnormal finger phalanx morphology	10277	UBE4B	ORPHA:1606
HP:0005918	Abnormal finger phalanx morphology	8514	KCNAB2	ORPHA:1606
HP:0005918	Abnormal finger phalanx morphology	473	RERE	ORPHA:1606
HP:0005918	Abnormal finger phalanx morphology	63976	PRDM16	ORPHA:1606
HP:0005918	Abnormal finger phalanx morphology	54897	CASZ1	ORPHA:1606
HP:0005918	Abnormal finger phalanx morphology	9719	ADAMTSL2	OMIM:231050
HP:0005918	Abnormal finger phalanx morphology	4952	OCRL	OMIM:309000
HP:0005918	Abnormal finger phalanx morphology	8517	IKBKG	ORPHA:464
HP:0005918	Abnormal finger phalanx morphology	10436	EMG1	ORPHA:1270
HP:0005918	Abnormal finger phalanx morphology	11128	POLR3A	ORPHA:3455
HP:0005918	Abnormal finger phalanx morphology	2239	GPC4	ORPHA:373
HP:0005918	Abnormal finger phalanx morphology	2719	GPC3	ORPHA:373
HP:0005918	Abnormal finger phalanx morphology	55612	FERMT1	ORPHA:2908
HP:0005918	Abnormal finger phalanx morphology	3977	LIFR	ORPHA:3206
HP:0005918	Abnormal finger phalanx morphology	23483	TGDS	ORPHA:1388
HP:0005918	Abnormal finger phalanx morphology	2260	FGFR1	OMIM:166250
HP:0005918	Abnormal finger phalanx morphology	7140	TNNT3	ORPHA:1146
HP:0005918	Abnormal finger phalanx morphology	7169	TPM2	ORPHA:1146
HP:0005918	Abnormal finger phalanx morphology	7136	TNNI2	ORPHA:1146
HP:0005918	Abnormal finger phalanx morphology	7136	TNNI2	OMIM:601680
HP:0005918	Abnormal finger phalanx morphology	4604	MYBPC1	ORPHA:1146
HP:0005918	Abnormal finger phalanx morphology	6885	MAP3K7	ORPHA:1826
HP:0005918	Abnormal finger phalanx morphology	117581	TWIST2	ORPHA:920
HP:0005918	Abnormal finger phalanx morphology	23512	SUZ12	ORPHA:3447
HP:0005918	Abnormal finger phalanx morphology	2146	EZH2	ORPHA:3447
HP:0005918	Abnormal finger phalanx morphology	1723	DHODH	ORPHA:246
HP:0005918	Abnormal finger phalanx morphology	257	ALX3	ORPHA:391474
HP:0005918	Abnormal finger phalanx morphology	54903	MKS1	OMIM:249000
HP:0005918	Abnormal finger phalanx morphology	91252	SLC39A13	OMIM:612350
HP:0005918	Abnormal finger phalanx morphology	7046	TGFBR1	ORPHA:60030
HP:0005918	Abnormal finger phalanx morphology	10526	IPO8	ORPHA:60030
HP:0005918	Abnormal finger phalanx morphology	7048	TGFBR2	ORPHA:60030
HP:0005918	Abnormal finger phalanx morphology	7042	TGFB2	ORPHA:60030
HP:0005918	Abnormal finger phalanx morphology	7043	TGFB3	ORPHA:60030
HP:0005918	Abnormal finger phalanx morphology	4087	SMAD2	ORPHA:60030
HP:0005918	Abnormal finger phalanx morphology	3897	L1CAM	ORPHA:2466
HP:0005918	Abnormal finger phalanx morphology	2245	FGD1	ORPHA:915
HP:0005918	Abnormal finger phalanx morphology	27238	GPKOW	ORPHA:2570
HP:0005918	Abnormal finger phalanx morphology	10466	COG5	ORPHA:263487
HP:0005918	Abnormal finger phalanx morphology	55315	SLC29A3	OMIM:602782
HP:0005918	Abnormal finger phalanx morphology	23102	TBC1D2B	OMIM:619323
HP:0005918	Abnormal finger phalanx morphology	2068	ERCC2	OMIM:610756
HP:0005918	Abnormal finger phalanx morphology	2068	ERCC2	ORPHA:1466
HP:0005918	Abnormal finger phalanx morphology	51114	ZDHHC9	ORPHA:776
HP:0005918	Abnormal finger phalanx morphology	65109	UPF3B	ORPHA:776
HP:0005918	Abnormal finger phalanx morphology	9968	MED12	ORPHA:776
HP:0005918	Abnormal finger phalanx morphology	2067	ERCC1	OMIM:610758
HP:0005918	Abnormal finger phalanx morphology	2067	ERCC1	ORPHA:1466
HP:0005918	Abnormal finger phalanx morphology	114548	NLRP3	ORPHA:575
HP:0005918	Abnormal finger phalanx morphology	2073	ERCC5	ORPHA:1466
HP:0005918	Abnormal finger phalanx morphology	134701	RIPPLY2	ORPHA:2311
HP:0005918	Abnormal finger phalanx morphology	10683	DLL3	ORPHA:2311
HP:0005918	Abnormal finger phalanx morphology	3955	LFNG	ORPHA:2311
HP:0005918	Abnormal finger phalanx morphology	84667	HES7	ORPHA:2311
HP:0005918	Abnormal finger phalanx morphology	145873	MESP2	ORPHA:2311
HP:0005918	Abnormal finger phalanx morphology	81620	CDT1	ORPHA:2554
HP:0005918	Abnormal finger phalanx morphology	5000	ORC4	ORPHA:2554
HP:0005918	Abnormal finger phalanx morphology	23594	ORC6	ORPHA:2554
HP:0005918	Abnormal finger phalanx morphology	8318	CDC45	ORPHA:2554
HP:0005918	Abnormal finger phalanx morphology	990	CDC6	ORPHA:2554
HP:0005918	Abnormal finger phalanx morphology	4998	ORC1	ORPHA:2554
HP:0005918	Abnormal finger phalanx morphology	51053	GMNN	ORPHA:2554
HP:0005918	Abnormal finger phalanx morphology	8260	NAA10	ORPHA:568
HP:0005918	Abnormal finger phalanx morphology	54880	BCOR	ORPHA:568
HP:0005918	Abnormal finger phalanx morphology	64327	LMBR1	ORPHA:93405
HP:0005918	Abnormal finger phalanx morphology	6469	SHH	ORPHA:93405
HP:0005918	Abnormal finger phalanx morphology	51715	RAB23	ORPHA:65759
HP:0005918	Abnormal finger phalanx morphology	1954	MEGF8	ORPHA:65759
HP:0005918	Abnormal finger phalanx morphology	55605	KIF21A	ORPHA:994
HP:0005918	Abnormal finger phalanx morphology	4927	NUP88	ORPHA:994
HP:0005918	Abnormal finger phalanx morphology	7846	TUBA1A	ORPHA:994
HP:0005918	Abnormal finger phalanx morphology	4654	MYOD1	ORPHA:994
HP:0005918	Abnormal finger phalanx morphology	54551	MAGEL2	ORPHA:994
HP:0005918	Abnormal finger phalanx morphology	5913	RAPSN	ORPHA:994
HP:0005918	Abnormal finger phalanx morphology	6572	SLC18A3	ORPHA:994
HP:0005918	Abnormal finger phalanx morphology	285489	DOK7	ORPHA:994
HP:0005918	Abnormal finger phalanx morphology	3914	LAMB3	OMIM:226650
HP:0005918	Abnormal finger phalanx morphology	8092	ALX1	ORPHA:306542
HP:0005918	Abnormal finger phalanx morphology	29895	MYL11	OMIM:619110
HP:0005918	Abnormal finger phalanx morphology	64840	PORCN	ORPHA:2092
HP:0005918	Abnormal finger phalanx morphology	23443	SLC35A3	OMIM:615553
HP:0005918	Abnormal finger phalanx morphology	285590	SH3PXD2B	ORPHA:137834
HP:0005918	Abnormal finger phalanx morphology	25914	RTTN	ORPHA:468631
HP:0005918	Abnormal finger phalanx morphology	9935	MAFB	ORPHA:2774
HP:0005918	Abnormal finger phalanx morphology	28952	CCDC22	OMIM:300963
HP:0005918	Abnormal finger phalanx morphology	8450	CUL4B	ORPHA:85293
HP:0005918	Abnormal finger phalanx morphology	1303	COL12A1	ORPHA:610
HP:0005918	Abnormal finger phalanx morphology	1291	COL6A1	ORPHA:610
HP:0005918	Abnormal finger phalanx morphology	1291	COL6A1	OMIM:158810
HP:0005918	Abnormal finger phalanx morphology	1292	COL6A2	ORPHA:610
HP:0005918	Abnormal finger phalanx morphology	1293	COL6A3	ORPHA:610
HP:0005918	Abnormal finger phalanx morphology	26092	TOR1AIP1	OMIM:617072
HP:0005918	Abnormal finger phalanx morphology	8242	KDM5C	ORPHA:85279
HP:0005918	Abnormal finger phalanx morphology	10269	ZMPSTE24	ORPHA:1662
HP:0005918	Abnormal finger phalanx morphology	23522	KAT6B	ORPHA:3047
HP:0005918	Abnormal finger phalanx morphology	26123	TCTN3	ORPHA:2753
HP:0005918	Abnormal finger phalanx morphology	64131	XYLT1	ORPHA:1425
HP:0005918	Abnormal finger phalanx morphology	55790	CSGALNACT1	ORPHA:1425
HP:0005918	Abnormal finger phalanx morphology	23529	CLCF1	ORPHA:1545
HP:0005918	Abnormal finger phalanx morphology	9244	CRLF1	ORPHA:1545
HP:0005918	Abnormal finger phalanx morphology	79693	YRDC	ORPHA:2065
HP:0005918	Abnormal finger phalanx morphology	51002	TPRKB	ORPHA:2065
HP:0005918	Abnormal finger phalanx morphology	84942	WDR73	ORPHA:2065
HP:0005918	Abnormal finger phalanx morphology	55644	OSGEP	ORPHA:2065
HP:0005918	Abnormal finger phalanx morphology	57122	NUP107	ORPHA:2065
HP:0005918	Abnormal finger phalanx morphology	10785	WDR4	ORPHA:2065
HP:0005918	Abnormal finger phalanx morphology	55746	NUP133	ORPHA:2065
HP:0005918	Abnormal finger phalanx morphology	84520	GON7	ORPHA:2065
HP:0005918	Abnormal finger phalanx morphology	112858	TP53RK	ORPHA:2065
HP:0005918	Abnormal finger phalanx morphology	8270	LAGE3	ORPHA:2065
HP:0005918	Abnormal finger phalanx morphology	5696	PSMB8	OMIM:256040
HP:0005918	Abnormal finger phalanx morphology	56916	SMARCAD1	ORPHA:1658
HP:0005918	Abnormal finger phalanx morphology	55768	NGLY1	ORPHA:404454
HP:0005787	Lumbar platyspondyly	5331	PLCB3	OMIM:618961
HP:0005781	Contractures of the large joints	9373	PLAA	ORPHA:521426
HP:0005781	Contractures of the large joints	9373	PLAA	OMIM:617527
HP:0005781	Contractures of the large joints	8818	DPM2	ORPHA:329178
HP:0005781	Contractures of the large joints	1193	CLIC2	ORPHA:324410
HP:0005781	Contractures of the large joints	5830	PEX5	OMIM:616716
HP:0005780	Absent fourth finger distal interphalangeal crease	11011	TLK2	OMIM:618050
HP:0005780	Absent fourth finger distal interphalangeal crease	5932	RBBP8	OMIM:251255
HP:0005789	Generalized osteosclerosis	50964	SOST	ORPHA:3416
HP:0005789	Generalized osteosclerosis	4041	LRP5	ORPHA:3416
HP:0005789	Generalized osteosclerosis	4041	LRP5	OMIM:607634
HP:0005789	Generalized osteosclerosis	4041	LRP5	ORPHA:2790
HP:0005789	Generalized osteosclerosis	1718	DHCR24	OMIM:602398
HP:0005789	Generalized osteosclerosis	1513	CTSK	ORPHA:763
HP:0005789	Generalized osteosclerosis	1186	CLCN7	ORPHA:53
HP:0005789	Generalized osteosclerosis	1186	CLCN7	ORPHA:210110
HP:0005789	Generalized osteosclerosis	1186	CLCN7	OMIM:166600
HP:0005789	Generalized osteosclerosis	10312	TCIRG1	ORPHA:210110
HP:0005789	Generalized osteosclerosis	9842	PLEKHM1	ORPHA:210110
HP:0005789	Generalized osteosclerosis	5251	PHEX	ORPHA:89936
HP:0005789	Generalized osteosclerosis	5745	PTH1R	OMIM:215045
HP:0002530	Axial dystonia	5521	PPP2R2B	OMIM:604326
HP:0002530	Axial dystonia	25792	CIZ1	ORPHA:420492
HP:0002530	Axial dystonia	2521	FUS	ORPHA:300605
HP:0002530	Axial dystonia	80208	SPG11	ORPHA:300605
HP:0002530	Axial dystonia	10280	SIGMAR1	ORPHA:300605
HP:0002530	Axial dystonia	10558	SPTLC1	ORPHA:300605
HP:0002530	Axial dystonia	57679	ALS2	ORPHA:300605
HP:0002530	Axial dystonia	4137	MAPT	OMIM:601104
HP:0002530	Axial dystonia	4137	MAPT	ORPHA:240071
HP:0002530	Axial dystonia	84842	HPDL	OMIM:619026
HP:0002530	Axial dystonia	5610	EIF2AK2	OMIM:619687
HP:0002530	Axial dystonia	51102	MECR	ORPHA:508093
HP:0002530	Axial dystonia	4722	NDUFS3	OMIM:618230
HP:0002530	Axial dystonia	2774	GNAL	ORPHA:329466
HP:0002530	Axial dystonia	8398	PLA2G6	OMIM:612953
HP:0002530	Axial dystonia	27235	COQ2	ORPHA:227510
HP:0002530	Axial dystonia	27235	COQ2	ORPHA:98933
HP:0002530	Axial dystonia	1293	COL6A3	ORPHA:464440
HP:0001311	Abnormal nervous system electrophysiology	410	ARSA	ORPHA:309271
HP:0001311	Abnormal nervous system electrophysiology	410	ARSA	ORPHA:309256
HP:0001311	Abnormal nervous system electrophysiology	410	ARSA	ORPHA:309263
HP:0001311	Abnormal nervous system electrophysiology	7345	UCHL1	OMIM:615491
HP:0001311	Abnormal nervous system electrophysiology	51102	MECR	ORPHA:508093
HP:0001311	Abnormal nervous system electrophysiology	2395	FXN	OMIM:229300
HP:0001311	Abnormal nervous system electrophysiology	8842	PROM1	ORPHA:827
HP:0001311	Abnormal nervous system electrophysiology	5961	PRPH2	ORPHA:827
HP:0001311	Abnormal nervous system electrophysiology	6785	ELOVL4	ORPHA:827
HP:0001311	Abnormal nervous system electrophysiology	6785	ELOVL4	OMIM:614457
HP:0001311	Abnormal nervous system electrophysiology	24	ABCA4	ORPHA:827
HP:0001311	Abnormal nervous system electrophysiology	54714	CNGB3	ORPHA:827
HP:0001311	Abnormal nervous system electrophysiology	5428	POLG	OMIM:203700
HP:0001311	Abnormal nervous system electrophysiology	84277	DNAJC30	ORPHA:104
HP:0001311	Abnormal nervous system electrophysiology	4536	MT-ND2	ORPHA:104
HP:0001311	Abnormal nervous system electrophysiology	4720	NDUFS2	ORPHA:104
HP:0001311	Abnormal nervous system electrophysiology	4519	MT-CYB	ORPHA:104
HP:0001311	Abnormal nervous system electrophysiology	4508	MT-ATP6	ORPHA:104
HP:0001311	Abnormal nervous system electrophysiology	4539	MT-ND4L	ORPHA:104
HP:0001311	Abnormal nervous system electrophysiology	22930	RAB3GAP1	ORPHA:2510
HP:0001311	Abnormal nervous system electrophysiology	25782	RAB3GAP2	ORPHA:2510
HP:0001311	Abnormal nervous system electrophysiology	22931	RAB18	ORPHA:2510
HP:0001311	Abnormal nervous system electrophysiology	128637	TBC1D20	ORPHA:2510
HP:0001311	Abnormal nervous system electrophysiology	8086	AAAS	OMIM:231550
HP:0001311	Abnormal nervous system electrophysiology	10312	TCIRG1	ORPHA:667
HP:0001311	Abnormal nervous system electrophysiology	1186	CLCN7	ORPHA:667
HP:0001311	Abnormal nervous system electrophysiology	29887	SNX10	ORPHA:667
HP:0001311	Abnormal nervous system electrophysiology	8600	TNFSF11	ORPHA:667
HP:0001311	Abnormal nervous system electrophysiology	7299	TYR	ORPHA:79431
HP:0001311	Abnormal nervous system electrophysiology	9927	MFN2	OMIM:601152
HP:0001311	Abnormal nervous system electrophysiology	8803	SUCLA2	ORPHA:1933
HP:0001311	Abnormal nervous system electrophysiology	3908	LAMA2	ORPHA:258
HP:0001311	Abnormal nervous system electrophysiology	4854	NOTCH3	OMIM:125310
HP:0001311	Abnormal nervous system electrophysiology	79784	MYH14	ORPHA:397744
HP:0001311	Abnormal nervous system electrophysiology	9131	AIFM1	ORPHA:101078
HP:0001311	Abnormal nervous system electrophysiology	7415	VCP	ORPHA:435387
HP:0001311	Abnormal nervous system electrophysiology	7415	VCP	ORPHA:329478
HP:0001311	Abnormal nervous system electrophysiology	9782	MATR3	OMIM:606070
HP:0001311	Abnormal nervous system electrophysiology	9782	MATR3	ORPHA:600
HP:0001311	Abnormal nervous system electrophysiology	7167	TPI1	ORPHA:868
HP:0001311	Abnormal nervous system electrophysiology	10516	FBLN5	OMIM:608895
HP:0001311	Abnormal nervous system electrophysiology	6305	SBF1	OMIM:615284
HP:0001311	Abnormal nervous system electrophysiology	23114	NFASC	OMIM:618356
HP:0001311	Abnormal nervous system electrophysiology	25814	ATXN10	OMIM:603516
HP:0001311	Abnormal nervous system electrophysiology	1785	DNM2	OMIM:615368
HP:0001311	Abnormal nervous system electrophysiology	5165	PDK3	ORPHA:352675
HP:0001311	Abnormal nervous system electrophysiology	9896	FIG4	OMIM:612577
HP:0001311	Abnormal nervous system electrophysiology	9896	FIG4	OMIM:611228
HP:0001311	Abnormal nervous system electrophysiology	1130	LYST	OMIM:214500
HP:0001311	Abnormal nervous system electrophysiology	1130	LYST	ORPHA:167
HP:0001311	Abnormal nervous system electrophysiology	3508	IGHMBP2	OMIM:604320
HP:0001311	Abnormal nervous system electrophysiology	540	ATP7B	OMIM:277900
HP:0001311	Abnormal nervous system electrophysiology	9516	LITAF	OMIM:601098
HP:0001311	Abnormal nervous system electrophysiology	10166	SLC25A15	OMIM:238970
HP:0001311	Abnormal nervous system electrophysiology	87178	PNPT1	ORPHA:319514
HP:0001311	Abnormal nervous system electrophysiology	87178	PNPT1	OMIM:614932
HP:0001311	Abnormal nervous system electrophysiology	219285	SAMD9L	OMIM:159550
HP:0001311	Abnormal nervous system electrophysiology	8560	DEGS1	OMIM:618404
HP:0001311	Abnormal nervous system electrophysiology	3295	HSD17B4	OMIM:261515
HP:0001311	Abnormal nervous system electrophysiology	9639	ARHGEF10	OMIM:608236
HP:0001311	Abnormal nervous system electrophysiology	2200	FBN1	ORPHA:969
HP:0001311	Abnormal nervous system electrophysiology	4054	LTBP3	ORPHA:969
HP:0001311	Abnormal nervous system electrophysiology	54332	GDAP1	ORPHA:101097
HP:0001311	Abnormal nervous system electrophysiology	54332	GDAP1	ORPHA:99948
HP:0001311	Abnormal nervous system electrophysiology	54332	GDAP1	ORPHA:99944
HP:0001311	Abnormal nervous system electrophysiology	65125	WNK1	OMIM:201300
HP:0001311	Abnormal nervous system electrophysiology	54463	RETREG1	OMIM:201300
HP:0001311	Abnormal nervous system electrophysiology	547	KIF1A	OMIM:201300
HP:0001311	Abnormal nervous system electrophysiology	26090	ABHD12	OMIM:612674
HP:0001311	Abnormal nervous system electrophysiology	5376	PMP22	ORPHA:90658
HP:0001311	Abnormal nervous system electrophysiology	4359	MPZ	ORPHA:101082
HP:0001311	Abnormal nervous system electrophysiology	1203	CLN5	OMIM:256731
HP:0001311	Abnormal nervous system electrophysiology	1200	TPP1	OMIM:204500
HP:0001311	Abnormal nervous system electrophysiology	54982	CLN6	OMIM:601780
HP:0001311	Abnormal nervous system electrophysiology	10501	SEMA6B	OMIM:618876
HP:0001311	Abnormal nervous system electrophysiology	378884	NHLRC1	ORPHA:501
HP:0001311	Abnormal nervous system electrophysiology	7957	EPM2A	ORPHA:501
HP:0001311	Abnormal nervous system electrophysiology	401474	SAMD12	OMIM:601068
HP:0001311	Abnormal nervous system electrophysiology	55689	YEATS2	OMIM:615127
HP:0001311	Abnormal nervous system electrophysiology	56910	STARD7	OMIM:607876
HP:0001311	Abnormal nervous system electrophysiology	10299	MARCHF6	OMIM:613608
HP:0001311	Abnormal nervous system electrophysiology	5138	PDE2A	OMIM:619150
HP:0001311	Abnormal nervous system electrophysiology	875	CBS	ORPHA:394
HP:0001311	Abnormal nervous system electrophysiology	2218	FKTN	ORPHA:272
HP:0001311	Abnormal nervous system electrophysiology	2218	FKTN	ORPHA:588
HP:0001311	Abnormal nervous system electrophysiology	9853	RUSC2	OMIM:617773
HP:0001311	Abnormal nervous system electrophysiology	23446	SLC44A1	OMIM:618868
HP:0001311	Abnormal nervous system electrophysiology	3265	HRAS	ORPHA:2612
HP:0001311	Abnormal nervous system electrophysiology	3845	KRAS	ORPHA:2612
HP:0001311	Abnormal nervous system electrophysiology	3845	KRAS	ORPHA:1340
HP:0001311	Abnormal nervous system electrophysiology	4893	NRAS	ORPHA:2612
HP:0001311	Abnormal nervous system electrophysiology	23334	SZT2	OMIM:615476
HP:0001311	Abnormal nervous system electrophysiology	60684	TRAPPC11	OMIM:615356
HP:0001311	Abnormal nervous system electrophysiology	2904	GRIN2B	OMIM:613970
HP:0001311	Abnormal nervous system electrophysiology	55624	POMGNT1	OMIM:253280
HP:0001311	Abnormal nervous system electrophysiology	55624	POMGNT1	ORPHA:588
HP:0001311	Abnormal nervous system electrophysiology	10667	FARS2	OMIM:614946
HP:0001311	Abnormal nervous system electrophysiology	4047	LSS	ORPHA:2850
HP:0001311	Abnormal nervous system electrophysiology	197	AHSG	ORPHA:2850
HP:0001311	Abnormal nervous system electrophysiology	3694	ITGB6	ORPHA:2850
HP:0001311	Abnormal nervous system electrophysiology	51	ACOX1	ORPHA:2971
HP:0001311	Abnormal nervous system electrophysiology	23126	POGZ	ORPHA:468678
HP:0001311	Abnormal nervous system electrophysiology	54209	TREM2	OMIM:618193
HP:0001311	Abnormal nervous system electrophysiology	387119	CEP85L	OMIM:618873
HP:0001311	Abnormal nervous system electrophysiology	51741	WWOX	OMIM:616211
HP:0001311	Abnormal nervous system electrophysiology	51741	WWOX	OMIM:614322
HP:0001311	Abnormal nervous system electrophysiology	1644	DDC	ORPHA:35708
HP:0001311	Abnormal nervous system electrophysiology	2782	GNB1	ORPHA:488613
HP:0001311	Abnormal nervous system electrophysiology	27245	AHDC1	ORPHA:412069
HP:0001311	Abnormal nervous system electrophysiology	166378	AFG2A	OMIM:616577
HP:0001311	Abnormal nervous system electrophysiology	166378	AFG2A	ORPHA:457351
HP:0001311	Abnormal nervous system electrophysiology	7532	YWHAG	OMIM:617665
HP:0001311	Abnormal nervous system electrophysiology	100996717	NOTCH2NLC	ORPHA:2289
HP:0001311	Abnormal nervous system electrophysiology	25914	RTTN	OMIM:614833
HP:0001311	Abnormal nervous system electrophysiology	2314	FLII	ORPHA:819
HP:0001311	Abnormal nervous system electrophysiology	23096	IQSEC2	ORPHA:819
HP:0001311	Abnormal nervous system electrophysiology	10743	RAI1	ORPHA:819
HP:0001311	Abnormal nervous system electrophysiology	10743	RAI1	ORPHA:1713
HP:0001311	Abnormal nervous system electrophysiology	10743	RAI1	OMIM:182290
HP:0001311	Abnormal nervous system electrophysiology	10522	DEAF1	ORPHA:819
HP:0001311	Abnormal nervous system electrophysiology	10522	DEAF1	OMIM:617171
HP:0001311	Abnormal nervous system electrophysiology	5818	NECTIN1	ORPHA:3253
HP:0001311	Abnormal nervous system electrophysiology	4758	NEU1	ORPHA:812
HP:0001311	Abnormal nervous system electrophysiology	55768	NGLY1	ORPHA:404454
HP:0001311	Abnormal nervous system electrophysiology	284403	WDR62	OMIM:604317
HP:0001311	Abnormal nervous system electrophysiology	1185	CLCN6	OMIM:619173
HP:0001311	Abnormal nervous system electrophysiology	6023	RMRP	ORPHA:175
HP:0001311	Abnormal nervous system electrophysiology	284058	KANSL1	ORPHA:363958
HP:0001311	Abnormal nervous system electrophysiology	284058	KANSL1	ORPHA:363965
HP:0001311	Abnormal nervous system electrophysiology	5105	PCK1	OMIM:261680
HP:0001311	Abnormal nervous system electrophysiology	6844	VAMP2	OMIM:618760
HP:0001311	Abnormal nervous system electrophysiology	815	CAMK2A	OMIM:617798
HP:0001311	Abnormal nervous system electrophysiology	9326	ZNHIT3	ORPHA:2836
HP:0001311	Abnormal nervous system electrophysiology	2055	CLN8	OMIM:610003
HP:0001311	Abnormal nervous system electrophysiology	2055	CLN8	OMIM:600143
HP:0001311	Abnormal nervous system electrophysiology	10939	AFG3L2	ORPHA:313772
HP:0001311	Abnormal nervous system electrophysiology	9839	ZEB2	ORPHA:261552
HP:0001311	Abnormal nervous system electrophysiology	9839	ZEB2	ORPHA:261537
HP:0001311	Abnormal nervous system electrophysiology	51651	PTRH2	ORPHA:456312
HP:0001311	Abnormal nervous system electrophysiology	1759	DNM1	ORPHA:2382
HP:0001311	Abnormal nervous system electrophysiology	2562	GABRB3	ORPHA:2382
HP:0001311	Abnormal nervous system electrophysiology	5602	MAPK10	ORPHA:2382
HP:0001311	Abnormal nervous system electrophysiology	773	CACNA1A	ORPHA:2382
HP:0001311	Abnormal nervous system electrophysiology	773	CACNA1A	ORPHA:2131
HP:0001311	Abnormal nervous system electrophysiology	773	CACNA1A	OMIM:617106
HP:0001311	Abnormal nervous system electrophysiology	773	CACNA1A	ORPHA:569
HP:0001311	Abnormal nervous system electrophysiology	6323	SCN1A	ORPHA:2382
HP:0001311	Abnormal nervous system electrophysiology	6323	SCN1A	ORPHA:569
HP:0001311	Abnormal nervous system electrophysiology	23316	CUX2	ORPHA:2382
HP:0001311	Abnormal nervous system electrophysiology	23316	CUX2	OMIM:618141
HP:0001311	Abnormal nervous system electrophysiology	1106	CHD2	ORPHA:2382
HP:0001311	Abnormal nervous system electrophysiology	23461	ABCA5	ORPHA:2026
HP:0001311	Abnormal nervous system electrophysiology	2783	GNB2	OMIM:619503
HP:0001311	Abnormal nervous system electrophysiology	26057	ANKRD17	OMIM:619504
HP:0001311	Abnormal nervous system electrophysiology	7468	NSD2	OMIM:194190
HP:0001311	Abnormal nervous system electrophysiology	10815	CPLX1	OMIM:194190
HP:0001311	Abnormal nervous system electrophysiology	1487	CTBP1	OMIM:194190
HP:0001311	Abnormal nervous system electrophysiology	53834	FGFRL1	OMIM:194190
HP:0001311	Abnormal nervous system electrophysiology	3954	LETM1	OMIM:194190
HP:0001311	Abnormal nervous system electrophysiology	383	ARG1	ORPHA:90
HP:0001311	Abnormal nervous system electrophysiology	7915	ALDH5A1	OMIM:271980
HP:0001311	Abnormal nervous system electrophysiology	4204	MECP2	OMIM:300673
HP:0001311	Abnormal nervous system electrophysiology	4204	MECP2	OMIM:312750
HP:0001311	Abnormal nervous system electrophysiology	4204	MECP2	ORPHA:3095
HP:0001311	Abnormal nervous system electrophysiology	4204	MECP2	ORPHA:778
HP:0001311	Abnormal nervous system electrophysiology	4204	MECP2	OMIM:300496
HP:0001311	Abnormal nervous system electrophysiology	9255	AIMP1	OMIM:260600
HP:0001311	Abnormal nervous system electrophysiology	79753	SNIP1	OMIM:614501
HP:0001311	Abnormal nervous system electrophysiology	6507	SLC1A3	ORPHA:2131
HP:0001311	Abnormal nervous system electrophysiology	477	ATP1A2	ORPHA:2131
HP:0001311	Abnormal nervous system electrophysiology	477	ATP1A2	ORPHA:569
HP:0001311	Abnormal nervous system electrophysiology	478	ATP1A3	ORPHA:2131
HP:0001311	Abnormal nervous system electrophysiology	5590	PRKCZ	ORPHA:1606
HP:0001311	Abnormal nervous system electrophysiology	2563	GABRD	ORPHA:1606
HP:0001311	Abnormal nervous system electrophysiology	23013	SPEN	ORPHA:1606
HP:0001311	Abnormal nervous system electrophysiology	8510	MMP23B	ORPHA:1606
HP:0001311	Abnormal nervous system electrophysiology	7798	LUZP1	ORPHA:1606
HP:0001311	Abnormal nervous system electrophysiology	6497	SKI	ORPHA:1606
HP:0001311	Abnormal nervous system electrophysiology	10630	PDPN	ORPHA:1606
HP:0001311	Abnormal nervous system electrophysiology	3339	HSPG2	ORPHA:1606
HP:0001311	Abnormal nervous system electrophysiology	10277	UBE4B	ORPHA:1606
HP:0001311	Abnormal nervous system electrophysiology	8514	KCNAB2	ORPHA:1606
HP:0001311	Abnormal nervous system electrophysiology	473	RERE	ORPHA:1606
HP:0001311	Abnormal nervous system electrophysiology	63976	PRDM16	ORPHA:1606
HP:0001311	Abnormal nervous system electrophysiology	54897	CASZ1	ORPHA:1606
HP:0001311	Abnormal nervous system electrophysiology	7337	UBE3A	OMIM:105830
HP:0001311	Abnormal nervous system electrophysiology	7337	UBE3A	ORPHA:98794
HP:0001311	Abnormal nervous system electrophysiology	7337	UBE3A	ORPHA:98795
HP:0001311	Abnormal nervous system electrophysiology	7337	UBE3A	ORPHA:411511
HP:0001311	Abnormal nervous system electrophysiology	7337	UBE3A	ORPHA:411515
HP:0001311	Abnormal nervous system electrophysiology	6638	SNRPN	OMIM:105830
HP:0001311	Abnormal nervous system electrophysiology	6638	SNRPN	OMIM:209850
HP:0001311	Abnormal nervous system electrophysiology	6638	SNRPN	ORPHA:411515
HP:0001311	Abnormal nervous system electrophysiology	148789	B3GALNT2	ORPHA:588
HP:0001311	Abnormal nervous system electrophysiology	29925	GMPPB	ORPHA:588
HP:0001311	Abnormal nervous system electrophysiology	79147	FKRP	ORPHA:588
HP:0001311	Abnormal nervous system electrophysiology	9215	LARGE1	ORPHA:588
HP:0001311	Abnormal nervous system electrophysiology	29954	POMT2	ORPHA:588
HP:0001311	Abnormal nervous system electrophysiology	729920	CRPPA	ORPHA:588
HP:0001311	Abnormal nervous system electrophysiology	10585	POMT1	ORPHA:588
HP:0001311	Abnormal nervous system electrophysiology	8905	AP1S2	ORPHA:85329
HP:0001311	Abnormal nervous system electrophysiology	4094	MAF	ORPHA:1272
HP:0001311	Abnormal nervous system electrophysiology	8733	GPAA1	ORPHA:529665
HP:0001311	Abnormal nervous system electrophysiology	8733	GPAA1	OMIM:617810
HP:0001311	Abnormal nervous system electrophysiology	5621	PRNP	ORPHA:157941
HP:0001311	Abnormal nervous system electrophysiology	27086	FOXP1	ORPHA:391372
HP:0001311	Abnormal nervous system electrophysiology	2232	FDXR	ORPHA:543470
HP:0001311	Abnormal nervous system electrophysiology	56947	MFF	ORPHA:485421
HP:0001311	Abnormal nervous system electrophysiology	6506	SLC1A2	OMIM:617105
HP:0001311	Abnormal nervous system electrophysiology	200424	TET3	OMIM:618798
HP:0001311	Abnormal nervous system electrophysiology	29110	TBK1	OMIM:617900
HP:0001311	Abnormal nervous system electrophysiology	29110	TBK1	ORPHA:1930
HP:0001311	Abnormal nervous system electrophysiology	256471	MFSD8	OMIM:610951
HP:0001311	Abnormal nervous system electrophysiology	57192	MCOLN1	ORPHA:578
HP:0001311	Abnormal nervous system electrophysiology	23065	EMC1	ORPHA:480898
HP:0001311	Abnormal nervous system electrophysiology	8813	DPM1	OMIM:608799
HP:0001311	Abnormal nervous system electrophysiology	55670	PEX26	ORPHA:44
HP:0001311	Abnormal nervous system electrophysiology	55670	PEX26	ORPHA:912
HP:0001311	Abnormal nervous system electrophysiology	5824	PEX19	ORPHA:44
HP:0001311	Abnormal nervous system electrophysiology	5824	PEX19	ORPHA:912
HP:0001311	Abnormal nervous system electrophysiology	5828	PEX2	ORPHA:44
HP:0001311	Abnormal nervous system electrophysiology	5828	PEX2	ORPHA:912
HP:0001311	Abnormal nervous system electrophysiology	8504	PEX3	ORPHA:44
HP:0001311	Abnormal nervous system electrophysiology	8504	PEX3	ORPHA:912
HP:0001311	Abnormal nervous system electrophysiology	9409	PEX16	ORPHA:44
HP:0001311	Abnormal nervous system electrophysiology	9409	PEX16	ORPHA:912
HP:0001311	Abnormal nervous system electrophysiology	5190	PEX6	ORPHA:44
HP:0001311	Abnormal nervous system electrophysiology	5190	PEX6	ORPHA:912
HP:0001311	Abnormal nervous system electrophysiology	8799	PEX11B	ORPHA:44
HP:0001311	Abnormal nervous system electrophysiology	8799	PEX11B	ORPHA:912
HP:0001311	Abnormal nervous system electrophysiology	8799	PEX11B	OMIM:614920
HP:0001311	Abnormal nervous system electrophysiology	5830	PEX5	ORPHA:44
HP:0001311	Abnormal nervous system electrophysiology	5830	PEX5	ORPHA:912
HP:0001311	Abnormal nervous system electrophysiology	5189	PEX1	ORPHA:44
HP:0001311	Abnormal nervous system electrophysiology	5189	PEX1	ORPHA:912
HP:0001311	Abnormal nervous system electrophysiology	5193	PEX12	ORPHA:44
HP:0001311	Abnormal nervous system electrophysiology	5193	PEX12	ORPHA:912
HP:0001311	Abnormal nervous system electrophysiology	5194	PEX13	ORPHA:44
HP:0001311	Abnormal nervous system electrophysiology	5194	PEX13	ORPHA:912
HP:0001311	Abnormal nervous system electrophysiology	5195	PEX14	ORPHA:44
HP:0001311	Abnormal nervous system electrophysiology	5195	PEX14	ORPHA:912
HP:0001311	Abnormal nervous system electrophysiology	5192	PEX10	ORPHA:44
HP:0001311	Abnormal nervous system electrophysiology	5192	PEX10	ORPHA:912
HP:0001311	Abnormal nervous system electrophysiology	23007	PLCH1	OMIM:619895
HP:0001311	Abnormal nervous system electrophysiology	26047	CNTNAP2	OMIM:610042
HP:0001311	Abnormal nervous system electrophysiology	340024	SLC6A19	ORPHA:2116
HP:0001311	Abnormal nervous system electrophysiology	57393	CLTRN	ORPHA:2116
HP:0001311	Abnormal nervous system electrophysiology	84168	ANTXR1	OMIM:230740
HP:0001311	Abnormal nervous system electrophysiology	284111	SLC13A5	ORPHA:1946
HP:0001311	Abnormal nervous system electrophysiology	79641	ROGDI	ORPHA:1946
HP:0001311	Abnormal nervous system electrophysiology	54413	NLGN3	OMIM:300425
HP:0001311	Abnormal nervous system electrophysiology	57505	AARS2	OMIM:614096
HP:0001311	Abnormal nervous system electrophysiology	3658	IREB2	OMIM:618451
HP:0001311	Abnormal nervous system electrophysiology	2581	GALC	OMIM:245200
HP:0001311	Abnormal nervous system electrophysiology	2581	GALC	ORPHA:206448
HP:0001311	Abnormal nervous system electrophysiology	9990	SLC12A6	ORPHA:1496
HP:0001311	Abnormal nervous system electrophysiology	58497	PRUNE1	ORPHA:544469
HP:0001311	Abnormal nervous system electrophysiology	57724	EPG5	ORPHA:1493
HP:0001311	Abnormal nervous system electrophysiology	6857	SYT1	OMIM:618218
HP:0001311	Abnormal nervous system electrophysiology	6857	SYT1	ORPHA:522077
HP:0001311	Abnormal nervous system electrophysiology	92609	TIMM50	ORPHA:505216
HP:0001311	Abnormal nervous system electrophysiology	6792	CDKL5	ORPHA:1934
HP:0001311	Abnormal nervous system electrophysiology	6792	CDKL5	ORPHA:3095
HP:0001311	Abnormal nervous system electrophysiology	3736	KCNA1	ORPHA:1934
HP:0001311	Abnormal nervous system electrophysiology	9091	PIGQ	ORPHA:1934
HP:0001311	Abnormal nervous system electrophysiology	140679	SLC32A1	ORPHA:1934
HP:0001311	Abnormal nervous system electrophysiology	2775	GNAO1	ORPHA:1934
HP:0001311	Abnormal nervous system electrophysiology	81603	TRIM8	ORPHA:1934
HP:0001311	Abnormal nervous system electrophysiology	2902	GRIN1	ORPHA:1934
HP:0001311	Abnormal nervous system electrophysiology	2902	GRIN1	OMIM:617820
HP:0001311	Abnormal nervous system electrophysiology	2902	GRIN1	OMIM:614254
HP:0001311	Abnormal nervous system electrophysiology	79751	SLC25A22	ORPHA:1934
HP:0001311	Abnormal nervous system electrophysiology	150094	SIK1	ORPHA:1934
HP:0001311	Abnormal nervous system electrophysiology	8573	CASK	ORPHA:1934
HP:0001311	Abnormal nervous system electrophysiology	23312	DMXL2	ORPHA:1934
HP:0001311	Abnormal nervous system electrophysiology	2917	GRM7	ORPHA:1934
HP:0001311	Abnormal nervous system electrophysiology	170302	ARX	ORPHA:1934
HP:0001311	Abnormal nervous system electrophysiology	170302	ARX	ORPHA:94083
HP:0001311	Abnormal nervous system electrophysiology	170302	ARX	OMIM:309510
HP:0001311	Abnormal nervous system electrophysiology	11284	PNKP	ORPHA:1934
HP:0001311	Abnormal nervous system electrophysiology	6326	SCN2A	ORPHA:1934
HP:0001311	Abnormal nervous system electrophysiology	51227	PIGP	ORPHA:1934
HP:0001311	Abnormal nervous system electrophysiology	6324	SCN1B	ORPHA:1934
HP:0001311	Abnormal nervous system electrophysiology	4761	NEUROD2	ORPHA:1934
HP:0001311	Abnormal nervous system electrophysiology	5813	PURA	ORPHA:314655
HP:0001311	Abnormal nervous system electrophysiology	2068	ERCC2	ORPHA:910
HP:0001311	Abnormal nervous system electrophysiology	7507	XPA	ORPHA:910
HP:0001311	Abnormal nervous system electrophysiology	2071	ERCC3	ORPHA:910
HP:0001311	Abnormal nervous system electrophysiology	7508	XPC	ORPHA:910
HP:0001311	Abnormal nervous system electrophysiology	1643	DDB2	ORPHA:910
HP:0001311	Abnormal nervous system electrophysiology	2073	ERCC5	ORPHA:910
HP:0001311	Abnormal nervous system electrophysiology	7187	TRAF3	ORPHA:1930
HP:0001311	Abnormal nervous system electrophysiology	81622	UNC93B1	ORPHA:1930
HP:0001311	Abnormal nervous system electrophysiology	148022	TICAM1	ORPHA:1930
HP:0001311	Abnormal nervous system electrophysiology	7098	TLR3	ORPHA:1930
HP:0001311	Abnormal nervous system electrophysiology	7098	TLR3	OMIM:613002
HP:0001311	Abnormal nervous system electrophysiology	6513	SLC2A1	ORPHA:71277
HP:0001311	Abnormal nervous system electrophysiology	6513	SLC2A1	OMIM:612126
HP:0001311	Abnormal nervous system electrophysiology	6513	SLC2A1	OMIM:606777
HP:0001311	Abnormal nervous system electrophysiology	435	ASL	ORPHA:23
HP:0001311	Abnormal nervous system electrophysiology	3155	HMGCL	ORPHA:20
HP:0001311	Abnormal nervous system electrophysiology	3155	HMGCL	OMIM:246450
HP:0001311	Abnormal nervous system electrophysiology	4558	MT-TF	ORPHA:550
HP:0001311	Abnormal nervous system electrophysiology	4572	MT-TQ	ORPHA:550
HP:0001311	Abnormal nervous system electrophysiology	4512	MT-CO1	ORPHA:550
HP:0001311	Abnormal nervous system electrophysiology	4513	MT-CO2	ORPHA:550
HP:0001311	Abnormal nervous system electrophysiology	4514	MT-CO3	ORPHA:550
HP:0001311	Abnormal nervous system electrophysiology	4578	MT-TW	ORPHA:550
HP:0001311	Abnormal nervous system electrophysiology	4540	MT-ND5	ORPHA:550
HP:0001311	Abnormal nervous system electrophysiology	4541	MT-ND6	ORPHA:550
HP:0001311	Abnormal nervous system electrophysiology	4535	MT-ND1	ORPHA:550
HP:0001311	Abnormal nervous system electrophysiology	4538	MT-ND4	ORPHA:550
HP:0001311	Abnormal nervous system electrophysiology	4567	MT-TL1	ORPHA:550
HP:0001311	Abnormal nervous system electrophysiology	4574	MT-TS1	ORPHA:550
HP:0001311	Abnormal nervous system electrophysiology	4575	MT-TS2	ORPHA:550
HP:0001311	Abnormal nervous system electrophysiology	4564	MT-TH	ORPHA:550
HP:0001311	Abnormal nervous system electrophysiology	8243	SMC1A	OMIM:301044
HP:0001311	Abnormal nervous system electrophysiology	8243	SMC1A	ORPHA:3095
HP:0001311	Abnormal nervous system electrophysiology	10785	WDR4	OMIM:618346
HP:0001311	Abnormal nervous system electrophysiology	10785	WDR4	ORPHA:2065
HP:0001311	Abnormal nervous system electrophysiology	2290	FOXG1	OMIM:613454
HP:0001311	Abnormal nervous system electrophysiology	29123	ANKRD11	ORPHA:2332
HP:0001311	Abnormal nervous system electrophysiology	83548	COG3	OMIM:620546
HP:0001311	Abnormal nervous system electrophysiology	11267	SNF8	OMIM:620784
HP:0001311	Abnormal nervous system electrophysiology	11267	SNF8	OMIM:620783
HP:0001311	Abnormal nervous system electrophysiology	22854	NTNG1	ORPHA:3095
HP:0001311	Abnormal nervous system electrophysiology	9568	GABBR2	ORPHA:3095
HP:0001311	Abnormal nervous system electrophysiology	1387	CREBBP	ORPHA:353281
HP:0001311	Abnormal nervous system electrophysiology	1387	CREBBP	OMIM:180849
HP:0001311	Abnormal nervous system electrophysiology	1387	CREBBP	ORPHA:353277
HP:0001311	Abnormal nervous system electrophysiology	23395	LARS2	OMIM:617021
HP:0001311	Abnormal nervous system electrophysiology	57520	HECW2	OMIM:617268
HP:0001311	Abnormal nervous system electrophysiology	8085	KMT2D	ORPHA:2322
HP:0001311	Abnormal nervous system electrophysiology	7403	KDM6A	ORPHA:2322
HP:0001311	Abnormal nervous system electrophysiology	2033	EP300	ORPHA:353284
HP:0001311	Abnormal nervous system electrophysiology	2033	EP300	OMIM:180849
HP:0001311	Abnormal nervous system electrophysiology	2561	GABRB2	OMIM:617829
HP:0001311	Abnormal nervous system electrophysiology	23780	APOL2	OMIM:181500
HP:0001311	Abnormal nervous system electrophysiology	267012	DAOA	OMIM:181500
HP:0001311	Abnormal nervous system electrophysiology	3356	HTR2A	OMIM:181500
HP:0001311	Abnormal nervous system electrophysiology	6854	SYN2	OMIM:181500
HP:0001311	Abnormal nervous system electrophysiology	1814	DRD3	OMIM:181500
HP:0001311	Abnormal nervous system electrophysiology	1312	COMT	OMIM:181500
HP:0001311	Abnormal nervous system electrophysiology	4524	MTHFR	OMIM:181500
HP:0001311	Abnormal nervous system electrophysiology	27184	DISC2	OMIM:181500
HP:0001311	Abnormal nervous system electrophysiology	65078	RTN4R	OMIM:181500
HP:0001311	Abnormal nervous system electrophysiology	80832	APOL4	OMIM:181500
HP:0001311	Abnormal nervous system electrophysiology	1116	CHI3L1	OMIM:181500
HP:0001311	Abnormal nervous system electrophysiology	4952	OCRL	ORPHA:534
HP:0001311	Abnormal nervous system electrophysiology	2067	ERCC1	OMIM:610758
HP:0001311	Abnormal nervous system electrophysiology	4948	OCA2	ORPHA:98794
HP:0001311	Abnormal nervous system electrophysiology	1725	DHPS	OMIM:618480
HP:0001311	Abnormal nervous system electrophysiology	3192	HNRNPU	OMIM:617391
HP:0001311	Abnormal nervous system electrophysiology	84340	GFM2	ORPHA:565624
HP:0001311	Abnormal nervous system electrophysiology	4704	NDUFA9	OMIM:618247
HP:0001311	Abnormal nervous system electrophysiology	116150	NUS1	OMIM:617831
HP:0001311	Abnormal nervous system electrophysiology	23511	NUP188	OMIM:618804
HP:0001311	Abnormal nervous system electrophysiology	79947	DHDDS	OMIM:617836
HP:0001311	Abnormal nervous system electrophysiology	201163	FLCN	OMIM:610883
HP:0001311	Abnormal nervous system electrophysiology	5604	MAP2K1	ORPHA:1340
HP:0001311	Abnormal nervous system electrophysiology	5605	MAP2K2	ORPHA:1340
HP:0001311	Abnormal nervous system electrophysiology	673	BRAF	ORPHA:1340
HP:0001311	Abnormal nervous system electrophysiology	23389	MED13L	ORPHA:369891
HP:0001311	Abnormal nervous system electrophysiology	112476	PRRT2	ORPHA:569
HP:0001311	Abnormal nervous system electrophysiology	23258	DENND5A	OMIM:617281
HP:0001311	Abnormal nervous system electrophysiology	2257	FGF12	OMIM:617166
HP:0001311	Abnormal nervous system electrophysiology	114548	NLRP3	ORPHA:1451
HP:0001311	Abnormal nervous system electrophysiology	6304	SATB1	OMIM:619228
HP:0001311	Abnormal nervous system electrophysiology	6304	SATB1	OMIM:619229
HP:0001311	Abnormal nervous system electrophysiology	6611	SMS	ORPHA:3063
HP:0001311	Abnormal nervous system electrophysiology	8943	AP3D1	OMIM:617050
HP:0001311	Abnormal nervous system electrophysiology	51241	COX16	OMIM:619355
HP:0001311	Abnormal nervous system electrophysiology	57003	CCDC47	OMIM:618268
HP:0001311	Abnormal nervous system electrophysiology	6711	SPTBN1	OMIM:619475
HP:0001311	Abnormal nervous system electrophysiology	23040	MYT1L	OMIM:616521
HP:0001311	Abnormal nervous system electrophysiology	259232	NALCN	ORPHA:371364
HP:0001311	Abnormal nervous system electrophysiology	285175	UNC80	ORPHA:371364
HP:0001311	Abnormal nervous system electrophysiology	526	ATP6V1B2	ORPHA:79500
HP:0001311	Abnormal nervous system electrophysiology	57465	TBC1D24	ORPHA:79500
HP:0001311	Abnormal nervous system electrophysiology	7343	UBTF	ORPHA:500180
HP:0001311	Abnormal nervous system electrophysiology	151	ADRA2B	ORPHA:86814
HP:0001311	Abnormal nervous system electrophysiology	1501	CTNND2	ORPHA:86814
HP:0001311	Abnormal nervous system electrophysiology	6900	CNTN2	ORPHA:86814
HP:0001311	Abnormal nervous system electrophysiology	8567	MADD	OMIM:619004
HP:0001311	Abnormal nervous system electrophysiology	8567	MADD	OMIM:619005
HP:0001311	Abnormal nervous system electrophysiology	10319	LAMC3	OMIM:614115
HP:0001311	Abnormal nervous system electrophysiology	1806	DPYD	ORPHA:1675
HP:0001311	Abnormal nervous system electrophysiology	8450	CUL4B	ORPHA:85293
HP:0001311	Abnormal nervous system electrophysiology	5625	PRODH	OMIM:239500
HP:0001311	Abnormal nervous system electrophysiology	3516	RBPJ	ORPHA:974
HP:0001311	Abnormal nervous system electrophysiology	4851	NOTCH1	ORPHA:974
HP:0001311	Abnormal nervous system electrophysiology	57514	ARHGAP31	ORPHA:974
HP:0001311	Abnormal nervous system electrophysiology	57572	DOCK6	ORPHA:974
HP:0001311	Abnormal nervous system electrophysiology	285203	EOGT	ORPHA:974
HP:0001311	Abnormal nervous system electrophysiology	54567	DLL4	ORPHA:974
HP:0001311	Abnormal nervous system electrophysiology	617	BCS1L	OMIM:124000
HP:0001311	Abnormal nervous system electrophysiology	84628	NTNG2	OMIM:618718
HP:0001311	Abnormal nervous system electrophysiology	3756	KCNH1	ORPHA:420561
HP:0001311	Abnormal nervous system electrophysiology	3090	HIC1	ORPHA:531
HP:0001311	Abnormal nervous system electrophysiology	5048	PAFAH1B1	ORPHA:531
HP:0001311	Abnormal nervous system electrophysiology	7531	YWHAE	ORPHA:531
HP:0001311	Abnormal nervous system electrophysiology	57502	NLGN4X	OMIM:300495
HP:0001311	Abnormal nervous system electrophysiology	84295	PHF6	OMIM:301900
HP:0001311	Abnormal nervous system electrophysiology	54802	TRIT1	OMIM:617873
HP:0001311	Abnormal nervous system electrophysiology	10479	SLC9A6	ORPHA:85278
HP:0001311	Abnormal nervous system electrophysiology	777	CACNA1E	OMIM:618285
HP:0001311	Abnormal nervous system electrophysiology	5538	PPT1	OMIM:256730
HP:0001311	Abnormal nervous system electrophysiology	8831	SYNGAP1	OMIM:612621
HP:0001311	Abnormal nervous system electrophysiology	1968	EIF2S3	ORPHA:85282
HP:0001311	Abnormal nervous system electrophysiology	9439	MED23	OMIM:614249
HP:0001311	Abnormal nervous system electrophysiology	57731	SPTBN4	OMIM:617519
HP:0001311	Abnormal nervous system electrophysiology	4693	NDP	ORPHA:649
HP:0001311	Abnormal nervous system electrophysiology	1496	CTNNA2	OMIM:618174
HP:0001311	Abnormal nervous system electrophysiology	7305	TYROBP	OMIM:221770
HP:0001311	Abnormal nervous system electrophysiology	3778	KCNMA1	OMIM:617643
HP:0001311	Abnormal nervous system electrophysiology	79693	YRDC	ORPHA:2065
HP:0001311	Abnormal nervous system electrophysiology	51002	TPRKB	ORPHA:2065
HP:0001311	Abnormal nervous system electrophysiology	84942	WDR73	ORPHA:2065
HP:0001311	Abnormal nervous system electrophysiology	55644	OSGEP	ORPHA:2065
HP:0001311	Abnormal nervous system electrophysiology	57122	NUP107	ORPHA:2065
HP:0001311	Abnormal nervous system electrophysiology	55746	NUP133	ORPHA:2065
HP:0001311	Abnormal nervous system electrophysiology	84520	GON7	ORPHA:2065
HP:0001311	Abnormal nervous system electrophysiology	112858	TP53RK	ORPHA:2065
HP:0001311	Abnormal nervous system electrophysiology	8270	LAGE3	ORPHA:2065
HP:0001311	Abnormal nervous system electrophysiology	57194	ATP10A	ORPHA:411515
HP:0001311	Abnormal nervous system electrophysiology	3785	KCNQ2	ORPHA:306
HP:0001311	Abnormal nervous system electrophysiology	3786	KCNQ3	ORPHA:306
HP:0001311	Abnormal nervous system electrophysiology	4649	MYO9A	ORPHA:98914
HP:0001311	Abnormal nervous system electrophysiology	1305	COL13A1	ORPHA:98914
HP:0001311	Abnormal nervous system electrophysiology	1103	CHAT	ORPHA:98914
HP:0001311	Abnormal nervous system electrophysiology	6576	SLC25A1	ORPHA:98914
HP:0001311	Abnormal nervous system electrophysiology	375790	AGRN	ORPHA:98914
HP:0001311	Abnormal nervous system electrophysiology	6572	SLC18A3	ORPHA:98914
HP:0001311	Abnormal nervous system electrophysiology	6616	SNAP25	ORPHA:98914
HP:0001311	Abnormal nervous system electrophysiology	1181	CLCN2	ORPHA:307
HP:0001311	Abnormal nervous system electrophysiology	22858	CILK1	ORPHA:307
HP:0001311	Abnormal nervous system electrophysiology	8629	JRK	ORPHA:307
HP:0001311	Abnormal nervous system electrophysiology	144165	PRICKLE1	ORPHA:308
HP:0001311	Abnormal nervous system electrophysiology	950	SCARB2	ORPHA:308
HP:0001311	Abnormal nervous system electrophysiology	199857	ALG14	OMIM:619036
HP:0001311	Abnormal nervous system electrophysiology	343450	KCNT2	OMIM:617771
HP:0001311	Abnormal nervous system electrophysiology	10564	ARFGEF2	OMIM:608097
HP:0001311	Abnormal nervous system electrophysiology	2653	GCSH	OMIM:620423
HP:0001311	Abnormal nervous system electrophysiology	4076	CAPRIN1	OMIM:620782
HP:0001311	Abnormal nervous system electrophysiology	8496	PPFIBP1	OMIM:620024
HP:0001311	Abnormal nervous system electrophysiology	2258	FGF13	OMIM:301058
HP:0001311	Abnormal nervous system electrophysiology	51112	TRAPPC12	ORPHA:500144
HP:0001311	Abnormal nervous system electrophysiology	51112	TRAPPC12	OMIM:617669
HP:0001311	Abnormal nervous system electrophysiology	26275	HIBCH	ORPHA:88639
HP:0001311	Abnormal nervous system electrophysiology	64801	ARV1	OMIM:617020
HP:0001311	Abnormal nervous system electrophysiology	79868	ALG13	OMIM:300884
HP:0001311	Abnormal nervous system electrophysiology	79868	ALG13	ORPHA:324422
HP:0001311	Abnormal nervous system electrophysiology	51506	UFC1	OMIM:618076
HP:0001311	Abnormal nervous system electrophysiology	6487	ST3GAL3	OMIM:615006
HP:0001311	Abnormal nervous system electrophysiology	6487	ST3GAL3	ORPHA:3451
HP:0001311	Abnormal nervous system electrophysiology	112939	NACC1	ORPHA:500545
HP:0001311	Abnormal nervous system electrophysiology	157922	CAMSAP1	OMIM:620316
HP:0001311	Abnormal nervous system electrophysiology	55780	ERMARD	ORPHA:75857
HP:0001311	Abnormal nervous system electrophysiology	55780	ERMARD	OMIM:615544
HP:0001311	Abnormal nervous system electrophysiology	3767	KCNJ11	ORPHA:79134
HP:0001311	Abnormal nervous system electrophysiology	3767	KCNJ11	OMIM:618856
HP:0001311	Abnormal nervous system electrophysiology	79731	NARS2	ORPHA:79134
HP:0001311	Abnormal nervous system electrophysiology	161725	OTUD7A	OMIM:620790
HP:0001311	Abnormal nervous system electrophysiology	4763	NF1	OMIM:162200
HP:0001311	Abnormal nervous system electrophysiology	2560	GABRB1	OMIM:617153
HP:0001311	Abnormal nervous system electrophysiology	535	ATP6V0A1	OMIM:619970
HP:0001311	Abnormal nervous system electrophysiology	7965	AIMP2	OMIM:618006
HP:0001311	Abnormal nervous system electrophysiology	3054	HCFC1	OMIM:309541
HP:0001311	Abnormal nervous system electrophysiology	5805	PTS	ORPHA:13
HP:0001311	Abnormal nervous system electrophysiology	1327	COX4I1	OMIM:619060
HP:0001311	Abnormal nervous system electrophysiology	25930	PTPN23	OMIM:618890
HP:0001311	Abnormal nervous system electrophysiology	23327	NEDD4L	OMIM:617201
HP:0001311	Abnormal nervous system electrophysiology	1822	ATN1	OMIM:618494
HP:0001311	Abnormal nervous system electrophysiology	132158	GLYCTK	OMIM:220120
HP:0001311	Abnormal nervous system electrophysiology	84896	ATAD1	OMIM:618011
HP:0001311	Abnormal nervous system electrophysiology	1641	DCX	ORPHA:2148
HP:0001311	Abnormal nervous system electrophysiology	284184	NDUFAF8	OMIM:618776
HP:0001311	Abnormal nervous system electrophysiology	55361	PI4K2A	OMIM:620732
HP:0001311	Abnormal nervous system electrophysiology	26040	SETBP1	OMIM:269150
HP:0001311	Abnormal nervous system electrophysiology	26040	SETBP1	ORPHA:798
HP:0001311	Abnormal nervous system electrophysiology	149371	EXOC8	OMIM:619076
HP:0001311	Abnormal nervous system electrophysiology	55699	IARS2	OMIM:616007
HP:0001311	Abnormal nervous system electrophysiology	8452	CUL3	OMIM:619239
HP:0001311	Abnormal nervous system electrophysiology	116115	ZNF526	OMIM:619877
HP:0001311	Abnormal nervous system electrophysiology	538	ATP7A	OMIM:309400
HP:0001311	Abnormal nervous system electrophysiology	85365	ALG2	ORPHA:79326
HP:0001311	Abnormal nervous system electrophysiology	85365	ALG2	OMIM:607906
HP:0001311	Abnormal nervous system electrophysiology	4247	MGAT2	ORPHA:79329
HP:0001311	Abnormal nervous system electrophysiology	728294	D2HGDH	OMIM:600721
HP:0001311	Abnormal nervous system electrophysiology	2571	GAD1	OMIM:619124
HP:0001311	Abnormal nervous system electrophysiology	60558	GUF1	OMIM:617065
HP:0001311	Abnormal nervous system electrophysiology	60558	GUF1	ORPHA:3451
HP:0001311	Abnormal nervous system electrophysiology	51124	IER3IP1	OMIM:614231
HP:0001311	Abnormal nervous system electrophysiology	26227	PHGDH	OMIM:601815
HP:0001311	Abnormal nervous system electrophysiology	7358	UGDH	OMIM:618792
HP:0001311	Abnormal nervous system electrophysiology	4190	MDH1	OMIM:618959
HP:0001311	Abnormal nervous system electrophysiology	9373	PLAA	ORPHA:521426
HP:0001311	Abnormal nervous system electrophysiology	55704	CCDC88A	OMIM:617507
HP:0001311	Abnormal nervous system electrophysiology	10297	APC2	OMIM:618677
HP:0001311	Abnormal nervous system electrophysiology	9440	MED17	OMIM:613668
HP:0001311	Abnormal nervous system electrophysiology	221692	PHACTR1	ORPHA:3451
HP:0001311	Abnormal nervous system electrophysiology	221692	PHACTR1	OMIM:618298
HP:0001311	Abnormal nervous system electrophysiology	10695	CNPY3	ORPHA:3451
HP:0001311	Abnormal nervous system electrophysiology	10695	CNPY3	OMIM:617929
HP:0001311	Abnormal nervous system electrophysiology	11152	WDR45	ORPHA:3451
HP:0001311	Abnormal nervous system electrophysiology	10681	GNB5	ORPHA:542306
HP:0001311	Abnormal nervous system electrophysiology	55739	NAXD	OMIM:618321
HP:0001311	Abnormal nervous system electrophysiology	284098	PIGW	OMIM:616025
HP:0001311	Abnormal nervous system electrophysiology	440	ASNS	OMIM:615574
HP:0001311	Abnormal nervous system electrophysiology	79718	TBL1XR1	OMIM:616944
HP:0001311	Abnormal nervous system electrophysiology	51294	PCDH12	OMIM:251280
HP:0001311	Abnormal nervous system electrophysiology	64116	SLC39A8	ORPHA:468699
HP:0001311	Abnormal nervous system electrophysiology	6509	SLC1A4	ORPHA:447997
HP:0001311	Abnormal nervous system electrophysiology	2801	GOLGA2	OMIM:620240
HP:0001311	Abnormal nervous system electrophysiology	10195	ALG3	OMIM:601110
HP:0001311	Abnormal nervous system electrophysiology	51733	UPB1	OMIM:613161
HP:0001311	Abnormal nervous system electrophysiology	7040	TGFB1	OMIM:618213
HP:0001311	Abnormal nervous system electrophysiology	55753	OGDHL	OMIM:619701
HP:0001311	Abnormal nervous system electrophysiology	90952	ESAM	OMIM:620371
HP:0001311	Abnormal nervous system electrophysiology	285362	SUMF1	ORPHA:585
HP:0001311	Abnormal nervous system electrophysiology	4914	NTRK1	ORPHA:642
HP:0001311	Abnormal nervous system electrophysiology	5354	PLP1	ORPHA:280234
HP:0001311	Abnormal nervous system electrophysiology	10342	TFG	ORPHA:431329
HP:0001311	Abnormal nervous system electrophysiology	51324	SPG21	ORPHA:101001
HP:0001311	Abnormal nervous system electrophysiology	9150	CTDP1	ORPHA:48431
HP:0001311	Abnormal nervous system electrophysiology	65250	CPLANE1	ORPHA:65684
HP:0001311	Abnormal nervous system electrophysiology	57562	CEP126	ORPHA:65684
HP:0001311	Abnormal nervous system electrophysiology	9342	SNAP29	ORPHA:66631
HP:0001311	Abnormal nervous system electrophysiology	1161	ERCC8	ORPHA:90324
HP:0001311	Abnormal nervous system electrophysiology	1161	ERCC8	ORPHA:90321
HP:0001311	Abnormal nervous system electrophysiology	2074	ERCC6	ORPHA:90324
HP:0001311	Abnormal nervous system electrophysiology	2074	ERCC6	ORPHA:90321
HP:0001311	Abnormal nervous system electrophysiology	8398	PLA2G6	ORPHA:35069
HP:0001311	Abnormal nervous system electrophysiology	100134444	KCNJ18	ORPHA:79102
HP:0001311	Abnormal nervous system electrophysiology	2556	GABRA3	ORPHA:79102
HP:0001311	Abnormal nervous system electrophysiology	779	CACNA1S	ORPHA:79102
HP:0001311	Abnormal nervous system electrophysiology	50846	DHH	ORPHA:168563
HP:0001311	Abnormal nervous system electrophysiology	2072	ERCC4	ORPHA:90321
HP:0001311	Abnormal nervous system electrophysiology	81857	MED25	OMIM:605589
HP:0001311	Abnormal nervous system electrophysiology	8506	CNTNAP1	OMIM:618186
HP:0001311	Abnormal nervous system electrophysiology	50717	DCAF8	OMIM:610100
HP:0001311	Abnormal nervous system electrophysiology	3315	HSPB1	OMIM:606595
HP:0001311	Abnormal nervous system electrophysiology	1959	EGR2	OMIM:607678
HP:0001311	Abnormal nervous system electrophysiology	1959	EGR2	OMIM:605253
HP:0001311	Abnormal nervous system electrophysiology	1959	EGR2	OMIM:145900
HP:0001311	Abnormal nervous system electrophysiology	56704	JPH1	OMIM:607831
HP:0001311	Abnormal nervous system electrophysiology	23095	KIF1B	OMIM:118210
HP:0001311	Abnormal nervous system electrophysiology	90678	LRSAM1	OMIM:614436
HP:0001311	Abnormal nervous system electrophysiology	3710	ITPR3	OMIM:620111
HP:0001311	Abnormal nervous system electrophysiology	8565	YARS1	OMIM:608323
HP:0001311	Abnormal nervous system electrophysiology	1890	TYMP	ORPHA:298
HP:0001311	Abnormal nervous system electrophysiology	3980	LIG3	ORPHA:298
HP:0001311	Abnormal nervous system electrophysiology	50484	RRM2B	ORPHA:298
HP:0001311	Abnormal nervous system electrophysiology	23250	ATP11A	OMIM:619851
HP:0001311	Abnormal nervous system electrophysiology	23321	TRIM2	OMIM:615490
HP:0001311	Abnormal nervous system electrophysiology	57449	PLEKHG5	OMIM:615376
HP:0001311	Abnormal nervous system electrophysiology	81545	FBXO38	OMIM:615575
HP:0001311	Abnormal nervous system electrophysiology	5611	DNAJC3	OMIM:616192
HP:0001311	Abnormal nervous system electrophysiology	84842	HPDL	OMIM:619026
HP:0001311	Abnormal nervous system electrophysiology	57716	PRX	OMIM:614895
HP:0001311	Abnormal nervous system electrophysiology	57716	PRX	OMIM:145900
HP:0001311	Abnormal nervous system electrophysiology	55775	TDP1	OMIM:607250
HP:0001311	Abnormal nervous system electrophysiology	6342	SCP2	OMIM:613724
HP:0001311	Abnormal nervous system electrophysiology	121512	FGD4	OMIM:609311
HP:0001311	Abnormal nervous system electrophysiology	91574	MTRFR	ORPHA:320375
HP:0001311	Abnormal nervous system electrophysiology	10730	YME1L1	OMIM:617302
HP:0001311	Abnormal nervous system electrophysiology	9750	RIPOR2	OMIM:616515
HP:0001311	Abnormal nervous system electrophysiology	3735	KARS1	ORPHA:3240
HP:0001311	Abnormal nervous system electrophysiology	9381	OTOF	OMIM:601071
HP:0001311	Abnormal nervous system electrophysiology	7841	MOGS	ORPHA:79330
HP:0001311	Abnormal nervous system electrophysiology	4747	NEFL	ORPHA:101085
HP:0001311	Abnormal nervous system electrophysiology	6663	SOX10	OMIM:609136
HP:0001311	Abnormal nervous system electrophysiology	79628	SH3TC2	OMIM:601596
HP:0001311	Abnormal nervous system electrophysiology	84668	HYCC1	OMIM:610532
HP:0001311	Abnormal nervous system electrophysiology	5660	PSAP	ORPHA:206436
HP:0001311	Abnormal nervous system electrophysiology	51501	HIKESHI	OMIM:616881
HP:0001311	Abnormal nervous system electrophysiology	10682	EBP	ORPHA:401973
HP:0001311	Abnormal nervous system electrophysiology	64802	NMNAT1	OMIM:619260
HP:0001311	Abnormal nervous system electrophysiology	1910	EDNRB	OMIM:600501
HP:0001311	Abnormal nervous system electrophysiology	10397	NDRG1	OMIM:601455
HP:0001311	Abnormal nervous system electrophysiology	81624	DIAPH3	OMIM:609129
HP:0001311	Abnormal nervous system electrophysiology	4621	MYH3	OMIM:193700
HP:0001311	Abnormal nervous system electrophysiology	57165	GJC2	ORPHA:320401
HP:0001311	Abnormal nervous system electrophysiology	1593	CYP27A1	ORPHA:909
HP:0001311	Abnormal nervous system electrophysiology	9181	ARHGEF2	OMIM:617523
HP:0001311	Abnormal nervous system electrophysiology	4976	OPA1	OMIM:125250
HP:0001311	Abnormal nervous system electrophysiology	4001	LMNB1	ORPHA:99027
HP:0001311	Abnormal nervous system electrophysiology	8898	MTMR2	OMIM:601382
HP:0001311	Abnormal nervous system electrophysiology	7384	UQCRC1	OMIM:619279
HP:0001311	Abnormal nervous system electrophysiology	6652	SORD	OMIM:618912
HP:0001311	Abnormal nervous system electrophysiology	22948	CCT5	OMIM:256840
HP:0001311	Abnormal nervous system electrophysiology	23230	VPS13A	ORPHA:2388
HP:0001311	Abnormal nervous system electrophysiology	8449	DHX16	OMIM:618733
HP:0001311	Abnormal nervous system electrophysiology	81790	RNF170	OMIM:608984
HP:0001311	Abnormal nervous system electrophysiology	4000	LMNA	ORPHA:98856
HP:0001311	Abnormal nervous system electrophysiology	26353	HSPB8	OMIM:608673
HP:0001311	Abnormal nervous system electrophysiology	10558	SPTLC1	ORPHA:36386
HP:0001311	Abnormal nervous system electrophysiology	25923	ATL3	ORPHA:36386
HP:0001311	Abnormal nervous system electrophysiology	9517	SPTLC2	ORPHA:36386
HP:0001311	Abnormal nervous system electrophysiology	51062	ATL1	ORPHA:36386
HP:0001311	Abnormal nervous system electrophysiology	59341	TRPV4	OMIM:606071
HP:0001311	Abnormal nervous system electrophysiology	5981	RFC1	OMIM:614575
HP:0001311	Abnormal nervous system electrophysiology	81846	SBF2	ORPHA:99956
HP:0001311	Abnormal nervous system electrophysiology	4358	MPV17	OMIM:618400
HP:0001311	Abnormal nervous system electrophysiology	3098	HK1	ORPHA:99953
HP:0001311	Abnormal nervous system electrophysiology	1678	TIMM8A	ORPHA:52368
HP:0001311	Abnormal nervous system electrophysiology	6687	SPG7	OMIM:607259
HP:0001311	Abnormal nervous system electrophysiology	5631	PRPS1	ORPHA:1187
HP:0001311	Abnormal nervous system electrophysiology	6310	ATXN1	ORPHA:98755
HP:0001311	Abnormal nervous system electrophysiology	49855	SCAPER	OMIM:618195
HP:0001311	Abnormal nervous system electrophysiology	51109	RDH11	ORPHA:436245
HP:0001311	Abnormal nervous system electrophysiology	4724	NDUFS4	OMIM:252010
HP:0001311	Abnormal nervous system electrophysiology	1340	COX6B1	OMIM:619051
HP:0001311	Abnormal nervous system electrophysiology	9526	MPDU1	ORPHA:79323
HP:0001311	Abnormal nervous system electrophysiology	28962	OSTM1	OMIM:259720
HP:0001311	Abnormal nervous system electrophysiology	443	ASPA	OMIM:271900
HP:0001311	Abnormal nervous system electrophysiology	51604	PIGT	OMIM:615398
HP:0001311	Abnormal nervous system electrophysiology	51604	PIGT	ORPHA:369837
HP:0001311	Abnormal nervous system electrophysiology	8913	CACNA1G	OMIM:618087
HP:0001311	Abnormal nervous system electrophysiology	8218	CLTCL1	ORPHA:453510
HP:0001311	Abnormal nervous system electrophysiology	132	ADK	OMIM:614300
HP:0001311	Abnormal nervous system electrophysiology	85440	DOCK7	ORPHA:411986
HP:0001311	Abnormal nervous system electrophysiology	57468	SLC12A5	ORPHA:293181
HP:0001311	Abnormal nervous system electrophysiology	23236	PLCB1	ORPHA:293181
HP:0001311	Abnormal nervous system electrophysiology	5277	PIGA	ORPHA:293181
HP:0001311	Abnormal nervous system electrophysiology	6821	SUOX	OMIM:272300
HP:0001311	Abnormal nervous system electrophysiology	4615	MYD88	ORPHA:33226
HP:0001311	Abnormal nervous system electrophysiology	1468	SLC25A10	OMIM:618972
HP:0001311	Abnormal nervous system electrophysiology	79587	CARS2	OMIM:616672
HP:0001311	Abnormal nervous system electrophysiology	7280	TUBB2A	OMIM:615763
HP:0001311	Abnormal nervous system electrophysiology	10565	ARFGEF1	OMIM:619964
HP:0001311	Abnormal nervous system electrophysiology	56052	ALG1	OMIM:608540
HP:0001311	Abnormal nervous system electrophysiology	8869	ST3GAL5	OMIM:609056
HP:0001311	Abnormal nervous system electrophysiology	3737	KCNA2	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	8120	AP3B2	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	523	ATP6V1A	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	10991	SLC38A3	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	51343	FZR1	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	3747	KCNC2	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	1917	EEF1A2	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	2558	GABRA5	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	2906	GRIN2D	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	1213	CLTC	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	348980	HCN1	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	25977	NECAP1	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	23241	PACS2	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	16	AARS1	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	6334	SCN8A	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	2555	GABRA2	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	55152	DALRD3	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	26999	CYFIP2	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	4915	NTRK2	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	25973	PARS2	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	23097	CDK19	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	5530	PPP3CA	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	22906	TRAK1	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	2566	GABRG2	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	79876	UBA5	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	6328	SCN3A	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	781	CACNA2D1	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	10659	CELF2	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	774	CACNA1B	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	51412	ACTL6B	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	8867	SYNJ1	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	3745	KCNB1	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	22866	CNKSR2	ORPHA:442835
HP:0001311	Abnormal nervous system electrophysiology	84992	PIGY	OMIM:616809
HP:0001311	Abnormal nervous system electrophysiology	1798	DPAGT1	ORPHA:86309
HP:0001311	Abnormal nervous system electrophysiology	11133	KPTN	ORPHA:397612
HP:0001311	Abnormal nervous system electrophysiology	283987	HID1	OMIM:619983
HP:0001311	Abnormal nervous system electrophysiology	10588	MTHFS	OMIM:618367
HP:0001311	Abnormal nervous system electrophysiology	2893	GRIA4	OMIM:617864
HP:0001311	Abnormal nervous system electrophysiology	22845	DOLK	ORPHA:91131
HP:0001311	Abnormal nervous system electrophysiology	1173	AP2M1	ORPHA:1942
HP:0001311	Abnormal nervous system electrophysiology	340533	NEXMIF	ORPHA:1942
HP:0001311	Abnormal nervous system electrophysiology	6529	SLC6A1	ORPHA:1942
HP:0001311	Abnormal nervous system electrophysiology	501	ALDH7A1	ORPHA:3006
HP:0001311	Abnormal nervous system electrophysiology	11212	PLPBP	ORPHA:3006
HP:0001311	Abnormal nervous system electrophysiology	8912	CACNA1H	ORPHA:64280
HP:0001311	Abnormal nervous system electrophysiology	84720	PIGO	ORPHA:247262
HP:0001311	Abnormal nervous system electrophysiology	93210	PGAP3	ORPHA:247262
HP:0001311	Abnormal nervous system electrophysiology	27315	PGAP2	ORPHA:247262
HP:0001311	Abnormal nervous system electrophysiology	55650	PIGV	ORPHA:247262
HP:0001311	Abnormal nervous system electrophysiology	9487	PIGL	ORPHA:247262
HP:0001311	Abnormal nervous system electrophysiology	10157	AASS	ORPHA:2203
HP:0001311	Abnormal nervous system electrophysiology	785	CACNB4	OMIM:613855
HP:0001311	Abnormal nervous system electrophysiology	785	CACNB4	OMIM:607682
HP:0001311	Abnormal nervous system electrophysiology	57094	CPA6	OMIM:614417
HP:0001311	Abnormal nervous system electrophysiology	112755	STX1B	ORPHA:36387
HP:0001311	Abnormal nervous system electrophysiology	84059	ADGRV1	ORPHA:36387
HP:0001311	Abnormal nervous system electrophysiology	51422	PRKAG2	OMIM:261740
HP:0001311	Abnormal nervous system electrophysiology	94005	PIGS	OMIM:618143
HP:0001311	Abnormal nervous system electrophysiology	8818	DPM2	ORPHA:329178
HP:0001311	Abnormal nervous system electrophysiology	57176	VARS2	OMIM:615917
HP:0001311	Abnormal nervous system electrophysiology	7707	ZNF148	OMIM:617260
HP:0001311	Abnormal nervous system electrophysiology	55163	PNPO	ORPHA:79096
HP:0001311	Abnormal nervous system electrophysiology	275	AMT	OMIM:620398
HP:0001311	Abnormal nervous system electrophysiology	1020	CDK5	OMIM:616342
HP:0001311	Abnormal nervous system electrophysiology	708	C1QBP	OMIM:617713
HP:0001311	Abnormal nervous system electrophysiology	2744	GLS	OMIM:618328
HP:0001311	Abnormal nervous system electrophysiology	91137	SLC25A46	OMIM:619303
HP:0001311	Abnormal nervous system electrophysiology	18	ABAT	OMIM:613163
HP:0001311	Abnormal nervous system electrophysiology	4905	NSF	OMIM:619340
HP:0001311	Abnormal nervous system electrophysiology	51117	COQ4	OMIM:616276
HP:0001311	Abnormal nervous system electrophysiology	221927	BRAT1	OMIM:614498
HP:0001311	Abnormal nervous system electrophysiology	23219	FBXO28	OMIM:619777
HP:0001311	Abnormal nervous system electrophysiology	2554	GABRA1	OMIM:615744
HP:0001311	Abnormal nervous system electrophysiology	55164	SHQ1	OMIM:619922
HP:0001311	Abnormal nervous system electrophysiology	10715	CERS1	OMIM:616230
HP:0001311	Abnormal nervous system electrophysiology	26960	NBEA	OMIM:619157
HP:0001311	Abnormal nervous system electrophysiology	2892	GRIA3	OMIM:300699
HP:0001311	Abnormal nervous system electrophysiology	104	ADARB1	OMIM:618862
HP:0001311	Abnormal nervous system electrophysiology	92335	STRADA	ORPHA:500533
HP:0001311	Abnormal nervous system electrophysiology	2890	GRIA1	OMIM:619931
HP:0001311	Abnormal nervous system electrophysiology	23732	FRRS1L	ORPHA:725
HP:0001311	Abnormal nervous system electrophysiology	10295	BCKDK	OMIM:614923
HP:0001311	Abnormal nervous system electrophysiology	9570	GOSR2	OMIM:620166
HP:0001311	Abnormal nervous system electrophysiology	84081	NSRP1	OMIM:620001
HP:0001311	Abnormal nervous system electrophysiology	57526	PCDH19	ORPHA:33069
HP:0001311	Abnormal nervous system electrophysiology	1137	CHRNA4	ORPHA:98784
HP:0001311	Abnormal nervous system electrophysiology	1135	CHRNA2	ORPHA:98784
HP:0001311	Abnormal nervous system electrophysiology	57010	CABP4	ORPHA:98784
HP:0001311	Abnormal nervous system electrophysiology	1141	CHRNB2	ORPHA:98784
HP:0001311	Abnormal nervous system electrophysiology	57582	KCNT1	ORPHA:98784
HP:0001311	Abnormal nervous system electrophysiology	57582	KCNT1	OMIM:614959
HP:0001311	Abnormal nervous system electrophysiology	1392	CRH	ORPHA:98784
HP:0001311	Abnormal nervous system electrophysiology	5649	RELN	ORPHA:101046
HP:0001311	Abnormal nervous system electrophysiology	9211	LGI1	ORPHA:101046
HP:0001311	Abnormal nervous system electrophysiology	6833	ABCC8	OMIM:618857
HP:0001311	Abnormal nervous system electrophysiology	10844	TUBGCP2	OMIM:618737
HP:0001311	Abnormal nervous system electrophysiology	7407	VARS1	OMIM:617802
HP:0001311	Abnormal nervous system electrophysiology	1476	CSTB	OMIM:254800
HP:0001311	Abnormal nervous system electrophysiology	4131	MAP1B	OMIM:618918
HP:0001311	Abnormal nervous system electrophysiology	154881	KCTD7	ORPHA:263516
HP:0001311	Abnormal nervous system electrophysiology	7355	SLC35A2	ORPHA:356961
HP:0001311	Abnormal nervous system electrophysiology	54872	PIGG	ORPHA:488635
HP:0001311	Abnormal nervous system electrophysiology	54872	PIGG	OMIM:616917
HP:0001311	Abnormal nervous system electrophysiology	1183	CLCN4	ORPHA:485350
HP:0001311	Abnormal nervous system electrophysiology	9361	LONP1	ORPHA:79243
HP:0001311	Abnormal nervous system electrophysiology	5160	PDHA1	ORPHA:79243
HP:0001311	Abnormal nervous system electrophysiology	29968	PSAT1	ORPHA:284417
HP:0001311	Abnormal nervous system electrophysiology	1605	DAG1	ORPHA:370997
HP:0001311	Abnormal nervous system electrophysiology	2746	GLUD1	ORPHA:35878
HP:0001311	Abnormal nervous system electrophysiology	23102	TBC1D2B	OMIM:619323
HP:0001311	Abnormal nervous system electrophysiology	3746	KCNC1	OMIM:616187
HP:0001311	Abnormal nervous system electrophysiology	440138	ALG11	OMIM:613661
HP:0001311	Abnormal nervous system electrophysiology	55367	PIDD1	OMIM:619827
HP:0001311	Abnormal nervous system electrophysiology	8659	ALDH4A1	ORPHA:79101
HP:0001311	Abnormal nervous system electrophysiology	6812	STXBP1	ORPHA:599373
HP:0001311	Abnormal nervous system electrophysiology	54681	P4HTM	OMIM:618493
HP:0001311	Abnormal nervous system electrophysiology	10128	LRPPRC	ORPHA:70472
HP:0001311	Abnormal nervous system electrophysiology	25978	CHMP2B	ORPHA:275864
HP:0001311	Abnormal nervous system electrophysiology	25978	CHMP2B	ORPHA:100070
HP:0001311	Abnormal nervous system electrophysiology	5663	PSEN1	ORPHA:275864
HP:0001311	Abnormal nervous system electrophysiology	5663	PSEN1	ORPHA:100070
HP:0001311	Abnormal nervous system electrophysiology	2896	GRN	ORPHA:275864
HP:0001311	Abnormal nervous system electrophysiology	2896	GRN	ORPHA:100070
HP:0001311	Abnormal nervous system electrophysiology	54664	TMEM106B	ORPHA:275864
HP:0001311	Abnormal nervous system electrophysiology	54664	TMEM106B	ORPHA:100070
HP:0001311	Abnormal nervous system electrophysiology	8878	SQSTM1	ORPHA:275864
HP:0001311	Abnormal nervous system electrophysiology	4137	MAPT	ORPHA:275864
HP:0001311	Abnormal nervous system electrophysiology	4137	MAPT	ORPHA:100070
HP:0001311	Abnormal nervous system electrophysiology	114327	EFHC1	OMIM:254770
HP:0001311	Abnormal nervous system electrophysiology	7030	TFE3	OMIM:301066
HP:0001311	Abnormal nervous system electrophysiology	9289	ADGRG1	ORPHA:98889
HP:0001311	Abnormal nervous system electrophysiology	5297	PI4KA	ORPHA:98889
HP:0001311	Abnormal nervous system electrophysiology	23229	ARHGEF9	ORPHA:163985
HP:0001311	Abnormal nervous system electrophysiology	10273	STUB1	ORPHA:412057
HP:0001311	Abnormal nervous system electrophysiology	26278	SACS	ORPHA:98
HP:0001311	Abnormal nervous system electrophysiology	6253	RTN2	ORPHA:100993
HP:0001311	Abnormal nervous system electrophysiology	51271	UBAP1	ORPHA:100993
HP:0001311	Abnormal nervous system electrophysiology	126129	CPT1C	ORPHA:444099
HP:0001311	Abnormal nervous system electrophysiology	3839	KPNA3	ORPHA:171612
HP:0001311	Abnormal nervous system electrophysiology	9897	WASHC5	ORPHA:100989
HP:0001311	Abnormal nervous system electrophysiology	9197	SLC33A1	ORPHA:171863
HP:0001311	Abnormal nervous system electrophysiology	22	ABCB7	OMIM:301310
HP:0001311	Abnormal nervous system electrophysiology	2903	GRIN2A	ORPHA:98818
HP:0001311	Abnormal nervous system electrophysiology	11342	RNF13	ORPHA:544503
HP:0001311	Abnormal nervous system electrophysiology	5290	PIK3CA	ORPHA:99802
HP:0001311	Abnormal nervous system electrophysiology	2475	MTOR	ORPHA:99802
HP:0001311	Abnormal nervous system electrophysiology	10000	AKT3	ORPHA:99802
HP:0001311	Abnormal nervous system electrophysiology	9900	SV2A	OMIM:620772
HP:0001311	Abnormal nervous system electrophysiology	8131	NPRL3	ORPHA:98820
HP:0001311	Abnormal nervous system electrophysiology	10641	NPRL2	ORPHA:98820
HP:0001311	Abnormal nervous system electrophysiology	9681	DEPDC5	ORPHA:98820
HP:0001311	Abnormal nervous system electrophysiology	127833	SYT2	OMIM:616040
HP:0001311	Abnormal nervous system electrophysiology	3708	ITPR1	OMIM:117360
HP:0001311	Abnormal nervous system electrophysiology	2318	FLNC	ORPHA:171445
HP:0001311	Abnormal nervous system electrophysiology	215	ABCD1	ORPHA:139399
HP:0001311	Abnormal nervous system electrophysiology	80208	SPG11	ORPHA:2822
HP:0001311	Abnormal nervous system electrophysiology	10059	DNM1L	OMIM:610708
HP:0001311	Abnormal nervous system electrophysiology	10283	CWC27	ORPHA:166035
HP:0001311	Abnormal nervous system electrophysiology	27286	SRPX2	ORPHA:163721
HP:0001311	Abnormal nervous system electrophysiology	80036	TRPM3	OMIM:620224
HP:0001311	Abnormal nervous system electrophysiology	387787	LIPT2	OMIM:617668
HP:0001311	Abnormal nervous system electrophysiology	6134	RPL10	ORPHA:459070
HP:0001311	Abnormal nervous system electrophysiology	23067	SETD1B	OMIM:619000
HP:0001311	Abnormal nervous system electrophysiology	10049	DNAJB6	OMIM:603511
HP:0001311	Abnormal nervous system electrophysiology	23064	SETX	OMIM:602433
HP:0001311	Abnormal nervous system electrophysiology	7879	RAB7A	OMIM:600882
HP:0001311	Abnormal nervous system electrophysiology	10280	SIGMAR1	OMIM:605726
HP:0001311	Abnormal nervous system electrophysiology	11117	EMILIN1	OMIM:620080
HP:0001311	Abnormal nervous system electrophysiology	6843	VAMP1	OMIM:618323
HP:0001311	Abnormal nervous system electrophysiology	5375	PMP2	OMIM:618279
HP:0001311	Abnormal nervous system electrophysiology	7317	UBA1	OMIM:301830
HP:0001311	Abnormal nervous system electrophysiology	26580	BSCL2	OMIM:619112
HP:0001311	Abnormal nervous system electrophysiology	6709	SPTAN1	OMIM:620528
HP:0001311	Abnormal nervous system electrophysiology	57863	CADM3	OMIM:619519
HP:0001311	Abnormal nervous system electrophysiology	93627	TBCK	OMIM:616900
HP:0001311	Abnormal nervous system electrophysiology	3425	IDUA	ORPHA:93474
HP:0001311	Abnormal nervous system electrophysiology	3425	IDUA	ORPHA:93473
HP:0001311	Abnormal nervous system electrophysiology	3425	IDUA	ORPHA:93476
HP:0001311	Abnormal nervous system electrophysiology	10935	PRDX3	OMIM:619862
HP:0001311	Abnormal nervous system electrophysiology	2705	GJB1	ORPHA:101075
HP:0001311	Abnormal nervous system electrophysiology	6335	SCN9A	OMIM:243000
HP:0001311	Abnormal nervous system electrophysiology	1291	COL6A1	OMIM:158810
HP:0001311	Abnormal nervous system electrophysiology	84466	MEGF10	OMIM:614399
HP:0001311	Abnormal nervous system electrophysiology	60482	SLC5A7	OMIM:158580
HP:0001311	Abnormal nervous system electrophysiology	2617	GARS1	ORPHA:139536
HP:0001311	Abnormal nervous system electrophysiology	65055	REEP1	ORPHA:139536
HP:0001311	Abnormal nervous system electrophysiology	400916	CHCHD10	ORPHA:276435
HP:0001311	Abnormal nervous system electrophysiology	28982	FLVCR1	ORPHA:88628
HP:0001311	Abnormal nervous system electrophysiology	22880	MORC2	ORPHA:466768
HP:0001311	Abnormal nervous system electrophysiology	57679	ALS2	OMIM:205100
HP:0001311	Abnormal nervous system electrophysiology	7274	TTPA	OMIM:277460
HP:0002533	Abnormal posturing	1678	TIMM8A	OMIM:304700
HP:0002533	Abnormal posturing	57724	EPG5	OMIM:242840
HP:0002533	Abnormal posturing	84909	AOPEP	OMIM:619565
HP:0002533	Abnormal posturing	5826	ABCD4	OMIM:614857
HP:0002533	Abnormal posturing	5621	PRNP	ORPHA:157941
HP:0002533	Abnormal posturing	1861	TOR1A	OMIM:128100
HP:0002533	Abnormal posturing	80025	PANK2	ORPHA:216866
HP:0003690	Limb muscle weakness	6445	SGCG	ORPHA:353
HP:0003690	Limb muscle weakness	91574	MTRFR	ORPHA:254930
HP:0003690	Limb muscle weakness	91574	MTRFR	ORPHA:320375
HP:0003690	Limb muscle weakness	1789	DNMT3B	OMIM:619478
HP:0003690	Limb muscle weakness	9420	CYP7B1	ORPHA:100986
HP:0003690	Limb muscle weakness	9420	CYP7B1	OMIM:270800
HP:0003690	Limb muscle weakness	4744	NEFH	OMIM:616924
HP:0003690	Limb muscle weakness	4744	NEFH	ORPHA:803
HP:0003690	Limb muscle weakness	4747	NEFL	ORPHA:99939
HP:0003690	Limb muscle weakness	2617	GARS1	ORPHA:139536
HP:0003690	Limb muscle weakness	2617	GARS1	OMIM:600794
HP:0003690	Limb muscle weakness	2617	GARS1	OMIM:601472
HP:0003690	Limb muscle weakness	26580	BSCL2	ORPHA:139536
HP:0003690	Limb muscle weakness	65055	REEP1	ORPHA:139536
HP:0003690	Limb muscle weakness	8314	BAP1	ORPHA:2495
HP:0003690	Limb muscle weakness	4771	NF2	ORPHA:2495
HP:0003690	Limb muscle weakness	6598	SMARCB1	ORPHA:2495
HP:0003690	Limb muscle weakness	5155	PDGFB	ORPHA:2495
HP:0003690	Limb muscle weakness	84231	TRAF7	ORPHA:2495
HP:0003690	Limb muscle weakness	6608	SMO	ORPHA:2495
HP:0003690	Limb muscle weakness	207	AKT1	ORPHA:2495
HP:0003690	Limb muscle weakness	5290	PIK3CA	ORPHA:2495
HP:0003690	Limb muscle weakness	7015	TERT	ORPHA:2495
HP:0003690	Limb muscle weakness	51684	SUFU	ORPHA:2495
HP:0003690	Limb muscle weakness	6605	SMARCE1	ORPHA:2495
HP:0003690	Limb muscle weakness	6687	SPG7	ORPHA:99013
HP:0003690	Limb muscle weakness	6687	SPG7	OMIM:607259
HP:0003690	Limb muscle weakness	1959	EGR2	OMIM:607678
HP:0003690	Limb muscle weakness	1959	EGR2	OMIM:605253
HP:0003690	Limb muscle weakness	2581	GALC	ORPHA:206443
HP:0003690	Limb muscle weakness	2581	GALC	ORPHA:206448
HP:0003690	Limb muscle weakness	6305	SBF1	OMIM:615284
HP:0003690	Limb muscle weakness	3074	HEXB	ORPHA:309169
HP:0003690	Limb muscle weakness	8566	PDXK	OMIM:618511
HP:0003690	Limb muscle weakness	63895	PIEZO2	OMIM:617146
HP:0003690	Limb muscle weakness	22880	MORC2	ORPHA:466768
HP:0003690	Limb muscle weakness	10342	TFG	ORPHA:90117
HP:0003690	Limb muscle weakness	11160	ERLIN2	OMIM:620512
HP:0003690	Limb muscle weakness	8565	YARS1	OMIM:608323
HP:0003690	Limb muscle weakness	4038	LRP4	ORPHA:98913
HP:0003690	Limb muscle weakness	1305	COL13A1	ORPHA:98913
HP:0003690	Limb muscle weakness	1144	CHRND	ORPHA:98913
HP:0003690	Limb muscle weakness	4593	MUSK	ORPHA:98913
HP:0003690	Limb muscle weakness	5913	RAPSN	ORPHA:98913
HP:0003690	Limb muscle weakness	375790	AGRN	ORPHA:98913
HP:0003690	Limb muscle weakness	221264	AK9	ORPHA:98913
HP:0003690	Limb muscle weakness	285489	DOK7	ORPHA:98913
HP:0003690	Limb muscle weakness	5456	POU3F4	ORPHA:1435
HP:0003690	Limb muscle weakness	7428	VHL	ORPHA:892
HP:0003690	Limb muscle weakness	595	CCND1	ORPHA:892
HP:0003690	Limb muscle weakness	4508	MT-ATP6	ORPHA:225154
HP:0003690	Limb muscle weakness	23636	NUP62	ORPHA:225154
HP:0003690	Limb muscle weakness	53371	NUP54	ORPHA:225154
HP:0003690	Limb muscle weakness	103	ADAR	ORPHA:225154
HP:0003690	Limb muscle weakness	6709	SPTAN1	OMIM:620528
HP:0003690	Limb muscle weakness	6709	SPTAN1	OMIM:620538
HP:0003690	Limb muscle weakness	55681	SCYL2	ORPHA:1143
HP:0003690	Limb muscle weakness	84570	COL25A1	ORPHA:1143
HP:0003690	Limb muscle weakness	57222	ERGIC1	ORPHA:1143
HP:0003690	Limb muscle weakness	25978	CHMP2B	ORPHA:803
HP:0003690	Limb muscle weakness	3178	HNRNPA1	ORPHA:803
HP:0003690	Limb muscle weakness	8148	TAF15	ORPHA:803
HP:0003690	Limb muscle weakness	5445	PON2	ORPHA:803
HP:0003690	Limb muscle weakness	9217	VAPB	ORPHA:803
HP:0003690	Limb muscle weakness	9217	VAPB	ORPHA:209335
HP:0003690	Limb muscle weakness	8878	SQSTM1	ORPHA:803
HP:0003690	Limb muscle weakness	5630	PRPH	ORPHA:803
HP:0003690	Limb muscle weakness	29110	TBK1	ORPHA:803
HP:0003690	Limb muscle weakness	55830	GLT8D1	ORPHA:803
HP:0003690	Limb muscle weakness	755	CFAP410	ORPHA:803
HP:0003690	Limb muscle weakness	10891	PPARGC1A	ORPHA:803
HP:0003690	Limb muscle weakness	6647	SOD1	ORPHA:803
HP:0003690	Limb muscle weakness	10133	OPTN	ORPHA:803
HP:0003690	Limb muscle weakness	1639	DCTN1	ORPHA:803
HP:0003690	Limb muscle weakness	9896	FIG4	ORPHA:803
HP:0003690	Limb muscle weakness	5444	PON1	ORPHA:803
HP:0003690	Limb muscle weakness	5446	PON3	ORPHA:803
HP:0003690	Limb muscle weakness	5216	PFN1	ORPHA:803
HP:0003690	Limb muscle weakness	9782	MATR3	ORPHA:803
HP:0003690	Limb muscle weakness	54209	TREM2	ORPHA:803
HP:0003690	Limb muscle weakness	283	ANG	ORPHA:803
HP:0003690	Limb muscle weakness	23435	TARDBP	ORPHA:803
HP:0003690	Limb muscle weakness	29978	UBQLN2	ORPHA:803
HP:0003690	Limb muscle weakness	2733	GLE1	ORPHA:803
HP:0003690	Limb muscle weakness	2521	FUS	ORPHA:803
HP:0003690	Limb muscle weakness	4750	NEK1	ORPHA:803
HP:0003690	Limb muscle weakness	6311	ATXN2	ORPHA:803
HP:0003690	Limb muscle weakness	1610	DAO	ORPHA:803
HP:0003690	Limb muscle weakness	2066	ERBB4	ORPHA:803
HP:0003690	Limb muscle weakness	311	ANXA11	ORPHA:803
HP:0003690	Limb muscle weakness	23025	UNC13A	ORPHA:803
HP:0003690	Limb muscle weakness	400916	CHCHD10	ORPHA:803
HP:0003690	Limb muscle weakness	79628	SH3TC2	OMIM:601596
HP:0003690	Limb muscle weakness	23111	SPART	ORPHA:101000
HP:0003690	Limb muscle weakness	2992	GYG1	ORPHA:263297
HP:0003690	Limb muscle weakness	23503	ZFYVE26	ORPHA:100996
HP:0003690	Limb muscle weakness	10667	FARS2	OMIM:617046
HP:0003690	Limb muscle weakness	10801	SEPTIN9	ORPHA:2901
HP:0003690	Limb muscle weakness	2583	B4GALNT1	OMIM:609195
HP:0003690	Limb muscle weakness	3798	KIF5A	OMIM:604187
HP:0003690	Limb muscle weakness	29967	LRP12	OMIM:620452
HP:0003690	Limb muscle weakness	121512	FGD4	OMIM:609311
HP:0003690	Limb muscle weakness	291	SLC25A4	ORPHA:254892
HP:0003690	Limb muscle weakness	5428	POLG	ORPHA:254892
HP:0003690	Limb muscle weakness	5428	POLG	OMIM:157640
HP:0003690	Limb muscle weakness	56652	TWNK	ORPHA:254892
HP:0003690	Limb muscle weakness	56652	TWNK	OMIM:609286
HP:0003690	Limb muscle weakness	11232	POLG2	ORPHA:254892
HP:0003690	Limb muscle weakness	11232	POLG2	OMIM:610131
HP:0003690	Limb muscle weakness	50484	RRM2B	ORPHA:254892
HP:0003690	Limb muscle weakness	50484	RRM2B	ORPHA:329336
HP:0003690	Limb muscle weakness	65260	COA7	OMIM:618387
HP:0003690	Limb muscle weakness	5376	PMP22	OMIM:118300
HP:0003690	Limb muscle weakness	5376	PMP22	OMIM:118220
HP:0003690	Limb muscle weakness	100996717	NOTCH2NLC	OMIM:619473
HP:0003690	Limb muscle weakness	246243	RNASEH1	ORPHA:329336
HP:0003690	Limb muscle weakness	9927	MFN2	OMIM:609260
HP:0003690	Limb muscle weakness	9927	MFN2	OMIM:601152
HP:0003690	Limb muscle weakness	2548	GAA	OMIM:232300
HP:0003690	Limb muscle weakness	79912	PYROXD1	OMIM:617258
HP:0003690	Limb muscle weakness	1778	DYNC1H1	OMIM:614228
HP:0003690	Limb muscle weakness	7415	VCP	OMIM:167320
HP:0003690	Limb muscle weakness	7415	VCP	OMIM:613954
HP:0003690	Limb muscle weakness	1134	CHRNA1	OMIM:608930
HP:0003690	Limb muscle weakness	4703	NEB	OMIM:256030
HP:0003690	Limb muscle weakness	4703	NEB	ORPHA:171439
HP:0003690	Limb muscle weakness	58	ACTA1	OMIM:161800
HP:0003690	Limb muscle weakness	58	ACTA1	ORPHA:171439
HP:0003690	Limb muscle weakness	79581	SLC52A2	OMIM:614707
HP:0003690	Limb muscle weakness	3181	HNRNPA2B1	OMIM:620460
HP:0003690	Limb muscle weakness	4000	LMNA	OMIM:181350
HP:0003690	Limb muscle weakness	2670	GFAP	ORPHA:363722
HP:0003690	Limb muscle weakness	23095	KIF1B	OMIM:118210
HP:0003690	Limb muscle weakness	5191	PEX7	OMIM:266500
HP:0003690	Limb muscle weakness	5264	PHYH	OMIM:266500
HP:0003690	Limb muscle weakness	23230	VPS13A	OMIM:200150
HP:0003690	Limb muscle weakness	11149	POPDC1	OMIM:616812
HP:0003690	Limb muscle weakness	3508	IGHMBP2	OMIM:604320
HP:0003690	Limb muscle weakness	540	ATP7B	OMIM:277900
HP:0003690	Limb muscle weakness	8106	PABPN1	OMIM:164300
HP:0003690	Limb muscle weakness	8292	COLQ	OMIM:603034
HP:0003690	Limb muscle weakness	6329	SCN4A	OMIM:620351
HP:0003690	Limb muscle weakness	6329	SCN4A	OMIM:620369
HP:0003690	Limb muscle weakness	270	AMPD1	ORPHA:45
HP:0003690	Limb muscle weakness	272	AMPD3	ORPHA:45
HP:0003690	Limb muscle weakness	1145	CHRNE	OMIM:605809
HP:0003690	Limb muscle weakness	51	ACOX1	OMIM:618960
HP:0003690	Limb muscle weakness	210	ALAD	ORPHA:100924
HP:0003690	Limb muscle weakness	4359	MPZ	OMIM:118200
HP:0003690	Limb muscle weakness	3920	LAMP2	OMIM:300257
HP:0003690	Limb muscle weakness	6389	SDHA	OMIM:619259
HP:0003690	Limb muscle weakness	7072	TIA1	OMIM:619133
HP:0003690	Limb muscle weakness	7169	TPM2	OMIM:609285
HP:0003690	Limb muscle weakness	7169	TPM2	ORPHA:171439
HP:0003690	Limb muscle weakness	7084	TK2	OMIM:609560
HP:0003690	Limb muscle weakness	966	CD59	OMIM:612300
HP:0003690	Limb muscle weakness	6240	RRM1	OMIM:620647
HP:0003690	Limb muscle weakness	84466	MEGF10	OMIM:620249
HP:0003690	Limb muscle weakness	84665	MYPN	ORPHA:171439
HP:0003690	Limb muscle weakness	390594	KBTBD13	ORPHA:171439
HP:0003690	Limb muscle weakness	390594	KBTBD13	OMIM:609273
HP:0003690	Limb muscle weakness	10324	KLHL41	ORPHA:171439
HP:0003690	Limb muscle weakness	7170	TPM3	ORPHA:171439
HP:0003690	Limb muscle weakness	93627	TBCK	OMIM:616900
HP:0003690	Limb muscle weakness	1073	CFL2	OMIM:610687
HP:0003690	Limb muscle weakness	686	BTD	ORPHA:79241
HP:0003690	Limb muscle weakness	57704	GBA2	OMIM:614409
HP:0003690	Limb muscle weakness	5351	PLOD1	ORPHA:1900
HP:0003690	Limb muscle weakness	8139	GAN	ORPHA:643
HP:0003690	Limb muscle weakness	899	CCNF	OMIM:619141
HP:0003690	Limb muscle weakness	4507	MTAP	OMIM:112250
HP:0003690	Limb muscle weakness	57716	PRX	OMIM:614895
HP:0003690	Limb muscle weakness	1140	CHRNB1	OMIM:616313
HP:0003690	Limb muscle weakness	367	AR	OMIM:313200
HP:0003690	Limb muscle weakness	9325	TRIP4	ORPHA:486815
HP:0003690	Limb muscle weakness	9990	SLC12A6	OMIM:218000
HP:0003690	Limb muscle weakness	54808	DYM	ORPHA:239
HP:0003690	Limb muscle weakness	54332	GDAP1	OMIM:608340
HP:0003690	Limb muscle weakness	1756	DMD	ORPHA:206546
HP:0003690	Limb muscle weakness	3339	HSPG2	OMIM:255800
HP:0003690	Limb muscle weakness	1410	CRYAB	OMIM:608810
HP:0003690	Limb muscle weakness	4524	MTHFR	ORPHA:395
HP:0003690	Limb muscle weakness	9897	WASHC5	ORPHA:100989
HP:0003690	Limb muscle weakness	9897	WASHC5	OMIM:603563
HP:0003690	Limb muscle weakness	6683	SPAST	ORPHA:100985
HP:0003690	Limb muscle weakness	6683	SPAST	OMIM:182601
HP:0003690	Limb muscle weakness	23345	SYNE1	ORPHA:88644
HP:0003690	Limb muscle weakness	5994	RFXAP	OMIM:620817
HP:0003690	Limb muscle weakness	80821	DDHD1	OMIM:609340
HP:0003690	Limb muscle weakness	80821	DDHD1	ORPHA:101008
HP:0003690	Limb muscle weakness	8291	DYSF	OMIM:254130
HP:0003690	Limb muscle weakness	8291	DYSF	ORPHA:268
HP:0003690	Limb muscle weakness	1593	CYP27A1	OMIM:213700
HP:0003690	Limb muscle weakness	7138	TNNT1	OMIM:620389
HP:0003690	Limb muscle weakness	825	CAPN3	OMIM:253600
HP:0003690	Limb muscle weakness	825	CAPN3	ORPHA:267
HP:0003690	Limb muscle weakness	123606	NIPA1	OMIM:600363
HP:0003690	Limb muscle weakness	55187	VPS13D	OMIM:607317
HP:0003690	Limb muscle weakness	81790	RNF170	OMIM:619686
HP:0003690	Limb muscle weakness	729920	CRPPA	OMIM:616052
HP:0003690	Limb muscle weakness	518	ATP5MC3	OMIM:619681
HP:0003690	Limb muscle weakness	2137	EXTL3	OMIM:617425
HP:0003690	Limb muscle weakness	2782	GNB1	OMIM:616973
HP:0003690	Limb muscle weakness	3897	L1CAM	ORPHA:306617
HP:0003690	Limb muscle weakness	8891	EIF2B3	OMIM:620313
HP:0003690	Limb muscle weakness	547	KIF1A	OMIM:610357
HP:0003690	Limb muscle weakness	8892	EIF2B2	OMIM:620312
HP:0003690	Limb muscle weakness	25778	DSTYK	OMIM:270750
HP:0003690	Limb muscle weakness	51324	SPG21	OMIM:248900
HP:0003690	Limb muscle weakness	51324	SPG21	ORPHA:101001
HP:0003690	Limb muscle weakness	2273	FHL1	OMIM:300695
HP:0003690	Limb muscle weakness	51116	MRPS2	OMIM:617950
HP:0003690	Limb muscle weakness	9692	PRORP	OMIM:619737
HP:0003690	Limb muscle weakness	1716	DGUOK	ORPHA:329314
HP:0003690	Limb muscle weakness	4358	MPV17	OMIM:256810
HP:0003690	Limb muscle weakness	54463	RETREG1	OMIM:613115
HP:0003690	Limb muscle weakness	5921	RASA1	ORPHA:90307
HP:0003690	Limb muscle weakness	10558	SPTLC1	OMIM:620285
HP:0003690	Limb muscle weakness	10939	AFG3L2	ORPHA:313772
HP:0003690	Limb muscle weakness	10939	AFG3L2	OMIM:614487
HP:0003690	Limb muscle weakness	2332	FMR1	ORPHA:93256
HP:0003690	Limb muscle weakness	10020	GNE	ORPHA:602
HP:0003690	Limb muscle weakness	823	CAPN1	OMIM:616907
HP:0003690	Limb muscle weakness	823	CAPN1	ORPHA:488594
HP:0003690	Limb muscle weakness	112812	FDX2	OMIM:251900
HP:0003690	Limb muscle weakness	857	CAV1	OMIM:606721
HP:0003690	Limb muscle weakness	215	ABCD1	OMIM:300100
HP:0003690	Limb muscle weakness	5297	PI4KA	OMIM:619621
HP:0003690	Limb muscle weakness	80208	SPG11	ORPHA:2822
HP:0003690	Limb muscle weakness	80208	SPG11	OMIM:604360
HP:0003690	Limb muscle weakness	84668	HYCC1	OMIM:610532
HP:0003690	Limb muscle weakness	9907	AP5Z1	OMIM:613647
HP:0003690	Limb muscle weakness	9907	AP5Z1	ORPHA:306511
HP:0003690	Limb muscle weakness	9531	BAG3	OMIM:612954
HP:0003690	Limb muscle weakness	2313	FLI1	ORPHA:370348
HP:0003690	Limb muscle weakness	5621	PRNP	ORPHA:356
HP:0003690	Limb muscle weakness	5621	PRNP	OMIM:137440
HP:0003690	Limb muscle weakness	9997	SCO2	OMIM:604377
HP:0003690	Limb muscle weakness	9997	SCO2	ORPHA:521411
HP:0003690	Limb muscle weakness	79784	MYH14	ORPHA:397744
HP:0003690	Limb muscle weakness	9197	SLC33A1	ORPHA:171863
HP:0003690	Limb muscle weakness	5255	PHKA1	OMIM:300559
HP:0003690	Limb muscle weakness	23259	DDHD2	OMIM:615033
HP:0003690	Limb muscle weakness	3839	KPNA3	OMIM:620106
HP:0003690	Limb muscle weakness	3839	KPNA3	ORPHA:171612
HP:0003690	Limb muscle weakness	3032	HADHB	ORPHA:746
HP:0003690	Limb muscle weakness	3030	HADHA	ORPHA:746
HP:0003690	Limb muscle weakness	100134444	KCNJ18	ORPHA:79102
HP:0003690	Limb muscle weakness	2556	GABRA3	ORPHA:79102
HP:0003690	Limb muscle weakness	779	CACNA1S	ORPHA:79102
HP:0003690	Limb muscle weakness	6606	SMN1	OMIM:253400
HP:0003690	Limb muscle weakness	6607	SMN2	OMIM:253400
HP:0003690	Limb muscle weakness	3766	KCNJ10	ORPHA:199343
HP:0003690	Limb muscle weakness	4763	NF1	OMIM:162210
HP:0003690	Limb muscle weakness	6253	RTN2	OMIM:604805
HP:0003690	Limb muscle weakness	6253	RTN2	ORPHA:100993
HP:0003690	Limb muscle weakness	5165	PDK3	ORPHA:352675
HP:0003690	Limb muscle weakness	3708	ITPR1	OMIM:117360
HP:0003690	Limb muscle weakness	55072	RNF31	OMIM:620632
HP:0003690	Limb muscle weakness	84033	OBSCN	ORPHA:99845
HP:0003690	Limb muscle weakness	23175	LPIN1	ORPHA:99845
HP:0003690	Limb muscle weakness	4512	MT-CO1	ORPHA:99845
HP:0003690	Limb muscle weakness	4514	MT-CO3	ORPHA:99845
HP:0003690	Limb muscle weakness	23299	BICD2	OMIM:615290
HP:0003690	Limb muscle weakness	427	ASAH1	ORPHA:2590
HP:0003690	Limb muscle weakness	81545	FBXO38	OMIM:615575
HP:0003690	Limb muscle weakness	3329	HSPD1	OMIM:605280
HP:0003690	Limb muscle weakness	3329	HSPD1	ORPHA:100994
HP:0003690	Limb muscle weakness	51062	ATL1	OMIM:182600
HP:0003690	Limb muscle weakness	81846	SBF2	ORPHA:99956
HP:0003690	Limb muscle weakness	5354	PLP1	OMIM:312920
HP:0003690	Limb muscle weakness	51271	UBAP1	ORPHA:100993
HP:0003690	Limb muscle weakness	29925	GMPPB	ORPHA:363623
HP:0003690	Limb muscle weakness	3991	LIPE	OMIM:615980
HP:0003690	Limb muscle weakness	10280	SIGMAR1	OMIM:614373
HP:0003690	Limb muscle weakness	16	AARS1	OMIM:613287
HP:0003690	Limb muscle weakness	3315	HSPB1	ORPHA:99940
HP:0003690	Limb muscle weakness	23312	DMXL2	ORPHA:453533
HP:0003690	Limb muscle weakness	2318	FLNC	ORPHA:63273
HP:0003690	Limb muscle weakness	2318	FLNC	ORPHA:171445
HP:0003690	Limb muscle weakness	203547	VMA21	OMIM:310440
HP:0003690	Limb muscle weakness	274	BIN1	ORPHA:169189
HP:0003690	Limb muscle weakness	64419	MTMR14	ORPHA:169189
HP:0003690	Limb muscle weakness	4618	MYF6	ORPHA:169189
HP:0003690	Limb muscle weakness	1785	DNM2	ORPHA:169189
HP:0003690	Limb muscle weakness	6261	RYR1	ORPHA:169189
HP:0003690	Limb muscle weakness	4625	MYH7	ORPHA:59135
HP:0003690	Limb muscle weakness	23556	PIGN	ORPHA:280633
HP:0003690	Limb muscle weakness	3714	JAG2	OMIM:619566
HP:0003690	Limb muscle weakness	6652	SORD	OMIM:618912
HP:0003690	Limb muscle weakness	79048	SECISBP2	ORPHA:171706
HP:0003690	Limb muscle weakness	10073	SNUPN	OMIM:620793
HP:0003690	Limb muscle weakness	22954	TRIM32	ORPHA:1878
HP:0003690	Limb muscle weakness	56983	POGLUT1	OMIM:617232
HP:0003690	Limb muscle weakness	64208	POPDC3	OMIM:618848
HP:0003690	Limb muscle weakness	64856	VWA1	OMIM:619216
HP:0003690	Limb muscle weakness	7273	TTN	ORPHA:609
HP:0003690	Limb muscle weakness	10229	COQ7	OMIM:620402
HP:0003690	Limb muscle weakness	122622	ADSS1	ORPHA:482601
HP:0003690	Limb muscle weakness	2010	EMD	ORPHA:98863
HP:0003690	Limb muscle weakness	4151	MB	OMIM:620286
HP:0003690	Limb muscle weakness	23676	SMPX	OMIM:301075
HP:0003690	Limb muscle weakness	8557	TCAP	OMIM:601954
HP:0003690	Limb muscle weakness	3908	LAMA2	OMIM:618138
HP:0003690	Limb muscle weakness	1371	CPOX	ORPHA:79273
HP:0003690	Limb muscle weakness	90523	MLIP	OMIM:620138
HP:0003690	Limb muscle weakness	3145	HMBS	ORPHA:79276
HP:0003690	Limb muscle weakness	3156	HMGCR	OMIM:620375
HP:0003690	Limb muscle weakness	79188	TMEM43	ORPHA:98853
HP:0003690	Limb muscle weakness	23224	SYNE2	ORPHA:98853
HP:0003690	Limb muscle weakness	203859	ANO5	ORPHA:206549
HP:0003690	Limb muscle weakness	5498	PPOX	ORPHA:79473
HP:0003690	Limb muscle weakness	4141	MARS1	OMIM:616280
HP:0003690	Limb muscle weakness	3094	HINT1	ORPHA:324442
HP:0003690	Limb muscle weakness	3094	HINT1	OMIM:137200
HP:0003690	Limb muscle weakness	127833	SYT2	OMIM:616040
HP:0003690	Limb muscle weakness	59341	TRPV4	OMIM:606071
HP:0003690	Limb muscle weakness	4311	MME	OMIM:617017
HP:0003690	Limb muscle weakness	4311	MME	ORPHA:497764
HP:0003690	Limb muscle weakness	22947	DUX4L1	ORPHA:269
HP:0003690	Limb muscle weakness	2483	FRG1	ORPHA:269
HP:0003690	Limb muscle weakness	23347	SMCHD1	ORPHA:269
HP:0003690	Limb muscle weakness	23347	SMCHD1	OMIM:158901
HP:0003690	Limb muscle weakness	100288687	DUX4	ORPHA:269
HP:0003690	Limb muscle weakness	9499	MYOT	ORPHA:266
HP:0003690	Limb muscle weakness	7879	RAB7A	OMIM:600882
HP:0003690	Limb muscle weakness	10743	RAI1	ORPHA:477817
HP:0003690	Limb muscle weakness	56203	LMOD3	ORPHA:171436
HP:0003690	Limb muscle weakness	6905	TBCE	ORPHA:496756
HP:0003690	Limb muscle weakness	6905	TBCE	OMIM:617207
HP:0003690	Limb muscle weakness	84876	ORAI1	OMIM:615883
HP:0003690	Limb muscle weakness	90678	LRSAM1	OMIM:614436
HP:0003690	Limb muscle weakness	1130	LYST	OMIM:214500
HP:0003690	Limb muscle weakness	1890	TYMP	ORPHA:298
HP:0003690	Limb muscle weakness	3980	LIG3	ORPHA:298
HP:0003690	Limb muscle weakness	729359	PLIN4	OMIM:601846
HP:0003690	Limb muscle weakness	8888	MCM3AP	OMIM:618124
HP:0003690	Limb muscle weakness	5832	ALDH18A1	OMIM:616586
HP:0003690	Limb muscle weakness	116228	COX20	OMIM:619054
HP:0003690	Limb muscle weakness	182	JAG1	OMIM:619574
HP:0003690	Limb muscle weakness	26278	SACS	ORPHA:98
HP:0003690	Limb muscle weakness	57190	SELENON	ORPHA:2020
HP:0003690	Limb muscle weakness	4633	MYL2	ORPHA:2020
HP:0003690	Limb muscle weakness	3679	ITGA7	ORPHA:2020
HP:0003690	Limb muscle weakness	9200	HACD1	ORPHA:2020
HP:0003690	Limb muscle weakness	51776	MAP3K20	ORPHA:2020
HP:0003690	Limb muscle weakness	64423	INF2	OMIM:614455
HP:0003690	Limb muscle weakness	3735	KARS1	OMIM:613641
HP:0003690	Limb muscle weakness	88	ACTN2	OMIM:618655
HP:0003690	Limb muscle weakness	2783	GNB2	OMIM:619503
HP:0003690	Limb muscle weakness	89874	SLC25A21	OMIM:618811
HP:0003690	Limb muscle weakness	2705	GJB1	ORPHA:1175
HP:0003690	Limb muscle weakness	353116	RILPL1	ORPHA:98897
HP:0003690	Limb muscle weakness	10755	GIPC1	ORPHA:98897
HP:0003690	Limb muscle weakness	25923	ATL3	ORPHA:36386
HP:0003690	Limb muscle weakness	9517	SPTLC2	ORPHA:36386
HP:0003690	Limb muscle weakness	57863	CADM3	OMIM:619519
HP:0003690	Limb muscle weakness	391356	PTRHD1	OMIM:620747
HP:0003690	Limb muscle weakness	476	ATP1A1	OMIM:618036
HP:0003690	Limb muscle weakness	79152	FA2H	ORPHA:171629
HP:0003690	Limb muscle weakness	11155	LDB3	ORPHA:98912
HP:0003690	Limb muscle weakness	1303	COL12A1	ORPHA:610
HP:0003690	Limb muscle weakness	1291	COL6A1	ORPHA:610
HP:0003690	Limb muscle weakness	1292	COL6A2	ORPHA:610
HP:0003690	Limb muscle weakness	1293	COL6A3	ORPHA:610
HP:0003690	Limb muscle weakness	339855	KY	OMIM:617114
HP:0003690	Limb muscle weakness	3300	DNAJB2	OMIM:614881
HP:0003690	Limb muscle weakness	57104	PNPLA2	ORPHA:98908
HP:0003690	Limb muscle weakness	3930	LBR	OMIM:169400
HP:0003690	Limb muscle weakness	1337	COX6A1	OMIM:616039
HP:0003690	Limb muscle weakness	1674	DES	OMIM:181400
HP:0003690	Limb muscle weakness	8729	GBF1	OMIM:606483
HP:0003690	Limb muscle weakness	4137	MAPT	ORPHA:240094
HP:0003690	Limb muscle weakness	11284	PNKP	ORPHA:459033
HP:0003690	Limb muscle weakness	55775	TDP1	ORPHA:94124
HP:0003690	Limb muscle weakness	5339	PLEC	ORPHA:254361
HP:0003690	Limb muscle weakness	200205	IBA57	ORPHA:468661
HP:0003690	Limb muscle weakness	3035	HARS1	ORPHA:488333
HP:0003690	Limb muscle weakness	10908	PNPLA6	OMIM:612020
HP:0003690	Limb muscle weakness	4547	MTTP	ORPHA:14
HP:0003690	Limb muscle weakness	8884	SLC5A6	OMIM:619903
HP:0003690	Limb muscle weakness	7453	WARS1	OMIM:617721
HP:0003690	Limb muscle weakness	55526	DHTKD1	OMIM:615025
HP:0003690	Limb muscle weakness	9131	AIFM1	OMIM:310490
HP:0003690	Limb muscle weakness	8988	HSPB3	OMIM:613376
HP:0003690	Limb muscle weakness	5375	PMP2	OMIM:618279
HP:0003690	Limb muscle weakness	10516	FBLN5	OMIM:619764
HP:0003690	Limb muscle weakness	60482	SLC5A7	ORPHA:98914
HP:0003690	Limb muscle weakness	4649	MYO9A	ORPHA:98914
HP:0003690	Limb muscle weakness	1103	CHAT	ORPHA:98914
HP:0003690	Limb muscle weakness	6576	SLC25A1	ORPHA:98914
HP:0003690	Limb muscle weakness	6843	VAMP1	ORPHA:98914
HP:0003690	Limb muscle weakness	6572	SLC18A3	ORPHA:98914
HP:0003690	Limb muscle weakness	6616	SNAP25	ORPHA:98914
HP:0003690	Limb muscle weakness	26353	HSPB8	OMIM:158590
HP:0003690	Limb muscle weakness	11117	EMILIN1	OMIM:620080
HP:0003690	Limb muscle weakness	57410	SCYL1	ORPHA:466794
HP:0003690	Limb muscle weakness	3098	HK1	ORPHA:99953
HP:0003690	Limb muscle weakness	3098	HK1	OMIM:605285
HP:0003690	Limb muscle weakness	126129	CPT1C	ORPHA:444099
HP:0003690	Limb muscle weakness	10397	NDRG1	ORPHA:99950
HP:0003690	Limb muscle weakness	59345	GNB4	OMIM:615185
HP:0003690	Limb muscle weakness	1757	SARDH	ORPHA:3129
HP:0003690	Limb muscle weakness	2218	FKTN	OMIM:611588
HP:0003690	Limb muscle weakness	10585	POMT1	ORPHA:86812
HP:0001336	Myoclonus	25792	CIZ1	ORPHA:420492
HP:0001336	Myoclonus	5274	SERPINI1	OMIM:604218
HP:0001336	Myoclonus	5621	PRNP	ORPHA:282166
HP:0001336	Myoclonus	5621	PRNP	OMIM:600072
HP:0001336	Myoclonus	5621	PRNP	ORPHA:466
HP:0001336	Myoclonus	5621	PRNP	OMIM:123400
HP:0001336	Myoclonus	5621	PRNP	OMIM:137440
HP:0001336	Myoclonus	3064	HTT	ORPHA:399
HP:0001336	Myoclonus	3064	HTT	ORPHA:248111
HP:0001336	Myoclonus	6515	SLC2A3	ORPHA:399
HP:0001336	Myoclonus	158	ADSL	OMIM:103050
HP:0001336	Myoclonus	10617	STAMBP	OMIM:614261
HP:0001336	Myoclonus	6309	SC5D	ORPHA:46059
HP:0001336	Myoclonus	51102	MECR	ORPHA:508093
HP:0001336	Myoclonus	51102	MECR	OMIM:617282
HP:0001336	Myoclonus	5238	PGM3	ORPHA:443811
HP:0001336	Myoclonus	5238	PGM3	OMIM:615816
HP:0001336	Myoclonus	785	CACNB4	OMIM:613855
HP:0001336	Myoclonus	785	CACNB4	OMIM:607682
HP:0001336	Myoclonus	55624	POMGNT1	OMIM:253280
HP:0001336	Myoclonus	10667	FARS2	OMIM:614946
HP:0001336	Myoclonus	10667	FARS2	ORPHA:466722
HP:0001336	Myoclonus	51343	FZR1	OMIM:620145
HP:0001336	Myoclonus	51343	FZR1	ORPHA:442835
HP:0001336	Myoclonus	4758	NEU1	OMIM:256550
HP:0001336	Myoclonus	4758	NEU1	ORPHA:93399
HP:0001336	Myoclonus	4758	NEU1	ORPHA:812
HP:0001336	Myoclonus	4758	NEU1	ORPHA:93400
HP:0001336	Myoclonus	132158	GLYCTK	ORPHA:941
HP:0001336	Myoclonus	132158	GLYCTK	OMIM:220120
HP:0001336	Myoclonus	2731	GLDC	OMIM:605899
HP:0001336	Myoclonus	154881	KCTD7	ORPHA:263516
HP:0001336	Myoclonus	54209	TREM2	OMIM:618193
HP:0001336	Myoclonus	54209	TREM2	ORPHA:1020
HP:0001336	Myoclonus	51218	GLRX5	ORPHA:401866
HP:0001336	Myoclonus	51112	TRAPPC12	ORPHA:500144
HP:0001336	Myoclonus	51112	TRAPPC12	OMIM:617669
HP:0001336	Myoclonus	51506	UFC1	OMIM:618076
HP:0001336	Myoclonus	6311	ATXN2	OMIM:183090
HP:0001336	Myoclonus	8722	CTSF	OMIM:615362
HP:0001336	Myoclonus	56997	COQ8A	ORPHA:139485
HP:0001336	Myoclonus	56997	COQ8A	OMIM:612016
HP:0001336	Myoclonus	6392	SDHD	OMIM:619167
HP:0001336	Myoclonus	57465	TBC1D24	ORPHA:352596
HP:0001336	Myoclonus	57465	TBC1D24	OMIM:608105
HP:0001336	Myoclonus	57465	TBC1D24	ORPHA:79500
HP:0001336	Myoclonus	57465	TBC1D24	OMIM:615338
HP:0001336	Myoclonus	1841	DTYMK	OMIM:619847
HP:0001336	Myoclonus	55689	YEATS2	OMIM:615127
HP:0001336	Myoclonus	55689	YEATS2	ORPHA:86814
HP:0001336	Myoclonus	472	ATM	OMIM:208900
HP:0001336	Myoclonus	54982	CLN6	OMIM:204300
HP:0001336	Myoclonus	10501	SEMA6B	OMIM:618876
HP:0001336	Myoclonus	5610	EIF2AK2	OMIM:618877
HP:0001336	Myoclonus	55163	PNPO	ORPHA:79096
HP:0001336	Myoclonus	55163	PNPO	OMIM:610090
HP:0001336	Myoclonus	3781	KCNN2	OMIM:619724
HP:0001336	Myoclonus	3781	KCNN2	OMIM:619725
HP:0001336	Myoclonus	1476	CSTB	OMIM:254800
HP:0001336	Myoclonus	1476	CSTB	ORPHA:308
HP:0001336	Myoclonus	5290	PIK3CA	ORPHA:99802
HP:0001336	Myoclonus	2475	MTOR	ORPHA:99802
HP:0001336	Myoclonus	10000	AKT3	ORPHA:99802
HP:0001336	Myoclonus	846	CASR	OMIM:612899
HP:0001336	Myoclonus	4884	NPTX1	OMIM:620158
HP:0001336	Myoclonus	56246	MRAP	OMIM:607398
HP:0001336	Myoclonus	26580	BSCL2	OMIM:615924
HP:0001336	Myoclonus	26580	BSCL2	ORPHA:363400
HP:0001336	Myoclonus	55768	NGLY1	ORPHA:404454
HP:0001336	Myoclonus	55768	NGLY1	OMIM:615273
HP:0001336	Myoclonus	63982	ANO3	ORPHA:420485
HP:0001336	Myoclonus	79693	YRDC	OMIM:619609
HP:0001336	Myoclonus	23400	ATP13A2	ORPHA:314632
HP:0001336	Myoclonus	23400	ATP13A2	ORPHA:306674
HP:0001336	Myoclonus	23400	ATP13A2	OMIM:606693
HP:0001336	Myoclonus	7259	TSPYL1	ORPHA:168593
HP:0001336	Myoclonus	7054	TH	OMIM:605407
HP:0001336	Myoclonus	7054	TH	ORPHA:101150
HP:0001336	Myoclonus	348	APOE	OMIM:607822
HP:0001336	Myoclonus	348	APOE	OMIM:606889
HP:0001336	Myoclonus	5663	PSEN1	OMIM:607822
HP:0001336	Myoclonus	5663	PSEN1	ORPHA:1020
HP:0001336	Myoclonus	84992	PIGY	ORPHA:247262
HP:0001336	Myoclonus	84720	PIGO	ORPHA:247262
HP:0001336	Myoclonus	93210	PGAP3	ORPHA:247262
HP:0001336	Myoclonus	284098	PIGW	ORPHA:247262
HP:0001336	Myoclonus	27315	PGAP2	ORPHA:247262
HP:0001336	Myoclonus	55650	PIGV	ORPHA:247262
HP:0001336	Myoclonus	9487	PIGL	ORPHA:247262
HP:0001336	Myoclonus	535	ATP6V0A1	OMIM:619971
HP:0001336	Myoclonus	3074	HEXB	ORPHA:309155
HP:0001336	Myoclonus	2892	GRIA3	OMIM:300699
HP:0001336	Myoclonus	2892	GRIA3	ORPHA:364028
HP:0001336	Myoclonus	1600	DAB1	ORPHA:363710
HP:0001336	Myoclonus	100131801	PET100	OMIM:619055
HP:0001336	Myoclonus	3899	AFF3	OMIM:619297
HP:0001336	Myoclonus	25885	POLR1A	OMIM:616462
HP:0001336	Myoclonus	55037	PTCD3	OMIM:619057
HP:0001336	Myoclonus	1183	CLCN4	ORPHA:485350
HP:0001336	Myoclonus	114034	TOE1	OMIM:614969
HP:0001336	Myoclonus	114034	TOE1	ORPHA:284339
HP:0001336	Myoclonus	5428	POLG	ORPHA:726
HP:0001336	Myoclonus	5428	POLG	OMIM:203700
HP:0001336	Myoclonus	5428	POLG	OMIM:607459
HP:0001336	Myoclonus	5428	POLG	ORPHA:254881
HP:0001336	Myoclonus	5428	POLG	ORPHA:70595
HP:0001336	Myoclonus	54675	CRLS1	OMIM:620167
HP:0001336	Myoclonus	7080	NKX2-1	ORPHA:209905
HP:0001336	Myoclonus	10939	AFG3L2	ORPHA:313772
HP:0001336	Myoclonus	10939	AFG3L2	OMIM:614487
HP:0001336	Myoclonus	55187	VPS13D	ORPHA:95434
HP:0001336	Myoclonus	55187	VPS13D	OMIM:607317
HP:0001336	Myoclonus	27072	VPS41	ORPHA:95434
HP:0001336	Myoclonus	22	ABCB7	OMIM:301310
HP:0001336	Myoclonus	283989	TSEN54	ORPHA:166063
HP:0001336	Myoclonus	283989	TSEN54	OMIM:225753
HP:0001336	Myoclonus	55149	MTPAP	ORPHA:254343
HP:0001336	Myoclonus	1327	COX4I1	OMIM:619060
HP:0001336	Myoclonus	10715	CERS1	OMIM:616230
HP:0001336	Myoclonus	1759	DNM1	ORPHA:2382
HP:0001336	Myoclonus	1759	DNM1	ORPHA:442835
HP:0001336	Myoclonus	1759	DNM1	OMIM:620352
HP:0001336	Myoclonus	2562	GABRB3	ORPHA:2382
HP:0001336	Myoclonus	5602	MAPK10	ORPHA:2382
HP:0001336	Myoclonus	773	CACNA1A	ORPHA:2382
HP:0001336	Myoclonus	773	CACNA1A	ORPHA:442835
HP:0001336	Myoclonus	6323	SCN1A	ORPHA:2382
HP:0001336	Myoclonus	6323	SCN1A	ORPHA:442835
HP:0001336	Myoclonus	6323	SCN1A	OMIM:619317
HP:0001336	Myoclonus	6323	SCN1A	ORPHA:33069
HP:0001336	Myoclonus	23316	CUX2	ORPHA:2382
HP:0001336	Myoclonus	1106	CHD2	ORPHA:2382
HP:0001336	Myoclonus	4566	MT-TK	OMIM:545000
HP:0001336	Myoclonus	4565	MT-TI	OMIM:545000
HP:0001336	Myoclonus	4567	MT-TL1	OMIM:545000
HP:0001336	Myoclonus	4567	MT-TL1	ORPHA:550
HP:0001336	Myoclonus	4571	MT-TP	OMIM:545000
HP:0001336	Myoclonus	4558	MT-TF	OMIM:545000
HP:0001336	Myoclonus	4558	MT-TF	ORPHA:550
HP:0001336	Myoclonus	4697	NDUFA4	OMIM:619065
HP:0001336	Myoclonus	2903	GRIN2A	ORPHA:289266
HP:0001336	Myoclonus	388962	BOLA3	OMIM:614299
HP:0001336	Myoclonus	1201	CLN3	OMIM:204200
HP:0001336	Myoclonus	84342	COG8	ORPHA:95428
HP:0001336	Myoclonus	84342	COG8	OMIM:611182
HP:0001336	Myoclonus	3737	KCNA2	ORPHA:442835
HP:0001336	Myoclonus	3737	KCNA2	OMIM:616366
HP:0001336	Myoclonus	8120	AP3B2	ORPHA:442835
HP:0001336	Myoclonus	523	ATP6V1A	ORPHA:442835
HP:0001336	Myoclonus	10991	SLC38A3	ORPHA:442835
HP:0001336	Myoclonus	3747	KCNC2	ORPHA:442835
HP:0001336	Myoclonus	1917	EEF1A2	ORPHA:442835
HP:0001336	Myoclonus	23219	FBXO28	ORPHA:442835
HP:0001336	Myoclonus	23219	FBXO28	OMIM:619777
HP:0001336	Myoclonus	2561	GABRB2	ORPHA:442835
HP:0001336	Myoclonus	2561	GABRB2	OMIM:617829
HP:0001336	Myoclonus	8831	SYNGAP1	ORPHA:442835
HP:0001336	Myoclonus	2558	GABRA5	ORPHA:442835
HP:0001336	Myoclonus	2906	GRIN2D	ORPHA:442835
HP:0001336	Myoclonus	116150	NUS1	ORPHA:442835
HP:0001336	Myoclonus	1213	CLTC	ORPHA:442835
HP:0001336	Myoclonus	1213	CLTC	OMIM:617854
HP:0001336	Myoclonus	51741	WWOX	ORPHA:442835
HP:0001336	Myoclonus	23334	SZT2	ORPHA:442835
HP:0001336	Myoclonus	348980	HCN1	ORPHA:442835
HP:0001336	Myoclonus	25977	NECAP1	ORPHA:442835
HP:0001336	Myoclonus	23241	PACS2	ORPHA:442835
HP:0001336	Myoclonus	16	AARS1	ORPHA:442835
HP:0001336	Myoclonus	6334	SCN8A	ORPHA:442835
HP:0001336	Myoclonus	9568	GABBR2	ORPHA:442835
HP:0001336	Myoclonus	2555	GABRA2	ORPHA:442835
HP:0001336	Myoclonus	55152	DALRD3	ORPHA:442835
HP:0001336	Myoclonus	26999	CYFIP2	ORPHA:442835
HP:0001336	Myoclonus	4915	NTRK2	ORPHA:442835
HP:0001336	Myoclonus	4915	NTRK2	ORPHA:3451
HP:0001336	Myoclonus	25973	PARS2	ORPHA:442835
HP:0001336	Myoclonus	23097	CDK19	ORPHA:442835
HP:0001336	Myoclonus	2257	FGF12	ORPHA:442835
HP:0001336	Myoclonus	5530	PPP3CA	ORPHA:442835
HP:0001336	Myoclonus	478	ATP1A3	ORPHA:442835
HP:0001336	Myoclonus	22906	TRAK1	ORPHA:442835
HP:0001336	Myoclonus	22906	TRAK1	OMIM:618201
HP:0001336	Myoclonus	2566	GABRG2	ORPHA:442835
HP:0001336	Myoclonus	2566	GABRG2	ORPHA:33069
HP:0001336	Myoclonus	7532	YWHAG	ORPHA:442835
HP:0001336	Myoclonus	79876	UBA5	ORPHA:442835
HP:0001336	Myoclonus	6328	SCN3A	ORPHA:442835
HP:0001336	Myoclonus	781	CACNA2D1	ORPHA:442835
HP:0001336	Myoclonus	10659	CELF2	ORPHA:442835
HP:0001336	Myoclonus	774	CACNA1B	ORPHA:442835
HP:0001336	Myoclonus	774	CACNA1B	OMIM:618497
HP:0001336	Myoclonus	51412	ACTL6B	ORPHA:442835
HP:0001336	Myoclonus	2290	FOXG1	ORPHA:442835
HP:0001336	Myoclonus	6506	SLC1A2	ORPHA:442835
HP:0001336	Myoclonus	8867	SYNJ1	ORPHA:442835
HP:0001336	Myoclonus	8867	SYNJ1	ORPHA:391411
HP:0001336	Myoclonus	477	ATP1A2	ORPHA:442835
HP:0001336	Myoclonus	3745	KCNB1	ORPHA:442835
HP:0001336	Myoclonus	284111	SLC13A5	ORPHA:442835
HP:0001336	Myoclonus	22866	CNKSR2	ORPHA:442835
HP:0001336	Myoclonus	79947	DHDDS	ORPHA:442835
HP:0001336	Myoclonus	55361	PI4K2A	OMIM:620732
HP:0001336	Myoclonus	950	SCARB2	OMIM:254900
HP:0001336	Myoclonus	950	SCARB2	ORPHA:308
HP:0001336	Myoclonus	9152	SLC6A5	OMIM:614618
HP:0001336	Myoclonus	9152	SLC6A5	ORPHA:3197
HP:0001336	Myoclonus	144165	PRICKLE1	OMIM:612437
HP:0001336	Myoclonus	144165	PRICKLE1	ORPHA:308
HP:0001336	Myoclonus	6908	TBP	OMIM:607136
HP:0001336	Myoclonus	2629	GBA1	OMIM:231000
HP:0001336	Myoclonus	2743	GLRB	OMIM:614619
HP:0001336	Myoclonus	2743	GLRB	ORPHA:3197
HP:0001336	Myoclonus	4204	MECP2	OMIM:300673
HP:0001336	Myoclonus	6792	CDKL5	OMIM:300672
HP:0001336	Myoclonus	6792	CDKL5	ORPHA:3451
HP:0001336	Myoclonus	6792	CDKL5	ORPHA:1934
HP:0001336	Myoclonus	8398	PLA2G6	ORPHA:199351
HP:0001336	Myoclonus	84138	SLC7A6OS	OMIM:619191
HP:0001336	Myoclonus	8021	NUP214	OMIM:618426
HP:0001336	Myoclonus	3748	KCNC3	ORPHA:98768
HP:0001336	Myoclonus	3748	KCNC3	OMIM:605259
HP:0001336	Myoclonus	60481	ELOVL5	OMIM:615957
HP:0001336	Myoclonus	5582	PRKCG	ORPHA:98763
HP:0001336	Myoclonus	1822	ATN1	ORPHA:101
HP:0001336	Myoclonus	1822	ATN1	OMIM:125370
HP:0001336	Myoclonus	111	ADCY5	OMIM:606703
HP:0001336	Myoclonus	111	ADCY5	OMIM:619647
HP:0001336	Myoclonus	111	ADCY5	ORPHA:324588
HP:0001336	Myoclonus	111	ADCY5	OMIM:619651
HP:0001336	Myoclonus	9533	POLR1C	OMIM:616494
HP:0001336	Myoclonus	2720	GLB1	OMIM:230650
HP:0001336	Myoclonus	2904	GRIN2B	OMIM:616139
HP:0001336	Myoclonus	2904	GRIN2B	ORPHA:3451
HP:0001336	Myoclonus	3708	ITPR1	OMIM:117360
HP:0001336	Myoclonus	3708	ITPR1	OMIM:206700
HP:0001336	Myoclonus	221692	PHACTR1	ORPHA:3451
HP:0001336	Myoclonus	6487	ST3GAL3	ORPHA:3451
HP:0001336	Myoclonus	10695	CNPY3	ORPHA:3451
HP:0001336	Myoclonus	23236	PLCB1	ORPHA:3451
HP:0001336	Myoclonus	150094	SIK1	ORPHA:3451
HP:0001336	Myoclonus	150094	SIK1	ORPHA:1934
HP:0001336	Myoclonus	6709	SPTAN1	ORPHA:3451
HP:0001336	Myoclonus	6709	SPTAN1	OMIM:620538
HP:0001336	Myoclonus	60558	GUF1	ORPHA:3451
HP:0001336	Myoclonus	60558	GUF1	OMIM:617065
HP:0001336	Myoclonus	170302	ARX	ORPHA:3451
HP:0001336	Myoclonus	170302	ARX	ORPHA:1934
HP:0001336	Myoclonus	6326	SCN2A	ORPHA:3451
HP:0001336	Myoclonus	6326	SCN2A	ORPHA:1934
HP:0001336	Myoclonus	6326	SCN2A	ORPHA:33069
HP:0001336	Myoclonus	11152	WDR45	ORPHA:3451
HP:0001336	Myoclonus	5277	PIGA	ORPHA:3451
HP:0001336	Myoclonus	5277	PIGA	OMIM:301072
HP:0001336	Myoclonus	5277	PIGA	OMIM:300868
HP:0001336	Myoclonus	3662	IRF4	ORPHA:3452
HP:0001336	Myoclonus	427	ASAH1	ORPHA:2590
HP:0001336	Myoclonus	427	ASAH1	OMIM:159950
HP:0001336	Myoclonus	427	ASAH1	ORPHA:333
HP:0001336	Myoclonus	4677	NARS1	OMIM:619092
HP:0001336	Myoclonus	55739	NAXD	OMIM:618321
HP:0001336	Myoclonus	3798	KIF5A	OMIM:617235
HP:0001336	Myoclonus	55275	VPS53	OMIM:615851
HP:0001336	Myoclonus	5664	PSEN2	ORPHA:1020
HP:0001336	Myoclonus	5664	PSEN2	OMIM:606889
HP:0001336	Myoclonus	10452	TOMM40	ORPHA:1020
HP:0001336	Myoclonus	351	APP	ORPHA:1020
HP:0001336	Myoclonus	351	APP	ORPHA:324708
HP:0001336	Myoclonus	10347	ABCA7	ORPHA:1020
HP:0001336	Myoclonus	6653	SORL1	ORPHA:1020
HP:0001336	Myoclonus	3752	KCND3	OMIM:607346
HP:0001336	Myoclonus	85440	DOCK7	OMIM:615859
HP:0001336	Myoclonus	85440	DOCK7	ORPHA:411986
HP:0001336	Myoclonus	114327	EFHC1	ORPHA:1941
HP:0001336	Myoclonus	84978	FRMD5	OMIM:620094
HP:0001336	Myoclonus	2055	CLN8	OMIM:600143
HP:0001336	Myoclonus	27247	NFU1	OMIM:605711
HP:0001336	Myoclonus	56652	TWNK	OMIM:607459
HP:0001336	Myoclonus	56652	TWNK	ORPHA:70595
HP:0001336	Myoclonus	80331	DNAJC5	OMIM:162350
HP:0001336	Myoclonus	81570	CLPB	OMIM:616271
HP:0001336	Myoclonus	81570	CLPB	ORPHA:445038
HP:0001336	Myoclonus	91137	SLC25A46	OMIM:619303
HP:0001336	Myoclonus	91137	SLC25A46	OMIM:616505
HP:0001336	Myoclonus	3980	LIG3	OMIM:619780
HP:0001336	Myoclonus	25793	FBXO7	ORPHA:171695
HP:0001336	Myoclonus	6622	SNCA	ORPHA:171695
HP:0001336	Myoclonus	6622	SNCA	OMIM:168601
HP:0001336	Myoclonus	79734	KCTD17	OMIM:616398
HP:0001336	Myoclonus	79734	KCTD17	ORPHA:36899
HP:0001336	Myoclonus	6872	TAF1	OMIM:314250
HP:0001336	Myoclonus	6872	TAF1	ORPHA:53351
HP:0001336	Myoclonus	5813	PURA	OMIM:616158
HP:0001336	Myoclonus	5813	PURA	ORPHA:314655
HP:0001336	Myoclonus	78987	CRELD1	OMIM:620771
HP:0001336	Myoclonus	3736	KCNA1	ORPHA:1934
HP:0001336	Myoclonus	9091	PIGQ	ORPHA:1934
HP:0001336	Myoclonus	140679	SLC32A1	ORPHA:1934
HP:0001336	Myoclonus	2775	GNAO1	ORPHA:1934
HP:0001336	Myoclonus	81603	TRIM8	ORPHA:1934
HP:0001336	Myoclonus	2902	GRIN1	ORPHA:1934
HP:0001336	Myoclonus	2902	GRIN1	OMIM:619814
HP:0001336	Myoclonus	2902	GRIN1	OMIM:614254
HP:0001336	Myoclonus	79751	SLC25A22	ORPHA:1934
HP:0001336	Myoclonus	8573	CASK	ORPHA:1934
HP:0001336	Myoclonus	23312	DMXL2	ORPHA:1934
HP:0001336	Myoclonus	2917	GRM7	ORPHA:1934
HP:0001336	Myoclonus	11284	PNKP	ORPHA:1934
HP:0001336	Myoclonus	51227	PIGP	ORPHA:1934
HP:0001336	Myoclonus	6324	SCN1B	ORPHA:1934
HP:0001336	Myoclonus	6324	SCN1B	ORPHA:33069
HP:0001336	Myoclonus	4761	NEUROD2	ORPHA:1934
HP:0001336	Myoclonus	6513	SLC2A1	ORPHA:71277
HP:0001336	Myoclonus	6513	SLC2A1	OMIM:606777
HP:0001336	Myoclonus	3155	HMGCL	ORPHA:20
HP:0001336	Myoclonus	3155	HMGCL	OMIM:246450
HP:0001336	Myoclonus	4572	MT-TQ	ORPHA:550
HP:0001336	Myoclonus	4512	MT-CO1	ORPHA:550
HP:0001336	Myoclonus	4513	MT-CO2	ORPHA:550
HP:0001336	Myoclonus	4514	MT-CO3	ORPHA:550
HP:0001336	Myoclonus	4578	MT-TW	ORPHA:550
HP:0001336	Myoclonus	4540	MT-ND5	ORPHA:550
HP:0001336	Myoclonus	4541	MT-ND6	ORPHA:550
HP:0001336	Myoclonus	4535	MT-ND1	ORPHA:550
HP:0001336	Myoclonus	4538	MT-ND4	ORPHA:550
HP:0001336	Myoclonus	4574	MT-TS1	ORPHA:550
HP:0001336	Myoclonus	4575	MT-TS2	ORPHA:550
HP:0001336	Myoclonus	4564	MT-TH	ORPHA:550
HP:0001336	Myoclonus	1173	AP2M1	OMIM:618587
HP:0001336	Myoclonus	4723	NDUFV1	OMIM:618225
HP:0001336	Myoclonus	2653	GCSH	OMIM:620423
HP:0001336	Myoclonus	9256	TSPOAP1	ORPHA:101150
HP:0001336	Myoclonus	23114	NFASC	OMIM:618356
HP:0001336	Myoclonus	6096	RORB	OMIM:618357
HP:0001336	Myoclonus	5160	PDHA1	OMIM:312170
HP:0001336	Myoclonus	2782	GNB1	OMIM:616973
HP:0001336	Myoclonus	23095	KIF1B	OMIM:256700
HP:0001336	Myoclonus	6900	CNTN2	OMIM:615400
HP:0001336	Myoclonus	6900	CNTN2	ORPHA:86814
HP:0001336	Myoclonus	5660	PSAP	ORPHA:139406
HP:0001336	Myoclonus	5660	PSAP	OMIM:611721
HP:0001336	Myoclonus	5660	PSAP	OMIM:610539
HP:0001336	Myoclonus	5660	PSAP	ORPHA:206436
HP:0001336	Myoclonus	29968	PSAT1	OMIM:610992
HP:0001336	Myoclonus	29968	PSAT1	ORPHA:284417
HP:0001336	Myoclonus	91869	RFT1	OMIM:612015
HP:0001336	Myoclonus	1644	DDC	OMIM:608643
HP:0001336	Myoclonus	8869	ST3GAL5	OMIM:609056
HP:0001336	Myoclonus	7337	UBE3A	ORPHA:98794
HP:0001336	Myoclonus	4948	OCA2	ORPHA:98794
HP:0001336	Myoclonus	4694	NDUFA1	OMIM:301020
HP:0001336	Myoclonus	3192	HNRNPU	OMIM:617391
HP:0001336	Myoclonus	27235	COQ2	OMIM:607426
HP:0001336	Myoclonus	25915	NDUFAF3	OMIM:618240
HP:0001336	Myoclonus	23732	FRRS1L	OMIM:616981
HP:0001336	Myoclonus	55572	FOXRED1	OMIM:618241
HP:0001336	Myoclonus	3746	KCNC1	OMIM:616187
HP:0001336	Myoclonus	378884	NHLRC1	OMIM:620681
HP:0001336	Myoclonus	378884	NHLRC1	ORPHA:501
HP:0001336	Myoclonus	3119	HLA-DQB1	OMIM:123400
HP:0001336	Myoclonus	8604	SLC25A12	OMIM:612949
HP:0001336	Myoclonus	5805	PTS	ORPHA:13
HP:0001336	Myoclonus	23258	DENND5A	OMIM:617281
HP:0001336	Myoclonus	1813	DRD2	ORPHA:36899
HP:0001336	Myoclonus	8910	SGCE	ORPHA:36899
HP:0001336	Myoclonus	8910	SGCE	OMIM:159900
HP:0001336	Myoclonus	1861	TOR1A	ORPHA:36899
HP:0001336	Myoclonus	2741	GLRA1	ORPHA:3197
HP:0001336	Myoclonus	2741	GLRA1	OMIM:149400
HP:0001336	Myoclonus	10243	GPHN	ORPHA:3197
HP:0001336	Myoclonus	10243	GPHN	OMIM:149400
HP:0001336	Myoclonus	84896	ATAD1	ORPHA:3197
HP:0001336	Myoclonus	84896	ATAD1	OMIM:618011
HP:0001336	Myoclonus	9757	KMT2B	OMIM:617284
HP:0001336	Myoclonus	51300	TIMMDC1	OMIM:618251
HP:0001336	Myoclonus	8802	SUCLG1	ORPHA:17
HP:0001336	Myoclonus	23152	CIC	OMIM:617600
HP:0001336	Myoclonus	6304	SATB1	OMIM:619229
HP:0001336	Myoclonus	79736	TEFM	OMIM:620451
HP:0001336	Myoclonus	9997	SCO2	OMIM:604377
HP:0001336	Myoclonus	6611	SMS	ORPHA:3063
HP:0001336	Myoclonus	11212	PLPBP	OMIM:617290
HP:0001336	Myoclonus	11019	LIAS	OMIM:614462
HP:0001336	Myoclonus	56978	PRDM8	OMIM:616640
HP:0001336	Myoclonus	56978	PRDM8	ORPHA:324290
HP:0001336	Myoclonus	4361	MRE11	ORPHA:251347
HP:0001336	Myoclonus	6335	SCN9A	ORPHA:33069
HP:0001336	Myoclonus	2554	GABRA1	ORPHA:33069
HP:0001336	Myoclonus	57526	PCDH19	ORPHA:33069
HP:0001336	Myoclonus	7957	EPM2A	ORPHA:501
HP:0001336	Myoclonus	7957	EPM2A	OMIM:254780
HP:0001336	Myoclonus	526	ATP6V1B2	ORPHA:79500
HP:0001336	Myoclonus	9829	DNAJC6	ORPHA:391411
HP:0001336	Myoclonus	5420	PODXL	ORPHA:391411
HP:0001336	Myoclonus	56910	STARD7	OMIM:607876
HP:0001336	Myoclonus	151	ADRA2B	ORPHA:86814
HP:0001336	Myoclonus	1501	CTNND2	ORPHA:86814
HP:0001336	Myoclonus	10299	MARCHF6	ORPHA:86814
HP:0001336	Myoclonus	10299	MARCHF6	OMIM:613608
HP:0001336	Myoclonus	401474	SAMD12	ORPHA:86814
HP:0001336	Myoclonus	374354	NHLRC2	OMIM:618278
HP:0001336	Myoclonus	9326	ZNHIT3	OMIM:260565
HP:0001336	Myoclonus	55145	THAP1	OMIM:602629
HP:0001336	Myoclonus	55704	CCDC88A	OMIM:617507
HP:0001336	Myoclonus	1200	TPP1	OMIM:204500
HP:0001336	Myoclonus	6663	SOX10	OMIM:609136
HP:0001336	Myoclonus	2593	GAMT	OMIM:612736
HP:0001336	Myoclonus	60386	SLC25A19	OMIM:607196
HP:0001336	Myoclonus	25978	CHMP2B	OMIM:600795
HP:0001336	Myoclonus	4508	MT-ATP6	ORPHA:225154
HP:0001336	Myoclonus	23636	NUP62	ORPHA:225154
HP:0001336	Myoclonus	53371	NUP54	ORPHA:225154
HP:0001336	Myoclonus	103	ADAR	ORPHA:225154
HP:0001336	Myoclonus	2898	GRIK2	OMIM:611092
HP:0001336	Myoclonus	777	CACNA1E	OMIM:618285
HP:0001336	Myoclonus	84823	LMNB2	OMIM:616540
HP:0001336	Myoclonus	5538	PPT1	OMIM:256730
HP:0001336	Myoclonus	1203	CLN5	OMIM:256731
HP:0001336	Myoclonus	4668	NAGA	OMIM:609241
HP:0001336	Myoclonus	4668	NAGA	ORPHA:79279
HP:0001336	Myoclonus	55005	RMND1	OMIM:614922
HP:0001336	Myoclonus	2581	GALC	ORPHA:206436
HP:0001336	Myoclonus	6389	SDHA	OMIM:252011
HP:0001336	Myoclonus	9562	MINPP1	ORPHA:284339
HP:0001336	Myoclonus	5860	QDPR	OMIM:261630
HP:0001336	Myoclonus	1468	SLC25A10	OMIM:618972
HP:0001336	Myoclonus	84274	COQ5	OMIM:619028
HP:0001336	Myoclonus	7305	TYROBP	OMIM:221770
HP:0001336	Myoclonus	79587	CARS2	OMIM:616672
HP:0001336	Myoclonus	9907	AP5Z1	ORPHA:306511
HP:0001336	Myoclonus	9570	GOSR2	OMIM:614018
HP:0001336	Myoclonus	8996	NOL3	OMIM:614937
HP:0001336	Myoclonus	26275	HIBCH	OMIM:250620
HP:0001336	Myoclonus	4613	MYCN	ORPHA:635
HP:0001336	Myoclonus	238	ALK	ORPHA:635
HP:0001336	Myoclonus	389421	LIN28B	ORPHA:635
HP:0001336	Myoclonus	4004	LMO1	ORPHA:635
HP:0001336	Myoclonus	57531	HACE1	ORPHA:635
HP:0001336	Myoclonus	8929	PHOX2B	ORPHA:635
HP:0001336	Myoclonus	25828	TXN2	ORPHA:478029
HP:0001336	Myoclonus	4337	MOCS1	OMIM:252150
HP:0001336	Myoclonus	221927	BRAT1	OMIM:614498
HP:0001336	Myoclonus	4338	MOCS2	OMIM:252160
HP:0001336	Myoclonus	2778	GNAS	ORPHA:94089
HP:0001336	Myoclonus	2778	GNAS	ORPHA:79443
HP:0001336	Myoclonus	2778	GNAS	ORPHA:79444
HP:0001336	Myoclonus	8675	STX16	ORPHA:94089
HP:0001336	Myoclonus	6509	SLC1A4	ORPHA:447997
HP:0001336	Myoclonus	2563	GABRD	ORPHA:307
HP:0001336	Myoclonus	1181	CLCN2	ORPHA:307
HP:0001336	Myoclonus	3786	KCNQ3	ORPHA:307
HP:0001336	Myoclonus	22858	CILK1	ORPHA:307
HP:0001336	Myoclonus	8629	JRK	ORPHA:307
HP:0001336	Myoclonus	1593	CYP27A1	ORPHA:909
HP:0001336	Myoclonus	2670	GFAP	OMIM:203450
HP:0001336	Myoclonus	2670	GFAP	ORPHA:363717
HP:0001336	Myoclonus	2670	GFAP	ORPHA:363722
HP:0001336	Myoclonus	2512	FTL	ORPHA:157846
HP:0001336	Myoclonus	8314	BAP1	ORPHA:2495
HP:0001336	Myoclonus	4771	NF2	ORPHA:2495
HP:0001336	Myoclonus	6598	SMARCB1	ORPHA:2495
HP:0001336	Myoclonus	5155	PDGFB	ORPHA:2495
HP:0001336	Myoclonus	84231	TRAF7	ORPHA:2495
HP:0001336	Myoclonus	6608	SMO	ORPHA:2495
HP:0001336	Myoclonus	207	AKT1	ORPHA:2495
HP:0001336	Myoclonus	7015	TERT	ORPHA:2495
HP:0001336	Myoclonus	51684	SUFU	ORPHA:2495
HP:0001336	Myoclonus	6605	SMARCE1	ORPHA:2495
HP:0001336	Myoclonus	56623	INPP5E	OMIM:213300
HP:0001336	Myoclonus	6095	RORA	OMIM:618060
HP:0001336	Myoclonus	6529	SLC6A1	OMIM:616421
HP:0001336	Myoclonus	1719	DHFR	OMIM:613839
HP:0001336	Myoclonus	10749	KIF1C	ORPHA:397946
HP:0001336	Myoclonus	182	JAG1	OMIM:619574
HP:0001336	Myoclonus	27327	TNRC6A	OMIM:618074
HP:0001336	Myoclonus	9693	RAPGEF2	OMIM:618075
HP:0001336	Myoclonus	2767	GNA11	ORPHA:428
HP:0001336	Myoclonus	22854	NTNG1	ORPHA:3095
HP:0001336	Myoclonus	8243	SMC1A	ORPHA:3095
HP:0001336	Myoclonus	3785	KCNQ2	ORPHA:1949
HP:0001336	Myoclonus	3785	KCNQ2	ORPHA:306
HP:0001336	Myoclonus	8912	CACNA1H	ORPHA:64280
HP:0001336	Myoclonus	10935	PRDX3	OMIM:619862
HP:0001336	Myoclonus	215	ABCD1	ORPHA:139396
HP:0001336	Myoclonus	10815	CPLX1	ORPHA:352582
HP:0001336	Myoclonus	4137	MAPT	ORPHA:240103
HP:0001336	Myoclonus	112476	PRRT2	ORPHA:306
HP:0001336	Myoclonus	10528	NOP56	ORPHA:276198
HP:0002536	Abnormal cortical gyration	4750	NEK1	OMIM:263520
HP:0002536	Abnormal cortical gyration	2879	GPX4	ORPHA:93317
HP:0002536	Abnormal cortical gyration	23417	MLYCD	OMIM:248360
HP:0002536	Abnormal cortical gyration	84942	WDR73	OMIM:251300
HP:0002536	Abnormal cortical gyration	84942	WDR73	ORPHA:2065
HP:0002536	Abnormal cortical gyration	8496	PPFIBP1	OMIM:620024
HP:0002536	Abnormal cortical gyration	11267	SNF8	OMIM:620783
HP:0002536	Abnormal cortical gyration	80232	WDR26	ORPHA:513456
HP:0002536	Abnormal cortical gyration	387119	CEP85L	OMIM:618873
HP:0002536	Abnormal cortical gyration	387119	CEP85L	ORPHA:572013
HP:0002536	Abnormal cortical gyration	8312	AXIN1	OMIM:620558
HP:0002536	Abnormal cortical gyration	4784	NFIX	OMIM:602535
HP:0002536	Abnormal cortical gyration	56915	EXOSC5	OMIM:619576
HP:0002536	Abnormal cortical gyration	7283	TUBG1	OMIM:615412
HP:0002536	Abnormal cortical gyration	23522	KAT6B	OMIM:606170
HP:0002536	Abnormal cortical gyration	1778	DYNC1H1	OMIM:614563
HP:0002536	Abnormal cortical gyration	10716	TBR1	OMIM:606053
HP:0002536	Abnormal cortical gyration	5354	PLP1	ORPHA:280210
HP:0002536	Abnormal cortical gyration	55697	VAC14	ORPHA:3472
HP:0002536	Abnormal cortical gyration	545	ATR	OMIM:210600
HP:0002536	Abnormal cortical gyration	2313	FLI1	ORPHA:2308
HP:0002536	Abnormal cortical gyration	81689	ISCA1	OMIM:617613
HP:0002536	Abnormal cortical gyration	9508	ADAMTS3	ORPHA:2136
HP:0002536	Abnormal cortical gyration	147372	CCBE1	ORPHA:2136
HP:0002536	Abnormal cortical gyration	147372	CCBE1	OMIM:235510
HP:0002536	Abnormal cortical gyration	79633	FAT4	ORPHA:2136
HP:0002536	Abnormal cortical gyration	51002	TPRKB	OMIM:617731
HP:0002536	Abnormal cortical gyration	51002	TPRKB	ORPHA:2065
HP:0002536	Abnormal cortical gyration	5162	PDHB	ORPHA:255138
HP:0002536	Abnormal cortical gyration	4677	NARS1	OMIM:619091
HP:0002536	Abnormal cortical gyration	10463	SLC30A9	OMIM:617595
HP:0002536	Abnormal cortical gyration	55005	RMND1	OMIM:614922
HP:0002536	Abnormal cortical gyration	79087	ALG12	ORPHA:79324
HP:0002536	Abnormal cortical gyration	55262	TRAPPC14	ORPHA:2512
HP:0002536	Abnormal cortical gyration	163786	SASS6	ORPHA:2512
HP:0002536	Abnormal cortical gyration	29920	PYCR2	ORPHA:2512
HP:0002536	Abnormal cortical gyration	84879	MFSD2A	ORPHA:2512
HP:0002536	Abnormal cortical gyration	4176	MCM7	ORPHA:2512
HP:0002536	Abnormal cortical gyration	80254	CEP63	ORPHA:2512
HP:0002536	Abnormal cortical gyration	29081	METTL5	ORPHA:2512
HP:0002536	Abnormal cortical gyration	79023	NUP37	ORPHA:2512
HP:0002536	Abnormal cortical gyration	23310	NCAPD3	ORPHA:2512
HP:0002536	Abnormal cortical gyration	6301	SARS1	ORPHA:2512
HP:0002536	Abnormal cortical gyration	79648	MCPH1	ORPHA:2512
HP:0002536	Abnormal cortical gyration	7109	TRAPPC10	ORPHA:2512
HP:0002536	Abnormal cortical gyration	7453	WARS1	ORPHA:2512
HP:0002536	Abnormal cortical gyration	1911	PHC1	ORPHA:2512
HP:0002536	Abnormal cortical gyration	6884	TAF13	ORPHA:2512
HP:0002536	Abnormal cortical gyration	9662	CEP135	ORPHA:2512
HP:0002536	Abnormal cortical gyration	57082	KNL1	ORPHA:2512
HP:0002536	Abnormal cortical gyration	84978	FRMD5	OMIM:620094
HP:0002536	Abnormal cortical gyration	1496	CTNNA2	OMIM:618174
HP:0002536	Abnormal cortical gyration	10844	TUBGCP2	OMIM:618737
HP:0002536	Abnormal cortical gyration	57122	NUP107	ORPHA:2065
HP:0002536	Abnormal cortical gyration	10785	WDR4	ORPHA:2065
HP:0002536	Abnormal cortical gyration	55746	NUP133	ORPHA:2065
HP:0002536	Abnormal cortical gyration	84520	GON7	ORPHA:2065
HP:0002536	Abnormal cortical gyration	835	CASP2	OMIM:620653
HP:0002536	Abnormal cortical gyration	6792	CDKL5	ORPHA:1934
HP:0002536	Abnormal cortical gyration	3736	KCNA1	ORPHA:1934
HP:0002536	Abnormal cortical gyration	9091	PIGQ	ORPHA:1934
HP:0002536	Abnormal cortical gyration	140679	SLC32A1	ORPHA:1934
HP:0002536	Abnormal cortical gyration	2775	GNAO1	ORPHA:1934
HP:0002536	Abnormal cortical gyration	81603	TRIM8	ORPHA:1934
HP:0002536	Abnormal cortical gyration	79751	SLC25A22	ORPHA:1934
HP:0002536	Abnormal cortical gyration	150094	SIK1	ORPHA:1934
HP:0002536	Abnormal cortical gyration	23312	DMXL2	ORPHA:1934
HP:0002536	Abnormal cortical gyration	2917	GRM7	ORPHA:1934
HP:0002536	Abnormal cortical gyration	6326	SCN2A	ORPHA:1934
HP:0002536	Abnormal cortical gyration	51227	PIGP	ORPHA:1934
HP:0002536	Abnormal cortical gyration	6324	SCN1B	ORPHA:1934
HP:0002536	Abnormal cortical gyration	4761	NEUROD2	ORPHA:1934
HP:0002536	Abnormal cortical gyration	2110	ETFDH	OMIM:231680
HP:0002536	Abnormal cortical gyration	2108	ETFA	OMIM:231680
HP:0002536	Abnormal cortical gyration	2109	ETFB	OMIM:231680
HP:0002536	Abnormal cortical gyration	60	ACTB	OMIM:243310
HP:0002536	Abnormal cortical gyration	60	ACTB	ORPHA:2995
HP:0002536	Abnormal cortical gyration	71	ACTG1	OMIM:614583
HP:0002536	Abnormal cortical gyration	71	ACTG1	ORPHA:2995
HP:0002536	Abnormal cortical gyration	348180	CTU2	OMIM:618142
HP:0002536	Abnormal cortical gyration	25914	RTTN	ORPHA:468631
HP:0002536	Abnormal cortical gyration	25914	RTTN	OMIM:614833
HP:0002536	Abnormal cortical gyration	5649	RELN	OMIM:257320
HP:0002536	Abnormal cortical gyration	10300	KATNB1	OMIM:616212
HP:0002536	Abnormal cortical gyration	84162	BLTP1	OMIM:617822
HP:0002536	Abnormal cortical gyration	347733	TUBB2B	OMIM:610031
HP:0002536	Abnormal cortical gyration	347733	TUBB2B	ORPHA:300573
HP:0002536	Abnormal cortical gyration	55704	CCDC88A	OMIM:617507
HP:0002536	Abnormal cortical gyration	10297	APC2	OMIM:618677
HP:0002536	Abnormal cortical gyration	157922	CAMSAP1	OMIM:620316
HP:0002536	Abnormal cortical gyration	10381	TUBB3	OMIM:614039
HP:0002536	Abnormal cortical gyration	10381	TUBB3	ORPHA:300570
HP:0002536	Abnormal cortical gyration	100506658	OCLN	OMIM:251290
HP:0002536	Abnormal cortical gyration	5048	PAFAH1B1	OMIM:607432
HP:0002536	Abnormal cortical gyration	5048	PAFAH1B1	ORPHA:531
HP:0002536	Abnormal cortical gyration	388015	RTL1	ORPHA:96334
HP:0002536	Abnormal cortical gyration	8788	DLK1	ORPHA:96334
HP:0002536	Abnormal cortical gyration	55384	MEG3	ORPHA:96334
HP:0002536	Abnormal cortical gyration	7846	TUBA1A	OMIM:611603
HP:0002536	Abnormal cortical gyration	7846	TUBA1A	ORPHA:171680
HP:0002536	Abnormal cortical gyration	79068	FTO	OMIM:612938
HP:0002536	Abnormal cortical gyration	2271	FH	OMIM:606812
HP:0002536	Abnormal cortical gyration	284403	WDR62	OMIM:604317
HP:0002536	Abnormal cortical gyration	3090	HIC1	ORPHA:531
HP:0002536	Abnormal cortical gyration	7531	YWHAE	ORPHA:531
HP:0002536	Abnormal cortical gyration	170302	ARX	OMIM:300215
HP:0002536	Abnormal cortical gyration	23545	ATP6V0A2	ORPHA:357074
HP:0002536	Abnormal cortical gyration	523	ATP6V1A	ORPHA:357074
HP:0002536	Abnormal cortical gyration	529	ATP6V1E1	ORPHA:357074
HP:0002536	Abnormal cortical gyration	1020	CDK5	OMIM:616342
HP:0002536	Abnormal cortical gyration	3796	KIF2A	OMIM:615411
HP:0002536	Abnormal cortical gyration	5194	PEX13	OMIM:614883
HP:0002536	Abnormal cortical gyration	23499	MACF1	OMIM:618325
HP:0002536	Abnormal cortical gyration	8777	MPDZ	OMIM:615219
HP:0002536	Abnormal cortical gyration	412	STS	ORPHA:281090
HP:0002536	Abnormal cortical gyration	22930	RAB3GAP1	ORPHA:2510
HP:0002536	Abnormal cortical gyration	25782	RAB3GAP2	ORPHA:2510
HP:0002536	Abnormal cortical gyration	22931	RAB18	ORPHA:2510
HP:0002536	Abnormal cortical gyration	128637	TBC1D20	ORPHA:2510
HP:0002536	Abnormal cortical gyration	29968	PSAT1	ORPHA:284417
HP:0002536	Abnormal cortical gyration	29968	PSAT1	OMIM:616038
HP:0002536	Abnormal cortical gyration	1641	DCX	OMIM:300067
HP:0002536	Abnormal cortical gyration	26276	VPS33B	OMIM:208085
HP:0002536	Abnormal cortical gyration	7161	TP73	OMIM:619466
HP:0002536	Abnormal cortical gyration	51075	TMX2	OMIM:618730
HP:0002536	Abnormal cortical gyration	8738	CRADD	OMIM:614499
HP:0002536	Abnormal cortical gyration	55367	PIDD1	OMIM:619827
HP:0002536	Abnormal cortical gyration	54820	NDE1	OMIM:614019
HP:0002536	Abnormal cortical gyration	63894	VIPAS39	OMIM:613404
HP:0002536	Abnormal cortical gyration	26834	RNU4-2	OMIM:620851
HP:0002536	Abnormal cortical gyration	55644	OSGEP	OMIM:617729
HP:0002536	Abnormal cortical gyration	60386	SLC25A19	ORPHA:99742
HP:0002536	Abnormal cortical gyration	27183	VPS4A	OMIM:619273
HP:0002536	Abnormal cortical gyration	9488	PIGB	OMIM:618580
HP:0002536	Abnormal cortical gyration	29899	GPSM2	OMIM:604213
HP:0002536	Abnormal cortical gyration	8450	CUL4B	OMIM:300354
HP:0002536	Abnormal cortical gyration	1281	COL3A1	OMIM:618343
HP:0002536	Abnormal cortical gyration	26235	FBXL4	OMIM:615471
HP:0002536	Abnormal cortical gyration	10262	SF3B4	OMIM:154400
HP:0002536	Abnormal cortical gyration	894	CCND2	ORPHA:83473
HP:0002536	Abnormal cortical gyration	894	CCND2	OMIM:615938
HP:0002536	Abnormal cortical gyration	5296	PIK3R2	ORPHA:83473
HP:0002536	Abnormal cortical gyration	5296	PIK3R2	OMIM:603387
HP:0002536	Abnormal cortical gyration	10000	AKT3	ORPHA:83473
HP:0002536	Abnormal cortical gyration	10000	AKT3	ORPHA:99802
HP:0002536	Abnormal cortical gyration	10000	AKT3	OMIM:615937
HP:0002536	Abnormal cortical gyration	160418	TMTC3	OMIM:617255
HP:0002536	Abnormal cortical gyration	26128	KIFBP	OMIM:609460
HP:0002536	Abnormal cortical gyration	55605	KIF21A	ORPHA:45358
HP:0002536	Abnormal cortical gyration	401	PHOX2A	ORPHA:45358
HP:0002536	Abnormal cortical gyration	84570	COL25A1	ORPHA:45358
HP:0002536	Abnormal cortical gyration	51807	TUBA8	ORPHA:250972
HP:0002536	Abnormal cortical gyration	6091	ROBO1	OMIM:620305
HP:0002536	Abnormal cortical gyration	79903	NAA60	OMIM:620786
HP:0002536	Abnormal cortical gyration	6328	SCN3A	OMIM:617938
HP:0002536	Abnormal cortical gyration	50814	NSDHL	ORPHA:251383
HP:0002536	Abnormal cortical gyration	50814	NSDHL	OMIM:300831
HP:0002536	Abnormal cortical gyration	9342	SNAP29	ORPHA:66631
HP:0002536	Abnormal cortical gyration	9342	SNAP29	OMIM:609528
HP:0002536	Abnormal cortical gyration	2782	GNB1	ORPHA:488613
HP:0002536	Abnormal cortical gyration	2782	GNB1	OMIM:616973
HP:0002536	Abnormal cortical gyration	23322	RPGRIP1L	ORPHA:220497
HP:0002536	Abnormal cortical gyration	4867	NPHP1	ORPHA:220497
HP:0002536	Abnormal cortical gyration	65062	TMEM237	ORPHA:220497
HP:0002536	Abnormal cortical gyration	65062	TMEM237	ORPHA:475
HP:0002536	Abnormal cortical gyration	54931	TRMT10C	OMIM:616974
HP:0002536	Abnormal cortical gyration	79644	SRD5A3	OMIM:612379
HP:0002536	Abnormal cortical gyration	54806	AHI1	ORPHA:220493
HP:0002536	Abnormal cortical gyration	54806	AHI1	ORPHA:475
HP:0002536	Abnormal cortical gyration	56623	INPP5E	ORPHA:220493
HP:0002536	Abnormal cortical gyration	56623	INPP5E	ORPHA:475
HP:0002536	Abnormal cortical gyration	153241	CEP120	ORPHA:220493
HP:0002536	Abnormal cortical gyration	153241	CEP120	ORPHA:475
HP:0002536	Abnormal cortical gyration	54903	MKS1	ORPHA:220493
HP:0002536	Abnormal cortical gyration	54903	MKS1	ORPHA:475
HP:0002536	Abnormal cortical gyration	95681	CEP41	ORPHA:220493
HP:0002536	Abnormal cortical gyration	95681	CEP41	ORPHA:475
HP:0002536	Abnormal cortical gyration	8320	EOMES	ORPHA:171703
HP:0002536	Abnormal cortical gyration	5610	EIF2AK2	OMIM:618877
HP:0002536	Abnormal cortical gyration	5290	PIK3CA	ORPHA:99802
HP:0002536	Abnormal cortical gyration	5290	PIK3CA	ORPHA:140944
HP:0002536	Abnormal cortical gyration	5290	PIK3CA	ORPHA:60040
HP:0002536	Abnormal cortical gyration	5290	PIK3CA	OMIM:602501
HP:0002536	Abnormal cortical gyration	2475	MTOR	ORPHA:99802
HP:0002536	Abnormal cortical gyration	2475	MTOR	ORPHA:457485
HP:0002536	Abnormal cortical gyration	55780	ERMARD	ORPHA:75857
HP:0002536	Abnormal cortical gyration	26153	KIF26A	OMIM:620156
HP:0002536	Abnormal cortical gyration	2067	ERCC1	OMIM:610758
HP:0002536	Abnormal cortical gyration	5189	PEX1	OMIM:214100
HP:0002536	Abnormal cortical gyration	5189	PEX1	ORPHA:912
HP:0002536	Abnormal cortical gyration	4131	MAP1B	OMIM:618918
HP:0002536	Abnormal cortical gyration	11274	USP18	OMIM:617397
HP:0002536	Abnormal cortical gyration	9361	LONP1	ORPHA:79243
HP:0002536	Abnormal cortical gyration	5160	PDHA1	ORPHA:79243
HP:0002536	Abnormal cortical gyration	8131	NPRL3	ORPHA:98820
HP:0002536	Abnormal cortical gyration	10641	NPRL2	ORPHA:98820
HP:0002536	Abnormal cortical gyration	9681	DEPDC5	ORPHA:98820
HP:0002536	Abnormal cortical gyration	9681	DEPDC5	OMIM:620504
HP:0002536	Abnormal cortical gyration	80311	KLHL15	OMIM:300982
HP:0002536	Abnormal cortical gyration	9401	RECQL4	OMIM:218600
HP:0002536	Abnormal cortical gyration	9839	ZEB2	ORPHA:261552
HP:0002536	Abnormal cortical gyration	9839	ZEB2	ORPHA:261537
HP:0002536	Abnormal cortical gyration	2009	EML1	OMIM:600348
HP:0002536	Abnormal cortical gyration	4330	MN1	OMIM:618774
HP:0002536	Abnormal cortical gyration	64121	RRAGC	OMIM:620609
HP:0002536	Abnormal cortical gyration	23327	NEDD4L	OMIM:617201
HP:0002536	Abnormal cortical gyration	1822	ATN1	OMIM:618494
HP:0002536	Abnormal cortical gyration	26005	C2CD3	OMIM:615948
HP:0002536	Abnormal cortical gyration	57572	DOCK6	OMIM:614219
HP:0002536	Abnormal cortical gyration	9851	KIAA0753	ORPHA:475
HP:0002536	Abnormal cortical gyration	5147	PDE6D	ORPHA:475
HP:0002536	Abnormal cortical gyration	79600	TCTN1	ORPHA:475
HP:0002536	Abnormal cortical gyration	79848	CSPP1	ORPHA:475
HP:0002536	Abnormal cortical gyration	51684	SUFU	ORPHA:475
HP:0002536	Abnormal cortical gyration	51684	SUFU	OMIM:617757
HP:0002536	Abnormal cortical gyration	65250	CPLANE1	ORPHA:475
HP:0002536	Abnormal cortical gyration	65250	CPLANE1	OMIM:277170
HP:0002536	Abnormal cortical gyration	91147	TMEM67	ORPHA:475
HP:0002536	Abnormal cortical gyration	200894	ARL13B	ORPHA:475
HP:0002536	Abnormal cortical gyration	9731	CEP104	ORPHA:475
HP:0002536	Abnormal cortical gyration	23247	KATNIP	ORPHA:475
HP:0002536	Abnormal cortical gyration	219854	TMEM218	ORPHA:475
HP:0002536	Abnormal cortical gyration	9786	KIAA0586	ORPHA:475
HP:0002536	Abnormal cortical gyration	9786	KIAA0586	OMIM:616546
HP:0002536	Abnormal cortical gyration	26123	TCTN3	ORPHA:475
HP:0002536	Abnormal cortical gyration	79867	TCTN2	ORPHA:475
HP:0002536	Abnormal cortical gyration	79867	TCTN2	OMIM:616654
HP:0002536	Abnormal cortical gyration	80776	B9D2	ORPHA:475
HP:0002536	Abnormal cortical gyration	10464	PIBF1	ORPHA:475
HP:0002536	Abnormal cortical gyration	80210	ARMC9	ORPHA:475
HP:0002536	Abnormal cortical gyration	80210	ARMC9	OMIM:617622
HP:0002536	Abnormal cortical gyration	23116	TOGARAM1	ORPHA:475
HP:0002536	Abnormal cortical gyration	25776	CBY1	ORPHA:475
HP:0002536	Abnormal cortical gyration	27077	B9D1	ORPHA:475
HP:0002536	Abnormal cortical gyration	403	ARL3	ORPHA:475
HP:0002536	Abnormal cortical gyration	80173	IFT74	ORPHA:475
HP:0002536	Abnormal cortical gyration	4204	MECP2	OMIM:300673
HP:0002536	Abnormal cortical gyration	4204	MECP2	ORPHA:209370
HP:0002536	Abnormal cortical gyration	23512	SUZ12	OMIM:618786
HP:0002536	Abnormal cortical gyration	112858	TP53RK	OMIM:617730
HP:0002536	Abnormal cortical gyration	6608	SMO	OMIM:601707
HP:0002536	Abnormal cortical gyration	8270	LAGE3	OMIM:301006
HP:0002536	Abnormal cortical gyration	57514	ARHGAP31	OMIM:100300
HP:0002536	Abnormal cortical gyration	4659	PPP1R12A	OMIM:618820
HP:0002536	Abnormal cortical gyration	5828	PEX2	OMIM:614866
HP:0002536	Abnormal cortical gyration	5828	PEX2	ORPHA:912
HP:0002536	Abnormal cortical gyration	526	ATP6V1B2	ORPHA:79500
HP:0002536	Abnormal cortical gyration	57465	TBC1D24	ORPHA:79500
HP:0002536	Abnormal cortical gyration	80781	COL18A1	OMIM:267750
HP:0002536	Abnormal cortical gyration	29925	GMPPB	ORPHA:370959
HP:0002536	Abnormal cortical gyration	2222	FDFT1	OMIM:618156
HP:0002536	Abnormal cortical gyration	3800	KIF5C	OMIM:615282
HP:0002536	Abnormal cortical gyration	9326	ZNHIT3	OMIM:260565
HP:0002536	Abnormal cortical gyration	55640	FLVCR2	OMIM:225790
HP:0002536	Abnormal cortical gyration	9896	FIG4	OMIM:612691
HP:0002536	Abnormal cortical gyration	79143	MBOAT7	OMIM:617188
HP:0002536	Abnormal cortical gyration	10319	LAMC3	OMIM:614115
HP:0002536	Abnormal cortical gyration	55670	PEX26	OMIM:614872
HP:0002536	Abnormal cortical gyration	55670	PEX26	ORPHA:912
HP:0002536	Abnormal cortical gyration	7284	TUFM	OMIM:610678
HP:0002536	Abnormal cortical gyration	11128	POLR3A	ORPHA:3455
HP:0002536	Abnormal cortical gyration	1376	CPT2	OMIM:608836
HP:0002536	Abnormal cortical gyration	1376	CPT2	ORPHA:228308
HP:0002536	Abnormal cortical gyration	4123	MAN2C1	OMIM:619775
HP:0002536	Abnormal cortical gyration	5879	RAC1	OMIM:617751
HP:0002536	Abnormal cortical gyration	5879	RAC1	ORPHA:500159
HP:0002536	Abnormal cortical gyration	6651	SON	ORPHA:500150
HP:0002536	Abnormal cortical gyration	200205	IBA57	OMIM:615330
HP:0002536	Abnormal cortical gyration	1284	COL4A2	OMIM:614483
HP:0002536	Abnormal cortical gyration	23219	FBXO28	OMIM:619777
HP:0002536	Abnormal cortical gyration	5195	PEX14	OMIM:614887
HP:0002536	Abnormal cortical gyration	5195	PEX14	ORPHA:912
HP:0002536	Abnormal cortical gyration	3295	HSD17B4	OMIM:261515
HP:0002536	Abnormal cortical gyration	8295	TRRAP	OMIM:618454
HP:0002536	Abnormal cortical gyration	8884	SLC5A6	OMIM:618973
HP:0002536	Abnormal cortical gyration	5728	PTEN	ORPHA:65285
HP:0002536	Abnormal cortical gyration	57647	DHX37	OMIM:618731
HP:0002536	Abnormal cortical gyration	2902	GRIN1	OMIM:614254
HP:0002536	Abnormal cortical gyration	10243	GPHN	OMIM:615501
HP:0002536	Abnormal cortical gyration	5824	PEX19	ORPHA:912
HP:0002536	Abnormal cortical gyration	8504	PEX3	ORPHA:912
HP:0002536	Abnormal cortical gyration	8799	PEX11B	ORPHA:912
HP:0002536	Abnormal cortical gyration	9409	PEX16	ORPHA:912
HP:0002536	Abnormal cortical gyration	5190	PEX6	ORPHA:912
HP:0002536	Abnormal cortical gyration	5830	PEX5	ORPHA:912
HP:0002536	Abnormal cortical gyration	5193	PEX12	ORPHA:912
HP:0002536	Abnormal cortical gyration	5192	PEX10	ORPHA:912
HP:0002536	Abnormal cortical gyration	5297	PI4KA	OMIM:619708
HP:0002536	Abnormal cortical gyration	5080	PAX6	OMIM:106210
HP:0002536	Abnormal cortical gyration	7490	WT1	OMIM:106210
HP:0002536	Abnormal cortical gyration	90952	ESAM	OMIM:620371
HP:0002536	Abnormal cortical gyration	168667	BMPER	OMIM:608022
HP:0002536	Abnormal cortical gyration	100151683	RNU4ATAC	OMIM:210710
HP:0002536	Abnormal cortical gyration	8239	USP9X	ORPHA:480880
HP:0002536	Abnormal cortical gyration	8239	USP9X	OMIM:300968
HP:0002536	Abnormal cortical gyration	51008	ASCC1	OMIM:616867
HP:0002536	Abnormal cortical gyration	5457	POU4F1	ORPHA:314647
HP:0002536	Abnormal cortical gyration	23261	CAMTA1	ORPHA:314647
HP:0002536	Abnormal cortical gyration	219844	HYLS1	OMIM:236680
HP:0002536	Abnormal cortical gyration	80144	FRAS1	OMIM:219000
HP:0002536	Abnormal cortical gyration	2736	GLI2	OMIM:610829
HP:0002536	Abnormal cortical gyration	1718	DHCR24	ORPHA:35107
HP:0002536	Abnormal cortical gyration	3908	LAMA2	OMIM:607855
HP:0002536	Abnormal cortical gyration	57511	COG6	OMIM:614576
HP:0002536	Abnormal cortical gyration	283989	TSEN54	ORPHA:2524
HP:0002536	Abnormal cortical gyration	116461	TSEN15	ORPHA:2524
HP:0002536	Abnormal cortical gyration	79042	TSEN34	ORPHA:2524
HP:0002536	Abnormal cortical gyration	80746	TSEN2	ORPHA:2524
HP:0002536	Abnormal cortical gyration	51091	SEPSECS	ORPHA:2524
HP:0002536	Abnormal cortical gyration	9373	PLAA	ORPHA:521426
HP:0002536	Abnormal cortical gyration	9373	PLAA	OMIM:617527
HP:0002536	Abnormal cortical gyration	8481	OFD1	OMIM:311200
HP:0002536	Abnormal cortical gyration	477	ATP1A2	OMIM:619602
HP:0002536	Abnormal cortical gyration	11193	WBP4	OMIM:620852
HP:0002536	Abnormal cortical gyration	26227	PHGDH	ORPHA:79351
HP:0002536	Abnormal cortical gyration	6311	ATXN2	ORPHA:98756
HP:0002536	Abnormal cortical gyration	22995	CEP152	OMIM:613823
HP:0002536	Abnormal cortical gyration	79718	TBL1XR1	ORPHA:487825
HP:0002536	Abnormal cortical gyration	84892	POMGNT2	ORPHA:899
HP:0002536	Abnormal cortical gyration	148789	B3GALNT2	ORPHA:899
HP:0002536	Abnormal cortical gyration	79147	FKRP	ORPHA:899
HP:0002536	Abnormal cortical gyration	29954	POMT2	ORPHA:899
HP:0002536	Abnormal cortical gyration	9215	LARGE1	ORPHA:899
HP:0002536	Abnormal cortical gyration	1282	COL4A1	ORPHA:899
HP:0002536	Abnormal cortical gyration	729920	CRPPA	ORPHA:899
HP:0002536	Abnormal cortical gyration	10329	RXYLT1	ORPHA:899
HP:0002536	Abnormal cortical gyration	1605	DAG1	ORPHA:899
HP:0002536	Abnormal cortical gyration	11041	B4GAT1	ORPHA:899
HP:0002536	Abnormal cortical gyration	10585	POMT1	ORPHA:899
HP:0002536	Abnormal cortical gyration	84197	POMK	ORPHA:899
HP:0002536	Abnormal cortical gyration	2218	FKTN	ORPHA:899
HP:0002536	Abnormal cortical gyration	55624	POMGNT1	ORPHA:899
HP:0002536	Abnormal cortical gyration	23229	ARHGEF9	OMIM:300607
HP:0002536	Abnormal cortical gyration	9289	ADGRG1	OMIM:606854
HP:0002536	Abnormal cortical gyration	23265	EXOC7	OMIM:619072
HP:0002536	Abnormal cortical gyration	11113	CIT	OMIM:617090
HP:0002536	Abnormal cortical gyration	84065	TMEM222	OMIM:619470
HP:0002536	Abnormal cortical gyration	10128	LRPPRC	OMIM:220111
HP:0002536	Abnormal cortical gyration	1021	CDK6	OMIM:616080
HP:0002536	Abnormal cortical gyration	23141	ANKLE2	OMIM:616681
HP:0002536	Abnormal cortical gyration	10617	STAMBP	OMIM:614261
HP:0002536	Abnormal cortical gyration	23126	POGZ	OMIM:616364
HP:0002536	Abnormal cortical gyration	2290	FOXG1	OMIM:613454
HP:0002536	Abnormal cortical gyration	8573	CASK	OMIM:300749
HP:0002536	Abnormal cortical gyration	54973	INTS11	OMIM:620428
HP:0002536	Abnormal cortical gyration	55627	SMPD4	OMIM:618622
HP:0002536	Abnormal cortical gyration	116115	ZNF526	OMIM:619877
HP:0002536	Abnormal cortical gyration	7443	VRK1	OMIM:620542
HP:0002536	Abnormal cortical gyration	8405	SPOP	OMIM:618828
HP:0002536	Abnormal cortical gyration	1457	CSNK2A1	OMIM:617062
HP:0002536	Abnormal cortical gyration	10733	PLK4	OMIM:616171
HP:0002536	Abnormal cortical gyration	9276	COPB2	OMIM:619884
HP:0002536	Abnormal cortical gyration	9276	COPB2	OMIM:617800
HP:0002536	Abnormal cortical gyration	1062	CENPE	OMIM:616051
HP:0002536	Abnormal cortical gyration	51124	IER3IP1	OMIM:614231
HP:0002536	Abnormal cortical gyration	5859	QARS1	OMIM:615760
HP:0002536	Abnormal cortical gyration	22983	MAST1	OMIM:618273
HP:0002536	Abnormal cortical gyration	10978	CLP1	ORPHA:411493
HP:0002536	Abnormal cortical gyration	10978	CLP1	OMIM:615803
HP:0002536	Abnormal cortical gyration	51741	WWOX	OMIM:616211
HP:0002536	Abnormal cortical gyration	55755	CDK5RAP2	OMIM:604804
HP:0002536	Abnormal cortical gyration	9442	MED27	OMIM:619286
HP:0002536	Abnormal cortical gyration	91875	TTC5	OMIM:619244
HP:0002536	Abnormal cortical gyration	84340	GFM2	OMIM:618397
HP:0002536	Abnormal cortical gyration	387787	LIPT2	OMIM:617668
HP:0002536	Abnormal cortical gyration	10293	TRAIP	OMIM:616777
HP:0002536	Abnormal cortical gyration	7280	TUBB2A	OMIM:615763
HP:0002536	Abnormal cortical gyration	5591	PRKDC	OMIM:615966
HP:0002536	Abnormal cortical gyration	51112	TRAPPC12	OMIM:617669
HP:0002536	Abnormal cortical gyration	79693	YRDC	OMIM:619609
HP:0002536	Abnormal cortical gyration	259266	ASPM	OMIM:608716
HP:0002536	Abnormal cortical gyration	4001	LMNB1	OMIM:619179
HP:0002536	Abnormal cortical gyration	63925	ZNF335	OMIM:615095
HP:0002536	Abnormal cortical gyration	63925	ZNF335	ORPHA:329228
HP:0002536	Abnormal cortical gyration	7518	XRCC4	OMIM:616541
HP:0002536	Abnormal cortical gyration	440	ASNS	OMIM:615574
HP:0002536	Abnormal cortical gyration	84823	LMNB2	OMIM:616540
HP:0002536	Abnormal cortical gyration	84823	LMNB2	OMIM:619180
HP:0002536	Abnormal cortical gyration	6597	SMARCA4	ORPHA:1465
HP:0002536	Abnormal cortical gyration	6598	SMARCB1	ORPHA:1465
HP:0002536	Abnormal cortical gyration	6659	SOX4	ORPHA:1465
HP:0002536	Abnormal cortical gyration	8289	ARID1A	ORPHA:1465
HP:0002536	Abnormal cortical gyration	5977	DPF2	ORPHA:1465
HP:0002536	Abnormal cortical gyration	6601	SMARCC2	ORPHA:1465
HP:0002536	Abnormal cortical gyration	6602	SMARCD1	ORPHA:1465
HP:0002536	Abnormal cortical gyration	57492	ARID1B	ORPHA:1465
HP:0002536	Abnormal cortical gyration	196528	ARID2	ORPHA:1465
HP:0002536	Abnormal cortical gyration	6605	SMARCE1	ORPHA:1465
HP:0002536	Abnormal cortical gyration	6664	SOX11	ORPHA:1465
HP:0002536	Abnormal cortical gyration	7436	VLDLR	OMIM:224050
HP:0002536	Abnormal cortical gyration	267010	RNU12	OMIM:620208
HP:0002536	Abnormal cortical gyration	9928	KIF14	OMIM:617914
HP:0002536	Abnormal cortical gyration	85459	CEP295	OMIM:620767
HP:0002536	Abnormal cortical gyration	2744	GLS	OMIM:618328
HP:0002536	Abnormal cortical gyration	10015	PDCD6IP	OMIM:620047
HP:0002536	Abnormal cortical gyration	84081	NSRP1	OMIM:620001
HP:0002536	Abnormal cortical gyration	6491	STIL	OMIM:612703
HP:0002536	Abnormal cortical gyration	1781	DYNC1I2	OMIM:618492
HP:0002536	Abnormal cortical gyration	51645	PPIL1	OMIM:619301
HP:0002536	Abnormal cortical gyration	51362	CDC40	OMIM:619302
HP:0002536	Abnormal cortical gyration	3832	KIF11	OMIM:152950
HP:0002536	Abnormal cortical gyration	4700	NDUFA6	OMIM:618253
HP:0002536	Abnormal cortical gyration	85378	TUBGCP6	OMIM:251270
HP:0002536	Abnormal cortical gyration	11284	PNKP	OMIM:613402
HP:0002536	Abnormal cortical gyration	51053	GMNN	OMIM:616835
HP:0002536	Abnormal cortical gyration	29980	DONSON	OMIM:617604
HP:0002536	Abnormal cortical gyration	29980	DONSON	OMIM:251230
HP:0002536	Abnormal cortical gyration	8642	DCHS1	OMIM:601390
HP:0002536	Abnormal cortical gyration	27245	AHDC1	OMIM:615829
HP:0002536	Abnormal cortical gyration	23299	BICD2	OMIM:618291
HP:0002536	Abnormal cortical gyration	6638	SNRPN	ORPHA:177904
HP:0002536	Abnormal cortical gyration	6638	SNRPN	ORPHA:177901
HP:0002536	Abnormal cortical gyration	6638	SNRPN	ORPHA:98754
HP:0002536	Abnormal cortical gyration	4692	NDN	ORPHA:177904
HP:0002536	Abnormal cortical gyration	4692	NDN	ORPHA:177901
HP:0002536	Abnormal cortical gyration	4692	NDN	ORPHA:98754
HP:0002536	Abnormal cortical gyration	54551	MAGEL2	ORPHA:177904
HP:0002536	Abnormal cortical gyration	54551	MAGEL2	ORPHA:177901
HP:0002536	Abnormal cortical gyration	54551	MAGEL2	ORPHA:98754
HP:0002536	Abnormal cortical gyration	4948	OCA2	ORPHA:177904
HP:0002536	Abnormal cortical gyration	4948	OCA2	ORPHA:177901
HP:0002536	Abnormal cortical gyration	4948	OCA2	ORPHA:98754
HP:0002536	Abnormal cortical gyration	23162	MAPK8IP3	OMIM:618443
HP:0002536	Abnormal cortical gyration	10367	MICU1	OMIM:615673
HP:0002536	Abnormal cortical gyration	6472	SHMT2	OMIM:619121
HP:0002536	Abnormal cortical gyration	28514	DLL1	ORPHA:280195
HP:0002536	Abnormal cortical gyration	2253	FGF8	ORPHA:280195
HP:0002536	Abnormal cortical gyration	6496	SIX3	ORPHA:280195
HP:0002536	Abnormal cortical gyration	7050	TGIF1	ORPHA:280195
HP:0002536	Abnormal cortical gyration	4838	NODAL	ORPHA:280195
HP:0002536	Abnormal cortical gyration	6469	SHH	ORPHA:280195
HP:0002536	Abnormal cortical gyration	7546	ZIC2	ORPHA:280195
HP:0002536	Abnormal cortical gyration	2619	GAS1	ORPHA:280195
HP:0002536	Abnormal cortical gyration	84976	DISP1	ORPHA:280195
HP:0002536	Abnormal cortical gyration	8928	FOXH1	ORPHA:280195
HP:0002536	Abnormal cortical gyration	6997	CRIPTO	ORPHA:280195
HP:0002536	Abnormal cortical gyration	5727	PTCH1	ORPHA:280195
HP:0002536	Abnormal cortical gyration	50937	CDON	ORPHA:280195
HP:0002536	Abnormal cortical gyration	478	ATP1A3	OMIM:619606
HP:0002536	Abnormal cortical gyration	54187	NANS	OMIM:610442
HP:0002536	Abnormal cortical gyration	25942	SIN3A	OMIM:613406
HP:0002536	Abnormal cortical gyration	400569	MED11	OMIM:620327
HP:0002536	Abnormal cortical gyration	3912	LAMB1	ORPHA:352682
HP:0002536	Abnormal cortical gyration	59	ACTA2	OMIM:613834
HP:0002536	Abnormal cortical gyration	4613	MYCN	OMIM:620748
HP:0002536	Abnormal cortical gyration	27286	SRPX2	ORPHA:98889
HP:0002536	Abnormal cortical gyration	27286	SRPX2	OMIM:300643
HP:0002536	Abnormal cortical gyration	203068	TUBB	OMIM:615771
HP:0002536	Abnormal cortical gyration	22858	CILK1	OMIM:612651
HP:0002536	Abnormal cortical gyration	4953	ODC1	OMIM:619075
HP:0002536	Abnormal cortical gyration	10524	KAT5	OMIM:619103
HP:0001339	Lissencephaly	4750	NEK1	OMIM:263520
HP:0001339	Lissencephaly	2879	GPX4	ORPHA:93317
HP:0001339	Lissencephaly	26128	KIFBP	OMIM:609460
HP:0001339	Lissencephaly	26128	KIFBP	ORPHA:66629
HP:0001339	Lissencephaly	100151683	RNU4ATAC	OMIM:210710
HP:0001339	Lissencephaly	2290	FOXG1	OMIM:613454
HP:0001339	Lissencephaly	8573	CASK	OMIM:300749
HP:0001339	Lissencephaly	8573	CASK	ORPHA:1934
HP:0001339	Lissencephaly	23417	MLYCD	OMIM:248360
HP:0001339	Lissencephaly	84942	WDR73	OMIM:251300
HP:0001339	Lissencephaly	84942	WDR73	ORPHA:2065
HP:0001339	Lissencephaly	8496	PPFIBP1	OMIM:620024
HP:0001339	Lissencephaly	11267	SNF8	OMIM:620783
HP:0001339	Lissencephaly	50814	NSDHL	ORPHA:251383
HP:0001339	Lissencephaly	50814	NSDHL	OMIM:300831
HP:0001339	Lissencephaly	80232	WDR26	ORPHA:513456
HP:0001339	Lissencephaly	387119	CEP85L	OMIM:618873
HP:0001339	Lissencephaly	387119	CEP85L	ORPHA:572013
HP:0001339	Lissencephaly	9342	SNAP29	ORPHA:66631
HP:0001339	Lissencephaly	9342	SNAP29	OMIM:609528
HP:0001339	Lissencephaly	8312	AXIN1	OMIM:620558
HP:0001339	Lissencephaly	5290	PIK3CA	ORPHA:99802
HP:0001339	Lissencephaly	2475	MTOR	ORPHA:99802
HP:0001339	Lissencephaly	10000	AKT3	ORPHA:99802
HP:0001339	Lissencephaly	4784	NFIX	OMIM:602535
HP:0001339	Lissencephaly	4001	LMNB1	OMIM:619179
HP:0001339	Lissencephaly	56915	EXOSC5	OMIM:619576
HP:0001339	Lissencephaly	7283	TUBG1	OMIM:615412
HP:0001339	Lissencephaly	23522	KAT6B	OMIM:606170
HP:0001339	Lissencephaly	1778	DYNC1H1	OMIM:614563
HP:0001339	Lissencephaly	7436	VLDLR	OMIM:224050
HP:0001339	Lissencephaly	10716	TBR1	OMIM:606053
HP:0001339	Lissencephaly	5354	PLP1	ORPHA:280210
HP:0001339	Lissencephaly	9896	FIG4	ORPHA:3472
HP:0001339	Lissencephaly	9896	FIG4	OMIM:216340
HP:0001339	Lissencephaly	55697	VAC14	ORPHA:3472
HP:0001339	Lissencephaly	79600	TCTN1	OMIM:614173
HP:0001339	Lissencephaly	64121	RRAGC	OMIM:620609
HP:0001339	Lissencephaly	545	ATR	OMIM:210600
HP:0001339	Lissencephaly	8642	DCHS1	OMIM:601390
HP:0001339	Lissencephaly	2313	FLI1	ORPHA:2308
HP:0001339	Lissencephaly	81689	ISCA1	OMIM:617613
HP:0001339	Lissencephaly	9508	ADAMTS3	ORPHA:2136
HP:0001339	Lissencephaly	147372	CCBE1	ORPHA:2136
HP:0001339	Lissencephaly	147372	CCBE1	OMIM:235510
HP:0001339	Lissencephaly	79633	FAT4	ORPHA:2136
HP:0001339	Lissencephaly	51002	TPRKB	OMIM:617731
HP:0001339	Lissencephaly	51002	TPRKB	ORPHA:2065
HP:0001339	Lissencephaly	57514	ARHGAP31	OMIM:100300
HP:0001339	Lissencephaly	5828	PEX2	OMIM:614866
HP:0001339	Lissencephaly	1457	CSNK2A1	OMIM:617062
HP:0001339	Lissencephaly	5162	PDHB	ORPHA:255138
HP:0001339	Lissencephaly	9326	ZNHIT3	OMIM:260565
HP:0001339	Lissencephaly	5192	PEX10	OMIM:614870
HP:0001339	Lissencephaly	84340	GFM2	OMIM:618397
HP:0001339	Lissencephaly	10319	LAMC3	OMIM:614115
HP:0001339	Lissencephaly	79867	TCTN2	OMIM:616654
HP:0001339	Lissencephaly	5591	PRKDC	OMIM:615966
HP:0001339	Lissencephaly	5296	PIK3R2	OMIM:603387
HP:0001339	Lissencephaly	4677	NARS1	OMIM:619091
HP:0001339	Lissencephaly	10463	SLC30A9	OMIM:617595
HP:0001339	Lissencephaly	23219	FBXO28	OMIM:619777
HP:0001339	Lissencephaly	55005	RMND1	OMIM:614922
HP:0001339	Lissencephaly	85459	CEP295	OMIM:620767
HP:0001339	Lissencephaly	1376	CPT2	ORPHA:228308
HP:0001339	Lissencephaly	79087	ALG12	ORPHA:79324
HP:0001339	Lissencephaly	9276	COPB2	ORPHA:2512
HP:0001339	Lissencephaly	11113	CIT	ORPHA:2512
HP:0001339	Lissencephaly	9928	KIF14	ORPHA:2512
HP:0001339	Lissencephaly	22995	CEP152	ORPHA:2512
HP:0001339	Lissencephaly	55262	TRAPPC14	ORPHA:2512
HP:0001339	Lissencephaly	163786	SASS6	ORPHA:2512
HP:0001339	Lissencephaly	29920	PYCR2	ORPHA:2512
HP:0001339	Lissencephaly	84879	MFSD2A	ORPHA:2512
HP:0001339	Lissencephaly	4176	MCM7	ORPHA:2512
HP:0001339	Lissencephaly	80254	CEP63	ORPHA:2512
HP:0001339	Lissencephaly	29081	METTL5	ORPHA:2512
HP:0001339	Lissencephaly	79023	NUP37	ORPHA:2512
HP:0001339	Lissencephaly	23310	NCAPD3	ORPHA:2512
HP:0001339	Lissencephaly	6301	SARS1	ORPHA:2512
HP:0001339	Lissencephaly	55755	CDK5RAP2	ORPHA:2512
HP:0001339	Lissencephaly	79648	MCPH1	ORPHA:2512
HP:0001339	Lissencephaly	6491	STIL	ORPHA:2512
HP:0001339	Lissencephaly	23141	ANKLE2	ORPHA:2512
HP:0001339	Lissencephaly	259266	ASPM	ORPHA:2512
HP:0001339	Lissencephaly	7109	TRAPPC10	ORPHA:2512
HP:0001339	Lissencephaly	7453	WARS1	ORPHA:2512
HP:0001339	Lissencephaly	1911	PHC1	ORPHA:2512
HP:0001339	Lissencephaly	1062	CENPE	ORPHA:2512
HP:0001339	Lissencephaly	6884	TAF13	ORPHA:2512
HP:0001339	Lissencephaly	9662	CEP135	ORPHA:2512
HP:0001339	Lissencephaly	57082	KNL1	ORPHA:2512
HP:0001339	Lissencephaly	1021	CDK6	ORPHA:2512
HP:0001339	Lissencephaly	84978	FRMD5	OMIM:620094
HP:0001339	Lissencephaly	1496	CTNNA2	OMIM:618174
HP:0001339	Lissencephaly	85378	TUBGCP6	OMIM:251270
HP:0001339	Lissencephaly	10844	TUBGCP2	OMIM:618737
HP:0001339	Lissencephaly	79693	YRDC	ORPHA:2065
HP:0001339	Lissencephaly	57122	NUP107	ORPHA:2065
HP:0001339	Lissencephaly	10785	WDR4	ORPHA:2065
HP:0001339	Lissencephaly	55746	NUP133	ORPHA:2065
HP:0001339	Lissencephaly	84520	GON7	ORPHA:2065
HP:0001339	Lissencephaly	112858	TP53RK	ORPHA:2065
HP:0001339	Lissencephaly	8270	LAGE3	ORPHA:2065
HP:0001339	Lissencephaly	835	CASP2	OMIM:620653
HP:0001339	Lissencephaly	6792	CDKL5	ORPHA:1934
HP:0001339	Lissencephaly	3736	KCNA1	ORPHA:1934
HP:0001339	Lissencephaly	9091	PIGQ	ORPHA:1934
HP:0001339	Lissencephaly	140679	SLC32A1	ORPHA:1934
HP:0001339	Lissencephaly	2775	GNAO1	ORPHA:1934
HP:0001339	Lissencephaly	81603	TRIM8	ORPHA:1934
HP:0001339	Lissencephaly	2902	GRIN1	ORPHA:1934
HP:0001339	Lissencephaly	79751	SLC25A22	ORPHA:1934
HP:0001339	Lissencephaly	150094	SIK1	ORPHA:1934
HP:0001339	Lissencephaly	23312	DMXL2	ORPHA:1934
HP:0001339	Lissencephaly	2917	GRM7	ORPHA:1934
HP:0001339	Lissencephaly	11284	PNKP	ORPHA:1934
HP:0001339	Lissencephaly	6326	SCN2A	ORPHA:1934
HP:0001339	Lissencephaly	51227	PIGP	ORPHA:1934
HP:0001339	Lissencephaly	6324	SCN1B	ORPHA:1934
HP:0001339	Lissencephaly	4761	NEUROD2	ORPHA:1934
HP:0001339	Lissencephaly	2110	ETFDH	OMIM:231680
HP:0001339	Lissencephaly	2108	ETFA	OMIM:231680
HP:0001339	Lissencephaly	2109	ETFB	OMIM:231680
HP:0001339	Lissencephaly	60	ACTB	OMIM:243310
HP:0001339	Lissencephaly	60	ACTB	ORPHA:2995
HP:0001339	Lissencephaly	71	ACTG1	OMIM:614583
HP:0001339	Lissencephaly	71	ACTG1	ORPHA:2995
HP:0001339	Lissencephaly	348180	CTU2	OMIM:618142
HP:0001339	Lissencephaly	2218	FKTN	OMIM:253800
HP:0001339	Lissencephaly	2218	FKTN	ORPHA:899
HP:0001339	Lissencephaly	25914	RTTN	ORPHA:468631
HP:0001339	Lissencephaly	25914	RTTN	OMIM:614833
HP:0001339	Lissencephaly	5649	RELN	OMIM:257320
HP:0001339	Lissencephaly	1718	DHCR24	ORPHA:35107
HP:0001339	Lissencephaly	10300	KATNB1	OMIM:616212
HP:0001339	Lissencephaly	84162	BLTP1	OMIM:617822
HP:0001339	Lissencephaly	347733	TUBB2B	OMIM:610031
HP:0001339	Lissencephaly	347733	TUBB2B	ORPHA:300573
HP:0001339	Lissencephaly	55704	CCDC88A	OMIM:617507
HP:0001339	Lissencephaly	10297	APC2	OMIM:618677
HP:0001339	Lissencephaly	157922	CAMSAP1	OMIM:620316
HP:0001339	Lissencephaly	84197	POMK	OMIM:615249
HP:0001339	Lissencephaly	84197	POMK	ORPHA:899
HP:0001339	Lissencephaly	10381	TUBB3	OMIM:614039
HP:0001339	Lissencephaly	10381	TUBB3	ORPHA:300570
HP:0001339	Lissencephaly	100506658	OCLN	OMIM:251290
HP:0001339	Lissencephaly	5048	PAFAH1B1	OMIM:607432
HP:0001339	Lissencephaly	5048	PAFAH1B1	ORPHA:531
HP:0001339	Lissencephaly	388015	RTL1	ORPHA:96334
HP:0001339	Lissencephaly	8788	DLK1	ORPHA:96334
HP:0001339	Lissencephaly	55384	MEG3	ORPHA:96334
HP:0001339	Lissencephaly	7846	TUBA1A	OMIM:611603
HP:0001339	Lissencephaly	7846	TUBA1A	ORPHA:171680
HP:0001339	Lissencephaly	3908	LAMA2	ORPHA:258
HP:0001339	Lissencephaly	84892	POMGNT2	ORPHA:899
HP:0001339	Lissencephaly	148789	B3GALNT2	ORPHA:899
HP:0001339	Lissencephaly	79147	FKRP	ORPHA:899
HP:0001339	Lissencephaly	79147	FKRP	OMIM:613153
HP:0001339	Lissencephaly	29954	POMT2	ORPHA:899
HP:0001339	Lissencephaly	9215	LARGE1	ORPHA:899
HP:0001339	Lissencephaly	1282	COL4A1	ORPHA:899
HP:0001339	Lissencephaly	729920	CRPPA	ORPHA:899
HP:0001339	Lissencephaly	729920	CRPPA	OMIM:614643
HP:0001339	Lissencephaly	10329	RXYLT1	ORPHA:899
HP:0001339	Lissencephaly	1605	DAG1	ORPHA:899
HP:0001339	Lissencephaly	11041	B4GAT1	ORPHA:899
HP:0001339	Lissencephaly	10585	POMT1	ORPHA:899
HP:0001339	Lissencephaly	55624	POMGNT1	ORPHA:899
HP:0001339	Lissencephaly	79068	FTO	OMIM:612938
HP:0001339	Lissencephaly	2271	FH	OMIM:606812
HP:0001339	Lissencephaly	284403	WDR62	OMIM:604317
HP:0001339	Lissencephaly	3090	HIC1	ORPHA:531
HP:0001339	Lissencephaly	7531	YWHAE	ORPHA:531
HP:0001339	Lissencephaly	170302	ARX	OMIM:300215
HP:0001339	Lissencephaly	23545	ATP6V0A2	ORPHA:357074
HP:0001339	Lissencephaly	523	ATP6V1A	ORPHA:357074
HP:0001339	Lissencephaly	529	ATP6V1E1	ORPHA:357074
HP:0001339	Lissencephaly	1020	CDK5	OMIM:616342
HP:0001339	Lissencephaly	3796	KIF2A	OMIM:615411
HP:0001339	Lissencephaly	5194	PEX13	OMIM:614883
HP:0001339	Lissencephaly	23499	MACF1	OMIM:618325
HP:0001339	Lissencephaly	8777	MPDZ	OMIM:615219
HP:0001339	Lissencephaly	412	STS	ORPHA:281090
HP:0001339	Lissencephaly	22930	RAB3GAP1	ORPHA:2510
HP:0001339	Lissencephaly	25782	RAB3GAP2	ORPHA:2510
HP:0001339	Lissencephaly	22931	RAB18	ORPHA:2510
HP:0001339	Lissencephaly	128637	TBC1D20	ORPHA:2510
HP:0001339	Lissencephaly	29968	PSAT1	ORPHA:284417
HP:0001339	Lissencephaly	29968	PSAT1	OMIM:616038
HP:0001339	Lissencephaly	1641	DCX	OMIM:300067
HP:0001339	Lissencephaly	26276	VPS33B	OMIM:208085
HP:0001339	Lissencephaly	7161	TP73	OMIM:619466
HP:0001339	Lissencephaly	51075	TMX2	OMIM:618730
HP:0001339	Lissencephaly	8738	CRADD	OMIM:614499
HP:0001339	Lissencephaly	55367	PIDD1	OMIM:619827
HP:0001339	Lissencephaly	54820	NDE1	OMIM:614019
HP:0001339	Lissencephaly	63894	VIPAS39	OMIM:613404
HP:0001339	Lissencephaly	26834	RNU4-2	OMIM:620851
HP:0001339	Lissencephaly	55644	OSGEP	OMIM:617729
HP:0001339	Lissencephaly	60386	SLC25A19	ORPHA:99742
HP:0001339	Lissencephaly	26227	PHGDH	OMIM:256520
HP:0001339	Lissencephaly	3912	LAMB1	OMIM:615191
HP:0001339	Lissencephaly	3912	LAMB1	ORPHA:352682
HP:0001339	Lissencephaly	29925	GMPPB	ORPHA:370959
HP:0001339	Lissencephaly	160418	TMTC3	OMIM:617255
HP:0001339	Lissencephaly	9289	ADGRG1	ORPHA:98889
HP:0001339	Lissencephaly	5297	PI4KA	ORPHA:98889
HP:0001339	Lissencephaly	27286	SRPX2	ORPHA:98889
HP:0001339	Lissencephaly	2009	EML1	OMIM:600348
HP:0001339	Lissencephaly	203068	TUBB	OMIM:615771
HP:0002538	Abnormal cerebral cortex morphology	2879	GPX4	ORPHA:93317
HP:0002538	Abnormal cerebral cortex morphology	23417	MLYCD	OMIM:248360
HP:0002538	Abnormal cerebral cortex morphology	84942	WDR73	OMIM:251300
HP:0002538	Abnormal cerebral cortex morphology	84942	WDR73	ORPHA:2065
HP:0002538	Abnormal cerebral cortex morphology	11267	SNF8	OMIM:620783
HP:0002538	Abnormal cerebral cortex morphology	80232	WDR26	ORPHA:513456
HP:0002538	Abnormal cerebral cortex morphology	387119	CEP85L	OMIM:618873
HP:0002538	Abnormal cerebral cortex morphology	387119	CEP85L	ORPHA:572013
HP:0002538	Abnormal cerebral cortex morphology	8312	AXIN1	OMIM:620558
HP:0002538	Abnormal cerebral cortex morphology	4784	NFIX	OMIM:602535
HP:0002538	Abnormal cerebral cortex morphology	23522	KAT6B	OMIM:606170
HP:0002538	Abnormal cerebral cortex morphology	10716	TBR1	OMIM:606053
HP:0002538	Abnormal cerebral cortex morphology	5354	PLP1	ORPHA:280210
HP:0002538	Abnormal cerebral cortex morphology	545	ATR	OMIM:210600
HP:0002538	Abnormal cerebral cortex morphology	2313	FLI1	ORPHA:2308
HP:0002538	Abnormal cerebral cortex morphology	81689	ISCA1	OMIM:617613
HP:0002538	Abnormal cerebral cortex morphology	9508	ADAMTS3	ORPHA:2136
HP:0002538	Abnormal cerebral cortex morphology	147372	CCBE1	ORPHA:2136
HP:0002538	Abnormal cerebral cortex morphology	147372	CCBE1	OMIM:235510
HP:0002538	Abnormal cerebral cortex morphology	79633	FAT4	ORPHA:2136
HP:0002538	Abnormal cerebral cortex morphology	51002	TPRKB	OMIM:617731
HP:0002538	Abnormal cerebral cortex morphology	51002	TPRKB	ORPHA:2065
HP:0002538	Abnormal cerebral cortex morphology	5162	PDHB	ORPHA:255138
HP:0002538	Abnormal cerebral cortex morphology	4677	NARS1	OMIM:619091
HP:0002538	Abnormal cerebral cortex morphology	10463	SLC30A9	OMIM:617595
HP:0002538	Abnormal cerebral cortex morphology	79087	ALG12	ORPHA:79324
HP:0002538	Abnormal cerebral cortex morphology	84978	FRMD5	OMIM:620094
HP:0002538	Abnormal cerebral cortex morphology	1496	CTNNA2	OMIM:618174
HP:0002538	Abnormal cerebral cortex morphology	10844	TUBGCP2	OMIM:618737
HP:0002538	Abnormal cerebral cortex morphology	57122	NUP107	ORPHA:2065
HP:0002538	Abnormal cerebral cortex morphology	10785	WDR4	ORPHA:2065
HP:0002538	Abnormal cerebral cortex morphology	835	CASP2	OMIM:620653
HP:0002538	Abnormal cerebral cortex morphology	6792	CDKL5	ORPHA:1934
HP:0002538	Abnormal cerebral cortex morphology	3736	KCNA1	ORPHA:1934
HP:0002538	Abnormal cerebral cortex morphology	9091	PIGQ	ORPHA:1934
HP:0002538	Abnormal cerebral cortex morphology	140679	SLC32A1	ORPHA:1934
HP:0002538	Abnormal cerebral cortex morphology	2775	GNAO1	ORPHA:1934
HP:0002538	Abnormal cerebral cortex morphology	79751	SLC25A22	ORPHA:1934
HP:0002538	Abnormal cerebral cortex morphology	150094	SIK1	ORPHA:1934
HP:0002538	Abnormal cerebral cortex morphology	23312	DMXL2	ORPHA:1934
HP:0002538	Abnormal cerebral cortex morphology	51227	PIGP	ORPHA:1934
HP:0002538	Abnormal cerebral cortex morphology	4761	NEUROD2	ORPHA:1934
HP:0002538	Abnormal cerebral cortex morphology	2110	ETFDH	OMIM:231680
HP:0002538	Abnormal cerebral cortex morphology	2108	ETFA	OMIM:231680
HP:0002538	Abnormal cerebral cortex morphology	2109	ETFB	OMIM:231680
HP:0002538	Abnormal cerebral cortex morphology	348180	CTU2	OMIM:618142
HP:0002538	Abnormal cerebral cortex morphology	10300	KATNB1	OMIM:616212
HP:0002538	Abnormal cerebral cortex morphology	84162	BLTP1	OMIM:617822
HP:0002538	Abnormal cerebral cortex morphology	55704	CCDC88A	OMIM:617507
HP:0002538	Abnormal cerebral cortex morphology	157922	CAMSAP1	OMIM:620316
HP:0002538	Abnormal cerebral cortex morphology	388015	RTL1	ORPHA:96334
HP:0002538	Abnormal cerebral cortex morphology	8788	DLK1	ORPHA:96334
HP:0002538	Abnormal cerebral cortex morphology	55384	MEG3	ORPHA:96334
HP:0002538	Abnormal cerebral cortex morphology	7846	TUBA1A	OMIM:611603
HP:0002538	Abnormal cerebral cortex morphology	7846	TUBA1A	ORPHA:171680
HP:0002538	Abnormal cerebral cortex morphology	79068	FTO	OMIM:612938
HP:0002538	Abnormal cerebral cortex morphology	1020	CDK5	OMIM:616342
HP:0002538	Abnormal cerebral cortex morphology	5194	PEX13	OMIM:614883
HP:0002538	Abnormal cerebral cortex morphology	23499	MACF1	OMIM:618325
HP:0002538	Abnormal cerebral cortex morphology	8777	MPDZ	OMIM:615219
HP:0002538	Abnormal cerebral cortex morphology	412	STS	ORPHA:281090
HP:0002538	Abnormal cerebral cortex morphology	29968	PSAT1	ORPHA:284417
HP:0002538	Abnormal cerebral cortex morphology	29968	PSAT1	OMIM:616038
HP:0002538	Abnormal cerebral cortex morphology	1641	DCX	OMIM:300067
HP:0002538	Abnormal cerebral cortex morphology	26276	VPS33B	OMIM:208085
HP:0002538	Abnormal cerebral cortex morphology	7161	TP73	OMIM:619466
HP:0002538	Abnormal cerebral cortex morphology	51075	TMX2	OMIM:618730
HP:0002538	Abnormal cerebral cortex morphology	8738	CRADD	OMIM:614499
HP:0002538	Abnormal cerebral cortex morphology	55367	PIDD1	OMIM:619827
HP:0002538	Abnormal cerebral cortex morphology	63894	VIPAS39	OMIM:613404
HP:0002538	Abnormal cerebral cortex morphology	55644	OSGEP	OMIM:617729
HP:0002538	Abnormal cerebral cortex morphology	60386	SLC25A19	ORPHA:99742
HP:0002538	Abnormal cerebral cortex morphology	25792	CIZ1	ORPHA:420492
HP:0002538	Abnormal cerebral cortex morphology	4702	NDUFA8	OMIM:619272
HP:0002538	Abnormal cerebral cortex morphology	773	CACNA1A	OMIM:183086
HP:0002538	Abnormal cerebral cortex morphology	1183	CLCN4	OMIM:300114
HP:0002538	Abnormal cerebral cortex morphology	1183	CLCN4	ORPHA:485350
HP:0002538	Abnormal cerebral cortex morphology	5393	EXOSC9	OMIM:618065
HP:0002538	Abnormal cerebral cortex morphology	5393	EXOSC9	ORPHA:2254
HP:0002538	Abnormal cerebral cortex morphology	23556	PIGN	ORPHA:2059
HP:0002538	Abnormal cerebral cortex morphology	400916	CHCHD10	OMIM:615911
HP:0002538	Abnormal cerebral cortex morphology	673	BRAF	OMIM:115150
HP:0002538	Abnormal cerebral cortex morphology	673	BRAF	ORPHA:1340
HP:0002538	Abnormal cerebral cortex morphology	54820	NDE1	ORPHA:2177
HP:0002538	Abnormal cerebral cortex morphology	7360	UGP2	OMIM:618744
HP:0002538	Abnormal cerebral cortex morphology	145173	B3GLCT	ORPHA:709
HP:0002538	Abnormal cerebral cortex morphology	5457	POU4F1	ORPHA:314647
HP:0002538	Abnormal cerebral cortex morphology	23261	CAMTA1	ORPHA:314647
HP:0002538	Abnormal cerebral cortex morphology	23261	CAMTA1	OMIM:614756
HP:0002538	Abnormal cerebral cortex morphology	10667	FARS2	OMIM:614946
HP:0002538	Abnormal cerebral cortex morphology	8496	PPFIBP1	OMIM:620024
HP:0002538	Abnormal cerebral cortex morphology	51816	ADA2	ORPHA:820
HP:0002538	Abnormal cerebral cortex morphology	23126	POGZ	ORPHA:468678
HP:0002538	Abnormal cerebral cortex morphology	5521	PPP2R2B	OMIM:604326
HP:0002538	Abnormal cerebral cortex morphology	6687	SPG7	ORPHA:99013
HP:0002538	Abnormal cerebral cortex morphology	6687	SPG7	OMIM:607259
HP:0002538	Abnormal cerebral cortex morphology	4552	MTRR	OMIM:236270
HP:0002538	Abnormal cerebral cortex morphology	54209	TREM2	OMIM:618193
HP:0002538	Abnormal cerebral cortex morphology	54209	TREM2	ORPHA:1020
HP:0002538	Abnormal cerebral cortex morphology	54209	TREM2	ORPHA:2770
HP:0002538	Abnormal cerebral cortex morphology	4125	MAN2B1	ORPHA:309282
HP:0002538	Abnormal cerebral cortex morphology	4125	MAN2B1	ORPHA:309288
HP:0002538	Abnormal cerebral cortex morphology	4125	MAN2B1	OMIM:248500
HP:0002538	Abnormal cerebral cortex morphology	51112	TRAPPC12	ORPHA:500144
HP:0002538	Abnormal cerebral cortex morphology	51112	TRAPPC12	OMIM:617669
HP:0002538	Abnormal cerebral cortex morphology	54968	TMEM70	ORPHA:1194
HP:0002538	Abnormal cerebral cortex morphology	3020	H3-3A	OMIM:619720
HP:0002538	Abnormal cerebral cortex morphology	8722	CTSF	OMIM:615362
HP:0002538	Abnormal cerebral cortex morphology	387787	LIPT2	OMIM:617668
HP:0002538	Abnormal cerebral cortex morphology	84520	GON7	OMIM:619603
HP:0002538	Abnormal cerebral cortex morphology	23431	AP4E1	OMIM:613744
HP:0002538	Abnormal cerebral cortex morphology	23431	AP4E1	ORPHA:280763
HP:0002538	Abnormal cerebral cortex morphology	57582	KCNT1	OMIM:614959
HP:0002538	Abnormal cerebral cortex morphology	79158	GNPTAB	OMIM:252500
HP:0002538	Abnormal cerebral cortex morphology	271	AMPD2	OMIM:615809
HP:0002538	Abnormal cerebral cortex morphology	5189	PEX1	OMIM:214100
HP:0002538	Abnormal cerebral cortex morphology	55650	PIGV	OMIM:239300
HP:0002538	Abnormal cerebral cortex morphology	2192	FBLN1	ORPHA:404451
HP:0002538	Abnormal cerebral cortex morphology	348	APOE	OMIM:607822
HP:0002538	Abnormal cerebral cortex morphology	5663	PSEN1	OMIM:607822
HP:0002538	Abnormal cerebral cortex morphology	5663	PSEN1	ORPHA:1020
HP:0002538	Abnormal cerebral cortex morphology	51360	MBTPS2	ORPHA:2273
HP:0002538	Abnormal cerebral cortex morphology	3074	HEXB	ORPHA:309155
HP:0002538	Abnormal cerebral cortex morphology	10134	BCAP31	ORPHA:369939
HP:0002538	Abnormal cerebral cortex morphology	5832	ALDH18A1	OMIM:616586
HP:0002538	Abnormal cerebral cortex morphology	5832	ALDH18A1	ORPHA:447760
HP:0002538	Abnormal cerebral cortex morphology	4509	MT-ATP8	ORPHA:254913
HP:0002538	Abnormal cerebral cortex morphology	514	ATP5F1E	ORPHA:254913
HP:0002538	Abnormal cerebral cortex morphology	513	ATP5F1D	ORPHA:254913
HP:0002538	Abnormal cerebral cortex morphology	498	ATP5F1A	ORPHA:254913
HP:0002538	Abnormal cerebral cortex morphology	4508	MT-ATP6	ORPHA:254913
HP:0002538	Abnormal cerebral cortex morphology	4508	MT-ATP6	ORPHA:644
HP:0002538	Abnormal cerebral cortex morphology	84833	ATP5MK	ORPHA:254913
HP:0002538	Abnormal cerebral cortex morphology	91647	ATPAF2	ORPHA:254913
HP:0002538	Abnormal cerebral cortex morphology	7343	UBTF	OMIM:617672
HP:0002538	Abnormal cerebral cortex morphology	91869	RFT1	ORPHA:244310
HP:0002538	Abnormal cerebral cortex morphology	9326	ZNHIT3	ORPHA:2836
HP:0002538	Abnormal cerebral cortex morphology	2260	FGFR1	ORPHA:2396
HP:0002538	Abnormal cerebral cortex morphology	3845	KRAS	ORPHA:2396
HP:0002538	Abnormal cerebral cortex morphology	3845	KRAS	ORPHA:1340
HP:0002538	Abnormal cerebral cortex morphology	6496	SIX3	OMIM:269160
HP:0002538	Abnormal cerebral cortex morphology	2018	EMX2	OMIM:269160
HP:0002538	Abnormal cerebral cortex morphology	546	ATRX	ORPHA:847
HP:0002538	Abnormal cerebral cortex morphology	5191	PEX7	OMIM:215100
HP:0002538	Abnormal cerebral cortex morphology	83480	PUS3	ORPHA:488627
HP:0002538	Abnormal cerebral cortex morphology	2332	FMR1	ORPHA:93256
HP:0002538	Abnormal cerebral cortex morphology	2332	FMR1	ORPHA:908
HP:0002538	Abnormal cerebral cortex morphology	23400	ATP13A2	ORPHA:513436
HP:0002538	Abnormal cerebral cortex morphology	23400	ATP13A2	ORPHA:306674
HP:0002538	Abnormal cerebral cortex morphology	23400	ATP13A2	OMIM:617225
HP:0002538	Abnormal cerebral cortex morphology	652	BMP4	OMIM:607932
HP:0002538	Abnormal cerebral cortex morphology	57231	SNX14	OMIM:616354
HP:0002538	Abnormal cerebral cortex morphology	132158	GLYCTK	OMIM:220120
HP:0002538	Abnormal cerebral cortex morphology	10347	ABCA7	OMIM:608907
HP:0002538	Abnormal cerebral cortex morphology	10347	ABCA7	ORPHA:1020
HP:0002538	Abnormal cerebral cortex morphology	246243	RNASEH1	OMIM:616479
HP:0002538	Abnormal cerebral cortex morphology	80208	SPG11	ORPHA:2822
HP:0002538	Abnormal cerebral cortex morphology	80208	SPG11	OMIM:604360
HP:0002538	Abnormal cerebral cortex morphology	51761	ATP8A2	OMIM:615268
HP:0002538	Abnormal cerebral cortex morphology	23230	VPS13A	ORPHA:2388
HP:0002538	Abnormal cerebral cortex morphology	4582	MUC1	OMIM:174000
HP:0002538	Abnormal cerebral cortex morphology	9487	PIGL	ORPHA:3474
HP:0002538	Abnormal cerebral cortex morphology	57338	JPH3	ORPHA:98934
HP:0002538	Abnormal cerebral cortex morphology	57338	JPH3	OMIM:606438
HP:0002538	Abnormal cerebral cortex morphology	23265	EXOC7	OMIM:619072
HP:0002538	Abnormal cerebral cortex morphology	699	BUB1	OMIM:620183
HP:0002538	Abnormal cerebral cortex morphology	1798	DPAGT1	ORPHA:86309
HP:0002538	Abnormal cerebral cortex morphology	3028	HSD17B10	OMIM:300438
HP:0002538	Abnormal cerebral cortex morphology	55699	IARS2	OMIM:616007
HP:0002538	Abnormal cerebral cortex morphology	54902	TTC19	OMIM:615157
HP:0002538	Abnormal cerebral cortex morphology	6804	STX1A	ORPHA:904
HP:0002538	Abnormal cerebral cortex morphology	7461	CLIP2	ORPHA:904
HP:0002538	Abnormal cerebral cortex morphology	84277	DNAJC30	ORPHA:904
HP:0002538	Abnormal cerebral cortex morphology	8468	FKBP6	ORPHA:904
HP:0002538	Abnormal cerebral cortex morphology	5982	RFC2	ORPHA:904
HP:0002538	Abnormal cerebral cortex morphology	2969	GTF2I	ORPHA:904
HP:0002538	Abnormal cerebral cortex morphology	3984	LIMK1	ORPHA:904
HP:0002538	Abnormal cerebral cortex morphology	9569	GTF2IRD1	ORPHA:904
HP:0002538	Abnormal cerebral cortex morphology	155382	VPS37D	ORPHA:904
HP:0002538	Abnormal cerebral cortex morphology	155368	METTL27	ORPHA:904
HP:0002538	Abnormal cerebral cortex morphology	114049	BUD23	ORPHA:904
HP:0002538	Abnormal cerebral cortex morphology	7458	EIF4H	ORPHA:904
HP:0002538	Abnormal cerebral cortex morphology	84163	GTF2IRD2	ORPHA:904
HP:0002538	Abnormal cerebral cortex morphology	26608	TBL2	ORPHA:904
HP:0002538	Abnormal cerebral cortex morphology	653361	NCF1	ORPHA:904
HP:0002538	Abnormal cerebral cortex morphology	135886	TMEM270	ORPHA:904
HP:0002538	Abnormal cerebral cortex morphology	9031	BAZ1B	ORPHA:904
HP:0002538	Abnormal cerebral cortex morphology	2006	ELN	ORPHA:904
HP:0002538	Abnormal cerebral cortex morphology	11340	EXOSC8	ORPHA:2254
HP:0002538	Abnormal cerebral cortex morphology	11340	EXOSC8	OMIM:616081
HP:0002538	Abnormal cerebral cortex morphology	23287	AGTPBP1	ORPHA:2254
HP:0002538	Abnormal cerebral cortex morphology	51010	EXOSC3	ORPHA:2254
HP:0002538	Abnormal cerebral cortex morphology	7443	VRK1	ORPHA:2254
HP:0002538	Abnormal cerebral cortex morphology	7443	VRK1	OMIM:607596
HP:0002538	Abnormal cerebral cortex morphology	91137	SLC25A46	ORPHA:2254
HP:0002538	Abnormal cerebral cortex morphology	4191	MDH2	OMIM:617339
HP:0002538	Abnormal cerebral cortex morphology	5590	PRKCZ	ORPHA:1606
HP:0002538	Abnormal cerebral cortex morphology	2563	GABRD	ORPHA:1606
HP:0002538	Abnormal cerebral cortex morphology	23013	SPEN	ORPHA:1606
HP:0002538	Abnormal cerebral cortex morphology	8510	MMP23B	ORPHA:1606
HP:0002538	Abnormal cerebral cortex morphology	7798	LUZP1	ORPHA:1606
HP:0002538	Abnormal cerebral cortex morphology	6497	SKI	ORPHA:1606
HP:0002538	Abnormal cerebral cortex morphology	10630	PDPN	ORPHA:1606
HP:0002538	Abnormal cerebral cortex morphology	3339	HSPG2	ORPHA:1606
HP:0002538	Abnormal cerebral cortex morphology	10277	UBE4B	ORPHA:1606
HP:0002538	Abnormal cerebral cortex morphology	8514	KCNAB2	ORPHA:1606
HP:0002538	Abnormal cerebral cortex morphology	473	RERE	ORPHA:1606
HP:0002538	Abnormal cerebral cortex morphology	63976	PRDM16	ORPHA:1606
HP:0002538	Abnormal cerebral cortex morphology	54897	CASZ1	ORPHA:1606
HP:0002538	Abnormal cerebral cortex morphology	493856	CISD2	ORPHA:3463
HP:0002538	Abnormal cerebral cortex morphology	7466	WFS1	ORPHA:3463
HP:0002538	Abnormal cerebral cortex morphology	7337	UBE3A	OMIM:105830
HP:0002538	Abnormal cerebral cortex morphology	6638	SNRPN	OMIM:105830
HP:0002538	Abnormal cerebral cortex morphology	6638	SNRPN	ORPHA:177907
HP:0002538	Abnormal cerebral cortex morphology	1859	DYRK1A	ORPHA:464311
HP:0002538	Abnormal cerebral cortex morphology	1859	DYRK1A	ORPHA:268261
HP:0002538	Abnormal cerebral cortex morphology	1859	DYRK1A	OMIM:614104
HP:0002538	Abnormal cerebral cortex morphology	80025	PANK2	OMIM:234200
HP:0002538	Abnormal cerebral cortex morphology	2896	GRN	OMIM:607485
HP:0002538	Abnormal cerebral cortex morphology	11128	POLR3A	ORPHA:447896
HP:0002538	Abnormal cerebral cortex morphology	11128	POLR3A	OMIM:607694
HP:0002538	Abnormal cerebral cortex morphology	55343	SLC35C1	OMIM:266265
HP:0002538	Abnormal cerebral cortex morphology	8517	IKBKG	ORPHA:464
HP:0002538	Abnormal cerebral cortex morphology	4644	MYO5A	ORPHA:33445
HP:0002538	Abnormal cerebral cortex morphology	51633	OTUD6B	ORPHA:505237
HP:0002538	Abnormal cerebral cortex morphology	4094	MAF	ORPHA:1272
HP:0002538	Abnormal cerebral cortex morphology	5621	PRNP	ORPHA:157941
HP:0002538	Abnormal cerebral cortex morphology	56098	PCDHGC4	OMIM:619880
HP:0002538	Abnormal cerebral cortex morphology	3708	ITPR1	OMIM:117360
HP:0002538	Abnormal cerebral cortex morphology	25973	PARS2	OMIM:618437
HP:0002538	Abnormal cerebral cortex morphology	54499	TMCO1	ORPHA:1394
HP:0002538	Abnormal cerebral cortex morphology	9562	MINPP1	OMIM:619527
HP:0002538	Abnormal cerebral cortex morphology	2558	GABRA5	OMIM:618559
HP:0002538	Abnormal cerebral cortex morphology	6311	ATXN2	ORPHA:98756
HP:0002538	Abnormal cerebral cortex morphology	56652	TWNK	OMIM:271245
HP:0002538	Abnormal cerebral cortex morphology	8573	CASK	ORPHA:163937
HP:0002538	Abnormal cerebral cortex morphology	22906	TRAK1	OMIM:618201
HP:0002538	Abnormal cerebral cortex morphology	54941	RNF125	OMIM:616260
HP:0002538	Abnormal cerebral cortex morphology	22930	RAB3GAP1	ORPHA:1387
HP:0002538	Abnormal cerebral cortex morphology	22930	RAB3GAP1	ORPHA:2510
HP:0002538	Abnormal cerebral cortex morphology	25782	RAB3GAP2	ORPHA:1387
HP:0002538	Abnormal cerebral cortex morphology	25782	RAB3GAP2	ORPHA:401830
HP:0002538	Abnormal cerebral cortex morphology	25782	RAB3GAP2	ORPHA:2510
HP:0002538	Abnormal cerebral cortex morphology	25836	NIPBL	OMIM:122470
HP:0002538	Abnormal cerebral cortex morphology	25836	NIPBL	ORPHA:199
HP:0002538	Abnormal cerebral cortex morphology	283989	TSEN54	OMIM:277470
HP:0002538	Abnormal cerebral cortex morphology	5664	PSEN2	ORPHA:1020
HP:0002538	Abnormal cerebral cortex morphology	10452	TOMM40	ORPHA:1020
HP:0002538	Abnormal cerebral cortex morphology	351	APP	ORPHA:1020
HP:0002538	Abnormal cerebral cortex morphology	6653	SORL1	ORPHA:1020
HP:0002538	Abnormal cerebral cortex morphology	64116	SLC39A8	ORPHA:468699
HP:0002538	Abnormal cerebral cortex morphology	404672	GTF2H5	ORPHA:33364
HP:0002538	Abnormal cerebral cortex morphology	833	CARS1	ORPHA:33364
HP:0002538	Abnormal cerebral cortex morphology	2068	ERCC2	ORPHA:33364
HP:0002538	Abnormal cerebral cortex morphology	2068	ERCC2	ORPHA:910
HP:0002538	Abnormal cerebral cortex morphology	2068	ERCC2	ORPHA:1466
HP:0002538	Abnormal cerebral cortex morphology	7737	RNF113A	ORPHA:33364
HP:0002538	Abnormal cerebral cortex morphology	136647	MPLKIP	ORPHA:33364
HP:0002538	Abnormal cerebral cortex morphology	136647	MPLKIP	OMIM:234050
HP:0002538	Abnormal cerebral cortex morphology	6897	TARS1	ORPHA:33364
HP:0002538	Abnormal cerebral cortex morphology	16	AARS1	ORPHA:33364
HP:0002538	Abnormal cerebral cortex morphology	2071	ERCC3	ORPHA:33364
HP:0002538	Abnormal cerebral cortex morphology	2071	ERCC3	ORPHA:910
HP:0002538	Abnormal cerebral cortex morphology	2961	GTF2E2	ORPHA:33364
HP:0002538	Abnormal cerebral cortex morphology	51750	RTEL1	ORPHA:3322
HP:0002538	Abnormal cerebral cortex morphology	65057	ACD	ORPHA:3322
HP:0002538	Abnormal cerebral cortex morphology	5073	PARN	ORPHA:3322
HP:0002538	Abnormal cerebral cortex morphology	7015	TERT	ORPHA:3322
HP:0002538	Abnormal cerebral cortex morphology	26277	TINF2	ORPHA:3322
HP:0002538	Abnormal cerebral cortex morphology	1736	DKC1	ORPHA:3322
HP:0002538	Abnormal cerebral cortex morphology	79053	ALG8	ORPHA:79325
HP:0002538	Abnormal cerebral cortex morphology	2776	GNAQ	ORPHA:3205
HP:0002538	Abnormal cerebral cortex morphology	2776	GNAQ	OMIM:185300
HP:0002538	Abnormal cerebral cortex morphology	8295	TRRAP	OMIM:618454
HP:0002538	Abnormal cerebral cortex morphology	58497	PRUNE1	OMIM:617481
HP:0002538	Abnormal cerebral cortex morphology	2583	B4GALNT1	OMIM:609195
HP:0002538	Abnormal cerebral cortex morphology	2583	B4GALNT1	ORPHA:101006
HP:0002538	Abnormal cerebral cortex morphology	11232	POLG2	OMIM:619425
HP:0002538	Abnormal cerebral cortex morphology	7407	VARS1	OMIM:617802
HP:0002538	Abnormal cerebral cortex morphology	57724	EPG5	ORPHA:1493
HP:0002538	Abnormal cerebral cortex morphology	4204	MECP2	OMIM:312750
HP:0002538	Abnormal cerebral cortex morphology	81603	TRIM8	OMIM:619428
HP:0002538	Abnormal cerebral cortex morphology	7507	XPA	ORPHA:910
HP:0002538	Abnormal cerebral cortex morphology	7508	XPC	ORPHA:910
HP:0002538	Abnormal cerebral cortex morphology	1643	DDB2	ORPHA:910
HP:0002538	Abnormal cerebral cortex morphology	2072	ERCC4	ORPHA:910
HP:0002538	Abnormal cerebral cortex morphology	2073	ERCC5	ORPHA:910
HP:0002538	Abnormal cerebral cortex morphology	2073	ERCC5	ORPHA:1466
HP:0002538	Abnormal cerebral cortex morphology	55703	POLR3B	OMIM:607694
HP:0002538	Abnormal cerebral cortex morphology	4558	MT-TF	ORPHA:550
HP:0002538	Abnormal cerebral cortex morphology	4572	MT-TQ	ORPHA:550
HP:0002538	Abnormal cerebral cortex morphology	4512	MT-CO1	ORPHA:550
HP:0002538	Abnormal cerebral cortex morphology	4513	MT-CO2	ORPHA:550
HP:0002538	Abnormal cerebral cortex morphology	4514	MT-CO3	ORPHA:550
HP:0002538	Abnormal cerebral cortex morphology	4578	MT-TW	ORPHA:550
HP:0002538	Abnormal cerebral cortex morphology	4540	MT-ND5	ORPHA:550
HP:0002538	Abnormal cerebral cortex morphology	4541	MT-ND6	ORPHA:550
HP:0002538	Abnormal cerebral cortex morphology	4535	MT-ND1	ORPHA:550
HP:0002538	Abnormal cerebral cortex morphology	4538	MT-ND4	ORPHA:550
HP:0002538	Abnormal cerebral cortex morphology	4567	MT-TL1	ORPHA:550
HP:0002538	Abnormal cerebral cortex morphology	4574	MT-TS1	ORPHA:550
HP:0002538	Abnormal cerebral cortex morphology	4575	MT-TS2	ORPHA:550
HP:0002538	Abnormal cerebral cortex morphology	4564	MT-TH	ORPHA:550
HP:0002538	Abnormal cerebral cortex morphology	27238	GPKOW	ORPHA:2570
HP:0002538	Abnormal cerebral cortex morphology	8925	HERC1	OMIM:617011
HP:0002538	Abnormal cerebral cortex morphology	8925	HERC1	ORPHA:457359
HP:0002538	Abnormal cerebral cortex morphology	92935	MARS2	OMIM:611390
HP:0002538	Abnormal cerebral cortex morphology	92935	MARS2	ORPHA:314603
HP:0002538	Abnormal cerebral cortex morphology	4598	MVK	ORPHA:29
HP:0002538	Abnormal cerebral cortex morphology	54832	VPS13C	OMIM:616840
HP:0002538	Abnormal cerebral cortex morphology	55746	NUP133	OMIM:618349
HP:0002538	Abnormal cerebral cortex morphology	79813	EHMT1	ORPHA:96147
HP:0002538	Abnormal cerebral cortex morphology	57679	ALS2	OMIM:606353
HP:0002538	Abnormal cerebral cortex morphology	27249	MMADHC	OMIM:277410
HP:0002538	Abnormal cerebral cortex morphology	55630	SLC39A4	ORPHA:37
HP:0002538	Abnormal cerebral cortex morphology	116461	TSEN15	OMIM:617026
HP:0002538	Abnormal cerebral cortex morphology	2902	GRIN1	OMIM:617820
HP:0002538	Abnormal cerebral cortex morphology	8085	KMT2D	ORPHA:2322
HP:0002538	Abnormal cerebral cortex morphology	7403	KDM6A	ORPHA:2322
HP:0002538	Abnormal cerebral cortex morphology	998	CDC42	OMIM:616737
HP:0002538	Abnormal cerebral cortex morphology	50	ACO2	OMIM:614559
HP:0002538	Abnormal cerebral cortex morphology	8890	EIF2B4	OMIM:620314
HP:0002538	Abnormal cerebral cortex morphology	10166	SLC25A15	ORPHA:415
HP:0002538	Abnormal cerebral cortex morphology	10166	SLC25A15	OMIM:238970
HP:0002538	Abnormal cerebral cortex morphology	6904	TBCD	ORPHA:496641
HP:0002538	Abnormal cerebral cortex morphology	29925	GMPPB	ORPHA:370968
HP:0002538	Abnormal cerebral cortex morphology	79147	FKRP	ORPHA:370968
HP:0002538	Abnormal cerebral cortex morphology	29954	POMT2	ORPHA:370968
HP:0002538	Abnormal cerebral cortex morphology	29954	POMT2	OMIM:613156
HP:0002538	Abnormal cerebral cortex morphology	9215	LARGE1	ORPHA:370968
HP:0002538	Abnormal cerebral cortex morphology	10585	POMT1	ORPHA:370968
HP:0002538	Abnormal cerebral cortex morphology	56915	EXOSC5	OMIM:619576
HP:0002538	Abnormal cerebral cortex morphology	23221	RHOBTB2	OMIM:618004
HP:0002538	Abnormal cerebral cortex morphology	8867	SYNJ1	OMIM:615530
HP:0002538	Abnormal cerebral cortex morphology	6928	HNF1B	OMIM:137920
HP:0002538	Abnormal cerebral cortex morphology	166378	AFG2A	ORPHA:457351
HP:0002538	Abnormal cerebral cortex morphology	2067	ERCC1	ORPHA:1466
HP:0002538	Abnormal cerebral cortex morphology	2074	ERCC6	ORPHA:1466
HP:0002538	Abnormal cerebral cortex morphology	6709	SPTAN1	OMIM:613477
HP:0002538	Abnormal cerebral cortex morphology	54834	GDAP2	OMIM:618369
HP:0002538	Abnormal cerebral cortex morphology	400569	MED11	OMIM:620327
HP:0002538	Abnormal cerebral cortex morphology	2629	GBA1	ORPHA:411602
HP:0002538	Abnormal cerebral cortex morphology	23317	DNAJC13	ORPHA:411602
HP:0002538	Abnormal cerebral cortex morphology	1981	EIF4G1	ORPHA:411602
HP:0002538	Abnormal cerebral cortex morphology	55737	VPS35	ORPHA:411602
HP:0002538	Abnormal cerebral cortex morphology	120892	LRRK2	ORPHA:411602
HP:0002538	Abnormal cerebral cortex morphology	26058	GIGYF2	ORPHA:411602
HP:0002538	Abnormal cerebral cortex morphology	6622	SNCA	ORPHA:411602
HP:0002538	Abnormal cerebral cortex morphology	5604	MAP2K1	ORPHA:1340
HP:0002538	Abnormal cerebral cortex morphology	5605	MAP2K2	ORPHA:1340
HP:0002538	Abnormal cerebral cortex morphology	51608	GET4	OMIM:620200
HP:0002538	Abnormal cerebral cortex morphology	100506658	OCLN	ORPHA:1229
HP:0002538	Abnormal cerebral cortex morphology	3265	HRAS	ORPHA:3071
HP:0002538	Abnormal cerebral cortex morphology	9758	FRMPD4	OMIM:300983
HP:0002538	Abnormal cerebral cortex morphology	5277	PIGA	OMIM:300868
HP:0002538	Abnormal cerebral cortex morphology	83696	TRAPPC9	ORPHA:352530
HP:0002538	Abnormal cerebral cortex morphology	128637	TBC1D20	OMIM:615663
HP:0002538	Abnormal cerebral cortex morphology	128637	TBC1D20	ORPHA:2510
HP:0002538	Abnormal cerebral cortex morphology	26040	SETBP1	ORPHA:798
HP:0002538	Abnormal cerebral cortex morphology	23476	BRD4	ORPHA:199
HP:0002538	Abnormal cerebral cortex morphology	9126	SMC3	ORPHA:199
HP:0002538	Abnormal cerebral cortex morphology	8243	SMC1A	ORPHA:199
HP:0002538	Abnormal cerebral cortex morphology	6878	TAF6	ORPHA:199
HP:0002538	Abnormal cerebral cortex morphology	55869	HDAC8	ORPHA:199
HP:0002538	Abnormal cerebral cortex morphology	5885	RAD21	ORPHA:199
HP:0002538	Abnormal cerebral cortex morphology	9997	SCO2	OMIM:604377
HP:0002538	Abnormal cerebral cortex morphology	9791	PTDSS1	OMIM:151050
HP:0002538	Abnormal cerebral cortex morphology	7399	USH2A	ORPHA:231178
HP:0002538	Abnormal cerebral cortex morphology	79955	PDZD7	ORPHA:231178
HP:0002538	Abnormal cerebral cortex morphology	4647	MYO7A	ORPHA:231178
HP:0002538	Abnormal cerebral cortex morphology	4647	MYO7A	ORPHA:231169
HP:0002538	Abnormal cerebral cortex morphology	25861	WHRN	ORPHA:231178
HP:0002538	Abnormal cerebral cortex morphology	84059	ADGRV1	ORPHA:231178
HP:0002538	Abnormal cerebral cortex morphology	6197	RPS6KA3	ORPHA:192
HP:0002538	Abnormal cerebral cortex morphology	9150	CTDP1	ORPHA:48431
HP:0002538	Abnormal cerebral cortex morphology	94005	PIGS	OMIM:618143
HP:0002538	Abnormal cerebral cortex morphology	22866	CNKSR2	OMIM:301008
HP:0002538	Abnormal cerebral cortex morphology	10815	CPLX1	OMIM:617976
HP:0002538	Abnormal cerebral cortex morphology	22931	RAB18	OMIM:614222
HP:0002538	Abnormal cerebral cortex morphology	22931	RAB18	ORPHA:2510
HP:0002538	Abnormal cerebral cortex morphology	10283	CWC27	OMIM:250410
HP:0002538	Abnormal cerebral cortex morphology	10283	CWC27	ORPHA:166035
HP:0002538	Abnormal cerebral cortex morphology	7305	TYROBP	ORPHA:2770
HP:0002538	Abnormal cerebral cortex morphology	8905	AP1S2	ORPHA:1568
HP:0002538	Abnormal cerebral cortex morphology	80055	PGAP1	ORPHA:401820
HP:0002538	Abnormal cerebral cortex morphology	60558	GUF1	OMIM:617065
HP:0002538	Abnormal cerebral cortex morphology	122553	TRAPPC6B	OMIM:617862
HP:0002538	Abnormal cerebral cortex morphology	57688	ZSWIM6	OMIM:617865
HP:0002538	Abnormal cerebral cortex morphology	2893	GRIA4	OMIM:617864
HP:0002538	Abnormal cerebral cortex morphology	79152	FA2H	ORPHA:171629
HP:0002538	Abnormal cerebral cortex morphology	57038	RARS2	OMIM:611523
HP:0002538	Abnormal cerebral cortex morphology	55164	SHQ1	OMIM:619922
HP:0002538	Abnormal cerebral cortex morphology	57704	GBA2	ORPHA:320391
HP:0002538	Abnormal cerebral cortex morphology	6785	ELOVL4	OMIM:133190
HP:0002538	Abnormal cerebral cortex morphology	3090	HIC1	ORPHA:531
HP:0002538	Abnormal cerebral cortex morphology	5048	PAFAH1B1	ORPHA:531
HP:0002538	Abnormal cerebral cortex morphology	7531	YWHAE	ORPHA:531
HP:0002538	Abnormal cerebral cortex morphology	10717	AP4B1	ORPHA:280763
HP:0002538	Abnormal cerebral cortex morphology	9179	AP4M1	ORPHA:280763
HP:0002538	Abnormal cerebral cortex morphology	11154	AP4S1	ORPHA:280763
HP:0002538	Abnormal cerebral cortex morphology	95	ACY1	OMIM:609924
HP:0002538	Abnormal cerebral cortex morphology	25978	CHMP2B	OMIM:600795
HP:0002538	Abnormal cerebral cortex morphology	1716	DGUOK	OMIM:617070
HP:0002538	Abnormal cerebral cortex morphology	340533	NEXMIF	ORPHA:85277
HP:0002538	Abnormal cerebral cortex morphology	29920	PYCR2	OMIM:616420
HP:0002538	Abnormal cerebral cortex morphology	10479	SLC9A6	ORPHA:85278
HP:0002538	Abnormal cerebral cortex morphology	777	CACNA1E	OMIM:618285
HP:0002538	Abnormal cerebral cortex morphology	1203	CLN5	OMIM:256731
HP:0002538	Abnormal cerebral cortex morphology	85378	TUBGCP6	ORPHA:2518
HP:0002538	Abnormal cerebral cortex morphology	27229	TUBGCP4	ORPHA:2518
HP:0002538	Abnormal cerebral cortex morphology	10733	PLK4	ORPHA:2518
HP:0002538	Abnormal cerebral cortex morphology	55005	RMND1	OMIM:614922
HP:0002538	Abnormal cerebral cortex morphology	4693	NDP	ORPHA:649
HP:0002538	Abnormal cerebral cortex morphology	26123	TCTN3	ORPHA:2753
HP:0002538	Abnormal cerebral cortex morphology	71	ACTG1	ORPHA:2995
HP:0002538	Abnormal cerebral cortex morphology	60	ACTB	ORPHA:2995
HP:0002538	Abnormal cerebral cortex morphology	2801	GOLGA2	OMIM:620240
HP:0002538	Abnormal cerebral cortex morphology	23299	BICD2	OMIM:618291
HP:0002538	Abnormal cerebral cortex morphology	64072	CDH23	ORPHA:231169
HP:0002538	Abnormal cerebral cortex morphology	10083	USH1C	ORPHA:231169
HP:0002538	Abnormal cerebral cortex morphology	124590	USH1G	ORPHA:231169
HP:0002538	Abnormal cerebral cortex morphology	83715	ESPN	ORPHA:231169
HP:0002538	Abnormal cerebral cortex morphology	10518	CIB2	ORPHA:231169
HP:0002538	Abnormal cerebral cortex morphology	65217	PCDH15	ORPHA:231169
HP:0002538	Abnormal cerebral cortex morphology	116150	NUS1	OMIM:617082
HP:0002538	Abnormal cerebral cortex morphology	23404	EXOSC2	OMIM:617763
HP:0002538	Abnormal cerebral cortex morphology	79587	CARS2	OMIM:616672
HP:0002538	Abnormal cerebral cortex morphology	221692	PHACTR1	OMIM:618298
HP:0002538	Abnormal cerebral cortex morphology	4858	NOVA2	OMIM:618859
HP:0002538	Abnormal cerebral cortex morphology	29110	TBK1	OMIM:616439
HP:0002538	Abnormal cerebral cortex morphology	9373	PLAA	OMIM:617527
HP:0002538	Abnormal cerebral cortex morphology	170302	ARX	ORPHA:2508
HP:0002538	Abnormal cerebral cortex morphology	8878	SQSTM1	OMIM:616437
HP:0002538	Abnormal cerebral cortex morphology	5052	PRDX1	OMIM:277400
HP:0002538	Abnormal cerebral cortex morphology	25974	MMACHC	OMIM:277400
HP:0002538	Abnormal cerebral cortex morphology	267010	RNU12	ORPHA:512260
HP:0002538	Abnormal cerebral cortex morphology	27183	VPS4A	OMIM:619273
HP:0002538	Abnormal cerebral cortex morphology	9488	PIGB	OMIM:618580
HP:0002538	Abnormal cerebral cortex morphology	29899	GPSM2	OMIM:604213
HP:0002538	Abnormal cerebral cortex morphology	26235	FBXL4	OMIM:615471
HP:0002538	Abnormal cerebral cortex morphology	10262	SF3B4	OMIM:154400
HP:0002538	Abnormal cerebral cortex morphology	894	CCND2	ORPHA:83473
HP:0002538	Abnormal cerebral cortex morphology	894	CCND2	OMIM:615938
HP:0002538	Abnormal cerebral cortex morphology	5296	PIK3R2	ORPHA:83473
HP:0002538	Abnormal cerebral cortex morphology	5296	PIK3R2	OMIM:603387
HP:0002538	Abnormal cerebral cortex morphology	10000	AKT3	ORPHA:83473
HP:0002538	Abnormal cerebral cortex morphology	10000	AKT3	ORPHA:99802
HP:0002538	Abnormal cerebral cortex morphology	10000	AKT3	OMIM:615937
HP:0002538	Abnormal cerebral cortex morphology	160418	TMTC3	OMIM:617255
HP:0002538	Abnormal cerebral cortex morphology	26128	KIFBP	OMIM:609460
HP:0002538	Abnormal cerebral cortex morphology	55605	KIF21A	ORPHA:45358
HP:0002538	Abnormal cerebral cortex morphology	401	PHOX2A	ORPHA:45358
HP:0002538	Abnormal cerebral cortex morphology	84570	COL25A1	ORPHA:45358
HP:0002538	Abnormal cerebral cortex morphology	51807	TUBA8	ORPHA:250972
HP:0002538	Abnormal cerebral cortex morphology	6091	ROBO1	OMIM:620305
HP:0002538	Abnormal cerebral cortex morphology	79903	NAA60	OMIM:620786
HP:0002538	Abnormal cerebral cortex morphology	6328	SCN3A	OMIM:617938
HP:0002538	Abnormal cerebral cortex morphology	2782	GNB1	ORPHA:488613
HP:0002538	Abnormal cerebral cortex morphology	2782	GNB1	OMIM:616973
HP:0002538	Abnormal cerebral cortex morphology	23322	RPGRIP1L	ORPHA:220497
HP:0002538	Abnormal cerebral cortex morphology	4867	NPHP1	ORPHA:220497
HP:0002538	Abnormal cerebral cortex morphology	65062	TMEM237	ORPHA:220497
HP:0002538	Abnormal cerebral cortex morphology	65062	TMEM237	ORPHA:475
HP:0002538	Abnormal cerebral cortex morphology	54931	TRMT10C	OMIM:616974
HP:0002538	Abnormal cerebral cortex morphology	79644	SRD5A3	OMIM:612379
HP:0002538	Abnormal cerebral cortex morphology	54806	AHI1	ORPHA:220493
HP:0002538	Abnormal cerebral cortex morphology	54806	AHI1	ORPHA:475
HP:0002538	Abnormal cerebral cortex morphology	56623	INPP5E	ORPHA:220493
HP:0002538	Abnormal cerebral cortex morphology	56623	INPP5E	ORPHA:475
HP:0002538	Abnormal cerebral cortex morphology	153241	CEP120	ORPHA:220493
HP:0002538	Abnormal cerebral cortex morphology	153241	CEP120	ORPHA:475
HP:0002538	Abnormal cerebral cortex morphology	54903	MKS1	ORPHA:220493
HP:0002538	Abnormal cerebral cortex morphology	54903	MKS1	ORPHA:475
HP:0002538	Abnormal cerebral cortex morphology	95681	CEP41	ORPHA:220493
HP:0002538	Abnormal cerebral cortex morphology	95681	CEP41	ORPHA:475
HP:0002538	Abnormal cerebral cortex morphology	8320	EOMES	ORPHA:171703
HP:0002538	Abnormal cerebral cortex morphology	5610	EIF2AK2	OMIM:618877
HP:0002538	Abnormal cerebral cortex morphology	5290	PIK3CA	ORPHA:99802
HP:0002538	Abnormal cerebral cortex morphology	5290	PIK3CA	ORPHA:140944
HP:0002538	Abnormal cerebral cortex morphology	5290	PIK3CA	ORPHA:60040
HP:0002538	Abnormal cerebral cortex morphology	5290	PIK3CA	OMIM:602501
HP:0002538	Abnormal cerebral cortex morphology	26153	KIF26A	OMIM:620156
HP:0002538	Abnormal cerebral cortex morphology	4131	MAP1B	OMIM:618918
HP:0002538	Abnormal cerebral cortex morphology	11274	USP18	OMIM:617397
HP:0002538	Abnormal cerebral cortex morphology	9361	LONP1	ORPHA:79243
HP:0002538	Abnormal cerebral cortex morphology	5160	PDHA1	ORPHA:79243
HP:0002538	Abnormal cerebral cortex morphology	8131	NPRL3	ORPHA:98820
HP:0002538	Abnormal cerebral cortex morphology	10641	NPRL2	ORPHA:98820
HP:0002538	Abnormal cerebral cortex morphology	9681	DEPDC5	ORPHA:98820
HP:0002538	Abnormal cerebral cortex morphology	9681	DEPDC5	OMIM:620504
HP:0002538	Abnormal cerebral cortex morphology	80311	KLHL15	OMIM:300982
HP:0002538	Abnormal cerebral cortex morphology	9401	RECQL4	OMIM:218600
HP:0002538	Abnormal cerebral cortex morphology	9839	ZEB2	ORPHA:261552
HP:0002538	Abnormal cerebral cortex morphology	9839	ZEB2	ORPHA:261537
HP:0002538	Abnormal cerebral cortex morphology	2009	EML1	OMIM:600348
HP:0002538	Abnormal cerebral cortex morphology	4330	MN1	OMIM:618774
HP:0002538	Abnormal cerebral cortex morphology	64121	RRAGC	OMIM:620609
HP:0002538	Abnormal cerebral cortex morphology	1822	ATN1	OMIM:618494
HP:0002538	Abnormal cerebral cortex morphology	57572	DOCK6	OMIM:614219
HP:0002538	Abnormal cerebral cortex morphology	9851	KIAA0753	ORPHA:475
HP:0002538	Abnormal cerebral cortex morphology	79600	TCTN1	ORPHA:475
HP:0002538	Abnormal cerebral cortex morphology	51684	SUFU	ORPHA:475
HP:0002538	Abnormal cerebral cortex morphology	51684	SUFU	OMIM:617757
HP:0002538	Abnormal cerebral cortex morphology	65250	CPLANE1	ORPHA:475
HP:0002538	Abnormal cerebral cortex morphology	65250	CPLANE1	OMIM:277170
HP:0002538	Abnormal cerebral cortex morphology	91147	TMEM67	ORPHA:475
HP:0002538	Abnormal cerebral cortex morphology	200894	ARL13B	ORPHA:475
HP:0002538	Abnormal cerebral cortex morphology	9731	CEP104	ORPHA:475
HP:0002538	Abnormal cerebral cortex morphology	23247	KATNIP	ORPHA:475
HP:0002538	Abnormal cerebral cortex morphology	219854	TMEM218	ORPHA:475
HP:0002538	Abnormal cerebral cortex morphology	79867	TCTN2	ORPHA:475
HP:0002538	Abnormal cerebral cortex morphology	79867	TCTN2	OMIM:616654
HP:0002538	Abnormal cerebral cortex morphology	80776	B9D2	ORPHA:475
HP:0002538	Abnormal cerebral cortex morphology	10464	PIBF1	ORPHA:475
HP:0002538	Abnormal cerebral cortex morphology	80210	ARMC9	ORPHA:475
HP:0002538	Abnormal cerebral cortex morphology	80210	ARMC9	OMIM:617622
HP:0002538	Abnormal cerebral cortex morphology	23116	TOGARAM1	ORPHA:475
HP:0002538	Abnormal cerebral cortex morphology	25776	CBY1	ORPHA:475
HP:0002538	Abnormal cerebral cortex morphology	27077	B9D1	ORPHA:475
HP:0002538	Abnormal cerebral cortex morphology	403	ARL3	ORPHA:475
HP:0002538	Abnormal cerebral cortex morphology	80173	IFT74	ORPHA:475
HP:0002538	Abnormal cerebral cortex morphology	23512	SUZ12	OMIM:618786
HP:0002538	Abnormal cerebral cortex morphology	112858	TP53RK	OMIM:617730
HP:0002538	Abnormal cerebral cortex morphology	6608	SMO	OMIM:601707
HP:0002538	Abnormal cerebral cortex morphology	8270	LAGE3	OMIM:301006
HP:0002538	Abnormal cerebral cortex morphology	4659	PPP1R12A	OMIM:618820
HP:0002538	Abnormal cerebral cortex morphology	5828	PEX2	OMIM:614866
HP:0002538	Abnormal cerebral cortex morphology	5828	PEX2	ORPHA:912
HP:0002538	Abnormal cerebral cortex morphology	526	ATP6V1B2	ORPHA:79500
HP:0002538	Abnormal cerebral cortex morphology	80781	COL18A1	OMIM:267750
HP:0002538	Abnormal cerebral cortex morphology	2222	FDFT1	OMIM:618156
HP:0002538	Abnormal cerebral cortex morphology	55640	FLVCR2	OMIM:225790
HP:0002538	Abnormal cerebral cortex morphology	79143	MBOAT7	OMIM:617188
HP:0002538	Abnormal cerebral cortex morphology	10319	LAMC3	OMIM:614115
HP:0002538	Abnormal cerebral cortex morphology	55670	PEX26	OMIM:614872
HP:0002538	Abnormal cerebral cortex morphology	55670	PEX26	ORPHA:912
HP:0002538	Abnormal cerebral cortex morphology	7284	TUFM	OMIM:610678
HP:0002538	Abnormal cerebral cortex morphology	1376	CPT2	OMIM:608836
HP:0002538	Abnormal cerebral cortex morphology	1376	CPT2	ORPHA:228308
HP:0002538	Abnormal cerebral cortex morphology	4123	MAN2C1	OMIM:619775
HP:0002538	Abnormal cerebral cortex morphology	5879	RAC1	OMIM:617751
HP:0002538	Abnormal cerebral cortex morphology	5879	RAC1	ORPHA:500159
HP:0002538	Abnormal cerebral cortex morphology	200205	IBA57	OMIM:615330
HP:0002538	Abnormal cerebral cortex morphology	1284	COL4A2	OMIM:614483
HP:0002538	Abnormal cerebral cortex morphology	23219	FBXO28	OMIM:619777
HP:0002538	Abnormal cerebral cortex morphology	5195	PEX14	OMIM:614887
HP:0002538	Abnormal cerebral cortex morphology	5195	PEX14	ORPHA:912
HP:0002538	Abnormal cerebral cortex morphology	8884	SLC5A6	OMIM:618973
HP:0002538	Abnormal cerebral cortex morphology	57647	DHX37	OMIM:618731
HP:0002538	Abnormal cerebral cortex morphology	10243	GPHN	OMIM:615501
HP:0002538	Abnormal cerebral cortex morphology	5824	PEX19	ORPHA:912
HP:0002538	Abnormal cerebral cortex morphology	8504	PEX3	ORPHA:912
HP:0002538	Abnormal cerebral cortex morphology	8799	PEX11B	ORPHA:912
HP:0002538	Abnormal cerebral cortex morphology	9409	PEX16	ORPHA:912
HP:0002538	Abnormal cerebral cortex morphology	5190	PEX6	ORPHA:912
HP:0002538	Abnormal cerebral cortex morphology	5830	PEX5	ORPHA:912
HP:0002538	Abnormal cerebral cortex morphology	5193	PEX12	ORPHA:912
HP:0002538	Abnormal cerebral cortex morphology	5192	PEX10	ORPHA:912
HP:0002538	Abnormal cerebral cortex morphology	5297	PI4KA	OMIM:619708
HP:0002538	Abnormal cerebral cortex morphology	5080	PAX6	OMIM:106210
HP:0002538	Abnormal cerebral cortex morphology	7490	WT1	OMIM:106210
HP:0002538	Abnormal cerebral cortex morphology	90952	ESAM	OMIM:620371
HP:0002538	Abnormal cerebral cortex morphology	168667	BMPER	OMIM:608022
HP:0002538	Abnormal cerebral cortex morphology	55835	CPAP	OMIM:608393
HP:0002538	Abnormal cerebral cortex morphology	259266	ASPM	OMIM:608716
HP:0002538	Abnormal cerebral cortex morphology	9928	KIF14	OMIM:617914
HP:0002538	Abnormal cerebral cortex morphology	8621	CDK13	OMIM:617360
HP:0002538	Abnormal cerebral cortex morphology	55755	CDK5RAP2	OMIM:604804
HP:0002538	Abnormal cerebral cortex morphology	6925	TCF4	ORPHA:2896
HP:0002538	Abnormal cerebral cortex morphology	79648	MCPH1	OMIM:251200
HP:0002538	Abnormal cerebral cortex morphology	100151683	RNU4ATAC	OMIM:210710
HP:0002538	Abnormal cerebral cortex morphology	8239	USP9X	ORPHA:480880
HP:0002538	Abnormal cerebral cortex morphology	8239	USP9X	OMIM:300968
HP:0002538	Abnormal cerebral cortex morphology	51008	ASCC1	OMIM:616867
HP:0002538	Abnormal cerebral cortex morphology	219844	HYLS1	OMIM:236680
HP:0002538	Abnormal cerebral cortex morphology	80144	FRAS1	OMIM:219000
HP:0002538	Abnormal cerebral cortex morphology	2736	GLI2	OMIM:610829
HP:0002538	Abnormal cerebral cortex morphology	1718	DHCR24	ORPHA:35107
HP:0002538	Abnormal cerebral cortex morphology	3908	LAMA2	OMIM:607855
HP:0002538	Abnormal cerebral cortex morphology	57511	COG6	OMIM:614576
HP:0002538	Abnormal cerebral cortex morphology	79042	TSEN34	ORPHA:2524
HP:0002538	Abnormal cerebral cortex morphology	80746	TSEN2	ORPHA:2524
HP:0002538	Abnormal cerebral cortex morphology	51091	SEPSECS	ORPHA:2524
HP:0002538	Abnormal cerebral cortex morphology	8481	OFD1	OMIM:311200
HP:0002538	Abnormal cerebral cortex morphology	477	ATP1A2	OMIM:619602
HP:0002538	Abnormal cerebral cortex morphology	11193	WBP4	OMIM:620852
HP:0002538	Abnormal cerebral cortex morphology	26227	PHGDH	ORPHA:79351
HP:0002538	Abnormal cerebral cortex morphology	22995	CEP152	OMIM:613823
HP:0002538	Abnormal cerebral cortex morphology	79718	TBL1XR1	ORPHA:487825
HP:0002538	Abnormal cerebral cortex morphology	84892	POMGNT2	ORPHA:899
HP:0002538	Abnormal cerebral cortex morphology	148789	B3GALNT2	ORPHA:899
HP:0002538	Abnormal cerebral cortex morphology	1282	COL4A1	ORPHA:899
HP:0002538	Abnormal cerebral cortex morphology	729920	CRPPA	ORPHA:899
HP:0002538	Abnormal cerebral cortex morphology	10329	RXYLT1	ORPHA:899
HP:0002538	Abnormal cerebral cortex morphology	1605	DAG1	ORPHA:899
HP:0002538	Abnormal cerebral cortex morphology	11041	B4GAT1	ORPHA:899
HP:0002538	Abnormal cerebral cortex morphology	84197	POMK	ORPHA:899
HP:0002538	Abnormal cerebral cortex morphology	2218	FKTN	ORPHA:899
HP:0002538	Abnormal cerebral cortex morphology	55624	POMGNT1	ORPHA:899
HP:0002538	Abnormal cerebral cortex morphology	55780	ERMARD	ORPHA:75857
HP:0002538	Abnormal cerebral cortex morphology	50814	NSDHL	ORPHA:251383
HP:0002538	Abnormal cerebral cortex morphology	10978	CLP1	ORPHA:411493
HP:0002538	Abnormal cerebral cortex morphology	6651	SON	ORPHA:500150
HP:0002538	Abnormal cerebral cortex morphology	63925	ZNF335	ORPHA:329228
HP:0002538	Abnormal cerebral cortex morphology	8450	CUL4B	OMIM:300354
HP:0002538	Abnormal cerebral cortex morphology	9342	SNAP29	OMIM:609528
HP:0002538	Abnormal cerebral cortex morphology	137492	VPS37A	ORPHA:319199
HP:0002538	Abnormal cerebral cortex morphology	1281	COL3A1	OMIM:618343
HP:0002538	Abnormal cerebral cortex morphology	535	ATP6V0A1	OMIM:619971
HP:0002538	Abnormal cerebral cortex morphology	347733	TUBB2B	ORPHA:300573
HP:0002538	Abnormal cerebral cortex morphology	203068	TUBB	OMIM:615771
HP:0002538	Abnormal cerebral cortex morphology	440	ASNS	OMIM:615574
HP:0002538	Abnormal cerebral cortex morphology	7528	YY1	OMIM:617557
HP:0002538	Abnormal cerebral cortex morphology	3796	KIF2A	OMIM:615411
HP:0002538	Abnormal cerebral cortex morphology	57514	ARHGAP31	OMIM:100300
HP:0002538	Abnormal cerebral cortex morphology	7355	SLC35A2	ORPHA:356961
HP:0002538	Abnormal cerebral cortex morphology	3458	IFNG	ORPHA:805
HP:0002538	Abnormal cerebral cortex morphology	7248	TSC1	ORPHA:805
HP:0002538	Abnormal cerebral cortex morphology	7248	TSC1	OMIM:607341
HP:0002538	Abnormal cerebral cortex morphology	7249	TSC2	ORPHA:805
HP:0002538	Abnormal cerebral cortex morphology	7249	TSC2	OMIM:607341
HP:0002538	Abnormal cerebral cortex morphology	3295	HSD17B4	OMIM:261515
HP:0002538	Abnormal cerebral cortex morphology	25914	RTTN	ORPHA:468631
HP:0002538	Abnormal cerebral cortex morphology	9289	ADGRG1	ORPHA:101070
HP:0002538	Abnormal cerebral cortex morphology	5728	PTEN	ORPHA:101070
HP:0002538	Abnormal cerebral cortex morphology	28514	DLL1	OMIM:618709
HP:0002538	Abnormal cerebral cortex morphology	2475	MTOR	OMIM:607341
HP:0002538	Abnormal cerebral cortex morphology	6558	SLC12A2	OMIM:619083
HP:0002538	Abnormal cerebral cortex morphology	9896	FIG4	ORPHA:208441
HP:0002538	Abnormal cerebral cortex morphology	3800	KIF5C	OMIM:615282
HP:0002538	Abnormal cerebral cortex morphology	23327	NEDD4L	OMIM:617201
HP:0002538	Abnormal cerebral cortex morphology	7280	TUBB2A	OMIM:615763
HP:0002538	Abnormal cerebral cortex morphology	1654	DDX3X	ORPHA:457260
HP:0002538	Abnormal cerebral cortex morphology	10381	TUBB3	OMIM:614039
HP:0002538	Abnormal cerebral cortex morphology	25942	SIN3A	OMIM:613406
HP:0002538	Abnormal cerebral cortex morphology	26834	RNU4-2	OMIM:620851
HP:0002538	Abnormal cerebral cortex morphology	6335	SCN9A	ORPHA:36387
HP:0002538	Abnormal cerebral cortex morphology	112755	STX1B	ORPHA:36387
HP:0002538	Abnormal cerebral cortex morphology	6326	SCN2A	ORPHA:36387
HP:0002538	Abnormal cerebral cortex morphology	112476	PRRT2	ORPHA:36387
HP:0002538	Abnormal cerebral cortex morphology	6323	SCN1A	ORPHA:36387
HP:0002538	Abnormal cerebral cortex morphology	6324	SCN1B	ORPHA:36387
HP:0002538	Abnormal cerebral cortex morphology	348980	HCN1	ORPHA:36387
HP:0002538	Abnormal cerebral cortex morphology	2258	FGF13	ORPHA:36387
HP:0002538	Abnormal cerebral cortex morphology	2566	GABRG2	ORPHA:36387
HP:0002538	Abnormal cerebral cortex morphology	23545	ATP6V0A2	ORPHA:2834
HP:0002538	Abnormal cerebral cortex morphology	23545	ATP6V0A2	ORPHA:357074
HP:0002538	Abnormal cerebral cortex morphology	10297	APC2	OMIM:618677
HP:0002538	Abnormal cerebral cortex morphology	57465	TBC1D24	ORPHA:352582
HP:0002538	Abnormal cerebral cortex morphology	523	ATP6V1A	ORPHA:357074
HP:0002538	Abnormal cerebral cortex morphology	529	ATP6V1E1	ORPHA:357074
HP:0002538	Abnormal cerebral cortex morphology	5649	RELN	OMIM:257320
HP:0002538	Abnormal cerebral cortex morphology	123606	NIPA1	ORPHA:261183
HP:0002538	Abnormal cerebral cortex morphology	7283	TUBG1	ORPHA:261183
HP:0002538	Abnormal cerebral cortex morphology	81614	NIPA2	ORPHA:261183
HP:0002538	Abnormal cerebral cortex morphology	4208	MEF2C	ORPHA:228384
HP:0002538	Abnormal cerebral cortex morphology	2892	GRIA3	OMIM:300699
HP:0002538	Abnormal cerebral cortex morphology	4983	OPHN1	ORPHA:137831
HP:0002538	Abnormal cerebral cortex morphology	55681	SCYL2	OMIM:618766
HP:0002538	Abnormal cerebral cortex morphology	3097	HIVEP2	OMIM:616977
HP:0002538	Abnormal cerebral cortex morphology	1528	CYB5A	ORPHA:621
HP:0002538	Abnormal cerebral cortex morphology	1727	CYB5R3	ORPHA:621
HP:0002538	Abnormal cerebral cortex morphology	5147	PDE6D	OMIM:615665
HP:0002538	Abnormal cerebral cortex morphology	104	ADARB1	OMIM:618862
HP:0002538	Abnormal cerebral cortex morphology	9382	COG1	ORPHA:263508
HP:0002538	Abnormal cerebral cortex morphology	54664	TMEM106B	ORPHA:100070
HP:0002538	Abnormal cerebral cortex morphology	4137	MAPT	ORPHA:100070
HP:0002538	Abnormal cerebral cortex morphology	5091	PC	OMIM:266150
HP:0002538	Abnormal cerebral cortex morphology	2521	FUS	ORPHA:275872
HP:0002538	Abnormal cerebral cortex morphology	7415	VCP	ORPHA:275872
HP:0002538	Abnormal cerebral cortex morphology	23435	TARDBP	ORPHA:275872
HP:0002538	Abnormal cerebral cortex morphology	1717	DHCR7	OMIM:270400
HP:0002538	Abnormal cerebral cortex morphology	55777	MBD5	OMIM:156200
HP:0002538	Abnormal cerebral cortex morphology	55697	VAC14	ORPHA:3472
HP:0002538	Abnormal cerebral cortex morphology	2232	FDXR	ORPHA:543470
HP:0002538	Abnormal cerebral cortex morphology	23229	ARHGEF9	ORPHA:163985
HP:0002538	Abnormal cerebral cortex morphology	23229	ARHGEF9	OMIM:300607
HP:0002538	Abnormal cerebral cortex morphology	2290	FOXG1	OMIM:613454
HP:0002538	Abnormal cerebral cortex morphology	8813	DPM1	ORPHA:79322
HP:0002538	Abnormal cerebral cortex morphology	9276	COPB2	ORPHA:2512
HP:0002538	Abnormal cerebral cortex morphology	11113	CIT	ORPHA:2512
HP:0002538	Abnormal cerebral cortex morphology	284403	WDR62	ORPHA:2512
HP:0002538	Abnormal cerebral cortex morphology	55262	TRAPPC14	ORPHA:2512
HP:0002538	Abnormal cerebral cortex morphology	163786	SASS6	ORPHA:2512
HP:0002538	Abnormal cerebral cortex morphology	84879	MFSD2A	ORPHA:2512
HP:0002538	Abnormal cerebral cortex morphology	4176	MCM7	ORPHA:2512
HP:0002538	Abnormal cerebral cortex morphology	80254	CEP63	ORPHA:2512
HP:0002538	Abnormal cerebral cortex morphology	29081	METTL5	ORPHA:2512
HP:0002538	Abnormal cerebral cortex morphology	79023	NUP37	ORPHA:2512
HP:0002538	Abnormal cerebral cortex morphology	23310	NCAPD3	ORPHA:2512
HP:0002538	Abnormal cerebral cortex morphology	6301	SARS1	ORPHA:2512
HP:0002538	Abnormal cerebral cortex morphology	6491	STIL	ORPHA:2512
HP:0002538	Abnormal cerebral cortex morphology	23141	ANKLE2	ORPHA:2512
HP:0002538	Abnormal cerebral cortex morphology	7109	TRAPPC10	ORPHA:2512
HP:0002538	Abnormal cerebral cortex morphology	7453	WARS1	ORPHA:2512
HP:0002538	Abnormal cerebral cortex morphology	1911	PHC1	ORPHA:2512
HP:0002538	Abnormal cerebral cortex morphology	1062	CENPE	ORPHA:2512
HP:0002538	Abnormal cerebral cortex morphology	6884	TAF13	ORPHA:2512
HP:0002538	Abnormal cerebral cortex morphology	9662	CEP135	ORPHA:2512
HP:0002538	Abnormal cerebral cortex morphology	57082	KNL1	ORPHA:2512
HP:0002538	Abnormal cerebral cortex morphology	1021	CDK6	ORPHA:2512
HP:0002538	Abnormal cerebral cortex morphology	84065	TMEM222	OMIM:619470
HP:0002538	Abnormal cerebral cortex morphology	10128	LRPPRC	OMIM:220111
HP:0002538	Abnormal cerebral cortex morphology	10617	STAMBP	OMIM:614261
HP:0002538	Abnormal cerebral cortex morphology	54973	INTS11	OMIM:620428
HP:0002538	Abnormal cerebral cortex morphology	55627	SMPD4	OMIM:618622
HP:0002538	Abnormal cerebral cortex morphology	116115	ZNF526	OMIM:619877
HP:0002538	Abnormal cerebral cortex morphology	8405	SPOP	OMIM:618828
HP:0002538	Abnormal cerebral cortex morphology	1457	CSNK2A1	OMIM:617062
HP:0002538	Abnormal cerebral cortex morphology	51124	IER3IP1	OMIM:614231
HP:0002538	Abnormal cerebral cortex morphology	5859	QARS1	OMIM:615760
HP:0002538	Abnormal cerebral cortex morphology	22983	MAST1	OMIM:618273
HP:0002538	Abnormal cerebral cortex morphology	51741	WWOX	OMIM:616211
HP:0002538	Abnormal cerebral cortex morphology	9442	MED27	OMIM:619286
HP:0002538	Abnormal cerebral cortex morphology	91875	TTC5	OMIM:619244
HP:0002538	Abnormal cerebral cortex morphology	84340	GFM2	OMIM:618397
HP:0002538	Abnormal cerebral cortex morphology	10293	TRAIP	OMIM:616777
HP:0002538	Abnormal cerebral cortex morphology	5591	PRKDC	OMIM:615966
HP:0002538	Abnormal cerebral cortex morphology	79693	YRDC	OMIM:619609
HP:0002538	Abnormal cerebral cortex morphology	4001	LMNB1	OMIM:619179
HP:0002538	Abnormal cerebral cortex morphology	7518	XRCC4	OMIM:616541
HP:0002538	Abnormal cerebral cortex morphology	84823	LMNB2	OMIM:616540
HP:0002538	Abnormal cerebral cortex morphology	84823	LMNB2	OMIM:619180
HP:0002538	Abnormal cerebral cortex morphology	6597	SMARCA4	ORPHA:1465
HP:0002538	Abnormal cerebral cortex morphology	6598	SMARCB1	ORPHA:1465
HP:0002538	Abnormal cerebral cortex morphology	6659	SOX4	ORPHA:1465
HP:0002538	Abnormal cerebral cortex morphology	8289	ARID1A	ORPHA:1465
HP:0002538	Abnormal cerebral cortex morphology	5977	DPF2	ORPHA:1465
HP:0002538	Abnormal cerebral cortex morphology	6601	SMARCC2	ORPHA:1465
HP:0002538	Abnormal cerebral cortex morphology	6602	SMARCD1	ORPHA:1465
HP:0002538	Abnormal cerebral cortex morphology	57492	ARID1B	ORPHA:1465
HP:0002538	Abnormal cerebral cortex morphology	196528	ARID2	ORPHA:1465
HP:0002538	Abnormal cerebral cortex morphology	6605	SMARCE1	ORPHA:1465
HP:0002538	Abnormal cerebral cortex morphology	6664	SOX11	ORPHA:1465
HP:0002538	Abnormal cerebral cortex morphology	7436	VLDLR	OMIM:224050
HP:0002538	Abnormal cerebral cortex morphology	85459	CEP295	OMIM:620767
HP:0002538	Abnormal cerebral cortex morphology	2744	GLS	OMIM:618328
HP:0002538	Abnormal cerebral cortex morphology	10015	PDCD6IP	OMIM:620047
HP:0002538	Abnormal cerebral cortex morphology	84081	NSRP1	OMIM:620001
HP:0002538	Abnormal cerebral cortex morphology	1781	DYNC1I2	OMIM:618492
HP:0002538	Abnormal cerebral cortex morphology	51645	PPIL1	OMIM:619301
HP:0002538	Abnormal cerebral cortex morphology	51362	CDC40	OMIM:619302
HP:0002538	Abnormal cerebral cortex morphology	3832	KIF11	OMIM:152950
HP:0002538	Abnormal cerebral cortex morphology	4700	NDUFA6	OMIM:618253
HP:0002538	Abnormal cerebral cortex morphology	11284	PNKP	OMIM:613402
HP:0002538	Abnormal cerebral cortex morphology	51053	GMNN	OMIM:616835
HP:0002538	Abnormal cerebral cortex morphology	29980	DONSON	OMIM:617604
HP:0002538	Abnormal cerebral cortex morphology	29980	DONSON	OMIM:251230
HP:0002538	Abnormal cerebral cortex morphology	8642	DCHS1	OMIM:601390
HP:0002538	Abnormal cerebral cortex morphology	27245	AHDC1	OMIM:615829
HP:0002538	Abnormal cerebral cortex morphology	10273	STUB1	ORPHA:412057
HP:0002538	Abnormal cerebral cortex morphology	4692	NDN	ORPHA:177904
HP:0002538	Abnormal cerebral cortex morphology	4692	NDN	ORPHA:177901
HP:0002538	Abnormal cerebral cortex morphology	4692	NDN	ORPHA:98754
HP:0002538	Abnormal cerebral cortex morphology	54551	MAGEL2	ORPHA:177904
HP:0002538	Abnormal cerebral cortex morphology	54551	MAGEL2	ORPHA:177901
HP:0002538	Abnormal cerebral cortex morphology	54551	MAGEL2	ORPHA:98754
HP:0002538	Abnormal cerebral cortex morphology	4948	OCA2	ORPHA:177904
HP:0002538	Abnormal cerebral cortex morphology	4948	OCA2	ORPHA:177901
HP:0002538	Abnormal cerebral cortex morphology	4948	OCA2	ORPHA:98754
HP:0002538	Abnormal cerebral cortex morphology	26278	SACS	ORPHA:98
HP:0002538	Abnormal cerebral cortex morphology	5927	KDM5A	OMIM:620820
HP:0002538	Abnormal cerebral cortex morphology	10430	TMEM147	OMIM:620075
HP:0002538	Abnormal cerebral cortex morphology	85440	DOCK7	ORPHA:411986
HP:0002538	Abnormal cerebral cortex morphology	23162	MAPK8IP3	OMIM:618443
HP:0002538	Abnormal cerebral cortex morphology	10367	MICU1	OMIM:615673
HP:0002538	Abnormal cerebral cortex morphology	6472	SHMT2	OMIM:619121
HP:0002538	Abnormal cerebral cortex morphology	2253	FGF8	ORPHA:280195
HP:0002538	Abnormal cerebral cortex morphology	7050	TGIF1	ORPHA:280195
HP:0002538	Abnormal cerebral cortex morphology	4838	NODAL	ORPHA:280195
HP:0002538	Abnormal cerebral cortex morphology	6469	SHH	ORPHA:280195
HP:0002538	Abnormal cerebral cortex morphology	7546	ZIC2	ORPHA:280195
HP:0002538	Abnormal cerebral cortex morphology	2619	GAS1	ORPHA:280195
HP:0002538	Abnormal cerebral cortex morphology	84976	DISP1	ORPHA:280195
HP:0002538	Abnormal cerebral cortex morphology	8928	FOXH1	ORPHA:280195
HP:0002538	Abnormal cerebral cortex morphology	6997	CRIPTO	ORPHA:280195
HP:0002538	Abnormal cerebral cortex morphology	5727	PTCH1	ORPHA:280195
HP:0002538	Abnormal cerebral cortex morphology	50937	CDON	ORPHA:280195
HP:0002538	Abnormal cerebral cortex morphology	478	ATP1A3	OMIM:619606
HP:0002538	Abnormal cerebral cortex morphology	54187	NANS	OMIM:610442
HP:0002538	Abnormal cerebral cortex morphology	26047	CNTNAP2	OMIM:610042
HP:0002538	Abnormal cerebral cortex morphology	1778	DYNC1H1	OMIM:614563
HP:0002538	Abnormal cerebral cortex morphology	23309	SIN3B	ORPHA:500166
HP:0002538	Abnormal cerebral cortex morphology	3912	LAMB1	ORPHA:352682
HP:0002538	Abnormal cerebral cortex morphology	59	ACTA2	OMIM:613834
HP:0002538	Abnormal cerebral cortex morphology	4613	MYCN	OMIM:620748
HP:0002538	Abnormal cerebral cortex morphology	27286	SRPX2	ORPHA:98889
HP:0002538	Abnormal cerebral cortex morphology	27286	SRPX2	OMIM:300643
HP:0002538	Abnormal cerebral cortex morphology	22858	CILK1	OMIM:612651
HP:0002538	Abnormal cerebral cortex morphology	4953	ODC1	OMIM:619075
HP:0002538	Abnormal cerebral cortex morphology	10524	KAT5	OMIM:619103
HP:0002538	Abnormal cerebral cortex morphology	2261	FGFR3	OMIM:187601
HP:0002538	Abnormal cerebral cortex morphology	2261	FGFR3	OMIM:187600
HP:0002538	Abnormal cerebral cortex morphology	2271	FH	OMIM:606812
HP:0002538	Abnormal cerebral cortex morphology	2639	GCDH	ORPHA:25
HP:0002538	Abnormal cerebral cortex morphology	79848	CSPP1	ORPHA:397715
HP:0002538	Abnormal cerebral cortex morphology	9786	KIAA0586	ORPHA:397715
HP:0002538	Abnormal cerebral cortex morphology	54805	CNNM2	OMIM:616418
HP:0002538	Abnormal cerebral cortex morphology	26005	C2CD3	ORPHA:434179
HP:0002538	Abnormal cerebral cortex morphology	2917	GRM7	OMIM:618922
HP:0002538	Abnormal cerebral cortex morphology	57094	CPA6	OMIM:614418
HP:0002538	Abnormal cerebral cortex morphology	29998	BICRA	OMIM:619325
HP:0002538	Abnormal cerebral cortex morphology	4750	NEK1	OMIM:617892
HP:0002538	Abnormal cerebral cortex morphology	84631	SLITRK2	OMIM:301107
HP:0002539	Cortical dysplasia	259266	ASPM	OMIM:608716
HP:0002539	Cortical dysplasia	8450	CUL4B	OMIM:300354
HP:0002539	Cortical dysplasia	9342	SNAP29	OMIM:609528
HP:0002539	Cortical dysplasia	137492	VPS37A	ORPHA:319199
HP:0002539	Cortical dysplasia	1281	COL3A1	OMIM:618343
HP:0002539	Cortical dysplasia	535	ATP6V0A1	OMIM:619971
HP:0002539	Cortical dysplasia	347733	TUBB2B	ORPHA:300573
HP:0002539	Cortical dysplasia	203068	TUBB	OMIM:615771
HP:0002539	Cortical dysplasia	440	ASNS	OMIM:615574
HP:0002539	Cortical dysplasia	7528	YY1	OMIM:617557
HP:0002539	Cortical dysplasia	3796	KIF2A	OMIM:615411
HP:0002539	Cortical dysplasia	57514	ARHGAP31	OMIM:100300
HP:0002539	Cortical dysplasia	7355	SLC35A2	ORPHA:356961
HP:0002539	Cortical dysplasia	3458	IFNG	ORPHA:805
HP:0002539	Cortical dysplasia	7248	TSC1	ORPHA:805
HP:0002539	Cortical dysplasia	7248	TSC1	OMIM:607341
HP:0002539	Cortical dysplasia	7249	TSC2	ORPHA:805
HP:0002539	Cortical dysplasia	7249	TSC2	OMIM:607341
HP:0002539	Cortical dysplasia	3295	HSD17B4	OMIM:261515
HP:0002539	Cortical dysplasia	1282	COL4A1	OMIM:175780
HP:0002539	Cortical dysplasia	25914	RTTN	ORPHA:468631
HP:0002539	Cortical dysplasia	9289	ADGRG1	ORPHA:101070
HP:0002539	Cortical dysplasia	5728	PTEN	ORPHA:101070
HP:0002539	Cortical dysplasia	28514	DLL1	OMIM:618709
HP:0002539	Cortical dysplasia	2475	MTOR	OMIM:607341
HP:0002539	Cortical dysplasia	6558	SLC12A2	OMIM:619083
HP:0002539	Cortical dysplasia	9896	FIG4	ORPHA:208441
HP:0002539	Cortical dysplasia	3800	KIF5C	OMIM:615282
HP:0002539	Cortical dysplasia	11041	B4GAT1	OMIM:615287
HP:0002539	Cortical dysplasia	23327	NEDD4L	OMIM:617201
HP:0002539	Cortical dysplasia	2260	FGFR1	OMIM:613001
HP:0002539	Cortical dysplasia	7280	TUBB2A	OMIM:615763
HP:0002539	Cortical dysplasia	1654	DDX3X	ORPHA:457260
HP:0002539	Cortical dysplasia	10381	TUBB3	OMIM:614039
HP:0002539	Cortical dysplasia	25942	SIN3A	OMIM:613406
HP:0002539	Cortical dysplasia	26834	RNU4-2	OMIM:620851
HP:0002539	Cortical dysplasia	6335	SCN9A	ORPHA:36387
HP:0002539	Cortical dysplasia	112755	STX1B	ORPHA:36387
HP:0002539	Cortical dysplasia	2563	GABRD	ORPHA:36387
HP:0002539	Cortical dysplasia	6326	SCN2A	ORPHA:36387
HP:0002539	Cortical dysplasia	112476	PRRT2	ORPHA:36387
HP:0002539	Cortical dysplasia	6323	SCN1A	ORPHA:36387
HP:0002539	Cortical dysplasia	6324	SCN1B	ORPHA:36387
HP:0002539	Cortical dysplasia	348980	HCN1	ORPHA:36387
HP:0002539	Cortical dysplasia	2258	FGF13	ORPHA:36387
HP:0002539	Cortical dysplasia	84059	ADGRV1	ORPHA:36387
HP:0002539	Cortical dysplasia	2566	GABRG2	ORPHA:36387
HP:0002539	Cortical dysplasia	9997	SCO2	OMIM:604377
HP:0002539	Cortical dysplasia	9276	COPB2	OMIM:619884
HP:0002539	Cortical dysplasia	26047	CNTNAP2	OMIM:610042
HP:0002539	Cortical dysplasia	8131	NPRL3	OMIM:617118
HP:0002539	Cortical dysplasia	8131	NPRL3	ORPHA:98820
HP:0002539	Cortical dysplasia	10585	POMT1	OMIM:613155
HP:0002539	Cortical dysplasia	1778	DYNC1H1	OMIM:614563
HP:0002539	Cortical dysplasia	10641	NPRL2	OMIM:617116
HP:0002539	Cortical dysplasia	10641	NPRL2	ORPHA:98820
HP:0002539	Cortical dysplasia	55746	NUP133	OMIM:618349
HP:0002539	Cortical dysplasia	5290	PIK3CA	ORPHA:99802
HP:0002539	Cortical dysplasia	10000	AKT3	ORPHA:99802
HP:0002539	Cortical dysplasia	9681	DEPDC5	OMIM:604364
HP:0002539	Cortical dysplasia	9681	DEPDC5	ORPHA:98820
HP:0002539	Cortical dysplasia	23309	SIN3B	ORPHA:500166
HP:0020111	Abnormal CD4+CD25+ regulatory T cell proportion	84433	CARD11	OMIM:615206
HP:0020111	Abnormal CD4+CD25+ regulatory T cell proportion	56259	CTNNBL1	OMIM:619846
HP:0020111	Abnormal CD4+CD25+ regulatory T cell proportion	5294	PIK3CG	OMIM:619802
HP:0020111	Abnormal CD4+CD25+ regulatory T cell proportion	3559	IL2RA	OMIM:606367
HP:0020114	Persistent human papillomavirus infection	3574	IL7	OMIM:618309
HP:0020114	Persistent human papillomavirus infection	147138	TMC8	OMIM:618231
HP:0020113	Decreased proportion of CD4+CD25+ regulatory T cells	84433	CARD11	OMIM:615206
HP:0020113	Decreased proportion of CD4+CD25+ regulatory T cells	56259	CTNNBL1	OMIM:619846
HP:0020113	Decreased proportion of CD4+CD25+ regulatory T cells	5294	PIK3CG	OMIM:619802
HP:0020113	Decreased proportion of CD4+CD25+ regulatory T cells	3559	IL2RA	OMIM:606367
HP:0020118	Radial artery aplasia	6138	RPL15	ORPHA:124
HP:0020118	Radial artery aplasia	6224	RPS20	ORPHA:124
HP:0020118	Radial artery aplasia	6165	RPL35A	ORPHA:124
HP:0020118	Radial artery aplasia	6132	RPL8	ORPHA:124
HP:0020118	Radial artery aplasia	6223	RPS19	ORPHA:124
HP:0020118	Radial artery aplasia	6232	RPS27	ORPHA:124
HP:0020118	Radial artery aplasia	55027	HEATR3	ORPHA:124
HP:0020118	Radial artery aplasia	6160	RPL31	ORPHA:124
HP:0020118	Radial artery aplasia	6201	RPS7	ORPHA:124
HP:0020118	Radial artery aplasia	6155	RPL27	ORPHA:124
HP:0020118	Radial artery aplasia	6234	RPS28	ORPHA:124
HP:0020118	Radial artery aplasia	6135	RPL11	ORPHA:124
HP:0020118	Radial artery aplasia	6229	RPS24	ORPHA:124
HP:0020118	Radial artery aplasia	6125	RPL5	ORPHA:124
HP:0020118	Radial artery aplasia	6204	RPS10	ORPHA:124
HP:0020118	Radial artery aplasia	2623	GATA1	ORPHA:124
HP:0020118	Radial artery aplasia	6133	RPL9	ORPHA:124
HP:0020118	Radial artery aplasia	6231	RPS26	ORPHA:124
HP:0020118	Radial artery aplasia	11224	RPL35	ORPHA:124
HP:0020118	Radial artery aplasia	6218	RPS17	ORPHA:124
HP:0020118	Radial artery aplasia	6154	RPL26	ORPHA:124
HP:0020118	Radial artery aplasia	6210	RPS15A	ORPHA:124
HP:0020118	Radial artery aplasia	90121	TSR2	ORPHA:124
HP:0020118	Radial artery aplasia	6141	RPL18	ORPHA:124
HP:0020118	Radial artery aplasia	6235	RPS29	ORPHA:124
HP:0020118	Radial artery aplasia	51816	ADA2	ORPHA:124
HP:0020119	Abnormal retinal nerve fiber layer morphology	1593	CYP27A1	ORPHA:909
HP:0020119	Abnormal retinal nerve fiber layer morphology	26278	SACS	ORPHA:98
HP:0020119	Abnormal retinal nerve fiber layer morphology	26278	SACS	OMIM:270550
HP:0020119	Abnormal retinal nerve fiber layer morphology	5159	PDGFRB	OMIM:601812
HP:0020119	Abnormal retinal nerve fiber layer morphology	4976	OPA1	ORPHA:1215
HP:0020119	Abnormal retinal nerve fiber layer morphology	355	FAS	ORPHA:3437
HP:0020119	Abnormal retinal nerve fiber layer morphology	26191	PTPN22	ORPHA:3437
HP:0020119	Abnormal retinal nerve fiber layer morphology	84277	DNAJC30	OMIM:619382
HP:0020119	Abnormal retinal nerve fiber layer morphology	84277	DNAJC30	ORPHA:104
HP:0020119	Abnormal retinal nerve fiber layer morphology	4535	MT-ND1	ORPHA:104
HP:0020119	Abnormal retinal nerve fiber layer morphology	4536	MT-ND2	ORPHA:104
HP:0020119	Abnormal retinal nerve fiber layer morphology	4538	MT-ND4	ORPHA:104
HP:0020119	Abnormal retinal nerve fiber layer morphology	4720	NDUFS2	ORPHA:104
HP:0020119	Abnormal retinal nerve fiber layer morphology	4512	MT-CO1	ORPHA:104
HP:0020119	Abnormal retinal nerve fiber layer morphology	4514	MT-CO3	ORPHA:104
HP:0020119	Abnormal retinal nerve fiber layer morphology	4519	MT-CYB	ORPHA:104
HP:0020119	Abnormal retinal nerve fiber layer morphology	4508	MT-ATP6	ORPHA:104
HP:0020119	Abnormal retinal nerve fiber layer morphology	4540	MT-ND5	ORPHA:104
HP:0020119	Abnormal retinal nerve fiber layer morphology	4541	MT-ND6	ORPHA:104
HP:0020119	Abnormal retinal nerve fiber layer morphology	4539	MT-ND4L	ORPHA:104
HP:0020117	Hypoplastic dermoepidermal hemidesmosomes	3909	LAMA3	ORPHA:79404
HP:0020117	Hypoplastic dermoepidermal hemidesmosomes	3909	LAMA3	OMIM:619784
HP:0020117	Hypoplastic dermoepidermal hemidesmosomes	3918	LAMC2	ORPHA:79404
HP:0020117	Hypoplastic dermoepidermal hemidesmosomes	3918	LAMC2	OMIM:619785
HP:0020117	Hypoplastic dermoepidermal hemidesmosomes	3914	LAMB3	ORPHA:79404
HP:0020117	Hypoplastic dermoepidermal hemidesmosomes	3691	ITGB4	OMIM:619816
HP:0020117	Hypoplastic dermoepidermal hemidesmosomes	3691	ITGB4	OMIM:226730
HP:0020117	Hypoplastic dermoepidermal hemidesmosomes	1308	COL17A1	ORPHA:79406
HP:0020117	Hypoplastic dermoepidermal hemidesmosomes	3655	ITGA6	OMIM:619817
HP:0020117	Hypoplastic dermoepidermal hemidesmosomes	5339	PLEC	OMIM:131950
HP:0020117	Hypoplastic dermoepidermal hemidesmosomes	5339	PLEC	OMIM:226730
HP:0020110	Bone fracture	6904	TBCD	ORPHA:496641
HP:0020110	Bone fracture	8878	SQSTM1	OMIM:167250
HP:0020110	Bone fracture	8792	TNFRSF11A	OMIM:602080
HP:0020110	Bone fracture	4507	MTAP	OMIM:112250
HP:0020110	Bone fracture	1186	CLCN7	OMIM:166600
HP:0020110	Bone fracture	202018	TAPT1	OMIM:616897
HP:0020110	Bone fracture	2131	EXT1	ORPHA:321
HP:0020110	Bone fracture	2132	EXT2	ORPHA:321
HP:0020110	Bone fracture	2592	GALT	ORPHA:79239
HP:0020110	Bone fracture	2778	GNAS	ORPHA:562
HP:0020110	Bone fracture	7317	UBA1	ORPHA:1145
HP:0020110	Bone fracture	6514	SLC2A2	ORPHA:2088
HP:0020110	Bone fracture	7841	MOGS	ORPHA:79330
HP:0020110	Bone fracture	8074	FGF23	ORPHA:89937
HP:0020110	Bone fracture	64682	ANAPC1	ORPHA:221008
HP:0020110	Bone fracture	64132	XYLT2	OMIM:605822
HP:0020110	Bone fracture	23299	BICD2	OMIM:618291
HP:0020110	Bone fracture	10312	TCIRG1	OMIM:259700
HP:0020110	Bone fracture	221496	LEMD2	OMIM:619322
HP:0020110	Bone fracture	3930	LBR	OMIM:215140
HP:0020110	Bone fracture	55503	TRPV6	OMIM:618188
HP:0020110	Bone fracture	25923	ATL3	OMIM:615632
HP:0005791	Cortical thickening of long bone diaphyses	4125	MAN2B1	ORPHA:309282
HP:0005791	Cortical thickening of long bone diaphyses	1277	COL1A1	ORPHA:1310
HP:0005791	Cortical thickening of long bone diaphyses	6905	TBCE	ORPHA:93324
HP:0005791	Cortical thickening of long bone diaphyses	7040	TGFB1	ORPHA:1328
HP:0005791	Cortical thickening of long bone diaphyses	7040	TGFB1	OMIM:131300
HP:0005791	Cortical thickening of long bone diaphyses	63901	FAM111A	ORPHA:93325
HP:0005792	Short humerus	2535	FZD2	OMIM:164745
HP:0005792	Short humerus	2535	FZD2	ORPHA:93328
HP:0005792	Short humerus	9361	LONP1	OMIM:600373
HP:0005792	Short humerus	8200	GDF5	OMIM:200700
HP:0005792	Short humerus	64327	LMBR1	OMIM:200500
HP:0005792	Short humerus	64327	LMBR1	ORPHA:931
HP:0005792	Short humerus	64841	GNPNAT1	OMIM:619598
HP:0005792	Short humerus	6628	SNRPB	OMIM:117650
HP:0005792	Short humerus	10588	MTHFS	OMIM:618367
HP:0005792	Short humerus	9851	KIAA0753	OMIM:619479
HP:0005792	Short humerus	23483	TGDS	OMIM:616145
HP:0005792	Short humerus	10082	GPC6	OMIM:258315
HP:0005792	Short humerus	100151683	RNU4ATAC	OMIM:210710
HP:0005792	Short humerus	538	ATP7A	OMIM:304150
HP:0005792	Short humerus	11128	POLR3A	OMIM:264090
HP:0005792	Short humerus	11128	POLR3A	ORPHA:3455
HP:0005792	Short humerus	57167	SALL4	OMIM:607323
HP:0005792	Short humerus	57167	SALL4	ORPHA:959
HP:0005792	Short humerus	55764	IFT122	OMIM:218330
HP:0005792	Short humerus	145258	GSC	OMIM:602471
HP:0005792	Short humerus	2317	FLNB	OMIM:108720
HP:0005792	Short humerus	79087	ALG12	OMIM:607143
HP:0005792	Short humerus	9241	NOG	OMIM:186500
HP:0005792	Short humerus	157570	ESCO2	OMIM:268300
HP:0005792	Short humerus	4982	TNFRSF11B	OMIM:239000
HP:0005792	Short humerus	6910	TBX5	OMIM:142900
HP:0005792	Short humerus	114803	MYSM1	ORPHA:508542
HP:0005792	Short humerus	8540	AGPS	OMIM:600121
HP:0005792	Short humerus	9401	RECQL4	OMIM:218600
HP:0005792	Short humerus	6926	TBX3	OMIM:181450
HP:0005792	Short humerus	8443	GNPAT	OMIM:222765
HP:0005792	Short humerus	3549	IHH	OMIM:607778
HP:0005792	Short humerus	7547	ZIC3	OMIM:314390
HP:0005792	Short humerus	2187	FANCB	OMIM:314390
HP:0005792	Short humerus	8802	SUCLG1	ORPHA:17
HP:0005792	Short humerus	2316	FLNA	OMIM:309350
HP:0005792	Short humerus	5830	PEX5	OMIM:616716
HP:0005793	Shortening of all distal phalanges of the toes	9896	FIG4	ORPHA:3472
HP:0005793	Shortening of all distal phalanges of the toes	55697	VAC14	ORPHA:3472
HP:0005793	Shortening of all distal phalanges of the toes	59341	TRPV4	ORPHA:85169
HP:0004950	Peripheral arterial stenosis	3949	LDLR	ORPHA:391665
HP:0004950	Peripheral arterial stenosis	255738	PCSK9	ORPHA:391665
HP:0004950	Peripheral arterial stenosis	26119	LDLRAP1	ORPHA:391665
HP:0004950	Peripheral arterial stenosis	338	APOB	ORPHA:391665
HP:0004950	Peripheral arterial stenosis	64240	ABCG5	ORPHA:391665
HP:0004950	Peripheral arterial stenosis	64241	ABCG8	ORPHA:391665
HP:0004950	Peripheral arterial stenosis	2006	ELN	OMIM:185500
HP:0004950	Peripheral arterial stenosis	2006	ELN	ORPHA:91387
HP:0004950	Peripheral arterial stenosis	4352	MPL	ORPHA:71493
HP:0004950	Peripheral arterial stenosis	7066	THPO	ORPHA:71493
HP:0004950	Peripheral arterial stenosis	3717	JAK2	ORPHA:71493
HP:0004950	Peripheral arterial stenosis	3423	IDS	ORPHA:217085
HP:0004950	Peripheral arterial stenosis	3423	IDS	ORPHA:217093
HP:0004950	Peripheral arterial stenosis	189	AGXT	OMIM:259900
HP:0004950	Peripheral arterial stenosis	4629	MYH11	ORPHA:229
HP:0004950	Peripheral arterial stenosis	4629	MYH11	ORPHA:91387
HP:0004950	Peripheral arterial stenosis	4000	LMNA	ORPHA:79474
HP:0004950	Peripheral arterial stenosis	7046	TGFBR1	ORPHA:91387
HP:0004950	Peripheral arterial stenosis	7048	TGFBR2	ORPHA:91387
HP:0004950	Peripheral arterial stenosis	4015	LOX	ORPHA:91387
HP:0004950	Peripheral arterial stenosis	4087	SMAD2	ORPHA:91387
HP:0004950	Peripheral arterial stenosis	7043	TGFB3	ORPHA:91387
HP:0004950	Peripheral arterial stenosis	4088	SMAD3	ORPHA:91387
HP:0004950	Peripheral arterial stenosis	7042	TGFB2	ORPHA:91387
HP:0004950	Peripheral arterial stenosis	4089	SMAD4	ORPHA:91387
HP:0004950	Peripheral arterial stenosis	2200	FBN1	ORPHA:91387
HP:0004950	Peripheral arterial stenosis	59	ACTA2	ORPHA:91387
HP:0004950	Peripheral arterial stenosis	5592	PRKG1	ORPHA:91387
HP:0004950	Peripheral arterial stenosis	2301	FOXE3	ORPHA:91387
HP:0004950	Peripheral arterial stenosis	4144	MAT2A	ORPHA:91387
HP:0004950	Peripheral arterial stenosis	23493	HEY2	ORPHA:91387
HP:0004950	Peripheral arterial stenosis	8076	MFAP5	ORPHA:91387
HP:0004950	Peripheral arterial stenosis	4638	MYLK	ORPHA:91387
HP:0004950	Peripheral arterial stenosis	79875	THSD4	ORPHA:91387
HP:0004950	Peripheral arterial stenosis	348	APOE	ORPHA:412
HP:0004950	Peripheral arterial stenosis	368	ABCC6	OMIM:177850
HP:0001182	Tapered finger	8367	H4C5	OMIM:619950
HP:0001182	Tapered finger	9853	RUSC2	OMIM:617773
HP:0001182	Tapered finger	23019	CNOT1	OMIM:619033
HP:0001182	Tapered finger	26128	KIFBP	OMIM:609460
HP:0001182	Tapered finger	2972	BRF1	OMIM:616202
HP:0001182	Tapered finger	2972	BRF1	ORPHA:444072
HP:0001182	Tapered finger	56916	SMARCAD1	OMIM:129200
HP:0001182	Tapered finger	56916	SMARCAD1	OMIM:181600
HP:0001182	Tapered finger	374654	KIF7	OMIM:200990
HP:0001182	Tapered finger	374654	KIF7	OMIM:607131
HP:0001182	Tapered finger	9578	CDC42BPB	OMIM:619841
HP:0001182	Tapered finger	3020	H3-3A	OMIM:619720
HP:0001182	Tapered finger	170302	ARX	OMIM:300004
HP:0001182	Tapered finger	3021	H3-3B	OMIM:619721
HP:0001182	Tapered finger	10300	KATNB1	OMIM:616212
HP:0001182	Tapered finger	2624	GATA2	OMIM:614038
HP:0001182	Tapered finger	55904	KMT2E	OMIM:618512
HP:0001182	Tapered finger	24142	NAA80	OMIM:620830
HP:0001182	Tapered finger	10978	CLP1	OMIM:615803
HP:0001182	Tapered finger	55650	PIGV	OMIM:239300
HP:0001182	Tapered finger	6335	SCN9A	ORPHA:970
HP:0001182	Tapered finger	65125	WNK1	ORPHA:970
HP:0001182	Tapered finger	54463	RETREG1	ORPHA:970
HP:0001182	Tapered finger	547	KIF1A	ORPHA:970
HP:0001182	Tapered finger	6595	SMARCA2	OMIM:619293
HP:0001182	Tapered finger	6197	RPS6KA3	OMIM:303600
HP:0001182	Tapered finger	6197	RPS6KA3	ORPHA:276630
HP:0001182	Tapered finger	6197	RPS6KA3	ORPHA:192
HP:0001182	Tapered finger	9698	PUM1	OMIM:620719
HP:0001182	Tapered finger	9698	PUM1	OMIM:617931
HP:0001182	Tapered finger	80204	FBXO11	OMIM:618089
HP:0001182	Tapered finger	113189	CHST14	ORPHA:2953
HP:0001182	Tapered finger	29940	DSE	ORPHA:2953
HP:0001182	Tapered finger	1889	ECE1	OMIM:613870
HP:0001182	Tapered finger	9326	ZNHIT3	ORPHA:2836
HP:0001182	Tapered finger	9326	ZNHIT3	OMIM:260565
HP:0001182	Tapered finger	2770	GNAI1	OMIM:619854
HP:0001182	Tapered finger	93627	TBCK	OMIM:616900
HP:0001182	Tapered finger	83550	GPR101	ORPHA:963
HP:0001182	Tapered finger	9049	AIP	ORPHA:963
HP:0001182	Tapered finger	157680	VPS13B	OMIM:216550
HP:0001182	Tapered finger	157680	VPS13B	ORPHA:193
HP:0001182	Tapered finger	2626	GATA4	ORPHA:251071
HP:0001182	Tapered finger	84823	LMNB2	OMIM:619180
HP:0001182	Tapered finger	9896	FIG4	ORPHA:3472
HP:0001182	Tapered finger	9896	FIG4	OMIM:216340
HP:0001182	Tapered finger	55697	VAC14	ORPHA:3472
HP:0001182	Tapered finger	1656	DDX6	OMIM:618653
HP:0001182	Tapered finger	4297	KMT2A	ORPHA:319182
HP:0001182	Tapered finger	4297	KMT2A	OMIM:605130
HP:0001182	Tapered finger	57178	ZMIZ1	OMIM:618659
HP:0001182	Tapered finger	2783	GNB2	OMIM:619503
HP:0001182	Tapered finger	26834	RNU4-2	OMIM:620851
HP:0001182	Tapered finger	6792	CDKL5	OMIM:300672
HP:0001182	Tapered finger	7025	NR2F1	ORPHA:401777
HP:0001182	Tapered finger	7025	NR2F1	OMIM:615722
HP:0001182	Tapered finger	253738	EBF3	OMIM:617330
HP:0001182	Tapered finger	253738	EBF3	ORPHA:96148
HP:0001182	Tapered finger	51633	OTUD6B	OMIM:617452
HP:0001182	Tapered finger	51633	OTUD6B	ORPHA:505237
HP:0001182	Tapered finger	55699	IARS2	OMIM:616007
HP:0001182	Tapered finger	57282	SLC4A10	OMIM:620746
HP:0001182	Tapered finger	8239	USP9X	ORPHA:480880
HP:0001182	Tapered finger	8239	USP9X	OMIM:300968
HP:0001182	Tapered finger	285175	UNC80	OMIM:616801
HP:0001182	Tapered finger	79753	SNIP1	OMIM:614501
HP:0001182	Tapered finger	6134	RPL10	ORPHA:459070
HP:0001182	Tapered finger	6134	RPL10	OMIM:300998
HP:0001182	Tapered finger	6134	RPL10	ORPHA:435938
HP:0001182	Tapered finger	1859	DYRK1A	ORPHA:464311
HP:0001182	Tapered finger	1859	DYRK1A	ORPHA:268261
HP:0001182	Tapered finger	1859	DYRK1A	OMIM:614104
HP:0001182	Tapered finger	55027	HEATR3	OMIM:620072
HP:0001182	Tapered finger	1303	COL12A1	ORPHA:536516
HP:0001182	Tapered finger	51611	DPH5	OMIM:620070
HP:0001182	Tapered finger	79813	EHMT1	ORPHA:261652
HP:0001182	Tapered finger	58508	KMT2C	ORPHA:261652
HP:0001182	Tapered finger	4094	MAF	ORPHA:1272
HP:0001182	Tapered finger	4094	MAF	OMIM:601088
HP:0001182	Tapered finger	7750	ZMYM2	OMIM:619522
HP:0001182	Tapered finger	5594	MAPK1	OMIM:619087
HP:0001182	Tapered finger	4849	CNOT3	OMIM:618672
HP:0001182	Tapered finger	6942	TCF20	OMIM:618430
HP:0001182	Tapered finger	81887	LAS1L	ORPHA:3459
HP:0001182	Tapered finger	81887	LAS1L	OMIM:309585
HP:0001182	Tapered finger	55869	HDAC8	ORPHA:3459
HP:0001182	Tapered finger	7140	TNNT3	OMIM:618435
HP:0001182	Tapered finger	6925	TCF4	OMIM:610954
HP:0001182	Tapered finger	6925	TCF4	ORPHA:2896
HP:0001182	Tapered finger	7030	TFE3	OMIM:301066
HP:0001182	Tapered finger	546	ATRX	OMIM:309580
HP:0001182	Tapered finger	546	ATRX	OMIM:301040
HP:0001182	Tapered finger	57479	PRR12	OMIM:619539
HP:0001182	Tapered finger	374969	SVBP	OMIM:618569
HP:0001182	Tapered finger	84295	PHF6	ORPHA:127
HP:0001182	Tapered finger	84295	PHF6	OMIM:301900
HP:0001182	Tapered finger	91252	SLC39A13	ORPHA:157965
HP:0001182	Tapered finger	91252	SLC39A13	OMIM:612350
HP:0001182	Tapered finger	1749	DLX5	OMIM:220600
HP:0001182	Tapered finger	171023	ASXL1	OMIM:605039
HP:0001182	Tapered finger	55023	PHIP	ORPHA:589905
HP:0001182	Tapered finger	55023	PHIP	OMIM:617991
HP:0001182	Tapered finger	22907	DHX30	OMIM:617804
HP:0001182	Tapered finger	10664	CTCF	OMIM:615502
HP:0001182	Tapered finger	9230	RAB11B	OMIM:617807
HP:0001182	Tapered finger	140679	SLC32A1	OMIM:620774
HP:0001182	Tapered finger	5277	PIGA	OMIM:301072
HP:0001182	Tapered finger	5277	PIGA	OMIM:300868
HP:0001182	Tapered finger	78987	CRELD1	OMIM:620771
HP:0001182	Tapered finger	389827	MYMK	OMIM:254940
HP:0001182	Tapered finger	10075	HUWE1	OMIM:309590
HP:0001182	Tapered finger	9488	PIGB	OMIM:618580
HP:0001182	Tapered finger	8243	SMC1A	OMIM:301044
HP:0001182	Tapered finger	23013	SPEN	OMIM:619312
HP:0001182	Tapered finger	56896	DPYSL5	OMIM:619435
HP:0001182	Tapered finger	23394	ADNP	OMIM:615873
HP:0001182	Tapered finger	84320	ACBD6	OMIM:620785
HP:0001182	Tapered finger	23028	KDM1A	OMIM:616728
HP:0001182	Tapered finger	23028	KDM1A	ORPHA:477993
HP:0001182	Tapered finger	5575	PRKAR1B	OMIM:619680
HP:0001182	Tapered finger	91179	SCARF2	OMIM:600920
HP:0001182	Tapered finger	6492	SIM1	ORPHA:171829
HP:0001182	Tapered finger	2782	GNB1	OMIM:616973
HP:0001182	Tapered finger	4953	ODC1	ORPHA:544488
HP:0001182	Tapered finger	998	CDC42	OMIM:616737
HP:0001182	Tapered finger	998	CDC42	ORPHA:487796
HP:0001182	Tapered finger	3097	HIVEP2	OMIM:616977
HP:0001182	Tapered finger	10982	MAPRE2	OMIM:616734
HP:0001182	Tapered finger	4131	MAP1B	OMIM:618918
HP:0001182	Tapered finger	56915	EXOSC5	OMIM:619576
HP:0001182	Tapered finger	10588	MTHFS	OMIM:618367
HP:0001182	Tapered finger	63035	BCORL1	OMIM:301029
HP:0001182	Tapered finger	10265	IRX5	OMIM:611174
HP:0001182	Tapered finger	1108	CHD4	OMIM:617159
HP:0001182	Tapered finger	91137	SLC25A46	OMIM:616505
HP:0001182	Tapered finger	8604	SLC25A12	OMIM:612949
HP:0001182	Tapered finger	7703	PCGF2	OMIM:618371
HP:0001182	Tapered finger	83696	TRAPPC9	ORPHA:352530
HP:0001182	Tapered finger	92949	ADAMTSL1	ORPHA:521445
HP:0001182	Tapered finger	860	RUNX2	ORPHA:1452
HP:0001182	Tapered finger	54551	MAGEL2	OMIM:615547
HP:0001182	Tapered finger	2697	GJA1	ORPHA:317
HP:0001182	Tapered finger	2707	GJB3	ORPHA:317
HP:0001182	Tapered finger	2531	KDSR	ORPHA:317
HP:0001182	Tapered finger	127534	GJB4	ORPHA:317
HP:0001182	Tapered finger	9244	CRLF1	OMIM:272430
HP:0001182	Tapered finger	8812	CCNK	OMIM:618147
HP:0001182	Tapered finger	112858	TP53RK	OMIM:617730
HP:0001182	Tapered finger	7204	TRIO	OMIM:618825
HP:0001182	Tapered finger	7204	TRIO	OMIM:617061
HP:0001182	Tapered finger	7204	TRIO	ORPHA:476126
HP:0001182	Tapered finger	9894	TELO2	ORPHA:488642
HP:0001182	Tapered finger	80036	TRPM3	OMIM:620224
HP:0001182	Tapered finger	8936	WASF1	OMIM:618707
HP:0001182	Tapered finger	8405	SPOP	OMIM:618829
HP:0001182	Tapered finger	23630	KCNE5	ORPHA:86818
HP:0001182	Tapered finger	2182	ACSL4	ORPHA:86818
HP:0001182	Tapered finger	9949	AMMECR1	ORPHA:86818
HP:0001182	Tapered finger	11198	SUPT16H	OMIM:619480
HP:0001182	Tapered finger	23556	PIGN	ORPHA:280633
HP:0001182	Tapered finger	23067	SETD1B	OMIM:619000
HP:0001182	Tapered finger	23233	EXOC6B	OMIM:618395
HP:0001182	Tapered finger	5075	PAX1	OMIM:615560
HP:0001182	Tapered finger	55704	CCDC88A	OMIM:617507
HP:0001182	Tapered finger	1376	CPT2	OMIM:608836
HP:0001182	Tapered finger	8242	KDM5C	ORPHA:85279
HP:0001182	Tapered finger	1315	COPB1	OMIM:619255
HP:0001182	Tapered finger	51317	PHF21A	OMIM:618725
HP:0001182	Tapered finger	1968	EIF2S3	ORPHA:85282
HP:0001182	Tapered finger	5557	PRIM1	OMIM:620005
HP:0001182	Tapered finger	1795	DOCK3	OMIM:618292
HP:0001182	Tapered finger	7543	ZFX	OMIM:301118
HP:0001182	Tapered finger	3636	INPPL1	ORPHA:2746
HP:0001182	Tapered finger	4654	MYOD1	OMIM:618975
HP:0001182	Tapered finger	11342	RNF13	ORPHA:544503
HP:0001182	Tapered finger	9990	SLC12A6	OMIM:218000
HP:0001182	Tapered finger	283450	HECTD4	OMIM:620250
HP:0009536	Short 2nd finger	9896	FIG4	OMIM:216340
HP:0009536	Short 2nd finger	658	BMPR1B	OMIM:112600
HP:0009536	Short 2nd finger	650	BMP2	OMIM:112600
HP:0009536	Short 2nd finger	8200	GDF5	OMIM:112600
HP:0009536	Short 2nd finger	8200	GDF5	OMIM:615298
HP:0009536	Short 2nd finger	8200	GDF5	OMIM:113100
HP:0009536	Short 2nd finger	2239	GPC4	ORPHA:373
HP:0009536	Short 2nd finger	2719	GPC3	ORPHA:373
HP:0009536	Short 2nd finger	2077	ERF	OMIM:617180
HP:0009536	Short 2nd finger	4212	MEIS2	OMIM:600987
HP:0009536	Short 2nd finger	10265	IRX5	OMIM:611174
HP:0009536	Short 2nd finger	1280	COL2A1	OMIM:271700
HP:0009536	Short 2nd finger	6910	TBX5	OMIM:142900
HP:0009536	Short 2nd finger	4613	MYCN	ORPHA:391641
HP:0009536	Short 2nd finger	10847	SRCAP	OMIM:136140
HP:0009536	Short 2nd finger	860	RUNX2	OMIM:119600
HP:0009536	Short 2nd finger	860	RUNX2	OMIM:156510
HP:0009536	Short 2nd finger	3239	HOXD13	ORPHA:93409
HP:0009536	Short 2nd finger	27152	INTU	OMIM:617926
HP:0009536	Short 2nd finger	56992	KIF15	ORPHA:261323
HP:0010709	2-4 finger cutaneous syndactyly	5818	NECTIN1	OMIM:225060
HP:0010709	2-4 finger cutaneous syndactyly	81607	NECTIN4	OMIM:613573
HP:0010709	2-4 finger cutaneous syndactyly	1001	CDH3	OMIM:225280
HP:0010709	2-4 finger cutaneous syndactyly	7291	TWIST1	OMIM:617746
HP:0010709	2-4 finger cutaneous syndactyly	8318	CDC45	OMIM:617063
HP:0009702	Carpal synostosis	5566	PRKACA	ORPHA:289
HP:0009702	Carpal synostosis	5567	PRKACB	ORPHA:289
HP:0009702	Carpal synostosis	2735	GLI1	ORPHA:289
HP:0009702	Carpal synostosis	2121	EVC	ORPHA:289
HP:0009702	Carpal synostosis	2121	EVC	OMIM:225500
HP:0009702	Carpal synostosis	51626	DYNC2LI1	ORPHA:289
HP:0009702	Carpal synostosis	132884	EVC2	ORPHA:289
HP:0009702	Carpal synostosis	132884	EVC2	OMIM:225500
HP:0009702	Carpal synostosis	64093	SMOC1	OMIM:206920
HP:0009702	Carpal synostosis	538	ATP7A	OMIM:304150
HP:0009702	Carpal synostosis	54928	BPNT2	OMIM:614078
HP:0009702	Carpal synostosis	64359	NXN	ORPHA:1507
HP:0009702	Carpal synostosis	4920	ROR2	ORPHA:1507
HP:0009702	Carpal synostosis	64327	LMBR1	ORPHA:988
HP:0009702	Carpal synostosis	6469	SHH	ORPHA:988
HP:0009702	Carpal synostosis	157570	ESCO2	ORPHA:3103
HP:0009702	Carpal synostosis	3209	HOXA13	ORPHA:2438
HP:0009702	Carpal synostosis	727857	BHLHA9	ORPHA:157801
HP:0009702	Carpal synostosis	9555	MACROH2A1	ORPHA:1275
HP:0009702	Carpal synostosis	5307	PITX1	ORPHA:1275
HP:0009702	Carpal synostosis	4038	LRP4	ORPHA:3258
HP:0009702	Carpal synostosis	324	APC	ORPHA:3258
HP:0009702	Carpal synostosis	2263	FGFR2	OMIM:101200
HP:0009702	Carpal synostosis	4621	MYH3	OMIM:178110
HP:0009702	Carpal synostosis	2316	FLNA	OMIM:305620
HP:0009702	Carpal synostosis	2316	FLNA	ORPHA:90652
HP:0009702	Carpal synostosis	5447	POR	OMIM:201750
HP:0009702	Carpal synostosis	9241	NOG	OMIM:186570
HP:0009702	Carpal synostosis	9241	NOG	OMIM:611377
HP:0009702	Carpal synostosis	9241	NOG	OMIM:186500
HP:0009702	Carpal synostosis	9241	NOG	OMIM:185800
HP:0009702	Carpal synostosis	85301	COL27A1	OMIM:615155
HP:0009702	Carpal synostosis	57167	SALL4	OMIM:147750
HP:0009702	Carpal synostosis	2261	FGFR3	ORPHA:53271
HP:0009702	Carpal synostosis	2317	FLNB	OMIM:272460
HP:0009702	Carpal synostosis	9939	RBM8A	OMIM:274000
HP:0009702	Carpal synostosis	22856	CHSY1	OMIM:605282
HP:0009702	Carpal synostosis	5077	PAX3	OMIM:148820
HP:0009702	Carpal synostosis	658	BMPR1B	OMIM:609441
HP:0009702	Carpal synostosis	9401	RECQL4	OMIM:218600
HP:0009702	Carpal synostosis	3239	HOXD13	OMIM:186300
HP:0009702	Carpal synostosis	6885	MAP3K7	OMIM:157800
HP:0009702	Carpal synostosis	2192	FBLN1	OMIM:608180
HP:0009702	Carpal synostosis	126792	B3GALT6	OMIM:615349
HP:0009702	Carpal synostosis	126792	B3GALT6	OMIM:271640
HP:0009702	Carpal synostosis	8200	GDF5	OMIM:610017
HP:0005790	Short mandibular condyles	5332	PLCB4	OMIM:614669
HP:0005790	Short mandibular condyles	5332	PLCB4	ORPHA:137888
HP:0005790	Short mandibular condyles	1906	EDN1	ORPHA:137888
HP:0005790	Short mandibular condyles	2773	GNAI3	ORPHA:137888
HP:0005790	Short mandibular condyles	2773	GNAI3	OMIM:602483
HP:0002540	Inability to walk	773	CACNA1A	OMIM:183086
HP:0002540	Inability to walk	4099	MAG	OMIM:616680
HP:0002540	Inability to walk	92935	MARS2	OMIM:611390
HP:0002540	Inability to walk	3094	HINT1	ORPHA:324442
HP:0002540	Inability to walk	1144	CHRND	OMIM:616321
HP:0002540	Inability to walk	2132	EXT2	OMIM:616682
HP:0002540	Inability to walk	27247	NFU1	OMIM:620938
HP:0002540	Inability to walk	4137	MAPT	ORPHA:240094
HP:0002540	Inability to walk	50484	RRM2B	ORPHA:329336
HP:0002540	Inability to walk	246243	RNASEH1	ORPHA:329336
HP:0002540	Inability to walk	246243	RNASEH1	OMIM:616479
HP:0002540	Inability to walk	53371	NUP54	OMIM:620427
HP:0002540	Inability to walk	53371	NUP54	ORPHA:225154
HP:0002540	Inability to walk	54832	VPS13C	OMIM:616840
HP:0002540	Inability to walk	2066	ERBB4	OMIM:615515
HP:0002540	Inability to walk	53616	ADAM22	OMIM:617933
HP:0002540	Inability to walk	7415	VCP	OMIM:167320
HP:0002540	Inability to walk	51117	COQ4	OMIM:620666
HP:0002540	Inability to walk	51117	COQ4	OMIM:616276
HP:0002540	Inability to walk	4758	NEU1	ORPHA:93399
HP:0002540	Inability to walk	10049	DNAJB6	OMIM:603511
HP:0002540	Inability to walk	10049	DNAJB6	ORPHA:34516
HP:0002540	Inability to walk	5339	PLEC	ORPHA:254361
HP:0002540	Inability to walk	5660	PSAP	OMIM:249900
HP:0002540	Inability to walk	2581	GALC	ORPHA:206443
HP:0002540	Inability to walk	3714	JAG2	OMIM:619566
HP:0002540	Inability to walk	729920	CRPPA	OMIM:616052
HP:0002540	Inability to walk	729920	CRPPA	ORPHA:352479
HP:0002540	Inability to walk	8893	EIF2B5	OMIM:620315
HP:0002540	Inability to walk	3145	HMBS	OMIM:620711
HP:0002540	Inability to walk	8891	EIF2B3	OMIM:620313
HP:0002540	Inability to walk	6443	SGCB	OMIM:604286
HP:0002540	Inability to walk	25885	POLR1A	OMIM:620675
HP:0002540	Inability to walk	10073	SNUPN	OMIM:620793
HP:0002540	Inability to walk	5189	PEX1	OMIM:214100
HP:0002540	Inability to walk	25778	DSTYK	OMIM:270750
HP:0002540	Inability to walk	343641	TGM6	OMIM:613908
HP:0002540	Inability to walk	79147	FKRP	ORPHA:370968
HP:0002540	Inability to walk	9215	LARGE1	ORPHA:370968
HP:0002540	Inability to walk	57190	SELENON	OMIM:602771
HP:0002540	Inability to walk	5071	PRKN	OMIM:600116
HP:0002540	Inability to walk	27235	COQ2	OMIM:607426
HP:0002540	Inability to walk	64601	VPS16	OMIM:619291
HP:0002540	Inability to walk	84340	GFM2	ORPHA:565624
HP:0002540	Inability to walk	8888	MCM3AP	OMIM:618124
HP:0002540	Inability to walk	7345	UCHL1	OMIM:615491
HP:0002540	Inability to walk	103	ADAR	OMIM:615010
HP:0002540	Inability to walk	103	ADAR	ORPHA:225154
HP:0002540	Inability to walk	64207	IRF2BPL	OMIM:618088
HP:0002540	Inability to walk	22954	TRIM32	OMIM:254110
HP:0002540	Inability to walk	4358	MPV17	OMIM:256810
HP:0002540	Inability to walk	2058	EPRS1	OMIM:617951
HP:0002540	Inability to walk	55157	DARS2	ORPHA:137898
HP:0002540	Inability to walk	51704	GPRC5B	OMIM:620447
HP:0002540	Inability to walk	4625	MYH7	OMIM:255160
HP:0002540	Inability to walk	6445	SGCG	OMIM:253700
HP:0002540	Inability to walk	2010	EMD	OMIM:310300
HP:0002540	Inability to walk	9570	GOSR2	OMIM:620166
HP:0002540	Inability to walk	9570	GOSR2	OMIM:614018
HP:0002540	Inability to walk	823	CAPN1	OMIM:616907
HP:0002540	Inability to walk	9217	VAPB	ORPHA:209335
HP:0002540	Inability to walk	9217	VAPB	OMIM:608627
HP:0002540	Inability to walk	9217	VAPB	OMIM:182980
HP:0002540	Inability to walk	51102	MECR	OMIM:617282
HP:0002540	Inability to walk	84504	NKX6-2	OMIM:617560
HP:0002540	Inability to walk	79152	FA2H	ORPHA:329308
HP:0002540	Inability to walk	83636	C19orf12	OMIM:614298
HP:0002540	Inability to walk	83636	C19orf12	OMIM:615043
HP:0002540	Inability to walk	4700	NDUFA6	OMIM:618253
HP:0002540	Inability to walk	4041	LRP5	ORPHA:2788
HP:0002540	Inability to walk	3178	HNRNPA1	OMIM:615424
HP:0002540	Inability to walk	60	ACTB	OMIM:607371
HP:0002540	Inability to walk	1201	CLN3	OMIM:204200
HP:0002540	Inability to walk	23230	VPS13A	ORPHA:2388
HP:0002540	Inability to walk	54840	APTX	OMIM:208920
HP:0002540	Inability to walk	8398	PLA2G6	OMIM:612953
HP:0002540	Inability to walk	84668	HYCC1	OMIM:610532
HP:0002540	Inability to walk	353116	RILPL1	ORPHA:98897
HP:0002540	Inability to walk	10755	GIPC1	ORPHA:98897
HP:0002540	Inability to walk	29967	LRP12	ORPHA:98897
HP:0002540	Inability to walk	100996717	NOTCH2NLC	ORPHA:98897
HP:0002540	Inability to walk	3028	HSD17B10	ORPHA:391428
HP:0002540	Inability to walk	9997	SCO2	OMIM:604377
HP:0002540	Inability to walk	55697	VAC14	OMIM:617054
HP:0002540	Inability to walk	11154	AP4S1	OMIM:614067
HP:0002540	Inability to walk	9453	GGPS1	OMIM:619518
HP:0002540	Inability to walk	90624	LYRM7	OMIM:615838
HP:0002540	Inability to walk	6606	SMN1	OMIM:253400
HP:0002540	Inability to walk	6607	SMN2	OMIM:253400
HP:0002540	Inability to walk	3181	HNRNPA2B1	OMIM:620460
HP:0002540	Inability to walk	64419	MTMR14	OMIM:160150
HP:0002540	Inability to walk	1785	DNM2	OMIM:160150
HP:0002540	Inability to walk	6305	SBF1	OMIM:615284
HP:0002540	Inability to walk	55958	KLHL9	ORPHA:399081
HP:0002540	Inability to walk	2273	FHL1	OMIM:300717
HP:0002540	Inability to walk	4076	CAPRIN1	OMIM:620636
HP:0002540	Inability to walk	219285	SAMD9L	OMIM:619806
HP:0002540	Inability to walk	9409	PEX16	OMIM:614877
HP:0002540	Inability to walk	11149	POPDC1	OMIM:616812
HP:0002540	Inability to walk	11155	LDB3	ORPHA:98912
HP:0002540	Inability to walk	10667	FARS2	ORPHA:466722
HP:0002540	Inability to walk	56652	TWNK	OMIM:271245
HP:0002540	Inability to walk	4508	MT-ATP6	ORPHA:225154
HP:0002540	Inability to walk	23636	NUP62	ORPHA:225154
HP:0002540	Inability to walk	56983	POGLUT1	OMIM:617232
HP:0002540	Inability to walk	6709	SPTAN1	OMIM:620528
HP:0002540	Inability to walk	1203	CLN5	OMIM:256731
HP:0002540	Inability to walk	6389	SDHA	ORPHA:3208
HP:0002540	Inability to walk	6390	SDHB	ORPHA:3208
HP:0002540	Inability to walk	6392	SDHD	ORPHA:3208
HP:0002540	Inability to walk	644096	SDHAF1	ORPHA:3208
HP:0002540	Inability to walk	6240	RRM1	OMIM:620647
HP:0002540	Inability to walk	1674	DES	ORPHA:98909
HP:0002540	Inability to walk	10133	OPTN	OMIM:613435
HP:0002540	Inability to walk	8799	PEX11B	OMIM:614920
HP:0002540	Inability to walk	1384	CRAT	OMIM:617917
HP:0002540	Inability to walk	85021	REPS1	OMIM:617916
HP:0002540	Inability to walk	3954	LETM1	OMIM:620089
HP:0002540	Inability to walk	5832	ALDH18A1	ORPHA:447757
HP:0002540	Inability to walk	3098	HK1	ORPHA:99953
HP:0002540	Inability to walk	57716	PRX	OMIM:614895
HP:0002540	Inability to walk	6622	SNCA	OMIM:168601
HP:0002540	Inability to walk	3156	HMGCR	OMIM:620375
HP:0002540	Inability to walk	11128	POLR3A	OMIM:607694
HP:0002540	Inability to walk	55703	POLR3B	OMIM:607694
HP:0002540	Inability to walk	2137	EXTL3	ORPHA:508533
HP:0002540	Inability to walk	3064	HTT	ORPHA:399
HP:0002540	Inability to walk	6515	SLC2A3	ORPHA:399
HP:0002540	Inability to walk	4359	MPZ	OMIM:618184
HP:0002540	Inability to walk	158	ADSL	OMIM:103050
HP:0002540	Inability to walk	91574	MTRFR	ORPHA:254930
HP:0002540	Inability to walk	29925	GMPPB	OMIM:615350
HP:0002540	Inability to walk	2775	GNAO1	OMIM:615473
HP:0002540	Inability to walk	60684	TRAPPC11	OMIM:615356
HP:0002540	Inability to walk	7355	SLC35A2	ORPHA:356961
HP:0002540	Inability to walk	9254	CACNA2D2	OMIM:618501
HP:0002540	Inability to walk	4747	NEFL	ORPHA:99939
HP:0002540	Inability to walk	4747	NEFL	ORPHA:101085
HP:0002540	Inability to walk	6326	SCN2A	ORPHA:293181
HP:0002540	Inability to walk	57468	SLC12A5	ORPHA:293181
HP:0002540	Inability to walk	57468	SLC12A5	OMIM:616645
HP:0002540	Inability to walk	23236	PLCB1	ORPHA:293181
HP:0002540	Inability to walk	3785	KCNQ2	ORPHA:293181
HP:0002540	Inability to walk	3785	KCNQ2	ORPHA:439218
HP:0002540	Inability to walk	57582	KCNT1	ORPHA:293181
HP:0002540	Inability to walk	5277	PIGA	ORPHA:293181
HP:0002540	Inability to walk	5277	PIGA	OMIM:300868
HP:0002540	Inability to walk	6323	SCN1A	ORPHA:293181
HP:0002540	Inability to walk	6323	SCN1A	OMIM:619317
HP:0002540	Inability to walk	79751	SLC25A22	ORPHA:293181
HP:0002540	Inability to walk	57465	TBC1D24	ORPHA:293181
HP:0002540	Inability to walk	1119	CHKA	OMIM:620023
HP:0002540	Inability to walk	10159	ATP6AP2	ORPHA:93952
HP:0002540	Inability to walk	9499	MYOT	ORPHA:266
HP:0002540	Inability to walk	3190	HNRNPK	ORPHA:453504
HP:0002540	Inability to walk	3190	HNRNPK	ORPHA:352665
HP:0002540	Inability to walk	8291	DYSF	ORPHA:268
HP:0002540	Inability to walk	65993	MRPS34	OMIM:617664
HP:0002540	Inability to walk	80816	ASXL3	OMIM:615485
HP:0002540	Inability to walk	80816	ASXL3	ORPHA:352577
HP:0002540	Inability to walk	2782	GNB1	ORPHA:488613
HP:0002540	Inability to walk	2782	GNB1	OMIM:616973
HP:0002540	Inability to walk	6487	ST3GAL3	OMIM:615006
HP:0002540	Inability to walk	4010	LMX1B	ORPHA:495818
HP:0002540	Inability to walk	6812	STXBP1	ORPHA:495818
HP:0002540	Inability to walk	6812	STXBP1	ORPHA:599373
HP:0002540	Inability to walk	166378	AFG2A	OMIM:616577
HP:0002540	Inability to walk	166378	AFG2A	ORPHA:457351
HP:0002540	Inability to walk	65082	VPS33A	OMIM:617303
HP:0002540	Inability to walk	65082	VPS33A	ORPHA:505248
HP:0002540	Inability to walk	472	ATM	OMIM:208900
HP:0002540	Inability to walk	5610	EIF2AK2	OMIM:618877
HP:0002540	Inability to walk	2911	GRM1	OMIM:614831
HP:0002540	Inability to walk	5689	PSMB1	OMIM:620038
HP:0002540	Inability to walk	28960	DCPS	OMIM:616459
HP:0002540	Inability to walk	23431	AP4E1	OMIM:613744
HP:0002540	Inability to walk	55768	NGLY1	ORPHA:404454
HP:0002540	Inability to walk	3908	LAMA2	ORPHA:258
HP:0002540	Inability to walk	23321	TRIM2	OMIM:615490
HP:0002540	Inability to walk	55154	MSTO1	OMIM:617675
HP:0002540	Inability to walk	8913	CACNA1G	OMIM:618087
HP:0002540	Inability to walk	215	ABCD1	ORPHA:139396
HP:0002540	Inability to walk	7343	UBTF	OMIM:617672
HP:0002540	Inability to walk	7343	UBTF	ORPHA:500180
HP:0002540	Inability to walk	6844	VAMP2	OMIM:618760
HP:0002540	Inability to walk	816	CAMK2B	OMIM:617799
HP:0002540	Inability to walk	7084	TK2	OMIM:609560
HP:0002540	Inability to walk	1759	DNM1	OMIM:616346
HP:0002540	Inability to walk	10381	TUBB3	ORPHA:300570
HP:0002540	Inability to walk	81857	MED25	ORPHA:464738
HP:0002540	Inability to walk	170825	GSX2	OMIM:618646
HP:0002540	Inability to walk	7920	ABHD16A	OMIM:619735
HP:0002540	Inability to walk	85465	SELENOI	OMIM:618768
HP:0002540	Inability to walk	10716	TBR1	OMIM:606053
HP:0002540	Inability to walk	1130	LYST	ORPHA:167
HP:0002540	Inability to walk	815	CAMK2A	OMIM:618095
HP:0002540	Inability to walk	5354	PLP1	ORPHA:280210
HP:0002540	Inability to walk	5354	PLP1	ORPHA:280234
HP:0002540	Inability to walk	5354	PLP1	ORPHA:280229
HP:0002540	Inability to walk	5354	PLP1	OMIM:312080
HP:0002540	Inability to walk	80856	LNPK	OMIM:618090
HP:0002540	Inability to walk	171023	ASXL1	ORPHA:97297
HP:0002540	Inability to walk	9839	ZEB2	ORPHA:261552
HP:0002540	Inability to walk	9839	ZEB2	ORPHA:261537
HP:0002540	Inability to walk	22872	SEC31A	OMIM:618651
HP:0002540	Inability to walk	1193	CLIC2	ORPHA:324410
HP:0002540	Inability to walk	57231	SNX14	OMIM:616354
HP:0002540	Inability to walk	84314	TMEM107	OMIM:617563
HP:0002540	Inability to walk	80208	SPG11	ORPHA:2822
HP:0002540	Inability to walk	80208	SPG11	ORPHA:300605
HP:0002540	Inability to walk	79583	TMEM231	OMIM:614970
HP:0002540	Inability to walk	51761	ATP8A2	OMIM:615268
HP:0002540	Inability to walk	93627	TBCK	ORPHA:488632
HP:0002540	Inability to walk	28514	DLL1	ORPHA:93926
HP:0002540	Inability to walk	28514	DLL1	ORPHA:93924
HP:0002540	Inability to walk	28514	DLL1	ORPHA:93925
HP:0002540	Inability to walk	28514	DLL1	ORPHA:220386
HP:0002540	Inability to walk	2253	FGF8	ORPHA:93926
HP:0002540	Inability to walk	2253	FGF8	ORPHA:93924
HP:0002540	Inability to walk	2253	FGF8	ORPHA:93925
HP:0002540	Inability to walk	2253	FGF8	ORPHA:220386
HP:0002540	Inability to walk	6496	SIX3	ORPHA:93926
HP:0002540	Inability to walk	6496	SIX3	ORPHA:93924
HP:0002540	Inability to walk	6496	SIX3	ORPHA:93925
HP:0002540	Inability to walk	6496	SIX3	ORPHA:220386
HP:0002540	Inability to walk	7050	TGIF1	ORPHA:93926
HP:0002540	Inability to walk	7050	TGIF1	ORPHA:93924
HP:0002540	Inability to walk	7050	TGIF1	ORPHA:93925
HP:0002540	Inability to walk	7050	TGIF1	ORPHA:220386
HP:0002540	Inability to walk	4838	NODAL	ORPHA:93926
HP:0002540	Inability to walk	4838	NODAL	ORPHA:93924
HP:0002540	Inability to walk	4838	NODAL	ORPHA:93925
HP:0002540	Inability to walk	4838	NODAL	ORPHA:220386
HP:0002540	Inability to walk	6469	SHH	ORPHA:93926
HP:0002540	Inability to walk	6469	SHH	ORPHA:93924
HP:0002540	Inability to walk	6469	SHH	ORPHA:93925
HP:0002540	Inability to walk	6469	SHH	ORPHA:220386
HP:0002540	Inability to walk	7546	ZIC2	ORPHA:93926
HP:0002540	Inability to walk	7546	ZIC2	ORPHA:93924
HP:0002540	Inability to walk	7546	ZIC2	ORPHA:93925
HP:0002540	Inability to walk	7546	ZIC2	ORPHA:220386
HP:0002540	Inability to walk	6491	STIL	ORPHA:93926
HP:0002540	Inability to walk	6491	STIL	ORPHA:93924
HP:0002540	Inability to walk	6491	STIL	ORPHA:93925
HP:0002540	Inability to walk	6491	STIL	ORPHA:220386
HP:0002540	Inability to walk	2619	GAS1	ORPHA:93926
HP:0002540	Inability to walk	2619	GAS1	ORPHA:93924
HP:0002540	Inability to walk	2619	GAS1	ORPHA:93925
HP:0002540	Inability to walk	2619	GAS1	ORPHA:220386
HP:0002540	Inability to walk	84976	DISP1	ORPHA:93926
HP:0002540	Inability to walk	84976	DISP1	ORPHA:93924
HP:0002540	Inability to walk	84976	DISP1	ORPHA:93925
HP:0002540	Inability to walk	84976	DISP1	ORPHA:220386
HP:0002540	Inability to walk	2736	GLI2	ORPHA:93926
HP:0002540	Inability to walk	2736	GLI2	ORPHA:93924
HP:0002540	Inability to walk	2736	GLI2	ORPHA:93925
HP:0002540	Inability to walk	2736	GLI2	ORPHA:220386
HP:0002540	Inability to walk	8928	FOXH1	ORPHA:93926
HP:0002540	Inability to walk	8928	FOXH1	ORPHA:93924
HP:0002540	Inability to walk	8928	FOXH1	ORPHA:93925
HP:0002540	Inability to walk	8928	FOXH1	ORPHA:220386
HP:0002540	Inability to walk	6997	CRIPTO	ORPHA:93926
HP:0002540	Inability to walk	6997	CRIPTO	ORPHA:93924
HP:0002540	Inability to walk	6997	CRIPTO	ORPHA:93925
HP:0002540	Inability to walk	6997	CRIPTO	ORPHA:220386
HP:0002540	Inability to walk	5727	PTCH1	ORPHA:93926
HP:0002540	Inability to walk	5727	PTCH1	ORPHA:93924
HP:0002540	Inability to walk	5727	PTCH1	ORPHA:93925
HP:0002540	Inability to walk	5727	PTCH1	ORPHA:220386
HP:0002540	Inability to walk	50937	CDON	ORPHA:93926
HP:0002540	Inability to walk	50937	CDON	ORPHA:93924
HP:0002540	Inability to walk	50937	CDON	ORPHA:93925
HP:0002540	Inability to walk	50937	CDON	ORPHA:220386
HP:0002540	Inability to walk	5376	PMP22	ORPHA:90658
HP:0002540	Inability to walk	2260	FGFR1	ORPHA:93924
HP:0002540	Inability to walk	2260	FGFR1	ORPHA:220386
HP:0002540	Inability to walk	11160	ERLIN2	OMIM:611225
HP:0002540	Inability to walk	11160	ERLIN2	ORPHA:209951
HP:0002540	Inability to walk	23007	PLCH1	ORPHA:93925
HP:0002540	Inability to walk	10735	STAG2	ORPHA:93925
HP:0002540	Inability to walk	10735	STAG2	ORPHA:220386
HP:0002540	Inability to walk	55361	PI4K2A	OMIM:620732
HP:0002540	Inability to walk	84947	SERAC1	OMIM:614739
HP:0002540	Inability to walk	26834	RNU4-2	OMIM:620851
HP:0002540	Inability to walk	2395	FXN	ORPHA:95
HP:0002540	Inability to walk	10558	SPTLC1	ORPHA:36386
HP:0002540	Inability to walk	10558	SPTLC1	ORPHA:300605
HP:0002540	Inability to walk	25923	ATL3	ORPHA:36386
HP:0002540	Inability to walk	9517	SPTLC2	ORPHA:36386
HP:0002540	Inability to walk	51062	ATL1	ORPHA:36386
HP:0002540	Inability to walk	4534	MTM1	ORPHA:596
HP:0002540	Inability to walk	1798	DPAGT1	ORPHA:86309
HP:0002540	Inability to walk	6792	CDKL5	OMIM:300672
HP:0002540	Inability to walk	6792	CDKL5	ORPHA:3095
HP:0002540	Inability to walk	5518	PPP2R1A	OMIM:616362
HP:0002540	Inability to walk	10717	AP4B1	OMIM:614066
HP:0002540	Inability to walk	388662	SLC6A17	ORPHA:457212
HP:0002540	Inability to walk	388662	SLC6A17	OMIM:616269
HP:0002540	Inability to walk	84879	MFSD2A	OMIM:616486
HP:0002540	Inability to walk	55773	TBC1D23	OMIM:617695
HP:0002540	Inability to walk	51633	OTUD6B	OMIM:617452
HP:0002540	Inability to walk	51633	OTUD6B	ORPHA:505237
HP:0002540	Inability to walk	27089	UQCRQ	OMIM:615159
HP:0002540	Inability to walk	9354	UBE4A	OMIM:619639
HP:0002540	Inability to walk	116115	ZNF526	OMIM:619877
HP:0002540	Inability to walk	285175	UNC80	OMIM:616801
HP:0002540	Inability to walk	4191	MDH2	OMIM:617339
HP:0002540	Inability to walk	6134	RPL10	ORPHA:459070
HP:0002540	Inability to walk	23345	SYNE1	ORPHA:319332
HP:0002540	Inability to walk	93210	PGAP3	OMIM:615716
HP:0002540	Inability to walk	64837	KLC2	OMIM:609541
HP:0002540	Inability to walk	80704	SLC19A3	OMIM:607483
HP:0002540	Inability to walk	83475	DOHH	OMIM:620066
HP:0002540	Inability to walk	6609	SMPD1	OMIM:257200
HP:0002540	Inability to walk	3766	KCNJ10	ORPHA:199343
HP:0002540	Inability to walk	5700	PSMC1	OMIM:620071
HP:0002540	Inability to walk	2521	FUS	ORPHA:300605
HP:0002540	Inability to walk	10280	SIGMAR1	ORPHA:300605
HP:0002540	Inability to walk	57679	ALS2	ORPHA:300605
HP:0002540	Inability to walk	54828	BCAS3	OMIM:619641
HP:0002540	Inability to walk	9276	COPB2	OMIM:619884
HP:0002540	Inability to walk	10991	SLC38A3	OMIM:619881
HP:0002540	Inability to walk	6506	SLC1A2	OMIM:617105
HP:0002540	Inability to walk	10342	TFG	ORPHA:90117
HP:0002540	Inability to walk	10342	TFG	ORPHA:431329
HP:0002540	Inability to walk	2555	GABRA2	OMIM:618557
HP:0002540	Inability to walk	3708	ITPR1	OMIM:117360
HP:0002540	Inability to walk	3708	ITPR1	OMIM:206700
HP:0002540	Inability to walk	9568	GABBR2	OMIM:617904
HP:0002540	Inability to walk	9568	GABBR2	ORPHA:3095
HP:0002540	Inability to walk	3187	HNRNPH1	OMIM:620083
HP:0002540	Inability to walk	427	ASAH1	ORPHA:2590
HP:0002540	Inability to walk	7143	TNR	OMIM:619653
HP:0002540	Inability to walk	23162	MAPK8IP3	OMIM:618443
HP:0002540	Inability to walk	197258	FCSK	OMIM:618324
HP:0002540	Inability to walk	51227	PIGP	OMIM:617599
HP:0002540	Inability to walk	50628	GEMIN4	OMIM:617913
HP:0002540	Inability to walk	122622	ADSS1	ORPHA:482601
HP:0002540	Inability to walk	2055	CLN8	ORPHA:1947
HP:0002540	Inability to walk	64116	SLC39A8	ORPHA:468699
HP:0002540	Inability to walk	64116	SLC39A8	OMIM:616721
HP:0002540	Inability to walk	81846	SBF2	ORPHA:99956
HP:0002540	Inability to walk	1487	CTBP1	OMIM:617915
HP:0002540	Inability to walk	4556	MT-TE	ORPHA:2596
HP:0002540	Inability to walk	10397	NDRG1	ORPHA:99950
HP:0002540	Inability to walk	58497	PRUNE1	OMIM:617481
HP:0002540	Inability to walk	58497	PRUNE1	ORPHA:544469
HP:0002540	Inability to walk	80025	PANK2	ORPHA:216866
HP:0002540	Inability to walk	26173	INTS1	OMIM:618571
HP:0002540	Inability to walk	55656	INTS8	OMIM:618572
HP:0002540	Inability to walk	51693	TRAPPC2L	OMIM:618331
HP:0002540	Inability to walk	4208	MEF2C	OMIM:613443
HP:0002540	Inability to walk	5813	PURA	OMIM:616158
HP:0002540	Inability to walk	22907	DHX30	OMIM:617804
HP:0002540	Inability to walk	54332	GDAP1	ORPHA:99948
HP:0002540	Inability to walk	79628	SH3TC2	ORPHA:99949
HP:0002540	Inability to walk	7407	VARS1	OMIM:617802
HP:0002540	Inability to walk	400916	CHCHD10	ORPHA:276435
HP:0002540	Inability to walk	6857	SYT1	OMIM:618218
HP:0002540	Inability to walk	10695	CNPY3	OMIM:617929
HP:0002540	Inability to walk	4000	LMNA	ORPHA:98856
HP:0002540	Inability to walk	78987	CRELD1	OMIM:620771
HP:0002540	Inability to walk	1861	TOR1A	OMIM:128100
HP:0002540	Inability to walk	54808	DYM	ORPHA:239
HP:0002540	Inability to walk	55906	ZC4H2	OMIM:301041
HP:0002540	Inability to walk	10059	DNM1L	ORPHA:330050
HP:0002540	Inability to walk	30000	TNPO2	OMIM:619556
HP:0002540	Inability to walk	23516	SLC39A14	OMIM:617013
HP:0002540	Inability to walk	8733	GPAA1	OMIM:617810
HP:0002540	Inability to walk	51412	ACTL6B	OMIM:618468
HP:0002540	Inability to walk	51412	ACTL6B	OMIM:618470
HP:0002540	Inability to walk	4703	NEB	OMIM:256030
HP:0002540	Inability to walk	6328	SCN3A	OMIM:617938
HP:0002540	Inability to walk	22854	NTNG1	ORPHA:3095
HP:0002540	Inability to walk	4204	MECP2	ORPHA:3095
HP:0002540	Inability to walk	4204	MECP2	ORPHA:778
HP:0002540	Inability to walk	4204	MECP2	OMIM:300260
HP:0002540	Inability to walk	8243	SMC1A	ORPHA:3095
HP:0002540	Inability to walk	8243	SMC1A	ORPHA:220386
HP:0002540	Inability to walk	6567	SLC16A2	OMIM:300523
HP:0002540	Inability to walk	11277	TREX1	OMIM:225750
HP:0002540	Inability to walk	116461	TSEN15	OMIM:617026
HP:0002540	Inability to walk	10659	CELF2	OMIM:619561
HP:0002540	Inability to walk	63895	PIEZO2	OMIM:617146
HP:0002540	Inability to walk	2902	GRIN1	OMIM:617820
HP:0002540	Inability to walk	2902	GRIN1	OMIM:614254
HP:0002540	Inability to walk	22880	MORC2	ORPHA:466768
HP:0002540	Inability to walk	7453	WARS1	OMIM:620317
HP:0002540	Inability to walk	5010	CLDN11	OMIM:619328
HP:0002540	Inability to walk	6513	SLC2A1	OMIM:608885
HP:0002540	Inability to walk	2561	GABRB2	OMIM:617829
HP:0002540	Inability to walk	443	ASPA	ORPHA:314911
HP:0002540	Inability to walk	2891	GRIA2	OMIM:618917
HP:0002540	Inability to walk	161725	OTUD7A	OMIM:620790
HP:0002540	Inability to walk	79158	GNPTAB	ORPHA:576
HP:0002540	Inability to walk	25929	GEMIN5	OMIM:619333
HP:0002540	Inability to walk	56915	EXOSC5	OMIM:619576
HP:0002540	Inability to walk	23221	RHOBTB2	OMIM:618004
HP:0002540	Inability to walk	55572	FOXRED1	OMIM:618241
HP:0002540	Inability to walk	9512	PMPCB	OMIM:617954
HP:0002540	Inability to walk	4915	NTRK2	OMIM:617830
HP:0002540	Inability to walk	7965	AIMP2	OMIM:618006
HP:0002540	Inability to walk	27315	PGAP2	OMIM:614207
HP:0002540	Inability to walk	29920	PYCR2	ORPHA:481152
HP:0002540	Inability to walk	29920	PYCR2	OMIM:616420
HP:0002540	Inability to walk	9361	LONP1	ORPHA:79243
HP:0002540	Inability to walk	5160	PDHA1	ORPHA:79243
HP:0002540	Inability to walk	2898	GRIK2	OMIM:619580
HP:0002540	Inability to walk	1781	DYNC1I2	OMIM:618492
HP:0002540	Inability to walk	774	CACNA1B	OMIM:618497
HP:0002540	Inability to walk	84188	FAR1	ORPHA:438178
HP:0002540	Inability to walk	54681	P4HTM	OMIM:618493
HP:0002540	Inability to walk	1822	ATN1	OMIM:618494
HP:0002540	Inability to walk	4761	NEUROD2	OMIM:618374
HP:0002540	Inability to walk	523	ATP6V1A	OMIM:618012
HP:0002540	Inability to walk	2257	FGF12	OMIM:617166
HP:0002540	Inability to walk	128637	TBC1D20	OMIM:615663
HP:0002540	Inability to walk	6304	SATB1	OMIM:619229
HP:0002540	Inability to walk	54551	MAGEL2	OMIM:615547
HP:0002540	Inability to walk	57531	HACE1	OMIM:616756
HP:0002540	Inability to walk	6611	SMS	ORPHA:3063
HP:0002540	Inability to walk	94005	PIGS	OMIM:618143
HP:0002540	Inability to walk	10815	CPLX1	OMIM:617976
HP:0002540	Inability to walk	1213	CLTC	OMIM:617854
HP:0002540	Inability to walk	22931	RAB18	OMIM:614222
HP:0002540	Inability to walk	2318	FLNC	ORPHA:63273
HP:0002540	Inability to walk	9894	TELO2	ORPHA:488642
HP:0002540	Inability to walk	85440	DOCK7	ORPHA:411986
HP:0002540	Inability to walk	56270	WDR45B	OMIM:617977
HP:0002540	Inability to walk	246329	STAC3	ORPHA:168572
HP:0002540	Inability to walk	378884	NHLRC1	ORPHA:501
HP:0002540	Inability to walk	7957	EPM2A	ORPHA:501
HP:0002540	Inability to walk	10128	LRPPRC	ORPHA:70472
HP:0002540	Inability to walk	9829	DNAJC6	ORPHA:391411
HP:0002540	Inability to walk	5420	PODXL	ORPHA:391411
HP:0002540	Inability to walk	8867	SYNJ1	ORPHA:391411
HP:0002540	Inability to walk	55210	ATAD3A	OMIM:617183
HP:0002540	Inability to walk	26503	SLC17A5	OMIM:604369
HP:0002540	Inability to walk	9325	TRIP4	OMIM:617066
HP:0002540	Inability to walk	291	SLC25A4	OMIM:617184
HP:0002540	Inability to walk	22983	MAST1	OMIM:618273
HP:0002540	Inability to walk	23287	AGTPBP1	OMIM:618276
HP:0002540	Inability to walk	79143	MBOAT7	OMIM:617188
HP:0002540	Inability to walk	92335	STRADA	OMIM:611087
HP:0002540	Inability to walk	1806	DPYD	ORPHA:1675
HP:0002540	Inability to walk	2893	GRIA4	OMIM:617864
HP:0002540	Inability to walk	23204	ARL6IP1	OMIM:615685
HP:0002540	Inability to walk	6509	SLC1A4	OMIM:616657
HP:0002540	Inability to walk	54676	GTPBP2	OMIM:617988
HP:0002540	Inability to walk	8911	CACNA1I	OMIM:620114
HP:0002540	Inability to walk	84628	NTNG2	OMIM:618718
HP:0002540	Inability to walk	6904	TBCD	OMIM:617193
HP:0002540	Inability to walk	777	CACNA1E	OMIM:618285
HP:0002540	Inability to walk	9197	SLC33A1	OMIM:614482
HP:0002540	Inability to walk	1315	COPB1	OMIM:619255
HP:0002540	Inability to walk	29954	POMT2	OMIM:613156
HP:0002540	Inability to walk	29954	POMT2	ORPHA:206559
HP:0002540	Inability to walk	10585	POMT1	OMIM:613155
HP:0002540	Inability to walk	2733	GLE1	OMIM:611890
HP:0002540	Inability to walk	738	VPS51	OMIM:618606
HP:0002540	Inability to walk	2806	GOT2	OMIM:618721
HP:0002540	Inability to walk	25913	POT1	OMIM:620368
HP:0002540	Inability to walk	5479	PPIB	OMIM:259440
HP:0002540	Inability to walk	2639	GCDH	OMIM:231670
HP:0002540	Inability to walk	1678	TIMM8A	ORPHA:52368
HP:0002540	Inability to walk	129285	PPP1R21	OMIM:619383
HP:0002540	Inability to walk	27072	VPS41	OMIM:619389
HP:0002540	Inability to walk	1968	EIF2S3	OMIM:300148
HP:0002540	Inability to walk	56947	MFF	OMIM:617086
HP:0002540	Inability to walk	1496	CTNNA2	OMIM:618174
HP:0002540	Inability to walk	8803	SUCLA2	OMIM:612073
HP:0002540	Inability to walk	547	KIF1A	OMIM:614255
HP:0002540	Inability to walk	55753	OGDHL	OMIM:619701
HP:0002540	Inability to walk	9935	MAFB	OMIM:166300
HP:0002540	Inability to walk	1756	DMD	ORPHA:206546
HP:0002540	Inability to walk	9990	SLC12A6	OMIM:218000
HP:0002540	Inability to walk	90952	ESAM	OMIM:620371
HP:0002540	Inability to walk	10479	SLC9A6	OMIM:300243
HP:0002540	Inability to walk	80036	TRPM3	OMIM:620224
HP:0002540	Inability to walk	9927	MFN2	ORPHA:99947
HP:0002540	Inability to walk	51218	GLRX5	ORPHA:401866
HP:0011448	Ankle clonus	11160	ERLIN2	ORPHA:280384
HP:0011448	Ankle clonus	11160	ERLIN2	ORPHA:209951
HP:0011448	Ankle clonus	11160	ERLIN2	OMIM:620512
HP:0011448	Ankle clonus	11160	ERLIN2	OMIM:611225
HP:0011448	Ankle clonus	85465	SELENOI	ORPHA:506353
HP:0011448	Ankle clonus	85465	SELENOI	OMIM:618768
HP:0011448	Ankle clonus	51062	ATL1	ORPHA:100984
HP:0011448	Ankle clonus	23111	SPART	OMIM:275900
HP:0011448	Ankle clonus	23111	SPART	ORPHA:101000
HP:0011448	Ankle clonus	4728	NDUFS8	OMIM:618222
HP:0011448	Ankle clonus	55697	VAC14	OMIM:617054
HP:0011448	Ankle clonus	56006	SMG9	OMIM:619995
HP:0011448	Ankle clonus	10159	ATP6AP2	ORPHA:363654
HP:0011448	Ankle clonus	6683	SPAST	ORPHA:100985
HP:0011448	Ankle clonus	51604	PIGT	OMIM:615398
HP:0011448	Ankle clonus	9420	CYP7B1	ORPHA:100986
HP:0011448	Ankle clonus	23516	SLC39A14	OMIM:617013
HP:0011448	Ankle clonus	23516	SLC39A14	ORPHA:521406
HP:0011448	Ankle clonus	23345	SYNE1	ORPHA:88644
HP:0011448	Ankle clonus	27247	NFU1	OMIM:620938
HP:0011448	Ankle clonus	22931	RAB18	OMIM:614222
HP:0011448	Ankle clonus	1593	CYP27A1	OMIM:213700
HP:0011448	Ankle clonus	3839	KPNA3	OMIM:620106
HP:0011448	Ankle clonus	2653	GCSH	OMIM:620423
HP:0011448	Ankle clonus	51117	COQ4	OMIM:620666
HP:0011448	Ankle clonus	959	CD40LG	OMIM:308230
HP:0011448	Ankle clonus	64837	KLC2	OMIM:609541
HP:0011448	Ankle clonus	2258	FGF13	OMIM:301058
HP:0011448	Ankle clonus	440193	CCDC88C	OMIM:616053
HP:0011448	Ankle clonus	6647	SOD1	OMIM:618598
HP:0011448	Ankle clonus	10613	ERLIN1	OMIM:615681
HP:0011448	Ankle clonus	6253	RTN2	OMIM:604805
HP:0011448	Ankle clonus	84340	GFM2	OMIM:618397
HP:0011448	Ankle clonus	84340	GFM2	ORPHA:565624
HP:0011448	Ankle clonus	79152	FA2H	ORPHA:171629
HP:0011448	Ankle clonus	79152	FA2H	OMIM:612319
HP:0011448	Ankle clonus	10273	STUB1	OMIM:615768
HP:0011448	Ankle clonus	10273	STUB1	ORPHA:412057
HP:0011448	Ankle clonus	9409	PEX16	OMIM:614877
HP:0011448	Ankle clonus	6509	SLC1A4	OMIM:616657
HP:0011448	Ankle clonus	547	KIF1A	OMIM:610357
HP:0011448	Ankle clonus	9338	TCEAL1	OMIM:301094
HP:0011448	Ankle clonus	80208	SPG11	OMIM:604360
HP:0011448	Ankle clonus	5456	POU3F4	ORPHA:1435
HP:0011448	Ankle clonus	55129	ANO10	ORPHA:284289
HP:0011448	Ankle clonus	16	AARS1	OMIM:619691
HP:0011448	Ankle clonus	219285	SAMD9L	OMIM:159550
HP:0011448	Ankle clonus	9289	ADGRG1	OMIM:606854
HP:0011448	Ankle clonus	7345	UCHL1	OMIM:615491
HP:0011448	Ankle clonus	215	ABCD1	ORPHA:139396
HP:0011448	Ankle clonus	3064	HTT	OMIM:617435
HP:0011448	Ankle clonus	7415	VCP	OMIM:613954
HP:0011448	Ankle clonus	57704	GBA2	OMIM:614409
HP:0011448	Ankle clonus	4141	MARS1	OMIM:620323
HP:0011448	Ankle clonus	2581	GALC	ORPHA:206436
HP:0011448	Ankle clonus	5660	PSAP	ORPHA:206436
HP:0011448	Ankle clonus	823	CAPN1	OMIM:616907
HP:0011448	Ankle clonus	823	CAPN1	ORPHA:488594
HP:0011448	Ankle clonus	1678	TIMM8A	ORPHA:52368
HP:0011448	Ankle clonus	6567	SLC16A2	ORPHA:59
HP:0011448	Ankle clonus	6712	SPTBN2	OMIM:600224
HP:0011448	Ankle clonus	3798	KIF5A	ORPHA:100991
HP:0011448	Ankle clonus	3798	KIF5A	OMIM:604187
HP:0011448	Ankle clonus	5297	PI4KA	OMIM:619621
HP:0011448	Ankle clonus	22978	NT5C2	OMIM:613162
HP:0011448	Ankle clonus	833	CARS1	OMIM:618891
HP:0011448	Ankle clonus	65055	REEP1	OMIM:610250
HP:0011448	Ankle clonus	10749	KIF1C	OMIM:611302
HP:0011448	Ankle clonus	8398	PLA2G6	OMIM:612953
HP:0011448	Ankle clonus	113278	SLC52A3	OMIM:211530
HP:0011448	Ankle clonus	9900	SV2A	OMIM:620772
HP:0002544	Retrocollis	57679	ALS2	OMIM:205100
HP:0002544	Retrocollis	57679	ALS2	ORPHA:300605
HP:0002544	Retrocollis	8575	PRKRA	OMIM:612067
HP:0002544	Retrocollis	2521	FUS	ORPHA:300605
HP:0002544	Retrocollis	80208	SPG11	ORPHA:300605
HP:0002544	Retrocollis	10280	SIGMAR1	ORPHA:300605
HP:0002544	Retrocollis	10558	SPTLC1	ORPHA:300605
HP:0002544	Retrocollis	9256	TSPOAP1	OMIM:620456
HP:0002544	Retrocollis	4137	MAPT	OMIM:601104
HP:0002544	Retrocollis	9757	KMT2B	OMIM:617284
HP:0002545	Patchy demyelination of subcortical white matter	2074	ERCC6	OMIM:133540
HP:0002545	Patchy demyelination of subcortical white matter	2074	ERCC6	ORPHA:90322
HP:0002545	Patchy demyelination of subcortical white matter	1161	ERCC8	OMIM:216400
HP:0002545	Patchy demyelination of subcortical white matter	1161	ERCC8	ORPHA:90322
HP:0002545	Patchy demyelination of subcortical white matter	2067	ERCC1	ORPHA:90322
HP:0002546	Incomprehensible speech	27286	SRPX2	ORPHA:163721
HP:0002546	Incomprehensible speech	2903	GRIN2A	ORPHA:163721
HP:0002546	Incomprehensible speech	23314	SATB2	ORPHA:251019
HP:0002546	Incomprehensible speech	10730	YME1L1	OMIM:617302
HP:0002546	Incomprehensible speech	57459	GATAD2B	ORPHA:363686
HP:0002546	Incomprehensible speech	93986	FOXP2	ORPHA:209908
HP:0002546	Incomprehensible speech	93986	FOXP2	OMIM:602081
HP:0002546	Incomprehensible speech	54862	CC2D1A	OMIM:608443
HP:0002546	Incomprehensible speech	2395	FXN	ORPHA:95
HP:0003445	EMG: neuropathic changes	5660	PSAP	ORPHA:309271
HP:0003445	EMG: neuropathic changes	5660	PSAP	ORPHA:309256
HP:0003445	EMG: neuropathic changes	5660	PSAP	ORPHA:309263
HP:0003445	EMG: neuropathic changes	427	ASAH1	ORPHA:333
HP:0003445	EMG: neuropathic changes	4358	MPV17	OMIM:618400
HP:0003445	EMG: neuropathic changes	3094	HINT1	ORPHA:324442
HP:0003445	EMG: neuropathic changes	57679	ALS2	OMIM:205100
HP:0003445	EMG: neuropathic changes	81545	FBXO38	OMIM:615575
HP:0003445	EMG: neuropathic changes	50717	DCAF8	OMIM:610100
HP:0003445	EMG: neuropathic changes	5631	PRPS1	ORPHA:1187
HP:0003445	EMG: neuropathic changes	55681	SCYL2	ORPHA:1143
HP:0003445	EMG: neuropathic changes	84570	COL25A1	ORPHA:1143
HP:0003445	EMG: neuropathic changes	57222	ERGIC1	ORPHA:1143
HP:0003445	EMG: neuropathic changes	93627	TBCK	OMIM:616900
HP:0003445	EMG: neuropathic changes	93627	TBCK	ORPHA:488632
HP:0003445	EMG: neuropathic changes	9997	SCO2	ORPHA:521411
HP:0003445	EMG: neuropathic changes	8398	PLA2G6	ORPHA:35069
HP:0003445	EMG: neuropathic changes	8398	PLA2G6	OMIM:256600
HP:0003445	EMG: neuropathic changes	6607	SMN2	OMIM:253400
HP:0003445	EMG: neuropathic changes	6687	SPG7	ORPHA:35689
HP:0003445	EMG: neuropathic changes	6905	TBCE	ORPHA:496756
HP:0003445	EMG: neuropathic changes	79628	SH3TC2	ORPHA:99949
HP:0003445	EMG: neuropathic changes	9927	MFN2	ORPHA:99947
HP:0003445	EMG: neuropathic changes	9990	SLC12A6	OMIM:218000
HP:0003445	EMG: neuropathic changes	4976	OPA1	ORPHA:1215
HP:0003445	EMG: neuropathic changes	1200	TPP1	ORPHA:284324
HP:0003445	EMG: neuropathic changes	87178	PNPT1	ORPHA:101111
HP:0003445	EMG: neuropathic changes	3315	HSPB1	OMIM:608634
HP:0003445	EMG: neuropathic changes	3315	HSPB1	ORPHA:99940
HP:0003445	EMG: neuropathic changes	1778	DYNC1H1	OMIM:158600
HP:0003445	EMG: neuropathic changes	23345	SYNE1	ORPHA:88644
HP:0003445	EMG: neuropathic changes	8988	HSPB3	OMIM:613376
HP:0003445	EMG: neuropathic changes	7317	UBA1	ORPHA:1145
HP:0003445	EMG: neuropathic changes	4744	NEFH	OMIM:616924
HP:0003445	EMG: neuropathic changes	7415	VCP	ORPHA:329475
HP:0003445	EMG: neuropathic changes	7415	VCP	ORPHA:52430
HP:0003445	EMG: neuropathic changes	6606	SMN1	OMIM:271150
HP:0003445	EMG: neuropathic changes	6606	SMN1	OMIM:253300
HP:0003445	EMG: neuropathic changes	4703	NEB	OMIM:256030
HP:0003445	EMG: neuropathic changes	58	ACTA1	OMIM:161800
HP:0003445	EMG: neuropathic changes	9217	VAPB	ORPHA:209335
HP:0003445	EMG: neuropathic changes	9217	VAPB	OMIM:182980
HP:0003445	EMG: neuropathic changes	200205	IBA57	ORPHA:468661
HP:0003445	EMG: neuropathic changes	538	ATP7A	OMIM:300489
HP:0003445	EMG: neuropathic changes	10528	NOP56	OMIM:614153
HP:0003445	EMG: neuropathic changes	80208	SPG11	ORPHA:2822
HP:0003445	EMG: neuropathic changes	57449	PLEKHG5	OMIM:611067
HP:0003445	EMG: neuropathic changes	23230	VPS13A	ORPHA:2388
HP:0003445	EMG: neuropathic changes	400916	CHCHD10	ORPHA:276435
HP:0003445	EMG: neuropathic changes	2705	GJB1	ORPHA:1175
HP:0003445	EMG: neuropathic changes	5376	PMP22	ORPHA:98916
HP:0003445	EMG: neuropathic changes	7443	VRK1	OMIM:607596
HP:0003445	EMG: neuropathic changes	3508	IGHMBP2	OMIM:604320
HP:0003445	EMG: neuropathic changes	26353	HSPB8	OMIM:158590
HP:0003445	EMG: neuropathic changes	3178	HNRNPA1	ORPHA:52430
HP:0003445	EMG: neuropathic changes	3181	HNRNPA2B1	ORPHA:52430
HP:0003445	EMG: neuropathic changes	410	ARSA	OMIM:250100
HP:0003445	EMG: neuropathic changes	54332	GDAP1	OMIM:608340
HP:0003445	EMG: neuropathic changes	203859	ANO5	ORPHA:206549
HP:0003445	EMG: neuropathic changes	4625	MYH7	OMIM:160500
HP:0003445	EMG: neuropathic changes	11155	LDB3	OMIM:609452
HP:0003445	EMG: neuropathic changes	8729	GBF1	OMIM:606483
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	5660	PSAP	OMIM:619491
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	7054	TH	OMIM:605407
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	10846	PDE10A	ORPHA:494541
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	2643	GCH1	OMIM:128230
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	26058	GIGYF2	OMIM:607688
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	26058	GIGYF2	ORPHA:411602
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	8398	PLA2G6	ORPHA:199351
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	7384	UQCRC1	OMIM:619279
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	4137	MAPT	ORPHA:240071
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	4137	MAPT	ORPHA:240085
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	4137	MAPT	ORPHA:240103
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	120892	LRRK2	OMIM:607060
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	120892	LRRK2	ORPHA:411602
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	54832	VPS13C	OMIM:616840
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	2629	GBA1	ORPHA:411602
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	23317	DNAJC13	ORPHA:411602
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	1981	EIF4G1	ORPHA:411602
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	55737	VPS35	ORPHA:411602
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	6622	SNCA	ORPHA:411602
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	116442	RAB39B	OMIM:311510
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	6872	TAF1	ORPHA:53351
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	6872	TAF1	OMIM:314250
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	23400	ATP13A2	OMIM:606693
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	23400	ATP13A2	ORPHA:314632
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	5524	PTPA	OMIM:620482
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	5428	POLG	OMIM:157640
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	5428	POLG	ORPHA:254886
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	11315	PARK7	OMIM:606324
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	7084	TK2	ORPHA:254886
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	25793	FBXO7	OMIM:260300
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	51142	CHCHD2	OMIM:616710
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	27429	HTRA2	OMIM:610297
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	7345	UCHL1	OMIM:613643
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	540	ATP7B	OMIM:277900
HP:0002549	Deficit in phonologic short-term memory	50484	RRM2B	ORPHA:329336
HP:0002549	Deficit in phonologic short-term memory	246243	RNASEH1	ORPHA:329336
HP:0002549	Deficit in phonologic short-term memory	5621	PRNP	ORPHA:280397
HP:0002549	Deficit in phonologic short-term memory	4137	MAPT	ORPHA:240112
HP:0002549	Deficit in phonologic short-term memory	2934	GSN	ORPHA:85448
HP:0020123	Tympanosclerosis	326	AIRE	OMIM:240300
HP:0020122	Bite cells	3783	KCNN4	OMIM:616689
HP:0020122	Bite cells	146059	CDAN1	OMIM:224120
HP:0020125	Spontaneous conjunctival filtering bleb	444	ASPH	OMIM:601552
HP:0020127	Periarticular soft-tissue mass	3373	HYAL1	OMIM:601492
HP:0020129	Abnormal urine protein level	1497	CTNS	OMIM:219800
HP:0020129	Abnormal urine protein level	1497	CTNS	OMIM:219900
HP:0020129	Abnormal urine protein level	1497	CTNS	ORPHA:411634
HP:0020129	Abnormal urine protein level	25970	SH2B1	ORPHA:261222
HP:0020129	Abnormal urine protein level	4574	MT-TS1	OMIM:220110
HP:0020129	Abnormal urine protein level	4574	MT-TS1	ORPHA:550
HP:0020129	Abnormal urine protein level	4570	MT-TN	OMIM:220110
HP:0020129	Abnormal urine protein level	6834	SURF1	OMIM:220110
HP:0020129	Abnormal urine protein level	2132	EXT2	OMIM:616682
HP:0020129	Abnormal urine protein level	8029	CUBN	OMIM:261100
HP:0020129	Abnormal urine protein level	8029	CUBN	ORPHA:35858
HP:0020129	Abnormal urine protein level	8029	CUBN	OMIM:618884
HP:0020129	Abnormal urine protein level	4010	LMX1B	ORPHA:2613
HP:0020129	Abnormal urine protein level	4010	LMX1B	ORPHA:2614
HP:0020129	Abnormal urine protein level	4010	LMX1B	OMIM:161200
HP:0020129	Abnormal urine protein level	4010	LMX1B	OMIM:256020
HP:0020129	Abnormal urine protein level	55654	TMEM127	OMIM:171300
HP:0020129	Abnormal urine protein level	55654	TMEM127	ORPHA:29072
HP:0020129	Abnormal urine protein level	4149	MAX	OMIM:171300
HP:0020129	Abnormal urine protein level	4149	MAX	ORPHA:29072
HP:0020129	Abnormal urine protein level	5979	RET	OMIM:171300
HP:0020129	Abnormal urine protein level	5979	RET	ORPHA:276621
HP:0020129	Abnormal urine protein level	5979	RET	ORPHA:29072
HP:0020129	Abnormal urine protein level	7428	VHL	OMIM:171300
HP:0020129	Abnormal urine protein level	7428	VHL	ORPHA:276621
HP:0020129	Abnormal urine protein level	7428	VHL	ORPHA:29072
HP:0020129	Abnormal urine protein level	84334	COA8	ORPHA:436271
HP:0020129	Abnormal urine protein level	84942	WDR73	OMIM:251300
HP:0020129	Abnormal urine protein level	84942	WDR73	ORPHA:2065
HP:0020129	Abnormal urine protein level	4758	NEU1	OMIM:256550
HP:0020129	Abnormal urine protein level	51816	ADA2	ORPHA:820
HP:0020129	Abnormal urine protein level	2542	SLC37A4	OMIM:232220
HP:0020129	Abnormal urine protein level	2542	SLC37A4	OMIM:232240
HP:0020129	Abnormal urine protein level	2542	SLC37A4	ORPHA:79259
HP:0020129	Abnormal urine protein level	1161	ERCC8	ORPHA:90321
HP:0020129	Abnormal urine protein level	1161	ERCC8	OMIM:216400
HP:0020129	Abnormal urine protein level	2072	ERCC4	ORPHA:90321
HP:0020129	Abnormal urine protein level	2072	ERCC4	OMIM:610965
HP:0020129	Abnormal urine protein level	2074	ERCC6	ORPHA:90321
HP:0020129	Abnormal urine protein level	2074	ERCC6	OMIM:133540
HP:0020129	Abnormal urine protein level	23607	CD2AP	OMIM:607832
HP:0020129	Abnormal urine protein level	23607	CD2AP	ORPHA:656
HP:0020129	Abnormal urine protein level	396	ARHGDIA	OMIM:615244
HP:0020129	Abnormal urine protein level	396	ARHGDIA	ORPHA:656
HP:0020129	Abnormal urine protein level	3162	HMOX1	OMIM:614034
HP:0020129	Abnormal urine protein level	25959	KANK2	OMIM:617783
HP:0020129	Abnormal urine protein level	65082	VPS33A	OMIM:617303
HP:0020129	Abnormal urine protein level	65082	VPS33A	ORPHA:505248
HP:0020129	Abnormal urine protein level	10686	CLDN16	OMIM:248250
HP:0020129	Abnormal urine protein level	9968	MED12	ORPHA:2728
HP:0020129	Abnormal urine protein level	8526	DGKE	OMIM:615008
HP:0020129	Abnormal urine protein level	79693	YRDC	OMIM:619609
HP:0020129	Abnormal urine protein level	79693	YRDC	ORPHA:2065
HP:0020129	Abnormal urine protein level	4868	NPHS1	OMIM:256300
HP:0020129	Abnormal urine protein level	4868	NPHS1	ORPHA:839
HP:0020129	Abnormal urine protein level	4868	NPHS1	ORPHA:656
HP:0020129	Abnormal urine protein level	81693	AMN	ORPHA:35858
HP:0020129	Abnormal urine protein level	81693	AMN	OMIM:618882
HP:0020129	Abnormal urine protein level	10559	SLC35A1	OMIM:603585
HP:0020129	Abnormal urine protein level	7827	NPHS2	OMIM:600995
HP:0020129	Abnormal urine protein level	7827	NPHS2	ORPHA:656
HP:0020129	Abnormal urine protein level	1777	DNASE2	OMIM:619858
HP:0020129	Abnormal urine protein level	2538	G6PC1	OMIM:232200
HP:0020129	Abnormal urine protein level	6773	STAT2	OMIM:618886
HP:0020129	Abnormal urine protein level	1801	DPH1	OMIM:616901
HP:0020129	Abnormal urine protein level	84823	LMNB2	ORPHA:79087
HP:0020129	Abnormal urine protein level	84823	LMNB2	OMIM:608709
HP:0020129	Abnormal urine protein level	1788	DNMT3A	ORPHA:276621
HP:0020129	Abnormal urine protein level	2034	EPAS1	ORPHA:276621
HP:0020129	Abnormal urine protein level	6392	SDHD	ORPHA:276621
HP:0020129	Abnormal urine protein level	6392	SDHD	ORPHA:29072
HP:0020129	Abnormal urine protein level	6390	SDHB	ORPHA:276621
HP:0020129	Abnormal urine protein level	6390	SDHB	ORPHA:29072
HP:0020129	Abnormal urine protein level	83480	PUS3	ORPHA:488627
HP:0020129	Abnormal urine protein level	7490	WT1	OMIM:136680
HP:0020129	Abnormal urine protein level	7490	WT1	ORPHA:347
HP:0020129	Abnormal urine protein level	7490	WT1	ORPHA:220
HP:0020129	Abnormal urine protein level	7490	WT1	ORPHA:656
HP:0020129	Abnormal urine protein level	63894	VIPAS39	OMIM:613404
HP:0020129	Abnormal urine protein level	4036	LRP2	ORPHA:2143
HP:0020129	Abnormal urine protein level	4036	LRP2	OMIM:222448
HP:0020129	Abnormal urine protein level	950	SCARB2	OMIM:254900
HP:0020129	Abnormal urine protein level	54	ACP5	ORPHA:1855
HP:0020129	Abnormal urine protein level	5373	PMM2	OMIM:212065
HP:0020129	Abnormal urine protein level	5373	PMM2	ORPHA:79318
HP:0020129	Abnormal urine protein level	2243	FGA	OMIM:105200
HP:0020129	Abnormal urine protein level	9056	SLC7A7	ORPHA:470
HP:0020129	Abnormal urine protein level	116085	SLC22A12	OMIM:220150
HP:0020129	Abnormal urine protein level	5972	REN	OMIM:613092
HP:0020129	Abnormal urine protein level	8879	SGPL1	OMIM:617575
HP:0020129	Abnormal urine protein level	11277	TREX1	OMIM:192315
HP:0020129	Abnormal urine protein level	11277	TREX1	ORPHA:247691
HP:0020129	Abnormal urine protein level	11277	TREX1	ORPHA:536
HP:0020129	Abnormal urine protein level	5076	PAX2	OMIM:616002
HP:0020129	Abnormal urine protein level	5076	PAX2	ORPHA:97362
HP:0020129	Abnormal urine protein level	5076	PAX2	ORPHA:656
HP:0020129	Abnormal urine protein level	5076	PAX2	OMIM:120330
HP:0020129	Abnormal urine protein level	1743	DLST	ORPHA:29072
HP:0020129	Abnormal urine protein level	4191	MDH2	ORPHA:29072
HP:0020129	Abnormal urine protein level	6389	SDHA	ORPHA:29072
HP:0020129	Abnormal urine protein level	23095	KIF1B	ORPHA:29072
HP:0020129	Abnormal urine protein level	2271	FH	ORPHA:29072
HP:0020129	Abnormal urine protein level	8402	SLC25A11	ORPHA:29072
HP:0020129	Abnormal urine protein level	54949	SDHAF2	ORPHA:29072
HP:0020129	Abnormal urine protein level	4763	NF1	ORPHA:29072
HP:0020129	Abnormal urine protein level	6391	SDHC	ORPHA:29072
HP:0020129	Abnormal urine protein level	2321	FLT1	ORPHA:275555
HP:0020129	Abnormal urine protein level	219736	STOX1	ORPHA:275555
HP:0020129	Abnormal urine protein level	10699	CORIN	ORPHA:275555
HP:0020129	Abnormal urine protein level	6804	STX1A	ORPHA:904
HP:0020129	Abnormal urine protein level	7461	CLIP2	ORPHA:904
HP:0020129	Abnormal urine protein level	84277	DNAJC30	ORPHA:904
HP:0020129	Abnormal urine protein level	8468	FKBP6	ORPHA:904
HP:0020129	Abnormal urine protein level	5982	RFC2	ORPHA:904
HP:0020129	Abnormal urine protein level	2969	GTF2I	ORPHA:904
HP:0020129	Abnormal urine protein level	3984	LIMK1	ORPHA:904
HP:0020129	Abnormal urine protein level	9569	GTF2IRD1	ORPHA:904
HP:0020129	Abnormal urine protein level	155382	VPS37D	ORPHA:904
HP:0020129	Abnormal urine protein level	155368	METTL27	ORPHA:904
HP:0020129	Abnormal urine protein level	114049	BUD23	ORPHA:904
HP:0020129	Abnormal urine protein level	7458	EIF4H	ORPHA:904
HP:0020129	Abnormal urine protein level	84163	GTF2IRD2	ORPHA:904
HP:0020129	Abnormal urine protein level	26608	TBL2	ORPHA:904
HP:0020129	Abnormal urine protein level	653361	NCF1	ORPHA:904
HP:0020129	Abnormal urine protein level	135886	TMEM270	ORPHA:904
HP:0020129	Abnormal urine protein level	9031	BAZ1B	ORPHA:904
HP:0020129	Abnormal urine protein level	2006	ELN	ORPHA:904
HP:0020129	Abnormal urine protein level	1493	CTLA4	ORPHA:900
HP:0020129	Abnormal urine protein level	1493	CTLA4	ORPHA:536
HP:0020129	Abnormal urine protein level	26191	PTPN22	ORPHA:900
HP:0020129	Abnormal urine protein level	26191	PTPN22	ORPHA:536
HP:0020129	Abnormal urine protein level	3115	HLA-DPB1	ORPHA:900
HP:0020129	Abnormal urine protein level	5657	PRTN3	ORPHA:900
HP:0020129	Abnormal urine protein level	3113	HLA-DPA1	ORPHA:900
HP:0020129	Abnormal urine protein level	3675	ITGA3	OMIM:614748
HP:0020129	Abnormal urine protein level	4210	MEFV	ORPHA:342
HP:0020129	Abnormal urine protein level	4210	MEFV	OMIM:134610
HP:0020129	Abnormal urine protein level	3931	LCAT	OMIM:245900
HP:0020129	Abnormal urine protein level	4094	MAF	ORPHA:1272
HP:0020129	Abnormal urine protein level	2934	GSN	ORPHA:85448
HP:0020129	Abnormal urine protein level	3913	LAMB2	OMIM:614199
HP:0020129	Abnormal urine protein level	3913	LAMB2	OMIM:609049
HP:0020129	Abnormal urine protein level	5800	PTPRO	OMIM:614196
HP:0020129	Abnormal urine protein level	5800	PTPRO	ORPHA:656
HP:0020129	Abnormal urine protein level	6288	SAA1	ORPHA:85445
HP:0020129	Abnormal urine protein level	50485	SMARCAL1	ORPHA:1830
HP:0020129	Abnormal urine protein level	50485	SMARCAL1	OMIM:242900
HP:0020129	Abnormal urine protein level	8481	OFD1	OMIM:311200
HP:0020129	Abnormal urine protein level	8481	OFD1	ORPHA:2750
HP:0020129	Abnormal urine protein level	10253	SPRY2	OMIM:616818
HP:0020129	Abnormal urine protein level	540	ATP7B	OMIM:277900
HP:0020129	Abnormal urine protein level	4846	NOS3	OMIM:189800
HP:0020129	Abnormal urine protein level	7369	UMOD	OMIM:162000
HP:0020129	Abnormal urine protein level	2717	GLA	OMIM:301500
HP:0020129	Abnormal urine protein level	2717	GLA	ORPHA:324
HP:0020129	Abnormal urine protein level	3172	HNF4A	OMIM:616026
HP:0020129	Abnormal urine protein level	3172	HNF4A	ORPHA:263455
HP:0020129	Abnormal urine protein level	25836	NIPBL	OMIM:122470
HP:0020129	Abnormal urine protein level	2303	FOXC2	ORPHA:33001
HP:0020129	Abnormal urine protein level	5836	PYGL	ORPHA:369
HP:0020129	Abnormal urine protein level	51196	PLCE1	OMIM:610725
HP:0020129	Abnormal urine protein level	51196	PLCE1	ORPHA:656
HP:0020129	Abnormal urine protein level	2629	GBA1	ORPHA:77261
HP:0020129	Abnormal urine protein level	54443	ANLN	OMIM:616032
HP:0020129	Abnormal urine protein level	54443	ANLN	ORPHA:656
HP:0020129	Abnormal urine protein level	51004	COQ6	OMIM:614650
HP:0020129	Abnormal urine protein level	7535	ZAP70	OMIM:617006
HP:0020129	Abnormal urine protein level	4069	LYZ	OMIM:620658
HP:0020129	Abnormal urine protein level	57107	PDSS2	OMIM:614652
HP:0020129	Abnormal urine protein level	335	APOA1	OMIM:620657
HP:0020129	Abnormal urine protein level	1285	COL4A3	OMIM:620536
HP:0020129	Abnormal urine protein level	1285	COL4A3	ORPHA:656
HP:0020129	Abnormal urine protein level	1285	COL4A3	OMIM:620320
HP:0020129	Abnormal urine protein level	1285	COL4A3	OMIM:104200
HP:0020129	Abnormal urine protein level	81603	TRIM8	OMIM:619428
HP:0020129	Abnormal urine protein level	1188	CLCNKB	ORPHA:358
HP:0020129	Abnormal urine protein level	6559	SLC12A3	ORPHA:358
HP:0020129	Abnormal urine protein level	1288	COL4A6	ORPHA:1018
HP:0020129	Abnormal urine protein level	1287	COL4A5	ORPHA:1018
HP:0020129	Abnormal urine protein level	1287	COL4A5	OMIM:301050
HP:0020129	Abnormal urine protein level	4558	MT-TF	ORPHA:550
HP:0020129	Abnormal urine protein level	4572	MT-TQ	ORPHA:550
HP:0020129	Abnormal urine protein level	4512	MT-CO1	ORPHA:550
HP:0020129	Abnormal urine protein level	4513	MT-CO2	ORPHA:550
HP:0020129	Abnormal urine protein level	4514	MT-CO3	ORPHA:550
HP:0020129	Abnormal urine protein level	4578	MT-TW	ORPHA:550
HP:0020129	Abnormal urine protein level	4540	MT-ND5	ORPHA:550
HP:0020129	Abnormal urine protein level	4541	MT-ND6	ORPHA:550
HP:0020129	Abnormal urine protein level	4535	MT-ND1	ORPHA:550
HP:0020129	Abnormal urine protein level	4538	MT-ND4	ORPHA:550
HP:0020129	Abnormal urine protein level	4567	MT-TL1	ORPHA:550
HP:0020129	Abnormal urine protein level	4575	MT-TS2	ORPHA:550
HP:0020129	Abnormal urine protein level	4564	MT-TH	ORPHA:550
HP:0020129	Abnormal urine protein level	5087	PBX1	ORPHA:97362
HP:0020129	Abnormal urine protein level	10785	WDR4	OMIM:618347
HP:0020129	Abnormal urine protein level	10785	WDR4	ORPHA:2065
HP:0020129	Abnormal urine protein level	57122	NUP107	OMIM:618348
HP:0020129	Abnormal urine protein level	57122	NUP107	OMIM:616730
HP:0020129	Abnormal urine protein level	57122	NUP107	ORPHA:656
HP:0020129	Abnormal urine protein level	57122	NUP107	ORPHA:2065
HP:0020129	Abnormal urine protein level	55746	NUP133	OMIM:618349
HP:0020129	Abnormal urine protein level	55746	NUP133	ORPHA:656
HP:0020129	Abnormal urine protein level	55746	NUP133	OMIM:618177
HP:0020129	Abnormal urine protein level	55746	NUP133	ORPHA:2065
HP:0020129	Abnormal urine protein level	4179	CD46	OMIM:612922
HP:0020129	Abnormal urine protein level	4179	CD46	ORPHA:244242
HP:0020129	Abnormal urine protein level	6775	STAT4	ORPHA:93552
HP:0020129	Abnormal urine protein level	6775	STAT4	ORPHA:536
HP:0020129	Abnormal urine protein level	6696	SPP1	ORPHA:93552
HP:0020129	Abnormal urine protein level	6696	SPP1	ORPHA:536
HP:0020129	Abnormal urine protein level	6303	SAT1	ORPHA:93552
HP:0020129	Abnormal urine protein level	3654	IRAK1	ORPHA:93552
HP:0020129	Abnormal urine protein level	3654	IRAK1	ORPHA:536
HP:0020129	Abnormal urine protein level	629	CFB	OMIM:612924
HP:0020129	Abnormal urine protein level	3426	CFI	OMIM:612923
HP:0020129	Abnormal urine protein level	3426	CFI	ORPHA:244242
HP:0020129	Abnormal urine protein level	1776	DNASE1L3	ORPHA:36412
HP:0020129	Abnormal urine protein level	7056	THBD	OMIM:612926
HP:0020129	Abnormal urine protein level	718	C3	OMIM:612925
HP:0020129	Abnormal urine protein level	55243	KIRREL1	OMIM:619201
HP:0020129	Abnormal urine protein level	6514	SLC2A2	OMIM:227810
HP:0020129	Abnormal urine protein level	9342	SNAP29	ORPHA:66631
HP:0020129	Abnormal urine protein level	137682	NDUFAF6	OMIM:618913
HP:0020129	Abnormal urine protein level	11093	ADAMTS13	OMIM:274150
HP:0020129	Abnormal urine protein level	5625	PRODH	ORPHA:419
HP:0020129	Abnormal urine protein level	4952	OCRL	ORPHA:534
HP:0020129	Abnormal urine protein level	2215	FCGR3B	ORPHA:536
HP:0020129	Abnormal urine protein level	3684	ITGAM	ORPHA:536
HP:0020129	Abnormal urine protein level	3586	IL10	ORPHA:536
HP:0020129	Abnormal urine protein level	221895	JAZF1	ORPHA:536
HP:0020129	Abnormal urine protein level	7292	TNFSF4	ORPHA:536
HP:0020129	Abnormal urine protein level	640	BLK	ORPHA:536
HP:0020129	Abnormal urine protein level	720	C4A	ORPHA:536
HP:0020129	Abnormal urine protein level	55024	BANK1	ORPHA:536
HP:0020129	Abnormal urine protein level	3500	IGHG1	ORPHA:536
HP:0020129	Abnormal urine protein level	1380	CR2	ORPHA:536
HP:0020129	Abnormal urine protein level	5133	PDCD1	ORPHA:536
HP:0020129	Abnormal urine protein level	2113	ETS1	ORPHA:536
HP:0020129	Abnormal urine protein level	2213	FCGR2B	ORPHA:536
HP:0020129	Abnormal urine protein level	10318	TNIP1	ORPHA:536
HP:0020129	Abnormal urine protein level	7332	UBE2L3	ORPHA:536
HP:0020129	Abnormal urine protein level	79932	KIAA0319L	ORPHA:536
HP:0020129	Abnormal urine protein level	4204	MECP2	ORPHA:536
HP:0020129	Abnormal urine protein level	3663	IRF5	ORPHA:536
HP:0020129	Abnormal urine protein level	3123	HLA-DRB1	ORPHA:536
HP:0020129	Abnormal urine protein level	721	C4B	ORPHA:536
HP:0020129	Abnormal urine protein level	1773	DNASE1	ORPHA:536
HP:0020129	Abnormal urine protein level	51284	TLR7	ORPHA:536
HP:0020129	Abnormal urine protein level	54899	PXK	ORPHA:536
HP:0020129	Abnormal urine protein level	7128	TNFAIP3	ORPHA:536
HP:0020129	Abnormal urine protein level	9688	NUP93	ORPHA:656
HP:0020129	Abnormal urine protein level	4643	MYO1E	ORPHA:656
HP:0020129	Abnormal urine protein level	4643	MYO1E	OMIM:614131
HP:0020129	Abnormal urine protein level	64423	INF2	ORPHA:656
HP:0020129	Abnormal urine protein level	64423	INF2	OMIM:613237
HP:0020129	Abnormal urine protein level	64423	INF2	OMIM:614455
HP:0020129	Abnormal urine protein level	26130	GAPVD1	ORPHA:656
HP:0020129	Abnormal urine protein level	51479	ANKFY1	ORPHA:656
HP:0020129	Abnormal urine protein level	286204	CRB2	ORPHA:656
HP:0020129	Abnormal urine protein level	23165	NUP205	ORPHA:656
HP:0020129	Abnormal urine protein level	2013	EMP2	ORPHA:656
HP:0020129	Abnormal urine protein level	79023	NUP37	ORPHA:656
HP:0020129	Abnormal urine protein level	79902	NUP85	ORPHA:656
HP:0020129	Abnormal urine protein level	79902	NUP85	OMIM:618176
HP:0020129	Abnormal urine protein level	79934	COQ8B	ORPHA:656
HP:0020129	Abnormal urine protein level	79934	COQ8B	OMIM:615573
HP:0020129	Abnormal urine protein level	23279	NUP160	ORPHA:656
HP:0020129	Abnormal urine protein level	23279	NUP160	OMIM:618178
HP:0020129	Abnormal urine protein level	9863	MAGI2	ORPHA:656
HP:0020129	Abnormal urine protein level	9863	MAGI2	OMIM:617609
HP:0020129	Abnormal urine protein level	81	ACTN4	ORPHA:656
HP:0020129	Abnormal urine protein level	81	ACTN4	OMIM:603278
HP:0020129	Abnormal urine protein level	7225	TRPC6	ORPHA:656
HP:0020129	Abnormal urine protein level	7225	TRPC6	OMIM:603965
HP:0020129	Abnormal urine protein level	8542	APOL1	ORPHA:656
HP:0020129	Abnormal urine protein level	54885	TBC1D8B	ORPHA:656
HP:0020129	Abnormal urine protein level	54885	TBC1D8B	OMIM:301028
HP:0020129	Abnormal urine protein level	83478	ARHGAP24	ORPHA:656
HP:0020129	Abnormal urine protein level	23500	DAAM2	ORPHA:656
HP:0020129	Abnormal urine protein level	9663	LPIN2	ORPHA:77297
HP:0020129	Abnormal urine protein level	27235	COQ2	OMIM:607426
HP:0020129	Abnormal urine protein level	6928	HNF1B	OMIM:137920
HP:0020129	Abnormal urine protein level	5277	PIGA	ORPHA:447
HP:0020129	Abnormal urine protein level	55644	OSGEP	OMIM:617729
HP:0020129	Abnormal urine protein level	55644	OSGEP	ORPHA:2065
HP:0020129	Abnormal urine protein level	27031	NPHP3	OMIM:604387
HP:0020129	Abnormal urine protein level	26160	IFT172	OMIM:619471
HP:0020129	Abnormal urine protein level	112858	TP53RK	OMIM:617730
HP:0020129	Abnormal urine protein level	112858	TP53RK	ORPHA:2065
HP:0020129	Abnormal urine protein level	8270	LAGE3	OMIM:301006
HP:0020129	Abnormal urine protein level	8270	LAGE3	ORPHA:2065
HP:0020129	Abnormal urine protein level	29927	SEC61A1	OMIM:617056
HP:0020129	Abnormal urine protein level	1286	COL4A4	OMIM:203780
HP:0020129	Abnormal urine protein level	51002	TPRKB	OMIM:617731
HP:0020129	Abnormal urine protein level	51002	TPRKB	ORPHA:2065
HP:0020129	Abnormal urine protein level	2335	FN1	ORPHA:84090
HP:0020129	Abnormal urine protein level	2335	FN1	OMIM:601894
HP:0020129	Abnormal urine protein level	9935	MAFB	ORPHA:2774
HP:0020129	Abnormal urine protein level	9935	MAFB	OMIM:166300
HP:0020129	Abnormal urine protein level	23630	KCNE5	ORPHA:86818
HP:0020129	Abnormal urine protein level	2182	ACSL4	ORPHA:86818
HP:0020129	Abnormal urine protein level	9949	AMMECR1	ORPHA:86818
HP:0020129	Abnormal urine protein level	100147744	RNU7-1	OMIM:619487
HP:0020129	Abnormal urine protein level	10651	MTX2	OMIM:619127
HP:0020129	Abnormal urine protein level	3075	CFH	ORPHA:244242
HP:0020129	Abnormal urine protein level	101101692	HELLPAR	ORPHA:244242
HP:0020129	Abnormal urine protein level	2625	GATA3	OMIM:146255
HP:0020129	Abnormal urine protein level	6569	SLC34A1	OMIM:613388
HP:0020129	Abnormal urine protein level	353	APRT	ORPHA:976
HP:0020129	Abnormal urine protein level	55898	UNC45A	OMIM:619377
HP:0020129	Abnormal urine protein level	348	APOE	OMIM:611771
HP:0020129	Abnormal urine protein level	4853	NOTCH2	OMIM:610205
HP:0020129	Abnormal urine protein level	29071	C1GALT1C1	OMIM:301110
HP:0020129	Abnormal urine protein level	8516	ITGA8	OMIM:191830
HP:0020129	Abnormal urine protein level	1291	COL6A1	OMIM:158810
HP:0020129	Abnormal urine protein level	9051	PSTPIP1	ORPHA:69126
HP:0020129	Abnormal urine protein level	57728	WDR19	OMIM:614376
HP:0020129	Abnormal urine protein level	57728	WDR19	OMIM:614377
HP:0020129	Abnormal urine protein level	4627	MYH9	ORPHA:182050
HP:0020129	Abnormal urine protein level	84520	GON7	ORPHA:2065
HP:0020129	Abnormal urine protein level	54938	SARS2	OMIM:613845
HP:0020129	Abnormal urine protein level	26276	VPS33B	OMIM:620010
HP:0020129	Abnormal urine protein level	5052	PRDX1	OMIM:277400
HP:0020129	Abnormal urine protein level	25974	MMACHC	OMIM:277400
HP:0020129	Abnormal urine protein level	22909	FAN1	OMIM:614817
HP:0020129	Abnormal urine protein level	2628	GATM	OMIM:134600
HP:0020129	Abnormal urine protein level	2628	GATM	ORPHA:3337
HP:0020129	Abnormal urine protein level	1962	EHHADH	OMIM:615605
HP:0020129	Abnormal urine protein level	1962	EHHADH	ORPHA:3337
HP:0020129	Abnormal urine protein level	51726	DNAJB11	ORPHA:730
HP:0020129	Abnormal urine protein level	23193	GANAB	ORPHA:730
HP:0020129	Abnormal urine protein level	5310	PKD1	ORPHA:730
HP:0020129	Abnormal urine protein level	5311	PKD2	ORPHA:730
HP:0020129	Abnormal urine protein level	29880	ALG5	ORPHA:730
HP:0020129	Abnormal urine protein level	9742	IFT140	ORPHA:730
HP:0020129	Abnormal urine protein level	79796	ALG9	ORPHA:730
HP:0020129	Abnormal urine protein level	80114	BICC1	ORPHA:730
HP:0020129	Abnormal urine protein level	2592	GALT	OMIM:230400
HP:0020129	Abnormal urine protein level	4000	LMNA	OMIM:151660
HP:0020129	Abnormal urine protein level	5189	PEX1	OMIM:214100
HP:0020129	Abnormal urine protein level	975	CD81	OMIM:613496
HP:0020129	Abnormal urine protein level	1650	DDOST	ORPHA:300536
HP:0020129	Abnormal urine protein level	9722	NOS1AP	OMIM:619155
HP:0020129	Abnormal urine protein level	375056	MIA3	OMIM:619269
HP:0020129	Abnormal urine protein level	51124	IER3IP1	OMIM:614231
HP:0020129	Abnormal urine protein level	3767	KCNJ11	ORPHA:99885
HP:0020129	Abnormal urine protein level	6774	STAT3	ORPHA:99885
HP:0020129	Abnormal urine protein level	2645	GCK	ORPHA:99885
HP:0020129	Abnormal urine protein level	3651	PDX1	ORPHA:99885
HP:0020129	Abnormal urine protein level	6833	ABCC8	ORPHA:99885
HP:0020129	Abnormal urine protein level	3630	INS	ORPHA:99885
HP:0020129	Abnormal urine protein level	1736	DKC1	OMIM:301108
HP:0020129	Abnormal urine protein level	55610	VPS50	OMIM:619685
HP:0020129	Abnormal urine protein level	3735	KARS1	OMIM:619147
HP:0020129	Abnormal urine protein level	56606	SLC2A9	ORPHA:94088
HP:0020129	Abnormal urine protein level	1184	CLCN5	OMIM:308990
HP:0020128	Aplasia of the olfactory tract	7050	TGIF1	OMIM:142946
HP:0020120	Retinal nerve fiber edema	355	FAS	ORPHA:3437
HP:0020120	Retinal nerve fiber edema	26191	PTPN22	ORPHA:3437
HP:0020120	Retinal nerve fiber edema	84277	DNAJC30	OMIM:619382
HP:0020120	Retinal nerve fiber edema	84277	DNAJC30	ORPHA:104
HP:0020120	Retinal nerve fiber edema	4535	MT-ND1	ORPHA:104
HP:0020120	Retinal nerve fiber edema	4536	MT-ND2	ORPHA:104
HP:0020120	Retinal nerve fiber edema	4538	MT-ND4	ORPHA:104
HP:0020120	Retinal nerve fiber edema	4720	NDUFS2	ORPHA:104
HP:0020120	Retinal nerve fiber edema	4512	MT-CO1	ORPHA:104
HP:0020120	Retinal nerve fiber edema	4514	MT-CO3	ORPHA:104
HP:0020120	Retinal nerve fiber edema	4519	MT-CYB	ORPHA:104
HP:0020120	Retinal nerve fiber edema	4508	MT-ATP6	ORPHA:104
HP:0020120	Retinal nerve fiber edema	4540	MT-ND5	ORPHA:104
HP:0020120	Retinal nerve fiber edema	4541	MT-ND6	ORPHA:104
HP:0020120	Retinal nerve fiber edema	4539	MT-ND4L	ORPHA:104
HP:0002550	Absent facial hair	54345	SOX18	OMIM:137940
HP:0002550	Absent facial hair	54345	SOX18	OMIM:607823
HP:0002550	Absent facial hair	54345	SOX18	ORPHA:69735
HP:0002550	Absent facial hair	8626	TP63	OMIM:106260
HP:0002550	Absent facial hair	5317	PKP1	OMIM:604536
HP:0002550	Absent facial hair	1896	EDA	OMIM:305100
HP:0002550	Absent facial hair	1832	DSP	ORPHA:158687
HP:0002550	Absent facial hair	3728	JUP	ORPHA:158687
HP:0002550	Absent facial hair	6949	TCOF1	OMIM:154500
HP:0002550	Absent facial hair	6949	TCOF1	ORPHA:861
HP:0002550	Absent facial hair	4035	LRP1	OMIM:604093
HP:0002550	Absent facial hair	673	BRAF	OMIM:115150
HP:0002550	Absent facial hair	128178	EDARADD	OMIM:614941
HP:0002550	Absent facial hair	64682	ANAPC1	OMIM:618625
HP:0002550	Absent facial hair	10283	CWC27	OMIM:250410
HP:0002550	Absent facial hair	10283	CWC27	ORPHA:166035
HP:0002550	Absent facial hair	11128	POLR3A	OMIM:264090
HP:0002550	Absent facial hair	10269	ZMPSTE24	OMIM:275210
HP:0002550	Absent facial hair	80144	FRAS1	OMIM:219000
HP:0002550	Absent facial hair	3891	KRT85	OMIM:602032
HP:0002550	Absent facial hair	55806	HR	ORPHA:701
HP:0002550	Absent facial hair	55806	HR	OMIM:203655
HP:0002550	Absent facial hair	117581	TWIST2	ORPHA:920
HP:0002550	Absent facial hair	117581	TWIST2	OMIM:200110
HP:0002550	Absent facial hair	9401	RECQL4	OMIM:268400
HP:0002550	Absent facial hair	2255	FGF10	OMIM:620193
HP:0002550	Absent facial hair	2706	GJB2	OMIM:602540
HP:0002550	Absent facial hair	84172	POLR1B	ORPHA:861
HP:0002550	Absent facial hair	9533	POLR1C	ORPHA:861
HP:0002550	Absent facial hair	51082	POLR1D	ORPHA:861
HP:0002550	Absent facial hair	51360	MBTPS2	OMIM:308205
HP:0002550	Absent facial hair	54101	RIPK4	OMIM:263650
HP:0002550	Absent facial hair	4000	LMNA	ORPHA:363618
HP:0002550	Absent facial hair	4000	LMNA	ORPHA:90153
HP:0002550	Absent facial hair	267010	RNU12	ORPHA:85199
HP:0002550	Absent facial hair	4953	ODC1	ORPHA:544488
HP:0002550	Absent facial hair	3229	HOXC13	OMIM:614931
HP:0002550	Absent facial hair	26227	PHGDH	OMIM:256520
HP:0002550	Absent facial hair	1041	CDSN	ORPHA:90368
HP:0002550	Absent facial hair	121391	KRT74	ORPHA:90368
HP:0002550	Absent facial hair	81607	NECTIN4	OMIM:613573
HP:0002550	Absent facial hair	367	AR	OMIM:300068
HP:0002550	Absent facial hair	26137	ZBTB20	OMIM:259050
HP:0002550	Absent facial hair	5965	RECQL	OMIM:620370
HP:0002550	Absent facial hair	10262	SF3B4	OMIM:154400
HP:0008070	Sparse hair	81607	NECTIN4	OMIM:613573
HP:0008070	Sparse hair	8092	ALX1	OMIM:613456
HP:0008070	Sparse hair	8092	ALX1	ORPHA:306542
HP:0008070	Sparse hair	267010	RNU12	OMIM:603116
HP:0008070	Sparse hair	4953	ODC1	ORPHA:544488
HP:0008070	Sparse hair	4953	ODC1	OMIM:619075
HP:0008070	Sparse hair	83999	KREMEN1	OMIM:617392
HP:0008070	Sparse hair	9698	PUM1	OMIM:620719
HP:0008070	Sparse hair	1801	DPH1	OMIM:616901
HP:0008070	Sparse hair	22845	DOLK	OMIM:610768
HP:0008070	Sparse hair	9896	FIG4	ORPHA:3472
HP:0008070	Sparse hair	9896	FIG4	OMIM:216340
HP:0008070	Sparse hair	55697	VAC14	ORPHA:3472
HP:0008070	Sparse hair	374393	FAM111B	OMIM:615704
HP:0008070	Sparse hair	54345	SOX18	OMIM:137940
HP:0008070	Sparse hair	11285	B4GALT7	ORPHA:75496
HP:0008070	Sparse hair	1909	EDNRA	OMIM:616367
HP:0008070	Sparse hair	79574	EPS8L3	OMIM:612841
HP:0008070	Sparse hair	3675	ITGA3	OMIM:614748
HP:0008070	Sparse hair	51611	DPH5	OMIM:620070
HP:0008070	Sparse hair	25959	KANK2	OMIM:616099
HP:0008070	Sparse hair	84946	LTV1	OMIM:620199
HP:0008070	Sparse hair	4763	NF1	ORPHA:139474
HP:0008070	Sparse hair	1748	DLX4	OMIM:616788
HP:0008070	Sparse hair	8815	BANF1	OMIM:614008
HP:0008070	Sparse hair	121391	KRT74	OMIM:614929
HP:0008070	Sparse hair	641	BLM	ORPHA:125
HP:0008070	Sparse hair	1832	DSP	OMIM:605676
HP:0008070	Sparse hair	90121	TSR2	OMIM:300946
HP:0008070	Sparse hair	120766137	HRURF	OMIM:146550
HP:0008070	Sparse hair	11005	SPINK5	ORPHA:634
HP:0008070	Sparse hair	875	CBS	ORPHA:394
HP:0008070	Sparse hair	23394	ADNP	ORPHA:404448
HP:0008070	Sparse hair	54084	TSPEAR	OMIM:618180
HP:0008070	Sparse hair	1763	DNA2	OMIM:620819
HP:0008070	Sparse hair	1763	DNA2	ORPHA:808
HP:0008070	Sparse hair	10054	UBA2	OMIM:619959
HP:0008070	Sparse hair	9759	HDAC4	ORPHA:1001
HP:0008070	Sparse hair	775	CACNA1C	OMIM:620029
HP:0008070	Sparse hair	197	AHSG	ORPHA:2850
HP:0008070	Sparse hair	3694	ITGB6	ORPHA:2850
HP:0008070	Sparse hair	197131	UBR1	OMIM:243800
HP:0008070	Sparse hair	3728	JUP	ORPHA:34217
HP:0008070	Sparse hair	29998	BICRA	OMIM:619325
HP:0008070	Sparse hair	3872	KRT17	OMIM:167210
HP:0008070	Sparse hair	4952	OCRL	ORPHA:534
HP:0008070	Sparse hair	84196	USP48	ORPHA:96253
HP:0008070	Sparse hair	7157	TP53	ORPHA:96253
HP:0008070	Sparse hair	9101	USP8	ORPHA:96253
HP:0008070	Sparse hair	64072	CDH23	ORPHA:96253
HP:0008070	Sparse hair	2908	NR3C1	ORPHA:96253
HP:0008070	Sparse hair	546	ATRX	ORPHA:96253
HP:0008070	Sparse hair	57492	ARID1B	OMIM:135900
HP:0008070	Sparse hair	57492	ARID1B	ORPHA:1465
HP:0008070	Sparse hair	6601	SMARCC2	OMIM:618362
HP:0008070	Sparse hair	6601	SMARCC2	ORPHA:1465
HP:0008070	Sparse hair	23522	KAT6B	OMIM:606170
HP:0008070	Sparse hair	23522	KAT6B	ORPHA:85201
HP:0008070	Sparse hair	1041	CDSN	OMIM:146520
HP:0008070	Sparse hair	1041	CDSN	ORPHA:90368
HP:0008070	Sparse hair	6597	SMARCA4	ORPHA:1465
HP:0008070	Sparse hair	6597	SMARCA4	OMIM:614609
HP:0008070	Sparse hair	6598	SMARCB1	ORPHA:1465
HP:0008070	Sparse hair	6598	SMARCB1	OMIM:614608
HP:0008070	Sparse hair	6659	SOX4	ORPHA:1465
HP:0008070	Sparse hair	8289	ARID1A	ORPHA:1465
HP:0008070	Sparse hair	8289	ARID1A	OMIM:614607
HP:0008070	Sparse hair	5977	DPF2	ORPHA:1465
HP:0008070	Sparse hair	5977	DPF2	OMIM:618027
HP:0008070	Sparse hair	6602	SMARCD1	ORPHA:1465
HP:0008070	Sparse hair	196528	ARID2	ORPHA:1465
HP:0008070	Sparse hair	6605	SMARCE1	ORPHA:1465
HP:0008070	Sparse hair	6605	SMARCE1	OMIM:616938
HP:0008070	Sparse hair	6664	SOX11	ORPHA:1465
HP:0008070	Sparse hair	6664	SOX11	OMIM:615866
HP:0008070	Sparse hair	7703	PCGF2	OMIM:618371
HP:0008070	Sparse hair	23028	KDM1A	ORPHA:477993
HP:0008070	Sparse hair	4914	NTRK1	OMIM:256800
HP:0008070	Sparse hair	2783	GNB2	OMIM:619503
HP:0008070	Sparse hair	5116	PCNT	OMIM:210720
HP:0008070	Sparse hair	5116	PCNT	ORPHA:808
HP:0008070	Sparse hair	9419	CRIPT	OMIM:615789
HP:0008070	Sparse hair	79669	C3orf52	OMIM:620177
HP:0008070	Sparse hair	1802	DPH2	OMIM:620062
HP:0008070	Sparse hair	1802	DPH2	ORPHA:459061
HP:0008070	Sparse hair	3981	LIG4	ORPHA:235
HP:0008070	Sparse hair	10526	IPO8	OMIM:619472
HP:0008070	Sparse hair	3122	HLA-DRA	ORPHA:505
HP:0008070	Sparse hair	7486	WRN	ORPHA:902
HP:0008070	Sparse hair	2131	EXT1	ORPHA:502
HP:0008070	Sparse hair	5885	RAD21	ORPHA:502
HP:0008070	Sparse hair	26137	ZBTB20	OMIM:259050
HP:0008070	Sparse hair	4094	MAF	ORPHA:1272
HP:0008070	Sparse hair	4094	MAF	OMIM:601088
HP:0008070	Sparse hair	79971	WLS	OMIM:619648
HP:0008070	Sparse hair	10848	PPP1R13L	OMIM:620519
HP:0008070	Sparse hair	1984	EIF5A	OMIM:619376
HP:0008070	Sparse hair	545	ATR	ORPHA:808
HP:0008070	Sparse hair	1062	CENPE	ORPHA:808
HP:0008070	Sparse hair	5932	RBBP8	ORPHA:808
HP:0008070	Sparse hair	79902	NUP85	ORPHA:808
HP:0008070	Sparse hair	84126	ATRIP	ORPHA:808
HP:0008070	Sparse hair	10293	TRAIP	ORPHA:808
HP:0008070	Sparse hair	22995	CEP152	ORPHA:808
HP:0008070	Sparse hair	10733	PLK4	ORPHA:808
HP:0008070	Sparse hair	404672	GTF2H5	ORPHA:33364
HP:0008070	Sparse hair	6897	TARS1	ORPHA:33364
HP:0008070	Sparse hair	2071	ERCC3	ORPHA:33364
HP:0008070	Sparse hair	2961	GTF2E2	ORPHA:33364
HP:0008070	Sparse hair	65057	ACD	ORPHA:3322
HP:0008070	Sparse hair	9742	IFT140	OMIM:266920
HP:0008070	Sparse hair	54101	RIPK4	OMIM:263650
HP:0008070	Sparse hair	5587	PRKD1	OMIM:617364
HP:0008070	Sparse hair	355	FAS	ORPHA:3437
HP:0008070	Sparse hair	26191	PTPN22	ORPHA:3437
HP:0008070	Sparse hair	25871	NEPRO	OMIM:618853
HP:0008070	Sparse hair	64858	DCLRE1B	OMIM:620133
HP:0008070	Sparse hair	3480	IGF1R	OMIM:270450
HP:0008070	Sparse hair	9508	ADAMTS3	ORPHA:2136
HP:0008070	Sparse hair	147372	CCBE1	ORPHA:2136
HP:0008070	Sparse hair	79633	FAT4	ORPHA:2136
HP:0008070	Sparse hair	367	AR	OMIM:300068
HP:0008070	Sparse hair	367	AR	ORPHA:99429
HP:0008070	Sparse hair	6926	TBX3	OMIM:181450
HP:0008070	Sparse hair	2488	FSHB	ORPHA:52901
HP:0008070	Sparse hair	3972	LHB	OMIM:228300
HP:0008070	Sparse hair	1528	CYB5A	ORPHA:90796
HP:0008070	Sparse hair	1586	CYP17A1	ORPHA:90796
HP:0008070	Sparse hair	285025	CCDC141	OMIM:146110
HP:0008070	Sparse hair	9723	SEMA3E	OMIM:146110
HP:0008070	Sparse hair	10011	SRA1	OMIM:146110
HP:0008070	Sparse hair	2796	GNRH1	OMIM:146110
HP:0008070	Sparse hair	81848	SPRY4	OMIM:146110
HP:0008070	Sparse hair	389549	FEZF1	OMIM:146110
HP:0008070	Sparse hair	55717	WDR11	OMIM:146110
HP:0008070	Sparse hair	8822	FGF17	OMIM:146110
HP:0008070	Sparse hair	558	AXL	OMIM:146110
HP:0008070	Sparse hair	1848	DUSP6	OMIM:146110
HP:0008070	Sparse hair	2798	GNRHR	OMIM:146110
HP:0008070	Sparse hair	4214	MAP3K1	OMIM:613762
HP:0008070	Sparse hair	4214	MAP3K1	ORPHA:251510
HP:0008070	Sparse hair	6662	SOX9	ORPHA:251510
HP:0008070	Sparse hair	6845	VAMP7	ORPHA:251510
HP:0008070	Sparse hair	51741	WWOX	ORPHA:251510
HP:0008070	Sparse hair	2516	NR5A1	ORPHA:251510
HP:0008070	Sparse hair	7490	WT1	ORPHA:251510
HP:0008070	Sparse hair	57647	DHX37	ORPHA:251510
HP:0008070	Sparse hair	6736	SRY	ORPHA:251510
HP:0008070	Sparse hair	23414	ZFPM2	ORPHA:251510
HP:0008070	Sparse hair	190	NR0B1	ORPHA:251510
HP:0008070	Sparse hair	2626	GATA4	ORPHA:251510
HP:0008070	Sparse hair	5696	PSMB8	OMIM:256040
HP:0008070	Sparse hair	23594	ORC6	OMIM:613803
HP:0008070	Sparse hair	1308	COL17A1	ORPHA:251393
HP:0008070	Sparse hair	3691	ITGB4	ORPHA:251393
HP:0008070	Sparse hair	668	FOXL2	OMIM:110100
HP:0008070	Sparse hair	4193	MDM2	OMIM:618681
HP:0008070	Sparse hair	29893	PSMC3IP	ORPHA:243
HP:0008070	Sparse hair	171568	POLR3H	ORPHA:243
HP:0008070	Sparse hair	125150	ZSWIM7	ORPHA:243
HP:0008070	Sparse hair	9210	BMP15	ORPHA:243
HP:0008070	Sparse hair	57122	NUP107	ORPHA:243
HP:0008070	Sparse hair	23514	SPIDR	ORPHA:243
HP:0008070	Sparse hair	2492	FSHR	ORPHA:243
HP:0008070	Sparse hair	56945	MRPS22	ORPHA:243
HP:0008070	Sparse hair	646	BNC1	ORPHA:243
HP:0008070	Sparse hair	4438	MSH4	ORPHA:243
HP:0008070	Sparse hair	3730	ANOS1	OMIM:308700
HP:0008070	Sparse hair	55012	PPP2R3C	OMIM:618419
HP:0008070	Sparse hair	2260	FGFR1	ORPHA:432
HP:0008070	Sparse hair	128674	PROKR2	ORPHA:432
HP:0008070	Sparse hair	2253	FGF8	ORPHA:432
HP:0008070	Sparse hair	60675	PROK2	ORPHA:432
HP:0008070	Sparse hair	55636	CHD7	ORPHA:432
HP:0008070	Sparse hair	6870	TACR3	ORPHA:432
HP:0008070	Sparse hair	26012	NSMF	ORPHA:432
HP:0008070	Sparse hair	4808	NHLH2	ORPHA:432
HP:0008070	Sparse hair	9394	HS6ST1	ORPHA:432
HP:0008070	Sparse hair	84634	KISS1R	ORPHA:432
HP:0008070	Sparse hair	6866	TAC3	ORPHA:432
HP:0008070	Sparse hair	3814	KISS1	ORPHA:432
HP:0008070	Sparse hair	54800	KLHL24	OMIM:617294
HP:0008070	Sparse hair	3891	KRT85	OMIM:602032
HP:0008070	Sparse hair	2332	FMR1	ORPHA:261483
HP:0008070	Sparse hair	3909	LAMA3	ORPHA:79402
HP:0008070	Sparse hair	3918	LAMC2	ORPHA:79402
HP:0008070	Sparse hair	3914	LAMB3	ORPHA:79402
HP:0008070	Sparse hair	1075	CTSC	ORPHA:678
HP:0008070	Sparse hair	64324	NSD1	ORPHA:821
HP:0008070	Sparse hair	10297	APC2	ORPHA:821
HP:0008070	Sparse hair	10262	SF3B4	ORPHA:245
HP:0008070	Sparse hair	10262	SF3B4	OMIM:154400
HP:0008070	Sparse hair	6949	TCOF1	OMIM:154500
HP:0008070	Sparse hair	4487	MSX1	OMIM:189500
HP:0008070	Sparse hair	8036	SHOC2	OMIM:607721
HP:0008070	Sparse hair	83932	SPRTN	OMIM:616200
HP:0008070	Sparse hair	2132	EXT2	OMIM:616682
HP:0008070	Sparse hair	26128	KIFBP	OMIM:609460
HP:0008070	Sparse hair	128178	EDARADD	OMIM:614940
HP:0008070	Sparse hair	128178	EDARADD	OMIM:614941
HP:0008070	Sparse hair	128178	EDARADD	ORPHA:1810
HP:0008070	Sparse hair	128178	EDARADD	OMIM:129490
HP:0008070	Sparse hair	128178	EDARADD	OMIM:224900
HP:0008070	Sparse hair	673	BRAF	OMIM:115150
HP:0008070	Sparse hair	673	BRAF	ORPHA:1340
HP:0008070	Sparse hair	57539	WDR35	OMIM:613610
HP:0008070	Sparse hair	57539	WDR35	ORPHA:1515
HP:0008070	Sparse hair	57539	WDR35	OMIM:614091
HP:0008070	Sparse hair	81857	MED25	OMIM:616449
HP:0008070	Sparse hair	64682	ANAPC1	OMIM:618625
HP:0008070	Sparse hair	64682	ANAPC1	ORPHA:221008
HP:0008070	Sparse hair	9401	RECQL4	OMIM:268400
HP:0008070	Sparse hair	9401	RECQL4	ORPHA:221016
HP:0008070	Sparse hair	6720	SREBF1	OMIM:158310
HP:0008070	Sparse hair	6720	SREBF1	OMIM:619016
HP:0008070	Sparse hair	9578	CDC42BPB	OMIM:619841
HP:0008070	Sparse hair	162	AP1B1	OMIM:242150
HP:0008070	Sparse hair	3021	H3-3B	OMIM:619721
HP:0008070	Sparse hair	80816	ASXL3	OMIM:615485
HP:0008070	Sparse hair	89910	UBE3B	OMIM:244450
HP:0008070	Sparse hair	10908	PNPLA6	OMIM:275400
HP:0008070	Sparse hair	10908	PNPLA6	ORPHA:3363
HP:0008070	Sparse hair	5818	NECTIN1	ORPHA:3253
HP:0008070	Sparse hair	3242	HPD	OMIM:140350
HP:0008070	Sparse hair	3242	HPD	ORPHA:2118
HP:0008070	Sparse hair	1161	ERCC8	OMIM:216400
HP:0008070	Sparse hair	79158	GNPTAB	OMIM:252500
HP:0008070	Sparse hair	112752	IFT43	ORPHA:1515
HP:0008070	Sparse hair	112752	IFT43	OMIM:614099
HP:0008070	Sparse hair	51098	IFT52	ORPHA:1515
HP:0008070	Sparse hair	55764	IFT122	ORPHA:1515
HP:0008070	Sparse hair	55764	IFT122	OMIM:218330
HP:0008070	Sparse hair	57728	WDR19	ORPHA:1515
HP:0008070	Sparse hair	29957	SLC25A24	ORPHA:2963
HP:0008070	Sparse hair	1896	EDA	OMIM:305100
HP:0008070	Sparse hair	1896	EDA	ORPHA:181
HP:0008070	Sparse hair	6023	RMRP	ORPHA:175
HP:0008070	Sparse hair	6023	RMRP	OMIM:250250
HP:0008070	Sparse hair	51360	MBTPS2	ORPHA:2273
HP:0008070	Sparse hair	51360	MBTPS2	ORPHA:659
HP:0008070	Sparse hair	54453	RIN2	OMIM:613075
HP:0008070	Sparse hair	8913	CACNA1G	OMIM:618087
HP:0008070	Sparse hair	816	CAMK2B	OMIM:617799
HP:0008070	Sparse hair	23545	ATP6V0A2	ORPHA:2834
HP:0008070	Sparse hair	23545	ATP6V0A2	OMIM:278250
HP:0008070	Sparse hair	23545	ATP6V0A2	ORPHA:357074
HP:0008070	Sparse hair	284252	KCTD1	ORPHA:2036
HP:0008070	Sparse hair	284252	KCTD1	OMIM:181270
HP:0008070	Sparse hair	6499	SKIC2	OMIM:614602
HP:0008070	Sparse hair	54543	TOMM7	OMIM:620601
HP:0008070	Sparse hair	23184	MESD	OMIM:618644
HP:0008070	Sparse hair	340061	STING1	OMIM:615934
HP:0008070	Sparse hair	2697	GJA1	ORPHA:2710
HP:0008070	Sparse hair	2697	GJA1	OMIM:164200
HP:0008070	Sparse hair	2697	GJA1	OMIM:257850
HP:0008070	Sparse hair	2697	GJA1	OMIM:104100
HP:0008070	Sparse hair	7020	TFAP2A	OMIM:113620
HP:0008070	Sparse hair	23116	TOGARAM1	OMIM:619185
HP:0008070	Sparse hair	857	CAV1	OMIM:606721
HP:0008070	Sparse hair	10484	SEC23A	OMIM:607812
HP:0008070	Sparse hair	10484	SEC23A	ORPHA:50814
HP:0008070	Sparse hair	497661	C18orf32	OMIM:619985
HP:0008070	Sparse hair	5073	PARN	OMIM:616353
HP:0008070	Sparse hair	5073	PARN	ORPHA:1775
HP:0008070	Sparse hair	833	CARS1	OMIM:618891
HP:0008070	Sparse hair	8550	MAPKAPK5	OMIM:619869
HP:0008070	Sparse hair	23314	SATB2	OMIM:612313
HP:0008070	Sparse hair	23314	SATB2	ORPHA:251028
HP:0008070	Sparse hair	23314	SATB2	ORPHA:251019
HP:0008070	Sparse hair	1474	CST6	OMIM:618535
HP:0008070	Sparse hair	200734	SPRED2	OMIM:619745
HP:0008070	Sparse hair	55623	THUMPD1	OMIM:619989
HP:0008070	Sparse hair	9487	PIGL	ORPHA:3474
HP:0008070	Sparse hair	9487	PIGL	OMIM:280000
HP:0008070	Sparse hair	3265	HRAS	OMIM:218040
HP:0008070	Sparse hair	4247	MGAT2	OMIM:212066
HP:0008070	Sparse hair	8517	IKBKG	ORPHA:98813
HP:0008070	Sparse hair	8517	IKBKG	OMIM:300291
HP:0008070	Sparse hair	8517	IKBKG	OMIM:308300
HP:0008070	Sparse hair	4792	NFKBIA	ORPHA:98813
HP:0008070	Sparse hair	4792	NFKBIA	OMIM:612132
HP:0008070	Sparse hair	5317	PKP1	OMIM:604536
HP:0008070	Sparse hair	5317	PKP1	ORPHA:158668
HP:0008070	Sparse hair	10804	GJB6	ORPHA:477
HP:0008070	Sparse hair	10804	GJB6	ORPHA:189
HP:0008070	Sparse hair	2706	GJB2	ORPHA:477
HP:0008070	Sparse hair	80326	WNT10A	OMIM:224750
HP:0008070	Sparse hair	80326	WNT10A	ORPHA:50944
HP:0008070	Sparse hair	23126	POGZ	OMIM:616364
HP:0008070	Sparse hair	3845	KRAS	OMIM:615278
HP:0008070	Sparse hair	3845	KRAS	ORPHA:1340
HP:0008070	Sparse hair	3845	KRAS	OMIM:609942
HP:0008070	Sparse hair	150468	CKAP2L	OMIM:272440
HP:0008070	Sparse hair	8626	TP63	OMIM:129400
HP:0008070	Sparse hair	8626	TP63	ORPHA:1896
HP:0008070	Sparse hair	157570	ESCO2	ORPHA:3103
HP:0008070	Sparse hair	157570	ESCO2	OMIM:268300
HP:0008070	Sparse hair	8085	KMT2D	OMIM:620186
HP:0008070	Sparse hair	5605	MAP2K2	OMIM:615280
HP:0008070	Sparse hair	5605	MAP2K2	ORPHA:1340
HP:0008070	Sparse hair	4089	SMAD4	OMIM:139210
HP:0008070	Sparse hair	2934	GSN	ORPHA:85448
HP:0008070	Sparse hair	5159	PDGFRB	OMIM:601812
HP:0008070	Sparse hair	8481	OFD1	OMIM:311200
HP:0008070	Sparse hair	8481	OFD1	ORPHA:2750
HP:0008070	Sparse hair	9968	MED12	OMIM:305450
HP:0008070	Sparse hair	5832	ALDH18A1	OMIM:219150
HP:0008070	Sparse hair	84919	PPP1R15B	OMIM:616817
HP:0008070	Sparse hair	84919	PPP1R15B	ORPHA:391408
HP:0008070	Sparse hair	11128	POLR3A	ORPHA:3455
HP:0008070	Sparse hair	55691	FRMD4A	OMIM:616819
HP:0008070	Sparse hair	10430	TMEM147	OMIM:620075
HP:0008070	Sparse hair	147409	DSG4	OMIM:607903
HP:0008070	Sparse hair	147409	DSG4	ORPHA:573
HP:0008070	Sparse hair	147409	DSG4	ORPHA:55654
HP:0008070	Sparse hair	9652	SKIC3	OMIM:222470
HP:0008070	Sparse hair	84168	ANTXR1	OMIM:230740
HP:0008070	Sparse hair	6635	SNRPE	OMIM:615059
HP:0008070	Sparse hair	6635	SNRPE	ORPHA:55654
HP:0008070	Sparse hair	2146	EZH2	OMIM:277590
HP:0008070	Sparse hair	84295	PHF6	ORPHA:127
HP:0008070	Sparse hair	117581	TWIST2	ORPHA:920
HP:0008070	Sparse hair	117581	TWIST2	ORPHA:1807
HP:0008070	Sparse hair	117581	TWIST2	OMIM:227260
HP:0008070	Sparse hair	117581	TWIST2	OMIM:200110
HP:0008070	Sparse hair	10682	EBP	OMIM:302960
HP:0008070	Sparse hair	6595	SMARCA2	OMIM:601358
HP:0008070	Sparse hair	6595	SMARCA2	ORPHA:3051
HP:0008070	Sparse hair	5631	PRPS1	OMIM:300661
HP:0008070	Sparse hair	80067	DCAF17	OMIM:241080
HP:0008070	Sparse hair	1387	CREBBP	OMIM:618332
HP:0008070	Sparse hair	867	CBL	OMIM:613563
HP:0008070	Sparse hair	7227	TRPS1	OMIM:190351
HP:0008070	Sparse hair	7227	TRPS1	ORPHA:77258
HP:0008070	Sparse hair	1828	DSG1	OMIM:615508
HP:0008070	Sparse hair	140679	SLC32A1	OMIM:620774
HP:0008070	Sparse hair	84181	CHD6	ORPHA:2108
HP:0008070	Sparse hair	7189	TRAF6	ORPHA:1810
HP:0008070	Sparse hair	126695	KDF1	ORPHA:1810
HP:0008070	Sparse hair	10913	EDAR	ORPHA:1810
HP:0008070	Sparse hair	10913	EDAR	OMIM:129490
HP:0008070	Sparse hair	10913	EDAR	OMIM:224900
HP:0008070	Sparse hair	7051	TGM1	OMIM:242300
HP:0008070	Sparse hair	7051	TGM1	ORPHA:100976
HP:0008070	Sparse hair	7051	TGM1	ORPHA:313
HP:0008070	Sparse hair	2074	ERCC6	OMIM:133540
HP:0008070	Sparse hair	147495	APCDD1	OMIM:605389
HP:0008070	Sparse hair	147495	APCDD1	ORPHA:55654
HP:0008070	Sparse hair	26277	TINF2	OMIM:268130
HP:0008070	Sparse hair	26277	TINF2	OMIM:127550
HP:0008070	Sparse hair	26277	TINF2	ORPHA:1775
HP:0008070	Sparse hair	57459	GATAD2B	OMIM:615074
HP:0008070	Sparse hair	60529	ALX4	OMIM:613451
HP:0008070	Sparse hair	100151683	RNU4ATAC	OMIM:210710
HP:0008070	Sparse hair	100151683	RNU4ATAC	ORPHA:2636
HP:0008070	Sparse hair	2355	FOSL2	OMIM:620789
HP:0008070	Sparse hair	6768	ST14	ORPHA:91132
HP:0008070	Sparse hair	6768	ST14	OMIM:602400
HP:0008070	Sparse hair	2972	BRF1	ORPHA:444072
HP:0008070	Sparse hair	23030	KDM4B	OMIM:619320
HP:0008070	Sparse hair	3313	HSPA9	OMIM:616854
HP:0008070	Sparse hair	4893	NRAS	OMIM:613224
HP:0008070	Sparse hair	1825	DSC3	OMIM:613102
HP:0008070	Sparse hair	5831	PYCR1	OMIM:614438
HP:0008070	Sparse hair	999	CDH1	OMIM:119580
HP:0008070	Sparse hair	64065	PERP	OMIM:619208
HP:0008070	Sparse hair	64065	PERP	ORPHA:659
HP:0008070	Sparse hair	162514	TRPV3	ORPHA:659
HP:0008070	Sparse hair	162514	TRPV3	OMIM:614594
HP:0008070	Sparse hair	7012	TERC	OMIM:127550
HP:0008070	Sparse hair	7012	TERC	ORPHA:1775
HP:0008070	Sparse hair	7015	TERT	OMIM:127550
HP:0008070	Sparse hair	7015	TERT	ORPHA:1775
HP:0008070	Sparse hair	2068	ERCC2	OMIM:610756
HP:0008070	Sparse hair	2068	ERCC2	OMIM:601675
HP:0008070	Sparse hair	3892	KRT86	ORPHA:573
HP:0008070	Sparse hair	3892	KRT86	OMIM:158000
HP:0008070	Sparse hair	3889	KRT83	ORPHA:573
HP:0008070	Sparse hair	3889	KRT83	OMIM:158000
HP:0008070	Sparse hair	3887	KRT81	ORPHA:573
HP:0008070	Sparse hair	3887	KRT81	OMIM:158000
HP:0008070	Sparse hair	16	AARS1	OMIM:619691
HP:0008070	Sparse hair	8313	AXIN2	ORPHA:401911
HP:0008070	Sparse hair	4784	NFIX	OMIM:602535
HP:0008070	Sparse hair	10940	POP1	OMIM:617396
HP:0008070	Sparse hair	4141	MARS1	OMIM:619692
HP:0008070	Sparse hair	54496	PRMT7	OMIM:617157
HP:0008070	Sparse hair	63035	BCORL1	OMIM:301029
HP:0008070	Sparse hair	10265	IRX5	OMIM:611174
HP:0008070	Sparse hair	112802	KRT71	OMIM:615896
HP:0008070	Sparse hair	55806	HR	OMIM:209500
HP:0008070	Sparse hair	5604	MAP2K1	ORPHA:1340
HP:0008070	Sparse hair	9056	SLC7A7	OMIM:222700
HP:0008070	Sparse hair	1001	CDH3	OMIM:601553
HP:0008070	Sparse hair	538	ATP7A	ORPHA:565
HP:0008070	Sparse hair	538	ATP7A	OMIM:309400
HP:0008070	Sparse hair	1301	COL11A1	ORPHA:560
HP:0008070	Sparse hair	3977	LIFR	OMIM:601559
HP:0008070	Sparse hair	4700	NDUFA6	OMIM:618253
HP:0008070	Sparse hair	79827	CLMP	ORPHA:2301
HP:0008070	Sparse hair	2316	FLNA	ORPHA:2301
HP:0008070	Sparse hair	5332	PLCB4	OMIM:620458
HP:0008070	Sparse hair	151516	ASPRV1	ORPHA:313
HP:0008070	Sparse hair	242	ALOX12B	ORPHA:313
HP:0008070	Sparse hair	126410	CYP4F22	ORPHA:313
HP:0008070	Sparse hair	6820	SULT2B1	ORPHA:313
HP:0008070	Sparse hair	26154	ABCA12	ORPHA:313
HP:0008070	Sparse hair	643418	LIPN	ORPHA:313
HP:0008070	Sparse hair	59344	ALOXE3	ORPHA:313
HP:0008070	Sparse hair	348938	NIPAL4	ORPHA:313
HP:0008070	Sparse hair	121214	SDR9C7	ORPHA:313
HP:0008070	Sparse hair	64840	PORCN	OMIM:305600
HP:0008070	Sparse hair	9791	PTDSS1	OMIM:151050
HP:0008070	Sparse hair	200879	LIPH	OMIM:604379
HP:0008070	Sparse hair	200879	LIPH	ORPHA:55654
HP:0008070	Sparse hair	10269	ZMPSTE24	OMIM:608612
HP:0008070	Sparse hair	10269	ZMPSTE24	ORPHA:1662
HP:0008070	Sparse hair	134218	DNAJC21	OMIM:617052
HP:0008070	Sparse hair	147183	KRT25	OMIM:616760
HP:0008070	Sparse hair	7737	RNF113A	OMIM:300953
HP:0008070	Sparse hair	490	ATP2B1	OMIM:619910
HP:0008070	Sparse hair	4329	ALDH6A1	OMIM:614105
HP:0008070	Sparse hair	10283	CWC27	OMIM:250410
HP:0008070	Sparse hair	4047	LSS	ORPHA:55654
HP:0008070	Sparse hair	4047	LSS	OMIM:618275
HP:0008070	Sparse hair	6144	RPL21	ORPHA:55654
HP:0008070	Sparse hair	10161	LPAR6	ORPHA:55654
HP:0008070	Sparse hair	136647	MPLKIP	OMIM:234050
HP:0008070	Sparse hair	60401	EDA2R	ORPHA:181
HP:0008070	Sparse hair	6872	TAF1	OMIM:300966
HP:0008070	Sparse hair	10651	MTX2	OMIM:619127
HP:0008070	Sparse hair	9702	CEP57	OMIM:614114
HP:0008070	Sparse hair	5500	PPP1CB	OMIM:617506
HP:0008070	Sparse hair	54676	GTPBP2	OMIM:617988
HP:0008070	Sparse hair	93587	TRMT10A	ORPHA:391408
HP:0008070	Sparse hair	3516	RBPJ	ORPHA:974
HP:0008070	Sparse hair	4851	NOTCH1	ORPHA:974
HP:0008070	Sparse hair	57514	ARHGAP31	ORPHA:974
HP:0008070	Sparse hair	57572	DOCK6	ORPHA:974
HP:0008070	Sparse hair	285203	EOGT	ORPHA:974
HP:0008070	Sparse hair	54567	DLL4	ORPHA:974
HP:0008070	Sparse hair	9076	CLDN1	OMIM:607626
HP:0008070	Sparse hair	7480	WNT10B	OMIM:617073
HP:0008070	Sparse hair	5295	PIK3R1	ORPHA:3163
HP:0008070	Sparse hair	10084	PQBP1	OMIM:309500
HP:0008070	Sparse hair	54888	NSUN2	OMIM:611091
HP:0008070	Sparse hair	523	ATP6V1A	ORPHA:357074
HP:0008070	Sparse hair	529	ATP6V1E1	ORPHA:357074
HP:0008070	Sparse hair	7518	XRCC4	OMIM:616541
HP:0008070	Sparse hair	4000	LMNA	ORPHA:1662
HP:0008070	Sparse hair	4000	LMNA	ORPHA:363618
HP:0008070	Sparse hair	5297	PI4KA	ORPHA:436252
HP:0008070	Sparse hair	57217	TTC7A	ORPHA:436252
HP:0008070	Sparse hair	5557	PRIM1	OMIM:620005
HP:0008070	Sparse hair	1788	DNMT3A	OMIM:618724
HP:0008070	Sparse hair	9757	KMT2B	OMIM:619934
HP:0008070	Sparse hair	84081	NSRP1	OMIM:620001
HP:0008070	Sparse hair	64131	XYLT1	ORPHA:1425
HP:0008070	Sparse hair	124583	CANT1	ORPHA:1425
HP:0008070	Sparse hair	55790	CSGALNACT1	ORPHA:1425
HP:0008070	Sparse hair	23404	EXOSC2	OMIM:617763
HP:0008070	Sparse hair	672	BRCA1	OMIM:617883
HP:0008070	Sparse hair	80169	CTC1	OMIM:612199
HP:0008070	Sparse hair	80169	CTC1	ORPHA:1775
HP:0008070	Sparse hair	55651	NHP2	ORPHA:1775
HP:0008070	Sparse hair	79650	USB1	ORPHA:1775
HP:0008070	Sparse hair	55135	WRAP53	ORPHA:1775
HP:0008070	Sparse hair	51750	RTEL1	ORPHA:1775
HP:0008070	Sparse hair	4869	NPM1	ORPHA:1775
HP:0008070	Sparse hair	55505	NOP10	ORPHA:1775
HP:0008070	Sparse hair	1736	DKC1	ORPHA:1775
HP:0008070	Sparse hair	7298	TYMS	ORPHA:1775
HP:0008070	Sparse hair	126792	B3GALT6	OMIM:615349
HP:0008070	Sparse hair	3229	HOXC13	OMIM:614931
HP:0008070	Sparse hair	25886	POC1A	OMIM:614813
HP:0002552	Trichodysplasia	51702	PADI3	ORPHA:1410
HP:0002552	Trichodysplasia	7053	TGM3	ORPHA:1410
HP:0002553	Highly arched eyebrow	11198	SUPT16H	ORPHA:261229
HP:0002553	Highly arched eyebrow	57680	CHD8	ORPHA:261229
HP:0002553	Highly arched eyebrow	8243	SMC1A	OMIM:300590
HP:0002553	Highly arched eyebrow	8243	SMC1A	OMIM:301044
HP:0002553	Highly arched eyebrow	8243	SMC1A	ORPHA:199
HP:0002553	Highly arched eyebrow	10128	LRPPRC	OMIM:220111
HP:0002553	Highly arched eyebrow	58499	ZNF462	ORPHA:502430
HP:0002553	Highly arched eyebrow	58499	ZNF462	OMIM:618619
HP:0002553	Highly arched eyebrow	8294	H4C9	OMIM:619951
HP:0002553	Highly arched eyebrow	50651	SLC45A1	OMIM:617532
HP:0002553	Highly arched eyebrow	9853	RUSC2	OMIM:617773
HP:0002553	Highly arched eyebrow	26128	KIFBP	OMIM:609460
HP:0002553	Highly arched eyebrow	23334	SZT2	OMIM:615476
HP:0002553	Highly arched eyebrow	6228	RPS23	OMIM:617412
HP:0002553	Highly arched eyebrow	5885	RAD21	OMIM:614701
HP:0002553	Highly arched eyebrow	5885	RAD21	ORPHA:199
HP:0002553	Highly arched eyebrow	55627	SMPD4	OMIM:618622
HP:0002553	Highly arched eyebrow	7360	UGP2	OMIM:618744
HP:0002553	Highly arched eyebrow	7021	TFAP2B	OMIM:169100
HP:0002553	Highly arched eyebrow	55777	MBD5	ORPHA:228402
HP:0002553	Highly arched eyebrow	55777	MBD5	OMIM:156200
HP:0002553	Highly arched eyebrow	55209	SETD5	ORPHA:404440
HP:0002553	Highly arched eyebrow	4125	MAN2B1	ORPHA:309282
HP:0002553	Highly arched eyebrow	9578	CDC42BPB	OMIM:619841
HP:0002553	Highly arched eyebrow	613	BCR	ORPHA:261330
HP:0002553	Highly arched eyebrow	1399	CRKL	ORPHA:261330
HP:0002553	Highly arched eyebrow	5594	MAPK1	ORPHA:261330
HP:0002553	Highly arched eyebrow	5594	MAPK1	OMIM:619087
HP:0002553	Highly arched eyebrow	80816	ASXL3	OMIM:615485
HP:0002553	Highly arched eyebrow	80816	ASXL3	ORPHA:352577
HP:0002553	Highly arched eyebrow	9442	MED27	OMIM:619286
HP:0002553	Highly arched eyebrow	23322	RPGRIP1L	ORPHA:220497
HP:0002553	Highly arched eyebrow	23322	RPGRIP1L	ORPHA:1454
HP:0002553	Highly arched eyebrow	4867	NPHP1	ORPHA:220497
HP:0002553	Highly arched eyebrow	65062	TMEM237	ORPHA:220497
HP:0002553	Highly arched eyebrow	65062	TMEM237	ORPHA:475
HP:0002553	Highly arched eyebrow	65062	TMEM237	OMIM:614424
HP:0002553	Highly arched eyebrow	65062	TMEM237	ORPHA:2318
HP:0002553	Highly arched eyebrow	4010	LMX1B	ORPHA:495818
HP:0002553	Highly arched eyebrow	6812	STXBP1	ORPHA:495818
HP:0002553	Highly arched eyebrow	55690	PACS1	OMIM:615009
HP:0002553	Highly arched eyebrow	55690	PACS1	ORPHA:329224
HP:0002553	Highly arched eyebrow	54806	AHI1	ORPHA:220493
HP:0002553	Highly arched eyebrow	54806	AHI1	ORPHA:475
HP:0002553	Highly arched eyebrow	54806	AHI1	OMIM:608629
HP:0002553	Highly arched eyebrow	56623	INPP5E	ORPHA:220493
HP:0002553	Highly arched eyebrow	56623	INPP5E	ORPHA:475
HP:0002553	Highly arched eyebrow	56623	INPP5E	OMIM:213300
HP:0002553	Highly arched eyebrow	56623	INPP5E	ORPHA:1454
HP:0002553	Highly arched eyebrow	153241	CEP120	ORPHA:220493
HP:0002553	Highly arched eyebrow	153241	CEP120	ORPHA:475
HP:0002553	Highly arched eyebrow	54903	MKS1	ORPHA:220493
HP:0002553	Highly arched eyebrow	54903	MKS1	ORPHA:475
HP:0002553	Highly arched eyebrow	54903	MKS1	OMIM:617121
HP:0002553	Highly arched eyebrow	95681	CEP41	ORPHA:220493
HP:0002553	Highly arched eyebrow	95681	CEP41	ORPHA:475
HP:0002553	Highly arched eyebrow	80055	PGAP1	OMIM:615802
HP:0002553	Highly arched eyebrow	24142	NAA80	OMIM:620830
HP:0002553	Highly arched eyebrow	23384	SPECC1L	ORPHA:1519
HP:0002553	Highly arched eyebrow	23384	SPECC1L	OMIM:145420
HP:0002553	Highly arched eyebrow	5818	NECTIN1	ORPHA:3253
HP:0002553	Highly arched eyebrow	29072	SETD2	OMIM:620157
HP:0002553	Highly arched eyebrow	29072	SETD2	OMIM:620155
HP:0002553	Highly arched eyebrow	55780	ERMARD	ORPHA:75857
HP:0002553	Highly arched eyebrow	10978	CLP1	OMIM:615803
HP:0002553	Highly arched eyebrow	10978	CLP1	ORPHA:411493
HP:0002553	Highly arched eyebrow	55636	CHD7	ORPHA:138
HP:0002553	Highly arched eyebrow	9723	SEMA3E	ORPHA:138
HP:0002553	Highly arched eyebrow	55650	PIGV	OMIM:239300
HP:0002553	Highly arched eyebrow	55650	PIGV	ORPHA:247262
HP:0002553	Highly arched eyebrow	6595	SMARCA2	OMIM:619293
HP:0002553	Highly arched eyebrow	6595	SMARCA2	ORPHA:3051
HP:0002553	Highly arched eyebrow	6197	RPS6KA3	OMIM:303600
HP:0002553	Highly arched eyebrow	1185	CLCN6	OMIM:619173
HP:0002553	Highly arched eyebrow	84992	PIGY	ORPHA:247262
HP:0002553	Highly arched eyebrow	84720	PIGO	ORPHA:247262
HP:0002553	Highly arched eyebrow	93210	PGAP3	ORPHA:247262
HP:0002553	Highly arched eyebrow	284098	PIGW	ORPHA:247262
HP:0002553	Highly arched eyebrow	27315	PGAP2	ORPHA:247262
HP:0002553	Highly arched eyebrow	9487	PIGL	ORPHA:247262
HP:0002553	Highly arched eyebrow	9487	PIGL	OMIM:280000
HP:0002553	Highly arched eyebrow	317662	FAM149B1	OMIM:618763
HP:0002553	Highly arched eyebrow	317662	FAM149B1	ORPHA:2754
HP:0002553	Highly arched eyebrow	10584	COLEC10	OMIM:248340
HP:0002553	Highly arched eyebrow	10584	COLEC10	ORPHA:293843
HP:0002553	Highly arched eyebrow	818	CAMK2G	OMIM:618522
HP:0002553	Highly arched eyebrow	80204	FBXO11	OMIM:618089
HP:0002553	Highly arched eyebrow	9469	CHST3	OMIM:143095
HP:0002553	Highly arched eyebrow	9469	CHST3	ORPHA:263463
HP:0002553	Highly arched eyebrow	54880	BCOR	ORPHA:2712
HP:0002553	Highly arched eyebrow	23184	MESD	OMIM:618644
HP:0002553	Highly arched eyebrow	93627	TBCK	OMIM:616900
HP:0002553	Highly arched eyebrow	23325	WASHC4	OMIM:615817
HP:0002553	Highly arched eyebrow	2260	FGFR1	ORPHA:3366
HP:0002553	Highly arched eyebrow	158326	FREM1	ORPHA:3366
HP:0002553	Highly arched eyebrow	9839	ZEB2	ORPHA:261552
HP:0002553	Highly arched eyebrow	10815	CPLX1	ORPHA:280
HP:0002553	Highly arched eyebrow	10815	CPLX1	OMIM:194190
HP:0002553	Highly arched eyebrow	10815	CPLX1	OMIM:617976
HP:0002553	Highly arched eyebrow	54872	PIGG	ORPHA:280
HP:0002553	Highly arched eyebrow	7469	NELFA	ORPHA:280
HP:0002553	Highly arched eyebrow	1487	CTBP1	ORPHA:280
HP:0002553	Highly arched eyebrow	1487	CTBP1	OMIM:194190
HP:0002553	Highly arched eyebrow	3954	LETM1	ORPHA:280
HP:0002553	Highly arched eyebrow	3954	LETM1	OMIM:194190
HP:0002553	Highly arched eyebrow	7468	NSD2	ORPHA:280
HP:0002553	Highly arched eyebrow	7468	NSD2	OMIM:194190
HP:0002553	Highly arched eyebrow	7468	NSD2	OMIM:619695
HP:0002553	Highly arched eyebrow	4330	MN1	OMIM:618774
HP:0002553	Highly arched eyebrow	1656	DDX6	OMIM:618653
HP:0002553	Highly arched eyebrow	4212	MEIS2	OMIM:600987
HP:0002553	Highly arched eyebrow	26053	AUTS2	ORPHA:352490
HP:0002553	Highly arched eyebrow	26053	AUTS2	OMIM:615834
HP:0002553	Highly arched eyebrow	55012	PPP2R3C	OMIM:618419
HP:0002553	Highly arched eyebrow	1009	CDH11	ORPHA:1299
HP:0002553	Highly arched eyebrow	1954	MEGF8	OMIM:614976
HP:0002553	Highly arched eyebrow	53834	FGFRL1	OMIM:194190
HP:0002553	Highly arched eyebrow	9851	KIAA0753	ORPHA:475
HP:0002553	Highly arched eyebrow	9851	KIAA0753	ORPHA:2754
HP:0002553	Highly arched eyebrow	5147	PDE6D	ORPHA:475
HP:0002553	Highly arched eyebrow	5147	PDE6D	ORPHA:2754
HP:0002553	Highly arched eyebrow	79600	TCTN1	ORPHA:475
HP:0002553	Highly arched eyebrow	79848	CSPP1	ORPHA:475
HP:0002553	Highly arched eyebrow	8481	OFD1	ORPHA:475
HP:0002553	Highly arched eyebrow	8481	OFD1	ORPHA:2754
HP:0002553	Highly arched eyebrow	51684	SUFU	ORPHA:475
HP:0002553	Highly arched eyebrow	65250	CPLANE1	ORPHA:475
HP:0002553	Highly arched eyebrow	65250	CPLANE1	ORPHA:2754
HP:0002553	Highly arched eyebrow	91147	TMEM67	ORPHA:475
HP:0002553	Highly arched eyebrow	91147	TMEM67	ORPHA:1454
HP:0002553	Highly arched eyebrow	200894	ARL13B	ORPHA:475
HP:0002553	Highly arched eyebrow	9731	CEP104	ORPHA:475
HP:0002553	Highly arched eyebrow	219844	HYLS1	ORPHA:475
HP:0002553	Highly arched eyebrow	23247	KATNIP	ORPHA:475
HP:0002553	Highly arched eyebrow	219854	TMEM218	ORPHA:475
HP:0002553	Highly arched eyebrow	9786	KIAA0586	ORPHA:475
HP:0002553	Highly arched eyebrow	26123	TCTN3	ORPHA:475
HP:0002553	Highly arched eyebrow	26123	TCTN3	ORPHA:2754
HP:0002553	Highly arched eyebrow	79867	TCTN2	ORPHA:475
HP:0002553	Highly arched eyebrow	80776	B9D2	ORPHA:475
HP:0002553	Highly arched eyebrow	10464	PIBF1	ORPHA:475
HP:0002553	Highly arched eyebrow	80210	ARMC9	ORPHA:475
HP:0002553	Highly arched eyebrow	23116	TOGARAM1	ORPHA:475
HP:0002553	Highly arched eyebrow	25776	CBY1	ORPHA:475
HP:0002553	Highly arched eyebrow	27077	B9D1	ORPHA:475
HP:0002553	Highly arched eyebrow	403	ARL3	ORPHA:475
HP:0002553	Highly arched eyebrow	403	ARL3	OMIM:618161
HP:0002553	Highly arched eyebrow	80173	IFT74	ORPHA:475
HP:0002553	Highly arched eyebrow	23126	POGZ	OMIM:616364
HP:0002553	Highly arched eyebrow	5792	PTPRF	OMIM:616001
HP:0002553	Highly arched eyebrow	51633	OTUD6B	OMIM:617452
HP:0002553	Highly arched eyebrow	51633	OTUD6B	ORPHA:505237
HP:0002553	Highly arched eyebrow	8363	H4C11	OMIM:619759
HP:0002553	Highly arched eyebrow	54499	TMCO1	OMIM:213980
HP:0002553	Highly arched eyebrow	78989	COLEC11	OMIM:265050
HP:0002553	Highly arched eyebrow	78989	COLEC11	ORPHA:293843
HP:0002553	Highly arched eyebrow	4089	SMAD4	OMIM:139210
HP:0002553	Highly arched eyebrow	10472	ZBTB18	OMIM:612337
HP:0002553	Highly arched eyebrow	9772	TMEM94	OMIM:618316
HP:0002553	Highly arched eyebrow	668	FOXL2	ORPHA:572333
HP:0002553	Highly arched eyebrow	668	FOXL2	OMIM:110100
HP:0002553	Highly arched eyebrow	3187	HNRNPH1	OMIM:620083
HP:0002553	Highly arched eyebrow	8573	CASK	ORPHA:163937
HP:0002553	Highly arched eyebrow	4123	MAN2C1	OMIM:619775
HP:0002553	Highly arched eyebrow	57479	PRR12	OMIM:619539
HP:0002553	Highly arched eyebrow	10735	STAG2	ORPHA:521258
HP:0002553	Highly arched eyebrow	23483	TGDS	ORPHA:1388
HP:0002553	Highly arched eyebrow	7994	KAT6A	OMIM:616268
HP:0002553	Highly arched eyebrow	25836	NIPBL	OMIM:122470
HP:0002553	Highly arched eyebrow	25836	NIPBL	ORPHA:199
HP:0002553	Highly arched eyebrow	85459	CEP295	OMIM:620767
HP:0002553	Highly arched eyebrow	79791	FBXO31	OMIM:615979
HP:0002553	Highly arched eyebrow	22856	CHSY1	OMIM:605282
HP:0002553	Highly arched eyebrow	117581	TWIST2	ORPHA:1807
HP:0002553	Highly arched eyebrow	8295	TRRAP	OMIM:618454
HP:0002553	Highly arched eyebrow	8621	CDK13	OMIM:617360
HP:0002553	Highly arched eyebrow	9427	ECEL1	OMIM:615065
HP:0002553	Highly arched eyebrow	84188	FAR1	OMIM:616154
HP:0002553	Highly arched eyebrow	84188	FAR1	ORPHA:438178
HP:0002553	Highly arched eyebrow	2703	GJA8	OMIM:612474
HP:0002553	Highly arched eyebrow	2702	GJA5	OMIM:612474
HP:0002553	Highly arched eyebrow	2033	EP300	OMIM:613684
HP:0002553	Highly arched eyebrow	2033	EP300	ORPHA:353284
HP:0002553	Highly arched eyebrow	2033	EP300	OMIM:180849
HP:0002553	Highly arched eyebrow	867	CBL	OMIM:613563
HP:0002553	Highly arched eyebrow	6878	TAF6	OMIM:617126
HP:0002553	Highly arched eyebrow	6878	TAF6	ORPHA:199
HP:0002553	Highly arched eyebrow	10664	CTCF	OMIM:615502
HP:0002553	Highly arched eyebrow	10664	CTCF	ORPHA:363611
HP:0002553	Highly arched eyebrow	6664	SOX11	OMIM:615866
HP:0002553	Highly arched eyebrow	5910	RAP1GDS1	OMIM:620655
HP:0002553	Highly arched eyebrow	9900	SV2A	OMIM:620772
HP:0002553	Highly arched eyebrow	157570	ESCO2	OMIM:216100
HP:0002553	Highly arched eyebrow	157570	ESCO2	ORPHA:2319
HP:0002553	Highly arched eyebrow	23013	SPEN	OMIM:619312
HP:0002553	Highly arched eyebrow	54892	NCAPG2	OMIM:618460
HP:0002553	Highly arched eyebrow	54517	PUS7	OMIM:618342
HP:0002553	Highly arched eyebrow	5648	MASP1	OMIM:257920
HP:0002553	Highly arched eyebrow	5648	MASP1	ORPHA:293843
HP:0002553	Highly arched eyebrow	9759	HDAC4	ORPHA:1001
HP:0002553	Highly arched eyebrow	9759	HDAC4	OMIM:600430
HP:0002553	Highly arched eyebrow	92335	STRADA	ORPHA:500533
HP:0002553	Highly arched eyebrow	6091	ROBO1	OMIM:620305
HP:0002553	Highly arched eyebrow	79813	EHMT1	ORPHA:96147
HP:0002553	Highly arched eyebrow	84320	ACBD6	OMIM:620785
HP:0002553	Highly arched eyebrow	23028	KDM1A	OMIM:616728
HP:0002553	Highly arched eyebrow	90459	ERI1	OMIM:620662
HP:0002553	Highly arched eyebrow	27125	AFF4	ORPHA:444077
HP:0002553	Highly arched eyebrow	55869	HDAC8	OMIM:300882
HP:0002553	Highly arched eyebrow	55869	HDAC8	ORPHA:199
HP:0002553	Highly arched eyebrow	1349	COX7B	OMIM:300887
HP:0002553	Highly arched eyebrow	29998	BICRA	OMIM:619325
HP:0002553	Highly arched eyebrow	113179	ADAT3	ORPHA:363528
HP:0002553	Highly arched eyebrow	3313	HSPA9	OMIM:616854
HP:0002553	Highly arched eyebrow	8085	KMT2D	ORPHA:2322
HP:0002553	Highly arched eyebrow	8085	KMT2D	OMIM:147920
HP:0002553	Highly arched eyebrow	7403	KDM6A	ORPHA:2322
HP:0002553	Highly arched eyebrow	7403	KDM6A	OMIM:300867
HP:0002553	Highly arched eyebrow	7403	KDM6A	OMIM:147920
HP:0002553	Highly arched eyebrow	998	CDC42	OMIM:616737
HP:0002553	Highly arched eyebrow	998	CDC42	ORPHA:487796
HP:0002553	Highly arched eyebrow	9126	SMC3	OMIM:610759
HP:0002553	Highly arched eyebrow	9126	SMC3	ORPHA:199
HP:0002553	Highly arched eyebrow	4297	KMT2A	OMIM:605130
HP:0002553	Highly arched eyebrow	56975	FAM20C	OMIM:259775
HP:0002553	Highly arched eyebrow	4784	NFIX	OMIM:602535
HP:0002553	Highly arched eyebrow	23221	RHOBTB2	OMIM:618004
HP:0002553	Highly arched eyebrow	4052	LTBP1	OMIM:619451
HP:0002553	Highly arched eyebrow	3756	KCNH1	OMIM:135500
HP:0002553	Highly arched eyebrow	166378	AFG2A	ORPHA:457351
HP:0002553	Highly arched eyebrow	11253	MAN1B1	OMIM:614202
HP:0002553	Highly arched eyebrow	23511	NUP188	OMIM:618804
HP:0002553	Highly arched eyebrow	23476	BRD4	OMIM:620568
HP:0002553	Highly arched eyebrow	23476	BRD4	ORPHA:199
HP:0002553	Highly arched eyebrow	26999	CYFIP2	OMIM:618008
HP:0002553	Highly arched eyebrow	79583	TMEM231	ORPHA:2318
HP:0002553	Highly arched eyebrow	79583	TMEM231	ORPHA:2754
HP:0002553	Highly arched eyebrow	51524	TMEM138	ORPHA:2318
HP:0002553	Highly arched eyebrow	23090	ZNF423	ORPHA:2318
HP:0002553	Highly arched eyebrow	80184	CEP290	ORPHA:2318
HP:0002553	Highly arched eyebrow	51259	TMEM216	ORPHA:2318
HP:0002553	Highly arched eyebrow	51259	TMEM216	ORPHA:2754
HP:0002553	Highly arched eyebrow	57545	CC2D2A	ORPHA:2318
HP:0002553	Highly arched eyebrow	57545	CC2D2A	ORPHA:1454
HP:0002553	Highly arched eyebrow	22827	PUF60	ORPHA:508488
HP:0002553	Highly arched eyebrow	6045	RNF2	OMIM:619460
HP:0002553	Highly arched eyebrow	9496	TBX4	ORPHA:261279
HP:0002553	Highly arched eyebrow	51305	KCNK9	ORPHA:166108
HP:0002553	Highly arched eyebrow	51305	KCNK9	OMIM:612292
HP:0002553	Highly arched eyebrow	6874	TAF4	OMIM:620450
HP:0002553	Highly arched eyebrow	60	ACTB	OMIM:243310
HP:0002553	Highly arched eyebrow	60	ACTB	ORPHA:2995
HP:0002553	Highly arched eyebrow	71	ACTG1	OMIM:614583
HP:0002553	Highly arched eyebrow	71	ACTG1	ORPHA:2995
HP:0002553	Highly arched eyebrow	348180	CTU2	OMIM:618142
HP:0002553	Highly arched eyebrow	94005	PIGS	OMIM:618143
HP:0002553	Highly arched eyebrow	1387	CREBBP	OMIM:180849
HP:0002553	Highly arched eyebrow	1387	CREBBP	ORPHA:592574
HP:0002553	Highly arched eyebrow	1387	CREBBP	ORPHA:353277
HP:0002553	Highly arched eyebrow	7204	TRIO	OMIM:618825
HP:0002553	Highly arched eyebrow	4762	NEUROG1	OMIM:620469
HP:0002553	Highly arched eyebrow	8405	SPOP	OMIM:618828
HP:0002553	Highly arched eyebrow	1457	CSNK2A1	OMIM:617062
HP:0002553	Highly arched eyebrow	2571	GAD1	OMIM:619124
HP:0002553	Highly arched eyebrow	55617	TASP1	OMIM:618950
HP:0002553	Highly arched eyebrow	8567	MADD	OMIM:619005
HP:0002553	Highly arched eyebrow	6472	SHMT2	OMIM:619121
HP:0002553	Highly arched eyebrow	29123	ANKRD11	ORPHA:261250
HP:0002553	Highly arched eyebrow	91875	TTC5	OMIM:619244
HP:0002553	Highly arched eyebrow	57688	ZSWIM6	OMIM:617865
HP:0002553	Highly arched eyebrow	5500	PPP1CB	OMIM:617506
HP:0002553	Highly arched eyebrow	113246	C12orf57	OMIM:218340
HP:0002553	Highly arched eyebrow	55691	FRMD4A	ORPHA:466688
HP:0002553	Highly arched eyebrow	55252	ASXL2	OMIM:617190
HP:0002553	Highly arched eyebrow	259266	ASPM	OMIM:608716
HP:0002553	Highly arched eyebrow	57020	VPS35L	OMIM:619135
HP:0002553	Highly arched eyebrow	5879	RAC1	OMIM:617751
HP:0002553	Highly arched eyebrow	5879	RAC1	ORPHA:500159
HP:0002553	Highly arched eyebrow	10210	TOPORS	ORPHA:2754
HP:0002553	Highly arched eyebrow	374654	KIF7	ORPHA:2754
HP:0002553	Highly arched eyebrow	7543	ZFX	OMIM:301118
HP:0002553	Highly arched eyebrow	9373	PLAA	OMIM:617527
HP:0002553	Highly arched eyebrow	3480	IGF1R	OMIM:270450
HP:0002553	Highly arched eyebrow	90952	ESAM	OMIM:620371
HP:0045075	Sparse eyebrow	3981	LIG4	ORPHA:235
HP:0045075	Sparse eyebrow	54888	NSUN2	ORPHA:235
HP:0045075	Sparse eyebrow	8367	H4C5	OMIM:619950
HP:0045075	Sparse eyebrow	126695	KDF1	OMIM:617337
HP:0045075	Sparse eyebrow	80232	WDR26	OMIM:617616
HP:0045075	Sparse eyebrow	80232	WDR26	ORPHA:513456
HP:0045075	Sparse eyebrow	5361	PLXNA1	OMIM:619955
HP:0045075	Sparse eyebrow	57511	COG6	ORPHA:363523
HP:0045075	Sparse eyebrow	10026	PIGK	OMIM:618879
HP:0045075	Sparse eyebrow	51111	KMT5B	OMIM:617788
HP:0045075	Sparse eyebrow	5500	PPP1CB	OMIM:617506
HP:0045075	Sparse eyebrow	112802	KRT71	ORPHA:170
HP:0045075	Sparse eyebrow	147183	KRT25	ORPHA:170
HP:0045075	Sparse eyebrow	10084	PQBP1	OMIM:309500
HP:0045075	Sparse eyebrow	3190	HNRNPK	OMIM:616580
HP:0045075	Sparse eyebrow	92255	LMBRD2	OMIM:619694
HP:0045075	Sparse eyebrow	9487	PIGL	OMIM:280000
HP:0045075	Sparse eyebrow	545	ATR	OMIM:614564
HP:0045075	Sparse eyebrow	23184	MESD	OMIM:618644
HP:0045075	Sparse eyebrow	6926	TBX3	OMIM:181450
HP:0045075	Sparse eyebrow	10524	KAT5	OMIM:619103
HP:0045075	Sparse eyebrow	341208	HEPHL1	OMIM:261990
HP:0045075	Sparse eyebrow	5813	PURA	ORPHA:314655
HP:0045075	Sparse eyebrow	23511	NUP188	OMIM:618804
HP:0045075	Sparse eyebrow	7994	KAT6A	OMIM:616268
HP:0045075	Sparse eyebrow	6925	TCF4	OMIM:610954
HP:0045075	Sparse eyebrow	6477	SIAH1	OMIM:619314
HP:0045075	Sparse eyebrow	7528	YY1	ORPHA:506358
HP:0045075	Sparse eyebrow	7528	YY1	OMIM:617557
HP:0045075	Sparse eyebrow	147495	APCDD1	OMIM:605389
HP:0045075	Sparse eyebrow	147495	APCDD1	ORPHA:55654
HP:0045075	Sparse eyebrow	11253	MAN1B1	ORPHA:397941
HP:0045075	Sparse eyebrow	11253	MAN1B1	OMIM:614202
HP:0045075	Sparse eyebrow	8925	HERC1	OMIM:617011
HP:0045075	Sparse eyebrow	8925	HERC1	ORPHA:457359
HP:0045075	Sparse eyebrow	8216	LZTR1	OMIM:616564
HP:0045075	Sparse eyebrow	8216	LZTR1	OMIM:605275
HP:0045075	Sparse eyebrow	1763	DNA2	OMIM:620819
HP:0045075	Sparse eyebrow	60529	ALX4	OMIM:613451
HP:0045075	Sparse eyebrow	100151683	RNU4ATAC	OMIM:210710
HP:0045075	Sparse eyebrow	2972	BRF1	OMIM:616202
HP:0045075	Sparse eyebrow	2972	BRF1	ORPHA:444072
HP:0045075	Sparse eyebrow	9759	HDAC4	ORPHA:1001
HP:0045075	Sparse eyebrow	57539	WDR35	OMIM:613610
HP:0045075	Sparse eyebrow	5894	RAF1	OMIM:611553
HP:0045075	Sparse eyebrow	8626	TP63	OMIM:604292
HP:0045075	Sparse eyebrow	8626	TP63	OMIM:129400
HP:0045075	Sparse eyebrow	8626	TP63	ORPHA:69085
HP:0045075	Sparse eyebrow	8626	TP63	ORPHA:1896
HP:0045075	Sparse eyebrow	79650	USB1	OMIM:604173
HP:0045075	Sparse eyebrow	9401	RECQL4	OMIM:268400
HP:0045075	Sparse eyebrow	9401	RECQL4	OMIM:266280
HP:0045075	Sparse eyebrow	2706	GJB2	OMIM:602540
HP:0045075	Sparse eyebrow	2706	GJB2	ORPHA:477
HP:0045075	Sparse eyebrow	2706	GJB2	OMIM:148210
HP:0045075	Sparse eyebrow	51360	MBTPS2	OMIM:308800
HP:0045075	Sparse eyebrow	267010	RNU12	OMIM:603116
HP:0045075	Sparse eyebrow	3728	JUP	OMIM:601214
HP:0045075	Sparse eyebrow	116931	MED12L	OMIM:618872
HP:0045075	Sparse eyebrow	9578	CDC42BPB	OMIM:619841
HP:0045075	Sparse eyebrow	3020	H3-3A	OMIM:619720
HP:0045075	Sparse eyebrow	6651	SON	OMIM:617140
HP:0045075	Sparse eyebrow	6651	SON	ORPHA:500150
HP:0045075	Sparse eyebrow	57520	HECW2	OMIM:617268
HP:0045075	Sparse eyebrow	89910	UBE3B	OMIM:244450
HP:0045075	Sparse eyebrow	1825	DSC3	OMIM:613102
HP:0045075	Sparse eyebrow	4953	ODC1	ORPHA:544488
HP:0045075	Sparse eyebrow	998	CDC42	OMIM:616737
HP:0045075	Sparse eyebrow	998	CDC42	ORPHA:487796
HP:0045075	Sparse eyebrow	3872	KRT17	OMIM:167210
HP:0045075	Sparse eyebrow	26128	KIFBP	ORPHA:66629
HP:0045075	Sparse eyebrow	9076	CLDN1	ORPHA:59303
HP:0045075	Sparse eyebrow	9076	CLDN1	OMIM:607626
HP:0045075	Sparse eyebrow	79158	GNPTAB	OMIM:252500
HP:0045075	Sparse eyebrow	6904	TBCD	ORPHA:496641
HP:0045075	Sparse eyebrow	6904	TBCD	OMIM:617193
HP:0045075	Sparse eyebrow	6595	SMARCA2	OMIM:619293
HP:0045075	Sparse eyebrow	16	AARS1	OMIM:619691
HP:0045075	Sparse eyebrow	1896	EDA	OMIM:305100
HP:0045075	Sparse eyebrow	6023	RMRP	ORPHA:175
HP:0045075	Sparse eyebrow	6023	RMRP	OMIM:250250
HP:0045075	Sparse eyebrow	23221	RHOBTB2	OMIM:618004
HP:0045075	Sparse eyebrow	9469	CHST3	ORPHA:263463
HP:0045075	Sparse eyebrow	9469	CHST3	OMIM:143095
HP:0045075	Sparse eyebrow	64324	NSD1	OMIM:117550
HP:0045075	Sparse eyebrow	54453	RIN2	OMIM:613075
HP:0045075	Sparse eyebrow	4141	MARS1	OMIM:619692
HP:0045075	Sparse eyebrow	9698	PUM1	OMIM:620719
HP:0045075	Sparse eyebrow	8260	NAA10	OMIM:300855
HP:0045075	Sparse eyebrow	10265	IRX5	OMIM:611174
HP:0045075	Sparse eyebrow	80204	FBXO11	OMIM:618089
HP:0045075	Sparse eyebrow	81857	MED25	ORPHA:464738
HP:0045075	Sparse eyebrow	23476	BRD4	OMIM:620568
HP:0045075	Sparse eyebrow	1801	DPH1	OMIM:616901
HP:0045075	Sparse eyebrow	1801	DPH1	ORPHA:459061
HP:0045075	Sparse eyebrow	22845	DOLK	OMIM:610768
HP:0045075	Sparse eyebrow	80326	WNT10A	OMIM:257980
HP:0045075	Sparse eyebrow	80326	WNT10A	OMIM:150400
HP:0045075	Sparse eyebrow	10804	GJB6	OMIM:129500
HP:0045075	Sparse eyebrow	10804	GJB6	ORPHA:477
HP:0045075	Sparse eyebrow	10804	GJB6	ORPHA:189
HP:0045075	Sparse eyebrow	6768	ST14	OMIM:602400
HP:0045075	Sparse eyebrow	1301	COL11A1	ORPHA:560
HP:0045075	Sparse eyebrow	9896	FIG4	ORPHA:3472
HP:0045075	Sparse eyebrow	9896	FIG4	OMIM:216340
HP:0045075	Sparse eyebrow	55697	VAC14	ORPHA:3472
HP:0045075	Sparse eyebrow	23028	KDM1A	ORPHA:477993
HP:0045075	Sparse eyebrow	4212	MEIS2	OMIM:600987
HP:0045075	Sparse eyebrow	10682	EBP	ORPHA:35173
HP:0045075	Sparse eyebrow	10682	EBP	OMIM:302960
HP:0045075	Sparse eyebrow	8550	MAPKAPK5	OMIM:619869
HP:0045075	Sparse eyebrow	55012	PPP2R3C	OMIM:618419
HP:0045075	Sparse eyebrow	1954	MEGF8	OMIM:614976
HP:0045075	Sparse eyebrow	55210	ATAD3A	OMIM:618810
HP:0045075	Sparse eyebrow	200734	SPRED2	OMIM:619745
HP:0045075	Sparse eyebrow	9419	CRIPT	OMIM:615789
HP:0045075	Sparse eyebrow	55623	THUMPD1	OMIM:619989
HP:0045075	Sparse eyebrow	374393	FAM111B	OMIM:615704
HP:0045075	Sparse eyebrow	6234	RPS28	OMIM:606164
HP:0045075	Sparse eyebrow	11285	B4GALT7	ORPHA:75496
HP:0045075	Sparse eyebrow	6611	SMS	ORPHA:3063
HP:0045075	Sparse eyebrow	6611	SMS	OMIM:309583
HP:0045075	Sparse eyebrow	200879	LIPH	OMIM:604379
HP:0045075	Sparse eyebrow	200879	LIPH	ORPHA:55654
HP:0045075	Sparse eyebrow	8092	ALX1	ORPHA:306542
HP:0045075	Sparse eyebrow	23126	POGZ	OMIM:616364
HP:0045075	Sparse eyebrow	7737	RNF113A	OMIM:300953
HP:0045075	Sparse eyebrow	1001	CDH3	OMIM:225280
HP:0045075	Sparse eyebrow	117581	TWIST2	OMIM:209885
HP:0045075	Sparse eyebrow	4035	LRP1	OMIM:604093
HP:0045075	Sparse eyebrow	10283	CWC27	OMIM:250410
HP:0045075	Sparse eyebrow	3845	KRAS	OMIM:609942
HP:0045075	Sparse eyebrow	11128	POLR3A	OMIM:264090
HP:0045075	Sparse eyebrow	3675	ITGA3	OMIM:614748
HP:0045075	Sparse eyebrow	8085	KMT2D	OMIM:620186
HP:0045075	Sparse eyebrow	8085	KMT2D	OMIM:147920
HP:0045075	Sparse eyebrow	8405	SPOP	OMIM:618829
HP:0045075	Sparse eyebrow	2697	GJA1	OMIM:104100
HP:0045075	Sparse eyebrow	2697	GJA1	ORPHA:1010
HP:0045075	Sparse eyebrow	128178	EDARADD	OMIM:129490
HP:0045075	Sparse eyebrow	128178	EDARADD	OMIM:224900
HP:0045075	Sparse eyebrow	10913	EDAR	OMIM:129490
HP:0045075	Sparse eyebrow	10913	EDAR	OMIM:224900
HP:0045075	Sparse eyebrow	4047	LSS	ORPHA:55654
HP:0045075	Sparse eyebrow	6144	RPL21	ORPHA:55654
HP:0045075	Sparse eyebrow	147409	DSG4	ORPHA:55654
HP:0045075	Sparse eyebrow	147409	DSG4	OMIM:607903
HP:0045075	Sparse eyebrow	6635	SNRPE	ORPHA:55654
HP:0045075	Sparse eyebrow	10161	LPAR6	ORPHA:55654
HP:0045075	Sparse eyebrow	10161	LPAR6	OMIM:278150
HP:0045075	Sparse eyebrow	51611	DPH5	OMIM:620070
HP:0045075	Sparse eyebrow	2571	GAD1	OMIM:619124
HP:0045075	Sparse eyebrow	10651	MTX2	OMIM:619127
HP:0045075	Sparse eyebrow	25959	KANK2	OMIM:616099
HP:0045075	Sparse eyebrow	1654	DDX3X	ORPHA:3338
HP:0045075	Sparse eyebrow	11005	SPINK5	OMIM:256500
HP:0045075	Sparse eyebrow	11005	SPINK5	ORPHA:634
HP:0045075	Sparse eyebrow	54676	GTPBP2	OMIM:617988
HP:0045075	Sparse eyebrow	79971	WLS	OMIM:619648
HP:0045075	Sparse eyebrow	84946	LTV1	OMIM:620199
HP:0045075	Sparse eyebrow	10430	TMEM147	OMIM:620075
HP:0045075	Sparse eyebrow	7480	WNT10B	OMIM:617073
HP:0045075	Sparse eyebrow	4081	MAB21L1	ORPHA:495875
HP:0045075	Sparse eyebrow	9968	MED12	OMIM:300895
HP:0045075	Sparse eyebrow	153241	CEP120	OMIM:616300
HP:0045075	Sparse eyebrow	4781	NFIB	OMIM:618286
HP:0045075	Sparse eyebrow	4763	NF1	ORPHA:139474
HP:0045075	Sparse eyebrow	1748	DLX4	OMIM:616788
HP:0045075	Sparse eyebrow	26047	CNTNAP2	OMIM:610042
HP:0045075	Sparse eyebrow	10735	STAG2	ORPHA:521258
HP:0045075	Sparse eyebrow	5818	NECTIN1	OMIM:225060
HP:0045075	Sparse eyebrow	84168	ANTXR1	OMIM:230740
HP:0045075	Sparse eyebrow	84168	ANTXR1	ORPHA:2067
HP:0045075	Sparse eyebrow	4000	LMNA	ORPHA:1662
HP:0045075	Sparse eyebrow	10269	ZMPSTE24	ORPHA:1662
HP:0045075	Sparse eyebrow	10269	ZMPSTE24	OMIM:275210
HP:0045075	Sparse eyebrow	8815	BANF1	OMIM:614008
HP:0045075	Sparse eyebrow	51574	LARP7	ORPHA:319671
HP:0045075	Sparse eyebrow	121391	KRT74	OMIM:614929
HP:0045075	Sparse eyebrow	1832	DSP	OMIM:605676
HP:0045075	Sparse eyebrow	120766137	HRURF	OMIM:146550
HP:0045075	Sparse eyebrow	6655	SOS2	OMIM:616559
HP:0045075	Sparse eyebrow	10664	CTCF	OMIM:615502
HP:0045075	Sparse eyebrow	5908	RAP1B	OMIM:620654
HP:0045075	Sparse eyebrow	6654	SOS1	OMIM:610733
HP:0045075	Sparse eyebrow	1802	DPH2	ORPHA:459061
HP:0045075	Sparse eyebrow	3720	JARID2	OMIM:620098
HP:0045075	Sparse eyebrow	84181	CHD6	ORPHA:2108
HP:0045075	Sparse eyebrow	7403	KDM6A	OMIM:147920
HP:0045075	Sparse eyebrow	7227	TRPS1	ORPHA:77258
HP:0002555	Absent pubic hair	10804	GJB6	ORPHA:189
HP:0002555	Absent pubic hair	10804	GJB6	OMIM:129500
HP:0002555	Absent pubic hair	2796	GNRH1	OMIM:614841
HP:0002555	Absent pubic hair	3691	ITGB4	OMIM:619816
HP:0002555	Absent pubic hair	79574	EPS8L3	OMIM:612841
HP:0002555	Absent pubic hair	2706	GJB2	OMIM:148210
HP:0002555	Absent pubic hair	2516	NR5A1	OMIM:612964
HP:0002555	Absent pubic hair	55806	HR	OMIM:203655
HP:0002555	Absent pubic hair	367	AR	ORPHA:99429
HP:0002555	Absent pubic hair	1586	CYP17A1	ORPHA:90793
HP:0002209	Sparse scalp hair	875	CBS	ORPHA:394
HP:0002209	Sparse scalp hair	8036	SHOC2	OMIM:607721
HP:0002209	Sparse scalp hair	8036	SHOC2	ORPHA:2701
HP:0002209	Sparse scalp hair	23394	ADNP	ORPHA:404448
HP:0002209	Sparse scalp hair	54084	TSPEAR	OMIM:618180
HP:0002209	Sparse scalp hair	1763	DNA2	OMIM:620819
HP:0002209	Sparse scalp hair	1763	DNA2	ORPHA:808
HP:0002209	Sparse scalp hair	81607	NECTIN4	OMIM:613573
HP:0002209	Sparse scalp hair	100151683	RNU4ATAC	OMIM:210710
HP:0002209	Sparse scalp hair	10054	UBA2	OMIM:619959
HP:0002209	Sparse scalp hair	9759	HDAC4	ORPHA:1001
HP:0002209	Sparse scalp hair	775	CACNA1C	OMIM:620029
HP:0002209	Sparse scalp hair	128178	EDARADD	OMIM:614941
HP:0002209	Sparse scalp hair	8626	TP63	OMIM:604292
HP:0002209	Sparse scalp hair	8626	TP63	OMIM:103285
HP:0002209	Sparse scalp hair	8626	TP63	ORPHA:978
HP:0002209	Sparse scalp hair	4047	LSS	ORPHA:2850
HP:0002209	Sparse scalp hair	4047	LSS	ORPHA:55654
HP:0002209	Sparse scalp hair	197	AHSG	ORPHA:2850
HP:0002209	Sparse scalp hair	3694	ITGB6	ORPHA:2850
HP:0002209	Sparse scalp hair	9401	RECQL4	OMIM:268400
HP:0002209	Sparse scalp hair	9401	RECQL4	OMIM:266280
HP:0002209	Sparse scalp hair	2706	GJB2	OMIM:602540
HP:0002209	Sparse scalp hair	197131	UBR1	OMIM:243800
HP:0002209	Sparse scalp hair	267010	RNU12	OMIM:603116
HP:0002209	Sparse scalp hair	3728	JUP	ORPHA:34217
HP:0002209	Sparse scalp hair	54453	RIN2	ORPHA:217335
HP:0002209	Sparse scalp hair	9578	CDC42BPB	OMIM:619841
HP:0002209	Sparse scalp hair	29998	BICRA	OMIM:619325
HP:0002209	Sparse scalp hair	6144	RPL21	OMIM:615885
HP:0002209	Sparse scalp hair	6144	RPL21	ORPHA:55654
HP:0002209	Sparse scalp hair	4792	NFKBIA	OMIM:612132
HP:0002209	Sparse scalp hair	54345	SOX18	ORPHA:69735
HP:0002209	Sparse scalp hair	54345	SOX18	OMIM:607823
HP:0002209	Sparse scalp hair	54345	SOX18	OMIM:137940
HP:0002209	Sparse scalp hair	1825	DSC3	OMIM:613102
HP:0002209	Sparse scalp hair	121391	KRT74	OMIM:613981
HP:0002209	Sparse scalp hair	121391	KRT74	ORPHA:90368
HP:0002209	Sparse scalp hair	121391	KRT74	OMIM:614929
HP:0002209	Sparse scalp hair	4953	ODC1	ORPHA:544488
HP:0002209	Sparse scalp hair	4953	ODC1	OMIM:619075
HP:0002209	Sparse scalp hair	4000	LMNA	OMIM:248370
HP:0002209	Sparse scalp hair	3872	KRT17	OMIM:167210
HP:0002209	Sparse scalp hair	26128	KIFBP	ORPHA:66629
HP:0002209	Sparse scalp hair	9076	CLDN1	ORPHA:59303
HP:0002209	Sparse scalp hair	4952	OCRL	ORPHA:534
HP:0002209	Sparse scalp hair	6595	SMARCA2	OMIM:619293
HP:0002209	Sparse scalp hair	6595	SMARCA2	OMIM:601358
HP:0002209	Sparse scalp hair	84196	USP48	ORPHA:96253
HP:0002209	Sparse scalp hair	7157	TP53	ORPHA:96253
HP:0002209	Sparse scalp hair	9101	USP8	ORPHA:96253
HP:0002209	Sparse scalp hair	64072	CDH23	ORPHA:96253
HP:0002209	Sparse scalp hair	2908	NR3C1	ORPHA:96253
HP:0002209	Sparse scalp hair	673	BRAF	ORPHA:96253
HP:0002209	Sparse scalp hair	673	BRAF	ORPHA:840
HP:0002209	Sparse scalp hair	546	ATRX	ORPHA:96253
HP:0002209	Sparse scalp hair	57492	ARID1B	OMIM:135900
HP:0002209	Sparse scalp hair	57492	ARID1B	ORPHA:1465
HP:0002209	Sparse scalp hair	6601	SMARCC2	OMIM:618362
HP:0002209	Sparse scalp hair	6601	SMARCC2	ORPHA:1465
HP:0002209	Sparse scalp hair	23522	KAT6B	OMIM:606170
HP:0002209	Sparse scalp hair	23522	KAT6B	ORPHA:85201
HP:0002209	Sparse scalp hair	1041	CDSN	OMIM:146520
HP:0002209	Sparse scalp hair	1041	CDSN	ORPHA:90368
HP:0002209	Sparse scalp hair	6597	SMARCA4	ORPHA:1465
HP:0002209	Sparse scalp hair	6597	SMARCA4	OMIM:614609
HP:0002209	Sparse scalp hair	6598	SMARCB1	ORPHA:1465
HP:0002209	Sparse scalp hair	6598	SMARCB1	OMIM:614608
HP:0002209	Sparse scalp hair	6659	SOX4	ORPHA:1465
HP:0002209	Sparse scalp hair	8289	ARID1A	ORPHA:1465
HP:0002209	Sparse scalp hair	8289	ARID1A	OMIM:614607
HP:0002209	Sparse scalp hair	5977	DPF2	ORPHA:1465
HP:0002209	Sparse scalp hair	5977	DPF2	OMIM:618027
HP:0002209	Sparse scalp hair	6602	SMARCD1	ORPHA:1465
HP:0002209	Sparse scalp hair	196528	ARID2	ORPHA:1465
HP:0002209	Sparse scalp hair	6605	SMARCE1	ORPHA:1465
HP:0002209	Sparse scalp hair	6605	SMARCE1	OMIM:616938
HP:0002209	Sparse scalp hair	6664	SOX11	ORPHA:1465
HP:0002209	Sparse scalp hair	6664	SOX11	OMIM:615866
HP:0002209	Sparse scalp hair	81857	MED25	ORPHA:464738
HP:0002209	Sparse scalp hair	1801	DPH1	OMIM:616901
HP:0002209	Sparse scalp hair	1801	DPH1	ORPHA:459061
HP:0002209	Sparse scalp hair	80326	WNT10A	OMIM:257980
HP:0002209	Sparse scalp hair	80326	WNT10A	OMIM:150400
HP:0002209	Sparse scalp hair	1001	CDH3	OMIM:601553
HP:0002209	Sparse scalp hair	1001	CDH3	ORPHA:1573
HP:0002209	Sparse scalp hair	1001	CDH3	OMIM:225280
HP:0002209	Sparse scalp hair	1001	CDH3	ORPHA:1897
HP:0002209	Sparse scalp hair	79574	EPS8L3	ORPHA:444
HP:0002209	Sparse scalp hair	55806	HR	ORPHA:444
HP:0002209	Sparse scalp hair	7703	PCGF2	OMIM:618371
HP:0002209	Sparse scalp hair	857	CAV1	OMIM:606721
HP:0002209	Sparse scalp hair	9896	FIG4	ORPHA:3472
HP:0002209	Sparse scalp hair	9896	FIG4	OMIM:216340
HP:0002209	Sparse scalp hair	55697	VAC14	ORPHA:3472
HP:0002209	Sparse scalp hair	23028	KDM1A	ORPHA:477993
HP:0002209	Sparse scalp hair	5500	PPP1CB	ORPHA:2701
HP:0002209	Sparse scalp hair	4914	NTRK1	OMIM:256800
HP:0002209	Sparse scalp hair	2783	GNB2	OMIM:619503
HP:0002209	Sparse scalp hair	1474	CST6	OMIM:618535
HP:0002209	Sparse scalp hair	5116	PCNT	OMIM:210720
HP:0002209	Sparse scalp hair	5116	PCNT	ORPHA:808
HP:0002209	Sparse scalp hair	9419	CRIPT	OMIM:615789
HP:0002209	Sparse scalp hair	79669	C3orf52	OMIM:620177
HP:0002209	Sparse scalp hair	11285	B4GALT7	ORPHA:75496
HP:0002209	Sparse scalp hair	11285	B4GALT7	OMIM:130070
HP:0002209	Sparse scalp hair	1802	DPH2	OMIM:620062
HP:0002209	Sparse scalp hair	1802	DPH2	ORPHA:459061
HP:0002209	Sparse scalp hair	3981	LIG4	ORPHA:235
HP:0002209	Sparse scalp hair	54888	NSUN2	ORPHA:235
HP:0002209	Sparse scalp hair	8313	AXIN2	OMIM:608615
HP:0002209	Sparse scalp hair	200879	LIPH	OMIM:604379
HP:0002209	Sparse scalp hair	200879	LIPH	ORPHA:55654
HP:0002209	Sparse scalp hair	10526	IPO8	OMIM:619472
HP:0002209	Sparse scalp hair	147183	KRT25	OMIM:616760
HP:0002209	Sparse scalp hair	55505	NOP10	OMIM:224230
HP:0002209	Sparse scalp hair	55651	NHP2	OMIM:224230
HP:0002209	Sparse scalp hair	29957	SLC25A24	OMIM:612289
HP:0002209	Sparse scalp hair	3122	HLA-DRA	ORPHA:505
HP:0002209	Sparse scalp hair	11128	POLR3A	OMIM:264090
HP:0002209	Sparse scalp hair	11128	POLR3A	ORPHA:3455
HP:0002209	Sparse scalp hair	3675	ITGA3	OMIM:614748
HP:0002209	Sparse scalp hair	7486	WRN	ORPHA:902
HP:0002209	Sparse scalp hair	2131	EXT1	ORPHA:502
HP:0002209	Sparse scalp hair	5885	RAD21	ORPHA:502
HP:0002209	Sparse scalp hair	7227	TRPS1	ORPHA:502
HP:0002209	Sparse scalp hair	7227	TRPS1	OMIM:190350
HP:0002209	Sparse scalp hair	10804	GJB6	ORPHA:189
HP:0002209	Sparse scalp hair	147495	APCDD1	ORPHA:55654
HP:0002209	Sparse scalp hair	147409	DSG4	ORPHA:55654
HP:0002209	Sparse scalp hair	6635	SNRPE	ORPHA:55654
HP:0002209	Sparse scalp hair	10161	LPAR6	ORPHA:55654
HP:0002209	Sparse scalp hair	10161	LPAR6	OMIM:278150
HP:0002209	Sparse scalp hair	51360	MBTPS2	OMIM:308205
HP:0002209	Sparse scalp hair	26137	ZBTB20	OMIM:259050
HP:0002209	Sparse scalp hair	4094	MAF	ORPHA:1272
HP:0002209	Sparse scalp hair	4094	MAF	OMIM:601088
HP:0002209	Sparse scalp hair	25959	KANK2	OMIM:616099
HP:0002209	Sparse scalp hair	11005	SPINK5	OMIM:256500
HP:0002209	Sparse scalp hair	11005	SPINK5	ORPHA:634
HP:0002209	Sparse scalp hair	79971	WLS	OMIM:619648
HP:0002209	Sparse scalp hair	84946	LTV1	OMIM:620199
HP:0002209	Sparse scalp hair	126792	B3GALT6	OMIM:271640
HP:0002209	Sparse scalp hair	126792	B3GALT6	OMIM:615349
HP:0002209	Sparse scalp hair	10848	PPP1R13L	OMIM:620519
HP:0002209	Sparse scalp hair	1984	EIF5A	OMIM:619376
HP:0002209	Sparse scalp hair	8815	BANF1	OMIM:614008
HP:0002209	Sparse scalp hair	545	ATR	ORPHA:808
HP:0002209	Sparse scalp hair	1062	CENPE	ORPHA:808
HP:0002209	Sparse scalp hair	5932	RBBP8	ORPHA:808
HP:0002209	Sparse scalp hair	79902	NUP85	ORPHA:808
HP:0002209	Sparse scalp hair	84126	ATRIP	ORPHA:808
HP:0002209	Sparse scalp hair	10293	TRAIP	ORPHA:808
HP:0002209	Sparse scalp hair	22995	CEP152	ORPHA:808
HP:0002209	Sparse scalp hair	10733	PLK4	ORPHA:808
HP:0002209	Sparse scalp hair	404672	GTF2H5	ORPHA:33364
HP:0002209	Sparse scalp hair	833	CARS1	ORPHA:33364
HP:0002209	Sparse scalp hair	2068	ERCC2	ORPHA:33364
HP:0002209	Sparse scalp hair	7737	RNF113A	ORPHA:33364
HP:0002209	Sparse scalp hair	136647	MPLKIP	ORPHA:33364
HP:0002209	Sparse scalp hair	6897	TARS1	ORPHA:33364
HP:0002209	Sparse scalp hair	16	AARS1	ORPHA:33364
HP:0002209	Sparse scalp hair	2071	ERCC3	ORPHA:33364
HP:0002209	Sparse scalp hair	2961	GTF2E2	ORPHA:33364
HP:0002209	Sparse scalp hair	51750	RTEL1	ORPHA:3322
HP:0002209	Sparse scalp hair	65057	ACD	ORPHA:3322
HP:0002209	Sparse scalp hair	5073	PARN	ORPHA:3322
HP:0002209	Sparse scalp hair	7015	TERT	ORPHA:3322
HP:0002209	Sparse scalp hair	26277	TINF2	ORPHA:3322
HP:0002209	Sparse scalp hair	1736	DKC1	ORPHA:3322
HP:0002209	Sparse scalp hair	9742	IFT140	OMIM:266920
HP:0002209	Sparse scalp hair	54101	RIPK4	OMIM:263650
HP:0002209	Sparse scalp hair	5587	PRKD1	OMIM:617364
HP:0002209	Sparse scalp hair	355	FAS	ORPHA:3437
HP:0002209	Sparse scalp hair	26191	PTPN22	ORPHA:3437
HP:0002209	Sparse scalp hair	120766137	HRURF	OMIM:146550
HP:0002209	Sparse scalp hair	25871	NEPRO	OMIM:618853
HP:0002209	Sparse scalp hair	2697	GJA1	ORPHA:1010
HP:0002209	Sparse scalp hair	64858	DCLRE1B	OMIM:620133
HP:0002209	Sparse scalp hair	3480	IGF1R	OMIM:270450
HP:0002209	Sparse scalp hair	64324	NSD1	ORPHA:821
HP:0002209	Sparse scalp hair	10297	APC2	ORPHA:821
HP:0002557	Hypoplastic nipples	23476	BRD4	ORPHA:199
HP:0002557	Hypoplastic nipples	9126	SMC3	ORPHA:199
HP:0002557	Hypoplastic nipples	8243	SMC1A	ORPHA:199
HP:0002557	Hypoplastic nipples	6878	TAF6	ORPHA:199
HP:0002557	Hypoplastic nipples	25836	NIPBL	ORPHA:199
HP:0002557	Hypoplastic nipples	25836	NIPBL	OMIM:122470
HP:0002557	Hypoplastic nipples	55869	HDAC8	ORPHA:199
HP:0002557	Hypoplastic nipples	5885	RAD21	ORPHA:199
HP:0002557	Hypoplastic nipples	64840	PORCN	OMIM:305600
HP:0002557	Hypoplastic nipples	57003	CCDC47	OMIM:618268
HP:0002557	Hypoplastic nipples	5792	PTPRF	OMIM:616001
HP:0002557	Hypoplastic nipples	23135	KDM6B	OMIM:618505
HP:0002557	Hypoplastic nipples	29957	SLC25A24	OMIM:612289
HP:0002557	Hypoplastic nipples	117581	TWIST2	OMIM:209885
HP:0002557	Hypoplastic nipples	117581	TWIST2	OMIM:200110
HP:0002557	Hypoplastic nipples	117581	TWIST2	ORPHA:1231
HP:0002557	Hypoplastic nipples	8239	USP9X	ORPHA:480880
HP:0002557	Hypoplastic nipples	5828	PEX2	OMIM:614866
HP:0002557	Hypoplastic nipples	128178	EDARADD	OMIM:614941
HP:0002557	Hypoplastic nipples	8626	TP63	OMIM:604292
HP:0002557	Hypoplastic nipples	8626	TP63	ORPHA:978
HP:0002557	Hypoplastic nipples	8626	TP63	OMIM:103285
HP:0002557	Hypoplastic nipples	8626	TP63	OMIM:603543
HP:0002557	Hypoplastic nipples	8626	TP63	ORPHA:69085
HP:0002557	Hypoplastic nipples	8085	KMT2D	OMIM:620186
HP:0002557	Hypoplastic nipples	8085	KMT2D	OMIM:147920
HP:0002557	Hypoplastic nipples	79796	ALG9	ORPHA:79328
HP:0002557	Hypoplastic nipples	4247	MGAT2	ORPHA:79329
HP:0002557	Hypoplastic nipples	197131	UBR1	OMIM:243800
HP:0002557	Hypoplastic nipples	203068	TUBB	OMIM:156610
HP:0002557	Hypoplastic nipples	388015	RTL1	ORPHA:96334
HP:0002557	Hypoplastic nipples	8788	DLK1	ORPHA:96334
HP:0002557	Hypoplastic nipples	55384	MEG3	ORPHA:96334
HP:0002557	Hypoplastic nipples	6926	TBX3	ORPHA:3138
HP:0002557	Hypoplastic nipples	6926	TBX3	OMIM:181450
HP:0002557	Hypoplastic nipples	1146	CHRNG	OMIM:265000
HP:0002557	Hypoplastic nipples	1896	EDA	OMIM:305100
HP:0002557	Hypoplastic nipples	56992	KIF15	ORPHA:261323
HP:0002557	Hypoplastic nipples	10020	GNE	OMIM:269921
HP:0002557	Hypoplastic nipples	9487	PIGL	OMIM:280000
HP:0002557	Hypoplastic nipples	84168	ANTXR1	OMIM:230740
HP:0002557	Hypoplastic nipples	7476	WNT7A	OMIM:276820
HP:0002557	Hypoplastic nipples	3858	KRT10	OMIM:609165
HP:0002557	Hypoplastic nipples	9896	FIG4	OMIM:216340
HP:0002557	Hypoplastic nipples	1954	MEGF8	OMIM:614976
HP:0002557	Hypoplastic nipples	79633	FAT4	OMIM:615546
HP:0002557	Hypoplastic nipples	8517	IKBKG	OMIM:308300
HP:0002557	Hypoplastic nipples	26040	SETBP1	OMIM:269150
HP:0002557	Hypoplastic nipples	7403	KDM6A	OMIM:147920
HP:0002558	Supernumerary nipple	9653	HS2ST1	OMIM:619194
HP:0002558	Supernumerary nipple	64840	PORCN	OMIM:305600
HP:0002558	Supernumerary nipple	10771	ZMYND11	OMIM:616083
HP:0002558	Supernumerary nipple	8294	H4C9	OMIM:619951
HP:0002558	Supernumerary nipple	10765	KDM5B	OMIM:618109
HP:0002558	Supernumerary nipple	5648	MASP1	OMIM:257920
HP:0002558	Supernumerary nipple	5648	MASP1	ORPHA:293843
HP:0002558	Supernumerary nipple	10054	UBA2	OMIM:619959
HP:0002558	Supernumerary nipple	57514	ARHGAP31	OMIM:100300
HP:0002558	Supernumerary nipple	60	ACTB	ORPHA:64755
HP:0002558	Supernumerary nipple	9759	HDAC4	ORPHA:1001
HP:0002558	Supernumerary nipple	4191	MDH2	OMIM:617339
HP:0002558	Supernumerary nipple	8626	TP63	OMIM:129400
HP:0002558	Supernumerary nipple	8626	TP63	OMIM:106260
HP:0002558	Supernumerary nipple	23028	KDM1A	OMIM:616728
HP:0002558	Supernumerary nipple	23028	KDM1A	ORPHA:477993
HP:0002558	Supernumerary nipple	54499	TMCO1	OMIM:213980
HP:0002558	Supernumerary nipple	9839	ZEB2	OMIM:235730
HP:0002558	Supernumerary nipple	6925	TCF4	ORPHA:2896
HP:0002558	Supernumerary nipple	6925	TCF4	OMIM:610954
HP:0002558	Supernumerary nipple	8517	IKBKG	ORPHA:464
HP:0002558	Supernumerary nipple	8517	IKBKG	OMIM:308300
HP:0002558	Supernumerary nipple	3190	HNRNPK	ORPHA:453504
HP:0002558	Supernumerary nipple	3190	HNRNPK	OMIM:616580
HP:0002558	Supernumerary nipple	3190	HNRNPK	ORPHA:352665
HP:0002558	Supernumerary nipple	79848	CSPP1	ORPHA:397715
HP:0002558	Supernumerary nipple	9786	KIAA0586	ORPHA:397715
HP:0002558	Supernumerary nipple	80816	ASXL3	OMIM:615485
HP:0002558	Supernumerary nipple	23112	TNRC6B	OMIM:619243
HP:0002558	Supernumerary nipple	10220	GDF11	OMIM:619122
HP:0002558	Supernumerary nipple	1723	DHODH	OMIM:263750
HP:0002558	Supernumerary nipple	1723	DHODH	ORPHA:246
HP:0002558	Supernumerary nipple	283489	CHAMP1	OMIM:616579
HP:0002558	Supernumerary nipple	150468	CKAP2L	ORPHA:3255
HP:0002558	Supernumerary nipple	4841	NONO	ORPHA:466791
HP:0002558	Supernumerary nipple	2239	GPC4	ORPHA:373
HP:0002558	Supernumerary nipple	2239	GPC4	OMIM:312870
HP:0002558	Supernumerary nipple	2719	GPC3	ORPHA:373
HP:0002558	Supernumerary nipple	2719	GPC3	OMIM:312870
HP:0002558	Supernumerary nipple	84992	PIGY	ORPHA:247262
HP:0002558	Supernumerary nipple	84720	PIGO	ORPHA:247262
HP:0002558	Supernumerary nipple	93210	PGAP3	ORPHA:247262
HP:0002558	Supernumerary nipple	284098	PIGW	ORPHA:247262
HP:0002558	Supernumerary nipple	27315	PGAP2	ORPHA:247262
HP:0002558	Supernumerary nipple	55650	PIGV	ORPHA:247262
HP:0002558	Supernumerary nipple	9487	PIGL	ORPHA:247262
HP:0002558	Supernumerary nipple	5528	PPP2R5D	ORPHA:457279
HP:0002558	Supernumerary nipple	10274	STAG1	OMIM:617635
HP:0002558	Supernumerary nipple	7021	TFAP2B	ORPHA:46627
HP:0002558	Supernumerary nipple	10584	COLEC10	ORPHA:293843
HP:0002558	Supernumerary nipple	78989	COLEC11	ORPHA:293843
HP:0002558	Supernumerary nipple	1000	CDH2	OMIM:618929
HP:0002558	Supernumerary nipple	7020	TFAP2A	OMIM:113620
HP:0002558	Supernumerary nipple	171023	ASXL1	OMIM:605039
HP:0002558	Supernumerary nipple	3845	KRAS	OMIM:600268
HP:0002558	Supernumerary nipple	54476	RNF216	ORPHA:1173
HP:0002558	Supernumerary nipple	10908	PNPLA6	ORPHA:1173
HP:0002558	Supernumerary nipple	8295	TRRAP	OMIM:618454
HP:0002558	Supernumerary nipple	1656	DDX6	OMIM:618653
HP:0002558	Supernumerary nipple	57728	WDR19	OMIM:614376
HP:0002558	Supernumerary nipple	1954	MEGF8	OMIM:614976
HP:0002558	Supernumerary nipple	3720	JARID2	OMIM:620098
HP:0020132	Thickening of the tubular basement membrane	51473	DCDC2	ORPHA:84081
HP:0020132	Thickening of the tubular basement membrane	91147	TMEM67	ORPHA:84081
HP:0020132	Thickening of the tubular basement membrane	4867	NPHP1	OMIM:266900
HP:0020132	Thickening of the tubular basement membrane	29927	SEC61A1	OMIM:617056
HP:0020131	Abnormal tubular basement membrane morphology	63929	XPNPEP3	OMIM:613159
HP:0020131	Abnormal tubular basement membrane morphology	4582	MUC1	OMIM:174000
HP:0020131	Abnormal tubular basement membrane morphology	4867	NPHP1	OMIM:256100
HP:0020131	Abnormal tubular basement membrane morphology	91147	TMEM67	OMIM:613550
HP:0020131	Abnormal tubular basement membrane morphology	51473	DCDC2	ORPHA:84081
HP:0020131	Abnormal tubular basement membrane morphology	29927	SEC61A1	OMIM:617056
HP:0020136	Anticardiolipin IgG antibody positivity	5580	PRKCD	OMIM:615559
HP:0020136	Anticardiolipin IgG antibody positivity	50619	DEF6	OMIM:619573
HP:0020135	Myofibromatosis	5159	PDGFRB	OMIM:228550
HP:0020135	Myofibromatosis	5159	PDGFRB	OMIM:616592
HP:0020135	Myofibromatosis	4854	NOTCH3	OMIM:615293
HP:0002561	Absent nipple	9896	FIG4	OMIM:216340
HP:0002561	Absent nipple	1896	EDA	OMIM:305100
HP:0002561	Absent nipple	8626	TP63	ORPHA:69085
HP:0002561	Absent nipple	8626	TP63	ORPHA:978
HP:0002561	Absent nipple	8626	TP63	OMIM:103285
HP:0002561	Absent nipple	340419	RSPO2	OMIM:618021
HP:0002561	Absent nipple	5792	PTPRF	OMIM:616001
HP:0002561	Absent nipple	128178	EDARADD	OMIM:614940
HP:0002561	Absent nipple	128178	EDARADD	OMIM:614941
HP:0002561	Absent nipple	29957	SLC25A24	OMIM:612289
HP:0002561	Absent nipple	117581	TWIST2	OMIM:209885
HP:0002561	Absent nipple	1009	CDH11	ORPHA:1299
HP:0002561	Absent nipple	8085	KMT2D	OMIM:620186
HP:0002561	Absent nipple	8085	KMT2D	OMIM:147920
HP:0002561	Absent nipple	7403	KDM6A	OMIM:147920
HP:0002562	Low-set nipples	9487	PIGL	OMIM:280000
HP:0002562	Low-set nipples	7994	KAT6A	OMIM:616268
HP:0002562	Low-set nipples	404672	GTF2H5	ORPHA:33364
HP:0002562	Low-set nipples	833	CARS1	ORPHA:33364
HP:0002562	Low-set nipples	2068	ERCC2	ORPHA:33364
HP:0002562	Low-set nipples	7737	RNF113A	ORPHA:33364
HP:0002562	Low-set nipples	136647	MPLKIP	ORPHA:33364
HP:0002562	Low-set nipples	6897	TARS1	ORPHA:33364
HP:0002562	Low-set nipples	16	AARS1	ORPHA:33364
HP:0002562	Low-set nipples	2071	ERCC3	ORPHA:33364
HP:0002562	Low-set nipples	2961	GTF2E2	ORPHA:33364
HP:0002562	Low-set nipples	3020	H3-3A	OMIM:619720
HP:0002563	Constrictive pericarditis	10216	PRG4	OMIM:208250
HP:0030680	Abnormal cardiovascular system morphology	7450	VWF	OMIM:193400
HP:0030680	Abnormal cardiovascular system morphology	5295	PIK3R1	OMIM:269880
HP:0030680	Abnormal cardiovascular system morphology	716	C1S	OMIM:617174
HP:0030680	Abnormal cardiovascular system morphology	25839	COG4	OMIM:618150
HP:0030680	Abnormal cardiovascular system morphology	715	C1R	OMIM:130080
HP:0030680	Abnormal cardiovascular system morphology	5159	PDGFRB	OMIM:601812
HP:0030680	Abnormal cardiovascular system morphology	91252	SLC39A13	OMIM:612350
HP:0030680	Abnormal cardiovascular system morphology	84919	PPP1R15B	OMIM:616817
HP:0030680	Abnormal cardiovascular system morphology	7424	VEGFC	OMIM:615907
HP:0030680	Abnormal cardiovascular system morphology	9791	PTDSS1	OMIM:151050
HP:0030680	Abnormal cardiovascular system morphology	8322	FZD4	ORPHA:90050
HP:0030680	Abnormal cardiovascular system morphology	2294	FOXF1	OMIM:265380
HP:0030680	Abnormal cardiovascular system morphology	2294	FOXF1	ORPHA:210122
HP:0030680	Abnormal cardiovascular system morphology	5447	POR	OMIM:201750
HP:0030680	Abnormal cardiovascular system morphology	4076	CAPRIN1	OMIM:620782
HP:0030680	Abnormal cardiovascular system morphology	374879	ZNF699	OMIM:619488
HP:0030680	Abnormal cardiovascular system morphology	91179	SCARF2	OMIM:600920
HP:0030680	Abnormal cardiovascular system morphology	117581	TWIST2	OMIM:200110
HP:0030680	Abnormal cardiovascular system morphology	54870	QRICH1	OMIM:617982
HP:0030680	Abnormal cardiovascular system morphology	79803	HPS6	OMIM:614075
HP:0030680	Abnormal cardiovascular system morphology	4149	MAX	OMIM:620712
HP:0030680	Abnormal cardiovascular system morphology	9897	WASHC5	OMIM:220210
HP:0030680	Abnormal cardiovascular system morphology	9897	WASHC5	ORPHA:7
HP:0030680	Abnormal cardiovascular system morphology	84992	PIGY	ORPHA:247262
HP:0030680	Abnormal cardiovascular system morphology	84720	PIGO	ORPHA:247262
HP:0030680	Abnormal cardiovascular system morphology	93210	PGAP3	ORPHA:247262
HP:0030680	Abnormal cardiovascular system morphology	284098	PIGW	ORPHA:247262
HP:0030680	Abnormal cardiovascular system morphology	27315	PGAP2	ORPHA:247262
HP:0030680	Abnormal cardiovascular system morphology	9487	PIGL	ORPHA:247262
HP:0030680	Abnormal cardiovascular system morphology	84231	TRAF7	OMIM:618164
HP:0030680	Abnormal cardiovascular system morphology	10463	SLC30A9	OMIM:617595
HP:0030680	Abnormal cardiovascular system morphology	10274	STAG1	OMIM:617635
HP:0030680	Abnormal cardiovascular system morphology	55901	THSD1	OMIM:620244
HP:0030680	Abnormal cardiovascular system morphology	28952	CCDC22	ORPHA:7
HP:0030680	Abnormal cardiovascular system morphology	57020	VPS35L	ORPHA:7
HP:0030680	Abnormal cardiovascular system morphology	56896	DPYSL5	ORPHA:7
HP:0030680	Abnormal cardiovascular system morphology	11011	TLK2	OMIM:618050
HP:0030680	Abnormal cardiovascular system morphology	1656	DDX6	OMIM:618653
HP:0030680	Abnormal cardiovascular system morphology	23384	SPECC1L	OMIM:145420
HP:0030680	Abnormal cardiovascular system morphology	2783	GNB2	OMIM:619503
HP:0030680	Abnormal cardiovascular system morphology	5062	PAK2	OMIM:618458
HP:0030680	Abnormal cardiovascular system morphology	4524	MTHFR	ORPHA:395
HP:0030680	Abnormal cardiovascular system morphology	4524	MTHFR	OMIM:236250
HP:0030680	Abnormal cardiovascular system morphology	55503	TRPV6	OMIM:618188
HP:0030680	Abnormal cardiovascular system morphology	7148	TNXB	ORPHA:230839
HP:0030680	Abnormal cardiovascular system morphology	5009	OTC	OMIM:311250
HP:0030680	Abnormal cardiovascular system morphology	7174	TPP2	ORPHA:444463
HP:0030680	Abnormal cardiovascular system morphology	2908	NR3C1	ORPHA:786
HP:0030680	Abnormal cardiovascular system morphology	2908	NR3C1	ORPHA:96253
HP:0030680	Abnormal cardiovascular system morphology	9342	SNAP29	ORPHA:66631
HP:0030680	Abnormal cardiovascular system morphology	11093	ADAMTS13	OMIM:274150
HP:0030680	Abnormal cardiovascular system morphology	84196	USP48	ORPHA:96253
HP:0030680	Abnormal cardiovascular system morphology	9101	USP8	ORPHA:96253
HP:0030680	Abnormal cardiovascular system morphology	546	ATRX	ORPHA:96253
HP:0030680	Abnormal cardiovascular system morphology	9149	DYRK1B	OMIM:615812
HP:0030680	Abnormal cardiovascular system morphology	5346	PLIN1	OMIM:613877
HP:0030680	Abnormal cardiovascular system morphology	55107	ANO1	OMIM:620687
HP:0030680	Abnormal cardiovascular system morphology	128989	TANGO2	ORPHA:480864
HP:0030680	Abnormal cardiovascular system morphology	3291	HSD11B2	ORPHA:320
HP:0030680	Abnormal cardiovascular system morphology	4204	MECP2	ORPHA:3077
HP:0030680	Abnormal cardiovascular system morphology	1471	CST3	OMIM:105150
HP:0030680	Abnormal cardiovascular system morphology	1471	CST3	ORPHA:100008
HP:0030680	Abnormal cardiovascular system morphology	4624	MYH6	ORPHA:99103
HP:0030680	Abnormal cardiovascular system morphology	10112	KIF20A	ORPHA:75249
HP:0030680	Abnormal cardiovascular system morphology	83605	CCM2	OMIM:603284
HP:0030680	Abnormal cardiovascular system morphology	189	AGXT	ORPHA:93598
HP:0030680	Abnormal cardiovascular system morphology	64131	XYLT1	OMIM:264800
HP:0030680	Abnormal cardiovascular system morphology	50485	SMARCAL1	ORPHA:1830
HP:0030680	Abnormal cardiovascular system morphology	50485	SMARCAL1	OMIM:242900
HP:0030680	Abnormal cardiovascular system morphology	28976	ACAD9	OMIM:611126
HP:0030680	Abnormal cardiovascular system morphology	2147	F2	OMIM:601367
HP:0030680	Abnormal cardiovascular system morphology	4846	NOS3	OMIM:601367
HP:0030680	Abnormal cardiovascular system morphology	5583	PRKCH	OMIM:601367
HP:0030680	Abnormal cardiovascular system morphology	2153	F5	OMIM:601367
HP:0030680	Abnormal cardiovascular system morphology	241	ALOX5AP	OMIM:601367
HP:0030680	Abnormal cardiovascular system morphology	727676	SNORD118	ORPHA:542310
HP:0030680	Abnormal cardiovascular system morphology	162417	NAGS	ORPHA:927
HP:0030680	Abnormal cardiovascular system morphology	445	ASS1	OMIM:215700
HP:0030680	Abnormal cardiovascular system morphology	5286	PIK3C2A	ORPHA:557003
HP:0030680	Abnormal cardiovascular system morphology	4860	PNP	ORPHA:760
HP:0030680	Abnormal cardiovascular system morphology	1373	CPS1	OMIM:237300
HP:0030680	Abnormal cardiovascular system morphology	7535	ZAP70	ORPHA:911
HP:0030680	Abnormal cardiovascular system morphology	25978	CHMP2B	ORPHA:100070
HP:0030680	Abnormal cardiovascular system morphology	5663	PSEN1	ORPHA:100070
HP:0030680	Abnormal cardiovascular system morphology	2896	GRN	ORPHA:100070
HP:0030680	Abnormal cardiovascular system morphology	54664	TMEM106B	ORPHA:100070
HP:0030680	Abnormal cardiovascular system morphology	4137	MAPT	ORPHA:100070
HP:0030680	Abnormal cardiovascular system morphology	54209	TREM2	ORPHA:100070
HP:0030680	Abnormal cardiovascular system morphology	2057	EPOR	OMIM:133100
HP:0030680	Abnormal cardiovascular system morphology	55654	TMEM127	OMIM:171300
HP:0030680	Abnormal cardiovascular system morphology	55654	TMEM127	ORPHA:29072
HP:0030680	Abnormal cardiovascular system morphology	1743	DLST	ORPHA:29072
HP:0030680	Abnormal cardiovascular system morphology	4191	MDH2	ORPHA:29072
HP:0030680	Abnormal cardiovascular system morphology	23095	KIF1B	ORPHA:29072
HP:0030680	Abnormal cardiovascular system morphology	2271	FH	ORPHA:29072
HP:0030680	Abnormal cardiovascular system morphology	8402	SLC25A11	ORPHA:29072
HP:0030680	Abnormal cardiovascular system morphology	54949	SDHAF2	ORPHA:29072
HP:0030680	Abnormal cardiovascular system morphology	6391	SDHC	ORPHA:29072
HP:0030680	Abnormal cardiovascular system morphology	4771	NF2	ORPHA:2495
HP:0030680	Abnormal cardiovascular system morphology	5155	PDGFB	ORPHA:2495
HP:0030680	Abnormal cardiovascular system morphology	8517	IKBKG	OMIM:301081
HP:0030680	Abnormal cardiovascular system morphology	2335	FN1	ORPHA:84090
HP:0030680	Abnormal cardiovascular system morphology	2243	FGA	ORPHA:98880
HP:0030680	Abnormal cardiovascular system morphology	2244	FGB	ORPHA:98880
HP:0030680	Abnormal cardiovascular system morphology	2266	FGG	ORPHA:98880
HP:0030680	Abnormal cardiovascular system morphology	3075	CFH	ORPHA:244242
HP:0030680	Abnormal cardiovascular system morphology	4179	CD46	ORPHA:244242
HP:0030680	Abnormal cardiovascular system morphology	101101692	HELLPAR	ORPHA:244242
HP:0030680	Abnormal cardiovascular system morphology	2165	F13B	ORPHA:331
HP:0030680	Abnormal cardiovascular system morphology	2034	EPAS1	ORPHA:276621
HP:0030680	Abnormal cardiovascular system morphology	9103	FCGR2C	ORPHA:3002
HP:0030680	Abnormal cardiovascular system morphology	2582	GALE	OMIM:620776
HP:0030680	Abnormal cardiovascular system morphology	10682	EBP	ORPHA:401973
HP:0030680	Abnormal cardiovascular system morphology	4088	SMAD3	ORPHA:284984
HP:0030680	Abnormal cardiovascular system morphology	58499	ZNF462	ORPHA:502430
HP:0030680	Abnormal cardiovascular system morphology	137814	NKX2-6	ORPHA:3384
HP:0030680	Abnormal cardiovascular system morphology	23129	PLXND1	ORPHA:3384
HP:0030680	Abnormal cardiovascular system morphology	388015	RTL1	ORPHA:254534
HP:0030680	Abnormal cardiovascular system morphology	388015	RTL1	ORPHA:254525
HP:0030680	Abnormal cardiovascular system morphology	8788	DLK1	ORPHA:254534
HP:0030680	Abnormal cardiovascular system morphology	8788	DLK1	ORPHA:254525
HP:0030680	Abnormal cardiovascular system morphology	55384	MEG3	ORPHA:254534
HP:0030680	Abnormal cardiovascular system morphology	55384	MEG3	ORPHA:254525
HP:0030680	Abnormal cardiovascular system morphology	1859	DYRK1A	ORPHA:268261
HP:0030680	Abnormal cardiovascular system morphology	123606	NIPA1	ORPHA:261183
HP:0030680	Abnormal cardiovascular system morphology	7283	TUBG1	ORPHA:261183
HP:0030680	Abnormal cardiovascular system morphology	81614	NIPA2	ORPHA:261183
HP:0030680	Abnormal cardiovascular system morphology	23592	LEMD3	ORPHA:166119
HP:0030680	Abnormal cardiovascular system morphology	7355	SLC35A2	ORPHA:356961
HP:0030680	Abnormal cardiovascular system morphology	9839	ZEB2	OMIM:235730
HP:0030680	Abnormal cardiovascular system morphology	9839	ZEB2	ORPHA:261552
HP:0030680	Abnormal cardiovascular system morphology	9839	ZEB2	ORPHA:261537
HP:0030680	Abnormal cardiovascular system morphology	4758	NEU1	ORPHA:93399
HP:0030680	Abnormal cardiovascular system morphology	4758	NEU1	ORPHA:93400
HP:0030680	Abnormal cardiovascular system morphology	23126	POGZ	ORPHA:468678
HP:0030680	Abnormal cardiovascular system morphology	10297	APC2	ORPHA:821
HP:0030680	Abnormal cardiovascular system morphology	55209	SETD5	ORPHA:404440
HP:0030680	Abnormal cardiovascular system morphology	3190	HNRNPK	ORPHA:453504
HP:0030680	Abnormal cardiovascular system morphology	3190	HNRNPK	ORPHA:352665
HP:0030680	Abnormal cardiovascular system morphology	27125	AFF4	ORPHA:444077
HP:0030680	Abnormal cardiovascular system morphology	3728	JUP	OMIM:601214
HP:0030680	Abnormal cardiovascular system morphology	8085	KMT2D	ORPHA:2322
HP:0030680	Abnormal cardiovascular system morphology	7403	KDM6A	ORPHA:2322
HP:0030680	Abnormal cardiovascular system morphology	7086	TKT	ORPHA:488618
HP:0030680	Abnormal cardiovascular system morphology	5053	PAH	ORPHA:2209
HP:0030680	Abnormal cardiovascular system morphology	3767	KCNJ11	ORPHA:99885
HP:0030680	Abnormal cardiovascular system morphology	3767	KCNJ11	ORPHA:99886
HP:0030680	Abnormal cardiovascular system morphology	6774	STAT3	ORPHA:99885
HP:0030680	Abnormal cardiovascular system morphology	2645	GCK	ORPHA:99885
HP:0030680	Abnormal cardiovascular system morphology	3651	PDX1	ORPHA:99885
HP:0030680	Abnormal cardiovascular system morphology	6833	ABCC8	ORPHA:99885
HP:0030680	Abnormal cardiovascular system morphology	6833	ABCC8	ORPHA:99886
HP:0030680	Abnormal cardiovascular system morphology	3630	INS	ORPHA:99885
HP:0030680	Abnormal cardiovascular system morphology	2067	ERCC1	OMIM:610758
HP:0030680	Abnormal cardiovascular system morphology	346171	ZFP57	ORPHA:99886
HP:0030680	Abnormal cardiovascular system morphology	57061	HYMAI	ORPHA:99886
HP:0030680	Abnormal cardiovascular system morphology	5325	PLAGL1	ORPHA:99886
HP:0030680	Abnormal cardiovascular system morphology	134218	DNAJC21	ORPHA:811
HP:0030680	Abnormal cardiovascular system morphology	79631	EFL1	ORPHA:811
HP:0030680	Abnormal cardiovascular system morphology	51119	SBDS	ORPHA:811
HP:0030680	Abnormal cardiovascular system morphology	55650	PIGV	OMIM:239300
HP:0030680	Abnormal cardiovascular system morphology	65082	VPS33A	ORPHA:505248
HP:0030680	Abnormal cardiovascular system morphology	51132	RLIM	OMIM:300978
HP:0030680	Abnormal cardiovascular system morphology	284058	KANSL1	ORPHA:363958
HP:0030680	Abnormal cardiovascular system morphology	284058	KANSL1	ORPHA:363965
HP:0030680	Abnormal cardiovascular system morphology	113189	CHST14	ORPHA:2953
HP:0030680	Abnormal cardiovascular system morphology	29940	DSE	ORPHA:2953
HP:0030680	Abnormal cardiovascular system morphology	6597	SMARCA4	ORPHA:1465
HP:0030680	Abnormal cardiovascular system morphology	6659	SOX4	ORPHA:1465
HP:0030680	Abnormal cardiovascular system morphology	8289	ARID1A	ORPHA:1465
HP:0030680	Abnormal cardiovascular system morphology	8289	ARID1A	OMIM:614607
HP:0030680	Abnormal cardiovascular system morphology	5977	DPF2	ORPHA:1465
HP:0030680	Abnormal cardiovascular system morphology	6601	SMARCC2	ORPHA:1465
HP:0030680	Abnormal cardiovascular system morphology	6602	SMARCD1	ORPHA:1465
HP:0030680	Abnormal cardiovascular system morphology	196528	ARID2	ORPHA:1465
HP:0030680	Abnormal cardiovascular system morphology	6605	SMARCE1	ORPHA:1465
HP:0030680	Abnormal cardiovascular system morphology	6664	SOX11	ORPHA:1465
HP:0030680	Abnormal cardiovascular system morphology	6331	SCN5A	ORPHA:1344
HP:0030680	Abnormal cardiovascular system morphology	4878	NPPA	ORPHA:1344
HP:0030680	Abnormal cardiovascular system morphology	23389	MED13L	ORPHA:369891
HP:0030680	Abnormal cardiovascular system morphology	5339	PLEC	ORPHA:79401
HP:0030680	Abnormal cardiovascular system morphology	55863	TMEM126B	OMIM:618250
HP:0030680	Abnormal cardiovascular system morphology	25942	SIN3A	ORPHA:94065
HP:0030680	Abnormal cardiovascular system morphology	57190	SELENON	ORPHA:2020
HP:0030680	Abnormal cardiovascular system morphology	58	ACTA1	ORPHA:2020
HP:0030680	Abnormal cardiovascular system morphology	4633	MYL2	ORPHA:2020
HP:0030680	Abnormal cardiovascular system morphology	3679	ITGA7	ORPHA:2020
HP:0030680	Abnormal cardiovascular system morphology	7169	TPM2	ORPHA:2020
HP:0030680	Abnormal cardiovascular system morphology	9200	HACD1	ORPHA:2020
HP:0030680	Abnormal cardiovascular system morphology	7170	TPM3	ORPHA:2020
HP:0030680	Abnormal cardiovascular system morphology	51776	MAP3K20	ORPHA:2020
HP:0030680	Abnormal cardiovascular system morphology	4763	NF1	ORPHA:363700
HP:0030680	Abnormal cardiovascular system morphology	4763	NF1	ORPHA:97685
HP:0030680	Abnormal cardiovascular system morphology	2178	FANCE	OMIM:600901
HP:0030680	Abnormal cardiovascular system morphology	26053	AUTS2	ORPHA:352490
HP:0030680	Abnormal cardiovascular system morphology	79796	ALG9	OMIM:263210
HP:0030680	Abnormal cardiovascular system morphology	79796	ALG9	ORPHA:79328
HP:0030680	Abnormal cardiovascular system morphology	1822	ATN1	OMIM:618494
HP:0030680	Abnormal cardiovascular system morphology	6491	STIL	ORPHA:93926
HP:0030680	Abnormal cardiovascular system morphology	6491	STIL	ORPHA:93924
HP:0030680	Abnormal cardiovascular system morphology	6491	STIL	ORPHA:93925
HP:0030680	Abnormal cardiovascular system morphology	6491	STIL	ORPHA:220386
HP:0030680	Abnormal cardiovascular system morphology	23007	PLCH1	ORPHA:93925
HP:0030680	Abnormal cardiovascular system morphology	10735	STAG2	ORPHA:93925
HP:0030680	Abnormal cardiovascular system morphology	10735	STAG2	ORPHA:220386
HP:0030680	Abnormal cardiovascular system morphology	5728	PTEN	ORPHA:79076
HP:0030680	Abnormal cardiovascular system morphology	657	BMPR1A	ORPHA:79076
HP:0030680	Abnormal cardiovascular system morphology	6638	SNRPN	ORPHA:177907
HP:0030680	Abnormal cardiovascular system morphology	26040	SETBP1	ORPHA:798
HP:0030680	Abnormal cardiovascular system morphology	9056	SLC7A7	ORPHA:470
HP:0030680	Abnormal cardiovascular system morphology	92482	BBIP1	ORPHA:110
HP:0030680	Abnormal cardiovascular system morphology	11020	IFT27	ORPHA:110
HP:0030680	Abnormal cardiovascular system morphology	582	BBS1	ORPHA:110
HP:0030680	Abnormal cardiovascular system morphology	49855	SCAPER	ORPHA:110
HP:0030680	Abnormal cardiovascular system morphology	51057	WDPCP	ORPHA:110
HP:0030680	Abnormal cardiovascular system morphology	132320	SCLT1	ORPHA:110
HP:0030680	Abnormal cardiovascular system morphology	27241	BBS9	ORPHA:110
HP:0030680	Abnormal cardiovascular system morphology	84984	CEP19	ORPHA:110
HP:0030680	Abnormal cardiovascular system morphology	22954	TRIM32	ORPHA:110
HP:0030680	Abnormal cardiovascular system morphology	79738	BBS10	ORPHA:110
HP:0030680	Abnormal cardiovascular system morphology	123016	TTC8	ORPHA:110
HP:0030680	Abnormal cardiovascular system morphology	26160	IFT172	ORPHA:110
HP:0030680	Abnormal cardiovascular system morphology	583	BBS2	ORPHA:110
HP:0030680	Abnormal cardiovascular system morphology	585	BBS4	ORPHA:110
HP:0030680	Abnormal cardiovascular system morphology	54585	LZTFL1	ORPHA:110
HP:0030680	Abnormal cardiovascular system morphology	55212	BBS7	ORPHA:110
HP:0030680	Abnormal cardiovascular system morphology	166379	BBS12	ORPHA:110
HP:0030680	Abnormal cardiovascular system morphology	10806	SDCCAG8	ORPHA:110
HP:0030680	Abnormal cardiovascular system morphology	157657	CFAP418	ORPHA:110
HP:0030680	Abnormal cardiovascular system morphology	84100	ARL6	ORPHA:110
HP:0030680	Abnormal cardiovascular system morphology	129880	BBS5	ORPHA:110
HP:0030680	Abnormal cardiovascular system morphology	4613	MYCN	ORPHA:391641
HP:0030680	Abnormal cardiovascular system morphology	51604	PIGT	ORPHA:369837
HP:0030680	Abnormal cardiovascular system morphology	2737	GLI3	OMIM:175700
HP:0030680	Abnormal cardiovascular system morphology	29957	SLC25A24	OMIM:612289
HP:0030680	Abnormal cardiovascular system morphology	998	CDC42	ORPHA:487796
HP:0030680	Abnormal cardiovascular system morphology	10128	LRPPRC	ORPHA:70472
HP:0030680	Abnormal cardiovascular system morphology	56052	ALG1	ORPHA:79327
HP:0030680	Abnormal cardiovascular system morphology	2887	GRB10	ORPHA:96182
HP:0030680	Abnormal cardiovascular system morphology	4247	MGAT2	ORPHA:79329
HP:0030680	Abnormal cardiovascular system morphology	79228	THOC6	ORPHA:363444
HP:0030680	Abnormal cardiovascular system morphology	1457	CSNK2A1	OMIM:617062
HP:0030680	Abnormal cardiovascular system morphology	79813	EHMT1	ORPHA:261652
HP:0030680	Abnormal cardiovascular system morphology	58508	KMT2C	ORPHA:261652
HP:0030680	Abnormal cardiovascular system morphology	27086	FOXP1	ORPHA:391372
HP:0030680	Abnormal cardiovascular system morphology	2050	EPHB4	ORPHA:137667
HP:0030680	Abnormal cardiovascular system morphology	5921	RASA1	ORPHA:137667
HP:0030680	Abnormal cardiovascular system morphology	3708	ITPR1	OMIM:117360
HP:0030680	Abnormal cardiovascular system morphology	79633	FAT4	ORPHA:314679
HP:0030680	Abnormal cardiovascular system morphology	8642	DCHS1	ORPHA:314679
HP:0030680	Abnormal cardiovascular system morphology	9968	MED12	OMIM:305450
HP:0030680	Abnormal cardiovascular system morphology	91949	COG7	ORPHA:79333
HP:0030680	Abnormal cardiovascular system morphology	4920	ROR2	OMIM:268310
HP:0030680	Abnormal cardiovascular system morphology	51322	WAC	ORPHA:284169
HP:0030680	Abnormal cardiovascular system morphology	2177	FANCD2	OMIM:227646
HP:0030680	Abnormal cardiovascular system morphology	5889	RAD51C	OMIM:613390
HP:0030680	Abnormal cardiovascular system morphology	5528	PPP2R5D	ORPHA:457279
HP:0030680	Abnormal cardiovascular system morphology	6651	SON	ORPHA:500150
HP:0030680	Abnormal cardiovascular system morphology	2625	GATA3	ORPHA:2237
HP:0030680	Abnormal cardiovascular system morphology	5879	RAC1	ORPHA:500159
HP:0030680	Abnormal cardiovascular system morphology	25974	MMACHC	ORPHA:79282
HP:0030680	Abnormal cardiovascular system morphology	55681	SCYL2	ORPHA:1143
HP:0030680	Abnormal cardiovascular system morphology	84570	COL25A1	ORPHA:1143
HP:0030680	Abnormal cardiovascular system morphology	55788	LMBRD1	ORPHA:79284
HP:0030680	Abnormal cardiovascular system morphology	6885	MAP3K7	ORPHA:1826
HP:0030680	Abnormal cardiovascular system morphology	10210	TOPORS	ORPHA:2754
HP:0030680	Abnormal cardiovascular system morphology	317662	FAM149B1	ORPHA:2754
HP:0030680	Abnormal cardiovascular system morphology	9203	ZMYM3	OMIM:301111
HP:0030680	Abnormal cardiovascular system morphology	6138	RPL15	ORPHA:124
HP:0030680	Abnormal cardiovascular system morphology	6224	RPS20	ORPHA:124
HP:0030680	Abnormal cardiovascular system morphology	6165	RPL35A	ORPHA:124
HP:0030680	Abnormal cardiovascular system morphology	6132	RPL8	ORPHA:124
HP:0030680	Abnormal cardiovascular system morphology	6223	RPS19	ORPHA:124
HP:0030680	Abnormal cardiovascular system morphology	6232	RPS27	ORPHA:124
HP:0030680	Abnormal cardiovascular system morphology	55027	HEATR3	ORPHA:124
HP:0030680	Abnormal cardiovascular system morphology	6160	RPL31	ORPHA:124
HP:0030680	Abnormal cardiovascular system morphology	6201	RPS7	ORPHA:124
HP:0030680	Abnormal cardiovascular system morphology	6155	RPL27	ORPHA:124
HP:0030680	Abnormal cardiovascular system morphology	6234	RPS28	ORPHA:124
HP:0030680	Abnormal cardiovascular system morphology	6135	RPL11	ORPHA:124
HP:0030680	Abnormal cardiovascular system morphology	6229	RPS24	ORPHA:124
HP:0030680	Abnormal cardiovascular system morphology	6125	RPL5	ORPHA:124
HP:0030680	Abnormal cardiovascular system morphology	6204	RPS10	ORPHA:124
HP:0030680	Abnormal cardiovascular system morphology	2623	GATA1	ORPHA:124
HP:0030680	Abnormal cardiovascular system morphology	6133	RPL9	ORPHA:124
HP:0030680	Abnormal cardiovascular system morphology	6231	RPS26	ORPHA:124
HP:0030680	Abnormal cardiovascular system morphology	11224	RPL35	ORPHA:124
HP:0030680	Abnormal cardiovascular system morphology	6218	RPS17	ORPHA:124
HP:0030680	Abnormal cardiovascular system morphology	6154	RPL26	ORPHA:124
HP:0030680	Abnormal cardiovascular system morphology	6210	RPS15A	ORPHA:124
HP:0030680	Abnormal cardiovascular system morphology	90121	TSR2	ORPHA:124
HP:0030680	Abnormal cardiovascular system morphology	6141	RPL18	ORPHA:124
HP:0030680	Abnormal cardiovascular system morphology	6235	RPS29	ORPHA:124
HP:0030680	Abnormal cardiovascular system morphology	51816	ADA2	ORPHA:124
HP:0030680	Abnormal cardiovascular system morphology	25970	SH2B1	ORPHA:261197
HP:0030680	Abnormal cardiovascular system morphology	5087	PBX1	OMIM:617641
HP:0030680	Abnormal cardiovascular system morphology	26173	INTS1	OMIM:618571
HP:0030680	Abnormal cardiovascular system morphology	4281	MID1	ORPHA:2745
HP:0030680	Abnormal cardiovascular system morphology	9652	SKIC3	ORPHA:84064
HP:0030680	Abnormal cardiovascular system morphology	6499	SKIC2	ORPHA:84064
HP:0030680	Abnormal cardiovascular system morphology	5813	PURA	ORPHA:314655
HP:0030680	Abnormal cardiovascular system morphology	28981	IFT81	OMIM:617895
HP:0030680	Abnormal cardiovascular system morphology	51126	NAA20	OMIM:619717
HP:0030680	Abnormal cardiovascular system morphology	2972	BRF1	OMIM:616202
HP:0030680	Abnormal cardiovascular system morphology	2972	BRF1	ORPHA:444072
HP:0030680	Abnormal cardiovascular system morphology	91801	ALKBH8	OMIM:618504
HP:0030680	Abnormal cardiovascular system morphology	79639	TMEM53	OMIM:619727
HP:0030680	Abnormal cardiovascular system morphology	7021	TFAP2B	ORPHA:46627
HP:0030680	Abnormal cardiovascular system morphology	815	CAMK2A	OMIM:617798
HP:0030680	Abnormal cardiovascular system morphology	6926	TBX3	OMIM:181450
HP:0030680	Abnormal cardiovascular system morphology	6926	TBX3	ORPHA:3138
HP:0030680	Abnormal cardiovascular system morphology	93627	TBCK	ORPHA:488632
HP:0030680	Abnormal cardiovascular system morphology	26834	RNU4-2	OMIM:620851
HP:0030680	Abnormal cardiovascular system morphology	3476	IGBP1	ORPHA:52055
HP:0030680	Abnormal cardiovascular system morphology	3476	IGBP1	OMIM:300472
HP:0030680	Abnormal cardiovascular system morphology	8493	PPM1D	OMIM:617450
HP:0030680	Abnormal cardiovascular system morphology	56006	SMG9	OMIM:619995
HP:0030680	Abnormal cardiovascular system morphology	56006	SMG9	OMIM:616920
HP:0030680	Abnormal cardiovascular system morphology	150468	CKAP2L	OMIM:272440
HP:0030680	Abnormal cardiovascular system morphology	150468	CKAP2L	ORPHA:3255
HP:0030680	Abnormal cardiovascular system morphology	8314	BAP1	OMIM:619762
HP:0030680	Abnormal cardiovascular system morphology	2542	SLC37A4	OMIM:619525
HP:0030680	Abnormal cardiovascular system morphology	57466	SCAF4	OMIM:620511
HP:0030680	Abnormal cardiovascular system morphology	54487	DGCR8	OMIM:192430
HP:0030680	Abnormal cardiovascular system morphology	8214	DGCR6	OMIM:192430
HP:0030680	Abnormal cardiovascular system morphology	8220	ESS2	OMIM:192430
HP:0030680	Abnormal cardiovascular system morphology	9993	DGCR2	OMIM:192430
HP:0030680	Abnormal cardiovascular system morphology	8565	YARS1	OMIM:619418
HP:0030680	Abnormal cardiovascular system morphology	23499	MACF1	OMIM:618325
HP:0030680	Abnormal cardiovascular system morphology	3930	LBR	OMIM:169400
HP:0030680	Abnormal cardiovascular system morphology	8295	TRRAP	OMIM:618454
HP:0030680	Abnormal cardiovascular system morphology	55770	EXOC2	OMIM:619306
HP:0030680	Abnormal cardiovascular system morphology	27145	FILIP1	OMIM:620775
HP:0030680	Abnormal cardiovascular system morphology	6792	CDKL5	ORPHA:1934
HP:0030680	Abnormal cardiovascular system morphology	3736	KCNA1	ORPHA:1934
HP:0030680	Abnormal cardiovascular system morphology	9091	PIGQ	ORPHA:1934
HP:0030680	Abnormal cardiovascular system morphology	140679	SLC32A1	ORPHA:1934
HP:0030680	Abnormal cardiovascular system morphology	2775	GNAO1	ORPHA:1934
HP:0030680	Abnormal cardiovascular system morphology	81603	TRIM8	ORPHA:1934
HP:0030680	Abnormal cardiovascular system morphology	2902	GRIN1	ORPHA:1934
HP:0030680	Abnormal cardiovascular system morphology	79751	SLC25A22	ORPHA:1934
HP:0030680	Abnormal cardiovascular system morphology	150094	SIK1	ORPHA:1934
HP:0030680	Abnormal cardiovascular system morphology	8573	CASK	ORPHA:1934
HP:0030680	Abnormal cardiovascular system morphology	23312	DMXL2	ORPHA:1934
HP:0030680	Abnormal cardiovascular system morphology	2917	GRM7	ORPHA:1934
HP:0030680	Abnormal cardiovascular system morphology	170302	ARX	ORPHA:1934
HP:0030680	Abnormal cardiovascular system morphology	170302	ARX	ORPHA:452
HP:0030680	Abnormal cardiovascular system morphology	11284	PNKP	ORPHA:1934
HP:0030680	Abnormal cardiovascular system morphology	6326	SCN2A	ORPHA:1934
HP:0030680	Abnormal cardiovascular system morphology	51227	PIGP	ORPHA:1934
HP:0030680	Abnormal cardiovascular system morphology	6324	SCN1B	ORPHA:1934
HP:0030680	Abnormal cardiovascular system morphology	4761	NEUROD2	ORPHA:1934
HP:0030680	Abnormal cardiovascular system morphology	23314	SATB2	ORPHA:251028
HP:0030680	Abnormal cardiovascular system morphology	57551	TAOK1	OMIM:619575
HP:0030680	Abnormal cardiovascular system morphology	372	ARCN1	OMIM:617164
HP:0030680	Abnormal cardiovascular system morphology	6304	SATB1	OMIM:619229
HP:0030680	Abnormal cardiovascular system morphology	6811	STX5	OMIM:620454
HP:0030680	Abnormal cardiovascular system morphology	4990	SIX6	OMIM:206900
HP:0030680	Abnormal cardiovascular system morphology	8883	NAE1	OMIM:620210
HP:0030680	Abnormal cardiovascular system morphology	64864	RFX7	OMIM:620330
HP:0030680	Abnormal cardiovascular system morphology	57003	CCDC47	OMIM:618268
HP:0030680	Abnormal cardiovascular system morphology	6711	SPTBN1	OMIM:619475
HP:0030680	Abnormal cardiovascular system morphology	10283	CWC27	OMIM:250410
HP:0030680	Abnormal cardiovascular system morphology	10283	CWC27	ORPHA:166035
HP:0030680	Abnormal cardiovascular system morphology	118924	FRA10AC1	OMIM:620113
HP:0030680	Abnormal cardiovascular system morphology	407975	MIR17HG	ORPHA:391646
HP:0030680	Abnormal cardiovascular system morphology	4256	MGP	OMIM:245150
HP:0030680	Abnormal cardiovascular system morphology	4256	MGP	ORPHA:85202
HP:0030680	Abnormal cardiovascular system morphology	5297	PI4KA	ORPHA:436252
HP:0030680	Abnormal cardiovascular system morphology	57217	TTC7A	ORPHA:436252
HP:0030680	Abnormal cardiovascular system morphology	57217	TTC7A	OMIM:243150
HP:0030680	Abnormal cardiovascular system morphology	26128	KIFBP	OMIM:609460
HP:0030680	Abnormal cardiovascular system morphology	83700	JAM3	OMIM:613730
HP:0030680	Abnormal cardiovascular system morphology	123263	MTFMT	OMIM:614947
HP:0030680	Abnormal cardiovascular system morphology	8854	ALDH1A2	OMIM:620025
HP:0030680	Abnormal cardiovascular system morphology	10992	SF3B2	OMIM:164210
HP:0030680	Abnormal cardiovascular system morphology	80232	WDR26	ORPHA:513456
HP:0030680	Abnormal cardiovascular system morphology	80232	WDR26	OMIM:617616
HP:0030680	Abnormal cardiovascular system morphology	55249	YY1AP1	ORPHA:79094
HP:0030680	Abnormal cardiovascular system morphology	7175	TPR	OMIM:620393
HP:0030680	Abnormal cardiovascular system morphology	5119	CHMP1A	OMIM:614961
HP:0030680	Abnormal cardiovascular system morphology	8772	FADD	OMIM:613759
HP:0030680	Abnormal cardiovascular system morphology	8772	FADD	ORPHA:306550
HP:0030680	Abnormal cardiovascular system morphology	63894	VIPAS39	OMIM:613404
HP:0030680	Abnormal cardiovascular system morphology	4036	LRP2	ORPHA:2143
HP:0030680	Abnormal cardiovascular system morphology	4036	LRP2	OMIM:222448
HP:0030680	Abnormal cardiovascular system morphology	26227	PHGDH	OMIM:256520
HP:0030680	Abnormal cardiovascular system morphology	23118	TAB2	OMIM:614980
HP:0030680	Abnormal cardiovascular system morphology	6558	SLC12A2	OMIM:619083
HP:0030680	Abnormal cardiovascular system morphology	10236	HNRNPR	OMIM:620073
HP:0030680	Abnormal cardiovascular system morphology	51244	CCDC174	OMIM:616816
HP:0030680	Abnormal cardiovascular system morphology	667	DST	OMIM:614653
HP:0030680	Abnormal cardiovascular system morphology	85358	SHANK3	OMIM:606232
HP:0030680	Abnormal cardiovascular system morphology	83479	DDX59	OMIM:174300
HP:0030680	Abnormal cardiovascular system morphology	5160	PDHA1	ORPHA:79243
HP:0030680	Abnormal cardiovascular system morphology	3209	HOXA13	ORPHA:2438
HP:0030680	Abnormal cardiovascular system morphology	7074	TIAM1	OMIM:619908
HP:0030680	Abnormal cardiovascular system morphology	59336	PRDM13	OMIM:619909
HP:0030680	Abnormal cardiovascular system morphology	157680	VPS13B	ORPHA:193
HP:0030680	Abnormal cardiovascular system morphology	51780	KDM3B	OMIM:618846
HP:0030680	Abnormal cardiovascular system morphology	1663	DDX11	OMIM:613398
HP:0030680	Abnormal cardiovascular system morphology	8792	TNFRSF11A	ORPHA:1782
HP:0030680	Abnormal cardiovascular system morphology	124583	CANT1	ORPHA:1425
HP:0030680	Abnormal cardiovascular system morphology	8036	SHOC2	OMIM:607721
HP:0030680	Abnormal cardiovascular system morphology	10617	STAMBP	OMIM:614261
HP:0030680	Abnormal cardiovascular system morphology	26235	FBXL4	OMIM:615471
HP:0030680	Abnormal cardiovascular system morphology	23334	SZT2	OMIM:615476
HP:0030680	Abnormal cardiovascular system morphology	9231	DLG5	OMIM:620703
HP:0030680	Abnormal cardiovascular system morphology	81857	MED25	OMIM:616449
HP:0030680	Abnormal cardiovascular system morphology	81857	MED25	ORPHA:464738
HP:0030680	Abnormal cardiovascular system morphology	5927	KDM5A	OMIM:620820
HP:0030680	Abnormal cardiovascular system morphology	1788	DNMT3A	ORPHA:404443
HP:0030680	Abnormal cardiovascular system morphology	1788	DNMT3A	OMIM:615879
HP:0030680	Abnormal cardiovascular system morphology	1131	CHRM3	ORPHA:2970
HP:0030680	Abnormal cardiovascular system morphology	3020	H3-3A	OMIM:619720
HP:0030680	Abnormal cardiovascular system morphology	55790	CSGALNACT1	OMIM:618870
HP:0030680	Abnormal cardiovascular system morphology	10084	PQBP1	ORPHA:93946
HP:0030680	Abnormal cardiovascular system morphology	10084	PQBP1	ORPHA:93947
HP:0030680	Abnormal cardiovascular system morphology	10084	PQBP1	OMIM:309500
HP:0030680	Abnormal cardiovascular system morphology	28960	DCPS	OMIM:616459
HP:0030680	Abnormal cardiovascular system morphology	57231	SNX14	ORPHA:397709
HP:0030680	Abnormal cardiovascular system morphology	7994	KAT6A	ORPHA:457193
HP:0030680	Abnormal cardiovascular system morphology	7994	KAT6A	OMIM:616268
HP:0030680	Abnormal cardiovascular system morphology	55109	AGGF1	ORPHA:90308
HP:0030680	Abnormal cardiovascular system morphology	4313	MMP2	ORPHA:371428
HP:0030680	Abnormal cardiovascular system morphology	4323	MMP14	ORPHA:371428
HP:0030680	Abnormal cardiovascular system morphology	7092	TLL1	OMIM:613087
HP:0030680	Abnormal cardiovascular system morphology	8550	MAPKAPK5	OMIM:619869
HP:0030680	Abnormal cardiovascular system morphology	8241	RBM10	OMIM:311900
HP:0030680	Abnormal cardiovascular system morphology	8241	RBM10	ORPHA:2886
HP:0030680	Abnormal cardiovascular system morphology	5337	PLD1	OMIM:212093
HP:0030680	Abnormal cardiovascular system morphology	1182	CLCN3	OMIM:619512
HP:0030680	Abnormal cardiovascular system morphology	8558	CDK10	OMIM:617694
HP:0030680	Abnormal cardiovascular system morphology	51633	OTUD6B	OMIM:617452
HP:0030680	Abnormal cardiovascular system morphology	51633	OTUD6B	ORPHA:505237
HP:0030680	Abnormal cardiovascular system morphology	286	ANK1	ORPHA:251066
HP:0030680	Abnormal cardiovascular system morphology	415	ARSL	ORPHA:79345
HP:0030680	Abnormal cardiovascular system morphology	93986	FOXP2	ORPHA:251061
HP:0030680	Abnormal cardiovascular system morphology	7385	UQCRC2	OMIM:615160
HP:0030680	Abnormal cardiovascular system morphology	7750	ZMYM2	OMIM:619522
HP:0030680	Abnormal cardiovascular system morphology	10991	SLC38A3	OMIM:619881
HP:0030680	Abnormal cardiovascular system morphology	9772	TMEM94	OMIM:618316
HP:0030680	Abnormal cardiovascular system morphology	51341	ZBTB7A	OMIM:619769
HP:0030680	Abnormal cardiovascular system morphology	51163	DBR1	OMIM:620510
HP:0030680	Abnormal cardiovascular system morphology	54916	TMEM260	OMIM:617478
HP:0030680	Abnormal cardiovascular system morphology	1107	CHD3	OMIM:618205
HP:0030680	Abnormal cardiovascular system morphology	8621	CDK13	OMIM:617360
HP:0030680	Abnormal cardiovascular system morphology	1523	CUX1	OMIM:618330
HP:0030680	Abnormal cardiovascular system morphology	4212	MEIS2	ORPHA:261190
HP:0030680	Abnormal cardiovascular system morphology	4212	MEIS2	OMIM:600987
HP:0030680	Abnormal cardiovascular system morphology	1801	DPH1	ORPHA:459061
HP:0030680	Abnormal cardiovascular system morphology	1802	DPH2	ORPHA:459061
HP:0030680	Abnormal cardiovascular system morphology	64132	XYLT2	OMIM:605822
HP:0030680	Abnormal cardiovascular system morphology	6909	TBX2	OMIM:618223
HP:0030680	Abnormal cardiovascular system morphology	6477	SIAH1	OMIM:619314
HP:0030680	Abnormal cardiovascular system morphology	10765	KDM5B	OMIM:618109
HP:0030680	Abnormal cardiovascular system morphology	253738	EBF3	ORPHA:96148
HP:0030680	Abnormal cardiovascular system morphology	90459	ERI1	OMIM:620663
HP:0030680	Abnormal cardiovascular system morphology	90459	ERI1	OMIM:620662
HP:0030680	Abnormal cardiovascular system morphology	6888	TALDO1	ORPHA:101028
HP:0030680	Abnormal cardiovascular system morphology	6888	TALDO1	OMIM:606003
HP:0030680	Abnormal cardiovascular system morphology	5515	PPP2CA	OMIM:618354
HP:0030680	Abnormal cardiovascular system morphology	5649	RELN	ORPHA:89844
HP:0030680	Abnormal cardiovascular system morphology	10300	KATNB1	ORPHA:89844
HP:0030680	Abnormal cardiovascular system morphology	1363	CPE	OMIM:619326
HP:0030680	Abnormal cardiovascular system morphology	8312	AXIN1	OMIM:620558
HP:0030680	Abnormal cardiovascular system morphology	51114	ZDHHC9	ORPHA:776
HP:0030680	Abnormal cardiovascular system morphology	65109	UPF3B	ORPHA:776
HP:0030680	Abnormal cardiovascular system morphology	2530	FUT8	OMIM:618005
HP:0030680	Abnormal cardiovascular system morphology	166378	AFG2A	ORPHA:457351
HP:0030680	Abnormal cardiovascular system morphology	1108	CHD4	OMIM:617159
HP:0030680	Abnormal cardiovascular system morphology	54551	MAGEL2	ORPHA:398069
HP:0030680	Abnormal cardiovascular system morphology	201163	FLCN	OMIM:610883
HP:0030680	Abnormal cardiovascular system morphology	400569	MED11	OMIM:620327
HP:0030680	Abnormal cardiovascular system morphology	7703	PCGF2	OMIM:618371
HP:0030680	Abnormal cardiovascular system morphology	27031	NPHP3	OMIM:267010
HP:0030680	Abnormal cardiovascular system morphology	27031	NPHP3	OMIM:208540
HP:0030680	Abnormal cardiovascular system morphology	26276	VPS33B	OMIM:208085
HP:0030680	Abnormal cardiovascular system morphology	5277	PIGA	OMIM:300868
HP:0030680	Abnormal cardiovascular system morphology	3188	HNRNPH2	OMIM:300986
HP:0030680	Abnormal cardiovascular system morphology	54538	ROBO4	OMIM:618496
HP:0030680	Abnormal cardiovascular system morphology	9343	EFTUD2	OMIM:610536
HP:0030680	Abnormal cardiovascular system morphology	9343	EFTUD2	ORPHA:79113
HP:0030680	Abnormal cardiovascular system morphology	55186	SLC25A36	OMIM:620211
HP:0030680	Abnormal cardiovascular system morphology	5281	PIGF	OMIM:619356
HP:0030680	Abnormal cardiovascular system morphology	1277	COL1A1	OMIM:619115
HP:0030680	Abnormal cardiovascular system morphology	10526	IPO8	OMIM:619472
HP:0030680	Abnormal cardiovascular system morphology	8452	CUL3	OMIM:619239
HP:0030680	Abnormal cardiovascular system morphology	51360	MBTPS2	OMIM:308205
HP:0030680	Abnormal cardiovascular system morphology	7204	TRIO	OMIM:617061
HP:0030680	Abnormal cardiovascular system morphology	285590	SH3PXD2B	OMIM:249420
HP:0030680	Abnormal cardiovascular system morphology	8318	CDC45	OMIM:617063
HP:0030680	Abnormal cardiovascular system morphology	126792	B3GALT6	OMIM:271640
HP:0030680	Abnormal cardiovascular system morphology	55252	ASXL2	OMIM:617190
HP:0030680	Abnormal cardiovascular system morphology	84905	ZNF341	OMIM:618282
HP:0030680	Abnormal cardiovascular system morphology	23387	SIK3	OMIM:618162
HP:0030680	Abnormal cardiovascular system morphology	7716	VEZF1	OMIM:620247
HP:0030680	Abnormal cardiovascular system morphology	5557	PRIM1	OMIM:620005
HP:0030680	Abnormal cardiovascular system morphology	129285	PPP1R21	OMIM:619383
HP:0030680	Abnormal cardiovascular system morphology	55181	SMG8	OMIM:619268
HP:0030680	Abnormal cardiovascular system morphology	27161	AGO2	OMIM:619149
HP:0030680	Abnormal cardiovascular system morphology	3480	IGF1R	OMIM:270450
HP:0030680	Abnormal cardiovascular system morphology	8496	PPFIBP1	OMIM:620024
HP:0030680	Abnormal cardiovascular system morphology	613	BCR	ORPHA:261330
HP:0030680	Abnormal cardiovascular system morphology	1399	CRKL	ORPHA:261330
HP:0030680	Abnormal cardiovascular system morphology	5594	MAPK1	ORPHA:261330
HP:0030680	Abnormal cardiovascular system morphology	5594	MAPK1	OMIM:619087
HP:0030680	Abnormal cardiovascular system morphology	89910	UBE3B	OMIM:244450
HP:0030680	Abnormal cardiovascular system morphology	56992	KIF15	ORPHA:261323
HP:0030680	Abnormal cardiovascular system morphology	80204	FBXO11	OMIM:618089
HP:0030680	Abnormal cardiovascular system morphology	1889	ECE1	OMIM:613870
HP:0030680	Abnormal cardiovascular system morphology	222663	SCUBE3	OMIM:619184
HP:0030680	Abnormal cardiovascular system morphology	55148	UBR7	OMIM:619189
HP:0030680	Abnormal cardiovascular system morphology	26005	C2CD3	OMIM:615948
HP:0030680	Abnormal cardiovascular system morphology	3265	HRAS	OMIM:218040
HP:0030680	Abnormal cardiovascular system morphology	5826	ABCD4	OMIM:614857
HP:0030680	Abnormal cardiovascular system morphology	10841	FTCD	ORPHA:51208
HP:0030680	Abnormal cardiovascular system morphology	54499	TMCO1	OMIM:213980
HP:0030680	Abnormal cardiovascular system morphology	55719	SLF2	OMIM:620184
HP:0030680	Abnormal cardiovascular system morphology	57057	TBX20	OMIM:611363
HP:0030680	Abnormal cardiovascular system morphology	182	JAG1	OMIM:118450
HP:0030680	Abnormal cardiovascular system morphology	51085	MLXIPL	OMIM:194050
HP:0030680	Abnormal cardiovascular system morphology	3911	LAMA5	OMIM:620076
HP:0030680	Abnormal cardiovascular system morphology	10430	TMEM147	OMIM:620075
HP:0030680	Abnormal cardiovascular system morphology	51574	LARP7	ORPHA:319671
HP:0030680	Abnormal cardiovascular system morphology	50945	TBX22	ORPHA:921
HP:0030680	Abnormal cardiovascular system morphology	84978	FRMD5	OMIM:620094
HP:0030680	Abnormal cardiovascular system morphology	2317	FLNB	OMIM:150250
HP:0030680	Abnormal cardiovascular system morphology	2703	GJA8	OMIM:612474
HP:0030680	Abnormal cardiovascular system morphology	10664	CTCF	OMIM:615502
HP:0030680	Abnormal cardiovascular system morphology	10664	CTCF	ORPHA:363611
HP:0030680	Abnormal cardiovascular system morphology	9780	PIEZO1	OMIM:616843
HP:0030680	Abnormal cardiovascular system morphology	100151683	RNU4ATAC	OMIM:210710
HP:0030680	Abnormal cardiovascular system morphology	5648	MASP1	OMIM:257920
HP:0030680	Abnormal cardiovascular system morphology	2258	FGF13	OMIM:301058
HP:0030680	Abnormal cardiovascular system morphology	113179	ADAT3	ORPHA:363528
HP:0030680	Abnormal cardiovascular system morphology	3313	HSPA9	OMIM:616854
HP:0030680	Abnormal cardiovascular system morphology	10370	CITED2	OMIM:614433
HP:0030680	Abnormal cardiovascular system morphology	131118	DNAJC19	OMIM:610198
HP:0030680	Abnormal cardiovascular system morphology	4297	KMT2A	OMIM:605130
HP:0030680	Abnormal cardiovascular system morphology	10265	IRX5	OMIM:611174
HP:0030680	Abnormal cardiovascular system morphology	6606	SMN1	OMIM:253300
HP:0030680	Abnormal cardiovascular system morphology	5422	POLA1	OMIM:301030
HP:0030680	Abnormal cardiovascular system morphology	79576	NKAP	OMIM:301039
HP:0030680	Abnormal cardiovascular system morphology	25	ABL1	OMIM:617602
HP:0030680	Abnormal cardiovascular system morphology	57511	COG6	OMIM:614576
HP:0030680	Abnormal cardiovascular system morphology	6628	SNRPB	OMIM:117650
HP:0030680	Abnormal cardiovascular system morphology	55617	TASP1	OMIM:618950
HP:0030680	Abnormal cardiovascular system morphology	6857	SYT1	ORPHA:522077
HP:0030680	Abnormal cardiovascular system morphology	10293	TRAIP	OMIM:616777
HP:0030680	Abnormal cardiovascular system morphology	4780	NFE2L2	OMIM:617744
HP:0030680	Abnormal cardiovascular system morphology	3832	KIF11	ORPHA:2526
HP:0030680	Abnormal cardiovascular system morphology	5500	PPP1CB	OMIM:617506
HP:0030680	Abnormal cardiovascular system morphology	93649	MYOCD	OMIM:618719
HP:0030680	Abnormal cardiovascular system morphology	139285	AMER1	OMIM:300373
HP:0030680	Abnormal cardiovascular system morphology	8777	MPDZ	OMIM:615219
HP:0030680	Abnormal cardiovascular system morphology	5718	PSMD12	OMIM:617516
HP:0030680	Abnormal cardiovascular system morphology	9439	MED23	OMIM:614249
HP:0030680	Abnormal cardiovascular system morphology	9451	EIF2AK3	ORPHA:1667
HP:0030680	Abnormal cardiovascular system morphology	523	ATP6V1A	OMIM:617403
HP:0030680	Abnormal cardiovascular system morphology	7372	UMPS	OMIM:258900
HP:0030680	Abnormal cardiovascular system morphology	529	ATP6V1E1	OMIM:617402
HP:0030680	Abnormal cardiovascular system morphology	84148	KAT8	OMIM:618974
HP:0030680	Abnormal cardiovascular system morphology	2137	EXTL3	ORPHA:508533
HP:0030680	Abnormal cardiovascular system morphology	84627	ZNF469	OMIM:229200
HP:0030680	Abnormal cardiovascular system morphology	84627	ZNF469	ORPHA:90354
HP:0030680	Abnormal cardiovascular system morphology	652	BMP4	ORPHA:828
HP:0030680	Abnormal cardiovascular system morphology	170689	ADAMTS15	OMIM:620545
HP:0030680	Abnormal cardiovascular system morphology	4054	LTBP3	OMIM:601216
HP:0030680	Abnormal cardiovascular system morphology	2332	FMR1	ORPHA:449291
HP:0030680	Abnormal cardiovascular system morphology	2332	FMR1	OMIM:300624
HP:0030680	Abnormal cardiovascular system morphology	2332	FMR1	ORPHA:908
HP:0030680	Abnormal cardiovascular system morphology	56776	FMN2	OMIM:616193
HP:0030680	Abnormal cardiovascular system morphology	26278	SACS	ORPHA:98
HP:0030680	Abnormal cardiovascular system morphology	1280	COL2A1	ORPHA:90653
HP:0030680	Abnormal cardiovascular system morphology	1280	COL2A1	OMIM:108300
HP:0030680	Abnormal cardiovascular system morphology	11107	PRDM5	ORPHA:90354
HP:0030680	Abnormal cardiovascular system morphology	22873	DZIP1	OMIM:610840
HP:0030680	Abnormal cardiovascular system morphology	4883	NPR3	OMIM:619543
HP:0030680	Abnormal cardiovascular system morphology	161742	SPRED1	ORPHA:137605
HP:0030680	Abnormal cardiovascular system morphology	3791	KDR	ORPHA:3303
HP:0030680	Abnormal cardiovascular system morphology	8443	GNPAT	OMIM:222765
HP:0030680	Abnormal cardiovascular system morphology	26275	HIBCH	ORPHA:88639
HP:0030680	Abnormal cardiovascular system morphology	26275	HIBCH	OMIM:250620
HP:0030680	Abnormal cardiovascular system morphology	1147	CHUK	OMIM:613630
HP:0030680	Abnormal cardiovascular system morphology	7852	CXCR4	ORPHA:51636
HP:0030680	Abnormal cardiovascular system morphology	8092	ALX1	ORPHA:306542
HP:0030680	Abnormal cardiovascular system morphology	3579	CXCR2	OMIM:619407
HP:0030680	Abnormal cardiovascular system morphology	257	ALX3	OMIM:136760
HP:0030680	Abnormal cardiovascular system morphology	3106	HLA-B	ORPHA:36426
HP:0030680	Abnormal cardiovascular system morphology	3106	HLA-B	ORPHA:117
HP:0030680	Abnormal cardiovascular system morphology	10320	IKZF1	ORPHA:36426
HP:0030680	Abnormal cardiovascular system morphology	2629	GBA1	ORPHA:77261
HP:0030680	Abnormal cardiovascular system morphology	4000	LMNA	ORPHA:300751
HP:0030680	Abnormal cardiovascular system morphology	81031	SLC2A10	ORPHA:3342
HP:0030680	Abnormal cardiovascular system morphology	7132	TNFRSF1A	ORPHA:32960
HP:0030680	Abnormal cardiovascular system morphology	2717	GLA	ORPHA:324
HP:0030680	Abnormal cardiovascular system morphology	1376	CPT2	ORPHA:228308
HP:0030680	Abnormal cardiovascular system morphology	149233	IL23R	ORPHA:117
HP:0030680	Abnormal cardiovascular system morphology	6775	STAT4	ORPHA:117
HP:0030680	Abnormal cardiovascular system morphology	3586	IL10	ORPHA:117
HP:0030680	Abnormal cardiovascular system morphology	4210	MEFV	ORPHA:117
HP:0030680	Abnormal cardiovascular system morphology	1230	CCR1	ORPHA:117
HP:0030680	Abnormal cardiovascular system morphology	355	FAS	ORPHA:117
HP:0030680	Abnormal cardiovascular system morphology	3592	IL12A	ORPHA:117
HP:0030680	Abnormal cardiovascular system morphology	101928376	IL12A-AS1	ORPHA:117
HP:0030680	Abnormal cardiovascular system morphology	7099	TLR4	ORPHA:117
HP:0030680	Abnormal cardiovascular system morphology	3459	IFNGR1	ORPHA:117
HP:0030680	Abnormal cardiovascular system morphology	720	C4A	ORPHA:117
HP:0030680	Abnormal cardiovascular system morphology	337867	UBAC2	ORPHA:117
HP:0030680	Abnormal cardiovascular system morphology	51752	ERAP1	ORPHA:117
HP:0030680	Abnormal cardiovascular system morphology	8302	KLRC4	ORPHA:117
HP:0030680	Abnormal cardiovascular system morphology	29925	GMPPB	OMIM:615352
HP:0030680	Abnormal cardiovascular system morphology	29925	GMPPB	ORPHA:370959
HP:0030680	Abnormal cardiovascular system morphology	29925	GMPPB	ORPHA:363623
HP:0030680	Abnormal cardiovascular system morphology	80308	FLAD1	OMIM:255100
HP:0030680	Abnormal cardiovascular system morphology	50484	RRM2B	ORPHA:329336
HP:0030680	Abnormal cardiovascular system morphology	50484	RRM2B	ORPHA:480
HP:0030680	Abnormal cardiovascular system morphology	246243	RNASEH1	ORPHA:329336
HP:0030680	Abnormal cardiovascular system morphology	50717	DCAF8	OMIM:610100
HP:0030680	Abnormal cardiovascular system morphology	1355	COX15	OMIM:615119
HP:0030680	Abnormal cardiovascular system morphology	2997	GYS1	OMIM:611556
HP:0030680	Abnormal cardiovascular system morphology	148738	HJV	OMIM:602390
HP:0030680	Abnormal cardiovascular system morphology	4703	NEB	ORPHA:171433
HP:0030680	Abnormal cardiovascular system morphology	4703	NEB	ORPHA:171439
HP:0030680	Abnormal cardiovascular system morphology	4703	NEB	ORPHA:399103
HP:0030680	Abnormal cardiovascular system morphology	10324	KLHL41	ORPHA:171433
HP:0030680	Abnormal cardiovascular system morphology	10324	KLHL41	ORPHA:171439
HP:0030680	Abnormal cardiovascular system morphology	1352	COX10	OMIM:619046
HP:0030680	Abnormal cardiovascular system morphology	25782	RAB3GAP2	OMIM:212720
HP:0030680	Abnormal cardiovascular system morphology	30061	SLC40A1	OMIM:606069
HP:0030680	Abnormal cardiovascular system morphology	3908	LAMA2	ORPHA:258
HP:0030680	Abnormal cardiovascular system morphology	11155	LDB3	OMIM:609452
HP:0030680	Abnormal cardiovascular system morphology	11155	LDB3	ORPHA:98912
HP:0030680	Abnormal cardiovascular system morphology	1738	DLD	ORPHA:2394
HP:0030680	Abnormal cardiovascular system morphology	191	AHCY	OMIM:613752
HP:0030680	Abnormal cardiovascular system morphology	191	AHCY	ORPHA:88618
HP:0030680	Abnormal cardiovascular system morphology	8878	SQSTM1	ORPHA:603
HP:0030680	Abnormal cardiovascular system morphology	7072	TIA1	ORPHA:603
HP:0030680	Abnormal cardiovascular system morphology	7555	CNBP	ORPHA:606
HP:0030680	Abnormal cardiovascular system morphology	9499	MYOT	OMIM:609200
HP:0030680	Abnormal cardiovascular system morphology	9499	MYOT	ORPHA:98911
HP:0030680	Abnormal cardiovascular system morphology	10020	GNE	ORPHA:602
HP:0030680	Abnormal cardiovascular system morphology	10555	AGPAT2	OMIM:608594
HP:0030680	Abnormal cardiovascular system morphology	5095	PCCA	OMIM:606054
HP:0030680	Abnormal cardiovascular system morphology	5095	PCCA	ORPHA:35
HP:0030680	Abnormal cardiovascular system morphology	5096	PCCB	OMIM:606054
HP:0030680	Abnormal cardiovascular system morphology	5096	PCCB	ORPHA:35
HP:0030680	Abnormal cardiovascular system morphology	10367	MICU1	ORPHA:401768
HP:0030680	Abnormal cardiovascular system morphology	7466	WFS1	OMIM:222300
HP:0030680	Abnormal cardiovascular system morphology	7466	WFS1	ORPHA:3463
HP:0030680	Abnormal cardiovascular system morphology	2992	GYG1	ORPHA:263297
HP:0030680	Abnormal cardiovascular system morphology	10352	WARS2	ORPHA:572798
HP:0030680	Abnormal cardiovascular system morphology	10352	WARS2	OMIM:617710
HP:0030680	Abnormal cardiovascular system morphology	2395	FXN	ORPHA:95
HP:0030680	Abnormal cardiovascular system morphology	788	SLC25A20	ORPHA:159
HP:0030680	Abnormal cardiovascular system morphology	788	SLC25A20	OMIM:212138
HP:0030680	Abnormal cardiovascular system morphology	5373	PMM2	OMIM:212065
HP:0030680	Abnormal cardiovascular system morphology	10585	POMT1	OMIM:609308
HP:0030680	Abnormal cardiovascular system morphology	10585	POMT1	ORPHA:370959
HP:0030680	Abnormal cardiovascular system morphology	10585	POMT1	ORPHA:86812
HP:0030680	Abnormal cardiovascular system morphology	10585	POMT1	OMIM:613155
HP:0030680	Abnormal cardiovascular system morphology	51594	NBAS	OMIM:616483
HP:0030680	Abnormal cardiovascular system morphology	1594	CYP27B1	ORPHA:289157
HP:0030680	Abnormal cardiovascular system morphology	120227	CYP2R1	ORPHA:289157
HP:0030680	Abnormal cardiovascular system morphology	2318	FLNC	OMIM:614065
HP:0030680	Abnormal cardiovascular system morphology	2318	FLNC	ORPHA:171445
HP:0030680	Abnormal cardiovascular system morphology	2318	FLNC	ORPHA:63273
HP:0030680	Abnormal cardiovascular system morphology	84665	MYPN	OMIM:617336
HP:0030680	Abnormal cardiovascular system morphology	84665	MYPN	ORPHA:171439
HP:0030680	Abnormal cardiovascular system morphology	8239	USP9X	ORPHA:480880
HP:0030680	Abnormal cardiovascular system morphology	7058	THBS2	OMIM:620865
HP:0030680	Abnormal cardiovascular system morphology	3418	IDH2	OMIM:613657
HP:0030680	Abnormal cardiovascular system morphology	773	CACNA1A	ORPHA:2131
HP:0030680	Abnormal cardiovascular system morphology	6507	SLC1A3	ORPHA:2131
HP:0030680	Abnormal cardiovascular system morphology	477	ATP1A2	ORPHA:2131
HP:0030680	Abnormal cardiovascular system morphology	478	ATP1A3	ORPHA:2131
HP:0030680	Abnormal cardiovascular system morphology	493856	CISD2	ORPHA:3463
HP:0030680	Abnormal cardiovascular system morphology	9049	AIP	OMIM:102200
HP:0030680	Abnormal cardiovascular system morphology	728294	D2HGDH	OMIM:600721
HP:0030680	Abnormal cardiovascular system morphology	2934	GSN	ORPHA:85448
HP:0030680	Abnormal cardiovascular system morphology	2934	GSN	OMIM:105120
HP:0030680	Abnormal cardiovascular system morphology	111	ADCY5	OMIM:619647
HP:0030680	Abnormal cardiovascular system morphology	111	ADCY5	OMIM:619651
HP:0030680	Abnormal cardiovascular system morphology	25973	PARS2	OMIM:618437
HP:0030680	Abnormal cardiovascular system morphology	3178	HNRNPA1	ORPHA:52430
HP:0030680	Abnormal cardiovascular system morphology	7415	VCP	ORPHA:52430
HP:0030680	Abnormal cardiovascular system morphology	7415	VCP	ORPHA:329478
HP:0030680	Abnormal cardiovascular system morphology	3181	HNRNPA2B1	ORPHA:52430
HP:0030680	Abnormal cardiovascular system morphology	57724	EPG5	OMIM:242840
HP:0030680	Abnormal cardiovascular system morphology	57724	EPG5	ORPHA:1493
HP:0030680	Abnormal cardiovascular system morphology	390594	KBTBD13	ORPHA:171439
HP:0030680	Abnormal cardiovascular system morphology	57817	HAMP	OMIM:613313
HP:0030680	Abnormal cardiovascular system morphology	404672	GTF2H5	ORPHA:33364
HP:0030680	Abnormal cardiovascular system morphology	833	CARS1	ORPHA:33364
HP:0030680	Abnormal cardiovascular system morphology	2068	ERCC2	ORPHA:33364
HP:0030680	Abnormal cardiovascular system morphology	7737	RNF113A	ORPHA:33364
HP:0030680	Abnormal cardiovascular system morphology	136647	MPLKIP	ORPHA:33364
HP:0030680	Abnormal cardiovascular system morphology	6897	TARS1	ORPHA:33364
HP:0030680	Abnormal cardiovascular system morphology	16	AARS1	ORPHA:33364
HP:0030680	Abnormal cardiovascular system morphology	2071	ERCC3	ORPHA:33364
HP:0030680	Abnormal cardiovascular system morphology	2961	GTF2E2	ORPHA:33364
HP:0030680	Abnormal cardiovascular system morphology	23676	SMPX	OMIM:301075
HP:0030680	Abnormal cardiovascular system morphology	4509	MT-ATP8	ORPHA:480
HP:0030680	Abnormal cardiovascular system morphology	4567	MT-TL1	ORPHA:480
HP:0030680	Abnormal cardiovascular system morphology	4567	MT-TL1	ORPHA:550
HP:0030680	Abnormal cardiovascular system morphology	4567	MT-TL1	ORPHA:324525
HP:0030680	Abnormal cardiovascular system morphology	5256	PHKA2	ORPHA:264580
HP:0030680	Abnormal cardiovascular system morphology	5261	PHKG2	ORPHA:264580
HP:0030680	Abnormal cardiovascular system morphology	6443	SGCB	ORPHA:119
HP:0030680	Abnormal cardiovascular system morphology	4594	MMUT	ORPHA:79312
HP:0030680	Abnormal cardiovascular system morphology	4594	MMUT	OMIM:251000
HP:0030680	Abnormal cardiovascular system morphology	4558	MT-TF	ORPHA:550
HP:0030680	Abnormal cardiovascular system morphology	4572	MT-TQ	ORPHA:550
HP:0030680	Abnormal cardiovascular system morphology	4512	MT-CO1	ORPHA:550
HP:0030680	Abnormal cardiovascular system morphology	4513	MT-CO2	ORPHA:550
HP:0030680	Abnormal cardiovascular system morphology	4514	MT-CO3	ORPHA:550
HP:0030680	Abnormal cardiovascular system morphology	4578	MT-TW	ORPHA:550
HP:0030680	Abnormal cardiovascular system morphology	4540	MT-ND5	ORPHA:550
HP:0030680	Abnormal cardiovascular system morphology	4541	MT-ND6	ORPHA:550
HP:0030680	Abnormal cardiovascular system morphology	4535	MT-ND1	ORPHA:550
HP:0030680	Abnormal cardiovascular system morphology	4538	MT-ND4	ORPHA:550
HP:0030680	Abnormal cardiovascular system morphology	4574	MT-TS1	ORPHA:550
HP:0030680	Abnormal cardiovascular system morphology	4575	MT-TS2	ORPHA:550
HP:0030680	Abnormal cardiovascular system morphology	4564	MT-TH	ORPHA:550
HP:0030680	Abnormal cardiovascular system morphology	2632	GBE1	OMIM:232500
HP:0030680	Abnormal cardiovascular system morphology	1410	CRYAB	ORPHA:399058
HP:0030680	Abnormal cardiovascular system morphology	4508	MT-ATP6	ORPHA:320360
HP:0030680	Abnormal cardiovascular system morphology	1756	DMD	OMIM:310200
HP:0030680	Abnormal cardiovascular system morphology	1756	DMD	ORPHA:98896
HP:0030680	Abnormal cardiovascular system morphology	1756	DMD	OMIM:300376
HP:0030680	Abnormal cardiovascular system morphology	5428	POLG	OMIM:258450
HP:0030680	Abnormal cardiovascular system morphology	5428	POLG	ORPHA:254886
HP:0030680	Abnormal cardiovascular system morphology	81570	CLPB	ORPHA:445038
HP:0030680	Abnormal cardiovascular system morphology	411	ARSB	OMIM:253200
HP:0030680	Abnormal cardiovascular system morphology	6442	SGCA	OMIM:608099
HP:0030680	Abnormal cardiovascular system morphology	7084	TK2	ORPHA:254886
HP:0030680	Abnormal cardiovascular system morphology	3714	JAG2	OMIM:619566
HP:0030680	Abnormal cardiovascular system morphology	10073	SNUPN	OMIM:620793
HP:0030680	Abnormal cardiovascular system morphology	10560	SLC19A2	OMIM:249270
HP:0030680	Abnormal cardiovascular system morphology	10616	RBCK1	OMIM:615895
HP:0030680	Abnormal cardiovascular system morphology	9325	TRIP4	OMIM:616866
HP:0030680	Abnormal cardiovascular system morphology	56652	TWNK	OMIM:609286
HP:0030680	Abnormal cardiovascular system morphology	2771	GNAI2	OMIM:192605
HP:0030680	Abnormal cardiovascular system morphology	8425	LTBP4	ORPHA:98896
HP:0030680	Abnormal cardiovascular system morphology	4976	OPA1	ORPHA:1215
HP:0030680	Abnormal cardiovascular system morphology	51095	TRNT1	OMIM:616084
HP:0030680	Abnormal cardiovascular system morphology	4576	MT-TT	ORPHA:254857
HP:0030680	Abnormal cardiovascular system morphology	35	ACADS	OMIM:201470
HP:0030680	Abnormal cardiovascular system morphology	35	ACADS	ORPHA:26792
HP:0030680	Abnormal cardiovascular system morphology	3257	HPS1	OMIM:203300
HP:0030680	Abnormal cardiovascular system morphology	3704	ITPA	OMIM:616647
HP:0030680	Abnormal cardiovascular system morphology	3032	HADHB	ORPHA:746
HP:0030680	Abnormal cardiovascular system morphology	3030	HADHA	ORPHA:746
HP:0030680	Abnormal cardiovascular system morphology	3030	HADHA	OMIM:609016
HP:0030680	Abnormal cardiovascular system morphology	7036	TFR2	OMIM:604250
HP:0030680	Abnormal cardiovascular system morphology	79147	FKRP	ORPHA:370959
HP:0030680	Abnormal cardiovascular system morphology	29954	POMT2	ORPHA:370959
HP:0030680	Abnormal cardiovascular system morphology	84197	POMK	ORPHA:370959
HP:0030680	Abnormal cardiovascular system morphology	55624	POMGNT1	ORPHA:370959
HP:0030680	Abnormal cardiovascular system morphology	4716	NDUFB10	OMIM:619003
HP:0030680	Abnormal cardiovascular system morphology	7504	XK	OMIM:300842
HP:0030680	Abnormal cardiovascular system morphology	283459	GATC	OMIM:618839
HP:0030680	Abnormal cardiovascular system morphology	55670	PEX26	ORPHA:772
HP:0030680	Abnormal cardiovascular system morphology	5824	PEX19	ORPHA:772
HP:0030680	Abnormal cardiovascular system morphology	5828	PEX2	ORPHA:772
HP:0030680	Abnormal cardiovascular system morphology	8504	PEX3	ORPHA:772
HP:0030680	Abnormal cardiovascular system morphology	9409	PEX16	ORPHA:772
HP:0030680	Abnormal cardiovascular system morphology	5190	PEX6	ORPHA:772
HP:0030680	Abnormal cardiovascular system morphology	8799	PEX11B	ORPHA:772
HP:0030680	Abnormal cardiovascular system morphology	5189	PEX1	ORPHA:772
HP:0030680	Abnormal cardiovascular system morphology	5193	PEX12	ORPHA:772
HP:0030680	Abnormal cardiovascular system morphology	5194	PEX13	ORPHA:772
HP:0030680	Abnormal cardiovascular system morphology	5195	PEX14	ORPHA:772
HP:0030680	Abnormal cardiovascular system morphology	5192	PEX10	ORPHA:772
HP:0030680	Abnormal cardiovascular system morphology	7428	VHL	ORPHA:892
HP:0030680	Abnormal cardiovascular system morphology	595	CCND1	ORPHA:892
HP:0030680	Abnormal cardiovascular system morphology	178	AGL	OMIM:232400
HP:0030680	Abnormal cardiovascular system morphology	51099	ABHD5	ORPHA:98907
HP:0030680	Abnormal cardiovascular system morphology	84700	MYO18B	OMIM:616549
HP:0030680	Abnormal cardiovascular system morphology	55005	RMND1	OMIM:614922
HP:0030680	Abnormal cardiovascular system morphology	3643	INSR	ORPHA:769
HP:0030680	Abnormal cardiovascular system morphology	23224	SYNE2	OMIM:612999
HP:0030680	Abnormal cardiovascular system morphology	203859	ANO5	ORPHA:206549
HP:0030680	Abnormal cardiovascular system morphology	25915	NDUFAF3	ORPHA:2609
HP:0030680	Abnormal cardiovascular system morphology	51103	NDUFAF1	ORPHA:2609
HP:0030680	Abnormal cardiovascular system morphology	51103	NDUFAF1	OMIM:618234
HP:0030680	Abnormal cardiovascular system morphology	91942	NDUFAF2	ORPHA:2609
HP:0030680	Abnormal cardiovascular system morphology	51300	TIMMDC1	ORPHA:2609
HP:0030680	Abnormal cardiovascular system morphology	4723	NDUFV1	ORPHA:2609
HP:0030680	Abnormal cardiovascular system morphology	55572	FOXRED1	ORPHA:2609
HP:0030680	Abnormal cardiovascular system morphology	55572	FOXRED1	OMIM:618241
HP:0030680	Abnormal cardiovascular system morphology	284184	NDUFAF8	ORPHA:2609
HP:0030680	Abnormal cardiovascular system morphology	4537	MT-ND3	ORPHA:2609
HP:0030680	Abnormal cardiovascular system morphology	4537	MT-ND3	ORPHA:255210
HP:0030680	Abnormal cardiovascular system morphology	4729	NDUFV2	ORPHA:2609
HP:0030680	Abnormal cardiovascular system morphology	4729	NDUFV2	OMIM:618229
HP:0030680	Abnormal cardiovascular system morphology	4694	NDUFA1	ORPHA:2609
HP:0030680	Abnormal cardiovascular system morphology	4720	NDUFS2	ORPHA:2609
HP:0030680	Abnormal cardiovascular system morphology	4720	NDUFS2	OMIM:618228
HP:0030680	Abnormal cardiovascular system morphology	4724	NDUFS4	ORPHA:2609
HP:0030680	Abnormal cardiovascular system morphology	4724	NDUFS4	OMIM:252010
HP:0030680	Abnormal cardiovascular system morphology	4726	NDUFS6	ORPHA:2609
HP:0030680	Abnormal cardiovascular system morphology	4728	NDUFS8	ORPHA:2609
HP:0030680	Abnormal cardiovascular system morphology	4728	NDUFS8	OMIM:618222
HP:0030680	Abnormal cardiovascular system morphology	4722	NDUFS3	ORPHA:2609
HP:0030680	Abnormal cardiovascular system morphology	79133	NDUFAF5	ORPHA:2609
HP:0030680	Abnormal cardiovascular system morphology	126328	NDUFA11	ORPHA:2609
HP:0030680	Abnormal cardiovascular system morphology	126328	NDUFA11	OMIM:618236
HP:0030680	Abnormal cardiovascular system morphology	4709	NDUFB3	ORPHA:2609
HP:0030680	Abnormal cardiovascular system morphology	80224	NUBPL	ORPHA:2609
HP:0030680	Abnormal cardiovascular system morphology	29078	NDUFAF4	ORPHA:2609
HP:0030680	Abnormal cardiovascular system morphology	29078	NDUFAF4	OMIM:618237
HP:0030680	Abnormal cardiovascular system morphology	374291	NDUFS7	ORPHA:2609
HP:0030680	Abnormal cardiovascular system morphology	4700	NDUFA6	ORPHA:2609
HP:0030680	Abnormal cardiovascular system morphology	4536	MT-ND2	ORPHA:2609
HP:0030680	Abnormal cardiovascular system morphology	4536	MT-ND2	ORPHA:255210
HP:0030680	Abnormal cardiovascular system morphology	4719	NDUFS1	ORPHA:2609
HP:0030680	Abnormal cardiovascular system morphology	4715	NDUFB9	ORPHA:2609
HP:0030680	Abnormal cardiovascular system morphology	4570	MT-TN	OMIM:220110
HP:0030680	Abnormal cardiovascular system morphology	6834	SURF1	OMIM:220110
HP:0030680	Abnormal cardiovascular system morphology	55532	SLC30A10	ORPHA:309854
HP:0030680	Abnormal cardiovascular system morphology	84334	COA8	ORPHA:436271
HP:0030680	Abnormal cardiovascular system morphology	57176	VARS2	OMIM:615917
HP:0030680	Abnormal cardiovascular system morphology	9690	UBE3C	OMIM:620270
HP:0030680	Abnormal cardiovascular system morphology	4577	MT-TV	ORPHA:255210
HP:0030680	Abnormal cardiovascular system morphology	84987	COX14	OMIM:619053
HP:0030680	Abnormal cardiovascular system morphology	514	ATP5F1E	ORPHA:254913
HP:0030680	Abnormal cardiovascular system morphology	514	ATP5F1E	OMIM:614053
HP:0030680	Abnormal cardiovascular system morphology	513	ATP5F1D	ORPHA:254913
HP:0030680	Abnormal cardiovascular system morphology	498	ATP5F1A	ORPHA:254913
HP:0030680	Abnormal cardiovascular system morphology	84833	ATP5MK	ORPHA:254913
HP:0030680	Abnormal cardiovascular system morphology	84833	ATP5MK	OMIM:618683
HP:0030680	Abnormal cardiovascular system morphology	91647	ATPAF2	ORPHA:254913
HP:0030680	Abnormal cardiovascular system morphology	1757	SARDH	ORPHA:3129
HP:0030680	Abnormal cardiovascular system morphology	5468	PPARG	ORPHA:79083
HP:0030680	Abnormal cardiovascular system morphology	5468	PPARG	ORPHA:528
HP:0030680	Abnormal cardiovascular system morphology	5350	PLN	OMIM:613874
HP:0030680	Abnormal cardiovascular system morphology	91624	NEXN	OMIM:613876
HP:0030680	Abnormal cardiovascular system morphology	29967	LRP12	OMIM:164310
HP:0030680	Abnormal cardiovascular system morphology	54675	CRLS1	OMIM:620167
HP:0030680	Abnormal cardiovascular system morphology	7274	TTPA	ORPHA:96
HP:0030680	Abnormal cardiovascular system morphology	388962	BOLA3	OMIM:614299
HP:0030680	Abnormal cardiovascular system morphology	7168	TPM1	OMIM:115196
HP:0030680	Abnormal cardiovascular system morphology	65080	MRPL44	OMIM:615395
HP:0030680	Abnormal cardiovascular system morphology	8557	TCAP	OMIM:607487
HP:0030680	Abnormal cardiovascular system morphology	55210	ATAD3A	ORPHA:496790
HP:0030680	Abnormal cardiovascular system morphology	55210	ATAD3A	OMIM:618810
HP:0030680	Abnormal cardiovascular system morphology	55210	ATAD3A	OMIM:617183
HP:0030680	Abnormal cardiovascular system morphology	4285	MIPEP	OMIM:617228
HP:0030680	Abnormal cardiovascular system morphology	4221	MEN1	ORPHA:99725
HP:0030680	Abnormal cardiovascular system morphology	10661	KLF1	OMIM:613673
HP:0030680	Abnormal cardiovascular system morphology	125988	MICOS13	OMIM:618329
HP:0030680	Abnormal cardiovascular system morphology	6390	SDHB	ORPHA:3208
HP:0030680	Abnormal cardiovascular system morphology	6392	SDHD	ORPHA:3208
HP:0030680	Abnormal cardiovascular system morphology	644096	SDHAF1	ORPHA:3208
HP:0030680	Abnormal cardiovascular system morphology	54148	MRPL39	OMIM:620646
HP:0030680	Abnormal cardiovascular system morphology	122622	ADSS1	ORPHA:482601
HP:0030680	Abnormal cardiovascular system morphology	2184	FAH	OMIM:276700
HP:0030680	Abnormal cardiovascular system morphology	5836	PYGL	ORPHA:369
HP:0030680	Abnormal cardiovascular system morphology	5837	PYGM	ORPHA:368
HP:0030680	Abnormal cardiovascular system morphology	2010	EMD	ORPHA:98863
HP:0030680	Abnormal cardiovascular system morphology	56246	MRAP	ORPHA:361
HP:0030680	Abnormal cardiovascular system morphology	6770	STAR	ORPHA:361
HP:0030680	Abnormal cardiovascular system morphology	4158	MC2R	ORPHA:361
HP:0030680	Abnormal cardiovascular system morphology	23530	NNT	ORPHA:361
HP:0030680	Abnormal cardiovascular system morphology	10587	TXNRD2	ORPHA:361
HP:0030680	Abnormal cardiovascular system morphology	1892	ECHS1	OMIM:616277
HP:0030680	Abnormal cardiovascular system morphology	51067	YARS2	OMIM:613561
HP:0030680	Abnormal cardiovascular system morphology	58497	PRUNE1	ORPHA:544469
HP:0030680	Abnormal cardiovascular system morphology	826	CAPNS1	OMIM:620777
HP:0030680	Abnormal cardiovascular system morphology	7351	UCP2	ORPHA:276556
HP:0030680	Abnormal cardiovascular system morphology	84705	GTPBP3	ORPHA:444013
HP:0030680	Abnormal cardiovascular system morphology	84705	GTPBP3	OMIM:616198
HP:0030680	Abnormal cardiovascular system morphology	79188	TMEM43	ORPHA:98853
HP:0030680	Abnormal cardiovascular system morphology	23345	SYNE1	ORPHA:98853
HP:0030680	Abnormal cardiovascular system morphology	3033	HADH	OMIM:231530
HP:0030680	Abnormal cardiovascular system morphology	3033	HADH	ORPHA:71212
HP:0030680	Abnormal cardiovascular system morphology	5250	SLC25A3	ORPHA:91130
HP:0030680	Abnormal cardiovascular system morphology	5250	SLC25A3	OMIM:610773
HP:0030680	Abnormal cardiovascular system morphology	291	SLC25A4	ORPHA:1369
HP:0030680	Abnormal cardiovascular system morphology	291	SLC25A4	OMIM:615418
HP:0030680	Abnormal cardiovascular system morphology	291	SLC25A4	OMIM:617184
HP:0030680	Abnormal cardiovascular system morphology	26007	TKFC	ORPHA:1369
HP:0030680	Abnormal cardiovascular system morphology	55750	AGK	ORPHA:1369
HP:0030680	Abnormal cardiovascular system morphology	55750	AGK	OMIM:212350
HP:0030680	Abnormal cardiovascular system morphology	56945	MRPS22	OMIM:611719
HP:0030680	Abnormal cardiovascular system morphology	4695	NDUFA2	OMIM:618235
HP:0030680	Abnormal cardiovascular system morphology	79068	FTO	OMIM:612938
HP:0030680	Abnormal cardiovascular system morphology	27235	COQ2	OMIM:607426
HP:0030680	Abnormal cardiovascular system morphology	4705	NDUFA10	OMIM:618243
HP:0030680	Abnormal cardiovascular system morphology	388753	COA6	OMIM:616501
HP:0030680	Abnormal cardiovascular system morphology	11080	DNAJB4	OMIM:620326
HP:0030680	Abnormal cardiovascular system morphology	63931	MRPS14	OMIM:618378
HP:0030680	Abnormal cardiovascular system morphology	8802	SUCLG1	ORPHA:17
HP:0030680	Abnormal cardiovascular system morphology	7289	TULP3	OMIM:619902
HP:0030680	Abnormal cardiovascular system morphology	7134	TNNC1	OMIM:613243
HP:0030680	Abnormal cardiovascular system morphology	9531	BAG3	OMIM:612954
HP:0030680	Abnormal cardiovascular system morphology	11019	LIAS	OMIM:614462
HP:0030680	Abnormal cardiovascular system morphology	26580	BSCL2	OMIM:269700
HP:0030680	Abnormal cardiovascular system morphology	26580	BSCL2	ORPHA:528
HP:0030680	Abnormal cardiovascular system morphology	11222	MRPL3	OMIM:614582
HP:0030680	Abnormal cardiovascular system morphology	7167	TPI1	ORPHA:868
HP:0030680	Abnormal cardiovascular system morphology	7040	TGFB1	ORPHA:1328
HP:0030680	Abnormal cardiovascular system morphology	6472	SHMT2	OMIM:619121
HP:0030680	Abnormal cardiovascular system morphology	60528	ELAC2	OMIM:615440
HP:0030680	Abnormal cardiovascular system morphology	55278	QRSL1	OMIM:618835
HP:0030680	Abnormal cardiovascular system morphology	57570	TRMT5	OMIM:616539
HP:0030680	Abnormal cardiovascular system morphology	617	BCS1L	OMIM:124000
HP:0030680	Abnormal cardiovascular system morphology	2353	FOS	ORPHA:528
HP:0030680	Abnormal cardiovascular system morphology	857	CAV1	ORPHA:528
HP:0030680	Abnormal cardiovascular system morphology	84233	TMEM126A	OMIM:612989
HP:0030680	Abnormal cardiovascular system morphology	51778	MYOZ2	OMIM:613838
HP:0030680	Abnormal cardiovascular system morphology	9054	NFS1	OMIM:619386
HP:0030680	Abnormal cardiovascular system morphology	96459	FNIP1	OMIM:619705
HP:0030680	Abnormal cardiovascular system morphology	22868	FASTKD2	OMIM:618855
HP:0030680	Abnormal cardiovascular system morphology	51422	PRKAG2	OMIM:261740
HP:0030680	Abnormal cardiovascular system morphology	1832	DSP	ORPHA:158687
HP:0030680	Abnormal cardiovascular system morphology	1317	SLC31A1	OMIM:620306
HP:0030680	Abnormal cardiovascular system morphology	25821	MTO1	OMIM:614702
HP:0030680	Abnormal cardiovascular system morphology	8291	DYSF	ORPHA:268
HP:0030680	Abnormal cardiovascular system morphology	55315	SLC29A3	OMIM:602782
HP:0030680	Abnormal cardiovascular system morphology	91754	NEK9	OMIM:617022
HP:0030680	Abnormal cardiovascular system morphology	3074	HEXB	OMIM:268800
HP:0030680	Abnormal cardiovascular system morphology	5191	PEX7	OMIM:266500
HP:0030680	Abnormal cardiovascular system morphology	5264	PHYH	OMIM:266500
HP:0030680	Abnormal cardiovascular system morphology	5698	PSMB9	OMIM:620796
HP:0030680	Abnormal cardiovascular system morphology	3764	KCNJ8	ORPHA:1517
HP:0030680	Abnormal cardiovascular system morphology	10060	ABCC9	ORPHA:1517
HP:0030680	Abnormal cardiovascular system morphology	10060	ABCC9	OMIM:239850
HP:0030680	Abnormal cardiovascular system morphology	1340	COX6B1	OMIM:619051
HP:0030680	Abnormal cardiovascular system morphology	64135	IFIH1	OMIM:182250
HP:0030680	Abnormal cardiovascular system morphology	64135	IFIH1	ORPHA:51
HP:0030680	Abnormal cardiovascular system morphology	4718	NDUFC2	OMIM:619170
HP:0030680	Abnormal cardiovascular system morphology	3043	HBB	OMIM:603903
HP:0030680	Abnormal cardiovascular system morphology	6773	STAT2	OMIM:618886
HP:0030680	Abnormal cardiovascular system morphology	708	C1QBP	OMIM:617713
HP:0030680	Abnormal cardiovascular system morphology	7276	TTR	OMIM:105210
HP:0030680	Abnormal cardiovascular system morphology	7276	TTR	ORPHA:85447
HP:0030680	Abnormal cardiovascular system morphology	7276	TTR	ORPHA:85451
HP:0030680	Abnormal cardiovascular system morphology	4547	MTTP	ORPHA:14
HP:0030680	Abnormal cardiovascular system morphology	9377	COX5A	OMIM:619064
HP:0030680	Abnormal cardiovascular system morphology	171023	ASXL1	ORPHA:97297
HP:0030680	Abnormal cardiovascular system morphology	9896	FIG4	ORPHA:3472
HP:0030680	Abnormal cardiovascular system morphology	55697	VAC14	ORPHA:3472
HP:0030680	Abnormal cardiovascular system morphology	22884	WDR37	OMIM:618652
HP:0030680	Abnormal cardiovascular system morphology	1193	CLIC2	ORPHA:324410
HP:0030680	Abnormal cardiovascular system morphology	88	ACTN2	OMIM:618654
HP:0030680	Abnormal cardiovascular system morphology	64121	RRAGC	OMIM:620609
HP:0030680	Abnormal cardiovascular system morphology	4591	TRIM37	OMIM:253250
HP:0030680	Abnormal cardiovascular system morphology	650	BMP2	OMIM:235200
HP:0030680	Abnormal cardiovascular system morphology	3077	HFE	OMIM:235200
HP:0030680	Abnormal cardiovascular system morphology	3077	HFE	ORPHA:465508
HP:0030680	Abnormal cardiovascular system morphology	3028	HSD17B10	ORPHA:391428
HP:0030680	Abnormal cardiovascular system morphology	9997	SCO2	OMIM:604377
HP:0030680	Abnormal cardiovascular system morphology	37	ACADVL	OMIM:201475
HP:0030680	Abnormal cardiovascular system morphology	4607	MYBPC3	OMIM:115197
HP:0030680	Abnormal cardiovascular system morphology	94005	PIGS	OMIM:618143
HP:0030680	Abnormal cardiovascular system morphology	54914	FOCAD	OMIM:619991
HP:0030680	Abnormal cardiovascular system morphology	2517	FUCA1	OMIM:230000
HP:0030680	Abnormal cardiovascular system morphology	2517	FUCA1	ORPHA:349
HP:0030680	Abnormal cardiovascular system morphology	2548	GAA	OMIM:232300
HP:0030680	Abnormal cardiovascular system morphology	2548	GAA	ORPHA:308552
HP:0030680	Abnormal cardiovascular system morphology	4519	MT-CYB	ORPHA:137675
HP:0030680	Abnormal cardiovascular system morphology	6804	STX1A	ORPHA:904
HP:0030680	Abnormal cardiovascular system morphology	7461	CLIP2	ORPHA:904
HP:0030680	Abnormal cardiovascular system morphology	84277	DNAJC30	ORPHA:904
HP:0030680	Abnormal cardiovascular system morphology	8468	FKBP6	ORPHA:904
HP:0030680	Abnormal cardiovascular system morphology	5982	RFC2	ORPHA:904
HP:0030680	Abnormal cardiovascular system morphology	2969	GTF2I	ORPHA:904
HP:0030680	Abnormal cardiovascular system morphology	3984	LIMK1	ORPHA:904
HP:0030680	Abnormal cardiovascular system morphology	9569	GTF2IRD1	ORPHA:904
HP:0030680	Abnormal cardiovascular system morphology	155382	VPS37D	ORPHA:904
HP:0030680	Abnormal cardiovascular system morphology	155368	METTL27	ORPHA:904
HP:0030680	Abnormal cardiovascular system morphology	114049	BUD23	ORPHA:904
HP:0030680	Abnormal cardiovascular system morphology	7458	EIF4H	ORPHA:904
HP:0030680	Abnormal cardiovascular system morphology	84163	GTF2IRD2	ORPHA:904
HP:0030680	Abnormal cardiovascular system morphology	26608	TBL2	ORPHA:904
HP:0030680	Abnormal cardiovascular system morphology	653361	NCF1	ORPHA:904
HP:0030680	Abnormal cardiovascular system morphology	135886	TMEM270	ORPHA:904
HP:0030680	Abnormal cardiovascular system morphology	9031	BAZ1B	ORPHA:904
HP:0030680	Abnormal cardiovascular system morphology	2006	ELN	ORPHA:904
HP:0030680	Abnormal cardiovascular system morphology	2006	ELN	ORPHA:91387
HP:0030680	Abnormal cardiovascular system morphology	83475	DOHH	OMIM:620066
HP:0030680	Abnormal cardiovascular system morphology	1674	DES	OMIM:604765
HP:0030680	Abnormal cardiovascular system morphology	374354	NHLRC2	OMIM:618278
HP:0030680	Abnormal cardiovascular system morphology	4841	NONO	OMIM:300967
HP:0030680	Abnormal cardiovascular system morphology	202018	TAPT1	OMIM:616897
HP:0030680	Abnormal cardiovascular system morphology	5188	GATB	OMIM:618838
HP:0030680	Abnormal cardiovascular system morphology	200424	TET3	OMIM:618798
HP:0030680	Abnormal cardiovascular system morphology	5573	PRKAR1A	ORPHA:615
HP:0030680	Abnormal cardiovascular system morphology	7841	MOGS	ORPHA:79330
HP:0030680	Abnormal cardiovascular system morphology	2273	FHL1	OMIM:300280
HP:0030680	Abnormal cardiovascular system morphology	34	ACADM	ORPHA:42
HP:0030680	Abnormal cardiovascular system morphology	775	CACNA1C	OMIM:601005
HP:0030680	Abnormal cardiovascular system morphology	3920	LAMP2	OMIM:300257
HP:0030680	Abnormal cardiovascular system morphology	6389	SDHA	OMIM:619259
HP:0030680	Abnormal cardiovascular system morphology	26503	SLC17A5	OMIM:269920
HP:0030680	Abnormal cardiovascular system morphology	1028	CDKN1C	OMIM:130650
HP:0030680	Abnormal cardiovascular system morphology	3784	KCNQ1	OMIM:130650
HP:0030680	Abnormal cardiovascular system morphology	1374	CPT1A	OMIM:255120
HP:0030680	Abnormal cardiovascular system morphology	4668	NAGA	ORPHA:79280
HP:0030680	Abnormal cardiovascular system morphology	5236	PGM1	OMIM:614921
HP:0030680	Abnormal cardiovascular system morphology	654	BMP6	ORPHA:465508
HP:0030680	Abnormal cardiovascular system morphology	79645	CLXN	OMIM:620642
HP:0030680	Abnormal cardiovascular system morphology	26229	B3GAT3	OMIM:245600
HP:0030680	Abnormal cardiovascular system morphology	57538	ALPK3	OMIM:618052
HP:0030680	Abnormal cardiovascular system morphology	57505	AARS2	OMIM:614096
HP:0030680	Abnormal cardiovascular system morphology	51025	PAM16	OMIM:613320
HP:0030680	Abnormal cardiovascular system morphology	335	APOA1	OMIM:620657
HP:0030680	Abnormal cardiovascular system morphology	4713	NDUFB7	OMIM:620135
HP:0030680	Abnormal cardiovascular system morphology	5696	PSMB8	OMIM:256040
HP:0030680	Abnormal cardiovascular system morphology	4669	NAGLU	OMIM:252920
HP:0030680	Abnormal cardiovascular system morphology	10535	RNASEH2A	ORPHA:51
HP:0030680	Abnormal cardiovascular system morphology	84153	RNASEH2C	ORPHA:51
HP:0030680	Abnormal cardiovascular system morphology	25939	SAMHD1	ORPHA:51
HP:0030680	Abnormal cardiovascular system morphology	79621	RNASEH2B	ORPHA:51
HP:0030680	Abnormal cardiovascular system morphology	103	ADAR	ORPHA:51
HP:0030680	Abnormal cardiovascular system morphology	11277	TREX1	ORPHA:51
HP:0030680	Abnormal cardiovascular system morphology	100147744	RNU7-1	ORPHA:51
HP:0030680	Abnormal cardiovascular system morphology	134353	LSM11	ORPHA:51
HP:0030680	Abnormal cardiovascular system morphology	4067	LYN	OMIM:620376
HP:0030680	Abnormal cardiovascular system morphology	7046	TGFBR1	ORPHA:91387
HP:0030680	Abnormal cardiovascular system morphology	7048	TGFBR2	ORPHA:91387
HP:0030680	Abnormal cardiovascular system morphology	4015	LOX	ORPHA:91387
HP:0030680	Abnormal cardiovascular system morphology	4087	SMAD2	ORPHA:91387
HP:0030680	Abnormal cardiovascular system morphology	7043	TGFB3	ORPHA:91387
HP:0030680	Abnormal cardiovascular system morphology	7042	TGFB2	ORPHA:91387
HP:0030680	Abnormal cardiovascular system morphology	4089	SMAD4	ORPHA:91387
HP:0030680	Abnormal cardiovascular system morphology	59	ACTA2	ORPHA:91387
HP:0030680	Abnormal cardiovascular system morphology	5592	PRKG1	ORPHA:91387
HP:0030680	Abnormal cardiovascular system morphology	2301	FOXE3	ORPHA:91387
HP:0030680	Abnormal cardiovascular system morphology	4144	MAT2A	ORPHA:91387
HP:0030680	Abnormal cardiovascular system morphology	23493	HEY2	ORPHA:91387
HP:0030680	Abnormal cardiovascular system morphology	8076	MFAP5	ORPHA:91387
HP:0030680	Abnormal cardiovascular system morphology	79875	THSD4	ORPHA:91387
HP:0030680	Abnormal cardiovascular system morphology	90952	ESAM	OMIM:620371
HP:0030680	Abnormal cardiovascular system morphology	6584	SLC22A5	OMIM:212140
HP:0030680	Abnormal cardiovascular system morphology	54968	TMEM70	ORPHA:1194
HP:0030680	Abnormal cardiovascular system morphology	64359	NXN	ORPHA:1507
HP:0030680	Abnormal cardiovascular system morphology	3516	RBPJ	ORPHA:974
HP:0030680	Abnormal cardiovascular system morphology	4851	NOTCH1	ORPHA:974
HP:0030680	Abnormal cardiovascular system morphology	57514	ARHGAP31	ORPHA:974
HP:0030680	Abnormal cardiovascular system morphology	57572	DOCK6	ORPHA:974
HP:0030680	Abnormal cardiovascular system morphology	285203	EOGT	ORPHA:974
HP:0030680	Abnormal cardiovascular system morphology	54567	DLL4	ORPHA:974
HP:0030680	Abnormal cardiovascular system morphology	10312	TCIRG1	ORPHA:667
HP:0030680	Abnormal cardiovascular system morphology	1186	CLCN7	ORPHA:667
HP:0030680	Abnormal cardiovascular system morphology	29887	SNX10	ORPHA:667
HP:0030680	Abnormal cardiovascular system morphology	8600	TNFSF11	ORPHA:667
HP:0030680	Abnormal cardiovascular system morphology	1718	DHCR24	OMIM:602398
HP:0030680	Abnormal cardiovascular system morphology	1718	DHCR24	ORPHA:35107
HP:0030680	Abnormal cardiovascular system morphology	8726	EED	OMIM:617561
HP:0030680	Abnormal cardiovascular system morphology	57178	ZMIZ1	OMIM:618659
HP:0030680	Abnormal cardiovascular system morphology	5950	RBP4	OMIM:615147
HP:0030680	Abnormal cardiovascular system morphology	213	ALB	OMIM:616000
HP:0030680	Abnormal cardiovascular system morphology	57863	CADM3	OMIM:619519
HP:0030680	Abnormal cardiovascular system morphology	27429	HTRA2	OMIM:617248
HP:0030680	Abnormal cardiovascular system morphology	93166	PRDM6	OMIM:617039
HP:0030680	Abnormal cardiovascular system morphology	3248	HPGD	OMIM:259100
HP:0030680	Abnormal cardiovascular system morphology	2077	ERF	OMIM:617180
HP:0030680	Abnormal cardiovascular system morphology	6748	SSR4	ORPHA:370927
HP:0030680	Abnormal cardiovascular system morphology	6812	STXBP1	ORPHA:495818
HP:0030680	Abnormal cardiovascular system morphology	132158	GLYCTK	OMIM:220120
HP:0030680	Abnormal cardiovascular system morphology	51021	MRPS16	OMIM:610498
HP:0030680	Abnormal cardiovascular system morphology	23137	SMC5	OMIM:620185
HP:0030680	Abnormal cardiovascular system morphology	2255	FGF10	ORPHA:2363
HP:0030680	Abnormal cardiovascular system morphology	8813	DPM1	OMIM:608799
HP:0030680	Abnormal cardiovascular system morphology	5331	PLCB3	OMIM:618961
HP:0030680	Abnormal cardiovascular system morphology	9757	KMT2B	OMIM:619934
HP:0030680	Abnormal cardiovascular system morphology	10486	CAP2	ORPHA:154
HP:0030680	Abnormal cardiovascular system morphology	10486	CAP2	OMIM:620462
HP:0030680	Abnormal cardiovascular system morphology	27063	ANKRD1	ORPHA:154
HP:0030680	Abnormal cardiovascular system morphology	439	GET3	ORPHA:154
HP:0030680	Abnormal cardiovascular system morphology	5664	PSEN2	ORPHA:154
HP:0030680	Abnormal cardiovascular system morphology	5664	PSEN2	OMIM:613697
HP:0030680	Abnormal cardiovascular system morphology	9529	BAG5	ORPHA:154
HP:0030680	Abnormal cardiovascular system morphology	9529	BAG5	OMIM:619747
HP:0030680	Abnormal cardiovascular system morphology	2274	FHL2	ORPHA:154
HP:0030680	Abnormal cardiovascular system morphology	9015	TAF1A	ORPHA:154
HP:0030680	Abnormal cardiovascular system morphology	7112	TMPO	ORPHA:154
HP:0030680	Abnormal cardiovascular system morphology	9464	HAND2	ORPHA:154
HP:0030680	Abnormal cardiovascular system morphology	1829	DSG2	ORPHA:154
HP:0030680	Abnormal cardiovascular system morphology	1829	DSG2	OMIM:612877
HP:0030680	Abnormal cardiovascular system morphology	3910	LAMA4	ORPHA:154
HP:0030680	Abnormal cardiovascular system morphology	3910	LAMA4	OMIM:615235
HP:0030680	Abnormal cardiovascular system morphology	79717	PPCS	ORPHA:154
HP:0030680	Abnormal cardiovascular system morphology	79717	PPCS	OMIM:618189
HP:0030680	Abnormal cardiovascular system morphology	282996	RBM20	ORPHA:154
HP:0030680	Abnormal cardiovascular system morphology	282996	RBM20	OMIM:613172
HP:0030680	Abnormal cardiovascular system morphology	57798	GATAD1	ORPHA:154
HP:0030680	Abnormal cardiovascular system morphology	57798	GATAD1	OMIM:614672
HP:0030680	Abnormal cardiovascular system morphology	2070	EYA4	ORPHA:217622
HP:0030680	Abnormal cardiovascular system morphology	2070	EYA4	OMIM:605362
HP:0030680	Abnormal cardiovascular system morphology	23417	MLYCD	OMIM:248360
HP:0030680	Abnormal cardiovascular system morphology	3909	LAMA3	ORPHA:79404
HP:0030680	Abnormal cardiovascular system morphology	3918	LAMC2	ORPHA:79404
HP:0030680	Abnormal cardiovascular system morphology	3914	LAMB3	ORPHA:79404
HP:0030680	Abnormal cardiovascular system morphology	4312	MMP1	ORPHA:79408
HP:0030680	Abnormal cardiovascular system morphology	1294	COL7A1	ORPHA:79408
HP:0030680	Abnormal cardiovascular system morphology	1294	COL7A1	ORPHA:89842
HP:0030680	Abnormal cardiovascular system morphology	7015	TERT	OMIM:613989
HP:0030680	Abnormal cardiovascular system morphology	58528	RRAGD	OMIM:620152
HP:0030680	Abnormal cardiovascular system morphology	79184	BRCC3	ORPHA:280679
HP:0030680	Abnormal cardiovascular system morphology	5777	PTPN6	ORPHA:3243
HP:0030680	Abnormal cardiovascular system morphology	7156	TOP3A	OMIM:618097
HP:0030680	Abnormal cardiovascular system morphology	51086	TNNI3K	OMIM:616117
HP:0030680	Abnormal cardiovascular system morphology	23230	VPS13A	ORPHA:2388
HP:0030680	Abnormal cardiovascular system morphology	845	CASQ2	OMIM:604772
HP:0030680	Abnormal cardiovascular system morphology	10345	TRDN	OMIM:604772
HP:0030680	Abnormal cardiovascular system morphology	6262	RYR2	OMIM:604772
HP:0030680	Abnormal cardiovascular system morphology	92667	MGME1	ORPHA:352447
HP:0030680	Abnormal cardiovascular system morphology	92667	MGME1	OMIM:615084
HP:0030680	Abnormal cardiovascular system morphology	2065	ERBB3	OMIM:607598
HP:0030680	Abnormal cardiovascular system morphology	55739	NAXD	OMIM:618321
HP:0030680	Abnormal cardiovascular system morphology	6533	SLC6A6	OMIM:145350
HP:0030680	Abnormal cardiovascular system morphology	55679	LIMS2	OMIM:616827
HP:0030680	Abnormal cardiovascular system morphology	54344	DPM3	ORPHA:263494
HP:0030680	Abnormal cardiovascular system morphology	54344	DPM3	OMIM:612937
HP:0030680	Abnormal cardiovascular system morphology	11232	POLG2	ORPHA:254892
HP:0030680	Abnormal cardiovascular system morphology	3155	HMGCL	ORPHA:20
HP:0030680	Abnormal cardiovascular system morphology	57122	NUP107	OMIM:618348
HP:0030680	Abnormal cardiovascular system morphology	57122	NUP107	OMIM:616730
HP:0030680	Abnormal cardiovascular system morphology	10102	TSFM	OMIM:610505
HP:0030680	Abnormal cardiovascular system morphology	1120	CHKB	OMIM:602541
HP:0030680	Abnormal cardiovascular system morphology	55182	RNF220	OMIM:619688
HP:0030680	Abnormal cardiovascular system morphology	27034	ACAD8	OMIM:611283
HP:0030680	Abnormal cardiovascular system morphology	27034	ACAD8	ORPHA:79159
HP:0030680	Abnormal cardiovascular system morphology	8884	SLC5A6	OMIM:619903
HP:0030680	Abnormal cardiovascular system morphology	326625	MMAB	OMIM:251110
HP:0030680	Abnormal cardiovascular system morphology	7518	XRCC4	OMIM:616541
HP:0030680	Abnormal cardiovascular system morphology	3759	KCNJ2	ORPHA:37553
HP:0030680	Abnormal cardiovascular system morphology	23630	KCNE5	ORPHA:86818
HP:0030680	Abnormal cardiovascular system morphology	2182	ACSL4	ORPHA:86818
HP:0030680	Abnormal cardiovascular system morphology	9949	AMMECR1	ORPHA:86818
HP:0030680	Abnormal cardiovascular system morphology	10269	ZMPSTE24	ORPHA:740
HP:0030680	Abnormal cardiovascular system morphology	8473	OGT	OMIM:300997
HP:0030680	Abnormal cardiovascular system morphology	6873	TAF2	OMIM:615599
HP:0030680	Abnormal cardiovascular system morphology	6873	TAF2	ORPHA:397951
HP:0030680	Abnormal cardiovascular system morphology	6650	CAPN15	OMIM:619318
HP:0030680	Abnormal cardiovascular system morphology	55764	IFT122	OMIM:218330
HP:0030680	Abnormal cardiovascular system morphology	1909	EDNRA	OMIM:616367
HP:0030680	Abnormal cardiovascular system morphology	79753	SNIP1	OMIM:614501
HP:0030680	Abnormal cardiovascular system morphology	54828	BCAS3	OMIM:619641
HP:0030680	Abnormal cardiovascular system morphology	2222	FDFT1	OMIM:618156
HP:0030680	Abnormal cardiovascular system morphology	9371	KIF3B	OMIM:618955
HP:0030680	Abnormal cardiovascular system morphology	6720	SREBF1	OMIM:158310
HP:0030680	Abnormal cardiovascular system morphology	1080	CFTR	OMIM:219700
HP:0030680	Abnormal cardiovascular system morphology	695	BTK	OMIM:300755
HP:0030680	Abnormal cardiovascular system morphology	5311	PKD2	OMIM:613095
HP:0030680	Abnormal cardiovascular system morphology	23241	PACS2	OMIM:618067
HP:0030680	Abnormal cardiovascular system morphology	55329	MNS1	OMIM:618948
HP:0030680	Abnormal cardiovascular system morphology	6091	ROBO1	OMIM:620305
HP:0030680	Abnormal cardiovascular system morphology	146845	CFAP52	OMIM:619607
HP:0030680	Abnormal cardiovascular system morphology	388389	DNAAF19	OMIM:614679
HP:0030680	Abnormal cardiovascular system morphology	78987	CRELD1	OMIM:606217
HP:0030680	Abnormal cardiovascular system morphology	80781	COL18A1	ORPHA:1571
HP:0030680	Abnormal cardiovascular system morphology	375	ARF1	ORPHA:98892
HP:0030680	Abnormal cardiovascular system morphology	4131	MAP1B	ORPHA:98892
HP:0030680	Abnormal cardiovascular system morphology	23327	NEDD4L	ORPHA:98892
HP:0030680	Abnormal cardiovascular system morphology	160418	TMTC3	ORPHA:98892
HP:0030680	Abnormal cardiovascular system morphology	10564	ARFGEF2	ORPHA:98892
HP:0030680	Abnormal cardiovascular system morphology	55780	ERMARD	ORPHA:98892
HP:0030680	Abnormal cardiovascular system morphology	274	BIN1	ORPHA:169186
HP:0030680	Abnormal cardiovascular system morphology	10290	SPEG	ORPHA:169186
HP:0030680	Abnormal cardiovascular system morphology	6261	RYR1	ORPHA:169186
HP:0030680	Abnormal cardiovascular system morphology	7273	TTN	ORPHA:169186
HP:0030680	Abnormal cardiovascular system morphology	6609	SMPD1	ORPHA:77293
HP:0030680	Abnormal cardiovascular system morphology	2588	GALNS	OMIM:253000
HP:0030680	Abnormal cardiovascular system morphology	2990	GUSB	OMIM:253220
HP:0030680	Abnormal cardiovascular system morphology	2720	GLB1	OMIM:230500
HP:0030680	Abnormal cardiovascular system morphology	3593	IL12B	ORPHA:3287
HP:0030680	Abnormal cardiovascular system morphology	6945	MLX	ORPHA:3287
HP:0030680	Abnormal cardiovascular system morphology	3425	IDUA	ORPHA:93473
HP:0030680	Abnormal cardiovascular system morphology	3425	IDUA	ORPHA:93476
HP:0030680	Abnormal cardiovascular system morphology	1776	DNASE1L3	ORPHA:36412
HP:0030680	Abnormal cardiovascular system morphology	3081	HGD	ORPHA:56
HP:0030680	Abnormal cardiovascular system morphology	1278	COL1A2	ORPHA:230851
HP:0030680	Abnormal cardiovascular system morphology	11231	SEC63	ORPHA:2924
HP:0030680	Abnormal cardiovascular system morphology	5589	PRKCSH	ORPHA:2924
HP:0030680	Abnormal cardiovascular system morphology	7528	YY1	ORPHA:506358
HP:0030680	Abnormal cardiovascular system morphology	7528	YY1	OMIM:617557
HP:0030680	Abnormal cardiovascular system morphology	54892	NCAPG2	OMIM:618460
HP:0030680	Abnormal cardiovascular system morphology	9578	CDC42BPB	OMIM:619841
HP:0030680	Abnormal cardiovascular system morphology	29998	BICRA	OMIM:619325
HP:0030680	Abnormal cardiovascular system morphology	51506	UFC1	OMIM:618076
HP:0030680	Abnormal cardiovascular system morphology	23291	FBXW11	OMIM:618914
HP:0030680	Abnormal cardiovascular system morphology	4001	LMNB1	OMIM:619179
HP:0030680	Abnormal cardiovascular system morphology	51434	ANAPC7	OMIM:619699
HP:0030680	Abnormal cardiovascular system morphology	51008	ASCC1	OMIM:616867
HP:0030680	Abnormal cardiovascular system morphology	23028	KDM1A	ORPHA:477993
HP:0030680	Abnormal cardiovascular system morphology	1301	COL11A1	OMIM:228520
HP:0030680	Abnormal cardiovascular system morphology	6772	STAT1	ORPHA:391487
HP:0030680	Abnormal cardiovascular system morphology	1763	DNA2	OMIM:615156
HP:0030680	Abnormal cardiovascular system morphology	91461	PKDCC	OMIM:618821
HP:0030680	Abnormal cardiovascular system morphology	6789	STK4	OMIM:614868
HP:0030680	Abnormal cardiovascular system morphology	10681	GNB5	OMIM:617182
HP:0030680	Abnormal cardiovascular system morphology	10681	GNB5	ORPHA:542306
HP:0030680	Abnormal cardiovascular system morphology	9739	SETD1A	OMIM:618832
HP:0030680	Abnormal cardiovascular system morphology	100506658	OCLN	OMIM:251290
HP:0030680	Abnormal cardiovascular system morphology	79971	WLS	OMIM:619648
HP:0030680	Abnormal cardiovascular system morphology	89970	RSPRY1	ORPHA:457395
HP:0030680	Abnormal cardiovascular system morphology	57479	PRR12	OMIM:619539
HP:0030680	Abnormal cardiovascular system morphology	85459	CEP295	OMIM:620767
HP:0030680	Abnormal cardiovascular system morphology	6445	SGCG	ORPHA:353
HP:0030680	Abnormal cardiovascular system morphology	6445	SGCG	OMIM:253700
HP:0030680	Abnormal cardiovascular system morphology	79572	ATP13A3	OMIM:265400
HP:0030680	Abnormal cardiovascular system morphology	21	ABCA3	ORPHA:217563
HP:0030680	Abnormal cardiovascular system morphology	6439	SFTPB	ORPHA:217563
HP:0030680	Abnormal cardiovascular system morphology	8604	SLC25A12	OMIM:612949
HP:0030680	Abnormal cardiovascular system morphology	659	BMPR2	OMIM:178600
HP:0030680	Abnormal cardiovascular system morphology	8292	COLQ	ORPHA:98915
HP:0030680	Abnormal cardiovascular system morphology	3913	LAMB2	ORPHA:98915
HP:0030680	Abnormal cardiovascular system morphology	6448	SGSH	OMIM:252900
HP:0030680	Abnormal cardiovascular system morphology	138050	HGSNAT	OMIM:252930
HP:0030680	Abnormal cardiovascular system morphology	859	CAV3	OMIM:192600
HP:0030680	Abnormal cardiovascular system morphology	85366	MYLK2	OMIM:192600
HP:0030680	Abnormal cardiovascular system morphology	2799	GNS	OMIM:252940
HP:0030680	Abnormal cardiovascular system morphology	3192	HNRNPU	ORPHA:238769
HP:0030680	Abnormal cardiovascular system morphology	894	CCND2	ORPHA:83473
HP:0030680	Abnormal cardiovascular system morphology	5296	PIK3R2	ORPHA:83473
HP:0030680	Abnormal cardiovascular system morphology	10000	AKT3	ORPHA:83473
HP:0030680	Abnormal cardiovascular system morphology	64840	PORCN	ORPHA:2092
HP:0030680	Abnormal cardiovascular system morphology	23556	PIGN	ORPHA:2059
HP:0030680	Abnormal cardiovascular system morphology	25885	POLR1A	ORPHA:1200
HP:0030680	Abnormal cardiovascular system morphology	10907	TXNL4A	ORPHA:1200
HP:0030680	Abnormal cardiovascular system morphology	145173	B3GLCT	ORPHA:709
HP:0030680	Abnormal cardiovascular system morphology	7473	WNT3	ORPHA:3301
HP:0030680	Abnormal cardiovascular system morphology	340419	RSPO2	ORPHA:3301
HP:0030680	Abnormal cardiovascular system morphology	9496	TBX4	ORPHA:3301
HP:0030680	Abnormal cardiovascular system morphology	1654	DDX3X	ORPHA:3338
HP:0030680	Abnormal cardiovascular system morphology	92002	CCNQ	ORPHA:140952
HP:0030680	Abnormal cardiovascular system morphology	55784	MCTP2	ORPHA:1596
HP:0030680	Abnormal cardiovascular system morphology	55690	PACS1	OMIM:615009
HP:0030680	Abnormal cardiovascular system morphology	1482	NKX2-5	ORPHA:1479
HP:0030680	Abnormal cardiovascular system morphology	6023	RMRP	ORPHA:175
HP:0030680	Abnormal cardiovascular system morphology	50814	NSDHL	OMIM:308050
HP:0030680	Abnormal cardiovascular system morphology	9939	RBM8A	ORPHA:3320
HP:0030680	Abnormal cardiovascular system morphology	672	BRCA1	ORPHA:84
HP:0030680	Abnormal cardiovascular system morphology	10459	MAD2L2	ORPHA:84
HP:0030680	Abnormal cardiovascular system morphology	7516	XRCC2	ORPHA:84
HP:0030680	Abnormal cardiovascular system morphology	29089	UBE2T	ORPHA:84
HP:0030680	Abnormal cardiovascular system morphology	675	BRCA2	ORPHA:84
HP:0030680	Abnormal cardiovascular system morphology	55120	FANCL	ORPHA:84
HP:0030680	Abnormal cardiovascular system morphology	2176	FANCC	ORPHA:84
HP:0030680	Abnormal cardiovascular system morphology	2188	FANCF	ORPHA:84
HP:0030680	Abnormal cardiovascular system morphology	2189	FANCG	ORPHA:84
HP:0030680	Abnormal cardiovascular system morphology	5888	RAD51	ORPHA:84
HP:0030680	Abnormal cardiovascular system morphology	55159	RFWD3	ORPHA:84
HP:0030680	Abnormal cardiovascular system morphology	83990	BRIP1	ORPHA:84
HP:0030680	Abnormal cardiovascular system morphology	57697	FANCM	ORPHA:84
HP:0030680	Abnormal cardiovascular system morphology	79728	PALB2	ORPHA:84
HP:0030680	Abnormal cardiovascular system morphology	84464	SLX4	ORPHA:84
HP:0030680	Abnormal cardiovascular system morphology	2072	ERCC4	ORPHA:84
HP:0030680	Abnormal cardiovascular system morphology	118856	MMP21	OMIM:616749
HP:0030680	Abnormal cardiovascular system morphology	7080	NKX2-1	ORPHA:209905
HP:0030680	Abnormal cardiovascular system morphology	54539	NDUFB11	ORPHA:2556
HP:0030680	Abnormal cardiovascular system morphology	1349	COX7B	ORPHA:2556
HP:0030680	Abnormal cardiovascular system morphology	3052	HCCS	ORPHA:2556
HP:0030680	Abnormal cardiovascular system morphology	1760	DMPK	ORPHA:589821
HP:0030680	Abnormal cardiovascular system morphology	4352	MPL	ORPHA:3319
HP:0030680	Abnormal cardiovascular system morphology	7066	THPO	ORPHA:3319
HP:0030680	Abnormal cardiovascular system morphology	389827	MYMK	OMIM:254940
HP:0030680	Abnormal cardiovascular system morphology	27152	INTU	OMIM:617925
HP:0030680	Abnormal cardiovascular system morphology	63036	CELA2A	OMIM:618620
HP:0030680	Abnormal cardiovascular system morphology	336	APOA2	OMIM:143890
HP:0030680	Abnormal cardiovascular system morphology	2053	EPHX2	OMIM:143890
HP:0030680	Abnormal cardiovascular system morphology	10842	PPP1R17	OMIM:143890
HP:0030680	Abnormal cardiovascular system morphology	2690	GHR	OMIM:143890
HP:0030680	Abnormal cardiovascular system morphology	2099	ESR1	ORPHA:785
HP:0030680	Abnormal cardiovascular system morphology	79903	NAA60	OMIM:620786
HP:0030680	Abnormal cardiovascular system morphology	7707	ZNF148	OMIM:617260
HP:0030680	Abnormal cardiovascular system morphology	146862	UNC45B	OMIM:619178
HP:0030680	Abnormal cardiovascular system morphology	5745	PTH1R	ORPHA:50945
HP:0030680	Abnormal cardiovascular system morphology	55644	OSGEP	OMIM:617729
HP:0030680	Abnormal cardiovascular system morphology	127833	SYT2	OMIM:619461
HP:0030680	Abnormal cardiovascular system morphology	29081	METTL5	OMIM:618665
HP:0030680	Abnormal cardiovascular system morphology	132	ADK	OMIM:614300
HP:0030680	Abnormal cardiovascular system morphology	8364	H4C3	OMIM:619758
HP:0030680	Abnormal cardiovascular system morphology	256297	PTF1A	OMIM:609069
HP:0030680	Abnormal cardiovascular system morphology	79759	ZNF668	OMIM:620194
HP:0030680	Abnormal cardiovascular system morphology	80055	PGAP1	OMIM:615802
HP:0030680	Abnormal cardiovascular system morphology	471	ATIC	OMIM:608688
HP:0030680	Abnormal cardiovascular system morphology	11274	USP18	OMIM:617397
HP:0030680	Abnormal cardiovascular system morphology	10079	ATP9A	OMIM:620242
HP:0030680	Abnormal cardiovascular system morphology	1974	EIF4A2	OMIM:620455
HP:0030680	Abnormal cardiovascular system morphology	5054	SERPINE1	ORPHA:465
HP:0030680	Abnormal cardiovascular system morphology	7840	ALMS1	ORPHA:64
HP:0030680	Abnormal cardiovascular system morphology	27068	PPA2	OMIM:617223
HP:0030680	Abnormal cardiovascular system morphology	27068	PPA2	OMIM:617222
HP:0030680	Abnormal cardiovascular system morphology	10848	PPP1R13L	OMIM:620519
HP:0030680	Abnormal cardiovascular system morphology	57158	JPH2	OMIM:613873
HP:0030680	Abnormal cardiovascular system morphology	2218	FKTN	OMIM:253800
HP:0030680	Abnormal cardiovascular system morphology	5396	PRRX1	ORPHA:990
HP:0030680	Abnormal cardiovascular system morphology	5396	PRRX1	OMIM:202650
HP:0030680	Abnormal cardiovascular system morphology	23568	ARL2BP	OMIM:615434
HP:0030680	Abnormal cardiovascular system morphology	4487	MSX1	ORPHA:199302
HP:0030680	Abnormal cardiovascular system morphology	5818	NECTIN1	ORPHA:199302
HP:0030680	Abnormal cardiovascular system morphology	8626	TP63	ORPHA:199302
HP:0030680	Abnormal cardiovascular system morphology	3664	IRF6	ORPHA:199302
HP:0030680	Abnormal cardiovascular system morphology	54014	BRWD1	OMIM:620438
HP:0030680	Abnormal cardiovascular system morphology	25790	CFAP45	OMIM:619608
HP:0030680	Abnormal cardiovascular system morphology	10126	DNAL4	OMIM:616059
HP:0030680	Abnormal cardiovascular system morphology	25914	RTTN	OMIM:614833
HP:0030680	Abnormal cardiovascular system morphology	284086	NEK8	OMIM:615415
HP:0030680	Abnormal cardiovascular system morphology	203286	ANKS6	OMIM:615382
HP:0030680	Abnormal cardiovascular system morphology	27130	INVS	OMIM:602088
HP:0030680	Abnormal cardiovascular system morphology	83483	PLVAP	OMIM:618183
HP:0030680	Abnormal cardiovascular system morphology	55388	MCM10	OMIM:619313
HP:0030680	Abnormal cardiovascular system morphology	3702	ITK	OMIM:613011
HP:0030680	Abnormal cardiovascular system morphology	9508	ADAMTS3	ORPHA:2136
HP:0030680	Abnormal cardiovascular system morphology	147372	CCBE1	ORPHA:2136
HP:0030680	Abnormal cardiovascular system morphology	147372	CCBE1	OMIM:235510
HP:0030680	Abnormal cardiovascular system morphology	5784	PTPN14	OMIM:613611
HP:0030680	Abnormal cardiovascular system morphology	6696	SPP1	ORPHA:93552
HP:0030680	Abnormal cardiovascular system morphology	6303	SAT1	ORPHA:93552
HP:0030680	Abnormal cardiovascular system morphology	3654	IRAK1	ORPHA:93552
HP:0030680	Abnormal cardiovascular system morphology	51611	DPH5	OMIM:620070
HP:0030680	Abnormal cardiovascular system morphology	84162	BLTP1	OMIM:617822
HP:0030680	Abnormal cardiovascular system morphology	745	MYRF	OMIM:618280
HP:0030680	Abnormal cardiovascular system morphology	3123	HLA-DRB1	OMIM:181000
HP:0030680	Abnormal cardiovascular system morphology	1130	LYST	ORPHA:167
HP:0030680	Abnormal cardiovascular system morphology	440275	EIF2AK4	ORPHA:199241
HP:0030680	Abnormal cardiovascular system morphology	10203	CALCRL	OMIM:618773
HP:0030680	Abnormal cardiovascular system morphology	7386	UQCRFS1	OMIM:618775
HP:0030680	Abnormal cardiovascular system morphology	64072	CDH23	ORPHA:91347
HP:0030680	Abnormal cardiovascular system morphology	165	AEBP1	ORPHA:536532
HP:0030680	Abnormal cardiovascular system morphology	1188	CLCNKB	ORPHA:358
HP:0030680	Abnormal cardiovascular system morphology	6559	SLC12A3	ORPHA:358
HP:0030680	Abnormal cardiovascular system morphology	6729	SRP54	OMIM:260400
HP:0030680	Abnormal cardiovascular system morphology	26191	PTPN22	ORPHA:397
HP:0030680	Abnormal cardiovascular system morphology	26191	PTPN22	ORPHA:900
HP:0030680	Abnormal cardiovascular system morphology	26191	PTPN22	OMIM:152700
HP:0030680	Abnormal cardiovascular system morphology	8974	P4HA2	ORPHA:397
HP:0030680	Abnormal cardiovascular system morphology	144811	LACC1	ORPHA:85414
HP:0030680	Abnormal cardiovascular system morphology	4282	MIF	ORPHA:85414
HP:0030680	Abnormal cardiovascular system morphology	3569	IL6	ORPHA:85414
HP:0030680	Abnormal cardiovascular system morphology	3932	LCK	OMIM:615758
HP:0030680	Abnormal cardiovascular system morphology	1493	CTLA4	ORPHA:900
HP:0030680	Abnormal cardiovascular system morphology	1493	CTLA4	OMIM:152700
HP:0030680	Abnormal cardiovascular system morphology	3115	HLA-DPB1	ORPHA:900
HP:0030680	Abnormal cardiovascular system morphology	5657	PRTN3	ORPHA:900
HP:0030680	Abnormal cardiovascular system morphology	3113	HLA-DPA1	ORPHA:900
HP:0030680	Abnormal cardiovascular system morphology	10216	PRG4	ORPHA:2848
HP:0030680	Abnormal cardiovascular system morphology	139818	DOCK11	OMIM:301109
HP:0030680	Abnormal cardiovascular system morphology	64127	NOD2	ORPHA:90340
HP:0030680	Abnormal cardiovascular system morphology	64127	NOD2	OMIM:186580
HP:0030680	Abnormal cardiovascular system morphology	64127	NOD2	OMIM:617321
HP:0030680	Abnormal cardiovascular system morphology	2212	FCGR2A	OMIM:152700
HP:0030680	Abnormal cardiovascular system morphology	2213	FCGR2B	OMIM:152700
HP:0030680	Abnormal cardiovascular system morphology	1773	DNASE1	OMIM:152700
HP:0030680	Abnormal cardiovascular system morphology	3039	HBA1	ORPHA:163596
HP:0030680	Abnormal cardiovascular system morphology	3040	HBA2	ORPHA:163596
HP:0030680	Abnormal cardiovascular system morphology	6901	TAFAZZIN	ORPHA:111
HP:0030680	Abnormal cardiovascular system morphology	6901	TAFAZZIN	OMIM:302060
HP:0030680	Abnormal cardiovascular system morphology	2702	GJA5	OMIM:108770
HP:0030680	Abnormal cardiovascular system morphology	8048	CSRP3	OMIM:607482
HP:0030680	Abnormal cardiovascular system morphology	9158	FIBP	ORPHA:500095
HP:0030680	Abnormal cardiovascular system morphology	19	ABCA1	OMIM:205400
HP:0030680	Abnormal cardiovascular system morphology	19	ABCA1	ORPHA:31150
HP:0030680	Abnormal cardiovascular system morphology	51343	FZR1	OMIM:620145
HP:0030680	Abnormal cardiovascular system morphology	10159	ATP6AP2	ORPHA:93952
HP:0030680	Abnormal cardiovascular system morphology	6840	SVIL	OMIM:619040
HP:0030680	Abnormal cardiovascular system morphology	10021	HCN4	OMIM:163800
HP:0030680	Abnormal cardiovascular system morphology	51218	GLRX5	ORPHA:401866
HP:0030680	Abnormal cardiovascular system morphology	83715	ESPN	OMIM:618632
HP:0030680	Abnormal cardiovascular system morphology	10229	COQ7	OMIM:616733
HP:0030680	Abnormal cardiovascular system morphology	54931	TRMT10C	OMIM:616974
HP:0030680	Abnormal cardiovascular system morphology	6868	ADAM17	ORPHA:294023
HP:0030680	Abnormal cardiovascular system morphology	1956	EGFR	ORPHA:294023
HP:0030680	Abnormal cardiovascular system morphology	4511	MT-TC	OMIM:540000
HP:0030680	Abnormal cardiovascular system morphology	153642	ARSK	OMIM:619698
HP:0030680	Abnormal cardiovascular system morphology	79140	CCDC28B	OMIM:209900
HP:0030680	Abnormal cardiovascular system morphology	27010	TPK1	OMIM:614458
HP:0030680	Abnormal cardiovascular system morphology	51241	COX16	OMIM:619355
HP:0030680	Abnormal cardiovascular system morphology	57017	COQ9	OMIM:614654
HP:0030680	Abnormal cardiovascular system morphology	57592	ZNF687	OMIM:616833
HP:0030680	Abnormal cardiovascular system morphology	6444	SGCD	OMIM:601287
HP:0030680	Abnormal cardiovascular system morphology	286053	NSMCE2	OMIM:617253
HP:0030680	Abnormal cardiovascular system morphology	6341	SCO1	OMIM:619048
HP:0030680	Abnormal cardiovascular system morphology	776	CACNA1D	ORPHA:369929
HP:0030680	Abnormal cardiovascular system morphology	83550	GPR101	OMIM:300942
HP:0030680	Abnormal cardiovascular system morphology	5908	RAP1B	OMIM:620654
HP:0030680	Abnormal cardiovascular system morphology	55593	OTUD5	OMIM:301056
HP:0030680	Abnormal cardiovascular system morphology	7319	UBE2A	ORPHA:163956
HP:0030680	Abnormal cardiovascular system morphology	1062	CENPE	OMIM:616051
HP:0030680	Abnormal cardiovascular system morphology	2038	EPB42	ORPHA:822
HP:0030680	Abnormal cardiovascular system morphology	6521	SLC4A1	ORPHA:822
HP:0030680	Abnormal cardiovascular system morphology	6710	SPTB	ORPHA:822
HP:0030680	Abnormal cardiovascular system morphology	6708	SPTA1	ORPHA:822
HP:0030680	Abnormal cardiovascular system morphology	2657	GDF1	OMIM:208530
HP:0030680	Abnormal cardiovascular system morphology	2657	GDF1	OMIM:613854
HP:0030680	Abnormal cardiovascular system morphology	100128908	CIROP	OMIM:619702
HP:0030680	Abnormal cardiovascular system morphology	50628	GEMIN4	OMIM:617913
HP:0030680	Abnormal cardiovascular system morphology	5456	POU3F4	ORPHA:1435
HP:0030680	Abnormal cardiovascular system morphology	1134	CHRNA1	OMIM:253290
HP:0030680	Abnormal cardiovascular system morphology	1144	CHRND	OMIM:253290
HP:0030680	Abnormal cardiovascular system morphology	3674	ITGA2B	OMIM:273800
HP:0030680	Abnormal cardiovascular system morphology	3674	ITGA2B	ORPHA:853
HP:0030680	Abnormal cardiovascular system morphology	1798	DPAGT1	ORPHA:86309
HP:0030680	Abnormal cardiovascular system morphology	54809	SAMD9	OMIM:617053
HP:0030680	Abnormal cardiovascular system morphology	2155	F7	OMIM:227500
HP:0030680	Abnormal cardiovascular system morphology	2155	F7	ORPHA:327
HP:0030680	Abnormal cardiovascular system morphology	5345	SERPINF2	ORPHA:79
HP:0030680	Abnormal cardiovascular system morphology	249	ALPL	OMIM:241500
HP:0030680	Abnormal cardiovascular system morphology	3998	LMAN1	ORPHA:35909
HP:0030680	Abnormal cardiovascular system morphology	90411	MCFD2	ORPHA:35909
HP:0030680	Abnormal cardiovascular system morphology	2162	F13A1	OMIM:613225
HP:0030680	Abnormal cardiovascular system morphology	2811	GP1BA	ORPHA:853
HP:0030680	Abnormal cardiovascular system morphology	3673	ITGA2	ORPHA:853
HP:0030680	Abnormal cardiovascular system morphology	135228	CD109	ORPHA:853
HP:0030680	Abnormal cardiovascular system morphology	3690	ITGB3	ORPHA:853
HP:0030680	Abnormal cardiovascular system morphology	1584	CYP11B1	ORPHA:90795
HP:0030680	Abnormal cardiovascular system morphology	1584	CYP11B1	ORPHA:403
HP:0030680	Abnormal cardiovascular system morphology	2159	F10	OMIM:227600
HP:0030680	Abnormal cardiovascular system morphology	889	KRIT1	OMIM:116860
HP:0030680	Abnormal cardiovascular system morphology	1284	COL4A2	OMIM:614483
HP:0030680	Abnormal cardiovascular system morphology	2157	F8	ORPHA:169805
HP:0030680	Abnormal cardiovascular system morphology	2157	F8	ORPHA:169802
HP:0030680	Abnormal cardiovascular system morphology	340665	CYP26C1	ORPHA:398189
HP:0030680	Abnormal cardiovascular system morphology	2624	GATA2	ORPHA:228423
HP:0030680	Abnormal cardiovascular system morphology	1181	CLCN2	ORPHA:404
HP:0030680	Abnormal cardiovascular system morphology	1585	CYP11B2	ORPHA:403
HP:0030680	Abnormal cardiovascular system morphology	3762	KCNJ5	ORPHA:251274
HP:0030680	Abnormal cardiovascular system morphology	7049	TGFBR3	ORPHA:231160
HP:0030680	Abnormal cardiovascular system morphology	83854	ANGPTL6	ORPHA:231160
HP:0030680	Abnormal cardiovascular system morphology	60	ACTB	ORPHA:2995
HP:0030680	Abnormal cardiovascular system morphology	5621	PRNP	ORPHA:282166
HP:0030680	Abnormal cardiovascular system morphology	4702	NDUFA8	OMIM:619272
HP:0030680	Abnormal cardiovascular system morphology	3980	LIG3	OMIM:619780
HP:0030680	Abnormal cardiovascular system morphology	6786	STIM1	OMIM:185070
HP:0030680	Abnormal cardiovascular system morphology	91869	RFT1	ORPHA:244310
HP:0030680	Abnormal cardiovascular system morphology	23600	AMACR	ORPHA:79095
HP:0030680	Abnormal cardiovascular system morphology	129607	CMPK2	OMIM:621018
HP:0030680	Abnormal cardiovascular system morphology	6575	SLC20A2	OMIM:213600
HP:0030680	Abnormal cardiovascular system morphology	55072	RNF31	OMIM:620632
HP:0030680	Abnormal cardiovascular system morphology	1604	CD55	OMIM:226300
HP:0030680	Abnormal cardiovascular system morphology	80169	CTC1	OMIM:612199
HP:0030680	Abnormal cardiovascular system morphology	538	ATP7A	ORPHA:198
HP:0030680	Abnormal cardiovascular system morphology	538	ATP7A	ORPHA:565
HP:0030680	Abnormal cardiovascular system morphology	57728	WDR19	OMIM:616307
HP:0030680	Abnormal cardiovascular system morphology	3110	MNX1	OMIM:176450
HP:0030680	Abnormal cardiovascular system morphology	5351	PLOD1	ORPHA:1900
HP:0030680	Abnormal cardiovascular system morphology	284119	CAVIN1	OMIM:613327
HP:0030680	Abnormal cardiovascular system morphology	3798	KIF5A	ORPHA:100991
HP:0030680	Abnormal cardiovascular system morphology	3931	LCAT	ORPHA:79292
HP:0030680	Abnormal cardiovascular system morphology	2324	FLT4	ORPHA:79452
HP:0030680	Abnormal cardiovascular system morphology	285	ANGPT2	ORPHA:79452
HP:0030680	Abnormal cardiovascular system morphology	57165	GJC2	ORPHA:79452
HP:0030680	Abnormal cardiovascular system morphology	11146	GLMN	ORPHA:83454
HP:0030680	Abnormal cardiovascular system morphology	356	FASLG	ORPHA:3261
HP:0030680	Abnormal cardiovascular system morphology	356	FASLG	OMIM:601859
HP:0030680	Abnormal cardiovascular system morphology	843	CASP10	ORPHA:3261
HP:0030680	Abnormal cardiovascular system morphology	843	CASP10	OMIM:603909
HP:0030680	Abnormal cardiovascular system morphology	90268	OTULIN	OMIM:617099
HP:0030680	Abnormal cardiovascular system morphology	114548	NLRP3	OMIM:191900
HP:0030680	Abnormal cardiovascular system morphology	114548	NLRP3	ORPHA:575
HP:0030680	Abnormal cardiovascular system morphology	7454	WAS	ORPHA:906
HP:0030680	Abnormal cardiovascular system morphology	7456	WIPF1	ORPHA:906
HP:0030680	Abnormal cardiovascular system morphology	3426	CFI	OMIM:610984
HP:0030680	Abnormal cardiovascular system morphology	4598	MVK	ORPHA:343
HP:0030680	Abnormal cardiovascular system morphology	9051	PSTPIP1	OMIM:601979
HP:0030680	Abnormal cardiovascular system morphology	4068	SH2D1A	OMIM:308240
HP:0030680	Abnormal cardiovascular system morphology	331	XIAP	OMIM:308240
HP:0030680	Abnormal cardiovascular system morphology	6335	SCN9A	ORPHA:90026
HP:0030680	Abnormal cardiovascular system morphology	11280	SCN11A	ORPHA:90026
HP:0030680	Abnormal cardiovascular system morphology	6336	SCN10A	ORPHA:90026
HP:0030680	Abnormal cardiovascular system morphology	10095	ARPC1B	OMIM:617718
HP:0030680	Abnormal cardiovascular system morphology	6583	SLC22A4	OMIM:180300
HP:0030680	Abnormal cardiovascular system morphology	4261	CIITA	OMIM:180300
HP:0030680	Abnormal cardiovascular system morphology	51744	CD244	OMIM:180300
HP:0030680	Abnormal cardiovascular system morphology	4795	NFKBIL1	OMIM:180300
HP:0030680	Abnormal cardiovascular system morphology	29110	TBK1	OMIM:620880
HP:0030680	Abnormal cardiovascular system morphology	4615	MYD88	ORPHA:33226
HP:0030680	Abnormal cardiovascular system morphology	23495	TNFRSF13B	ORPHA:1572
HP:0030680	Abnormal cardiovascular system morphology	4790	NFKB1	ORPHA:1572
HP:0030680	Abnormal cardiovascular system morphology	4791	NFKB2	ORPHA:1572
HP:0030680	Abnormal cardiovascular system morphology	115650	TNFRSF13C	ORPHA:1572
HP:0030680	Abnormal cardiovascular system morphology	1380	CR2	ORPHA:1572
HP:0030680	Abnormal cardiovascular system morphology	8742	TNFSF12	ORPHA:1572
HP:0030680	Abnormal cardiovascular system morphology	930	CD19	ORPHA:1572
HP:0030680	Abnormal cardiovascular system morphology	29851	ICOS	ORPHA:1572
HP:0030680	Abnormal cardiovascular system morphology	931	MS4A1	ORPHA:1572
HP:0030680	Abnormal cardiovascular system morphology	975	CD81	ORPHA:1572
HP:0030680	Abnormal cardiovascular system morphology	359948	IRF2BP2	ORPHA:1572
HP:0030680	Abnormal cardiovascular system morphology	54	ACP5	ORPHA:1855
HP:0030680	Abnormal cardiovascular system morphology	2073	ERCC5	ORPHA:220295
HP:0030680	Abnormal cardiovascular system morphology	847	CAT	ORPHA:926
HP:0030680	Abnormal cardiovascular system morphology	3988	LIPA	ORPHA:75234
HP:0030680	Abnormal cardiovascular system morphology	6309	SC5D	OMIM:607330
HP:0030680	Abnormal cardiovascular system morphology	10577	NPC2	OMIM:607625
HP:0030680	Abnormal cardiovascular system morphology	5294	PIK3CG	OMIM:619802
HP:0030680	Abnormal cardiovascular system morphology	1439	CSF2RB	ORPHA:264675
HP:0030680	Abnormal cardiovascular system morphology	1438	CSF2RA	ORPHA:264675
HP:0030680	Abnormal cardiovascular system morphology	4864	NPC1	OMIM:257220
HP:0030680	Abnormal cardiovascular system morphology	5538	PPT1	OMIM:256730
HP:0030680	Abnormal cardiovascular system morphology	5654	HTRA1	ORPHA:199354
HP:0030680	Abnormal cardiovascular system morphology	54982	CLN6	OMIM:204300
HP:0030680	Abnormal cardiovascular system morphology	80331	DNAJC5	OMIM:162350
HP:0030680	Abnormal cardiovascular system morphology	1509	CTSD	OMIM:610127
HP:0030680	Abnormal cardiovascular system morphology	2055	CLN8	ORPHA:1947
HP:0030680	Abnormal cardiovascular system morphology	4854	NOTCH3	OMIM:125310
HP:0030680	Abnormal cardiovascular system morphology	84818	IL17RC	ORPHA:1334
HP:0030680	Abnormal cardiovascular system morphology	64581	CLEC7A	ORPHA:1334
HP:0030680	Abnormal cardiovascular system morphology	23765	IL17RA	ORPHA:1334
HP:0030680	Abnormal cardiovascular system morphology	10758	TRAF3IP2	ORPHA:1334
HP:0030680	Abnormal cardiovascular system morphology	112744	IL17F	ORPHA:1334
HP:0030680	Abnormal cardiovascular system morphology	23586	RIGI	OMIM:616298
HP:0030680	Abnormal cardiovascular system morphology	10568	SLC34A2	ORPHA:60025
HP:0030680	Abnormal cardiovascular system morphology	10651	MTX2	OMIM:619127
HP:0030680	Abnormal cardiovascular system morphology	2464	FRA16E	OMIM:136570
HP:0030680	Abnormal cardiovascular system morphology	1024	CDK8	OMIM:618748
HP:0030680	Abnormal cardiovascular system morphology	9681	DEPDC5	OMIM:620504
HP:0030680	Abnormal cardiovascular system morphology	8405	SPOP	OMIM:618829
HP:0030680	Abnormal cardiovascular system morphology	1837	DTNA	OMIM:604169
HP:0030680	Abnormal cardiovascular system morphology	23498	HAAO	OMIM:617660
HP:0030680	Abnormal cardiovascular system morphology	3021	H3-3B	OMIM:619721
HP:0030680	Abnormal cardiovascular system morphology	8942	KYNU	OMIM:617661
HP:0030680	Abnormal cardiovascular system morphology	140628	GATA5	ORPHA:402075
HP:0030680	Abnormal cardiovascular system morphology	4091	SMAD6	ORPHA:402075
HP:0030680	Abnormal cardiovascular system morphology	55191	NADSYN1	OMIM:618845
HP:0030680	Abnormal cardiovascular system morphology	51117	COQ4	OMIM:616276
HP:0030680	Abnormal cardiovascular system morphology	168507	PKD1L1	OMIM:617205
HP:0030680	Abnormal cardiovascular system morphology	220136	CFAP53	OMIM:614779
HP:0030680	Abnormal cardiovascular system morphology	2313	FLI1	ORPHA:2308
HP:0030680	Abnormal cardiovascular system morphology	164781	DAW1	OMIM:620570
HP:0030680	Abnormal cardiovascular system morphology	1272	CNTN1	OMIM:612540
HP:0030680	Abnormal cardiovascular system morphology	64919	BCL11B	OMIM:617237
HP:0030680	Abnormal cardiovascular system morphology	116519	APOA5	OMIM:145750
HP:0030680	Abnormal cardiovascular system morphology	4023	LPL	OMIM:238600
HP:0030680	Abnormal cardiovascular system morphology	3053	SERPIND1	OMIM:612356
HP:0030680	Abnormal cardiovascular system morphology	11117	EMILIN1	OMIM:620080
HP:0030680	Abnormal cardiovascular system morphology	1161	ERCC8	ORPHA:90324
HP:0030680	Abnormal cardiovascular system morphology	2074	ERCC6	ORPHA:90324
HP:0030680	Abnormal cardiovascular system morphology	2591	GALNT3	OMIM:211900
HP:0030680	Abnormal cardiovascular system morphology	113246	C12orf57	OMIM:218340
HP:0030680	Abnormal cardiovascular system morphology	6874	TAF4	OMIM:620450
HP:0030680	Abnormal cardiovascular system morphology	10056	FARSB	OMIM:613658
HP:0030680	Abnormal cardiovascular system morphology	4796	TONSL	ORPHA:93357
HP:0030680	Abnormal cardiovascular system morphology	2677	GGCX	ORPHA:91135
HP:0030680	Abnormal cardiovascular system morphology	1289	COL5A1	ORPHA:287
HP:0030680	Abnormal cardiovascular system morphology	1289	COL5A1	OMIM:619329
HP:0030680	Abnormal cardiovascular system morphology	1290	COL5A2	ORPHA:287
HP:0030680	Abnormal cardiovascular system morphology	633	BGN	OMIM:300989
HP:0030680	Abnormal cardiovascular system morphology	8985	PLOD3	OMIM:612394
HP:0030680	Abnormal cardiovascular system morphology	5831	PYCR1	OMIM:612940
HP:0030680	Abnormal cardiovascular system morphology	3417	IDH1	ORPHA:99646
HP:0030680	Abnormal cardiovascular system morphology	10491	CRTAP	OMIM:610682
HP:0030680	Abnormal cardiovascular system morphology	3977	LIFR	OMIM:601559
HP:0030680	Abnormal cardiovascular system morphology	112752	IFT43	OMIM:614099
HP:0030680	Abnormal cardiovascular system morphology	10157	AASS	ORPHA:2203
HP:0030680	Abnormal cardiovascular system morphology	60684	TRAPPC11	ORPHA:369840
HP:0030680	Abnormal cardiovascular system morphology	60684	TRAPPC11	ORPHA:369847
HP:0030680	Abnormal cardiovascular system morphology	29119	CTNNA3	OMIM:615616
HP:0030680	Abnormal cardiovascular system morphology	221496	LEMD2	OMIM:619322
HP:0030680	Abnormal cardiovascular system morphology	1201	CLN3	OMIM:204200
HP:0030680	Abnormal cardiovascular system morphology	10524	KAT5	OMIM:619103
HP:0030680	Abnormal cardiovascular system morphology	171019	ADAMTS19	OMIM:620067
HP:0030680	Abnormal cardiovascular system morphology	3990	LIPC	ORPHA:140905
HP:0030680	Abnormal cardiovascular system morphology	338328	GPIHBP1	OMIM:615947
HP:0030680	Abnormal cardiovascular system morphology	4205	MEF2A	OMIM:608320
HP:0030680	Abnormal cardiovascular system morphology	4040	LRP6	OMIM:610947
HP:0030680	Abnormal cardiovascular system morphology	4010	LMX1B	ORPHA:2614
HP:0030680	Abnormal cardiovascular system morphology	3198	HOXA1	OMIM:601536
HP:0030680	Abnormal cardiovascular system morphology	4693	NDP	ORPHA:649
HP:0030680	Abnormal cardiovascular system morphology	64093	SMOC1	ORPHA:1106
HP:0030680	Abnormal cardiovascular system morphology	128	ADH5	OMIM:619151
HP:0030680	Abnormal cardiovascular system morphology	81704	DOCK8	OMIM:243700
HP:0030680	Abnormal cardiovascular system morphology	10621	POLR3F	OMIM:619872
HP:0030680	Abnormal cardiovascular system morphology	54345	SOX18	OMIM:137940
HP:0030680	Abnormal cardiovascular system morphology	3431	SP110	OMIM:235550
HP:0030680	Abnormal cardiovascular system morphology	5156	PDGFRA	OMIM:607685
HP:0030680	Abnormal cardiovascular system morphology	4634	MYL3	OMIM:608751
HP:0030680	Abnormal cardiovascular system morphology	3949	LDLR	ORPHA:391665
HP:0030680	Abnormal cardiovascular system morphology	255738	PCSK9	ORPHA:391665
HP:0030680	Abnormal cardiovascular system morphology	26119	LDLRAP1	ORPHA:391665
HP:0030680	Abnormal cardiovascular system morphology	338	APOB	ORPHA:391665
HP:0030680	Abnormal cardiovascular system morphology	64240	ABCG5	ORPHA:391665
HP:0030680	Abnormal cardiovascular system morphology	64241	ABCG8	ORPHA:391665
HP:0030680	Abnormal cardiovascular system morphology	11198	SUPT16H	OMIM:619480
HP:0030680	Abnormal cardiovascular system morphology	90416	CCDC32	OMIM:619123
HP:0030680	Abnormal cardiovascular system morphology	55997	CFC1	OMIM:605376
HP:0030680	Abnormal cardiovascular system morphology	79989	IFT56	OMIM:619534
HP:0030680	Abnormal cardiovascular system morphology	50619	DEF6	OMIM:619573
HP:0030680	Abnormal cardiovascular system morphology	83871	RAB34	OMIM:620718
HP:0030680	Abnormal cardiovascular system morphology	93	ACVR2B	OMIM:613751
HP:0030680	Abnormal cardiovascular system morphology	7026	NR2F2	OMIM:615779
HP:0030680	Abnormal cardiovascular system morphology	23522	KAT6B	ORPHA:3047
HP:0030680	Abnormal cardiovascular system morphology	1000	CDH2	OMIM:618929
HP:0030680	Abnormal cardiovascular system morphology	5587	PRKD1	OMIM:617364
HP:0030680	Abnormal cardiovascular system morphology	11193	WBP4	OMIM:620852
HP:0030680	Abnormal cardiovascular system morphology	5318	PKP2	OMIM:609040
HP:0030680	Abnormal cardiovascular system morphology	5832	ALDH18A1	ORPHA:90348
HP:0030680	Abnormal cardiovascular system morphology	54820	NDE1	ORPHA:2177
HP:0030680	Abnormal cardiovascular system morphology	6134	RPL10	ORPHA:459070
HP:0030680	Abnormal cardiovascular system morphology	85465	SELENOI	ORPHA:506353
HP:0030680	Abnormal cardiovascular system morphology	4539	MT-ND4L	OMIM:535000
HP:0030680	Abnormal cardiovascular system morphology	2161	F12	ORPHA:330
HP:0030680	Abnormal cardiovascular system morphology	7439	BEST1	OMIM:193220
HP:0030680	Abnormal cardiovascular system morphology	7287	TULP1	OMIM:600132
HP:0030680	Abnormal cardiovascular system morphology	9129	PRPF3	OMIM:601414
HP:0030680	Abnormal cardiovascular system morphology	3458	IFNG	OMIM:613254
HP:0030680	Abnormal cardiovascular system morphology	3458	IFNG	ORPHA:805
HP:0030680	Abnormal cardiovascular system morphology	7249	TSC2	OMIM:613254
HP:0030680	Abnormal cardiovascular system morphology	7249	TSC2	ORPHA:805
HP:0030680	Abnormal cardiovascular system morphology	7248	TSC1	ORPHA:805
HP:0030680	Abnormal cardiovascular system morphology	7248	TSC1	OMIM:191100
HP:0030680	Abnormal cardiovascular system morphology	55553	SOX6	OMIM:618971
HP:0030680	Abnormal cardiovascular system morphology	158326	FREM1	OMIM:608980
HP:0030680	Abnormal cardiovascular system morphology	8643	PTCH2	ORPHA:377
HP:0030680	Abnormal cardiovascular system morphology	427	ASAH1	ORPHA:333
HP:0030680	Abnormal cardiovascular system morphology	427	ASAH1	OMIM:228000
HP:0030680	Abnormal cardiovascular system morphology	5476	CTSA	ORPHA:351
HP:0030680	Abnormal cardiovascular system morphology	5476	CTSA	OMIM:256540
HP:0030680	Abnormal cardiovascular system morphology	2581	GALC	ORPHA:206436
HP:0030680	Abnormal cardiovascular system morphology	5660	PSAP	ORPHA:206436
HP:0030680	Abnormal cardiovascular system morphology	3073	HEXA	OMIM:272800
HP:0030680	Abnormal cardiovascular system morphology	1615	DARS1	OMIM:615281
HP:0030680	Abnormal cardiovascular system morphology	2760	GM2A	ORPHA:309246
HP:0030680	Abnormal cardiovascular system morphology	10730	YME1L1	OMIM:617302
HP:0030680	Abnormal cardiovascular system morphology	92579	G6PC3	OMIM:612541
HP:0030680	Abnormal cardiovascular system morphology	6263	RYR3	OMIM:620310
HP:0030680	Abnormal cardiovascular system morphology	1857	DVL3	OMIM:616894
HP:0030680	Abnormal cardiovascular system morphology	348180	CTU2	OMIM:618142
HP:0030680	Abnormal cardiovascular system morphology	51726	DNAJB11	ORPHA:730
HP:0030680	Abnormal cardiovascular system morphology	23193	GANAB	ORPHA:730
HP:0030680	Abnormal cardiovascular system morphology	5310	PKD1	ORPHA:730
HP:0030680	Abnormal cardiovascular system morphology	29880	ALG5	ORPHA:730
HP:0030680	Abnormal cardiovascular system morphology	9742	IFT140	ORPHA:730
HP:0030680	Abnormal cardiovascular system morphology	80114	BICC1	ORPHA:730
HP:0030680	Abnormal cardiovascular system morphology	2653	GCSH	OMIM:620423
HP:0030680	Abnormal cardiovascular system morphology	10847	SRCAP	ORPHA:2044
HP:0030680	Abnormal cardiovascular system morphology	10847	SRCAP	OMIM:136140
HP:0030680	Abnormal cardiovascular system morphology	7543	ZFX	OMIM:301118
HP:0030680	Abnormal cardiovascular system morphology	129563	DIS3L2	OMIM:267000
HP:0030680	Abnormal cardiovascular system morphology	5700	PSMC1	OMIM:620071
HP:0030680	Abnormal cardiovascular system morphology	23511	NUP188	OMIM:618804
HP:0030680	Abnormal cardiovascular system morphology	51729	WBP11	OMIM:619227
HP:0030680	Abnormal cardiovascular system morphology	374969	SVBP	OMIM:618569
HP:0030680	Abnormal cardiovascular system morphology	1828	DSG1	OMIM:615508
HP:0030680	Abnormal cardiovascular system morphology	2186	BPTF	ORPHA:529962
HP:0030680	Abnormal cardiovascular system morphology	1824	DSC2	OMIM:610476
HP:0030680	Abnormal cardiovascular system morphology	57534	MIB1	OMIM:615092
HP:0030680	Abnormal cardiovascular system morphology	135	ADORA2A	ORPHA:363549
HP:0030680	Abnormal cardiovascular system morphology	284252	KCTD1	OMIM:181270
HP:0030680	Abnormal cardiovascular system morphology	4626	MYH8	OMIM:608837
HP:0030680	Abnormal cardiovascular system morphology	50940	PDE11A	ORPHA:1359
HP:0030680	Abnormal cardiovascular system morphology	808	CALM3	OMIM:618782
HP:0030680	Abnormal cardiovascular system morphology	22872	SEC31A	OMIM:618651
HP:0030680	Abnormal cardiovascular system morphology	79053	ALG8	OMIM:608104
HP:0030680	Abnormal cardiovascular system morphology	3712	IVD	OMIM:243500
HP:0030680	Abnormal cardiovascular system morphology	567	B2M	ORPHA:314652
HP:0030680	Abnormal cardiovascular system morphology	1593	CYP27A1	ORPHA:909
HP:0030680	Abnormal cardiovascular system morphology	1855	DVL1	OMIM:616331
HP:0030680	Abnormal cardiovascular system morphology	23545	ATP6V0A2	ORPHA:2834
HP:0030680	Abnormal cardiovascular system morphology	23545	ATP6V0A2	OMIM:278250
HP:0030680	Abnormal cardiovascular system morphology	9382	COG1	ORPHA:263508
HP:0030680	Abnormal cardiovascular system morphology	10525	HYOU1	OMIM:233600
HP:0030680	Abnormal cardiovascular system morphology	7317	UBA1	OMIM:301054
HP:0030680	Abnormal cardiovascular system morphology	51473	DCDC2	ORPHA:84081
HP:0030680	Abnormal cardiovascular system morphology	5518	PPP2R1A	ORPHA:457284
HP:0030680	Abnormal cardiovascular system morphology	348	APOE	ORPHA:412
HP:0030680	Abnormal cardiovascular system morphology	1581	CYP7A1	ORPHA:209902
HP:0030680	Abnormal cardiovascular system morphology	4488	MSX2	ORPHA:60015
HP:0030680	Abnormal cardiovascular system morphology	60529	ALX4	ORPHA:60015
HP:0030680	Abnormal cardiovascular system morphology	4953	ODC1	OMIM:619075
HP:0030680	Abnormal cardiovascular system morphology	4953	ODC1	ORPHA:544488
HP:0030680	Abnormal cardiovascular system morphology	55768	NGLY1	OMIM:615273
HP:0030680	Abnormal cardiovascular system morphology	8294	H4C9	OMIM:619951
HP:0030680	Abnormal cardiovascular system morphology	54453	RIN2	OMIM:613075
HP:0030680	Abnormal cardiovascular system morphology	85365	ALG2	OMIM:607906
HP:0030680	Abnormal cardiovascular system morphology	5361	PLXNA1	OMIM:619955
HP:0030680	Abnormal cardiovascular system morphology	1282	COL4A1	OMIM:175780
HP:0030680	Abnormal cardiovascular system morphology	5048	PAFAH1B1	ORPHA:95232
HP:0030680	Abnormal cardiovascular system morphology	5048	PAFAH1B1	OMIM:607432
HP:0030680	Abnormal cardiovascular system morphology	2752	GLUL	OMIM:620806
HP:0030680	Abnormal cardiovascular system morphology	51111	KMT5B	OMIM:617788
HP:0030680	Abnormal cardiovascular system morphology	1641	DCX	ORPHA:2148
HP:0030680	Abnormal cardiovascular system morphology	57688	ZSWIM6	OMIM:603671
HP:0030680	Abnormal cardiovascular system morphology	114803	MYSM1	ORPHA:508542
HP:0030680	Abnormal cardiovascular system morphology	1660	DHX9	OMIM:620988
HP:0030680	Abnormal cardiovascular system morphology	2879	GPX4	ORPHA:93317
HP:0030680	Abnormal cardiovascular system morphology	2879	GPX4	OMIM:250220
HP:0030680	Abnormal cardiovascular system morphology	801	CALM1	OMIM:616247
HP:0030680	Abnormal cardiovascular system morphology	3662	IRF4	ORPHA:3452
HP:0030680	Abnormal cardiovascular system morphology	92949	ADAMTSL1	ORPHA:521445
HP:0030680	Abnormal cardiovascular system morphology	4907	NT5E	ORPHA:289601
HP:0030680	Abnormal cardiovascular system morphology	2202	EFEMP1	ORPHA:98977
HP:0030680	Abnormal cardiovascular system morphology	1545	CYP1B1	ORPHA:98977
HP:0030680	Abnormal cardiovascular system morphology	4653	MYOC	ORPHA:98977
HP:0030680	Abnormal cardiovascular system morphology	3490	IGFBP7	OMIM:614224
HP:0030680	Abnormal cardiovascular system morphology	286204	CRB2	OMIM:219730
HP:0030680	Abnormal cardiovascular system morphology	29969	MDFIC	OMIM:620014
HP:0030680	Abnormal cardiovascular system morphology	23395	LARS2	OMIM:617021
HP:0030680	Abnormal cardiovascular system morphology	6007	RHD	OMIM:619462
HP:0030680	Abnormal cardiovascular system morphology	2859	GPR35	ORPHA:171
HP:0030680	Abnormal cardiovascular system morphology	10507	SEMA4D	ORPHA:171
HP:0030680	Abnormal cardiovascular system morphology	4485	MST1	ORPHA:171
HP:0030680	Abnormal cardiovascular system morphology	6925	TCF4	ORPHA:171
HP:0030680	Abnormal cardiovascular system morphology	7337	UBE3A	ORPHA:238446
HP:0030680	Abnormal cardiovascular system morphology	23394	ADNP	ORPHA:404448
HP:0030680	Abnormal cardiovascular system morphology	23394	ADNP	OMIM:615873
HP:0030680	Abnormal cardiovascular system morphology	341640	FREM2	ORPHA:2052
HP:0030680	Abnormal cardiovascular system morphology	80144	FRAS1	ORPHA:2052
HP:0030680	Abnormal cardiovascular system morphology	23426	GRIP1	ORPHA:2052
HP:0030680	Abnormal cardiovascular system morphology	6910	TBX5	ORPHA:392
HP:0030680	Abnormal cardiovascular system morphology	1139	CHRNA7	ORPHA:199318
HP:0030680	Abnormal cardiovascular system morphology	1139	CHRNA7	OMIM:612001
HP:0030680	Abnormal cardiovascular system morphology	84282	RNF135	ORPHA:137634
HP:0030680	Abnormal cardiovascular system morphology	4625	MYH7	ORPHA:1880
HP:0030680	Abnormal cardiovascular system morphology	8195	MKKS	OMIM:236700
HP:0030680	Abnormal cardiovascular system morphology	5830	PEX5	OMIM:214110
HP:0030680	Abnormal cardiovascular system morphology	81839	VANGL1	ORPHA:3027
HP:0030680	Abnormal cardiovascular system morphology	80199	FUZ	ORPHA:3027
HP:0030680	Abnormal cardiovascular system morphology	6662	SOX9	ORPHA:140
HP:0030680	Abnormal cardiovascular system morphology	6662	SOX9	ORPHA:251510
HP:0030680	Abnormal cardiovascular system morphology	55112	DYNC2I1	ORPHA:93271
HP:0030680	Abnormal cardiovascular system morphology	57560	IFT80	ORPHA:93271
HP:0030680	Abnormal cardiovascular system morphology	57539	WDR35	ORPHA:93271
HP:0030680	Abnormal cardiovascular system morphology	79659	DYNC2H1	ORPHA:93271
HP:0030680	Abnormal cardiovascular system morphology	89891	DYNC2I2	ORPHA:93271
HP:0030680	Abnormal cardiovascular system morphology	374654	KIF7	OMIM:200990
HP:0030680	Abnormal cardiovascular system morphology	374654	KIF7	ORPHA:2189
HP:0030680	Abnormal cardiovascular system morphology	57222	ERGIC1	OMIM:208100
HP:0030680	Abnormal cardiovascular system morphology	2175	FANCA	OMIM:227650
HP:0030680	Abnormal cardiovascular system morphology	23322	RPGRIP1L	ORPHA:220497
HP:0030680	Abnormal cardiovascular system morphology	23322	RPGRIP1L	ORPHA:564
HP:0030680	Abnormal cardiovascular system morphology	4867	NPHP1	ORPHA:220497
HP:0030680	Abnormal cardiovascular system morphology	65062	TMEM237	ORPHA:220497
HP:0030680	Abnormal cardiovascular system morphology	65062	TMEM237	ORPHA:475
HP:0030680	Abnormal cardiovascular system morphology	65062	TMEM237	ORPHA:2318
HP:0030680	Abnormal cardiovascular system morphology	65062	TMEM237	ORPHA:564
HP:0030680	Abnormal cardiovascular system morphology	72	ACTG2	ORPHA:2604
HP:0030680	Abnormal cardiovascular system morphology	72	ACTG2	ORPHA:2241
HP:0030680	Abnormal cardiovascular system morphology	54806	AHI1	ORPHA:220493
HP:0030680	Abnormal cardiovascular system morphology	54806	AHI1	ORPHA:475
HP:0030680	Abnormal cardiovascular system morphology	56623	INPP5E	ORPHA:220493
HP:0030680	Abnormal cardiovascular system morphology	56623	INPP5E	ORPHA:475
HP:0030680	Abnormal cardiovascular system morphology	153241	CEP120	ORPHA:220493
HP:0030680	Abnormal cardiovascular system morphology	153241	CEP120	ORPHA:475
HP:0030680	Abnormal cardiovascular system morphology	54903	MKS1	ORPHA:220493
HP:0030680	Abnormal cardiovascular system morphology	54903	MKS1	ORPHA:475
HP:0030680	Abnormal cardiovascular system morphology	54903	MKS1	ORPHA:564
HP:0030680	Abnormal cardiovascular system morphology	95681	CEP41	ORPHA:220493
HP:0030680	Abnormal cardiovascular system morphology	95681	CEP41	ORPHA:475
HP:0030680	Abnormal cardiovascular system morphology	2314	FLII	ORPHA:819
HP:0030680	Abnormal cardiovascular system morphology	23096	IQSEC2	ORPHA:819
HP:0030680	Abnormal cardiovascular system morphology	10743	RAI1	ORPHA:819
HP:0030680	Abnormal cardiovascular system morphology	10743	RAI1	ORPHA:1713
HP:0030680	Abnormal cardiovascular system morphology	10743	RAI1	OMIM:182290
HP:0030680	Abnormal cardiovascular system morphology	10522	DEAF1	ORPHA:819
HP:0030680	Abnormal cardiovascular system morphology	2132	EXT2	ORPHA:466926
HP:0030680	Abnormal cardiovascular system morphology	1717	DHCR7	ORPHA:818
HP:0030680	Abnormal cardiovascular system morphology	55636	CHD7	ORPHA:138
HP:0030680	Abnormal cardiovascular system morphology	55636	CHD7	ORPHA:478
HP:0030680	Abnormal cardiovascular system morphology	9723	SEMA3E	ORPHA:138
HP:0030680	Abnormal cardiovascular system morphology	1185	CLCN6	OMIM:619173
HP:0030680	Abnormal cardiovascular system morphology	2260	FGFR1	ORPHA:280200
HP:0030680	Abnormal cardiovascular system morphology	2260	FGFR1	ORPHA:478
HP:0030680	Abnormal cardiovascular system morphology	2260	FGFR1	OMIM:147950
HP:0030680	Abnormal cardiovascular system morphology	2260	FGFR1	ORPHA:3157
HP:0030680	Abnormal cardiovascular system morphology	28514	DLL1	ORPHA:280200
HP:0030680	Abnormal cardiovascular system morphology	2253	FGF8	ORPHA:280200
HP:0030680	Abnormal cardiovascular system morphology	2253	FGF8	ORPHA:478
HP:0030680	Abnormal cardiovascular system morphology	6496	SIX3	ORPHA:280200
HP:0030680	Abnormal cardiovascular system morphology	7050	TGIF1	ORPHA:280200
HP:0030680	Abnormal cardiovascular system morphology	4838	NODAL	ORPHA:280200
HP:0030680	Abnormal cardiovascular system morphology	6469	SHH	ORPHA:280200
HP:0030680	Abnormal cardiovascular system morphology	51684	SUFU	ORPHA:280200
HP:0030680	Abnormal cardiovascular system morphology	51684	SUFU	ORPHA:475
HP:0030680	Abnormal cardiovascular system morphology	7546	ZIC2	ORPHA:280200
HP:0030680	Abnormal cardiovascular system morphology	2619	GAS1	ORPHA:280200
HP:0030680	Abnormal cardiovascular system morphology	84976	DISP1	ORPHA:280200
HP:0030680	Abnormal cardiovascular system morphology	2736	GLI2	ORPHA:280200
HP:0030680	Abnormal cardiovascular system morphology	8928	FOXH1	ORPHA:280200
HP:0030680	Abnormal cardiovascular system morphology	6997	CRIPTO	ORPHA:280200
HP:0030680	Abnormal cardiovascular system morphology	5727	PTCH1	ORPHA:280200
HP:0030680	Abnormal cardiovascular system morphology	50937	CDON	ORPHA:280200
HP:0030680	Abnormal cardiovascular system morphology	2263	FGFR2	ORPHA:87
HP:0030680	Abnormal cardiovascular system morphology	2263	FGFR2	OMIM:101400
HP:0030680	Abnormal cardiovascular system morphology	2263	FGFR2	ORPHA:794
HP:0030680	Abnormal cardiovascular system morphology	3423	IDS	ORPHA:217085
HP:0030680	Abnormal cardiovascular system morphology	3423	IDS	ORPHA:217093
HP:0030680	Abnormal cardiovascular system morphology	6598	SMARCB1	OMIM:614608
HP:0030680	Abnormal cardiovascular system morphology	2697	GJA1	ORPHA:2710
HP:0030680	Abnormal cardiovascular system morphology	2697	GJA1	ORPHA:317
HP:0030680	Abnormal cardiovascular system morphology	2626	GATA4	ORPHA:251071
HP:0030680	Abnormal cardiovascular system morphology	2626	GATA4	ORPHA:251510
HP:0030680	Abnormal cardiovascular system morphology	5566	PRKACA	ORPHA:289
HP:0030680	Abnormal cardiovascular system morphology	5567	PRKACB	ORPHA:289
HP:0030680	Abnormal cardiovascular system morphology	2735	GLI1	ORPHA:289
HP:0030680	Abnormal cardiovascular system morphology	2121	EVC	ORPHA:289
HP:0030680	Abnormal cardiovascular system morphology	51626	DYNC2LI1	ORPHA:289
HP:0030680	Abnormal cardiovascular system morphology	132884	EVC2	ORPHA:289
HP:0030680	Abnormal cardiovascular system morphology	9401	RECQL4	OMIM:218600
HP:0030680	Abnormal cardiovascular system morphology	1281	COL3A1	ORPHA:286
HP:0030680	Abnormal cardiovascular system morphology	10815	CPLX1	ORPHA:280
HP:0030680	Abnormal cardiovascular system morphology	10815	CPLX1	OMIM:194190
HP:0030680	Abnormal cardiovascular system morphology	54872	PIGG	ORPHA:280
HP:0030680	Abnormal cardiovascular system morphology	7469	NELFA	ORPHA:280
HP:0030680	Abnormal cardiovascular system morphology	1487	CTBP1	ORPHA:280
HP:0030680	Abnormal cardiovascular system morphology	1487	CTBP1	OMIM:194190
HP:0030680	Abnormal cardiovascular system morphology	3954	LETM1	ORPHA:280
HP:0030680	Abnormal cardiovascular system morphology	3954	LETM1	OMIM:194190
HP:0030680	Abnormal cardiovascular system morphology	7468	NSD2	ORPHA:280
HP:0030680	Abnormal cardiovascular system morphology	7468	NSD2	OMIM:194190
HP:0030680	Abnormal cardiovascular system morphology	9184	BUB3	ORPHA:1052
HP:0030680	Abnormal cardiovascular system morphology	699	BUB1	ORPHA:1052
HP:0030680	Abnormal cardiovascular system morphology	9702	CEP57	ORPHA:1052
HP:0030680	Abnormal cardiovascular system morphology	9319	TRIP13	ORPHA:1052
HP:0030680	Abnormal cardiovascular system morphology	701	BUB1B	ORPHA:1052
HP:0030680	Abnormal cardiovascular system morphology	23414	ZFPM2	ORPHA:2140
HP:0030680	Abnormal cardiovascular system morphology	23414	ZFPM2	ORPHA:251510
HP:0030680	Abnormal cardiovascular system morphology	9361	LONP1	ORPHA:2140
HP:0030680	Abnormal cardiovascular system morphology	2627	GATA6	ORPHA:2140
HP:0030680	Abnormal cardiovascular system morphology	1501	CTNND2	ORPHA:281
HP:0030680	Abnormal cardiovascular system morphology	9037	SEMA5A	ORPHA:281
HP:0030680	Abnormal cardiovascular system morphology	7291	TWIST1	OMIM:101400
HP:0030680	Abnormal cardiovascular system morphology	7291	TWIST1	ORPHA:794
HP:0030680	Abnormal cardiovascular system morphology	6845	VAMP7	ORPHA:251510
HP:0030680	Abnormal cardiovascular system morphology	51741	WWOX	ORPHA:251510
HP:0030680	Abnormal cardiovascular system morphology	4214	MAP3K1	ORPHA:251510
HP:0030680	Abnormal cardiovascular system morphology	2516	NR5A1	ORPHA:251510
HP:0030680	Abnormal cardiovascular system morphology	7490	WT1	ORPHA:251510
HP:0030680	Abnormal cardiovascular system morphology	57647	DHX37	ORPHA:251510
HP:0030680	Abnormal cardiovascular system morphology	6736	SRY	ORPHA:251510
HP:0030680	Abnormal cardiovascular system morphology	6736	SRY	ORPHA:1772
HP:0030680	Abnormal cardiovascular system morphology	190	NR0B1	ORPHA:251510
HP:0030680	Abnormal cardiovascular system morphology	526	ATP6V1B2	ORPHA:3473
HP:0030680	Abnormal cardiovascular system morphology	526	ATP6V1B2	ORPHA:79500
HP:0030680	Abnormal cardiovascular system morphology	3756	KCNH1	ORPHA:3473
HP:0030680	Abnormal cardiovascular system morphology	3782	KCNN3	ORPHA:3473
HP:0030680	Abnormal cardiovascular system morphology	53834	FGFRL1	OMIM:194190
HP:0030680	Abnormal cardiovascular system morphology	4853	NOTCH2	ORPHA:955
HP:0030680	Abnormal cardiovascular system morphology	6197	RPS6KA3	ORPHA:276630
HP:0030680	Abnormal cardiovascular system morphology	57167	SALL4	ORPHA:233
HP:0030680	Abnormal cardiovascular system morphology	9935	MAFB	ORPHA:233
HP:0030680	Abnormal cardiovascular system morphology	1123	CHN1	ORPHA:233
HP:0030680	Abnormal cardiovascular system morphology	9851	KIAA0753	ORPHA:475
HP:0030680	Abnormal cardiovascular system morphology	5147	PDE6D	ORPHA:475
HP:0030680	Abnormal cardiovascular system morphology	79600	TCTN1	ORPHA:475
HP:0030680	Abnormal cardiovascular system morphology	79600	TCTN1	ORPHA:564
HP:0030680	Abnormal cardiovascular system morphology	79848	CSPP1	ORPHA:475
HP:0030680	Abnormal cardiovascular system morphology	79848	CSPP1	ORPHA:564
HP:0030680	Abnormal cardiovascular system morphology	8481	OFD1	ORPHA:475
HP:0030680	Abnormal cardiovascular system morphology	8481	OFD1	ORPHA:244
HP:0030680	Abnormal cardiovascular system morphology	65250	CPLANE1	ORPHA:475
HP:0030680	Abnormal cardiovascular system morphology	91147	TMEM67	ORPHA:475
HP:0030680	Abnormal cardiovascular system morphology	91147	TMEM67	ORPHA:564
HP:0030680	Abnormal cardiovascular system morphology	200894	ARL13B	ORPHA:475
HP:0030680	Abnormal cardiovascular system morphology	9731	CEP104	ORPHA:475
HP:0030680	Abnormal cardiovascular system morphology	219844	HYLS1	ORPHA:475
HP:0030680	Abnormal cardiovascular system morphology	219844	HYLS1	ORPHA:2189
HP:0030680	Abnormal cardiovascular system morphology	23247	KATNIP	ORPHA:475
HP:0030680	Abnormal cardiovascular system morphology	219854	TMEM218	ORPHA:475
HP:0030680	Abnormal cardiovascular system morphology	9786	KIAA0586	ORPHA:475
HP:0030680	Abnormal cardiovascular system morphology	26123	TCTN3	ORPHA:475
HP:0030680	Abnormal cardiovascular system morphology	26123	TCTN3	ORPHA:564
HP:0030680	Abnormal cardiovascular system morphology	26123	TCTN3	ORPHA:2753
HP:0030680	Abnormal cardiovascular system morphology	79867	TCTN2	ORPHA:475
HP:0030680	Abnormal cardiovascular system morphology	79867	TCTN2	ORPHA:564
HP:0030680	Abnormal cardiovascular system morphology	80776	B9D2	ORPHA:475
HP:0030680	Abnormal cardiovascular system morphology	80776	B9D2	ORPHA:564
HP:0030680	Abnormal cardiovascular system morphology	10464	PIBF1	ORPHA:475
HP:0030680	Abnormal cardiovascular system morphology	80210	ARMC9	ORPHA:475
HP:0030680	Abnormal cardiovascular system morphology	23116	TOGARAM1	ORPHA:475
HP:0030680	Abnormal cardiovascular system morphology	25776	CBY1	ORPHA:475
HP:0030680	Abnormal cardiovascular system morphology	27077	B9D1	ORPHA:475
HP:0030680	Abnormal cardiovascular system morphology	27077	B9D1	ORPHA:564
HP:0030680	Abnormal cardiovascular system morphology	403	ARL3	ORPHA:475
HP:0030680	Abnormal cardiovascular system morphology	80173	IFT74	ORPHA:475
HP:0030680	Abnormal cardiovascular system morphology	3981	LIG4	ORPHA:235
HP:0030680	Abnormal cardiovascular system morphology	54888	NSUN2	ORPHA:235
HP:0030680	Abnormal cardiovascular system morphology	392255	GDF6	OMIM:118100
HP:0030680	Abnormal cardiovascular system morphology	392255	GDF6	ORPHA:2345
HP:0030680	Abnormal cardiovascular system morphology	5290	PIK3CA	ORPHA:60040
HP:0030680	Abnormal cardiovascular system morphology	5290	PIK3CA	OMIM:612918
HP:0030680	Abnormal cardiovascular system morphology	10908	PNPLA6	ORPHA:2377
HP:0030680	Abnormal cardiovascular system morphology	5979	RET	ORPHA:1848
HP:0030680	Abnormal cardiovascular system morphology	8516	ITGA8	ORPHA:1848
HP:0030680	Abnormal cardiovascular system morphology	26281	FGF20	ORPHA:1848
HP:0030680	Abnormal cardiovascular system morphology	2674	GFRA1	ORPHA:1848
HP:0030680	Abnormal cardiovascular system morphology	7484	WNT9B	ORPHA:1848
HP:0030680	Abnormal cardiovascular system morphology	80000	GREB1L	ORPHA:1848
HP:0030680	Abnormal cardiovascular system morphology	5590	PRKCZ	ORPHA:1606
HP:0030680	Abnormal cardiovascular system morphology	2563	GABRD	ORPHA:1606
HP:0030680	Abnormal cardiovascular system morphology	23013	SPEN	ORPHA:1606
HP:0030680	Abnormal cardiovascular system morphology	8510	MMP23B	ORPHA:1606
HP:0030680	Abnormal cardiovascular system morphology	7798	LUZP1	ORPHA:1606
HP:0030680	Abnormal cardiovascular system morphology	6497	SKI	ORPHA:1606
HP:0030680	Abnormal cardiovascular system morphology	10630	PDPN	ORPHA:1606
HP:0030680	Abnormal cardiovascular system morphology	3339	HSPG2	ORPHA:1606
HP:0030680	Abnormal cardiovascular system morphology	10277	UBE4B	ORPHA:1606
HP:0030680	Abnormal cardiovascular system morphology	8514	KCNAB2	ORPHA:1606
HP:0030680	Abnormal cardiovascular system morphology	473	RERE	ORPHA:1606
HP:0030680	Abnormal cardiovascular system morphology	63976	PRDM16	ORPHA:1606
HP:0030680	Abnormal cardiovascular system morphology	54897	CASZ1	ORPHA:1606
HP:0030680	Abnormal cardiovascular system morphology	157570	ESCO2	ORPHA:3103
HP:0030680	Abnormal cardiovascular system morphology	7547	ZIC3	OMIM:314390
HP:0030680	Abnormal cardiovascular system morphology	2187	FANCB	OMIM:314390
HP:0030680	Abnormal cardiovascular system morphology	2187	FANCB	ORPHA:3412
HP:0030680	Abnormal cardiovascular system morphology	4094	MAF	ORPHA:1272
HP:0030680	Abnormal cardiovascular system morphology	10436	EMG1	ORPHA:1270
HP:0030680	Abnormal cardiovascular system morphology	3845	KRAS	ORPHA:3339
HP:0030680	Abnormal cardiovascular system morphology	3845	KRAS	ORPHA:1340
HP:0030680	Abnormal cardiovascular system morphology	3845	KRAS	ORPHA:648
HP:0030680	Abnormal cardiovascular system morphology	25802	LMOD1	ORPHA:2241
HP:0030680	Abnormal cardiovascular system morphology	4629	MYH11	ORPHA:2241
HP:0030680	Abnormal cardiovascular system morphology	4638	MYLK	ORPHA:2241
HP:0030680	Abnormal cardiovascular system morphology	57492	ARID1B	ORPHA:251056
HP:0030680	Abnormal cardiovascular system morphology	1749	DLX5	OMIM:183600
HP:0030680	Abnormal cardiovascular system morphology	3481	IGF2	ORPHA:2128
HP:0030680	Abnormal cardiovascular system morphology	10984	KCNQ1OT1	ORPHA:2128
HP:0030680	Abnormal cardiovascular system morphology	283120	H19	ORPHA:2128
HP:0030680	Abnormal cardiovascular system morphology	2239	GPC4	ORPHA:373
HP:0030680	Abnormal cardiovascular system morphology	2239	GPC4	ORPHA:2662
HP:0030680	Abnormal cardiovascular system morphology	2719	GPC3	ORPHA:373
HP:0030680	Abnormal cardiovascular system morphology	64220	STRA6	ORPHA:2470
HP:0030680	Abnormal cardiovascular system morphology	7477	WNT7B	ORPHA:2470
HP:0030680	Abnormal cardiovascular system morphology	5915	RARB	ORPHA:2470
HP:0030680	Abnormal cardiovascular system morphology	2200	FBN1	ORPHA:3449
HP:0030680	Abnormal cardiovascular system morphology	170691	ADAMTS17	ORPHA:3449
HP:0030680	Abnormal cardiovascular system morphology	4053	LTBP2	ORPHA:3449
HP:0030680	Abnormal cardiovascular system morphology	81794	ADAMTS10	ORPHA:3449
HP:0030680	Abnormal cardiovascular system morphology	23483	TGDS	ORPHA:1388
HP:0030680	Abnormal cardiovascular system morphology	4052	LTBP1	ORPHA:90349
HP:0030680	Abnormal cardiovascular system morphology	30008	EFEMP2	ORPHA:90349
HP:0030680	Abnormal cardiovascular system morphology	10516	FBLN5	ORPHA:90349
HP:0030680	Abnormal cardiovascular system morphology	1836	SLC26A2	ORPHA:93298
HP:0030680	Abnormal cardiovascular system morphology	9321	TRIP11	ORPHA:93299
HP:0030680	Abnormal cardiovascular system morphology	2303	FOXC2	ORPHA:33001
HP:0030680	Abnormal cardiovascular system morphology	10195	ALG3	ORPHA:79321
HP:0030680	Abnormal cardiovascular system morphology	64324	NSD1	ORPHA:3447
HP:0030680	Abnormal cardiovascular system morphology	23512	SUZ12	ORPHA:3447
HP:0030680	Abnormal cardiovascular system morphology	2146	EZH2	ORPHA:3447
HP:0030680	Abnormal cardiovascular system morphology	25981	DNAH1	ORPHA:244
HP:0030680	Abnormal cardiovascular system morphology	115948	ODAD3	ORPHA:244
HP:0030680	Abnormal cardiovascular system morphology	54768	HYDIN	ORPHA:244
HP:0030680	Abnormal cardiovascular system morphology	352909	DNAAF3	ORPHA:244
HP:0030680	Abnormal cardiovascular system morphology	27148	STK36	ORPHA:244
HP:0030680	Abnormal cardiovascular system morphology	51314	NME8	ORPHA:244
HP:0030680	Abnormal cardiovascular system morphology	92749	DRC1	ORPHA:244
HP:0030680	Abnormal cardiovascular system morphology	54970	TTC12	ORPHA:244
HP:0030680	Abnormal cardiovascular system morphology	152110	NEK10	ORPHA:244
HP:0030680	Abnormal cardiovascular system morphology	2302	FOXJ1	ORPHA:244
HP:0030680	Abnormal cardiovascular system morphology	221421	RSPH9	ORPHA:244
HP:0030680	Abnormal cardiovascular system morphology	85478	CCDC65	ORPHA:244
HP:0030680	Abnormal cardiovascular system morphology	55036	CCDC40	ORPHA:244
HP:0030680	Abnormal cardiovascular system morphology	51364	ZMYND10	ORPHA:244
HP:0030680	Abnormal cardiovascular system morphology	64446	DNAI2	ORPHA:244
HP:0030680	Abnormal cardiovascular system morphology	8382	NME5	ORPHA:244
HP:0030680	Abnormal cardiovascular system morphology	6674	SPAG1	ORPHA:244
HP:0030680	Abnormal cardiovascular system morphology	83544	DNAL1	ORPHA:244
HP:0030680	Abnormal cardiovascular system morphology	89765	RSPH1	ORPHA:244
HP:0030680	Abnormal cardiovascular system morphology	83538	ODAD4	ORPHA:244
HP:0030680	Abnormal cardiovascular system morphology	200373	CFAP221	ORPHA:244
HP:0030680	Abnormal cardiovascular system morphology	374407	DNAJB13	ORPHA:244
HP:0030680	Abnormal cardiovascular system morphology	55172	DNAAF2	ORPHA:244
HP:0030680	Abnormal cardiovascular system morphology	161582	DNAAF4	ORPHA:244
HP:0030680	Abnormal cardiovascular system morphology	2622	GAS8	ORPHA:244
HP:0030680	Abnormal cardiovascular system morphology	23639	DNAAF11	ORPHA:244
HP:0030680	Abnormal cardiovascular system morphology	27019	DNAI1	ORPHA:244
HP:0030680	Abnormal cardiovascular system morphology	345895	RSPH4A	ORPHA:244
HP:0030680	Abnormal cardiovascular system morphology	54919	DNAAF5	ORPHA:244
HP:0030680	Abnormal cardiovascular system morphology	6103	RPGR	ORPHA:244
HP:0030680	Abnormal cardiovascular system morphology	85452	CFAP74	ORPHA:244
HP:0030680	Abnormal cardiovascular system morphology	93233	ODAD1	ORPHA:244
HP:0030680	Abnormal cardiovascular system morphology	55130	ODAD2	ORPHA:244
HP:0030680	Abnormal cardiovascular system morphology	1767	DNAH5	ORPHA:244
HP:0030680	Abnormal cardiovascular system morphology	83861	RSPH3	ORPHA:244
HP:0030680	Abnormal cardiovascular system morphology	345643	MCIDAS	ORPHA:244
HP:0030680	Abnormal cardiovascular system morphology	56683	CFAP298	ORPHA:244
HP:0030680	Abnormal cardiovascular system morphology	79925	SPEF2	ORPHA:244
HP:0030680	Abnormal cardiovascular system morphology	10309	CCNO	ORPHA:244
HP:0030680	Abnormal cardiovascular system morphology	115399	LRRC56	ORPHA:244
HP:0030680	Abnormal cardiovascular system morphology	139212	DNAAF6	ORPHA:244
HP:0030680	Abnormal cardiovascular system morphology	123872	DNAAF1	ORPHA:244
HP:0030680	Abnormal cardiovascular system morphology	85016	CFAP300	ORPHA:244
HP:0030680	Abnormal cardiovascular system morphology	339829	CCDC39	ORPHA:244
HP:0030680	Abnormal cardiovascular system morphology	8701	DNAH11	ORPHA:244
HP:0030680	Abnormal cardiovascular system morphology	1770	DNAH9	ORPHA:244
HP:0030680	Abnormal cardiovascular system morphology	246176	GAS2L2	ORPHA:244
HP:0030680	Abnormal cardiovascular system morphology	1723	DHODH	ORPHA:246
HP:0030680	Abnormal cardiovascular system morphology	10262	SF3B4	ORPHA:245
HP:0030680	Abnormal cardiovascular system morphology	10262	SF3B4	ORPHA:1788
HP:0030680	Abnormal cardiovascular system morphology	9573	GDF3	ORPHA:2345
HP:0030680	Abnormal cardiovascular system morphology	4222	MEOX1	ORPHA:2345
HP:0030680	Abnormal cardiovascular system morphology	2245	FGD1	ORPHA:915
HP:0030680	Abnormal cardiovascular system morphology	63895	PIEZO2	ORPHA:2461
HP:0030680	Abnormal cardiovascular system morphology	2201	FBN2	ORPHA:115
HP:0030680	Abnormal cardiovascular system morphology	10371	SEMA3A	ORPHA:478
HP:0030680	Abnormal cardiovascular system morphology	81848	SPRY4	ORPHA:478
HP:0030680	Abnormal cardiovascular system morphology	23767	FLRT3	ORPHA:478
HP:0030680	Abnormal cardiovascular system morphology	128674	PROKR2	ORPHA:478
HP:0030680	Abnormal cardiovascular system morphology	128674	PROKR2	ORPHA:3157
HP:0030680	Abnormal cardiovascular system morphology	79625	NDNF	ORPHA:478
HP:0030680	Abnormal cardiovascular system morphology	389549	FEZF1	ORPHA:478
HP:0030680	Abnormal cardiovascular system morphology	1630	DCC	ORPHA:478
HP:0030680	Abnormal cardiovascular system morphology	3730	ANOS1	ORPHA:478
HP:0030680	Abnormal cardiovascular system morphology	54756	IL17RD	ORPHA:478
HP:0030680	Abnormal cardiovascular system morphology	6663	SOX10	ORPHA:478
HP:0030680	Abnormal cardiovascular system morphology	285025	CCDC141	ORPHA:478
HP:0030680	Abnormal cardiovascular system morphology	60675	PROK2	ORPHA:478
HP:0030680	Abnormal cardiovascular system morphology	1848	DUSP6	ORPHA:478
HP:0030680	Abnormal cardiovascular system morphology	6870	TACR3	ORPHA:478
HP:0030680	Abnormal cardiovascular system morphology	55717	WDR11	ORPHA:478
HP:0030680	Abnormal cardiovascular system morphology	9394	HS6ST1	ORPHA:478
HP:0030680	Abnormal cardiovascular system morphology	8820	HESX1	ORPHA:478
HP:0030680	Abnormal cardiovascular system morphology	8820	HESX1	ORPHA:3157
HP:0030680	Abnormal cardiovascular system morphology	8822	FGF17	ORPHA:478
HP:0030680	Abnormal cardiovascular system morphology	84181	CHD6	ORPHA:2108
HP:0030680	Abnormal cardiovascular system morphology	2261	FGFR3	ORPHA:794
HP:0030680	Abnormal cardiovascular system morphology	22827	PUF60	ORPHA:508498
HP:0030680	Abnormal cardiovascular system morphology	51621	KLF13	OMIM:612001
HP:0030680	Abnormal cardiovascular system morphology	9759	HDAC4	ORPHA:1001
HP:0030680	Abnormal cardiovascular system morphology	92335	STRADA	ORPHA:500533
HP:0030680	Abnormal cardiovascular system morphology	5308	PITX2	ORPHA:782
HP:0030680	Abnormal cardiovascular system morphology	2296	FOXC1	ORPHA:782
HP:0030680	Abnormal cardiovascular system morphology	55215	FANCI	OMIM:609053
HP:0030680	Abnormal cardiovascular system morphology	54101	RIPK4	ORPHA:1234
HP:0030680	Abnormal cardiovascular system morphology	2033	EP300	ORPHA:353284
HP:0030680	Abnormal cardiovascular system morphology	79158	GNPTAB	ORPHA:576
HP:0030680	Abnormal cardiovascular system morphology	9469	CHST3	ORPHA:263463
HP:0030680	Abnormal cardiovascular system morphology	5925	RB1	ORPHA:1587
HP:0030680	Abnormal cardiovascular system morphology	134701	RIPPLY2	ORPHA:2311
HP:0030680	Abnormal cardiovascular system morphology	10683	DLL3	ORPHA:2311
HP:0030680	Abnormal cardiovascular system morphology	3955	LFNG	ORPHA:2311
HP:0030680	Abnormal cardiovascular system morphology	84667	HES7	ORPHA:2311
HP:0030680	Abnormal cardiovascular system morphology	145873	MESP2	ORPHA:2311
HP:0030680	Abnormal cardiovascular system morphology	5604	MAP2K1	ORPHA:1340
HP:0030680	Abnormal cardiovascular system morphology	5605	MAP2K2	ORPHA:1340
HP:0030680	Abnormal cardiovascular system morphology	673	BRAF	ORPHA:1340
HP:0030680	Abnormal cardiovascular system morphology	673	BRAF	ORPHA:500
HP:0030680	Abnormal cardiovascular system morphology	1312	COMT	ORPHA:567
HP:0030680	Abnormal cardiovascular system morphology	221037	JMJD1C	ORPHA:567
HP:0030680	Abnormal cardiovascular system morphology	2812	GP1BB	ORPHA:567
HP:0030680	Abnormal cardiovascular system morphology	6239	RREB1	ORPHA:567
HP:0030680	Abnormal cardiovascular system morphology	6899	TBX1	ORPHA:567
HP:0030680	Abnormal cardiovascular system morphology	7290	HIRA	ORPHA:567
HP:0030680	Abnormal cardiovascular system morphology	9632	SEC24C	ORPHA:567
HP:0030680	Abnormal cardiovascular system morphology	7353	UFD1	ORPHA:567
HP:0030680	Abnormal cardiovascular system morphology	421	ARVCF	ORPHA:567
HP:0030680	Abnormal cardiovascular system morphology	79583	TMEM231	ORPHA:2318
HP:0030680	Abnormal cardiovascular system morphology	79583	TMEM231	ORPHA:564
HP:0030680	Abnormal cardiovascular system morphology	51524	TMEM138	ORPHA:2318
HP:0030680	Abnormal cardiovascular system morphology	23090	ZNF423	ORPHA:2318
HP:0030680	Abnormal cardiovascular system morphology	80184	CEP290	ORPHA:2318
HP:0030680	Abnormal cardiovascular system morphology	80184	CEP290	ORPHA:564
HP:0030680	Abnormal cardiovascular system morphology	51259	TMEM216	ORPHA:2318
HP:0030680	Abnormal cardiovascular system morphology	51259	TMEM216	ORPHA:564
HP:0030680	Abnormal cardiovascular system morphology	57545	CC2D2A	ORPHA:2318
HP:0030680	Abnormal cardiovascular system morphology	57545	CC2D2A	ORPHA:564
HP:0030680	Abnormal cardiovascular system morphology	4566	MT-TK	ORPHA:1349
HP:0030680	Abnormal cardiovascular system morphology	8260	NAA10	ORPHA:568
HP:0030680	Abnormal cardiovascular system morphology	54880	BCOR	ORPHA:568
HP:0030680	Abnormal cardiovascular system morphology	197131	UBR1	ORPHA:2315
HP:0030680	Abnormal cardiovascular system morphology	84314	TMEM107	ORPHA:564
HP:0030680	Abnormal cardiovascular system morphology	57096	RPGRIP1	ORPHA:564
HP:0030680	Abnormal cardiovascular system morphology	79770	TXNDC15	ORPHA:564
HP:0030680	Abnormal cardiovascular system morphology	4784	NFIX	ORPHA:561
HP:0030680	Abnormal cardiovascular system morphology	4041	LRP5	ORPHA:2788
HP:0030680	Abnormal cardiovascular system morphology	51715	RAB23	ORPHA:65759
HP:0030680	Abnormal cardiovascular system morphology	1954	MEGF8	ORPHA:65759
HP:0030680	Abnormal cardiovascular system morphology	2707	GJB3	ORPHA:317
HP:0030680	Abnormal cardiovascular system morphology	2531	KDSR	ORPHA:317
HP:0030680	Abnormal cardiovascular system morphology	127534	GJB4	ORPHA:317
HP:0030680	Abnormal cardiovascular system morphology	23476	BRD4	ORPHA:199
HP:0030680	Abnormal cardiovascular system morphology	9126	SMC3	ORPHA:199
HP:0030680	Abnormal cardiovascular system morphology	8243	SMC1A	ORPHA:199
HP:0030680	Abnormal cardiovascular system morphology	6878	TAF6	ORPHA:199
HP:0030680	Abnormal cardiovascular system morphology	25836	NIPBL	ORPHA:199
HP:0030680	Abnormal cardiovascular system morphology	55869	HDAC8	ORPHA:199
HP:0030680	Abnormal cardiovascular system morphology	5885	RAD21	ORPHA:199
HP:0030680	Abnormal cardiovascular system morphology	5885	RAD21	ORPHA:502
HP:0030680	Abnormal cardiovascular system morphology	2316	FLNA	ORPHA:75497
HP:0030680	Abnormal cardiovascular system morphology	71	ACTG1	OMIM:614583
HP:0030680	Abnormal cardiovascular system morphology	6608	SMO	OMIM:241800
HP:0030680	Abnormal cardiovascular system morphology	5781	PTPN11	ORPHA:500
HP:0030680	Abnormal cardiovascular system morphology	5781	PTPN11	ORPHA:648
HP:0030680	Abnormal cardiovascular system morphology	5894	RAF1	ORPHA:500
HP:0030680	Abnormal cardiovascular system morphology	5894	RAF1	ORPHA:648
HP:0030680	Abnormal cardiovascular system morphology	57465	TBC1D24	ORPHA:79500
HP:0030680	Abnormal cardiovascular system morphology	207	AKT1	ORPHA:744
HP:0030680	Abnormal cardiovascular system morphology	2131	EXT1	ORPHA:502
HP:0030680	Abnormal cardiovascular system morphology	7227	TRPS1	ORPHA:502
HP:0030680	Abnormal cardiovascular system morphology	84172	POLR1B	ORPHA:861
HP:0030680	Abnormal cardiovascular system morphology	9533	POLR1C	ORPHA:861
HP:0030680	Abnormal cardiovascular system morphology	51082	POLR1D	ORPHA:861
HP:0030680	Abnormal cardiovascular system morphology	6949	TCOF1	ORPHA:861
HP:0030680	Abnormal cardiovascular system morphology	6595	SMARCA2	ORPHA:3051
HP:0030680	Abnormal cardiovascular system morphology	6911	TBX6	ORPHA:1797
HP:0030680	Abnormal cardiovascular system morphology	6299	SALL1	ORPHA:857
HP:0030680	Abnormal cardiovascular system morphology	51339	DACT1	ORPHA:857
HP:0030680	Abnormal cardiovascular system morphology	5077	PAX3	ORPHA:894
HP:0030680	Abnormal cardiovascular system morphology	1387	CREBBP	ORPHA:353277
HP:0030680	Abnormal cardiovascular system morphology	22800	RRAS2	ORPHA:648
HP:0030680	Abnormal cardiovascular system morphology	867	CBL	ORPHA:648
HP:0030680	Abnormal cardiovascular system morphology	8216	LZTR1	ORPHA:648
HP:0030680	Abnormal cardiovascular system morphology	6016	RIT1	ORPHA:648
HP:0030680	Abnormal cardiovascular system morphology	6237	RRAS	ORPHA:648
HP:0030680	Abnormal cardiovascular system morphology	22808	MRAS	ORPHA:648
HP:0030680	Abnormal cardiovascular system morphology	200734	SPRED2	ORPHA:648
HP:0030680	Abnormal cardiovascular system morphology	4893	NRAS	ORPHA:648
HP:0030680	Abnormal cardiovascular system morphology	6654	SOS1	ORPHA:648
HP:0030680	Abnormal cardiovascular system morphology	6655	SOS2	ORPHA:648
HP:0030680	Abnormal cardiovascular system morphology	5922	RASA2	ORPHA:648
HP:0030680	Abnormal cardiovascular system morphology	4621	MYH3	ORPHA:2990
HP:0030680	Abnormal cardiovascular system morphology	1146	CHRNG	ORPHA:2990
HP:0030680	Abnormal cardiovascular system morphology	10225	CD96	ORPHA:1308
HP:0030680	Abnormal cardiovascular system morphology	4750	NEK1	ORPHA:2751
HP:0030680	Abnormal cardiovascular system morphology	3239	HOXD13	ORPHA:887
HP:0030680	Abnormal cardiovascular system morphology	79644	SRD5A3	ORPHA:324737
HP:0030680	Abnormal cardiovascular system morphology	10082	GPC6	ORPHA:93329
HP:0030680	Abnormal cardiovascular system morphology	54361	WNT4	ORPHA:139466
HP:0030680	Abnormal cardiovascular system morphology	5167	ENPP1	ORPHA:758
HP:0030680	Abnormal cardiovascular system morphology	368	ABCC6	ORPHA:758
HP:0030680	Abnormal cardiovascular system morphology	6657	SOX2	ORPHA:3157
HP:0030680	Abnormal cardiovascular system morphology	6658	SOX3	ORPHA:3157
HP:0030680	Abnormal cardiovascular system morphology	9915	ARNT2	ORPHA:3157
HP:0030680	Abnormal cardiovascular system morphology	5015	OTX2	ORPHA:3157
HP:0030680	Abnormal cardiovascular system morphology	121340	SP7	OMIM:613849
HP:0030680	Abnormal cardiovascular system morphology	805	CALM2	OMIM:616249
HP:0030680	Abnormal cardiovascular system morphology	1906	EDN1	ORPHA:137888
HP:0030680	Abnormal cardiovascular system morphology	5332	PLCB4	ORPHA:137888
HP:0030680	Abnormal cardiovascular system morphology	2773	GNAI3	ORPHA:137888
HP:0030680	Abnormal cardiovascular system morphology	10551	AGR2	OMIM:620233
HP:0030680	Abnormal cardiovascular system morphology	4774	NFIA	ORPHA:401986
HP:0030680	Abnormal cardiovascular system morphology	100131801	PET100	OMIM:619055
HP:0030680	Abnormal cardiovascular system morphology	92935	MARS2	OMIM:616430
HP:0030680	Abnormal cardiovascular system morphology	26047	CNTNAP2	OMIM:610042
HP:0030680	Abnormal cardiovascular system morphology	6678	SPARC	OMIM:616507
HP:0030680	Abnormal cardiovascular system morphology	165918	RNF168	ORPHA:420741
HP:0030680	Abnormal cardiovascular system morphology	6288	SAA1	ORPHA:85445
HP:0030680	Abnormal cardiovascular system morphology	9894	TELO2	ORPHA:488642
HP:0030680	Abnormal cardiovascular system morphology	5293	PIK3CD	ORPHA:221139
HP:0030680	Abnormal cardiovascular system morphology	90417	KNSTRN	ORPHA:221139
HP:0030680	Abnormal cardiovascular system morphology	5580	PRKCD	OMIM:615559
HP:0030680	Abnormal cardiovascular system morphology	151648	SGO1	OMIM:616201
HP:0030680	Abnormal cardiovascular system morphology	9631	NUP155	OMIM:615770
HP:0030680	Abnormal cardiovascular system morphology	8815	BANF1	OMIM:614008
HP:0030680	Abnormal cardiovascular system morphology	10699	CORIN	OMIM:620734
HP:0030680	Abnormal cardiovascular system morphology	7138	TNNT1	OMIM:620386
HP:0030680	Abnormal cardiovascular system morphology	442721	LMOD2	OMIM:619897
HP:0030680	Abnormal cardiovascular system morphology	7414	VCL	OMIM:613255
HP:0030680	Abnormal cardiovascular system morphology	7137	TNNI3	OMIM:611880
HP:0030680	Abnormal cardiovascular system morphology	70	ACTC1	OMIM:613424
HP:0030680	Abnormal cardiovascular system morphology	22845	DOLK	ORPHA:91131
HP:0030680	Abnormal cardiovascular system morphology	493753	COA5	OMIM:616500
HP:0030680	Abnormal cardiovascular system morphology	779	CACNA1S	ORPHA:423
HP:0030680	Abnormal cardiovascular system morphology	57104	PNPLA2	ORPHA:565612
HP:0030680	Abnormal cardiovascular system morphology	7139	TNNT2	OMIM:612422
HP:0030680	Abnormal cardiovascular system morphology	55033	FKBP14	OMIM:614557
HP:0030680	Abnormal cardiovascular system morphology	57468	SLC12A5	ORPHA:293181
HP:0030680	Abnormal cardiovascular system morphology	23236	PLCB1	ORPHA:293181
HP:0030680	Abnormal cardiovascular system morphology	3785	KCNQ2	ORPHA:293181
HP:0030680	Abnormal cardiovascular system morphology	57582	KCNT1	ORPHA:293181
HP:0030680	Abnormal cardiovascular system morphology	6323	SCN1A	ORPHA:293181
HP:0030680	Abnormal cardiovascular system morphology	4351	MPI	OMIM:602579
HP:0030680	Abnormal cardiovascular system morphology	79709	COLGALT1	OMIM:618360
HP:0030680	Abnormal cardiovascular system morphology	490	ATP2B1	OMIM:619910
HP:0030680	Abnormal cardiovascular system morphology	11235	PDCD10	ORPHA:221061
HP:0030680	Abnormal cardiovascular system morphology	11235	PDCD10	OMIM:603285
HP:0030680	Abnormal cardiovascular system morphology	9620	CELSR1	OMIM:619319
HP:0030680	Abnormal cardiovascular system morphology	6123	RPL3L	OMIM:619371
HP:0030680	Abnormal cardiovascular system morphology	1725	DHPS	OMIM:618480
HP:0030680	Abnormal cardiovascular system morphology	54800	KLHL24	OMIM:620236
HP:0030680	Abnormal cardiovascular system morphology	29123	ANKRD11	ORPHA:2332
HP:0030680	Abnormal cardiovascular system morphology	11128	POLR3A	ORPHA:3455
HP:0030680	Abnormal cardiovascular system morphology	875	CBS	ORPHA:394
HP:0030680	Abnormal cardiovascular system morphology	7010	TEK	ORPHA:1059
HP:0030680	Abnormal cardiovascular system morphology	2767	GNA11	ORPHA:1556
HP:0030680	Abnormal cardiovascular system morphology	151188	ARL6IP6	ORPHA:1556
HP:0030680	Abnormal cardiovascular system morphology	23299	BICD2	OMIM:618291
HP:0030680	Abnormal cardiovascular system morphology	2639	GCDH	ORPHA:25
HP:0030680	Abnormal cardiovascular system morphology	2639	GCDH	OMIM:231670
HP:0030680	Abnormal cardiovascular system morphology	1785	DNM2	OMIM:615368
HP:0030680	Abnormal cardiovascular system morphology	3703	STT3A	OMIM:619714
HP:0030680	Abnormal cardiovascular system morphology	64218	SEMA4A	ORPHA:440437
HP:0030680	Abnormal cardiovascular system morphology	472	ATM	ORPHA:440437
HP:0030680	Abnormal cardiovascular system morphology	5426	POLE	ORPHA:440437
HP:0030680	Abnormal cardiovascular system morphology	4595	MUTYH	ORPHA:440437
HP:0030680	Abnormal cardiovascular system morphology	5424	POLD1	ORPHA:440437
HP:0030680	Abnormal cardiovascular system morphology	11200	CHEK2	ORPHA:440437
HP:0030680	Abnormal cardiovascular system morphology	4072	EPCAM	ORPHA:144
HP:0030680	Abnormal cardiovascular system morphology	4292	MLH1	ORPHA:144
HP:0030680	Abnormal cardiovascular system morphology	5395	PMS2	ORPHA:144
HP:0030680	Abnormal cardiovascular system morphology	2956	MSH6	ORPHA:144
HP:0030680	Abnormal cardiovascular system morphology	5378	PMS1	ORPHA:144
HP:0030680	Abnormal cardiovascular system morphology	4436	MSH2	ORPHA:144
HP:0030680	Abnormal cardiovascular system morphology	2658	GDF2	ORPHA:774
HP:0030680	Abnormal cardiovascular system morphology	94	ACVRL1	ORPHA:774
HP:0030680	Abnormal cardiovascular system morphology	2022	ENG	ORPHA:774
HP:0030680	Abnormal cardiovascular system morphology	351	APP	ORPHA:324703
HP:0030680	Abnormal cardiovascular system morphology	351	APP	ORPHA:324708
HP:0030680	Abnormal cardiovascular system morphology	5116	PCNT	ORPHA:2637
HP:0030680	Abnormal cardiovascular system morphology	9820	CUL7	ORPHA:2616
HP:0030680	Abnormal cardiovascular system morphology	23363	OBSL1	ORPHA:2616
HP:0030680	Abnormal cardiovascular system morphology	83987	CCDC8	ORPHA:2616
HP:0030680	Abnormal cardiovascular system morphology	1729	DIAPH1	ORPHA:2573
HP:0030680	Abnormal cardiovascular system morphology	57674	RNF213	ORPHA:2573
HP:0030680	Abnormal cardiovascular system morphology	7486	WRN	ORPHA:902
HP:0030680	Abnormal cardiovascular system morphology	5627	PROS1	ORPHA:743
HP:0030680	Abnormal cardiovascular system morphology	5624	PROC	ORPHA:745
HP:0030680	Abnormal cardiovascular system morphology	2776	GNAQ	ORPHA:3205
HP:0030680	Abnormal cardiovascular system morphology	56922	MCCC1	ORPHA:6
HP:0030680	Abnormal cardiovascular system morphology	64087	MCCC2	ORPHA:6
HP:0030680	Abnormal cardiovascular system morphology	2982	GUCY1A1	ORPHA:401945
HP:0030680	Abnormal cardiovascular system morphology	10019	SH2B3	ORPHA:3318
HP:0030680	Abnormal cardiovascular system morphology	811	CALR	ORPHA:3318
HP:0030680	Abnormal cardiovascular system morphology	7157	TP53	ORPHA:3318
HP:0030680	Abnormal cardiovascular system morphology	3717	JAK2	ORPHA:3318
HP:0030680	Abnormal cardiovascular system morphology	54790	TET2	ORPHA:3318
HP:0030680	Abnormal cardiovascular system morphology	84168	ANTXR1	ORPHA:2067
HP:0030680	Abnormal cardiovascular system morphology	326	AIRE	ORPHA:3453
HP:0030680	Abnormal cardiovascular system morphology	6850	SYK	OMIM:619381
HP:0030680	Abnormal cardiovascular system morphology	5238	PGM3	ORPHA:443811
HP:0030680	Abnormal cardiovascular system morphology	5238	PGM3	OMIM:615816
HP:0030680	Abnormal cardiovascular system morphology	3594	IL12RB1	ORPHA:319552
HP:0030680	Abnormal cardiovascular system morphology	713	C1QB	OMIM:620321
HP:0030680	Abnormal cardiovascular system morphology	3055	HCK	OMIM:620296
HP:0030680	Abnormal cardiovascular system morphology	79087	ALG12	ORPHA:79324
HP:0030680	Abnormal cardiovascular system morphology	2304	FOXE1	ORPHA:319487
HP:0030680	Abnormal cardiovascular system morphology	3026	HABP2	ORPHA:319487
HP:0030680	Abnormal cardiovascular system morphology	9562	MINPP1	ORPHA:319487
HP:0030680	Abnormal cardiovascular system morphology	80206	FHOD3	OMIM:619402
HP:0002566	Intestinal malrotation	2294	FOXF1	OMIM:265380
HP:0002566	Intestinal malrotation	2294	FOXF1	ORPHA:210122
HP:0002566	Intestinal malrotation	4638	MYLK	OMIM:249210
HP:0002566	Intestinal malrotation	4638	MYLK	ORPHA:2241
HP:0002566	Intestinal malrotation	2138	EYA1	OMIM:113650
HP:0002566	Intestinal malrotation	6495	SIX1	OMIM:113650
HP:0002566	Intestinal malrotation	4750	NEK1	OMIM:263520
HP:0002566	Intestinal malrotation	2132	EXT2	OMIM:616682
HP:0002566	Intestinal malrotation	72	ACTG2	OMIM:619431
HP:0002566	Intestinal malrotation	72	ACTG2	ORPHA:2241
HP:0002566	Intestinal malrotation	79827	CLMP	OMIM:615237
HP:0002566	Intestinal malrotation	79827	CLMP	ORPHA:2301
HP:0002566	Intestinal malrotation	23556	PIGN	ORPHA:2059
HP:0002566	Intestinal malrotation	5885	RAD21	OMIM:614701
HP:0002566	Intestinal malrotation	5885	RAD21	ORPHA:199
HP:0002566	Intestinal malrotation	3659	IRF1	OMIM:620668
HP:0002566	Intestinal malrotation	6091	ROBO1	OMIM:620305
HP:0002566	Intestinal malrotation	1131	CHRM3	ORPHA:2970
HP:0002566	Intestinal malrotation	4838	NODAL	OMIM:270100
HP:0002566	Intestinal malrotation	55209	SETD5	ORPHA:404440
HP:0002566	Intestinal malrotation	2627	GATA6	OMIM:600001
HP:0002566	Intestinal malrotation	2627	GATA6	ORPHA:2140
HP:0002566	Intestinal malrotation	2627	GATA6	ORPHA:2255
HP:0002566	Intestinal malrotation	1387	CREBBP	ORPHA:353281
HP:0002566	Intestinal malrotation	1387	CREBBP	ORPHA:353277
HP:0002566	Intestinal malrotation	80816	ASXL3	OMIM:615485
HP:0002566	Intestinal malrotation	89910	UBE3B	OMIM:244450
HP:0002566	Intestinal malrotation	8882	ZPR1	OMIM:619321
HP:0002566	Intestinal malrotation	341640	FREM2	OMIM:617666
HP:0002566	Intestinal malrotation	25790	CFAP45	OMIM:619608
HP:0002566	Intestinal malrotation	2033	EP300	ORPHA:353284
HP:0002566	Intestinal malrotation	2033	EP300	OMIM:613684
HP:0002566	Intestinal malrotation	5915	RARB	OMIM:615524
HP:0002566	Intestinal malrotation	51259	TMEM216	OMIM:603194
HP:0002566	Intestinal malrotation	55997	CFC1	OMIM:605376
HP:0002566	Intestinal malrotation	2263	FGFR2	ORPHA:93260
HP:0002566	Intestinal malrotation	2263	FGFR2	ORPHA:93259
HP:0002566	Intestinal malrotation	57492	ARID1B	OMIM:135900
HP:0002566	Intestinal malrotation	54880	BCOR	ORPHA:2712
HP:0002566	Intestinal malrotation	815	CAMK2A	OMIM:617798
HP:0002566	Intestinal malrotation	4853	NOTCH2	OMIM:102500
HP:0002566	Intestinal malrotation	4853	NOTCH2	ORPHA:955
HP:0002566	Intestinal malrotation	7994	KAT6A	ORPHA:457193
HP:0002566	Intestinal malrotation	7994	KAT6A	OMIM:616268
HP:0002566	Intestinal malrotation	1063	CENPF	OMIM:243605
HP:0002566	Intestinal malrotation	118856	MMP21	OMIM:616749
HP:0002566	Intestinal malrotation	1312	COMT	ORPHA:567
HP:0002566	Intestinal malrotation	221037	JMJD1C	ORPHA:567
HP:0002566	Intestinal malrotation	2812	GP1BB	ORPHA:567
HP:0002566	Intestinal malrotation	6239	RREB1	ORPHA:567
HP:0002566	Intestinal malrotation	6899	TBX1	ORPHA:567
HP:0002566	Intestinal malrotation	7290	HIRA	ORPHA:567
HP:0002566	Intestinal malrotation	9632	SEC24C	ORPHA:567
HP:0002566	Intestinal malrotation	7353	UFD1	ORPHA:567
HP:0002566	Intestinal malrotation	421	ARVCF	ORPHA:567
HP:0002566	Intestinal malrotation	8626	TP63	ORPHA:93930
HP:0002566	Intestinal malrotation	3670	ISL1	ORPHA:93930
HP:0002566	Intestinal malrotation	1717	DHCR7	OMIM:270400
HP:0002566	Intestinal malrotation	8091	HMGA2	ORPHA:94063
HP:0002566	Intestinal malrotation	23592	LEMD3	ORPHA:94063
HP:0002566	Intestinal malrotation	23414	ZFPM2	ORPHA:2140
HP:0002566	Intestinal malrotation	9361	LONP1	ORPHA:2140
HP:0002566	Intestinal malrotation	25	ABL1	OMIM:617602
HP:0002566	Intestinal malrotation	2316	FLNA	ORPHA:2301
HP:0002566	Intestinal malrotation	2316	FLNA	OMIM:300048
HP:0002566	Intestinal malrotation	4036	LRP2	ORPHA:2143
HP:0002566	Intestinal malrotation	4036	LRP2	OMIM:222448
HP:0002566	Intestinal malrotation	2065	ERBB3	OMIM:243180
HP:0002566	Intestinal malrotation	2313	FLI1	ORPHA:2308
HP:0002566	Intestinal malrotation	3192	HNRNPU	ORPHA:238769
HP:0002566	Intestinal malrotation	23476	BRD4	ORPHA:199
HP:0002566	Intestinal malrotation	9126	SMC3	ORPHA:199
HP:0002566	Intestinal malrotation	8243	SMC1A	ORPHA:199
HP:0002566	Intestinal malrotation	6878	TAF6	ORPHA:199
HP:0002566	Intestinal malrotation	25836	NIPBL	ORPHA:199
HP:0002566	Intestinal malrotation	55869	HDAC8	ORPHA:199
HP:0002566	Intestinal malrotation	4629	MYH11	OMIM:619350
HP:0002566	Intestinal malrotation	4629	MYH11	ORPHA:2241
HP:0002566	Intestinal malrotation	64840	PORCN	OMIM:305600
HP:0002566	Intestinal malrotation	79659	DYNC2H1	OMIM:613091
HP:0002566	Intestinal malrotation	57217	TTC7A	OMIM:243150
HP:0002566	Intestinal malrotation	57217	TTC7A	ORPHA:436252
HP:0002566	Intestinal malrotation	6608	SMO	OMIM:601707
HP:0002566	Intestinal malrotation	6608	SMO	ORPHA:1553
HP:0002566	Intestinal malrotation	10526	IPO8	OMIM:619472
HP:0002566	Intestinal malrotation	57167	SALL4	OMIM:147750
HP:0002566	Intestinal malrotation	222546	RFX6	OMIM:615710
HP:0002566	Intestinal malrotation	10056	FARSB	OMIM:613658
HP:0002566	Intestinal malrotation	10653	SPINT2	OMIM:270420
HP:0002566	Intestinal malrotation	113189	CHST14	OMIM:601776
HP:0002566	Intestinal malrotation	6558	SLC12A2	OMIM:619080
HP:0002566	Intestinal malrotation	1718	DHCR24	ORPHA:35107
HP:0002566	Intestinal malrotation	27031	NPHP3	OMIM:208540
HP:0002566	Intestinal malrotation	27031	NPHP3	ORPHA:3032
HP:0002566	Intestinal malrotation	28952	CCDC22	OMIM:300963
HP:0002566	Intestinal malrotation	28952	CCDC22	ORPHA:7
HP:0002566	Intestinal malrotation	112752	IFT43	OMIM:617866
HP:0002566	Intestinal malrotation	9772	TMEM94	OMIM:618316
HP:0002566	Intestinal malrotation	25802	LMOD1	ORPHA:2241
HP:0002566	Intestinal malrotation	9968	MED12	OMIM:305450
HP:0002566	Intestinal malrotation	9968	MED12	OMIM:301068
HP:0002566	Intestinal malrotation	139285	AMER1	OMIM:300373
HP:0002566	Intestinal malrotation	745	MYRF	OMIM:618280
HP:0002566	Intestinal malrotation	5297	PI4KA	ORPHA:436252
HP:0002566	Intestinal malrotation	4087	SMAD2	OMIM:619657
HP:0002566	Intestinal malrotation	59	ACTA2	OMIM:613834
HP:0002566	Intestinal malrotation	79087	ALG12	ORPHA:79324
HP:0002566	Intestinal malrotation	25981	DNAH1	ORPHA:244
HP:0002566	Intestinal malrotation	115948	ODAD3	ORPHA:244
HP:0002566	Intestinal malrotation	54768	HYDIN	ORPHA:244
HP:0002566	Intestinal malrotation	352909	DNAAF3	ORPHA:244
HP:0002566	Intestinal malrotation	27148	STK36	ORPHA:244
HP:0002566	Intestinal malrotation	51314	NME8	ORPHA:244
HP:0002566	Intestinal malrotation	92749	DRC1	ORPHA:244
HP:0002566	Intestinal malrotation	54970	TTC12	ORPHA:244
HP:0002566	Intestinal malrotation	152110	NEK10	ORPHA:244
HP:0002566	Intestinal malrotation	8481	OFD1	ORPHA:244
HP:0002566	Intestinal malrotation	2302	FOXJ1	ORPHA:244
HP:0002566	Intestinal malrotation	221421	RSPH9	ORPHA:244
HP:0002566	Intestinal malrotation	85478	CCDC65	ORPHA:244
HP:0002566	Intestinal malrotation	55036	CCDC40	ORPHA:244
HP:0002566	Intestinal malrotation	51364	ZMYND10	ORPHA:244
HP:0002566	Intestinal malrotation	64446	DNAI2	ORPHA:244
HP:0002566	Intestinal malrotation	8382	NME5	ORPHA:244
HP:0002566	Intestinal malrotation	6674	SPAG1	ORPHA:244
HP:0002566	Intestinal malrotation	83544	DNAL1	ORPHA:244
HP:0002566	Intestinal malrotation	89765	RSPH1	ORPHA:244
HP:0002566	Intestinal malrotation	83538	ODAD4	ORPHA:244
HP:0002566	Intestinal malrotation	200373	CFAP221	ORPHA:244
HP:0002566	Intestinal malrotation	374407	DNAJB13	ORPHA:244
HP:0002566	Intestinal malrotation	55172	DNAAF2	ORPHA:244
HP:0002566	Intestinal malrotation	161582	DNAAF4	ORPHA:244
HP:0002566	Intestinal malrotation	2622	GAS8	ORPHA:244
HP:0002566	Intestinal malrotation	23639	DNAAF11	ORPHA:244
HP:0002566	Intestinal malrotation	27019	DNAI1	ORPHA:244
HP:0002566	Intestinal malrotation	345895	RSPH4A	ORPHA:244
HP:0002566	Intestinal malrotation	54919	DNAAF5	ORPHA:244
HP:0002566	Intestinal malrotation	6103	RPGR	ORPHA:244
HP:0002566	Intestinal malrotation	85452	CFAP74	ORPHA:244
HP:0002566	Intestinal malrotation	93233	ODAD1	ORPHA:244
HP:0002566	Intestinal malrotation	55130	ODAD2	ORPHA:244
HP:0002566	Intestinal malrotation	1767	DNAH5	ORPHA:244
HP:0002566	Intestinal malrotation	83861	RSPH3	ORPHA:244
HP:0002566	Intestinal malrotation	345643	MCIDAS	ORPHA:244
HP:0002566	Intestinal malrotation	56683	CFAP298	ORPHA:244
HP:0002566	Intestinal malrotation	79925	SPEF2	ORPHA:244
HP:0002566	Intestinal malrotation	10309	CCNO	ORPHA:244
HP:0002566	Intestinal malrotation	115399	LRRC56	ORPHA:244
HP:0002566	Intestinal malrotation	139212	DNAAF6	ORPHA:244
HP:0002566	Intestinal malrotation	123872	DNAAF1	ORPHA:244
HP:0002566	Intestinal malrotation	85016	CFAP300	ORPHA:244
HP:0002566	Intestinal malrotation	339829	CCDC39	ORPHA:244
HP:0002566	Intestinal malrotation	8701	DNAH11	ORPHA:244
HP:0002566	Intestinal malrotation	1770	DNAH9	ORPHA:244
HP:0002566	Intestinal malrotation	246176	GAS2L2	ORPHA:244
HP:0002566	Intestinal malrotation	9897	WASHC5	ORPHA:7
HP:0002566	Intestinal malrotation	57020	VPS35L	ORPHA:7
HP:0002566	Intestinal malrotation	56896	DPYSL5	ORPHA:7
HP:0002566	Intestinal malrotation	171023	ASXL1	OMIM:605039
HP:0002566	Intestinal malrotation	54903	MKS1	OMIM:249000
HP:0002566	Intestinal malrotation	2719	GPC3	OMIM:312870
HP:0002566	Intestinal malrotation	2239	GPC4	OMIM:312870
HP:0002566	Intestinal malrotation	2201	FBN2	ORPHA:115
HP:0002566	Intestinal malrotation	8085	KMT2D	OMIM:147920
HP:0002566	Intestinal malrotation	7403	KDM6A	OMIM:147920
HP:0002566	Intestinal malrotation	7020	TFAP2A	OMIM:113620
HP:0002566	Intestinal malrotation	2317	FLNB	ORPHA:1190
HP:0002566	Intestinal malrotation	29940	DSE	ORPHA:2953
HP:0002566	Intestinal malrotation	23522	KAT6B	OMIM:606170
HP:0002566	Intestinal malrotation	54361	WNT4	ORPHA:139466
HP:0002566	Intestinal malrotation	7468	NSD2	OMIM:194190
HP:0002566	Intestinal malrotation	10815	CPLX1	OMIM:194190
HP:0002566	Intestinal malrotation	1487	CTBP1	OMIM:194190
HP:0002566	Intestinal malrotation	53834	FGFRL1	OMIM:194190
HP:0002566	Intestinal malrotation	3954	LETM1	OMIM:194190
HP:0002566	Intestinal malrotation	1723	DHODH	OMIM:263750
HP:0005224	Rectal abscess	4688	NCF2	OMIM:233710
HP:0005224	Rectal abscess	81839	VANGL1	OMIM:600145
HP:0005224	Rectal abscess	3507	IGHM	OMIM:601495
HP:0005224	Rectal abscess	3689	ITGB2	OMIM:116920
HP:0005224	Rectal abscess	1536	CYBB	OMIM:306400
HP:0005224	Rectal abscess	5297	PI4KA	ORPHA:436252
HP:0005224	Rectal abscess	57217	TTC7A	ORPHA:436252
HP:0005224	Rectal abscess	653361	NCF1	OMIM:233700
HP:0005224	Rectal abscess	1535	CYBA	OMIM:233690
HP:0005224	Rectal abscess	5880	RAC2	OMIM:608203
HP:0002015	Dysphagia	1497	CTNS	OMIM:219800
HP:0002015	Dysphagia	1145	CHRNE	OMIM:608931
HP:0002015	Dysphagia	1145	CHRNE	OMIM:605809
HP:0002015	Dysphagia	2673	GFPT1	OMIM:608931
HP:0002015	Dysphagia	1410	CRYAB	OMIM:608810
HP:0002015	Dysphagia	1410	CRYAB	ORPHA:399058
HP:0002015	Dysphagia	4287	ATXN3	OMIM:109150
HP:0002015	Dysphagia	4287	ATXN3	OMIM:168600
HP:0002015	Dysphagia	4287	ATXN3	ORPHA:276238
HP:0002015	Dysphagia	4287	ATXN3	ORPHA:276244
HP:0002015	Dysphagia	4287	ATXN3	ORPHA:276241
HP:0002015	Dysphagia	55703	POLR3B	OMIM:614381
HP:0002015	Dysphagia	55703	POLR3B	OMIM:607694
HP:0002015	Dysphagia	26235	FBXL4	OMIM:615471
HP:0002015	Dysphagia	8106	PABPN1	ORPHA:270
HP:0002015	Dysphagia	8106	PABPN1	OMIM:164300
HP:0002015	Dysphagia	1144	CHRND	OMIM:616321
HP:0002015	Dysphagia	1144	CHRND	OMIM:616323
HP:0002015	Dysphagia	4750	NEK1	OMIM:617892
HP:0002015	Dysphagia	4750	NEK1	ORPHA:803
HP:0002015	Dysphagia	23446	SLC44A1	OMIM:618868
HP:0002015	Dysphagia	4593	MUSK	OMIM:616325
HP:0002015	Dysphagia	10973	ASCC3	OMIM:620700
HP:0002015	Dysphagia	2720	GLB1	OMIM:230600
HP:0002015	Dysphagia	1134	CHRNA1	OMIM:608930
HP:0002015	Dysphagia	1134	CHRNA1	OMIM:601462
HP:0002015	Dysphagia	57679	ALS2	ORPHA:247604
HP:0002015	Dysphagia	57679	ALS2	OMIM:205100
HP:0002015	Dysphagia	57679	ALS2	ORPHA:300605
HP:0002015	Dysphagia	57679	ALS2	OMIM:607225
HP:0002015	Dysphagia	57679	ALS2	OMIM:606353
HP:0002015	Dysphagia	11160	ERLIN2	ORPHA:247604
HP:0002015	Dysphagia	11160	ERLIN2	ORPHA:280384
HP:0002015	Dysphagia	11160	ERLIN2	ORPHA:209951
HP:0002015	Dysphagia	9499	MYOT	ORPHA:266
HP:0002015	Dysphagia	5339	PLEC	ORPHA:254361
HP:0002015	Dysphagia	6687	SPG7	ORPHA:99013
HP:0002015	Dysphagia	6687	SPG7	OMIM:607259
HP:0002015	Dysphagia	6687	SPG7	ORPHA:35689
HP:0002015	Dysphagia	8291	DYSF	ORPHA:268
HP:0002015	Dysphagia	4535	MT-ND1	ORPHA:255210
HP:0002015	Dysphagia	4536	MT-ND2	ORPHA:255210
HP:0002015	Dysphagia	4537	MT-ND3	ORPHA:255210
HP:0002015	Dysphagia	4538	MT-ND4	ORPHA:255210
HP:0002015	Dysphagia	4567	MT-TL1	ORPHA:255210
HP:0002015	Dysphagia	4567	MT-TL1	ORPHA:480
HP:0002015	Dysphagia	4578	MT-TW	ORPHA:255210
HP:0002015	Dysphagia	4577	MT-TV	ORPHA:255210
HP:0002015	Dysphagia	4508	MT-ATP6	ORPHA:255210
HP:0002015	Dysphagia	4508	MT-ATP6	ORPHA:225154
HP:0002015	Dysphagia	4540	MT-ND5	ORPHA:255210
HP:0002015	Dysphagia	4541	MT-ND6	ORPHA:255210
HP:0002015	Dysphagia	4566	MT-TK	ORPHA:255210
HP:0002015	Dysphagia	4312	MMP1	ORPHA:79408
HP:0002015	Dysphagia	1294	COL7A1	ORPHA:79408
HP:0002015	Dysphagia	1294	COL7A1	OMIM:226600
HP:0002015	Dysphagia	1294	COL7A1	ORPHA:89842
HP:0002015	Dysphagia	3074	HEXB	ORPHA:309162
HP:0002015	Dysphagia	3074	HEXB	ORPHA:309169
HP:0002015	Dysphagia	79577	CDC73	ORPHA:143
HP:0002015	Dysphagia	79577	CDC73	ORPHA:99880
HP:0002015	Dysphagia	65993	MRPS34	OMIM:617664
HP:0002015	Dysphagia	6536	SLC6A9	OMIM:617301
HP:0002015	Dysphagia	1644	DDC	ORPHA:35708
HP:0002015	Dysphagia	10528	NOP56	OMIM:614153
HP:0002015	Dysphagia	10528	NOP56	ORPHA:276198
HP:0002015	Dysphagia	101060691	NUTM2B-AS1	OMIM:618637
HP:0002015	Dysphagia	1841	DTYMK	OMIM:619847
HP:0002015	Dysphagia	790	CAD	OMIM:616457
HP:0002015	Dysphagia	84466	MEGF10	OMIM:614399
HP:0002015	Dysphagia	84466	MEGF10	OMIM:620249
HP:0002015	Dysphagia	51112	TRAPPC12	OMIM:617669
HP:0002015	Dysphagia	51112	TRAPPC12	ORPHA:500144
HP:0002015	Dysphagia	55636	CHD7	ORPHA:138
HP:0002015	Dysphagia	55636	CHD7	OMIM:214800
HP:0002015	Dysphagia	9723	SEMA3E	ORPHA:138
HP:0002015	Dysphagia	3908	LAMA2	ORPHA:258
HP:0002015	Dysphagia	5189	PEX1	OMIM:214100
HP:0002015	Dysphagia	5428	POLG	ORPHA:298
HP:0002015	Dysphagia	5428	POLG	ORPHA:254892
HP:0002015	Dysphagia	5428	POLG	OMIM:258450
HP:0002015	Dysphagia	5428	POLG	ORPHA:254886
HP:0002015	Dysphagia	5428	POLG	OMIM:157640
HP:0002015	Dysphagia	5428	POLG	ORPHA:94125
HP:0002015	Dysphagia	5428	POLG	OMIM:607459
HP:0002015	Dysphagia	5428	POLG	OMIM:603041
HP:0002015	Dysphagia	1890	TYMP	ORPHA:298
HP:0002015	Dysphagia	1890	TYMP	OMIM:603041
HP:0002015	Dysphagia	3980	LIG3	ORPHA:298
HP:0002015	Dysphagia	3980	LIG3	OMIM:619780
HP:0002015	Dysphagia	50484	RRM2B	ORPHA:298
HP:0002015	Dysphagia	50484	RRM2B	OMIM:613077
HP:0002015	Dysphagia	50484	RRM2B	ORPHA:480
HP:0002015	Dysphagia	50484	RRM2B	ORPHA:254892
HP:0002015	Dysphagia	50484	RRM2B	ORPHA:329336
HP:0002015	Dysphagia	8575	PRKRA	ORPHA:210571
HP:0002015	Dysphagia	8575	PRKRA	OMIM:612067
HP:0002015	Dysphagia	79147	FKRP	OMIM:606612
HP:0002015	Dysphagia	348	APOE	OMIM:607822
HP:0002015	Dysphagia	5663	PSEN1	OMIM:607822
HP:0002015	Dysphagia	215	ABCD1	ORPHA:139396
HP:0002015	Dysphagia	25885	POLR1A	OMIM:616462
HP:0002015	Dysphagia	7343	UBTF	OMIM:617672
HP:0002015	Dysphagia	7343	UBTF	ORPHA:500180
HP:0002015	Dysphagia	10352	WARS2	OMIM:619738
HP:0002015	Dysphagia	10352	WARS2	ORPHA:572798
HP:0002015	Dysphagia	3064	HTT	OMIM:617435
HP:0002015	Dysphagia	10939	AFG3L2	ORPHA:313772
HP:0002015	Dysphagia	10939	AFG3L2	OMIM:614487
HP:0002015	Dysphagia	83480	PUS3	ORPHA:488627
HP:0002015	Dysphagia	5621	PRNP	OMIM:600072
HP:0002015	Dysphagia	5621	PRNP	ORPHA:466
HP:0002015	Dysphagia	10049	DNAJB6	ORPHA:34516
HP:0002015	Dysphagia	10049	DNAJB6	OMIM:603511
HP:0002015	Dysphagia	4620	MYH2	OMIM:605637
HP:0002015	Dysphagia	857	CAV1	OMIM:606721
HP:0002015	Dysphagia	857	CAV1	ORPHA:220402
HP:0002015	Dysphagia	857	CAV1	ORPHA:220393
HP:0002015	Dysphagia	10935	PRDX3	OMIM:619862
HP:0002015	Dysphagia	4297	KMT2A	ORPHA:319182
HP:0002015	Dysphagia	246243	RNASEH1	OMIM:616479
HP:0002015	Dysphagia	246243	RNASEH1	ORPHA:329336
HP:0002015	Dysphagia	80208	SPG11	ORPHA:2822
HP:0002015	Dysphagia	80208	SPG11	ORPHA:300605
HP:0002015	Dysphagia	80208	SPG11	OMIM:604360
HP:0002015	Dysphagia	28514	DLL1	ORPHA:93926
HP:0002015	Dysphagia	28514	DLL1	ORPHA:93924
HP:0002015	Dysphagia	28514	DLL1	ORPHA:93925
HP:0002015	Dysphagia	28514	DLL1	ORPHA:280195
HP:0002015	Dysphagia	28514	DLL1	ORPHA:220386
HP:0002015	Dysphagia	2253	FGF8	ORPHA:93926
HP:0002015	Dysphagia	2253	FGF8	ORPHA:93924
HP:0002015	Dysphagia	2253	FGF8	ORPHA:93925
HP:0002015	Dysphagia	2253	FGF8	ORPHA:280195
HP:0002015	Dysphagia	2253	FGF8	ORPHA:220386
HP:0002015	Dysphagia	6496	SIX3	ORPHA:93926
HP:0002015	Dysphagia	6496	SIX3	ORPHA:93924
HP:0002015	Dysphagia	6496	SIX3	ORPHA:93925
HP:0002015	Dysphagia	6496	SIX3	ORPHA:280195
HP:0002015	Dysphagia	6496	SIX3	ORPHA:220386
HP:0002015	Dysphagia	7050	TGIF1	ORPHA:93926
HP:0002015	Dysphagia	7050	TGIF1	ORPHA:93924
HP:0002015	Dysphagia	7050	TGIF1	ORPHA:93925
HP:0002015	Dysphagia	7050	TGIF1	ORPHA:280195
HP:0002015	Dysphagia	7050	TGIF1	ORPHA:220386
HP:0002015	Dysphagia	4838	NODAL	ORPHA:93926
HP:0002015	Dysphagia	4838	NODAL	ORPHA:93924
HP:0002015	Dysphagia	4838	NODAL	ORPHA:93925
HP:0002015	Dysphagia	4838	NODAL	ORPHA:280195
HP:0002015	Dysphagia	4838	NODAL	ORPHA:220386
HP:0002015	Dysphagia	6469	SHH	ORPHA:93926
HP:0002015	Dysphagia	6469	SHH	ORPHA:93924
HP:0002015	Dysphagia	6469	SHH	ORPHA:93925
HP:0002015	Dysphagia	6469	SHH	ORPHA:280195
HP:0002015	Dysphagia	6469	SHH	ORPHA:220386
HP:0002015	Dysphagia	7546	ZIC2	ORPHA:93926
HP:0002015	Dysphagia	7546	ZIC2	ORPHA:93924
HP:0002015	Dysphagia	7546	ZIC2	ORPHA:93925
HP:0002015	Dysphagia	7546	ZIC2	ORPHA:280195
HP:0002015	Dysphagia	7546	ZIC2	ORPHA:220386
HP:0002015	Dysphagia	6491	STIL	ORPHA:93926
HP:0002015	Dysphagia	6491	STIL	ORPHA:93924
HP:0002015	Dysphagia	6491	STIL	ORPHA:93925
HP:0002015	Dysphagia	6491	STIL	ORPHA:280195
HP:0002015	Dysphagia	6491	STIL	ORPHA:220386
HP:0002015	Dysphagia	2619	GAS1	ORPHA:93926
HP:0002015	Dysphagia	2619	GAS1	ORPHA:93924
HP:0002015	Dysphagia	2619	GAS1	ORPHA:93925
HP:0002015	Dysphagia	2619	GAS1	ORPHA:280195
HP:0002015	Dysphagia	2619	GAS1	ORPHA:220386
HP:0002015	Dysphagia	84976	DISP1	ORPHA:93926
HP:0002015	Dysphagia	84976	DISP1	ORPHA:93924
HP:0002015	Dysphagia	84976	DISP1	ORPHA:93925
HP:0002015	Dysphagia	84976	DISP1	ORPHA:280195
HP:0002015	Dysphagia	84976	DISP1	ORPHA:220386
HP:0002015	Dysphagia	2736	GLI2	ORPHA:93926
HP:0002015	Dysphagia	2736	GLI2	ORPHA:93924
HP:0002015	Dysphagia	2736	GLI2	ORPHA:93925
HP:0002015	Dysphagia	2736	GLI2	ORPHA:280195
HP:0002015	Dysphagia	2736	GLI2	ORPHA:220386
HP:0002015	Dysphagia	8928	FOXH1	ORPHA:93926
HP:0002015	Dysphagia	8928	FOXH1	ORPHA:93924
HP:0002015	Dysphagia	8928	FOXH1	ORPHA:93925
HP:0002015	Dysphagia	8928	FOXH1	ORPHA:280195
HP:0002015	Dysphagia	8928	FOXH1	ORPHA:220386
HP:0002015	Dysphagia	6997	CRIPTO	ORPHA:93926
HP:0002015	Dysphagia	6997	CRIPTO	ORPHA:93924
HP:0002015	Dysphagia	6997	CRIPTO	ORPHA:93925
HP:0002015	Dysphagia	6997	CRIPTO	ORPHA:280195
HP:0002015	Dysphagia	6997	CRIPTO	ORPHA:220386
HP:0002015	Dysphagia	5727	PTCH1	ORPHA:93926
HP:0002015	Dysphagia	5727	PTCH1	ORPHA:93924
HP:0002015	Dysphagia	5727	PTCH1	ORPHA:93925
HP:0002015	Dysphagia	5727	PTCH1	ORPHA:280195
HP:0002015	Dysphagia	5727	PTCH1	ORPHA:220386
HP:0002015	Dysphagia	50937	CDON	ORPHA:93926
HP:0002015	Dysphagia	50937	CDON	ORPHA:93924
HP:0002015	Dysphagia	50937	CDON	ORPHA:93925
HP:0002015	Dysphagia	50937	CDON	ORPHA:280195
HP:0002015	Dysphagia	50937	CDON	ORPHA:220386
HP:0002015	Dysphagia	2783	GNB2	OMIM:619503
HP:0002015	Dysphagia	2260	FGFR1	ORPHA:93924
HP:0002015	Dysphagia	2260	FGFR1	ORPHA:220386
HP:0002015	Dysphagia	23007	PLCH1	ORPHA:93925
HP:0002015	Dysphagia	10735	STAG2	ORPHA:93925
HP:0002015	Dysphagia	10735	STAG2	ORPHA:220386
HP:0002015	Dysphagia	950	SCARB2	OMIM:254900
HP:0002015	Dysphagia	26834	RNU4-2	OMIM:620851
HP:0002015	Dysphagia	9897	WASHC5	OMIM:603563
HP:0002015	Dysphagia	8398	PLA2G6	ORPHA:199351
HP:0002015	Dysphagia	8398	PLA2G6	OMIM:610217
HP:0002015	Dysphagia	8622	PDE8B	ORPHA:228169
HP:0002015	Dysphagia	253738	EBF3	OMIM:617330
HP:0002015	Dysphagia	3572	IL6ST	OMIM:619751
HP:0002015	Dysphagia	2911	GRM1	OMIM:617691
HP:0002015	Dysphagia	55773	TBC1D23	OMIM:617695
HP:0002015	Dysphagia	23259	DDHD2	OMIM:615033
HP:0002015	Dysphagia	23259	DDHD2	ORPHA:320380
HP:0002015	Dysphagia	54902	TTC19	OMIM:615157
HP:0002015	Dysphagia	391356	PTRHD1	OMIM:620747
HP:0002015	Dysphagia	2643	GCH1	OMIM:233910
HP:0002015	Dysphagia	55823	VPS11	OMIM:619637
HP:0002015	Dysphagia	5590	PRKCZ	ORPHA:1606
HP:0002015	Dysphagia	2563	GABRD	ORPHA:1606
HP:0002015	Dysphagia	23013	SPEN	ORPHA:1606
HP:0002015	Dysphagia	23013	SPEN	OMIM:619312
HP:0002015	Dysphagia	8510	MMP23B	ORPHA:1606
HP:0002015	Dysphagia	7798	LUZP1	ORPHA:1606
HP:0002015	Dysphagia	6497	SKI	ORPHA:1606
HP:0002015	Dysphagia	10630	PDPN	ORPHA:1606
HP:0002015	Dysphagia	3339	HSPG2	ORPHA:1606
HP:0002015	Dysphagia	10277	UBE4B	ORPHA:1606
HP:0002015	Dysphagia	8514	KCNAB2	ORPHA:1606
HP:0002015	Dysphagia	473	RERE	ORPHA:1606
HP:0002015	Dysphagia	473	RERE	ORPHA:494344
HP:0002015	Dysphagia	63976	PRDM16	ORPHA:1606
HP:0002015	Dysphagia	54897	CASZ1	ORPHA:1606
HP:0002015	Dysphagia	8659	ALDH4A1	ORPHA:79101
HP:0002015	Dysphagia	1180	CLCN1	OMIM:255700
HP:0002015	Dysphagia	1180	CLCN1	ORPHA:614
HP:0002015	Dysphagia	58	ACTA1	OMIM:161800
HP:0002015	Dysphagia	58	ACTA1	OMIM:620265
HP:0002015	Dysphagia	58	ACTA1	ORPHA:171433
HP:0002015	Dysphagia	58	ACTA1	ORPHA:171430
HP:0002015	Dysphagia	58	ACTA1	OMIM:620278
HP:0002015	Dysphagia	58	ACTA1	ORPHA:2020
HP:0002015	Dysphagia	5860	QDPR	ORPHA:226
HP:0002015	Dysphagia	5860	QDPR	OMIM:261630
HP:0002015	Dysphagia	93986	FOXP2	ORPHA:251061
HP:0002015	Dysphagia	7750	ZMYM2	OMIM:619522
HP:0002015	Dysphagia	56947	MFF	ORPHA:485421
HP:0002015	Dysphagia	56947	MFF	OMIM:617086
HP:0002015	Dysphagia	4076	CAPRIN1	OMIM:620636
HP:0002015	Dysphagia	10342	TFG	ORPHA:90117
HP:0002015	Dysphagia	57462	MYORG	OMIM:618317
HP:0002015	Dysphagia	9562	MINPP1	OMIM:619527
HP:0002015	Dysphagia	540	ATP7B	OMIM:277900
HP:0002015	Dysphagia	56652	TWNK	OMIM:271245
HP:0002015	Dysphagia	56652	TWNK	ORPHA:254892
HP:0002015	Dysphagia	56652	TWNK	OMIM:609286
HP:0002015	Dysphagia	56652	TWNK	OMIM:607459
HP:0002015	Dysphagia	23314	SATB2	ORPHA:576283
HP:0002015	Dysphagia	4626	MYH8	OMIM:158300
HP:0002015	Dysphagia	4854	NOTCH3	ORPHA:136
HP:0002015	Dysphagia	57724	EPG5	OMIM:242840
HP:0002015	Dysphagia	1436	CSF1R	OMIM:221820
HP:0002015	Dysphagia	5354	PLP1	OMIM:312080
HP:0002015	Dysphagia	55612	FERMT1	ORPHA:2908
HP:0002015	Dysphagia	55612	FERMT1	OMIM:173650
HP:0002015	Dysphagia	6843	VAMP1	OMIM:618323
HP:0002015	Dysphagia	6843	VAMP1	ORPHA:251282
HP:0002015	Dysphagia	6843	VAMP1	OMIM:108600
HP:0002015	Dysphagia	6843	VAMP1	ORPHA:98914
HP:0002015	Dysphagia	4123	MAN2C1	OMIM:619775
HP:0002015	Dysphagia	3798	KIF5A	OMIM:617235
HP:0002015	Dysphagia	339855	KY	OMIM:617114
HP:0002015	Dysphagia	339855	KY	ORPHA:496689
HP:0002015	Dysphagia	79977	GRHL2	OMIM:616029
HP:0002015	Dysphagia	6240	RRM1	OMIM:620647
HP:0002015	Dysphagia	7994	KAT6A	OMIM:616268
HP:0002015	Dysphagia	23499	MACF1	OMIM:618325
HP:0002015	Dysphagia	23499	MACF1	ORPHA:572013
HP:0002015	Dysphagia	23219	FBXO28	OMIM:619777
HP:0002015	Dysphagia	2055	CLN8	ORPHA:1947
HP:0002015	Dysphagia	51322	WAC	ORPHA:466950
HP:0002015	Dysphagia	5837	PYGM	ORPHA:368
HP:0002015	Dysphagia	2512	FTL	ORPHA:157846
HP:0002015	Dysphagia	2512	FTL	OMIM:606159
HP:0002015	Dysphagia	2629	GBA1	ORPHA:77260
HP:0002015	Dysphagia	2629	GBA1	OMIM:230900
HP:0002015	Dysphagia	2629	GBA1	OMIM:168600
HP:0002015	Dysphagia	2629	GBA1	OMIM:608013
HP:0002015	Dysphagia	2629	GBA1	ORPHA:411602
HP:0002015	Dysphagia	10533	ATG7	OMIM:619422
HP:0002015	Dysphagia	4509	MT-ATP8	ORPHA:480
HP:0002015	Dysphagia	51117	COQ4	OMIM:616276
HP:0002015	Dysphagia	120	ADD3	OMIM:617008
HP:0002015	Dysphagia	171546	SPTSSA	OMIM:620416
HP:0002015	Dysphagia	171546	SPTSSA	OMIM:620417
HP:0002015	Dysphagia	27429	HTRA2	OMIM:617248
HP:0002015	Dysphagia	5081	PAX7	OMIM:618578
HP:0002015	Dysphagia	1674	DES	OMIM:181400
HP:0002015	Dysphagia	6792	CDKL5	ORPHA:1934
HP:0002015	Dysphagia	3736	KCNA1	ORPHA:1934
HP:0002015	Dysphagia	9091	PIGQ	ORPHA:1934
HP:0002015	Dysphagia	140679	SLC32A1	ORPHA:1934
HP:0002015	Dysphagia	2775	GNAO1	ORPHA:1934
HP:0002015	Dysphagia	2775	GNAO1	OMIM:617493
HP:0002015	Dysphagia	81603	TRIM8	ORPHA:1934
HP:0002015	Dysphagia	2902	GRIN1	ORPHA:1934
HP:0002015	Dysphagia	79751	SLC25A22	ORPHA:1934
HP:0002015	Dysphagia	150094	SIK1	ORPHA:1934
HP:0002015	Dysphagia	8573	CASK	ORPHA:1934
HP:0002015	Dysphagia	23312	DMXL2	ORPHA:1934
HP:0002015	Dysphagia	2917	GRM7	ORPHA:1934
HP:0002015	Dysphagia	2917	GRM7	OMIM:618922
HP:0002015	Dysphagia	170302	ARX	ORPHA:1934
HP:0002015	Dysphagia	170302	ARX	OMIM:308350
HP:0002015	Dysphagia	11284	PNKP	ORPHA:1934
HP:0002015	Dysphagia	6326	SCN2A	ORPHA:1934
HP:0002015	Dysphagia	51227	PIGP	ORPHA:1934
HP:0002015	Dysphagia	6324	SCN1B	ORPHA:1934
HP:0002015	Dysphagia	4761	NEUROD2	ORPHA:1934
HP:0002015	Dysphagia	4761	NEUROD2	OMIM:618374
HP:0002015	Dysphagia	4001	LMNB1	ORPHA:99027
HP:0002015	Dysphagia	389827	MYMK	OMIM:254940
HP:0002015	Dysphagia	2639	GCDH	ORPHA:25
HP:0002015	Dysphagia	291	SLC25A4	ORPHA:254892
HP:0002015	Dysphagia	11232	POLG2	ORPHA:254892
HP:0002015	Dysphagia	9361	LONP1	OMIM:600373
HP:0002015	Dysphagia	4487	MSX1	ORPHA:141291
HP:0002015	Dysphagia	5818	NECTIN1	ORPHA:141291
HP:0002015	Dysphagia	8626	TP63	ORPHA:141291
HP:0002015	Dysphagia	3664	IRF6	ORPHA:141291
HP:0002015	Dysphagia	353116	RILPL1	OMIM:619790
HP:0002015	Dysphagia	23111	SPART	OMIM:275900
HP:0002015	Dysphagia	23111	SPART	ORPHA:101000
HP:0002015	Dysphagia	4137	MAPT	OMIM:601104
HP:0002015	Dysphagia	4137	MAPT	ORPHA:240112
HP:0002015	Dysphagia	4137	MAPT	ORPHA:240103
HP:0002015	Dysphagia	4137	MAPT	OMIM:168600
HP:0002015	Dysphagia	1499	CTNNB1	OMIM:615075
HP:0002015	Dysphagia	56896	DPYSL5	OMIM:619435
HP:0002015	Dysphagia	54892	NCAPG2	OMIM:618460
HP:0002015	Dysphagia	1859	DYRK1A	ORPHA:268261
HP:0002015	Dysphagia	2495	FTH1	OMIM:620669
HP:0002015	Dysphagia	53371	NUP54	OMIM:620427
HP:0002015	Dysphagia	53371	NUP54	ORPHA:225154
HP:0002015	Dysphagia	79912	PYROXD1	OMIM:617258
HP:0002015	Dysphagia	4719	NDUFS1	OMIM:618226
HP:0002015	Dysphagia	79903	NAA60	OMIM:620786
HP:0002015	Dysphagia	11267	SNF8	OMIM:620784
HP:0002015	Dysphagia	11267	SNF8	OMIM:620783
HP:0002015	Dysphagia	4703	NEB	OMIM:256030
HP:0002015	Dysphagia	4703	NEB	ORPHA:171433
HP:0002015	Dysphagia	4703	NEB	ORPHA:171430
HP:0002015	Dysphagia	1235	CCR6	ORPHA:220402
HP:0002015	Dysphagia	1235	CCR6	ORPHA:220393
HP:0002015	Dysphagia	79932	KIAA0319L	ORPHA:220402
HP:0002015	Dysphagia	1490	CCN2	ORPHA:220402
HP:0002015	Dysphagia	1490	CCN2	ORPHA:220393
HP:0002015	Dysphagia	3663	IRF5	ORPHA:220402
HP:0002015	Dysphagia	3663	IRF5	ORPHA:220393
HP:0002015	Dysphagia	3123	HLA-DRB1	ORPHA:220402
HP:0002015	Dysphagia	3123	HLA-DRB1	ORPHA:220393
HP:0002015	Dysphagia	91942	NDUFAF2	OMIM:618233
HP:0002015	Dysphagia	60482	SLC5A7	OMIM:617143
HP:0002015	Dysphagia	60482	SLC5A7	ORPHA:98914
HP:0002015	Dysphagia	7084	TK2	ORPHA:254886
HP:0002015	Dysphagia	7084	TK2	ORPHA:254875
HP:0002015	Dysphagia	7084	TK2	OMIM:617069
HP:0002015	Dysphagia	81790	RNF170	OMIM:619686
HP:0002015	Dysphagia	84909	AOPEP	OMIM:619565
HP:0002015	Dysphagia	478	ATP1A3	OMIM:601338
HP:0002015	Dysphagia	478	ATP1A3	OMIM:128235
HP:0002015	Dysphagia	478	ATP1A3	ORPHA:1171
HP:0002015	Dysphagia	478	ATP1A3	ORPHA:2131
HP:0002015	Dysphagia	478	ATP1A3	ORPHA:71517
HP:0002015	Dysphagia	283989	TSEN54	OMIM:225753
HP:0002015	Dysphagia	283989	TSEN54	OMIM:277470
HP:0002015	Dysphagia	25814	ATXN10	OMIM:603516
HP:0002015	Dysphagia	5649	RELN	ORPHA:89844
HP:0002015	Dysphagia	10300	KATNB1	ORPHA:89844
HP:0002015	Dysphagia	54820	NDE1	ORPHA:89844
HP:0002015	Dysphagia	4722	NDUFS3	OMIM:618230
HP:0002015	Dysphagia	3930	LBR	ORPHA:779
HP:0002015	Dysphagia	710	SERPING1	ORPHA:100050
HP:0002015	Dysphagia	1760	DMPK	OMIM:160900
HP:0002015	Dysphagia	1760	DMPK	ORPHA:589821
HP:0002015	Dysphagia	387119	CEP85L	ORPHA:572013
HP:0002015	Dysphagia	6904	TBCD	ORPHA:496641
HP:0002015	Dysphagia	427	ASAH1	OMIM:159950
HP:0002015	Dysphagia	427	ASAH1	ORPHA:2590
HP:0002015	Dysphagia	10059	DNM1L	ORPHA:98673
HP:0002015	Dysphagia	4976	OPA1	ORPHA:98673
HP:0002015	Dysphagia	4976	OPA1	OMIM:210000
HP:0002015	Dysphagia	7337	UBE3A	ORPHA:98794
HP:0002015	Dysphagia	7337	UBE3A	ORPHA:98795
HP:0002015	Dysphagia	7337	UBE3A	ORPHA:411511
HP:0002015	Dysphagia	4948	OCA2	ORPHA:98794
HP:0002015	Dysphagia	5980	REV3L	ORPHA:570
HP:0002015	Dysphagia	23129	PLXND1	ORPHA:570
HP:0002015	Dysphagia	65055	REEP1	ORPHA:101011
HP:0002015	Dysphagia	65055	REEP1	OMIM:610250
HP:0002015	Dysphagia	351	APP	ORPHA:324708
HP:0002015	Dysphagia	56915	EXOSC5	OMIM:619576
HP:0002015	Dysphagia	51132	RLIM	OMIM:300978
HP:0002015	Dysphagia	10588	MTHFS	OMIM:618367
HP:0002015	Dysphagia	4704	NDUFA9	OMIM:618247
HP:0002015	Dysphagia	29978	UBQLN2	OMIM:300857
HP:0002015	Dysphagia	29978	UBQLN2	ORPHA:803
HP:0002015	Dysphagia	8260	NAA10	OMIM:300855
HP:0002015	Dysphagia	182	JAG1	OMIM:619574
HP:0002015	Dysphagia	7170	TPM3	OMIM:609284
HP:0002015	Dysphagia	7170	TPM3	ORPHA:171433
HP:0002015	Dysphagia	7170	TPM3	ORPHA:2020
HP:0002015	Dysphagia	7170	TPM3	OMIM:255310
HP:0002015	Dysphagia	7169	TPM2	OMIM:609285
HP:0002015	Dysphagia	7169	TPM2	ORPHA:2020
HP:0002015	Dysphagia	54834	GDAP2	OMIM:618369
HP:0002015	Dysphagia	51704	GPRC5B	OMIM:620447
HP:0002015	Dysphagia	361	AQP4	OMIM:620448
HP:0002015	Dysphagia	4864	NPC1	OMIM:257220
HP:0002015	Dysphagia	5277	PIGA	ORPHA:447
HP:0002015	Dysphagia	2131	EXT1	ORPHA:321
HP:0002015	Dysphagia	2132	EXT2	ORPHA:321
HP:0002015	Dysphagia	6329	SCN4A	ORPHA:684
HP:0002015	Dysphagia	6329	SCN4A	ORPHA:99735
HP:0002015	Dysphagia	6329	SCN4A	ORPHA:99736
HP:0002015	Dysphagia	5805	PTS	ORPHA:13
HP:0002015	Dysphagia	5805	PTS	OMIM:261640
HP:0002015	Dysphagia	22827	PUF60	ORPHA:508488
HP:0002015	Dysphagia	51102	MECR	OMIM:617282
HP:0002015	Dysphagia	51102	MECR	ORPHA:508093
HP:0002015	Dysphagia	51324	SPG21	ORPHA:101001
HP:0002015	Dysphagia	51324	SPG21	OMIM:248900
HP:0002015	Dysphagia	5631	PRPS1	OMIM:301835
HP:0002015	Dysphagia	3977	LIFR	OMIM:601559
HP:0002015	Dysphagia	2906	GRIN2D	OMIM:617162
HP:0002015	Dysphagia	127833	SYT2	OMIM:619461
HP:0002015	Dysphagia	127833	SYT2	ORPHA:98914
HP:0002015	Dysphagia	146206	CARMIL2	OMIM:618131
HP:0002015	Dysphagia	1822	ATN1	OMIM:618494
HP:0002015	Dysphagia	2705	GJB1	OMIM:302800
HP:0002015	Dysphagia	4700	NDUFA6	OMIM:618253
HP:0002015	Dysphagia	51305	KCNK9	ORPHA:166108
HP:0002015	Dysphagia	51305	KCNK9	OMIM:612292
HP:0002015	Dysphagia	1200	TPP1	OMIM:609270
HP:0002015	Dysphagia	6304	SATB1	OMIM:619229
HP:0002015	Dysphagia	1974	EIF4A2	OMIM:620455
HP:0002015	Dysphagia	220296	HEPACAM	OMIM:613925
HP:0002015	Dysphagia	29967	LRP12	OMIM:620452
HP:0002015	Dysphagia	29967	LRP12	OMIM:164310
HP:0002015	Dysphagia	26040	SETBP1	ORPHA:798
HP:0002015	Dysphagia	3028	HSD17B10	ORPHA:391428
HP:0002015	Dysphagia	4629	MYH11	OMIM:619350
HP:0002015	Dysphagia	9757	KMT2B	ORPHA:589618
HP:0002015	Dysphagia	6390	SDHB	ORPHA:97286
HP:0002015	Dysphagia	6390	SDHB	ORPHA:44890
HP:0002015	Dysphagia	6390	SDHB	OMIM:606764
HP:0002015	Dysphagia	6391	SDHC	ORPHA:97286
HP:0002015	Dysphagia	6391	SDHC	ORPHA:44890
HP:0002015	Dysphagia	6391	SDHC	OMIM:606764
HP:0002015	Dysphagia	6392	SDHD	ORPHA:97286
HP:0002015	Dysphagia	55975	KLHL7	OMIM:617055
HP:0002015	Dysphagia	55697	VAC14	OMIM:617054
HP:0002015	Dysphagia	10526	IPO8	OMIM:619472
HP:0002015	Dysphagia	100996717	NOTCH2NLC	OMIM:619473
HP:0002015	Dysphagia	2318	FLNC	ORPHA:63273
HP:0002015	Dysphagia	7345	UCHL1	OMIM:620221
HP:0002015	Dysphagia	3181	HNRNPA2B1	OMIM:620460
HP:0002015	Dysphagia	283446	MYO1H	OMIM:619482
HP:0002015	Dysphagia	7204	TRIO	OMIM:617061
HP:0002015	Dysphagia	8567	MADD	OMIM:619004
HP:0002015	Dysphagia	29123	ANKRD11	ORPHA:261250
HP:0002015	Dysphagia	23230	VPS13A	OMIM:200150
HP:0002015	Dysphagia	23230	VPS13A	ORPHA:2388
HP:0002015	Dysphagia	498	ATP5F1A	OMIM:620358
HP:0002015	Dysphagia	2799	GNS	OMIM:252940
HP:0002015	Dysphagia	673	BRAF	OMIM:613706
HP:0002015	Dysphagia	1893	ECM1	ORPHA:530
HP:0002015	Dysphagia	1716	DGUOK	OMIM:617070
HP:0002015	Dysphagia	1716	DGUOK	ORPHA:329314
HP:0002015	Dysphagia	23636	NUP62	ORPHA:225154
HP:0002015	Dysphagia	23636	NUP62	OMIM:271930
HP:0002015	Dysphagia	103	ADAR	ORPHA:225154
HP:0002015	Dysphagia	72	ACTG2	OMIM:155310
HP:0002015	Dysphagia	10479	SLC9A6	ORPHA:85278
HP:0002015	Dysphagia	10479	SLC9A6	OMIM:300243
HP:0002015	Dysphagia	6389	SDHA	ORPHA:44890
HP:0002015	Dysphagia	5156	PDGFRA	ORPHA:44890
HP:0002015	Dysphagia	3815	KIT	ORPHA:44890
HP:0002015	Dysphagia	3815	KIT	OMIM:606764
HP:0002015	Dysphagia	1984	EIF5A	OMIM:619376
HP:0002015	Dysphagia	10273	STUB1	ORPHA:412057
HP:0002015	Dysphagia	10273	STUB1	OMIM:618093
HP:0002015	Dysphagia	7415	VCP	OMIM:613954
HP:0002015	Dysphagia	7415	VCP	ORPHA:275872
HP:0002015	Dysphagia	7415	VCP	ORPHA:803
HP:0002015	Dysphagia	79651	RHBDF2	ORPHA:2198
HP:0002015	Dysphagia	138050	HGSNAT	OMIM:252930
HP:0002015	Dysphagia	84081	NSRP1	OMIM:620001
HP:0002015	Dysphagia	5216	PFN1	OMIM:614808
HP:0002015	Dysphagia	5216	PFN1	ORPHA:803
HP:0002015	Dysphagia	1678	TIMM8A	ORPHA:52368
HP:0002015	Dysphagia	1678	TIMM8A	OMIM:304700
HP:0002015	Dysphagia	4914	NTRK1	ORPHA:642
HP:0002015	Dysphagia	64432	MRPS25	OMIM:619025
HP:0002015	Dysphagia	84842	HPDL	OMIM:619027
HP:0002015	Dysphagia	132001	TAMM41	OMIM:620139
HP:0002015	Dysphagia	3708	ITPR1	OMIM:206700
HP:0002015	Dysphagia	3708	ITPR1	OMIM:117360
HP:0002015	Dysphagia	3708	ITPR1	OMIM:606658
HP:0002015	Dysphagia	126	ADH1C	OMIM:168600
HP:0002015	Dysphagia	4576	MT-TT	OMIM:168600
HP:0002015	Dysphagia	9627	SNCAIP	OMIM:168600
HP:0002015	Dysphagia	6908	TBP	OMIM:168600
HP:0002015	Dysphagia	6908	TBP	OMIM:607136
HP:0002015	Dysphagia	4929	NR4A2	OMIM:168600
HP:0002015	Dysphagia	6311	ATXN2	OMIM:168600
HP:0002015	Dysphagia	6311	ATXN2	OMIM:183090
HP:0002015	Dysphagia	6311	ATXN2	ORPHA:803
HP:0002015	Dysphagia	6315	ATXN8OS	OMIM:168600
HP:0002015	Dysphagia	6315	ATXN8OS	ORPHA:98760
HP:0002015	Dysphagia	6315	ATXN8OS	OMIM:608768
HP:0002015	Dysphagia	4771	NF2	ORPHA:637
HP:0002015	Dysphagia	6622	SNCA	OMIM:168601
HP:0002015	Dysphagia	6622	SNCA	ORPHA:171695
HP:0002015	Dysphagia	6622	SNCA	ORPHA:411602
HP:0002015	Dysphagia	3156	HMGCR	OMIM:620375
HP:0002015	Dysphagia	5605	MAP2K2	ORPHA:638
HP:0002015	Dysphagia	4763	NF1	ORPHA:638
HP:0002015	Dysphagia	10128	LRPPRC	OMIM:220111
HP:0002015	Dysphagia	10128	LRPPRC	ORPHA:70472
HP:0002015	Dysphagia	773	CACNA1A	OMIM:183086
HP:0002015	Dysphagia	773	CACNA1A	ORPHA:2131
HP:0002015	Dysphagia	773	CACNA1A	ORPHA:98758
HP:0002015	Dysphagia	80308	FLAD1	OMIM:255100
HP:0002015	Dysphagia	9782	MATR3	OMIM:606070
HP:0002015	Dysphagia	9782	MATR3	ORPHA:600
HP:0002015	Dysphagia	9782	MATR3	ORPHA:803
HP:0002015	Dysphagia	400916	CHCHD10	OMIM:615911
HP:0002015	Dysphagia	400916	CHCHD10	ORPHA:275872
HP:0002015	Dysphagia	400916	CHCHD10	ORPHA:803
HP:0002015	Dysphagia	400916	CHCHD10	ORPHA:276435
HP:0002015	Dysphagia	775	CACNA1C	OMIM:620029
HP:0002015	Dysphagia	7138	TNNT1	OMIM:620389
HP:0002015	Dysphagia	2521	FUS	ORPHA:275872
HP:0002015	Dysphagia	2521	FUS	ORPHA:300605
HP:0002015	Dysphagia	2521	FUS	ORPHA:803
HP:0002015	Dysphagia	8878	SQSTM1	ORPHA:275872
HP:0002015	Dysphagia	8878	SQSTM1	ORPHA:803
HP:0002015	Dysphagia	8878	SQSTM1	OMIM:616437
HP:0002015	Dysphagia	23435	TARDBP	ORPHA:275872
HP:0002015	Dysphagia	23435	TARDBP	ORPHA:803
HP:0002015	Dysphagia	23435	TARDBP	OMIM:612069
HP:0002015	Dysphagia	29110	TBK1	ORPHA:275872
HP:0002015	Dysphagia	29110	TBK1	ORPHA:803
HP:0002015	Dysphagia	29110	TBK1	OMIM:616439
HP:0002015	Dysphagia	5111	PCNA	OMIM:615919
HP:0002015	Dysphagia	4758	NEU1	ORPHA:93399
HP:0002015	Dysphagia	79581	SLC52A2	OMIM:614707
HP:0002015	Dysphagia	5660	PSAP	OMIM:249900
HP:0002015	Dysphagia	4281	MID1	OMIM:300000
HP:0002015	Dysphagia	4281	MID1	ORPHA:2745
HP:0002015	Dysphagia	10324	KLHL41	ORPHA:171433
HP:0002015	Dysphagia	10324	KLHL41	ORPHA:171430
HP:0002015	Dysphagia	131377	KLHL40	ORPHA:171430
HP:0002015	Dysphagia	131377	KLHL40	OMIM:615348
HP:0002015	Dysphagia	56203	LMOD3	ORPHA:171430
HP:0002015	Dysphagia	4649	MYO9A	OMIM:618198
HP:0002015	Dysphagia	4649	MYO9A	ORPHA:98914
HP:0002015	Dysphagia	4010	LMX1B	ORPHA:495818
HP:0002015	Dysphagia	6812	STXBP1	ORPHA:495818
HP:0002015	Dysphagia	271	AMPD2	OMIM:615809
HP:0002015	Dysphagia	3119	HLA-DQB1	ORPHA:930
HP:0002015	Dysphagia	9244	CRLF1	ORPHA:930
HP:0002015	Dysphagia	3117	HLA-DQA1	ORPHA:930
HP:0002015	Dysphagia	4842	NOS1	ORPHA:930
HP:0002015	Dysphagia	7298	TYMS	OMIM:620040
HP:0002015	Dysphagia	2483	FRG1	OMIM:158900
HP:0002015	Dysphagia	729359	PLIN4	OMIM:601846
HP:0002015	Dysphagia	64207	IRF2BPL	OMIM:618088
HP:0002015	Dysphagia	146862	UNC45B	OMIM:619178
HP:0002015	Dysphagia	5119	CHMP1A	OMIM:614961
HP:0002015	Dysphagia	23522	KAT6B	OMIM:606170
HP:0002015	Dysphagia	7555	CNBP	ORPHA:606
HP:0002015	Dysphagia	9570	GOSR2	OMIM:620166
HP:0002015	Dysphagia	4151	MB	OMIM:620286
HP:0002015	Dysphagia	2332	FMR1	ORPHA:93256
HP:0002015	Dysphagia	7466	WFS1	OMIM:222300
HP:0002015	Dysphagia	26278	SACS	ORPHA:98
HP:0002015	Dysphagia	9839	ZEB2	ORPHA:261552
HP:0002015	Dysphagia	9839	ZEB2	ORPHA:261537
HP:0002015	Dysphagia	57190	SELENON	ORPHA:2020
HP:0002015	Dysphagia	4633	MYL2	ORPHA:2020
HP:0002015	Dysphagia	3679	ITGA7	ORPHA:2020
HP:0002015	Dysphagia	9200	HACD1	ORPHA:2020
HP:0002015	Dysphagia	51776	MAP3K20	ORPHA:2020
HP:0002015	Dysphagia	79152	FA2H	ORPHA:329308
HP:0002015	Dysphagia	23400	ATP13A2	ORPHA:306674
HP:0002015	Dysphagia	23400	ATP13A2	OMIM:606693
HP:0002015	Dysphagia	7156	TOP3A	OMIM:618098
HP:0002015	Dysphagia	1641	DCX	ORPHA:2148
HP:0002015	Dysphagia	60	ACTB	OMIM:607371
HP:0002015	Dysphagia	60	ACTB	ORPHA:79107
HP:0002015	Dysphagia	6662	SOX9	ORPHA:718
HP:0002015	Dysphagia	1600	DAB1	OMIM:615945
HP:0002015	Dysphagia	113278	SLC52A3	OMIM:211530
HP:0002015	Dysphagia	113278	SLC52A3	OMIM:211500
HP:0002015	Dysphagia	2395	FXN	ORPHA:95
HP:0002015	Dysphagia	5251	PHEX	ORPHA:89936
HP:0002015	Dysphagia	23533	PIK3R5	ORPHA:64753
HP:0002015	Dysphagia	23064	SETX	ORPHA:64753
HP:0002015	Dysphagia	23064	SETX	OMIM:606002
HP:0002015	Dysphagia	3211	HOXB1	OMIM:614744
HP:0002015	Dysphagia	6507	SLC1A3	ORPHA:2131
HP:0002015	Dysphagia	477	ATP1A2	ORPHA:2131
HP:0002015	Dysphagia	146057	TTBK2	ORPHA:98767
HP:0002015	Dysphagia	3748	KCNC3	ORPHA:98768
HP:0002015	Dysphagia	9289	ADGRG1	ORPHA:98889
HP:0002015	Dysphagia	5297	PI4KA	ORPHA:98889
HP:0002015	Dysphagia	5297	PI4KA	OMIM:619708
HP:0002015	Dysphagia	27286	SRPX2	ORPHA:98889
HP:0002015	Dysphagia	11128	POLR3A	OMIM:264090
HP:0002015	Dysphagia	11128	POLR3A	ORPHA:447896
HP:0002015	Dysphagia	11128	POLR3A	OMIM:607694
HP:0002015	Dysphagia	80704	SLC19A3	OMIM:607483
HP:0002015	Dysphagia	80025	PANK2	OMIM:234200
HP:0002015	Dysphagia	80025	PANK2	ORPHA:216873
HP:0002015	Dysphagia	80025	PANK2	ORPHA:216866
HP:0002015	Dysphagia	92667	MGME1	ORPHA:352447
HP:0002015	Dysphagia	6558	SLC12A2	OMIM:619083
HP:0002015	Dysphagia	724066	ATXN8	ORPHA:98760
HP:0002015	Dysphagia	724066	ATXN8	OMIM:608768
HP:0002015	Dysphagia	492	ATP2B3	OMIM:302500
HP:0002015	Dysphagia	3251	HPRT1	OMIM:300322
HP:0002015	Dysphagia	3208	HPCA	OMIM:224500
HP:0002015	Dysphagia	10280	SIGMAR1	ORPHA:300605
HP:0002015	Dysphagia	10558	SPTLC1	ORPHA:300605
HP:0002015	Dysphagia	6774	STAT3	OMIM:147060
HP:0002015	Dysphagia	2934	GSN	ORPHA:85448
HP:0002015	Dysphagia	255928	SYT14	ORPHA:284271
HP:0002015	Dysphagia	255928	SYT14	OMIM:614229
HP:0002015	Dysphagia	9409	PEX16	OMIM:614877
HP:0002015	Dysphagia	9440	MED17	OMIM:613668
HP:0002015	Dysphagia	2263	FGFR2	ORPHA:2363
HP:0002015	Dysphagia	2261	FGFR3	ORPHA:2363
HP:0002015	Dysphagia	2255	FGF10	ORPHA:2363
HP:0002015	Dysphagia	7443	VRK1	OMIM:607596
HP:0002015	Dysphagia	8314	BAP1	ORPHA:50251
HP:0002015	Dysphagia	6310	ATXN1	ORPHA:98755
HP:0002015	Dysphagia	6310	ATXN1	OMIM:164400
HP:0002015	Dysphagia	10133	OPTN	OMIM:613435
HP:0002015	Dysphagia	10133	OPTN	ORPHA:803
HP:0002015	Dysphagia	50628	GEMIN4	OMIM:617913
HP:0002015	Dysphagia	91574	MTRFR	OMIM:613559
HP:0002015	Dysphagia	85021	REPS1	OMIM:617916
HP:0002015	Dysphagia	3752	KCND3	OMIM:607346
HP:0002015	Dysphagia	25978	CHMP2B	ORPHA:803
HP:0002015	Dysphagia	3178	HNRNPA1	ORPHA:803
HP:0002015	Dysphagia	8148	TAF15	ORPHA:803
HP:0002015	Dysphagia	5445	PON2	ORPHA:803
HP:0002015	Dysphagia	9217	VAPB	ORPHA:803
HP:0002015	Dysphagia	9217	VAPB	OMIM:608627
HP:0002015	Dysphagia	5630	PRPH	ORPHA:803
HP:0002015	Dysphagia	5630	PRPH	OMIM:105400
HP:0002015	Dysphagia	55830	GLT8D1	ORPHA:803
HP:0002015	Dysphagia	755	CFAP410	ORPHA:803
HP:0002015	Dysphagia	10891	PPARGC1A	ORPHA:803
HP:0002015	Dysphagia	6647	SOD1	ORPHA:803
HP:0002015	Dysphagia	6647	SOD1	OMIM:105400
HP:0002015	Dysphagia	1639	DCTN1	ORPHA:803
HP:0002015	Dysphagia	1639	DCTN1	OMIM:105400
HP:0002015	Dysphagia	9896	FIG4	ORPHA:803
HP:0002015	Dysphagia	5444	PON1	ORPHA:803
HP:0002015	Dysphagia	5446	PON3	ORPHA:803
HP:0002015	Dysphagia	4744	NEFH	ORPHA:803
HP:0002015	Dysphagia	4744	NEFH	OMIM:105400
HP:0002015	Dysphagia	54209	TREM2	ORPHA:803
HP:0002015	Dysphagia	283	ANG	ORPHA:803
HP:0002015	Dysphagia	2733	GLE1	ORPHA:803
HP:0002015	Dysphagia	1610	DAO	ORPHA:803
HP:0002015	Dysphagia	2066	ERBB4	ORPHA:803
HP:0002015	Dysphagia	311	ANXA11	ORPHA:803
HP:0002015	Dysphagia	311	ANXA11	OMIM:617839
HP:0002015	Dysphagia	23025	UNC13A	ORPHA:803
HP:0002015	Dysphagia	899	CCNF	ORPHA:803
HP:0002015	Dysphagia	6509	SLC1A4	ORPHA:447997
HP:0002015	Dysphagia	6314	ATXN7	ORPHA:94147
HP:0002015	Dysphagia	6314	ATXN7	OMIM:164500
HP:0002015	Dysphagia	2776	GNAQ	ORPHA:3205
HP:0002015	Dysphagia	25793	FBXO7	ORPHA:171695
HP:0002015	Dysphagia	51067	YARS2	OMIM:613561
HP:0002015	Dysphagia	7407	VARS1	OMIM:617802
HP:0002015	Dysphagia	284119	CAVIN1	OMIM:613327
HP:0002015	Dysphagia	10382	TUBB4A	OMIM:128101
HP:0002015	Dysphagia	10382	TUBB4A	ORPHA:98805
HP:0002015	Dysphagia	23534	TNPO3	OMIM:608423
HP:0002015	Dysphagia	1861	TOR1A	OMIM:128100
HP:0002015	Dysphagia	54704	PDP1	OMIM:608782
HP:0002015	Dysphagia	1288	COL4A6	ORPHA:1018
HP:0002015	Dysphagia	1287	COL4A5	ORPHA:1018
HP:0002015	Dysphagia	55906	ZC4H2	OMIM:301041
HP:0002015	Dysphagia	2982	GUCY1A1	OMIM:615750
HP:0002015	Dysphagia	9420	CYP7B1	ORPHA:100986
HP:0002015	Dysphagia	29926	GMPPA	OMIM:615510
HP:0002015	Dysphagia	54832	VPS13C	OMIM:616840
HP:0002015	Dysphagia	23394	ADNP	OMIM:615873
HP:0002015	Dysphagia	57704	GBA2	ORPHA:352641
HP:0002015	Dysphagia	79848	CSPP1	OMIM:615636
HP:0002015	Dysphagia	6328	SCN3A	OMIM:617938
HP:0002015	Dysphagia	79587	CARS2	ORPHA:477774
HP:0002015	Dysphagia	10157	AASS	ORPHA:2203
HP:0002015	Dysphagia	2782	GNB1	OMIM:616973
HP:0002015	Dysphagia	79644	SRD5A3	OMIM:612379
HP:0002015	Dysphagia	3106	HLA-B	ORPHA:36426
HP:0002015	Dysphagia	10320	IKZF1	ORPHA:36426
HP:0002015	Dysphagia	27235	COQ2	OMIM:607426
HP:0002015	Dysphagia	25953	PNKD	OMIM:118800
HP:0002015	Dysphagia	8867	SYNJ1	OMIM:615530
HP:0002015	Dysphagia	4358	MPV17	OMIM:256810
HP:0002015	Dysphagia	2058	EPRS1	OMIM:617951
HP:0002015	Dysphagia	80746	TSEN2	OMIM:612389
HP:0002015	Dysphagia	23317	DNAJC13	ORPHA:411602
HP:0002015	Dysphagia	1981	EIF4G1	ORPHA:411602
HP:0002015	Dysphagia	55737	VPS35	ORPHA:411602
HP:0002015	Dysphagia	120892	LRRK2	ORPHA:411602
HP:0002015	Dysphagia	26058	GIGYF2	ORPHA:411602
HP:0002015	Dysphagia	51008	ASCC1	OMIM:616867
HP:0002015	Dysphagia	9325	TRIP4	OMIM:616866
HP:0002015	Dysphagia	7849	PAX8	ORPHA:95712
HP:0002015	Dysphagia	1482	NKX2-5	ORPHA:95712
HP:0002015	Dysphagia	128989	TANGO2	ORPHA:480864
HP:0002015	Dysphagia	5582	PRKCG	OMIM:605361
HP:0002015	Dysphagia	3418	IDH2	ORPHA:163634
HP:0002015	Dysphagia	3417	IDH1	ORPHA:163634
HP:0002015	Dysphagia	59336	PRDM13	OMIM:619909
HP:0002015	Dysphagia	538	ATP7A	ORPHA:198
HP:0002015	Dysphagia	79784	MYH14	ORPHA:397744
HP:0002015	Dysphagia	1103	CHAT	OMIM:254210
HP:0002015	Dysphagia	1103	CHAT	ORPHA:98914
HP:0002015	Dysphagia	84617	TUBB6	OMIM:617732
HP:0002015	Dysphagia	23556	PIGN	ORPHA:280633
HP:0002015	Dysphagia	2670	GFAP	ORPHA:363722
HP:0002015	Dysphagia	2670	GFAP	ORPHA:363717
HP:0002015	Dysphagia	122553	TRAPPC6B	OMIM:617862
HP:0002015	Dysphagia	28957	MRPS28	OMIM:618958
HP:0002015	Dysphagia	1305	COL13A1	ORPHA:98914
HP:0002015	Dysphagia	6576	SLC25A1	ORPHA:98914
HP:0002015	Dysphagia	375790	AGRN	ORPHA:98914
HP:0002015	Dysphagia	6572	SLC18A3	ORPHA:98914
HP:0002015	Dysphagia	6616	SNAP25	ORPHA:98914
HP:0002015	Dysphagia	8292	COLQ	ORPHA:98915
HP:0002015	Dysphagia	8292	COLQ	OMIM:603034
HP:0002015	Dysphagia	3913	LAMB2	ORPHA:98915
HP:0002015	Dysphagia	51	ACOX1	OMIM:264470
HP:0002015	Dysphagia	51	ACOX1	OMIM:618960
HP:0002015	Dysphagia	10577	NPC2	OMIM:607625
HP:0002015	Dysphagia	8913	CACNA1G	ORPHA:458803
HP:0002015	Dysphagia	8913	CACNA1G	OMIM:616795
HP:0002015	Dysphagia	6651	SON	ORPHA:500150
HP:0002015	Dysphagia	22943	DKK1	ORPHA:268882
HP:0002015	Dysphagia	8243	SMC1A	ORPHA:220386
HP:0002015	Dysphagia	7515	XRCC1	OMIM:617633
HP:0002015	Dysphagia	57731	SPTBN4	OMIM:617519
HP:0002015	Dysphagia	4359	MPZ	OMIM:607736
HP:0002015	Dysphagia	4204	MECP2	OMIM:300260
HP:0002015	Dysphagia	4747	NEFL	OMIM:607734
HP:0002015	Dysphagia	7543	ZFX	OMIM:301118
HP:0002015	Dysphagia	9373	PLAA	OMIM:617527
HP:0002015	Dysphagia	367	AR	OMIM:313200
HP:0002015	Dysphagia	84665	MYPN	ORPHA:171439
HP:0002015	Dysphagia	390594	KBTBD13	ORPHA:171439
HP:0002015	Dysphagia	2581	GALC	ORPHA:206443
HP:0002015	Dysphagia	10667	FARS2	ORPHA:466722
HP:0002015	Dysphagia	343641	TGM6	OMIM:613908
HP:0002015	Dysphagia	343641	TGM6	ORPHA:276193
HP:0002015	Dysphagia	5654	HTRA1	ORPHA:199354
HP:0002015	Dysphagia	4841	NONO	ORPHA:466791
HP:0002015	Dysphagia	5917	RARS1	OMIM:616140
HP:0002015	Dysphagia	5917	RARS1	ORPHA:438114
HP:0002015	Dysphagia	5832	ALDH18A1	OMIM:616586
HP:0002015	Dysphagia	1593	CYP27A1	OMIM:213700
HP:0002015	Dysphagia	2583	B4GALNT1	ORPHA:101006
HP:0002015	Dysphagia	116150	NUS1	OMIM:617082
HP:0002015	Dysphagia	22872	SEC31A	OMIM:618651
HP:0002015	Dysphagia	23503	ZFYVE26	ORPHA:100996
HP:0002015	Dysphagia	3145	HMBS	ORPHA:79276
HP:0002015	Dysphagia	55768	NGLY1	OMIM:615273
HP:0002015	Dysphagia	55768	NGLY1	ORPHA:404454
HP:0002015	Dysphagia	116461	TSEN15	ORPHA:2524
HP:0002015	Dysphagia	79042	TSEN34	ORPHA:2524
HP:0002015	Dysphagia	51091	SEPSECS	ORPHA:2524
HP:0002015	Dysphagia	5376	PMP22	ORPHA:98916
HP:0002015	Dysphagia	6872	TAF1	ORPHA:53351
HP:0002015	Dysphagia	10755	GIPC1	ORPHA:98897
HP:0002015	Dysphagia	6515	SLC2A3	ORPHA:399
HP:0002015	Dysphagia	7528	YY1	ORPHA:506358
HP:0002015	Dysphagia	5393	EXOSC9	OMIM:618065
HP:0002015	Dysphagia	112	ADCY6	OMIM:616287
HP:0002015	Dysphagia	8506	CNTNAP1	OMIM:616286
HP:0002015	Dysphagia	201163	FLCN	OMIM:610883
HP:0002015	Dysphagia	7314	UBB	ORPHA:99772
HP:0002015	Dysphagia	57822	GRHL3	ORPHA:99772
HP:0002015	Dysphagia	222663	SCUBE3	OMIM:619184
HP:0002015	Dysphagia	374879	ZNF699	OMIM:619488
HP:0002015	Dysphagia	57589	RIC1	ORPHA:199306
HP:0002015	Dysphagia	1739	DLG1	ORPHA:199306
HP:0002015	Dysphagia	999	CDH1	ORPHA:199306
HP:0002015	Dysphagia	1748	DLX4	ORPHA:199306
HP:0002015	Dysphagia	652	BMP4	ORPHA:199306
HP:0002015	Dysphagia	22837	COBLL1	ORPHA:199306
HP:0002015	Dysphagia	54848	ARHGEF38	ORPHA:199306
HP:0002015	Dysphagia	9411	ARHGAP29	ORPHA:199306
HP:0002015	Dysphagia	443	ASPA	ORPHA:314911
HP:0002015	Dysphagia	10743	RAI1	ORPHA:1713
HP:0020141	Blood pressure substantially higher in legs than arms	3593	IL12B	ORPHA:3287
HP:0020141	Blood pressure substantially higher in legs than arms	3106	HLA-B	ORPHA:3287
HP:0020141	Blood pressure substantially higher in legs than arms	6945	MLX	ORPHA:3287
HP:0002570	Steatorrhea	51128	SAR1B	OMIM:246700
HP:0002570	Steatorrhea	51128	SAR1B	ORPHA:71
HP:0002570	Steatorrhea	9056	SLC7A7	ORPHA:470
HP:0002570	Steatorrhea	80270	HSD3B7	OMIM:607765
HP:0002570	Steatorrhea	6555	SLC10A2	OMIM:613291
HP:0002570	Steatorrhea	57003	CCDC47	OMIM:618268
HP:0002570	Steatorrhea	5193	PEX12	OMIM:266510
HP:0002570	Steatorrhea	79827	CLMP	OMIM:615237
HP:0002570	Steatorrhea	118429	ANTXR2	ORPHA:2176
HP:0002570	Steatorrhea	338	APOB	OMIM:615558
HP:0002570	Steatorrhea	9420	CYP7B1	OMIM:613812
HP:0002570	Steatorrhea	6718	AKR1D1	ORPHA:79303
HP:0002570	Steatorrhea	6718	AKR1D1	OMIM:235555
HP:0002570	Steatorrhea	1080	CFTR	OMIM:167800
HP:0002570	Steatorrhea	1080	CFTR	ORPHA:586
HP:0002570	Steatorrhea	1080	CFTR	OMIM:219700
HP:0002570	Steatorrhea	11330	CTRC	OMIM:167800
HP:0002570	Steatorrhea	5645	PRSS2	OMIM:167800
HP:0002570	Steatorrhea	5644	PRSS1	OMIM:167800
HP:0002570	Steatorrhea	6690	SPINK1	OMIM:167800
HP:0002570	Steatorrhea	123264	SLC51B	OMIM:619481
HP:0002570	Steatorrhea	6804	STX1A	ORPHA:586
HP:0002570	Steatorrhea	2947	GSTM3	ORPHA:586
HP:0002570	Steatorrhea	7040	TGFB1	ORPHA:586
HP:0002570	Steatorrhea	7040	TGFB1	OMIM:219700
HP:0002570	Steatorrhea	2729	GCLC	ORPHA:586
HP:0002570	Steatorrhea	1084	CEACAM3	ORPHA:586
HP:0002570	Steatorrhea	6556	SLC11A1	ORPHA:586
HP:0002570	Steatorrhea	51164	DCTN4	ORPHA:586
HP:0002570	Steatorrhea	3783	KCNN4	ORPHA:586
HP:0002570	Steatorrhea	4282	MIF	ORPHA:586
HP:0002570	Steatorrhea	1909	EDNRA	ORPHA:586
HP:0002570	Steatorrhea	6550	SLC9A3	ORPHA:586
HP:0002570	Steatorrhea	3162	HMOX1	ORPHA:586
HP:0002570	Steatorrhea	115019	SLC26A9	ORPHA:586
HP:0002570	Steatorrhea	3077	HFE	ORPHA:586
HP:0002570	Steatorrhea	11254	SLC6A14	ORPHA:586
HP:0002570	Steatorrhea	5265	SERPINA1	ORPHA:586
HP:0002570	Steatorrhea	22802	CLCA4	ORPHA:586
HP:0002570	Steatorrhea	4680	CEACAM6	ORPHA:586
HP:0002570	Steatorrhea	3594	IL12RB1	ORPHA:186
HP:0002570	Steatorrhea	23534	TNPO3	ORPHA:186
HP:0002570	Steatorrhea	3592	IL12A	ORPHA:186
HP:0002570	Steatorrhea	6689	SPIB	ORPHA:186
HP:0002570	Steatorrhea	5450	POU2AF1	ORPHA:186
HP:0002570	Steatorrhea	9966	TNFSF15	ORPHA:186
HP:0002570	Steatorrhea	79258	MMEL1	ORPHA:186
HP:0002570	Steatorrhea	3663	IRF5	ORPHA:186
HP:0002570	Steatorrhea	6729	SRP54	OMIM:618752
HP:0002570	Steatorrhea	6729	SRP54	OMIM:260400
HP:0002570	Steatorrhea	51119	SBDS	OMIM:260400
HP:0002570	Steatorrhea	51119	SBDS	ORPHA:811
HP:0002570	Steatorrhea	134218	DNAJC21	OMIM:260400
HP:0002570	Steatorrhea	134218	DNAJC21	ORPHA:811
HP:0002570	Steatorrhea	79631	EFL1	OMIM:617941
HP:0002570	Steatorrhea	79631	EFL1	ORPHA:811
HP:0002570	Steatorrhea	8309	ACOX2	OMIM:617308
HP:0002570	Steatorrhea	23729	SHPK	ORPHA:440713
HP:0002570	Steatorrhea	9414	TJP2	OMIM:607748
HP:0002570	Steatorrhea	3988	LIPA	ORPHA:75233
HP:0002570	Steatorrhea	3988	LIPA	OMIM:278000
HP:0002570	Steatorrhea	4072	EPCAM	ORPHA:92050
HP:0002570	Steatorrhea	105371045	PERCC1	ORPHA:92050
HP:0002570	Steatorrhea	2212	FCGR2A	OMIM:219700
HP:0002570	Steatorrhea	4351	MPI	OMIM:602579
HP:0002570	Steatorrhea	51651	PTRH2	OMIM:616263
HP:0002570	Steatorrhea	3930	LBR	OMIM:613471
HP:0002570	Steatorrhea	3117	HLA-DQA1	OMIM:212750
HP:0002570	Steatorrhea	3119	HLA-DQB1	OMIM:212750
HP:0002570	Steatorrhea	256297	PTF1A	OMIM:615935
HP:0002570	Steatorrhea	3158	HMGCS2	OMIM:605911
HP:0002570	Steatorrhea	4547	MTTP	ORPHA:14
HP:0002570	Steatorrhea	5406	PNLIP	OMIM:614338
HP:0002570	Steatorrhea	84701	COX4I2	OMIM:612714
HP:0002570	Steatorrhea	5373	PMM2	OMIM:212065
HP:0002571	Achalasia	54809	SAMD9	OMIM:617053
HP:0002571	Achalasia	2982	GUCY1A1	OMIM:615750
HP:0002571	Achalasia	55699	IARS2	OMIM:616007
HP:0002571	Achalasia	55699	IARS2	ORPHA:436174
HP:0002571	Achalasia	6774	STAT3	OMIM:615952
HP:0002571	Achalasia	10625	IVNS1ABP	OMIM:618969
HP:0002571	Achalasia	29926	GMPPA	OMIM:615510
HP:0002571	Achalasia	29926	GMPPA	ORPHA:869
HP:0002571	Achalasia	60684	TRAPPC11	OMIM:615356
HP:0002571	Achalasia	60684	TRAPPC11	ORPHA:869
HP:0002571	Achalasia	8086	AAAS	ORPHA:869
HP:0002571	Achalasia	8086	AAAS	OMIM:231550
HP:0002571	Achalasia	2717	GLA	ORPHA:324
HP:0002571	Achalasia	60	ACTB	ORPHA:79107
HP:0002571	Achalasia	60	ACTB	OMIM:607371
HP:0002571	Achalasia	283446	MYO1H	OMIM:619482
HP:0002571	Achalasia	4212	MEIS2	OMIM:600987
HP:0002571	Achalasia	56246	MRAP	OMIM:607398
HP:0002571	Achalasia	28982	FLVCR1	OMIM:609033
HP:0002571	Achalasia	1288	COL4A6	ORPHA:1018
HP:0002571	Achalasia	1287	COL4A5	ORPHA:1018
HP:0002572	Episodic vomiting	3155	HMGCL	ORPHA:20
HP:0002572	Episodic vomiting	3155	HMGCL	OMIM:246450
HP:0002572	Episodic vomiting	37	ACADVL	OMIM:201475
HP:0002572	Episodic vomiting	340533	NEXMIF	OMIM:300912
HP:0002572	Episodic vomiting	374291	NDUFS7	OMIM:618224
HP:0002572	Episodic vomiting	23126	POGZ	OMIM:616364
HP:0002572	Episodic vomiting	29927	SEC61A1	OMIM:617056
HP:0002572	Episodic vomiting	1024	CDK8	OMIM:618748
HP:0002572	Episodic vomiting	763	CA5A	OMIM:615751
HP:0002572	Episodic vomiting	23394	ADNP	OMIM:615873
HP:0002572	Episodic vomiting	4719	NDUFS1	OMIM:618226
HP:0002572	Episodic vomiting	85358	SHANK3	OMIM:606232
HP:0002572	Episodic vomiting	6050	RNH1	OMIM:620461
HP:0002572	Episodic vomiting	3190	HNRNPK	ORPHA:453504
HP:0002572	Episodic vomiting	3190	HNRNPK	ORPHA:352665
HP:0002572	Episodic vomiting	9839	ZEB2	ORPHA:261537
HP:0002572	Episodic vomiting	9839	ZEB2	ORPHA:261552
HP:0002572	Episodic vomiting	5009	OTC	ORPHA:664
HP:0002572	Episodic vomiting	4784	NFIX	ORPHA:447980
HP:0002572	Episodic vomiting	4535	MT-ND1	ORPHA:255210
HP:0002572	Episodic vomiting	4535	MT-ND1	OMIM:540000
HP:0002572	Episodic vomiting	4536	MT-ND2	ORPHA:255210
HP:0002572	Episodic vomiting	4537	MT-ND3	ORPHA:255210
HP:0002572	Episodic vomiting	4538	MT-ND4	ORPHA:255210
HP:0002572	Episodic vomiting	4567	MT-TL1	ORPHA:255210
HP:0002572	Episodic vomiting	4567	MT-TL1	OMIM:540000
HP:0002572	Episodic vomiting	4578	MT-TW	ORPHA:255210
HP:0002572	Episodic vomiting	4578	MT-TW	OMIM:540000
HP:0002572	Episodic vomiting	4577	MT-TV	ORPHA:255210
HP:0002572	Episodic vomiting	4577	MT-TV	OMIM:540000
HP:0002572	Episodic vomiting	4508	MT-ATP6	ORPHA:255210
HP:0002572	Episodic vomiting	4540	MT-ND5	ORPHA:255210
HP:0002572	Episodic vomiting	4540	MT-ND5	OMIM:540000
HP:0002572	Episodic vomiting	4541	MT-ND6	ORPHA:255210
HP:0002572	Episodic vomiting	4541	MT-ND6	OMIM:540000
HP:0002572	Episodic vomiting	4566	MT-TK	ORPHA:255210
HP:0002572	Episodic vomiting	4566	MT-TK	OMIM:540000
HP:0002572	Episodic vomiting	58484	NLRC4	OMIM:616050
HP:0002572	Episodic vomiting	728294	D2HGDH	OMIM:600721
HP:0002572	Episodic vomiting	11235	PDCD10	ORPHA:221061
HP:0002572	Episodic vomiting	5290	PIK3CA	ORPHA:221061
HP:0002572	Episodic vomiting	83605	CCM2	ORPHA:221061
HP:0002572	Episodic vomiting	889	KRIT1	ORPHA:221061
HP:0002572	Episodic vomiting	64711	HS3ST6	OMIM:619367
HP:0002572	Episodic vomiting	7385	UQCRC2	OMIM:615160
HP:0002572	Episodic vomiting	9578	CDC42BPB	OMIM:619841
HP:0002572	Episodic vomiting	440138	ALG11	ORPHA:280071
HP:0002572	Episodic vomiting	10660	LBX1	OMIM:619483
HP:0002572	Episodic vomiting	5832	ALDH18A1	OMIM:219150
HP:0002572	Episodic vomiting	2258	FGF13	OMIM:301095
HP:0002572	Episodic vomiting	2593	GAMT	OMIM:612736
HP:0002572	Episodic vomiting	2710	GK	OMIM:307030
HP:0002572	Episodic vomiting	100996717	NOTCH2NLC	OMIM:603472
HP:0002572	Episodic vomiting	10166	SLC25A15	ORPHA:415
HP:0002572	Episodic vomiting	10166	SLC25A15	OMIM:238970
HP:0002572	Episodic vomiting	4574	MT-TS1	OMIM:540000
HP:0002572	Episodic vomiting	4575	MT-TS2	OMIM:540000
HP:0002572	Episodic vomiting	4512	MT-CO1	OMIM:540000
HP:0002572	Episodic vomiting	4513	MT-CO2	OMIM:540000
HP:0002572	Episodic vomiting	4514	MT-CO3	OMIM:540000
HP:0002572	Episodic vomiting	4519	MT-CYB	OMIM:540000
HP:0002572	Episodic vomiting	4511	MT-TC	OMIM:540000
HP:0002572	Episodic vomiting	4572	MT-TQ	OMIM:540000
HP:0002572	Episodic vomiting	4558	MT-TF	OMIM:540000
HP:0002572	Episodic vomiting	27235	COQ2	OMIM:607426
HP:0002572	Episodic vomiting	55739	NAXD	OMIM:618321
HP:0002572	Episodic vomiting	55898	UNC45A	OMIM:619377
HP:0002572	Episodic vomiting	210	ALAD	ORPHA:100924
HP:0002572	Episodic vomiting	64324	NSD1	OMIM:117550
HP:0002572	Episodic vomiting	4358	MPV17	OMIM:256810
HP:0002572	Episodic vomiting	383	ARG1	OMIM:207800
HP:0002572	Episodic vomiting	2184	FAH	OMIM:276700
HP:0002572	Episodic vomiting	7276	TTR	OMIM:105210
HP:0002572	Episodic vomiting	6821	SUOX	OMIM:272300
HP:0002572	Episodic vomiting	8884	SLC5A6	OMIM:618973
HP:0002572	Episodic vomiting	8621	CDK13	OMIM:617360
HP:0002572	Episodic vomiting	1371	CPOX	ORPHA:79273
HP:0002573	Hematochezia	94	ACVRL1	OMIM:600376
HP:0002573	Hematochezia	83483	PLVAP	OMIM:618183
HP:0002573	Hematochezia	2022	ENG	OMIM:187300
HP:0002573	Hematochezia	2022	ENG	ORPHA:329971
HP:0002573	Hematochezia	57551	TAOK1	OMIM:619575
HP:0002573	Hematochezia	57217	TTC7A	OMIM:243150
HP:0002573	Hematochezia	657	BMPR1A	OMIM:174900
HP:0002573	Hematochezia	657	BMPR1A	ORPHA:157794
HP:0002573	Hematochezia	657	BMPR1A	ORPHA:329971
HP:0002573	Hematochezia	657	BMPR1A	ORPHA:79076
HP:0002573	Hematochezia	4089	SMAD4	OMIM:174900
HP:0002573	Hematochezia	4089	SMAD4	ORPHA:329971
HP:0002573	Hematochezia	4089	SMAD4	OMIM:175050
HP:0002573	Hematochezia	26585	GREM1	ORPHA:157794
HP:0002573	Hematochezia	10616	RBCK1	OMIM:615895
HP:0002573	Hematochezia	3257	HPS1	OMIM:203300
HP:0002573	Hematochezia	324	APC	ORPHA:99818
HP:0002573	Hematochezia	7454	WAS	ORPHA:906
HP:0002573	Hematochezia	7456	WIPF1	ORPHA:906
HP:0002573	Hematochezia	9420	CYP7B1	OMIM:613812
HP:0002573	Hematochezia	23600	AMACR	OMIM:214950
HP:0002573	Hematochezia	23600	AMACR	ORPHA:79095
HP:0002573	Hematochezia	10092	ARPC5	OMIM:620565
HP:0002573	Hematochezia	10095	ARPC1B	OMIM:617718
HP:0002573	Hematochezia	2153	F5	ORPHA:326
HP:0002573	Hematochezia	64135	IFIH1	OMIM:615846
HP:0002573	Hematochezia	3587	IL10RA	OMIM:613148
HP:0002573	Hematochezia	5728	PTEN	ORPHA:79076
HP:0002573	Hematochezia	81858	SHARPIN	OMIM:620795
HP:0002574	Episodic abdominal pain	87178	PNPT1	ORPHA:101111
HP:0002574	Episodic abdominal pain	79577	CDC73	ORPHA:99880
HP:0002574	Episodic abdominal pain	79577	CDC73	ORPHA:143
HP:0002574	Episodic abdominal pain	7428	VHL	ORPHA:29072
HP:0002574	Episodic abdominal pain	7428	VHL	ORPHA:276621
HP:0002574	Episodic abdominal pain	1743	DLST	ORPHA:29072
HP:0002574	Episodic abdominal pain	4191	MDH2	ORPHA:29072
HP:0002574	Episodic abdominal pain	5979	RET	ORPHA:29072
HP:0002574	Episodic abdominal pain	5979	RET	ORPHA:276621
HP:0002574	Episodic abdominal pain	6389	SDHA	ORPHA:29072
HP:0002574	Episodic abdominal pain	23095	KIF1B	ORPHA:29072
HP:0002574	Episodic abdominal pain	2271	FH	ORPHA:29072
HP:0002574	Episodic abdominal pain	8402	SLC25A11	ORPHA:29072
HP:0002574	Episodic abdominal pain	54949	SDHAF2	ORPHA:29072
HP:0002574	Episodic abdominal pain	55654	TMEM127	ORPHA:29072
HP:0002574	Episodic abdominal pain	4763	NF1	ORPHA:29072
HP:0002574	Episodic abdominal pain	6391	SDHC	ORPHA:29072
HP:0002574	Episodic abdominal pain	6392	SDHD	ORPHA:29072
HP:0002574	Episodic abdominal pain	6392	SDHD	ORPHA:276621
HP:0002574	Episodic abdominal pain	6392	SDHD	ORPHA:100093
HP:0002574	Episodic abdominal pain	6390	SDHB	ORPHA:29072
HP:0002574	Episodic abdominal pain	6390	SDHB	ORPHA:276621
HP:0002574	Episodic abdominal pain	4149	MAX	ORPHA:29072
HP:0002574	Episodic abdominal pain	1788	DNMT3A	ORPHA:276621
HP:0002574	Episodic abdominal pain	2034	EPAS1	ORPHA:276621
HP:0002574	Episodic abdominal pain	10020	GNE	ORPHA:3166
HP:0002574	Episodic abdominal pain	1376	CPT2	ORPHA:228305
HP:0002574	Episodic abdominal pain	4023	LPL	OMIM:238600
HP:0002574	Episodic abdominal pain	5277	PIGA	ORPHA:447
HP:0002574	Episodic abdominal pain	2099	ESR1	ORPHA:785
HP:0002574	Episodic abdominal pain	56246	MRAP	ORPHA:361
HP:0002574	Episodic abdominal pain	6770	STAR	ORPHA:361
HP:0002574	Episodic abdominal pain	4158	MC2R	ORPHA:361
HP:0002574	Episodic abdominal pain	23530	NNT	ORPHA:361
HP:0002574	Episodic abdominal pain	10587	TXNRD2	ORPHA:361
HP:0002574	Episodic abdominal pain	546	ATRX	ORPHA:100075
HP:0002574	Episodic abdominal pain	4210	MEFV	OMIM:249100
HP:0002574	Episodic abdominal pain	3074	HEXB	OMIM:268800
HP:0002574	Episodic abdominal pain	2065	ERBB3	OMIM:243180
HP:0002574	Episodic abdominal pain	1027	CDKN1B	ORPHA:276152
HP:0002574	Episodic abdominal pain	2313	FLI1	ORPHA:370348
HP:0002574	Episodic abdominal pain	2161	F12	OMIM:610618
HP:0002575	Tracheoesophageal fistula	2294	FOXF1	OMIM:265380
HP:0002575	Tracheoesophageal fistula	2294	FOXF1	ORPHA:210122
HP:0002575	Tracheoesophageal fistula	2187	FANCB	OMIM:300514
HP:0002575	Tracheoesophageal fistula	2187	FANCB	OMIM:314390
HP:0002575	Tracheoesophageal fistula	2187	FANCB	ORPHA:3412
HP:0002575	Tracheoesophageal fistula	2187	FANCB	ORPHA:84
HP:0002575	Tracheoesophageal fistula	10054	UBA2	OMIM:619959
HP:0002575	Tracheoesophageal fistula	6804	STX1A	ORPHA:904
HP:0002575	Tracheoesophageal fistula	7461	CLIP2	ORPHA:904
HP:0002575	Tracheoesophageal fistula	84277	DNAJC30	ORPHA:904
HP:0002575	Tracheoesophageal fistula	8468	FKBP6	ORPHA:904
HP:0002575	Tracheoesophageal fistula	5982	RFC2	ORPHA:904
HP:0002575	Tracheoesophageal fistula	2969	GTF2I	ORPHA:904
HP:0002575	Tracheoesophageal fistula	3984	LIMK1	ORPHA:904
HP:0002575	Tracheoesophageal fistula	9569	GTF2IRD1	ORPHA:904
HP:0002575	Tracheoesophageal fistula	155382	VPS37D	ORPHA:904
HP:0002575	Tracheoesophageal fistula	155368	METTL27	ORPHA:904
HP:0002575	Tracheoesophageal fistula	114049	BUD23	ORPHA:904
HP:0002575	Tracheoesophageal fistula	7458	EIF4H	ORPHA:904
HP:0002575	Tracheoesophageal fistula	84163	GTF2IRD2	ORPHA:904
HP:0002575	Tracheoesophageal fistula	26608	TBL2	ORPHA:904
HP:0002575	Tracheoesophageal fistula	653361	NCF1	ORPHA:904
HP:0002575	Tracheoesophageal fistula	653361	NCF1	ORPHA:379
HP:0002575	Tracheoesophageal fistula	135886	TMEM270	ORPHA:904
HP:0002575	Tracheoesophageal fistula	9031	BAZ1B	ORPHA:904
HP:0002575	Tracheoesophageal fistula	2006	ELN	ORPHA:904
HP:0002575	Tracheoesophageal fistula	5979	RET	ORPHA:1848
HP:0002575	Tracheoesophageal fistula	8516	ITGA8	ORPHA:1848
HP:0002575	Tracheoesophageal fistula	26281	FGF20	ORPHA:1848
HP:0002575	Tracheoesophageal fistula	2674	GFRA1	ORPHA:1848
HP:0002575	Tracheoesophageal fistula	7484	WNT9B	ORPHA:1848
HP:0002575	Tracheoesophageal fistula	80000	GREB1L	ORPHA:1848
HP:0002575	Tracheoesophageal fistula	6558	SLC12A2	OMIM:619083
HP:0002575	Tracheoesophageal fistula	84172	POLR1B	ORPHA:861
HP:0002575	Tracheoesophageal fistula	9533	POLR1C	ORPHA:861
HP:0002575	Tracheoesophageal fistula	51082	POLR1D	ORPHA:861
HP:0002575	Tracheoesophageal fistula	6949	TCOF1	ORPHA:861
HP:0002575	Tracheoesophageal fistula	6299	SALL1	OMIM:107480
HP:0002575	Tracheoesophageal fistula	7547	ZIC3	OMIM:314390
HP:0002575	Tracheoesophageal fistula	55788	LMBRD1	OMIM:277380
HP:0002575	Tracheoesophageal fistula	57466	SCAF4	OMIM:620511
HP:0002575	Tracheoesophageal fistula	55636	CHD7	ORPHA:138
HP:0002575	Tracheoesophageal fistula	55636	CHD7	OMIM:214800
HP:0002575	Tracheoesophageal fistula	9723	SEMA3E	ORPHA:138
HP:0002575	Tracheoesophageal fistula	1536	CYBB	ORPHA:379
HP:0002575	Tracheoesophageal fistula	4688	NCF2	ORPHA:379
HP:0002575	Tracheoesophageal fistula	1535	CYBA	ORPHA:379
HP:0002575	Tracheoesophageal fistula	4689	NCF4	ORPHA:379
HP:0002575	Tracheoesophageal fistula	79415	CYBC1	ORPHA:379
HP:0002575	Tracheoesophageal fistula	6657	SOX2	ORPHA:77298
HP:0002575	Tracheoesophageal fistula	6657	SOX2	ORPHA:3157
HP:0002575	Tracheoesophageal fistula	4854	NOTCH3	ORPHA:2591
HP:0002575	Tracheoesophageal fistula	5159	PDGFRB	ORPHA:2591
HP:0002575	Tracheoesophageal fistula	2177	FANCD2	OMIM:227646
HP:0002575	Tracheoesophageal fistula	2177	FANCD2	ORPHA:84
HP:0002575	Tracheoesophageal fistula	55120	FANCL	OMIM:614083
HP:0002575	Tracheoesophageal fistula	55120	FANCL	ORPHA:84
HP:0002575	Tracheoesophageal fistula	10606	PAICS	OMIM:619859
HP:0002575	Tracheoesophageal fistula	7476	WNT7A	ORPHA:2879
HP:0002575	Tracheoesophageal fistula	85459	CEP295	OMIM:620767
HP:0002575	Tracheoesophageal fistula	672	BRCA1	ORPHA:84
HP:0002575	Tracheoesophageal fistula	10459	MAD2L2	ORPHA:84
HP:0002575	Tracheoesophageal fistula	7516	XRCC2	ORPHA:84
HP:0002575	Tracheoesophageal fistula	29089	UBE2T	ORPHA:84
HP:0002575	Tracheoesophageal fistula	675	BRCA2	ORPHA:84
HP:0002575	Tracheoesophageal fistula	2175	FANCA	ORPHA:84
HP:0002575	Tracheoesophageal fistula	2176	FANCC	ORPHA:84
HP:0002575	Tracheoesophageal fistula	2178	FANCE	ORPHA:84
HP:0002575	Tracheoesophageal fistula	2188	FANCF	ORPHA:84
HP:0002575	Tracheoesophageal fistula	2189	FANCG	ORPHA:84
HP:0002575	Tracheoesophageal fistula	5888	RAD51	ORPHA:84
HP:0002575	Tracheoesophageal fistula	5889	RAD51C	ORPHA:84
HP:0002575	Tracheoesophageal fistula	55159	RFWD3	ORPHA:84
HP:0002575	Tracheoesophageal fistula	83990	BRIP1	ORPHA:84
HP:0002575	Tracheoesophageal fistula	57697	FANCM	ORPHA:84
HP:0002575	Tracheoesophageal fistula	79728	PALB2	ORPHA:84
HP:0002575	Tracheoesophageal fistula	84464	SLX4	ORPHA:84
HP:0002575	Tracheoesophageal fistula	2072	ERCC4	ORPHA:84
HP:0002575	Tracheoesophageal fistula	55215	FANCI	ORPHA:84
HP:0002575	Tracheoesophageal fistula	3239	HOXD13	ORPHA:887
HP:0002575	Tracheoesophageal fistula	5422	POLA1	OMIM:301030
HP:0002575	Tracheoesophageal fistula	80169	CTC1	ORPHA:1775
HP:0002575	Tracheoesophageal fistula	26277	TINF2	ORPHA:1775
HP:0002575	Tracheoesophageal fistula	55651	NHP2	ORPHA:1775
HP:0002575	Tracheoesophageal fistula	79650	USB1	ORPHA:1775
HP:0002575	Tracheoesophageal fistula	55135	WRAP53	ORPHA:1775
HP:0002575	Tracheoesophageal fistula	51750	RTEL1	ORPHA:1775
HP:0002575	Tracheoesophageal fistula	4869	NPM1	ORPHA:1775
HP:0002575	Tracheoesophageal fistula	7012	TERC	ORPHA:1775
HP:0002575	Tracheoesophageal fistula	55505	NOP10	ORPHA:1775
HP:0002575	Tracheoesophageal fistula	5073	PARN	ORPHA:1775
HP:0002575	Tracheoesophageal fistula	7015	TERT	ORPHA:1775
HP:0002575	Tracheoesophageal fistula	1736	DKC1	ORPHA:1775
HP:0002575	Tracheoesophageal fistula	7298	TYMS	ORPHA:1775
HP:0002575	Tracheoesophageal fistula	4281	MID1	ORPHA:2745
HP:0002575	Tracheoesophageal fistula	4613	MYCN	OMIM:164280
HP:0002575	Tracheoesophageal fistula	51729	WBP11	OMIM:619227
HP:0002575	Tracheoesophageal fistula	2260	FGFR1	ORPHA:3157
HP:0002575	Tracheoesophageal fistula	128674	PROKR2	ORPHA:3157
HP:0002575	Tracheoesophageal fistula	6658	SOX3	ORPHA:3157
HP:0002575	Tracheoesophageal fistula	9915	ARNT2	ORPHA:3157
HP:0002575	Tracheoesophageal fistula	8820	HESX1	ORPHA:3157
HP:0002575	Tracheoesophageal fistula	5015	OTX2	ORPHA:3157
HP:0002575	Tracheoesophageal fistula	2201	FBN2	ORPHA:115
HP:0002576	Intussusception	6772	STAT1	OMIM:614162
HP:0002576	Intussusception	57492	ARID1B	OMIM:135900
HP:0002576	Intussusception	657	BMPR1A	OMIM:174900
HP:0002576	Intussusception	657	BMPR1A	ORPHA:157794
HP:0002576	Intussusception	657	BMPR1A	ORPHA:79076
HP:0002576	Intussusception	4089	SMAD4	OMIM:174900
HP:0002576	Intussusception	26585	GREM1	ORPHA:157794
HP:0002576	Intussusception	5156	PDGFRA	OMIM:175510
HP:0002576	Intussusception	30008	EFEMP2	OMIM:614437
HP:0002576	Intussusception	6794	STK11	OMIM:175200
HP:0002576	Intussusception	5728	PTEN	ORPHA:79076
HP:0002576	Intussusception	55898	UNC45A	OMIM:619377
HP:0002577	Abnormal stomach morphology	23476	BRD4	ORPHA:199
HP:0002577	Abnormal stomach morphology	9126	SMC3	ORPHA:199
HP:0002577	Abnormal stomach morphology	8243	SMC1A	ORPHA:199
HP:0002577	Abnormal stomach morphology	6878	TAF6	ORPHA:199
HP:0002577	Abnormal stomach morphology	55869	HDAC8	ORPHA:199
HP:0002577	Abnormal stomach morphology	5885	RAD21	ORPHA:199
HP:0002577	Abnormal stomach morphology	375	ARF1	ORPHA:98892
HP:0002577	Abnormal stomach morphology	4131	MAP1B	ORPHA:98892
HP:0002577	Abnormal stomach morphology	2316	FLNA	ORPHA:98892
HP:0002577	Abnormal stomach morphology	2316	FLNA	OMIM:300048
HP:0002577	Abnormal stomach morphology	23327	NEDD4L	ORPHA:98892
HP:0002577	Abnormal stomach morphology	160418	TMTC3	ORPHA:98892
HP:0002577	Abnormal stomach morphology	10564	ARFGEF2	ORPHA:98892
HP:0002577	Abnormal stomach morphology	55780	ERMARD	ORPHA:98892
HP:0002577	Abnormal stomach morphology	54880	BCOR	OMIM:309800
HP:0002577	Abnormal stomach morphology	8260	NAA10	OMIM:309800
HP:0002577	Abnormal stomach morphology	1859	DYRK1A	ORPHA:268261
HP:0002577	Abnormal stomach morphology	57680	CHD8	OMIM:615032
HP:0002577	Abnormal stomach morphology	91754	NEK9	OMIM:614262
HP:0002577	Abnormal stomach morphology	8425	LTBP4	OMIM:613177
HP:0002577	Abnormal stomach morphology	9508	ADAMTS3	ORPHA:2136
HP:0002577	Abnormal stomach morphology	147372	CCBE1	ORPHA:2136
HP:0002577	Abnormal stomach morphology	79633	FAT4	ORPHA:2136
HP:0002577	Abnormal stomach morphology	6885	MAP3K7	OMIM:617137
HP:0002577	Abnormal stomach morphology	4744	NEFH	OMIM:616924
HP:0002577	Abnormal stomach morphology	9759	HDAC4	ORPHA:1001
HP:0002577	Abnormal stomach morphology	5590	PRKCZ	ORPHA:1606
HP:0002577	Abnormal stomach morphology	2563	GABRD	ORPHA:1606
HP:0002577	Abnormal stomach morphology	23013	SPEN	ORPHA:1606
HP:0002577	Abnormal stomach morphology	8510	MMP23B	ORPHA:1606
HP:0002577	Abnormal stomach morphology	7798	LUZP1	ORPHA:1606
HP:0002577	Abnormal stomach morphology	6497	SKI	ORPHA:1606
HP:0002577	Abnormal stomach morphology	10630	PDPN	ORPHA:1606
HP:0002577	Abnormal stomach morphology	3339	HSPG2	ORPHA:1606
HP:0002577	Abnormal stomach morphology	10277	UBE4B	ORPHA:1606
HP:0002577	Abnormal stomach morphology	8514	KCNAB2	ORPHA:1606
HP:0002577	Abnormal stomach morphology	473	RERE	ORPHA:1606
HP:0002577	Abnormal stomach morphology	63976	PRDM16	ORPHA:1606
HP:0002577	Abnormal stomach morphology	54897	CASZ1	ORPHA:1606
HP:0002577	Abnormal stomach morphology	4534	MTM1	OMIM:310400
HP:0002577	Abnormal stomach morphology	6928	HNF1B	ORPHA:93111
HP:0002577	Abnormal stomach morphology	9839	ZEB2	OMIM:235730
HP:0002577	Abnormal stomach morphology	9839	ZEB2	ORPHA:261537
HP:0002577	Abnormal stomach morphology	9839	ZEB2	ORPHA:261552
HP:0002577	Abnormal stomach morphology	274	BIN1	ORPHA:169189
HP:0002577	Abnormal stomach morphology	64419	MTMR14	ORPHA:169189
HP:0002577	Abnormal stomach morphology	4618	MYF6	ORPHA:169189
HP:0002577	Abnormal stomach morphology	1785	DNM2	ORPHA:169189
HP:0002577	Abnormal stomach morphology	6261	RYR1	ORPHA:169189
HP:0002577	Abnormal stomach morphology	80781	COL18A1	OMIM:267750
HP:0002577	Abnormal stomach morphology	80781	COL18A1	ORPHA:1571
HP:0002577	Abnormal stomach morphology	388015	RTL1	ORPHA:96184
HP:0002577	Abnormal stomach morphology	8788	DLK1	ORPHA:96184
HP:0002577	Abnormal stomach morphology	55384	MEG3	ORPHA:96184
HP:0002577	Abnormal stomach morphology	613	BCR	ORPHA:261330
HP:0002577	Abnormal stomach morphology	1399	CRKL	ORPHA:261330
HP:0002577	Abnormal stomach morphology	5594	MAPK1	ORPHA:261330
HP:0002577	Abnormal stomach morphology	1723	DHODH	OMIM:263750
HP:0002577	Abnormal stomach morphology	5831	PYCR1	OMIM:614438
HP:0002577	Abnormal stomach morphology	1717	DHCR7	ORPHA:818
HP:0002577	Abnormal stomach morphology	1717	DHCR7	OMIM:270400
HP:0002577	Abnormal stomach morphology	1536	CYBB	ORPHA:379
HP:0002577	Abnormal stomach morphology	4688	NCF2	ORPHA:379
HP:0002577	Abnormal stomach morphology	1535	CYBA	ORPHA:379
HP:0002577	Abnormal stomach morphology	4689	NCF4	ORPHA:379
HP:0002577	Abnormal stomach morphology	79415	CYBC1	ORPHA:379
HP:0002577	Abnormal stomach morphology	6926	TBX3	ORPHA:3138
HP:0002577	Abnormal stomach morphology	6926	TBX3	OMIM:181450
HP:0002577	Abnormal stomach morphology	4868	NPHS1	OMIM:256300
HP:0002577	Abnormal stomach morphology	63895	PIEZO2	OMIM:248700
HP:0002577	Abnormal stomach morphology	63895	PIEZO2	ORPHA:2461
HP:0002577	Abnormal stomach morphology	4784	NFIX	OMIM:602535
HP:0002577	Abnormal stomach morphology	5528	PPP2R5D	ORPHA:457279
HP:0002577	Abnormal stomach morphology	5528	PPP2R5D	OMIM:616355
HP:0002577	Abnormal stomach morphology	4791	NFKB2	OMIM:615577
HP:0002577	Abnormal stomach morphology	4052	LTBP1	ORPHA:90349
HP:0002577	Abnormal stomach morphology	30008	EFEMP2	ORPHA:90349
HP:0002577	Abnormal stomach morphology	10516	FBLN5	ORPHA:90349
HP:0002577	Abnormal stomach morphology	284058	KANSL1	OMIM:610443
HP:0002577	Abnormal stomach morphology	9896	FIG4	OMIM:216340
HP:0002577	Abnormal stomach morphology	9896	FIG4	ORPHA:3472
HP:0002577	Abnormal stomach morphology	7020	TFAP2A	OMIM:113620
HP:0002577	Abnormal stomach morphology	3914	LAMB3	OMIM:226700
HP:0002577	Abnormal stomach morphology	3918	LAMC2	OMIM:226700
HP:0002577	Abnormal stomach morphology	3909	LAMA3	OMIM:226700
HP:0002577	Abnormal stomach morphology	55697	VAC14	ORPHA:3472
HP:0002577	Abnormal stomach morphology	404672	GTF2H5	OMIM:616395
HP:0002577	Abnormal stomach morphology	25970	SH2B1	ORPHA:261197
HP:0002577	Abnormal stomach morphology	127833	SYT2	OMIM:619461
HP:0002577	Abnormal stomach morphology	7543	ZFX	OMIM:301118
HP:0002577	Abnormal stomach morphology	529	ATP6V1E1	OMIM:617402
HP:0002577	Abnormal stomach morphology	55012	PPP2R3C	OMIM:618419
HP:0002577	Abnormal stomach morphology	5062	PAK2	OMIM:618458
HP:0002577	Abnormal stomach morphology	5062	PAK2	ORPHA:1571
HP:0002577	Abnormal stomach morphology	284119	CAVIN1	OMIM:613327
HP:0002577	Abnormal stomach morphology	2582	GALE	OMIM:620776
HP:0002577	Abnormal stomach morphology	55670	PEX26	ORPHA:912
HP:0002577	Abnormal stomach morphology	5824	PEX19	ORPHA:912
HP:0002577	Abnormal stomach morphology	5828	PEX2	ORPHA:912
HP:0002577	Abnormal stomach morphology	8504	PEX3	ORPHA:912
HP:0002577	Abnormal stomach morphology	8799	PEX11B	ORPHA:912
HP:0002577	Abnormal stomach morphology	9409	PEX16	ORPHA:912
HP:0002577	Abnormal stomach morphology	5190	PEX6	ORPHA:912
HP:0002577	Abnormal stomach morphology	5830	PEX5	ORPHA:912
HP:0002577	Abnormal stomach morphology	5189	PEX1	ORPHA:912
HP:0002577	Abnormal stomach morphology	5193	PEX12	ORPHA:912
HP:0002577	Abnormal stomach morphology	5194	PEX13	ORPHA:912
HP:0002577	Abnormal stomach morphology	5195	PEX14	ORPHA:912
HP:0002577	Abnormal stomach morphology	5192	PEX10	ORPHA:912
HP:0002577	Abnormal stomach morphology	3265	HRAS	OMIM:218040
HP:0002577	Abnormal stomach morphology	871	SERPINH1	OMIM:613848
HP:0002577	Abnormal stomach morphology	2313	FLI1	ORPHA:2308
HP:0002577	Abnormal stomach morphology	2263	FGFR2	OMIM:101200
HP:0002577	Abnormal stomach morphology	4629	MYH11	OMIM:619350
HP:0002577	Abnormal stomach morphology	64840	PORCN	OMIM:305600
HP:0002577	Abnormal stomach morphology	538	ATP7A	ORPHA:198
HP:0002577	Abnormal stomach morphology	538	ATP7A	OMIM:304150
HP:0002577	Abnormal stomach morphology	81031	SLC2A10	OMIM:208050
HP:0002577	Abnormal stomach morphology	81031	SLC2A10	ORPHA:3342
HP:0002577	Abnormal stomach morphology	9968	MED12	OMIM:300895
HP:0002577	Abnormal stomach morphology	84231	TRAF7	OMIM:618164
HP:0002577	Abnormal stomach morphology	2132	EXT2	OMIM:616682
HP:0002577	Abnormal stomach morphology	25836	NIPBL	OMIM:122470
HP:0002577	Abnormal stomach morphology	84942	WDR73	OMIM:251300
HP:0002577	Abnormal stomach morphology	84942	WDR73	ORPHA:2065
HP:0002577	Abnormal stomach morphology	9719	ADAMTSL2	ORPHA:1901
HP:0002577	Abnormal stomach morphology	9509	ADAMTS2	ORPHA:1901
HP:0002577	Abnormal stomach morphology	6925	TCF4	ORPHA:2896
HP:0002577	Abnormal stomach morphology	5832	ALDH18A1	OMIM:601162
HP:0002577	Abnormal stomach morphology	1277	COL1A1	ORPHA:287
HP:0002577	Abnormal stomach morphology	1289	COL5A1	ORPHA:287
HP:0002577	Abnormal stomach morphology	1289	COL5A1	OMIM:619329
HP:0002577	Abnormal stomach morphology	1290	COL5A2	ORPHA:287
HP:0002577	Abnormal stomach morphology	7148	TNXB	OMIM:606408
HP:0002577	Abnormal stomach morphology	113189	CHST14	OMIM:601776
HP:0002577	Abnormal stomach morphology	715	C1R	OMIM:130080
HP:0002577	Abnormal stomach morphology	2743	GLRB	ORPHA:3197
HP:0002577	Abnormal stomach morphology	2743	GLRB	OMIM:614619
HP:0002577	Abnormal stomach morphology	2741	GLRA1	ORPHA:3197
HP:0002577	Abnormal stomach morphology	10243	GPHN	ORPHA:3197
HP:0002577	Abnormal stomach morphology	84896	ATAD1	ORPHA:3197
HP:0002577	Abnormal stomach morphology	9152	SLC6A5	ORPHA:3197
HP:0002577	Abnormal stomach morphology	9152	SLC6A5	OMIM:614618
HP:0002577	Abnormal stomach morphology	374879	ZNF699	OMIM:619488
HP:0002577	Abnormal stomach morphology	7043	TGFB3	OMIM:615582
HP:0002577	Abnormal stomach morphology	169792	GLIS3	OMIM:610199
HP:0002577	Abnormal stomach morphology	23261	CAMTA1	OMIM:614756
HP:0002577	Abnormal stomach morphology	84520	GON7	OMIM:619603
HP:0002577	Abnormal stomach morphology	84520	GON7	ORPHA:2065
HP:0002577	Abnormal stomach morphology	79693	YRDC	ORPHA:2065
HP:0002577	Abnormal stomach morphology	51002	TPRKB	ORPHA:2065
HP:0002577	Abnormal stomach morphology	55644	OSGEP	ORPHA:2065
HP:0002577	Abnormal stomach morphology	55644	OSGEP	OMIM:617729
HP:0002577	Abnormal stomach morphology	57122	NUP107	ORPHA:2065
HP:0002577	Abnormal stomach morphology	10785	WDR4	ORPHA:2065
HP:0002577	Abnormal stomach morphology	55746	NUP133	ORPHA:2065
HP:0002577	Abnormal stomach morphology	112858	TP53RK	ORPHA:2065
HP:0002577	Abnormal stomach morphology	8270	LAGE3	ORPHA:2065
HP:0002577	Abnormal stomach morphology	51341	ZBTB7A	OMIM:619769
HP:0002577	Abnormal stomach morphology	412	STS	ORPHA:281090
HP:0002577	Abnormal stomach morphology	4790	NFKB1	OMIM:616576
HP:0002577	Abnormal stomach morphology	64135	IFIH1	OMIM:615846
HP:0002577	Abnormal stomach morphology	987	LRBA	OMIM:614700
HP:0002577	Abnormal stomach morphology	326	AIRE	OMIM:240300
HP:0002577	Abnormal stomach morphology	50619	DEF6	OMIM:619573
HP:0002577	Abnormal stomach morphology	1493	CTLA4	OMIM:616100
HP:0002577	Abnormal stomach morphology	1493	CTLA4	ORPHA:436159
HP:0002577	Abnormal stomach morphology	6774	STAT3	OMIM:147060
HP:0002577	Abnormal stomach morphology	493856	CISD2	ORPHA:3463
HP:0002577	Abnormal stomach morphology	7466	WFS1	ORPHA:3463
HP:0002577	Abnormal stomach morphology	57492	ARID1B	OMIM:135900
HP:0002577	Abnormal stomach morphology	2629	GBA1	ORPHA:2072
HP:0002577	Abnormal stomach morphology	5321	PLA2G4A	OMIM:618372
HP:0002577	Abnormal stomach morphology	1244	ABCC2	ORPHA:234
HP:0002577	Abnormal stomach morphology	6804	STX1A	ORPHA:904
HP:0002577	Abnormal stomach morphology	7461	CLIP2	ORPHA:904
HP:0002577	Abnormal stomach morphology	84277	DNAJC30	ORPHA:904
HP:0002577	Abnormal stomach morphology	8468	FKBP6	ORPHA:904
HP:0002577	Abnormal stomach morphology	5982	RFC2	ORPHA:904
HP:0002577	Abnormal stomach morphology	2969	GTF2I	ORPHA:904
HP:0002577	Abnormal stomach morphology	3984	LIMK1	ORPHA:904
HP:0002577	Abnormal stomach morphology	9569	GTF2IRD1	ORPHA:904
HP:0002577	Abnormal stomach morphology	155382	VPS37D	ORPHA:904
HP:0002577	Abnormal stomach morphology	155368	METTL27	ORPHA:904
HP:0002577	Abnormal stomach morphology	114049	BUD23	ORPHA:904
HP:0002577	Abnormal stomach morphology	7458	EIF4H	ORPHA:904
HP:0002577	Abnormal stomach morphology	84163	GTF2IRD2	ORPHA:904
HP:0002577	Abnormal stomach morphology	26608	TBL2	ORPHA:904
HP:0002577	Abnormal stomach morphology	653361	NCF1	ORPHA:904
HP:0002577	Abnormal stomach morphology	135886	TMEM270	ORPHA:904
HP:0002577	Abnormal stomach morphology	9031	BAZ1B	ORPHA:904
HP:0002577	Abnormal stomach morphology	2006	ELN	ORPHA:904
HP:0002577	Abnormal stomach morphology	3930	LBR	ORPHA:779
HP:0002577	Abnormal stomach morphology	2022	ENG	ORPHA:329971
HP:0002577	Abnormal stomach morphology	6794	STK11	OMIM:175200
HP:0002577	Abnormal stomach morphology	11277	TREX1	OMIM:225750
HP:0002577	Abnormal stomach morphology	4437	MSH3	ORPHA:480536
HP:0002577	Abnormal stomach morphology	3655	ITGA6	ORPHA:79403
HP:0002577	Abnormal stomach morphology	3655	ITGA6	OMIM:619817
HP:0002577	Abnormal stomach morphology	3691	ITGB4	ORPHA:79403
HP:0002577	Abnormal stomach morphology	3691	ITGB4	OMIM:226730
HP:0002577	Abnormal stomach morphology	3691	ITGB4	ORPHA:158684
HP:0002577	Abnormal stomach morphology	5339	PLEC	OMIM:612138
HP:0002577	Abnormal stomach morphology	5339	PLEC	OMIM:226730
HP:0002577	Abnormal stomach morphology	5339	PLEC	ORPHA:158684
HP:0002577	Abnormal stomach morphology	5727	PTCH1	OMIM:109400
HP:0002577	Abnormal stomach morphology	2694	CBLIF	OMIM:261000
HP:0002577	Abnormal stomach morphology	2000	ELF4	OMIM:301074
HP:0002577	Abnormal stomach morphology	3514	IGKC	ORPHA:183675
HP:0002577	Abnormal stomach morphology	3501	IGHG2	ORPHA:183675
HP:0002577	Abnormal stomach morphology	54914	FOCAD	OMIM:619991
HP:0002577	Abnormal stomach morphology	9652	SKIC3	ORPHA:84064
HP:0002577	Abnormal stomach morphology	6499	SKIC2	ORPHA:84064
HP:0002577	Abnormal stomach morphology	6850	SYK	OMIM:619381
HP:0002577	Abnormal stomach morphology	50943	FOXP3	ORPHA:37042
HP:0002577	Abnormal stomach morphology	355	FAS	ORPHA:3261
HP:0002577	Abnormal stomach morphology	356	FASLG	ORPHA:3261
HP:0002577	Abnormal stomach morphology	843	CASP10	ORPHA:3261
HP:0002577	Abnormal stomach morphology	8737	RIPK1	OMIM:618108
HP:0002577	Abnormal stomach morphology	22900	CARD8	OMIM:619079
HP:0002577	Abnormal stomach morphology	4072	EPCAM	ORPHA:144
HP:0002577	Abnormal stomach morphology	4292	MLH1	ORPHA:144
HP:0002577	Abnormal stomach morphology	5395	PMS2	ORPHA:144
HP:0002577	Abnormal stomach morphology	7048	TGFBR2	ORPHA:144
HP:0002577	Abnormal stomach morphology	3845	KRAS	ORPHA:144
HP:0002577	Abnormal stomach morphology	5290	PIK3CA	ORPHA:144
HP:0002577	Abnormal stomach morphology	5290	PIK3CA	OMIM:114500
HP:0002577	Abnormal stomach morphology	2956	MSH6	ORPHA:144
HP:0002577	Abnormal stomach morphology	5378	PMS1	ORPHA:144
HP:0002577	Abnormal stomach morphology	4436	MSH2	ORPHA:144
HP:0002577	Abnormal stomach morphology	699	BUB1	OMIM:114500
HP:0002577	Abnormal stomach morphology	581	BAX	OMIM:114500
HP:0002577	Abnormal stomach morphology	25788	RAD54B	OMIM:114500
HP:0002577	Abnormal stomach morphology	5795	PTPRJ	OMIM:114500
HP:0002577	Abnormal stomach morphology	5157	PDGFRL	OMIM:114500
HP:0002577	Abnormal stomach morphology	1630	DCC	OMIM:114500
HP:0002577	Abnormal stomach morphology	207	AKT1	OMIM:114500
HP:0002577	Abnormal stomach morphology	7157	TP53	OMIM:114500
HP:0002577	Abnormal stomach morphology	673	BRAF	OMIM:114500
HP:0002577	Abnormal stomach morphology	10395	DLC1	OMIM:114500
HP:0002577	Abnormal stomach morphology	8313	AXIN2	OMIM:114500
HP:0002577	Abnormal stomach morphology	4163	MCC	OMIM:114500
HP:0002577	Abnormal stomach morphology	2261	FGFR3	OMIM:114500
HP:0002577	Abnormal stomach morphology	201163	FLCN	OMIM:114500
HP:0002577	Abnormal stomach morphology	595	CCND1	OMIM:114500
HP:0002577	Abnormal stomach morphology	7097	TLR2	OMIM:114500
HP:0002577	Abnormal stomach morphology	6714	SRC	OMIM:114500
HP:0002577	Abnormal stomach morphology	2033	EP300	OMIM:114500
HP:0002577	Abnormal stomach morphology	27030	MLH3	OMIM:114500
HP:0002577	Abnormal stomach morphology	5320	PLA2G2A	OMIM:114500
HP:0002577	Abnormal stomach morphology	1499	CTNNB1	OMIM:114500
HP:0002577	Abnormal stomach morphology	6790	AURKA	OMIM:114500
HP:0002577	Abnormal stomach morphology	4893	NRAS	OMIM:114500
HP:0002577	Abnormal stomach morphology	324	APC	OMIM:114500
HP:0002577	Abnormal stomach morphology	701	BUB1B	OMIM:114500
HP:0002577	Abnormal stomach morphology	5782	PTPN12	OMIM:114500
HP:0002577	Abnormal stomach morphology	8314	BAP1	ORPHA:618
HP:0002577	Abnormal stomach morphology	4286	MITF	ORPHA:618
HP:0002577	Abnormal stomach morphology	1019	CDK4	ORPHA:618
HP:0002577	Abnormal stomach morphology	4255	MGMT	ORPHA:618
HP:0002577	Abnormal stomach morphology	54386	TERF2IP	ORPHA:618
HP:0002577	Abnormal stomach morphology	4157	MC1R	ORPHA:618
HP:0002577	Abnormal stomach morphology	65057	ACD	ORPHA:618
HP:0002577	Abnormal stomach morphology	1029	CDKN2A	ORPHA:618
HP:0002577	Abnormal stomach morphology	7015	TERT	ORPHA:618
HP:0002577	Abnormal stomach morphology	25913	POT1	ORPHA:618
HP:0002577	Abnormal stomach morphology	1030	CDKN2B	ORPHA:618
HP:0002577	Abnormal stomach morphology	657	BMPR1A	OMIM:174900
HP:0002577	Abnormal stomach morphology	4089	SMAD4	OMIM:174900
HP:0002577	Abnormal stomach morphology	6389	SDHA	ORPHA:44890
HP:0002577	Abnormal stomach morphology	6390	SDHB	ORPHA:44890
HP:0002577	Abnormal stomach morphology	6391	SDHC	ORPHA:44890
HP:0002577	Abnormal stomach morphology	5156	PDGFRA	ORPHA:44890
HP:0002577	Abnormal stomach morphology	3815	KIT	ORPHA:44890
HP:0002577	Abnormal stomach morphology	5573	PRKAR1A	ORPHA:1359
HP:0002577	Abnormal stomach morphology	50940	PDE11A	ORPHA:1359
HP:0002577	Abnormal stomach morphology	641	BLM	ORPHA:125
HP:0002577	Abnormal stomach morphology	9184	BUB3	ORPHA:1052
HP:0002577	Abnormal stomach morphology	9702	CEP57	ORPHA:1052
HP:0002577	Abnormal stomach morphology	9319	TRIP13	ORPHA:1052
HP:0002577	Abnormal stomach morphology	999	CDH1	OMIM:137215
HP:0002577	Abnormal stomach morphology	64218	SEMA4A	ORPHA:440437
HP:0002577	Abnormal stomach morphology	472	ATM	ORPHA:440437
HP:0002577	Abnormal stomach morphology	5426	POLE	ORPHA:440437
HP:0002577	Abnormal stomach morphology	675	BRCA2	ORPHA:440437
HP:0002577	Abnormal stomach morphology	6224	RPS20	ORPHA:440437
HP:0002577	Abnormal stomach morphology	4595	MUTYH	ORPHA:440437
HP:0002577	Abnormal stomach morphology	4595	MUTYH	OMIM:613659
HP:0002577	Abnormal stomach morphology	5424	POLD1	ORPHA:440437
HP:0002577	Abnormal stomach morphology	11200	CHEK2	ORPHA:440437
HP:0002577	Abnormal stomach morphology	11200	CHEK2	ORPHA:524
HP:0002577	Abnormal stomach morphology	11200	CHEK2	OMIM:609265
HP:0002577	Abnormal stomach morphology	3553	IL1B	OMIM:613659
HP:0002577	Abnormal stomach morphology	2064	ERBB2	OMIM:613659
HP:0002577	Abnormal stomach morphology	3557	IL1RN	OMIM:613659
HP:0002577	Abnormal stomach morphology	3659	IRF1	OMIM:613659
HP:0002577	Abnormal stomach morphology	1316	KLF6	OMIM:613659
HP:0002577	Abnormal stomach morphology	7373	COL14A1	ORPHA:79501
HP:0002577	Abnormal stomach morphology	79719	AAGAB	ORPHA:79501
HP:0002577	Abnormal stomach morphology	4193	MDM2	ORPHA:524
HP:0002577	Abnormal stomach morphology	5265	SERPINA1	OMIM:613490
HP:0002577	Abnormal stomach morphology	8915	BCL10	OMIM:137245
HP:0002577	Abnormal stomach morphology	10526	IPO8	OMIM:619472
HP:0002577	Abnormal stomach morphology	54894	RNF43	ORPHA:157798
HP:0002577	Abnormal stomach morphology	2202	EFEMP1	OMIM:620780
HP:0002578	Gastroparesis	291	SLC25A4	ORPHA:254892
HP:0002578	Gastroparesis	5428	POLG	ORPHA:254892
HP:0002578	Gastroparesis	5428	POLG	OMIM:603041
HP:0002578	Gastroparesis	5428	POLG	ORPHA:70595
HP:0002578	Gastroparesis	5428	POLG	OMIM:157640
HP:0002578	Gastroparesis	5428	POLG	OMIM:607459
HP:0002578	Gastroparesis	56652	TWNK	ORPHA:254892
HP:0002578	Gastroparesis	56652	TWNK	ORPHA:70595
HP:0002578	Gastroparesis	56652	TWNK	OMIM:607459
HP:0002578	Gastroparesis	11232	POLG2	ORPHA:254892
HP:0002578	Gastroparesis	11232	POLG2	OMIM:610131
HP:0002578	Gastroparesis	50484	RRM2B	ORPHA:254892
HP:0002578	Gastroparesis	4629	MYH11	OMIM:619350
HP:0002578	Gastroparesis	6638	SNRPN	ORPHA:177904
HP:0002578	Gastroparesis	6638	SNRPN	ORPHA:177901
HP:0002578	Gastroparesis	6638	SNRPN	ORPHA:98754
HP:0002578	Gastroparesis	4692	NDN	ORPHA:177904
HP:0002578	Gastroparesis	4692	NDN	ORPHA:177901
HP:0002578	Gastroparesis	4692	NDN	ORPHA:98754
HP:0002578	Gastroparesis	54551	MAGEL2	ORPHA:177904
HP:0002578	Gastroparesis	54551	MAGEL2	ORPHA:177901
HP:0002578	Gastroparesis	54551	MAGEL2	ORPHA:98754
HP:0002578	Gastroparesis	4948	OCA2	ORPHA:177904
HP:0002578	Gastroparesis	4948	OCA2	ORPHA:177901
HP:0002578	Gastroparesis	4948	OCA2	ORPHA:98754
HP:0002578	Gastroparesis	538	ATP7A	ORPHA:198
HP:0002578	Gastroparesis	72	ACTG2	OMIM:155310
HP:0002578	Gastroparesis	6651	SON	ORPHA:500150
HP:0002578	Gastroparesis	27125	AFF4	OMIM:616368
HP:0002578	Gastroparesis	5885	RAD21	OMIM:611376
HP:0002578	Gastroparesis	6240	RRM1	OMIM:620647
HP:0002578	Gastroparesis	1890	TYMP	OMIM:603041
HP:0002578	Gastroparesis	3190	HNRNPK	ORPHA:352665
HP:0002578	Gastroparesis	3190	HNRNPK	ORPHA:453504
HP:0002578	Gastroparesis	4247	MGAT2	ORPHA:79329
HP:0002578	Gastroparesis	219972	MPEG1	OMIM:619223
HP:0002578	Gastroparesis	54968	TMEM70	OMIM:614052
HP:0002578	Gastroparesis	7543	ZFX	OMIM:301118
HP:0002578	Gastroparesis	6885	MAP3K7	OMIM:157800
HP:0002578	Gastroparesis	5610	EIF2AK2	OMIM:618877
HP:0002578	Gastroparesis	54832	VPS13C	ORPHA:2828
HP:0002578	Gastroparesis	11315	PARK7	ORPHA:2828
HP:0002578	Gastroparesis	7345	UCHL1	ORPHA:2828
HP:0002578	Gastroparesis	27429	HTRA2	ORPHA:2828
HP:0002578	Gastroparesis	120892	LRRK2	ORPHA:2828
HP:0002578	Gastroparesis	9829	DNAJC6	ORPHA:2828
HP:0002578	Gastroparesis	6622	SNCA	ORPHA:2828
HP:0002578	Gastroparesis	5420	PODXL	ORPHA:2828
HP:0002578	Gastroparesis	65018	PINK1	ORPHA:2828
HP:0002578	Gastroparesis	8867	SYNJ1	ORPHA:2828
HP:0002578	Gastroparesis	5071	PRKN	ORPHA:2828
HP:0002579	Gastrointestinal dysmotility	54809	SAMD9	OMIM:617053
HP:0002579	Gastrointestinal dysmotility	2982	GUCY1A1	OMIM:615750
HP:0002579	Gastrointestinal dysmotility	55699	IARS2	OMIM:616007
HP:0002579	Gastrointestinal dysmotility	55699	IARS2	ORPHA:436174
HP:0002579	Gastrointestinal dysmotility	6774	STAT3	OMIM:615952
HP:0002579	Gastrointestinal dysmotility	10625	IVNS1ABP	OMIM:618969
HP:0002579	Gastrointestinal dysmotility	29926	GMPPA	OMIM:615510
HP:0002579	Gastrointestinal dysmotility	29926	GMPPA	ORPHA:869
HP:0002579	Gastrointestinal dysmotility	60684	TRAPPC11	OMIM:615356
HP:0002579	Gastrointestinal dysmotility	60684	TRAPPC11	ORPHA:869
HP:0002579	Gastrointestinal dysmotility	8086	AAAS	ORPHA:869
HP:0002579	Gastrointestinal dysmotility	8086	AAAS	OMIM:231550
HP:0002579	Gastrointestinal dysmotility	2717	GLA	ORPHA:324
HP:0002579	Gastrointestinal dysmotility	60	ACTB	ORPHA:79107
HP:0002579	Gastrointestinal dysmotility	60	ACTB	OMIM:607371
HP:0002579	Gastrointestinal dysmotility	4212	MEIS2	OMIM:600987
HP:0002579	Gastrointestinal dysmotility	56246	MRAP	OMIM:607398
HP:0002579	Gastrointestinal dysmotility	5428	POLG	ORPHA:298
HP:0002579	Gastrointestinal dysmotility	5428	POLG	OMIM:603041
HP:0002579	Gastrointestinal dysmotility	5428	POLG	OMIM:613662
HP:0002579	Gastrointestinal dysmotility	1890	TYMP	ORPHA:298
HP:0002579	Gastrointestinal dysmotility	1890	TYMP	OMIM:603041
HP:0002579	Gastrointestinal dysmotility	3980	LIG3	ORPHA:298
HP:0002579	Gastrointestinal dysmotility	50484	RRM2B	ORPHA:298
HP:0002579	Gastrointestinal dysmotility	4558	MT-TF	ORPHA:550
HP:0002579	Gastrointestinal dysmotility	4572	MT-TQ	ORPHA:550
HP:0002579	Gastrointestinal dysmotility	4512	MT-CO1	ORPHA:550
HP:0002579	Gastrointestinal dysmotility	4513	MT-CO2	ORPHA:550
HP:0002579	Gastrointestinal dysmotility	4514	MT-CO3	ORPHA:550
HP:0002579	Gastrointestinal dysmotility	4578	MT-TW	ORPHA:550
HP:0002579	Gastrointestinal dysmotility	4540	MT-ND5	ORPHA:550
HP:0002579	Gastrointestinal dysmotility	4541	MT-ND6	ORPHA:550
HP:0002579	Gastrointestinal dysmotility	4535	MT-ND1	ORPHA:550
HP:0002579	Gastrointestinal dysmotility	4538	MT-ND4	ORPHA:550
HP:0002579	Gastrointestinal dysmotility	4567	MT-TL1	ORPHA:550
HP:0002579	Gastrointestinal dysmotility	4574	MT-TS1	ORPHA:550
HP:0002579	Gastrointestinal dysmotility	4575	MT-TS2	ORPHA:550
HP:0002579	Gastrointestinal dysmotility	4564	MT-TH	ORPHA:550
HP:0002579	Gastrointestinal dysmotility	28982	FLVCR1	ORPHA:88628
HP:0002579	Gastrointestinal dysmotility	6651	SON	ORPHA:500150
HP:0002579	Gastrointestinal dysmotility	816	CAMK2B	OMIM:617799
HP:0002579	Gastrointestinal dysmotility	815	CAMK2A	OMIM:617798
HP:0002579	Gastrointestinal dysmotility	6240	RRM1	OMIM:620647
HP:0002579	Gastrointestinal dysmotility	59335	PRDM12	OMIM:616488
HP:0002579	Gastrointestinal dysmotility	4358	MPV17	OMIM:256810
HP:0002579	Gastrointestinal dysmotility	773	CACNA1A	ORPHA:2131
HP:0002579	Gastrointestinal dysmotility	6507	SLC1A3	ORPHA:2131
HP:0002579	Gastrointestinal dysmotility	477	ATP1A2	ORPHA:2131
HP:0002579	Gastrointestinal dysmotility	478	ATP1A3	ORPHA:2131
HP:0002579	Gastrointestinal dysmotility	3190	HNRNPK	ORPHA:352665
HP:0002579	Gastrointestinal dysmotility	3190	HNRNPK	ORPHA:453504
HP:0002579	Gastrointestinal dysmotility	128989	TANGO2	ORPHA:480864
HP:0002579	Gastrointestinal dysmotility	9203	ZMYM3	OMIM:301111
HP:0002579	Gastrointestinal dysmotility	1717	DHCR7	OMIM:270400
HP:0002579	Gastrointestinal dysmotility	1019	CDK4	ORPHA:99971
HP:0002579	Gastrointestinal dysmotility	4193	MDM2	ORPHA:99971
HP:0002579	Gastrointestinal dysmotility	8091	HMGA2	ORPHA:99971
HP:0002579	Gastrointestinal dysmotility	7466	WFS1	ORPHA:411590
HP:0002579	Gastrointestinal dysmotility	25828	TXN2	ORPHA:478029
HP:0002579	Gastrointestinal dysmotility	55148	UBR7	OMIM:619189
HP:0002579	Gastrointestinal dysmotility	101060691	NUTM2B-AS1	OMIM:618637
HP:0002579	Gastrointestinal dysmotility	2521	FUS	ORPHA:99967
HP:0002579	Gastrointestinal dysmotility	1649	DDIT3	ORPHA:99967
HP:0002579	Gastrointestinal dysmotility	3028	HSD17B10	ORPHA:391428
HP:0002579	Gastrointestinal dysmotility	91574	MTRFR	ORPHA:254930
HP:0002579	Gastrointestinal dysmotility	91574	MTRFR	OMIM:613559
HP:0002579	Gastrointestinal dysmotility	2184	FAH	OMIM:276700
HP:0002579	Gastrointestinal dysmotility	10092	ARPC5	OMIM:620565
HP:0002579	Gastrointestinal dysmotility	1080	CFTR	OMIM:219700
HP:0002579	Gastrointestinal dysmotility	2212	FCGR2A	OMIM:219700
HP:0002579	Gastrointestinal dysmotility	7040	TGFB1	OMIM:219700
HP:0002579	Gastrointestinal dysmotility	6535	SLC6A8	OMIM:300352
HP:0002579	Gastrointestinal dysmotility	6535	SLC6A8	ORPHA:52503
HP:0002579	Gastrointestinal dysmotility	2130	EWSR1	ORPHA:83469
HP:0002579	Gastrointestinal dysmotility	7490	WT1	ORPHA:83469
HP:0002579	Gastrointestinal dysmotility	50943	FOXP3	ORPHA:37042
HP:0002579	Gastrointestinal dysmotility	50943	FOXP3	OMIM:304790
HP:0002579	Gastrointestinal dysmotility	6663	SOX10	ORPHA:163746
HP:0002579	Gastrointestinal dysmotility	6663	SOX10	OMIM:609136
HP:0002579	Gastrointestinal dysmotility	284119	CAVIN1	OMIM:613327
HP:0002579	Gastrointestinal dysmotility	5498	PPOX	ORPHA:79473
HP:0002579	Gastrointestinal dysmotility	3145	HMBS	ORPHA:79276
HP:0002579	Gastrointestinal dysmotility	26153	KIF26A	OMIM:620156
HP:0002579	Gastrointestinal dysmotility	4629	MYH11	OMIM:619350
HP:0002579	Gastrointestinal dysmotility	56652	TWNK	OMIM:607459
HP:0002579	Gastrointestinal dysmotility	56652	TWNK	ORPHA:70595
HP:0002579	Gastrointestinal dysmotility	72	ACTG2	OMIM:155310
HP:0002579	Gastrointestinal dysmotility	2316	FLNA	OMIM:300048
HP:0002579	Gastrointestinal dysmotility	151648	SGO1	OMIM:616201
HP:0002579	Gastrointestinal dysmotility	6608	SMO	OMIM:601707
HP:0002579	Gastrointestinal dysmotility	3423	IDS	OMIM:309900
HP:0002579	Gastrointestinal dysmotility	672	BRCA1	ORPHA:1333
HP:0002579	Gastrointestinal dysmotility	285282	RABL3	ORPHA:1333
HP:0002579	Gastrointestinal dysmotility	7157	TP53	ORPHA:1333
HP:0002579	Gastrointestinal dysmotility	675	BRCA2	ORPHA:1333
HP:0002579	Gastrointestinal dysmotility	3845	KRAS	ORPHA:1333
HP:0002579	Gastrointestinal dysmotility	1029	CDKN2A	ORPHA:1333
HP:0002579	Gastrointestinal dysmotility	79728	PALB2	ORPHA:1333
HP:0002579	Gastrointestinal dysmotility	4089	SMAD4	ORPHA:1333
HP:0002579	Gastrointestinal dysmotility	23022	PALLD	ORPHA:1333
HP:0002579	Gastrointestinal dysmotility	5885	RAD21	OMIM:611376
HP:0002579	Gastrointestinal dysmotility	2065	ERBB3	OMIM:243180
HP:0002579	Gastrointestinal dysmotility	6572	SLC18A3	OMIM:617239
HP:0002579	Gastrointestinal dysmotility	2984	GUCY2C	OMIM:614665
HP:0002579	Gastrointestinal dysmotility	6804	STX1A	ORPHA:586
HP:0002579	Gastrointestinal dysmotility	2947	GSTM3	ORPHA:586
HP:0002579	Gastrointestinal dysmotility	2729	GCLC	ORPHA:586
HP:0002579	Gastrointestinal dysmotility	1084	CEACAM3	ORPHA:586
HP:0002579	Gastrointestinal dysmotility	6556	SLC11A1	ORPHA:586
HP:0002579	Gastrointestinal dysmotility	51164	DCTN4	ORPHA:586
HP:0002579	Gastrointestinal dysmotility	3783	KCNN4	ORPHA:586
HP:0002579	Gastrointestinal dysmotility	4282	MIF	ORPHA:586
HP:0002579	Gastrointestinal dysmotility	1909	EDNRA	ORPHA:586
HP:0002579	Gastrointestinal dysmotility	6550	SLC9A3	ORPHA:586
HP:0002579	Gastrointestinal dysmotility	3162	HMOX1	ORPHA:586
HP:0002579	Gastrointestinal dysmotility	115019	SLC26A9	ORPHA:586
HP:0002579	Gastrointestinal dysmotility	3077	HFE	ORPHA:586
HP:0002579	Gastrointestinal dysmotility	11254	SLC6A14	ORPHA:586
HP:0002579	Gastrointestinal dysmotility	5265	SERPINA1	ORPHA:586
HP:0002579	Gastrointestinal dysmotility	22802	CLCA4	ORPHA:586
HP:0002579	Gastrointestinal dysmotility	4680	CEACAM6	ORPHA:586
HP:0002579	Gastrointestinal dysmotility	283446	MYO1H	OMIM:619482
HP:0002579	Gastrointestinal dysmotility	1371	CPOX	ORPHA:79273
HP:0002579	Gastrointestinal dysmotility	79827	CLMP	OMIM:615237
HP:0002579	Gastrointestinal dysmotility	8929	PHOX2B	OMIM:209880
HP:0002579	Gastrointestinal dysmotility	25802	LMOD1	ORPHA:2241
HP:0002579	Gastrointestinal dysmotility	4638	MYLK	ORPHA:2241
HP:0002579	Gastrointestinal dysmotility	59	ACTA2	OMIM:613834
HP:0002579	Gastrointestinal dysmotility	1288	COL4A6	ORPHA:1018
HP:0002579	Gastrointestinal dysmotility	1287	COL4A5	ORPHA:1018
HP:0002579	Gastrointestinal dysmotility	10398	MYL9	OMIM:619365
HP:0020155	Abnormal oocyte morphology	24145	PANX1	ORPHA:488191
HP:0020155	Abnormal oocyte morphology	494551	WEE2	ORPHA:488191
HP:0020155	Abnormal oocyte morphology	197135	PATL2	ORPHA:488191
HP:0020155	Abnormal oocyte morphology	347688	TUBB8	ORPHA:488191
HP:0020155	Abnormal oocyte morphology	7783	ZP2	OMIM:618353
HP:0020155	Abnormal oocyte morphology	22917	ZP1	OMIM:615774
HP:0020156	Abnormal zona pellucida morphology	7783	ZP2	OMIM:618353
HP:0020156	Abnormal zona pellucida morphology	22917	ZP1	OMIM:615774
HP:0020157	Thin zona pellucida	7783	ZP2	OMIM:618353
HP:0020159	Reduced response to gonadotropin-releasing hormone stimulation test	4808	NHLH2	OMIM:619755
HP:0020159	Reduced response to gonadotropin-releasing hormone stimulation test	389549	FEZF1	OMIM:616030
HP:0020152	Distal joint hypermobility	1311	COMP	ORPHA:750
HP:0020152	Distal joint hypermobility	1305	COL13A1	OMIM:616720
HP:0020152	Distal joint hypermobility	79912	PYROXD1	OMIM:617258
HP:0020152	Distal joint hypermobility	85365	ALG2	OMIM:616228
HP:0020152	Distal joint hypermobility	1303	COL12A1	OMIM:616471
HP:0020152	Distal joint hypermobility	1291	COL6A1	OMIM:254090
HP:0020152	Distal joint hypermobility	78987	CRELD1	OMIM:620771
HP:0020152	Distal joint hypermobility	5351	PLOD1	ORPHA:1900
HP:0020152	Distal joint hypermobility	1293	COL6A3	OMIM:620728
HP:0020151	Anti-dsDNA antibody positivity	1776	DNASE1L3	OMIM:614420
HP:0020151	Anti-dsDNA antibody positivity	9056	SLC7A7	ORPHA:470
HP:0020151	Anti-dsDNA antibody positivity	54	ACP5	ORPHA:1855
HP:0020151	Anti-dsDNA antibody positivity	2215	FCGR3B	ORPHA:536
HP:0020151	Anti-dsDNA antibody positivity	6775	STAT4	ORPHA:536
HP:0020151	Anti-dsDNA antibody positivity	3684	ITGAM	ORPHA:536
HP:0020151	Anti-dsDNA antibody positivity	3586	IL10	ORPHA:536
HP:0020151	Anti-dsDNA antibody positivity	221895	JAZF1	ORPHA:536
HP:0020151	Anti-dsDNA antibody positivity	11277	TREX1	ORPHA:536
HP:0020151	Anti-dsDNA antibody positivity	7292	TNFSF4	ORPHA:536
HP:0020151	Anti-dsDNA antibody positivity	640	BLK	ORPHA:536
HP:0020151	Anti-dsDNA antibody positivity	720	C4A	ORPHA:536
HP:0020151	Anti-dsDNA antibody positivity	55024	BANK1	ORPHA:536
HP:0020151	Anti-dsDNA antibody positivity	3500	IGHG1	ORPHA:536
HP:0020151	Anti-dsDNA antibody positivity	3654	IRAK1	ORPHA:536
HP:0020151	Anti-dsDNA antibody positivity	1493	CTLA4	ORPHA:536
HP:0020151	Anti-dsDNA antibody positivity	26191	PTPN22	ORPHA:536
HP:0020151	Anti-dsDNA antibody positivity	1380	CR2	ORPHA:536
HP:0020151	Anti-dsDNA antibody positivity	5133	PDCD1	ORPHA:536
HP:0020151	Anti-dsDNA antibody positivity	2113	ETS1	ORPHA:536
HP:0020151	Anti-dsDNA antibody positivity	2213	FCGR2B	ORPHA:536
HP:0020151	Anti-dsDNA antibody positivity	10318	TNIP1	ORPHA:536
HP:0020151	Anti-dsDNA antibody positivity	7332	UBE2L3	ORPHA:536
HP:0020151	Anti-dsDNA antibody positivity	79932	KIAA0319L	ORPHA:536
HP:0020151	Anti-dsDNA antibody positivity	4204	MECP2	ORPHA:536
HP:0020151	Anti-dsDNA antibody positivity	3663	IRF5	ORPHA:536
HP:0020151	Anti-dsDNA antibody positivity	3123	HLA-DRB1	ORPHA:536
HP:0020151	Anti-dsDNA antibody positivity	721	C4B	ORPHA:536
HP:0020151	Anti-dsDNA antibody positivity	1773	DNASE1	ORPHA:536
HP:0020151	Anti-dsDNA antibody positivity	51284	TLR7	ORPHA:536
HP:0020151	Anti-dsDNA antibody positivity	6696	SPP1	ORPHA:536
HP:0020151	Anti-dsDNA antibody positivity	54899	PXK	ORPHA:536
HP:0020151	Anti-dsDNA antibody positivity	7128	TNFAIP3	ORPHA:536
HP:0020151	Anti-dsDNA antibody positivity	8651	SOCS1	OMIM:619375
HP:0020154	Nevus comedonicus	91754	NEK9	OMIM:617025
HP:0002580	Volvulus	9203	ZMYM3	OMIM:301111
HP:0002580	Volvulus	23476	BRD4	ORPHA:199
HP:0002580	Volvulus	9126	SMC3	ORPHA:199
HP:0002580	Volvulus	8243	SMC1A	ORPHA:199
HP:0002580	Volvulus	6878	TAF6	ORPHA:199
HP:0002580	Volvulus	25836	NIPBL	ORPHA:199
HP:0002580	Volvulus	55869	HDAC8	ORPHA:199
HP:0002580	Volvulus	5885	RAD21	ORPHA:199
HP:0002580	Volvulus	129563	DIS3L2	OMIM:267000
HP:0002580	Volvulus	4629	MYH11	OMIM:619350
HP:0002580	Volvulus	2294	FOXF1	ORPHA:210122
HP:0002580	Volvulus	2132	EXT2	OMIM:616682
HP:0002580	Volvulus	7010	TEK	ORPHA:1059
HP:0002580	Volvulus	738	VPS51	OMIM:618606
HP:0002580	Volvulus	55690	PACS1	OMIM:615009
HP:0002580	Volvulus	7407	VARS1	OMIM:617802
HP:0002580	Volvulus	546	ATRX	ORPHA:847
HP:0002580	Volvulus	1131	CHRM3	ORPHA:2970
HP:0002580	Volvulus	1174	AP1S1	OMIM:609313
HP:0002580	Volvulus	2202	EFEMP1	OMIM:620780
HP:0001738	Exocrine pancreatic insufficiency	3767	KCNJ11	ORPHA:552
HP:0001738	Exocrine pancreatic insufficiency	8462	KLF11	ORPHA:552
HP:0001738	Exocrine pancreatic insufficiency	2645	GCK	ORPHA:552
HP:0001738	Exocrine pancreatic insufficiency	26060	APPL1	ORPHA:552
HP:0001738	Exocrine pancreatic insufficiency	640	BLK	ORPHA:552
HP:0001738	Exocrine pancreatic insufficiency	1056	CEL	ORPHA:552
HP:0001738	Exocrine pancreatic insufficiency	1056	CEL	OMIM:609812
HP:0001738	Exocrine pancreatic insufficiency	4760	NEUROD1	ORPHA:552
HP:0001738	Exocrine pancreatic insufficiency	3651	PDX1	ORPHA:552
HP:0001738	Exocrine pancreatic insufficiency	3651	PDX1	OMIM:260370
HP:0001738	Exocrine pancreatic insufficiency	6833	ABCC8	ORPHA:552
HP:0001738	Exocrine pancreatic insufficiency	5078	PAX4	ORPHA:552
HP:0001738	Exocrine pancreatic insufficiency	3172	HNF4A	ORPHA:552
HP:0001738	Exocrine pancreatic insufficiency	6927	HNF1A	ORPHA:552
HP:0001738	Exocrine pancreatic insufficiency	3630	INS	ORPHA:552
HP:0001738	Exocrine pancreatic insufficiency	170302	ARX	ORPHA:452
HP:0001738	Exocrine pancreatic insufficiency	22827	PUF60	ORPHA:508498
HP:0001738	Exocrine pancreatic insufficiency	22827	PUF60	ORPHA:508488
HP:0001738	Exocrine pancreatic insufficiency	1497	CTNS	OMIM:219800
HP:0001738	Exocrine pancreatic insufficiency	1080	CFTR	OMIM:219700
HP:0001738	Exocrine pancreatic insufficiency	1080	CFTR	OMIM:167800
HP:0001738	Exocrine pancreatic insufficiency	1080	CFTR	ORPHA:586
HP:0001738	Exocrine pancreatic insufficiency	2212	FCGR2A	OMIM:219700
HP:0001738	Exocrine pancreatic insufficiency	7040	TGFB1	OMIM:219700
HP:0001738	Exocrine pancreatic insufficiency	7040	TGFB1	ORPHA:586
HP:0001738	Exocrine pancreatic insufficiency	51651	PTRH2	OMIM:616263
HP:0001738	Exocrine pancreatic insufficiency	51651	PTRH2	ORPHA:456312
HP:0001738	Exocrine pancreatic insufficiency	57003	CCDC47	OMIM:618268
HP:0001738	Exocrine pancreatic insufficiency	134218	DNAJC21	OMIM:617052
HP:0001738	Exocrine pancreatic insufficiency	134218	DNAJC21	OMIM:260400
HP:0001738	Exocrine pancreatic insufficiency	134218	DNAJC21	ORPHA:811
HP:0001738	Exocrine pancreatic insufficiency	23019	CNOT1	OMIM:618500
HP:0001738	Exocrine pancreatic insufficiency	537	ATP6AP1	OMIM:300972
HP:0001738	Exocrine pancreatic insufficiency	6928	HNF1B	OMIM:137920
HP:0001738	Exocrine pancreatic insufficiency	54914	FOCAD	OMIM:619991
HP:0001738	Exocrine pancreatic insufficiency	7468	NSD2	OMIM:619695
HP:0001738	Exocrine pancreatic insufficiency	8565	YARS1	OMIM:619418
HP:0001738	Exocrine pancreatic insufficiency	6774	STAT3	OMIM:615952
HP:0001738	Exocrine pancreatic insufficiency	2627	GATA6	ORPHA:2255
HP:0001738	Exocrine pancreatic insufficiency	5557	PRIM1	OMIM:620005
HP:0001738	Exocrine pancreatic insufficiency	256297	PTF1A	OMIM:615935
HP:0001738	Exocrine pancreatic insufficiency	8481	OFD1	ORPHA:2750
HP:0001738	Exocrine pancreatic insufficiency	9451	EIF2AK3	ORPHA:1667
HP:0001738	Exocrine pancreatic insufficiency	11330	CTRC	OMIM:167800
HP:0001738	Exocrine pancreatic insufficiency	5645	PRSS2	OMIM:167800
HP:0001738	Exocrine pancreatic insufficiency	5644	PRSS1	OMIM:167800
HP:0001738	Exocrine pancreatic insufficiency	6690	SPINK1	OMIM:167800
HP:0001738	Exocrine pancreatic insufficiency	197131	UBR1	ORPHA:2315
HP:0001738	Exocrine pancreatic insufficiency	197131	UBR1	OMIM:243800
HP:0001738	Exocrine pancreatic insufficiency	6804	STX1A	ORPHA:586
HP:0001738	Exocrine pancreatic insufficiency	2947	GSTM3	ORPHA:586
HP:0001738	Exocrine pancreatic insufficiency	2729	GCLC	ORPHA:586
HP:0001738	Exocrine pancreatic insufficiency	1084	CEACAM3	ORPHA:586
HP:0001738	Exocrine pancreatic insufficiency	6556	SLC11A1	ORPHA:586
HP:0001738	Exocrine pancreatic insufficiency	51164	DCTN4	ORPHA:586
HP:0001738	Exocrine pancreatic insufficiency	3783	KCNN4	ORPHA:586
HP:0001738	Exocrine pancreatic insufficiency	4282	MIF	ORPHA:586
HP:0001738	Exocrine pancreatic insufficiency	1909	EDNRA	ORPHA:586
HP:0001738	Exocrine pancreatic insufficiency	6550	SLC9A3	ORPHA:586
HP:0001738	Exocrine pancreatic insufficiency	3162	HMOX1	ORPHA:586
HP:0001738	Exocrine pancreatic insufficiency	115019	SLC26A9	ORPHA:586
HP:0001738	Exocrine pancreatic insufficiency	3077	HFE	ORPHA:586
HP:0001738	Exocrine pancreatic insufficiency	11254	SLC6A14	ORPHA:586
HP:0001738	Exocrine pancreatic insufficiency	5265	SERPINA1	ORPHA:586
HP:0001738	Exocrine pancreatic insufficiency	22802	CLCA4	ORPHA:586
HP:0001738	Exocrine pancreatic insufficiency	4680	CEACAM6	ORPHA:586
HP:0001738	Exocrine pancreatic insufficiency	8567	MADD	OMIM:619004
HP:0001738	Exocrine pancreatic insufficiency	6729	SRP54	OMIM:618752
HP:0001738	Exocrine pancreatic insufficiency	6729	SRP54	OMIM:260400
HP:0001738	Exocrine pancreatic insufficiency	51119	SBDS	OMIM:260400
HP:0001738	Exocrine pancreatic insufficiency	51119	SBDS	ORPHA:811
HP:0001738	Exocrine pancreatic insufficiency	79631	EFL1	OMIM:617941
HP:0001738	Exocrine pancreatic insufficiency	79631	EFL1	ORPHA:811
HP:0001738	Exocrine pancreatic insufficiency	672	BRCA1	ORPHA:1333
HP:0001738	Exocrine pancreatic insufficiency	285282	RABL3	ORPHA:1333
HP:0001738	Exocrine pancreatic insufficiency	7157	TP53	ORPHA:1333
HP:0001738	Exocrine pancreatic insufficiency	675	BRCA2	ORPHA:1333
HP:0001738	Exocrine pancreatic insufficiency	3845	KRAS	ORPHA:1333
HP:0001738	Exocrine pancreatic insufficiency	1029	CDKN2A	ORPHA:1333
HP:0001738	Exocrine pancreatic insufficiency	79728	PALB2	ORPHA:1333
HP:0001738	Exocrine pancreatic insufficiency	4089	SMAD4	ORPHA:1333
HP:0001738	Exocrine pancreatic insufficiency	23022	PALLD	ORPHA:1333
HP:0001738	Exocrine pancreatic insufficiency	57570	TRMT5	OMIM:616539
HP:0001738	Exocrine pancreatic insufficiency	182	JAG1	OMIM:118450
HP:0001738	Exocrine pancreatic insufficiency	84701	COX4I2	OMIM:612714
HP:0002582	Atrophic gastritis	4790	NFKB1	OMIM:616576
HP:0002582	Atrophic gastritis	64135	IFIH1	OMIM:615846
HP:0002582	Atrophic gastritis	987	LRBA	OMIM:614700
HP:0002582	Atrophic gastritis	326	AIRE	OMIM:240300
HP:0002582	Atrophic gastritis	50619	DEF6	OMIM:619573
HP:0002582	Atrophic gastritis	1493	CTLA4	OMIM:616100
HP:0002582	Atrophic gastritis	1493	CTLA4	ORPHA:436159
HP:0002582	Atrophic gastritis	999	CDH1	OMIM:137215
HP:0002583	Colitis	9051	PSTPIP1	OMIM:604416
HP:0002583	Colitis	355	FAS	ORPHA:3261
HP:0002583	Colitis	356	FASLG	ORPHA:3261
HP:0002583	Colitis	843	CASP10	ORPHA:3261
HP:0002583	Colitis	51750	RTEL1	OMIM:615190
HP:0002583	Colitis	5422	POLA1	OMIM:301220
HP:0002583	Colitis	55612	FERMT1	ORPHA:2908
HP:0002583	Colitis	331	XIAP	OMIM:300635
HP:0002583	Colitis	331	XIAP	ORPHA:538934
HP:0002583	Colitis	7128	TNFAIP3	OMIM:616744
HP:0002583	Colitis	4261	CIITA	OMIM:209920
HP:0002583	Colitis	10625	IVNS1ABP	OMIM:618969
HP:0002583	Colitis	50943	FOXP3	ORPHA:37042
HP:0002583	Colitis	6499	SKIC2	OMIM:614602
HP:0002583	Colitis	6499	SKIC2	ORPHA:84064
HP:0002583	Colitis	3257	HPS1	OMIM:203300
HP:0002583	Colitis	987	LRBA	OMIM:614700
HP:0002583	Colitis	5293	PIK3CD	OMIM:619281
HP:0002583	Colitis	5551	PRF1	ORPHA:540
HP:0002583	Colitis	8676	STX11	ORPHA:540
HP:0002583	Colitis	201294	UNC13D	ORPHA:540
HP:0002583	Colitis	6813	STXBP2	ORPHA:540
HP:0002583	Colitis	6813	STXBP2	OMIM:613101
HP:0002583	Colitis	6850	SYK	OMIM:619381
HP:0002583	Colitis	2000	ELF4	OMIM:301074
HP:0002583	Colitis	8915	BCL10	OMIM:616098
HP:0002583	Colitis	23149	FCHO1	OMIM:619164
HP:0002583	Colitis	60468	BACH2	OMIM:618394
HP:0002583	Colitis	5699	PSMB10	OMIM:620807
HP:0002583	Colitis	146206	CARMIL2	OMIM:618131
HP:0002583	Colitis	9652	SKIC3	ORPHA:84064
HP:0002583	Colitis	7535	ZAP70	OMIM:617006
HP:0002583	Colitis	7535	ZAP70	ORPHA:911
HP:0002583	Colitis	4689	NCF4	OMIM:613960
HP:0002583	Colitis	3587	IL10RA	OMIM:613148
HP:0002583	Colitis	5294	PIK3CG	OMIM:619802
HP:0002583	Colitis	81858	SHARPIN	OMIM:620795
HP:0002583	Colitis	338328	GPIHBP1	OMIM:615947
HP:0002583	Colitis	4067	LYN	OMIM:620376
HP:0002583	Colitis	215	ABCD1	ORPHA:388
HP:0002583	Colitis	5979	RET	ORPHA:388
HP:0002583	Colitis	5979	RET	OMIM:142623
HP:0002583	Colitis	2668	GDNF	ORPHA:388
HP:0002583	Colitis	6608	SMO	ORPHA:388
HP:0002583	Colitis	1889	ECE1	ORPHA:388
HP:0002583	Colitis	6720	SREBF1	ORPHA:388
HP:0002583	Colitis	1908	EDN3	ORPHA:388
HP:0002583	Colitis	223117	SEMA3D	ORPHA:388
HP:0002583	Colitis	538	ATP7A	ORPHA:388
HP:0002583	Colitis	1910	EDNRB	ORPHA:388
HP:0002583	Colitis	10512	SEMA3C	ORPHA:388
HP:0002583	Colitis	2064	ERBB2	ORPHA:388
HP:0002583	Colitis	2065	ERBB3	ORPHA:388
HP:0002583	Colitis	4902	NRTN	ORPHA:388
HP:0002583	Colitis	58484	NLRC4	OMIM:616050
HP:0002583	Colitis	6772	STAT1	ORPHA:391487
HP:0002583	Colitis	1736	DKC1	OMIM:301108
HP:0002583	Colitis	57217	TTC7A	OMIM:243150
HP:0002583	Colitis	26873	OPLAH	OMIM:260005
HP:0002583	Colitis	55505	NOP10	OMIM:620425
HP:0002583	Colitis	5336	PLCG2	OMIM:614878
HP:0002583	Colitis	3588	IL10RB	OMIM:612567
HP:0002583	Colitis	1991	ELANE	ORPHA:2686
HP:0002583	Colitis	2542	SLC37A4	ORPHA:79259
HP:0002583	Colitis	1794	DOCK2	OMIM:616433
HP:0002583	Colitis	8547	FCN3	OMIM:613860
HP:0002583	Colitis	2271	FH	OMIM:606812
HP:0002583	Colitis	4629	MYH11	OMIM:619350
HP:0002583	Colitis	37	ACADVL	OMIM:201475
HP:0002583	Colitis	84992	PIGY	OMIM:616809
HP:0002583	Colitis	50619	DEF6	OMIM:619573
HP:0002583	Colitis	64858	DCLRE1B	OMIM:620133
HP:0002583	Colitis	7040	TGFB1	OMIM:618213
HP:0002583	Colitis	22900	CARD8	OMIM:619079
HP:0002583	Colitis	7454	WAS	OMIM:301000
HP:0002583	Colitis	139818	DOCK11	OMIM:301109
HP:0002583	Colitis	2859	GPR35	ORPHA:171
HP:0002583	Colitis	10507	SEMA4D	ORPHA:171
HP:0002583	Colitis	4485	MST1	ORPHA:171
HP:0002583	Colitis	6925	TCF4	ORPHA:171
HP:0002583	Colitis	64127	NOD2	OMIM:266600
HP:0002583	Colitis	3569	IL6	OMIM:266600
HP:0002583	Colitis	55765	INAVA	OMIM:618077
HP:0002583	Colitis	10747	MASP2	OMIM:613791
HP:0002583	Colitis	27178	IL37	OMIM:619398
HP:0002583	Colitis	79415	CYBC1	OMIM:618935
HP:0002583	Colitis	6885	MAP3K7	OMIM:617137
HP:0002583	Colitis	84433	CARD11	OMIM:617638
HP:0002584	Intestinal bleeding	324	APC	ORPHA:261584
HP:0002584	Intestinal bleeding	80169	CTC1	OMIM:612199
HP:0002584	Intestinal bleeding	7010	TEK	ORPHA:1059
HP:0002584	Intestinal bleeding	7010	TEK	OMIM:600195
HP:0002584	Intestinal bleeding	6794	STK11	OMIM:175200
HP:0002584	Intestinal bleeding	5728	PTEN	ORPHA:79076
HP:0002584	Intestinal bleeding	657	BMPR1A	ORPHA:79076
HP:0002585	Abnormal peritoneum morphology	8518	ELP1	ORPHA:1764
HP:0002585	Abnormal peritoneum morphology	4665	NAB2	ORPHA:2126
HP:0002585	Abnormal peritoneum morphology	6778	STAT6	ORPHA:2126
HP:0002585	Abnormal peritoneum morphology	596	BCL2	ORPHA:545
HP:0002585	Abnormal peritoneum morphology	3492	IGH	ORPHA:545
HP:0002585	Abnormal peritoneum morphology	3123	HLA-DRB1	ORPHA:545
HP:0002585	Abnormal peritoneum morphology	604	BCL6	ORPHA:545
HP:0002585	Abnormal peritoneum morphology	2130	EWSR1	ORPHA:83469
HP:0002585	Abnormal peritoneum morphology	7490	WT1	ORPHA:83469
HP:0002585	Abnormal peritoneum morphology	811	CALR	ORPHA:131
HP:0002585	Abnormal peritoneum morphology	3717	JAK2	ORPHA:131
HP:0002585	Abnormal peritoneum morphology	2153	F5	ORPHA:131
HP:0002585	Abnormal peritoneum morphology	4210	MEFV	OMIM:134610
HP:0002585	Abnormal peritoneum morphology	4210	MEFV	ORPHA:342
HP:0002585	Abnormal peritoneum morphology	4210	MEFV	OMIM:249100
HP:0002585	Abnormal peritoneum morphology	4629	MYH11	OMIM:619351
HP:0002585	Abnormal peritoneum morphology	54914	FOCAD	OMIM:619991
HP:0002585	Abnormal peritoneum morphology	4688	NCF2	OMIM:233710
HP:0002585	Abnormal peritoneum morphology	4598	MVK	ORPHA:343
HP:0002585	Abnormal peritoneum morphology	629	CFB	OMIM:615561
HP:0002585	Abnormal peritoneum morphology	672	BRCA1	ORPHA:168829
HP:0002585	Abnormal peritoneum morphology	7132	TNFRSF1A	ORPHA:32960
HP:0002585	Abnormal peritoneum morphology	1991	ELANE	ORPHA:2686
HP:0002585	Abnormal peritoneum morphology	4868	NPHS1	ORPHA:656
HP:0002585	Abnormal peritoneum morphology	23607	CD2AP	ORPHA:656
HP:0002585	Abnormal peritoneum morphology	9688	NUP93	ORPHA:656
HP:0002585	Abnormal peritoneum morphology	4643	MYO1E	ORPHA:656
HP:0002585	Abnormal peritoneum morphology	64423	INF2	ORPHA:656
HP:0002585	Abnormal peritoneum morphology	26130	GAPVD1	ORPHA:656
HP:0002585	Abnormal peritoneum morphology	57122	NUP107	ORPHA:656
HP:0002585	Abnormal peritoneum morphology	51479	ANKFY1	ORPHA:656
HP:0002585	Abnormal peritoneum morphology	54443	ANLN	ORPHA:656
HP:0002585	Abnormal peritoneum morphology	5800	PTPRO	ORPHA:656
HP:0002585	Abnormal peritoneum morphology	286204	CRB2	ORPHA:656
HP:0002585	Abnormal peritoneum morphology	23165	NUP205	ORPHA:656
HP:0002585	Abnormal peritoneum morphology	2013	EMP2	ORPHA:656
HP:0002585	Abnormal peritoneum morphology	79023	NUP37	ORPHA:656
HP:0002585	Abnormal peritoneum morphology	51196	PLCE1	ORPHA:656
HP:0002585	Abnormal peritoneum morphology	79902	NUP85	ORPHA:656
HP:0002585	Abnormal peritoneum morphology	1285	COL4A3	ORPHA:656
HP:0002585	Abnormal peritoneum morphology	396	ARHGDIA	ORPHA:656
HP:0002585	Abnormal peritoneum morphology	79934	COQ8B	ORPHA:656
HP:0002585	Abnormal peritoneum morphology	23279	NUP160	ORPHA:656
HP:0002585	Abnormal peritoneum morphology	9863	MAGI2	ORPHA:656
HP:0002585	Abnormal peritoneum morphology	81	ACTN4	ORPHA:656
HP:0002585	Abnormal peritoneum morphology	7225	TRPC6	ORPHA:656
HP:0002585	Abnormal peritoneum morphology	8542	APOL1	ORPHA:656
HP:0002585	Abnormal peritoneum morphology	54885	TBC1D8B	ORPHA:656
HP:0002585	Abnormal peritoneum morphology	7827	NPHS2	ORPHA:656
HP:0002585	Abnormal peritoneum morphology	83478	ARHGAP24	ORPHA:656
HP:0002585	Abnormal peritoneum morphology	23500	DAAM2	ORPHA:656
HP:0002585	Abnormal peritoneum morphology	5076	PAX2	ORPHA:656
HP:0002585	Abnormal peritoneum morphology	55746	NUP133	ORPHA:656
HP:0002585	Abnormal peritoneum morphology	55315	SLC29A3	OMIM:602782
HP:0002585	Abnormal peritoneum morphology	5054	SERPINE1	ORPHA:465
HP:0002585	Abnormal peritoneum morphology	2159	F10	ORPHA:328
HP:0002585	Abnormal peritoneum morphology	8318	CDC45	OMIM:617063
HP:0002585	Abnormal peritoneum morphology	285282	RABL3	ORPHA:1333
HP:0002585	Abnormal peritoneum morphology	7157	TP53	ORPHA:1333
HP:0002585	Abnormal peritoneum morphology	675	BRCA2	ORPHA:1333
HP:0002585	Abnormal peritoneum morphology	3845	KRAS	ORPHA:1333
HP:0002585	Abnormal peritoneum morphology	1029	CDKN2A	ORPHA:1333
HP:0002585	Abnormal peritoneum morphology	79728	PALB2	ORPHA:1333
HP:0002585	Abnormal peritoneum morphology	4089	SMAD4	ORPHA:1333
HP:0002585	Abnormal peritoneum morphology	23022	PALLD	ORPHA:1333
HP:0002585	Abnormal peritoneum morphology	5297	PI4KA	ORPHA:436252
HP:0002585	Abnormal peritoneum morphology	57217	TTC7A	ORPHA:436252
HP:0002586	Peritonitis	811	CALR	ORPHA:131
HP:0002586	Peritonitis	3717	JAK2	ORPHA:131
HP:0002586	Peritonitis	2153	F5	ORPHA:131
HP:0002586	Peritonitis	4210	MEFV	OMIM:134610
HP:0002586	Peritonitis	4210	MEFV	ORPHA:342
HP:0002586	Peritonitis	4210	MEFV	OMIM:249100
HP:0002586	Peritonitis	4629	MYH11	OMIM:619351
HP:0002586	Peritonitis	54914	FOCAD	OMIM:619991
HP:0002586	Peritonitis	4688	NCF2	OMIM:233710
HP:0002586	Peritonitis	4598	MVK	ORPHA:343
HP:0002586	Peritonitis	629	CFB	OMIM:615561
HP:0002586	Peritonitis	672	BRCA1	ORPHA:168829
HP:0002586	Peritonitis	7132	TNFRSF1A	ORPHA:32960
HP:0002586	Peritonitis	1991	ELANE	ORPHA:2686
HP:0002586	Peritonitis	4868	NPHS1	ORPHA:656
HP:0002586	Peritonitis	23607	CD2AP	ORPHA:656
HP:0002586	Peritonitis	9688	NUP93	ORPHA:656
HP:0002586	Peritonitis	4643	MYO1E	ORPHA:656
HP:0002586	Peritonitis	64423	INF2	ORPHA:656
HP:0002586	Peritonitis	26130	GAPVD1	ORPHA:656
HP:0002586	Peritonitis	7490	WT1	ORPHA:656
HP:0002586	Peritonitis	57122	NUP107	ORPHA:656
HP:0002586	Peritonitis	51479	ANKFY1	ORPHA:656
HP:0002586	Peritonitis	54443	ANLN	ORPHA:656
HP:0002586	Peritonitis	5800	PTPRO	ORPHA:656
HP:0002586	Peritonitis	286204	CRB2	ORPHA:656
HP:0002586	Peritonitis	23165	NUP205	ORPHA:656
HP:0002586	Peritonitis	2013	EMP2	ORPHA:656
HP:0002586	Peritonitis	79023	NUP37	ORPHA:656
HP:0002586	Peritonitis	51196	PLCE1	ORPHA:656
HP:0002586	Peritonitis	79902	NUP85	ORPHA:656
HP:0002586	Peritonitis	1285	COL4A3	ORPHA:656
HP:0002586	Peritonitis	396	ARHGDIA	ORPHA:656
HP:0002586	Peritonitis	79934	COQ8B	ORPHA:656
HP:0002586	Peritonitis	23279	NUP160	ORPHA:656
HP:0002586	Peritonitis	9863	MAGI2	ORPHA:656
HP:0002586	Peritonitis	81	ACTN4	ORPHA:656
HP:0002586	Peritonitis	7225	TRPC6	ORPHA:656
HP:0002586	Peritonitis	8542	APOL1	ORPHA:656
HP:0002586	Peritonitis	54885	TBC1D8B	ORPHA:656
HP:0002586	Peritonitis	7827	NPHS2	ORPHA:656
HP:0002586	Peritonitis	83478	ARHGAP24	ORPHA:656
HP:0002586	Peritonitis	23500	DAAM2	ORPHA:656
HP:0002586	Peritonitis	5076	PAX2	ORPHA:656
HP:0002586	Peritonitis	55746	NUP133	ORPHA:656
HP:0002586	Peritonitis	8318	CDC45	OMIM:617063
HP:0002587	Projectile vomiting	79827	CLMP	OMIM:615237
HP:0002587	Projectile vomiting	9255	AIMP1	OMIM:260600
HP:0002587	Projectile vomiting	29928	TIMM22	OMIM:618851
HP:0002587	Projectile vomiting	55107	ANO1	OMIM:620045
HP:0002588	Duodenal ulcer	64132	XYLT2	OMIM:605822
HP:0002588	Duodenal ulcer	6850	SYK	OMIM:619381
HP:0002588	Duodenal ulcer	4221	MEN1	ORPHA:652
HP:0002588	Duodenal ulcer	1027	CDKN1B	ORPHA:652
HP:0002588	Duodenal ulcer	1026	CDKN1A	ORPHA:652
HP:0002588	Duodenal ulcer	1030	CDKN2B	ORPHA:652
HP:0002588	Duodenal ulcer	1031	CDKN2C	ORPHA:652
HP:0002588	Duodenal ulcer	6774	STAT3	OMIM:147060
HP:0002588	Duodenal ulcer	2033	EP300	OMIM:618333
HP:0002588	Duodenal ulcer	57492	ARID1B	OMIM:135900
HP:0002588	Duodenal ulcer	5321	PLA2G4A	OMIM:618372
HP:0002588	Duodenal ulcer	5340	PLG	OMIM:217090
HP:0002588	Duodenal ulcer	5340	PLG	ORPHA:722
HP:0002589	Gastrointestinal atresia	6657	SOX2	ORPHA:77298
HP:0002589	Gastrointestinal atresia	6657	SOX2	OMIM:206900
HP:0002589	Gastrointestinal atresia	6657	SOX2	ORPHA:3157
HP:0002589	Gastrointestinal atresia	7528	YY1	ORPHA:506358
HP:0002589	Gastrointestinal atresia	2294	FOXF1	OMIM:265380
HP:0002589	Gastrointestinal atresia	2263	FGFR2	ORPHA:87
HP:0002589	Gastrointestinal atresia	2263	FGFR2	OMIM:101200
HP:0002589	Gastrointestinal atresia	2177	FANCD2	OMIM:227646
HP:0002589	Gastrointestinal atresia	2072	ERCC4	OMIM:615272
HP:0002589	Gastrointestinal atresia	55120	FANCL	OMIM:614083
HP:0002589	Gastrointestinal atresia	3691	ITGB4	OMIM:226730
HP:0002589	Gastrointestinal atresia	5339	PLEC	OMIM:226730
HP:0002589	Gastrointestinal atresia	2187	FANCB	OMIM:300514
HP:0002589	Gastrointestinal atresia	2187	FANCB	OMIM:314390
HP:0002589	Gastrointestinal atresia	2187	FANCB	ORPHA:3412
HP:0002589	Gastrointestinal atresia	10606	PAICS	OMIM:619859
HP:0002589	Gastrointestinal atresia	6023	RMRP	OMIM:250250
HP:0002589	Gastrointestinal atresia	5422	POLA1	OMIM:301030
HP:0002589	Gastrointestinal atresia	55112	DYNC2I1	ORPHA:93271
HP:0002589	Gastrointestinal atresia	57560	IFT80	ORPHA:93271
HP:0002589	Gastrointestinal atresia	57539	WDR35	ORPHA:93271
HP:0002589	Gastrointestinal atresia	79659	DYNC2H1	ORPHA:93271
HP:0002589	Gastrointestinal atresia	89891	DYNC2I2	ORPHA:93271
HP:0002589	Gastrointestinal atresia	7547	ZIC3	OMIM:314390
HP:0002589	Gastrointestinal atresia	51729	WBP11	OMIM:619227
HP:0002589	Gastrointestinal atresia	55636	CHD7	OMIM:214800
HP:0002589	Gastrointestinal atresia	10046	MAMLD1	ORPHA:95706
HP:0002589	Gastrointestinal atresia	367	AR	ORPHA:95706
HP:0002589	Gastrointestinal atresia	6602	SMARCD1	OMIM:618779
HP:0002589	Gastrointestinal atresia	4990	SIX6	OMIM:206900
HP:0002589	Gastrointestinal atresia	9343	EFTUD2	OMIM:610536
HP:0002589	Gastrointestinal atresia	2260	FGFR1	ORPHA:3157
HP:0002589	Gastrointestinal atresia	128674	PROKR2	ORPHA:3157
HP:0002589	Gastrointestinal atresia	6658	SOX3	ORPHA:3157
HP:0002589	Gastrointestinal atresia	9915	ARNT2	ORPHA:3157
HP:0002589	Gastrointestinal atresia	8820	HESX1	ORPHA:3157
HP:0002589	Gastrointestinal atresia	5015	OTX2	ORPHA:3157
HP:0002589	Gastrointestinal atresia	5053	PAH	ORPHA:2209
HP:0002589	Gastrointestinal atresia	2188	FANCF	OMIM:603467
HP:0002589	Gastrointestinal atresia	28514	DLL1	ORPHA:280200
HP:0002589	Gastrointestinal atresia	2253	FGF8	ORPHA:280200
HP:0002589	Gastrointestinal atresia	6496	SIX3	ORPHA:280200
HP:0002589	Gastrointestinal atresia	7050	TGIF1	ORPHA:280200
HP:0002589	Gastrointestinal atresia	4838	NODAL	ORPHA:280200
HP:0002589	Gastrointestinal atresia	4838	NODAL	OMIM:270100
HP:0002589	Gastrointestinal atresia	6469	SHH	ORPHA:280200
HP:0002589	Gastrointestinal atresia	51684	SUFU	ORPHA:280200
HP:0002589	Gastrointestinal atresia	7546	ZIC2	ORPHA:280200
HP:0002589	Gastrointestinal atresia	2619	GAS1	ORPHA:280200
HP:0002589	Gastrointestinal atresia	84976	DISP1	ORPHA:280200
HP:0002589	Gastrointestinal atresia	2736	GLI2	ORPHA:280200
HP:0002589	Gastrointestinal atresia	8928	FOXH1	ORPHA:280200
HP:0002589	Gastrointestinal atresia	6997	CRIPTO	ORPHA:280200
HP:0002589	Gastrointestinal atresia	5727	PTCH1	ORPHA:280200
HP:0002589	Gastrointestinal atresia	50937	CDON	ORPHA:280200
HP:0002589	Gastrointestinal atresia	10735	STAG2	OMIM:301043
HP:0002589	Gastrointestinal atresia	64840	PORCN	ORPHA:2092
HP:0002589	Gastrointestinal atresia	51780	KDM3B	OMIM:618846
HP:0002589	Gastrointestinal atresia	222546	RFX6	OMIM:615710
HP:0002589	Gastrointestinal atresia	815	CAMK2A	OMIM:617798
HP:0002589	Gastrointestinal atresia	23556	PIGN	ORPHA:2059
HP:0002589	Gastrointestinal atresia	1063	CENPF	OMIM:243605
HP:0002589	Gastrointestinal atresia	25914	RTTN	ORPHA:468631
HP:0002589	Gastrointestinal atresia	1859	DYRK1A	ORPHA:464311
HP:0002589	Gastrointestinal atresia	701	BUB1B	OMIM:257300
HP:0002589	Gastrointestinal atresia	701	BUB1B	ORPHA:1052
HP:0002589	Gastrointestinal atresia	6299	SALL1	OMIM:107480
HP:0002589	Gastrointestinal atresia	9184	BUB3	ORPHA:1052
HP:0002589	Gastrointestinal atresia	699	BUB1	ORPHA:1052
HP:0002589	Gastrointestinal atresia	9702	CEP57	ORPHA:1052
HP:0002589	Gastrointestinal atresia	9702	CEP57	OMIM:614114
HP:0002589	Gastrointestinal atresia	9319	TRIP13	ORPHA:1052
HP:0002589	Gastrointestinal atresia	55159	RFWD3	OMIM:617784
HP:0002589	Gastrointestinal atresia	473	RERE	OMIM:616975
HP:0002589	Gastrointestinal atresia	55215	FANCI	OMIM:609053
HP:0002589	Gastrointestinal atresia	25790	CFAP45	OMIM:619608
HP:0002589	Gastrointestinal atresia	2313	FLI1	ORPHA:2308
HP:0002589	Gastrointestinal atresia	2201	FBN2	ORPHA:115
HP:0002589	Gastrointestinal atresia	4613	MYCN	OMIM:620748
HP:0002589	Gastrointestinal atresia	4613	MYCN	OMIM:164280
HP:0002589	Gastrointestinal atresia	4613	MYCN	ORPHA:391641
HP:0002589	Gastrointestinal atresia	57217	TTC7A	ORPHA:2300
HP:0002589	Gastrointestinal atresia	57217	TTC7A	ORPHA:436252
HP:0002589	Gastrointestinal atresia	5297	PI4KA	ORPHA:436252
HP:0002589	Gastrointestinal atresia	4659	PPP1R12A	OMIM:618820
HP:0002589	Gastrointestinal atresia	1174	AP1S1	OMIM:609313
HP:0002589	Gastrointestinal atresia	407975	MIR17HG	ORPHA:391646
HP:0002589	Gastrointestinal atresia	8604	SLC25A12	OMIM:612949
HP:0002589	Gastrointestinal atresia	54539	NDUFB11	OMIM:309801
HP:0002589	Gastrointestinal atresia	1349	COX7B	OMIM:309801
HP:0002589	Gastrointestinal atresia	3052	HCCS	OMIM:309801
HP:0002589	Gastrointestinal atresia	3655	ITGA6	ORPHA:79403
HP:0002589	Gastrointestinal atresia	25942	SIN3A	ORPHA:94065
HP:0002589	Gastrointestinal atresia	374879	ZNF699	OMIM:619488
HP:0002589	Gastrointestinal atresia	6651	SON	OMIM:617140
HP:0002589	Gastrointestinal atresia	79827	CLMP	OMIM:615237
HP:0002589	Gastrointestinal atresia	11005	SPINK5	OMIM:256500
HP:0002589	Gastrointestinal atresia	1131	CHRM3	ORPHA:2970
HP:0002589	Gastrointestinal atresia	4629	MYH11	OMIM:619351
HP:0002589	Gastrointestinal atresia	29925	GMPPB	OMIM:615351
HP:0002589	Gastrointestinal atresia	341640	FREM2	OMIM:617666
HP:0002589	Gastrointestinal atresia	5889	RAD51C	OMIM:613390
HP:0002589	Gastrointestinal atresia	26123	TCTN3	ORPHA:2753
HP:0002589	Gastrointestinal atresia	129563	DIS3L2	OMIM:267000
HP:0020166	Central retinal vein occlusion	51816	ADA2	ORPHA:820
HP:0020169	Abnormal drug response	1066	CES1	OMIM:618057
HP:0020169	Abnormal drug response	4210	MEFV	ORPHA:3243
HP:0020169	Abnormal drug response	5777	PTPN6	ORPHA:3243
HP:0002590	Paralytic ileus	3145	HMBS	OMIM:176000
HP:0002590	Paralytic ileus	91574	MTRFR	ORPHA:254930
HP:0002590	Paralytic ileus	91574	MTRFR	OMIM:613559
HP:0002590	Paralytic ileus	2184	FAH	OMIM:276700
HP:0002590	Paralytic ileus	10092	ARPC5	OMIM:620565
HP:0002591	Polyphagia	11198	SUPT16H	ORPHA:261229
HP:0002591	Polyphagia	57680	CHD8	ORPHA:261229
HP:0002591	Polyphagia	3064	HTT	ORPHA:399
HP:0002591	Polyphagia	6515	SLC2A3	ORPHA:399
HP:0002591	Polyphagia	7840	ALMS1	ORPHA:64
HP:0002591	Polyphagia	11253	MAN1B1	ORPHA:397941
HP:0002591	Polyphagia	23394	ADNP	ORPHA:404448
HP:0002591	Polyphagia	23394	ADNP	OMIM:615873
HP:0002591	Polyphagia	6492	SIM1	ORPHA:369873
HP:0002591	Polyphagia	6492	SIM1	ORPHA:171829
HP:0002591	Polyphagia	6492	SIM1	ORPHA:398079
HP:0002591	Polyphagia	26580	BSCL2	OMIM:269700
HP:0002591	Polyphagia	5663	PSEN1	OMIM:172700
HP:0002591	Polyphagia	5663	PSEN1	OMIM:600274
HP:0002591	Polyphagia	4137	MAPT	OMIM:172700
HP:0002591	Polyphagia	4137	MAPT	OMIM:600274
HP:0002591	Polyphagia	5122	PCSK1	ORPHA:71528
HP:0002591	Polyphagia	4160	MC4R	ORPHA:71529
HP:0002591	Polyphagia	4160	MC4R	OMIM:618406
HP:0002591	Polyphagia	23040	MYT1L	OMIM:616521
HP:0002591	Polyphagia	23040	MYT1L	ORPHA:647799
HP:0002591	Polyphagia	23314	SATB2	ORPHA:251028
HP:0002591	Polyphagia	5443	POMC	ORPHA:71526
HP:0002591	Polyphagia	5443	POMC	OMIM:609734
HP:0002591	Polyphagia	55777	MBD5	ORPHA:228402
HP:0002591	Polyphagia	55777	MBD5	OMIM:156200
HP:0002591	Polyphagia	5590	PRKCZ	ORPHA:1606
HP:0002591	Polyphagia	2563	GABRD	ORPHA:1606
HP:0002591	Polyphagia	23013	SPEN	ORPHA:1606
HP:0002591	Polyphagia	8510	MMP23B	ORPHA:1606
HP:0002591	Polyphagia	7798	LUZP1	ORPHA:1606
HP:0002591	Polyphagia	6497	SKI	ORPHA:1606
HP:0002591	Polyphagia	10630	PDPN	ORPHA:1606
HP:0002591	Polyphagia	3339	HSPG2	ORPHA:1606
HP:0002591	Polyphagia	10277	UBE4B	ORPHA:1606
HP:0002591	Polyphagia	8514	KCNAB2	ORPHA:1606
HP:0002591	Polyphagia	473	RERE	ORPHA:1606
HP:0002591	Polyphagia	63976	PRDM16	ORPHA:1606
HP:0002591	Polyphagia	54897	CASZ1	ORPHA:1606
HP:0002591	Polyphagia	84320	ACBD6	OMIM:620785
HP:0002591	Polyphagia	4221	MEN1	ORPHA:97279
HP:0002591	Polyphagia	7528	YY1	ORPHA:97279
HP:0002591	Polyphagia	9881	TRANK1	ORPHA:33543
HP:0002591	Polyphagia	100033413	SNORD116-1	OMIM:176270
HP:0002591	Polyphagia	8924	HERC2	OMIM:176270
HP:0002591	Polyphagia	23742	NPAP1	OMIM:176270
HP:0002591	Polyphagia	338433	SNORD115-1	OMIM:176270
HP:0002591	Polyphagia	54551	MAGEL2	OMIM:176270
HP:0002591	Polyphagia	54551	MAGEL2	ORPHA:98754
HP:0002591	Polyphagia	54551	MAGEL2	ORPHA:177904
HP:0002591	Polyphagia	54551	MAGEL2	ORPHA:177901
HP:0002591	Polyphagia	54551	MAGEL2	ORPHA:398069
HP:0002591	Polyphagia	54551	MAGEL2	ORPHA:177910
HP:0002591	Polyphagia	54551	MAGEL2	OMIM:615547
HP:0002591	Polyphagia	7681	MKRN3	OMIM:176270
HP:0002591	Polyphagia	145624	PWAR1	OMIM:176270
HP:0002591	Polyphagia	3653	IPW	OMIM:176270
HP:0002591	Polyphagia	791114	PWRN1	OMIM:176270
HP:0002591	Polyphagia	2896	GRN	OMIM:607485
HP:0002591	Polyphagia	25970	SH2B1	ORPHA:329249
HP:0002591	Polyphagia	23524	SRRM2	OMIM:620439
HP:0002591	Polyphagia	3952	LEP	ORPHA:66628
HP:0002591	Polyphagia	3952	LEP	OMIM:614962
HP:0002591	Polyphagia	6519	SLC3A1	ORPHA:163690
HP:0002591	Polyphagia	9581	PREPL	ORPHA:163690
HP:0002591	Polyphagia	6833	ABCC8	ORPHA:276575
HP:0002591	Polyphagia	6638	SNRPN	ORPHA:98754
HP:0002591	Polyphagia	6638	SNRPN	ORPHA:177904
HP:0002591	Polyphagia	6638	SNRPN	ORPHA:177901
HP:0002591	Polyphagia	6638	SNRPN	ORPHA:177910
HP:0002591	Polyphagia	6638	SNRPN	ORPHA:411515
HP:0002591	Polyphagia	4692	NDN	ORPHA:98754
HP:0002591	Polyphagia	4692	NDN	ORPHA:177904
HP:0002591	Polyphagia	4692	NDN	ORPHA:177901
HP:0002591	Polyphagia	4692	NDN	ORPHA:177910
HP:0002591	Polyphagia	4948	OCA2	ORPHA:98754
HP:0002591	Polyphagia	4948	OCA2	ORPHA:177904
HP:0002591	Polyphagia	4948	OCA2	ORPHA:177901
HP:0002591	Polyphagia	3767	KCNJ11	ORPHA:276580
HP:0002591	Polyphagia	8481	OFD1	OMIM:300804
HP:0002591	Polyphagia	2146	EZH2	OMIM:277590
HP:0002591	Polyphagia	3953	LEPR	OMIM:614963
HP:0002591	Polyphagia	3953	LEPR	ORPHA:179494
HP:0002591	Polyphagia	80173	IFT74	OMIM:617119
HP:0002591	Polyphagia	2778	GNAS	ORPHA:79443
HP:0002591	Polyphagia	2778	GNAS	ORPHA:79444
HP:0002591	Polyphagia	506	ATP5F1B	OMIM:620085
HP:0002591	Polyphagia	10555	AGPAT2	OMIM:608594
HP:0002591	Polyphagia	6927	HNF1A	ORPHA:324575
HP:0002591	Polyphagia	6927	HNF1A	OMIM:222100
HP:0002591	Polyphagia	26191	PTPN22	OMIM:222100
HP:0002591	Polyphagia	3710	ITPR3	OMIM:222100
HP:0002591	Polyphagia	3569	IL6	OMIM:222100
HP:0002591	Polyphagia	4330	MN1	OMIM:618774
HP:0002591	Polyphagia	7543	ZFX	OMIM:301118
HP:0002591	Polyphagia	83550	GPR101	OMIM:300942
HP:0002591	Polyphagia	29072	SETD2	OMIM:616831
HP:0002591	Polyphagia	109	ADCY3	OMIM:617885
HP:0002591	Polyphagia	4915	NTRK2	OMIM:613886
HP:0002591	Polyphagia	27241	BBS9	OMIM:615986
HP:0002591	Polyphagia	7351	UCP2	ORPHA:276556
HP:0002591	Polyphagia	7337	UBE3A	ORPHA:411515
HP:0002591	Polyphagia	57194	ATP10A	ORPHA:411515
HP:0002591	Polyphagia	6524	SLC5A2	OMIM:233100
HP:0002591	Polyphagia	64864	RFX7	OMIM:620330
HP:0002591	Polyphagia	1499	CTNNB1	ORPHA:54595
HP:0002591	Polyphagia	673	BRAF	ORPHA:54595
HP:0002592	Gastric ulcer	6774	STAT3	OMIM:147060
HP:0002592	Gastric ulcer	493856	CISD2	ORPHA:3463
HP:0002592	Gastric ulcer	7466	WFS1	ORPHA:3463
HP:0002592	Gastric ulcer	57492	ARID1B	OMIM:135900
HP:0002592	Gastric ulcer	2629	GBA1	ORPHA:2072
HP:0002592	Gastric ulcer	5321	PLA2G4A	OMIM:618372
HP:0002593	Intestinal lymphangiectasia	9780	PIEZO1	OMIM:616843
HP:0002593	Intestinal lymphangiectasia	79633	FAT4	OMIM:616006
HP:0002593	Intestinal lymphangiectasia	55072	RNF31	OMIM:620632
HP:0002593	Intestinal lymphangiectasia	1604	CD55	OMIM:226300
HP:0002593	Intestinal lymphangiectasia	147372	CCBE1	OMIM:235510
HP:0002594	Pancreatic hypoplasia	2627	GATA6	OMIM:600001
HP:0002594	Pancreatic hypoplasia	2627	GATA6	ORPHA:2255
HP:0002594	Pancreatic hypoplasia	3767	KCNJ11	ORPHA:552
HP:0002594	Pancreatic hypoplasia	3767	KCNJ11	ORPHA:99885
HP:0002594	Pancreatic hypoplasia	8462	KLF11	ORPHA:552
HP:0002594	Pancreatic hypoplasia	2645	GCK	ORPHA:552
HP:0002594	Pancreatic hypoplasia	2645	GCK	ORPHA:99885
HP:0002594	Pancreatic hypoplasia	26060	APPL1	ORPHA:552
HP:0002594	Pancreatic hypoplasia	640	BLK	ORPHA:552
HP:0002594	Pancreatic hypoplasia	1056	CEL	ORPHA:552
HP:0002594	Pancreatic hypoplasia	4760	NEUROD1	ORPHA:552
HP:0002594	Pancreatic hypoplasia	3651	PDX1	ORPHA:552
HP:0002594	Pancreatic hypoplasia	3651	PDX1	OMIM:260370
HP:0002594	Pancreatic hypoplasia	3651	PDX1	ORPHA:99885
HP:0002594	Pancreatic hypoplasia	6833	ABCC8	ORPHA:552
HP:0002594	Pancreatic hypoplasia	6833	ABCC8	ORPHA:99885
HP:0002594	Pancreatic hypoplasia	5078	PAX4	ORPHA:552
HP:0002594	Pancreatic hypoplasia	3172	HNF4A	ORPHA:552
HP:0002594	Pancreatic hypoplasia	6927	HNF1A	ORPHA:552
HP:0002594	Pancreatic hypoplasia	3630	INS	ORPHA:552
HP:0002594	Pancreatic hypoplasia	3630	INS	ORPHA:99885
HP:0002594	Pancreatic hypoplasia	55315	SLC29A3	OMIM:602782
HP:0002594	Pancreatic hypoplasia	6928	HNF1B	OMIM:137920
HP:0002594	Pancreatic hypoplasia	54914	FOCAD	OMIM:619991
HP:0002594	Pancreatic hypoplasia	222546	RFX6	OMIM:615710
HP:0002594	Pancreatic hypoplasia	169792	GLIS3	OMIM:610199
HP:0002594	Pancreatic hypoplasia	256297	PTF1A	OMIM:615935
HP:0002594	Pancreatic hypoplasia	256297	PTF1A	OMIM:609069
HP:0002594	Pancreatic hypoplasia	6774	STAT3	ORPHA:99885
HP:0002594	Pancreatic hypoplasia	134218	DNAJC21	ORPHA:811
HP:0002594	Pancreatic hypoplasia	79631	EFL1	ORPHA:811
HP:0002594	Pancreatic hypoplasia	51119	SBDS	ORPHA:811
HP:0002595	Ileus	91574	MTRFR	ORPHA:254930
HP:0002595	Ileus	91574	MTRFR	OMIM:613559
HP:0002595	Ileus	2184	FAH	OMIM:276700
HP:0002595	Ileus	10092	ARPC5	OMIM:620565
HP:0002595	Ileus	1080	CFTR	OMIM:219700
HP:0002595	Ileus	2212	FCGR2A	OMIM:219700
HP:0002595	Ileus	7040	TGFB1	OMIM:219700
HP:0002595	Ileus	6535	SLC6A8	OMIM:300352
HP:0002595	Ileus	6535	SLC6A8	ORPHA:52503
HP:0002595	Ileus	2130	EWSR1	ORPHA:83469
HP:0002595	Ileus	7490	WT1	ORPHA:83469
HP:0002595	Ileus	50943	FOXP3	ORPHA:37042
HP:0002595	Ileus	50943	FOXP3	OMIM:304790
HP:0002595	Ileus	6663	SOX10	ORPHA:163746
HP:0002595	Ileus	6663	SOX10	OMIM:609136
HP:0002595	Ileus	284119	CAVIN1	OMIM:613327
HP:0002595	Ileus	5498	PPOX	ORPHA:79473
HP:0002595	Ileus	3145	HMBS	ORPHA:79276
HP:0002595	Ileus	26153	KIF26A	OMIM:620156
HP:0002595	Ileus	6572	SLC18A3	OMIM:617239
HP:0002595	Ileus	2984	GUCY2C	OMIM:614665
HP:0002595	Ileus	6804	STX1A	ORPHA:586
HP:0002595	Ileus	2947	GSTM3	ORPHA:586
HP:0002595	Ileus	2729	GCLC	ORPHA:586
HP:0002595	Ileus	1084	CEACAM3	ORPHA:586
HP:0002595	Ileus	6556	SLC11A1	ORPHA:586
HP:0002595	Ileus	51164	DCTN4	ORPHA:586
HP:0002595	Ileus	3783	KCNN4	ORPHA:586
HP:0002595	Ileus	4282	MIF	ORPHA:586
HP:0002595	Ileus	1909	EDNRA	ORPHA:586
HP:0002595	Ileus	6550	SLC9A3	ORPHA:586
HP:0002595	Ileus	3162	HMOX1	ORPHA:586
HP:0002595	Ileus	115019	SLC26A9	ORPHA:586
HP:0002595	Ileus	3077	HFE	ORPHA:586
HP:0002595	Ileus	11254	SLC6A14	ORPHA:586
HP:0002595	Ileus	5265	SERPINA1	ORPHA:586
HP:0002595	Ileus	22802	CLCA4	ORPHA:586
HP:0002595	Ileus	4680	CEACAM6	ORPHA:586
HP:0004362	Abnormal enteric ganglion morphology	25970	SH2B1	ORPHA:261222
HP:0004362	Abnormal enteric ganglion morphology	6535	SLC6A8	OMIM:300352
HP:0004362	Abnormal enteric ganglion morphology	6535	SLC6A8	ORPHA:52503
HP:0004362	Abnormal enteric ganglion morphology	10262	SF3B4	OMIM:154400
HP:0004362	Abnormal enteric ganglion morphology	26128	KIFBP	OMIM:609460
HP:0004362	Abnormal enteric ganglion morphology	26128	KIFBP	ORPHA:66629
HP:0004362	Abnormal enteric ganglion morphology	23556	PIGN	ORPHA:2059
HP:0004362	Abnormal enteric ganglion morphology	8195	MKKS	OMIM:236700
HP:0004362	Abnormal enteric ganglion morphology	8195	MKKS	ORPHA:110
HP:0004362	Abnormal enteric ganglion morphology	8195	MKKS	ORPHA:2473
HP:0004362	Abnormal enteric ganglion morphology	57167	SALL4	OMIM:607323
HP:0004362	Abnormal enteric ganglion morphology	57167	SALL4	ORPHA:959
HP:0004362	Abnormal enteric ganglion morphology	64324	NSD1	ORPHA:821
HP:0004362	Abnormal enteric ganglion morphology	10297	APC2	ORPHA:821
HP:0004362	Abnormal enteric ganglion morphology	1908	EDN3	ORPHA:661
HP:0004362	Abnormal enteric ganglion morphology	1908	EDN3	ORPHA:388
HP:0004362	Abnormal enteric ganglion morphology	1908	EDN3	ORPHA:897
HP:0004362	Abnormal enteric ganglion morphology	1908	EDN3	OMIM:613265
HP:0004362	Abnormal enteric ganglion morphology	1908	EDN3	OMIM:613712
HP:0004362	Abnormal enteric ganglion morphology	2668	GDNF	ORPHA:661
HP:0004362	Abnormal enteric ganglion morphology	2668	GDNF	ORPHA:388
HP:0004362	Abnormal enteric ganglion morphology	2668	GDNF	OMIM:613711
HP:0004362	Abnormal enteric ganglion morphology	627	BDNF	ORPHA:661
HP:0004362	Abnormal enteric ganglion morphology	10660	LBX1	ORPHA:661
HP:0004362	Abnormal enteric ganglion morphology	283446	MYO1H	ORPHA:661
HP:0004362	Abnormal enteric ganglion morphology	8929	PHOX2B	ORPHA:661
HP:0004362	Abnormal enteric ganglion morphology	8929	PHOX2B	ORPHA:99803
HP:0004362	Abnormal enteric ganglion morphology	8929	PHOX2B	ORPHA:2151
HP:0004362	Abnormal enteric ganglion morphology	8929	PHOX2B	OMIM:209880
HP:0004362	Abnormal enteric ganglion morphology	8929	PHOX2B	OMIM:613013
HP:0004362	Abnormal enteric ganglion morphology	215	ABCD1	ORPHA:388
HP:0004362	Abnormal enteric ganglion morphology	6608	SMO	ORPHA:388
HP:0004362	Abnormal enteric ganglion morphology	1889	ECE1	ORPHA:388
HP:0004362	Abnormal enteric ganglion morphology	1889	ECE1	OMIM:613870
HP:0004362	Abnormal enteric ganglion morphology	6720	SREBF1	ORPHA:388
HP:0004362	Abnormal enteric ganglion morphology	223117	SEMA3D	ORPHA:388
HP:0004362	Abnormal enteric ganglion morphology	538	ATP7A	ORPHA:388
HP:0004362	Abnormal enteric ganglion morphology	1910	EDNRB	ORPHA:388
HP:0004362	Abnormal enteric ganglion morphology	1910	EDNRB	ORPHA:897
HP:0004362	Abnormal enteric ganglion morphology	1910	EDNRB	OMIM:600501
HP:0004362	Abnormal enteric ganglion morphology	1910	EDNRB	OMIM:277580
HP:0004362	Abnormal enteric ganglion morphology	1910	EDNRB	OMIM:600155
HP:0004362	Abnormal enteric ganglion morphology	1910	EDNRB	ORPHA:895
HP:0004362	Abnormal enteric ganglion morphology	10512	SEMA3C	ORPHA:388
HP:0004362	Abnormal enteric ganglion morphology	2064	ERBB2	ORPHA:388
HP:0004362	Abnormal enteric ganglion morphology	2065	ERBB3	ORPHA:388
HP:0004362	Abnormal enteric ganglion morphology	2065	ERBB3	OMIM:243180
HP:0004362	Abnormal enteric ganglion morphology	4902	NRTN	ORPHA:388
HP:0004362	Abnormal enteric ganglion morphology	23322	RPGRIP1L	ORPHA:220497
HP:0004362	Abnormal enteric ganglion morphology	4867	NPHP1	ORPHA:220497
HP:0004362	Abnormal enteric ganglion morphology	4867	NPHP1	ORPHA:110
HP:0004362	Abnormal enteric ganglion morphology	65062	TMEM237	ORPHA:220497
HP:0004362	Abnormal enteric ganglion morphology	65062	TMEM237	ORPHA:2318
HP:0004362	Abnormal enteric ganglion morphology	65062	TMEM237	ORPHA:475
HP:0004362	Abnormal enteric ganglion morphology	83479	DDX59	OMIM:174300
HP:0004362	Abnormal enteric ganglion morphology	83479	DDX59	ORPHA:2919
HP:0004362	Abnormal enteric ganglion morphology	72	ACTG2	ORPHA:2604
HP:0004362	Abnormal enteric ganglion morphology	72	ACTG2	OMIM:155310
HP:0004362	Abnormal enteric ganglion morphology	54806	AHI1	ORPHA:220493
HP:0004362	Abnormal enteric ganglion morphology	54806	AHI1	ORPHA:475
HP:0004362	Abnormal enteric ganglion morphology	56623	INPP5E	ORPHA:220493
HP:0004362	Abnormal enteric ganglion morphology	56623	INPP5E	ORPHA:475
HP:0004362	Abnormal enteric ganglion morphology	153241	CEP120	ORPHA:220493
HP:0004362	Abnormal enteric ganglion morphology	153241	CEP120	ORPHA:475
HP:0004362	Abnormal enteric ganglion morphology	54903	MKS1	ORPHA:220493
HP:0004362	Abnormal enteric ganglion morphology	54903	MKS1	ORPHA:475
HP:0004362	Abnormal enteric ganglion morphology	54903	MKS1	ORPHA:110
HP:0004362	Abnormal enteric ganglion morphology	95681	CEP41	ORPHA:220493
HP:0004362	Abnormal enteric ganglion morphology	95681	CEP41	ORPHA:475
HP:0004362	Abnormal enteric ganglion morphology	1717	DHCR7	ORPHA:818
HP:0004362	Abnormal enteric ganglion morphology	1717	DHCR7	OMIM:270400
HP:0004362	Abnormal enteric ganglion morphology	429	ASCL1	ORPHA:99803
HP:0004362	Abnormal enteric ganglion morphology	4286	MITF	ORPHA:897
HP:0004362	Abnormal enteric ganglion morphology	4286	MITF	ORPHA:895
HP:0004362	Abnormal enteric ganglion morphology	6663	SOX10	ORPHA:897
HP:0004362	Abnormal enteric ganglion morphology	6663	SOX10	ORPHA:163746
HP:0004362	Abnormal enteric ganglion morphology	6663	SOX10	OMIM:613266
HP:0004362	Abnormal enteric ganglion morphology	6663	SOX10	OMIM:609136
HP:0004362	Abnormal enteric ganglion morphology	6663	SOX10	ORPHA:895
HP:0004362	Abnormal enteric ganglion morphology	55650	PIGV	OMIM:239300
HP:0004362	Abnormal enteric ganglion morphology	55650	PIGV	ORPHA:247262
HP:0004362	Abnormal enteric ganglion morphology	170302	ARX	ORPHA:452
HP:0004362	Abnormal enteric ganglion morphology	6023	RMRP	ORPHA:175
HP:0004362	Abnormal enteric ganglion morphology	6023	RMRP	OMIM:250250
HP:0004362	Abnormal enteric ganglion morphology	84992	PIGY	ORPHA:247262
HP:0004362	Abnormal enteric ganglion morphology	84720	PIGO	ORPHA:247262
HP:0004362	Abnormal enteric ganglion morphology	84720	PIGO	OMIM:614749
HP:0004362	Abnormal enteric ganglion morphology	93210	PGAP3	ORPHA:247262
HP:0004362	Abnormal enteric ganglion morphology	284098	PIGW	ORPHA:247262
HP:0004362	Abnormal enteric ganglion morphology	27315	PGAP2	ORPHA:247262
HP:0004362	Abnormal enteric ganglion morphology	27315	PGAP2	OMIM:614207
HP:0004362	Abnormal enteric ganglion morphology	9487	PIGL	ORPHA:247262
HP:0004362	Abnormal enteric ganglion morphology	51360	MBTPS2	ORPHA:2273
HP:0004362	Abnormal enteric ganglion morphology	51360	MBTPS2	OMIM:308205
HP:0004362	Abnormal enteric ganglion morphology	51360	MBTPS2	ORPHA:85284
HP:0004362	Abnormal enteric ganglion morphology	84100	ARL6	OMIM:209900
HP:0004362	Abnormal enteric ganglion morphology	84100	ARL6	ORPHA:110
HP:0004362	Abnormal enteric ganglion morphology	79140	CCDC28B	OMIM:209900
HP:0004362	Abnormal enteric ganglion morphology	582	BBS1	OMIM:209900
HP:0004362	Abnormal enteric ganglion morphology	582	BBS1	ORPHA:110
HP:0004362	Abnormal enteric ganglion morphology	672	BRCA1	ORPHA:84
HP:0004362	Abnormal enteric ganglion morphology	10459	MAD2L2	ORPHA:84
HP:0004362	Abnormal enteric ganglion morphology	7516	XRCC2	ORPHA:84
HP:0004362	Abnormal enteric ganglion morphology	29089	UBE2T	ORPHA:84
HP:0004362	Abnormal enteric ganglion morphology	675	BRCA2	ORPHA:84
HP:0004362	Abnormal enteric ganglion morphology	55120	FANCL	ORPHA:84
HP:0004362	Abnormal enteric ganglion morphology	2177	FANCD2	ORPHA:84
HP:0004362	Abnormal enteric ganglion morphology	2175	FANCA	ORPHA:84
HP:0004362	Abnormal enteric ganglion morphology	2187	FANCB	ORPHA:84
HP:0004362	Abnormal enteric ganglion morphology	2176	FANCC	ORPHA:84
HP:0004362	Abnormal enteric ganglion morphology	2178	FANCE	ORPHA:84
HP:0004362	Abnormal enteric ganglion morphology	2188	FANCF	ORPHA:84
HP:0004362	Abnormal enteric ganglion morphology	2189	FANCG	ORPHA:84
HP:0004362	Abnormal enteric ganglion morphology	5888	RAD51	ORPHA:84
HP:0004362	Abnormal enteric ganglion morphology	5889	RAD51C	ORPHA:84
HP:0004362	Abnormal enteric ganglion morphology	55159	RFWD3	ORPHA:84
HP:0004362	Abnormal enteric ganglion morphology	83990	BRIP1	ORPHA:84
HP:0004362	Abnormal enteric ganglion morphology	57697	FANCM	ORPHA:84
HP:0004362	Abnormal enteric ganglion morphology	79728	PALB2	ORPHA:84
HP:0004362	Abnormal enteric ganglion morphology	84464	SLX4	ORPHA:84
HP:0004362	Abnormal enteric ganglion morphology	2072	ERCC4	ORPHA:84
HP:0004362	Abnormal enteric ganglion morphology	55215	FANCI	ORPHA:84
HP:0004362	Abnormal enteric ganglion morphology	546	ATRX	ORPHA:847
HP:0004362	Abnormal enteric ganglion morphology	1312	COMT	ORPHA:567
HP:0004362	Abnormal enteric ganglion morphology	221037	JMJD1C	ORPHA:567
HP:0004362	Abnormal enteric ganglion morphology	2812	GP1BB	ORPHA:567
HP:0004362	Abnormal enteric ganglion morphology	6239	RREB1	ORPHA:567
HP:0004362	Abnormal enteric ganglion morphology	6899	TBX1	ORPHA:567
HP:0004362	Abnormal enteric ganglion morphology	7290	HIRA	ORPHA:567
HP:0004362	Abnormal enteric ganglion morphology	9632	SEC24C	ORPHA:567
HP:0004362	Abnormal enteric ganglion morphology	7353	UFD1	ORPHA:567
HP:0004362	Abnormal enteric ganglion morphology	421	ARVCF	ORPHA:567
HP:0004362	Abnormal enteric ganglion morphology	79583	TMEM231	ORPHA:2318
HP:0004362	Abnormal enteric ganglion morphology	51524	TMEM138	ORPHA:2318
HP:0004362	Abnormal enteric ganglion morphology	23090	ZNF423	ORPHA:2318
HP:0004362	Abnormal enteric ganglion morphology	80184	CEP290	ORPHA:2318
HP:0004362	Abnormal enteric ganglion morphology	80184	CEP290	ORPHA:110
HP:0004362	Abnormal enteric ganglion morphology	51259	TMEM216	ORPHA:2318
HP:0004362	Abnormal enteric ganglion morphology	57545	CC2D2A	ORPHA:2318
HP:0004362	Abnormal enteric ganglion morphology	5077	PAX3	OMIM:148820
HP:0004362	Abnormal enteric ganglion morphology	5077	PAX3	ORPHA:894
HP:0004362	Abnormal enteric ganglion morphology	26040	SETBP1	ORPHA:798
HP:0004362	Abnormal enteric ganglion morphology	9851	KIAA0753	ORPHA:475
HP:0004362	Abnormal enteric ganglion morphology	5147	PDE6D	ORPHA:475
HP:0004362	Abnormal enteric ganglion morphology	79600	TCTN1	ORPHA:475
HP:0004362	Abnormal enteric ganglion morphology	79848	CSPP1	ORPHA:475
HP:0004362	Abnormal enteric ganglion morphology	8481	OFD1	ORPHA:475
HP:0004362	Abnormal enteric ganglion morphology	51684	SUFU	ORPHA:475
HP:0004362	Abnormal enteric ganglion morphology	65250	CPLANE1	ORPHA:475
HP:0004362	Abnormal enteric ganglion morphology	91147	TMEM67	ORPHA:475
HP:0004362	Abnormal enteric ganglion morphology	200894	ARL13B	ORPHA:475
HP:0004362	Abnormal enteric ganglion morphology	9731	CEP104	ORPHA:475
HP:0004362	Abnormal enteric ganglion morphology	219844	HYLS1	ORPHA:475
HP:0004362	Abnormal enteric ganglion morphology	23247	KATNIP	ORPHA:475
HP:0004362	Abnormal enteric ganglion morphology	219854	TMEM218	ORPHA:475
HP:0004362	Abnormal enteric ganglion morphology	9786	KIAA0586	ORPHA:475
HP:0004362	Abnormal enteric ganglion morphology	26123	TCTN3	ORPHA:475
HP:0004362	Abnormal enteric ganglion morphology	79867	TCTN2	ORPHA:475
HP:0004362	Abnormal enteric ganglion morphology	80776	B9D2	ORPHA:475
HP:0004362	Abnormal enteric ganglion morphology	10464	PIBF1	ORPHA:475
HP:0004362	Abnormal enteric ganglion morphology	80210	ARMC9	ORPHA:475
HP:0004362	Abnormal enteric ganglion morphology	23116	TOGARAM1	ORPHA:475
HP:0004362	Abnormal enteric ganglion morphology	25776	CBY1	ORPHA:475
HP:0004362	Abnormal enteric ganglion morphology	27077	B9D1	ORPHA:475
HP:0004362	Abnormal enteric ganglion morphology	403	ARL3	ORPHA:475
HP:0004362	Abnormal enteric ganglion morphology	80173	IFT74	ORPHA:475
HP:0004362	Abnormal enteric ganglion morphology	80173	IFT74	ORPHA:110
HP:0004362	Abnormal enteric ganglion morphology	92482	BBIP1	ORPHA:110
HP:0004362	Abnormal enteric ganglion morphology	11020	IFT27	ORPHA:110
HP:0004362	Abnormal enteric ganglion morphology	49855	SCAPER	ORPHA:110
HP:0004362	Abnormal enteric ganglion morphology	51057	WDPCP	ORPHA:110
HP:0004362	Abnormal enteric ganglion morphology	132320	SCLT1	ORPHA:110
HP:0004362	Abnormal enteric ganglion morphology	27241	BBS9	ORPHA:110
HP:0004362	Abnormal enteric ganglion morphology	84984	CEP19	ORPHA:110
HP:0004362	Abnormal enteric ganglion morphology	22954	TRIM32	ORPHA:110
HP:0004362	Abnormal enteric ganglion morphology	79738	BBS10	ORPHA:110
HP:0004362	Abnormal enteric ganglion morphology	123016	TTC8	ORPHA:110
HP:0004362	Abnormal enteric ganglion morphology	26160	IFT172	ORPHA:110
HP:0004362	Abnormal enteric ganglion morphology	583	BBS2	ORPHA:110
HP:0004362	Abnormal enteric ganglion morphology	585	BBS4	ORPHA:110
HP:0004362	Abnormal enteric ganglion morphology	54585	LZTFL1	ORPHA:110
HP:0004362	Abnormal enteric ganglion morphology	55212	BBS7	ORPHA:110
HP:0004362	Abnormal enteric ganglion morphology	166379	BBS12	ORPHA:110
HP:0004362	Abnormal enteric ganglion morphology	10806	SDCCAG8	ORPHA:110
HP:0004362	Abnormal enteric ganglion morphology	157657	CFAP418	ORPHA:110
HP:0004362	Abnormal enteric ganglion morphology	129880	BBS5	ORPHA:110
HP:0004362	Abnormal enteric ganglion morphology	54880	BCOR	OMIM:309800
HP:0004362	Abnormal enteric ganglion morphology	8260	NAA10	OMIM:309800
HP:0004362	Abnormal enteric ganglion morphology	6925	TCF4	ORPHA:2896
HP:0004362	Abnormal enteric ganglion morphology	1654	DDX3X	ORPHA:3338
HP:0004362	Abnormal enteric ganglion morphology	3845	KRAS	ORPHA:3339
HP:0004362	Abnormal enteric ganglion morphology	6591	SNAI2	ORPHA:2884
HP:0004362	Abnormal enteric ganglion morphology	6591	SNAI2	ORPHA:895
HP:0004362	Abnormal enteric ganglion morphology	3815	KIT	ORPHA:2884
HP:0004362	Abnormal enteric ganglion morphology	3815	KIT	OMIM:172800
HP:0004362	Abnormal enteric ganglion morphology	7846	TUBA1A	ORPHA:171680
HP:0004362	Abnormal enteric ganglion morphology	7299	TYR	ORPHA:895
HP:0004362	Abnormal enteric ganglion morphology	4254	KITLG	ORPHA:895
HP:0004362	Abnormal enteric ganglion morphology	2294	FOXF1	ORPHA:210122
HP:0004362	Abnormal enteric ganglion morphology	3897	L1CAM	OMIM:304100
HP:0004362	Abnormal enteric ganglion morphology	3897	L1CAM	ORPHA:1497
HP:0004362	Abnormal enteric ganglion morphology	5979	RET	OMIM:142623
HP:0004362	Abnormal enteric ganglion morphology	9839	ZEB2	OMIM:235730
HP:0002597	Abnormality of the vasculature	9897	WASHC5	ORPHA:7
HP:0002597	Abnormality of the vasculature	28952	CCDC22	ORPHA:7
HP:0002597	Abnormality of the vasculature	57020	VPS35L	ORPHA:7
HP:0002597	Abnormality of the vasculature	56896	DPYSL5	ORPHA:7
HP:0002597	Abnormality of the vasculature	5500	PPP1CB	OMIM:617506
HP:0002597	Abnormality of the vasculature	79644	SRD5A3	OMIM:612713
HP:0002597	Abnormality of the vasculature	26040	SETBP1	OMIM:269150
HP:0002597	Abnormality of the vasculature	26040	SETBP1	ORPHA:798
HP:0002597	Abnormality of the vasculature	246329	STAC3	ORPHA:168572
HP:0002597	Abnormality of the vasculature	55129	ANO10	ORPHA:284289
HP:0002597	Abnormality of the vasculature	55129	ANO10	OMIM:613728
HP:0002597	Abnormality of the vasculature	2263	FGFR2	OMIM:149730
HP:0002597	Abnormality of the vasculature	2263	FGFR2	OMIM:123500
HP:0002597	Abnormality of the vasculature	2263	FGFR2	ORPHA:207
HP:0002597	Abnormality of the vasculature	987	LRBA	OMIM:614700
HP:0002597	Abnormality of the vasculature	1736	DKC1	OMIM:305000
HP:0002597	Abnormality of the vasculature	2778	GNAS	ORPHA:94089
HP:0002597	Abnormality of the vasculature	2778	GNAS	ORPHA:79443
HP:0002597	Abnormality of the vasculature	2778	GNAS	ORPHA:79444
HP:0002597	Abnormality of the vasculature	8675	STX16	ORPHA:94089
HP:0002597	Abnormality of the vasculature	1161	ERCC8	ORPHA:90321
HP:0002597	Abnormality of the vasculature	1161	ERCC8	ORPHA:90322
HP:0002597	Abnormality of the vasculature	2067	ERCC1	ORPHA:90322
HP:0002597	Abnormality of the vasculature	5896	RAG1	OMIM:601457
HP:0002597	Abnormality of the vasculature	5897	RAG2	OMIM:601457
HP:0002597	Abnormality of the vasculature	162	AP1B1	OMIM:242150
HP:0002597	Abnormality of the vasculature	8626	TP63	OMIM:103285
HP:0002597	Abnormality of the vasculature	8626	TP63	OMIM:106260
HP:0002597	Abnormality of the vasculature	7086	TKT	ORPHA:488618
HP:0002597	Abnormality of the vasculature	65082	VPS33A	ORPHA:505248
HP:0002597	Abnormality of the vasculature	115650	TNFRSF13C	OMIM:240500
HP:0002597	Abnormality of the vasculature	29851	ICOS	OMIM:240500
HP:0002597	Abnormality of the vasculature	29851	ICOS	OMIM:607594
HP:0002597	Abnormality of the vasculature	930	CD19	OMIM:240500
HP:0002597	Abnormality of the vasculature	930	CD19	OMIM:613493
HP:0002597	Abnormality of the vasculature	23495	TNFRSF13B	OMIM:240500
HP:0002597	Abnormality of the vasculature	1380	CR2	OMIM:240500
HP:0002597	Abnormality of the vasculature	7037	TFRC	OMIM:616740
HP:0002597	Abnormality of the vasculature	686	BTD	OMIM:253260
HP:0002597	Abnormality of the vasculature	686	BTD	ORPHA:79241
HP:0002597	Abnormality of the vasculature	2077	ERF	ORPHA:207
HP:0002597	Abnormality of the vasculature	10804	GJB6	OMIM:129500
HP:0002597	Abnormality of the vasculature	10804	GJB6	ORPHA:477
HP:0002597	Abnormality of the vasculature	2706	GJB2	ORPHA:477
HP:0002597	Abnormality of the vasculature	3507	IGHM	OMIM:601495
HP:0002597	Abnormality of the vasculature	3507	IGHM	ORPHA:33110
HP:0002597	Abnormality of the vasculature	8676	STX11	OMIM:603552
HP:0002597	Abnormality of the vasculature	2261	FGFR3	OMIM:620192
HP:0002597	Abnormality of the vasculature	5075	PAX1	OMIM:615560
HP:0002597	Abnormality of the vasculature	974	CD79B	OMIM:612692
HP:0002597	Abnormality of the vasculature	974	CD79B	ORPHA:33110
HP:0002597	Abnormality of the vasculature	7390	UROS	OMIM:263700
HP:0002597	Abnormality of the vasculature	5692	PSMB4	OMIM:617591
HP:0002597	Abnormality of the vasculature	7994	KAT6A	OMIM:616268
HP:0002597	Abnormality of the vasculature	404672	GTF2H5	ORPHA:33364
HP:0002597	Abnormality of the vasculature	833	CARS1	ORPHA:33364
HP:0002597	Abnormality of the vasculature	136647	MPLKIP	ORPHA:33364
HP:0002597	Abnormality of the vasculature	6897	TARS1	ORPHA:33364
HP:0002597	Abnormality of the vasculature	16	AARS1	ORPHA:33364
HP:0002597	Abnormality of the vasculature	2961	GTF2E2	ORPHA:33364
HP:0002597	Abnormality of the vasculature	54809	SAMD9	OMIM:610455
HP:0002597	Abnormality of the vasculature	3321	IGSF3	OMIM:149700
HP:0002597	Abnormality of the vasculature	6929	TCF3	ORPHA:33110
HP:0002597	Abnormality of the vasculature	7922	SLC39A7	ORPHA:33110
HP:0002597	Abnormality of the vasculature	973	CD79A	ORPHA:33110
HP:0002597	Abnormality of the vasculature	6688	SPI1	ORPHA:33110
HP:0002597	Abnormality of the vasculature	3543	IGLL1	ORPHA:33110
HP:0002597	Abnormality of the vasculature	29760	BLNK	ORPHA:33110
HP:0002597	Abnormality of the vasculature	5295	PIK3R1	ORPHA:33110
HP:0002597	Abnormality of the vasculature	56262	LRRC8A	ORPHA:33110
HP:0002597	Abnormality of the vasculature	3978	LIG1	OMIM:619774
HP:0002597	Abnormality of the vasculature	23328	SASH1	OMIM:618373
HP:0002597	Abnormality of the vasculature	4683	NBN	OMIM:251260
HP:0002597	Abnormality of the vasculature	5648	MASP1	OMIM:257920
HP:0002597	Abnormality of the vasculature	472	ATM	OMIM:208900
HP:0002597	Abnormality of the vasculature	23064	SETX	OMIM:606002
HP:0002597	Abnormality of the vasculature	5190	PEX6	ORPHA:95433
HP:0002597	Abnormality of the vasculature	344	APOC2	OMIM:207750
HP:0002597	Abnormality of the vasculature	2538	G6PC1	OMIM:232200
HP:0002597	Abnormality of the vasculature	338328	GPIHBP1	OMIM:615947
HP:0002597	Abnormality of the vasculature	4023	LPL	OMIM:238600
HP:0002597	Abnormality of the vasculature	2542	SLC37A4	OMIM:232220
HP:0002597	Abnormality of the vasculature	348	APOE	ORPHA:412
HP:0002597	Abnormality of the vasculature	57724	EPG5	OMIM:242840
HP:0002597	Abnormality of the vasculature	6899	TBX1	OMIM:188400
HP:0002597	Abnormality of the vasculature	80144	FRAS1	OMIM:219000
HP:0002597	Abnormality of the vasculature	57217	TTC7A	OMIM:243150
HP:0002597	Abnormality of the vasculature	57217	TTC7A	ORPHA:436252
HP:0002597	Abnormality of the vasculature	55388	MCM10	OMIM:619313
HP:0002597	Abnormality of the vasculature	6097	RORC	OMIM:616622
HP:0002597	Abnormality of the vasculature	5297	PI4KA	ORPHA:436252
HP:0002597	Abnormality of the vasculature	5830	PEX5	OMIM:214110
HP:0002597	Abnormality of the vasculature	84172	POLR1B	ORPHA:861
HP:0002597	Abnormality of the vasculature	9533	POLR1C	ORPHA:861
HP:0002597	Abnormality of the vasculature	51082	POLR1D	ORPHA:861
HP:0002597	Abnormality of the vasculature	6949	TCOF1	ORPHA:861
HP:0002597	Abnormality of the vasculature	91754	NEK9	OMIM:617022
HP:0002597	Abnormality of the vasculature	56160	NSMCE3	OMIM:617241
HP:0002597	Abnormality of the vasculature	9652	SKIC3	ORPHA:84064
HP:0002597	Abnormality of the vasculature	6499	SKIC2	ORPHA:84064
HP:0002597	Abnormality of the vasculature	341640	FREM2	OMIM:617666
HP:0002597	Abnormality of the vasculature	23476	BRD4	ORPHA:199
HP:0002597	Abnormality of the vasculature	9126	SMC3	ORPHA:199
HP:0002597	Abnormality of the vasculature	9126	SMC3	OMIM:610759
HP:0002597	Abnormality of the vasculature	8243	SMC1A	ORPHA:199
HP:0002597	Abnormality of the vasculature	8243	SMC1A	OMIM:300590
HP:0002597	Abnormality of the vasculature	6878	TAF6	ORPHA:199
HP:0002597	Abnormality of the vasculature	25836	NIPBL	ORPHA:199
HP:0002597	Abnormality of the vasculature	25836	NIPBL	OMIM:122470
HP:0002597	Abnormality of the vasculature	55869	HDAC8	ORPHA:199
HP:0002597	Abnormality of the vasculature	55869	HDAC8	OMIM:300882
HP:0002597	Abnormality of the vasculature	5885	RAD21	ORPHA:199
HP:0002597	Abnormality of the vasculature	5885	RAD21	OMIM:614701
HP:0002597	Abnormality of the vasculature	3981	LIG4	ORPHA:235
HP:0002597	Abnormality of the vasculature	54888	NSUN2	ORPHA:235
HP:0002597	Abnormality of the vasculature	9791	PTDSS1	OMIM:151050
HP:0002597	Abnormality of the vasculature	2982	GUCY1A1	OMIM:615750
HP:0002597	Abnormality of the vasculature	2982	GUCY1A1	ORPHA:401945
HP:0002597	Abnormality of the vasculature	7737	RNF113A	OMIM:300953
HP:0002597	Abnormality of the vasculature	189	AGXT	OMIM:259900
HP:0002597	Abnormality of the vasculature	2355	FOSL2	OMIM:620789
HP:0002597	Abnormality of the vasculature	8364	H4C3	OMIM:619758
HP:0002597	Abnormality of the vasculature	4629	MYH11	ORPHA:229
HP:0002597	Abnormality of the vasculature	4629	MYH11	ORPHA:91387
HP:0002597	Abnormality of the vasculature	10274	STAG1	ORPHA:502434
HP:0002597	Abnormality of the vasculature	4774	NFIA	OMIM:613735
HP:0002597	Abnormality of the vasculature	4774	NFIA	ORPHA:401986
HP:0002597	Abnormality of the vasculature	10060	ABCC9	OMIM:619719
HP:0002597	Abnormality of the vasculature	55027	HEATR3	OMIM:620072
HP:0002597	Abnormality of the vasculature	4784	NFIX	OMIM:614753
HP:0002597	Abnormality of the vasculature	1717	DHCR7	ORPHA:818
HP:0002597	Abnormality of the vasculature	2767	GNA11	ORPHA:1556
HP:0002597	Abnormality of the vasculature	151188	ARL6IP6	ORPHA:1556
HP:0002597	Abnormality of the vasculature	79068	FTO	OMIM:612938
HP:0002597	Abnormality of the vasculature	6197	RPS6KA3	OMIM:303600
HP:0002597	Abnormality of the vasculature	5422	POLA1	OMIM:301220
HP:0002597	Abnormality of the vasculature	57492	ARID1B	OMIM:135900
HP:0002597	Abnormality of the vasculature	1663	DDX11	OMIM:613398
HP:0002597	Abnormality of the vasculature	340061	STING1	OMIM:615934
HP:0002597	Abnormality of the vasculature	10000	AKT3	OMIM:615937
HP:0002597	Abnormality of the vasculature	875	CBS	OMIM:236200
HP:0002597	Abnormality of the vasculature	51574	LARP7	ORPHA:319671
HP:0002597	Abnormality of the vasculature	25	ABL1	OMIM:617602
HP:0002597	Abnormality of the vasculature	10535	RNASEH2A	ORPHA:51
HP:0002597	Abnormality of the vasculature	84153	RNASEH2C	ORPHA:51
HP:0002597	Abnormality of the vasculature	25939	SAMHD1	ORPHA:51
HP:0002597	Abnormality of the vasculature	79621	RNASEH2B	ORPHA:51
HP:0002597	Abnormality of the vasculature	103	ADAR	ORPHA:51
HP:0002597	Abnormality of the vasculature	134353	LSM11	ORPHA:51
HP:0002597	Abnormality of the vasculature	64135	IFIH1	ORPHA:51
HP:0002597	Abnormality of the vasculature	7046	TGFBR1	ORPHA:91387
HP:0002597	Abnormality of the vasculature	7048	TGFBR2	ORPHA:91387
HP:0002597	Abnormality of the vasculature	4015	LOX	ORPHA:91387
HP:0002597	Abnormality of the vasculature	4087	SMAD2	ORPHA:91387
HP:0002597	Abnormality of the vasculature	7043	TGFB3	ORPHA:91387
HP:0002597	Abnormality of the vasculature	4088	SMAD3	ORPHA:91387
HP:0002597	Abnormality of the vasculature	7042	TGFB2	ORPHA:91387
HP:0002597	Abnormality of the vasculature	2200	FBN1	ORPHA:91387
HP:0002597	Abnormality of the vasculature	59	ACTA2	ORPHA:91387
HP:0002597	Abnormality of the vasculature	5592	PRKG1	ORPHA:91387
HP:0002597	Abnormality of the vasculature	2301	FOXE3	ORPHA:91387
HP:0002597	Abnormality of the vasculature	4144	MAT2A	ORPHA:91387
HP:0002597	Abnormality of the vasculature	23493	HEY2	ORPHA:91387
HP:0002597	Abnormality of the vasculature	8076	MFAP5	ORPHA:91387
HP:0002597	Abnormality of the vasculature	4638	MYLK	ORPHA:91387
HP:0002597	Abnormality of the vasculature	79875	THSD4	ORPHA:91387
HP:0002597	Abnormality of the vasculature	9898	UBAP2L	OMIM:620494
HP:0002597	Abnormality of the vasculature	3937	LCP2	OMIM:619374
HP:0002597	Abnormality of the vasculature	64858	DCLRE1B	OMIM:620133
HP:0002597	Abnormality of the vasculature	91039	DPP9	OMIM:620331
HP:0002597	Abnormality of the vasculature	2811	GP1BA	OMIM:153670
HP:0002597	Abnormality of the vasculature	2811	GP1BA	ORPHA:274
HP:0002597	Abnormality of the vasculature	2815	GP9	ORPHA:274
HP:0002597	Abnormality of the vasculature	2266	FGG	OMIM:202400
HP:0002597	Abnormality of the vasculature	2243	FGA	OMIM:202400
HP:0002597	Abnormality of the vasculature	2244	FGB	OMIM:202400
HP:0002597	Abnormality of the vasculature	5351	PLOD1	OMIM:225400
HP:0002597	Abnormality of the vasculature	5351	PLOD1	ORPHA:1900
HP:0002597	Abnormality of the vasculature	7148	TNXB	ORPHA:230839
HP:0002597	Abnormality of the vasculature	7148	TNXB	OMIM:606408
HP:0002597	Abnormality of the vasculature	538	ATP7A	OMIM:304150
HP:0002597	Abnormality of the vasculature	538	ATP7A	ORPHA:198
HP:0002597	Abnormality of the vasculature	1186	CLCN7	ORPHA:667
HP:0002597	Abnormality of the vasculature	29887	SNX10	ORPHA:667
HP:0002597	Abnormality of the vasculature	8600	TNFSF11	ORPHA:667
HP:0002597	Abnormality of the vasculature	5551	PRF1	ORPHA:540
HP:0002597	Abnormality of the vasculature	201294	UNC13D	ORPHA:540
HP:0002597	Abnormality of the vasculature	6813	STXBP2	ORPHA:540
HP:0002597	Abnormality of the vasculature	2158	F9	OMIM:306900
HP:0002597	Abnormality of the vasculature	54453	RIN2	ORPHA:217335
HP:0002597	Abnormality of the vasculature	54453	RIN2	OMIM:613075
HP:0002597	Abnormality of the vasculature	1278	COL1A2	ORPHA:230851
HP:0002597	Abnormality of the vasculature	1278	COL1A2	OMIM:617821
HP:0002597	Abnormality of the vasculature	1278	COL1A2	OMIM:225320
HP:0002597	Abnormality of the vasculature	1278	COL1A2	OMIM:619120
HP:0002597	Abnormality of the vasculature	2623	GATA1	OMIM:300367
HP:0002597	Abnormality of the vasculature	2623	GATA1	OMIM:314050
HP:0002597	Abnormality of the vasculature	2175	FANCA	OMIM:227650
HP:0002597	Abnormality of the vasculature	2120	ETV6	OMIM:616216
HP:0002597	Abnormality of the vasculature	50940	PDE11A	OMIM:610475
HP:0002597	Abnormality of the vasculature	50940	PDE11A	ORPHA:1359
HP:0002597	Abnormality of the vasculature	55033	FKBP14	OMIM:614557
HP:0002597	Abnormality of the vasculature	55033	FKBP14	ORPHA:300179
HP:0002597	Abnormality of the vasculature	10235	RASGRP2	OMIM:615888
HP:0002597	Abnormality of the vasculature	1130	LYST	OMIM:214500
HP:0002597	Abnormality of the vasculature	1130	LYST	ORPHA:167
HP:0002597	Abnormality of the vasculature	1130	LYST	ORPHA:352723
HP:0002597	Abnormality of the vasculature	5573	PRKAR1A	ORPHA:1359
HP:0002597	Abnormality of the vasculature	5573	PRKAR1A	OMIM:610489
HP:0002597	Abnormality of the vasculature	5573	PRKAR1A	ORPHA:520
HP:0002597	Abnormality of the vasculature	23218	NBEAL2	OMIM:139090
HP:0002597	Abnormality of the vasculature	23218	NBEAL2	ORPHA:721
HP:0002597	Abnormality of the vasculature	63915	BLOC1S5	OMIM:619172
HP:0002597	Abnormality of the vasculature	84196	USP48	ORPHA:96253
HP:0002597	Abnormality of the vasculature	9101	USP8	ORPHA:96253
HP:0002597	Abnormality of the vasculature	9101	USP8	OMIM:219090
HP:0002597	Abnormality of the vasculature	64072	CDH23	ORPHA:96253
HP:0002597	Abnormality of the vasculature	2908	NR3C1	ORPHA:96253
HP:0002597	Abnormality of the vasculature	546	ATRX	ORPHA:96253
HP:0002597	Abnormality of the vasculature	546	ATRX	ORPHA:231401
HP:0002597	Abnormality of the vasculature	3039	HBA1	ORPHA:98791
HP:0002597	Abnormality of the vasculature	3040	HBA2	ORPHA:98791
HP:0002597	Abnormality of the vasculature	165	AEBP1	OMIM:618000
HP:0002597	Abnormality of the vasculature	165	AEBP1	ORPHA:536532
HP:0002597	Abnormality of the vasculature	51206	GP6	OMIM:614201
HP:0002597	Abnormality of the vasculature	5831	PYCR1	OMIM:612940
HP:0002597	Abnormality of the vasculature	3674	ITGA2B	ORPHA:849
HP:0002597	Abnormality of the vasculature	3674	ITGA2B	OMIM:273800
HP:0002597	Abnormality of the vasculature	3690	ITGB3	ORPHA:849
HP:0002597	Abnormality of the vasculature	3690	ITGB3	OMIM:619267
HP:0002597	Abnormality of the vasculature	90993	CREB3L1	OMIM:616229
HP:0002597	Abnormality of the vasculature	2159	F10	ORPHA:328
HP:0002597	Abnormality of the vasculature	9103	FCGR2C	ORPHA:3002
HP:0002597	Abnormality of the vasculature	2155	F7	ORPHA:327
HP:0002597	Abnormality of the vasculature	2155	F7	OMIM:227500
HP:0002597	Abnormality of the vasculature	1289	COL5A1	ORPHA:287
HP:0002597	Abnormality of the vasculature	1289	COL5A1	OMIM:130000
HP:0002597	Abnormality of the vasculature	1290	COL5A2	ORPHA:287
HP:0002597	Abnormality of the vasculature	1290	COL5A2	OMIM:130010
HP:0002597	Abnormality of the vasculature	4627	MYH9	OMIM:155100
HP:0002597	Abnormality of the vasculature	4627	MYH9	ORPHA:182050
HP:0002597	Abnormality of the vasculature	22852	ANKRD26	OMIM:188000
HP:0002597	Abnormality of the vasculature	9509	ADAMTS2	OMIM:225410
HP:0002597	Abnormality of the vasculature	2178	FANCE	OMIM:600901
HP:0002597	Abnormality of the vasculature	11107	PRDM5	OMIM:614170
HP:0002597	Abnormality of the vasculature	11107	PRDM5	ORPHA:90354
HP:0002597	Abnormality of the vasculature	633	BGN	OMIM:300989
HP:0002597	Abnormality of the vasculature	4507	MTAP	OMIM:112250
HP:0002597	Abnormality of the vasculature	8985	PLOD3	OMIM:612394
HP:0002597	Abnormality of the vasculature	5328	PLAU	OMIM:601709
HP:0002597	Abnormality of the vasculature	342618	SLFN14	OMIM:616913
HP:0002597	Abnormality of the vasculature	9049	AIP	OMIM:219090
HP:0002597	Abnormality of the vasculature	2316	FLNA	ORPHA:75497
HP:0002597	Abnormality of the vasculature	7450	VWF	OMIM:193400
HP:0002597	Abnormality of the vasculature	7450	VWF	OMIM:613554
HP:0002597	Abnormality of the vasculature	7450	VWF	OMIM:277480
HP:0002597	Abnormality of the vasculature	716	C1S	OMIM:617174
HP:0002597	Abnormality of the vasculature	5566	PRKACA	OMIM:615830
HP:0002597	Abnormality of the vasculature	540	ATP7B	ORPHA:905
HP:0002597	Abnormality of the vasculature	7058	THBS2	OMIM:620865
HP:0002597	Abnormality of the vasculature	3257	HPS1	OMIM:203300
HP:0002597	Abnormality of the vasculature	64805	P2RY12	OMIM:609821
HP:0002597	Abnormality of the vasculature	5345	SERPINF2	ORPHA:79
HP:0002597	Abnormality of the vasculature	5345	SERPINF2	OMIM:262850
HP:0002597	Abnormality of the vasculature	715	C1R	OMIM:130080
HP:0002597	Abnormality of the vasculature	89781	HPS4	OMIM:614073
HP:0002597	Abnormality of the vasculature	11234	HPS5	OMIM:614074
HP:0002597	Abnormality of the vasculature	2934	GSN	ORPHA:85448
HP:0002597	Abnormality of the vasculature	84343	HPS3	OMIM:614072
HP:0002597	Abnormality of the vasculature	388552	BLOC1S3	OMIM:614077
HP:0002597	Abnormality of the vasculature	5594	MAPK1	OMIM:619087
HP:0002597	Abnormality of the vasculature	3998	LMAN1	ORPHA:35909
HP:0002597	Abnormality of the vasculature	90411	MCFD2	ORPHA:35909
HP:0002597	Abnormality of the vasculature	200931	SLC51A	OMIM:619484
HP:0002597	Abnormality of the vasculature	79803	HPS6	OMIM:614075
HP:0002597	Abnormality of the vasculature	84062	DTNBP1	OMIM:614076
HP:0002597	Abnormality of the vasculature	6786	STIM1	OMIM:185070
HP:0002597	Abnormality of the vasculature	79798	ARMC5	ORPHA:189427
HP:0002597	Abnormality of the vasculature	23028	KDM1A	ORPHA:189427
HP:0002597	Abnormality of the vasculature	10020	GNE	OMIM:620757
HP:0002597	Abnormality of the vasculature	84627	ZNF469	ORPHA:90354
HP:0002597	Abnormality of the vasculature	23387	SIK3	OMIM:618162
HP:0002597	Abnormality of the vasculature	126792	B3GALT6	ORPHA:536467
HP:0002597	Abnormality of the vasculature	11117	EMILIN1	OMIM:620080
HP:0002597	Abnormality of the vasculature	2177	FANCD2	OMIM:227646
HP:0002597	Abnormality of the vasculature	2176	FANCC	OMIM:227645
HP:0002597	Abnormality of the vasculature	6915	TBXA2R	OMIM:614009
HP:0002597	Abnormality of the vasculature	2147	F2	OMIM:613679
HP:0002597	Abnormality of the vasculature	2624	GATA2	ORPHA:228423
HP:0002597	Abnormality of the vasculature	7171	TPM4	OMIM:620486
HP:0002597	Abnormality of the vasculature	5795	PTPRJ	OMIM:620484
HP:0002597	Abnormality of the vasculature	4914	NTRK1	ORPHA:642
HP:0002597	Abnormality of the vasculature	5371	PML	ORPHA:520
HP:0002597	Abnormality of the vasculature	5914	RARA	ORPHA:520
HP:0002597	Abnormality of the vasculature	359948	IRF2BP2	ORPHA:520
HP:0002597	Abnormality of the vasculature	81608	FIP1L1	ORPHA:520
HP:0002597	Abnormality of the vasculature	54880	BCOR	ORPHA:520
HP:0002597	Abnormality of the vasculature	64859	NABP1	ORPHA:520
HP:0002597	Abnormality of the vasculature	6777	STAT5B	ORPHA:520
HP:0002597	Abnormality of the vasculature	4926	NUMA1	ORPHA:520
HP:0002597	Abnormality of the vasculature	7704	ZBTB16	ORPHA:520
HP:0002597	Abnormality of the vasculature	79718	TBL1XR1	ORPHA:520
HP:0002597	Abnormality of the vasculature	91252	SLC39A13	ORPHA:157965
HP:0002597	Abnormality of the vasculature	91252	SLC39A13	OMIM:612350
HP:0002597	Abnormality of the vasculature	335	APOA1	OMIM:620657
HP:0002597	Abnormality of the vasculature	5604	MAP2K1	OMIM:163950
HP:0002597	Abnormality of the vasculature	8328	GFI1B	OMIM:187900
HP:0002597	Abnormality of the vasculature	720	C4A	OMIM:614380
HP:0002597	Abnormality of the vasculature	975	CD81	OMIM:613496
HP:0002597	Abnormality of the vasculature	975	CD81	ORPHA:1572
HP:0002597	Abnormality of the vasculature	3115	HLA-DPB1	ORPHA:900
HP:0002597	Abnormality of the vasculature	5657	PRTN3	ORPHA:900
HP:0002597	Abnormality of the vasculature	3113	HLA-DPA1	ORPHA:900
HP:0002597	Abnormality of the vasculature	7036	TFR2	OMIM:604250
HP:0002597	Abnormality of the vasculature	3673	ITGA2	ORPHA:853
HP:0002597	Abnormality of the vasculature	135228	CD109	ORPHA:853
HP:0002597	Abnormality of the vasculature	2533	FYB1	OMIM:273900
HP:0002597	Abnormality of the vasculature	54	ACP5	OMIM:607944
HP:0002597	Abnormality of the vasculature	9630	GNA14	ORPHA:1063
HP:0002597	Abnormality of the vasculature	84876	ORAI1	ORPHA:3204
HP:0002597	Abnormality of the vasculature	717	C2	OMIM:217000
HP:0002597	Abnormality of the vasculature	4790	NFKB1	ORPHA:1572
HP:0002597	Abnormality of the vasculature	4791	NFKB2	ORPHA:1572
HP:0002597	Abnormality of the vasculature	8742	TNFSF12	ORPHA:1572
HP:0002597	Abnormality of the vasculature	931	MS4A1	ORPHA:1572
HP:0002597	Abnormality of the vasculature	3207	HOXA11	OMIM:605432
HP:0002597	Abnormality of the vasculature	10878	CFHR3	OMIM:235400
HP:0002597	Abnormality of the vasculature	3075	CFH	OMIM:235400
HP:0002597	Abnormality of the vasculature	3078	CFHR1	OMIM:235400
HP:0002597	Abnormality of the vasculature	80036	TRPM3	OMIM:620224
HP:0002597	Abnormality of the vasculature	9939	RBM8A	OMIM:274000
HP:0002597	Abnormality of the vasculature	1643	DDB2	OMIM:278740
HP:0002597	Abnormality of the vasculature	1643	DDB2	ORPHA:910
HP:0002597	Abnormality of the vasculature	11284	PNKP	ORPHA:459033
HP:0002597	Abnormality of the vasculature	5590	PRKCZ	ORPHA:1606
HP:0002597	Abnormality of the vasculature	2563	GABRD	ORPHA:1606
HP:0002597	Abnormality of the vasculature	23013	SPEN	ORPHA:1606
HP:0002597	Abnormality of the vasculature	8510	MMP23B	ORPHA:1606
HP:0002597	Abnormality of the vasculature	7798	LUZP1	ORPHA:1606
HP:0002597	Abnormality of the vasculature	6497	SKI	ORPHA:1606
HP:0002597	Abnormality of the vasculature	10630	PDPN	ORPHA:1606
HP:0002597	Abnormality of the vasculature	3339	HSPG2	ORPHA:1606
HP:0002597	Abnormality of the vasculature	10277	UBE4B	ORPHA:1606
HP:0002597	Abnormality of the vasculature	8514	KCNAB2	ORPHA:1606
HP:0002597	Abnormality of the vasculature	473	RERE	ORPHA:1606
HP:0002597	Abnormality of the vasculature	63976	PRDM16	ORPHA:1606
HP:0002597	Abnormality of the vasculature	54897	CASZ1	ORPHA:1606
HP:0002597	Abnormality of the vasculature	1729	DIAPH1	ORPHA:2573
HP:0002597	Abnormality of the vasculature	57674	RNF213	ORPHA:2573
HP:0002597	Abnormality of the vasculature	7507	XPA	OMIM:278700
HP:0002597	Abnormality of the vasculature	7507	XPA	ORPHA:910
HP:0002597	Abnormality of the vasculature	79650	USB1	OMIM:604173
HP:0002597	Abnormality of the vasculature	9401	RECQL4	OMIM:268400
HP:0002597	Abnormality of the vasculature	6888	TALDO1	ORPHA:101028
HP:0002597	Abnormality of the vasculature	6888	TALDO1	OMIM:606003
HP:0002597	Abnormality of the vasculature	1294	COL7A1	ORPHA:158673
HP:0002597	Abnormality of the vasculature	6812	STXBP1	ORPHA:495818
HP:0002597	Abnormality of the vasculature	2074	ERCC6	OMIM:600630
HP:0002597	Abnormality of the vasculature	2074	ERCC6	OMIM:278800
HP:0002597	Abnormality of the vasculature	8813	DPM1	OMIM:608799
HP:0002597	Abnormality of the vasculature	84992	PIGY	ORPHA:247262
HP:0002597	Abnormality of the vasculature	84720	PIGO	ORPHA:247262
HP:0002597	Abnormality of the vasculature	93210	PGAP3	ORPHA:247262
HP:0002597	Abnormality of the vasculature	284098	PIGW	ORPHA:247262
HP:0002597	Abnormality of the vasculature	27315	PGAP2	ORPHA:247262
HP:0002597	Abnormality of the vasculature	55650	PIGV	ORPHA:247262
HP:0002597	Abnormality of the vasculature	9487	PIGL	ORPHA:247262
HP:0002597	Abnormality of the vasculature	57654	UVSSA	OMIM:614640
HP:0002597	Abnormality of the vasculature	545	ATR	OMIM:614564
HP:0002597	Abnormality of the vasculature	4361	MRE11	OMIM:604391
HP:0002597	Abnormality of the vasculature	7508	XPC	OMIM:278720
HP:0002597	Abnormality of the vasculature	7508	XPC	ORPHA:910
HP:0002597	Abnormality of the vasculature	5429	POLH	ORPHA:90342
HP:0002597	Abnormality of the vasculature	641	BLM	ORPHA:125
HP:0002597	Abnormality of the vasculature	2068	ERCC2	OMIM:601675
HP:0002597	Abnormality of the vasculature	2068	ERCC2	OMIM:278730
HP:0002597	Abnormality of the vasculature	2068	ERCC2	ORPHA:910
HP:0002597	Abnormality of the vasculature	659	BMPR2	OMIM:178600
HP:0002597	Abnormality of the vasculature	165918	RNF168	ORPHA:420741
HP:0002597	Abnormality of the vasculature	4668	NAGA	ORPHA:79279
HP:0002597	Abnormality of the vasculature	2071	ERCC3	ORPHA:910
HP:0002597	Abnormality of the vasculature	2072	ERCC4	ORPHA:910
HP:0002597	Abnormality of the vasculature	2073	ERCC5	ORPHA:910
HP:0002597	Abnormality of the vasculature	650	BMP2	OMIM:235200
HP:0002597	Abnormality of the vasculature	64682	ANAPC1	ORPHA:221008
HP:0002597	Abnormality of the vasculature	2717	GLA	OMIM:301500
HP:0002597	Abnormality of the vasculature	2717	GLA	ORPHA:324
HP:0002597	Abnormality of the vasculature	4126	MANBA	OMIM:248510
HP:0002597	Abnormality of the vasculature	29957	SLC25A24	OMIM:612289
HP:0002597	Abnormality of the vasculature	92579	G6PC3	OMIM:612541
HP:0002597	Abnormality of the vasculature	8815	BANF1	OMIM:614008
HP:0002597	Abnormality of the vasculature	5468	PPARG	ORPHA:528
HP:0002597	Abnormality of the vasculature	5468	PPARG	OMIM:604367
HP:0002597	Abnormality of the vasculature	10555	AGPAT2	ORPHA:528
HP:0002597	Abnormality of the vasculature	284119	CAVIN1	ORPHA:528
HP:0002597	Abnormality of the vasculature	26580	BSCL2	ORPHA:528
HP:0002597	Abnormality of the vasculature	2353	FOS	ORPHA:528
HP:0002597	Abnormality of the vasculature	25839	COG4	OMIM:618150
HP:0002597	Abnormality of the vasculature	221496	LEMD2	OMIM:619322
HP:0002597	Abnormality of the vasculature	529	ATP6V1E1	OMIM:617402
HP:0002597	Abnormality of the vasculature	84919	PPP1R15B	OMIM:616817
HP:0002597	Abnormality of the vasculature	7424	VEGFC	OMIM:615907
HP:0002597	Abnormality of the vasculature	3815	KIT	ORPHA:280785
HP:0002597	Abnormality of the vasculature	3815	KIT	OMIM:154800
HP:0002597	Abnormality of the vasculature	3815	KIT	ORPHA:98849
HP:0002597	Abnormality of the vasculature	3815	KIT	OMIM:606764
HP:0002597	Abnormality of the vasculature	355	FAS	ORPHA:3261
HP:0002597	Abnormality of the vasculature	355	FAS	OMIM:601859
HP:0002597	Abnormality of the vasculature	356	FASLG	ORPHA:3261
HP:0002597	Abnormality of the vasculature	356	FASLG	OMIM:601859
HP:0002597	Abnormality of the vasculature	843	CASP10	ORPHA:3261
HP:0002597	Abnormality of the vasculature	843	CASP10	OMIM:603909
HP:0002597	Abnormality of the vasculature	10262	SF3B4	OMIM:154400
HP:0002597	Abnormality of the vasculature	114548	NLRP3	OMIM:617772
HP:0002597	Abnormality of the vasculature	114548	NLRP3	OMIM:191900
HP:0002597	Abnormality of the vasculature	114548	NLRP3	ORPHA:575
HP:0002597	Abnormality of the vasculature	114548	NLRP3	ORPHA:47045
HP:0002597	Abnormality of the vasculature	114548	NLRP3	ORPHA:1451
HP:0002597	Abnormality of the vasculature	114548	NLRP3	OMIM:120100
HP:0002597	Abnormality of the vasculature	5880	RAC2	OMIM:618987
HP:0002597	Abnormality of the vasculature	118429	ANTXR2	ORPHA:2176
HP:0002597	Abnormality of the vasculature	7454	WAS	ORPHA:906
HP:0002597	Abnormality of the vasculature	7456	WIPF1	ORPHA:906
HP:0002597	Abnormality of the vasculature	3119	HLA-DQB1	ORPHA:703
HP:0002597	Abnormality of the vasculature	4598	MVK	ORPHA:343
HP:0002597	Abnormality of the vasculature	7512	XPNPEP2	ORPHA:100057
HP:0002597	Abnormality of the vasculature	58484	NLRC4	OMIM:616050
HP:0002597	Abnormality of the vasculature	58484	NLRC4	OMIM:616115
HP:0002597	Abnormality of the vasculature	11005	SPINK5	OMIM:256500
HP:0002597	Abnormality of the vasculature	11005	SPINK5	ORPHA:634
HP:0002597	Abnormality of the vasculature	224	ALDH3A2	ORPHA:816
HP:0002597	Abnormality of the vasculature	91662	NLRP12	OMIM:611762
HP:0002597	Abnormality of the vasculature	710	SERPING1	ORPHA:100050
HP:0002597	Abnormality of the vasculature	868	CBLB	OMIM:620430
HP:0002597	Abnormality of the vasculature	6785	ELOVL4	ORPHA:1955
HP:0002597	Abnormality of the vasculature	1369	CPN1	OMIM:212070
HP:0002597	Abnormality of the vasculature	51360	MBTPS2	ORPHA:2273
HP:0002597	Abnormality of the vasculature	50943	FOXP3	ORPHA:37042
HP:0002597	Abnormality of the vasculature	6390	SDHB	OMIM:606764
HP:0002597	Abnormality of the vasculature	6391	SDHC	OMIM:606764
HP:0002597	Abnormality of the vasculature	80216	ALPK1	OMIM:614979
HP:0002597	Abnormality of the vasculature	4067	LYN	OMIM:620376
HP:0002597	Abnormality of the vasculature	30817	ADGRE2	OMIM:125630
HP:0002597	Abnormality of the vasculature	8036	SHOC2	OMIM:607721
HP:0002597	Abnormality of the vasculature	8367	H4C5	OMIM:619950
HP:0002597	Abnormality of the vasculature	23135	KDM6B	OMIM:618505
HP:0002597	Abnormality of the vasculature	55654	TMEM127	OMIM:171300
HP:0002597	Abnormality of the vasculature	4149	MAX	OMIM:171300
HP:0002597	Abnormality of the vasculature	5979	RET	OMIM:171300
HP:0002597	Abnormality of the vasculature	3265	HRAS	OMIM:163200
HP:0002597	Abnormality of the vasculature	3265	HRAS	ORPHA:2874
HP:0002597	Abnormality of the vasculature	64324	NSD1	ORPHA:821
HP:0002597	Abnormality of the vasculature	10297	APC2	ORPHA:821
HP:0002597	Abnormality of the vasculature	284058	KANSL1	ORPHA:363965
HP:0002597	Abnormality of the vasculature	284058	KANSL1	ORPHA:363958
HP:0002597	Abnormality of the vasculature	2324	FLT4	OMIM:153100
HP:0002597	Abnormality of the vasculature	10483	SEC23B	OMIM:616858
HP:0002597	Abnormality of the vasculature	5476	CTSA	OMIM:256540
HP:0002597	Abnormality of the vasculature	2260	FGFR1	ORPHA:280200
HP:0002597	Abnormality of the vasculature	28514	DLL1	ORPHA:280200
HP:0002597	Abnormality of the vasculature	2253	FGF8	ORPHA:280200
HP:0002597	Abnormality of the vasculature	6496	SIX3	ORPHA:280200
HP:0002597	Abnormality of the vasculature	7050	TGIF1	ORPHA:280200
HP:0002597	Abnormality of the vasculature	4838	NODAL	ORPHA:280200
HP:0002597	Abnormality of the vasculature	6469	SHH	ORPHA:280200
HP:0002597	Abnormality of the vasculature	51684	SUFU	ORPHA:280200
HP:0002597	Abnormality of the vasculature	7546	ZIC2	ORPHA:280200
HP:0002597	Abnormality of the vasculature	2619	GAS1	ORPHA:280200
HP:0002597	Abnormality of the vasculature	84976	DISP1	ORPHA:280200
HP:0002597	Abnormality of the vasculature	2736	GLI2	ORPHA:280200
HP:0002597	Abnormality of the vasculature	8928	FOXH1	ORPHA:280200
HP:0002597	Abnormality of the vasculature	6997	CRIPTO	ORPHA:280200
HP:0002597	Abnormality of the vasculature	5727	PTCH1	ORPHA:280200
HP:0002597	Abnormality of the vasculature	50937	CDON	ORPHA:280200
HP:0002597	Abnormality of the vasculature	5745	PTH1R	ORPHA:296
HP:0002597	Abnormality of the vasculature	3418	IDH2	ORPHA:296
HP:0002597	Abnormality of the vasculature	3417	IDH1	ORPHA:296
HP:0002597	Abnormality of the vasculature	10082	GPC6	OMIM:258315
HP:0002597	Abnormality of the vasculature	340665	CYP26C1	ORPHA:398189
HP:0002597	Abnormality of the vasculature	23219	FBXO28	OMIM:619777
HP:0002597	Abnormality of the vasculature	55901	THSD1	OMIM:620244
HP:0002597	Abnormality of the vasculature	10312	TCIRG1	ORPHA:486
HP:0002597	Abnormality of the vasculature	6728	SRP19	ORPHA:486
HP:0002597	Abnormality of the vasculature	1991	ELANE	ORPHA:486
HP:0002597	Abnormality of the vasculature	2672	GFI1	ORPHA:486
HP:0002597	Abnormality of the vasculature	81570	CLPB	ORPHA:486
HP:0002597	Abnormality of the vasculature	10943	MSL3	OMIM:301032
HP:0002597	Abnormality of the vasculature	10815	CPLX1	ORPHA:280
HP:0002597	Abnormality of the vasculature	10815	CPLX1	OMIM:194190
HP:0002597	Abnormality of the vasculature	54872	PIGG	ORPHA:280
HP:0002597	Abnormality of the vasculature	7469	NELFA	ORPHA:280
HP:0002597	Abnormality of the vasculature	1487	CTBP1	ORPHA:280
HP:0002597	Abnormality of the vasculature	1487	CTBP1	OMIM:194190
HP:0002597	Abnormality of the vasculature	3954	LETM1	ORPHA:280
HP:0002597	Abnormality of the vasculature	3954	LETM1	OMIM:194190
HP:0002597	Abnormality of the vasculature	7468	NSD2	ORPHA:280
HP:0002597	Abnormality of the vasculature	7468	NSD2	OMIM:194190
HP:0002597	Abnormality of the vasculature	2475	MTOR	ORPHA:457485
HP:0002597	Abnormality of the vasculature	7020	TFAP2A	ORPHA:1297
HP:0002597	Abnormality of the vasculature	657	BMPR1A	ORPHA:79076
HP:0002597	Abnormality of the vasculature	53834	FGFRL1	OMIM:194190
HP:0002597	Abnormality of the vasculature	78987	CRELD1	OMIM:620771
HP:0002597	Abnormality of the vasculature	399	RHOH	OMIM:618307
HP:0002597	Abnormality of the vasculature	3785	KCNQ2	ORPHA:439218
HP:0002597	Abnormality of the vasculature	11128	POLR3A	OMIM:264090
HP:0002597	Abnormality of the vasculature	11128	POLR3A	ORPHA:3455
HP:0002597	Abnormality of the vasculature	26834	RNU4-2	OMIM:620851
HP:0002597	Abnormality of the vasculature	79158	GNPTAB	OMIM:252500
HP:0002597	Abnormality of the vasculature	274	BIN1	ORPHA:169189
HP:0002597	Abnormality of the vasculature	64419	MTMR14	ORPHA:169189
HP:0002597	Abnormality of the vasculature	4618	MYF6	ORPHA:169189
HP:0002597	Abnormality of the vasculature	1785	DNM2	ORPHA:169189
HP:0002597	Abnormality of the vasculature	3239	HOXD13	ORPHA:887
HP:0002597	Abnormality of the vasculature	2720	GLB1	OMIM:230500
HP:0002597	Abnormality of the vasculature	2535	FZD2	OMIM:164745
HP:0002597	Abnormality of the vasculature	1836	SLC26A2	OMIM:222600
HP:0002597	Abnormality of the vasculature	6909	TBX2	OMIM:618223
HP:0002597	Abnormality of the vasculature	3291	HSD11B2	ORPHA:320
HP:0002597	Abnormality of the vasculature	3291	HSD11B2	OMIM:218030
HP:0002597	Abnormality of the vasculature	1743	DLST	ORPHA:29072
HP:0002597	Abnormality of the vasculature	4191	MDH2	ORPHA:29072
HP:0002597	Abnormality of the vasculature	6389	SDHA	ORPHA:29072
HP:0002597	Abnormality of the vasculature	23095	KIF1B	ORPHA:29072
HP:0002597	Abnormality of the vasculature	2271	FH	ORPHA:29072
HP:0002597	Abnormality of the vasculature	8402	SLC25A11	ORPHA:29072
HP:0002597	Abnormality of the vasculature	54949	SDHAF2	ORPHA:29072
HP:0002597	Abnormality of the vasculature	6392	SDHD	ORPHA:29072
HP:0002597	Abnormality of the vasculature	6392	SDHD	ORPHA:276621
HP:0002597	Abnormality of the vasculature	1788	DNMT3A	ORPHA:276621
HP:0002597	Abnormality of the vasculature	2034	EPAS1	ORPHA:276621
HP:0002597	Abnormality of the vasculature	2255	FGF10	ORPHA:2363
HP:0002597	Abnormality of the vasculature	3141	HLCS	ORPHA:79242
HP:0002597	Abnormality of the vasculature	7389	UROD	ORPHA:95159
HP:0002597	Abnormality of the vasculature	54765	TRIM44	ORPHA:250923
HP:0002597	Abnormality of the vasculature	1308	COL17A1	ORPHA:293381
HP:0002597	Abnormality of the vasculature	29926	GMPPA	ORPHA:869
HP:0002597	Abnormality of the vasculature	60684	TRAPPC11	ORPHA:869
HP:0002597	Abnormality of the vasculature	8086	AAAS	ORPHA:869
HP:0002597	Abnormality of the vasculature	4081	MAB21L1	OMIM:618479
HP:0002597	Abnormality of the vasculature	4081	MAB21L1	ORPHA:495875
HP:0002597	Abnormality of the vasculature	488	ATP2A2	ORPHA:218
HP:0002597	Abnormality of the vasculature	4547	MTTP	ORPHA:14
HP:0002597	Abnormality of the vasculature	4069	LYZ	OMIM:620658
HP:0002597	Abnormality of the vasculature	4524	MTHFR	ORPHA:395
HP:0002597	Abnormality of the vasculature	4524	MTHFR	OMIM:236250
HP:0002597	Abnormality of the vasculature	6331	SCN5A	OMIM:614022
HP:0002597	Abnormality of the vasculature	6331	SCN5A	OMIM:601154
HP:0002597	Abnormality of the vasculature	55503	TRPV6	OMIM:618188
HP:0002597	Abnormality of the vasculature	5009	OTC	OMIM:311250
HP:0002597	Abnormality of the vasculature	4625	MYH7	ORPHA:1880
HP:0002597	Abnormality of the vasculature	2997	GYS1	OMIM:611556
HP:0002597	Abnormality of the vasculature	7174	TPP2	ORPHA:444463
HP:0002597	Abnormality of the vasculature	9342	SNAP29	ORPHA:66631
HP:0002597	Abnormality of the vasculature	10560	SLC19A2	ORPHA:49827
HP:0002597	Abnormality of the vasculature	10560	SLC19A2	OMIM:249270
HP:0002597	Abnormality of the vasculature	11093	ADAMTS13	OMIM:274150
HP:0002597	Abnormality of the vasculature	9149	DYRK1B	OMIM:615812
HP:0002597	Abnormality of the vasculature	5346	PLIN1	OMIM:613877
HP:0002597	Abnormality of the vasculature	55107	ANO1	OMIM:620687
HP:0002597	Abnormality of the vasculature	128989	TANGO2	ORPHA:480864
HP:0002597	Abnormality of the vasculature	5277	PIGA	ORPHA:447
HP:0002597	Abnormality of the vasculature	2318	FLNC	OMIM:617047
HP:0002597	Abnormality of the vasculature	2318	FLNC	ORPHA:75249
HP:0002597	Abnormality of the vasculature	4204	MECP2	ORPHA:3077
HP:0002597	Abnormality of the vasculature	10370	CITED2	ORPHA:99105
HP:0002597	Abnormality of the vasculature	10370	CITED2	ORPHA:99103
HP:0002597	Abnormality of the vasculature	1471	CST3	OMIM:105150
HP:0002597	Abnormality of the vasculature	1471	CST3	ORPHA:100008
HP:0002597	Abnormality of the vasculature	7092	TLL1	ORPHA:99103
HP:0002597	Abnormality of the vasculature	57057	TBX20	ORPHA:99103
HP:0002597	Abnormality of the vasculature	4624	MYH6	ORPHA:99103
HP:0002597	Abnormality of the vasculature	1482	NKX2-5	ORPHA:99103
HP:0002597	Abnormality of the vasculature	70	ACTC1	ORPHA:99103
HP:0002597	Abnormality of the vasculature	2626	GATA4	ORPHA:99103
HP:0002597	Abnormality of the vasculature	2627	GATA6	ORPHA:99103
HP:0002597	Abnormality of the vasculature	4607	MYBPC3	OMIM:115197
HP:0002597	Abnormality of the vasculature	84665	MYPN	ORPHA:75249
HP:0002597	Abnormality of the vasculature	7139	TNNT2	ORPHA:75249
HP:0002597	Abnormality of the vasculature	7137	TNNI3	ORPHA:75249
HP:0002597	Abnormality of the vasculature	64131	XYLT1	OMIM:264800
HP:0002597	Abnormality of the vasculature	64132	XYLT2	OMIM:264800
HP:0002597	Abnormality of the vasculature	80206	FHOD3	OMIM:619402
HP:0002597	Abnormality of the vasculature	50485	SMARCAL1	ORPHA:1830
HP:0002597	Abnormality of the vasculature	50485	SMARCAL1	OMIM:242900
HP:0002597	Abnormality of the vasculature	7276	TTR	ORPHA:85451
HP:0002597	Abnormality of the vasculature	182	JAG1	OMIM:118450
HP:0002597	Abnormality of the vasculature	28976	ACAD9	OMIM:611126
HP:0002597	Abnormality of the vasculature	4846	NOS3	OMIM:601367
HP:0002597	Abnormality of the vasculature	5583	PRKCH	OMIM:601367
HP:0002597	Abnormality of the vasculature	241	ALOX5AP	OMIM:601367
HP:0002597	Abnormality of the vasculature	727676	SNORD118	ORPHA:542310
HP:0002597	Abnormality of the vasculature	162417	NAGS	ORPHA:927
HP:0002597	Abnormality of the vasculature	25974	MMACHC	ORPHA:79282
HP:0002597	Abnormality of the vasculature	445	ASS1	OMIM:215700
HP:0002597	Abnormality of the vasculature	5286	PIK3C2A	ORPHA:557003
HP:0002597	Abnormality of the vasculature	4860	PNP	ORPHA:760
HP:0002597	Abnormality of the vasculature	1373	CPS1	OMIM:237300
HP:0002597	Abnormality of the vasculature	4594	MMUT	ORPHA:79312
HP:0002597	Abnormality of the vasculature	25978	CHMP2B	ORPHA:100070
HP:0002597	Abnormality of the vasculature	5663	PSEN1	ORPHA:100070
HP:0002597	Abnormality of the vasculature	2896	GRN	ORPHA:100070
HP:0002597	Abnormality of the vasculature	54664	TMEM106B	ORPHA:100070
HP:0002597	Abnormality of the vasculature	54209	TREM2	ORPHA:100070
HP:0002597	Abnormality of the vasculature	7415	VCP	ORPHA:100070
HP:0002597	Abnormality of the vasculature	2057	EPOR	OMIM:133100
HP:0002597	Abnormality of the vasculature	6608	SMO	ORPHA:2495
HP:0002597	Abnormality of the vasculature	6605	SMARCE1	ORPHA:2495
HP:0002597	Abnormality of the vasculature	3032	HADHB	OMIM:620300
HP:0002597	Abnormality of the vasculature	2335	FN1	ORPHA:84090
HP:0002597	Abnormality of the vasculature	4179	CD46	ORPHA:244242
HP:0002597	Abnormality of the vasculature	101101692	HELLPAR	ORPHA:244242
HP:0002597	Abnormality of the vasculature	58	ACTA1	OMIM:620278
HP:0002597	Abnormality of the vasculature	442721	LMOD2	OMIM:619897
HP:0002597	Abnormality of the vasculature	11274	USP18	OMIM:617397
HP:0002597	Abnormality of the vasculature	2582	GALE	OMIM:620776
HP:0002597	Abnormality of the vasculature	171023	ASXL1	ORPHA:98850
HP:0002597	Abnormality of the vasculature	54790	TET2	ORPHA:98850
HP:0002597	Abnormality of the vasculature	54790	TET2	ORPHA:824
HP:0002597	Abnormality of the vasculature	861	RUNX1	ORPHA:98850
HP:0002597	Abnormality of the vasculature	6427	SRSF2	ORPHA:98850
HP:0002597	Abnormality of the vasculature	7840	ALMS1	ORPHA:64
HP:0002597	Abnormality of the vasculature	5314	PKHD1	OMIM:263200
HP:0002597	Abnormality of the vasculature	5314	PKHD1	ORPHA:53035
HP:0002597	Abnormality of the vasculature	5314	PKHD1	ORPHA:731
HP:0002597	Abnormality of the vasculature	55532	SLC30A10	ORPHA:309854
HP:0002597	Abnormality of the vasculature	72	ACTG2	OMIM:619431
HP:0002597	Abnormality of the vasculature	2632	GBE1	OMIM:232500
HP:0002597	Abnormality of the vasculature	9414	TJP2	OMIM:615878
HP:0002597	Abnormality of the vasculature	811	CALR	ORPHA:824
HP:0002597	Abnormality of the vasculature	811	CALR	ORPHA:131
HP:0002597	Abnormality of the vasculature	4352	MPL	ORPHA:824
HP:0002597	Abnormality of the vasculature	3717	JAK2	ORPHA:824
HP:0002597	Abnormality of the vasculature	3717	JAK2	ORPHA:131
HP:0002597	Abnormality of the vasculature	3717	JAK2	ORPHA:729
HP:0002597	Abnormality of the vasculature	10056	FARSB	OMIM:613658
HP:0002597	Abnormality of the vasculature	91147	TMEM67	OMIM:216360
HP:0002597	Abnormality of the vasculature	91147	TMEM67	ORPHA:84081
HP:0002597	Abnormality of the vasculature	91147	TMEM67	ORPHA:1454
HP:0002597	Abnormality of the vasculature	197131	UBR1	OMIM:243800
HP:0002597	Abnormality of the vasculature	3594	IL12RB1	ORPHA:186
HP:0002597	Abnormality of the vasculature	23534	TNPO3	ORPHA:186
HP:0002597	Abnormality of the vasculature	3592	IL12A	ORPHA:186
HP:0002597	Abnormality of the vasculature	6689	SPIB	ORPHA:186
HP:0002597	Abnormality of the vasculature	5450	POU2AF1	ORPHA:186
HP:0002597	Abnormality of the vasculature	9966	TNFSF15	ORPHA:186
HP:0002597	Abnormality of the vasculature	79258	MMEL1	ORPHA:186
HP:0002597	Abnormality of the vasculature	3663	IRF5	ORPHA:186
HP:0002597	Abnormality of the vasculature	100147744	RNU7-1	OMIM:619487
HP:0002597	Abnormality of the vasculature	79991	STN1	OMIM:617341
HP:0002597	Abnormality of the vasculature	27031	NPHP3	OMIM:208540
HP:0002597	Abnormality of the vasculature	27031	NPHP3	OMIM:267010
HP:0002597	Abnormality of the vasculature	83737	ITCH	OMIM:613385
HP:0002597	Abnormality of the vasculature	83737	ITCH	ORPHA:228426
HP:0002597	Abnormality of the vasculature	1716	DGUOK	OMIM:617068
HP:0002597	Abnormality of the vasculature	1716	DGUOK	OMIM:251880
HP:0002597	Abnormality of the vasculature	50674	NEUROG3	ORPHA:83620
HP:0002597	Abnormality of the vasculature	84936	ZFYVE19	OMIM:619849
HP:0002597	Abnormality of the vasculature	169792	GLIS3	OMIM:610199
HP:0002597	Abnormality of the vasculature	51473	DCDC2	ORPHA:84081
HP:0002597	Abnormality of the vasculature	51473	DCDC2	OMIM:617394
HP:0002597	Abnormality of the vasculature	23729	SHPK	ORPHA:440713
HP:0002597	Abnormality of the vasculature	9076	CLDN1	ORPHA:59303
HP:0002597	Abnormality of the vasculature	9076	CLDN1	OMIM:607626
HP:0002597	Abnormality of the vasculature	5698	PSMB9	OMIM:620796
HP:0002597	Abnormality of the vasculature	2006	ELN	OMIM:194050
HP:0002597	Abnormality of the vasculature	51085	MLXIPL	OMIM:194050
HP:0002597	Abnormality of the vasculature	3516	RBPJ	ORPHA:974
HP:0002597	Abnormality of the vasculature	4851	NOTCH1	ORPHA:974
HP:0002597	Abnormality of the vasculature	57514	ARHGAP31	ORPHA:974
HP:0002597	Abnormality of the vasculature	57572	DOCK6	ORPHA:974
HP:0002597	Abnormality of the vasculature	285203	EOGT	ORPHA:974
HP:0002597	Abnormality of the vasculature	54567	DLL4	ORPHA:974
HP:0002597	Abnormality of the vasculature	54567	DLL4	OMIM:616589
HP:0002597	Abnormality of the vasculature	199221	DZIP1L	ORPHA:731
HP:0002597	Abnormality of the vasculature	9968	MED12	OMIM:301068
HP:0002597	Abnormality of the vasculature	4351	MPI	ORPHA:79319
HP:0002597	Abnormality of the vasculature	2153	F5	ORPHA:131
HP:0002597	Abnormality of the vasculature	2859	GPR35	ORPHA:171
HP:0002597	Abnormality of the vasculature	10507	SEMA4D	ORPHA:171
HP:0002597	Abnormality of the vasculature	4485	MST1	ORPHA:171
HP:0002597	Abnormality of the vasculature	6925	TCF4	ORPHA:171
HP:0002597	Abnormality of the vasculature	79989	IFT56	OMIM:619534
HP:0002597	Abnormality of the vasculature	3988	LIPA	OMIM:278000
HP:0002597	Abnormality of the vasculature	654	BMP6	ORPHA:465508
HP:0002597	Abnormality of the vasculature	3077	HFE	ORPHA:465508
HP:0002597	Abnormality of the vasculature	5557	PRIM1	OMIM:620005
HP:0002597	Abnormality of the vasculature	92345	NAF1	OMIM:620365
HP:0002597	Abnormality of the vasculature	3431	SP110	ORPHA:79124
HP:0002597	Abnormality of the vasculature	5825	ABCD3	OMIM:616278
HP:0002597	Abnormality of the vasculature	93183	PIGM	OMIM:610293
HP:0002597	Abnormality of the vasculature	55340	GIMAP5	OMIM:619463
HP:0002597	Abnormality of the vasculature	113220	KIF12	OMIM:619662
HP:0002597	Abnormality of the vasculature	7289	TULP3	OMIM:619902
HP:0002597	Abnormality of the vasculature	56623	INPP5E	ORPHA:1454
HP:0002597	Abnormality of the vasculature	23322	RPGRIP1L	ORPHA:1454
HP:0002597	Abnormality of the vasculature	57545	CC2D2A	ORPHA:1454
HP:0002597	Abnormality of the vasculature	2783	GNB2	OMIM:619503
HP:0002597	Abnormality of the vasculature	56244	BTNL2	ORPHA:797
HP:0002597	Abnormality of the vasculature	3123	HLA-DRB1	ORPHA:797
HP:0002597	Abnormality of the vasculature	2629	GBA1	ORPHA:77259
HP:0002597	Abnormality of the vasculature	950	SCARB2	ORPHA:77259
HP:0002597	Abnormality of the vasculature	10466	COG5	ORPHA:263487
HP:0002597	Abnormality of the vasculature	55823	VPS11	ORPHA:466934
HP:0002597	Abnormality of the vasculature	3716	JAK1	OMIM:618999
HP:0002597	Abnormality of the vasculature	2122	MECOM	OMIM:616738
HP:0002597	Abnormality of the vasculature	5251	PHEX	OMIM:307800
HP:0002597	Abnormality of the vasculature	1080	CFTR	OMIM:219700
HP:0002597	Abnormality of the vasculature	2212	FCGR2A	OMIM:219700
HP:0002597	Abnormality of the vasculature	915	CD3D	ORPHA:169160
HP:0002597	Abnormality of the vasculature	916	CD3E	ORPHA:169160
HP:0002597	Abnormality of the vasculature	1777	DNASE2	OMIM:619858
HP:0002597	Abnormality of the vasculature	3376	IARS1	ORPHA:541423
HP:0002597	Abnormality of the vasculature	26154	ABCA12	OMIM:601277
HP:0002597	Abnormality of the vasculature	2584	GALK1	ORPHA:79237
HP:0002597	Abnormality of the vasculature	374354	NHLRC2	OMIM:618278
HP:0002597	Abnormality of the vasculature	10165	SLC25A13	ORPHA:247598
HP:0002597	Abnormality of the vasculature	9371	KIF3B	OMIM:618955
HP:0002597	Abnormality of the vasculature	2729	GCLC	ORPHA:33574
HP:0002597	Abnormality of the vasculature	7841	MOGS	ORPHA:79330
HP:0002597	Abnormality of the vasculature	7030	TFE3	OMIM:301066
HP:0002597	Abnormality of the vasculature	2193	FARSA	OMIM:619013
HP:0002597	Abnormality of the vasculature	5194	PEX13	OMIM:614885
HP:0002597	Abnormality of the vasculature	1513	CTSK	ORPHA:763
HP:0002597	Abnormality of the vasculature	6006	RHCE	ORPHA:71275
HP:0002597	Abnormality of the vasculature	7355	SLC35A2	ORPHA:356961
HP:0002597	Abnormality of the vasculature	23414	ZFPM2	ORPHA:3303
HP:0002597	Abnormality of the vasculature	23414	ZFPM2	OMIM:187500
HP:0002597	Abnormality of the vasculature	8443	GNPAT	OMIM:222765
HP:0002597	Abnormality of the vasculature	26275	HIBCH	ORPHA:88639
HP:0002597	Abnormality of the vasculature	26275	HIBCH	OMIM:250620
HP:0002597	Abnormality of the vasculature	29998	BICRA	OMIM:619325
HP:0002597	Abnormality of the vasculature	83479	DDX59	OMIM:174300
HP:0002597	Abnormality of the vasculature	83479	DDX59	ORPHA:2919
HP:0002597	Abnormality of the vasculature	1147	CHUK	OMIM:613630
HP:0002597	Abnormality of the vasculature	8092	ALX1	ORPHA:306542
HP:0002597	Abnormality of the vasculature	3579	CXCR2	OMIM:619407
HP:0002597	Abnormality of the vasculature	10084	PQBP1	OMIM:309500
HP:0002597	Abnormality of the vasculature	257	ALX3	OMIM:136760
HP:0002597	Abnormality of the vasculature	27152	INTU	OMIM:617925
HP:0002597	Abnormality of the vasculature	27152	INTU	OMIM:617926
HP:0002597	Abnormality of the vasculature	26235	FBXL4	OMIM:615471
HP:0002597	Abnormality of the vasculature	51126	NAA20	OMIM:619717
HP:0002597	Abnormality of the vasculature	7021	TFAP2B	OMIM:169100
HP:0002597	Abnormality of the vasculature	7021	TFAP2B	ORPHA:46627
HP:0002597	Abnormality of the vasculature	7021	TFAP2B	OMIM:617035
HP:0002597	Abnormality of the vasculature	1131	CHRM3	ORPHA:2970
HP:0002597	Abnormality of the vasculature	1131	CHRM3	OMIM:100100
HP:0002597	Abnormality of the vasculature	9578	CDC42BPB	OMIM:619841
HP:0002597	Abnormality of the vasculature	8942	KYNU	OMIM:617661
HP:0002597	Abnormality of the vasculature	55790	CSGALNACT1	OMIM:618870
HP:0002597	Abnormality of the vasculature	55690	PACS1	OMIM:615009
HP:0002597	Abnormality of the vasculature	55690	PACS1	ORPHA:329224
HP:0002597	Abnormality of the vasculature	9200	HACD1	OMIM:619967
HP:0002597	Abnormality of the vasculature	23384	SPECC1L	ORPHA:1519
HP:0002597	Abnormality of the vasculature	3764	KCNJ8	ORPHA:1517
HP:0002597	Abnormality of the vasculature	9723	SEMA3E	ORPHA:138
HP:0002597	Abnormality of the vasculature	5189	PEX1	OMIM:214100
HP:0002597	Abnormality of the vasculature	8726	EED	OMIM:617561
HP:0002597	Abnormality of the vasculature	203286	ANKS6	OMIM:615382
HP:0002597	Abnormality of the vasculature	22884	WDR37	OMIM:618652
HP:0002597	Abnormality of the vasculature	57178	ZMIZ1	OMIM:618659
HP:0002597	Abnormality of the vasculature	8550	MAPKAPK5	OMIM:619869
HP:0002597	Abnormality of the vasculature	5950	RBP4	OMIM:615147
HP:0002597	Abnormality of the vasculature	11193	WBP4	OMIM:620852
HP:0002597	Abnormality of the vasculature	81794	ADAMTS10	OMIM:277600
HP:0002597	Abnormality of the vasculature	81794	ADAMTS10	ORPHA:3449
HP:0002597	Abnormality of the vasculature	3476	IGBP1	ORPHA:52055
HP:0002597	Abnormality of the vasculature	3476	IGBP1	OMIM:300472
HP:0002597	Abnormality of the vasculature	51604	PIGT	OMIM:615398
HP:0002597	Abnormality of the vasculature	51604	PIGT	ORPHA:369837
HP:0002597	Abnormality of the vasculature	23126	POGZ	OMIM:616364
HP:0002597	Abnormality of the vasculature	3481	IGF2	OMIM:616489
HP:0002597	Abnormality of the vasculature	57863	CADM3	OMIM:619519
HP:0002597	Abnormality of the vasculature	1859	DYRK1A	ORPHA:464311
HP:0002597	Abnormality of the vasculature	1859	DYRK1A	OMIM:614104
HP:0002597	Abnormality of the vasculature	4247	MGAT2	ORPHA:79329
HP:0002597	Abnormality of the vasculature	7750	ZMYM2	OMIM:619522
HP:0002597	Abnormality of the vasculature	79971	WLS	OMIM:619648
HP:0002597	Abnormality of the vasculature	51341	ZBTB7A	OMIM:619769
HP:0002597	Abnormality of the vasculature	775	CACNA1C	OMIM:601005
HP:0002597	Abnormality of the vasculature	79087	ALG12	ORPHA:79324
HP:0002597	Abnormality of the vasculature	79087	ALG12	OMIM:607143
HP:0002597	Abnormality of the vasculature	51117	COQ4	OMIM:616276
HP:0002597	Abnormality of the vasculature	1523	CUX1	OMIM:618330
HP:0002597	Abnormality of the vasculature	27429	HTRA2	OMIM:617248
HP:0002597	Abnormality of the vasculature	5908	RAP1B	OMIM:620654
HP:0002597	Abnormality of the vasculature	9949	AMMECR1	OMIM:300990
HP:0002597	Abnormality of the vasculature	9949	AMMECR1	ORPHA:86818
HP:0002597	Abnormality of the vasculature	6885	MAP3K7	OMIM:617137
HP:0002597	Abnormality of the vasculature	253738	EBF3	ORPHA:96148
HP:0002597	Abnormality of the vasculature	10102	TSFM	OMIM:610505
HP:0002597	Abnormality of the vasculature	8312	AXIN1	OMIM:620558
HP:0002597	Abnormality of the vasculature	2530	FUT8	OMIM:618005
HP:0002597	Abnormality of the vasculature	93166	PRDM6	OMIM:617039
HP:0002597	Abnormality of the vasculature	400569	MED11	OMIM:620327
HP:0002597	Abnormality of the vasculature	9496	TBX4	ORPHA:261279
HP:0002597	Abnormality of the vasculature	1760	DMPK	ORPHA:589821
HP:0002597	Abnormality of the vasculature	51715	RAB23	ORPHA:65759
HP:0002597	Abnormality of the vasculature	51715	RAB23	OMIM:201000
HP:0002597	Abnormality of the vasculature	1954	MEGF8	ORPHA:65759
HP:0002597	Abnormality of the vasculature	1954	MEGF8	OMIM:614976
HP:0002597	Abnormality of the vasculature	4990	SIX6	OMIM:206900
HP:0002597	Abnormality of the vasculature	6657	SOX2	OMIM:206900
HP:0002597	Abnormality of the vasculature	6657	SOX2	ORPHA:77298
HP:0002597	Abnormality of the vasculature	1974	EIF4A2	OMIM:620455
HP:0002597	Abnormality of the vasculature	9321	TRIP11	ORPHA:166272
HP:0002597	Abnormality of the vasculature	57061	HYMAI	ORPHA:96191
HP:0002597	Abnormality of the vasculature	5325	PLAGL1	ORPHA:96191
HP:0002597	Abnormality of the vasculature	348180	CTU2	OMIM:618142
HP:0002597	Abnormality of the vasculature	26005	C2CD3	ORPHA:434179
HP:0002597	Abnormality of the vasculature	26005	C2CD3	OMIM:615948
HP:0002597	Abnormality of the vasculature	7204	TRIO	OMIM:617061
HP:0002597	Abnormality of the vasculature	4841	NONO	OMIM:300967
HP:0002597	Abnormality of the vasculature	4841	NONO	ORPHA:466791
HP:0002597	Abnormality of the vasculature	8239	USP9X	OMIM:300968
HP:0002597	Abnormality of the vasculature	8239	USP9X	ORPHA:480880
HP:0002597	Abnormality of the vasculature	6299	SALL1	ORPHA:857
HP:0002597	Abnormality of the vasculature	51339	DACT1	ORPHA:857
HP:0002597	Abnormality of the vasculature	6748	SSR4	ORPHA:370927
HP:0002597	Abnormality of the vasculature	89970	RSPRY1	ORPHA:457395
HP:0002597	Abnormality of the vasculature	23522	KAT6B	ORPHA:3047
HP:0002597	Abnormality of the vasculature	27161	AGO2	OMIM:619149
HP:0002597	Abnormality of the vasculature	8496	PPFIBP1	OMIM:620024
HP:0002597	Abnormality of the vasculature	51506	UFC1	OMIM:618076
HP:0002597	Abnormality of the vasculature	10225	CD96	OMIM:211750
HP:0002597	Abnormality of the vasculature	1889	ECE1	OMIM:613870
HP:0002597	Abnormality of the vasculature	132158	GLYCTK	OMIM:220120
HP:0002597	Abnormality of the vasculature	55148	UBR7	OMIM:619189
HP:0002597	Abnormality of the vasculature	51021	MRPS16	OMIM:610498
HP:0002597	Abnormality of the vasculature	79053	ALG8	OMIM:608104
HP:0002597	Abnormality of the vasculature	26227	PHGDH	OMIM:256520
HP:0002597	Abnormality of the vasculature	54499	TMCO1	OMIM:213980
HP:0002597	Abnormality of the vasculature	23137	SMC5	OMIM:620185
HP:0002597	Abnormality of the vasculature	79228	THOC6	ORPHA:363444
HP:0002597	Abnormality of the vasculature	79228	THOC6	OMIM:613680
HP:0002597	Abnormality of the vasculature	4094	MAF	ORPHA:1272
HP:0002597	Abnormality of the vasculature	170691	ADAMTS17	ORPHA:3449
HP:0002597	Abnormality of the vasculature	4053	LTBP2	ORPHA:3449
HP:0002597	Abnormality of the vasculature	2146	EZH2	OMIM:277590
HP:0002597	Abnormality of the vasculature	5824	PEX19	OMIM:614886
HP:0002597	Abnormality of the vasculature	8195	MKKS	ORPHA:2473
HP:0002597	Abnormality of the vasculature	11020	IFT27	OMIM:615996
HP:0002597	Abnormality of the vasculature	85358	SHANK3	OMIM:606232
HP:0002597	Abnormality of the vasculature	1837	DTNA	OMIM:604169
HP:0002597	Abnormality of the vasculature	113179	ADAT3	ORPHA:363528
HP:0002597	Abnormality of the vasculature	4297	KMT2A	OMIM:605130
HP:0002597	Abnormality of the vasculature	388753	COA6	OMIM:616501
HP:0002597	Abnormality of the vasculature	6659	SOX4	ORPHA:1465
HP:0002597	Abnormality of the vasculature	8289	ARID1A	ORPHA:1465
HP:0002597	Abnormality of the vasculature	5977	DPF2	ORPHA:1465
HP:0002597	Abnormality of the vasculature	6601	SMARCC2	ORPHA:1465
HP:0002597	Abnormality of the vasculature	6602	SMARCD1	ORPHA:1465
HP:0002597	Abnormality of the vasculature	196528	ARID2	ORPHA:1465
HP:0002597	Abnormality of the vasculature	6664	SOX11	ORPHA:1465
HP:0002597	Abnormality of the vasculature	51008	ASCC1	OMIM:616867
HP:0002597	Abnormality of the vasculature	9325	TRIP4	OMIM:616866
HP:0002597	Abnormality of the vasculature	6638	SNRPN	ORPHA:177907
HP:0002597	Abnormality of the vasculature	59336	PRDM13	OMIM:619909
HP:0002597	Abnormality of the vasculature	6628	SNRPB	OMIM:117650
HP:0002597	Abnormality of the vasculature	23630	KCNE5	ORPHA:86818
HP:0002597	Abnormality of the vasculature	2182	ACSL4	ORPHA:86818
HP:0002597	Abnormality of the vasculature	7291	TWIST1	OMIM:617746
HP:0002597	Abnormality of the vasculature	93649	MYOCD	OMIM:618719
HP:0002597	Abnormality of the vasculature	5331	PLCB3	OMIM:618961
HP:0002597	Abnormality of the vasculature	153241	CEP120	OMIM:616300
HP:0002597	Abnormality of the vasculature	5879	RAC1	OMIM:617751
HP:0002597	Abnormality of the vasculature	5879	RAC1	ORPHA:500159
HP:0002597	Abnormality of the vasculature	5718	PSMD12	OMIM:617516
HP:0002597	Abnormality of the vasculature	55191	NADSYN1	OMIM:618845
HP:0002597	Abnormality of the vasculature	9757	KMT2B	OMIM:619934
HP:0002597	Abnormality of the vasculature	84148	KAT8	OMIM:618974
HP:0002597	Abnormality of the vasculature	83871	RAB34	OMIM:620718
HP:0002597	Abnormality of the vasculature	284086	NEK8	OMIM:615415
HP:0002597	Abnormality of the vasculature	23389	MED13L	OMIM:616789
HP:0002597	Abnormality of the vasculature	2218	FKTN	OMIM:253800
HP:0002597	Abnormality of the vasculature	54870	QRICH1	OMIM:617982
HP:0002597	Abnormality of the vasculature	55997	CFC1	OMIM:605376
HP:0002597	Abnormality of the vasculature	63036	CELA2A	OMIM:618620
HP:0002597	Abnormality of the vasculature	336	APOA2	OMIM:143890
HP:0002597	Abnormality of the vasculature	2053	EPHX2	OMIM:143890
HP:0002597	Abnormality of the vasculature	10842	PPP1R17	OMIM:143890
HP:0002597	Abnormality of the vasculature	2690	GHR	OMIM:143890
HP:0002597	Abnormality of the vasculature	2099	ESR1	ORPHA:785
HP:0002597	Abnormality of the vasculature	57592	ZNF687	OMIM:616833
HP:0002597	Abnormality of the vasculature	23556	PIGN	ORPHA:2059
HP:0002597	Abnormality of the vasculature	9759	HDAC4	ORPHA:1001
HP:0002597	Abnormality of the vasculature	64359	NXN	ORPHA:1507
HP:0002597	Abnormality of the vasculature	4920	ROR2	ORPHA:1507
HP:0002597	Abnormality of the vasculature	9184	BUB3	ORPHA:1052
HP:0002597	Abnormality of the vasculature	699	BUB1	ORPHA:1052
HP:0002597	Abnormality of the vasculature	9702	CEP57	ORPHA:1052
HP:0002597	Abnormality of the vasculature	701	BUB1B	ORPHA:1052
HP:0002597	Abnormality of the vasculature	2737	GLI3	ORPHA:672
HP:0002597	Abnormality of the vasculature	1024	CDK8	OMIM:618748
HP:0002597	Abnormality of the vasculature	132	ADK	OMIM:614300
HP:0002597	Abnormality of the vasculature	79903	NAA60	OMIM:620786
HP:0002597	Abnormality of the vasculature	5927	KDM5A	OMIM:620820
HP:0002597	Abnormality of the vasculature	79813	EHMT1	ORPHA:96147
HP:0002597	Abnormality of the vasculature	10992	SF3B2	OMIM:164210
HP:0002597	Abnormality of the vasculature	7707	ZNF148	OMIM:617260
HP:0002597	Abnormality of the vasculature	10847	SRCAP	OMIM:136140
HP:0002597	Abnormality of the vasculature	10847	SRCAP	ORPHA:2044
HP:0002597	Abnormality of the vasculature	89910	UBE3B	OMIM:244450
HP:0002597	Abnormality of the vasculature	55784	MCTP2	ORPHA:1596
HP:0002597	Abnormality of the vasculature	5053	PAH	ORPHA:2209
HP:0002597	Abnormality of the vasculature	10735	STAG2	OMIM:301022
HP:0002597	Abnormality of the vasculature	146862	UNC45B	OMIM:619178
HP:0002597	Abnormality of the vasculature	1108	CHD4	OMIM:617159
HP:0002597	Abnormality of the vasculature	7026	NR2F2	OMIM:615779
HP:0002597	Abnormality of the vasculature	51057	WDPCP	OMIM:217085
HP:0002597	Abnormality of the vasculature	1000	CDH2	OMIM:618929
HP:0002597	Abnormality of the vasculature	4313	MMP2	ORPHA:371428
HP:0002597	Abnormality of the vasculature	4323	MMP14	ORPHA:371428
HP:0002597	Abnormality of the vasculature	4212	MEIS2	OMIM:600987
HP:0002597	Abnormality of the vasculature	8802	SUCLG1	ORPHA:17
HP:0002597	Abnormality of the vasculature	1822	ATN1	OMIM:618494
HP:0002597	Abnormality of the vasculature	139285	AMER1	ORPHA:2780
HP:0002597	Abnormality of the vasculature	55644	OSGEP	OMIM:617729
HP:0002597	Abnormality of the vasculature	5826	ABCD4	OMIM:614857
HP:0002597	Abnormality of the vasculature	2313	FLI1	ORPHA:2308
HP:0002597	Abnormality of the vasculature	10664	CTCF	ORPHA:363611
HP:0002597	Abnormality of the vasculature	10664	CTCF	OMIM:615502
HP:0002597	Abnormality of the vasculature	65250	CPLANE1	OMIM:277170
HP:0002597	Abnormality of the vasculature	83475	DOHH	OMIM:620066
HP:0002597	Abnormality of the vasculature	6491	STIL	ORPHA:280195
HP:0002597	Abnormality of the vasculature	1654	DDX3X	ORPHA:3338
HP:0002597	Abnormality of the vasculature	140628	GATA5	ORPHA:402075
HP:0002597	Abnormality of the vasculature	51322	WAC	ORPHA:284169
HP:0002597	Abnormality of the vasculature	23483	TGDS	OMIM:616145
HP:0002597	Abnormality of the vasculature	5236	PGM1	OMIM:614921
HP:0002597	Abnormality of the vasculature	6223	RPS19	OMIM:105650
HP:0002597	Abnormality of the vasculature	6223	RPS19	ORPHA:124
HP:0002597	Abnormality of the vasculature	6138	RPL15	ORPHA:124
HP:0002597	Abnormality of the vasculature	6224	RPS20	ORPHA:124
HP:0002597	Abnormality of the vasculature	6165	RPL35A	ORPHA:124
HP:0002597	Abnormality of the vasculature	6132	RPL8	ORPHA:124
HP:0002597	Abnormality of the vasculature	6232	RPS27	ORPHA:124
HP:0002597	Abnormality of the vasculature	6160	RPL31	ORPHA:124
HP:0002597	Abnormality of the vasculature	6201	RPS7	ORPHA:124
HP:0002597	Abnormality of the vasculature	6155	RPL27	ORPHA:124
HP:0002597	Abnormality of the vasculature	6234	RPS28	ORPHA:124
HP:0002597	Abnormality of the vasculature	6135	RPL11	ORPHA:124
HP:0002597	Abnormality of the vasculature	6229	RPS24	ORPHA:124
HP:0002597	Abnormality of the vasculature	6125	RPL5	ORPHA:124
HP:0002597	Abnormality of the vasculature	6204	RPS10	ORPHA:124
HP:0002597	Abnormality of the vasculature	6133	RPL9	ORPHA:124
HP:0002597	Abnormality of the vasculature	6231	RPS26	ORPHA:124
HP:0002597	Abnormality of the vasculature	11224	RPL35	ORPHA:124
HP:0002597	Abnormality of the vasculature	6218	RPS17	ORPHA:124
HP:0002597	Abnormality of the vasculature	6154	RPL26	ORPHA:124
HP:0002597	Abnormality of the vasculature	90121	TSR2	ORPHA:124
HP:0002597	Abnormality of the vasculature	6141	RPL18	ORPHA:124
HP:0002597	Abnormality of the vasculature	6235	RPS29	ORPHA:124
HP:0002597	Abnormality of the vasculature	6595	SMARCA2	OMIM:601358
HP:0002597	Abnormality of the vasculature	8295	TRRAP	OMIM:618454
HP:0002597	Abnormality of the vasculature	4281	MID1	ORPHA:2745
HP:0002597	Abnormality of the vasculature	6736	SRY	ORPHA:1772
HP:0002597	Abnormality of the vasculature	285590	SH3PXD2B	OMIM:249420
HP:0002597	Abnormality of the vasculature	23007	PLCH1	OMIM:619895
HP:0002597	Abnormality of the vasculature	9451	EIF2AK3	ORPHA:1667
HP:0002597	Abnormality of the vasculature	4609	MYC	ORPHA:543
HP:0002597	Abnormality of the vasculature	7490	WT1	ORPHA:3097
HP:0002597	Abnormality of the vasculature	8091	HMGA2	ORPHA:94063
HP:0002597	Abnormality of the vasculature	23592	LEMD3	ORPHA:94063
HP:0002597	Abnormality of the vasculature	1497	CTNS	OMIM:219800
HP:0002597	Abnormality of the vasculature	7293	TNFRSF4	OMIM:615593
HP:0002597	Abnormality of the vasculature	5994	RFXAP	OMIM:620817
HP:0002597	Abnormality of the vasculature	3145	HMBS	OMIM:620704
HP:0002597	Abnormality of the vasculature	8573	CASK	OMIM:300908
HP:0002597	Abnormality of the vasculature	2539	G6PD	OMIM:300908
HP:0002597	Abnormality of the vasculature	55240	STEAP3	OMIM:615234
HP:0002597	Abnormality of the vasculature	148738	HJV	OMIM:602390
HP:0002597	Abnormality of the vasculature	80270	HSD3B7	ORPHA:79301
HP:0002597	Abnormality of the vasculature	80270	HSD3B7	OMIM:607765
HP:0002597	Abnormality of the vasculature	84433	CARD11	OMIM:616452
HP:0002597	Abnormality of the vasculature	4689	NCF4	ORPHA:379
HP:0002597	Abnormality of the vasculature	60561	RINT1	OMIM:618641
HP:0002597	Abnormality of the vasculature	6573	SLC19A1	OMIM:620603
HP:0002597	Abnormality of the vasculature	1441	CSF3R	OMIM:162830
HP:0002597	Abnormality of the vasculature	2035	EPB41	ORPHA:288
HP:0002597	Abnormality of the vasculature	2035	EPB41	OMIM:611804
HP:0002597	Abnormality of the vasculature	2995	GYPC	ORPHA:288
HP:0002597	Abnormality of the vasculature	6710	SPTB	ORPHA:288
HP:0002597	Abnormality of the vasculature	6710	SPTB	ORPHA:822
HP:0002597	Abnormality of the vasculature	6710	SPTB	OMIM:616649
HP:0002597	Abnormality of the vasculature	6708	SPTA1	ORPHA:288
HP:0002597	Abnormality of the vasculature	6708	SPTA1	ORPHA:822
HP:0002597	Abnormality of the vasculature	57231	SNX14	OMIM:616354
HP:0002597	Abnormality of the vasculature	1371	CPOX	OMIM:618892
HP:0002597	Abnormality of the vasculature	1371	CPOX	OMIM:121300
HP:0002597	Abnormality of the vasculature	80739	MPIG6B	OMIM:617441
HP:0002597	Abnormality of the vasculature	4645	MYO5B	OMIM:619868
HP:0002597	Abnormality of the vasculature	10661	KLF1	ORPHA:46532
HP:0002597	Abnormality of the vasculature	10661	KLF1	ORPHA:251380
HP:0002597	Abnormality of the vasculature	10661	KLF1	OMIM:613673
HP:0002597	Abnormality of the vasculature	3047	HBG1	ORPHA:46532
HP:0002597	Abnormality of the vasculature	3047	HBG1	ORPHA:251380
HP:0002597	Abnormality of the vasculature	3048	HBG2	ORPHA:46532
HP:0002597	Abnormality of the vasculature	3048	HBG2	ORPHA:251380
HP:0002597	Abnormality of the vasculature	1594	CYP27B1	ORPHA:289157
HP:0002597	Abnormality of the vasculature	120227	CYP2R1	ORPHA:289157
HP:0002597	Abnormality of the vasculature	286	ANK1	ORPHA:251066
HP:0002597	Abnormality of the vasculature	286	ANK1	OMIM:182900
HP:0002597	Abnormality of the vasculature	286	ANK1	ORPHA:822
HP:0002597	Abnormality of the vasculature	285362	SUMF1	OMIM:272200
HP:0002597	Abnormality of the vasculature	285362	SUMF1	ORPHA:585
HP:0002597	Abnormality of the vasculature	5244	ABCB4	OMIM:602347
HP:0002597	Abnormality of the vasculature	11311	VPS45	OMIM:615285
HP:0002597	Abnormality of the vasculature	2683	B4GALT1	ORPHA:79332
HP:0002597	Abnormality of the vasculature	57104	PNPLA2	OMIM:610717
HP:0002597	Abnormality of the vasculature	57104	PNPLA2	ORPHA:565612
HP:0002597	Abnormality of the vasculature	2239	GPC4	ORPHA:373
HP:0002597	Abnormality of the vasculature	2239	GPC4	OMIM:312870
HP:0002597	Abnormality of the vasculature	54532	USP53	OMIM:619658
HP:0002597	Abnormality of the vasculature	2184	FAH	OMIM:276700
HP:0002597	Abnormality of the vasculature	2184	FAH	ORPHA:882
HP:0002597	Abnormality of the vasculature	5256	PHKA2	ORPHA:264580
HP:0002597	Abnormality of the vasculature	5256	PHKA2	OMIM:306000
HP:0002597	Abnormality of the vasculature	5261	PHKG2	ORPHA:264580
HP:0002597	Abnormality of the vasculature	5261	PHKG2	OMIM:613027
HP:0002597	Abnormality of the vasculature	846	CASR	OMIM:239200
HP:0002597	Abnormality of the vasculature	846	CASR	ORPHA:417
HP:0002597	Abnormality of the vasculature	65992	DDRGK1	OMIM:602557
HP:0002597	Abnormality of the vasculature	6448	SGSH	OMIM:252900
HP:0002597	Abnormality of the vasculature	22806	IKZF3	OMIM:619437
HP:0002597	Abnormality of the vasculature	9842	PLEKHM1	OMIM:618107
HP:0002597	Abnormality of the vasculature	6916	TBXAS1	ORPHA:1802
HP:0002597	Abnormality of the vasculature	23451	SF3B1	ORPHA:75564
HP:0002597	Abnormality of the vasculature	53335	BCL11A	ORPHA:251380
HP:0002597	Abnormality of the vasculature	7372	UMPS	ORPHA:30
HP:0002597	Abnormality of the vasculature	22861	NLRP1	OMIM:617388
HP:0002597	Abnormality of the vasculature	537	ATP6AP1	OMIM:300972
HP:0002597	Abnormality of the vasculature	4125	MAN2B1	OMIM:248500
HP:0002597	Abnormality of the vasculature	3756	KCNH1	OMIM:135500
HP:0002597	Abnormality of the vasculature	3756	KCNH1	ORPHA:3473
HP:0002597	Abnormality of the vasculature	3643	INSR	OMIM:246200
HP:0002597	Abnormality of the vasculature	6718	AKR1D1	OMIM:235555
HP:0002597	Abnormality of the vasculature	10092	ARPC5	OMIM:620565
HP:0002597	Abnormality of the vasculature	4864	NPC1	OMIM:257220
HP:0002597	Abnormality of the vasculature	212	ALAS2	ORPHA:75563
HP:0002597	Abnormality of the vasculature	6007	RHD	OMIM:619462
HP:0002597	Abnormality of the vasculature	8883	NAE1	OMIM:620210
HP:0002597	Abnormality of the vasculature	84701	COX4I2	OMIM:612714
HP:0002597	Abnormality of the vasculature	8943	AP3D1	OMIM:617050
HP:0002597	Abnormality of the vasculature	57003	CCDC47	OMIM:618268
HP:0002597	Abnormality of the vasculature	9420	CYP7B1	OMIM:613812
HP:0002597	Abnormality of the vasculature	84868	HAVCR2	OMIM:618398
HP:0002597	Abnormality of the vasculature	7504	XK	OMIM:300842
HP:0002597	Abnormality of the vasculature	60468	BACH2	OMIM:618394
HP:0002597	Abnormality of the vasculature	226	ALDOA	OMIM:611881
HP:0002597	Abnormality of the vasculature	3557	IL1RN	OMIM:612852
HP:0002597	Abnormality of the vasculature	2799	GNS	OMIM:252940
HP:0002597	Abnormality of the vasculature	5264	PHYH	ORPHA:773
HP:0002597	Abnormality of the vasculature	5191	PEX7	ORPHA:773
HP:0002597	Abnormality of the vasculature	4938	OAS1	OMIM:618042
HP:0002597	Abnormality of the vasculature	3295	HSD17B4	OMIM:261515
HP:0002597	Abnormality of the vasculature	5313	PKLR	ORPHA:766
HP:0002597	Abnormality of the vasculature	5313	PKLR	OMIM:266200
HP:0002597	Abnormality of the vasculature	51626	DYNC2LI1	OMIM:617088
HP:0002597	Abnormality of the vasculature	5257	PHKB	OMIM:261750
HP:0002597	Abnormality of the vasculature	5257	PHKB	ORPHA:79240
HP:0002597	Abnormality of the vasculature	146059	CDAN1	OMIM:224120
HP:0002597	Abnormality of the vasculature	4669	NAGLU	OMIM:252920
HP:0002597	Abnormality of the vasculature	26276	VPS33B	OMIM:620010
HP:0002597	Abnormality of the vasculature	7403	KDM6A	OMIM:147920
HP:0002597	Abnormality of the vasculature	57539	WDR35	OMIM:613610
HP:0002597	Abnormality of the vasculature	2038	EPB42	ORPHA:822
HP:0002597	Abnormality of the vasculature	2038	EPB42	OMIM:612690
HP:0002597	Abnormality of the vasculature	1352	COX10	OMIM:619046
HP:0002597	Abnormality of the vasculature	3604	TNFRSF9	OMIM:620282
HP:0002597	Abnormality of the vasculature	8647	ABCB11	OMIM:601847
HP:0002597	Abnormality of the vasculature	8792	TNFRSF11A	OMIM:612301
HP:0002597	Abnormality of the vasculature	8546	AP3B1	OMIM:608233
HP:0002597	Abnormality of the vasculature	23230	VPS13A	ORPHA:2388
HP:0002597	Abnormality of the vasculature	3782	KCNN3	ORPHA:3473
HP:0002597	Abnormality of the vasculature	4853	NOTCH2	ORPHA:955
HP:0002597	Abnormality of the vasculature	5828	PEX2	OMIM:614866
HP:0002597	Abnormality of the vasculature	3662	IRF4	ORPHA:3452
HP:0002597	Abnormality of the vasculature	50628	GEMIN4	OMIM:617913
HP:0002597	Abnormality of the vasculature	57817	HAMP	OMIM:613313
HP:0002597	Abnormality of the vasculature	84317	CCDC115	OMIM:616828
HP:0002597	Abnormality of the vasculature	28962	OSTM1	OMIM:259720
HP:0002597	Abnormality of the vasculature	57410	SCYL1	OMIM:616719
HP:0002597	Abnormality of the vasculature	219285	SAMD9L	ORPHA:2585
HP:0002597	Abnormality of the vasculature	56052	ALG1	OMIM:608540
HP:0002597	Abnormality of the vasculature	91949	COG7	OMIM:608779
HP:0002597	Abnormality of the vasculature	7167	TPI1	OMIM:615512
HP:0002597	Abnormality of the vasculature	84529	CDIN1	OMIM:615631
HP:0002597	Abnormality of the vasculature	79848	CSPP1	OMIM:615636
HP:0002597	Abnormality of the vasculature	6513	SLC2A1	OMIM:612126
HP:0002597	Abnormality of the vasculature	6513	SLC2A1	OMIM:608885
HP:0002597	Abnormality of the vasculature	11133	KPTN	OMIM:615637
HP:0002597	Abnormality of the vasculature	5156	PDGFRA	OMIM:607685
HP:0002597	Abnormality of the vasculature	411	ARSB	OMIM:253200
HP:0002597	Abnormality of the vasculature	669	BPGM	OMIM:222800
HP:0002597	Abnormality of the vasculature	9663	LPIN2	ORPHA:77297
HP:0002597	Abnormality of the vasculature	51218	GLRX5	OMIM:616860
HP:0002597	Abnormality of the vasculature	2821	GPI	OMIM:613470
HP:0002597	Abnormality of the vasculature	4358	MPV17	OMIM:256810
HP:0002597	Abnormality of the vasculature	6578	SLCO2A1	ORPHA:2796
HP:0002597	Abnormality of the vasculature	9056	SLC7A7	OMIM:222700
HP:0002597	Abnormality of the vasculature	57511	COG6	OMIM:614576
HP:0002597	Abnormality of the vasculature	2328	FMO3	OMIM:602079
HP:0002597	Abnormality of the vasculature	5265	SERPINA1	OMIM:613490
HP:0002597	Abnormality of the vasculature	10367	MICU1	OMIM:615673
HP:0002597	Abnormality of the vasculature	5205	ATP8B1	OMIM:211600
HP:0002597	Abnormality of the vasculature	2065	ERBB3	OMIM:133180
HP:0002597	Abnormality of the vasculature	7040	TGFB1	ORPHA:1328
HP:0002597	Abnormality of the vasculature	100506658	OCLN	OMIM:251290
HP:0002597	Abnormality of the vasculature	10577	NPC2	OMIM:607625
HP:0002597	Abnormality of the vasculature	2819	GPD1	OMIM:614480
HP:0002597	Abnormality of the vasculature	139818	DOCK11	OMIM:301109
HP:0002597	Abnormality of the vasculature	26503	SLC17A5	OMIM:269920
HP:0002597	Abnormality of the vasculature	4724	NDUFS4	OMIM:252010
HP:0002597	Abnormality of the vasculature	139886	SPIN4	OMIM:301114
HP:0002597	Abnormality of the vasculature	10464	PIBF1	OMIM:617767
HP:0002597	Abnormality of the vasculature	3636	INPPL1	ORPHA:2746
HP:0002597	Abnormality of the vasculature	55329	MNS1	OMIM:618948
HP:0002597	Abnormality of the vasculature	90416	CCDC32	OMIM:619123
HP:0002597	Abnormality of the vasculature	3921	RPSA	OMIM:271400
HP:0002597	Abnormality of the vasculature	63901	FAM111A	OMIM:602361
HP:0002597	Abnormality of the vasculature	84314	TMEM107	ORPHA:564
HP:0002597	Abnormality of the vasculature	26123	TCTN3	ORPHA:564
HP:0002597	Abnormality of the vasculature	79867	TCTN2	ORPHA:564
HP:0002597	Abnormality of the vasculature	80776	B9D2	ORPHA:564
HP:0002597	Abnormality of the vasculature	79600	TCTN1	ORPHA:564
HP:0002597	Abnormality of the vasculature	80184	CEP290	ORPHA:564
HP:0002597	Abnormality of the vasculature	51259	TMEM216	ORPHA:564
HP:0002597	Abnormality of the vasculature	79583	TMEM231	ORPHA:564
HP:0002597	Abnormality of the vasculature	79770	TXNDC15	ORPHA:564
HP:0002597	Abnormality of the vasculature	27077	B9D1	ORPHA:564
HP:0002597	Abnormality of the vasculature	55012	PPP2R3C	OMIM:618419
HP:0002597	Abnormality of the vasculature	55770	EXOC2	OMIM:619306
HP:0002597	Abnormality of the vasculature	219844	HYLS1	OMIM:236680
HP:0002597	Abnormality of the vasculature	25790	CFAP45	OMIM:619608
HP:0002597	Abnormality of the vasculature	9896	FIG4	ORPHA:3472
HP:0002597	Abnormality of the vasculature	55697	VAC14	ORPHA:3472
HP:0002597	Abnormality of the vasculature	5456	POU3F4	ORPHA:1435
HP:0002597	Abnormality of the vasculature	2165	F13B	ORPHA:331
HP:0002597	Abnormality of the vasculature	2162	F13A1	ORPHA:331
HP:0002597	Abnormality of the vasculature	10559	SLC35A1	ORPHA:238459
HP:0002597	Abnormality of the vasculature	10559	SLC35A1	OMIM:603585
HP:0002597	Abnormality of the vasculature	5054	SERPINE1	ORPHA:465
HP:0002597	Abnormality of the vasculature	2048	EPHB2	OMIM:618462
HP:0002597	Abnormality of the vasculature	2157	F8	ORPHA:169805
HP:0002597	Abnormality of the vasculature	113189	CHST14	ORPHA:2953
HP:0002597	Abnormality of the vasculature	29940	DSE	ORPHA:2953
HP:0002597	Abnormality of the vasculature	5155	PDGFB	ORPHA:1980
HP:0002597	Abnormality of the vasculature	9213	XPR1	ORPHA:1980
HP:0002597	Abnormality of the vasculature	5159	PDGFRB	ORPHA:1980
HP:0002597	Abnormality of the vasculature	57462	MYORG	ORPHA:1980
HP:0002597	Abnormality of the vasculature	6575	SLC20A2	ORPHA:1980
HP:0002597	Abnormality of the vasculature	58494	JAM2	ORPHA:1980
HP:0002597	Abnormality of the vasculature	5627	PROS1	ORPHA:743
HP:0002597	Abnormality of the vasculature	79717	PPCS	OMIM:618189
HP:0002597	Abnormality of the vasculature	498	ATP5F1A	OMIM:616045
HP:0002597	Abnormality of the vasculature	81857	MED25	OMIM:616449
HP:0002597	Abnormality of the vasculature	81857	MED25	ORPHA:464738
HP:0002597	Abnormality of the vasculature	3875	KRT18	OMIM:215600
HP:0002597	Abnormality of the vasculature	90459	ERI1	OMIM:620663
HP:0002597	Abnormality of the vasculature	727897	MUC5B	OMIM:178500
HP:0002597	Abnormality of the vasculature	6440	SFTPC	OMIM:178500
HP:0002597	Abnormality of the vasculature	6440	SFTPC	OMIM:610913
HP:0002597	Abnormality of the vasculature	729238	SFTPA2	OMIM:178500
HP:0002597	Abnormality of the vasculature	51601	LIPT1	OMIM:616299
HP:0002597	Abnormality of the vasculature	3908	LAMA2	ORPHA:258
HP:0002597	Abnormality of the vasculature	9382	COG1	ORPHA:263508
HP:0002597	Abnormality of the vasculature	1340	COX6B1	OMIM:619051
HP:0002597	Abnormality of the vasculature	1351	COX8A	OMIM:619059
HP:0002597	Abnormality of the vasculature	79572	ATP13A3	OMIM:265400
HP:0002597	Abnormality of the vasculature	9469	CHST3	OMIM:143095
HP:0002597	Abnormality of the vasculature	7080	NKX2-1	ORPHA:209905
HP:0002597	Abnormality of the vasculature	55750	AGK	OMIM:212350
HP:0002597	Abnormality of the vasculature	9377	COX5A	OMIM:619064
HP:0002597	Abnormality of the vasculature	7414	VCL	OMIM:613255
HP:0002597	Abnormality of the vasculature	9719	ADAMTSL2	OMIM:231050
HP:0002597	Abnormality of the vasculature	4716	NDUFB10	OMIM:619003
HP:0002597	Abnormality of the vasculature	8292	COLQ	ORPHA:98915
HP:0002597	Abnormality of the vasculature	6123	RPL3L	OMIM:619371
HP:0002597	Abnormality of the vasculature	21	ABCA3	ORPHA:217563
HP:0002597	Abnormality of the vasculature	79645	CLXN	OMIM:620642
HP:0002597	Abnormality of the vasculature	27247	NFU1	OMIM:605711
HP:0002597	Abnormality of the vasculature	54938	SARS2	OMIM:613845
HP:0002597	Abnormality of the vasculature	389827	MYMK	OMIM:254940
HP:0002597	Abnormality of the vasculature	5052	PRDX1	OMIM:277400
HP:0002597	Abnormality of the vasculature	6651	SON	ORPHA:500150
HP:0002597	Abnormality of the vasculature	79184	BRCC3	ORPHA:280679
HP:0002597	Abnormality of the vasculature	1798	DPAGT1	ORPHA:86309
HP:0002597	Abnormality of the vasculature	65062	TMEM237	OMIM:614424
HP:0002597	Abnormality of the vasculature	249	ALPL	OMIM:241500
HP:0002597	Abnormality of the vasculature	1584	CYP11B1	ORPHA:90795
HP:0002597	Abnormality of the vasculature	1584	CYP11B1	ORPHA:403
HP:0002597	Abnormality of the vasculature	5373	PMM2	ORPHA:79318
HP:0002597	Abnormality of the vasculature	1284	COL4A2	OMIM:614483
HP:0002597	Abnormality of the vasculature	1181	CLCN2	ORPHA:404
HP:0002597	Abnormality of the vasculature	1585	CYP11B2	ORPHA:403
HP:0002597	Abnormality of the vasculature	776	CACNA1D	ORPHA:369929
HP:0002597	Abnormality of the vasculature	25942	SIN3A	OMIM:613406
HP:0002597	Abnormality of the vasculature	3762	KCNJ5	ORPHA:251274
HP:0002597	Abnormality of the vasculature	7049	TGFBR3	ORPHA:231160
HP:0002597	Abnormality of the vasculature	83854	ANGPTL6	ORPHA:231160
HP:0002597	Abnormality of the vasculature	90952	ESAM	OMIM:620371
HP:0002597	Abnormality of the vasculature	6005	RHAG	OMIM:185000
HP:0002597	Abnormality of the vasculature	7056	THBD	OMIM:614486
HP:0002597	Abnormality of the vasculature	5354	PLP1	ORPHA:99015
HP:0002597	Abnormality of the vasculature	7066	THPO	ORPHA:71493
HP:0002597	Abnormality of the vasculature	71	ACTG1	ORPHA:2995
HP:0002597	Abnormality of the vasculature	60	ACTB	ORPHA:2995
HP:0002597	Abnormality of the vasculature	5621	PRNP	ORPHA:282166
HP:0002597	Abnormality of the vasculature	4702	NDUFA8	OMIM:619272
HP:0002597	Abnormality of the vasculature	4511	MT-TC	OMIM:540000
HP:0002597	Abnormality of the vasculature	4577	MT-TV	OMIM:540000
HP:0002597	Abnormality of the vasculature	4566	MT-TK	OMIM:540000
HP:0002597	Abnormality of the vasculature	7466	WFS1	OMIM:222300
HP:0002597	Abnormality of the vasculature	3980	LIG3	OMIM:619780
HP:0002597	Abnormality of the vasculature	54344	DPM3	ORPHA:263494
HP:0002597	Abnormality of the vasculature	91869	RFT1	ORPHA:244310
HP:0002597	Abnormality of the vasculature	23600	AMACR	ORPHA:79095
HP:0002597	Abnormality of the vasculature	129607	CMPK2	OMIM:621018
HP:0002597	Abnormality of the vasculature	10128	LRPPRC	ORPHA:70472
HP:0002597	Abnormality of the vasculature	3569	IL6	OMIM:108010
HP:0002597	Abnormality of the vasculature	55072	RNF31	OMIM:620632
HP:0002597	Abnormality of the vasculature	3043	HBB	ORPHA:232
HP:0002597	Abnormality of the vasculature	7010	TEK	ORPHA:1059
HP:0002597	Abnormality of the vasculature	4010	LMX1B	ORPHA:2614
HP:0002597	Abnormality of the vasculature	4000	LMNA	ORPHA:1662
HP:0002597	Abnormality of the vasculature	10269	ZMPSTE24	ORPHA:1662
HP:0002597	Abnormality of the vasculature	5728	PTEN	OMIM:158350
HP:0002597	Abnormality of the vasculature	6571	SLC18A2	ORPHA:352649
HP:0002597	Abnormality of the vasculature	2332	FMR1	ORPHA:449291
HP:0002597	Abnormality of the vasculature	7169	TPM2	ORPHA:171881
HP:0002597	Abnormality of the vasculature	7170	TPM3	ORPHA:171881
HP:0002597	Abnormality of the vasculature	26229	B3GAT3	OMIM:245600
HP:0002597	Abnormality of the vasculature	4883	NPR3	OMIM:619543
HP:0002597	Abnormality of the vasculature	79576	NKAP	OMIM:301039
HP:0002597	Abnormality of the vasculature	54538	ROBO4	OMIM:618496
HP:0002597	Abnormality of the vasculature	8425	LTBP4	OMIM:613177
HP:0002597	Abnormality of the vasculature	57167	SALL4	OMIM:607323
HP:0002597	Abnormality of the vasculature	11231	SEC63	ORPHA:2924
HP:0002597	Abnormality of the vasculature	5589	PRKCSH	ORPHA:2924
HP:0002597	Abnormality of the vasculature	4052	LTBP1	ORPHA:90349
HP:0002597	Abnormality of the vasculature	30008	EFEMP2	ORPHA:90349
HP:0002597	Abnormality of the vasculature	10516	FBLN5	ORPHA:90349
HP:0002597	Abnormality of the vasculature	3593	IL12B	ORPHA:3287
HP:0002597	Abnormality of the vasculature	6945	MLX	ORPHA:3287
HP:0002597	Abnormality of the vasculature	3110	MNX1	OMIM:176450
HP:0002597	Abnormality of the vasculature	286204	CRB2	OMIM:219730
HP:0002597	Abnormality of the vasculature	5087	PBX1	OMIM:617641
HP:0002597	Abnormality of the vasculature	51025	PAM16	OMIM:613320
HP:0002597	Abnormality of the vasculature	4878	NPPA	OMIM:615745
HP:0002597	Abnormality of the vasculature	5193	PEX12	OMIM:614859
HP:0002597	Abnormality of the vasculature	9158	FIBP	ORPHA:500095
HP:0002597	Abnormality of the vasculature	9158	FIBP	OMIM:617107
HP:0002597	Abnormality of the vasculature	3798	KIF5A	ORPHA:100991
HP:0002597	Abnormality of the vasculature	23395	LARS2	OMIM:617021
HP:0002597	Abnormality of the vasculature	285	ANGPT2	ORPHA:79452
HP:0002597	Abnormality of the vasculature	57165	GJC2	ORPHA:79452
HP:0002597	Abnormality of the vasculature	11146	GLMN	ORPHA:83454
HP:0002597	Abnormality of the vasculature	8974	P4HA2	ORPHA:397
HP:0002597	Abnormality of the vasculature	90268	OTULIN	OMIM:617099
HP:0002597	Abnormality of the vasculature	3426	CFI	OMIM:610984
HP:0002597	Abnormality of the vasculature	9051	PSTPIP1	OMIM:601979
HP:0002597	Abnormality of the vasculature	4068	SH2D1A	OMIM:308240
HP:0002597	Abnormality of the vasculature	331	XIAP	OMIM:308240
HP:0002597	Abnormality of the vasculature	3586	IL10	OMIM:180300
HP:0002597	Abnormality of the vasculature	3586	IL10	ORPHA:117
HP:0002597	Abnormality of the vasculature	6583	SLC22A4	OMIM:180300
HP:0002597	Abnormality of the vasculature	4261	CIITA	OMIM:180300
HP:0002597	Abnormality of the vasculature	51744	CD244	OMIM:180300
HP:0002597	Abnormality of the vasculature	4795	NFKBIL1	OMIM:180300
HP:0002597	Abnormality of the vasculature	149233	IL23R	ORPHA:117
HP:0002597	Abnormality of the vasculature	6775	STAT4	ORPHA:117
HP:0002597	Abnormality of the vasculature	1230	CCR1	ORPHA:117
HP:0002597	Abnormality of the vasculature	101928376	IL12A-AS1	ORPHA:117
HP:0002597	Abnormality of the vasculature	7099	TLR4	ORPHA:117
HP:0002597	Abnormality of the vasculature	3459	IFNGR1	ORPHA:117
HP:0002597	Abnormality of the vasculature	337867	UBAC2	ORPHA:117
HP:0002597	Abnormality of the vasculature	51752	ERAP1	ORPHA:117
HP:0002597	Abnormality of the vasculature	8302	KLRC4	ORPHA:117
HP:0002597	Abnormality of the vasculature	847	CAT	ORPHA:926
HP:0002597	Abnormality of the vasculature	1604	CD55	OMIM:226300
HP:0002597	Abnormality of the vasculature	64170	CARD9	OMIM:212050
HP:0002597	Abnormality of the vasculature	3071	NCKAP1L	OMIM:618982
HP:0002597	Abnormality of the vasculature	3560	IL2RB	ORPHA:85408
HP:0002597	Abnormality of the vasculature	3560	IL2RB	OMIM:618495
HP:0002597	Abnormality of the vasculature	79722	ANKRD55	ORPHA:85408
HP:0002597	Abnormality of the vasculature	919	CD247	ORPHA:85408
HP:0002597	Abnormality of the vasculature	3559	IL2RA	ORPHA:85408
HP:0002597	Abnormality of the vasculature	3559	IL2RA	OMIM:606367
HP:0002597	Abnormality of the vasculature	5771	PTPN2	ORPHA:85408
HP:0002597	Abnormality of the vasculature	939	CD27	OMIM:615122
HP:0002597	Abnormality of the vasculature	23149	FCHO1	OMIM:619164
HP:0002597	Abnormality of the vasculature	2130	EWSR1	ORPHA:83469
HP:0002597	Abnormality of the vasculature	3162	HMOX1	OMIM:614034
HP:0002597	Abnormality of the vasculature	841	CASP8	OMIM:607271
HP:0002597	Abnormality of the vasculature	8456	FOXN1	ORPHA:83471
HP:0002597	Abnormality of the vasculature	56259	CTNNBL1	OMIM:619846
HP:0002597	Abnormality of the vasculature	6772	STAT1	OMIM:614162
HP:0002597	Abnormality of the vasculature	7374	UNG	OMIM:608106
HP:0002597	Abnormality of the vasculature	28755	TRAC	OMIM:615387
HP:0002597	Abnormality of the vasculature	10125	RASGRP1	OMIM:618534
HP:0002597	Abnormality of the vasculature	3492	IGH	ORPHA:52416
HP:0002597	Abnormality of the vasculature	3492	IGH	ORPHA:52417
HP:0002597	Abnormality of the vasculature	3492	IGH	ORPHA:545
HP:0002597	Abnormality of the vasculature	330	BIRC3	ORPHA:52417
HP:0002597	Abnormality of the vasculature	10892	MALT1	ORPHA:52417
HP:0002597	Abnormality of the vasculature	27086	FOXP1	ORPHA:52417
HP:0002597	Abnormality of the vasculature	8915	BCL10	ORPHA:52417
HP:0002597	Abnormality of the vasculature	3572	IL6ST	OMIM:619750
HP:0002597	Abnormality of the vasculature	9636	ISG15	OMIM:616126
HP:0002597	Abnormality of the vasculature	6049	RNF6	ORPHA:99977
HP:0002597	Abnormality of the vasculature	51741	WWOX	ORPHA:99977
HP:0002597	Abnormality of the vasculature	9940	DLEC1	ORPHA:99977
HP:0002597	Abnormality of the vasculature	6609	SMPD1	OMIM:257200
HP:0002597	Abnormality of the vasculature	64421	DCLRE1C	OMIM:603554
HP:0002597	Abnormality of the vasculature	64421	DCLRE1C	ORPHA:39041
HP:0002597	Abnormality of the vasculature	3575	IL7R	ORPHA:169154
HP:0002597	Abnormality of the vasculature	3575	IL7R	ORPHA:39041
HP:0002597	Abnormality of the vasculature	3575	IL7R	OMIM:608971
HP:0002597	Abnormality of the vasculature	5293	PIK3CD	ORPHA:397596
HP:0002597	Abnormality of the vasculature	5293	PIK3CD	OMIM:615513
HP:0002597	Abnormality of the vasculature	57169	ZNFX1	OMIM:619644
HP:0002597	Abnormality of the vasculature	8565	YARS1	OMIM:619418
HP:0002597	Abnormality of the vasculature	1535	CYBA	OMIM:233690
HP:0002597	Abnormality of the vasculature	51311	TLR8	OMIM:301078
HP:0002597	Abnormality of the vasculature	1536	CYBB	OMIM:306400
HP:0002597	Abnormality of the vasculature	3394	IRF8	OMIM:614893
HP:0002597	Abnormality of the vasculature	3394	IRF8	ORPHA:319600
HP:0002597	Abnormality of the vasculature	4688	NCF2	OMIM:233710
HP:0002597	Abnormality of the vasculature	100151683	RNU4ATAC	ORPHA:353298
HP:0002597	Abnormality of the vasculature	100151683	RNU4ATAC	OMIM:616651
HP:0002597	Abnormality of the vasculature	596	BCL2	ORPHA:545
HP:0002597	Abnormality of the vasculature	604	BCL6	ORPHA:545
HP:0002597	Abnormality of the vasculature	4173	MCM4	OMIM:609981
HP:0002597	Abnormality of the vasculature	55315	SLC29A3	OMIM:602782
HP:0002597	Abnormality of the vasculature	55315	SLC29A3	ORPHA:168569
HP:0002597	Abnormality of the vasculature	57379	AICDA	OMIM:605258
HP:0002597	Abnormality of the vasculature	9948	WDR1	OMIM:150550
HP:0002597	Abnormality of the vasculature	81858	SHARPIN	OMIM:620795
HP:0002597	Abnormality of the vasculature	9837	GINS1	OMIM:617827
HP:0002597	Abnormality of the vasculature	5978	REST	ORPHA:654
HP:0002597	Abnormality of the vasculature	9319	TRIP13	ORPHA:654
HP:0002597	Abnormality of the vasculature	10155	TRIM28	ORPHA:654
HP:0002597	Abnormality of the vasculature	11281	POU6F2	ORPHA:654
HP:0002597	Abnormality of the vasculature	2719	GPC3	ORPHA:654
HP:0002597	Abnormality of the vasculature	283120	H19	ORPHA:654
HP:0002597	Abnormality of the vasculature	427	ASAH1	ORPHA:333
HP:0002597	Abnormality of the vasculature	84061	MAGT1	OMIM:300853
HP:0002597	Abnormality of the vasculature	10616	RBCK1	OMIM:615895
HP:0002597	Abnormality of the vasculature	79415	CYBC1	OMIM:618935
HP:0002597	Abnormality of the vasculature	285282	RABL3	ORPHA:1333
HP:0002597	Abnormality of the vasculature	23022	PALLD	ORPHA:1333
HP:0002597	Abnormality of the vasculature	5873	RAB27A	ORPHA:79477
HP:0002597	Abnormality of the vasculature	970	CD70	OMIM:618261
HP:0002597	Abnormality of the vasculature	3702	ITK	OMIM:613011
HP:0002597	Abnormality of the vasculature	5580	PRKCD	OMIM:615559
HP:0002597	Abnormality of the vasculature	6023	RMRP	ORPHA:39041
HP:0002597	Abnormality of the vasculature	100	ADA	ORPHA:39041
HP:0002597	Abnormality of the vasculature	3561	IL2RG	ORPHA:39041
HP:0002597	Abnormality of the vasculature	3931	LCAT	ORPHA:79292
HP:0002597	Abnormality of the vasculature	5294	PIK3CG	OMIM:619802
HP:0002597	Abnormality of the vasculature	51371	POMP	OMIM:618048
HP:0002597	Abnormality of the vasculature	8651	SOCS1	OMIM:619375
HP:0002597	Abnormality of the vasculature	27040	LAT	OMIM:617514
HP:0002597	Abnormality of the vasculature	8737	RIPK1	OMIM:618852
HP:0002597	Abnormality of the vasculature	28985	MCTS1	OMIM:301115
HP:0002597	Abnormality of the vasculature	5699	PSMB10	OMIM:620807
HP:0002597	Abnormality of the vasculature	4613	MYCN	ORPHA:635
HP:0002597	Abnormality of the vasculature	238	ALK	ORPHA:635
HP:0002597	Abnormality of the vasculature	389421	LIN28B	ORPHA:635
HP:0002597	Abnormality of the vasculature	4004	LMO1	ORPHA:635
HP:0002597	Abnormality of the vasculature	57531	HACE1	ORPHA:635
HP:0002597	Abnormality of the vasculature	8929	PHOX2B	ORPHA:635
HP:0002597	Abnormality of the vasculature	83706	FERMT3	OMIM:612840
HP:0002597	Abnormality of the vasculature	7535	ZAP70	ORPHA:911
HP:0002597	Abnormality of the vasculature	5993	RFX5	OMIM:620816
HP:0002597	Abnormality of the vasculature	6773	STAT2	OMIM:618886
HP:0002597	Abnormality of the vasculature	3659	IRF1	OMIM:620668
HP:0002597	Abnormality of the vasculature	7852	CXCR4	ORPHA:51636
HP:0002597	Abnormality of the vasculature	5788	PTPRC	OMIM:619924
HP:0002597	Abnormality of the vasculature	958	CD40	OMIM:606843
HP:0002597	Abnormality of the vasculature	959	CD40LG	OMIM:308230
HP:0002597	Abnormality of the vasculature	6309	SC5D	OMIM:607330
HP:0002597	Abnormality of the vasculature	1439	CSF2RB	ORPHA:264675
HP:0002597	Abnormality of the vasculature	1438	CSF2RA	ORPHA:264675
HP:0002597	Abnormality of the vasculature	5538	PPT1	OMIM:256730
HP:0002597	Abnormality of the vasculature	5654	HTRA1	ORPHA:199354
HP:0002597	Abnormality of the vasculature	54982	CLN6	OMIM:204300
HP:0002597	Abnormality of the vasculature	80331	DNAJC5	OMIM:162350
HP:0002597	Abnormality of the vasculature	1509	CTSD	OMIM:610127
HP:0002597	Abnormality of the vasculature	2055	CLN8	ORPHA:1947
HP:0002597	Abnormality of the vasculature	4854	NOTCH3	OMIM:125310
HP:0002597	Abnormality of the vasculature	9839	ZEB2	ORPHA:261537
HP:0002597	Abnormality of the vasculature	9839	ZEB2	ORPHA:261552
HP:0002597	Abnormality of the vasculature	7299	TYR	ORPHA:895
HP:0002597	Abnormality of the vasculature	6591	SNAI2	ORPHA:895
HP:0002597	Abnormality of the vasculature	1910	EDNRB	ORPHA:895
HP:0002597	Abnormality of the vasculature	4254	KITLG	ORPHA:895
HP:0002597	Abnormality of the vasculature	6663	SOX10	ORPHA:895
HP:0002597	Abnormality of the vasculature	145173	B3GLCT	ORPHA:709
HP:0002597	Abnormality of the vasculature	5080	PAX6	ORPHA:1065
HP:0002597	Abnormality of the vasculature	3708	ITPR1	ORPHA:1065
HP:0002597	Abnormality of the vasculature	55109	AGGF1	ORPHA:90308
HP:0002597	Abnormality of the vasculature	673	BRAF	ORPHA:500
HP:0002597	Abnormality of the vasculature	137814	NKX2-6	ORPHA:3384
HP:0002597	Abnormality of the vasculature	23129	PLXND1	ORPHA:3384
HP:0002597	Abnormality of the vasculature	25885	POLR1A	OMIM:616462
HP:0002597	Abnormality of the vasculature	8260	NAA10	OMIM:300855
HP:0002597	Abnormality of the vasculature	8260	NAA10	ORPHA:276432
HP:0002597	Abnormality of the vasculature	1272	CNTN1	OMIM:612540
HP:0002597	Abnormality of the vasculature	9681	DEPDC5	OMIM:620504
HP:0002597	Abnormality of the vasculature	64919	BCL11B	OMIM:617237
HP:0002597	Abnormality of the vasculature	85459	CEP295	OMIM:620767
HP:0002597	Abnormality of the vasculature	54361	WNT4	OMIM:611812
HP:0002597	Abnormality of the vasculature	415	ARSL	ORPHA:79345
HP:0002597	Abnormality of the vasculature	93233	ODAD1	OMIM:615067
HP:0002597	Abnormality of the vasculature	4256	MGP	ORPHA:85202
HP:0002597	Abnormality of the vasculature	92002	CCNQ	ORPHA:140952
HP:0002597	Abnormality of the vasculature	116519	APOA5	OMIM:145750
HP:0002597	Abnormality of the vasculature	3053	SERPIND1	OMIM:612356
HP:0002597	Abnormality of the vasculature	3777	KCNK3	OMIM:615344
HP:0002597	Abnormality of the vasculature	6662	SOX9	ORPHA:718
HP:0002597	Abnormality of the vasculature	144811	LACC1	ORPHA:85414
HP:0002597	Abnormality of the vasculature	4282	MIF	ORPHA:85414
HP:0002597	Abnormality of the vasculature	171019	ADAMTS19	OMIM:620067
HP:0002597	Abnormality of the vasculature	2303	FOXC2	ORPHA:33001
HP:0002597	Abnormality of the vasculature	64840	PORCN	ORPHA:2092
HP:0002597	Abnormality of the vasculature	2591	GALNT3	OMIM:211900
HP:0002597	Abnormality of the vasculature	5337	PLD1	OMIM:212093
HP:0002597	Abnormality of the vasculature	84231	TRAF7	OMIM:618164
HP:0002597	Abnormality of the vasculature	2657	GDF1	OMIM:208530
HP:0002597	Abnormality of the vasculature	2657	GDF1	OMIM:613854
HP:0002597	Abnormality of the vasculature	93	ACVR2B	OMIM:613751
HP:0002597	Abnormality of the vasculature	118856	MMP21	OMIM:616749
HP:0002597	Abnormality of the vasculature	8772	FADD	OMIM:613759
HP:0002597	Abnormality of the vasculature	8772	FADD	ORPHA:306550
HP:0002597	Abnormality of the vasculature	6597	SMARCA4	OMIM:614609
HP:0002597	Abnormality of the vasculature	55593	OTUD5	OMIM:301056
HP:0002597	Abnormality of the vasculature	168507	PKD1L1	OMIM:617205
HP:0002597	Abnormality of the vasculature	9772	TMEM94	OMIM:618316
HP:0002597	Abnormality of the vasculature	100128908	CIROP	OMIM:619702
HP:0002597	Abnormality of the vasculature	118924	FRA10AC1	OMIM:620113
HP:0002597	Abnormality of the vasculature	375	ARF1	ORPHA:98892
HP:0002597	Abnormality of the vasculature	4131	MAP1B	ORPHA:98892
HP:0002597	Abnormality of the vasculature	23327	NEDD4L	ORPHA:98892
HP:0002597	Abnormality of the vasculature	160418	TMTC3	ORPHA:98892
HP:0002597	Abnormality of the vasculature	10564	ARFGEF2	ORPHA:98892
HP:0002597	Abnormality of the vasculature	55780	ERMARD	ORPHA:98892
HP:0002597	Abnormality of the vasculature	23118	TAB2	OMIM:614980
HP:0002597	Abnormality of the vasculature	6711	SPTBN1	OMIM:619475
HP:0002597	Abnormality of the vasculature	4091	SMAD6	OMIM:614823
HP:0002597	Abnormality of the vasculature	3081	HGD	OMIM:203500
HP:0002597	Abnormality of the vasculature	3081	HGD	ORPHA:56
HP:0002597	Abnormality of the vasculature	3190	HNRNPK	ORPHA:453504
HP:0002597	Abnormality of the vasculature	3190	HNRNPK	ORPHA:352665
HP:0002597	Abnormality of the vasculature	51611	DPH5	OMIM:620070
HP:0002597	Abnormality of the vasculature	10743	RAI1	ORPHA:477817
HP:0002597	Abnormality of the vasculature	613	BCR	ORPHA:261330
HP:0002597	Abnormality of the vasculature	1399	CRKL	ORPHA:261330
HP:0002597	Abnormality of the vasculature	113246	C12orf57	OMIM:218340
HP:0002597	Abnormality of the vasculature	80204	FBXO11	OMIM:618089
HP:0002597	Abnormality of the vasculature	4621	MYH3	ORPHA:2990
HP:0002597	Abnormality of the vasculature	1146	CHRNG	ORPHA:2990
HP:0002597	Abnormality of the vasculature	2317	FLNB	OMIM:150250
HP:0002597	Abnormality of the vasculature	6874	TAF4	OMIM:620450
HP:0002597	Abnormality of the vasculature	2201	FBN2	ORPHA:115
HP:0002597	Abnormality of the vasculature	2548	GAA	OMIM:232300
HP:0002597	Abnormality of the vasculature	4796	TONSL	ORPHA:93357
HP:0002597	Abnormality of the vasculature	10491	CRTAP	OMIM:610682
HP:0002597	Abnormality of the vasculature	55181	SMG8	OMIM:619268
HP:0002597	Abnormality of the vasculature	3977	LIFR	OMIM:601559
HP:0002597	Abnormality of the vasculature	57551	TAOK1	OMIM:619575
HP:0002597	Abnormality of the vasculature	2972	BRF1	ORPHA:444072
HP:0002597	Abnormality of the vasculature	10293	TRAIP	OMIM:616777
HP:0002597	Abnormality of the vasculature	10157	AASS	ORPHA:2203
HP:0002597	Abnormality of the vasculature	8854	ALDH1A2	OMIM:620025
HP:0002597	Abnormality of the vasculature	286053	NSMCE2	OMIM:617253
HP:0002597	Abnormality of the vasculature	7547	ZIC3	OMIM:306955
HP:0002597	Abnormality of the vasculature	6210	RPS15A	OMIM:618313
HP:0002597	Abnormality of the vasculature	123606	NIPA1	ORPHA:261183
HP:0002597	Abnormality of the vasculature	7283	TUBG1	ORPHA:261183
HP:0002597	Abnormality of the vasculature	81614	NIPA2	ORPHA:261183
HP:0002597	Abnormality of the vasculature	220136	CFAP53	OMIM:614779
HP:0002597	Abnormality of the vasculature	164781	DAW1	OMIM:620570
HP:0002597	Abnormality of the vasculature	3990	LIPC	ORPHA:140905
HP:0002597	Abnormality of the vasculature	84984	CEP19	OMIM:615703
HP:0002597	Abnormality of the vasculature	4205	MEF2A	OMIM:608320
HP:0002597	Abnormality of the vasculature	4040	LRP6	OMIM:610947
HP:0002597	Abnormality of the vasculature	3198	HOXA1	OMIM:601536
HP:0002597	Abnormality of the vasculature	64093	SMOC1	ORPHA:1106
HP:0002597	Abnormality of the vasculature	128	ADH5	OMIM:619151
HP:0002597	Abnormality of the vasculature	7386	UQCRFS1	OMIM:618775
HP:0002597	Abnormality of the vasculature	7703	PCGF2	OMIM:618371
HP:0002597	Abnormality of the vasculature	340419	RSPO2	OMIM:618021
HP:0002597	Abnormality of the vasculature	2137	EXTL3	ORPHA:508533
HP:0002597	Abnormality of the vasculature	9653	HS2ST1	OMIM:619194
HP:0002597	Abnormality of the vasculature	10484	SEC23A	ORPHA:50814
HP:0002597	Abnormality of the vasculature	10484	SEC23A	OMIM:607812
HP:0002597	Abnormality of the vasculature	2033	EP300	OMIM:180849
HP:0002597	Abnormality of the vasculature	1387	CREBBP	OMIM:180849
HP:0002597	Abnormality of the vasculature	1857	DVL3	ORPHA:3107
HP:0002597	Abnormality of the vasculature	7474	WNT5A	ORPHA:3107
HP:0002597	Abnormality of the vasculature	1855	DVL1	ORPHA:3107
HP:0002597	Abnormality of the vasculature	526	ATP6V1B2	ORPHA:79500
HP:0002597	Abnormality of the vasculature	57465	TBC1D24	ORPHA:79500
HP:0002597	Abnormality of the vasculature	22827	PUF60	ORPHA:508488
HP:0002597	Abnormality of the vasculature	3791	KDR	OMIM:602089
HP:0002597	Abnormality of the vasculature	129563	DIS3L2	ORPHA:2849
HP:0002597	Abnormality of the vasculature	64220	STRA6	OMIM:601186
HP:0002597	Abnormality of the vasculature	7473	WNT3	OMIM:273395
HP:0002597	Abnormality of the vasculature	10568	SLC34A2	ORPHA:60025
HP:0002597	Abnormality of the vasculature	4093	SMAD9	OMIM:615342
HP:0002597	Abnormality of the vasculature	81704	DOCK8	OMIM:243700
HP:0002597	Abnormality of the vasculature	10621	POLR3F	OMIM:619872
HP:0002597	Abnormality of the vasculature	7319	UBE2A	ORPHA:163956
HP:0002597	Abnormality of the vasculature	10283	CWC27	ORPHA:166035
HP:0002597	Abnormality of the vasculature	8085	KMT2D	OMIM:620186
HP:0002597	Abnormality of the vasculature	440275	EIF2AK4	OMIM:234810
HP:0002597	Abnormality of the vasculature	440275	EIF2AK4	ORPHA:199241
HP:0002597	Abnormality of the vasculature	826	CAPNS1	OMIM:620777
HP:0002597	Abnormality of the vasculature	595	CCND1	OMIM:193300
HP:0002597	Abnormality of the vasculature	7428	VHL	OMIM:193300
HP:0002597	Abnormality of the vasculature	5649	RELN	ORPHA:89844
HP:0002597	Abnormality of the vasculature	10300	KATNB1	ORPHA:89844
HP:0002597	Abnormality of the vasculature	2294	FOXF1	OMIM:265380
HP:0002597	Abnormality of the vasculature	94	ACVRL1	OMIM:600376
HP:0002597	Abnormality of the vasculature	94	ACVRL1	ORPHA:774
HP:0002597	Abnormality of the vasculature	2658	GDF2	ORPHA:774
HP:0002597	Abnormality of the vasculature	4089	SMAD4	ORPHA:774
HP:0002597	Abnormality of the vasculature	4089	SMAD4	OMIM:175050
HP:0002597	Abnormality of the vasculature	2022	ENG	ORPHA:774
HP:0002597	Abnormality of the vasculature	2022	ENG	OMIM:187300
HP:0002597	Abnormality of the vasculature	857	CAV1	OMIM:606721
HP:0002597	Abnormality of the vasculature	5318	PKP2	OMIM:609040
HP:0002597	Abnormality of the vasculature	29925	GMPPB	ORPHA:363623
HP:0002597	Abnormality of the vasculature	54914	FOCAD	OMIM:619991
HP:0002597	Abnormality of the vasculature	2321	FLT1	ORPHA:275555
HP:0002597	Abnormality of the vasculature	219736	STOX1	ORPHA:275555
HP:0002597	Abnormality of the vasculature	10699	CORIN	ORPHA:275555
HP:0002597	Abnormality of the vasculature	11277	TREX1	ORPHA:247691
HP:0002597	Abnormality of the vasculature	1376	CPT2	OMIM:608836
HP:0002597	Abnormality of the vasculature	170302	ARX	ORPHA:94083
HP:0002597	Abnormality of the vasculature	55275	VPS53	OMIM:615851
HP:0002597	Abnormality of the vasculature	9675	TTI1	OMIM:620445
HP:0002597	Abnormality of the vasculature	10093	ARPC4	OMIM:620141
HP:0002597	Abnormality of the vasculature	5832	ALDH18A1	OMIM:219150
HP:0002597	Abnormality of the vasculature	10526	IPO8	OMIM:619472
HP:0002597	Abnormality of the vasculature	84342	COG8	OMIM:611182
HP:0002597	Abnormality of the vasculature	84342	COG8	ORPHA:95428
HP:0002597	Abnormality of the vasculature	5568	PRKACG	OMIM:616176
HP:0002597	Abnormality of the vasculature	831	CAST	OMIM:616295
HP:0002597	Abnormality of the vasculature	23545	ATP6V0A2	ORPHA:2834
HP:0002597	Abnormality of the vasculature	23545	ATP6V0A2	ORPHA:357074
HP:0002597	Abnormality of the vasculature	523	ATP6V1A	ORPHA:357074
HP:0002597	Abnormality of the vasculature	5447	POR	ORPHA:95699
HP:0002597	Abnormality of the vasculature	157570	ESCO2	OMIM:268300
HP:0002597	Abnormality of the vasculature	23554	TSPAN12	ORPHA:891
HP:0002597	Abnormality of the vasculature	388015	RTL1	ORPHA:96334
HP:0002597	Abnormality of the vasculature	8788	DLK1	ORPHA:96334
HP:0002597	Abnormality of the vasculature	55384	MEG3	ORPHA:96334
HP:0002597	Abnormality of the vasculature	80169	CTC1	OMIM:612199
HP:0002597	Abnormality of the vasculature	29072	SETD2	OMIM:620157
HP:0002597	Abnormality of the vasculature	29072	SETD2	OMIM:620155
HP:0002597	Abnormality of the vasculature	5111	PCNA	ORPHA:438134
HP:0002597	Abnormality of the vasculature	4536	MT-ND2	ORPHA:104
HP:0002597	Abnormality of the vasculature	4720	NDUFS2	ORPHA:104
HP:0002597	Abnormality of the vasculature	4519	MT-CYB	ORPHA:104
HP:0002597	Abnormality of the vasculature	4508	MT-ATP6	ORPHA:104
HP:0002597	Abnormality of the vasculature	4539	MT-ND4L	ORPHA:104
HP:0002597	Abnormality of the vasculature	4750	NEK1	ORPHA:2751
HP:0002597	Abnormality of the vasculature	726	CAPN5	OMIM:193235
HP:0002597	Abnormality of the vasculature	1121	CHM	OMIM:303100
HP:0002597	Abnormality of the vasculature	54903	MKS1	OMIM:615990
HP:0002597	Abnormality of the vasculature	2677	GGCX	ORPHA:436274
HP:0002597	Abnormality of the vasculature	167691	LCA5	ORPHA:364055
HP:0002597	Abnormality of the vasculature	64801	ARV1	OMIM:617020
HP:0002597	Abnormality of the vasculature	755	CFAP410	OMIM:617547
HP:0002597	Abnormality of the vasculature	755	CFAP410	ORPHA:1872
HP:0002597	Abnormality of the vasculature	22926	ATF6	ORPHA:1872
HP:0002597	Abnormality of the vasculature	22926	ATF6	ORPHA:49382
HP:0002597	Abnormality of the vasculature	64802	NMNAT1	ORPHA:1872
HP:0002597	Abnormality of the vasculature	64802	NMNAT1	OMIM:608553
HP:0002597	Abnormality of the vasculature	64802	NMNAT1	OMIM:619260
HP:0002597	Abnormality of the vasculature	84839	RAX2	ORPHA:1872
HP:0002597	Abnormality of the vasculature	84839	RAX2	OMIM:620102
HP:0002597	Abnormality of the vasculature	57096	RPGRIP1	ORPHA:1872
HP:0002597	Abnormality of the vasculature	57096	RPGRIP1	OMIM:608194
HP:0002597	Abnormality of the vasculature	57096	RPGRIP1	OMIM:613826
HP:0002597	Abnormality of the vasculature	1261	CNGA3	ORPHA:1872
HP:0002597	Abnormality of the vasculature	1261	CNGA3	ORPHA:49382
HP:0002597	Abnormality of the vasculature	5956	OPN1LW	ORPHA:1872
HP:0002597	Abnormality of the vasculature	778	CACNA1F	ORPHA:1872
HP:0002597	Abnormality of the vasculature	8754	ADAM9	ORPHA:1872
HP:0002597	Abnormality of the vasculature	3000	GUCY2D	ORPHA:1872
HP:0002597	Abnormality of the vasculature	3000	GUCY2D	OMIM:601777
HP:0002597	Abnormality of the vasculature	3000	GUCY2D	OMIM:204000
HP:0002597	Abnormality of the vasculature	22999	RIMS1	ORPHA:1872
HP:0002597	Abnormality of the vasculature	128338	DRAM2	ORPHA:1872
HP:0002597	Abnormality of the vasculature	2652	OPN1MW	ORPHA:1872
HP:0002597	Abnormality of the vasculature	9094	UNC119	ORPHA:1872
HP:0002597	Abnormality of the vasculature	9094	UNC119	OMIM:620342
HP:0002597	Abnormality of the vasculature	93589	CACNA2D4	ORPHA:1872
HP:0002597	Abnormality of the vasculature	2978	GUCA1A	ORPHA:1872
HP:0002597	Abnormality of the vasculature	282809	POC1B	ORPHA:1872
HP:0002597	Abnormality of the vasculature	83394	PITPNM3	ORPHA:1872
HP:0002597	Abnormality of the vasculature	23093	TTLL5	ORPHA:1872
HP:0002597	Abnormality of the vasculature	83723	TLCD3B	ORPHA:1872
HP:0002597	Abnormality of the vasculature	83723	TLCD3B	OMIM:619531
HP:0002597	Abnormality of the vasculature	23746	AIPL1	ORPHA:1872
HP:0002597	Abnormality of the vasculature	23746	AIPL1	OMIM:604393
HP:0002597	Abnormality of the vasculature	9364	RAB28	ORPHA:1872
HP:0002597	Abnormality of the vasculature	85015	USP45	OMIM:618513
HP:0002597	Abnormality of the vasculature	51109	RDH11	OMIM:616108
HP:0002597	Abnormality of the vasculature	79140	CCDC28B	OMIM:209900
HP:0002597	Abnormality of the vasculature	26504	CNNM4	OMIM:217080
HP:0002597	Abnormality of the vasculature	2257	FGF12	OMIM:617166
HP:0002597	Abnormality of the vasculature	28982	FLVCR1	OMIM:609033
HP:0002597	Abnormality of the vasculature	3035	HARS1	OMIM:614504
HP:0002597	Abnormality of the vasculature	25914	RTTN	ORPHA:468631
HP:0002597	Abnormality of the vasculature	5959	RDH5	ORPHA:52427
HP:0002597	Abnormality of the vasculature	3098	HK1	OMIM:617460
HP:0002597	Abnormality of the vasculature	6742	SSBP1	OMIM:165510
HP:0002597	Abnormality of the vasculature	5146	PDE6C	ORPHA:49382
HP:0002597	Abnormality of the vasculature	5149	PDE6H	ORPHA:49382
HP:0002597	Abnormality of the vasculature	2780	GNAT2	ORPHA:49382
HP:0002597	Abnormality of the vasculature	54714	CNGB3	ORPHA:49382
HP:0002597	Abnormality of the vasculature	112752	IFT43	OMIM:617871
HP:0002597	Abnormality of the vasculature	9187	SLC24A1	OMIM:613830
HP:0002597	Abnormality of the vasculature	6533	SLC6A6	OMIM:145350
HP:0002597	Abnormality of the vasculature	23155	CLCC1	OMIM:609913
HP:0002597	Abnormality of the vasculature	116150	NUS1	OMIM:617082
HP:0002597	Abnormality of the vasculature	57728	WDR19	OMIM:614376
HP:0002597	Abnormality of the vasculature	129880	BBS5	OMIM:615983
HP:0002597	Abnormality of the vasculature	27241	BBS9	OMIM:615986
HP:0002597	Abnormality of the vasculature	51095	TRNT1	OMIM:616959
HP:0002597	Abnormality of the vasculature	4653	MYOC	OMIM:137750
HP:0002597	Abnormality of the vasculature	2296	FOXC1	OMIM:601631
HP:0002597	Abnormality of the vasculature	3105	HLA-A	ORPHA:179
HP:0002597	Abnormality of the vasculature	4615	MYD88	ORPHA:33226
HP:0002597	Abnormality of the vasculature	4041	LRP5	ORPHA:90050
HP:0002597	Abnormality of the vasculature	8322	FZD4	ORPHA:90050
HP:0002597	Abnormality of the vasculature	92840	REEP6	ORPHA:791
HP:0002597	Abnormality of the vasculature	6094	ROM1	ORPHA:791
HP:0002597	Abnormality of the vasculature	6017	RLBP1	ORPHA:791
HP:0002597	Abnormality of the vasculature	7401	CLRN1	ORPHA:791
HP:0002597	Abnormality of the vasculature	24	ABCA4	ORPHA:791
HP:0002597	Abnormality of the vasculature	130557	ZNF513	ORPHA:791
HP:0002597	Abnormality of the vasculature	582	BBS1	ORPHA:791
HP:0002597	Abnormality of the vasculature	92211	CDHR1	ORPHA:791
HP:0002597	Abnormality of the vasculature	23568	ARL2BP	ORPHA:791
HP:0002597	Abnormality of the vasculature	6121	RPE65	ORPHA:791
HP:0002597	Abnormality of the vasculature	54806	AHI1	ORPHA:791
HP:0002597	Abnormality of the vasculature	6101	RP1	ORPHA:791
HP:0002597	Abnormality of the vasculature	3419	IDH3A	ORPHA:791
HP:0002597	Abnormality of the vasculature	4751	NEK2	ORPHA:791
HP:0002597	Abnormality of the vasculature	346007	EYS	ORPHA:791
HP:0002597	Abnormality of the vasculature	8100	IFT88	ORPHA:791
HP:0002597	Abnormality of the vasculature	23020	SNRNP200	ORPHA:791
HP:0002597	Abnormality of the vasculature	762	CA4	ORPHA:791
HP:0002597	Abnormality of the vasculature	138050	HGSNAT	ORPHA:791
HP:0002597	Abnormality of the vasculature	196	AHR	ORPHA:791
HP:0002597	Abnormality of the vasculature	3614	IMPDH1	ORPHA:791
HP:0002597	Abnormality of the vasculature	123016	TTC8	ORPHA:791
HP:0002597	Abnormality of the vasculature	6103	RPGR	ORPHA:791
HP:0002597	Abnormality of the vasculature	1406	CRX	ORPHA:791
HP:0002597	Abnormality of the vasculature	5148	PDE6G	ORPHA:791
HP:0002597	Abnormality of the vasculature	26160	IFT172	ORPHA:791
HP:0002597	Abnormality of the vasculature	26121	PRPF31	ORPHA:791
HP:0002597	Abnormality of the vasculature	583	BBS2	ORPHA:791
HP:0002597	Abnormality of the vasculature	4117	MAK	ORPHA:791
HP:0002597	Abnormality of the vasculature	25794	FSCN2	ORPHA:791
HP:0002597	Abnormality of the vasculature	375298	CERKL	ORPHA:791
HP:0002597	Abnormality of the vasculature	3420	IDH3B	ORPHA:791
HP:0002597	Abnormality of the vasculature	57670	KIAA1549	ORPHA:791
HP:0002597	Abnormality of the vasculature	7275	TUB	ORPHA:791
HP:0002597	Abnormality of the vasculature	24148	PRPF6	ORPHA:791
HP:0002597	Abnormality of the vasculature	23418	CRB1	ORPHA:791
HP:0002597	Abnormality of the vasculature	10461	MERTK	ORPHA:791
HP:0002597	Abnormality of the vasculature	57709	SLC7A14	ORPHA:791
HP:0002597	Abnormality of the vasculature	768206	PRCD	ORPHA:791
HP:0002597	Abnormality of the vasculature	7399	USH2A	ORPHA:791
HP:0002597	Abnormality of the vasculature	23370	ARHGEF18	ORPHA:791
HP:0002597	Abnormality of the vasculature	5949	RBP3	ORPHA:791
HP:0002597	Abnormality of the vasculature	6010	RHO	ORPHA:791
HP:0002597	Abnormality of the vasculature	6100	RP9	ORPHA:791
HP:0002597	Abnormality of the vasculature	10002	NR2E3	ORPHA:791
HP:0002597	Abnormality of the vasculature	9227	LRAT	ORPHA:791
HP:0002597	Abnormality of the vasculature	84140	FAM161A	ORPHA:791
HP:0002597	Abnormality of the vasculature	55812	SPATA7	ORPHA:791
HP:0002597	Abnormality of the vasculature	55624	POMGNT1	ORPHA:791
HP:0002597	Abnormality of the vasculature	79797	ZNF408	ORPHA:791
HP:0002597	Abnormality of the vasculature	403	ARL3	ORPHA:791
HP:0002597	Abnormality of the vasculature	5145	PDE6A	ORPHA:791
HP:0002597	Abnormality of the vasculature	10210	TOPORS	ORPHA:791
HP:0002597	Abnormality of the vasculature	8842	PROM1	ORPHA:791
HP:0002597	Abnormality of the vasculature	9128	PRPF4	ORPHA:791
HP:0002597	Abnormality of the vasculature	145226	RDH12	ORPHA:791
HP:0002597	Abnormality of the vasculature	50939	IMPG2	ORPHA:791
HP:0002597	Abnormality of the vasculature	8481	OFD1	ORPHA:791
HP:0002597	Abnormality of the vasculature	49855	SCAPER	ORPHA:791
HP:0002597	Abnormality of the vasculature	9742	IFT140	ORPHA:791
HP:0002597	Abnormality of the vasculature	2979	GUCA1B	ORPHA:791
HP:0002597	Abnormality of the vasculature	1259	CNGA1	ORPHA:791
HP:0002597	Abnormality of the vasculature	1258	CNGB1	ORPHA:791
HP:0002597	Abnormality of the vasculature	60509	AGBL5	ORPHA:791
HP:0002597	Abnormality of the vasculature	5961	PRPH2	ORPHA:791
HP:0002597	Abnormality of the vasculature	388939	PCARE	ORPHA:791
HP:0002597	Abnormality of the vasculature	7439	BEST1	ORPHA:791
HP:0002597	Abnormality of the vasculature	9785	DHX38	ORPHA:791
HP:0002597	Abnormality of the vasculature	7287	TULP1	ORPHA:791
HP:0002597	Abnormality of the vasculature	5995	RGR	ORPHA:791
HP:0002597	Abnormality of the vasculature	9129	PRPF3	ORPHA:791
HP:0002597	Abnormality of the vasculature	55975	KLHL7	ORPHA:791
HP:0002597	Abnormality of the vasculature	3617	IMPG1	ORPHA:791
HP:0002597	Abnormality of the vasculature	94137	RP1L1	ORPHA:791
HP:0002597	Abnormality of the vasculature	5158	PDE6B	ORPHA:791
HP:0002597	Abnormality of the vasculature	6102	RP2	ORPHA:791
HP:0002597	Abnormality of the vasculature	55857	KIZ	ORPHA:791
HP:0002597	Abnormality of the vasculature	64218	SEMA4A	ORPHA:791
HP:0002597	Abnormality of the vasculature	4901	NRL	ORPHA:791
HP:0002597	Abnormality of the vasculature	157657	CFAP418	ORPHA:791
HP:0002597	Abnormality of the vasculature	10594	PRPF8	ORPHA:791
HP:0002597	Abnormality of the vasculature	84100	ARL6	ORPHA:791
HP:0002597	Abnormality of the vasculature	6295	SAG	ORPHA:791
HP:0002597	Abnormality of the vasculature	79947	DHDDS	ORPHA:791
HP:0002597	Abnormality of the vasculature	1593	CYP27A1	ORPHA:909
HP:0002597	Abnormality of the vasculature	64127	NOD2	ORPHA:90340
HP:0002597	Abnormality of the vasculature	23474	ETHE1	OMIM:602473
HP:0002597	Abnormality of the vasculature	22947	DUX4L1	ORPHA:269
HP:0002597	Abnormality of the vasculature	1789	DNMT3B	ORPHA:269
HP:0002597	Abnormality of the vasculature	2483	FRG1	ORPHA:269
HP:0002597	Abnormality of the vasculature	23347	SMCHD1	ORPHA:269
HP:0002597	Abnormality of the vasculature	100288687	DUX4	ORPHA:269
HP:0002597	Abnormality of the vasculature	1188	CLCNKB	OMIM:607364
HP:0002597	Abnormality of the vasculature	2776	GNAQ	ORPHA:3205
HP:0002597	Abnormality of the vasculature	4773	NFATC2	OMIM:620232
HP:0002597	Abnormality of the vasculature	54820	NDE1	ORPHA:2177
HP:0002597	Abnormality of the vasculature	55636	CHD7	OMIM:214800
HP:0002597	Abnormality of the vasculature	204	AK2	ORPHA:33355
HP:0002597	Abnormality of the vasculature	199857	ALG14	OMIM:619036
HP:0002597	Abnormality of the vasculature	57216	VANGL2	ORPHA:563609
HP:0002597	Abnormality of the vasculature	81788	NUAK2	ORPHA:563609
HP:0002597	Abnormality of the vasculature	3074	HEXB	ORPHA:309155
HP:0002597	Abnormality of the vasculature	3074	HEXB	OMIM:268800
HP:0002597	Abnormality of the vasculature	2581	GALC	ORPHA:206436
HP:0002597	Abnormality of the vasculature	5660	PSAP	ORPHA:206436
HP:0002597	Abnormality of the vasculature	3073	HEXA	OMIM:272800
HP:0002597	Abnormality of the vasculature	1615	DARS1	OMIM:615281
HP:0002597	Abnormality of the vasculature	2760	GM2A	ORPHA:309246
HP:0002597	Abnormality of the vasculature	10730	YME1L1	OMIM:617302
HP:0002597	Abnormality of the vasculature	25981	DNAH1	ORPHA:244
HP:0002597	Abnormality of the vasculature	115948	ODAD3	ORPHA:244
HP:0002597	Abnormality of the vasculature	54768	HYDIN	ORPHA:244
HP:0002597	Abnormality of the vasculature	352909	DNAAF3	ORPHA:244
HP:0002597	Abnormality of the vasculature	27148	STK36	ORPHA:244
HP:0002597	Abnormality of the vasculature	51314	NME8	ORPHA:244
HP:0002597	Abnormality of the vasculature	92749	DRC1	ORPHA:244
HP:0002597	Abnormality of the vasculature	54970	TTC12	ORPHA:244
HP:0002597	Abnormality of the vasculature	152110	NEK10	ORPHA:244
HP:0002597	Abnormality of the vasculature	2302	FOXJ1	ORPHA:244
HP:0002597	Abnormality of the vasculature	221421	RSPH9	ORPHA:244
HP:0002597	Abnormality of the vasculature	85478	CCDC65	ORPHA:244
HP:0002597	Abnormality of the vasculature	55036	CCDC40	ORPHA:244
HP:0002597	Abnormality of the vasculature	51364	ZMYND10	ORPHA:244
HP:0002597	Abnormality of the vasculature	64446	DNAI2	ORPHA:244
HP:0002597	Abnormality of the vasculature	8382	NME5	ORPHA:244
HP:0002597	Abnormality of the vasculature	6674	SPAG1	ORPHA:244
HP:0002597	Abnormality of the vasculature	83544	DNAL1	ORPHA:244
HP:0002597	Abnormality of the vasculature	89765	RSPH1	ORPHA:244
HP:0002597	Abnormality of the vasculature	83538	ODAD4	ORPHA:244
HP:0002597	Abnormality of the vasculature	200373	CFAP221	ORPHA:244
HP:0002597	Abnormality of the vasculature	374407	DNAJB13	ORPHA:244
HP:0002597	Abnormality of the vasculature	55172	DNAAF2	ORPHA:244
HP:0002597	Abnormality of the vasculature	161582	DNAAF4	ORPHA:244
HP:0002597	Abnormality of the vasculature	2622	GAS8	ORPHA:244
HP:0002597	Abnormality of the vasculature	23639	DNAAF11	ORPHA:244
HP:0002597	Abnormality of the vasculature	27019	DNAI1	ORPHA:244
HP:0002597	Abnormality of the vasculature	345895	RSPH4A	ORPHA:244
HP:0002597	Abnormality of the vasculature	54919	DNAAF5	ORPHA:244
HP:0002597	Abnormality of the vasculature	85452	CFAP74	ORPHA:244
HP:0002597	Abnormality of the vasculature	55130	ODAD2	ORPHA:244
HP:0002597	Abnormality of the vasculature	1767	DNAH5	ORPHA:244
HP:0002597	Abnormality of the vasculature	83861	RSPH3	ORPHA:244
HP:0002597	Abnormality of the vasculature	345643	MCIDAS	ORPHA:244
HP:0002597	Abnormality of the vasculature	56683	CFAP298	ORPHA:244
HP:0002597	Abnormality of the vasculature	79925	SPEF2	ORPHA:244
HP:0002597	Abnormality of the vasculature	10309	CCNO	ORPHA:244
HP:0002597	Abnormality of the vasculature	115399	LRRC56	ORPHA:244
HP:0002597	Abnormality of the vasculature	139212	DNAAF6	ORPHA:244
HP:0002597	Abnormality of the vasculature	123872	DNAAF1	ORPHA:244
HP:0002597	Abnormality of the vasculature	85016	CFAP300	ORPHA:244
HP:0002597	Abnormality of the vasculature	339829	CCDC39	ORPHA:244
HP:0002597	Abnormality of the vasculature	8701	DNAH11	ORPHA:244
HP:0002597	Abnormality of the vasculature	1770	DNAH9	ORPHA:244
HP:0002597	Abnormality of the vasculature	246176	GAS2L2	ORPHA:244
HP:0002597	Abnormality of the vasculature	1718	DHCR24	ORPHA:35107
HP:0002597	Abnormality of the vasculature	6910	TBX5	ORPHA:392
HP:0002597	Abnormality of the vasculature	27125	AFF4	OMIM:616368
HP:0002597	Abnormality of the vasculature	134701	RIPPLY2	ORPHA:2311
HP:0002597	Abnormality of the vasculature	10683	DLL3	ORPHA:2311
HP:0002597	Abnormality of the vasculature	3955	LFNG	ORPHA:2311
HP:0002597	Abnormality of the vasculature	84667	HES7	ORPHA:2311
HP:0002597	Abnormality of the vasculature	145873	MESP2	ORPHA:2311
HP:0002597	Abnormality of the vasculature	745	MYRF	OMIM:618280
HP:0002597	Abnormality of the vasculature	54916	TMEM260	OMIM:617478
HP:0002597	Abnormality of the vasculature	5296	PIK3R2	OMIM:603387
HP:0002597	Abnormality of the vasculature	4558	MT-TF	ORPHA:550
HP:0002597	Abnormality of the vasculature	4572	MT-TQ	ORPHA:550
HP:0002597	Abnormality of the vasculature	4512	MT-CO1	ORPHA:550
HP:0002597	Abnormality of the vasculature	4513	MT-CO2	ORPHA:550
HP:0002597	Abnormality of the vasculature	4514	MT-CO3	ORPHA:550
HP:0002597	Abnormality of the vasculature	4578	MT-TW	ORPHA:550
HP:0002597	Abnormality of the vasculature	4540	MT-ND5	ORPHA:550
HP:0002597	Abnormality of the vasculature	4541	MT-ND6	ORPHA:550
HP:0002597	Abnormality of the vasculature	4535	MT-ND1	ORPHA:550
HP:0002597	Abnormality of the vasculature	4538	MT-ND4	ORPHA:550
HP:0002597	Abnormality of the vasculature	4567	MT-TL1	ORPHA:550
HP:0002597	Abnormality of the vasculature	4574	MT-TS1	ORPHA:550
HP:0002597	Abnormality of the vasculature	4575	MT-TS2	ORPHA:550
HP:0002597	Abnormality of the vasculature	4564	MT-TH	ORPHA:550
HP:0002597	Abnormality of the vasculature	2235	FECH	OMIM:177000
HP:0002597	Abnormality of the vasculature	2235	FECH	ORPHA:79278
HP:0002597	Abnormality of the vasculature	3858	KRT10	OMIM:607602
HP:0002597	Abnormality of the vasculature	3848	KRT1	OMIM:620148
HP:0002597	Abnormality of the vasculature	3848	KRT1	ORPHA:530838
HP:0002597	Abnormality of the vasculature	7518	XRCC4	ORPHA:99812
HP:0002597	Abnormality of the vasculature	362	AQP5	ORPHA:2337
HP:0002597	Abnormality of the vasculature	55630	SLC39A4	ORPHA:37
HP:0002597	Abnormality of the vasculature	7051	TGM1	ORPHA:281127
HP:0002597	Abnormality of the vasculature	9790	BMS1	ORPHA:1114
HP:0002597	Abnormality of the vasculature	5339	PLEC	ORPHA:1114
HP:0002597	Abnormality of the vasculature	10054	UBA2	ORPHA:1114
HP:0002597	Abnormality of the vasculature	3691	ITGB4	ORPHA:1114
HP:0002597	Abnormality of the vasculature	162514	TRPV3	ORPHA:659
HP:0002597	Abnormality of the vasculature	64065	PERP	ORPHA:659
HP:0002597	Abnormality of the vasculature	7132	TNFRSF1A	ORPHA:32960
HP:0002597	Abnormality of the vasculature	1277	COL1A1	ORPHA:31112
HP:0002597	Abnormality of the vasculature	27032	ATP2C1	ORPHA:2841
HP:0002597	Abnormality of the vasculature	27032	ATP2C1	OMIM:169600
HP:0002597	Abnormality of the vasculature	6868	ADAM17	ORPHA:294023
HP:0002597	Abnormality of the vasculature	1956	EGFR	ORPHA:294023
HP:0002597	Abnormality of the vasculature	3849	KRT2	ORPHA:455
HP:0002597	Abnormality of the vasculature	3106	HLA-B	ORPHA:36426
HP:0002597	Abnormality of the vasculature	10320	IKZF1	ORPHA:36426
HP:0002597	Abnormality of the vasculature	6335	SCN9A	ORPHA:90026
HP:0002597	Abnormality of the vasculature	11280	SCN11A	ORPHA:90026
HP:0002597	Abnormality of the vasculature	6336	SCN10A	ORPHA:90026
HP:0002597	Abnormality of the vasculature	50814	NSDHL	OMIM:308050
HP:0002597	Abnormality of the vasculature	26525	IL36RN	OMIM:614204
HP:0002597	Abnormality of the vasculature	5238	PGM3	OMIM:615816
HP:0002597	Abnormality of the vasculature	80326	WNT10A	OMIM:257980
HP:0002597	Abnormality of the vasculature	54539	NDUFB11	ORPHA:2556
HP:0002597	Abnormality of the vasculature	1349	COX7B	ORPHA:2556
HP:0002597	Abnormality of the vasculature	3052	HCCS	ORPHA:2556
HP:0002597	Abnormality of the vasculature	56984	PSMG2	OMIM:619183
HP:0002597	Abnormality of the vasculature	1508	CTSB	ORPHA:50943
HP:0002597	Abnormality of the vasculature	1508	CTSB	OMIM:148370
HP:0002597	Abnormality of the vasculature	84818	IL17RC	ORPHA:1334
HP:0002597	Abnormality of the vasculature	64581	CLEC7A	ORPHA:1334
HP:0002597	Abnormality of the vasculature	23765	IL17RA	ORPHA:1334
HP:0002597	Abnormality of the vasculature	10758	TRAF3IP2	ORPHA:1334
HP:0002597	Abnormality of the vasculature	112744	IL17F	ORPHA:1334
HP:0002597	Abnormality of the vasculature	1832	DSP	OMIM:615821
HP:0002597	Abnormality of the vasculature	2752	GLUL	OMIM:610015
HP:0002597	Abnormality of the vasculature	2697	GJA1	ORPHA:317
HP:0002597	Abnormality of the vasculature	2697	GJA1	OMIM:617525
HP:0002597	Abnormality of the vasculature	2707	GJB3	ORPHA:317
HP:0002597	Abnormality of the vasculature	2531	KDSR	ORPHA:317
HP:0002597	Abnormality of the vasculature	2531	KDSR	ORPHA:316
HP:0002597	Abnormality of the vasculature	2531	KDSR	OMIM:617526
HP:0002597	Abnormality of the vasculature	127534	GJB4	ORPHA:317
HP:0002597	Abnormality of the vasculature	127534	GJB4	OMIM:617524
HP:0002597	Abnormality of the vasculature	9333	TGM5	OMIM:609796
HP:0002597	Abnormality of the vasculature	9333	TGM5	ORPHA:263534
HP:0002597	Abnormality of the vasculature	1174	AP1S1	OMIM:609313
HP:0002597	Abnormality of the vasculature	4210	MEFV	OMIM:608068
HP:0002597	Abnormality of the vasculature	4210	MEFV	ORPHA:342
HP:0002597	Abnormality of the vasculature	54795	TRPM4	ORPHA:316
HP:0002597	Abnormality of the vasculature	4014	LORICRIN	ORPHA:316
HP:0002597	Abnormality of the vasculature	3889	KRT83	ORPHA:316
HP:0002597	Abnormality of the vasculature	59344	ALOXE3	OMIM:242100
HP:0002597	Abnormality of the vasculature	59344	ALOXE3	OMIM:606545
HP:0002597	Abnormality of the vasculature	242	ALOX12B	OMIM:242100
HP:0002597	Abnormality of the vasculature	6820	SULT2B1	OMIM:617571
HP:0002597	Abnormality of the vasculature	11012	KLK11	OMIM:620507
HP:0002597	Abnormality of the vasculature	4035	LRP1	OMIM:604093
HP:0002597	Abnormality of the vasculature	4035	LRP1	ORPHA:79100
HP:0002597	Abnormality of the vasculature	5336	PLCG2	OMIM:614468
HP:0002597	Abnormality of the vasculature	5336	PLCG2	OMIM:614878
HP:0002597	Abnormality of the vasculature	3675	ITGA3	OMIM:614748
HP:0002597	Abnormality of the vasculature	3248	HPGD	OMIM:259100
HP:0002597	Abnormality of the vasculature	5184	PEPD	ORPHA:742
HP:0002597	Abnormality of the vasculature	8517	IKBKG	ORPHA:464
HP:0002597	Abnormality of the vasculature	8517	IKBKG	OMIM:308300
HP:0002597	Abnormality of the vasculature	6774	STAT3	OMIM:147060
HP:0002597	Abnormality of the vasculature	57152	SLURP1	ORPHA:87503
HP:0002597	Abnormality of the vasculature	643418	LIPN	OMIM:613943
HP:0002597	Abnormality of the vasculature	51163	DBR1	OMIM:620510
HP:0002597	Abnormality of the vasculature	147409	DSG4	OMIM:607903
HP:0002597	Abnormality of the vasculature	55739	NAXD	OMIM:618321
HP:0002597	Abnormality of the vasculature	55612	FERMT1	ORPHA:2908
HP:0002597	Abnormality of the vasculature	1475	CSTA	ORPHA:263534
HP:0002597	Abnormality of the vasculature	4921	DDR2	OMIM:618175
HP:0002597	Abnormality of the vasculature	667	DST	OMIM:614653
HP:0002597	Abnormality of the vasculature	5696	PSMB8	OMIM:256040
HP:0002597	Abnormality of the vasculature	3852	KRT5	ORPHA:79396
HP:0002597	Abnormality of the vasculature	3861	KRT14	ORPHA:79396
HP:0002597	Abnormality of the vasculature	1493	CTLA4	ORPHA:2584
HP:0002597	Abnormality of the vasculature	940	CD28	ORPHA:2584
HP:0002597	Abnormality of the vasculature	7133	TNFRSF1B	ORPHA:2584
HP:0002597	Abnormality of the vasculature	1027	CDKN1B	ORPHA:276152
HP:0002597	Abnormality of the vasculature	51726	DNAJB11	ORPHA:730
HP:0002597	Abnormality of the vasculature	23193	GANAB	ORPHA:730
HP:0002597	Abnormality of the vasculature	5310	PKD1	ORPHA:730
HP:0002597	Abnormality of the vasculature	5311	PKD2	ORPHA:730
HP:0002597	Abnormality of the vasculature	29880	ALG5	ORPHA:730
HP:0002597	Abnormality of the vasculature	79796	ALG9	ORPHA:730
HP:0002597	Abnormality of the vasculature	80114	BICC1	ORPHA:730
HP:0002597	Abnormality of the vasculature	6340	SCNN1G	ORPHA:171876
HP:0002597	Abnormality of the vasculature	6337	SCNN1A	ORPHA:171876
HP:0002597	Abnormality of the vasculature	6338	SCNN1B	ORPHA:171876
HP:0002597	Abnormality of the vasculature	219972	MPEG1	OMIM:619223
HP:0002597	Abnormality of the vasculature	718	C3	OMIM:613779
HP:0002597	Abnormality of the vasculature	3514	IGKC	ORPHA:183675
HP:0002597	Abnormality of the vasculature	3501	IGHG2	ORPHA:183675
HP:0002597	Abnormality of the vasculature	4644	MYO5A	OMIM:214450
HP:0002597	Abnormality of the vasculature	5290	PIK3CA	ORPHA:314662
HP:0002597	Abnormality of the vasculature	5290	PIK3CA	ORPHA:221061
HP:0002597	Abnormality of the vasculature	11235	PDCD10	ORPHA:221061
HP:0002597	Abnormality of the vasculature	83605	CCM2	ORPHA:221061
HP:0002597	Abnormality of the vasculature	889	KRIT1	ORPHA:221061
HP:0002597	Abnormality of the vasculature	4953	ODC1	ORPHA:544488
HP:0002597	Abnormality of the vasculature	2050	EPHB4	ORPHA:137667
HP:0002597	Abnormality of the vasculature	5921	RASA1	ORPHA:137667
HP:0002597	Abnormality of the vasculature	175	AGA	ORPHA:93
HP:0002597	Abnormality of the vasculature	4758	NEU1	ORPHA:812
HP:0002597	Abnormality of the vasculature	51816	ADA2	ORPHA:820
HP:0002597	Abnormality of the vasculature	2517	FUCA1	ORPHA:349
HP:0002597	Abnormality of the vasculature	207	AKT1	ORPHA:744
HP:0002597	Abnormality of the vasculature	56006	SMG9	OMIM:616920
HP:0002597	Abnormality of the vasculature	2186	BPTF	ORPHA:529962
HP:0002597	Abnormality of the vasculature	93986	FOXP2	ORPHA:251061
HP:0002597	Abnormality of the vasculature	808	CALM3	OMIM:618782
HP:0002597	Abnormality of the vasculature	6811	STX5	OMIM:620454
HP:0002597	Abnormality of the vasculature	54892	NCAPG2	OMIM:618460
HP:0002597	Abnormality of the vasculature	5567	PRKACB	OMIM:619143
HP:0002597	Abnormality of the vasculature	51780	KDM3B	OMIM:618846
HP:0002597	Abnormality of the vasculature	6091	ROBO1	OMIM:620305
HP:0002597	Abnormality of the vasculature	3712	IVD	OMIM:243500
HP:0002597	Abnormality of the vasculature	5095	PCCA	OMIM:606054
HP:0002597	Abnormality of the vasculature	5096	PCCB	OMIM:606054
HP:0002597	Abnormality of the vasculature	5777	PTPN6	ORPHA:3243
HP:0002597	Abnormality of the vasculature	11198	SUPT16H	OMIM:619480
HP:0002597	Abnormality of the vasculature	10999	SLC27A4	OMIM:608649
HP:0002597	Abnormality of the vasculature	80232	WDR26	OMIM:617616
HP:0002597	Abnormality of the vasculature	80232	WDR26	ORPHA:513456
HP:0002597	Abnormality of the vasculature	93627	TBCK	OMIM:616900
HP:0002597	Abnormality of the vasculature	9203	ZMYM3	OMIM:301111
HP:0002597	Abnormality of the vasculature	10525	HYOU1	OMIM:233600
HP:0002597	Abnormality of the vasculature	7317	UBA1	OMIM:301054
HP:0002597	Abnormality of the vasculature	57466	SCAF4	OMIM:620511
HP:0002597	Abnormality of the vasculature	5518	PPP2R1A	ORPHA:457284
HP:0002597	Abnormality of the vasculature	10195	ALG3	ORPHA:79321
HP:0002597	Abnormality of the vasculature	1581	CYP7A1	ORPHA:209902
HP:0002597	Abnormality of the vasculature	4488	MSX2	ORPHA:60015
HP:0002597	Abnormality of the vasculature	60529	ALX4	ORPHA:60015
HP:0002597	Abnormality of the vasculature	55252	ASXL2	OMIM:617190
HP:0002597	Abnormality of the vasculature	6134	RPL10	OMIM:300998
HP:0002597	Abnormality of the vasculature	55768	NGLY1	OMIM:615273
HP:0002597	Abnormality of the vasculature	8294	H4C9	OMIM:619951
HP:0002597	Abnormality of the vasculature	1182	CLCN3	OMIM:619512
HP:0002597	Abnormality of the vasculature	1182	CLCN3	OMIM:619517
HP:0002597	Abnormality of the vasculature	6477	SIAH1	OMIM:619314
HP:0002597	Abnormality of the vasculature	85365	ALG2	OMIM:607906
HP:0002597	Abnormality of the vasculature	5361	PLXNA1	OMIM:619955
HP:0002597	Abnormality of the vasculature	5048	PAFAH1B1	ORPHA:95232
HP:0002597	Abnormality of the vasculature	5048	PAFAH1B1	OMIM:607432
HP:0002597	Abnormality of the vasculature	3020	H3-3A	OMIM:619720
HP:0002597	Abnormality of the vasculature	7543	ZFX	OMIM:301118
HP:0002597	Abnormality of the vasculature	51111	KMT5B	OMIM:617788
HP:0002597	Abnormality of the vasculature	1641	DCX	ORPHA:2148
HP:0002597	Abnormality of the vasculature	57688	ZSWIM6	OMIM:603671
HP:0002597	Abnormality of the vasculature	4016	LOXL1	OMIM:177650
HP:0002597	Abnormality of the vasculature	2202	EFEMP1	ORPHA:98977
HP:0002597	Abnormality of the vasculature	1545	CYP1B1	ORPHA:98977
HP:0002597	Abnormality of the vasculature	3458	IFNG	OMIM:613254
HP:0002597	Abnormality of the vasculature	3458	IFNG	ORPHA:805
HP:0002597	Abnormality of the vasculature	1282	COL4A1	ORPHA:73229
HP:0002597	Abnormality of the vasculature	54487	DGCR8	OMIM:192430
HP:0002597	Abnormality of the vasculature	8214	DGCR6	OMIM:192430
HP:0002597	Abnormality of the vasculature	8220	ESS2	OMIM:192430
HP:0002597	Abnormality of the vasculature	9993	DGCR2	OMIM:192430
HP:0002597	Abnormality of the vasculature	85465	SELENOI	OMIM:618768
HP:0002597	Abnormality of the vasculature	1063	CENPF	OMIM:243605
HP:0002597	Abnormality of the vasculature	3913	LAMB2	OMIM:609049
HP:0002597	Abnormality of the vasculature	92949	ADAMTSL1	ORPHA:521445
HP:0002597	Abnormality of the vasculature	4907	NT5E	ORPHA:289601
HP:0002597	Abnormality of the vasculature	567	B2M	ORPHA:314652
HP:0002597	Abnormality of the vasculature	10625	IVNS1ABP	OMIM:618969
HP:0002597	Abnormality of the vasculature	3932	LCK	OMIM:615758
HP:0002597	Abnormality of the vasculature	50619	DEF6	OMIM:619573
HP:0002597	Abnormality of the vasculature	5335	PLCG1	OMIM:620514
HP:0002597	Abnormality of the vasculature	5965	RECQL	OMIM:620370
HP:0002597	Abnormality of the vasculature	7045	TGFBI	ORPHA:98964
HP:0002597	Abnormality of the vasculature	3490	IGFBP7	OMIM:614224
HP:0002597	Abnormality of the vasculature	7477	WNT7B	ORPHA:2470
HP:0002597	Abnormality of the vasculature	5915	RARB	ORPHA:2470
HP:0002597	Abnormality of the vasculature	374879	ZNF699	OMIM:619488
HP:0002597	Abnormality of the vasculature	2703	GJA8	OMIM:612474
HP:0002597	Abnormality of the vasculature	2702	GJA5	OMIM:612474
HP:0002597	Abnormality of the vasculature	51434	ANAPC7	OMIM:619699
HP:0002597	Abnormality of the vasculature	2492	FSHR	ORPHA:64739
HP:0002597	Abnormality of the vasculature	6288	SAA1	ORPHA:85445
HP:0002597	Abnormality of the vasculature	4233	MET	ORPHA:33402
HP:0002597	Abnormality of the vasculature	1499	CTNNB1	ORPHA:33402
HP:0002597	Abnormality of the vasculature	462	SERPINC1	ORPHA:82
HP:0002597	Abnormality of the vasculature	6521	SLC4A1	ORPHA:3202
HP:0002597	Abnormality of the vasculature	9780	PIEZO1	ORPHA:3202
HP:0002597	Abnormality of the vasculature	3783	KCNN4	ORPHA:3202
HP:0002597	Abnormality of the vasculature	2615	LRRC32	OMIM:619074
HP:0002597	Abnormality of the vasculature	1906	EDN1	ORPHA:137888
HP:0002597	Abnormality of the vasculature	5332	PLCB4	ORPHA:137888
HP:0002597	Abnormality of the vasculature	2773	GNAI3	ORPHA:137888
HP:0002597	Abnormality of the vasculature	100131801	PET100	OMIM:619055
HP:0002597	Abnormality of the vasculature	92935	MARS2	OMIM:616430
HP:0002597	Abnormality of the vasculature	26047	CNTNAP2	OMIM:610042
HP:0002597	Abnormality of the vasculature	55788	LMBRD1	ORPHA:79284
HP:0002597	Abnormality of the vasculature	6678	SPARC	OMIM:616507
HP:0002597	Abnormality of the vasculature	3423	IDS	ORPHA:217085
HP:0002597	Abnormality of the vasculature	3423	IDS	ORPHA:217093
HP:0002597	Abnormality of the vasculature	208	AKT2	ORPHA:293964
HP:0002597	Abnormality of the vasculature	760	CA2	ORPHA:2785
HP:0002597	Abnormality of the vasculature	19	ABCA1	ORPHA:31150
HP:0002597	Abnormality of the vasculature	6261	RYR1	ORPHA:466650
HP:0002597	Abnormality of the vasculature	213	ALB	ORPHA:86816
HP:0002597	Abnormality of the vasculature	27235	COQ2	ORPHA:227510
HP:0002597	Abnormality of the vasculature	27235	COQ2	ORPHA:98933
HP:0002597	Abnormality of the vasculature	6696	SPP1	ORPHA:93552
HP:0002597	Abnormality of the vasculature	6696	SPP1	ORPHA:536
HP:0002597	Abnormality of the vasculature	6303	SAT1	ORPHA:93552
HP:0002597	Abnormality of the vasculature	3654	IRAK1	ORPHA:93552
HP:0002597	Abnormality of the vasculature	3654	IRAK1	ORPHA:536
HP:0002597	Abnormality of the vasculature	51284	TLR7	OMIM:301080
HP:0002597	Abnormality of the vasculature	51284	TLR7	ORPHA:536
HP:0002597	Abnormality of the vasculature	29927	SEC61A1	OMIM:620670
HP:0002597	Abnormality of the vasculature	2215	FCGR3B	ORPHA:536
HP:0002597	Abnormality of the vasculature	3684	ITGAM	ORPHA:536
HP:0002597	Abnormality of the vasculature	221895	JAZF1	ORPHA:536
HP:0002597	Abnormality of the vasculature	7292	TNFSF4	ORPHA:536
HP:0002597	Abnormality of the vasculature	640	BLK	ORPHA:536
HP:0002597	Abnormality of the vasculature	55024	BANK1	ORPHA:536
HP:0002597	Abnormality of the vasculature	3500	IGHG1	ORPHA:536
HP:0002597	Abnormality of the vasculature	5133	PDCD1	ORPHA:536
HP:0002597	Abnormality of the vasculature	2113	ETS1	ORPHA:536
HP:0002597	Abnormality of the vasculature	2213	FCGR2B	ORPHA:536
HP:0002597	Abnormality of the vasculature	10318	TNIP1	ORPHA:536
HP:0002597	Abnormality of the vasculature	7332	UBE2L3	ORPHA:536
HP:0002597	Abnormality of the vasculature	721	C4B	ORPHA:536
HP:0002597	Abnormality of the vasculature	1773	DNASE1	ORPHA:536
HP:0002597	Abnormality of the vasculature	54899	PXK	ORPHA:536
HP:0002597	Abnormality of the vasculature	7128	TNFAIP3	ORPHA:536
HP:0002597	Abnormality of the vasculature	54941	RNF125	OMIM:616260
HP:0002597	Abnormality of the vasculature	6559	SLC12A3	ORPHA:358
HP:0002597	Abnormality of the vasculature	4137	MAPT	ORPHA:240071
HP:0002597	Abnormality of the vasculature	6472	SHMT2	OMIM:619121
HP:0002597	Abnormality of the vasculature	26191	PTPN22	ORPHA:3437
HP:0002597	Abnormality of the vasculature	164	AP1G1	OMIM:619548
HP:0002597	Abnormality of the vasculature	9894	TELO2	ORPHA:488642
HP:0002597	Abnormality of the vasculature	1656	DDX6	OMIM:618653
HP:0002597	Abnormality of the vasculature	90417	KNSTRN	ORPHA:221139
HP:0002597	Abnormality of the vasculature	2642	GCGR	ORPHA:438274
HP:0002597	Abnormality of the vasculature	58499	ZNF462	OMIM:618619
HP:0002597	Abnormality of the vasculature	51119	SBDS	ORPHA:88
HP:0002597	Abnormality of the vasculature	2131	EXT1	ORPHA:321
HP:0002597	Abnormality of the vasculature	2132	EXT2	ORPHA:321
HP:0002597	Abnormality of the vasculature	7528	YY1	OMIM:617557
HP:0002597	Abnormality of the vasculature	6326	SCN2A	ORPHA:293181
HP:0002597	Abnormality of the vasculature	57468	SLC12A5	ORPHA:293181
HP:0002597	Abnormality of the vasculature	23236	PLCB1	ORPHA:293181
HP:0002597	Abnormality of the vasculature	57582	KCNT1	ORPHA:293181
HP:0002597	Abnormality of the vasculature	6323	SCN1A	ORPHA:293181
HP:0002597	Abnormality of the vasculature	79751	SLC25A22	ORPHA:293181
HP:0002597	Abnormality of the vasculature	79709	COLGALT1	OMIM:618360
HP:0002597	Abnormality of the vasculature	6452	SH3BP2	OMIM:118400
HP:0002597	Abnormality of the vasculature	6439	SFTPB	OMIM:265120
HP:0002597	Abnormality of the vasculature	6720	SREBF1	OMIM:619016
HP:0002597	Abnormality of the vasculature	81575	APOLD1	OMIM:620715
HP:0002597	Abnormality of the vasculature	23590	PDSS1	OMIM:614651
HP:0002597	Abnormality of the vasculature	490	ATP2B1	OMIM:619910
HP:0002597	Abnormality of the vasculature	3718	JAK3	OMIM:600802
HP:0002597	Abnormality of the vasculature	4792	NFKBIA	ORPHA:98813
HP:0002597	Abnormality of the vasculature	5426	POLE	OMIM:618336
HP:0002597	Abnormality of the vasculature	5426	POLE	OMIM:615139
HP:0002597	Abnormality of the vasculature	9620	CELSR1	OMIM:619319
HP:0002597	Abnormality of the vasculature	1725	DHPS	OMIM:618480
HP:0002597	Abnormality of the vasculature	10551	AGR2	OMIM:620233
HP:0002597	Abnormality of the vasculature	10112	KIF20A	OMIM:619433
HP:0002597	Abnormality of the vasculature	672	BRCA1	ORPHA:84
HP:0002597	Abnormality of the vasculature	10459	MAD2L2	ORPHA:84
HP:0002597	Abnormality of the vasculature	7516	XRCC2	ORPHA:84
HP:0002597	Abnormality of the vasculature	29089	UBE2T	ORPHA:84
HP:0002597	Abnormality of the vasculature	675	BRCA2	ORPHA:84
HP:0002597	Abnormality of the vasculature	55120	FANCL	ORPHA:84
HP:0002597	Abnormality of the vasculature	2187	FANCB	ORPHA:84
HP:0002597	Abnormality of the vasculature	2188	FANCF	ORPHA:84
HP:0002597	Abnormality of the vasculature	2189	FANCG	ORPHA:84
HP:0002597	Abnormality of the vasculature	5888	RAD51	ORPHA:84
HP:0002597	Abnormality of the vasculature	5889	RAD51C	ORPHA:84
HP:0002597	Abnormality of the vasculature	55159	RFWD3	ORPHA:84
HP:0002597	Abnormality of the vasculature	83990	BRIP1	ORPHA:84
HP:0002597	Abnormality of the vasculature	57697	FANCM	ORPHA:84
HP:0002597	Abnormality of the vasculature	79728	PALB2	ORPHA:84
HP:0002597	Abnormality of the vasculature	84464	SLX4	ORPHA:84
HP:0002597	Abnormality of the vasculature	55215	FANCI	ORPHA:84
HP:0002597	Abnormality of the vasculature	2990	GUSB	ORPHA:584
HP:0002597	Abnormality of the vasculature	23299	BICD2	OMIM:618291
HP:0002597	Abnormality of the vasculature	2639	GCDH	ORPHA:25
HP:0002597	Abnormality of the vasculature	2639	GCDH	OMIM:231670
HP:0002597	Abnormality of the vasculature	3703	STT3A	OMIM:619714
HP:0002597	Abnormality of the vasculature	8241	RBM10	OMIM:311900
HP:0002597	Abnormality of the vasculature	4221	MEN1	ORPHA:652
HP:0002597	Abnormality of the vasculature	1026	CDKN1A	ORPHA:652
HP:0002597	Abnormality of the vasculature	1031	CDKN2C	ORPHA:652
HP:0002597	Abnormality of the vasculature	55249	YY1AP1	ORPHA:79094
HP:0002597	Abnormality of the vasculature	205717	USF3	ORPHA:201
HP:0002597	Abnormality of the vasculature	100144748	KLLN	ORPHA:201
HP:0002597	Abnormality of the vasculature	3930	LBR	ORPHA:779
HP:0002597	Abnormality of the vasculature	1235	CCR6	ORPHA:220402
HP:0002597	Abnormality of the vasculature	79932	KIAA0319L	ORPHA:220402
HP:0002597	Abnormality of the vasculature	1490	CCN2	ORPHA:220402
HP:0002597	Abnormality of the vasculature	55699	IARS2	OMIM:616007
HP:0002597	Abnormality of the vasculature	81031	SLC2A10	ORPHA:3342
HP:0002597	Abnormality of the vasculature	1540	CYLD	ORPHA:867
HP:0002597	Abnormality of the vasculature	1540	CYLD	ORPHA:211
HP:0002597	Abnormality of the vasculature	11322	TMC6	ORPHA:302
HP:0002597	Abnormality of the vasculature	3574	IL7	ORPHA:302
HP:0002597	Abnormality of the vasculature	147138	TMC8	ORPHA:302
HP:0002597	Abnormality of the vasculature	10519	CIB1	ORPHA:302
HP:0002597	Abnormality of the vasculature	63916	ELMO2	ORPHA:3019
HP:0002597	Abnormality of the vasculature	1281	COL3A1	ORPHA:286
HP:0002597	Abnormality of the vasculature	1281	COL3A1	ORPHA:2500
HP:0002597	Abnormality of the vasculature	5424	POLD1	OMIM:615381
HP:0002597	Abnormality of the vasculature	26277	TINF2	ORPHA:1775
HP:0002597	Abnormality of the vasculature	55651	NHP2	ORPHA:1775
HP:0002597	Abnormality of the vasculature	55135	WRAP53	ORPHA:1775
HP:0002597	Abnormality of the vasculature	51750	RTEL1	ORPHA:1775
HP:0002597	Abnormality of the vasculature	4869	NPM1	ORPHA:1775
HP:0002597	Abnormality of the vasculature	7012	TERC	ORPHA:1775
HP:0002597	Abnormality of the vasculature	55505	NOP10	ORPHA:1775
HP:0002597	Abnormality of the vasculature	5073	PARN	ORPHA:1775
HP:0002597	Abnormality of the vasculature	7298	TYMS	ORPHA:1775
HP:0002597	Abnormality of the vasculature	351	APP	ORPHA:324703
HP:0002597	Abnormality of the vasculature	351	APP	ORPHA:324708
HP:0002597	Abnormality of the vasculature	5116	PCNT	ORPHA:2637
HP:0002597	Abnormality of the vasculature	9820	CUL7	ORPHA:2616
HP:0002597	Abnormality of the vasculature	23363	OBSL1	ORPHA:2616
HP:0002597	Abnormality of the vasculature	83987	CCDC8	ORPHA:2616
HP:0002597	Abnormality of the vasculature	6804	STX1A	ORPHA:904
HP:0002597	Abnormality of the vasculature	7461	CLIP2	ORPHA:904
HP:0002597	Abnormality of the vasculature	84277	DNAJC30	ORPHA:904
HP:0002597	Abnormality of the vasculature	8468	FKBP6	ORPHA:904
HP:0002597	Abnormality of the vasculature	5982	RFC2	ORPHA:904
HP:0002597	Abnormality of the vasculature	2969	GTF2I	ORPHA:904
HP:0002597	Abnormality of the vasculature	3984	LIMK1	ORPHA:904
HP:0002597	Abnormality of the vasculature	9569	GTF2IRD1	ORPHA:904
HP:0002597	Abnormality of the vasculature	155382	VPS37D	ORPHA:904
HP:0002597	Abnormality of the vasculature	155368	METTL27	ORPHA:904
HP:0002597	Abnormality of the vasculature	114049	BUD23	ORPHA:904
HP:0002597	Abnormality of the vasculature	7458	EIF4H	ORPHA:904
HP:0002597	Abnormality of the vasculature	84163	GTF2IRD2	ORPHA:904
HP:0002597	Abnormality of the vasculature	26608	TBL2	ORPHA:904
HP:0002597	Abnormality of the vasculature	653361	NCF1	ORPHA:904
HP:0002597	Abnormality of the vasculature	135886	TMEM270	ORPHA:904
HP:0002597	Abnormality of the vasculature	9031	BAZ1B	ORPHA:904
HP:0002597	Abnormality of the vasculature	7486	WRN	ORPHA:902
HP:0002597	Abnormality of the vasculature	5624	PROC	ORPHA:745
HP:0002597	Abnormality of the vasculature	56922	MCCC1	ORPHA:6
HP:0002597	Abnormality of the vasculature	64087	MCCC2	ORPHA:6
HP:0002597	Abnormality of the vasculature	10019	SH2B3	ORPHA:3318
HP:0002597	Abnormality of the vasculature	7157	TP53	ORPHA:3318
HP:0002597	Abnormality of the vasculature	84168	ANTXR1	ORPHA:2067
HP:0002597	Abnormality of the vasculature	5167	ENPP1	ORPHA:758
HP:0002597	Abnormality of the vasculature	368	ABCC6	ORPHA:758
HP:0002597	Abnormality of the vasculature	326	AIRE	ORPHA:3453
HP:0002597	Abnormality of the vasculature	5340	PLG	OMIM:619360
HP:0002597	Abnormality of the vasculature	284	ANGPT1	OMIM:619361
HP:0002597	Abnormality of the vasculature	26509	MYOF	OMIM:619366
HP:0002597	Abnormality of the vasculature	64711	HS3ST6	OMIM:619367
HP:0002597	Abnormality of the vasculature	3827	KNG1	OMIM:619363
HP:0002597	Abnormality of the vasculature	1776	DNASE1L3	ORPHA:36412
HP:0002597	Abnormality of the vasculature	2161	F12	OMIM:610618
HP:0002597	Abnormality of the vasculature	4693	NDP	ORPHA:649
HP:0002597	Abnormality of the vasculature	695	BTK	ORPHA:47
HP:0002597	Abnormality of the vasculature	998	CDC42	ORPHA:487796
HP:0002597	Abnormality of the vasculature	54345	SOX18	ORPHA:69735
HP:0002597	Abnormality of the vasculature	8314	BAP1	ORPHA:618
HP:0002597	Abnormality of the vasculature	4286	MITF	ORPHA:618
HP:0002597	Abnormality of the vasculature	1019	CDK4	ORPHA:618
HP:0002597	Abnormality of the vasculature	4255	MGMT	ORPHA:618
HP:0002597	Abnormality of the vasculature	54386	TERF2IP	ORPHA:618
HP:0002597	Abnormality of the vasculature	4157	MC1R	ORPHA:618
HP:0002597	Abnormality of the vasculature	65057	ACD	ORPHA:618
HP:0002597	Abnormality of the vasculature	1029	CDKN2A	ORPHA:618
HP:0002597	Abnormality of the vasculature	7015	TERT	ORPHA:618
HP:0002597	Abnormality of the vasculature	25913	POT1	ORPHA:618
HP:0002597	Abnormality of the vasculature	1030	CDKN2B	ORPHA:618
HP:0002597	Abnormality of the vasculature	22800	RRAS2	ORPHA:648
HP:0002597	Abnormality of the vasculature	867	CBL	ORPHA:648
HP:0002597	Abnormality of the vasculature	8216	LZTR1	ORPHA:648
HP:0002597	Abnormality of the vasculature	6016	RIT1	ORPHA:648
HP:0002597	Abnormality of the vasculature	6237	RRAS	ORPHA:648
HP:0002597	Abnormality of the vasculature	5894	RAF1	ORPHA:648
HP:0002597	Abnormality of the vasculature	22808	MRAS	ORPHA:648
HP:0002597	Abnormality of the vasculature	3845	KRAS	ORPHA:648
HP:0002597	Abnormality of the vasculature	200734	SPRED2	ORPHA:648
HP:0002597	Abnormality of the vasculature	4893	NRAS	ORPHA:648
HP:0002597	Abnormality of the vasculature	6654	SOS1	ORPHA:648
HP:0002597	Abnormality of the vasculature	6655	SOS2	ORPHA:648
HP:0002597	Abnormality of the vasculature	5781	PTPN11	ORPHA:648
HP:0002597	Abnormality of the vasculature	5922	RASA2	ORPHA:648
HP:0002597	Abnormality of the vasculature	7248	TSC1	ORPHA:538
HP:0002597	Abnormality of the vasculature	7249	TSC2	ORPHA:538
HP:0002597	Abnormality of the vasculature	5605	MAP2K2	ORPHA:638
HP:0002597	Abnormality of the vasculature	4763	NF1	ORPHA:638
HP:0002597	Abnormality of the vasculature	9508	ADAMTS3	ORPHA:2136
HP:0002597	Abnormality of the vasculature	147372	CCBE1	ORPHA:2136
HP:0002597	Abnormality of the vasculature	79633	FAT4	ORPHA:2136
HP:0002597	Abnormality of the vasculature	80781	COL18A1	ORPHA:1571
HP:0002597	Abnormality of the vasculature	5062	PAK2	ORPHA:1571
HP:0002597	Abnormality of the vasculature	3425	IDUA	ORPHA:93473
HP:0002597	Abnormality of the vasculature	3425	IDUA	ORPHA:93476
HP:0002597	Abnormality of the vasculature	1312	COMT	ORPHA:567
HP:0002597	Abnormality of the vasculature	221037	JMJD1C	ORPHA:567
HP:0002597	Abnormality of the vasculature	2812	GP1BB	ORPHA:567
HP:0002597	Abnormality of the vasculature	6239	RREB1	ORPHA:567
HP:0002597	Abnormality of the vasculature	7290	HIRA	ORPHA:567
HP:0002597	Abnormality of the vasculature	9632	SEC24C	ORPHA:567
HP:0002597	Abnormality of the vasculature	7353	UFD1	ORPHA:567
HP:0002597	Abnormality of the vasculature	421	ARVCF	ORPHA:567
HP:0002597	Abnormality of the vasculature	6850	SYK	OMIM:619381
HP:0002597	Abnormality of the vasculature	10095	ARPC1B	OMIM:617718
HP:0002597	Abnormality of the vasculature	713	C1QB	OMIM:620321
HP:0002597	Abnormality of the vasculature	3055	HCK	OMIM:620296
HP:0002597	Abnormality of the vasculature	29110	TBK1	OMIM:620880
HP:0002597	Abnormality of the vasculature	146206	CARMIL2	OMIM:618131
HP:0002597	Abnormality of the vasculature	4771	NF2	ORPHA:93921
HP:0002597	Abnormality of the vasculature	6598	SMARCB1	ORPHA:93921
HP:0002597	Abnormality of the vasculature	51004	COQ6	ORPHA:93921
HP:0002597	Abnormality of the vasculature	2304	FOXE1	ORPHA:319487
HP:0002597	Abnormality of the vasculature	3026	HABP2	ORPHA:319487
HP:0002597	Abnormality of the vasculature	9562	MINPP1	ORPHA:319487
HP:0002597	Abnormality of the vasculature	3949	LDLR	ORPHA:391665
HP:0002597	Abnormality of the vasculature	255738	PCSK9	ORPHA:391665
HP:0002597	Abnormality of the vasculature	26119	LDLRAP1	ORPHA:391665
HP:0002597	Abnormality of the vasculature	338	APOB	ORPHA:391665
HP:0002597	Abnormality of the vasculature	64240	ABCG5	ORPHA:391665
HP:0002597	Abnormality of the vasculature	64241	ABCG8	ORPHA:391665
HP:0002599	Head titubation	16	AARS1	OMIM:619691
HP:0002599	Head titubation	3735	KARS1	ORPHA:3240
HP:0002599	Head titubation	5354	PLP1	OMIM:312080
HP:0002599	Head titubation	7345	UCHL1	OMIM:615491
HP:0002599	Head titubation	84504	NKX6-2	ORPHA:527497
HP:0002599	Head titubation	84504	NKX6-2	OMIM:617560
HP:0002599	Head titubation	6711	SPTBN1	OMIM:619475
HP:0002599	Head titubation	57679	ALS2	OMIM:205100
HP:0002599	Head titubation	57679	ALS2	ORPHA:300605
HP:0002599	Head titubation	267010	RNU12	OMIM:620208
HP:0002599	Head titubation	9725	TMEM63A	OMIM:618688
HP:0002599	Head titubation	57165	GJC2	OMIM:608804
HP:0002599	Head titubation	7274	TTPA	ORPHA:96
HP:0002599	Head titubation	2521	FUS	ORPHA:300605
HP:0002599	Head titubation	80208	SPG11	ORPHA:300605
HP:0002599	Head titubation	10280	SIGMAR1	ORPHA:300605
HP:0002599	Head titubation	10558	SPTLC1	ORPHA:300605
HP:0002599	Head titubation	26275	HIBCH	ORPHA:88639
HP:0002599	Head titubation	26275	HIBCH	OMIM:250620
HP:0002599	Head titubation	5277	PIGA	OMIM:300868
HP:0002599	Head titubation	3329	HSPD1	OMIM:612233
HP:0002599	Head titubation	23230	VPS13A	ORPHA:2388
HP:0002599	Head titubation	5610	EIF2AK2	OMIM:618877
HP:0002599	Head titubation	10749	KIF1C	OMIM:611302
HP:0002599	Head titubation	284217	LAMA1	ORPHA:370022
HP:0002599	Head titubation	25885	POLR1A	OMIM:620675
HP:0002599	Head titubation	4001	LMNB1	ORPHA:99027
HP:0002599	Head titubation	5297	PI4KA	OMIM:619708
HP:0020177	Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells	3659	IRF1	OMIM:620668
HP:0020177	Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells	54440	SASH3	OMIM:301082
HP:0020177	Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells	5294	PIK3CG	OMIM:619802
HP:0020177	Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells	6929	TCF3	OMIM:619824
HP:0020179	Abnormal circulating haptoglobin concentration	55072	RNF31	OMIM:620632
HP:0020179	Abnormal circulating haptoglobin concentration	5313	PKLR	OMIM:266200
HP:0020179	Abnormal circulating haptoglobin concentration	29071	C1GALT1C1	OMIM:301110
HP:0020179	Abnormal circulating haptoglobin concentration	7504	XK	OMIM:300842
HP:0020179	Abnormal circulating haptoglobin concentration	2694	CBLIF	OMIM:261000
HP:0020179	Abnormal circulating haptoglobin concentration	10661	KLF1	OMIM:613673
HP:0020179	Abnormal circulating haptoglobin concentration	226	ALDOA	OMIM:611881
HP:0020179	Abnormal circulating haptoglobin concentration	6513	SLC2A1	OMIM:612126
HP:0020179	Abnormal circulating haptoglobin concentration	7390	UROS	ORPHA:79277
HP:0020179	Abnormal circulating haptoglobin concentration	2623	GATA1	ORPHA:79277
HP:0020179	Abnormal circulating haptoglobin concentration	9493	KIF23	OMIM:105600
HP:0020179	Abnormal circulating haptoglobin concentration	6005	RHAG	ORPHA:71275
HP:0020179	Abnormal circulating haptoglobin concentration	6006	RHCE	ORPHA:71275
HP:0020179	Abnormal circulating haptoglobin concentration	6007	RHD	ORPHA:71275
HP:0020179	Abnormal circulating haptoglobin concentration	64241	ABCG8	OMIM:210250
HP:0020179	Abnormal circulating haptoglobin concentration	5277	PIGA	ORPHA:447
HP:0020180	Elevated haptoglobin level	55072	RNF31	OMIM:620632
HP:0020181	Reduced haptoglobin level	5313	PKLR	OMIM:266200
HP:0020181	Reduced haptoglobin level	29071	C1GALT1C1	OMIM:301110
HP:0020181	Reduced haptoglobin level	7504	XK	OMIM:300842
HP:0020181	Reduced haptoglobin level	2694	CBLIF	OMIM:261000
HP:0020181	Reduced haptoglobin level	10661	KLF1	OMIM:613673
HP:0020181	Reduced haptoglobin level	226	ALDOA	OMIM:611881
HP:0020181	Reduced haptoglobin level	6513	SLC2A1	OMIM:612126
HP:0020181	Reduced haptoglobin level	7390	UROS	ORPHA:79277
HP:0020181	Reduced haptoglobin level	2623	GATA1	ORPHA:79277
HP:0020181	Reduced haptoglobin level	9493	KIF23	OMIM:105600
HP:0020181	Reduced haptoglobin level	6005	RHAG	ORPHA:71275
HP:0020181	Reduced haptoglobin level	6006	RHCE	ORPHA:71275
HP:0020181	Reduced haptoglobin level	6007	RHD	ORPHA:71275
HP:0020181	Reduced haptoglobin level	64241	ABCG8	OMIM:210250
HP:0020181	Reduced haptoglobin level	5277	PIGA	ORPHA:447
HP:0020185	Superior cerebellar dysplasia	80210	ARMC9	OMIM:617622
HP:0020186	Multilobulated spleen	64220	STRA6	OMIM:601186
HP:0020187	Thick pachygyria	5048	PAFAH1B1	ORPHA:95232
HP:0020187	Thick pachygyria	9289	ADGRG1	ORPHA:98889
HP:0020187	Thick pachygyria	5297	PI4KA	ORPHA:98889
HP:0020187	Thick pachygyria	27286	SRPX2	ORPHA:98889
HP:0020189	Posterior predominant thick cortex pachygyria	5048	PAFAH1B1	ORPHA:95232
HP:0020190	Perisylvian predominant thick cortex pachygyria	9289	ADGRG1	ORPHA:98889
HP:0020190	Perisylvian predominant thick cortex pachygyria	5297	PI4KA	ORPHA:98889
HP:0020190	Perisylvian predominant thick cortex pachygyria	27286	SRPX2	ORPHA:98889
HP:0020191	Anterior predominant thick cortex pachygyria	5048	PAFAH1B1	ORPHA:95232
HP:0020198	Abnormal circulating 18-hydroxycorticosterone level	1585	CYP11B2	OMIM:610600
HP:0031901	Elevated total serum tryptase	171023	ASXL1	ORPHA:98850
HP:0031901	Elevated total serum tryptase	171023	ASXL1	ORPHA:98849
HP:0031901	Elevated total serum tryptase	54790	TET2	ORPHA:98850
HP:0031901	Elevated total serum tryptase	54790	TET2	ORPHA:98849
HP:0031901	Elevated total serum tryptase	867	CBL	ORPHA:98850
HP:0031901	Elevated total serum tryptase	861	RUNX1	ORPHA:98850
HP:0031901	Elevated total serum tryptase	6427	SRSF2	ORPHA:98850
HP:0031901	Elevated total serum tryptase	6427	SRSF2	ORPHA:98849
HP:0031901	Elevated total serum tryptase	3815	KIT	ORPHA:98849
HP:0031901	Elevated total serum tryptase	3815	KIT	ORPHA:79455
HP:0031903	Abnormal circulating selenium concentration	79048	SECISBP2	ORPHA:171706
HP:0031903	Abnormal circulating selenium concentration	4312	MMP1	ORPHA:79408
HP:0031903	Abnormal circulating selenium concentration	1294	COL7A1	ORPHA:79408
HP:0031903	Abnormal circulating selenium concentration	1294	COL7A1	ORPHA:89842
HP:0031903	Abnormal circulating selenium concentration	7234	TRU-TCA1-1	OMIM:620198
HP:0031904	Abnormal total hemolytic complement activity	727	C5	OMIM:609536
HP:0031904	Abnormal total hemolytic complement activity	729	C6	OMIM:612446
HP:0031904	Abnormal total hemolytic complement activity	720	C4A	OMIM:614380
HP:0031904	Abnormal total hemolytic complement activity	713	C1QB	OMIM:620321
HP:0031904	Abnormal total hemolytic complement activity	710	SERPING1	OMIM:106100
HP:0025434	Reduced circulating CH50 activity	727	C5	OMIM:609536
HP:0025434	Reduced circulating CH50 activity	729	C6	OMIM:612446
HP:0025434	Reduced circulating CH50 activity	720	C4A	OMIM:614380
HP:0025434	Reduced circulating CH50 activity	713	C1QB	OMIM:620321
HP:0025434	Reduced circulating CH50 activity	710	SERPING1	OMIM:106100
HP:0031908	Micrographia	4137	MAPT	ORPHA:240094
HP:0031908	Micrographia	4137	MAPT	OMIM:601104
HP:0031908	Micrographia	4137	MAPT	OMIM:168600
HP:0031908	Micrographia	23230	VPS13A	ORPHA:2388
HP:0031908	Micrographia	2512	FTL	OMIM:606159
HP:0031908	Micrographia	6575	SLC20A2	OMIM:213600
HP:0031908	Micrographia	5159	PDGFRB	OMIM:213600
HP:0031908	Micrographia	5155	PDGFB	OMIM:213600
HP:0031908	Micrographia	4287	ATXN3	OMIM:168600
HP:0031908	Micrographia	2629	GBA1	OMIM:168600
HP:0031908	Micrographia	126	ADH1C	OMIM:168600
HP:0031908	Micrographia	4576	MT-TT	OMIM:168600
HP:0031908	Micrographia	9627	SNCAIP	OMIM:168600
HP:0031908	Micrographia	6908	TBP	OMIM:168600
HP:0031908	Micrographia	4929	NR4A2	OMIM:168600
HP:0031908	Micrographia	6311	ATXN2	OMIM:168600
HP:0031908	Micrographia	6315	ATXN8OS	OMIM:168600
HP:0031908	Micrographia	6622	SNCA	OMIM:168601
HP:0031909	Unicornuate uterus	2783	GNB2	OMIM:619503
HP:0031910	Abnormal cranial nerve physiology	4359	MPZ	OMIM:618184
HP:0031910	Abnormal cranial nerve physiology	91574	MTRFR	ORPHA:254930
HP:0031910	Abnormal cranial nerve physiology	91574	MTRFR	OMIM:613559
HP:0031910	Abnormal cranial nerve physiology	8506	CNTNAP1	OMIM:618186
HP:0031910	Abnormal cranial nerve physiology	8506	CNTNAP1	OMIM:616286
HP:0031910	Abnormal cranial nerve physiology	112	ADCY6	OMIM:616287
HP:0031910	Abnormal cranial nerve physiology	2733	GLE1	OMIM:611890
HP:0031910	Abnormal cranial nerve physiology	1410	CRYAB	ORPHA:399058
HP:0031910	Abnormal cranial nerve physiology	19	ABCA1	OMIM:205400
HP:0031910	Abnormal cranial nerve physiology	19	ABCA1	ORPHA:31150
HP:0031910	Abnormal cranial nerve physiology	9997	SCO2	ORPHA:521411
HP:0031910	Abnormal cranial nerve physiology	253738	EBF3	ORPHA:96148
HP:0031910	Abnormal cranial nerve physiology	9289	ADGRG1	ORPHA:98889
HP:0031910	Abnormal cranial nerve physiology	5297	PI4KA	ORPHA:98889
HP:0031910	Abnormal cranial nerve physiology	27286	SRPX2	ORPHA:98889
HP:0031910	Abnormal cranial nerve physiology	8803	SUCLA2	OMIM:612073
HP:0031910	Abnormal cranial nerve physiology	6472	SHMT2	OMIM:619121
HP:0031910	Abnormal cranial nerve physiology	10730	YME1L1	OMIM:617302
HP:0031910	Abnormal cranial nerve physiology	2218	FKTN	ORPHA:370980
HP:0031910	Abnormal cranial nerve physiology	729920	CRPPA	ORPHA:370980
HP:0031910	Abnormal cranial nerve physiology	1760	DMPK	OMIM:160900
HP:0031910	Abnormal cranial nerve physiology	9990	SLC12A6	OMIM:218000
HP:0031910	Abnormal cranial nerve physiology	4649	MYO9A	ORPHA:98914
HP:0031910	Abnormal cranial nerve physiology	1103	CHAT	ORPHA:98914
HP:0031910	Abnormal cranial nerve physiology	6576	SLC25A1	ORPHA:98914
HP:0031910	Abnormal cranial nerve physiology	6843	VAMP1	ORPHA:98914
HP:0031910	Abnormal cranial nerve physiology	127833	SYT2	ORPHA:98914
HP:0031910	Abnormal cranial nerve physiology	6572	SLC18A3	ORPHA:98914
HP:0031910	Abnormal cranial nerve physiology	6616	SNAP25	ORPHA:98914
HP:0031910	Abnormal cranial nerve physiology	6390	SDHB	ORPHA:97286
HP:0031910	Abnormal cranial nerve physiology	6390	SDHB	OMIM:115310
HP:0031910	Abnormal cranial nerve physiology	6391	SDHC	ORPHA:97286
HP:0031910	Abnormal cranial nerve physiology	6391	SDHC	OMIM:605373
HP:0031910	Abnormal cranial nerve physiology	6392	SDHD	ORPHA:97286
HP:0031910	Abnormal cranial nerve physiology	6392	SDHD	OMIM:168000
HP:0031910	Abnormal cranial nerve physiology	28962	OSTM1	ORPHA:85179
HP:0031910	Abnormal cranial nerve physiology	10312	TCIRG1	OMIM:259700
HP:0031910	Abnormal cranial nerve physiology	10312	TCIRG1	ORPHA:667
HP:0031910	Abnormal cranial nerve physiology	5781	PTPN11	ORPHA:2499
HP:0031910	Abnormal cranial nerve physiology	8314	BAP1	ORPHA:2495
HP:0031910	Abnormal cranial nerve physiology	4771	NF2	ORPHA:2495
HP:0031910	Abnormal cranial nerve physiology	4771	NF2	ORPHA:637
HP:0031910	Abnormal cranial nerve physiology	6598	SMARCB1	ORPHA:2495
HP:0031910	Abnormal cranial nerve physiology	6598	SMARCB1	ORPHA:99966
HP:0031910	Abnormal cranial nerve physiology	5155	PDGFB	ORPHA:2495
HP:0031910	Abnormal cranial nerve physiology	84231	TRAF7	ORPHA:2495
HP:0031910	Abnormal cranial nerve physiology	6608	SMO	ORPHA:2495
HP:0031910	Abnormal cranial nerve physiology	207	AKT1	ORPHA:2495
HP:0031910	Abnormal cranial nerve physiology	5290	PIK3CA	ORPHA:2495
HP:0031910	Abnormal cranial nerve physiology	5290	PIK3CA	ORPHA:99802
HP:0031910	Abnormal cranial nerve physiology	7015	TERT	ORPHA:2495
HP:0031910	Abnormal cranial nerve physiology	51684	SUFU	ORPHA:2495
HP:0031910	Abnormal cranial nerve physiology	6605	SMARCE1	ORPHA:2495
HP:0031910	Abnormal cranial nerve physiology	5590	PRKCZ	ORPHA:1606
HP:0031910	Abnormal cranial nerve physiology	2563	GABRD	ORPHA:1606
HP:0031910	Abnormal cranial nerve physiology	23013	SPEN	ORPHA:1606
HP:0031910	Abnormal cranial nerve physiology	8510	MMP23B	ORPHA:1606
HP:0031910	Abnormal cranial nerve physiology	7798	LUZP1	ORPHA:1606
HP:0031910	Abnormal cranial nerve physiology	6497	SKI	ORPHA:1606
HP:0031910	Abnormal cranial nerve physiology	10630	PDPN	ORPHA:1606
HP:0031910	Abnormal cranial nerve physiology	3339	HSPG2	ORPHA:1606
HP:0031910	Abnormal cranial nerve physiology	10277	UBE4B	ORPHA:1606
HP:0031910	Abnormal cranial nerve physiology	8514	KCNAB2	ORPHA:1606
HP:0031910	Abnormal cranial nerve physiology	63976	PRDM16	ORPHA:1606
HP:0031910	Abnormal cranial nerve physiology	54897	CASZ1	ORPHA:1606
HP:0031910	Abnormal cranial nerve physiology	1493	CTLA4	ORPHA:900
HP:0031910	Abnormal cranial nerve physiology	26191	PTPN22	ORPHA:900
HP:0031910	Abnormal cranial nerve physiology	3115	HLA-DPB1	ORPHA:900
HP:0031910	Abnormal cranial nerve physiology	5657	PRTN3	ORPHA:900
HP:0031910	Abnormal cranial nerve physiology	3113	HLA-DPA1	ORPHA:900
HP:0031910	Abnormal cranial nerve physiology	1776	DNASE1L3	ORPHA:36412
HP:0031910	Abnormal cranial nerve physiology	79581	SLC52A2	OMIM:614707
HP:0031910	Abnormal cranial nerve physiology	1186	CLCN7	ORPHA:667
HP:0031910	Abnormal cranial nerve physiology	1186	CLCN7	ORPHA:53
HP:0031910	Abnormal cranial nerve physiology	29887	SNX10	ORPHA:667
HP:0031910	Abnormal cranial nerve physiology	8600	TNFSF11	ORPHA:667
HP:0031910	Abnormal cranial nerve physiology	54949	SDHAF2	OMIM:601650
HP:0031910	Abnormal cranial nerve physiology	4221	MEN1	ORPHA:2965
HP:0031910	Abnormal cranial nerve physiology	64072	CDH23	ORPHA:2965
HP:0031910	Abnormal cranial nerve physiology	64072	CDH23	ORPHA:91347
HP:0031910	Abnormal cranial nerve physiology	9049	AIP	ORPHA:2965
HP:0031910	Abnormal cranial nerve physiology	9049	AIP	ORPHA:963
HP:0031910	Abnormal cranial nerve physiology	1130	LYST	OMIM:214500
HP:0031910	Abnormal cranial nerve physiology	1130	LYST	ORPHA:167
HP:0031910	Abnormal cranial nerve physiology	6299	SALL1	ORPHA:857
HP:0031910	Abnormal cranial nerve physiology	51339	DACT1	ORPHA:857
HP:0031910	Abnormal cranial nerve physiology	2475	MTOR	ORPHA:99802
HP:0031910	Abnormal cranial nerve physiology	10000	AKT3	ORPHA:99802
HP:0031910	Abnormal cranial nerve physiology	3662	IRF4	ORPHA:3452
HP:0031910	Abnormal cranial nerve physiology	7132	TNFRSF1A	ORPHA:32960
HP:0031910	Abnormal cranial nerve physiology	55636	CHD7	ORPHA:138
HP:0031910	Abnormal cranial nerve physiology	9723	SEMA3E	ORPHA:138
HP:0031910	Abnormal cranial nerve physiology	389827	MYMK	ORPHA:1358
HP:0031910	Abnormal cranial nerve physiology	101929726	MYMX	ORPHA:1358
HP:0031910	Abnormal cranial nerve physiology	114548	NLRP3	ORPHA:575
HP:0031910	Abnormal cranial nerve physiology	5980	REV3L	ORPHA:570
HP:0031910	Abnormal cranial nerve physiology	23129	PLXND1	ORPHA:570
HP:0031910	Abnormal cranial nerve physiology	5745	PTH1R	ORPHA:296
HP:0031910	Abnormal cranial nerve physiology	3418	IDH2	ORPHA:296
HP:0031910	Abnormal cranial nerve physiology	3418	IDH2	ORPHA:163634
HP:0031910	Abnormal cranial nerve physiology	3417	IDH1	ORPHA:296
HP:0031910	Abnormal cranial nerve physiology	3417	IDH1	ORPHA:163634
HP:0031910	Abnormal cranial nerve physiology	22943	DKK1	ORPHA:268882
HP:0031910	Abnormal cranial nerve physiology	672	BRCA1	ORPHA:84
HP:0031910	Abnormal cranial nerve physiology	10459	MAD2L2	ORPHA:84
HP:0031910	Abnormal cranial nerve physiology	7516	XRCC2	ORPHA:84
HP:0031910	Abnormal cranial nerve physiology	29089	UBE2T	ORPHA:84
HP:0031910	Abnormal cranial nerve physiology	675	BRCA2	ORPHA:84
HP:0031910	Abnormal cranial nerve physiology	55120	FANCL	ORPHA:84
HP:0031910	Abnormal cranial nerve physiology	2177	FANCD2	ORPHA:84
HP:0031910	Abnormal cranial nerve physiology	2175	FANCA	ORPHA:84
HP:0031910	Abnormal cranial nerve physiology	2187	FANCB	ORPHA:84
HP:0031910	Abnormal cranial nerve physiology	2176	FANCC	ORPHA:84
HP:0031910	Abnormal cranial nerve physiology	2178	FANCE	ORPHA:84
HP:0031910	Abnormal cranial nerve physiology	2188	FANCF	ORPHA:84
HP:0031910	Abnormal cranial nerve physiology	2189	FANCG	ORPHA:84
HP:0031910	Abnormal cranial nerve physiology	5888	RAD51	ORPHA:84
HP:0031910	Abnormal cranial nerve physiology	5889	RAD51C	ORPHA:84
HP:0031910	Abnormal cranial nerve physiology	55159	RFWD3	ORPHA:84
HP:0031910	Abnormal cranial nerve physiology	83990	BRIP1	ORPHA:84
HP:0031910	Abnormal cranial nerve physiology	57697	FANCM	ORPHA:84
HP:0031910	Abnormal cranial nerve physiology	79728	PALB2	ORPHA:84
HP:0031910	Abnormal cranial nerve physiology	84464	SLX4	ORPHA:84
HP:0031910	Abnormal cranial nerve physiology	2072	ERCC4	ORPHA:84
HP:0031910	Abnormal cranial nerve physiology	55215	FANCI	ORPHA:84
HP:0031910	Abnormal cranial nerve physiology	83550	GPR101	ORPHA:963
HP:0031910	Abnormal cranial nerve physiology	5376	PMP22	ORPHA:640
HP:0031910	Abnormal cranial nerve physiology	157570	ESCO2	OMIM:268300
HP:0031910	Abnormal cranial nerve physiology	4615	MYD88	ORPHA:33226
HP:0031910	Abnormal cranial nerve physiology	5728	PTEN	ORPHA:65285
HP:0031910	Abnormal cranial nerve physiology	4893	NRAS	OMIM:249400
HP:0031910	Abnormal cranial nerve physiology	91147	TMEM67	ORPHA:140976
HP:0031910	Abnormal cranial nerve physiology	8792	TNFRSF11A	OMIM:602080
HP:0031910	Abnormal cranial nerve physiology	3145	HMBS	ORPHA:79276
HP:0031910	Abnormal cranial nerve physiology	113278	SLC52A3	OMIM:211530
HP:0031910	Abnormal cranial nerve physiology	760	CA2	ORPHA:2785
HP:0031910	Abnormal cranial nerve physiology	149233	IL23R	ORPHA:117
HP:0031910	Abnormal cranial nerve physiology	6775	STAT4	ORPHA:117
HP:0031910	Abnormal cranial nerve physiology	3586	IL10	ORPHA:117
HP:0031910	Abnormal cranial nerve physiology	4210	MEFV	ORPHA:117
HP:0031910	Abnormal cranial nerve physiology	1230	CCR1	ORPHA:117
HP:0031910	Abnormal cranial nerve physiology	355	FAS	ORPHA:117
HP:0031910	Abnormal cranial nerve physiology	3592	IL12A	ORPHA:117
HP:0031910	Abnormal cranial nerve physiology	101928376	IL12A-AS1	ORPHA:117
HP:0031910	Abnormal cranial nerve physiology	3106	HLA-B	ORPHA:117
HP:0031910	Abnormal cranial nerve physiology	7099	TLR4	ORPHA:117
HP:0031910	Abnormal cranial nerve physiology	3459	IFNGR1	ORPHA:117
HP:0031910	Abnormal cranial nerve physiology	720	C4A	ORPHA:117
HP:0031910	Abnormal cranial nerve physiology	337867	UBAC2	ORPHA:117
HP:0031910	Abnormal cranial nerve physiology	51752	ERAP1	ORPHA:117
HP:0031910	Abnormal cranial nerve physiology	8302	KLRC4	ORPHA:117
HP:0031910	Abnormal cranial nerve physiology	4000	LMNA	ORPHA:2348
HP:0031910	Abnormal cranial nerve physiology	22	ABCB7	OMIM:301310
HP:0031910	Abnormal cranial nerve physiology	80232	WDR26	ORPHA:513456
HP:0031910	Abnormal cranial nerve physiology	23102	TBC1D2B	ORPHA:397973
HP:0031910	Abnormal cranial nerve physiology	128240	NAXE	OMIM:617186
HP:0031910	Abnormal cranial nerve physiology	59341	TRPV4	OMIM:606071
HP:0031910	Abnormal cranial nerve physiology	59341	TRPV4	OMIM:181405
HP:0031910	Abnormal cranial nerve physiology	51244	CCDC174	OMIM:616816
HP:0031910	Abnormal cranial nerve physiology	5660	PSAP	OMIM:610539
HP:0031910	Abnormal cranial nerve physiology	5621	PRNP	ORPHA:282166
HP:0031910	Abnormal cranial nerve physiology	58	ACTA1	ORPHA:97240
HP:0031910	Abnormal cranial nerve physiology	58	ACTA1	ORPHA:171436
HP:0031910	Abnormal cranial nerve physiology	58	ACTA1	ORPHA:171433
HP:0031910	Abnormal cranial nerve physiology	58	ACTA1	ORPHA:171430
HP:0031910	Abnormal cranial nerve physiology	58	ACTA1	OMIM:616852
HP:0031910	Abnormal cranial nerve physiology	58	ACTA1	OMIM:161800
HP:0031910	Abnormal cranial nerve physiology	50964	SOST	OMIM:269500
HP:0031910	Abnormal cranial nerve physiology	50964	SOST	ORPHA:3416
HP:0031910	Abnormal cranial nerve physiology	50964	SOST	ORPHA:3152
HP:0031910	Abnormal cranial nerve physiology	274	BIN1	ORPHA:169186
HP:0031910	Abnormal cranial nerve physiology	274	BIN1	OMIM:255200
HP:0031910	Abnormal cranial nerve physiology	10290	SPEG	ORPHA:169186
HP:0031910	Abnormal cranial nerve physiology	6261	RYR1	ORPHA:169186
HP:0031910	Abnormal cranial nerve physiology	6261	RYR1	OMIM:255320
HP:0031910	Abnormal cranial nerve physiology	6261	RYR1	ORPHA:178145
HP:0031910	Abnormal cranial nerve physiology	6261	RYR1	ORPHA:98905
HP:0031910	Abnormal cranial nerve physiology	7273	TTN	ORPHA:169186
HP:0031910	Abnormal cranial nerve physiology	291	SLC25A4	ORPHA:254892
HP:0031910	Abnormal cranial nerve physiology	291	SLC25A4	OMIM:609283
HP:0031910	Abnormal cranial nerve physiology	5428	POLG	ORPHA:254892
HP:0031910	Abnormal cranial nerve physiology	5428	POLG	OMIM:258450
HP:0031910	Abnormal cranial nerve physiology	5428	POLG	ORPHA:254886
HP:0031910	Abnormal cranial nerve physiology	5428	POLG	OMIM:157640
HP:0031910	Abnormal cranial nerve physiology	56652	TWNK	ORPHA:254892
HP:0031910	Abnormal cranial nerve physiology	11232	POLG2	ORPHA:254892
HP:0031910	Abnormal cranial nerve physiology	11232	POLG2	OMIM:610131
HP:0031910	Abnormal cranial nerve physiology	50484	RRM2B	ORPHA:254892
HP:0031910	Abnormal cranial nerve physiology	22827	PUF60	ORPHA:508498
HP:0031910	Abnormal cranial nerve physiology	55906	ZC4H2	OMIM:301041
HP:0031910	Abnormal cranial nerve physiology	55906	ZC4H2	OMIM:314580
HP:0031910	Abnormal cranial nerve physiology	1145	CHRNE	OMIM:608931
HP:0031910	Abnormal cranial nerve physiology	1145	CHRNE	ORPHA:98913
HP:0031910	Abnormal cranial nerve physiology	2673	GFPT1	OMIM:608931
HP:0031910	Abnormal cranial nerve physiology	2673	GFPT1	ORPHA:353327
HP:0031910	Abnormal cranial nerve physiology	2673	GFPT1	OMIM:610542
HP:0031910	Abnormal cranial nerve physiology	1144	CHRND	OMIM:616322
HP:0031910	Abnormal cranial nerve physiology	1144	CHRND	OMIM:616323
HP:0031910	Abnormal cranial nerve physiology	1144	CHRND	ORPHA:98913
HP:0031910	Abnormal cranial nerve physiology	56203	LMOD3	OMIM:616165
HP:0031910	Abnormal cranial nerve physiology	56203	LMOD3	ORPHA:171436
HP:0031910	Abnormal cranial nerve physiology	56203	LMOD3	ORPHA:171430
HP:0031910	Abnormal cranial nerve physiology	2697	GJA1	ORPHA:1522
HP:0031910	Abnormal cranial nerve physiology	2697	GJA1	OMIM:218400
HP:0031910	Abnormal cranial nerve physiology	56172	ANKH	ORPHA:1522
HP:0031910	Abnormal cranial nerve physiology	56172	ANKH	OMIM:123000
HP:0031910	Abnormal cranial nerve physiology	1305	COL13A1	OMIM:616720
HP:0031910	Abnormal cranial nerve physiology	1305	COL13A1	ORPHA:98913
HP:0031910	Abnormal cranial nerve physiology	23394	ADNP	OMIM:615873
HP:0031910	Abnormal cranial nerve physiology	400916	CHCHD10	OMIM:616209
HP:0031910	Abnormal cranial nerve physiology	4038	LRP4	OMIM:614305
HP:0031910	Abnormal cranial nerve physiology	4038	LRP4	ORPHA:98913
HP:0031910	Abnormal cranial nerve physiology	4038	LRP4	ORPHA:3152
HP:0031910	Abnormal cranial nerve physiology	7415	VCP	OMIM:167320
HP:0031910	Abnormal cranial nerve physiology	1134	CHRNA1	OMIM:608930
HP:0031910	Abnormal cranial nerve physiology	1134	CHRNA1	ORPHA:98913
HP:0031910	Abnormal cranial nerve physiology	4747	NEFL	OMIM:607684
HP:0031910	Abnormal cranial nerve physiology	825	CAPN3	OMIM:253600
HP:0031910	Abnormal cranial nerve physiology	10049	DNAJB6	OMIM:603511
HP:0031910	Abnormal cranial nerve physiology	1120	CHKB	OMIM:602541
HP:0031910	Abnormal cranial nerve physiology	57165	GJC2	OMIM:608804
HP:0031910	Abnormal cranial nerve physiology	7169	TPM2	ORPHA:171436
HP:0031910	Abnormal cranial nerve physiology	7169	TPM2	ORPHA:171881
HP:0031910	Abnormal cranial nerve physiology	4703	NEB	ORPHA:171436
HP:0031910	Abnormal cranial nerve physiology	4703	NEB	ORPHA:171433
HP:0031910	Abnormal cranial nerve physiology	4703	NEB	ORPHA:171430
HP:0031910	Abnormal cranial nerve physiology	10324	KLHL41	ORPHA:171436
HP:0031910	Abnormal cranial nerve physiology	10324	KLHL41	ORPHA:171433
HP:0031910	Abnormal cranial nerve physiology	10324	KLHL41	ORPHA:171430
HP:0031910	Abnormal cranial nerve physiology	1073	CFL2	ORPHA:171436
HP:0031910	Abnormal cranial nerve physiology	60482	SLC5A7	OMIM:617143
HP:0031910	Abnormal cranial nerve physiology	7084	TK2	ORPHA:254886
HP:0031910	Abnormal cranial nerve physiology	92667	MGME1	OMIM:615084
HP:0031910	Abnormal cranial nerve physiology	7170	TPM3	ORPHA:171433
HP:0031910	Abnormal cranial nerve physiology	7170	TPM3	ORPHA:171881
HP:0031910	Abnormal cranial nerve physiology	7170	TPM3	OMIM:255310
HP:0031910	Abnormal cranial nerve physiology	29998	BICRA	OMIM:619325
HP:0031910	Abnormal cranial nerve physiology	131377	KLHL40	ORPHA:171430
HP:0031910	Abnormal cranial nerve physiology	131377	KLHL40	OMIM:615348
HP:0031910	Abnormal cranial nerve physiology	9790	BMS1	ORPHA:1114
HP:0031910	Abnormal cranial nerve physiology	5339	PLEC	ORPHA:1114
HP:0031910	Abnormal cranial nerve physiology	10054	UBA2	ORPHA:1114
HP:0031910	Abnormal cranial nerve physiology	3691	ITGB4	ORPHA:1114
HP:0031910	Abnormal cranial nerve physiology	54567	DLL4	ORPHA:1114
HP:0031910	Abnormal cranial nerve physiology	4041	LRP5	ORPHA:3416
HP:0031910	Abnormal cranial nerve physiology	4041	LRP5	ORPHA:2790
HP:0031910	Abnormal cranial nerve physiology	4041	LRP5	ORPHA:178377
HP:0031910	Abnormal cranial nerve physiology	84466	MEGF10	OMIM:614399
HP:0031910	Abnormal cranial nerve physiology	3908	LAMA2	ORPHA:258
HP:0031910	Abnormal cranial nerve physiology	4625	MYH7	OMIM:160500
HP:0031910	Abnormal cranial nerve physiology	29925	GMPPB	ORPHA:353327
HP:0031910	Abnormal cranial nerve physiology	29925	GMPPB	ORPHA:370968
HP:0031910	Abnormal cranial nerve physiology	1798	DPAGT1	ORPHA:353327
HP:0031910	Abnormal cranial nerve physiology	85365	ALG2	ORPHA:353327
HP:0031910	Abnormal cranial nerve physiology	199857	ALG14	ORPHA:353327
HP:0031910	Abnormal cranial nerve physiology	427	ASAH1	OMIM:159950
HP:0031910	Abnormal cranial nerve physiology	79147	FKRP	ORPHA:370968
HP:0031910	Abnormal cranial nerve physiology	79147	FKRP	OMIM:606612
HP:0031910	Abnormal cranial nerve physiology	29954	POMT2	ORPHA:370968
HP:0031910	Abnormal cranial nerve physiology	29954	POMT2	OMIM:613156
HP:0031910	Abnormal cranial nerve physiology	9215	LARGE1	ORPHA:370968
HP:0031910	Abnormal cranial nerve physiology	9215	LARGE1	OMIM:608840
HP:0031910	Abnormal cranial nerve physiology	10585	POMT1	ORPHA:370968
HP:0031910	Abnormal cranial nerve physiology	10585	POMT1	OMIM:613155
HP:0031910	Abnormal cranial nerve physiology	57190	SELENON	OMIM:602771
HP:0031910	Abnormal cranial nerve physiology	51816	ADA2	OMIM:182410
HP:0031910	Abnormal cranial nerve physiology	10735	STAG2	OMIM:301022
HP:0031910	Abnormal cranial nerve physiology	2483	FRG1	OMIM:158900
HP:0031910	Abnormal cranial nerve physiology	23347	SMCHD1	OMIM:158901
HP:0031910	Abnormal cranial nerve physiology	8878	SQSTM1	OMIM:617158
HP:0031910	Abnormal cranial nerve physiology	84665	MYPN	ORPHA:171881
HP:0031910	Abnormal cranial nerve physiology	84665	MYPN	OMIM:617336
HP:0031910	Abnormal cranial nerve physiology	10381	TUBB3	OMIM:600638
HP:0031910	Abnormal cranial nerve physiology	22954	TRIM32	OMIM:254110
HP:0031910	Abnormal cranial nerve physiology	56244	BTNL2	OMIM:612387
HP:0031910	Abnormal cranial nerve physiology	56244	BTNL2	ORPHA:797
HP:0031910	Abnormal cranial nerve physiology	29967	LRP12	OMIM:164310
HP:0031910	Abnormal cranial nerve physiology	1292	COL6A2	OMIM:255600
HP:0031910	Abnormal cranial nerve physiology	10020	GNE	ORPHA:602
HP:0031910	Abnormal cranial nerve physiology	7020	TFAP2A	OMIM:113620
HP:0031910	Abnormal cranial nerve physiology	51651	PTRH2	ORPHA:456312
HP:0031910	Abnormal cranial nerve physiology	1303	COL12A1	OMIM:616470
HP:0031910	Abnormal cranial nerve physiology	7317	UBA1	OMIM:301830
HP:0031910	Abnormal cranial nerve physiology	390594	KBTBD13	OMIM:609273
HP:0031910	Abnormal cranial nerve physiology	139285	AMER1	ORPHA:2780
HP:0031910	Abnormal cranial nerve physiology	139285	AMER1	OMIM:300373
HP:0031910	Abnormal cranial nerve physiology	9531	BAG3	OMIM:612954
HP:0031910	Abnormal cranial nerve physiology	9244	CRLF1	OMIM:272430
HP:0031910	Abnormal cranial nerve physiology	3123	HLA-DRB1	ORPHA:797
HP:0031910	Abnormal cranial nerve physiology	84617	TUBB6	OMIM:617732
HP:0031910	Abnormal cranial nerve physiology	9791	PTDSS1	ORPHA:2658
HP:0031910	Abnormal cranial nerve physiology	3211	HOXB1	OMIM:614744
HP:0031910	Abnormal cranial nerve physiology	4534	MTM1	OMIM:310400
HP:0031910	Abnormal cranial nerve physiology	7040	TGFB1	ORPHA:1328
HP:0031910	Abnormal cranial nerve physiology	8085	KMT2D	OMIM:620186
HP:0031910	Abnormal cranial nerve physiology	80704	SLC19A3	OMIM:607483
HP:0031910	Abnormal cranial nerve physiology	8898	MTMR2	OMIM:601382
HP:0031910	Abnormal cranial nerve physiology	64419	MTMR14	OMIM:160150
HP:0031910	Abnormal cranial nerve physiology	1785	DNM2	OMIM:160150
HP:0031910	Abnormal cranial nerve physiology	2934	GSN	ORPHA:85448
HP:0031910	Abnormal cranial nerve physiology	23095	KIF1B	OMIM:118210
HP:0031910	Abnormal cranial nerve physiology	1674	DES	OMIM:601419
HP:0031910	Abnormal cranial nerve physiology	8292	COLQ	ORPHA:98915
HP:0031910	Abnormal cranial nerve physiology	3913	LAMB2	ORPHA:98915
HP:0031910	Abnormal cranial nerve physiology	6444	SGCD	ORPHA:219
HP:0031910	Abnormal cranial nerve physiology	23516	SLC39A14	OMIM:144755
HP:0031910	Abnormal cranial nerve physiology	8106	PABPN1	OMIM:164300
HP:0031910	Abnormal cranial nerve physiology	6329	SCN4A	ORPHA:98913
HP:0031910	Abnormal cranial nerve physiology	1140	CHRNB1	ORPHA:98913
HP:0031910	Abnormal cranial nerve physiology	1140	CHRNB1	OMIM:616313
HP:0031910	Abnormal cranial nerve physiology	4593	MUSK	ORPHA:98913
HP:0031910	Abnormal cranial nerve physiology	5913	RAPSN	ORPHA:98913
HP:0031910	Abnormal cranial nerve physiology	375790	AGRN	ORPHA:98913
HP:0031910	Abnormal cranial nerve physiology	221264	AK9	ORPHA:98913
HP:0031910	Abnormal cranial nerve physiology	285489	DOK7	ORPHA:98913
HP:0031910	Abnormal cranial nerve physiology	55670	PEX26	ORPHA:772
HP:0031910	Abnormal cranial nerve physiology	5824	PEX19	ORPHA:772
HP:0031910	Abnormal cranial nerve physiology	5828	PEX2	ORPHA:772
HP:0031910	Abnormal cranial nerve physiology	8504	PEX3	ORPHA:772
HP:0031910	Abnormal cranial nerve physiology	9409	PEX16	ORPHA:772
HP:0031910	Abnormal cranial nerve physiology	5190	PEX6	ORPHA:772
HP:0031910	Abnormal cranial nerve physiology	8799	PEX11B	ORPHA:772
HP:0031910	Abnormal cranial nerve physiology	5830	PEX5	ORPHA:772
HP:0031910	Abnormal cranial nerve physiology	5189	PEX1	ORPHA:772
HP:0031910	Abnormal cranial nerve physiology	5193	PEX12	ORPHA:772
HP:0031910	Abnormal cranial nerve physiology	5194	PEX13	ORPHA:772
HP:0031910	Abnormal cranial nerve physiology	5195	PEX14	ORPHA:772
HP:0031910	Abnormal cranial nerve physiology	5192	PEX10	ORPHA:772
HP:0031910	Abnormal cranial nerve physiology	339855	KY	OMIM:617114
HP:0031910	Abnormal cranial nerve physiology	84168	ANTXR1	OMIM:230740
HP:0031910	Abnormal cranial nerve physiology	57731	SPTBN4	OMIM:617519
HP:0031910	Abnormal cranial nerve physiology	64127	NOD2	ORPHA:90340
HP:0031910	Abnormal cranial nerve physiology	8139	GAN	ORPHA:643
HP:0031910	Abnormal cranial nerve physiology	8139	GAN	OMIM:256850
HP:0031910	Abnormal cranial nerve physiology	79628	SH3TC2	OMIM:601596
HP:0031910	Abnormal cranial nerve physiology	4633	MYL2	OMIM:619424
HP:0031910	Abnormal cranial nerve physiology	203859	ANO5	OMIM:611307
HP:0031910	Abnormal cranial nerve physiology	203859	ANO5	ORPHA:206549
HP:0031910	Abnormal cranial nerve physiology	1861	TOR1A	OMIM:128100
HP:0031910	Abnormal cranial nerve physiology	54658	UGT1A1	ORPHA:79234
HP:0031910	Abnormal cranial nerve physiology	55901	THSD1	ORPHA:231160
HP:0031910	Abnormal cranial nerve physiology	7049	TGFBR3	ORPHA:231160
HP:0031910	Abnormal cranial nerve physiology	1281	COL3A1	ORPHA:231160
HP:0031910	Abnormal cranial nerve physiology	83854	ANGPTL6	ORPHA:231160
HP:0031910	Abnormal cranial nerve physiology	2022	ENG	ORPHA:231160
HP:0031910	Abnormal cranial nerve physiology	11198	SUPT16H	OMIM:619480
HP:0031910	Abnormal cranial nerve physiology	3098	HK1	OMIM:618547
HP:0031910	Abnormal cranial nerve physiology	4010	LMX1B	ORPHA:2614
HP:0031910	Abnormal cranial nerve physiology	10342	TFG	ORPHA:90117
HP:0031910	Abnormal cranial nerve physiology	473	RERE	ORPHA:494344
HP:0031910	Abnormal cranial nerve physiology	1291	COL6A1	OMIM:158810
HP:0031910	Abnormal cranial nerve physiology	57167	SALL4	ORPHA:233
HP:0031910	Abnormal cranial nerve physiology	9935	MAFB	ORPHA:233
HP:0031910	Abnormal cranial nerve physiology	1123	CHN1	ORPHA:233
HP:0031910	Abnormal cranial nerve physiology	2138	EYA1	OMIM:113650
HP:0031910	Abnormal cranial nerve physiology	2138	EYA1	ORPHA:107
HP:0031910	Abnormal cranial nerve physiology	6495	SIX1	OMIM:113650
HP:0031910	Abnormal cranial nerve physiology	6495	SIX1	ORPHA:107
HP:0031910	Abnormal cranial nerve physiology	147912	SIX5	ORPHA:107
HP:0031910	Abnormal cranial nerve physiology	3708	ITPR1	OMIM:117360
HP:0031910	Abnormal cranial nerve physiology	23345	SYNE1	ORPHA:319332
HP:0031911	Abnormal fifth cranial nerve physiology	5621	PRNP	ORPHA:282166
HP:0031911	Abnormal fifth cranial nerve physiology	79628	SH3TC2	ORPHA:99949
HP:0031911	Abnormal fifth cranial nerve physiology	8314	BAP1	ORPHA:2495
HP:0031911	Abnormal fifth cranial nerve physiology	4771	NF2	ORPHA:2495
HP:0031911	Abnormal fifth cranial nerve physiology	6598	SMARCB1	ORPHA:2495
HP:0031911	Abnormal fifth cranial nerve physiology	5155	PDGFB	ORPHA:2495
HP:0031911	Abnormal fifth cranial nerve physiology	84231	TRAF7	ORPHA:2495
HP:0031911	Abnormal fifth cranial nerve physiology	6608	SMO	ORPHA:2495
HP:0031911	Abnormal fifth cranial nerve physiology	207	AKT1	ORPHA:2495
HP:0031911	Abnormal fifth cranial nerve physiology	5290	PIK3CA	ORPHA:2495
HP:0031911	Abnormal fifth cranial nerve physiology	7015	TERT	ORPHA:2495
HP:0031911	Abnormal fifth cranial nerve physiology	51684	SUFU	ORPHA:2495
HP:0031911	Abnormal fifth cranial nerve physiology	6605	SMARCE1	ORPHA:2495
HP:0031913	Rhombencephalosynapsis	55770	EXOC2	OMIM:619306
HP:0031913	Rhombencephalosynapsis	28514	DLL1	ORPHA:280195
HP:0031913	Rhombencephalosynapsis	2253	FGF8	ORPHA:280195
HP:0031913	Rhombencephalosynapsis	6496	SIX3	ORPHA:280195
HP:0031913	Rhombencephalosynapsis	7050	TGIF1	ORPHA:280195
HP:0031913	Rhombencephalosynapsis	4838	NODAL	ORPHA:280195
HP:0031913	Rhombencephalosynapsis	6469	SHH	ORPHA:280195
HP:0031913	Rhombencephalosynapsis	7546	ZIC2	ORPHA:280195
HP:0031913	Rhombencephalosynapsis	6491	STIL	ORPHA:280195
HP:0031913	Rhombencephalosynapsis	2619	GAS1	ORPHA:280195
HP:0031913	Rhombencephalosynapsis	84976	DISP1	ORPHA:280195
HP:0031913	Rhombencephalosynapsis	2736	GLI2	ORPHA:280195
HP:0031913	Rhombencephalosynapsis	8928	FOXH1	ORPHA:280195
HP:0031913	Rhombencephalosynapsis	6997	CRIPTO	ORPHA:280195
HP:0031913	Rhombencephalosynapsis	5727	PTCH1	ORPHA:280195
HP:0031913	Rhombencephalosynapsis	50937	CDON	ORPHA:280195
HP:0031917	Digital ulcer	22948	CCT5	OMIM:256840
HP:0031917	Digital ulcer	22948	CCT5	ORPHA:139578
HP:0031917	Digital ulcer	547	KIF1A	OMIM:614213
HP:0031917	Digital ulcer	547	KIF1A	OMIM:201300
HP:0031917	Digital ulcer	10558	SPTLC1	OMIM:162400
HP:0031917	Digital ulcer	4358	MPV17	OMIM:256810
HP:0031917	Digital ulcer	4914	NTRK1	OMIM:256800
HP:0031917	Digital ulcer	54463	RETREG1	OMIM:613115
HP:0031917	Digital ulcer	54463	RETREG1	OMIM:201300
HP:0031917	Digital ulcer	65125	WNK1	OMIM:201300
HP:0031917	Digital ulcer	6335	SCN9A	OMIM:201300
HP:0031917	Digital ulcer	4803	NGF	OMIM:608654
HP:0031918	Ovarian sex cord-stromal tumor	23405	DICER1	OMIM:180295
HP:0031918	Ovarian sex cord-stromal tumor	8930	MBD4	OMIM:619975
HP:0031919	Juvenile type ovarian granulosa cell tumor	8930	MBD4	OMIM:619975
HP:0031921	Gastrocnemius myalgia	400916	CHCHD10	ORPHA:276435
HP:0031923	Hematocolpos	7750	ZMYM2	OMIM:619522
HP:0031931	Ocular flutter	6531	SLC6A3	OMIM:613135
HP:0031931	Ocular flutter	773	CACNA1A	ORPHA:2131
HP:0031931	Ocular flutter	6507	SLC1A3	ORPHA:2131
HP:0031931	Ocular flutter	477	ATP1A2	ORPHA:2131
HP:0031931	Ocular flutter	478	ATP1A3	ORPHA:2131
HP:0031931	Ocular flutter	7355	SLC35A2	OMIM:300896
HP:0031935	Ascending aorta hypoplasia	2783	GNB2	OMIM:619503
HP:0031936	Delayed ability to walk	6095	RORA	OMIM:618060
HP:0031936	Delayed ability to walk	4359	MPZ	OMIM:618184
HP:0031936	Delayed ability to walk	7528	YY1	ORPHA:506358
HP:0031936	Delayed ability to walk	8036	SHOC2	OMIM:607721
HP:0031936	Delayed ability to walk	26960	NBEA	OMIM:619157
HP:0031936	Delayed ability to walk	104	ADARB1	OMIM:618862
HP:0031936	Delayed ability to walk	9853	RUSC2	OMIM:617773
HP:0031936	Delayed ability to walk	23241	PACS2	OMIM:618067
HP:0031936	Delayed ability to walk	27247	NFU1	OMIM:620938
HP:0031936	Delayed ability to walk	6659	SOX4	OMIM:618506
HP:0031936	Delayed ability to walk	10973	ASCC3	OMIM:620700
HP:0031936	Delayed ability to walk	7109	TRAPPC10	OMIM:620027
HP:0031936	Delayed ability to walk	3190	HNRNPK	ORPHA:453504
HP:0031936	Delayed ability to walk	3190	HNRNPK	ORPHA:352665
HP:0031936	Delayed ability to walk	2617	GARS1	OMIM:619042
HP:0031936	Delayed ability to walk	4983	OPHN1	OMIM:300486
HP:0031936	Delayed ability to walk	10743	RAI1	ORPHA:477817
HP:0031936	Delayed ability to walk	80232	WDR26	ORPHA:513456
HP:0031936	Delayed ability to walk	80232	WDR26	OMIM:617616
HP:0031936	Delayed ability to walk	54344	DPM3	OMIM:618992
HP:0031936	Delayed ability to walk	3020	H3-3A	OMIM:619720
HP:0031936	Delayed ability to walk	80816	ASXL3	OMIM:615485
HP:0031936	Delayed ability to walk	6576	SLC25A1	OMIM:618197
HP:0031936	Delayed ability to walk	4649	MYO9A	OMIM:618198
HP:0031936	Delayed ability to walk	6616	SNAP25	OMIM:616330
HP:0031936	Delayed ability to walk	283489	CHAMP1	OMIM:616579
HP:0031936	Delayed ability to walk	27245	AHDC1	ORPHA:412069
HP:0031936	Delayed ability to walk	55904	KMT2E	OMIM:618512
HP:0031936	Delayed ability to walk	3145	HMBS	OMIM:620711
HP:0031936	Delayed ability to walk	10501	SEMA6B	OMIM:618876
HP:0031936	Delayed ability to walk	80055	PGAP1	OMIM:615802
HP:0031936	Delayed ability to walk	318	NUDT2	OMIM:619844
HP:0031936	Delayed ability to walk	128486	FITM2	OMIM:618635
HP:0031936	Delayed ability to walk	28960	DCPS	OMIM:616459
HP:0031936	Delayed ability to walk	27102	EIF2AK1	OMIM:618878
HP:0031936	Delayed ability to walk	23431	AP4E1	OMIM:613744
HP:0031936	Delayed ability to walk	25782	RAB3GAP2	OMIM:212720
HP:0031936	Delayed ability to walk	79158	GNPTAB	OMIM:252500
HP:0031936	Delayed ability to walk	9382	COG1	OMIM:611209
HP:0031936	Delayed ability to walk	2192	FBLN1	ORPHA:404451
HP:0031936	Delayed ability to walk	6595	SMARCA2	OMIM:619293
HP:0031936	Delayed ability to walk	8029	CUBN	ORPHA:35858
HP:0031936	Delayed ability to walk	81693	AMN	ORPHA:35858
HP:0031936	Delayed ability to walk	83696	TRAPPC9	OMIM:613192
HP:0031936	Delayed ability to walk	4001	LMNB1	OMIM:619179
HP:0031936	Delayed ability to walk	23321	TRIM2	OMIM:615490
HP:0031936	Delayed ability to walk	2590	GALNT2	OMIM:618885
HP:0031936	Delayed ability to walk	57492	ARID1B	OMIM:135900
HP:0031936	Delayed ability to walk	9698	PUM1	OMIM:620719
HP:0031936	Delayed ability to walk	80204	FBXO11	OMIM:618089
HP:0031936	Delayed ability to walk	535	ATP6V0A1	OMIM:619970
HP:0031936	Delayed ability to walk	5119	CHMP1A	OMIM:614961
HP:0031936	Delayed ability to walk	1292	COL6A2	OMIM:620727
HP:0031936	Delayed ability to walk	815	CAMK2A	OMIM:617798
HP:0031936	Delayed ability to walk	7436	VLDLR	OMIM:224050
HP:0031936	Delayed ability to walk	2770	GNAI1	OMIM:619854
HP:0031936	Delayed ability to walk	23325	WASHC4	OMIM:615817
HP:0031936	Delayed ability to walk	10716	TBR1	OMIM:606053
HP:0031936	Delayed ability to walk	157680	VPS13B	OMIM:216550
HP:0031936	Delayed ability to walk	26523	AGO1	OMIM:620292
HP:0031936	Delayed ability to walk	9839	ZEB2	ORPHA:261552
HP:0031936	Delayed ability to walk	9839	ZEB2	ORPHA:261537
HP:0031936	Delayed ability to walk	84823	LMNB2	OMIM:619180
HP:0031936	Delayed ability to walk	64919	BCL11B	OMIM:618092
HP:0031936	Delayed ability to walk	1303	COL12A1	OMIM:616471
HP:0031936	Delayed ability to walk	1303	COL12A1	ORPHA:536516
HP:0031936	Delayed ability to walk	55703	POLR3B	OMIM:619742
HP:0031936	Delayed ability to walk	23203	PMPCA	ORPHA:1170
HP:0031936	Delayed ability to walk	23203	PMPCA	OMIM:213200
HP:0031936	Delayed ability to walk	88	ACTN2	OMIM:618654
HP:0031936	Delayed ability to walk	5528	PPP2R5D	OMIM:616355
HP:0031936	Delayed ability to walk	5528	PPP2R5D	ORPHA:457279
HP:0031936	Delayed ability to walk	5833	PCYT2	OMIM:618770
HP:0031936	Delayed ability to walk	1293	COL6A3	OMIM:620728
HP:0031936	Delayed ability to walk	54872	PIGG	ORPHA:488635
HP:0031936	Delayed ability to walk	1954	MEGF8	OMIM:614976
HP:0031936	Delayed ability to walk	11160	ERLIN2	OMIM:611225
HP:0031936	Delayed ability to walk	6602	SMARCD1	OMIM:618779
HP:0031936	Delayed ability to walk	284439	SLC25A42	OMIM:618416
HP:0031936	Delayed ability to walk	26834	RNU4-2	OMIM:620851
HP:0031936	Delayed ability to walk	9711	RUBCN	OMIM:615705
HP:0031936	Delayed ability to walk	1576	CYP3A4	OMIM:619073
HP:0031936	Delayed ability to walk	2615	LRRC32	OMIM:619074
HP:0031936	Delayed ability to walk	4953	ODC1	OMIM:619075
HP:0031936	Delayed ability to walk	7840	ALMS1	ORPHA:64
HP:0031936	Delayed ability to walk	10585	POMT1	OMIM:609308
HP:0031936	Delayed ability to walk	7809	BSND	ORPHA:89938
HP:0031936	Delayed ability to walk	1188	CLCNKB	ORPHA:89938
HP:0031936	Delayed ability to walk	1187	CLCNKA	ORPHA:89938
HP:0031936	Delayed ability to walk	113612	CYP2U1	OMIM:615030
HP:0031936	Delayed ability to walk	5251	PHEX	ORPHA:89936
HP:0031936	Delayed ability to walk	5251	PHEX	OMIM:307800
HP:0031936	Delayed ability to walk	253738	EBF3	OMIM:617330
HP:0031936	Delayed ability to walk	55621	TRMT1	OMIM:618302
HP:0031936	Delayed ability to walk	10717	AP4B1	OMIM:614066
HP:0031936	Delayed ability to walk	11154	AP4S1	OMIM:614067
HP:0031936	Delayed ability to walk	7862	BRPF1	OMIM:617333
HP:0031936	Delayed ability to walk	8558	CDK10	OMIM:617694
HP:0031936	Delayed ability to walk	5063	PAK3	OMIM:300558
HP:0031936	Delayed ability to walk	1182	CLCN3	OMIM:619517
HP:0031936	Delayed ability to walk	57863	CADM3	OMIM:619519
HP:0031936	Delayed ability to walk	92609	TIMM50	OMIM:617698
HP:0031936	Delayed ability to walk	92609	TIMM50	ORPHA:505216
HP:0031936	Delayed ability to walk	3098	HK1	OMIM:618547
HP:0031936	Delayed ability to walk	84720	PIGO	OMIM:614749
HP:0031936	Delayed ability to walk	1650	DDOST	OMIM:614507
HP:0031936	Delayed ability to walk	7337	UBE3A	OMIM:105830
HP:0031936	Delayed ability to walk	7337	UBE3A	ORPHA:411515
HP:0031936	Delayed ability to walk	6638	SNRPN	OMIM:105830
HP:0031936	Delayed ability to walk	6638	SNRPN	ORPHA:411515
HP:0031936	Delayed ability to walk	5354	PLP1	ORPHA:280219
HP:0031936	Delayed ability to walk	22859	ADGRL1	OMIM:620065
HP:0031936	Delayed ability to walk	6558	SLC12A2	OMIM:619083
HP:0031936	Delayed ability to walk	111	ADCY5	OMIM:606703
HP:0031936	Delayed ability to walk	111	ADCY5	OMIM:619651
HP:0031936	Delayed ability to walk	283209	PGM2L1	OMIM:620191
HP:0031936	Delayed ability to walk	2521	FUS	ORPHA:300605
HP:0031936	Delayed ability to walk	80208	SPG11	ORPHA:300605
HP:0031936	Delayed ability to walk	10280	SIGMAR1	ORPHA:300605
HP:0031936	Delayed ability to walk	10558	SPTLC1	ORPHA:300605
HP:0031936	Delayed ability to walk	57679	ALS2	ORPHA:300605
HP:0031936	Delayed ability to walk	9533	POLR1C	OMIM:616494
HP:0031936	Delayed ability to walk	6261	RYR1	OMIM:117000
HP:0031936	Delayed ability to walk	6261	RYR1	OMIM:619542
HP:0031936	Delayed ability to walk	53335	BCL11A	OMIM:617101
HP:0031936	Delayed ability to walk	9474	ATG5	OMIM:617584
HP:0031936	Delayed ability to walk	4849	CNOT3	OMIM:618672
HP:0031936	Delayed ability to walk	6942	TCF20	OMIM:618430
HP:0031936	Delayed ability to walk	22	ABCB7	ORPHA:2802
HP:0031936	Delayed ability to walk	2542	SLC37A4	OMIM:619525
HP:0031936	Delayed ability to walk	3708	ITPR1	OMIM:117360
HP:0031936	Delayed ability to walk	3708	ITPR1	OMIM:206700
HP:0031936	Delayed ability to walk	9772	TMEM94	OMIM:618316
HP:0031936	Delayed ability to walk	57466	SCAF4	OMIM:620511
HP:0031936	Delayed ability to walk	57104	PNPLA2	OMIM:610717
HP:0031936	Delayed ability to walk	10430	TMEM147	OMIM:620075
HP:0031936	Delayed ability to walk	11152	WDR45	OMIM:300894
HP:0031936	Delayed ability to walk	4677	NARS1	OMIM:619091
HP:0031936	Delayed ability to walk	4677	NARS1	OMIM:619092
HP:0031936	Delayed ability to walk	23162	MAPK8IP3	OMIM:618443
HP:0031936	Delayed ability to walk	9922	IQSEC1	OMIM:618687
HP:0031936	Delayed ability to walk	27086	FOXP1	OMIM:613670
HP:0031936	Delayed ability to walk	55149	MTPAP	OMIM:613672
HP:0031936	Delayed ability to walk	7994	KAT6A	OMIM:616268
HP:0031936	Delayed ability to walk	23499	MACF1	OMIM:618325
HP:0031936	Delayed ability to walk	9725	TMEM63A	OMIM:618688
HP:0031936	Delayed ability to walk	1107	CHD3	OMIM:618205
HP:0031936	Delayed ability to walk	6567	SLC16A2	ORPHA:59
HP:0031936	Delayed ability to walk	1387	CREBBP	OMIM:618332
HP:0031936	Delayed ability to walk	2033	EP300	OMIM:618333
HP:0031936	Delayed ability to walk	10533	ATG7	OMIM:619422
HP:0031936	Delayed ability to walk	8295	TRRAP	OMIM:618454
HP:0031936	Delayed ability to walk	54903	MKS1	OMIM:249000
HP:0031936	Delayed ability to walk	8621	CDK13	OMIM:617360
HP:0031936	Delayed ability to walk	5888	RAD51	OMIM:617244
HP:0031936	Delayed ability to walk	22930	RAB3GAP1	OMIM:619420
HP:0031936	Delayed ability to walk	171546	SPTSSA	OMIM:620416
HP:0031936	Delayed ability to walk	171546	SPTSSA	OMIM:620417
HP:0031936	Delayed ability to walk	4208	MEF2C	OMIM:613443
HP:0031936	Delayed ability to walk	22907	DHX30	OMIM:617804
HP:0031936	Delayed ability to walk	10664	CTCF	OMIM:615502
HP:0031936	Delayed ability to walk	4000	LMNA	OMIM:613205
HP:0031936	Delayed ability to walk	6857	SYT1	OMIM:618218
HP:0031936	Delayed ability to walk	81603	TRIM8	OMIM:619428
HP:0031936	Delayed ability to walk	23534	TNPO3	OMIM:608423
HP:0031936	Delayed ability to walk	9230	RAB11B	OMIM:617807
HP:0031936	Delayed ability to walk	8905	AP1S2	OMIM:304340
HP:0031936	Delayed ability to walk	2902	GRIN1	ORPHA:208447
HP:0031936	Delayed ability to walk	10075	HUWE1	OMIM:309590
HP:0031936	Delayed ability to walk	55906	ZC4H2	OMIM:301041
HP:0031936	Delayed ability to walk	8243	SMC1A	OMIM:301044
HP:0031936	Delayed ability to walk	6134	RPL10	OMIM:300998
HP:0031936	Delayed ability to walk	1281	COL3A1	OMIM:618343
HP:0031936	Delayed ability to walk	5898	RALA	OMIM:619311
HP:0031936	Delayed ability to walk	79879	CCDC134	OMIM:619795
HP:0031936	Delayed ability to walk	1499	CTNNB1	OMIM:615075
HP:0031936	Delayed ability to walk	9759	HDAC4	OMIM:619797
HP:0031936	Delayed ability to walk	5351	PLOD1	OMIM:225400
HP:0031936	Delayed ability to walk	56896	DPYSL5	OMIM:619435
HP:0031936	Delayed ability to walk	54892	NCAPG2	OMIM:618460
HP:0031936	Delayed ability to walk	1778	DYNC1H1	OMIM:158600
HP:0031936	Delayed ability to walk	160418	TMTC3	OMIM:617255
HP:0031936	Delayed ability to walk	54517	PUS7	OMIM:618342
HP:0031936	Delayed ability to walk	124997	WDR81	OMIM:610185
HP:0031936	Delayed ability to walk	10765	KDM5B	OMIM:618109
HP:0031936	Delayed ability to walk	11020	IFT27	OMIM:615996
HP:0031936	Delayed ability to walk	2495	FTH1	OMIM:620669
HP:0031936	Delayed ability to walk	2290	FOXG1	OMIM:613454
HP:0031936	Delayed ability to walk	8573	CASK	OMIM:300749
HP:0031936	Delayed ability to walk	10785	WDR4	OMIM:618347
HP:0031936	Delayed ability to walk	55628	ZNF407	OMIM:619557
HP:0031936	Delayed ability to walk	8924	HERC2	OMIM:615516
HP:0031936	Delayed ability to walk	6418	SET	OMIM:618106
HP:0031936	Delayed ability to walk	56623	INPP5E	OMIM:213300
HP:0031936	Delayed ability to walk	84320	ACBD6	OMIM:620785
HP:0031936	Delayed ability to walk	5279	PIGC	OMIM:617816
HP:0031936	Delayed ability to walk	22845	DOLK	ORPHA:91131
HP:0031936	Delayed ability to walk	1605	DAG1	ORPHA:370997
HP:0031936	Delayed ability to walk	7707	ZNF148	OMIM:617260
HP:0031936	Delayed ability to walk	6548	SLC9A1	OMIM:616291
HP:0031936	Delayed ability to walk	10847	SRCAP	OMIM:136140
HP:0031936	Delayed ability to walk	5515	PPP2CA	OMIM:618354
HP:0031936	Delayed ability to walk	60482	SLC5A7	OMIM:617143
HP:0031936	Delayed ability to walk	23114	NFASC	OMIM:618356
HP:0031936	Delayed ability to walk	6651	SON	OMIM:617140
HP:0031936	Delayed ability to walk	57520	HECW2	OMIM:617268
HP:0031936	Delayed ability to walk	55209	SETD5	OMIM:615761
HP:0031936	Delayed ability to walk	10659	CELF2	OMIM:619561
HP:0031936	Delayed ability to walk	63895	PIEZO2	OMIM:617146
HP:0031936	Delayed ability to walk	80347	COASY	OMIM:615643
HP:0031936	Delayed ability to walk	23524	SRRM2	OMIM:620439
HP:0031936	Delayed ability to walk	3097	HIVEP2	OMIM:616977
HP:0031936	Delayed ability to walk	5010	CLDN11	OMIM:619328
HP:0031936	Delayed ability to walk	55033	FKBP14	OMIM:614557
HP:0031936	Delayed ability to walk	8890	EIF2B4	OMIM:620314
HP:0031936	Delayed ability to walk	25885	POLR1A	OMIM:620675
HP:0031936	Delayed ability to walk	6263	RYR3	OMIM:620310
HP:0031936	Delayed ability to walk	26224	FBXL3	OMIM:606220
HP:0031936	Delayed ability to walk	161725	OTUD7A	OMIM:620790
HP:0031936	Delayed ability to walk	84679	SLC9A7	OMIM:301024
HP:0031936	Delayed ability to walk	90161	HS6ST2	OMIM:301025
HP:0031936	Delayed ability to walk	5934	RBL2	OMIM:619690
HP:0031936	Delayed ability to walk	1725	DHPS	OMIM:618480
HP:0031936	Delayed ability to walk	57190	SELENON	OMIM:602771
HP:0031936	Delayed ability to walk	4694	NDUFA1	OMIM:301020
HP:0031936	Delayed ability to walk	4784	NFIX	OMIM:602535
HP:0031936	Delayed ability to walk	4204	MECP2	OMIM:300055
HP:0031936	Delayed ability to walk	4204	MECP2	OMIM:300260
HP:0031936	Delayed ability to walk	10735	STAG2	OMIM:301022
HP:0031936	Delayed ability to walk	55967	NDUFA12	OMIM:618244
HP:0031936	Delayed ability to walk	8888	MCM3AP	OMIM:618124
HP:0031936	Delayed ability to walk	79641	ROGDI	OMIM:226750
HP:0031936	Delayed ability to walk	54496	PRMT7	OMIM:617157
HP:0031936	Delayed ability to walk	23345	SYNE1	OMIM:618484
HP:0031936	Delayed ability to walk	6334	SCN8A	OMIM:618364
HP:0031936	Delayed ability to walk	182	JAG1	OMIM:619574
HP:0031936	Delayed ability to walk	8120	AP3B2	OMIM:617276
HP:0031936	Delayed ability to walk	7169	TPM2	OMIM:609285
HP:0031936	Delayed ability to walk	267010	RNU12	OMIM:620208
HP:0031936	Delayed ability to walk	10342	TFG	OMIM:615658
HP:0031936	Delayed ability to walk	51704	GPRC5B	OMIM:620447
HP:0031936	Delayed ability to walk	54463	RETREG1	OMIM:613115
HP:0031936	Delayed ability to walk	84188	FAR1	OMIM:619338
HP:0031936	Delayed ability to walk	64131	XYLT1	OMIM:615777
HP:0031936	Delayed ability to walk	9675	TTI1	OMIM:620445
HP:0031936	Delayed ability to walk	3183	HNRNPC	OMIM:620688
HP:0031936	Delayed ability to walk	4141	MARS1	OMIM:620323
HP:0031936	Delayed ability to walk	1737	DLAT	ORPHA:79244
HP:0031936	Delayed ability to walk	51608	GET4	OMIM:620200
HP:0031936	Delayed ability to walk	20	ABCA2	OMIM:618808
HP:0031936	Delayed ability to walk	128989	TANGO2	ORPHA:480864
HP:0031936	Delayed ability to walk	8604	SLC25A12	OMIM:612949
HP:0031936	Delayed ability to walk	54806	AHI1	OMIM:608629
HP:0031936	Delayed ability to walk	51185	CRBN	OMIM:607417
HP:0031936	Delayed ability to walk	2898	GRIK2	OMIM:619580
HP:0031936	Delayed ability to walk	80311	KLHL15	OMIM:300982
HP:0031936	Delayed ability to walk	1781	DYNC1I2	OMIM:618492
HP:0031936	Delayed ability to walk	10943	MSL3	OMIM:301032
HP:0031936	Delayed ability to walk	6390	SDHB	OMIM:619224
HP:0031936	Delayed ability to walk	23028	KDM1A	ORPHA:477993
HP:0031936	Delayed ability to walk	63931	MRPS14	OMIM:618378
HP:0031936	Delayed ability to walk	22808	MRAS	OMIM:618499
HP:0031936	Delayed ability to walk	9758	FRMPD4	OMIM:300983
HP:0031936	Delayed ability to walk	54681	P4HTM	OMIM:618493
HP:0031936	Delayed ability to walk	80185	TTI2	OMIM:615541
HP:0031936	Delayed ability to walk	4761	NEUROD2	OMIM:618374
HP:0031936	Delayed ability to walk	523	ATP6V1A	OMIM:618012
HP:0031936	Delayed ability to walk	54664	TMEM106B	OMIM:617964
HP:0031936	Delayed ability to walk	3908	LAMA2	OMIM:618138
HP:0031936	Delayed ability to walk	6304	SATB1	OMIM:619229
HP:0031936	Delayed ability to walk	84668	HYCC1	OMIM:610532
HP:0031936	Delayed ability to walk	3930	LBR	OMIM:618019
HP:0031936	Delayed ability to walk	54551	MAGEL2	OMIM:615547
HP:0031936	Delayed ability to walk	6874	TAF4	OMIM:620450
HP:0031936	Delayed ability to walk	28982	FLVCR1	OMIM:609033
HP:0031936	Delayed ability to walk	84065	TMEM222	OMIM:619470
HP:0031936	Delayed ability to walk	5977	DPF2	OMIM:618027
HP:0031936	Delayed ability to walk	27107	ZBTB11	OMIM:618383
HP:0031936	Delayed ability to walk	22866	CNKSR2	OMIM:301008
HP:0031936	Delayed ability to walk	10815	CPLX1	OMIM:617976
HP:0031936	Delayed ability to walk	7204	TRIO	OMIM:618825
HP:0031936	Delayed ability to walk	7204	TRIO	OMIM:617061
HP:0031936	Delayed ability to walk	2588	GALNS	OMIM:253000
HP:0031936	Delayed ability to walk	23040	MYT1L	OMIM:616521
HP:0031936	Delayed ability to walk	3839	KPNA3	OMIM:620106
HP:0031936	Delayed ability to walk	8452	CUL3	OMIM:619239
HP:0031936	Delayed ability to walk	10283	CWC27	OMIM:250410
HP:0031936	Delayed ability to walk	80036	TRPM3	OMIM:620224
HP:0031936	Delayed ability to walk	8405	SPOP	OMIM:618828
HP:0031936	Delayed ability to walk	8405	SPOP	OMIM:618829
HP:0031936	Delayed ability to walk	8936	WASF1	OMIM:618707
HP:0031936	Delayed ability to walk	26047	CNTNAP2	ORPHA:163681
HP:0031936	Delayed ability to walk	1457	CSNK2A1	OMIM:617062
HP:0031936	Delayed ability to walk	84197	POMK	OMIM:616094
HP:0031936	Delayed ability to walk	4841	NONO	OMIM:300967
HP:0031936	Delayed ability to walk	5058	PAK1	OMIM:618158
HP:0031936	Delayed ability to walk	200894	ARL13B	OMIM:612291
HP:0031936	Delayed ability to walk	6472	SHMT2	OMIM:619121
HP:0031936	Delayed ability to walk	23233	EXOC6B	OMIM:618395
HP:0031936	Delayed ability to walk	28952	CCDC22	OMIM:300963
HP:0031936	Delayed ability to walk	79143	MBOAT7	OMIM:617188
HP:0031936	Delayed ability to walk	57688	ZSWIM6	OMIM:617865
HP:0031936	Delayed ability to walk	2893	GRIA4	OMIM:617864
HP:0031936	Delayed ability to walk	271	AMPD2	OMIM:615686
HP:0031936	Delayed ability to walk	9215	LARGE1	OMIM:608840
HP:0031936	Delayed ability to walk	4047	LSS	OMIM:618840
HP:0031936	Delayed ability to walk	6571	SLC18A2	OMIM:618049
HP:0031936	Delayed ability to walk	54802	TRIT1	OMIM:617873
HP:0031936	Delayed ability to walk	23154	NCDN	OMIM:619373
HP:0031936	Delayed ability to walk	1315	COPB1	OMIM:619255
HP:0031936	Delayed ability to walk	51780	KDM3B	OMIM:618846
HP:0031936	Delayed ability to walk	1073	CFL2	OMIM:610687
HP:0031936	Delayed ability to walk	5430	POLR2A	OMIM:618603
HP:0031936	Delayed ability to walk	81615	TMEM163	OMIM:620243
HP:0031936	Delayed ability to walk	64802	NMNAT1	OMIM:619260
HP:0031936	Delayed ability to walk	1795	DOCK3	OMIM:618292
HP:0031936	Delayed ability to walk	11133	KPTN	ORPHA:397612
HP:0031936	Delayed ability to walk	64432	MRPS25	OMIM:619025
HP:0031936	Delayed ability to walk	3735	KARS1	OMIM:619147
HP:0031936	Delayed ability to walk	8665	EIF3F	OMIM:618295
HP:0031936	Delayed ability to walk	7543	ZFX	OMIM:301118
HP:0031936	Delayed ability to walk	221927	BRAT1	OMIM:618056
HP:0031936	Delayed ability to walk	4281	MID1	ORPHA:2745
HP:0031936	Delayed ability to walk	1140	CHRNB1	OMIM:616313
HP:0031936	Delayed ability to walk	1460	CSNK2B	OMIM:618732
HP:0031936	Delayed ability to walk	22868	FASTKD2	OMIM:618855
HP:0031936	Delayed ability to walk	57194	ATP10A	ORPHA:411515
HP:0031937	Tachylalia	4137	MAPT	ORPHA:240094
HP:0031938	Abnormal conus terminalis morphology	3187	HNRNPH1	OMIM:620083
HP:0031938	Abnormal conus terminalis morphology	5290	PIK3CA	OMIM:612918
HP:0031938	Abnormal conus terminalis morphology	54892	NCAPG2	OMIM:618460
HP:0031938	Abnormal conus terminalis morphology	84231	TRAF7	OMIM:618164
HP:0031938	Abnormal conus terminalis morphology	3110	MNX1	OMIM:176450
HP:0031938	Abnormal conus terminalis morphology	3110	MNX1	ORPHA:1552
HP:0031938	Abnormal conus terminalis morphology	23028	KDM1A	OMIM:616728
HP:0031938	Abnormal conus terminalis morphology	10093	ARPC4	OMIM:620141
HP:0031938	Abnormal conus terminalis morphology	2131	EXT1	ORPHA:321
HP:0031938	Abnormal conus terminalis morphology	2132	EXT2	ORPHA:321
HP:0031938	Abnormal conus terminalis morphology	81839	VANGL1	OMIM:600145
HP:0031938	Abnormal conus terminalis morphology	11198	SUPT16H	OMIM:619480
HP:0031938	Abnormal conus terminalis morphology	6299	SALL1	OMIM:107480
HP:0031938	Abnormal conus terminalis morphology	4774	NFIA	ORPHA:401986
HP:0031938	Abnormal conus terminalis morphology	23498	HAAO	OMIM:617660
HP:0031938	Abnormal conus terminalis morphology	10815	CPLX1	ORPHA:280
HP:0031938	Abnormal conus terminalis morphology	10815	CPLX1	OMIM:194190
HP:0031938	Abnormal conus terminalis morphology	54872	PIGG	ORPHA:280
HP:0031938	Abnormal conus terminalis morphology	7469	NELFA	ORPHA:280
HP:0031938	Abnormal conus terminalis morphology	1487	CTBP1	ORPHA:280
HP:0031938	Abnormal conus terminalis morphology	1487	CTBP1	OMIM:194190
HP:0031938	Abnormal conus terminalis morphology	3954	LETM1	ORPHA:280
HP:0031938	Abnormal conus terminalis morphology	3954	LETM1	OMIM:194190
HP:0031938	Abnormal conus terminalis morphology	7468	NSD2	ORPHA:280
HP:0031938	Abnormal conus terminalis morphology	7468	NSD2	OMIM:194190
HP:0031938	Abnormal conus terminalis morphology	1387	CREBBP	OMIM:618332
HP:0031938	Abnormal conus terminalis morphology	1615	DARS1	OMIM:615281
HP:0031938	Abnormal conus terminalis morphology	4854	NOTCH3	OMIM:130720
HP:0031938	Abnormal conus terminalis morphology	7750	ZMYM2	OMIM:619522
HP:0031938	Abnormal conus terminalis morphology	55262	TRAPPC14	OMIM:618351
HP:0031938	Abnormal conus terminalis morphology	5888	RAD51	OMIM:617244
HP:0031938	Abnormal conus terminalis morphology	171546	SPTSSA	OMIM:620416
HP:0031938	Abnormal conus terminalis morphology	171546	SPTSSA	OMIM:620417
HP:0031938	Abnormal conus terminalis morphology	57466	SCAF4	OMIM:620511
HP:0031938	Abnormal conus terminalis morphology	53834	FGFRL1	OMIM:194190
HP:0031938	Abnormal conus terminalis morphology	1499	CTNNB1	ORPHA:404473
HP:0031938	Abnormal conus terminalis morphology	54496	PRMT7	ORPHA:464288
HP:0031938	Abnormal conus terminalis morphology	5921	RASA1	ORPHA:90307
HP:0031939	Conus terminalis arteriovenous malformation	5921	RASA1	ORPHA:90307
HP:0005807	Absent distal phalanges	9241	NOG	OMIM:186500
HP:0005807	Absent distal phalanges	3930	LBR	OMIM:215140
HP:0005807	Absent distal phalanges	29957	SLC25A24	OMIM:612289
HP:0005807	Absent distal phalanges	7048	TGFBR2	OMIM:610168
HP:0005807	Absent distal phalanges	1147	CHUK	OMIM:619339
HP:0005807	Absent distal phalanges	3782	KCNN3	OMIM:618658
HP:0005807	Absent distal phalanges	57572	DOCK6	OMIM:614219
HP:0100259	Postaxial polydactyly	6309	SC5D	ORPHA:46059
HP:0100259	Postaxial polydactyly	6309	SC5D	OMIM:607330
HP:0100259	Postaxial polydactyly	894	CCND2	ORPHA:83473
HP:0100259	Postaxial polydactyly	894	CCND2	OMIM:615938
HP:0100259	Postaxial polydactyly	10000	AKT3	ORPHA:83473
HP:0100259	Postaxial polydactyly	10000	AKT3	OMIM:615937
HP:0100259	Postaxial polydactyly	4750	NEK1	OMIM:263520
HP:0100259	Postaxial polydactyly	4750	NEK1	OMIM:252100
HP:0100259	Postaxial polydactyly	4750	NEK1	ORPHA:2751
HP:0100259	Postaxial polydactyly	51259	TMEM216	OMIM:608091
HP:0100259	Postaxial polydactyly	51259	TMEM216	OMIM:603194
HP:0100259	Postaxial polydactyly	51259	TMEM216	ORPHA:564
HP:0100259	Postaxial polydactyly	56623	INPP5E	OMIM:213300
HP:0100259	Postaxial polydactyly	56623	INPP5E	ORPHA:1454
HP:0100259	Postaxial polydactyly	55593	OTUD5	OMIM:301056
HP:0100259	Postaxial polydactyly	374654	KIF7	ORPHA:36
HP:0100259	Postaxial polydactyly	374654	KIF7	OMIM:200990
HP:0100259	Postaxial polydactyly	374654	KIF7	OMIM:614120
HP:0100259	Postaxial polydactyly	374654	KIF7	ORPHA:2189
HP:0100259	Postaxial polydactyly	91147	TMEM67	OMIM:216360
HP:0100259	Postaxial polydactyly	91147	TMEM67	ORPHA:564
HP:0100259	Postaxial polydactyly	91147	TMEM67	ORPHA:1454
HP:0100259	Postaxial polydactyly	91147	TMEM67	OMIM:607361
HP:0100259	Postaxial polydactyly	57560	IFT80	ORPHA:93271
HP:0100259	Postaxial polydactyly	57560	IFT80	ORPHA:474
HP:0100259	Postaxial polydactyly	57560	IFT80	OMIM:611263
HP:0100259	Postaxial polydactyly	4149	MAX	OMIM:620712
HP:0100259	Postaxial polydactyly	1717	DHCR7	ORPHA:818
HP:0100259	Postaxial polydactyly	1717	DHCR7	OMIM:270400
HP:0100259	Postaxial polydactyly	10225	CD96	OMIM:211750
HP:0100259	Postaxial polydactyly	6926	TBX3	ORPHA:3138
HP:0100259	Postaxial polydactyly	6926	TBX3	OMIM:181450
HP:0100259	Postaxial polydactyly	83871	RAB34	OMIM:620718
HP:0100259	Postaxial polydactyly	3209	HOXA13	ORPHA:2438
HP:0100259	Postaxial polydactyly	3209	HOXA13	OMIM:176305
HP:0100259	Postaxial polydactyly	64093	SMOC1	ORPHA:1106
HP:0100259	Postaxial polydactyly	64093	SMOC1	OMIM:206920
HP:0100259	Postaxial polydactyly	84314	TMEM107	ORPHA:564
HP:0100259	Postaxial polydactyly	84314	TMEM107	OMIM:617563
HP:0100259	Postaxial polydactyly	79867	TCTN2	ORPHA:564
HP:0100259	Postaxial polydactyly	79867	TCTN2	OMIM:616654
HP:0100259	Postaxial polydactyly	79600	TCTN1	ORPHA:564
HP:0100259	Postaxial polydactyly	57096	RPGRIP1	ORPHA:564
HP:0100259	Postaxial polydactyly	57545	CC2D2A	ORPHA:564
HP:0100259	Postaxial polydactyly	57545	CC2D2A	ORPHA:1454
HP:0100259	Postaxial polydactyly	57545	CC2D2A	OMIM:612284
HP:0100259	Postaxial polydactyly	27077	B9D1	ORPHA:564
HP:0100259	Postaxial polydactyly	285600	KIAA0825	OMIM:618498
HP:0100259	Postaxial polydactyly	8200	GDF5	OMIM:113100
HP:0100259	Postaxial polydactyly	8200	GDF5	OMIM:200700
HP:0100259	Postaxial polydactyly	8200	GDF5	ORPHA:2098
HP:0100259	Postaxial polydactyly	5147	PDE6D	OMIM:615665
HP:0100259	Postaxial polydactyly	51715	RAB23	ORPHA:65759
HP:0100259	Postaxial polydactyly	51715	RAB23	OMIM:201000
HP:0100259	Postaxial polydactyly	26005	C2CD3	OMIM:615948
HP:0100259	Postaxial polydactyly	26005	C2CD3	ORPHA:434179
HP:0100259	Postaxial polydactyly	26040	SETBP1	OMIM:269150
HP:0100259	Postaxial polydactyly	2121	EVC	ORPHA:952
HP:0100259	Postaxial polydactyly	2121	EVC	OMIM:193530
HP:0100259	Postaxial polydactyly	2121	EVC	OMIM:225500
HP:0100259	Postaxial polydactyly	132884	EVC2	ORPHA:952
HP:0100259	Postaxial polydactyly	132884	EVC2	OMIM:193530
HP:0100259	Postaxial polydactyly	132884	EVC2	OMIM:225500
HP:0100259	Postaxial polydactyly	9851	KIAA0753	ORPHA:474
HP:0100259	Postaxial polydactyly	9851	KIAA0753	OMIM:617127
HP:0100259	Postaxial polydactyly	9742	IFT140	ORPHA:474
HP:0100259	Postaxial polydactyly	9742	IFT140	OMIM:266920
HP:0100259	Postaxial polydactyly	57728	WDR19	ORPHA:474
HP:0100259	Postaxial polydactyly	79809	TTC21B	ORPHA:474
HP:0100259	Postaxial polydactyly	64840	PORCN	OMIM:305600
HP:0100259	Postaxial polydactyly	79005	SCNM1	OMIM:620107
HP:0100259	Postaxial polydactyly	6608	SMO	OMIM:241800
HP:0100259	Postaxial polydactyly	658	BMPR1B	ORPHA:2098
HP:0100259	Postaxial polydactyly	54499	TMCO1	OMIM:213980
HP:0100259	Postaxial polydactyly	51360	MBTPS2	OMIM:308205
HP:0100259	Postaxial polydactyly	51360	MBTPS2	ORPHA:85284
HP:0100259	Postaxial polydactyly	8481	OFD1	OMIM:300209
HP:0100259	Postaxial polydactyly	8481	OFD1	OMIM:300804
HP:0100259	Postaxial polydactyly	8481	OFD1	ORPHA:2750
HP:0100259	Postaxial polydactyly	80210	ARMC9	OMIM:617622
HP:0100259	Postaxial polydactyly	2316	FLNA	OMIM:304120
HP:0100259	Postaxial polydactyly	3930	LBR	OMIM:215140
HP:0100259	Postaxial polydactyly	727857	BHLHA9	ORPHA:3329
HP:0100259	Postaxial polydactyly	51684	SUFU	OMIM:617757
HP:0100259	Postaxial polydactyly	219844	HYLS1	OMIM:236680
HP:0100259	Postaxial polydactyly	219844	HYLS1	ORPHA:2189
HP:0100259	Postaxial polydactyly	6910	TBX5	OMIM:142900
HP:0100259	Postaxial polydactyly	257	ALX3	OMIM:136760
HP:0100259	Postaxial polydactyly	23288	IQCE	OMIM:617642
HP:0100259	Postaxial polydactyly	5567	PRKACB	OMIM:619143
HP:0100259	Postaxial polydactyly	137392	CIBAR1	OMIM:618219
HP:0100259	Postaxial polydactyly	7700	ZNF141	OMIM:615226
HP:0100259	Postaxial polydactyly	255758	DYNLT2B	OMIM:617405
HP:0100259	Postaxial polydactyly	2263	FGFR2	OMIM:101200
HP:0100259	Postaxial polydactyly	2137	EXTL3	ORPHA:508533
HP:0100259	Postaxial polydactyly	3239	HOXD13	OMIM:186000
HP:0100259	Postaxial polydactyly	652	BMP4	ORPHA:139471
HP:0100259	Postaxial polydactyly	27031	NPHP3	OMIM:267010
HP:0100259	Postaxial polydactyly	26160	IFT172	OMIM:619471
HP:0100259	Postaxial polydactyly	26160	IFT172	ORPHA:110
HP:0100259	Postaxial polydactyly	79659	DYNC2H1	OMIM:613091
HP:0100259	Postaxial polydactyly	92482	BBIP1	ORPHA:110
HP:0100259	Postaxial polydactyly	80184	CEP290	ORPHA:110
HP:0100259	Postaxial polydactyly	11020	IFT27	ORPHA:110
HP:0100259	Postaxial polydactyly	11020	IFT27	OMIM:615996
HP:0100259	Postaxial polydactyly	582	BBS1	ORPHA:110
HP:0100259	Postaxial polydactyly	582	BBS1	OMIM:209900
HP:0100259	Postaxial polydactyly	49855	SCAPER	ORPHA:110
HP:0100259	Postaxial polydactyly	4867	NPHP1	ORPHA:110
HP:0100259	Postaxial polydactyly	51057	WDPCP	ORPHA:110
HP:0100259	Postaxial polydactyly	132320	SCLT1	ORPHA:110
HP:0100259	Postaxial polydactyly	27241	BBS9	ORPHA:110
HP:0100259	Postaxial polydactyly	27241	BBS9	OMIM:615986
HP:0100259	Postaxial polydactyly	84984	CEP19	ORPHA:110
HP:0100259	Postaxial polydactyly	22954	TRIM32	ORPHA:110
HP:0100259	Postaxial polydactyly	54903	MKS1	ORPHA:110
HP:0100259	Postaxial polydactyly	54903	MKS1	OMIM:249000
HP:0100259	Postaxial polydactyly	79738	BBS10	ORPHA:110
HP:0100259	Postaxial polydactyly	123016	TTC8	ORPHA:110
HP:0100259	Postaxial polydactyly	123016	TTC8	OMIM:615985
HP:0100259	Postaxial polydactyly	583	BBS2	ORPHA:110
HP:0100259	Postaxial polydactyly	585	BBS4	ORPHA:110
HP:0100259	Postaxial polydactyly	8195	MKKS	ORPHA:110
HP:0100259	Postaxial polydactyly	8195	MKKS	OMIM:605231
HP:0100259	Postaxial polydactyly	54585	LZTFL1	ORPHA:110
HP:0100259	Postaxial polydactyly	55212	BBS7	ORPHA:110
HP:0100259	Postaxial polydactyly	55212	BBS7	OMIM:615984
HP:0100259	Postaxial polydactyly	166379	BBS12	ORPHA:110
HP:0100259	Postaxial polydactyly	10806	SDCCAG8	ORPHA:110
HP:0100259	Postaxial polydactyly	157657	CFAP418	ORPHA:110
HP:0100259	Postaxial polydactyly	157657	CFAP418	OMIM:614500
HP:0100259	Postaxial polydactyly	84100	ARL6	ORPHA:110
HP:0100259	Postaxial polydactyly	84100	ARL6	OMIM:209900
HP:0100259	Postaxial polydactyly	84100	ARL6	OMIM:600151
HP:0100259	Postaxial polydactyly	129880	BBS5	ORPHA:110
HP:0100259	Postaxial polydactyly	129880	BBS5	OMIM:615983
HP:0100259	Postaxial polydactyly	80173	IFT74	ORPHA:110
HP:0100259	Postaxial polydactyly	80173	IFT74	OMIM:619582
HP:0100259	Postaxial polydactyly	5518	PPP2R1A	OMIM:616362
HP:0100259	Postaxial polydactyly	5518	PPP2R1A	ORPHA:457284
HP:0100259	Postaxial polydactyly	392255	GDF6	OMIM:613094
HP:0100259	Postaxial polydactyly	65250	CPLANE1	OMIM:277170
HP:0100259	Postaxial polydactyly	65250	CPLANE1	OMIM:614615
HP:0100259	Postaxial polydactyly	28981	IFT81	OMIM:617895
HP:0100259	Postaxial polydactyly	54892	NCAPG2	OMIM:618460
HP:0100259	Postaxial polydactyly	348180	CTU2	OMIM:618142
HP:0100259	Postaxial polydactyly	4613	MYCN	OMIM:620748
HP:0100259	Postaxial polydactyly	89891	DYNC2I2	OMIM:615633
HP:0100259	Postaxial polydactyly	8239	USP9X	ORPHA:480880
HP:0100259	Postaxial polydactyly	8239	USP9X	OMIM:300968
HP:0100259	Postaxial polydactyly	65062	TMEM237	OMIM:614424
HP:0100259	Postaxial polydactyly	79770	TXNDC15	OMIM:619879
HP:0100259	Postaxial polydactyly	55209	SETD5	ORPHA:404440
HP:0100259	Postaxial polydactyly	55209	SETD5	OMIM:615761
HP:0100259	Postaxial polydactyly	3190	HNRNPK	ORPHA:453504
HP:0100259	Postaxial polydactyly	3190	HNRNPK	OMIM:616580
HP:0100259	Postaxial polydactyly	3190	HNRNPK	ORPHA:352665
HP:0100259	Postaxial polydactyly	79848	CSPP1	ORPHA:397715
HP:0100259	Postaxial polydactyly	9786	KIAA0586	ORPHA:397715
HP:0100259	Postaxial polydactyly	9786	KIAA0586	OMIM:616546
HP:0100259	Postaxial polydactyly	64327	LMBR1	OMIM:186200
HP:0100259	Postaxial polydactyly	3021	H3-3B	OMIM:619721
HP:0100259	Postaxial polydactyly	51098	IFT52	OMIM:617102
HP:0100259	Postaxial polydactyly	219854	TMEM218	OMIM:619562
HP:0100259	Postaxial polydactyly	112752	IFT43	OMIM:617866
HP:0100259	Postaxial polydactyly	112752	IFT43	OMIM:614099
HP:0100259	Postaxial polydactyly	23322	RPGRIP1L	OMIM:611560
HP:0100259	Postaxial polydactyly	83479	DDX59	OMIM:174300
HP:0100259	Postaxial polydactyly	22858	CILK1	OMIM:612651
HP:0100259	Postaxial polydactyly	9371	KIF3B	OMIM:618955
HP:0100259	Postaxial polydactyly	2736	GLI2	OMIM:615849
HP:0100259	Postaxial polydactyly	1482	NKX2-5	OMIM:217095
HP:0100259	Postaxial polydactyly	6899	TBX1	OMIM:217095
HP:0100259	Postaxial polydactyly	137814	NKX2-6	OMIM:217095
HP:0100259	Postaxial polydactyly	2627	GATA6	OMIM:217095
HP:0100259	Postaxial polydactyly	5932	RBBP8	OMIM:251255
HP:0100259	Postaxial polydactyly	8241	RBM10	ORPHA:2886
HP:0100259	Postaxial polydactyly	8241	RBM10	OMIM:311900
HP:0100259	Postaxial polydactyly	5296	PIK3R2	OMIM:603387
HP:0100259	Postaxial polydactyly	2735	GLI1	OMIM:618123
HP:0100259	Postaxial polydactyly	50515	CHST11	OMIM:618167
HP:0100259	Postaxial polydactyly	79989	IFT56	OMIM:619534
HP:0100259	Postaxial polydactyly	153241	CEP120	OMIM:616300
HP:0100259	Postaxial polydactyly	8831	SYNGAP1	ORPHA:544254
HP:0100259	Postaxial polydactyly	7048	TGFBR2	OMIM:610168
HP:0100259	Postaxial polydactyly	79140	CCDC28B	OMIM:209900
HP:0100259	Postaxial polydactyly	286204	CRB2	OMIM:219730
HP:0100259	Postaxial polydactyly	10682	EBP	OMIM:302960
HP:0100259	Postaxial polydactyly	23116	TOGARAM1	OMIM:619185
HP:0100259	Postaxial polydactyly	57539	WDR35	OMIM:614091
HP:0100259	Postaxial polydactyly	51626	DYNC2LI1	OMIM:617088
HP:0100259	Postaxial polydactyly	5566	PRKACA	OMIM:619142
HP:0100259	Postaxial polydactyly	80776	B9D2	OMIM:614175
HP:0100259	Postaxial polydactyly	7543	ZFX	OMIM:301118
HP:0100259	Postaxial polydactyly	57511	COG6	OMIM:614576
HP:0100259	Postaxial polydactyly	79583	TMEM231	OMIM:614970
HP:0100259	Postaxial polydactyly	27152	INTU	OMIM:617925
HP:0100259	Postaxial polydactyly	1954	MEGF8	OMIM:614976
HP:0100259	Postaxial polydactyly	7046	TGFBR1	OMIM:609192
HP:0100259	Postaxial polydactyly	7476	WNT7A	OMIM:613005
HP:0100259	Postaxial polydactyly	84300	UQCC2	OMIM:615824
HP:0100259	Postaxial polydactyly	9373	PLAA	OMIM:617527
HP:0100259	Postaxial polydactyly	2719	GPC3	OMIM:312870
HP:0100259	Postaxial polydactyly	2239	GPC4	OMIM:312870
HP:0100259	Postaxial polydactyly	55112	DYNC2I1	OMIM:615503
HP:0100259	Postaxial polydactyly	26123	TCTN3	OMIM:614815
HP:0100259	Postaxial polydactyly	26123	TCTN3	OMIM:258860
HP:0100259	Postaxial polydactyly	55081	IFT57	OMIM:617927
HP:0100259	Postaxial polydactyly	2737	GLI3	OMIM:146510
HP:0009237	Short 5th finger	658	BMPR1B	OMIM:112600
HP:0009237	Short 5th finger	658	BMPR1B	OMIM:616849
HP:0009237	Short 5th finger	658	BMPR1B	ORPHA:93396
HP:0009237	Short 5th finger	650	BMP2	OMIM:112600
HP:0009237	Short 5th finger	650	BMP2	ORPHA:93396
HP:0009237	Short 5th finger	8200	GDF5	OMIM:112600
HP:0009237	Short 5th finger	8200	GDF5	OMIM:615072
HP:0009237	Short 5th finger	8200	GDF5	ORPHA:63442
HP:0009237	Short 5th finger	8200	GDF5	ORPHA:93396
HP:0009237	Short 5th finger	8200	GDF5	OMIM:113100
HP:0009237	Short 5th finger	4920	ROR2	OMIM:268310
HP:0009237	Short 5th finger	4613	MYCN	ORPHA:391641
HP:0009237	Short 5th finger	9698	PUM1	OMIM:620719
HP:0009237	Short 5th finger	10743	RAI1	OMIM:182290
HP:0009237	Short 5th finger	7021	TFAP2B	ORPHA:46627
HP:0009237	Short 5th finger	51199	NIN	ORPHA:319675
HP:0009237	Short 5th finger	51199	NIN	OMIM:614851
HP:0009237	Short 5th finger	7474	WNT5A	OMIM:180700
HP:0009237	Short 5th finger	1855	DVL1	OMIM:180700
HP:0009237	Short 5th finger	9241	NOG	OMIM:186500
HP:0009237	Short 5th finger	6910	TBX5	OMIM:142900
HP:0009237	Short 5th finger	3239	HOXD13	OMIM:186000
HP:0009237	Short 5th finger	3239	HOXD13	ORPHA:93409
HP:0009237	Short 5th finger	10847	SRCAP	OMIM:136140
HP:0009237	Short 5th finger	2077	ERF	OMIM:617180
HP:0009237	Short 5th finger	860	RUNX2	OMIM:119600
HP:0009237	Short 5th finger	860	RUNX2	OMIM:156510
HP:0009237	Short 5th finger	2783	GNB2	OMIM:619503
HP:0009237	Short 5th finger	5932	RBBP8	OMIM:251255
HP:0009237	Short 5th finger	1280	COL2A1	OMIM:271700
HP:0009237	Short 5th finger	10236	HNRNPR	OMIM:620073
HP:0009237	Short 5th finger	90459	ERI1	OMIM:620662
HP:0009237	Short 5th finger	56992	KIF15	ORPHA:261323
HP:0009237	Short 5th finger	22827	PUF60	ORPHA:508498
HP:0009237	Short 5th finger	22827	PUF60	ORPHA:508488
HP:0009237	Short 5th finger	22827	PUF60	OMIM:615583
HP:0009237	Short 5th finger	2245	FGD1	OMIM:305400
HP:0009237	Short 5th finger	10262	SF3B4	OMIM:154400
HP:0009237	Short 5th finger	23162	MAPK8IP3	OMIM:618443
HP:0009237	Short 5th finger	5648	MASP1	OMIM:257920
HP:0009237	Short 5th finger	6597	SMARCA4	ORPHA:1465
HP:0009237	Short 5th finger	6597	SMARCA4	OMIM:614609
HP:0009237	Short 5th finger	6598	SMARCB1	ORPHA:1465
HP:0009237	Short 5th finger	6659	SOX4	ORPHA:1465
HP:0009237	Short 5th finger	8289	ARID1A	ORPHA:1465
HP:0009237	Short 5th finger	5977	DPF2	ORPHA:1465
HP:0009237	Short 5th finger	6601	SMARCC2	ORPHA:1465
HP:0009237	Short 5th finger	6602	SMARCD1	ORPHA:1465
HP:0009237	Short 5th finger	57492	ARID1B	ORPHA:1465
HP:0009237	Short 5th finger	196528	ARID2	ORPHA:1465
HP:0009237	Short 5th finger	6605	SMARCE1	ORPHA:1465
HP:0009237	Short 5th finger	6664	SOX11	ORPHA:1465
HP:0009237	Short 5th finger	5879	RAC1	ORPHA:500159
HP:0009237	Short 5th finger	91461	PKDCC	OMIM:618821
HP:0009237	Short 5th finger	3209	HOXA13	OMIM:140000
HP:0009237	Short 5th finger	3209	HOXA13	OMIM:176305
HP:0009237	Short 5th finger	9820	CUL7	OMIM:273750
HP:0009237	Short 5th finger	23363	OBSL1	OMIM:612921
HP:0009237	Short 5th finger	4848	CNOT2	OMIM:618608
HP:0009237	Short 5th finger	2778	GNAS	ORPHA:79445
HP:0009237	Short 5th finger	526	ATP6V1B2	ORPHA:79500
HP:0009237	Short 5th finger	57465	TBC1D24	ORPHA:79500
HP:0009237	Short 5th finger	57465	TBC1D24	OMIM:220500
HP:0009237	Short 5th finger	5286	PIK3C2A	ORPHA:557003
HP:0009237	Short 5th finger	2697	GJA1	OMIM:186100
HP:0009237	Short 5th finger	6926	TBX3	OMIM:181450
HP:0009237	Short 5th finger	1327	COX4I1	OMIM:619060
HP:0009237	Short 5th finger	7750	ZMYM2	OMIM:619522
HP:0009237	Short 5th finger	4212	MEIS2	OMIM:600987
HP:0009237	Short 5th finger	9775	EIF4A3	OMIM:268305
HP:0009237	Short 5th finger	7403	KDM6A	OMIM:300867
HP:0009237	Short 5th finger	7403	KDM6A	ORPHA:2322
HP:0009237	Short 5th finger	7403	KDM6A	OMIM:147920
HP:0009237	Short 5th finger	3481	IGF2	ORPHA:397590
HP:0009237	Short 5th finger	1028	CDKN1C	ORPHA:397590
HP:0009237	Short 5th finger	5324	PLAG1	ORPHA:397590
HP:0009237	Short 5th finger	8091	HMGA2	ORPHA:397590
HP:0009237	Short 5th finger	8085	KMT2D	ORPHA:2322
HP:0009237	Short 5th finger	8085	KMT2D	OMIM:147920
HP:0009237	Short 5th finger	9126	SMC3	OMIM:610759
HP:0009237	Short 5th finger	4297	KMT2A	OMIM:605130
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	132884	EVC2	OMIM:225500
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	2121	EVC	OMIM:225500
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	54808	DYM	OMIM:223800
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	1280	COL2A1	OMIM:271700
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	59341	TRPV4	OMIM:184252
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	4882	NPR2	OMIM:602875
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	56992	KIF15	ORPHA:261323
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	26160	IFT172	OMIM:615630
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	4750	NEK1	ORPHA:2751
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	2131	EXT1	ORPHA:502
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	5885	RAD21	ORPHA:502
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	7227	TRPS1	ORPHA:502
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	25839	COG4	OMIM:618150
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	25839	COG4	ORPHA:85172
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	10847	SRCAP	OMIM:136140
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	3549	IHH	OMIM:607778
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	9742	IFT140	OMIM:617781
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	9742	IFT140	OMIM:266920
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	633	BGN	OMIM:300106
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	860	RUNX2	OMIM:119600
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	9321	TRIP11	OMIM:184260
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	375056	MIA3	OMIM:619269
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	9451	EIF2AK3	OMIM:226980
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	51098	IFT52	OMIM:617102
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	2261	FGFR3	OMIM:602849
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	2316	FLNA	OMIM:309350
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	2316	FLNA	ORPHA:2484
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	545	ATR	OMIM:210600
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	406932	MIR140	OMIM:618618
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	5573	PRKAR1A	OMIM:101800
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	6023	RMRP	OMIM:250460
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	2879	GPX4	OMIM:250220
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	28957	MRPS28	OMIM:618958
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	8200	GDF5	OMIM:113100
HP:0031941	Abnormal portal venous system morphology	9401	RECQL4	OMIM:218600
HP:0031941	Abnormal portal venous system morphology	4851	NOTCH1	OMIM:616028
HP:0031941	Abnormal portal venous system morphology	3717	JAK2	ORPHA:729
HP:0031941	Abnormal portal venous system morphology	4233	MET	ORPHA:33402
HP:0031941	Abnormal portal venous system morphology	1499	CTNNB1	ORPHA:33402
HP:0031941	Abnormal portal venous system morphology	462	SERPINC1	ORPHA:82
HP:0031941	Abnormal portal venous system morphology	6521	SLC4A1	ORPHA:3202
HP:0031941	Abnormal portal venous system morphology	9780	PIEZO1	ORPHA:3202
HP:0031941	Abnormal portal venous system morphology	3783	KCNN4	ORPHA:3202
HP:0031941	Abnormal portal venous system morphology	93183	PIGM	OMIM:610293
HP:0031941	Abnormal portal venous system morphology	10112	KIF20A	OMIM:619433
HP:0031943	Akathisia	1512	CTSH	ORPHA:2073
HP:0031943	Akathisia	5032	P2RY11	ORPHA:2073
HP:0031943	Akathisia	4340	MOG	ORPHA:2073
HP:0031943	Akathisia	3119	HLA-DQB1	ORPHA:2073
HP:0031943	Akathisia	3060	HCRT	ORPHA:2073
HP:0031943	Akathisia	22891	ZNF365	ORPHA:2073
HP:0031943	Akathisia	7292	TNFSF4	ORPHA:2073
HP:0031943	Akathisia	3123	HLA-DRB1	ORPHA:2073
HP:0031943	Akathisia	6709	SPTAN1	OMIM:620528
HP:0031943	Akathisia	51142	CHCHD2	OMIM:616710
HP:0031943	Akathisia	2512	FTL	OMIM:615604
HP:0031943	Akathisia	54832	VPS13C	ORPHA:2828
HP:0031943	Akathisia	11315	PARK7	ORPHA:2828
HP:0031943	Akathisia	7345	UCHL1	ORPHA:2828
HP:0031943	Akathisia	27429	HTRA2	ORPHA:2828
HP:0031943	Akathisia	120892	LRRK2	ORPHA:2828
HP:0031943	Akathisia	9829	DNAJC6	ORPHA:2828
HP:0031943	Akathisia	6622	SNCA	ORPHA:2828
HP:0031943	Akathisia	5420	PODXL	ORPHA:2828
HP:0031943	Akathisia	65018	PINK1	ORPHA:2828
HP:0031943	Akathisia	8867	SYNJ1	ORPHA:2828
HP:0031943	Akathisia	5071	PRKN	ORPHA:2828
HP:0031943	Akathisia	7555	CNBP	ORPHA:606
HP:0031943	Akathisia	4747	NEFL	ORPHA:101085
HP:0031943	Akathisia	2395	FXN	ORPHA:95
HP:0031943	Akathisia	9927	MFN2	ORPHA:99947
HP:0031943	Akathisia	83550	GPR101	ORPHA:963
HP:0031943	Akathisia	9049	AIP	ORPHA:963
HP:0031943	Akathisia	6314	ATXN7	ORPHA:94147
HP:0031943	Akathisia	5524	PTPA	OMIM:620482
HP:0031943	Akathisia	55361	PI4K2A	OMIM:620732
HP:0031944	Pleural thickening	29969	MDFIC	OMIM:620014
HP:0031944	Pleural thickening	10568	SLC34A2	ORPHA:60025
HP:0031944	Pleural thickening	29775	CARD10	OMIM:619632
HP:0031945	Elevated circulating N,N-dimethylglycine concentration	29958	DMGDH	OMIM:605850
HP:0031946	Elevated urinary N,N-dimethylglycine level	29958	DMGDH	OMIM:605850
HP:0031947	Tongue tremor	22880	MORC2	ORPHA:466768
HP:0031947	Tongue tremor	26011	TENM4	OMIM:616736
HP:0031947	Tongue tremor	4604	MYBPC1	OMIM:618524
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	9698	PUM1	OMIM:620719
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	10743	RAI1	OMIM:182290
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	7021	TFAP2B	ORPHA:46627
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	3481	IGF2	OMIM:180860
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	51199	NIN	ORPHA:319675
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	51199	NIN	OMIM:614851
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	7474	WNT5A	OMIM:180700
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	1855	DVL1	OMIM:180700
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	22827	PUF60	ORPHA:508488
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	6910	TBX5	OMIM:142900
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	3239	HOXD13	OMIM:186000
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	3239	HOXD13	ORPHA:93409
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	10847	SRCAP	OMIM:136140
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	2077	ERF	OMIM:617180
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	860	RUNX2	OMIM:119600
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	860	RUNX2	OMIM:156510
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	2783	GNB2	OMIM:619503
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	5932	RBBP8	OMIM:251255
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	59341	TRPV4	OMIM:606835
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	59341	TRPV4	ORPHA:93314
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	59341	TRPV4	ORPHA:85169
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	55777	MBD5	OMIM:156200
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	4613	MYCN	ORPHA:391641
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	4613	MYCN	OMIM:620748
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	4613	MYCN	OMIM:164280
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	1836	SLC26A2	OMIM:256050
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	1300	COL10A1	OMIM:156500
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	8200	GDF5	ORPHA:63442
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	8200	GDF5	ORPHA:93396
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	8200	GDF5	ORPHA:93384
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	8200	GDF5	ORPHA:93388
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	650	BMP2	ORPHA:93396
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	658	BMPR1B	ORPHA:93396
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	658	BMPR1B	ORPHA:93384
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	658	BMPR1B	ORPHA:93388
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	5745	PTH1R	OMIM:600002
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	2261	FGFR3	ORPHA:15
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	2261	FGFR3	OMIM:602849
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	5422	POLA1	OMIM:301030
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	55697	VAC14	ORPHA:3472
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	652	BMP4	OMIM:607932
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	9742	IFT140	OMIM:266920
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	4920	ROR2	OMIM:113000
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	5144	PDE4D	ORPHA:439822
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	8085	KMT2D	ORPHA:2322
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	7403	KDM6A	ORPHA:2322
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	25871	NEPRO	OMIM:618853
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	51053	GMNN	OMIM:616835
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	5116	PCNT	OMIM:210720
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	22995	CEP152	OMIM:613823
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	57572	DOCK6	OMIM:614219
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	55081	IFT57	OMIM:617927
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	407975	MIR17HG	ORPHA:391646
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	4297	KMT2A	OMIM:605130
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	1280	COL2A1	OMIM:271700
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	2263	FGFR2	OMIM:101600
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	2260	FGFR1	OMIM:101600
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	84295	PHF6	OMIM:301900
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	3209	HOXA13	OMIM:140000
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	3209	HOXA13	ORPHA:2438
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	9451	EIF2AK3	OMIM:226980
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	526	ATP6V1B2	OMIM:124480
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	2122	MECOM	OMIM:616738
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	50814	NSDHL	OMIM:308050
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	27152	INTU	OMIM:617926
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	90459	ERI1	OMIM:620662
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	9896	FIG4	OMIM:216340
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	3549	IHH	OMIM:112500
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	727857	BHLHA9	ORPHA:157801
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	9791	PTDSS1	OMIM:151050
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	9241	NOG	OMIM:611377
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	9241	NOG	OMIM:185800
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	51715	RAB23	OMIM:201000
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	2697	GJA1	ORPHA:2710
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	1954	MEGF8	OMIM:614976
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	4000	LMNA	OMIM:610140
HP:0005819	Short middle phalanx of finger	9698	PUM1	OMIM:620719
HP:0005819	Short middle phalanx of finger	10743	RAI1	OMIM:182290
HP:0005819	Short middle phalanx of finger	7021	TFAP2B	ORPHA:46627
HP:0005819	Short middle phalanx of finger	3481	IGF2	OMIM:180860
HP:0005819	Short middle phalanx of finger	51199	NIN	ORPHA:319675
HP:0005819	Short middle phalanx of finger	51199	NIN	OMIM:614851
HP:0005819	Short middle phalanx of finger	7474	WNT5A	OMIM:180700
HP:0005819	Short middle phalanx of finger	1855	DVL1	OMIM:180700
HP:0005819	Short middle phalanx of finger	9241	NOG	OMIM:186500
HP:0005819	Short middle phalanx of finger	22827	PUF60	ORPHA:508488
HP:0005819	Short middle phalanx of finger	6910	TBX5	OMIM:142900
HP:0005819	Short middle phalanx of finger	3239	HOXD13	OMIM:186000
HP:0005819	Short middle phalanx of finger	3239	HOXD13	ORPHA:93409
HP:0005819	Short middle phalanx of finger	10847	SRCAP	OMIM:136140
HP:0005819	Short middle phalanx of finger	2077	ERF	OMIM:617180
HP:0005819	Short middle phalanx of finger	860	RUNX2	OMIM:119600
HP:0005819	Short middle phalanx of finger	860	RUNX2	OMIM:156510
HP:0005819	Short middle phalanx of finger	2783	GNB2	OMIM:619503
HP:0005819	Short middle phalanx of finger	2697	GJA1	OMIM:164200
HP:0005819	Short middle phalanx of finger	5932	RBBP8	OMIM:251255
HP:0005819	Short middle phalanx of finger	59341	TRPV4	OMIM:606835
HP:0005819	Short middle phalanx of finger	59341	TRPV4	ORPHA:93314
HP:0005819	Short middle phalanx of finger	59341	TRPV4	ORPHA:85169
HP:0005819	Short middle phalanx of finger	55777	MBD5	OMIM:156200
HP:0005819	Short middle phalanx of finger	4613	MYCN	ORPHA:391641
HP:0005819	Short middle phalanx of finger	4613	MYCN	OMIM:620748
HP:0005819	Short middle phalanx of finger	4613	MYCN	OMIM:164280
HP:0005819	Short middle phalanx of finger	1836	SLC26A2	OMIM:256050
HP:0005819	Short middle phalanx of finger	1300	COL10A1	OMIM:156500
HP:0005819	Short middle phalanx of finger	8200	GDF5	ORPHA:63442
HP:0005819	Short middle phalanx of finger	8200	GDF5	ORPHA:93396
HP:0005819	Short middle phalanx of finger	8200	GDF5	ORPHA:93384
HP:0005819	Short middle phalanx of finger	8200	GDF5	ORPHA:93388
HP:0005819	Short middle phalanx of finger	650	BMP2	ORPHA:93396
HP:0005819	Short middle phalanx of finger	658	BMPR1B	ORPHA:93396
HP:0005819	Short middle phalanx of finger	658	BMPR1B	ORPHA:93384
HP:0005819	Short middle phalanx of finger	658	BMPR1B	ORPHA:93388
HP:0005819	Short middle phalanx of finger	5745	PTH1R	OMIM:600002
HP:0005819	Short middle phalanx of finger	2261	FGFR3	ORPHA:15
HP:0005819	Short middle phalanx of finger	2261	FGFR3	OMIM:602849
HP:0005819	Short middle phalanx of finger	5422	POLA1	OMIM:301030
HP:0005819	Short middle phalanx of finger	9896	FIG4	ORPHA:3472
HP:0005819	Short middle phalanx of finger	55697	VAC14	ORPHA:3472
HP:0005819	Short middle phalanx of finger	652	BMP4	OMIM:607932
HP:0005819	Short middle phalanx of finger	3549	IHH	OMIM:607778
HP:0005819	Short middle phalanx of finger	3549	IHH	ORPHA:93388
HP:0005819	Short middle phalanx of finger	9742	IFT140	OMIM:266920
HP:0005819	Short middle phalanx of finger	4920	ROR2	OMIM:113000
HP:0005819	Short middle phalanx of finger	5144	PDE4D	ORPHA:439822
HP:0005819	Short middle phalanx of finger	8085	KMT2D	ORPHA:2322
HP:0005819	Short middle phalanx of finger	7403	KDM6A	ORPHA:2322
HP:0005819	Short middle phalanx of finger	25871	NEPRO	OMIM:618853
HP:0005819	Short middle phalanx of finger	51053	GMNN	OMIM:616835
HP:0005819	Short middle phalanx of finger	5116	PCNT	OMIM:210720
HP:0005819	Short middle phalanx of finger	22995	CEP152	OMIM:613823
HP:0005819	Short middle phalanx of finger	57572	DOCK6	OMIM:614219
HP:0005819	Short middle phalanx of finger	55081	IFT57	OMIM:617927
HP:0005819	Short middle phalanx of finger	407975	MIR17HG	ORPHA:391646
HP:0005819	Short middle phalanx of finger	4297	KMT2A	OMIM:605130
HP:0005819	Short middle phalanx of finger	1280	COL2A1	OMIM:271700
HP:0005819	Short middle phalanx of finger	2263	FGFR2	OMIM:101600
HP:0005819	Short middle phalanx of finger	2260	FGFR1	OMIM:101600
HP:0005819	Short middle phalanx of finger	84295	PHF6	OMIM:301900
HP:0005819	Short middle phalanx of finger	3209	HOXA13	OMIM:140000
HP:0005819	Short middle phalanx of finger	3209	HOXA13	ORPHA:2438
HP:0005819	Short middle phalanx of finger	9451	EIF2AK3	OMIM:226980
HP:0005819	Short middle phalanx of finger	2122	MECOM	OMIM:616738
HP:0005819	Short middle phalanx of finger	27152	INTU	OMIM:617926
HP:0005819	Short middle phalanx of finger	90459	ERI1	OMIM:620662
HP:0005817	Postaxial polysyndactyly of foot	83479	DDX59	ORPHA:2919
HP:0005817	Postaxial polysyndactyly of foot	4750	NEK1	OMIM:263520
HP:0009880	Broad distal phalanges of all fingers	9469	CHST3	OMIM:245600
HP:0009880	Broad distal phalanges of all fingers	26229	B3GAT3	OMIM:245600
HP:0009880	Broad distal phalanges of all fingers	55764	IFT122	OMIM:218330
HP:0005815	Supernumerary ribs	2627	GATA6	OMIM:600001
HP:0005815	Supernumerary ribs	2627	GATA6	ORPHA:2255
HP:0005815	Supernumerary ribs	22827	PUF60	ORPHA:508488
HP:0005815	Supernumerary ribs	860	RUNX2	OMIM:119600
HP:0005815	Supernumerary ribs	10262	SF3B4	OMIM:154400
HP:0005815	Supernumerary ribs	5159	PDGFRB	OMIM:601812
HP:0005815	Supernumerary ribs	29123	ANKRD11	OMIM:148050
HP:0005815	Supernumerary ribs	29123	ANKRD11	ORPHA:2332
HP:0005815	Supernumerary ribs	6651	SON	OMIM:617140
HP:0005815	Supernumerary ribs	6651	SON	ORPHA:500150
HP:0005815	Supernumerary ribs	2719	GPC3	OMIM:312870
HP:0005815	Supernumerary ribs	2239	GPC4	OMIM:312870
HP:0005815	Supernumerary ribs	9939	RBM8A	ORPHA:3320
HP:0005815	Supernumerary ribs	9939	RBM8A	OMIM:274000
HP:0005815	Supernumerary ribs	10992	SF3B2	OMIM:164210
HP:0005815	Supernumerary ribs	55081	IFT57	OMIM:617927
HP:0005815	Supernumerary ribs	8517	IKBKG	ORPHA:464
HP:0005815	Supernumerary ribs	8517	IKBKG	OMIM:308300
HP:0005815	Supernumerary ribs	6497	SKI	OMIM:182212
HP:0005815	Supernumerary ribs	4094	MAF	ORPHA:1272
HP:0005815	Supernumerary ribs	5077	PAX3	OMIM:193500
HP:0005815	Supernumerary ribs	10651	MTX2	OMIM:619127
HP:0005815	Supernumerary ribs	3899	AFF3	OMIM:619297
HP:0005815	Supernumerary ribs	10220	GDF11	OMIM:619122
HP:0005815	Supernumerary ribs	25836	NIPBL	OMIM:122470
HP:0005815	Supernumerary ribs	7046	TGFBR1	OMIM:609192
HP:0005815	Supernumerary ribs	60	ACTB	ORPHA:64755
HP:0005815	Supernumerary ribs	4990	SIX6	OMIM:206900
HP:0005815	Supernumerary ribs	6657	SOX2	OMIM:206900
HP:0005815	Supernumerary ribs	286	ANK1	ORPHA:251066
HP:0005815	Supernumerary ribs	6231	RPS26	OMIM:613309
HP:0005815	Supernumerary ribs	6911	TBX6	OMIM:122600
HP:0005815	Supernumerary ribs	5727	PTCH1	OMIM:109400
HP:0009473	Joint contracture of the hand	64093	SMOC1	OMIM:206920
HP:0009473	Joint contracture of the hand	64093	SMOC1	ORPHA:1106
HP:0009473	Joint contracture of the hand	7317	UBA1	ORPHA:1145
HP:0009473	Joint contracture of the hand	1292	COL6A2	OMIM:620725
HP:0009473	Joint contracture of the hand	1292	COL6A2	ORPHA:610
HP:0009473	Joint contracture of the hand	3868	KRT16	ORPHA:2199
HP:0009473	Joint contracture of the hand	3857	KRT9	ORPHA:2199
HP:0009473	Joint contracture of the hand	3848	KRT1	ORPHA:2199
HP:0009473	Joint contracture of the hand	1293	COL6A3	ORPHA:610
HP:0009473	Joint contracture of the hand	4313	MMP2	OMIM:259600
HP:0009473	Joint contracture of the hand	55628	ZNF407	OMIM:619557
HP:0009473	Joint contracture of the hand	23219	FBXO28	OMIM:619777
HP:0009473	Joint contracture of the hand	84265	POLR3GL	OMIM:619234
HP:0009473	Joint contracture of the hand	10297	APC2	ORPHA:821
HP:0009473	Joint contracture of the hand	80204	FBXO11	OMIM:618089
HP:0009473	Joint contracture of the hand	3798	KIF5A	ORPHA:100991
HP:0009473	Joint contracture of the hand	825	CAPN3	ORPHA:267
HP:0009473	Joint contracture of the hand	51305	KCNK9	ORPHA:166108
HP:0009473	Joint contracture of the hand	170689	ADAMTS15	OMIM:620545
HP:0009473	Joint contracture of the hand	6329	SCN4A	OMIM:620351
HP:0009473	Joint contracture of the hand	51114	ZDHHC9	OMIM:300799
HP:0009473	Joint contracture of the hand	10664	CTCF	ORPHA:363611
HP:0009473	Joint contracture of the hand	219854	TMEM218	OMIM:619562
HP:0009473	Joint contracture of the hand	23291	FBXW11	OMIM:618914
HP:0009473	Joint contracture of the hand	79912	PYROXD1	OMIM:617258
HP:0009473	Joint contracture of the hand	9757	KMT2B	OMIM:619934
HP:0009473	Joint contracture of the hand	3720	JARID2	OMIM:620098
HP:0009473	Joint contracture of the hand	10765	KDM5B	OMIM:618109
HP:0009473	Joint contracture of the hand	10093	ARPC4	OMIM:620141
HP:0009473	Joint contracture of the hand	25942	SIN3A	OMIM:613406
HP:0009473	Joint contracture of the hand	11011	TLK2	OMIM:618050
HP:0009473	Joint contracture of the hand	6909	TBX2	OMIM:618223
HP:0009473	Joint contracture of the hand	90459	ERI1	OMIM:620662
HP:0009473	Joint contracture of the hand	80816	ASXL3	OMIM:615485
HP:0009473	Joint contracture of the hand	81857	MED25	ORPHA:464738
HP:0009473	Joint contracture of the hand	8243	SMC1A	OMIM:301044
HP:0009473	Joint contracture of the hand	1277	COL1A1	OMIM:130060
HP:0009473	Joint contracture of the hand	23327	NEDD4L	OMIM:617201
HP:0009473	Joint contracture of the hand	8985	PLOD3	OMIM:612394
HP:0009473	Joint contracture of the hand	2074	ERCC6	OMIM:214150
HP:0009473	Joint contracture of the hand	1718	DHCR24	OMIM:602398
HP:0009473	Joint contracture of the hand	10466	COG5	ORPHA:263487
HP:0009473	Joint contracture of the hand	5447	POR	OMIM:201750
HP:0009473	Joint contracture of the hand	54880	BCOR	OMIM:309800
HP:0009473	Joint contracture of the hand	8260	NAA10	OMIM:309800
HP:0009473	Joint contracture of the hand	8838	CCN6	OMIM:208230
HP:0009473	Joint contracture of the hand	8838	CCN6	ORPHA:1159
HP:0009473	Joint contracture of the hand	2737	GLI3	OMIM:175700
HP:0009473	Joint contracture of the hand	1001	CDH3	OMIM:225280
HP:0009473	Joint contracture of the hand	9231	DLG5	OMIM:620703
HP:0009473	Joint contracture of the hand	84942	WDR73	OMIM:251300
HP:0009473	Joint contracture of the hand	9719	ADAMTSL2	OMIM:231050
HP:0009473	Joint contracture of the hand	5830	PEX5	OMIM:214110
HP:0009473	Joint contracture of the hand	4952	OCRL	OMIM:309000
HP:0009473	Joint contracture of the hand	1235	CCR6	ORPHA:220402
HP:0009473	Joint contracture of the hand	79932	KIAA0319L	ORPHA:220402
HP:0009473	Joint contracture of the hand	1490	CCN2	ORPHA:220402
HP:0009473	Joint contracture of the hand	3663	IRF5	ORPHA:220402
HP:0009473	Joint contracture of the hand	857	CAV1	ORPHA:220402
HP:0009473	Joint contracture of the hand	3123	HLA-DRB1	ORPHA:220402
HP:0009473	Joint contracture of the hand	1303	COL12A1	ORPHA:536516
HP:0009473	Joint contracture of the hand	91179	SCARF2	OMIM:600920
HP:0009473	Joint contracture of the hand	51715	RAB23	OMIM:201000
HP:0009473	Joint contracture of the hand	113179	ADAT3	ORPHA:363528
HP:0009473	Joint contracture of the hand	4920	ROR2	OMIM:113000
HP:0009473	Joint contracture of the hand	22880	MORC2	ORPHA:466768
HP:0009473	Joint contracture of the hand	58	ACTA1	OMIM:620278
HP:0009473	Joint contracture of the hand	9968	MED12	OMIM:305450
HP:0009473	Joint contracture of the hand	9215	LARGE1	OMIM:608840
HP:0009473	Joint contracture of the hand	2273	FHL1	OMIM:300280
HP:0009473	Joint contracture of the hand	126792	B3GALT6	OMIM:271640
HP:0009473	Joint contracture of the hand	126792	B3GALT6	OMIM:615349
HP:0009473	Joint contracture of the hand	7169	TPM2	OMIM:108120
HP:0009473	Joint contracture of the hand	139285	AMER1	OMIM:300373
HP:0009473	Joint contracture of the hand	8626	TP63	OMIM:603543
HP:0009473	Joint contracture of the hand	63895	PIEZO2	OMIM:248700
HP:0009473	Joint contracture of the hand	6497	SKI	OMIM:182212
HP:0009473	Joint contracture of the hand	10084	PQBP1	OMIM:309500
HP:0009473	Joint contracture of the hand	4621	MYH3	OMIM:193700
HP:0009473	Joint contracture of the hand	7390	UROS	OMIM:263700
HP:0009473	Joint contracture of the hand	4998	ORC1	OMIM:224690
HP:0009473	Joint contracture of the hand	10381	TUBB3	OMIM:600638
HP:0009473	Joint contracture of the hand	1272	CNTN1	OMIM:612540
HP:0009473	Joint contracture of the hand	9487	PIGL	OMIM:280000
HP:0009473	Joint contracture of the hand	3572	IL6ST	OMIM:618523
HP:0009473	Joint contracture of the hand	2146	EZH2	OMIM:277590
HP:0009473	Joint contracture of the hand	7048	TGFBR2	OMIM:610168
HP:0009473	Joint contracture of the hand	57211	ADGRG6	OMIM:616503
HP:0009473	Joint contracture of the hand	2316	FLNA	ORPHA:1826
HP:0009473	Joint contracture of the hand	6885	MAP3K7	ORPHA:1826
HP:0009473	Joint contracture of the hand	3339	HSPG2	OMIM:255800
HP:0009473	Joint contracture of the hand	147372	CCBE1	OMIM:235510
HP:0009473	Joint contracture of the hand	5077	PAX3	OMIM:148820
HP:0009473	Joint contracture of the hand	10195	ALG3	OMIM:601110
HP:0009473	Joint contracture of the hand	257	ALX3	OMIM:136760
HP:0009473	Joint contracture of the hand	3239	HOXD13	OMIM:186300
HP:0009473	Joint contracture of the hand	6913	TBX15	OMIM:260660
HP:0009473	Joint contracture of the hand	51651	PTRH2	ORPHA:456312
HP:0009473	Joint contracture of the hand	26053	AUTS2	ORPHA:352490
HP:0009473	Joint contracture of the hand	1301	COL11A1	OMIM:228520
HP:0009473	Joint contracture of the hand	91252	SLC39A13	OMIM:612350
HP:0009473	Joint contracture of the hand	4604	MYBPC1	OMIM:614335
HP:0009473	Joint contracture of the hand	57449	PLEKHG5	OMIM:611067
HP:0009473	Joint contracture of the hand	3178	HNRNPA1	OMIM:610099
HP:0009473	Joint contracture of the hand	54332	GDAP1	ORPHA:99948
HP:0009473	Joint contracture of the hand	5376	PMP22	ORPHA:90658
HP:0009473	Joint contracture of the hand	28982	FLVCR1	OMIM:609033
HP:0009473	Joint contracture of the hand	26227	PHGDH	OMIM:256520
HP:0009473	Joint contracture of the hand	6134	RPL10	OMIM:300998
HP:0009473	Joint contracture of the hand	1889	ECE1	OMIM:613870
HP:0009473	Joint contracture of the hand	4010	LMX1B	ORPHA:2614
HP:0009473	Joint contracture of the hand	26092	TOR1AIP1	OMIM:617072
HP:0009473	Joint contracture of the hand	6662	SOX9	OMIM:114290
HP:0009473	Joint contracture of the hand	3425	IDUA	OMIM:607015
HP:0009473	Joint contracture of the hand	4297	KMT2A	OMIM:605130
HP:0009473	Joint contracture of the hand	1280	COL2A1	ORPHA:485
HP:0009473	Joint contracture of the hand	6840	SVIL	OMIM:619040
HP:0009473	Joint contracture of the hand	55315	SLC29A3	OMIM:602782
HP:0009473	Joint contracture of the hand	342035	GLDN	OMIM:617194
HP:0009473	Joint contracture of the hand	3861	KRT14	ORPHA:69087
HP:0009473	Joint contracture of the hand	57190	SELENON	ORPHA:2020
HP:0009473	Joint contracture of the hand	4633	MYL2	ORPHA:2020
HP:0009473	Joint contracture of the hand	3679	ITGA7	ORPHA:2020
HP:0009473	Joint contracture of the hand	9200	HACD1	ORPHA:2020
HP:0009473	Joint contracture of the hand	7170	TPM3	ORPHA:2020
HP:0009473	Joint contracture of the hand	51776	MAP3K20	ORPHA:2020
HP:0009473	Joint contracture of the hand	5159	PDGFRB	OMIM:601812
HP:0009473	Joint contracture of the hand	388015	RTL1	ORPHA:254528
HP:0009473	Joint contracture of the hand	8788	DLK1	ORPHA:254528
HP:0009473	Joint contracture of the hand	55384	MEG3	ORPHA:254528
HP:0009473	Joint contracture of the hand	4921	DDR2	OMIM:618175
HP:0009473	Joint contracture of the hand	23345	SYNE1	OMIM:618484
HP:0009473	Joint contracture of the hand	23345	SYNE1	ORPHA:319332
HP:0009473	Joint contracture of the hand	3977	LIFR	ORPHA:3206
HP:0009473	Joint contracture of the hand	2697	GJA1	ORPHA:1010
HP:0009473	Joint contracture of the hand	5696	PSMB8	OMIM:256040
HP:0009473	Joint contracture of the hand	4747	NEFL	ORPHA:101085
HP:0009473	Joint contracture of the hand	1859	DYRK1A	ORPHA:464311
HP:0009473	Joint contracture of the hand	203859	ANO5	ORPHA:206549
HP:0009473	Joint contracture of the hand	64423	INF2	OMIM:614455
HP:0009473	Joint contracture of the hand	6709	SPTAN1	OMIM:620528
HP:0009473	Joint contracture of the hand	10280	SIGMAR1	OMIM:605726
HP:0009473	Joint contracture of the hand	84572	GNPTG	OMIM:252605
HP:0009473	Joint contracture of the hand	10397	NDRG1	OMIM:601455
HP:0009473	Joint contracture of the hand	79158	GNPTAB	OMIM:252600
HP:0009473	Joint contracture of the hand	3315	HSPB1	OMIM:606595
HP:0009473	Joint contracture of the hand	8566	PDXK	OMIM:618511
HP:0009473	Joint contracture of the hand	84342	COG8	OMIM:611182
HP:0009473	Joint contracture of the hand	3098	HK1	OMIM:605285
HP:0009473	Joint contracture of the hand	4000	LMNA	OMIM:181350
HP:0009473	Joint contracture of the hand	4000	LMNA	OMIM:212112
HP:0009473	Joint contracture of the hand	9150	CTDP1	ORPHA:48431
HP:0009473	Joint contracture of the hand	9898	UBAP2L	OMIM:620494
HP:0009473	Joint contracture of the hand	1291	COL6A1	OMIM:158810
HP:0009473	Joint contracture of the hand	2218	FKTN	ORPHA:272
HP:0009473	Joint contracture of the hand	259232	NALCN	ORPHA:2053
HP:0009473	Joint contracture of the hand	259232	NALCN	ORPHA:1146
HP:0009473	Joint contracture of the hand	8294	H4C9	OMIM:619951
HP:0009473	Joint contracture of the hand	3094	HINT1	ORPHA:324442
HP:0009473	Joint contracture of the hand	1947	EFNB1	ORPHA:1520
HP:0009473	Joint contracture of the hand	7355	SLC35A2	ORPHA:356961
HP:0009473	Joint contracture of the hand	118429	ANTXR2	ORPHA:2176
HP:0009473	Joint contracture of the hand	9241	NOG	ORPHA:3250
HP:0009473	Joint contracture of the hand	8200	GDF5	ORPHA:3250
HP:0009473	Joint contracture of the hand	54968	TMEM70	ORPHA:1194
HP:0009473	Joint contracture of the hand	613	BCR	ORPHA:261330
HP:0009473	Joint contracture of the hand	1399	CRKL	ORPHA:261330
HP:0009473	Joint contracture of the hand	5594	MAPK1	ORPHA:261330
HP:0009473	Joint contracture of the hand	84466	MEGF10	OMIM:614399
HP:0009473	Joint contracture of the hand	72	ACTG2	ORPHA:2604
HP:0009473	Joint contracture of the hand	2201	FBN2	OMIM:121050
HP:0009473	Joint contracture of the hand	2201	FBN2	ORPHA:115
HP:0009473	Joint contracture of the hand	10216	PRG4	ORPHA:2848
HP:0009473	Joint contracture of the hand	3508	IGHMBP2	OMIM:604320
HP:0009473	Joint contracture of the hand	6926	TBX3	ORPHA:3138
HP:0009473	Joint contracture of the hand	51360	MBTPS2	ORPHA:2273
HP:0009473	Joint contracture of the hand	9469	CHST3	OMIM:143095
HP:0009473	Joint contracture of the hand	3423	IDS	ORPHA:217085
HP:0009473	Joint contracture of the hand	3423	IDS	ORPHA:217093
HP:0009473	Joint contracture of the hand	64359	NXN	ORPHA:1507
HP:0009473	Joint contracture of the hand	64127	NOD2	OMIM:186580
HP:0009473	Joint contracture of the hand	64127	NOD2	ORPHA:90340
HP:0009473	Joint contracture of the hand	6999	TDO2	OMIM:600627
HP:0009473	Joint contracture of the hand	1302	COL11A2	ORPHA:2021
HP:0009473	Joint contracture of the hand	4929	NR4A2	ORPHA:1617
HP:0009473	Joint contracture of the hand	10716	TBR1	ORPHA:1617
HP:0009473	Joint contracture of the hand	4593	MUSK	OMIM:208150
HP:0009473	Joint contracture of the hand	4593	MUSK	ORPHA:994
HP:0009473	Joint contracture of the hand	56006	SMG9	OMIM:616920
HP:0009473	Joint contracture of the hand	1857	DVL3	ORPHA:3107
HP:0009473	Joint contracture of the hand	7474	WNT5A	ORPHA:3107
HP:0009473	Joint contracture of the hand	1855	DVL1	ORPHA:3107
HP:0009473	Joint contracture of the hand	2535	FZD2	ORPHA:3107
HP:0009473	Joint contracture of the hand	9508	ADAMTS3	ORPHA:2136
HP:0009473	Joint contracture of the hand	79633	FAT4	ORPHA:2136
HP:0009473	Joint contracture of the hand	5189	PEX1	ORPHA:3220
HP:0009473	Joint contracture of the hand	5190	PEX6	ORPHA:3220
HP:0009473	Joint contracture of the hand	5590	PRKCZ	ORPHA:1606
HP:0009473	Joint contracture of the hand	2563	GABRD	ORPHA:1606
HP:0009473	Joint contracture of the hand	23013	SPEN	ORPHA:1606
HP:0009473	Joint contracture of the hand	8510	MMP23B	ORPHA:1606
HP:0009473	Joint contracture of the hand	7798	LUZP1	ORPHA:1606
HP:0009473	Joint contracture of the hand	10630	PDPN	ORPHA:1606
HP:0009473	Joint contracture of the hand	10277	UBE4B	ORPHA:1606
HP:0009473	Joint contracture of the hand	8514	KCNAB2	ORPHA:1606
HP:0009473	Joint contracture of the hand	473	RERE	ORPHA:1606
HP:0009473	Joint contracture of the hand	63976	PRDM16	ORPHA:1606
HP:0009473	Joint contracture of the hand	54897	CASZ1	ORPHA:1606
HP:0009473	Joint contracture of the hand	8517	IKBKG	ORPHA:464
HP:0009473	Joint contracture of the hand	10436	EMG1	ORPHA:1270
HP:0009473	Joint contracture of the hand	57492	ARID1B	ORPHA:251056
HP:0009473	Joint contracture of the hand	11128	POLR3A	ORPHA:3455
HP:0009473	Joint contracture of the hand	2239	GPC4	ORPHA:373
HP:0009473	Joint contracture of the hand	2719	GPC3	ORPHA:373
HP:0009473	Joint contracture of the hand	55612	FERMT1	ORPHA:2908
HP:0009473	Joint contracture of the hand	23483	TGDS	ORPHA:1388
HP:0009473	Joint contracture of the hand	2260	FGFR1	OMIM:166250
HP:0009473	Joint contracture of the hand	7140	TNNT3	ORPHA:1146
HP:0009473	Joint contracture of the hand	7136	TNNI2	ORPHA:1146
HP:0009473	Joint contracture of the hand	7136	TNNI2	OMIM:601680
HP:0009473	Joint contracture of the hand	117581	TWIST2	ORPHA:920
HP:0009473	Joint contracture of the hand	64324	NSD1	ORPHA:3447
HP:0009473	Joint contracture of the hand	23512	SUZ12	ORPHA:3447
HP:0009473	Joint contracture of the hand	1723	DHODH	ORPHA:246
HP:0009473	Joint contracture of the hand	54903	MKS1	OMIM:249000
HP:0009473	Joint contracture of the hand	22930	RAB3GAP1	OMIM:619420
HP:0009473	Joint contracture of the hand	7046	TGFBR1	ORPHA:60030
HP:0009473	Joint contracture of the hand	10526	IPO8	ORPHA:60030
HP:0009473	Joint contracture of the hand	7042	TGFB2	ORPHA:60030
HP:0009473	Joint contracture of the hand	7043	TGFB3	ORPHA:60030
HP:0009473	Joint contracture of the hand	4087	SMAD2	ORPHA:60030
HP:0009473	Joint contracture of the hand	4088	SMAD3	ORPHA:60030
HP:0009473	Joint contracture of the hand	4088	SMAD3	ORPHA:284984
HP:0009473	Joint contracture of the hand	3897	L1CAM	ORPHA:2466
HP:0009473	Joint contracture of the hand	2245	FGD1	ORPHA:915
HP:0009473	Joint contracture of the hand	2200	FBN1	ORPHA:2462
HP:0009473	Joint contracture of the hand	7227	TRPS1	ORPHA:77258
HP:0009473	Joint contracture of the hand	27238	GPKOW	ORPHA:2570
HP:0009473	Joint contracture of the hand	23102	TBC1D2B	OMIM:619323
HP:0009473	Joint contracture of the hand	2068	ERCC2	OMIM:610756
HP:0009473	Joint contracture of the hand	2068	ERCC2	ORPHA:1466
HP:0009473	Joint contracture of the hand	65109	UPF3B	ORPHA:776
HP:0009473	Joint contracture of the hand	2067	ERCC1	OMIM:610758
HP:0009473	Joint contracture of the hand	2067	ERCC1	ORPHA:1466
HP:0009473	Joint contracture of the hand	114548	NLRP3	ORPHA:575
HP:0009473	Joint contracture of the hand	2073	ERCC5	ORPHA:1466
HP:0009473	Joint contracture of the hand	134701	RIPPLY2	ORPHA:2311
HP:0009473	Joint contracture of the hand	10683	DLL3	ORPHA:2311
HP:0009473	Joint contracture of the hand	3955	LFNG	ORPHA:2311
HP:0009473	Joint contracture of the hand	84667	HES7	ORPHA:2311
HP:0009473	Joint contracture of the hand	145873	MESP2	ORPHA:2311
HP:0009473	Joint contracture of the hand	81620	CDT1	ORPHA:2554
HP:0009473	Joint contracture of the hand	5000	ORC4	ORPHA:2554
HP:0009473	Joint contracture of the hand	23594	ORC6	ORPHA:2554
HP:0009473	Joint contracture of the hand	8318	CDC45	ORPHA:2554
HP:0009473	Joint contracture of the hand	990	CDC6	ORPHA:2554
HP:0009473	Joint contracture of the hand	51053	GMNN	ORPHA:2554
HP:0009473	Joint contracture of the hand	64327	LMBR1	ORPHA:93405
HP:0009473	Joint contracture of the hand	6469	SHH	ORPHA:93405
HP:0009473	Joint contracture of the hand	1954	MEGF8	ORPHA:65759
HP:0009473	Joint contracture of the hand	55605	KIF21A	ORPHA:994
HP:0009473	Joint contracture of the hand	4927	NUP88	ORPHA:994
HP:0009473	Joint contracture of the hand	7846	TUBA1A	ORPHA:994
HP:0009473	Joint contracture of the hand	4654	MYOD1	ORPHA:994
HP:0009473	Joint contracture of the hand	54551	MAGEL2	ORPHA:994
HP:0009473	Joint contracture of the hand	5913	RAPSN	ORPHA:994
HP:0009473	Joint contracture of the hand	6572	SLC18A3	ORPHA:994
HP:0009473	Joint contracture of the hand	285489	DOK7	ORPHA:994
HP:0009473	Joint contracture of the hand	3914	LAMB3	OMIM:226650
HP:0009473	Joint contracture of the hand	8092	ALX1	ORPHA:306542
HP:0009473	Joint contracture of the hand	29895	MYL11	OMIM:619110
HP:0009473	Joint contracture of the hand	64840	PORCN	ORPHA:2092
HP:0009473	Joint contracture of the hand	23443	SLC35A3	OMIM:615553
HP:0009473	Joint contracture of the hand	285590	SH3PXD2B	ORPHA:137834
HP:0009473	Joint contracture of the hand	1836	SLC26A2	ORPHA:628
HP:0009473	Joint contracture of the hand	25914	RTTN	ORPHA:468631
HP:0009473	Joint contracture of the hand	9935	MAFB	ORPHA:2774
HP:0009473	Joint contracture of the hand	28952	CCDC22	OMIM:300963
HP:0009473	Joint contracture of the hand	8450	CUL4B	ORPHA:85293
HP:0009473	Joint contracture of the hand	8242	KDM5C	ORPHA:85279
HP:0009473	Joint contracture of the hand	59341	TRPV4	ORPHA:2635
HP:0009473	Joint contracture of the hand	2261	FGFR3	ORPHA:85164
HP:0009473	Joint contracture of the hand	10269	ZMPSTE24	ORPHA:1662
HP:0009473	Joint contracture of the hand	1146	CHRNG	ORPHA:2990
HP:0009473	Joint contracture of the hand	23522	KAT6B	ORPHA:3047
HP:0009473	Joint contracture of the hand	26123	TCTN3	ORPHA:2753
HP:0009473	Joint contracture of the hand	64131	XYLT1	ORPHA:1425
HP:0009473	Joint contracture of the hand	124583	CANT1	ORPHA:1425
HP:0009473	Joint contracture of the hand	55790	CSGALNACT1	ORPHA:1425
HP:0009473	Joint contracture of the hand	23529	CLCF1	ORPHA:1545
HP:0009473	Joint contracture of the hand	9244	CRLF1	ORPHA:1545
HP:0009473	Joint contracture of the hand	79693	YRDC	ORPHA:2065
HP:0009473	Joint contracture of the hand	51002	TPRKB	ORPHA:2065
HP:0009473	Joint contracture of the hand	55644	OSGEP	ORPHA:2065
HP:0009473	Joint contracture of the hand	57122	NUP107	ORPHA:2065
HP:0009473	Joint contracture of the hand	10785	WDR4	ORPHA:2065
HP:0009473	Joint contracture of the hand	55746	NUP133	ORPHA:2065
HP:0009473	Joint contracture of the hand	84520	GON7	ORPHA:2065
HP:0009473	Joint contracture of the hand	112858	TP53RK	ORPHA:2065
HP:0009473	Joint contracture of the hand	8270	LAGE3	ORPHA:2065
HP:0009473	Joint contracture of the hand	56916	SMARCAD1	ORPHA:1658
HP:0010713	1-5 toe syndactyly	2737	GLI3	OMIM:174700
HP:0009464	Ulnar deviation of the 2nd finger	658	BMPR1B	OMIM:112600
HP:0009464	Ulnar deviation of the 2nd finger	650	BMP2	OMIM:112600
HP:0009464	Ulnar deviation of the 2nd finger	8200	GDF5	OMIM:112600
HP:0009464	Ulnar deviation of the 2nd finger	8200	GDF5	OMIM:113100
HP:0009464	Ulnar deviation of the 2nd finger	51651	PTRH2	OMIM:616263
HP:0009464	Ulnar deviation of the 2nd finger	51651	PTRH2	ORPHA:456312
HP:0009464	Ulnar deviation of the 2nd finger	3209	HOXA13	OMIM:140000
HP:0009464	Ulnar deviation of the 2nd finger	29123	ANKRD11	OMIM:148050
HP:0009464	Ulnar deviation of the 2nd finger	23483	TGDS	OMIM:616145
HP:0031950	Usual interstitial pneumonia	7015	TERT	OMIM:614742
HP:0031950	Usual interstitial pneumonia	7015	TERT	ORPHA:2032
HP:0031950	Usual interstitial pneumonia	7015	TERT	OMIM:178500
HP:0031950	Usual interstitial pneumonia	6440	SFTPC	ORPHA:2032
HP:0031950	Usual interstitial pneumonia	6440	SFTPC	OMIM:178500
HP:0031950	Usual interstitial pneumonia	729238	SFTPA2	ORPHA:2032
HP:0031950	Usual interstitial pneumonia	729238	SFTPA2	OMIM:178500
HP:0031950	Usual interstitial pneumonia	79991	STN1	ORPHA:2032
HP:0031950	Usual interstitial pneumonia	653509	SFTPA1	ORPHA:2032
HP:0031950	Usual interstitial pneumonia	653509	SFTPA1	OMIM:619611
HP:0031950	Usual interstitial pneumonia	21	ABCA3	ORPHA:2032
HP:0031950	Usual interstitial pneumonia	21	ABCA3	OMIM:610921
HP:0031950	Usual interstitial pneumonia	1832	DSP	ORPHA:2032
HP:0031950	Usual interstitial pneumonia	727897	MUC5B	ORPHA:2032
HP:0031950	Usual interstitial pneumonia	727897	MUC5B	OMIM:178500
HP:0031950	Usual interstitial pneumonia	10144	FAM13A	ORPHA:2032
HP:0031950	Usual interstitial pneumonia	23250	ATP11A	ORPHA:2032
HP:0031950	Usual interstitial pneumonia	91039	DPP9	ORPHA:2032
HP:0031950	Usual interstitial pneumonia	51750	RTEL1	ORPHA:2032
HP:0031950	Usual interstitial pneumonia	51750	RTEL1	OMIM:616373
HP:0031950	Usual interstitial pneumonia	7012	TERC	ORPHA:2032
HP:0031950	Usual interstitial pneumonia	5073	PARN	ORPHA:2032
HP:0031950	Usual interstitial pneumonia	25913	POT1	OMIM:620367
HP:0031951	Nocturnal seizures	1137	CHRNA4	ORPHA:98784
HP:0031951	Nocturnal seizures	1135	CHRNA2	ORPHA:98784
HP:0031951	Nocturnal seizures	1135	CHRNA2	OMIM:610353
HP:0031951	Nocturnal seizures	57010	CABP4	ORPHA:98784
HP:0031951	Nocturnal seizures	1141	CHRNB2	ORPHA:98784
HP:0031951	Nocturnal seizures	57582	KCNT1	ORPHA:98784
HP:0031951	Nocturnal seizures	1392	CRH	ORPHA:98784
HP:0031951	Nocturnal seizures	9681	DEPDC5	ORPHA:98784
HP:0031951	Nocturnal seizures	9681	DEPDC5	ORPHA:101046
HP:0031951	Nocturnal seizures	9681	DEPDC5	OMIM:604364
HP:0031951	Nocturnal seizures	9681	DEPDC5	ORPHA:98820
HP:0031951	Nocturnal seizures	5649	RELN	ORPHA:101046
HP:0031951	Nocturnal seizures	9211	LGI1	ORPHA:101046
HP:0031951	Nocturnal seizures	112939	NACC1	OMIM:617393
HP:0031951	Nocturnal seizures	6711	SPTBN1	OMIM:619475
HP:0031951	Nocturnal seizures	10243	GPHN	OMIM:149400
HP:0031951	Nocturnal seizures	2741	GLRA1	OMIM:149400
HP:0031951	Nocturnal seizures	6304	SATB1	OMIM:619229
HP:0031951	Nocturnal seizures	2903	GRIN2A	ORPHA:98818
HP:0031951	Nocturnal seizures	3781	KCNN2	OMIM:619725
HP:0031951	Nocturnal seizures	8131	NPRL3	ORPHA:98820
HP:0031951	Nocturnal seizures	10641	NPRL2	ORPHA:98820
HP:0031954	Dystonic gait	5354	PLP1	ORPHA:280210
HP:0031954	Dystonic gait	5354	PLP1	ORPHA:280219
HP:0031954	Dystonic gait	23065	EMC1	ORPHA:480898
HP:0031955	Antalgic gait	4613	MYCN	ORPHA:635
HP:0031955	Antalgic gait	238	ALK	ORPHA:635
HP:0031955	Antalgic gait	389421	LIN28B	ORPHA:635
HP:0031955	Antalgic gait	4004	LMO1	ORPHA:635
HP:0031955	Antalgic gait	57531	HACE1	ORPHA:635
HP:0031955	Antalgic gait	8929	PHOX2B	ORPHA:635
HP:0031956	Elevated circulating aspartate aminotransferase concentration	91949	COG7	OMIM:608779
HP:0031956	Elevated circulating aspartate aminotransferase concentration	3376	IARS1	OMIM:617093
HP:0031956	Elevated circulating aspartate aminotransferase concentration	286053	NSMCE2	OMIM:617253
HP:0031956	Elevated circulating aspartate aminotransferase concentration	4952	OCRL	OMIM:300555
HP:0031956	Elevated circulating aspartate aminotransferase concentration	8482	SEMA7A	OMIM:619874
HP:0031956	Elevated circulating aspartate aminotransferase concentration	57128	LYRM4	OMIM:615595
HP:0031956	Elevated circulating aspartate aminotransferase concentration	2629	GBA1	ORPHA:85212
HP:0031956	Elevated circulating aspartate aminotransferase concentration	65080	MRPL44	OMIM:615395
HP:0031956	Elevated circulating aspartate aminotransferase concentration	570	BAAT	OMIM:619232
HP:0031956	Elevated circulating aspartate aminotransferase concentration	11222	MRPL3	OMIM:614582
HP:0031956	Elevated circulating aspartate aminotransferase concentration	7381	UQCRB	OMIM:615158
HP:0031956	Elevated circulating aspartate aminotransferase concentration	5009	OTC	OMIM:311250
HP:0031956	Elevated circulating aspartate aminotransferase concentration	5580	PRKCD	OMIM:615559
HP:0031956	Elevated circulating aspartate aminotransferase concentration	5828	PEX2	OMIM:614866
HP:0031956	Elevated circulating aspartate aminotransferase concentration	435	ASL	OMIM:207900
HP:0031956	Elevated circulating aspartate aminotransferase concentration	2592	GALT	OMIM:230400
HP:0031956	Elevated circulating aspartate aminotransferase concentration	338	APOB	OMIM:615558
HP:0031956	Elevated circulating aspartate aminotransferase concentration	3032	HADHB	OMIM:620300
HP:0031956	Elevated circulating aspartate aminotransferase concentration	9420	CYP7B1	OMIM:613812
HP:0031956	Elevated circulating aspartate aminotransferase concentration	9420	CYP7B1	ORPHA:79302
HP:0031956	Elevated circulating aspartate aminotransferase concentration	23600	AMACR	OMIM:214950
HP:0031956	Elevated circulating aspartate aminotransferase concentration	6609	SMPD1	OMIM:257200
HP:0031956	Elevated circulating aspartate aminotransferase concentration	123264	SLC51B	OMIM:619481
HP:0031956	Elevated circulating aspartate aminotransferase concentration	10165	SLC25A13	OMIM:605814
HP:0031956	Elevated circulating aspartate aminotransferase concentration	197131	UBR1	OMIM:243800
HP:0031956	Elevated circulating aspartate aminotransferase concentration	55610	VPS50	OMIM:619685
HP:0031956	Elevated circulating aspartate aminotransferase concentration	7504	XK	OMIM:300842
HP:0031956	Elevated circulating aspartate aminotransferase concentration	6514	SLC2A2	OMIM:227810
HP:0031956	Elevated circulating aspartate aminotransferase concentration	6514	SLC2A2	ORPHA:2088
HP:0031956	Elevated circulating aspartate aminotransferase concentration	6341	SCO1	OMIM:619048
HP:0031956	Elevated circulating aspartate aminotransferase concentration	4141	MARS1	OMIM:615486
HP:0031956	Elevated circulating aspartate aminotransferase concentration	3162	HMOX1	OMIM:614034
HP:0031956	Elevated circulating aspartate aminotransferase concentration	54931	TRMT10C	OMIM:616974
HP:0031956	Elevated circulating aspartate aminotransferase concentration	5184	PEPD	OMIM:170100
HP:0031956	Elevated circulating aspartate aminotransferase concentration	131118	DNAJC19	OMIM:610198
HP:0031956	Elevated circulating aspartate aminotransferase concentration	2542	SLC37A4	OMIM:619525
HP:0031956	Elevated circulating aspartate aminotransferase concentration	8309	ACOX2	OMIM:617308
HP:0031956	Elevated circulating aspartate aminotransferase concentration	9409	PEX16	OMIM:614876
HP:0031956	Elevated circulating aspartate aminotransferase concentration	7486	WRN	OMIM:277700
HP:0031956	Elevated circulating aspartate aminotransferase concentration	5698	PSMB9	OMIM:620796
HP:0031956	Elevated circulating aspartate aminotransferase concentration	540	ATP7B	OMIM:277900
HP:0031956	Elevated circulating aspartate aminotransferase concentration	3030	HADHA	OMIM:609015
HP:0031956	Elevated circulating aspartate aminotransferase concentration	56652	TWNK	OMIM:271245
HP:0031956	Elevated circulating aspartate aminotransferase concentration	2273	FHL1	OMIM:300280
HP:0031956	Elevated circulating aspartate aminotransferase concentration	1376	CPT2	OMIM:608836
HP:0031956	Elevated circulating aspartate aminotransferase concentration	79989	IFT56	OMIM:619534
HP:0031956	Elevated circulating aspartate aminotransferase concentration	51116	MRPS2	OMIM:617950
HP:0031956	Elevated circulating aspartate aminotransferase concentration	537	ATP6AP1	OMIM:300972
HP:0031956	Elevated circulating aspartate aminotransferase concentration	9215	LARGE1	OMIM:613154
HP:0031956	Elevated circulating aspartate aminotransferase concentration	50619	DEF6	OMIM:619573
HP:0031956	Elevated circulating aspartate aminotransferase concentration	348	APOE	OMIM:269600
HP:0031956	Elevated circulating aspartate aminotransferase concentration	3988	LIPA	OMIM:278000
HP:0031956	Elevated circulating aspartate aminotransferase concentration	11232	POLG2	OMIM:618528
HP:0031956	Elevated circulating aspartate aminotransferase concentration	9487	PIGL	OMIM:280000
HP:0031956	Elevated circulating aspartate aminotransferase concentration	859	CAV3	OMIM:614321
HP:0031956	Elevated circulating aspartate aminotransferase concentration	191	AHCY	OMIM:613752
HP:0031956	Elevated circulating aspartate aminotransferase concentration	6240	RRM1	OMIM:620647
HP:0031956	Elevated circulating aspartate aminotransferase concentration	1374	CPT1A	OMIM:255120
HP:0031956	Elevated circulating aspartate aminotransferase concentration	4358	MPV17	OMIM:256810
HP:0031956	Elevated circulating aspartate aminotransferase concentration	5236	PGM1	OMIM:614921
HP:0031956	Elevated circulating aspartate aminotransferase concentration	54532	USP53	OMIM:619658
HP:0031956	Elevated circulating aspartate aminotransferase concentration	5195	PEX14	OMIM:614887
HP:0031956	Elevated circulating aspartate aminotransferase concentration	147007	TMEM199	OMIM:616829
HP:0031956	Elevated circulating aspartate aminotransferase concentration	55858	TMEM165	OMIM:614727
HP:0031956	Elevated circulating aspartate aminotransferase concentration	7841	MOGS	OMIM:606056
HP:0031956	Elevated circulating aspartate aminotransferase concentration	2683	B4GALT1	OMIM:620364
HP:0031956	Elevated circulating aspartate aminotransferase concentration	2683	B4GALT1	OMIM:607091
HP:0031956	Elevated circulating aspartate aminotransferase concentration	124454	EARS2	OMIM:614924
HP:0031956	Elevated circulating aspartate aminotransferase concentration	1807	DPYS	OMIM:222748
HP:0031956	Elevated circulating aspartate aminotransferase concentration	3158	HMGCS2	OMIM:605911
HP:0031956	Elevated circulating aspartate aminotransferase concentration	8802	SUCLG1	OMIM:245400
HP:0031956	Elevated circulating aspartate aminotransferase concentration	3155	HMGCL	OMIM:246450
HP:0031956	Elevated circulating aspartate aminotransferase concentration	4000	LMNA	OMIM:151660
HP:0031956	Elevated circulating aspartate aminotransferase concentration	84342	COG8	OMIM:611182
HP:0031956	Elevated circulating aspartate aminotransferase concentration	64121	RRAGC	OMIM:620609
HP:0031956	Elevated circulating aspartate aminotransferase concentration	9054	NFS1	OMIM:619386
HP:0031956	Elevated circulating aspartate aminotransferase concentration	113220	KIF12	OMIM:619662
HP:0031956	Elevated circulating aspartate aminotransferase concentration	1794	DOCK2	OMIM:616433
HP:0031956	Elevated circulating aspartate aminotransferase concentration	23230	VPS13A	ORPHA:2388
HP:0031956	Elevated circulating aspartate aminotransferase concentration	9971	NR1H4	OMIM:617049
HP:0031956	Elevated circulating aspartate aminotransferase concentration	128989	TANGO2	OMIM:616878
HP:0031956	Elevated circulating aspartate aminotransferase concentration	4645	MYO5B	OMIM:619868
HP:0031956	Elevated circulating aspartate aminotransferase concentration	6811	STX5	OMIM:620454
HP:0031956	Elevated circulating aspartate aminotransferase concentration	3156	HMGCR	OMIM:620375
HP:0031956	Elevated circulating aspartate aminotransferase concentration	4067	LYN	OMIM:620376
HP:0031956	Elevated circulating aspartate aminotransferase concentration	26276	VPS33B	OMIM:620010
HP:0031956	Elevated circulating aspartate aminotransferase concentration	6584	SLC22A5	OMIM:212140
HP:0031956	Elevated circulating aspartate aminotransferase concentration	6309	SC5D	OMIM:607330
HP:0031958	Spastic paraparetic gait	547	KIF1A	ORPHA:101010
HP:0031958	Spastic paraparetic gait	271	AMPD2	ORPHA:401805
HP:0031958	Spastic paraparetic gait	271	AMPD2	OMIM:615686
HP:0031958	Spastic paraparetic gait	10159	ATP6AP2	ORPHA:363654
HP:0031958	Spastic paraparetic gait	6472	SHMT2	OMIM:619121
HP:0031958	Spastic paraparetic gait	25793	FBXO7	OMIM:260300
HP:0031958	Spastic paraparetic gait	23516	SLC39A14	OMIM:617013
HP:0031958	Spastic paraparetic gait	23516	SLC39A14	ORPHA:521406
HP:0031958	Spastic paraparetic gait	23204	ARL6IP1	OMIM:615685
HP:0031958	Spastic paraparetic gait	23204	ARL6IP1	ORPHA:401780
HP:0031958	Spastic paraparetic gait	54463	RETREG1	OMIM:613115
HP:0031958	Spastic paraparetic gait	2074	ERCC6	OMIM:278800
HP:0031958	Spastic paraparetic gait	10667	FARS2	ORPHA:466722
HP:0031958	Spastic paraparetic gait	3798	KIF5A	ORPHA:100991
HP:0031959	Leg dystonia	53371	NUP54	OMIM:620427
HP:0031959	Leg dystonia	60	ACTB	OMIM:607371
HP:0031959	Leg dystonia	11315	PARK7	OMIM:606324
HP:0031959	Leg dystonia	9757	KMT2B	ORPHA:589618
HP:0031959	Leg dystonia	2512	FTL	ORPHA:157846
HP:0031959	Leg dystonia	64601	VPS16	OMIM:619291
HP:0031959	Leg dystonia	84340	GFM2	ORPHA:565624
HP:0031959	Leg dystonia	84909	AOPEP	OMIM:619565
HP:0004692	4-5 toe syndactyly	3239	HOXD13	OMIM:186000
HP:0004692	4-5 toe syndactyly	3239	HOXD13	OMIM:186300
HP:0004692	4-5 toe syndactyly	6299	SALL1	OMIM:107480
HP:0004692	4-5 toe syndactyly	4613	MYCN	ORPHA:391641
HP:0004692	4-5 toe syndactyly	4613	MYCN	OMIM:164280
HP:0004692	4-5 toe syndactyly	51776	MAP3K20	OMIM:616890
HP:0004692	4-5 toe syndactyly	51776	MAP3K20	ORPHA:488232
HP:0004692	4-5 toe syndactyly	6913	TBX15	OMIM:260660
HP:0004692	4-5 toe syndactyly	54888	NSUN2	OMIM:611091
HP:0004692	4-5 toe syndactyly	10262	SF3B4	OMIM:154400
HP:0004692	4-5 toe syndactyly	50814	NSDHL	OMIM:308050
HP:0004692	4-5 toe syndactyly	92002	CCNQ	OMIM:300707
HP:0004692	4-5 toe syndactyly	81607	NECTIN4	OMIM:613573
HP:0004692	4-5 toe syndactyly	79583	TMEM231	OMIM:614970
HP:0004692	4-5 toe syndactyly	9894	TELO2	ORPHA:488642
HP:0004692	4-5 toe syndactyly	5932	RBBP8	OMIM:251255
HP:0005824	Clinodactyly of the 2nd toe	10236	HNRNPR	OMIM:620073
HP:0031960	Arm dystonia	57679	ALS2	OMIM:205100
HP:0031960	Arm dystonia	57679	ALS2	ORPHA:300605
HP:0031960	Arm dystonia	2521	FUS	ORPHA:300605
HP:0031960	Arm dystonia	80208	SPG11	ORPHA:300605
HP:0031960	Arm dystonia	10280	SIGMAR1	ORPHA:300605
HP:0031960	Arm dystonia	10558	SPTLC1	ORPHA:300605
HP:0031960	Arm dystonia	9757	KMT2B	ORPHA:589618
HP:0031960	Arm dystonia	2512	FTL	ORPHA:157846
HP:0031960	Arm dystonia	64601	VPS16	OMIM:619291
HP:0031960	Arm dystonia	55361	PI4K2A	OMIM:620732
HP:0031960	Arm dystonia	84909	AOPEP	OMIM:619565
HP:0031960	Arm dystonia	478	ATP1A3	OMIM:601338
HP:0031960	Arm dystonia	1737	DLAT	ORPHA:79244
HP:0031960	Arm dystonia	63982	ANO3	OMIM:615034
HP:0031960	Arm dystonia	23345	SYNE1	ORPHA:88644
HP:0031961	Abnormal serum anion gap	3712	IVD	ORPHA:33
HP:0031961	Abnormal serum anion gap	3155	HMGCL	OMIM:246450
HP:0031961	Abnormal serum anion gap	50640	PNPLA8	OMIM:251950
HP:0031961	Abnormal serum anion gap	513	ATP5F1D	OMIM:618120
HP:0031961	Abnormal serum anion gap	11222	MRPL3	OMIM:614582
HP:0031961	Abnormal serum anion gap	166785	MMAA	OMIM:251100
HP:0031962	Elevated serum anion gap	3712	IVD	ORPHA:33
HP:0031962	Elevated serum anion gap	3155	HMGCL	OMIM:246450
HP:0031962	Elevated serum anion gap	50640	PNPLA8	OMIM:251950
HP:0031962	Elevated serum anion gap	513	ATP5F1D	OMIM:618120
HP:0031962	Elevated serum anion gap	11222	MRPL3	OMIM:614582
HP:0031962	Elevated serum anion gap	166785	MMAA	OMIM:251100
HP:0031964	Elevated circulating alanine aminotransferase concentration	91949	COG7	OMIM:608779
HP:0031964	Elevated circulating alanine aminotransferase concentration	3376	IARS1	OMIM:617093
HP:0031964	Elevated circulating alanine aminotransferase concentration	286053	NSMCE2	OMIM:617253
HP:0031964	Elevated circulating alanine aminotransferase concentration	4952	OCRL	OMIM:300555
HP:0031964	Elevated circulating alanine aminotransferase concentration	8482	SEMA7A	OMIM:619874
HP:0031964	Elevated circulating alanine aminotransferase concentration	23019	CNOT1	OMIM:618500
HP:0031964	Elevated circulating alanine aminotransferase concentration	57128	LYRM4	OMIM:615595
HP:0031964	Elevated circulating alanine aminotransferase concentration	65080	MRPL44	OMIM:615395
HP:0031964	Elevated circulating alanine aminotransferase concentration	570	BAAT	OMIM:619232
HP:0031964	Elevated circulating alanine aminotransferase concentration	11222	MRPL3	OMIM:614582
HP:0031964	Elevated circulating alanine aminotransferase concentration	7381	UQCRB	OMIM:615158
HP:0031964	Elevated circulating alanine aminotransferase concentration	132	ADK	OMIM:614300
HP:0031964	Elevated circulating alanine aminotransferase concentration	5009	OTC	OMIM:311250
HP:0031964	Elevated circulating alanine aminotransferase concentration	5580	PRKCD	OMIM:615559
HP:0031964	Elevated circulating alanine aminotransferase concentration	5828	PEX2	OMIM:614866
HP:0031964	Elevated circulating alanine aminotransferase concentration	2592	GALT	OMIM:230400
HP:0031964	Elevated circulating alanine aminotransferase concentration	338	APOB	OMIM:615558
HP:0031964	Elevated circulating alanine aminotransferase concentration	3032	HADHB	OMIM:620300
HP:0031964	Elevated circulating alanine aminotransferase concentration	9420	CYP7B1	OMIM:613812
HP:0031964	Elevated circulating alanine aminotransferase concentration	9420	CYP7B1	ORPHA:79302
HP:0031964	Elevated circulating alanine aminotransferase concentration	6609	SMPD1	OMIM:257200
HP:0031964	Elevated circulating alanine aminotransferase concentration	5314	PKHD1	ORPHA:53035
HP:0031964	Elevated circulating alanine aminotransferase concentration	123264	SLC51B	OMIM:619481
HP:0031964	Elevated circulating alanine aminotransferase concentration	10165	SLC25A13	OMIM:605814
HP:0031964	Elevated circulating alanine aminotransferase concentration	10165	SLC25A13	OMIM:603471
HP:0031964	Elevated circulating alanine aminotransferase concentration	197131	UBR1	OMIM:243800
HP:0031964	Elevated circulating alanine aminotransferase concentration	55610	VPS50	OMIM:619685
HP:0031964	Elevated circulating alanine aminotransferase concentration	7504	XK	OMIM:300842
HP:0031964	Elevated circulating alanine aminotransferase concentration	6514	SLC2A2	OMIM:227810
HP:0031964	Elevated circulating alanine aminotransferase concentration	6514	SLC2A2	ORPHA:2088
HP:0031964	Elevated circulating alanine aminotransferase concentration	6341	SCO1	OMIM:619048
HP:0031964	Elevated circulating alanine aminotransferase concentration	2548	GAA	ORPHA:308552
HP:0031964	Elevated circulating alanine aminotransferase concentration	4141	MARS1	OMIM:615486
HP:0031964	Elevated circulating alanine aminotransferase concentration	3162	HMOX1	OMIM:614034
HP:0031964	Elevated circulating alanine aminotransferase concentration	54931	TRMT10C	OMIM:616974
HP:0031964	Elevated circulating alanine aminotransferase concentration	131118	DNAJC19	OMIM:610198
HP:0031964	Elevated circulating alanine aminotransferase concentration	226	ALDOA	OMIM:611881
HP:0031964	Elevated circulating alanine aminotransferase concentration	2542	SLC37A4	OMIM:619525
HP:0031964	Elevated circulating alanine aminotransferase concentration	8309	ACOX2	OMIM:617308
HP:0031964	Elevated circulating alanine aminotransferase concentration	7486	WRN	OMIM:277700
HP:0031964	Elevated circulating alanine aminotransferase concentration	5698	PSMB9	OMIM:620796
HP:0031964	Elevated circulating alanine aminotransferase concentration	540	ATP7B	OMIM:277900
HP:0031964	Elevated circulating alanine aminotransferase concentration	56652	TWNK	OMIM:271245
HP:0031964	Elevated circulating alanine aminotransferase concentration	1376	CPT2	OMIM:608836
HP:0031964	Elevated circulating alanine aminotransferase concentration	55687	TRMU	OMIM:613070
HP:0031964	Elevated circulating alanine aminotransferase concentration	79989	IFT56	OMIM:619534
HP:0031964	Elevated circulating alanine aminotransferase concentration	51116	MRPS2	OMIM:617950
HP:0031964	Elevated circulating alanine aminotransferase concentration	537	ATP6AP1	OMIM:300972
HP:0031964	Elevated circulating alanine aminotransferase concentration	5105	PCK1	OMIM:261680
HP:0031964	Elevated circulating alanine aminotransferase concentration	50619	DEF6	OMIM:619573
HP:0031964	Elevated circulating alanine aminotransferase concentration	348	APOE	OMIM:269600
HP:0031964	Elevated circulating alanine aminotransferase concentration	3988	LIPA	OMIM:278000
HP:0031964	Elevated circulating alanine aminotransferase concentration	11232	POLG2	OMIM:618528
HP:0031964	Elevated circulating alanine aminotransferase concentration	9487	PIGL	OMIM:280000
HP:0031964	Elevated circulating alanine aminotransferase concentration	191	AHCY	OMIM:613752
HP:0031964	Elevated circulating alanine aminotransferase concentration	6240	RRM1	OMIM:620647
HP:0031964	Elevated circulating alanine aminotransferase concentration	1374	CPT1A	OMIM:255120
HP:0031964	Elevated circulating alanine aminotransferase concentration	26007	TKFC	OMIM:618805
HP:0031964	Elevated circulating alanine aminotransferase concentration	4358	MPV17	OMIM:256810
HP:0031964	Elevated circulating alanine aminotransferase concentration	5236	PGM1	OMIM:614921
HP:0031964	Elevated circulating alanine aminotransferase concentration	54532	USP53	OMIM:619658
HP:0031964	Elevated circulating alanine aminotransferase concentration	5195	PEX14	OMIM:614887
HP:0031964	Elevated circulating alanine aminotransferase concentration	147007	TMEM199	OMIM:616829
HP:0031964	Elevated circulating alanine aminotransferase concentration	55858	TMEM165	OMIM:614727
HP:0031964	Elevated circulating alanine aminotransferase concentration	8772	FADD	OMIM:613759
HP:0031964	Elevated circulating alanine aminotransferase concentration	124454	EARS2	OMIM:614924
HP:0031964	Elevated circulating alanine aminotransferase concentration	1807	DPYS	OMIM:222748
HP:0031964	Elevated circulating alanine aminotransferase concentration	3158	HMGCS2	OMIM:605911
HP:0031964	Elevated circulating alanine aminotransferase concentration	8802	SUCLG1	OMIM:245400
HP:0031964	Elevated circulating alanine aminotransferase concentration	3155	HMGCL	OMIM:246450
HP:0031964	Elevated circulating alanine aminotransferase concentration	587	BCAT2	OMIM:618850
HP:0031964	Elevated circulating alanine aminotransferase concentration	5424	POLD1	OMIM:615381
HP:0031964	Elevated circulating alanine aminotransferase concentration	4000	LMNA	OMIM:151660
HP:0031964	Elevated circulating alanine aminotransferase concentration	64121	RRAGC	OMIM:620609
HP:0031964	Elevated circulating alanine aminotransferase concentration	9054	NFS1	OMIM:619386
HP:0031964	Elevated circulating alanine aminotransferase concentration	113220	KIF12	OMIM:619662
HP:0031964	Elevated circulating alanine aminotransferase concentration	1794	DOCK2	OMIM:616433
HP:0031964	Elevated circulating alanine aminotransferase concentration	23230	VPS13A	ORPHA:2388
HP:0031964	Elevated circulating alanine aminotransferase concentration	9971	NR1H4	OMIM:617049
HP:0031964	Elevated circulating alanine aminotransferase concentration	128989	TANGO2	OMIM:616878
HP:0031964	Elevated circulating alanine aminotransferase concentration	6773	STAT2	OMIM:616636
HP:0031964	Elevated circulating alanine aminotransferase concentration	4645	MYO5B	OMIM:619868
HP:0031964	Elevated circulating alanine aminotransferase concentration	3156	HMGCR	OMIM:620375
HP:0031964	Elevated circulating alanine aminotransferase concentration	4067	LYN	OMIM:620376
HP:0031964	Elevated circulating alanine aminotransferase concentration	26276	VPS33B	OMIM:620010
HP:0031964	Elevated circulating alanine aminotransferase concentration	6584	SLC22A5	OMIM:212140
HP:0031964	Elevated circulating alanine aminotransferase concentration	6309	SC5D	OMIM:607330
HP:0031965	Increased RBC distribution width	10661	KLF1	OMIM:613673
HP:0031965	Increased RBC distribution width	2694	CBLIF	OMIM:261000
HP:0031965	Increased RBC distribution width	8328	GFI1B	OMIM:187900
HP:0031965	Increased RBC distribution width	2623	GATA1	OMIM:314050
HP:0005832	Dysharmonic delayed bone age	80152	CENPT	OMIM:618702
HP:0005831	Type B brachydactyly	9241	NOG	ORPHA:140908
HP:0005831	Type B brachydactyly	4920	ROR2	OMIM:113000
HP:0031969	Reduced blood urea nitrogen	1497	CTNS	OMIM:219800
HP:0031969	Reduced blood urea nitrogen	554	AVPR2	OMIM:300539
HP:0005830	Flexion contracture of toe	1146	CHRNG	OMIM:265000
HP:0005830	Flexion contracture of toe	2316	FLNA	OMIM:300244
HP:0005830	Flexion contracture of toe	1832	DSP	ORPHA:158687
HP:0005830	Flexion contracture of toe	3728	JUP	ORPHA:158687
HP:0005830	Flexion contracture of toe	91179	SCARF2	OMIM:600920
HP:0005830	Flexion contracture of toe	63895	PIEZO2	OMIM:114300
HP:0005830	Flexion contracture of toe	29895	MYL11	OMIM:619110
HP:0005830	Flexion contracture of toe	2737	GLI3	OMIM:175700
HP:0005830	Flexion contracture of toe	2261	FGFR3	OMIM:610474
HP:0005830	Flexion contracture of toe	2201	FBN2	OMIM:121050
HP:0005830	Flexion contracture of toe	10216	PRG4	ORPHA:2848
HP:0005830	Flexion contracture of toe	84295	PHF6	ORPHA:127
HP:0005830	Flexion contracture of toe	2273	FHL1	OMIM:300280
HP:0005830	Flexion contracture of toe	4313	MMP2	OMIM:259600
HP:0005830	Flexion contracture of toe	139285	AMER1	OMIM:300373
HP:0005830	Flexion contracture of toe	11160	ERLIN2	ORPHA:209951
HP:0005830	Flexion contracture of toe	55315	SLC29A3	OMIM:602782
HP:0005830	Flexion contracture of toe	2200	FBN1	OMIM:608328
HP:0005830	Flexion contracture of toe	23556	PIGN	ORPHA:280633
HP:0005830	Flexion contracture of toe	22978	NT5C2	ORPHA:320396
HP:0005830	Flexion contracture of toe	64127	NOD2	OMIM:186580
HP:0005830	Flexion contracture of toe	4621	MYH3	OMIM:193700
HP:0005830	Flexion contracture of toe	23102	TBC1D2B	OMIM:619323
HP:0005830	Flexion contracture of toe	3977	LIFR	OMIM:601559
HP:0005830	Flexion contracture of toe	9150	CTDP1	ORPHA:48431
HP:0005830	Flexion contracture of toe	7043	TGFB3	OMIM:615582
HP:0005830	Flexion contracture of toe	1984	EIF5A	OMIM:619376
HP:0005830	Flexion contracture of toe	5696	PSMB8	OMIM:256040
HP:0005830	Flexion contracture of toe	3339	HSPG2	OMIM:255800
HP:0005830	Flexion contracture of toe	3339	HSPG2	ORPHA:800
HP:0005830	Flexion contracture of toe	2067	ERCC1	OMIM:610758
HP:0005830	Flexion contracture of toe	54880	BCOR	ORPHA:2712
HP:0005830	Flexion contracture of toe	10526	IPO8	OMIM:619472
HP:0005830	Flexion contracture of toe	5528	PPP2R5D	ORPHA:457279
HP:0005897	Severe generalized osteoporosis	1277	COL1A1	OMIM:259420
HP:0005897	Severe generalized osteoporosis	1278	COL1A2	OMIM:259420
HP:0001373	Joint dislocation	2639	GCDH	ORPHA:25
HP:0001373	Joint dislocation	5573	PRKAR1A	ORPHA:950
HP:0001373	Joint dislocation	5144	PDE4D	ORPHA:950
HP:0001373	Joint dislocation	7421	VDR	ORPHA:93160
HP:0001373	Joint dislocation	11285	B4GALT7	OMIM:130070
HP:0001373	Joint dislocation	716	C1S	OMIM:617174
HP:0001373	Joint dislocation	5351	PLOD1	OMIM:225400
HP:0001373	Joint dislocation	5351	PLOD1	ORPHA:1900
HP:0001373	Joint dislocation	9401	RECQL4	ORPHA:221016
HP:0001373	Joint dislocation	9401	RECQL4	OMIM:266280
HP:0001373	Joint dislocation	652	BMP4	ORPHA:828
HP:0001373	Joint dislocation	1836	SLC26A2	ORPHA:628
HP:0001373	Joint dislocation	1776	DNASE1L3	ORPHA:36412
HP:0001373	Joint dislocation	2131	EXT1	ORPHA:502
HP:0001373	Joint dislocation	5885	RAD21	ORPHA:502
HP:0001373	Joint dislocation	7227	TRPS1	ORPHA:502
HP:0001373	Joint dislocation	113189	CHST14	OMIM:601776
HP:0001373	Joint dislocation	6595	SMARCA2	ORPHA:3051
HP:0001373	Joint dislocation	715	C1R	OMIM:130080
HP:0001373	Joint dislocation	284058	KANSL1	ORPHA:363965
HP:0001373	Joint dislocation	284058	KANSL1	ORPHA:363958
HP:0001373	Joint dislocation	1278	COL1A2	ORPHA:230851
HP:0001373	Joint dislocation	1278	COL1A2	OMIM:619120
HP:0001373	Joint dislocation	1278	COL1A2	ORPHA:1899
HP:0001373	Joint dislocation	1289	COL5A1	OMIM:130000
HP:0001373	Joint dislocation	2317	FLNB	ORPHA:1190
HP:0001373	Joint dislocation	55790	CSGALNACT1	OMIM:618870
HP:0001373	Joint dislocation	8085	KMT2D	ORPHA:2322
HP:0001373	Joint dislocation	8085	KMT2D	OMIM:147920
HP:0001373	Joint dislocation	7403	KDM6A	ORPHA:2322
HP:0001373	Joint dislocation	7403	KDM6A	OMIM:147920
HP:0001373	Joint dislocation	124583	CANT1	OMIM:251450
HP:0001373	Joint dislocation	26224	FBXL3	OMIM:606220
HP:0001373	Joint dislocation	6748	SSR4	ORPHA:370927
HP:0001373	Joint dislocation	6748	SSR4	OMIM:300934
HP:0001373	Joint dislocation	4621	MYH3	OMIM:193700
HP:0001373	Joint dislocation	23483	TGDS	OMIM:616145
HP:0001373	Joint dislocation	9469	CHST3	OMIM:143095
HP:0001373	Joint dislocation	9820	CUL7	OMIM:273750
HP:0001373	Joint dislocation	404672	GTF2H5	ORPHA:33364
HP:0001373	Joint dislocation	833	CARS1	ORPHA:33364
HP:0001373	Joint dislocation	2068	ERCC2	ORPHA:33364
HP:0001373	Joint dislocation	7737	RNF113A	ORPHA:33364
HP:0001373	Joint dislocation	136647	MPLKIP	ORPHA:33364
HP:0001373	Joint dislocation	6897	TARS1	ORPHA:33364
HP:0001373	Joint dislocation	16	AARS1	ORPHA:33364
HP:0001373	Joint dislocation	2071	ERCC3	ORPHA:33364
HP:0001373	Joint dislocation	2961	GTF2E2	ORPHA:33364
HP:0001373	Joint dislocation	10225	CD96	ORPHA:1308
HP:0001373	Joint dislocation	9719	ADAMTSL2	ORPHA:1901
HP:0001373	Joint dislocation	9509	ADAMTS2	ORPHA:1901
HP:0001373	Joint dislocation	64131	XYLT1	ORPHA:370930
HP:0001373	Joint dislocation	26123	TCTN3	ORPHA:2753
HP:0001373	Joint dislocation	3081	HGD	ORPHA:56
HP:0001373	Joint dislocation	1186	CLCN7	ORPHA:53
HP:0001373	Joint dislocation	1281	COL3A1	ORPHA:286
HP:0001373	Joint dislocation	171023	ASXL1	ORPHA:97297
HP:0001373	Joint dislocation	171023	ASXL1	OMIM:605039
HP:0001373	Joint dislocation	2743	GLRB	ORPHA:3197
HP:0001373	Joint dislocation	2741	GLRA1	ORPHA:3197
HP:0001373	Joint dislocation	10243	GPHN	ORPHA:3197
HP:0001373	Joint dislocation	84896	ATAD1	ORPHA:3197
HP:0001373	Joint dislocation	9152	SLC6A5	ORPHA:3197
HP:0001373	Joint dislocation	633	BGN	OMIM:300989
HP:0001373	Joint dislocation	1280	COL2A1	ORPHA:2380
HP:0001373	Joint dislocation	1280	COL2A1	ORPHA:85198
HP:0001373	Joint dislocation	7543	ZFX	OMIM:301118
HP:0001373	Joint dislocation	7046	TGFBR1	ORPHA:60030
HP:0001373	Joint dislocation	10526	IPO8	ORPHA:60030
HP:0001373	Joint dislocation	7048	TGFBR2	ORPHA:60030
HP:0001373	Joint dislocation	7042	TGFB2	ORPHA:60030
HP:0001373	Joint dislocation	7043	TGFB3	ORPHA:60030
HP:0001373	Joint dislocation	4087	SMAD2	ORPHA:60030
HP:0001373	Joint dislocation	4088	SMAD3	ORPHA:60030
HP:0001373	Joint dislocation	114548	NLRP3	ORPHA:1451
HP:0001373	Joint dislocation	1134	CHRNA1	OMIM:253290
HP:0001373	Joint dislocation	1146	CHRNG	OMIM:253290
HP:0001373	Joint dislocation	1144	CHRND	OMIM:253290
HP:0001373	Joint dislocation	3930	LBR	OMIM:618019
HP:0001373	Joint dislocation	8883	NAE1	OMIM:620210
HP:0001373	Joint dislocation	165	AEBP1	ORPHA:536532
HP:0001373	Joint dislocation	4982	TNFRSF11B	ORPHA:1416
HP:0001373	Joint dislocation	56172	ANKH	ORPHA:1416
HP:0001373	Joint dislocation	1277	COL1A1	ORPHA:1899
HP:0001373	Joint dislocation	9361	LONP1	OMIM:600373
HP:0001373	Joint dislocation	9361	LONP1	ORPHA:1458
HP:0001373	Joint dislocation	64840	PORCN	OMIM:305600
HP:0001373	Joint dislocation	6628	SNRPB	OMIM:117650
HP:0001373	Joint dislocation	134218	DNAJC21	OMIM:617052
HP:0001373	Joint dislocation	2138	EYA1	OMIM:113650
HP:0001373	Joint dislocation	6495	SIX1	OMIM:113650
HP:0001373	Joint dislocation	84627	ZNF469	OMIM:229200
HP:0001373	Joint dislocation	5048	PAFAH1B1	ORPHA:217385
HP:0001373	Joint dislocation	7531	YWHAE	ORPHA:217385
HP:0001373	Joint dislocation	23363	OBSL1	ORPHA:2616
HP:0001373	Joint dislocation	83987	CCDC8	ORPHA:2616
HP:0001373	Joint dislocation	8195	MKKS	OMIM:236700
HP:0001373	Joint dislocation	1131	CHRM3	ORPHA:2970
HP:0001373	Joint dislocation	1131	CHRM3	OMIM:100100
HP:0001373	Joint dislocation	10060	ABCC9	OMIM:619719
HP:0001373	Joint dislocation	23545	ATP6V0A2	OMIM:219200
HP:0001373	Joint dislocation	23545	ATP6V0A2	ORPHA:357074
HP:0001373	Joint dislocation	23545	ATP6V0A2	ORPHA:2834
HP:0001373	Joint dislocation	23545	ATP6V0A2	OMIM:278250
HP:0001373	Joint dislocation	89910	UBE3B	OMIM:244450
HP:0001373	Joint dislocation	1723	DHODH	OMIM:263750
HP:0001373	Joint dislocation	60482	SLC5A7	ORPHA:98914
HP:0001373	Joint dislocation	4649	MYO9A	ORPHA:98914
HP:0001373	Joint dislocation	1305	COL13A1	ORPHA:98914
HP:0001373	Joint dislocation	1103	CHAT	ORPHA:98914
HP:0001373	Joint dislocation	6576	SLC25A1	ORPHA:98914
HP:0001373	Joint dislocation	6843	VAMP1	ORPHA:98914
HP:0001373	Joint dislocation	375790	AGRN	ORPHA:98914
HP:0001373	Joint dislocation	127833	SYT2	ORPHA:98914
HP:0001373	Joint dislocation	6572	SLC18A3	ORPHA:98914
HP:0001373	Joint dislocation	6616	SNAP25	ORPHA:98914
HP:0001373	Joint dislocation	6904	TBCD	ORPHA:496641
HP:0001373	Joint dislocation	7547	ZIC3	OMIM:306955
HP:0001373	Joint dislocation	2239	GPC4	ORPHA:373
HP:0001373	Joint dislocation	2719	GPC3	ORPHA:373
HP:0001373	Joint dislocation	529	ATP6V1E1	ORPHA:357074
HP:0001373	Joint dislocation	5528	PPP2R5D	ORPHA:457279
HP:0001373	Joint dislocation	5528	PPP2R5D	OMIM:616355
HP:0001373	Joint dislocation	8260	NAA10	OMIM:300855
HP:0001373	Joint dislocation	50814	NSDHL	OMIM:308050
HP:0001373	Joint dislocation	50628	GEMIN4	OMIM:617913
HP:0001373	Joint dislocation	57190	SELENON	ORPHA:2020
HP:0001373	Joint dislocation	4633	MYL2	ORPHA:2020
HP:0001373	Joint dislocation	3679	ITGA7	ORPHA:2020
HP:0001373	Joint dislocation	9200	HACD1	ORPHA:2020
HP:0001373	Joint dislocation	7170	TPM3	ORPHA:2020
HP:0001373	Joint dislocation	7170	TPM3	OMIM:255310
HP:0001373	Joint dislocation	51776	MAP3K20	ORPHA:2020
HP:0001373	Joint dislocation	9427	ECEL1	OMIM:615065
HP:0001373	Joint dislocation	7067	THRA	OMIM:614450
HP:0001373	Joint dislocation	4035	LRP1	OMIM:620690
HP:0001373	Joint dislocation	55703	POLR3B	OMIM:614381
HP:0001373	Joint dislocation	10262	SF3B4	OMIM:154400
HP:0001373	Joint dislocation	10054	UBA2	OMIM:619959
HP:0001373	Joint dislocation	1303	COL12A1	ORPHA:75840
HP:0001373	Joint dislocation	1303	COL12A1	OMIM:616471
HP:0001373	Joint dislocation	1291	COL6A1	ORPHA:75840
HP:0001373	Joint dislocation	1291	COL6A1	OMIM:254090
HP:0001373	Joint dislocation	1292	COL6A2	ORPHA:75840
HP:0001373	Joint dislocation	1292	COL6A2	OMIM:620727
HP:0001373	Joint dislocation	1293	COL6A3	ORPHA:75840
HP:0001373	Joint dislocation	4784	NFIX	ORPHA:447980
HP:0001373	Joint dislocation	6662	SOX9	ORPHA:140
HP:0001373	Joint dislocation	6662	SOX9	OMIM:114290
HP:0001373	Joint dislocation	58	ACTA1	ORPHA:171436
HP:0001373	Joint dislocation	7169	TPM2	ORPHA:171436
HP:0001373	Joint dislocation	4703	NEB	ORPHA:171436
HP:0001373	Joint dislocation	10324	KLHL41	ORPHA:171436
HP:0001373	Joint dislocation	56203	LMOD3	ORPHA:171436
HP:0001373	Joint dislocation	1073	CFL2	ORPHA:171436
HP:0001373	Joint dislocation	6536	SLC6A9	OMIM:617301
HP:0001373	Joint dislocation	1717	DHCR7	ORPHA:818
HP:0001373	Joint dislocation	1717	DHCR7	OMIM:270400
HP:0001373	Joint dislocation	9915	ARNT2	OMIM:615926
HP:0001373	Joint dislocation	79158	GNPTAB	OMIM:252500
HP:0001373	Joint dislocation	79158	GNPTAB	ORPHA:576
HP:0001373	Joint dislocation	4626	MYH8	ORPHA:3377
HP:0001373	Joint dislocation	4626	MYH8	OMIM:158300
HP:0001373	Joint dislocation	1351	COX8A	OMIM:619059
HP:0001373	Joint dislocation	3899	AFF3	OMIM:619297
HP:0001373	Joint dislocation	3572	IL6ST	OMIM:618523
HP:0001373	Joint dislocation	55699	IARS2	ORPHA:436174
HP:0001373	Joint dislocation	55699	IARS2	OMIM:616007
HP:0001373	Joint dislocation	672	BRCA1	ORPHA:84
HP:0001373	Joint dislocation	10459	MAD2L2	ORPHA:84
HP:0001373	Joint dislocation	7516	XRCC2	ORPHA:84
HP:0001373	Joint dislocation	29089	UBE2T	ORPHA:84
HP:0001373	Joint dislocation	675	BRCA2	ORPHA:84
HP:0001373	Joint dislocation	55120	FANCL	ORPHA:84
HP:0001373	Joint dislocation	2177	FANCD2	ORPHA:84
HP:0001373	Joint dislocation	2175	FANCA	ORPHA:84
HP:0001373	Joint dislocation	2187	FANCB	ORPHA:84
HP:0001373	Joint dislocation	2187	FANCB	ORPHA:3412
HP:0001373	Joint dislocation	2176	FANCC	ORPHA:84
HP:0001373	Joint dislocation	2178	FANCE	ORPHA:84
HP:0001373	Joint dislocation	2188	FANCF	ORPHA:84
HP:0001373	Joint dislocation	2189	FANCG	ORPHA:84
HP:0001373	Joint dislocation	5888	RAD51	ORPHA:84
HP:0001373	Joint dislocation	5889	RAD51C	ORPHA:84
HP:0001373	Joint dislocation	55159	RFWD3	ORPHA:84
HP:0001373	Joint dislocation	83990	BRIP1	ORPHA:84
HP:0001373	Joint dislocation	57697	FANCM	ORPHA:84
HP:0001373	Joint dislocation	79728	PALB2	ORPHA:84
HP:0001373	Joint dislocation	84464	SLX4	ORPHA:84
HP:0001373	Joint dislocation	2072	ERCC4	ORPHA:84
HP:0001373	Joint dislocation	55215	FANCI	ORPHA:84
HP:0001373	Joint dislocation	57531	HACE1	ORPHA:464282
HP:0001373	Joint dislocation	57531	HACE1	OMIM:616756
HP:0001373	Joint dislocation	9896	FIG4	ORPHA:3472
HP:0001373	Joint dislocation	9896	FIG4	OMIM:216340
HP:0001373	Joint dislocation	55697	VAC14	ORPHA:3472
HP:0001373	Joint dislocation	860	RUNX2	OMIM:119600
HP:0001373	Joint dislocation	22872	SEC31A	OMIM:618651
HP:0001373	Joint dislocation	10682	EBP	ORPHA:35173
HP:0001373	Joint dislocation	28514	DLL1	ORPHA:93926
HP:0001373	Joint dislocation	28514	DLL1	ORPHA:93924
HP:0001373	Joint dislocation	28514	DLL1	ORPHA:93925
HP:0001373	Joint dislocation	28514	DLL1	ORPHA:220386
HP:0001373	Joint dislocation	2253	FGF8	ORPHA:93926
HP:0001373	Joint dislocation	2253	FGF8	ORPHA:93924
HP:0001373	Joint dislocation	2253	FGF8	ORPHA:93925
HP:0001373	Joint dislocation	2253	FGF8	ORPHA:220386
HP:0001373	Joint dislocation	6496	SIX3	ORPHA:93926
HP:0001373	Joint dislocation	6496	SIX3	ORPHA:93924
HP:0001373	Joint dislocation	6496	SIX3	ORPHA:93925
HP:0001373	Joint dislocation	6496	SIX3	ORPHA:220386
HP:0001373	Joint dislocation	7050	TGIF1	ORPHA:93926
HP:0001373	Joint dislocation	7050	TGIF1	ORPHA:93924
HP:0001373	Joint dislocation	7050	TGIF1	ORPHA:93925
HP:0001373	Joint dislocation	7050	TGIF1	ORPHA:220386
HP:0001373	Joint dislocation	4838	NODAL	ORPHA:93926
HP:0001373	Joint dislocation	4838	NODAL	ORPHA:93924
HP:0001373	Joint dislocation	4838	NODAL	ORPHA:93925
HP:0001373	Joint dislocation	4838	NODAL	ORPHA:220386
HP:0001373	Joint dislocation	6469	SHH	ORPHA:93926
HP:0001373	Joint dislocation	6469	SHH	ORPHA:93924
HP:0001373	Joint dislocation	6469	SHH	ORPHA:93925
HP:0001373	Joint dislocation	6469	SHH	ORPHA:220386
HP:0001373	Joint dislocation	7546	ZIC2	ORPHA:93926
HP:0001373	Joint dislocation	7546	ZIC2	ORPHA:93924
HP:0001373	Joint dislocation	7546	ZIC2	ORPHA:93925
HP:0001373	Joint dislocation	7546	ZIC2	ORPHA:220386
HP:0001373	Joint dislocation	6491	STIL	ORPHA:93926
HP:0001373	Joint dislocation	6491	STIL	ORPHA:93924
HP:0001373	Joint dislocation	6491	STIL	ORPHA:93925
HP:0001373	Joint dislocation	6491	STIL	ORPHA:220386
HP:0001373	Joint dislocation	2619	GAS1	ORPHA:93926
HP:0001373	Joint dislocation	2619	GAS1	ORPHA:93924
HP:0001373	Joint dislocation	2619	GAS1	ORPHA:93925
HP:0001373	Joint dislocation	2619	GAS1	ORPHA:220386
HP:0001373	Joint dislocation	84976	DISP1	ORPHA:93926
HP:0001373	Joint dislocation	84976	DISP1	ORPHA:93924
HP:0001373	Joint dislocation	84976	DISP1	ORPHA:93925
HP:0001373	Joint dislocation	84976	DISP1	ORPHA:220386
HP:0001373	Joint dislocation	2736	GLI2	ORPHA:93926
HP:0001373	Joint dislocation	2736	GLI2	ORPHA:93924
HP:0001373	Joint dislocation	2736	GLI2	ORPHA:93925
HP:0001373	Joint dislocation	2736	GLI2	ORPHA:220386
HP:0001373	Joint dislocation	8928	FOXH1	ORPHA:93926
HP:0001373	Joint dislocation	8928	FOXH1	ORPHA:93924
HP:0001373	Joint dislocation	8928	FOXH1	ORPHA:93925
HP:0001373	Joint dislocation	8928	FOXH1	ORPHA:220386
HP:0001373	Joint dislocation	6997	CRIPTO	ORPHA:93926
HP:0001373	Joint dislocation	6997	CRIPTO	ORPHA:93924
HP:0001373	Joint dislocation	6997	CRIPTO	ORPHA:93925
HP:0001373	Joint dislocation	6997	CRIPTO	ORPHA:220386
HP:0001373	Joint dislocation	5727	PTCH1	ORPHA:93926
HP:0001373	Joint dislocation	5727	PTCH1	ORPHA:93924
HP:0001373	Joint dislocation	5727	PTCH1	ORPHA:93925
HP:0001373	Joint dislocation	5727	PTCH1	ORPHA:220386
HP:0001373	Joint dislocation	50937	CDON	ORPHA:93926
HP:0001373	Joint dislocation	50937	CDON	ORPHA:93924
HP:0001373	Joint dislocation	50937	CDON	ORPHA:93925
HP:0001373	Joint dislocation	50937	CDON	ORPHA:220386
HP:0001373	Joint dislocation	2260	FGFR1	ORPHA:93924
HP:0001373	Joint dislocation	2260	FGFR1	ORPHA:220386
HP:0001373	Joint dislocation	23007	PLCH1	ORPHA:93925
HP:0001373	Joint dislocation	10735	STAG2	ORPHA:93925
HP:0001373	Joint dislocation	10735	STAG2	ORPHA:220386
HP:0001373	Joint dislocation	7468	NSD2	OMIM:194190
HP:0001373	Joint dislocation	10815	CPLX1	OMIM:194190
HP:0001373	Joint dislocation	1487	CTBP1	OMIM:194190
HP:0001373	Joint dislocation	53834	FGFRL1	OMIM:194190
HP:0001373	Joint dislocation	3954	LETM1	OMIM:194190
HP:0001373	Joint dislocation	9487	PIGL	ORPHA:3474
HP:0001373	Joint dislocation	2697	GJA1	OMIM:164200
HP:0001373	Joint dislocation	85301	COL27A1	OMIM:615155
HP:0001373	Joint dislocation	3098	HK1	OMIM:618547
HP:0001373	Joint dislocation	81031	SLC2A10	ORPHA:3342
HP:0001373	Joint dislocation	4952	OCRL	OMIM:309000
HP:0001373	Joint dislocation	4952	OCRL	ORPHA:534
HP:0001373	Joint dislocation	145258	GSC	OMIM:602471
HP:0001373	Joint dislocation	6558	SLC12A2	OMIM:619083
HP:0001373	Joint dislocation	78989	COLEC11	OMIM:265050
HP:0001373	Joint dislocation	78989	COLEC11	ORPHA:293843
HP:0001373	Joint dislocation	3251	HPRT1	OMIM:300322
HP:0001373	Joint dislocation	23187	PHLDB1	OMIM:620639
HP:0001373	Joint dislocation	7140	TNNT3	OMIM:618435
HP:0001373	Joint dislocation	5832	ALDH18A1	OMIM:219150
HP:0001373	Joint dislocation	5832	ALDH18A1	ORPHA:90348
HP:0001373	Joint dislocation	5832	ALDH18A1	OMIM:616603
HP:0001373	Joint dislocation	7030	TFE3	OMIM:301066
HP:0001373	Joint dislocation	51651	PTRH2	OMIM:616263
HP:0001373	Joint dislocation	2006	ELN	ORPHA:90348
HP:0001373	Joint dislocation	10516	FBLN5	ORPHA:90348
HP:0001373	Joint dislocation	10516	FBLN5	ORPHA:90349
HP:0001373	Joint dislocation	4052	LTBP1	ORPHA:90349
HP:0001373	Joint dislocation	4052	LTBP1	OMIM:619451
HP:0001373	Joint dislocation	30008	EFEMP2	ORPHA:90349
HP:0001373	Joint dislocation	55681	SCYL2	ORPHA:1143
HP:0001373	Joint dislocation	84570	COL25A1	ORPHA:1143
HP:0001373	Joint dislocation	57222	ERGIC1	ORPHA:1143
HP:0001373	Joint dislocation	7476	WNT7A	OMIM:276820
HP:0001373	Joint dislocation	9939	RBM8A	ORPHA:3320
HP:0001373	Joint dislocation	9939	RBM8A	OMIM:274000
HP:0001373	Joint dislocation	9775	EIF4A3	OMIM:268305
HP:0001373	Joint dislocation	81603	TRIM8	OMIM:619428
HP:0001373	Joint dislocation	2737	GLI3	ORPHA:672
HP:0001373	Joint dislocation	2737	GLI3	OMIM:146510
HP:0001373	Joint dislocation	2737	GLI3	ORPHA:93322
HP:0001373	Joint dislocation	22827	PUF60	ORPHA:508498
HP:0001373	Joint dislocation	22827	PUF60	OMIM:615583
HP:0001373	Joint dislocation	55906	ZC4H2	OMIM:301041
HP:0001373	Joint dislocation	55906	ZC4H2	OMIM:314580
HP:0001373	Joint dislocation	9759	HDAC4	OMIM:619797
HP:0001373	Joint dislocation	56896	DPYSL5	OMIM:619435
HP:0001373	Joint dislocation	579	NKX3-2	OMIM:613330
HP:0001373	Joint dislocation	253738	EBF3	ORPHA:96148
HP:0001373	Joint dislocation	90459	ERI1	OMIM:620663
HP:0001373	Joint dislocation	90459	ERI1	OMIM:620662
HP:0001373	Joint dislocation	79796	ALG9	OMIM:608776
HP:0001373	Joint dislocation	55784	MCTP2	ORPHA:1596
HP:0001373	Joint dislocation	5831	PYCR1	OMIM:614438
HP:0001373	Joint dislocation	5831	PYCR1	ORPHA:2078
HP:0001373	Joint dislocation	51010	EXOSC3	OMIM:614678
HP:0001373	Joint dislocation	6263	RYR3	OMIM:620310
HP:0001373	Joint dislocation	2067	ERCC1	OMIM:610758
HP:0001373	Joint dislocation	23499	MACF1	ORPHA:572013
HP:0001373	Joint dislocation	387119	CEP85L	ORPHA:572013
HP:0001373	Joint dislocation	64135	IFIH1	OMIM:182250
HP:0001373	Joint dislocation	29925	GMPPB	ORPHA:370968
HP:0001373	Joint dislocation	79147	FKRP	ORPHA:370968
HP:0001373	Joint dislocation	29954	POMT2	ORPHA:370968
HP:0001373	Joint dislocation	29954	POMT2	OMIM:613156
HP:0001373	Joint dislocation	9215	LARGE1	ORPHA:370968
HP:0001373	Joint dislocation	10585	POMT1	ORPHA:370968
HP:0001373	Joint dislocation	2530	FUT8	OMIM:618005
HP:0001373	Joint dislocation	29920	PYCR2	ORPHA:481152
HP:0001373	Joint dislocation	6678	SPARC	OMIM:616507
HP:0001373	Joint dislocation	25778	DSTYK	ORPHA:101003
HP:0001373	Joint dislocation	26175	LYSET	OMIM:619345
HP:0001373	Joint dislocation	9451	EIF2AK3	OMIM:226980
HP:0001373	Joint dislocation	545	ATR	OMIM:210600
HP:0001373	Joint dislocation	64374	SIL1	ORPHA:559
HP:0001373	Joint dislocation	55644	OSGEP	OMIM:617729
HP:0001373	Joint dislocation	2313	FLI1	ORPHA:2308
HP:0001373	Joint dislocation	538	ATP7A	ORPHA:198
HP:0001373	Joint dislocation	57003	CCDC47	OMIM:618268
HP:0001373	Joint dislocation	1861	TOR1A	OMIM:618947
HP:0001373	Joint dislocation	23443	SLC35A3	OMIM:615553
HP:0001373	Joint dislocation	23443	SLC35A3	ORPHA:370943
HP:0001373	Joint dislocation	6608	SMO	OMIM:241800
HP:0001373	Joint dislocation	4796	TONSL	ORPHA:93357
HP:0001373	Joint dislocation	207	AKT1	ORPHA:744
HP:0001373	Joint dislocation	4000	LMNA	ORPHA:740
HP:0001373	Joint dislocation	10269	ZMPSTE24	ORPHA:740
HP:0001373	Joint dislocation	51360	MBTPS2	OMIM:308205
HP:0001373	Joint dislocation	8239	USP9X	OMIM:300968
HP:0001373	Joint dislocation	113246	C12orf57	OMIM:218340
HP:0001373	Joint dislocation	92344	GORAB	ORPHA:2078
HP:0001373	Joint dislocation	10584	COLEC10	ORPHA:293843
HP:0001373	Joint dislocation	5648	MASP1	ORPHA:293843
HP:0001373	Joint dislocation	23299	BICD2	OMIM:618291
HP:0001373	Joint dislocation	6913	TBX15	OMIM:260660
HP:0001373	Joint dislocation	523	ATP6V1A	OMIM:617403
HP:0001373	Joint dislocation	3207	HOXA11	OMIM:605432
HP:0001373	Joint dislocation	50515	CHST11	OMIM:618167
HP:0001373	Joint dislocation	2033	EP300	OMIM:180849
HP:0001373	Joint dislocation	2033	EP300	ORPHA:353284
HP:0001373	Joint dislocation	1387	CREBBP	OMIM:180849
HP:0001373	Joint dislocation	1387	CREBBP	ORPHA:353277
HP:0001373	Joint dislocation	1387	CREBBP	ORPHA:353281
HP:0001373	Joint dislocation	23522	KAT6B	OMIM:606170
HP:0001373	Joint dislocation	23522	KAT6B	OMIM:603736
HP:0001373	Joint dislocation	7528	YY1	OMIM:617557
HP:0001373	Joint dislocation	4010	LMX1B	ORPHA:2614
HP:0001373	Joint dislocation	4010	LMX1B	OMIM:161200
HP:0001373	Joint dislocation	4010	LMX1B	ORPHA:495818
HP:0001373	Joint dislocation	5290	PIK3CA	ORPHA:140944
HP:0001373	Joint dislocation	91461	PKDCC	OMIM:618821
HP:0001373	Joint dislocation	6804	STX1A	ORPHA:904
HP:0001373	Joint dislocation	7461	CLIP2	ORPHA:904
HP:0001373	Joint dislocation	84277	DNAJC30	ORPHA:904
HP:0001373	Joint dislocation	8468	FKBP6	ORPHA:904
HP:0001373	Joint dislocation	5982	RFC2	ORPHA:904
HP:0001373	Joint dislocation	2969	GTF2I	ORPHA:904
HP:0001373	Joint dislocation	3984	LIMK1	ORPHA:904
HP:0001373	Joint dislocation	9569	GTF2IRD1	ORPHA:904
HP:0001373	Joint dislocation	155382	VPS37D	ORPHA:904
HP:0001373	Joint dislocation	155368	METTL27	ORPHA:904
HP:0001373	Joint dislocation	114049	BUD23	ORPHA:904
HP:0001373	Joint dislocation	7458	EIF4H	ORPHA:904
HP:0001373	Joint dislocation	84163	GTF2IRD2	ORPHA:904
HP:0001373	Joint dislocation	26608	TBL2	ORPHA:904
HP:0001373	Joint dislocation	653361	NCF1	ORPHA:904
HP:0001373	Joint dislocation	135886	TMEM270	ORPHA:904
HP:0001373	Joint dislocation	9031	BAZ1B	ORPHA:904
HP:0001373	Joint dislocation	9496	TBX4	OMIM:147891
HP:0001373	Joint dislocation	1312	COMT	ORPHA:567
HP:0001373	Joint dislocation	221037	JMJD1C	ORPHA:567
HP:0001373	Joint dislocation	2812	GP1BB	ORPHA:567
HP:0001373	Joint dislocation	6239	RREB1	ORPHA:567
HP:0001373	Joint dislocation	6899	TBX1	ORPHA:567
HP:0001373	Joint dislocation	6899	TBX1	OMIM:188400
HP:0001373	Joint dislocation	7290	HIRA	ORPHA:567
HP:0001373	Joint dislocation	9632	SEC24C	ORPHA:567
HP:0001373	Joint dislocation	7353	UFD1	ORPHA:567
HP:0001373	Joint dislocation	421	ARVCF	ORPHA:567
HP:0001373	Joint dislocation	65267	WNK3	OMIM:309610
HP:0001373	Joint dislocation	54928	BPNT2	OMIM:614078
HP:0001373	Joint dislocation	6812	STXBP1	ORPHA:495818
HP:0001373	Joint dislocation	4853	NOTCH2	ORPHA:955
HP:0001373	Joint dislocation	23476	BRD4	ORPHA:199
HP:0001373	Joint dislocation	9126	SMC3	ORPHA:199
HP:0001373	Joint dislocation	8243	SMC1A	ORPHA:199
HP:0001373	Joint dislocation	6878	TAF6	ORPHA:199
HP:0001373	Joint dislocation	25836	NIPBL	ORPHA:199
HP:0001373	Joint dislocation	55869	HDAC8	ORPHA:199
HP:0001373	Joint dislocation	1857	DVL3	ORPHA:3107
HP:0001373	Joint dislocation	7474	WNT5A	ORPHA:3107
HP:0001373	Joint dislocation	1855	DVL1	ORPHA:3107
HP:0001373	Joint dislocation	2535	FZD2	ORPHA:3107
HP:0001373	Joint dislocation	2535	FZD2	ORPHA:93328
HP:0001373	Joint dislocation	347734	SLC35B2	OMIM:620269
HP:0001373	Joint dislocation	9241	NOG	ORPHA:3250
HP:0001373	Joint dislocation	8200	GDF5	ORPHA:3250
HP:0001373	Joint dislocation	8200	GDF5	OMIM:201250
HP:0001373	Joint dislocation	8200	GDF5	ORPHA:968
HP:0001373	Joint dislocation	2201	FBN2	OMIM:121050
HP:0001373	Joint dislocation	9555	MACROH2A1	ORPHA:1275
HP:0001373	Joint dislocation	5307	PITX1	ORPHA:1275
HP:0001373	Joint dislocation	4038	LRP4	ORPHA:3258
HP:0001373	Joint dislocation	324	APC	ORPHA:3258
HP:0001373	Joint dislocation	3187	HNRNPH1	OMIM:620083
HP:0001373	Joint dislocation	4998	ORC1	OMIM:224690
HP:0001373	Joint dislocation	4998	ORC1	ORPHA:2554
HP:0001373	Joint dislocation	64359	NXN	ORPHA:1507
HP:0001373	Joint dislocation	4920	ROR2	ORPHA:1507
HP:0001373	Joint dislocation	81620	CDT1	ORPHA:2554
HP:0001373	Joint dislocation	5000	ORC4	ORPHA:2554
HP:0001373	Joint dislocation	23594	ORC6	ORPHA:2554
HP:0001373	Joint dislocation	8318	CDC45	ORPHA:2554
HP:0001373	Joint dislocation	990	CDC6	ORPHA:2554
HP:0001373	Joint dislocation	990	CDC6	OMIM:613805
HP:0001373	Joint dislocation	51053	GMNN	ORPHA:2554
HP:0001373	Joint dislocation	3339	HSPG2	ORPHA:800
HP:0001373	Joint dislocation	64093	SMOC1	ORPHA:1106
HP:0001373	Joint dislocation	6910	TBX5	OMIM:142900
HP:0001373	Joint dislocation	6473	SHOX	ORPHA:240
HP:0001373	Joint dislocation	10082	GPC6	ORPHA:93329
HP:0001373	Joint dislocation	2200	FBN1	ORPHA:2462
HP:0001373	Joint dislocation	6497	SKI	ORPHA:2462
HP:0001373	Joint dislocation	2316	FLNA	ORPHA:90650
HP:0001373	Joint dislocation	2316	FLNA	ORPHA:90652
HP:0001373	Joint dislocation	1182	CLCN3	OMIM:619512
HP:0001373	Joint dislocation	6885	MAP3K7	OMIM:617137
HP:0001373	Joint dislocation	6885	MAP3K7	ORPHA:1826
HP:0001373	Joint dislocation	10847	SRCAP	OMIM:136140
HP:0001373	Joint dislocation	10847	SRCAP	ORPHA:2044
HP:0001373	Joint dislocation	2137	EXTL3	OMIM:617425
HP:0001373	Joint dislocation	57492	ARID1B	OMIM:135900
HP:0001373	Joint dislocation	3897	L1CAM	OMIM:304100
HP:0001373	Joint dislocation	91252	SLC39A13	OMIM:612350
HP:0001373	Joint dislocation	649	BMP1	OMIM:614856
HP:0001373	Joint dislocation	29980	DONSON	OMIM:617604
HP:0001373	Joint dislocation	375	ARF1	ORPHA:98892
HP:0001373	Joint dislocation	4131	MAP1B	ORPHA:98892
HP:0001373	Joint dislocation	23327	NEDD4L	ORPHA:98892
HP:0001373	Joint dislocation	160418	TMTC3	ORPHA:98892
HP:0001373	Joint dislocation	10564	ARFGEF2	ORPHA:98892
HP:0001373	Joint dislocation	55780	ERMARD	ORPHA:98892
HP:0001373	Joint dislocation	55768	NGLY1	ORPHA:404454
HP:0001373	Joint dislocation	57167	SALL4	OMIM:607323
HP:0001373	Joint dislocation	6261	RYR1	ORPHA:178145
HP:0001373	Joint dislocation	79989	IFT56	OMIM:619534
HP:0001373	Joint dislocation	84068	SLC10A7	OMIM:618363
HP:0001373	Joint dislocation	10586	MAB21L2	OMIM:615877
HP:0001373	Joint dislocation	91179	SCARF2	OMIM:600920
HP:0001373	Joint dislocation	63895	PIEZO2	OMIM:108145
HP:0001373	Joint dislocation	5567	PRKACB	OMIM:619143
HP:0001373	Joint dislocation	126792	B3GALT6	ORPHA:536467
HP:0001373	Joint dislocation	3835	KIF22	OMIM:603546
HP:0001373	Joint dislocation	9935	MAFB	OMIM:166300
HP:0001373	Joint dislocation	387733	IFITM5	OMIM:610967
HP:0001373	Joint dislocation	23345	SYNE1	ORPHA:319332
HP:0001373	Joint dislocation	1290	COL5A2	ORPHA:287
HP:0001373	Joint dislocation	2273	FHL1	OMIM:300280
HP:0001373	Joint dislocation	9894	TELO2	ORPHA:488642
HP:0001373	Joint dislocation	57477	SHROOM4	ORPHA:85288
HP:0001373	Joint dislocation	2192	FBLN1	ORPHA:404451
HP:0001373	Joint dislocation	8218	CLTCL1	ORPHA:453510
HP:0001373	Joint dislocation	26229	B3GAT3	OMIM:245600
HP:0001373	Joint dislocation	7058	THBS2	OMIM:620865
HP:0001373	Joint dislocation	2783	GNB2	OMIM:619503
HP:0001373	Joint dislocation	100151683	RNU4ATAC	OMIM:226960
HP:0001373	Joint dislocation	23233	EXOC6B	OMIM:618395
HP:0001373	Joint dislocation	64412	GZF1	OMIM:617662
HP:0001373	Joint dislocation	7319	UBE2A	ORPHA:163956
HP:0001373	Joint dislocation	29940	DSE	ORPHA:2953
HP:0009177	Proximal/middle symphalangism of 5th finger	9241	NOG	OMIM:186500
HP:0009177	Proximal/middle symphalangism of 5th finger	9241	NOG	OMIM:184460
HP:0009177	Proximal/middle symphalangism of 5th finger	4920	ROR2	OMIM:268310
HP:0009177	Proximal/middle symphalangism of 5th finger	8200	GDF5	OMIM:615298
HP:0009177	Proximal/middle symphalangism of 5th finger	727857	BHLHA9	OMIM:609432
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	2263	FGFR2	OMIM:149730
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	3549	IHH	OMIM:112500
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	3549	IHH	OMIM:607778
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	90459	ERI1	OMIM:620662
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	57167	SALL4	ORPHA:959
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	2316	FLNA	ORPHA:1826
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	6885	MAP3K7	ORPHA:1826
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	5293	PIK3CD	ORPHA:221139
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	90417	KNSTRN	ORPHA:221139
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	2778	GNAS	ORPHA:79445
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	5727	PTCH1	OMIM:109400
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	23019	CNOT1	ORPHA:556955
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	7204	TRIO	ORPHA:476126
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	3756	KCNH1	ORPHA:420561
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	8200	GDF5	ORPHA:93384
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	658	BMPR1B	ORPHA:93384
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	2535	FZD2	OMIM:164745
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	2535	FZD2	ORPHA:93328
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	23476	BRD4	ORPHA:199
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	23476	BRD4	OMIM:620568
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	9126	SMC3	ORPHA:199
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	8243	SMC1A	ORPHA:199
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	6878	TAF6	ORPHA:199
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	25836	NIPBL	ORPHA:199
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	55869	HDAC8	ORPHA:199
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	5885	RAD21	ORPHA:199
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	90	ACVR1	OMIM:135100
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	57020	VPS35L	OMIM:619135
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	10262	SF3B4	OMIM:154400
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	9241	NOG	OMIM:186570
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	9241	NOG	OMIM:611377
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	6091	ROBO1	OMIM:620305
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	3209	HOXA13	OMIM:140000
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	3209	HOXA13	ORPHA:2438
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	10847	SRCAP	OMIM:136140
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	55215	FANCI	OMIM:609053
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	6662	SOX9	OMIM:114290
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	5116	PCNT	OMIM:210720
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	26040	SETBP1	OMIM:269150
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	26040	SETBP1	ORPHA:798
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	388015	RTL1	ORPHA:96334
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	8788	DLK1	ORPHA:96334
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	55384	MEG3	ORPHA:96334
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	3911	LAMA5	OMIM:620076
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	124583	CANT1	OMIM:251450
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	6910	TBX5	OMIM:142900
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	7516	XRCC2	OMIM:617247
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	2177	FANCD2	OMIM:227646
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	9896	FIG4	ORPHA:3472
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	55697	VAC14	ORPHA:3472
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	64327	LMBR1	ORPHA:93321
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	6469	SHH	ORPHA:93321
HP:0031970	Abnormal blood urea nitrogen concentration	8518	ELP1	OMIM:223900
HP:0031970	Abnormal blood urea nitrogen concentration	7369	UMOD	OMIM:162000
HP:0031970	Abnormal blood urea nitrogen concentration	1621	DBH	ORPHA:230
HP:0031970	Abnormal blood urea nitrogen concentration	1621	DBH	OMIM:223360
HP:0031970	Abnormal blood urea nitrogen concentration	51081	MRPS7	OMIM:617872
HP:0031970	Abnormal blood urea nitrogen concentration	29927	SEC61A1	OMIM:617056
HP:0031970	Abnormal blood urea nitrogen concentration	4179	CD46	OMIM:612922
HP:0031970	Abnormal blood urea nitrogen concentration	629	CFB	OMIM:612924
HP:0031970	Abnormal blood urea nitrogen concentration	56606	SLC2A9	ORPHA:94088
HP:0031970	Abnormal blood urea nitrogen concentration	116085	SLC22A12	ORPHA:94088
HP:0031970	Abnormal blood urea nitrogen concentration	3426	CFI	OMIM:612923
HP:0031970	Abnormal blood urea nitrogen concentration	7056	THBD	OMIM:612926
HP:0031970	Abnormal blood urea nitrogen concentration	718	C3	OMIM:612925
HP:0031970	Abnormal blood urea nitrogen concentration	1161	ERCC8	ORPHA:90321
HP:0031970	Abnormal blood urea nitrogen concentration	2072	ERCC4	ORPHA:90321
HP:0031970	Abnormal blood urea nitrogen concentration	2074	ERCC6	ORPHA:90321
HP:0031970	Abnormal blood urea nitrogen concentration	506	ATP5F1B	OMIM:620085
HP:0031970	Abnormal blood urea nitrogen concentration	5277	PIGA	ORPHA:447
HP:0031970	Abnormal blood urea nitrogen concentration	11093	ADAMTS13	OMIM:274150
HP:0031970	Abnormal blood urea nitrogen concentration	54938	SARS2	OMIM:613845
HP:0031970	Abnormal blood urea nitrogen concentration	10878	CFHR3	OMIM:235400
HP:0031970	Abnormal blood urea nitrogen concentration	3075	CFH	OMIM:235400
HP:0031970	Abnormal blood urea nitrogen concentration	3078	CFHR1	OMIM:235400
HP:0031970	Abnormal blood urea nitrogen concentration	22909	FAN1	OMIM:614817
HP:0031970	Abnormal blood urea nitrogen concentration	1497	CTNS	OMIM:219800
HP:0031970	Abnormal blood urea nitrogen concentration	554	AVPR2	OMIM:300539
HP:0031971	Subaortic ventricular septal bulge	70	ACTC1	OMIM:612098
HP:0031972	Presyncope	79188	TMEM43	OMIM:604400
HP:0031972	Presyncope	1000	CDH2	OMIM:618920
HP:0031972	Presyncope	5336	PLCG2	OMIM:614468
HP:0031972	Presyncope	3759	KCNJ2	OMIM:609622
HP:0031972	Presyncope	3752	KCND3	OMIM:616399
HP:0031979	Abnormal urine carbohydrate level	55343	SLC35C1	OMIM:266265
HP:0031979	Abnormal urine carbohydrate level	4125	MAN2B1	ORPHA:309282
HP:0031979	Abnormal urine carbohydrate level	4125	MAN2B1	ORPHA:309288
HP:0031979	Abnormal urine carbohydrate level	2548	GAA	ORPHA:308552
HP:0031979	Abnormal urine carbohydrate level	57231	SNX14	OMIM:616354
HP:0031979	Abnormal urine carbohydrate level	57231	SNX14	ORPHA:397709
HP:0031979	Abnormal urine carbohydrate level	2517	FUCA1	OMIM:230000
HP:0031979	Abnormal urine carbohydrate level	4952	OCRL	ORPHA:534
HP:0031979	Abnormal urine carbohydrate level	79158	GNPTAB	ORPHA:423461
HP:0031979	Abnormal urine carbohydrate level	2584	GALK1	OMIM:230200
HP:0031979	Abnormal urine carbohydrate level	2592	GALT	OMIM:230400
HP:0031979	Abnormal urine carbohydrate level	9652	SKIC3	OMIM:222470
HP:0031979	Abnormal urine carbohydrate level	93986	FOXP2	ORPHA:251061
HP:0031979	Abnormal urine carbohydrate level	2582	GALE	OMIM:230350
HP:0031979	Abnormal urine carbohydrate level	4758	NEU1	ORPHA:812
HP:0031979	Abnormal urine carbohydrate level	4758	NEU1	OMIM:256550
HP:0031979	Abnormal urine carbohydrate level	4126	MANBA	OMIM:248510
HP:0031979	Abnormal urine carbohydrate level	23729	SHPK	OMIM:617213
HP:0031979	Abnormal urine carbohydrate level	51181	DCXR	ORPHA:2843
HP:0031979	Abnormal urine carbohydrate level	3795	KHK	ORPHA:2056
HP:0031979	Abnormal urine carbohydrate level	10165	SLC25A13	ORPHA:247598
HP:0031979	Abnormal urine carbohydrate level	2203	FBP1	OMIM:229700
HP:0031979	Abnormal urine carbohydrate level	2203	FBP1	ORPHA:348
HP:0031979	Abnormal urine carbohydrate level	2710	GK	OMIM:307030
HP:0031979	Abnormal urine carbohydrate level	22934	RPIA	OMIM:608611
HP:0031979	Abnormal urine carbohydrate level	3553	IL1B	OMIM:613659
HP:0031979	Abnormal urine carbohydrate level	2064	ERBB2	OMIM:613659
HP:0031979	Abnormal urine carbohydrate level	3557	IL1RN	OMIM:613659
HP:0031979	Abnormal urine carbohydrate level	324	APC	OMIM:613659
HP:0031979	Abnormal urine carbohydrate level	843	CASP10	OMIM:613659
HP:0031979	Abnormal urine carbohydrate level	3659	IRF1	OMIM:613659
HP:0031979	Abnormal urine carbohydrate level	2263	FGFR2	OMIM:613659
HP:0031979	Abnormal urine carbohydrate level	3845	KRAS	OMIM:613659
HP:0031979	Abnormal urine carbohydrate level	3845	KRAS	OMIM:260350
HP:0031979	Abnormal urine carbohydrate level	5290	PIK3CA	OMIM:613659
HP:0031979	Abnormal urine carbohydrate level	1316	KLF6	OMIM:613659
HP:0031979	Abnormal urine carbohydrate level	4595	MUTYH	OMIM:613659
HP:0031979	Abnormal urine carbohydrate level	3875	KRT18	OMIM:215600
HP:0031979	Abnormal urine carbohydrate level	91	ACVR1B	OMIM:260350
HP:0031979	Abnormal urine carbohydrate level	4089	SMAD4	OMIM:260350
HP:0031979	Abnormal urine carbohydrate level	6794	STK11	OMIM:260350
HP:0031979	Abnormal urine carbohydrate level	7157	TP53	OMIM:260350
HP:0031979	Abnormal urine carbohydrate level	7086	TKT	ORPHA:488618
HP:0031979	Abnormal urine carbohydrate level	2720	GLB1	ORPHA:79255
HP:0031979	Abnormal urine carbohydrate level	3074	HEXB	OMIM:268800
HP:0031979	Abnormal urine carbohydrate level	5193	PEX12	OMIM:266510
HP:0003084	Recurrent long bone fractures	6904	TBCD	ORPHA:496641
HP:0003084	Recurrent long bone fractures	8878	SQSTM1	OMIM:167250
HP:0003084	Recurrent long bone fractures	8792	TNFRSF11A	OMIM:602080
HP:0003084	Recurrent long bone fractures	4507	MTAP	OMIM:112250
HP:0003084	Recurrent long bone fractures	1186	CLCN7	OMIM:166600
HP:0001199	Triphalangeal thumb	57167	SALL4	ORPHA:233
HP:0001199	Triphalangeal thumb	57167	SALL4	OMIM:147750
HP:0001199	Triphalangeal thumb	57167	SALL4	OMIM:607323
HP:0001199	Triphalangeal thumb	57167	SALL4	ORPHA:959
HP:0001199	Triphalangeal thumb	57167	SALL4	ORPHA:2307
HP:0001199	Triphalangeal thumb	9935	MAFB	ORPHA:233
HP:0001199	Triphalangeal thumb	1123	CHN1	ORPHA:233
HP:0001199	Triphalangeal thumb	7291	TWIST1	ORPHA:794
HP:0001199	Triphalangeal thumb	2263	FGFR2	ORPHA:794
HP:0001199	Triphalangeal thumb	2263	FGFR2	OMIM:149730
HP:0001199	Triphalangeal thumb	2261	FGFR3	ORPHA:794
HP:0001199	Triphalangeal thumb	9488	PIGB	OMIM:618580
HP:0001199	Triphalangeal thumb	10262	SF3B4	OMIM:154400
HP:0001199	Triphalangeal thumb	10262	SF3B4	ORPHA:245
HP:0001199	Triphalangeal thumb	6910	TBX5	ORPHA:392
HP:0001199	Triphalangeal thumb	6910	TBX5	OMIM:142900
HP:0001199	Triphalangeal thumb	6138	RPL15	OMIM:615550
HP:0001199	Triphalangeal thumb	6138	RPL15	ORPHA:124
HP:0001199	Triphalangeal thumb	6135	RPL11	OMIM:612562
HP:0001199	Triphalangeal thumb	6135	RPL11	ORPHA:124
HP:0001199	Triphalangeal thumb	6125	RPL5	OMIM:612561
HP:0001199	Triphalangeal thumb	6125	RPL5	ORPHA:124
HP:0001199	Triphalangeal thumb	64327	LMBR1	ORPHA:2378
HP:0001199	Triphalangeal thumb	64327	LMBR1	OMIM:190605
HP:0001199	Triphalangeal thumb	64327	LMBR1	OMIM:186200
HP:0001199	Triphalangeal thumb	64327	LMBR1	OMIM:135750
HP:0001199	Triphalangeal thumb	64327	LMBR1	ORPHA:93405
HP:0001199	Triphalangeal thumb	526	ATP6V1B2	ORPHA:79500
HP:0001199	Triphalangeal thumb	526	ATP6V1B2	OMIM:124480
HP:0001199	Triphalangeal thumb	526	ATP6V1B2	ORPHA:79499
HP:0001199	Triphalangeal thumb	57465	TBC1D24	ORPHA:79500
HP:0001199	Triphalangeal thumb	57465	TBC1D24	OMIM:220500
HP:0001199	Triphalangeal thumb	2737	GLI3	ORPHA:36
HP:0001199	Triphalangeal thumb	2737	GLI3	OMIM:174200
HP:0001199	Triphalangeal thumb	374654	KIF7	ORPHA:36
HP:0001199	Triphalangeal thumb	6299	SALL1	OMIM:107480
HP:0001199	Triphalangeal thumb	6299	SALL1	ORPHA:857
HP:0001199	Triphalangeal thumb	51339	DACT1	ORPHA:857
HP:0001199	Triphalangeal thumb	1749	DLX5	OMIM:183600
HP:0001199	Triphalangeal thumb	4488	MSX2	OMIM:604757
HP:0001199	Triphalangeal thumb	672	BRCA1	ORPHA:84
HP:0001199	Triphalangeal thumb	10459	MAD2L2	ORPHA:84
HP:0001199	Triphalangeal thumb	7516	XRCC2	ORPHA:84
HP:0001199	Triphalangeal thumb	29089	UBE2T	ORPHA:84
HP:0001199	Triphalangeal thumb	675	BRCA2	ORPHA:84
HP:0001199	Triphalangeal thumb	55120	FANCL	ORPHA:84
HP:0001199	Triphalangeal thumb	2177	FANCD2	ORPHA:84
HP:0001199	Triphalangeal thumb	2175	FANCA	ORPHA:84
HP:0001199	Triphalangeal thumb	2187	FANCB	ORPHA:84
HP:0001199	Triphalangeal thumb	2176	FANCC	ORPHA:84
HP:0001199	Triphalangeal thumb	2178	FANCE	ORPHA:84
HP:0001199	Triphalangeal thumb	2188	FANCF	ORPHA:84
HP:0001199	Triphalangeal thumb	2189	FANCG	ORPHA:84
HP:0001199	Triphalangeal thumb	5888	RAD51	ORPHA:84
HP:0001199	Triphalangeal thumb	5889	RAD51C	ORPHA:84
HP:0001199	Triphalangeal thumb	55159	RFWD3	ORPHA:84
HP:0001199	Triphalangeal thumb	83990	BRIP1	ORPHA:84
HP:0001199	Triphalangeal thumb	57697	FANCM	ORPHA:84
HP:0001199	Triphalangeal thumb	79728	PALB2	ORPHA:84
HP:0001199	Triphalangeal thumb	84464	SLX4	ORPHA:84
HP:0001199	Triphalangeal thumb	2072	ERCC4	ORPHA:84
HP:0001199	Triphalangeal thumb	55215	FANCI	ORPHA:84
HP:0001199	Triphalangeal thumb	8626	TP63	OMIM:605289
HP:0001199	Triphalangeal thumb	6223	RPS19	OMIM:105650
HP:0001199	Triphalangeal thumb	6223	RPS19	ORPHA:124
HP:0001199	Triphalangeal thumb	6224	RPS20	ORPHA:124
HP:0001199	Triphalangeal thumb	6165	RPL35A	ORPHA:124
HP:0001199	Triphalangeal thumb	6132	RPL8	ORPHA:124
HP:0001199	Triphalangeal thumb	6232	RPS27	ORPHA:124
HP:0001199	Triphalangeal thumb	55027	HEATR3	ORPHA:124
HP:0001199	Triphalangeal thumb	6160	RPL31	ORPHA:124
HP:0001199	Triphalangeal thumb	6201	RPS7	ORPHA:124
HP:0001199	Triphalangeal thumb	6155	RPL27	ORPHA:124
HP:0001199	Triphalangeal thumb	6234	RPS28	ORPHA:124
HP:0001199	Triphalangeal thumb	6229	RPS24	ORPHA:124
HP:0001199	Triphalangeal thumb	6204	RPS10	ORPHA:124
HP:0001199	Triphalangeal thumb	2623	GATA1	ORPHA:124
HP:0001199	Triphalangeal thumb	6133	RPL9	ORPHA:124
HP:0001199	Triphalangeal thumb	6231	RPS26	ORPHA:124
HP:0001199	Triphalangeal thumb	11224	RPL35	ORPHA:124
HP:0001199	Triphalangeal thumb	6218	RPS17	ORPHA:124
HP:0001199	Triphalangeal thumb	6154	RPL26	ORPHA:124
HP:0001199	Triphalangeal thumb	6210	RPS15A	ORPHA:124
HP:0001199	Triphalangeal thumb	90121	TSR2	ORPHA:124
HP:0001199	Triphalangeal thumb	6141	RPL18	ORPHA:124
HP:0001199	Triphalangeal thumb	6235	RPS29	ORPHA:124
HP:0001199	Triphalangeal thumb	51816	ADA2	ORPHA:124
HP:0001199	Triphalangeal thumb	6469	SHH	ORPHA:93405
HP:0001199	Triphalangeal thumb	3782	KCNN3	OMIM:618658
HP:0001199	Triphalangeal thumb	5281	PIGF	OMIM:619356
HP:0009276	Contracture of the proximal interphalangeal joint of the 4th finger	10765	KDM5B	OMIM:618109
HP:0009276	Contracture of the proximal interphalangeal joint of the 4th finger	11011	TLK2	OMIM:618050
HP:0009276	Contracture of the proximal interphalangeal joint of the 4th finger	6909	TBX2	OMIM:618223
HP:0009276	Contracture of the proximal interphalangeal joint of the 4th finger	90459	ERI1	OMIM:620662
HP:0009276	Contracture of the proximal interphalangeal joint of the 4th finger	80816	ASXL3	OMIM:615485
HP:0003022	Hypoplasia of the ulna	1280	COL2A1	OMIM:271700
HP:0003022	Hypoplasia of the ulna	1280	COL2A1	ORPHA:1856
HP:0003022	Hypoplasia of the ulna	5573	PRKAR1A	ORPHA:950
HP:0003022	Hypoplasia of the ulna	5144	PDE4D	ORPHA:950
HP:0003022	Hypoplasia of the ulna	8200	GDF5	OMIM:200700
HP:0003022	Hypoplasia of the ulna	8200	GDF5	ORPHA:93388
HP:0003022	Hypoplasia of the ulna	8200	GDF5	OMIM:201250
HP:0003022	Hypoplasia of the ulna	79659	DYNC2H1	OMIM:613091
HP:0003022	Hypoplasia of the ulna	51604	PIGT	OMIM:615398
HP:0003022	Hypoplasia of the ulna	57167	SALL4	OMIM:147750
HP:0003022	Hypoplasia of the ulna	57167	SALL4	OMIM:607323
HP:0003022	Hypoplasia of the ulna	57167	SALL4	ORPHA:959
HP:0003022	Hypoplasia of the ulna	2263	FGFR2	OMIM:149730
HP:0003022	Hypoplasia of the ulna	9820	CUL7	ORPHA:2616
HP:0003022	Hypoplasia of the ulna	23363	OBSL1	ORPHA:2616
HP:0003022	Hypoplasia of the ulna	83987	CCDC8	ORPHA:2616
HP:0003022	Hypoplasia of the ulna	6154	RPL26	OMIM:614900
HP:0003022	Hypoplasia of the ulna	6473	SHOX	OMIM:127300
HP:0003022	Hypoplasia of the ulna	6473	SHOX	OMIM:249700
HP:0003022	Hypoplasia of the ulna	6473	SHOX	ORPHA:240
HP:0003022	Hypoplasia of the ulna	145258	GSC	OMIM:602471
HP:0003022	Hypoplasia of the ulna	23233	EXOC6B	OMIM:618395
HP:0003022	Hypoplasia of the ulna	1723	DHODH	OMIM:263750
HP:0003022	Hypoplasia of the ulna	1723	DHODH	ORPHA:246
HP:0003022	Hypoplasia of the ulna	182	JAG1	OMIM:118450
HP:0003022	Hypoplasia of the ulna	4038	LRP4	ORPHA:3258
HP:0003022	Hypoplasia of the ulna	4038	LRP4	OMIM:212780
HP:0003022	Hypoplasia of the ulna	324	APC	ORPHA:3258
HP:0003022	Hypoplasia of the ulna	3549	IHH	ORPHA:93388
HP:0003022	Hypoplasia of the ulna	3549	IHH	OMIM:607778
HP:0003022	Hypoplasia of the ulna	658	BMPR1B	ORPHA:93388
HP:0003022	Hypoplasia of the ulna	658	BMPR1B	OMIM:609441
HP:0003022	Hypoplasia of the ulna	57020	VPS35L	OMIM:619135
HP:0003022	Hypoplasia of the ulna	9469	CHST3	OMIM:143095
HP:0003022	Hypoplasia of the ulna	672	BRCA1	ORPHA:84
HP:0003022	Hypoplasia of the ulna	10459	MAD2L2	ORPHA:84
HP:0003022	Hypoplasia of the ulna	7516	XRCC2	ORPHA:84
HP:0003022	Hypoplasia of the ulna	29089	UBE2T	ORPHA:84
HP:0003022	Hypoplasia of the ulna	675	BRCA2	ORPHA:84
HP:0003022	Hypoplasia of the ulna	55120	FANCL	ORPHA:84
HP:0003022	Hypoplasia of the ulna	2177	FANCD2	ORPHA:84
HP:0003022	Hypoplasia of the ulna	2175	FANCA	ORPHA:84
HP:0003022	Hypoplasia of the ulna	2187	FANCB	ORPHA:84
HP:0003022	Hypoplasia of the ulna	2176	FANCC	ORPHA:84
HP:0003022	Hypoplasia of the ulna	2178	FANCE	ORPHA:84
HP:0003022	Hypoplasia of the ulna	2188	FANCF	ORPHA:84
HP:0003022	Hypoplasia of the ulna	2189	FANCG	ORPHA:84
HP:0003022	Hypoplasia of the ulna	5888	RAD51	ORPHA:84
HP:0003022	Hypoplasia of the ulna	5889	RAD51C	ORPHA:84
HP:0003022	Hypoplasia of the ulna	55159	RFWD3	ORPHA:84
HP:0003022	Hypoplasia of the ulna	83990	BRIP1	ORPHA:84
HP:0003022	Hypoplasia of the ulna	57697	FANCM	ORPHA:84
HP:0003022	Hypoplasia of the ulna	79728	PALB2	ORPHA:84
HP:0003022	Hypoplasia of the ulna	84464	SLX4	ORPHA:84
HP:0003022	Hypoplasia of the ulna	2072	ERCC4	ORPHA:84
HP:0003022	Hypoplasia of the ulna	55215	FANCI	ORPHA:84
HP:0003022	Hypoplasia of the ulna	9939	RBM8A	OMIM:274000
HP:0003022	Hypoplasia of the ulna	9241	NOG	OMIM:186500
HP:0003022	Hypoplasia of the ulna	157570	ESCO2	OMIM:268300
HP:0003022	Hypoplasia of the ulna	6910	TBX5	OMIM:142900
HP:0003022	Hypoplasia of the ulna	9401	RECQL4	OMIM:218600
HP:0003022	Hypoplasia of the ulna	6926	TBX3	OMIM:181450
HP:0003022	Hypoplasia of the ulna	567	B2M	OMIM:241600
HP:0003022	Hypoplasia of the ulna	55636	CHD7	OMIM:214800
HP:0003022	Hypoplasia of the ulna	91179	SCARF2	OMIM:600920
HP:0003022	Hypoplasia of the ulna	4920	ROR2	OMIM:268310
HP:0005841	Calcific stippling of infantile cartilaginous skeleton	5191	PEX7	OMIM:215100
HP:0031980	Abnormal urine carboxylic acid level	79783	SUGCT	ORPHA:35706
HP:0031980	Abnormal urine carboxylic acid level	79783	SUGCT	OMIM:231690
HP:0031980	Abnormal urine carboxylic acid level	2639	GCDH	ORPHA:25
HP:0031980	Abnormal urine carboxylic acid level	2639	GCDH	OMIM:231670
HP:0031980	Abnormal urine carboxylic acid level	728294	D2HGDH	OMIM:600721
HP:0031980	Abnormal urine carboxylic acid level	3242	HPD	OMIM:276710
HP:0031980	Abnormal urine carboxylic acid level	3242	HPD	OMIM:140350
HP:0031980	Abnormal urine carboxylic acid level	3242	HPD	ORPHA:2118
HP:0031980	Abnormal urine carboxylic acid level	6898	TAT	OMIM:276600
HP:0031980	Abnormal urine carboxylic acid level	7019	TFAM	OMIM:617156
HP:0031980	Abnormal urine carboxylic acid level	3158	HMGCS2	OMIM:605911
HP:0031980	Abnormal urine carboxylic acid level	197322	ACSF3	ORPHA:289504
HP:0031980	Abnormal urine carboxylic acid level	34	ACADM	ORPHA:42
HP:0031980	Abnormal urine carboxylic acid level	51241	COX16	OMIM:619355
HP:0031980	Abnormal urine carboxylic acid level	55687	TRMU	OMIM:613070
HP:0031980	Abnormal urine carboxylic acid level	37	ACADVL	OMIM:201475
HP:0031980	Abnormal urine carboxylic acid level	3033	HADH	OMIM:231530
HP:0031980	Abnormal urine carboxylic acid level	3033	HADH	ORPHA:71212
HP:0031980	Abnormal urine carboxylic acid level	1374	CPT1A	OMIM:255120
HP:0031980	Abnormal urine carboxylic acid level	55065	SLC52A1	OMIM:615026
HP:0031980	Abnormal urine carboxylic acid level	788	SLC25A20	OMIM:212138
HP:0031980	Abnormal urine carboxylic acid level	788	SLC25A20	ORPHA:159
HP:0031980	Abnormal urine carboxylic acid level	54148	MRPL39	OMIM:620646
HP:0031980	Abnormal urine carboxylic acid level	28976	ACAD9	OMIM:611126
HP:0031980	Abnormal urine carboxylic acid level	28976	ACAD9	ORPHA:99901
HP:0031980	Abnormal urine carboxylic acid level	5195	PEX14	OMIM:614887
HP:0031980	Abnormal urine carboxylic acid level	1376	CPT2	ORPHA:228308
HP:0031980	Abnormal urine carboxylic acid level	27034	ACAD8	ORPHA:79159
HP:0031980	Abnormal urine carboxylic acid level	6584	SLC22A5	OMIM:212140
HP:0031980	Abnormal urine carboxylic acid level	435	ASL	ORPHA:23
HP:0031980	Abnormal urine carboxylic acid level	435	ASL	OMIM:207900
HP:0031980	Abnormal urine carboxylic acid level	9056	SLC7A7	OMIM:222700
HP:0031980	Abnormal urine carboxylic acid level	9056	SLC7A7	ORPHA:470
HP:0031980	Abnormal urine carboxylic acid level	5009	OTC	ORPHA:664
HP:0031980	Abnormal urine carboxylic acid level	5009	OTC	OMIM:311250
HP:0031980	Abnormal urine carboxylic acid level	7372	UMPS	ORPHA:30
HP:0031980	Abnormal urine carboxylic acid level	7372	UMPS	OMIM:258900
HP:0031980	Abnormal urine carboxylic acid level	790	CAD	OMIM:616457
HP:0031980	Abnormal urine carboxylic acid level	383	ARG1	OMIM:207800
HP:0031980	Abnormal urine carboxylic acid level	445	ASS1	OMIM:215700
HP:0031980	Abnormal urine carboxylic acid level	498	ATP5F1A	OMIM:620358
HP:0031980	Abnormal urine carboxylic acid level	10166	SLC25A15	ORPHA:415
HP:0031980	Abnormal urine carboxylic acid level	23474	ETHE1	ORPHA:51188
HP:0031980	Abnormal urine carboxylic acid level	23474	ETHE1	OMIM:602473
HP:0031980	Abnormal urine carboxylic acid level	3329	HSPD1	OMIM:612233
HP:0031980	Abnormal urine carboxylic acid level	35	ACADS	OMIM:201470
HP:0031980	Abnormal urine carboxylic acid level	35	ACADS	ORPHA:26792
HP:0031980	Abnormal urine carboxylic acid level	80207	OPA3	OMIM:258501
HP:0031980	Abnormal urine carboxylic acid level	131118	DNAJC19	OMIM:610198
HP:0031980	Abnormal urine carboxylic acid level	27429	HTRA2	OMIM:617248
HP:0031980	Abnormal urine carboxylic acid level	92609	TIMM50	OMIM:617698
HP:0031980	Abnormal urine carboxylic acid level	3155	HMGCL	ORPHA:20
HP:0031980	Abnormal urine carboxylic acid level	3155	HMGCL	OMIM:246450
HP:0031980	Abnormal urine carboxylic acid level	55768	NGLY1	OMIM:615273
HP:0031980	Abnormal urine carboxylic acid level	26235	FBXL4	OMIM:615471
HP:0031980	Abnormal urine carboxylic acid level	6389	SDHA	OMIM:619259
HP:0031980	Abnormal urine carboxylic acid level	4509	MT-ATP8	ORPHA:254913
HP:0031980	Abnormal urine carboxylic acid level	514	ATP5F1E	ORPHA:254913
HP:0031980	Abnormal urine carboxylic acid level	514	ATP5F1E	OMIM:614053
HP:0031980	Abnormal urine carboxylic acid level	513	ATP5F1D	ORPHA:254913
HP:0031980	Abnormal urine carboxylic acid level	513	ATP5F1D	OMIM:618120
HP:0031980	Abnormal urine carboxylic acid level	4508	MT-ATP6	ORPHA:254913
HP:0031980	Abnormal urine carboxylic acid level	84833	ATP5MK	ORPHA:254913
HP:0031980	Abnormal urine carboxylic acid level	91647	ATPAF2	ORPHA:254913
HP:0031980	Abnormal urine carboxylic acid level	91647	ATPAF2	OMIM:604273
HP:0031980	Abnormal urine carboxylic acid level	4567	MT-TL1	ORPHA:324525
HP:0031980	Abnormal urine carboxylic acid level	125988	MICOS13	OMIM:618329
HP:0031980	Abnormal urine carboxylic acid level	125988	MICOS13	ORPHA:67047
HP:0031980	Abnormal urine carboxylic acid level	81570	CLPB	OMIM:619835
HP:0031980	Abnormal urine carboxylic acid level	81570	CLPB	OMIM:619813
HP:0031980	Abnormal urine carboxylic acid level	81570	CLPB	ORPHA:445038
HP:0031980	Abnormal urine carboxylic acid level	81570	CLPB	OMIM:616271
HP:0031980	Abnormal urine carboxylic acid level	5428	POLG	OMIM:203700
HP:0031980	Abnormal urine carboxylic acid level	3954	LETM1	OMIM:620089
HP:0031980	Abnormal urine carboxylic acid level	549	AUH	OMIM:250950
HP:0031980	Abnormal urine carboxylic acid level	549	AUH	ORPHA:67046
HP:0031980	Abnormal urine carboxylic acid level	55750	AGK	OMIM:212350
HP:0031980	Abnormal urine carboxylic acid level	55210	ATAD3A	ORPHA:496790
HP:0031980	Abnormal urine carboxylic acid level	112812	FDX2	OMIM:251900
HP:0031980	Abnormal urine carboxylic acid level	54968	TMEM70	OMIM:614052
HP:0031980	Abnormal urine carboxylic acid level	54968	TMEM70	ORPHA:1194
HP:0031980	Abnormal urine carboxylic acid level	8802	SUCLG1	ORPHA:17
HP:0031980	Abnormal urine carboxylic acid level	6901	TAFAZZIN	OMIM:302060
HP:0031980	Abnormal urine carboxylic acid level	84947	SERAC1	OMIM:614739
HP:0031980	Abnormal urine carboxylic acid level	4724	NDUFS4	OMIM:252010
HP:0031980	Abnormal urine carboxylic acid level	23095	KIF1B	OMIM:256700
HP:0031980	Abnormal urine carboxylic acid level	6571	SLC18A2	OMIM:618049
HP:0031980	Abnormal urine carboxylic acid level	4613	MYCN	ORPHA:635
HP:0031980	Abnormal urine carboxylic acid level	238	ALK	ORPHA:635
HP:0031980	Abnormal urine carboxylic acid level	389421	LIN28B	ORPHA:635
HP:0031980	Abnormal urine carboxylic acid level	4004	LMO1	ORPHA:635
HP:0031980	Abnormal urine carboxylic acid level	57531	HACE1	ORPHA:635
HP:0031980	Abnormal urine carboxylic acid level	8929	PHOX2B	ORPHA:635
HP:0031980	Abnormal urine carboxylic acid level	5979	RET	OMIM:171400
HP:0031980	Abnormal urine carboxylic acid level	119559	SFXN4	OMIM:615578
HP:0031980	Abnormal urine carboxylic acid level	25974	MMACHC	ORPHA:79282
HP:0031980	Abnormal urine carboxylic acid level	25974	MMACHC	OMIM:277400
HP:0031980	Abnormal urine carboxylic acid level	3054	HCFC1	OMIM:309541
HP:0031980	Abnormal urine carboxylic acid level	23417	MLYCD	OMIM:248360
HP:0031980	Abnormal urine carboxylic acid level	6948	TCN2	OMIM:275350
HP:0031980	Abnormal urine carboxylic acid level	6948	TCN2	ORPHA:859
HP:0031980	Abnormal urine carboxylic acid level	55788	LMBRD1	ORPHA:79284
HP:0031980	Abnormal urine carboxylic acid level	55788	LMBRD1	OMIM:277380
HP:0031980	Abnormal urine carboxylic acid level	27249	MMADHC	OMIM:277410
HP:0031980	Abnormal urine carboxylic acid level	4594	MMUT	OMIM:251000
HP:0031980	Abnormal urine carboxylic acid level	84693	MCEE	OMIM:251120
HP:0031980	Abnormal urine carboxylic acid level	4552	MTRR	OMIM:236270
HP:0031980	Abnormal urine carboxylic acid level	8803	SUCLA2	OMIM:612073
HP:0031980	Abnormal urine carboxylic acid level	8803	SUCLA2	ORPHA:1933
HP:0031980	Abnormal urine carboxylic acid level	132001	TAMM41	OMIM:620139
HP:0031980	Abnormal urine carboxylic acid level	51293	CD320	OMIM:613646
HP:0031980	Abnormal urine carboxylic acid level	5826	ABCD4	OMIM:614857
HP:0031980	Abnormal urine carboxylic acid level	4548	MTR	OMIM:250940
HP:0031980	Abnormal urine carboxylic acid level	326625	MMAB	OMIM:251110
HP:0031980	Abnormal urine carboxylic acid level	5052	PRDX1	OMIM:277400
HP:0031980	Abnormal urine carboxylic acid level	5498	PPOX	OMIM:176200
HP:0031980	Abnormal urine carboxylic acid level	5498	PPOX	ORPHA:79473
HP:0031980	Abnormal urine carboxylic acid level	1371	CPOX	ORPHA:79273
HP:0031980	Abnormal urine carboxylic acid level	1371	CPOX	OMIM:121300
HP:0031980	Abnormal urine carboxylic acid level	1371	CPOX	OMIM:618892
HP:0031980	Abnormal urine carboxylic acid level	210	ALAD	ORPHA:100924
HP:0031980	Abnormal urine carboxylic acid level	3145	HMBS	ORPHA:79276
HP:0031980	Abnormal urine carboxylic acid level	7390	UROS	ORPHA:79277
HP:0031980	Abnormal urine carboxylic acid level	2623	GATA1	ORPHA:79277
HP:0031980	Abnormal urine carboxylic acid level	131669	UROC1	OMIM:276880
HP:0031980	Abnormal urine carboxylic acid level	131669	UROC1	ORPHA:210128
HP:0031980	Abnormal urine carboxylic acid level	3418	IDH2	OMIM:613657
HP:0031980	Abnormal urine carboxylic acid level	3417	IDH1	ORPHA:99646
HP:0031980	Abnormal urine carboxylic acid level	54914	FOCAD	OMIM:619991
HP:0031980	Abnormal urine carboxylic acid level	2110	ETFDH	OMIM:231680
HP:0031980	Abnormal urine carboxylic acid level	2108	ETFA	OMIM:231680
HP:0031980	Abnormal urine carboxylic acid level	2109	ETFB	OMIM:231680
HP:0031980	Abnormal urine carboxylic acid level	51117	COQ4	OMIM:616276
HP:0031980	Abnormal urine carboxylic acid level	4716	NDUFB10	OMIM:619003
HP:0031980	Abnormal urine carboxylic acid level	7915	ALDH5A1	OMIM:271980
HP:0031980	Abnormal urine carboxylic acid level	2271	FH	OMIM:606812
HP:0031980	Abnormal urine carboxylic acid level	6341	SCO1	OMIM:619048
HP:0031980	Abnormal urine carboxylic acid level	6576	SLC25A1	OMIM:615182
HP:0031980	Abnormal urine carboxylic acid level	64849	SLC13A3	OMIM:618384
HP:0031980	Abnormal urine carboxylic acid level	763	CA5A	OMIM:615751
HP:0031980	Abnormal urine carboxylic acid level	36	ACADSB	OMIM:610006
HP:0031980	Abnormal urine carboxylic acid level	3141	HLCS	OMIM:253270
HP:0031980	Abnormal urine carboxylic acid level	56922	MCCC1	OMIM:210200
HP:0031980	Abnormal urine carboxylic acid level	3081	HGD	ORPHA:56
HP:0031980	Abnormal urine carboxylic acid level	3081	HGD	OMIM:203500
HP:0031980	Abnormal urine carboxylic acid level	55526	DHTKD1	OMIM:204750
HP:0031980	Abnormal urine carboxylic acid level	166785	MMAA	OMIM:251100
HP:0031980	Abnormal urine carboxylic acid level	10841	FTCD	OMIM:229100
HP:0031980	Abnormal urine carboxylic acid level	79944	L2HGDH	OMIM:236792
HP:0031980	Abnormal urine carboxylic acid level	5019	OXCT1	OMIM:245050
HP:0031980	Abnormal urine carboxylic acid level	5053	PAH	OMIM:261600
HP:0031980	Abnormal urine carboxylic acid level	593	BCKDHA	OMIM:248600
HP:0031980	Abnormal urine carboxylic acid level	5095	PCCA	OMIM:606054
HP:0031980	Abnormal urine carboxylic acid level	5096	PCCB	OMIM:606054
HP:0031980	Abnormal urine carboxylic acid level	27247	NFU1	OMIM:605711
HP:0031980	Abnormal urine carboxylic acid level	8942	KYNU	OMIM:236800
HP:0031980	Abnormal urine carboxylic acid level	340024	SLC6A19	OMIM:234500
HP:0031980	Abnormal urine carboxylic acid level	189	AGXT	OMIM:259900
HP:0031980	Abnormal urine carboxylic acid level	2222	FDFT1	OMIM:618156
HP:0031980	Abnormal urine carboxylic acid level	1892	ECHS1	OMIM:616277
HP:0031980	Abnormal urine carboxylic acid level	51733	UPB1	OMIM:613161
HP:0031980	Abnormal urine carboxylic acid level	4598	MVK	OMIM:610377
HP:0031980	Abnormal urine carboxylic acid level	4329	ALDH6A1	OMIM:614105
HP:0031980	Abnormal urine carboxylic acid level	8659	ALDH4A1	OMIM:239510
HP:0031980	Abnormal urine carboxylic acid level	9380	GRHPR	OMIM:260000
HP:0031980	Abnormal urine carboxylic acid level	1644	DDC	OMIM:608643
HP:0031982	Abnormal putamen morphology	2639	GCDH	ORPHA:25
HP:0031982	Abnormal putamen morphology	23230	VPS13A	ORPHA:2388
HP:0031982	Abnormal putamen morphology	2512	FTL	ORPHA:157846
HP:0031982	Abnormal putamen morphology	5903	RANBP2	ORPHA:88619
HP:0031982	Abnormal putamen morphology	10381	TUBB3	OMIM:614039
HP:0031983	Abnormal pulmonary thoracic imaging finding	355	FAS	ORPHA:3261
HP:0031983	Abnormal pulmonary thoracic imaging finding	355	FAS	ORPHA:117
HP:0031983	Abnormal pulmonary thoracic imaging finding	356	FASLG	ORPHA:3261
HP:0031983	Abnormal pulmonary thoracic imaging finding	843	CASP10	ORPHA:3261
HP:0031983	Abnormal pulmonary thoracic imaging finding	330	BIRC3	ORPHA:52417
HP:0031983	Abnormal pulmonary thoracic imaging finding	10892	MALT1	ORPHA:52417
HP:0031983	Abnormal pulmonary thoracic imaging finding	27086	FOXP1	ORPHA:52417
HP:0031983	Abnormal pulmonary thoracic imaging finding	3492	IGH	ORPHA:52417
HP:0031983	Abnormal pulmonary thoracic imaging finding	8915	BCL10	ORPHA:52417
HP:0031983	Abnormal pulmonary thoracic imaging finding	5156	PDGFRA	OMIM:607685
HP:0031983	Abnormal pulmonary thoracic imaging finding	1493	CTLA4	ORPHA:900
HP:0031983	Abnormal pulmonary thoracic imaging finding	26191	PTPN22	ORPHA:900
HP:0031983	Abnormal pulmonary thoracic imaging finding	3115	HLA-DPB1	ORPHA:900
HP:0031983	Abnormal pulmonary thoracic imaging finding	5657	PRTN3	ORPHA:900
HP:0031983	Abnormal pulmonary thoracic imaging finding	3113	HLA-DPA1	ORPHA:900
HP:0031983	Abnormal pulmonary thoracic imaging finding	3043	HBB	ORPHA:251380
HP:0031983	Abnormal pulmonary thoracic imaging finding	53335	BCL11A	ORPHA:251380
HP:0031983	Abnormal pulmonary thoracic imaging finding	10661	KLF1	ORPHA:251380
HP:0031983	Abnormal pulmonary thoracic imaging finding	3047	HBG1	ORPHA:251380
HP:0031983	Abnormal pulmonary thoracic imaging finding	3048	HBG2	ORPHA:251380
HP:0031983	Abnormal pulmonary thoracic imaging finding	7317	UBA1	OMIM:301054
HP:0031983	Abnormal pulmonary thoracic imaging finding	2629	GBA1	OMIM:230800
HP:0031983	Abnormal pulmonary thoracic imaging finding	60468	BACH2	OMIM:618394
HP:0031983	Abnormal pulmonary thoracic imaging finding	3459	IFNGR1	OMIM:209950
HP:0031983	Abnormal pulmonary thoracic imaging finding	3459	IFNGR1	ORPHA:117
HP:0031983	Abnormal pulmonary thoracic imaging finding	7248	TSC1	ORPHA:538
HP:0031983	Abnormal pulmonary thoracic imaging finding	7249	TSC2	ORPHA:538
HP:0031983	Abnormal pulmonary thoracic imaging finding	9663	LPIN2	ORPHA:77297
HP:0031983	Abnormal pulmonary thoracic imaging finding	3123	HLA-DRB1	OMIM:181000
HP:0031983	Abnormal pulmonary thoracic imaging finding	3123	HLA-DRB1	ORPHA:220393
HP:0031983	Abnormal pulmonary thoracic imaging finding	348	APOE	ORPHA:158029
HP:0031983	Abnormal pulmonary thoracic imaging finding	56244	BTNL2	OMIM:612387
HP:0031983	Abnormal pulmonary thoracic imaging finding	5557	PRIM1	OMIM:620005
HP:0031983	Abnormal pulmonary thoracic imaging finding	21	ABCA3	ORPHA:217563
HP:0031983	Abnormal pulmonary thoracic imaging finding	6439	SFTPB	ORPHA:217563
HP:0031983	Abnormal pulmonary thoracic imaging finding	4615	MYD88	ORPHA:33226
HP:0031983	Abnormal pulmonary thoracic imaging finding	10568	SLC34A2	ORPHA:60025
HP:0031983	Abnormal pulmonary thoracic imaging finding	254428	SLC41A1	OMIM:619468
HP:0031983	Abnormal pulmonary thoracic imaging finding	1794	DOCK2	OMIM:616433
HP:0031983	Abnormal pulmonary thoracic imaging finding	1235	CCR6	ORPHA:220393
HP:0031983	Abnormal pulmonary thoracic imaging finding	1490	CCN2	ORPHA:220393
HP:0031983	Abnormal pulmonary thoracic imaging finding	3663	IRF5	ORPHA:220393
HP:0031983	Abnormal pulmonary thoracic imaging finding	857	CAV1	ORPHA:220393
HP:0031983	Abnormal pulmonary thoracic imaging finding	3559	IL2RA	OMIM:606367
HP:0031983	Abnormal pulmonary thoracic imaging finding	7080	NKX2-1	OMIM:610978
HP:0031983	Abnormal pulmonary thoracic imaging finding	5873	RAB27A	ORPHA:79477
HP:0031983	Abnormal pulmonary thoracic imaging finding	149233	IL23R	ORPHA:117
HP:0031983	Abnormal pulmonary thoracic imaging finding	6775	STAT4	ORPHA:117
HP:0031983	Abnormal pulmonary thoracic imaging finding	3586	IL10	ORPHA:117
HP:0031983	Abnormal pulmonary thoracic imaging finding	4210	MEFV	ORPHA:117
HP:0031983	Abnormal pulmonary thoracic imaging finding	1230	CCR1	ORPHA:117
HP:0031983	Abnormal pulmonary thoracic imaging finding	3592	IL12A	ORPHA:117
HP:0031983	Abnormal pulmonary thoracic imaging finding	101928376	IL12A-AS1	ORPHA:117
HP:0031983	Abnormal pulmonary thoracic imaging finding	3106	HLA-B	ORPHA:117
HP:0031983	Abnormal pulmonary thoracic imaging finding	7099	TLR4	ORPHA:117
HP:0031983	Abnormal pulmonary thoracic imaging finding	720	C4A	ORPHA:117
HP:0031983	Abnormal pulmonary thoracic imaging finding	337867	UBAC2	ORPHA:117
HP:0031983	Abnormal pulmonary thoracic imaging finding	51752	ERAP1	ORPHA:117
HP:0031983	Abnormal pulmonary thoracic imaging finding	8302	KLRC4	ORPHA:117
HP:0031983	Abnormal pulmonary thoracic imaging finding	6609	SMPD1	OMIM:607616
HP:0031983	Abnormal pulmonary thoracic imaging finding	6609	SMPD1	OMIM:257200
HP:0031983	Abnormal pulmonary thoracic imaging finding	64135	IFIH1	OMIM:619773
HP:0031983	Abnormal pulmonary thoracic imaging finding	440275	EIF2AK4	ORPHA:199241
HP:0031983	Abnormal pulmonary thoracic imaging finding	826	CAPNS1	OMIM:620777
HP:0031983	Abnormal pulmonary thoracic imaging finding	7015	TERT	OMIM:614742
HP:0031983	Abnormal pulmonary thoracic imaging finding	7015	TERT	ORPHA:2032
HP:0031983	Abnormal pulmonary thoracic imaging finding	729238	SFTPA2	ORPHA:2032
HP:0031983	Abnormal pulmonary thoracic imaging finding	79991	STN1	ORPHA:2032
HP:0031983	Abnormal pulmonary thoracic imaging finding	653509	SFTPA1	ORPHA:2032
HP:0031983	Abnormal pulmonary thoracic imaging finding	1832	DSP	ORPHA:2032
HP:0031983	Abnormal pulmonary thoracic imaging finding	727897	MUC5B	ORPHA:2032
HP:0031983	Abnormal pulmonary thoracic imaging finding	10144	FAM13A	ORPHA:2032
HP:0031983	Abnormal pulmonary thoracic imaging finding	23250	ATP11A	ORPHA:2032
HP:0031983	Abnormal pulmonary thoracic imaging finding	91039	DPP9	ORPHA:2032
HP:0031983	Abnormal pulmonary thoracic imaging finding	51750	RTEL1	ORPHA:2032
HP:0031983	Abnormal pulmonary thoracic imaging finding	7012	TERC	ORPHA:2032
HP:0031983	Abnormal pulmonary thoracic imaging finding	5073	PARN	ORPHA:2032
HP:0031983	Abnormal pulmonary thoracic imaging finding	1439	CSF2RB	ORPHA:264675
HP:0031983	Abnormal pulmonary thoracic imaging finding	1438	CSF2RA	ORPHA:264675
HP:0031983	Abnormal pulmonary thoracic imaging finding	1281	COL3A1	OMIM:130050
HP:0031983	Abnormal pulmonary thoracic imaging finding	659	BMPR2	OMIM:265450
HP:0031983	Abnormal pulmonary thoracic imaging finding	4688	NCF2	OMIM:233710
HP:0031983	Abnormal pulmonary thoracic imaging finding	6772	STAT1	OMIM:614162
HP:0031983	Abnormal pulmonary thoracic imaging finding	1536	CYBB	OMIM:306400
HP:0031983	Abnormal pulmonary thoracic imaging finding	567	B2M	OMIM:241600
HP:0031983	Abnormal pulmonary thoracic imaging finding	23095	KIF1B	OMIM:256700
HP:0031983	Abnormal pulmonary thoracic imaging finding	596	BCL2	ORPHA:545
HP:0031983	Abnormal pulmonary thoracic imaging finding	604	BCL6	ORPHA:545
HP:0031983	Abnormal pulmonary thoracic imaging finding	27019	DNAI1	OMIM:244400
HP:0031983	Abnormal pulmonary thoracic imaging finding	27019	DNAI1	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	427	ASAH1	ORPHA:333
HP:0031983	Abnormal pulmonary thoracic imaging finding	126792	B3GALT6	ORPHA:536467
HP:0031983	Abnormal pulmonary thoracic imaging finding	6440	SFTPC	ORPHA:685082
HP:0031983	Abnormal pulmonary thoracic imaging finding	92749	DRC1	OMIM:615294
HP:0031983	Abnormal pulmonary thoracic imaging finding	92749	DRC1	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	6103	RPGR	OMIM:300455
HP:0031983	Abnormal pulmonary thoracic imaging finding	6103	RPGR	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	54101	RIPK4	ORPHA:1401
HP:0031983	Abnormal pulmonary thoracic imaging finding	6774	STAT3	ORPHA:2314
HP:0031983	Abnormal pulmonary thoracic imaging finding	8425	LTBP4	OMIM:613177
HP:0031983	Abnormal pulmonary thoracic imaging finding	10309	CCNO	OMIM:615872
HP:0031983	Abnormal pulmonary thoracic imaging finding	10309	CCNO	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	2622	GAS8	OMIM:616726
HP:0031983	Abnormal pulmonary thoracic imaging finding	2622	GAS8	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	713	C1QB	OMIM:620321
HP:0031983	Abnormal pulmonary thoracic imaging finding	1312	COMT	ORPHA:567
HP:0031983	Abnormal pulmonary thoracic imaging finding	221037	JMJD1C	ORPHA:567
HP:0031983	Abnormal pulmonary thoracic imaging finding	2812	GP1BB	ORPHA:567
HP:0031983	Abnormal pulmonary thoracic imaging finding	6239	RREB1	ORPHA:567
HP:0031983	Abnormal pulmonary thoracic imaging finding	6899	TBX1	ORPHA:567
HP:0031983	Abnormal pulmonary thoracic imaging finding	6899	TBX1	OMIM:188400
HP:0031983	Abnormal pulmonary thoracic imaging finding	7290	HIRA	ORPHA:567
HP:0031983	Abnormal pulmonary thoracic imaging finding	9632	SEC24C	ORPHA:567
HP:0031983	Abnormal pulmonary thoracic imaging finding	7353	UFD1	ORPHA:567
HP:0031983	Abnormal pulmonary thoracic imaging finding	421	ARVCF	ORPHA:567
HP:0031983	Abnormal pulmonary thoracic imaging finding	25981	DNAH1	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	115948	ODAD3	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	54768	HYDIN	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	352909	DNAAF3	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	27148	STK36	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	51314	NME8	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	54970	TTC12	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	152110	NEK10	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	8481	OFD1	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	2302	FOXJ1	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	221421	RSPH9	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	85478	CCDC65	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	55036	CCDC40	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	51364	ZMYND10	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	64446	DNAI2	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	8382	NME5	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	6674	SPAG1	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	83544	DNAL1	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	89765	RSPH1	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	83538	ODAD4	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	200373	CFAP221	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	374407	DNAJB13	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	55172	DNAAF2	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	161582	DNAAF4	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	23639	DNAAF11	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	345895	RSPH4A	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	54919	DNAAF5	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	85452	CFAP74	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	93233	ODAD1	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	93233	ODAD1	OMIM:615067
HP:0031983	Abnormal pulmonary thoracic imaging finding	55130	ODAD2	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	1767	DNAH5	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	83861	RSPH3	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	345643	MCIDAS	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	56683	CFAP298	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	79925	SPEF2	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	115399	LRRC56	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	139212	DNAAF6	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	123872	DNAAF1	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	85016	CFAP300	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	339829	CCDC39	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	8701	DNAH11	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	1770	DNAH9	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	246176	GAS2L2	ORPHA:244
HP:0031983	Abnormal pulmonary thoracic imaging finding	5339	PLEC	ORPHA:254361
HP:0031983	Abnormal pulmonary thoracic imaging finding	7852	CXCR4	ORPHA:51636
HP:0031983	Abnormal pulmonary thoracic imaging finding	374354	NHLRC2	OMIM:618278
HP:0031983	Abnormal pulmonary thoracic imaging finding	7161	TP73	OMIM:619466
HP:0031983	Abnormal pulmonary thoracic imaging finding	10551	AGR2	OMIM:620233
HP:0031983	Abnormal pulmonary thoracic imaging finding	4952	OCRL	ORPHA:534
HP:0031983	Abnormal pulmonary thoracic imaging finding	3908	LAMA2	ORPHA:258
HP:0031983	Abnormal pulmonary thoracic imaging finding	5077	PAX3	ORPHA:896
HP:0031983	Abnormal pulmonary thoracic imaging finding	90952	ESAM	OMIM:620371
HP:0031984	Esophageal food impaction	6774	STAT3	OMIM:147060
HP:0031986	Polyminimyoclonus	182	JAG1	OMIM:619574
HP:0031987	Diminished ability to concentrate	2077	ERF	OMIM:600775
HP:0031987	Diminished ability to concentrate	6907	TBL1X	OMIM:301033
HP:0031987	Diminished ability to concentrate	56652	TWNK	OMIM:607459
HP:0031987	Diminished ability to concentrate	5428	POLG	OMIM:607459
HP:0031987	Diminished ability to concentrate	11277	TREX1	OMIM:192315
HP:0031987	Diminished ability to concentrate	284361	EMC10	OMIM:619264
HP:0031987	Diminished ability to concentrate	6711	SPTBN1	OMIM:619475
HP:0031987	Diminished ability to concentrate	8924	HERC2	OMIM:615516
HP:0031987	Diminished ability to concentrate	3183	HNRNPC	OMIM:620688
HP:0031987	Diminished ability to concentrate	81615	TMEM163	OMIM:620243
HP:0031987	Diminished ability to concentrate	51816	ADA2	ORPHA:820
HP:0031987	Diminished ability to concentrate	54808	DYM	ORPHA:239
HP:0003394	Muscle spasm	291	SLC25A4	ORPHA:254892
HP:0003394	Muscle spasm	5428	POLG	ORPHA:254892
HP:0003394	Muscle spasm	56652	TWNK	ORPHA:254892
HP:0003394	Muscle spasm	11232	POLG2	ORPHA:254892
HP:0003394	Muscle spasm	50484	RRM2B	ORPHA:254892
HP:0003394	Muscle spasm	1145	CHRNE	OMIM:608931
HP:0003394	Muscle spasm	2673	GFPT1	OMIM:608931
HP:0003394	Muscle spasm	2673	GFPT1	ORPHA:353327
HP:0003394	Muscle spasm	2673	GFPT1	OMIM:610542
HP:0003394	Muscle spasm	4287	ATXN3	OMIM:109150
HP:0003394	Muscle spasm	4287	ATXN3	ORPHA:276238
HP:0003394	Muscle spasm	4287	ATXN3	ORPHA:276244
HP:0003394	Muscle spasm	4287	ATXN3	ORPHA:276241
HP:0003394	Muscle spasm	9897	WASHC5	ORPHA:100989
HP:0003394	Muscle spasm	80207	OPA3	ORPHA:67036
HP:0003394	Muscle spasm	54517	PUS7	OMIM:618342
HP:0003394	Muscle spasm	22880	MORC2	OMIM:616688
HP:0003394	Muscle spasm	22880	MORC2	ORPHA:466768
HP:0003394	Muscle spasm	60684	TRAPPC11	OMIM:615356
HP:0003394	Muscle spasm	60684	TRAPPC11	ORPHA:369840
HP:0003394	Muscle spasm	3703	STT3A	OMIM:619714
HP:0003394	Muscle spasm	55733	HHAT	OMIM:600092
HP:0003394	Muscle spasm	3315	HSPB1	OMIM:606595
HP:0003394	Muscle spasm	2778	GNAS	ORPHA:94089
HP:0003394	Muscle spasm	2778	GNAS	ORPHA:79443
HP:0003394	Muscle spasm	2778	GNAS	ORPHA:79444
HP:0003394	Muscle spasm	8675	STX16	ORPHA:94089
HP:0003394	Muscle spasm	6840	SVIL	OMIM:619040
HP:0003394	Muscle spasm	2767	GNA11	OMIM:615361
HP:0003394	Muscle spasm	3074	HEXB	ORPHA:309169
HP:0003394	Muscle spasm	1763	DNA2	ORPHA:352470
HP:0003394	Muscle spasm	1763	DNA2	OMIM:615156
HP:0003394	Muscle spasm	3939	LDHA	OMIM:612933
HP:0003394	Muscle spasm	3736	KCNA1	ORPHA:37612
HP:0003394	Muscle spasm	54822	TRPM7	OMIM:105500
HP:0003394	Muscle spasm	1586	CYP17A1	ORPHA:90793
HP:0003394	Muscle spasm	79147	FKRP	OMIM:607155
HP:0003394	Muscle spasm	79147	FKRP	OMIM:606612
HP:0003394	Muscle spasm	79147	FKRP	ORPHA:370980
HP:0003394	Muscle spasm	29925	GMPPB	ORPHA:353327
HP:0003394	Muscle spasm	29925	GMPPB	ORPHA:363623
HP:0003394	Muscle spasm	1798	DPAGT1	ORPHA:353327
HP:0003394	Muscle spasm	85365	ALG2	ORPHA:353327
HP:0003394	Muscle spasm	199857	ALG14	ORPHA:353327
HP:0003394	Muscle spasm	140803	TRPM6	OMIM:602014
HP:0003394	Muscle spasm	1738	DLD	ORPHA:2394
HP:0003394	Muscle spasm	28982	FLVCR1	ORPHA:88628
HP:0003394	Muscle spasm	84340	GFM2	ORPHA:565624
HP:0003394	Muscle spasm	1716	DGUOK	ORPHA:329314
HP:0003394	Muscle spasm	2629	GBA1	ORPHA:411602
HP:0003394	Muscle spasm	23317	DNAJC13	ORPHA:411602
HP:0003394	Muscle spasm	1981	EIF4G1	ORPHA:411602
HP:0003394	Muscle spasm	55737	VPS35	ORPHA:411602
HP:0003394	Muscle spasm	120892	LRRK2	ORPHA:411602
HP:0003394	Muscle spasm	120892	LRRK2	ORPHA:2828
HP:0003394	Muscle spasm	26058	GIGYF2	ORPHA:411602
HP:0003394	Muscle spasm	6622	SNCA	ORPHA:411602
HP:0003394	Muscle spasm	6622	SNCA	ORPHA:2828
HP:0003394	Muscle spasm	5257	PHKB	ORPHA:79240
HP:0003394	Muscle spasm	29967	LRP12	OMIM:164310
HP:0003394	Muscle spasm	9217	VAPB	ORPHA:209335
HP:0003394	Muscle spasm	9217	VAPB	OMIM:608627
HP:0003394	Muscle spasm	9217	VAPB	ORPHA:803
HP:0003394	Muscle spasm	9217	VAPB	OMIM:182980
HP:0003394	Muscle spasm	1277	COL1A1	ORPHA:287
HP:0003394	Muscle spasm	1289	COL5A1	ORPHA:287
HP:0003394	Muscle spasm	1290	COL5A2	ORPHA:287
HP:0003394	Muscle spasm	2632	GBE1	OMIM:263570
HP:0003394	Muscle spasm	112812	FDX2	OMIM:251900
HP:0003394	Muscle spasm	6557	SLC12A1	OMIM:601678
HP:0003394	Muscle spasm	6329	SCN4A	ORPHA:681
HP:0003394	Muscle spasm	6329	SCN4A	ORPHA:99735
HP:0003394	Muscle spasm	6329	SCN4A	ORPHA:99736
HP:0003394	Muscle spasm	779	CACNA1S	ORPHA:681
HP:0003394	Muscle spasm	779	CACNA1S	ORPHA:79102
HP:0003394	Muscle spasm	10008	KCNE3	ORPHA:681
HP:0003394	Muscle spasm	3758	KCNJ1	OMIM:241200
HP:0003394	Muscle spasm	146206	CARMIL2	OMIM:618131
HP:0003394	Muscle spasm	844	CASQ1	OMIM:616231
HP:0003394	Muscle spasm	844	CASQ1	ORPHA:2593
HP:0003394	Muscle spasm	54872	PIGG	ORPHA:488635
HP:0003394	Muscle spasm	246243	RNASEH1	OMIM:616479
HP:0003394	Muscle spasm	10058	ABCB6	OMIM:609153
HP:0003394	Muscle spasm	54832	VPS13C	ORPHA:2828
HP:0003394	Muscle spasm	11315	PARK7	ORPHA:2828
HP:0003394	Muscle spasm	7345	UCHL1	ORPHA:2828
HP:0003394	Muscle spasm	27429	HTRA2	ORPHA:2828
HP:0003394	Muscle spasm	9829	DNAJC6	ORPHA:2828
HP:0003394	Muscle spasm	5420	PODXL	ORPHA:2828
HP:0003394	Muscle spasm	65018	PINK1	ORPHA:2828
HP:0003394	Muscle spasm	8867	SYNJ1	ORPHA:2828
HP:0003394	Muscle spasm	5071	PRKN	ORPHA:2828
HP:0003394	Muscle spasm	2218	FKTN	ORPHA:370980
HP:0003394	Muscle spasm	729920	CRPPA	ORPHA:370980
HP:0003394	Muscle spasm	10585	POMT1	ORPHA:370980
HP:0003394	Muscle spasm	5230	PGK1	ORPHA:713
HP:0003394	Muscle spasm	4747	NEFL	ORPHA:101085
HP:0003394	Muscle spasm	2395	FXN	ORPHA:95
HP:0003394	Muscle spasm	5255	PHKA1	ORPHA:715
HP:0003394	Muscle spasm	5260	PHKG1	ORPHA:715
HP:0003394	Muscle spasm	1756	DMD	ORPHA:98895
HP:0003394	Muscle spasm	1756	DMD	ORPHA:206546
HP:0003394	Muscle spasm	10367	MICU1	OMIM:615673
HP:0003394	Muscle spasm	7415	VCP	ORPHA:435387
HP:0003394	Muscle spasm	7415	VCP	ORPHA:329478
HP:0003394	Muscle spasm	7415	VCP	ORPHA:803
HP:0003394	Muscle spasm	57863	CADM3	OMIM:619519
HP:0003394	Muscle spasm	1282	COL4A1	ORPHA:73229
HP:0003394	Muscle spasm	1282	COL4A1	OMIM:611773
HP:0003394	Muscle spasm	3032	HADHB	ORPHA:746
HP:0003394	Muscle spasm	3030	HADHA	ORPHA:746
HP:0003394	Muscle spasm	3030	HADHA	OMIM:609015
HP:0003394	Muscle spasm	8659	ALDH4A1	ORPHA:79101
HP:0003394	Muscle spasm	100134444	KCNJ18	ORPHA:79102
HP:0003394	Muscle spasm	2556	GABRA3	ORPHA:79102
HP:0003394	Muscle spasm	6606	SMN1	OMIM:253400
HP:0003394	Muscle spasm	6607	SMN2	OMIM:253400
HP:0003394	Muscle spasm	476	ATP1A1	OMIM:618036
HP:0003394	Muscle spasm	400916	CHCHD10	OMIM:615048
HP:0003394	Muscle spasm	400916	CHCHD10	ORPHA:803
HP:0003394	Muscle spasm	84033	OBSCN	ORPHA:99845
HP:0003394	Muscle spasm	23175	LPIN1	ORPHA:99845
HP:0003394	Muscle spasm	4512	MT-CO1	ORPHA:99845
HP:0003394	Muscle spasm	4514	MT-CO3	ORPHA:99845
HP:0003394	Muscle spasm	6311	ATXN2	ORPHA:98756
HP:0003394	Muscle spasm	6311	ATXN2	ORPHA:803
HP:0003394	Muscle spasm	10342	TFG	OMIM:604484
HP:0003394	Muscle spasm	1180	CLCN1	ORPHA:614
HP:0003394	Muscle spasm	270	AMPD1	ORPHA:45
HP:0003394	Muscle spasm	272	AMPD3	ORPHA:45
HP:0003394	Muscle spasm	3094	HINT1	OMIM:137200
HP:0003394	Muscle spasm	34	ACADM	ORPHA:42
HP:0003394	Muscle spasm	2717	GLA	OMIM:301500
HP:0003394	Muscle spasm	339855	KY	ORPHA:496689
HP:0003394	Muscle spasm	859	CAV3	OMIM:123320
HP:0003394	Muscle spasm	81545	FBXO38	OMIM:615575
HP:0003394	Muscle spasm	1376	CPT2	ORPHA:228302
HP:0003394	Muscle spasm	1376	CPT2	OMIM:255110
HP:0003394	Muscle spasm	84876	ORAI1	ORPHA:2593
HP:0003394	Muscle spasm	6786	STIM1	ORPHA:2593
HP:0003394	Muscle spasm	6786	STIM1	OMIM:160565
HP:0003394	Muscle spasm	2581	GALC	ORPHA:206436
HP:0003394	Muscle spasm	5660	PSAP	ORPHA:206436
HP:0003394	Muscle spasm	25978	CHMP2B	ORPHA:803
HP:0003394	Muscle spasm	3178	HNRNPA1	ORPHA:803
HP:0003394	Muscle spasm	8148	TAF15	ORPHA:803
HP:0003394	Muscle spasm	5445	PON2	ORPHA:803
HP:0003394	Muscle spasm	8878	SQSTM1	ORPHA:803
HP:0003394	Muscle spasm	5630	PRPH	ORPHA:803
HP:0003394	Muscle spasm	5630	PRPH	OMIM:105400
HP:0003394	Muscle spasm	29110	TBK1	ORPHA:803
HP:0003394	Muscle spasm	55830	GLT8D1	ORPHA:803
HP:0003394	Muscle spasm	755	CFAP410	ORPHA:803
HP:0003394	Muscle spasm	10891	PPARGC1A	ORPHA:803
HP:0003394	Muscle spasm	6647	SOD1	ORPHA:803
HP:0003394	Muscle spasm	6647	SOD1	OMIM:105400
HP:0003394	Muscle spasm	10133	OPTN	ORPHA:803
HP:0003394	Muscle spasm	1639	DCTN1	ORPHA:803
HP:0003394	Muscle spasm	1639	DCTN1	OMIM:105400
HP:0003394	Muscle spasm	9896	FIG4	ORPHA:803
HP:0003394	Muscle spasm	5444	PON1	ORPHA:803
HP:0003394	Muscle spasm	5446	PON3	ORPHA:803
HP:0003394	Muscle spasm	4744	NEFH	ORPHA:803
HP:0003394	Muscle spasm	4744	NEFH	OMIM:105400
HP:0003394	Muscle spasm	5216	PFN1	ORPHA:803
HP:0003394	Muscle spasm	9782	MATR3	ORPHA:803
HP:0003394	Muscle spasm	54209	TREM2	ORPHA:803
HP:0003394	Muscle spasm	283	ANG	ORPHA:803
HP:0003394	Muscle spasm	23435	TARDBP	ORPHA:803
HP:0003394	Muscle spasm	29978	UBQLN2	ORPHA:803
HP:0003394	Muscle spasm	2733	GLE1	ORPHA:803
HP:0003394	Muscle spasm	2521	FUS	ORPHA:803
HP:0003394	Muscle spasm	4750	NEK1	ORPHA:803
HP:0003394	Muscle spasm	1610	DAO	ORPHA:803
HP:0003394	Muscle spasm	2066	ERBB4	ORPHA:803
HP:0003394	Muscle spasm	311	ANXA11	ORPHA:803
HP:0003394	Muscle spasm	23025	UNC13A	ORPHA:803
HP:0003394	Muscle spasm	899	CCNF	ORPHA:803
HP:0003394	Muscle spasm	4508	MT-ATP6	ORPHA:644
HP:0003394	Muscle spasm	23479	ISCU	OMIM:255125
HP:0003394	Muscle spasm	5832	ALDH18A1	ORPHA:447753
HP:0003394	Muscle spasm	5376	PMP22	ORPHA:640
HP:0003394	Muscle spasm	37	ACADVL	ORPHA:26793
HP:0003394	Muscle spasm	6253	RTN2	ORPHA:100993
HP:0003394	Muscle spasm	51271	UBAP1	ORPHA:100993
HP:0003394	Muscle spasm	846	CASR	OMIM:601198
HP:0003394	Muscle spasm	3839	KPNA3	ORPHA:171612
HP:0003394	Muscle spasm	84842	HPDL	OMIM:619027
HP:0003394	Muscle spasm	51776	MAP3K20	OMIM:617760
HP:0003394	Muscle spasm	5256	PHKA2	ORPHA:264580
HP:0003394	Muscle spasm	5261	PHKG2	ORPHA:264580
HP:0003394	Muscle spasm	79628	SH3TC2	ORPHA:99949
HP:0003394	Muscle spasm	6559	SLC12A3	OMIM:263800
HP:0003394	Muscle spasm	6559	SLC12A3	ORPHA:358
HP:0003394	Muscle spasm	367	AR	OMIM:313200
HP:0003394	Muscle spasm	9927	MFN2	ORPHA:99947
HP:0003394	Muscle spasm	1188	CLCNKB	ORPHA:358
HP:0003394	Muscle spasm	6310	ATXN1	OMIM:164400
HP:0003394	Muscle spasm	285489	DOK7	OMIM:254300
HP:0003394	Muscle spasm	8729	GBF1	OMIM:606483
HP:0003394	Muscle spasm	2617	GARS1	OMIM:600794
HP:0003394	Muscle spasm	2617	GARS1	ORPHA:139536
HP:0003394	Muscle spasm	2617	GARS1	OMIM:601472
HP:0003394	Muscle spasm	26580	BSCL2	ORPHA:139536
HP:0003394	Muscle spasm	65055	REEP1	ORPHA:139536
HP:0003394	Muscle spasm	4359	MPZ	OMIM:118200
HP:0003394	Muscle spasm	487	ATP2A1	OMIM:601003
HP:0003394	Muscle spasm	6566	SLC16A1	OMIM:245340
HP:0003394	Muscle spasm	3920	LAMP2	OMIM:300257
HP:0003394	Muscle spasm	5224	PGAM2	OMIM:261670
HP:0003394	Muscle spasm	5213	PFKM	OMIM:232800
HP:0003394	Muscle spasm	3908	LAMA2	OMIM:618138
HP:0003394	Muscle spasm	5837	PYGM	OMIM:232600
HP:0003394	Muscle spasm	5837	PYGM	ORPHA:368
HP:0003394	Muscle spasm	90523	MLIP	OMIM:620138
HP:0003394	Muscle spasm	6261	RYR1	ORPHA:466650
HP:0003394	Muscle spasm	5836	PYGL	ORPHA:369
HP:0003394	Muscle spasm	1807	DPYS	OMIM:222748
HP:0005853	Congenital foot contraction deformities	23299	BICD2	ORPHA:363454
HP:0005852	Limited elbow extension and supination	9968	MED12	ORPHA:93932
HP:0005852	Limited elbow extension and supination	7474	WNT5A	OMIM:180700
HP:0005852	Limited elbow extension and supination	1855	DVL1	OMIM:180700
HP:0001155	Abnormality of the hand	83932	SPRTN	OMIM:616200
HP:0001155	Abnormality of the hand	8425	LTBP4	OMIM:613177
HP:0001155	Abnormality of the hand	51506	UFC1	OMIM:618076
HP:0001155	Abnormality of the hand	6812	STXBP1	ORPHA:495818
HP:0001155	Abnormality of the hand	84987	COX14	OMIM:619053
HP:0001155	Abnormality of the hand	54453	RIN2	OMIM:613075
HP:0001155	Abnormality of the hand	3899	AFF3	OMIM:619297
HP:0001155	Abnormality of the hand	114034	TOE1	OMIM:614969
HP:0001155	Abnormality of the hand	5442	POLRMT	OMIM:619743
HP:0001155	Abnormality of the hand	132158	GLYCTK	OMIM:220120
HP:0001155	Abnormality of the hand	55148	UBR7	OMIM:619189
HP:0001155	Abnormality of the hand	4591	TRIM37	OMIM:253250
HP:0001155	Abnormality of the hand	54539	NDUFB11	OMIM:309801
HP:0001155	Abnormality of the hand	1349	COX7B	OMIM:309801
HP:0001155	Abnormality of the hand	3052	HCCS	OMIM:309801
HP:0001155	Abnormality of the hand	9681	DEPDC5	OMIM:620504
HP:0001155	Abnormality of the hand	5828	PEX2	OMIM:614866
HP:0001155	Abnormality of the hand	23137	SMC5	OMIM:620185
HP:0001155	Abnormality of the hand	11338	U2AF2	OMIM:620535
HP:0001155	Abnormality of the hand	5193	PEX12	OMIM:266510
HP:0001155	Abnormality of the hand	6418	SET	OMIM:618106
HP:0001155	Abnormality of the hand	5515	PPP2CA	OMIM:618354
HP:0001155	Abnormality of the hand	23097	CDK19	OMIM:618916
HP:0001155	Abnormality of the hand	5530	PPP3CA	OMIM:617711
HP:0001155	Abnormality of the hand	80746	TSEN2	OMIM:612389
HP:0001155	Abnormality of the hand	5160	PDHA1	ORPHA:79243
HP:0001155	Abnormality of the hand	57187	THOC2	ORPHA:457240
HP:0001155	Abnormality of the hand	4329	ALDH6A1	OMIM:614105
HP:0001155	Abnormality of the hand	55617	TASP1	OMIM:618950
HP:0001155	Abnormality of the hand	83737	ITCH	OMIM:613385
HP:0001155	Abnormality of the hand	1748	DLX4	OMIM:616788
HP:0001155	Abnormality of the hand	738	VPS51	OMIM:618606
HP:0001155	Abnormality of the hand	51594	NBAS	OMIM:614800
HP:0001155	Abnormality of the hand	523	ATP6V1A	OMIM:617403
HP:0001155	Abnormality of the hand	3858	KRT10	OMIM:607602
HP:0001155	Abnormality of the hand	3858	KRT10	OMIM:620150
HP:0001155	Abnormality of the hand	3858	KRT10	OMIM:609165
HP:0001155	Abnormality of the hand	121214	SDR9C7	OMIM:617574
HP:0001155	Abnormality of the hand	55505	NOP10	OMIM:224230
HP:0001155	Abnormality of the hand	55651	NHP2	OMIM:224230
HP:0001155	Abnormality of the hand	11012	KLK11	OMIM:620507
HP:0001155	Abnormality of the hand	121391	KRT74	OMIM:194300
HP:0001155	Abnormality of the hand	3891	KRT85	OMIM:602032
HP:0001155	Abnormality of the hand	7373	COL14A1	ORPHA:79501
HP:0001155	Abnormality of the hand	79719	AAGAB	ORPHA:79501
HP:0001155	Abnormality of the hand	5605	MAP2K2	OMIM:615280
HP:0001155	Abnormality of the hand	57511	COG6	ORPHA:363523
HP:0001155	Abnormality of the hand	57511	COG6	OMIM:615328
HP:0001155	Abnormality of the hand	5818	NECTIN1	ORPHA:3253
HP:0001155	Abnormality of the hand	5818	NECTIN1	OMIM:225060
HP:0001155	Abnormality of the hand	3889	KRT83	OMIM:617756
HP:0001155	Abnormality of the hand	4014	LORICRIN	ORPHA:79395
HP:0001155	Abnormality of the hand	79092	CARD14	OMIM:173200
HP:0001155	Abnormality of the hand	79092	CARD14	ORPHA:2897
HP:0001155	Abnormality of the hand	79650	USB1	OMIM:604173
HP:0001155	Abnormality of the hand	79650	USB1	ORPHA:1775
HP:0001155	Abnormality of the hand	162	AP1B1	OMIM:242150
HP:0001155	Abnormality of the hand	4574	MT-TS1	ORPHA:2202
HP:0001155	Abnormality of the hand	1824	DSC2	OMIM:610476
HP:0001155	Abnormality of the hand	3849	KRT2	ORPHA:455
HP:0001155	Abnormality of the hand	6898	TAT	ORPHA:28378
HP:0001155	Abnormality of the hand	10483	SEC23B	ORPHA:201
HP:0001155	Abnormality of the hand	6392	SDHD	ORPHA:201
HP:0001155	Abnormality of the hand	205717	USF3	ORPHA:201
HP:0001155	Abnormality of the hand	100144748	KLLN	ORPHA:201
HP:0001155	Abnormality of the hand	285848	PNPLA1	OMIM:615024
HP:0001155	Abnormality of the hand	285848	PNPLA1	ORPHA:79394
HP:0001155	Abnormality of the hand	23328	SASH1	OMIM:618373
HP:0001155	Abnormality of the hand	1474	CST6	OMIM:618535
HP:0001155	Abnormality of the hand	54795	TRPM4	ORPHA:316
HP:0001155	Abnormality of the hand	348938	NIPAL4	OMIM:612281
HP:0001155	Abnormality of the hand	348938	NIPAL4	ORPHA:79394
HP:0001155	Abnormality of the hand	51371	POMP	ORPHA:281201
HP:0001155	Abnormality of the hand	25959	KANK2	OMIM:616099
HP:0001155	Abnormality of the hand	57192	MCOLN1	ORPHA:578
HP:0001155	Abnormality of the hand	1493	CTLA4	ORPHA:3162
HP:0001155	Abnormality of the hand	940	CD28	ORPHA:3162
HP:0001155	Abnormality of the hand	7133	TNFRSF1B	ORPHA:3162
HP:0001155	Abnormality of the hand	9342	SNAP29	OMIM:609528
HP:0001155	Abnormality of the hand	10848	PPP1R13L	OMIM:620519
HP:0001155	Abnormality of the hand	79977	GRHL2	OMIM:616029
HP:0001155	Abnormality of the hand	286887	KRT6C	OMIM:615735
HP:0001155	Abnormality of the hand	79651	RHBDF2	ORPHA:2198
HP:0001155	Abnormality of the hand	79644	SRD5A3	ORPHA:324737
HP:0001155	Abnormality of the hand	80169	CTC1	ORPHA:1775
HP:0001155	Abnormality of the hand	26277	TINF2	ORPHA:1775
HP:0001155	Abnormality of the hand	55135	WRAP53	ORPHA:1775
HP:0001155	Abnormality of the hand	4869	NPM1	ORPHA:1775
HP:0001155	Abnormality of the hand	1736	DKC1	ORPHA:1775
HP:0001155	Abnormality of the hand	7286	TUFT1	OMIM:620415
HP:0001155	Abnormality of the hand	6820	SULT2B1	ORPHA:79394
HP:0001155	Abnormality of the hand	7298	TYMS	OMIM:620040
HP:0001155	Abnormality of the hand	55636	CHD7	OMIM:214800
HP:0001155	Abnormality of the hand	22827	PUF60	ORPHA:508498
HP:0001155	Abnormality of the hand	22827	PUF60	ORPHA:508488
HP:0001155	Abnormality of the hand	3736	KCNA1	OMIM:160120
HP:0001155	Abnormality of the hand	1593	CYP27A1	ORPHA:909
HP:0001155	Abnormality of the hand	7355	SLC35A2	ORPHA:356961
HP:0001155	Abnormality of the hand	540	ATP7B	ORPHA:905
HP:0001155	Abnormality of the hand	56983	POGLUT1	ORPHA:79145
HP:0001155	Abnormality of the hand	3852	KRT5	ORPHA:79145
HP:0001155	Abnormality of the hand	23509	POFUT1	ORPHA:79145
HP:0001155	Abnormality of the hand	55851	PSENEN	ORPHA:79145
HP:0001155	Abnormality of the hand	5447	POR	ORPHA:95699
HP:0001155	Abnormality of the hand	6775	STAT4	ORPHA:85408
HP:0001155	Abnormality of the hand	3560	IL2RB	ORPHA:85408
HP:0001155	Abnormality of the hand	79722	ANKRD55	ORPHA:85408
HP:0001155	Abnormality of the hand	26191	PTPN22	ORPHA:85408
HP:0001155	Abnormality of the hand	919	CD247	ORPHA:85408
HP:0001155	Abnormality of the hand	3559	IL2RA	ORPHA:85408
HP:0001155	Abnormality of the hand	5771	PTPN2	ORPHA:85408
HP:0001155	Abnormality of the hand	57152	SLURP1	ORPHA:87503
HP:0001155	Abnormality of the hand	7204	TRIO	ORPHA:476126
HP:0001155	Abnormality of the hand	54487	DGCR8	OMIM:192430
HP:0001155	Abnormality of the hand	6899	TBX1	OMIM:192430
HP:0001155	Abnormality of the hand	8214	DGCR6	OMIM:192430
HP:0001155	Abnormality of the hand	8220	ESS2	OMIM:192430
HP:0001155	Abnormality of the hand	9993	DGCR2	OMIM:192430
HP:0001155	Abnormality of the hand	23314	SATB2	ORPHA:576283
HP:0001155	Abnormality of the hand	5428	POLG	ORPHA:298
HP:0001155	Abnormality of the hand	1890	TYMP	ORPHA:298
HP:0001155	Abnormality of the hand	3980	LIG3	ORPHA:298
HP:0001155	Abnormality of the hand	50484	RRM2B	ORPHA:298
HP:0001155	Abnormality of the hand	427	ASAH1	ORPHA:333
HP:0001155	Abnormality of the hand	51360	MBTPS2	ORPHA:2273
HP:0001155	Abnormality of the hand	2717	GLA	OMIM:301500
HP:0001155	Abnormality of the hand	22930	RAB3GAP1	ORPHA:1387
HP:0001155	Abnormality of the hand	25782	RAB3GAP2	ORPHA:1387
HP:0001155	Abnormality of the hand	4210	MEFV	ORPHA:3243
HP:0001155	Abnormality of the hand	5777	PTPN6	ORPHA:3243
HP:0001155	Abnormality of the hand	23389	MED13L	ORPHA:369891
HP:0001155	Abnormality of the hand	10804	GJB6	OMIM:129500
HP:0001155	Abnormality of the hand	3098	HK1	ORPHA:99953
HP:0001155	Abnormality of the hand	1001	CDH3	OMIM:601553
HP:0001155	Abnormality of the hand	10908	PNPLA6	OMIM:245800
HP:0001155	Abnormality of the hand	23111	SPART	ORPHA:101000
HP:0001155	Abnormality of the hand	652	BMP4	OMIM:607932
HP:0001155	Abnormality of the hand	51651	PTRH2	ORPHA:456312
HP:0001155	Abnormality of the hand	4297	KMT2A	ORPHA:319182
HP:0001155	Abnormality of the hand	7305	TYROBP	OMIM:221770
HP:0001155	Abnormality of the hand	4747	NEFL	ORPHA:101085
HP:0001155	Abnormality of the hand	9927	MFN2	ORPHA:99947
HP:0001155	Abnormality of the hand	54806	AHI1	ORPHA:475
HP:0001155	Abnormality of the hand	54806	AHI1	ORPHA:220493
HP:0001155	Abnormality of the hand	200894	ARL13B	ORPHA:475
HP:0001155	Abnormality of the hand	9731	CEP104	ORPHA:475
HP:0001155	Abnormality of the hand	23247	KATNIP	ORPHA:475
HP:0001155	Abnormality of the hand	95681	CEP41	ORPHA:475
HP:0001155	Abnormality of the hand	95681	CEP41	ORPHA:220493
HP:0001155	Abnormality of the hand	10464	PIBF1	ORPHA:475
HP:0001155	Abnormality of the hand	23116	TOGARAM1	ORPHA:475
HP:0001155	Abnormality of the hand	25776	CBY1	ORPHA:475
HP:0001155	Abnormality of the hand	403	ARL3	ORPHA:475
HP:0001155	Abnormality of the hand	80173	IFT74	ORPHA:475
HP:0001155	Abnormality of the hand	51	ACOX1	ORPHA:2971
HP:0001155	Abnormality of the hand	4867	NPHP1	ORPHA:220497
HP:0001155	Abnormality of the hand	8241	RBM10	ORPHA:2886
HP:0001155	Abnormality of the hand	51524	TMEM138	ORPHA:2318
HP:0001155	Abnormality of the hand	23090	ZNF423	ORPHA:2318
HP:0001155	Abnormality of the hand	9897	WASHC5	ORPHA:7
HP:0001155	Abnormality of the hand	57020	VPS35L	ORPHA:7
HP:0001155	Abnormality of the hand	5566	PRKACA	ORPHA:289
HP:0001155	Abnormality of the hand	2313	FLI1	ORPHA:2308
HP:0001155	Abnormality of the hand	6309	SC5D	ORPHA:46059
HP:0001155	Abnormality of the hand	6309	SC5D	OMIM:607330
HP:0001155	Abnormality of the hand	894	CCND2	ORPHA:83473
HP:0001155	Abnormality of the hand	894	CCND2	OMIM:615938
HP:0001155	Abnormality of the hand	5296	PIK3R2	ORPHA:83473
HP:0001155	Abnormality of the hand	10000	AKT3	ORPHA:83473
HP:0001155	Abnormality of the hand	10000	AKT3	OMIM:615937
HP:0001155	Abnormality of the hand	26160	IFT172	OMIM:615630
HP:0001155	Abnormality of the hand	26160	IFT172	ORPHA:474
HP:0001155	Abnormality of the hand	26160	IFT172	OMIM:619471
HP:0001155	Abnormality of the hand	54585	LZTFL1	OMIM:615994
HP:0001155	Abnormality of the hand	56623	INPP5E	OMIM:213300
HP:0001155	Abnormality of the hand	56623	INPP5E	ORPHA:1454
HP:0001155	Abnormality of the hand	4149	MAX	OMIM:620712
HP:0001155	Abnormality of the hand	51057	WDPCP	OMIM:217085
HP:0001155	Abnormality of the hand	3209	HOXA13	ORPHA:2438
HP:0001155	Abnormality of the hand	3209	HOXA13	OMIM:176305
HP:0001155	Abnormality of the hand	285600	KIAA0825	OMIM:618498
HP:0001155	Abnormality of the hand	26005	C2CD3	OMIM:615948
HP:0001155	Abnormality of the hand	26005	C2CD3	ORPHA:434179
HP:0001155	Abnormality of the hand	153241	CEP120	ORPHA:474
HP:0001155	Abnormality of the hand	51626	DYNC2LI1	ORPHA:474
HP:0001155	Abnormality of the hand	51626	DYNC2LI1	OMIM:617088
HP:0001155	Abnormality of the hand	9742	IFT140	ORPHA:474
HP:0001155	Abnormality of the hand	9742	IFT140	OMIM:266920
HP:0001155	Abnormality of the hand	57728	WDR19	ORPHA:474
HP:0001155	Abnormality of the hand	79809	TTC21B	ORPHA:474
HP:0001155	Abnormality of the hand	79005	SCNM1	OMIM:620107
HP:0001155	Abnormality of the hand	2736	GLI2	OMIM:610829
HP:0001155	Abnormality of the hand	80210	ARMC9	OMIM:617622
HP:0001155	Abnormality of the hand	23288	IQCE	OMIM:617642
HP:0001155	Abnormality of the hand	583	BBS2	OMIM:615981
HP:0001155	Abnormality of the hand	5567	PRKACB	OMIM:619143
HP:0001155	Abnormality of the hand	137392	CIBAR1	OMIM:618219
HP:0001155	Abnormality of the hand	7700	ZNF141	OMIM:615226
HP:0001155	Abnormality of the hand	166379	BBS12	OMIM:615989
HP:0001155	Abnormality of the hand	27241	BBS9	OMIM:615986
HP:0001155	Abnormality of the hand	157657	CFAP418	OMIM:617406
HP:0001155	Abnormality of the hand	255758	DYNLT2B	OMIM:617405
HP:0001155	Abnormality of the hand	4088	SMAD3	ORPHA:284984
HP:0001155	Abnormality of the hand	4088	SMAD3	OMIM:613795
HP:0001155	Abnormality of the hand	4088	SMAD3	ORPHA:60030
HP:0001155	Abnormality of the hand	4088	SMAD3	ORPHA:91387
HP:0001155	Abnormality of the hand	875	CBS	ORPHA:394
HP:0001155	Abnormality of the hand	875	CBS	OMIM:236200
HP:0001155	Abnormality of the hand	25970	SH2B1	ORPHA:261222
HP:0001155	Abnormality of the hand	199857	ALG14	OMIM:619036
HP:0001155	Abnormality of the hand	1075	CTSC	OMIM:245010
HP:0001155	Abnormality of the hand	1075	CTSC	ORPHA:678
HP:0001155	Abnormality of the hand	5351	PLOD1	OMIM:225400
HP:0001155	Abnormality of the hand	8076	MFAP5	OMIM:616166
HP:0001155	Abnormality of the hand	8076	MFAP5	ORPHA:91387
HP:0001155	Abnormality of the hand	2202	EFEMP1	OMIM:620780
HP:0001155	Abnormality of the hand	72	ACTG2	ORPHA:2604
HP:0001155	Abnormality of the hand	51114	ZDHHC9	ORPHA:776
HP:0001155	Abnormality of the hand	51114	ZDHHC9	OMIM:300799
HP:0001155	Abnormality of the hand	1146	CHRNG	OMIM:265000
HP:0001155	Abnormality of the hand	29920	PYCR2	ORPHA:481152
HP:0001155	Abnormality of the hand	29920	PYCR2	OMIM:616420
HP:0001155	Abnormality of the hand	1312	COMT	ORPHA:567
HP:0001155	Abnormality of the hand	221037	JMJD1C	ORPHA:567
HP:0001155	Abnormality of the hand	2812	GP1BB	ORPHA:567
HP:0001155	Abnormality of the hand	6239	RREB1	ORPHA:567
HP:0001155	Abnormality of the hand	7290	HIRA	ORPHA:567
HP:0001155	Abnormality of the hand	9632	SEC24C	ORPHA:567
HP:0001155	Abnormality of the hand	7353	UFD1	ORPHA:567
HP:0001155	Abnormality of the hand	421	ARVCF	ORPHA:567
HP:0001155	Abnormality of the hand	444	ASPH	OMIM:601552
HP:0001155	Abnormality of the hand	79576	NKAP	OMIM:301039
HP:0001155	Abnormality of the hand	25	ABL1	OMIM:617602
HP:0001155	Abnormality of the hand	23152	CIC	OMIM:617600
HP:0001155	Abnormality of the hand	649	BMP1	OMIM:614856
HP:0001155	Abnormality of the hand	165	AEBP1	ORPHA:536532
HP:0001155	Abnormality of the hand	11285	B4GALT7	ORPHA:75496
HP:0001155	Abnormality of the hand	11285	B4GALT7	OMIM:130070
HP:0001155	Abnormality of the hand	1798	DPAGT1	ORPHA:86309
HP:0001155	Abnormality of the hand	10526	IPO8	OMIM:619472
HP:0001155	Abnormality of the hand	10526	IPO8	ORPHA:60030
HP:0001155	Abnormality of the hand	490	ATP2B1	OMIM:619910
HP:0001155	Abnormality of the hand	285175	UNC80	ORPHA:371364
HP:0001155	Abnormality of the hand	4534	MTM1	OMIM:310400
HP:0001155	Abnormality of the hand	5184	PEPD	ORPHA:742
HP:0001155	Abnormality of the hand	715	C1R	OMIM:130080
HP:0001155	Abnormality of the hand	51633	OTUD6B	ORPHA:505237
HP:0001155	Abnormality of the hand	1742	DLG4	OMIM:618793
HP:0001155	Abnormality of the hand	6605	SMARCE1	OMIM:616938
HP:0001155	Abnormality of the hand	11107	PRDM5	ORPHA:90354
HP:0001155	Abnormality of the hand	84627	ZNF469	ORPHA:90354
HP:0001155	Abnormality of the hand	5727	PTCH1	ORPHA:377
HP:0001155	Abnormality of the hand	8643	PTCH2	ORPHA:377
HP:0001155	Abnormality of the hand	51684	SUFU	ORPHA:377
HP:0001155	Abnormality of the hand	4677	NARS1	OMIM:619092
HP:0001155	Abnormality of the hand	6651	SON	ORPHA:500150
HP:0001155	Abnormality of the hand	2193	FARSA	OMIM:619013
HP:0001155	Abnormality of the hand	4087	SMAD2	OMIM:619656
HP:0001155	Abnormality of the hand	4087	SMAD2	ORPHA:60030
HP:0001155	Abnormality of the hand	4087	SMAD2	ORPHA:91387
HP:0001155	Abnormality of the hand	29893	PSMC3IP	ORPHA:243
HP:0001155	Abnormality of the hand	171568	POLR3H	ORPHA:243
HP:0001155	Abnormality of the hand	2516	NR5A1	ORPHA:243
HP:0001155	Abnormality of the hand	125150	ZSWIM7	ORPHA:243
HP:0001155	Abnormality of the hand	9210	BMP15	ORPHA:243
HP:0001155	Abnormality of the hand	23514	SPIDR	ORPHA:243
HP:0001155	Abnormality of the hand	2492	FSHR	ORPHA:243
HP:0001155	Abnormality of the hand	56945	MRPS22	ORPHA:243
HP:0001155	Abnormality of the hand	646	BNC1	ORPHA:243
HP:0001155	Abnormality of the hand	4438	MSH4	ORPHA:243
HP:0001155	Abnormality of the hand	55553	SOX6	OMIM:618971
HP:0001155	Abnormality of the hand	7043	TGFB3	OMIM:615582
HP:0001155	Abnormality of the hand	7043	TGFB3	ORPHA:60030
HP:0001155	Abnormality of the hand	7043	TGFB3	ORPHA:91387
HP:0001155	Abnormality of the hand	7046	TGFBR1	ORPHA:60030
HP:0001155	Abnormality of the hand	7046	TGFBR1	OMIM:609192
HP:0001155	Abnormality of the hand	7046	TGFBR1	ORPHA:91387
HP:0001155	Abnormality of the hand	7042	TGFB2	ORPHA:60030
HP:0001155	Abnormality of the hand	7042	TGFB2	OMIM:614816
HP:0001155	Abnormality of the hand	7042	TGFB2	ORPHA:91387
HP:0001155	Abnormality of the hand	56603	CYP26B1	OMIM:614416
HP:0001155	Abnormality of the hand	4629	MYH11	ORPHA:91387
HP:0001155	Abnormality of the hand	4015	LOX	ORPHA:91387
HP:0001155	Abnormality of the hand	59	ACTA2	ORPHA:91387
HP:0001155	Abnormality of the hand	5592	PRKG1	ORPHA:91387
HP:0001155	Abnormality of the hand	2301	FOXE3	ORPHA:91387
HP:0001155	Abnormality of the hand	4144	MAT2A	ORPHA:91387
HP:0001155	Abnormality of the hand	23493	HEY2	ORPHA:91387
HP:0001155	Abnormality of the hand	4638	MYLK	ORPHA:91387
HP:0001155	Abnormality of the hand	79875	THSD4	ORPHA:91387
HP:0001155	Abnormality of the hand	23394	ADNP	ORPHA:404448
HP:0001155	Abnormality of the hand	9791	PTDSS1	ORPHA:2658
HP:0001155	Abnormality of the hand	100151683	RNU4ATAC	ORPHA:2636
HP:0001155	Abnormality of the hand	157570	ESCO2	ORPHA:2319
HP:0001155	Abnormality of the hand	4893	NRAS	OMIM:163200
HP:0001155	Abnormality of the hand	3845	KRAS	OMIM:163200
HP:0001155	Abnormality of the hand	3265	HRAS	OMIM:163200
HP:0001155	Abnormality of the hand	526	ATP6V1B2	ORPHA:79500
HP:0001155	Abnormality of the hand	57465	TBC1D24	ORPHA:79500
HP:0001155	Abnormality of the hand	207	AKT1	ORPHA:744
HP:0001155	Abnormality of the hand	6595	SMARCA2	ORPHA:3051
HP:0001155	Abnormality of the hand	9896	FIG4	ORPHA:3472
HP:0001155	Abnormality of the hand	55697	VAC14	ORPHA:3472
HP:0001155	Abnormality of the hand	23400	ATP13A2	ORPHA:306674
HP:0001155	Abnormality of the hand	64374	SIL1	ORPHA:559
HP:0001155	Abnormality of the hand	91949	COG7	ORPHA:79333
HP:0001155	Abnormality of the hand	5077	PAX3	ORPHA:896
HP:0001155	Abnormality of the hand	134218	DNAJC21	ORPHA:811
HP:0001155	Abnormality of the hand	79631	EFL1	ORPHA:811
HP:0001155	Abnormality of the hand	51119	SBDS	ORPHA:811
HP:0001155	Abnormality of the hand	6926	TBX3	ORPHA:3138
HP:0001155	Abnormality of the hand	54808	DYM	OMIM:223800
HP:0001155	Abnormality of the hand	3930	LBR	OMIM:215140
HP:0001155	Abnormality of the hand	4921	DDR2	OMIM:271665
HP:0001155	Abnormality of the hand	3549	IHH	OMIM:112500
HP:0001155	Abnormality of the hand	2245	FGD1	OMIM:305400
HP:0001155	Abnormality of the hand	2245	FGD1	ORPHA:915
HP:0001155	Abnormality of the hand	9131	AIFM1	OMIM:300232
HP:0001155	Abnormality of the hand	10743	RAI1	OMIM:182290
HP:0001155	Abnormality of the hand	10743	RAI1	ORPHA:819
HP:0001155	Abnormality of the hand	145173	B3GLCT	OMIM:261540
HP:0001155	Abnormality of the hand	23135	KDM6B	OMIM:618505
HP:0001155	Abnormality of the hand	1778	DYNC1H1	OMIM:614563
HP:0001155	Abnormality of the hand	5290	PIK3CA	ORPHA:140944
HP:0001155	Abnormality of the hand	54543	TOMM7	OMIM:620601
HP:0001155	Abnormality of the hand	4796	TONSL	ORPHA:93357
HP:0001155	Abnormality of the hand	79718	TBL1XR1	OMIM:602342
HP:0001155	Abnormality of the hand	171023	ASXL1	OMIM:605039
HP:0001155	Abnormality of the hand	5277	PIGA	OMIM:300868
HP:0001155	Abnormality of the hand	57560	IFT80	OMIM:611263
HP:0001155	Abnormality of the hand	55012	PPP2R3C	OMIM:618419
HP:0001155	Abnormality of the hand	23384	SPECC1L	OMIM:145420
HP:0001155	Abnormality of the hand	23524	SRRM2	OMIM:620439
HP:0001155	Abnormality of the hand	22907	DHX30	OMIM:617804
HP:0001155	Abnormality of the hand	10664	CTCF	OMIM:615502
HP:0001155	Abnormality of the hand	2314	FLII	ORPHA:819
HP:0001155	Abnormality of the hand	23096	IQSEC2	ORPHA:819
HP:0001155	Abnormality of the hand	10522	DEAF1	ORPHA:819
HP:0001155	Abnormality of the hand	2719	GPC3	OMIM:312870
HP:0001155	Abnormality of the hand	2239	GPC4	OMIM:312870
HP:0001155	Abnormality of the hand	2799	GNS	OMIM:252940
HP:0001155	Abnormality of the hand	55343	SLC35C1	ORPHA:99843
HP:0001155	Abnormality of the hand	81794	ADAMTS10	OMIM:277600
HP:0001155	Abnormality of the hand	64840	PORCN	OMIM:305600
HP:0001155	Abnormality of the hand	64840	PORCN	ORPHA:2092
HP:0001155	Abnormality of the hand	6910	TBX5	ORPHA:392
HP:0001155	Abnormality of the hand	4047	LSS	ORPHA:2850
HP:0001155	Abnormality of the hand	197	AHSG	ORPHA:2850
HP:0001155	Abnormality of the hand	3694	ITGB6	ORPHA:2850
HP:0001155	Abnormality of the hand	79581	SLC52A2	OMIM:614707
HP:0001155	Abnormality of the hand	411	ARSB	OMIM:253200
HP:0001155	Abnormality of the hand	56704	JPH1	OMIM:607831
HP:0001155	Abnormality of the hand	51776	MAP3K20	OMIM:616890
HP:0001155	Abnormality of the hand	1750	DLX6	ORPHA:2440
HP:0001155	Abnormality of the hand	7979	SEM1	ORPHA:2440
HP:0001155	Abnormality of the hand	8945	BTRC	ORPHA:2440
HP:0001155	Abnormality of the hand	58513	EPS15L1	ORPHA:2440
HP:0001155	Abnormality of the hand	6468	FBXW4	ORPHA:2440
HP:0001155	Abnormality of the hand	7480	WNT10B	ORPHA:2440
HP:0001155	Abnormality of the hand	7480	WNT10B	OMIM:225300
HP:0001155	Abnormality of the hand	1749	DLX5	ORPHA:2440
HP:0001155	Abnormality of the hand	1749	DLX5	OMIM:183600
HP:0001155	Abnormality of the hand	1749	DLX5	OMIM:220600
HP:0001155	Abnormality of the hand	1717	DHCR7	ORPHA:818
HP:0001155	Abnormality of the hand	79158	GNPTAB	OMIM:252500
HP:0001155	Abnormality of the hand	3516	RBPJ	ORPHA:974
HP:0001155	Abnormality of the hand	4851	NOTCH1	ORPHA:974
HP:0001155	Abnormality of the hand	57514	ARHGAP31	ORPHA:974
HP:0001155	Abnormality of the hand	57572	DOCK6	ORPHA:974
HP:0001155	Abnormality of the hand	285203	EOGT	ORPHA:974
HP:0001155	Abnormality of the hand	54567	DLL4	ORPHA:974
HP:0001155	Abnormality of the hand	8888	MCM3AP	OMIM:618124
HP:0001155	Abnormality of the hand	4359	MPZ	OMIM:118200
HP:0001155	Abnormality of the hand	4359	MPZ	OMIM:145900
HP:0001155	Abnormality of the hand	3423	IDS	OMIM:309900
HP:0001155	Abnormality of the hand	3664	IRF6	ORPHA:1300
HP:0001155	Abnormality of the hand	727857	BHLHA9	ORPHA:3329
HP:0001155	Abnormality of the hand	374969	SVBP	OMIM:618569
HP:0001155	Abnormality of the hand	3295	HSD17B4	OMIM:261515
HP:0001155	Abnormality of the hand	1509	CTSD	OMIM:610127
HP:0001155	Abnormality of the hand	64359	NXN	ORPHA:1507
HP:0001155	Abnormality of the hand	26123	TCTN3	ORPHA:2753
HP:0001155	Abnormality of the hand	2260	FGFR1	ORPHA:2117
HP:0001155	Abnormality of the hand	10397	NDRG1	ORPHA:99950
HP:0001155	Abnormality of the hand	10815	CPLX1	ORPHA:280
HP:0001155	Abnormality of the hand	10815	CPLX1	OMIM:194190
HP:0001155	Abnormality of the hand	54872	PIGG	ORPHA:280
HP:0001155	Abnormality of the hand	7469	NELFA	ORPHA:280
HP:0001155	Abnormality of the hand	1487	CTBP1	ORPHA:280
HP:0001155	Abnormality of the hand	1487	CTBP1	OMIM:194190
HP:0001155	Abnormality of the hand	3954	LETM1	ORPHA:280
HP:0001155	Abnormality of the hand	3954	LETM1	OMIM:194190
HP:0001155	Abnormality of the hand	7468	NSD2	ORPHA:280
HP:0001155	Abnormality of the hand	7468	NSD2	OMIM:194190
HP:0001155	Abnormality of the hand	53834	FGFRL1	OMIM:194190
HP:0001155	Abnormality of the hand	1959	EGR2	OMIM:145900
HP:0001155	Abnormality of the hand	57716	PRX	OMIM:145900
HP:0001155	Abnormality of the hand	10262	SF3B4	OMIM:154400
HP:0001155	Abnormality of the hand	2189	FANCG	OMIM:614082
HP:0001155	Abnormality of the hand	2189	FANCG	ORPHA:84
HP:0001155	Abnormality of the hand	80207	OPA3	ORPHA:67036
HP:0001155	Abnormality of the hand	9158	FIBP	ORPHA:500095
HP:0001155	Abnormality of the hand	8200	GDF5	ORPHA:2639
HP:0001155	Abnormality of the hand	658	BMPR1B	ORPHA:2639
HP:0001155	Abnormality of the hand	672	BRCA1	ORPHA:84
HP:0001155	Abnormality of the hand	10459	MAD2L2	ORPHA:84
HP:0001155	Abnormality of the hand	7516	XRCC2	ORPHA:84
HP:0001155	Abnormality of the hand	29089	UBE2T	ORPHA:84
HP:0001155	Abnormality of the hand	675	BRCA2	ORPHA:84
HP:0001155	Abnormality of the hand	55120	FANCL	ORPHA:84
HP:0001155	Abnormality of the hand	2177	FANCD2	ORPHA:84
HP:0001155	Abnormality of the hand	2175	FANCA	ORPHA:84
HP:0001155	Abnormality of the hand	2187	FANCB	ORPHA:84
HP:0001155	Abnormality of the hand	2176	FANCC	ORPHA:84
HP:0001155	Abnormality of the hand	2178	FANCE	ORPHA:84
HP:0001155	Abnormality of the hand	2188	FANCF	ORPHA:84
HP:0001155	Abnormality of the hand	5888	RAD51	ORPHA:84
HP:0001155	Abnormality of the hand	5889	RAD51C	ORPHA:84
HP:0001155	Abnormality of the hand	55159	RFWD3	ORPHA:84
HP:0001155	Abnormality of the hand	83990	BRIP1	ORPHA:84
HP:0001155	Abnormality of the hand	57697	FANCM	ORPHA:84
HP:0001155	Abnormality of the hand	79728	PALB2	ORPHA:84
HP:0001155	Abnormality of the hand	84464	SLX4	ORPHA:84
HP:0001155	Abnormality of the hand	2072	ERCC4	ORPHA:84
HP:0001155	Abnormality of the hand	55215	FANCI	ORPHA:84
HP:0001155	Abnormality of the hand	64093	SMOC1	ORPHA:1106
HP:0001155	Abnormality of the hand	2261	FGFR3	OMIM:620192
HP:0001155	Abnormality of the hand	2261	FGFR3	ORPHA:2363
HP:0001155	Abnormality of the hand	25942	SIN3A	ORPHA:94065
HP:0001155	Abnormality of the hand	1193	CLIC2	ORPHA:324410
HP:0001155	Abnormality of the hand	860	RUNX2	ORPHA:1452
HP:0001155	Abnormality of the hand	57167	SALL4	ORPHA:959
HP:0001155	Abnormality of the hand	2263	FGFR2	ORPHA:2363
HP:0001155	Abnormality of the hand	2255	FGF10	ORPHA:2363
HP:0001155	Abnormality of the hand	64327	LMBR1	ORPHA:93321
HP:0001155	Abnormality of the hand	6469	SHH	ORPHA:93321
HP:0001155	Abnormality of the hand	90	ACVR1	ORPHA:337
HP:0001155	Abnormality of the hand	8925	HERC1	OMIM:617011
HP:0001155	Abnormality of the hand	23512	SUZ12	OMIM:618786
HP:0001155	Abnormality of the hand	23512	SUZ12	ORPHA:3447
HP:0001155	Abnormality of the hand	3643	INSR	ORPHA:508
HP:0001155	Abnormality of the hand	3643	INSR	OMIM:246200
HP:0001155	Abnormality of the hand	5189	PEX1	ORPHA:3220
HP:0001155	Abnormality of the hand	5190	PEX6	ORPHA:3220
HP:0001155	Abnormality of the hand	85358	SHANK3	OMIM:606232
HP:0001155	Abnormality of the hand	64324	NSD1	ORPHA:821
HP:0001155	Abnormality of the hand	64324	NSD1	OMIM:117550
HP:0001155	Abnormality of the hand	64324	NSD1	ORPHA:3447
HP:0001155	Abnormality of the hand	10297	APC2	ORPHA:821
HP:0001155	Abnormality of the hand	4221	MEN1	ORPHA:99725
HP:0001155	Abnormality of the hand	9049	AIP	ORPHA:99725
HP:0001155	Abnormality of the hand	9049	AIP	ORPHA:963
HP:0001155	Abnormality of the hand	8242	KDM5C	OMIM:300534
HP:0001155	Abnormality of the hand	440	ASNS	OMIM:615574
HP:0001155	Abnormality of the hand	23133	PHF8	ORPHA:85287
HP:0001155	Abnormality of the hand	23133	PHF8	OMIM:300263
HP:0001155	Abnormality of the hand	5468	PPARG	ORPHA:528
HP:0001155	Abnormality of the hand	10555	AGPAT2	ORPHA:528
HP:0001155	Abnormality of the hand	10555	AGPAT2	OMIM:608594
HP:0001155	Abnormality of the hand	284119	CAVIN1	ORPHA:528
HP:0001155	Abnormality of the hand	2353	FOS	ORPHA:528
HP:0001155	Abnormality of the hand	83550	GPR101	ORPHA:963
HP:0001155	Abnormality of the hand	6390	SDHB	OMIM:606764
HP:0001155	Abnormality of the hand	6391	SDHC	OMIM:606764
HP:0001155	Abnormality of the hand	3815	KIT	OMIM:606764
HP:0001155	Abnormality of the hand	4763	NF1	ORPHA:363700
HP:0001155	Abnormality of the hand	4763	NF1	ORPHA:97685
HP:0001155	Abnormality of the hand	372	ARCN1	OMIM:617164
HP:0001155	Abnormality of the hand	7543	ZFX	OMIM:301118
HP:0001155	Abnormality of the hand	9935	MAFB	ORPHA:233
HP:0001155	Abnormality of the hand	1123	CHN1	ORPHA:233
HP:0001155	Abnormality of the hand	65250	CPLANE1	OMIM:277170
HP:0001155	Abnormality of the hand	6608	SMO	OMIM:601707
HP:0001155	Abnormality of the hand	6608	SMO	ORPHA:1553
HP:0001155	Abnormality of the hand	6299	SALL1	OMIM:107480
HP:0001155	Abnormality of the hand	6299	SALL1	ORPHA:857
HP:0001155	Abnormality of the hand	374879	ZNF699	OMIM:619488
HP:0001155	Abnormality of the hand	8318	CDC45	OMIM:617063
HP:0001155	Abnormality of the hand	5728	PTEN	ORPHA:210548
HP:0001155	Abnormality of the hand	220296	HEPACAM	ORPHA:210548
HP:0001155	Abnormality of the hand	51339	DACT1	ORPHA:857
HP:0001155	Abnormality of the hand	57688	ZSWIM6	OMIM:603671
HP:0001155	Abnormality of the hand	83871	RAB34	OMIM:620718
HP:0001155	Abnormality of the hand	219844	HYLS1	OMIM:236680
HP:0001155	Abnormality of the hand	2697	GJA1	ORPHA:2710
HP:0001155	Abnormality of the hand	7020	TFAP2A	OMIM:113620
HP:0001155	Abnormality of the hand	7020	TFAP2A	ORPHA:1297
HP:0001155	Abnormality of the hand	84314	TMEM107	ORPHA:564
HP:0001155	Abnormality of the hand	79867	TCTN2	ORPHA:564
HP:0001155	Abnormality of the hand	80776	B9D2	ORPHA:564
HP:0001155	Abnormality of the hand	79600	TCTN1	ORPHA:564
HP:0001155	Abnormality of the hand	57096	RPGRIP1	ORPHA:564
HP:0001155	Abnormality of the hand	79848	CSPP1	ORPHA:564
HP:0001155	Abnormality of the hand	80184	CEP290	ORPHA:564
HP:0001155	Abnormality of the hand	51259	TMEM216	ORPHA:564
HP:0001155	Abnormality of the hand	57545	CC2D2A	ORPHA:564
HP:0001155	Abnormality of the hand	79583	TMEM231	ORPHA:564
HP:0001155	Abnormality of the hand	91147	TMEM67	ORPHA:564
HP:0001155	Abnormality of the hand	79770	TXNDC15	ORPHA:564
HP:0001155	Abnormality of the hand	27077	B9D1	ORPHA:564
HP:0001155	Abnormality of the hand	23322	RPGRIP1L	ORPHA:564
HP:0001155	Abnormality of the hand	54903	MKS1	ORPHA:564
HP:0001155	Abnormality of the hand	65062	TMEM237	ORPHA:564
HP:0001155	Abnormality of the hand	2735	GLI1	OMIM:174400
HP:0001155	Abnormality of the hand	3315	HSPB1	OMIM:606595
HP:0001155	Abnormality of the hand	1802	DPH2	OMIM:620062
HP:0001155	Abnormality of the hand	27238	GPKOW	ORPHA:2570
HP:0001155	Abnormality of the hand	23141	ANKLE2	OMIM:616681
HP:0001155	Abnormality of the hand	29895	MYL11	OMIM:619110
HP:0001155	Abnormality of the hand	5393	EXOSC9	OMIM:618065
HP:0001155	Abnormality of the hand	55627	SMPD4	OMIM:618622
HP:0001155	Abnormality of the hand	6804	STX1A	ORPHA:904
HP:0001155	Abnormality of the hand	7461	CLIP2	ORPHA:904
HP:0001155	Abnormality of the hand	84277	DNAJC30	ORPHA:904
HP:0001155	Abnormality of the hand	8468	FKBP6	ORPHA:904
HP:0001155	Abnormality of the hand	5982	RFC2	ORPHA:904
HP:0001155	Abnormality of the hand	2969	GTF2I	ORPHA:904
HP:0001155	Abnormality of the hand	3984	LIMK1	ORPHA:904
HP:0001155	Abnormality of the hand	9569	GTF2IRD1	ORPHA:904
HP:0001155	Abnormality of the hand	155382	VPS37D	ORPHA:904
HP:0001155	Abnormality of the hand	155368	METTL27	ORPHA:904
HP:0001155	Abnormality of the hand	114049	BUD23	ORPHA:904
HP:0001155	Abnormality of the hand	7458	EIF4H	ORPHA:904
HP:0001155	Abnormality of the hand	84163	GTF2IRD2	ORPHA:904
HP:0001155	Abnormality of the hand	26608	TBL2	ORPHA:904
HP:0001155	Abnormality of the hand	653361	NCF1	ORPHA:904
HP:0001155	Abnormality of the hand	135886	TMEM270	ORPHA:904
HP:0001155	Abnormality of the hand	9031	BAZ1B	ORPHA:904
HP:0001155	Abnormality of the hand	2006	ELN	ORPHA:904
HP:0001155	Abnormality of the hand	2006	ELN	ORPHA:90348
HP:0001155	Abnormality of the hand	5832	ALDH18A1	OMIM:616603
HP:0001155	Abnormality of the hand	5832	ALDH18A1	OMIM:219150
HP:0001155	Abnormality of the hand	5832	ALDH18A1	ORPHA:90348
HP:0001155	Abnormality of the hand	347734	SLC35B2	OMIM:620269
HP:0001155	Abnormality of the hand	84992	PIGY	OMIM:616809
HP:0001155	Abnormality of the hand	9839	ZEB2	ORPHA:261537
HP:0001155	Abnormality of the hand	9839	ZEB2	ORPHA:261552
HP:0001155	Abnormality of the hand	91754	NEK9	OMIM:617022
HP:0001155	Abnormality of the hand	5649	RELN	ORPHA:89844
HP:0001155	Abnormality of the hand	10300	KATNB1	ORPHA:89844
HP:0001155	Abnormality of the hand	54820	NDE1	ORPHA:89844
HP:0001155	Abnormality of the hand	6472	SHMT2	OMIM:619121
HP:0001155	Abnormality of the hand	131377	KLHL40	ORPHA:171430
HP:0001155	Abnormality of the hand	10324	KLHL41	ORPHA:171430
HP:0001155	Abnormality of the hand	56203	LMOD3	ORPHA:171430
HP:0001155	Abnormality of the hand	202018	TAPT1	OMIM:616897
HP:0001155	Abnormality of the hand	2201	FBN2	OMIM:121050
HP:0001155	Abnormality of the hand	7140	TNNT3	OMIM:618435
HP:0001155	Abnormality of the hand	7140	TNNT3	ORPHA:1147
HP:0001155	Abnormality of the hand	7140	TNNT3	ORPHA:1146
HP:0001155	Abnormality of the hand	91869	RFT1	OMIM:612015
HP:0001155	Abnormality of the hand	2033	EP300	ORPHA:353284
HP:0001155	Abnormality of the hand	388015	RTL1	ORPHA:96334
HP:0001155	Abnormality of the hand	8788	DLK1	ORPHA:96334
HP:0001155	Abnormality of the hand	55384	MEG3	ORPHA:96334
HP:0001155	Abnormality of the hand	2067	ERCC1	OMIM:610758
HP:0001155	Abnormality of the hand	9179	AP4M1	OMIM:612936
HP:0001155	Abnormality of the hand	50515	CHST11	OMIM:618167
HP:0001155	Abnormality of the hand	79868	ALG13	ORPHA:324422
HP:0001155	Abnormality of the hand	259232	NALCN	OMIM:616266
HP:0001155	Abnormality of the hand	259232	NALCN	ORPHA:1147
HP:0001155	Abnormality of the hand	259232	NALCN	ORPHA:1146
HP:0001155	Abnormality of the hand	259232	NALCN	ORPHA:562528
HP:0001155	Abnormality of the hand	23483	TGDS	OMIM:616145
HP:0001155	Abnormality of the hand	729920	CRPPA	OMIM:614643
HP:0001155	Abnormality of the hand	7136	TNNI2	ORPHA:1147
HP:0001155	Abnormality of the hand	7136	TNNI2	ORPHA:1146
HP:0001155	Abnormality of the hand	10273	STUB1	ORPHA:412057
HP:0001155	Abnormality of the hand	1387	CREBBP	ORPHA:353277
HP:0001155	Abnormality of the hand	10516	FBLN5	ORPHA:90348
HP:0001155	Abnormality of the hand	81857	MED25	ORPHA:464738
HP:0001155	Abnormality of the hand	9939	RBM8A	ORPHA:3320
HP:0001155	Abnormality of the hand	9939	RBM8A	OMIM:274000
HP:0001155	Abnormality of the hand	3756	KCNH1	OMIM:611816
HP:0001155	Abnormality of the hand	3977	LIFR	OMIM:601559
HP:0001155	Abnormality of the hand	9427	ECEL1	OMIM:615065
HP:0001155	Abnormality of the hand	6999	TDO2	OMIM:600627
HP:0001155	Abnormality of the hand	84896	ATAD1	OMIM:618011
HP:0001155	Abnormality of the hand	2036	EPB41L1	OMIM:614257
HP:0001155	Abnormality of the hand	27145	FILIP1	OMIM:620775
HP:0001155	Abnormality of the hand	79693	YRDC	ORPHA:2065
HP:0001155	Abnormality of the hand	51002	TPRKB	ORPHA:2065
HP:0001155	Abnormality of the hand	55644	OSGEP	ORPHA:2065
HP:0001155	Abnormality of the hand	57122	NUP107	ORPHA:2065
HP:0001155	Abnormality of the hand	10785	WDR4	ORPHA:2065
HP:0001155	Abnormality of the hand	55746	NUP133	ORPHA:2065
HP:0001155	Abnormality of the hand	84520	GON7	ORPHA:2065
HP:0001155	Abnormality of the hand	112858	TP53RK	ORPHA:2065
HP:0001155	Abnormality of the hand	8270	LAGE3	ORPHA:2065
HP:0001155	Abnormality of the hand	26834	RNU4-2	OMIM:620851
HP:0001155	Abnormality of the hand	23019	CNOT1	OMIM:619033
HP:0001155	Abnormality of the hand	26128	KIFBP	OMIM:609460
HP:0001155	Abnormality of the hand	2972	BRF1	OMIM:616202
HP:0001155	Abnormality of the hand	2972	BRF1	ORPHA:444072
HP:0001155	Abnormality of the hand	56916	SMARCAD1	OMIM:129200
HP:0001155	Abnormality of the hand	56916	SMARCAD1	OMIM:181600
HP:0001155	Abnormality of the hand	3020	H3-3A	OMIM:619720
HP:0001155	Abnormality of the hand	55904	KMT2E	OMIM:618512
HP:0001155	Abnormality of the hand	24142	NAA80	OMIM:620830
HP:0001155	Abnormality of the hand	10978	CLP1	OMIM:615803
HP:0001155	Abnormality of the hand	55650	PIGV	OMIM:239300
HP:0001155	Abnormality of the hand	9698	PUM1	OMIM:620719
HP:0001155	Abnormality of the hand	9698	PUM1	OMIM:617931
HP:0001155	Abnormality of the hand	1889	ECE1	OMIM:613870
HP:0001155	Abnormality of the hand	9326	ZNHIT3	ORPHA:2836
HP:0001155	Abnormality of the hand	9326	ZNHIT3	OMIM:260565
HP:0001155	Abnormality of the hand	2770	GNAI1	OMIM:619854
HP:0001155	Abnormality of the hand	2626	GATA4	ORPHA:251071
HP:0001155	Abnormality of the hand	1656	DDX6	OMIM:618653
HP:0001155	Abnormality of the hand	55699	IARS2	OMIM:616007
HP:0001155	Abnormality of the hand	57282	SLC4A10	OMIM:620746
HP:0001155	Abnormality of the hand	51611	DPH5	OMIM:620070
HP:0001155	Abnormality of the hand	79813	EHMT1	ORPHA:261652
HP:0001155	Abnormality of the hand	58508	KMT2C	ORPHA:261652
HP:0001155	Abnormality of the hand	4094	MAF	ORPHA:1272
HP:0001155	Abnormality of the hand	4094	MAF	OMIM:601088
HP:0001155	Abnormality of the hand	4849	CNOT3	OMIM:618672
HP:0001155	Abnormality of the hand	6942	TCF20	OMIM:618430
HP:0001155	Abnormality of the hand	81887	LAS1L	ORPHA:3459
HP:0001155	Abnormality of the hand	81887	LAS1L	OMIM:309585
HP:0001155	Abnormality of the hand	55869	HDAC8	ORPHA:3459
HP:0001155	Abnormality of the hand	7030	TFE3	OMIM:301066
HP:0001155	Abnormality of the hand	84295	PHF6	ORPHA:127
HP:0001155	Abnormality of the hand	84295	PHF6	OMIM:301900
HP:0001155	Abnormality of the hand	55023	PHIP	ORPHA:589905
HP:0001155	Abnormality of the hand	55023	PHIP	OMIM:617991
HP:0001155	Abnormality of the hand	9230	RAB11B	OMIM:617807
HP:0001155	Abnormality of the hand	78987	CRELD1	OMIM:620771
HP:0001155	Abnormality of the hand	10075	HUWE1	OMIM:309590
HP:0001155	Abnormality of the hand	9488	PIGB	OMIM:618580
HP:0001155	Abnormality of the hand	8243	SMC1A	OMIM:301044
HP:0001155	Abnormality of the hand	23013	SPEN	OMIM:619312
HP:0001155	Abnormality of the hand	84320	ACBD6	OMIM:620785
HP:0001155	Abnormality of the hand	23028	KDM1A	OMIM:616728
HP:0001155	Abnormality of the hand	23028	KDM1A	ORPHA:477993
HP:0001155	Abnormality of the hand	5575	PRKAR1B	OMIM:619680
HP:0001155	Abnormality of the hand	6492	SIM1	ORPHA:171829
HP:0001155	Abnormality of the hand	4953	ODC1	ORPHA:544488
HP:0001155	Abnormality of the hand	998	CDC42	OMIM:616737
HP:0001155	Abnormality of the hand	998	CDC42	ORPHA:487796
HP:0001155	Abnormality of the hand	3097	HIVEP2	OMIM:616977
HP:0001155	Abnormality of the hand	56915	EXOSC5	OMIM:619576
HP:0001155	Abnormality of the hand	10588	MTHFS	OMIM:618367
HP:0001155	Abnormality of the hand	1108	CHD4	OMIM:617159
HP:0001155	Abnormality of the hand	91137	SLC25A46	OMIM:616505
HP:0001155	Abnormality of the hand	8604	SLC25A12	OMIM:612949
HP:0001155	Abnormality of the hand	2707	GJB3	ORPHA:317
HP:0001155	Abnormality of the hand	2531	KDSR	ORPHA:317
HP:0001155	Abnormality of the hand	127534	GJB4	ORPHA:317
HP:0001155	Abnormality of the hand	8812	CCNK	OMIM:618147
HP:0001155	Abnormality of the hand	9894	TELO2	ORPHA:488642
HP:0001155	Abnormality of the hand	80036	TRPM3	OMIM:620224
HP:0001155	Abnormality of the hand	8936	WASF1	OMIM:618707
HP:0001155	Abnormality of the hand	8405	SPOP	OMIM:618829
HP:0001155	Abnormality of the hand	23630	KCNE5	ORPHA:86818
HP:0001155	Abnormality of the hand	2182	ACSL4	ORPHA:86818
HP:0001155	Abnormality of the hand	9949	AMMECR1	ORPHA:86818
HP:0001155	Abnormality of the hand	11198	SUPT16H	OMIM:619480
HP:0001155	Abnormality of the hand	23067	SETD1B	OMIM:619000
HP:0001155	Abnormality of the hand	23233	EXOC6B	OMIM:618395
HP:0001155	Abnormality of the hand	5075	PAX1	OMIM:615560
HP:0001155	Abnormality of the hand	55704	CCDC88A	OMIM:617507
HP:0001155	Abnormality of the hand	1315	COPB1	OMIM:619255
HP:0001155	Abnormality of the hand	51317	PHF21A	OMIM:618725
HP:0001155	Abnormality of the hand	1968	EIF2S3	ORPHA:85282
HP:0001155	Abnormality of the hand	5557	PRIM1	OMIM:620005
HP:0001155	Abnormality of the hand	283450	HECTD4	OMIM:620250
HP:0001155	Abnormality of the hand	92344	GORAB	OMIM:231070
HP:0001155	Abnormality of the hand	387733	IFITM5	OMIM:610967
HP:0001155	Abnormality of the hand	23114	NFASC	OMIM:618356
HP:0001155	Abnormality of the hand	121340	SP7	OMIM:613849
HP:0001155	Abnormality of the hand	3187	HNRNPH1	OMIM:620083
HP:0001155	Abnormality of the hand	8506	CNTNAP1	OMIM:618186
HP:0001155	Abnormality of the hand	1020	CDK5	OMIM:616342
HP:0001155	Abnormality of the hand	56006	SMG9	OMIM:616920
HP:0001155	Abnormality of the hand	2733	GLE1	OMIM:611890
HP:0001155	Abnormality of the hand	1861	TOR1A	OMIM:618947
HP:0001155	Abnormality of the hand	55681	SCYL2	OMIM:618766
HP:0001155	Abnormality of the hand	7841	MOGS	OMIM:606056
HP:0001155	Abnormality of the hand	2581	GALC	ORPHA:206436
HP:0001155	Abnormality of the hand	5660	PSAP	ORPHA:206436
HP:0001155	Abnormality of the hand	23345	SYNE1	ORPHA:319332
HP:0001155	Abnormality of the hand	2317	FLNB	ORPHA:56305
HP:0001155	Abnormality of the hand	2898	GRIK2	OMIM:619580
HP:0001155	Abnormality of the hand	57498	KIDINS220	OMIM:619501
HP:0001155	Abnormality of the hand	80816	ASXL3	OMIM:615485
HP:0001155	Abnormality of the hand	84342	COG8	OMIM:611182
HP:0001155	Abnormality of the hand	6536	SLC6A9	OMIM:617301
HP:0001155	Abnormality of the hand	51741	WWOX	OMIM:616211
HP:0001155	Abnormality of the hand	84162	BLTP1	OMIM:617822
HP:0001155	Abnormality of the hand	667	DST	OMIM:614653
HP:0001155	Abnormality of the hand	2782	GNB1	OMIM:616973
HP:0001155	Abnormality of the hand	3897	L1CAM	ORPHA:2466
HP:0001155	Abnormality of the hand	529	ATP6V1E1	OMIM:617402
HP:0001155	Abnormality of the hand	4654	MYOD1	OMIM:618975
HP:0001155	Abnormality of the hand	54676	GTPBP2	OMIM:617988
HP:0001155	Abnormality of the hand	4137	MAPT	ORPHA:240103
HP:0001155	Abnormality of the hand	9401	RECQL4	ORPHA:1225
HP:0001155	Abnormality of the hand	51199	NIN	OMIM:614851
HP:0001155	Abnormality of the hand	51199	NIN	ORPHA:319675
HP:0001155	Abnormality of the hand	1280	COL2A1	ORPHA:85166
HP:0001155	Abnormality of the hand	6473	SHOX	ORPHA:240
HP:0001155	Abnormality of the hand	6473	SHOX	OMIM:127300
HP:0001155	Abnormality of the hand	6473	SHOX	ORPHA:2632
HP:0001155	Abnormality of the hand	4488	MSX2	OMIM:604757
HP:0001155	Abnormality of the hand	5745	PTH1R	ORPHA:79106
HP:0001155	Abnormality of the hand	3909	LAMA3	ORPHA:79404
HP:0001155	Abnormality of the hand	3918	LAMC2	ORPHA:79404
HP:0001155	Abnormality of the hand	3914	LAMB3	ORPHA:79404
HP:0001155	Abnormality of the hand	1105	CHD1	ORPHA:529965
HP:0001155	Abnormality of the hand	10269	ZMPSTE24	ORPHA:90154
HP:0001155	Abnormality of the hand	5063	PAK3	OMIM:300558
HP:0001155	Abnormality of the hand	6228	RPS23	OMIM:617412
HP:0001155	Abnormality of the hand	55628	ZNF407	OMIM:619557
HP:0001155	Abnormality of the hand	91461	PKDCC	OMIM:618821
HP:0001155	Abnormality of the hand	11133	KPTN	OMIM:615637
HP:0001155	Abnormality of the hand	253738	EBF3	ORPHA:96148
HP:0001155	Abnormality of the hand	4076	CAPRIN1	OMIM:620782
HP:0001155	Abnormality of the hand	93986	FOXP2	ORPHA:251061
HP:0001155	Abnormality of the hand	27086	FOXP1	ORPHA:391372
HP:0001155	Abnormality of the hand	3021	H3-3B	OMIM:619721
HP:0001155	Abnormality of the hand	28952	CCDC22	OMIM:300963
HP:0001155	Abnormality of the hand	83479	DDX59	OMIM:174300
HP:0001155	Abnormality of the hand	8085	KMT2D	ORPHA:2322
HP:0001155	Abnormality of the hand	8085	KMT2D	OMIM:147920
HP:0001155	Abnormality of the hand	7403	KDM6A	ORPHA:2322
HP:0001155	Abnormality of the hand	7403	KDM6A	OMIM:300867
HP:0001155	Abnormality of the hand	7403	KDM6A	OMIM:147920
HP:0001155	Abnormality of the hand	7025	NR2F1	OMIM:615722
HP:0001155	Abnormality of the hand	23065	EMC1	ORPHA:480898
HP:0001155	Abnormality of the hand	23065	EMC1	OMIM:616875
HP:0001155	Abnormality of the hand	4131	MAP1B	OMIM:618918
HP:0001155	Abnormality of the hand	57492	ARID1B	OMIM:135900
HP:0001155	Abnormality of the hand	57479	PRR12	OMIM:619539
HP:0001155	Abnormality of the hand	1822	ATN1	OMIM:618494
HP:0001155	Abnormality of the hand	23036	ZNF292	OMIM:619188
HP:0001155	Abnormality of the hand	3188	HNRNPH2	OMIM:300986
HP:0001155	Abnormality of the hand	2703	GJA8	OMIM:612474
HP:0001155	Abnormality of the hand	2702	GJA5	OMIM:612474
HP:0001155	Abnormality of the hand	8216	LZTR1	OMIM:605275
HP:0001155	Abnormality of the hand	3720	JARID2	OMIM:620098
HP:0001155	Abnormality of the hand	8720	MBTPS1	OMIM:618392
HP:0001155	Abnormality of the hand	55325	UFSP2	OMIM:617974
HP:0001155	Abnormality of the hand	7317	UBA1	ORPHA:1145
HP:0001155	Abnormality of the hand	2588	GALNS	OMIM:253000
HP:0001155	Abnormality of the hand	6138	RPL15	ORPHA:124
HP:0001155	Abnormality of the hand	6224	RPS20	ORPHA:124
HP:0001155	Abnormality of the hand	6165	RPL35A	ORPHA:124
HP:0001155	Abnormality of the hand	6132	RPL8	ORPHA:124
HP:0001155	Abnormality of the hand	6223	RPS19	ORPHA:124
HP:0001155	Abnormality of the hand	6232	RPS27	ORPHA:124
HP:0001155	Abnormality of the hand	55027	HEATR3	ORPHA:124
HP:0001155	Abnormality of the hand	6160	RPL31	ORPHA:124
HP:0001155	Abnormality of the hand	6201	RPS7	ORPHA:124
HP:0001155	Abnormality of the hand	6155	RPL27	ORPHA:124
HP:0001155	Abnormality of the hand	6234	RPS28	ORPHA:124
HP:0001155	Abnormality of the hand	6135	RPL11	ORPHA:124
HP:0001155	Abnormality of the hand	6229	RPS24	ORPHA:124
HP:0001155	Abnormality of the hand	6125	RPL5	ORPHA:124
HP:0001155	Abnormality of the hand	6204	RPS10	ORPHA:124
HP:0001155	Abnormality of the hand	2623	GATA1	ORPHA:124
HP:0001155	Abnormality of the hand	6133	RPL9	ORPHA:124
HP:0001155	Abnormality of the hand	6231	RPS26	ORPHA:124
HP:0001155	Abnormality of the hand	11224	RPL35	ORPHA:124
HP:0001155	Abnormality of the hand	6218	RPS17	ORPHA:124
HP:0001155	Abnormality of the hand	6154	RPL26	ORPHA:124
HP:0001155	Abnormality of the hand	6210	RPS15A	ORPHA:124
HP:0001155	Abnormality of the hand	90121	TSR2	ORPHA:124
HP:0001155	Abnormality of the hand	6141	RPL18	ORPHA:124
HP:0001155	Abnormality of the hand	6235	RPS29	ORPHA:124
HP:0001155	Abnormality of the hand	51816	ADA2	ORPHA:124
HP:0001155	Abnormality of the hand	1788	DNMT3A	OMIM:618724
HP:0001155	Abnormality of the hand	2720	GLB1	ORPHA:79255
HP:0001155	Abnormality of the hand	79796	ALG9	ORPHA:79328
HP:0001155	Abnormality of the hand	54928	BPNT2	OMIM:614078
HP:0001155	Abnormality of the hand	22858	CILK1	OMIM:612651
HP:0001155	Abnormality of the hand	3835	KIF22	ORPHA:93360
HP:0001155	Abnormality of the hand	4784	NFIX	OMIM:602535
HP:0001155	Abnormality of the hand	83696	TRAPPC9	OMIM:613192
HP:0001155	Abnormality of the hand	1281	COL3A1	OMIM:618343
HP:0001155	Abnormality of the hand	23162	MAPK8IP3	OMIM:618443
HP:0001155	Abnormality of the hand	113189	CHST14	ORPHA:2953
HP:0001155	Abnormality of the hand	29940	DSE	ORPHA:2953
HP:0001155	Abnormality of the hand	546	ATRX	OMIM:309580
HP:0001155	Abnormality of the hand	2186	BPTF	OMIM:617755
HP:0001155	Abnormality of the hand	8239	USP9X	ORPHA:480880
HP:0001155	Abnormality of the hand	10973	ASCC3	OMIM:620700
HP:0001155	Abnormality of the hand	284058	KANSL1	OMIM:610443
HP:0001155	Abnormality of the hand	1291	COL6A1	ORPHA:75840
HP:0001155	Abnormality of the hand	1292	COL6A2	ORPHA:75840
HP:0001155	Abnormality of the hand	1293	COL6A3	ORPHA:75840
HP:0001155	Abnormality of the hand	3955	LFNG	OMIM:609813
HP:0001155	Abnormality of the hand	10479	SLC9A6	OMIM:300243
HP:0001155	Abnormality of the hand	9578	CDC42BPB	OMIM:619841
HP:0001155	Abnormality of the hand	29998	BICRA	OMIM:619325
HP:0001155	Abnormality of the hand	10525	HYOU1	OMIM:233600
HP:0001155	Abnormality of the hand	55690	PACS1	ORPHA:329224
HP:0001155	Abnormality of the hand	2783	GNB2	OMIM:619503
HP:0001155	Abnormality of the hand	93587	TRMT10A	ORPHA:391408
HP:0001155	Abnormality of the hand	84919	PPP1R15B	ORPHA:391408
HP:0001155	Abnormality of the hand	4548	MTR	OMIM:250940
HP:0001155	Abnormality of the hand	9343	EFTUD2	OMIM:610536
HP:0001155	Abnormality of the hand	7175	TPR	OMIM:620393
HP:0001155	Abnormality of the hand	11117	EMILIN1	OMIM:620080
HP:0001155	Abnormality of the hand	9775	EIF4A3	OMIM:268305
HP:0001155	Abnormality of the hand	121512	FGD4	OMIM:609311
HP:0001155	Abnormality of the hand	1300	COL10A1	ORPHA:174
HP:0001155	Abnormality of the hand	4810	NHS	OMIM:302350
HP:0001155	Abnormality of the hand	4882	NPR2	OMIM:602875
HP:0001155	Abnormality of the hand	6197	RPS6KA3	ORPHA:192
HP:0001155	Abnormality of the hand	1499	CTNNB1	OMIM:615075
HP:0001155	Abnormality of the hand	23126	POGZ	OMIM:616364
HP:0001155	Abnormality of the hand	80204	FBXO11	OMIM:618089
HP:0001155	Abnormality of the hand	9181	ARHGEF2	OMIM:617523
HP:0001155	Abnormality of the hand	93627	TBCK	ORPHA:488632
HP:0001155	Abnormality of the hand	93627	TBCK	OMIM:616900
HP:0001155	Abnormality of the hand	3248	HPGD	ORPHA:217059
HP:0001155	Abnormality of the hand	5593	PRKG2	OMIM:619636
HP:0001155	Abnormality of the hand	6792	CDKL5	ORPHA:1934
HP:0001155	Abnormality of the hand	9091	PIGQ	ORPHA:1934
HP:0001155	Abnormality of the hand	140679	SLC32A1	ORPHA:1934
HP:0001155	Abnormality of the hand	2775	GNAO1	ORPHA:1934
HP:0001155	Abnormality of the hand	81603	TRIM8	ORPHA:1934
HP:0001155	Abnormality of the hand	2902	GRIN1	ORPHA:1934
HP:0001155	Abnormality of the hand	79751	SLC25A22	ORPHA:1934
HP:0001155	Abnormality of the hand	150094	SIK1	ORPHA:1934
HP:0001155	Abnormality of the hand	8573	CASK	ORPHA:1934
HP:0001155	Abnormality of the hand	23312	DMXL2	ORPHA:1934
HP:0001155	Abnormality of the hand	2917	GRM7	ORPHA:1934
HP:0001155	Abnormality of the hand	170302	ARX	ORPHA:1934
HP:0001155	Abnormality of the hand	11284	PNKP	ORPHA:1934
HP:0001155	Abnormality of the hand	6326	SCN2A	ORPHA:1934
HP:0001155	Abnormality of the hand	51227	PIGP	ORPHA:1934
HP:0001155	Abnormality of the hand	6324	SCN1B	ORPHA:1934
HP:0001155	Abnormality of the hand	4761	NEUROD2	ORPHA:1934
HP:0001155	Abnormality of the hand	2617	GARS1	OMIM:600794
HP:0001155	Abnormality of the hand	2617	GARS1	ORPHA:139536
HP:0001155	Abnormality of the hand	2617	GARS1	OMIM:601472
HP:0001155	Abnormality of the hand	3710	ITPR3	OMIM:620111
HP:0001155	Abnormality of the hand	3425	IDUA	OMIM:607015
HP:0001155	Abnormality of the hand	80208	SPG11	OMIM:604360
HP:0001155	Abnormality of the hand	8729	GBF1	OMIM:606483
HP:0001155	Abnormality of the hand	1308	COL17A1	ORPHA:79406
HP:0001155	Abnormality of the hand	1308	COL17A1	ORPHA:251393
HP:0001155	Abnormality of the hand	4312	MMP1	ORPHA:79408
HP:0001155	Abnormality of the hand	1294	COL7A1	ORPHA:79408
HP:0001155	Abnormality of the hand	1294	COL7A1	ORPHA:79409
HP:0001155	Abnormality of the hand	1294	COL7A1	OMIM:226600
HP:0001155	Abnormality of the hand	1294	COL7A1	ORPHA:79410
HP:0001155	Abnormality of the hand	1294	COL7A1	ORPHA:79411
HP:0001155	Abnormality of the hand	1294	COL7A1	ORPHA:89842
HP:0001155	Abnormality of the hand	1832	DSP	OMIM:609638
HP:0001155	Abnormality of the hand	3691	ITGB4	ORPHA:251393
HP:0001155	Abnormality of the hand	2137	EXTL3	OMIM:617425
HP:0001155	Abnormality of the hand	25871	NEPRO	OMIM:618853
HP:0001155	Abnormality of the hand	50964	SOST	OMIM:269500
HP:0001155	Abnormality of the hand	8481	OFD1	ORPHA:2750
HP:0001155	Abnormality of the hand	11253	MAN1B1	ORPHA:397941
HP:0001155	Abnormality of the hand	11253	MAN1B1	OMIM:614202
HP:0001155	Abnormality of the hand	340533	NEXMIF	OMIM:300912
HP:0001155	Abnormality of the hand	1139	CHRNA7	ORPHA:199318
HP:0001155	Abnormality of the hand	1139	CHRNA7	OMIM:612001
HP:0001155	Abnormality of the hand	6659	SOX4	OMIM:618506
HP:0001155	Abnormality of the hand	1947	EFNB1	ORPHA:1520
HP:0001155	Abnormality of the hand	1947	EFNB1	OMIM:304110
HP:0001155	Abnormality of the hand	4010	LMX1B	ORPHA:2614
HP:0001155	Abnormality of the hand	4010	LMX1B	OMIM:161200
HP:0001155	Abnormality of the hand	10054	UBA2	OMIM:619959
HP:0001155	Abnormality of the hand	51126	NAA20	OMIM:619717
HP:0001155	Abnormality of the hand	9820	CUL7	ORPHA:2616
HP:0001155	Abnormality of the hand	9820	CUL7	OMIM:273750
HP:0001155	Abnormality of the hand	23363	OBSL1	ORPHA:2616
HP:0001155	Abnormality of the hand	83987	CCDC8	ORPHA:2616
HP:0001155	Abnormality of the hand	83987	CCDC8	OMIM:614205
HP:0001155	Abnormality of the hand	7021	TFAP2B	OMIM:169100
HP:0001155	Abnormality of the hand	7021	TFAP2B	ORPHA:46627
HP:0001155	Abnormality of the hand	7021	TFAP2B	OMIM:617035
HP:0001155	Abnormality of the hand	5927	KDM5A	OMIM:620820
HP:0001155	Abnormality of the hand	283120	H19	ORPHA:231140
HP:0001155	Abnormality of the hand	283120	H19	ORPHA:231144
HP:0001155	Abnormality of the hand	197131	UBR1	OMIM:243800
HP:0001155	Abnormality of the hand	5932	RBBP8	OMIM:606744
HP:0001155	Abnormality of the hand	5932	RBBP8	ORPHA:808
HP:0001155	Abnormality of the hand	4286	MITF	OMIM:617306
HP:0001155	Abnormality of the hand	112752	IFT43	ORPHA:1515
HP:0001155	Abnormality of the hand	9723	SEMA3E	ORPHA:138
HP:0001155	Abnormality of the hand	3190	HNRNPK	OMIM:616580
HP:0001155	Abnormality of the hand	25885	POLR1A	OMIM:616462
HP:0001155	Abnormality of the hand	10606	PAICS	OMIM:619859
HP:0001155	Abnormality of the hand	1009	CDH11	OMIM:619736
HP:0001155	Abnormality of the hand	23327	NEDD4L	OMIM:617201
HP:0001155	Abnormality of the hand	57680	CHD8	OMIM:615032
HP:0001155	Abnormality of the hand	5048	PAFAH1B1	ORPHA:217385
HP:0001155	Abnormality of the hand	5048	PAFAH1B1	ORPHA:531
HP:0001155	Abnormality of the hand	7531	YWHAE	ORPHA:217385
HP:0001155	Abnormality of the hand	7531	YWHAE	ORPHA:531
HP:0001155	Abnormality of the hand	2550	GABBR1	OMIM:620502
HP:0001155	Abnormality of the hand	8364	H4C3	OMIM:619758
HP:0001155	Abnormality of the hand	5590	PRKCZ	ORPHA:1606
HP:0001155	Abnormality of the hand	2563	GABRD	ORPHA:1606
HP:0001155	Abnormality of the hand	8510	MMP23B	ORPHA:1606
HP:0001155	Abnormality of the hand	7798	LUZP1	ORPHA:1606
HP:0001155	Abnormality of the hand	10630	PDPN	ORPHA:1606
HP:0001155	Abnormality of the hand	10277	UBE4B	ORPHA:1606
HP:0001155	Abnormality of the hand	8514	KCNAB2	ORPHA:1606
HP:0001155	Abnormality of the hand	63976	PRDM16	ORPHA:1606
HP:0001155	Abnormality of the hand	54897	CASZ1	ORPHA:1606
HP:0001155	Abnormality of the hand	641	BLM	OMIM:210900
HP:0001155	Abnormality of the hand	10533	ATG7	OMIM:619422
HP:0001155	Abnormality of the hand	8295	TRRAP	OMIM:618454
HP:0001155	Abnormality of the hand	3479	IGF1	ORPHA:73272
HP:0001155	Abnormality of the hand	3479	IGF1	OMIM:608747
HP:0001155	Abnormality of the hand	8473	OGT	OMIM:300997
HP:0001155	Abnormality of the hand	117581	TWIST2	OMIM:200110
HP:0001155	Abnormality of the hand	117581	TWIST2	OMIM:209885
HP:0001155	Abnormality of the hand	1725	DHPS	OMIM:618480
HP:0001155	Abnormality of the hand	4052	LTBP1	OMIM:619451
HP:0001155	Abnormality of the hand	8091	HMGA2	ORPHA:94063
HP:0001155	Abnormality of the hand	8091	HMGA2	ORPHA:397590
HP:0001155	Abnormality of the hand	23592	LEMD3	ORPHA:94063
HP:0001155	Abnormality of the hand	5283	PIGH	OMIM:618010
HP:0001155	Abnormality of the hand	6874	TAF4	OMIM:620450
HP:0001155	Abnormality of the hand	50801	KCNK4	OMIM:618381
HP:0001155	Abnormality of the hand	57003	CCDC47	OMIM:618268
HP:0001155	Abnormality of the hand	5977	DPF2	OMIM:618027
HP:0001155	Abnormality of the hand	94005	PIGS	OMIM:618143
HP:0001155	Abnormality of the hand	92002	CCNQ	OMIM:300707
HP:0001155	Abnormality of the hand	92002	CCNQ	ORPHA:140952
HP:0001155	Abnormality of the hand	2887	GRB10	ORPHA:96182
HP:0001155	Abnormality of the hand	1457	CSNK2A1	OMIM:617062
HP:0001155	Abnormality of the hand	90416	CCDC32	OMIM:619123
HP:0001155	Abnormality of the hand	55717	WDR11	OMIM:620237
HP:0001155	Abnormality of the hand	22995	CEP152	OMIM:613823
HP:0001155	Abnormality of the hand	22995	CEP152	ORPHA:808
HP:0001155	Abnormality of the hand	3090	HIC1	ORPHA:531
HP:0001155	Abnormality of the hand	10436	EMG1	OMIM:211180
HP:0001155	Abnormality of the hand	10436	EMG1	ORPHA:1270
HP:0001155	Abnormality of the hand	23387	SIK3	OMIM:618162
HP:0001155	Abnormality of the hand	6016	RIT1	ORPHA:648
HP:0001155	Abnormality of the hand	6237	RRAS	ORPHA:648
HP:0001155	Abnormality of the hand	5894	RAF1	ORPHA:648
HP:0001155	Abnormality of the hand	22808	MRAS	ORPHA:648
HP:0001155	Abnormality of the hand	200734	SPRED2	ORPHA:648
HP:0001155	Abnormality of the hand	6654	SOS1	ORPHA:648
HP:0001155	Abnormality of the hand	6655	SOS2	ORPHA:648
HP:0001155	Abnormality of the hand	5922	RASA2	ORPHA:648
HP:0001155	Abnormality of the hand	79023	NUP37	OMIM:618179
HP:0001155	Abnormality of the hand	375056	MIA3	OMIM:619269
HP:0001155	Abnormality of the hand	27161	AGO2	OMIM:619149
HP:0001155	Abnormality of the hand	221927	BRAT1	OMIM:618056
HP:0001155	Abnormality of the hand	8823	FGF16	OMIM:309630
HP:0001155	Abnormality of the hand	161742	SPRED1	ORPHA:137605
HP:0001155	Abnormality of the hand	7337	UBE3A	ORPHA:238446
HP:0001155	Abnormality of the hand	3728	JUP	ORPHA:158687
HP:0001155	Abnormality of the hand	23241	PACS2	OMIM:618067
HP:0001155	Abnormality of the hand	7518	XRCC4	ORPHA:99812
HP:0001155	Abnormality of the hand	8854	ALDH1A2	OMIM:620025
HP:0001155	Abnormality of the hand	10274	STAG1	ORPHA:502434
HP:0001155	Abnormality of the hand	9184	BUB3	ORPHA:1052
HP:0001155	Abnormality of the hand	699	BUB1	ORPHA:1052
HP:0001155	Abnormality of the hand	699	BUB1	OMIM:620183
HP:0001155	Abnormality of the hand	9702	CEP57	ORPHA:1052
HP:0001155	Abnormality of the hand	9702	CEP57	OMIM:614114
HP:0001155	Abnormality of the hand	9319	TRIP13	ORPHA:1052
HP:0001155	Abnormality of the hand	701	BUB1B	ORPHA:1052
HP:0001155	Abnormality of the hand	54476	RNF216	ORPHA:1173
HP:0001155	Abnormality of the hand	3207	HOXA11	ORPHA:71289
HP:0001155	Abnormality of the hand	3207	HOXA11	OMIM:605432
HP:0001155	Abnormality of the hand	55165	CEP55	OMIM:236500
HP:0001155	Abnormality of the hand	6628	SNRPB	ORPHA:1393
HP:0001155	Abnormality of the hand	6628	SNRPB	OMIM:117650
HP:0001155	Abnormality of the hand	1028	CDKN1C	ORPHA:397590
HP:0001155	Abnormality of the hand	5324	PLAG1	ORPHA:397590
HP:0001155	Abnormality of the hand	5422	POLA1	ORPHA:163976
HP:0001155	Abnormality of the hand	5422	POLA1	OMIM:301030
HP:0001155	Abnormality of the hand	51085	MLXIPL	OMIM:194050
HP:0001155	Abnormality of the hand	10430	TMEM147	OMIM:620075
HP:0001155	Abnormality of the hand	1482	NKX2-5	OMIM:187500
HP:0001155	Abnormality of the hand	1482	NKX2-5	ORPHA:3303
HP:0001155	Abnormality of the hand	23414	ZFPM2	OMIM:187500
HP:0001155	Abnormality of the hand	23414	ZFPM2	ORPHA:3303
HP:0001155	Abnormality of the hand	2627	GATA6	OMIM:187500
HP:0001155	Abnormality of the hand	2627	GATA6	ORPHA:3303
HP:0001155	Abnormality of the hand	5116	PCNT	ORPHA:808
HP:0001155	Abnormality of the hand	5116	PCNT	OMIM:210720
HP:0001155	Abnormality of the hand	5116	PCNT	ORPHA:2637
HP:0001155	Abnormality of the hand	79902	NUP85	ORPHA:808
HP:0001155	Abnormality of the hand	84126	ATRIP	ORPHA:808
HP:0001155	Abnormality of the hand	10293	TRAIP	ORPHA:808
HP:0001155	Abnormality of the hand	1763	DNA2	ORPHA:808
HP:0001155	Abnormality of the hand	10733	PLK4	ORPHA:808
HP:0001155	Abnormality of the hand	4208	MEF2C	OMIM:613443
HP:0001155	Abnormality of the hand	129880	BBS5	OMIM:615983
HP:0001155	Abnormality of the hand	51621	KLF13	OMIM:612001
HP:0001155	Abnormality of the hand	5648	MASP1	OMIM:257920
HP:0001155	Abnormality of the hand	137814	NKX2-6	ORPHA:3303
HP:0001155	Abnormality of the hand	3791	KDR	ORPHA:3303
HP:0001155	Abnormality of the hand	2657	GDF1	ORPHA:3303
HP:0001155	Abnormality of the hand	140628	GATA5	ORPHA:3303
HP:0001155	Abnormality of the hand	2324	FLT4	ORPHA:3303
HP:0001155	Abnormality of the hand	10370	CITED2	ORPHA:3303
HP:0001155	Abnormality of the hand	2334	AFF2	ORPHA:100973
HP:0001155	Abnormality of the hand	84679	SLC9A7	OMIM:301024
HP:0001155	Abnormality of the hand	10735	STAG2	OMIM:301022
HP:0001155	Abnormality of the hand	81620	CDT1	ORPHA:2554
HP:0001155	Abnormality of the hand	5000	ORC4	ORPHA:2554
HP:0001155	Abnormality of the hand	23594	ORC6	ORPHA:2554
HP:0001155	Abnormality of the hand	990	CDC6	ORPHA:2554
HP:0001155	Abnormality of the hand	51053	GMNN	ORPHA:2554
HP:0001155	Abnormality of the hand	22931	RAB18	OMIM:614222
HP:0001155	Abnormality of the hand	54870	QRICH1	OMIM:617982
HP:0001155	Abnormality of the hand	4841	NONO	ORPHA:466791
HP:0001155	Abnormality of the hand	1663	DDX11	OMIM:613398
HP:0001155	Abnormality of the hand	4848	CNOT2	OMIM:618608
HP:0001155	Abnormality of the hand	84148	KAT8	OMIM:618974
HP:0001155	Abnormality of the hand	84068	SLC10A7	OMIM:618363
HP:0001155	Abnormality of the hand	29072	SETD2	OMIM:616831
HP:0001155	Abnormality of the hand	54187	NANS	OMIM:610442
HP:0001155	Abnormality of the hand	23169	SLC35D1	OMIM:269250
HP:0001155	Abnormality of the hand	4148	MATN3	ORPHA:93311
HP:0001155	Abnormality of the hand	5251	PHEX	OMIM:307800
HP:0001155	Abnormality of the hand	3480	IGF1R	ORPHA:73273
HP:0001155	Abnormality of the hand	22856	CHSY1	ORPHA:363417
HP:0001155	Abnormality of the hand	2879	GPX4	ORPHA:93317
HP:0001155	Abnormality of the hand	124997	WDR81	OMIM:610185
HP:0001155	Abnormality of the hand	9759	HDAC4	ORPHA:1001
HP:0001155	Abnormality of the hand	118429	ANTXR2	ORPHA:2176
HP:0001155	Abnormality of the hand	55777	MBD5	ORPHA:228402
HP:0001155	Abnormality of the hand	55777	MBD5	OMIM:156200
HP:0001155	Abnormality of the hand	100033413	SNORD116-1	OMIM:176270
HP:0001155	Abnormality of the hand	8924	HERC2	OMIM:176270
HP:0001155	Abnormality of the hand	23742	NPAP1	OMIM:176270
HP:0001155	Abnormality of the hand	338433	SNORD115-1	OMIM:176270
HP:0001155	Abnormality of the hand	54551	MAGEL2	OMIM:176270
HP:0001155	Abnormality of the hand	7681	MKRN3	OMIM:176270
HP:0001155	Abnormality of the hand	145624	PWAR1	OMIM:176270
HP:0001155	Abnormality of the hand	3653	IPW	OMIM:176270
HP:0001155	Abnormality of the hand	791114	PWRN1	OMIM:176270
HP:0001155	Abnormality of the hand	55112	DYNC2I1	ORPHA:93271
HP:0001155	Abnormality of the hand	57539	WDR35	ORPHA:93271
HP:0001155	Abnormality of the hand	79659	DYNC2H1	ORPHA:93271
HP:0001155	Abnormality of the hand	89891	DYNC2I2	ORPHA:93271
HP:0001155	Abnormality of the hand	613	BCR	ORPHA:261330
HP:0001155	Abnormality of the hand	1399	CRKL	ORPHA:261330
HP:0001155	Abnormality of the hand	5594	MAPK1	ORPHA:261330
HP:0001155	Abnormality of the hand	23030	KDM4B	OMIM:619320
HP:0001155	Abnormality of the hand	79639	TMEM53	OMIM:619727
HP:0001155	Abnormality of the hand	55249	YY1AP1	ORPHA:79094
HP:0001155	Abnormality of the hand	4750	NEK1	OMIM:252100
HP:0001155	Abnormality of the hand	6023	RMRP	ORPHA:175
HP:0001155	Abnormality of the hand	6023	RMRP	OMIM:607095
HP:0001155	Abnormality of the hand	6023	RMRP	OMIM:250250
HP:0001155	Abnormality of the hand	818	CAMK2G	OMIM:618522
HP:0001155	Abnormality of the hand	23476	BRD4	OMIM:620568
HP:0001155	Abnormality of the hand	4054	LTBP3	ORPHA:969
HP:0001155	Abnormality of the hand	3759	KCNJ2	OMIM:170390
HP:0001155	Abnormality of the hand	222663	SCUBE3	OMIM:619184
HP:0001155	Abnormality of the hand	80311	KLHL15	OMIM:300982
HP:0001155	Abnormality of the hand	10943	MSL3	OMIM:301032
HP:0001155	Abnormality of the hand	633	BGN	OMIM:300106
HP:0001155	Abnormality of the hand	1954	MEGF8	ORPHA:65759
HP:0001155	Abnormality of the hand	9244	CRLF1	OMIM:272430
HP:0001155	Abnormality of the hand	2254	FGF9	ORPHA:3237
HP:0001155	Abnormality of the hand	538	ATP7A	ORPHA:198
HP:0001155	Abnormality of the hand	6905	TBCE	OMIM:241410
HP:0001155	Abnormality of the hand	6905	TBCE	OMIM:244460
HP:0001155	Abnormality of the hand	1857	DVL3	ORPHA:3107
HP:0001155	Abnormality of the hand	7474	WNT5A	ORPHA:3107
HP:0001155	Abnormality of the hand	7474	WNT5A	OMIM:180700
HP:0001155	Abnormality of the hand	1855	DVL1	ORPHA:3107
HP:0001155	Abnormality of the hand	1855	DVL1	OMIM:180700
HP:0001155	Abnormality of the hand	2535	FZD2	ORPHA:3107
HP:0001155	Abnormality of the hand	2535	FZD2	ORPHA:93328
HP:0001155	Abnormality of the hand	132884	EVC2	OMIM:193530
HP:0001155	Abnormality of the hand	2121	EVC	OMIM:193530
HP:0001155	Abnormality of the hand	10013	HDAC6	ORPHA:163966
HP:0001155	Abnormality of the hand	79753	SNIP1	OMIM:614501
HP:0001155	Abnormality of the hand	10236	HNRNPR	OMIM:620073
HP:0001155	Abnormality of the hand	1298	COL9A2	OMIM:600204
HP:0001155	Abnormality of the hand	3636	INPPL1	OMIM:258480
HP:0001155	Abnormality of the hand	4089	SMAD4	OMIM:139210
HP:0001155	Abnormality of the hand	4089	SMAD4	ORPHA:2588
HP:0001155	Abnormality of the hand	5159	PDGFRB	OMIM:601812
HP:0001155	Abnormality of the hand	23522	KAT6B	ORPHA:85201
HP:0001155	Abnormality of the hand	28957	MRPS28	OMIM:618958
HP:0001155	Abnormality of the hand	23261	CAMTA1	OMIM:614756
HP:0001155	Abnormality of the hand	8450	CUL4B	ORPHA:85293
HP:0001155	Abnormality of the hand	25839	COG4	ORPHA:85172
HP:0001155	Abnormality of the hand	6925	TCF4	OMIM:610954
HP:0001155	Abnormality of the hand	5295	PIK3R1	ORPHA:3163
HP:0001155	Abnormality of the hand	8813	DPM1	OMIM:608799
HP:0001155	Abnormality of the hand	89970	RSPRY1	ORPHA:457395
HP:0001155	Abnormality of the hand	51322	WAC	ORPHA:466950
HP:0001155	Abnormality of the hand	29123	ANKRD11	OMIM:148050
HP:0001155	Abnormality of the hand	7227	TRPS1	OMIM:190351
HP:0001155	Abnormality of the hand	6638	SNRPN	ORPHA:177910
HP:0001155	Abnormality of the hand	4692	NDN	ORPHA:177910
HP:0001155	Abnormality of the hand	157680	VPS13B	ORPHA:193
HP:0001155	Abnormality of the hand	157680	VPS13B	OMIM:216550
HP:0001155	Abnormality of the hand	56896	DPYSL5	OMIM:619435
HP:0001155	Abnormality of the hand	89910	UBE3B	OMIM:244450
HP:0001155	Abnormality of the hand	9757	KMT2B	OMIM:619934
HP:0001155	Abnormality of the hand	579	NKX3-2	OMIM:613330
HP:0001155	Abnormality of the hand	84265	POLR3GL	OMIM:619234
HP:0001155	Abnormality of the hand	3798	KIF5A	ORPHA:100991
HP:0001155	Abnormality of the hand	92482	BBIP1	ORPHA:110
HP:0001155	Abnormality of the hand	49855	SCAPER	ORPHA:110
HP:0001155	Abnormality of the hand	132320	SCLT1	ORPHA:110
HP:0001155	Abnormality of the hand	84984	CEP19	ORPHA:110
HP:0001155	Abnormality of the hand	22954	TRIM32	ORPHA:110
HP:0001155	Abnormality of the hand	79738	BBS10	ORPHA:110
HP:0001155	Abnormality of the hand	123016	TTC8	ORPHA:110
HP:0001155	Abnormality of the hand	585	BBS4	ORPHA:110
HP:0001155	Abnormality of the hand	55212	BBS7	ORPHA:110
HP:0001155	Abnormality of the hand	10806	SDCCAG8	ORPHA:110
HP:0001155	Abnormality of the hand	55081	IFT57	OMIM:617927
HP:0001155	Abnormality of the hand	825	CAPN3	ORPHA:267
HP:0001155	Abnormality of the hand	51305	KCNK9	ORPHA:166108
HP:0001155	Abnormality of the hand	5573	PRKAR1A	ORPHA:950
HP:0001155	Abnormality of the hand	5144	PDE4D	ORPHA:950
HP:0001155	Abnormality of the hand	29957	SLC25A24	ORPHA:2095
HP:0001155	Abnormality of the hand	285590	SH3PXD2B	ORPHA:137834
HP:0001155	Abnormality of the hand	9241	NOG	ORPHA:3250
HP:0001155	Abnormality of the hand	324	APC	ORPHA:3258
HP:0001155	Abnormality of the hand	8195	MKKS	ORPHA:2473
HP:0001155	Abnormality of the hand	1186	CLCN7	ORPHA:53
HP:0001155	Abnormality of the hand	1302	COL11A2	ORPHA:166100
HP:0001155	Abnormality of the hand	4313	MMP2	ORPHA:371428
HP:0001155	Abnormality of the hand	4323	MMP14	ORPHA:371428
HP:0001155	Abnormality of the hand	2131	EXT1	ORPHA:321
HP:0001155	Abnormality of the hand	2132	EXT2	ORPHA:321
HP:0001155	Abnormality of the hand	8517	IKBKG	ORPHA:464
HP:0001155	Abnormality of the hand	1836	SLC26A2	ORPHA:93307
HP:0001155	Abnormality of the hand	9130	FAM50A	OMIM:300261
HP:0001155	Abnormality of the hand	8139	GAN	ORPHA:643
HP:0001155	Abnormality of the hand	11020	IFT27	OMIM:615996
HP:0001155	Abnormality of the hand	9365	KL	OMIM:617994
HP:0001155	Abnormality of the hand	4233	MET	OMIM:620019
HP:0001155	Abnormality of the hand	6678	SPARC	OMIM:616507
HP:0001155	Abnormality of the hand	7528	YY1	ORPHA:506358
HP:0001155	Abnormality of the hand	7528	YY1	OMIM:617557
HP:0001155	Abnormality of the hand	54681	P4HTM	OMIM:618493
HP:0001155	Abnormality of the hand	54681	P4HTM	ORPHA:436141
HP:0001155	Abnormality of the hand	128674	PROKR2	OMIM:244200
HP:0001155	Abnormality of the hand	55790	CSGALNACT1	OMIM:618870
HP:0001155	Abnormality of the hand	22861	NLRP1	OMIM:615225
HP:0001155	Abnormality of the hand	867	CBL	OMIM:613563
HP:0001155	Abnormality of the hand	1311	COMP	ORPHA:93308
HP:0001155	Abnormality of the hand	11342	RNF13	ORPHA:544503
HP:0001155	Abnormality of the hand	90459	ERI1	OMIM:620663
HP:0001155	Abnormality of the hand	5479	PPIB	OMIM:259440
HP:0001155	Abnormality of the hand	1277	COL1A1	OMIM:166200
HP:0001155	Abnormality of the hand	90952	ESAM	OMIM:620371
HP:0001155	Abnormality of the hand	3373	HYAL1	OMIM:601492
HP:0001155	Abnormality of the hand	26229	B3GAT3	OMIM:245600
HP:0001155	Abnormality of the hand	84720	PIGO	ORPHA:247262
HP:0001155	Abnormality of the hand	84720	PIGO	OMIM:614749
HP:0001155	Abnormality of the hand	93210	PGAP3	ORPHA:247262
HP:0001155	Abnormality of the hand	93210	PGAP3	OMIM:615716
HP:0001155	Abnormality of the hand	284098	PIGW	ORPHA:247262
HP:0001155	Abnormality of the hand	27315	PGAP2	ORPHA:247262
HP:0001155	Abnormality of the hand	27315	PGAP2	OMIM:614207
HP:0001155	Abnormality of the hand	29929	ALG6	ORPHA:79320
HP:0001155	Abnormality of the hand	2990	GUSB	OMIM:253220
HP:0001155	Abnormality of the hand	3376	IARS1	ORPHA:541423
HP:0001155	Abnormality of the hand	79068	FTO	OMIM:612938
HP:0001155	Abnormality of the hand	2318	FLNC	ORPHA:63273
HP:0001155	Abnormality of the hand	545	ATR	OMIM:210600
HP:0001155	Abnormality of the hand	7476	WNT7A	OMIM:228930
HP:0001155	Abnormality of the hand	3586	IL10	OMIM:180300
HP:0001155	Abnormality of the hand	6583	SLC22A4	OMIM:180300
HP:0001155	Abnormality of the hand	4261	CIITA	OMIM:180300
HP:0001155	Abnormality of the hand	51744	CD244	OMIM:180300
HP:0001155	Abnormality of the hand	4795	NFKBIL1	OMIM:180300
HP:0001155	Abnormality of the hand	56098	PCDHGC4	OMIM:619880
HP:0001155	Abnormality of the hand	26278	SACS	OMIM:270550
HP:0001155	Abnormality of the hand	23556	PIGN	ORPHA:280633
HP:0001155	Abnormality of the hand	4041	LRP5	OMIM:144750
HP:0001155	Abnormality of the hand	7994	KAT6A	OMIM:616268
HP:0001155	Abnormality of the hand	8036	SHOC2	OMIM:607721
HP:0001155	Abnormality of the hand	65082	VPS33A	ORPHA:505248
HP:0001155	Abnormality of the hand	283209	PGM2L1	OMIM:620191
HP:0001155	Abnormality of the hand	1806	DPYD	ORPHA:1675
HP:0001155	Abnormality of the hand	9987	HNRNPDL	OMIM:609115
HP:0001155	Abnormality of the hand	7466	WFS1	OMIM:222300
HP:0001155	Abnormality of the hand	54829	ASPN	OMIM:607850
HP:0001155	Abnormality of the hand	1289	COL5A1	ORPHA:287
HP:0001155	Abnormality of the hand	1290	COL5A2	ORPHA:287
HP:0001155	Abnormality of the hand	124583	CANT1	OMIM:251450
HP:0001155	Abnormality of the hand	83452	RAB33B	OMIM:615222
HP:0001155	Abnormality of the hand	8838	CCN6	ORPHA:1159
HP:0001155	Abnormality of the hand	1508	CTSB	OMIM:148370
HP:0001155	Abnormality of the hand	8710	SERPINB7	OMIM:615598
HP:0001155	Abnormality of the hand	64065	PERP	ORPHA:659
HP:0001155	Abnormality of the hand	284654	RSPO1	OMIM:610644
HP:0001155	Abnormality of the hand	1041	CDSN	OMIM:270300
HP:0001155	Abnormality of the hand	5317	PKP1	OMIM:604536
HP:0001155	Abnormality of the hand	3868	KRT16	ORPHA:2309
HP:0001155	Abnormality of the hand	3872	KRT17	ORPHA:2309
HP:0001155	Abnormality of the hand	3853	KRT6A	ORPHA:2309
HP:0001155	Abnormality of the hand	3854	KRT6B	ORPHA:2309
HP:0001155	Abnormality of the hand	5339	PLEC	ORPHA:79401
HP:0001155	Abnormality of the hand	1828	DSG1	OMIM:148700
HP:0001155	Abnormality of the hand	362	AQP5	OMIM:600231
HP:0001155	Abnormality of the hand	362	AQP5	ORPHA:2337
HP:0001155	Abnormality of the hand	145264	SERPINA12	ORPHA:86923
HP:0001155	Abnormality of the hand	54800	KLHL24	OMIM:617294
HP:0001155	Abnormality of the hand	3848	KRT1	ORPHA:79503
HP:0001155	Abnormality of the hand	2706	GJB2	ORPHA:494
HP:0001155	Abnormality of the hand	2706	GJB2	OMIM:124500
HP:0001155	Abnormality of the hand	65125	WNK1	OMIM:201300
HP:0001155	Abnormality of the hand	54463	RETREG1	OMIM:201300
HP:0001155	Abnormality of the hand	54463	RETREG1	OMIM:613115
HP:0001155	Abnormality of the hand	6335	SCN9A	OMIM:201300
HP:0001155	Abnormality of the hand	547	KIF1A	OMIM:201300
HP:0001155	Abnormality of the hand	547	KIF1A	OMIM:614213
HP:0001155	Abnormality of the hand	162514	TRPV3	OMIM:614594
HP:0001155	Abnormality of the hand	7051	TGM1	ORPHA:100976
HP:0001155	Abnormality of the hand	9517	SPTLC2	OMIM:613640
HP:0001155	Abnormality of the hand	26276	VPS33B	OMIM:620009
HP:0001155	Abnormality of the hand	4914	NTRK1	OMIM:256800
HP:0001155	Abnormality of the hand	11277	TREX1	OMIM:610448
HP:0001155	Abnormality of the hand	51062	ATL1	OMIM:613708
HP:0001155	Abnormality of the hand	23545	ATP6V0A2	OMIM:278250
HP:0001155	Abnormality of the hand	831	CAST	OMIM:616295
HP:0001155	Abnormality of the hand	5792	PTPRF	OMIM:616001
HP:0001155	Abnormality of the hand	283989	TSEN54	ORPHA:2524
HP:0001155	Abnormality of the hand	116461	TSEN15	ORPHA:2524
HP:0001155	Abnormality of the hand	79042	TSEN34	ORPHA:2524
HP:0001155	Abnormality of the hand	51091	SEPSECS	ORPHA:2524
HP:0001155	Abnormality of the hand	129563	DIS3L2	ORPHA:2849
HP:0001155	Abnormality of the hand	55670	PEX26	ORPHA:44
HP:0001155	Abnormality of the hand	5824	PEX19	ORPHA:44
HP:0001155	Abnormality of the hand	8504	PEX3	ORPHA:44
HP:0001155	Abnormality of the hand	9409	PEX16	ORPHA:44
HP:0001155	Abnormality of the hand	8799	PEX11B	ORPHA:44
HP:0001155	Abnormality of the hand	5194	PEX13	ORPHA:44
HP:0001155	Abnormality of the hand	5195	PEX14	ORPHA:44
HP:0001155	Abnormality of the hand	5192	PEX10	ORPHA:44
HP:0001155	Abnormality of the hand	23511	NUP188	OMIM:618804
HP:0001155	Abnormality of the hand	9333	TGM5	ORPHA:263534
HP:0001155	Abnormality of the hand	1475	CSTA	ORPHA:263534
HP:0001155	Abnormality of the hand	23321	TRIM2	OMIM:615490
HP:0001155	Abnormality of the hand	8878	SQSTM1	ORPHA:603
HP:0001155	Abnormality of the hand	7072	TIA1	ORPHA:603
HP:0001155	Abnormality of the hand	10558	SPTLC1	OMIM:620285
HP:0001155	Abnormality of the hand	1678	TIMM8A	OMIM:304700
HP:0001155	Abnormality of the hand	400916	CHCHD10	ORPHA:276435
HP:0001155	Abnormality of the hand	55958	KLHL9	ORPHA:399081
HP:0001155	Abnormality of the hand	3094	HINT1	ORPHA:324442
HP:0001155	Abnormality of the hand	10280	SIGMAR1	OMIM:614373
HP:0001155	Abnormality of the hand	8291	DYSF	ORPHA:178400
HP:0001155	Abnormality of the hand	7415	VCP	ORPHA:329478
HP:0001155	Abnormality of the hand	7415	VCP	OMIM:616687
HP:0001155	Abnormality of the hand	81545	FBXO38	OMIM:615575
HP:0001155	Abnormality of the hand	57863	CADM3	OMIM:619519
HP:0001155	Abnormality of the hand	4358	MPV17	OMIM:256810
HP:0001155	Abnormality of the hand	4703	NEB	ORPHA:399103
HP:0001155	Abnormality of the hand	859	CAV3	ORPHA:488650
HP:0001155	Abnormality of the hand	11155	LDB3	ORPHA:98912
HP:0001155	Abnormality of the hand	6329	SCN4A	ORPHA:98913
HP:0001155	Abnormality of the hand	1134	CHRNA1	ORPHA:98913
HP:0001155	Abnormality of the hand	4038	LRP4	ORPHA:98913
HP:0001155	Abnormality of the hand	1305	COL13A1	ORPHA:98913
HP:0001155	Abnormality of the hand	1140	CHRNB1	ORPHA:98913
HP:0001155	Abnormality of the hand	1144	CHRND	ORPHA:98913
HP:0001155	Abnormality of the hand	1145	CHRNE	ORPHA:98913
HP:0001155	Abnormality of the hand	4593	MUSK	ORPHA:98913
HP:0001155	Abnormality of the hand	5913	RAPSN	ORPHA:98913
HP:0001155	Abnormality of the hand	375790	AGRN	ORPHA:98913
HP:0001155	Abnormality of the hand	221264	AK9	ORPHA:98913
HP:0001155	Abnormality of the hand	285489	DOK7	ORPHA:98913
HP:0001155	Abnormality of the hand	4151	MB	OMIM:620286
HP:0001155	Abnormality of the hand	6786	STIM1	OMIM:160565
HP:0001155	Abnormality of the hand	10020	GNE	ORPHA:602
HP:0001155	Abnormality of the hand	4625	MYH7	OMIM:160500
HP:0001155	Abnormality of the hand	9997	SCO2	OMIM:604377
HP:0001155	Abnormality of the hand	4141	MARS1	OMIM:616280
HP:0001155	Abnormality of the hand	26580	BSCL2	ORPHA:100998
HP:0001155	Abnormality of the hand	57679	ALS2	OMIM:205100
HP:0001155	Abnormality of the hand	59341	TRPV4	OMIM:606071
HP:0001155	Abnormality of the hand	10342	TFG	OMIM:615658
HP:0001155	Abnormality of the hand	89874	SLC25A21	OMIM:618811
HP:0001155	Abnormality of the hand	170689	ADAMTS15	OMIM:620545
HP:0001155	Abnormality of the hand	1639	DCTN1	OMIM:607641
HP:0001155	Abnormality of the hand	113278	SLC52A3	OMIM:211530
HP:0001155	Abnormality of the hand	2395	FXN	ORPHA:95
HP:0001155	Abnormality of the hand	5167	ENPP1	ORPHA:51608
HP:0001155	Abnormality of the hand	368	ABCC6	ORPHA:51608
HP:0001155	Abnormality of the hand	9469	CHST3	OMIM:143095
HP:0001155	Abnormality of the hand	5518	PPP2R1A	OMIM:616362
HP:0001155	Abnormality of the hand	55315	SLC29A3	OMIM:602782
HP:0001155	Abnormality of the hand	219854	TMEM218	OMIM:619562
HP:0001155	Abnormality of the hand	79912	PYROXD1	OMIM:617258
HP:0001155	Abnormality of the hand	10093	ARPC4	OMIM:620141
HP:0001155	Abnormality of the hand	1297	COL9A1	ORPHA:166002
HP:0001155	Abnormality of the hand	1299	COL9A3	ORPHA:166002
HP:0001155	Abnormality of the hand	6597	SMARCA4	ORPHA:1465
HP:0001155	Abnormality of the hand	6597	SMARCA4	OMIM:614609
HP:0001155	Abnormality of the hand	6598	SMARCB1	ORPHA:1465
HP:0001155	Abnormality of the hand	8289	ARID1A	ORPHA:1465
HP:0001155	Abnormality of the hand	6601	SMARCC2	ORPHA:1465
HP:0001155	Abnormality of the hand	196528	ARID2	ORPHA:1465
HP:0001155	Abnormality of the hand	6664	SOX11	ORPHA:1465
HP:0001155	Abnormality of the hand	5879	RAC1	ORPHA:500159
HP:0001155	Abnormality of the hand	5286	PIK3C2A	ORPHA:557003
HP:0001155	Abnormality of the hand	1327	COX4I1	OMIM:619060
HP:0001155	Abnormality of the hand	23291	FBXW11	OMIM:618914
HP:0001155	Abnormality of the hand	10765	KDM5B	OMIM:618109
HP:0001155	Abnormality of the hand	11011	TLK2	OMIM:618050
HP:0001155	Abnormality of the hand	25836	NIPBL	OMIM:122470
HP:0001155	Abnormality of the hand	55605	KIF21A	ORPHA:45358
HP:0001155	Abnormality of the hand	347733	TUBB2B	ORPHA:45358
HP:0001155	Abnormality of the hand	7846	TUBA1A	ORPHA:45358
HP:0001155	Abnormality of the hand	401	PHOX2A	ORPHA:45358
HP:0001155	Abnormality of the hand	84570	COL25A1	ORPHA:45358
HP:0001155	Abnormality of the hand	59344	ALOXE3	OMIM:242100
HP:0001155	Abnormality of the hand	242	ALOX12B	OMIM:242100
HP:0001155	Abnormality of the hand	8820	HESX1	OMIM:182230
HP:0001155	Abnormality of the hand	8820	HESX1	ORPHA:226307
HP:0001155	Abnormality of the hand	26154	ABCA12	OMIM:242500
HP:0001155	Abnormality of the hand	7840	ALMS1	ORPHA:64
HP:0001155	Abnormality of the hand	6134	RPL10	OMIM:300998
HP:0001155	Abnormality of the hand	6134	RPL10	ORPHA:459070
HP:0001155	Abnormality of the hand	5626	PROP1	ORPHA:226307
HP:0001155	Abnormality of the hand	89884	LHX4	ORPHA:226307
HP:0001155	Abnormality of the hand	8022	LHX3	ORPHA:226307
HP:0001155	Abnormality of the hand	5449	POU1F1	ORPHA:226307
HP:0001155	Abnormality of the hand	7750	ZMYM2	OMIM:619522
HP:0001155	Abnormality of the hand	176	ACAN	OMIM:612813
HP:0001155	Abnormality of the hand	6263	RYR3	OMIM:620310
HP:0001155	Abnormality of the hand	5498	PPOX	OMIM:620483
HP:0001155	Abnormality of the hand	1513	CTSK	ORPHA:763
HP:0001155	Abnormality of the hand	84823	LMNB2	OMIM:619180
HP:0001155	Abnormality of the hand	164	AP1G1	OMIM:619467
HP:0001155	Abnormality of the hand	5130	PCYT1A	OMIM:608940
HP:0001155	Abnormality of the hand	2778	GNAS	OMIM:103580
HP:0001155	Abnormality of the hand	2019	EN1	OMIM:619218
HP:0001155	Abnormality of the hand	84231	TRAF7	OMIM:618164
HP:0001155	Abnormality of the hand	50945	TBX22	ORPHA:921
HP:0001155	Abnormality of the hand	10225	CD96	OMIM:211750
HP:0001155	Abnormality of the hand	9382	COG1	OMIM:611209
HP:0001155	Abnormality of the hand	389827	MYMK	ORPHA:1358
HP:0001155	Abnormality of the hand	101929726	MYMX	ORPHA:1358
HP:0001155	Abnormality of the hand	84100	ARL6	OMIM:209900
HP:0001155	Abnormality of the hand	79140	CCDC28B	OMIM:209900
HP:0001155	Abnormality of the hand	582	BBS1	OMIM:209900
HP:0001155	Abnormality of the hand	55764	IFT122	OMIM:218330
HP:0001155	Abnormality of the hand	65267	WNK3	OMIM:309610
HP:0001155	Abnormality of the hand	673	BRAF	OMIM:163950
HP:0001155	Abnormality of the hand	5604	MAP2K1	OMIM:163950
HP:0001155	Abnormality of the hand	5781	PTPN11	OMIM:163950
HP:0001155	Abnormality of the hand	6909	TBX2	OMIM:618223
HP:0001155	Abnormality of the hand	2074	ERCC6	OMIM:214150
HP:0001155	Abnormality of the hand	1718	DHCR24	OMIM:602398
HP:0001155	Abnormality of the hand	10466	COG5	ORPHA:263487
HP:0001155	Abnormality of the hand	54880	BCOR	OMIM:309800
HP:0001155	Abnormality of the hand	8260	NAA10	OMIM:309800
HP:0001155	Abnormality of the hand	2737	GLI3	OMIM:175700
HP:0001155	Abnormality of the hand	9231	DLG5	OMIM:620703
HP:0001155	Abnormality of the hand	84942	WDR73	OMIM:251300
HP:0001155	Abnormality of the hand	9719	ADAMTSL2	OMIM:231050
HP:0001155	Abnormality of the hand	5830	PEX5	OMIM:214110
HP:0001155	Abnormality of the hand	4952	OCRL	OMIM:309000
HP:0001155	Abnormality of the hand	1235	CCR6	ORPHA:220402
HP:0001155	Abnormality of the hand	79932	KIAA0319L	ORPHA:220402
HP:0001155	Abnormality of the hand	1490	CCN2	ORPHA:220402
HP:0001155	Abnormality of the hand	3663	IRF5	ORPHA:220402
HP:0001155	Abnormality of the hand	857	CAV1	ORPHA:220402
HP:0001155	Abnormality of the hand	3123	HLA-DRB1	ORPHA:220402
HP:0001155	Abnormality of the hand	1303	COL12A1	ORPHA:536516
HP:0001155	Abnormality of the hand	91179	SCARF2	OMIM:600920
HP:0001155	Abnormality of the hand	51715	RAB23	OMIM:201000
HP:0001155	Abnormality of the hand	113179	ADAT3	ORPHA:363528
HP:0001155	Abnormality of the hand	4920	ROR2	OMIM:113000
HP:0001155	Abnormality of the hand	22880	MORC2	ORPHA:466768
HP:0001155	Abnormality of the hand	58	ACTA1	OMIM:620278
HP:0001155	Abnormality of the hand	9968	MED12	OMIM:305450
HP:0001155	Abnormality of the hand	9215	LARGE1	OMIM:608840
HP:0001155	Abnormality of the hand	2273	FHL1	OMIM:300280
HP:0001155	Abnormality of the hand	126792	B3GALT6	OMIM:271640
HP:0001155	Abnormality of the hand	126792	B3GALT6	OMIM:615349
HP:0001155	Abnormality of the hand	7169	TPM2	OMIM:108120
HP:0001155	Abnormality of the hand	139285	AMER1	OMIM:300373
HP:0001155	Abnormality of the hand	8626	TP63	OMIM:603543
HP:0001155	Abnormality of the hand	63895	PIEZO2	OMIM:248700
HP:0001155	Abnormality of the hand	6497	SKI	OMIM:182212
HP:0001155	Abnormality of the hand	10084	PQBP1	OMIM:309500
HP:0001155	Abnormality of the hand	4621	MYH3	OMIM:193700
HP:0001155	Abnormality of the hand	7390	UROS	OMIM:263700
HP:0001155	Abnormality of the hand	4998	ORC1	OMIM:224690
HP:0001155	Abnormality of the hand	10381	TUBB3	OMIM:600638
HP:0001155	Abnormality of the hand	1272	CNTN1	OMIM:612540
HP:0001155	Abnormality of the hand	9487	PIGL	OMIM:280000
HP:0001155	Abnormality of the hand	3572	IL6ST	OMIM:618523
HP:0001155	Abnormality of the hand	2146	EZH2	OMIM:277590
HP:0001155	Abnormality of the hand	7048	TGFBR2	OMIM:610168
HP:0001155	Abnormality of the hand	57211	ADGRG6	OMIM:616503
HP:0001155	Abnormality of the hand	2316	FLNA	ORPHA:1826
HP:0001155	Abnormality of the hand	6885	MAP3K7	ORPHA:1826
HP:0001155	Abnormality of the hand	3339	HSPG2	OMIM:255800
HP:0001155	Abnormality of the hand	147372	CCBE1	OMIM:235510
HP:0001155	Abnormality of the hand	10195	ALG3	OMIM:601110
HP:0001155	Abnormality of the hand	257	ALX3	OMIM:136760
HP:0001155	Abnormality of the hand	3239	HOXD13	OMIM:186300
HP:0001155	Abnormality of the hand	6913	TBX15	OMIM:260660
HP:0001155	Abnormality of the hand	26053	AUTS2	ORPHA:352490
HP:0001155	Abnormality of the hand	1301	COL11A1	OMIM:228520
HP:0001155	Abnormality of the hand	91252	SLC39A13	OMIM:612350
HP:0001155	Abnormality of the hand	4604	MYBPC1	OMIM:614335
HP:0001155	Abnormality of the hand	57449	PLEKHG5	OMIM:611067
HP:0001155	Abnormality of the hand	3178	HNRNPA1	OMIM:610099
HP:0001155	Abnormality of the hand	54332	GDAP1	ORPHA:99948
HP:0001155	Abnormality of the hand	5376	PMP22	ORPHA:90658
HP:0001155	Abnormality of the hand	28982	FLVCR1	OMIM:609033
HP:0001155	Abnormality of the hand	26227	PHGDH	OMIM:256520
HP:0001155	Abnormality of the hand	55131	RBM28	ORPHA:157954
HP:0001155	Abnormality of the hand	55131	RBM28	OMIM:612079
HP:0001155	Abnormality of the hand	3911	LAMA5	OMIM:620076
HP:0001155	Abnormality of the hand	3981	LIG4	ORPHA:235
HP:0001155	Abnormality of the hand	54888	NSUN2	ORPHA:235
HP:0001155	Abnormality of the hand	5980	REV3L	ORPHA:570
HP:0001155	Abnormality of the hand	23129	PLXND1	ORPHA:570
HP:0001155	Abnormality of the hand	5925	RB1	ORPHA:1587
HP:0001155	Abnormality of the hand	80144	FRAS1	OMIM:219000
HP:0001155	Abnormality of the hand	5053	PAH	ORPHA:2209
HP:0001155	Abnormality of the hand	55280	CWF19L1	ORPHA:453521
HP:0001155	Abnormality of the hand	9361	LONP1	OMIM:600373
HP:0001155	Abnormality of the hand	58499	ZNF462	ORPHA:502430
HP:0001155	Abnormality of the hand	58499	ZNF462	OMIM:618619
HP:0001155	Abnormality of the hand	22800	RRAS2	OMIM:618624
HP:0001155	Abnormality of the hand	7547	ZIC3	OMIM:314390
HP:0001155	Abnormality of the hand	8314	BAP1	OMIM:619762
HP:0001155	Abnormality of the hand	118924	FRA10AC1	OMIM:620113
HP:0001155	Abnormality of the hand	9419	CRIPT	OMIM:615789
HP:0001155	Abnormality of the hand	4247	MGAT2	OMIM:212066
HP:0001155	Abnormality of the hand	64682	ANAPC1	ORPHA:221008
HP:0001155	Abnormality of the hand	6938	TCF12	ORPHA:35099
HP:0001155	Abnormality of the hand	7545	ZIC1	ORPHA:35099
HP:0001155	Abnormality of the hand	85301	COL27A1	OMIM:615155
HP:0001155	Abnormality of the hand	2192	FBLN1	OMIM:608180
HP:0001155	Abnormality of the hand	64135	IFIH1	OMIM:182250
HP:0001155	Abnormality of the hand	10651	MTX2	OMIM:619127
HP:0001155	Abnormality of the hand	23586	RIGI	OMIM:616298
HP:0001155	Abnormality of the hand	25923	ATL3	OMIM:615632
HP:0001155	Abnormality of the hand	4853	NOTCH2	OMIM:102500
HP:0001155	Abnormality of the hand	4626	MYH8	ORPHA:3377
HP:0001155	Abnormality of the hand	340419	RSPO2	OMIM:618022
HP:0001155	Abnormality of the hand	8452	CUL3	OMIM:619239
HP:0001155	Abnormality of the hand	5718	PSMD12	OMIM:617516
HP:0001155	Abnormality of the hand	54101	RIPK4	OMIM:263650
HP:0001155	Abnormality of the hand	54101	RIPK4	ORPHA:1234
HP:0001155	Abnormality of the hand	29980	DONSON	OMIM:251230
HP:0001155	Abnormality of the hand	1723	DHODH	OMIM:263750
HP:0001155	Abnormality of the hand	4613	MYCN	OMIM:164280
HP:0001155	Abnormality of the hand	4613	MYCN	ORPHA:391641
HP:0001155	Abnormality of the hand	407975	MIR17HG	ORPHA:391646
HP:0001155	Abnormality of the hand	4256	MGP	OMIM:245150
HP:0001155	Abnormality of the hand	170691	ADAMTS17	ORPHA:3449
HP:0001155	Abnormality of the hand	4053	LTBP2	ORPHA:3449
HP:0001155	Abnormality of the hand	26100	WIPI2	OMIM:618453
HP:0001155	Abnormality of the hand	3590	IL11RA	OMIM:614188
HP:0001155	Abnormality of the hand	55733	HHAT	OMIM:600092
HP:0001155	Abnormality of the hand	55733	HHAT	ORPHA:1422
HP:0001155	Abnormality of the hand	5139	PDE3A	ORPHA:1276
HP:0001155	Abnormality of the hand	5139	PDE3A	OMIM:112410
HP:0001155	Abnormality of the hand	6662	SOX9	OMIM:114290
HP:0001155	Abnormality of the hand	3417	IDH1	ORPHA:99646
HP:0001155	Abnormality of the hand	1807	DPYS	OMIM:222748
HP:0001155	Abnormality of the hand	9509	ADAMTS2	OMIM:225410
HP:0001155	Abnormality of the hand	9555	MACROH2A1	ORPHA:1275
HP:0001155	Abnormality of the hand	5307	PITX1	ORPHA:1275
HP:0001155	Abnormality of the hand	9653	HS2ST1	OMIM:619194
HP:0001155	Abnormality of the hand	55209	SETD5	ORPHA:404440
HP:0001155	Abnormality of the hand	55209	SETD5	OMIM:615761
HP:0001155	Abnormality of the hand	8815	BANF1	OMIM:614008
HP:0001155	Abnormality of the hand	5293	PIK3CD	ORPHA:221139
HP:0001155	Abnormality of the hand	90417	KNSTRN	ORPHA:221139
HP:0001155	Abnormality of the hand	10617	STAMBP	OMIM:614261
HP:0001155	Abnormality of the hand	2335	FN1	ORPHA:93315
HP:0001155	Abnormality of the hand	51412	ACTL6B	OMIM:618470
HP:0001155	Abnormality of the hand	5744	PTHLH	ORPHA:93387
HP:0001155	Abnormality of the hand	3764	KCNJ8	ORPHA:1517
HP:0001155	Abnormality of the hand	10060	ABCC9	ORPHA:1517
HP:0001155	Abnormality of the hand	24140	FTSJ1	OMIM:309549
HP:0001155	Abnormality of the hand	54496	PRMT7	OMIM:617157
HP:0001155	Abnormality of the hand	2475	MTOR	OMIM:616638
HP:0001155	Abnormality of the hand	54	ACP5	ORPHA:1855
HP:0001155	Abnormality of the hand	5281	PIGF	OMIM:619356
HP:0001155	Abnormality of the hand	2677	GGCX	OMIM:277450
HP:0001155	Abnormality of the hand	10283	CWC27	OMIM:250410
HP:0001155	Abnormality of the hand	415	ARSL	ORPHA:79345
HP:0001155	Abnormality of the hand	415	ARSL	OMIM:302950
HP:0001155	Abnormality of the hand	26137	ZBTB20	OMIM:259050
HP:0001155	Abnormality of the hand	60401	EDA2R	ORPHA:181
HP:0001155	Abnormality of the hand	1896	EDA	ORPHA:181
HP:0001155	Abnormality of the hand	6711	SPTBN1	OMIM:619475
HP:0001155	Abnormality of the hand	71	ACTG1	ORPHA:2995
HP:0001155	Abnormality of the hand	60	ACTB	ORPHA:2995
HP:0001155	Abnormality of the hand	10992	SF3B2	OMIM:164210
HP:0001155	Abnormality of the hand	9786	KIAA0586	ORPHA:397715
HP:0001155	Abnormality of the hand	6091	ROBO1	OMIM:620305
HP:0001155	Abnormality of the hand	6736	SRY	ORPHA:1772
HP:0001155	Abnormality of the hand	8642	DCHS1	OMIM:601390
HP:0001155	Abnormality of the hand	26224	FBXL3	OMIM:606220
HP:0001155	Abnormality of the hand	114803	MYSM1	ORPHA:508542
HP:0001155	Abnormality of the hand	149775	GNAS-AS1	OMIM:603233
HP:0001155	Abnormality of the hand	8675	STX16	OMIM:603233
HP:0001155	Abnormality of the hand	10686	CLDN16	OMIM:248250
HP:0001155	Abnormality of the hand	64175	P3H1	OMIM:610915
HP:0001155	Abnormality of the hand	55252	ASXL2	OMIM:617190
HP:0001155	Abnormality of the hand	5264	PHYH	ORPHA:773
HP:0001155	Abnormality of the hand	5191	PEX7	ORPHA:773
HP:0001155	Abnormality of the hand	56992	KIF15	ORPHA:261323
HP:0001155	Abnormality of the hand	9451	EIF2AK3	OMIM:226980
HP:0001155	Abnormality of the hand	1161	ERCC8	OMIM:216400
HP:0001155	Abnormality of the hand	29926	GMPPA	ORPHA:869
HP:0001155	Abnormality of the hand	60684	TRAPPC11	ORPHA:869
HP:0001155	Abnormality of the hand	8086	AAAS	ORPHA:869
HP:0001155	Abnormality of the hand	22884	WDR37	OMIM:618652
HP:0001155	Abnormality of the hand	80347	COASY	OMIM:618266
HP:0001155	Abnormality of the hand	54809	SAMD9	OMIM:617053
HP:0001155	Abnormality of the hand	348180	CTU2	OMIM:618142
HP:0001155	Abnormality of the hand	256297	PTF1A	OMIM:609069
HP:0001155	Abnormality of the hand	55593	OTUD5	OMIM:301056
HP:0001155	Abnormality of the hand	129285	PPP1R21	OMIM:619383
HP:0001155	Abnormality of the hand	8567	MADD	OMIM:619004
HP:0001155	Abnormality of the hand	5297	PI4KA	OMIM:616531
HP:0001155	Abnormality of the hand	5297	PI4KA	OMIM:619708
HP:0001155	Abnormality of the hand	8985	PLOD3	OMIM:612394
HP:0001155	Abnormality of the hand	5591	PRKDC	OMIM:615966
HP:0001155	Abnormality of the hand	2122	MECOM	OMIM:616738
HP:0001155	Abnormality of the hand	26040	SETBP1	ORPHA:798
HP:0001155	Abnormality of the hand	488	ATP2A2	ORPHA:218
HP:0001155	Abnormality of the hand	488	ATP2A2	OMIM:124200
HP:0001155	Abnormality of the hand	10519	CIB1	OMIM:618267
HP:0001155	Abnormality of the hand	9321	TRIP11	OMIM:200600
HP:0001155	Abnormality of the hand	55906	ZC4H2	OMIM:314580
HP:0001155	Abnormality of the hand	80326	WNT10A	OMIM:150400
HP:0001155	Abnormality of the hand	81607	NECTIN4	OMIM:613573
HP:0001155	Abnormality of the hand	3857	KRT9	ORPHA:2199
HP:0001155	Abnormality of the hand	3857	KRT9	OMIM:144200
HP:0001155	Abnormality of the hand	10847	SRCAP	ORPHA:2044
HP:0001155	Abnormality of the hand	10847	SRCAP	OMIM:136140
HP:0001155	Abnormality of the hand	81031	SLC2A10	ORPHA:3342
HP:0001155	Abnormality of the hand	65109	UPF3B	OMIM:300676
HP:0001155	Abnormality of the hand	6477	SIAH1	OMIM:619314
HP:0001155	Abnormality of the hand	10059	DNM1L	OMIM:614388
HP:0001155	Abnormality of the hand	650	BMP2	ORPHA:261295
HP:0001155	Abnormality of the hand	473	RERE	OMIM:616975
HP:0001155	Abnormality of the hand	51132	RLIM	OMIM:300978
HP:0001155	Abnormality of the hand	92579	G6PC3	OMIM:612541
HP:0001155	Abnormality of the hand	4212	MEIS2	OMIM:600987
HP:0001155	Abnormality of the hand	285362	SUMF1	OMIM:272200
HP:0001155	Abnormality of the hand	285362	SUMF1	ORPHA:585
HP:0001155	Abnormality of the hand	79759	ZNF668	OMIM:620194
HP:0001155	Abnormality of the hand	284252	KCTD1	OMIM:181270
HP:0001155	Abnormality of the hand	4123	MAN2C1	OMIM:619775
HP:0001155	Abnormality of the hand	60529	ALX4	ORPHA:60015
HP:0001155	Abnormality of the hand	79989	IFT56	OMIM:619534
HP:0001155	Abnormality of the hand	23404	EXOSC2	OMIM:617763
HP:0001155	Abnormality of the hand	5587	PRKD1	OMIM:617364
HP:0001155	Abnormality of the hand	865	CBFB	OMIM:620099
HP:0001155	Abnormality of the hand	10216	PRG4	OMIM:208250
HP:0001155	Abnormality of the hand	654	BMP6	ORPHA:465508
HP:0001155	Abnormality of the hand	3077	HFE	ORPHA:465508
HP:0001155	Abnormality of the hand	6840	SVIL	OMIM:619040
HP:0001155	Abnormality of the hand	342035	GLDN	OMIM:617194
HP:0001155	Abnormality of the hand	3861	KRT14	ORPHA:69087
HP:0001155	Abnormality of the hand	57190	SELENON	ORPHA:2020
HP:0001155	Abnormality of the hand	4633	MYL2	ORPHA:2020
HP:0001155	Abnormality of the hand	3679	ITGA7	ORPHA:2020
HP:0001155	Abnormality of the hand	9200	HACD1	ORPHA:2020
HP:0001155	Abnormality of the hand	7170	TPM3	ORPHA:2020
HP:0001155	Abnormality of the hand	1859	DYRK1A	ORPHA:464311
HP:0001155	Abnormality of the hand	203859	ANO5	ORPHA:206549
HP:0001155	Abnormality of the hand	6399	TRAPPC2	ORPHA:93284
HP:0001155	Abnormality of the hand	5696	PSMB8	OMIM:256040
HP:0001155	Abnormality of the hand	5692	PSMB4	OMIM:617591
HP:0001155	Abnormality of the hand	23299	BICD2	ORPHA:363454
HP:0001155	Abnormality of the hand	65055	REEP1	ORPHA:101011
HP:0001155	Abnormality of the hand	8988	HSPB3	OMIM:613376
HP:0001155	Abnormality of the hand	9782	MATR3	OMIM:606070
HP:0001155	Abnormality of the hand	57104	PNPLA2	ORPHA:98908
HP:0001155	Abnormality of the hand	5165	PDK3	OMIM:300905
HP:0001155	Abnormality of the hand	81846	SBF2	ORPHA:99956
HP:0001155	Abnormality of the hand	7084	TK2	ORPHA:254886
HP:0001155	Abnormality of the hand	2705	GJB1	OMIM:302800
HP:0001155	Abnormality of the hand	2992	GYG1	OMIM:616199
HP:0001155	Abnormality of the hand	3035	HARS1	ORPHA:488333
HP:0001155	Abnormality of the hand	8292	COLQ	ORPHA:98915
HP:0001155	Abnormality of the hand	3913	LAMB2	ORPHA:98915
HP:0001155	Abnormality of the hand	10073	SNUPN	OMIM:620793
HP:0001155	Abnormality of the hand	8565	YARS1	OMIM:608323
HP:0001155	Abnormality of the hand	2077	ERF	OMIM:617180
HP:0001155	Abnormality of the hand	4883	NPR3	OMIM:619543
HP:0001155	Abnormality of the hand	3043	HBB	ORPHA:232
HP:0001155	Abnormality of the hand	374654	KIF7	ORPHA:166024
HP:0001155	Abnormality of the hand	51098	IFT52	OMIM:617102
HP:0001155	Abnormality of the hand	5965	RECQL	OMIM:620370
HP:0001155	Abnormality of the hand	128	ADH5	OMIM:619151
HP:0001155	Abnormality of the hand	3782	KCNN3	OMIM:618658
HP:0001155	Abnormality of the hand	10625	IVNS1ABP	OMIM:618969
HP:0001155	Abnormality of the hand	920	CD4	OMIM:619238
HP:0001155	Abnormality of the hand	126410	CYP4F22	OMIM:604777
HP:0001155	Abnormality of the hand	126695	KDF1	OMIM:617337
HP:0001155	Abnormality of the hand	412	STS	OMIM:308100
HP:0001155	Abnormality of the hand	204219	CERS3	OMIM:615023
HP:0001155	Abnormality of the hand	2312	FLG	OMIM:146700
HP:0001155	Abnormality of the hand	64423	INF2	OMIM:614455
HP:0001155	Abnormality of the hand	8566	PDXK	OMIM:618511
HP:0001155	Abnormality of the hand	4000	LMNA	OMIM:181350
HP:0001155	Abnormality of the hand	4000	LMNA	OMIM:212112
HP:0001155	Abnormality of the hand	84572	GNPTG	OMIM:252605
HP:0001155	Abnormality of the hand	9150	CTDP1	ORPHA:48431
HP:0001155	Abnormality of the hand	9898	UBAP2L	OMIM:620494
HP:0001155	Abnormality of the hand	8092	ALX1	ORPHA:306542
HP:0001155	Abnormality of the hand	150468	CKAP2L	OMIM:272440
HP:0001155	Abnormality of the hand	10210	TOPORS	ORPHA:2754
HP:0001155	Abnormality of the hand	9851	KIAA0753	ORPHA:2754
HP:0001155	Abnormality of the hand	5147	PDE6D	ORPHA:2754
HP:0001155	Abnormality of the hand	317662	FAM149B1	ORPHA:2754
HP:0001155	Abnormality of the hand	55784	MCTP2	ORPHA:1596
HP:0001155	Abnormality of the hand	1747	DLX3	ORPHA:3352
HP:0001155	Abnormality of the hand	1974	EIF4A2	OMIM:620455
HP:0001155	Abnormality of the hand	3767	KCNJ11	ORPHA:79134
HP:0001155	Abnormality of the hand	79731	NARS2	ORPHA:79134
HP:0001155	Abnormality of the hand	6833	ABCC8	ORPHA:79134
HP:0001155	Abnormality of the hand	2218	FKTN	ORPHA:272
HP:0001155	Abnormality of the hand	8294	H4C9	OMIM:619951
HP:0001155	Abnormality of the hand	54968	TMEM70	ORPHA:1194
HP:0001155	Abnormality of the hand	84466	MEGF10	OMIM:614399
HP:0001155	Abnormality of the hand	3508	IGHMBP2	OMIM:604320
HP:0001155	Abnormality of the hand	64127	NOD2	OMIM:186580
HP:0001155	Abnormality of the hand	64127	NOD2	ORPHA:90340
HP:0001155	Abnormality of the hand	9508	ADAMTS3	ORPHA:2136
HP:0001155	Abnormality of the hand	79633	FAT4	ORPHA:2136
HP:0001155	Abnormality of the hand	55612	FERMT1	ORPHA:2908
HP:0001155	Abnormality of the hand	23102	TBC1D2B	OMIM:619323
HP:0001155	Abnormality of the hand	2068	ERCC2	OMIM:610756
HP:0001155	Abnormality of the hand	2068	ERCC2	ORPHA:1466
HP:0001155	Abnormality of the hand	2073	ERCC5	ORPHA:1466
HP:0001155	Abnormality of the hand	134701	RIPPLY2	ORPHA:2311
HP:0001155	Abnormality of the hand	10683	DLL3	ORPHA:2311
HP:0001155	Abnormality of the hand	84667	HES7	ORPHA:2311
HP:0001155	Abnormality of the hand	145873	MESP2	ORPHA:2311
HP:0001155	Abnormality of the hand	4927	NUP88	ORPHA:994
HP:0001155	Abnormality of the hand	6572	SLC18A3	ORPHA:994
HP:0001155	Abnormality of the hand	23443	SLC35A3	OMIM:615553
HP:0001155	Abnormality of the hand	25914	RTTN	ORPHA:468631
HP:0001155	Abnormality of the hand	26092	TOR1AIP1	OMIM:617072
HP:0001155	Abnormality of the hand	23529	CLCF1	ORPHA:1545
HP:0001155	Abnormality of the hand	1080	CFTR	OMIM:219700
HP:0001155	Abnormality of the hand	2212	FCGR2A	OMIM:219700
HP:0001155	Abnormality of the hand	7040	TGFB1	OMIM:219700
HP:0001155	Abnormality of the hand	3071	NCKAP1L	OMIM:618982
HP:0001155	Abnormality of the hand	114548	NLRP3	OMIM:191900
HP:0001155	Abnormality of the hand	182	JAG1	OMIM:619574
HP:0001155	Abnormality of the hand	7015	TERT	OMIM:614742
HP:0001155	Abnormality of the hand	7015	TERT	ORPHA:2032
HP:0001155	Abnormality of the hand	7015	TERT	OMIM:178500
HP:0001155	Abnormality of the hand	6794	STK11	OMIM:175200
HP:0001155	Abnormality of the hand	987	LRBA	OMIM:614700
HP:0001155	Abnormality of the hand	6578	SLCO2A1	OMIM:167100
HP:0001155	Abnormality of the hand	6440	SFTPC	ORPHA:2032
HP:0001155	Abnormality of the hand	6440	SFTPC	OMIM:178500
HP:0001155	Abnormality of the hand	729238	SFTPA2	ORPHA:2032
HP:0001155	Abnormality of the hand	729238	SFTPA2	OMIM:178500
HP:0001155	Abnormality of the hand	79991	STN1	ORPHA:2032
HP:0001155	Abnormality of the hand	653509	SFTPA1	ORPHA:2032
HP:0001155	Abnormality of the hand	21	ABCA3	ORPHA:2032
HP:0001155	Abnormality of the hand	727897	MUC5B	ORPHA:2032
HP:0001155	Abnormality of the hand	727897	MUC5B	OMIM:178500
HP:0001155	Abnormality of the hand	10144	FAM13A	ORPHA:2032
HP:0001155	Abnormality of the hand	23250	ATP11A	ORPHA:2032
HP:0001155	Abnormality of the hand	91039	DPP9	ORPHA:2032
HP:0001155	Abnormality of the hand	51750	RTEL1	ORPHA:2032
HP:0001155	Abnormality of the hand	7012	TERC	ORPHA:2032
HP:0001155	Abnormality of the hand	5073	PARN	ORPHA:2032
HP:0001155	Abnormality of the hand	440275	EIF2AK4	ORPHA:199241
HP:0001155	Abnormality of the hand	1604	CD55	OMIM:226300
HP:0001155	Abnormality of the hand	10568	SLC34A2	ORPHA:60025
HP:0001155	Abnormality of the hand	8884	SLC5A6	OMIM:618973
HP:0001155	Abnormality of the hand	10125	RASGRP1	OMIM:618534
HP:0001155	Abnormality of the hand	59067	IL21	OMIM:615767
HP:0001155	Abnormality of the hand	657	BMPR1A	ORPHA:79076
HP:0001155	Abnormality of the hand	27152	INTU	OMIM:617926
HP:0001155	Abnormality of the hand	7092	TLL1	ORPHA:99106
HP:0001155	Abnormality of the hand	64132	XYLT2	OMIM:605822
HP:0001155	Abnormality of the hand	10682	EBP	ORPHA:401973
HP:0001155	Abnormality of the hand	10682	EBP	OMIM:300960
HP:0001155	Abnormality of the hand	274	BIN1	ORPHA:169186
HP:0001155	Abnormality of the hand	10290	SPEG	ORPHA:169186
HP:0001155	Abnormality of the hand	6261	RYR1	ORPHA:169186
HP:0001155	Abnormality of the hand	7273	TTN	ORPHA:169186
HP:0001155	Abnormality of the hand	57459	GATAD2B	OMIM:615074
HP:0001155	Abnormality of the hand	57459	GATAD2B	ORPHA:363686
HP:0001155	Abnormality of the hand	8367	H4C5	OMIM:619950
HP:0001155	Abnormality of the hand	1182	CLCN3	OMIM:619512
HP:0001155	Abnormality of the hand	9853	RUSC2	OMIM:617773
HP:0001155	Abnormality of the hand	6660	SOX5	OMIM:616803
HP:0001155	Abnormality of the hand	51520	LARS1	OMIM:615438
HP:0001155	Abnormality of the hand	54499	TMCO1	OMIM:213980
HP:0001155	Abnormality of the hand	11128	POLR3A	OMIM:264090
HP:0001155	Abnormality of the hand	11128	POLR3A	ORPHA:3455
HP:0001155	Abnormality of the hand	2200	FBN1	ORPHA:284979
HP:0001155	Abnormality of the hand	2200	FBN1	OMIM:616914
HP:0001155	Abnormality of the hand	50814	NSDHL	ORPHA:251383
HP:0001155	Abnormality of the hand	116931	MED12L	OMIM:618872
HP:0001155	Abnormality of the hand	203068	TUBB	OMIM:156610
HP:0001155	Abnormality of the hand	60676	PAPPA2	OMIM:619489
HP:0001155	Abnormality of the hand	1278	COL1A2	ORPHA:230851
HP:0001155	Abnormality of the hand	2624	GATA2	OMIM:614038
HP:0001155	Abnormality of the hand	9373	PLAA	ORPHA:521426
HP:0001155	Abnormality of the hand	9373	PLAA	OMIM:617527
HP:0001155	Abnormality of the hand	30008	EFEMP2	OMIM:614437
HP:0001155	Abnormality of the hand	9772	TMEM94	OMIM:618316
HP:0001155	Abnormality of the hand	7291	TWIST1	OMIM:617746
HP:0001155	Abnormality of the hand	10982	MAPRE2	OMIM:616734
HP:0001155	Abnormality of the hand	79971	WLS	OMIM:619648
HP:0001155	Abnormality of the hand	2556	GABRA3	OMIM:301091
HP:0001155	Abnormality of the hand	1376	CPT2	OMIM:608836
HP:0001155	Abnormality of the hand	5373	PMM2	ORPHA:79318
HP:0001155	Abnormality of the hand	63035	BCORL1	OMIM:301029
HP:0001155	Abnormality of the hand	10265	IRX5	OMIM:611174
HP:0001155	Abnormality of the hand	6709	SPTAN1	OMIM:620528
HP:0001155	Abnormality of the hand	6611	SMS	OMIM:309583
HP:0001155	Abnormality of the hand	79087	ALG12	ORPHA:79324
HP:0001155	Abnormality of the hand	1795	DOCK3	OMIM:618292
HP:0001155	Abnormality of the hand	7703	PCGF2	OMIM:618371
HP:0001155	Abnormality of the hand	9496	TBX4	ORPHA:261279
HP:0001155	Abnormality of the hand	8726	EED	OMIM:617561
HP:0001155	Abnormality of the hand	57178	ZMIZ1	OMIM:618659
HP:0001155	Abnormality of the hand	92949	ADAMTSL1	ORPHA:521445
HP:0001155	Abnormality of the hand	4929	NR4A2	ORPHA:1617
HP:0001155	Abnormality of the hand	10716	TBR1	ORPHA:1617
HP:0001155	Abnormality of the hand	64864	RFX7	OMIM:620330
HP:0001155	Abnormality of the hand	9990	SLC12A6	OMIM:218000
HP:0001155	Abnormality of the hand	94	ACVRL1	OMIM:600376
HP:0001155	Abnormality of the hand	54345	SOX18	ORPHA:69735
HP:0001155	Abnormality of the hand	54345	SOX18	OMIM:607823
HP:0001155	Abnormality of the hand	2859	GPR35	ORPHA:171
HP:0001155	Abnormality of the hand	10507	SEMA4D	ORPHA:171
HP:0001155	Abnormality of the hand	4485	MST1	ORPHA:171
HP:0001155	Abnormality of the hand	55768	NGLY1	ORPHA:404454
HP:0001155	Abnormality of the hand	781	CACNA2D1	OMIM:620149
HP:0001155	Abnormality of the hand	123263	MTFMT	OMIM:614947
HP:0001155	Abnormality of the hand	27125	AFF4	ORPHA:444077
HP:0001155	Abnormality of the hand	22854	NTNG1	ORPHA:3095
HP:0001155	Abnormality of the hand	9568	GABBR2	ORPHA:3095
HP:0001155	Abnormality of the hand	9568	GABBR2	OMIM:617903
HP:0001155	Abnormality of the hand	4204	MECP2	ORPHA:3095
HP:0001155	Abnormality of the hand	4204	MECP2	OMIM:300055
HP:0001155	Abnormality of the hand	1062	CENPE	OMIM:616051
HP:0001155	Abnormality of the hand	9126	SMC3	OMIM:610759
HP:0001155	Abnormality of the hand	9126	SMC3	ORPHA:199
HP:0001155	Abnormality of the hand	4948	OCA2	ORPHA:177904
HP:0001155	Abnormality of the hand	4948	OCA2	ORPHA:177901
HP:0001155	Abnormality of the hand	4948	OCA2	ORPHA:98754
HP:0001155	Abnormality of the hand	2590	GALNT2	OMIM:618885
HP:0001155	Abnormality of the hand	3064	HTT	OMIM:617435
HP:0001155	Abnormality of the hand	1147	CHUK	OMIM:619339
HP:0001155	Abnormality of the hand	6045	RNF2	OMIM:619460
HP:0001155	Abnormality of the hand	1501	CTNND2	ORPHA:281
HP:0001155	Abnormality of the hand	9037	SEMA5A	ORPHA:281
HP:0001155	Abnormality of the hand	6304	SATB1	OMIM:619229
HP:0001155	Abnormality of the hand	6602	SMARCD1	OMIM:618779
HP:0001155	Abnormality of the hand	6878	TAF6	ORPHA:199
HP:0001155	Abnormality of the hand	5885	RAD21	ORPHA:199
HP:0001155	Abnormality of the hand	7874	USP7	ORPHA:500055
HP:0001155	Abnormality of the hand	8493	PPM1D	OMIM:617450
HP:0001155	Abnormality of the hand	8558	CDK10	OMIM:617694
HP:0001155	Abnormality of the hand	3481	IGF2	OMIM:616489
HP:0001155	Abnormality of the hand	80232	WDR26	OMIM:617616
HP:0001155	Abnormality of the hand	7486	WRN	ORPHA:902
HP:0001155	Abnormality of the hand	3800	KIF5C	OMIM:615282
HP:0001155	Abnormality of the hand	2332	FMR1	ORPHA:261483
HP:0001155	Abnormality of the hand	388662	SLC6A17	OMIM:616269
HP:0001155	Abnormality of the hand	23219	FBXO28	OMIM:619777
HP:0001155	Abnormality of the hand	64131	XYLT1	ORPHA:1425
HP:0001155	Abnormality of the hand	406932	MIR140	OMIM:618618
HP:0001155	Abnormality of the hand	25886	POC1A	OMIM:614813
HP:0001155	Abnormality of the hand	1801	DPH1	ORPHA:459061
HP:0001155	Abnormality of the hand	3762	KCNJ5	ORPHA:37553
HP:0001155	Abnormality of the hand	84181	CHD6	ORPHA:2108
HP:0002600	Hyporeflexia of lower limbs	3475	IFRD1	ORPHA:98771
HP:0002600	Hyporeflexia of lower limbs	23299	BICD2	OMIM:615290
HP:0002600	Hyporeflexia of lower limbs	23769	FLRT1	ORPHA:320406
HP:0002600	Hyporeflexia of lower limbs	64837	KLC2	ORPHA:320406
HP:0002600	Hyporeflexia of lower limbs	3315	HSPB1	OMIM:608634
HP:0002600	Hyporeflexia of lower limbs	4099	MAG	OMIM:616680
HP:0002600	Hyporeflexia of lower limbs	122622	ADSS1	OMIM:617030
HP:0002600	Hyporeflexia of lower limbs	25923	ATL3	OMIM:615632
HP:0002600	Hyporeflexia of lower limbs	6709	SPTAN1	OMIM:620528
HP:0002600	Hyporeflexia of lower limbs	2318	FLNC	ORPHA:63273
HP:0002600	Hyporeflexia of lower limbs	9499	MYOT	OMIM:609200
HP:0002600	Hyporeflexia of lower limbs	5582	PRKCG	ORPHA:98763
HP:0002600	Hyporeflexia of lower limbs	10159	ATP6AP2	ORPHA:93952
HP:0002600	Hyporeflexia of lower limbs	8139	GAN	OMIM:256850
HP:0002600	Hyporeflexia of lower limbs	1674	DES	OMIM:601419
HP:0002600	Hyporeflexia of lower limbs	9517	SPTLC2	OMIM:613640
HP:0002600	Hyporeflexia of lower limbs	5376	PMP22	ORPHA:90658
HP:0002600	Hyporeflexia of lower limbs	22868	FASTKD2	OMIM:618855
HP:0002600	Hyporeflexia of lower limbs	4000	LMNA	ORPHA:98855
HP:0002600	Hyporeflexia of lower limbs	26353	HSPB8	OMIM:158590
HP:0002600	Hyporeflexia of lower limbs	9711	RUBCN	OMIM:615705
HP:0002600	Hyporeflexia of lower limbs	6786	STIM1	OMIM:160565
HP:0002600	Hyporeflexia of lower limbs	11155	LDB3	OMIM:609452
HP:0002600	Hyporeflexia of lower limbs	10908	PNPLA6	OMIM:215470
HP:0002600	Hyporeflexia of lower limbs	55149	MTPAP	OMIM:613672
HP:0002600	Hyporeflexia of lower limbs	81545	FBXO38	OMIM:615575
HP:0002600	Hyporeflexia of lower limbs	4358	MPV17	OMIM:256810
HP:0002600	Hyporeflexia of lower limbs	8291	DYSF	OMIM:254130
HP:0002600	Hyporeflexia of lower limbs	200205	IBA57	ORPHA:468661
HP:0002600	Hyporeflexia of lower limbs	54332	GDAP1	ORPHA:99948
HP:0002600	Hyporeflexia of lower limbs	5165	PDK3	OMIM:300905
HP:0002600	Hyporeflexia of lower limbs	1410	CRYAB	OMIM:608810
HP:0002600	Hyporeflexia of lower limbs	65055	REEP1	OMIM:614751
HP:0002600	Hyporeflexia of lower limbs	79784	MYH14	OMIM:614369
HP:0002600	Hyporeflexia of lower limbs	3032	HADHB	ORPHA:746
HP:0002600	Hyporeflexia of lower limbs	3030	HADHA	ORPHA:746
HP:0002600	Hyporeflexia of lower limbs	10516	FBLN5	OMIM:608895
HP:0002600	Hyporeflexia of lower limbs	1778	DYNC1H1	OMIM:158600
HP:0002600	Hyporeflexia of lower limbs	10079	ATP9A	OMIM:620242
HP:0002601	Paresis of extensor muscles of the big toe	2643	GCH1	ORPHA:98808
HP:0002601	Paresis of extensor muscles of the big toe	4929	NR4A2	ORPHA:98808
HP:0002601	Paresis of extensor muscles of the big toe	3615	IMPDH2	ORPHA:98808
HP:0002601	Paresis of extensor muscles of the big toe	3315	HSPB1	OMIM:608634
HP:0002601	Paresis of extensor muscles of the big toe	26353	HSPB8	OMIM:158590
HP:0002601	Paresis of extensor muscles of the big toe	9927	MFN2	ORPHA:99947
HP:0007334	Bilateral tonic-clonic seizure with focal onset	6584	SLC22A5	ORPHA:158
HP:0007334	Bilateral tonic-clonic seizure with focal onset	2903	GRIN2A	OMIM:245570
HP:0007334	Bilateral tonic-clonic seizure with focal onset	2903	GRIN2A	ORPHA:163721
HP:0007334	Bilateral tonic-clonic seizure with focal onset	2903	GRIN2A	ORPHA:1945
HP:0007334	Bilateral tonic-clonic seizure with focal onset	23241	PACS2	OMIM:618067
HP:0007334	Bilateral tonic-clonic seizure with focal onset	57468	SLC12A5	OMIM:616645
HP:0007334	Bilateral tonic-clonic seizure with focal onset	57468	SLC12A5	ORPHA:293181
HP:0007334	Bilateral tonic-clonic seizure with focal onset	27286	SRPX2	ORPHA:163721
HP:0007334	Bilateral tonic-clonic seizure with focal onset	27286	SRPX2	ORPHA:1945
HP:0007334	Bilateral tonic-clonic seizure with focal onset	23334	SZT2	OMIM:615476
HP:0007334	Bilateral tonic-clonic seizure with focal onset	53616	ADAM22	OMIM:617933
HP:0007334	Bilateral tonic-clonic seizure with focal onset	123263	MTFMT	OMIM:614947
HP:0007334	Bilateral tonic-clonic seizure with focal onset	527	ATP6V0C	OMIM:620465
HP:0007334	Bilateral tonic-clonic seizure with focal onset	6326	SCN2A	ORPHA:293181
HP:0007334	Bilateral tonic-clonic seizure with focal onset	6326	SCN2A	ORPHA:306
HP:0007334	Bilateral tonic-clonic seizure with focal onset	6326	SCN2A	OMIM:607745
HP:0007334	Bilateral tonic-clonic seizure with focal onset	6326	SCN2A	OMIM:613721
HP:0007334	Bilateral tonic-clonic seizure with focal onset	23236	PLCB1	ORPHA:293181
HP:0007334	Bilateral tonic-clonic seizure with focal onset	3785	KCNQ2	ORPHA:293181
HP:0007334	Bilateral tonic-clonic seizure with focal onset	3785	KCNQ2	ORPHA:306
HP:0007334	Bilateral tonic-clonic seizure with focal onset	57582	KCNT1	ORPHA:293181
HP:0007334	Bilateral tonic-clonic seizure with focal onset	5277	PIGA	ORPHA:293181
HP:0007334	Bilateral tonic-clonic seizure with focal onset	6323	SCN1A	ORPHA:293181
HP:0007334	Bilateral tonic-clonic seizure with focal onset	79751	SLC25A22	ORPHA:293181
HP:0007334	Bilateral tonic-clonic seizure with focal onset	57465	TBC1D24	ORPHA:293181
HP:0007334	Bilateral tonic-clonic seizure with focal onset	6334	SCN8A	ORPHA:306
HP:0007334	Bilateral tonic-clonic seizure with focal onset	6334	SCN8A	OMIM:614558
HP:0007334	Bilateral tonic-clonic seizure with focal onset	112476	PRRT2	ORPHA:306
HP:0007334	Bilateral tonic-clonic seizure with focal onset	3786	KCNQ3	ORPHA:306
HP:0007334	Bilateral tonic-clonic seizure with focal onset	8496	PPFIBP1	OMIM:620024
HP:0007334	Bilateral tonic-clonic seizure with focal onset	378884	NHLRC1	ORPHA:501
HP:0007334	Bilateral tonic-clonic seizure with focal onset	7957	EPM2A	ORPHA:501
HP:0007334	Bilateral tonic-clonic seizure with focal onset	7957	EPM2A	OMIM:254780
HP:0007334	Bilateral tonic-clonic seizure with focal onset	26047	CNTNAP2	ORPHA:163681
HP:0007334	Bilateral tonic-clonic seizure with focal onset	26047	CNTNAP2	OMIM:610042
HP:0007334	Bilateral tonic-clonic seizure with focal onset	5428	POLG	ORPHA:254881
HP:0007334	Bilateral tonic-clonic seizure with focal onset	5515	PPP2CA	OMIM:618354
HP:0007334	Bilateral tonic-clonic seizure with focal onset	387119	CEP85L	OMIM:618873
HP:0007334	Bilateral tonic-clonic seizure with focal onset	51124	IER3IP1	OMIM:614231
HP:0007334	Bilateral tonic-clonic seizure with focal onset	51741	WWOX	OMIM:616211
HP:0007334	Bilateral tonic-clonic seizure with focal onset	3745	KCNB1	OMIM:616056
HP:0007334	Bilateral tonic-clonic seizure with focal onset	10991	SLC38A3	OMIM:619881
HP:0007334	Bilateral tonic-clonic seizure with focal onset	9896	FIG4	OMIM:612691
HP:0007334	Bilateral tonic-clonic seizure with focal onset	477	ATP1A2	OMIM:619605
HP:0007334	Bilateral tonic-clonic seizure with focal onset	23031	MAST3	OMIM:620115
HP:0007334	Bilateral tonic-clonic seizure with focal onset	154881	KCTD7	OMIM:611726
HP:0007334	Bilateral tonic-clonic seizure with focal onset	9211	LGI1	OMIM:600512
HP:0007334	Bilateral tonic-clonic seizure with focal onset	9211	LGI1	ORPHA:101046
HP:0007334	Bilateral tonic-clonic seizure with focal onset	5649	RELN	OMIM:600512
HP:0007334	Bilateral tonic-clonic seizure with focal onset	5649	RELN	ORPHA:101046
HP:0007334	Bilateral tonic-clonic seizure with focal onset	64780	MICAL1	OMIM:600512
HP:0007334	Bilateral tonic-clonic seizure with focal onset	51083	GAL	OMIM:616461
HP:0007334	Bilateral tonic-clonic seizure with focal onset	93627	TBCK	OMIM:616900
HP:0007334	Bilateral tonic-clonic seizure with focal onset	2566	GABRG2	ORPHA:1945
HP:0007334	Bilateral tonic-clonic seizure with focal onset	83480	PUS3	ORPHA:488627
HP:0007334	Bilateral tonic-clonic seizure with focal onset	6812	STXBP1	ORPHA:599373
HP:0007334	Bilateral tonic-clonic seizure with focal onset	9681	DEPDC5	ORPHA:101046
HP:0007334	Bilateral tonic-clonic seizure with focal onset	79813	EHMT1	OMIM:610253
HP:0007334	Bilateral tonic-clonic seizure with focal onset	27133	KCNH5	OMIM:620537
HP:0007334	Bilateral tonic-clonic seizure with focal onset	3778	KCNMA1	OMIM:617643
HP:0007334	Bilateral tonic-clonic seizure with focal onset	57107	PDSS2	OMIM:614652
HP:0007334	Bilateral tonic-clonic seizure with focal onset	3767	KCNJ11	OMIM:618856
HP:0007334	Bilateral tonic-clonic seizure with focal onset	81603	TRIM8	OMIM:619428
HP:0007334	Bilateral tonic-clonic seizure with focal onset	5660	PSAP	OMIM:610539
HP:0007334	Bilateral tonic-clonic seizure with focal onset	8085	KMT2D	OMIM:147920
HP:0007334	Bilateral tonic-clonic seizure with focal onset	7403	KDM6A	OMIM:147920
HP:0002375	Hypokinesia	9131	AIFM1	ORPHA:238329
HP:0002375	Hypokinesia	9131	AIFM1	OMIM:300816
HP:0002375	Hypokinesia	291	SLC25A4	ORPHA:254892
HP:0002375	Hypokinesia	5428	POLG	ORPHA:254892
HP:0002375	Hypokinesia	56652	TWNK	ORPHA:254892
HP:0002375	Hypokinesia	11232	POLG2	ORPHA:254892
HP:0002375	Hypokinesia	50484	RRM2B	ORPHA:254892
HP:0002375	Hypokinesia	55605	KIF21A	ORPHA:994
HP:0002375	Hypokinesia	4927	NUP88	ORPHA:994
HP:0002375	Hypokinesia	7846	TUBA1A	ORPHA:994
HP:0002375	Hypokinesia	4654	MYOD1	ORPHA:994
HP:0002375	Hypokinesia	54551	MAGEL2	ORPHA:994
HP:0002375	Hypokinesia	4593	MUSK	ORPHA:994
HP:0002375	Hypokinesia	5913	RAPSN	ORPHA:994
HP:0002375	Hypokinesia	6572	SLC18A3	ORPHA:994
HP:0002375	Hypokinesia	285489	DOK7	ORPHA:994
HP:0002375	Hypokinesia	3064	HTT	ORPHA:399
HP:0002375	Hypokinesia	6515	SLC2A3	ORPHA:399
HP:0002375	Hypokinesia	4359	MPZ	OMIM:618184
HP:0002375	Hypokinesia	7054	TH	OMIM:605407
HP:0002375	Hypokinesia	7054	TH	ORPHA:101150
HP:0002375	Hypokinesia	5071	PRKN	OMIM:600116
HP:0002375	Hypokinesia	3920	LAMP2	OMIM:300257
HP:0002375	Hypokinesia	23732	FRRS1L	OMIM:616981
HP:0002375	Hypokinesia	23516	SLC39A14	OMIM:617013
HP:0002375	Hypokinesia	1213	CLTC	OMIM:617854
HP:0002375	Hypokinesia	8622	PDE8B	OMIM:609161
HP:0002375	Hypokinesia	85476	GFM1	OMIM:609060
HP:0002375	Hypokinesia	203190	LGI3	OMIM:620007
HP:0002375	Hypokinesia	9256	TSPOAP1	ORPHA:101150
HP:0002375	Hypokinesia	4534	MTM1	OMIM:310400
HP:0002375	Hypokinesia	2629	GBA1	OMIM:608013
HP:0002375	Hypokinesia	79581	SLC52A2	OMIM:614707
HP:0002375	Hypokinesia	23400	ATP13A2	OMIM:606693
HP:0002375	Hypokinesia	100303755	PET117	OMIM:619063
HP:0002375	Hypokinesia	5521	PPP2R2B	ORPHA:98762
HP:0002375	Hypokinesia	6531	SLC6A3	ORPHA:238455
HP:0002375	Hypokinesia	58	ACTA1	ORPHA:171436
HP:0002375	Hypokinesia	58	ACTA1	ORPHA:171433
HP:0002375	Hypokinesia	58	ACTA1	ORPHA:171430
HP:0002375	Hypokinesia	7169	TPM2	ORPHA:171436
HP:0002375	Hypokinesia	4703	NEB	ORPHA:171436
HP:0002375	Hypokinesia	4703	NEB	ORPHA:171433
HP:0002375	Hypokinesia	4703	NEB	ORPHA:171430
HP:0002375	Hypokinesia	10324	KLHL41	ORPHA:171436
HP:0002375	Hypokinesia	10324	KLHL41	ORPHA:171433
HP:0002375	Hypokinesia	10324	KLHL41	ORPHA:171430
HP:0002375	Hypokinesia	56203	LMOD3	ORPHA:171436
HP:0002375	Hypokinesia	56203	LMOD3	ORPHA:171430
HP:0002375	Hypokinesia	1073	CFL2	ORPHA:171436
HP:0002375	Hypokinesia	8818	DPM2	OMIM:615042
HP:0002375	Hypokinesia	440138	ALG11	ORPHA:280071
HP:0002375	Hypokinesia	7170	TPM3	ORPHA:171433
HP:0002375	Hypokinesia	5621	PRNP	ORPHA:157941
HP:0002375	Hypokinesia	51741	WWOX	OMIM:616211
HP:0002375	Hypokinesia	131377	KLHL40	ORPHA:171430
HP:0002375	Hypokinesia	1644	DDC	ORPHA:35708
HP:0002375	Hypokinesia	51025	PAM16	OMIM:613320
HP:0002375	Hypokinesia	10243	GPHN	OMIM:149400
HP:0002375	Hypokinesia	2741	GLRA1	OMIM:149400
HP:0002375	Hypokinesia	51021	MRPS16	OMIM:610498
HP:0002375	Hypokinesia	6622	SNCA	OMIM:168601
HP:0002375	Hypokinesia	540	ATP7B	OMIM:277900
HP:0002375	Hypokinesia	3908	LAMA2	ORPHA:258
HP:0002604	Gastrointestinal telangiectasia	80169	CTC1	OMIM:612199
HP:0002604	Gastrointestinal telangiectasia	94	ACVRL1	OMIM:600376
HP:0002604	Gastrointestinal telangiectasia	2022	ENG	OMIM:187300
HP:0002605	Hepatic necrosis	4358	MPV17	OMIM:256810
HP:0002605	Hepatic necrosis	37	ACADVL	OMIM:201475
HP:0002605	Hepatic necrosis	374354	NHLRC2	OMIM:618278
HP:0002605	Hepatic necrosis	1716	DGUOK	OMIM:251880
HP:0002605	Hepatic necrosis	3033	HADH	OMIM:231530
HP:0002605	Hepatic necrosis	3033	HADH	ORPHA:71212
HP:0002605	Hepatic necrosis	4233	MET	ORPHA:33402
HP:0002605	Hepatic necrosis	1499	CTNNB1	ORPHA:33402
HP:0002605	Hepatic necrosis	6392	SDHD	ORPHA:100093
HP:0002605	Hepatic necrosis	26277	TINF2	OMIM:127550
HP:0002605	Hepatic necrosis	7012	TERC	OMIM:127550
HP:0002605	Hepatic necrosis	7015	TERT	OMIM:127550
HP:0002605	Hepatic necrosis	2110	ETFDH	OMIM:231680
HP:0002605	Hepatic necrosis	2108	ETFA	OMIM:231680
HP:0002605	Hepatic necrosis	2109	ETFB	OMIM:231680
HP:0002251	Aganglionic megacolon	5979	RET	OMIM:162300
HP:0002251	Aganglionic megacolon	5979	RET	ORPHA:388
HP:0002251	Aganglionic megacolon	5979	RET	ORPHA:99803
HP:0002251	Aganglionic megacolon	5979	RET	OMIM:171400
HP:0002251	Aganglionic megacolon	5979	RET	OMIM:142623
HP:0002251	Aganglionic megacolon	25970	SH2B1	ORPHA:261222
HP:0002251	Aganglionic megacolon	6535	SLC6A8	OMIM:300352
HP:0002251	Aganglionic megacolon	6535	SLC6A8	ORPHA:52503
HP:0002251	Aganglionic megacolon	10262	SF3B4	OMIM:154400
HP:0002251	Aganglionic megacolon	26128	KIFBP	OMIM:609460
HP:0002251	Aganglionic megacolon	26128	KIFBP	ORPHA:66629
HP:0002251	Aganglionic megacolon	23556	PIGN	ORPHA:2059
HP:0002251	Aganglionic megacolon	8195	MKKS	OMIM:236700
HP:0002251	Aganglionic megacolon	8195	MKKS	ORPHA:110
HP:0002251	Aganglionic megacolon	8195	MKKS	ORPHA:2473
HP:0002251	Aganglionic megacolon	57167	SALL4	OMIM:607323
HP:0002251	Aganglionic megacolon	57167	SALL4	ORPHA:959
HP:0002251	Aganglionic megacolon	9839	ZEB2	OMIM:235730
HP:0002251	Aganglionic megacolon	9839	ZEB2	ORPHA:261552
HP:0002251	Aganglionic megacolon	9839	ZEB2	ORPHA:261537
HP:0002251	Aganglionic megacolon	64324	NSD1	ORPHA:821
HP:0002251	Aganglionic megacolon	10297	APC2	ORPHA:821
HP:0002251	Aganglionic megacolon	1908	EDN3	ORPHA:661
HP:0002251	Aganglionic megacolon	1908	EDN3	ORPHA:388
HP:0002251	Aganglionic megacolon	1908	EDN3	ORPHA:897
HP:0002251	Aganglionic megacolon	1908	EDN3	OMIM:613265
HP:0002251	Aganglionic megacolon	1908	EDN3	OMIM:613712
HP:0002251	Aganglionic megacolon	2668	GDNF	ORPHA:661
HP:0002251	Aganglionic megacolon	2668	GDNF	ORPHA:388
HP:0002251	Aganglionic megacolon	2668	GDNF	OMIM:613711
HP:0002251	Aganglionic megacolon	627	BDNF	ORPHA:661
HP:0002251	Aganglionic megacolon	10660	LBX1	ORPHA:661
HP:0002251	Aganglionic megacolon	283446	MYO1H	ORPHA:661
HP:0002251	Aganglionic megacolon	8929	PHOX2B	ORPHA:661
HP:0002251	Aganglionic megacolon	8929	PHOX2B	ORPHA:99803
HP:0002251	Aganglionic megacolon	8929	PHOX2B	ORPHA:2151
HP:0002251	Aganglionic megacolon	8929	PHOX2B	OMIM:209880
HP:0002251	Aganglionic megacolon	8929	PHOX2B	OMIM:613013
HP:0002251	Aganglionic megacolon	215	ABCD1	ORPHA:388
HP:0002251	Aganglionic megacolon	6608	SMO	ORPHA:388
HP:0002251	Aganglionic megacolon	1889	ECE1	ORPHA:388
HP:0002251	Aganglionic megacolon	1889	ECE1	OMIM:613870
HP:0002251	Aganglionic megacolon	6720	SREBF1	ORPHA:388
HP:0002251	Aganglionic megacolon	223117	SEMA3D	ORPHA:388
HP:0002251	Aganglionic megacolon	538	ATP7A	ORPHA:388
HP:0002251	Aganglionic megacolon	1910	EDNRB	ORPHA:388
HP:0002251	Aganglionic megacolon	1910	EDNRB	ORPHA:897
HP:0002251	Aganglionic megacolon	1910	EDNRB	OMIM:600501
HP:0002251	Aganglionic megacolon	1910	EDNRB	OMIM:277580
HP:0002251	Aganglionic megacolon	1910	EDNRB	OMIM:600155
HP:0002251	Aganglionic megacolon	1910	EDNRB	ORPHA:895
HP:0002251	Aganglionic megacolon	10512	SEMA3C	ORPHA:388
HP:0002251	Aganglionic megacolon	2064	ERBB2	ORPHA:388
HP:0002251	Aganglionic megacolon	2065	ERBB3	ORPHA:388
HP:0002251	Aganglionic megacolon	2065	ERBB3	OMIM:243180
HP:0002251	Aganglionic megacolon	4902	NRTN	ORPHA:388
HP:0002251	Aganglionic megacolon	23322	RPGRIP1L	ORPHA:220497
HP:0002251	Aganglionic megacolon	4867	NPHP1	ORPHA:220497
HP:0002251	Aganglionic megacolon	4867	NPHP1	ORPHA:110
HP:0002251	Aganglionic megacolon	65062	TMEM237	ORPHA:220497
HP:0002251	Aganglionic megacolon	65062	TMEM237	ORPHA:2318
HP:0002251	Aganglionic megacolon	65062	TMEM237	ORPHA:475
HP:0002251	Aganglionic megacolon	83479	DDX59	OMIM:174300
HP:0002251	Aganglionic megacolon	83479	DDX59	ORPHA:2919
HP:0002251	Aganglionic megacolon	72	ACTG2	ORPHA:2604
HP:0002251	Aganglionic megacolon	72	ACTG2	OMIM:155310
HP:0002251	Aganglionic megacolon	54806	AHI1	ORPHA:220493
HP:0002251	Aganglionic megacolon	54806	AHI1	ORPHA:475
HP:0002251	Aganglionic megacolon	56623	INPP5E	ORPHA:220493
HP:0002251	Aganglionic megacolon	56623	INPP5E	ORPHA:475
HP:0002251	Aganglionic megacolon	153241	CEP120	ORPHA:220493
HP:0002251	Aganglionic megacolon	153241	CEP120	ORPHA:475
HP:0002251	Aganglionic megacolon	54903	MKS1	ORPHA:220493
HP:0002251	Aganglionic megacolon	54903	MKS1	ORPHA:475
HP:0002251	Aganglionic megacolon	54903	MKS1	ORPHA:110
HP:0002251	Aganglionic megacolon	95681	CEP41	ORPHA:220493
HP:0002251	Aganglionic megacolon	95681	CEP41	ORPHA:475
HP:0002251	Aganglionic megacolon	1717	DHCR7	ORPHA:818
HP:0002251	Aganglionic megacolon	1717	DHCR7	OMIM:270400
HP:0002251	Aganglionic megacolon	429	ASCL1	ORPHA:99803
HP:0002251	Aganglionic megacolon	4286	MITF	ORPHA:897
HP:0002251	Aganglionic megacolon	4286	MITF	ORPHA:895
HP:0002251	Aganglionic megacolon	6663	SOX10	ORPHA:897
HP:0002251	Aganglionic megacolon	6663	SOX10	ORPHA:163746
HP:0002251	Aganglionic megacolon	6663	SOX10	OMIM:613266
HP:0002251	Aganglionic megacolon	6663	SOX10	OMIM:609136
HP:0002251	Aganglionic megacolon	6663	SOX10	ORPHA:895
HP:0002251	Aganglionic megacolon	55650	PIGV	OMIM:239300
HP:0002251	Aganglionic megacolon	55650	PIGV	ORPHA:247262
HP:0002251	Aganglionic megacolon	170302	ARX	ORPHA:452
HP:0002251	Aganglionic megacolon	6023	RMRP	ORPHA:175
HP:0002251	Aganglionic megacolon	6023	RMRP	OMIM:250250
HP:0002251	Aganglionic megacolon	84992	PIGY	ORPHA:247262
HP:0002251	Aganglionic megacolon	84720	PIGO	ORPHA:247262
HP:0002251	Aganglionic megacolon	84720	PIGO	OMIM:614749
HP:0002251	Aganglionic megacolon	93210	PGAP3	ORPHA:247262
HP:0002251	Aganglionic megacolon	284098	PIGW	ORPHA:247262
HP:0002251	Aganglionic megacolon	27315	PGAP2	ORPHA:247262
HP:0002251	Aganglionic megacolon	27315	PGAP2	OMIM:614207
HP:0002251	Aganglionic megacolon	9487	PIGL	ORPHA:247262
HP:0002251	Aganglionic megacolon	51360	MBTPS2	ORPHA:2273
HP:0002251	Aganglionic megacolon	51360	MBTPS2	OMIM:308205
HP:0002251	Aganglionic megacolon	51360	MBTPS2	ORPHA:85284
HP:0002251	Aganglionic megacolon	84100	ARL6	OMIM:209900
HP:0002251	Aganglionic megacolon	84100	ARL6	ORPHA:110
HP:0002251	Aganglionic megacolon	79140	CCDC28B	OMIM:209900
HP:0002251	Aganglionic megacolon	582	BBS1	OMIM:209900
HP:0002251	Aganglionic megacolon	582	BBS1	ORPHA:110
HP:0002251	Aganglionic megacolon	672	BRCA1	ORPHA:84
HP:0002251	Aganglionic megacolon	10459	MAD2L2	ORPHA:84
HP:0002251	Aganglionic megacolon	7516	XRCC2	ORPHA:84
HP:0002251	Aganglionic megacolon	29089	UBE2T	ORPHA:84
HP:0002251	Aganglionic megacolon	675	BRCA2	ORPHA:84
HP:0002251	Aganglionic megacolon	55120	FANCL	ORPHA:84
HP:0002251	Aganglionic megacolon	2177	FANCD2	ORPHA:84
HP:0002251	Aganglionic megacolon	2175	FANCA	ORPHA:84
HP:0002251	Aganglionic megacolon	2187	FANCB	ORPHA:84
HP:0002251	Aganglionic megacolon	2176	FANCC	ORPHA:84
HP:0002251	Aganglionic megacolon	2178	FANCE	ORPHA:84
HP:0002251	Aganglionic megacolon	2188	FANCF	ORPHA:84
HP:0002251	Aganglionic megacolon	2189	FANCG	ORPHA:84
HP:0002251	Aganglionic megacolon	5888	RAD51	ORPHA:84
HP:0002251	Aganglionic megacolon	5889	RAD51C	ORPHA:84
HP:0002251	Aganglionic megacolon	55159	RFWD3	ORPHA:84
HP:0002251	Aganglionic megacolon	83990	BRIP1	ORPHA:84
HP:0002251	Aganglionic megacolon	57697	FANCM	ORPHA:84
HP:0002251	Aganglionic megacolon	79728	PALB2	ORPHA:84
HP:0002251	Aganglionic megacolon	84464	SLX4	ORPHA:84
HP:0002251	Aganglionic megacolon	2072	ERCC4	ORPHA:84
HP:0002251	Aganglionic megacolon	55215	FANCI	ORPHA:84
HP:0002251	Aganglionic megacolon	546	ATRX	ORPHA:847
HP:0002251	Aganglionic megacolon	1312	COMT	ORPHA:567
HP:0002251	Aganglionic megacolon	221037	JMJD1C	ORPHA:567
HP:0002251	Aganglionic megacolon	2812	GP1BB	ORPHA:567
HP:0002251	Aganglionic megacolon	6239	RREB1	ORPHA:567
HP:0002251	Aganglionic megacolon	6899	TBX1	ORPHA:567
HP:0002251	Aganglionic megacolon	7290	HIRA	ORPHA:567
HP:0002251	Aganglionic megacolon	9632	SEC24C	ORPHA:567
HP:0002251	Aganglionic megacolon	7353	UFD1	ORPHA:567
HP:0002251	Aganglionic megacolon	421	ARVCF	ORPHA:567
HP:0002251	Aganglionic megacolon	79583	TMEM231	ORPHA:2318
HP:0002251	Aganglionic megacolon	51524	TMEM138	ORPHA:2318
HP:0002251	Aganglionic megacolon	23090	ZNF423	ORPHA:2318
HP:0002251	Aganglionic megacolon	80184	CEP290	ORPHA:2318
HP:0002251	Aganglionic megacolon	80184	CEP290	ORPHA:110
HP:0002251	Aganglionic megacolon	51259	TMEM216	ORPHA:2318
HP:0002251	Aganglionic megacolon	57545	CC2D2A	ORPHA:2318
HP:0002251	Aganglionic megacolon	5077	PAX3	OMIM:148820
HP:0002251	Aganglionic megacolon	5077	PAX3	ORPHA:894
HP:0002251	Aganglionic megacolon	26040	SETBP1	ORPHA:798
HP:0002251	Aganglionic megacolon	9851	KIAA0753	ORPHA:475
HP:0002251	Aganglionic megacolon	5147	PDE6D	ORPHA:475
HP:0002251	Aganglionic megacolon	79600	TCTN1	ORPHA:475
HP:0002251	Aganglionic megacolon	79848	CSPP1	ORPHA:475
HP:0002251	Aganglionic megacolon	8481	OFD1	ORPHA:475
HP:0002251	Aganglionic megacolon	51684	SUFU	ORPHA:475
HP:0002251	Aganglionic megacolon	65250	CPLANE1	ORPHA:475
HP:0002251	Aganglionic megacolon	91147	TMEM67	ORPHA:475
HP:0002251	Aganglionic megacolon	200894	ARL13B	ORPHA:475
HP:0002251	Aganglionic megacolon	9731	CEP104	ORPHA:475
HP:0002251	Aganglionic megacolon	219844	HYLS1	ORPHA:475
HP:0002251	Aganglionic megacolon	23247	KATNIP	ORPHA:475
HP:0002251	Aganglionic megacolon	219854	TMEM218	ORPHA:475
HP:0002251	Aganglionic megacolon	9786	KIAA0586	ORPHA:475
HP:0002251	Aganglionic megacolon	26123	TCTN3	ORPHA:475
HP:0002251	Aganglionic megacolon	79867	TCTN2	ORPHA:475
HP:0002251	Aganglionic megacolon	80776	B9D2	ORPHA:475
HP:0002251	Aganglionic megacolon	10464	PIBF1	ORPHA:475
HP:0002251	Aganglionic megacolon	80210	ARMC9	ORPHA:475
HP:0002251	Aganglionic megacolon	23116	TOGARAM1	ORPHA:475
HP:0002251	Aganglionic megacolon	25776	CBY1	ORPHA:475
HP:0002251	Aganglionic megacolon	27077	B9D1	ORPHA:475
HP:0002251	Aganglionic megacolon	403	ARL3	ORPHA:475
HP:0002251	Aganglionic megacolon	80173	IFT74	ORPHA:475
HP:0002251	Aganglionic megacolon	80173	IFT74	ORPHA:110
HP:0002251	Aganglionic megacolon	92482	BBIP1	ORPHA:110
HP:0002251	Aganglionic megacolon	11020	IFT27	ORPHA:110
HP:0002251	Aganglionic megacolon	49855	SCAPER	ORPHA:110
HP:0002251	Aganglionic megacolon	51057	WDPCP	ORPHA:110
HP:0002251	Aganglionic megacolon	132320	SCLT1	ORPHA:110
HP:0002251	Aganglionic megacolon	27241	BBS9	ORPHA:110
HP:0002251	Aganglionic megacolon	84984	CEP19	ORPHA:110
HP:0002251	Aganglionic megacolon	22954	TRIM32	ORPHA:110
HP:0002251	Aganglionic megacolon	79738	BBS10	ORPHA:110
HP:0002251	Aganglionic megacolon	123016	TTC8	ORPHA:110
HP:0002251	Aganglionic megacolon	26160	IFT172	ORPHA:110
HP:0002251	Aganglionic megacolon	583	BBS2	ORPHA:110
HP:0002251	Aganglionic megacolon	585	BBS4	ORPHA:110
HP:0002251	Aganglionic megacolon	54585	LZTFL1	ORPHA:110
HP:0002251	Aganglionic megacolon	55212	BBS7	ORPHA:110
HP:0002251	Aganglionic megacolon	166379	BBS12	ORPHA:110
HP:0002251	Aganglionic megacolon	10806	SDCCAG8	ORPHA:110
HP:0002251	Aganglionic megacolon	157657	CFAP418	ORPHA:110
HP:0002251	Aganglionic megacolon	129880	BBS5	ORPHA:110
HP:0002251	Aganglionic megacolon	54880	BCOR	OMIM:309800
HP:0002251	Aganglionic megacolon	8260	NAA10	OMIM:309800
HP:0002251	Aganglionic megacolon	6925	TCF4	ORPHA:2896
HP:0002251	Aganglionic megacolon	1654	DDX3X	ORPHA:3338
HP:0002251	Aganglionic megacolon	3845	KRAS	ORPHA:3339
HP:0002251	Aganglionic megacolon	6591	SNAI2	ORPHA:2884
HP:0002251	Aganglionic megacolon	6591	SNAI2	ORPHA:895
HP:0002251	Aganglionic megacolon	3815	KIT	ORPHA:2884
HP:0002251	Aganglionic megacolon	3815	KIT	OMIM:172800
HP:0002251	Aganglionic megacolon	7846	TUBA1A	ORPHA:171680
HP:0002251	Aganglionic megacolon	7299	TYR	ORPHA:895
HP:0002251	Aganglionic megacolon	4254	KITLG	ORPHA:895
HP:0002251	Aganglionic megacolon	2294	FOXF1	ORPHA:210122
HP:0002251	Aganglionic megacolon	3897	L1CAM	OMIM:304100
HP:0002251	Aganglionic megacolon	3897	L1CAM	ORPHA:1497
HP:0002607	Bowel incontinence	2261	FGFR3	OMIM:616482
HP:0002607	Bowel incontinence	23259	DDHD2	OMIM:615033
HP:0002607	Bowel incontinence	23446	SLC44A1	OMIM:618868
HP:0002607	Bowel incontinence	4001	LMNB1	OMIM:169500
HP:0002607	Bowel incontinence	6476	SI	ORPHA:35122
HP:0002607	Bowel incontinence	81839	VANGL1	ORPHA:3027
HP:0002607	Bowel incontinence	80199	FUZ	ORPHA:3027
HP:0002607	Bowel incontinence	9839	ZEB2	ORPHA:261537
HP:0002607	Bowel incontinence	9839	ZEB2	ORPHA:261552
HP:0002607	Bowel incontinence	23503	ZFYVE26	OMIM:270700
HP:0002607	Bowel incontinence	5354	PLP1	ORPHA:99015
HP:0002607	Bowel incontinence	10479	SLC9A6	OMIM:300243
HP:0002607	Bowel incontinence	613	BCR	ORPHA:261330
HP:0002607	Bowel incontinence	1399	CRKL	ORPHA:261330
HP:0002607	Bowel incontinence	5594	MAPK1	ORPHA:261330
HP:0002607	Bowel incontinence	79803	HPS6	OMIM:614075
HP:0002607	Bowel incontinence	79152	FA2H	ORPHA:171629
HP:0002607	Bowel incontinence	5610	EIF2AK2	OMIM:618877
HP:0002607	Bowel incontinence	6299	SALL1	ORPHA:857
HP:0002607	Bowel incontinence	51339	DACT1	ORPHA:857
HP:0002607	Bowel incontinence	6904	TBCD	ORPHA:496641
HP:0002607	Bowel incontinence	6904	TBCD	OMIM:617193
HP:0002607	Bowel incontinence	410	ARSA	ORPHA:309271
HP:0002607	Bowel incontinence	5660	PSAP	ORPHA:309271
HP:0002607	Bowel incontinence	28982	FLVCR1	ORPHA:88628
HP:0002607	Bowel incontinence	339855	KY	OMIM:617114
HP:0002607	Bowel incontinence	215	ABCD1	ORPHA:139399
HP:0002607	Bowel incontinence	215	ABCD1	OMIM:300100
HP:0002607	Bowel incontinence	7415	VCP	ORPHA:329478
HP:0002607	Bowel incontinence	1312	COMT	ORPHA:567
HP:0002607	Bowel incontinence	221037	JMJD1C	ORPHA:567
HP:0002607	Bowel incontinence	2812	GP1BB	ORPHA:567
HP:0002607	Bowel incontinence	6239	RREB1	ORPHA:567
HP:0002607	Bowel incontinence	6899	TBX1	ORPHA:567
HP:0002607	Bowel incontinence	7290	HIRA	ORPHA:567
HP:0002607	Bowel incontinence	9632	SEC24C	ORPHA:567
HP:0002607	Bowel incontinence	7353	UFD1	ORPHA:567
HP:0002607	Bowel incontinence	421	ARVCF	ORPHA:567
HP:0002607	Bowel incontinence	8626	TP63	ORPHA:93930
HP:0002607	Bowel incontinence	3670	ISL1	ORPHA:93930
HP:0002607	Bowel incontinence	2332	FMR1	ORPHA:93256
HP:0002607	Bowel incontinence	2332	FMR1	OMIM:300623
HP:0002607	Bowel incontinence	25778	DSTYK	ORPHA:101003
HP:0002607	Bowel incontinence	6253	RTN2	ORPHA:100993
HP:0002607	Bowel incontinence	51271	UBAP1	ORPHA:100993
HP:0002607	Bowel incontinence	5654	HTRA1	OMIM:600142
HP:0002607	Bowel incontinence	80217	CFAP43	OMIM:236690
HP:0002607	Bowel incontinence	6329	SCN4A	ORPHA:682
HP:0002607	Bowel incontinence	23400	ATP13A2	ORPHA:306674
HP:0002607	Bowel incontinence	9860	LRIG2	ORPHA:2704
HP:0002607	Bowel incontinence	60495	HPSE2	ORPHA:2704
HP:0002607	Bowel incontinence	10528	NOP56	ORPHA:276198
HP:0002607	Bowel incontinence	2550	GABBR1	OMIM:620502
HP:0002607	Bowel incontinence	1760	DMPK	ORPHA:589821
HP:0002607	Bowel incontinence	23162	MAPK8IP3	OMIM:618443
HP:0002607	Bowel incontinence	2132	EXT2	OMIM:616682
HP:0002608	Celiac disease	23314	SATB2	ORPHA:576283
HP:0002608	Celiac disease	9968	MED12	OMIM:301068
HP:0002608	Celiac disease	51322	WAC	ORPHA:284169
HP:0002608	Celiac disease	92482	BBIP1	ORPHA:110
HP:0002608	Celiac disease	80184	CEP290	ORPHA:110
HP:0002608	Celiac disease	11020	IFT27	ORPHA:110
HP:0002608	Celiac disease	582	BBS1	ORPHA:110
HP:0002608	Celiac disease	49855	SCAPER	ORPHA:110
HP:0002608	Celiac disease	4867	NPHP1	ORPHA:110
HP:0002608	Celiac disease	51057	WDPCP	ORPHA:110
HP:0002608	Celiac disease	132320	SCLT1	ORPHA:110
HP:0002608	Celiac disease	27241	BBS9	ORPHA:110
HP:0002608	Celiac disease	84984	CEP19	ORPHA:110
HP:0002608	Celiac disease	22954	TRIM32	ORPHA:110
HP:0002608	Celiac disease	54903	MKS1	ORPHA:110
HP:0002608	Celiac disease	79738	BBS10	ORPHA:110
HP:0002608	Celiac disease	123016	TTC8	ORPHA:110
HP:0002608	Celiac disease	26160	IFT172	ORPHA:110
HP:0002608	Celiac disease	583	BBS2	ORPHA:110
HP:0002608	Celiac disease	585	BBS4	ORPHA:110
HP:0002608	Celiac disease	8195	MKKS	ORPHA:110
HP:0002608	Celiac disease	54585	LZTFL1	ORPHA:110
HP:0002608	Celiac disease	55212	BBS7	ORPHA:110
HP:0002608	Celiac disease	166379	BBS12	ORPHA:110
HP:0002608	Celiac disease	10806	SDCCAG8	ORPHA:110
HP:0002608	Celiac disease	157657	CFAP418	ORPHA:110
HP:0002608	Celiac disease	84100	ARL6	ORPHA:110
HP:0002608	Celiac disease	129880	BBS5	ORPHA:110
HP:0002608	Celiac disease	80173	IFT74	ORPHA:110
HP:0002608	Celiac disease	51256	TBC1D7	OMIM:248000
HP:0002608	Celiac disease	2859	GPR35	ORPHA:171
HP:0002608	Celiac disease	10507	SEMA4D	ORPHA:171
HP:0002608	Celiac disease	4485	MST1	ORPHA:171
HP:0002608	Celiac disease	6925	TCF4	ORPHA:171
HP:0002608	Celiac disease	326	AIRE	OMIM:240300
HP:0002608	Celiac disease	10526	IPO8	OMIM:619472
HP:0002608	Celiac disease	8651	SOCS1	OMIM:619375
HP:0002608	Celiac disease	6774	STAT3	OMIM:615952
HP:0002608	Celiac disease	10625	IVNS1ABP	OMIM:618969
HP:0002608	Celiac disease	6777	STAT5B	OMIM:618985
HP:0002608	Celiac disease	3117	HLA-DQA1	OMIM:212750
HP:0002608	Celiac disease	3119	HLA-DQB1	OMIM:212750
HP:0002608	Celiac disease	10092	ARPC5	OMIM:620565
HP:0002608	Celiac disease	3514	IGKC	ORPHA:183675
HP:0002608	Celiac disease	3501	IGHG2	ORPHA:183675
HP:0002608	Celiac disease	29110	TBK1	OMIM:620880
HP:0002608	Celiac disease	3594	IL12RB1	ORPHA:186
HP:0002608	Celiac disease	23534	TNPO3	ORPHA:186
HP:0002608	Celiac disease	3592	IL12A	ORPHA:186
HP:0002608	Celiac disease	6689	SPIB	ORPHA:186
HP:0002608	Celiac disease	5450	POU2AF1	ORPHA:186
HP:0002608	Celiac disease	9966	TNFSF15	ORPHA:186
HP:0002608	Celiac disease	79258	MMEL1	ORPHA:186
HP:0002608	Celiac disease	3663	IRF5	ORPHA:186
HP:0002608	Celiac disease	10847	SRCAP	OMIM:136140
HP:0002608	Celiac disease	10847	SRCAP	ORPHA:2044
HP:0002608	Celiac disease	29998	BICRA	OMIM:619325
HP:0002608	Celiac disease	4953	ODC1	ORPHA:544488
HP:0002608	Celiac disease	2006	ELN	OMIM:194050
HP:0002608	Celiac disease	51085	MLXIPL	OMIM:194050
HP:0005857	Cervical spina bifida	51339	DACT1	ORPHA:63260
HP:0005857	Cervical spina bifida	1836	SLC26A2	ORPHA:628
HP:0005856	Ulnar radial head dislocation	6473	SHOX	ORPHA:314795
HP:0031990	Chvostek sign	5741	PTH	OMIM:146200
HP:0031992	Apical hypertrophic cardiomyopathy	7414	VCL	OMIM:613255
HP:0031992	Apical hypertrophic cardiomyopathy	80206	FHOD3	OMIM:619402
HP:0031992	Apical hypertrophic cardiomyopathy	7137	TNNI3	OMIM:613690
HP:0031993	Hoffmann sign	51308	REEP2	OMIM:615625
HP:0031993	Hoffmann sign	51117	COQ4	OMIM:620666
HP:0031993	Hoffmann sign	10229	COQ7	OMIM:620402
HP:0031993	Hoffmann sign	11261	CHP1	OMIM:618438
HP:0031993	Hoffmann sign	2581	GALC	ORPHA:206448
HP:0031993	Hoffmann sign	587	BCAT2	OMIM:618850
HP:0031993	Hoffmann sign	5297	PI4KA	OMIM:619621
HP:0031993	Hoffmann sign	7345	UCHL1	OMIM:615491
HP:0031993	Hoffmann sign	25978	CHMP2B	ORPHA:803
HP:0031993	Hoffmann sign	3178	HNRNPA1	ORPHA:803
HP:0031993	Hoffmann sign	8148	TAF15	ORPHA:803
HP:0031993	Hoffmann sign	5445	PON2	ORPHA:803
HP:0031993	Hoffmann sign	9217	VAPB	ORPHA:803
HP:0031993	Hoffmann sign	8878	SQSTM1	ORPHA:803
HP:0031993	Hoffmann sign	5630	PRPH	ORPHA:803
HP:0031993	Hoffmann sign	29110	TBK1	ORPHA:803
HP:0031993	Hoffmann sign	55830	GLT8D1	ORPHA:803
HP:0031993	Hoffmann sign	755	CFAP410	ORPHA:803
HP:0031993	Hoffmann sign	10891	PPARGC1A	ORPHA:803
HP:0031993	Hoffmann sign	6647	SOD1	ORPHA:803
HP:0031993	Hoffmann sign	10133	OPTN	ORPHA:803
HP:0031993	Hoffmann sign	1639	DCTN1	ORPHA:803
HP:0031993	Hoffmann sign	9896	FIG4	ORPHA:803
HP:0031993	Hoffmann sign	5444	PON1	ORPHA:803
HP:0031993	Hoffmann sign	5446	PON3	ORPHA:803
HP:0031993	Hoffmann sign	4744	NEFH	ORPHA:803
HP:0031993	Hoffmann sign	5216	PFN1	ORPHA:803
HP:0031993	Hoffmann sign	9782	MATR3	ORPHA:803
HP:0031993	Hoffmann sign	54209	TREM2	ORPHA:803
HP:0031993	Hoffmann sign	7415	VCP	ORPHA:803
HP:0031993	Hoffmann sign	283	ANG	ORPHA:803
HP:0031993	Hoffmann sign	23435	TARDBP	ORPHA:803
HP:0031993	Hoffmann sign	29978	UBQLN2	ORPHA:803
HP:0031993	Hoffmann sign	2733	GLE1	ORPHA:803
HP:0031993	Hoffmann sign	2521	FUS	ORPHA:803
HP:0031993	Hoffmann sign	4750	NEK1	ORPHA:803
HP:0031993	Hoffmann sign	6311	ATXN2	ORPHA:803
HP:0031993	Hoffmann sign	1610	DAO	ORPHA:803
HP:0031993	Hoffmann sign	2066	ERBB4	ORPHA:803
HP:0031993	Hoffmann sign	311	ANXA11	ORPHA:803
HP:0031993	Hoffmann sign	23025	UNC13A	ORPHA:803
HP:0031993	Hoffmann sign	899	CCNF	ORPHA:803
HP:0031993	Hoffmann sign	400916	CHCHD10	ORPHA:803
HP:0031993	Hoffmann sign	10613	ERLIN1	OMIM:615681
HP:0031993	Hoffmann sign	215	ABCD1	ORPHA:139396
HP:0031993	Hoffmann sign	5832	ALDH18A1	OMIM:601162
HP:0031996	Inspiratory crackles	25913	POT1	OMIM:620367
HP:0005867	4-5 metacarpal synostosis	8823	FGF16	OMIM:309630
HP:0005867	4-5 metacarpal synostosis	3239	HOXD13	OMIM:186300
HP:0005867	4-5 metacarpal synostosis	64093	SMOC1	OMIM:206920
HP:0005867	4-5 metacarpal synostosis	9775	EIF4A3	OMIM:268305
HP:0005868	Metaphyseal enchondromatosis	1280	COL2A1	ORPHA:85198
HP:0005868	Metaphyseal enchondromatosis	3417	IDH1	ORPHA:99646
HP:0007626	Mandibular osteomyelitis	203859	ANO5	ORPHA:53697
HP:0007626	Mandibular osteomyelitis	1186	CLCN7	ORPHA:53
HP:0007626	Mandibular osteomyelitis	1186	CLCN7	OMIM:166600
HP:0007626	Mandibular osteomyelitis	8600	TNFSF11	OMIM:259710
HP:0009463	Ulnar deviation of the 3rd finger	51651	PTRH2	OMIM:616263
HP:0009463	Ulnar deviation of the 3rd finger	51651	PTRH2	ORPHA:456312
HP:0009463	Ulnar deviation of the 3rd finger	8200	GDF5	OMIM:113100
HP:0005864	Pseudoarthrosis	2260	FGFR1	OMIM:166250
HP:0005864	Pseudoarthrosis	4233	MET	OMIM:607278
HP:0005864	Pseudoarthrosis	79879	CCDC134	OMIM:619795
HP:0005864	Pseudoarthrosis	4617	MYF5	OMIM:618155
HP:0005864	Pseudoarthrosis	1947	EFNB1	ORPHA:1520
HP:0005864	Pseudoarthrosis	1947	EFNB1	OMIM:304110
HP:0005864	Pseudoarthrosis	7476	WNT7A	OMIM:276820
HP:0005864	Pseudoarthrosis	10269	ZMPSTE24	OMIM:275210
HP:0005864	Pseudoarthrosis	865	CBFB	OMIM:620099
HP:0005864	Pseudoarthrosis	4763	NF1	OMIM:162200
HP:0005863	Type E brachydactyly	9759	HDAC4	OMIM:600430
HP:0005863	Type E brachydactyly	5139	PDE3A	OMIM:112410
HP:0005863	Type E brachydactyly	5744	PTHLH	ORPHA:93387
HP:0005863	Type E brachydactyly	3239	HOXD13	ORPHA:93387
HP:0005863	Type E brachydactyly	3239	HOXD13	OMIM:113300
HP:0005863	Type E brachydactyly	1280	COL2A1	ORPHA:1856
HP:0004401	Meconium ileus	6572	SLC18A3	OMIM:617239
HP:0004401	Meconium ileus	2984	GUCY2C	OMIM:614665
HP:0004401	Meconium ileus	6804	STX1A	ORPHA:586
HP:0004401	Meconium ileus	2947	GSTM3	ORPHA:586
HP:0004401	Meconium ileus	7040	TGFB1	ORPHA:586
HP:0004401	Meconium ileus	7040	TGFB1	OMIM:219700
HP:0004401	Meconium ileus	2729	GCLC	ORPHA:586
HP:0004401	Meconium ileus	1084	CEACAM3	ORPHA:586
HP:0004401	Meconium ileus	6556	SLC11A1	ORPHA:586
HP:0004401	Meconium ileus	51164	DCTN4	ORPHA:586
HP:0004401	Meconium ileus	3783	KCNN4	ORPHA:586
HP:0004401	Meconium ileus	4282	MIF	ORPHA:586
HP:0004401	Meconium ileus	1909	EDNRA	ORPHA:586
HP:0004401	Meconium ileus	6550	SLC9A3	ORPHA:586
HP:0004401	Meconium ileus	3162	HMOX1	ORPHA:586
HP:0004401	Meconium ileus	115019	SLC26A9	ORPHA:586
HP:0004401	Meconium ileus	3077	HFE	ORPHA:586
HP:0004401	Meconium ileus	11254	SLC6A14	ORPHA:586
HP:0004401	Meconium ileus	5265	SERPINA1	ORPHA:586
HP:0004401	Meconium ileus	1080	CFTR	ORPHA:586
HP:0004401	Meconium ileus	1080	CFTR	OMIM:219700
HP:0004401	Meconium ileus	22802	CLCA4	ORPHA:586
HP:0004401	Meconium ileus	4680	CEACAM6	ORPHA:586
HP:0004401	Meconium ileus	2212	FCGR2A	OMIM:219700
HP:0002611	Cholestatic liver disease	5551	PRF1	ORPHA:540
HP:0002611	Cholestatic liver disease	8676	STX11	ORPHA:540
HP:0002611	Cholestatic liver disease	201294	UNC13D	ORPHA:540
HP:0002611	Cholestatic liver disease	6813	STXBP2	ORPHA:540
HP:0002611	Cholestatic liver disease	1717	DHCR7	OMIM:270400
HP:0002611	Cholestatic liver disease	3030	HADHA	ORPHA:5
HP:0002611	Cholestatic liver disease	4072	EPCAM	ORPHA:92050
HP:0002611	Cholestatic liver disease	105371045	PERCC1	ORPHA:92050
HP:0002611	Cholestatic liver disease	26276	VPS33B	OMIM:208085
HP:0002611	Cholestatic liver disease	50674	NEUROG3	ORPHA:83620
HP:0002611	Cholestatic liver disease	8565	YARS1	OMIM:619418
HP:0002611	Cholestatic liver disease	1777	DNASE2	OMIM:619858
HP:0002611	Cholestatic liver disease	23600	AMACR	ORPHA:79095
HP:0002611	Cholestatic liver disease	63894	VIPAS39	OMIM:613404
HP:0002611	Cholestatic liver disease	23729	SHPK	ORPHA:440713
HP:0002611	Cholestatic liver disease	84317	CCDC115	OMIM:616828
HP:0002611	Cholestatic liver disease	4853	NOTCH2	OMIM:610205
HP:0002611	Cholestatic liver disease	80270	HSD3B7	ORPHA:79301
HP:0002612	Congenital hepatic fibrosis	84314	TMEM107	ORPHA:564
HP:0002612	Congenital hepatic fibrosis	26123	TCTN3	ORPHA:564
HP:0002612	Congenital hepatic fibrosis	79867	TCTN2	ORPHA:564
HP:0002612	Congenital hepatic fibrosis	80776	B9D2	ORPHA:564
HP:0002612	Congenital hepatic fibrosis	79600	TCTN1	ORPHA:564
HP:0002612	Congenital hepatic fibrosis	57096	RPGRIP1	ORPHA:564
HP:0002612	Congenital hepatic fibrosis	79848	CSPP1	ORPHA:564
HP:0002612	Congenital hepatic fibrosis	80184	CEP290	ORPHA:564
HP:0002612	Congenital hepatic fibrosis	80184	CEP290	ORPHA:3156
HP:0002612	Congenital hepatic fibrosis	51259	TMEM216	ORPHA:564
HP:0002612	Congenital hepatic fibrosis	57545	CC2D2A	ORPHA:564
HP:0002612	Congenital hepatic fibrosis	57545	CC2D2A	OMIM:619111
HP:0002612	Congenital hepatic fibrosis	57545	CC2D2A	ORPHA:1454
HP:0002612	Congenital hepatic fibrosis	79583	TMEM231	ORPHA:564
HP:0002612	Congenital hepatic fibrosis	91147	TMEM67	ORPHA:564
HP:0002612	Congenital hepatic fibrosis	91147	TMEM67	ORPHA:1454
HP:0002612	Congenital hepatic fibrosis	91147	TMEM67	ORPHA:84081
HP:0002612	Congenital hepatic fibrosis	79770	TXNDC15	ORPHA:564
HP:0002612	Congenital hepatic fibrosis	27077	B9D1	ORPHA:564
HP:0002612	Congenital hepatic fibrosis	23322	RPGRIP1L	ORPHA:564
HP:0002612	Congenital hepatic fibrosis	23322	RPGRIP1L	ORPHA:1454
HP:0002612	Congenital hepatic fibrosis	54903	MKS1	ORPHA:564
HP:0002612	Congenital hepatic fibrosis	65062	TMEM237	ORPHA:564
HP:0002612	Congenital hepatic fibrosis	55112	DYNC2I1	ORPHA:93271
HP:0002612	Congenital hepatic fibrosis	57560	IFT80	ORPHA:93271
HP:0002612	Congenital hepatic fibrosis	57539	WDR35	ORPHA:93271
HP:0002612	Congenital hepatic fibrosis	79659	DYNC2H1	ORPHA:93271
HP:0002612	Congenital hepatic fibrosis	89891	DYNC2I2	ORPHA:93271
HP:0002612	Congenital hepatic fibrosis	9742	IFT140	OMIM:266920
HP:0002612	Congenital hepatic fibrosis	79989	IFT56	OMIM:619534
HP:0002612	Congenital hepatic fibrosis	56623	INPP5E	ORPHA:1454
HP:0002612	Congenital hepatic fibrosis	10908	PNPLA6	ORPHA:2377
HP:0002612	Congenital hepatic fibrosis	51473	DCDC2	ORPHA:84081
HP:0002612	Congenital hepatic fibrosis	57817	HAMP	ORPHA:79230
HP:0002612	Congenital hepatic fibrosis	148738	HJV	ORPHA:79230
HP:0002612	Congenital hepatic fibrosis	26146	TRAF3IP1	ORPHA:3156
HP:0002612	Congenital hepatic fibrosis	9657	IQCB1	ORPHA:3156
HP:0002612	Congenital hepatic fibrosis	10806	SDCCAG8	ORPHA:3156
HP:0002612	Congenital hepatic fibrosis	27130	INVS	ORPHA:3156
HP:0002612	Congenital hepatic fibrosis	4867	NPHP1	ORPHA:3156
HP:0002612	Congenital hepatic fibrosis	261734	NPHP4	ORPHA:3156
HP:0002612	Congenital hepatic fibrosis	57728	WDR19	ORPHA:3156
HP:0002612	Congenital hepatic fibrosis	27031	NPHP3	ORPHA:3156
HP:0002612	Congenital hepatic fibrosis	22897	CEP164	ORPHA:3156
HP:0002612	Congenital hepatic fibrosis	3516	RBPJ	ORPHA:974
HP:0002612	Congenital hepatic fibrosis	4851	NOTCH1	ORPHA:974
HP:0002612	Congenital hepatic fibrosis	57514	ARHGAP31	ORPHA:974
HP:0002612	Congenital hepatic fibrosis	57572	DOCK6	ORPHA:974
HP:0002612	Congenital hepatic fibrosis	285203	EOGT	ORPHA:974
HP:0002612	Congenital hepatic fibrosis	54567	DLL4	ORPHA:974
HP:0002612	Congenital hepatic fibrosis	199221	DZIP1L	ORPHA:731
HP:0002612	Congenital hepatic fibrosis	5314	PKHD1	ORPHA:731
HP:0002613	Biliary cirrhosis	27031	NPHP3	OMIM:267010
HP:0002613	Biliary cirrhosis	27031	NPHP3	OMIM:208540
HP:0002613	Biliary cirrhosis	1080	CFTR	OMIM:219700
HP:0002613	Biliary cirrhosis	2212	FCGR2A	OMIM:219700
HP:0002613	Biliary cirrhosis	7040	TGFB1	OMIM:219700
HP:0002613	Biliary cirrhosis	3594	IL12RB1	ORPHA:186
HP:0002613	Biliary cirrhosis	23534	TNPO3	ORPHA:186
HP:0002613	Biliary cirrhosis	3592	IL12A	ORPHA:186
HP:0002613	Biliary cirrhosis	6689	SPIB	ORPHA:186
HP:0002613	Biliary cirrhosis	5450	POU2AF1	ORPHA:186
HP:0002613	Biliary cirrhosis	9966	TNFSF15	ORPHA:186
HP:0002613	Biliary cirrhosis	79258	MMEL1	ORPHA:186
HP:0002613	Biliary cirrhosis	3663	IRF5	ORPHA:186
HP:0002613	Biliary cirrhosis	5244	ABCB4	ORPHA:69663
HP:0002613	Biliary cirrhosis	51473	DCDC2	OMIM:617394
HP:0002613	Biliary cirrhosis	79989	IFT56	OMIM:619534
HP:0002613	Biliary cirrhosis	3930	LBR	OMIM:613471
HP:0002613	Biliary cirrhosis	57539	WDR35	OMIM:613610
HP:0002613	Biliary cirrhosis	3875	KRT18	OMIM:215600
HP:0002613	Biliary cirrhosis	6811	STX5	OMIM:620454
HP:0002613	Biliary cirrhosis	5314	PKHD1	ORPHA:53035
HP:0002614	Hepatic periportal necrosis	2110	ETFDH	OMIM:231680
HP:0002614	Hepatic periportal necrosis	2108	ETFA	OMIM:231680
HP:0002614	Hepatic periportal necrosis	2109	ETFB	OMIM:231680
HP:0002615	Hypotension	1534	CYB561	OMIM:618182
HP:0002615	Hypotension	8518	ELP1	OMIM:223900
HP:0002615	Hypotension	8518	ELP1	ORPHA:1764
HP:0002615	Hypotension	6622	SNCA	OMIM:605543
HP:0002615	Hypotension	1621	DBH	ORPHA:230
HP:0002615	Hypotension	1621	DBH	OMIM:223360
HP:0002615	Hypotension	1136	CHRNA3	OMIM:191800
HP:0002615	Hypotension	538	ATP7A	OMIM:304150
HP:0002615	Hypotension	84320	ACBD6	OMIM:620785
HP:0002615	Hypotension	27235	COQ2	OMIM:146500
HP:0002615	Hypotension	1277	COL1A1	ORPHA:287
HP:0002615	Hypotension	1289	COL5A1	ORPHA:287
HP:0002615	Hypotension	1290	COL5A2	ORPHA:287
HP:0002615	Hypotension	2632	GBE1	OMIM:263570
HP:0002615	Hypotension	857	CAV1	OMIM:606721
HP:0002615	Hypotension	3594	IL12RB1	ORPHA:186
HP:0002615	Hypotension	23534	TNPO3	ORPHA:186
HP:0002615	Hypotension	3592	IL12A	ORPHA:186
HP:0002615	Hypotension	6689	SPIB	ORPHA:186
HP:0002615	Hypotension	5450	POU2AF1	ORPHA:186
HP:0002615	Hypotension	9966	TNFSF15	ORPHA:186
HP:0002615	Hypotension	79258	MMEL1	ORPHA:186
HP:0002615	Hypotension	3663	IRF5	ORPHA:186
HP:0002615	Hypotension	3074	HEXB	OMIM:268800
HP:0002615	Hypotension	51142	CHCHD2	OMIM:616710
HP:0002615	Hypotension	80208	SPG11	ORPHA:2822
HP:0002615	Hypotension	567	B2M	OMIM:620659
HP:0002615	Hypotension	4001	LMNB1	ORPHA:99027
HP:0002615	Hypotension	2934	GSN	OMIM:105120
HP:0002615	Hypotension	171023	ASXL1	ORPHA:98850
HP:0002615	Hypotension	171023	ASXL1	ORPHA:98849
HP:0002615	Hypotension	54790	TET2	ORPHA:98850
HP:0002615	Hypotension	54790	TET2	ORPHA:98849
HP:0002615	Hypotension	867	CBL	ORPHA:98850
HP:0002615	Hypotension	861	RUNX1	ORPHA:98850
HP:0002615	Hypotension	6427	SRSF2	ORPHA:98850
HP:0002615	Hypotension	6427	SRSF2	ORPHA:98849
HP:0002615	Hypotension	3155	HMGCL	ORPHA:20
HP:0002615	Hypotension	6492	SIM1	ORPHA:369873
HP:0002615	Hypotension	4791	NFKB2	ORPHA:293978
HP:0002615	Hypotension	7428	VHL	OMIM:263400
HP:0002615	Hypotension	51422	PRKAG2	OMIM:261740
HP:0002615	Hypotension	3815	KIT	ORPHA:98849
HP:0002615	Hypotension	3815	KIT	ORPHA:79455
HP:0002615	Hypotension	2767	GNA11	ORPHA:428
HP:0002615	Hypotension	846	CASR	ORPHA:428
HP:0002615	Hypotension	3032	HADHB	OMIM:620300
HP:0002615	Hypotension	6261	RYR1	ORPHA:466650
HP:0002615	Hypotension	6261	RYR1	OMIM:145600
HP:0002615	Hypotension	1636	ACE	OMIM:267430
HP:0002615	Hypotension	183	AGT	OMIM:267430
HP:0002615	Hypotension	185	AGTR1	OMIM:267430
HP:0002615	Hypotension	5972	REN	OMIM:267430
HP:0002615	Hypotension	1639	DCTN1	ORPHA:178509
HP:0002615	Hypotension	1644	DDC	ORPHA:35708
HP:0002615	Hypotension	1644	DDC	OMIM:608643
HP:0002615	Hypotension	4221	MEN1	ORPHA:2965
HP:0002615	Hypotension	64072	CDH23	ORPHA:2965
HP:0002615	Hypotension	64072	CDH23	ORPHA:91347
HP:0002615	Hypotension	9049	AIP	ORPHA:2965
HP:0002615	Hypotension	710	SERPING1	ORPHA:100050
HP:0002615	Hypotension	3284	HSD3B2	ORPHA:90791
HP:0002615	Hypotension	7139	TNNT2	OMIM:612422
HP:0002615	Hypotension	1585	CYP11B2	OMIM:203400
HP:0002615	Hypotension	1585	CYP11B2	ORPHA:556030
HP:0002615	Hypotension	2332	FMR1	ORPHA:93256
HP:0002615	Hypotension	1583	CYP11A1	ORPHA:289548
HP:0002615	Hypotension	1583	CYP11A1	ORPHA:168558
HP:0002615	Hypotension	5144	PDE4D	ORPHA:439822
HP:0002615	Hypotension	4582	MUC1	OMIM:174000
HP:0002615	Hypotension	788	SLC25A20	ORPHA:159
HP:0002615	Hypotension	788	SLC25A20	OMIM:212138
HP:0002615	Hypotension	213	ALB	OMIM:616000
HP:0002615	Hypotension	29926	GMPPA	ORPHA:869
HP:0002615	Hypotension	60684	TRAPPC11	ORPHA:869
HP:0002615	Hypotension	8086	AAAS	ORPHA:869
HP:0002615	Hypotension	1188	CLCNKB	OMIM:607364
HP:0002615	Hypotension	5626	PROP1	ORPHA:95494
HP:0002615	Hypotension	5626	PROP1	ORPHA:90695
HP:0002615	Hypotension	2736	GLI2	ORPHA:95494
HP:0002615	Hypotension	89884	LHX4	ORPHA:95494
HP:0002615	Hypotension	3170	FOXA2	ORPHA:95494
HP:0002615	Hypotension	5449	POU1F1	ORPHA:95494
HP:0002615	Hypotension	8820	HESX1	ORPHA:95494
HP:0002615	Hypotension	5015	OTX2	ORPHA:95494
HP:0002615	Hypotension	6288	SAA1	ORPHA:85445
HP:0002615	Hypotension	4306	NR3C2	OMIM:177735
HP:0002615	Hypotension	3075	CFH	ORPHA:244242
HP:0002615	Hypotension	3426	CFI	ORPHA:244242
HP:0002615	Hypotension	4179	CD46	ORPHA:244242
HP:0002615	Hypotension	101101692	HELLPAR	ORPHA:244242
HP:0002615	Hypotension	866	SERPINA6	OMIM:611489
HP:0002615	Hypotension	3662	IRF4	ORPHA:3452
HP:0002615	Hypotension	38	ACAT1	ORPHA:134
HP:0002615	Hypotension	6337	SCNN1A	OMIM:264350
HP:0002615	Hypotension	6440	SFTPC	ORPHA:685082
HP:0002615	Hypotension	21	ABCA3	ORPHA:685082
HP:0002615	Hypotension	6439	SFTPB	ORPHA:685082
HP:0002615	Hypotension	9095	TBX19	ORPHA:199296
HP:0002615	Hypotension	6338	SCNN1B	OMIM:620125
HP:0002615	Hypotension	56246	MRAP	ORPHA:361
HP:0002615	Hypotension	6770	STAR	ORPHA:361
HP:0002615	Hypotension	4158	MC2R	ORPHA:361
HP:0002615	Hypotension	23530	NNT	ORPHA:361
HP:0002615	Hypotension	10587	TXNRD2	ORPHA:361
HP:0002615	Hypotension	546	ATRX	ORPHA:100075
HP:0002615	Hypotension	6559	SLC12A3	OMIM:263800
HP:0002615	Hypotension	8942	KYNU	ORPHA:79155
HP:0002615	Hypotension	5052	PRDX1	OMIM:277400
HP:0002615	Hypotension	25974	MMACHC	OMIM:277400
HP:0002615	Hypotension	6658	SOX3	ORPHA:90695
HP:0002615	Hypotension	6557	SLC12A1	OMIM:601678
HP:0002615	Hypotension	3758	KCNJ1	OMIM:241200
HP:0002615	Hypotension	4914	NTRK1	ORPHA:642
HP:0002615	Hypotension	410	ARSA	ORPHA:309271
HP:0002615	Hypotension	5660	PSAP	ORPHA:309271
HP:0002615	Hypotension	3953	LEPR	ORPHA:179494
HP:0002615	Hypotension	2629	GBA1	ORPHA:411602
HP:0002615	Hypotension	23317	DNAJC13	ORPHA:411602
HP:0002615	Hypotension	1981	EIF4G1	ORPHA:411602
HP:0002615	Hypotension	55737	VPS35	ORPHA:411602
HP:0002615	Hypotension	120892	LRRK2	ORPHA:411602
HP:0002615	Hypotension	26058	GIGYF2	ORPHA:411602
HP:0002615	Hypotension	3952	LEP	ORPHA:66628
HP:0002615	Hypotension	7276	TTR	OMIM:105210
HP:0002616	Aortic root aneurysm	10526	IPO8	OMIM:619472
HP:0002616	Aortic root aneurysm	1161	ERCC8	ORPHA:90324
HP:0002616	Aortic root aneurysm	2074	ERCC6	ORPHA:90324
HP:0002616	Aortic root aneurysm	490	ATP2B1	OMIM:619910
HP:0002616	Aortic root aneurysm	8854	ALDH1A2	OMIM:620025
HP:0002616	Aortic root aneurysm	4629	MYH11	ORPHA:229
HP:0002616	Aortic root aneurysm	4629	MYH11	ORPHA:91387
HP:0002616	Aortic root aneurysm	81031	SLC2A10	ORPHA:3342
HP:0002616	Aortic root aneurysm	81031	SLC2A10	OMIM:208050
HP:0002616	Aortic root aneurysm	1788	DNMT3A	ORPHA:404443
HP:0002616	Aortic root aneurysm	2200	FBN1	ORPHA:284979
HP:0002616	Aortic root aneurysm	2200	FBN1	OMIM:129600
HP:0002616	Aortic root aneurysm	2200	FBN1	OMIM:154700
HP:0002616	Aortic root aneurysm	2200	FBN1	OMIM:616914
HP:0002616	Aortic root aneurysm	2200	FBN1	ORPHA:91387
HP:0002616	Aortic root aneurysm	27125	AFF4	ORPHA:444077
HP:0002616	Aortic root aneurysm	23556	PIGN	ORPHA:280633
HP:0002616	Aortic root aneurysm	1278	COL1A2	ORPHA:230851
HP:0002616	Aortic root aneurysm	1289	COL5A1	OMIM:130000
HP:0002616	Aortic root aneurysm	1289	COL5A1	ORPHA:287
HP:0002616	Aortic root aneurysm	2201	FBN2	OMIM:121050
HP:0002616	Aortic root aneurysm	30008	EFEMP2	OMIM:614437
HP:0002616	Aortic root aneurysm	5500	PPP1CB	OMIM:617506
HP:0002616	Aortic root aneurysm	51726	DNAJB11	ORPHA:730
HP:0002616	Aortic root aneurysm	23193	GANAB	ORPHA:730
HP:0002616	Aortic root aneurysm	5310	PKD1	ORPHA:730
HP:0002616	Aortic root aneurysm	5311	PKD2	ORPHA:730
HP:0002616	Aortic root aneurysm	29880	ALG5	ORPHA:730
HP:0002616	Aortic root aneurysm	9742	IFT140	ORPHA:730
HP:0002616	Aortic root aneurysm	79796	ALG9	ORPHA:730
HP:0002616	Aortic root aneurysm	80114	BICC1	ORPHA:730
HP:0002616	Aortic root aneurysm	126792	B3GALT6	ORPHA:536467
HP:0002616	Aortic root aneurysm	126792	B3GALT6	OMIM:615349
HP:0002616	Aortic root aneurysm	3190	HNRNPK	OMIM:616580
HP:0002616	Aortic root aneurysm	2332	FMR1	ORPHA:449291
HP:0002616	Aortic root aneurysm	84665	MYPN	ORPHA:171881
HP:0002616	Aortic root aneurysm	7169	TPM2	ORPHA:171881
HP:0002616	Aortic root aneurysm	7170	TPM3	ORPHA:171881
HP:0002616	Aortic root aneurysm	165	AEBP1	OMIM:618000
HP:0002616	Aortic root aneurysm	165	AEBP1	ORPHA:536532
HP:0002616	Aortic root aneurysm	3756	KCNH1	OMIM:135500
HP:0002616	Aortic root aneurysm	284058	KANSL1	OMIM:610443
HP:0002616	Aortic root aneurysm	7048	TGFBR2	OMIM:610168
HP:0002616	Aortic root aneurysm	7048	TGFBR2	ORPHA:91387
HP:0002616	Aortic root aneurysm	5238	PGM3	OMIM:615816
HP:0002616	Aortic root aneurysm	1277	COL1A1	ORPHA:287
HP:0002616	Aortic root aneurysm	1290	COL5A2	ORPHA:287
HP:0002616	Aortic root aneurysm	9469	CHST3	OMIM:245600
HP:0002616	Aortic root aneurysm	26229	B3GAT3	OMIM:245600
HP:0002616	Aortic root aneurysm	4883	NPR3	OMIM:619543
HP:0002616	Aortic root aneurysm	633	BGN	OMIM:300989
HP:0002616	Aortic root aneurysm	79576	NKAP	OMIM:301039
HP:0002616	Aortic root aneurysm	4015	LOX	OMIM:617168
HP:0002616	Aortic root aneurysm	4015	LOX	ORPHA:91387
HP:0002616	Aortic root aneurysm	833	CARS1	OMIM:618891
HP:0002616	Aortic root aneurysm	7043	TGFB3	OMIM:615582
HP:0002616	Aortic root aneurysm	7043	TGFB3	ORPHA:91387
HP:0002616	Aortic root aneurysm	7543	ZFX	OMIM:301118
HP:0002616	Aortic root aneurysm	54538	ROBO4	OMIM:618496
HP:0002616	Aortic root aneurysm	25	ABL1	OMIM:617602
HP:0002616	Aortic root aneurysm	79875	THSD4	OMIM:619825
HP:0002616	Aortic root aneurysm	79875	THSD4	ORPHA:91387
HP:0002616	Aortic root aneurysm	4281	MID1	ORPHA:2745
HP:0002616	Aortic root aneurysm	4000	LMNA	ORPHA:363618
HP:0002616	Aortic root aneurysm	23384	SPECC1L	OMIM:145420
HP:0002616	Aortic root aneurysm	7046	TGFBR1	OMIM:609192
HP:0002616	Aortic root aneurysm	7046	TGFBR1	ORPHA:91387
HP:0002616	Aortic root aneurysm	5908	RAP1B	OMIM:620654
HP:0002616	Aortic root aneurysm	7042	TGFB2	OMIM:614816
HP:0002616	Aortic root aneurysm	7042	TGFB2	ORPHA:91387
HP:0002616	Aortic root aneurysm	4087	SMAD2	ORPHA:91387
HP:0002616	Aortic root aneurysm	4088	SMAD3	ORPHA:91387
HP:0002616	Aortic root aneurysm	4089	SMAD4	ORPHA:91387
HP:0002616	Aortic root aneurysm	59	ACTA2	ORPHA:91387
HP:0002616	Aortic root aneurysm	5592	PRKG1	ORPHA:91387
HP:0002616	Aortic root aneurysm	2301	FOXE3	ORPHA:91387
HP:0002616	Aortic root aneurysm	4144	MAT2A	ORPHA:91387
HP:0002616	Aortic root aneurysm	23493	HEY2	ORPHA:91387
HP:0002616	Aortic root aneurysm	8076	MFAP5	ORPHA:91387
HP:0002616	Aortic root aneurysm	4638	MYLK	ORPHA:91387
HP:0002616	Aortic root aneurysm	2006	ELN	ORPHA:91387
HP:0002616	Aortic root aneurysm	55901	THSD1	ORPHA:231160
HP:0002616	Aortic root aneurysm	7049	TGFBR3	ORPHA:231160
HP:0002616	Aortic root aneurysm	1281	COL3A1	ORPHA:231160
HP:0002616	Aortic root aneurysm	83854	ANGPTL6	ORPHA:231160
HP:0002616	Aortic root aneurysm	2022	ENG	ORPHA:231160
HP:0002617	Vascular dilatation	1161	ERCC8	ORPHA:90324
HP:0002617	Vascular dilatation	2074	ERCC6	ORPHA:90324
HP:0002617	Vascular dilatation	490	ATP2B1	OMIM:619910
HP:0002617	Vascular dilatation	8854	ALDH1A2	OMIM:620025
HP:0002617	Vascular dilatation	1788	DNMT3A	ORPHA:404443
HP:0002617	Vascular dilatation	27125	AFF4	ORPHA:444077
HP:0002617	Vascular dilatation	23556	PIGN	ORPHA:280633
HP:0002617	Vascular dilatation	1278	COL1A2	ORPHA:230851
HP:0002617	Vascular dilatation	5500	PPP1CB	OMIM:617506
HP:0002617	Vascular dilatation	2332	FMR1	ORPHA:449291
HP:0002617	Vascular dilatation	84665	MYPN	ORPHA:171881
HP:0002617	Vascular dilatation	7169	TPM2	ORPHA:171881
HP:0002617	Vascular dilatation	7170	TPM3	ORPHA:171881
HP:0002617	Vascular dilatation	3756	KCNH1	OMIM:135500
HP:0002617	Vascular dilatation	5238	PGM3	OMIM:615816
HP:0002617	Vascular dilatation	9469	CHST3	OMIM:245600
HP:0002617	Vascular dilatation	26229	B3GAT3	OMIM:245600
HP:0002617	Vascular dilatation	4883	NPR3	OMIM:619543
HP:0002617	Vascular dilatation	79576	NKAP	OMIM:301039
HP:0002617	Vascular dilatation	833	CARS1	OMIM:618891
HP:0002617	Vascular dilatation	7543	ZFX	OMIM:301118
HP:0002617	Vascular dilatation	54538	ROBO4	OMIM:618496
HP:0002617	Vascular dilatation	25	ABL1	OMIM:617602
HP:0002617	Vascular dilatation	4281	MID1	ORPHA:2745
HP:0002617	Vascular dilatation	4000	LMNA	ORPHA:363618
HP:0002617	Vascular dilatation	23384	SPECC1L	OMIM:145420
HP:0002617	Vascular dilatation	5908	RAP1B	OMIM:620654
HP:0002617	Vascular dilatation	4088	SMAD3	ORPHA:284984
HP:0002617	Vascular dilatation	4088	SMAD3	ORPHA:60030
HP:0002617	Vascular dilatation	538	ATP7A	ORPHA:198
HP:0002617	Vascular dilatation	538	ATP7A	ORPHA:565
HP:0002617	Vascular dilatation	1281	COL3A1	OMIM:618343
HP:0002617	Vascular dilatation	1281	COL3A1	ORPHA:286
HP:0002617	Vascular dilatation	8425	LTBP4	OMIM:613177
HP:0002617	Vascular dilatation	81031	SLC2A10	ORPHA:3342
HP:0002617	Vascular dilatation	57167	SALL4	OMIM:607323
HP:0002617	Vascular dilatation	5781	PTPN11	ORPHA:500
HP:0002617	Vascular dilatation	673	BRAF	ORPHA:500
HP:0002617	Vascular dilatation	5894	RAF1	ORPHA:500
HP:0002617	Vascular dilatation	91147	TMEM67	OMIM:216360
HP:0002617	Vascular dilatation	197131	UBR1	OMIM:243800
HP:0002617	Vascular dilatation	11231	SEC63	ORPHA:2924
HP:0002617	Vascular dilatation	5589	PRKCSH	ORPHA:2924
HP:0002617	Vascular dilatation	4041	LRP5	ORPHA:2924
HP:0002617	Vascular dilatation	8481	OFD1	OMIM:311200
HP:0002617	Vascular dilatation	8481	OFD1	ORPHA:2750
HP:0002617	Vascular dilatation	5573	PRKAR1A	ORPHA:615
HP:0002617	Vascular dilatation	6774	STAT3	ORPHA:2314
HP:0002617	Vascular dilatation	5116	PCNT	ORPHA:2637
HP:0002617	Vascular dilatation	4052	LTBP1	ORPHA:90349
HP:0002617	Vascular dilatation	30008	EFEMP2	ORPHA:90349
HP:0002617	Vascular dilatation	10516	FBLN5	ORPHA:90349
HP:0002617	Vascular dilatation	57728	WDR19	OMIM:616307
HP:0002617	Vascular dilatation	5921	RASA1	ORPHA:90307
HP:0002617	Vascular dilatation	59	ACTA2	OMIM:613834
HP:0002617	Vascular dilatation	3593	IL12B	ORPHA:3287
HP:0002617	Vascular dilatation	3106	HLA-B	ORPHA:3287
HP:0002617	Vascular dilatation	6945	MLX	ORPHA:3287
HP:0002617	Vascular dilatation	3110	MNX1	OMIM:176450
HP:0002617	Vascular dilatation	5351	PLOD1	ORPHA:1900
HP:0002617	Vascular dilatation	286204	CRB2	OMIM:219730
HP:0002617	Vascular dilatation	54903	MKS1	OMIM:249000
HP:0002617	Vascular dilatation	5087	PBX1	OMIM:617641
HP:0002617	Vascular dilatation	7046	TGFBR1	ORPHA:60030
HP:0002617	Vascular dilatation	10526	IPO8	ORPHA:60030
HP:0002617	Vascular dilatation	7048	TGFBR2	ORPHA:60030
HP:0002617	Vascular dilatation	7042	TGFB2	ORPHA:60030
HP:0002617	Vascular dilatation	7043	TGFB3	ORPHA:60030
HP:0002617	Vascular dilatation	4087	SMAD2	ORPHA:60030
HP:0002617	Vascular dilatation	51025	PAM16	OMIM:613320
HP:0002617	Vascular dilatation	6663	SOX10	OMIM:611584
HP:0002617	Vascular dilatation	284119	CAVIN1	OMIM:613327
HP:0002617	Vascular dilatation	4878	NPPA	OMIM:615745
HP:0002617	Vascular dilatation	2050	EPHB4	ORPHA:1053
HP:0002617	Vascular dilatation	5193	PEX12	OMIM:614859
HP:0002617	Vascular dilatation	375	ARF1	ORPHA:98892
HP:0002617	Vascular dilatation	4131	MAP1B	ORPHA:98892
HP:0002617	Vascular dilatation	2316	FLNA	ORPHA:98892
HP:0002617	Vascular dilatation	23327	NEDD4L	ORPHA:98892
HP:0002617	Vascular dilatation	160418	TMTC3	ORPHA:98892
HP:0002617	Vascular dilatation	10564	ARFGEF2	ORPHA:98892
HP:0002617	Vascular dilatation	55780	ERMARD	ORPHA:98892
HP:0002617	Vascular dilatation	23118	TAB2	OMIM:614980
HP:0002617	Vascular dilatation	6711	SPTBN1	OMIM:619475
HP:0002617	Vascular dilatation	29957	SLC25A24	OMIM:612289
HP:0002617	Vascular dilatation	4091	SMAD6	OMIM:614823
HP:0002617	Vascular dilatation	3081	HGD	OMIM:203500
HP:0002617	Vascular dilatation	3081	HGD	ORPHA:56
HP:0002617	Vascular dilatation	5728	PTEN	ORPHA:109
HP:0002617	Vascular dilatation	64324	NSD1	ORPHA:821
HP:0002617	Vascular dilatation	10297	APC2	ORPHA:821
HP:0002617	Vascular dilatation	3190	HNRNPK	ORPHA:453504
HP:0002617	Vascular dilatation	3190	HNRNPK	ORPHA:352665
HP:0002617	Vascular dilatation	51611	DPH5	OMIM:620070
HP:0002617	Vascular dilatation	10743	RAI1	ORPHA:477817
HP:0002617	Vascular dilatation	284058	KANSL1	ORPHA:363965
HP:0002617	Vascular dilatation	284058	KANSL1	ORPHA:363958
HP:0002617	Vascular dilatation	54453	RIN2	ORPHA:217335
HP:0002617	Vascular dilatation	54453	RIN2	OMIM:613075
HP:0002617	Vascular dilatation	4854	NOTCH3	OMIM:130720
HP:0002617	Vascular dilatation	613	BCR	ORPHA:261330
HP:0002617	Vascular dilatation	1399	CRKL	ORPHA:261330
HP:0002617	Vascular dilatation	5594	MAPK1	ORPHA:261330
HP:0002617	Vascular dilatation	4638	MYLK	OMIM:613780
HP:0002617	Vascular dilatation	2301	FOXE3	OMIM:617349
HP:0002617	Vascular dilatation	1277	COL1A1	OMIM:166200
HP:0002617	Vascular dilatation	113246	C12orf57	OMIM:218340
HP:0002617	Vascular dilatation	6497	SKI	OMIM:182212
HP:0002617	Vascular dilatation	25885	POLR1A	OMIM:616462
HP:0002617	Vascular dilatation	80204	FBXO11	OMIM:618089
HP:0002617	Vascular dilatation	2006	ELN	ORPHA:90348
HP:0002617	Vascular dilatation	5832	ALDH18A1	ORPHA:90348
HP:0002617	Vascular dilatation	3458	IFNG	ORPHA:805
HP:0002617	Vascular dilatation	7248	TSC1	ORPHA:805
HP:0002617	Vascular dilatation	7249	TSC2	ORPHA:805
HP:0002617	Vascular dilatation	7139	TNNT2	OMIM:612422
HP:0002617	Vascular dilatation	4621	MYH3	ORPHA:2990
HP:0002617	Vascular dilatation	1146	CHRNG	ORPHA:2990
HP:0002617	Vascular dilatation	64127	NOD2	ORPHA:90340
HP:0002617	Vascular dilatation	2317	FLNB	OMIM:150250
HP:0002617	Vascular dilatation	2200	FBN1	OMIM:604308
HP:0002617	Vascular dilatation	10535	RNASEH2A	ORPHA:51
HP:0002617	Vascular dilatation	84153	RNASEH2C	ORPHA:51
HP:0002617	Vascular dilatation	25939	SAMHD1	ORPHA:51
HP:0002617	Vascular dilatation	79621	RNASEH2B	ORPHA:51
HP:0002617	Vascular dilatation	103	ADAR	ORPHA:51
HP:0002617	Vascular dilatation	11277	TREX1	ORPHA:51
HP:0002617	Vascular dilatation	100147744	RNU7-1	ORPHA:51
HP:0002617	Vascular dilatation	134353	LSM11	ORPHA:51
HP:0002617	Vascular dilatation	64135	IFIH1	ORPHA:51
HP:0002617	Vascular dilatation	4089	SMAD4	OMIM:175050
HP:0002617	Vascular dilatation	6874	TAF4	OMIM:620450
HP:0002617	Vascular dilatation	2201	FBN2	ORPHA:115
HP:0002617	Vascular dilatation	51726	DNAJB11	ORPHA:730
HP:0002617	Vascular dilatation	23193	GANAB	ORPHA:730
HP:0002617	Vascular dilatation	23193	GANAB	OMIM:600666
HP:0002617	Vascular dilatation	5310	PKD1	ORPHA:730
HP:0002617	Vascular dilatation	5311	PKD2	ORPHA:730
HP:0002617	Vascular dilatation	29880	ALG5	ORPHA:730
HP:0002617	Vascular dilatation	9742	IFT140	ORPHA:730
HP:0002617	Vascular dilatation	79796	ALG9	ORPHA:730
HP:0002617	Vascular dilatation	80114	BICC1	ORPHA:730
HP:0002617	Vascular dilatation	6772	STAT1	ORPHA:391487
HP:0002617	Vascular dilatation	2548	GAA	OMIM:232300
HP:0002617	Vascular dilatation	1282	COL4A1	OMIM:611773
HP:0002617	Vascular dilatation	4629	MYH11	ORPHA:229
HP:0002617	Vascular dilatation	4629	MYH11	ORPHA:91387
HP:0002617	Vascular dilatation	10056	FARSB	OMIM:613658
HP:0002617	Vascular dilatation	4796	TONSL	ORPHA:93357
HP:0002617	Vascular dilatation	2677	GGCX	ORPHA:91135
HP:0002617	Vascular dilatation	1289	COL5A1	ORPHA:287
HP:0002617	Vascular dilatation	1289	COL5A1	OMIM:619329
HP:0002617	Vascular dilatation	1290	COL5A2	ORPHA:287
HP:0002617	Vascular dilatation	633	BGN	OMIM:300989
HP:0002617	Vascular dilatation	8985	PLOD3	OMIM:612394
HP:0002617	Vascular dilatation	335	APOA1	OMIM:620657
HP:0002617	Vascular dilatation	4763	NF1	ORPHA:97685
HP:0002617	Vascular dilatation	4015	LOX	ORPHA:91387
HP:0002617	Vascular dilatation	5592	PRKG1	ORPHA:91387
HP:0002617	Vascular dilatation	4144	MAT2A	ORPHA:91387
HP:0002617	Vascular dilatation	23493	HEY2	ORPHA:91387
HP:0002617	Vascular dilatation	8076	MFAP5	ORPHA:91387
HP:0002617	Vascular dilatation	79875	THSD4	ORPHA:91387
HP:0002617	Vascular dilatation	50940	PDE11A	ORPHA:1359
HP:0002617	Vascular dilatation	10269	ZMPSTE24	ORPHA:1662
HP:0002617	Vascular dilatation	7058	THBS2	OMIM:620865
HP:0002617	Vascular dilatation	9968	MED12	OMIM:309520
HP:0002617	Vascular dilatation	171019	ADAMTS19	OMIM:620067
HP:0002617	Vascular dilatation	4838	NODAL	OMIM:270100
HP:0002617	Vascular dilatation	2972	BRF1	ORPHA:444072
HP:0002617	Vascular dilatation	2703	GJA8	OMIM:612474
HP:0002617	Vascular dilatation	2702	GJA5	OMIM:612474
HP:0002617	Vascular dilatation	523	ATP6V1A	OMIM:617403
HP:0002617	Vascular dilatation	4067	LYN	OMIM:620376
HP:0002617	Vascular dilatation	26191	PTPN22	ORPHA:397
HP:0002617	Vascular dilatation	3123	HLA-DRB1	ORPHA:397
HP:0002617	Vascular dilatation	8974	P4HA2	ORPHA:397
HP:0002617	Vascular dilatation	286053	NSMCE2	OMIM:617253
HP:0002617	Vascular dilatation	6804	STX1A	ORPHA:904
HP:0002617	Vascular dilatation	7461	CLIP2	ORPHA:904
HP:0002617	Vascular dilatation	84277	DNAJC30	ORPHA:904
HP:0002617	Vascular dilatation	8468	FKBP6	ORPHA:904
HP:0002617	Vascular dilatation	5982	RFC2	ORPHA:904
HP:0002617	Vascular dilatation	2969	GTF2I	ORPHA:904
HP:0002617	Vascular dilatation	3984	LIMK1	ORPHA:904
HP:0002617	Vascular dilatation	9569	GTF2IRD1	ORPHA:904
HP:0002617	Vascular dilatation	155382	VPS37D	ORPHA:904
HP:0002617	Vascular dilatation	155368	METTL27	ORPHA:904
HP:0002617	Vascular dilatation	114049	BUD23	ORPHA:904
HP:0002617	Vascular dilatation	7458	EIF4H	ORPHA:904
HP:0002617	Vascular dilatation	84163	GTF2IRD2	ORPHA:904
HP:0002617	Vascular dilatation	26608	TBL2	ORPHA:904
HP:0002617	Vascular dilatation	653361	NCF1	ORPHA:904
HP:0002617	Vascular dilatation	135886	TMEM270	ORPHA:904
HP:0002617	Vascular dilatation	9031	BAZ1B	ORPHA:904
HP:0002617	Vascular dilatation	4851	NOTCH1	ORPHA:402075
HP:0002617	Vascular dilatation	1482	NKX2-5	ORPHA:402075
HP:0002617	Vascular dilatation	140628	GATA5	ORPHA:402075
HP:0002617	Vascular dilatation	5590	PRKCZ	ORPHA:1606
HP:0002617	Vascular dilatation	2563	GABRD	ORPHA:1606
HP:0002617	Vascular dilatation	23013	SPEN	ORPHA:1606
HP:0002617	Vascular dilatation	8510	MMP23B	ORPHA:1606
HP:0002617	Vascular dilatation	7798	LUZP1	ORPHA:1606
HP:0002617	Vascular dilatation	10630	PDPN	ORPHA:1606
HP:0002617	Vascular dilatation	3339	HSPG2	ORPHA:1606
HP:0002617	Vascular dilatation	10277	UBE4B	ORPHA:1606
HP:0002617	Vascular dilatation	8514	KCNAB2	ORPHA:1606
HP:0002617	Vascular dilatation	473	RERE	ORPHA:1606
HP:0002617	Vascular dilatation	63976	PRDM16	ORPHA:1606
HP:0002617	Vascular dilatation	54897	CASZ1	ORPHA:1606
HP:0002617	Vascular dilatation	55636	CHD7	ORPHA:138
HP:0002617	Vascular dilatation	9723	SEMA3E	ORPHA:138
HP:0002617	Vascular dilatation	5318	PKP2	OMIM:609040
HP:0002617	Vascular dilatation	54820	NDE1	ORPHA:2177
HP:0002617	Vascular dilatation	29925	GMPPB	ORPHA:363623
HP:0002617	Vascular dilatation	6134	RPL10	ORPHA:459070
HP:0002617	Vascular dilatation	54914	FOCAD	OMIM:619991
HP:0002617	Vascular dilatation	55901	THSD1	OMIM:618734
HP:0002617	Vascular dilatation	55901	THSD1	ORPHA:231160
HP:0002617	Vascular dilatation	7049	TGFBR3	ORPHA:231160
HP:0002617	Vascular dilatation	83854	ANGPTL6	ORPHA:231160
HP:0002617	Vascular dilatation	2022	ENG	OMIM:187300
HP:0002617	Vascular dilatation	126792	B3GALT6	ORPHA:536467
HP:0002617	Vascular dilatation	165	AEBP1	OMIM:618000
HP:0002617	Vascular dilatation	529	ATP6V1E1	OMIM:617402
HP:0002617	Vascular dilatation	2131	EXT1	ORPHA:321
HP:0002617	Vascular dilatation	2132	EXT2	ORPHA:321
HP:0004944	Dilatation of the cerebral artery	1281	COL3A1	OMIM:130050
HP:0004944	Dilatation of the cerebral artery	4088	SMAD3	ORPHA:284984
HP:0004944	Dilatation of the cerebral artery	4088	SMAD3	OMIM:613795
HP:0004944	Dilatation of the cerebral artery	4088	SMAD3	ORPHA:91387
HP:0004944	Dilatation of the cerebral artery	51726	DNAJB11	ORPHA:730
HP:0004944	Dilatation of the cerebral artery	23193	GANAB	ORPHA:730
HP:0004944	Dilatation of the cerebral artery	23193	GANAB	OMIM:600666
HP:0004944	Dilatation of the cerebral artery	5310	PKD1	ORPHA:730
HP:0004944	Dilatation of the cerebral artery	5311	PKD2	ORPHA:730
HP:0004944	Dilatation of the cerebral artery	29880	ALG5	ORPHA:730
HP:0004944	Dilatation of the cerebral artery	9742	IFT140	ORPHA:730
HP:0004944	Dilatation of the cerebral artery	79796	ALG9	ORPHA:730
HP:0004944	Dilatation of the cerebral artery	80114	BICC1	ORPHA:730
HP:0004944	Dilatation of the cerebral artery	6772	STAT1	ORPHA:391487
HP:0004944	Dilatation of the cerebral artery	10526	IPO8	OMIM:619472
HP:0004944	Dilatation of the cerebral artery	6711	SPTBN1	OMIM:619475
HP:0004944	Dilatation of the cerebral artery	2548	GAA	OMIM:232300
HP:0004944	Dilatation of the cerebral artery	4087	SMAD2	OMIM:619656
HP:0004944	Dilatation of the cerebral artery	4087	SMAD2	ORPHA:91387
HP:0004944	Dilatation of the cerebral artery	1282	COL4A1	OMIM:611773
HP:0004944	Dilatation of the cerebral artery	7048	TGFBR2	OMIM:610168
HP:0004944	Dilatation of the cerebral artery	7048	TGFBR2	ORPHA:91387
HP:0004944	Dilatation of the cerebral artery	4629	MYH11	ORPHA:229
HP:0004944	Dilatation of the cerebral artery	4629	MYH11	ORPHA:91387
HP:0004944	Dilatation of the cerebral artery	59	ACTA2	OMIM:613834
HP:0004944	Dilatation of the cerebral artery	59	ACTA2	ORPHA:91387
HP:0004944	Dilatation of the cerebral artery	10056	FARSB	OMIM:613658
HP:0004944	Dilatation of the cerebral artery	5589	PRKCSH	OMIM:174050
HP:0004944	Dilatation of the cerebral artery	5589	PRKCSH	ORPHA:2924
HP:0004944	Dilatation of the cerebral artery	4796	TONSL	ORPHA:93357
HP:0004944	Dilatation of the cerebral artery	2677	GGCX	ORPHA:91135
HP:0004944	Dilatation of the cerebral artery	1277	COL1A1	ORPHA:287
HP:0004944	Dilatation of the cerebral artery	1289	COL5A1	ORPHA:287
HP:0004944	Dilatation of the cerebral artery	1289	COL5A1	OMIM:619329
HP:0004944	Dilatation of the cerebral artery	1290	COL5A2	ORPHA:287
HP:0004944	Dilatation of the cerebral artery	633	BGN	OMIM:300989
HP:0004944	Dilatation of the cerebral artery	8985	PLOD3	OMIM:612394
HP:0004944	Dilatation of the cerebral artery	11231	SEC63	ORPHA:2924
HP:0004944	Dilatation of the cerebral artery	4041	LRP5	ORPHA:2924
HP:0004944	Dilatation of the cerebral artery	7046	TGFBR1	OMIM:609192
HP:0004944	Dilatation of the cerebral artery	7046	TGFBR1	ORPHA:91387
HP:0004944	Dilatation of the cerebral artery	335	APOA1	OMIM:620657
HP:0004944	Dilatation of the cerebral artery	5116	PCNT	OMIM:210720
HP:0004944	Dilatation of the cerebral artery	5573	PRKAR1A	ORPHA:615
HP:0004944	Dilatation of the cerebral artery	5573	PRKAR1A	ORPHA:1359
HP:0004944	Dilatation of the cerebral artery	7042	TGFB2	OMIM:614816
HP:0004944	Dilatation of the cerebral artery	7042	TGFB2	ORPHA:91387
HP:0004944	Dilatation of the cerebral artery	4763	NF1	ORPHA:97685
HP:0004944	Dilatation of the cerebral artery	4015	LOX	ORPHA:91387
HP:0004944	Dilatation of the cerebral artery	7043	TGFB3	ORPHA:91387
HP:0004944	Dilatation of the cerebral artery	4089	SMAD4	ORPHA:91387
HP:0004944	Dilatation of the cerebral artery	2200	FBN1	ORPHA:91387
HP:0004944	Dilatation of the cerebral artery	5592	PRKG1	ORPHA:91387
HP:0004944	Dilatation of the cerebral artery	2301	FOXE3	ORPHA:91387
HP:0004944	Dilatation of the cerebral artery	4144	MAT2A	ORPHA:91387
HP:0004944	Dilatation of the cerebral artery	23493	HEY2	ORPHA:91387
HP:0004944	Dilatation of the cerebral artery	8076	MFAP5	ORPHA:91387
HP:0004944	Dilatation of the cerebral artery	4638	MYLK	ORPHA:91387
HP:0004944	Dilatation of the cerebral artery	79875	THSD4	ORPHA:91387
HP:0004944	Dilatation of the cerebral artery	2006	ELN	ORPHA:91387
HP:0004944	Dilatation of the cerebral artery	50940	PDE11A	ORPHA:1359
HP:0004944	Dilatation of the cerebral artery	55901	THSD1	OMIM:618734
HP:0004944	Dilatation of the cerebral artery	55901	THSD1	ORPHA:231160
HP:0004944	Dilatation of the cerebral artery	7049	TGFBR3	ORPHA:231160
HP:0004944	Dilatation of the cerebral artery	83854	ANGPTL6	ORPHA:231160
HP:0004944	Dilatation of the cerebral artery	2022	ENG	ORPHA:231160
HP:0002619	Varicose veins	1281	COL3A1	OMIM:130050
HP:0002619	Varicose veins	1281	COL3A1	OMIM:618343
HP:0002619	Varicose veins	1281	COL3A1	ORPHA:286
HP:0002619	Varicose veins	7428	VHL	OMIM:263400
HP:0002619	Varicose veins	2629	GBA1	ORPHA:2072
HP:0002619	Varicose veins	9158	FIBP	ORPHA:500095
HP:0002619	Varicose veins	9158	FIBP	OMIM:617107
HP:0002619	Varicose veins	165	AEBP1	OMIM:618000
HP:0002619	Varicose veins	165	AEBP1	ORPHA:536532
HP:0002619	Varicose veins	9780	PIEZO1	OMIM:616843
HP:0002619	Varicose veins	9780	PIEZO1	ORPHA:79452
HP:0002619	Varicose veins	92579	G6PC3	OMIM:612541
HP:0002619	Varicose veins	4088	SMAD3	OMIM:613795
HP:0002619	Varicose veins	4087	SMAD2	OMIM:619656
HP:0002619	Varicose veins	5921	RASA1	ORPHA:90307
HP:0002619	Varicose veins	2303	FOXC2	ORPHA:33001
HP:0002619	Varicose veins	2303	FOXC2	OMIM:153400
HP:0002619	Varicose veins	2050	EPHB4	ORPHA:90186
HP:0002619	Varicose veins	2050	EPHB4	OMIM:617300
HP:0002619	Varicose veins	1312	COMT	ORPHA:567
HP:0002619	Varicose veins	221037	JMJD1C	ORPHA:567
HP:0002619	Varicose veins	2812	GP1BB	ORPHA:567
HP:0002619	Varicose veins	6239	RREB1	ORPHA:567
HP:0002619	Varicose veins	6899	TBX1	ORPHA:567
HP:0002619	Varicose veins	7290	HIRA	ORPHA:567
HP:0002619	Varicose veins	9632	SEC24C	ORPHA:567
HP:0002619	Varicose veins	7353	UFD1	ORPHA:567
HP:0002619	Varicose veins	421	ARVCF	ORPHA:567
HP:0002619	Varicose veins	55315	SLC29A3	OMIM:602782
HP:0002619	Varicose veins	55315	SLC29A3	ORPHA:168569
HP:0002619	Varicose veins	3798	KIF5A	ORPHA:100991
HP:0002619	Varicose veins	5290	PIK3CA	OMIM:613089
HP:0002619	Varicose veins	5290	PIK3CA	ORPHA:168984
HP:0002619	Varicose veins	7042	TGFB2	OMIM:614816
HP:0002619	Varicose veins	2324	FLT4	ORPHA:79452
HP:0002619	Varicose veins	285	ANGPT2	ORPHA:79452
HP:0002619	Varicose veins	57165	GJC2	ORPHA:79452
HP:0002619	Varicose veins	1188	CLCNKB	ORPHA:358
HP:0002619	Varicose veins	6559	SLC12A3	ORPHA:358
HP:0002619	Varicose veins	4854	NOTCH3	OMIM:125310
HP:0002619	Varicose veins	2022	ENG	OMIM:187300
HP:0002663	Delayed epiphyseal ossification	1311	COMP	ORPHA:750
HP:0002663	Delayed epiphyseal ossification	1311	COMP	OMIM:177170
HP:0002663	Delayed epiphyseal ossification	1311	COMP	OMIM:132400
HP:0002663	Delayed epiphyseal ossification	1311	COMP	ORPHA:93308
HP:0002663	Delayed epiphyseal ossification	9361	LONP1	OMIM:600373
HP:0002663	Delayed epiphyseal ossification	3835	KIF22	ORPHA:93360
HP:0002663	Delayed epiphyseal ossification	65992	DDRGK1	OMIM:602557
HP:0002663	Delayed epiphyseal ossification	65992	DDRGK1	ORPHA:93352
HP:0002663	Delayed epiphyseal ossification	1184	CLCN5	OMIM:300554
HP:0002663	Delayed epiphyseal ossification	1184	CLCN5	OMIM:300009
HP:0002663	Delayed epiphyseal ossification	142680	SLC34A3	OMIM:241530
HP:0002663	Delayed epiphyseal ossification	1594	CYP27B1	ORPHA:289157
HP:0002663	Delayed epiphyseal ossification	1594	CYP27B1	OMIM:264700
HP:0002663	Delayed epiphyseal ossification	120227	CYP2R1	ORPHA:289157
HP:0002663	Delayed epiphyseal ossification	120227	CYP2R1	OMIM:600081
HP:0002663	Delayed epiphyseal ossification	55699	IARS2	OMIM:616007
HP:0002663	Delayed epiphyseal ossification	100151683	RNU4ATAC	OMIM:210710
HP:0002663	Delayed epiphyseal ossification	23761	PISD	OMIM:618889
HP:0002663	Delayed epiphyseal ossification	4796	TONSL	ORPHA:93357
HP:0002663	Delayed epiphyseal ossification	59341	TRPV4	ORPHA:93314
HP:0002663	Delayed epiphyseal ossification	5745	PTH1R	ORPHA:79106
HP:0002663	Delayed epiphyseal ossification	5745	PTH1R	OMIM:600002
HP:0002663	Delayed epiphyseal ossification	1280	COL2A1	ORPHA:485
HP:0002663	Delayed epiphyseal ossification	1280	COL2A1	OMIM:156550
HP:0002663	Delayed epiphyseal ossification	2099	ESR1	ORPHA:785
HP:0002663	Delayed epiphyseal ossification	3636	INPPL1	OMIM:258480
HP:0002663	Delayed epiphyseal ossification	1299	COL9A3	OMIM:600969
HP:0002663	Delayed epiphyseal ossification	51025	PAM16	OMIM:613320
HP:0002663	Delayed epiphyseal ossification	7421	VDR	OMIM:277440
HP:0002663	Delayed epiphyseal ossification	406932	MIR140	OMIM:618618
HP:0002663	Delayed epiphyseal ossification	6662	SOX9	OMIM:114290
HP:0002663	Delayed epiphyseal ossification	2263	FGFR2	OMIM:101200
HP:0002663	Delayed epiphyseal ossification	1588	CYP19A1	ORPHA:91
HP:0002663	Delayed epiphyseal ossification	374654	KIF7	ORPHA:166024
HP:0002663	Delayed epiphyseal ossification	2879	GPX4	OMIM:250220
HP:0002663	Delayed epiphyseal ossification	3756	KCNH1	ORPHA:420561
HP:0002663	Delayed epiphyseal ossification	5626	PROP1	ORPHA:226307
HP:0002663	Delayed epiphyseal ossification	89884	LHX4	ORPHA:226307
HP:0002663	Delayed epiphyseal ossification	8022	LHX3	ORPHA:226307
HP:0002663	Delayed epiphyseal ossification	5449	POU1F1	ORPHA:226307
HP:0002663	Delayed epiphyseal ossification	8820	HESX1	ORPHA:226307
HP:0002663	Delayed epiphyseal ossification	405753	DUOXA2	ORPHA:95716
HP:0002663	Delayed epiphyseal ossification	6528	SLC5A5	ORPHA:95716
HP:0002663	Delayed epiphyseal ossification	7038	TG	ORPHA:95716
HP:0002663	Delayed epiphyseal ossification	7173	TPO	ORPHA:95716
HP:0002663	Delayed epiphyseal ossification	389434	IYD	ORPHA:95716
HP:0002663	Delayed epiphyseal ossification	50506	DUOX2	ORPHA:95716
HP:0002663	Delayed epiphyseal ossification	4148	MATN3	ORPHA:93311
HP:0002663	Delayed epiphyseal ossification	7253	TSHR	ORPHA:90673
HP:0002663	Delayed epiphyseal ossification	7252	TSHB	ORPHA:90674
HP:0002663	Delayed epiphyseal ossification	126792	B3GALT6	OMIM:271640
HP:0002253	Colonic diverticula	4292	MLH1	OMIM:158320
HP:0002253	Colonic diverticula	4436	MSH2	OMIM:158320
HP:0002253	Colonic diverticula	5979	RET	OMIM:162300
HP:0002253	Colonic diverticula	5728	PTEN	OMIM:158350
HP:0002253	Colonic diverticula	197131	UBR1	OMIM:243800
HP:0002253	Colonic diverticula	6774	STAT3	OMIM:147060
HP:0002253	Colonic diverticula	5310	PKD1	OMIM:173900
HP:0002253	Colonic diverticula	5290	PIK3CA	OMIM:615108
HP:0002253	Colonic diverticula	207	AKT1	OMIM:615109
HP:0002253	Colonic diverticula	6804	STX1A	ORPHA:904
HP:0002253	Colonic diverticula	7461	CLIP2	ORPHA:904
HP:0002253	Colonic diverticula	84277	DNAJC30	ORPHA:904
HP:0002253	Colonic diverticula	8468	FKBP6	ORPHA:904
HP:0002253	Colonic diverticula	5982	RFC2	ORPHA:904
HP:0002253	Colonic diverticula	2969	GTF2I	ORPHA:904
HP:0002253	Colonic diverticula	3984	LIMK1	ORPHA:904
HP:0002253	Colonic diverticula	9569	GTF2IRD1	ORPHA:904
HP:0002253	Colonic diverticula	155382	VPS37D	ORPHA:904
HP:0002253	Colonic diverticula	155368	METTL27	ORPHA:904
HP:0002253	Colonic diverticula	114049	BUD23	ORPHA:904
HP:0002253	Colonic diverticula	7458	EIF4H	ORPHA:904
HP:0002253	Colonic diverticula	84163	GTF2IRD2	ORPHA:904
HP:0002253	Colonic diverticula	26608	TBL2	ORPHA:904
HP:0002253	Colonic diverticula	653361	NCF1	ORPHA:904
HP:0002253	Colonic diverticula	135886	TMEM270	ORPHA:904
HP:0002253	Colonic diverticula	9031	BAZ1B	ORPHA:904
HP:0002253	Colonic diverticula	2006	ELN	ORPHA:904
HP:0002253	Colonic diverticula	2006	ELN	OMIM:194050
HP:0002253	Colonic diverticula	2065	ERBB3	OMIM:243180
HP:0002253	Colonic diverticula	1890	TYMP	OMIM:603041
HP:0002253	Colonic diverticula	5428	POLG	OMIM:603041
HP:0002253	Colonic diverticula	51085	MLXIPL	OMIM:194050
HP:0002253	Colonic diverticula	2202	EFEMP1	OMIM:620780
HP:0004977	Bilateral radial aplasia	10262	SF3B4	OMIM:154400
HP:0004977	Bilateral radial aplasia	9939	RBM8A	OMIM:274000
HP:0004977	Bilateral radial aplasia	2187	FANCB	OMIM:300514
HP:0005871	Metaphyseal chondrodysplasia	9131	AIFM1	ORPHA:83629
HP:0005871	Metaphyseal chondrodysplasia	6023	RMRP	ORPHA:175
HP:0005871	Metaphyseal chondrodysplasia	1300	COL10A1	OMIM:156500
HP:0005871	Metaphyseal chondrodysplasia	5745	PTH1R	OMIM:156400
HP:0005871	Metaphyseal chondrodysplasia	6729	SRP54	OMIM:260400
HP:0005871	Metaphyseal chondrodysplasia	51119	SBDS	OMIM:260400
HP:0005871	Metaphyseal chondrodysplasia	51119	SBDS	ORPHA:811
HP:0005871	Metaphyseal chondrodysplasia	134218	DNAJC21	OMIM:260400
HP:0005871	Metaphyseal chondrodysplasia	134218	DNAJC21	ORPHA:811
HP:0005871	Metaphyseal chondrodysplasia	2879	GPX4	ORPHA:93317
HP:0005871	Metaphyseal chondrodysplasia	2261	FGFR3	ORPHA:85165
HP:0005871	Metaphyseal chondrodysplasia	10013	HDAC6	ORPHA:163966
HP:0005871	Metaphyseal chondrodysplasia	10283	CWC27	OMIM:250410
HP:0005871	Metaphyseal chondrodysplasia	10283	CWC27	ORPHA:166035
HP:0005871	Metaphyseal chondrodysplasia	10195	ALG3	ORPHA:79321
HP:0005871	Metaphyseal chondrodysplasia	4322	MMP13	OMIM:250400
HP:0005871	Metaphyseal chondrodysplasia	4322	MMP13	ORPHA:2501
HP:0005871	Metaphyseal chondrodysplasia	79631	EFL1	ORPHA:811
HP:0005873	Polysyndactyly of hallux	4750	NEK1	ORPHA:2751
HP:0005873	Polysyndactyly of hallux	4750	NEK1	OMIM:263520
HP:0001217	Clubbing	94	ACVRL1	OMIM:600376
HP:0001217	Clubbing	6340	SCNN1G	ORPHA:60033
HP:0001217	Clubbing	1080	CFTR	ORPHA:60033
HP:0001217	Clubbing	6337	SCNN1A	ORPHA:60033
HP:0001217	Clubbing	6338	SCNN1B	ORPHA:60033
HP:0001217	Clubbing	3659	IRF1	OMIM:620668
HP:0001217	Clubbing	3123	HLA-DRB1	ORPHA:747
HP:0001217	Clubbing	3123	HLA-DRB1	OMIM:181000
HP:0001217	Clubbing	3248	HPGD	OMIM:259100
HP:0001217	Clubbing	3248	HPGD	OMIM:119900
HP:0001217	Clubbing	8318	CDC45	OMIM:617063
HP:0001217	Clubbing	4141	MARS1	OMIM:615486
HP:0001217	Clubbing	65082	VPS33A	OMIM:617303
HP:0001217	Clubbing	55072	RNF31	OMIM:620632
HP:0001217	Clubbing	6925	TCF4	OMIM:610954
HP:0001217	Clubbing	6440	SFTPC	OMIM:610913
HP:0001217	Clubbing	6439	SFTPB	OMIM:265120
HP:0001217	Clubbing	2022	ENG	OMIM:187300
HP:0001217	Clubbing	5422	POLA1	OMIM:301220
HP:0001217	Clubbing	653509	SFTPA1	OMIM:619611
HP:0001217	Clubbing	657	BMPR1A	OMIM:174900
HP:0001217	Clubbing	4089	SMAD4	OMIM:174900
HP:0001217	Clubbing	4089	SMAD4	OMIM:175050
HP:0001217	Clubbing	6578	SLCO2A1	OMIM:614441
HP:0001217	Clubbing	738	VPS51	OMIM:618606
HP:0001217	Clubbing	56244	BTNL2	OMIM:612387
HP:0001217	Clubbing	3572	IL6ST	OMIM:618523
HP:0001217	Clubbing	6794	STK11	OMIM:175200
HP:0001217	Clubbing	3868	KRT16	ORPHA:2199
HP:0001217	Clubbing	3857	KRT9	ORPHA:2199
HP:0001217	Clubbing	3848	KRT1	ORPHA:2199
HP:0001217	Clubbing	404672	GTF2H5	ORPHA:33364
HP:0001217	Clubbing	833	CARS1	ORPHA:33364
HP:0001217	Clubbing	2068	ERCC2	ORPHA:33364
HP:0001217	Clubbing	7737	RNF113A	ORPHA:33364
HP:0001217	Clubbing	136647	MPLKIP	ORPHA:33364
HP:0001217	Clubbing	6897	TARS1	ORPHA:33364
HP:0001217	Clubbing	16	AARS1	ORPHA:33364
HP:0001217	Clubbing	2071	ERCC3	ORPHA:33364
HP:0001217	Clubbing	2961	GTF2E2	ORPHA:33364
HP:0001217	Clubbing	25913	POT1	OMIM:620367
HP:0001217	Clubbing	21	ABCA3	OMIM:610921
HP:0001217	Clubbing	2317	FLNB	OMIM:108720
HP:0001217	Clubbing	3858	KRT10	OMIM:609165
HP:0001217	Clubbing	25981	DNAH1	ORPHA:244
HP:0001217	Clubbing	115948	ODAD3	ORPHA:244
HP:0001217	Clubbing	54768	HYDIN	ORPHA:244
HP:0001217	Clubbing	352909	DNAAF3	ORPHA:244
HP:0001217	Clubbing	27148	STK36	ORPHA:244
HP:0001217	Clubbing	51314	NME8	ORPHA:244
HP:0001217	Clubbing	92749	DRC1	ORPHA:244
HP:0001217	Clubbing	54970	TTC12	ORPHA:244
HP:0001217	Clubbing	152110	NEK10	ORPHA:244
HP:0001217	Clubbing	8481	OFD1	ORPHA:244
HP:0001217	Clubbing	2302	FOXJ1	ORPHA:244
HP:0001217	Clubbing	221421	RSPH9	ORPHA:244
HP:0001217	Clubbing	85478	CCDC65	ORPHA:244
HP:0001217	Clubbing	55036	CCDC40	ORPHA:244
HP:0001217	Clubbing	51364	ZMYND10	ORPHA:244
HP:0001217	Clubbing	64446	DNAI2	ORPHA:244
HP:0001217	Clubbing	8382	NME5	ORPHA:244
HP:0001217	Clubbing	6674	SPAG1	ORPHA:244
HP:0001217	Clubbing	83544	DNAL1	ORPHA:244
HP:0001217	Clubbing	89765	RSPH1	ORPHA:244
HP:0001217	Clubbing	83538	ODAD4	ORPHA:244
HP:0001217	Clubbing	200373	CFAP221	ORPHA:244
HP:0001217	Clubbing	374407	DNAJB13	ORPHA:244
HP:0001217	Clubbing	55172	DNAAF2	ORPHA:244
HP:0001217	Clubbing	161582	DNAAF4	ORPHA:244
HP:0001217	Clubbing	2622	GAS8	ORPHA:244
HP:0001217	Clubbing	23639	DNAAF11	ORPHA:244
HP:0001217	Clubbing	27019	DNAI1	ORPHA:244
HP:0001217	Clubbing	345895	RSPH4A	ORPHA:244
HP:0001217	Clubbing	54919	DNAAF5	ORPHA:244
HP:0001217	Clubbing	6103	RPGR	ORPHA:244
HP:0001217	Clubbing	85452	CFAP74	ORPHA:244
HP:0001217	Clubbing	93233	ODAD1	ORPHA:244
HP:0001217	Clubbing	55130	ODAD2	ORPHA:244
HP:0001217	Clubbing	1767	DNAH5	ORPHA:244
HP:0001217	Clubbing	83861	RSPH3	ORPHA:244
HP:0001217	Clubbing	345643	MCIDAS	ORPHA:244
HP:0001217	Clubbing	56683	CFAP298	ORPHA:244
HP:0001217	Clubbing	79925	SPEF2	ORPHA:244
HP:0001217	Clubbing	10309	CCNO	ORPHA:244
HP:0001217	Clubbing	115399	LRRC56	ORPHA:244
HP:0001217	Clubbing	139212	DNAAF6	ORPHA:244
HP:0001217	Clubbing	123872	DNAAF1	ORPHA:244
HP:0001217	Clubbing	85016	CFAP300	ORPHA:244
HP:0001217	Clubbing	339829	CCDC39	ORPHA:244
HP:0001217	Clubbing	8701	DNAH11	ORPHA:244
HP:0001217	Clubbing	1770	DNAH9	ORPHA:244
HP:0001217	Clubbing	246176	GAS2L2	ORPHA:244
HP:0001217	Clubbing	26154	ABCA12	OMIM:601277
HP:0001217	Clubbing	56916	SMARCAD1	OMIM:136000
HP:0001217	Clubbing	1604	CD55	OMIM:226300
HP:0001217	Clubbing	3977	LIFR	OMIM:601559
HP:0001217	Clubbing	5567	PRKACB	OMIM:619143
HP:0001217	Clubbing	7543	ZFX	OMIM:301118
HP:0001217	Clubbing	10892	MALT1	OMIM:615468
HP:0001217	Clubbing	3187	HNRNPH1	OMIM:620083
HP:0001217	Clubbing	2212	FCGR2A	OMIM:219700
HP:0001217	Clubbing	7040	TGFB1	OMIM:219700
HP:0001217	Clubbing	3071	NCKAP1L	OMIM:618982
HP:0001217	Clubbing	5745	PTH1R	OMIM:156400
HP:0001217	Clubbing	114548	NLRP3	OMIM:191900
HP:0001217	Clubbing	182	JAG1	OMIM:619574
HP:0001217	Clubbing	7015	TERT	OMIM:614742
HP:0001217	Clubbing	7015	TERT	ORPHA:2032
HP:0001217	Clubbing	7015	TERT	OMIM:178500
HP:0001217	Clubbing	987	LRBA	OMIM:614700
HP:0001217	Clubbing	729238	SFTPA2	ORPHA:2032
HP:0001217	Clubbing	729238	SFTPA2	OMIM:178500
HP:0001217	Clubbing	79991	STN1	ORPHA:2032
HP:0001217	Clubbing	1832	DSP	ORPHA:2032
HP:0001217	Clubbing	1832	DSP	OMIM:605676
HP:0001217	Clubbing	727897	MUC5B	ORPHA:2032
HP:0001217	Clubbing	727897	MUC5B	OMIM:178500
HP:0001217	Clubbing	10144	FAM13A	ORPHA:2032
HP:0001217	Clubbing	23250	ATP11A	ORPHA:2032
HP:0001217	Clubbing	91039	DPP9	ORPHA:2032
HP:0001217	Clubbing	51750	RTEL1	ORPHA:2032
HP:0001217	Clubbing	7012	TERC	ORPHA:2032
HP:0001217	Clubbing	5073	PARN	ORPHA:2032
HP:0001217	Clubbing	3339	HSPG2	ORPHA:1865
HP:0001217	Clubbing	10804	GJB6	ORPHA:189
HP:0001217	Clubbing	440275	EIF2AK4	ORPHA:199241
HP:0001217	Clubbing	10568	SLC34A2	ORPHA:60025
HP:0001217	Clubbing	8884	SLC5A6	OMIM:618973
HP:0001217	Clubbing	10125	RASGRP1	OMIM:618534
HP:0001217	Clubbing	59067	IL21	OMIM:615767
HP:0001217	Clubbing	5728	PTEN	ORPHA:79076
HP:0001217	Clubbing	5696	PSMB8	OMIM:256040
HP:0001217	Clubbing	27152	INTU	OMIM:617926
HP:0001217	Clubbing	7092	TLL1	ORPHA:99106
HP:0001217	Clubbing	6595	SMARCA2	ORPHA:3051
HP:0001217	Clubbing	7319	UBE2A	ORPHA:163956
HP:0001217	Clubbing	79651	RHBDF2	ORPHA:2198
HP:0001217	Clubbing	9487	PIGL	ORPHA:3474
HP:0001217	Clubbing	672	BRCA1	ORPHA:84
HP:0001217	Clubbing	10459	MAD2L2	ORPHA:84
HP:0001217	Clubbing	7516	XRCC2	ORPHA:84
HP:0001217	Clubbing	29089	UBE2T	ORPHA:84
HP:0001217	Clubbing	675	BRCA2	ORPHA:84
HP:0001217	Clubbing	55120	FANCL	ORPHA:84
HP:0001217	Clubbing	2177	FANCD2	ORPHA:84
HP:0001217	Clubbing	2175	FANCA	ORPHA:84
HP:0001217	Clubbing	2187	FANCB	ORPHA:84
HP:0001217	Clubbing	2176	FANCC	ORPHA:84
HP:0001217	Clubbing	2178	FANCE	ORPHA:84
HP:0001217	Clubbing	2188	FANCF	ORPHA:84
HP:0001217	Clubbing	2189	FANCG	ORPHA:84
HP:0001217	Clubbing	5888	RAD51	ORPHA:84
HP:0001217	Clubbing	5889	RAD51C	ORPHA:84
HP:0001217	Clubbing	55159	RFWD3	ORPHA:84
HP:0001217	Clubbing	83990	BRIP1	ORPHA:84
HP:0001217	Clubbing	57697	FANCM	ORPHA:84
HP:0001217	Clubbing	79728	PALB2	ORPHA:84
HP:0001217	Clubbing	84464	SLX4	ORPHA:84
HP:0001217	Clubbing	2072	ERCC4	ORPHA:84
HP:0001217	Clubbing	55215	FANCI	ORPHA:84
HP:0005876	Progressive flexion contractures	118429	ANTXR2	ORPHA:2028
HP:0005876	Progressive flexion contractures	118429	ANTXR2	OMIM:228600
HP:0005876	Progressive flexion contractures	2643	GCH1	ORPHA:98808
HP:0005876	Progressive flexion contractures	4929	NR4A2	ORPHA:98808
HP:0005876	Progressive flexion contractures	3615	IMPDH2	ORPHA:98808
HP:0005876	Progressive flexion contractures	9968	MED12	ORPHA:93932
HP:0005876	Progressive flexion contractures	6857	SYT1	ORPHA:522077
HP:0005876	Progressive flexion contractures	157570	ESCO2	ORPHA:3103
HP:0005877	Multiple small vertebral fractures	79879	CCDC134	OMIM:619795
HP:0005877	Multiple small vertebral fractures	860	RUNX2	OMIM:156510
HP:0005877	Multiple small vertebral fractures	4148	MATN3	ORPHA:93311
HP:0005879	Congenital finger flexion contractures	1303	COL12A1	ORPHA:536516
HP:0005879	Congenital finger flexion contractures	825	CAPN3	ORPHA:267
HP:0005879	Congenital finger flexion contractures	10216	PRG4	OMIM:208250
HP:0005879	Congenital finger flexion contractures	113179	ADAT3	ORPHA:363528
HP:0005879	Congenital finger flexion contractures	7043	TGFB3	OMIM:615582
HP:0005879	Congenital finger flexion contractures	51305	KCNK9	ORPHA:166108
HP:0005879	Congenital finger flexion contractures	22880	MORC2	ORPHA:466768
HP:0005879	Congenital finger flexion contractures	2201	FBN2	OMIM:121050
HP:0005879	Congenital finger flexion contractures	63895	PIEZO2	ORPHA:1154
HP:0005879	Congenital finger flexion contractures	63895	PIEZO2	OMIM:108145
HP:0005879	Congenital finger flexion contractures	170689	ADAMTS15	OMIM:620545
HP:0005879	Congenital finger flexion contractures	6329	SCN4A	OMIM:620351
HP:0011004	Abnormal systemic arterial morphology	5167	ENPP1	ORPHA:51608
HP:0011004	Abnormal systemic arterial morphology	368	ABCC6	ORPHA:51608
HP:0011004	Abnormal systemic arterial morphology	90952	ESAM	OMIM:620371
HP:0011004	Abnormal systemic arterial morphology	84168	ANTXR1	OMIM:230740
HP:0011004	Abnormal systemic arterial morphology	1282	COL4A1	OMIM:180000
HP:0011004	Abnormal systemic arterial morphology	1282	COL4A1	OMIM:611773
HP:0011004	Abnormal systemic arterial morphology	1282	COL4A1	OMIM:175780
HP:0011004	Abnormal systemic arterial morphology	4693	NDP	ORPHA:90050
HP:0011004	Abnormal systemic arterial morphology	4041	LRP5	ORPHA:90050
HP:0011004	Abnormal systemic arterial morphology	8322	FZD4	ORPHA:90050
HP:0011004	Abnormal systemic arterial morphology	51085	MLXIPL	OMIM:194050
HP:0011004	Abnormal systemic arterial morphology	4508	MT-ATP6	ORPHA:644
HP:0011004	Abnormal systemic arterial morphology	1312	COMT	ORPHA:567
HP:0011004	Abnormal systemic arterial morphology	221037	JMJD1C	ORPHA:567
HP:0011004	Abnormal systemic arterial morphology	2812	GP1BB	ORPHA:567
HP:0011004	Abnormal systemic arterial morphology	6239	RREB1	ORPHA:567
HP:0011004	Abnormal systemic arterial morphology	7290	HIRA	ORPHA:567
HP:0011004	Abnormal systemic arterial morphology	9632	SEC24C	ORPHA:567
HP:0011004	Abnormal systemic arterial morphology	7353	UFD1	ORPHA:567
HP:0011004	Abnormal systemic arterial morphology	421	ARVCF	ORPHA:567
HP:0011004	Abnormal systemic arterial morphology	63036	CELA2A	OMIM:618620
HP:0011004	Abnormal systemic arterial morphology	336	APOA2	OMIM:143890
HP:0011004	Abnormal systemic arterial morphology	2053	EPHX2	OMIM:143890
HP:0011004	Abnormal systemic arterial morphology	10842	PPP1R17	OMIM:143890
HP:0011004	Abnormal systemic arterial morphology	2690	GHR	OMIM:143890
HP:0011004	Abnormal systemic arterial morphology	79184	BRCC3	ORPHA:280679
HP:0011004	Abnormal systemic arterial morphology	2099	ESR1	ORPHA:785
HP:0011004	Abnormal systemic arterial morphology	57104	PNPLA2	ORPHA:565612
HP:0011004	Abnormal systemic arterial morphology	64131	XYLT1	OMIM:264800
HP:0011004	Abnormal systemic arterial morphology	64132	XYLT2	OMIM:264800
HP:0011004	Abnormal systemic arterial morphology	57592	ZNF687	OMIM:616833
HP:0011004	Abnormal systemic arterial morphology	6910	TBX5	ORPHA:392
HP:0011004	Abnormal systemic arterial morphology	23556	PIGN	ORPHA:2059
HP:0011004	Abnormal systemic arterial morphology	3423	IDS	ORPHA:217085
HP:0011004	Abnormal systemic arterial morphology	3423	IDS	ORPHA:217093
HP:0011004	Abnormal systemic arterial morphology	9759	HDAC4	ORPHA:1001
HP:0011004	Abnormal systemic arterial morphology	2260	FGFR1	ORPHA:2396
HP:0011004	Abnormal systemic arterial morphology	3845	KRAS	ORPHA:2396
HP:0011004	Abnormal systemic arterial morphology	64359	NXN	ORPHA:1507
HP:0011004	Abnormal systemic arterial morphology	4920	ROR2	ORPHA:1507
HP:0011004	Abnormal systemic arterial morphology	672	BRCA1	ORPHA:84
HP:0011004	Abnormal systemic arterial morphology	10459	MAD2L2	ORPHA:84
HP:0011004	Abnormal systemic arterial morphology	7516	XRCC2	ORPHA:84
HP:0011004	Abnormal systemic arterial morphology	29089	UBE2T	ORPHA:84
HP:0011004	Abnormal systemic arterial morphology	675	BRCA2	ORPHA:84
HP:0011004	Abnormal systemic arterial morphology	55120	FANCL	ORPHA:84
HP:0011004	Abnormal systemic arterial morphology	2177	FANCD2	ORPHA:84
HP:0011004	Abnormal systemic arterial morphology	2175	FANCA	ORPHA:84
HP:0011004	Abnormal systemic arterial morphology	2187	FANCB	ORPHA:84
HP:0011004	Abnormal systemic arterial morphology	2176	FANCC	ORPHA:84
HP:0011004	Abnormal systemic arterial morphology	2178	FANCE	ORPHA:84
HP:0011004	Abnormal systemic arterial morphology	2188	FANCF	ORPHA:84
HP:0011004	Abnormal systemic arterial morphology	2189	FANCG	ORPHA:84
HP:0011004	Abnormal systemic arterial morphology	5888	RAD51	ORPHA:84
HP:0011004	Abnormal systemic arterial morphology	5889	RAD51C	ORPHA:84
HP:0011004	Abnormal systemic arterial morphology	55159	RFWD3	ORPHA:84
HP:0011004	Abnormal systemic arterial morphology	83990	BRIP1	ORPHA:84
HP:0011004	Abnormal systemic arterial morphology	57697	FANCM	ORPHA:84
HP:0011004	Abnormal systemic arterial morphology	79728	PALB2	ORPHA:84
HP:0011004	Abnormal systemic arterial morphology	84464	SLX4	ORPHA:84
HP:0011004	Abnormal systemic arterial morphology	2072	ERCC4	ORPHA:84
HP:0011004	Abnormal systemic arterial morphology	55215	FANCI	ORPHA:84
HP:0011004	Abnormal systemic arterial morphology	2626	GATA4	ORPHA:251071
HP:0011004	Abnormal systemic arterial morphology	9184	BUB3	ORPHA:1052
HP:0011004	Abnormal systemic arterial morphology	699	BUB1	ORPHA:1052
HP:0011004	Abnormal systemic arterial morphology	9702	CEP57	ORPHA:1052
HP:0011004	Abnormal systemic arterial morphology	9319	TRIP13	ORPHA:1052
HP:0011004	Abnormal systemic arterial morphology	701	BUB1B	ORPHA:1052
HP:0011004	Abnormal systemic arterial morphology	2737	GLI3	ORPHA:672
HP:0011004	Abnormal systemic arterial morphology	22827	PUF60	ORPHA:508498
HP:0011004	Abnormal systemic arterial morphology	22827	PUF60	ORPHA:508488
HP:0011004	Abnormal systemic arterial morphology	10128	LRPPRC	OMIM:220111
HP:0011004	Abnormal systemic arterial morphology	2294	FOXF1	OMIM:265380
HP:0011004	Abnormal systemic arterial morphology	8216	LZTR1	OMIM:616564
HP:0011004	Abnormal systemic arterial morphology	8216	LZTR1	ORPHA:648
HP:0011004	Abnormal systemic arterial morphology	8216	LZTR1	OMIM:605275
HP:0011004	Abnormal systemic arterial morphology	123606	NIPA1	ORPHA:261183
HP:0011004	Abnormal systemic arterial morphology	7283	TUBG1	ORPHA:261183
HP:0011004	Abnormal systemic arterial morphology	81614	NIPA2	ORPHA:261183
HP:0011004	Abnormal systemic arterial morphology	1024	CDK8	OMIM:618748
HP:0011004	Abnormal systemic arterial morphology	100151683	RNU4ATAC	OMIM:210710
HP:0011004	Abnormal systemic arterial morphology	132	ADK	OMIM:614300
HP:0011004	Abnormal systemic arterial morphology	4091	SMAD6	OMIM:614823
HP:0011004	Abnormal systemic arterial morphology	4091	SMAD6	ORPHA:402075
HP:0011004	Abnormal systemic arterial morphology	79903	NAA60	OMIM:620786
HP:0011004	Abnormal systemic arterial morphology	2657	GDF1	OMIM:613854
HP:0011004	Abnormal systemic arterial morphology	5927	KDM5A	OMIM:620820
HP:0011004	Abnormal systemic arterial morphology	79813	EHMT1	ORPHA:96147
HP:0011004	Abnormal systemic arterial morphology	10992	SF3B2	OMIM:164210
HP:0011004	Abnormal systemic arterial morphology	4838	NODAL	OMIM:270100
HP:0011004	Abnormal systemic arterial morphology	4838	NODAL	ORPHA:280195
HP:0011004	Abnormal systemic arterial morphology	64220	STRA6	OMIM:601186
HP:0011004	Abnormal systemic arterial morphology	6888	TALDO1	ORPHA:101028
HP:0011004	Abnormal systemic arterial morphology	6888	TALDO1	OMIM:606003
HP:0011004	Abnormal systemic arterial morphology	7707	ZNF148	OMIM:617260
HP:0011004	Abnormal systemic arterial morphology	7490	WT1	ORPHA:3097
HP:0011004	Abnormal systemic arterial morphology	7490	WT1	OMIM:608978
HP:0011004	Abnormal systemic arterial morphology	10847	SRCAP	OMIM:136140
HP:0011004	Abnormal systemic arterial morphology	10847	SRCAP	ORPHA:2044
HP:0011004	Abnormal systemic arterial morphology	89910	UBE3B	OMIM:244450
HP:0011004	Abnormal systemic arterial morphology	4893	NRAS	OMIM:613224
HP:0011004	Abnormal systemic arterial morphology	4893	NRAS	OMIM:163200
HP:0011004	Abnormal systemic arterial morphology	4893	NRAS	ORPHA:648
HP:0011004	Abnormal systemic arterial morphology	55784	MCTP2	ORPHA:1596
HP:0011004	Abnormal systemic arterial morphology	8085	KMT2D	ORPHA:2322
HP:0011004	Abnormal systemic arterial morphology	8085	KMT2D	OMIM:147920
HP:0011004	Abnormal systemic arterial morphology	7403	KDM6A	ORPHA:2322
HP:0011004	Abnormal systemic arterial morphology	7403	KDM6A	OMIM:300867
HP:0011004	Abnormal systemic arterial morphology	7403	KDM6A	OMIM:147920
HP:0011004	Abnormal systemic arterial morphology	5053	PAH	ORPHA:2209
HP:0011004	Abnormal systemic arterial morphology	7547	ZIC3	OMIM:306955
HP:0011004	Abnormal systemic arterial morphology	4763	NF1	OMIM:162200
HP:0011004	Abnormal systemic arterial morphology	4763	NF1	ORPHA:97685
HP:0011004	Abnormal systemic arterial morphology	10735	STAG2	OMIM:301022
HP:0011004	Abnormal systemic arterial morphology	1956	EGFR	OMIM:616069
HP:0011004	Abnormal systemic arterial morphology	146862	UNC45B	OMIM:619178
HP:0011004	Abnormal systemic arterial morphology	9968	MED12	ORPHA:93932
HP:0011004	Abnormal systemic arterial morphology	9968	MED12	OMIM:301068
HP:0011004	Abnormal systemic arterial morphology	1108	CHD4	OMIM:617159
HP:0011004	Abnormal systemic arterial morphology	7026	NR2F2	OMIM:615779
HP:0011004	Abnormal systemic arterial morphology	51057	WDPCP	OMIM:217085
HP:0011004	Abnormal systemic arterial morphology	1000	CDH2	OMIM:618929
HP:0011004	Abnormal systemic arterial morphology	4313	MMP2	ORPHA:371428
HP:0011004	Abnormal systemic arterial morphology	4323	MMP14	ORPHA:371428
HP:0011004	Abnormal systemic arterial morphology	1717	DHCR7	OMIM:270400
HP:0011004	Abnormal systemic arterial morphology	9839	ZEB2	ORPHA:261552
HP:0011004	Abnormal systemic arterial morphology	9839	ZEB2	ORPHA:261537
HP:0011004	Abnormal systemic arterial morphology	5745	PTH1R	ORPHA:50945
HP:0011004	Abnormal systemic arterial morphology	4212	MEIS2	OMIM:600987
HP:0011004	Abnormal systemic arterial morphology	8802	SUCLG1	ORPHA:17
HP:0011004	Abnormal systemic arterial morphology	1822	ATN1	OMIM:618494
HP:0011004	Abnormal systemic arterial morphology	25	ABL1	OMIM:617602
HP:0011004	Abnormal systemic arterial morphology	139285	AMER1	ORPHA:2780
HP:0011004	Abnormal systemic arterial morphology	26834	RNU4-2	OMIM:620851
HP:0011004	Abnormal systemic arterial morphology	55644	OSGEP	OMIM:617729
HP:0011004	Abnormal systemic arterial morphology	5826	ABCD4	OMIM:614857
HP:0011004	Abnormal systemic arterial morphology	8883	NAE1	OMIM:620210
HP:0011004	Abnormal systemic arterial morphology	2313	FLI1	ORPHA:2308
HP:0011004	Abnormal systemic arterial morphology	10664	CTCF	ORPHA:363611
HP:0011004	Abnormal systemic arterial morphology	10664	CTCF	OMIM:615502
HP:0011004	Abnormal systemic arterial morphology	65250	CPLANE1	OMIM:277170
HP:0011004	Abnormal systemic arterial morphology	3265	HRAS	OMIM:163200
HP:0011004	Abnormal systemic arterial morphology	83475	DOHH	OMIM:620066
HP:0011004	Abnormal systemic arterial morphology	11198	SUPT16H	OMIM:619480
HP:0011004	Abnormal systemic arterial morphology	4089	SMAD4	OMIM:139210
HP:0011004	Abnormal systemic arterial morphology	28514	DLL1	ORPHA:280195
HP:0011004	Abnormal systemic arterial morphology	2253	FGF8	ORPHA:280195
HP:0011004	Abnormal systemic arterial morphology	6496	SIX3	ORPHA:280195
HP:0011004	Abnormal systemic arterial morphology	7050	TGIF1	ORPHA:280195
HP:0011004	Abnormal systemic arterial morphology	6469	SHH	ORPHA:280195
HP:0011004	Abnormal systemic arterial morphology	7546	ZIC2	ORPHA:280195
HP:0011004	Abnormal systemic arterial morphology	6491	STIL	ORPHA:280195
HP:0011004	Abnormal systemic arterial morphology	2619	GAS1	ORPHA:280195
HP:0011004	Abnormal systemic arterial morphology	84976	DISP1	ORPHA:280195
HP:0011004	Abnormal systemic arterial morphology	2736	GLI2	ORPHA:280195
HP:0011004	Abnormal systemic arterial morphology	8928	FOXH1	ORPHA:280195
HP:0011004	Abnormal systemic arterial morphology	6997	CRIPTO	ORPHA:280195
HP:0011004	Abnormal systemic arterial morphology	5727	PTCH1	ORPHA:280195
HP:0011004	Abnormal systemic arterial morphology	50937	CDON	ORPHA:280195
HP:0011004	Abnormal systemic arterial morphology	1654	DDX3X	ORPHA:3338
HP:0011004	Abnormal systemic arterial morphology	57057	TBX20	OMIM:611363
HP:0011004	Abnormal systemic arterial morphology	5500	PPP1CB	OMIM:617506
HP:0011004	Abnormal systemic arterial morphology	182	JAG1	OMIM:118450
HP:0011004	Abnormal systemic arterial morphology	4625	MYH7	OMIM:613426
HP:0011004	Abnormal systemic arterial morphology	4851	NOTCH1	ORPHA:402075
HP:0011004	Abnormal systemic arterial morphology	1482	NKX2-5	ORPHA:402075
HP:0011004	Abnormal systemic arterial morphology	1482	NKX2-5	OMIM:217095
HP:0011004	Abnormal systemic arterial morphology	140628	GATA5	ORPHA:402075
HP:0011004	Abnormal systemic arterial morphology	2627	GATA6	OMIM:217095
HP:0011004	Abnormal systemic arterial morphology	51322	WAC	ORPHA:284169
HP:0011004	Abnormal systemic arterial morphology	84231	TRAF7	OMIM:618164
HP:0011004	Abnormal systemic arterial morphology	23483	TGDS	OMIM:616145
HP:0011004	Abnormal systemic arterial morphology	5832	ALDH18A1	ORPHA:90348
HP:0011004	Abnormal systemic arterial morphology	5236	PGM1	OMIM:614921
HP:0011004	Abnormal systemic arterial morphology	22800	RRAS2	ORPHA:648
HP:0011004	Abnormal systemic arterial morphology	867	CBL	ORPHA:648
HP:0011004	Abnormal systemic arterial morphology	6016	RIT1	ORPHA:648
HP:0011004	Abnormal systemic arterial morphology	6237	RRAS	ORPHA:648
HP:0011004	Abnormal systemic arterial morphology	5894	RAF1	ORPHA:648
HP:0011004	Abnormal systemic arterial morphology	22808	MRAS	ORPHA:648
HP:0011004	Abnormal systemic arterial morphology	200734	SPRED2	ORPHA:648
HP:0011004	Abnormal systemic arterial morphology	6654	SOS1	ORPHA:648
HP:0011004	Abnormal systemic arterial morphology	6655	SOS2	ORPHA:648
HP:0011004	Abnormal systemic arterial morphology	6655	SOS2	OMIM:616559
HP:0011004	Abnormal systemic arterial morphology	5781	PTPN11	ORPHA:648
HP:0011004	Abnormal systemic arterial morphology	5781	PTPN11	OMIM:163950
HP:0011004	Abnormal systemic arterial morphology	5922	RASA2	ORPHA:648
HP:0011004	Abnormal systemic arterial morphology	9939	RBM8A	OMIM:274000
HP:0011004	Abnormal systemic arterial morphology	6223	RPS19	OMIM:105650
HP:0011004	Abnormal systemic arterial morphology	6223	RPS19	ORPHA:124
HP:0011004	Abnormal systemic arterial morphology	6138	RPL15	ORPHA:124
HP:0011004	Abnormal systemic arterial morphology	6224	RPS20	ORPHA:124
HP:0011004	Abnormal systemic arterial morphology	6165	RPL35A	ORPHA:124
HP:0011004	Abnormal systemic arterial morphology	6132	RPL8	ORPHA:124
HP:0011004	Abnormal systemic arterial morphology	6232	RPS27	ORPHA:124
HP:0011004	Abnormal systemic arterial morphology	55027	HEATR3	ORPHA:124
HP:0011004	Abnormal systemic arterial morphology	6160	RPL31	ORPHA:124
HP:0011004	Abnormal systemic arterial morphology	6201	RPS7	ORPHA:124
HP:0011004	Abnormal systemic arterial morphology	6155	RPL27	ORPHA:124
HP:0011004	Abnormal systemic arterial morphology	6234	RPS28	ORPHA:124
HP:0011004	Abnormal systemic arterial morphology	6135	RPL11	ORPHA:124
HP:0011004	Abnormal systemic arterial morphology	6229	RPS24	ORPHA:124
HP:0011004	Abnormal systemic arterial morphology	6125	RPL5	ORPHA:124
HP:0011004	Abnormal systemic arterial morphology	6204	RPS10	ORPHA:124
HP:0011004	Abnormal systemic arterial morphology	2623	GATA1	ORPHA:124
HP:0011004	Abnormal systemic arterial morphology	6133	RPL9	ORPHA:124
HP:0011004	Abnormal systemic arterial morphology	6231	RPS26	ORPHA:124
HP:0011004	Abnormal systemic arterial morphology	11224	RPL35	ORPHA:124
HP:0011004	Abnormal systemic arterial morphology	6218	RPS17	ORPHA:124
HP:0011004	Abnormal systemic arterial morphology	6154	RPL26	ORPHA:124
HP:0011004	Abnormal systemic arterial morphology	6210	RPS15A	ORPHA:124
HP:0011004	Abnormal systemic arterial morphology	90121	TSR2	ORPHA:124
HP:0011004	Abnormal systemic arterial morphology	6141	RPL18	ORPHA:124
HP:0011004	Abnormal systemic arterial morphology	6235	RPS29	ORPHA:124
HP:0011004	Abnormal systemic arterial morphology	6595	SMARCA2	OMIM:601358
HP:0011004	Abnormal systemic arterial morphology	51626	DYNC2LI1	OMIM:617088
HP:0011004	Abnormal systemic arterial morphology	8295	TRRAP	OMIM:618454
HP:0011004	Abnormal systemic arterial morphology	54903	MKS1	OMIM:249000
HP:0011004	Abnormal systemic arterial morphology	7543	ZFX	OMIM:301118
HP:0011004	Abnormal systemic arterial morphology	2703	GJA8	OMIM:612474
HP:0011004	Abnormal systemic arterial morphology	2702	GJA5	OMIM:612474
HP:0011004	Abnormal systemic arterial morphology	4281	MID1	ORPHA:2745
HP:0011004	Abnormal systemic arterial morphology	6736	SRY	ORPHA:1772
HP:0011004	Abnormal systemic arterial morphology	100128908	CIROP	OMIM:619702
HP:0011004	Abnormal systemic arterial morphology	9894	TELO2	OMIM:616954
HP:0011004	Abnormal systemic arterial morphology	673	BRAF	OMIM:163950
HP:0011004	Abnormal systemic arterial morphology	5604	MAP2K1	OMIM:163950
HP:0011004	Abnormal systemic arterial morphology	9896	FIG4	ORPHA:3472
HP:0011004	Abnormal systemic arterial morphology	55697	VAC14	ORPHA:3472
HP:0011004	Abnormal systemic arterial morphology	55654	TMEM127	OMIM:171300
HP:0011004	Abnormal systemic arterial morphology	4149	MAX	OMIM:171300
HP:0011004	Abnormal systemic arterial morphology	5979	RET	OMIM:171300
HP:0011004	Abnormal systemic arterial morphology	7428	VHL	OMIM:171300
HP:0011004	Abnormal systemic arterial morphology	50628	GEMIN4	OMIM:617913
HP:0011004	Abnormal systemic arterial morphology	5456	POU3F4	ORPHA:1435
HP:0011004	Abnormal systemic arterial morphology	6575	SLC20A2	OMIM:213600
HP:0011004	Abnormal systemic arterial morphology	5159	PDGFRB	OMIM:213600
HP:0011004	Abnormal systemic arterial morphology	5155	PDGFB	OMIM:213600
HP:0011004	Abnormal systemic arterial morphology	490	ATP2B1	OMIM:619910
HP:0011004	Abnormal systemic arterial morphology	1788	DNMT3A	ORPHA:404443
HP:0011004	Abnormal systemic arterial morphology	27125	AFF4	ORPHA:444077
HP:0011004	Abnormal systemic arterial morphology	1278	COL1A2	ORPHA:230851
HP:0011004	Abnormal systemic arterial morphology	2332	FMR1	ORPHA:449291
HP:0011004	Abnormal systemic arterial morphology	84665	MYPN	ORPHA:171881
HP:0011004	Abnormal systemic arterial morphology	7169	TPM2	ORPHA:171881
HP:0011004	Abnormal systemic arterial morphology	7170	TPM3	ORPHA:171881
HP:0011004	Abnormal systemic arterial morphology	3756	KCNH1	OMIM:135500
HP:0011004	Abnormal systemic arterial morphology	5238	PGM3	OMIM:615816
HP:0011004	Abnormal systemic arterial morphology	9469	CHST3	OMIM:245600
HP:0011004	Abnormal systemic arterial morphology	26229	B3GAT3	OMIM:245600
HP:0011004	Abnormal systemic arterial morphology	4883	NPR3	OMIM:619543
HP:0011004	Abnormal systemic arterial morphology	79576	NKAP	OMIM:301039
HP:0011004	Abnormal systemic arterial morphology	833	CARS1	OMIM:618891
HP:0011004	Abnormal systemic arterial morphology	23384	SPECC1L	OMIM:145420
HP:0011004	Abnormal systemic arterial morphology	5908	RAP1B	OMIM:620654
HP:0011004	Abnormal systemic arterial morphology	5468	PPARG	ORPHA:79083
HP:0011004	Abnormal systemic arterial morphology	8815	BANF1	OMIM:614008
HP:0011004	Abnormal systemic arterial morphology	19	ABCA1	OMIM:205400
HP:0011004	Abnormal systemic arterial morphology	19	ABCA1	ORPHA:425
HP:0011004	Abnormal systemic arterial morphology	2677	GGCX	OMIM:610842
HP:0011004	Abnormal systemic arterial morphology	2677	GGCX	ORPHA:91135
HP:0011004	Abnormal systemic arterial morphology	7840	ALMS1	OMIM:203800
HP:0011004	Abnormal systemic arterial morphology	7486	WRN	ORPHA:902
HP:0011004	Abnormal systemic arterial morphology	189	AGXT	ORPHA:93598
HP:0011004	Abnormal systemic arterial morphology	335	APOA1	ORPHA:425
HP:0011004	Abnormal systemic arterial morphology	10269	ZMPSTE24	ORPHA:740
HP:0011004	Abnormal systemic arterial morphology	3931	LCAT	ORPHA:79292
HP:0011004	Abnormal systemic arterial morphology	10743	RAI1	ORPHA:477817
HP:0011004	Abnormal systemic arterial morphology	91754	NEK9	OMIM:617022
HP:0011004	Abnormal systemic arterial morphology	23395	LARS2	OMIM:617021
HP:0011004	Abnormal systemic arterial morphology	54539	NDUFB11	OMIM:309801
HP:0011004	Abnormal systemic arterial morphology	1349	COX7B	OMIM:309801
HP:0011004	Abnormal systemic arterial morphology	3052	HCCS	OMIM:309801
HP:0011004	Abnormal systemic arterial morphology	55636	CHD7	OMIM:214800
HP:0011004	Abnormal systemic arterial morphology	2263	FGFR2	OMIM:101200
HP:0011004	Abnormal systemic arterial morphology	78987	CRELD1	OMIM:606217
HP:0011004	Abnormal systemic arterial morphology	5654	HTRA1	ORPHA:199354
HP:0011004	Abnormal systemic arterial morphology	2068	ERCC2	ORPHA:220295
HP:0011004	Abnormal systemic arterial morphology	2073	ERCC5	ORPHA:220295
HP:0011004	Abnormal systemic arterial morphology	2071	ERCC3	ORPHA:220295
HP:0011004	Abnormal systemic arterial morphology	847	CAT	ORPHA:926
HP:0011004	Abnormal systemic arterial morphology	50485	SMARCAL1	OMIM:242900
HP:0011004	Abnormal systemic arterial morphology	3988	LIPA	ORPHA:75234
HP:0011004	Abnormal systemic arterial morphology	26191	PTPN22	ORPHA:397
HP:0011004	Abnormal systemic arterial morphology	3123	HLA-DRB1	ORPHA:397
HP:0011004	Abnormal systemic arterial morphology	8974	P4HA2	ORPHA:397
HP:0011004	Abnormal systemic arterial morphology	2200	FBN1	OMIM:154700
HP:0011004	Abnormal systemic arterial morphology	2200	FBN1	ORPHA:91387
HP:0011004	Abnormal systemic arterial morphology	633	BGN	OMIM:300989
HP:0011004	Abnormal systemic arterial morphology	4015	LOX	ORPHA:91387
HP:0011004	Abnormal systemic arterial morphology	59	ACTA2	ORPHA:91387
HP:0011004	Abnormal systemic arterial morphology	5592	PRKG1	ORPHA:91387
HP:0011004	Abnormal systemic arterial morphology	2301	FOXE3	ORPHA:91387
HP:0011004	Abnormal systemic arterial morphology	4144	MAT2A	ORPHA:91387
HP:0011004	Abnormal systemic arterial morphology	23493	HEY2	ORPHA:91387
HP:0011004	Abnormal systemic arterial morphology	8076	MFAP5	ORPHA:91387
HP:0011004	Abnormal systemic arterial morphology	4638	MYLK	ORPHA:91387
HP:0011004	Abnormal systemic arterial morphology	79875	THSD4	ORPHA:91387
HP:0011004	Abnormal systemic arterial morphology	7049	TGFBR3	ORPHA:231160
HP:0011004	Abnormal systemic arterial morphology	83854	ANGPTL6	ORPHA:231160
HP:0011004	Abnormal systemic arterial morphology	2022	ENG	ORPHA:231160
HP:0011004	Abnormal systemic arterial morphology	4907	NT5E	ORPHA:289601
HP:0011004	Abnormal systemic arterial morphology	6309	SC5D	OMIM:607330
HP:0011004	Abnormal systemic arterial morphology	10577	NPC2	OMIM:607625
HP:0011004	Abnormal systemic arterial morphology	5294	PIK3CG	OMIM:619802
HP:0011004	Abnormal systemic arterial morphology	1439	CSF2RB	ORPHA:264675
HP:0011004	Abnormal systemic arterial morphology	1438	CSF2RA	ORPHA:264675
HP:0011004	Abnormal systemic arterial morphology	4864	NPC1	OMIM:257220
HP:0011004	Abnormal systemic arterial morphology	1593	CYP27A1	ORPHA:909
HP:0011004	Abnormal systemic arterial morphology	7148	TNXB	ORPHA:230839
HP:0011004	Abnormal systemic arterial morphology	116519	APOA5	OMIM:145750
HP:0011004	Abnormal systemic arterial morphology	4023	LPL	OMIM:238600
HP:0011004	Abnormal systemic arterial morphology	3053	SERPIND1	OMIM:612356
HP:0011004	Abnormal systemic arterial morphology	11117	EMILIN1	OMIM:620080
HP:0011004	Abnormal systemic arterial morphology	54538	ROBO4	OMIM:618496
HP:0011004	Abnormal systemic arterial morphology	351	APP	OMIM:605714
HP:0011004	Abnormal systemic arterial morphology	375	ARF1	ORPHA:98892
HP:0011004	Abnormal systemic arterial morphology	4131	MAP1B	ORPHA:98892
HP:0011004	Abnormal systemic arterial morphology	2316	FLNA	ORPHA:98892
HP:0011004	Abnormal systemic arterial morphology	23327	NEDD4L	ORPHA:98892
HP:0011004	Abnormal systemic arterial morphology	160418	TMTC3	ORPHA:98892
HP:0011004	Abnormal systemic arterial morphology	10564	ARFGEF2	ORPHA:98892
HP:0011004	Abnormal systemic arterial morphology	55780	ERMARD	ORPHA:98892
HP:0011004	Abnormal systemic arterial morphology	23118	TAB2	OMIM:614980
HP:0011004	Abnormal systemic arterial morphology	6711	SPTBN1	OMIM:619475
HP:0011004	Abnormal systemic arterial morphology	29957	SLC25A24	OMIM:612289
HP:0011004	Abnormal systemic arterial morphology	3081	HGD	OMIM:203500
HP:0011004	Abnormal systemic arterial morphology	3081	HGD	ORPHA:56
HP:0011004	Abnormal systemic arterial morphology	5728	PTEN	ORPHA:109
HP:0011004	Abnormal systemic arterial morphology	64324	NSD1	ORPHA:821
HP:0011004	Abnormal systemic arterial morphology	10297	APC2	ORPHA:821
HP:0011004	Abnormal systemic arterial morphology	3190	HNRNPK	ORPHA:453504
HP:0011004	Abnormal systemic arterial morphology	3190	HNRNPK	ORPHA:352665
HP:0011004	Abnormal systemic arterial morphology	51611	DPH5	OMIM:620070
HP:0011004	Abnormal systemic arterial morphology	284058	KANSL1	ORPHA:363965
HP:0011004	Abnormal systemic arterial morphology	284058	KANSL1	ORPHA:363958
HP:0011004	Abnormal systemic arterial morphology	54453	RIN2	ORPHA:217335
HP:0011004	Abnormal systemic arterial morphology	54453	RIN2	OMIM:613075
HP:0011004	Abnormal systemic arterial morphology	613	BCR	ORPHA:261330
HP:0011004	Abnormal systemic arterial morphology	1399	CRKL	ORPHA:261330
HP:0011004	Abnormal systemic arterial morphology	5594	MAPK1	ORPHA:261330
HP:0011004	Abnormal systemic arterial morphology	113246	C12orf57	OMIM:218340
HP:0011004	Abnormal systemic arterial morphology	6497	SKI	OMIM:182212
HP:0011004	Abnormal systemic arterial morphology	25885	POLR1A	OMIM:616462
HP:0011004	Abnormal systemic arterial morphology	80204	FBXO11	OMIM:618089
HP:0011004	Abnormal systemic arterial morphology	3458	IFNG	ORPHA:805
HP:0011004	Abnormal systemic arterial morphology	7248	TSC1	ORPHA:805
HP:0011004	Abnormal systemic arterial morphology	7249	TSC2	ORPHA:805
HP:0011004	Abnormal systemic arterial morphology	7139	TNNT2	OMIM:612422
HP:0011004	Abnormal systemic arterial morphology	4621	MYH3	ORPHA:2990
HP:0011004	Abnormal systemic arterial morphology	1146	CHRNG	ORPHA:2990
HP:0011004	Abnormal systemic arterial morphology	64127	NOD2	ORPHA:90340
HP:0011004	Abnormal systemic arterial morphology	2317	FLNB	OMIM:150250
HP:0011004	Abnormal systemic arterial morphology	10535	RNASEH2A	ORPHA:51
HP:0011004	Abnormal systemic arterial morphology	84153	RNASEH2C	ORPHA:51
HP:0011004	Abnormal systemic arterial morphology	25939	SAMHD1	ORPHA:51
HP:0011004	Abnormal systemic arterial morphology	79621	RNASEH2B	ORPHA:51
HP:0011004	Abnormal systemic arterial morphology	103	ADAR	ORPHA:51
HP:0011004	Abnormal systemic arterial morphology	11277	TREX1	ORPHA:51
HP:0011004	Abnormal systemic arterial morphology	100147744	RNU7-1	ORPHA:51
HP:0011004	Abnormal systemic arterial morphology	134353	LSM11	ORPHA:51
HP:0011004	Abnormal systemic arterial morphology	64135	IFIH1	ORPHA:51
HP:0011004	Abnormal systemic arterial morphology	6874	TAF4	OMIM:620450
HP:0011004	Abnormal systemic arterial morphology	2201	FBN2	ORPHA:115
HP:0011004	Abnormal systemic arterial morphology	2548	GAA	OMIM:232300
HP:0011004	Abnormal systemic arterial morphology	10056	FARSB	OMIM:613658
HP:0011004	Abnormal systemic arterial morphology	5589	PRKCSH	OMIM:174050
HP:0011004	Abnormal systemic arterial morphology	5589	PRKCSH	ORPHA:2924
HP:0011004	Abnormal systemic arterial morphology	4796	TONSL	ORPHA:93357
HP:0011004	Abnormal systemic arterial morphology	8985	PLOD3	OMIM:612394
HP:0011004	Abnormal systemic arterial morphology	11231	SEC63	ORPHA:2924
HP:0011004	Abnormal systemic arterial morphology	5573	PRKAR1A	ORPHA:615
HP:0011004	Abnormal systemic arterial morphology	5573	PRKAR1A	ORPHA:1359
HP:0011004	Abnormal systemic arterial morphology	50940	PDE11A	ORPHA:1359
HP:0011004	Abnormal systemic arterial morphology	4352	MPL	ORPHA:71493
HP:0011004	Abnormal systemic arterial morphology	7066	THPO	ORPHA:71493
HP:0011004	Abnormal systemic arterial morphology	3717	JAK2	ORPHA:71493
HP:0011004	Abnormal systemic arterial morphology	3949	LDLR	ORPHA:391665
HP:0011004	Abnormal systemic arterial morphology	255738	PCSK9	ORPHA:391665
HP:0011004	Abnormal systemic arterial morphology	26119	LDLRAP1	ORPHA:391665
HP:0011004	Abnormal systemic arterial morphology	338	APOB	ORPHA:391665
HP:0011004	Abnormal systemic arterial morphology	64240	ABCG5	ORPHA:391665
HP:0011004	Abnormal systemic arterial morphology	64241	ABCG8	ORPHA:391665
HP:0011004	Abnormal systemic arterial morphology	2629	GBA1	OMIM:231005
HP:0011004	Abnormal systemic arterial morphology	2629	GBA1	ORPHA:77261
HP:0011004	Abnormal systemic arterial morphology	2629	GBA1	ORPHA:2072
HP:0011004	Abnormal systemic arterial morphology	10568	SLC34A2	ORPHA:60025
HP:0011004	Abnormal systemic arterial morphology	7058	THBS2	OMIM:620865
HP:0011004	Abnormal systemic arterial morphology	171019	ADAMTS19	OMIM:620067
HP:0011004	Abnormal systemic arterial morphology	2972	BRF1	ORPHA:444072
HP:0011004	Abnormal systemic arterial morphology	4067	LYN	OMIM:620376
HP:0011004	Abnormal systemic arterial morphology	286053	NSMCE2	OMIM:617253
HP:0011004	Abnormal systemic arterial morphology	5590	PRKCZ	ORPHA:1606
HP:0011004	Abnormal systemic arterial morphology	2563	GABRD	ORPHA:1606
HP:0011004	Abnormal systemic arterial morphology	23013	SPEN	ORPHA:1606
HP:0011004	Abnormal systemic arterial morphology	8510	MMP23B	ORPHA:1606
HP:0011004	Abnormal systemic arterial morphology	7798	LUZP1	ORPHA:1606
HP:0011004	Abnormal systemic arterial morphology	10630	PDPN	ORPHA:1606
HP:0011004	Abnormal systemic arterial morphology	3339	HSPG2	ORPHA:1606
HP:0011004	Abnormal systemic arterial morphology	10277	UBE4B	ORPHA:1606
HP:0011004	Abnormal systemic arterial morphology	8514	KCNAB2	ORPHA:1606
HP:0011004	Abnormal systemic arterial morphology	473	RERE	ORPHA:1606
HP:0011004	Abnormal systemic arterial morphology	63976	PRDM16	ORPHA:1606
HP:0011004	Abnormal systemic arterial morphology	54897	CASZ1	ORPHA:1606
HP:0011004	Abnormal systemic arterial morphology	7046	TGFBR1	ORPHA:60030
HP:0011004	Abnormal systemic arterial morphology	7046	TGFBR1	OMIM:609192
HP:0011004	Abnormal systemic arterial morphology	7046	TGFBR1	OMIM:132800
HP:0011004	Abnormal systemic arterial morphology	10526	IPO8	ORPHA:60030
HP:0011004	Abnormal systemic arterial morphology	10526	IPO8	OMIM:619472
HP:0011004	Abnormal systemic arterial morphology	7048	TGFBR2	ORPHA:60030
HP:0011004	Abnormal systemic arterial morphology	7048	TGFBR2	OMIM:610168
HP:0011004	Abnormal systemic arterial morphology	7042	TGFB2	ORPHA:60030
HP:0011004	Abnormal systemic arterial morphology	7042	TGFB2	OMIM:614816
HP:0011004	Abnormal systemic arterial morphology	7043	TGFB3	ORPHA:60030
HP:0011004	Abnormal systemic arterial morphology	4087	SMAD2	ORPHA:60030
HP:0011004	Abnormal systemic arterial morphology	4087	SMAD2	OMIM:619656
HP:0011004	Abnormal systemic arterial morphology	4088	SMAD3	ORPHA:60030
HP:0011004	Abnormal systemic arterial morphology	4088	SMAD3	ORPHA:284984
HP:0011004	Abnormal systemic arterial morphology	4088	SMAD3	OMIM:613795
HP:0011004	Abnormal systemic arterial morphology	9149	DYRK1B	OMIM:615812
HP:0011004	Abnormal systemic arterial morphology	3990	LIPC	ORPHA:140905
HP:0011004	Abnormal systemic arterial morphology	1161	ERCC8	ORPHA:90324
HP:0011004	Abnormal systemic arterial morphology	2074	ERCC6	ORPHA:90324
HP:0011004	Abnormal systemic arterial morphology	84984	CEP19	OMIM:615703
HP:0011004	Abnormal systemic arterial morphology	338328	GPIHBP1	OMIM:615947
HP:0011004	Abnormal systemic arterial morphology	4205	MEF2A	OMIM:608320
HP:0011004	Abnormal systemic arterial morphology	4040	LRP6	OMIM:610947
HP:0011004	Abnormal systemic arterial morphology	3198	HOXA1	OMIM:601536
HP:0011004	Abnormal systemic arterial morphology	1277	COL1A1	ORPHA:287
HP:0011004	Abnormal systemic arterial morphology	1289	COL5A1	ORPHA:287
HP:0011004	Abnormal systemic arterial morphology	1290	COL5A2	ORPHA:287
HP:0011004	Abnormal systemic arterial morphology	1281	COL3A1	ORPHA:286
HP:0011004	Abnormal systemic arterial morphology	5351	PLOD1	ORPHA:1900
HP:0011004	Abnormal systemic arterial morphology	7703	PCGF2	OMIM:618371
HP:0011004	Abnormal systemic arterial morphology	55901	THSD1	OMIM:618734
HP:0011004	Abnormal systemic arterial morphology	538	ATP7A	ORPHA:565
HP:0011004	Abnormal systemic arterial morphology	6804	STX1A	ORPHA:904
HP:0011004	Abnormal systemic arterial morphology	7461	CLIP2	ORPHA:904
HP:0011004	Abnormal systemic arterial morphology	84277	DNAJC30	ORPHA:904
HP:0011004	Abnormal systemic arterial morphology	8468	FKBP6	ORPHA:904
HP:0011004	Abnormal systemic arterial morphology	5982	RFC2	ORPHA:904
HP:0011004	Abnormal systemic arterial morphology	2969	GTF2I	ORPHA:904
HP:0011004	Abnormal systemic arterial morphology	3984	LIMK1	ORPHA:904
HP:0011004	Abnormal systemic arterial morphology	9569	GTF2IRD1	ORPHA:904
HP:0011004	Abnormal systemic arterial morphology	155382	VPS37D	ORPHA:904
HP:0011004	Abnormal systemic arterial morphology	155368	METTL27	ORPHA:904
HP:0011004	Abnormal systemic arterial morphology	114049	BUD23	ORPHA:904
HP:0011004	Abnormal systemic arterial morphology	7458	EIF4H	ORPHA:904
HP:0011004	Abnormal systemic arterial morphology	84163	GTF2IRD2	ORPHA:904
HP:0011004	Abnormal systemic arterial morphology	26608	TBL2	ORPHA:904
HP:0011004	Abnormal systemic arterial morphology	653361	NCF1	ORPHA:904
HP:0011004	Abnormal systemic arterial morphology	135886	TMEM270	ORPHA:904
HP:0011004	Abnormal systemic arterial morphology	9031	BAZ1B	ORPHA:904
HP:0011004	Abnormal systemic arterial morphology	2006	ELN	ORPHA:904
HP:0011004	Abnormal systemic arterial morphology	81031	SLC2A10	ORPHA:3342
HP:0011004	Abnormal systemic arterial morphology	523	ATP6V1A	OMIM:617403
HP:0011004	Abnormal systemic arterial morphology	4010	LMX1B	ORPHA:2614
HP:0011004	Abnormal systemic arterial morphology	6899	TBX1	ORPHA:3384
HP:0011004	Abnormal systemic arterial morphology	137814	NKX2-6	ORPHA:3384
HP:0011004	Abnormal systemic arterial morphology	23129	PLXND1	ORPHA:3384
HP:0011004	Abnormal systemic arterial morphology	85465	SELENOI	ORPHA:506353
HP:0011004	Abnormal systemic arterial morphology	4535	MT-ND1	OMIM:535000
HP:0011004	Abnormal systemic arterial morphology	4536	MT-ND2	OMIM:535000
HP:0011004	Abnormal systemic arterial morphology	4538	MT-ND4	OMIM:535000
HP:0011004	Abnormal systemic arterial morphology	4514	MT-CO3	OMIM:535000
HP:0011004	Abnormal systemic arterial morphology	4519	MT-CYB	OMIM:535000
HP:0011004	Abnormal systemic arterial morphology	4540	MT-ND5	OMIM:535000
HP:0011004	Abnormal systemic arterial morphology	4541	MT-ND6	OMIM:535000
HP:0011004	Abnormal systemic arterial morphology	4539	MT-ND4L	OMIM:535000
HP:0011004	Abnormal systemic arterial morphology	4750	NEK1	ORPHA:2751
HP:0011004	Abnormal systemic arterial morphology	2161	F12	ORPHA:330
HP:0011004	Abnormal systemic arterial morphology	7439	BEST1	OMIM:193220
HP:0011004	Abnormal systemic arterial morphology	7287	TULP1	OMIM:600132
HP:0011004	Abnormal systemic arterial morphology	9129	PRPF3	OMIM:601414
HP:0011004	Abnormal systemic arterial morphology	57096	RPGRIP1	OMIM:613826
HP:0011004	Abnormal systemic arterial morphology	54820	NDE1	ORPHA:2177
HP:0011004	Abnormal systemic arterial morphology	427	ASAH1	ORPHA:333
HP:0011004	Abnormal systemic arterial morphology	427	ASAH1	OMIM:228000
HP:0011004	Abnormal systemic arterial morphology	5476	CTSA	ORPHA:351
HP:0011004	Abnormal systemic arterial morphology	5476	CTSA	OMIM:256540
HP:0011004	Abnormal systemic arterial morphology	6609	SMPD1	ORPHA:77293
HP:0011004	Abnormal systemic arterial morphology	6609	SMPD1	OMIM:257200
HP:0011004	Abnormal systemic arterial morphology	3074	HEXB	ORPHA:309155
HP:0011004	Abnormal systemic arterial morphology	3074	HEXB	OMIM:268800
HP:0011004	Abnormal systemic arterial morphology	2517	FUCA1	OMIM:230000
HP:0011004	Abnormal systemic arterial morphology	2720	GLB1	OMIM:230500
HP:0011004	Abnormal systemic arterial morphology	2720	GLB1	OMIM:230650
HP:0011004	Abnormal systemic arterial morphology	2720	GLB1	ORPHA:79255
HP:0011004	Abnormal systemic arterial morphology	2581	GALC	ORPHA:206436
HP:0011004	Abnormal systemic arterial morphology	5660	PSAP	ORPHA:206436
HP:0011004	Abnormal systemic arterial morphology	4758	NEU1	OMIM:256550
HP:0011004	Abnormal systemic arterial morphology	4758	NEU1	ORPHA:93399
HP:0011004	Abnormal systemic arterial morphology	4758	NEU1	ORPHA:812
HP:0011004	Abnormal systemic arterial morphology	4758	NEU1	ORPHA:93400
HP:0011004	Abnormal systemic arterial morphology	3073	HEXA	OMIM:272800
HP:0011004	Abnormal systemic arterial morphology	1615	DARS1	OMIM:615281
HP:0011004	Abnormal systemic arterial morphology	2760	GM2A	ORPHA:309246
HP:0011004	Abnormal systemic arterial morphology	10730	YME1L1	OMIM:617302
HP:0011004	Abnormal systemic arterial morphology	5296	PIK3R2	OMIM:603387
HP:0011004	Abnormal systemic arterial morphology	51726	DNAJB11	ORPHA:730
HP:0011004	Abnormal systemic arterial morphology	23193	GANAB	ORPHA:730
HP:0011004	Abnormal systemic arterial morphology	5310	PKD1	ORPHA:730
HP:0011004	Abnormal systemic arterial morphology	5311	PKD2	ORPHA:730
HP:0011004	Abnormal systemic arterial morphology	29880	ALG5	ORPHA:730
HP:0011004	Abnormal systemic arterial morphology	9742	IFT140	ORPHA:730
HP:0011004	Abnormal systemic arterial morphology	79796	ALG9	ORPHA:730
HP:0011004	Abnormal systemic arterial morphology	80114	BICC1	ORPHA:730
HP:0011004	Abnormal systemic arterial morphology	4052	LTBP1	ORPHA:90349
HP:0011004	Abnormal systemic arterial morphology	30008	EFEMP2	ORPHA:90349
HP:0011004	Abnormal systemic arterial morphology	10516	FBLN5	ORPHA:90349
HP:0011004	Abnormal systemic arterial morphology	659	BMPR2	OMIM:178600
HP:0011004	Abnormal systemic arterial morphology	745	MYRF	OMIM:618280
HP:0011004	Abnormal systemic arterial morphology	129563	DIS3L2	OMIM:267000
HP:0011004	Abnormal systemic arterial morphology	4613	MYCN	ORPHA:391641
HP:0011004	Abnormal systemic arterial morphology	4613	MYCN	OMIM:164280
HP:0011004	Abnormal systemic arterial morphology	56006	SMG9	OMIM:616920
HP:0011004	Abnormal systemic arterial morphology	54916	TMEM260	OMIM:617478
HP:0011004	Abnormal systemic arterial morphology	54487	DGCR8	OMIM:192430
HP:0011004	Abnormal systemic arterial morphology	8214	DGCR6	OMIM:192430
HP:0011004	Abnormal systemic arterial morphology	8220	ESS2	OMIM:192430
HP:0011004	Abnormal systemic arterial morphology	9993	DGCR2	OMIM:192430
HP:0011004	Abnormal systemic arterial morphology	118856	MMP21	OMIM:616749
HP:0011004	Abnormal systemic arterial morphology	9723	SEMA3E	ORPHA:138
HP:0011004	Abnormal systemic arterial morphology	55191	NADSYN1	OMIM:618845
HP:0011004	Abnormal systemic arterial morphology	8496	PPFIBP1	OMIM:620024
HP:0011004	Abnormal systemic arterial morphology	7086	TKT	ORPHA:488618
HP:0011004	Abnormal systemic arterial morphology	57674	RNF213	OMIM:607151
HP:0011004	Abnormal systemic arterial morphology	4774	NFIA	ORPHA:401986
HP:0011004	Abnormal systemic arterial morphology	2982	GUCY1A1	ORPHA:401945
HP:0011004	Abnormal systemic arterial morphology	2982	GUCY1A1	OMIM:615750
HP:0011004	Abnormal systemic arterial morphology	1770	DNAH9	OMIM:618300
HP:0011004	Abnormal systemic arterial morphology	79989	IFT56	OMIM:619534
HP:0011004	Abnormal systemic arterial morphology	25981	DNAH1	OMIM:617577
HP:0011004	Abnormal systemic arterial morphology	93	ACVR2B	OMIM:613751
HP:0011004	Abnormal systemic arterial morphology	80232	WDR26	OMIM:617616
HP:0011004	Abnormal systemic arterial morphology	80232	WDR26	ORPHA:513456
HP:0011004	Abnormal systemic arterial morphology	93627	TBCK	OMIM:616900
HP:0011004	Abnormal systemic arterial morphology	79645	CLXN	OMIM:620642
HP:0011004	Abnormal systemic arterial morphology	9203	ZMYM3	OMIM:301111
HP:0011004	Abnormal systemic arterial morphology	220136	CFAP53	OMIM:614779
HP:0011004	Abnormal systemic arterial morphology	10525	HYOU1	OMIM:233600
HP:0011004	Abnormal systemic arterial morphology	7317	UBA1	OMIM:301054
HP:0011004	Abnormal systemic arterial morphology	3593	IL12B	ORPHA:3287
HP:0011004	Abnormal systemic arterial morphology	3106	HLA-B	ORPHA:3287
HP:0011004	Abnormal systemic arterial morphology	6945	MLX	ORPHA:3287
HP:0011004	Abnormal systemic arterial morphology	51473	DCDC2	ORPHA:84081
HP:0011004	Abnormal systemic arterial morphology	91147	TMEM67	ORPHA:84081
HP:0011004	Abnormal systemic arterial morphology	6772	STAT1	ORPHA:391487
HP:0011004	Abnormal systemic arterial morphology	4629	MYH11	OMIM:132900
HP:0011004	Abnormal systemic arterial morphology	388015	RTL1	ORPHA:96334
HP:0011004	Abnormal systemic arterial morphology	8788	DLK1	ORPHA:96334
HP:0011004	Abnormal systemic arterial morphology	55384	MEG3	ORPHA:96334
HP:0011004	Abnormal systemic arterial morphology	54880	BCOR	OMIM:300166
HP:0011004	Abnormal systemic arterial morphology	6885	MAP3K7	OMIM:157800
HP:0011004	Abnormal systemic arterial morphology	2697	GJA1	ORPHA:2248
HP:0011004	Abnormal systemic arterial morphology	2783	GNB2	OMIM:619503
HP:0011004	Abnormal systemic arterial morphology	57466	SCAF4	OMIM:620511
HP:0011004	Abnormal systemic arterial morphology	5518	PPP2R1A	ORPHA:457284
HP:0011004	Abnormal systemic arterial morphology	10195	ALG3	ORPHA:79321
HP:0011004	Abnormal systemic arterial morphology	4000	LMNA	ORPHA:363618
HP:0011004	Abnormal systemic arterial morphology	348	APOE	ORPHA:412
HP:0011004	Abnormal systemic arterial morphology	1581	CYP7A1	ORPHA:209902
HP:0011004	Abnormal systemic arterial morphology	126792	B3GALT6	ORPHA:536467
HP:0011004	Abnormal systemic arterial morphology	529	ATP6V1E1	OMIM:617402
HP:0011004	Abnormal systemic arterial morphology	92949	ADAMTSL1	ORPHA:521445
HP:0011004	Abnormal systemic arterial morphology	3043	HBB	ORPHA:232
HP:0011004	Abnormal systemic arterial morphology	2202	EFEMP1	ORPHA:98977
HP:0011004	Abnormal systemic arterial morphology	1545	CYP1B1	ORPHA:98977
HP:0011004	Abnormal systemic arterial morphology	4653	MYOC	ORPHA:98977
HP:0011004	Abnormal systemic arterial morphology	3490	IGFBP7	OMIM:614224
HP:0011004	Abnormal systemic arterial morphology	51434	ANAPC7	OMIM:619699
HP:0011004	Abnormal systemic arterial morphology	84667	HES7	OMIM:613686
HP:0011004	Abnormal systemic arterial morphology	5337	PLD1	OMIM:212093
HP:0011004	Abnormal systemic arterial morphology	1656	DDX6	OMIM:618653
HP:0011004	Abnormal systemic arterial morphology	5293	PIK3CD	ORPHA:221139
HP:0011004	Abnormal systemic arterial morphology	90417	KNSTRN	ORPHA:221139
HP:0011004	Abnormal systemic arterial morphology	1387	CREBBP	ORPHA:353277
HP:0011004	Abnormal systemic arterial morphology	2033	EP300	ORPHA:353284
HP:0011004	Abnormal systemic arterial morphology	55033	FKBP14	OMIM:614557
HP:0011004	Abnormal systemic arterial morphology	7528	YY1	OMIM:617557
HP:0011004	Abnormal systemic arterial morphology	168507	PKD1L1	OMIM:617205
HP:0011004	Abnormal systemic arterial morphology	8854	ALDH1A2	OMIM:620025
HP:0011004	Abnormal systemic arterial morphology	6326	SCN2A	ORPHA:293181
HP:0011004	Abnormal systemic arterial morphology	57468	SLC12A5	ORPHA:293181
HP:0011004	Abnormal systemic arterial morphology	23236	PLCB1	ORPHA:293181
HP:0011004	Abnormal systemic arterial morphology	3785	KCNQ2	ORPHA:293181
HP:0011004	Abnormal systemic arterial morphology	57582	KCNT1	ORPHA:293181
HP:0011004	Abnormal systemic arterial morphology	5277	PIGA	ORPHA:293181
HP:0011004	Abnormal systemic arterial morphology	6323	SCN1A	ORPHA:293181
HP:0011004	Abnormal systemic arterial morphology	79751	SLC25A22	ORPHA:293181
HP:0011004	Abnormal systemic arterial morphology	57465	TBC1D24	ORPHA:293181
HP:0011004	Abnormal systemic arterial morphology	2324	FLT4	OMIM:618780
HP:0011004	Abnormal systemic arterial morphology	3913	LAMB2	OMIM:614199
HP:0011004	Abnormal systemic arterial morphology	4854	NOTCH3	ORPHA:136
HP:0011004	Abnormal systemic arterial morphology	5116	PCNT	ORPHA:2637
HP:0011004	Abnormal systemic arterial morphology	55249	YY1AP1	ORPHA:79094
HP:0011004	Abnormal systemic arterial morphology	51816	ADA2	ORPHA:820
HP:0011004	Abnormal systemic arterial morphology	2767	GNA11	ORPHA:1556
HP:0011004	Abnormal systemic arterial morphology	151188	ARL6IP6	ORPHA:1556
HP:0011004	Abnormal systemic arterial morphology	55107	ANO1	OMIM:620687
HP:0011004	Abnormal systemic arterial morphology	165	AEBP1	ORPHA:536532
HP:0011004	Abnormal systemic arterial morphology	165	AEBP1	OMIM:618000
HP:0011004	Abnormal systemic arterial morphology	6392	SDHD	OMIM:168000
HP:0011004	Abnormal systemic arterial morphology	6651	SON	ORPHA:500150
HP:0011004	Abnormal systemic arterial morphology	57688	ZSWIM6	OMIM:603671
HP:0002621	Atherosclerosis	3949	LDLR	ORPHA:391665
HP:0002621	Atherosclerosis	3949	LDLR	OMIM:143890
HP:0002621	Atherosclerosis	255738	PCSK9	ORPHA:391665
HP:0002621	Atherosclerosis	338	APOB	ORPHA:391665
HP:0002621	Atherosclerosis	338	APOB	OMIM:144010
HP:0002621	Atherosclerosis	64240	ABCG5	ORPHA:391665
HP:0002621	Atherosclerosis	64241	ABCG8	ORPHA:391665
HP:0002621	Atherosclerosis	64241	ABCG8	OMIM:210250
HP:0002621	Atherosclerosis	6609	SMPD1	ORPHA:77293
HP:0002621	Atherosclerosis	63036	CELA2A	OMIM:618620
HP:0002621	Atherosclerosis	336	APOA2	OMIM:143890
HP:0002621	Atherosclerosis	2053	EPHX2	OMIM:143890
HP:0002621	Atherosclerosis	10842	PPP1R17	OMIM:143890
HP:0002621	Atherosclerosis	2690	GHR	OMIM:143890
HP:0002621	Atherosclerosis	4629	MYH11	OMIM:132900
HP:0002621	Atherosclerosis	4629	MYH11	ORPHA:229
HP:0002621	Atherosclerosis	4629	MYH11	ORPHA:91387
HP:0002621	Atherosclerosis	79184	BRCC3	ORPHA:280679
HP:0002621	Atherosclerosis	1581	CYP7A1	ORPHA:209902
HP:0002621	Atherosclerosis	2099	ESR1	ORPHA:785
HP:0002621	Atherosclerosis	57104	PNPLA2	ORPHA:565612
HP:0002621	Atherosclerosis	64131	XYLT1	OMIM:264800
HP:0002621	Atherosclerosis	64132	XYLT2	OMIM:264800
HP:0002621	Atherosclerosis	368	ABCC6	OMIM:264800
HP:0002621	Atherosclerosis	4015	LOX	OMIM:617168
HP:0002621	Atherosclerosis	4015	LOX	ORPHA:91387
HP:0002621	Atherosclerosis	57592	ZNF687	OMIM:616833
HP:0002621	Atherosclerosis	7046	TGFBR1	ORPHA:91387
HP:0002621	Atherosclerosis	7048	TGFBR2	ORPHA:91387
HP:0002621	Atherosclerosis	4087	SMAD2	ORPHA:91387
HP:0002621	Atherosclerosis	7043	TGFB3	ORPHA:91387
HP:0002621	Atherosclerosis	4088	SMAD3	ORPHA:91387
HP:0002621	Atherosclerosis	7042	TGFB2	ORPHA:91387
HP:0002621	Atherosclerosis	4089	SMAD4	ORPHA:91387
HP:0002621	Atherosclerosis	2200	FBN1	ORPHA:91387
HP:0002621	Atherosclerosis	59	ACTA2	ORPHA:91387
HP:0002621	Atherosclerosis	5592	PRKG1	ORPHA:91387
HP:0002621	Atherosclerosis	2301	FOXE3	ORPHA:91387
HP:0002621	Atherosclerosis	4144	MAT2A	ORPHA:91387
HP:0002621	Atherosclerosis	23493	HEY2	ORPHA:91387
HP:0002621	Atherosclerosis	8076	MFAP5	ORPHA:91387
HP:0002621	Atherosclerosis	4638	MYLK	ORPHA:91387
HP:0002621	Atherosclerosis	79875	THSD4	ORPHA:91387
HP:0002621	Atherosclerosis	2006	ELN	ORPHA:91387
HP:0002621	Atherosclerosis	4000	LMNA	ORPHA:280365
HP:0002621	Atherosclerosis	4000	LMNA	ORPHA:740
HP:0002621	Atherosclerosis	4000	LMNA	OMIM:151660
HP:0002621	Atherosclerosis	4000	LMNA	ORPHA:2348
HP:0002621	Atherosclerosis	5468	PPARG	ORPHA:79083
HP:0002621	Atherosclerosis	8815	BANF1	OMIM:614008
HP:0002621	Atherosclerosis	19	ABCA1	OMIM:205400
HP:0002621	Atherosclerosis	19	ABCA1	ORPHA:425
HP:0002621	Atherosclerosis	2677	GGCX	OMIM:610842
HP:0002621	Atherosclerosis	2677	GGCX	ORPHA:91135
HP:0002621	Atherosclerosis	7840	ALMS1	OMIM:203800
HP:0002621	Atherosclerosis	7486	WRN	ORPHA:902
HP:0002621	Atherosclerosis	189	AGXT	ORPHA:93598
HP:0002621	Atherosclerosis	335	APOA1	ORPHA:425
HP:0002621	Atherosclerosis	3081	HGD	ORPHA:56
HP:0002621	Atherosclerosis	10269	ZMPSTE24	ORPHA:740
HP:0002621	Atherosclerosis	26119	LDLRAP1	OMIM:603813
HP:0002621	Atherosclerosis	50485	SMARCAL1	ORPHA:1830
HP:0002621	Atherosclerosis	3931	LCAT	ORPHA:79292
HP:0002621	Atherosclerosis	84168	ANTXR1	ORPHA:2067
HP:0002621	Atherosclerosis	55901	THSD1	ORPHA:231160
HP:0002621	Atherosclerosis	7049	TGFBR3	ORPHA:231160
HP:0002621	Atherosclerosis	1281	COL3A1	ORPHA:231160
HP:0002621	Atherosclerosis	83854	ANGPTL6	ORPHA:231160
HP:0002621	Atherosclerosis	2022	ENG	ORPHA:231160
HP:0002621	Atherosclerosis	6309	SC5D	OMIM:607330
HP:0002621	Atherosclerosis	427	ASAH1	ORPHA:333
HP:0002621	Atherosclerosis	2720	GLB1	OMIM:230650
HP:0002621	Atherosclerosis	10577	NPC2	OMIM:607625
HP:0002621	Atherosclerosis	5294	PIK3CG	OMIM:619802
HP:0002621	Atherosclerosis	1439	CSF2RB	ORPHA:264675
HP:0002621	Atherosclerosis	1438	CSF2RA	ORPHA:264675
HP:0002621	Atherosclerosis	3123	HLA-DRB1	ORPHA:747
HP:0002621	Atherosclerosis	4864	NPC1	OMIM:257220
HP:0002621	Atherosclerosis	348	APOE	OMIM:269600
HP:0002621	Atherosclerosis	3988	LIPA	OMIM:278000
HP:0002621	Atherosclerosis	3988	LIPA	ORPHA:75233
HP:0002621	Atherosclerosis	4758	NEU1	OMIM:256550
HP:0002621	Atherosclerosis	1593	CYP27A1	ORPHA:909
HP:0002621	Atherosclerosis	7148	TNXB	ORPHA:230839
HP:0002621	Atherosclerosis	116519	APOA5	OMIM:145750
HP:0002621	Atherosclerosis	4023	LPL	OMIM:238600
HP:0002621	Atherosclerosis	3053	SERPIND1	OMIM:612356
HP:0002621	Atherosclerosis	3990	LIPC	ORPHA:140905
HP:0002621	Atherosclerosis	1161	ERCC8	ORPHA:90324
HP:0002621	Atherosclerosis	2074	ERCC6	ORPHA:90324
HP:0002621	Atherosclerosis	84984	CEP19	OMIM:615703
HP:0002621	Atherosclerosis	338328	GPIHBP1	OMIM:615947
HP:0002621	Atherosclerosis	4205	MEF2A	OMIM:608320
HP:0002621	Atherosclerosis	4040	LRP6	OMIM:610947
HP:0002621	Atherosclerosis	3913	LAMB2	OMIM:614199
HP:0002647	Aortic dissection	26191	PTPN22	ORPHA:397
HP:0002647	Aortic dissection	3106	HLA-B	ORPHA:397
HP:0002647	Aortic dissection	3123	HLA-DRB1	ORPHA:397
HP:0002647	Aortic dissection	8974	P4HA2	ORPHA:397
HP:0002647	Aortic dissection	4088	SMAD3	ORPHA:284984
HP:0002647	Aortic dissection	4088	SMAD3	OMIM:613795
HP:0002647	Aortic dissection	4088	SMAD3	ORPHA:60030
HP:0002647	Aortic dissection	4088	SMAD3	ORPHA:91387
HP:0002647	Aortic dissection	1281	COL3A1	OMIM:618343
HP:0002647	Aortic dissection	1281	COL3A1	ORPHA:286
HP:0002647	Aortic dissection	1281	COL3A1	ORPHA:231160
HP:0002647	Aortic dissection	2200	FBN1	OMIM:154700
HP:0002647	Aortic dissection	2200	FBN1	ORPHA:91387
HP:0002647	Aortic dissection	5167	ENPP1	ORPHA:51608
HP:0002647	Aortic dissection	368	ABCC6	ORPHA:51608
HP:0002647	Aortic dissection	4629	MYH11	OMIM:132900
HP:0002647	Aortic dissection	4629	MYH11	ORPHA:229
HP:0002647	Aortic dissection	4629	MYH11	ORPHA:91387
HP:0002647	Aortic dissection	81031	SLC2A10	ORPHA:3342
HP:0002647	Aortic dissection	5351	PLOD1	ORPHA:1900
HP:0002647	Aortic dissection	633	BGN	OMIM:300989
HP:0002647	Aortic dissection	7046	TGFBR1	ORPHA:60030
HP:0002647	Aortic dissection	7046	TGFBR1	ORPHA:91387
HP:0002647	Aortic dissection	10526	IPO8	ORPHA:60030
HP:0002647	Aortic dissection	7048	TGFBR2	ORPHA:60030
HP:0002647	Aortic dissection	7048	TGFBR2	ORPHA:91387
HP:0002647	Aortic dissection	7042	TGFB2	ORPHA:60030
HP:0002647	Aortic dissection	7042	TGFB2	OMIM:614816
HP:0002647	Aortic dissection	7042	TGFB2	ORPHA:91387
HP:0002647	Aortic dissection	7043	TGFB3	ORPHA:60030
HP:0002647	Aortic dissection	7043	TGFB3	ORPHA:91387
HP:0002647	Aortic dissection	4087	SMAD2	ORPHA:60030
HP:0002647	Aortic dissection	4087	SMAD2	ORPHA:91387
HP:0002647	Aortic dissection	4015	LOX	ORPHA:91387
HP:0002647	Aortic dissection	4089	SMAD4	ORPHA:91387
HP:0002647	Aortic dissection	4089	SMAD4	OMIM:175050
HP:0002647	Aortic dissection	59	ACTA2	ORPHA:91387
HP:0002647	Aortic dissection	5592	PRKG1	ORPHA:91387
HP:0002647	Aortic dissection	2301	FOXE3	ORPHA:91387
HP:0002647	Aortic dissection	4144	MAT2A	ORPHA:91387
HP:0002647	Aortic dissection	23493	HEY2	ORPHA:91387
HP:0002647	Aortic dissection	8076	MFAP5	ORPHA:91387
HP:0002647	Aortic dissection	4638	MYLK	ORPHA:91387
HP:0002647	Aortic dissection	79875	THSD4	ORPHA:91387
HP:0002647	Aortic dissection	2006	ELN	ORPHA:91387
HP:0002647	Aortic dissection	55901	THSD1	ORPHA:231160
HP:0002647	Aortic dissection	7049	TGFBR3	ORPHA:231160
HP:0002647	Aortic dissection	83854	ANGPTL6	ORPHA:231160
HP:0002647	Aortic dissection	2022	ENG	ORPHA:231160
HP:0002647	Aortic dissection	11117	EMILIN1	OMIM:620080
HP:0002647	Aortic dissection	54538	ROBO4	OMIM:618496
HP:0002647	Aortic dissection	4091	SMAD6	OMIM:614823
HP:0002647	Aortic dissection	4091	SMAD6	ORPHA:402075
HP:0002647	Aortic dissection	4851	NOTCH1	ORPHA:402075
HP:0002647	Aortic dissection	1482	NKX2-5	ORPHA:402075
HP:0002647	Aortic dissection	140628	GATA5	ORPHA:402075
HP:0002623	Overriding aorta	10743	RAI1	ORPHA:477817
HP:0002623	Overriding aorta	91754	NEK9	OMIM:617022
HP:0002623	Overriding aorta	23395	LARS2	OMIM:617021
HP:0002623	Overriding aorta	54539	NDUFB11	OMIM:309801
HP:0002623	Overriding aorta	1349	COX7B	OMIM:309801
HP:0002623	Overriding aorta	3052	HCCS	OMIM:309801
HP:0002623	Overriding aorta	23483	TGDS	OMIM:616145
HP:0002623	Overriding aorta	55636	CHD7	OMIM:214800
HP:0002623	Overriding aorta	6804	STX1A	ORPHA:904
HP:0002623	Overriding aorta	7461	CLIP2	ORPHA:904
HP:0002623	Overriding aorta	84277	DNAJC30	ORPHA:904
HP:0002623	Overriding aorta	8468	FKBP6	ORPHA:904
HP:0002623	Overriding aorta	5982	RFC2	ORPHA:904
HP:0002623	Overriding aorta	2969	GTF2I	ORPHA:904
HP:0002623	Overriding aorta	3984	LIMK1	ORPHA:904
HP:0002623	Overriding aorta	9569	GTF2IRD1	ORPHA:904
HP:0002623	Overriding aorta	155382	VPS37D	ORPHA:904
HP:0002623	Overriding aorta	155368	METTL27	ORPHA:904
HP:0002623	Overriding aorta	114049	BUD23	ORPHA:904
HP:0002623	Overriding aorta	7458	EIF4H	ORPHA:904
HP:0002623	Overriding aorta	84163	GTF2IRD2	ORPHA:904
HP:0002623	Overriding aorta	26608	TBL2	ORPHA:904
HP:0002623	Overriding aorta	653361	NCF1	ORPHA:904
HP:0002623	Overriding aorta	135886	TMEM270	ORPHA:904
HP:0002623	Overriding aorta	9031	BAZ1B	ORPHA:904
HP:0002623	Overriding aorta	2006	ELN	ORPHA:904
HP:0002623	Overriding aorta	2263	FGFR2	OMIM:101200
HP:0002624	Abnormal venous morphology	5295	PIK3R1	OMIM:269880
HP:0002624	Abnormal venous morphology	10269	ZMPSTE24	OMIM:608612
HP:0002624	Abnormal venous morphology	716	C1S	OMIM:617174
HP:0002624	Abnormal venous morphology	165	AEBP1	OMIM:618000
HP:0002624	Abnormal venous morphology	29957	SLC25A24	OMIM:612289
HP:0002624	Abnormal venous morphology	92579	G6PC3	OMIM:612541
HP:0002624	Abnormal venous morphology	8815	BANF1	OMIM:614008
HP:0002624	Abnormal venous morphology	5831	PYCR1	OMIM:612940
HP:0002624	Abnormal venous morphology	5831	PYCR1	OMIM:614438
HP:0002624	Abnormal venous morphology	5468	PPARG	ORPHA:528
HP:0002624	Abnormal venous morphology	5468	PPARG	OMIM:604367
HP:0002624	Abnormal venous morphology	10555	AGPAT2	ORPHA:528
HP:0002624	Abnormal venous morphology	284119	CAVIN1	ORPHA:528
HP:0002624	Abnormal venous morphology	26580	BSCL2	ORPHA:528
HP:0002624	Abnormal venous morphology	2353	FOS	ORPHA:528
HP:0002624	Abnormal venous morphology	857	CAV1	ORPHA:528
HP:0002624	Abnormal venous morphology	25839	COG4	OMIM:618150
HP:0002624	Abnormal venous morphology	715	C1R	OMIM:130080
HP:0002624	Abnormal venous morphology	221496	LEMD2	OMIM:619322
HP:0002624	Abnormal venous morphology	5159	PDGFRB	OMIM:601812
HP:0002624	Abnormal venous morphology	4000	LMNA	OMIM:151660
HP:0002624	Abnormal venous morphology	4000	LMNA	ORPHA:79474
HP:0002624	Abnormal venous morphology	91252	SLC39A13	OMIM:612350
HP:0002624	Abnormal venous morphology	529	ATP6V1E1	OMIM:617402
HP:0002624	Abnormal venous morphology	84919	PPP1R15B	OMIM:616817
HP:0002624	Abnormal venous morphology	7424	VEGFC	OMIM:615907
HP:0002624	Abnormal venous morphology	84168	ANTXR1	OMIM:230740
HP:0002624	Abnormal venous morphology	9791	PTDSS1	OMIM:151050
HP:0002624	Abnormal venous morphology	11128	POLR3A	OMIM:264090
HP:0002624	Abnormal venous morphology	11128	POLR3A	ORPHA:3455
HP:0002624	Abnormal venous morphology	7428	VHL	OMIM:263400
HP:0002624	Abnormal venous morphology	2629	GBA1	ORPHA:2072
HP:0002624	Abnormal venous morphology	9158	FIBP	ORPHA:500095
HP:0002624	Abnormal venous morphology	9158	FIBP	OMIM:617107
HP:0002624	Abnormal venous morphology	4088	SMAD3	OMIM:613795
HP:0002624	Abnormal venous morphology	4087	SMAD2	OMIM:619656
HP:0002624	Abnormal venous morphology	2303	FOXC2	ORPHA:33001
HP:0002624	Abnormal venous morphology	2303	FOXC2	OMIM:153400
HP:0002624	Abnormal venous morphology	2050	EPHB4	ORPHA:90186
HP:0002624	Abnormal venous morphology	2050	EPHB4	OMIM:617300
HP:0002624	Abnormal venous morphology	1312	COMT	ORPHA:567
HP:0002624	Abnormal venous morphology	221037	JMJD1C	ORPHA:567
HP:0002624	Abnormal venous morphology	2812	GP1BB	ORPHA:567
HP:0002624	Abnormal venous morphology	6239	RREB1	ORPHA:567
HP:0002624	Abnormal venous morphology	6899	TBX1	ORPHA:567
HP:0002624	Abnormal venous morphology	7290	HIRA	ORPHA:567
HP:0002624	Abnormal venous morphology	9632	SEC24C	ORPHA:567
HP:0002624	Abnormal venous morphology	7353	UFD1	ORPHA:567
HP:0002624	Abnormal venous morphology	421	ARVCF	ORPHA:567
HP:0002624	Abnormal venous morphology	55315	SLC29A3	OMIM:602782
HP:0002624	Abnormal venous morphology	55315	SLC29A3	ORPHA:168569
HP:0002624	Abnormal venous morphology	3798	KIF5A	ORPHA:100991
HP:0002624	Abnormal venous morphology	7042	TGFB2	OMIM:614816
HP:0002624	Abnormal venous morphology	1188	CLCNKB	ORPHA:358
HP:0002624	Abnormal venous morphology	6559	SLC12A3	ORPHA:358
HP:0002624	Abnormal venous morphology	4854	NOTCH3	OMIM:125310
HP:0002624	Abnormal venous morphology	5290	PIK3CA	ORPHA:276280
HP:0002624	Abnormal venous morphology	2324	FLT4	ORPHA:79452
HP:0002624	Abnormal venous morphology	9780	PIEZO1	ORPHA:79452
HP:0002624	Abnormal venous morphology	285	ANGPT2	ORPHA:79452
HP:0002624	Abnormal venous morphology	57165	GJC2	ORPHA:79452
HP:0002624	Abnormal venous morphology	5351	PLOD1	ORPHA:1900
HP:0002624	Abnormal venous morphology	2022	ENG	OMIM:187300
HP:0002624	Abnormal venous morphology	1281	COL3A1	ORPHA:286
HP:0002624	Abnormal venous morphology	538	ATP7A	ORPHA:565
HP:0002624	Abnormal venous morphology	538	ATP7A	ORPHA:198
HP:0002624	Abnormal venous morphology	7058	THBS2	OMIM:620865
HP:0002624	Abnormal venous morphology	5728	PTEN	ORPHA:2969
HP:0002624	Abnormal venous morphology	5728	PTEN	ORPHA:137608
HP:0002624	Abnormal venous morphology	55109	AGGF1	ORPHA:90308
HP:0002624	Abnormal venous morphology	4693	NDP	ORPHA:649
HP:0002624	Abnormal venous morphology	5627	PROS1	ORPHA:743
HP:0002624	Abnormal venous morphology	5624	PROC	ORPHA:745
HP:0002624	Abnormal venous morphology	2776	GNAQ	ORPHA:624
HP:0002624	Abnormal venous morphology	64093	SMOC1	ORPHA:1106
HP:0002624	Abnormal venous morphology	128	ADH5	OMIM:619151
HP:0002624	Abnormal venous morphology	2294	FOXF1	OMIM:265380
HP:0002624	Abnormal venous morphology	7490	WT1	OMIM:608978
HP:0002624	Abnormal venous morphology	2033	EP300	OMIM:180849
HP:0002624	Abnormal venous morphology	1387	CREBBP	OMIM:180849
HP:0002624	Abnormal venous morphology	54916	TMEM260	OMIM:617478
HP:0002624	Abnormal venous morphology	79645	CLXN	OMIM:620642
HP:0002624	Abnormal venous morphology	6910	TBX5	OMIM:142900
HP:0002624	Abnormal venous morphology	10743	RAI1	ORPHA:477817
HP:0002624	Abnormal venous morphology	10847	SRCAP	OMIM:136140
HP:0002624	Abnormal venous morphology	10847	SRCAP	ORPHA:2044
HP:0002624	Abnormal venous morphology	7547	ZIC3	OMIM:314390
HP:0002624	Abnormal venous morphology	2187	FANCB	OMIM:314390
HP:0002624	Abnormal venous morphology	55181	SMG8	OMIM:619268
HP:0002624	Abnormal venous morphology	374879	ZNF699	OMIM:619488
HP:0002624	Abnormal venous morphology	7386	UQCRFS1	OMIM:618775
HP:0002624	Abnormal venous morphology	1822	ATN1	OMIM:618494
HP:0002624	Abnormal venous morphology	4281	MID1	ORPHA:2745
HP:0002624	Abnormal venous morphology	2783	GNB2	OMIM:619503
HP:0002624	Abnormal venous morphology	1161	ERCC8	OMIM:216400
HP:0002624	Abnormal venous morphology	8241	RBM10	ORPHA:2886
HP:0002624	Abnormal venous morphology	7319	UBE2A	ORPHA:163956
HP:0002624	Abnormal venous morphology	10283	CWC27	ORPHA:166035
HP:0002624	Abnormal venous morphology	23545	ATP6V0A2	ORPHA:2834
HP:0002624	Abnormal venous morphology	23545	ATP6V0A2	ORPHA:357074
HP:0002624	Abnormal venous morphology	523	ATP6V1A	ORPHA:357074
HP:0002624	Abnormal venous morphology	54892	NCAPG2	OMIM:618460
HP:0002624	Abnormal venous morphology	8772	FADD	OMIM:613759
HP:0002624	Abnormal venous morphology	81857	MED25	ORPHA:464738
HP:0002624	Abnormal venous morphology	100128908	CIROP	OMIM:619702
HP:0002624	Abnormal venous morphology	5567	PRKACB	OMIM:619143
HP:0002624	Abnormal venous morphology	51780	KDM3B	OMIM:618846
HP:0002624	Abnormal venous morphology	93	ACVR2B	OMIM:613751
HP:0002624	Abnormal venous morphology	118856	MMP21	OMIM:616749
HP:0002624	Abnormal venous morphology	11235	PDCD10	ORPHA:221061
HP:0002624	Abnormal venous morphology	83605	CCM2	ORPHA:221061
HP:0002624	Abnormal venous morphology	889	KRIT1	ORPHA:221061
HP:0002624	Abnormal venous morphology	11146	GLMN	ORPHA:83454
HP:0002624	Abnormal venous morphology	4488	MSX2	ORPHA:60015
HP:0002624	Abnormal venous morphology	60529	ALX4	ORPHA:60015
HP:0002624	Abnormal venous morphology	207	AKT1	OMIM:176920
HP:0002624	Abnormal venous morphology	207	AKT1	ORPHA:744
HP:0002624	Abnormal venous morphology	5921	RASA1	ORPHA:90307
HP:0002624	Abnormal venous morphology	7010	TEK	OMIM:600195
HP:0002624	Abnormal venous morphology	137814	NKX2-6	ORPHA:3384
HP:0002624	Abnormal venous morphology	23129	PLXND1	ORPHA:3384
HP:0002624	Abnormal venous morphology	25981	DNAH1	ORPHA:244
HP:0002624	Abnormal venous morphology	115948	ODAD3	ORPHA:244
HP:0002624	Abnormal venous morphology	54768	HYDIN	ORPHA:244
HP:0002624	Abnormal venous morphology	352909	DNAAF3	ORPHA:244
HP:0002624	Abnormal venous morphology	27148	STK36	ORPHA:244
HP:0002624	Abnormal venous morphology	51314	NME8	ORPHA:244
HP:0002624	Abnormal venous morphology	92749	DRC1	ORPHA:244
HP:0002624	Abnormal venous morphology	54970	TTC12	ORPHA:244
HP:0002624	Abnormal venous morphology	152110	NEK10	ORPHA:244
HP:0002624	Abnormal venous morphology	8481	OFD1	ORPHA:244
HP:0002624	Abnormal venous morphology	2302	FOXJ1	ORPHA:244
HP:0002624	Abnormal venous morphology	221421	RSPH9	ORPHA:244
HP:0002624	Abnormal venous morphology	85478	CCDC65	ORPHA:244
HP:0002624	Abnormal venous morphology	55036	CCDC40	ORPHA:244
HP:0002624	Abnormal venous morphology	51364	ZMYND10	ORPHA:244
HP:0002624	Abnormal venous morphology	64446	DNAI2	ORPHA:244
HP:0002624	Abnormal venous morphology	8382	NME5	ORPHA:244
HP:0002624	Abnormal venous morphology	6674	SPAG1	ORPHA:244
HP:0002624	Abnormal venous morphology	83544	DNAL1	ORPHA:244
HP:0002624	Abnormal venous morphology	89765	RSPH1	ORPHA:244
HP:0002624	Abnormal venous morphology	83538	ODAD4	ORPHA:244
HP:0002624	Abnormal venous morphology	200373	CFAP221	ORPHA:244
HP:0002624	Abnormal venous morphology	374407	DNAJB13	ORPHA:244
HP:0002624	Abnormal venous morphology	55172	DNAAF2	ORPHA:244
HP:0002624	Abnormal venous morphology	161582	DNAAF4	ORPHA:244
HP:0002624	Abnormal venous morphology	2622	GAS8	ORPHA:244
HP:0002624	Abnormal venous morphology	23639	DNAAF11	ORPHA:244
HP:0002624	Abnormal venous morphology	27019	DNAI1	ORPHA:244
HP:0002624	Abnormal venous morphology	345895	RSPH4A	ORPHA:244
HP:0002624	Abnormal venous morphology	54919	DNAAF5	ORPHA:244
HP:0002624	Abnormal venous morphology	6103	RPGR	ORPHA:244
HP:0002624	Abnormal venous morphology	85452	CFAP74	ORPHA:244
HP:0002624	Abnormal venous morphology	93233	ODAD1	ORPHA:244
HP:0002624	Abnormal venous morphology	55130	ODAD2	ORPHA:244
HP:0002624	Abnormal venous morphology	1767	DNAH5	ORPHA:244
HP:0002624	Abnormal venous morphology	83861	RSPH3	ORPHA:244
HP:0002624	Abnormal venous morphology	345643	MCIDAS	ORPHA:244
HP:0002624	Abnormal venous morphology	56683	CFAP298	ORPHA:244
HP:0002624	Abnormal venous morphology	79925	SPEF2	ORPHA:244
HP:0002624	Abnormal venous morphology	10309	CCNO	ORPHA:244
HP:0002624	Abnormal venous morphology	115399	LRRC56	ORPHA:244
HP:0002624	Abnormal venous morphology	139212	DNAAF6	ORPHA:244
HP:0002624	Abnormal venous morphology	123872	DNAAF1	ORPHA:244
HP:0002624	Abnormal venous morphology	85016	CFAP300	ORPHA:244
HP:0002624	Abnormal venous morphology	339829	CCDC39	ORPHA:244
HP:0002624	Abnormal venous morphology	8701	DNAH11	ORPHA:244
HP:0002624	Abnormal venous morphology	1770	DNAH9	ORPHA:244
HP:0002624	Abnormal venous morphology	246176	GAS2L2	ORPHA:244
HP:0002624	Abnormal venous morphology	2859	GPR35	ORPHA:171
HP:0002624	Abnormal venous morphology	10507	SEMA4D	ORPHA:171
HP:0002624	Abnormal venous morphology	4485	MST1	ORPHA:171
HP:0002624	Abnormal venous morphology	6925	TCF4	ORPHA:171
HP:0002624	Abnormal venous morphology	5580	PRKCD	OMIM:615559
HP:0002624	Abnormal venous morphology	8314	BAP1	ORPHA:50251
HP:0002624	Abnormal venous morphology	10128	LRPPRC	OMIM:220111
HP:0002624	Abnormal venous morphology	55997	CFC1	OMIM:605376
HP:0002625	Deep venous thrombosis	5373	PMM2	ORPHA:79318
HP:0002625	Deep venous thrombosis	4524	MTHFR	ORPHA:395
HP:0002625	Deep venous thrombosis	4524	MTHFR	OMIM:188050
HP:0002625	Deep venous thrombosis	2153	F5	OMIM:188055
HP:0002625	Deep venous thrombosis	2162	F13A1	OMIM:188050
HP:0002625	Deep venous thrombosis	2147	F2	OMIM:188050
HP:0002625	Deep venous thrombosis	3026	HABP2	OMIM:188050
HP:0002625	Deep venous thrombosis	9780	PIEZO1	OMIM:616843
HP:0002625	Deep venous thrombosis	2158	F9	OMIM:300807
HP:0002625	Deep venous thrombosis	7056	THBD	OMIM:614486
HP:0002625	Deep venous thrombosis	25974	MMACHC	ORPHA:79282
HP:0002625	Deep venous thrombosis	462	SERPINC1	OMIM:613118
HP:0002625	Deep venous thrombosis	462	SERPINC1	ORPHA:82
HP:0002625	Deep venous thrombosis	29929	ALG6	ORPHA:79320
HP:0002625	Deep venous thrombosis	5627	PROS1	ORPHA:743
HP:0002625	Deep venous thrombosis	5277	PIGA	ORPHA:447
HP:0002625	Deep venous thrombosis	7317	UBA1	OMIM:301054
HP:0002625	Deep venous thrombosis	207	AKT1	OMIM:176920
HP:0002625	Deep venous thrombosis	2034	EPAS1	OMIM:611783
HP:0002625	Deep venous thrombosis	4552	MTRR	ORPHA:2169
HP:0002625	Deep venous thrombosis	5624	PROC	OMIM:176860
HP:0002625	Deep venous thrombosis	2157	F8	OMIM:301071
HP:0002625	Deep venous thrombosis	90	ACVR1	ORPHA:337
HP:0002625	Deep venous thrombosis	3053	SERPIND1	OMIM:612356
HP:0002626	Venous varicosities of celiac and mesenteric vessels	2022	ENG	OMIM:187300
HP:0002627	Right aortic arch with mirror image branching	6899	TBX1	OMIM:188400
HP:0002627	Right aortic arch with mirror image branching	6899	TBX1	OMIM:192430
HP:0002627	Right aortic arch with mirror image branching	78987	CRELD1	OMIM:606217
HP:0002627	Right aortic arch with mirror image branching	54487	DGCR8	OMIM:192430
HP:0002627	Right aortic arch with mirror image branching	8214	DGCR6	OMIM:192430
HP:0002627	Right aortic arch with mirror image branching	8220	ESS2	OMIM:192430
HP:0002627	Right aortic arch with mirror image branching	9993	DGCR2	OMIM:192430
HP:0002627	Right aortic arch with mirror image branching	64220	STRA6	OMIM:601186
HP:0002242	Abnormal intestine morphology	92002	CCNQ	OMIM:300707
HP:0002242	Abnormal intestine morphology	84172	POLR1B	ORPHA:861
HP:0002242	Abnormal intestine morphology	9533	POLR1C	ORPHA:861
HP:0002242	Abnormal intestine morphology	51082	POLR1D	ORPHA:861
HP:0002242	Abnormal intestine morphology	6949	TCOF1	ORPHA:861
HP:0002242	Abnormal intestine morphology	9401	RECQL4	OMIM:218600
HP:0002242	Abnormal intestine morphology	267010	RNU12	OMIM:603116
HP:0002242	Abnormal intestine morphology	374654	KIF7	OMIM:200990
HP:0002242	Abnormal intestine morphology	51339	DACT1	OMIM:617466
HP:0002242	Abnormal intestine morphology	51339	DACT1	ORPHA:857
HP:0002242	Abnormal intestine morphology	1642	DDB1	OMIM:619426
HP:0002242	Abnormal intestine morphology	158326	FREM1	OMIM:608980
HP:0002242	Abnormal intestine morphology	55650	PIGV	OMIM:239300
HP:0002242	Abnormal intestine morphology	54539	NDUFB11	ORPHA:2556
HP:0002242	Abnormal intestine morphology	1349	COX7B	ORPHA:2556
HP:0002242	Abnormal intestine morphology	3052	HCCS	ORPHA:2556
HP:0002242	Abnormal intestine morphology	54808	DYM	OMIM:223800
HP:0002242	Abnormal intestine morphology	6197	RPS6KA3	OMIM:303600
HP:0002242	Abnormal intestine morphology	3981	LIG4	ORPHA:235
HP:0002242	Abnormal intestine morphology	54888	NSUN2	ORPHA:235
HP:0002242	Abnormal intestine morphology	8260	NAA10	OMIM:309800
HP:0002242	Abnormal intestine morphology	54496	PRMT7	OMIM:617157
HP:0002242	Abnormal intestine morphology	4000	LMNA	OMIM:619793
HP:0002242	Abnormal intestine morphology	3643	INSR	OMIM:246200
HP:0002242	Abnormal intestine morphology	3643	INSR	ORPHA:508
HP:0002242	Abnormal intestine morphology	8425	LTBP4	OMIM:613177
HP:0002242	Abnormal intestine morphology	1277	COL1A1	ORPHA:287
HP:0002242	Abnormal intestine morphology	1290	COL5A2	ORPHA:287
HP:0002242	Abnormal intestine morphology	2947	GSTM3	ORPHA:586
HP:0002242	Abnormal intestine morphology	2729	GCLC	ORPHA:586
HP:0002242	Abnormal intestine morphology	1084	CEACAM3	ORPHA:586
HP:0002242	Abnormal intestine morphology	6556	SLC11A1	ORPHA:586
HP:0002242	Abnormal intestine morphology	51164	DCTN4	ORPHA:586
HP:0002242	Abnormal intestine morphology	3783	KCNN4	ORPHA:586
HP:0002242	Abnormal intestine morphology	4282	MIF	ORPHA:586
HP:0002242	Abnormal intestine morphology	1909	EDNRA	ORPHA:586
HP:0002242	Abnormal intestine morphology	3162	HMOX1	ORPHA:586
HP:0002242	Abnormal intestine morphology	115019	SLC26A9	ORPHA:586
HP:0002242	Abnormal intestine morphology	3077	HFE	ORPHA:586
HP:0002242	Abnormal intestine morphology	11254	SLC6A14	ORPHA:586
HP:0002242	Abnormal intestine morphology	5265	SERPINA1	ORPHA:586
HP:0002242	Abnormal intestine morphology	22802	CLCA4	ORPHA:586
HP:0002242	Abnormal intestine morphology	4680	CEACAM6	ORPHA:586
HP:0002242	Abnormal intestine morphology	7543	ZFX	OMIM:301118
HP:0002242	Abnormal intestine morphology	7454	WAS	OMIM:301000
HP:0002242	Abnormal intestine morphology	7454	WAS	ORPHA:906
HP:0002242	Abnormal intestine morphology	57680	CHD8	OMIM:615032
HP:0002242	Abnormal intestine morphology	331	XIAP	OMIM:300635
HP:0002242	Abnormal intestine morphology	331	XIAP	ORPHA:538934
HP:0002242	Abnormal intestine morphology	4688	NCF2	OMIM:233710
HP:0002242	Abnormal intestine morphology	5243	ABCB1	OMIM:612244
HP:0002242	Abnormal intestine morphology	3257	HPS1	OMIM:203300
HP:0002242	Abnormal intestine morphology	987	LRBA	OMIM:614700
HP:0002242	Abnormal intestine morphology	7456	WIPF1	ORPHA:906
HP:0002242	Abnormal intestine morphology	8737	RIPK1	OMIM:618108
HP:0002242	Abnormal intestine morphology	2542	SLC37A4	OMIM:232220
HP:0002242	Abnormal intestine morphology	2542	SLC37A4	ORPHA:79259
HP:0002242	Abnormal intestine morphology	2542	SLC37A4	OMIM:232240
HP:0002242	Abnormal intestine morphology	3106	HLA-B	ORPHA:29207
HP:0002242	Abnormal intestine morphology	3106	HLA-B	OMIM:106300
HP:0002242	Abnormal intestine morphology	59067	IL21	OMIM:615767
HP:0002242	Abnormal intestine morphology	2165	F13B	ORPHA:331
HP:0002242	Abnormal intestine morphology	2162	F13A1	ORPHA:331
HP:0002242	Abnormal intestine morphology	3123	HLA-DRB1	OMIM:181000
HP:0002242	Abnormal intestine morphology	55612	FERMT1	ORPHA:2908
HP:0002242	Abnormal intestine morphology	10616	RBCK1	OMIM:615895
HP:0002242	Abnormal intestine morphology	6550	SLC9A3	OMIM:616868
HP:0002242	Abnormal intestine morphology	5777	PTPN6	ORPHA:3243
HP:0002242	Abnormal intestine morphology	10095	ARPC1B	OMIM:617718
HP:0002242	Abnormal intestine morphology	2000	ELF4	OMIM:301074
HP:0002242	Abnormal intestine morphology	57511	COG6	OMIM:614576
HP:0002242	Abnormal intestine morphology	345611	IRGM	OMIM:612278
HP:0002242	Abnormal intestine morphology	8517	IKBKG	ORPHA:98813
HP:0002242	Abnormal intestine morphology	4792	NFKBIA	ORPHA:98813
HP:0002242	Abnormal intestine morphology	64858	DCLRE1B	OMIM:620133
HP:0002242	Abnormal intestine morphology	2395	FXN	ORPHA:95
HP:0002242	Abnormal intestine morphology	4854	NOTCH3	ORPHA:2591
HP:0002242	Abnormal intestine morphology	5159	PDGFRB	ORPHA:2591
HP:0002242	Abnormal intestine morphology	6772	STAT1	ORPHA:391487
HP:0002242	Abnormal intestine morphology	22900	CARD8	OMIM:619079
HP:0002242	Abnormal intestine morphology	6774	STAT3	OMIM:615952
HP:0002242	Abnormal intestine morphology	50943	FOXP3	ORPHA:37042
HP:0002242	Abnormal intestine morphology	5979	RET	ORPHA:1848
HP:0002242	Abnormal intestine morphology	8516	ITGA8	ORPHA:1848
HP:0002242	Abnormal intestine morphology	26281	FGF20	ORPHA:1848
HP:0002242	Abnormal intestine morphology	2674	GFRA1	ORPHA:1848
HP:0002242	Abnormal intestine morphology	7484	WNT9B	ORPHA:1848
HP:0002242	Abnormal intestine morphology	80000	GREB1L	ORPHA:1848
HP:0002242	Abnormal intestine morphology	5590	PRKCZ	ORPHA:1606
HP:0002242	Abnormal intestine morphology	2563	GABRD	ORPHA:1606
HP:0002242	Abnormal intestine morphology	23013	SPEN	ORPHA:1606
HP:0002242	Abnormal intestine morphology	8510	MMP23B	ORPHA:1606
HP:0002242	Abnormal intestine morphology	7798	LUZP1	ORPHA:1606
HP:0002242	Abnormal intestine morphology	6497	SKI	ORPHA:1606
HP:0002242	Abnormal intestine morphology	10630	PDPN	ORPHA:1606
HP:0002242	Abnormal intestine morphology	3339	HSPG2	ORPHA:1606
HP:0002242	Abnormal intestine morphology	10277	UBE4B	ORPHA:1606
HP:0002242	Abnormal intestine morphology	8514	KCNAB2	ORPHA:1606
HP:0002242	Abnormal intestine morphology	473	RERE	ORPHA:1606
HP:0002242	Abnormal intestine morphology	63976	PRDM16	ORPHA:1606
HP:0002242	Abnormal intestine morphology	54897	CASZ1	ORPHA:1606
HP:0002242	Abnormal intestine morphology	83737	ITCH	ORPHA:228426
HP:0002242	Abnormal intestine morphology	1281	COL3A1	ORPHA:286
HP:0002242	Abnormal intestine morphology	1604	CD55	OMIM:226300
HP:0002242	Abnormal intestine morphology	162	AP1B1	ORPHA:171851
HP:0002242	Abnormal intestine morphology	1174	AP1S1	ORPHA:171851
HP:0002242	Abnormal intestine morphology	5728	PTEN	ORPHA:397596
HP:0002242	Abnormal intestine morphology	5293	PIK3CD	ORPHA:397596
HP:0002242	Abnormal intestine morphology	5295	PIK3R1	ORPHA:397596
HP:0002242	Abnormal intestine morphology	50485	SMARCAL1	ORPHA:1830
HP:0002242	Abnormal intestine morphology	3110	MNX1	ORPHA:1552
HP:0002242	Abnormal intestine morphology	917	CD3G	OMIM:615607
HP:0002242	Abnormal intestine morphology	4645	MYO5B	OMIM:251850
HP:0002242	Abnormal intestine morphology	1908	EDN3	ORPHA:897
HP:0002242	Abnormal intestine morphology	4286	MITF	ORPHA:897
HP:0002242	Abnormal intestine morphology	1910	EDNRB	ORPHA:897
HP:0002242	Abnormal intestine morphology	6663	SOX10	ORPHA:897
HP:0002242	Abnormal intestine morphology	83483	PLVAP	OMIM:618183
HP:0002242	Abnormal intestine morphology	4351	MPI	ORPHA:79319
HP:0002242	Abnormal intestine morphology	4351	MPI	OMIM:602579
HP:0002242	Abnormal intestine morphology	54914	FOCAD	OMIM:619991
HP:0002242	Abnormal intestine morphology	5286	PIK3C2A	OMIM:618440
HP:0002242	Abnormal intestine morphology	29929	ALG6	ORPHA:79320
HP:0002242	Abnormal intestine morphology	56052	ALG1	ORPHA:79327
HP:0002242	Abnormal intestine morphology	100303755	PET117	OMIM:619063
HP:0002242	Abnormal intestine morphology	9508	ADAMTS3	OMIM:618154
HP:0002242	Abnormal intestine morphology	8694	DGAT1	OMIM:615863
HP:0002242	Abnormal intestine morphology	84342	COG8	ORPHA:95428
HP:0002242	Abnormal intestine morphology	29760	BLNK	OMIM:613502
HP:0002242	Abnormal intestine morphology	79053	ALG8	OMIM:608104
HP:0002242	Abnormal intestine morphology	199221	DZIP1L	ORPHA:731
HP:0002242	Abnormal intestine morphology	5314	PKHD1	ORPHA:731
HP:0002242	Abnormal intestine morphology	7852	CXCR4	ORPHA:51636
HP:0002242	Abnormal intestine morphology	80144	FRAS1	OMIM:219000
HP:0002242	Abnormal intestine morphology	404672	GTF2H5	OMIM:616395
HP:0002242	Abnormal intestine morphology	10459	MAD2L2	ORPHA:84
HP:0002242	Abnormal intestine morphology	7516	XRCC2	ORPHA:84
HP:0002242	Abnormal intestine morphology	29089	UBE2T	ORPHA:84
HP:0002242	Abnormal intestine morphology	55120	FANCL	ORPHA:84
HP:0002242	Abnormal intestine morphology	2177	FANCD2	ORPHA:84
HP:0002242	Abnormal intestine morphology	2175	FANCA	ORPHA:84
HP:0002242	Abnormal intestine morphology	2176	FANCC	ORPHA:84
HP:0002242	Abnormal intestine morphology	2178	FANCE	ORPHA:84
HP:0002242	Abnormal intestine morphology	2189	FANCG	ORPHA:84
HP:0002242	Abnormal intestine morphology	5888	RAD51	ORPHA:84
HP:0002242	Abnormal intestine morphology	83990	BRIP1	ORPHA:84
HP:0002242	Abnormal intestine morphology	57697	FANCM	ORPHA:84
HP:0002242	Abnormal intestine morphology	84464	SLX4	ORPHA:84
HP:0002242	Abnormal intestine morphology	2072	ERCC4	ORPHA:84
HP:0002242	Abnormal intestine morphology	9939	RBM8A	OMIM:274000
HP:0002242	Abnormal intestine morphology	8241	RBM10	ORPHA:2886
HP:0002242	Abnormal intestine morphology	2188	FANCF	OMIM:603467
HP:0002242	Abnormal intestine morphology	7547	ZIC3	OMIM:306955
HP:0002242	Abnormal intestine morphology	2260	FGFR1	ORPHA:280200
HP:0002242	Abnormal intestine morphology	28514	DLL1	ORPHA:280200
HP:0002242	Abnormal intestine morphology	2253	FGF8	ORPHA:280200
HP:0002242	Abnormal intestine morphology	6496	SIX3	ORPHA:280200
HP:0002242	Abnormal intestine morphology	7050	TGIF1	ORPHA:280200
HP:0002242	Abnormal intestine morphology	6469	SHH	ORPHA:280200
HP:0002242	Abnormal intestine morphology	51684	SUFU	ORPHA:280200
HP:0002242	Abnormal intestine morphology	7546	ZIC2	ORPHA:280200
HP:0002242	Abnormal intestine morphology	2619	GAS1	ORPHA:280200
HP:0002242	Abnormal intestine morphology	84976	DISP1	ORPHA:280200
HP:0002242	Abnormal intestine morphology	2736	GLI2	ORPHA:280200
HP:0002242	Abnormal intestine morphology	8928	FOXH1	ORPHA:280200
HP:0002242	Abnormal intestine morphology	6997	CRIPTO	ORPHA:280200
HP:0002242	Abnormal intestine morphology	5727	PTCH1	ORPHA:280200
HP:0002242	Abnormal intestine morphology	50937	CDON	ORPHA:280200
HP:0002242	Abnormal intestine morphology	10735	STAG2	OMIM:301043
HP:0002242	Abnormal intestine morphology	4613	MYCN	ORPHA:391641
HP:0002242	Abnormal intestine morphology	4613	MYCN	OMIM:164280
HP:0002242	Abnormal intestine morphology	2187	FANCB	OMIM:300514
HP:0002242	Abnormal intestine morphology	51780	KDM3B	OMIM:618846
HP:0002242	Abnormal intestine morphology	25914	RTTN	ORPHA:468631
HP:0002242	Abnormal intestine morphology	1859	DYRK1A	ORPHA:464311
HP:0002242	Abnormal intestine morphology	6299	SALL1	OMIM:107480
HP:0002242	Abnormal intestine morphology	55159	RFWD3	OMIM:617784
HP:0002242	Abnormal intestine morphology	55215	FANCI	OMIM:609053
HP:0002242	Abnormal intestine morphology	51729	WBP11	OMIM:619227
HP:0002242	Abnormal intestine morphology	55636	CHD7	OMIM:214800
HP:0002242	Abnormal intestine morphology	9968	MED12	ORPHA:93932
HP:0002242	Abnormal intestine morphology	79651	RHBDF2	ORPHA:2198
HP:0002242	Abnormal intestine morphology	25970	SH2B1	ORPHA:261222
HP:0002242	Abnormal intestine morphology	10262	SF3B4	OMIM:154400
HP:0002242	Abnormal intestine morphology	26128	KIFBP	OMIM:609460
HP:0002242	Abnormal intestine morphology	26128	KIFBP	ORPHA:66629
HP:0002242	Abnormal intestine morphology	64324	NSD1	ORPHA:821
HP:0002242	Abnormal intestine morphology	10297	APC2	ORPHA:821
HP:0002242	Abnormal intestine morphology	627	BDNF	ORPHA:661
HP:0002242	Abnormal intestine morphology	10660	LBX1	ORPHA:661
HP:0002242	Abnormal intestine morphology	283446	MYO1H	ORPHA:661
HP:0002242	Abnormal intestine morphology	8929	PHOX2B	ORPHA:661
HP:0002242	Abnormal intestine morphology	8929	PHOX2B	ORPHA:99803
HP:0002242	Abnormal intestine morphology	8929	PHOX2B	ORPHA:2151
HP:0002242	Abnormal intestine morphology	8929	PHOX2B	OMIM:209880
HP:0002242	Abnormal intestine morphology	8929	PHOX2B	OMIM:613013
HP:0002242	Abnormal intestine morphology	23322	RPGRIP1L	ORPHA:220497
HP:0002242	Abnormal intestine morphology	65062	TMEM237	ORPHA:220497
HP:0002242	Abnormal intestine morphology	65062	TMEM237	ORPHA:2318
HP:0002242	Abnormal intestine morphology	65062	TMEM237	ORPHA:475
HP:0002242	Abnormal intestine morphology	83479	DDX59	OMIM:174300
HP:0002242	Abnormal intestine morphology	83479	DDX59	ORPHA:2919
HP:0002242	Abnormal intestine morphology	54806	AHI1	ORPHA:220493
HP:0002242	Abnormal intestine morphology	54806	AHI1	ORPHA:475
HP:0002242	Abnormal intestine morphology	56623	INPP5E	ORPHA:220493
HP:0002242	Abnormal intestine morphology	56623	INPP5E	ORPHA:475
HP:0002242	Abnormal intestine morphology	153241	CEP120	ORPHA:220493
HP:0002242	Abnormal intestine morphology	153241	CEP120	ORPHA:475
HP:0002242	Abnormal intestine morphology	95681	CEP41	ORPHA:220493
HP:0002242	Abnormal intestine morphology	95681	CEP41	ORPHA:475
HP:0002242	Abnormal intestine morphology	429	ASCL1	ORPHA:99803
HP:0002242	Abnormal intestine morphology	170302	ARX	ORPHA:452
HP:0002242	Abnormal intestine morphology	6023	RMRP	ORPHA:175
HP:0002242	Abnormal intestine morphology	6023	RMRP	OMIM:250250
HP:0002242	Abnormal intestine morphology	84992	PIGY	ORPHA:247262
HP:0002242	Abnormal intestine morphology	84720	PIGO	ORPHA:247262
HP:0002242	Abnormal intestine morphology	84720	PIGO	OMIM:614749
HP:0002242	Abnormal intestine morphology	93210	PGAP3	ORPHA:247262
HP:0002242	Abnormal intestine morphology	284098	PIGW	ORPHA:247262
HP:0002242	Abnormal intestine morphology	27315	PGAP2	ORPHA:247262
HP:0002242	Abnormal intestine morphology	27315	PGAP2	OMIM:614207
HP:0002242	Abnormal intestine morphology	9487	PIGL	ORPHA:247262
HP:0002242	Abnormal intestine morphology	51360	MBTPS2	ORPHA:2273
HP:0002242	Abnormal intestine morphology	51360	MBTPS2	OMIM:308205
HP:0002242	Abnormal intestine morphology	51360	MBTPS2	ORPHA:85284
HP:0002242	Abnormal intestine morphology	79140	CCDC28B	OMIM:209900
HP:0002242	Abnormal intestine morphology	79583	TMEM231	ORPHA:2318
HP:0002242	Abnormal intestine morphology	51524	TMEM138	ORPHA:2318
HP:0002242	Abnormal intestine morphology	23090	ZNF423	ORPHA:2318
HP:0002242	Abnormal intestine morphology	57545	CC2D2A	ORPHA:2318
HP:0002242	Abnormal intestine morphology	5077	PAX3	OMIM:148820
HP:0002242	Abnormal intestine morphology	5077	PAX3	ORPHA:894
HP:0002242	Abnormal intestine morphology	26040	SETBP1	ORPHA:798
HP:0002242	Abnormal intestine morphology	9851	KIAA0753	ORPHA:475
HP:0002242	Abnormal intestine morphology	5147	PDE6D	ORPHA:475
HP:0002242	Abnormal intestine morphology	79600	TCTN1	ORPHA:475
HP:0002242	Abnormal intestine morphology	79848	CSPP1	ORPHA:475
HP:0002242	Abnormal intestine morphology	65250	CPLANE1	ORPHA:475
HP:0002242	Abnormal intestine morphology	91147	TMEM67	ORPHA:475
HP:0002242	Abnormal intestine morphology	200894	ARL13B	ORPHA:475
HP:0002242	Abnormal intestine morphology	9731	CEP104	ORPHA:475
HP:0002242	Abnormal intestine morphology	219844	HYLS1	ORPHA:475
HP:0002242	Abnormal intestine morphology	23247	KATNIP	ORPHA:475
HP:0002242	Abnormal intestine morphology	219854	TMEM218	ORPHA:475
HP:0002242	Abnormal intestine morphology	9786	KIAA0586	ORPHA:475
HP:0002242	Abnormal intestine morphology	79867	TCTN2	ORPHA:475
HP:0002242	Abnormal intestine morphology	80776	B9D2	ORPHA:475
HP:0002242	Abnormal intestine morphology	10464	PIBF1	ORPHA:475
HP:0002242	Abnormal intestine morphology	80210	ARMC9	ORPHA:475
HP:0002242	Abnormal intestine morphology	23116	TOGARAM1	ORPHA:475
HP:0002242	Abnormal intestine morphology	25776	CBY1	ORPHA:475
HP:0002242	Abnormal intestine morphology	27077	B9D1	ORPHA:475
HP:0002242	Abnormal intestine morphology	403	ARL3	ORPHA:475
HP:0002242	Abnormal intestine morphology	1654	DDX3X	ORPHA:3338
HP:0002242	Abnormal intestine morphology	6591	SNAI2	ORPHA:2884
HP:0002242	Abnormal intestine morphology	6591	SNAI2	ORPHA:895
HP:0002242	Abnormal intestine morphology	7299	TYR	ORPHA:895
HP:0002242	Abnormal intestine morphology	4254	KITLG	ORPHA:895
HP:0002242	Abnormal intestine morphology	3897	L1CAM	OMIM:304100
HP:0002242	Abnormal intestine morphology	3897	L1CAM	ORPHA:1497
HP:0002242	Abnormal intestine morphology	4292	MLH1	OMIM:158320
HP:0002242	Abnormal intestine morphology	4436	MSH2	OMIM:158320
HP:0002242	Abnormal intestine morphology	197131	UBR1	OMIM:243800
HP:0002242	Abnormal intestine morphology	5310	PKD1	OMIM:173900
HP:0002242	Abnormal intestine morphology	5290	PIK3CA	OMIM:615108
HP:0002242	Abnormal intestine morphology	207	AKT1	OMIM:615109
HP:0002242	Abnormal intestine morphology	6804	STX1A	ORPHA:904
HP:0002242	Abnormal intestine morphology	7461	CLIP2	ORPHA:904
HP:0002242	Abnormal intestine morphology	84277	DNAJC30	ORPHA:904
HP:0002242	Abnormal intestine morphology	8468	FKBP6	ORPHA:904
HP:0002242	Abnormal intestine morphology	5982	RFC2	ORPHA:904
HP:0002242	Abnormal intestine morphology	2969	GTF2I	ORPHA:904
HP:0002242	Abnormal intestine morphology	3984	LIMK1	ORPHA:904
HP:0002242	Abnormal intestine morphology	9569	GTF2IRD1	ORPHA:904
HP:0002242	Abnormal intestine morphology	155382	VPS37D	ORPHA:904
HP:0002242	Abnormal intestine morphology	155368	METTL27	ORPHA:904
HP:0002242	Abnormal intestine morphology	114049	BUD23	ORPHA:904
HP:0002242	Abnormal intestine morphology	7458	EIF4H	ORPHA:904
HP:0002242	Abnormal intestine morphology	84163	GTF2IRD2	ORPHA:904
HP:0002242	Abnormal intestine morphology	26608	TBL2	ORPHA:904
HP:0002242	Abnormal intestine morphology	653361	NCF1	ORPHA:904
HP:0002242	Abnormal intestine morphology	135886	TMEM270	ORPHA:904
HP:0002242	Abnormal intestine morphology	9031	BAZ1B	ORPHA:904
HP:0002242	Abnormal intestine morphology	2006	ELN	ORPHA:90348
HP:0002242	Abnormal intestine morphology	10516	FBLN5	ORPHA:90348
HP:0002242	Abnormal intestine morphology	10516	FBLN5	ORPHA:90349
HP:0002242	Abnormal intestine morphology	5832	ALDH18A1	ORPHA:90348
HP:0002242	Abnormal intestine morphology	4052	LTBP1	ORPHA:90349
HP:0002242	Abnormal intestine morphology	2294	FOXF1	OMIM:265380
HP:0002242	Abnormal intestine morphology	2294	FOXF1	ORPHA:210122
HP:0002242	Abnormal intestine morphology	4638	MYLK	OMIM:249210
HP:0002242	Abnormal intestine morphology	4638	MYLK	ORPHA:2241
HP:0002242	Abnormal intestine morphology	2138	EYA1	OMIM:113650
HP:0002242	Abnormal intestine morphology	6495	SIX1	OMIM:113650
HP:0002242	Abnormal intestine morphology	4750	NEK1	OMIM:263520
HP:0002242	Abnormal intestine morphology	2132	EXT2	OMIM:616682
HP:0002242	Abnormal intestine morphology	72	ACTG2	OMIM:619431
HP:0002242	Abnormal intestine morphology	72	ACTG2	ORPHA:2241
HP:0002242	Abnormal intestine morphology	79827	CLMP	OMIM:615237
HP:0002242	Abnormal intestine morphology	79827	CLMP	ORPHA:2301
HP:0002242	Abnormal intestine morphology	23556	PIGN	ORPHA:2059
HP:0002242	Abnormal intestine morphology	5885	RAD21	OMIM:614701
HP:0002242	Abnormal intestine morphology	5885	RAD21	ORPHA:199
HP:0002242	Abnormal intestine morphology	3659	IRF1	OMIM:620668
HP:0002242	Abnormal intestine morphology	6091	ROBO1	OMIM:620305
HP:0002242	Abnormal intestine morphology	1131	CHRM3	ORPHA:2970
HP:0002242	Abnormal intestine morphology	4838	NODAL	OMIM:270100
HP:0002242	Abnormal intestine morphology	55209	SETD5	ORPHA:404440
HP:0002242	Abnormal intestine morphology	2627	GATA6	OMIM:600001
HP:0002242	Abnormal intestine morphology	2627	GATA6	ORPHA:2140
HP:0002242	Abnormal intestine morphology	2627	GATA6	ORPHA:2255
HP:0002242	Abnormal intestine morphology	1387	CREBBP	ORPHA:353281
HP:0002242	Abnormal intestine morphology	1387	CREBBP	ORPHA:353277
HP:0002242	Abnormal intestine morphology	80816	ASXL3	OMIM:615485
HP:0002242	Abnormal intestine morphology	89910	UBE3B	OMIM:244450
HP:0002242	Abnormal intestine morphology	8882	ZPR1	OMIM:619321
HP:0002242	Abnormal intestine morphology	341640	FREM2	OMIM:617666
HP:0002242	Abnormal intestine morphology	25790	CFAP45	OMIM:619608
HP:0002242	Abnormal intestine morphology	2033	EP300	ORPHA:353284
HP:0002242	Abnormal intestine morphology	2033	EP300	OMIM:613684
HP:0002242	Abnormal intestine morphology	5915	RARB	OMIM:615524
HP:0002242	Abnormal intestine morphology	51259	TMEM216	OMIM:603194
HP:0002242	Abnormal intestine morphology	55997	CFC1	OMIM:605376
HP:0002242	Abnormal intestine morphology	2263	FGFR2	ORPHA:93260
HP:0002242	Abnormal intestine morphology	2263	FGFR2	ORPHA:93259
HP:0002242	Abnormal intestine morphology	57492	ARID1B	OMIM:135900
HP:0002242	Abnormal intestine morphology	54880	BCOR	ORPHA:2712
HP:0002242	Abnormal intestine morphology	815	CAMK2A	OMIM:617798
HP:0002242	Abnormal intestine morphology	4853	NOTCH2	OMIM:102500
HP:0002242	Abnormal intestine morphology	4853	NOTCH2	ORPHA:955
HP:0002242	Abnormal intestine morphology	7994	KAT6A	ORPHA:457193
HP:0002242	Abnormal intestine morphology	7994	KAT6A	OMIM:616268
HP:0002242	Abnormal intestine morphology	1063	CENPF	OMIM:243605
HP:0002242	Abnormal intestine morphology	118856	MMP21	OMIM:616749
HP:0002242	Abnormal intestine morphology	1312	COMT	ORPHA:567
HP:0002242	Abnormal intestine morphology	221037	JMJD1C	ORPHA:567
HP:0002242	Abnormal intestine morphology	2812	GP1BB	ORPHA:567
HP:0002242	Abnormal intestine morphology	6239	RREB1	ORPHA:567
HP:0002242	Abnormal intestine morphology	6899	TBX1	ORPHA:567
HP:0002242	Abnormal intestine morphology	7290	HIRA	ORPHA:567
HP:0002242	Abnormal intestine morphology	9632	SEC24C	ORPHA:567
HP:0002242	Abnormal intestine morphology	7353	UFD1	ORPHA:567
HP:0002242	Abnormal intestine morphology	421	ARVCF	ORPHA:567
HP:0002242	Abnormal intestine morphology	8626	TP63	ORPHA:93930
HP:0002242	Abnormal intestine morphology	3670	ISL1	ORPHA:93930
HP:0002242	Abnormal intestine morphology	1717	DHCR7	OMIM:270400
HP:0002242	Abnormal intestine morphology	8091	HMGA2	ORPHA:94063
HP:0002242	Abnormal intestine morphology	23592	LEMD3	ORPHA:94063
HP:0002242	Abnormal intestine morphology	23414	ZFPM2	ORPHA:2140
HP:0002242	Abnormal intestine morphology	9361	LONP1	ORPHA:2140
HP:0002242	Abnormal intestine morphology	25	ABL1	OMIM:617602
HP:0002242	Abnormal intestine morphology	2316	FLNA	ORPHA:2301
HP:0002242	Abnormal intestine morphology	2316	FLNA	OMIM:300048
HP:0002242	Abnormal intestine morphology	4036	LRP2	ORPHA:2143
HP:0002242	Abnormal intestine morphology	4036	LRP2	OMIM:222448
HP:0002242	Abnormal intestine morphology	2065	ERBB3	OMIM:243180
HP:0002242	Abnormal intestine morphology	2313	FLI1	ORPHA:2308
HP:0002242	Abnormal intestine morphology	3192	HNRNPU	ORPHA:238769
HP:0002242	Abnormal intestine morphology	23476	BRD4	ORPHA:199
HP:0002242	Abnormal intestine morphology	9126	SMC3	ORPHA:199
HP:0002242	Abnormal intestine morphology	8243	SMC1A	ORPHA:199
HP:0002242	Abnormal intestine morphology	6878	TAF6	ORPHA:199
HP:0002242	Abnormal intestine morphology	25836	NIPBL	ORPHA:199
HP:0002242	Abnormal intestine morphology	55869	HDAC8	ORPHA:199
HP:0002242	Abnormal intestine morphology	4629	MYH11	OMIM:619350
HP:0002242	Abnormal intestine morphology	4629	MYH11	ORPHA:2241
HP:0002242	Abnormal intestine morphology	64840	PORCN	OMIM:305600
HP:0002242	Abnormal intestine morphology	79659	DYNC2H1	OMIM:613091
HP:0002242	Abnormal intestine morphology	57217	TTC7A	OMIM:243150
HP:0002242	Abnormal intestine morphology	57217	TTC7A	ORPHA:436252
HP:0002242	Abnormal intestine morphology	6608	SMO	OMIM:601707
HP:0002242	Abnormal intestine morphology	6608	SMO	ORPHA:1553
HP:0002242	Abnormal intestine morphology	10526	IPO8	OMIM:619472
HP:0002242	Abnormal intestine morphology	57167	SALL4	OMIM:147750
HP:0002242	Abnormal intestine morphology	222546	RFX6	OMIM:615710
HP:0002242	Abnormal intestine morphology	10056	FARSB	OMIM:613658
HP:0002242	Abnormal intestine morphology	10653	SPINT2	OMIM:270420
HP:0002242	Abnormal intestine morphology	113189	CHST14	OMIM:601776
HP:0002242	Abnormal intestine morphology	6558	SLC12A2	OMIM:619080
HP:0002242	Abnormal intestine morphology	1718	DHCR24	ORPHA:35107
HP:0002242	Abnormal intestine morphology	27031	NPHP3	OMIM:208540
HP:0002242	Abnormal intestine morphology	27031	NPHP3	ORPHA:3032
HP:0002242	Abnormal intestine morphology	28952	CCDC22	OMIM:300963
HP:0002242	Abnormal intestine morphology	28952	CCDC22	ORPHA:7
HP:0002242	Abnormal intestine morphology	112752	IFT43	OMIM:617866
HP:0002242	Abnormal intestine morphology	9772	TMEM94	OMIM:618316
HP:0002242	Abnormal intestine morphology	25802	LMOD1	ORPHA:2241
HP:0002242	Abnormal intestine morphology	139285	AMER1	OMIM:300373
HP:0002242	Abnormal intestine morphology	745	MYRF	OMIM:618280
HP:0002242	Abnormal intestine morphology	5297	PI4KA	ORPHA:436252
HP:0002242	Abnormal intestine morphology	4087	SMAD2	OMIM:619657
HP:0002242	Abnormal intestine morphology	59	ACTA2	OMIM:613834
HP:0002242	Abnormal intestine morphology	79087	ALG12	ORPHA:79324
HP:0002242	Abnormal intestine morphology	25981	DNAH1	ORPHA:244
HP:0002242	Abnormal intestine morphology	115948	ODAD3	ORPHA:244
HP:0002242	Abnormal intestine morphology	54768	HYDIN	ORPHA:244
HP:0002242	Abnormal intestine morphology	352909	DNAAF3	ORPHA:244
HP:0002242	Abnormal intestine morphology	27148	STK36	ORPHA:244
HP:0002242	Abnormal intestine morphology	51314	NME8	ORPHA:244
HP:0002242	Abnormal intestine morphology	92749	DRC1	ORPHA:244
HP:0002242	Abnormal intestine morphology	54970	TTC12	ORPHA:244
HP:0002242	Abnormal intestine morphology	152110	NEK10	ORPHA:244
HP:0002242	Abnormal intestine morphology	8481	OFD1	ORPHA:244
HP:0002242	Abnormal intestine morphology	2302	FOXJ1	ORPHA:244
HP:0002242	Abnormal intestine morphology	221421	RSPH9	ORPHA:244
HP:0002242	Abnormal intestine morphology	85478	CCDC65	ORPHA:244
HP:0002242	Abnormal intestine morphology	55036	CCDC40	ORPHA:244
HP:0002242	Abnormal intestine morphology	51364	ZMYND10	ORPHA:244
HP:0002242	Abnormal intestine morphology	64446	DNAI2	ORPHA:244
HP:0002242	Abnormal intestine morphology	8382	NME5	ORPHA:244
HP:0002242	Abnormal intestine morphology	6674	SPAG1	ORPHA:244
HP:0002242	Abnormal intestine morphology	83544	DNAL1	ORPHA:244
HP:0002242	Abnormal intestine morphology	89765	RSPH1	ORPHA:244
HP:0002242	Abnormal intestine morphology	83538	ODAD4	ORPHA:244
HP:0002242	Abnormal intestine morphology	200373	CFAP221	ORPHA:244
HP:0002242	Abnormal intestine morphology	374407	DNAJB13	ORPHA:244
HP:0002242	Abnormal intestine morphology	55172	DNAAF2	ORPHA:244
HP:0002242	Abnormal intestine morphology	161582	DNAAF4	ORPHA:244
HP:0002242	Abnormal intestine morphology	2622	GAS8	ORPHA:244
HP:0002242	Abnormal intestine morphology	23639	DNAAF11	ORPHA:244
HP:0002242	Abnormal intestine morphology	27019	DNAI1	ORPHA:244
HP:0002242	Abnormal intestine morphology	345895	RSPH4A	ORPHA:244
HP:0002242	Abnormal intestine morphology	54919	DNAAF5	ORPHA:244
HP:0002242	Abnormal intestine morphology	6103	RPGR	ORPHA:244
HP:0002242	Abnormal intestine morphology	85452	CFAP74	ORPHA:244
HP:0002242	Abnormal intestine morphology	93233	ODAD1	ORPHA:244
HP:0002242	Abnormal intestine morphology	55130	ODAD2	ORPHA:244
HP:0002242	Abnormal intestine morphology	1767	DNAH5	ORPHA:244
HP:0002242	Abnormal intestine morphology	83861	RSPH3	ORPHA:244
HP:0002242	Abnormal intestine morphology	345643	MCIDAS	ORPHA:244
HP:0002242	Abnormal intestine morphology	56683	CFAP298	ORPHA:244
HP:0002242	Abnormal intestine morphology	79925	SPEF2	ORPHA:244
HP:0002242	Abnormal intestine morphology	10309	CCNO	ORPHA:244
HP:0002242	Abnormal intestine morphology	115399	LRRC56	ORPHA:244
HP:0002242	Abnormal intestine morphology	139212	DNAAF6	ORPHA:244
HP:0002242	Abnormal intestine morphology	123872	DNAAF1	ORPHA:244
HP:0002242	Abnormal intestine morphology	85016	CFAP300	ORPHA:244
HP:0002242	Abnormal intestine morphology	339829	CCDC39	ORPHA:244
HP:0002242	Abnormal intestine morphology	8701	DNAH11	ORPHA:244
HP:0002242	Abnormal intestine morphology	1770	DNAH9	ORPHA:244
HP:0002242	Abnormal intestine morphology	246176	GAS2L2	ORPHA:244
HP:0002242	Abnormal intestine morphology	9897	WASHC5	ORPHA:7
HP:0002242	Abnormal intestine morphology	57020	VPS35L	ORPHA:7
HP:0002242	Abnormal intestine morphology	56896	DPYSL5	ORPHA:7
HP:0002242	Abnormal intestine morphology	171023	ASXL1	OMIM:605039
HP:0002242	Abnormal intestine morphology	54903	MKS1	OMIM:249000
HP:0002242	Abnormal intestine morphology	2719	GPC3	OMIM:312870
HP:0002242	Abnormal intestine morphology	2239	GPC4	OMIM:312870
HP:0002242	Abnormal intestine morphology	2201	FBN2	ORPHA:115
HP:0002242	Abnormal intestine morphology	8085	KMT2D	OMIM:147920
HP:0002242	Abnormal intestine morphology	7403	KDM6A	OMIM:147920
HP:0002242	Abnormal intestine morphology	657	BMPR1A	OMIM:174900
HP:0002242	Abnormal intestine morphology	657	BMPR1A	ORPHA:157794
HP:0002242	Abnormal intestine morphology	657	BMPR1A	ORPHA:79076
HP:0002242	Abnormal intestine morphology	4089	SMAD4	OMIM:174900
HP:0002242	Abnormal intestine morphology	26585	GREM1	ORPHA:157794
HP:0002242	Abnormal intestine morphology	5156	PDGFRA	OMIM:175510
HP:0002242	Abnormal intestine morphology	30008	EFEMP2	OMIM:614437
HP:0002242	Abnormal intestine morphology	6794	STK11	OMIM:175200
HP:0002242	Abnormal intestine morphology	9203	ZMYM3	OMIM:301111
HP:0002242	Abnormal intestine morphology	129563	DIS3L2	OMIM:267000
HP:0002242	Abnormal intestine morphology	7010	TEK	ORPHA:1059
HP:0002242	Abnormal intestine morphology	738	VPS51	OMIM:618606
HP:0002242	Abnormal intestine morphology	55690	PACS1	OMIM:615009
HP:0002242	Abnormal intestine morphology	7407	VARS1	OMIM:617802
HP:0002242	Abnormal intestine morphology	546	ATRX	ORPHA:847
HP:0002242	Abnormal intestine morphology	2202	EFEMP1	OMIM:620780
HP:0002242	Abnormal intestine morphology	9051	PSTPIP1	OMIM:604416
HP:0002242	Abnormal intestine morphology	355	FAS	ORPHA:3261
HP:0002242	Abnormal intestine morphology	356	FASLG	ORPHA:3261
HP:0002242	Abnormal intestine morphology	843	CASP10	ORPHA:3261
HP:0002242	Abnormal intestine morphology	51750	RTEL1	OMIM:615190
HP:0002242	Abnormal intestine morphology	5422	POLA1	OMIM:301220
HP:0002242	Abnormal intestine morphology	4261	CIITA	OMIM:209920
HP:0002242	Abnormal intestine morphology	6499	SKIC2	OMIM:614602
HP:0002242	Abnormal intestine morphology	6499	SKIC2	ORPHA:84064
HP:0002242	Abnormal intestine morphology	5551	PRF1	ORPHA:540
HP:0002242	Abnormal intestine morphology	8676	STX11	ORPHA:540
HP:0002242	Abnormal intestine morphology	201294	UNC13D	ORPHA:540
HP:0002242	Abnormal intestine morphology	6813	STXBP2	ORPHA:540
HP:0002242	Abnormal intestine morphology	6813	STXBP2	OMIM:613101
HP:0002242	Abnormal intestine morphology	8915	BCL10	OMIM:616098
HP:0002242	Abnormal intestine morphology	23149	FCHO1	OMIM:619164
HP:0002242	Abnormal intestine morphology	60468	BACH2	OMIM:618394
HP:0002242	Abnormal intestine morphology	5699	PSMB10	OMIM:620807
HP:0002242	Abnormal intestine morphology	146206	CARMIL2	OMIM:618131
HP:0002242	Abnormal intestine morphology	9652	SKIC3	ORPHA:84064
HP:0002242	Abnormal intestine morphology	7535	ZAP70	OMIM:617006
HP:0002242	Abnormal intestine morphology	7535	ZAP70	ORPHA:911
HP:0002242	Abnormal intestine morphology	4689	NCF4	OMIM:613960
HP:0002242	Abnormal intestine morphology	3587	IL10RA	OMIM:613148
HP:0002242	Abnormal intestine morphology	5294	PIK3CG	OMIM:619802
HP:0002242	Abnormal intestine morphology	81858	SHARPIN	OMIM:620795
HP:0002242	Abnormal intestine morphology	338328	GPIHBP1	OMIM:615947
HP:0002242	Abnormal intestine morphology	4067	LYN	OMIM:620376
HP:0002242	Abnormal intestine morphology	324	APC	ORPHA:261584
HP:0002242	Abnormal intestine morphology	80169	CTC1	OMIM:612199
HP:0002242	Abnormal intestine morphology	64132	XYLT2	OMIM:605822
HP:0002242	Abnormal intestine morphology	6850	SYK	OMIM:619381
HP:0002242	Abnormal intestine morphology	4221	MEN1	ORPHA:652
HP:0002242	Abnormal intestine morphology	1027	CDKN1B	ORPHA:652
HP:0002242	Abnormal intestine morphology	1026	CDKN1A	ORPHA:652
HP:0002242	Abnormal intestine morphology	1030	CDKN2B	ORPHA:652
HP:0002242	Abnormal intestine morphology	1031	CDKN2C	ORPHA:652
HP:0002242	Abnormal intestine morphology	5321	PLA2G4A	OMIM:618372
HP:0002242	Abnormal intestine morphology	5340	PLG	OMIM:217090
HP:0002242	Abnormal intestine morphology	5340	PLG	ORPHA:722
HP:0002242	Abnormal intestine morphology	91574	MTRFR	ORPHA:254930
HP:0002242	Abnormal intestine morphology	91574	MTRFR	OMIM:613559
HP:0002242	Abnormal intestine morphology	2184	FAH	OMIM:276700
HP:0002242	Abnormal intestine morphology	9780	PIEZO1	OMIM:616843
HP:0002242	Abnormal intestine morphology	79633	FAT4	OMIM:616006
HP:0002242	Abnormal intestine morphology	55072	RNF31	OMIM:620632
HP:0002242	Abnormal intestine morphology	147372	CCBE1	OMIM:235510
HP:0002242	Abnormal intestine morphology	1080	CFTR	OMIM:219700
HP:0002242	Abnormal intestine morphology	2212	FCGR2A	OMIM:219700
HP:0002242	Abnormal intestine morphology	7040	TGFB1	OMIM:219700
HP:0002242	Abnormal intestine morphology	6535	SLC6A8	OMIM:300352
HP:0002242	Abnormal intestine morphology	6535	SLC6A8	ORPHA:52503
HP:0002242	Abnormal intestine morphology	2130	EWSR1	ORPHA:83469
HP:0002242	Abnormal intestine morphology	7490	WT1	ORPHA:83469
HP:0002242	Abnormal intestine morphology	284119	CAVIN1	OMIM:613327
HP:0002242	Abnormal intestine morphology	5498	PPOX	ORPHA:79473
HP:0002242	Abnormal intestine morphology	3145	HMBS	ORPHA:79276
HP:0002242	Abnormal intestine morphology	26153	KIF26A	OMIM:620156
HP:0002242	Abnormal intestine morphology	23314	SATB2	ORPHA:576283
HP:0002242	Abnormal intestine morphology	51322	WAC	ORPHA:284169
HP:0002242	Abnormal intestine morphology	92482	BBIP1	ORPHA:110
HP:0002242	Abnormal intestine morphology	80184	CEP290	ORPHA:110
HP:0002242	Abnormal intestine morphology	11020	IFT27	ORPHA:110
HP:0002242	Abnormal intestine morphology	582	BBS1	ORPHA:110
HP:0002242	Abnormal intestine morphology	49855	SCAPER	ORPHA:110
HP:0002242	Abnormal intestine morphology	4867	NPHP1	ORPHA:110
HP:0002242	Abnormal intestine morphology	51057	WDPCP	ORPHA:110
HP:0002242	Abnormal intestine morphology	132320	SCLT1	ORPHA:110
HP:0002242	Abnormal intestine morphology	27241	BBS9	ORPHA:110
HP:0002242	Abnormal intestine morphology	84984	CEP19	ORPHA:110
HP:0002242	Abnormal intestine morphology	22954	TRIM32	ORPHA:110
HP:0002242	Abnormal intestine morphology	79738	BBS10	ORPHA:110
HP:0002242	Abnormal intestine morphology	123016	TTC8	ORPHA:110
HP:0002242	Abnormal intestine morphology	26160	IFT172	ORPHA:110
HP:0002242	Abnormal intestine morphology	583	BBS2	ORPHA:110
HP:0002242	Abnormal intestine morphology	585	BBS4	ORPHA:110
HP:0002242	Abnormal intestine morphology	8195	MKKS	ORPHA:110
HP:0002242	Abnormal intestine morphology	54585	LZTFL1	ORPHA:110
HP:0002242	Abnormal intestine morphology	55212	BBS7	ORPHA:110
HP:0002242	Abnormal intestine morphology	166379	BBS12	ORPHA:110
HP:0002242	Abnormal intestine morphology	10806	SDCCAG8	ORPHA:110
HP:0002242	Abnormal intestine morphology	157657	CFAP418	ORPHA:110
HP:0002242	Abnormal intestine morphology	84100	ARL6	ORPHA:110
HP:0002242	Abnormal intestine morphology	129880	BBS5	ORPHA:110
HP:0002242	Abnormal intestine morphology	80173	IFT74	ORPHA:110
HP:0002242	Abnormal intestine morphology	51256	TBC1D7	OMIM:248000
HP:0002242	Abnormal intestine morphology	2859	GPR35	ORPHA:171
HP:0002242	Abnormal intestine morphology	10507	SEMA4D	ORPHA:171
HP:0002242	Abnormal intestine morphology	4485	MST1	ORPHA:171
HP:0002242	Abnormal intestine morphology	6925	TCF4	ORPHA:171
HP:0002242	Abnormal intestine morphology	326	AIRE	OMIM:240300
HP:0002242	Abnormal intestine morphology	8651	SOCS1	OMIM:619375
HP:0002242	Abnormal intestine morphology	10625	IVNS1ABP	OMIM:618969
HP:0002242	Abnormal intestine morphology	6777	STAT5B	OMIM:618985
HP:0002242	Abnormal intestine morphology	3117	HLA-DQA1	OMIM:212750
HP:0002242	Abnormal intestine morphology	3119	HLA-DQB1	OMIM:212750
HP:0002242	Abnormal intestine morphology	10092	ARPC5	OMIM:620565
HP:0002242	Abnormal intestine morphology	3514	IGKC	ORPHA:183675
HP:0002242	Abnormal intestine morphology	3501	IGHG2	ORPHA:183675
HP:0002242	Abnormal intestine morphology	29110	TBK1	OMIM:620880
HP:0002242	Abnormal intestine morphology	3594	IL12RB1	ORPHA:186
HP:0002242	Abnormal intestine morphology	23534	TNPO3	ORPHA:186
HP:0002242	Abnormal intestine morphology	3592	IL12A	ORPHA:186
HP:0002242	Abnormal intestine morphology	6689	SPIB	ORPHA:186
HP:0002242	Abnormal intestine morphology	5450	POU2AF1	ORPHA:186
HP:0002242	Abnormal intestine morphology	9966	TNFSF15	ORPHA:186
HP:0002242	Abnormal intestine morphology	79258	MMEL1	ORPHA:186
HP:0002242	Abnormal intestine morphology	3663	IRF5	ORPHA:186
HP:0002242	Abnormal intestine morphology	10847	SRCAP	OMIM:136140
HP:0002242	Abnormal intestine morphology	10847	SRCAP	ORPHA:2044
HP:0002242	Abnormal intestine morphology	29998	BICRA	OMIM:619325
HP:0002242	Abnormal intestine morphology	4953	ODC1	ORPHA:544488
HP:0002242	Abnormal intestine morphology	51085	MLXIPL	OMIM:194050
HP:0002242	Abnormal intestine morphology	4763	NF1	OMIM:162200
HP:0002242	Abnormal intestine morphology	716	C1S	OMIM:617174
HP:0002242	Abnormal intestine morphology	8930	MBD4	OMIM:619975
HP:0002242	Abnormal intestine morphology	4092	SMAD7	OMIM:612229
HP:0002242	Abnormal intestine morphology	2304	FOXE1	ORPHA:319487
HP:0002242	Abnormal intestine morphology	3026	HABP2	ORPHA:319487
HP:0002242	Abnormal intestine morphology	9562	MINPP1	ORPHA:319487
HP:0002242	Abnormal intestine morphology	9839	ZEB2	OMIM:235730
HP:0002242	Abnormal intestine morphology	1736	DKC1	OMIM:301108
HP:0002242	Abnormal intestine morphology	26873	OPLAH	OMIM:260005
HP:0002242	Abnormal intestine morphology	55505	NOP10	OMIM:620425
HP:0002242	Abnormal intestine morphology	5336	PLCG2	OMIM:614878
HP:0002242	Abnormal intestine morphology	1991	ELANE	ORPHA:2686
HP:0002242	Abnormal intestine morphology	2984	GUCY2C	OMIM:614665
HP:0002242	Abnormal intestine morphology	10269	ZMPSTE24	ORPHA:1662
HP:0002242	Abnormal intestine morphology	3190	HNRNPK	ORPHA:453504
HP:0002242	Abnormal intestine morphology	3190	HNRNPK	ORPHA:352665
HP:0002242	Abnormal intestine morphology	4558	MT-TF	ORPHA:550
HP:0002242	Abnormal intestine morphology	4572	MT-TQ	ORPHA:550
HP:0002242	Abnormal intestine morphology	4512	MT-CO1	ORPHA:550
HP:0002242	Abnormal intestine morphology	4513	MT-CO2	ORPHA:550
HP:0002242	Abnormal intestine morphology	4514	MT-CO3	ORPHA:550
HP:0002242	Abnormal intestine morphology	4578	MT-TW	ORPHA:550
HP:0002242	Abnormal intestine morphology	4540	MT-ND5	ORPHA:550
HP:0002242	Abnormal intestine morphology	4541	MT-ND6	ORPHA:550
HP:0002242	Abnormal intestine morphology	4535	MT-ND1	ORPHA:550
HP:0002242	Abnormal intestine morphology	4538	MT-ND4	ORPHA:550
HP:0002242	Abnormal intestine morphology	4567	MT-TL1	ORPHA:550
HP:0002242	Abnormal intestine morphology	4574	MT-TS1	ORPHA:550
HP:0002242	Abnormal intestine morphology	4575	MT-TS2	ORPHA:550
HP:0002242	Abnormal intestine morphology	4564	MT-TH	ORPHA:550
HP:0002242	Abnormal intestine morphology	56652	TWNK	OMIM:607459
HP:0002242	Abnormal intestine morphology	56652	TWNK	ORPHA:70595
HP:0002242	Abnormal intestine morphology	5428	POLG	OMIM:607459
HP:0002242	Abnormal intestine morphology	5428	POLG	OMIM:613662
HP:0002242	Abnormal intestine morphology	5428	POLG	OMIM:603041
HP:0002242	Abnormal intestine morphology	5428	POLG	ORPHA:70595
HP:0002242	Abnormal intestine morphology	151648	SGO1	OMIM:616201
HP:0002242	Abnormal intestine morphology	3423	IDS	OMIM:309900
HP:0002242	Abnormal intestine morphology	3980	LIG3	OMIM:619780
HP:0002242	Abnormal intestine morphology	672	BRCA1	ORPHA:1333
HP:0002242	Abnormal intestine morphology	285282	RABL3	ORPHA:1333
HP:0002242	Abnormal intestine morphology	7157	TP53	ORPHA:1333
HP:0002242	Abnormal intestine morphology	675	BRCA2	ORPHA:1333
HP:0002242	Abnormal intestine morphology	3845	KRAS	ORPHA:1333
HP:0002242	Abnormal intestine morphology	1029	CDKN2A	ORPHA:1333
HP:0002242	Abnormal intestine morphology	79728	PALB2	ORPHA:1333
HP:0002242	Abnormal intestine morphology	23022	PALLD	ORPHA:1333
HP:0002242	Abnormal intestine morphology	1890	TYMP	OMIM:603041
HP:0002242	Abnormal intestine morphology	10483	SEC23B	ORPHA:201
HP:0002242	Abnormal intestine morphology	205717	USF3	ORPHA:201
HP:0002242	Abnormal intestine morphology	100144748	KLLN	ORPHA:201
HP:0002242	Abnormal intestine morphology	7020	TFAP2A	OMIM:113620
HP:0002242	Abnormal intestine morphology	2317	FLNB	ORPHA:1190
HP:0002242	Abnormal intestine morphology	1024	CDK8	OMIM:618748
HP:0002242	Abnormal intestine morphology	29940	DSE	ORPHA:2953
HP:0002242	Abnormal intestine morphology	23522	KAT6B	OMIM:606170
HP:0002242	Abnormal intestine morphology	54361	WNT4	ORPHA:139466
HP:0002242	Abnormal intestine morphology	7468	NSD2	OMIM:194190
HP:0002242	Abnormal intestine morphology	10815	CPLX1	OMIM:194190
HP:0002242	Abnormal intestine morphology	1487	CTBP1	OMIM:194190
HP:0002242	Abnormal intestine morphology	53834	FGFRL1	OMIM:194190
HP:0002242	Abnormal intestine morphology	3954	LETM1	OMIM:194190
HP:0002242	Abnormal intestine morphology	1723	DHODH	OMIM:263750
HP:0002242	Abnormal intestine morphology	1499	CTNNB1	ORPHA:873
HP:0002242	Abnormal intestine morphology	6390	SDHB	ORPHA:97286
HP:0002242	Abnormal intestine morphology	6390	SDHB	ORPHA:44890
HP:0002242	Abnormal intestine morphology	6390	SDHB	OMIM:606764
HP:0002242	Abnormal intestine morphology	6391	SDHC	ORPHA:97286
HP:0002242	Abnormal intestine morphology	6391	SDHC	ORPHA:44890
HP:0002242	Abnormal intestine morphology	6391	SDHC	OMIM:606764
HP:0002242	Abnormal intestine morphology	6392	SDHD	ORPHA:97286
HP:0002242	Abnormal intestine morphology	811	CALR	ORPHA:131
HP:0002242	Abnormal intestine morphology	3717	JAK2	ORPHA:131
HP:0002242	Abnormal intestine morphology	2153	F5	ORPHA:131
HP:0002242	Abnormal intestine morphology	6389	SDHA	ORPHA:44890
HP:0002242	Abnormal intestine morphology	3815	KIT	ORPHA:44890
HP:0002242	Abnormal intestine morphology	3815	KIT	OMIM:606764
HP:0002242	Abnormal intestine morphology	1493	CTLA4	ORPHA:900
HP:0002242	Abnormal intestine morphology	26191	PTPN22	ORPHA:900
HP:0002242	Abnormal intestine morphology	3115	HLA-DPB1	ORPHA:900
HP:0002242	Abnormal intestine morphology	5657	PRTN3	ORPHA:900
HP:0002242	Abnormal intestine morphology	3113	HLA-DPA1	ORPHA:900
HP:0002242	Abnormal intestine morphology	4598	MVK	ORPHA:343
HP:0002242	Abnormal intestine morphology	2131	EXT1	ORPHA:321
HP:0002242	Abnormal intestine morphology	4210	MEFV	ORPHA:342
HP:0002242	Abnormal intestine morphology	4609	MYC	ORPHA:543
HP:0002242	Abnormal intestine morphology	215	ABCD1	ORPHA:388
HP:0002242	Abnormal intestine morphology	2668	GDNF	ORPHA:388
HP:0002242	Abnormal intestine morphology	1889	ECE1	ORPHA:388
HP:0002242	Abnormal intestine morphology	6720	SREBF1	ORPHA:388
HP:0002242	Abnormal intestine morphology	223117	SEMA3D	ORPHA:388
HP:0002242	Abnormal intestine morphology	538	ATP7A	ORPHA:388
HP:0002242	Abnormal intestine morphology	10512	SEMA3C	ORPHA:388
HP:0002242	Abnormal intestine morphology	2064	ERBB2	ORPHA:388
HP:0002242	Abnormal intestine morphology	4902	NRTN	ORPHA:388
HP:0002242	Abnormal intestine morphology	2068	ERCC2	OMIM:601675
HP:0002242	Abnormal intestine morphology	3718	JAK3	OMIM:600802
HP:0002242	Abnormal intestine morphology	64127	NOD2	OMIM:266600
HP:0002242	Abnormal intestine morphology	3569	IL6	OMIM:266600
HP:0002242	Abnormal intestine morphology	6905	TBCE	ORPHA:2323
HP:0002242	Abnormal intestine morphology	7132	TNFRSF1A	ORPHA:32960
HP:0002242	Abnormal intestine morphology	5317	PKP1	ORPHA:158668
HP:0002242	Abnormal intestine morphology	1289	COL5A1	OMIM:130000
HP:0002242	Abnormal intestine morphology	81839	VANGL1	OMIM:600145
HP:0002242	Abnormal intestine morphology	3507	IGHM	OMIM:601495
HP:0002242	Abnormal intestine morphology	3689	ITGB2	OMIM:116920
HP:0002242	Abnormal intestine morphology	1536	CYBB	OMIM:306400
HP:0002242	Abnormal intestine morphology	1535	CYBA	OMIM:233690
HP:0002242	Abnormal intestine morphology	5880	RAC2	OMIM:608203
HP:0002242	Abnormal intestine morphology	710	SERPING1	ORPHA:100050
HP:0002242	Abnormal intestine morphology	710	SERPING1	OMIM:106100
HP:0002242	Abnormal intestine morphology	2161	F12	OMIM:610618
HP:0002242	Abnormal intestine morphology	4659	PPP1R12A	OMIM:618820
HP:0002242	Abnormal intestine morphology	407975	MIR17HG	ORPHA:391646
HP:0002242	Abnormal intestine morphology	8604	SLC25A12	OMIM:612949
HP:0002242	Abnormal intestine morphology	55605	KIF21A	ORPHA:994
HP:0002242	Abnormal intestine morphology	4927	NUP88	ORPHA:994
HP:0002242	Abnormal intestine morphology	7846	TUBA1A	ORPHA:994
HP:0002242	Abnormal intestine morphology	4654	MYOD1	ORPHA:994
HP:0002242	Abnormal intestine morphology	54551	MAGEL2	ORPHA:994
HP:0002242	Abnormal intestine morphology	4593	MUSK	ORPHA:994
HP:0002242	Abnormal intestine morphology	5913	RAPSN	ORPHA:994
HP:0002242	Abnormal intestine morphology	6572	SLC18A3	ORPHA:994
HP:0002242	Abnormal intestine morphology	285489	DOK7	ORPHA:994
HP:0002242	Abnormal intestine morphology	2475	MTOR	ORPHA:457485
HP:0002242	Abnormal intestine morphology	83550	GPR101	ORPHA:963
HP:0002242	Abnormal intestine morphology	9049	AIP	ORPHA:963
HP:0002242	Abnormal intestine morphology	581	BAX	OMIM:114500
HP:0002242	Abnormal intestine morphology	25788	RAD54B	OMIM:114500
HP:0002242	Abnormal intestine morphology	5795	PTPRJ	OMIM:114500
HP:0002242	Abnormal intestine morphology	5157	PDGFRL	OMIM:114500
HP:0002242	Abnormal intestine morphology	1630	DCC	OMIM:114500
HP:0002242	Abnormal intestine morphology	673	BRAF	OMIM:114500
HP:0002242	Abnormal intestine morphology	10395	DLC1	OMIM:114500
HP:0002242	Abnormal intestine morphology	4163	MCC	OMIM:114500
HP:0002242	Abnormal intestine morphology	2261	FGFR3	OMIM:114500
HP:0002242	Abnormal intestine morphology	201163	FLCN	OMIM:114500
HP:0002242	Abnormal intestine morphology	595	CCND1	OMIM:114500
HP:0002242	Abnormal intestine morphology	7097	TLR2	OMIM:114500
HP:0002242	Abnormal intestine morphology	6714	SRC	OMIM:114500
HP:0002242	Abnormal intestine morphology	27030	MLH3	OMIM:114500
HP:0002242	Abnormal intestine morphology	27030	MLH3	OMIM:614385
HP:0002242	Abnormal intestine morphology	5320	PLA2G2A	OMIM:114500
HP:0002242	Abnormal intestine morphology	6790	AURKA	OMIM:114500
HP:0002242	Abnormal intestine morphology	4893	NRAS	OMIM:114500
HP:0002242	Abnormal intestine morphology	5782	PTPN12	OMIM:114500
HP:0002242	Abnormal intestine morphology	81704	DOCK8	ORPHA:217390
HP:0002242	Abnormal intestine morphology	3655	ITGA6	ORPHA:79403
HP:0002242	Abnormal intestine morphology	3691	ITGB4	ORPHA:79403
HP:0002242	Abnormal intestine morphology	25942	SIN3A	ORPHA:94065
HP:0002242	Abnormal intestine morphology	374879	ZNF699	OMIM:619488
HP:0002242	Abnormal intestine morphology	6651	SON	OMIM:617140
HP:0002242	Abnormal intestine morphology	11005	SPINK5	OMIM:256500
HP:0002242	Abnormal intestine morphology	29925	GMPPB	OMIM:615351
HP:0002242	Abnormal intestine morphology	6809	STX3	ORPHA:2290
HP:0002242	Abnormal intestine morphology	5122	PCSK1	OMIM:600955
HP:0002242	Abnormal intestine morphology	10043	TOM1	OMIM:619510
HP:0002242	Abnormal intestine morphology	7482	WNT2B	OMIM:618168
HP:0002242	Abnormal intestine morphology	50619	DEF6	OMIM:619573
HP:0002242	Abnormal intestine morphology	79796	ALG9	OMIM:608776
HP:0002242	Abnormal intestine morphology	79796	ALG9	ORPHA:79328
HP:0002242	Abnormal intestine morphology	10195	ALG3	OMIM:601110
HP:0002242	Abnormal intestine morphology	58484	NLRC4	OMIM:616050
HP:0002242	Abnormal intestine morphology	3559	IL2RA	OMIM:606367
HP:0002242	Abnormal intestine morphology	5373	PMM2	OMIM:212065
HP:0002242	Abnormal intestine morphology	5889	RAD51C	OMIM:613390
HP:0002242	Abnormal intestine morphology	26123	TCTN3	ORPHA:2753
HP:0002242	Abnormal intestine morphology	55593	OTUD5	OMIM:301056
HP:0002242	Abnormal intestine morphology	7276	TTR	ORPHA:85451
HP:0002242	Abnormal intestine morphology	4072	EPCAM	ORPHA:92050
HP:0002242	Abnormal intestine morphology	105371045	PERCC1	ORPHA:92050
HP:0002242	Abnormal intestine morphology	3938	LCT	OMIM:223000
HP:0002242	Abnormal intestine morphology	4175	MCM6	OMIM:223100
HP:0002242	Abnormal intestine morphology	50484	RRM2B	ORPHA:298
HP:0002242	Abnormal intestine morphology	4281	MID1	OMIM:300000
HP:0002242	Abnormal intestine morphology	715	C1R	OMIM:130080
HP:0002242	Abnormal intestine morphology	567	B2M	ORPHA:314652
HP:0002242	Abnormal intestine morphology	84433	CARD11	OMIM:617638
HP:0002242	Abnormal intestine morphology	3716	JAK1	OMIM:618999
HP:0002242	Abnormal intestine morphology	7128	TNFAIP3	OMIM:616744
HP:0002242	Abnormal intestine morphology	220296	HEPACAM	ORPHA:210548
HP:0002242	Abnormal intestine morphology	139818	DOCK11	OMIM:301109
HP:0002242	Abnormal intestine morphology	5970	RELA	OMIM:618287
HP:0002242	Abnormal intestine morphology	6868	ADAM17	OMIM:614328
HP:0002242	Abnormal intestine morphology	6730	SRP68	OMIM:620534
HP:0002242	Abnormal intestine morphology	8547	FCN3	OMIM:613860
HP:0002242	Abnormal intestine morphology	2271	FH	OMIM:606812
HP:0002242	Abnormal intestine morphology	37	ACADVL	OMIM:201475
HP:0002242	Abnormal intestine morphology	3588	IL10RB	OMIM:612567
HP:0002242	Abnormal intestine morphology	55898	UNC45A	OMIM:619377
HP:0002242	Abnormal intestine morphology	51128	SAR1B	OMIM:246700
HP:0002242	Abnormal intestine morphology	6138	RPL15	ORPHA:124
HP:0002242	Abnormal intestine morphology	6165	RPL35A	ORPHA:124
HP:0002242	Abnormal intestine morphology	6132	RPL8	ORPHA:124
HP:0002242	Abnormal intestine morphology	6223	RPS19	ORPHA:124
HP:0002242	Abnormal intestine morphology	6232	RPS27	ORPHA:124
HP:0002242	Abnormal intestine morphology	55027	HEATR3	ORPHA:124
HP:0002242	Abnormal intestine morphology	6160	RPL31	ORPHA:124
HP:0002242	Abnormal intestine morphology	6201	RPS7	ORPHA:124
HP:0002242	Abnormal intestine morphology	6155	RPL27	ORPHA:124
HP:0002242	Abnormal intestine morphology	6234	RPS28	ORPHA:124
HP:0002242	Abnormal intestine morphology	6135	RPL11	ORPHA:124
HP:0002242	Abnormal intestine morphology	6229	RPS24	ORPHA:124
HP:0002242	Abnormal intestine morphology	6125	RPL5	ORPHA:124
HP:0002242	Abnormal intestine morphology	6204	RPS10	ORPHA:124
HP:0002242	Abnormal intestine morphology	2623	GATA1	ORPHA:124
HP:0002242	Abnormal intestine morphology	6133	RPL9	ORPHA:124
HP:0002242	Abnormal intestine morphology	6231	RPS26	ORPHA:124
HP:0002242	Abnormal intestine morphology	11224	RPL35	ORPHA:124
HP:0002242	Abnormal intestine morphology	6218	RPS17	ORPHA:124
HP:0002242	Abnormal intestine morphology	6154	RPL26	ORPHA:124
HP:0002242	Abnormal intestine morphology	6210	RPS15A	ORPHA:124
HP:0002242	Abnormal intestine morphology	90121	TSR2	ORPHA:124
HP:0002242	Abnormal intestine morphology	6141	RPL18	ORPHA:124
HP:0002242	Abnormal intestine morphology	6235	RPS29	ORPHA:124
HP:0002242	Abnormal intestine morphology	51816	ADA2	ORPHA:124
HP:0002242	Abnormal intestine morphology	8379	MAD1L1	OMIM:620189
HP:0002242	Abnormal intestine morphology	7373	COL14A1	ORPHA:79501
HP:0002242	Abnormal intestine morphology	79719	AAGAB	ORPHA:79501
HP:0002242	Abnormal intestine morphology	641	BLM	ORPHA:125
HP:0002242	Abnormal intestine morphology	55765	INAVA	OMIM:618077
HP:0002242	Abnormal intestine morphology	10747	MASP2	OMIM:613791
HP:0002242	Abnormal intestine morphology	27178	IL37	OMIM:619398
HP:0002242	Abnormal intestine morphology	79415	CYBC1	OMIM:618935
HP:0002242	Abnormal intestine morphology	6885	MAP3K7	OMIM:617137
HP:0002242	Abnormal intestine morphology	1794	DOCK2	OMIM:616433
HP:0002242	Abnormal intestine morphology	8313	AXIN2	ORPHA:401911
HP:0002242	Abnormal intestine morphology	4913	NTHL1	ORPHA:454840
HP:0002242	Abnormal intestine morphology	64218	SEMA4A	ORPHA:440437
HP:0002242	Abnormal intestine morphology	472	ATM	ORPHA:440437
HP:0002242	Abnormal intestine morphology	5426	POLE	ORPHA:440437
HP:0002242	Abnormal intestine morphology	5426	POLE	ORPHA:447877
HP:0002242	Abnormal intestine morphology	6224	RPS20	ORPHA:440437
HP:0002242	Abnormal intestine morphology	4595	MUTYH	ORPHA:440437
HP:0002242	Abnormal intestine morphology	5424	POLD1	ORPHA:440437
HP:0002242	Abnormal intestine morphology	5424	POLD1	ORPHA:447877
HP:0002242	Abnormal intestine morphology	11200	CHEK2	ORPHA:440437
HP:0002242	Abnormal intestine morphology	11200	CHEK2	ORPHA:524
HP:0002242	Abnormal intestine morphology	4437	MSH3	ORPHA:480536
HP:0002242	Abnormal intestine morphology	5573	PRKAR1A	ORPHA:1359
HP:0002242	Abnormal intestine morphology	50940	PDE11A	ORPHA:1359
HP:0002242	Abnormal intestine morphology	4193	MDM2	ORPHA:524
HP:0002242	Abnormal intestine morphology	145173	B3GLCT	ORPHA:709
HP:0002242	Abnormal intestine morphology	54894	RNF43	ORPHA:157798
HP:0002242	Abnormal intestine morphology	64220	STRA6	ORPHA:2470
HP:0002242	Abnormal intestine morphology	7477	WNT7B	ORPHA:2470
HP:0002242	Abnormal intestine morphology	8318	CDC45	OMIM:617063
HP:0002242	Abnormal intestine morphology	5395	PMS2	ORPHA:144
HP:0002242	Abnormal intestine morphology	7048	TGFBR2	ORPHA:144
HP:0002242	Abnormal intestine morphology	2956	MSH6	ORPHA:144
HP:0002242	Abnormal intestine morphology	5378	PMS1	ORPHA:144
HP:0002242	Abnormal intestine morphology	2658	GDF2	ORPHA:774
HP:0002242	Abnormal intestine morphology	94	ACVRL1	ORPHA:774
HP:0002242	Abnormal intestine morphology	2022	ENG	ORPHA:774
HP:0002242	Abnormal intestine morphology	9184	BUB3	ORPHA:1052
HP:0002242	Abnormal intestine morphology	699	BUB1	ORPHA:1052
HP:0002242	Abnormal intestine morphology	9702	CEP57	ORPHA:1052
HP:0002242	Abnormal intestine morphology	9319	TRIP13	ORPHA:1052
HP:0002242	Abnormal intestine morphology	701	BUB1B	ORPHA:1052
HP:0002242	Abnormal intestine morphology	2778	GNAS	OMIM:174800
HP:0002242	Abnormal intestine morphology	9817	KEAP1	ORPHA:276399
HP:0002242	Abnormal intestine morphology	23405	DICER1	ORPHA:276399
HP:0002629	Gastrointestinal arteriovenous malformation	94	ACVRL1	OMIM:600376
HP:0002629	Gastrointestinal arteriovenous malformation	94	ACVRL1	ORPHA:774
HP:0002629	Gastrointestinal arteriovenous malformation	2658	GDF2	ORPHA:774
HP:0002629	Gastrointestinal arteriovenous malformation	4089	SMAD4	ORPHA:774
HP:0002629	Gastrointestinal arteriovenous malformation	2022	ENG	ORPHA:774
HP:0002629	Gastrointestinal arteriovenous malformation	2022	ENG	OMIM:187300
HP:0002629	Gastrointestinal arteriovenous malformation	11146	GLMN	ORPHA:83454
HP:0020200	Increased circulating 18-hydroxycortisone level	1585	CYP11B2	OMIM:610600
HP:0020202	Abnormal Z disk morphology	10073	SNUPN	OMIM:620793
HP:0020202	Abnormal Z disk morphology	88	ACTN2	OMIM:618654
HP:0020202	Abnormal Z disk morphology	8087	FXR1	OMIM:618823
HP:0020202	Abnormal Z disk morphology	1073	CFL2	OMIM:610687
HP:0020202	Abnormal Z disk morphology	1674	DES	OMIM:181400
HP:0020202	Abnormal Z disk morphology	7138	TNNT1	OMIM:605355
HP:0020202	Abnormal Z disk morphology	339855	KY	OMIM:617114
HP:0020202	Abnormal Z disk morphology	8878	SQSTM1	OMIM:617158
HP:0020202	Abnormal Z disk morphology	146862	UNC45B	OMIM:619178
HP:0020202	Abnormal Z disk morphology	442721	LMOD2	OMIM:619897
HP:0020201	Abnormal sarcomere morphology	10073	SNUPN	OMIM:620793
HP:0020201	Abnormal sarcomere morphology	88	ACTN2	OMIM:618654
HP:0020201	Abnormal sarcomere morphology	8087	FXR1	OMIM:618823
HP:0020201	Abnormal sarcomere morphology	1073	CFL2	OMIM:610687
HP:0020201	Abnormal sarcomere morphology	1674	DES	OMIM:181400
HP:0020201	Abnormal sarcomere morphology	7138	TNNT1	OMIM:605355
HP:0020201	Abnormal sarcomere morphology	339855	KY	OMIM:617114
HP:0020201	Abnormal sarcomere morphology	146862	UNC45B	OMIM:619178
HP:0020201	Abnormal sarcomere morphology	3908	LAMA2	OMIM:618138
HP:0020201	Abnormal sarcomere morphology	6261	RYR1	ORPHA:98905
HP:0020201	Abnormal sarcomere morphology	6261	RYR1	ORPHA:324581
HP:0020201	Abnormal sarcomere morphology	122622	ADSS1	ORPHA:482601
HP:0020201	Abnormal sarcomere morphology	7273	TTN	ORPHA:178464
HP:0020201	Abnormal sarcomere morphology	8878	SQSTM1	OMIM:617158
HP:0020201	Abnormal sarcomere morphology	100996717	NOTCH2NLC	OMIM:619473
HP:0020201	Abnormal sarcomere morphology	203859	ANO5	ORPHA:206549
HP:0020201	Abnormal sarcomere morphology	442721	LMOD2	OMIM:619897
HP:0020207	Reflex seizure	154881	KCTD7	ORPHA:263516
HP:0020207	Reflex seizure	6335	SCN9A	ORPHA:33069
HP:0020207	Reflex seizure	6326	SCN2A	ORPHA:33069
HP:0020207	Reflex seizure	2554	GABRA1	ORPHA:33069
HP:0020207	Reflex seizure	6324	SCN1B	ORPHA:33069
HP:0020207	Reflex seizure	57526	PCDH19	ORPHA:33069
HP:0020207	Reflex seizure	2566	GABRG2	ORPHA:33069
HP:0020207	Reflex seizure	10479	SLC9A6	OMIM:300243
HP:0020207	Reflex seizure	114327	EFHC1	ORPHA:307
HP:0020207	Reflex seizure	2563	GABRD	ORPHA:307
HP:0020207	Reflex seizure	1181	CLCN2	ORPHA:307
HP:0020207	Reflex seizure	3786	KCNQ3	ORPHA:307
HP:0020207	Reflex seizure	22858	CILK1	ORPHA:307
HP:0020207	Reflex seizure	8629	JRK	ORPHA:307
HP:0020207	Reflex seizure	785	CACNB4	ORPHA:307
HP:0020207	Reflex seizure	8831	SYNGAP1	ORPHA:544254
HP:0020207	Reflex seizure	347733	TUBB2B	ORPHA:467166
HP:0020207	Reflex seizure	7846	TUBA1A	ORPHA:467166
HP:0020207	Reflex seizure	10381	TUBB3	ORPHA:467166
HP:0020207	Reflex seizure	1106	CHD2	OMIM:615369
HP:0020207	Reflex seizure	6323	SCN1A	OMIM:607208
HP:0020207	Reflex seizure	57094	CPA6	OMIM:614417
HP:0020208	Eating-induced seizure	8831	SYNGAP1	ORPHA:544254
HP:0020203	Z-band streaming	88	ACTN2	OMIM:618655
HP:0020203	Z-band streaming	8087	FXR1	OMIM:618823
HP:0020203	Z-band streaming	1073	CFL2	OMIM:610687
HP:0020203	Z-band streaming	1674	DES	OMIM:181400
HP:0020203	Z-band streaming	7138	TNNT1	OMIM:605355
HP:0020203	Z-band streaming	339855	KY	OMIM:617114
HP:0020203	Z-band streaming	8878	SQSTM1	OMIM:617158
HP:0020203	Z-band streaming	146862	UNC45B	OMIM:619178
HP:0020206	Simple ear	285590	SH3PXD2B	OMIM:249420
HP:0020206	Simple ear	5447	POR	OMIM:201750
HP:0020206	Simple ear	57003	CCDC47	OMIM:618268
HP:0020206	Simple ear	29998	BICRA	OMIM:619325
HP:0020206	Simple ear	440	ASNS	OMIM:615574
HP:0020206	Simple ear	6603	SMARCD2	OMIM:617475
HP:0020206	Simple ear	473	RERE	OMIM:616975
HP:0020206	Simple ear	2703	GJA8	OMIM:612474
HP:0020206	Simple ear	2702	GJA5	OMIM:612474
HP:0020206	Simple ear	2033	EP300	OMIM:180849
HP:0020206	Simple ear	1387	CREBBP	OMIM:180849
HP:0020206	Simple ear	23426	GRIP1	OMIM:617667
HP:0020206	Simple ear	7528	YY1	OMIM:617557
HP:0020206	Simple ear	2137	EXTL3	OMIM:617425
HP:0020206	Simple ear	523	ATP6V1A	OMIM:617403
HP:0020206	Simple ear	54187	NANS	OMIM:610442
HP:0020206	Simple ear	57539	WDR35	OMIM:613610
HP:0020206	Simple ear	1642	DDB1	OMIM:619426
HP:0020206	Simple ear	8449	DHX16	OMIM:618733
HP:0020206	Simple ear	55770	EXOC2	OMIM:619306
HP:0020206	Simple ear	6650	CAPN15	OMIM:619318
HP:0020206	Simple ear	9968	MED12	OMIM:305450
HP:0020206	Simple ear	26834	RNU4-2	OMIM:620851
HP:0020206	Simple ear	84081	NSRP1	OMIM:620001
HP:0020206	Simple ear	145258	GSC	OMIM:602471
HP:0010055	Broad hallux	10682	EBP	ORPHA:401973
HP:0010055	Broad hallux	10682	EBP	OMIM:300960
HP:0010055	Broad hallux	658	BMPR1B	OMIM:112600
HP:0010055	Broad hallux	650	BMP2	OMIM:112600
HP:0010055	Broad hallux	8200	GDF5	OMIM:112600
HP:0010055	Broad hallux	22827	PUF60	ORPHA:508498
HP:0010055	Broad hallux	8243	SMC1A	OMIM:301044
HP:0010055	Broad hallux	23394	ADNP	ORPHA:404448
HP:0010055	Broad hallux	23394	ADNP	OMIM:615873
HP:0010055	Broad hallux	10262	SF3B4	OMIM:154400
HP:0010055	Broad hallux	6477	SIAH1	OMIM:619314
HP:0010055	Broad hallux	10059	DNM1L	OMIM:614388
HP:0010055	Broad hallux	2263	FGFR2	OMIM:149730
HP:0010055	Broad hallux	2263	FGFR2	OMIM:123150
HP:0010055	Broad hallux	2263	FGFR2	OMIM:101600
HP:0010055	Broad hallux	2263	FGFR2	OMIM:101200
HP:0010055	Broad hallux	23314	SATB2	ORPHA:251028
HP:0010055	Broad hallux	9241	NOG	OMIM:184460
HP:0010055	Broad hallux	3239	HOXD13	OMIM:186000
HP:0010055	Broad hallux	1387	CREBBP	ORPHA:353281
HP:0010055	Broad hallux	1387	CREBBP	OMIM:180849
HP:0010055	Broad hallux	1387	CREBBP	ORPHA:353277
HP:0010055	Broad hallux	1387	CREBBP	OMIM:618332
HP:0010055	Broad hallux	1855	DVL1	OMIM:616331
HP:0010055	Broad hallux	8239	USP9X	OMIM:300919
HP:0010055	Broad hallux	4882	NPR2	OMIM:615923
HP:0010055	Broad hallux	2033	EP300	ORPHA:353284
HP:0010055	Broad hallux	2033	EP300	OMIM:180849
HP:0010055	Broad hallux	2033	EP300	OMIM:613684
HP:0010055	Broad hallux	2239	GPC4	OMIM:301026
HP:0010055	Broad hallux	8260	NAA10	OMIM:300855
HP:0010055	Broad hallux	8260	NAA10	ORPHA:276432
HP:0010055	Broad hallux	64359	NXN	OMIM:618529
HP:0010055	Broad hallux	29920	PYCR2	ORPHA:481152
HP:0010055	Broad hallux	51057	WDPCP	OMIM:217085
HP:0010055	Broad hallux	176	ACAN	OMIM:165800
HP:0010055	Broad hallux	444	ASPH	OMIM:601552
HP:0010055	Broad hallux	7319	UBE2A	OMIM:300860
HP:0010055	Broad hallux	9839	ZEB2	ORPHA:261552
HP:0010055	Broad hallux	9839	ZEB2	ORPHA:261537
HP:0010055	Broad hallux	4212	MEIS2	OMIM:600987
HP:0010055	Broad hallux	26040	SETBP1	OMIM:616078
HP:0010055	Broad hallux	5144	PDE4D	ORPHA:439822
HP:0010055	Broad hallux	57178	ZMIZ1	OMIM:618659
HP:0010055	Broad hallux	3930	LBR	OMIM:618019
HP:0010055	Broad hallux	26005	C2CD3	OMIM:615948
HP:0010055	Broad hallux	26005	C2CD3	ORPHA:434179
HP:0010055	Broad hallux	7291	TWIST1	OMIM:180750
HP:0010055	Broad hallux	1280	COL2A1	ORPHA:1856
HP:0010055	Broad hallux	1947	EFNB1	OMIM:304110
HP:0010055	Broad hallux	5518	PPP2R1A	OMIM:616362
HP:0010055	Broad hallux	5518	PPP2R1A	ORPHA:457284
HP:0010055	Broad hallux	3590	IL11RA	OMIM:614188
HP:0010055	Broad hallux	8558	CDK10	OMIM:617694
HP:0010055	Broad hallux	2737	GLI3	OMIM:175700
HP:0010055	Broad hallux	2737	GLI3	OMIM:174200
HP:0010055	Broad hallux	2254	FGF9	OMIM:612961
HP:0010055	Broad hallux	79005	SCNM1	OMIM:620107
HP:0010055	Broad hallux	4329	ALDH6A1	OMIM:614105
HP:0010055	Broad hallux	84720	PIGO	OMIM:614749
HP:0010055	Broad hallux	80036	TRPM3	OMIM:620224
HP:0010055	Broad hallux	8085	KMT2D	OMIM:620186
HP:0010055	Broad hallux	285362	SUMF1	OMIM:272200
HP:0010055	Broad hallux	10060	ABCC9	OMIM:239850
HP:0010055	Broad hallux	10236	HNRNPR	OMIM:620073
HP:0010055	Broad hallux	1457	CSNK2A1	OMIM:617062
HP:0010055	Broad hallux	2316	FLNA	OMIM:300321
HP:0010055	Broad hallux	2316	FLNA	OMIM:304120
HP:0010055	Broad hallux	2316	FLNA	OMIM:311300
HP:0010055	Broad hallux	54880	BCOR	OMIM:300166
HP:0010055	Broad hallux	28952	CCDC22	OMIM:300963
HP:0010055	Broad hallux	7140	TNNT3	OMIM:618435
HP:0010055	Broad hallux	2260	FGFR1	OMIM:123150
HP:0010055	Broad hallux	2260	FGFR1	OMIM:101600
HP:0010055	Broad hallux	9968	MED12	OMIM:305450
HP:0010055	Broad hallux	1482	NKX2-5	OMIM:217095
HP:0010055	Broad hallux	6899	TBX1	OMIM:217095
HP:0010055	Broad hallux	137814	NKX2-6	OMIM:217095
HP:0010055	Broad hallux	2627	GATA6	OMIM:217095
HP:0010055	Broad hallux	1749	DLX5	OMIM:183600
HP:0010055	Broad hallux	4920	ROR2	OMIM:268310
HP:0010055	Broad hallux	50515	CHST11	OMIM:618167
HP:0010055	Broad hallux	2186	BPTF	OMIM:617755
HP:0010055	Broad hallux	387	RHOA	OMIM:618727
HP:0010055	Broad hallux	51594	NBAS	OMIM:614800
HP:0010055	Broad hallux	9757	KMT2B	OMIM:619934
HP:0010055	Broad hallux	4750	NEK1	ORPHA:2751
HP:0010055	Broad hallux	3756	KCNH1	OMIM:611816
HP:0010055	Broad hallux	2261	FGFR3	OMIM:602849
HP:0010055	Broad hallux	2703	GJA8	OMIM:612474
HP:0010055	Broad hallux	2702	GJA5	OMIM:612474
HP:0010055	Broad hallux	9851	KIAA0753	OMIM:617127
HP:0010055	Broad hallux	6878	TAF6	OMIM:617126
HP:0010055	Broad hallux	9898	UBAP2L	OMIM:620494
HP:0010055	Broad hallux	4038	LRP4	OMIM:212780
HP:0009816	Lower limb undergrowth	2131	EXT1	ORPHA:321
HP:0009816	Lower limb undergrowth	2132	EXT2	ORPHA:321
HP:0009816	Lower limb undergrowth	1836	SLC26A2	ORPHA:56304
HP:0009816	Lower limb undergrowth	249	ALPL	OMIM:241500
HP:0009816	Lower limb undergrowth	2335	FN1	ORPHA:93315
HP:0009816	Lower limb undergrowth	1280	COL2A1	ORPHA:93315
HP:0009816	Lower limb undergrowth	23394	ADNP	OMIM:615873
HP:0009816	Lower limb undergrowth	5479	PPIB	OMIM:259440
HP:0009816	Lower limb undergrowth	4322	MMP13	OMIM:250400
HP:0009816	Lower limb undergrowth	4322	MMP13	ORPHA:93356
HP:0009816	Lower limb undergrowth	4322	MMP13	ORPHA:2501
HP:0009816	Lower limb undergrowth	3911	LAMA5	OMIM:620076
HP:0009816	Lower limb undergrowth	2767	GNA11	ORPHA:1556
HP:0009816	Lower limb undergrowth	151188	ARL6IP6	ORPHA:1556
HP:0009816	Lower limb undergrowth	9241	NOG	OMIM:186500
HP:0009816	Lower limb undergrowth	1147	CHUK	OMIM:613630
HP:0009816	Lower limb undergrowth	9060	PAPSS2	OMIM:612847
HP:0009816	Lower limb undergrowth	6473	SHOX	ORPHA:314795
HP:0005886	Aphalangy of the hands	9401	RECQL4	OMIM:218600
HP:0003038	Fibular hypoplasia	139285	AMER1	OMIM:300373
HP:0003038	Fibular hypoplasia	2535	FZD2	OMIM:164745
HP:0003038	Fibular hypoplasia	8200	GDF5	OMIM:200700
HP:0003038	Fibular hypoplasia	8200	GDF5	OMIM:615072
HP:0003038	Fibular hypoplasia	8200	GDF5	OMIM:201250
HP:0003038	Fibular hypoplasia	8200	GDF5	ORPHA:2098
HP:0003038	Fibular hypoplasia	8200	GDF5	OMIM:228900
HP:0003038	Fibular hypoplasia	79659	DYNC2H1	OMIM:613091
HP:0003038	Fibular hypoplasia	153241	CEP120	OMIM:616300
HP:0003038	Fibular hypoplasia	3899	AFF3	OMIM:619297
HP:0003038	Fibular hypoplasia	10082	GPC6	OMIM:258315
HP:0003038	Fibular hypoplasia	727857	BHLHA9	ORPHA:3329
HP:0003038	Fibular hypoplasia	658	BMPR1B	ORPHA:2098
HP:0003038	Fibular hypoplasia	3636	INPPL1	ORPHA:3144
HP:0003038	Fibular hypoplasia	23169	SLC35D1	ORPHA:3144
HP:0003038	Fibular hypoplasia	6473	SHOX	OMIM:127300
HP:0003038	Fibular hypoplasia	6473	SHOX	OMIM:249700
HP:0003038	Fibular hypoplasia	55764	IFT122	OMIM:218330
HP:0003038	Fibular hypoplasia	10262	SF3B4	ORPHA:1788
HP:0003038	Fibular hypoplasia	64093	SMOC1	ORPHA:1106
HP:0003038	Fibular hypoplasia	64093	SMOC1	OMIM:206920
HP:0003038	Fibular hypoplasia	5745	PTH1R	ORPHA:79106
HP:0003038	Fibular hypoplasia	5745	PTH1R	OMIM:600002
HP:0003038	Fibular hypoplasia	27125	AFF4	ORPHA:444077
HP:0003038	Fibular hypoplasia	6662	SOX9	ORPHA:140
HP:0003038	Fibular hypoplasia	6662	SOX9	OMIM:114290
HP:0003038	Fibular hypoplasia	9775	EIF4A3	OMIM:268305
HP:0003038	Fibular hypoplasia	1301	COL11A1	OMIM:228520
HP:0003038	Fibular hypoplasia	27152	INTU	OMIM:617925
HP:0003038	Fibular hypoplasia	4233	MET	OMIM:607278
HP:0003038	Fibular hypoplasia	2316	FLNA	OMIM:304120
HP:0003038	Fibular hypoplasia	545	ATR	OMIM:210600
HP:0003038	Fibular hypoplasia	25839	COG4	OMIM:618150
HP:0001831	Short toe	59344	ALOXE3	OMIM:242100
HP:0001831	Short toe	242	ALOX12B	OMIM:242100
HP:0001831	Short toe	1280	COL2A1	OMIM:271700
HP:0001831	Short toe	1280	COL2A1	OMIM:609162
HP:0001831	Short toe	5573	PRKAR1A	ORPHA:950
HP:0001831	Short toe	5144	PDE4D	ORPHA:950
HP:0001831	Short toe	5144	PDE4D	ORPHA:439822
HP:0001831	Short toe	7840	ALMS1	ORPHA:64
HP:0001831	Short toe	4882	NPR2	OMIM:602875
HP:0001831	Short toe	10262	SF3B4	OMIM:154400
HP:0001831	Short toe	145173	B3GLCT	OMIM:261540
HP:0001831	Short toe	145173	B3GLCT	ORPHA:709
HP:0001831	Short toe	10973	ASCC3	OMIM:620700
HP:0001831	Short toe	5593	PRKG2	OMIM:619636
HP:0001831	Short toe	100151683	RNU4ATAC	ORPHA:353298
HP:0001831	Short toe	100151683	RNU4ATAC	OMIM:616651
HP:0001831	Short toe	8200	GDF5	ORPHA:2098
HP:0001831	Short toe	658	BMPR1B	ORPHA:2098
HP:0001831	Short toe	658	BMPR1B	OMIM:609441
HP:0001831	Short toe	6023	RMRP	ORPHA:39041
HP:0001831	Short toe	6023	RMRP	OMIM:607095
HP:0001831	Short toe	55636	CHD7	ORPHA:39041
HP:0001831	Short toe	3981	LIG4	ORPHA:39041
HP:0001831	Short toe	5896	RAG1	ORPHA:39041
HP:0001831	Short toe	5897	RAG2	ORPHA:39041
HP:0001831	Short toe	64421	DCLRE1C	ORPHA:39041
HP:0001831	Short toe	100	ADA	ORPHA:39041
HP:0001831	Short toe	3575	IL7R	ORPHA:39041
HP:0001831	Short toe	3561	IL2RG	ORPHA:39041
HP:0001831	Short toe	1788	DNMT3A	ORPHA:404443
HP:0001831	Short toe	2261	FGFR3	ORPHA:429
HP:0001831	Short toe	59341	TRPV4	ORPHA:93314
HP:0001831	Short toe	6473	SHOX	OMIM:127300
HP:0001831	Short toe	1859	DYRK1A	ORPHA:464311
HP:0001831	Short toe	55027	HEATR3	OMIM:620072
HP:0001831	Short toe	79718	TBL1XR1	OMIM:602342
HP:0001831	Short toe	79718	TBL1XR1	ORPHA:487825
HP:0001831	Short toe	2316	FLNA	OMIM:300244
HP:0001831	Short toe	4089	SMAD4	OMIM:139210
HP:0001831	Short toe	9241	NOG	ORPHA:140908
HP:0001831	Short toe	54928	BPNT2	OMIM:614078
HP:0001831	Short toe	23426	GRIP1	OMIM:617667
HP:0001831	Short toe	1836	SLC26A2	ORPHA:93307
HP:0001831	Short toe	7140	TNNT3	OMIM:618435
HP:0001831	Short toe	25782	RAB3GAP2	OMIM:212720
HP:0001831	Short toe	23384	SPECC1L	ORPHA:1519
HP:0001831	Short toe	4297	KMT2A	OMIM:605130
HP:0001831	Short toe	55650	PIGV	OMIM:239300
HP:0001831	Short toe	9759	HDAC4	OMIM:600430
HP:0001831	Short toe	427	ASAH1	ORPHA:333
HP:0001831	Short toe	2239	GPC4	ORPHA:373
HP:0001831	Short toe	2719	GPC3	ORPHA:373
HP:0001831	Short toe	3039	HBA1	ORPHA:98791
HP:0001831	Short toe	3040	HBA2	ORPHA:98791
HP:0001831	Short toe	84295	PHF6	OMIM:301900
HP:0001831	Short toe	84295	PHF6	ORPHA:127
HP:0001831	Short toe	23483	TGDS	OMIM:616145
HP:0001831	Short toe	285203	EOGT	OMIM:615297
HP:0001831	Short toe	650	BMP2	OMIM:617877
HP:0001831	Short toe	8481	OFD1	ORPHA:2750
HP:0001831	Short toe	55764	IFT122	OMIM:218330
HP:0001831	Short toe	50945	TBX22	ORPHA:921
HP:0001831	Short toe	5745	PTH1R	ORPHA:79106
HP:0001831	Short toe	9896	FIG4	OMIM:216340
HP:0001831	Short toe	9896	FIG4	ORPHA:3472
HP:0001831	Short toe	1717	DHCR7	OMIM:270400
HP:0001831	Short toe	171023	ASXL1	OMIM:605039
HP:0001831	Short toe	55697	VAC14	ORPHA:3472
HP:0001831	Short toe	9509	ADAMTS2	OMIM:225410
HP:0001831	Short toe	9742	IFT140	OMIM:266920
HP:0001831	Short toe	375056	MIA3	OMIM:619269
HP:0001831	Short toe	7543	ZFX	OMIM:301118
HP:0001831	Short toe	57178	ZMIZ1	OMIM:618659
HP:0001831	Short toe	4613	MYCN	OMIM:164280
HP:0001831	Short toe	2697	GJA1	ORPHA:93404
HP:0001831	Short toe	10664	CTCF	OMIM:615502
HP:0001831	Short toe	4853	NOTCH2	ORPHA:955
HP:0001831	Short toe	2313	FLI1	ORPHA:2308
HP:0001831	Short toe	2778	GNAS	OMIM:103580
HP:0001831	Short toe	2690	GHR	ORPHA:633
HP:0001831	Short toe	9898	UBAP2L	OMIM:620494
HP:0001831	Short toe	2879	GPX4	OMIM:250220
HP:0001831	Short toe	5281	PIGF	OMIM:619356
HP:0001831	Short toe	415	ARSL	ORPHA:79345
HP:0001831	Short toe	3756	KCNH1	OMIM:135500
HP:0001831	Short toe	3209	HOXA13	OMIM:176305
HP:0001831	Short toe	3209	HOXA13	OMIM:140000
HP:0001831	Short toe	1327	COX4I1	OMIM:619060
HP:0001831	Short toe	113246	C12orf57	OMIM:218340
HP:0001831	Short toe	2263	FGFR2	OMIM:101600
HP:0001831	Short toe	2260	FGFR1	OMIM:101600
HP:0001831	Short toe	6662	SOX9	OMIM:114290
HP:0001831	Short toe	374969	SVBP	OMIM:618569
HP:0001831	Short toe	8936	WASF1	OMIM:618707
HP:0001831	Short toe	3239	HOXD13	OMIM:186000
HP:0001831	Short toe	23394	ADNP	OMIM:615873
HP:0001831	Short toe	6926	TBX3	OMIM:181450
HP:0001831	Short toe	90459	ERI1	OMIM:620662
HP:0001831	Short toe	2077	ERF	OMIM:617180
HP:0001831	Short toe	90	ACVR1	OMIM:135100
HP:0001831	Short toe	90	ACVR1	ORPHA:337
HP:0001831	Short toe	50515	CHST11	OMIM:618167
HP:0001831	Short toe	4256	MGP	OMIM:245150
HP:0001831	Short toe	22856	CHSY1	ORPHA:363417
HP:0001831	Short toe	7994	KAT6A	OMIM:616268
HP:0001831	Short toe	6091	ROBO1	OMIM:620305
HP:0001831	Short toe	10060	ABCC9	OMIM:239850
HP:0001831	Short toe	10060	ABCC9	ORPHA:1517
HP:0001831	Short toe	22827	PUF60	ORPHA:508488
HP:0001831	Short toe	727857	BHLHA9	ORPHA:157801
HP:0001831	Short toe	10815	CPLX1	ORPHA:280
HP:0001831	Short toe	10815	CPLX1	OMIM:194190
HP:0001831	Short toe	54872	PIGG	ORPHA:280
HP:0001831	Short toe	7469	NELFA	ORPHA:280
HP:0001831	Short toe	1487	CTBP1	ORPHA:280
HP:0001831	Short toe	1487	CTBP1	OMIM:194190
HP:0001831	Short toe	3954	LETM1	ORPHA:280
HP:0001831	Short toe	3954	LETM1	OMIM:194190
HP:0001831	Short toe	7468	NSD2	ORPHA:280
HP:0001831	Short toe	7468	NSD2	OMIM:194190
HP:0001831	Short toe	9775	EIF4A3	OMIM:268305
HP:0001831	Short toe	57167	SALL4	ORPHA:959
HP:0001831	Short toe	53834	FGFRL1	OMIM:194190
HP:0001831	Short toe	3764	KCNJ8	ORPHA:1517
HP:0001831	Short toe	3549	IHH	ORPHA:93388
HP:0001831	Short toe	7175	TPR	OMIM:620393
HP:0001831	Short toe	2033	EP300	OMIM:613684
HP:0001831	Short toe	3516	RBPJ	OMIM:614814
HP:0005881	Spinal instability	2137	EXTL3	ORPHA:508533
HP:0005881	Spinal instability	2137	EXTL3	OMIM:617425
HP:0005881	Spinal instability	4853	NOTCH2	OMIM:102500
HP:0005881	Spinal instability	1280	COL2A1	ORPHA:94068
HP:0005881	Spinal instability	1280	COL2A1	ORPHA:93346
HP:0005880	Metacarpophalangeal synostosis	9241	NOG	ORPHA:3250
HP:0005880	Metacarpophalangeal synostosis	9241	NOG	OMIM:185800
HP:0005880	Metacarpophalangeal synostosis	8200	GDF5	ORPHA:3250
HP:0005880	Metacarpophalangeal synostosis	10084	PQBP1	OMIM:309500
HP:0005880	Metacarpophalangeal synostosis	4841	NONO	OMIM:300967
HP:0002630	Fat malabsorption	9056	SLC7A7	ORPHA:470
HP:0002630	Fat malabsorption	57003	CCDC47	OMIM:618268
HP:0002630	Fat malabsorption	5193	PEX12	OMIM:266510
HP:0002630	Fat malabsorption	79827	CLMP	OMIM:615237
HP:0002630	Fat malabsorption	118429	ANTXR2	ORPHA:2176
HP:0002630	Fat malabsorption	338	APOB	OMIM:615558
HP:0002630	Fat malabsorption	1080	CFTR	OMIM:167800
HP:0002630	Fat malabsorption	1080	CFTR	ORPHA:586
HP:0002630	Fat malabsorption	1080	CFTR	OMIM:219700
HP:0002630	Fat malabsorption	11330	CTRC	OMIM:167800
HP:0002630	Fat malabsorption	5645	PRSS2	OMIM:167800
HP:0002630	Fat malabsorption	5644	PRSS1	OMIM:167800
HP:0002630	Fat malabsorption	6690	SPINK1	OMIM:167800
HP:0002630	Fat malabsorption	123264	SLC51B	OMIM:619481
HP:0002630	Fat malabsorption	6804	STX1A	ORPHA:586
HP:0002630	Fat malabsorption	2947	GSTM3	ORPHA:586
HP:0002630	Fat malabsorption	7040	TGFB1	ORPHA:586
HP:0002630	Fat malabsorption	7040	TGFB1	OMIM:219700
HP:0002630	Fat malabsorption	2729	GCLC	ORPHA:586
HP:0002630	Fat malabsorption	1084	CEACAM3	ORPHA:586
HP:0002630	Fat malabsorption	6556	SLC11A1	ORPHA:586
HP:0002630	Fat malabsorption	51164	DCTN4	ORPHA:586
HP:0002630	Fat malabsorption	3783	KCNN4	ORPHA:586
HP:0002630	Fat malabsorption	4282	MIF	ORPHA:586
HP:0002630	Fat malabsorption	1909	EDNRA	ORPHA:586
HP:0002630	Fat malabsorption	6550	SLC9A3	ORPHA:586
HP:0002630	Fat malabsorption	3162	HMOX1	ORPHA:586
HP:0002630	Fat malabsorption	115019	SLC26A9	ORPHA:586
HP:0002630	Fat malabsorption	3077	HFE	ORPHA:586
HP:0002630	Fat malabsorption	11254	SLC6A14	ORPHA:586
HP:0002630	Fat malabsorption	5265	SERPINA1	ORPHA:586
HP:0002630	Fat malabsorption	22802	CLCA4	ORPHA:586
HP:0002630	Fat malabsorption	4680	CEACAM6	ORPHA:586
HP:0002630	Fat malabsorption	3594	IL12RB1	ORPHA:186
HP:0002630	Fat malabsorption	23534	TNPO3	ORPHA:186
HP:0002630	Fat malabsorption	3592	IL12A	ORPHA:186
HP:0002630	Fat malabsorption	6689	SPIB	ORPHA:186
HP:0002630	Fat malabsorption	5450	POU2AF1	ORPHA:186
HP:0002630	Fat malabsorption	9966	TNFSF15	ORPHA:186
HP:0002630	Fat malabsorption	79258	MMEL1	ORPHA:186
HP:0002630	Fat malabsorption	3663	IRF5	ORPHA:186
HP:0002630	Fat malabsorption	6729	SRP54	OMIM:618752
HP:0002630	Fat malabsorption	6729	SRP54	OMIM:260400
HP:0002630	Fat malabsorption	8309	ACOX2	OMIM:617308
HP:0002630	Fat malabsorption	23729	SHPK	ORPHA:440713
HP:0002630	Fat malabsorption	3988	LIPA	ORPHA:75233
HP:0002630	Fat malabsorption	3988	LIPA	OMIM:278000
HP:0002630	Fat malabsorption	4072	EPCAM	ORPHA:92050
HP:0002630	Fat malabsorption	105371045	PERCC1	ORPHA:92050
HP:0002630	Fat malabsorption	2212	FCGR2A	OMIM:219700
HP:0002630	Fat malabsorption	4351	MPI	OMIM:602579
HP:0002630	Fat malabsorption	51651	PTRH2	OMIM:616263
HP:0002630	Fat malabsorption	3930	LBR	OMIM:613471
HP:0002630	Fat malabsorption	3117	HLA-DQA1	OMIM:212750
HP:0002630	Fat malabsorption	3119	HLA-DQB1	OMIM:212750
HP:0002630	Fat malabsorption	256297	PTF1A	OMIM:615935
HP:0002630	Fat malabsorption	3158	HMGCS2	OMIM:605911
HP:0002630	Fat malabsorption	84701	COX4I2	OMIM:612714
HP:0002630	Fat malabsorption	5373	PMM2	OMIM:212065
HP:0002630	Fat malabsorption	9414	TJP2	OMIM:607748
HP:0002630	Fat malabsorption	4547	MTTP	ORPHA:14
HP:0002630	Fat malabsorption	4547	MTTP	OMIM:200100
HP:0002630	Fat malabsorption	80270	HSD3B7	OMIM:607765
HP:0002630	Fat malabsorption	6555	SLC10A2	OMIM:613291
HP:0002630	Fat malabsorption	8647	ABCB11	OMIM:601847
HP:0002630	Fat malabsorption	5406	PNLIP	OMIM:614338
HP:0002630	Fat malabsorption	5205	ATP8B1	OMIM:211600
HP:0002630	Fat malabsorption	51128	SAR1B	ORPHA:71
HP:0002630	Fat malabsorption	23600	AMACR	OMIM:214950
HP:0002630	Fat malabsorption	199221	DZIP1L	ORPHA:731
HP:0002630	Fat malabsorption	5314	PKHD1	ORPHA:731
HP:0002630	Fat malabsorption	9420	CYP7B1	ORPHA:79302
HP:0002630	Fat malabsorption	134218	DNAJC21	ORPHA:811
HP:0002630	Fat malabsorption	79631	EFL1	ORPHA:811
HP:0002630	Fat malabsorption	51119	SBDS	ORPHA:811
HP:0002630	Fat malabsorption	6718	AKR1D1	ORPHA:79303
HP:0002632	Low-to-normal blood pressure	6557	SLC12A1	OMIM:601678
HP:0002632	Low-to-normal blood pressure	1188	CLCNKB	ORPHA:358
HP:0002632	Low-to-normal blood pressure	6559	SLC12A3	ORPHA:358
HP:0002632	Low-to-normal blood pressure	3758	KCNJ1	OMIM:241200
HP:0002633	Vasculitis	26191	PTPN22	ORPHA:397
HP:0002633	Vasculitis	26191	PTPN22	ORPHA:900
HP:0002633	Vasculitis	26191	PTPN22	OMIM:180300
HP:0002633	Vasculitis	3106	HLA-B	ORPHA:397
HP:0002633	Vasculitis	3106	HLA-B	ORPHA:3287
HP:0002633	Vasculitis	3106	HLA-B	ORPHA:117
HP:0002633	Vasculitis	3123	HLA-DRB1	ORPHA:397
HP:0002633	Vasculitis	8974	P4HA2	ORPHA:397
HP:0002633	Vasculitis	355	FAS	ORPHA:3261
HP:0002633	Vasculitis	355	FAS	OMIM:601859
HP:0002633	Vasculitis	355	FAS	ORPHA:117
HP:0002633	Vasculitis	356	FASLG	ORPHA:3261
HP:0002633	Vasculitis	356	FASLG	OMIM:601859
HP:0002633	Vasculitis	843	CASP10	ORPHA:3261
HP:0002633	Vasculitis	843	CASP10	OMIM:603909
HP:0002633	Vasculitis	90268	OTULIN	OMIM:617099
HP:0002633	Vasculitis	720	C4A	OMIM:614380
HP:0002633	Vasculitis	720	C4A	ORPHA:117
HP:0002633	Vasculitis	114548	NLRP3	OMIM:191900
HP:0002633	Vasculitis	114548	NLRP3	ORPHA:575
HP:0002633	Vasculitis	7454	WAS	ORPHA:906
HP:0002633	Vasculitis	7456	WIPF1	ORPHA:906
HP:0002633	Vasculitis	3426	CFI	OMIM:610984
HP:0002633	Vasculitis	1493	CTLA4	ORPHA:900
HP:0002633	Vasculitis	3115	HLA-DPB1	ORPHA:900
HP:0002633	Vasculitis	5657	PRTN3	ORPHA:900
HP:0002633	Vasculitis	3113	HLA-DPA1	ORPHA:900
HP:0002633	Vasculitis	4598	MVK	ORPHA:343
HP:0002633	Vasculitis	4210	MEFV	ORPHA:342
HP:0002633	Vasculitis	4210	MEFV	ORPHA:117
HP:0002633	Vasculitis	9051	PSTPIP1	OMIM:601979
HP:0002633	Vasculitis	11277	TREX1	OMIM:225750
HP:0002633	Vasculitis	51816	ADA2	OMIM:615688
HP:0002633	Vasculitis	64135	IFIH1	OMIM:615846
HP:0002633	Vasculitis	7132	TNFRSF1A	ORPHA:32960
HP:0002633	Vasculitis	4068	SH2D1A	OMIM:308240
HP:0002633	Vasculitis	331	XIAP	OMIM:308240
HP:0002633	Vasculitis	6335	SCN9A	ORPHA:90026
HP:0002633	Vasculitis	11280	SCN11A	ORPHA:90026
HP:0002633	Vasculitis	6336	SCN10A	ORPHA:90026
HP:0002633	Vasculitis	3593	IL12B	ORPHA:3287
HP:0002633	Vasculitis	6945	MLX	ORPHA:3287
HP:0002633	Vasculitis	10095	ARPC1B	OMIM:617718
HP:0002633	Vasculitis	3586	IL10	OMIM:180300
HP:0002633	Vasculitis	3586	IL10	ORPHA:117
HP:0002633	Vasculitis	6583	SLC22A4	OMIM:180300
HP:0002633	Vasculitis	4261	CIITA	OMIM:180300
HP:0002633	Vasculitis	51744	CD244	OMIM:180300
HP:0002633	Vasculitis	4795	NFKBIL1	OMIM:180300
HP:0002633	Vasculitis	29110	TBK1	OMIM:620880
HP:0002633	Vasculitis	4615	MYD88	ORPHA:33226
HP:0002633	Vasculitis	23495	TNFRSF13B	ORPHA:1572
HP:0002633	Vasculitis	4790	NFKB1	ORPHA:1572
HP:0002633	Vasculitis	4791	NFKB2	ORPHA:1572
HP:0002633	Vasculitis	115650	TNFRSF13C	ORPHA:1572
HP:0002633	Vasculitis	1380	CR2	ORPHA:1572
HP:0002633	Vasculitis	8742	TNFSF12	ORPHA:1572
HP:0002633	Vasculitis	930	CD19	ORPHA:1572
HP:0002633	Vasculitis	29851	ICOS	ORPHA:1572
HP:0002633	Vasculitis	931	MS4A1	ORPHA:1572
HP:0002633	Vasculitis	975	CD81	ORPHA:1572
HP:0002633	Vasculitis	359948	IRF2BP2	ORPHA:1572
HP:0002633	Vasculitis	54	ACP5	ORPHA:1855
HP:0002633	Vasculitis	149233	IL23R	ORPHA:117
HP:0002633	Vasculitis	6775	STAT4	ORPHA:117
HP:0002633	Vasculitis	1230	CCR1	ORPHA:117
HP:0002633	Vasculitis	3592	IL12A	ORPHA:117
HP:0002633	Vasculitis	101928376	IL12A-AS1	ORPHA:117
HP:0002633	Vasculitis	7099	TLR4	ORPHA:117
HP:0002633	Vasculitis	3459	IFNGR1	ORPHA:117
HP:0002633	Vasculitis	337867	UBAC2	ORPHA:117
HP:0002633	Vasculitis	51752	ERAP1	ORPHA:117
HP:0002633	Vasculitis	8302	KLRC4	ORPHA:117
HP:0002633	Vasculitis	64127	NOD2	ORPHA:90340
HP:0002633	Vasculitis	4860	PNP	OMIM:613179
HP:0002633	Vasculitis	81704	DOCK8	OMIM:243700
HP:0002633	Vasculitis	10621	POLR3F	OMIM:619872
HP:0002633	Vasculitis	5777	PTPN6	ORPHA:3243
HP:0002633	Vasculitis	1776	DNASE1L3	ORPHA:36412
HP:0002633	Vasculitis	4067	LYN	OMIM:620376
HP:0002633	Vasculitis	6850	SYK	OMIM:619381
HP:0002633	Vasculitis	5238	PGM3	ORPHA:443811
HP:0002633	Vasculitis	5238	PGM3	OMIM:615816
HP:0002633	Vasculitis	3594	IL12RB1	ORPHA:319552
HP:0002633	Vasculitis	713	C1QB	OMIM:620321
HP:0002633	Vasculitis	3055	HCK	OMIM:620296
HP:0002634	Arteriosclerosis	6609	SMPD1	ORPHA:77293
HP:0002634	Arteriosclerosis	63036	CELA2A	OMIM:618620
HP:0002634	Arteriosclerosis	336	APOA2	OMIM:143890
HP:0002634	Arteriosclerosis	2053	EPHX2	OMIM:143890
HP:0002634	Arteriosclerosis	10842	PPP1R17	OMIM:143890
HP:0002634	Arteriosclerosis	2690	GHR	OMIM:143890
HP:0002634	Arteriosclerosis	4629	MYH11	OMIM:132900
HP:0002634	Arteriosclerosis	4629	MYH11	ORPHA:229
HP:0002634	Arteriosclerosis	4629	MYH11	ORPHA:91387
HP:0002634	Arteriosclerosis	79184	BRCC3	ORPHA:280679
HP:0002634	Arteriosclerosis	1581	CYP7A1	ORPHA:209902
HP:0002634	Arteriosclerosis	2099	ESR1	ORPHA:785
HP:0002634	Arteriosclerosis	57104	PNPLA2	ORPHA:565612
HP:0002634	Arteriosclerosis	64131	XYLT1	OMIM:264800
HP:0002634	Arteriosclerosis	64132	XYLT2	OMIM:264800
HP:0002634	Arteriosclerosis	4015	LOX	OMIM:617168
HP:0002634	Arteriosclerosis	4015	LOX	ORPHA:91387
HP:0002634	Arteriosclerosis	57592	ZNF687	OMIM:616833
HP:0002634	Arteriosclerosis	7046	TGFBR1	ORPHA:91387
HP:0002634	Arteriosclerosis	7048	TGFBR2	ORPHA:91387
HP:0002634	Arteriosclerosis	4087	SMAD2	ORPHA:91387
HP:0002634	Arteriosclerosis	7043	TGFB3	ORPHA:91387
HP:0002634	Arteriosclerosis	4088	SMAD3	ORPHA:91387
HP:0002634	Arteriosclerosis	7042	TGFB2	ORPHA:91387
HP:0002634	Arteriosclerosis	4089	SMAD4	ORPHA:91387
HP:0002634	Arteriosclerosis	2200	FBN1	ORPHA:91387
HP:0002634	Arteriosclerosis	59	ACTA2	ORPHA:91387
HP:0002634	Arteriosclerosis	5592	PRKG1	ORPHA:91387
HP:0002634	Arteriosclerosis	2301	FOXE3	ORPHA:91387
HP:0002634	Arteriosclerosis	4144	MAT2A	ORPHA:91387
HP:0002634	Arteriosclerosis	23493	HEY2	ORPHA:91387
HP:0002634	Arteriosclerosis	8076	MFAP5	ORPHA:91387
HP:0002634	Arteriosclerosis	4638	MYLK	ORPHA:91387
HP:0002634	Arteriosclerosis	79875	THSD4	ORPHA:91387
HP:0002634	Arteriosclerosis	2006	ELN	ORPHA:91387
HP:0002634	Arteriosclerosis	4000	LMNA	ORPHA:280365
HP:0002634	Arteriosclerosis	4000	LMNA	ORPHA:740
HP:0002634	Arteriosclerosis	4000	LMNA	OMIM:151660
HP:0002634	Arteriosclerosis	4000	LMNA	ORPHA:2348
HP:0002634	Arteriosclerosis	5468	PPARG	ORPHA:79083
HP:0002634	Arteriosclerosis	8815	BANF1	OMIM:614008
HP:0002634	Arteriosclerosis	19	ABCA1	OMIM:205400
HP:0002634	Arteriosclerosis	19	ABCA1	ORPHA:425
HP:0002634	Arteriosclerosis	2677	GGCX	OMIM:610842
HP:0002634	Arteriosclerosis	2677	GGCX	ORPHA:91135
HP:0002634	Arteriosclerosis	7840	ALMS1	OMIM:203800
HP:0002634	Arteriosclerosis	7486	WRN	ORPHA:902
HP:0002634	Arteriosclerosis	189	AGXT	ORPHA:93598
HP:0002634	Arteriosclerosis	335	APOA1	ORPHA:425
HP:0002634	Arteriosclerosis	3081	HGD	ORPHA:56
HP:0002634	Arteriosclerosis	10269	ZMPSTE24	ORPHA:740
HP:0002634	Arteriosclerosis	26119	LDLRAP1	OMIM:603813
HP:0002634	Arteriosclerosis	3931	LCAT	ORPHA:79292
HP:0002634	Arteriosclerosis	84168	ANTXR1	ORPHA:2067
HP:0002634	Arteriosclerosis	55901	THSD1	ORPHA:231160
HP:0002634	Arteriosclerosis	7049	TGFBR3	ORPHA:231160
HP:0002634	Arteriosclerosis	1281	COL3A1	ORPHA:231160
HP:0002634	Arteriosclerosis	83854	ANGPTL6	ORPHA:231160
HP:0002634	Arteriosclerosis	2022	ENG	ORPHA:231160
HP:0002634	Arteriosclerosis	5654	HTRA1	ORPHA:199354
HP:0002634	Arteriosclerosis	2068	ERCC2	ORPHA:220295
HP:0002634	Arteriosclerosis	2073	ERCC5	ORPHA:220295
HP:0002634	Arteriosclerosis	2072	ERCC4	ORPHA:220295
HP:0002634	Arteriosclerosis	2071	ERCC3	ORPHA:220295
HP:0002634	Arteriosclerosis	847	CAT	ORPHA:926
HP:0002634	Arteriosclerosis	50485	SMARCAL1	OMIM:242900
HP:0002634	Arteriosclerosis	368	ABCC6	OMIM:177850
HP:0002634	Arteriosclerosis	3988	LIPA	ORPHA:75234
HP:0002634	Arteriosclerosis	6309	SC5D	OMIM:607330
HP:0002634	Arteriosclerosis	427	ASAH1	ORPHA:333
HP:0002634	Arteriosclerosis	2720	GLB1	OMIM:230650
HP:0002634	Arteriosclerosis	10577	NPC2	OMIM:607625
HP:0002634	Arteriosclerosis	5294	PIK3CG	OMIM:619802
HP:0002634	Arteriosclerosis	1439	CSF2RB	ORPHA:264675
HP:0002634	Arteriosclerosis	1438	CSF2RA	ORPHA:264675
HP:0002634	Arteriosclerosis	3123	HLA-DRB1	ORPHA:747
HP:0002634	Arteriosclerosis	4864	NPC1	OMIM:257220
HP:0002634	Arteriosclerosis	348	APOE	OMIM:269600
HP:0002634	Arteriosclerosis	4758	NEU1	OMIM:256550
HP:0002634	Arteriosclerosis	1593	CYP27A1	ORPHA:909
HP:0002634	Arteriosclerosis	7148	TNXB	ORPHA:230839
HP:0002634	Arteriosclerosis	116519	APOA5	OMIM:145750
HP:0002634	Arteriosclerosis	4023	LPL	OMIM:238600
HP:0002634	Arteriosclerosis	3053	SERPIND1	OMIM:612356
HP:0002634	Arteriosclerosis	3949	LDLR	ORPHA:391665
HP:0002634	Arteriosclerosis	255738	PCSK9	ORPHA:391665
HP:0002634	Arteriosclerosis	338	APOB	ORPHA:391665
HP:0002634	Arteriosclerosis	64240	ABCG5	ORPHA:391665
HP:0002634	Arteriosclerosis	64241	ABCG8	ORPHA:391665
HP:0002634	Arteriosclerosis	3990	LIPC	ORPHA:140905
HP:0002634	Arteriosclerosis	1161	ERCC8	ORPHA:90324
HP:0002634	Arteriosclerosis	2074	ERCC6	ORPHA:90324
HP:0002634	Arteriosclerosis	84984	CEP19	OMIM:615703
HP:0002634	Arteriosclerosis	338328	GPIHBP1	OMIM:615947
HP:0002634	Arteriosclerosis	4205	MEF2A	OMIM:608320
HP:0002634	Arteriosclerosis	4040	LRP6	OMIM:610947
HP:0002634	Arteriosclerosis	3913	LAMB2	OMIM:614199
HP:0002635	Type IV atherosclerotic lesion	348	APOE	ORPHA:412
HP:0002636	Dilatation of an abdominal artery	2022	ENG	OMIM:187300
HP:0002636	Dilatation of an abdominal artery	7048	TGFBR2	OMIM:610168
HP:0002636	Dilatation of an abdominal artery	1289	COL5A1	OMIM:619329
HP:0002637	Cerebral ischemia	3043	HBB	ORPHA:232
HP:0002637	Cerebral ischemia	94	ACVRL1	OMIM:600376
HP:0002637	Cerebral ischemia	51816	ADA2	OMIM:182410
HP:0002637	Cerebral ischemia	2022	ENG	OMIM:187300
HP:0002637	Cerebral ischemia	81031	SLC2A10	OMIM:208050
HP:0002637	Cerebral ischemia	6651	SON	ORPHA:500150
HP:0002637	Cerebral ischemia	2982	GUCY1A1	OMIM:615750
HP:0002637	Cerebral ischemia	6331	SCN5A	ORPHA:1344
HP:0002637	Cerebral ischemia	4878	NPPA	ORPHA:1344
HP:0002637	Cerebral ischemia	79184	BRCC3	ORPHA:280679
HP:0002637	Cerebral ischemia	1282	COL4A1	OMIM:175780
HP:0002637	Cerebral ischemia	2783	GNB2	OMIM:619503
HP:0002637	Cerebral ischemia	4629	MYH11	ORPHA:91387
HP:0002637	Cerebral ischemia	7046	TGFBR1	ORPHA:91387
HP:0002637	Cerebral ischemia	7048	TGFBR2	ORPHA:91387
HP:0002637	Cerebral ischemia	4015	LOX	ORPHA:91387
HP:0002637	Cerebral ischemia	4087	SMAD2	ORPHA:91387
HP:0002637	Cerebral ischemia	7043	TGFB3	ORPHA:91387
HP:0002637	Cerebral ischemia	4088	SMAD3	ORPHA:91387
HP:0002637	Cerebral ischemia	7042	TGFB2	ORPHA:91387
HP:0002637	Cerebral ischemia	4089	SMAD4	ORPHA:91387
HP:0002637	Cerebral ischemia	2200	FBN1	ORPHA:91387
HP:0002637	Cerebral ischemia	59	ACTA2	ORPHA:91387
HP:0002637	Cerebral ischemia	5592	PRKG1	ORPHA:91387
HP:0002637	Cerebral ischemia	2301	FOXE3	ORPHA:91387
HP:0002637	Cerebral ischemia	4144	MAT2A	ORPHA:91387
HP:0002637	Cerebral ischemia	23493	HEY2	ORPHA:91387
HP:0002637	Cerebral ischemia	8076	MFAP5	ORPHA:91387
HP:0002637	Cerebral ischemia	4638	MYLK	ORPHA:91387
HP:0002637	Cerebral ischemia	79875	THSD4	ORPHA:91387
HP:0002637	Cerebral ischemia	2658	GDF2	ORPHA:774
HP:0002637	Cerebral ischemia	7092	TLL1	ORPHA:99103
HP:0002637	Cerebral ischemia	57057	TBX20	ORPHA:99103
HP:0002637	Cerebral ischemia	4624	MYH6	ORPHA:99103
HP:0002637	Cerebral ischemia	1482	NKX2-5	ORPHA:99103
HP:0002637	Cerebral ischemia	70	ACTC1	ORPHA:99103
HP:0002637	Cerebral ischemia	10370	CITED2	ORPHA:99103
HP:0002637	Cerebral ischemia	2626	GATA4	ORPHA:99103
HP:0002637	Cerebral ischemia	2627	GATA6	ORPHA:99103
HP:0002637	Cerebral ischemia	4607	MYBPC3	OMIM:115197
HP:0002637	Cerebral ischemia	2717	GLA	OMIM:301500
HP:0002637	Cerebral ischemia	2717	GLA	ORPHA:324
HP:0002637	Cerebral ischemia	5167	ENPP1	ORPHA:51608
HP:0002637	Cerebral ischemia	5167	ENPP1	ORPHA:758
HP:0002637	Cerebral ischemia	368	ABCC6	ORPHA:51608
HP:0002637	Cerebral ischemia	368	ABCC6	ORPHA:758
HP:0002637	Cerebral ischemia	55107	ANO1	OMIM:620687
HP:0002637	Cerebral ischemia	71	ACTG1	ORPHA:2995
HP:0002637	Cerebral ischemia	60	ACTB	ORPHA:2995
HP:0002637	Cerebral ischemia	5654	HTRA1	OMIM:600142
HP:0002637	Cerebral ischemia	5654	HTRA1	OMIM:616779
HP:0002637	Cerebral ischemia	4000	LMNA	ORPHA:740
HP:0002637	Cerebral ischemia	10269	ZMPSTE24	ORPHA:740
HP:0002637	Cerebral ischemia	1281	COL3A1	ORPHA:286
HP:0002637	Cerebral ischemia	1281	COL3A1	ORPHA:231160
HP:0002637	Cerebral ischemia	3845	KRAS	OMIM:600268
HP:0002637	Cerebral ischemia	10019	SH2B3	ORPHA:3318
HP:0002637	Cerebral ischemia	811	CALR	ORPHA:3318
HP:0002637	Cerebral ischemia	7157	TP53	ORPHA:3318
HP:0002637	Cerebral ischemia	54790	TET2	ORPHA:3318
HP:0002637	Cerebral ischemia	57674	RNF213	OMIM:607151
HP:0002637	Cerebral ischemia	11093	ADAMTS13	OMIM:274150
HP:0002637	Cerebral ischemia	55901	THSD1	ORPHA:231160
HP:0002637	Cerebral ischemia	7049	TGFBR3	ORPHA:231160
HP:0002637	Cerebral ischemia	83854	ANGPTL6	ORPHA:231160
HP:0002637	Cerebral ischemia	26191	PTPN22	ORPHA:397
HP:0002637	Cerebral ischemia	26191	PTPN22	ORPHA:900
HP:0002637	Cerebral ischemia	3106	HLA-B	ORPHA:397
HP:0002637	Cerebral ischemia	3106	HLA-B	ORPHA:3287
HP:0002637	Cerebral ischemia	3106	HLA-B	ORPHA:117
HP:0002637	Cerebral ischemia	3123	HLA-DRB1	ORPHA:397
HP:0002637	Cerebral ischemia	8974	P4HA2	ORPHA:397
HP:0002637	Cerebral ischemia	4854	NOTCH3	ORPHA:136
HP:0002637	Cerebral ischemia	4352	MPL	ORPHA:71493
HP:0002637	Cerebral ischemia	7066	THPO	ORPHA:71493
HP:0002637	Cerebral ischemia	3717	JAK2	ORPHA:71493
HP:0002637	Cerebral ischemia	3717	JAK2	OMIM:263300
HP:0002637	Cerebral ischemia	875	CBS	ORPHA:394
HP:0002637	Cerebral ischemia	5290	PIK3CA	ORPHA:60040
HP:0002637	Cerebral ischemia	162417	NAGS	ORPHA:927
HP:0002637	Cerebral ischemia	4625	MYH7	ORPHA:1880
HP:0002637	Cerebral ischemia	6804	STX1A	ORPHA:904
HP:0002637	Cerebral ischemia	7461	CLIP2	ORPHA:904
HP:0002637	Cerebral ischemia	84277	DNAJC30	ORPHA:904
HP:0002637	Cerebral ischemia	8468	FKBP6	ORPHA:904
HP:0002637	Cerebral ischemia	5982	RFC2	ORPHA:904
HP:0002637	Cerebral ischemia	2969	GTF2I	ORPHA:904
HP:0002637	Cerebral ischemia	3984	LIMK1	ORPHA:904
HP:0002637	Cerebral ischemia	9569	GTF2IRD1	ORPHA:904
HP:0002637	Cerebral ischemia	155382	VPS37D	ORPHA:904
HP:0002637	Cerebral ischemia	155368	METTL27	ORPHA:904
HP:0002637	Cerebral ischemia	114049	BUD23	ORPHA:904
HP:0002637	Cerebral ischemia	7458	EIF4H	ORPHA:904
HP:0002637	Cerebral ischemia	84163	GTF2IRD2	ORPHA:904
HP:0002637	Cerebral ischemia	26608	TBL2	ORPHA:904
HP:0002637	Cerebral ischemia	653361	NCF1	ORPHA:904
HP:0002637	Cerebral ischemia	135886	TMEM270	ORPHA:904
HP:0002637	Cerebral ischemia	9031	BAZ1B	ORPHA:904
HP:0002637	Cerebral ischemia	2006	ELN	ORPHA:904
HP:0002637	Cerebral ischemia	6340	SCNN1G	ORPHA:526
HP:0002637	Cerebral ischemia	6338	SCNN1B	ORPHA:526
HP:0002637	Cerebral ischemia	6337	SCNN1A	ORPHA:526
HP:0002637	Cerebral ischemia	3593	IL12B	ORPHA:3287
HP:0002637	Cerebral ischemia	6945	MLX	ORPHA:3287
HP:0002637	Cerebral ischemia	1493	CTLA4	ORPHA:900
HP:0002637	Cerebral ischemia	3115	HLA-DPB1	ORPHA:900
HP:0002637	Cerebral ischemia	5657	PRTN3	ORPHA:900
HP:0002637	Cerebral ischemia	3113	HLA-DPA1	ORPHA:900
HP:0002637	Cerebral ischemia	8517	IKBKG	ORPHA:464
HP:0002637	Cerebral ischemia	351	APP	OMIM:605714
HP:0002637	Cerebral ischemia	50485	SMARCAL1	ORPHA:1830
HP:0002637	Cerebral ischemia	50485	SMARCAL1	OMIM:242900
HP:0002637	Cerebral ischemia	2050	EPHB4	ORPHA:137667
HP:0002637	Cerebral ischemia	5921	RASA1	ORPHA:137667
HP:0002637	Cerebral ischemia	149233	IL23R	ORPHA:117
HP:0002637	Cerebral ischemia	6775	STAT4	ORPHA:117
HP:0002637	Cerebral ischemia	3586	IL10	ORPHA:117
HP:0002637	Cerebral ischemia	4210	MEFV	ORPHA:117
HP:0002637	Cerebral ischemia	1230	CCR1	ORPHA:117
HP:0002637	Cerebral ischemia	355	FAS	ORPHA:117
HP:0002637	Cerebral ischemia	3592	IL12A	ORPHA:117
HP:0002637	Cerebral ischemia	101928376	IL12A-AS1	ORPHA:117
HP:0002637	Cerebral ischemia	7099	TLR4	ORPHA:117
HP:0002637	Cerebral ischemia	3459	IFNGR1	ORPHA:117
HP:0002637	Cerebral ischemia	720	C4A	ORPHA:117
HP:0002637	Cerebral ischemia	337867	UBAC2	ORPHA:117
HP:0002637	Cerebral ischemia	51752	ERAP1	ORPHA:117
HP:0002637	Cerebral ischemia	8302	KLRC4	ORPHA:117
HP:0002637	Cerebral ischemia	1499	CTNNB1	ORPHA:54595
HP:0002637	Cerebral ischemia	673	BRAF	ORPHA:54595
HP:0002637	Cerebral ischemia	79709	COLGALT1	OMIM:618360
HP:0002637	Cerebral ischemia	4668	NAGA	OMIM:609242
HP:0002637	Cerebral ischemia	5286	PIK3C2A	OMIM:618440
HP:0002638	Superficial thrombophlebitis	5627	PROS1	OMIM:614514
HP:0002638	Superficial thrombophlebitis	5627	PROS1	OMIM:612336
HP:0002638	Superficial thrombophlebitis	5624	PROC	OMIM:612304
HP:0002638	Superficial thrombophlebitis	5624	PROC	OMIM:176860
HP:0002638	Superficial thrombophlebitis	462	SERPINC1	ORPHA:82
HP:0002638	Superficial thrombophlebitis	149233	IL23R	ORPHA:117
HP:0002638	Superficial thrombophlebitis	6775	STAT4	ORPHA:117
HP:0002638	Superficial thrombophlebitis	3586	IL10	ORPHA:117
HP:0002638	Superficial thrombophlebitis	4210	MEFV	ORPHA:117
HP:0002638	Superficial thrombophlebitis	1230	CCR1	ORPHA:117
HP:0002638	Superficial thrombophlebitis	355	FAS	ORPHA:117
HP:0002638	Superficial thrombophlebitis	3592	IL12A	ORPHA:117
HP:0002638	Superficial thrombophlebitis	101928376	IL12A-AS1	ORPHA:117
HP:0002638	Superficial thrombophlebitis	3106	HLA-B	ORPHA:117
HP:0002638	Superficial thrombophlebitis	7099	TLR4	ORPHA:117
HP:0002638	Superficial thrombophlebitis	3459	IFNGR1	ORPHA:117
HP:0002638	Superficial thrombophlebitis	720	C4A	ORPHA:117
HP:0002638	Superficial thrombophlebitis	337867	UBAC2	ORPHA:117
HP:0002638	Superficial thrombophlebitis	51752	ERAP1	ORPHA:117
HP:0002638	Superficial thrombophlebitis	8302	KLRC4	ORPHA:117
HP:0002639	Budd-Chiari syndrome	2153	F5	OMIM:600880
HP:0002639	Budd-Chiari syndrome	3717	JAK2	OMIM:600880
HP:0002639	Budd-Chiari syndrome	3717	JAK2	ORPHA:729
HP:0002639	Budd-Chiari syndrome	3717	JAK2	OMIM:263300
HP:0002639	Budd-Chiari syndrome	26277	TINF2	OMIM:127550
HP:0002639	Budd-Chiari syndrome	7012	TERC	OMIM:127550
HP:0002639	Budd-Chiari syndrome	7015	TERT	OMIM:127550
HP:0002639	Budd-Chiari syndrome	1604	CD55	OMIM:226300
HP:0002639	Budd-Chiari syndrome	5277	PIGA	ORPHA:447
HP:0020219	Motor seizure	401474	SAMD12	OMIM:601068
HP:0020219	Motor seizure	4558	MT-TF	ORPHA:551
HP:0020219	Motor seizure	4558	MT-TF	OMIM:545000
HP:0020219	Motor seizure	4549	MT-RNR1	ORPHA:551
HP:0020219	Motor seizure	4574	MT-TS1	ORPHA:551
HP:0020219	Motor seizure	4575	MT-TS2	ORPHA:551
HP:0020219	Motor seizure	4571	MT-TP	ORPHA:551
HP:0020219	Motor seizure	4571	MT-TP	OMIM:545000
HP:0020219	Motor seizure	4572	MT-TQ	ORPHA:551
HP:0020219	Motor seizure	4564	MT-TH	ORPHA:551
HP:0020219	Motor seizure	10059	DNM1L	ORPHA:330050
HP:0020219	Motor seizure	7915	ALDH5A1	ORPHA:22
HP:0020219	Motor seizure	7915	ALDH5A1	OMIM:271980
HP:0020219	Motor seizure	4524	MTHFR	ORPHA:395
HP:0020219	Motor seizure	2720	GLB1	OMIM:230600
HP:0020219	Motor seizure	2896	GRN	OMIM:614706
HP:0020219	Motor seizure	4758	NEU1	ORPHA:93399
HP:0020219	Motor seizure	64324	NSD1	ORPHA:821
HP:0020219	Motor seizure	79587	CARS2	ORPHA:477774
HP:0020219	Motor seizure	54820	NDE1	OMIM:605013
HP:0020219	Motor seizure	6774	STAT3	ORPHA:99885
HP:0020219	Motor seizure	2645	GCK	ORPHA:99885
HP:0020219	Motor seizure	3651	PDX1	ORPHA:99885
HP:0020219	Motor seizure	6833	ABCC8	ORPHA:99885
HP:0020219	Motor seizure	3630	INS	ORPHA:99885
HP:0020219	Motor seizure	10166	SLC25A15	ORPHA:415
HP:0020219	Motor seizure	10166	SLC25A15	OMIM:238970
HP:0020219	Motor seizure	4694	NDUFA1	OMIM:301020
HP:0020219	Motor seizure	79947	DHDDS	OMIM:617836
HP:0020219	Motor seizure	10939	AFG3L2	ORPHA:313772
HP:0020219	Motor seizure	10939	AFG3L2	OMIM:614487
HP:0020219	Motor seizure	51651	PTRH2	ORPHA:456312
HP:0020219	Motor seizure	4565	MT-TI	OMIM:545000
HP:0020219	Motor seizure	5283	PIGH	OMIM:618010
HP:0020219	Motor seizure	83696	TRAPPC9	ORPHA:352530
HP:0020219	Motor seizure	6785	ELOVL4	OMIM:614457
HP:0020219	Motor seizure	2629	GBA1	OMIM:231000
HP:0020219	Motor seizure	2629	GBA1	ORPHA:2072
HP:0020219	Motor seizure	2629	GBA1	ORPHA:77261
HP:0020219	Motor seizure	2629	GBA1	ORPHA:77260
HP:0020219	Motor seizure	57061	HYMAI	ORPHA:96191
HP:0020219	Motor seizure	5325	PLAGL1	ORPHA:96191
HP:0020219	Motor seizure	56978	PRDM8	OMIM:616640
HP:0020219	Motor seizure	4983	OPHN1	ORPHA:137831
HP:0020219	Motor seizure	5293	PIK3CD	ORPHA:221139
HP:0020219	Motor seizure	5293	PIK3CD	OMIM:613328
HP:0020219	Motor seizure	90417	KNSTRN	ORPHA:221139
HP:0020219	Motor seizure	90417	KNSTRN	OMIM:613328
HP:0020219	Motor seizure	79143	MBOAT7	OMIM:617188
HP:0020219	Motor seizure	256471	MFSD8	OMIM:610951
HP:0020219	Motor seizure	1181	CLCN2	OMIM:607628
HP:0020219	Motor seizure	54802	TRIT1	OMIM:617873
HP:0020219	Motor seizure	84823	LMNB2	OMIM:616540
HP:0020219	Motor seizure	2055	CLN8	ORPHA:1947
HP:0020219	Motor seizure	2581	GALC	ORPHA:206436
HP:0020219	Motor seizure	10295	BCKDK	OMIM:614923
HP:0020219	Motor seizure	701	BUB1B	OMIM:257300
HP:0020219	Motor seizure	10243	GPHN	OMIM:615501
HP:0020219	Motor seizure	221927	BRAT1	OMIM:614498
HP:0020219	Motor seizure	22858	CILK1	OMIM:617924
HP:0020219	Motor seizure	50801	KCNK4	OMIM:618381
HP:0020219	Motor seizure	8504	PEX3	OMIM:617370
HP:0020219	Motor seizure	9211	LGI1	OMIM:600512
HP:0020219	Motor seizure	5649	RELN	OMIM:600512
HP:0020219	Motor seizure	64780	MICAL1	OMIM:600512
HP:0020219	Motor seizure	132158	GLYCTK	OMIM:220120
HP:0020219	Motor seizure	53616	ADAM22	OMIM:617933
HP:0020219	Motor seizure	284058	KANSL1	ORPHA:363965
HP:0020219	Motor seizure	284058	KANSL1	ORPHA:363958
HP:0020219	Motor seizure	51117	COQ4	OMIM:616276
HP:0020219	Motor seizure	50485	SMARCAL1	ORPHA:1830
HP:0020219	Motor seizure	10479	SLC9A6	OMIM:300243
HP:0020219	Motor seizure	8629	JRK	ORPHA:307
HP:0020219	Motor seizure	25977	NECAP1	OMIM:615833
HP:0020219	Motor seizure	6134	RPL10	ORPHA:459070
HP:0020219	Motor seizure	785	CACNB4	OMIM:607682
HP:0020219	Motor seizure	22796	COG2	ORPHA:435934
HP:0020219	Motor seizure	22796	COG2	OMIM:617395
HP:0020219	Motor seizure	55610	VPS50	OMIM:619685
HP:0020219	Motor seizure	56997	COQ8A	OMIM:612016
HP:0020219	Motor seizure	340024	SLC6A19	OMIM:234500
HP:0020219	Motor seizure	3735	KARS1	OMIM:619147
HP:0020219	Motor seizure	10664	CTCF	OMIM:615502
HP:0020219	Motor seizure	610	HCN2	OMIM:602477
HP:0020219	Motor seizure	6323	SCN1A	OMIM:607208
HP:0020219	Motor seizure	6323	SCN1A	OMIM:604403
HP:0020219	Motor seizure	6323	SCN1A	ORPHA:1942
HP:0020219	Motor seizure	6323	SCN1A	ORPHA:2382
HP:0020219	Motor seizure	6323	SCN1A	ORPHA:36387
HP:0020219	Motor seizure	57526	PCDH19	ORPHA:101039
HP:0020219	Motor seizure	57526	PCDH19	OMIM:300088
HP:0020219	Motor seizure	6197	RPS6KA3	ORPHA:192
HP:0020219	Motor seizure	340533	NEXMIF	OMIM:300912
HP:0020219	Motor seizure	340533	NEXMIF	ORPHA:1942
HP:0020219	Motor seizure	1173	AP2M1	OMIM:618587
HP:0020219	Motor seizure	1173	AP2M1	ORPHA:1942
HP:0020219	Motor seizure	2903	GRIN2A	OMIM:245570
HP:0020219	Motor seizure	2903	GRIN2A	ORPHA:725
HP:0020219	Motor seizure	23316	CUX2	OMIM:618141
HP:0020219	Motor seizure	23316	CUX2	ORPHA:2382
HP:0020219	Motor seizure	9853	RUSC2	OMIM:617773
HP:0020219	Motor seizure	1859	DYRK1A	ORPHA:268261
HP:0020219	Motor seizure	3747	KCNC2	OMIM:619913
HP:0020219	Motor seizure	8733	GPAA1	OMIM:617810
HP:0020219	Motor seizure	85440	DOCK7	ORPHA:411986
HP:0020219	Motor seizure	85440	DOCK7	OMIM:615859
HP:0020219	Motor seizure	527	ATP6V0C	OMIM:620465
HP:0020219	Motor seizure	84320	ACBD6	OMIM:620785
HP:0020219	Motor seizure	6709	SPTAN1	OMIM:620540
HP:0020219	Motor seizure	8659	ALDH4A1	ORPHA:79101
HP:0020219	Motor seizure	51343	FZR1	OMIM:620145
HP:0020219	Motor seizure	378884	NHLRC1	ORPHA:501
HP:0020219	Motor seizure	378884	NHLRC1	OMIM:620681
HP:0020219	Motor seizure	7957	EPM2A	ORPHA:501
HP:0020219	Motor seizure	10159	ATP6AP2	ORPHA:93952
HP:0020219	Motor seizure	83475	DOHH	OMIM:620066
HP:0020219	Motor seizure	9289	ADGRG1	ORPHA:101070
HP:0020219	Motor seizure	5728	PTEN	ORPHA:101070
HP:0020219	Motor seizure	1457	CSNK2A1	OMIM:617062
HP:0020219	Motor seizure	2593	GAMT	ORPHA:382
HP:0020219	Motor seizure	2593	GAMT	OMIM:612736
HP:0020219	Motor seizure	387119	CEP85L	OMIM:618873
HP:0020219	Motor seizure	79868	ALG13	OMIM:300884
HP:0020219	Motor seizure	112755	STX1B	OMIM:616172
HP:0020219	Motor seizure	112755	STX1B	ORPHA:36387
HP:0020219	Motor seizure	2566	GABRG2	OMIM:618396
HP:0020219	Motor seizure	2566	GABRG2	ORPHA:36387
HP:0020219	Motor seizure	3745	KCNB1	OMIM:616056
HP:0020219	Motor seizure	6487	ST3GAL3	OMIM:615006
HP:0020219	Motor seizure	1106	CHD2	OMIM:615369
HP:0020219	Motor seizure	1106	CHD2	ORPHA:1942
HP:0020219	Motor seizure	1106	CHD2	ORPHA:2382
HP:0020219	Motor seizure	2782	GNB1	OMIM:616973
HP:0020219	Motor seizure	10565	ARFGEF1	OMIM:619964
HP:0020219	Motor seizure	23096	IQSEC2	OMIM:309530
HP:0020219	Motor seizure	23031	MAST3	OMIM:620115
HP:0020219	Motor seizure	5290	PIK3CA	ORPHA:99802
HP:0020219	Motor seizure	2475	MTOR	ORPHA:99802
HP:0020219	Motor seizure	10000	AKT3	ORPHA:99802
HP:0020219	Motor seizure	55768	NGLY1	ORPHA:404454
HP:0020219	Motor seizure	427	ASAH1	ORPHA:2590
HP:0020219	Motor seizure	3192	HNRNPU	OMIM:617391
HP:0020219	Motor seizure	1351	COX8A	OMIM:619059
HP:0020219	Motor seizure	2898	GRIK2	OMIM:611092
HP:0020219	Motor seizure	10588	MTHFS	OMIM:618367
HP:0020219	Motor seizure	6529	SLC6A1	OMIM:616421
HP:0020219	Motor seizure	6529	SLC6A1	ORPHA:1942
HP:0020219	Motor seizure	2562	GABRB3	OMIM:617113
HP:0020219	Motor seizure	2562	GABRB3	ORPHA:2382
HP:0020219	Motor seizure	54496	PRMT7	OMIM:617157
HP:0020219	Motor seizure	25885	POLR1A	OMIM:616462
HP:0020219	Motor seizure	26047	CNTNAP2	OMIM:610042
HP:0020219	Motor seizure	816	CAMK2B	OMIM:617799
HP:0020219	Motor seizure	1759	DNM1	OMIM:616346
HP:0020219	Motor seizure	1759	DNM1	ORPHA:2382
HP:0020219	Motor seizure	23732	FRRS1L	ORPHA:725
HP:0020219	Motor seizure	84059	ADGRV1	OMIM:604352
HP:0020219	Motor seizure	84059	ADGRV1	ORPHA:36387
HP:0020219	Motor seizure	5048	PAFAH1B1	ORPHA:95232
HP:0020219	Motor seizure	6324	SCN1B	OMIM:604233
HP:0020219	Motor seizure	6324	SCN1B	ORPHA:1934
HP:0020219	Motor seizure	6324	SCN1B	ORPHA:36387
HP:0020219	Motor seizure	8813	DPM1	ORPHA:79322
HP:0020219	Motor seizure	6513	SLC2A1	ORPHA:1942
HP:0020219	Motor seizure	8831	SYNGAP1	ORPHA:1942
HP:0020219	Motor seizure	501	ALDH7A1	ORPHA:3006
HP:0020219	Motor seizure	11212	PLPBP	ORPHA:3006
HP:0020219	Motor seizure	6812	STXBP1	ORPHA:599373
HP:0020219	Motor seizure	5602	MAPK10	ORPHA:2382
HP:0020219	Motor seizure	773	CACNA1A	ORPHA:2382
HP:0020219	Motor seizure	1496	CTNNA2	OMIM:618174
HP:0020219	Motor seizure	93183	PIGM	OMIM:610293
HP:0020219	Motor seizure	79813	EHMT1	OMIM:610253
HP:0020219	Motor seizure	2783	GNB2	OMIM:619503
HP:0020219	Motor seizure	2554	GABRA1	OMIM:615744
HP:0020219	Motor seizure	9570	GOSR2	OMIM:614018
HP:0020219	Motor seizure	26227	PHGDH	ORPHA:79351
HP:0020219	Motor seizure	144165	PRICKLE1	OMIM:612437
HP:0020219	Motor seizure	140679	SLC32A1	OMIM:620774
HP:0020219	Motor seizure	140679	SLC32A1	ORPHA:1934
HP:0020219	Motor seizure	78987	CRELD1	OMIM:620771
HP:0020219	Motor seizure	6792	CDKL5	ORPHA:1934
HP:0020219	Motor seizure	3736	KCNA1	ORPHA:1934
HP:0020219	Motor seizure	9091	PIGQ	ORPHA:1934
HP:0020219	Motor seizure	2775	GNAO1	ORPHA:1934
HP:0020219	Motor seizure	81603	TRIM8	ORPHA:1934
HP:0020219	Motor seizure	2902	GRIN1	ORPHA:1934
HP:0020219	Motor seizure	2902	GRIN1	ORPHA:208447
HP:0020219	Motor seizure	79751	SLC25A22	ORPHA:1934
HP:0020219	Motor seizure	150094	SIK1	ORPHA:1934
HP:0020219	Motor seizure	8573	CASK	ORPHA:1934
HP:0020219	Motor seizure	23312	DMXL2	ORPHA:1934
HP:0020219	Motor seizure	2917	GRM7	ORPHA:1934
HP:0020219	Motor seizure	170302	ARX	ORPHA:1934
HP:0020219	Motor seizure	11284	PNKP	ORPHA:1934
HP:0020219	Motor seizure	6326	SCN2A	ORPHA:1934
HP:0020219	Motor seizure	6326	SCN2A	ORPHA:36387
HP:0020219	Motor seizure	51227	PIGP	ORPHA:1934
HP:0020219	Motor seizure	4761	NEUROD2	ORPHA:1934
HP:0020219	Motor seizure	6335	SCN9A	ORPHA:36387
HP:0020219	Motor seizure	2563	GABRD	ORPHA:36387
HP:0020219	Motor seizure	112476	PRRT2	ORPHA:36387
HP:0020219	Motor seizure	348980	HCN1	ORPHA:36387
HP:0020219	Motor seizure	2258	FGF13	ORPHA:36387
HP:0020219	Motor seizure	1798	DPAGT1	ORPHA:86309
HP:0020219	Motor seizure	443	ASPA	OMIM:271900
HP:0020219	Motor seizure	343450	KCNT2	OMIM:617771
HP:0020219	Motor seizure	10815	CPLX1	OMIM:617976
HP:0020219	Motor seizure	3458	IFNG	OMIM:613254
HP:0020219	Motor seizure	3458	IFNG	ORPHA:805
HP:0020219	Motor seizure	7249	TSC2	OMIM:613254
HP:0020219	Motor seizure	7249	TSC2	ORPHA:805
HP:0020219	Motor seizure	92609	TIMM50	OMIM:617698
HP:0020219	Motor seizure	116115	ZNF526	OMIM:619877
HP:0020219	Motor seizure	538	ATP7A	OMIM:309400
HP:0020219	Motor seizure	4191	MDH2	OMIM:617339
HP:0020219	Motor seizure	57468	SLC12A5	ORPHA:293181
HP:0020219	Motor seizure	23236	PLCB1	ORPHA:293181
HP:0020219	Motor seizure	23236	PLCB1	OMIM:613722
HP:0020219	Motor seizure	3785	KCNQ2	ORPHA:293181
HP:0020219	Motor seizure	3785	KCNQ2	ORPHA:439218
HP:0020219	Motor seizure	57582	KCNT1	ORPHA:293181
HP:0020219	Motor seizure	5277	PIGA	ORPHA:293181
HP:0020219	Motor seizure	57465	TBC1D24	ORPHA:293181
HP:0020219	Motor seizure	1917	EEF1A2	OMIM:616409
HP:0020219	Motor seizure	8496	PPFIBP1	OMIM:620024
HP:0020219	Motor seizure	6595	SMARCA2	ORPHA:3051
HP:0020219	Motor seizure	51112	TRAPPC12	ORPHA:500144
HP:0020219	Motor seizure	51112	TRAPPC12	OMIM:617669
HP:0020219	Motor seizure	2571	GAD1	OMIM:619124
HP:0020219	Motor seizure	8867	SYNJ1	OMIM:617389
HP:0020219	Motor seizure	51741	WWOX	OMIM:616211
HP:0020219	Motor seizure	10659	CELF2	OMIM:619561
HP:0020219	Motor seizure	7358	UGDH	OMIM:618792
HP:0020219	Motor seizure	56947	MFF	ORPHA:485421
HP:0020219	Motor seizure	56947	MFF	OMIM:617086
HP:0020219	Motor seizure	2904	GRIN2B	OMIM:616139
HP:0020219	Motor seizure	478	ATP1A3	OMIM:619606
HP:0020219	Motor seizure	6506	SLC1A2	OMIM:617105
HP:0020219	Motor seizure	6334	SCN8A	OMIM:614558
HP:0020219	Motor seizure	7248	TSC1	OMIM:191100
HP:0020219	Motor seizure	7248	TSC1	ORPHA:805
HP:0020219	Motor seizure	2556	GABRA3	OMIM:301091
HP:0020219	Motor seizure	6904	TBCD	OMIM:617193
HP:0020219	Motor seizure	535	ATP6V0A1	OMIM:619971
HP:0020219	Motor seizure	535	ATP6V0A1	OMIM:619970
HP:0020219	Motor seizure	7355	SLC35A2	OMIM:300896
HP:0020219	Motor seizure	23154	NCDN	OMIM:619373
HP:0020219	Motor seizure	85365	ALG2	OMIM:607906
HP:0020219	Motor seizure	5530	PPP3CA	OMIM:617711
HP:0020219	Motor seizure	100151683	RNU4ATAC	ORPHA:2636
HP:0020219	Motor seizure	79718	TBL1XR1	OMIM:616944
HP:0020219	Motor seizure	29968	PSAT1	ORPHA:284417
HP:0020219	Motor seizure	1327	COX4I1	OMIM:619060
HP:0020219	Motor seizure	774	CACNA1B	OMIM:618497
HP:0020219	Motor seizure	4905	NSF	OMIM:619340
HP:0020219	Motor seizure	221692	PHACTR1	OMIM:618298
HP:0020219	Motor seizure	58497	PRUNE1	ORPHA:544469
HP:0020219	Motor seizure	55361	PI4K2A	OMIM:620732
HP:0020219	Motor seizure	10695	CNPY3	OMIM:617929
HP:0020219	Motor seizure	1974	EIF4A2	OMIM:620455
HP:0020219	Motor seizure	26040	SETBP1	ORPHA:798
HP:0020219	Motor seizure	5813	PURA	ORPHA:314655
HP:0020219	Motor seizure	1719	DHFR	OMIM:613839
HP:0020219	Motor seizure	6611	SMS	ORPHA:3063
HP:0020219	Motor seizure	23443	SLC35A3	OMIM:615553
HP:0020219	Motor seizure	727676	SNORD118	ORPHA:542310
HP:0020219	Motor seizure	84188	FAR1	OMIM:619338
HP:0020219	Motor seizure	4929	NR4A2	OMIM:619911
HP:0020219	Motor seizure	6507	SLC1A3	ORPHA:2131
HP:0020219	Motor seizure	477	ATP1A2	ORPHA:2131
HP:0020219	Motor seizure	477	ATP1A2	ORPHA:569
HP:0020219	Motor seizure	477	ATP1A2	OMIM:602481
HP:0020219	Motor seizure	686	BTD	ORPHA:79241
HP:0020219	Motor seizure	3786	KCNQ3	ORPHA:306
HP:0020219	Motor seizure	25814	ATXN10	ORPHA:98761
HP:0020219	Motor seizure	4695	NDUFA2	OMIM:618235
HP:0020219	Motor seizure	25930	PTPN23	OMIM:618890
HP:0020219	Motor seizure	55780	ERMARD	OMIM:615544
HP:0020219	Motor seizure	1806	DPYD	ORPHA:1675
HP:0020219	Motor seizure	27133	KCNH5	OMIM:620537
HP:0020219	Motor seizure	7532	YWHAG	OMIM:617665
HP:0020219	Motor seizure	137682	NDUFAF6	OMIM:618239
HP:0020219	Motor seizure	56246	MRAP	OMIM:607398
HP:0020219	Motor seizure	2137	EXTL3	ORPHA:508533
HP:0020219	Motor seizure	57531	HACE1	ORPHA:464282
HP:0020219	Motor seizure	8943	AP3D1	OMIM:617050
HP:0020219	Motor seizure	6389	SDHA	ORPHA:3208
HP:0020219	Motor seizure	6390	SDHB	ORPHA:3208
HP:0020219	Motor seizure	6392	SDHD	ORPHA:3208
HP:0020219	Motor seizure	644096	SDHAF1	ORPHA:3208
HP:0020219	Motor seizure	6304	SATB1	OMIM:619229
HP:0020219	Motor seizure	29920	PYCR2	ORPHA:481152
HP:0020219	Motor seizure	5428	POLG	OMIM:203700
HP:0020219	Motor seizure	5457	POU4F1	ORPHA:314647
HP:0020219	Motor seizure	23261	CAMTA1	ORPHA:314647
HP:0020219	Motor seizure	2892	GRIA3	OMIM:300699
HP:0020219	Motor seizure	2019	EN1	OMIM:619218
HP:0020219	Motor seizure	56270	WDR45B	OMIM:617977
HP:0020219	Motor seizure	197322	ACSF3	ORPHA:289504
HP:0020219	Motor seizure	197322	ACSF3	OMIM:614265
HP:0020219	Motor seizure	8818	DPM2	ORPHA:329178
HP:0020219	Motor seizure	9969	MED13	OMIM:618009
HP:0020219	Motor seizure	1137	CHRNA4	ORPHA:98784
HP:0020219	Motor seizure	1135	CHRNA2	ORPHA:98784
HP:0020219	Motor seizure	57010	CABP4	ORPHA:98784
HP:0020219	Motor seizure	1141	CHRNB2	ORPHA:98784
HP:0020219	Motor seizure	1392	CRH	ORPHA:98784
HP:0020219	Motor seizure	2639	GCDH	ORPHA:25
HP:0020219	Motor seizure	199857	ALG14	OMIM:619031
HP:0020219	Motor seizure	8243	SMC1A	OMIM:301044
HP:0020219	Motor seizure	8243	SMC1A	ORPHA:3095
HP:0020219	Motor seizure	79876	UBA5	OMIM:617132
HP:0020219	Motor seizure	10617	STAMBP	OMIM:614261
HP:0020219	Motor seizure	26235	FBXL4	OMIM:615471
HP:0020219	Motor seizure	9759	HDAC4	OMIM:619797
HP:0020219	Motor seizure	92335	STRADA	ORPHA:500533
HP:0020219	Motor seizure	51807	TUBA8	ORPHA:250972
HP:0020219	Motor seizure	4076	CAPRIN1	OMIM:620782
HP:0020219	Motor seizure	22845	DOLK	ORPHA:91131
HP:0020219	Motor seizure	4535	MT-ND1	ORPHA:255210
HP:0020219	Motor seizure	4536	MT-ND2	ORPHA:255210
HP:0020219	Motor seizure	4537	MT-ND3	ORPHA:255210
HP:0020219	Motor seizure	4538	MT-ND4	ORPHA:255210
HP:0020219	Motor seizure	4567	MT-TL1	ORPHA:255210
HP:0020219	Motor seizure	4578	MT-TW	ORPHA:255210
HP:0020219	Motor seizure	4577	MT-TV	ORPHA:255210
HP:0020219	Motor seizure	4540	MT-ND5	ORPHA:255210
HP:0020219	Motor seizure	4541	MT-ND6	ORPHA:255210
HP:0020219	Motor seizure	4566	MT-TK	ORPHA:255210
HP:0020219	Motor seizure	51412	ACTL6B	OMIM:618470
HP:0020219	Motor seizure	22854	NTNG1	ORPHA:3095
HP:0020219	Motor seizure	26275	HIBCH	ORPHA:88639
HP:0020219	Motor seizure	23030	KDM4B	OMIM:619320
HP:0020219	Motor seizure	7280	TUBB2A	OMIM:615763
HP:0020219	Motor seizure	23097	CDK19	OMIM:618916
HP:0020219	Motor seizure	2192	FBLN1	ORPHA:404451
HP:0020219	Motor seizure	161725	OTUD7A	OMIM:620790
HP:0020219	Motor seizure	347733	TUBB2B	ORPHA:467166
HP:0020219	Motor seizure	347733	TUBB2B	OMIM:610031
HP:0020219	Motor seizure	7846	TUBA1A	ORPHA:467166
HP:0020219	Motor seizure	7846	TUBA1A	ORPHA:171680
HP:0020219	Motor seizure	10381	TUBB3	ORPHA:467166
HP:0020219	Motor seizure	166378	AFG2A	ORPHA:457351
HP:0020219	Motor seizure	7283	TUBG1	OMIM:615412
HP:0020219	Motor seizure	9326	ZNHIT3	ORPHA:2836
HP:0020219	Motor seizure	3054	HCFC1	OMIM:309541
HP:0020219	Motor seizure	1183	CLCN4	ORPHA:485350
HP:0020219	Motor seizure	9361	LONP1	ORPHA:79243
HP:0020219	Motor seizure	5160	PDHA1	ORPHA:79243
HP:0020219	Motor seizure	1000	CDH2	OMIM:618929
HP:0020219	Motor seizure	128989	TANGO2	ORPHA:480864
HP:0020219	Motor seizure	8131	NPRL3	ORPHA:98820
HP:0020219	Motor seizure	10641	NPRL2	ORPHA:98820
HP:0020219	Motor seizure	9681	DEPDC5	ORPHA:98820
HP:0020219	Motor seizure	9681	DEPDC5	OMIM:620504
HP:0020219	Motor seizure	23327	NEDD4L	OMIM:617201
HP:0020219	Motor seizure	84896	ATAD1	OMIM:618011
HP:0020219	Motor seizure	1641	DCX	ORPHA:2148
HP:0020219	Motor seizure	284184	NDUFAF8	OMIM:618776
HP:0020219	Motor seizure	490	ATP2B1	OMIM:619910
HP:0020219	Motor seizure	2073	ERCC5	OMIM:278780
HP:0020219	Motor seizure	3098	HK1	OMIM:618547
HP:0020219	Motor seizure	5297	PI4KA	ORPHA:98889
HP:0020219	Motor seizure	27286	SRPX2	ORPHA:98889
HP:0020219	Motor seizure	80036	TRPM3	OMIM:620224
HP:0020219	Motor seizure	4247	MGAT2	ORPHA:79329
HP:0020219	Motor seizure	253959	RALGAPA1	OMIM:618797
HP:0020219	Motor seizure	5594	MAPK1	OMIM:619087
HP:0020219	Motor seizure	283989	TSEN54	ORPHA:2524
HP:0020219	Motor seizure	116461	TSEN15	ORPHA:2524
HP:0020219	Motor seizure	79042	TSEN34	ORPHA:2524
HP:0020219	Motor seizure	51091	SEPSECS	ORPHA:2524
HP:0020219	Motor seizure	60558	GUF1	ORPHA:3451
HP:0020219	Motor seizure	11152	WDR45	ORPHA:3451
HP:0020219	Motor seizure	4915	NTRK2	ORPHA:3451
HP:0020219	Motor seizure	55739	NAXD	OMIM:618321
HP:0020219	Motor seizure	25974	MMACHC	ORPHA:79282
HP:0020219	Motor seizure	6509	SLC1A4	ORPHA:447997
HP:0020219	Motor seizure	2776	GNAQ	ORPHA:3205
HP:0020219	Motor seizure	2801	GOLGA2	OMIM:620240
HP:0020219	Motor seizure	80704	SLC19A3	ORPHA:263410
HP:0020219	Motor seizure	1468	SLC25A10	OMIM:618972
HP:0020219	Motor seizure	57647	DHX37	OMIM:618731
HP:0020219	Motor seizure	8803	SUCLA2	OMIM:612073
HP:0020219	Motor seizure	8449	DHX16	OMIM:618733
HP:0020219	Motor seizure	55753	OGDHL	OMIM:619701
HP:0020219	Motor seizure	11342	RNF13	ORPHA:544503
HP:0020219	Motor seizure	3798	KIF5A	OMIM:617235
HP:0020219	Motor seizure	440	ASNS	OMIM:615574
HP:0020219	Motor seizure	6711	SPTBN1	OMIM:619475
HP:0020219	Motor seizure	23241	PACS2	OMIM:618067
HP:0020219	Motor seizure	6328	SCN3A	OMIM:617935
HP:0020219	Motor seizure	6050	RNH1	OMIM:620461
HP:0020219	Motor seizure	162417	NAGS	OMIM:237310
HP:0020219	Motor seizure	23258	DENND5A	OMIM:617281
HP:0020219	Motor seizure	3800	KIF5C	OMIM:615282
HP:0020219	Motor seizure	523	ATP6V1A	OMIM:618012
HP:0020219	Motor seizure	27010	TPK1	OMIM:614458
HP:0020219	Motor seizure	2891	GRIA2	OMIM:618917
HP:0020219	Motor seizure	63908	NAPB	OMIM:620033
HP:0020219	Motor seizure	5660	PSAP	OMIM:610539
HP:0020219	Motor seizure	1353	COX11	OMIM:620275
HP:0020219	Motor seizure	7337	UBE3A	ORPHA:98795
HP:0020219	Motor seizure	23126	POGZ	OMIM:616364
HP:0020219	Motor seizure	57282	SLC4A10	OMIM:620746
HP:0020219	Motor seizure	51075	TMX2	OMIM:618730
HP:0020219	Motor seizure	84274	COQ5	OMIM:619028
HP:0020219	Motor seizure	5833	PCYT2	OMIM:618770
HP:0020219	Motor seizure	3658	IREB2	OMIM:618451
HP:0020219	Motor seizure	83479	DDX59	OMIM:174300
HP:0020219	Motor seizure	1182	CLCN3	OMIM:619512
HP:0020219	Motor seizure	1182	CLCN3	OMIM:619517
HP:0020219	Motor seizure	23334	SZT2	OMIM:615476
HP:0020219	Motor seizure	23394	ADNP	OMIM:615873
HP:0020219	Motor seizure	775	CACNA1C	OMIM:620029
HP:0020219	Motor seizure	83548	COG3	OMIM:620546
HP:0020219	Motor seizure	8452	CUL3	OMIM:619239
HP:0020219	Motor seizure	55325	UFSP2	OMIM:620028
HP:0020219	Motor seizure	728294	D2HGDH	OMIM:600721
HP:0020219	Motor seizure	1062	CENPE	OMIM:616051
HP:0020219	Motor seizure	10991	SLC38A3	OMIM:619881
HP:0020219	Motor seizure	84197	POMK	OMIM:615249
HP:0020219	Motor seizure	2558	GABRA5	OMIM:618559
HP:0020219	Motor seizure	9568	GABBR2	OMIM:617904
HP:0020219	Motor seizure	10430	TMEM147	OMIM:620075
HP:0020219	Motor seizure	8242	KDM5C	OMIM:300534
HP:0020219	Motor seizure	112939	NACC1	OMIM:617393
HP:0020219	Motor seizure	284098	PIGW	OMIM:616025
HP:0020219	Motor seizure	23229	ARHGEF9	OMIM:300607
HP:0020219	Motor seizure	55275	VPS53	OMIM:615851
HP:0020219	Motor seizure	23219	FBXO28	OMIM:619777
HP:0020219	Motor seizure	80746	TSEN2	OMIM:612389
HP:0020219	Motor seizure	51294	PCDH12	OMIM:251280
HP:0020219	Motor seizure	8604	SLC25A12	OMIM:612949
HP:0020219	Motor seizure	4204	MECP2	OMIM:300260
HP:0020219	Motor seizure	80856	LNPK	OMIM:618090
HP:0020219	Motor seizure	283987	HID1	OMIM:619983
HP:0020219	Motor seizure	58472	SQOR	OMIM:619221
HP:0020219	Motor seizure	2752	GLUL	OMIM:620806
HP:0020219	Motor seizure	2257	FGF12	OMIM:617166
HP:0020219	Motor seizure	56479	KCNQ5	OMIM:617601
HP:0020219	Motor seizure	9900	SV2A	OMIM:620772
HP:0020219	Motor seizure	26960	NBEA	OMIM:619157
HP:0020219	Motor seizure	4723	NDUFV1	OMIM:618225
HP:0020219	Motor seizure	776	CACNA1D	OMIM:615474
HP:0020219	Motor seizure	114327	EFHC1	OMIM:254770
HP:0020219	Motor seizure	114327	EFHC1	ORPHA:1941
HP:0020219	Motor seizure	2653	GCSH	OMIM:620423
HP:0020219	Motor seizure	81570	CLPB	OMIM:619835
HP:0020219	Motor seizure	10667	FARS2	OMIM:614946
HP:0020219	Motor seizure	3778	KCNMA1	OMIM:618596
HP:0020219	Motor seizure	3778	KCNMA1	OMIM:617643
HP:0020219	Motor seizure	3074	HEXB	OMIM:268800
HP:0020219	Motor seizure	3074	HEXB	ORPHA:309155
HP:0020219	Motor seizure	51506	UFC1	OMIM:618076
HP:0020219	Motor seizure	84816	RTN4IP1	OMIM:616732
HP:0020219	Motor seizure	16	AARS1	OMIM:616339
HP:0020219	Motor seizure	55152	DALRD3	OMIM:618910
HP:0020219	Motor seizure	154881	KCTD7	OMIM:611726
HP:0020219	Motor seizure	23499	MACF1	ORPHA:572013
HP:0020219	Motor seizure	23499	MACF1	OMIM:618325
HP:0020219	Motor seizure	5934	RBL2	OMIM:619690
HP:0020219	Motor seizure	56915	EXOSC5	OMIM:619576
HP:0020219	Motor seizure	4509	MT-ATP8	ORPHA:254913
HP:0020219	Motor seizure	514	ATP5F1E	ORPHA:254913
HP:0020219	Motor seizure	513	ATP5F1D	ORPHA:254913
HP:0020219	Motor seizure	498	ATP5F1A	ORPHA:254913
HP:0020219	Motor seizure	4508	MT-ATP6	ORPHA:254913
HP:0020219	Motor seizure	84833	ATP5MK	ORPHA:254913
HP:0020219	Motor seizure	91647	ATPAF2	ORPHA:254913
HP:0020219	Motor seizure	25915	NDUFAF3	OMIM:618240
HP:0020219	Motor seizure	79641	ROGDI	OMIM:226750
HP:0020219	Motor seizure	3746	KCNC1	OMIM:616187
HP:0020219	Motor seizure	79029	AFG2B	OMIM:619616
HP:0020219	Motor seizure	116150	NUS1	OMIM:617831
HP:0020219	Motor seizure	27315	PGAP2	OMIM:614207
HP:0020219	Motor seizure	400569	MED11	OMIM:620327
HP:0020219	Motor seizure	1509	CTSD	OMIM:610127
HP:0020219	Motor seizure	815	CAMK2A	OMIM:618095
HP:0020219	Motor seizure	23152	CIC	OMIM:617600
HP:0020219	Motor seizure	64864	RFX7	OMIM:620330
HP:0020219	Motor seizure	23265	EXOC7	OMIM:619072
HP:0020219	Motor seizure	3737	KCNA2	OMIM:616366
HP:0020219	Motor seizure	149371	EXOC8	OMIM:619076
HP:0020219	Motor seizure	51604	PIGT	OMIM:615398
HP:0020219	Motor seizure	22931	RAB18	OMIM:614222
HP:0020219	Motor seizure	4762	NEUROG1	OMIM:620469
HP:0020219	Motor seizure	93210	PGAP3	OMIM:615716
HP:0020219	Motor seizure	80781	COL18A1	OMIM:267750
HP:0020219	Motor seizure	51611	DPH5	OMIM:620070
HP:0020219	Motor seizure	10021	HCN4	OMIM:619521
HP:0020219	Motor seizure	128240	NAXE	OMIM:617186
HP:0020219	Motor seizure	51124	IER3IP1	OMIM:614231
HP:0020219	Motor seizure	23067	SETD1B	OMIM:619000
HP:0020219	Motor seizure	10297	APC2	OMIM:618677
HP:0020219	Motor seizure	4677	NARS1	OMIM:619091
HP:0020219	Motor seizure	4677	NARS1	OMIM:619092
HP:0020219	Motor seizure	125988	MICOS13	OMIM:618329
HP:0020219	Motor seizure	9487	PIGL	OMIM:280000
HP:0020219	Motor seizure	1107	CHD3	OMIM:618205
HP:0020219	Motor seizure	129285	PPP1R21	OMIM:619383
HP:0020219	Motor seizure	80331	DNAJC5	OMIM:162350
HP:0020219	Motor seizure	51645	PPIL1	OMIM:619301
HP:0020219	Motor seizure	7040	TGFB1	OMIM:618213
HP:0020219	Motor seizure	51362	CDC40	OMIM:619302
HP:0020219	Motor seizure	3832	KIF11	OMIM:152950
HP:0020219	Motor seizure	1460	CSNK2B	OMIM:618732
HP:0020219	Motor seizure	3767	KCNJ11	OMIM:618856
HP:0020219	Motor seizure	2760	GM2A	OMIM:272750
HP:0020219	Motor seizure	781	CACNA2D1	OMIM:620149
HP:0020219	Motor seizure	10319	LAMC3	OMIM:614115
HP:0020214	Startle-induced seizure	347733	TUBB2B	ORPHA:467166
HP:0020214	Startle-induced seizure	7846	TUBA1A	ORPHA:467166
HP:0020214	Startle-induced seizure	10381	TUBB3	ORPHA:467166
HP:0020217	Focal aware motor seizure	27133	KCNH5	OMIM:620537
HP:0020217	Focal aware motor seizure	501	ALDH7A1	ORPHA:3006
HP:0020217	Focal aware motor seizure	11212	PLPBP	ORPHA:3006
HP:0020216	Visually-induced seizure	154881	KCTD7	ORPHA:263516
HP:0020216	Visually-induced seizure	6335	SCN9A	ORPHA:33069
HP:0020216	Visually-induced seizure	6326	SCN2A	ORPHA:33069
HP:0020216	Visually-induced seizure	2554	GABRA1	ORPHA:33069
HP:0020216	Visually-induced seizure	6324	SCN1B	ORPHA:33069
HP:0020216	Visually-induced seizure	57526	PCDH19	ORPHA:33069
HP:0020216	Visually-induced seizure	2566	GABRG2	ORPHA:33069
HP:0020216	Visually-induced seizure	10479	SLC9A6	OMIM:300243
HP:0020216	Visually-induced seizure	114327	EFHC1	ORPHA:307
HP:0020216	Visually-induced seizure	2563	GABRD	ORPHA:307
HP:0020216	Visually-induced seizure	1181	CLCN2	ORPHA:307
HP:0020216	Visually-induced seizure	3786	KCNQ3	ORPHA:307
HP:0020216	Visually-induced seizure	22858	CILK1	ORPHA:307
HP:0020216	Visually-induced seizure	8629	JRK	ORPHA:307
HP:0020216	Visually-induced seizure	785	CACNB4	ORPHA:307
HP:0020216	Visually-induced seizure	1106	CHD2	OMIM:615369
HP:0020216	Visually-induced seizure	6323	SCN1A	OMIM:607208
HP:0020216	Visually-induced seizure	57094	CPA6	OMIM:614417
HP:0002655	Spondyloepiphyseal dysplasia	1280	COL2A1	OMIM:271700
HP:0002655	Spondyloepiphyseal dysplasia	1280	COL2A1	OMIM:616583
HP:0002655	Spondyloepiphyseal dysplasia	1280	COL2A1	OMIM:108300
HP:0002655	Spondyloepiphyseal dysplasia	1280	COL2A1	OMIM:183900
HP:0002655	Spondyloepiphyseal dysplasia	176	ACAN	ORPHA:93283
HP:0002655	Spondyloepiphyseal dysplasia	176	ACAN	OMIM:608361
HP:0002655	Spondyloepiphyseal dysplasia	6134	RPL10	OMIM:300998
HP:0002655	Spondyloepiphyseal dysplasia	6134	RPL10	ORPHA:459070
HP:0002655	Spondyloepiphyseal dysplasia	59341	TRPV4	OMIM:184095
HP:0002655	Spondyloepiphyseal dysplasia	9469	CHST3	OMIM:143095
HP:0002655	Spondyloepiphyseal dysplasia	55699	IARS2	ORPHA:436174
HP:0002655	Spondyloepiphyseal dysplasia	100151683	RNU4ATAC	ORPHA:353298
HP:0002655	Spondyloepiphyseal dysplasia	100151683	RNU4ATAC	OMIM:616651
HP:0002655	Spondyloepiphyseal dysplasia	64802	NMNAT1	OMIM:619260
HP:0002655	Spondyloepiphyseal dysplasia	8720	MBTPS1	OMIM:618392
HP:0002655	Spondyloepiphyseal dysplasia	1301	COL11A1	OMIM:604841
HP:0002655	Spondyloepiphyseal dysplasia	50485	SMARCAL1	ORPHA:1830
HP:0002655	Spondyloepiphyseal dysplasia	50485	SMARCAL1	OMIM:242900
HP:0002655	Spondyloepiphyseal dysplasia	8838	CCN6	ORPHA:1159
HP:0002655	Spondyloepiphyseal dysplasia	6399	TRAPPC2	OMIM:313400
HP:0005895	Radial deviation of thumb terminal phalanx	2033	EP300	OMIM:180849
HP:0005895	Radial deviation of thumb terminal phalanx	1387	CREBBP	OMIM:180849
HP:0005895	Radial deviation of thumb terminal phalanx	2735	GLI1	OMIM:174400
HP:0003025	Metaphyseal irregularity	1280	COL2A1	OMIM:184255
HP:0003025	Metaphyseal irregularity	1280	COL2A1	OMIM:151210
HP:0003025	Metaphyseal irregularity	1280	COL2A1	OMIM:184250
HP:0003025	Metaphyseal irregularity	1280	COL2A1	ORPHA:93315
HP:0003025	Metaphyseal irregularity	2335	FN1	OMIM:184255
HP:0003025	Metaphyseal irregularity	2335	FN1	ORPHA:93315
HP:0003025	Metaphyseal irregularity	1311	COMP	ORPHA:750
HP:0003025	Metaphyseal irregularity	1311	COMP	OMIM:177170
HP:0003025	Metaphyseal irregularity	2261	FGFR3	OMIM:187601
HP:0003025	Metaphyseal irregularity	2261	FGFR3	OMIM:187600
HP:0003025	Metaphyseal irregularity	3835	KIF22	ORPHA:93360
HP:0003025	Metaphyseal irregularity	3835	KIF22	OMIM:603546
HP:0003025	Metaphyseal irregularity	54808	DYM	OMIM:607326
HP:0003025	Metaphyseal irregularity	65992	DDRGK1	OMIM:602557
HP:0003025	Metaphyseal irregularity	65992	DDRGK1	ORPHA:93352
HP:0003025	Metaphyseal irregularity	1300	COL10A1	OMIM:156500
HP:0003025	Metaphyseal irregularity	1300	COL10A1	ORPHA:174
HP:0003025	Metaphyseal irregularity	1184	CLCN5	OMIM:300554
HP:0003025	Metaphyseal irregularity	1184	CLCN5	OMIM:300009
HP:0003025	Metaphyseal irregularity	142680	SLC34A3	OMIM:241530
HP:0003025	Metaphyseal irregularity	579	NKX3-2	OMIM:613330
HP:0003025	Metaphyseal irregularity	55699	IARS2	OMIM:616007
HP:0003025	Metaphyseal irregularity	10973	ASCC3	OMIM:620700
HP:0003025	Metaphyseal irregularity	5593	PRKG2	OMIM:619636
HP:0003025	Metaphyseal irregularity	4796	TONSL	ORPHA:93357
HP:0003025	Metaphyseal irregularity	4796	TONSL	OMIM:271510
HP:0003025	Metaphyseal irregularity	4322	MMP13	ORPHA:93356
HP:0003025	Metaphyseal irregularity	411	ARSB	OMIM:253200
HP:0003025	Metaphyseal irregularity	59341	TRPV4	OMIM:156530
HP:0003025	Metaphyseal irregularity	5130	PCYT1A	ORPHA:85167
HP:0003025	Metaphyseal irregularity	5130	PCYT1A	OMIM:608940
HP:0003025	Metaphyseal irregularity	54870	QRICH1	OMIM:617982
HP:0003025	Metaphyseal irregularity	23233	EXOC6B	OMIM:618395
HP:0003025	Metaphyseal irregularity	79631	EFL1	OMIM:617941
HP:0003025	Metaphyseal irregularity	79631	EFL1	ORPHA:811
HP:0003025	Metaphyseal irregularity	120227	CYP2R1	OMIM:600081
HP:0003025	Metaphyseal irregularity	23169	SLC35D1	OMIM:269250
HP:0003025	Metaphyseal irregularity	134218	DNAJC21	ORPHA:811
HP:0003025	Metaphyseal irregularity	51119	SBDS	ORPHA:811
HP:0003025	Metaphyseal irregularity	4148	MATN3	OMIM:607078
HP:0003025	Metaphyseal irregularity	4750	NEK1	OMIM:252100
HP:0003025	Metaphyseal irregularity	3417	IDH1	ORPHA:99646
HP:0003025	Metaphyseal irregularity	5251	PHEX	OMIM:307800
HP:0003025	Metaphyseal irregularity	23387	SIK3	OMIM:618162
HP:0003025	Metaphyseal irregularity	9663	LPIN2	ORPHA:77297
HP:0003025	Metaphyseal irregularity	54	ACP5	OMIM:607944
HP:0003025	Metaphyseal irregularity	4318	MMP9	OMIM:613073
HP:0003025	Metaphyseal irregularity	26503	SLC17A5	OMIM:269920
HP:0003025	Metaphyseal irregularity	54187	NANS	OMIM:610442
HP:0003025	Metaphyseal irregularity	5745	PTH1R	ORPHA:79106
HP:0003025	Metaphyseal irregularity	633	BGN	OMIM:300106
HP:0003025	Metaphyseal irregularity	1594	CYP27B1	OMIM:264700
HP:0003025	Metaphyseal irregularity	83452	RAB33B	OMIM:615222
HP:0003025	Metaphyseal irregularity	7421	VDR	OMIM:277440
HP:0003025	Metaphyseal irregularity	3930	LBR	OMIM:618019
HP:0003025	Metaphyseal irregularity	5830	PEX5	OMIM:616716
HP:0003025	Metaphyseal irregularity	846	CASR	OMIM:239200
HP:0003025	Metaphyseal irregularity	6023	RMRP	OMIM:250460
HP:0003025	Metaphyseal irregularity	2879	GPX4	OMIM:250220
HP:0003025	Metaphyseal irregularity	79848	CSPP1	ORPHA:397715
HP:0003025	Metaphyseal irregularity	9786	KIAA0586	ORPHA:397715
HP:0003025	Metaphyseal irregularity	755	CFAP410	OMIM:602271
HP:0003025	Metaphyseal irregularity	6729	SRP54	OMIM:260400
HP:0003025	Metaphyseal irregularity	6137	RPL13	OMIM:618728
HP:0003025	Metaphyseal irregularity	89970	RSPRY1	ORPHA:457395
HP:0010034	Short 1st metacarpal	2535	FZD2	OMIM:164745
HP:0010034	Short 1st metacarpal	2535	FZD2	ORPHA:93328
HP:0010034	Short 1st metacarpal	23476	BRD4	ORPHA:199
HP:0010034	Short 1st metacarpal	23476	BRD4	OMIM:620568
HP:0010034	Short 1st metacarpal	9126	SMC3	ORPHA:199
HP:0010034	Short 1st metacarpal	8243	SMC1A	ORPHA:199
HP:0010034	Short 1st metacarpal	6878	TAF6	ORPHA:199
HP:0010034	Short 1st metacarpal	25836	NIPBL	ORPHA:199
HP:0010034	Short 1st metacarpal	55869	HDAC8	ORPHA:199
HP:0010034	Short 1st metacarpal	5885	RAD21	ORPHA:199
HP:0010034	Short 1st metacarpal	90	ACVR1	OMIM:135100
HP:0010034	Short 1st metacarpal	57020	VPS35L	OMIM:619135
HP:0010034	Short 1st metacarpal	10262	SF3B4	OMIM:154400
HP:0010034	Short 1st metacarpal	8200	GDF5	OMIM:615072
HP:0010034	Short 1st metacarpal	8200	GDF5	ORPHA:63442
HP:0010034	Short 1st metacarpal	8200	GDF5	OMIM:113100
HP:0010034	Short 1st metacarpal	9241	NOG	OMIM:186570
HP:0010034	Short 1st metacarpal	9241	NOG	OMIM:611377
HP:0010034	Short 1st metacarpal	57167	SALL4	OMIM:147750
HP:0010034	Short 1st metacarpal	6091	ROBO1	OMIM:620305
HP:0010034	Short 1st metacarpal	3209	HOXA13	OMIM:140000
HP:0010034	Short 1st metacarpal	3209	HOXA13	ORPHA:2438
HP:0010034	Short 1st metacarpal	658	BMPR1B	OMIM:609441
HP:0010034	Short 1st metacarpal	6910	TBX5	OMIM:142900
HP:0010034	Short 1st metacarpal	10847	SRCAP	OMIM:136140
HP:0010034	Short 1st metacarpal	55215	FANCI	OMIM:609053
HP:0010034	Short 1st metacarpal	6662	SOX9	OMIM:114290
HP:0010034	Short 1st metacarpal	5116	PCNT	OMIM:210720
HP:0010034	Short 1st metacarpal	26040	SETBP1	OMIM:269150
HP:0010034	Short 1st metacarpal	26040	SETBP1	ORPHA:798
HP:0010034	Short 1st metacarpal	388015	RTL1	ORPHA:96334
HP:0010034	Short 1st metacarpal	8788	DLK1	ORPHA:96334
HP:0010034	Short 1st metacarpal	55384	MEG3	ORPHA:96334
HP:0010034	Short 1st metacarpal	3911	LAMA5	OMIM:620076
HP:0010034	Short 1st metacarpal	124583	CANT1	OMIM:251450
HP:0005892	Proximal tibial and fibular fusion	2737	GLI3	ORPHA:93322
HP:0005892	Proximal tibial and fibular fusion	5447	POR	ORPHA:95699
HP:0005890	Hyperostosis cranialis interna	23516	SLC39A14	OMIM:144755
HP:0005890	Hyperostosis cranialis interna	6916	TBXAS1	OMIM:231095
HP:0041042	Absent neutrophil lactoferrin	1053	CEBPE	OMIM:245480
HP:0002640	Hypertension associated with pheochromocytoma	7428	VHL	ORPHA:29072
HP:0002640	Hypertension associated with pheochromocytoma	7428	VHL	ORPHA:276621
HP:0002640	Hypertension associated with pheochromocytoma	1743	DLST	ORPHA:29072
HP:0002640	Hypertension associated with pheochromocytoma	4191	MDH2	ORPHA:29072
HP:0002640	Hypertension associated with pheochromocytoma	5979	RET	ORPHA:29072
HP:0002640	Hypertension associated with pheochromocytoma	5979	RET	ORPHA:276621
HP:0002640	Hypertension associated with pheochromocytoma	6389	SDHA	ORPHA:29072
HP:0002640	Hypertension associated with pheochromocytoma	23095	KIF1B	ORPHA:29072
HP:0002640	Hypertension associated with pheochromocytoma	2271	FH	ORPHA:29072
HP:0002640	Hypertension associated with pheochromocytoma	8402	SLC25A11	ORPHA:29072
HP:0002640	Hypertension associated with pheochromocytoma	54949	SDHAF2	ORPHA:29072
HP:0002640	Hypertension associated with pheochromocytoma	55654	TMEM127	ORPHA:29072
HP:0002640	Hypertension associated with pheochromocytoma	4763	NF1	ORPHA:29072
HP:0002640	Hypertension associated with pheochromocytoma	6391	SDHC	ORPHA:29072
HP:0002640	Hypertension associated with pheochromocytoma	6391	SDHC	OMIM:605373
HP:0002640	Hypertension associated with pheochromocytoma	6392	SDHD	ORPHA:29072
HP:0002640	Hypertension associated with pheochromocytoma	6392	SDHD	OMIM:168000
HP:0002640	Hypertension associated with pheochromocytoma	6392	SDHD	ORPHA:276621
HP:0002640	Hypertension associated with pheochromocytoma	6390	SDHB	ORPHA:29072
HP:0002640	Hypertension associated with pheochromocytoma	6390	SDHB	ORPHA:276621
HP:0002640	Hypertension associated with pheochromocytoma	6390	SDHB	OMIM:115310
HP:0002640	Hypertension associated with pheochromocytoma	4149	MAX	ORPHA:29072
HP:0002640	Hypertension associated with pheochromocytoma	1788	DNMT3A	ORPHA:276621
HP:0002640	Hypertension associated with pheochromocytoma	2034	EPAS1	ORPHA:276621
HP:0002641	Peripheral thrombosis	10019	SH2B3	OMIM:133100
HP:0002641	Peripheral thrombosis	3717	JAK2	OMIM:133100
HP:0002641	Peripheral thrombosis	2057	EPOR	OMIM:133100
HP:0002641	Peripheral thrombosis	7428	VHL	OMIM:263400
HP:0002642	Arteriovenous fistulas of celiac and mesenteric vessels	2022	ENG	OMIM:187300
HP:0002642	Arteriovenous fistulas of celiac and mesenteric vessels	1281	COL3A1	ORPHA:286
HP:0002643	Neonatal respiratory distress	374407	DNAJB13	OMIM:617091
HP:0002643	Neonatal respiratory distress	374407	DNAJB13	ORPHA:244
HP:0002643	Neonatal respiratory distress	139212	DNAAF6	OMIM:300991
HP:0002643	Neonatal respiratory distress	139212	DNAAF6	ORPHA:244
HP:0002643	Neonatal respiratory distress	85016	CFAP300	OMIM:618063
HP:0002643	Neonatal respiratory distress	85016	CFAP300	ORPHA:244
HP:0002643	Neonatal respiratory distress	2261	FGFR3	OMIM:187600
HP:0002643	Neonatal respiratory distress	2294	FOXF1	OMIM:265380
HP:0002643	Neonatal respiratory distress	5076	PAX2	ORPHA:97362
HP:0002643	Neonatal respiratory distress	5087	PBX1	ORPHA:97362
HP:0002643	Neonatal respiratory distress	83538	ODAD4	OMIM:617092
HP:0002643	Neonatal respiratory distress	83538	ODAD4	ORPHA:244
HP:0002643	Neonatal respiratory distress	199857	ALG14	OMIM:619036
HP:0002643	Neonatal respiratory distress	5913	RAPSN	OMIM:616326
HP:0002643	Neonatal respiratory distress	10059	DNM1L	OMIM:614388
HP:0002643	Neonatal respiratory distress	29926	GMPPA	OMIM:615510
HP:0002643	Neonatal respiratory distress	55627	SMPD4	OMIM:618622
HP:0002643	Neonatal respiratory distress	23417	MLYCD	OMIM:248360
HP:0002643	Neonatal respiratory distress	8854	ALDH1A2	OMIM:620025
HP:0002643	Neonatal respiratory distress	345895	RSPH4A	OMIM:612649
HP:0002643	Neonatal respiratory distress	345895	RSPH4A	ORPHA:244
HP:0002643	Neonatal respiratory distress	2200	FBN1	ORPHA:284979
HP:0002643	Neonatal respiratory distress	501	ALDH7A1	OMIM:266100
HP:0002643	Neonatal respiratory distress	501	ALDH7A1	ORPHA:3006
HP:0002643	Neonatal respiratory distress	54768	HYDIN	OMIM:608647
HP:0002643	Neonatal respiratory distress	54768	HYDIN	ORPHA:244
HP:0002643	Neonatal respiratory distress	89765	RSPH1	OMIM:615481
HP:0002643	Neonatal respiratory distress	89765	RSPH1	ORPHA:244
HP:0002643	Neonatal respiratory distress	161582	DNAAF4	OMIM:615482
HP:0002643	Neonatal respiratory distress	161582	DNAAF4	ORPHA:244
HP:0002643	Neonatal respiratory distress	23114	NFASC	OMIM:618356
HP:0002643	Neonatal respiratory distress	6729	SRP54	OMIM:260400
HP:0002643	Neonatal respiratory distress	51119	SBDS	OMIM:260400
HP:0002643	Neonatal respiratory distress	134218	DNAJC21	OMIM:260400
HP:0002643	Neonatal respiratory distress	89910	UBE3B	OMIM:244450
HP:0002643	Neonatal respiratory distress	6616	SNAP25	OMIM:616330
HP:0002643	Neonatal respiratory distress	55790	CSGALNACT1	OMIM:618870
HP:0002643	Neonatal respiratory distress	221421	RSPH9	OMIM:612650
HP:0002643	Neonatal respiratory distress	221421	RSPH9	ORPHA:244
HP:0002643	Neonatal respiratory distress	6662	SOX9	OMIM:114290
HP:0002643	Neonatal respiratory distress	6662	SOX9	ORPHA:718
HP:0002643	Neonatal respiratory distress	9200	HACD1	OMIM:619967
HP:0002643	Neonatal respiratory distress	1767	DNAH5	OMIM:608644
HP:0002643	Neonatal respiratory distress	1767	DNAH5	ORPHA:244
HP:0002643	Neonatal respiratory distress	5189	PEX1	OMIM:214100
HP:0002643	Neonatal respiratory distress	4868	NPHS1	OMIM:256300
HP:0002643	Neonatal respiratory distress	6439	SFTPB	OMIM:265120
HP:0002643	Neonatal respiratory distress	6439	SFTPB	ORPHA:217563
HP:0002643	Neonatal respiratory distress	1146	CHRNG	OMIM:265000
HP:0002643	Neonatal respiratory distress	1146	CHRNG	ORPHA:2990
HP:0002643	Neonatal respiratory distress	84987	COX14	OMIM:619053
HP:0002643	Neonatal respiratory distress	55906	ZC4H2	OMIM:314580
HP:0002643	Neonatal respiratory distress	10999	SLC27A4	ORPHA:88621
HP:0002643	Neonatal respiratory distress	165	AEBP1	OMIM:618000
HP:0002643	Neonatal respiratory distress	55037	PTCD3	OMIM:619057
HP:0002643	Neonatal respiratory distress	7994	KAT6A	ORPHA:457193
HP:0002643	Neonatal respiratory distress	7994	KAT6A	OMIM:616268
HP:0002643	Neonatal respiratory distress	51008	ASCC1	OMIM:616867
HP:0002643	Neonatal respiratory distress	64131	XYLT1	OMIM:615777
HP:0002643	Neonatal respiratory distress	2917	GRM7	OMIM:618922
HP:0002643	Neonatal respiratory distress	9325	TRIP4	OMIM:616866
HP:0002643	Neonatal respiratory distress	9820	CUL7	OMIM:273750
HP:0002643	Neonatal respiratory distress	7490	WT1	OMIM:194080
HP:0002643	Neonatal respiratory distress	9361	LONP1	ORPHA:79243
HP:0002643	Neonatal respiratory distress	5160	PDHA1	ORPHA:79243
HP:0002643	Neonatal respiratory distress	21	ABCA3	OMIM:610921
HP:0002643	Neonatal respiratory distress	21	ABCA3	ORPHA:217563
HP:0002643	Neonatal respiratory distress	7080	NKX2-1	ORPHA:209905
HP:0002643	Neonatal respiratory distress	7080	NKX2-1	OMIM:610978
HP:0002643	Neonatal respiratory distress	11212	PLPBP	ORPHA:3006
HP:0002643	Neonatal respiratory distress	1339	COX6A2	OMIM:619062
HP:0002643	Neonatal respiratory distress	8802	SUCLG1	OMIM:245400
HP:0002643	Neonatal respiratory distress	860	RUNX2	OMIM:119600
HP:0002643	Neonatal respiratory distress	1760	DMPK	ORPHA:589821
HP:0002643	Neonatal respiratory distress	4905	NSF	OMIM:619340
HP:0002643	Neonatal respiratory distress	132158	GLYCTK	OMIM:220120
HP:0002643	Neonatal respiratory distress	5167	ENPP1	OMIM:208000
HP:0002643	Neonatal respiratory distress	5332	PLCB4	OMIM:620458
HP:0002643	Neonatal respiratory distress	2783	GNB2	OMIM:619503
HP:0002643	Neonatal respiratory distress	2752	GLUL	OMIM:610015
HP:0002643	Neonatal respiratory distress	55036	CCDC40	OMIM:613808
HP:0002643	Neonatal respiratory distress	55036	CCDC40	ORPHA:244
HP:0002643	Neonatal respiratory distress	339829	CCDC39	OMIM:613807
HP:0002643	Neonatal respiratory distress	339829	CCDC39	ORPHA:244
HP:0002643	Neonatal respiratory distress	6261	RYR1	ORPHA:597
HP:0002643	Neonatal respiratory distress	83861	RSPH3	OMIM:616481
HP:0002643	Neonatal respiratory distress	83861	RSPH3	ORPHA:244
HP:0002643	Neonatal respiratory distress	6628	SNRPB	OMIM:117650
HP:0002643	Neonatal respiratory distress	6628	SNRPB	ORPHA:1393
HP:0002643	Neonatal respiratory distress	9851	KIAA0753	OMIM:619479
HP:0002643	Neonatal respiratory distress	57061	HYMAI	ORPHA:96191
HP:0002643	Neonatal respiratory distress	5325	PLAGL1	ORPHA:96191
HP:0002643	Neonatal respiratory distress	4576	MT-TT	ORPHA:254857
HP:0002643	Neonatal respiratory distress	152110	NEK10	OMIM:618781
HP:0002643	Neonatal respiratory distress	152110	NEK10	ORPHA:244
HP:0002643	Neonatal respiratory distress	1861	TOR1A	OMIM:618947
HP:0002643	Neonatal respiratory distress	64446	DNAI2	OMIM:612444
HP:0002643	Neonatal respiratory distress	64446	DNAI2	ORPHA:244
HP:0002643	Neonatal respiratory distress	8021	NUP214	OMIM:618426
HP:0002643	Neonatal respiratory distress	3675	ITGA3	OMIM:614748
HP:0002643	Neonatal respiratory distress	4534	MTM1	OMIM:310400
HP:0002643	Neonatal respiratory distress	8405	SPOP	OMIM:618828
HP:0002643	Neonatal respiratory distress	5293	PIK3CD	ORPHA:221139
HP:0002643	Neonatal respiratory distress	90417	KNSTRN	ORPHA:221139
HP:0002643	Neonatal respiratory distress	415	ARSL	ORPHA:79345
HP:0002643	Neonatal respiratory distress	145258	GSC	OMIM:602471
HP:0002643	Neonatal respiratory distress	4716	NDUFB10	OMIM:619003
HP:0002643	Neonatal respiratory distress	8818	DPM2	OMIM:615042
HP:0002643	Neonatal respiratory distress	8567	MADD	OMIM:619004
HP:0002643	Neonatal respiratory distress	8567	MADD	OMIM:619005
HP:0002643	Neonatal respiratory distress	253959	RALGAPA1	OMIM:618797
HP:0002643	Neonatal respiratory distress	8481	OFD1	OMIM:300209
HP:0002643	Neonatal respiratory distress	8481	OFD1	ORPHA:244
HP:0002643	Neonatal respiratory distress	5205	ATP8B1	ORPHA:69665
HP:0002643	Neonatal respiratory distress	8647	ABCB11	ORPHA:69665
HP:0002643	Neonatal respiratory distress	5244	ABCB4	ORPHA:69665
HP:0002643	Neonatal respiratory distress	9971	NR1H4	ORPHA:69665
HP:0002643	Neonatal respiratory distress	1654	DDX3X	ORPHA:3338
HP:0002643	Neonatal respiratory distress	54919	DNAAF5	OMIM:614874
HP:0002643	Neonatal respiratory distress	54919	DNAAF5	ORPHA:244
HP:0002643	Neonatal respiratory distress	51364	ZMYND10	OMIM:615444
HP:0002643	Neonatal respiratory distress	51364	ZMYND10	ORPHA:244
HP:0002643	Neonatal respiratory distress	8292	COLQ	ORPHA:98915
HP:0002643	Neonatal respiratory distress	3913	LAMB2	ORPHA:98915
HP:0002643	Neonatal respiratory distress	124583	CANT1	OMIM:251450
HP:0002643	Neonatal respiratory distress	1376	CPT2	OMIM:608836
HP:0002643	Neonatal respiratory distress	1376	CPT2	ORPHA:228308
HP:0002643	Neonatal respiratory distress	10577	NPC2	OMIM:607625
HP:0002643	Neonatal respiratory distress	92749	DRC1	OMIM:615294
HP:0002643	Neonatal respiratory distress	92749	DRC1	ORPHA:244
HP:0002643	Neonatal respiratory distress	5331	PLCB3	OMIM:618961
HP:0002643	Neonatal respiratory distress	259232	NALCN	OMIM:616266
HP:0002643	Neonatal respiratory distress	84231	TRAF7	OMIM:618164
HP:0002643	Neonatal respiratory distress	5339	PLEC	OMIM:226670
HP:0002643	Neonatal respiratory distress	10463	SLC30A9	OMIM:617595
HP:0002643	Neonatal respiratory distress	55130	ODAD2	OMIM:615451
HP:0002643	Neonatal respiratory distress	55130	ODAD2	ORPHA:244
HP:0002643	Neonatal respiratory distress	4621	MYH3	ORPHA:2990
HP:0002643	Neonatal respiratory distress	25981	DNAH1	ORPHA:244
HP:0002643	Neonatal respiratory distress	115948	ODAD3	ORPHA:244
HP:0002643	Neonatal respiratory distress	352909	DNAAF3	ORPHA:244
HP:0002643	Neonatal respiratory distress	27148	STK36	ORPHA:244
HP:0002643	Neonatal respiratory distress	51314	NME8	ORPHA:244
HP:0002643	Neonatal respiratory distress	54970	TTC12	ORPHA:244
HP:0002643	Neonatal respiratory distress	2302	FOXJ1	ORPHA:244
HP:0002643	Neonatal respiratory distress	2302	FOXJ1	OMIM:618699
HP:0002643	Neonatal respiratory distress	85478	CCDC65	ORPHA:244
HP:0002643	Neonatal respiratory distress	85478	CCDC65	OMIM:615504
HP:0002643	Neonatal respiratory distress	8382	NME5	ORPHA:244
HP:0002643	Neonatal respiratory distress	6674	SPAG1	ORPHA:244
HP:0002643	Neonatal respiratory distress	6674	SPAG1	OMIM:615505
HP:0002643	Neonatal respiratory distress	83544	DNAL1	ORPHA:244
HP:0002643	Neonatal respiratory distress	200373	CFAP221	ORPHA:244
HP:0002643	Neonatal respiratory distress	55172	DNAAF2	ORPHA:244
HP:0002643	Neonatal respiratory distress	2622	GAS8	ORPHA:244
HP:0002643	Neonatal respiratory distress	23639	DNAAF11	ORPHA:244
HP:0002643	Neonatal respiratory distress	27019	DNAI1	ORPHA:244
HP:0002643	Neonatal respiratory distress	6103	RPGR	ORPHA:244
HP:0002643	Neonatal respiratory distress	85452	CFAP74	ORPHA:244
HP:0002643	Neonatal respiratory distress	93233	ODAD1	ORPHA:244
HP:0002643	Neonatal respiratory distress	345643	MCIDAS	ORPHA:244
HP:0002643	Neonatal respiratory distress	56683	CFAP298	ORPHA:244
HP:0002643	Neonatal respiratory distress	56683	CFAP298	OMIM:615500
HP:0002643	Neonatal respiratory distress	79925	SPEF2	ORPHA:244
HP:0002643	Neonatal respiratory distress	10309	CCNO	ORPHA:244
HP:0002643	Neonatal respiratory distress	115399	LRRC56	ORPHA:244
HP:0002643	Neonatal respiratory distress	123872	DNAAF1	ORPHA:244
HP:0002643	Neonatal respiratory distress	8701	DNAH11	ORPHA:244
HP:0002643	Neonatal respiratory distress	1770	DNAH9	ORPHA:244
HP:0002643	Neonatal respiratory distress	246176	GAS2L2	ORPHA:244
HP:0002643	Neonatal respiratory distress	171023	ASXL1	OMIM:605039
HP:0002643	Neonatal respiratory distress	667	DST	OMIM:614653
HP:0002643	Neonatal respiratory distress	2719	GPC3	OMIM:312870
HP:0002643	Neonatal respiratory distress	2239	GPC4	OMIM:312870
HP:0002643	Neonatal respiratory distress	29969	MDFIC	OMIM:620014
HP:0002643	Neonatal respiratory distress	6329	SCN4A	ORPHA:684
HP:0002643	Neonatal respiratory distress	3835	KIF22	ORPHA:93360
HP:0002643	Neonatal respiratory distress	91949	COG7	OMIM:608779
HP:0002643	Neonatal respiratory distress	9968	MED12	ORPHA:2728
HP:0002643	Neonatal respiratory distress	23729	SHPK	ORPHA:440713
HP:0002643	Neonatal respiratory distress	3284	HSD3B2	ORPHA:90791
HP:0002643	Neonatal respiratory distress	165918	RNF168	ORPHA:420741
HP:0002643	Neonatal respiratory distress	274	BIN1	ORPHA:169189
HP:0002643	Neonatal respiratory distress	64419	MTMR14	ORPHA:169189
HP:0002643	Neonatal respiratory distress	4618	MYF6	ORPHA:169189
HP:0002643	Neonatal respiratory distress	1785	DNM2	ORPHA:169189
HP:0002643	Neonatal respiratory distress	2584	GALK1	ORPHA:79237
HP:0002644	Abnormal pelvic girdle bone morphology	28981	IFT81	OMIM:617895
HP:0002644	Abnormal pelvic girdle bone morphology	3636	INPPL1	ORPHA:3144
HP:0002644	Abnormal pelvic girdle bone morphology	23169	SLC35D1	ORPHA:3144
HP:0002644	Abnormal pelvic girdle bone morphology	6223	RPS19	OMIM:105650
HP:0002644	Abnormal pelvic girdle bone morphology	388015	RTL1	ORPHA:96334
HP:0002644	Abnormal pelvic girdle bone morphology	8788	DLK1	ORPHA:96334
HP:0002644	Abnormal pelvic girdle bone morphology	55384	MEG3	ORPHA:96334
HP:0002644	Abnormal pelvic girdle bone morphology	54	ACP5	ORPHA:1855
HP:0002644	Abnormal pelvic girdle bone morphology	6628	SNRPB	OMIM:117650
HP:0002644	Abnormal pelvic girdle bone morphology	1182	CLCN3	OMIM:619512
HP:0002644	Abnormal pelvic girdle bone morphology	2138	EYA1	OMIM:113650
HP:0002644	Abnormal pelvic girdle bone morphology	6495	SIX1	OMIM:113650
HP:0002644	Abnormal pelvic girdle bone morphology	5048	PAFAH1B1	ORPHA:217385
HP:0002644	Abnormal pelvic girdle bone morphology	7531	YWHAE	ORPHA:217385
HP:0002644	Abnormal pelvic girdle bone morphology	8195	MKKS	OMIM:236700
HP:0002644	Abnormal pelvic girdle bone morphology	1131	CHRM3	ORPHA:2970
HP:0002644	Abnormal pelvic girdle bone morphology	1131	CHRM3	OMIM:100100
HP:0002644	Abnormal pelvic girdle bone morphology	10060	ABCC9	OMIM:619719
HP:0002644	Abnormal pelvic girdle bone morphology	23545	ATP6V0A2	OMIM:219200
HP:0002644	Abnormal pelvic girdle bone morphology	23545	ATP6V0A2	ORPHA:357074
HP:0002644	Abnormal pelvic girdle bone morphology	23545	ATP6V0A2	ORPHA:2834
HP:0002644	Abnormal pelvic girdle bone morphology	23545	ATP6V0A2	OMIM:278250
HP:0002644	Abnormal pelvic girdle bone morphology	9401	RECQL4	OMIM:268400
HP:0002644	Abnormal pelvic girdle bone morphology	89910	UBE3B	OMIM:244450
HP:0002644	Abnormal pelvic girdle bone morphology	1723	DHODH	OMIM:263750
HP:0002644	Abnormal pelvic girdle bone morphology	60482	SLC5A7	ORPHA:98914
HP:0002644	Abnormal pelvic girdle bone morphology	4649	MYO9A	ORPHA:98914
HP:0002644	Abnormal pelvic girdle bone morphology	1305	COL13A1	ORPHA:98914
HP:0002644	Abnormal pelvic girdle bone morphology	1103	CHAT	ORPHA:98914
HP:0002644	Abnormal pelvic girdle bone morphology	6576	SLC25A1	ORPHA:98914
HP:0002644	Abnormal pelvic girdle bone morphology	6843	VAMP1	ORPHA:98914
HP:0002644	Abnormal pelvic girdle bone morphology	375790	AGRN	ORPHA:98914
HP:0002644	Abnormal pelvic girdle bone morphology	127833	SYT2	ORPHA:98914
HP:0002644	Abnormal pelvic girdle bone morphology	6572	SLC18A3	ORPHA:98914
HP:0002644	Abnormal pelvic girdle bone morphology	6616	SNAP25	ORPHA:98914
HP:0002644	Abnormal pelvic girdle bone morphology	2273	FHL1	OMIM:300280
HP:0002644	Abnormal pelvic girdle bone morphology	6904	TBCD	ORPHA:496641
HP:0002644	Abnormal pelvic girdle bone morphology	7547	ZIC3	OMIM:306955
HP:0002644	Abnormal pelvic girdle bone morphology	5528	PPP2R5D	ORPHA:457279
HP:0002644	Abnormal pelvic girdle bone morphology	5528	PPP2R5D	OMIM:616355
HP:0002644	Abnormal pelvic girdle bone morphology	8260	NAA10	OMIM:300855
HP:0002644	Abnormal pelvic girdle bone morphology	50628	GEMIN4	OMIM:617913
HP:0002644	Abnormal pelvic girdle bone morphology	1281	COL3A1	ORPHA:286
HP:0002644	Abnormal pelvic girdle bone morphology	9427	ECEL1	OMIM:615065
HP:0002644	Abnormal pelvic girdle bone morphology	7067	THRA	OMIM:614450
HP:0002644	Abnormal pelvic girdle bone morphology	4035	LRP1	OMIM:620690
HP:0002644	Abnormal pelvic girdle bone morphology	8838	CCN6	ORPHA:1159
HP:0002644	Abnormal pelvic girdle bone morphology	6775	STAT4	ORPHA:85408
HP:0002644	Abnormal pelvic girdle bone morphology	3560	IL2RB	ORPHA:85408
HP:0002644	Abnormal pelvic girdle bone morphology	79722	ANKRD55	ORPHA:85408
HP:0002644	Abnormal pelvic girdle bone morphology	26191	PTPN22	ORPHA:85408
HP:0002644	Abnormal pelvic girdle bone morphology	919	CD247	ORPHA:85408
HP:0002644	Abnormal pelvic girdle bone morphology	3559	IL2RA	ORPHA:85408
HP:0002644	Abnormal pelvic girdle bone morphology	5771	PTPN2	ORPHA:85408
HP:0002644	Abnormal pelvic girdle bone morphology	1280	COL2A1	ORPHA:1856
HP:0002644	Abnormal pelvic girdle bone morphology	5167	ENPP1	ORPHA:51608
HP:0002644	Abnormal pelvic girdle bone morphology	368	ABCC6	ORPHA:51608
HP:0002644	Abnormal pelvic girdle bone morphology	4148	MATN3	ORPHA:93311
HP:0002644	Abnormal pelvic girdle bone morphology	1299	COL9A3	OMIM:600969
HP:0002644	Abnormal pelvic girdle bone morphology	10054	UBA2	OMIM:619959
HP:0002644	Abnormal pelvic girdle bone morphology	60684	TRAPPC11	OMIM:615356
HP:0002644	Abnormal pelvic girdle bone morphology	4897	NRCAM	OMIM:619833
HP:0002644	Abnormal pelvic girdle bone morphology	55777	MBD5	ORPHA:228402
HP:0002644	Abnormal pelvic girdle bone morphology	55777	MBD5	OMIM:156200
HP:0002644	Abnormal pelvic girdle bone morphology	3190	HNRNPK	ORPHA:453504
HP:0002644	Abnormal pelvic girdle bone morphology	3190	HNRNPK	OMIM:616580
HP:0002644	Abnormal pelvic girdle bone morphology	3190	HNRNPK	ORPHA:352665
HP:0002644	Abnormal pelvic girdle bone morphology	4784	NFIX	ORPHA:447980
HP:0002644	Abnormal pelvic girdle bone morphology	4784	NFIX	OMIM:602535
HP:0002644	Abnormal pelvic girdle bone morphology	80232	WDR26	ORPHA:513456
HP:0002644	Abnormal pelvic girdle bone morphology	478	ATP1A3	OMIM:619606
HP:0002644	Abnormal pelvic girdle bone morphology	2137	EXTL3	OMIM:617425
HP:0002644	Abnormal pelvic girdle bone morphology	10847	SRCAP	ORPHA:2044
HP:0002644	Abnormal pelvic girdle bone morphology	10847	SRCAP	OMIM:136140
HP:0002644	Abnormal pelvic girdle bone morphology	55768	NGLY1	ORPHA:404454
HP:0002644	Abnormal pelvic girdle bone morphology	79158	GNPTAB	OMIM:252500
HP:0002644	Abnormal pelvic girdle bone morphology	6595	SMARCA2	OMIM:619293
HP:0002644	Abnormal pelvic girdle bone morphology	1300	COL10A1	ORPHA:174
HP:0002644	Abnormal pelvic girdle bone morphology	84992	PIGY	ORPHA:247262
HP:0002644	Abnormal pelvic girdle bone morphology	84992	PIGY	OMIM:616809
HP:0002644	Abnormal pelvic girdle bone morphology	84720	PIGO	ORPHA:247262
HP:0002644	Abnormal pelvic girdle bone morphology	93210	PGAP3	ORPHA:247262
HP:0002644	Abnormal pelvic girdle bone morphology	284098	PIGW	ORPHA:247262
HP:0002644	Abnormal pelvic girdle bone morphology	27315	PGAP2	ORPHA:247262
HP:0002644	Abnormal pelvic girdle bone morphology	55650	PIGV	ORPHA:247262
HP:0002644	Abnormal pelvic girdle bone morphology	9487	PIGL	ORPHA:247262
HP:0002644	Abnormal pelvic girdle bone morphology	3423	IDS	ORPHA:217085
HP:0002644	Abnormal pelvic girdle bone morphology	3423	IDS	ORPHA:217093
HP:0002644	Abnormal pelvic girdle bone morphology	5290	PIK3CA	ORPHA:140944
HP:0002644	Abnormal pelvic girdle bone morphology	55325	UFSP2	OMIM:142669
HP:0002644	Abnormal pelvic girdle bone morphology	55325	UFSP2	ORPHA:2114
HP:0002644	Abnormal pelvic girdle bone morphology	2720	GLB1	OMIM:253010
HP:0002644	Abnormal pelvic girdle bone morphology	51199	NIN	OMIM:614851
HP:0002644	Abnormal pelvic girdle bone morphology	51199	NIN	ORPHA:319675
HP:0002644	Abnormal pelvic girdle bone morphology	55012	PPP2R3C	OMIM:618419
HP:0002644	Abnormal pelvic girdle bone morphology	63894	VIPAS39	OMIM:613404
HP:0002644	Abnormal pelvic girdle bone morphology	7468	NSD2	OMIM:194190
HP:0002644	Abnormal pelvic girdle bone morphology	10815	CPLX1	OMIM:194190
HP:0002644	Abnormal pelvic girdle bone morphology	1487	CTBP1	OMIM:194190
HP:0002644	Abnormal pelvic girdle bone morphology	53834	FGFRL1	OMIM:194190
HP:0002644	Abnormal pelvic girdle bone morphology	3954	LETM1	OMIM:194190
HP:0002644	Abnormal pelvic girdle bone morphology	23299	BICD2	ORPHA:363454
HP:0002644	Abnormal pelvic girdle bone morphology	23299	BICD2	OMIM:615290
HP:0002644	Abnormal pelvic girdle bone morphology	5518	PPP2R1A	OMIM:616362
HP:0002644	Abnormal pelvic girdle bone morphology	5518	PPP2R1A	ORPHA:457284
HP:0002644	Abnormal pelvic girdle bone morphology	1857	DVL3	ORPHA:3107
HP:0002644	Abnormal pelvic girdle bone morphology	7474	WNT5A	ORPHA:3107
HP:0002644	Abnormal pelvic girdle bone morphology	1855	DVL1	ORPHA:3107
HP:0002644	Abnormal pelvic girdle bone morphology	2535	FZD2	ORPHA:3107
HP:0002644	Abnormal pelvic girdle bone morphology	8239	USP9X	ORPHA:480880
HP:0002644	Abnormal pelvic girdle bone morphology	8239	USP9X	OMIM:300968
HP:0002644	Abnormal pelvic girdle bone morphology	2122	MECOM	ORPHA:71289
HP:0002644	Abnormal pelvic girdle bone morphology	3207	HOXA11	ORPHA:71289
HP:0002644	Abnormal pelvic girdle bone morphology	5590	PRKCZ	ORPHA:1606
HP:0002644	Abnormal pelvic girdle bone morphology	2563	GABRD	ORPHA:1606
HP:0002644	Abnormal pelvic girdle bone morphology	23013	SPEN	ORPHA:1606
HP:0002644	Abnormal pelvic girdle bone morphology	8510	MMP23B	ORPHA:1606
HP:0002644	Abnormal pelvic girdle bone morphology	7798	LUZP1	ORPHA:1606
HP:0002644	Abnormal pelvic girdle bone morphology	6497	SKI	ORPHA:1606
HP:0002644	Abnormal pelvic girdle bone morphology	10630	PDPN	ORPHA:1606
HP:0002644	Abnormal pelvic girdle bone morphology	3339	HSPG2	ORPHA:1606
HP:0002644	Abnormal pelvic girdle bone morphology	3339	HSPG2	ORPHA:800
HP:0002644	Abnormal pelvic girdle bone morphology	10277	UBE4B	ORPHA:1606
HP:0002644	Abnormal pelvic girdle bone morphology	8514	KCNAB2	ORPHA:1606
HP:0002644	Abnormal pelvic girdle bone morphology	473	RERE	ORPHA:1606
HP:0002644	Abnormal pelvic girdle bone morphology	473	RERE	OMIM:616975
HP:0002644	Abnormal pelvic girdle bone morphology	473	RERE	ORPHA:494344
HP:0002644	Abnormal pelvic girdle bone morphology	63976	PRDM16	ORPHA:1606
HP:0002644	Abnormal pelvic girdle bone morphology	54897	CASZ1	ORPHA:1606
HP:0002644	Abnormal pelvic girdle bone morphology	81031	SLC2A10	ORPHA:3342
HP:0002644	Abnormal pelvic girdle bone morphology	55027	HEATR3	OMIM:620072
HP:0002644	Abnormal pelvic girdle bone morphology	10236	HNRNPR	OMIM:620073
HP:0002644	Abnormal pelvic girdle bone morphology	55210	ATAD3A	ORPHA:496790
HP:0002644	Abnormal pelvic girdle bone morphology	55210	ATAD3A	OMIM:617183
HP:0002644	Abnormal pelvic girdle bone morphology	26137	ZBTB20	OMIM:259050
HP:0002644	Abnormal pelvic girdle bone morphology	8314	BAP1	OMIM:619762
HP:0002644	Abnormal pelvic girdle bone morphology	54928	BPNT2	OMIM:614078
HP:0002644	Abnormal pelvic girdle bone morphology	4849	CNOT3	OMIM:618672
HP:0002644	Abnormal pelvic girdle bone morphology	200424	TET3	OMIM:618798
HP:0002644	Abnormal pelvic girdle bone morphology	10667	FARS2	ORPHA:466722
HP:0002644	Abnormal pelvic girdle bone morphology	11128	POLR3A	ORPHA:3455
HP:0002644	Abnormal pelvic girdle bone morphology	11107	PRDM5	ORPHA:90354
HP:0002644	Abnormal pelvic girdle bone morphology	84627	ZNF469	ORPHA:90354
HP:0002644	Abnormal pelvic girdle bone morphology	6638	SNRPN	ORPHA:98754
HP:0002644	Abnormal pelvic girdle bone morphology	6638	SNRPN	ORPHA:177904
HP:0002644	Abnormal pelvic girdle bone morphology	6638	SNRPN	ORPHA:177901
HP:0002644	Abnormal pelvic girdle bone morphology	4692	NDN	ORPHA:98754
HP:0002644	Abnormal pelvic girdle bone morphology	4692	NDN	ORPHA:177904
HP:0002644	Abnormal pelvic girdle bone morphology	4692	NDN	ORPHA:177901
HP:0002644	Abnormal pelvic girdle bone morphology	54551	MAGEL2	ORPHA:98754
HP:0002644	Abnormal pelvic girdle bone morphology	54551	MAGEL2	OMIM:176270
HP:0002644	Abnormal pelvic girdle bone morphology	54551	MAGEL2	ORPHA:177904
HP:0002644	Abnormal pelvic girdle bone morphology	54551	MAGEL2	ORPHA:177901
HP:0002644	Abnormal pelvic girdle bone morphology	54551	MAGEL2	ORPHA:398069
HP:0002644	Abnormal pelvic girdle bone morphology	4948	OCA2	ORPHA:98754
HP:0002644	Abnormal pelvic girdle bone morphology	4948	OCA2	ORPHA:177904
HP:0002644	Abnormal pelvic girdle bone morphology	4948	OCA2	ORPHA:177901
HP:0002644	Abnormal pelvic girdle bone morphology	90	ACVR1	ORPHA:337
HP:0002644	Abnormal pelvic girdle bone morphology	7030	TFE3	OMIM:301066
HP:0002644	Abnormal pelvic girdle bone morphology	9968	MED12	OMIM:300895
HP:0002644	Abnormal pelvic girdle bone morphology	545	ATR	ORPHA:808
HP:0002644	Abnormal pelvic girdle bone morphology	1062	CENPE	ORPHA:808
HP:0002644	Abnormal pelvic girdle bone morphology	5116	PCNT	ORPHA:808
HP:0002644	Abnormal pelvic girdle bone morphology	5932	RBBP8	ORPHA:808
HP:0002644	Abnormal pelvic girdle bone morphology	79902	NUP85	ORPHA:808
HP:0002644	Abnormal pelvic girdle bone morphology	84126	ATRIP	ORPHA:808
HP:0002644	Abnormal pelvic girdle bone morphology	10293	TRAIP	ORPHA:808
HP:0002644	Abnormal pelvic girdle bone morphology	1763	DNA2	ORPHA:808
HP:0002644	Abnormal pelvic girdle bone morphology	22995	CEP152	ORPHA:808
HP:0002644	Abnormal pelvic girdle bone morphology	10733	PLK4	ORPHA:808
HP:0002644	Abnormal pelvic girdle bone morphology	1387	CREBBP	OMIM:618332
HP:0002644	Abnormal pelvic girdle bone morphology	1387	CREBBP	ORPHA:592574
HP:0002644	Abnormal pelvic girdle bone morphology	1387	CREBBP	ORPHA:353277
HP:0002644	Abnormal pelvic girdle bone morphology	51053	GMNN	OMIM:616835
HP:0002644	Abnormal pelvic girdle bone morphology	79628	SH3TC2	ORPHA:99949
HP:0002644	Abnormal pelvic girdle bone morphology	1642	DDB1	OMIM:619426
HP:0002644	Abnormal pelvic girdle bone morphology	10664	CTCF	OMIM:615502
HP:0002644	Abnormal pelvic girdle bone morphology	5908	RAP1B	OMIM:620654
HP:0002644	Abnormal pelvic girdle bone morphology	9230	RAB11B	OMIM:617807
HP:0002644	Abnormal pelvic girdle bone morphology	78987	CRELD1	OMIM:620771
HP:0002644	Abnormal pelvic girdle bone morphology	59341	TRPV4	OMIM:181405
HP:0002644	Abnormal pelvic girdle bone morphology	57190	SELENON	ORPHA:324604
HP:0002644	Abnormal pelvic girdle bone morphology	4625	MYH7	ORPHA:324604
HP:0002644	Abnormal pelvic girdle bone morphology	7273	TTN	ORPHA:324604
HP:0002644	Abnormal pelvic girdle bone morphology	8243	SMC1A	OMIM:301044
HP:0002644	Abnormal pelvic girdle bone morphology	8243	SMC1A	ORPHA:199
HP:0002644	Abnormal pelvic girdle bone morphology	253738	EBF3	ORPHA:96148
HP:0002644	Abnormal pelvic girdle bone morphology	100033413	SNORD116-1	OMIM:176270
HP:0002644	Abnormal pelvic girdle bone morphology	8924	HERC2	OMIM:176270
HP:0002644	Abnormal pelvic girdle bone morphology	23742	NPAP1	OMIM:176270
HP:0002644	Abnormal pelvic girdle bone morphology	338433	SNORD115-1	OMIM:176270
HP:0002644	Abnormal pelvic girdle bone morphology	7681	MKRN3	OMIM:176270
HP:0002644	Abnormal pelvic girdle bone morphology	145624	PWAR1	OMIM:176270
HP:0002644	Abnormal pelvic girdle bone morphology	3653	IPW	OMIM:176270
HP:0002644	Abnormal pelvic girdle bone morphology	791114	PWRN1	OMIM:176270
HP:0002644	Abnormal pelvic girdle bone morphology	411	ARSB	OMIM:253200
HP:0002644	Abnormal pelvic girdle bone morphology	7372	UMPS	ORPHA:30
HP:0002644	Abnormal pelvic girdle bone morphology	63895	PIEZO2	OMIM:617146
HP:0002644	Abnormal pelvic girdle bone morphology	6492	SIM1	ORPHA:398079
HP:0002644	Abnormal pelvic girdle bone morphology	8312	AXIN1	OMIM:620558
HP:0002644	Abnormal pelvic girdle bone morphology	2033	EP300	ORPHA:353284
HP:0002644	Abnormal pelvic girdle bone morphology	3097	HIVEP2	OMIM:616977
HP:0002644	Abnormal pelvic girdle bone morphology	1311	COMP	ORPHA:93308
HP:0002644	Abnormal pelvic girdle bone morphology	23729	SHPK	ORPHA:440713
HP:0002644	Abnormal pelvic girdle bone morphology	153642	ARSK	OMIM:619698
HP:0002644	Abnormal pelvic girdle bone morphology	10265	IRX5	OMIM:611174
HP:0002644	Abnormal pelvic girdle bone morphology	23476	BRD4	OMIM:620568
HP:0002644	Abnormal pelvic girdle bone morphology	23476	BRD4	ORPHA:199
HP:0002644	Abnormal pelvic girdle bone morphology	83987	CCDC8	OMIM:614205
HP:0002644	Abnormal pelvic girdle bone morphology	9719	ADAMTSL2	ORPHA:1901
HP:0002644	Abnormal pelvic girdle bone morphology	9509	ADAMTS2	ORPHA:1901
HP:0002644	Abnormal pelvic girdle bone morphology	22827	PUF60	ORPHA:508488
HP:0002644	Abnormal pelvic girdle bone morphology	26276	VPS33B	OMIM:208085
HP:0002644	Abnormal pelvic girdle bone morphology	11342	RNF13	OMIM:618379
HP:0002644	Abnormal pelvic girdle bone morphology	11342	RNF13	ORPHA:544503
HP:0002644	Abnormal pelvic girdle bone morphology	1822	ATN1	OMIM:618494
HP:0002644	Abnormal pelvic girdle bone morphology	26040	SETBP1	OMIM:616078
HP:0002644	Abnormal pelvic girdle bone morphology	57511	COG6	OMIM:614576
HP:0002644	Abnormal pelvic girdle bone morphology	57187	THOC2	ORPHA:457240
HP:0002644	Abnormal pelvic girdle bone morphology	64374	SIL1	ORPHA:559
HP:0002644	Abnormal pelvic girdle bone morphology	4000	LMNA	ORPHA:79474
HP:0002644	Abnormal pelvic girdle bone morphology	9126	SMC3	ORPHA:199
HP:0002644	Abnormal pelvic girdle bone morphology	6878	TAF6	ORPHA:199
HP:0002644	Abnormal pelvic girdle bone morphology	25836	NIPBL	ORPHA:199
HP:0002644	Abnormal pelvic girdle bone morphology	55869	HDAC8	ORPHA:199
HP:0002644	Abnormal pelvic girdle bone morphology	5885	RAD21	ORPHA:199
HP:0002644	Abnormal pelvic girdle bone morphology	5885	RAD21	ORPHA:502
HP:0002644	Abnormal pelvic girdle bone morphology	50801	KCNK4	OMIM:618381
HP:0002644	Abnormal pelvic girdle bone morphology	538	ATP7A	ORPHA:198
HP:0002644	Abnormal pelvic girdle bone morphology	7874	USP7	ORPHA:500055
HP:0002644	Abnormal pelvic girdle bone morphology	64841	GNPNAT1	OMIM:619598
HP:0002644	Abnormal pelvic girdle bone morphology	57003	CCDC47	OMIM:618268
HP:0002644	Abnormal pelvic girdle bone morphology	10526	IPO8	OMIM:619472
HP:0002644	Abnormal pelvic girdle bone morphology	80036	TRPM3	OMIM:620224
HP:0002644	Abnormal pelvic girdle bone morphology	7227	TRPS1	ORPHA:502
HP:0002644	Abnormal pelvic girdle bone morphology	1298	COL9A2	OMIM:600204
HP:0002644	Abnormal pelvic girdle bone morphology	6872	TAF1	OMIM:300966
HP:0002644	Abnormal pelvic girdle bone morphology	285590	SH3PXD2B	OMIM:249420
HP:0002644	Abnormal pelvic girdle bone morphology	29123	ANKRD11	ORPHA:261250
HP:0002644	Abnormal pelvic girdle bone morphology	2799	GNS	OMIM:252940
HP:0002644	Abnormal pelvic girdle bone morphology	126792	B3GALT6	ORPHA:536467
HP:0002644	Abnormal pelvic girdle bone morphology	126792	B3GALT6	OMIM:615349
HP:0002644	Abnormal pelvic girdle bone morphology	55898	UNC45A	OMIM:619377
HP:0002644	Abnormal pelvic girdle bone morphology	55023	PHIP	OMIM:617991
HP:0002644	Abnormal pelvic girdle bone morphology	51780	KDM3B	OMIM:618846
HP:0002644	Abnormal pelvic girdle bone morphology	203190	LGI3	OMIM:620007
HP:0002644	Abnormal pelvic girdle bone morphology	284058	KANSL1	OMIM:610443
HP:0002644	Abnormal pelvic girdle bone morphology	5557	PRIM1	OMIM:620005
HP:0002644	Abnormal pelvic girdle bone morphology	64432	MRPS25	OMIM:619025
HP:0002644	Abnormal pelvic girdle bone morphology	7543	ZFX	OMIM:301118
HP:0002644	Abnormal pelvic girdle bone morphology	523	ATP6V1A	OMIM:617403
HP:0002644	Abnormal pelvic girdle bone morphology	529	ATP6V1E1	OMIM:617402
HP:0002644	Abnormal pelvic girdle bone morphology	55753	OGDHL	OMIM:619701
HP:0002644	Abnormal pelvic girdle bone morphology	2737	GLI3	ORPHA:93322
HP:0002644	Abnormal pelvic girdle bone morphology	8085	KMT2D	OMIM:147920
HP:0002644	Abnormal pelvic girdle bone morphology	7403	KDM6A	OMIM:147920
HP:0002644	Abnormal pelvic girdle bone morphology	4322	MMP13	ORPHA:2501
HP:0002644	Abnormal pelvic girdle bone morphology	23443	SLC35A3	ORPHA:370943
HP:0002644	Abnormal pelvic girdle bone morphology	50964	SOST	OMIM:269500
HP:0002644	Abnormal pelvic girdle bone morphology	9851	KIAA0753	ORPHA:474
HP:0002644	Abnormal pelvic girdle bone morphology	55112	DYNC2I1	ORPHA:474
HP:0002644	Abnormal pelvic girdle bone morphology	26160	IFT172	ORPHA:474
HP:0002644	Abnormal pelvic girdle bone morphology	153241	CEP120	ORPHA:474
HP:0002644	Abnormal pelvic girdle bone morphology	57560	IFT80	ORPHA:474
HP:0002644	Abnormal pelvic girdle bone morphology	51626	DYNC2LI1	ORPHA:474
HP:0002644	Abnormal pelvic girdle bone morphology	51626	DYNC2LI1	ORPHA:289
HP:0002644	Abnormal pelvic girdle bone morphology	79659	DYNC2H1	ORPHA:474
HP:0002644	Abnormal pelvic girdle bone morphology	9742	IFT140	ORPHA:474
HP:0002644	Abnormal pelvic girdle bone morphology	57728	WDR19	ORPHA:474
HP:0002644	Abnormal pelvic girdle bone morphology	89891	DYNC2I2	ORPHA:474
HP:0002644	Abnormal pelvic girdle bone morphology	79809	TTC21B	ORPHA:474
HP:0002644	Abnormal pelvic girdle bone morphology	145173	B3GLCT	OMIM:261540
HP:0002644	Abnormal pelvic girdle bone morphology	6023	RMRP	OMIM:250250
HP:0002644	Abnormal pelvic girdle bone morphology	6023	RMRP	ORPHA:175
HP:0002644	Abnormal pelvic girdle bone morphology	6023	RMRP	OMIM:250460
HP:0002644	Abnormal pelvic girdle bone morphology	6804	STX1A	ORPHA:904
HP:0002644	Abnormal pelvic girdle bone morphology	7461	CLIP2	ORPHA:904
HP:0002644	Abnormal pelvic girdle bone morphology	84277	DNAJC30	ORPHA:904
HP:0002644	Abnormal pelvic girdle bone morphology	8468	FKBP6	ORPHA:904
HP:0002644	Abnormal pelvic girdle bone morphology	5982	RFC2	ORPHA:904
HP:0002644	Abnormal pelvic girdle bone morphology	2969	GTF2I	ORPHA:904
HP:0002644	Abnormal pelvic girdle bone morphology	3984	LIMK1	ORPHA:904
HP:0002644	Abnormal pelvic girdle bone morphology	9569	GTF2IRD1	ORPHA:904
HP:0002644	Abnormal pelvic girdle bone morphology	155382	VPS37D	ORPHA:904
HP:0002644	Abnormal pelvic girdle bone morphology	155368	METTL27	ORPHA:904
HP:0002644	Abnormal pelvic girdle bone morphology	114049	BUD23	ORPHA:904
HP:0002644	Abnormal pelvic girdle bone morphology	7458	EIF4H	ORPHA:904
HP:0002644	Abnormal pelvic girdle bone morphology	84163	GTF2IRD2	ORPHA:904
HP:0002644	Abnormal pelvic girdle bone morphology	26608	TBL2	ORPHA:904
HP:0002644	Abnormal pelvic girdle bone morphology	653361	NCF1	ORPHA:904
HP:0002644	Abnormal pelvic girdle bone morphology	135886	TMEM270	ORPHA:904
HP:0002644	Abnormal pelvic girdle bone morphology	9031	BAZ1B	ORPHA:904
HP:0002644	Abnormal pelvic girdle bone morphology	2006	ELN	ORPHA:904
HP:0002644	Abnormal pelvic girdle bone morphology	7415	VCP	OMIM:167320
HP:0002644	Abnormal pelvic girdle bone morphology	6916	TBXAS1	ORPHA:1802
HP:0002644	Abnormal pelvic girdle bone morphology	2261	FGFR3	ORPHA:429
HP:0002644	Abnormal pelvic girdle bone morphology	7040	TGFB1	ORPHA:1328
HP:0002644	Abnormal pelvic girdle bone morphology	81839	VANGL1	ORPHA:3027
HP:0002644	Abnormal pelvic girdle bone morphology	80199	FUZ	ORPHA:3027
HP:0002644	Abnormal pelvic girdle bone morphology	4041	LRP5	OMIM:607634
HP:0002644	Abnormal pelvic girdle bone morphology	4041	LRP5	OMIM:144750
HP:0002644	Abnormal pelvic girdle bone morphology	9496	TBX4	ORPHA:1509
HP:0002644	Abnormal pelvic girdle bone morphology	8443	GNPAT	OMIM:222765
HP:0002644	Abnormal pelvic girdle bone morphology	1186	CLCN7	OMIM:166600
HP:0002644	Abnormal pelvic girdle bone morphology	5251	PHEX	OMIM:307800
HP:0002644	Abnormal pelvic girdle bone morphology	1836	SLC26A2	OMIM:256050
HP:0002644	Abnormal pelvic girdle bone morphology	4998	ORC1	OMIM:224690
HP:0002644	Abnormal pelvic girdle bone morphology	100	ADA	OMIM:102700
HP:0002644	Abnormal pelvic girdle bone morphology	55733	HHAT	ORPHA:1422
HP:0002644	Abnormal pelvic girdle bone morphology	56172	ANKH	OMIM:123000
HP:0002644	Abnormal pelvic girdle bone morphology	1277	COL1A1	OMIM:166210
HP:0002644	Abnormal pelvic girdle bone morphology	1278	COL1A2	OMIM:166210
HP:0002644	Abnormal pelvic girdle bone morphology	2317	FLNB	OMIM:272460
HP:0002644	Abnormal pelvic girdle bone morphology	8200	GDF5	ORPHA:968
HP:0002644	Abnormal pelvic girdle bone morphology	387733	IFITM5	OMIM:610967
HP:0002644	Abnormal pelvic girdle bone morphology	10262	SF3B4	ORPHA:1788
HP:0002644	Abnormal pelvic girdle bone morphology	5832	ALDH18A1	OMIM:601162
HP:0002644	Abnormal pelvic girdle bone morphology	10682	EBP	OMIM:302960
HP:0002644	Abnormal pelvic girdle bone morphology	5566	PRKACA	ORPHA:289
HP:0002644	Abnormal pelvic girdle bone morphology	5567	PRKACB	ORPHA:289
HP:0002644	Abnormal pelvic girdle bone morphology	2735	GLI1	ORPHA:289
HP:0002644	Abnormal pelvic girdle bone morphology	2121	EVC	ORPHA:289
HP:0002644	Abnormal pelvic girdle bone morphology	132884	EVC2	ORPHA:289
HP:0002644	Abnormal pelvic girdle bone morphology	6473	SHOX	ORPHA:240
HP:0002644	Abnormal pelvic girdle bone morphology	2263	FGFR2	OMIM:101400
HP:0002644	Abnormal pelvic girdle bone morphology	7291	TWIST1	OMIM:101400
HP:0002644	Abnormal pelvic girdle bone morphology	860	RUNX2	ORPHA:1452
HP:0002644	Abnormal pelvic girdle bone morphology	84168	ANTXR1	ORPHA:2067
HP:0002644	Abnormal pelvic girdle bone morphology	9361	LONP1	ORPHA:1458
HP:0002644	Abnormal pelvic girdle bone morphology	5648	MASP1	OMIM:257920
HP:0002644	Abnormal pelvic girdle bone morphology	5648	MASP1	ORPHA:293843
HP:0002644	Abnormal pelvic girdle bone morphology	78989	COLEC11	OMIM:265050
HP:0002644	Abnormal pelvic girdle bone morphology	78989	COLEC11	ORPHA:293843
HP:0002644	Abnormal pelvic girdle bone morphology	10584	COLEC10	ORPHA:293843
HP:0002644	Abnormal pelvic girdle bone morphology	79633	FAT4	ORPHA:314679
HP:0002644	Abnormal pelvic girdle bone morphology	8642	DCHS1	ORPHA:314679
HP:0002644	Abnormal pelvic girdle bone morphology	55703	POLR3B	OMIM:614381
HP:0002644	Abnormal pelvic girdle bone morphology	652	BMP4	ORPHA:828
HP:0002644	Abnormal pelvic girdle bone morphology	1303	COL12A1	ORPHA:75840
HP:0002644	Abnormal pelvic girdle bone morphology	1303	COL12A1	OMIM:616471
HP:0002644	Abnormal pelvic girdle bone morphology	1291	COL6A1	ORPHA:75840
HP:0002644	Abnormal pelvic girdle bone morphology	1291	COL6A1	OMIM:254090
HP:0002644	Abnormal pelvic girdle bone morphology	1292	COL6A2	ORPHA:75840
HP:0002644	Abnormal pelvic girdle bone morphology	1292	COL6A2	OMIM:620727
HP:0002644	Abnormal pelvic girdle bone morphology	1293	COL6A3	ORPHA:75840
HP:0002644	Abnormal pelvic girdle bone morphology	6662	SOX9	ORPHA:140
HP:0002644	Abnormal pelvic girdle bone morphology	6662	SOX9	OMIM:114290
HP:0002644	Abnormal pelvic girdle bone morphology	58	ACTA1	ORPHA:171436
HP:0002644	Abnormal pelvic girdle bone morphology	4703	NEB	ORPHA:171436
HP:0002644	Abnormal pelvic girdle bone morphology	10324	KLHL41	ORPHA:171436
HP:0002644	Abnormal pelvic girdle bone morphology	56203	LMOD3	ORPHA:171436
HP:0002644	Abnormal pelvic girdle bone morphology	1073	CFL2	ORPHA:171436
HP:0002644	Abnormal pelvic girdle bone morphology	6536	SLC6A9	OMIM:617301
HP:0002644	Abnormal pelvic girdle bone morphology	16	AARS1	OMIM:616339
HP:0002644	Abnormal pelvic girdle bone morphology	1717	DHCR7	ORPHA:818
HP:0002644	Abnormal pelvic girdle bone morphology	1717	DHCR7	OMIM:270400
HP:0002644	Abnormal pelvic girdle bone morphology	9915	ARNT2	OMIM:615926
HP:0002644	Abnormal pelvic girdle bone morphology	10225	CD96	OMIM:211750
HP:0002644	Abnormal pelvic girdle bone morphology	4626	MYH8	ORPHA:3377
HP:0002644	Abnormal pelvic girdle bone morphology	4626	MYH8	OMIM:158300
HP:0002644	Abnormal pelvic girdle bone morphology	4038	LRP4	ORPHA:3258
HP:0002644	Abnormal pelvic girdle bone morphology	324	APC	ORPHA:3258
HP:0002644	Abnormal pelvic girdle bone morphology	1146	CHRNG	OMIM:265000
HP:0002644	Abnormal pelvic girdle bone morphology	1351	COX8A	OMIM:619059
HP:0002644	Abnormal pelvic girdle bone morphology	3899	AFF3	OMIM:619297
HP:0002644	Abnormal pelvic girdle bone morphology	3572	IL6ST	OMIM:618523
HP:0002644	Abnormal pelvic girdle bone morphology	55699	IARS2	ORPHA:436174
HP:0002644	Abnormal pelvic girdle bone morphology	55699	IARS2	OMIM:616007
HP:0002644	Abnormal pelvic girdle bone morphology	672	BRCA1	ORPHA:84
HP:0002644	Abnormal pelvic girdle bone morphology	10459	MAD2L2	ORPHA:84
HP:0002644	Abnormal pelvic girdle bone morphology	7516	XRCC2	ORPHA:84
HP:0002644	Abnormal pelvic girdle bone morphology	29089	UBE2T	ORPHA:84
HP:0002644	Abnormal pelvic girdle bone morphology	675	BRCA2	ORPHA:84
HP:0002644	Abnormal pelvic girdle bone morphology	55120	FANCL	ORPHA:84
HP:0002644	Abnormal pelvic girdle bone morphology	2177	FANCD2	ORPHA:84
HP:0002644	Abnormal pelvic girdle bone morphology	2175	FANCA	ORPHA:84
HP:0002644	Abnormal pelvic girdle bone morphology	2187	FANCB	ORPHA:84
HP:0002644	Abnormal pelvic girdle bone morphology	2187	FANCB	ORPHA:3412
HP:0002644	Abnormal pelvic girdle bone morphology	2176	FANCC	ORPHA:84
HP:0002644	Abnormal pelvic girdle bone morphology	2178	FANCE	ORPHA:84
HP:0002644	Abnormal pelvic girdle bone morphology	2188	FANCF	ORPHA:84
HP:0002644	Abnormal pelvic girdle bone morphology	2189	FANCG	ORPHA:84
HP:0002644	Abnormal pelvic girdle bone morphology	5888	RAD51	ORPHA:84
HP:0002644	Abnormal pelvic girdle bone morphology	5889	RAD51C	ORPHA:84
HP:0002644	Abnormal pelvic girdle bone morphology	55159	RFWD3	ORPHA:84
HP:0002644	Abnormal pelvic girdle bone morphology	83990	BRIP1	ORPHA:84
HP:0002644	Abnormal pelvic girdle bone morphology	57697	FANCM	ORPHA:84
HP:0002644	Abnormal pelvic girdle bone morphology	79728	PALB2	ORPHA:84
HP:0002644	Abnormal pelvic girdle bone morphology	84464	SLX4	ORPHA:84
HP:0002644	Abnormal pelvic girdle bone morphology	2072	ERCC4	ORPHA:84
HP:0002644	Abnormal pelvic girdle bone morphology	55215	FANCI	ORPHA:84
HP:0002644	Abnormal pelvic girdle bone morphology	1289	COL5A1	ORPHA:287
HP:0002644	Abnormal pelvic girdle bone morphology	1290	COL5A2	ORPHA:287
HP:0002644	Abnormal pelvic girdle bone morphology	57531	HACE1	ORPHA:464282
HP:0002644	Abnormal pelvic girdle bone morphology	57531	HACE1	OMIM:616756
HP:0002644	Abnormal pelvic girdle bone morphology	22872	SEC31A	OMIM:618651
HP:0002644	Abnormal pelvic girdle bone morphology	28514	DLL1	ORPHA:93926
HP:0002644	Abnormal pelvic girdle bone morphology	28514	DLL1	ORPHA:93924
HP:0002644	Abnormal pelvic girdle bone morphology	28514	DLL1	ORPHA:93925
HP:0002644	Abnormal pelvic girdle bone morphology	28514	DLL1	ORPHA:220386
HP:0002644	Abnormal pelvic girdle bone morphology	2253	FGF8	ORPHA:93926
HP:0002644	Abnormal pelvic girdle bone morphology	2253	FGF8	ORPHA:93924
HP:0002644	Abnormal pelvic girdle bone morphology	2253	FGF8	ORPHA:93925
HP:0002644	Abnormal pelvic girdle bone morphology	2253	FGF8	ORPHA:220386
HP:0002644	Abnormal pelvic girdle bone morphology	6496	SIX3	ORPHA:93926
HP:0002644	Abnormal pelvic girdle bone morphology	6496	SIX3	ORPHA:93924
HP:0002644	Abnormal pelvic girdle bone morphology	6496	SIX3	ORPHA:93925
HP:0002644	Abnormal pelvic girdle bone morphology	6496	SIX3	ORPHA:220386
HP:0002644	Abnormal pelvic girdle bone morphology	7050	TGIF1	ORPHA:93926
HP:0002644	Abnormal pelvic girdle bone morphology	7050	TGIF1	ORPHA:93924
HP:0002644	Abnormal pelvic girdle bone morphology	7050	TGIF1	ORPHA:93925
HP:0002644	Abnormal pelvic girdle bone morphology	7050	TGIF1	ORPHA:220386
HP:0002644	Abnormal pelvic girdle bone morphology	4838	NODAL	ORPHA:93926
HP:0002644	Abnormal pelvic girdle bone morphology	4838	NODAL	ORPHA:93924
HP:0002644	Abnormal pelvic girdle bone morphology	4838	NODAL	ORPHA:93925
HP:0002644	Abnormal pelvic girdle bone morphology	4838	NODAL	ORPHA:220386
HP:0002644	Abnormal pelvic girdle bone morphology	6469	SHH	ORPHA:93926
HP:0002644	Abnormal pelvic girdle bone morphology	6469	SHH	ORPHA:93924
HP:0002644	Abnormal pelvic girdle bone morphology	6469	SHH	ORPHA:93925
HP:0002644	Abnormal pelvic girdle bone morphology	6469	SHH	ORPHA:220386
HP:0002644	Abnormal pelvic girdle bone morphology	7546	ZIC2	ORPHA:93926
HP:0002644	Abnormal pelvic girdle bone morphology	7546	ZIC2	ORPHA:93924
HP:0002644	Abnormal pelvic girdle bone morphology	7546	ZIC2	ORPHA:93925
HP:0002644	Abnormal pelvic girdle bone morphology	7546	ZIC2	ORPHA:220386
HP:0002644	Abnormal pelvic girdle bone morphology	6491	STIL	ORPHA:93926
HP:0002644	Abnormal pelvic girdle bone morphology	6491	STIL	ORPHA:93924
HP:0002644	Abnormal pelvic girdle bone morphology	6491	STIL	ORPHA:93925
HP:0002644	Abnormal pelvic girdle bone morphology	6491	STIL	ORPHA:220386
HP:0002644	Abnormal pelvic girdle bone morphology	2619	GAS1	ORPHA:93926
HP:0002644	Abnormal pelvic girdle bone morphology	2619	GAS1	ORPHA:93924
HP:0002644	Abnormal pelvic girdle bone morphology	2619	GAS1	ORPHA:93925
HP:0002644	Abnormal pelvic girdle bone morphology	2619	GAS1	ORPHA:220386
HP:0002644	Abnormal pelvic girdle bone morphology	84976	DISP1	ORPHA:93926
HP:0002644	Abnormal pelvic girdle bone morphology	84976	DISP1	ORPHA:93924
HP:0002644	Abnormal pelvic girdle bone morphology	84976	DISP1	ORPHA:93925
HP:0002644	Abnormal pelvic girdle bone morphology	84976	DISP1	ORPHA:220386
HP:0002644	Abnormal pelvic girdle bone morphology	2736	GLI2	ORPHA:93926
HP:0002644	Abnormal pelvic girdle bone morphology	2736	GLI2	ORPHA:93924
HP:0002644	Abnormal pelvic girdle bone morphology	2736	GLI2	ORPHA:93925
HP:0002644	Abnormal pelvic girdle bone morphology	2736	GLI2	ORPHA:220386
HP:0002644	Abnormal pelvic girdle bone morphology	8928	FOXH1	ORPHA:93926
HP:0002644	Abnormal pelvic girdle bone morphology	8928	FOXH1	ORPHA:93924
HP:0002644	Abnormal pelvic girdle bone morphology	8928	FOXH1	ORPHA:93925
HP:0002644	Abnormal pelvic girdle bone morphology	8928	FOXH1	ORPHA:220386
HP:0002644	Abnormal pelvic girdle bone morphology	6997	CRIPTO	ORPHA:93926
HP:0002644	Abnormal pelvic girdle bone morphology	6997	CRIPTO	ORPHA:93924
HP:0002644	Abnormal pelvic girdle bone morphology	6997	CRIPTO	ORPHA:93925
HP:0002644	Abnormal pelvic girdle bone morphology	6997	CRIPTO	ORPHA:220386
HP:0002644	Abnormal pelvic girdle bone morphology	5727	PTCH1	ORPHA:93926
HP:0002644	Abnormal pelvic girdle bone morphology	5727	PTCH1	ORPHA:93924
HP:0002644	Abnormal pelvic girdle bone morphology	5727	PTCH1	ORPHA:93925
HP:0002644	Abnormal pelvic girdle bone morphology	5727	PTCH1	ORPHA:220386
HP:0002644	Abnormal pelvic girdle bone morphology	50937	CDON	ORPHA:93926
HP:0002644	Abnormal pelvic girdle bone morphology	50937	CDON	ORPHA:93924
HP:0002644	Abnormal pelvic girdle bone morphology	50937	CDON	ORPHA:93925
HP:0002644	Abnormal pelvic girdle bone morphology	50937	CDON	ORPHA:220386
HP:0002644	Abnormal pelvic girdle bone morphology	2260	FGFR1	ORPHA:93924
HP:0002644	Abnormal pelvic girdle bone morphology	2260	FGFR1	ORPHA:220386
HP:0002644	Abnormal pelvic girdle bone morphology	23007	PLCH1	ORPHA:93925
HP:0002644	Abnormal pelvic girdle bone morphology	10735	STAG2	ORPHA:93925
HP:0002644	Abnormal pelvic girdle bone morphology	10735	STAG2	ORPHA:220386
HP:0002644	Abnormal pelvic girdle bone morphology	2697	GJA1	OMIM:164200
HP:0002644	Abnormal pelvic girdle bone morphology	165	AEBP1	ORPHA:536532
HP:0002644	Abnormal pelvic girdle bone morphology	165	AEBP1	OMIM:618000
HP:0002644	Abnormal pelvic girdle bone morphology	85301	COL27A1	OMIM:615155
HP:0002644	Abnormal pelvic girdle bone morphology	3098	HK1	OMIM:618547
HP:0002644	Abnormal pelvic girdle bone morphology	4952	OCRL	OMIM:309000
HP:0002644	Abnormal pelvic girdle bone morphology	4952	OCRL	ORPHA:534
HP:0002644	Abnormal pelvic girdle bone morphology	6558	SLC12A2	OMIM:619083
HP:0002644	Abnormal pelvic girdle bone morphology	3251	HPRT1	OMIM:300322
HP:0002644	Abnormal pelvic girdle bone morphology	23187	PHLDB1	OMIM:620639
HP:0002644	Abnormal pelvic girdle bone morphology	3187	HNRNPH1	OMIM:620083
HP:0002644	Abnormal pelvic girdle bone morphology	3835	KIF22	OMIM:603546
HP:0002644	Abnormal pelvic girdle bone morphology	3835	KIF22	ORPHA:93360
HP:0002644	Abnormal pelvic girdle bone morphology	51651	PTRH2	OMIM:616263
HP:0002644	Abnormal pelvic girdle bone morphology	10516	FBLN5	ORPHA:90348
HP:0002644	Abnormal pelvic girdle bone morphology	10516	FBLN5	ORPHA:90349
HP:0002644	Abnormal pelvic girdle bone morphology	4052	LTBP1	ORPHA:90349
HP:0002644	Abnormal pelvic girdle bone morphology	4052	LTBP1	OMIM:619451
HP:0002644	Abnormal pelvic girdle bone morphology	30008	EFEMP2	ORPHA:90349
HP:0002644	Abnormal pelvic girdle bone morphology	55681	SCYL2	ORPHA:1143
HP:0002644	Abnormal pelvic girdle bone morphology	84570	COL25A1	ORPHA:1143
HP:0002644	Abnormal pelvic girdle bone morphology	57222	ERGIC1	ORPHA:1143
HP:0002644	Abnormal pelvic girdle bone morphology	9939	RBM8A	ORPHA:3320
HP:0002644	Abnormal pelvic girdle bone morphology	9939	RBM8A	OMIM:274000
HP:0002644	Abnormal pelvic girdle bone morphology	9775	EIF4A3	OMIM:268305
HP:0002644	Abnormal pelvic girdle bone morphology	81603	TRIM8	OMIM:619428
HP:0002644	Abnormal pelvic girdle bone morphology	55906	ZC4H2	OMIM:301041
HP:0002644	Abnormal pelvic girdle bone morphology	55906	ZC4H2	OMIM:314580
HP:0002644	Abnormal pelvic girdle bone morphology	9759	HDAC4	OMIM:619797
HP:0002644	Abnormal pelvic girdle bone morphology	579	NKX3-2	OMIM:613330
HP:0002644	Abnormal pelvic girdle bone morphology	90459	ERI1	OMIM:620663
HP:0002644	Abnormal pelvic girdle bone morphology	90459	ERI1	OMIM:620662
HP:0002644	Abnormal pelvic girdle bone morphology	55784	MCTP2	ORPHA:1596
HP:0002644	Abnormal pelvic girdle bone morphology	5831	PYCR1	OMIM:614438
HP:0002644	Abnormal pelvic girdle bone morphology	5831	PYCR1	ORPHA:2078
HP:0002644	Abnormal pelvic girdle bone morphology	51010	EXOSC3	OMIM:614678
HP:0002644	Abnormal pelvic girdle bone morphology	6263	RYR3	OMIM:620310
HP:0002644	Abnormal pelvic girdle bone morphology	2067	ERCC1	OMIM:610758
HP:0002644	Abnormal pelvic girdle bone morphology	23499	MACF1	ORPHA:572013
HP:0002644	Abnormal pelvic girdle bone morphology	387119	CEP85L	ORPHA:572013
HP:0002644	Abnormal pelvic girdle bone morphology	64135	IFIH1	OMIM:182250
HP:0002644	Abnormal pelvic girdle bone morphology	29925	GMPPB	ORPHA:370968
HP:0002644	Abnormal pelvic girdle bone morphology	79147	FKRP	ORPHA:370968
HP:0002644	Abnormal pelvic girdle bone morphology	29954	POMT2	ORPHA:370968
HP:0002644	Abnormal pelvic girdle bone morphology	29954	POMT2	OMIM:613156
HP:0002644	Abnormal pelvic girdle bone morphology	9215	LARGE1	ORPHA:370968
HP:0002644	Abnormal pelvic girdle bone morphology	10585	POMT1	ORPHA:370968
HP:0002644	Abnormal pelvic girdle bone morphology	2530	FUT8	OMIM:618005
HP:0002644	Abnormal pelvic girdle bone morphology	64131	XYLT1	OMIM:615777
HP:0002644	Abnormal pelvic girdle bone morphology	29920	PYCR2	ORPHA:481152
HP:0002644	Abnormal pelvic girdle bone morphology	6678	SPARC	OMIM:616507
HP:0002644	Abnormal pelvic girdle bone morphology	5351	PLOD1	ORPHA:1900
HP:0002644	Abnormal pelvic girdle bone morphology	64093	SMOC1	ORPHA:1106
HP:0002644	Abnormal pelvic girdle bone morphology	64093	SMOC1	OMIM:206920
HP:0002644	Abnormal pelvic girdle bone morphology	25778	DSTYK	ORPHA:101003
HP:0002644	Abnormal pelvic girdle bone morphology	2743	GLRB	ORPHA:3197
HP:0002644	Abnormal pelvic girdle bone morphology	2741	GLRA1	ORPHA:3197
HP:0002644	Abnormal pelvic girdle bone morphology	2741	GLRA1	OMIM:149400
HP:0002644	Abnormal pelvic girdle bone morphology	10243	GPHN	ORPHA:3197
HP:0002644	Abnormal pelvic girdle bone morphology	10243	GPHN	OMIM:149400
HP:0002644	Abnormal pelvic girdle bone morphology	84896	ATAD1	ORPHA:3197
HP:0002644	Abnormal pelvic girdle bone morphology	9152	SLC6A5	ORPHA:3197
HP:0002644	Abnormal pelvic girdle bone morphology	26175	LYSET	OMIM:619345
HP:0002644	Abnormal pelvic girdle bone morphology	9451	EIF2AK3	OMIM:226980
HP:0002644	Abnormal pelvic girdle bone morphology	55644	OSGEP	OMIM:617729
HP:0002644	Abnormal pelvic girdle bone morphology	2313	FLI1	ORPHA:2308
HP:0002644	Abnormal pelvic girdle bone morphology	1861	TOR1A	OMIM:618947
HP:0002644	Abnormal pelvic girdle bone morphology	6608	SMO	OMIM:241800
HP:0002644	Abnormal pelvic girdle bone morphology	4796	TONSL	ORPHA:93357
HP:0002644	Abnormal pelvic girdle bone morphology	207	AKT1	ORPHA:744
HP:0002644	Abnormal pelvic girdle bone morphology	10269	ZMPSTE24	ORPHA:740
HP:0002644	Abnormal pelvic girdle bone morphology	23233	EXOC6B	OMIM:618395
HP:0002644	Abnormal pelvic girdle bone morphology	113246	C12orf57	OMIM:218340
HP:0002644	Abnormal pelvic girdle bone morphology	92344	GORAB	ORPHA:2078
HP:0002644	Abnormal pelvic girdle bone morphology	9469	CHST3	OMIM:245600
HP:0002644	Abnormal pelvic girdle bone morphology	26229	B3GAT3	OMIM:245600
HP:0002644	Abnormal pelvic girdle bone morphology	6913	TBX15	OMIM:260660
HP:0002644	Abnormal pelvic girdle bone morphology	10013	HDAC6	ORPHA:163966
HP:0002644	Abnormal pelvic girdle bone morphology	10013	HDAC6	OMIM:300863
HP:0002644	Abnormal pelvic girdle bone morphology	2146	EZH2	OMIM:277590
HP:0002644	Abnormal pelvic girdle bone morphology	147372	CCBE1	OMIM:235510
HP:0002644	Abnormal pelvic girdle bone morphology	1513	CTSK	ORPHA:763
HP:0002644	Abnormal pelvic girdle bone morphology	8726	EED	OMIM:617561
HP:0002644	Abnormal pelvic girdle bone morphology	54101	RIPK4	OMIM:263650
HP:0002644	Abnormal pelvic girdle bone morphology	23556	PIGN	OMIM:614080
HP:0002644	Abnormal pelvic girdle bone morphology	6197	RPS6KA3	OMIM:303600
HP:0002644	Abnormal pelvic girdle bone morphology	6197	RPS6KA3	ORPHA:192
HP:0002644	Abnormal pelvic girdle bone morphology	10484	SEC23A	OMIM:607812
HP:0002644	Abnormal pelvic girdle bone morphology	9871	SEC24D	OMIM:616294
HP:0002644	Abnormal pelvic girdle bone morphology	84572	GNPTG	OMIM:252605
HP:0002644	Abnormal pelvic girdle bone morphology	79848	CSPP1	ORPHA:397715
HP:0002644	Abnormal pelvic girdle bone morphology	9786	KIAA0586	ORPHA:397715
HP:0002644	Abnormal pelvic girdle bone morphology	91147	TMEM67	ORPHA:140976
HP:0002644	Abnormal pelvic girdle bone morphology	3373	HYAL1	ORPHA:67041
HP:0002644	Abnormal pelvic girdle bone morphology	60561	RINT1	OMIM:618641
HP:0002644	Abnormal pelvic girdle bone morphology	100151683	RNU4ATAC	ORPHA:2636
HP:0002644	Abnormal pelvic girdle bone morphology	2316	FLNA	ORPHA:2484
HP:0002644	Abnormal pelvic girdle bone morphology	4089	SMAD4	ORPHA:2588
HP:0002644	Abnormal pelvic girdle bone morphology	112752	IFT43	OMIM:617866
HP:0002644	Abnormal pelvic girdle bone morphology	83879	CDCA7	OMIM:616910
HP:0002644	Abnormal pelvic girdle bone morphology	5331	PLCB3	OMIM:618961
HP:0002644	Abnormal pelvic girdle bone morphology	51025	PAM16	OMIM:613320
HP:0002644	Abnormal pelvic girdle bone morphology	9382	COG1	OMIM:611209
HP:0002644	Abnormal pelvic girdle bone morphology	4088	SMAD3	ORPHA:284984
HP:0002644	Abnormal pelvic girdle bone morphology	4088	SMAD3	OMIM:613795
HP:0002644	Abnormal pelvic girdle bone morphology	2200	FBN1	OMIM:154700
HP:0002644	Abnormal pelvic girdle bone morphology	5176	SERPINF1	OMIM:613982
HP:0002644	Abnormal pelvic girdle bone morphology	10491	CRTAP	OMIM:610682
HP:0002644	Abnormal pelvic girdle bone morphology	7048	TGFBR2	OMIM:610168
HP:0002644	Abnormal pelvic girdle bone morphology	7042	TGFB2	OMIM:614816
HP:0002644	Abnormal pelvic girdle bone morphology	83452	RAB33B	OMIM:615222
HP:0002644	Abnormal pelvic girdle bone morphology	51098	IFT52	OMIM:617102
HP:0002644	Abnormal pelvic girdle bone morphology	55790	CSGALNACT1	OMIM:618870
HP:0002644	Abnormal pelvic girdle bone morphology	51715	RAB23	OMIM:201000
HP:0002644	Abnormal pelvic girdle bone morphology	649	BMP1	OMIM:614856
HP:0002644	Abnormal pelvic girdle bone morphology	341640	FREM2	ORPHA:2052
HP:0002644	Abnormal pelvic girdle bone morphology	80144	FRAS1	ORPHA:2052
HP:0002644	Abnormal pelvic girdle bone morphology	80144	FRAS1	OMIM:219000
HP:0002644	Abnormal pelvic girdle bone morphology	23426	GRIP1	ORPHA:2052
HP:0002644	Abnormal pelvic girdle bone morphology	2719	GPC3	OMIM:312870
HP:0002644	Abnormal pelvic girdle bone morphology	2239	GPC4	OMIM:312870
HP:0002644	Abnormal pelvic girdle bone morphology	6335	SCN9A	ORPHA:970
HP:0002644	Abnormal pelvic girdle bone morphology	65125	WNK1	ORPHA:970
HP:0002644	Abnormal pelvic girdle bone morphology	54463	RETREG1	ORPHA:970
HP:0002644	Abnormal pelvic girdle bone morphology	547	KIF1A	ORPHA:970
HP:0002644	Abnormal pelvic girdle bone morphology	7421	VDR	ORPHA:93160
HP:0002644	Abnormal pelvic girdle bone morphology	157680	VPS13B	ORPHA:193
HP:0002644	Abnormal pelvic girdle bone morphology	89970	RSPRY1	ORPHA:457395
HP:0002644	Abnormal pelvic girdle bone morphology	7140	TNNT3	ORPHA:1147
HP:0002644	Abnormal pelvic girdle bone morphology	7140	TNNT3	ORPHA:1146
HP:0002644	Abnormal pelvic girdle bone morphology	4621	MYH3	ORPHA:1147
HP:0002644	Abnormal pelvic girdle bone morphology	4621	MYH3	ORPHA:1146
HP:0002644	Abnormal pelvic girdle bone morphology	7169	TPM2	ORPHA:1147
HP:0002644	Abnormal pelvic girdle bone morphology	7169	TPM2	ORPHA:1146
HP:0002644	Abnormal pelvic girdle bone morphology	259232	NALCN	ORPHA:1147
HP:0002644	Abnormal pelvic girdle bone morphology	259232	NALCN	ORPHA:1146
HP:0002644	Abnormal pelvic girdle bone morphology	7136	TNNI2	ORPHA:1147
HP:0002644	Abnormal pelvic girdle bone morphology	7136	TNNI2	ORPHA:1146
HP:0002644	Abnormal pelvic girdle bone morphology	4604	MYBPC1	ORPHA:1146
HP:0002644	Abnormal pelvic girdle bone morphology	2733	GLE1	ORPHA:1486
HP:0002644	Abnormal pelvic girdle bone morphology	23314	SATB2	ORPHA:251028
HP:0002644	Abnormal pelvic girdle bone morphology	658	BMPR1B	ORPHA:2639
HP:0002644	Abnormal pelvic girdle bone morphology	64359	NXN	ORPHA:1507
HP:0002644	Abnormal pelvic girdle bone morphology	4920	ROR2	ORPHA:1507
HP:0002644	Abnormal pelvic girdle bone morphology	84295	PHF6	ORPHA:127
HP:0002644	Abnormal pelvic girdle bone morphology	5184	PEPD	ORPHA:742
HP:0002644	Abnormal pelvic girdle bone morphology	9897	WASHC5	ORPHA:7
HP:0002644	Abnormal pelvic girdle bone morphology	28952	CCDC22	ORPHA:7
HP:0002644	Abnormal pelvic girdle bone morphology	57020	VPS35L	ORPHA:7
HP:0002644	Abnormal pelvic girdle bone morphology	56896	DPYSL5	ORPHA:7
HP:0002644	Abnormal pelvic girdle bone morphology	2990	GUSB	ORPHA:584
HP:0002644	Abnormal pelvic girdle bone morphology	4914	NTRK1	ORPHA:642
HP:0002644	Abnormal pelvic girdle bone morphology	170302	ARX	ORPHA:2508
HP:0002644	Abnormal pelvic girdle bone morphology	54808	DYM	ORPHA:239
HP:0002644	Abnormal pelvic girdle bone morphology	9653	HS2ST1	OMIM:619194
HP:0002644	Abnormal pelvic girdle bone morphology	274	BIN1	ORPHA:169186
HP:0002644	Abnormal pelvic girdle bone morphology	10290	SPEG	ORPHA:169186
HP:0002644	Abnormal pelvic girdle bone morphology	10290	SPEG	OMIM:615959
HP:0002644	Abnormal pelvic girdle bone morphology	6261	RYR1	ORPHA:169186
HP:0002644	Abnormal pelvic girdle bone morphology	4593	MUSK	OMIM:208150
HP:0002644	Abnormal pelvic girdle bone morphology	29895	MYL11	OMIM:619110
HP:0002644	Abnormal pelvic girdle bone morphology	6885	MAP3K7	OMIM:617137
HP:0002644	Abnormal pelvic girdle bone morphology	9894	TELO2	ORPHA:488642
HP:0002644	Abnormal pelvic girdle bone morphology	285175	UNC80	OMIM:616801
HP:0002644	Abnormal pelvic girdle bone morphology	285175	UNC80	ORPHA:371364
HP:0002644	Abnormal pelvic girdle bone morphology	7138	TNNT1	OMIM:620386
HP:0002644	Abnormal pelvic girdle bone morphology	7138	TNNT1	ORPHA:98902
HP:0002644	Abnormal pelvic girdle bone morphology	7138	TNNT1	OMIM:605355
HP:0002644	Abnormal pelvic girdle bone morphology	64324	NSD1	ORPHA:821
HP:0002644	Abnormal pelvic girdle bone morphology	10297	APC2	ORPHA:821
HP:0002644	Abnormal pelvic girdle bone morphology	11160	ERLIN2	ORPHA:209951
HP:0002644	Abnormal pelvic girdle bone morphology	2617	GARS1	OMIM:619042
HP:0002644	Abnormal pelvic girdle bone morphology	23522	KAT6B	ORPHA:85201
HP:0002644	Abnormal pelvic girdle bone morphology	23522	KAT6B	OMIM:606170
HP:0002644	Abnormal pelvic girdle bone morphology	163175	LGI4	OMIM:617468
HP:0002644	Abnormal pelvic girdle bone morphology	2201	FBN2	OMIM:121050
HP:0002644	Abnormal pelvic girdle bone morphology	60681	FKBP10	OMIM:259450
HP:0002644	Abnormal pelvic girdle bone morphology	4773	NFATC2	OMIM:620232
HP:0002644	Abnormal pelvic girdle bone morphology	6329	SCN4A	OMIM:620351
HP:0002644	Abnormal pelvic girdle bone morphology	6329	SCN4A	OMIM:620369
HP:0002644	Abnormal pelvic girdle bone morphology	87178	PNPT1	ORPHA:319514
HP:0002644	Abnormal pelvic girdle bone morphology	84068	SLC10A7	OMIM:618363
HP:0002644	Abnormal pelvic girdle bone morphology	2157	F8	ORPHA:169805
HP:0002644	Abnormal pelvic girdle bone morphology	7317	UBA1	ORPHA:1145
HP:0002644	Abnormal pelvic girdle bone morphology	4313	MMP2	OMIM:259600
HP:0002644	Abnormal pelvic girdle bone morphology	4633	MYL2	ORPHA:2020
HP:0002644	Abnormal pelvic girdle bone morphology	3679	ITGA7	ORPHA:2020
HP:0002644	Abnormal pelvic girdle bone morphology	9200	HACD1	ORPHA:2020
HP:0002644	Abnormal pelvic girdle bone morphology	7170	TPM3	ORPHA:2020
HP:0002644	Abnormal pelvic girdle bone morphology	51776	MAP3K20	ORPHA:2020
HP:0002644	Abnormal pelvic girdle bone morphology	5297	PI4KA	OMIM:619621
HP:0002644	Abnormal pelvic girdle bone morphology	54681	P4HTM	OMIM:618493
HP:0002644	Abnormal pelvic girdle bone morphology	5277	PIGA	OMIM:300868
HP:0002644	Abnormal pelvic girdle bone morphology	2783	GNB2	OMIM:619503
HP:0002644	Abnormal pelvic girdle bone morphology	4632	MYL1	OMIM:618414
HP:0002644	Abnormal pelvic girdle bone morphology	27145	FILIP1	OMIM:620775
HP:0002644	Abnormal pelvic girdle bone morphology	3911	LAMA5	OMIM:620076
HP:0002644	Abnormal pelvic girdle bone morphology	5745	PTH1R	ORPHA:79106
HP:0002644	Abnormal pelvic girdle bone morphology	5745	PTH1R	OMIM:600002
HP:0002644	Abnormal pelvic girdle bone morphology	633	BGN	OMIM:300106
HP:0002644	Abnormal pelvic girdle bone morphology	5447	POR	OMIM:207410
HP:0002644	Abnormal pelvic girdle bone morphology	5447	POR	ORPHA:95699
HP:0002644	Abnormal pelvic girdle bone morphology	168667	BMPER	ORPHA:66637
HP:0002644	Abnormal pelvic girdle bone morphology	168667	BMPER	OMIM:608022
HP:0002644	Abnormal pelvic girdle bone morphology	3425	IDUA	ORPHA:93473
HP:0002644	Abnormal pelvic girdle bone morphology	2588	GALNS	OMIM:253000
HP:0002644	Abnormal pelvic girdle bone morphology	9321	TRIP11	ORPHA:166272
HP:0002644	Abnormal pelvic girdle bone morphology	6399	TRAPPC2	ORPHA:93284
HP:0002644	Abnormal pelvic girdle bone morphology	1297	COL9A1	OMIM:614135
HP:0002644	Abnormal pelvic girdle bone morphology	1297	COL9A1	ORPHA:166002
HP:0002644	Abnormal pelvic girdle bone morphology	567	B2M	ORPHA:314652
HP:0002644	Abnormal pelvic girdle bone morphology	65992	DDRGK1	OMIM:602557
HP:0002644	Abnormal pelvic girdle bone morphology	755	CFAP410	OMIM:602271
HP:0002644	Abnormal pelvic girdle bone morphology	145258	GSC	OMIM:602471
HP:0002644	Abnormal pelvic girdle bone morphology	79796	ALG9	ORPHA:79328
HP:0002644	Abnormal pelvic girdle bone morphology	79796	ALG9	OMIM:263210
HP:0002644	Abnormal pelvic girdle bone morphology	1301	COL11A1	OMIM:228520
HP:0002644	Abnormal pelvic girdle bone morphology	5130	PCYT1A	ORPHA:85167
HP:0002644	Abnormal pelvic girdle bone morphology	5130	PCYT1A	OMIM:608940
HP:0002644	Abnormal pelvic girdle bone morphology	6729	SRP54	OMIM:260400
HP:0002644	Abnormal pelvic girdle bone morphology	51119	SBDS	OMIM:260400
HP:0002644	Abnormal pelvic girdle bone morphology	134218	DNAJC21	OMIM:260400
HP:0002644	Abnormal pelvic girdle bone morphology	27152	INTU	OMIM:617925
HP:0002644	Abnormal pelvic girdle bone morphology	2879	GPX4	OMIM:250220
HP:0002644	Abnormal pelvic girdle bone morphology	3417	IDH1	ORPHA:99646
HP:0002644	Abnormal pelvic girdle bone morphology	57477	SHROOM4	ORPHA:85288
HP:0002644	Abnormal pelvic girdle bone morphology	2192	FBLN1	ORPHA:404451
HP:0002644	Abnormal pelvic girdle bone morphology	8218	CLTCL1	ORPHA:453510
HP:0002644	Abnormal pelvic girdle bone morphology	10804	GJB6	ORPHA:477
HP:0002644	Abnormal pelvic girdle bone morphology	2706	GJB2	ORPHA:477
HP:0002644	Abnormal pelvic girdle bone morphology	23387	SIK3	OMIM:618162
HP:0002644	Abnormal pelvic girdle bone morphology	865	CBFB	OMIM:620099
HP:0002644	Abnormal pelvic girdle bone morphology	3459	IFNGR1	OMIM:209950
HP:0002644	Abnormal pelvic girdle bone morphology	10940	POP1	OMIM:617396
HP:0002644	Abnormal pelvic girdle bone morphology	26146	TRAF3IP1	OMIM:616629
HP:0002644	Abnormal pelvic girdle bone morphology	10717	AP4B1	ORPHA:280763
HP:0002644	Abnormal pelvic girdle bone morphology	10717	AP4B1	OMIM:614066
HP:0002644	Abnormal pelvic girdle bone morphology	9179	AP4M1	ORPHA:280763
HP:0002644	Abnormal pelvic girdle bone morphology	11154	AP4S1	ORPHA:280763
HP:0002644	Abnormal pelvic girdle bone morphology	23431	AP4E1	ORPHA:280763
HP:0002644	Abnormal pelvic girdle bone morphology	25885	POLR1A	OMIM:616462
HP:0002644	Abnormal pelvic girdle bone morphology	84700	MYO18B	OMIM:616549
HP:0002644	Abnormal pelvic girdle bone morphology	8546	AP3B1	OMIM:608233
HP:0002644	Abnormal pelvic girdle bone morphology	29928	TIMM22	OMIM:618851
HP:0002644	Abnormal pelvic girdle bone morphology	6210	RPS15A	OMIM:618313
HP:0002644	Abnormal pelvic girdle bone morphology	65082	VPS33A	OMIM:617303
HP:0002644	Abnormal pelvic girdle bone morphology	139285	AMER1	ORPHA:2780
HP:0002644	Abnormal pelvic girdle bone morphology	4125	MAN2B1	ORPHA:309282
HP:0002644	Abnormal pelvic girdle bone morphology	54872	PIGG	ORPHA:280
HP:0002644	Abnormal pelvic girdle bone morphology	7469	NELFA	ORPHA:280
HP:0002644	Abnormal pelvic girdle bone morphology	2074	ERCC6	OMIM:133540
HP:0002644	Abnormal pelvic girdle bone morphology	64840	PORCN	ORPHA:2092
HP:0002644	Abnormal pelvic girdle bone morphology	50485	SMARCAL1	ORPHA:1830
HP:0002644	Abnormal pelvic girdle bone morphology	50814	NSDHL	OMIM:308050
HP:0002644	Abnormal pelvic girdle bone morphology	9820	CUL7	ORPHA:2616
HP:0002644	Abnormal pelvic girdle bone morphology	9820	CUL7	OMIM:273750
HP:0002644	Abnormal pelvic girdle bone morphology	23363	OBSL1	ORPHA:2616
HP:0002644	Abnormal pelvic girdle bone morphology	25886	POC1A	OMIM:614813
HP:0002644	Abnormal pelvic girdle bone morphology	1161	ERCC8	OMIM:216400
HP:0002644	Abnormal pelvic girdle bone morphology	7476	WNT7A	ORPHA:2879
HP:0002644	Abnormal pelvic girdle bone morphology	7473	WNT3	ORPHA:3301
HP:0002644	Abnormal pelvic girdle bone morphology	340419	RSPO2	ORPHA:3301
HP:0002644	Abnormal pelvic girdle bone morphology	23592	LEMD3	ORPHA:166119
HP:0002644	Abnormal pelvic girdle bone morphology	57539	WDR35	ORPHA:93271
HP:0002644	Abnormal pelvic girdle bone morphology	3930	LBR	ORPHA:1426
HP:0002644	Abnormal pelvic girdle bone morphology	4010	LMX1B	ORPHA:2614
HP:0002644	Abnormal pelvic girdle bone morphology	4010	LMX1B	OMIM:161200
HP:0002644	Abnormal pelvic girdle bone morphology	255758	DYNLT2B	OMIM:617405
HP:0002644	Abnormal pelvic girdle bone morphology	55835	CPAP	OMIM:613676
HP:0002644	Abnormal pelvic girdle bone morphology	3106	HLA-B	ORPHA:29207
HP:0002644	Abnormal pelvic girdle bone morphology	3106	HLA-B	OMIM:106300
HP:0002644	Abnormal pelvic girdle bone morphology	4921	DDR2	OMIM:271665
HP:0002644	Abnormal pelvic girdle bone morphology	7355	SLC35A2	ORPHA:356961
HP:0002644	Abnormal pelvic girdle bone morphology	55628	ZNF407	OMIM:619557
HP:0002644	Abnormal pelvic girdle bone morphology	51608	GET4	OMIM:620200
HP:0002644	Abnormal pelvic girdle bone morphology	28962	OSTM1	OMIM:259720
HP:0002644	Abnormal pelvic girdle bone morphology	27125	AFF4	ORPHA:444077
HP:0002644	Abnormal pelvic girdle bone morphology	84823	LMNB2	OMIM:619180
HP:0002644	Abnormal pelvic girdle bone morphology	51112	TRAPPC12	ORPHA:500144
HP:0002644	Abnormal pelvic girdle bone morphology	29998	BICRA	OMIM:619325
HP:0002644	Abnormal pelvic girdle bone morphology	25871	NEPRO	OMIM:618853
HP:0002644	Abnormal pelvic girdle bone morphology	9842	PLEKHM1	OMIM:611497
HP:0002644	Abnormal pelvic girdle bone morphology	26123	TCTN3	OMIM:614815
HP:0002644	Abnormal pelvic girdle bone morphology	2131	EXT1	ORPHA:321
HP:0002644	Abnormal pelvic girdle bone morphology	2132	EXT2	ORPHA:321
HP:0002644	Abnormal pelvic girdle bone morphology	9896	FIG4	ORPHA:3472
HP:0002644	Abnormal pelvic girdle bone morphology	55697	VAC14	ORPHA:3472
HP:0002644	Abnormal pelvic girdle bone morphology	51360	MBTPS2	ORPHA:2273
HP:0002644	Abnormal pelvic girdle bone morphology	1302	COL11A2	ORPHA:1427
HP:0002644	Abnormal pelvic girdle bone morphology	5479	PPIB	OMIM:259440
HP:0002644	Abnormal pelvic girdle bone morphology	117581	TWIST2	ORPHA:1807
HP:0002644	Abnormal pelvic girdle bone morphology	7132	TNFRSF1A	ORPHA:32960
HP:0002644	Abnormal pelvic girdle bone morphology	1758	DMP1	ORPHA:289176
HP:0002644	Abnormal pelvic girdle bone morphology	2335	FN1	OMIM:184255
HP:0002644	Abnormal pelvic girdle bone morphology	9131	AIFM1	OMIM:300232
HP:0002644	Abnormal pelvic girdle bone morphology	8720	MBTPS1	OMIM:618392
HP:0002644	Abnormal pelvic girdle bone morphology	10651	MTX2	OMIM:619127
HP:0002644	Abnormal pelvic girdle bone morphology	10216	PRG4	ORPHA:2848
HP:0002644	Abnormal pelvic girdle bone morphology	124583	CANT1	OMIM:251450
HP:0002644	Abnormal pelvic girdle bone morphology	124583	CANT1	OMIM:617719
HP:0002644	Abnormal pelvic girdle bone morphology	4318	MMP9	OMIM:613073
HP:0002644	Abnormal pelvic girdle bone morphology	5286	PIK3C2A	OMIM:618440
HP:0002644	Abnormal pelvic girdle bone morphology	1108	CHD4	OMIM:617159
HP:0002644	Abnormal pelvic girdle bone morphology	54187	NANS	OMIM:610442
HP:0002644	Abnormal pelvic girdle bone morphology	91252	SLC39A13	ORPHA:157965
HP:0002644	Abnormal pelvic girdle bone morphology	91252	SLC39A13	OMIM:612350
HP:0002644	Abnormal pelvic girdle bone morphology	3549	IHH	OMIM:607778
HP:0002644	Abnormal pelvic girdle bone morphology	80169	CTC1	OMIM:612199
HP:0002644	Abnormal pelvic girdle bone morphology	5830	PEX5	OMIM:616716
HP:0002644	Abnormal pelvic girdle bone morphology	79639	TMEM53	OMIM:619727
HP:0002644	Abnormal pelvic girdle bone morphology	3977	LIFR	OMIM:601559
HP:0002644	Abnormal pelvic girdle bone morphology	1235	CCR6	ORPHA:220393
HP:0002644	Abnormal pelvic girdle bone morphology	1235	CCR6	ORPHA:220402
HP:0002644	Abnormal pelvic girdle bone morphology	1490	CCN2	ORPHA:220393
HP:0002644	Abnormal pelvic girdle bone morphology	1490	CCN2	ORPHA:220402
HP:0002644	Abnormal pelvic girdle bone morphology	3663	IRF5	ORPHA:220393
HP:0002644	Abnormal pelvic girdle bone morphology	3663	IRF5	ORPHA:220402
HP:0002644	Abnormal pelvic girdle bone morphology	857	CAV1	ORPHA:220393
HP:0002644	Abnormal pelvic girdle bone morphology	857	CAV1	ORPHA:220402
HP:0002644	Abnormal pelvic girdle bone morphology	3123	HLA-DRB1	ORPHA:220393
HP:0002644	Abnormal pelvic girdle bone morphology	3123	HLA-DRB1	ORPHA:220402
HP:0002644	Abnormal pelvic girdle bone morphology	79932	KIAA0319L	ORPHA:220402
HP:0002644	Abnormal pelvic girdle bone morphology	2778	GNAS	OMIM:174800
HP:0002645	Wormian bones	9131	AIFM1	OMIM:300232
HP:0002645	Wormian bones	10269	ZMPSTE24	OMIM:608612
HP:0002645	Wormian bones	79879	CCDC134	OMIM:619795
HP:0002645	Wormian bones	5034	P4HB	OMIM:112240
HP:0002645	Wormian bones	5034	P4HB	ORPHA:2050
HP:0002645	Wormian bones	10491	CRTAP	ORPHA:2050
HP:0002645	Wormian bones	10491	CRTAP	OMIM:610682
HP:0002645	Wormian bones	9871	SEC24D	ORPHA:2050
HP:0002645	Wormian bones	9871	SEC24D	OMIM:616294
HP:0002645	Wormian bones	6608	SMO	OMIM:601707
HP:0002645	Wormian bones	23126	POGZ	OMIM:616364
HP:0002645	Wormian bones	5593	PRKG2	OMIM:619638
HP:0002645	Wormian bones	5832	ALDH18A1	OMIM:616603
HP:0002645	Wormian bones	5832	ALDH18A1	OMIM:219150
HP:0002645	Wormian bones	5832	ALDH18A1	ORPHA:90348
HP:0002645	Wormian bones	538	ATP7A	OMIM:309400
HP:0002645	Wormian bones	538	ATP7A	ORPHA:565
HP:0002645	Wormian bones	90459	ERI1	OMIM:620663
HP:0002645	Wormian bones	90459	ERI1	OMIM:620662
HP:0002645	Wormian bones	5352	PLOD2	ORPHA:2771
HP:0002645	Wormian bones	5352	PLOD2	OMIM:609220
HP:0002645	Wormian bones	60681	FKBP10	ORPHA:2771
HP:0002645	Wormian bones	60681	FKBP10	OMIM:610968
HP:0002645	Wormian bones	1277	COL1A1	OMIM:259420
HP:0002645	Wormian bones	1277	COL1A1	OMIM:166200
HP:0002645	Wormian bones	1277	COL1A1	OMIM:166210
HP:0002645	Wormian bones	1277	COL1A1	OMIM:166220
HP:0002645	Wormian bones	1278	COL1A2	OMIM:259420
HP:0002645	Wormian bones	1278	COL1A2	OMIM:617821
HP:0002645	Wormian bones	1278	COL1A2	OMIM:166210
HP:0002645	Wormian bones	1278	COL1A2	OMIM:166220
HP:0002645	Wormian bones	3248	HPGD	OMIM:259100
HP:0002645	Wormian bones	27125	AFF4	ORPHA:444077
HP:0002645	Wormian bones	221496	LEMD2	OMIM:619322
HP:0002645	Wormian bones	285590	SH3PXD2B	OMIM:249420
HP:0002645	Wormian bones	4854	NOTCH3	OMIM:130720
HP:0002645	Wormian bones	4854	NOTCH3	ORPHA:2789
HP:0002645	Wormian bones	5159	PDGFRB	OMIM:601812
HP:0002645	Wormian bones	202018	TAPT1	OMIM:616897
HP:0002645	Wormian bones	4000	LMNA	OMIM:248370
HP:0002645	Wormian bones	4000	LMNA	ORPHA:90153
HP:0002645	Wormian bones	388015	RTL1	ORPHA:96334
HP:0002645	Wormian bones	8788	DLK1	ORPHA:96334
HP:0002645	Wormian bones	55384	MEG3	ORPHA:96334
HP:0002645	Wormian bones	2316	FLNA	OMIM:304120
HP:0002645	Wormian bones	4488	MSX2	OMIM:168500
HP:0002645	Wormian bones	4488	MSX2	OMIM:604757
HP:0002645	Wormian bones	4750	NEK1	OMIM:252100
HP:0002645	Wormian bones	64175	P3H1	OMIM:610915
HP:0002645	Wormian bones	6335	SCN9A	ORPHA:970
HP:0002645	Wormian bones	65125	WNK1	ORPHA:970
HP:0002645	Wormian bones	54463	RETREG1	ORPHA:970
HP:0002645	Wormian bones	547	KIF1A	ORPHA:970
HP:0002645	Wormian bones	4784	NFIX	OMIM:602535
HP:0002645	Wormian bones	1513	CTSK	OMIM:265800
HP:0002645	Wormian bones	1513	CTSK	ORPHA:763
HP:0002645	Wormian bones	11014	KDELR2	OMIM:619131
HP:0002645	Wormian bones	55603	TENT5A	OMIM:617952
HP:0002645	Wormian bones	23545	ATP6V0A2	ORPHA:2834
HP:0002645	Wormian bones	23545	ATP6V0A2	OMIM:278250
HP:0002645	Wormian bones	4853	NOTCH2	OMIM:102500
HP:0002645	Wormian bones	4853	NOTCH2	ORPHA:955
HP:0002645	Wormian bones	64919	BCL11B	OMIM:617237
HP:0002645	Wormian bones	2006	ELN	ORPHA:90348
HP:0002645	Wormian bones	10516	FBLN5	ORPHA:90348
HP:0002645	Wormian bones	1108	CHD4	OMIM:617159
HP:0002645	Wormian bones	5831	PYCR1	OMIM:612940
HP:0002645	Wormian bones	23184	MESD	OMIM:618644
HP:0002645	Wormian bones	90993	CREB3L1	OMIM:616229
HP:0002645	Wormian bones	5479	PPIB	OMIM:259440
HP:0002645	Wormian bones	92344	GORAB	OMIM:231070
HP:0002645	Wormian bones	387733	IFITM5	OMIM:610967
HP:0002645	Wormian bones	3339	HSPG2	ORPHA:800
HP:0002645	Wormian bones	860	RUNX2	OMIM:119600
HP:0002645	Wormian bones	860	RUNX2	ORPHA:1452
HP:0002645	Wormian bones	55151	TMEM38B	OMIM:615066
HP:0002645	Wormian bones	7067	THRA	OMIM:614450
HP:0002645	Wormian bones	4041	LRP5	ORPHA:2788
HP:0002645	Wormian bones	51025	PAM16	OMIM:613320
HP:0002645	Wormian bones	649	BMP1	OMIM:614856
HP:0002645	Wormian bones	196528	ARID2	OMIM:617808
HP:0002645	Wormian bones	26040	SETBP1	OMIM:269150
HP:0002645	Wormian bones	26040	SETBP1	ORPHA:798
HP:0002645	Wormian bones	121340	SP7	OMIM:613849
HP:0004492	Widely patent fontanelles and sutures	1636	ACE	OMIM:267430
HP:0004492	Widely patent fontanelles and sutures	183	AGT	OMIM:267430
HP:0004492	Widely patent fontanelles and sutures	185	AGTR1	OMIM:267430
HP:0004492	Widely patent fontanelles and sutures	5972	REN	OMIM:267430
HP:0004492	Widely patent fontanelles and sutures	249	ALPL	OMIM:241500
HP:0004492	Widely patent fontanelles and sutures	1594	CYP27B1	OMIM:264700
HP:0004492	Widely patent fontanelles and sutures	142680	SLC34A3	OMIM:241530
HP:0004492	Widely patent fontanelles and sutures	7421	VDR	OMIM:277440
HP:0004492	Widely patent fontanelles and sutures	9968	MED12	ORPHA:93932
HP:0004492	Widely patent fontanelles and sutures	4000	LMNA	ORPHA:1662
HP:0004492	Widely patent fontanelles and sutures	10269	ZMPSTE24	ORPHA:1662
HP:0004492	Widely patent fontanelles and sutures	4488	MSX2	OMIM:168550
HP:0004492	Widely patent fontanelles and sutures	120227	CYP2R1	OMIM:600081
HP:0004492	Widely patent fontanelles and sutures	26040	SETBP1	OMIM:269150
HP:0004492	Widely patent fontanelles and sutures	11128	POLR3A	OMIM:264090
HP:0004492	Widely patent fontanelles and sutures	11128	POLR3A	ORPHA:3455
HP:0004492	Widely patent fontanelles and sutures	5189	PEX1	OMIM:214100
HP:0004492	Widely patent fontanelles and sutures	8241	RBM10	ORPHA:2886
HP:0002683	Abnormal calvaria morphology	9526	MPDU1	OMIM:609180
HP:0002683	Abnormal calvaria morphology	9526	MPDU1	ORPHA:79323
HP:0002683	Abnormal calvaria morphology	60	ACTB	OMIM:243310
HP:0002683	Abnormal calvaria morphology	60	ACTB	ORPHA:2995
HP:0002683	Abnormal calvaria morphology	23394	ADNP	ORPHA:404448
HP:0002683	Abnormal calvaria morphology	5977	DPF2	OMIM:618027
HP:0002683	Abnormal calvaria morphology	71	ACTG1	OMIM:614583
HP:0002683	Abnormal calvaria morphology	71	ACTG1	ORPHA:2995
HP:0002683	Abnormal calvaria morphology	3590	IL11RA	OMIM:614188
HP:0002683	Abnormal calvaria morphology	5530	PPP3CA	OMIM:618265
HP:0002683	Abnormal calvaria morphology	26005	C2CD3	ORPHA:434179
HP:0002683	Abnormal calvaria morphology	26005	C2CD3	OMIM:615948
HP:0002683	Abnormal calvaria morphology	6659	SOX4	OMIM:618506
HP:0002683	Abnormal calvaria morphology	8818	DPM2	ORPHA:329178
HP:0002683	Abnormal calvaria morphology	90459	ERI1	OMIM:620663
HP:0002683	Abnormal calvaria morphology	114803	MYSM1	ORPHA:508542
HP:0002683	Abnormal calvaria morphology	8050	PDHX	OMIM:245349
HP:0002683	Abnormal calvaria morphology	80816	ASXL3	OMIM:615485
HP:0002683	Abnormal calvaria morphology	6536	SLC6A9	OMIM:617301
HP:0002683	Abnormal calvaria morphology	2263	FGFR2	ORPHA:168624
HP:0002683	Abnormal calvaria morphology	10225	CD96	OMIM:211750
HP:0002683	Abnormal calvaria morphology	10225	CD96	ORPHA:1308
HP:0002683	Abnormal calvaria morphology	79158	GNPTAB	OMIM:252500
HP:0002683	Abnormal calvaria morphology	79158	GNPTAB	OMIM:252600
HP:0002683	Abnormal calvaria morphology	4488	MSX2	OMIM:604757
HP:0002683	Abnormal calvaria morphology	4001	LMNB1	OMIM:619179
HP:0002683	Abnormal calvaria morphology	158326	FREM1	OMIM:614485
HP:0002683	Abnormal calvaria morphology	158326	FREM1	ORPHA:3366
HP:0002683	Abnormal calvaria morphology	5925	RB1	ORPHA:1587
HP:0002683	Abnormal calvaria morphology	23229	ARHGEF9	ORPHA:163985
HP:0002683	Abnormal calvaria morphology	23229	ARHGEF9	OMIM:300607
HP:0002683	Abnormal calvaria morphology	23511	NUP188	OMIM:618804
HP:0002683	Abnormal calvaria morphology	7874	USP7	OMIM:616863
HP:0002683	Abnormal calvaria morphology	1108	CHD4	OMIM:617159
HP:0002683	Abnormal calvaria morphology	1801	DPH1	OMIM:616901
HP:0002683	Abnormal calvaria morphology	1801	DPH1	ORPHA:459061
HP:0002683	Abnormal calvaria morphology	201163	FLCN	OMIM:610883
HP:0002683	Abnormal calvaria morphology	2260	FGFR1	OMIM:190440
HP:0002683	Abnormal calvaria morphology	2260	FGFR1	ORPHA:3366
HP:0002683	Abnormal calvaria morphology	8813	DPM1	ORPHA:79322
HP:0002683	Abnormal calvaria morphology	5351	PLOD1	ORPHA:1900
HP:0002683	Abnormal calvaria morphology	5727	PTCH1	ORPHA:77301
HP:0002683	Abnormal calvaria morphology	7546	ZIC2	OMIM:609637
HP:0002683	Abnormal calvaria morphology	171023	ASXL1	ORPHA:97297
HP:0002683	Abnormal calvaria morphology	171023	ASXL1	OMIM:605039
HP:0002683	Abnormal calvaria morphology	84823	LMNB2	OMIM:619180
HP:0002683	Abnormal calvaria morphology	404672	GTF2H5	OMIM:616395
HP:0002683	Abnormal calvaria morphology	9742	IFT140	OMIM:266920
HP:0002683	Abnormal calvaria morphology	9758	FRMPD4	OMIM:300983
HP:0002683	Abnormal calvaria morphology	1954	MEGF8	OMIM:614976
HP:0002683	Abnormal calvaria morphology	2719	GPC3	OMIM:312870
HP:0002683	Abnormal calvaria morphology	2239	GPC4	OMIM:312870
HP:0002683	Abnormal calvaria morphology	9343	EFTUD2	OMIM:610536
HP:0002683	Abnormal calvaria morphology	9343	EFTUD2	ORPHA:79113
HP:0002683	Abnormal calvaria morphology	2313	FLI1	ORPHA:2308
HP:0002683	Abnormal calvaria morphology	1802	DPH2	ORPHA:459061
HP:0002683	Abnormal calvaria morphology	10075	HUWE1	OMIM:309590
HP:0002683	Abnormal calvaria morphology	6857	SYT1	ORPHA:522077
HP:0002683	Abnormal calvaria morphology	2273	FHL1	OMIM:300280
HP:0002683	Abnormal calvaria morphology	121340	SP7	OMIM:613849
HP:0002683	Abnormal calvaria morphology	5573	PRKAR1A	ORPHA:950
HP:0002683	Abnormal calvaria morphology	5573	PRKAR1A	OMIM:101800
HP:0002683	Abnormal calvaria morphology	5144	PDE4D	ORPHA:950
HP:0002683	Abnormal calvaria morphology	5144	PDE4D	ORPHA:439822
HP:0002683	Abnormal calvaria morphology	8243	SMC1A	OMIM:300590
HP:0002683	Abnormal calvaria morphology	8243	SMC1A	ORPHA:199
HP:0002683	Abnormal calvaria morphology	2294	FOXF1	OMIM:265380
HP:0002683	Abnormal calvaria morphology	2218	FKTN	ORPHA:272
HP:0002683	Abnormal calvaria morphology	158	ADSL	OMIM:103050
HP:0002683	Abnormal calvaria morphology	158	ADSL	ORPHA:46
HP:0002683	Abnormal calvaria morphology	8367	H4C5	OMIM:619950
HP:0002683	Abnormal calvaria morphology	104	ADARB1	OMIM:618862
HP:0002683	Abnormal calvaria morphology	4750	NEK1	OMIM:263520
HP:0002683	Abnormal calvaria morphology	55503	TRPV6	OMIM:618188
HP:0002683	Abnormal calvaria morphology	1947	EFNB1	ORPHA:1520
HP:0002683	Abnormal calvaria morphology	1947	EFNB1	OMIM:304110
HP:0002683	Abnormal calvaria morphology	5885	RAD21	OMIM:614701
HP:0002683	Abnormal calvaria morphology	5885	RAD21	ORPHA:199
HP:0002683	Abnormal calvaria morphology	145173	B3GLCT	ORPHA:709
HP:0002683	Abnormal calvaria morphology	2261	FGFR3	ORPHA:53271
HP:0002683	Abnormal calvaria morphology	2261	FGFR3	ORPHA:93262
HP:0002683	Abnormal calvaria morphology	2261	FGFR3	ORPHA:35099
HP:0002683	Abnormal calvaria morphology	2261	FGFR3	ORPHA:794
HP:0002683	Abnormal calvaria morphology	2261	FGFR3	OMIM:612247
HP:0002683	Abnormal calvaria morphology	2261	FGFR3	OMIM:602849
HP:0002683	Abnormal calvaria morphology	7518	XRCC4	ORPHA:99812
HP:0002683	Abnormal calvaria morphology	3981	LIG4	ORPHA:99812
HP:0002683	Abnormal calvaria morphology	3981	LIG4	OMIM:606593
HP:0002683	Abnormal calvaria morphology	55777	MBD5	ORPHA:228402
HP:0002683	Abnormal calvaria morphology	55777	MBD5	OMIM:156200
HP:0002683	Abnormal calvaria morphology	23126	POGZ	ORPHA:468678
HP:0002683	Abnormal calvaria morphology	23126	POGZ	OMIM:616364
HP:0002683	Abnormal calvaria morphology	10084	PQBP1	ORPHA:93950
HP:0002683	Abnormal calvaria morphology	10084	PQBP1	OMIM:309500
HP:0002683	Abnormal calvaria morphology	55209	SETD5	ORPHA:404440
HP:0002683	Abnormal calvaria morphology	55209	SETD5	OMIM:615761
HP:0002683	Abnormal calvaria morphology	5447	POR	ORPHA:95699
HP:0002683	Abnormal calvaria morphology	5447	POR	OMIM:201750
HP:0002683	Abnormal calvaria morphology	5447	POR	OMIM:207410
HP:0002683	Abnormal calvaria morphology	4125	MAN2B1	ORPHA:309282
HP:0002683	Abnormal calvaria morphology	267010	RNU12	OMIM:603116
HP:0002683	Abnormal calvaria morphology	267010	RNU12	ORPHA:85199
HP:0002683	Abnormal calvaria morphology	3021	H3-3B	OMIM:619721
HP:0002683	Abnormal calvaria morphology	89910	UBE3B	OMIM:244450
HP:0002683	Abnormal calvaria morphology	89910	UBE3B	ORPHA:2707
HP:0002683	Abnormal calvaria morphology	4010	LMX1B	ORPHA:495818
HP:0002683	Abnormal calvaria morphology	6812	STXBP1	ORPHA:495818
HP:0002683	Abnormal calvaria morphology	2201	FBN2	OMIM:121050
HP:0002683	Abnormal calvaria morphology	2314	FLII	ORPHA:819
HP:0002683	Abnormal calvaria morphology	23096	IQSEC2	ORPHA:819
HP:0002683	Abnormal calvaria morphology	23096	IQSEC2	OMIM:309530
HP:0002683	Abnormal calvaria morphology	10743	RAI1	ORPHA:819
HP:0002683	Abnormal calvaria morphology	10743	RAI1	OMIM:182290
HP:0002683	Abnormal calvaria morphology	10522	DEAF1	ORPHA:819
HP:0002683	Abnormal calvaria morphology	10522	DEAF1	OMIM:615828
HP:0002683	Abnormal calvaria morphology	25782	RAB3GAP2	OMIM:212720
HP:0002683	Abnormal calvaria morphology	25782	RAB3GAP2	ORPHA:1387
HP:0002683	Abnormal calvaria morphology	25782	RAB3GAP2	OMIM:614225
HP:0002683	Abnormal calvaria morphology	23384	SPECC1L	ORPHA:1519
HP:0002683	Abnormal calvaria morphology	6023	RMRP	ORPHA:175
HP:0002683	Abnormal calvaria morphology	6023	RMRP	OMIM:250250
HP:0002683	Abnormal calvaria morphology	84992	PIGY	ORPHA:247262
HP:0002683	Abnormal calvaria morphology	84720	PIGO	ORPHA:247262
HP:0002683	Abnormal calvaria morphology	93210	PGAP3	ORPHA:247262
HP:0002683	Abnormal calvaria morphology	284098	PIGW	ORPHA:247262
HP:0002683	Abnormal calvaria morphology	27315	PGAP2	ORPHA:247262
HP:0002683	Abnormal calvaria morphology	55650	PIGV	ORPHA:247262
HP:0002683	Abnormal calvaria morphology	9487	PIGL	ORPHA:247262
HP:0002683	Abnormal calvaria morphology	9487	PIGL	ORPHA:3474
HP:0002683	Abnormal calvaria morphology	9487	PIGL	OMIM:280000
HP:0002683	Abnormal calvaria morphology	2892	GRIA3	OMIM:300699
HP:0002683	Abnormal calvaria morphology	2892	GRIA3	ORPHA:364028
HP:0002683	Abnormal calvaria morphology	129685	TAF8	OMIM:619972
HP:0002683	Abnormal calvaria morphology	2590	GALNT2	OMIM:618885
HP:0002683	Abnormal calvaria morphology	57492	ARID1B	OMIM:135900
HP:0002683	Abnormal calvaria morphology	80204	FBXO11	OMIM:618089
HP:0002683	Abnormal calvaria morphology	10606	PAICS	OMIM:619859
HP:0002683	Abnormal calvaria morphology	815	CAMK2A	OMIM:617798
HP:0002683	Abnormal calvaria morphology	23184	MESD	OMIM:618644
HP:0002683	Abnormal calvaria morphology	93627	TBCK	OMIM:616900
HP:0002683	Abnormal calvaria morphology	4313	MMP2	ORPHA:371428
HP:0002683	Abnormal calvaria morphology	4313	MMP2	OMIM:259600
HP:0002683	Abnormal calvaria morphology	4323	MMP14	ORPHA:371428
HP:0002683	Abnormal calvaria morphology	259232	NALCN	ORPHA:562528
HP:0002683	Abnormal calvaria morphology	259232	NALCN	OMIM:615419
HP:0002683	Abnormal calvaria morphology	9401	RECQL4	OMIM:218600
HP:0002683	Abnormal calvaria morphology	9401	RECQL4	ORPHA:1225
HP:0002683	Abnormal calvaria morphology	652	BMP4	OMIM:607932
HP:0002683	Abnormal calvaria morphology	54476	RNF216	ORPHA:1173
HP:0002683	Abnormal calvaria morphology	10908	PNPLA6	ORPHA:1173
HP:0002683	Abnormal calvaria morphology	10908	PNPLA6	ORPHA:2377
HP:0002683	Abnormal calvaria morphology	51651	PTRH2	ORPHA:456312
HP:0002683	Abnormal calvaria morphology	51651	PTRH2	OMIM:616263
HP:0002683	Abnormal calvaria morphology	4330	MN1	OMIM:618774
HP:0002683	Abnormal calvaria morphology	79813	EHMT1	OMIM:610253
HP:0002683	Abnormal calvaria morphology	79813	EHMT1	ORPHA:261652
HP:0002683	Abnormal calvaria morphology	79813	EHMT1	ORPHA:96147
HP:0002683	Abnormal calvaria morphology	1009	CDH11	ORPHA:1299
HP:0002683	Abnormal calvaria morphology	1009	CDH11	OMIM:211380
HP:0002683	Abnormal calvaria morphology	7291	TWIST1	OMIM:101400
HP:0002683	Abnormal calvaria morphology	7291	TWIST1	ORPHA:35099
HP:0002683	Abnormal calvaria morphology	7291	TWIST1	ORPHA:794
HP:0002683	Abnormal calvaria morphology	7291	TWIST1	OMIM:617746
HP:0002683	Abnormal calvaria morphology	2783	GNB2	OMIM:619503
HP:0002683	Abnormal calvaria morphology	26057	ANKRD17	OMIM:619504
HP:0002683	Abnormal calvaria morphology	26834	RNU4-2	OMIM:620851
HP:0002683	Abnormal calvaria morphology	4247	MGAT2	OMIM:212066
HP:0002683	Abnormal calvaria morphology	2697	GJA1	OMIM:257850
HP:0002683	Abnormal calvaria morphology	81794	ADAMTS10	OMIM:277600
HP:0002683	Abnormal calvaria morphology	55768	NGLY1	OMIM:615273
HP:0002683	Abnormal calvaria morphology	9895	TECPR2	OMIM:615031
HP:0002683	Abnormal calvaria morphology	9895	TECPR2	ORPHA:320385
HP:0002683	Abnormal calvaria morphology	56006	SMG9	OMIM:619995
HP:0002683	Abnormal calvaria morphology	1182	CLCN3	OMIM:619512
HP:0002683	Abnormal calvaria morphology	51604	PIGT	OMIM:615398
HP:0002683	Abnormal calvaria morphology	51604	PIGT	ORPHA:369837
HP:0002683	Abnormal calvaria morphology	8558	CDK10	OMIM:617694
HP:0002683	Abnormal calvaria morphology	51633	OTUD6B	OMIM:617452
HP:0002683	Abnormal calvaria morphology	51633	OTUD6B	ORPHA:505237
HP:0002683	Abnormal calvaria morphology	26053	AUTS2	OMIM:615834
HP:0002683	Abnormal calvaria morphology	8239	USP9X	ORPHA:480880
HP:0002683	Abnormal calvaria morphology	8239	USP9X	OMIM:300968
HP:0002683	Abnormal calvaria morphology	285175	UNC80	OMIM:616801
HP:0002683	Abnormal calvaria morphology	5590	PRKCZ	ORPHA:1606
HP:0002683	Abnormal calvaria morphology	2563	GABRD	ORPHA:1606
HP:0002683	Abnormal calvaria morphology	23013	SPEN	ORPHA:1606
HP:0002683	Abnormal calvaria morphology	8510	MMP23B	ORPHA:1606
HP:0002683	Abnormal calvaria morphology	7798	LUZP1	ORPHA:1606
HP:0002683	Abnormal calvaria morphology	6497	SKI	ORPHA:1606
HP:0002683	Abnormal calvaria morphology	10630	PDPN	ORPHA:1606
HP:0002683	Abnormal calvaria morphology	3339	HSPG2	ORPHA:1606
HP:0002683	Abnormal calvaria morphology	10277	UBE4B	ORPHA:1606
HP:0002683	Abnormal calvaria morphology	8514	KCNAB2	ORPHA:1606
HP:0002683	Abnormal calvaria morphology	473	RERE	ORPHA:1606
HP:0002683	Abnormal calvaria morphology	63976	PRDM16	ORPHA:1606
HP:0002683	Abnormal calvaria morphology	54897	CASZ1	ORPHA:1606
HP:0002683	Abnormal calvaria morphology	7337	UBE3A	OMIM:105830
HP:0002683	Abnormal calvaria morphology	6638	SNRPN	OMIM:105830
HP:0002683	Abnormal calvaria morphology	54499	TMCO1	OMIM:213980
HP:0002683	Abnormal calvaria morphology	54499	TMCO1	ORPHA:1394
HP:0002683	Abnormal calvaria morphology	11128	POLR3A	OMIM:264090
HP:0002683	Abnormal calvaria morphology	157570	ESCO2	ORPHA:3103
HP:0002683	Abnormal calvaria morphology	157570	ESCO2	OMIM:268300
HP:0002683	Abnormal calvaria morphology	2517	FUCA1	ORPHA:349
HP:0002683	Abnormal calvaria morphology	10236	HNRNPR	OMIM:620073
HP:0002683	Abnormal calvaria morphology	79796	ALG9	ORPHA:79328
HP:0002683	Abnormal calvaria morphology	79796	ALG9	OMIM:608776
HP:0002683	Abnormal calvaria morphology	79796	ALG9	OMIM:263210
HP:0002683	Abnormal calvaria morphology	79718	TBL1XR1	OMIM:602342
HP:0002683	Abnormal calvaria morphology	79718	TBL1XR1	ORPHA:487825
HP:0002683	Abnormal calvaria morphology	2200	FBN1	OMIM:608328
HP:0002683	Abnormal calvaria morphology	26137	ZBTB20	OMIM:259050
HP:0002683	Abnormal calvaria morphology	58508	KMT2C	ORPHA:261652
HP:0002683	Abnormal calvaria morphology	4094	MAF	ORPHA:1272
HP:0002683	Abnormal calvaria morphology	4094	MAF	OMIM:601088
HP:0002683	Abnormal calvaria morphology	8314	BAP1	OMIM:619762
HP:0002683	Abnormal calvaria morphology	253959	RALGAPA1	OMIM:618797
HP:0002683	Abnormal calvaria morphology	4849	CNOT3	OMIM:618672
HP:0002683	Abnormal calvaria morphology	6942	TCF20	OMIM:618430
HP:0002683	Abnormal calvaria morphology	200424	TET3	OMIM:618798
HP:0002683	Abnormal calvaria morphology	5832	ALDH18A1	OMIM:219150
HP:0002683	Abnormal calvaria morphology	471	ATIC	OMIM:608688
HP:0002683	Abnormal calvaria morphology	471	ATIC	ORPHA:250977
HP:0002683	Abnormal calvaria morphology	57688	ZSWIM6	OMIM:603671
HP:0002683	Abnormal calvaria morphology	57688	ZSWIM6	ORPHA:1827
HP:0002683	Abnormal calvaria morphology	51567	TDP2	ORPHA:404493
HP:0002683	Abnormal calvaria morphology	8643	PTCH2	ORPHA:377
HP:0002683	Abnormal calvaria morphology	51684	SUFU	ORPHA:377
HP:0002683	Abnormal calvaria morphology	22930	RAB3GAP1	ORPHA:1387
HP:0002683	Abnormal calvaria morphology	6611	SMS	OMIM:309583
HP:0002683	Abnormal calvaria morphology	6611	SMS	ORPHA:3063
HP:0002683	Abnormal calvaria morphology	25836	NIPBL	OMIM:122470
HP:0002683	Abnormal calvaria morphology	25836	NIPBL	ORPHA:199
HP:0002683	Abnormal calvaria morphology	51322	WAC	OMIM:616708
HP:0002683	Abnormal calvaria morphology	4733	DRG1	OMIM:620641
HP:0002683	Abnormal calvaria morphology	60681	FKBP10	OMIM:610968
HP:0002683	Abnormal calvaria morphology	701	BUB1B	OMIM:257300
HP:0002683	Abnormal calvaria morphology	29123	ANKRD11	OMIM:148050
HP:0002683	Abnormal calvaria morphology	5881	RAC3	OMIM:618577
HP:0002683	Abnormal calvaria morphology	60529	ALX4	ORPHA:228390
HP:0002683	Abnormal calvaria morphology	60529	ALX4	OMIM:613451
HP:0002683	Abnormal calvaria morphology	60529	ALX4	ORPHA:52022
HP:0002683	Abnormal calvaria morphology	5587	PRKD1	OMIM:617364
HP:0002683	Abnormal calvaria morphology	2703	GJA8	OMIM:612474
HP:0002683	Abnormal calvaria morphology	2702	GJA5	OMIM:612474
HP:0002683	Abnormal calvaria morphology	123016	TTC8	OMIM:615985
HP:0002683	Abnormal calvaria morphology	27152	INTU	OMIM:617925
HP:0002683	Abnormal calvaria morphology	56603	CYP26B1	OMIM:614416
HP:0002683	Abnormal calvaria morphology	10664	CTCF	OMIM:615502
HP:0002683	Abnormal calvaria morphology	78987	CRELD1	OMIM:620771
HP:0002683	Abnormal calvaria morphology	84181	CHD6	ORPHA:2108
HP:0002683	Abnormal calvaria morphology	6938	TCF12	ORPHA:35099
HP:0002683	Abnormal calvaria morphology	7545	ZIC1	ORPHA:35099
HP:0002683	Abnormal calvaria morphology	7545	ZIC1	OMIM:616602
HP:0002683	Abnormal calvaria morphology	7545	ZIC1	OMIM:618736
HP:0002683	Abnormal calvaria morphology	55906	ZC4H2	OMIM:301041
HP:0002683	Abnormal calvaria morphology	6909	TBX2	OMIM:618223
HP:0002683	Abnormal calvaria morphology	56896	DPYSL5	OMIM:619435
HP:0002683	Abnormal calvaria morphology	8092	ALX1	OMIM:613456
HP:0002683	Abnormal calvaria morphology	253738	EBF3	ORPHA:96148
HP:0002683	Abnormal calvaria morphology	23028	KDM1A	OMIM:616728
HP:0002683	Abnormal calvaria morphology	55869	HDAC8	OMIM:300882
HP:0002683	Abnormal calvaria morphology	55869	HDAC8	ORPHA:199
HP:0002683	Abnormal calvaria morphology	3313	HSPA9	OMIM:616854
HP:0002683	Abnormal calvaria morphology	23314	SATB2	ORPHA:251019
HP:0002683	Abnormal calvaria morphology	79644	SRD5A3	OMIM:612379
HP:0002683	Abnormal calvaria morphology	51114	ZDHHC9	ORPHA:776
HP:0002683	Abnormal calvaria morphology	65109	UPF3B	ORPHA:776
HP:0002683	Abnormal calvaria morphology	9968	MED12	ORPHA:776
HP:0002683	Abnormal calvaria morphology	9126	SMC3	OMIM:610759
HP:0002683	Abnormal calvaria morphology	9126	SMC3	ORPHA:199
HP:0002683	Abnormal calvaria morphology	56975	FAM20C	OMIM:259775
HP:0002683	Abnormal calvaria morphology	54496	PRMT7	OMIM:617157
HP:0002683	Abnormal calvaria morphology	10265	IRX5	OMIM:611174
HP:0002683	Abnormal calvaria morphology	3054	HCFC1	OMIM:309541
HP:0002683	Abnormal calvaria morphology	3183	HNRNPC	OMIM:620688
HP:0002683	Abnormal calvaria morphology	2077	ERF	ORPHA:207
HP:0002683	Abnormal calvaria morphology	29940	DSE	OMIM:615539
HP:0002683	Abnormal calvaria morphology	51608	GET4	OMIM:620200
HP:0002683	Abnormal calvaria morphology	23389	MED13L	ORPHA:369891
HP:0002683	Abnormal calvaria morphology	23389	MED13L	OMIM:616789
HP:0002683	Abnormal calvaria morphology	7703	PCGF2	OMIM:618371
HP:0002683	Abnormal calvaria morphology	1301	COL11A1	ORPHA:560
HP:0002683	Abnormal calvaria morphology	5277	PIGA	OMIM:300868
HP:0002683	Abnormal calvaria morphology	26040	SETBP1	OMIM:616078
HP:0002683	Abnormal calvaria morphology	83696	TRAPPC9	ORPHA:352530
HP:0002683	Abnormal calvaria morphology	92949	ADAMTSL1	ORPHA:521445
HP:0002683	Abnormal calvaria morphology	128637	TBC1D20	OMIM:615663
HP:0002683	Abnormal calvaria morphology	175	AGA	OMIM:208400
HP:0002683	Abnormal calvaria morphology	860	RUNX2	ORPHA:1452
HP:0002683	Abnormal calvaria morphology	23495	TNFRSF13B	ORPHA:1572
HP:0002683	Abnormal calvaria morphology	4790	NFKB1	ORPHA:1572
HP:0002683	Abnormal calvaria morphology	4791	NFKB2	ORPHA:1572
HP:0002683	Abnormal calvaria morphology	115650	TNFRSF13C	ORPHA:1572
HP:0002683	Abnormal calvaria morphology	1380	CR2	ORPHA:1572
HP:0002683	Abnormal calvaria morphology	8742	TNFSF12	ORPHA:1572
HP:0002683	Abnormal calvaria morphology	930	CD19	ORPHA:1572
HP:0002683	Abnormal calvaria morphology	29851	ICOS	ORPHA:1572
HP:0002683	Abnormal calvaria morphology	931	MS4A1	ORPHA:1572
HP:0002683	Abnormal calvaria morphology	975	CD81	ORPHA:1572
HP:0002683	Abnormal calvaria morphology	359948	IRF2BP2	ORPHA:1572
HP:0002683	Abnormal calvaria morphology	6304	SATB1	OMIM:619229
HP:0002683	Abnormal calvaria morphology	139285	AMER1	ORPHA:2780
HP:0002683	Abnormal calvaria morphology	760	CA2	ORPHA:2785
HP:0002683	Abnormal calvaria morphology	64864	RFX7	OMIM:620330
HP:0002683	Abnormal calvaria morphology	23476	BRD4	ORPHA:199
HP:0002683	Abnormal calvaria morphology	6878	TAF6	ORPHA:199
HP:0002683	Abnormal calvaria morphology	10771	ZMYND11	OMIM:616083
HP:0002683	Abnormal calvaria morphology	57498	KIDINS220	OMIM:617296
HP:0002683	Abnormal calvaria morphology	29957	SLC25A24	ORPHA:2095
HP:0002683	Abnormal calvaria morphology	29957	SLC25A24	OMIM:612289
HP:0002683	Abnormal calvaria morphology	57003	CCDC47	OMIM:618268
HP:0002683	Abnormal calvaria morphology	10526	IPO8	OMIM:619472
HP:0002683	Abnormal calvaria morphology	348180	CTU2	OMIM:618142
HP:0002683	Abnormal calvaria morphology	4041	LRP5	ORPHA:178377
HP:0002683	Abnormal calvaria morphology	22931	RAB18	OMIM:614222
HP:0002683	Abnormal calvaria morphology	80232	WDR26	OMIM:617616
HP:0002683	Abnormal calvaria morphology	490	ATP2B1	OMIM:619910
HP:0002683	Abnormal calvaria morphology	538	ATP7A	OMIM:309400
HP:0002683	Abnormal calvaria morphology	8405	SPOP	OMIM:618828
HP:0002683	Abnormal calvaria morphology	5781	PTPN11	ORPHA:500
HP:0002683	Abnormal calvaria morphology	673	BRAF	ORPHA:500
HP:0002683	Abnormal calvaria morphology	5894	RAF1	ORPHA:500
HP:0002683	Abnormal calvaria morphology	10128	LRPPRC	ORPHA:70472
HP:0002683	Abnormal calvaria morphology	526	ATP6V1B2	ORPHA:79500
HP:0002683	Abnormal calvaria morphology	57465	TBC1D24	ORPHA:79500
HP:0002683	Abnormal calvaria morphology	2132	EXT2	ORPHA:52022
HP:0002683	Abnormal calvaria morphology	51317	PHF21A	ORPHA:52022
HP:0002683	Abnormal calvaria morphology	84172	POLR1B	ORPHA:861
HP:0002683	Abnormal calvaria morphology	9533	POLR1C	ORPHA:861
HP:0002683	Abnormal calvaria morphology	51082	POLR1D	ORPHA:861
HP:0002683	Abnormal calvaria morphology	6949	TCOF1	ORPHA:861
HP:0002683	Abnormal calvaria morphology	113189	CHST14	OMIM:601776
HP:0002683	Abnormal calvaria morphology	203068	TUBB	OMIM:156610
HP:0002683	Abnormal calvaria morphology	285590	SH3PXD2B	OMIM:249420
HP:0002683	Abnormal calvaria morphology	51715	RAB23	OMIM:201000
HP:0002683	Abnormal calvaria morphology	10651	MTX2	OMIM:619127
HP:0002683	Abnormal calvaria morphology	91875	TTC5	OMIM:619244
HP:0002683	Abnormal calvaria morphology	202018	TAPT1	OMIM:616897
HP:0002683	Abnormal calvaria morphology	1654	DDX3X	OMIM:300958
HP:0002683	Abnormal calvaria morphology	9759	HDAC4	OMIM:600430
HP:0002683	Abnormal calvaria morphology	51	ACOX1	OMIM:264470
HP:0002683	Abnormal calvaria morphology	9897	WASHC5	OMIM:220210
HP:0002683	Abnormal calvaria morphology	5745	PTH1R	OMIM:156400
HP:0002683	Abnormal calvaria morphology	2629	GBA1	ORPHA:2072
HP:0002683	Abnormal calvaria morphology	9320	TRIP12	OMIM:617752
HP:0002683	Abnormal calvaria morphology	51594	NBAS	OMIM:614800
HP:0002683	Abnormal calvaria morphology	54187	NANS	OMIM:610442
HP:0002683	Abnormal calvaria morphology	5430	POLR2A	OMIM:618603
HP:0002683	Abnormal calvaria morphology	9939	RBM8A	OMIM:274000
HP:0002683	Abnormal calvaria morphology	2801	GOLGA2	OMIM:620240
HP:0002683	Abnormal calvaria morphology	9469	CHST3	OMIM:245600
HP:0002683	Abnormal calvaria morphology	26229	B3GAT3	OMIM:245600
HP:0002683	Abnormal calvaria morphology	4204	MECP2	OMIM:300260
HP:0002683	Abnormal calvaria morphology	1280	COL2A1	OMIM:200610
HP:0002683	Abnormal calvaria morphology	7043	TGFB3	OMIM:615582
HP:0002683	Abnormal calvaria morphology	4858	NOVA2	OMIM:618859
HP:0002683	Abnormal calvaria morphology	27445	PCLO	OMIM:608027
HP:0002683	Abnormal calvaria morphology	246329	STAC3	OMIM:255995
HP:0002683	Abnormal calvaria morphology	9990	SLC12A6	OMIM:218000
HP:0002683	Abnormal calvaria morphology	6448	SGSH	OMIM:252900
HP:0002683	Abnormal calvaria morphology	138050	HGSNAT	OMIM:252930
HP:0002683	Abnormal calvaria morphology	4669	NAGLU	OMIM:252920
HP:0002683	Abnormal calvaria morphology	199857	ALG14	OMIM:619036
HP:0002683	Abnormal calvaria morphology	10491	CRTAP	ORPHA:2050
HP:0002683	Abnormal calvaria morphology	9871	SEC24D	ORPHA:2050
HP:0002683	Abnormal calvaria morphology	9871	SEC24D	OMIM:616294
HP:0002683	Abnormal calvaria morphology	5034	P4HB	ORPHA:2050
HP:0002683	Abnormal calvaria morphology	2879	GPX4	ORPHA:93317
HP:0002683	Abnormal calvaria morphology	2879	GPX4	OMIM:250220
HP:0002683	Abnormal calvaria morphology	80036	TRPM3	OMIM:620224
HP:0002683	Abnormal calvaria morphology	5830	PEX5	OMIM:214110
HP:0002683	Abnormal calvaria morphology	23030	KDM4B	OMIM:619320
HP:0002683	Abnormal calvaria morphology	9321	TRIP11	OMIM:200600
HP:0002683	Abnormal calvaria morphology	54	ACP5	OMIM:607944
HP:0002683	Abnormal calvaria morphology	55612	FERMT1	ORPHA:2908
HP:0002683	Abnormal calvaria morphology	83871	RAB34	OMIM:620718
HP:0002683	Abnormal calvaria morphology	1312	COMT	ORPHA:567
HP:0002683	Abnormal calvaria morphology	221037	JMJD1C	ORPHA:567
HP:0002683	Abnormal calvaria morphology	2812	GP1BB	ORPHA:567
HP:0002683	Abnormal calvaria morphology	6239	RREB1	ORPHA:567
HP:0002683	Abnormal calvaria morphology	6899	TBX1	ORPHA:567
HP:0002683	Abnormal calvaria morphology	7290	HIRA	ORPHA:567
HP:0002683	Abnormal calvaria morphology	9632	SEC24C	ORPHA:567
HP:0002683	Abnormal calvaria morphology	7353	UFD1	ORPHA:567
HP:0002683	Abnormal calvaria morphology	421	ARVCF	ORPHA:567
HP:0002683	Abnormal calvaria morphology	164	AP1G1	OMIM:619467
HP:0002683	Abnormal calvaria morphology	7543	ZFX	OMIM:301118
HP:0002683	Abnormal calvaria morphology	11193	WBP4	OMIM:620852
HP:0002683	Abnormal calvaria morphology	55553	SOX6	OMIM:618971
HP:0002683	Abnormal calvaria morphology	84282	RNF135	ORPHA:137634
HP:0002683	Abnormal calvaria morphology	5824	PEX19	OMIM:614886
HP:0002683	Abnormal calvaria morphology	5290	PIK3CA	ORPHA:99802
HP:0002683	Abnormal calvaria morphology	2475	MTOR	ORPHA:99802
HP:0002683	Abnormal calvaria morphology	10000	AKT3	ORPHA:99802
HP:0002683	Abnormal calvaria morphology	4893	NRAS	OMIM:163200
HP:0002683	Abnormal calvaria morphology	3845	KRAS	OMIM:163200
HP:0002683	Abnormal calvaria morphology	3265	HRAS	OMIM:163200
HP:0002683	Abnormal calvaria morphology	1718	DHCR24	OMIM:602398
HP:0002683	Abnormal calvaria morphology	128	ADH5	OMIM:619151
HP:0002683	Abnormal calvaria morphology	7528	YY1	ORPHA:506358
HP:0002683	Abnormal calvaria morphology	7528	YY1	OMIM:617557
HP:0002683	Abnormal calvaria morphology	7421	VDR	ORPHA:93160
HP:0002683	Abnormal calvaria morphology	11253	MAN1B1	ORPHA:397941
HP:0002683	Abnormal calvaria morphology	11253	MAN1B1	OMIM:614202
HP:0002683	Abnormal calvaria morphology	51256	TBC1D7	OMIM:248000
HP:0002683	Abnormal calvaria morphology	28981	IFT81	OMIM:617895
HP:0002683	Abnormal calvaria morphology	9853	RUSC2	OMIM:617773
HP:0002683	Abnormal calvaria morphology	8506	CNTNAP1	OMIM:618186
HP:0002683	Abnormal calvaria morphology	23135	KDM6B	OMIM:618505
HP:0002683	Abnormal calvaria morphology	8425	LTBP4	OMIM:613177
HP:0002683	Abnormal calvaria morphology	51126	NAA20	OMIM:619717
HP:0002683	Abnormal calvaria morphology	9820	CUL7	ORPHA:2616
HP:0002683	Abnormal calvaria morphology	9820	CUL7	OMIM:273750
HP:0002683	Abnormal calvaria morphology	23363	OBSL1	ORPHA:2616
HP:0002683	Abnormal calvaria morphology	23363	OBSL1	OMIM:612921
HP:0002683	Abnormal calvaria morphology	83987	CCDC8	ORPHA:2616
HP:0002683	Abnormal calvaria morphology	83987	CCDC8	OMIM:614205
HP:0002683	Abnormal calvaria morphology	57539	WDR35	OMIM:613610
HP:0002683	Abnormal calvaria morphology	57539	WDR35	ORPHA:1515
HP:0002683	Abnormal calvaria morphology	57539	WDR35	OMIM:614091
HP:0002683	Abnormal calvaria morphology	3636	INPPL1	ORPHA:3144
HP:0002683	Abnormal calvaria morphology	23169	SLC35D1	ORPHA:3144
HP:0002683	Abnormal calvaria morphology	64324	NSD1	ORPHA:821
HP:0002683	Abnormal calvaria morphology	64324	NSD1	OMIM:117550
HP:0002683	Abnormal calvaria morphology	10297	APC2	ORPHA:821
HP:0002683	Abnormal calvaria morphology	10297	APC2	OMIM:617169
HP:0002683	Abnormal calvaria morphology	9578	CDC42BPB	OMIM:619841
HP:0002683	Abnormal calvaria morphology	79639	TMEM53	OMIM:619727
HP:0002683	Abnormal calvaria morphology	22858	CILK1	OMIM:612651
HP:0002683	Abnormal calvaria morphology	55904	KMT2E	OMIM:618512
HP:0002683	Abnormal calvaria morphology	5728	PTEN	ORPHA:2969
HP:0002683	Abnormal calvaria morphology	5728	PTEN	ORPHA:109
HP:0002683	Abnormal calvaria morphology	129563	DIS3L2	ORPHA:2849
HP:0002683	Abnormal calvaria morphology	55780	ERMARD	ORPHA:75857
HP:0002683	Abnormal calvaria morphology	112752	IFT43	ORPHA:1515
HP:0002683	Abnormal calvaria morphology	112752	IFT43	OMIM:614099
HP:0002683	Abnormal calvaria morphology	112752	IFT43	OMIM:617866
HP:0002683	Abnormal calvaria morphology	51098	IFT52	ORPHA:1515
HP:0002683	Abnormal calvaria morphology	51098	IFT52	OMIM:617102
HP:0002683	Abnormal calvaria morphology	55764	IFT122	ORPHA:1515
HP:0002683	Abnormal calvaria morphology	55764	IFT122	OMIM:218330
HP:0002683	Abnormal calvaria morphology	57728	WDR19	ORPHA:1515
HP:0002683	Abnormal calvaria morphology	3190	HNRNPK	OMIM:616580
HP:0002683	Abnormal calvaria morphology	55870	ASH1L	OMIM:617796
HP:0002683	Abnormal calvaria morphology	1272	CNTN1	OMIM:612540
HP:0002683	Abnormal calvaria morphology	672	BRCA1	ORPHA:84
HP:0002683	Abnormal calvaria morphology	10459	MAD2L2	ORPHA:84
HP:0002683	Abnormal calvaria morphology	7516	XRCC2	ORPHA:84
HP:0002683	Abnormal calvaria morphology	29089	UBE2T	ORPHA:84
HP:0002683	Abnormal calvaria morphology	675	BRCA2	ORPHA:84
HP:0002683	Abnormal calvaria morphology	55120	FANCL	ORPHA:84
HP:0002683	Abnormal calvaria morphology	2177	FANCD2	ORPHA:84
HP:0002683	Abnormal calvaria morphology	2175	FANCA	ORPHA:84
HP:0002683	Abnormal calvaria morphology	2187	FANCB	ORPHA:84
HP:0002683	Abnormal calvaria morphology	2176	FANCC	ORPHA:84
HP:0002683	Abnormal calvaria morphology	2178	FANCE	ORPHA:84
HP:0002683	Abnormal calvaria morphology	2188	FANCF	ORPHA:84
HP:0002683	Abnormal calvaria morphology	2189	FANCG	ORPHA:84
HP:0002683	Abnormal calvaria morphology	5888	RAD51	ORPHA:84
HP:0002683	Abnormal calvaria morphology	5889	RAD51C	ORPHA:84
HP:0002683	Abnormal calvaria morphology	55159	RFWD3	ORPHA:84
HP:0002683	Abnormal calvaria morphology	83990	BRIP1	ORPHA:84
HP:0002683	Abnormal calvaria morphology	57697	FANCM	ORPHA:84
HP:0002683	Abnormal calvaria morphology	79728	PALB2	ORPHA:84
HP:0002683	Abnormal calvaria morphology	84464	SLX4	ORPHA:84
HP:0002683	Abnormal calvaria morphology	2072	ERCC4	ORPHA:84
HP:0002683	Abnormal calvaria morphology	55215	FANCI	ORPHA:84
HP:0002683	Abnormal calvaria morphology	7020	TFAP2A	OMIM:113620
HP:0002683	Abnormal calvaria morphology	7020	TFAP2A	ORPHA:1297
HP:0002683	Abnormal calvaria morphology	55697	VAC14	ORPHA:3472
HP:0002683	Abnormal calvaria morphology	10815	CPLX1	ORPHA:280
HP:0002683	Abnormal calvaria morphology	54872	PIGG	ORPHA:280
HP:0002683	Abnormal calvaria morphology	7469	NELFA	ORPHA:280
HP:0002683	Abnormal calvaria morphology	1487	CTBP1	ORPHA:280
HP:0002683	Abnormal calvaria morphology	3954	LETM1	ORPHA:280
HP:0002683	Abnormal calvaria morphology	7468	NSD2	ORPHA:280
HP:0002683	Abnormal calvaria morphology	4297	KMT2A	ORPHA:319182
HP:0002683	Abnormal calvaria morphology	23327	NEDD4L	OMIM:617201
HP:0002683	Abnormal calvaria morphology	4591	TRIM37	OMIM:253250
HP:0002683	Abnormal calvaria morphology	4598	MVK	OMIM:610377
HP:0002683	Abnormal calvaria morphology	4598	MVK	ORPHA:29
HP:0002683	Abnormal calvaria morphology	1747	DLX3	ORPHA:3352
HP:0002683	Abnormal calvaria morphology	1747	DLX3	OMIM:190320
HP:0002683	Abnormal calvaria morphology	4853	NOTCH2	ORPHA:955
HP:0002683	Abnormal calvaria morphology	4534	MTM1	ORPHA:596
HP:0002683	Abnormal calvaria morphology	4534	MTM1	OMIM:310400
HP:0002683	Abnormal calvaria morphology	23312	DMXL2	OMIM:618663
HP:0002683	Abnormal calvaria morphology	7701	ZNF142	OMIM:618425
HP:0002683	Abnormal calvaria morphology	6134	RPL10	ORPHA:459070
HP:0002683	Abnormal calvaria morphology	6134	RPL10	OMIM:300998
HP:0002683	Abnormal calvaria morphology	8085	KMT2D	OMIM:620186
HP:0002683	Abnormal calvaria morphology	5700	PSMC1	OMIM:620071
HP:0002683	Abnormal calvaria morphology	56098	PCDHGC4	OMIM:619880
HP:0002683	Abnormal calvaria morphology	641	BLM	OMIM:210900
HP:0002683	Abnormal calvaria morphology	8481	OFD1	OMIM:311200
HP:0002683	Abnormal calvaria morphology	55670	PEX26	ORPHA:44
HP:0002683	Abnormal calvaria morphology	5828	PEX2	ORPHA:44
HP:0002683	Abnormal calvaria morphology	8504	PEX3	ORPHA:44
HP:0002683	Abnormal calvaria morphology	9409	PEX16	ORPHA:44
HP:0002683	Abnormal calvaria morphology	5190	PEX6	ORPHA:44
HP:0002683	Abnormal calvaria morphology	8799	PEX11B	ORPHA:44
HP:0002683	Abnormal calvaria morphology	5189	PEX1	ORPHA:44
HP:0002683	Abnormal calvaria morphology	5193	PEX12	ORPHA:44
HP:0002683	Abnormal calvaria morphology	5194	PEX13	ORPHA:44
HP:0002683	Abnormal calvaria morphology	5195	PEX14	ORPHA:44
HP:0002683	Abnormal calvaria morphology	5195	PEX14	OMIM:614887
HP:0002683	Abnormal calvaria morphology	5192	PEX10	ORPHA:44
HP:0002683	Abnormal calvaria morphology	249	ALPL	OMIM:241510
HP:0002683	Abnormal calvaria morphology	3423	IDS	OMIM:309900
HP:0002683	Abnormal calvaria morphology	546	ATRX	OMIM:309580
HP:0002683	Abnormal calvaria morphology	4088	SMAD3	OMIM:613795
HP:0002683	Abnormal calvaria morphology	4087	SMAD2	OMIM:619656
HP:0002683	Abnormal calvaria morphology	6261	RYR1	ORPHA:324581
HP:0002683	Abnormal calvaria morphology	4882	NPR2	ORPHA:40
HP:0002683	Abnormal calvaria morphology	26173	INTS1	OMIM:618571
HP:0002683	Abnormal calvaria morphology	54808	DYM	OMIM:607326
HP:0002683	Abnormal calvaria morphology	10765	KDM5B	OMIM:618109
HP:0002683	Abnormal calvaria morphology	11133	KPTN	OMIM:615637
HP:0002683	Abnormal calvaria morphology	2653	GCSH	OMIM:620423
HP:0002683	Abnormal calvaria morphology	51259	TMEM216	OMIM:608091
HP:0002683	Abnormal calvaria morphology	85358	SHANK3	OMIM:606232
HP:0002683	Abnormal calvaria morphology	100033413	SNORD116-1	OMIM:176270
HP:0002683	Abnormal calvaria morphology	8924	HERC2	OMIM:176270
HP:0002683	Abnormal calvaria morphology	23742	NPAP1	OMIM:176270
HP:0002683	Abnormal calvaria morphology	338433	SNORD115-1	OMIM:176270
HP:0002683	Abnormal calvaria morphology	54551	MAGEL2	OMIM:176270
HP:0002683	Abnormal calvaria morphology	7681	MKRN3	OMIM:176270
HP:0002683	Abnormal calvaria morphology	145624	PWAR1	OMIM:176270
HP:0002683	Abnormal calvaria morphology	3653	IPW	OMIM:176270
HP:0002683	Abnormal calvaria morphology	791114	PWRN1	OMIM:176270
HP:0002683	Abnormal calvaria morphology	1482	NKX2-5	ORPHA:3303
HP:0002683	Abnormal calvaria morphology	137814	NKX2-6	ORPHA:3303
HP:0002683	Abnormal calvaria morphology	23414	ZFPM2	ORPHA:3303
HP:0002683	Abnormal calvaria morphology	2626	GATA4	ORPHA:3303
HP:0002683	Abnormal calvaria morphology	3791	KDR	ORPHA:3303
HP:0002683	Abnormal calvaria morphology	2627	GATA6	ORPHA:3303
HP:0002683	Abnormal calvaria morphology	2657	GDF1	ORPHA:3303
HP:0002683	Abnormal calvaria morphology	182	JAG1	ORPHA:3303
HP:0002683	Abnormal calvaria morphology	140628	GATA5	ORPHA:3303
HP:0002683	Abnormal calvaria morphology	2324	FLT4	ORPHA:3303
HP:0002683	Abnormal calvaria morphology	10370	CITED2	ORPHA:3303
HP:0002683	Abnormal calvaria morphology	411	ARSB	OMIM:253200
HP:0002683	Abnormal calvaria morphology	5631	PRPS1	ORPHA:423479
HP:0002683	Abnormal calvaria morphology	4854	NOTCH3	OMIM:130720
HP:0002683	Abnormal calvaria morphology	4854	NOTCH3	ORPHA:2789
HP:0002683	Abnormal calvaria morphology	29998	BICRA	OMIM:619325
HP:0002683	Abnormal calvaria morphology	9342	SNAP29	ORPHA:66631
HP:0002683	Abnormal calvaria morphology	1289	COL5A1	OMIM:619329
HP:0002683	Abnormal calvaria morphology	4784	NFIX	OMIM:602535
HP:0002683	Abnormal calvaria morphology	23221	RHOBTB2	OMIM:618004
HP:0002683	Abnormal calvaria morphology	3756	KCNH1	OMIM:135500
HP:0002683	Abnormal calvaria morphology	10943	MSL3	OMIM:301032
HP:0002683	Abnormal calvaria morphology	633	BGN	OMIM:300989
HP:0002683	Abnormal calvaria morphology	51305	KCNK9	ORPHA:166108
HP:0002683	Abnormal calvaria morphology	5000	ORC4	OMIM:613800
HP:0002683	Abnormal calvaria morphology	116442	RAB39B	OMIM:300271
HP:0002683	Abnormal calvaria morphology	6711	SPTBN1	OMIM:619475
HP:0002683	Abnormal calvaria morphology	2254	FGF9	OMIM:612961
HP:0002683	Abnormal calvaria morphology	79005	SCNM1	OMIM:620107
HP:0002683	Abnormal calvaria morphology	3425	IDUA	ORPHA:93473
HP:0002683	Abnormal calvaria morphology	207	AKT1	ORPHA:744
HP:0002683	Abnormal calvaria morphology	207	AKT1	OMIM:176920
HP:0002683	Abnormal calvaria morphology	11198	SUPT16H	OMIM:619480
HP:0002683	Abnormal calvaria morphology	8567	MADD	OMIM:619005
HP:0002683	Abnormal calvaria morphology	5297	PI4KA	OMIM:616531
HP:0002683	Abnormal calvaria morphology	5297	PI4KA	OMIM:619708
HP:0002683	Abnormal calvaria morphology	23233	EXOC6B	OMIM:618395
HP:0002683	Abnormal calvaria morphology	83737	ITCH	OMIM:613385
HP:0002683	Abnormal calvaria morphology	83737	ITCH	ORPHA:228426
HP:0002683	Abnormal calvaria morphology	10293	TRAIP	OMIM:616777
HP:0002683	Abnormal calvaria morphology	9702	CEP57	OMIM:614114
HP:0002683	Abnormal calvaria morphology	6519	SLC3A1	ORPHA:163690
HP:0002683	Abnormal calvaria morphology	9581	PREPL	ORPHA:163690
HP:0002683	Abnormal calvaria morphology	5528	PPP2R5D	ORPHA:457279
HP:0002683	Abnormal calvaria morphology	100151683	RNU4ATAC	ORPHA:2636
HP:0002683	Abnormal calvaria morphology	3295	HSD17B4	OMIM:261515
HP:0002683	Abnormal calvaria morphology	4621	MYH3	ORPHA:2990
HP:0002683	Abnormal calvaria morphology	1146	CHRNG	ORPHA:2990
HP:0002683	Abnormal calvaria morphology	6910	TBX5	OMIM:142900
HP:0002683	Abnormal calvaria morphology	7042	TGFB2	OMIM:614816
HP:0002683	Abnormal calvaria morphology	23019	CNOT1	OMIM:618500
HP:0002683	Abnormal calvaria morphology	23019	CNOT1	ORPHA:556955
HP:0002683	Abnormal calvaria morphology	57061	HYMAI	ORPHA:96191
HP:0002683	Abnormal calvaria morphology	5325	PLAGL1	ORPHA:96191
HP:0002683	Abnormal calvaria morphology	1859	DYRK1A	OMIM:614104
HP:0002683	Abnormal calvaria morphology	1861	TOR1A	OMIM:618947
HP:0002683	Abnormal calvaria morphology	23556	PIGN	ORPHA:280633
HP:0002683	Abnormal calvaria morphology	10220	GDF11	OMIM:619122
HP:0002683	Abnormal calvaria morphology	6911	TBX6	ORPHA:1797
HP:0002683	Abnormal calvaria morphology	7841	MOGS	ORPHA:79330
HP:0002683	Abnormal calvaria morphology	7841	MOGS	OMIM:606056
HP:0002683	Abnormal calvaria morphology	3481	IGF2	OMIM:130650
HP:0002683	Abnormal calvaria morphology	3784	KCNQ1	OMIM:130650
HP:0002683	Abnormal calvaria morphology	10984	KCNQ1OT1	OMIM:130650
HP:0002683	Abnormal calvaria morphology	7021	TFAP2B	ORPHA:46627
HP:0002683	Abnormal calvaria morphology	134701	RIPPLY2	ORPHA:2311
HP:0002683	Abnormal calvaria morphology	10683	DLL3	ORPHA:2311
HP:0002683	Abnormal calvaria morphology	3955	LFNG	ORPHA:2311
HP:0002683	Abnormal calvaria morphology	84667	HES7	ORPHA:2311
HP:0002683	Abnormal calvaria morphology	145873	MESP2	ORPHA:2311
HP:0002683	Abnormal calvaria morphology	1147	CHUK	OMIM:619339
HP:0002683	Abnormal calvaria morphology	23522	KAT6B	ORPHA:3047
HP:0002683	Abnormal calvaria morphology	23522	KAT6B	OMIM:603736
HP:0002683	Abnormal calvaria morphology	28952	CCDC22	ORPHA:7
HP:0002683	Abnormal calvaria morphology	57020	VPS35L	ORPHA:7
HP:0002683	Abnormal calvaria morphology	4613	MYCN	OMIM:164280
HP:0002683	Abnormal calvaria morphology	26235	FBXL4	OMIM:615471
HP:0002683	Abnormal calvaria morphology	8573	CASK	OMIM:300749
HP:0002683	Abnormal calvaria morphology	55605	KIF21A	ORPHA:45358
HP:0002683	Abnormal calvaria morphology	347733	TUBB2B	ORPHA:45358
HP:0002683	Abnormal calvaria morphology	7846	TUBA1A	ORPHA:45358
HP:0002683	Abnormal calvaria morphology	401	PHOX2A	ORPHA:45358
HP:0002683	Abnormal calvaria morphology	10381	TUBB3	ORPHA:45358
HP:0002683	Abnormal calvaria morphology	10381	TUBB3	ORPHA:300570
HP:0002683	Abnormal calvaria morphology	84570	COL25A1	ORPHA:45358
HP:0002683	Abnormal calvaria morphology	84570	COL25A1	ORPHA:1143
HP:0002683	Abnormal calvaria morphology	6418	SET	OMIM:618106
HP:0002683	Abnormal calvaria morphology	4897	NRCAM	OMIM:619833
HP:0002683	Abnormal calvaria morphology	56623	INPP5E	OMIM:213300
HP:0002683	Abnormal calvaria morphology	170302	ARX	OMIM:308350
HP:0002683	Abnormal calvaria morphology	1836	SLC26A2	ORPHA:56304
HP:0002683	Abnormal calvaria morphology	27125	AFF4	ORPHA:444077
HP:0002683	Abnormal calvaria morphology	5575	PRKAR1B	OMIM:619680
HP:0002683	Abnormal calvaria morphology	5515	PPP2CA	OMIM:618354
HP:0002683	Abnormal calvaria morphology	3020	H3-3A	OMIM:619720
HP:0002683	Abnormal calvaria morphology	113179	ADAT3	ORPHA:363528
HP:0002683	Abnormal calvaria morphology	283489	CHAMP1	OMIM:616579
HP:0002683	Abnormal calvaria morphology	84162	BLTP1	OMIM:617822
HP:0002683	Abnormal calvaria morphology	64221	ROBO3	OMIM:607313
HP:0002683	Abnormal calvaria morphology	6904	TBCD	ORPHA:496641
HP:0002683	Abnormal calvaria morphology	6904	TBCD	OMIM:617193
HP:0002683	Abnormal calvaria morphology	6595	SMARCA2	OMIM:619293
HP:0002683	Abnormal calvaria morphology	1778	DYNC1H1	OMIM:614563
HP:0002683	Abnormal calvaria morphology	7994	KAT6A	ORPHA:457193
HP:0002683	Abnormal calvaria morphology	7994	KAT6A	OMIM:616268
HP:0002683	Abnormal calvaria morphology	26999	CYFIP2	OMIM:618008
HP:0002683	Abnormal calvaria morphology	2009	EML1	OMIM:600348
HP:0002683	Abnormal calvaria morphology	23036	ZNF292	OMIM:619188
HP:0002683	Abnormal calvaria morphology	51729	WBP11	OMIM:619227
HP:0002683	Abnormal calvaria morphology	1302	COL11A2	ORPHA:2021
HP:0002683	Abnormal calvaria morphology	1974	EIF4A2	OMIM:620455
HP:0002683	Abnormal calvaria morphology	57167	SALL4	ORPHA:233
HP:0002683	Abnormal calvaria morphology	9935	MAFB	ORPHA:233
HP:0002683	Abnormal calvaria morphology	1123	CHN1	ORPHA:233
HP:0002683	Abnormal calvaria morphology	5518	PPP2R1A	OMIM:616362
HP:0002683	Abnormal calvaria morphology	5518	PPP2R1A	ORPHA:457284
HP:0002683	Abnormal calvaria morphology	112858	TP53RK	OMIM:617730
HP:0002683	Abnormal calvaria morphology	54914	FOCAD	OMIM:619991
HP:0002683	Abnormal calvaria morphology	91461	PKDCC	OMIM:618821
HP:0002683	Abnormal calvaria morphology	9091	PIGQ	OMIM:618548
HP:0002683	Abnormal calvaria morphology	93986	FOXP2	ORPHA:251061
HP:0002683	Abnormal calvaria morphology	374879	ZNF699	OMIM:619488
HP:0002683	Abnormal calvaria morphology	5594	MAPK1	OMIM:619087
HP:0002683	Abnormal calvaria morphology	7358	UGDH	OMIM:618792
HP:0002683	Abnormal calvaria morphology	388015	RTL1	ORPHA:96334
HP:0002683	Abnormal calvaria morphology	8788	DLK1	ORPHA:96334
HP:0002683	Abnormal calvaria morphology	55384	MEG3	ORPHA:96334
HP:0002683	Abnormal calvaria morphology	3187	HNRNPH1	OMIM:620083
HP:0002683	Abnormal calvaria morphology	4841	NONO	ORPHA:466791
HP:0002683	Abnormal calvaria morphology	126792	B3GALT6	ORPHA:536467
HP:0002683	Abnormal calvaria morphology	57502	NLGN4X	OMIM:300495
HP:0002683	Abnormal calvaria morphology	5879	RAC1	OMIM:617751
HP:0002683	Abnormal calvaria morphology	5879	RAC1	ORPHA:500159
HP:0002683	Abnormal calvaria morphology	1984	EIF5A	OMIM:619376
HP:0002683	Abnormal calvaria morphology	51360	MBTPS2	ORPHA:85284
HP:0002683	Abnormal calvaria morphology	84168	ANTXR1	OMIM:230740
HP:0002683	Abnormal calvaria morphology	55681	SCYL2	ORPHA:1143
HP:0002683	Abnormal calvaria morphology	57222	ERGIC1	ORPHA:1143
HP:0002683	Abnormal calvaria morphology	22856	CHSY1	OMIM:605282
HP:0002683	Abnormal calvaria morphology	1807	DPYS	OMIM:222748
HP:0002683	Abnormal calvaria morphology	129285	PPP1R21	OMIM:619383
HP:0002683	Abnormal calvaria morphology	27161	AGO2	OMIM:619149
HP:0002683	Abnormal calvaria morphology	58497	PRUNE1	OMIM:617481
HP:0002683	Abnormal calvaria morphology	58497	PRUNE1	ORPHA:544469
HP:0002683	Abnormal calvaria morphology	57647	DHX37	OMIM:618731
HP:0002683	Abnormal calvaria morphology	8621	CDK13	OMIM:617360
HP:0002683	Abnormal calvaria morphology	284361	EMC10	OMIM:619264
HP:0002683	Abnormal calvaria morphology	1523	CUX1	OMIM:618330
HP:0002683	Abnormal calvaria morphology	341208	HEPHL1	OMIM:261990
HP:0002683	Abnormal calvaria morphology	25871	NEPRO	OMIM:618853
HP:0002683	Abnormal calvaria morphology	196528	ARID2	OMIM:617808
HP:0002683	Abnormal calvaria morphology	10535	RNASEH2A	ORPHA:51
HP:0002683	Abnormal calvaria morphology	84153	RNASEH2C	ORPHA:51
HP:0002683	Abnormal calvaria morphology	25939	SAMHD1	ORPHA:51
HP:0002683	Abnormal calvaria morphology	79621	RNASEH2B	ORPHA:51
HP:0002683	Abnormal calvaria morphology	103	ADAR	ORPHA:51
HP:0002683	Abnormal calvaria morphology	11277	TREX1	ORPHA:51
HP:0002683	Abnormal calvaria morphology	100147744	RNU7-1	ORPHA:51
HP:0002683	Abnormal calvaria morphology	134353	LSM11	ORPHA:51
HP:0002683	Abnormal calvaria morphology	64135	IFIH1	ORPHA:51
HP:0002683	Abnormal calvaria morphology	389827	MYMK	OMIM:254940
HP:0002683	Abnormal calvaria morphology	865	CBFB	OMIM:620099
HP:0002683	Abnormal calvaria morphology	341640	FREM2	ORPHA:2052
HP:0002683	Abnormal calvaria morphology	80144	FRAS1	ORPHA:2052
HP:0002683	Abnormal calvaria morphology	80144	FRAS1	OMIM:219000
HP:0002683	Abnormal calvaria morphology	23426	GRIP1	ORPHA:2052
HP:0002683	Abnormal calvaria morphology	25885	POLR1A	OMIM:616462
HP:0002683	Abnormal calvaria morphology	54567	DLL4	OMIM:616589
HP:0002683	Abnormal calvaria morphology	54567	DLL4	ORPHA:1114
HP:0002683	Abnormal calvaria morphology	54567	DLL4	ORPHA:974
HP:0002683	Abnormal calvaria morphology	7476	WNT7A	ORPHA:2879
HP:0002683	Abnormal calvaria morphology	57514	ARHGAP31	OMIM:100300
HP:0002683	Abnormal calvaria morphology	57514	ARHGAP31	ORPHA:974
HP:0002683	Abnormal calvaria morphology	3930	LBR	ORPHA:1426
HP:0002683	Abnormal calvaria morphology	284252	KCTD1	OMIM:181270
HP:0002683	Abnormal calvaria morphology	197131	UBR1	OMIM:243800
HP:0002683	Abnormal calvaria morphology	9790	BMS1	ORPHA:1114
HP:0002683	Abnormal calvaria morphology	5339	PLEC	ORPHA:1114
HP:0002683	Abnormal calvaria morphology	10054	UBA2	ORPHA:1114
HP:0002683	Abnormal calvaria morphology	3691	ITGB4	ORPHA:1114
HP:0002683	Abnormal calvaria morphology	80781	COL18A1	ORPHA:1571
HP:0002683	Abnormal calvaria morphology	5062	PAK2	ORPHA:1571
HP:0002683	Abnormal calvaria morphology	3516	RBPJ	ORPHA:974
HP:0002683	Abnormal calvaria morphology	4851	NOTCH1	ORPHA:974
HP:0002683	Abnormal calvaria morphology	57572	DOCK6	ORPHA:974
HP:0002683	Abnormal calvaria morphology	285203	EOGT	ORPHA:974
HP:0002683	Abnormal calvaria morphology	2137	EXTL3	ORPHA:508533
HP:0002683	Abnormal calvaria morphology	2137	EXTL3	OMIM:617425
HP:0002683	Abnormal calvaria morphology	64116	SLC39A8	OMIM:616721
HP:0002683	Abnormal calvaria morphology	64116	SLC39A8	ORPHA:468699
HP:0002683	Abnormal calvaria morphology	10312	TCIRG1	OMIM:259700
HP:0002683	Abnormal calvaria morphology	10312	TCIRG1	ORPHA:667
HP:0002683	Abnormal calvaria morphology	54973	INTS11	OMIM:620428
HP:0002683	Abnormal calvaria morphology	7355	SLC35A2	ORPHA:356961
HP:0002683	Abnormal calvaria morphology	89970	RSPRY1	OMIM:616723
HP:0002683	Abnormal calvaria morphology	89970	RSPRY1	ORPHA:457395
HP:0002683	Abnormal calvaria morphology	26115	TANC2	OMIM:618906
HP:0002683	Abnormal calvaria morphology	1186	CLCN7	ORPHA:667
HP:0002683	Abnormal calvaria morphology	29887	SNX10	ORPHA:667
HP:0002683	Abnormal calvaria morphology	8600	TNFSF11	ORPHA:667
HP:0002683	Abnormal calvaria morphology	55593	OTUD5	OMIM:301056
HP:0002683	Abnormal calvaria morphology	4774	NFIA	ORPHA:401986
HP:0002683	Abnormal calvaria morphology	91179	SCARF2	OMIM:600920
HP:0002683	Abnormal calvaria morphology	6651	SON	OMIM:617140
HP:0002683	Abnormal calvaria morphology	27245	AHDC1	ORPHA:412069
HP:0002683	Abnormal calvaria morphology	10157	AASS	ORPHA:2203
HP:0002683	Abnormal calvaria morphology	2316	FLNA	OMIM:305620
HP:0002683	Abnormal calvaria morphology	2316	FLNA	ORPHA:1826
HP:0002683	Abnormal calvaria morphology	284058	KANSL1	ORPHA:363958
HP:0002683	Abnormal calvaria morphology	284058	KANSL1	ORPHA:363965
HP:0002683	Abnormal calvaria morphology	4052	LTBP1	OMIM:619451
HP:0002683	Abnormal calvaria morphology	9739	SETD1A	OMIM:619056
HP:0002683	Abnormal calvaria morphology	6774	STAT3	ORPHA:2314
HP:0002683	Abnormal calvaria morphology	6774	STAT3	OMIM:147060
HP:0002683	Abnormal calvaria morphology	3572	IL6ST	OMIM:618523
HP:0002683	Abnormal calvaria morphology	4091	SMAD6	OMIM:617439
HP:0002683	Abnormal calvaria morphology	81620	CDT1	ORPHA:2554
HP:0002683	Abnormal calvaria morphology	23594	ORC6	ORPHA:2554
HP:0002683	Abnormal calvaria morphology	8318	CDC45	ORPHA:2554
HP:0002683	Abnormal calvaria morphology	8318	CDC45	OMIM:617063
HP:0002683	Abnormal calvaria morphology	990	CDC6	ORPHA:2554
HP:0002683	Abnormal calvaria morphology	4998	ORC1	ORPHA:2554
HP:0002683	Abnormal calvaria morphology	51053	GMNN	ORPHA:2554
HP:0002683	Abnormal calvaria morphology	29968	PSAT1	ORPHA:284417
HP:0002683	Abnormal calvaria morphology	1028	CDKN1C	OMIM:614732
HP:0002683	Abnormal calvaria morphology	29980	DONSON	OMIM:251230
HP:0002683	Abnormal calvaria morphology	54888	NSUN2	ORPHA:235
HP:0002683	Abnormal calvaria morphology	11285	B4GALT7	OMIM:130070
HP:0002683	Abnormal calvaria morphology	5251	PHEX	ORPHA:89936
HP:0002683	Abnormal calvaria morphology	26038	CHD5	OMIM:619873
HP:0002683	Abnormal calvaria morphology	149371	EXOC8	OMIM:619076
HP:0002683	Abnormal calvaria morphology	92002	CCNQ	OMIM:300707
HP:0002683	Abnormal calvaria morphology	9508	ADAMTS3	ORPHA:2136
HP:0002683	Abnormal calvaria morphology	147372	CCBE1	ORPHA:2136
HP:0002683	Abnormal calvaria morphology	79633	FAT4	ORPHA:2136
HP:0002683	Abnormal calvaria morphology	10283	CWC27	OMIM:250410
HP:0002683	Abnormal calvaria morphology	10283	CWC27	ORPHA:166035
HP:0002683	Abnormal calvaria morphology	81031	SLC2A10	ORPHA:3342
HP:0002683	Abnormal calvaria morphology	25914	RTTN	ORPHA:468631
HP:0002683	Abnormal calvaria morphology	2317	FLNB	ORPHA:503
HP:0002683	Abnormal calvaria morphology	78989	COLEC11	OMIM:265050
HP:0002683	Abnormal calvaria morphology	78989	COLEC11	ORPHA:293843
HP:0002683	Abnormal calvaria morphology	6608	SMO	ORPHA:1553
HP:0002683	Abnormal calvaria morphology	5500	PPP1CB	OMIM:617506
HP:0002683	Abnormal calvaria morphology	1758	DMP1	ORPHA:289176
HP:0002683	Abnormal calvaria morphology	1758	DMP1	OMIM:241520
HP:0002683	Abnormal calvaria morphology	5167	ENPP1	ORPHA:289176
HP:0002683	Abnormal calvaria morphology	84231	TRAF7	OMIM:618164
HP:0002683	Abnormal calvaria morphology	7048	TGFBR2	OMIM:610168
HP:0002683	Abnormal calvaria morphology	7048	TGFBR2	ORPHA:60030
HP:0002683	Abnormal calvaria morphology	545	ATR	ORPHA:808
HP:0002683	Abnormal calvaria morphology	1062	CENPE	ORPHA:808
HP:0002683	Abnormal calvaria morphology	5116	PCNT	ORPHA:808
HP:0002683	Abnormal calvaria morphology	5932	RBBP8	ORPHA:808
HP:0002683	Abnormal calvaria morphology	79902	NUP85	ORPHA:808
HP:0002683	Abnormal calvaria morphology	84126	ATRIP	ORPHA:808
HP:0002683	Abnormal calvaria morphology	1763	DNA2	ORPHA:808
HP:0002683	Abnormal calvaria morphology	22995	CEP152	ORPHA:808
HP:0002683	Abnormal calvaria morphology	10733	PLK4	ORPHA:808
HP:0002683	Abnormal calvaria morphology	5557	PRIM1	OMIM:620005
HP:0002683	Abnormal calvaria morphology	10584	COLEC10	ORPHA:293843
HP:0002683	Abnormal calvaria morphology	5648	MASP1	ORPHA:293843
HP:0002683	Abnormal calvaria morphology	6885	MAP3K7	ORPHA:1826
HP:0002683	Abnormal calvaria morphology	833	CARS1	ORPHA:33364
HP:0002683	Abnormal calvaria morphology	2068	ERCC2	ORPHA:33364
HP:0002683	Abnormal calvaria morphology	7737	RNF113A	ORPHA:33364
HP:0002683	Abnormal calvaria morphology	136647	MPLKIP	ORPHA:33364
HP:0002683	Abnormal calvaria morphology	6897	TARS1	ORPHA:33364
HP:0002683	Abnormal calvaria morphology	16	AARS1	ORPHA:33364
HP:0002683	Abnormal calvaria morphology	2071	ERCC3	ORPHA:33364
HP:0002683	Abnormal calvaria morphology	2961	GTF2E2	ORPHA:33364
HP:0002683	Abnormal calvaria morphology	11011	TLK2	OMIM:618050
HP:0002683	Abnormal calvaria morphology	25970	SH2B1	ORPHA:261197
HP:0002683	Abnormal calvaria morphology	7046	TGFBR1	ORPHA:60030
HP:0002683	Abnormal calvaria morphology	7046	TGFBR1	OMIM:609192
HP:0002683	Abnormal calvaria morphology	10082	GPC6	ORPHA:93329
HP:0002683	Abnormal calvaria morphology	4281	MID1	ORPHA:2745
HP:0002683	Abnormal calvaria morphology	3852	KRT5	ORPHA:79396
HP:0002683	Abnormal calvaria morphology	3861	KRT14	ORPHA:79396
HP:0002683	Abnormal calvaria morphology	7403	KDM6A	OMIM:147920
HP:0002683	Abnormal calvaria morphology	1497	CTNS	OMIM:219800
HP:0002683	Abnormal calvaria morphology	1139	CHRNA7	ORPHA:199318
HP:0002683	Abnormal calvaria morphology	83932	SPRTN	OMIM:616200
HP:0002683	Abnormal calvaria morphology	7360	UGP2	OMIM:618744
HP:0002683	Abnormal calvaria morphology	5927	KDM5A	OMIM:620820
HP:0002683	Abnormal calvaria morphology	220296	HEPACAM	ORPHA:210548
HP:0002683	Abnormal calvaria morphology	51741	WWOX	OMIM:616211
HP:0002683	Abnormal calvaria morphology	8942	KYNU	OMIM:617661
HP:0002683	Abnormal calvaria morphology	55790	CSGALNACT1	OMIM:618870
HP:0002683	Abnormal calvaria morphology	4286	MITF	OMIM:617306
HP:0002683	Abnormal calvaria morphology	6660	SOX5	ORPHA:313892
HP:0002683	Abnormal calvaria morphology	6660	SOX5	OMIM:616803
HP:0002683	Abnormal calvaria morphology	1896	EDA	OMIM:305100
HP:0002683	Abnormal calvaria morphology	1896	EDA	ORPHA:181
HP:0002683	Abnormal calvaria morphology	64359	NXN	OMIM:618529
HP:0002683	Abnormal calvaria morphology	64359	NXN	ORPHA:1507
HP:0002683	Abnormal calvaria morphology	4920	ROR2	ORPHA:1507
HP:0002683	Abnormal calvaria morphology	4920	ROR2	OMIM:268310
HP:0002683	Abnormal calvaria morphology	5191	PEX7	OMIM:215100
HP:0002683	Abnormal calvaria morphology	2035	EPB41	ORPHA:288
HP:0002683	Abnormal calvaria morphology	2995	GYPC	ORPHA:288
HP:0002683	Abnormal calvaria morphology	6710	SPTB	ORPHA:288
HP:0002683	Abnormal calvaria morphology	6708	SPTA1	ORPHA:288
HP:0002683	Abnormal calvaria morphology	10484	SEC23A	OMIM:607812
HP:0002683	Abnormal calvaria morphology	10484	SEC23A	ORPHA:50814
HP:0002683	Abnormal calvaria morphology	1105	CHD1	OMIM:617682
HP:0002683	Abnormal calvaria morphology	1105	CHD1	ORPHA:529965
HP:0002683	Abnormal calvaria morphology	84504	NKX6-2	OMIM:617560
HP:0002683	Abnormal calvaria morphology	1656	DDX6	OMIM:618653
HP:0002683	Abnormal calvaria morphology	5813	PURA	ORPHA:438216
HP:0002683	Abnormal calvaria morphology	6602	SMARCD1	OMIM:618779
HP:0002683	Abnormal calvaria morphology	3043	HBB	ORPHA:231214
HP:0002683	Abnormal calvaria morphology	3043	HBB	ORPHA:231226
HP:0002683	Abnormal calvaria morphology	6905	TBCE	OMIM:241410
HP:0002683	Abnormal calvaria morphology	5048	PAFAH1B1	ORPHA:217385
HP:0002683	Abnormal calvaria morphology	7531	YWHAE	ORPHA:217385
HP:0002683	Abnormal calvaria morphology	9681	DEPDC5	OMIM:620504
HP:0002683	Abnormal calvaria morphology	92609	TIMM50	OMIM:617698
HP:0002683	Abnormal calvaria morphology	83479	DDX59	ORPHA:2919
HP:0002683	Abnormal calvaria morphology	83479	DDX59	OMIM:174300
HP:0002683	Abnormal calvaria morphology	2271	FH	OMIM:606812
HP:0002683	Abnormal calvaria morphology	23007	PLCH1	OMIM:619895
HP:0002683	Abnormal calvaria morphology	79989	IFT56	OMIM:619534
HP:0002683	Abnormal calvaria morphology	1107	CHD3	OMIM:618205
HP:0002683	Abnormal calvaria morphology	1749	DLX5	OMIM:220600
HP:0002683	Abnormal calvaria morphology	5426	POLE	OMIM:618336
HP:0002683	Abnormal calvaria morphology	5426	POLE	ORPHA:85173
HP:0002683	Abnormal calvaria morphology	7227	TRPS1	ORPHA:77258
HP:0002683	Abnormal calvaria morphology	4921	DDR2	OMIM:271665
HP:0002683	Abnormal calvaria morphology	8925	HERC1	OMIM:617011
HP:0002683	Abnormal calvaria morphology	54892	NCAPG2	OMIM:618460
HP:0002683	Abnormal calvaria morphology	7707	ZNF148	OMIM:617260
HP:0002683	Abnormal calvaria morphology	2710	GK	OMIM:307030
HP:0002683	Abnormal calvaria morphology	3039	HBA1	ORPHA:98791
HP:0002683	Abnormal calvaria morphology	3040	HBA2	ORPHA:98791
HP:0002683	Abnormal calvaria morphology	5831	PYCR1	OMIM:612940
HP:0002683	Abnormal calvaria morphology	23258	DENND5A	OMIM:617281
HP:0002683	Abnormal calvaria morphology	9496	TBX4	ORPHA:261279
HP:0002683	Abnormal calvaria morphology	8091	HMGA2	ORPHA:94063
HP:0002683	Abnormal calvaria morphology	8091	HMGA2	ORPHA:397590
HP:0002683	Abnormal calvaria morphology	23592	LEMD3	ORPHA:94063
HP:0002683	Abnormal calvaria morphology	10013	HDAC6	OMIM:300863
HP:0002683	Abnormal calvaria morphology	10013	HDAC6	ORPHA:163966
HP:0002683	Abnormal calvaria morphology	3977	LIFR	OMIM:601559
HP:0002683	Abnormal calvaria morphology	4990	SIX6	OMIM:206900
HP:0002683	Abnormal calvaria morphology	6657	SOX2	OMIM:206900
HP:0002683	Abnormal calvaria morphology	4796	TONSL	OMIM:271510
HP:0002683	Abnormal calvaria morphology	4796	TONSL	ORPHA:93357
HP:0002683	Abnormal calvaria morphology	2887	GRB10	ORPHA:96182
HP:0002683	Abnormal calvaria morphology	23405	DICER1	OMIM:618272
HP:0002683	Abnormal calvaria morphology	55210	ATAD3A	OMIM:617183
HP:0002683	Abnormal calvaria morphology	1298	COL9A2	OMIM:600204
HP:0002683	Abnormal calvaria morphology	5058	PAK1	OMIM:618158
HP:0002683	Abnormal calvaria morphology	25839	COG4	ORPHA:85172
HP:0002683	Abnormal calvaria morphology	64093	SMOC1	OMIM:206920
HP:0002683	Abnormal calvaria morphology	64093	SMOC1	ORPHA:1106
HP:0002683	Abnormal calvaria morphology	2799	GNS	OMIM:252940
HP:0002683	Abnormal calvaria morphology	55599	RNPC3	OMIM:618160
HP:0002683	Abnormal calvaria morphology	7474	WNT5A	OMIM:180700
HP:0002683	Abnormal calvaria morphology	7474	WNT5A	ORPHA:3107
HP:0002683	Abnormal calvaria morphology	6913	TBX15	OMIM:260660
HP:0002683	Abnormal calvaria morphology	6913	TBX15	ORPHA:93333
HP:0002683	Abnormal calvaria morphology	55181	SMG8	OMIM:619268
HP:0002683	Abnormal calvaria morphology	4067	LYN	OMIM:620376
HP:0002683	Abnormal calvaria morphology	283450	HECTD4	OMIM:620250
HP:0002683	Abnormal calvaria morphology	775	CACNA1C	OMIM:620029
HP:0002683	Abnormal calvaria morphology	4983	OPHN1	OMIM:300486
HP:0002683	Abnormal calvaria morphology	55112	DYNC2I1	ORPHA:93271
HP:0002683	Abnormal calvaria morphology	57560	IFT80	ORPHA:93271
HP:0002683	Abnormal calvaria morphology	79659	DYNC2H1	ORPHA:93271
HP:0002683	Abnormal calvaria morphology	89891	DYNC2I2	ORPHA:93271
HP:0002683	Abnormal calvaria morphology	9442	MED27	OMIM:619286
HP:0002683	Abnormal calvaria morphology	6662	SOX9	OMIM:114290
HP:0002683	Abnormal calvaria morphology	5744	PTHLH	ORPHA:93387
HP:0002683	Abnormal calvaria morphology	3239	HOXD13	ORPHA:93387
HP:0002683	Abnormal calvaria morphology	4758	NEU1	ORPHA:812
HP:0002683	Abnormal calvaria morphology	150468	CKAP2L	ORPHA:3255
HP:0002683	Abnormal calvaria morphology	324	APC	ORPHA:3258
HP:0002683	Abnormal calvaria morphology	83550	GPR101	ORPHA:963
HP:0002683	Abnormal calvaria morphology	9049	AIP	ORPHA:963
HP:0002683	Abnormal calvaria morphology	9049	AIP	ORPHA:99725
HP:0002683	Abnormal calvaria morphology	9377	COX5A	OMIM:619064
HP:0002683	Abnormal calvaria morphology	9839	ZEB2	ORPHA:261552
HP:0002683	Abnormal calvaria morphology	1327	COX4I1	OMIM:619060
HP:0002683	Abnormal calvaria morphology	9184	BUB3	ORPHA:1052
HP:0002683	Abnormal calvaria morphology	699	BUB1	ORPHA:1052
HP:0002683	Abnormal calvaria morphology	9319	TRIP13	ORPHA:1052
HP:0002683	Abnormal calvaria morphology	10682	EBP	ORPHA:35173
HP:0002683	Abnormal calvaria morphology	10682	EBP	OMIM:302960
HP:0002683	Abnormal calvaria morphology	4338	MOCS2	OMIM:252160
HP:0002683	Abnormal calvaria morphology	657	BMPR1A	ORPHA:79076
HP:0002683	Abnormal calvaria morphology	25942	SIN3A	OMIM:613406
HP:0002683	Abnormal calvaria morphology	1857	DVL3	ORPHA:3107
HP:0002683	Abnormal calvaria morphology	1857	DVL3	OMIM:616894
HP:0002683	Abnormal calvaria morphology	2535	FZD2	ORPHA:3107
HP:0002683	Abnormal calvaria morphology	2535	FZD2	OMIM:164745
HP:0002683	Abnormal calvaria morphology	2535	FZD2	ORPHA:93328
HP:0002683	Abnormal calvaria morphology	2332	FMR1	ORPHA:908
HP:0002683	Abnormal calvaria morphology	23137	SMC5	OMIM:620185
HP:0002683	Abnormal calvaria morphology	57459	GATAD2B	ORPHA:363686
HP:0002683	Abnormal calvaria morphology	728294	D2HGDH	OMIM:600721
HP:0002683	Abnormal calvaria morphology	5324	PLAG1	ORPHA:397590
HP:0002683	Abnormal calvaria morphology	3708	ITPR1	OMIM:117360
HP:0002683	Abnormal calvaria morphology	4221	MEN1	ORPHA:99725
HP:0002683	Abnormal calvaria morphology	114548	NLRP3	OMIM:607115
HP:0002683	Abnormal calvaria morphology	114548	NLRP3	ORPHA:1451
HP:0002683	Abnormal calvaria morphology	5295	PIK3R1	OMIM:269880
HP:0002683	Abnormal calvaria morphology	254065	BRWD3	OMIM:300659
HP:0002683	Abnormal calvaria morphology	9652	SKIC3	OMIM:222470
HP:0002683	Abnormal calvaria morphology	10661	KLF1	OMIM:613673
HP:0002683	Abnormal calvaria morphology	26047	CNTNAP2	OMIM:610042
HP:0002683	Abnormal calvaria morphology	729920	CRPPA	OMIM:614643
HP:0002683	Abnormal calvaria morphology	91252	SLC39A13	OMIM:612350
HP:0002683	Abnormal calvaria morphology	867	CBL	OMIM:613563
HP:0002683	Abnormal calvaria morphology	51025	PAM16	OMIM:613320
HP:0002683	Abnormal calvaria morphology	8260	NAA10	ORPHA:276432
HP:0002683	Abnormal calvaria morphology	3720	JARID2	OMIM:620098
HP:0002683	Abnormal calvaria morphology	2245	FGD1	OMIM:305400
HP:0002683	Abnormal calvaria morphology	132	ADK	OMIM:614300
HP:0002683	Abnormal calvaria morphology	79650	USB1	OMIM:604173
HP:0002683	Abnormal calvaria morphology	5160	PDHA1	OMIM:312170
HP:0002683	Abnormal calvaria morphology	4792	NFKBIA	OMIM:612132
HP:0002683	Abnormal calvaria morphology	2902	GRIN1	OMIM:617820
HP:0002683	Abnormal calvaria morphology	10735	STAG2	OMIM:301022
HP:0002683	Abnormal calvaria morphology	8517	IKBKG	OMIM:300291
HP:0002683	Abnormal calvaria morphology	1000	CDH2	OMIM:618929
HP:0002683	Abnormal calvaria morphology	176	ACAN	OMIM:165800
HP:0002683	Abnormal calvaria morphology	3758	KCNJ1	OMIM:241200
HP:0002683	Abnormal calvaria morphology	25	ABL1	OMIM:617602
HP:0002683	Abnormal calvaria morphology	9419	CRIPT	OMIM:615789
HP:0002683	Abnormal calvaria morphology	55644	OSGEP	OMIM:617729
HP:0002683	Abnormal calvaria morphology	7204	TRIO	OMIM:618825
HP:0002683	Abnormal calvaria morphology	4337	MOCS1	OMIM:252150
HP:0002683	Abnormal calvaria morphology	51520	LARS1	OMIM:615438
HP:0002683	Abnormal calvaria morphology	4329	ALDH6A1	OMIM:614105
HP:0002683	Abnormal calvaria morphology	7040	TGFB1	ORPHA:1328
HP:0002683	Abnormal calvaria morphology	5293	PIK3CD	ORPHA:221139
HP:0002683	Abnormal calvaria morphology	90417	KNSTRN	ORPHA:221139
HP:0002683	Abnormal calvaria morphology	128178	EDARADD	OMIM:224900
HP:0002683	Abnormal calvaria morphology	10913	EDAR	OMIM:224900
HP:0002683	Abnormal calvaria morphology	60401	EDA2R	ORPHA:181
HP:0002683	Abnormal calvaria morphology	84628	NTNG2	OMIM:618718
HP:0002683	Abnormal calvaria morphology	113246	C12orf57	OMIM:218340
HP:0002683	Abnormal calvaria morphology	5495	PPM1B	ORPHA:163693
HP:0002683	Abnormal calvaria morphology	79823	CAMKMT	ORPHA:163693
HP:0002683	Abnormal calvaria morphology	5296	PIK3R2	OMIM:603387
HP:0002683	Abnormal calvaria morphology	10020	GNE	OMIM:269921
HP:0002683	Abnormal calvaria morphology	8777	MPDZ	OMIM:615219
HP:0002683	Abnormal calvaria morphology	5449	POU1F1	OMIM:613038
HP:0002683	Abnormal calvaria morphology	9757	KMT2B	OMIM:619934
HP:0002683	Abnormal calvaria morphology	2036	EPB41L1	OMIM:614257
HP:0002683	Abnormal calvaria morphology	10736	SIX2	ORPHA:488437
HP:0002683	Abnormal calvaria morphology	8398	PLA2G6	OMIM:256600
HP:0002683	Abnormal calvaria morphology	79068	FTO	OMIM:612938
HP:0002683	Abnormal calvaria morphology	9361	LONP1	OMIM:600373
HP:0002683	Abnormal calvaria morphology	9896	FIG4	OMIM:216340
HP:0002683	Abnormal calvaria morphology	9997	SCO2	OMIM:604377
HP:0002683	Abnormal calvaria morphology	6473	SHOX	ORPHA:240
HP:0002683	Abnormal calvaria morphology	4524	MTHFR	ORPHA:563612
HP:0002683	Abnormal calvaria morphology	57216	VANGL2	ORPHA:563612
HP:0002683	Abnormal calvaria morphology	5162	PDHB	ORPHA:255138
HP:0002683	Abnormal calvaria morphology	5649	RELN	ORPHA:89844
HP:0002683	Abnormal calvaria morphology	10300	KATNB1	ORPHA:89844
HP:0002683	Abnormal calvaria morphology	54820	NDE1	ORPHA:89844
HP:0002683	Abnormal calvaria morphology	2737	GLI3	OMIM:175700
HP:0002683	Abnormal calvaria morphology	6591	SNAI2	ORPHA:2884
HP:0002683	Abnormal calvaria morphology	3815	KIT	ORPHA:2884
HP:0002683	Abnormal calvaria morphology	3178	HNRNPA1	ORPHA:52430
HP:0002683	Abnormal calvaria morphology	7415	VCP	ORPHA:52430
HP:0002683	Abnormal calvaria morphology	3181	HNRNPA2B1	ORPHA:52430
HP:0002683	Abnormal calvaria morphology	2074	ERCC6	OMIM:133540
HP:0002683	Abnormal calvaria morphology	6424	SFRP4	OMIM:265900
HP:0002683	Abnormal calvaria morphology	8905	AP1S2	ORPHA:85335
HP:0002683	Abnormal calvaria morphology	8905	AP1S2	OMIM:304340
HP:0002683	Abnormal calvaria morphology	9791	PTDSS1	ORPHA:2658
HP:0002683	Abnormal calvaria morphology	4038	LRP4	OMIM:614305
HP:0002683	Abnormal calvaria morphology	9842	PLEKHM1	OMIM:618107
HP:0002683	Abnormal calvaria morphology	84320	ACBD6	OMIM:620785
HP:0002683	Abnormal calvaria morphology	3248	HPGD	OMIM:259100
HP:0002683	Abnormal calvaria morphology	91147	TMEM67	OMIM:602152
HP:0002683	Abnormal calvaria morphology	26503	SLC17A5	OMIM:604369
HP:0002683	Abnormal calvaria morphology	4089	SMAD4	OMIM:139210
HP:0002683	Abnormal calvaria morphology	1855	DVL1	OMIM:616331
HP:0002683	Abnormal calvaria morphology	8312	AXIN1	OMIM:620558
HP:0002683	Abnormal calvaria morphology	2720	GLB1	ORPHA:79255
HP:0002683	Abnormal calvaria morphology	1161	ERCC8	OMIM:216400
HP:0002683	Abnormal calvaria morphology	57231	SNX14	ORPHA:397709
HP:0002683	Abnormal calvaria morphology	6197	RPS6KA3	OMIM:303600
HP:0002683	Abnormal calvaria morphology	84295	PHF6	OMIM:301900
HP:0002683	Abnormal calvaria morphology	56172	ANKH	OMIM:123000
HP:0002683	Abnormal calvaria morphology	166929	SGMS2	OMIM:126550
HP:0002683	Abnormal calvaria morphology	2778	GNAS	ORPHA:79443
HP:0002683	Abnormal calvaria morphology	2778	GNAS	OMIM:103580
HP:0002683	Abnormal calvaria morphology	4982	TNFRSF11B	OMIM:239000
HP:0002683	Abnormal calvaria morphology	23387	SIK3	OMIM:618162
HP:0002683	Abnormal calvaria morphology	1277	COL1A1	OMIM:259420
HP:0002683	Abnormal calvaria morphology	1278	COL1A2	OMIM:259420
HP:0002683	Abnormal calvaria morphology	8493	PPM1D	OMIM:617450
HP:0002683	Abnormal calvaria morphology	2033	EP300	OMIM:180849
HP:0002683	Abnormal calvaria morphology	1387	CREBBP	OMIM:180849
HP:0002683	Abnormal calvaria morphology	6223	RPS19	OMIM:105650
HP:0002683	Abnormal calvaria morphology	3192	HNRNPU	ORPHA:238769
HP:0002683	Abnormal calvaria morphology	9851	KIAA0753	ORPHA:475
HP:0002683	Abnormal calvaria morphology	9851	KIAA0753	ORPHA:2754
HP:0002683	Abnormal calvaria morphology	5147	PDE6D	ORPHA:475
HP:0002683	Abnormal calvaria morphology	5147	PDE6D	ORPHA:2754
HP:0002683	Abnormal calvaria morphology	79600	TCTN1	ORPHA:475
HP:0002683	Abnormal calvaria morphology	79848	CSPP1	ORPHA:475
HP:0002683	Abnormal calvaria morphology	54806	AHI1	ORPHA:475
HP:0002683	Abnormal calvaria morphology	54806	AHI1	ORPHA:220493
HP:0002683	Abnormal calvaria morphology	153241	CEP120	ORPHA:475
HP:0002683	Abnormal calvaria morphology	153241	CEP120	ORPHA:220493
HP:0002683	Abnormal calvaria morphology	65250	CPLANE1	ORPHA:475
HP:0002683	Abnormal calvaria morphology	65250	CPLANE1	ORPHA:2754
HP:0002683	Abnormal calvaria morphology	200894	ARL13B	ORPHA:475
HP:0002683	Abnormal calvaria morphology	9731	CEP104	ORPHA:475
HP:0002683	Abnormal calvaria morphology	219844	HYLS1	ORPHA:475
HP:0002683	Abnormal calvaria morphology	23247	KATNIP	ORPHA:475
HP:0002683	Abnormal calvaria morphology	219854	TMEM218	ORPHA:475
HP:0002683	Abnormal calvaria morphology	54903	MKS1	ORPHA:475
HP:0002683	Abnormal calvaria morphology	54903	MKS1	ORPHA:220493
HP:0002683	Abnormal calvaria morphology	95681	CEP41	ORPHA:475
HP:0002683	Abnormal calvaria morphology	95681	CEP41	ORPHA:220493
HP:0002683	Abnormal calvaria morphology	9786	KIAA0586	ORPHA:475
HP:0002683	Abnormal calvaria morphology	26123	TCTN3	ORPHA:475
HP:0002683	Abnormal calvaria morphology	26123	TCTN3	ORPHA:2754
HP:0002683	Abnormal calvaria morphology	79867	TCTN2	ORPHA:475
HP:0002683	Abnormal calvaria morphology	80776	B9D2	ORPHA:475
HP:0002683	Abnormal calvaria morphology	10464	PIBF1	ORPHA:475
HP:0002683	Abnormal calvaria morphology	80210	ARMC9	ORPHA:475
HP:0002683	Abnormal calvaria morphology	23116	TOGARAM1	ORPHA:475
HP:0002683	Abnormal calvaria morphology	25776	CBY1	ORPHA:475
HP:0002683	Abnormal calvaria morphology	27077	B9D1	ORPHA:475
HP:0002683	Abnormal calvaria morphology	403	ARL3	ORPHA:475
HP:0002683	Abnormal calvaria morphology	80173	IFT74	ORPHA:475
HP:0002683	Abnormal calvaria morphology	65062	TMEM237	ORPHA:475
HP:0002683	Abnormal calvaria morphology	65062	TMEM237	ORPHA:2318
HP:0002683	Abnormal calvaria morphology	65062	TMEM237	ORPHA:220497
HP:0002683	Abnormal calvaria morphology	6309	SC5D	ORPHA:46059
HP:0002683	Abnormal calvaria morphology	9326	ZNHIT3	ORPHA:2836
HP:0002683	Abnormal calvaria morphology	85378	TUBGCP6	ORPHA:2518
HP:0002683	Abnormal calvaria morphology	27229	TUBGCP4	ORPHA:2518
HP:0002683	Abnormal calvaria morphology	5604	MAP2K1	ORPHA:1340
HP:0002683	Abnormal calvaria morphology	5605	MAP2K2	ORPHA:1340
HP:0002683	Abnormal calvaria morphology	79583	TMEM231	ORPHA:2318
HP:0002683	Abnormal calvaria morphology	79583	TMEM231	ORPHA:2754
HP:0002683	Abnormal calvaria morphology	51524	TMEM138	ORPHA:2318
HP:0002683	Abnormal calvaria morphology	23090	ZNF423	ORPHA:2318
HP:0002683	Abnormal calvaria morphology	80184	CEP290	ORPHA:2318
HP:0002683	Abnormal calvaria morphology	57545	CC2D2A	ORPHA:2318
HP:0002683	Abnormal calvaria morphology	57545	CC2D2A	ORPHA:1454
HP:0002683	Abnormal calvaria morphology	10210	TOPORS	ORPHA:2754
HP:0002683	Abnormal calvaria morphology	317662	FAM149B1	ORPHA:2754
HP:0002683	Abnormal calvaria morphology	374654	KIF7	ORPHA:2754
HP:0002683	Abnormal calvaria morphology	23322	RPGRIP1L	ORPHA:220497
HP:0002683	Abnormal calvaria morphology	23322	RPGRIP1L	ORPHA:1454
HP:0002683	Abnormal calvaria morphology	4867	NPHP1	ORPHA:220497
HP:0002683	Abnormal calvaria morphology	4212	MEIS2	ORPHA:261190
HP:0002683	Abnormal calvaria morphology	8450	CUL4B	ORPHA:85293
HP:0002683	Abnormal calvaria morphology	1717	DHCR7	ORPHA:818
HP:0002683	Abnormal calvaria morphology	57192	MCOLN1	ORPHA:578
HP:0002683	Abnormal calvaria morphology	50964	SOST	ORPHA:3416
HP:0002683	Abnormal calvaria morphology	8792	TNFRSF11A	ORPHA:2801
HP:0002683	Abnormal calvaria morphology	57187	THOC2	ORPHA:457240
HP:0002683	Abnormal calvaria morphology	28962	OSTM1	OMIM:259720
HP:0002683	Abnormal calvaria morphology	7840	ALMS1	ORPHA:64
HP:0002683	Abnormal calvaria morphology	7840	ALMS1	OMIM:203800
HP:0002683	Abnormal calvaria morphology	1513	CTSK	ORPHA:763
HP:0002683	Abnormal calvaria morphology	54928	BPNT2	OMIM:614078
HP:0002683	Abnormal calvaria morphology	5422	POLA1	ORPHA:163976
HP:0002683	Abnormal calvaria morphology	1788	DNMT3A	OMIM:615879
HP:0002683	Abnormal calvaria morphology	169792	GLIS3	OMIM:610199
HP:0002683	Abnormal calvaria morphology	57282	SLC4A10	OMIM:620746
HP:0002683	Abnormal calvaria morphology	53834	FGFRL1	OMIM:194190
HP:0002683	Abnormal calvaria morphology	23516	SLC39A14	OMIM:144755
HP:0002683	Abnormal calvaria morphology	84701	COX4I2	OMIM:612714
HP:0002683	Abnormal calvaria morphology	55315	SLC29A3	ORPHA:1782
HP:0002683	Abnormal calvaria morphology	6916	TBXAS1	ORPHA:1802
HP:0002683	Abnormal calvaria morphology	7507	XPA	ORPHA:910
HP:0002683	Abnormal calvaria morphology	7508	XPC	ORPHA:910
HP:0002683	Abnormal calvaria morphology	1643	DDB2	ORPHA:910
HP:0002683	Abnormal calvaria morphology	2073	ERCC5	ORPHA:910
HP:0002683	Abnormal calvaria morphology	142680	SLC34A3	OMIM:241530
HP:0002683	Abnormal calvaria morphology	1594	CYP27B1	ORPHA:289157
HP:0002683	Abnormal calvaria morphology	1594	CYP27B1	OMIM:264700
HP:0002683	Abnormal calvaria morphology	120227	CYP2R1	ORPHA:289157
HP:0002683	Abnormal calvaria morphology	120227	CYP2R1	OMIM:600081
HP:0002683	Abnormal calvaria morphology	6228	RPS23	OMIM:617412
HP:0002683	Abnormal calvaria morphology	4762	NEUROG1	OMIM:620469
HP:0002683	Abnormal calvaria morphology	3098	HK1	OMIM:618547
HP:0002683	Abnormal calvaria morphology	84942	WDR73	OMIM:251300
HP:0002683	Abnormal calvaria morphology	23345	SYNE1	ORPHA:319332
HP:0002683	Abnormal calvaria morphology	6872	TAF1	OMIM:300966
HP:0002683	Abnormal calvaria morphology	23067	SETD1B	OMIM:619000
HP:0002683	Abnormal calvaria morphology	51506	UFC1	OMIM:618076
HP:0002683	Abnormal calvaria morphology	55784	MCTP2	ORPHA:1596
HP:0002683	Abnormal calvaria morphology	4952	OCRL	ORPHA:534
HP:0002683	Abnormal calvaria morphology	4948	OCA2	ORPHA:98794
HP:0002683	Abnormal calvaria morphology	10559	SLC35A1	OMIM:603585
HP:0002683	Abnormal calvaria morphology	259266	ASPM	OMIM:608716
HP:0002683	Abnormal calvaria morphology	2146	EZH2	OMIM:277590
HP:0002683	Abnormal calvaria morphology	8604	SLC25A12	OMIM:612949
HP:0002683	Abnormal calvaria morphology	54968	TMEM70	OMIM:614052
HP:0002683	Abnormal calvaria morphology	3832	KIF11	OMIM:152950
HP:0002683	Abnormal calvaria morphology	124512	METTL23	OMIM:615942
HP:0002683	Abnormal calvaria morphology	90993	CREB3L1	OMIM:616229
HP:0002683	Abnormal calvaria morphology	79770	TXNDC15	OMIM:619879
HP:0002683	Abnormal calvaria morphology	5479	PPIB	OMIM:259440
HP:0002683	Abnormal calvaria morphology	871	SERPINH1	OMIM:613848
HP:0002683	Abnormal calvaria morphology	10269	ZMPSTE24	OMIM:275210
HP:0002683	Abnormal calvaria morphology	3911	LAMA5	OMIM:620076
HP:0002683	Abnormal calvaria morphology	64175	P3H1	OMIM:610915
HP:0002683	Abnormal calvaria morphology	5159	PDGFRB	OMIM:601812
HP:0002683	Abnormal calvaria morphology	222663	SCUBE3	OMIM:619184
HP:0002683	Abnormal calvaria morphology	8294	H4C9	OMIM:619951
HP:0002683	Abnormal calvaria morphology	2890	GRIA1	OMIM:619927
HP:0002683	Abnormal calvaria morphology	781	CACNA2D1	OMIM:620149
HP:0002683	Abnormal calvaria morphology	79087	ALG12	ORPHA:79324
HP:0002683	Abnormal calvaria morphology	4659	PPP1R12A	OMIM:618820
HP:0002683	Abnormal calvaria morphology	56992	KIF15	ORPHA:261323
HP:0002683	Abnormal calvaria morphology	372	ARCN1	OMIM:617164
HP:0002683	Abnormal calvaria morphology	23545	ATP6V0A2	OMIM:278250
HP:0002683	Abnormal calvaria morphology	55753	OGDHL	OMIM:619701
HP:0002683	Abnormal calvaria morphology	55623	THUMPD1	OMIM:619989
HP:0002683	Abnormal calvaria morphology	6329	SCN4A	OMIM:620351
HP:0002683	Abnormal calvaria morphology	3762	KCNJ5	ORPHA:37553
HP:0002683	Abnormal calvaria morphology	3759	KCNJ2	ORPHA:37553
HP:0002683	Abnormal calvaria morphology	1499	CTNNB1	ORPHA:54595
HP:0020222	Hypohomocysteinemia	4780	NFE2L2	OMIM:617744
HP:0020221	Clonic seizure	50801	KCNK4	OMIM:618381
HP:0020221	Clonic seizure	8504	PEX3	OMIM:617370
HP:0020221	Clonic seizure	9211	LGI1	OMIM:600512
HP:0020221	Clonic seizure	5649	RELN	OMIM:600512
HP:0020221	Clonic seizure	64780	MICAL1	OMIM:600512
HP:0020221	Clonic seizure	3785	KCNQ2	ORPHA:1949
HP:0020221	Clonic seizure	3785	KCNQ2	ORPHA:140927
HP:0020221	Clonic seizure	3785	KCNQ2	ORPHA:306
HP:0020221	Clonic seizure	3785	KCNQ2	OMIM:121200
HP:0020221	Clonic seizure	3786	KCNQ3	ORPHA:1949
HP:0020221	Clonic seizure	3786	KCNQ3	ORPHA:306
HP:0020221	Clonic seizure	3786	KCNQ3	OMIM:121201
HP:0020221	Clonic seizure	23312	DMXL2	OMIM:618663
HP:0020221	Clonic seizure	51741	WWOX	OMIM:616211
HP:0020221	Clonic seizure	5277	PIGA	OMIM:300868
HP:0020221	Clonic seizure	132158	GLYCTK	OMIM:220120
HP:0020221	Clonic seizure	2752	GLUL	OMIM:620806
HP:0020221	Clonic seizure	6487	ST3GAL3	OMIM:615006
HP:0020221	Clonic seizure	51294	PCDH12	OMIM:251280
HP:0020221	Clonic seizure	53616	ADAM22	OMIM:617933
HP:0020221	Clonic seizure	55325	UFSP2	OMIM:620028
HP:0020221	Clonic seizure	23732	FRRS1L	ORPHA:725
HP:0020221	Clonic seizure	2903	GRIN2A	ORPHA:725
HP:0020221	Clonic seizure	112476	PRRT2	ORPHA:306
HP:0020221	Clonic seizure	57582	KCNT1	OMIM:614959
HP:0020221	Clonic seizure	9568	GABBR2	OMIM:617904
HP:0020221	Clonic seizure	284058	KANSL1	ORPHA:363965
HP:0020221	Clonic seizure	284058	KANSL1	ORPHA:363958
HP:0020221	Clonic seizure	23316	CUX2	OMIM:618141
HP:0020221	Clonic seizure	51117	COQ4	OMIM:616276
HP:0020221	Clonic seizure	57468	SLC12A5	OMIM:616645
HP:0020221	Clonic seizure	57468	SLC12A5	ORPHA:293181
HP:0020221	Clonic seizure	50485	SMARCAL1	ORPHA:1830
HP:0020221	Clonic seizure	478	ATP1A3	OMIM:619606
HP:0020221	Clonic seizure	2782	GNB1	OMIM:616973
HP:0020221	Clonic seizure	23236	PLCB1	ORPHA:293181
HP:0020221	Clonic seizure	51343	FZR1	OMIM:620145
HP:0020221	Clonic seizure	27286	SRPX2	ORPHA:1945
HP:0020221	Clonic seizure	6323	SCN1A	OMIM:607208
HP:0020221	Clonic seizure	6323	SCN1A	ORPHA:33069
HP:0020221	Clonic seizure	57526	PCDH19	ORPHA:101039
HP:0020221	Clonic seizure	57526	PCDH19	ORPHA:33069
HP:0020221	Clonic seizure	197322	ACSF3	ORPHA:289504
HP:0020221	Clonic seizure	197322	ACSF3	OMIM:614265
HP:0020221	Clonic seizure	8818	DPM2	ORPHA:329178
HP:0020221	Clonic seizure	6304	SATB1	OMIM:619229
HP:0020221	Clonic seizure	6792	CDKL5	ORPHA:1934
HP:0020221	Clonic seizure	3736	KCNA1	ORPHA:1934
HP:0020221	Clonic seizure	9091	PIGQ	ORPHA:1934
HP:0020221	Clonic seizure	140679	SLC32A1	ORPHA:1934
HP:0020221	Clonic seizure	2775	GNAO1	ORPHA:1934
HP:0020221	Clonic seizure	81603	TRIM8	ORPHA:1934
HP:0020221	Clonic seizure	2902	GRIN1	ORPHA:1934
HP:0020221	Clonic seizure	79751	SLC25A22	ORPHA:1934
HP:0020221	Clonic seizure	150094	SIK1	ORPHA:1934
HP:0020221	Clonic seizure	8573	CASK	ORPHA:1934
HP:0020221	Clonic seizure	2917	GRM7	ORPHA:1934
HP:0020221	Clonic seizure	170302	ARX	ORPHA:1934
HP:0020221	Clonic seizure	11284	PNKP	ORPHA:1934
HP:0020221	Clonic seizure	51227	PIGP	ORPHA:1934
HP:0020221	Clonic seizure	6324	SCN1B	ORPHA:1934
HP:0020221	Clonic seizure	6324	SCN1B	ORPHA:33069
HP:0020221	Clonic seizure	4761	NEUROD2	ORPHA:1934
HP:0020221	Clonic seizure	6335	SCN9A	ORPHA:33069
HP:0020221	Clonic seizure	2554	GABRA1	ORPHA:33069
HP:0020221	Clonic seizure	2566	GABRG2	ORPHA:33069
HP:0020221	Clonic seizure	11212	PLPBP	OMIM:617290
HP:0020221	Clonic seizure	3798	KIF5A	OMIM:617235
HP:0020221	Clonic seizure	440	ASNS	OMIM:615574
HP:0020221	Clonic seizure	348980	HCN1	OMIM:615871
HP:0020221	Clonic seizure	6711	SPTBN1	OMIM:619475
HP:0020221	Clonic seizure	23241	PACS2	OMIM:618067
HP:0020221	Clonic seizure	535	ATP6V0A1	OMIM:619970
HP:0020221	Clonic seizure	6326	SCN2A	OMIM:618924
HP:0020221	Clonic seizure	6328	SCN3A	OMIM:617935
HP:0020221	Clonic seizure	57465	TBC1D24	OMIM:615338
HP:0020221	Clonic seizure	6050	RNH1	OMIM:620461
HP:0020221	Clonic seizure	162417	NAGS	OMIM:237310
HP:0020221	Clonic seizure	501	ALDH7A1	OMIM:266100
HP:0020221	Clonic seizure	2898	GRIK2	OMIM:619580
HP:0020221	Clonic seizure	23258	DENND5A	OMIM:617281
HP:0020221	Clonic seizure	3800	KIF5C	OMIM:615282
HP:0020221	Clonic seizure	523	ATP6V1A	OMIM:618012
HP:0020221	Clonic seizure	477	ATP1A2	OMIM:619605
HP:0020221	Clonic seizure	27133	KCNH5	OMIM:620537
HP:0020221	Clonic seizure	6334	SCN8A	OMIM:614558
HP:0020221	Clonic seizure	27010	TPK1	OMIM:614458
HP:0020221	Clonic seizure	78987	CRELD1	OMIM:620771
HP:0020221	Clonic seizure	2891	GRIA2	OMIM:618917
HP:0020221	Clonic seizure	63908	NAPB	OMIM:620033
HP:0020221	Clonic seizure	5660	PSAP	OMIM:610539
HP:0020221	Clonic seizure	1759	DNM1	OMIM:620352
HP:0020221	Clonic seizure	1353	COX11	OMIM:620275
HP:0020221	Clonic seizure	781	CACNA2D1	OMIM:620149
HP:0020223	Dermal sinus tract	81839	VANGL1	OMIM:600145
HP:0020223	Dermal sinus tract	344167	FOXI3	OMIM:620444
HP:0041043	Neutrophil nuclear clefts	1053	CEBPE	OMIM:245480
HP:0041050	Renal tubular cyst	22909	FAN1	OMIM:614817
HP:0041048	Decreased expression of GPI-anchored proteins on the cell surface	10026	PIGK	OMIM:618879
HP:0041046	Increased neutrophil ribosomes	1053	CEBPE	OMIM:245480
HP:0041044	Low neutrophil alkaline phosphatase	1053	CEBPE	OMIM:245480
HP:0041045	Increased neutrophil mitochondria	1053	CEBPE	OMIM:245480
HP:0002650	Scoliosis	5290	PIK3CA	ORPHA:276280
HP:0002650	Scoliosis	5290	PIK3CA	ORPHA:221061
HP:0002650	Scoliosis	5290	PIK3CA	OMIM:612918
HP:0002650	Scoliosis	5290	PIK3CA	ORPHA:201
HP:0002650	Scoliosis	5290	PIK3CA	ORPHA:140944
HP:0002650	Scoliosis	5290	PIK3CA	OMIM:615108
HP:0002650	Scoliosis	875	CBS	ORPHA:394
HP:0002650	Scoliosis	875	CBS	OMIM:236200
HP:0002650	Scoliosis	26235	FBXL4	OMIM:615471
HP:0002650	Scoliosis	6910	TBX5	ORPHA:392
HP:0002650	Scoliosis	51399	TRAPPC4	OMIM:618741
HP:0002650	Scoliosis	8216	LZTR1	OMIM:616564
HP:0002650	Scoliosis	8216	LZTR1	ORPHA:93921
HP:0002650	Scoliosis	8216	LZTR1	OMIM:605275
HP:0002650	Scoliosis	8216	LZTR1	ORPHA:648
HP:0002650	Scoliosis	4593	MUSK	OMIM:616325
HP:0002650	Scoliosis	4593	MUSK	ORPHA:994
HP:0002650	Scoliosis	4593	MUSK	ORPHA:98913
HP:0002650	Scoliosis	134701	RIPPLY2	OMIM:616566
HP:0002650	Scoliosis	134701	RIPPLY2	ORPHA:2311
HP:0002650	Scoliosis	4897	NRCAM	OMIM:619833
HP:0002650	Scoliosis	1134	CHRNA1	OMIM:608930
HP:0002650	Scoliosis	1134	CHRNA1	ORPHA:98913
HP:0002650	Scoliosis	1131	CHRM3	ORPHA:2970
HP:0002650	Scoliosis	10159	ATP6AP2	ORPHA:93952
HP:0002650	Scoliosis	55209	SETD5	ORPHA:404440
HP:0002650	Scoliosis	55209	SETD5	OMIM:615761
HP:0002650	Scoliosis	6687	SPG7	ORPHA:99013
HP:0002650	Scoliosis	6687	SPG7	OMIM:607259
HP:0002650	Scoliosis	5631	PRPS1	ORPHA:99014
HP:0002650	Scoliosis	6662	SOX9	ORPHA:140
HP:0002650	Scoliosis	6662	SOX9	OMIM:114290
HP:0002650	Scoliosis	9578	CDC42BPB	OMIM:619841
HP:0002650	Scoliosis	80816	ASXL3	OMIM:615485
HP:0002650	Scoliosis	80816	ASXL3	ORPHA:352577
HP:0002650	Scoliosis	1855	DVL1	OMIM:616331
HP:0002650	Scoliosis	1855	DVL1	ORPHA:3107
HP:0002650	Scoliosis	23322	RPGRIP1L	ORPHA:220497
HP:0002650	Scoliosis	23322	RPGRIP1L	ORPHA:1454
HP:0002650	Scoliosis	23322	RPGRIP1L	OMIM:611560
HP:0002650	Scoliosis	4867	NPHP1	ORPHA:220497
HP:0002650	Scoliosis	65062	TMEM237	ORPHA:220497
HP:0002650	Scoliosis	65062	TMEM237	ORPHA:2318
HP:0002650	Scoliosis	65062	TMEM237	ORPHA:475
HP:0002650	Scoliosis	27245	AHDC1	ORPHA:412069
HP:0002650	Scoliosis	166378	AFG2A	OMIM:616577
HP:0002650	Scoliosis	166378	AFG2A	ORPHA:457351
HP:0002650	Scoliosis	7532	YWHAG	OMIM:617665
HP:0002650	Scoliosis	84466	MEGF10	OMIM:614399
HP:0002650	Scoliosis	84466	MEGF10	OMIM:620249
HP:0002650	Scoliosis	54806	AHI1	ORPHA:220493
HP:0002650	Scoliosis	54806	AHI1	ORPHA:475
HP:0002650	Scoliosis	56623	INPP5E	ORPHA:220493
HP:0002650	Scoliosis	56623	INPP5E	ORPHA:1454
HP:0002650	Scoliosis	56623	INPP5E	ORPHA:475
HP:0002650	Scoliosis	153241	CEP120	ORPHA:220493
HP:0002650	Scoliosis	153241	CEP120	ORPHA:475
HP:0002650	Scoliosis	54903	MKS1	ORPHA:220493
HP:0002650	Scoliosis	54903	MKS1	ORPHA:475
HP:0002650	Scoliosis	95681	CEP41	ORPHA:220493
HP:0002650	Scoliosis	95681	CEP41	ORPHA:475
HP:0002650	Scoliosis	84197	POMK	OMIM:615249
HP:0002650	Scoliosis	2132	EXT2	ORPHA:466926
HP:0002650	Scoliosis	2132	EXT2	OMIM:616682
HP:0002650	Scoliosis	51112	TRAPPC12	OMIM:617669
HP:0002650	Scoliosis	51112	TRAPPC12	ORPHA:500144
HP:0002650	Scoliosis	55768	NGLY1	ORPHA:404454
HP:0002650	Scoliosis	55768	NGLY1	OMIM:615273
HP:0002650	Scoliosis	55636	CHD7	ORPHA:138
HP:0002650	Scoliosis	55636	CHD7	OMIM:214800
HP:0002650	Scoliosis	9723	SEMA3E	ORPHA:138
HP:0002650	Scoliosis	4625	MYH7	OMIM:160500
HP:0002650	Scoliosis	4625	MYH7	ORPHA:324604
HP:0002650	Scoliosis	4625	MYH7	OMIM:255160
HP:0002650	Scoliosis	4625	MYH7	ORPHA:59135
HP:0002650	Scoliosis	90	ACVR1	OMIM:135100
HP:0002650	Scoliosis	90	ACVR1	ORPHA:337
HP:0002650	Scoliosis	6023	RMRP	ORPHA:175
HP:0002650	Scoliosis	6023	RMRP	OMIM:250250
HP:0002650	Scoliosis	1513	CTSK	OMIM:265800
HP:0002650	Scoliosis	1513	CTSK	ORPHA:763
HP:0002650	Scoliosis	55154	MSTO1	OMIM:617675
HP:0002650	Scoliosis	55154	MSTO1	ORPHA:502423
HP:0002650	Scoliosis	54453	RIN2	OMIM:613075
HP:0002650	Scoliosis	54453	RIN2	ORPHA:217335
HP:0002650	Scoliosis	113189	CHST14	ORPHA:2953
HP:0002650	Scoliosis	113189	CHST14	OMIM:601776
HP:0002650	Scoliosis	29940	DSE	ORPHA:2953
HP:0002650	Scoliosis	79029	AFG2B	OMIM:619616
HP:0002650	Scoliosis	54880	BCOR	ORPHA:2712
HP:0002650	Scoliosis	54880	BCOR	ORPHA:568
HP:0002650	Scoliosis	54880	BCOR	OMIM:300166
HP:0002650	Scoliosis	54880	BCOR	OMIM:309800
HP:0002650	Scoliosis	3064	HTT	OMIM:617435
HP:0002650	Scoliosis	81857	MED25	ORPHA:464738
HP:0002650	Scoliosis	81857	MED25	OMIM:616449
HP:0002650	Scoliosis	3572	IL6ST	OMIM:618523
HP:0002650	Scoliosis	3572	IL6ST	OMIM:619751
HP:0002650	Scoliosis	3572	IL6ST	OMIM:619752
HP:0002650	Scoliosis	3572	IL6ST	OMIM:619750
HP:0002650	Scoliosis	4604	MYBPC1	OMIM:618524
HP:0002650	Scoliosis	84100	ARL6	OMIM:209900
HP:0002650	Scoliosis	79140	CCDC28B	OMIM:209900
HP:0002650	Scoliosis	582	BBS1	OMIM:209900
HP:0002650	Scoliosis	59341	TRPV4	OMIM:113500
HP:0002650	Scoliosis	59341	TRPV4	OMIM:600175
HP:0002650	Scoliosis	59341	TRPV4	OMIM:181405
HP:0002650	Scoliosis	59341	TRPV4	OMIM:168400
HP:0002650	Scoliosis	59341	TRPV4	OMIM:156530
HP:0002650	Scoliosis	59341	TRPV4	OMIM:606071
HP:0002650	Scoliosis	59341	TRPV4	OMIM:184252
HP:0002650	Scoliosis	59341	TRPV4	ORPHA:93314
HP:0002650	Scoliosis	59341	TRPV4	ORPHA:2635
HP:0002650	Scoliosis	4620	MYH2	OMIM:605637
HP:0002650	Scoliosis	9401	RECQL4	OMIM:218600
HP:0002650	Scoliosis	9401	RECQL4	ORPHA:1225
HP:0002650	Scoliosis	79147	FKRP	ORPHA:34515
HP:0002650	Scoliosis	79147	FKRP	ORPHA:370968
HP:0002650	Scoliosis	79147	FKRP	OMIM:606612
HP:0002650	Scoliosis	79147	FKRP	OMIM:607155
HP:0002650	Scoliosis	10484	SEC23A	OMIM:607812
HP:0002650	Scoliosis	10484	SEC23A	ORPHA:50814
HP:0002650	Scoliosis	5159	PDGFRB	OMIM:616592
HP:0002650	Scoliosis	5159	PDGFRB	OMIM:601812
HP:0002650	Scoliosis	2200	FBN1	OMIM:604308
HP:0002650	Scoliosis	2200	FBN1	OMIM:608328
HP:0002650	Scoliosis	2200	FBN1	OMIM:154700
HP:0002650	Scoliosis	2200	FBN1	ORPHA:2462
HP:0002650	Scoliosis	2200	FBN1	OMIM:129600
HP:0002650	Scoliosis	2200	FBN1	ORPHA:91387
HP:0002650	Scoliosis	5528	PPP2R5D	OMIM:616355
HP:0002650	Scoliosis	5528	PPP2R5D	ORPHA:457279
HP:0002650	Scoliosis	57231	SNX14	OMIM:616354
HP:0002650	Scoliosis	4771	NF2	ORPHA:93921
HP:0002650	Scoliosis	6598	SMARCB1	ORPHA:93921
HP:0002650	Scoliosis	6598	SMARCB1	ORPHA:1465
HP:0002650	Scoliosis	6598	SMARCB1	OMIM:614608
HP:0002650	Scoliosis	51004	COQ6	ORPHA:93921
HP:0002650	Scoliosis	28514	DLL1	ORPHA:93926
HP:0002650	Scoliosis	28514	DLL1	ORPHA:93924
HP:0002650	Scoliosis	28514	DLL1	ORPHA:93925
HP:0002650	Scoliosis	28514	DLL1	ORPHA:220386
HP:0002650	Scoliosis	28514	DLL1	ORPHA:280200
HP:0002650	Scoliosis	2253	FGF8	ORPHA:93926
HP:0002650	Scoliosis	2253	FGF8	ORPHA:93924
HP:0002650	Scoliosis	2253	FGF8	ORPHA:93925
HP:0002650	Scoliosis	2253	FGF8	ORPHA:220386
HP:0002650	Scoliosis	2253	FGF8	ORPHA:280200
HP:0002650	Scoliosis	6496	SIX3	ORPHA:93926
HP:0002650	Scoliosis	6496	SIX3	ORPHA:93924
HP:0002650	Scoliosis	6496	SIX3	ORPHA:93925
HP:0002650	Scoliosis	6496	SIX3	ORPHA:220386
HP:0002650	Scoliosis	6496	SIX3	OMIM:157170
HP:0002650	Scoliosis	6496	SIX3	ORPHA:280200
HP:0002650	Scoliosis	7050	TGIF1	ORPHA:93926
HP:0002650	Scoliosis	7050	TGIF1	ORPHA:93924
HP:0002650	Scoliosis	7050	TGIF1	ORPHA:93925
HP:0002650	Scoliosis	7050	TGIF1	ORPHA:220386
HP:0002650	Scoliosis	7050	TGIF1	ORPHA:280200
HP:0002650	Scoliosis	4838	NODAL	ORPHA:93926
HP:0002650	Scoliosis	4838	NODAL	ORPHA:93924
HP:0002650	Scoliosis	4838	NODAL	ORPHA:93925
HP:0002650	Scoliosis	4838	NODAL	ORPHA:220386
HP:0002650	Scoliosis	4838	NODAL	ORPHA:280200
HP:0002650	Scoliosis	6469	SHH	ORPHA:93926
HP:0002650	Scoliosis	6469	SHH	ORPHA:93924
HP:0002650	Scoliosis	6469	SHH	ORPHA:93925
HP:0002650	Scoliosis	6469	SHH	ORPHA:220386
HP:0002650	Scoliosis	6469	SHH	ORPHA:280200
HP:0002650	Scoliosis	7546	ZIC2	ORPHA:93926
HP:0002650	Scoliosis	7546	ZIC2	ORPHA:93924
HP:0002650	Scoliosis	7546	ZIC2	ORPHA:93925
HP:0002650	Scoliosis	7546	ZIC2	ORPHA:220386
HP:0002650	Scoliosis	7546	ZIC2	ORPHA:280200
HP:0002650	Scoliosis	6491	STIL	ORPHA:93926
HP:0002650	Scoliosis	6491	STIL	ORPHA:93924
HP:0002650	Scoliosis	6491	STIL	ORPHA:93925
HP:0002650	Scoliosis	6491	STIL	ORPHA:220386
HP:0002650	Scoliosis	2619	GAS1	ORPHA:93926
HP:0002650	Scoliosis	2619	GAS1	ORPHA:93924
HP:0002650	Scoliosis	2619	GAS1	ORPHA:93925
HP:0002650	Scoliosis	2619	GAS1	ORPHA:220386
HP:0002650	Scoliosis	2619	GAS1	ORPHA:280200
HP:0002650	Scoliosis	84976	DISP1	ORPHA:93926
HP:0002650	Scoliosis	84976	DISP1	ORPHA:93924
HP:0002650	Scoliosis	84976	DISP1	ORPHA:93925
HP:0002650	Scoliosis	84976	DISP1	ORPHA:220386
HP:0002650	Scoliosis	84976	DISP1	ORPHA:280200
HP:0002650	Scoliosis	2736	GLI2	ORPHA:93926
HP:0002650	Scoliosis	2736	GLI2	ORPHA:93924
HP:0002650	Scoliosis	2736	GLI2	ORPHA:93925
HP:0002650	Scoliosis	2736	GLI2	ORPHA:220386
HP:0002650	Scoliosis	2736	GLI2	ORPHA:280200
HP:0002650	Scoliosis	8928	FOXH1	ORPHA:93926
HP:0002650	Scoliosis	8928	FOXH1	ORPHA:93924
HP:0002650	Scoliosis	8928	FOXH1	ORPHA:93925
HP:0002650	Scoliosis	8928	FOXH1	ORPHA:220386
HP:0002650	Scoliosis	8928	FOXH1	ORPHA:280200
HP:0002650	Scoliosis	6997	CRIPTO	ORPHA:93926
HP:0002650	Scoliosis	6997	CRIPTO	ORPHA:93924
HP:0002650	Scoliosis	6997	CRIPTO	ORPHA:93925
HP:0002650	Scoliosis	6997	CRIPTO	ORPHA:220386
HP:0002650	Scoliosis	6997	CRIPTO	ORPHA:280200
HP:0002650	Scoliosis	5727	PTCH1	ORPHA:93926
HP:0002650	Scoliosis	5727	PTCH1	ORPHA:93924
HP:0002650	Scoliosis	5727	PTCH1	ORPHA:93925
HP:0002650	Scoliosis	5727	PTCH1	ORPHA:377
HP:0002650	Scoliosis	5727	PTCH1	OMIM:109400
HP:0002650	Scoliosis	5727	PTCH1	ORPHA:220386
HP:0002650	Scoliosis	5727	PTCH1	ORPHA:280200
HP:0002650	Scoliosis	50937	CDON	ORPHA:93926
HP:0002650	Scoliosis	50937	CDON	ORPHA:93924
HP:0002650	Scoliosis	50937	CDON	ORPHA:93925
HP:0002650	Scoliosis	50937	CDON	ORPHA:220386
HP:0002650	Scoliosis	50937	CDON	ORPHA:280200
HP:0002650	Scoliosis	2260	FGFR1	ORPHA:93924
HP:0002650	Scoliosis	2260	FGFR1	ORPHA:220386
HP:0002650	Scoliosis	2260	FGFR1	ORPHA:280200
HP:0002650	Scoliosis	2260	FGFR1	ORPHA:2645
HP:0002650	Scoliosis	23007	PLCH1	ORPHA:93925
HP:0002650	Scoliosis	10735	STAG2	ORPHA:93925
HP:0002650	Scoliosis	10735	STAG2	OMIM:301022
HP:0002650	Scoliosis	10735	STAG2	ORPHA:220386
HP:0002650	Scoliosis	6905	TBCE	OMIM:617207
HP:0002650	Scoliosis	6905	TBCE	ORPHA:496756
HP:0002650	Scoliosis	26834	RNU4-2	OMIM:620851
HP:0002650	Scoliosis	4747	NEFL	ORPHA:101085
HP:0002650	Scoliosis	4747	NEFL	OMIM:607684
HP:0002650	Scoliosis	2316	FLNA	ORPHA:90652
HP:0002650	Scoliosis	2316	FLNA	ORPHA:1826
HP:0002650	Scoliosis	2316	FLNA	ORPHA:555877
HP:0002650	Scoliosis	2316	FLNA	OMIM:305620
HP:0002650	Scoliosis	2316	FLNA	ORPHA:88630
HP:0002650	Scoliosis	2316	FLNA	ORPHA:98892
HP:0002650	Scoliosis	2316	FLNA	ORPHA:2484
HP:0002650	Scoliosis	2316	FLNA	OMIM:311300
HP:0002650	Scoliosis	81794	ADAMTS10	OMIM:277600
HP:0002650	Scoliosis	4359	MPZ	ORPHA:101082
HP:0002650	Scoliosis	4359	MPZ	OMIM:618184
HP:0002650	Scoliosis	4359	MPZ	ORPHA:3115
HP:0002650	Scoliosis	4359	MPZ	OMIM:145900
HP:0002650	Scoliosis	6445	SGCG	ORPHA:353
HP:0002650	Scoliosis	6445	SGCG	OMIM:253700
HP:0002650	Scoliosis	79659	DYNC2H1	OMIM:613091
HP:0002650	Scoliosis	11285	B4GALT7	OMIM:130070
HP:0002650	Scoliosis	9131	AIFM1	ORPHA:101078
HP:0002650	Scoliosis	5518	PPP2R1A	OMIM:616362
HP:0002650	Scoliosis	5518	PPP2R1A	ORPHA:457284
HP:0002650	Scoliosis	5034	P4HB	OMIM:112240
HP:0002650	Scoliosis	5034	P4HB	ORPHA:2050
HP:0002650	Scoliosis	23126	POGZ	OMIM:616364
HP:0002650	Scoliosis	51633	OTUD6B	OMIM:617452
HP:0002650	Scoliosis	51633	OTUD6B	ORPHA:505237
HP:0002650	Scoliosis	57167	SALL4	OMIM:147750
HP:0002650	Scoliosis	57167	SALL4	ORPHA:2307
HP:0002650	Scoliosis	57167	SALL4	OMIM:607323
HP:0002650	Scoliosis	5604	MAP2K1	OMIM:615279
HP:0002650	Scoliosis	5604	MAP2K1	ORPHA:1340
HP:0002650	Scoliosis	3098	HK1	OMIM:618547
HP:0002650	Scoliosis	3098	HK1	OMIM:605285
HP:0002650	Scoliosis	3098	HK1	ORPHA:99953
HP:0002650	Scoliosis	9091	PIGQ	OMIM:618548
HP:0002650	Scoliosis	5728	PTEN	ORPHA:109
HP:0002650	Scoliosis	5728	PTEN	ORPHA:201
HP:0002650	Scoliosis	5728	PTEN	OMIM:158350
HP:0002650	Scoliosis	5590	PRKCZ	ORPHA:1606
HP:0002650	Scoliosis	2563	GABRD	ORPHA:1606
HP:0002650	Scoliosis	23013	SPEN	ORPHA:1606
HP:0002650	Scoliosis	23013	SPEN	OMIM:619312
HP:0002650	Scoliosis	8510	MMP23B	ORPHA:1606
HP:0002650	Scoliosis	7798	LUZP1	ORPHA:1606
HP:0002650	Scoliosis	6497	SKI	ORPHA:1606
HP:0002650	Scoliosis	6497	SKI	ORPHA:2462
HP:0002650	Scoliosis	6497	SKI	OMIM:182212
HP:0002650	Scoliosis	10630	PDPN	ORPHA:1606
HP:0002650	Scoliosis	3339	HSPG2	ORPHA:1606
HP:0002650	Scoliosis	3339	HSPG2	OMIM:255800
HP:0002650	Scoliosis	3339	HSPG2	ORPHA:800
HP:0002650	Scoliosis	10277	UBE4B	ORPHA:1606
HP:0002650	Scoliosis	8514	KCNAB2	ORPHA:1606
HP:0002650	Scoliosis	473	RERE	ORPHA:1606
HP:0002650	Scoliosis	473	RERE	ORPHA:494344
HP:0002650	Scoliosis	473	RERE	OMIM:616975
HP:0002650	Scoliosis	63976	PRDM16	ORPHA:1606
HP:0002650	Scoliosis	54897	CASZ1	ORPHA:1606
HP:0002650	Scoliosis	2705	GJB1	ORPHA:101075
HP:0002650	Scoliosis	2705	GJB1	ORPHA:1175
HP:0002650	Scoliosis	58	ACTA1	OMIM:161800
HP:0002650	Scoliosis	58	ACTA1	ORPHA:97244
HP:0002650	Scoliosis	58	ACTA1	ORPHA:171436
HP:0002650	Scoliosis	58	ACTA1	ORPHA:2020
HP:0002650	Scoliosis	58	ACTA1	ORPHA:171439
HP:0002650	Scoliosis	58	ACTA1	OMIM:616852
HP:0002650	Scoliosis	1859	DYRK1A	ORPHA:464311
HP:0002650	Scoliosis	1859	DYRK1A	ORPHA:268261
HP:0002650	Scoliosis	1311	COMP	OMIM:177170
HP:0002650	Scoliosis	1311	COMP	ORPHA:750
HP:0002650	Scoliosis	2990	GUSB	ORPHA:584
HP:0002650	Scoliosis	2990	GUSB	OMIM:253220
HP:0002650	Scoliosis	79718	TBL1XR1	OMIM:602342
HP:0002650	Scoliosis	79718	TBL1XR1	ORPHA:487825
HP:0002650	Scoliosis	55210	ATAD3A	ORPHA:496790
HP:0002650	Scoliosis	55210	ATAD3A	OMIM:617183
HP:0002650	Scoliosis	5605	MAP2K2	OMIM:615280
HP:0002650	Scoliosis	5605	MAP2K2	ORPHA:1340
HP:0002650	Scoliosis	715	C1R	OMIM:130080
HP:0002650	Scoliosis	6305	SBF1	OMIM:615284
HP:0002650	Scoliosis	8818	DPM2	OMIM:615042
HP:0002650	Scoliosis	8818	DPM2	ORPHA:329178
HP:0002650	Scoliosis	83479	DDX59	ORPHA:2919
HP:0002650	Scoliosis	83479	DDX59	OMIM:174300
HP:0002650	Scoliosis	51339	DACT1	OMIM:617466
HP:0002650	Scoliosis	1742	DLG4	OMIM:618793
HP:0002650	Scoliosis	4076	CAPRIN1	OMIM:620636
HP:0002650	Scoliosis	9772	TMEM94	OMIM:618316
HP:0002650	Scoliosis	79971	WLS	OMIM:619648
HP:0002650	Scoliosis	124583	CANT1	OMIM:251450
HP:0002650	Scoliosis	124583	CANT1	ORPHA:1425
HP:0002650	Scoliosis	63895	PIEZO2	ORPHA:376
HP:0002650	Scoliosis	63895	PIEZO2	OMIM:108145
HP:0002650	Scoliosis	63895	PIEZO2	OMIM:114300
HP:0002650	Scoliosis	63895	PIEZO2	OMIM:617146
HP:0002650	Scoliosis	63895	PIEZO2	OMIM:248700
HP:0002650	Scoliosis	63895	PIEZO2	ORPHA:2461
HP:0002650	Scoliosis	8643	PTCH2	ORPHA:377
HP:0002650	Scoliosis	51684	SUFU	ORPHA:377
HP:0002650	Scoliosis	51684	SUFU	ORPHA:280200
HP:0002650	Scoliosis	51684	SUFU	ORPHA:475
HP:0002650	Scoliosis	23299	BICD2	OMIM:615290
HP:0002650	Scoliosis	23299	BICD2	OMIM:618291
HP:0002650	Scoliosis	2239	GPC4	ORPHA:373
HP:0002650	Scoliosis	2239	GPC4	OMIM:312870
HP:0002650	Scoliosis	2719	GPC3	ORPHA:373
HP:0002650	Scoliosis	2719	GPC3	OMIM:312870
HP:0002650	Scoliosis	5354	PLP1	OMIM:312080
HP:0002650	Scoliosis	6843	VAMP1	OMIM:618323
HP:0002650	Scoliosis	23483	TGDS	OMIM:616145
HP:0002650	Scoliosis	23483	TGDS	ORPHA:1388
HP:0002650	Scoliosis	2395	FXN	OMIM:229300
HP:0002650	Scoliosis	2395	FXN	ORPHA:95
HP:0002650	Scoliosis	57679	ALS2	OMIM:205100
HP:0002650	Scoliosis	57679	ALS2	OMIM:607225
HP:0002650	Scoliosis	57679	ALS2	ORPHA:300605
HP:0002650	Scoliosis	84168	ANTXR1	OMIM:230740
HP:0002650	Scoliosis	2720	GLB1	OMIM:230500
HP:0002650	Scoliosis	2720	GLB1	OMIM:230600
HP:0002650	Scoliosis	2720	GLB1	OMIM:230650
HP:0002650	Scoliosis	2720	GLB1	OMIM:253010
HP:0002650	Scoliosis	4087	SMAD2	OMIM:619656
HP:0002650	Scoliosis	4087	SMAD2	ORPHA:60030
HP:0002650	Scoliosis	4087	SMAD2	ORPHA:91387
HP:0002650	Scoliosis	6885	MAP3K7	ORPHA:1826
HP:0002650	Scoliosis	6885	MAP3K7	OMIM:157800
HP:0002650	Scoliosis	6885	MAP3K7	OMIM:617137
HP:0002650	Scoliosis	257	ALX3	ORPHA:391474
HP:0002650	Scoliosis	25970	SH2B1	ORPHA:261197
HP:0002650	Scoliosis	1387	CREBBP	OMIM:618332
HP:0002650	Scoliosis	1387	CREBBP	OMIM:180849
HP:0002650	Scoliosis	1387	CREBBP	ORPHA:592574
HP:0002650	Scoliosis	26160	IFT172	OMIM:616394
HP:0002650	Scoliosis	58497	PRUNE1	OMIM:617481
HP:0002650	Scoliosis	58497	PRUNE1	ORPHA:544469
HP:0002650	Scoliosis	5881	RAC3	OMIM:618577
HP:0002650	Scoliosis	26173	INTS1	OMIM:618571
HP:0002650	Scoliosis	9427	ECEL1	OMIM:615065
HP:0002650	Scoliosis	3508	IGHMBP2	OMIM:616155
HP:0002650	Scoliosis	5888	RAD51	OMIM:617244
HP:0002650	Scoliosis	5888	RAD51	ORPHA:84
HP:0002650	Scoliosis	55151	TMEM38B	OMIM:615066
HP:0002650	Scoliosis	171546	SPTSSA	OMIM:620416
HP:0002650	Scoliosis	4212	MEIS2	ORPHA:261190
HP:0002650	Scoliosis	2583	B4GALNT1	OMIM:609195
HP:0002650	Scoliosis	2583	B4GALNT1	ORPHA:101006
HP:0002650	Scoliosis	7227	TRPS1	OMIM:190350
HP:0002650	Scoliosis	7227	TRPS1	OMIM:190351
HP:0002650	Scoliosis	7227	TRPS1	ORPHA:77258
HP:0002650	Scoliosis	7046	TGFBR1	OMIM:609192
HP:0002650	Scoliosis	7046	TGFBR1	ORPHA:60030
HP:0002650	Scoliosis	7046	TGFBR1	ORPHA:91387
HP:0002650	Scoliosis	5426	POLE	OMIM:618336
HP:0002650	Scoliosis	5081	PAX7	OMIM:618578
HP:0002650	Scoliosis	7873	MANF	OMIM:620651
HP:0002650	Scoliosis	389827	MYMK	OMIM:254940
HP:0002650	Scoliosis	389827	MYMK	ORPHA:1358
HP:0002650	Scoliosis	7273	TTN	OMIM:611705
HP:0002650	Scoliosis	7273	TTN	ORPHA:324604
HP:0002650	Scoliosis	2617	GARS1	OMIM:601472
HP:0002650	Scoliosis	2617	GARS1	OMIM:619042
HP:0002650	Scoliosis	2201	FBN2	ORPHA:115
HP:0002650	Scoliosis	2201	FBN2	OMIM:121050
HP:0002650	Scoliosis	7291	TWIST1	ORPHA:794
HP:0002650	Scoliosis	2263	FGFR2	ORPHA:794
HP:0002650	Scoliosis	2263	FGFR2	ORPHA:2363
HP:0002650	Scoliosis	2261	FGFR3	ORPHA:794
HP:0002650	Scoliosis	2261	FGFR3	ORPHA:2363
HP:0002650	Scoliosis	2261	FGFR3	ORPHA:429
HP:0002650	Scoliosis	2261	FGFR3	ORPHA:85164
HP:0002650	Scoliosis	2261	FGFR3	OMIM:610474
HP:0002650	Scoliosis	4088	SMAD3	ORPHA:284984
HP:0002650	Scoliosis	4088	SMAD3	OMIM:613795
HP:0002650	Scoliosis	4088	SMAD3	ORPHA:60030
HP:0002650	Scoliosis	4088	SMAD3	ORPHA:91387
HP:0002650	Scoliosis	9361	LONP1	OMIM:600373
HP:0002650	Scoliosis	9361	LONP1	ORPHA:1458
HP:0002650	Scoliosis	4921	DDR2	OMIM:271665
HP:0002650	Scoliosis	57190	SELENON	ORPHA:324604
HP:0002650	Scoliosis	57190	SELENON	ORPHA:97244
HP:0002650	Scoliosis	57190	SELENON	OMIM:602771
HP:0002650	Scoliosis	57190	SELENON	ORPHA:2020
HP:0002650	Scoliosis	51574	LARP7	OMIM:615071
HP:0002650	Scoliosis	51574	LARP7	ORPHA:319671
HP:0002650	Scoliosis	65992	DDRGK1	OMIM:602557
HP:0002650	Scoliosis	65992	DDRGK1	ORPHA:93352
HP:0002650	Scoliosis	10059	DNM1L	ORPHA:330050
HP:0002650	Scoliosis	6448	SGSH	OMIM:252900
HP:0002650	Scoliosis	6134	RPL10	OMIM:300998
HP:0002650	Scoliosis	6134	RPL10	ORPHA:459070
HP:0002650	Scoliosis	8925	HERC1	OMIM:617011
HP:0002650	Scoliosis	1499	CTNNB1	OMIM:615075
HP:0002650	Scoliosis	1291	COL6A1	OMIM:254090
HP:0002650	Scoliosis	1291	COL6A1	OMIM:158810
HP:0002650	Scoliosis	1291	COL6A1	ORPHA:75840
HP:0002650	Scoliosis	1291	COL6A1	ORPHA:610
HP:0002650	Scoliosis	56896	DPYSL5	OMIM:619435
HP:0002650	Scoliosis	56896	DPYSL5	ORPHA:7
HP:0002650	Scoliosis	23516	SLC39A14	OMIM:617013
HP:0002650	Scoliosis	23516	SLC39A14	ORPHA:521406
HP:0002650	Scoliosis	8573	CASK	OMIM:300749
HP:0002650	Scoliosis	8573	CASK	ORPHA:163937
HP:0002650	Scoliosis	8573	CASK	OMIM:300422
HP:0002650	Scoliosis	79912	PYROXD1	OMIM:617258
HP:0002650	Scoliosis	90459	ERI1	OMIM:620663
HP:0002650	Scoliosis	90459	ERI1	OMIM:620662
HP:0002650	Scoliosis	5428	POLG	OMIM:258450
HP:0002650	Scoliosis	5428	POLG	OMIM:203700
HP:0002650	Scoliosis	4703	NEB	OMIM:256030
HP:0002650	Scoliosis	4703	NEB	ORPHA:171436
HP:0002650	Scoliosis	4703	NEB	ORPHA:171439
HP:0002650	Scoliosis	100033413	SNORD116-1	OMIM:176270
HP:0002650	Scoliosis	8924	HERC2	OMIM:176270
HP:0002650	Scoliosis	23742	NPAP1	OMIM:176270
HP:0002650	Scoliosis	338433	SNORD115-1	OMIM:176270
HP:0002650	Scoliosis	54551	MAGEL2	OMIM:176270
HP:0002650	Scoliosis	54551	MAGEL2	ORPHA:398069
HP:0002650	Scoliosis	54551	MAGEL2	ORPHA:994
HP:0002650	Scoliosis	54551	MAGEL2	ORPHA:98754
HP:0002650	Scoliosis	54551	MAGEL2	ORPHA:177904
HP:0002650	Scoliosis	54551	MAGEL2	ORPHA:177901
HP:0002650	Scoliosis	54551	MAGEL2	OMIM:615547
HP:0002650	Scoliosis	7681	MKRN3	OMIM:176270
HP:0002650	Scoliosis	145624	PWAR1	OMIM:176270
HP:0002650	Scoliosis	3653	IPW	OMIM:176270
HP:0002650	Scoliosis	791114	PWRN1	OMIM:176270
HP:0002650	Scoliosis	6442	SGCA	OMIM:608099
HP:0002650	Scoliosis	128869	PIGU	OMIM:618590
HP:0002650	Scoliosis	4054	LTBP3	OMIM:601216
HP:0002650	Scoliosis	2972	BRF1	ORPHA:444072
HP:0002650	Scoliosis	2972	BRF1	OMIM:616202
HP:0002650	Scoliosis	6567	SLC16A2	OMIM:300523
HP:0002650	Scoliosis	6492	SIM1	ORPHA:398079
HP:0002650	Scoliosis	112939	NACC1	ORPHA:500545
HP:0002650	Scoliosis	112939	NACC1	OMIM:617393
HP:0002650	Scoliosis	4041	LRP5	OMIM:259770
HP:0002650	Scoliosis	25885	POLR1A	OMIM:620675
HP:0002650	Scoliosis	25885	POLR1A	OMIM:616462
HP:0002650	Scoliosis	51114	ZDHHC9	ORPHA:776
HP:0002650	Scoliosis	65109	UPF3B	ORPHA:776
HP:0002650	Scoliosis	65109	UPF3B	OMIM:300676
HP:0002650	Scoliosis	9968	MED12	ORPHA:776
HP:0002650	Scoliosis	9968	MED12	OMIM:300895
HP:0002650	Scoliosis	4952	OCRL	ORPHA:534
HP:0002650	Scoliosis	4952	OCRL	OMIM:309000
HP:0002650	Scoliosis	4204	MECP2	ORPHA:778
HP:0002650	Scoliosis	4204	MECP2	OMIM:312750
HP:0002650	Scoliosis	4204	MECP2	ORPHA:3095
HP:0002650	Scoliosis	4204	MECP2	OMIM:300055
HP:0002650	Scoliosis	427	ASAH1	OMIM:159950
HP:0002650	Scoliosis	427	ASAH1	ORPHA:2590
HP:0002650	Scoliosis	29925	GMPPB	ORPHA:370968
HP:0002650	Scoliosis	29925	GMPPB	ORPHA:353327
HP:0002650	Scoliosis	29954	POMT2	ORPHA:370968
HP:0002650	Scoliosis	29954	POMT2	OMIM:613150
HP:0002650	Scoliosis	29954	POMT2	OMIM:613156
HP:0002650	Scoliosis	9215	LARGE1	ORPHA:370968
HP:0002650	Scoliosis	10585	POMT1	ORPHA:370968
HP:0002650	Scoliosis	10585	POMT1	ORPHA:86812
HP:0002650	Scoliosis	7337	UBE3A	ORPHA:98794
HP:0002650	Scoliosis	7337	UBE3A	OMIM:105830
HP:0002650	Scoliosis	4948	OCA2	ORPHA:98794
HP:0002650	Scoliosis	4948	OCA2	ORPHA:98754
HP:0002650	Scoliosis	4948	OCA2	ORPHA:177904
HP:0002650	Scoliosis	4948	OCA2	ORPHA:177901
HP:0002650	Scoliosis	55777	MBD5	OMIM:156200
HP:0002650	Scoliosis	23005	MAPKBP1	OMIM:617271
HP:0002650	Scoliosis	4784	NFIX	OMIM:602535
HP:0002650	Scoliosis	4784	NFIX	ORPHA:561
HP:0002650	Scoliosis	4784	NFIX	OMIM:614753
HP:0002650	Scoliosis	4784	NFIX	ORPHA:420179
HP:0002650	Scoliosis	7084	TK2	ORPHA:254875
HP:0002650	Scoliosis	84340	GFM2	ORPHA:565624
HP:0002650	Scoliosis	84340	GFM2	OMIM:618397
HP:0002650	Scoliosis	8888	MCM3AP	OMIM:618124
HP:0002650	Scoliosis	153642	ARSK	OMIM:619698
HP:0002650	Scoliosis	3549	IHH	ORPHA:63446
HP:0002650	Scoliosis	3549	IHH	ORPHA:93388
HP:0002650	Scoliosis	3549	IHH	OMIM:607778
HP:0002650	Scoliosis	6601	SMARCC2	OMIM:618362
HP:0002650	Scoliosis	6601	SMARCC2	ORPHA:1465
HP:0002650	Scoliosis	4052	LTBP1	OMIM:619451
HP:0002650	Scoliosis	84068	SLC10A7	OMIM:618363
HP:0002650	Scoliosis	3756	KCNH1	OMIM:135500
HP:0002650	Scoliosis	1280	COL2A1	OMIM:609162
HP:0002650	Scoliosis	1280	COL2A1	ORPHA:85198
HP:0002650	Scoliosis	1280	COL2A1	ORPHA:94068
HP:0002650	Scoliosis	1280	COL2A1	OMIM:183900
HP:0002650	Scoliosis	1280	COL2A1	OMIM:184255
HP:0002650	Scoliosis	1280	COL2A1	OMIM:184250
HP:0002650	Scoliosis	1280	COL2A1	OMIM:108300
HP:0002650	Scoliosis	1280	COL2A1	ORPHA:93315
HP:0002650	Scoliosis	1280	COL2A1	ORPHA:93316
HP:0002650	Scoliosis	201163	FLCN	OMIM:610883
HP:0002650	Scoliosis	9675	TTI1	OMIM:620445
HP:0002650	Scoliosis	11145	PLAAT3	OMIM:620683
HP:0002650	Scoliosis	51608	GET4	OMIM:620200
HP:0002650	Scoliosis	1312	COMT	ORPHA:567
HP:0002650	Scoliosis	221037	JMJD1C	ORPHA:567
HP:0002650	Scoliosis	2812	GP1BB	ORPHA:567
HP:0002650	Scoliosis	6239	RREB1	ORPHA:567
HP:0002650	Scoliosis	6899	TBX1	ORPHA:567
HP:0002650	Scoliosis	6899	TBX1	ORPHA:1727
HP:0002650	Scoliosis	6899	TBX1	OMIM:188400
HP:0002650	Scoliosis	7290	HIRA	ORPHA:567
HP:0002650	Scoliosis	9632	SEC24C	ORPHA:567
HP:0002650	Scoliosis	7353	UFD1	ORPHA:567
HP:0002650	Scoliosis	421	ARVCF	ORPHA:567
HP:0002650	Scoliosis	7136	TNNI2	OMIM:601680
HP:0002650	Scoliosis	7136	TNNI2	ORPHA:1147
HP:0002650	Scoliosis	8260	NAA10	ORPHA:568
HP:0002650	Scoliosis	8260	NAA10	OMIM:309800
HP:0002650	Scoliosis	8260	NAA10	OMIM:300855
HP:0002650	Scoliosis	8260	NAA10	ORPHA:276432
HP:0002650	Scoliosis	2778	GNAS	ORPHA:562
HP:0002650	Scoliosis	1277	COL1A1	OMIM:130060
HP:0002650	Scoliosis	1277	COL1A1	OMIM:166220
HP:0002650	Scoliosis	1277	COL1A1	ORPHA:1899
HP:0002650	Scoliosis	1277	COL1A1	ORPHA:287
HP:0002650	Scoliosis	1277	COL1A1	OMIM:259420
HP:0002650	Scoliosis	1277	COL1A1	OMIM:619115
HP:0002650	Scoliosis	1277	COL1A1	ORPHA:1310
HP:0002650	Scoliosis	1760	DMPK	ORPHA:589821
HP:0002650	Scoliosis	11342	RNF13	OMIM:618379
HP:0002650	Scoliosis	11342	RNF13	ORPHA:544503
HP:0002650	Scoliosis	7317	UBA1	OMIM:301830
HP:0002650	Scoliosis	127833	SYT2	OMIM:619461
HP:0002650	Scoliosis	80821	DDHD1	ORPHA:101008
HP:0002650	Scoliosis	80821	DDHD1	OMIM:609340
HP:0002650	Scoliosis	3188	HNRNPH2	OMIM:300986
HP:0002650	Scoliosis	6304	SATB1	OMIM:619229
HP:0002650	Scoliosis	1278	COL1A2	OMIM:166220
HP:0002650	Scoliosis	1278	COL1A2	OMIM:617821
HP:0002650	Scoliosis	1278	COL1A2	ORPHA:1899
HP:0002650	Scoliosis	1278	COL1A2	OMIM:259420
HP:0002650	Scoliosis	64374	SIL1	ORPHA:559
HP:0002650	Scoliosis	64374	SIL1	OMIM:248800
HP:0002650	Scoliosis	4763	NF1	ORPHA:97685
HP:0002650	Scoliosis	4763	NF1	ORPHA:363700
HP:0002650	Scoliosis	4763	NF1	OMIM:601321
HP:0002650	Scoliosis	4763	NF1	OMIM:162200
HP:0002650	Scoliosis	26040	SETBP1	ORPHA:798
HP:0002650	Scoliosis	6874	TAF4	OMIM:620450
HP:0002650	Scoliosis	55605	KIF21A	ORPHA:994
HP:0002650	Scoliosis	4927	NUP88	ORPHA:994
HP:0002650	Scoliosis	7846	TUBA1A	ORPHA:994
HP:0002650	Scoliosis	4654	MYOD1	ORPHA:994
HP:0002650	Scoliosis	5913	RAPSN	ORPHA:994
HP:0002650	Scoliosis	5913	RAPSN	ORPHA:98913
HP:0002650	Scoliosis	6572	SLC18A3	ORPHA:994
HP:0002650	Scoliosis	285489	DOK7	ORPHA:994
HP:0002650	Scoliosis	285489	DOK7	ORPHA:98913
HP:0002650	Scoliosis	9321	TRIP11	ORPHA:166272
HP:0002650	Scoliosis	9321	TRIP11	OMIM:184260
HP:0002650	Scoliosis	55975	KLHL7	OMIM:617055
HP:0002650	Scoliosis	2290	FOXG1	ORPHA:261144
HP:0002650	Scoliosis	2290	FOXG1	OMIM:613454
HP:0002650	Scoliosis	54809	SAMD9	OMIM:617053
HP:0002650	Scoliosis	10526	IPO8	OMIM:619472
HP:0002650	Scoliosis	10526	IPO8	ORPHA:60030
HP:0002650	Scoliosis	2892	GRIA3	ORPHA:364028
HP:0002650	Scoliosis	64840	PORCN	ORPHA:2092
HP:0002650	Scoliosis	64840	PORCN	OMIM:305600
HP:0002650	Scoliosis	94005	PIGS	OMIM:618143
HP:0002650	Scoliosis	6711	SPTBN1	OMIM:619475
HP:0002650	Scoliosis	2218	FKTN	OMIM:253800
HP:0002650	Scoliosis	80036	TRPM3	OMIM:620224
HP:0002650	Scoliosis	92935	MARS2	ORPHA:314603
HP:0002650	Scoliosis	92935	MARS2	OMIM:611390
HP:0002650	Scoliosis	5781	PTPN11	ORPHA:500
HP:0002650	Scoliosis	5781	PTPN11	ORPHA:648
HP:0002650	Scoliosis	673	BRAF	ORPHA:500
HP:0002650	Scoliosis	673	BRAF	OMIM:613706
HP:0002650	Scoliosis	673	BRAF	OMIM:115150
HP:0002650	Scoliosis	673	BRAF	ORPHA:1340
HP:0002650	Scoliosis	5894	RAF1	ORPHA:500
HP:0002650	Scoliosis	5894	RAF1	ORPHA:648
HP:0002650	Scoliosis	2317	FLNB	ORPHA:503
HP:0002650	Scoliosis	2317	FLNB	OMIM:272460
HP:0002650	Scoliosis	2317	FLNB	ORPHA:1190
HP:0002650	Scoliosis	2317	FLNB	OMIM:108721
HP:0002650	Scoliosis	2317	FLNB	OMIM:150250
HP:0002650	Scoliosis	207	AKT1	ORPHA:744
HP:0002650	Scoliosis	207	AKT1	ORPHA:201
HP:0002650	Scoliosis	207	AKT1	OMIM:615109
HP:0002650	Scoliosis	388015	RTL1	ORPHA:96184
HP:0002650	Scoliosis	388015	RTL1	ORPHA:96334
HP:0002650	Scoliosis	388015	RTL1	ORPHA:254531
HP:0002650	Scoliosis	8788	DLK1	ORPHA:96184
HP:0002650	Scoliosis	8788	DLK1	ORPHA:96334
HP:0002650	Scoliosis	8788	DLK1	ORPHA:254531
HP:0002650	Scoliosis	55384	MEG3	ORPHA:96184
HP:0002650	Scoliosis	55384	MEG3	ORPHA:96334
HP:0002650	Scoliosis	55384	MEG3	ORPHA:254531
HP:0002650	Scoliosis	11198	SUPT16H	OMIM:619480
HP:0002650	Scoliosis	9829	DNAJC6	ORPHA:391411
HP:0002650	Scoliosis	5420	PODXL	ORPHA:391411
HP:0002650	Scoliosis	8867	SYNJ1	ORPHA:391411
HP:0002650	Scoliosis	2887	GRB10	ORPHA:96182
HP:0002650	Scoliosis	283446	MYO1H	OMIM:619482
HP:0002650	Scoliosis	51360	MBTPS2	OMIM:308205
HP:0002650	Scoliosis	51360	MBTPS2	ORPHA:85284
HP:0002650	Scoliosis	51360	MBTPS2	OMIM:301014
HP:0002650	Scoliosis	1457	CSNK2A1	OMIM:617062
HP:0002650	Scoliosis	7204	TRIO	OMIM:617061
HP:0002650	Scoliosis	7204	TRIO	OMIM:618825
HP:0002650	Scoliosis	7204	TRIO	ORPHA:476126
HP:0002650	Scoliosis	3636	INPPL1	OMIM:258480
HP:0002650	Scoliosis	9325	TRIP4	OMIM:617066
HP:0002650	Scoliosis	9325	TRIP4	ORPHA:486815
HP:0002650	Scoliosis	100147744	RNU7-1	OMIM:619487
HP:0002650	Scoliosis	100147744	RNU7-1	ORPHA:51
HP:0002650	Scoliosis	6872	TAF1	OMIM:300966
HP:0002650	Scoliosis	8567	MADD	OMIM:619004
HP:0002650	Scoliosis	8567	MADD	OMIM:619005
HP:0002650	Scoliosis	4841	NONO	OMIM:300967
HP:0002650	Scoliosis	8239	USP9X	OMIM:300968
HP:0002650	Scoliosis	8239	USP9X	ORPHA:480880
HP:0002650	Scoliosis	8318	CDC45	OMIM:617063
HP:0002650	Scoliosis	23233	EXOC6B	OMIM:618395
HP:0002650	Scoliosis	28952	CCDC22	OMIM:300963
HP:0002650	Scoliosis	28952	CCDC22	ORPHA:7
HP:0002650	Scoliosis	4617	MYF5	OMIM:618155
HP:0002650	Scoliosis	2273	FHL1	OMIM:300718
HP:0002650	Scoliosis	2273	FHL1	OMIM:300717
HP:0002650	Scoliosis	2273	FHL1	OMIM:300696
HP:0002650	Scoliosis	2273	FHL1	ORPHA:98863
HP:0002650	Scoliosis	2273	FHL1	OMIM:300280
HP:0002650	Scoliosis	1654	DDX3X	OMIM:300958
HP:0002650	Scoliosis	1654	DDX3X	ORPHA:457260
HP:0002650	Scoliosis	8450	CUL4B	ORPHA:85293
HP:0002650	Scoliosis	93587	TRMT10A	ORPHA:391408
HP:0002650	Scoliosis	93587	TRMT10A	OMIM:616033
HP:0002650	Scoliosis	84919	PPP1R15B	ORPHA:391408
HP:0002650	Scoliosis	26278	SACS	OMIM:270550
HP:0002650	Scoliosis	7169	TPM2	OMIM:108120
HP:0002650	Scoliosis	7169	TPM2	OMIM:609285
HP:0002650	Scoliosis	7169	TPM2	ORPHA:171436
HP:0002650	Scoliosis	7169	TPM2	ORPHA:2020
HP:0002650	Scoliosis	7169	TPM2	ORPHA:1147
HP:0002650	Scoliosis	7169	TPM2	ORPHA:171439
HP:0002650	Scoliosis	6748	SSR4	ORPHA:370927
HP:0002650	Scoliosis	6748	SSR4	OMIM:300934
HP:0002650	Scoliosis	1836	SLC26A2	OMIM:256050
HP:0002650	Scoliosis	1836	SLC26A2	OMIM:222600
HP:0002650	Scoliosis	1836	SLC26A2	ORPHA:628
HP:0002650	Scoliosis	1836	SLC26A2	OMIM:226900
HP:0002650	Scoliosis	1836	SLC26A2	ORPHA:93307
HP:0002650	Scoliosis	10084	PQBP1	OMIM:309500
HP:0002650	Scoliosis	50515	CHST11	OMIM:618167
HP:0002650	Scoliosis	60	ACTB	OMIM:604919
HP:0002650	Scoliosis	60	ACTB	ORPHA:64755
HP:0002650	Scoliosis	60	ACTB	ORPHA:79107
HP:0002650	Scoliosis	60	ACTB	ORPHA:2995
HP:0002650	Scoliosis	2629	GBA1	ORPHA:2072
HP:0002650	Scoliosis	10479	SLC9A6	ORPHA:85278
HP:0002650	Scoliosis	84231	TRAF7	OMIM:618164
HP:0002650	Scoliosis	2193	FARSA	OMIM:619013
HP:0002650	Scoliosis	10491	CRTAP	OMIM:610682
HP:0002650	Scoliosis	10491	CRTAP	ORPHA:2050
HP:0002650	Scoliosis	23133	PHF8	ORPHA:85287
HP:0002650	Scoliosis	284058	KANSL1	OMIM:610443
HP:0002650	Scoliosis	284058	KANSL1	ORPHA:363958
HP:0002650	Scoliosis	284058	KANSL1	ORPHA:363965
HP:0002650	Scoliosis	92344	GORAB	ORPHA:2078
HP:0002650	Scoliosis	5831	PYCR1	ORPHA:2078
HP:0002650	Scoliosis	5831	PYCR1	OMIM:612940
HP:0002650	Scoliosis	779	CACNA1S	OMIM:620246
HP:0002650	Scoliosis	203859	ANO5	ORPHA:53697
HP:0002650	Scoliosis	9897	WASHC5	ORPHA:7
HP:0002650	Scoliosis	57020	VPS35L	ORPHA:7
HP:0002650	Scoliosis	64802	NMNAT1	OMIM:619260
HP:0002650	Scoliosis	116150	NUS1	OMIM:617082
HP:0002650	Scoliosis	84842	HPDL	OMIM:619026
HP:0002650	Scoliosis	9927	MFN2	OMIM:617087
HP:0002650	Scoliosis	9927	MFN2	OMIM:601152
HP:0002650	Scoliosis	9927	MFN2	OMIM:609260
HP:0002650	Scoliosis	9927	MFN2	ORPHA:99947
HP:0002650	Scoliosis	375056	MIA3	OMIM:619269
HP:0002650	Scoliosis	7042	TGFB2	OMIM:614816
HP:0002650	Scoliosis	7042	TGFB2	ORPHA:60030
HP:0002650	Scoliosis	7042	TGFB2	ORPHA:91387
HP:0002650	Scoliosis	283450	HECTD4	OMIM:620250
HP:0002650	Scoliosis	8085	KMT2D	OMIM:147920
HP:0002650	Scoliosis	8085	KMT2D	ORPHA:2322
HP:0002650	Scoliosis	7403	KDM6A	OMIM:147920
HP:0002650	Scoliosis	7403	KDM6A	ORPHA:2322
HP:0002650	Scoliosis	23443	SLC35A3	ORPHA:370943
HP:0002650	Scoliosis	23443	SLC35A3	OMIM:615553
HP:0002650	Scoliosis	6399	TRAPPC2	ORPHA:93284
HP:0002650	Scoliosis	6399	TRAPPC2	OMIM:313400
HP:0002650	Scoliosis	2643	GCH1	OMIM:128230
HP:0002650	Scoliosis	2643	GCH1	ORPHA:98808
HP:0002650	Scoliosis	1183	CLCN4	OMIM:300114
HP:0002650	Scoliosis	1183	CLCN4	ORPHA:485350
HP:0002650	Scoliosis	80308	FLAD1	OMIM:255100
HP:0002650	Scoliosis	50484	RRM2B	ORPHA:329336
HP:0002650	Scoliosis	246243	RNASEH1	ORPHA:329336
HP:0002650	Scoliosis	652	BMP4	ORPHA:828
HP:0002650	Scoliosis	7355	SLC35A2	ORPHA:356961
HP:0002650	Scoliosis	7138	TNNT1	OMIM:620389
HP:0002650	Scoliosis	7138	TNNT1	OMIM:620386
HP:0002650	Scoliosis	81839	VANGL1	ORPHA:3027
HP:0002650	Scoliosis	80199	FUZ	ORPHA:3027
HP:0002650	Scoliosis	79581	SLC52A2	OMIM:614707
HP:0002650	Scoliosis	64324	NSD1	ORPHA:821
HP:0002650	Scoliosis	64324	NSD1	OMIM:117550
HP:0002650	Scoliosis	64324	NSD1	ORPHA:3447
HP:0002650	Scoliosis	10297	APC2	ORPHA:821
HP:0002650	Scoliosis	1303	COL12A1	ORPHA:75840
HP:0002650	Scoliosis	1303	COL12A1	ORPHA:536516
HP:0002650	Scoliosis	1303	COL12A1	OMIM:616471
HP:0002650	Scoliosis	1303	COL12A1	ORPHA:610
HP:0002650	Scoliosis	1292	COL6A2	ORPHA:75840
HP:0002650	Scoliosis	1292	COL6A2	OMIM:620727
HP:0002650	Scoliosis	1292	COL6A2	ORPHA:610
HP:0002650	Scoliosis	1293	COL6A3	ORPHA:75840
HP:0002650	Scoliosis	1293	COL6A3	ORPHA:610
HP:0002650	Scoliosis	10093	ARPC4	OMIM:620141
HP:0002650	Scoliosis	5447	POR	ORPHA:95699
HP:0002650	Scoliosis	5447	POR	OMIM:201750
HP:0002650	Scoliosis	51506	UFC1	OMIM:618076
HP:0002650	Scoliosis	4552	MTRR	ORPHA:2169
HP:0002650	Scoliosis	224	ALDH3A2	ORPHA:816
HP:0002650	Scoliosis	2314	FLII	ORPHA:819
HP:0002650	Scoliosis	23096	IQSEC2	ORPHA:819
HP:0002650	Scoliosis	10743	RAI1	ORPHA:819
HP:0002650	Scoliosis	10743	RAI1	ORPHA:1713
HP:0002650	Scoliosis	10743	RAI1	OMIM:182290
HP:0002650	Scoliosis	10522	DEAF1	ORPHA:819
HP:0002650	Scoliosis	1717	DHCR7	ORPHA:818
HP:0002650	Scoliosis	4758	NEU1	ORPHA:812
HP:0002650	Scoliosis	55780	ERMARD	ORPHA:75857
HP:0002650	Scoliosis	55780	ERMARD	ORPHA:98892
HP:0002650	Scoliosis	10225	CD96	OMIM:211750
HP:0002650	Scoliosis	4038	LRP4	ORPHA:3258
HP:0002650	Scoliosis	4038	LRP4	ORPHA:98913
HP:0002650	Scoliosis	4038	LRP4	OMIM:212780
HP:0002650	Scoliosis	324	APC	ORPHA:3258
HP:0002650	Scoliosis	25778	DSTYK	OMIM:270750
HP:0002650	Scoliosis	6197	RPS6KA3	OMIM:303600
HP:0002650	Scoliosis	6197	RPS6KA3	ORPHA:192
HP:0002650	Scoliosis	6197	RPS6KA3	OMIM:300844
HP:0002650	Scoliosis	6197	RPS6KA3	ORPHA:276630
HP:0002650	Scoliosis	84992	PIGY	ORPHA:247262
HP:0002650	Scoliosis	84720	PIGO	ORPHA:247262
HP:0002650	Scoliosis	93210	PGAP3	ORPHA:247262
HP:0002650	Scoliosis	284098	PIGW	ORPHA:247262
HP:0002650	Scoliosis	27315	PGAP2	ORPHA:247262
HP:0002650	Scoliosis	27315	PGAP2	OMIM:614207
HP:0002650	Scoliosis	55650	PIGV	ORPHA:247262
HP:0002650	Scoliosis	9487	PIGL	ORPHA:247262
HP:0002650	Scoliosis	4001	LMNB1	OMIM:619179
HP:0002650	Scoliosis	5119	CHMP1A	OMIM:614961
HP:0002650	Scoliosis	50814	NSDHL	OMIM:308050
HP:0002650	Scoliosis	50814	NSDHL	OMIM:300831
HP:0002650	Scoliosis	23522	KAT6B	OMIM:606170
HP:0002650	Scoliosis	6261	RYR1	OMIM:255320
HP:0002650	Scoliosis	6261	RYR1	ORPHA:98905
HP:0002650	Scoliosis	6261	RYR1	OMIM:619542
HP:0002650	Scoliosis	6261	RYR1	ORPHA:424107
HP:0002650	Scoliosis	6261	RYR1	OMIM:117000
HP:0002650	Scoliosis	93627	TBCK	OMIM:616900
HP:0002650	Scoliosis	93627	TBCK	ORPHA:488632
HP:0002650	Scoliosis	5238	PGM3	OMIM:615816
HP:0002650	Scoliosis	672	BRCA1	ORPHA:84
HP:0002650	Scoliosis	10459	MAD2L2	ORPHA:84
HP:0002650	Scoliosis	7516	XRCC2	ORPHA:84
HP:0002650	Scoliosis	29089	UBE2T	ORPHA:84
HP:0002650	Scoliosis	675	BRCA2	ORPHA:84
HP:0002650	Scoliosis	55120	FANCL	ORPHA:84
HP:0002650	Scoliosis	2177	FANCD2	ORPHA:84
HP:0002650	Scoliosis	2175	FANCA	ORPHA:84
HP:0002650	Scoliosis	2187	FANCB	ORPHA:84
HP:0002650	Scoliosis	2176	FANCC	ORPHA:84
HP:0002650	Scoliosis	2178	FANCE	ORPHA:84
HP:0002650	Scoliosis	2188	FANCF	ORPHA:84
HP:0002650	Scoliosis	2189	FANCG	ORPHA:84
HP:0002650	Scoliosis	5889	RAD51C	ORPHA:84
HP:0002650	Scoliosis	55159	RFWD3	ORPHA:84
HP:0002650	Scoliosis	83990	BRIP1	ORPHA:84
HP:0002650	Scoliosis	57697	FANCM	ORPHA:84
HP:0002650	Scoliosis	79728	PALB2	ORPHA:84
HP:0002650	Scoliosis	84464	SLX4	ORPHA:84
HP:0002650	Scoliosis	2072	ERCC4	ORPHA:84
HP:0002650	Scoliosis	2072	ERCC4	ORPHA:90321
HP:0002650	Scoliosis	2072	ERCC4	OMIM:610965
HP:0002650	Scoliosis	2072	ERCC4	OMIM:278760
HP:0002650	Scoliosis	55215	FANCI	ORPHA:84
HP:0002650	Scoliosis	823	CAPN1	OMIM:616907
HP:0002650	Scoliosis	823	CAPN1	ORPHA:488594
HP:0002650	Scoliosis	222663	SCUBE3	OMIM:619184
HP:0002650	Scoliosis	7274	TTPA	ORPHA:96
HP:0002650	Scoliosis	57531	HACE1	ORPHA:464282
HP:0002650	Scoliosis	57531	HACE1	OMIM:616756
HP:0002650	Scoliosis	9839	ZEB2	ORPHA:261552
HP:0002650	Scoliosis	9839	ZEB2	ORPHA:261537
HP:0002650	Scoliosis	7170	TPM3	OMIM:255310
HP:0002650	Scoliosis	7170	TPM3	OMIM:609284
HP:0002650	Scoliosis	7170	TPM3	ORPHA:2020
HP:0002650	Scoliosis	7170	TPM3	ORPHA:171439
HP:0002650	Scoliosis	1641	DCX	ORPHA:2148
HP:0002650	Scoliosis	23545	ATP6V0A2	OMIM:278250
HP:0002650	Scoliosis	23545	ATP6V0A2	OMIM:219200
HP:0002650	Scoliosis	11160	ERLIN2	OMIM:611225
HP:0002650	Scoliosis	11160	ERLIN2	OMIM:620512
HP:0002650	Scoliosis	25942	SIN3A	OMIM:613406
HP:0002650	Scoliosis	25942	SIN3A	ORPHA:94065
HP:0002650	Scoliosis	175	AGA	ORPHA:93
HP:0002650	Scoliosis	175	AGA	OMIM:208400
HP:0002650	Scoliosis	7468	NSD2	OMIM:194190
HP:0002650	Scoliosis	7468	NSD2	ORPHA:280
HP:0002650	Scoliosis	10815	CPLX1	OMIM:194190
HP:0002650	Scoliosis	10815	CPLX1	ORPHA:280
HP:0002650	Scoliosis	1487	CTBP1	OMIM:194190
HP:0002650	Scoliosis	1487	CTBP1	ORPHA:280
HP:0002650	Scoliosis	53834	FGFRL1	OMIM:194190
HP:0002650	Scoliosis	3954	LETM1	OMIM:194190
HP:0002650	Scoliosis	3954	LETM1	ORPHA:280
HP:0002650	Scoliosis	113278	SLC52A3	OMIM:211530
HP:0002650	Scoliosis	3425	IDUA	OMIM:607015
HP:0002650	Scoliosis	3425	IDUA	ORPHA:93473
HP:0002650	Scoliosis	54332	GDAP1	OMIM:608340
HP:0002650	Scoliosis	54332	GDAP1	ORPHA:99948
HP:0002650	Scoliosis	3192	HNRNPU	ORPHA:238769
HP:0002650	Scoliosis	9653	HS2ST1	OMIM:619194
HP:0002650	Scoliosis	1798	DPAGT1	ORPHA:86309
HP:0002650	Scoliosis	1798	DPAGT1	OMIM:614750
HP:0002650	Scoliosis	1798	DPAGT1	ORPHA:353327
HP:0002650	Scoliosis	6135	RPL11	OMIM:612562
HP:0002650	Scoliosis	91754	NEK9	ORPHA:64754
HP:0002650	Scoliosis	26053	AUTS2	OMIM:615834
HP:0002650	Scoliosis	26053	AUTS2	ORPHA:352490
HP:0002650	Scoliosis	10056	FARSB	OMIM:613658
HP:0002650	Scoliosis	23345	SYNE1	ORPHA:319332
HP:0002650	Scoliosis	23345	SYNE1	ORPHA:88644
HP:0002650	Scoliosis	23345	SYNE1	OMIM:610743
HP:0002650	Scoliosis	23345	SYNE1	OMIM:618484
HP:0002650	Scoliosis	23345	SYNE1	ORPHA:98853
HP:0002650	Scoliosis	54499	TMCO1	OMIM:213980
HP:0002650	Scoliosis	54499	TMCO1	ORPHA:1394
HP:0002650	Scoliosis	11128	POLR3A	OMIM:264090
HP:0002650	Scoliosis	4094	MAF	ORPHA:1272
HP:0002650	Scoliosis	368	ABCC6	OMIM:177850
HP:0002650	Scoliosis	23261	CAMTA1	OMIM:614756
HP:0002650	Scoliosis	2255	FGF10	ORPHA:2363
HP:0002650	Scoliosis	55906	ZC4H2	ORPHA:3454
HP:0002650	Scoliosis	55906	ZC4H2	OMIM:301041
HP:0002650	Scoliosis	55906	ZC4H2	OMIM:314580
HP:0002650	Scoliosis	6638	SNRPN	ORPHA:98754
HP:0002650	Scoliosis	6638	SNRPN	ORPHA:177904
HP:0002650	Scoliosis	6638	SNRPN	ORPHA:177901
HP:0002650	Scoliosis	6638	SNRPN	ORPHA:177907
HP:0002650	Scoliosis	6638	SNRPN	OMIM:105830
HP:0002650	Scoliosis	4692	NDN	ORPHA:98754
HP:0002650	Scoliosis	4692	NDN	ORPHA:177904
HP:0002650	Scoliosis	4692	NDN	ORPHA:177901
HP:0002650	Scoliosis	3481	IGF2	ORPHA:2128
HP:0002650	Scoliosis	10984	KCNQ1OT1	ORPHA:2128
HP:0002650	Scoliosis	283120	H19	ORPHA:2128
HP:0002650	Scoliosis	2535	FZD2	OMIM:164745
HP:0002650	Scoliosis	2535	FZD2	ORPHA:3107
HP:0002650	Scoliosis	3977	LIFR	ORPHA:3206
HP:0002650	Scoliosis	3977	LIFR	OMIM:601559
HP:0002650	Scoliosis	55325	UFSP2	ORPHA:2114
HP:0002650	Scoliosis	55275	VPS53	OMIM:615851
HP:0002650	Scoliosis	6611	SMS	OMIM:309583
HP:0002650	Scoliosis	2146	EZH2	OMIM:277590
HP:0002650	Scoliosis	2146	EZH2	ORPHA:3447
HP:0002650	Scoliosis	7048	TGFBR2	OMIM:610168
HP:0002650	Scoliosis	7048	TGFBR2	ORPHA:60030
HP:0002650	Scoliosis	7048	TGFBR2	ORPHA:91387
HP:0002650	Scoliosis	545	ATR	ORPHA:808
HP:0002650	Scoliosis	545	ATR	OMIM:210600
HP:0002650	Scoliosis	1062	CENPE	ORPHA:808
HP:0002650	Scoliosis	5116	PCNT	ORPHA:808
HP:0002650	Scoliosis	5116	PCNT	ORPHA:2637
HP:0002650	Scoliosis	5932	RBBP8	ORPHA:808
HP:0002650	Scoliosis	79902	NUP85	ORPHA:808
HP:0002650	Scoliosis	84126	ATRIP	ORPHA:808
HP:0002650	Scoliosis	10293	TRAIP	ORPHA:808
HP:0002650	Scoliosis	1763	DNA2	ORPHA:808
HP:0002650	Scoliosis	22995	CEP152	ORPHA:808
HP:0002650	Scoliosis	22995	CEP152	OMIM:613823
HP:0002650	Scoliosis	10733	PLK4	ORPHA:808
HP:0002650	Scoliosis	10733	PLK4	ORPHA:2518
HP:0002650	Scoliosis	5048	PAFAH1B1	ORPHA:95232
HP:0002650	Scoliosis	4882	NPR2	ORPHA:40
HP:0002650	Scoliosis	4882	NPR2	OMIM:615923
HP:0002650	Scoliosis	147372	CCBE1	OMIM:235510
HP:0002650	Scoliosis	80324	PUS1	ORPHA:2598
HP:0002650	Scoliosis	51067	YARS2	ORPHA:2598
HP:0002650	Scoliosis	23512	SUZ12	ORPHA:3447
HP:0002650	Scoliosis	3081	HGD	ORPHA:56
HP:0002650	Scoliosis	10682	EBP	OMIM:302960
HP:0002650	Scoliosis	1186	CLCN7	ORPHA:53
HP:0002650	Scoliosis	2033	EP300	OMIM:613684
HP:0002650	Scoliosis	2033	EP300	OMIM:180849
HP:0002650	Scoliosis	84667	HES7	OMIM:613686
HP:0002650	Scoliosis	84667	HES7	ORPHA:2311
HP:0002650	Scoliosis	9573	GDF3	ORPHA:2345
HP:0002650	Scoliosis	392255	GDF6	ORPHA:2345
HP:0002650	Scoliosis	392255	GDF6	OMIM:118100
HP:0002650	Scoliosis	4222	MEOX1	ORPHA:2345
HP:0002650	Scoliosis	4222	MEOX1	OMIM:214300
HP:0002650	Scoliosis	22907	DHX30	OMIM:617804
HP:0002650	Scoliosis	3679	ITGA7	OMIM:613204
HP:0002650	Scoliosis	3679	ITGA7	ORPHA:2020
HP:0002650	Scoliosis	57165	GJC2	OMIM:613206
HP:0002650	Scoliosis	3798	KIF5A	OMIM:604187
HP:0002650	Scoliosis	3798	KIF5A	ORPHA:100991
HP:0002650	Scoliosis	10535	RNASEH2A	ORPHA:51
HP:0002650	Scoliosis	84153	RNASEH2C	ORPHA:51
HP:0002650	Scoliosis	25939	SAMHD1	ORPHA:51
HP:0002650	Scoliosis	79621	RNASEH2B	ORPHA:51
HP:0002650	Scoliosis	103	ADAR	ORPHA:51
HP:0002650	Scoliosis	11277	TREX1	ORPHA:51
HP:0002650	Scoliosis	134353	LSM11	ORPHA:51
HP:0002650	Scoliosis	64135	IFIH1	ORPHA:51
HP:0002650	Scoliosis	64135	IFIH1	OMIM:182250
HP:0002650	Scoliosis	23592	LEMD3	OMIM:166700
HP:0002650	Scoliosis	23592	LEMD3	ORPHA:94063
HP:0002650	Scoliosis	10075	HUWE1	OMIM:309590
HP:0002650	Scoliosis	8518	ELP1	OMIM:223900
HP:0002650	Scoliosis	8518	ELP1	ORPHA:1764
HP:0002650	Scoliosis	5979	RET	OMIM:162300
HP:0002650	Scoliosis	2245	FGD1	OMIM:305400
HP:0002650	Scoliosis	8243	SMC1A	OMIM:301044
HP:0002650	Scoliosis	8243	SMC1A	ORPHA:220386
HP:0002650	Scoliosis	8243	SMC1A	ORPHA:3095
HP:0002650	Scoliosis	84627	ZNF469	OMIM:229200
HP:0002650	Scoliosis	84627	ZNF469	ORPHA:90354
HP:0002650	Scoliosis	23394	ADNP	OMIM:615873
HP:0002650	Scoliosis	29123	ANKRD11	ORPHA:2332
HP:0002650	Scoliosis	29123	ANKRD11	ORPHA:261250
HP:0002650	Scoliosis	1788	DNMT3A	OMIM:615879
HP:0002650	Scoliosis	89970	RSPRY1	OMIM:616723
HP:0002650	Scoliosis	546	ATRX	OMIM:301040
HP:0002650	Scoliosis	26115	TANC2	OMIM:618906
HP:0002650	Scoliosis	6473	SHOX	OMIM:127300
HP:0002650	Scoliosis	6473	SHOX	ORPHA:314795
HP:0002650	Scoliosis	4010	LMX1B	OMIM:161200
HP:0002650	Scoliosis	4010	LMX1B	ORPHA:2614
HP:0002650	Scoliosis	11235	PDCD10	ORPHA:221061
HP:0002650	Scoliosis	83605	CCM2	ORPHA:221061
HP:0002650	Scoliosis	889	KRIT1	ORPHA:221061
HP:0002650	Scoliosis	4854	NOTCH3	OMIM:130720
HP:0002650	Scoliosis	4854	NOTCH3	ORPHA:2789
HP:0002650	Scoliosis	6652	SORD	OMIM:618912
HP:0002650	Scoliosis	998	CDC42	OMIM:616737
HP:0002650	Scoliosis	998	CDC42	ORPHA:487796
HP:0002650	Scoliosis	23097	CDK19	OMIM:618916
HP:0002650	Scoliosis	2332	FMR1	ORPHA:449291
HP:0002650	Scoliosis	2332	FMR1	OMIM:300624
HP:0002650	Scoliosis	2332	FMR1	ORPHA:908
HP:0002650	Scoliosis	6774	STAT3	ORPHA:2314
HP:0002650	Scoliosis	6774	STAT3	OMIM:147060
HP:0002650	Scoliosis	6597	SMARCA4	ORPHA:1465
HP:0002650	Scoliosis	6597	SMARCA4	OMIM:614609
HP:0002650	Scoliosis	6659	SOX4	ORPHA:1465
HP:0002650	Scoliosis	8289	ARID1A	ORPHA:1465
HP:0002650	Scoliosis	5977	DPF2	ORPHA:1465
HP:0002650	Scoliosis	6602	SMARCD1	ORPHA:1465
HP:0002650	Scoliosis	57492	ARID1B	ORPHA:1465
HP:0002650	Scoliosis	57492	ARID1B	OMIM:135900
HP:0002650	Scoliosis	196528	ARID2	ORPHA:1465
HP:0002650	Scoliosis	6605	SMARCE1	ORPHA:1465
HP:0002650	Scoliosis	6664	SOX11	ORPHA:1465
HP:0002650	Scoliosis	4358	MPV17	OMIM:256810
HP:0002650	Scoliosis	10616	RBCK1	OMIM:615895
HP:0002650	Scoliosis	10683	DLL3	ORPHA:2311
HP:0002650	Scoliosis	3955	LFNG	ORPHA:2311
HP:0002650	Scoliosis	3955	LFNG	OMIM:609813
HP:0002650	Scoliosis	145873	MESP2	ORPHA:2311
HP:0002650	Scoliosis	91137	SLC25A46	OMIM:616505
HP:0002650	Scoliosis	9378	NRXN1	OMIM:614325
HP:0002650	Scoliosis	259232	NALCN	OMIM:615419
HP:0002650	Scoliosis	259232	NALCN	OMIM:616266
HP:0002650	Scoliosis	259232	NALCN	ORPHA:2053
HP:0002650	Scoliosis	259232	NALCN	ORPHA:562528
HP:0002650	Scoliosis	259232	NALCN	ORPHA:1147
HP:0002650	Scoliosis	259232	NALCN	ORPHA:371364
HP:0002650	Scoliosis	3759	KCNJ2	OMIM:170390
HP:0002650	Scoliosis	3759	KCNJ2	ORPHA:37553
HP:0002650	Scoliosis	157570	ESCO2	ORPHA:2319
HP:0002650	Scoliosis	79583	TMEM231	ORPHA:2318
HP:0002650	Scoliosis	51524	TMEM138	ORPHA:2318
HP:0002650	Scoliosis	23090	ZNF423	ORPHA:2318
HP:0002650	Scoliosis	80184	CEP290	ORPHA:2318
HP:0002650	Scoliosis	51259	TMEM216	ORPHA:2318
HP:0002650	Scoliosis	57545	CC2D2A	ORPHA:2318
HP:0002650	Scoliosis	57545	CC2D2A	ORPHA:1454
HP:0002650	Scoliosis	57545	CC2D2A	OMIM:612285
HP:0002650	Scoliosis	3248	HPGD	ORPHA:2796
HP:0002650	Scoliosis	6578	SLCO2A1	ORPHA:2796
HP:0002650	Scoliosis	5422	POLA1	OMIM:301030
HP:0002650	Scoliosis	6792	CDKL5	ORPHA:505652
HP:0002650	Scoliosis	6792	CDKL5	ORPHA:3095
HP:0002650	Scoliosis	6792	CDKL5	OMIM:300672
HP:0002650	Scoliosis	4000	LMNA	OMIM:151660
HP:0002650	Scoliosis	4000	LMNA	OMIM:616516
HP:0002650	Scoliosis	4000	LMNA	OMIM:181350
HP:0002650	Scoliosis	4000	LMNA	ORPHA:98855
HP:0002650	Scoliosis	4000	LMNA	ORPHA:98853
HP:0002650	Scoliosis	79576	NKAP	OMIM:301039
HP:0002650	Scoliosis	8985	PLOD3	OMIM:612394
HP:0002650	Scoliosis	25	ABL1	OMIM:617602
HP:0002650	Scoliosis	23152	CIC	OMIM:617600
HP:0002650	Scoliosis	91147	TMEM67	ORPHA:1454
HP:0002650	Scoliosis	91147	TMEM67	ORPHA:475
HP:0002650	Scoliosis	57449	PLEKHG5	OMIM:611067
HP:0002650	Scoliosis	57449	PLEKHG5	OMIM:615376
HP:0002650	Scoliosis	860	RUNX2	ORPHA:1452
HP:0002650	Scoliosis	860	RUNX2	OMIM:119600
HP:0002650	Scoliosis	139285	AMER1	ORPHA:2780
HP:0002650	Scoliosis	139285	AMER1	OMIM:300373
HP:0002650	Scoliosis	2313	FLI1	ORPHA:2308
HP:0002650	Scoliosis	538	ATP7A	ORPHA:198
HP:0002650	Scoliosis	157680	VPS13B	ORPHA:193
HP:0002650	Scoliosis	9150	CTDP1	ORPHA:48431
HP:0002650	Scoliosis	8270	LAGE3	OMIM:301006
HP:0002650	Scoliosis	2517	FUCA1	OMIM:230000
HP:0002650	Scoliosis	1861	TOR1A	OMIM:618947
HP:0002650	Scoliosis	1861	TOR1A	OMIM:128100
HP:0002650	Scoliosis	80152	CENPT	OMIM:618702
HP:0002650	Scoliosis	5352	PLOD2	ORPHA:2771
HP:0002650	Scoliosis	60681	FKBP10	ORPHA:2771
HP:0002650	Scoliosis	60681	FKBP10	OMIM:610968
HP:0002650	Scoliosis	60681	FKBP10	OMIM:259450
HP:0002650	Scoliosis	60681	FKBP10	ORPHA:1149
HP:0002650	Scoliosis	8292	COLQ	ORPHA:98915
HP:0002650	Scoliosis	8292	COLQ	OMIM:603034
HP:0002650	Scoliosis	3913	LAMB2	ORPHA:98915
HP:0002650	Scoliosis	6329	SCN4A	ORPHA:98913
HP:0002650	Scoliosis	6329	SCN4A	OMIM:620351
HP:0002650	Scoliosis	6329	SCN4A	OMIM:620369
HP:0002650	Scoliosis	1305	COL13A1	ORPHA:98913
HP:0002650	Scoliosis	1140	CHRNB1	ORPHA:98913
HP:0002650	Scoliosis	1144	CHRND	ORPHA:98913
HP:0002650	Scoliosis	1145	CHRNE	ORPHA:98913
HP:0002650	Scoliosis	375790	AGRN	ORPHA:98913
HP:0002650	Scoliosis	221264	AK9	ORPHA:98913
HP:0002650	Scoliosis	8913	CACNA1G	ORPHA:458803
HP:0002650	Scoliosis	10020	GNE	OMIM:269921
HP:0002650	Scoliosis	84823	LMNB2	OMIM:616540
HP:0002650	Scoliosis	10274	STAG1	OMIM:617635
HP:0002650	Scoliosis	10274	STAG1	ORPHA:502434
HP:0002650	Scoliosis	6137	RPL13	OMIM:618728
HP:0002650	Scoliosis	5879	RAC1	ORPHA:500159
HP:0002650	Scoliosis	5879	RAC1	OMIM:617751
HP:0002650	Scoliosis	85378	TUBGCP6	ORPHA:2518
HP:0002650	Scoliosis	27229	TUBGCP4	ORPHA:2518
HP:0002650	Scoliosis	4621	MYH3	ORPHA:2990
HP:0002650	Scoliosis	4621	MYH3	OMIM:618436
HP:0002650	Scoliosis	4621	MYH3	OMIM:178110
HP:0002650	Scoliosis	4621	MYH3	OMIM:618469
HP:0002650	Scoliosis	4621	MYH3	OMIM:193700
HP:0002650	Scoliosis	4621	MYH3	ORPHA:2053
HP:0002650	Scoliosis	4621	MYH3	ORPHA:1147
HP:0002650	Scoliosis	1146	CHRNG	ORPHA:2990
HP:0002650	Scoliosis	1146	CHRNG	OMIM:265000
HP:0002650	Scoliosis	22930	RAB3GAP1	ORPHA:2510
HP:0002650	Scoliosis	22930	RAB3GAP1	ORPHA:1387
HP:0002650	Scoliosis	25782	RAB3GAP2	ORPHA:2510
HP:0002650	Scoliosis	25782	RAB3GAP2	ORPHA:1387
HP:0002650	Scoliosis	22931	RAB18	ORPHA:2510
HP:0002650	Scoliosis	128637	TBC1D20	ORPHA:2510
HP:0002650	Scoliosis	64131	XYLT1	ORPHA:1425
HP:0002650	Scoliosis	55790	CSGALNACT1	ORPHA:1425
HP:0002650	Scoliosis	55790	CSGALNACT1	OMIM:618870
HP:0002650	Scoliosis	71	ACTG1	ORPHA:2995
HP:0002650	Scoliosis	5286	PIK3C2A	ORPHA:557003
HP:0002650	Scoliosis	5286	PIK3C2A	OMIM:618440
HP:0002650	Scoliosis	8139	GAN	OMIM:256850
HP:0002650	Scoliosis	8139	GAN	ORPHA:643
HP:0002650	Scoliosis	87178	PNPT1	OMIM:608703
HP:0002650	Scoliosis	87178	PNPT1	ORPHA:101111
HP:0002650	Scoliosis	57647	DHX37	OMIM:618731
HP:0002650	Scoliosis	1804	DPP6	OMIM:616311
HP:0002650	Scoliosis	7471	WNT1	OMIM:615220
HP:0002650	Scoliosis	64221	ROBO3	ORPHA:2744
HP:0002650	Scoliosis	1630	DCC	ORPHA:2744
HP:0002650	Scoliosis	1630	DCC	OMIM:617542
HP:0002650	Scoliosis	80169	CTC1	OMIM:612199
HP:0002650	Scoliosis	80169	CTC1	ORPHA:1775
HP:0002650	Scoliosis	7545	ZIC1	OMIM:618736
HP:0002650	Scoliosis	7545	ZIC1	OMIM:616602
HP:0002650	Scoliosis	51763	INPP5K	OMIM:617404
HP:0002650	Scoliosis	79875	THSD4	OMIM:619825
HP:0002650	Scoliosis	79875	THSD4	ORPHA:91387
HP:0002650	Scoliosis	1297	COL9A1	OMIM:614134
HP:0002650	Scoliosis	170302	ARX	ORPHA:2508
HP:0002650	Scoliosis	170302	ARX	OMIM:300004
HP:0002650	Scoliosis	5130	PCYT1A	OMIM:608940
HP:0002650	Scoliosis	5130	PCYT1A	ORPHA:85167
HP:0002650	Scoliosis	246329	STAC3	OMIM:255995
HP:0002650	Scoliosis	3762	KCNJ5	ORPHA:37553
HP:0002650	Scoliosis	1281	COL3A1	ORPHA:2500
HP:0002650	Scoliosis	4322	MMP13	ORPHA:2501
HP:0002650	Scoliosis	8367	H4C5	OMIM:619950
HP:0002650	Scoliosis	8294	H4C9	OMIM:619951
HP:0002650	Scoliosis	9853	RUSC2	OMIM:617773
HP:0002650	Scoliosis	27247	NFU1	OMIM:620938
HP:0002650	Scoliosis	22880	MORC2	OMIM:616688
HP:0002650	Scoliosis	22880	MORC2	OMIM:619090
HP:0002650	Scoliosis	1161	ERCC8	ORPHA:90324
HP:0002650	Scoliosis	1161	ERCC8	ORPHA:90321
HP:0002650	Scoliosis	1161	ERCC8	ORPHA:90322
HP:0002650	Scoliosis	2074	ERCC6	ORPHA:90324
HP:0002650	Scoliosis	2074	ERCC6	ORPHA:90321
HP:0002650	Scoliosis	2074	ERCC6	ORPHA:90322
HP:0002650	Scoliosis	1947	EFNB1	ORPHA:1520
HP:0002650	Scoliosis	1947	EFNB1	OMIM:304110
HP:0002650	Scoliosis	51126	NAA20	OMIM:619717
HP:0002650	Scoliosis	60684	TRAPPC11	OMIM:615356
HP:0002650	Scoliosis	60684	TRAPPC11	ORPHA:369847
HP:0002650	Scoliosis	6938	TCF12	OMIM:619718
HP:0002650	Scoliosis	9820	CUL7	ORPHA:2616
HP:0002650	Scoliosis	23363	OBSL1	ORPHA:2616
HP:0002650	Scoliosis	83987	CCDC8	ORPHA:2616
HP:0002650	Scoliosis	755	CFAP410	OMIM:602271
HP:0002650	Scoliosis	4047	LSS	ORPHA:2850
HP:0002650	Scoliosis	197	AHSG	ORPHA:2850
HP:0002650	Scoliosis	3694	ITGB6	ORPHA:2850
HP:0002650	Scoliosis	10060	ABCC9	OMIM:619719
HP:0002650	Scoliosis	22947	DUX4L1	ORPHA:269
HP:0002650	Scoliosis	1789	DNMT3B	ORPHA:269
HP:0002650	Scoliosis	2483	FRG1	ORPHA:269
HP:0002650	Scoliosis	23347	SMCHD1	ORPHA:269
HP:0002650	Scoliosis	100288687	DUX4	ORPHA:269
HP:0002650	Scoliosis	2067	ERCC1	ORPHA:90322
HP:0002650	Scoliosis	3190	HNRNPK	ORPHA:453504
HP:0002650	Scoliosis	3190	HNRNPK	ORPHA:352665
HP:0002650	Scoliosis	3021	H3-3B	OMIM:619721
HP:0002650	Scoliosis	3908	LAMA2	ORPHA:258
HP:0002650	Scoliosis	64175	P3H1	OMIM:610915
HP:0002650	Scoliosis	6660	SOX5	ORPHA:313892
HP:0002650	Scoliosis	6660	SOX5	OMIM:616803
HP:0002650	Scoliosis	84572	GNPTG	OMIM:252605
HP:0002650	Scoliosis	54	ACP5	OMIM:607944
HP:0002650	Scoliosis	5745	PTH1R	ORPHA:296
HP:0002650	Scoliosis	3418	IDH2	ORPHA:296
HP:0002650	Scoliosis	3418	IDH2	ORPHA:163634
HP:0002650	Scoliosis	3417	IDH1	ORPHA:296
HP:0002650	Scoliosis	3417	IDH1	ORPHA:163634
HP:0002650	Scoliosis	9698	PUM1	OMIM:620719
HP:0002650	Scoliosis	9469	CHST3	OMIM:143095
HP:0002650	Scoliosis	9469	CHST3	ORPHA:263463
HP:0002650	Scoliosis	9469	CHST3	OMIM:245600
HP:0002650	Scoliosis	9692	PRORP	OMIM:619737
HP:0002650	Scoliosis	55699	IARS2	ORPHA:436174
HP:0002650	Scoliosis	55699	IARS2	OMIM:616007
HP:0002650	Scoliosis	7920	ABHD16A	OMIM:619735
HP:0002650	Scoliosis	8560	DEGS1	OMIM:618404
HP:0002650	Scoliosis	23761	PISD	OMIM:618889
HP:0002650	Scoliosis	85365	ALG2	OMIM:616228
HP:0002650	Scoliosis	85365	ALG2	ORPHA:353327
HP:0002650	Scoliosis	64359	NXN	ORPHA:1507
HP:0002650	Scoliosis	4920	ROR2	ORPHA:1507
HP:0002650	Scoliosis	4920	ROR2	OMIM:268310
HP:0002650	Scoliosis	1289	COL5A1	ORPHA:287
HP:0002650	Scoliosis	1289	COL5A1	OMIM:619329
HP:0002650	Scoliosis	1290	COL5A2	ORPHA:287
HP:0002650	Scoliosis	8726	EED	OMIM:617561
HP:0002650	Scoliosis	54872	PIGG	ORPHA:280
HP:0002650	Scoliosis	7469	NELFA	ORPHA:280
HP:0002650	Scoliosis	84504	NKX6-2	OMIM:617560
HP:0002650	Scoliosis	84504	NKX6-2	ORPHA:527497
HP:0002650	Scoliosis	1656	DDX6	OMIM:618653
HP:0002650	Scoliosis	5424	POLD1	OMIM:615381
HP:0002650	Scoliosis	1501	CTNND2	ORPHA:281
HP:0002650	Scoliosis	9037	SEMA5A	ORPHA:281
HP:0002650	Scoliosis	88	ACTN2	OMIM:618654
HP:0002650	Scoliosis	57178	ZMIZ1	OMIM:618659
HP:0002650	Scoliosis	80208	SPG11	ORPHA:2822
HP:0002650	Scoliosis	80208	SPG11	ORPHA:300605
HP:0002650	Scoliosis	55012	PPP2R3C	OMIM:618419
HP:0002650	Scoliosis	54840	APTX	OMIM:208920
HP:0002650	Scoliosis	26057	ANKRD17	OMIM:619504
HP:0002650	Scoliosis	284439	SLC25A42	OMIM:618416
HP:0002650	Scoliosis	8642	DCHS1	OMIM:601390
HP:0002650	Scoliosis	79158	GNPTAB	OMIM:252600
HP:0002650	Scoliosis	3476	IGBP1	ORPHA:52055
HP:0002650	Scoliosis	9851	KIAA0753	ORPHA:475
HP:0002650	Scoliosis	5147	PDE6D	ORPHA:475
HP:0002650	Scoliosis	79600	TCTN1	ORPHA:475
HP:0002650	Scoliosis	79848	CSPP1	ORPHA:475
HP:0002650	Scoliosis	8481	OFD1	ORPHA:475
HP:0002650	Scoliosis	65250	CPLANE1	ORPHA:475
HP:0002650	Scoliosis	200894	ARL13B	ORPHA:475
HP:0002650	Scoliosis	9731	CEP104	ORPHA:475
HP:0002650	Scoliosis	219844	HYLS1	ORPHA:475
HP:0002650	Scoliosis	23247	KATNIP	ORPHA:475
HP:0002650	Scoliosis	219854	TMEM218	ORPHA:475
HP:0002650	Scoliosis	9786	KIAA0586	ORPHA:475
HP:0002650	Scoliosis	26123	TCTN3	ORPHA:475
HP:0002650	Scoliosis	79867	TCTN2	ORPHA:475
HP:0002650	Scoliosis	80776	B9D2	ORPHA:475
HP:0002650	Scoliosis	10464	PIBF1	ORPHA:475
HP:0002650	Scoliosis	80210	ARMC9	ORPHA:475
HP:0002650	Scoliosis	23116	TOGARAM1	ORPHA:475
HP:0002650	Scoliosis	25776	CBY1	ORPHA:475
HP:0002650	Scoliosis	27077	B9D1	ORPHA:475
HP:0002650	Scoliosis	403	ARL3	ORPHA:475
HP:0002650	Scoliosis	80173	IFT74	ORPHA:475
HP:0002650	Scoliosis	3981	LIG4	ORPHA:235
HP:0002650	Scoliosis	54888	NSUN2	ORPHA:235
HP:0002650	Scoliosis	56006	SMG9	OMIM:619995
HP:0002650	Scoliosis	85301	COL27A1	OMIM:615155
HP:0002650	Scoliosis	51604	PIGT	OMIM:615398
HP:0002650	Scoliosis	51604	PIGT	ORPHA:369837
HP:0002650	Scoliosis	9453	GGPS1	OMIM:619518
HP:0002650	Scoliosis	54902	TTC19	OMIM:615157
HP:0002650	Scoliosis	57863	CADM3	OMIM:619519
HP:0002650	Scoliosis	2550	GABBR1	OMIM:620502
HP:0002650	Scoliosis	93986	FOXP2	ORPHA:251061
HP:0002650	Scoliosis	8898	MTMR2	OMIM:601382
HP:0002650	Scoliosis	8517	IKBKG	ORPHA:464
HP:0002650	Scoliosis	56052	ALG1	ORPHA:79327
HP:0002650	Scoliosis	4247	MGAT2	ORPHA:79329
HP:0002650	Scoliosis	8314	BAP1	OMIM:619762
HP:0002650	Scoliosis	7750	ZMYM2	OMIM:619522
HP:0002650	Scoliosis	59336	PRDM13	OMIM:619761
HP:0002650	Scoliosis	6942	TCF20	OMIM:618430
HP:0002650	Scoliosis	2542	SLC37A4	OMIM:619525
HP:0002650	Scoliosis	57466	SCAF4	OMIM:620511
HP:0002650	Scoliosis	9562	MINPP1	OMIM:619527
HP:0002650	Scoliosis	6925	TCF4	OMIM:610954
HP:0002650	Scoliosis	6925	TCF4	ORPHA:2896
HP:0002650	Scoliosis	11107	PRDM5	ORPHA:90354
HP:0002650	Scoliosis	3835	KIF22	OMIM:603546
HP:0002650	Scoliosis	3835	KIF22	ORPHA:93360
HP:0002650	Scoliosis	23162	MAPK8IP3	OMIM:618443
HP:0002650	Scoliosis	54941	RNF125	OMIM:616260
HP:0002650	Scoliosis	339855	KY	OMIM:617114
HP:0002650	Scoliosis	2006	ELN	ORPHA:90348
HP:0002650	Scoliosis	2006	ELN	ORPHA:904
HP:0002650	Scoliosis	2006	ELN	ORPHA:91387
HP:0002650	Scoliosis	10516	FBLN5	ORPHA:90348
HP:0002650	Scoliosis	10516	FBLN5	OMIM:614434
HP:0002650	Scoliosis	5832	ALDH18A1	ORPHA:90348
HP:0002650	Scoliosis	5832	ALDH18A1	OMIM:219150
HP:0002650	Scoliosis	23219	FBXO28	OMIM:619777
HP:0002650	Scoliosis	1107	CHD3	OMIM:618205
HP:0002650	Scoliosis	51062	ATL1	OMIM:182600
HP:0002650	Scoliosis	29929	ALG6	ORPHA:79320
HP:0002650	Scoliosis	79087	ALG12	ORPHA:79324
HP:0002650	Scoliosis	79628	SH3TC2	OMIM:601596
HP:0002650	Scoliosis	79628	SH3TC2	ORPHA:99949
HP:0002650	Scoliosis	6595	SMARCA2	OMIM:601358
HP:0002650	Scoliosis	6595	SMARCA2	ORPHA:3051
HP:0002650	Scoliosis	6595	SMARCA2	OMIM:619293
HP:0002650	Scoliosis	1749	DLX5	OMIM:220600
HP:0002650	Scoliosis	8295	TRRAP	OMIM:618454
HP:0002650	Scoliosis	8621	CDK13	OMIM:617360
HP:0002650	Scoliosis	51117	COQ4	OMIM:616276
HP:0002650	Scoliosis	3763	KCNJ6	OMIM:614098
HP:0002650	Scoliosis	3763	KCNJ6	ORPHA:435628
HP:0002650	Scoliosis	5587	PRKD1	OMIM:617364
HP:0002650	Scoliosis	29968	PSAT1	OMIM:616038
HP:0002650	Scoliosis	6709	SPTAN1	OMIM:620538
HP:0002650	Scoliosis	27145	FILIP1	OMIM:620775
HP:0002650	Scoliosis	6857	SYT1	OMIM:618218
HP:0002650	Scoliosis	6857	SYT1	ORPHA:522077
HP:0002650	Scoliosis	6654	SOS1	OMIM:610733
HP:0002650	Scoliosis	6654	SOS1	ORPHA:648
HP:0002650	Scoliosis	5277	PIGA	OMIM:301072
HP:0002650	Scoliosis	5277	PIGA	OMIM:300868
HP:0002650	Scoliosis	5277	PIGA	ORPHA:293181
HP:0002650	Scoliosis	8905	AP1S2	OMIM:304340
HP:0002650	Scoliosis	8905	AP1S2	ORPHA:85335
HP:0002650	Scoliosis	6909	TBX2	OMIM:618223
HP:0002650	Scoliosis	9759	HDAC4	OMIM:619797
HP:0002650	Scoliosis	54892	NCAPG2	OMIM:618460
HP:0002650	Scoliosis	55628	ZNF407	OMIM:619557
HP:0002650	Scoliosis	1756	DMD	OMIM:310200
HP:0002650	Scoliosis	1756	DMD	ORPHA:98896
HP:0002650	Scoliosis	6323	SCN1A	OMIM:619317
HP:0002650	Scoliosis	6323	SCN1A	ORPHA:293181
HP:0002650	Scoliosis	203547	VMA21	OMIM:310440
HP:0002650	Scoliosis	170689	ADAMTS15	OMIM:620545
HP:0002650	Scoliosis	7443	VRK1	OMIM:620542
HP:0002650	Scoliosis	84320	ACBD6	OMIM:620785
HP:0002650	Scoliosis	2202	EFEMP1	OMIM:620780
HP:0002650	Scoliosis	22854	NTNG1	ORPHA:3095
HP:0002650	Scoliosis	9568	GABBR2	ORPHA:3095
HP:0002650	Scoliosis	9568	GABBR2	OMIM:617904
HP:0002650	Scoliosis	60482	SLC5A7	OMIM:617143
HP:0002650	Scoliosis	51103	NDUFAF1	OMIM:618234
HP:0002650	Scoliosis	3714	JAG2	OMIM:619566
HP:0002650	Scoliosis	79868	ALG13	OMIM:300884
HP:0002650	Scoliosis	29998	BICRA	OMIM:619325
HP:0002650	Scoliosis	6651	SON	OMIM:617140
HP:0002650	Scoliosis	23586	RIGI	OMIM:616298
HP:0002650	Scoliosis	79133	NDUFAF5	OMIM:618238
HP:0002650	Scoliosis	157922	CAMSAP1	OMIM:620316
HP:0002650	Scoliosis	137682	NDUFAF6	OMIM:618239
HP:0002650	Scoliosis	2581	GALC	ORPHA:206448
HP:0002650	Scoliosis	10073	SNUPN	OMIM:620793
HP:0002650	Scoliosis	6263	RYR3	OMIM:620310
HP:0002650	Scoliosis	161725	OTUD7A	OMIM:620790
HP:0002650	Scoliosis	6904	TBCD	ORPHA:496641
HP:0002650	Scoliosis	6904	TBCD	OMIM:617193
HP:0002650	Scoliosis	55967	NDUFA12	OMIM:618244
HP:0002650	Scoliosis	28982	FLVCR1	ORPHA:88628
HP:0002650	Scoliosis	28982	FLVCR1	OMIM:609033
HP:0002650	Scoliosis	56915	EXOSC5	OMIM:619576
HP:0002650	Scoliosis	55572	FOXRED1	OMIM:618241
HP:0002650	Scoliosis	182	JAG1	OMIM:619574
HP:0002650	Scoliosis	23476	BRD4	OMIM:620568
HP:0002650	Scoliosis	10092	ARPC5	OMIM:620565
HP:0002650	Scoliosis	4141	MARS1	OMIM:620323
HP:0002650	Scoliosis	9719	ADAMTSL2	ORPHA:1901
HP:0002650	Scoliosis	9509	ADAMTS2	ORPHA:1901
HP:0002650	Scoliosis	10483	SEC23B	ORPHA:201
HP:0002650	Scoliosis	6390	SDHB	ORPHA:201
HP:0002650	Scoliosis	6392	SDHD	ORPHA:201
HP:0002650	Scoliosis	6391	SDHC	ORPHA:201
HP:0002650	Scoliosis	205717	USF3	ORPHA:201
HP:0002650	Scoliosis	100144748	KLLN	ORPHA:201
HP:0002650	Scoliosis	9496	TBX4	ORPHA:261279
HP:0002650	Scoliosis	8091	HMGA2	ORPHA:94063
HP:0002650	Scoliosis	26175	LYSET	OMIM:619345
HP:0002650	Scoliosis	54681	P4HTM	OMIM:618493
HP:0002650	Scoliosis	1822	ATN1	OMIM:618494
HP:0002650	Scoliosis	4015	LOX	OMIM:617168
HP:0002650	Scoliosis	4015	LOX	ORPHA:91387
HP:0002650	Scoliosis	84668	HYCC1	OMIM:610532
HP:0002650	Scoliosis	5573	PRKAR1A	OMIM:101800
HP:0002650	Scoliosis	5573	PRKAR1A	ORPHA:950
HP:0002650	Scoliosis	9531	BAG3	OMIM:612954
HP:0002650	Scoliosis	8425	LTBP4	ORPHA:98896
HP:0002650	Scoliosis	80185	TTI2	ORPHA:391307
HP:0002650	Scoliosis	1300	COL10A1	OMIM:156500
HP:0002650	Scoliosis	6424	SFRP4	OMIM:265900
HP:0002650	Scoliosis	57003	CCDC47	OMIM:618268
HP:0002650	Scoliosis	716	C1S	OMIM:617174
HP:0002650	Scoliosis	29895	MYL11	OMIM:619110
HP:0002650	Scoliosis	5457	POU4F1	OMIM:619352
HP:0002650	Scoliosis	35	ACADS	OMIM:201470
HP:0002650	Scoliosis	145173	B3GLCT	OMIM:261540
HP:0002650	Scoliosis	285590	SH3PXD2B	ORPHA:137834
HP:0002650	Scoliosis	2776	GNAQ	ORPHA:624
HP:0002650	Scoliosis	79809	TTC21B	OMIM:613819
HP:0002650	Scoliosis	2571	GAD1	OMIM:619124
HP:0002650	Scoliosis	90522	YIF1B	OMIM:619125
HP:0002650	Scoliosis	440138	ALG11	ORPHA:280071
HP:0002650	Scoliosis	51715	RAB23	OMIM:201000
HP:0002650	Scoliosis	6472	SHMT2	OMIM:619121
HP:0002650	Scoliosis	57704	GBA2	ORPHA:320391
HP:0002650	Scoliosis	57704	GBA2	OMIM:614409
HP:0002650	Scoliosis	57704	GBA2	ORPHA:352641
HP:0002650	Scoliosis	5080	PAX6	ORPHA:893
HP:0002650	Scoliosis	7490	WT1	ORPHA:893
HP:0002650	Scoliosis	627	BDNF	ORPHA:893
HP:0002650	Scoliosis	55252	ASXL2	OMIM:617190
HP:0002650	Scoliosis	5077	PAX3	ORPHA:894
HP:0002650	Scoliosis	26137	ZBTB20	ORPHA:3042
HP:0002650	Scoliosis	84295	PHF6	OMIM:301900
HP:0002650	Scoliosis	11014	KDELR2	OMIM:619131
HP:0002650	Scoliosis	2733	GLE1	OMIM:611890
HP:0002650	Scoliosis	22800	RRAS2	ORPHA:648
HP:0002650	Scoliosis	867	CBL	ORPHA:648
HP:0002650	Scoliosis	6016	RIT1	ORPHA:648
HP:0002650	Scoliosis	6237	RRAS	ORPHA:648
HP:0002650	Scoliosis	22808	MRAS	ORPHA:648
HP:0002650	Scoliosis	3845	KRAS	ORPHA:648
HP:0002650	Scoliosis	3845	KRAS	ORPHA:1340
HP:0002650	Scoliosis	200734	SPRED2	ORPHA:648
HP:0002650	Scoliosis	4893	NRAS	ORPHA:648
HP:0002650	Scoliosis	6655	SOS2	ORPHA:648
HP:0002650	Scoliosis	5922	RASA2	ORPHA:648
HP:0002650	Scoliosis	5479	PPIB	OMIM:259440
HP:0002650	Scoliosis	4693	NDP	ORPHA:649
HP:0002650	Scoliosis	55074	OXR1	OMIM:213000
HP:0002650	Scoliosis	5076	PAX2	OMIM:120330
HP:0002650	Scoliosis	5376	PMP22	ORPHA:640
HP:0002650	Scoliosis	5376	PMP22	ORPHA:3115
HP:0002650	Scoliosis	5376	PMP22	OMIM:145900
HP:0002650	Scoliosis	11011	TLK2	OMIM:618050
HP:0002650	Scoliosis	129285	PPP1R21	OMIM:619383
HP:0002650	Scoliosis	221692	PHACTR1	OMIM:618298
HP:0002650	Scoliosis	3708	ITPR1	OMIM:206700
HP:0002650	Scoliosis	161742	SPRED1	ORPHA:137605
HP:0002650	Scoliosis	871	SERPINH1	OMIM:613848
HP:0002650	Scoliosis	121340	SP7	OMIM:613849
HP:0002650	Scoliosis	5144	PDE4D	ORPHA:950
HP:0002650	Scoliosis	7421	VDR	ORPHA:93160
HP:0002650	Scoliosis	23769	FLRT1	ORPHA:320406
HP:0002650	Scoliosis	64837	KLC2	ORPHA:320406
HP:0002650	Scoliosis	64837	KLC2	OMIM:609541
HP:0002650	Scoliosis	10262	SF3B4	OMIM:154400
HP:0002650	Scoliosis	9871	SEC24D	ORPHA:2050
HP:0002650	Scoliosis	347734	SLC35B2	OMIM:620269
HP:0002650	Scoliosis	6326	SCN2A	ORPHA:293181
HP:0002650	Scoliosis	57468	SLC12A5	ORPHA:293181
HP:0002650	Scoliosis	23236	PLCB1	ORPHA:293181
HP:0002650	Scoliosis	3785	KCNQ2	ORPHA:293181
HP:0002650	Scoliosis	57582	KCNT1	ORPHA:293181
HP:0002650	Scoliosis	79751	SLC25A22	ORPHA:293181
HP:0002650	Scoliosis	57465	TBC1D24	ORPHA:293181
HP:0002650	Scoliosis	10992	SF3B2	OMIM:164210
HP:0002650	Scoliosis	1119	CHKA	OMIM:620023
HP:0002650	Scoliosis	118987	PDZD8	OMIM:620021
HP:0002650	Scoliosis	8443	GNPAT	OMIM:222765
HP:0002650	Scoliosis	10324	KLHL41	ORPHA:171436
HP:0002650	Scoliosis	10324	KLHL41	OMIM:615731
HP:0002650	Scoliosis	10324	KLHL41	ORPHA:171439
HP:0002650	Scoliosis	56203	LMOD3	ORPHA:171436
HP:0002650	Scoliosis	1073	CFL2	ORPHA:171436
HP:0002650	Scoliosis	100996717	NOTCH2NLC	ORPHA:2289
HP:0002650	Scoliosis	8200	GDF5	ORPHA:93388
HP:0002650	Scoliosis	8200	GDF5	ORPHA:968
HP:0002650	Scoliosis	658	BMPR1B	ORPHA:93388
HP:0002650	Scoliosis	2673	GFPT1	ORPHA:353327
HP:0002650	Scoliosis	199857	ALG14	ORPHA:353327
HP:0002650	Scoliosis	1351	COX8A	OMIM:619059
HP:0002650	Scoliosis	100131801	PET100	OMIM:619055
HP:0002650	Scoliosis	3899	AFF3	OMIM:619297
HP:0002650	Scoliosis	7040	TGFB1	OMIM:131300
HP:0002650	Scoliosis	7040	TGFB1	ORPHA:1328
HP:0002650	Scoliosis	274	BIN1	OMIM:255200
HP:0002650	Scoliosis	7840	ALMS1	OMIM:203800
HP:0002650	Scoliosis	10558	SPTLC1	OMIM:620285
HP:0002650	Scoliosis	10558	SPTLC1	ORPHA:300605
HP:0002650	Scoliosis	4633	MYL2	ORPHA:2020
HP:0002650	Scoliosis	9200	HACD1	ORPHA:2020
HP:0002650	Scoliosis	51776	MAP3K20	ORPHA:2020
HP:0002650	Scoliosis	51776	MAP3K20	OMIM:617760
HP:0002650	Scoliosis	79813	EHMT1	OMIM:610253
HP:0002650	Scoliosis	649	BMP1	OMIM:614856
HP:0002650	Scoliosis	4853	NOTCH2	ORPHA:955
HP:0002650	Scoliosis	374393	FAM111B	OMIM:615704
HP:0002650	Scoliosis	6911	TBX6	OMIM:122600
HP:0002650	Scoliosis	6911	TBX6	ORPHA:1797
HP:0002650	Scoliosis	121512	FGD4	OMIM:609311
HP:0002650	Scoliosis	2335	FN1	OMIM:184255
HP:0002650	Scoliosis	2335	FN1	ORPHA:93315
HP:0002650	Scoliosis	375	ARF1	ORPHA:98892
HP:0002650	Scoliosis	4131	MAP1B	ORPHA:98892
HP:0002650	Scoliosis	23327	NEDD4L	ORPHA:98892
HP:0002650	Scoliosis	160418	TMTC3	ORPHA:98892
HP:0002650	Scoliosis	10564	ARFGEF2	ORPHA:98892
HP:0002650	Scoliosis	1267	CNP	OMIM:619071
HP:0002650	Scoliosis	1857	DVL3	ORPHA:3107
HP:0002650	Scoliosis	1857	DVL3	OMIM:616894
HP:0002650	Scoliosis	7474	WNT5A	ORPHA:3107
HP:0002650	Scoliosis	6804	STX1A	ORPHA:904
HP:0002650	Scoliosis	7461	CLIP2	ORPHA:904
HP:0002650	Scoliosis	84277	DNAJC30	ORPHA:904
HP:0002650	Scoliosis	8468	FKBP6	ORPHA:904
HP:0002650	Scoliosis	5982	RFC2	ORPHA:904
HP:0002650	Scoliosis	2969	GTF2I	ORPHA:904
HP:0002650	Scoliosis	3984	LIMK1	ORPHA:904
HP:0002650	Scoliosis	9569	GTF2IRD1	ORPHA:904
HP:0002650	Scoliosis	155382	VPS37D	ORPHA:904
HP:0002650	Scoliosis	155368	METTL27	ORPHA:904
HP:0002650	Scoliosis	114049	BUD23	ORPHA:904
HP:0002650	Scoliosis	7458	EIF4H	ORPHA:904
HP:0002650	Scoliosis	84163	GTF2IRD2	ORPHA:904
HP:0002650	Scoliosis	26608	TBL2	ORPHA:904
HP:0002650	Scoliosis	653361	NCF1	ORPHA:904
HP:0002650	Scoliosis	135886	TMEM270	ORPHA:904
HP:0002650	Scoliosis	9031	BAZ1B	ORPHA:904
HP:0002650	Scoliosis	285175	UNC80	OMIM:616801
HP:0002650	Scoliosis	285175	UNC80	ORPHA:371364
HP:0002650	Scoliosis	81031	SLC2A10	ORPHA:3342
HP:0002650	Scoliosis	81031	SLC2A10	OMIM:208050
HP:0002650	Scoliosis	9990	SLC12A6	OMIM:620068
HP:0002650	Scoliosis	9990	SLC12A6	OMIM:218000
HP:0002650	Scoliosis	10236	HNRNPR	OMIM:620073
HP:0002650	Scoliosis	2521	FUS	ORPHA:300605
HP:0002650	Scoliosis	10280	SIGMAR1	ORPHA:300605
HP:0002650	Scoliosis	5594	MAPK1	OMIM:619087
HP:0002650	Scoliosis	8838	CCN6	ORPHA:1159
HP:0002650	Scoliosis	23065	EMC1	ORPHA:480898
HP:0002650	Scoliosis	23065	EMC1	OMIM:616875
HP:0002650	Scoliosis	3187	HNRNPH1	OMIM:620083
HP:0002650	Scoliosis	4677	NARS1	OMIM:619091
HP:0002650	Scoliosis	7140	TNNT3	ORPHA:1147
HP:0002650	Scoliosis	84665	MYPN	ORPHA:171439
HP:0002650	Scoliosis	390594	KBTBD13	ORPHA:171439
HP:0002650	Scoliosis	55681	SCYL2	ORPHA:1143
HP:0002650	Scoliosis	84570	COL25A1	ORPHA:1143
HP:0002650	Scoliosis	57222	ERGIC1	ORPHA:1143
HP:0002650	Scoliosis	2688	GH1	OMIM:173100
HP:0002650	Scoliosis	81846	SBF2	ORPHA:99956
HP:0002650	Scoliosis	9939	RBM8A	ORPHA:3320
HP:0002650	Scoliosis	2010	EMD	ORPHA:98863
HP:0002650	Scoliosis	26353	HSPB8	OMIM:608673
HP:0002650	Scoliosis	3329	HSPD1	ORPHA:100994
HP:0002650	Scoliosis	2703	GJA8	OMIM:612474
HP:0002650	Scoliosis	2702	GJA5	OMIM:612474
HP:0002650	Scoliosis	57716	PRX	OMIM:614895
HP:0002650	Scoliosis	57716	PRX	OMIM:145900
HP:0002650	Scoliosis	7043	TGFB3	ORPHA:60030
HP:0002650	Scoliosis	7043	TGFB3	ORPHA:91387
HP:0002650	Scoliosis	55690	PACS1	ORPHA:329224
HP:0002650	Scoliosis	4352	MPL	ORPHA:3319
HP:0002650	Scoliosis	7066	THPO	ORPHA:3319
HP:0002650	Scoliosis	10664	CTCF	OMIM:615502
HP:0002650	Scoliosis	284119	CAVIN1	OMIM:613327
HP:0002650	Scoliosis	23064	SETX	OMIM:606002
HP:0002650	Scoliosis	1959	EGR2	OMIM:145900
HP:0002650	Scoliosis	3720	JARID2	OMIM:620098
HP:0002650	Scoliosis	79188	TMEM43	ORPHA:98853
HP:0002650	Scoliosis	23224	SYNE2	ORPHA:98853
HP:0002650	Scoliosis	54808	DYM	OMIM:607326
HP:0002650	Scoliosis	54808	DYM	OMIM:223800
HP:0002650	Scoliosis	9420	CYP7B1	ORPHA:100986
HP:0002650	Scoliosis	9420	CYP7B1	OMIM:270800
HP:0002650	Scoliosis	579	NKX3-2	OMIM:613330
HP:0002650	Scoliosis	9780	PIEZO1	OMIM:616843
HP:0002650	Scoliosis	3736	KCNA1	ORPHA:37612
HP:0002650	Scoliosis	4297	KMT2A	OMIM:605130
HP:0002650	Scoliosis	101929726	MYMX	ORPHA:1358
HP:0002650	Scoliosis	101929726	MYMX	OMIM:619941
HP:0002650	Scoliosis	4750	NEK1	OMIM:252100
HP:0002650	Scoliosis	5718	PSMD12	ORPHA:529962
HP:0002650	Scoliosis	2186	BPTF	ORPHA:529962
HP:0002650	Scoliosis	84342	COG8	OMIM:611182
HP:0002650	Scoliosis	89874	SLC25A21	OMIM:618811
HP:0002650	Scoliosis	79633	FAT4	OMIM:615546
HP:0002650	Scoliosis	7874	USP7	ORPHA:500055
HP:0002650	Scoliosis	6628	SNRPB	OMIM:117650
HP:0002650	Scoliosis	4929	NR4A2	ORPHA:98808
HP:0002650	Scoliosis	3615	IMPDH2	ORPHA:98808
HP:0002650	Scoliosis	2588	GALNS	OMIM:253000
HP:0002650	Scoliosis	9791	PTDSS1	ORPHA:2658
HP:0002650	Scoliosis	29957	SLC25A24	OMIM:612289
HP:0002650	Scoliosis	490	ATP2B1	OMIM:619910
HP:0002650	Scoliosis	4796	TONSL	ORPHA:93357
HP:0002650	Scoliosis	2670	GFAP	ORPHA:363722
HP:0002650	Scoliosis	2670	GFAP	ORPHA:363717
HP:0002650	Scoliosis	54870	QRICH1	OMIM:617982
HP:0002650	Scoliosis	3295	HSD17B4	OMIM:233400
HP:0002650	Scoliosis	5500	PPP1CB	OMIM:617506
HP:0002650	Scoliosis	54676	GTPBP2	OMIM:617988
HP:0002650	Scoliosis	8241	RBM10	ORPHA:2886
HP:0002650	Scoliosis	2767	GNA11	ORPHA:1556
HP:0002650	Scoliosis	151188	ARL6IP6	ORPHA:1556
HP:0002650	Scoliosis	126792	B3GALT6	ORPHA:536467
HP:0002650	Scoliosis	6529	SLC6A1	OMIM:616421
HP:0002650	Scoliosis	22943	DKK1	ORPHA:268882
HP:0002650	Scoliosis	3664	IRF6	ORPHA:1300
HP:0002650	Scoliosis	8815	BANF1	OMIM:614008
HP:0002650	Scoliosis	10584	COLEC10	ORPHA:293843
HP:0002650	Scoliosis	5648	MASP1	ORPHA:293843
HP:0002650	Scoliosis	78989	COLEC11	ORPHA:293843
HP:0002650	Scoliosis	57731	SPTBN4	OMIM:617519
HP:0002650	Scoliosis	166929	SGMS2	OMIM:126550
HP:0002650	Scoliosis	4848	CNOT2	OMIM:618608
HP:0002650	Scoliosis	3265	HRAS	ORPHA:2874
HP:0002650	Scoliosis	23529	CLCF1	ORPHA:1545
HP:0002650	Scoliosis	9244	CRLF1	ORPHA:1545
HP:0002650	Scoliosis	9203	ZMYM3	OMIM:301111
HP:0002650	Scoliosis	26229	B3GAT3	OMIM:245600
HP:0002650	Scoliosis	51733	UPB1	OMIM:613161
HP:0002650	Scoliosis	2902	GRIN1	OMIM:614254
HP:0002650	Scoliosis	22827	PUF60	OMIM:615583
HP:0002650	Scoliosis	7543	ZFX	OMIM:301118
HP:0002650	Scoliosis	26277	TINF2	ORPHA:1775
HP:0002650	Scoliosis	55651	NHP2	ORPHA:1775
HP:0002650	Scoliosis	79650	USB1	ORPHA:1775
HP:0002650	Scoliosis	55135	WRAP53	ORPHA:1775
HP:0002650	Scoliosis	51750	RTEL1	ORPHA:1775
HP:0002650	Scoliosis	4869	NPM1	ORPHA:1775
HP:0002650	Scoliosis	7012	TERC	ORPHA:1775
HP:0002650	Scoliosis	55505	NOP10	ORPHA:1775
HP:0002650	Scoliosis	5073	PARN	ORPHA:1775
HP:0002650	Scoliosis	7015	TERT	ORPHA:1775
HP:0002650	Scoliosis	1736	DKC1	ORPHA:1775
HP:0002650	Scoliosis	7298	TYMS	ORPHA:1775
HP:0002650	Scoliosis	6736	SRY	ORPHA:1772
HP:0002650	Scoliosis	55753	OGDHL	OMIM:619701
HP:0002650	Scoliosis	58508	KMT2C	OMIM:617768
HP:0002650	Scoliosis	9570	GOSR2	OMIM:614018
HP:0002650	Scoliosis	4629	MYH11	ORPHA:91387
HP:0002650	Scoliosis	4089	SMAD4	ORPHA:91387
HP:0002650	Scoliosis	59	ACTA2	ORPHA:91387
HP:0002650	Scoliosis	5592	PRKG1	ORPHA:91387
HP:0002650	Scoliosis	2301	FOXE3	ORPHA:91387
HP:0002650	Scoliosis	4144	MAT2A	ORPHA:91387
HP:0002650	Scoliosis	23493	HEY2	ORPHA:91387
HP:0002650	Scoliosis	8076	MFAP5	ORPHA:91387
HP:0002650	Scoliosis	4638	MYLK	ORPHA:91387
HP:0002650	Scoliosis	6834	SURF1	OMIM:616684
HP:0002650	Scoliosis	11284	PNKP	ORPHA:459033
HP:0002650	Scoliosis	3008	H1-4	OMIM:617537
HP:0002650	Scoliosis	56704	JPH1	OMIM:607831
HP:0002650	Scoliosis	65993	MRPS34	OMIM:617664
HP:0002650	Scoliosis	64412	GZF1	OMIM:617662
HP:0002650	Scoliosis	2137	EXTL3	OMIM:617425
HP:0002650	Scoliosis	3149	HMGB3	OMIM:300915
HP:0002650	Scoliosis	10847	SRCAP	ORPHA:2044
HP:0002650	Scoliosis	10847	SRCAP	OMIM:136140
HP:0002650	Scoliosis	10978	CLP1	OMIM:615803
HP:0002650	Scoliosis	9382	COG1	OMIM:611209
HP:0002650	Scoliosis	9382	COG1	ORPHA:263508
HP:0002650	Scoliosis	10381	TUBB3	ORPHA:300570
HP:0002650	Scoliosis	23184	MESD	OMIM:618644
HP:0002650	Scoliosis	55858	TMEM165	OMIM:614727
HP:0002650	Scoliosis	5191	PEX7	OMIM:215100
HP:0002650	Scoliosis	1193	CLIC2	ORPHA:324410
HP:0002650	Scoliosis	4598	MVK	OMIM:610377
HP:0002650	Scoliosis	165	AEBP1	ORPHA:536532
HP:0002650	Scoliosis	5654	HTRA1	ORPHA:199354
HP:0002650	Scoliosis	55131	RBM28	ORPHA:157954
HP:0002650	Scoliosis	55131	RBM28	OMIM:612079
HP:0002650	Scoliosis	9255	AIMP1	OMIM:260600
HP:0002650	Scoliosis	6506	SLC1A2	OMIM:617105
HP:0002650	Scoliosis	51085	MLXIPL	OMIM:194050
HP:0002650	Scoliosis	10667	FARS2	ORPHA:466722
HP:0002650	Scoliosis	10430	TMEM147	OMIM:620075
HP:0002650	Scoliosis	5373	PMM2	ORPHA:79318
HP:0002650	Scoliosis	9147	NEMF	OMIM:619099
HP:0002650	Scoliosis	4313	MMP2	OMIM:259600
HP:0002650	Scoliosis	10397	NDRG1	ORPHA:99950
HP:0002650	Scoliosis	10397	NDRG1	OMIM:601455
HP:0002650	Scoliosis	91252	SLC39A13	OMIM:612350
HP:0002650	Scoliosis	9894	TELO2	OMIM:616954
HP:0002650	Scoliosis	9894	TELO2	ORPHA:488642
HP:0002650	Scoliosis	2744	GLS	OMIM:618339
HP:0002650	Scoliosis	78987	CRELD1	OMIM:620771
HP:0002650	Scoliosis	23111	SPART	OMIM:275900
HP:0002650	Scoliosis	5351	PLOD1	OMIM:225400
HP:0002650	Scoliosis	57122	NUP107	OMIM:618348
HP:0002650	Scoliosis	411	ARSB	OMIM:253200
HP:0002650	Scoliosis	4722	NDUFS3	OMIM:618230
HP:0002650	Scoliosis	55033	FKBP14	OMIM:614557
HP:0002650	Scoliosis	55033	FKBP14	ORPHA:300179
HP:0002650	Scoliosis	2068	ERCC2	OMIM:610756
HP:0002650	Scoliosis	2530	FUT8	OMIM:618005
HP:0002650	Scoliosis	7965	AIMP2	OMIM:618006
HP:0002650	Scoliosis	6678	SPARC	OMIM:616507
HP:0002650	Scoliosis	4547	MTTP	ORPHA:14
HP:0002650	Scoliosis	84896	ATAD1	OMIM:618011
HP:0002650	Scoliosis	1954	MEGF8	ORPHA:65759
HP:0002650	Scoliosis	729920	CRPPA	ORPHA:370980
HP:0002650	Scoliosis	4659	PPP1R12A	OMIM:618820
HP:0002650	Scoliosis	10382	TUBB4A	ORPHA:98805
HP:0002650	Scoliosis	56270	WDR45B	OMIM:617977
HP:0002650	Scoliosis	9060	PAPSS2	OMIM:612847
HP:0002650	Scoliosis	4649	MYO9A	ORPHA:98914
HP:0002650	Scoliosis	1103	CHAT	ORPHA:98914
HP:0002650	Scoliosis	6576	SLC25A1	ORPHA:98914
HP:0002650	Scoliosis	6616	SNAP25	ORPHA:98914
HP:0002650	Scoliosis	55717	WDR11	OMIM:620237
HP:0002650	Scoliosis	84631	SLITRK2	OMIM:301107
HP:0002650	Scoliosis	138050	HGSNAT	OMIM:252930
HP:0002650	Scoliosis	10269	ZMPSTE24	OMIM:275210
HP:0002650	Scoliosis	4137	MAPT	OMIM:260540
HP:0002650	Scoliosis	523	ATP6V1A	OMIM:617403
HP:0002650	Scoliosis	529	ATP6V1E1	OMIM:617402
HP:0002650	Scoliosis	9898	UBAP2L	OMIM:620494
HP:0002650	Scoliosis	91574	MTRFR	ORPHA:254930
HP:0002650	Scoliosis	3094	HINT1	ORPHA:324442
HP:0002650	Scoliosis	124997	WDR81	OMIM:610185
HP:0002650	Scoliosis	5593	PRKG2	OMIM:619636
HP:0002650	Scoliosis	10613	ERLIN1	ORPHA:401785
HP:0002650	Scoliosis	10613	ERLIN1	OMIM:615681
HP:0002650	Scoliosis	7841	MOGS	ORPHA:79330
HP:0002650	Scoliosis	7841	MOGS	OMIM:606056
HP:0002650	Scoliosis	2799	GNS	OMIM:252940
HP:0002650	Scoliosis	5296	PIK3R2	OMIM:603387
HP:0002650	Scoliosis	55969	RAB5IF	OMIM:616994
HP:0002650	Scoliosis	5830	PEX5	OMIM:616716
HP:0002650	Scoliosis	84700	MYO18B	OMIM:616549
HP:0002650	Scoliosis	169792	GLIS3	OMIM:610199
HP:0002650	Scoliosis	2783	GNB2	OMIM:619503
HP:0002650	Scoliosis	3930	LBR	OMIM:618019
HP:0002650	Scoliosis	1009	CDH11	ORPHA:1299
HP:0002650	Scoliosis	25871	NEPRO	OMIM:618853
HP:0002650	Scoliosis	10940	POP1	OMIM:617396
HP:0002650	Scoliosis	8022	LHX3	ORPHA:231720
HP:0002650	Scoliosis	10533	ATG7	OMIM:619422
HP:0002650	Scoliosis	55870	ASH1L	OMIM:617796
HP:0002650	Scoliosis	51199	NIN	OMIM:614851
HP:0002650	Scoliosis	51199	NIN	ORPHA:319675
HP:0002650	Scoliosis	164	AP1G1	OMIM:619548
HP:0002650	Scoliosis	526	ATP6V1B2	ORPHA:79500
HP:0002650	Scoliosis	3373	HYAL1	OMIM:601492
HP:0002650	Scoliosis	7703	PCGF2	OMIM:618371
HP:0002650	Scoliosis	83932	SPRTN	OMIM:616200
HP:0002650	Scoliosis	83737	ITCH	OMIM:613385
HP:0002650	Scoliosis	1674	DES	ORPHA:98909
HP:0002650	Scoliosis	57211	ADGRG6	OMIM:616503
HP:0002650	Scoliosis	29920	PYCR2	ORPHA:481152
HP:0002651	Spondyloepimetaphyseal dysplasia	4148	MATN3	OMIM:608728
HP:0002651	Spondyloepimetaphyseal dysplasia	4921	DDR2	OMIM:271665
HP:0002651	Spondyloepimetaphyseal dysplasia	4322	MMP13	OMIM:602111
HP:0002651	Spondyloepimetaphyseal dysplasia	3835	KIF22	ORPHA:93360
HP:0002651	Spondyloepimetaphyseal dysplasia	3835	KIF22	OMIM:603546
HP:0002651	Spondyloepimetaphyseal dysplasia	126792	B3GALT6	ORPHA:536467
HP:0002651	Spondyloepimetaphyseal dysplasia	126792	B3GALT6	OMIM:271640
HP:0002651	Spondyloepimetaphyseal dysplasia	65992	DDRGK1	OMIM:602557
HP:0002651	Spondyloepimetaphyseal dysplasia	9131	AIFM1	OMIM:300232
HP:0002651	Spondyloepimetaphyseal dysplasia	633	BGN	OMIM:300106
HP:0002651	Spondyloepimetaphyseal dysplasia	1280	COL2A1	OMIM:184250
HP:0002651	Spondyloepimetaphyseal dysplasia	23233	EXOC6B	OMIM:618395
HP:0002651	Spondyloepimetaphyseal dysplasia	89970	RSPRY1	ORPHA:457395
HP:0002651	Spondyloepimetaphyseal dysplasia	55699	IARS2	OMIM:616007
HP:0002651	Spondyloepimetaphyseal dysplasia	54187	NANS	OMIM:610442
HP:0002651	Spondyloepimetaphyseal dysplasia	9060	PAPSS2	OMIM:612847
HP:0002651	Spondyloepimetaphyseal dysplasia	176	ACAN	OMIM:612813
HP:0002651	Spondyloepimetaphyseal dysplasia	4796	TONSL	OMIM:271510
HP:0002651	Spondyloepimetaphyseal dysplasia	54808	DYM	ORPHA:239
HP:0002653	Bone pain	9663	LPIN2	OMIM:609628
HP:0002653	Bone pain	9663	LPIN2	ORPHA:77297
HP:0002653	Bone pain	171023	ASXL1	ORPHA:98850
HP:0002653	Bone pain	171023	ASXL1	ORPHA:98849
HP:0002653	Bone pain	54790	TET2	ORPHA:98850
HP:0002653	Bone pain	54790	TET2	ORPHA:98849
HP:0002653	Bone pain	867	CBL	ORPHA:98850
HP:0002653	Bone pain	861	RUNX1	ORPHA:98850
HP:0002653	Bone pain	6427	SRSF2	ORPHA:98850
HP:0002653	Bone pain	6427	SRSF2	ORPHA:98849
HP:0002653	Bone pain	7421	VDR	ORPHA:93160
HP:0002653	Bone pain	7421	VDR	OMIM:277440
HP:0002653	Bone pain	2778	GNAS	OMIM:174800
HP:0002653	Bone pain	2778	GNAS	ORPHA:562
HP:0002653	Bone pain	2778	GNAS	ORPHA:2762
HP:0002653	Bone pain	2778	GNAS	ORPHA:57782
HP:0002653	Bone pain	23592	LEMD3	ORPHA:166119
HP:0002653	Bone pain	652	BMP4	ORPHA:828
HP:0002653	Bone pain	3815	KIT	ORPHA:98849
HP:0002653	Bone pain	10312	TCIRG1	ORPHA:667
HP:0002653	Bone pain	1186	CLCN7	ORPHA:667
HP:0002653	Bone pain	1186	CLCN7	ORPHA:53
HP:0002653	Bone pain	29887	SNX10	ORPHA:667
HP:0002653	Bone pain	8600	TNFSF11	ORPHA:667
HP:0002653	Bone pain	5604	MAP2K1	ORPHA:389
HP:0002653	Bone pain	4893	NRAS	ORPHA:389
HP:0002653	Bone pain	673	BRAF	ORPHA:389
HP:0002653	Bone pain	79577	CDC73	ORPHA:143
HP:0002653	Bone pain	79577	CDC73	ORPHA:99880
HP:0002653	Bone pain	8792	TNFRSF11A	OMIM:174810
HP:0002653	Bone pain	8792	TNFRSF11A	OMIM:602080
HP:0002653	Bone pain	1184	CLCN5	OMIM:300009
HP:0002653	Bone pain	1184	CLCN5	OMIM:300554
HP:0002653	Bone pain	23095	KIF1B	OMIM:256700
HP:0002653	Bone pain	3248	HPGD	ORPHA:217059
HP:0002653	Bone pain	3248	HPGD	ORPHA:2796
HP:0002653	Bone pain	120227	CYP2R1	OMIM:600081
HP:0002653	Bone pain	120227	CYP2R1	ORPHA:289157
HP:0002653	Bone pain	2304	FOXE1	ORPHA:319487
HP:0002653	Bone pain	3026	HABP2	ORPHA:319487
HP:0002653	Bone pain	9562	MINPP1	ORPHA:319487
HP:0002653	Bone pain	1991	ELANE	ORPHA:2686
HP:0002653	Bone pain	5251	PHEX	OMIM:307800
HP:0002653	Bone pain	5251	PHEX	ORPHA:89936
HP:0002653	Bone pain	5745	PTH1R	ORPHA:296
HP:0002653	Bone pain	3418	IDH2	ORPHA:296
HP:0002653	Bone pain	3418	IDH2	ORPHA:163634
HP:0002653	Bone pain	3417	IDH1	ORPHA:296
HP:0002653	Bone pain	3417	IDH1	ORPHA:163634
HP:0002653	Bone pain	7132	TNFRSF1A	OMIM:142680
HP:0002653	Bone pain	5426	POLE	OMIM:615139
HP:0002653	Bone pain	6578	SLCO2A1	ORPHA:2796
HP:0002653	Bone pain	1175	AP2S1	OMIM:600740
HP:0002653	Bone pain	1594	CYP27B1	OMIM:264700
HP:0002653	Bone pain	1594	CYP27B1	ORPHA:289157
HP:0002653	Bone pain	7010	TEK	ORPHA:1059
HP:0002653	Bone pain	7471	WNT1	ORPHA:85193
HP:0002653	Bone pain	22943	DKK1	ORPHA:85193
HP:0002653	Bone pain	89780	WNT3A	ORPHA:85193
HP:0002653	Bone pain	4853	NOTCH2	ORPHA:955
HP:0002653	Bone pain	5660	PSAP	OMIM:610539
HP:0002653	Bone pain	1588	CYP19A1	ORPHA:91
HP:0002653	Bone pain	8074	FGF23	ORPHA:89937
HP:0002653	Bone pain	8074	FGF23	OMIM:193100
HP:0002653	Bone pain	595	CCND1	ORPHA:29073
HP:0002653	Bone pain	142680	SLC34A3	OMIM:241530
HP:0002653	Bone pain	142680	SLC34A3	ORPHA:157215
HP:0002653	Bone pain	5781	PTPN11	ORPHA:2499
HP:0002653	Bone pain	189	AGXT	OMIM:259900
HP:0002653	Bone pain	540	ATP7B	ORPHA:905
HP:0002653	Bone pain	7305	TYROBP	ORPHA:2770
HP:0002653	Bone pain	54209	TREM2	ORPHA:2770
HP:0002653	Bone pain	7040	TGFB1	ORPHA:1328
HP:0002653	Bone pain	2131	EXT1	ORPHA:502
HP:0002653	Bone pain	5885	RAD21	ORPHA:502
HP:0002653	Bone pain	7227	TRPS1	ORPHA:502
HP:0002653	Bone pain	5345	SERPINF2	ORPHA:79
HP:0002653	Bone pain	2629	GBA1	OMIM:230800
HP:0002653	Bone pain	2629	GBA1	ORPHA:77261
HP:0002653	Bone pain	2629	GBA1	ORPHA:77259
HP:0002653	Bone pain	6569	SLC34A1	OMIM:613388
HP:0002653	Bone pain	6569	SLC34A1	ORPHA:3337
HP:0002653	Bone pain	6569	SLC34A1	ORPHA:157215
HP:0002653	Bone pain	8878	SQSTM1	OMIM:167250
HP:0002653	Bone pain	1962	EHHADH	ORPHA:3337
HP:0002653	Bone pain	2628	GATM	ORPHA:3337
HP:0002653	Bone pain	137682	NDUFAF6	ORPHA:3337
HP:0002653	Bone pain	3554	IL1R1	OMIM:259680
HP:0002653	Bone pain	1758	DMP1	ORPHA:289176
HP:0002653	Bone pain	5167	ENPP1	ORPHA:289176
HP:0002653	Bone pain	7415	VCP	ORPHA:329475
HP:0002653	Bone pain	79158	GNPTAB	ORPHA:423461
HP:0002653	Bone pain	6774	STAT3	ORPHA:520
HP:0002653	Bone pain	5371	PML	ORPHA:520
HP:0002653	Bone pain	5914	RARA	ORPHA:520
HP:0002653	Bone pain	359948	IRF2BP2	ORPHA:520
HP:0002653	Bone pain	81608	FIP1L1	ORPHA:520
HP:0002653	Bone pain	4869	NPM1	ORPHA:520
HP:0002653	Bone pain	5573	PRKAR1A	ORPHA:520
HP:0002653	Bone pain	54880	BCOR	ORPHA:520
HP:0002653	Bone pain	64859	NABP1	ORPHA:520
HP:0002653	Bone pain	6777	STAT5B	ORPHA:520
HP:0002653	Bone pain	4926	NUMA1	ORPHA:520
HP:0002653	Bone pain	7704	ZBTB16	ORPHA:520
HP:0002653	Bone pain	79718	TBL1XR1	ORPHA:520
HP:0002653	Bone pain	57592	ZNF687	OMIM:616833
HP:0002653	Bone pain	5696	PSMB8	OMIM:256040
HP:0002653	Bone pain	950	SCARB2	ORPHA:77259
HP:0002653	Bone pain	4613	MYCN	ORPHA:635
HP:0002653	Bone pain	238	ALK	ORPHA:635
HP:0002653	Bone pain	389421	LIN28B	ORPHA:635
HP:0002653	Bone pain	4004	LMO1	ORPHA:635
HP:0002653	Bone pain	57531	HACE1	ORPHA:635
HP:0002653	Bone pain	8929	PHOX2B	ORPHA:635
HP:0002654	Multiple epiphyseal dysplasia	1836	SLC26A2	OMIM:226900
HP:0002654	Multiple epiphyseal dysplasia	1836	SLC26A2	ORPHA:93307
HP:0002654	Multiple epiphyseal dysplasia	6399	TRAPPC2	ORPHA:93284
HP:0002654	Multiple epiphyseal dysplasia	100151683	RNU4ATAC	OMIM:226960
HP:0002654	Multiple epiphyseal dysplasia	5191	PEX7	OMIM:266500
HP:0002654	Multiple epiphyseal dysplasia	5264	PHYH	OMIM:266500
HP:0002654	Multiple epiphyseal dysplasia	9451	EIF2AK3	OMIM:226980
HP:0002654	Multiple epiphyseal dysplasia	9451	EIF2AK3	ORPHA:1667
HP:0002654	Multiple epiphyseal dysplasia	1297	COL9A1	OMIM:614135
HP:0002654	Multiple epiphyseal dysplasia	374654	KIF7	OMIM:607131
HP:0002654	Multiple epiphyseal dysplasia	374654	KIF7	ORPHA:166024
HP:0002654	Multiple epiphyseal dysplasia	4148	MATN3	OMIM:607078
HP:0002656	Epiphyseal dysplasia	1280	COL2A1	OMIM:132450
HP:0002656	Epiphyseal dysplasia	3835	KIF22	ORPHA:93360
HP:0002656	Epiphyseal dysplasia	50628	GEMIN4	OMIM:617913
HP:0002656	Epiphyseal dysplasia	64131	XYLT1	OMIM:615777
HP:0002656	Epiphyseal dysplasia	100151683	RNU4ATAC	ORPHA:353298
HP:0002656	Epiphyseal dysplasia	100151683	RNU4ATAC	ORPHA:1824
HP:0002656	Epiphyseal dysplasia	55858	TMEM165	OMIM:614727
HP:0002656	Epiphyseal dysplasia	124583	CANT1	OMIM:617719
HP:0002656	Epiphyseal dysplasia	2317	FLNB	OMIM:272460
HP:0002656	Epiphyseal dysplasia	1302	COL11A2	ORPHA:1427
HP:0002656	Epiphyseal dysplasia	1302	COL11A2	OMIM:184840
HP:0002656	Epiphyseal dysplasia	1302	COL11A2	OMIM:215150
HP:0002656	Epiphyseal dysplasia	411	ARSB	OMIM:253200
HP:0002656	Epiphyseal dysplasia	5745	PTH1R	ORPHA:79106
HP:0002656	Epiphyseal dysplasia	59341	TRPV4	OMIM:156530
HP:0002656	Epiphyseal dysplasia	1836	SLC26A2	OMIM:226900
HP:0002656	Epiphyseal dysplasia	1298	COL9A2	OMIM:600204
HP:0002656	Epiphyseal dysplasia	1298	COL9A2	ORPHA:250984
HP:0002656	Epiphyseal dysplasia	9451	EIF2AK3	OMIM:226980
HP:0002656	Epiphyseal dysplasia	1311	COMP	OMIM:132400
HP:0002656	Epiphyseal dysplasia	1299	COL9A3	OMIM:600969
HP:0002656	Epiphyseal dysplasia	1299	COL9A3	ORPHA:250984
HP:0002656	Epiphyseal dysplasia	3313	HSPA9	OMIM:616854
HP:0002656	Epiphyseal dysplasia	1806	DPYD	ORPHA:1675
HP:0002656	Epiphyseal dysplasia	2137	EXTL3	OMIM:617425
HP:0002656	Epiphyseal dysplasia	1297	COL9A1	OMIM:614134
HP:0002656	Epiphyseal dysplasia	1297	COL9A1	ORPHA:250984
HP:0002656	Epiphyseal dysplasia	4882	NPR2	OMIM:615923
HP:0002656	Epiphyseal dysplasia	1028	CDKN1C	OMIM:614732
HP:0002656	Epiphyseal dysplasia	126792	B3GALT6	OMIM:615349
HP:0002656	Epiphyseal dysplasia	126792	B3GALT6	OMIM:271640
HP:0002656	Epiphyseal dysplasia	2799	GNS	OMIM:252940
HP:0002656	Epiphyseal dysplasia	374654	KIF7	OMIM:607131
HP:0002656	Epiphyseal dysplasia	54808	DYM	ORPHA:239
HP:0002656	Epiphyseal dysplasia	4148	MATN3	OMIM:607078
HP:0002656	Epiphyseal dysplasia	4054	LTBP3	OMIM:617809
HP:0002657	Spondylometaphyseal dysplasia	1280	COL2A1	OMIM:184255
HP:0002657	Spondylometaphyseal dysplasia	1280	COL2A1	ORPHA:85198
HP:0002657	Spondylometaphyseal dysplasia	2335	FN1	OMIM:184255
HP:0002657	Spondylometaphyseal dysplasia	59341	TRPV4	OMIM:184252
HP:0002657	Spondylometaphyseal dysplasia	54	ACP5	OMIM:607944
HP:0002657	Spondylometaphyseal dysplasia	9321	TRIP11	OMIM:184260
HP:0002657	Spondylometaphyseal dysplasia	2879	GPX4	ORPHA:93317
HP:0002657	Spondylometaphyseal dysplasia	2879	GPX4	OMIM:250220
HP:0002657	Spondylometaphyseal dysplasia	51025	PAM16	OMIM:613320
HP:0002657	Spondylometaphyseal dysplasia	755	CFAP410	OMIM:602271
HP:0002657	Spondylometaphyseal dysplasia	5130	PCYT1A	OMIM:608940
HP:0010655	Epiphyseal stippling	2317	FLNB	ORPHA:56305
HP:0010655	Epiphyseal stippling	6628	SNRPB	OMIM:117650
HP:0010655	Epiphyseal stippling	8200	GDF5	ORPHA:93384
HP:0010655	Epiphyseal stippling	658	BMPR1B	ORPHA:93384
HP:0010655	Epiphyseal stippling	3930	LBR	OMIM:215140
HP:0010655	Epiphyseal stippling	415	ARSL	OMIM:302950
HP:0010655	Epiphyseal stippling	415	ARSL	ORPHA:79345
HP:0010655	Epiphyseal stippling	5573	PRKAR1A	ORPHA:950
HP:0010655	Epiphyseal stippling	5573	PRKAR1A	OMIM:101800
HP:0010655	Epiphyseal stippling	5144	PDE4D	ORPHA:950
HP:0010655	Epiphyseal stippling	4921	DDR2	OMIM:271665
HP:0010655	Epiphyseal stippling	57020	VPS35L	OMIM:619135
HP:0010655	Epiphyseal stippling	4256	MGP	OMIM:245150
HP:0010655	Epiphyseal stippling	2677	GGCX	OMIM:277450
HP:0010655	Epiphyseal stippling	5190	PEX6	OMIM:614862
HP:0010655	Epiphyseal stippling	5190	PEX6	ORPHA:912
HP:0010655	Epiphyseal stippling	50814	NSDHL	OMIM:308050
HP:0010655	Epiphyseal stippling	8504	PEX3	OMIM:614882
HP:0010655	Epiphyseal stippling	8504	PEX3	ORPHA:912
HP:0010655	Epiphyseal stippling	5828	PEX2	OMIM:614866
HP:0010655	Epiphyseal stippling	5828	PEX2	ORPHA:912
HP:0010655	Epiphyseal stippling	7068	THRB	OMIM:274300
HP:0010655	Epiphyseal stippling	4758	NEU1	OMIM:256550
HP:0010655	Epiphyseal stippling	5191	PEX7	OMIM:215100
HP:0010655	Epiphyseal stippling	10682	EBP	OMIM:302960
HP:0010655	Epiphyseal stippling	10682	EBP	ORPHA:35173
HP:0010655	Epiphyseal stippling	2990	GUSB	ORPHA:584
HP:0010655	Epiphyseal stippling	1717	DHCR7	OMIM:270400
HP:0010655	Epiphyseal stippling	8540	AGPS	OMIM:600121
HP:0010655	Epiphyseal stippling	8443	GNPAT	OMIM:222765
HP:0010655	Epiphyseal stippling	5189	PEX1	OMIM:601539
HP:0010655	Epiphyseal stippling	5189	PEX1	ORPHA:912
HP:0010655	Epiphyseal stippling	5189	PEX1	OMIM:214100
HP:0010655	Epiphyseal stippling	5192	PEX10	OMIM:614870
HP:0010655	Epiphyseal stippling	5192	PEX10	ORPHA:912
HP:0010655	Epiphyseal stippling	55670	PEX26	OMIM:614872
HP:0010655	Epiphyseal stippling	55670	PEX26	ORPHA:912
HP:0010655	Epiphyseal stippling	9409	PEX16	OMIM:614876
HP:0010655	Epiphyseal stippling	9409	PEX16	ORPHA:912
HP:0010655	Epiphyseal stippling	5193	PEX12	OMIM:614859
HP:0010655	Epiphyseal stippling	5193	PEX12	ORPHA:912
HP:0010655	Epiphyseal stippling	5824	PEX19	ORPHA:912
HP:0010655	Epiphyseal stippling	8799	PEX11B	ORPHA:912
HP:0010655	Epiphyseal stippling	5830	PEX5	ORPHA:912
HP:0010655	Epiphyseal stippling	5194	PEX13	ORPHA:912
HP:0010655	Epiphyseal stippling	5195	PEX14	ORPHA:912
HP:0010655	Epiphyseal stippling	388015	RTL1	ORPHA:96334
HP:0010655	Epiphyseal stippling	8788	DLK1	ORPHA:96334
HP:0010655	Epiphyseal stippling	55384	MEG3	ORPHA:96334
HP:0010655	Epiphyseal stippling	1277	COL1A1	OMIM:166220
HP:0010655	Epiphyseal stippling	1277	COL1A1	OMIM:259420
HP:0010655	Epiphyseal stippling	1278	COL1A2	OMIM:166220
HP:0010655	Epiphyseal stippling	1278	COL1A2	OMIM:259420
HP:0010655	Epiphyseal stippling	5034	P4HB	OMIM:112240
HP:0041068	Chronic decreased circulating IgG1	7737	RNF113A	OMIM:300953
HP:0041068	Chronic decreased circulating IgG1	1380	CR2	OMIM:614699
HP:0034669	Abnormal knee morphology	1497	CTNS	OMIM:219800
HP:0034669	Abnormal knee morphology	875	CBS	ORPHA:394
HP:0034669	Abnormal knee morphology	7421	VDR	ORPHA:93160
HP:0034669	Abnormal knee morphology	2131	EXT1	OMIM:133700
HP:0034669	Abnormal knee morphology	2131	EXT1	ORPHA:321
HP:0034669	Abnormal knee morphology	2131	EXT1	ORPHA:502
HP:0034669	Abnormal knee morphology	51256	TBC1D7	OMIM:248000
HP:0034669	Abnormal knee morphology	2132	EXT2	OMIM:133701
HP:0034669	Abnormal knee morphology	2132	EXT2	ORPHA:321
HP:0034669	Abnormal knee morphology	2972	BRF1	OMIM:616202
HP:0034669	Abnormal knee morphology	652	BMP4	ORPHA:828
HP:0034669	Abnormal knee morphology	7360	UGP2	OMIM:618744
HP:0034669	Abnormal knee morphology	10992	SF3B2	OMIM:164210
HP:0034669	Abnormal knee morphology	538	ATP7A	OMIM:304150
HP:0034669	Abnormal knee morphology	538	ATP7A	ORPHA:198
HP:0034669	Abnormal knee morphology	1836	SLC26A2	ORPHA:56304
HP:0034669	Abnormal knee morphology	1836	SLC26A2	ORPHA:93307
HP:0034669	Abnormal knee morphology	1836	SLC26A2	ORPHA:628
HP:0034669	Abnormal knee morphology	1836	SLC26A2	OMIM:222600
HP:0034669	Abnormal knee morphology	4125	MAN2B1	ORPHA:309282
HP:0034669	Abnormal knee morphology	58	ACTA1	ORPHA:171436
HP:0034669	Abnormal knee morphology	7169	TPM2	ORPHA:171436
HP:0034669	Abnormal knee morphology	4703	NEB	ORPHA:171436
HP:0034669	Abnormal knee morphology	10324	KLHL41	ORPHA:171436
HP:0034669	Abnormal knee morphology	56203	LMOD3	ORPHA:171436
HP:0034669	Abnormal knee morphology	1073	CFL2	ORPHA:171436
HP:0034669	Abnormal knee morphology	1278	COL1A2	ORPHA:230851
HP:0034669	Abnormal knee morphology	3021	H3-3B	OMIM:619721
HP:0034669	Abnormal knee morphology	55790	CSGALNACT1	OMIM:618870
HP:0034669	Abnormal knee morphology	23322	RPGRIP1L	OMIM:611560
HP:0034669	Abnormal knee morphology	176	ACAN	OMIM:608361
HP:0034669	Abnormal knee morphology	10686	CLDN16	OMIM:248250
HP:0034669	Abnormal knee morphology	54681	P4HTM	ORPHA:436141
HP:0034669	Abnormal knee morphology	54681	P4HTM	OMIM:618493
HP:0034669	Abnormal knee morphology	84572	GNPTG	OMIM:252605
HP:0034669	Abnormal knee morphology	5745	PTH1R	ORPHA:296
HP:0034669	Abnormal knee morphology	3418	IDH2	ORPHA:296
HP:0034669	Abnormal knee morphology	3417	IDH1	ORPHA:296
HP:0034669	Abnormal knee morphology	64324	NSD1	OMIM:117550
HP:0034669	Abnormal knee morphology	7040	TGFB1	OMIM:131300
HP:0034669	Abnormal knee morphology	7040	TGFB1	ORPHA:1328
HP:0034669	Abnormal knee morphology	9469	CHST3	OMIM:143095
HP:0034669	Abnormal knee morphology	9469	CHST3	ORPHA:263463
HP:0034669	Abnormal knee morphology	9469	CHST3	OMIM:245600
HP:0034669	Abnormal knee morphology	54880	BCOR	ORPHA:2712
HP:0034669	Abnormal knee morphology	815	CAMK2A	OMIM:617798
HP:0034669	Abnormal knee morphology	4853	NOTCH2	OMIM:102500
HP:0034669	Abnormal knee morphology	10381	TUBB3	ORPHA:300570
HP:0034669	Abnormal knee morphology	55699	IARS2	ORPHA:436174
HP:0034669	Abnormal knee morphology	55699	IARS2	OMIM:616007
HP:0034669	Abnormal knee morphology	83480	PUS3	ORPHA:488627
HP:0034669	Abnormal knee morphology	157680	VPS13B	OMIM:216550
HP:0034669	Abnormal knee morphology	157680	VPS13B	ORPHA:193
HP:0034669	Abnormal knee morphology	5566	PRKACA	ORPHA:289
HP:0034669	Abnormal knee morphology	5566	PRKACA	OMIM:619142
HP:0034669	Abnormal knee morphology	5567	PRKACB	ORPHA:289
HP:0034669	Abnormal knee morphology	5567	PRKACB	OMIM:619143
HP:0034669	Abnormal knee morphology	2735	GLI1	ORPHA:289
HP:0034669	Abnormal knee morphology	2735	GLI1	OMIM:618123
HP:0034669	Abnormal knee morphology	2121	EVC	ORPHA:289
HP:0034669	Abnormal knee morphology	2121	EVC	OMIM:225500
HP:0034669	Abnormal knee morphology	51626	DYNC2LI1	ORPHA:289
HP:0034669	Abnormal knee morphology	132884	EVC2	ORPHA:289
HP:0034669	Abnormal knee morphology	132884	EVC2	OMIM:225500
HP:0034669	Abnormal knee morphology	9839	ZEB2	ORPHA:261552
HP:0034669	Abnormal knee morphology	9839	ZEB2	ORPHA:261537
HP:0034669	Abnormal knee morphology	4763	NF1	ORPHA:363700
HP:0034669	Abnormal knee morphology	4763	NF1	OMIM:162200
HP:0034669	Abnormal knee morphology	1311	COMP	OMIM:132400
HP:0034669	Abnormal knee morphology	1311	COMP	OMIM:177170
HP:0034669	Abnormal knee morphology	1311	COMP	ORPHA:93308
HP:0034669	Abnormal knee morphology	1311	COMP	ORPHA:750
HP:0034669	Abnormal knee morphology	2720	GLB1	OMIM:253010
HP:0034669	Abnormal knee morphology	1280	COL2A1	ORPHA:85198
HP:0034669	Abnormal knee morphology	1280	COL2A1	OMIM:184250
HP:0034669	Abnormal knee morphology	1280	COL2A1	OMIM:132450
HP:0034669	Abnormal knee morphology	1280	COL2A1	ORPHA:93315
HP:0034669	Abnormal knee morphology	1280	COL2A1	ORPHA:93316
HP:0034669	Abnormal knee morphology	1280	COL2A1	ORPHA:94068
HP:0034669	Abnormal knee morphology	3425	IDUA	OMIM:607016
HP:0034669	Abnormal knee morphology	374654	KIF7	OMIM:607131
HP:0034669	Abnormal knee morphology	374654	KIF7	ORPHA:166024
HP:0034669	Abnormal knee morphology	5376	PMP22	ORPHA:3115
HP:0034669	Abnormal knee morphology	4359	MPZ	ORPHA:3115
HP:0034669	Abnormal knee morphology	1588	CYP19A1	ORPHA:91
HP:0034669	Abnormal knee morphology	9653	HS2ST1	OMIM:619194
HP:0034669	Abnormal knee morphology	5251	PHEX	ORPHA:89936
HP:0034669	Abnormal knee morphology	5251	PHEX	OMIM:307800
HP:0034669	Abnormal knee morphology	3043	HBB	ORPHA:231214
HP:0034669	Abnormal knee morphology	3043	HBB	ORPHA:231226
HP:0034669	Abnormal knee morphology	6804	STX1A	ORPHA:904
HP:0034669	Abnormal knee morphology	7461	CLIP2	ORPHA:904
HP:0034669	Abnormal knee morphology	84277	DNAJC30	ORPHA:904
HP:0034669	Abnormal knee morphology	8468	FKBP6	ORPHA:904
HP:0034669	Abnormal knee morphology	5982	RFC2	ORPHA:904
HP:0034669	Abnormal knee morphology	2969	GTF2I	ORPHA:904
HP:0034669	Abnormal knee morphology	3984	LIMK1	ORPHA:904
HP:0034669	Abnormal knee morphology	9569	GTF2IRD1	ORPHA:904
HP:0034669	Abnormal knee morphology	155382	VPS37D	ORPHA:904
HP:0034669	Abnormal knee morphology	155368	METTL27	ORPHA:904
HP:0034669	Abnormal knee morphology	114049	BUD23	ORPHA:904
HP:0034669	Abnormal knee morphology	7458	EIF4H	ORPHA:904
HP:0034669	Abnormal knee morphology	84163	GTF2IRD2	ORPHA:904
HP:0034669	Abnormal knee morphology	26608	TBL2	ORPHA:904
HP:0034669	Abnormal knee morphology	653361	NCF1	ORPHA:904
HP:0034669	Abnormal knee morphology	135886	TMEM270	ORPHA:904
HP:0034669	Abnormal knee morphology	9031	BAZ1B	ORPHA:904
HP:0034669	Abnormal knee morphology	2006	ELN	ORPHA:904
HP:0034669	Abnormal knee morphology	5593	PRKG2	OMIM:619636
HP:0034669	Abnormal knee morphology	4952	OCRL	OMIM:309000
HP:0034669	Abnormal knee morphology	4952	OCRL	ORPHA:534
HP:0034669	Abnormal knee morphology	55027	HEATR3	OMIM:620072
HP:0034669	Abnormal knee morphology	26137	ZBTB20	OMIM:259050
HP:0034669	Abnormal knee morphology	54928	BPNT2	OMIM:614078
HP:0034669	Abnormal knee morphology	8838	CCN6	ORPHA:1159
HP:0034669	Abnormal knee morphology	23187	PHLDB1	OMIM:620639
HP:0034669	Abnormal knee morphology	6473	SHOX	ORPHA:314795
HP:0034669	Abnormal knee morphology	6473	SHOX	ORPHA:240
HP:0034669	Abnormal knee morphology	3835	KIF22	OMIM:603546
HP:0034669	Abnormal knee morphology	3835	KIF22	ORPHA:93360
HP:0034669	Abnormal knee morphology	7030	TFE3	OMIM:301066
HP:0034669	Abnormal knee morphology	23162	MAPK8IP3	OMIM:618443
HP:0034669	Abnormal knee morphology	9394	HS6ST1	OMIM:614880
HP:0034669	Abnormal knee morphology	23483	TGDS	OMIM:616145
HP:0034669	Abnormal knee morphology	3977	LIFR	ORPHA:3206
HP:0034669	Abnormal knee morphology	546	ATRX	OMIM:309580
HP:0034669	Abnormal knee morphology	5167	ENPP1	OMIM:613312
HP:0034669	Abnormal knee morphology	7994	KAT6A	OMIM:616268
HP:0034669	Abnormal knee morphology	3339	HSPG2	ORPHA:800
HP:0034669	Abnormal knee morphology	1186	CLCN7	ORPHA:53
HP:0034669	Abnormal knee morphology	2316	FLNA	OMIM:309350
HP:0034669	Abnormal knee morphology	2316	FLNA	OMIM:305620
HP:0034669	Abnormal knee morphology	1297	COL9A1	ORPHA:250984
HP:0034669	Abnormal knee morphology	1297	COL9A1	ORPHA:166002
HP:0034669	Abnormal knee morphology	1297	COL9A1	OMIM:614134
HP:0034669	Abnormal knee morphology	1298	COL9A2	ORPHA:250984
HP:0034669	Abnormal knee morphology	1298	COL9A2	ORPHA:166002
HP:0034669	Abnormal knee morphology	1299	COL9A3	ORPHA:250984
HP:0034669	Abnormal knee morphology	1299	COL9A3	ORPHA:166002
HP:0034669	Abnormal knee morphology	10664	CTCF	OMIM:615502
HP:0034669	Abnormal knee morphology	2200	FBN1	ORPHA:2462
HP:0034669	Abnormal knee morphology	6497	SKI	ORPHA:2462
HP:0034669	Abnormal knee morphology	6497	SKI	OMIM:182212
HP:0034669	Abnormal knee morphology	55081	IFT57	OMIM:617927
HP:0034669	Abnormal knee morphology	865	CBFB	OMIM:620099
HP:0034669	Abnormal knee morphology	54808	DYM	ORPHA:239
HP:0034669	Abnormal knee morphology	54808	DYM	OMIM:607326
HP:0034669	Abnormal knee morphology	54808	DYM	OMIM:223800
HP:0034669	Abnormal knee morphology	8600	TNFSF11	OMIM:259710
HP:0034669	Abnormal knee morphology	9361	LONP1	OMIM:600373
HP:0034669	Abnormal knee morphology	10466	COG5	ORPHA:263487
HP:0034669	Abnormal knee morphology	579	NKX3-2	OMIM:613330
HP:0034669	Abnormal knee morphology	26160	IFT172	OMIM:615630
HP:0034669	Abnormal knee morphology	2335	FN1	ORPHA:93315
HP:0034669	Abnormal knee morphology	23394	ADNP	OMIM:615873
HP:0034669	Abnormal knee morphology	79903	NAA60	OMIM:620786
HP:0034669	Abnormal knee morphology	100033413	SNORD116-1	OMIM:176270
HP:0034669	Abnormal knee morphology	8924	HERC2	OMIM:176270
HP:0034669	Abnormal knee morphology	23742	NPAP1	OMIM:176270
HP:0034669	Abnormal knee morphology	338433	SNORD115-1	OMIM:176270
HP:0034669	Abnormal knee morphology	54551	MAGEL2	OMIM:176270
HP:0034669	Abnormal knee morphology	7681	MKRN3	OMIM:176270
HP:0034669	Abnormal knee morphology	145624	PWAR1	OMIM:176270
HP:0034669	Abnormal knee morphology	3653	IPW	OMIM:176270
HP:0034669	Abnormal knee morphology	791114	PWRN1	OMIM:176270
HP:0034669	Abnormal knee morphology	4148	MATN3	ORPHA:93311
HP:0034669	Abnormal knee morphology	4148	MATN3	OMIM:607078
HP:0034669	Abnormal knee morphology	411	ARSB	OMIM:253200
HP:0034669	Abnormal knee morphology	59341	TRPV4	OMIM:156530
HP:0034669	Abnormal knee morphology	59341	TRPV4	OMIM:168400
HP:0034669	Abnormal knee morphology	59341	TRPV4	OMIM:184095
HP:0034669	Abnormal knee morphology	91179	SCARF2	OMIM:600920
HP:0034669	Abnormal knee morphology	8882	ZPR1	OMIM:619321
HP:0034669	Abnormal knee morphology	137682	NDUFAF6	OMIM:618913
HP:0034669	Abnormal knee morphology	55784	MCTP2	ORPHA:1596
HP:0034669	Abnormal knee morphology	64135	IFIH1	OMIM:182250
HP:0034669	Abnormal knee morphology	153642	ARSK	OMIM:619698
HP:0034669	Abnormal knee morphology	4998	ORC1	OMIM:224690
HP:0034669	Abnormal knee morphology	84068	SLC10A7	OMIM:618363
HP:0034669	Abnormal knee morphology	5604	MAP2K1	ORPHA:1340
HP:0034669	Abnormal knee morphology	5605	MAP2K2	ORPHA:1340
HP:0034669	Abnormal knee morphology	3845	KRAS	ORPHA:1340
HP:0034669	Abnormal knee morphology	673	BRAF	ORPHA:1340
HP:0034669	Abnormal knee morphology	11145	PLAAT3	OMIM:620683
HP:0034669	Abnormal knee morphology	23111	SPART	ORPHA:101000
HP:0034669	Abnormal knee morphology	1301	COL11A1	ORPHA:560
HP:0034669	Abnormal knee morphology	9451	EIF2AK3	OMIM:226980
HP:0034669	Abnormal knee morphology	860	RUNX2	ORPHA:1452
HP:0034669	Abnormal knee morphology	7476	WNT7A	OMIM:613005
HP:0034669	Abnormal knee morphology	3930	LBR	OMIM:618019
HP:0034669	Abnormal knee morphology	51715	RAB23	ORPHA:65759
HP:0034669	Abnormal knee morphology	51715	RAB23	OMIM:201000
HP:0034669	Abnormal knee morphology	1954	MEGF8	ORPHA:65759
HP:0034669	Abnormal knee morphology	1300	COL10A1	OMIM:156500
HP:0034669	Abnormal knee morphology	6424	SFRP4	OMIM:265900
HP:0034669	Abnormal knee morphology	10526	IPO8	OMIM:619472
HP:0034669	Abnormal knee morphology	6711	SPTBN1	OMIM:619475
HP:0034669	Abnormal knee morphology	2588	GALNS	OMIM:253000
HP:0034669	Abnormal knee morphology	80152	CENPT	OMIM:618702
HP:0034669	Abnormal knee morphology	4796	TONSL	ORPHA:93357
HP:0034669	Abnormal knee morphology	4796	TONSL	OMIM:271510
HP:0034669	Abnormal knee morphology	5184	PEPD	ORPHA:742
HP:0034669	Abnormal knee morphology	5885	RAD21	ORPHA:502
HP:0034669	Abnormal knee morphology	7227	TRPS1	ORPHA:502
HP:0034669	Abnormal knee morphology	374879	ZNF699	OMIM:619488
HP:0034669	Abnormal knee morphology	10651	MTX2	OMIM:619127
HP:0034669	Abnormal knee morphology	4322	MMP13	OMIM:250400
HP:0034669	Abnormal knee morphology	126792	B3GALT6	OMIM:271640
HP:0034669	Abnormal knee morphology	89970	RSPRY1	ORPHA:457395
HP:0034669	Abnormal knee morphology	2990	GUSB	OMIM:253220
HP:0034669	Abnormal knee morphology	8139	GAN	ORPHA:643
HP:0034669	Abnormal knee morphology	26229	B3GAT3	OMIM:245600
HP:0034669	Abnormal knee morphology	83452	RAB33B	OMIM:615222
HP:0034669	Abnormal knee morphology	80169	CTC1	OMIM:612199
HP:0034669	Abnormal knee morphology	25871	NEPRO	OMIM:618853
HP:0034669	Abnormal knee morphology	871	SERPINH1	OMIM:613848
HP:0034669	Abnormal knee morphology	1576	CYP3A4	OMIM:619073
HP:0034669	Abnormal knee morphology	5573	PRKAR1A	ORPHA:950
HP:0034669	Abnormal knee morphology	5144	PDE4D	ORPHA:950
HP:0034669	Abnormal knee morphology	65992	DDRGK1	OMIM:602557
HP:0034669	Abnormal knee morphology	65992	DDRGK1	ORPHA:93352
HP:0034669	Abnormal knee morphology	1594	CYP27B1	ORPHA:289157
HP:0034669	Abnormal knee morphology	120227	CYP2R1	ORPHA:289157
HP:0034669	Abnormal knee morphology	55325	UFSP2	OMIM:617974
HP:0034669	Abnormal knee morphology	9401	RECQL4	ORPHA:221016
HP:0034669	Abnormal knee morphology	11128	POLR3A	OMIM:264090
HP:0034669	Abnormal knee morphology	2261	FGFR3	ORPHA:429
HP:0034669	Abnormal knee morphology	2261	FGFR3	OMIM:146000
HP:0034669	Abnormal knee morphology	2261	FGFR3	OMIM:100800
HP:0034669	Abnormal knee morphology	9321	TRIP11	OMIM:184260
HP:0034669	Abnormal knee morphology	79631	EFL1	OMIM:617941
HP:0034669	Abnormal knee morphology	124583	CANT1	OMIM:251450
HP:0034669	Abnormal knee morphology	124583	CANT1	OMIM:617719
HP:0034669	Abnormal knee morphology	284403	WDR62	OMIM:604317
HP:0034669	Abnormal knee morphology	4318	MMP9	OMIM:613073
HP:0034669	Abnormal knee morphology	3549	IHH	ORPHA:63446
HP:0034669	Abnormal knee morphology	3549	IHH	OMIM:607778
HP:0034669	Abnormal knee morphology	1758	DMP1	ORPHA:289176
HP:0034669	Abnormal knee morphology	4052	LTBP1	OMIM:619451
HP:0034669	Abnormal knee morphology	6137	RPL13	OMIM:618728
HP:0034669	Abnormal knee morphology	64131	XYLT1	OMIM:615777
HP:0034669	Abnormal knee morphology	9675	TTI1	OMIM:620445
HP:0034669	Abnormal knee morphology	9939	RBM8A	ORPHA:3320
HP:0034669	Abnormal knee morphology	9939	RBM8A	OMIM:274000
HP:0034669	Abnormal knee morphology	3248	HPGD	ORPHA:2796
HP:0034669	Abnormal knee morphology	6578	SLCO2A1	ORPHA:2796
HP:0034669	Abnormal knee morphology	26123	TCTN3	ORPHA:2753
HP:0034669	Abnormal knee morphology	633	BGN	OMIM:300106
HP:0034669	Abnormal knee morphology	5442	POLRMT	OMIM:619743
HP:0034669	Abnormal knee morphology	23594	ORC6	OMIM:613803
HP:0034669	Abnormal knee morphology	6023	RMRP	OMIM:250460
HP:0034669	Abnormal knee morphology	64682	ANAPC1	ORPHA:221008
HP:0034669	Abnormal knee morphology	375	ARF1	ORPHA:98892
HP:0034669	Abnormal knee morphology	4131	MAP1B	ORPHA:98892
HP:0034669	Abnormal knee morphology	23327	NEDD4L	ORPHA:98892
HP:0034669	Abnormal knee morphology	160418	TMTC3	ORPHA:98892
HP:0034669	Abnormal knee morphology	10564	ARFGEF2	ORPHA:98892
HP:0034669	Abnormal knee morphology	55780	ERMARD	ORPHA:98892
HP:0034669	Abnormal knee morphology	50515	CHST11	OMIM:618167
HP:0034669	Abnormal knee morphology	2033	EP300	OMIM:180849
HP:0034669	Abnormal knee morphology	2033	EP300	ORPHA:353284
HP:0034669	Abnormal knee morphology	1387	CREBBP	OMIM:180849
HP:0034669	Abnormal knee morphology	1387	CREBBP	ORPHA:353277
HP:0034669	Abnormal knee morphology	1387	CREBBP	ORPHA:353281
HP:0034669	Abnormal knee morphology	23522	KAT6B	OMIM:606170
HP:0034669	Abnormal knee morphology	23522	KAT6B	OMIM:603736
HP:0034669	Abnormal knee morphology	7528	YY1	OMIM:617557
HP:0034669	Abnormal knee morphology	5290	PIK3CA	ORPHA:140944
HP:0034669	Abnormal knee morphology	91461	PKDCC	OMIM:618821
HP:0034669	Abnormal knee morphology	9496	TBX4	OMIM:147891
HP:0034669	Abnormal knee morphology	90459	ERI1	OMIM:620663
HP:0034669	Abnormal knee morphology	90459	ERI1	OMIM:620662
HP:0034669	Abnormal knee morphology	8200	GDF5	ORPHA:968
HP:0034669	Abnormal knee morphology	8200	GDF5	OMIM:228900
HP:0034669	Abnormal knee morphology	5351	PLOD1	ORPHA:1900
HP:0034669	Abnormal knee morphology	1312	COMT	ORPHA:567
HP:0034669	Abnormal knee morphology	221037	JMJD1C	ORPHA:567
HP:0034669	Abnormal knee morphology	2812	GP1BB	ORPHA:567
HP:0034669	Abnormal knee morphology	6239	RREB1	ORPHA:567
HP:0034669	Abnormal knee morphology	6899	TBX1	ORPHA:567
HP:0034669	Abnormal knee morphology	6899	TBX1	OMIM:188400
HP:0034669	Abnormal knee morphology	7290	HIRA	ORPHA:567
HP:0034669	Abnormal knee morphology	9632	SEC24C	ORPHA:567
HP:0034669	Abnormal knee morphology	7353	UFD1	ORPHA:567
HP:0034669	Abnormal knee morphology	421	ARVCF	ORPHA:567
HP:0034669	Abnormal knee morphology	2317	FLNB	ORPHA:56305
HP:0034669	Abnormal knee morphology	10682	EBP	OMIM:302960
HP:0034669	Abnormal knee morphology	10682	EBP	ORPHA:35173
HP:0034669	Abnormal knee morphology	1277	COL1A1	ORPHA:287
HP:0034669	Abnormal knee morphology	1289	COL5A1	ORPHA:287
HP:0034669	Abnormal knee morphology	1290	COL5A2	ORPHA:287
HP:0034669	Abnormal knee morphology	65267	WNK3	OMIM:309610
HP:0034669	Abnormal knee morphology	23233	EXOC6B	OMIM:618395
HP:0034669	Abnormal knee morphology	2535	FZD2	ORPHA:93328
HP:0034669	Abnormal knee morphology	6812	STXBP1	ORPHA:495818
HP:0034669	Abnormal knee morphology	4010	LMX1B	ORPHA:2614
HP:0034669	Abnormal knee morphology	57688	ZSWIM6	ORPHA:1827
HP:0034669	Abnormal knee morphology	57688	ZSWIM6	OMIM:603671
HP:0034669	Abnormal knee morphology	5307	PITX1	OMIM:119800
HP:0034669	Abnormal knee morphology	55148	UBR7	OMIM:619189
HP:0034669	Abnormal knee morphology	29980	DONSON	OMIM:617604
HP:0034669	Abnormal knee morphology	6662	SOX9	OMIM:114290
HP:0034669	Abnormal knee morphology	54496	PRMT7	ORPHA:464288
HP:0034669	Abnormal knee morphology	78987	CRELD1	OMIM:620771
HP:0034669	Abnormal knee morphology	10586	MAB21L2	OMIM:615877
HP:0034669	Abnormal knee morphology	6261	RYR1	ORPHA:178145
HP:0034669	Abnormal knee morphology	165	AEBP1	OMIM:618000
HP:0034669	Abnormal knee morphology	4088	SMAD3	ORPHA:284984
HP:0034669	Abnormal knee morphology	4088	SMAD3	OMIM:613795
HP:0034669	Abnormal knee morphology	6399	TRAPPC2	ORPHA:93284
HP:0034669	Abnormal knee morphology	6775	STAT4	ORPHA:85408
HP:0034669	Abnormal knee morphology	6775	STAT4	ORPHA:85410
HP:0034669	Abnormal knee morphology	3560	IL2RB	ORPHA:85408
HP:0034669	Abnormal knee morphology	3560	IL2RB	ORPHA:85410
HP:0034669	Abnormal knee morphology	79722	ANKRD55	ORPHA:85408
HP:0034669	Abnormal knee morphology	79722	ANKRD55	ORPHA:85410
HP:0034669	Abnormal knee morphology	26191	PTPN22	ORPHA:85408
HP:0034669	Abnormal knee morphology	26191	PTPN22	ORPHA:85410
HP:0034669	Abnormal knee morphology	919	CD247	ORPHA:85408
HP:0034669	Abnormal knee morphology	919	CD247	ORPHA:85410
HP:0034669	Abnormal knee morphology	3559	IL2RA	ORPHA:85408
HP:0034669	Abnormal knee morphology	3559	IL2RA	ORPHA:85410
HP:0034669	Abnormal knee morphology	5771	PTPN2	ORPHA:85408
HP:0034669	Abnormal knee morphology	5771	PTPN2	ORPHA:85410
HP:0034669	Abnormal knee morphology	4087	SMAD2	OMIM:619656
HP:0034669	Abnormal knee morphology	10216	PRG4	ORPHA:2848
HP:0034669	Abnormal knee morphology	11160	ERLIN2	ORPHA:280384
HP:0034669	Abnormal knee morphology	11160	ERLIN2	ORPHA:209951
HP:0034669	Abnormal knee morphology	4921	DDR2	OMIM:271665
HP:0034669	Abnormal knee morphology	23141	ANKLE2	OMIM:616681
HP:0034669	Abnormal knee morphology	8506	CNTNAP1	OMIM:616286
HP:0034669	Abnormal knee morphology	1756	DMD	OMIM:310200
HP:0034669	Abnormal knee morphology	170689	ADAMTS15	OMIM:620545
HP:0034669	Abnormal knee morphology	5352	PLOD2	OMIM:609220
HP:0034669	Abnormal knee morphology	6840	SVIL	OMIM:619040
HP:0034669	Abnormal knee morphology	3714	JAG2	OMIM:619566
HP:0034669	Abnormal knee morphology	51506	UFC1	OMIM:618076
HP:0034669	Abnormal knee morphology	4649	MYO9A	OMIM:618198
HP:0034669	Abnormal knee morphology	6616	SNAP25	OMIM:616330
HP:0034669	Abnormal knee morphology	2067	ERCC1	OMIM:610758
HP:0034669	Abnormal knee morphology	29925	GMPPB	ORPHA:353327
HP:0034669	Abnormal knee morphology	2673	GFPT1	ORPHA:353327
HP:0034669	Abnormal knee morphology	1798	DPAGT1	ORPHA:353327
HP:0034669	Abnormal knee morphology	85365	ALG2	ORPHA:353327
HP:0034669	Abnormal knee morphology	85365	ALG2	OMIM:616228
HP:0034669	Abnormal knee morphology	199857	ALG14	ORPHA:353327
HP:0034669	Abnormal knee morphology	79158	GNPTAB	ORPHA:576
HP:0034669	Abnormal knee morphology	79158	GNPTAB	OMIM:252600
HP:0034669	Abnormal knee morphology	2273	FHL1	OMIM:300695
HP:0034669	Abnormal knee morphology	4621	MYH3	OMIM:193700
HP:0034669	Abnormal knee morphology	4621	MYH3	OMIM:178110
HP:0034669	Abnormal knee morphology	23321	TRIM2	OMIM:615490
HP:0034669	Abnormal knee morphology	92255	LMBRD2	OMIM:619694
HP:0034669	Abnormal knee morphology	2010	EMD	OMIM:310300
HP:0034669	Abnormal knee morphology	29968	PSAT1	ORPHA:284417
HP:0034669	Abnormal knee morphology	57190	SELENON	ORPHA:2020
HP:0034669	Abnormal knee morphology	4633	MYL2	ORPHA:2020
HP:0034669	Abnormal knee morphology	3679	ITGA7	ORPHA:2020
HP:0034669	Abnormal knee morphology	9200	HACD1	ORPHA:2020
HP:0034669	Abnormal knee morphology	7170	TPM3	ORPHA:2020
HP:0034669	Abnormal knee morphology	51776	MAP3K20	ORPHA:2020
HP:0034669	Abnormal knee morphology	5297	PI4KA	OMIM:619621
HP:0034669	Abnormal knee morphology	5297	PI4KA	OMIM:616531
HP:0034669	Abnormal knee morphology	5297	PI4KA	OMIM:619708
HP:0034669	Abnormal knee morphology	84342	COG8	OMIM:611182
HP:0034669	Abnormal knee morphology	127833	SYT2	OMIM:619461
HP:0034669	Abnormal knee morphology	5277	PIGA	OMIM:300868
HP:0034669	Abnormal knee morphology	2783	GNB2	OMIM:619503
HP:0034669	Abnormal knee morphology	4632	MYL1	OMIM:618414
HP:0034669	Abnormal knee morphology	79644	SRD5A3	OMIM:612713
HP:0034669	Abnormal knee morphology	6811	STX5	OMIM:620454
HP:0034669	Abnormal knee morphology	9531	BAG3	OMIM:612954
HP:0034669	Abnormal knee morphology	6874	TAF4	OMIM:620450
HP:0034669	Abnormal knee morphology	2074	ERCC6	OMIM:214150
HP:0034669	Abnormal knee morphology	9051	PSTPIP1	OMIM:604416
HP:0034669	Abnormal knee morphology	10804	GJB6	ORPHA:477
HP:0034669	Abnormal knee morphology	2706	GJB2	ORPHA:477
HP:0034669	Abnormal knee morphology	2706	GJB2	OMIM:148210
HP:0034669	Abnormal knee morphology	9791	PTDSS1	OMIM:151050
HP:0034669	Abnormal knee morphology	63895	PIEZO2	OMIM:114300
HP:0034669	Abnormal knee morphology	29895	MYL11	OMIM:619110
HP:0034669	Abnormal knee morphology	9894	TELO2	ORPHA:488642
HP:0034669	Abnormal knee morphology	259232	NALCN	ORPHA:371364
HP:0034669	Abnormal knee morphology	259232	NALCN	OMIM:616266
HP:0034669	Abnormal knee morphology	285175	UNC80	ORPHA:371364
HP:0034669	Abnormal knee morphology	25914	RTTN	ORPHA:468631
HP:0034669	Abnormal knee morphology	157570	ESCO2	ORPHA:3103
HP:0034669	Abnormal knee morphology	157570	ESCO2	OMIM:268300
HP:0034669	Abnormal knee morphology	84992	PIGY	OMIM:616809
HP:0034669	Abnormal knee morphology	10613	ERLIN1	ORPHA:401785
HP:0034669	Abnormal knee morphology	6134	RPL10	ORPHA:435938
HP:0034669	Abnormal knee morphology	22978	NT5C2	ORPHA:320396
HP:0034669	Abnormal knee morphology	2222	FDFT1	OMIM:618156
HP:0034669	Abnormal knee morphology	83636	C19orf12	OMIM:615043
HP:0034669	Abnormal knee morphology	163175	LGI4	OMIM:617468
HP:0034669	Abnormal knee morphology	4773	NFATC2	OMIM:620232
HP:0034669	Abnormal knee morphology	1376	CPT2	OMIM:608836
HP:0034669	Abnormal knee morphology	5296	PIK3R2	OMIM:603387
HP:0034669	Abnormal knee morphology	23387	SIK3	OMIM:618162
HP:0034669	Abnormal knee morphology	23299	BICD2	OMIM:615290
HP:0034669	Abnormal knee morphology	8813	DPM1	OMIM:608799
HP:0034669	Abnormal knee morphology	8813	DPM1	ORPHA:79322
HP:0034669	Abnormal knee morphology	339855	KY	ORPHA:496689
HP:0034669	Abnormal knee morphology	6572	SLC18A3	OMIM:617239
HP:0034669	Abnormal knee morphology	6389	SDHA	ORPHA:3208
HP:0034669	Abnormal knee morphology	6390	SDHB	ORPHA:3208
HP:0034669	Abnormal knee morphology	6392	SDHD	ORPHA:3208
HP:0034669	Abnormal knee morphology	644096	SDHAF1	ORPHA:3208
HP:0034669	Abnormal knee morphology	7317	UBA1	ORPHA:1145
HP:0034669	Abnormal knee morphology	55681	SCYL2	ORPHA:1143
HP:0034669	Abnormal knee morphology	84570	COL25A1	ORPHA:1143
HP:0034669	Abnormal knee morphology	57222	ERGIC1	ORPHA:1143
HP:0034669	Abnormal knee morphology	64116	SLC39A8	ORPHA:468699
HP:0034669	Abnormal knee morphology	91137	SLC25A46	OMIM:619303
HP:0034669	Abnormal knee morphology	1140	CHRNB1	OMIM:616313
HP:0034669	Abnormal knee morphology	529	ATP6V1E1	OMIM:617402
HP:0034669	Abnormal knee morphology	8449	DHX16	OMIM:618733
HP:0034669	Abnormal knee morphology	2737	GLI3	ORPHA:93322
HP:0034669	Abnormal knee morphology	100151683	RNU4ATAC	OMIM:210710
HP:0034669	Abnormal knee morphology	727857	BHLHA9	ORPHA:3329
HP:0034669	Abnormal knee morphology	64327	LMBR1	ORPHA:988
HP:0034669	Abnormal knee morphology	64327	LMBR1	OMIM:135750
HP:0034669	Abnormal knee morphology	6469	SHH	ORPHA:988
HP:0034669	Abnormal knee morphology	81620	CDT1	ORPHA:2554
HP:0034669	Abnormal knee morphology	81620	CDT1	OMIM:613804
HP:0034669	Abnormal knee morphology	5000	ORC4	ORPHA:2554
HP:0034669	Abnormal knee morphology	5000	ORC4	OMIM:613800
HP:0034669	Abnormal knee morphology	990	CDC6	ORPHA:2554
HP:0034669	Abnormal knee morphology	990	CDC6	OMIM:613805
HP:0034669	Abnormal knee morphology	51053	GMNN	ORPHA:2554
HP:0034669	Abnormal knee morphology	51053	GMNN	OMIM:616835
HP:0034669	Abnormal knee morphology	1146	CHRNG	OMIM:265000
HP:0034669	Abnormal knee morphology	57492	ARID1B	OMIM:135900
HP:0034669	Abnormal knee morphology	8318	CDC45	OMIM:617063
HP:0034669	Abnormal knee morphology	60681	FKBP10	ORPHA:1149
HP:0034669	Abnormal knee morphology	1303	COL12A1	ORPHA:536516
HP:0034669	Abnormal knee morphology	8239	USP9X	ORPHA:480880
HP:0034669	Abnormal knee morphology	1788	DNMT3A	OMIM:615879
HP:0034669	Abnormal knee morphology	9131	AIFM1	ORPHA:83629
HP:0034669	Abnormal knee morphology	375056	MIA3	OMIM:619269
HP:0034669	Abnormal knee morphology	3373	HYAL1	OMIM:601492
HP:0034669	Abnormal knee morphology	114548	NLRP3	OMIM:607115
HP:0034669	Abnormal knee morphology	4000	LMNA	OMIM:181350
HP:0034669	Abnormal knee morphology	8443	GNPAT	OMIM:222765
HP:0034669	Abnormal knee morphology	1291	COL6A1	OMIM:158810
HP:0034669	Abnormal knee morphology	1293	COL6A3	OMIM:620728
HP:0034669	Abnormal knee morphology	1292	COL6A2	OMIM:620727
HP:0034669	Abnormal knee morphology	1292	COL6A2	OMIM:620725
HP:0034669	Abnormal knee morphology	2201	FBN2	OMIM:121050
HP:0034669	Abnormal knee morphology	84466	MEGF10	OMIM:620249
HP:0034669	Abnormal knee morphology	27145	FILIP1	OMIM:620775
HP:0034669	Abnormal knee morphology	6329	SCN4A	OMIM:620351
HP:0034669	Abnormal knee morphology	1353	COX11	OMIM:620275
HP:0041063	Chronic decreased circulating IgG2	917	CD3G	OMIM:615607
HP:0041070	Chronic partially decreased circulating IgG1	1380	CR2	OMIM:614699
HP:0002757	Recurrent fractures	8322	FZD4	OMIM:133780
HP:0002757	Recurrent fractures	4041	LRP5	OMIM:133780
HP:0002757	Recurrent fractures	4041	LRP5	OMIM:259770
HP:0002757	Recurrent fractures	4041	LRP5	OMIM:607634
HP:0002757	Recurrent fractures	875	CBS	ORPHA:394
HP:0002757	Recurrent fractures	7421	VDR	ORPHA:93160
HP:0002757	Recurrent fractures	7421	VDR	OMIM:277440
HP:0002757	Recurrent fractures	79879	CCDC134	OMIM:619795
HP:0002757	Recurrent fractures	10491	CRTAP	ORPHA:2050
HP:0002757	Recurrent fractures	10491	CRTAP	OMIM:610682
HP:0002757	Recurrent fractures	9871	SEC24D	ORPHA:2050
HP:0002757	Recurrent fractures	9871	SEC24D	OMIM:616294
HP:0002757	Recurrent fractures	5034	P4HB	ORPHA:2050
HP:0002757	Recurrent fractures	5034	P4HB	OMIM:112240
HP:0002757	Recurrent fractures	55503	TRPV6	OMIM:618188
HP:0002757	Recurrent fractures	55503	TRPV6	ORPHA:417
HP:0002757	Recurrent fractures	8518	ELP1	ORPHA:1764
HP:0002757	Recurrent fractures	2733	GLE1	ORPHA:1486
HP:0002757	Recurrent fractures	118429	ANTXR2	ORPHA:2176
HP:0002757	Recurrent fractures	9842	PLEKHM1	OMIM:618107
HP:0002757	Recurrent fractures	9842	PLEKHM1	ORPHA:210110
HP:0002757	Recurrent fractures	4803	NGF	OMIM:608654
HP:0002757	Recurrent fractures	1277	COL1A1	OMIM:259420
HP:0002757	Recurrent fractures	1277	COL1A1	OMIM:166210
HP:0002757	Recurrent fractures	1277	COL1A1	OMIM:166220
HP:0002757	Recurrent fractures	1277	COL1A1	OMIM:619115
HP:0002757	Recurrent fractures	1277	COL1A1	OMIM:166200
HP:0002757	Recurrent fractures	1278	COL1A2	OMIM:259420
HP:0002757	Recurrent fractures	1278	COL1A2	OMIM:166210
HP:0002757	Recurrent fractures	1278	COL1A2	OMIM:166220
HP:0002757	Recurrent fractures	1278	COL1A2	OMIM:619120
HP:0002757	Recurrent fractures	126792	B3GALT6	OMIM:609465
HP:0002757	Recurrent fractures	126792	B3GALT6	ORPHA:536467
HP:0002757	Recurrent fractures	10312	TCIRG1	ORPHA:667
HP:0002757	Recurrent fractures	10312	TCIRG1	ORPHA:210110
HP:0002757	Recurrent fractures	10312	TCIRG1	ORPHA:1782
HP:0002757	Recurrent fractures	1186	CLCN7	ORPHA:667
HP:0002757	Recurrent fractures	1186	CLCN7	ORPHA:210110
HP:0002757	Recurrent fractures	1186	CLCN7	OMIM:166600
HP:0002757	Recurrent fractures	1186	CLCN7	OMIM:611490
HP:0002757	Recurrent fractures	1186	CLCN7	ORPHA:53
HP:0002757	Recurrent fractures	29887	SNX10	ORPHA:667
HP:0002757	Recurrent fractures	8600	TNFSF11	ORPHA:667
HP:0002757	Recurrent fractures	8600	TNFSF11	OMIM:259710
HP:0002757	Recurrent fractures	6662	SOX9	ORPHA:140
HP:0002757	Recurrent fractures	1301	COL11A1	OMIM:604841
HP:0002757	Recurrent fractures	1184	CLCN5	OMIM:300009
HP:0002757	Recurrent fractures	1184	CLCN5	OMIM:300554
HP:0002757	Recurrent fractures	5176	SERPINF1	OMIM:613982
HP:0002757	Recurrent fractures	120227	CYP2R1	OMIM:600081
HP:0002757	Recurrent fractures	846	CASR	ORPHA:417
HP:0002757	Recurrent fractures	846	CASR	OMIM:239200
HP:0002757	Recurrent fractures	2304	FOXE1	ORPHA:319487
HP:0002757	Recurrent fractures	3026	HABP2	ORPHA:319487
HP:0002757	Recurrent fractures	9562	MINPP1	ORPHA:319487
HP:0002757	Recurrent fractures	4952	OCRL	ORPHA:534
HP:0002757	Recurrent fractures	64175	P3H1	OMIM:610915
HP:0002757	Recurrent fractures	55249	YY1AP1	OMIM:602531
HP:0002757	Recurrent fractures	4784	NFIX	OMIM:602535
HP:0002757	Recurrent fractures	4621	MYH3	OMIM:193700
HP:0002757	Recurrent fractures	10265	IRX5	OMIM:611174
HP:0002757	Recurrent fractures	6774	STAT3	ORPHA:2314
HP:0002757	Recurrent fractures	6774	STAT3	OMIM:147060
HP:0002757	Recurrent fractures	55603	TENT5A	OMIM:617952
HP:0002757	Recurrent fractures	90993	CREB3L1	OMIM:616229
HP:0002757	Recurrent fractures	92344	GORAB	OMIM:231070
HP:0002757	Recurrent fractures	92344	GORAB	ORPHA:2078
HP:0002757	Recurrent fractures	7841	MOGS	OMIM:606056
HP:0002757	Recurrent fractures	6678	SPARC	OMIM:616507
HP:0002757	Recurrent fractures	9056	SLC7A7	OMIM:222700
HP:0002757	Recurrent fractures	2778	GNAS	ORPHA:562
HP:0002757	Recurrent fractures	2778	GNAS	ORPHA:57782
HP:0002757	Recurrent fractures	4982	TNFRSF11B	OMIM:239000
HP:0002757	Recurrent fractures	4982	TNFRSF11B	ORPHA:2801
HP:0002757	Recurrent fractures	538	ATP7A	ORPHA:565
HP:0002757	Recurrent fractures	11107	PRDM5	OMIM:614170
HP:0002757	Recurrent fractures	1501	CTNND2	ORPHA:281
HP:0002757	Recurrent fractures	9037	SEMA5A	ORPHA:281
HP:0002757	Recurrent fractures	1594	CYP27B1	OMIM:264700
HP:0002757	Recurrent fractures	860	RUNX2	ORPHA:1452
HP:0002757	Recurrent fractures	649	BMP1	OMIM:614856
HP:0002757	Recurrent fractures	7471	WNT1	ORPHA:85193
HP:0002757	Recurrent fractures	7471	WNT1	OMIM:615220
HP:0002757	Recurrent fractures	22943	DKK1	ORPHA:85193
HP:0002757	Recurrent fractures	89780	WNT3A	ORPHA:85193
HP:0002757	Recurrent fractures	3418	IDH2	ORPHA:163634
HP:0002757	Recurrent fractures	3417	IDH1	ORPHA:163634
HP:0002757	Recurrent fractures	4853	NOTCH2	ORPHA:955
HP:0002757	Recurrent fractures	760	CA2	ORPHA:2785
HP:0002757	Recurrent fractures	6611	SMS	ORPHA:3063
HP:0002757	Recurrent fractures	6611	SMS	OMIM:309583
HP:0002757	Recurrent fractures	11285	B4GALT7	OMIM:130070
HP:0002757	Recurrent fractures	142680	SLC34A3	OMIM:241530
HP:0002757	Recurrent fractures	249	ALPL	OMIM:146300
HP:0002757	Recurrent fractures	5352	PLOD2	ORPHA:2771
HP:0002757	Recurrent fractures	60681	FKBP10	ORPHA:2771
HP:0002757	Recurrent fractures	60681	FKBP10	OMIM:610968
HP:0002757	Recurrent fractures	4893	NRAS	OMIM:163200
HP:0002757	Recurrent fractures	3845	KRAS	OMIM:163200
HP:0002757	Recurrent fractures	3265	HRAS	OMIM:163200
HP:0002757	Recurrent fractures	51360	MBTPS2	OMIM:301014
HP:0002757	Recurrent fractures	9276	COPB2	OMIM:619884
HP:0002757	Recurrent fractures	5159	PDGFRB	OMIM:601812
HP:0002757	Recurrent fractures	23187	PHLDB1	OMIM:620639
HP:0002757	Recurrent fractures	8792	TNFRSF11A	ORPHA:2801
HP:0002757	Recurrent fractures	8792	TNFRSF11A	ORPHA:1782
HP:0002757	Recurrent fractures	6569	SLC34A1	OMIM:613388
HP:0002757	Recurrent fractures	3930	LBR	OMIM:215140
HP:0002757	Recurrent fractures	55898	UNC45A	OMIM:619377
HP:0002757	Recurrent fractures	11014	KDELR2	OMIM:619131
HP:0002757	Recurrent fractures	50484	RRM2B	OMIM:268315
HP:0002757	Recurrent fractures	8218	CLTCL1	ORPHA:453510
HP:0002757	Recurrent fractures	3977	LIFR	ORPHA:3206
HP:0002757	Recurrent fractures	55315	SLC29A3	ORPHA:1782
HP:0002757	Recurrent fractures	55315	SLC29A3	ORPHA:168569
HP:0002757	Recurrent fractures	7415	VCP	ORPHA:329475
HP:0002757	Recurrent fractures	5831	PYCR1	ORPHA:2078
HP:0002757	Recurrent fractures	25913	POT1	OMIM:620368
HP:0002757	Recurrent fractures	5479	PPIB	OMIM:259440
HP:0002757	Recurrent fractures	9321	TRIP11	ORPHA:93299
HP:0002757	Recurrent fractures	166929	SGMS2	OMIM:126550
HP:0002757	Recurrent fractures	387733	IFITM5	OMIM:610967
HP:0002757	Recurrent fractures	203859	ANO5	ORPHA:53697
HP:0002757	Recurrent fractures	9469	CHST3	OMIM:245600
HP:0002757	Recurrent fractures	26229	B3GAT3	OMIM:245600
HP:0002757	Recurrent fractures	55151	TMEM38B	OMIM:615066
HP:0002757	Recurrent fractures	80169	CTC1	ORPHA:1775
HP:0002757	Recurrent fractures	26277	TINF2	ORPHA:1775
HP:0002757	Recurrent fractures	55651	NHP2	ORPHA:1775
HP:0002757	Recurrent fractures	79650	USB1	ORPHA:1775
HP:0002757	Recurrent fractures	55135	WRAP53	ORPHA:1775
HP:0002757	Recurrent fractures	51750	RTEL1	ORPHA:1775
HP:0002757	Recurrent fractures	4869	NPM1	ORPHA:1775
HP:0002757	Recurrent fractures	7012	TERC	ORPHA:1775
HP:0002757	Recurrent fractures	55505	NOP10	ORPHA:1775
HP:0002757	Recurrent fractures	5073	PARN	ORPHA:1775
HP:0002757	Recurrent fractures	7015	TERT	ORPHA:1775
HP:0002757	Recurrent fractures	1736	DKC1	ORPHA:1775
HP:0002757	Recurrent fractures	7298	TYMS	ORPHA:1775
HP:0002757	Recurrent fractures	57592	ZNF687	OMIM:616833
HP:0002757	Recurrent fractures	121340	SP7	OMIM:613849
HP:0002757	Recurrent fractures	2260	FGFR1	ORPHA:478
HP:0002757	Recurrent fractures	10371	SEMA3A	ORPHA:478
HP:0002757	Recurrent fractures	81848	SPRY4	ORPHA:478
HP:0002757	Recurrent fractures	23767	FLRT3	ORPHA:478
HP:0002757	Recurrent fractures	128674	PROKR2	ORPHA:478
HP:0002757	Recurrent fractures	79625	NDNF	ORPHA:478
HP:0002757	Recurrent fractures	2253	FGF8	ORPHA:478
HP:0002757	Recurrent fractures	389549	FEZF1	ORPHA:478
HP:0002757	Recurrent fractures	1630	DCC	ORPHA:478
HP:0002757	Recurrent fractures	3730	ANOS1	ORPHA:478
HP:0002757	Recurrent fractures	54756	IL17RD	ORPHA:478
HP:0002757	Recurrent fractures	6663	SOX10	ORPHA:478
HP:0002757	Recurrent fractures	285025	CCDC141	ORPHA:478
HP:0002757	Recurrent fractures	60675	PROK2	ORPHA:478
HP:0002757	Recurrent fractures	55636	CHD7	ORPHA:478
HP:0002757	Recurrent fractures	1848	DUSP6	ORPHA:478
HP:0002757	Recurrent fractures	6870	TACR3	ORPHA:478
HP:0002757	Recurrent fractures	55717	WDR11	ORPHA:478
HP:0002757	Recurrent fractures	9394	HS6ST1	ORPHA:478
HP:0002757	Recurrent fractures	8820	HESX1	ORPHA:478
HP:0002757	Recurrent fractures	8822	FGF17	ORPHA:478
HP:0002757	Recurrent fractures	84181	CHD6	ORPHA:2108
HP:0002757	Recurrent fractures	5728	PTEN	ORPHA:137608
HP:0002757	Recurrent fractures	6904	TBCD	ORPHA:496641
HP:0002757	Recurrent fractures	8878	SQSTM1	OMIM:167250
HP:0002757	Recurrent fractures	4507	MTAP	OMIM:112250
HP:0002661	Painless fractures due to injury	85446	ZFHX2	OMIM:147430
HP:0002661	Painless fractures due to injury	4803	NGF	ORPHA:64752
HP:0002661	Painless fractures due to injury	4803	NGF	OMIM:608654
HP:0002661	Painless fractures due to injury	4914	NTRK1	ORPHA:64752
HP:0002661	Painless fractures due to injury	4914	NTRK1	ORPHA:642
HP:0002661	Painless fractures due to injury	4358	MPV17	OMIM:256810
HP:0002661	Painless fractures due to injury	65125	WNK1	OMIM:201300
HP:0002661	Painless fractures due to injury	54463	RETREG1	OMIM:201300
HP:0002661	Painless fractures due to injury	6335	SCN9A	OMIM:201300
HP:0002661	Painless fractures due to injury	6335	SCN9A	OMIM:243000
HP:0002661	Painless fractures due to injury	547	KIF1A	OMIM:201300
HP:0002664	Neoplasm	6654	SOS1	OMIM:135300
HP:0002664	Neoplasm	6654	SOS1	ORPHA:2024
HP:0002664	Neoplasm	1718	DHCR24	OMIM:602398
HP:0002664	Neoplasm	118429	ANTXR2	OMIM:228600
HP:0002664	Neoplasm	118429	ANTXR2	ORPHA:2028
HP:0002664	Neoplasm	23461	ABCA5	OMIM:135400
HP:0002664	Neoplasm	23461	ABCA5	ORPHA:2026
HP:0002664	Neoplasm	54757	FAM20A	OMIM:204690
HP:0002664	Neoplasm	3756	KCNH1	OMIM:135500
HP:0002664	Neoplasm	3756	KCNH1	ORPHA:3473
HP:0002664	Neoplasm	63916	ELMO2	ORPHA:3019
HP:0002664	Neoplasm	526	ATP6V1B2	ORPHA:3473
HP:0002664	Neoplasm	3782	KCNN3	ORPHA:3473
HP:0002664	Neoplasm	56975	FAM20C	ORPHA:1832
HP:0002664	Neoplasm	9897	WASHC5	ORPHA:7
HP:0002664	Neoplasm	28952	CCDC22	ORPHA:7
HP:0002664	Neoplasm	57020	VPS35L	ORPHA:7
HP:0002664	Neoplasm	56896	DPYSL5	ORPHA:7
HP:0002664	Neoplasm	5500	PPP1CB	OMIM:617506
HP:0002664	Neoplasm	79644	SRD5A3	OMIM:612713
HP:0002664	Neoplasm	246329	STAC3	ORPHA:168572
HP:0002664	Neoplasm	84181	CHD6	ORPHA:2108
HP:0002664	Neoplasm	1717	DHCR7	OMIM:270400
HP:0002664	Neoplasm	1717	DHCR7	ORPHA:818
HP:0002664	Neoplasm	80036	TRPM3	OMIM:620224
HP:0002664	Neoplasm	9939	RBM8A	OMIM:274000
HP:0002664	Neoplasm	4558	MT-TF	ORPHA:551
HP:0002664	Neoplasm	4567	MT-TL1	ORPHA:551
HP:0002664	Neoplasm	4549	MT-RNR1	ORPHA:551
HP:0002664	Neoplasm	4574	MT-TS1	ORPHA:551
HP:0002664	Neoplasm	4575	MT-TS2	ORPHA:551
HP:0002664	Neoplasm	4571	MT-TP	ORPHA:551
HP:0002664	Neoplasm	4572	MT-TQ	ORPHA:551
HP:0002664	Neoplasm	4540	MT-ND5	ORPHA:551
HP:0002664	Neoplasm	4566	MT-TK	ORPHA:551
HP:0002664	Neoplasm	4566	MT-TK	ORPHA:1349
HP:0002664	Neoplasm	4564	MT-TH	ORPHA:551
HP:0002664	Neoplasm	55154	MSTO1	OMIM:617675
HP:0002664	Neoplasm	9927	MFN2	OMIM:151800
HP:0002664	Neoplasm	9927	MFN2	ORPHA:2398
HP:0002664	Neoplasm	6347	CCL2	OMIM:182940
HP:0002664	Neoplasm	81839	VANGL1	OMIM:182940
HP:0002664	Neoplasm	80199	FUZ	OMIM:182940
HP:0002664	Neoplasm	6862	TBXT	OMIM:182940
HP:0002664	Neoplasm	57216	VANGL2	OMIM:182940
HP:0002664	Neoplasm	1175	AP2S1	OMIM:600740
HP:0002664	Neoplasm	5167	ENPP1	ORPHA:758
HP:0002664	Neoplasm	368	ABCC6	ORPHA:758
HP:0002664	Neoplasm	23592	LEMD3	ORPHA:1879
HP:0002664	Neoplasm	8036	SHOC2	OMIM:607721
HP:0002664	Neoplasm	23013	SPEN	OMIM:619312
HP:0002664	Neoplasm	8367	H4C5	OMIM:619950
HP:0002664	Neoplasm	23135	KDM6B	OMIM:618505
HP:0002664	Neoplasm	5605	MAP2K2	OMIM:615280
HP:0002664	Neoplasm	11235	PDCD10	ORPHA:221061
HP:0002664	Neoplasm	83605	CCM2	ORPHA:221061
HP:0002664	Neoplasm	889	KRIT1	ORPHA:221061
HP:0002664	Neoplasm	2050	EPHB4	ORPHA:137667
HP:0002664	Neoplasm	5476	CTSA	OMIM:256540
HP:0002664	Neoplasm	28514	DLL1	ORPHA:280200
HP:0002664	Neoplasm	2253	FGF8	ORPHA:280200
HP:0002664	Neoplasm	6496	SIX3	ORPHA:280200
HP:0002664	Neoplasm	7050	TGIF1	ORPHA:280200
HP:0002664	Neoplasm	4838	NODAL	ORPHA:280200
HP:0002664	Neoplasm	6469	SHH	ORPHA:280200
HP:0002664	Neoplasm	7546	ZIC2	ORPHA:280200
HP:0002664	Neoplasm	2619	GAS1	ORPHA:280200
HP:0002664	Neoplasm	84976	DISP1	ORPHA:280200
HP:0002664	Neoplasm	2736	GLI2	ORPHA:280200
HP:0002664	Neoplasm	8928	FOXH1	ORPHA:280200
HP:0002664	Neoplasm	6997	CRIPTO	ORPHA:280200
HP:0002664	Neoplasm	50937	CDON	ORPHA:280200
HP:0002664	Neoplasm	8813	DPM1	OMIM:608799
HP:0002664	Neoplasm	10082	GPC6	OMIM:258315
HP:0002664	Neoplasm	340665	CYP26C1	ORPHA:398189
HP:0002664	Neoplasm	23219	FBXO28	OMIM:619777
HP:0002664	Neoplasm	55109	AGGF1	ORPHA:90308
HP:0002664	Neoplasm	55901	THSD1	OMIM:620244
HP:0002664	Neoplasm	10943	MSL3	OMIM:301032
HP:0002664	Neoplasm	10815	CPLX1	ORPHA:280
HP:0002664	Neoplasm	10815	CPLX1	OMIM:194190
HP:0002664	Neoplasm	54872	PIGG	ORPHA:280
HP:0002664	Neoplasm	7469	NELFA	ORPHA:280
HP:0002664	Neoplasm	1487	CTBP1	ORPHA:280
HP:0002664	Neoplasm	1487	CTBP1	OMIM:194190
HP:0002664	Neoplasm	3954	LETM1	ORPHA:280
HP:0002664	Neoplasm	3954	LETM1	OMIM:194190
HP:0002664	Neoplasm	7468	NSD2	ORPHA:280
HP:0002664	Neoplasm	7468	NSD2	OMIM:194190
HP:0002664	Neoplasm	2475	MTOR	ORPHA:457485
HP:0002664	Neoplasm	84168	ANTXR1	ORPHA:2067
HP:0002664	Neoplasm	53834	FGFRL1	OMIM:194190
HP:0002664	Neoplasm	78987	CRELD1	OMIM:620771
HP:0002664	Neoplasm	4221	MEN1	OMIM:131100
HP:0002664	Neoplasm	7010	TEK	ORPHA:1059
HP:0002664	Neoplasm	4851	NOTCH1	OMIM:616028
HP:0002664	Neoplasm	26834	RNU4-2	OMIM:620851
HP:0002664	Neoplasm	79158	GNPTAB	OMIM:252500
HP:0002664	Neoplasm	274	BIN1	ORPHA:169189
HP:0002664	Neoplasm	64419	MTMR14	ORPHA:169189
HP:0002664	Neoplasm	4618	MYF6	ORPHA:169189
HP:0002664	Neoplasm	1785	DNM2	ORPHA:169189
HP:0002664	Neoplasm	6261	RYR1	ORPHA:169189
HP:0002664	Neoplasm	3239	HOXD13	ORPHA:887
HP:0002664	Neoplasm	6711	SPTBN1	OMIM:619475
HP:0002664	Neoplasm	4035	LRP1	ORPHA:79100
HP:0002664	Neoplasm	2535	FZD2	OMIM:164745
HP:0002664	Neoplasm	22800	RRAS2	OMIM:618624
HP:0002664	Neoplasm	1836	SLC26A2	OMIM:222600
HP:0002664	Neoplasm	6909	TBX2	OMIM:618223
HP:0002664	Neoplasm	435	ASL	ORPHA:23
HP:0002664	Neoplasm	5265	SERPINA1	OMIM:613490
HP:0002664	Neoplasm	5265	SERPINA1	ORPHA:60
HP:0002664	Neoplasm	3043	HBB	ORPHA:231214
HP:0002664	Neoplasm	3043	HBB	ORPHA:231222
HP:0002664	Neoplasm	3043	HBB	ORPHA:231226
HP:0002664	Neoplasm	83932	SPRTN	OMIM:616200
HP:0002664	Neoplasm	9414	TJP2	OMIM:615878
HP:0002664	Neoplasm	2153	F5	OMIM:600880
HP:0002664	Neoplasm	3594	IL12RB1	ORPHA:186
HP:0002664	Neoplasm	23534	TNPO3	ORPHA:186
HP:0002664	Neoplasm	3592	IL12A	ORPHA:186
HP:0002664	Neoplasm	6689	SPIB	ORPHA:186
HP:0002664	Neoplasm	5450	POU2AF1	ORPHA:186
HP:0002664	Neoplasm	9966	TNFSF15	ORPHA:186
HP:0002664	Neoplasm	79258	MMEL1	ORPHA:186
HP:0002664	Neoplasm	3663	IRF5	ORPHA:186
HP:0002664	Neoplasm	182	JAG1	OMIM:118450
HP:0002664	Neoplasm	6514	SLC2A2	ORPHA:2088
HP:0002664	Neoplasm	3145	HMBS	OMIM:176000
HP:0002664	Neoplasm	3145	HMBS	ORPHA:79276
HP:0002664	Neoplasm	540	ATP7B	OMIM:277900
HP:0002664	Neoplasm	10165	SLC25A13	OMIM:603471
HP:0002664	Neoplasm	10165	SLC25A13	ORPHA:247585
HP:0002664	Neoplasm	8647	ABCB11	OMIM:601847
HP:0002664	Neoplasm	2859	GPR35	ORPHA:171
HP:0002664	Neoplasm	10507	SEMA4D	ORPHA:171
HP:0002664	Neoplasm	4485	MST1	ORPHA:171
HP:0002664	Neoplasm	2538	G6PC1	OMIM:232200
HP:0002664	Neoplasm	4358	MPV17	OMIM:256810
HP:0002664	Neoplasm	654	BMP6	ORPHA:465508
HP:0002664	Neoplasm	3077	HFE	ORPHA:465508
HP:0002664	Neoplasm	3077	HFE	OMIM:235200
HP:0002664	Neoplasm	5257	PHKB	ORPHA:79240
HP:0002664	Neoplasm	2184	FAH	OMIM:276700
HP:0002664	Neoplasm	2184	FAH	ORPHA:882
HP:0002664	Neoplasm	5836	PYGL	ORPHA:369
HP:0002664	Neoplasm	191	AHCY	ORPHA:88618
HP:0002664	Neoplasm	4233	MET	OMIM:114550
HP:0002664	Neoplasm	8312	AXIN1	OMIM:114550
HP:0002664	Neoplasm	3482	IGF2R	OMIM:114550
HP:0002664	Neoplasm	55340	GIMAP5	OMIM:619463
HP:0002664	Neoplasm	7289	TULP3	OMIM:619902
HP:0002664	Neoplasm	1371	CPOX	ORPHA:79273
HP:0002664	Neoplasm	7389	UROD	OMIM:176100
HP:0002664	Neoplasm	5498	PPOX	ORPHA:79473
HP:0002664	Neoplasm	650	BMP2	OMIM:235200
HP:0002664	Neoplasm	8294	H4C9	OMIM:619951
HP:0002664	Neoplasm	6335	SCN9A	ORPHA:90026
HP:0002664	Neoplasm	11280	SCN11A	ORPHA:90026
HP:0002664	Neoplasm	6336	SCN10A	ORPHA:90026
HP:0002664	Neoplasm	2065	ERBB3	OMIM:133180
HP:0002664	Neoplasm	10312	TCIRG1	ORPHA:486
HP:0002664	Neoplasm	6728	SRP19	ORPHA:486
HP:0002664	Neoplasm	1991	ELANE	ORPHA:486
HP:0002664	Neoplasm	2672	GFI1	ORPHA:486
HP:0002664	Neoplasm	81570	CLPB	ORPHA:486
HP:0002664	Neoplasm	4615	MYD88	ORPHA:33226
HP:0002664	Neoplasm	4615	MYD88	OMIM:153600
HP:0002664	Neoplasm	2624	GATA2	OMIM:614038
HP:0002664	Neoplasm	3832	KIF11	ORPHA:2526
HP:0002664	Neoplasm	134218	DNAJC21	ORPHA:811
HP:0002664	Neoplasm	79631	EFL1	ORPHA:811
HP:0002664	Neoplasm	51119	SBDS	ORPHA:811
HP:0002664	Neoplasm	63895	PIEZO2	OMIM:248700
HP:0002664	Neoplasm	8481	OFD1	OMIM:311200
HP:0002664	Neoplasm	8481	OFD1	ORPHA:2754
HP:0002664	Neoplasm	64601	VPS16	OMIM:619291
HP:0002664	Neoplasm	4990	SIX6	OMIM:206900
HP:0002664	Neoplasm	6657	SOX2	OMIM:206900
HP:0002664	Neoplasm	4123	MAN2C1	OMIM:619775
HP:0002664	Neoplasm	65250	CPLANE1	OMIM:277170
HP:0002664	Neoplasm	65250	CPLANE1	ORPHA:2754
HP:0002664	Neoplasm	7074	TIAM1	OMIM:619908
HP:0002664	Neoplasm	79583	TMEM231	ORPHA:2754
HP:0002664	Neoplasm	10210	TOPORS	ORPHA:2754
HP:0002664	Neoplasm	9851	KIAA0753	ORPHA:2754
HP:0002664	Neoplasm	5147	PDE6D	ORPHA:2754
HP:0002664	Neoplasm	51259	TMEM216	ORPHA:2754
HP:0002664	Neoplasm	317662	FAM149B1	ORPHA:2754
HP:0002664	Neoplasm	374654	KIF7	ORPHA:2754
HP:0002664	Neoplasm	5566	PRKACA	ORPHA:289
HP:0002664	Neoplasm	5567	PRKACB	ORPHA:289
HP:0002664	Neoplasm	2735	GLI1	ORPHA:289
HP:0002664	Neoplasm	2121	EVC	ORPHA:289
HP:0002664	Neoplasm	132884	EVC2	ORPHA:289
HP:0002664	Neoplasm	412	STS	ORPHA:281090
HP:0002664	Neoplasm	7305	TYROBP	ORPHA:2770
HP:0002664	Neoplasm	9487	PIGL	ORPHA:3474
HP:0002664	Neoplasm	1763	DNA2	OMIM:620819
HP:0002664	Neoplasm	55654	TMEM127	OMIM:171300
HP:0002664	Neoplasm	4149	MAX	OMIM:171300
HP:0002664	Neoplasm	5979	RET	OMIM:171300
HP:0002664	Neoplasm	7428	VHL	OMIM:171300
HP:0002664	Neoplasm	2186	BPTF	OMIM:148000
HP:0002664	Neoplasm	3569	IL6	OMIM:148000
HP:0002664	Neoplasm	2778	GNAS	OMIM:219080
HP:0002664	Neoplasm	64324	NSD1	ORPHA:821
HP:0002664	Neoplasm	10297	APC2	ORPHA:821
HP:0002664	Neoplasm	1387	CREBBP	ORPHA:353281
HP:0002664	Neoplasm	1387	CREBBP	OMIM:180849
HP:0002664	Neoplasm	613	BCR	ORPHA:261330
HP:0002664	Neoplasm	1399	CRKL	ORPHA:261330
HP:0002664	Neoplasm	5594	MAPK1	ORPHA:261330
HP:0002664	Neoplasm	672	BRCA1	ORPHA:168829
HP:0002664	Neoplasm	672	BRCA1	ORPHA:84
HP:0002664	Neoplasm	5978	REST	ORPHA:654
HP:0002664	Neoplasm	129563	DIS3L2	ORPHA:654
HP:0002664	Neoplasm	675	BRCA2	ORPHA:654
HP:0002664	Neoplasm	675	BRCA2	ORPHA:84
HP:0002664	Neoplasm	9319	TRIP13	ORPHA:654
HP:0002664	Neoplasm	9319	TRIP13	ORPHA:1052
HP:0002664	Neoplasm	7490	WT1	ORPHA:654
HP:0002664	Neoplasm	10155	TRIM28	ORPHA:654
HP:0002664	Neoplasm	11281	POU6F2	ORPHA:654
HP:0002664	Neoplasm	2719	GPC3	ORPHA:654
HP:0002664	Neoplasm	2719	GPC3	ORPHA:373
HP:0002664	Neoplasm	283120	H19	ORPHA:654
HP:0002664	Neoplasm	2074	ERCC6	OMIM:600630
HP:0002664	Neoplasm	5745	PTH1R	ORPHA:296
HP:0002664	Neoplasm	3418	IDH2	ORPHA:296
HP:0002664	Neoplasm	3417	IDH1	ORPHA:296
HP:0002664	Neoplasm	115650	TNFRSF13C	OMIM:240500
HP:0002664	Neoplasm	29851	ICOS	OMIM:240500
HP:0002664	Neoplasm	930	CD19	OMIM:240500
HP:0002664	Neoplasm	23495	TNFRSF13B	OMIM:240500
HP:0002664	Neoplasm	1380	CR2	OMIM:240500
HP:0002664	Neoplasm	4210	MEFV	ORPHA:3243
HP:0002664	Neoplasm	5777	PTPN6	ORPHA:3243
HP:0002664	Neoplasm	10459	MAD2L2	ORPHA:84
HP:0002664	Neoplasm	7516	XRCC2	ORPHA:84
HP:0002664	Neoplasm	29089	UBE2T	ORPHA:84
HP:0002664	Neoplasm	55120	FANCL	ORPHA:84
HP:0002664	Neoplasm	2177	FANCD2	ORPHA:84
HP:0002664	Neoplasm	2175	FANCA	ORPHA:84
HP:0002664	Neoplasm	2187	FANCB	ORPHA:84
HP:0002664	Neoplasm	2176	FANCC	ORPHA:84
HP:0002664	Neoplasm	2178	FANCE	ORPHA:84
HP:0002664	Neoplasm	2188	FANCF	ORPHA:84
HP:0002664	Neoplasm	2189	FANCG	ORPHA:84
HP:0002664	Neoplasm	5888	RAD51	ORPHA:84
HP:0002664	Neoplasm	5889	RAD51C	ORPHA:84
HP:0002664	Neoplasm	55159	RFWD3	ORPHA:84
HP:0002664	Neoplasm	83990	BRIP1	ORPHA:84
HP:0002664	Neoplasm	57697	FANCM	ORPHA:84
HP:0002664	Neoplasm	79728	PALB2	ORPHA:84
HP:0002664	Neoplasm	84464	SLX4	ORPHA:84
HP:0002664	Neoplasm	2072	ERCC4	ORPHA:84
HP:0002664	Neoplasm	2072	ERCC4	ORPHA:910
HP:0002664	Neoplasm	55215	FANCI	ORPHA:84
HP:0002664	Neoplasm	1565	CYP2D6	OMIM:608902
HP:0002664	Neoplasm	10483	SEC23B	ORPHA:201
HP:0002664	Neoplasm	5728	PTEN	ORPHA:201
HP:0002664	Neoplasm	5728	PTEN	ORPHA:109
HP:0002664	Neoplasm	6390	SDHB	ORPHA:201
HP:0002664	Neoplasm	6392	SDHD	ORPHA:201
HP:0002664	Neoplasm	6391	SDHC	ORPHA:201
HP:0002664	Neoplasm	207	AKT1	ORPHA:201
HP:0002664	Neoplasm	207	AKT1	ORPHA:744
HP:0002664	Neoplasm	205717	USF3	ORPHA:201
HP:0002664	Neoplasm	5290	PIK3CA	ORPHA:201
HP:0002664	Neoplasm	5290	PIK3CA	ORPHA:60040
HP:0002664	Neoplasm	100144748	KLLN	ORPHA:201
HP:0002664	Neoplasm	367	AR	OMIM:300068
HP:0002664	Neoplasm	9184	BUB3	ORPHA:1052
HP:0002664	Neoplasm	699	BUB1	ORPHA:1052
HP:0002664	Neoplasm	9702	CEP57	ORPHA:1052
HP:0002664	Neoplasm	701	BUB1B	ORPHA:1052
HP:0002664	Neoplasm	4771	NF2	ORPHA:93921
HP:0002664	Neoplasm	6598	SMARCB1	ORPHA:93921
HP:0002664	Neoplasm	51004	COQ6	ORPHA:93921
HP:0002664	Neoplasm	8216	LZTR1	ORPHA:93921
HP:0002664	Neoplasm	2071	ERCC3	OMIM:610651
HP:0002664	Neoplasm	2071	ERCC3	ORPHA:910
HP:0002664	Neoplasm	3981	LIG4	ORPHA:235
HP:0002664	Neoplasm	54888	NSUN2	ORPHA:235
HP:0002664	Neoplasm	7157	TP53	ORPHA:2807
HP:0002664	Neoplasm	7157	TP53	ORPHA:524
HP:0002664	Neoplasm	2033	EP300	OMIM:180849
HP:0002664	Neoplasm	8239	USP9X	ORPHA:480880
HP:0002664	Neoplasm	7454	WAS	ORPHA:906
HP:0002664	Neoplasm	7456	WIPF1	ORPHA:906
HP:0002664	Neoplasm	7486	WRN	ORPHA:902
HP:0002664	Neoplasm	79092	CARD14	ORPHA:2897
HP:0002664	Neoplasm	472	ATM	ORPHA:100
HP:0002664	Neoplasm	54949	SDHAF2	OMIM:601650
HP:0002664	Neoplasm	2261	FGFR3	OMIM:603956
HP:0002664	Neoplasm	4665	NAB2	ORPHA:2126
HP:0002664	Neoplasm	6778	STAT6	ORPHA:2126
HP:0002664	Neoplasm	695	BTK	ORPHA:47
HP:0002664	Neoplasm	5727	PTCH1	ORPHA:377
HP:0002664	Neoplasm	8643	PTCH2	ORPHA:377
HP:0002664	Neoplasm	51684	SUFU	ORPHA:377
HP:0002664	Neoplasm	590	BCHE	ORPHA:132
HP:0002664	Neoplasm	2239	GPC4	ORPHA:373
HP:0002664	Neoplasm	3815	KIT	OMIM:172800
HP:0002664	Neoplasm	4683	NBN	ORPHA:647
HP:0002664	Neoplasm	51750	RTEL1	ORPHA:3322
HP:0002664	Neoplasm	51750	RTEL1	ORPHA:1775
HP:0002664	Neoplasm	65057	ACD	ORPHA:3322
HP:0002664	Neoplasm	5073	PARN	ORPHA:3322
HP:0002664	Neoplasm	5073	PARN	ORPHA:1775
HP:0002664	Neoplasm	7015	TERT	ORPHA:3322
HP:0002664	Neoplasm	7015	TERT	ORPHA:1775
HP:0002664	Neoplasm	26277	TINF2	ORPHA:3322
HP:0002664	Neoplasm	26277	TINF2	ORPHA:1775
HP:0002664	Neoplasm	1736	DKC1	ORPHA:3322
HP:0002664	Neoplasm	1736	DKC1	ORPHA:1775
HP:0002664	Neoplasm	1540	CYLD	OMIM:605041
HP:0002664	Neoplasm	1029	CDKN2A	ORPHA:524
HP:0002664	Neoplasm	4193	MDM2	ORPHA:524
HP:0002664	Neoplasm	11200	CHEK2	ORPHA:524
HP:0002664	Neoplasm	4860	PNP	ORPHA:760
HP:0002664	Neoplasm	641	BLM	ORPHA:125
HP:0002664	Neoplasm	5111	PCNA	ORPHA:438134
HP:0002664	Neoplasm	80169	CTC1	ORPHA:1775
HP:0002664	Neoplasm	55651	NHP2	ORPHA:1775
HP:0002664	Neoplasm	79650	USB1	ORPHA:1775
HP:0002664	Neoplasm	55135	WRAP53	ORPHA:1775
HP:0002664	Neoplasm	4869	NPM1	ORPHA:1775
HP:0002664	Neoplasm	7012	TERC	ORPHA:1775
HP:0002664	Neoplasm	55505	NOP10	ORPHA:1775
HP:0002664	Neoplasm	7298	TYMS	ORPHA:1775
HP:0002664	Neoplasm	6794	STK11	ORPHA:2869
HP:0002664	Neoplasm	23476	BRD4	ORPHA:443167
HP:0002664	Neoplasm	256646	NUTM1	ORPHA:443167
HP:0002664	Neoplasm	2068	ERCC2	ORPHA:910
HP:0002664	Neoplasm	7507	XPA	ORPHA:910
HP:0002664	Neoplasm	7508	XPC	ORPHA:910
HP:0002664	Neoplasm	1643	DDB2	ORPHA:910
HP:0002664	Neoplasm	2073	ERCC5	ORPHA:910
HP:0002664	Neoplasm	3561	IL2RG	ORPHA:276
HP:0002664	Neoplasm	3561	IL2RG	ORPHA:39041
HP:0002664	Neoplasm	5551	PRF1	OMIM:605027
HP:0002664	Neoplasm	25788	RAD54B	OMIM:605027
HP:0002664	Neoplasm	8438	RAD54L	OMIM:605027
HP:0002664	Neoplasm	6023	RMRP	OMIM:250250
HP:0002664	Neoplasm	6023	RMRP	ORPHA:39041
HP:0002664	Neoplasm	5238	PGM3	ORPHA:443811
HP:0002664	Neoplasm	987	LRBA	OMIM:614700
HP:0002664	Neoplasm	7518	XRCC4	ORPHA:99812
HP:0002664	Neoplasm	55636	CHD7	ORPHA:39041
HP:0002664	Neoplasm	5896	RAG1	ORPHA:39041
HP:0002664	Neoplasm	5897	RAG2	ORPHA:39041
HP:0002664	Neoplasm	64421	DCLRE1C	ORPHA:39041
HP:0002664	Neoplasm	100	ADA	ORPHA:39041
HP:0002664	Neoplasm	3575	IL7R	ORPHA:39041
HP:0002664	Neoplasm	1776	DNASE1L3	ORPHA:36412
HP:0002664	Neoplasm	596	BCL2	ORPHA:545
HP:0002664	Neoplasm	3492	IGH	ORPHA:545
HP:0002664	Neoplasm	3123	HLA-DRB1	ORPHA:545
HP:0002664	Neoplasm	604	BCL6	ORPHA:545
HP:0002664	Neoplasm	1729	DIAPH1	ORPHA:477814
HP:0002664	Neoplasm	5293	PIK3CD	ORPHA:397596
HP:0002664	Neoplasm	5295	PIK3R1	ORPHA:397596
HP:0002664	Neoplasm	939	CD27	OMIM:615122
HP:0002664	Neoplasm	4068	SH2D1A	OMIM:308240
HP:0002664	Neoplasm	331	XIAP	OMIM:308240
HP:0002664	Neoplasm	84061	MAGT1	OMIM:300853
HP:0002664	Neoplasm	6774	STAT3	ORPHA:2314
HP:0002664	Neoplasm	3117	HLA-DQA1	OMIM:212750
HP:0002664	Neoplasm	3119	HLA-DQB1	OMIM:212750
HP:0002664	Neoplasm	3514	IGKC	ORPHA:183675
HP:0002664	Neoplasm	3501	IGHG2	ORPHA:183675
HP:0002664	Neoplasm	51428	DDX41	OMIM:616871
HP:0002664	Neoplasm	8626	TP63	ORPHA:1896
HP:0002664	Neoplasm	4790	NFKB1	ORPHA:1572
HP:0002664	Neoplasm	4791	NFKB2	ORPHA:1572
HP:0002664	Neoplasm	8742	TNFSF12	ORPHA:1572
HP:0002664	Neoplasm	931	MS4A1	ORPHA:1572
HP:0002664	Neoplasm	975	CD81	ORPHA:1572
HP:0002664	Neoplasm	359948	IRF2BP2	ORPHA:1572
HP:0002664	Neoplasm	7535	ZAP70	ORPHA:911
HP:0002664	Neoplasm	1743	DLST	OMIM:618475
HP:0002664	Neoplasm	716	C1S	OMIM:617174
HP:0002664	Neoplasm	9158	FIBP	ORPHA:500095
HP:0002664	Neoplasm	9158	FIBP	OMIM:617107
HP:0002664	Neoplasm	9759	HDAC4	ORPHA:1001
HP:0002664	Neoplasm	4591	TRIM37	OMIM:253250
HP:0002664	Neoplasm	6662	SOX9	ORPHA:251510
HP:0002664	Neoplasm	6845	VAMP7	ORPHA:251510
HP:0002664	Neoplasm	51741	WWOX	ORPHA:251510
HP:0002664	Neoplasm	4214	MAP3K1	ORPHA:251510
HP:0002664	Neoplasm	2516	NR5A1	ORPHA:251510
HP:0002664	Neoplasm	57647	DHX37	ORPHA:251510
HP:0002664	Neoplasm	6736	SRY	ORPHA:251510
HP:0002664	Neoplasm	23414	ZFPM2	ORPHA:251510
HP:0002664	Neoplasm	190	NR0B1	ORPHA:251510
HP:0002664	Neoplasm	2626	GATA4	ORPHA:251510
HP:0002664	Neoplasm	5080	PAX6	OMIM:194072
HP:0002664	Neoplasm	8402	SLC25A11	OMIM:618464
HP:0002664	Neoplasm	8402	SLC25A11	ORPHA:29072
HP:0002664	Neoplasm	4191	MDH2	ORPHA:29072
HP:0002664	Neoplasm	23095	KIF1B	ORPHA:29072
HP:0002664	Neoplasm	2034	EPAS1	ORPHA:276621
HP:0002664	Neoplasm	55027	HEATR3	OMIM:620072
HP:0002664	Neoplasm	55027	HEATR3	ORPHA:124
HP:0002664	Neoplasm	6138	RPL15	ORPHA:124
HP:0002664	Neoplasm	6165	RPL35A	ORPHA:124
HP:0002664	Neoplasm	6132	RPL8	ORPHA:124
HP:0002664	Neoplasm	6223	RPS19	ORPHA:124
HP:0002664	Neoplasm	6223	RPS19	OMIM:105650
HP:0002664	Neoplasm	6232	RPS27	ORPHA:124
HP:0002664	Neoplasm	6160	RPL31	ORPHA:124
HP:0002664	Neoplasm	6201	RPS7	ORPHA:124
HP:0002664	Neoplasm	6155	RPL27	ORPHA:124
HP:0002664	Neoplasm	6234	RPS28	ORPHA:124
HP:0002664	Neoplasm	6135	RPL11	ORPHA:124
HP:0002664	Neoplasm	6229	RPS24	ORPHA:124
HP:0002664	Neoplasm	6125	RPL5	ORPHA:124
HP:0002664	Neoplasm	6204	RPS10	ORPHA:124
HP:0002664	Neoplasm	6133	RPL9	ORPHA:124
HP:0002664	Neoplasm	6231	RPS26	ORPHA:124
HP:0002664	Neoplasm	11224	RPL35	ORPHA:124
HP:0002664	Neoplasm	6218	RPS17	ORPHA:124
HP:0002664	Neoplasm	6154	RPL26	ORPHA:124
HP:0002664	Neoplasm	6210	RPS15A	ORPHA:124
HP:0002664	Neoplasm	90121	TSR2	ORPHA:124
HP:0002664	Neoplasm	6141	RPL18	ORPHA:124
HP:0002664	Neoplasm	6235	RPS29	ORPHA:124
HP:0002664	Neoplasm	51816	ADA2	ORPHA:124
HP:0002664	Neoplasm	8878	SQSTM1	OMIM:167250
HP:0002664	Neoplasm	80326	WNT10A	OMIM:224750
HP:0002664	Neoplasm	80326	WNT10A	ORPHA:50944
HP:0002664	Neoplasm	10519	CIB1	OMIM:618267
HP:0002664	Neoplasm	5921	RASA1	OMIM:605462
HP:0002664	Neoplasm	11322	TMC6	OMIM:226400
HP:0002664	Neoplasm	9817	KEAP1	ORPHA:276399
HP:0002664	Neoplasm	4488	MSX2	ORPHA:60015
HP:0002664	Neoplasm	8665	EIF3F	OMIM:618295
HP:0002664	Neoplasm	4330	MN1	OMIM:607174
HP:0002664	Neoplasm	55851	PSENEN	OMIM:613736
HP:0002664	Neoplasm	8795	TNFRSF10B	OMIM:275355
HP:0002664	Neoplasm	3621	ING1	OMIM:275355
HP:0002664	Neoplasm	3574	IL7	ORPHA:302
HP:0002664	Neoplasm	147138	TMC8	ORPHA:302
HP:0002664	Neoplasm	3909	LAMA3	ORPHA:79404
HP:0002664	Neoplasm	3918	LAMC2	ORPHA:79404
HP:0002664	Neoplasm	3914	LAMB3	ORPHA:79404
HP:0002664	Neoplasm	55612	FERMT1	ORPHA:2908
HP:0002664	Neoplasm	833	CARS1	ORPHA:33364
HP:0002664	Neoplasm	7737	RNF113A	ORPHA:33364
HP:0002664	Neoplasm	136647	MPLKIP	ORPHA:33364
HP:0002664	Neoplasm	6897	TARS1	ORPHA:33364
HP:0002664	Neoplasm	16	AARS1	ORPHA:33364
HP:0002664	Neoplasm	2961	GTF2E2	ORPHA:33364
HP:0002664	Neoplasm	81704	DOCK8	OMIM:243700
HP:0002664	Neoplasm	81704	DOCK8	ORPHA:217390
HP:0002664	Neoplasm	23328	SASH1	OMIM:618373
HP:0002664	Neoplasm	2224	FDPS	ORPHA:79152
HP:0002664	Neoplasm	4597	MVD	ORPHA:79152
HP:0002664	Neoplasm	63910	SLC17A9	ORPHA:79152
HP:0002664	Neoplasm	4598	MVK	ORPHA:79152
HP:0002664	Neoplasm	54894	RNF43	ORPHA:157798
HP:0002664	Neoplasm	284058	KANSL1	ORPHA:363958
HP:0002664	Neoplasm	284058	KANSL1	ORPHA:363965
HP:0002664	Neoplasm	388662	SLC6A17	ORPHA:457212
HP:0002664	Neoplasm	285282	RABL3	OMIM:618680
HP:0002664	Neoplasm	285282	RABL3	ORPHA:1333
HP:0002664	Neoplasm	9401	RECQL4	ORPHA:221016
HP:0002664	Neoplasm	5429	POLH	ORPHA:90342
HP:0002664	Neoplasm	5781	PTPN11	ORPHA:500
HP:0002664	Neoplasm	673	BRAF	ORPHA:500
HP:0002664	Neoplasm	5894	RAF1	ORPHA:500
HP:0002664	Neoplasm	7373	COL14A1	ORPHA:79501
HP:0002664	Neoplasm	79719	AAGAB	ORPHA:79501
HP:0002664	Neoplasm	5892	RAD51D	ORPHA:145
HP:0002664	Neoplasm	10111	RAD50	ORPHA:145
HP:0002664	Neoplasm	580	BARD1	ORPHA:145
HP:0002664	Neoplasm	4361	MRE11	ORPHA:145
HP:0002664	Neoplasm	4893	NRAS	OMIM:249400
HP:0002664	Neoplasm	3845	KRAS	ORPHA:1333
HP:0002664	Neoplasm	4089	SMAD4	ORPHA:1333
HP:0002664	Neoplasm	23022	PALLD	ORPHA:1333
HP:0002664	Neoplasm	8314	BAP1	ORPHA:618
HP:0002664	Neoplasm	4286	MITF	ORPHA:618
HP:0002664	Neoplasm	1019	CDK4	ORPHA:618
HP:0002664	Neoplasm	4255	MGMT	ORPHA:618
HP:0002664	Neoplasm	54386	TERF2IP	ORPHA:618
HP:0002664	Neoplasm	4157	MC1R	ORPHA:618
HP:0002664	Neoplasm	25913	POT1	ORPHA:618
HP:0002664	Neoplasm	25913	POT1	OMIM:615848
HP:0002664	Neoplasm	1030	CDKN2B	ORPHA:618
HP:0002664	Neoplasm	51360	MBTPS2	ORPHA:659
HP:0002664	Neoplasm	162514	TRPV3	ORPHA:659
HP:0002664	Neoplasm	64065	PERP	ORPHA:659
HP:0002664	Neoplasm	7299	TYR	ORPHA:79434
HP:0002664	Neoplasm	1075	CTSC	ORPHA:678
HP:0002664	Neoplasm	64682	ANAPC1	ORPHA:221008
HP:0002664	Neoplasm	128	ADH5	OMIM:619151
HP:0002664	Neoplasm	7066	THPO	ORPHA:71493
HP:0002664	Neoplasm	6208	RPS14	OMIM:153550
HP:0002664	Neoplasm	6208	RPS14	ORPHA:86841
HP:0002664	Neoplasm	54809	SAMD9	OMIM:617053
HP:0002664	Neoplasm	54809	SAMD9	OMIM:619041
HP:0002664	Neoplasm	23308	ICOSLG	OMIM:620825
HP:0002664	Neoplasm	219285	SAMD9L	OMIM:252270
HP:0002664	Neoplasm	23451	SF3B1	ORPHA:75564
HP:0002664	Neoplasm	23451	SF3B1	OMIM:614286
HP:0002664	Neoplasm	114803	MYSM1	ORPHA:508542
HP:0002664	Neoplasm	7317	UBA1	OMIM:301054
HP:0002664	Neoplasm	6729	SRP54	OMIM:260400
HP:0002664	Neoplasm	546	ATRX	OMIM:300448
HP:0002664	Neoplasm	546	ATRX	ORPHA:231401
HP:0002664	Neoplasm	6731	SRP72	OMIM:614675
HP:0002664	Neoplasm	6117	RPA1	OMIM:619767
HP:0002664	Neoplasm	9837	GINS1	OMIM:617827
HP:0002664	Neoplasm	2782	GNB1	OMIM:614286
HP:0002664	Neoplasm	6603	SMARCD2	OMIM:617475
HP:0002664	Neoplasm	162417	NAGS	ORPHA:927
HP:0002664	Neoplasm	92345	NAF1	OMIM:620365
HP:0002664	Neoplasm	23218	NBEAL2	ORPHA:721
HP:0002664	Neoplasm	1441	CSF3R	OMIM:162830
HP:0002664	Neoplasm	10019	SH2B3	ORPHA:3318
HP:0002664	Neoplasm	10456	HAX1	OMIM:610738
HP:0002664	Neoplasm	1028	CDKN1C	OMIM:130650
HP:0002664	Neoplasm	3481	IGF2	OMIM:130650
HP:0002664	Neoplasm	3784	KCNQ1	OMIM:130650
HP:0002664	Neoplasm	10984	KCNQ1OT1	OMIM:130650
HP:0002664	Neoplasm	9652	SKIC3	ORPHA:84064
HP:0002664	Neoplasm	6499	SKIC2	ORPHA:84064
HP:0002664	Neoplasm	6597	SMARCA4	ORPHA:1465
HP:0002664	Neoplasm	6659	SOX4	ORPHA:1465
HP:0002664	Neoplasm	8289	ARID1A	ORPHA:1465
HP:0002664	Neoplasm	5977	DPF2	ORPHA:1465
HP:0002664	Neoplasm	6601	SMARCC2	ORPHA:1465
HP:0002664	Neoplasm	6602	SMARCD1	ORPHA:1465
HP:0002664	Neoplasm	57492	ARID1B	ORPHA:1465
HP:0002664	Neoplasm	196528	ARID2	ORPHA:1465
HP:0002664	Neoplasm	6664	SOX11	ORPHA:1465
HP:0002664	Neoplasm	26040	SETBP1	OMIM:269150
HP:0002664	Neoplasm	26040	SETBP1	ORPHA:798
HP:0002664	Neoplasm	388015	RTL1	ORPHA:96334
HP:0002664	Neoplasm	8788	DLK1	ORPHA:96334
HP:0002664	Neoplasm	55384	MEG3	ORPHA:96334
HP:0002664	Neoplasm	199221	DZIP1L	ORPHA:731
HP:0002664	Neoplasm	5314	PKHD1	ORPHA:731
HP:0002664	Neoplasm	2542	SLC37A4	OMIM:232240
HP:0002664	Neoplasm	23432	GPR161	OMIM:155255
HP:0002664	Neoplasm	8518	ELP1	OMIM:155255
HP:0002664	Neoplasm	220296	HEPACAM	ORPHA:210548
HP:0002664	Neoplasm	3766	KCNJ10	ORPHA:705
HP:0002664	Neoplasm	3766	KCNJ10	OMIM:274600
HP:0002664	Neoplasm	2299	FOXI1	ORPHA:705
HP:0002664	Neoplasm	2299	FOXI1	OMIM:274600
HP:0002664	Neoplasm	5172	SLC26A4	ORPHA:705
HP:0002664	Neoplasm	5172	SLC26A4	OMIM:274600
HP:0002664	Neoplasm	7038	TG	OMIM:274700
HP:0002664	Neoplasm	64072	CDH23	OMIM:617540
HP:0002664	Neoplasm	9101	USP8	OMIM:219090
HP:0002664	Neoplasm	1026	CDKN1A	ORPHA:652
HP:0002664	Neoplasm	1031	CDKN2C	ORPHA:652
HP:0002664	Neoplasm	91	ACVR1B	OMIM:260350
HP:0002664	Neoplasm	2642	GCGR	ORPHA:438274
HP:0002664	Neoplasm	1188	CLCNKB	ORPHA:358
HP:0002664	Neoplasm	6559	SLC12A3	ORPHA:358
HP:0002664	Neoplasm	6690	SPINK1	OMIM:608189
HP:0002664	Neoplasm	2313	FLI1	ORPHA:370348
HP:0002664	Neoplasm	57522	SRGAP1	OMIM:188470
HP:0002664	Neoplasm	6609	SMPD1	ORPHA:77293
HP:0002664	Neoplasm	5244	ABCB4	ORPHA:69663
HP:0002664	Neoplasm	56623	INPP5E	ORPHA:1454
HP:0002664	Neoplasm	91147	TMEM67	ORPHA:1454
HP:0002664	Neoplasm	23322	RPGRIP1L	ORPHA:1454
HP:0002664	Neoplasm	57545	CC2D2A	ORPHA:1454
HP:0002664	Neoplasm	7543	ZFX	OMIM:301118
HP:0002664	Neoplasm	846	CASR	OMIM:145980
HP:0002664	Neoplasm	9247	GCM2	ORPHA:99879
HP:0002664	Neoplasm	8915	BCL10	OMIM:273300
HP:0002664	Neoplasm	8313	AXIN2	OMIM:608615
HP:0002664	Neoplasm	2064	ERBB2	OMIM:167000
HP:0002664	Neoplasm	999	CDH1	OMIM:167000
HP:0002664	Neoplasm	999	CDH1	OMIM:114480
HP:0002664	Neoplasm	4978	OPCML	OMIM:167000
HP:0002664	Neoplasm	5071	PRKN	OMIM:167000
HP:0002664	Neoplasm	4835	NQO2	OMIM:114480
HP:0002664	Neoplasm	5245	PHB1	OMIM:114480
HP:0002664	Neoplasm	3161	HMMR	OMIM:114480
HP:0002664	Neoplasm	8493	PPM1D	OMIM:114480
HP:0002664	Neoplasm	9821	RB1CC1	OMIM:114480
HP:0002664	Neoplasm	2099	ESR1	OMIM:114480
HP:0002664	Neoplasm	7517	XRCC3	OMIM:114480
HP:0002664	Neoplasm	841	CASP8	OMIM:114480
HP:0002664	Neoplasm	2263	FGFR2	OMIM:101400
HP:0002664	Neoplasm	7291	TWIST1	OMIM:101400
HP:0002664	Neoplasm	4092	SMAD7	OMIM:612229
HP:0002664	Neoplasm	429	ASCL1	ORPHA:99803
HP:0002664	Neoplasm	5590	PRKCZ	ORPHA:1606
HP:0002664	Neoplasm	2563	GABRD	ORPHA:1606
HP:0002664	Neoplasm	8510	MMP23B	ORPHA:1606
HP:0002664	Neoplasm	7798	LUZP1	ORPHA:1606
HP:0002664	Neoplasm	6497	SKI	ORPHA:1606
HP:0002664	Neoplasm	10630	PDPN	ORPHA:1606
HP:0002664	Neoplasm	10277	UBE4B	ORPHA:1606
HP:0002664	Neoplasm	8514	KCNAB2	ORPHA:1606
HP:0002664	Neoplasm	473	RERE	ORPHA:1606
HP:0002664	Neoplasm	63976	PRDM16	ORPHA:1606
HP:0002664	Neoplasm	54897	CASZ1	ORPHA:1606
HP:0002664	Neoplasm	8929	PHOX2B	ORPHA:2151
HP:0002664	Neoplasm	8929	PHOX2B	ORPHA:635
HP:0002664	Neoplasm	4613	MYCN	ORPHA:635
HP:0002664	Neoplasm	238	ALK	ORPHA:635
HP:0002664	Neoplasm	389421	LIN28B	ORPHA:635
HP:0002664	Neoplasm	4004	LMO1	ORPHA:635
HP:0002664	Neoplasm	57531	HACE1	ORPHA:635
HP:0002664	Neoplasm	79944	L2HGDH	ORPHA:79314
HP:0002664	Neoplasm	4072	EPCAM	ORPHA:144
HP:0002664	Neoplasm	4292	MLH1	ORPHA:144
HP:0002664	Neoplasm	5395	PMS2	ORPHA:144
HP:0002664	Neoplasm	7048	TGFBR2	ORPHA:144
HP:0002664	Neoplasm	2956	MSH6	ORPHA:144
HP:0002664	Neoplasm	5378	PMS1	ORPHA:144
HP:0002664	Neoplasm	4436	MSH2	ORPHA:144
HP:0002664	Neoplasm	171023	ASXL1	ORPHA:98850
HP:0002664	Neoplasm	171023	ASXL1	ORPHA:98849
HP:0002664	Neoplasm	54790	TET2	ORPHA:98850
HP:0002664	Neoplasm	54790	TET2	ORPHA:98849
HP:0002664	Neoplasm	54790	TET2	ORPHA:824
HP:0002664	Neoplasm	867	CBL	ORPHA:98850
HP:0002664	Neoplasm	861	RUNX1	ORPHA:98850
HP:0002664	Neoplasm	6427	SRSF2	ORPHA:98850
HP:0002664	Neoplasm	6427	SRSF2	ORPHA:98849
HP:0002664	Neoplasm	811	CALR	ORPHA:824
HP:0002664	Neoplasm	4352	MPL	ORPHA:824
HP:0002664	Neoplasm	3717	JAK2	ORPHA:824
HP:0002664	Neoplasm	1146	CHRNG	OMIM:265000
HP:0002664	Neoplasm	10526	IPO8	OMIM:619472
HP:0002664	Neoplasm	26511	CHIC2	OMIM:601626
HP:0002664	Neoplasm	4026	LPP	OMIM:601626
HP:0002664	Neoplasm	8021	NUP214	OMIM:601626
HP:0002664	Neoplasm	8301	PICALM	OMIM:601626
HP:0002664	Neoplasm	8028	MLLT10	OMIM:601626
HP:0002664	Neoplasm	2322	FLT3	OMIM:601626
HP:0002664	Neoplasm	1050	CEBPA	OMIM:601626
HP:0002664	Neoplasm	2120	ETV6	OMIM:601626
HP:0002664	Neoplasm	6455	SH3GL1	OMIM:601626
HP:0002664	Neoplasm	150274	HSCB	OMIM:619523
HP:0002664	Neoplasm	3313	HSPA9	OMIM:182170
HP:0002664	Neoplasm	5914	RARA	OMIM:612376
HP:0002664	Neoplasm	83550	GPR101	ORPHA:963
HP:0002664	Neoplasm	9049	AIP	ORPHA:963
HP:0002664	Neoplasm	2137	EXTL3	ORPHA:508533
HP:0002664	Neoplasm	9653	HS2ST1	OMIM:619194
HP:0002664	Neoplasm	10484	SEC23A	ORPHA:50814
HP:0002664	Neoplasm	10484	SEC23A	OMIM:607812
HP:0002664	Neoplasm	1857	DVL3	ORPHA:3107
HP:0002664	Neoplasm	7474	WNT5A	ORPHA:3107
HP:0002664	Neoplasm	1855	DVL1	ORPHA:3107
HP:0002664	Neoplasm	57465	TBC1D24	ORPHA:79500
HP:0002664	Neoplasm	22827	PUF60	ORPHA:508488
HP:0002664	Neoplasm	3791	KDR	OMIM:602089
HP:0002664	Neoplasm	151188	ARL6IP6	ORPHA:1556
HP:0002664	Neoplasm	970	CD70	OMIM:618261
HP:0002664	Neoplasm	3702	ITK	OMIM:613011
HP:0002664	Neoplasm	50485	SMARCAL1	ORPHA:1830
HP:0002664	Neoplasm	1503	CTPS1	OMIM:615897
HP:0002664	Neoplasm	5580	PRKCD	OMIM:615559
HP:0002664	Neoplasm	6789	STK4	OMIM:614868
HP:0002664	Neoplasm	4173	MCM4	OMIM:609981
HP:0002664	Neoplasm	25	ABL1	ORPHA:521
HP:0002664	Neoplasm	210	ALAD	ORPHA:100924
HP:0002664	Neoplasm	7030	TFE3	OMIM:300854
HP:0002664	Neoplasm	55193	PBRM1	OMIM:144700
HP:0002664	Neoplasm	6927	HNF1A	OMIM:144700
HP:0002664	Neoplasm	4968	OGG1	OMIM:144700
HP:0002664	Neoplasm	11236	RNF139	OMIM:144700
HP:0002664	Neoplasm	6928	HNF1B	OMIM:144700
HP:0002664	Neoplasm	6928	HNF1B	ORPHA:93111
HP:0002664	Neoplasm	84172	POLR1B	ORPHA:861
HP:0002664	Neoplasm	9533	POLR1C	ORPHA:861
HP:0002664	Neoplasm	51082	POLR1D	ORPHA:861
HP:0002664	Neoplasm	6949	TCOF1	ORPHA:861
HP:0002664	Neoplasm	440275	EIF2AK4	OMIM:234810
HP:0002664	Neoplasm	440275	EIF2AK4	ORPHA:199241
HP:0002664	Neoplasm	826	CAPNS1	OMIM:620777
HP:0002664	Neoplasm	727897	MUC5B	OMIM:178500
HP:0002664	Neoplasm	6440	SFTPC	OMIM:178500
HP:0002664	Neoplasm	729238	SFTPA2	OMIM:178500
HP:0002664	Neoplasm	6886	TAL1	OMIM:613065
HP:0002664	Neoplasm	6887	TAL2	OMIM:613065
HP:0002664	Neoplasm	10320	IKZF1	OMIM:616873
HP:0002664	Neoplasm	11330	CTRC	ORPHA:103918
HP:0002664	Neoplasm	1854	DUT	OMIM:620044
HP:0002664	Neoplasm	56916	SMARCAD1	OMIM:181600
HP:0002664	Neoplasm	6775	STAT4	OMIM:620443
HP:0002664	Neoplasm	3861	KRT14	ORPHA:79396
HP:0002664	Neoplasm	4763	NF1	OMIM:162200
HP:0002664	Neoplasm	5002	SLC22A18	OMIM:268210
HP:0002664	Neoplasm	23405	DICER1	OMIM:180295
HP:0002664	Neoplasm	8379	MAD1L1	OMIM:620189
HP:0002664	Neoplasm	84133	ZNRF3	ORPHA:1501
HP:0002664	Neoplasm	581	BAX	OMIM:114500
HP:0002664	Neoplasm	5795	PTPRJ	OMIM:114500
HP:0002664	Neoplasm	5157	PDGFRL	OMIM:114500
HP:0002664	Neoplasm	10395	DLC1	OMIM:114500
HP:0002664	Neoplasm	4163	MCC	OMIM:114500
HP:0002664	Neoplasm	7097	TLR2	OMIM:114500
HP:0002664	Neoplasm	6714	SRC	OMIM:114500
HP:0002664	Neoplasm	27030	MLH3	OMIM:114500
HP:0002664	Neoplasm	5320	PLA2G2A	OMIM:114500
HP:0002664	Neoplasm	6790	AURKA	OMIM:114500
HP:0002664	Neoplasm	5782	PTPN12	OMIM:114500
HP:0002664	Neoplasm	2271	FH	OMIM:150800
HP:0002664	Neoplasm	201163	FLCN	OMIM:135150
HP:0002664	Neoplasm	2131	EXT1	ORPHA:321
HP:0002664	Neoplasm	2131	EXT1	OMIM:133700
HP:0002664	Neoplasm	2131	EXT1	OMIM:215300
HP:0002664	Neoplasm	2132	EXT2	ORPHA:321
HP:0002664	Neoplasm	2132	EXT2	OMIM:133701
HP:0002664	Neoplasm	8013	NR4A3	OMIM:612237
HP:0002664	Neoplasm	8148	TAF15	OMIM:612237
HP:0002664	Neoplasm	5546	PRCC	OMIM:605074
HP:0002664	Neoplasm	203068	TUBB	ORPHA:2505
HP:0002664	Neoplasm	203068	TUBB	OMIM:156610
HP:0002664	Neoplasm	10982	MAPRE2	ORPHA:2505
HP:0002664	Neoplasm	64127	NOD2	ORPHA:90340
HP:0002664	Neoplasm	2629	GBA1	OMIM:230800
HP:0002664	Neoplasm	2629	GBA1	ORPHA:77259
HP:0002664	Neoplasm	595	CCND1	OMIM:254500
HP:0002664	Neoplasm	950	SCARB2	ORPHA:77259
HP:0002664	Neoplasm	2308	FOXO1	OMIM:268220
HP:0002664	Neoplasm	5077	PAX3	OMIM:268220
HP:0002664	Neoplasm	5081	PAX7	OMIM:268220
HP:0002664	Neoplasm	57688	ZSWIM6	ORPHA:1827
HP:0002664	Neoplasm	57688	ZSWIM6	OMIM:603671
HP:0002664	Neoplasm	8092	ALX1	ORPHA:306542
HP:0002664	Neoplasm	26585	GREM1	ORPHA:157794
HP:0002664	Neoplasm	4247	MGAT2	OMIM:212066
HP:0002664	Neoplasm	5447	POR	ORPHA:95699
HP:0002664	Neoplasm	157570	ESCO2	OMIM:268300
HP:0002664	Neoplasm	257	ALX3	OMIM:136760
HP:0002664	Neoplasm	10225	CD96	ORPHA:1308
HP:0002664	Neoplasm	8930	MBD4	OMIM:619975
HP:0002664	Neoplasm	8930	MBD4	OMIM:606660
HP:0002664	Neoplasm	10804	GJB6	ORPHA:477
HP:0002664	Neoplasm	2706	GJB2	ORPHA:477
HP:0002664	Neoplasm	1499	CTNNB1	ORPHA:873
HP:0002664	Neoplasm	324	APC	ORPHA:873
HP:0002664	Neoplasm	1493	CTLA4	ORPHA:3162
HP:0002664	Neoplasm	1493	CTLA4	ORPHA:2584
HP:0002664	Neoplasm	940	CD28	ORPHA:3162
HP:0002664	Neoplasm	940	CD28	ORPHA:2584
HP:0002664	Neoplasm	7133	TNFRSF1B	ORPHA:3162
HP:0002664	Neoplasm	7133	TNFRSF1B	ORPHA:2584
HP:0002664	Neoplasm	355	FAS	ORPHA:3261
HP:0002664	Neoplasm	356	FASLG	ORPHA:3261
HP:0002664	Neoplasm	843	CASP10	ORPHA:3261
HP:0002664	Neoplasm	9630	GNA14	ORPHA:1063
HP:0002664	Neoplasm	4913	NTHL1	ORPHA:454840
HP:0002664	Neoplasm	5155	PDGFB	ORPHA:2495
HP:0002664	Neoplasm	5155	PDGFB	ORPHA:31112
HP:0002664	Neoplasm	84231	TRAF7	ORPHA:2495
HP:0002664	Neoplasm	6608	SMO	ORPHA:2495
HP:0002664	Neoplasm	6605	SMARCE1	ORPHA:2495
HP:0002664	Neoplasm	3248	HPGD	ORPHA:2796
HP:0002664	Neoplasm	6578	SLCO2A1	ORPHA:2796
HP:0002664	Neoplasm	8943	AP3D1	ORPHA:54
HP:0002664	Neoplasm	4935	GPR143	ORPHA:54
HP:0002664	Neoplasm	404672	GTF2H5	OMIM:616395
HP:0002664	Neoplasm	2697	GJA1	ORPHA:317
HP:0002664	Neoplasm	2707	GJB3	ORPHA:317
HP:0002664	Neoplasm	2531	KDSR	ORPHA:317
HP:0002664	Neoplasm	127534	GJB4	ORPHA:317
HP:0002664	Neoplasm	2324	FLT4	ORPHA:79452
HP:0002664	Neoplasm	9780	PIEZO1	ORPHA:79452
HP:0002664	Neoplasm	285	ANGPT2	ORPHA:79452
HP:0002664	Neoplasm	57165	GJC2	ORPHA:79452
HP:0002664	Neoplasm	4000	LMNA	ORPHA:79474
HP:0002664	Neoplasm	1277	COL1A1	ORPHA:31112
HP:0002664	Neoplasm	7390	UROS	ORPHA:79277
HP:0002664	Neoplasm	2623	GATA1	ORPHA:79277
HP:0002664	Neoplasm	4437	MSH3	ORPHA:480536
HP:0002664	Neoplasm	4952	OCRL	ORPHA:534
HP:0002664	Neoplasm	6591	SNAI2	ORPHA:2884
HP:0002664	Neoplasm	51151	SLC45A2	ORPHA:79435
HP:0002664	Neoplasm	389692	MAFA	OMIM:147630
HP:0002664	Neoplasm	3767	KCNJ11	ORPHA:79644
HP:0002664	Neoplasm	6329	SCN4A	ORPHA:681
HP:0002664	Neoplasm	779	CACNA1S	ORPHA:681
HP:0002664	Neoplasm	10008	KCNE3	ORPHA:681
HP:0002664	Neoplasm	84196	USP48	ORPHA:96253
HP:0002664	Neoplasm	2908	NR3C1	ORPHA:96253
HP:0002664	Neoplasm	168667	BMPER	OMIM:608022
HP:0002664	Neoplasm	3735	KARS1	OMIM:613641
HP:0002664	Neoplasm	2639	GCDH	ORPHA:25
HP:0002664	Neoplasm	3458	IFNG	OMIM:613254
HP:0002664	Neoplasm	7249	TSC2	OMIM:613254
HP:0002664	Neoplasm	5333	PLCD1	ORPHA:2387
HP:0002664	Neoplasm	7248	TSC1	OMIM:191100
HP:0002664	Neoplasm	3872	KRT17	ORPHA:841
HP:0002664	Neoplasm	126792	B3GALT6	ORPHA:536467
HP:0002664	Neoplasm	6850	SYK	OMIM:619381
HP:0002664	Neoplasm	4784	NFIX	OMIM:602535
HP:0002664	Neoplasm	9382	COG1	OMIM:611209
HP:0002664	Neoplasm	7080	NKX2-1	OMIM:610978
HP:0002664	Neoplasm	2138	EYA1	OMIM:113650
HP:0002664	Neoplasm	6495	SIX1	OMIM:113650
HP:0002664	Neoplasm	4921	DDR2	OMIM:618175
HP:0002664	Neoplasm	54914	FOCAD	OMIM:619991
HP:0002664	Neoplasm	5925	RB1	ORPHA:1587
HP:0002664	Neoplasm	5925	RB1	OMIM:180200
HP:0002664	Neoplasm	5925	RB1	OMIM:259500
HP:0002664	Neoplasm	7020	TFAP2A	OMIM:113620
HP:0002664	Neoplasm	90	ACVR1	OMIM:135100
HP:0002664	Neoplasm	51626	DYNC2LI1	OMIM:617088
HP:0002664	Neoplasm	79577	CDC73	OMIM:145001
HP:0002664	Neoplasm	91754	NEK9	ORPHA:64754
HP:0002664	Neoplasm	60	ACTB	ORPHA:64755
HP:0002664	Neoplasm	60	ACTB	OMIM:620470
HP:0002664	Neoplasm	26123	TCTN3	ORPHA:2753
HP:0002664	Neoplasm	2316	FLNA	OMIM:300244
HP:0002664	Neoplasm	1288	COL4A6	ORPHA:1018
HP:0002664	Neoplasm	1287	COL4A5	ORPHA:1018
HP:0002664	Neoplasm	3572	IL6ST	OMIM:619750
HP:0002664	Neoplasm	5618	PRLR	OMIM:615554
HP:0002664	Neoplasm	64218	SEMA4A	ORPHA:440437
HP:0002664	Neoplasm	5426	POLE	ORPHA:440437
HP:0002664	Neoplasm	657	BMPR1A	ORPHA:440437
HP:0002664	Neoplasm	6224	RPS20	ORPHA:440437
HP:0002664	Neoplasm	4595	MUTYH	ORPHA:440437
HP:0002664	Neoplasm	5424	POLD1	ORPHA:440437
HP:0002664	Neoplasm	2260	FGFR1	ORPHA:2396
HP:0002664	Neoplasm	2248	FGF3	ORPHA:2791
HP:0002664	Neoplasm	51008	ASCC1	OMIM:614266
HP:0002664	Neoplasm	115908	CTHRC1	OMIM:614266
HP:0002664	Neoplasm	4481	MSR1	OMIM:614266
HP:0002664	Neoplasm	6049	RNF6	ORPHA:99977
HP:0002664	Neoplasm	6049	RNF6	OMIM:133239
HP:0002664	Neoplasm	9940	DLEC1	ORPHA:99977
HP:0002664	Neoplasm	11178	LZTS1	OMIM:133239
HP:0002664	Neoplasm	1630	DCC	OMIM:133239
HP:0002664	Neoplasm	57105	CYSLTR2	ORPHA:39044
HP:0002664	Neoplasm	2776	GNAQ	ORPHA:39044
HP:0002664	Neoplasm	2767	GNA11	ORPHA:39044
HP:0002664	Neoplasm	284252	KCTD1	OMIM:181270
HP:0002664	Neoplasm	4626	MYH8	OMIM:608837
HP:0002664	Neoplasm	1181	CLCN2	ORPHA:404
HP:0002664	Neoplasm	1585	CYP11B2	ORPHA:403
HP:0002664	Neoplasm	51726	DNAJB11	ORPHA:730
HP:0002664	Neoplasm	23193	GANAB	ORPHA:730
HP:0002664	Neoplasm	5310	PKD1	ORPHA:730
HP:0002664	Neoplasm	5311	PKD2	ORPHA:730
HP:0002664	Neoplasm	29880	ALG5	ORPHA:730
HP:0002664	Neoplasm	9742	IFT140	ORPHA:730
HP:0002664	Neoplasm	79796	ALG9	ORPHA:730
HP:0002664	Neoplasm	80114	BICC1	ORPHA:730
HP:0002664	Neoplasm	79659	DYNC2H1	OMIM:613091
HP:0002664	Neoplasm	153241	CEP120	OMIM:616300
HP:0002664	Neoplasm	84314	TMEM107	OMIM:617563
HP:0002664	Neoplasm	4750	NEK1	OMIM:263520
HP:0002664	Neoplasm	4750	NEK1	ORPHA:2751
HP:0002664	Neoplasm	26005	C2CD3	ORPHA:434179
HP:0002664	Neoplasm	26005	C2CD3	OMIM:615948
HP:0002664	Neoplasm	9786	KIAA0586	OMIM:616546
HP:0002664	Neoplasm	83479	DDX59	OMIM:174300
HP:0002664	Neoplasm	27152	INTU	OMIM:617925
HP:0002664	Neoplasm	1906	EDN1	ORPHA:137888
HP:0002664	Neoplasm	5332	PLCB4	ORPHA:137888
HP:0002664	Neoplasm	2773	GNAI3	ORPHA:137888
HP:0002664	Neoplasm	8462	KLF11	ORPHA:552
HP:0002664	Neoplasm	2645	GCK	ORPHA:552
HP:0002664	Neoplasm	26060	APPL1	ORPHA:552
HP:0002664	Neoplasm	640	BLK	ORPHA:552
HP:0002664	Neoplasm	1056	CEL	ORPHA:552
HP:0002664	Neoplasm	4760	NEUROD1	ORPHA:552
HP:0002664	Neoplasm	3651	PDX1	ORPHA:552
HP:0002664	Neoplasm	6833	ABCC8	ORPHA:552
HP:0002664	Neoplasm	5078	PAX4	ORPHA:552
HP:0002664	Neoplasm	3172	HNF4A	ORPHA:552
HP:0002664	Neoplasm	3630	INS	ORPHA:552
HP:0002664	Neoplasm	5256	PHKA2	ORPHA:264580
HP:0002664	Neoplasm	5261	PHKG2	ORPHA:264580
HP:0002664	Neoplasm	6134	RPL10	ORPHA:459070
HP:0002664	Neoplasm	6872	TAF1	ORPHA:480907
HP:0002664	Neoplasm	3854	KRT6B	OMIM:615728
HP:0002664	Neoplasm	3854	KRT6B	ORPHA:2309
HP:0002664	Neoplasm	3868	KRT16	ORPHA:2309
HP:0002664	Neoplasm	3853	KRT6A	ORPHA:2309
HP:0002664	Neoplasm	1308	COL17A1	ORPHA:79406
HP:0002664	Neoplasm	4312	MMP1	ORPHA:79408
HP:0002664	Neoplasm	1294	COL7A1	ORPHA:79408
HP:0002664	Neoplasm	1294	COL7A1	ORPHA:79409
HP:0002664	Neoplasm	1294	COL7A1	ORPHA:79410
HP:0002664	Neoplasm	1294	COL7A1	ORPHA:79411
HP:0002664	Neoplasm	3265	HRAS	OMIM:137550
HP:0002664	Neoplasm	3265	HRAS	ORPHA:2874
HP:0002664	Neoplasm	7852	CXCR4	ORPHA:51636
HP:0002664	Neoplasm	6660	SOX5	ORPHA:626
HP:0002664	Neoplasm	9839	ZEB2	ORPHA:626
HP:0002664	Neoplasm	4948	OCA2	ORPHA:79432
HP:0002664	Neoplasm	463	ZFHX3	OMIM:176807
HP:0002664	Neoplasm	4601	MXI1	OMIM:176807
HP:0002664	Neoplasm	6041	RNASEL	OMIM:601518
HP:0002664	Neoplasm	3553	IL1B	OMIM:613659
HP:0002664	Neoplasm	3557	IL1RN	OMIM:613659
HP:0002664	Neoplasm	1316	KLF6	OMIM:613659
HP:0002664	Neoplasm	6772	STAT1	ORPHA:391487
HP:0002664	Neoplasm	3604	TNFRSF9	OMIM:620282
HP:0002664	Neoplasm	50619	DEF6	OMIM:619573
HP:0002664	Neoplasm	8651	SOCS1	OMIM:619375
HP:0002664	Neoplasm	6925	TCF4	ORPHA:2896
HP:0002664	Neoplasm	200942	KLHDC8B	OMIM:236000
HP:0002664	Neoplasm	57217	TTC7A	OMIM:243150
HP:0002664	Neoplasm	330	BIRC3	ORPHA:52417
HP:0002664	Neoplasm	10892	MALT1	ORPHA:52417
HP:0002664	Neoplasm	27086	FOXP1	ORPHA:52417
HP:0002664	Neoplasm	23149	FCHO1	OMIM:619164
HP:0002664	Neoplasm	5788	PTPRC	OMIM:619924
HP:0002664	Neoplasm	10125	RASGRP1	OMIM:618534
HP:0002664	Neoplasm	22806	IKZF3	OMIM:619437
HP:0002664	Neoplasm	6016	RIT1	ORPHA:648
HP:0002664	Neoplasm	6237	RRAS	ORPHA:648
HP:0002664	Neoplasm	22808	MRAS	ORPHA:648
HP:0002664	Neoplasm	200734	SPRED2	ORPHA:648
HP:0002664	Neoplasm	6655	SOS2	ORPHA:648
HP:0002664	Neoplasm	5922	RASA2	ORPHA:648
HP:0002664	Neoplasm	23092	ARHGAP26	OMIM:607785
HP:0002664	Neoplasm	79058	ASPSCR1	OMIM:606243
HP:0002664	Neoplasm	2304	FOXE1	ORPHA:319487
HP:0002664	Neoplasm	3026	HABP2	ORPHA:319487
HP:0002664	Neoplasm	9562	MINPP1	ORPHA:319487
HP:0002664	Neoplasm	1385	CREB1	OMIM:612160
HP:0002664	Neoplasm	4507	MTAP	OMIM:112250
HP:0002664	Neoplasm	2165	F13B	ORPHA:331
HP:0002664	Neoplasm	2162	F13A1	ORPHA:331
HP:0002664	Neoplasm	6757	SSX2	OMIM:300813
HP:0002664	Neoplasm	64840	PORCN	ORPHA:2092
HP:0002664	Neoplasm	545	ATR	OMIM:614564
HP:0002664	Neoplasm	56246	MRAP	ORPHA:361
HP:0002664	Neoplasm	6770	STAR	ORPHA:361
HP:0002664	Neoplasm	4158	MC2R	ORPHA:361
HP:0002664	Neoplasm	23530	NNT	ORPHA:361
HP:0002664	Neoplasm	10587	TXNRD2	ORPHA:361
HP:0002664	Neoplasm	1584	CYP11B1	ORPHA:90795
HP:0002664	Neoplasm	10535	RNASEH2A	ORPHA:51
HP:0002664	Neoplasm	84153	RNASEH2C	ORPHA:51
HP:0002664	Neoplasm	25939	SAMHD1	ORPHA:51
HP:0002664	Neoplasm	79621	RNASEH2B	ORPHA:51
HP:0002664	Neoplasm	103	ADAR	ORPHA:51
HP:0002664	Neoplasm	11277	TREX1	ORPHA:51
HP:0002664	Neoplasm	100147744	RNU7-1	ORPHA:51
HP:0002664	Neoplasm	134353	LSM11	ORPHA:51
HP:0002664	Neoplasm	64135	IFIH1	ORPHA:51
HP:0002664	Neoplasm	54	ACP5	ORPHA:1855
HP:0002664	Neoplasm	137682	NDUFAF6	OMIM:618913
HP:0002664	Neoplasm	399	RHOH	OMIM:618307
HP:0002664	Neoplasm	1956	EGFR	OMIM:211980
HP:0002664	Neoplasm	5519	PPP2R1B	OMIM:211980
HP:0002664	Neoplasm	1326	MAP3K8	OMIM:211980
HP:0002664	Neoplasm	1548	CYP2A6	OMIM:211980
HP:0002664	Neoplasm	3659	IRF1	OMIM:211980
HP:0002664	Neoplasm	4194	MDM4	OMIM:618849
HP:0002664	Neoplasm	89970	RSPRY1	ORPHA:457395
HP:0002664	Neoplasm	2737	GLI3	ORPHA:672
HP:0002664	Neoplasm	1280	COL2A1	OMIM:609162
HP:0002664	Neoplasm	55553	SOX6	OMIM:618971
HP:0002664	Neoplasm	4773	NFATC2	OMIM:620232
HP:0002664	Neoplasm	8085	KMT2D	ORPHA:2322
HP:0002664	Neoplasm	7403	KDM6A	ORPHA:2322
HP:0002664	Neoplasm	56980	PRDM10	OMIM:620459
HP:0002664	Neoplasm	25978	CHMP2B	ORPHA:100070
HP:0002664	Neoplasm	5663	PSEN1	ORPHA:100070
HP:0002664	Neoplasm	2896	GRN	ORPHA:100070
HP:0002664	Neoplasm	54664	TMEM106B	ORPHA:100070
HP:0002664	Neoplasm	4137	MAPT	ORPHA:100070
HP:0002664	Neoplasm	54209	TREM2	ORPHA:100070
HP:0002664	Neoplasm	7415	VCP	ORPHA:100070
HP:0002664	Neoplasm	22861	NLRP1	OMIM:615225
HP:0002664	Neoplasm	284654	RSPO1	OMIM:610644
HP:0002664	Neoplasm	1027	CDKN1B	OMIM:610755
HP:0002664	Neoplasm	3110	MNX1	ORPHA:1552
HP:0002664	Neoplasm	56983	POGLUT1	ORPHA:79145
HP:0002664	Neoplasm	3852	KRT5	ORPHA:79145
HP:0002664	Neoplasm	23509	POFUT1	ORPHA:79145
HP:0002664	Neoplasm	920	CD4	OMIM:619238
HP:0002664	Neoplasm	490	ATP2B1	OMIM:619910
HP:0002664	Neoplasm	84868	HAVCR2	OMIM:618398
HP:0002664	Neoplasm	7046	TGFBR1	OMIM:609192
HP:0002664	Neoplasm	7046	TGFBR1	OMIM:132800
HP:0002664	Neoplasm	7174	TPP2	OMIM:619220
HP:0002664	Neoplasm	1908	EDN3	ORPHA:661
HP:0002664	Neoplasm	2668	GDNF	ORPHA:661
HP:0002664	Neoplasm	627	BDNF	ORPHA:661
HP:0002664	Neoplasm	10660	LBX1	ORPHA:661
HP:0002664	Neoplasm	283446	MYO1H	ORPHA:661
HP:0002664	Neoplasm	2048	EPHB2	OMIM:603688
HP:0002664	Neoplasm	161742	SPRED1	ORPHA:137605
HP:0002664	Neoplasm	4693	NDP	ORPHA:649
HP:0002664	Neoplasm	65998	ZFTA	ORPHA:251636
HP:0002664	Neoplasm	5573	PRKAR1A	ORPHA:1359
HP:0002664	Neoplasm	50940	PDE11A	ORPHA:1359
HP:0002664	Neoplasm	4854	NOTCH3	ORPHA:2591
HP:0002664	Neoplasm	5159	PDGFRB	ORPHA:2591
HP:0002664	Neoplasm	2130	EWSR1	ORPHA:83469
HP:0002664	Neoplasm	6389	SDHA	ORPHA:44890
HP:0002664	Neoplasm	5156	PDGFRA	ORPHA:44890
HP:0002664	Neoplasm	8200	GDF5	ORPHA:2098
HP:0002664	Neoplasm	658	BMPR1B	ORPHA:2098
HP:0002664	Neoplasm	2303	FOXC2	ORPHA:33001
HP:0002664	Neoplasm	25802	LMOD1	ORPHA:2241
HP:0002664	Neoplasm	4629	MYH11	ORPHA:2241
HP:0002664	Neoplasm	72	ACTG2	ORPHA:2241
HP:0002664	Neoplasm	4638	MYLK	ORPHA:2241
HP:0002664	Neoplasm	5774	PTPN3	ORPHA:70567
HP:0002664	Neoplasm	6098	ROS1	ORPHA:70567
HP:0002664	Neoplasm	410	ARSA	ORPHA:309271
HP:0002664	Neoplasm	5660	PSAP	ORPHA:309271
HP:0002664	Neoplasm	847	CAT	ORPHA:926
HP:0002664	Neoplasm	3339	HSPG2	ORPHA:800
HP:0002664	Neoplasm	10734	STAG3	OMIM:615723
HP:0002664	Neoplasm	50846	DHH	OMIM:233420
HP:0002664	Neoplasm	4486	MST1R	OMIM:617075
HP:0002664	Neoplasm	7528	YY1	ORPHA:97279
HP:0002664	Neoplasm	79798	ARMC5	ORPHA:189427
HP:0002664	Neoplasm	23028	KDM1A	ORPHA:189427
HP:0002664	Neoplasm	1788	DNMT3A	ORPHA:404443
HP:0002664	Neoplasm	23522	KAT6B	ORPHA:3047
HP:0002664	Neoplasm	4609	MYC	ORPHA:543
HP:0002664	Neoplasm	5324	PLAG1	OMIM:181030
HP:0002664	Neoplasm	5604	MAP2K1	OMIM:163950
HP:0002664	Neoplasm	6786	STIM1	OMIM:612783
HP:0002664	Neoplasm	7293	TNFRSF4	OMIM:615593
HP:0002664	Neoplasm	79651	RHBDF2	ORPHA:2198
HP:0002664	Neoplasm	538	ATP7A	ORPHA:198
HP:0002664	Neoplasm	538	ATP7A	OMIM:304150
HP:0002664	Neoplasm	538	ATP7A	ORPHA:565
HP:0002664	Neoplasm	5885	RAD21	OMIM:614701
HP:0002664	Neoplasm	5885	RAD21	ORPHA:502
HP:0002664	Neoplasm	176	ACAN	OMIM:165800
HP:0002664	Neoplasm	60529	ALX4	ORPHA:52022
HP:0002664	Neoplasm	51317	PHF21A	ORPHA:52022
HP:0002664	Neoplasm	7227	TRPS1	ORPHA:502
HP:0002664	Neoplasm	6473	SHOX	ORPHA:240
HP:0002664	Neoplasm	1302	COL11A2	ORPHA:166100
HP:0002664	Neoplasm	3858	KRT10	ORPHA:312
HP:0002664	Neoplasm	3848	KRT1	ORPHA:312
HP:0002664	Neoplasm	9508	ADAMTS3	ORPHA:2136
HP:0002664	Neoplasm	147372	CCBE1	ORPHA:2136
HP:0002664	Neoplasm	79633	FAT4	ORPHA:2136
HP:0002664	Neoplasm	51057	WDPCP	ORPHA:1338
HP:0002664	Neoplasm	2658	GDF2	ORPHA:774
HP:0002664	Neoplasm	94	ACVRL1	ORPHA:774
HP:0002664	Neoplasm	2022	ENG	ORPHA:774
HP:0002664	Neoplasm	1893	ECM1	ORPHA:530
HP:0002664	Neoplasm	8517	IKBKG	ORPHA:464
HP:0002664	Neoplasm	146206	CARMIL2	OMIM:618131
HP:0002664	Neoplasm	8547	FCN3	OMIM:613860
HP:0002664	Neoplasm	10625	IVNS1ABP	OMIM:618969
HP:0002664	Neoplasm	488	ATP2A2	ORPHA:79151
HP:0002664	Neoplasm	55072	RNF31	OMIM:620632
HP:0002664	Neoplasm	29927	SEC61A1	OMIM:620674
HP:0002664	Neoplasm	54440	SASH3	OMIM:301082
HP:0002664	Neoplasm	6929	TCF3	ORPHA:33110
HP:0002664	Neoplasm	7922	SLC39A7	ORPHA:33110
HP:0002664	Neoplasm	973	CD79A	ORPHA:33110
HP:0002664	Neoplasm	974	CD79B	ORPHA:33110
HP:0002664	Neoplasm	6688	SPI1	ORPHA:33110
HP:0002664	Neoplasm	3543	IGLL1	ORPHA:33110
HP:0002664	Neoplasm	3507	IGHM	ORPHA:33110
HP:0002664	Neoplasm	29760	BLNK	ORPHA:33110
HP:0002664	Neoplasm	56262	LRRC8A	ORPHA:33110
HP:0002664	Neoplasm	55262	TRAPPC14	OMIM:618351
HP:0002665	Lymphoma	3561	IL2RG	ORPHA:276
HP:0002665	Lymphoma	3561	IL2RG	ORPHA:39041
HP:0002665	Lymphoma	3981	LIG4	ORPHA:235
HP:0002665	Lymphoma	3981	LIG4	ORPHA:99812
HP:0002665	Lymphoma	3981	LIG4	ORPHA:39041
HP:0002665	Lymphoma	54888	NSUN2	ORPHA:235
HP:0002665	Lymphoma	5551	PRF1	OMIM:605027
HP:0002665	Lymphoma	8915	BCL10	OMIM:605027
HP:0002665	Lymphoma	25788	RAD54B	OMIM:605027
HP:0002665	Lymphoma	843	CASP10	OMIM:605027
HP:0002665	Lymphoma	8438	RAD54L	OMIM:605027
HP:0002665	Lymphoma	1493	CTLA4	ORPHA:436159
HP:0002665	Lymphoma	1493	CTLA4	ORPHA:3162
HP:0002665	Lymphoma	1493	CTLA4	ORPHA:2584
HP:0002665	Lymphoma	4683	NBN	OMIM:251260
HP:0002665	Lymphoma	4683	NBN	ORPHA:647
HP:0002665	Lymphoma	6023	RMRP	OMIM:250250
HP:0002665	Lymphoma	6023	RMRP	ORPHA:39041
HP:0002665	Lymphoma	9401	RECQL4	ORPHA:221016
HP:0002665	Lymphoma	9401	RECQL4	ORPHA:1225
HP:0002665	Lymphoma	4860	PNP	OMIM:613179
HP:0002665	Lymphoma	5238	PGM3	ORPHA:443811
HP:0002665	Lymphoma	171023	ASXL1	ORPHA:98849
HP:0002665	Lymphoma	54790	TET2	ORPHA:98849
HP:0002665	Lymphoma	54790	TET2	OMIM:619126
HP:0002665	Lymphoma	3815	KIT	ORPHA:98849
HP:0002665	Lymphoma	6427	SRSF2	ORPHA:98849
HP:0002665	Lymphoma	324	APC	ORPHA:99818
HP:0002665	Lymphoma	987	LRBA	OMIM:614700
HP:0002665	Lymphoma	7454	WAS	ORPHA:906
HP:0002665	Lymphoma	7456	WIPF1	ORPHA:906
HP:0002665	Lymphoma	5728	PTEN	ORPHA:109
HP:0002665	Lymphoma	5728	PTEN	ORPHA:397596
HP:0002665	Lymphoma	7518	XRCC4	ORPHA:99812
HP:0002665	Lymphoma	5925	RB1	OMIM:180200
HP:0002665	Lymphoma	55636	CHD7	ORPHA:39041
HP:0002665	Lymphoma	5896	RAG1	ORPHA:39041
HP:0002665	Lymphoma	5897	RAG2	ORPHA:39041
HP:0002665	Lymphoma	64421	DCLRE1C	ORPHA:39041
HP:0002665	Lymphoma	100	ADA	ORPHA:39041
HP:0002665	Lymphoma	3575	IL7R	ORPHA:39041
HP:0002665	Lymphoma	1776	DNASE1L3	ORPHA:36412
HP:0002665	Lymphoma	596	BCL2	ORPHA:545
HP:0002665	Lymphoma	3492	IGH	ORPHA:545
HP:0002665	Lymphoma	3123	HLA-DRB1	ORPHA:545
HP:0002665	Lymphoma	604	BCL6	ORPHA:545
HP:0002665	Lymphoma	1729	DIAPH1	ORPHA:477814
HP:0002665	Lymphoma	4893	NRAS	OMIM:614470
HP:0002665	Lymphoma	3845	KRAS	OMIM:614470
HP:0002665	Lymphoma	5293	PIK3CD	ORPHA:397596
HP:0002665	Lymphoma	5295	PIK3R1	ORPHA:397596
HP:0002665	Lymphoma	939	CD27	OMIM:615122
HP:0002665	Lymphoma	3832	KIF11	ORPHA:2526
HP:0002665	Lymphoma	641	BLM	OMIM:210900
HP:0002665	Lymphoma	641	BLM	ORPHA:125
HP:0002665	Lymphoma	472	ATM	OMIM:208900
HP:0002665	Lymphoma	4068	SH2D1A	OMIM:308240
HP:0002665	Lymphoma	331	XIAP	OMIM:308240
HP:0002665	Lymphoma	2956	MSH6	OMIM:619097
HP:0002665	Lymphoma	940	CD28	ORPHA:3162
HP:0002665	Lymphoma	940	CD28	ORPHA:2584
HP:0002665	Lymphoma	7133	TNFRSF1B	ORPHA:3162
HP:0002665	Lymphoma	7133	TNFRSF1B	ORPHA:2584
HP:0002665	Lymphoma	115650	TNFRSF13C	OMIM:240500
HP:0002665	Lymphoma	115650	TNFRSF13C	ORPHA:1572
HP:0002665	Lymphoma	29851	ICOS	OMIM:240500
HP:0002665	Lymphoma	29851	ICOS	ORPHA:1572
HP:0002665	Lymphoma	930	CD19	OMIM:240500
HP:0002665	Lymphoma	930	CD19	ORPHA:1572
HP:0002665	Lymphoma	23495	TNFRSF13B	OMIM:240500
HP:0002665	Lymphoma	23495	TNFRSF13B	ORPHA:1572
HP:0002665	Lymphoma	1380	CR2	OMIM:240500
HP:0002665	Lymphoma	1380	CR2	ORPHA:1572
HP:0002665	Lymphoma	84061	MAGT1	OMIM:300853
HP:0002665	Lymphoma	6774	STAT3	ORPHA:2314
HP:0002665	Lymphoma	3117	HLA-DQA1	OMIM:212750
HP:0002665	Lymphoma	3119	HLA-DQB1	OMIM:212750
HP:0002665	Lymphoma	3514	IGKC	ORPHA:183675
HP:0002665	Lymphoma	3501	IGHG2	ORPHA:183675
HP:0002665	Lymphoma	4292	MLH1	OMIM:276300
HP:0002665	Lymphoma	7157	TP53	ORPHA:524
HP:0002665	Lymphoma	1029	CDKN2A	ORPHA:524
HP:0002665	Lymphoma	4193	MDM2	ORPHA:524
HP:0002665	Lymphoma	11200	CHEK2	ORPHA:524
HP:0002665	Lymphoma	861	RUNX1	OMIM:601399
HP:0002665	Lymphoma	4615	MYD88	ORPHA:33226
HP:0002665	Lymphoma	4615	MYD88	OMIM:153600
HP:0002665	Lymphoma	51428	DDX41	OMIM:616871
HP:0002665	Lymphoma	8626	TP63	ORPHA:1896
HP:0002665	Lymphoma	80169	CTC1	ORPHA:1775
HP:0002665	Lymphoma	26277	TINF2	ORPHA:1775
HP:0002665	Lymphoma	55651	NHP2	ORPHA:1775
HP:0002665	Lymphoma	79650	USB1	ORPHA:1775
HP:0002665	Lymphoma	55135	WRAP53	ORPHA:1775
HP:0002665	Lymphoma	51750	RTEL1	ORPHA:1775
HP:0002665	Lymphoma	4869	NPM1	ORPHA:1775
HP:0002665	Lymphoma	7012	TERC	ORPHA:1775
HP:0002665	Lymphoma	55505	NOP10	ORPHA:1775
HP:0002665	Lymphoma	5073	PARN	ORPHA:1775
HP:0002665	Lymphoma	7015	TERT	ORPHA:1775
HP:0002665	Lymphoma	1736	DKC1	ORPHA:1775
HP:0002665	Lymphoma	7298	TYMS	ORPHA:1775
HP:0002665	Lymphoma	4790	NFKB1	ORPHA:1572
HP:0002665	Lymphoma	4791	NFKB2	ORPHA:1572
HP:0002665	Lymphoma	8742	TNFSF12	ORPHA:1572
HP:0002665	Lymphoma	931	MS4A1	ORPHA:1572
HP:0002665	Lymphoma	975	CD81	ORPHA:1572
HP:0002665	Lymphoma	359948	IRF2BP2	ORPHA:1572
HP:0002665	Lymphoma	7535	ZAP70	ORPHA:911
HP:0002665	Lymphoma	3604	TNFRSF9	OMIM:620282
HP:0002665	Lymphoma	970	CD70	OMIM:618261
HP:0002665	Lymphoma	355	FAS	ORPHA:3261
HP:0002665	Lymphoma	356	FASLG	ORPHA:3261
HP:0002665	Lymphoma	54894	RNF43	ORPHA:157798
HP:0002665	Lymphoma	3702	ITK	OMIM:613011
HP:0002665	Lymphoma	50619	DEF6	OMIM:619573
HP:0002665	Lymphoma	8651	SOCS1	OMIM:619375
HP:0002665	Lymphoma	6789	STK4	OMIM:614868
HP:0002665	Lymphoma	6925	TCF4	ORPHA:2896
HP:0002665	Lymphoma	200942	KLHDC8B	OMIM:236000
HP:0002665	Lymphoma	7373	COL14A1	ORPHA:79501
HP:0002665	Lymphoma	79719	AAGAB	ORPHA:79501
HP:0002665	Lymphoma	5426	POLE	OMIM:618336
HP:0002665	Lymphoma	57217	TTC7A	OMIM:243150
HP:0002665	Lymphoma	6850	SYK	OMIM:619381
HP:0002665	Lymphoma	595	CCND1	ORPHA:52416
HP:0002665	Lymphoma	330	BIRC3	ORPHA:52417
HP:0002665	Lymphoma	10892	MALT1	ORPHA:52417
HP:0002665	Lymphoma	27086	FOXP1	ORPHA:52417
HP:0002665	Lymphoma	23149	FCHO1	OMIM:619164
HP:0002665	Lymphoma	5788	PTPRC	OMIM:619924
HP:0002665	Lymphoma	10125	RASGRP1	OMIM:618534
HP:0002665	Lymphoma	22806	IKZF3	OMIM:619437
HP:0002665	Lymphoma	6778	STAT6	OMIM:620532
HP:0002665	Lymphoma	4773	NFATC2	OMIM:620232
HP:0002665	Lymphoma	50485	SMARCAL1	ORPHA:1830
HP:0002665	Lymphoma	4913	NTHL1	ORPHA:454840
HP:0002665	Lymphoma	5395	PMS2	OMIM:619101
HP:0002665	Lymphoma	399	RHOH	OMIM:618307
HP:0002665	Lymphoma	4609	MYC	OMIM:113970
HP:0002665	Lymphoma	84868	HAVCR2	OMIM:618398
HP:0002666	Pheochromocytoma	5979	RET	OMIM:162300
HP:0002666	Pheochromocytoma	5979	RET	OMIM:171400
HP:0002666	Pheochromocytoma	5979	RET	OMIM:171300
HP:0002666	Pheochromocytoma	5573	PRKAR1A	OMIM:160980
HP:0002666	Pheochromocytoma	4221	MEN1	ORPHA:652
HP:0002666	Pheochromocytoma	1027	CDKN1B	ORPHA:652
HP:0002666	Pheochromocytoma	1026	CDKN1A	ORPHA:652
HP:0002666	Pheochromocytoma	1030	CDKN2B	ORPHA:652
HP:0002666	Pheochromocytoma	1031	CDKN2C	ORPHA:652
HP:0002666	Pheochromocytoma	4763	NF1	OMIM:162200
HP:0002666	Pheochromocytoma	4763	NF1	ORPHA:97685
HP:0002666	Pheochromocytoma	1743	DLST	OMIM:618475
HP:0002666	Pheochromocytoma	55654	TMEM127	OMIM:171300
HP:0002666	Pheochromocytoma	4149	MAX	OMIM:171300
HP:0002666	Pheochromocytoma	7428	VHL	OMIM:171300
HP:0002666	Pheochromocytoma	7428	VHL	OMIM:193300
HP:0002666	Pheochromocytoma	595	CCND1	OMIM:193300
HP:0002666	Pheochromocytoma	3458	IFNG	ORPHA:805
HP:0002666	Pheochromocytoma	7248	TSC1	ORPHA:805
HP:0002666	Pheochromocytoma	7249	TSC2	ORPHA:805
HP:0002666	Pheochromocytoma	3265	HRAS	ORPHA:2874
HP:0002666	Pheochromocytoma	4191	MDH2	ORPHA:29072
HP:0002666	Pheochromocytoma	6389	SDHA	ORPHA:29072
HP:0002666	Pheochromocytoma	23095	KIF1B	ORPHA:29072
HP:0002666	Pheochromocytoma	2271	FH	ORPHA:29072
HP:0002666	Pheochromocytoma	8402	SLC25A11	ORPHA:29072
HP:0002666	Pheochromocytoma	54949	SDHAF2	ORPHA:29072
HP:0002666	Pheochromocytoma	6391	SDHC	ORPHA:29072
HP:0002666	Pheochromocytoma	6391	SDHC	OMIM:605373
HP:0002666	Pheochromocytoma	6392	SDHD	ORPHA:29072
HP:0002666	Pheochromocytoma	6392	SDHD	OMIM:168000
HP:0002666	Pheochromocytoma	6392	SDHD	ORPHA:276621
HP:0002666	Pheochromocytoma	6390	SDHB	ORPHA:29072
HP:0002666	Pheochromocytoma	6390	SDHB	ORPHA:276621
HP:0002666	Pheochromocytoma	6390	SDHB	OMIM:115310
HP:0002666	Pheochromocytoma	1788	DNMT3A	ORPHA:276621
HP:0002666	Pheochromocytoma	2034	EPAS1	ORPHA:276621
HP:0002667	Nephroblastoma	5290	PIK3CA	OMIM:612918
HP:0002667	Nephroblastoma	5290	PIK3CA	ORPHA:276280
HP:0002667	Nephroblastoma	5290	PIK3CA	OMIM:602501
HP:0002667	Nephroblastoma	5290	PIK3CA	ORPHA:140944
HP:0002667	Nephroblastoma	129563	DIS3L2	OMIM:267000
HP:0002667	Nephroblastoma	129563	DIS3L2	ORPHA:2849
HP:0002667	Nephroblastoma	129563	DIS3L2	ORPHA:654
HP:0002667	Nephroblastoma	11281	POU6F2	OMIM:601583
HP:0002667	Nephroblastoma	11281	POU6F2	ORPHA:654
HP:0002667	Nephroblastoma	23405	DICER1	OMIM:180295
HP:0002667	Nephroblastoma	23405	DICER1	OMIM:618272
HP:0002667	Nephroblastoma	716	C1S	OMIM:617174
HP:0002667	Nephroblastoma	9158	FIBP	ORPHA:500095
HP:0002667	Nephroblastoma	9158	FIBP	OMIM:617107
HP:0002667	Nephroblastoma	9759	HDAC4	ORPHA:1001
HP:0002667	Nephroblastoma	5978	REST	OMIM:616806
HP:0002667	Nephroblastoma	5978	REST	ORPHA:654
HP:0002667	Nephroblastoma	7490	WT1	ORPHA:347
HP:0002667	Nephroblastoma	7490	WT1	ORPHA:220
HP:0002667	Nephroblastoma	7490	WT1	ORPHA:654
HP:0002667	Nephroblastoma	7490	WT1	OMIM:256370
HP:0002667	Nephroblastoma	7490	WT1	OMIM:194080
HP:0002667	Nephroblastoma	7490	WT1	ORPHA:251510
HP:0002667	Nephroblastoma	7490	WT1	OMIM:194072
HP:0002667	Nephroblastoma	7490	WT1	OMIM:194070
HP:0002667	Nephroblastoma	2132	EXT2	ORPHA:52022
HP:0002667	Nephroblastoma	60529	ALX4	ORPHA:52022
HP:0002667	Nephroblastoma	51317	PHF21A	ORPHA:52022
HP:0002667	Nephroblastoma	79577	CDC73	ORPHA:143
HP:0002667	Nephroblastoma	79577	CDC73	OMIM:145001
HP:0002667	Nephroblastoma	79577	CDC73	ORPHA:99880
HP:0002667	Nephroblastoma	675	BRCA2	OMIM:613029
HP:0002667	Nephroblastoma	675	BRCA2	ORPHA:654
HP:0002667	Nephroblastoma	675	BRCA2	OMIM:194070
HP:0002667	Nephroblastoma	79728	PALB2	OMIM:610832
HP:0002667	Nephroblastoma	9319	TRIP13	ORPHA:654
HP:0002667	Nephroblastoma	9319	TRIP13	OMIM:617598
HP:0002667	Nephroblastoma	9319	TRIP13	ORPHA:1052
HP:0002667	Nephroblastoma	10155	TRIM28	ORPHA:654
HP:0002667	Nephroblastoma	2719	GPC3	ORPHA:654
HP:0002667	Nephroblastoma	2719	GPC3	ORPHA:373
HP:0002667	Nephroblastoma	2719	GPC3	OMIM:312870
HP:0002667	Nephroblastoma	2719	GPC3	OMIM:194070
HP:0002667	Nephroblastoma	283120	H19	ORPHA:654
HP:0002667	Nephroblastoma	283120	H19	ORPHA:2128
HP:0002667	Nephroblastoma	283120	H19	OMIM:194070
HP:0002667	Nephroblastoma	3481	IGF2	ORPHA:2128
HP:0002667	Nephroblastoma	3481	IGF2	OMIM:130650
HP:0002667	Nephroblastoma	3481	IGF2	OMIM:180860
HP:0002667	Nephroblastoma	3481	IGF2	OMIM:194070
HP:0002667	Nephroblastoma	10984	KCNQ1OT1	ORPHA:2128
HP:0002667	Nephroblastoma	10984	KCNQ1OT1	OMIM:130650
HP:0002667	Nephroblastoma	2239	GPC4	ORPHA:373
HP:0002667	Nephroblastoma	2239	GPC4	OMIM:312870
HP:0002667	Nephroblastoma	2239	GPC4	OMIM:194070
HP:0002667	Nephroblastoma	1028	CDKN1C	OMIM:130650
HP:0002667	Nephroblastoma	3784	KCNQ1	OMIM:130650
HP:0002667	Nephroblastoma	7157	TP53	OMIM:151623
HP:0002667	Nephroblastoma	3265	HRAS	ORPHA:2874
HP:0002667	Nephroblastoma	701	BUB1B	OMIM:257300
HP:0002667	Nephroblastoma	701	BUB1B	ORPHA:1052
HP:0002667	Nephroblastoma	5727	PTCH1	ORPHA:77301
HP:0002667	Nephroblastoma	641	BLM	ORPHA:125
HP:0002667	Nephroblastoma	171023	ASXL1	ORPHA:97297
HP:0002667	Nephroblastoma	9184	BUB3	ORPHA:1052
HP:0002667	Nephroblastoma	699	BUB1	ORPHA:1052
HP:0002667	Nephroblastoma	9702	CEP57	ORPHA:1052
HP:0002667	Nephroblastoma	4591	TRIM37	OMIM:253250
HP:0002667	Nephroblastoma	6662	SOX9	ORPHA:251510
HP:0002667	Nephroblastoma	6845	VAMP7	ORPHA:251510
HP:0002667	Nephroblastoma	51741	WWOX	ORPHA:251510
HP:0002667	Nephroblastoma	4214	MAP3K1	ORPHA:251510
HP:0002667	Nephroblastoma	2516	NR5A1	ORPHA:251510
HP:0002667	Nephroblastoma	57647	DHX37	ORPHA:251510
HP:0002667	Nephroblastoma	6736	SRY	ORPHA:251510
HP:0002667	Nephroblastoma	23414	ZFPM2	ORPHA:251510
HP:0002667	Nephroblastoma	190	NR0B1	ORPHA:251510
HP:0002667	Nephroblastoma	2626	GATA4	ORPHA:251510
HP:0002667	Nephroblastoma	161742	SPRED1	ORPHA:137605
HP:0002667	Nephroblastoma	5080	PAX6	OMIM:194072
HP:0002667	Nephroblastoma	26040	SETBP1	ORPHA:798
HP:0002668	Paraganglioma	7428	VHL	ORPHA:892
HP:0002668	Paraganglioma	7428	VHL	ORPHA:29072
HP:0002668	Paraganglioma	7428	VHL	OMIM:193300
HP:0002668	Paraganglioma	7428	VHL	ORPHA:276621
HP:0002668	Paraganglioma	595	CCND1	ORPHA:892
HP:0002668	Paraganglioma	595	CCND1	OMIM:193300
HP:0002668	Paraganglioma	6390	SDHB	OMIM:606864
HP:0002668	Paraganglioma	6390	SDHB	ORPHA:97286
HP:0002668	Paraganglioma	6390	SDHB	OMIM:115310
HP:0002668	Paraganglioma	6390	SDHB	ORPHA:29072
HP:0002668	Paraganglioma	6390	SDHB	ORPHA:276621
HP:0002668	Paraganglioma	6391	SDHC	OMIM:606864
HP:0002668	Paraganglioma	6391	SDHC	ORPHA:97286
HP:0002668	Paraganglioma	6391	SDHC	ORPHA:29072
HP:0002668	Paraganglioma	6391	SDHC	OMIM:605373
HP:0002668	Paraganglioma	6392	SDHD	OMIM:606864
HP:0002668	Paraganglioma	6392	SDHD	ORPHA:97286
HP:0002668	Paraganglioma	6392	SDHD	ORPHA:29072
HP:0002668	Paraganglioma	6392	SDHD	ORPHA:100093
HP:0002668	Paraganglioma	6392	SDHD	ORPHA:276621
HP:0002668	Paraganglioma	546	ATRX	ORPHA:100075
HP:0002668	Paraganglioma	8402	SLC25A11	OMIM:618464
HP:0002668	Paraganglioma	8402	SLC25A11	ORPHA:29072
HP:0002668	Paraganglioma	1743	DLST	OMIM:618475
HP:0002668	Paraganglioma	1743	DLST	ORPHA:29072
HP:0002668	Paraganglioma	6389	SDHA	OMIM:614165
HP:0002668	Paraganglioma	6389	SDHA	ORPHA:29072
HP:0002668	Paraganglioma	4191	MDH2	ORPHA:29072
HP:0002668	Paraganglioma	5979	RET	ORPHA:29072
HP:0002668	Paraganglioma	5979	RET	ORPHA:276621
HP:0002668	Paraganglioma	23095	KIF1B	ORPHA:29072
HP:0002668	Paraganglioma	2271	FH	ORPHA:29072
HP:0002668	Paraganglioma	54949	SDHAF2	ORPHA:29072
HP:0002668	Paraganglioma	55654	TMEM127	ORPHA:29072
HP:0002668	Paraganglioma	4763	NF1	ORPHA:29072
HP:0002668	Paraganglioma	4149	MAX	ORPHA:29072
HP:0002668	Paraganglioma	1788	DNMT3A	ORPHA:276621
HP:0002668	Paraganglioma	2034	EPAS1	ORPHA:276621
HP:0002669	Osteosarcoma	9401	RECQL4	OMIM:268400
HP:0002669	Osteosarcoma	9401	RECQL4	ORPHA:1225
HP:0002669	Osteosarcoma	9401	RECQL4	ORPHA:221016
HP:0002669	Osteosarcoma	55027	HEATR3	OMIM:620072
HP:0002669	Osteosarcoma	55027	HEATR3	ORPHA:124
HP:0002669	Osteosarcoma	6138	RPL15	ORPHA:124
HP:0002669	Osteosarcoma	6224	RPS20	ORPHA:124
HP:0002669	Osteosarcoma	6165	RPL35A	ORPHA:124
HP:0002669	Osteosarcoma	6132	RPL8	ORPHA:124
HP:0002669	Osteosarcoma	6223	RPS19	ORPHA:124
HP:0002669	Osteosarcoma	6223	RPS19	OMIM:105650
HP:0002669	Osteosarcoma	6232	RPS27	ORPHA:124
HP:0002669	Osteosarcoma	6160	RPL31	ORPHA:124
HP:0002669	Osteosarcoma	6201	RPS7	ORPHA:124
HP:0002669	Osteosarcoma	6155	RPL27	ORPHA:124
HP:0002669	Osteosarcoma	6234	RPS28	ORPHA:124
HP:0002669	Osteosarcoma	6135	RPL11	ORPHA:124
HP:0002669	Osteosarcoma	6229	RPS24	ORPHA:124
HP:0002669	Osteosarcoma	6125	RPL5	ORPHA:124
HP:0002669	Osteosarcoma	6204	RPS10	ORPHA:124
HP:0002669	Osteosarcoma	2623	GATA1	ORPHA:124
HP:0002669	Osteosarcoma	6133	RPL9	ORPHA:124
HP:0002669	Osteosarcoma	6231	RPS26	ORPHA:124
HP:0002669	Osteosarcoma	11224	RPL35	ORPHA:124
HP:0002669	Osteosarcoma	6218	RPS17	ORPHA:124
HP:0002669	Osteosarcoma	6154	RPL26	ORPHA:124
HP:0002669	Osteosarcoma	6210	RPS15A	ORPHA:124
HP:0002669	Osteosarcoma	90121	TSR2	ORPHA:124
HP:0002669	Osteosarcoma	6141	RPL18	ORPHA:124
HP:0002669	Osteosarcoma	6235	RPS29	ORPHA:124
HP:0002669	Osteosarcoma	51816	ADA2	ORPHA:124
HP:0002669	Osteosarcoma	4507	MTAP	OMIM:112250
HP:0002669	Osteosarcoma	7157	TP53	OMIM:151623
HP:0002669	Osteosarcoma	7157	TP53	OMIM:260500
HP:0002669	Osteosarcoma	7157	TP53	ORPHA:524
HP:0002669	Osteosarcoma	7157	TP53	OMIM:259500
HP:0002669	Osteosarcoma	8878	SQSTM1	OMIM:167250
HP:0002669	Osteosarcoma	7486	WRN	OMIM:277700
HP:0002669	Osteosarcoma	4000	LMNA	ORPHA:79474
HP:0002669	Osteosarcoma	5925	RB1	OMIM:180200
HP:0002669	Osteosarcoma	5925	RB1	OMIM:259500
HP:0002669	Osteosarcoma	1029	CDKN2A	ORPHA:524
HP:0002669	Osteosarcoma	4193	MDM2	ORPHA:524
HP:0002669	Osteosarcoma	11200	CHEK2	ORPHA:524
HP:0002669	Osteosarcoma	11200	CHEK2	OMIM:259500
HP:0002669	Osteosarcoma	64682	ANAPC1	ORPHA:221008
HP:0041076	Abnormal immunoglobulin level in body fluid	6651	SON	ORPHA:500150
HP:0041079	Decreased body fat percentage	5130	PCYT1A	OMIM:620680
HP:0041078	Decreased immunoglobulin level in body fluid	6651	SON	ORPHA:500150
HP:0041059	Chronic (near) absent circulating IgG4	1380	CR2	OMIM:614699
HP:0041080	Abnormal proportion of exhausted T cells	399	RHOH	OMIM:618307
HP:0002671	Basal cell carcinoma	4292	MLH1	OMIM:158320
HP:0002671	Basal cell carcinoma	4292	MLH1	ORPHA:144
HP:0002671	Basal cell carcinoma	4292	MLH1	OMIM:276300
HP:0002671	Basal cell carcinoma	4436	MSH2	OMIM:158320
HP:0002671	Basal cell carcinoma	4436	MSH2	ORPHA:144
HP:0002671	Basal cell carcinoma	355	FAS	ORPHA:3261
HP:0002671	Basal cell carcinoma	356	FASLG	ORPHA:3261
HP:0002671	Basal cell carcinoma	843	CASP10	ORPHA:3261
HP:0002671	Basal cell carcinoma	80326	WNT10A	OMIM:224750
HP:0002671	Basal cell carcinoma	80326	WNT10A	ORPHA:50944
HP:0002671	Basal cell carcinoma	10519	CIB1	OMIM:618267
HP:0002671	Basal cell carcinoma	1643	DDB2	OMIM:278740
HP:0002671	Basal cell carcinoma	6023	RMRP	OMIM:250250
HP:0002671	Basal cell carcinoma	9401	RECQL4	ORPHA:221016
HP:0002671	Basal cell carcinoma	9401	RECQL4	OMIM:268400
HP:0002671	Basal cell carcinoma	324	APC	ORPHA:99818
HP:0002671	Basal cell carcinoma	6608	SMO	OMIM:605462
HP:0002671	Basal cell carcinoma	5727	PTCH1	OMIM:605462
HP:0002671	Basal cell carcinoma	5727	PTCH1	ORPHA:377
HP:0002671	Basal cell carcinoma	5727	PTCH1	ORPHA:77301
HP:0002671	Basal cell carcinoma	5727	PTCH1	OMIM:109400
HP:0002671	Basal cell carcinoma	5921	RASA1	OMIM:605462
HP:0002671	Basal cell carcinoma	8643	PTCH2	OMIM:605462
HP:0002671	Basal cell carcinoma	8643	PTCH2	ORPHA:377
HP:0002671	Basal cell carcinoma	1540	CYLD	ORPHA:867
HP:0002671	Basal cell carcinoma	1540	CYLD	OMIM:601606
HP:0002671	Basal cell carcinoma	4893	NRAS	OMIM:163200
HP:0002671	Basal cell carcinoma	3845	KRAS	OMIM:163200
HP:0002671	Basal cell carcinoma	3845	KRAS	ORPHA:144
HP:0002671	Basal cell carcinoma	3265	HRAS	OMIM:163200
HP:0002671	Basal cell carcinoma	3265	HRAS	ORPHA:2874
HP:0002671	Basal cell carcinoma	51684	SUFU	OMIM:620343
HP:0002671	Basal cell carcinoma	51684	SUFU	ORPHA:377
HP:0002671	Basal cell carcinoma	7373	COL14A1	ORPHA:79501
HP:0002671	Basal cell carcinoma	79719	AAGAB	ORPHA:79501
HP:0002671	Basal cell carcinoma	4072	EPCAM	ORPHA:144
HP:0002671	Basal cell carcinoma	5395	PMS2	ORPHA:144
HP:0002671	Basal cell carcinoma	7048	TGFBR2	ORPHA:144
HP:0002671	Basal cell carcinoma	5290	PIK3CA	ORPHA:144
HP:0002671	Basal cell carcinoma	2956	MSH6	ORPHA:144
HP:0002671	Basal cell carcinoma	5378	PMS1	ORPHA:144
HP:0002671	Basal cell carcinoma	1308	COL17A1	ORPHA:79406
HP:0002671	Basal cell carcinoma	4312	MMP1	ORPHA:79408
HP:0002671	Basal cell carcinoma	1294	COL7A1	ORPHA:79408
HP:0002671	Basal cell carcinoma	1294	COL7A1	ORPHA:79409
HP:0002671	Basal cell carcinoma	1294	COL7A1	ORPHA:79410
HP:0002671	Basal cell carcinoma	1294	COL7A1	ORPHA:79411
HP:0002671	Basal cell carcinoma	11322	TMC6	OMIM:226400
HP:0002671	Basal cell carcinoma	64218	SEMA4A	ORPHA:440437
HP:0002671	Basal cell carcinoma	472	ATM	ORPHA:440437
HP:0002671	Basal cell carcinoma	5426	POLE	ORPHA:440437
HP:0002671	Basal cell carcinoma	675	BRCA2	ORPHA:440437
HP:0002671	Basal cell carcinoma	657	BMPR1A	ORPHA:440437
HP:0002671	Basal cell carcinoma	6224	RPS20	ORPHA:440437
HP:0002671	Basal cell carcinoma	4595	MUTYH	ORPHA:440437
HP:0002671	Basal cell carcinoma	5424	POLD1	ORPHA:440437
HP:0002671	Basal cell carcinoma	11200	CHEK2	ORPHA:440437
HP:0002671	Basal cell carcinoma	2304	FOXE1	OMIM:616534
HP:0002671	Basal cell carcinoma	5429	POLH	OMIM:278750
HP:0002671	Basal cell carcinoma	5429	POLH	ORPHA:90342
HP:0002671	Basal cell carcinoma	2068	ERCC2	ORPHA:220295
HP:0002671	Basal cell carcinoma	2068	ERCC2	OMIM:601675
HP:0002671	Basal cell carcinoma	2073	ERCC5	ORPHA:220295
HP:0002671	Basal cell carcinoma	2072	ERCC4	ORPHA:220295
HP:0002671	Basal cell carcinoma	2072	ERCC4	OMIM:278760
HP:0002671	Basal cell carcinoma	2071	ERCC3	ORPHA:220295
HP:0002671	Basal cell carcinoma	2071	ERCC3	OMIM:610651
HP:0002671	Basal cell carcinoma	4913	NTHL1	OMIM:616415
HP:0002671	Basal cell carcinoma	4913	NTHL1	ORPHA:454840
HP:0002671	Basal cell carcinoma	7298	TYMS	OMIM:620040
HP:0002671	Basal cell carcinoma	7508	XPC	OMIM:278720
HP:0002671	Basal cell carcinoma	6223	RPS19	OMIM:105650
HP:0002671	Basal cell carcinoma	4000	LMNA	ORPHA:363618
HP:0002671	Basal cell carcinoma	7299	TYR	ORPHA:79431
HP:0002671	Basal cell carcinoma	7299	TYR	ORPHA:79434
HP:0002671	Basal cell carcinoma	9817	KEAP1	ORPHA:276399
HP:0002671	Basal cell carcinoma	23405	DICER1	ORPHA:276399
HP:0002671	Basal cell carcinoma	4157	MC1R	ORPHA:79432
HP:0002671	Basal cell carcinoma	4948	OCA2	ORPHA:79432
HP:0002671	Basal cell carcinoma	64682	ANAPC1	ORPHA:221008
HP:0002672	Gastrointestinal carcinoma	6794	STK11	ORPHA:2869
HP:0002672	Gastrointestinal carcinoma	6794	STK11	OMIM:175200
HP:0002672	Gastrointestinal carcinoma	324	APC	ORPHA:247806
HP:0002672	Gastrointestinal carcinoma	324	APC	ORPHA:79665
HP:0002672	Gastrointestinal carcinoma	7486	WRN	ORPHA:902
HP:0002672	Gastrointestinal carcinoma	4089	SMAD4	OMIM:175050
HP:0002672	Gastrointestinal carcinoma	4072	EPCAM	OMIM:613244
HP:0002672	Gastrointestinal carcinoma	699	BUB1	OMIM:114500
HP:0002672	Gastrointestinal carcinoma	581	BAX	OMIM:114500
HP:0002672	Gastrointestinal carcinoma	25788	RAD54B	OMIM:114500
HP:0002672	Gastrointestinal carcinoma	5795	PTPRJ	OMIM:114500
HP:0002672	Gastrointestinal carcinoma	5157	PDGFRL	OMIM:114500
HP:0002672	Gastrointestinal carcinoma	1630	DCC	OMIM:114500
HP:0002672	Gastrointestinal carcinoma	207	AKT1	OMIM:114500
HP:0002672	Gastrointestinal carcinoma	7157	TP53	OMIM:114500
HP:0002672	Gastrointestinal carcinoma	673	BRAF	OMIM:114500
HP:0002672	Gastrointestinal carcinoma	10395	DLC1	OMIM:114500
HP:0002672	Gastrointestinal carcinoma	8313	AXIN2	OMIM:114500
HP:0002672	Gastrointestinal carcinoma	4163	MCC	OMIM:114500
HP:0002672	Gastrointestinal carcinoma	2261	FGFR3	OMIM:114500
HP:0002672	Gastrointestinal carcinoma	201163	FLCN	OMIM:114500
HP:0002672	Gastrointestinal carcinoma	595	CCND1	OMIM:114500
HP:0002672	Gastrointestinal carcinoma	7097	TLR2	OMIM:114500
HP:0002672	Gastrointestinal carcinoma	6714	SRC	OMIM:114500
HP:0002672	Gastrointestinal carcinoma	2033	EP300	OMIM:114500
HP:0002672	Gastrointestinal carcinoma	27030	MLH3	OMIM:114500
HP:0002672	Gastrointestinal carcinoma	27030	MLH3	OMIM:614385
HP:0002672	Gastrointestinal carcinoma	5320	PLA2G2A	OMIM:114500
HP:0002672	Gastrointestinal carcinoma	1499	CTNNB1	OMIM:114500
HP:0002672	Gastrointestinal carcinoma	6790	AURKA	OMIM:114500
HP:0002672	Gastrointestinal carcinoma	4893	NRAS	OMIM:114500
HP:0002672	Gastrointestinal carcinoma	701	BUB1B	OMIM:114500
HP:0002672	Gastrointestinal carcinoma	5782	PTPN12	OMIM:114500
HP:0002672	Gastrointestinal carcinoma	5290	PIK3CA	OMIM:114500
HP:0002672	Gastrointestinal carcinoma	5395	PMS2	OMIM:614337
HP:0002672	Gastrointestinal carcinoma	5424	POLD1	OMIM:612591
HP:0002672	Gastrointestinal carcinoma	7048	TGFBR2	OMIM:614331
HP:0002672	Gastrointestinal carcinoma	2956	MSH6	OMIM:614350
HP:0002672	Gastrointestinal carcinoma	4436	MSH2	OMIM:158320
HP:0002672	Gastrointestinal carcinoma	4913	NTHL1	OMIM:616415
HP:0002672	Gastrointestinal carcinoma	4913	NTHL1	ORPHA:454840
HP:0002672	Gastrointestinal carcinoma	657	BMPR1A	OMIM:174900
HP:0002672	Gastrointestinal carcinoma	657	BMPR1A	ORPHA:157794
HP:0002672	Gastrointestinal carcinoma	26585	GREM1	ORPHA:157794
HP:0002672	Gastrointestinal carcinoma	4292	MLH1	OMIM:276300
HP:0002672	Gastrointestinal carcinoma	7373	COL14A1	ORPHA:79501
HP:0002672	Gastrointestinal carcinoma	79719	AAGAB	ORPHA:79501
HP:0002672	Gastrointestinal carcinoma	2859	GPR35	ORPHA:171
HP:0002672	Gastrointestinal carcinoma	10507	SEMA4D	ORPHA:171
HP:0002672	Gastrointestinal carcinoma	4485	MST1	ORPHA:171
HP:0002672	Gastrointestinal carcinoma	6925	TCF4	ORPHA:171
HP:0002672	Gastrointestinal carcinoma	4595	MUTYH	ORPHA:247798
HP:0002672	Gastrointestinal carcinoma	6138	RPL15	ORPHA:124
HP:0002672	Gastrointestinal carcinoma	6224	RPS20	ORPHA:124
HP:0002672	Gastrointestinal carcinoma	6165	RPL35A	ORPHA:124
HP:0002672	Gastrointestinal carcinoma	6132	RPL8	ORPHA:124
HP:0002672	Gastrointestinal carcinoma	6223	RPS19	ORPHA:124
HP:0002672	Gastrointestinal carcinoma	6232	RPS27	ORPHA:124
HP:0002672	Gastrointestinal carcinoma	55027	HEATR3	ORPHA:124
HP:0002672	Gastrointestinal carcinoma	6160	RPL31	ORPHA:124
HP:0002672	Gastrointestinal carcinoma	6201	RPS7	ORPHA:124
HP:0002672	Gastrointestinal carcinoma	6155	RPL27	ORPHA:124
HP:0002672	Gastrointestinal carcinoma	6234	RPS28	ORPHA:124
HP:0002672	Gastrointestinal carcinoma	6135	RPL11	ORPHA:124
HP:0002672	Gastrointestinal carcinoma	6229	RPS24	ORPHA:124
HP:0002672	Gastrointestinal carcinoma	6125	RPL5	ORPHA:124
HP:0002672	Gastrointestinal carcinoma	6204	RPS10	ORPHA:124
HP:0002672	Gastrointestinal carcinoma	2623	GATA1	ORPHA:124
HP:0002672	Gastrointestinal carcinoma	6133	RPL9	ORPHA:124
HP:0002672	Gastrointestinal carcinoma	6231	RPS26	ORPHA:124
HP:0002672	Gastrointestinal carcinoma	11224	RPL35	ORPHA:124
HP:0002672	Gastrointestinal carcinoma	6218	RPS17	ORPHA:124
HP:0002672	Gastrointestinal carcinoma	6154	RPL26	ORPHA:124
HP:0002672	Gastrointestinal carcinoma	6210	RPS15A	ORPHA:124
HP:0002672	Gastrointestinal carcinoma	90121	TSR2	ORPHA:124
HP:0002672	Gastrointestinal carcinoma	6141	RPL18	ORPHA:124
HP:0002672	Gastrointestinal carcinoma	6235	RPS29	ORPHA:124
HP:0002672	Gastrointestinal carcinoma	51816	ADA2	ORPHA:124
HP:0002672	Gastrointestinal carcinoma	5426	POLE	ORPHA:447877
HP:0002672	Gastrointestinal carcinoma	8379	MAD1L1	OMIM:620189
HP:0002673	Coxa valga	5573	PRKAR1A	ORPHA:950
HP:0002673	Coxa valga	5144	PDE4D	ORPHA:950
HP:0002673	Coxa valga	64374	SIL1	OMIM:248800
HP:0002673	Coxa valga	64374	SIL1	ORPHA:559
HP:0002673	Coxa valga	1280	COL2A1	OMIM:132450
HP:0002673	Coxa valga	1280	COL2A1	OMIM:616583
HP:0002673	Coxa valga	7355	SLC35A2	ORPHA:356961
HP:0002673	Coxa valga	4897	NRCAM	OMIM:619833
HP:0002673	Coxa valga	347734	SLC35B2	OMIM:620269
HP:0002673	Coxa valga	2720	GLB1	OMIM:230600
HP:0002673	Coxa valga	2720	GLB1	OMIM:253010
HP:0002673	Coxa valga	538	ATP7A	OMIM:304150
HP:0002673	Coxa valga	538	ATP7A	ORPHA:198
HP:0002673	Coxa valga	546	ATRX	OMIM:301040
HP:0002673	Coxa valga	6473	SHOX	OMIM:127300
HP:0002673	Coxa valga	55593	OTUD5	OMIM:301056
HP:0002673	Coxa valga	65267	WNK3	OMIM:309610
HP:0002673	Coxa valga	613	BCR	ORPHA:261330
HP:0002673	Coxa valga	1399	CRKL	ORPHA:261330
HP:0002673	Coxa valga	5594	MAPK1	ORPHA:261330
HP:0002673	Coxa valga	2137	EXTL3	OMIM:617425
HP:0002673	Coxa valga	4000	LMNA	OMIM:248370
HP:0002673	Coxa valga	4000	LMNA	ORPHA:740
HP:0002673	Coxa valga	3764	KCNJ8	ORPHA:1517
HP:0002673	Coxa valga	10060	ABCC9	ORPHA:1517
HP:0002673	Coxa valga	10060	ABCC9	OMIM:239850
HP:0002673	Coxa valga	55768	NGLY1	ORPHA:404454
HP:0002673	Coxa valga	79158	GNPTAB	OMIM:252500
HP:0002673	Coxa valga	9382	COG1	ORPHA:263508
HP:0002673	Coxa valga	6197	RPS6KA3	OMIM:303600
HP:0002673	Coxa valga	64135	IFIH1	OMIM:182250
HP:0002673	Coxa valga	1301	COL11A1	OMIM:154780
HP:0002673	Coxa valga	2316	FLNA	OMIM:305620
HP:0002673	Coxa valga	2316	FLNA	ORPHA:2484
HP:0002673	Coxa valga	2316	FLNA	OMIM:309350
HP:0002673	Coxa valga	2316	FLNA	OMIM:311300
HP:0002673	Coxa valga	10940	POP1	OMIM:617396
HP:0002673	Coxa valga	3190	HNRNPK	OMIM:616580
HP:0002673	Coxa valga	57492	ARID1B	OMIM:135900
HP:0002673	Coxa valga	4998	ORC1	OMIM:224690
HP:0002673	Coxa valga	3899	AFF3	OMIM:619297
HP:0002673	Coxa valga	84068	SLC10A7	OMIM:618363
HP:0002673	Coxa valga	54543	TOMM7	OMIM:620601
HP:0002673	Coxa valga	64131	XYLT1	OMIM:615777
HP:0002673	Coxa valga	64131	XYLT1	ORPHA:370930
HP:0002673	Coxa valga	64131	XYLT1	ORPHA:1425
HP:0002673	Coxa valga	9719	ADAMTSL2	ORPHA:1901
HP:0002673	Coxa valga	9719	ADAMTSL2	OMIM:231050
HP:0002673	Coxa valga	9509	ADAMTS2	ORPHA:1901
HP:0002673	Coxa valga	2131	EXT1	ORPHA:321
HP:0002673	Coxa valga	2132	EXT2	ORPHA:321
HP:0002673	Coxa valga	8726	EED	OMIM:617561
HP:0002673	Coxa valga	633	BGN	OMIM:300106
HP:0002673	Coxa valga	372	ARCN1	OMIM:617164
HP:0002673	Coxa valga	84342	COG8	OMIM:611182
HP:0002673	Coxa valga	9451	EIF2AK3	OMIM:226980
HP:0002673	Coxa valga	3425	IDUA	OMIM:607014
HP:0002673	Coxa valga	4247	MGAT2	OMIM:212066
HP:0002673	Coxa valga	2074	ERCC6	OMIM:214150
HP:0002673	Coxa valga	10804	GJB6	ORPHA:477
HP:0002673	Coxa valga	2706	GJB2	ORPHA:477
HP:0002673	Coxa valga	9321	TRIP11	ORPHA:166272
HP:0002673	Coxa valga	11285	B4GALT7	OMIM:130070
HP:0002673	Coxa valga	1857	DVL3	ORPHA:3107
HP:0002673	Coxa valga	7474	WNT5A	ORPHA:3107
HP:0002673	Coxa valga	1855	DVL1	ORPHA:3107
HP:0002673	Coxa valga	2535	FZD2	ORPHA:3107
HP:0002673	Coxa valga	2517	FUCA1	OMIM:230000
HP:0002673	Coxa valga	2588	GALNS	OMIM:253000
HP:0002673	Coxa valga	81031	SLC2A10	ORPHA:3342
HP:0002673	Coxa valga	7040	TGFB1	ORPHA:1328
HP:0002673	Coxa valga	10236	HNRNPR	OMIM:620073
HP:0002673	Coxa valga	25839	COG4	OMIM:618150
HP:0002673	Coxa valga	10269	ZMPSTE24	ORPHA:740
HP:0002673	Coxa valga	6558	SLC12A2	OMIM:619080
HP:0002673	Coxa valga	51715	RAB23	OMIM:201000
HP:0002673	Coxa valga	4784	NFIX	OMIM:614753
HP:0002673	Coxa valga	388015	RTL1	ORPHA:96334
HP:0002673	Coxa valga	8788	DLK1	ORPHA:96334
HP:0002673	Coxa valga	55384	MEG3	ORPHA:96334
HP:0002673	Coxa valga	124583	CANT1	OMIM:251450
HP:0002673	Coxa valga	124583	CANT1	ORPHA:1425
HP:0002673	Coxa valga	126792	B3GALT6	OMIM:271640
HP:0002673	Coxa valga	3187	HNRNPH1	OMIM:620083
HP:0002673	Coxa valga	11014	KDELR2	OMIM:619131
HP:0002673	Coxa valga	5167	ENPP1	OMIM:613312
HP:0002673	Coxa valga	2146	EZH2	OMIM:277590
HP:0002673	Coxa valga	2961	GTF2E2	OMIM:616943
HP:0002673	Coxa valga	9939	RBM8A	ORPHA:3320
HP:0002673	Coxa valga	9939	RBM8A	OMIM:274000
HP:0002673	Coxa valga	3339	HSPG2	OMIM:255800
HP:0002673	Coxa valga	3339	HSPG2	ORPHA:800
HP:0002673	Coxa valga	55790	CSGALNACT1	ORPHA:1425
HP:0002673	Coxa valga	1278	COL1A2	ORPHA:1899
HP:0002673	Coxa valga	1277	COL1A1	ORPHA:1899
HP:0002673	Coxa valga	865	CBFB	OMIM:620099
HP:0002673	Coxa valga	2737	GLI3	ORPHA:93322
HP:0002673	Coxa valga	9690	UBE3C	OMIM:620270
HP:0002673	Coxa valga	4010	LMX1B	ORPHA:495818
HP:0002673	Coxa valga	6812	STXBP1	ORPHA:495818
HP:0002673	Coxa valga	4125	MAN2B1	ORPHA:309282
HP:0002673	Coxa valga	57003	CCDC47	OMIM:618268
HP:0002673	Coxa valga	51506	UFC1	OMIM:618076
HP:0002673	Coxa valga	7043	TGFB3	OMIM:615582
HP:0002673	Coxa valga	1297	COL9A1	ORPHA:166002
HP:0002673	Coxa valga	1298	COL9A2	ORPHA:166002
HP:0002673	Coxa valga	1299	COL9A3	ORPHA:166002
HP:0000347	Micrognathia	2737	GLI3	ORPHA:672
HP:0000347	Micrognathia	4625	MYH7	ORPHA:324604
HP:0000347	Micrognathia	7273	TTN	ORPHA:324604
HP:0000347	Micrognathia	6134	RPL10	OMIM:300998
HP:0000347	Micrognathia	6134	RPL10	ORPHA:459070
HP:0000347	Micrognathia	79868	ALG13	OMIM:300884
HP:0000347	Micrognathia	5649	RELN	ORPHA:89844
HP:0000347	Micrognathia	10300	KATNB1	ORPHA:89844
HP:0000347	Micrognathia	54820	NDE1	ORPHA:89844
HP:0000347	Micrognathia	55790	CSGALNACT1	OMIM:618870
HP:0000347	Micrognathia	26224	FBXL3	OMIM:606220
HP:0000347	Micrognathia	113189	CHST14	ORPHA:2953
HP:0000347	Micrognathia	113189	CHST14	OMIM:601776
HP:0000347	Micrognathia	29940	DSE	ORPHA:2953
HP:0000347	Micrognathia	9692	PRORP	OMIM:619737
HP:0000347	Micrognathia	7994	KAT6A	ORPHA:457193
HP:0000347	Micrognathia	7994	KAT6A	OMIM:616268
HP:0000347	Micrognathia	90993	CREB3L1	OMIM:616229
HP:0000347	Micrognathia	9325	TRIP4	OMIM:616866
HP:0000347	Micrognathia	54968	TMEM70	OMIM:614052
HP:0000347	Micrognathia	1501	CTNND2	ORPHA:281
HP:0000347	Micrognathia	9037	SEMA5A	ORPHA:281
HP:0000347	Micrognathia	23545	ATP6V0A2	OMIM:278250
HP:0000347	Micrognathia	9419	CRIPT	OMIM:615789
HP:0000347	Micrognathia	25942	SIN3A	OMIM:613406
HP:0000347	Micrognathia	59336	PRDM13	OMIM:619909
HP:0000347	Micrognathia	9997	SCO2	OMIM:604377
HP:0000347	Micrognathia	23443	SLC35A3	OMIM:615553
HP:0000347	Micrognathia	9894	TELO2	ORPHA:488642
HP:0000347	Micrognathia	25914	RTTN	ORPHA:468631
HP:0000347	Micrognathia	55165	CEP55	OMIM:236500
HP:0000347	Micrognathia	2571	GAD1	OMIM:619124
HP:0000347	Micrognathia	55617	TASP1	OMIM:618950
HP:0000347	Micrognathia	5075	PAX1	OMIM:615560
HP:0000347	Micrognathia	60482	SLC5A7	ORPHA:98914
HP:0000347	Micrognathia	4649	MYO9A	ORPHA:98914
HP:0000347	Micrognathia	1103	CHAT	ORPHA:98914
HP:0000347	Micrognathia	6576	SLC25A1	ORPHA:98914
HP:0000347	Micrognathia	6843	VAMP1	ORPHA:98914
HP:0000347	Micrognathia	375790	AGRN	ORPHA:98914
HP:0000347	Micrognathia	127833	SYT2	ORPHA:98914
HP:0000347	Micrognathia	6616	SNAP25	ORPHA:98914
HP:0000347	Micrognathia	100506658	OCLN	OMIM:251290
HP:0000347	Micrognathia	55717	WDR11	OMIM:620237
HP:0000347	Micrognathia	124583	CANT1	OMIM:251450
HP:0000347	Micrognathia	342035	GLDN	OMIM:617194
HP:0000347	Micrognathia	153241	CEP120	OMIM:616300
HP:0000347	Micrognathia	8565	YARS1	OMIM:619418
HP:0000347	Micrognathia	11133	KPTN	ORPHA:397612
HP:0000347	Micrognathia	26173	INTS1	OMIM:618571
HP:0000347	Micrognathia	90952	ESAM	OMIM:620371
HP:0000347	Micrognathia	1718	DHCR24	OMIM:602398
HP:0000347	Micrognathia	1718	DHCR24	ORPHA:35107
HP:0000347	Micrognathia	26235	FBXL4	OMIM:615471
HP:0000347	Micrognathia	4897	NRCAM	OMIM:619833
HP:0000347	Micrognathia	5927	KDM5A	OMIM:620820
HP:0000347	Micrognathia	1134	CHRNA1	OMIM:608930
HP:0000347	Micrognathia	1134	CHRNA1	OMIM:253290
HP:0000347	Micrognathia	55209	SETD5	ORPHA:404440
HP:0000347	Micrognathia	55209	SETD5	OMIM:615761
HP:0000347	Micrognathia	2317	FLNB	ORPHA:56305
HP:0000347	Micrognathia	2317	FLNB	ORPHA:1190
HP:0000347	Micrognathia	2317	FLNB	OMIM:108721
HP:0000347	Micrognathia	2317	FLNB	OMIM:108720
HP:0000347	Micrognathia	1836	SLC26A2	ORPHA:56304
HP:0000347	Micrognathia	1836	SLC26A2	OMIM:256050
HP:0000347	Micrognathia	1836	SLC26A2	ORPHA:93298
HP:0000347	Micrognathia	1836	SLC26A2	ORPHA:628
HP:0000347	Micrognathia	1836	SLC26A2	ORPHA:93307
HP:0000347	Micrognathia	6662	SOX9	ORPHA:140
HP:0000347	Micrognathia	6662	SOX9	OMIM:114290
HP:0000347	Micrognathia	6662	SOX9	ORPHA:718
HP:0000347	Micrognathia	5932	RBBP8	OMIM:606744
HP:0000347	Micrognathia	5932	RBBP8	ORPHA:808
HP:0000347	Micrognathia	2073	ERCC5	OMIM:616570
HP:0000347	Micrognathia	2073	ERCC5	ORPHA:1466
HP:0000347	Micrognathia	9578	CDC42BPB	OMIM:619841
HP:0000347	Micrognathia	80816	ASXL3	OMIM:615485
HP:0000347	Micrognathia	1855	DVL1	OMIM:616331
HP:0000347	Micrognathia	1855	DVL1	OMIM:180700
HP:0000347	Micrognathia	1855	DVL1	ORPHA:3107
HP:0000347	Micrognathia	27245	AHDC1	ORPHA:412069
HP:0000347	Micrognathia	27245	AHDC1	OMIM:615829
HP:0000347	Micrognathia	23426	GRIP1	OMIM:617667
HP:0000347	Micrognathia	2137	EXTL3	OMIM:617425
HP:0000347	Micrognathia	2137	EXTL3	ORPHA:508533
HP:0000347	Micrognathia	5184	PEPD	OMIM:170100
HP:0000347	Micrognathia	5184	PEPD	ORPHA:742
HP:0000347	Micrognathia	10084	PQBP1	ORPHA:93946
HP:0000347	Micrognathia	10084	PQBP1	OMIM:309500
HP:0000347	Micrognathia	57082	KNL1	OMIM:604321
HP:0000347	Micrognathia	79158	GNPTAB	OMIM:252500
HP:0000347	Micrognathia	284403	WDR62	OMIM:604317
HP:0000347	Micrognathia	1513	CTSK	OMIM:265800
HP:0000347	Micrognathia	1513	CTSK	ORPHA:763
HP:0000347	Micrognathia	55154	MSTO1	OMIM:617675
HP:0000347	Micrognathia	55154	MSTO1	ORPHA:502423
HP:0000347	Micrognathia	54453	RIN2	OMIM:613075
HP:0000347	Micrognathia	1020	CDK5	OMIM:616342
HP:0000347	Micrognathia	79029	AFG2B	OMIM:619616
HP:0000347	Micrognathia	64359	NXN	OMIM:618529
HP:0000347	Micrognathia	64359	NXN	ORPHA:1507
HP:0000347	Micrognathia	9968	MED12	ORPHA:93932
HP:0000347	Micrognathia	9968	MED12	ORPHA:776
HP:0000347	Micrognathia	9968	MED12	OMIM:309520
HP:0000347	Micrognathia	9968	MED12	OMIM:305450
HP:0000347	Micrognathia	9968	MED12	OMIM:300895
HP:0000347	Micrognathia	54543	TOMM7	OMIM:620601
HP:0000347	Micrognathia	55681	SCYL2	OMIM:618766
HP:0000347	Micrognathia	55681	SCYL2	ORPHA:1143
HP:0000347	Micrognathia	4604	MYBPC1	OMIM:618524
HP:0000347	Micrognathia	5191	PEX7	OMIM:215100
HP:0000347	Micrognathia	3339	HSPG2	ORPHA:1865
HP:0000347	Micrognathia	3339	HSPG2	OMIM:255800
HP:0000347	Micrognathia	3339	HSPG2	OMIM:224410
HP:0000347	Micrognathia	3339	HSPG2	ORPHA:800
HP:0000347	Micrognathia	2697	GJA1	ORPHA:2710
HP:0000347	Micrognathia	2697	GJA1	OMIM:257850
HP:0000347	Micrognathia	9401	RECQL4	OMIM:218600
HP:0000347	Micrognathia	9401	RECQL4	OMIM:268400
HP:0000347	Micrognathia	9401	RECQL4	ORPHA:1225
HP:0000347	Micrognathia	171023	ASXL1	ORPHA:97297
HP:0000347	Micrognathia	171023	ASXL1	OMIM:605039
HP:0000347	Micrognathia	23327	NEDD4L	OMIM:617201
HP:0000347	Micrognathia	89910	UBE3B	ORPHA:2707
HP:0000347	Micrognathia	89910	UBE3B	OMIM:244450
HP:0000347	Micrognathia	26834	RNU4-2	OMIM:620851
HP:0000347	Micrognathia	2316	FLNA	ORPHA:90652
HP:0000347	Micrognathia	2316	FLNA	ORPHA:1826
HP:0000347	Micrognathia	2316	FLNA	ORPHA:555877
HP:0000347	Micrognathia	2316	FLNA	OMIM:309350
HP:0000347	Micrognathia	2316	FLNA	OMIM:304120
HP:0000347	Micrognathia	2316	FLNA	ORPHA:2484
HP:0000347	Micrognathia	11285	B4GALT7	OMIM:130070
HP:0000347	Micrognathia	26038	CHD5	OMIM:619873
HP:0000347	Micrognathia	5034	P4HB	OMIM:112240
HP:0000347	Micrognathia	5034	P4HB	ORPHA:2050
HP:0000347	Micrognathia	6905	TBCE	OMIM:241410
HP:0000347	Micrognathia	6905	TBCE	ORPHA:2323
HP:0000347	Micrognathia	23126	POGZ	OMIM:616364
HP:0000347	Micrognathia	1909	EDNRA	OMIM:616367
HP:0000347	Micrognathia	79770	TXNDC15	OMIM:619879
HP:0000347	Micrognathia	79770	TXNDC15	ORPHA:564
HP:0000347	Micrognathia	9091	PIGQ	OMIM:618548
HP:0000347	Micrognathia	5728	PTEN	ORPHA:109
HP:0000347	Micrognathia	5728	PTEN	OMIM:158350
HP:0000347	Micrognathia	55210	ATAD3A	ORPHA:496790
HP:0000347	Micrognathia	55210	ATAD3A	OMIM:617183
HP:0000347	Micrognathia	55210	ATAD3A	OMIM:618810
HP:0000347	Micrognathia	8818	DPM2	OMIM:615042
HP:0000347	Micrognathia	8818	DPM2	ORPHA:329178
HP:0000347	Micrognathia	4285	MIPEP	OMIM:617228
HP:0000347	Micrognathia	163175	LGI4	OMIM:617468
HP:0000347	Micrognathia	79971	WLS	OMIM:619648
HP:0000347	Micrognathia	79633	FAT4	ORPHA:314679
HP:0000347	Micrognathia	79633	FAT4	OMIM:615546
HP:0000347	Micrognathia	8642	DCHS1	ORPHA:314679
HP:0000347	Micrognathia	8642	DCHS1	OMIM:601390
HP:0000347	Micrognathia	56975	FAM20C	ORPHA:1832
HP:0000347	Micrognathia	56975	FAM20C	OMIM:259775
HP:0000347	Micrognathia	1301	COL11A1	ORPHA:440354
HP:0000347	Micrognathia	1301	COL11A1	ORPHA:560
HP:0000347	Micrognathia	1301	COL11A1	OMIM:154780
HP:0000347	Micrognathia	1301	COL11A1	OMIM:604841
HP:0000347	Micrognathia	3930	LBR	OMIM:215140
HP:0000347	Micrognathia	3930	LBR	ORPHA:1426
HP:0000347	Micrognathia	4000	LMNA	ORPHA:280365
HP:0000347	Micrognathia	4000	LMNA	ORPHA:740
HP:0000347	Micrognathia	4000	LMNA	OMIM:151660
HP:0000347	Micrognathia	4000	LMNA	ORPHA:1662
HP:0000347	Micrognathia	4000	LMNA	OMIM:248370
HP:0000347	Micrognathia	4000	LMNA	OMIM:176670
HP:0000347	Micrognathia	4000	LMNA	ORPHA:79474
HP:0000347	Micrognathia	23483	TGDS	OMIM:616145
HP:0000347	Micrognathia	23483	TGDS	ORPHA:1388
HP:0000347	Micrognathia	84168	ANTXR1	OMIM:230740
HP:0000347	Micrognathia	84168	ANTXR1	ORPHA:2067
HP:0000347	Micrognathia	64919	BCL11B	OMIM:617237
HP:0000347	Micrognathia	25836	NIPBL	OMIM:122470
HP:0000347	Micrognathia	25836	NIPBL	ORPHA:199
HP:0000347	Micrognathia	4087	SMAD2	OMIM:619657
HP:0000347	Micrognathia	4087	SMAD2	ORPHA:60030
HP:0000347	Micrognathia	6885	MAP3K7	ORPHA:1826
HP:0000347	Micrognathia	641	BLM	ORPHA:125
HP:0000347	Micrognathia	6138	RPL15	ORPHA:124
HP:0000347	Micrognathia	6224	RPS20	ORPHA:124
HP:0000347	Micrognathia	6165	RPL35A	ORPHA:124
HP:0000347	Micrognathia	6132	RPL8	ORPHA:124
HP:0000347	Micrognathia	6223	RPS19	ORPHA:124
HP:0000347	Micrognathia	6223	RPS19	OMIM:105650
HP:0000347	Micrognathia	6232	RPS27	ORPHA:124
HP:0000347	Micrognathia	55027	HEATR3	ORPHA:124
HP:0000347	Micrognathia	55027	HEATR3	OMIM:620072
HP:0000347	Micrognathia	6160	RPL31	ORPHA:124
HP:0000347	Micrognathia	6201	RPS7	ORPHA:124
HP:0000347	Micrognathia	6155	RPL27	ORPHA:124
HP:0000347	Micrognathia	6234	RPS28	ORPHA:124
HP:0000347	Micrognathia	6234	RPS28	OMIM:606164
HP:0000347	Micrognathia	6135	RPL11	ORPHA:124
HP:0000347	Micrognathia	6229	RPS24	ORPHA:124
HP:0000347	Micrognathia	6125	RPL5	ORPHA:124
HP:0000347	Micrognathia	6125	RPL5	OMIM:612561
HP:0000347	Micrognathia	6204	RPS10	ORPHA:124
HP:0000347	Micrognathia	2623	GATA1	ORPHA:124
HP:0000347	Micrognathia	6133	RPL9	ORPHA:124
HP:0000347	Micrognathia	6231	RPS26	ORPHA:124
HP:0000347	Micrognathia	6231	RPS26	OMIM:613309
HP:0000347	Micrognathia	11224	RPL35	ORPHA:124
HP:0000347	Micrognathia	6218	RPS17	ORPHA:124
HP:0000347	Micrognathia	6154	RPL26	ORPHA:124
HP:0000347	Micrognathia	6210	RPS15A	ORPHA:124
HP:0000347	Micrognathia	90121	TSR2	ORPHA:124
HP:0000347	Micrognathia	90121	TSR2	OMIM:300946
HP:0000347	Micrognathia	6141	RPL18	ORPHA:124
HP:0000347	Micrognathia	6235	RPS29	ORPHA:124
HP:0000347	Micrognathia	51816	ADA2	ORPHA:124
HP:0000347	Micrognathia	25970	SH2B1	ORPHA:261197
HP:0000347	Micrognathia	1387	CREBBP	OMIM:618332
HP:0000347	Micrognathia	1387	CREBBP	OMIM:180849
HP:0000347	Micrognathia	1387	CREBBP	ORPHA:353277
HP:0000347	Micrognathia	2033	EP300	OMIM:618333
HP:0000347	Micrognathia	2033	EP300	OMIM:613684
HP:0000347	Micrognathia	2033	EP300	ORPHA:353284
HP:0000347	Micrognathia	2033	EP300	OMIM:180849
HP:0000347	Micrognathia	9742	IFT140	OMIM:266920
HP:0000347	Micrognathia	5881	RAC3	OMIM:618577
HP:0000347	Micrognathia	54101	RIPK4	OMIM:263650
HP:0000347	Micrognathia	54101	RIPK4	ORPHA:1234
HP:0000347	Micrognathia	9427	ECEL1	OMIM:615065
HP:0000347	Micrognathia	7227	TRPS1	OMIM:190350
HP:0000347	Micrognathia	7227	TRPS1	ORPHA:77258
HP:0000347	Micrognathia	7046	TGFBR1	OMIM:609192
HP:0000347	Micrognathia	7046	TGFBR1	ORPHA:60030
HP:0000347	Micrognathia	5426	POLE	OMIM:618336
HP:0000347	Micrognathia	5081	PAX7	OMIM:618578
HP:0000347	Micrognathia	5908	RAP1B	OMIM:620654
HP:0000347	Micrognathia	389827	MYMK	OMIM:254940
HP:0000347	Micrognathia	389827	MYMK	ORPHA:1358
HP:0000347	Micrognathia	5813	PURA	ORPHA:314655
HP:0000347	Micrognathia	9949	AMMECR1	OMIM:300990
HP:0000347	Micrognathia	3479	IGF1	ORPHA:73272
HP:0000347	Micrognathia	3479	IGF1	OMIM:608747
HP:0000347	Micrognathia	4921	DDR2	OMIM:271665
HP:0000347	Micrognathia	22827	PUF60	ORPHA:508498
HP:0000347	Micrognathia	9488	PIGB	OMIM:618580
HP:0000347	Micrognathia	1281	COL3A1	OMIM:618343
HP:0000347	Micrognathia	1281	COL3A1	ORPHA:2500
HP:0000347	Micrognathia	54517	PUS7	OMIM:618342
HP:0000347	Micrognathia	8573	CASK	OMIM:300749
HP:0000347	Micrognathia	8573	CASK	ORPHA:163937
HP:0000347	Micrognathia	79912	PYROXD1	OMIM:617258
HP:0000347	Micrognathia	5396	PRRX1	OMIM:202650
HP:0000347	Micrognathia	1798	DPAGT1	OMIM:608093
HP:0000347	Micrognathia	57122	NUP107	OMIM:618348
HP:0000347	Micrognathia	57122	NUP107	ORPHA:2065
HP:0000347	Micrognathia	57122	NUP107	OMIM:616730
HP:0000347	Micrognathia	253738	EBF3	ORPHA:96148
HP:0000347	Micrognathia	90459	ERI1	OMIM:620663
HP:0000347	Micrognathia	2200	FBN1	ORPHA:284979
HP:0000347	Micrognathia	2200	FBN1	OMIM:154700
HP:0000347	Micrognathia	2200	FBN1	ORPHA:2462
HP:0000347	Micrognathia	27125	AFF4	ORPHA:444077
HP:0000347	Micrognathia	10733	PLK4	OMIM:616171
HP:0000347	Micrognathia	10733	PLK4	ORPHA:808
HP:0000347	Micrognathia	2972	BRF1	ORPHA:444072
HP:0000347	Micrognathia	91754	NEK9	OMIM:617022
HP:0000347	Micrognathia	23114	NFASC	OMIM:618356
HP:0000347	Micrognathia	6492	SIM1	ORPHA:171829
HP:0000347	Micrognathia	51114	ZDHHC9	ORPHA:776
HP:0000347	Micrognathia	65109	UPF3B	ORPHA:776
HP:0000347	Micrognathia	4952	OCRL	ORPHA:534
HP:0000347	Micrognathia	29954	POMT2	OMIM:236670
HP:0000347	Micrognathia	79147	FKRP	OMIM:236670
HP:0000347	Micrognathia	2218	FKTN	OMIM:236670
HP:0000347	Micrognathia	10585	POMT1	OMIM:236670
HP:0000347	Micrognathia	9215	LARGE1	OMIM:236670
HP:0000347	Micrognathia	473	RERE	ORPHA:494344
HP:0000347	Micrognathia	473	RERE	OMIM:616975
HP:0000347	Micrognathia	55777	MBD5	OMIM:156200
HP:0000347	Micrognathia	5980	REV3L	ORPHA:570
HP:0000347	Micrognathia	23129	PLXND1	ORPHA:570
HP:0000347	Micrognathia	3039	HBA1	ORPHA:98791
HP:0000347	Micrognathia	3040	HBA2	ORPHA:98791
HP:0000347	Micrognathia	51132	RLIM	OMIM:300978
HP:0000347	Micrognathia	63925	ZNF335	OMIM:615095
HP:0000347	Micrognathia	22930	RAB3GAP1	OMIM:600118
HP:0000347	Micrognathia	22930	RAB3GAP1	ORPHA:2510
HP:0000347	Micrognathia	22930	RAB3GAP1	ORPHA:1387
HP:0000347	Micrognathia	51434	ANAPC7	OMIM:619699
HP:0000347	Micrognathia	4998	ORC1	OMIM:224690
HP:0000347	Micrognathia	4998	ORC1	ORPHA:2554
HP:0000347	Micrognathia	92255	LMBRD2	OMIM:619694
HP:0000347	Micrognathia	84068	SLC10A7	OMIM:618363
HP:0000347	Micrognathia	7468	NSD2	OMIM:619695
HP:0000347	Micrognathia	7468	NSD2	OMIM:194190
HP:0000347	Micrognathia	7468	NSD2	ORPHA:280
HP:0000347	Micrognathia	201163	FLCN	OMIM:610883
HP:0000347	Micrognathia	344167	FOXI3	OMIM:620444
HP:0000347	Micrognathia	1312	COMT	ORPHA:567
HP:0000347	Micrognathia	221037	JMJD1C	ORPHA:567
HP:0000347	Micrognathia	2812	GP1BB	ORPHA:567
HP:0000347	Micrognathia	6239	RREB1	ORPHA:567
HP:0000347	Micrognathia	6899	TBX1	ORPHA:567
HP:0000347	Micrognathia	6899	TBX1	ORPHA:1727
HP:0000347	Micrognathia	6899	TBX1	OMIM:188400
HP:0000347	Micrognathia	7290	HIRA	ORPHA:567
HP:0000347	Micrognathia	9632	SEC24C	ORPHA:567
HP:0000347	Micrognathia	7353	UFD1	ORPHA:567
HP:0000347	Micrognathia	421	ARVCF	ORPHA:567
HP:0000347	Micrognathia	7136	TNNI2	OMIM:601680
HP:0000347	Micrognathia	7136	TNNI2	ORPHA:1147
HP:0000347	Micrognathia	538	ATP7A	ORPHA:565
HP:0000347	Micrognathia	84314	TMEM107	ORPHA:564
HP:0000347	Micrognathia	84314	TMEM107	OMIM:617562
HP:0000347	Micrognathia	26123	TCTN3	ORPHA:564
HP:0000347	Micrognathia	26123	TCTN3	OMIM:258860
HP:0000347	Micrognathia	26123	TCTN3	ORPHA:2753
HP:0000347	Micrognathia	26123	TCTN3	ORPHA:2754
HP:0000347	Micrognathia	79867	TCTN2	ORPHA:564
HP:0000347	Micrognathia	80776	B9D2	ORPHA:564
HP:0000347	Micrognathia	79600	TCTN1	ORPHA:564
HP:0000347	Micrognathia	57096	RPGRIP1	ORPHA:564
HP:0000347	Micrognathia	79848	CSPP1	ORPHA:564
HP:0000347	Micrognathia	79848	CSPP1	ORPHA:397715
HP:0000347	Micrognathia	80184	CEP290	ORPHA:564
HP:0000347	Micrognathia	51259	TMEM216	ORPHA:564
HP:0000347	Micrognathia	51259	TMEM216	ORPHA:2754
HP:0000347	Micrognathia	57545	CC2D2A	ORPHA:564
HP:0000347	Micrognathia	79583	TMEM231	ORPHA:564
HP:0000347	Micrognathia	79583	TMEM231	ORPHA:2754
HP:0000347	Micrognathia	91147	TMEM67	ORPHA:564
HP:0000347	Micrognathia	27077	B9D1	ORPHA:564
HP:0000347	Micrognathia	23322	RPGRIP1L	ORPHA:564
HP:0000347	Micrognathia	54903	MKS1	ORPHA:564
HP:0000347	Micrognathia	54903	MKS1	OMIM:249000
HP:0000347	Micrognathia	65062	TMEM237	ORPHA:564
HP:0000347	Micrognathia	7317	UBA1	OMIM:301830
HP:0000347	Micrognathia	3188	HNRNPH2	OMIM:300986
HP:0000347	Micrognathia	4613	MYCN	OMIM:164280
HP:0000347	Micrognathia	4613	MYCN	ORPHA:391641
HP:0000347	Micrognathia	5332	PLCB4	OMIM:620458
HP:0000347	Micrognathia	5332	PLCB4	ORPHA:137888
HP:0000347	Micrognathia	5332	PLCB4	OMIM:614669
HP:0000347	Micrognathia	9734	HDAC9	OMIM:620457
HP:0000347	Micrognathia	1974	EIF4A2	OMIM:620455
HP:0000347	Micrognathia	26040	SETBP1	ORPHA:798
HP:0000347	Micrognathia	55605	KIF21A	ORPHA:994
HP:0000347	Micrognathia	4927	NUP88	ORPHA:994
HP:0000347	Micrognathia	4927	NUP88	OMIM:618393
HP:0000347	Micrognathia	7846	TUBA1A	ORPHA:994
HP:0000347	Micrognathia	4654	MYOD1	ORPHA:994
HP:0000347	Micrognathia	54551	MAGEL2	ORPHA:994
HP:0000347	Micrognathia	4593	MUSK	ORPHA:994
HP:0000347	Micrognathia	4593	MUSK	OMIM:208150
HP:0000347	Micrognathia	5913	RAPSN	ORPHA:994
HP:0000347	Micrognathia	5913	RAPSN	OMIM:618388
HP:0000347	Micrognathia	6572	SLC18A3	ORPHA:994
HP:0000347	Micrognathia	285489	DOK7	ORPHA:994
HP:0000347	Micrognathia	285489	DOK7	OMIM:618389
HP:0000347	Micrognathia	50801	KCNK4	OMIM:618381
HP:0000347	Micrognathia	65250	CPLANE1	OMIM:277170
HP:0000347	Micrognathia	65250	CPLANE1	ORPHA:2754
HP:0000347	Micrognathia	134218	DNAJC21	OMIM:617052
HP:0000347	Micrognathia	57061	HYMAI	ORPHA:96191
HP:0000347	Micrognathia	5325	PLAGL1	ORPHA:96191
HP:0000347	Micrognathia	10526	IPO8	OMIM:619472
HP:0000347	Micrognathia	10526	IPO8	ORPHA:60030
HP:0000347	Micrognathia	348180	CTU2	OMIM:618142
HP:0000347	Micrognathia	6608	SMO	OMIM:241800
HP:0000347	Micrognathia	80036	TRPM3	OMIM:620224
HP:0000347	Micrognathia	10283	CWC27	ORPHA:166035
HP:0000347	Micrognathia	10283	CWC27	OMIM:250410
HP:0000347	Micrognathia	388015	RTL1	ORPHA:96184
HP:0000347	Micrognathia	388015	RTL1	ORPHA:96334
HP:0000347	Micrognathia	388015	RTL1	ORPHA:254531
HP:0000347	Micrognathia	388015	RTL1	ORPHA:254525
HP:0000347	Micrognathia	8788	DLK1	ORPHA:96184
HP:0000347	Micrognathia	8788	DLK1	ORPHA:96334
HP:0000347	Micrognathia	8788	DLK1	ORPHA:254531
HP:0000347	Micrognathia	8788	DLK1	ORPHA:254525
HP:0000347	Micrognathia	55384	MEG3	ORPHA:96184
HP:0000347	Micrognathia	55384	MEG3	ORPHA:96334
HP:0000347	Micrognathia	55384	MEG3	ORPHA:254531
HP:0000347	Micrognathia	55384	MEG3	ORPHA:254525
HP:0000347	Micrognathia	215	ABCD1	ORPHA:369942
HP:0000347	Micrognathia	10134	BCAP31	ORPHA:369942
HP:0000347	Micrognathia	2887	GRB10	ORPHA:96182
HP:0000347	Micrognathia	25839	COG4	OMIM:618150
HP:0000347	Micrognathia	10269	ZMPSTE24	ORPHA:740
HP:0000347	Micrognathia	10269	ZMPSTE24	ORPHA:90154
HP:0000347	Micrognathia	10269	ZMPSTE24	ORPHA:1662
HP:0000347	Micrognathia	10269	ZMPSTE24	OMIM:608612
HP:0000347	Micrognathia	10269	ZMPSTE24	OMIM:275210
HP:0000347	Micrognathia	10682	EBP	OMIM:300960
HP:0000347	Micrognathia	10682	EBP	ORPHA:401973
HP:0000347	Micrognathia	1457	CSNK2A1	OMIM:617062
HP:0000347	Micrognathia	7204	TRIO	OMIM:617061
HP:0000347	Micrognathia	7204	TRIO	ORPHA:476126
HP:0000347	Micrognathia	2222	FDFT1	OMIM:618156
HP:0000347	Micrognathia	203068	TUBB	OMIM:156610
HP:0000347	Micrognathia	203068	TUBB	ORPHA:2505
HP:0000347	Micrognathia	374879	ZNF699	OMIM:619488
HP:0000347	Micrognathia	8567	MADD	OMIM:619005
HP:0000347	Micrognathia	55640	FLVCR2	OMIM:225790
HP:0000347	Micrognathia	23112	TNRC6B	OMIM:619243
HP:0000347	Micrognathia	9373	PLAA	ORPHA:521426
HP:0000347	Micrognathia	9373	PLAA	OMIM:617527
HP:0000347	Micrognathia	93587	TRMT10A	ORPHA:391408
HP:0000347	Micrognathia	84919	PPP1R15B	ORPHA:391408
HP:0000347	Micrognathia	84919	PPP1R15B	OMIM:616817
HP:0000347	Micrognathia	199221	DZIP1L	ORPHA:731
HP:0000347	Micrognathia	5314	PKHD1	ORPHA:731
HP:0000347	Micrognathia	60386	SLC25A19	OMIM:607196
HP:0000347	Micrognathia	60386	SLC25A19	ORPHA:99742
HP:0000347	Micrognathia	126792	B3GALT6	OMIM:271640
HP:0000347	Micrognathia	126792	B3GALT6	OMIM:609465
HP:0000347	Micrognathia	126792	B3GALT6	ORPHA:536467
HP:0000347	Micrognathia	126792	B3GALT6	OMIM:615349
HP:0000347	Micrognathia	10436	EMG1	OMIM:211180
HP:0000347	Micrognathia	10436	EMG1	ORPHA:1270
HP:0000347	Micrognathia	4081	MAB21L1	ORPHA:495875
HP:0000347	Micrognathia	5745	PTH1R	OMIM:156400
HP:0000347	Micrognathia	5745	PTH1R	OMIM:215045
HP:0000347	Micrognathia	5745	PTH1R	ORPHA:50945
HP:0000347	Micrognathia	6748	SSR4	OMIM:300934
HP:0000347	Micrognathia	84464	SLX4	OMIM:613951
HP:0000347	Micrognathia	84464	SLX4	ORPHA:84
HP:0000347	Micrognathia	5557	PRIM1	OMIM:620005
HP:0000347	Micrognathia	219844	HYLS1	OMIM:236680
HP:0000347	Micrognathia	219844	HYLS1	ORPHA:2189
HP:0000347	Micrognathia	51082	POLR1D	OMIM:613717
HP:0000347	Micrognathia	51082	POLR1D	ORPHA:861
HP:0000347	Micrognathia	7474	WNT5A	OMIM:180700
HP:0000347	Micrognathia	7474	WNT5A	ORPHA:3107
HP:0000347	Micrognathia	2801	GOLGA2	OMIM:620240
HP:0000347	Micrognathia	9897	WASHC5	ORPHA:7
HP:0000347	Micrognathia	9897	WASHC5	OMIM:220210
HP:0000347	Micrognathia	28952	CCDC22	ORPHA:7
HP:0000347	Micrognathia	57020	VPS35L	ORPHA:7
HP:0000347	Micrognathia	57020	VPS35L	OMIM:619135
HP:0000347	Micrognathia	56896	DPYSL5	ORPHA:7
HP:0000347	Micrognathia	114034	TOE1	ORPHA:284339
HP:0000347	Micrognathia	114034	TOE1	OMIM:614969
HP:0000347	Micrognathia	9562	MINPP1	ORPHA:284339
HP:0000347	Micrognathia	55181	SMG8	OMIM:619268
HP:0000347	Micrognathia	51109	RDH11	ORPHA:436245
HP:0000347	Micrognathia	79693	YRDC	ORPHA:2065
HP:0000347	Micrognathia	51002	TPRKB	ORPHA:2065
HP:0000347	Micrognathia	84942	WDR73	ORPHA:2065
HP:0000347	Micrognathia	84942	WDR73	OMIM:251300
HP:0000347	Micrognathia	55644	OSGEP	ORPHA:2065
HP:0000347	Micrognathia	55644	OSGEP	OMIM:617729
HP:0000347	Micrognathia	10785	WDR4	ORPHA:2065
HP:0000347	Micrognathia	55746	NUP133	ORPHA:2065
HP:0000347	Micrognathia	84520	GON7	ORPHA:2065
HP:0000347	Micrognathia	112858	TP53RK	ORPHA:2065
HP:0000347	Micrognathia	8270	LAGE3	ORPHA:2065
HP:0000347	Micrognathia	8270	LAGE3	OMIM:301006
HP:0000347	Micrognathia	283450	HECTD4	OMIM:620250
HP:0000347	Micrognathia	8085	KMT2D	OMIM:147920
HP:0000347	Micrognathia	8085	KMT2D	OMIM:620186
HP:0000347	Micrognathia	7403	KDM6A	OMIM:147920
HP:0000347	Micrognathia	7403	KDM6A	OMIM:300867
HP:0000347	Micrognathia	168667	BMPER	OMIM:608022
HP:0000347	Micrognathia	8243	SMC1A	OMIM:300590
HP:0000347	Micrognathia	8243	SMC1A	ORPHA:199
HP:0000347	Micrognathia	2294	FOXF1	OMIM:265380
HP:0000347	Micrognathia	324	APC	ORPHA:261584
HP:0000347	Micrognathia	6309	SC5D	ORPHA:46059
HP:0000347	Micrognathia	6309	SC5D	OMIM:607330
HP:0000347	Micrognathia	161742	SPRED1	OMIM:611431
HP:0000347	Micrognathia	652	BMP4	ORPHA:828
HP:0000347	Micrognathia	652	BMP4	OMIM:607932
HP:0000347	Micrognathia	673	BRAF	OMIM:115150
HP:0000347	Micrognathia	673	BRAF	OMIM:163950
HP:0000347	Micrognathia	57539	WDR35	OMIM:613610
HP:0000347	Micrognathia	57539	WDR35	ORPHA:93271
HP:0000347	Micrognathia	7518	XRCC4	ORPHA:99812
HP:0000347	Micrognathia	7518	XRCC4	ORPHA:436182
HP:0000347	Micrognathia	3981	LIG4	ORPHA:99812
HP:0000347	Micrognathia	3981	LIG4	ORPHA:235
HP:0000347	Micrognathia	1303	COL12A1	ORPHA:75840
HP:0000347	Micrognathia	1303	COL12A1	ORPHA:536516
HP:0000347	Micrognathia	1291	COL6A1	ORPHA:75840
HP:0000347	Micrognathia	1292	COL6A2	ORPHA:75840
HP:0000347	Micrognathia	1292	COL6A2	OMIM:620727
HP:0000347	Micrognathia	1293	COL6A3	ORPHA:75840
HP:0000347	Micrognathia	4784	NFIX	ORPHA:447980
HP:0000347	Micrognathia	55112	DYNC2I1	ORPHA:93271
HP:0000347	Micrognathia	57560	IFT80	ORPHA:93271
HP:0000347	Micrognathia	79659	DYNC2H1	ORPHA:93271
HP:0000347	Micrognathia	89891	DYNC2I2	ORPHA:93271
HP:0000347	Micrognathia	80232	WDR26	ORPHA:513456
HP:0000347	Micrognathia	80232	WDR26	OMIM:617616
HP:0000347	Micrognathia	2314	FLII	ORPHA:819
HP:0000347	Micrognathia	23096	IQSEC2	ORPHA:819
HP:0000347	Micrognathia	23096	IQSEC2	ORPHA:397933
HP:0000347	Micrognathia	10743	RAI1	ORPHA:819
HP:0000347	Micrognathia	10743	RAI1	ORPHA:1713
HP:0000347	Micrognathia	10522	DEAF1	ORPHA:819
HP:0000347	Micrognathia	1717	DHCR7	ORPHA:818
HP:0000347	Micrognathia	1717	DHCR7	OMIM:270400
HP:0000347	Micrognathia	5818	NECTIN1	ORPHA:3253
HP:0000347	Micrognathia	5818	NECTIN1	OMIM:225060
HP:0000347	Micrognathia	29072	SETD2	OMIM:620157
HP:0000347	Micrognathia	29072	SETD2	OMIM:620155
HP:0000347	Micrognathia	55780	ERMARD	ORPHA:75857
HP:0000347	Micrognathia	10225	CD96	OMIM:211750
HP:0000347	Micrognathia	10225	CD96	ORPHA:1308
HP:0000347	Micrognathia	26153	KIF26A	OMIM:620156
HP:0000347	Micrognathia	9382	COG1	OMIM:611209
HP:0000347	Micrognathia	9382	COG1	ORPHA:263508
HP:0000347	Micrognathia	1763	DNA2	OMIM:615807
HP:0000347	Micrognathia	1763	DNA2	ORPHA:808
HP:0000347	Micrognathia	25778	DSTYK	OMIM:270750
HP:0000347	Micrognathia	84992	PIGY	ORPHA:247262
HP:0000347	Micrognathia	84720	PIGO	ORPHA:247262
HP:0000347	Micrognathia	93210	PGAP3	ORPHA:247262
HP:0000347	Micrognathia	284098	PIGW	ORPHA:247262
HP:0000347	Micrognathia	27315	PGAP2	ORPHA:247262
HP:0000347	Micrognathia	55650	PIGV	ORPHA:247262
HP:0000347	Micrognathia	9487	PIGL	ORPHA:247262
HP:0000347	Micrognathia	80204	FBXO11	OMIM:618089
HP:0000347	Micrognathia	50814	NSDHL	OMIM:308050
HP:0000347	Micrognathia	50814	NSDHL	OMIM:300831
HP:0000347	Micrognathia	23522	KAT6B	OMIM:606170
HP:0000347	Micrognathia	23522	KAT6B	ORPHA:85201
HP:0000347	Micrognathia	23522	KAT6B	OMIM:603736
HP:0000347	Micrognathia	23522	KAT6B	ORPHA:3047
HP:0000347	Micrognathia	1801	DPH1	OMIM:616901
HP:0000347	Micrognathia	1801	DPH1	ORPHA:459061
HP:0000347	Micrognathia	93627	TBCK	OMIM:616900
HP:0000347	Micrognathia	672	BRCA1	ORPHA:84
HP:0000347	Micrognathia	10459	MAD2L2	ORPHA:84
HP:0000347	Micrognathia	7516	XRCC2	ORPHA:84
HP:0000347	Micrognathia	29089	UBE2T	ORPHA:84
HP:0000347	Micrognathia	675	BRCA2	ORPHA:84
HP:0000347	Micrognathia	55120	FANCL	ORPHA:84
HP:0000347	Micrognathia	55120	FANCL	OMIM:614083
HP:0000347	Micrognathia	2177	FANCD2	ORPHA:84
HP:0000347	Micrognathia	2175	FANCA	ORPHA:84
HP:0000347	Micrognathia	2187	FANCB	ORPHA:84
HP:0000347	Micrognathia	2187	FANCB	ORPHA:3412
HP:0000347	Micrognathia	2176	FANCC	ORPHA:84
HP:0000347	Micrognathia	2178	FANCE	ORPHA:84
HP:0000347	Micrognathia	2188	FANCF	ORPHA:84
HP:0000347	Micrognathia	2189	FANCG	ORPHA:84
HP:0000347	Micrognathia	5888	RAD51	ORPHA:84
HP:0000347	Micrognathia	5889	RAD51C	ORPHA:84
HP:0000347	Micrognathia	55159	RFWD3	ORPHA:84
HP:0000347	Micrognathia	83990	BRIP1	ORPHA:84
HP:0000347	Micrognathia	57697	FANCM	ORPHA:84
HP:0000347	Micrognathia	79728	PALB2	ORPHA:84
HP:0000347	Micrognathia	2072	ERCC4	ORPHA:84
HP:0000347	Micrognathia	55215	FANCI	ORPHA:84
HP:0000347	Micrognathia	9896	FIG4	ORPHA:3472
HP:0000347	Micrognathia	9896	FIG4	OMIM:216340
HP:0000347	Micrognathia	55697	VAC14	ORPHA:3472
HP:0000347	Micrognathia	9184	BUB3	ORPHA:1052
HP:0000347	Micrognathia	699	BUB1	ORPHA:1052
HP:0000347	Micrognathia	9702	CEP57	ORPHA:1052
HP:0000347	Micrognathia	9702	CEP57	OMIM:614114
HP:0000347	Micrognathia	9319	TRIP13	ORPHA:1052
HP:0000347	Micrognathia	701	BUB1B	ORPHA:1052
HP:0000347	Micrognathia	701	BUB1B	OMIM:257300
HP:0000347	Micrognathia	23036	ZNF292	OMIM:619188
HP:0000347	Micrognathia	23314	SATB2	OMIM:612313
HP:0000347	Micrognathia	23314	SATB2	ORPHA:576283
HP:0000347	Micrognathia	23314	SATB2	ORPHA:251028
HP:0000347	Micrognathia	23314	SATB2	ORPHA:251019
HP:0000347	Micrognathia	55636	CHD7	OMIM:214800
HP:0000347	Micrognathia	1906	EDN1	ORPHA:137888
HP:0000347	Micrognathia	1906	EDN1	OMIM:615706
HP:0000347	Micrognathia	2773	GNAI3	ORPHA:137888
HP:0000347	Micrognathia	2773	GNAI3	OMIM:602483
HP:0000347	Micrognathia	526	ATP6V1B2	ORPHA:3473
HP:0000347	Micrognathia	3756	KCNH1	ORPHA:3473
HP:0000347	Micrognathia	3782	KCNN3	ORPHA:3473
HP:0000347	Micrognathia	10815	CPLX1	OMIM:194190
HP:0000347	Micrognathia	10815	CPLX1	ORPHA:280
HP:0000347	Micrognathia	1487	CTBP1	OMIM:194190
HP:0000347	Micrognathia	1487	CTBP1	ORPHA:280
HP:0000347	Micrognathia	53834	FGFRL1	OMIM:194190
HP:0000347	Micrognathia	3954	LETM1	OMIM:194190
HP:0000347	Micrognathia	3954	LETM1	ORPHA:280
HP:0000347	Micrognathia	3954	LETM1	OMIM:620089
HP:0000347	Micrognathia	165	AEBP1	ORPHA:536532
HP:0000347	Micrognathia	165	AEBP1	OMIM:618000
HP:0000347	Micrognathia	3425	IDUA	OMIM:607015
HP:0000347	Micrognathia	3192	HNRNPU	ORPHA:238769
HP:0000347	Micrognathia	26053	AUTS2	OMIM:615834
HP:0000347	Micrognathia	26053	AUTS2	ORPHA:352490
HP:0000347	Micrognathia	10013	HDAC6	ORPHA:163966
HP:0000347	Micrognathia	79753	SNIP1	OMIM:614501
HP:0000347	Micrognathia	3211	HOXB1	OMIM:614744
HP:0000347	Micrognathia	54499	TMCO1	OMIM:213980
HP:0000347	Micrognathia	11128	POLR3A	OMIM:264090
HP:0000347	Micrognathia	8379	MAD1L1	OMIM:620189
HP:0000347	Micrognathia	23137	SMC5	OMIM:620185
HP:0000347	Micrognathia	10907	TXNL4A	OMIM:608572
HP:0000347	Micrognathia	79759	ZNF668	OMIM:620194
HP:0000347	Micrognathia	57459	GATAD2B	ORPHA:363686
HP:0000347	Micrognathia	6473	SHOX	OMIM:249700
HP:0000347	Micrognathia	6473	SHOX	ORPHA:314795
HP:0000347	Micrognathia	81887	LAS1L	ORPHA:3459
HP:0000347	Micrognathia	55869	HDAC8	ORPHA:3459
HP:0000347	Micrognathia	55869	HDAC8	ORPHA:199
HP:0000347	Micrognathia	55869	HDAC8	OMIM:300882
HP:0000347	Micrognathia	23261	CAMTA1	OMIM:614756
HP:0000347	Micrognathia	10472	ZBTB18	OMIM:612337
HP:0000347	Micrognathia	10472	ZBTB18	ORPHA:36367
HP:0000347	Micrognathia	2263	FGFR2	ORPHA:2363
HP:0000347	Micrognathia	2263	FGFR2	OMIM:614592
HP:0000347	Micrognathia	2263	FGFR2	ORPHA:313855
HP:0000347	Micrognathia	2261	FGFR3	ORPHA:2363
HP:0000347	Micrognathia	2255	FGF10	ORPHA:2363
HP:0000347	Micrognathia	2535	FZD2	OMIM:164745
HP:0000347	Micrognathia	2535	FZD2	ORPHA:3107
HP:0000347	Micrognathia	2535	FZD2	ORPHA:93328
HP:0000347	Micrognathia	8813	DPM1	OMIM:608799
HP:0000347	Micrognathia	8813	DPM1	ORPHA:79322
HP:0000347	Micrognathia	8242	KDM5C	OMIM:300534
HP:0000347	Micrognathia	6949	TCOF1	OMIM:154500
HP:0000347	Micrognathia	6949	TCOF1	ORPHA:861
HP:0000347	Micrognathia	546	ATRX	OMIM:309580
HP:0000347	Micrognathia	55275	VPS53	OMIM:615851
HP:0000347	Micrognathia	7048	TGFBR2	OMIM:610168
HP:0000347	Micrognathia	7048	TGFBR2	ORPHA:60030
HP:0000347	Micrognathia	545	ATR	ORPHA:808
HP:0000347	Micrognathia	545	ATR	OMIM:210600
HP:0000347	Micrognathia	1062	CENPE	ORPHA:808
HP:0000347	Micrognathia	1062	CENPE	OMIM:616051
HP:0000347	Micrognathia	5116	PCNT	ORPHA:808
HP:0000347	Micrognathia	79902	NUP85	ORPHA:808
HP:0000347	Micrognathia	84126	ATRIP	ORPHA:808
HP:0000347	Micrognathia	10293	TRAIP	ORPHA:808
HP:0000347	Micrognathia	10293	TRAIP	OMIM:616777
HP:0000347	Micrognathia	22995	CEP152	ORPHA:808
HP:0000347	Micrognathia	22995	CEP152	OMIM:613823
HP:0000347	Micrognathia	1302	COL11A2	OMIM:614524
HP:0000347	Micrognathia	1302	COL11A2	ORPHA:1427
HP:0000347	Micrognathia	1302	COL11A2	ORPHA:166100
HP:0000347	Micrognathia	1302	COL11A2	OMIM:215150
HP:0000347	Micrognathia	9321	TRIP11	ORPHA:93299
HP:0000347	Micrognathia	80324	PUS1	ORPHA:2598
HP:0000347	Micrognathia	80324	PUS1	OMIM:600462
HP:0000347	Micrognathia	51067	YARS2	ORPHA:2598
HP:0000347	Micrognathia	64324	NSD1	ORPHA:3447
HP:0000347	Micrognathia	23512	SUZ12	ORPHA:3447
HP:0000347	Micrognathia	2146	EZH2	ORPHA:3447
HP:0000347	Micrognathia	28962	OSTM1	OMIM:259720
HP:0000347	Micrognathia	79228	THOC6	OMIM:613680
HP:0000347	Micrognathia	2303	FOXC2	OMIM:153400
HP:0000347	Micrognathia	7407	VARS1	OMIM:617802
HP:0000347	Micrognathia	196528	ARID2	OMIM:617808
HP:0000347	Micrognathia	8216	LZTR1	OMIM:605275
HP:0000347	Micrognathia	8216	LZTR1	ORPHA:648
HP:0000347	Micrognathia	56052	ALG1	OMIM:608540
HP:0000347	Micrognathia	84181	CHD6	ORPHA:2108
HP:0000347	Micrognathia	10075	HUWE1	OMIM:309590
HP:0000347	Micrognathia	10159	ATP6AP2	OMIM:301045
HP:0000347	Micrognathia	91949	COG7	OMIM:608779
HP:0000347	Micrognathia	91949	COG7	ORPHA:79333
HP:0000347	Micrognathia	2245	FGD1	OMIM:305400
HP:0000347	Micrognathia	10735	STAG2	OMIM:301043
HP:0000347	Micrognathia	10735	STAG2	OMIM:301022
HP:0000347	Micrognathia	27238	GPKOW	ORPHA:2570
HP:0000347	Micrognathia	22856	CHSY1	ORPHA:363417
HP:0000347	Micrognathia	1305	COL13A1	OMIM:616720
HP:0000347	Micrognathia	2733	GLE1	ORPHA:1486
HP:0000347	Micrognathia	2733	GLE1	OMIM:253310
HP:0000347	Micrognathia	2733	GLE1	OMIM:611890
HP:0000347	Micrognathia	79650	USB1	OMIM:604173
HP:0000347	Micrognathia	4854	NOTCH3	OMIM:130720
HP:0000347	Micrognathia	4854	NOTCH3	ORPHA:2789
HP:0000347	Micrognathia	84162	BLTP1	OMIM:617822
HP:0000347	Micrognathia	23291	FBXW11	OMIM:618914
HP:0000347	Micrognathia	10982	MAPRE2	OMIM:616734
HP:0000347	Micrognathia	10982	MAPRE2	ORPHA:2505
HP:0000347	Micrognathia	55906	ZC4H2	OMIM:314580
HP:0000347	Micrognathia	2068	ERCC2	ORPHA:1466
HP:0000347	Micrognathia	2068	ERCC2	OMIM:610756
HP:0000347	Micrognathia	2067	ERCC1	ORPHA:1466
HP:0000347	Micrognathia	2067	ERCC1	OMIM:610758
HP:0000347	Micrognathia	2074	ERCC6	ORPHA:1466
HP:0000347	Micrognathia	2074	ERCC6	OMIM:214150
HP:0000347	Micrognathia	57211	ADGRG6	OMIM:616503
HP:0000347	Micrognathia	259232	NALCN	OMIM:615419
HP:0000347	Micrognathia	259232	NALCN	OMIM:616266
HP:0000347	Micrognathia	259232	NALCN	ORPHA:562528
HP:0000347	Micrognathia	259232	NALCN	ORPHA:1147
HP:0000347	Micrognathia	259232	NALCN	ORPHA:371364
HP:0000347	Micrognathia	3759	KCNJ2	OMIM:170390
HP:0000347	Micrognathia	3759	KCNJ2	ORPHA:37553
HP:0000347	Micrognathia	81620	CDT1	ORPHA:2554
HP:0000347	Micrognathia	81620	CDT1	OMIM:613804
HP:0000347	Micrognathia	5000	ORC4	ORPHA:2554
HP:0000347	Micrognathia	5000	ORC4	OMIM:613800
HP:0000347	Micrognathia	23594	ORC6	ORPHA:2554
HP:0000347	Micrognathia	23594	ORC6	OMIM:613803
HP:0000347	Micrognathia	8318	CDC45	ORPHA:2554
HP:0000347	Micrognathia	990	CDC6	ORPHA:2554
HP:0000347	Micrognathia	990	CDC6	OMIM:613805
HP:0000347	Micrognathia	51053	GMNN	ORPHA:2554
HP:0000347	Micrognathia	54539	NDUFB11	ORPHA:2556
HP:0000347	Micrognathia	1349	COX7B	ORPHA:2556
HP:0000347	Micrognathia	3052	HCCS	ORPHA:2556
HP:0000347	Micrognathia	860	RUNX2	ORPHA:1452
HP:0000347	Micrognathia	860	RUNX2	OMIM:119600
HP:0000347	Micrognathia	5723	PSPH	ORPHA:79350
HP:0000347	Micrognathia	139285	AMER1	ORPHA:2780
HP:0000347	Micrognathia	139285	AMER1	OMIM:300373
HP:0000347	Micrognathia	6638	SNRPN	ORPHA:177907
HP:0000347	Micrognathia	9343	EFTUD2	ORPHA:79113
HP:0000347	Micrognathia	9343	EFTUD2	OMIM:610536
HP:0000347	Micrognathia	84172	POLR1B	OMIM:618939
HP:0000347	Micrognathia	84172	POLR1B	ORPHA:861
HP:0000347	Micrognathia	760	CA2	ORPHA:2785
HP:0000347	Micrognathia	23476	BRD4	ORPHA:199
HP:0000347	Micrognathia	9126	SMC3	ORPHA:199
HP:0000347	Micrognathia	9126	SMC3	OMIM:610759
HP:0000347	Micrognathia	6878	TAF6	ORPHA:199
HP:0000347	Micrognathia	5885	RAD21	ORPHA:199
HP:0000347	Micrognathia	157680	VPS13B	ORPHA:193
HP:0000347	Micrognathia	157680	VPS13B	OMIM:216550
HP:0000347	Micrognathia	9150	CTDP1	ORPHA:48431
HP:0000347	Micrognathia	1859	DYRK1A	OMIM:614104
HP:0000347	Micrognathia	1861	TOR1A	OMIM:618947
HP:0000347	Micrognathia	117581	TWIST2	OMIM:209885
HP:0000347	Micrognathia	9935	MAFB	ORPHA:2774
HP:0000347	Micrognathia	9935	MAFB	ORPHA:233
HP:0000347	Micrognathia	9935	MAFB	OMIM:166300
HP:0000347	Micrognathia	5297	PI4KA	OMIM:616531
HP:0000347	Micrognathia	5297	PI4KA	ORPHA:98889
HP:0000347	Micrognathia	5297	PI4KA	OMIM:619708
HP:0000347	Micrognathia	112752	IFT43	OMIM:617866
HP:0000347	Micrognathia	112752	IFT43	OMIM:614099
HP:0000347	Micrognathia	80210	ARMC9	OMIM:617622
HP:0000347	Micrognathia	113246	C12orf57	OMIM:218340
HP:0000347	Micrognathia	259266	ASPM	OMIM:608716
HP:0000347	Micrognathia	374654	KIF7	OMIM:614120
HP:0000347	Micrognathia	374654	KIF7	ORPHA:2754
HP:0000347	Micrognathia	374654	KIF7	ORPHA:2189
HP:0000347	Micrognathia	84700	MYO18B	OMIM:616549
HP:0000347	Micrognathia	4621	MYH3	ORPHA:2990
HP:0000347	Micrognathia	4621	MYH3	OMIM:193700
HP:0000347	Micrognathia	4621	MYH3	ORPHA:1147
HP:0000347	Micrognathia	1146	CHRNG	ORPHA:2990
HP:0000347	Micrognathia	1146	CHRNG	OMIM:265000
HP:0000347	Micrognathia	1146	CHRNG	OMIM:253290
HP:0000347	Micrognathia	8481	OFD1	ORPHA:2750
HP:0000347	Micrognathia	8481	OFD1	ORPHA:2754
HP:0000347	Micrognathia	9939	RBM8A	OMIM:274000
HP:0000347	Micrognathia	9939	RBM8A	ORPHA:3320
HP:0000347	Micrognathia	7473	WNT3	OMIM:273395
HP:0000347	Micrognathia	7473	WNT3	ORPHA:3301
HP:0000347	Micrognathia	4750	NEK1	ORPHA:2751
HP:0000347	Micrognathia	4750	NEK1	OMIM:252100
HP:0000347	Micrognathia	25782	RAB3GAP2	ORPHA:2510
HP:0000347	Micrognathia	25782	RAB3GAP2	OMIM:212720
HP:0000347	Micrognathia	25782	RAB3GAP2	ORPHA:1387
HP:0000347	Micrognathia	22931	RAB18	ORPHA:2510
HP:0000347	Micrognathia	22931	RAB18	OMIM:614222
HP:0000347	Micrognathia	128637	TBC1D20	ORPHA:2510
HP:0000347	Micrognathia	71	ACTG1	ORPHA:2995
HP:0000347	Micrognathia	60	ACTB	ORPHA:2995
HP:0000347	Micrognathia	10210	TOPORS	ORPHA:2754
HP:0000347	Micrognathia	9851	KIAA0753	ORPHA:2754
HP:0000347	Micrognathia	5147	PDE6D	ORPHA:2754
HP:0000347	Micrognathia	317662	FAM149B1	ORPHA:2754
HP:0000347	Micrognathia	6910	TBX5	OMIM:142900
HP:0000347	Micrognathia	55553	SOX6	OMIM:618971
HP:0000347	Micrognathia	1806	DPYD	ORPHA:293948
HP:0000347	Micrognathia	4281	MID1	ORPHA:2745
HP:0000347	Micrognathia	8398	PLA2G6	OMIM:256600
HP:0000347	Micrognathia	246329	STAC3	OMIM:255995
HP:0000347	Micrognathia	246329	STAC3	ORPHA:168572
HP:0000347	Micrognathia	1278	COL1A2	ORPHA:1899
HP:0000347	Micrognathia	1278	COL1A2	OMIM:259420
HP:0000347	Micrognathia	1277	COL1A1	ORPHA:1899
HP:0000347	Micrognathia	1277	COL1A1	OMIM:259420
HP:0000347	Micrognathia	3762	KCNJ5	ORPHA:37553
HP:0000347	Micrognathia	7528	YY1	ORPHA:506358
HP:0000347	Micrognathia	7528	YY1	OMIM:617557
HP:0000347	Micrognathia	23141	ANKLE2	OMIM:616681
HP:0000347	Micrognathia	8294	H4C9	OMIM:619951
HP:0000347	Micrognathia	83932	SPRTN	OMIM:616200
HP:0000347	Micrognathia	8425	LTBP4	OMIM:613177
HP:0000347	Micrognathia	5830	PEX5	OMIM:214110
HP:0000347	Micrognathia	5830	PEX5	ORPHA:912
HP:0000347	Micrognathia	64220	STRA6	OMIM:601186
HP:0000347	Micrognathia	9786	KIAA0586	ORPHA:397715
HP:0000347	Micrognathia	3020	H3-3A	OMIM:619720
HP:0000347	Micrognathia	51741	WWOX	OMIM:616211
HP:0000347	Micrognathia	1723	DHODH	OMIM:263750
HP:0000347	Micrognathia	1723	DHODH	ORPHA:246
HP:0000347	Micrognathia	72	ACTG2	ORPHA:2604
HP:0000347	Micrognathia	2201	FBN2	OMIM:121050
HP:0000347	Micrognathia	129563	DIS3L2	ORPHA:2849
HP:0000347	Micrognathia	129563	DIS3L2	OMIM:267000
HP:0000347	Micrognathia	4286	MITF	OMIM:617306
HP:0000347	Micrognathia	5189	PEX1	OMIM:214100
HP:0000347	Micrognathia	5189	PEX1	ORPHA:912
HP:0000347	Micrognathia	716	C1S	ORPHA:75392
HP:0000347	Micrognathia	715	C1R	ORPHA:75392
HP:0000347	Micrognathia	25885	POLR1A	OMIM:616462
HP:0000347	Micrognathia	83871	RAB34	OMIM:620718
HP:0000347	Micrognathia	4853	NOTCH2	OMIM:102500
HP:0000347	Micrognathia	4853	NOTCH2	ORPHA:955
HP:0000347	Micrognathia	10381	TUBB3	ORPHA:300570
HP:0000347	Micrognathia	4920	ROR2	ORPHA:1507
HP:0000347	Micrognathia	4920	ROR2	OMIM:268310
HP:0000347	Micrognathia	2626	GATA4	ORPHA:251071
HP:0000347	Micrognathia	7020	TFAP2A	OMIM:113620
HP:0000347	Micrognathia	6872	TAF1	ORPHA:480907
HP:0000347	Micrognathia	54872	PIGG	ORPHA:280
HP:0000347	Micrognathia	7469	NELFA	ORPHA:280
HP:0000347	Micrognathia	22872	SEC31A	OMIM:618651
HP:0000347	Micrognathia	4763	NF1	ORPHA:363700
HP:0000347	Micrognathia	5424	POLD1	OMIM:615381
HP:0000347	Micrognathia	57498	KIDINS220	OMIM:619501
HP:0000347	Micrognathia	4174	MCM5	OMIM:617564
HP:0000347	Micrognathia	57178	ZMIZ1	OMIM:618659
HP:0000347	Micrognathia	267010	RNU12	ORPHA:85199
HP:0000347	Micrognathia	2783	GNB2	OMIM:619503
HP:0000347	Micrognathia	55361	PI4K2A	OMIM:620732
HP:0000347	Micrognathia	8241	RBM10	OMIM:311900
HP:0000347	Micrognathia	8241	RBM10	ORPHA:2886
HP:0000347	Micrognathia	57167	SALL4	ORPHA:233
HP:0000347	Micrognathia	1123	CHN1	ORPHA:233
HP:0000347	Micrognathia	1789	DNMT3B	OMIM:242860
HP:0000347	Micrognathia	1789	DNMT3B	ORPHA:2268
HP:0000347	Micrognathia	54888	NSUN2	ORPHA:235
HP:0000347	Micrognathia	1182	CLCN3	OMIM:619512
HP:0000347	Micrognathia	63895	PIEZO2	OMIM:114300
HP:0000347	Micrognathia	63895	PIEZO2	OMIM:248700
HP:0000347	Micrognathia	63895	PIEZO2	ORPHA:2461
HP:0000347	Micrognathia	54914	FOCAD	OMIM:619991
HP:0000347	Micrognathia	55699	IARS2	OMIM:616007
HP:0000347	Micrognathia	286	ANK1	ORPHA:251066
HP:0000347	Micrognathia	145258	GSC	OMIM:602471
HP:0000347	Micrognathia	2248	FGF3	OMIM:610706
HP:0000347	Micrognathia	2248	FGF3	ORPHA:90024
HP:0000347	Micrognathia	79796	ALG9	ORPHA:79328
HP:0000347	Micrognathia	79796	ALG9	OMIM:263210
HP:0000347	Micrognathia	54928	BPNT2	OMIM:614078
HP:0000347	Micrognathia	53335	BCL11A	OMIM:617101
HP:0000347	Micrognathia	9928	KIF14	OMIM:616258
HP:0000347	Micrognathia	2542	SLC37A4	OMIM:619525
HP:0000347	Micrognathia	286053	NSMCE2	ORPHA:436182
HP:0000347	Micrognathia	57492	ARID1B	ORPHA:251056
HP:0000347	Micrognathia	2556	GABRA3	OMIM:301091
HP:0000347	Micrognathia	4626	MYH8	OMIM:158300
HP:0000347	Micrognathia	57724	EPG5	OMIM:242840
HP:0000347	Micrognathia	23556	PIGN	OMIM:614080
HP:0000347	Micrognathia	23556	PIGN	ORPHA:2059
HP:0000347	Micrognathia	23162	MAPK8IP3	OMIM:618443
HP:0000347	Micrognathia	4123	MAN2C1	OMIM:619775
HP:0000347	Micrognathia	8218	CLTCL1	ORPHA:453510
HP:0000347	Micrognathia	23219	FBXO28	OMIM:619777
HP:0000347	Micrognathia	85459	CEP295	OMIM:620767
HP:0000347	Micrognathia	9496	TBX4	OMIM:147891
HP:0000347	Micrognathia	9496	TBX4	ORPHA:3301
HP:0000347	Micrognathia	79087	ALG12	ORPHA:79324
HP:0000347	Micrognathia	10262	SF3B4	ORPHA:245
HP:0000347	Micrognathia	10262	SF3B4	OMIM:154400
HP:0000347	Micrognathia	8295	TRRAP	OMIM:618454
HP:0000347	Micrognathia	81570	CLPB	OMIM:616271
HP:0000347	Micrognathia	3763	KCNJ6	OMIM:614098
HP:0000347	Micrognathia	3763	KCNJ6	ORPHA:435628
HP:0000347	Micrognathia	9533	POLR1C	OMIM:248390
HP:0000347	Micrognathia	9533	POLR1C	ORPHA:861
HP:0000347	Micrognathia	29968	PSAT1	OMIM:616038
HP:0000347	Micrognathia	29968	PSAT1	ORPHA:284417
HP:0000347	Micrognathia	58497	PRUNE1	ORPHA:544469
HP:0000347	Micrognathia	5062	PAK2	OMIM:618458
HP:0000347	Micrognathia	27145	FILIP1	OMIM:620775
HP:0000347	Micrognathia	78987	CRELD1	OMIM:620771
HP:0000347	Micrognathia	1802	DPH2	ORPHA:459061
HP:0000347	Micrognathia	23013	SPEN	OMIM:619312
HP:0000347	Micrognathia	54892	NCAPG2	OMIM:618460
HP:0000347	Micrognathia	8506	CNTNAP1	OMIM:616286
HP:0000347	Micrognathia	8506	CNTNAP1	OMIM:618186
HP:0000347	Micrognathia	6091	ROBO1	OMIM:620305
HP:0000347	Micrognathia	4076	CAPRIN1	OMIM:620782
HP:0000347	Micrognathia	221496	LEMD2	OMIM:619322
HP:0000347	Micrognathia	29998	BICRA	OMIM:619325
HP:0000347	Micrognathia	23030	KDM4B	OMIM:619320
HP:0000347	Micrognathia	1363	CPE	OMIM:619326
HP:0000347	Micrognathia	1289	COL5A1	OMIM:619329
HP:0000347	Micrognathia	6263	RYR3	OMIM:620310
HP:0000347	Micrognathia	6904	TBCD	ORPHA:496641
HP:0000347	Micrognathia	6904	TBCD	OMIM:617193
HP:0000347	Micrognathia	170302	ARX	ORPHA:452
HP:0000347	Micrognathia	170302	ARX	OMIM:300215
HP:0000347	Micrognathia	23221	RHOBTB2	OMIM:618004
HP:0000347	Micrognathia	8260	NAA10	OMIM:300855
HP:0000347	Micrognathia	10082	GPC6	OMIM:258315
HP:0000347	Micrognathia	10082	GPC6	ORPHA:93329
HP:0000347	Micrognathia	1147	CHUK	OMIM:619339
HP:0000347	Micrognathia	1280	COL2A1	ORPHA:94068
HP:0000347	Micrognathia	1280	COL2A1	ORPHA:166100
HP:0000347	Micrognathia	1280	COL2A1	OMIM:108300
HP:0000347	Micrognathia	1280	COL2A1	ORPHA:93316
HP:0000347	Micrognathia	1280	COL2A1	ORPHA:93346
HP:0000347	Micrognathia	4141	MARS1	OMIM:620323
HP:0000347	Micrognathia	9719	ADAMTSL2	ORPHA:1901
HP:0000347	Micrognathia	9509	ADAMTS2	ORPHA:1901
HP:0000347	Micrognathia	9509	ADAMTS2	OMIM:225410
HP:0000347	Micrognathia	3481	IGF2	OMIM:180860
HP:0000347	Micrognathia	3481	IGF2	ORPHA:397590
HP:0000347	Micrognathia	8091	HMGA2	ORPHA:94063
HP:0000347	Micrognathia	8091	HMGA2	ORPHA:397590
HP:0000347	Micrognathia	23592	LEMD3	ORPHA:94063
HP:0000347	Micrognathia	26276	VPS33B	OMIM:208085
HP:0000347	Micrognathia	372	ARCN1	OMIM:617164
HP:0000347	Micrognathia	3977	LIFR	OMIM:601559
HP:0000347	Micrognathia	5277	PIGA	OMIM:300868
HP:0000347	Micrognathia	51305	KCNK9	ORPHA:166108
HP:0000347	Micrognathia	5144	PDE4D	ORPHA:439822
HP:0000347	Micrognathia	23384	SPECC1L	OMIM:145420
HP:0000347	Micrognathia	9244	CRLF1	OMIM:272430
HP:0000347	Micrognathia	9244	CRLF1	ORPHA:1545
HP:0000347	Micrognathia	9791	PTDSS1	OMIM:151050
HP:0000347	Micrognathia	80347	COASY	OMIM:618266
HP:0000347	Micrognathia	5281	PIGF	OMIM:619356
HP:0000347	Micrognathia	340419	RSPO2	OMIM:618021
HP:0000347	Micrognathia	340419	RSPO2	ORPHA:3301
HP:0000347	Micrognathia	51604	PIGT	ORPHA:369837
HP:0000347	Micrognathia	145173	B3GLCT	OMIM:261540
HP:0000347	Micrognathia	145173	B3GLCT	ORPHA:709
HP:0000347	Micrognathia	5530	PPP3CA	OMIM:618265
HP:0000347	Micrognathia	5530	PPP3CA	OMIM:617711
HP:0000347	Micrognathia	2132	EXT2	ORPHA:52022
HP:0000347	Micrognathia	60529	ALX4	ORPHA:52022
HP:0000347	Micrognathia	51317	PHF21A	ORPHA:52022
HP:0000347	Micrognathia	23405	DICER1	OMIM:618272
HP:0000347	Micrognathia	285590	SH3PXD2B	OMIM:249420
HP:0000347	Micrognathia	51715	RAB23	OMIM:201000
HP:0000347	Micrognathia	10651	MTX2	OMIM:619127
HP:0000347	Micrognathia	29123	ANKRD11	ORPHA:261250
HP:0000347	Micrognathia	10220	GDF11	OMIM:619122
HP:0000347	Micrognathia	90416	CCDC32	OMIM:619123
HP:0000347	Micrognathia	6329	SCN4A	OMIM:620351
HP:0000347	Micrognathia	6329	SCN4A	OMIM:620369
HP:0000347	Micrognathia	5080	PAX6	ORPHA:893
HP:0000347	Micrognathia	7490	WT1	ORPHA:893
HP:0000347	Micrognathia	627	BDNF	ORPHA:893
HP:0000347	Micrognathia	84905	ZNF341	OMIM:618282
HP:0000347	Micrognathia	1984	EIF5A	OMIM:619376
HP:0000347	Micrognathia	5236	PGM1	OMIM:614921
HP:0000347	Micrognathia	3295	HSD17B4	OMIM:261515
HP:0000347	Micrognathia	22800	RRAS2	ORPHA:648
HP:0000347	Micrognathia	867	CBL	ORPHA:648
HP:0000347	Micrognathia	6016	RIT1	ORPHA:648
HP:0000347	Micrognathia	6237	RRAS	ORPHA:648
HP:0000347	Micrognathia	5894	RAF1	ORPHA:648
HP:0000347	Micrognathia	22808	MRAS	ORPHA:648
HP:0000347	Micrognathia	3845	KRAS	ORPHA:648
HP:0000347	Micrognathia	200734	SPRED2	ORPHA:648
HP:0000347	Micrognathia	4893	NRAS	ORPHA:648
HP:0000347	Micrognathia	6654	SOS1	ORPHA:648
HP:0000347	Micrognathia	6655	SOS2	ORPHA:648
HP:0000347	Micrognathia	5781	PTPN11	ORPHA:648
HP:0000347	Micrognathia	5781	PTPN11	OMIM:163950
HP:0000347	Micrognathia	5922	RASA2	ORPHA:648
HP:0000347	Micrognathia	23299	BICD2	OMIM:618291
HP:0000347	Micrognathia	6913	TBX15	OMIM:260660
HP:0000347	Micrognathia	871	SERPINH1	OMIM:613848
HP:0000347	Micrognathia	3480	IGF1R	OMIM:270450
HP:0000347	Micrognathia	2690	GHR	ORPHA:633
HP:0000347	Micrognathia	121340	SP7	OMIM:613849
HP:0000347	Micrognathia	11198	SUPT16H	ORPHA:261229
HP:0000347	Micrognathia	57680	CHD8	ORPHA:261229
HP:0000347	Micrognathia	83483	PLVAP	OMIM:618183
HP:0000347	Micrognathia	10128	LRPPRC	OMIM:220111
HP:0000347	Micrognathia	199857	ALG14	OMIM:619036
HP:0000347	Micrognathia	10491	CRTAP	ORPHA:2050
HP:0000347	Micrognathia	9871	SEC24D	ORPHA:2050
HP:0000347	Micrognathia	775	CACNA1C	OMIM:620029
HP:0000347	Micrognathia	55624	POMGNT1	OMIM:253280
HP:0000347	Micrognathia	8854	ALDH1A2	OMIM:620025
HP:0000347	Micrognathia	10274	STAG1	ORPHA:502434
HP:0000347	Micrognathia	10992	SF3B2	OMIM:164210
HP:0000347	Micrognathia	2629	GBA1	OMIM:608013
HP:0000347	Micrognathia	8443	GNPAT	OMIM:222765
HP:0000347	Micrognathia	58	ACTA1	ORPHA:171436
HP:0000347	Micrognathia	58	ACTA1	ORPHA:2020
HP:0000347	Micrognathia	58	ACTA1	ORPHA:171439
HP:0000347	Micrognathia	7169	TPM2	ORPHA:171436
HP:0000347	Micrognathia	7169	TPM2	ORPHA:2020
HP:0000347	Micrognathia	7169	TPM2	ORPHA:1147
HP:0000347	Micrognathia	7169	TPM2	ORPHA:171439
HP:0000347	Micrognathia	4703	NEB	ORPHA:171436
HP:0000347	Micrognathia	4703	NEB	ORPHA:171439
HP:0000347	Micrognathia	10324	KLHL41	ORPHA:171436
HP:0000347	Micrognathia	10324	KLHL41	OMIM:615731
HP:0000347	Micrognathia	10324	KLHL41	ORPHA:171439
HP:0000347	Micrognathia	56203	LMOD3	ORPHA:171436
HP:0000347	Micrognathia	1073	CFL2	ORPHA:171436
HP:0000347	Micrognathia	22858	CILK1	OMIM:612651
HP:0000347	Micrognathia	3899	AFF3	OMIM:619297
HP:0000347	Micrognathia	3483	IGFALS	ORPHA:140941
HP:0000347	Micrognathia	283989	TSEN54	ORPHA:166063
HP:0000347	Micrognathia	57190	SELENON	ORPHA:2020
HP:0000347	Micrognathia	4633	MYL2	ORPHA:2020
HP:0000347	Micrognathia	3679	ITGA7	ORPHA:2020
HP:0000347	Micrognathia	9200	HACD1	ORPHA:2020
HP:0000347	Micrognathia	7170	TPM3	ORPHA:2020
HP:0000347	Micrognathia	7170	TPM3	ORPHA:171439
HP:0000347	Micrognathia	51776	MAP3K20	ORPHA:2020
HP:0000347	Micrognathia	29128	UHRF1	ORPHA:2268
HP:0000347	Micrognathia	3070	HELLS	ORPHA:2268
HP:0000347	Micrognathia	83879	CDCA7	ORPHA:2268
HP:0000347	Micrognathia	9841	ZBTB24	ORPHA:2268
HP:0000347	Micrognathia	26005	C2CD3	OMIM:615948
HP:0000347	Micrognathia	3265	HRAS	OMIM:218040
HP:0000347	Micrognathia	5826	ABCD4	OMIM:614857
HP:0000347	Micrognathia	26227	PHGDH	OMIM:256520
HP:0000347	Micrognathia	2615	LRRC32	OMIM:619074
HP:0000347	Micrognathia	1857	DVL3	ORPHA:3107
HP:0000347	Micrognathia	1857	DVL3	OMIM:616894
HP:0000347	Micrognathia	5828	PEX2	OMIM:614866
HP:0000347	Micrognathia	5828	PEX2	ORPHA:912
HP:0000347	Micrognathia	6804	STX1A	ORPHA:904
HP:0000347	Micrognathia	7461	CLIP2	ORPHA:904
HP:0000347	Micrognathia	84277	DNAJC30	ORPHA:904
HP:0000347	Micrognathia	8468	FKBP6	ORPHA:904
HP:0000347	Micrognathia	5982	RFC2	ORPHA:904
HP:0000347	Micrognathia	2969	GTF2I	ORPHA:904
HP:0000347	Micrognathia	3984	LIMK1	ORPHA:904
HP:0000347	Micrognathia	9569	GTF2IRD1	ORPHA:904
HP:0000347	Micrognathia	155382	VPS37D	ORPHA:904
HP:0000347	Micrognathia	155368	METTL27	ORPHA:904
HP:0000347	Micrognathia	114049	BUD23	ORPHA:904
HP:0000347	Micrognathia	7458	EIF4H	ORPHA:904
HP:0000347	Micrognathia	84163	GTF2IRD2	ORPHA:904
HP:0000347	Micrognathia	26608	TBL2	ORPHA:904
HP:0000347	Micrognathia	653361	NCF1	ORPHA:904
HP:0000347	Micrognathia	135886	TMEM270	ORPHA:904
HP:0000347	Micrognathia	9031	BAZ1B	ORPHA:904
HP:0000347	Micrognathia	2006	ELN	ORPHA:904
HP:0000347	Micrognathia	10290	SPEG	OMIM:615959
HP:0000347	Micrognathia	9289	ADGRG1	ORPHA:98889
HP:0000347	Micrognathia	27286	SRPX2	ORPHA:98889
HP:0000347	Micrognathia	157570	ESCO2	ORPHA:3103
HP:0000347	Micrognathia	157570	ESCO2	OMIM:268300
HP:0000347	Micrognathia	10236	HNRNPR	OMIM:620073
HP:0000347	Micrognathia	51611	DPH5	OMIM:620070
HP:0000347	Micrognathia	5700	PSMC1	OMIM:620071
HP:0000347	Micrognathia	728294	D2HGDH	OMIM:600721
HP:0000347	Micrognathia	2138	EYA1	ORPHA:52429
HP:0000347	Micrognathia	6495	SIX1	ORPHA:52429
HP:0000347	Micrognathia	6628	SNRPB	ORPHA:1393
HP:0000347	Micrognathia	6628	SNRPB	OMIM:117650
HP:0000347	Micrognathia	5159	PDGFRB	OMIM:601812
HP:0000347	Micrognathia	5594	MAPK1	OMIM:619087
HP:0000347	Micrognathia	1654	DDX3X	ORPHA:3338
HP:0000347	Micrognathia	1028	CDKN1C	ORPHA:397590
HP:0000347	Micrognathia	5324	PLAG1	ORPHA:397590
HP:0000347	Micrognathia	2065	ERBB3	OMIM:607598
HP:0000347	Micrognathia	23065	EMC1	ORPHA:480898
HP:0000347	Micrognathia	23065	EMC1	OMIM:616875
HP:0000347	Micrognathia	5295	PIK3R1	OMIM:269880
HP:0000347	Micrognathia	81031	SLC2A10	OMIM:208050
HP:0000347	Micrognathia	7140	TNNT3	ORPHA:1147
HP:0000347	Micrognathia	8504	PEX3	OMIM:614882
HP:0000347	Micrognathia	8504	PEX3	ORPHA:912
HP:0000347	Micrognathia	84665	MYPN	ORPHA:171439
HP:0000347	Micrognathia	390594	KBTBD13	ORPHA:171439
HP:0000347	Micrognathia	50628	GEMIN4	OMIM:617913
HP:0000347	Micrognathia	84570	COL25A1	ORPHA:1143
HP:0000347	Micrognathia	57222	ERGIC1	ORPHA:1143
HP:0000347	Micrognathia	5195	PEX14	OMIM:614887
HP:0000347	Micrognathia	5195	PEX14	ORPHA:912
HP:0000347	Micrognathia	4313	MMP2	OMIM:259600
HP:0000347	Micrognathia	9775	EIF4A3	OMIM:268305
HP:0000347	Micrognathia	2703	GJA8	OMIM:612474
HP:0000347	Micrognathia	2702	GJA5	OMIM:612474
HP:0000347	Micrognathia	7042	TGFB2	ORPHA:60030
HP:0000347	Micrognathia	7043	TGFB3	ORPHA:60030
HP:0000347	Micrognathia	4088	SMAD3	ORPHA:60030
HP:0000347	Micrognathia	27152	INTU	OMIM:617925
HP:0000347	Micrognathia	1297	COL9A1	ORPHA:250984
HP:0000347	Micrognathia	1298	COL9A2	ORPHA:250984
HP:0000347	Micrognathia	1299	COL9A3	ORPHA:250984
HP:0000347	Micrognathia	10664	CTCF	OMIM:615502
HP:0000347	Micrognathia	1144	CHRND	OMIM:253290
HP:0000347	Micrognathia	6497	SKI	ORPHA:2462
HP:0000347	Micrognathia	6497	SKI	OMIM:182212
HP:0000347	Micrognathia	55670	PEX26	ORPHA:912
HP:0000347	Micrognathia	5824	PEX19	ORPHA:912
HP:0000347	Micrognathia	8799	PEX11B	ORPHA:912
HP:0000347	Micrognathia	9409	PEX16	ORPHA:912
HP:0000347	Micrognathia	5190	PEX6	ORPHA:912
HP:0000347	Micrognathia	5193	PEX12	ORPHA:912
HP:0000347	Micrognathia	5194	PEX13	ORPHA:912
HP:0000347	Micrognathia	5192	PEX10	ORPHA:912
HP:0000347	Micrognathia	4038	LRP4	OMIM:212780
HP:0000347	Micrognathia	9780	PIEZO1	OMIM:616843
HP:0000347	Micrognathia	4683	NBN	OMIM:251260
HP:0000347	Micrognathia	100151683	RNU4ATAC	OMIM:210710
HP:0000347	Micrognathia	100151683	RNU4ATAC	ORPHA:2636
HP:0000347	Micrognathia	85358	SHANK3	OMIM:606232
HP:0000347	Micrognathia	91179	SCARF2	OMIM:600920
HP:0000347	Micrognathia	113179	ADAT3	ORPHA:363528
HP:0000347	Micrognathia	10525	HYOU1	OMIM:233600
HP:0000347	Micrognathia	55784	MCTP2	ORPHA:1596
HP:0000347	Micrognathia	30008	EFEMP2	OMIM:614437
HP:0000347	Micrognathia	91869	RFT1	OMIM:612015
HP:0000347	Micrognathia	5915	RARB	OMIM:615524
HP:0000347	Micrognathia	5053	PAH	ORPHA:2209
HP:0000347	Micrognathia	4297	KMT2A	OMIM:605130
HP:0000347	Micrognathia	101929726	MYMX	ORPHA:1358
HP:0000347	Micrognathia	101929726	MYMX	OMIM:619941
HP:0000347	Micrognathia	4204	MECP2	OMIM:300055
HP:0000347	Micrognathia	10265	IRX5	OMIM:611174
HP:0000347	Micrognathia	5925	RB1	ORPHA:1587
HP:0000347	Micrognathia	55603	TENT5A	OMIM:617952
HP:0000347	Micrognathia	1063	CENPF	OMIM:243605
HP:0000347	Micrognathia	64093	SMOC1	ORPHA:1106
HP:0000347	Micrognathia	91647	ATPAF2	OMIM:604273
HP:0000347	Micrognathia	5718	PSMD12	ORPHA:529962
HP:0000347	Micrognathia	5718	PSMD12	OMIM:617516
HP:0000347	Micrognathia	2186	BPTF	ORPHA:529962
HP:0000347	Micrognathia	2186	BPTF	OMIM:617755
HP:0000347	Micrognathia	84342	COG8	OMIM:611182
HP:0000347	Micrognathia	57572	DOCK6	OMIM:614219
HP:0000347	Micrognathia	29980	DONSON	OMIM:251230
HP:0000347	Micrognathia	29957	SLC25A24	OMIM:612289
HP:0000347	Micrognathia	4659	PPP1R12A	OMIM:618820
HP:0000347	Micrognathia	91461	PKDCC	OMIM:618821
HP:0000347	Micrognathia	285175	UNC80	ORPHA:371364
HP:0000347	Micrognathia	8405	SPOP	OMIM:618829
HP:0000347	Micrognathia	2260	FGFR1	ORPHA:2645
HP:0000347	Micrognathia	202018	TAPT1	OMIM:616897
HP:0000347	Micrognathia	7291	TWIST1	OMIM:617746
HP:0000347	Micrognathia	2767	GNA11	ORPHA:1556
HP:0000347	Micrognathia	151188	ARL6IP6	ORPHA:1556
HP:0000347	Micrognathia	1736	DKC1	OMIM:301108
HP:0000347	Micrognathia	440	ASNS	OMIM:615574
HP:0000347	Micrognathia	55023	PHIP	OMIM:617991
HP:0000347	Micrognathia	3664	IRF6	ORPHA:1300
HP:0000347	Micrognathia	7476	WNT7A	ORPHA:2879
HP:0000347	Micrognathia	8815	BANF1	OMIM:614008
HP:0000347	Micrognathia	4848	CNOT2	OMIM:618608
HP:0000347	Micrognathia	23529	CLCF1	ORPHA:1545
HP:0000347	Micrognathia	9469	CHST3	OMIM:245600
HP:0000347	Micrognathia	26229	B3GAT3	OMIM:245600
HP:0000347	Micrognathia	7543	ZFX	OMIM:301118
HP:0000347	Micrognathia	221927	BRAT1	OMIM:614498
HP:0000347	Micrognathia	6736	SRY	ORPHA:1772
HP:0000347	Micrognathia	5290	PIK3CA	OMIM:615108
HP:0000347	Micrognathia	207	AKT1	OMIM:615109
HP:0000347	Micrognathia	5604	MAP2K1	OMIM:163950
HP:0000347	Micrognathia	3166	HMX1	OMIM:612109
HP:0000347	Micrognathia	404672	GTF2H5	ORPHA:33364
HP:0000347	Micrognathia	833	CARS1	ORPHA:33364
HP:0000347	Micrognathia	7737	RNF113A	ORPHA:33364
HP:0000347	Micrognathia	136647	MPLKIP	ORPHA:33364
HP:0000347	Micrognathia	6897	TARS1	ORPHA:33364
HP:0000347	Micrognathia	16	AARS1	ORPHA:33364
HP:0000347	Micrognathia	2071	ERCC3	ORPHA:33364
HP:0000347	Micrognathia	2961	GTF2E2	ORPHA:33364
HP:0004440	Coronal craniosynostosis	7291	TWIST1	ORPHA:794
HP:0004440	Coronal craniosynostosis	7291	TWIST1	OMIM:101400
HP:0004440	Coronal craniosynostosis	2263	FGFR2	ORPHA:794
HP:0004440	Coronal craniosynostosis	2263	FGFR2	ORPHA:87
HP:0004440	Coronal craniosynostosis	2263	FGFR2	ORPHA:313855
HP:0004440	Coronal craniosynostosis	2263	FGFR2	OMIM:123500
HP:0004440	Coronal craniosynostosis	2263	FGFR2	OMIM:614592
HP:0004440	Coronal craniosynostosis	2263	FGFR2	OMIM:101600
HP:0004440	Coronal craniosynostosis	2263	FGFR2	OMIM:207410
HP:0004440	Coronal craniosynostosis	2263	FGFR2	OMIM:101400
HP:0004440	Coronal craniosynostosis	2263	FGFR2	OMIM:123150
HP:0004440	Coronal craniosynostosis	2263	FGFR2	OMIM:101200
HP:0004440	Coronal craniosynostosis	2261	FGFR3	ORPHA:794
HP:0004440	Coronal craniosynostosis	2261	FGFR3	ORPHA:53271
HP:0004440	Coronal craniosynostosis	2261	FGFR3	OMIM:602849
HP:0004440	Coronal craniosynostosis	2077	ERF	OMIM:600775
HP:0004440	Coronal craniosynostosis	1947	EFNB1	OMIM:304110
HP:0004440	Coronal craniosynostosis	29957	SLC25A24	ORPHA:2095
HP:0004440	Coronal craniosynostosis	29957	SLC25A24	OMIM:612289
HP:0004440	Coronal craniosynostosis	5034	P4HB	OMIM:112240
HP:0004440	Coronal craniosynostosis	3590	IL11RA	OMIM:614188
HP:0004440	Coronal craniosynostosis	6949	TCOF1	OMIM:154500
HP:0004440	Coronal craniosynostosis	5648	MASP1	OMIM:257920
HP:0004440	Coronal craniosynostosis	2961	GTF2E2	OMIM:616943
HP:0004440	Coronal craniosynostosis	147372	CCBE1	OMIM:235510
HP:0004440	Coronal craniosynostosis	1513	CTSK	ORPHA:763
HP:0004440	Coronal craniosynostosis	9401	RECQL4	OMIM:218600
HP:0004440	Coronal craniosynostosis	267010	RNU12	OMIM:603116
HP:0004440	Coronal craniosynostosis	267010	RNU12	ORPHA:85199
HP:0004440	Coronal craniosynostosis	9871	SEC24D	OMIM:616294
HP:0004440	Coronal craniosynostosis	51715	RAB23	OMIM:201000
HP:0004440	Coronal craniosynostosis	60529	ALX4	ORPHA:228390
HP:0004440	Coronal craniosynostosis	54928	BPNT2	OMIM:614078
HP:0004440	Coronal craniosynostosis	2260	FGFR1	OMIM:101600
HP:0004440	Coronal craniosynostosis	2260	FGFR1	OMIM:123150
HP:0004440	Coronal craniosynostosis	5447	POR	OMIM:207410
HP:0004440	Coronal craniosynostosis	23384	SPECC1L	OMIM:145420
HP:0004440	Coronal craniosynostosis	5422	POLA1	ORPHA:163976
HP:0004440	Coronal craniosynostosis	4488	MSX2	OMIM:604757
HP:0004440	Coronal craniosynostosis	153241	CEP120	OMIM:616300
HP:0004440	Coronal craniosynostosis	6608	SMO	OMIM:601707
HP:0004440	Coronal craniosynostosis	84720	PIGO	OMIM:614749
HP:0004440	Coronal craniosynostosis	9839	ZEB2	ORPHA:261537
HP:0004440	Coronal craniosynostosis	9839	ZEB2	ORPHA:261552
HP:0004440	Coronal craniosynostosis	7545	ZIC1	OMIM:618736
HP:0004440	Coronal craniosynostosis	7545	ZIC1	OMIM:616602
HP:0004440	Coronal craniosynostosis	6938	TCF12	OMIM:615314
HP:0004440	Coronal craniosynostosis	6938	TCF12	OMIM:619718
HP:0004440	Coronal craniosynostosis	222663	SCUBE3	OMIM:619184
HP:0004440	Coronal craniosynostosis	8294	H4C9	OMIM:619951
HP:0002676	Cloverleaf skull	2137	EXTL3	ORPHA:508533
HP:0002676	Cloverleaf skull	2137	EXTL3	OMIM:617425
HP:0002676	Cloverleaf skull	2261	FGFR3	OMIM:187601
HP:0002676	Cloverleaf skull	2261	FGFR3	OMIM:187600
HP:0002676	Cloverleaf skull	2261	FGFR3	OMIM:602849
HP:0002676	Cloverleaf skull	2261	FGFR3	ORPHA:1860
HP:0002676	Cloverleaf skull	2261	FGFR3	ORPHA:93274
HP:0002676	Cloverleaf skull	2263	FGFR2	ORPHA:87
HP:0002676	Cloverleaf skull	2263	FGFR2	ORPHA:1555
HP:0002676	Cloverleaf skull	2263	FGFR2	OMIM:101600
HP:0002676	Cloverleaf skull	2263	FGFR2	OMIM:123790
HP:0002676	Cloverleaf skull	2263	FGFR2	ORPHA:93259
HP:0002676	Cloverleaf skull	5447	POR	OMIM:201750
HP:0002676	Cloverleaf skull	2260	FGFR1	OMIM:101600
HP:0002676	Cloverleaf skull	2260	FGFR1	OMIM:166250
HP:0002676	Cloverleaf skull	57539	WDR35	OMIM:613610
HP:0002676	Cloverleaf skull	51715	RAB23	ORPHA:65759
HP:0002676	Cloverleaf skull	1954	MEGF8	ORPHA:65759
HP:0002677	Small foramen magnum	3187	HNRNPH1	OMIM:620083
HP:0002677	Small foramen magnum	2261	FGFR3	OMIM:187601
HP:0002677	Small foramen magnum	2261	FGFR3	OMIM:187600
HP:0002677	Small foramen magnum	2261	FGFR3	OMIM:616482
HP:0002677	Small foramen magnum	2261	FGFR3	OMIM:100800
HP:0002677	Small foramen magnum	3636	INPPL1	OMIM:258480
HP:0002677	Small foramen magnum	89970	RSPRY1	ORPHA:457395
HP:0002677	Small foramen magnum	55699	IARS2	OMIM:616007
HP:0002677	Small foramen magnum	56172	ANKH	OMIM:123000
HP:0002677	Small foramen magnum	2006	ELN	ORPHA:90348
HP:0002677	Small foramen magnum	10516	FBLN5	ORPHA:90348
HP:0002677	Small foramen magnum	5832	ALDH18A1	ORPHA:90348
HP:0002677	Small foramen magnum	5832	ALDH18A1	OMIM:616603
HP:0002677	Small foramen magnum	1108	CHD4	OMIM:617159
HP:0002677	Small foramen magnum	3930	LBR	OMIM:618019
HP:0002677	Small foramen magnum	2317	FLNB	OMIM:272460
HP:0002678	Skull asymmetry	5648	MASP1	OMIM:257920
HP:0002678	Skull asymmetry	2263	FGFR2	OMIM:101400
HP:0002678	Skull asymmetry	7291	TWIST1	OMIM:101400
HP:0002678	Skull asymmetry	78989	COLEC11	OMIM:265050
HP:0002678	Skull asymmetry	5885	RAD21	OMIM:614701
HP:0002678	Skull asymmetry	89970	RSPRY1	OMIM:616723
HP:0002678	Skull asymmetry	79068	FTO	OMIM:612938
HP:0002679	Abnormal sella turcica morphology	10273	STUB1	ORPHA:412057
HP:0002679	Abnormal sella turcica morphology	4125	MAN2B1	ORPHA:309282
HP:0002679	Abnormal sella turcica morphology	1009	CDH11	ORPHA:1299
HP:0002679	Abnormal sella turcica morphology	7080	NKX2-1	ORPHA:209905
HP:0002679	Abnormal sella turcica morphology	4094	MAF	ORPHA:1272
HP:0002679	Abnormal sella turcica morphology	10940	POP1	OMIM:617396
HP:0002679	Abnormal sella turcica morphology	10651	MTX2	OMIM:619127
HP:0002679	Abnormal sella turcica morphology	26503	SLC17A5	OMIM:269920
HP:0002679	Abnormal sella turcica morphology	8985	PLOD3	OMIM:612394
HP:0002679	Abnormal sella turcica morphology	2990	GUSB	OMIM:253220
HP:0002679	Abnormal sella turcica morphology	4591	TRIM37	OMIM:253250
HP:0002679	Abnormal sella turcica morphology	4591	TRIM37	ORPHA:2576
HP:0002679	Abnormal sella turcica morphology	65082	VPS33A	OMIM:617303
HP:0002679	Abnormal sella turcica morphology	6023	RMRP	OMIM:607095
HP:0002679	Abnormal sella turcica morphology	3425	IDUA	OMIM:607014
HP:0002679	Abnormal sella turcica morphology	23363	OBSL1	OMIM:612921
HP:0002679	Abnormal sella turcica morphology	9719	ADAMTSL2	OMIM:231050
HP:0002679	Abnormal sella turcica morphology	54808	DYM	OMIM:223800
HP:0002679	Abnormal sella turcica morphology	54808	DYM	OMIM:607326
HP:0002679	Abnormal sella turcica morphology	50964	SOST	OMIM:269500
HP:0002679	Abnormal sella turcica morphology	84196	USP48	ORPHA:96253
HP:0002679	Abnormal sella turcica morphology	7157	TP53	ORPHA:96253
HP:0002679	Abnormal sella turcica morphology	9101	USP8	ORPHA:96253
HP:0002679	Abnormal sella turcica morphology	64072	CDH23	ORPHA:96253
HP:0002679	Abnormal sella turcica morphology	2908	NR3C1	ORPHA:96253
HP:0002679	Abnormal sella turcica morphology	673	BRAF	ORPHA:96253
HP:0002679	Abnormal sella turcica morphology	546	ATRX	ORPHA:96253
HP:0002679	Abnormal sella turcica morphology	23102	TBC1D2B	ORPHA:397973
HP:0002679	Abnormal sella turcica morphology	5116	PCNT	OMIM:210720
HP:0002679	Abnormal sella turcica morphology	57688	ZSWIM6	ORPHA:1827
HP:0002679	Abnormal sella turcica morphology	57688	ZSWIM6	OMIM:603671
HP:0002679	Abnormal sella turcica morphology	2720	GLB1	ORPHA:79255
HP:0002679	Abnormal sella turcica morphology	79158	GNPTAB	OMIM:252500
HP:0002679	Abnormal sella turcica morphology	7252	TSHB	ORPHA:90674
HP:0002679	Abnormal sella turcica morphology	10060	ABCC9	OMIM:239850
HP:0002679	Abnormal sella turcica morphology	5727	PTCH1	ORPHA:377
HP:0002679	Abnormal sella turcica morphology	5727	PTCH1	OMIM:109400
HP:0002679	Abnormal sella turcica morphology	8643	PTCH2	ORPHA:377
HP:0002679	Abnormal sella turcica morphology	51684	SUFU	ORPHA:377
HP:0002679	Abnormal sella turcica morphology	4853	NOTCH2	OMIM:102500
HP:0002679	Abnormal sella turcica morphology	89884	LHX4	OMIM:262700
HP:0002679	Abnormal sella turcica morphology	652	BMP4	OMIM:607932
HP:0002679	Abnormal sella turcica morphology	8260	NAA10	OMIM:300855
HP:0002679	Abnormal sella turcica morphology	5832	ALDH18A1	OMIM:616603
HP:0002679	Abnormal sella turcica morphology	2316	FLNA	OMIM:304120
HP:0002679	Abnormal sella turcica morphology	1763	DNA2	OMIM:620819
HP:0002679	Abnormal sella turcica morphology	165	AEBP1	OMIM:618000
HP:0041058	Chronic decreased circulating IgG4	1380	CR2	OMIM:614699
HP:0041056	Hot cross bun sign	2495	FTH1	OMIM:620669
HP:0002680	J-shaped sella turcica	4094	MAF	ORPHA:1272
HP:0002680	J-shaped sella turcica	10940	POP1	OMIM:617396
HP:0002680	J-shaped sella turcica	10651	MTX2	OMIM:619127
HP:0002680	J-shaped sella turcica	26503	SLC17A5	OMIM:269920
HP:0002680	J-shaped sella turcica	8985	PLOD3	OMIM:612394
HP:0002680	J-shaped sella turcica	2990	GUSB	OMIM:253220
HP:0002680	J-shaped sella turcica	4591	TRIM37	OMIM:253250
HP:0002680	J-shaped sella turcica	4591	TRIM37	ORPHA:2576
HP:0002680	J-shaped sella turcica	65082	VPS33A	OMIM:617303
HP:0002680	J-shaped sella turcica	6023	RMRP	OMIM:607095
HP:0002680	J-shaped sella turcica	79158	GNPTAB	OMIM:252600
HP:0002680	J-shaped sella turcica	3425	IDUA	OMIM:607014
HP:0002680	J-shaped sella turcica	23363	OBSL1	OMIM:612921
HP:0002680	J-shaped sella turcica	9719	ADAMTSL2	OMIM:231050
HP:0002681	Deformed sella turcica	4094	MAF	ORPHA:1272
HP:0002681	Deformed sella turcica	10940	POP1	OMIM:617396
HP:0002681	Deformed sella turcica	10651	MTX2	OMIM:619127
HP:0002681	Deformed sella turcica	26503	SLC17A5	OMIM:269920
HP:0002681	Deformed sella turcica	8985	PLOD3	OMIM:612394
HP:0002681	Deformed sella turcica	2990	GUSB	OMIM:253220
HP:0002681	Deformed sella turcica	4591	TRIM37	OMIM:253250
HP:0002681	Deformed sella turcica	4591	TRIM37	ORPHA:2576
HP:0002681	Deformed sella turcica	65082	VPS33A	OMIM:617303
HP:0002681	Deformed sella turcica	6023	RMRP	OMIM:607095
HP:0002681	Deformed sella turcica	79158	GNPTAB	OMIM:252600
HP:0002681	Deformed sella turcica	3425	IDUA	OMIM:607014
HP:0002681	Deformed sella turcica	23363	OBSL1	OMIM:612921
HP:0002681	Deformed sella turcica	9719	ADAMTSL2	OMIM:231050
HP:0002681	Deformed sella turcica	54808	DYM	OMIM:223800
HP:0002681	Deformed sella turcica	54808	DYM	OMIM:607326
HP:0002681	Deformed sella turcica	5727	PTCH1	ORPHA:377
HP:0002681	Deformed sella turcica	5727	PTCH1	OMIM:109400
HP:0002681	Deformed sella turcica	8643	PTCH2	ORPHA:377
HP:0002681	Deformed sella turcica	51684	SUFU	ORPHA:377
HP:0002681	Deformed sella turcica	4853	NOTCH2	OMIM:102500
HP:0002681	Deformed sella turcica	5832	ALDH18A1	OMIM:616603
HP:0002681	Deformed sella turcica	2316	FLNA	OMIM:304120
HP:0002682	Broad skull	9361	LONP1	OMIM:600373
HP:0002682	Broad skull	2200	FBN1	OMIM:608328
HP:0002682	Broad skull	81794	ADAMTS10	OMIM:277600
HP:0002684	Thickened calvaria	2074	ERCC6	OMIM:133540
HP:0002684	Thickened calvaria	6424	SFRP4	OMIM:265900
HP:0002684	Thickened calvaria	4041	LRP5	ORPHA:178377
HP:0002684	Thickened calvaria	4041	LRP5	OMIM:607634
HP:0002684	Thickened calvaria	8905	AP1S2	ORPHA:85335
HP:0002684	Thickened calvaria	8905	AP1S2	OMIM:304340
HP:0002684	Thickened calvaria	9791	PTDSS1	ORPHA:2658
HP:0002684	Thickened calvaria	4038	LRP4	OMIM:614305
HP:0002684	Thickened calvaria	9842	PLEKHM1	OMIM:618107
HP:0002684	Thickened calvaria	84320	ACBD6	OMIM:620785
HP:0002684	Thickened calvaria	3248	HPGD	OMIM:259100
HP:0002684	Thickened calvaria	91147	TMEM67	OMIM:602152
HP:0002684	Thickened calvaria	5745	PTH1R	OMIM:600002
HP:0002684	Thickened calvaria	4125	MAN2B1	ORPHA:309282
HP:0002684	Thickened calvaria	4125	MAN2B1	OMIM:248500
HP:0002684	Thickened calvaria	26503	SLC17A5	OMIM:604369
HP:0002684	Thickened calvaria	4089	SMAD4	OMIM:139210
HP:0002684	Thickened calvaria	4841	NONO	OMIM:300967
HP:0002684	Thickened calvaria	4841	NONO	ORPHA:466791
HP:0002684	Thickened calvaria	4854	NOTCH3	OMIM:130720
HP:0002684	Thickened calvaria	1855	DVL1	OMIM:616331
HP:0002684	Thickened calvaria	79639	TMEM53	OMIM:619727
HP:0002684	Thickened calvaria	8312	AXIN1	OMIM:620558
HP:0002684	Thickened calvaria	2720	GLB1	ORPHA:79255
HP:0002684	Thickened calvaria	1161	ERCC8	OMIM:216400
HP:0002684	Thickened calvaria	79158	GNPTAB	OMIM:252500
HP:0002684	Thickened calvaria	11128	POLR3A	ORPHA:3455
HP:0002684	Thickened calvaria	57231	SNX14	ORPHA:397709
HP:0002684	Thickened calvaria	139285	AMER1	OMIM:300373
HP:0002684	Thickened calvaria	139285	AMER1	ORPHA:2780
HP:0002684	Thickened calvaria	54808	DYM	OMIM:223800
HP:0002684	Thickened calvaria	6197	RPS6KA3	OMIM:303600
HP:0002684	Thickened calvaria	64135	IFIH1	OMIM:182250
HP:0002684	Thickened calvaria	1301	COL11A1	OMIM:154780
HP:0002684	Thickened calvaria	1301	COL11A1	ORPHA:560
HP:0002684	Thickened calvaria	84295	PHF6	OMIM:301900
HP:0002684	Thickened calvaria	56172	ANKH	OMIM:123000
HP:0002684	Thickened calvaria	6611	SMS	OMIM:309583
HP:0002684	Thickened calvaria	166929	SGMS2	OMIM:126550
HP:0002684	Thickened calvaria	2778	GNAS	ORPHA:79443
HP:0002684	Thickened calvaria	2778	GNAS	OMIM:103580
HP:0002684	Thickened calvaria	4982	TNFRSF11B	OMIM:239000
HP:0002684	Thickened calvaria	860	RUNX2	OMIM:119600
HP:0002684	Thickened calvaria	5144	PDE4D	ORPHA:439822
HP:0002684	Thickened calvaria	1009	CDH11	ORPHA:1299
HP:0002684	Thickened calvaria	175	AGA	OMIM:208400
HP:0002684	Thickened calvaria	175	AGA	ORPHA:93
HP:0002684	Thickened calvaria	2316	FLNA	ORPHA:90650
HP:0002684	Thickened calvaria	2316	FLNA	ORPHA:90652
HP:0002684	Thickened calvaria	760	CA2	ORPHA:2785
HP:0002686	Pregnancy history	1374	CPT1A	OMIM:255120
HP:0002686	Pregnancy history	7355	SLC35A2	ORPHA:356961
HP:0002686	Pregnancy history	5053	PAH	OMIM:261600
HP:0002686	Pregnancy history	3030	HADHA	OMIM:609015
HP:0002686	Pregnancy history	4629	MYH11	ORPHA:91387
HP:0002686	Pregnancy history	7046	TGFBR1	ORPHA:91387
HP:0002686	Pregnancy history	7048	TGFBR2	ORPHA:91387
HP:0002686	Pregnancy history	4015	LOX	ORPHA:91387
HP:0002686	Pregnancy history	4087	SMAD2	ORPHA:91387
HP:0002686	Pregnancy history	7043	TGFB3	ORPHA:91387
HP:0002686	Pregnancy history	4088	SMAD3	ORPHA:91387
HP:0002686	Pregnancy history	7042	TGFB2	ORPHA:91387
HP:0002686	Pregnancy history	4089	SMAD4	ORPHA:91387
HP:0002686	Pregnancy history	2200	FBN1	ORPHA:91387
HP:0002686	Pregnancy history	59	ACTA2	ORPHA:91387
HP:0002686	Pregnancy history	5592	PRKG1	ORPHA:91387
HP:0002686	Pregnancy history	2301	FOXE3	ORPHA:91387
HP:0002686	Pregnancy history	4144	MAT2A	ORPHA:91387
HP:0002686	Pregnancy history	23493	HEY2	ORPHA:91387
HP:0002686	Pregnancy history	8076	MFAP5	ORPHA:91387
HP:0002686	Pregnancy history	4638	MYLK	ORPHA:91387
HP:0002686	Pregnancy history	79875	THSD4	ORPHA:91387
HP:0002686	Pregnancy history	2006	ELN	ORPHA:91387
HP:0002686	Pregnancy history	4846	NOS3	OMIM:189800
HP:0002686	Pregnancy history	3075	CFH	ORPHA:244242
HP:0002686	Pregnancy history	3426	CFI	ORPHA:244242
HP:0002686	Pregnancy history	4179	CD46	ORPHA:244242
HP:0002686	Pregnancy history	101101692	HELLPAR	ORPHA:244242
HP:0002686	Pregnancy history	4306	NR3C2	OMIM:605115
HP:0002686	Pregnancy history	55870	ASH1L	OMIM:617796
HP:0002686	Pregnancy history	6711	SPTBN1	OMIM:619475
HP:0002686	Pregnancy history	5447	POR	OMIM:201750
HP:0002686	Pregnancy history	5447	POR	ORPHA:95699
HP:0002686	Pregnancy history	1588	CYP19A1	ORPHA:91
HP:0002686	Pregnancy history	1583	CYP11A1	ORPHA:289548
HP:0002686	Pregnancy history	1583	CYP11A1	ORPHA:168558
HP:0002686	Pregnancy history	3767	KCNJ11	ORPHA:276580
HP:0002686	Pregnancy history	3767	KCNJ11	OMIM:610582
HP:0002686	Pregnancy history	3767	KCNJ11	OMIM:616329
HP:0002686	Pregnancy history	3767	KCNJ11	ORPHA:99886
HP:0002686	Pregnancy history	2260	FGFR1	ORPHA:280200
HP:0002686	Pregnancy history	2260	FGFR1	ORPHA:3157
HP:0002686	Pregnancy history	28514	DLL1	ORPHA:280200
HP:0002686	Pregnancy history	2253	FGF8	ORPHA:280200
HP:0002686	Pregnancy history	6496	SIX3	ORPHA:280200
HP:0002686	Pregnancy history	7050	TGIF1	ORPHA:280200
HP:0002686	Pregnancy history	4838	NODAL	ORPHA:280200
HP:0002686	Pregnancy history	6469	SHH	ORPHA:280200
HP:0002686	Pregnancy history	51684	SUFU	ORPHA:280200
HP:0002686	Pregnancy history	7546	ZIC2	ORPHA:280200
HP:0002686	Pregnancy history	2619	GAS1	ORPHA:280200
HP:0002686	Pregnancy history	84976	DISP1	ORPHA:280200
HP:0002686	Pregnancy history	2736	GLI2	ORPHA:280200
HP:0002686	Pregnancy history	8928	FOXH1	ORPHA:280200
HP:0002686	Pregnancy history	6997	CRIPTO	ORPHA:280200
HP:0002686	Pregnancy history	5727	PTCH1	ORPHA:280200
HP:0002686	Pregnancy history	50937	CDON	ORPHA:280200
HP:0002686	Pregnancy history	2215	FCGR3B	ORPHA:464370
HP:0002686	Pregnancy history	11330	CTRC	ORPHA:103918
HP:0002686	Pregnancy history	6690	SPINK1	ORPHA:103918
HP:0002686	Pregnancy history	8260	NAA10	OMIM:300855
HP:0002686	Pregnancy history	54973	INTS11	OMIM:620428
HP:0002686	Pregnancy history	5468	PPARG	ORPHA:79083
HP:0002686	Pregnancy history	5468	PPARG	OMIM:604367
HP:0002686	Pregnancy history	81839	VANGL1	ORPHA:3027
HP:0002686	Pregnancy history	80199	FUZ	ORPHA:3027
HP:0002686	Pregnancy history	4524	MTHFR	ORPHA:563612
HP:0002686	Pregnancy history	4524	MTHFR	ORPHA:563609
HP:0002686	Pregnancy history	57216	VANGL2	ORPHA:563612
HP:0002686	Pregnancy history	57216	VANGL2	ORPHA:563609
HP:0002686	Pregnancy history	23040	MYT1L	ORPHA:647799
HP:0002686	Pregnancy history	6927	HNF1A	ORPHA:324575
HP:0002686	Pregnancy history	2697	GJA1	ORPHA:2248
HP:0002686	Pregnancy history	1482	NKX2-5	ORPHA:2248
HP:0002686	Pregnancy history	128674	PROKR2	ORPHA:3157
HP:0002686	Pregnancy history	6657	SOX2	ORPHA:3157
HP:0002686	Pregnancy history	6658	SOX3	ORPHA:3157
HP:0002686	Pregnancy history	9915	ARNT2	ORPHA:3157
HP:0002686	Pregnancy history	8820	HESX1	ORPHA:3157
HP:0002686	Pregnancy history	5015	OTX2	ORPHA:3157
HP:0002686	Pregnancy history	1280	COL2A1	ORPHA:93346
HP:0002686	Pregnancy history	1188	CLCNKB	ORPHA:358
HP:0002686	Pregnancy history	6559	SLC12A3	ORPHA:358
HP:0002686	Pregnancy history	81788	NUAK2	ORPHA:563609
HP:0002686	Pregnancy history	346171	ZFP57	ORPHA:99886
HP:0002686	Pregnancy history	57061	HYMAI	ORPHA:99886
HP:0002686	Pregnancy history	6833	ABCC8	ORPHA:99886
HP:0002686	Pregnancy history	5325	PLAGL1	ORPHA:99886
HP:0002686	Pregnancy history	286204	CRB2	OMIM:219730
HP:0002686	Pregnancy history	11342	RNF13	ORPHA:544503
HP:0002686	Pregnancy history	3691	ITGB4	OMIM:226730
HP:0002686	Pregnancy history	5339	PLEC	OMIM:226730
HP:0002686	Pregnancy history	4952	OCRL	OMIM:309000
HP:0002686	Pregnancy history	3376	IARS1	OMIM:617093
HP:0002686	Pregnancy history	5626	PROP1	ORPHA:226307
HP:0002686	Pregnancy history	89884	LHX4	ORPHA:226307
HP:0002686	Pregnancy history	8022	LHX3	ORPHA:226307
HP:0002686	Pregnancy history	5449	POU1F1	ORPHA:226307
HP:0002686	Pregnancy history	405753	DUOXA2	ORPHA:95716
HP:0002686	Pregnancy history	6528	SLC5A5	ORPHA:95716
HP:0002686	Pregnancy history	7038	TG	ORPHA:95716
HP:0002686	Pregnancy history	7173	TPO	ORPHA:95716
HP:0002686	Pregnancy history	389434	IYD	ORPHA:95716
HP:0002686	Pregnancy history	50506	DUOX2	ORPHA:95716
HP:0002686	Pregnancy history	50506	DUOX2	ORPHA:226316
HP:0002686	Pregnancy history	7253	TSHR	ORPHA:90673
HP:0002686	Pregnancy history	7201	TRHR	ORPHA:99832
HP:0002686	Pregnancy history	7252	TSHB	ORPHA:90674
HP:0002686	Pregnancy history	4487	MSX1	ORPHA:199302
HP:0002686	Pregnancy history	5818	NECTIN1	ORPHA:199302
HP:0002686	Pregnancy history	8626	TP63	ORPHA:199302
HP:0002686	Pregnancy history	3664	IRF6	ORPHA:199302
HP:0002686	Pregnancy history	9518	GDF15	OMIM:620730
HP:0002686	Pregnancy history	4311	MME	ORPHA:69063
HP:0002686	Pregnancy history	462	SERPINC1	ORPHA:82
HP:0002686	Pregnancy history	25981	DNAH1	ORPHA:244
HP:0002686	Pregnancy history	115948	ODAD3	ORPHA:244
HP:0002686	Pregnancy history	54768	HYDIN	ORPHA:244
HP:0002686	Pregnancy history	352909	DNAAF3	ORPHA:244
HP:0002686	Pregnancy history	27148	STK36	ORPHA:244
HP:0002686	Pregnancy history	51314	NME8	ORPHA:244
HP:0002686	Pregnancy history	92749	DRC1	ORPHA:244
HP:0002686	Pregnancy history	54970	TTC12	ORPHA:244
HP:0002686	Pregnancy history	152110	NEK10	ORPHA:244
HP:0002686	Pregnancy history	8481	OFD1	ORPHA:244
HP:0002686	Pregnancy history	2302	FOXJ1	ORPHA:244
HP:0002686	Pregnancy history	221421	RSPH9	ORPHA:244
HP:0002686	Pregnancy history	85478	CCDC65	ORPHA:244
HP:0002686	Pregnancy history	55036	CCDC40	ORPHA:244
HP:0002686	Pregnancy history	51364	ZMYND10	ORPHA:244
HP:0002686	Pregnancy history	64446	DNAI2	ORPHA:244
HP:0002686	Pregnancy history	8382	NME5	ORPHA:244
HP:0002686	Pregnancy history	6674	SPAG1	ORPHA:244
HP:0002686	Pregnancy history	83544	DNAL1	ORPHA:244
HP:0002686	Pregnancy history	89765	RSPH1	ORPHA:244
HP:0002686	Pregnancy history	83538	ODAD4	ORPHA:244
HP:0002686	Pregnancy history	200373	CFAP221	ORPHA:244
HP:0002686	Pregnancy history	374407	DNAJB13	ORPHA:244
HP:0002686	Pregnancy history	55172	DNAAF2	ORPHA:244
HP:0002686	Pregnancy history	161582	DNAAF4	ORPHA:244
HP:0002686	Pregnancy history	2622	GAS8	ORPHA:244
HP:0002686	Pregnancy history	23639	DNAAF11	ORPHA:244
HP:0002686	Pregnancy history	27019	DNAI1	ORPHA:244
HP:0002686	Pregnancy history	345895	RSPH4A	ORPHA:244
HP:0002686	Pregnancy history	54919	DNAAF5	ORPHA:244
HP:0002686	Pregnancy history	6103	RPGR	ORPHA:244
HP:0002686	Pregnancy history	85452	CFAP74	ORPHA:244
HP:0002686	Pregnancy history	93233	ODAD1	ORPHA:244
HP:0002686	Pregnancy history	55130	ODAD2	ORPHA:244
HP:0002686	Pregnancy history	1767	DNAH5	ORPHA:244
HP:0002686	Pregnancy history	83861	RSPH3	ORPHA:244
HP:0002686	Pregnancy history	345643	MCIDAS	ORPHA:244
HP:0002686	Pregnancy history	56683	CFAP298	ORPHA:244
HP:0002686	Pregnancy history	79925	SPEF2	ORPHA:244
HP:0002686	Pregnancy history	10309	CCNO	ORPHA:244
HP:0002686	Pregnancy history	115399	LRRC56	ORPHA:244
HP:0002686	Pregnancy history	139212	DNAAF6	ORPHA:244
HP:0002686	Pregnancy history	123872	DNAAF1	ORPHA:244
HP:0002686	Pregnancy history	85016	CFAP300	ORPHA:244
HP:0002686	Pregnancy history	339829	CCDC39	ORPHA:244
HP:0002686	Pregnancy history	8701	DNAH11	ORPHA:244
HP:0002686	Pregnancy history	1770	DNAH9	ORPHA:244
HP:0002686	Pregnancy history	246176	GAS2L2	ORPHA:244
HP:0002686	Pregnancy history	219736	STOX1	OMIM:609404
HP:0002686	Pregnancy history	4000	LMNA	ORPHA:2348
HP:0002686	Pregnancy history	1725	DHPS	OMIM:618480
HP:0002686	Pregnancy history	2232	FDXR	ORPHA:543470
HP:0002686	Pregnancy history	10699	CORIN	OMIM:614595
HP:0002686	Pregnancy history	5205	ATP8B1	ORPHA:69665
HP:0002686	Pregnancy history	8647	ABCB11	ORPHA:69665
HP:0002686	Pregnancy history	5244	ABCB4	ORPHA:69665
HP:0002686	Pregnancy history	9971	NR1H4	ORPHA:69665
HP:0002686	Pregnancy history	2033	EP300	OMIM:613684
HP:0002686	Pregnancy history	57211	ADGRG6	OMIM:616503
HP:0002686	Pregnancy history	788	SLC25A20	ORPHA:159
HP:0002686	Pregnancy history	3039	HBA1	ORPHA:163596
HP:0002686	Pregnancy history	3040	HBA2	ORPHA:163596
HP:0002686	Pregnancy history	1584	CYP11B1	ORPHA:403
HP:0002686	Pregnancy history	1585	CYP11B2	ORPHA:403
HP:0002686	Pregnancy history	3930	LBR	OMIM:215140
HP:0002686	Pregnancy history	2153	F5	OMIM:614389
HP:0002686	Pregnancy history	2165	F13B	ORPHA:331
HP:0002686	Pregnancy history	2162	F13A1	ORPHA:331
HP:0002686	Pregnancy history	3350	HTR1A	OMIM:614674
HP:0002686	Pregnancy history	2161	F12	ORPHA:330
HP:0002686	Pregnancy history	79703	TOP6BL	OMIM:618432
HP:0002686	Pregnancy history	2147	F2	OMIM:614390
HP:0002686	Pregnancy history	308	ANXA5	OMIM:614391
HP:0002686	Pregnancy history	5167	ENPP1	ORPHA:51608
HP:0002686	Pregnancy history	368	ABCC6	ORPHA:51608
HP:0002686	Pregnancy history	50511	SYCP3	OMIM:270960
HP:0002687	Abnormality of frontal sinus	27019	DNAI1	OMIM:244400
HP:0002687	Abnormality of frontal sinus	1301	COL11A1	OMIM:154780
HP:0002687	Abnormality of frontal sinus	2316	FLNA	OMIM:305620
HP:0002687	Abnormality of frontal sinus	2316	FLNA	OMIM:311300
HP:0002687	Abnormality of frontal sinus	860	RUNX2	OMIM:119600
HP:0002687	Abnormality of frontal sinus	1513	CTSK	OMIM:265800
HP:0002687	Abnormality of frontal sinus	4591	TRIM37	OMIM:253250
HP:0002687	Abnormality of frontal sinus	4853	NOTCH2	OMIM:102500
HP:0002687	Abnormality of frontal sinus	4853	NOTCH2	ORPHA:955
HP:0002687	Abnormality of frontal sinus	546	ATRX	OMIM:301040
HP:0002687	Abnormality of frontal sinus	257	ALX3	OMIM:136760
HP:0002687	Abnormality of frontal sinus	257	ALX3	ORPHA:391474
HP:0002687	Abnormality of frontal sinus	175	AGA	OMIM:208400
HP:0002687	Abnormality of frontal sinus	6424	SFRP4	OMIM:265900
HP:0002687	Abnormality of frontal sinus	3759	KCNJ2	OMIM:170390
HP:0002687	Abnormality of frontal sinus	9526	MPDU1	ORPHA:79323
HP:0002687	Abnormality of frontal sinus	10736	SIX2	ORPHA:488437
HP:0002687	Abnormality of frontal sinus	8092	ALX1	ORPHA:306542
HP:0002688	Absent frontal sinuses	27019	DNAI1	OMIM:244400
HP:0002688	Absent frontal sinuses	1301	COL11A1	OMIM:154780
HP:0002688	Absent frontal sinuses	2316	FLNA	OMIM:305620
HP:0002688	Absent frontal sinuses	2316	FLNA	OMIM:311300
HP:0002688	Absent frontal sinuses	860	RUNX2	OMIM:119600
HP:0002688	Absent frontal sinuses	1513	CTSK	OMIM:265800
HP:0002688	Absent frontal sinuses	4591	TRIM37	OMIM:253250
HP:0002688	Absent frontal sinuses	4853	NOTCH2	OMIM:102500
HP:0002688	Absent frontal sinuses	4853	NOTCH2	ORPHA:955
HP:0002688	Absent frontal sinuses	546	ATRX	OMIM:301040
HP:0002689	Absent paranasal sinuses	860	RUNX2	OMIM:119600
HP:0002689	Absent paranasal sinuses	6424	SFRP4	OMIM:265900
HP:0041093	Beau's lines	5189	PEX1	OMIM:234580
HP:0041093	Beau's lines	5190	PEX6	OMIM:616617
HP:0002690	Large sella turcica	50964	SOST	OMIM:269500
HP:0002690	Large sella turcica	84196	USP48	ORPHA:96253
HP:0002690	Large sella turcica	7157	TP53	ORPHA:96253
HP:0002690	Large sella turcica	9101	USP8	ORPHA:96253
HP:0002690	Large sella turcica	64072	CDH23	ORPHA:96253
HP:0002690	Large sella turcica	2908	NR3C1	ORPHA:96253
HP:0002690	Large sella turcica	673	BRAF	ORPHA:96253
HP:0002690	Large sella turcica	546	ATRX	ORPHA:96253
HP:0002690	Large sella turcica	23102	TBC1D2B	ORPHA:397973
HP:0002690	Large sella turcica	5116	PCNT	OMIM:210720
HP:0002690	Large sella turcica	57688	ZSWIM6	ORPHA:1827
HP:0002690	Large sella turcica	57688	ZSWIM6	OMIM:603671
HP:0002690	Large sella turcica	2720	GLB1	ORPHA:79255
HP:0002690	Large sella turcica	79158	GNPTAB	OMIM:252500
HP:0002690	Large sella turcica	7252	TSHB	ORPHA:90674
HP:0002690	Large sella turcica	10060	ABCC9	OMIM:239850
HP:0002691	Platybasia	23387	SIK3	OMIM:618162
HP:0002691	Platybasia	25970	SH2B1	ORPHA:261197
HP:0002691	Platybasia	4854	NOTCH3	OMIM:130720
HP:0002691	Platybasia	3930	LBR	OMIM:618019
HP:0002691	Platybasia	4853	NOTCH2	ORPHA:955
HP:0002691	Platybasia	2317	FLNB	OMIM:272460
HP:0002691	Platybasia	1277	COL1A1	OMIM:259420
HP:0002691	Platybasia	1278	COL1A2	OMIM:259420
HP:0002691	Platybasia	1312	COMT	ORPHA:567
HP:0002691	Platybasia	221037	JMJD1C	ORPHA:567
HP:0002691	Platybasia	2812	GP1BB	ORPHA:567
HP:0002691	Platybasia	6239	RREB1	ORPHA:567
HP:0002691	Platybasia	6899	TBX1	ORPHA:567
HP:0002691	Platybasia	7290	HIRA	ORPHA:567
HP:0002691	Platybasia	9632	SEC24C	ORPHA:567
HP:0002691	Platybasia	7353	UFD1	ORPHA:567
HP:0002691	Platybasia	421	ARVCF	ORPHA:567
HP:0002692	Hypoplastic facial bones	9896	FIG4	OMIM:216340
HP:0002692	Hypoplastic facial bones	54808	DYM	OMIM:223800
HP:0002692	Hypoplastic facial bones	54808	DYM	OMIM:607326
HP:0002692	Hypoplastic facial bones	11128	POLR3A	OMIM:264090
HP:0002692	Hypoplastic facial bones	153241	CEP120	OMIM:616300
HP:0002692	Hypoplastic facial bones	4000	LMNA	OMIM:619793
HP:0002692	Hypoplastic facial bones	10992	SF3B2	OMIM:164210
HP:0002692	Hypoplastic facial bones	2260	FGFR1	OMIM:615465
HP:0002692	Hypoplastic facial bones	4524	MTHFR	ORPHA:563612
HP:0002692	Hypoplastic facial bones	57216	VANGL2	ORPHA:563612
HP:0002692	Hypoplastic facial bones	8092	ALX1	ORPHA:306542
HP:0002692	Hypoplastic facial bones	5727	PTCH1	OMIM:610828
HP:0002692	Hypoplastic facial bones	2736	GLI2	OMIM:610829
HP:0002692	Hypoplastic facial bones	64093	SMOC1	ORPHA:1106
HP:0002692	Hypoplastic facial bones	23019	CNOT1	ORPHA:556955
HP:0002692	Hypoplastic facial bones	23019	CNOT1	OMIM:618500
HP:0002692	Hypoplastic facial bones	157680	VPS13B	ORPHA:193
HP:0002692	Hypoplastic facial bones	51594	NBAS	OMIM:614800
HP:0002692	Hypoplastic facial bones	6804	STX1A	ORPHA:904
HP:0002692	Hypoplastic facial bones	7461	CLIP2	ORPHA:904
HP:0002692	Hypoplastic facial bones	84277	DNAJC30	ORPHA:904
HP:0002692	Hypoplastic facial bones	8468	FKBP6	ORPHA:904
HP:0002692	Hypoplastic facial bones	5982	RFC2	ORPHA:904
HP:0002692	Hypoplastic facial bones	2969	GTF2I	ORPHA:904
HP:0002692	Hypoplastic facial bones	3984	LIMK1	ORPHA:904
HP:0002692	Hypoplastic facial bones	9569	GTF2IRD1	ORPHA:904
HP:0002692	Hypoplastic facial bones	155382	VPS37D	ORPHA:904
HP:0002692	Hypoplastic facial bones	155368	METTL27	ORPHA:904
HP:0002692	Hypoplastic facial bones	114049	BUD23	ORPHA:904
HP:0002692	Hypoplastic facial bones	7458	EIF4H	ORPHA:904
HP:0002692	Hypoplastic facial bones	84163	GTF2IRD2	ORPHA:904
HP:0002692	Hypoplastic facial bones	26608	TBL2	ORPHA:904
HP:0002692	Hypoplastic facial bones	653361	NCF1	ORPHA:904
HP:0002692	Hypoplastic facial bones	135886	TMEM270	ORPHA:904
HP:0002692	Hypoplastic facial bones	9031	BAZ1B	ORPHA:904
HP:0002692	Hypoplastic facial bones	2006	ELN	ORPHA:904
HP:0002692	Hypoplastic facial bones	5604	MAP2K1	ORPHA:1340
HP:0002692	Hypoplastic facial bones	5605	MAP2K2	ORPHA:1340
HP:0002692	Hypoplastic facial bones	3845	KRAS	ORPHA:1340
HP:0002692	Hypoplastic facial bones	673	BRAF	ORPHA:1340
HP:0002692	Hypoplastic facial bones	90459	ERI1	OMIM:620663
HP:0002692	Hypoplastic facial bones	8481	OFD1	ORPHA:2750
HP:0002692	Hypoplastic facial bones	5184	PEPD	ORPHA:742
HP:0002692	Hypoplastic facial bones	51082	POLR1D	OMIM:613717
HP:0002692	Hypoplastic facial bones	51082	POLR1D	ORPHA:861
HP:0002692	Hypoplastic facial bones	117581	TWIST2	ORPHA:920
HP:0002692	Hypoplastic facial bones	117581	TWIST2	OMIM:200110
HP:0002692	Hypoplastic facial bones	10262	SF3B4	ORPHA:245
HP:0002692	Hypoplastic facial bones	84172	POLR1B	ORPHA:861
HP:0002692	Hypoplastic facial bones	9533	POLR1C	ORPHA:861
HP:0002692	Hypoplastic facial bones	9533	POLR1C	OMIM:248390
HP:0002692	Hypoplastic facial bones	6949	TCOF1	ORPHA:861
HP:0002692	Hypoplastic facial bones	1301	COL11A1	ORPHA:560
HP:0002692	Hypoplastic facial bones	2263	FGFR2	ORPHA:1555
HP:0002692	Hypoplastic facial bones	860	RUNX2	ORPHA:1452
HP:0002692	Hypoplastic facial bones	5818	NECTIN1	ORPHA:3253
HP:0002692	Hypoplastic facial bones	4853	NOTCH2	ORPHA:955
HP:0002692	Hypoplastic facial bones	55636	CHD7	ORPHA:138
HP:0002692	Hypoplastic facial bones	9723	SEMA3E	ORPHA:138
HP:0002693	Abnormal skull base morphology	9839	ZEB2	ORPHA:261537
HP:0002693	Abnormal skull base morphology	9839	ZEB2	ORPHA:261552
HP:0002693	Abnormal skull base morphology	23556	PIGN	ORPHA:280633
HP:0002693	Abnormal skull base morphology	1387	CREBBP	ORPHA:353281
HP:0002693	Abnormal skull base morphology	1387	CREBBP	ORPHA:353277
HP:0002693	Abnormal skull base morphology	4488	MSX2	ORPHA:60015
HP:0002693	Abnormal skull base morphology	60529	ALX4	ORPHA:60015
HP:0002693	Abnormal skull base morphology	91869	RFT1	ORPHA:244310
HP:0002693	Abnormal skull base morphology	2033	EP300	ORPHA:353284
HP:0002693	Abnormal skull base morphology	27077	B9D1	OMIM:614209
HP:0002693	Abnormal skull base morphology	10682	EBP	ORPHA:401973
HP:0002693	Abnormal skull base morphology	10682	EBP	OMIM:300960
HP:0002693	Abnormal skull base morphology	10682	EBP	OMIM:302960
HP:0002693	Abnormal skull base morphology	56896	DPYSL5	OMIM:619435
HP:0002693	Abnormal skull base morphology	56896	DPYSL5	ORPHA:7
HP:0002693	Abnormal skull base morphology	3265	HRAS	ORPHA:2612
HP:0002693	Abnormal skull base morphology	3845	KRAS	ORPHA:2612
HP:0002693	Abnormal skull base morphology	3845	KRAS	OMIM:609942
HP:0002693	Abnormal skull base morphology	4893	NRAS	ORPHA:2612
HP:0002693	Abnormal skull base morphology	4893	NRAS	OMIM:249400
HP:0002693	Abnormal skull base morphology	7355	SLC35A2	ORPHA:356961
HP:0002693	Abnormal skull base morphology	65062	TMEM237	OMIM:614424
HP:0002693	Abnormal skull base morphology	65062	TMEM237	ORPHA:564
HP:0002693	Abnormal skull base morphology	7545	ZIC1	OMIM:616602
HP:0002693	Abnormal skull base morphology	7545	ZIC1	OMIM:618736
HP:0002693	Abnormal skull base morphology	84942	WDR73	OMIM:251300
HP:0002693	Abnormal skull base morphology	2737	GLI3	ORPHA:36
HP:0002693	Abnormal skull base morphology	374654	KIF7	ORPHA:36
HP:0002693	Abnormal skull base morphology	9786	KIAA0586	ORPHA:397715
HP:0002693	Abnormal skull base morphology	57465	TBC1D24	OMIM:220500
HP:0002693	Abnormal skull base morphology	57465	TBC1D24	ORPHA:79500
HP:0002693	Abnormal skull base morphology	55112	DYNC2I1	ORPHA:93271
HP:0002693	Abnormal skull base morphology	57560	IFT80	ORPHA:93271
HP:0002693	Abnormal skull base morphology	57539	WDR35	ORPHA:93271
HP:0002693	Abnormal skull base morphology	79659	DYNC2H1	ORPHA:93271
HP:0002693	Abnormal skull base morphology	89891	DYNC2I2	ORPHA:93271
HP:0002693	Abnormal skull base morphology	1436	CSF1R	OMIM:618476
HP:0002693	Abnormal skull base morphology	84162	BLTP1	OMIM:617822
HP:0002693	Abnormal skull base morphology	4081	MAB21L1	OMIM:618479
HP:0002693	Abnormal skull base morphology	4081	MAB21L1	ORPHA:495875
HP:0002693	Abnormal skull base morphology	51259	TMEM216	OMIM:603194
HP:0002693	Abnormal skull base morphology	51259	TMEM216	ORPHA:564
HP:0002693	Abnormal skull base morphology	55636	CHD7	ORPHA:138
HP:0002693	Abnormal skull base morphology	9723	SEMA3E	ORPHA:138
HP:0002693	Abnormal skull base morphology	84892	POMGNT2	ORPHA:899
HP:0002693	Abnormal skull base morphology	148789	B3GALNT2	ORPHA:899
HP:0002693	Abnormal skull base morphology	1282	COL4A1	ORPHA:899
HP:0002693	Abnormal skull base morphology	729920	CRPPA	ORPHA:899
HP:0002693	Abnormal skull base morphology	729920	CRPPA	OMIM:614643
HP:0002693	Abnormal skull base morphology	10329	RXYLT1	ORPHA:899
HP:0002693	Abnormal skull base morphology	1605	DAG1	ORPHA:899
HP:0002693	Abnormal skull base morphology	11041	B4GAT1	ORPHA:899
HP:0002693	Abnormal skull base morphology	11041	B4GAT1	OMIM:615287
HP:0002693	Abnormal skull base morphology	84197	POMK	ORPHA:899
HP:0002693	Abnormal skull base morphology	55624	POMGNT1	ORPHA:899
HP:0002693	Abnormal skull base morphology	79068	FTO	OMIM:612938
HP:0002693	Abnormal skull base morphology	57492	ARID1B	OMIM:135900
HP:0002693	Abnormal skull base morphology	57492	ARID1B	ORPHA:1465
HP:0002693	Abnormal skull base morphology	3899	AFF3	OMIM:619297
HP:0002693	Abnormal skull base morphology	25885	POLR1A	OMIM:616462
HP:0002693	Abnormal skull base morphology	6597	SMARCA4	ORPHA:1465
HP:0002693	Abnormal skull base morphology	6597	SMARCA4	OMIM:614609
HP:0002693	Abnormal skull base morphology	6598	SMARCB1	ORPHA:1465
HP:0002693	Abnormal skull base morphology	6598	SMARCB1	OMIM:614608
HP:0002693	Abnormal skull base morphology	6659	SOX4	ORPHA:1465
HP:0002693	Abnormal skull base morphology	8289	ARID1A	ORPHA:1465
HP:0002693	Abnormal skull base morphology	8289	ARID1A	OMIM:614607
HP:0002693	Abnormal skull base morphology	5977	DPF2	ORPHA:1465
HP:0002693	Abnormal skull base morphology	6601	SMARCC2	ORPHA:1465
HP:0002693	Abnormal skull base morphology	6602	SMARCD1	ORPHA:1465
HP:0002693	Abnormal skull base morphology	196528	ARID2	ORPHA:1465
HP:0002693	Abnormal skull base morphology	6605	SMARCE1	ORPHA:1465
HP:0002693	Abnormal skull base morphology	6605	SMARCE1	OMIM:616938
HP:0002693	Abnormal skull base morphology	6664	SOX11	ORPHA:1465
HP:0002693	Abnormal skull base morphology	23545	ATP6V0A2	ORPHA:2834
HP:0002693	Abnormal skull base morphology	23545	ATP6V0A2	OMIM:219200
HP:0002693	Abnormal skull base morphology	23545	ATP6V0A2	ORPHA:357074
HP:0002693	Abnormal skull base morphology	27315	PGAP2	OMIM:614207
HP:0002693	Abnormal skull base morphology	157570	ESCO2	ORPHA:2319
HP:0002693	Abnormal skull base morphology	5340	PLG	ORPHA:722
HP:0002693	Abnormal skull base morphology	5340	PLG	OMIM:217090
HP:0002693	Abnormal skull base morphology	1717	DHCR7	OMIM:270400
HP:0002693	Abnormal skull base morphology	84314	TMEM107	ORPHA:564
HP:0002693	Abnormal skull base morphology	26123	TCTN3	ORPHA:564
HP:0002693	Abnormal skull base morphology	79867	TCTN2	ORPHA:564
HP:0002693	Abnormal skull base morphology	80776	B9D2	ORPHA:564
HP:0002693	Abnormal skull base morphology	80776	B9D2	OMIM:614175
HP:0002693	Abnormal skull base morphology	79600	TCTN1	ORPHA:564
HP:0002693	Abnormal skull base morphology	57096	RPGRIP1	ORPHA:564
HP:0002693	Abnormal skull base morphology	80184	CEP290	ORPHA:564
HP:0002693	Abnormal skull base morphology	80184	CEP290	OMIM:611134
HP:0002693	Abnormal skull base morphology	57545	CC2D2A	ORPHA:564
HP:0002693	Abnormal skull base morphology	79583	TMEM231	ORPHA:564
HP:0002693	Abnormal skull base morphology	91147	TMEM67	ORPHA:564
HP:0002693	Abnormal skull base morphology	91147	TMEM67	OMIM:607361
HP:0002693	Abnormal skull base morphology	79770	TXNDC15	ORPHA:564
HP:0002693	Abnormal skull base morphology	23322	RPGRIP1L	ORPHA:564
HP:0002693	Abnormal skull base morphology	54903	MKS1	ORPHA:564
HP:0002693	Abnormal skull base morphology	54903	MKS1	OMIM:249000
HP:0002693	Abnormal skull base morphology	27031	NPHP3	OMIM:267010
HP:0002693	Abnormal skull base morphology	27031	NPHP3	OMIM:208540
HP:0002693	Abnormal skull base morphology	27031	NPHP3	ORPHA:3032
HP:0002693	Abnormal skull base morphology	23258	DENND5A	OMIM:617281
HP:0002693	Abnormal skull base morphology	171023	ASXL1	ORPHA:97297
HP:0002693	Abnormal skull base morphology	171023	ASXL1	OMIM:605039
HP:0002693	Abnormal skull base morphology	9184	BUB3	ORPHA:1052
HP:0002693	Abnormal skull base morphology	699	BUB1	ORPHA:1052
HP:0002693	Abnormal skull base morphology	9702	CEP57	ORPHA:1052
HP:0002693	Abnormal skull base morphology	9319	TRIP13	ORPHA:1052
HP:0002693	Abnormal skull base morphology	701	BUB1B	ORPHA:1052
HP:0002693	Abnormal skull base morphology	701	BUB1B	OMIM:257300
HP:0002693	Abnormal skull base morphology	84342	COG8	OMIM:611182
HP:0002693	Abnormal skull base morphology	84188	FAR1	ORPHA:438178
HP:0002693	Abnormal skull base morphology	84188	FAR1	OMIM:616154
HP:0002693	Abnormal skull base morphology	2260	FGFR1	OMIM:613001
HP:0002693	Abnormal skull base morphology	124997	WDR81	OMIM:617967
HP:0002693	Abnormal skull base morphology	2683	B4GALT1	OMIM:607091
HP:0002693	Abnormal skull base morphology	2683	B4GALT1	ORPHA:79332
HP:0002693	Abnormal skull base morphology	26005	C2CD3	OMIM:615948
HP:0002693	Abnormal skull base morphology	26005	C2CD3	ORPHA:434179
HP:0002693	Abnormal skull base morphology	26227	PHGDH	OMIM:256520
HP:0002693	Abnormal skull base morphology	10804	GJB6	ORPHA:477
HP:0002693	Abnormal skull base morphology	2706	GJB2	ORPHA:477
HP:0002693	Abnormal skull base morphology	55605	KIF21A	ORPHA:994
HP:0002693	Abnormal skull base morphology	4927	NUP88	ORPHA:994
HP:0002693	Abnormal skull base morphology	7846	TUBA1A	ORPHA:994
HP:0002693	Abnormal skull base morphology	4654	MYOD1	ORPHA:994
HP:0002693	Abnormal skull base morphology	54551	MAGEL2	ORPHA:994
HP:0002693	Abnormal skull base morphology	4593	MUSK	ORPHA:994
HP:0002693	Abnormal skull base morphology	5913	RAPSN	ORPHA:994
HP:0002693	Abnormal skull base morphology	6572	SLC18A3	ORPHA:994
HP:0002693	Abnormal skull base morphology	285489	DOK7	ORPHA:994
HP:0002693	Abnormal skull base morphology	23126	POGZ	OMIM:616364
HP:0002693	Abnormal skull base morphology	7737	RNF113A	OMIM:300953
HP:0002693	Abnormal skull base morphology	56006	SMG9	OMIM:616920
HP:0002693	Abnormal skull base morphology	998	CDC42	ORPHA:487796
HP:0002693	Abnormal skull base morphology	51524	TMEM138	OMIM:614465
HP:0002693	Abnormal skull base morphology	8239	USP9X	ORPHA:480880
HP:0002693	Abnormal skull base morphology	8239	USP9X	OMIM:300968
HP:0002693	Abnormal skull base morphology	11128	POLR3A	OMIM:264090
HP:0002693	Abnormal skull base morphology	4534	MTM1	OMIM:310400
HP:0002693	Abnormal skull base morphology	526	ATP6V1B2	ORPHA:79500
HP:0002693	Abnormal skull base morphology	54880	BCOR	OMIM:300166
HP:0002693	Abnormal skull base morphology	203068	TUBB	OMIM:156610
HP:0002693	Abnormal skull base morphology	55640	FLVCR2	OMIM:225790
HP:0002693	Abnormal skull base morphology	28952	CCDC22	OMIM:300963
HP:0002693	Abnormal skull base morphology	28952	CCDC22	ORPHA:7
HP:0002693	Abnormal skull base morphology	1654	DDX3X	ORPHA:3338
HP:0002693	Abnormal skull base morphology	80210	ARMC9	OMIM:617622
HP:0002693	Abnormal skull base morphology	5500	PPP1CB	OMIM:617506
HP:0002693	Abnormal skull base morphology	54676	GTPBP2	OMIM:617988
HP:0002693	Abnormal skull base morphology	5373	PMM2	ORPHA:79318
HP:0002693	Abnormal skull base morphology	63895	PIEZO2	OMIM:248700
HP:0002693	Abnormal skull base morphology	2239	GPC4	ORPHA:373
HP:0002693	Abnormal skull base morphology	2719	GPC3	ORPHA:373
HP:0002693	Abnormal skull base morphology	132884	EVC2	OMIM:225500
HP:0002693	Abnormal skull base morphology	2121	EVC	OMIM:225500
HP:0002693	Abnormal skull base morphology	153241	CEP120	OMIM:616300
HP:0002693	Abnormal skull base morphology	523	ATP6V1A	ORPHA:357074
HP:0002693	Abnormal skull base morphology	529	ATP6V1E1	ORPHA:357074
HP:0002693	Abnormal skull base morphology	3798	KIF5A	OMIM:617235
HP:0002693	Abnormal skull base morphology	1028	CDKN1C	OMIM:130650
HP:0002693	Abnormal skull base morphology	3481	IGF2	OMIM:130650
HP:0002693	Abnormal skull base morphology	3784	KCNQ1	OMIM:130650
HP:0002693	Abnormal skull base morphology	10984	KCNQ1OT1	OMIM:130650
HP:0002693	Abnormal skull base morphology	738	VPS51	OMIM:618606
HP:0002693	Abnormal skull base morphology	1376	CPT2	ORPHA:228305
HP:0002693	Abnormal skull base morphology	10195	ALG3	ORPHA:79321
HP:0002693	Abnormal skull base morphology	8481	OFD1	ORPHA:2750
HP:0002693	Abnormal skull base morphology	57020	VPS35L	ORPHA:7
HP:0002693	Abnormal skull base morphology	4281	MID1	ORPHA:2745
HP:0002693	Abnormal skull base morphology	8905	AP1S2	OMIM:304340
HP:0002693	Abnormal skull base morphology	11340	EXOSC8	OMIM:616081
HP:0002693	Abnormal skull base morphology	3572	IL6ST	OMIM:619751
HP:0002693	Abnormal skull base morphology	26235	FBXL4	OMIM:615471
HP:0002693	Abnormal skull base morphology	65250	CPLANE1	OMIM:277170
HP:0002693	Abnormal skull base morphology	348180	CTU2	OMIM:618142
HP:0002693	Abnormal skull base morphology	23241	PACS2	OMIM:618067
HP:0002693	Abnormal skull base morphology	27247	NFU1	OMIM:620938
HP:0002693	Abnormal skull base morphology	1859	DYRK1A	OMIM:614104
HP:0002693	Abnormal skull base morphology	22931	RAB18	OMIM:614222
HP:0002693	Abnormal skull base morphology	1317	SLC31A1	OMIM:620306
HP:0002693	Abnormal skull base morphology	2972	BRF1	OMIM:616202
HP:0002693	Abnormal skull base morphology	2972	BRF1	ORPHA:444072
HP:0002693	Abnormal skull base morphology	4983	OPHN1	ORPHA:137831
HP:0002693	Abnormal skull base morphology	4983	OPHN1	OMIM:300486
HP:0002693	Abnormal skull base morphology	253738	EBF3	ORPHA:96148
HP:0002693	Abnormal skull base morphology	64324	NSD1	ORPHA:821
HP:0002693	Abnormal skull base morphology	64324	NSD1	OMIM:117550
HP:0002693	Abnormal skull base morphology	10297	APC2	ORPHA:821
HP:0002693	Abnormal skull base morphology	26576	SRPK3	OMIM:301134
HP:0002693	Abnormal skull base morphology	51611	DPH5	OMIM:620070
HP:0002693	Abnormal skull base morphology	128869	PIGU	OMIM:618590
HP:0002693	Abnormal skull base morphology	285590	SH3PXD2B	OMIM:249420
HP:0002693	Abnormal skull base morphology	10300	KATNB1	OMIM:616212
HP:0002693	Abnormal skull base morphology	2317	FLNB	ORPHA:1190
HP:0002693	Abnormal skull base morphology	4849	CNOT3	OMIM:618672
HP:0002693	Abnormal skull base morphology	7443	VRK1	OMIM:607596
HP:0002693	Abnormal skull base morphology	10978	CLP1	OMIM:615803
HP:0002693	Abnormal skull base morphology	9382	COG1	ORPHA:263508
HP:0002693	Abnormal skull base morphology	80267	EDEM3	OMIM:619493
HP:0002693	Abnormal skull base morphology	4718	NDUFC2	OMIM:619170
HP:0002693	Abnormal skull base morphology	5879	RAC1	OMIM:617751
HP:0002693	Abnormal skull base morphology	5879	RAC1	ORPHA:500159
HP:0002693	Abnormal skull base morphology	4125	MAN2B1	OMIM:248500
HP:0002693	Abnormal skull base morphology	267010	RNU12	OMIM:620208
HP:0002693	Abnormal skull base morphology	8815	BANF1	OMIM:614008
HP:0002693	Abnormal skull base morphology	23219	FBXO28	OMIM:619777
HP:0002693	Abnormal skull base morphology	93627	TBCK	OMIM:616900
HP:0002693	Abnormal skull base morphology	51684	SUFU	OMIM:617757
HP:0002693	Abnormal skull base morphology	284086	NEK8	OMIM:615415
HP:0002693	Abnormal skull base morphology	5430	POLR2A	OMIM:618603
HP:0002693	Abnormal skull base morphology	1000	CDH2	OMIM:618929
HP:0002693	Abnormal skull base morphology	501	ALDH7A1	ORPHA:3006
HP:0002693	Abnormal skull base morphology	11212	PLPBP	ORPHA:3006
HP:0002693	Abnormal skull base morphology	5832	ALDH18A1	ORPHA:447753
HP:0002693	Abnormal skull base morphology	37	ACADVL	ORPHA:26793
HP:0002693	Abnormal skull base morphology	2296	FOXC1	OMIM:601631
HP:0002693	Abnormal skull base morphology	25970	SH2B1	ORPHA:261197
HP:0002693	Abnormal skull base morphology	5307	PITX1	OMIM:119800
HP:0002693	Abnormal skull base morphology	8884	SLC5A6	OMIM:618973
HP:0002693	Abnormal skull base morphology	23203	PMPCA	ORPHA:1170
HP:0002693	Abnormal skull base morphology	51300	TIMMDC1	OMIM:618251
HP:0002693	Abnormal skull base morphology	7543	ZFX	OMIM:301118
HP:0002693	Abnormal skull base morphology	57716	PRX	OMIM:614895
HP:0002693	Abnormal skull base morphology	8550	MAPKAPK5	OMIM:619869
HP:0002693	Abnormal skull base morphology	55361	PI4K2A	OMIM:620732
HP:0002693	Abnormal skull base morphology	1974	EIF4A2	OMIM:620455
HP:0002693	Abnormal skull base morphology	26834	RNU4-2	OMIM:620851
HP:0002693	Abnormal skull base morphology	10736	SIX2	ORPHA:488437
HP:0002693	Abnormal skull base morphology	2778	GNAS	ORPHA:562
HP:0002693	Abnormal skull base morphology	6913	TBX15	ORPHA:93333
HP:0002693	Abnormal skull base morphology	139285	AMER1	OMIM:300373
HP:0002693	Abnormal skull base morphology	3930	LBR	OMIM:215140
HP:0002693	Abnormal skull base morphology	23387	SIK3	OMIM:618162
HP:0002693	Abnormal skull base morphology	54	ACP5	OMIM:607944
HP:0002693	Abnormal skull base morphology	4854	NOTCH3	OMIM:130720
HP:0002693	Abnormal skull base morphology	7040	TGFB1	OMIM:131300
HP:0002693	Abnormal skull base morphology	79639	TMEM53	OMIM:619727
HP:0002693	Abnormal skull base morphology	56172	ANKH	OMIM:123000
HP:0002693	Abnormal skull base morphology	8792	TNFRSF11A	OMIM:602080
HP:0002693	Abnormal skull base morphology	2316	FLNA	ORPHA:1826
HP:0002693	Abnormal skull base morphology	2316	FLNA	OMIM:304120
HP:0002693	Abnormal skull base morphology	6885	MAP3K7	ORPHA:1826
HP:0002693	Abnormal skull base morphology	26040	SETBP1	OMIM:269150
HP:0002693	Abnormal skull base morphology	26040	SETBP1	ORPHA:798
HP:0002693	Abnormal skull base morphology	388015	RTL1	ORPHA:96334
HP:0002693	Abnormal skull base morphology	8788	DLK1	ORPHA:96334
HP:0002693	Abnormal skull base morphology	55384	MEG3	ORPHA:96334
HP:0002693	Abnormal skull base morphology	6522	SLC4A2	OMIM:620366
HP:0002693	Abnormal skull base morphology	5745	PTH1R	OMIM:156400
HP:0002693	Abnormal skull base morphology	7280	TUBB2A	OMIM:615763
HP:0002693	Abnormal skull base morphology	55777	MBD5	OMIM:156200
HP:0002693	Abnormal skull base morphology	157922	CAMSAP1	OMIM:620316
HP:0002693	Abnormal skull base morphology	10060	ABCC9	OMIM:239850
HP:0002693	Abnormal skull base morphology	9791	PTDSS1	OMIM:151050
HP:0002693	Abnormal skull base morphology	22943	DKK1	ORPHA:268882
HP:0002693	Abnormal skull base morphology	4853	NOTCH2	OMIM:102500
HP:0002693	Abnormal skull base morphology	26137	ZBTB20	OMIM:259050
HP:0002693	Abnormal skull base morphology	1277	COL1A1	OMIM:259420
HP:0002693	Abnormal skull base morphology	1278	COL1A2	OMIM:259420
HP:0002693	Abnormal skull base morphology	9897	WASHC5	OMIM:220210
HP:0002693	Abnormal skull base morphology	2073	ERCC5	OMIM:616570
HP:0002693	Abnormal skull base morphology	30813	VSX1	OMIM:614195
HP:0002693	Abnormal skull base morphology	23007	PLCH1	OMIM:619895
HP:0002693	Abnormal skull base morphology	392255	GDF6	OMIM:118100
HP:0002693	Abnormal skull base morphology	5159	PDGFRB	OMIM:601812
HP:0002693	Abnormal skull base morphology	18	ABAT	OMIM:613163
HP:0002693	Abnormal skull base morphology	727676	SNORD118	ORPHA:542310
HP:0002693	Abnormal skull base morphology	79848	CSPP1	OMIM:615636
HP:0002693	Abnormal skull base morphology	1801	DPH1	ORPHA:459061
HP:0002693	Abnormal skull base morphology	1802	DPH2	ORPHA:459061
HP:0002693	Abnormal skull base morphology	29954	POMT2	OMIM:236670
HP:0002693	Abnormal skull base morphology	79147	FKRP	OMIM:236670
HP:0002693	Abnormal skull base morphology	2218	FKTN	OMIM:236670
HP:0002693	Abnormal skull base morphology	10585	POMT1	OMIM:236670
HP:0002693	Abnormal skull base morphology	9215	LARGE1	OMIM:236670
HP:0002693	Abnormal skull base morphology	2263	FGFR2	OMIM:101200
HP:0002693	Abnormal skull base morphology	219844	HYLS1	OMIM:236680
HP:0002693	Abnormal skull base morphology	57688	ZSWIM6	OMIM:603671
HP:0002693	Abnormal skull base morphology	126792	B3GALT6	ORPHA:536467
HP:0002693	Abnormal skull base morphology	55719	SLF2	OMIM:620184
HP:0002693	Abnormal skull base morphology	4617	MYF5	OMIM:618155
HP:0002693	Abnormal skull base morphology	22827	PUF60	ORPHA:508498
HP:0002693	Abnormal skull base morphology	8496	PPFIBP1	OMIM:620024
HP:0002693	Abnormal skull base morphology	4361	MRE11	ORPHA:251347
HP:0002693	Abnormal skull base morphology	129685	TAF8	OMIM:619972
HP:0002693	Abnormal skull base morphology	6658	SOX3	ORPHA:67045
HP:0002693	Abnormal skull base morphology	2248	FGF3	OMIM:610706
HP:0002697	Parietal foramina	7291	TWIST1	ORPHA:794
HP:0002697	Parietal foramina	7291	TWIST1	OMIM:101400
HP:0002697	Parietal foramina	2263	FGFR2	ORPHA:794
HP:0002697	Parietal foramina	2263	FGFR2	OMIM:101400
HP:0002697	Parietal foramina	2261	FGFR3	ORPHA:794
HP:0002697	Parietal foramina	267010	RNU12	OMIM:603116
HP:0002697	Parietal foramina	267010	RNU12	ORPHA:85199
HP:0002697	Parietal foramina	8493	PPM1D	OMIM:617450
HP:0002697	Parietal foramina	4488	MSX2	ORPHA:60015
HP:0002697	Parietal foramina	4488	MSX2	OMIM:168550
HP:0002697	Parietal foramina	4488	MSX2	OMIM:168500
HP:0002697	Parietal foramina	60529	ALX4	ORPHA:60015
HP:0002697	Parietal foramina	60529	ALX4	OMIM:613451
HP:0002697	Parietal foramina	60529	ALX4	OMIM:609597
HP:0002697	Parietal foramina	60529	ALX4	ORPHA:52022
HP:0002697	Parietal foramina	2033	EP300	OMIM:180849
HP:0002697	Parietal foramina	1387	CREBBP	OMIM:180849
HP:0002697	Parietal foramina	7545	ZIC1	OMIM:616602
HP:0002697	Parietal foramina	57688	ZSWIM6	OMIM:603671
HP:0002697	Parietal foramina	6223	RPS19	OMIM:105650
HP:0002697	Parietal foramina	2132	EXT2	ORPHA:52022
HP:0002697	Parietal foramina	51317	PHF21A	ORPHA:52022
HP:0002696	Abnormal parietal bone morphology	5727	PTCH1	OMIM:610828
HP:0002696	Abnormal parietal bone morphology	5727	PTCH1	OMIM:109400
HP:0002696	Abnormal parietal bone morphology	2261	FGFR3	ORPHA:15
HP:0002696	Abnormal parietal bone morphology	3845	KRAS	OMIM:600268
HP:0002696	Abnormal parietal bone morphology	860	RUNX2	OMIM:119600
HP:0002696	Abnormal parietal bone morphology	5781	PTPN11	OMIM:151100
HP:0002696	Abnormal parietal bone morphology	9526	MPDU1	OMIM:609180
HP:0002696	Abnormal parietal bone morphology	9526	MPDU1	ORPHA:79323
HP:0002696	Abnormal parietal bone morphology	11128	POLR3A	OMIM:264090
HP:0002696	Abnormal parietal bone morphology	9896	FIG4	ORPHA:3472
HP:0002696	Abnormal parietal bone morphology	55697	VAC14	ORPHA:3472
HP:0002696	Abnormal parietal bone morphology	84992	PIGY	ORPHA:247262
HP:0002696	Abnormal parietal bone morphology	84720	PIGO	ORPHA:247262
HP:0002696	Abnormal parietal bone morphology	93210	PGAP3	ORPHA:247262
HP:0002696	Abnormal parietal bone morphology	284098	PIGW	ORPHA:247262
HP:0002696	Abnormal parietal bone morphology	27315	PGAP2	ORPHA:247262
HP:0002696	Abnormal parietal bone morphology	55650	PIGV	ORPHA:247262
HP:0002696	Abnormal parietal bone morphology	9487	PIGL	ORPHA:247262
HP:0002696	Abnormal parietal bone morphology	7291	TWIST1	ORPHA:794
HP:0002696	Abnormal parietal bone morphology	7291	TWIST1	OMIM:101400
HP:0002696	Abnormal parietal bone morphology	2263	FGFR2	ORPHA:794
HP:0002696	Abnormal parietal bone morphology	2263	FGFR2	OMIM:101400
HP:0002696	Abnormal parietal bone morphology	267010	RNU12	OMIM:603116
HP:0002696	Abnormal parietal bone morphology	267010	RNU12	ORPHA:85199
HP:0002696	Abnormal parietal bone morphology	8493	PPM1D	OMIM:617450
HP:0002696	Abnormal parietal bone morphology	4488	MSX2	ORPHA:60015
HP:0002696	Abnormal parietal bone morphology	4488	MSX2	OMIM:168550
HP:0002696	Abnormal parietal bone morphology	4488	MSX2	OMIM:168500
HP:0002696	Abnormal parietal bone morphology	60529	ALX4	ORPHA:60015
HP:0002696	Abnormal parietal bone morphology	60529	ALX4	OMIM:613451
HP:0002696	Abnormal parietal bone morphology	60529	ALX4	OMIM:609597
HP:0002696	Abnormal parietal bone morphology	60529	ALX4	ORPHA:52022
HP:0002696	Abnormal parietal bone morphology	2033	EP300	OMIM:180849
HP:0002696	Abnormal parietal bone morphology	1387	CREBBP	OMIM:180849
HP:0002696	Abnormal parietal bone morphology	7545	ZIC1	OMIM:616602
HP:0002696	Abnormal parietal bone morphology	57688	ZSWIM6	OMIM:603671
HP:0002696	Abnormal parietal bone morphology	6223	RPS19	OMIM:105650
HP:0002696	Abnormal parietal bone morphology	2132	EXT2	ORPHA:52022
HP:0002696	Abnormal parietal bone morphology	51317	PHF21A	ORPHA:52022
HP:0004437	Cranial hyperostosis	5290	PIK3CA	OMIM:612918
HP:0004437	Cranial hyperostosis	4125	MAN2B1	ORPHA:309282
HP:0004437	Cranial hyperostosis	50964	SOST	ORPHA:3416
HP:0004437	Cranial hyperostosis	4041	LRP5	ORPHA:3416
HP:0004437	Cranial hyperostosis	4982	TNFRSF11B	ORPHA:2801
HP:0004437	Cranial hyperostosis	8792	TNFRSF11A	ORPHA:2801
HP:0004437	Cranial hyperostosis	9791	PTDSS1	ORPHA:2658
HP:0004437	Cranial hyperostosis	56172	ANKH	OMIM:123000
HP:0004437	Cranial hyperostosis	57187	THOC2	ORPHA:457240
HP:0004437	Cranial hyperostosis	3425	IDUA	OMIM:607014
HP:0004437	Cranial hyperostosis	760	CA2	OMIM:259730
HP:0004437	Cranial hyperostosis	8600	TNFSF11	OMIM:259710
HP:0004437	Cranial hyperostosis	2697	GJA1	ORPHA:2710
HP:0004437	Cranial hyperostosis	207	AKT1	ORPHA:744
HP:0004437	Cranial hyperostosis	28962	OSTM1	OMIM:259720
HP:0004437	Cranial hyperostosis	7840	ALMS1	ORPHA:64
HP:0004437	Cranial hyperostosis	7840	ALMS1	OMIM:203800
HP:0004437	Cranial hyperostosis	2778	GNAS	ORPHA:79443
HP:0004437	Cranial hyperostosis	1277	COL1A1	ORPHA:1310
HP:0004437	Cranial hyperostosis	1277	COL1A1	OMIM:114000
HP:0004437	Cranial hyperostosis	5573	PRKAR1A	OMIM:101800
HP:0004437	Cranial hyperostosis	23516	SLC39A14	OMIM:144755
HP:0004437	Cranial hyperostosis	84701	COX4I2	OMIM:612714
HP:0004437	Cranial hyperostosis	3178	HNRNPA1	ORPHA:52430
HP:0004437	Cranial hyperostosis	7415	VCP	ORPHA:52430
HP:0004437	Cranial hyperostosis	3181	HNRNPA2B1	ORPHA:52430
HP:0004437	Cranial hyperostosis	4038	LRP4	ORPHA:3152
HP:0004437	Cranial hyperostosis	6197	RPS6KA3	ORPHA:192
HP:0004437	Cranial hyperostosis	4854	NOTCH3	ORPHA:2789
HP:0004437	Cranial hyperostosis	10312	TCIRG1	ORPHA:1782
HP:0004437	Cranial hyperostosis	55315	SLC29A3	ORPHA:1782
HP:0004437	Cranial hyperostosis	2260	FGFR1	ORPHA:2396
HP:0004437	Cranial hyperostosis	3845	KRAS	ORPHA:2396
HP:0004437	Cranial hyperostosis	2316	FLNA	ORPHA:2484
HP:0004437	Cranial hyperostosis	6916	TBXAS1	ORPHA:1802
HP:0004437	Cranial hyperostosis	121340	SP7	ORPHA:1513
HP:0004437	Cranial hyperostosis	4089	SMAD4	ORPHA:2588
HP:0004437	Cranial hyperostosis	2068	ERCC2	ORPHA:910
HP:0004437	Cranial hyperostosis	7507	XPA	ORPHA:910
HP:0004437	Cranial hyperostosis	2071	ERCC3	ORPHA:910
HP:0004437	Cranial hyperostosis	7508	XPC	ORPHA:910
HP:0004437	Cranial hyperostosis	1643	DDB2	ORPHA:910
HP:0004437	Cranial hyperostosis	2072	ERCC4	ORPHA:910
HP:0004437	Cranial hyperostosis	2073	ERCC5	ORPHA:910
HP:0004437	Cranial hyperostosis	139285	AMER1	ORPHA:2780
HP:0002699	Abnormal foramen magnum morphology	3187	HNRNPH1	OMIM:620083
HP:0002699	Abnormal foramen magnum morphology	2261	FGFR3	OMIM:187601
HP:0002699	Abnormal foramen magnum morphology	2261	FGFR3	OMIM:187600
HP:0002699	Abnormal foramen magnum morphology	2261	FGFR3	OMIM:616482
HP:0002699	Abnormal foramen magnum morphology	2261	FGFR3	OMIM:100800
HP:0002699	Abnormal foramen magnum morphology	3636	INPPL1	OMIM:258480
HP:0002699	Abnormal foramen magnum morphology	89970	RSPRY1	ORPHA:457395
HP:0002699	Abnormal foramen magnum morphology	55699	IARS2	OMIM:616007
HP:0002699	Abnormal foramen magnum morphology	56172	ANKH	OMIM:123000
HP:0002699	Abnormal foramen magnum morphology	2006	ELN	ORPHA:90348
HP:0002699	Abnormal foramen magnum morphology	10516	FBLN5	ORPHA:90348
HP:0002699	Abnormal foramen magnum morphology	5832	ALDH18A1	ORPHA:90348
HP:0002699	Abnormal foramen magnum morphology	5832	ALDH18A1	OMIM:616603
HP:0002699	Abnormal foramen magnum morphology	1108	CHD4	OMIM:617159
HP:0002699	Abnormal foramen magnum morphology	3930	LBR	OMIM:618019
HP:0002699	Abnormal foramen magnum morphology	2317	FLNB	OMIM:272460
HP:0002699	Abnormal foramen magnum morphology	2033	EP300	OMIM:180849
HP:0002699	Abnormal foramen magnum morphology	1387	CREBBP	OMIM:180849
HP:0002699	Abnormal foramen magnum morphology	29899	GPSM2	OMIM:604213
HP:0002699	Abnormal foramen magnum morphology	2316	FLNA	OMIM:305620
HP:0002699	Abnormal foramen magnum morphology	860	RUNX2	OMIM:119600
HP:0002699	Abnormal foramen magnum morphology	51715	RAB23	OMIM:201000
HP:0005900	Fifth metacarpal with ulnar notch	2200	FBN1	ORPHA:969
HP:0005900	Fifth metacarpal with ulnar notch	2200	FBN1	OMIM:102370
HP:0005900	Fifth metacarpal with ulnar notch	4054	LTBP3	ORPHA:969
HP:0002754	Osteomyelitis	22948	CCT5	OMIM:256840
HP:0002754	Osteomyelitis	22948	CCT5	ORPHA:139578
HP:0002754	Osteomyelitis	7879	RAB7A	OMIM:600882
HP:0002754	Osteomyelitis	3043	HBB	ORPHA:232
HP:0002754	Osteomyelitis	9663	LPIN2	OMIM:609628
HP:0002754	Osteomyelitis	9663	LPIN2	ORPHA:77297
HP:0002754	Osteomyelitis	3689	ITGB2	OMIM:116920
HP:0002754	Osteomyelitis	10312	TCIRG1	ORPHA:210110
HP:0002754	Osteomyelitis	10312	TCIRG1	OMIM:259700
HP:0002754	Osteomyelitis	1186	CLCN7	ORPHA:210110
HP:0002754	Osteomyelitis	1186	CLCN7	ORPHA:53
HP:0002754	Osteomyelitis	9842	PLEKHM1	ORPHA:210110
HP:0002754	Osteomyelitis	5993	RFX5	OMIM:620816
HP:0002754	Osteomyelitis	6711	SPTBN1	OMIM:619475
HP:0002754	Osteomyelitis	25923	ATL3	OMIM:615632
HP:0002754	Osteomyelitis	25923	ATL3	ORPHA:36386
HP:0002754	Osteomyelitis	4688	NCF2	OMIM:233710
HP:0002754	Osteomyelitis	5238	PGM3	ORPHA:443811
HP:0002754	Osteomyelitis	8517	IKBKG	OMIM:301081
HP:0002754	Osteomyelitis	4803	NGF	OMIM:608654
HP:0002754	Osteomyelitis	3106	HLA-B	ORPHA:29207
HP:0002754	Osteomyelitis	6340	SCNN1G	ORPHA:171876
HP:0002754	Osteomyelitis	6337	SCNN1A	ORPHA:171876
HP:0002754	Osteomyelitis	6338	SCNN1B	ORPHA:171876
HP:0002754	Osteomyelitis	3557	IL1RN	OMIM:612852
HP:0002754	Osteomyelitis	1786	DNMT1	OMIM:614116
HP:0002754	Osteomyelitis	134218	DNAJC21	ORPHA:811
HP:0002754	Osteomyelitis	79631	EFL1	ORPHA:811
HP:0002754	Osteomyelitis	51119	SBDS	ORPHA:811
HP:0002754	Osteomyelitis	51062	ATL1	OMIM:613708
HP:0002754	Osteomyelitis	51062	ATL1	ORPHA:36386
HP:0002754	Osteomyelitis	10558	SPTLC1	OMIM:162400
HP:0002754	Osteomyelitis	10558	SPTLC1	ORPHA:36386
HP:0002754	Osteomyelitis	695	BTK	ORPHA:47
HP:0002754	Osteomyelitis	84905	ZNF341	OMIM:618282
HP:0002754	Osteomyelitis	3554	IL1R1	OMIM:259680
HP:0002754	Osteomyelitis	5966	REL	OMIM:619652
HP:0002754	Osteomyelitis	6772	STAT1	OMIM:614162
HP:0002754	Osteomyelitis	28982	FLVCR1	ORPHA:88628
HP:0002754	Osteomyelitis	8218	CLTCL1	ORPHA:453510
HP:0002754	Osteomyelitis	6774	STAT3	ORPHA:2314
HP:0002754	Osteomyelitis	50943	FOXP3	ORPHA:37042
HP:0002754	Osteomyelitis	3459	IFNGR1	OMIM:615978
HP:0002754	Osteomyelitis	54463	RETREG1	OMIM:613115
HP:0002754	Osteomyelitis	2019	EN1	OMIM:619218
HP:0002754	Osteomyelitis	1535	CYBA	OMIM:233690
HP:0002754	Osteomyelitis	3248	HPGD	ORPHA:2796
HP:0002754	Osteomyelitis	6578	SLCO2A1	ORPHA:2796
HP:0002754	Osteomyelitis	29110	TBK1	OMIM:620880
HP:0002754	Osteomyelitis	6850	SYK	OMIM:619381
HP:0002754	Osteomyelitis	4914	NTRK1	ORPHA:642
HP:0002754	Osteomyelitis	4914	NTRK1	OMIM:256800
HP:0002754	Osteomyelitis	538	ATP7A	ORPHA:565
HP:0002754	Osteomyelitis	1536	CYBB	OMIM:306400
HP:0002754	Osteomyelitis	81704	DOCK8	OMIM:243700
HP:0002754	Osteomyelitis	2624	GATA2	OMIM:614172
HP:0002754	Osteomyelitis	205327	C2orf69	OMIM:619423
HP:0002754	Osteomyelitis	28985	MCTS1	OMIM:301115
HP:0002754	Osteomyelitis	5283	PIGH	OMIM:618010
HP:0002754	Osteomyelitis	9517	SPTLC2	OMIM:613640
HP:0002754	Osteomyelitis	9517	SPTLC2	ORPHA:36386
HP:0002754	Osteomyelitis	203859	ANO5	OMIM:166260
HP:0002754	Osteomyelitis	653361	NCF1	OMIM:233700
HP:0002754	Osteomyelitis	8600	TNFSF11	OMIM:259710
HP:0002754	Osteomyelitis	6929	TCF3	ORPHA:33110
HP:0002754	Osteomyelitis	7922	SLC39A7	ORPHA:33110
HP:0002754	Osteomyelitis	973	CD79A	ORPHA:33110
HP:0002754	Osteomyelitis	974	CD79B	ORPHA:33110
HP:0002754	Osteomyelitis	6688	SPI1	ORPHA:33110
HP:0002754	Osteomyelitis	3543	IGLL1	ORPHA:33110
HP:0002754	Osteomyelitis	3507	IGHM	ORPHA:33110
HP:0002754	Osteomyelitis	29760	BLNK	ORPHA:33110
HP:0002754	Osteomyelitis	5295	PIK3R1	ORPHA:33110
HP:0002754	Osteomyelitis	56262	LRRC8A	ORPHA:33110
HP:0002754	Osteomyelitis	4358	MPV17	OMIM:256810
HP:0002754	Osteomyelitis	4507	MTAP	OMIM:112250
HP:0002754	Osteomyelitis	3594	IL12RB1	ORPHA:319552
HP:0001482	Subcutaneous nodule	1499	CTNNB1	ORPHA:873
HP:0001482	Subcutaneous nodule	1499	CTNNB1	ORPHA:91414
HP:0001482	Subcutaneous nodule	324	APC	ORPHA:873
HP:0001482	Subcutaneous nodule	64840	PORCN	ORPHA:2092
HP:0001482	Subcutaneous nodule	3458	IFNG	OMIM:613254
HP:0001482	Subcutaneous nodule	7249	TSC2	OMIM:613254
HP:0001482	Subcutaneous nodule	4047	LSS	ORPHA:1366
HP:0001482	Subcutaneous nodule	83706	FERMT3	OMIM:612840
HP:0001482	Subcutaneous nodule	118429	ANTXR2	ORPHA:2176
HP:0001482	Subcutaneous nodule	118429	ANTXR2	OMIM:228600
HP:0001482	Subcutaneous nodule	118429	ANTXR2	ORPHA:2028
HP:0001482	Subcutaneous nodule	3643	INSR	ORPHA:2297
HP:0001482	Subcutaneous nodule	5728	PTEN	ORPHA:109
HP:0001482	Subcutaneous nodule	5728	PTEN	ORPHA:201
HP:0001482	Subcutaneous nodule	5728	PTEN	ORPHA:137608
HP:0001482	Subcutaneous nodule	6660	SOX5	ORPHA:626
HP:0001482	Subcutaneous nodule	238	ALK	ORPHA:626
HP:0001482	Subcutaneous nodule	238	ALK	ORPHA:635
HP:0001482	Subcutaneous nodule	9839	ZEB2	ORPHA:626
HP:0001482	Subcutaneous nodule	4893	NRAS	ORPHA:626
HP:0001482	Subcutaneous nodule	673	BRAF	ORPHA:626
HP:0001482	Subcutaneous nodule	673	BRAF	ORPHA:500
HP:0001482	Subcutaneous nodule	673	BRAF	ORPHA:840
HP:0001482	Subcutaneous nodule	5894	RAF1	ORPHA:626
HP:0001482	Subcutaneous nodule	5894	RAF1	ORPHA:500
HP:0001482	Subcutaneous nodule	1540	CYLD	ORPHA:867
HP:0001482	Subcutaneous nodule	1540	CYLD	ORPHA:211
HP:0001482	Subcutaneous nodule	4952	OCRL	OMIM:309000
HP:0001482	Subcutaneous nodule	5781	PTPN11	ORPHA:500
HP:0001482	Subcutaneous nodule	207	AKT1	ORPHA:744
HP:0001482	Subcutaneous nodule	207	AKT1	ORPHA:201
HP:0001482	Subcutaneous nodule	1019	CDK4	ORPHA:99971
HP:0001482	Subcutaneous nodule	4193	MDM2	ORPHA:99971
HP:0001482	Subcutaneous nodule	8091	HMGA2	ORPHA:99971
HP:0001482	Subcutaneous nodule	8091	HMGA2	ORPHA:94063
HP:0001482	Subcutaneous nodule	114803	MYSM1	ORPHA:508542
HP:0001482	Subcutaneous nodule	1294	COL7A1	ORPHA:89843
HP:0001482	Subcutaneous nodule	2263	FGFR2	ORPHA:1555
HP:0001482	Subcutaneous nodule	4982	TNFRSF11B	ORPHA:2801
HP:0001482	Subcutaneous nodule	8792	TNFRSF11A	ORPHA:2801
HP:0001482	Subcutaneous nodule	3832	KIF11	ORPHA:2526
HP:0001482	Subcutaneous nodule	7248	TSC1	OMIM:191100
HP:0001482	Subcutaneous nodule	6299	SALL1	ORPHA:857
HP:0001482	Subcutaneous nodule	51339	DACT1	ORPHA:857
HP:0001482	Subcutaneous nodule	2521	FUS	ORPHA:99967
HP:0001482	Subcutaneous nodule	1649	DDIT3	ORPHA:99967
HP:0001482	Subcutaneous nodule	1277	COL1A1	ORPHA:31112
HP:0001482	Subcutaneous nodule	5155	PDGFB	ORPHA:31112
HP:0001482	Subcutaneous nodule	23592	LEMD3	ORPHA:1879
HP:0001482	Subcutaneous nodule	23592	LEMD3	ORPHA:94063
HP:0001482	Subcutaneous nodule	2778	GNAS	ORPHA:2762
HP:0001482	Subcutaneous nodule	90	ACVR1	ORPHA:337
HP:0001482	Subcutaneous nodule	1893	ECM1	ORPHA:530
HP:0001482	Subcutaneous nodule	4854	NOTCH3	ORPHA:2591
HP:0001482	Subcutaneous nodule	5159	PDGFRB	ORPHA:2591
HP:0001482	Subcutaneous nodule	5745	PTH1R	ORPHA:296
HP:0001482	Subcutaneous nodule	3418	IDH2	ORPHA:296
HP:0001482	Subcutaneous nodule	3418	IDH2	ORPHA:163634
HP:0001482	Subcutaneous nodule	3417	IDH1	ORPHA:296
HP:0001482	Subcutaneous nodule	3417	IDH1	ORPHA:163634
HP:0001482	Subcutaneous nodule	348	APOE	ORPHA:158029
HP:0001482	Subcutaneous nodule	51371	POMP	OMIM:618048
HP:0001482	Subcutaneous nodule	2200	FBN1	ORPHA:2833
HP:0001482	Subcutaneous nodule	4668	NAGA	ORPHA:79280
HP:0001482	Subcutaneous nodule	2260	FGFR1	ORPHA:2396
HP:0001482	Subcutaneous nodule	3845	KRAS	ORPHA:2396
HP:0001482	Subcutaneous nodule	2717	GLA	ORPHA:324
HP:0001482	Subcutaneous nodule	4323	MMP14	OMIM:277950
HP:0001482	Subcutaneous nodule	4323	MMP14	ORPHA:371428
HP:0001482	Subcutaneous nodule	4313	MMP2	OMIM:259600
HP:0001482	Subcutaneous nodule	4313	MMP2	ORPHA:371428
HP:0001482	Subcutaneous nodule	10483	SEC23B	ORPHA:201
HP:0001482	Subcutaneous nodule	6390	SDHB	ORPHA:201
HP:0001482	Subcutaneous nodule	6392	SDHD	ORPHA:201
HP:0001482	Subcutaneous nodule	6391	SDHC	ORPHA:201
HP:0001482	Subcutaneous nodule	205717	USF3	ORPHA:201
HP:0001482	Subcutaneous nodule	5290	PIK3CA	ORPHA:201
HP:0001482	Subcutaneous nodule	100144748	KLLN	ORPHA:201
HP:0001482	Subcutaneous nodule	1281	COL3A1	ORPHA:286
HP:0001482	Subcutaneous nodule	567	B2M	OMIM:241600
HP:0001482	Subcutaneous nodule	427	ASAH1	OMIM:228000
HP:0001482	Subcutaneous nodule	7010	TEK	ORPHA:1059
HP:0001482	Subcutaneous nodule	2744	GLS	OMIM:618339
HP:0001482	Subcutaneous nodule	5167	ENPP1	ORPHA:758
HP:0001482	Subcutaneous nodule	368	ABCC6	ORPHA:758
HP:0001482	Subcutaneous nodule	56244	BTNL2	ORPHA:797
HP:0001482	Subcutaneous nodule	3123	HLA-DRB1	ORPHA:797
HP:0001482	Subcutaneous nodule	4613	MYCN	ORPHA:635
HP:0001482	Subcutaneous nodule	389421	LIN28B	ORPHA:635
HP:0001482	Subcutaneous nodule	4004	LMO1	ORPHA:635
HP:0001482	Subcutaneous nodule	57531	HACE1	ORPHA:635
HP:0001482	Subcutaneous nodule	8929	PHOX2B	ORPHA:635
HP:0001482	Subcutaneous nodule	149233	IL23R	ORPHA:117
HP:0001482	Subcutaneous nodule	6775	STAT4	ORPHA:117
HP:0001482	Subcutaneous nodule	3586	IL10	ORPHA:117
HP:0001482	Subcutaneous nodule	4210	MEFV	ORPHA:117
HP:0001482	Subcutaneous nodule	1230	CCR1	ORPHA:117
HP:0001482	Subcutaneous nodule	355	FAS	ORPHA:117
HP:0001482	Subcutaneous nodule	3592	IL12A	ORPHA:117
HP:0001482	Subcutaneous nodule	101928376	IL12A-AS1	ORPHA:117
HP:0001482	Subcutaneous nodule	3106	HLA-B	ORPHA:117
HP:0001482	Subcutaneous nodule	7099	TLR4	ORPHA:117
HP:0001482	Subcutaneous nodule	3459	IFNGR1	ORPHA:117
HP:0001482	Subcutaneous nodule	720	C4A	ORPHA:117
HP:0001482	Subcutaneous nodule	337867	UBAC2	ORPHA:117
HP:0001482	Subcutaneous nodule	51752	ERAP1	ORPHA:117
HP:0001482	Subcutaneous nodule	8302	KLRC4	ORPHA:117
HP:0001482	Subcutaneous nodule	55699	IARS2	ORPHA:436174
HP:0001482	Subcutaneous nodule	1289	COL5A1	ORPHA:287
HP:0001482	Subcutaneous nodule	1289	COL5A1	OMIM:130000
HP:0001482	Subcutaneous nodule	1290	COL5A2	ORPHA:287
HP:0001482	Subcutaneous nodule	1290	COL5A2	OMIM:130010
HP:0001839	Split foot	8626	TP63	OMIM:603543
HP:0001839	Split foot	8626	TP63	OMIM:605289
HP:0001839	Split foot	8626	TP63	OMIM:604292
HP:0001839	Split foot	8626	TP63	ORPHA:1896
HP:0001839	Split foot	8626	TP63	ORPHA:2440
HP:0001839	Split foot	8626	TP63	ORPHA:978
HP:0001839	Split foot	8626	TP63	OMIM:103285
HP:0001839	Split foot	64840	PORCN	OMIM:305600
HP:0001839	Split foot	64840	PORCN	ORPHA:2092
HP:0001839	Split foot	7480	WNT10B	OMIM:225300
HP:0001839	Split foot	7480	WNT10B	ORPHA:2440
HP:0001839	Split foot	10054	UBA2	OMIM:619959
HP:0001839	Split foot	2263	FGFR2	ORPHA:1540
HP:0001839	Split foot	1749	DLX5	OMIM:220600
HP:0001839	Split foot	1749	DLX5	ORPHA:2440
HP:0001839	Split foot	1749	DLX5	OMIM:183600
HP:0001839	Split foot	51776	MAP3K20	OMIM:616890
HP:0001839	Split foot	51776	MAP3K20	ORPHA:488232
HP:0001839	Split foot	1750	DLX6	ORPHA:2440
HP:0001839	Split foot	7979	SEM1	ORPHA:2440
HP:0001839	Split foot	8945	BTRC	ORPHA:2440
HP:0001839	Split foot	58513	EPS15L1	ORPHA:2440
HP:0001839	Split foot	6468	FBXW4	ORPHA:2440
HP:0001839	Split foot	2737	GLI3	ORPHA:93322
HP:0005905	Abnormal cervical curvature	1836	SLC26A2	ORPHA:56304
HP:0005905	Abnormal cervical curvature	1836	SLC26A2	OMIM:256050
HP:0005905	Abnormal cervical curvature	1836	SLC26A2	OMIM:222600
HP:0005905	Abnormal cervical curvature	1836	SLC26A2	ORPHA:93307
HP:0005905	Abnormal cervical curvature	1836	SLC26A2	ORPHA:628
HP:0005905	Abnormal cervical curvature	64412	GZF1	OMIM:617662
HP:0005905	Abnormal cervical curvature	113189	CHST14	ORPHA:2953
HP:0005905	Abnormal cervical curvature	29940	DSE	ORPHA:2953
HP:0005905	Abnormal cervical curvature	134701	RIPPLY2	OMIM:616566
HP:0005905	Abnormal cervical curvature	6662	SOX9	OMIM:114290
HP:0005905	Abnormal cervical curvature	3339	HSPG2	OMIM:255800
HP:0005905	Abnormal cervical curvature	415	ARSL	ORPHA:79345
HP:0005905	Abnormal cervical curvature	2317	FLNB	ORPHA:56305
HP:0005905	Abnormal cervical curvature	1134	CHRNA1	OMIM:253290
HP:0005905	Abnormal cervical curvature	1146	CHRNG	OMIM:253290
HP:0005905	Abnormal cervical curvature	1144	CHRND	OMIM:253290
HP:0005906	Delayed pneumatization of the mastoid process	1513	CTSK	ORPHA:763
HP:0005906	Delayed pneumatization of the mastoid process	56172	ANKH	OMIM:123000
HP:0001783	Broad metatarsal	5745	PTH1R	OMIM:600002
HP:0001783	Broad metatarsal	2200	FBN1	OMIM:608328
HP:0001783	Broad metatarsal	4882	NPR2	OMIM:602875
HP:0001783	Broad metatarsal	83452	RAB33B	OMIM:615222
HP:0001783	Broad metatarsal	5144	PDE4D	ORPHA:439822
HP:0001783	Broad metatarsal	2260	FGFR1	OMIM:166250
HP:0001783	Broad metatarsal	2260	FGFR1	OMIM:123150
HP:0001783	Broad metatarsal	2263	FGFR2	ORPHA:1540
HP:0001783	Broad metatarsal	2263	FGFR2	OMIM:123150
HP:0001783	Broad metatarsal	4313	MMP2	OMIM:259600
HP:0001783	Broad metatarsal	81794	ADAMTS10	OMIM:277600
HP:0001783	Broad metatarsal	79989	IFT56	OMIM:619534
HP:0001783	Broad metatarsal	4750	NEK1	ORPHA:2751
HP:0001783	Broad metatarsal	124583	CANT1	OMIM:251450
HP:0001783	Broad metatarsal	10060	ABCC9	OMIM:239850
HP:0006487	Bowing of the long bones	1497	CTNS	OMIM:219800
HP:0006487	Bowing of the long bones	875	CBS	ORPHA:394
HP:0006487	Bowing of the long bones	51256	TBC1D7	OMIM:248000
HP:0006487	Bowing of the long bones	2972	BRF1	OMIM:616202
HP:0006487	Bowing of the long bones	652	BMP4	ORPHA:828
HP:0006487	Bowing of the long bones	7360	UGP2	OMIM:618744
HP:0006487	Bowing of the long bones	10992	SF3B2	OMIM:164210
HP:0006487	Bowing of the long bones	4125	MAN2B1	ORPHA:309282
HP:0006487	Bowing of the long bones	58	ACTA1	ORPHA:171436
HP:0006487	Bowing of the long bones	7169	TPM2	ORPHA:171436
HP:0006487	Bowing of the long bones	4703	NEB	ORPHA:171436
HP:0006487	Bowing of the long bones	10324	KLHL41	ORPHA:171436
HP:0006487	Bowing of the long bones	56203	LMOD3	ORPHA:171436
HP:0006487	Bowing of the long bones	1073	CFL2	ORPHA:171436
HP:0006487	Bowing of the long bones	1278	COL1A2	ORPHA:230851
HP:0006487	Bowing of the long bones	3021	H3-3B	OMIM:619721
HP:0006487	Bowing of the long bones	55790	CSGALNACT1	OMIM:618870
HP:0006487	Bowing of the long bones	176	ACAN	OMIM:608361
HP:0006487	Bowing of the long bones	54681	P4HTM	ORPHA:436141
HP:0006487	Bowing of the long bones	54681	P4HTM	OMIM:618493
HP:0006487	Bowing of the long bones	84572	GNPTG	OMIM:252605
HP:0006487	Bowing of the long bones	3418	IDH2	ORPHA:296
HP:0006487	Bowing of the long bones	3417	IDH1	ORPHA:296
HP:0006487	Bowing of the long bones	64324	NSD1	OMIM:117550
HP:0006487	Bowing of the long bones	7040	TGFB1	OMIM:131300
HP:0006487	Bowing of the long bones	7040	TGFB1	ORPHA:1328
HP:0006487	Bowing of the long bones	9469	CHST3	OMIM:143095
HP:0006487	Bowing of the long bones	9469	CHST3	ORPHA:263463
HP:0006487	Bowing of the long bones	9469	CHST3	OMIM:245600
HP:0006487	Bowing of the long bones	54880	BCOR	ORPHA:2712
HP:0006487	Bowing of the long bones	815	CAMK2A	OMIM:617798
HP:0006487	Bowing of the long bones	10381	TUBB3	ORPHA:300570
HP:0006487	Bowing of the long bones	55699	IARS2	ORPHA:436174
HP:0006487	Bowing of the long bones	55699	IARS2	OMIM:616007
HP:0006487	Bowing of the long bones	83480	PUS3	ORPHA:488627
HP:0006487	Bowing of the long bones	157680	VPS13B	OMIM:216550
HP:0006487	Bowing of the long bones	157680	VPS13B	ORPHA:193
HP:0006487	Bowing of the long bones	5566	PRKACA	ORPHA:289
HP:0006487	Bowing of the long bones	5566	PRKACA	OMIM:619142
HP:0006487	Bowing of the long bones	5567	PRKACB	ORPHA:289
HP:0006487	Bowing of the long bones	5567	PRKACB	OMIM:619143
HP:0006487	Bowing of the long bones	2735	GLI1	ORPHA:289
HP:0006487	Bowing of the long bones	2735	GLI1	OMIM:618123
HP:0006487	Bowing of the long bones	2121	EVC	ORPHA:289
HP:0006487	Bowing of the long bones	2121	EVC	OMIM:225500
HP:0006487	Bowing of the long bones	51626	DYNC2LI1	ORPHA:289
HP:0006487	Bowing of the long bones	132884	EVC2	ORPHA:289
HP:0006487	Bowing of the long bones	132884	EVC2	OMIM:225500
HP:0006487	Bowing of the long bones	9839	ZEB2	ORPHA:261552
HP:0006487	Bowing of the long bones	9839	ZEB2	ORPHA:261537
HP:0006487	Bowing of the long bones	1311	COMP	OMIM:132400
HP:0006487	Bowing of the long bones	1311	COMP	OMIM:177170
HP:0006487	Bowing of the long bones	1311	COMP	ORPHA:93308
HP:0006487	Bowing of the long bones	1311	COMP	ORPHA:750
HP:0006487	Bowing of the long bones	2720	GLB1	OMIM:253010
HP:0006487	Bowing of the long bones	3425	IDUA	OMIM:607016
HP:0006487	Bowing of the long bones	374654	KIF7	OMIM:607131
HP:0006487	Bowing of the long bones	374654	KIF7	ORPHA:166024
HP:0006487	Bowing of the long bones	5376	PMP22	ORPHA:3115
HP:0006487	Bowing of the long bones	4359	MPZ	ORPHA:3115
HP:0006487	Bowing of the long bones	1588	CYP19A1	ORPHA:91
HP:0006487	Bowing of the long bones	9653	HS2ST1	OMIM:619194
HP:0006487	Bowing of the long bones	6804	STX1A	ORPHA:904
HP:0006487	Bowing of the long bones	7461	CLIP2	ORPHA:904
HP:0006487	Bowing of the long bones	84277	DNAJC30	ORPHA:904
HP:0006487	Bowing of the long bones	8468	FKBP6	ORPHA:904
HP:0006487	Bowing of the long bones	5982	RFC2	ORPHA:904
HP:0006487	Bowing of the long bones	2969	GTF2I	ORPHA:904
HP:0006487	Bowing of the long bones	3984	LIMK1	ORPHA:904
HP:0006487	Bowing of the long bones	9569	GTF2IRD1	ORPHA:904
HP:0006487	Bowing of the long bones	155382	VPS37D	ORPHA:904
HP:0006487	Bowing of the long bones	155368	METTL27	ORPHA:904
HP:0006487	Bowing of the long bones	114049	BUD23	ORPHA:904
HP:0006487	Bowing of the long bones	7458	EIF4H	ORPHA:904
HP:0006487	Bowing of the long bones	84163	GTF2IRD2	ORPHA:904
HP:0006487	Bowing of the long bones	26608	TBL2	ORPHA:904
HP:0006487	Bowing of the long bones	653361	NCF1	ORPHA:904
HP:0006487	Bowing of the long bones	135886	TMEM270	ORPHA:904
HP:0006487	Bowing of the long bones	9031	BAZ1B	ORPHA:904
HP:0006487	Bowing of the long bones	2006	ELN	ORPHA:904
HP:0006487	Bowing of the long bones	5593	PRKG2	OMIM:619636
HP:0006487	Bowing of the long bones	4952	OCRL	OMIM:309000
HP:0006487	Bowing of the long bones	4952	OCRL	ORPHA:534
HP:0006487	Bowing of the long bones	55027	HEATR3	OMIM:620072
HP:0006487	Bowing of the long bones	26137	ZBTB20	OMIM:259050
HP:0006487	Bowing of the long bones	54928	BPNT2	OMIM:614078
HP:0006487	Bowing of the long bones	8838	CCN6	ORPHA:1159
HP:0006487	Bowing of the long bones	3835	KIF22	OMIM:603546
HP:0006487	Bowing of the long bones	3835	KIF22	ORPHA:93360
HP:0006487	Bowing of the long bones	7030	TFE3	OMIM:301066
HP:0006487	Bowing of the long bones	23162	MAPK8IP3	OMIM:618443
HP:0006487	Bowing of the long bones	9394	HS6ST1	OMIM:614880
HP:0006487	Bowing of the long bones	23483	TGDS	OMIM:616145
HP:0006487	Bowing of the long bones	546	ATRX	OMIM:309580
HP:0006487	Bowing of the long bones	5167	ENPP1	OMIM:613312
HP:0006487	Bowing of the long bones	7994	KAT6A	OMIM:616268
HP:0006487	Bowing of the long bones	1297	COL9A1	ORPHA:250984
HP:0006487	Bowing of the long bones	1297	COL9A1	ORPHA:166002
HP:0006487	Bowing of the long bones	1297	COL9A1	OMIM:614134
HP:0006487	Bowing of the long bones	1298	COL9A2	ORPHA:250984
HP:0006487	Bowing of the long bones	1298	COL9A2	ORPHA:166002
HP:0006487	Bowing of the long bones	1299	COL9A3	ORPHA:250984
HP:0006487	Bowing of the long bones	1299	COL9A3	ORPHA:166002
HP:0006487	Bowing of the long bones	10664	CTCF	OMIM:615502
HP:0006487	Bowing of the long bones	55081	IFT57	OMIM:617927
HP:0006487	Bowing of the long bones	865	CBFB	OMIM:620099
HP:0006487	Bowing of the long bones	54808	DYM	ORPHA:239
HP:0006487	Bowing of the long bones	54808	DYM	OMIM:607326
HP:0006487	Bowing of the long bones	54808	DYM	OMIM:223800
HP:0006487	Bowing of the long bones	9361	LONP1	OMIM:600373
HP:0006487	Bowing of the long bones	10466	COG5	ORPHA:263487
HP:0006487	Bowing of the long bones	579	NKX3-2	OMIM:613330
HP:0006487	Bowing of the long bones	26160	IFT172	OMIM:615630
HP:0006487	Bowing of the long bones	2335	FN1	ORPHA:93315
HP:0006487	Bowing of the long bones	23394	ADNP	OMIM:615873
HP:0006487	Bowing of the long bones	79903	NAA60	OMIM:620786
HP:0006487	Bowing of the long bones	100033413	SNORD116-1	OMIM:176270
HP:0006487	Bowing of the long bones	8924	HERC2	OMIM:176270
HP:0006487	Bowing of the long bones	23742	NPAP1	OMIM:176270
HP:0006487	Bowing of the long bones	338433	SNORD115-1	OMIM:176270
HP:0006487	Bowing of the long bones	54551	MAGEL2	OMIM:176270
HP:0006487	Bowing of the long bones	7681	MKRN3	OMIM:176270
HP:0006487	Bowing of the long bones	145624	PWAR1	OMIM:176270
HP:0006487	Bowing of the long bones	3653	IPW	OMIM:176270
HP:0006487	Bowing of the long bones	791114	PWRN1	OMIM:176270
HP:0006487	Bowing of the long bones	411	ARSB	OMIM:253200
HP:0006487	Bowing of the long bones	91179	SCARF2	OMIM:600920
HP:0006487	Bowing of the long bones	8882	ZPR1	OMIM:619321
HP:0006487	Bowing of the long bones	137682	NDUFAF6	OMIM:618913
HP:0006487	Bowing of the long bones	55784	MCTP2	ORPHA:1596
HP:0006487	Bowing of the long bones	64135	IFIH1	OMIM:182250
HP:0006487	Bowing of the long bones	153642	ARSK	OMIM:619698
HP:0006487	Bowing of the long bones	4998	ORC1	OMIM:224690
HP:0006487	Bowing of the long bones	84068	SLC10A7	OMIM:618363
HP:0006487	Bowing of the long bones	5604	MAP2K1	ORPHA:1340
HP:0006487	Bowing of the long bones	5605	MAP2K2	ORPHA:1340
HP:0006487	Bowing of the long bones	3845	KRAS	ORPHA:1340
HP:0006487	Bowing of the long bones	673	BRAF	ORPHA:1340
HP:0006487	Bowing of the long bones	11145	PLAAT3	OMIM:620683
HP:0006487	Bowing of the long bones	23111	SPART	ORPHA:101000
HP:0006487	Bowing of the long bones	1301	COL11A1	ORPHA:560
HP:0006487	Bowing of the long bones	9451	EIF2AK3	OMIM:226980
HP:0006487	Bowing of the long bones	860	RUNX2	ORPHA:1452
HP:0006487	Bowing of the long bones	3930	LBR	OMIM:618019
HP:0006487	Bowing of the long bones	51715	RAB23	ORPHA:65759
HP:0006487	Bowing of the long bones	51715	RAB23	OMIM:201000
HP:0006487	Bowing of the long bones	1954	MEGF8	ORPHA:65759
HP:0006487	Bowing of the long bones	6424	SFRP4	OMIM:265900
HP:0006487	Bowing of the long bones	10526	IPO8	OMIM:619472
HP:0006487	Bowing of the long bones	6711	SPTBN1	OMIM:619475
HP:0006487	Bowing of the long bones	2588	GALNS	OMIM:253000
HP:0006487	Bowing of the long bones	80152	CENPT	OMIM:618702
HP:0006487	Bowing of the long bones	4796	TONSL	ORPHA:93357
HP:0006487	Bowing of the long bones	4796	TONSL	OMIM:271510
HP:0006487	Bowing of the long bones	5184	PEPD	ORPHA:742
HP:0006487	Bowing of the long bones	5885	RAD21	ORPHA:502
HP:0006487	Bowing of the long bones	7227	TRPS1	ORPHA:502
HP:0006487	Bowing of the long bones	374879	ZNF699	OMIM:619488
HP:0006487	Bowing of the long bones	10651	MTX2	OMIM:619127
HP:0006487	Bowing of the long bones	89970	RSPRY1	ORPHA:457395
HP:0006487	Bowing of the long bones	2990	GUSB	OMIM:253220
HP:0006487	Bowing of the long bones	8139	GAN	ORPHA:643
HP:0006487	Bowing of the long bones	26229	B3GAT3	OMIM:245600
HP:0006487	Bowing of the long bones	83452	RAB33B	OMIM:615222
HP:0006487	Bowing of the long bones	25871	NEPRO	OMIM:618853
HP:0006487	Bowing of the long bones	11128	POLR3A	OMIM:264090
HP:0006487	Bowing of the long bones	79631	EFL1	OMIM:617941
HP:0006487	Bowing of the long bones	124583	CANT1	OMIM:251450
HP:0006487	Bowing of the long bones	124583	CANT1	OMIM:617719
HP:0006487	Bowing of the long bones	284403	WDR62	OMIM:604317
HP:0006487	Bowing of the long bones	3549	IHH	ORPHA:63446
HP:0006487	Bowing of the long bones	3549	IHH	OMIM:607778
HP:0006487	Bowing of the long bones	1758	DMP1	ORPHA:289176
HP:0006487	Bowing of the long bones	4052	LTBP1	OMIM:619451
HP:0006487	Bowing of the long bones	6137	RPL13	OMIM:618728
HP:0006487	Bowing of the long bones	64131	XYLT1	OMIM:615777
HP:0006487	Bowing of the long bones	9675	TTI1	OMIM:620445
HP:0006487	Bowing of the long bones	9939	RBM8A	ORPHA:3320
HP:0006487	Bowing of the long bones	9939	RBM8A	OMIM:274000
HP:0006487	Bowing of the long bones	3248	HPGD	ORPHA:2796
HP:0006487	Bowing of the long bones	6578	SLCO2A1	ORPHA:2796
HP:0006487	Bowing of the long bones	633	BGN	OMIM:300106
HP:0006487	Bowing of the long bones	5442	POLRMT	OMIM:619743
HP:0006487	Bowing of the long bones	23594	ORC6	OMIM:613803
HP:0006487	Bowing of the long bones	64682	ANAPC1	ORPHA:221008
HP:0006487	Bowing of the long bones	1576	CYP3A4	OMIM:619073
HP:0006487	Bowing of the long bones	4921	DDR2	OMIM:271665
HP:0006487	Bowing of the long bones	8074	FGF23	ORPHA:89937
HP:0006487	Bowing of the long bones	1184	CLCN5	OMIM:300554
HP:0006487	Bowing of the long bones	1184	CLCN5	OMIM:300009
HP:0006487	Bowing of the long bones	142680	SLC34A3	OMIM:241530
HP:0006487	Bowing of the long bones	142680	SLC34A3	ORPHA:157215
HP:0006487	Bowing of the long bones	55325	UFSP2	OMIM:617974
HP:0006487	Bowing of the long bones	9060	PAPSS2	OMIM:612847
HP:0006487	Bowing of the long bones	65992	DDRGK1	ORPHA:93352
HP:0006487	Bowing of the long bones	4148	MATN3	OMIM:608728
HP:0006487	Bowing of the long bones	4148	MATN3	ORPHA:156728
HP:0006487	Bowing of the long bones	51360	MBTPS2	OMIM:301014
HP:0006487	Bowing of the long bones	249	ALPL	OMIM:241500
HP:0006487	Bowing of the long bones	249	ALPL	OMIM:241510
HP:0006487	Bowing of the long bones	8318	CDC45	OMIM:617063
HP:0006487	Bowing of the long bones	5176	SERPINF1	OMIM:613982
HP:0006487	Bowing of the long bones	9158	FIBP	OMIM:617107
HP:0006487	Bowing of the long bones	23187	PHLDB1	OMIM:620639
HP:0006487	Bowing of the long bones	10686	CLDN16	OMIM:248250
HP:0006487	Bowing of the long bones	120227	CYP2R1	OMIM:600081
HP:0006487	Bowing of the long bones	1962	EHHADH	OMIM:615605
HP:0006487	Bowing of the long bones	1300	COL10A1	ORPHA:174
HP:0006487	Bowing of the long bones	1277	COL1A1	OMIM:114000
HP:0006487	Bowing of the long bones	6569	SLC34A1	ORPHA:157215
HP:0006487	Bowing of the long bones	11014	KDELR2	OMIM:619131
HP:0006487	Bowing of the long bones	2263	FGFR2	ORPHA:313855
HP:0006487	Bowing of the long bones	372	ARCN1	OMIM:617164
HP:0006487	Bowing of the long bones	1594	CYP27B1	OMIM:264700
HP:0006487	Bowing of the long bones	4507	MTAP	OMIM:112250
HP:0006487	Bowing of the long bones	7421	VDR	OMIM:277440
HP:0006487	Bowing of the long bones	4763	NF1	ORPHA:97685
HP:0006487	Bowing of the long bones	54	ACP5	ORPHA:1855
HP:0006487	Bowing of the long bones	79659	DYNC2H1	OMIM:613091
HP:0006487	Bowing of the long bones	55503	TRPV6	OMIM:618188
HP:0006487	Bowing of the long bones	91754	NEK9	OMIM:617022
HP:0006487	Bowing of the long bones	3911	LAMA5	OMIM:620076
HP:0006487	Bowing of the long bones	64175	P3H1	OMIM:610915
HP:0006487	Bowing of the long bones	25885	POLR1A	OMIM:616462
HP:0006487	Bowing of the long bones	727857	BHLHA9	ORPHA:3329
HP:0006487	Bowing of the long bones	284086	NEK8	OMIM:615415
HP:0006487	Bowing of the long bones	92344	GORAB	OMIM:231070
HP:0006487	Bowing of the long bones	166929	SGMS2	OMIM:126550
HP:0006487	Bowing of the long bones	55151	TMEM38B	OMIM:615066
HP:0006487	Bowing of the long bones	649	BMP1	OMIM:614856
HP:0006487	Bowing of the long bones	55112	DYNC2I1	OMIM:615503
HP:0006487	Bowing of the long bones	65250	CPLANE1	OMIM:277170
HP:0006487	Bowing of the long bones	23314	SATB2	ORPHA:251028
HP:0006487	Bowing of the long bones	5159	PDGFRB	OMIM:601812
HP:0006487	Bowing of the long bones	22858	CILK1	OMIM:612651
HP:0006487	Bowing of the long bones	4041	LRP5	OMIM:259770
HP:0006487	Bowing of the long bones	388015	RTL1	ORPHA:96334
HP:0006487	Bowing of the long bones	8788	DLK1	ORPHA:96334
HP:0006487	Bowing of the long bones	55384	MEG3	ORPHA:96334
HP:0006487	Bowing of the long bones	8218	CLTCL1	ORPHA:453510
HP:0006487	Bowing of the long bones	2317	FLNB	OMIM:108721
HP:0006487	Bowing of the long bones	2317	FLNB	OMIM:108720
HP:0006487	Bowing of the long bones	1302	COL11A2	ORPHA:1427
HP:0006487	Bowing of the long bones	5116	PCNT	OMIM:210720
HP:0006487	Bowing of the long bones	26040	SETBP1	OMIM:269150
HP:0006487	Bowing of the long bones	26040	SETBP1	ORPHA:798
HP:0006487	Bowing of the long bones	2737	GLI3	ORPHA:672
HP:0006487	Bowing of the long bones	4920	ROR2	OMIM:268310
HP:0006487	Bowing of the long bones	6910	TBX5	OMIM:142900
HP:0006487	Bowing of the long bones	567	B2M	OMIM:241600
HP:0006487	Bowing of the long bones	112752	IFT43	OMIM:617866
HP:0006487	Bowing of the long bones	3207	HOXA11	OMIM:605432
HP:0006487	Bowing of the long bones	57020	VPS35L	OMIM:619135
HP:0006487	Bowing of the long bones	54101	RIPK4	OMIM:263650
HP:0006487	Bowing of the long bones	6678	SPARC	OMIM:616507
HP:0006487	Bowing of the long bones	9851	KIAA0753	OMIM:619479
HP:0006487	Bowing of the long bones	340419	RSPO2	OMIM:618022
HP:0006487	Bowing of the long bones	6885	MAP3K7	ORPHA:1826
HP:0006487	Bowing of the long bones	5573	PRKAR1A	ORPHA:950
HP:0006487	Bowing of the long bones	5144	PDE4D	ORPHA:950
HP:0006487	Bowing of the long bones	2261	FGFR3	OMIM:187600
HP:0006487	Bowing of the long bones	2261	FGFR3	ORPHA:429
HP:0006487	Bowing of the long bones	2261	FGFR3	ORPHA:1860
HP:0006487	Bowing of the long bones	79879	CCDC134	OMIM:619795
HP:0006487	Bowing of the long bones	10491	CRTAP	ORPHA:2050
HP:0006487	Bowing of the long bones	9871	SEC24D	ORPHA:2050
HP:0006487	Bowing of the long bones	5034	P4HB	ORPHA:2050
HP:0006487	Bowing of the long bones	100151683	RNU4ATAC	OMIM:210710
HP:0006487	Bowing of the long bones	6916	TBXAS1	ORPHA:1802
HP:0006487	Bowing of the long bones	10312	TCIRG1	ORPHA:667
HP:0006487	Bowing of the long bones	1186	CLCN7	ORPHA:667
HP:0006487	Bowing of the long bones	29887	SNX10	ORPHA:667
HP:0006487	Bowing of the long bones	8600	TNFSF11	ORPHA:667
HP:0006487	Bowing of the long bones	5447	POR	ORPHA:95699
HP:0006487	Bowing of the long bones	5781	PTPN11	OMIM:156250
HP:0006487	Bowing of the long bones	6662	SOX9	ORPHA:140
HP:0006487	Bowing of the long bones	6662	SOX9	OMIM:114290
HP:0006487	Bowing of the long bones	613	BCR	ORPHA:261330
HP:0006487	Bowing of the long bones	1399	CRKL	ORPHA:261330
HP:0006487	Bowing of the long bones	5594	MAPK1	ORPHA:261330
HP:0006487	Bowing of the long bones	8792	TNFRSF11A	OMIM:174810
HP:0006487	Bowing of the long bones	8792	TNFRSF11A	OMIM:602080
HP:0006487	Bowing of the long bones	8792	TNFRSF11A	ORPHA:2801
HP:0006487	Bowing of the long bones	23322	RPGRIP1L	OMIM:611561
HP:0006487	Bowing of the long bones	23322	RPGRIP1L	ORPHA:564
HP:0006487	Bowing of the long bones	2201	FBN2	OMIM:121050
HP:0006487	Bowing of the long bones	30008	EFEMP2	OMIM:614437
HP:0006487	Bowing of the long bones	51259	TMEM216	OMIM:603194
HP:0006487	Bowing of the long bones	51259	TMEM216	ORPHA:564
HP:0006487	Bowing of the long bones	56975	FAM20C	OMIM:259775
HP:0006487	Bowing of the long bones	2316	FLNA	OMIM:305620
HP:0006487	Bowing of the long bones	2316	FLNA	ORPHA:90650
HP:0006487	Bowing of the long bones	2316	FLNA	ORPHA:90652
HP:0006487	Bowing of the long bones	2316	FLNA	ORPHA:2484
HP:0006487	Bowing of the long bones	2316	FLNA	OMIM:304120
HP:0006487	Bowing of the long bones	6023	RMRP	ORPHA:175
HP:0006487	Bowing of the long bones	9401	RECQL4	ORPHA:1225
HP:0006487	Bowing of the long bones	55603	TENT5A	OMIM:617952
HP:0006487	Bowing of the long bones	5831	PYCR1	OMIM:612940
HP:0006487	Bowing of the long bones	90993	CREB3L1	OMIM:616229
HP:0006487	Bowing of the long bones	64093	SMOC1	ORPHA:1106
HP:0006487	Bowing of the long bones	2131	EXT1	ORPHA:321
HP:0006487	Bowing of the long bones	2132	EXT2	ORPHA:321
HP:0006487	Bowing of the long bones	4982	TNFRSF11B	OMIM:239000
HP:0006487	Bowing of the long bones	4982	TNFRSF11B	ORPHA:2801
HP:0006487	Bowing of the long bones	538	ATP7A	ORPHA:565
HP:0006487	Bowing of the long bones	84314	TMEM107	ORPHA:564
HP:0006487	Bowing of the long bones	26123	TCTN3	ORPHA:564
HP:0006487	Bowing of the long bones	26123	TCTN3	OMIM:614815
HP:0006487	Bowing of the long bones	79867	TCTN2	ORPHA:564
HP:0006487	Bowing of the long bones	80776	B9D2	ORPHA:564
HP:0006487	Bowing of the long bones	79600	TCTN1	ORPHA:564
HP:0006487	Bowing of the long bones	57096	RPGRIP1	ORPHA:564
HP:0006487	Bowing of the long bones	79848	CSPP1	ORPHA:564
HP:0006487	Bowing of the long bones	80184	CEP290	ORPHA:564
HP:0006487	Bowing of the long bones	80184	CEP290	OMIM:611134
HP:0006487	Bowing of the long bones	57545	CC2D2A	ORPHA:564
HP:0006487	Bowing of the long bones	79583	TMEM231	ORPHA:564
HP:0006487	Bowing of the long bones	91147	TMEM67	ORPHA:564
HP:0006487	Bowing of the long bones	79770	TXNDC15	ORPHA:564
HP:0006487	Bowing of the long bones	79770	TXNDC15	OMIM:619879
HP:0006487	Bowing of the long bones	27077	B9D1	ORPHA:564
HP:0006487	Bowing of the long bones	54903	MKS1	ORPHA:564
HP:0006487	Bowing of the long bones	54903	MKS1	OMIM:249000
HP:0006487	Bowing of the long bones	65062	TMEM237	ORPHA:564
HP:0006487	Bowing of the long bones	4784	NFIX	ORPHA:561
HP:0006487	Bowing of the long bones	5745	PTH1R	ORPHA:50945
HP:0006487	Bowing of the long bones	5745	PTH1R	OMIM:156400
HP:0006487	Bowing of the long bones	3977	LIFR	OMIM:601559
HP:0006487	Bowing of the long bones	3977	LIFR	ORPHA:3206
HP:0006487	Bowing of the long bones	4853	NOTCH2	ORPHA:955
HP:0006487	Bowing of the long bones	59341	TRPV4	OMIM:168400
HP:0006487	Bowing of the long bones	9321	TRIP11	ORPHA:166272
HP:0006487	Bowing of the long bones	11285	B4GALT7	OMIM:130070
HP:0006487	Bowing of the long bones	5251	PHEX	ORPHA:89936
HP:0006487	Bowing of the long bones	3572	IL6ST	OMIM:619751
HP:0006487	Bowing of the long bones	4318	MMP9	ORPHA:1040
HP:0006487	Bowing of the long bones	4322	MMP13	ORPHA:1040
HP:0006487	Bowing of the long bones	4322	MMP13	ORPHA:2501
HP:0006487	Bowing of the long bones	3043	HBB	ORPHA:231214
HP:0006487	Bowing of the long bones	3043	HBB	ORPHA:231226
HP:0006487	Bowing of the long bones	8200	GDF5	ORPHA:2098
HP:0006487	Bowing of the long bones	658	BMPR1B	ORPHA:2098
HP:0006487	Bowing of the long bones	5352	PLOD2	ORPHA:2771
HP:0006487	Bowing of the long bones	60681	FKBP10	ORPHA:2771
HP:0006487	Bowing of the long bones	1836	SLC26A2	ORPHA:628
HP:0006487	Bowing of the long bones	157570	ESCO2	ORPHA:3103
HP:0006487	Bowing of the long bones	285590	SH3PXD2B	OMIM:249420
HP:0006487	Bowing of the long bones	5130	PCYT1A	ORPHA:85167
HP:0006487	Bowing of the long bones	6514	SLC2A2	ORPHA:2088
HP:0006487	Bowing of the long bones	126792	B3GALT6	ORPHA:536467
HP:0006487	Bowing of the long bones	126792	B3GALT6	OMIM:615349
HP:0006487	Bowing of the long bones	3339	HSPG2	OMIM:224410
HP:0006487	Bowing of the long bones	3339	HSPG2	OMIM:255800
HP:0006487	Bowing of the long bones	3339	HSPG2	ORPHA:800
HP:0006487	Bowing of the long bones	2260	FGFR1	OMIM:166250
HP:0006487	Bowing of the long bones	7476	WNT7A	ORPHA:2879
HP:0006487	Bowing of the long bones	1280	COL2A1	ORPHA:85166
HP:0006487	Bowing of the long bones	5479	PPIB	OMIM:259440
HP:0006487	Bowing of the long bones	4882	NPR2	ORPHA:40
HP:0006487	Bowing of the long bones	6473	SHOX	ORPHA:2632
HP:0006487	Bowing of the long bones	203859	ANO5	ORPHA:53697
HP:0006487	Bowing of the long bones	203859	ANO5	OMIM:166260
HP:0006487	Bowing of the long bones	57539	WDR35	OMIM:614091
HP:0006487	Bowing of the long bones	80169	CTC1	OMIM:612199
HP:0006487	Bowing of the long bones	2200	FBN1	ORPHA:2462
HP:0006487	Bowing of the long bones	6497	SKI	ORPHA:2462
HP:0006487	Bowing of the long bones	871	SERPINH1	OMIM:613848
HP:0006487	Bowing of the long bones	121340	SP7	OMIM:613849
HP:0006487	Bowing of the long bones	57003	CCDC47	OMIM:618268
HP:0010048	Aplasia of metacarpal bones	6910	TBX5	OMIM:142900
HP:0010048	Aplasia of metacarpal bones	7516	XRCC2	OMIM:617247
HP:0010048	Aplasia of metacarpal bones	2177	FANCD2	OMIM:227646
HP:0010048	Aplasia of metacarpal bones	9896	FIG4	ORPHA:3472
HP:0010048	Aplasia of metacarpal bones	55697	VAC14	ORPHA:3472
HP:0010048	Aplasia of metacarpal bones	6469	SHH	ORPHA:93321
HP:0010048	Aplasia of metacarpal bones	7204	TRIO	ORPHA:476126
HP:0010048	Aplasia of metacarpal bones	2737	GLI3	ORPHA:93322
HP:0010048	Aplasia of metacarpal bones	6926	TBX3	OMIM:181450
HP:0010048	Aplasia of metacarpal bones	9401	RECQL4	OMIM:218600
HP:0010048	Aplasia of metacarpal bones	64327	LMBR1	OMIM:200500
HP:0010048	Aplasia of metacarpal bones	57167	SALL4	OMIM:607323
HP:0005912	Biliary atresia	9361	LONP1	ORPHA:1458
HP:0005912	Biliary atresia	9076	CLDN1	OMIM:607626
HP:0005912	Biliary atresia	56623	INPP5E	ORPHA:1454
HP:0005912	Biliary atresia	91147	TMEM67	ORPHA:1454
HP:0005912	Biliary atresia	23322	RPGRIP1L	ORPHA:1454
HP:0005912	Biliary atresia	57545	CC2D2A	ORPHA:1454
HP:0005912	Biliary atresia	26123	TCTN3	OMIM:614815
HP:0005912	Biliary atresia	26276	VPS33B	OMIM:208085
HP:0005912	Biliary atresia	2627	GATA6	OMIM:600001
HP:0005912	Biliary atresia	2627	GATA6	ORPHA:2255
HP:0005912	Biliary atresia	222546	RFX6	OMIM:615710
HP:0005912	Biliary atresia	7547	ZIC3	OMIM:306955
HP:0005912	Biliary atresia	2072	ERCC4	OMIM:615272
HP:0005913	Abnormal metacarpal epiphysis morphology	5447	POR	ORPHA:95699
HP:0005913	Abnormal metacarpal epiphysis morphology	5573	PRKAR1A	ORPHA:950
HP:0005913	Abnormal metacarpal epiphysis morphology	5144	PDE4D	ORPHA:950
HP:0005913	Abnormal metacarpal epiphysis morphology	3549	IHH	OMIM:607778
HP:0005913	Abnormal metacarpal epiphysis morphology	3549	IHH	ORPHA:63446
HP:0005913	Abnormal metacarpal epiphysis morphology	633	BGN	OMIM:300106
HP:0005913	Abnormal metacarpal epiphysis morphology	2879	GPX4	OMIM:250220
HP:0005913	Abnormal metacarpal epiphysis morphology	6299	SALL1	OMIM:107480
HP:0005913	Abnormal metacarpal epiphysis morphology	1297	COL9A1	ORPHA:166002
HP:0005913	Abnormal metacarpal epiphysis morphology	1298	COL9A2	ORPHA:166002
HP:0005913	Abnormal metacarpal epiphysis morphology	1299	COL9A3	ORPHA:166002
HP:0005913	Abnormal metacarpal epiphysis morphology	54928	BPNT2	OMIM:614078
HP:0005913	Abnormal metacarpal epiphysis morphology	25839	COG4	OMIM:618150
HP:0005913	Abnormal metacarpal epiphysis morphology	5116	PCNT	OMIM:210720
HP:0005913	Abnormal metacarpal epiphysis morphology	6197	RPS6KA3	ORPHA:192
HP:0005913	Abnormal metacarpal epiphysis morphology	7468	NSD2	OMIM:194190
HP:0005913	Abnormal metacarpal epiphysis morphology	10815	CPLX1	OMIM:194190
HP:0005913	Abnormal metacarpal epiphysis morphology	1487	CTBP1	OMIM:194190
HP:0005913	Abnormal metacarpal epiphysis morphology	53834	FGFRL1	OMIM:194190
HP:0005913	Abnormal metacarpal epiphysis morphology	3954	LETM1	OMIM:194190
HP:0005913	Abnormal metacarpal epiphysis morphology	4883	NPR3	OMIM:619543
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	4920	ROR2	OMIM:268310
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	8200	GDF5	OMIM:200700
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	8200	GDF5	ORPHA:2098
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	5980	REV3L	ORPHA:570
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	23129	PLXND1	ORPHA:570
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	658	BMPR1B	ORPHA:2098
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	7476	WNT7A	OMIM:276820
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	7476	WNT7A	OMIM:228930
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	8626	TP63	OMIM:605289
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	860	RUNX2	OMIM:119600
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	9719	ADAMTSL2	OMIM:231050
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	2535	FZD2	OMIM:164745
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	2535	FZD2	ORPHA:93328
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	23476	BRD4	ORPHA:199
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	23476	BRD4	OMIM:620568
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	9126	SMC3	ORPHA:199
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	8243	SMC1A	ORPHA:199
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	6878	TAF6	ORPHA:199
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	25836	NIPBL	ORPHA:199
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	55869	HDAC8	ORPHA:199
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	5885	RAD21	ORPHA:199
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	90	ACVR1	OMIM:135100
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	57020	VPS35L	OMIM:619135
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	10262	SF3B4	OMIM:154400
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	9241	NOG	OMIM:186570
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	9241	NOG	OMIM:611377
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	6091	ROBO1	OMIM:620305
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	3209	HOXA13	OMIM:140000
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	3209	HOXA13	ORPHA:2438
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	6910	TBX5	OMIM:142900
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	55215	FANCI	OMIM:609053
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	6662	SOX9	OMIM:114290
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	5116	PCNT	OMIM:210720
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	26040	SETBP1	OMIM:269150
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	26040	SETBP1	ORPHA:798
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	388015	RTL1	ORPHA:96334
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	8788	DLK1	ORPHA:96334
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	55384	MEG3	ORPHA:96334
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	3911	LAMA5	OMIM:620076
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	124583	CANT1	OMIM:251450
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	7516	XRCC2	OMIM:617247
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	2177	FANCD2	OMIM:227646
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	9896	FIG4	ORPHA:3472
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	55697	VAC14	ORPHA:3472
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	6469	SHH	ORPHA:93321
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	7204	TRIO	ORPHA:476126
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	2737	GLI3	ORPHA:93322
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	650	BMP2	ORPHA:93396
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	6926	TBX3	OMIM:181450
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	374969	SVBP	OMIM:618569
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	55612	FERMT1	ORPHA:2908
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	94005	PIGS	OMIM:618143
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	6473	SHOX	OMIM:127300
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	6736	SRY	ORPHA:1772
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	79633	FAT4	OMIM:615546
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	51715	RAB23	ORPHA:65759
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	1954	MEGF8	ORPHA:65759
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	8642	DCHS1	OMIM:601390
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	26224	FBXL3	OMIM:606220
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	5727	PTCH1	OMIM:109400
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	8823	FGF16	OMIM:309630
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	9401	RECQL4	OMIM:218600
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	64327	LMBR1	OMIM:200500
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	57167	SALL4	OMIM:607323
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	2137	EXTL3	ORPHA:508533
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	1280	COL2A1	OMIM:271700
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	1280	COL2A1	OMIM:609162
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	9361	LONP1	OMIM:600373
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	9361	LONP1	ORPHA:1458
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	5573	PRKAR1A	ORPHA:950
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	5573	PRKAR1A	OMIM:101800
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	5144	PDE4D	ORPHA:950
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	5144	PDE4D	ORPHA:439822
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	5144	PDE4D	OMIM:614613
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	64374	SIL1	OMIM:248800
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	4921	DDR2	OMIM:271665
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	54808	DYM	OMIM:607326
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	54808	DYM	OMIM:223800
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	2131	EXT1	OMIM:133700
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	2131	EXT1	ORPHA:321
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	2132	EXT2	OMIM:133701
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	2132	EXT2	ORPHA:321
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	1763	DNA2	OMIM:620819
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	2879	GPX4	ORPHA:93317
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	2879	GPX4	OMIM:250220
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	100151683	RNU4ATAC	OMIM:210710
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	100151683	RNU4ATAC	OMIM:616651
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	6885	MAP3K7	OMIM:617137
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	6885	MAP3K7	ORPHA:1826
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	9759	HDAC4	ORPHA:1001
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	9759	HDAC4	OMIM:600430
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	89970	RSPRY1	OMIM:616723
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	89970	RSPRY1	ORPHA:457395
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	55733	HHAT	OMIM:600092
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	55733	HHAT	ORPHA:1422
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	90459	ERI1	OMIM:620662
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	5447	POR	ORPHA:95699
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	1836	SLC26A2	ORPHA:56304
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	1836	SLC26A2	ORPHA:93307
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	1836	SLC26A2	OMIM:226900
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	114803	MYSM1	ORPHA:508542
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	149775	GNAS-AS1	OMIM:603233
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	2778	GNAS	OMIM:603233
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	2778	GNAS	OMIM:612463
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	2778	GNAS	OMIM:612462
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	2778	GNAS	ORPHA:79443
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	2778	GNAS	ORPHA:79444
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	2778	GNAS	OMIM:103580
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	8675	STX16	OMIM:603233
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	117581	TWIST2	OMIM:200110
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	10686	CLDN16	OMIM:248250
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	10847	SRCAP	ORPHA:2044
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	25782	RAB3GAP2	OMIM:212720
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	5744	PTHLH	ORPHA:93387
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	5744	PTHLH	OMIM:613382
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	3239	HOXD13	ORPHA:93387
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	3239	HOXD13	OMIM:113300
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	10225	CD96	OMIM:211750
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	64175	P3H1	OMIM:610915
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	6197	RPS6KA3	OMIM:303600
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	6197	RPS6KA3	ORPHA:192
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	9469	CHST3	ORPHA:263463
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	9469	CHST3	OMIM:143095
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	54496	PRMT7	OMIM:617157
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	64131	XYLT1	OMIM:615777
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	2200	FBN1	ORPHA:969
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	2200	FBN1	OMIM:608328
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	2200	FBN1	OMIM:102370
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	4054	LTBP3	ORPHA:969
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	3759	KCNJ2	OMIM:170390
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	2317	FLNB	OMIM:108720
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	2317	FLNB	OMIM:272460
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	2317	FLNB	OMIM:150250
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	157680	VPS13B	OMIM:216550
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	5139	PDE3A	OMIM:112410
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	5139	PDE3A	ORPHA:1276
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	3549	IHH	OMIM:607778
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	3549	IHH	OMIM:112500
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	633	BGN	OMIM:300106
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	5745	PTH1R	ORPHA:50945
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	1311	COMP	OMIM:132400
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	1311	COMP	OMIM:177170
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	29980	DONSON	OMIM:617604
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	64840	PORCN	OMIM:305600
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	4882	NPR2	OMIM:602875
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	145173	B3GLCT	OMIM:261540
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	5593	PRKG2	OMIM:619636
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	10283	CWC27	OMIM:250410
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	10283	CWC27	ORPHA:166035
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	4810	NHS	ORPHA:627
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	25839	COG4	OMIM:618150
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	3636	INPPL1	OMIM:258480
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	9321	TRIP11	OMIM:184260
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	5130	PCYT1A	ORPHA:85167
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	5130	PCYT1A	OMIM:608940
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	54928	BPNT2	OMIM:614078
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	51098	IFT52	OMIM:617102
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	1299	COL9A3	OMIM:600969
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	2316	FLNA	OMIM:304120
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	2316	FLNA	ORPHA:1826
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	4148	MATN3	OMIM:607078
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	126792	B3GALT6	OMIM:271640
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	126792	B3GALT6	OMIM:615349
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	55252	ASXL2	OMIM:617190
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	3930	LBR	OMIM:215140
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	5264	PHYH	ORPHA:773
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	5191	PEX7	ORPHA:773
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	23483	TGDS	OMIM:616145
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	2260	FGFR1	OMIM:166250
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	1788	DNMT3A	OMIM:618724
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	1302	COL11A2	ORPHA:1427
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	5498	PPOX	OMIM:620483
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	22856	CHSY1	OMIM:605282
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	6595	SMARCA2	OMIM:601358
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	9775	EIF4A3	OMIM:268305
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	54101	RIPK4	OMIM:263650
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	83452	RAB33B	OMIM:615222
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	91252	SLC39A13	OMIM:612350
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	57560	IFT80	OMIM:611263
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	1297	COL9A1	OMIM:614134
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	25871	NEPRO	OMIM:618853
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	7227	TRPS1	OMIM:190350
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	7227	TRPS1	OMIM:190351
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	7227	TRPS1	ORPHA:77258
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	90417	KNSTRN	OMIM:613328
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	5293	PIK3CD	OMIM:613328
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	25886	POC1A	OMIM:614813
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	6023	RMRP	OMIM:250460
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	64682	ANAPC1	ORPHA:221008
HP:0009701	Metacarpal synostosis	8823	FGF16	OMIM:309630
HP:0009701	Metacarpal synostosis	64093	SMOC1	OMIM:206920
HP:0009701	Metacarpal synostosis	9775	EIF4A3	OMIM:268305
HP:0009701	Metacarpal synostosis	9241	NOG	ORPHA:3250
HP:0009701	Metacarpal synostosis	9241	NOG	OMIM:185800
HP:0009701	Metacarpal synostosis	8200	GDF5	ORPHA:3250
HP:0009701	Metacarpal synostosis	10084	PQBP1	OMIM:309500
HP:0009701	Metacarpal synostosis	3239	HOXD13	ORPHA:93406
HP:0009701	Metacarpal synostosis	727857	BHLHA9	ORPHA:157801
HP:0009701	Metacarpal synostosis	2192	FBLN1	OMIM:608180
HP:0009701	Metacarpal synostosis	2254	FGF9	OMIM:612961
HP:0009701	Metacarpal synostosis	4038	LRP4	OMIM:212780
HP:0009701	Metacarpal synostosis	7291	TWIST1	ORPHA:35099
HP:0009701	Metacarpal synostosis	2261	FGFR3	ORPHA:35099
HP:0009701	Metacarpal synostosis	6938	TCF12	ORPHA:35099
HP:0009701	Metacarpal synostosis	7545	ZIC1	ORPHA:35099
HP:0009701	Metacarpal synostosis	5447	POR	ORPHA:95699
HP:0009701	Metacarpal synostosis	4841	NONO	ORPHA:466791
HP:0005916	Abnormal metacarpal morphology	2588	GALNS	OMIM:253000
HP:0005916	Abnormal metacarpal morphology	4313	MMP2	ORPHA:371428
HP:0005916	Abnormal metacarpal morphology	4313	MMP2	OMIM:259600
HP:0005916	Abnormal metacarpal morphology	4323	MMP14	ORPHA:371428
HP:0005916	Abnormal metacarpal morphology	4323	MMP14	OMIM:277950
HP:0005916	Abnormal metacarpal morphology	2137	EXTL3	ORPHA:508533
HP:0005916	Abnormal metacarpal morphology	4921	DDR2	OMIM:271665
HP:0005916	Abnormal metacarpal morphology	2200	FBN1	OMIM:608328
HP:0005916	Abnormal metacarpal morphology	4882	NPR2	OMIM:602875
HP:0005916	Abnormal metacarpal morphology	7030	TFE3	OMIM:301066
HP:0005916	Abnormal metacarpal morphology	633	BGN	OMIM:300106
HP:0005916	Abnormal metacarpal morphology	9742	IFT140	OMIM:266920
HP:0005916	Abnormal metacarpal morphology	2260	FGFR1	OMIM:166250
HP:0005916	Abnormal metacarpal morphology	1788	DNMT3A	OMIM:618724
HP:0005916	Abnormal metacarpal morphology	2720	GLB1	ORPHA:79255
HP:0005916	Abnormal metacarpal morphology	3549	IHH	ORPHA:93388
HP:0005916	Abnormal metacarpal morphology	658	BMPR1B	ORPHA:93388
HP:0005916	Abnormal metacarpal morphology	81794	ADAMTS10	OMIM:277600
HP:0005916	Abnormal metacarpal morphology	6469	SHH	ORPHA:93405
HP:0005916	Abnormal metacarpal morphology	9935	MAFB	OMIM:166300
HP:0005916	Abnormal metacarpal morphology	9935	MAFB	ORPHA:2774
HP:0005916	Abnormal metacarpal morphology	5447	POR	ORPHA:95699
HP:0005916	Abnormal metacarpal morphology	4920	ROR2	OMIM:268310
HP:0005916	Abnormal metacarpal morphology	5980	REV3L	ORPHA:570
HP:0005916	Abnormal metacarpal morphology	23129	PLXND1	ORPHA:570
HP:0005916	Abnormal metacarpal morphology	7476	WNT7A	OMIM:276820
HP:0005916	Abnormal metacarpal morphology	7476	WNT7A	OMIM:228930
HP:0005916	Abnormal metacarpal morphology	8626	TP63	OMIM:605289
HP:0005916	Abnormal metacarpal morphology	5573	PRKAR1A	ORPHA:950
HP:0005916	Abnormal metacarpal morphology	5144	PDE4D	ORPHA:950
HP:0005916	Abnormal metacarpal morphology	6910	TBX5	ORPHA:392
HP:0005916	Abnormal metacarpal morphology	29957	SLC25A24	ORPHA:2095
HP:0005916	Abnormal metacarpal morphology	9791	PTDSS1	ORPHA:2658
HP:0005916	Abnormal metacarpal morphology	64327	LMBR1	ORPHA:2378
HP:0005916	Abnormal metacarpal morphology	285590	SH3PXD2B	ORPHA:137834
HP:0005916	Abnormal metacarpal morphology	1836	SLC26A2	ORPHA:628
HP:0005916	Abnormal metacarpal morphology	6473	SHOX	OMIM:127300
HP:0005916	Abnormal metacarpal morphology	207	AKT1	ORPHA:744
HP:0005916	Abnormal metacarpal morphology	6595	SMARCA2	ORPHA:3051
HP:0005916	Abnormal metacarpal morphology	9241	NOG	ORPHA:3250
HP:0005916	Abnormal metacarpal morphology	8200	GDF5	ORPHA:3250
HP:0005916	Abnormal metacarpal morphology	1717	DHCR7	ORPHA:818
HP:0005916	Abnormal metacarpal morphology	3516	RBPJ	ORPHA:974
HP:0005916	Abnormal metacarpal morphology	4851	NOTCH1	ORPHA:974
HP:0005916	Abnormal metacarpal morphology	57514	ARHGAP31	ORPHA:974
HP:0005916	Abnormal metacarpal morphology	57572	DOCK6	ORPHA:974
HP:0005916	Abnormal metacarpal morphology	285203	EOGT	ORPHA:974
HP:0005916	Abnormal metacarpal morphology	54567	DLL4	ORPHA:974
HP:0005916	Abnormal metacarpal morphology	4038	LRP4	ORPHA:3258
HP:0005916	Abnormal metacarpal morphology	324	APC	ORPHA:3258
HP:0005916	Abnormal metacarpal morphology	6926	TBX3	ORPHA:3138
HP:0005916	Abnormal metacarpal morphology	2261	FGFR3	ORPHA:93262
HP:0005916	Abnormal metacarpal morphology	9401	RECQL4	ORPHA:1225
HP:0005916	Abnormal metacarpal morphology	100151683	RNU4ATAC	ORPHA:2636
HP:0005916	Abnormal metacarpal morphology	2317	FLNB	ORPHA:1263
HP:0005916	Abnormal metacarpal morphology	8195	MKKS	ORPHA:2473
HP:0005916	Abnormal metacarpal morphology	157570	ESCO2	ORPHA:2319
HP:0005916	Abnormal metacarpal morphology	157570	ESCO2	OMIM:268300
HP:0005916	Abnormal metacarpal morphology	64093	SMOC1	ORPHA:1106
HP:0005916	Abnormal metacarpal morphology	1186	CLCN7	ORPHA:53
HP:0005916	Abnormal metacarpal morphology	860	RUNX2	ORPHA:1452
HP:0005916	Abnormal metacarpal morphology	1302	COL11A2	ORPHA:166100
HP:0005916	Abnormal metacarpal morphology	1280	COL2A1	ORPHA:166100
HP:0005916	Abnormal metacarpal morphology	64374	SIL1	ORPHA:559
HP:0005916	Abnormal metacarpal morphology	2316	FLNA	ORPHA:90650
HP:0005916	Abnormal metacarpal morphology	2316	FLNA	ORPHA:90652
HP:0005916	Abnormal metacarpal morphology	2737	GLI3	ORPHA:672
HP:0005916	Abnormal metacarpal morphology	11020	IFT27	OMIM:615996
HP:0005916	Abnormal metacarpal morphology	3239	HOXD13	OMIM:186000
HP:0005916	Abnormal metacarpal morphology	4750	NEK1	ORPHA:2751
HP:0005916	Abnormal metacarpal morphology	4784	NFIX	OMIM:602535
HP:0005916	Abnormal metacarpal morphology	9365	KL	OMIM:617994
HP:0005916	Abnormal metacarpal morphology	2879	GPX4	OMIM:250220
HP:0005916	Abnormal metacarpal morphology	171023	ASXL1	ORPHA:97297
HP:0005916	Abnormal metacarpal morphology	11342	RNF13	ORPHA:544503
HP:0005916	Abnormal metacarpal morphology	29895	MYL11	OMIM:619110
HP:0005916	Abnormal metacarpal morphology	6678	SPARC	OMIM:616507
HP:0005916	Abnormal metacarpal morphology	1281	COL3A1	OMIM:130050
HP:0005916	Abnormal metacarpal morphology	26229	B3GAT3	OMIM:245600
HP:0005916	Abnormal metacarpal morphology	2332	FMR1	OMIM:300624
HP:0005916	Abnormal metacarpal morphology	2990	GUSB	OMIM:253220
HP:0005916	Abnormal metacarpal morphology	65250	CPLANE1	OMIM:277170
HP:0005916	Abnormal metacarpal morphology	65250	CPLANE1	ORPHA:2754
HP:0005916	Abnormal metacarpal morphology	27152	INTU	OMIM:617926
HP:0005916	Abnormal metacarpal morphology	79583	TMEM231	ORPHA:2754
HP:0005916	Abnormal metacarpal morphology	10210	TOPORS	ORPHA:2754
HP:0005916	Abnormal metacarpal morphology	9851	KIAA0753	ORPHA:2754
HP:0005916	Abnormal metacarpal morphology	26123	TCTN3	ORPHA:2754
HP:0005916	Abnormal metacarpal morphology	5147	PDE6D	ORPHA:2754
HP:0005916	Abnormal metacarpal morphology	51259	TMEM216	ORPHA:2754
HP:0005916	Abnormal metacarpal morphology	8481	OFD1	ORPHA:2754
HP:0005916	Abnormal metacarpal morphology	317662	FAM149B1	ORPHA:2754
HP:0005916	Abnormal metacarpal morphology	374654	KIF7	ORPHA:2754
HP:0005916	Abnormal metacarpal morphology	9719	ADAMTSL2	OMIM:231050
HP:0005916	Abnormal metacarpal morphology	4041	LRP5	OMIM:144750
HP:0005916	Abnormal metacarpal morphology	6299	SALL1	OMIM:107480
HP:0005916	Abnormal metacarpal morphology	64135	IFIH1	OMIM:182250
HP:0005916	Abnormal metacarpal morphology	3835	KIF22	ORPHA:93360
HP:0005916	Abnormal metacarpal morphology	54543	TOMM7	OMIM:620601
HP:0005916	Abnormal metacarpal morphology	91179	SCARF2	OMIM:600920
HP:0005916	Abnormal metacarpal morphology	1297	COL9A1	ORPHA:166002
HP:0005916	Abnormal metacarpal morphology	1298	COL9A2	ORPHA:166002
HP:0005916	Abnormal metacarpal morphology	1299	COL9A3	ORPHA:166002
HP:0005916	Abnormal metacarpal morphology	54928	BPNT2	OMIM:614078
HP:0005916	Abnormal metacarpal morphology	25839	COG4	OMIM:618150
HP:0005916	Abnormal metacarpal morphology	5116	PCNT	OMIM:210720
HP:0005916	Abnormal metacarpal morphology	6197	RPS6KA3	ORPHA:192
HP:0005916	Abnormal metacarpal morphology	7468	NSD2	OMIM:194190
HP:0005916	Abnormal metacarpal morphology	10815	CPLX1	OMIM:194190
HP:0005916	Abnormal metacarpal morphology	1487	CTBP1	OMIM:194190
HP:0005916	Abnormal metacarpal morphology	53834	FGFRL1	OMIM:194190
HP:0005916	Abnormal metacarpal morphology	3954	LETM1	OMIM:194190
HP:0005916	Abnormal metacarpal morphology	10084	PQBP1	OMIM:309500
HP:0005916	Abnormal metacarpal morphology	727857	BHLHA9	ORPHA:157801
HP:0005916	Abnormal metacarpal morphology	2192	FBLN1	OMIM:608180
HP:0005916	Abnormal metacarpal morphology	2254	FGF9	OMIM:612961
HP:0005916	Abnormal metacarpal morphology	7291	TWIST1	ORPHA:35099
HP:0005916	Abnormal metacarpal morphology	6938	TCF12	ORPHA:35099
HP:0005916	Abnormal metacarpal morphology	7545	ZIC1	ORPHA:35099
HP:0005916	Abnormal metacarpal morphology	4841	NONO	ORPHA:466791
HP:0005916	Abnormal metacarpal morphology	79848	CSPP1	ORPHA:397715
HP:0005916	Abnormal metacarpal morphology	9786	KIAA0586	ORPHA:397715
HP:0005916	Abnormal metacarpal morphology	4883	NPR3	OMIM:619543
HP:0005916	Abnormal metacarpal morphology	2778	GNAS	ORPHA:79443
HP:0005916	Abnormal metacarpal morphology	2535	FZD2	OMIM:164745
HP:0005916	Abnormal metacarpal morphology	2535	FZD2	ORPHA:93328
HP:0005916	Abnormal metacarpal morphology	23476	BRD4	ORPHA:199
HP:0005916	Abnormal metacarpal morphology	23476	BRD4	OMIM:620568
HP:0005916	Abnormal metacarpal morphology	9126	SMC3	ORPHA:199
HP:0005916	Abnormal metacarpal morphology	8243	SMC1A	ORPHA:199
HP:0005916	Abnormal metacarpal morphology	6878	TAF6	ORPHA:199
HP:0005916	Abnormal metacarpal morphology	25836	NIPBL	ORPHA:199
HP:0005916	Abnormal metacarpal morphology	55869	HDAC8	ORPHA:199
HP:0005916	Abnormal metacarpal morphology	5885	RAD21	ORPHA:199
HP:0005916	Abnormal metacarpal morphology	90	ACVR1	OMIM:135100
HP:0005916	Abnormal metacarpal morphology	57020	VPS35L	OMIM:619135
HP:0005916	Abnormal metacarpal morphology	10262	SF3B4	OMIM:154400
HP:0005916	Abnormal metacarpal morphology	6091	ROBO1	OMIM:620305
HP:0005916	Abnormal metacarpal morphology	3209	HOXA13	OMIM:140000
HP:0005916	Abnormal metacarpal morphology	3209	HOXA13	ORPHA:2438
HP:0005916	Abnormal metacarpal morphology	55215	FANCI	OMIM:609053
HP:0005916	Abnormal metacarpal morphology	6662	SOX9	OMIM:114290
HP:0005916	Abnormal metacarpal morphology	26040	SETBP1	OMIM:269150
HP:0005916	Abnormal metacarpal morphology	26040	SETBP1	ORPHA:798
HP:0005916	Abnormal metacarpal morphology	388015	RTL1	ORPHA:96334
HP:0005916	Abnormal metacarpal morphology	8788	DLK1	ORPHA:96334
HP:0005916	Abnormal metacarpal morphology	55384	MEG3	ORPHA:96334
HP:0005916	Abnormal metacarpal morphology	3911	LAMA5	OMIM:620076
HP:0005916	Abnormal metacarpal morphology	124583	CANT1	OMIM:251450
HP:0005916	Abnormal metacarpal morphology	7516	XRCC2	OMIM:617247
HP:0005916	Abnormal metacarpal morphology	2177	FANCD2	OMIM:227646
HP:0005916	Abnormal metacarpal morphology	9896	FIG4	ORPHA:3472
HP:0005916	Abnormal metacarpal morphology	55697	VAC14	ORPHA:3472
HP:0005916	Abnormal metacarpal morphology	7204	TRIO	ORPHA:476126
HP:0005916	Abnormal metacarpal morphology	650	BMP2	ORPHA:93396
HP:0005916	Abnormal metacarpal morphology	374969	SVBP	OMIM:618569
HP:0005916	Abnormal metacarpal morphology	55612	FERMT1	ORPHA:2908
HP:0005916	Abnormal metacarpal morphology	94005	PIGS	OMIM:618143
HP:0005916	Abnormal metacarpal morphology	6736	SRY	ORPHA:1772
HP:0005916	Abnormal metacarpal morphology	79633	FAT4	OMIM:615546
HP:0005916	Abnormal metacarpal morphology	51715	RAB23	ORPHA:65759
HP:0005916	Abnormal metacarpal morphology	1954	MEGF8	ORPHA:65759
HP:0005916	Abnormal metacarpal morphology	8642	DCHS1	OMIM:601390
HP:0005916	Abnormal metacarpal morphology	26224	FBXL3	OMIM:606220
HP:0005916	Abnormal metacarpal morphology	5727	PTCH1	OMIM:109400
HP:0005916	Abnormal metacarpal morphology	8823	FGF16	OMIM:309630
HP:0005916	Abnormal metacarpal morphology	57167	SALL4	OMIM:607323
HP:0005916	Abnormal metacarpal morphology	9361	LONP1	OMIM:600373
HP:0005916	Abnormal metacarpal morphology	9361	LONP1	ORPHA:1458
HP:0005916	Abnormal metacarpal morphology	54808	DYM	OMIM:607326
HP:0005916	Abnormal metacarpal morphology	54808	DYM	OMIM:223800
HP:0005916	Abnormal metacarpal morphology	2131	EXT1	OMIM:133700
HP:0005916	Abnormal metacarpal morphology	2131	EXT1	ORPHA:321
HP:0005916	Abnormal metacarpal morphology	2132	EXT2	OMIM:133701
HP:0005916	Abnormal metacarpal morphology	2132	EXT2	ORPHA:321
HP:0005916	Abnormal metacarpal morphology	1763	DNA2	OMIM:620819
HP:0005916	Abnormal metacarpal morphology	6885	MAP3K7	OMIM:617137
HP:0005916	Abnormal metacarpal morphology	6885	MAP3K7	ORPHA:1826
HP:0005916	Abnormal metacarpal morphology	9759	HDAC4	ORPHA:1001
HP:0005916	Abnormal metacarpal morphology	9759	HDAC4	OMIM:600430
HP:0005916	Abnormal metacarpal morphology	89970	RSPRY1	OMIM:616723
HP:0005916	Abnormal metacarpal morphology	89970	RSPRY1	ORPHA:457395
HP:0005916	Abnormal metacarpal morphology	55733	HHAT	OMIM:600092
HP:0005916	Abnormal metacarpal morphology	55733	HHAT	ORPHA:1422
HP:0005916	Abnormal metacarpal morphology	90459	ERI1	OMIM:620662
HP:0005916	Abnormal metacarpal morphology	114803	MYSM1	ORPHA:508542
HP:0005916	Abnormal metacarpal morphology	149775	GNAS-AS1	OMIM:603233
HP:0005916	Abnormal metacarpal morphology	8675	STX16	OMIM:603233
HP:0005916	Abnormal metacarpal morphology	117581	TWIST2	OMIM:200110
HP:0005916	Abnormal metacarpal morphology	10686	CLDN16	OMIM:248250
HP:0005916	Abnormal metacarpal morphology	10847	SRCAP	ORPHA:2044
HP:0005916	Abnormal metacarpal morphology	25782	RAB3GAP2	OMIM:212720
HP:0005916	Abnormal metacarpal morphology	5744	PTHLH	ORPHA:93387
HP:0005916	Abnormal metacarpal morphology	5744	PTHLH	OMIM:613382
HP:0005916	Abnormal metacarpal morphology	10225	CD96	OMIM:211750
HP:0005916	Abnormal metacarpal morphology	64175	P3H1	OMIM:610915
HP:0005916	Abnormal metacarpal morphology	9469	CHST3	ORPHA:263463
HP:0005916	Abnormal metacarpal morphology	9469	CHST3	OMIM:143095
HP:0005916	Abnormal metacarpal morphology	54496	PRMT7	OMIM:617157
HP:0005916	Abnormal metacarpal morphology	64131	XYLT1	OMIM:615777
HP:0005916	Abnormal metacarpal morphology	4054	LTBP3	ORPHA:969
HP:0005916	Abnormal metacarpal morphology	3759	KCNJ2	OMIM:170390
HP:0005916	Abnormal metacarpal morphology	157680	VPS13B	OMIM:216550
HP:0005916	Abnormal metacarpal morphology	5139	PDE3A	OMIM:112410
HP:0005916	Abnormal metacarpal morphology	5139	PDE3A	ORPHA:1276
HP:0005916	Abnormal metacarpal morphology	5745	PTH1R	ORPHA:50945
HP:0005916	Abnormal metacarpal morphology	1311	COMP	OMIM:132400
HP:0005916	Abnormal metacarpal morphology	1311	COMP	OMIM:177170
HP:0005916	Abnormal metacarpal morphology	29980	DONSON	OMIM:617604
HP:0005916	Abnormal metacarpal morphology	64840	PORCN	OMIM:305600
HP:0005916	Abnormal metacarpal morphology	145173	B3GLCT	OMIM:261540
HP:0005916	Abnormal metacarpal morphology	5593	PRKG2	OMIM:619636
HP:0005916	Abnormal metacarpal morphology	10283	CWC27	OMIM:250410
HP:0005916	Abnormal metacarpal morphology	10283	CWC27	ORPHA:166035
HP:0005916	Abnormal metacarpal morphology	4810	NHS	ORPHA:627
HP:0005916	Abnormal metacarpal morphology	3636	INPPL1	OMIM:258480
HP:0005916	Abnormal metacarpal morphology	9321	TRIP11	OMIM:184260
HP:0005916	Abnormal metacarpal morphology	5130	PCYT1A	ORPHA:85167
HP:0005916	Abnormal metacarpal morphology	5130	PCYT1A	OMIM:608940
HP:0005916	Abnormal metacarpal morphology	51098	IFT52	OMIM:617102
HP:0005916	Abnormal metacarpal morphology	4148	MATN3	OMIM:607078
HP:0005916	Abnormal metacarpal morphology	126792	B3GALT6	OMIM:271640
HP:0005916	Abnormal metacarpal morphology	126792	B3GALT6	OMIM:615349
HP:0005916	Abnormal metacarpal morphology	55252	ASXL2	OMIM:617190
HP:0005916	Abnormal metacarpal morphology	3930	LBR	OMIM:215140
HP:0005916	Abnormal metacarpal morphology	5264	PHYH	ORPHA:773
HP:0005916	Abnormal metacarpal morphology	5191	PEX7	ORPHA:773
HP:0005916	Abnormal metacarpal morphology	23483	TGDS	OMIM:616145
HP:0005916	Abnormal metacarpal morphology	5498	PPOX	OMIM:620483
HP:0005916	Abnormal metacarpal morphology	22856	CHSY1	OMIM:605282
HP:0005916	Abnormal metacarpal morphology	9775	EIF4A3	OMIM:268305
HP:0005916	Abnormal metacarpal morphology	54101	RIPK4	OMIM:263650
HP:0005916	Abnormal metacarpal morphology	83452	RAB33B	OMIM:615222
HP:0005916	Abnormal metacarpal morphology	91252	SLC39A13	OMIM:612350
HP:0005916	Abnormal metacarpal morphology	57560	IFT80	OMIM:611263
HP:0005916	Abnormal metacarpal morphology	25871	NEPRO	OMIM:618853
HP:0005916	Abnormal metacarpal morphology	7227	TRPS1	OMIM:190350
HP:0005916	Abnormal metacarpal morphology	7227	TRPS1	OMIM:190351
HP:0005916	Abnormal metacarpal morphology	7227	TRPS1	ORPHA:77258
HP:0005916	Abnormal metacarpal morphology	90417	KNSTRN	OMIM:613328
HP:0005916	Abnormal metacarpal morphology	5293	PIK3CD	OMIM:613328
HP:0005916	Abnormal metacarpal morphology	25886	POC1A	OMIM:614813
HP:0005916	Abnormal metacarpal morphology	6023	RMRP	OMIM:250460
HP:0005916	Abnormal metacarpal morphology	64682	ANAPC1	ORPHA:221008
HP:0005916	Abnormal metacarpal morphology	64324	NSD1	OMIM:117550
HP:0005916	Abnormal metacarpal morphology	10216	PRG4	OMIM:208250
HP:0005916	Abnormal metacarpal morphology	10804	GJB6	ORPHA:189
HP:0005916	Abnormal metacarpal morphology	654	BMP6	ORPHA:465508
HP:0005916	Abnormal metacarpal morphology	3077	HFE	ORPHA:465508
HP:0005916	Abnormal metacarpal morphology	6775	STAT4	ORPHA:85408
HP:0005916	Abnormal metacarpal morphology	3560	IL2RB	ORPHA:85408
HP:0005916	Abnormal metacarpal morphology	79722	ANKRD55	ORPHA:85408
HP:0005916	Abnormal metacarpal morphology	26191	PTPN22	ORPHA:85408
HP:0005916	Abnormal metacarpal morphology	919	CD247	ORPHA:85408
HP:0005916	Abnormal metacarpal morphology	3559	IL2RA	ORPHA:85408
HP:0005916	Abnormal metacarpal morphology	5771	PTPN2	ORPHA:85408
HP:0005917	Supernumerary metacarpal bones	6469	SHH	ORPHA:93405
HP:0005917	Supernumerary metacarpal bones	3239	HOXD13	OMIM:186000
HP:0005917	Supernumerary metacarpal bones	2737	GLI3	ORPHA:672
HP:0005917	Supernumerary metacarpal bones	64327	LMBR1	OMIM:186200
HP:0009832	Abnormal distal phalanx morphology of finger	3549	IHH	OMIM:112500
HP:0009832	Abnormal distal phalanx morphology of finger	3549	IHH	ORPHA:93388
HP:0009832	Abnormal distal phalanx morphology of finger	9241	NOG	OMIM:611377
HP:0009832	Abnormal distal phalanx morphology of finger	9241	NOG	OMIM:186570
HP:0009832	Abnormal distal phalanx morphology of finger	9241	NOG	OMIM:185800
HP:0009832	Abnormal distal phalanx morphology of finger	8200	GDF5	ORPHA:93388
HP:0009832	Abnormal distal phalanx morphology of finger	658	BMPR1B	ORPHA:93388
HP:0009832	Abnormal distal phalanx morphology of finger	10236	HNRNPR	OMIM:620073
HP:0009832	Abnormal distal phalanx morphology of finger	57492	ARID1B	OMIM:135900
HP:0009832	Abnormal distal phalanx morphology of finger	3481	IGF2	OMIM:180860
HP:0009832	Abnormal distal phalanx morphology of finger	6598	SMARCB1	OMIM:614608
HP:0009832	Abnormal distal phalanx morphology of finger	3930	LBR	OMIM:215140
HP:0009832	Abnormal distal phalanx morphology of finger	29957	SLC25A24	OMIM:612289
HP:0009832	Abnormal distal phalanx morphology of finger	7048	TGFBR2	OMIM:610168
HP:0009832	Abnormal distal phalanx morphology of finger	1147	CHUK	OMIM:619339
HP:0009832	Abnormal distal phalanx morphology of finger	3782	KCNN3	OMIM:618658
HP:0009832	Abnormal distal phalanx morphology of finger	57572	DOCK6	OMIM:614219
HP:0009832	Abnormal distal phalanx morphology of finger	84295	PHF6	OMIM:301900
HP:0009832	Abnormal distal phalanx morphology of finger	84992	PIGY	ORPHA:247262
HP:0009832	Abnormal distal phalanx morphology of finger	84992	PIGY	OMIM:616809
HP:0009832	Abnormal distal phalanx morphology of finger	84720	PIGO	ORPHA:247262
HP:0009832	Abnormal distal phalanx morphology of finger	84720	PIGO	OMIM:614749
HP:0009832	Abnormal distal phalanx morphology of finger	93210	PGAP3	ORPHA:247262
HP:0009832	Abnormal distal phalanx morphology of finger	93210	PGAP3	OMIM:615716
HP:0009832	Abnormal distal phalanx morphology of finger	284098	PIGW	ORPHA:247262
HP:0009832	Abnormal distal phalanx morphology of finger	27315	PGAP2	ORPHA:247262
HP:0009832	Abnormal distal phalanx morphology of finger	27315	PGAP2	OMIM:614207
HP:0009832	Abnormal distal phalanx morphology of finger	9487	PIGL	ORPHA:247262
HP:0009832	Abnormal distal phalanx morphology of finger	57020	VPS35L	OMIM:619135
HP:0009832	Abnormal distal phalanx morphology of finger	2972	BRF1	OMIM:616202
HP:0009832	Abnormal distal phalanx morphology of finger	29929	ALG6	ORPHA:79320
HP:0009832	Abnormal distal phalanx morphology of finger	2737	GLI3	OMIM:146510
HP:0009832	Abnormal distal phalanx morphology of finger	5447	POR	ORPHA:95699
HP:0009832	Abnormal distal phalanx morphology of finger	6197	RPS6KA3	OMIM:303600
HP:0009832	Abnormal distal phalanx morphology of finger	3376	IARS1	ORPHA:541423
HP:0009832	Abnormal distal phalanx morphology of finger	79068	FTO	OMIM:612938
HP:0009832	Abnormal distal phalanx morphology of finger	1075	CTSC	OMIM:245010
HP:0009832	Abnormal distal phalanx morphology of finger	7021	TFAP2B	OMIM:169100
HP:0009832	Abnormal distal phalanx morphology of finger	50814	NSDHL	OMIM:308050
HP:0009832	Abnormal distal phalanx morphology of finger	55012	PPP2R3C	OMIM:618419
HP:0009832	Abnormal distal phalanx morphology of finger	374654	KIF7	OMIM:200990
HP:0009832	Abnormal distal phalanx morphology of finger	5053	PAH	ORPHA:2209
HP:0009832	Abnormal distal phalanx morphology of finger	124583	CANT1	OMIM:251450
HP:0009832	Abnormal distal phalanx morphology of finger	2778	GNAS	ORPHA:79443
HP:0009832	Abnormal distal phalanx morphology of finger	2778	GNAS	ORPHA:79444
HP:0009832	Abnormal distal phalanx morphology of finger	2263	FGFR2	OMIM:101200
HP:0009832	Abnormal distal phalanx morphology of finger	57167	SALL4	ORPHA:959
HP:0009832	Abnormal distal phalanx morphology of finger	5293	PIK3CD	ORPHA:221139
HP:0009832	Abnormal distal phalanx morphology of finger	90417	KNSTRN	ORPHA:221139
HP:0009832	Abnormal distal phalanx morphology of finger	5727	PTCH1	OMIM:109400
HP:0009832	Abnormal distal phalanx morphology of finger	10262	SF3B4	OMIM:154400
HP:0009832	Abnormal distal phalanx morphology of finger	9898	UBAP2L	OMIM:620494
HP:0009832	Abnormal distal phalanx morphology of finger	100151683	RNU4ATAC	ORPHA:2636
HP:0009832	Abnormal distal phalanx morphology of finger	22930	RAB3GAP1	ORPHA:1387
HP:0009832	Abnormal distal phalanx morphology of finger	25782	RAB3GAP2	ORPHA:1387
HP:0009832	Abnormal distal phalanx morphology of finger	9555	MACROH2A1	ORPHA:1275
HP:0009832	Abnormal distal phalanx morphology of finger	5307	PITX1	ORPHA:1275
HP:0009832	Abnormal distal phalanx morphology of finger	6023	RMRP	ORPHA:175
HP:0009832	Abnormal distal phalanx morphology of finger	388015	RTL1	ORPHA:96334
HP:0009832	Abnormal distal phalanx morphology of finger	8788	DLK1	ORPHA:96334
HP:0009832	Abnormal distal phalanx morphology of finger	55384	MEG3	ORPHA:96334
HP:0009832	Abnormal distal phalanx morphology of finger	9896	FIG4	OMIM:216340
HP:0009832	Abnormal distal phalanx morphology of finger	4920	ROR2	OMIM:113000
HP:0009832	Abnormal distal phalanx morphology of finger	9949	AMMECR1	OMIM:300990
HP:0009832	Abnormal distal phalanx morphology of finger	9653	HS2ST1	OMIM:619194
HP:0009832	Abnormal distal phalanx morphology of finger	2239	GPC4	OMIM:301026
HP:0009832	Abnormal distal phalanx morphology of finger	2239	GPC4	ORPHA:2662
HP:0009832	Abnormal distal phalanx morphology of finger	3835	KIF22	OMIM:603546
HP:0009832	Abnormal distal phalanx morphology of finger	80204	FBXO11	OMIM:618089
HP:0009832	Abnormal distal phalanx morphology of finger	2033	EP300	OMIM:180849
HP:0009832	Abnormal distal phalanx morphology of finger	2033	EP300	ORPHA:353284
HP:0009832	Abnormal distal phalanx morphology of finger	1387	CREBBP	OMIM:180849
HP:0009832	Abnormal distal phalanx morphology of finger	1387	CREBBP	ORPHA:353277
HP:0009832	Abnormal distal phalanx morphology of finger	1387	CREBBP	ORPHA:353281
HP:0009832	Abnormal distal phalanx morphology of finger	126792	B3GALT6	OMIM:609465
HP:0009832	Abnormal distal phalanx morphology of finger	126792	B3GALT6	OMIM:271640
HP:0009832	Abnormal distal phalanx morphology of finger	2317	FLNB	ORPHA:503
HP:0009832	Abnormal distal phalanx morphology of finger	55209	SETD5	ORPHA:404440
HP:0009832	Abnormal distal phalanx morphology of finger	55209	SETD5	OMIM:615761
HP:0009832	Abnormal distal phalanx morphology of finger	57459	GATAD2B	ORPHA:363686
HP:0009832	Abnormal distal phalanx morphology of finger	6595	SMARCA2	OMIM:601358
HP:0009832	Abnormal distal phalanx morphology of finger	6595	SMARCA2	ORPHA:3051
HP:0009832	Abnormal distal phalanx morphology of finger	633	BGN	OMIM:300989
HP:0009832	Abnormal distal phalanx morphology of finger	23404	EXOSC2	OMIM:617763
HP:0009832	Abnormal distal phalanx morphology of finger	57728	WDR19	OMIM:614378
HP:0009832	Abnormal distal phalanx morphology of finger	2316	FLNA	OMIM:311300
HP:0009832	Abnormal distal phalanx morphology of finger	79971	WLS	OMIM:619648
HP:0009832	Abnormal distal phalanx morphology of finger	4038	LRP4	ORPHA:3152
HP:0009832	Abnormal distal phalanx morphology of finger	50964	SOST	ORPHA:3152
HP:0009832	Abnormal distal phalanx morphology of finger	1513	CTSK	ORPHA:763
HP:0009832	Abnormal distal phalanx morphology of finger	1513	CTSK	OMIM:265800
HP:0009832	Abnormal distal phalanx morphology of finger	4000	LMNA	ORPHA:740
HP:0009832	Abnormal distal phalanx morphology of finger	4000	LMNA	OMIM:248370
HP:0009832	Abnormal distal phalanx morphology of finger	4000	LMNA	ORPHA:90153
HP:0009832	Abnormal distal phalanx morphology of finger	10269	ZMPSTE24	ORPHA:740
HP:0009832	Abnormal distal phalanx morphology of finger	10269	ZMPSTE24	OMIM:608612
HP:0009832	Abnormal distal phalanx morphology of finger	10269	ZMPSTE24	OMIM:275210
HP:0009832	Abnormal distal phalanx morphology of finger	10269	ZMPSTE24	ORPHA:90154
HP:0009832	Abnormal distal phalanx morphology of finger	8815	BANF1	OMIM:614008
HP:0009832	Abnormal distal phalanx morphology of finger	5159	PDGFRB	OMIM:601812
HP:0009832	Abnormal distal phalanx morphology of finger	4921	DDR2	OMIM:271665
HP:0009832	Abnormal distal phalanx morphology of finger	26229	B3GAT3	OMIM:245600
HP:0009832	Abnormal distal phalanx morphology of finger	55697	VAC14	ORPHA:3472
HP:0009832	Abnormal distal phalanx morphology of finger	1280	COL2A1	OMIM:271700
HP:0009832	Abnormal distal phalanx morphology of finger	1280	COL2A1	ORPHA:93315
HP:0009832	Abnormal distal phalanx morphology of finger	1280	COL2A1	ORPHA:85166
HP:0009832	Abnormal distal phalanx morphology of finger	9488	PIGB	OMIM:618580
HP:0009832	Abnormal distal phalanx morphology of finger	10617	STAMBP	OMIM:614261
HP:0009832	Abnormal distal phalanx morphology of finger	2335	FN1	ORPHA:93315
HP:0009832	Abnormal distal phalanx morphology of finger	23556	PIGN	ORPHA:2059
HP:0009832	Abnormal distal phalanx morphology of finger	23556	PIGN	OMIM:614080
HP:0009832	Abnormal distal phalanx morphology of finger	10973	ASCC3	OMIM:620700
HP:0009832	Abnormal distal phalanx morphology of finger	90459	ERI1	OMIM:620662
HP:0009832	Abnormal distal phalanx morphology of finger	59341	TRPV4	ORPHA:93314
HP:0009832	Abnormal distal phalanx morphology of finger	59341	TRPV4	OMIM:606835
HP:0009832	Abnormal distal phalanx morphology of finger	59341	TRPV4	ORPHA:85169
HP:0009832	Abnormal distal phalanx morphology of finger	51412	ACTL6B	OMIM:618470
HP:0009832	Abnormal distal phalanx morphology of finger	57465	TBC1D24	OMIM:220500
HP:0009832	Abnormal distal phalanx morphology of finger	57465	TBC1D24	ORPHA:79500
HP:0009832	Abnormal distal phalanx morphology of finger	613	BCR	ORPHA:261330
HP:0009832	Abnormal distal phalanx morphology of finger	1399	CRKL	ORPHA:261330
HP:0009832	Abnormal distal phalanx morphology of finger	5594	MAPK1	ORPHA:261330
HP:0009832	Abnormal distal phalanx morphology of finger	55784	MCTP2	ORPHA:1596
HP:0009832	Abnormal distal phalanx morphology of finger	5744	PTHLH	ORPHA:93387
HP:0009832	Abnormal distal phalanx morphology of finger	3239	HOXD13	ORPHA:93387
HP:0009832	Abnormal distal phalanx morphology of finger	3239	HOXD13	ORPHA:93406
HP:0009832	Abnormal distal phalanx morphology of finger	3239	HOXD13	OMIM:186300
HP:0009832	Abnormal distal phalanx morphology of finger	3764	KCNJ8	ORPHA:1517
HP:0009832	Abnormal distal phalanx morphology of finger	10060	ABCC9	ORPHA:1517
HP:0009832	Abnormal distal phalanx morphology of finger	57539	WDR35	ORPHA:1515
HP:0009832	Abnormal distal phalanx morphology of finger	57539	WDR35	OMIM:614091
HP:0009832	Abnormal distal phalanx morphology of finger	112752	IFT43	ORPHA:1515
HP:0009832	Abnormal distal phalanx morphology of finger	51098	IFT52	ORPHA:1515
HP:0009832	Abnormal distal phalanx morphology of finger	51098	IFT52	OMIM:617102
HP:0009832	Abnormal distal phalanx morphology of finger	55764	IFT122	ORPHA:1515
HP:0009832	Abnormal distal phalanx morphology of finger	55764	IFT122	OMIM:218330
HP:0009832	Abnormal distal phalanx morphology of finger	6926	TBX3	ORPHA:3138
HP:0009832	Abnormal distal phalanx morphology of finger	55650	PIGV	OMIM:239300
HP:0009832	Abnormal distal phalanx morphology of finger	4784	NFIX	OMIM:602535
HP:0009832	Abnormal distal phalanx morphology of finger	24140	FTSJ1	OMIM:309549
HP:0009832	Abnormal distal phalanx morphology of finger	54496	PRMT7	OMIM:617157
HP:0009832	Abnormal distal phalanx morphology of finger	3756	KCNH1	OMIM:135500
HP:0009832	Abnormal distal phalanx morphology of finger	3756	KCNH1	ORPHA:420561
HP:0009832	Abnormal distal phalanx morphology of finger	3756	KCNH1	OMIM:611816
HP:0009832	Abnormal distal phalanx morphology of finger	9469	CHST3	OMIM:143095
HP:0009832	Abnormal distal phalanx morphology of finger	64359	NXN	ORPHA:1507
HP:0009832	Abnormal distal phalanx morphology of finger	8289	ARID1A	OMIM:614607
HP:0009832	Abnormal distal phalanx morphology of finger	3209	HOXA13	ORPHA:2438
HP:0009832	Abnormal distal phalanx morphology of finger	5566	PRKACA	ORPHA:289
HP:0009832	Abnormal distal phalanx morphology of finger	5567	PRKACB	ORPHA:289
HP:0009832	Abnormal distal phalanx morphology of finger	2735	GLI1	ORPHA:289
HP:0009832	Abnormal distal phalanx morphology of finger	2121	EVC	ORPHA:289
HP:0009832	Abnormal distal phalanx morphology of finger	51626	DYNC2LI1	ORPHA:289
HP:0009832	Abnormal distal phalanx morphology of finger	132884	EVC2	ORPHA:289
HP:0009832	Abnormal distal phalanx morphology of finger	2475	MTOR	OMIM:616638
HP:0009832	Abnormal distal phalanx morphology of finger	5116	PCNT	OMIM:210720
HP:0009832	Abnormal distal phalanx morphology of finger	9419	CRIPT	OMIM:615789
HP:0009832	Abnormal distal phalanx morphology of finger	4853	NOTCH2	ORPHA:955
HP:0009832	Abnormal distal phalanx morphology of finger	26040	SETBP1	OMIM:269150
HP:0009832	Abnormal distal phalanx morphology of finger	26040	SETBP1	ORPHA:798
HP:0009832	Abnormal distal phalanx morphology of finger	54	ACP5	ORPHA:1855
HP:0009832	Abnormal distal phalanx morphology of finger	1300	COL10A1	OMIM:156500
HP:0009832	Abnormal distal phalanx morphology of finger	5281	PIGF	OMIM:619356
HP:0009832	Abnormal distal phalanx morphology of finger	94005	PIGS	OMIM:618143
HP:0009832	Abnormal distal phalanx morphology of finger	2677	GGCX	OMIM:277450
HP:0009832	Abnormal distal phalanx morphology of finger	10283	CWC27	OMIM:250410
HP:0009832	Abnormal distal phalanx morphology of finger	415	ARSL	ORPHA:79345
HP:0009832	Abnormal distal phalanx morphology of finger	415	ARSL	OMIM:302950
HP:0009832	Abnormal distal phalanx morphology of finger	526	ATP6V1B2	ORPHA:79500
HP:0009832	Abnormal distal phalanx morphology of finger	1311	COMP	OMIM:177170
HP:0009832	Abnormal distal phalanx morphology of finger	25839	COG4	OMIM:618150
HP:0009832	Abnormal distal phalanx morphology of finger	26137	ZBTB20	OMIM:259050
HP:0009832	Abnormal distal phalanx morphology of finger	60401	EDA2R	ORPHA:181
HP:0009832	Abnormal distal phalanx morphology of finger	1896	EDA	ORPHA:181
HP:0009832	Abnormal distal phalanx morphology of finger	4256	MGP	ORPHA:85202
HP:0009832	Abnormal distal phalanx morphology of finger	4256	MGP	OMIM:245150
HP:0009832	Abnormal distal phalanx morphology of finger	28952	CCDC22	OMIM:300963
HP:0009832	Abnormal distal phalanx morphology of finger	182	JAG1	OMIM:118450
HP:0009832	Abnormal distal phalanx morphology of finger	7291	TWIST1	OMIM:617746
HP:0009832	Abnormal distal phalanx morphology of finger	6605	SMARCE1	OMIM:616938
HP:0009832	Abnormal distal phalanx morphology of finger	3516	RBPJ	ORPHA:974
HP:0009832	Abnormal distal phalanx morphology of finger	3516	RBPJ	OMIM:614814
HP:0009832	Abnormal distal phalanx morphology of finger	4851	NOTCH1	ORPHA:974
HP:0009832	Abnormal distal phalanx morphology of finger	57514	ARHGAP31	ORPHA:974
HP:0009832	Abnormal distal phalanx morphology of finger	285203	EOGT	ORPHA:974
HP:0009832	Abnormal distal phalanx morphology of finger	54567	DLL4	ORPHA:974
HP:0009832	Abnormal distal phalanx morphology of finger	50515	CHST11	OMIM:618167
HP:0009832	Abnormal distal phalanx morphology of finger	8242	KDM5C	OMIM:300534
HP:0009832	Abnormal distal phalanx morphology of finger	6885	MAP3K7	ORPHA:1826
HP:0009832	Abnormal distal phalanx morphology of finger	1186	CLCN7	ORPHA:53
HP:0009832	Abnormal distal phalanx morphology of finger	2703	GJA8	OMIM:612474
HP:0009832	Abnormal distal phalanx morphology of finger	2702	GJA5	OMIM:612474
HP:0009832	Abnormal distal phalanx morphology of finger	2719	GPC3	OMIM:312870
HP:0009832	Abnormal distal phalanx morphology of finger	6664	SOX11	OMIM:615866
HP:0009832	Abnormal distal phalanx morphology of finger	55081	IFT57	OMIM:617927
HP:0009832	Abnormal distal phalanx morphology of finger	25886	POC1A	OMIM:614813
HP:0009832	Abnormal distal phalanx morphology of finger	865	CBFB	OMIM:620099
HP:0009832	Abnormal distal phalanx morphology of finger	7227	TRPS1	ORPHA:77258
HP:0009832	Abnormal distal phalanx morphology of finger	7474	WNT5A	OMIM:180700
HP:0009832	Abnormal distal phalanx morphology of finger	1855	DVL1	OMIM:180700
HP:0009832	Abnormal distal phalanx morphology of finger	1832	DSP	OMIM:609638
HP:0009832	Abnormal distal phalanx morphology of finger	259232	NALCN	ORPHA:371364
HP:0009832	Abnormal distal phalanx morphology of finger	285175	UNC80	ORPHA:371364
HP:0009832	Abnormal distal phalanx morphology of finger	170689	ADAMTS15	OMIM:620545
HP:0009832	Abnormal distal phalanx morphology of finger	6711	SPTBN1	OMIM:619475
HP:0009832	Abnormal distal phalanx morphology of finger	23592	LEMD3	ORPHA:1879
HP:0009832	Abnormal distal phalanx morphology of finger	28957	MRPS28	OMIM:618958
HP:0009832	Abnormal distal phalanx morphology of finger	10847	SRCAP	OMIM:136140
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	1280	COL2A1	OMIM:619248
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	132884	EVC2	OMIM:225500
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	2121	EVC	OMIM:225500
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	4256	MGP	OMIM:245150
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	3549	IHH	OMIM:112500
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	8200	GDF5	ORPHA:93384
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	8200	GDF5	OMIM:113100
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	658	BMPR1B	ORPHA:93384
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	3756	KCNH1	OMIM:611816
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	59341	TRPV4	ORPHA:93314
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	54808	DYM	OMIM:223800
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	4882	NPR2	OMIM:602875
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	56992	KIF15	ORPHA:261323
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	26160	IFT172	OMIM:615630
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	4750	NEK1	ORPHA:2751
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	2131	EXT1	ORPHA:502
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	5885	RAD21	ORPHA:502
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	7227	TRPS1	ORPHA:502
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	25839	COG4	OMIM:618150
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	25839	COG4	ORPHA:85172
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	10847	SRCAP	OMIM:136140
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	9742	IFT140	OMIM:617781
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	9742	IFT140	OMIM:266920
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	633	BGN	OMIM:300106
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	860	RUNX2	OMIM:119600
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	9321	TRIP11	OMIM:184260
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	375056	MIA3	OMIM:619269
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	9451	EIF2AK3	OMIM:226980
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	51098	IFT52	OMIM:617102
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	2261	FGFR3	OMIM:602849
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	2316	FLNA	OMIM:309350
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	2316	FLNA	ORPHA:2484
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	545	ATR	OMIM:210600
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	406932	MIR140	OMIM:618618
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	5573	PRKAR1A	OMIM:101800
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	6023	RMRP	OMIM:250460
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	2879	GPX4	OMIM:250220
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	6399	TRAPPC2	ORPHA:93284
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	2074	ERCC6	OMIM:133540
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	1161	ERCC8	OMIM:216400
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	4796	TONSL	ORPHA:93357
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	1311	COMP	OMIM:177170
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	28957	MRPS28	OMIM:618958
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	415	ARSL	ORPHA:79345
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	4883	NPR3	OMIM:619543
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	51715	RAB23	OMIM:201000
HP:0010660	Abnormal hand bone ossification	5745	PTH1R	OMIM:600002
HP:0010660	Abnormal hand bone ossification	9361	LONP1	OMIM:600373
HP:0010660	Abnormal hand bone ossification	8720	MBTPS1	OMIM:618392
HP:0010660	Abnormal hand bone ossification	59341	TRPV4	OMIM:184252
HP:0010660	Abnormal hand bone ossification	3549	IHH	OMIM:607778
HP:0010660	Abnormal hand bone ossification	633	BGN	OMIM:300106
HP:0010660	Abnormal hand bone ossification	23233	EXOC6B	OMIM:618395
HP:0010660	Abnormal hand bone ossification	2137	EXTL3	OMIM:617425
HP:0010660	Abnormal hand bone ossification	55325	UFSP2	OMIM:617974
HP:0010660	Abnormal hand bone ossification	6023	RMRP	OMIM:607095
HP:0010660	Abnormal hand bone ossification	3209	HOXA13	OMIM:140000
HP:0010660	Abnormal hand bone ossification	1280	COL2A1	ORPHA:93346
HP:0010660	Abnormal hand bone ossification	865	CBFB	OMIM:620099
HP:0010660	Abnormal hand bone ossification	4796	TONSL	OMIM:271510
HP:0010660	Abnormal hand bone ossification	4148	MATN3	OMIM:607078
HP:0010660	Abnormal hand bone ossification	55650	PIGV	OMIM:239300
HP:0010660	Abnormal hand bone ossification	84068	SLC10A7	OMIM:618363
HP:0010660	Abnormal hand bone ossification	29072	SETD2	OMIM:616831
HP:0010660	Abnormal hand bone ossification	5144	PDE4D	OMIM:614613
HP:0010660	Abnormal hand bone ossification	54187	NANS	OMIM:610442
HP:0010660	Abnormal hand bone ossification	64131	XYLT1	OMIM:615777
HP:0010660	Abnormal hand bone ossification	347734	SLC35B2	OMIM:620269
HP:0010660	Abnormal hand bone ossification	126792	B3GALT6	OMIM:615349
HP:0010660	Abnormal hand bone ossification	126792	B3GALT6	OMIM:271640
HP:0010660	Abnormal hand bone ossification	23169	SLC35D1	OMIM:269250
HP:0010660	Abnormal hand bone ossification	124583	CANT1	OMIM:617719
HP:0010660	Abnormal hand bone ossification	124583	CANT1	OMIM:251450
HP:0010660	Abnormal hand bone ossification	23592	LEMD3	ORPHA:166119
HP:0010660	Abnormal hand bone ossification	10682	EBP	OMIM:302960
HP:0010660	Abnormal hand bone ossification	10568	SLC34A2	ORPHA:60025
HP:0010660	Abnormal hand bone ossification	5727	PTCH1	OMIM:109400
HP:0010660	Abnormal hand bone ossification	9469	CHST3	OMIM:143095
HP:0010660	Abnormal hand bone ossification	2317	FLNB	OMIM:150250
HP:0010660	Abnormal hand bone ossification	2719	GPC3	OMIM:312870
HP:0010660	Abnormal hand bone ossification	2239	GPC4	OMIM:312870
HP:0010660	Abnormal hand bone ossification	4921	DDR2	OMIM:271665
HP:0010660	Abnormal hand bone ossification	5167	ENPP1	ORPHA:51608
HP:0010660	Abnormal hand bone ossification	368	ABCC6	ORPHA:51608
HP:0010660	Abnormal hand bone ossification	8200	GDF5	ORPHA:93384
HP:0010660	Abnormal hand bone ossification	658	BMPR1B	ORPHA:93384
HP:0010660	Abnormal hand bone ossification	415	ARSL	ORPHA:79345
HP:0010660	Abnormal hand bone ossification	9321	TRIP11	OMIM:200600
HP:0010660	Abnormal hand bone ossification	2316	FLNA	OMIM:300244
HP:0005922	Abnormal hand morphology	9851	KIAA0753	ORPHA:475
HP:0005922	Abnormal hand morphology	9851	KIAA0753	ORPHA:2754
HP:0005922	Abnormal hand morphology	5147	PDE6D	ORPHA:475
HP:0005922	Abnormal hand morphology	5147	PDE6D	ORPHA:2754
HP:0005922	Abnormal hand morphology	79600	TCTN1	ORPHA:475
HP:0005922	Abnormal hand morphology	51684	SUFU	ORPHA:475
HP:0005922	Abnormal hand morphology	54806	AHI1	ORPHA:475
HP:0005922	Abnormal hand morphology	54806	AHI1	ORPHA:220493
HP:0005922	Abnormal hand morphology	153241	CEP120	ORPHA:475
HP:0005922	Abnormal hand morphology	153241	CEP120	ORPHA:220493
HP:0005922	Abnormal hand morphology	65250	CPLANE1	ORPHA:475
HP:0005922	Abnormal hand morphology	65250	CPLANE1	ORPHA:2754
HP:0005922	Abnormal hand morphology	91147	TMEM67	ORPHA:475
HP:0005922	Abnormal hand morphology	200894	ARL13B	ORPHA:475
HP:0005922	Abnormal hand morphology	9731	CEP104	ORPHA:475
HP:0005922	Abnormal hand morphology	219844	HYLS1	ORPHA:475
HP:0005922	Abnormal hand morphology	23247	KATNIP	ORPHA:475
HP:0005922	Abnormal hand morphology	219854	TMEM218	ORPHA:475
HP:0005922	Abnormal hand morphology	54903	MKS1	ORPHA:475
HP:0005922	Abnormal hand morphology	54903	MKS1	ORPHA:220493
HP:0005922	Abnormal hand morphology	95681	CEP41	ORPHA:475
HP:0005922	Abnormal hand morphology	95681	CEP41	ORPHA:220493
HP:0005922	Abnormal hand morphology	56623	INPP5E	ORPHA:475
HP:0005922	Abnormal hand morphology	56623	INPP5E	ORPHA:220493
HP:0005922	Abnormal hand morphology	79867	TCTN2	ORPHA:475
HP:0005922	Abnormal hand morphology	80776	B9D2	ORPHA:475
HP:0005922	Abnormal hand morphology	10464	PIBF1	ORPHA:475
HP:0005922	Abnormal hand morphology	80210	ARMC9	ORPHA:475
HP:0005922	Abnormal hand morphology	23116	TOGARAM1	ORPHA:475
HP:0005922	Abnormal hand morphology	25776	CBY1	ORPHA:475
HP:0005922	Abnormal hand morphology	27077	B9D1	ORPHA:475
HP:0005922	Abnormal hand morphology	403	ARL3	ORPHA:475
HP:0005922	Abnormal hand morphology	80173	IFT74	ORPHA:475
HP:0005922	Abnormal hand morphology	65062	TMEM237	ORPHA:475
HP:0005922	Abnormal hand morphology	65062	TMEM237	ORPHA:220497
HP:0005922	Abnormal hand morphology	65062	TMEM237	ORPHA:2318
HP:0005922	Abnormal hand morphology	10682	EBP	ORPHA:401973
HP:0005922	Abnormal hand morphology	5626	PROP1	ORPHA:226307
HP:0005922	Abnormal hand morphology	89884	LHX4	ORPHA:226307
HP:0005922	Abnormal hand morphology	8022	LHX3	ORPHA:226307
HP:0005922	Abnormal hand morphology	5449	POU1F1	ORPHA:226307
HP:0005922	Abnormal hand morphology	8820	HESX1	ORPHA:226307
HP:0005922	Abnormal hand morphology	1947	EFNB1	ORPHA:1520
HP:0005922	Abnormal hand morphology	5290	PIK3CA	ORPHA:60040
HP:0005922	Abnormal hand morphology	10908	PNPLA6	ORPHA:2377
HP:0005922	Abnormal hand morphology	51	ACOX1	ORPHA:2971
HP:0005922	Abnormal hand morphology	7547	ZIC3	OMIM:314390
HP:0005922	Abnormal hand morphology	23322	RPGRIP1L	ORPHA:220497
HP:0005922	Abnormal hand morphology	4867	NPHP1	ORPHA:220497
HP:0005922	Abnormal hand morphology	641	BLM	OMIM:210900
HP:0005922	Abnormal hand morphology	2314	FLII	ORPHA:819
HP:0005922	Abnormal hand morphology	23096	IQSEC2	ORPHA:819
HP:0005922	Abnormal hand morphology	10522	DEAF1	ORPHA:819
HP:0005922	Abnormal hand morphology	26154	ABCA12	ORPHA:457
HP:0005922	Abnormal hand morphology	8241	RBM10	ORPHA:2886
HP:0005922	Abnormal hand morphology	7021	TFAP2B	ORPHA:46627
HP:0005922	Abnormal hand morphology	10225	CD96	ORPHA:1308
HP:0005922	Abnormal hand morphology	1312	COMT	ORPHA:567
HP:0005922	Abnormal hand morphology	221037	JMJD1C	ORPHA:567
HP:0005922	Abnormal hand morphology	2812	GP1BB	ORPHA:567
HP:0005922	Abnormal hand morphology	6239	RREB1	ORPHA:567
HP:0005922	Abnormal hand morphology	6899	TBX1	ORPHA:567
HP:0005922	Abnormal hand morphology	7290	HIRA	ORPHA:567
HP:0005922	Abnormal hand morphology	9632	SEC24C	ORPHA:567
HP:0005922	Abnormal hand morphology	7353	UFD1	ORPHA:567
HP:0005922	Abnormal hand morphology	421	ARVCF	ORPHA:567
HP:0005922	Abnormal hand morphology	79583	TMEM231	ORPHA:2318
HP:0005922	Abnormal hand morphology	79583	TMEM231	ORPHA:2754
HP:0005922	Abnormal hand morphology	51524	TMEM138	ORPHA:2318
HP:0005922	Abnormal hand morphology	23090	ZNF423	ORPHA:2318
HP:0005922	Abnormal hand morphology	80184	CEP290	ORPHA:2318
HP:0005922	Abnormal hand morphology	51259	TMEM216	ORPHA:2318
HP:0005922	Abnormal hand morphology	51259	TMEM216	ORPHA:2754
HP:0005922	Abnormal hand morphology	57545	CC2D2A	ORPHA:2318
HP:0005922	Abnormal hand morphology	10210	TOPORS	ORPHA:2754
HP:0005922	Abnormal hand morphology	317662	FAM149B1	ORPHA:2754
HP:0005922	Abnormal hand morphology	374654	KIF7	ORPHA:2754
HP:0005922	Abnormal hand morphology	9897	WASHC5	ORPHA:7
HP:0005922	Abnormal hand morphology	28952	CCDC22	ORPHA:7
HP:0005922	Abnormal hand morphology	57020	VPS35L	ORPHA:7
HP:0005922	Abnormal hand morphology	56896	DPYSL5	ORPHA:7
HP:0005922	Abnormal hand morphology	25970	SH2B1	ORPHA:261197
HP:0005922	Abnormal hand morphology	5728	PTEN	ORPHA:65285
HP:0005922	Abnormal hand morphology	55636	CHD7	OMIM:214800
HP:0005922	Abnormal hand morphology	2313	FLI1	ORPHA:2308
HP:0005922	Abnormal hand morphology	6309	SC5D	ORPHA:46059
HP:0005922	Abnormal hand morphology	6309	SC5D	OMIM:607330
HP:0005922	Abnormal hand morphology	894	CCND2	ORPHA:83473
HP:0005922	Abnormal hand morphology	894	CCND2	OMIM:615938
HP:0005922	Abnormal hand morphology	5296	PIK3R2	ORPHA:83473
HP:0005922	Abnormal hand morphology	10000	AKT3	ORPHA:83473
HP:0005922	Abnormal hand morphology	10000	AKT3	OMIM:615937
HP:0005922	Abnormal hand morphology	54585	LZTFL1	OMIM:615994
HP:0005922	Abnormal hand morphology	83479	DDX59	OMIM:174300
HP:0005922	Abnormal hand morphology	83479	DDX59	ORPHA:2919
HP:0005922	Abnormal hand morphology	4149	MAX	OMIM:620712
HP:0005922	Abnormal hand morphology	83871	RAB34	OMIM:620718
HP:0005922	Abnormal hand morphology	51057	WDPCP	OMIM:217085
HP:0005922	Abnormal hand morphology	84314	TMEM107	ORPHA:564
HP:0005922	Abnormal hand morphology	84314	TMEM107	OMIM:617563
HP:0005922	Abnormal hand morphology	57096	RPGRIP1	ORPHA:564
HP:0005922	Abnormal hand morphology	79770	TXNDC15	ORPHA:564
HP:0005922	Abnormal hand morphology	79770	TXNDC15	OMIM:619879
HP:0005922	Abnormal hand morphology	285600	KIAA0825	OMIM:618498
HP:0005922	Abnormal hand morphology	26005	C2CD3	OMIM:615948
HP:0005922	Abnormal hand morphology	26005	C2CD3	ORPHA:434179
HP:0005922	Abnormal hand morphology	57728	WDR19	ORPHA:474
HP:0005922	Abnormal hand morphology	79809	TTC21B	ORPHA:474
HP:0005922	Abnormal hand morphology	79005	SCNM1	OMIM:620107
HP:0005922	Abnormal hand morphology	54499	TMCO1	OMIM:213980
HP:0005922	Abnormal hand morphology	2736	GLI2	OMIM:610829
HP:0005922	Abnormal hand morphology	51360	MBTPS2	OMIM:308205
HP:0005922	Abnormal hand morphology	51360	MBTPS2	ORPHA:85284
HP:0005922	Abnormal hand morphology	9373	PLAA	ORPHA:521426
HP:0005922	Abnormal hand morphology	23288	IQCE	OMIM:617642
HP:0005922	Abnormal hand morphology	583	BBS2	OMIM:615981
HP:0005922	Abnormal hand morphology	137392	CIBAR1	OMIM:618219
HP:0005922	Abnormal hand morphology	7700	ZNF141	OMIM:615226
HP:0005922	Abnormal hand morphology	7046	TGFBR1	OMIM:609192
HP:0005922	Abnormal hand morphology	166379	BBS12	OMIM:615989
HP:0005922	Abnormal hand morphology	27241	BBS9	OMIM:615986
HP:0005922	Abnormal hand morphology	157657	CFAP418	OMIM:617406
HP:0005922	Abnormal hand morphology	255758	DYNLT2B	OMIM:617405
HP:0005922	Abnormal hand morphology	64840	PORCN	OMIM:305600
HP:0005922	Abnormal hand morphology	64840	PORCN	ORPHA:2092
HP:0005922	Abnormal hand morphology	5376	PMP22	OMIM:118300
HP:0005922	Abnormal hand morphology	5376	PMP22	OMIM:118220
HP:0005922	Abnormal hand morphology	5376	PMP22	ORPHA:90658
HP:0005922	Abnormal hand morphology	5376	PMP22	OMIM:145900
HP:0005922	Abnormal hand morphology	6910	TBX5	ORPHA:392
HP:0005922	Abnormal hand morphology	3094	HINT1	ORPHA:324442
HP:0005922	Abnormal hand morphology	22880	MORC2	OMIM:616688
HP:0005922	Abnormal hand morphology	1001	CDH3	OMIM:225280
HP:0005922	Abnormal hand morphology	9231	DLG5	OMIM:620703
HP:0005922	Abnormal hand morphology	8626	TP63	OMIM:604292
HP:0005922	Abnormal hand morphology	8626	TP63	ORPHA:2440
HP:0005922	Abnormal hand morphology	8626	TP63	OMIM:103285
HP:0005922	Abnormal hand morphology	8626	TP63	OMIM:603543
HP:0005922	Abnormal hand morphology	8626	TP63	OMIM:605289
HP:0005922	Abnormal hand morphology	8626	TP63	ORPHA:1896
HP:0005922	Abnormal hand morphology	4047	LSS	ORPHA:2850
HP:0005922	Abnormal hand morphology	197	AHSG	ORPHA:2850
HP:0005922	Abnormal hand morphology	3694	ITGB6	ORPHA:2850
HP:0005922	Abnormal hand morphology	79581	SLC52A2	OMIM:614707
HP:0005922	Abnormal hand morphology	411	ARSB	OMIM:253200
HP:0005922	Abnormal hand morphology	9150	CTDP1	OMIM:604168
HP:0005922	Abnormal hand morphology	54332	GDAP1	OMIM:607831
HP:0005922	Abnormal hand morphology	54332	GDAP1	ORPHA:101097
HP:0005922	Abnormal hand morphology	56704	JPH1	OMIM:607831
HP:0005922	Abnormal hand morphology	51776	MAP3K20	OMIM:616890
HP:0005922	Abnormal hand morphology	1750	DLX6	ORPHA:2440
HP:0005922	Abnormal hand morphology	7979	SEM1	ORPHA:2440
HP:0005922	Abnormal hand morphology	8945	BTRC	ORPHA:2440
HP:0005922	Abnormal hand morphology	58513	EPS15L1	ORPHA:2440
HP:0005922	Abnormal hand morphology	6468	FBXW4	ORPHA:2440
HP:0005922	Abnormal hand morphology	7480	WNT10B	ORPHA:2440
HP:0005922	Abnormal hand morphology	7480	WNT10B	OMIM:225300
HP:0005922	Abnormal hand morphology	1749	DLX5	ORPHA:2440
HP:0005922	Abnormal hand morphology	1749	DLX5	OMIM:183600
HP:0005922	Abnormal hand morphology	1749	DLX5	OMIM:220600
HP:0005922	Abnormal hand morphology	1717	DHCR7	ORPHA:818
HP:0005922	Abnormal hand morphology	9968	MED12	OMIM:305450
HP:0005922	Abnormal hand morphology	81846	SBF2	OMIM:604563
HP:0005922	Abnormal hand morphology	79158	GNPTAB	OMIM:252500
HP:0005922	Abnormal hand morphology	3516	RBPJ	ORPHA:974
HP:0005922	Abnormal hand morphology	4851	NOTCH1	ORPHA:974
HP:0005922	Abnormal hand morphology	57514	ARHGAP31	ORPHA:974
HP:0005922	Abnormal hand morphology	57572	DOCK6	ORPHA:974
HP:0005922	Abnormal hand morphology	285203	EOGT	ORPHA:974
HP:0005922	Abnormal hand morphology	54567	DLL4	ORPHA:974
HP:0005922	Abnormal hand morphology	8888	MCM3AP	OMIM:618124
HP:0005922	Abnormal hand morphology	4359	MPZ	OMIM:118200
HP:0005922	Abnormal hand morphology	4359	MPZ	OMIM:145900
HP:0005922	Abnormal hand morphology	3423	IDS	OMIM:309900
HP:0005922	Abnormal hand morphology	3664	IRF6	ORPHA:1300
HP:0005922	Abnormal hand morphology	727857	BHLHA9	ORPHA:3329
HP:0005922	Abnormal hand morphology	2261	FGFR3	ORPHA:1860
HP:0005922	Abnormal hand morphology	374969	SVBP	OMIM:618569
HP:0005922	Abnormal hand morphology	3295	HSD17B4	OMIM:261515
HP:0005922	Abnormal hand morphology	7476	WNT7A	OMIM:276820
HP:0005922	Abnormal hand morphology	1509	CTSD	OMIM:610127
HP:0005922	Abnormal hand morphology	64359	NXN	ORPHA:1507
HP:0005922	Abnormal hand morphology	4920	ROR2	ORPHA:1507
HP:0005922	Abnormal hand morphology	26580	BSCL2	OMIM:270685
HP:0005922	Abnormal hand morphology	26580	BSCL2	ORPHA:100998
HP:0005922	Abnormal hand morphology	26123	TCTN3	ORPHA:2753
HP:0005922	Abnormal hand morphology	2260	FGFR1	ORPHA:2117
HP:0005922	Abnormal hand morphology	10397	NDRG1	ORPHA:99950
HP:0005922	Abnormal hand morphology	10815	CPLX1	ORPHA:280
HP:0005922	Abnormal hand morphology	10815	CPLX1	OMIM:194190
HP:0005922	Abnormal hand morphology	54872	PIGG	ORPHA:280
HP:0005922	Abnormal hand morphology	7469	NELFA	ORPHA:280
HP:0005922	Abnormal hand morphology	1487	CTBP1	ORPHA:280
HP:0005922	Abnormal hand morphology	1487	CTBP1	OMIM:194190
HP:0005922	Abnormal hand morphology	3954	LETM1	ORPHA:280
HP:0005922	Abnormal hand morphology	3954	LETM1	OMIM:194190
HP:0005922	Abnormal hand morphology	7468	NSD2	ORPHA:280
HP:0005922	Abnormal hand morphology	7468	NSD2	OMIM:194190
HP:0005922	Abnormal hand morphology	4747	NEFL	OMIM:617882
HP:0005922	Abnormal hand morphology	3178	HNRNPA1	OMIM:610099
HP:0005922	Abnormal hand morphology	53834	FGFRL1	OMIM:194190
HP:0005922	Abnormal hand morphology	1959	EGR2	OMIM:145900
HP:0005922	Abnormal hand morphology	57716	PRX	OMIM:145900
HP:0005922	Abnormal hand morphology	2737	GLI3	ORPHA:93322
HP:0005922	Abnormal hand morphology	6197	RPS6KA3	ORPHA:192
HP:0005922	Abnormal hand morphology	6197	RPS6KA3	ORPHA:276630
HP:0005922	Abnormal hand morphology	8925	HERC1	OMIM:617011
HP:0005922	Abnormal hand morphology	5447	POR	OMIM:201750
HP:0005922	Abnormal hand morphology	23512	SUZ12	OMIM:618786
HP:0005922	Abnormal hand morphology	23512	SUZ12	ORPHA:3447
HP:0005922	Abnormal hand morphology	9158	FIBP	ORPHA:500095
HP:0005922	Abnormal hand morphology	9158	FIBP	OMIM:617107
HP:0005922	Abnormal hand morphology	100151683	RNU4ATAC	OMIM:210710
HP:0005922	Abnormal hand morphology	100151683	RNU4ATAC	ORPHA:2636
HP:0005922	Abnormal hand morphology	3643	INSR	ORPHA:508
HP:0005922	Abnormal hand morphology	3643	INSR	OMIM:246200
HP:0005922	Abnormal hand morphology	5189	PEX1	ORPHA:3220
HP:0005922	Abnormal hand morphology	5190	PEX6	ORPHA:3220
HP:0005922	Abnormal hand morphology	85358	SHANK3	OMIM:606232
HP:0005922	Abnormal hand morphology	11128	POLR3A	OMIM:264090
HP:0005922	Abnormal hand morphology	64324	NSD1	ORPHA:821
HP:0005922	Abnormal hand morphology	64324	NSD1	OMIM:117550
HP:0005922	Abnormal hand morphology	64324	NSD1	ORPHA:3447
HP:0005922	Abnormal hand morphology	10297	APC2	ORPHA:821
HP:0005922	Abnormal hand morphology	55690	PACS1	OMIM:615009
HP:0005922	Abnormal hand morphology	4221	MEN1	ORPHA:99725
HP:0005922	Abnormal hand morphology	9049	AIP	ORPHA:99725
HP:0005922	Abnormal hand morphology	9049	AIP	ORPHA:963
HP:0005922	Abnormal hand morphology	8242	KDM5C	OMIM:300534
HP:0005922	Abnormal hand morphology	440	ASNS	OMIM:615574
HP:0005922	Abnormal hand morphology	9487	PIGL	OMIM:280000
HP:0005922	Abnormal hand morphology	23133	PHF8	ORPHA:85287
HP:0005922	Abnormal hand morphology	23133	PHF8	OMIM:300263
HP:0005922	Abnormal hand morphology	2146	EZH2	OMIM:277590
HP:0005922	Abnormal hand morphology	2146	EZH2	ORPHA:3447
HP:0005922	Abnormal hand morphology	5468	PPARG	ORPHA:528
HP:0005922	Abnormal hand morphology	10555	AGPAT2	ORPHA:528
HP:0005922	Abnormal hand morphology	10555	AGPAT2	OMIM:608594
HP:0005922	Abnormal hand morphology	284119	CAVIN1	ORPHA:528
HP:0005922	Abnormal hand morphology	2353	FOS	ORPHA:528
HP:0005922	Abnormal hand morphology	857	CAV1	ORPHA:528
HP:0005922	Abnormal hand morphology	83550	GPR101	ORPHA:963
HP:0005922	Abnormal hand morphology	6390	SDHB	OMIM:606764
HP:0005922	Abnormal hand morphology	6391	SDHC	OMIM:606764
HP:0005922	Abnormal hand morphology	3815	KIT	OMIM:606764
HP:0005922	Abnormal hand morphology	8726	EED	OMIM:617561
HP:0005922	Abnormal hand morphology	4763	NF1	ORPHA:363700
HP:0005922	Abnormal hand morphology	4763	NF1	ORPHA:97685
HP:0005922	Abnormal hand morphology	372	ARCN1	OMIM:617164
HP:0005922	Abnormal hand morphology	7543	ZFX	OMIM:301118
HP:0005922	Abnormal hand morphology	55027	HEATR3	OMIM:620072
HP:0005922	Abnormal hand morphology	374879	ZNF699	OMIM:619488
HP:0005922	Abnormal hand morphology	8318	CDC45	OMIM:617063
HP:0005922	Abnormal hand morphology	220296	HEPACAM	ORPHA:210548
HP:0005922	Abnormal hand morphology	57688	ZSWIM6	OMIM:603671
HP:0005922	Abnormal hand morphology	7020	TFAP2A	OMIM:113620
HP:0005922	Abnormal hand morphology	7020	TFAP2A	ORPHA:1297
HP:0005922	Abnormal hand morphology	9343	EFTUD2	OMIM:610536
HP:0005922	Abnormal hand morphology	9343	EFTUD2	ORPHA:79113
HP:0005922	Abnormal hand morphology	3315	HSPB1	OMIM:606595
HP:0005922	Abnormal hand morphology	4358	MPV17	OMIM:618400
HP:0005922	Abnormal hand morphology	7169	TPM2	OMIM:108120
HP:0005922	Abnormal hand morphology	3187	HNRNPH1	OMIM:620083
HP:0005922	Abnormal hand morphology	8506	CNTNAP1	OMIM:618186
HP:0005922	Abnormal hand morphology	1020	CDK5	OMIM:616342
HP:0005922	Abnormal hand morphology	56006	SMG9	OMIM:616920
HP:0005922	Abnormal hand morphology	2733	GLE1	OMIM:611890
HP:0005922	Abnormal hand morphology	1861	TOR1A	OMIM:618947
HP:0005922	Abnormal hand morphology	55681	SCYL2	OMIM:618766
HP:0005922	Abnormal hand morphology	84942	WDR73	OMIM:251300
HP:0005922	Abnormal hand morphology	7841	MOGS	OMIM:606056
HP:0005922	Abnormal hand morphology	4703	NEB	OMIM:256030
HP:0005922	Abnormal hand morphology	2581	GALC	ORPHA:206436
HP:0005922	Abnormal hand morphology	5660	PSAP	ORPHA:206436
HP:0005922	Abnormal hand morphology	23345	SYNE1	ORPHA:319332
HP:0005922	Abnormal hand morphology	23299	BICD2	OMIM:618291
HP:0005922	Abnormal hand morphology	2317	FLNB	ORPHA:56305
HP:0005922	Abnormal hand morphology	2898	GRIK2	OMIM:619580
HP:0005922	Abnormal hand morphology	54880	BCOR	OMIM:300166
HP:0005922	Abnormal hand morphology	57498	KIDINS220	OMIM:619501
HP:0005922	Abnormal hand morphology	80816	ASXL3	OMIM:615485
HP:0005922	Abnormal hand morphology	84342	COG8	OMIM:611182
HP:0005922	Abnormal hand morphology	6536	SLC6A9	OMIM:617301
HP:0005922	Abnormal hand morphology	51741	WWOX	OMIM:616211
HP:0005922	Abnormal hand morphology	84162	BLTP1	OMIM:617822
HP:0005922	Abnormal hand morphology	667	DST	OMIM:614653
HP:0005922	Abnormal hand morphology	2782	GNB1	OMIM:616973
HP:0005922	Abnormal hand morphology	3897	L1CAM	ORPHA:2466
HP:0005922	Abnormal hand morphology	529	ATP6V1E1	OMIM:617402
HP:0005922	Abnormal hand morphology	4654	MYOD1	OMIM:618975
HP:0005922	Abnormal hand morphology	54676	GTPBP2	OMIM:617988
HP:0005922	Abnormal hand morphology	4137	MAPT	ORPHA:240103
HP:0005922	Abnormal hand morphology	4929	NR4A2	ORPHA:1617
HP:0005922	Abnormal hand morphology	10716	TBR1	ORPHA:1617
HP:0005922	Abnormal hand morphology	3736	KCNA1	ORPHA:37612
HP:0005922	Abnormal hand morphology	9401	RECQL4	ORPHA:1225
HP:0005922	Abnormal hand morphology	51199	NIN	OMIM:614851
HP:0005922	Abnormal hand morphology	51199	NIN	ORPHA:319675
HP:0005922	Abnormal hand morphology	1280	COL2A1	ORPHA:85166
HP:0005922	Abnormal hand morphology	6473	SHOX	ORPHA:240
HP:0005922	Abnormal hand morphology	6473	SHOX	OMIM:127300
HP:0005922	Abnormal hand morphology	6473	SHOX	ORPHA:2632
HP:0005922	Abnormal hand morphology	157570	ESCO2	OMIM:216100
HP:0005922	Abnormal hand morphology	4593	MUSK	OMIM:208150
HP:0005922	Abnormal hand morphology	7136	TNNI2	OMIM:601680
HP:0005922	Abnormal hand morphology	63895	PIEZO2	OMIM:114300
HP:0005922	Abnormal hand morphology	9361	LONP1	OMIM:600373
HP:0005922	Abnormal hand morphology	8720	MBTPS1	OMIM:618392
HP:0005922	Abnormal hand morphology	23233	EXOC6B	OMIM:618395
HP:0005922	Abnormal hand morphology	55325	UFSP2	OMIM:617974
HP:0005922	Abnormal hand morphology	3209	HOXA13	OMIM:140000
HP:0005922	Abnormal hand morphology	865	CBFB	OMIM:620099
HP:0005922	Abnormal hand morphology	4148	MATN3	OMIM:607078
HP:0005922	Abnormal hand morphology	55650	PIGV	OMIM:239300
HP:0005922	Abnormal hand morphology	2588	GALNS	OMIM:253000
HP:0005922	Abnormal hand morphology	2137	EXTL3	ORPHA:508533
HP:0005922	Abnormal hand morphology	4921	DDR2	OMIM:271665
HP:0005922	Abnormal hand morphology	2200	FBN1	OMIM:608328
HP:0005922	Abnormal hand morphology	4882	NPR2	OMIM:602875
HP:0005922	Abnormal hand morphology	7030	TFE3	OMIM:301066
HP:0005922	Abnormal hand morphology	633	BGN	OMIM:300106
HP:0005922	Abnormal hand morphology	9742	IFT140	OMIM:266920
HP:0005922	Abnormal hand morphology	1788	DNMT3A	OMIM:618724
HP:0005922	Abnormal hand morphology	2720	GLB1	ORPHA:79255
HP:0005922	Abnormal hand morphology	3549	IHH	ORPHA:93388
HP:0005922	Abnormal hand morphology	81794	ADAMTS10	OMIM:277600
HP:0005922	Abnormal hand morphology	23019	CNOT1	OMIM:618500
HP:0005922	Abnormal hand morphology	5566	PRKACA	ORPHA:289
HP:0005922	Abnormal hand morphology	5567	PRKACB	ORPHA:289
HP:0005922	Abnormal hand morphology	2735	GLI1	ORPHA:289
HP:0005922	Abnormal hand morphology	51626	DYNC2LI1	ORPHA:289
HP:0005922	Abnormal hand morphology	54928	BPNT2	OMIM:614078
HP:0005922	Abnormal hand morphology	1300	COL10A1	ORPHA:174
HP:0005922	Abnormal hand morphology	59341	TRPV4	ORPHA:93314
HP:0005922	Abnormal hand morphology	9935	MAFB	OMIM:166300
HP:0005922	Abnormal hand morphology	9935	MAFB	ORPHA:2774
HP:0005922	Abnormal hand morphology	54808	DYM	OMIM:223800
HP:0005922	Abnormal hand morphology	5832	ALDH18A1	OMIM:601162
HP:0005922	Abnormal hand morphology	3909	LAMA3	ORPHA:79404
HP:0005922	Abnormal hand morphology	3918	LAMC2	ORPHA:79404
HP:0005922	Abnormal hand morphology	3914	LAMB3	ORPHA:79404
HP:0005922	Abnormal hand morphology	1308	COL17A1	ORPHA:79406
HP:0005922	Abnormal hand morphology	1308	COL17A1	ORPHA:251393
HP:0005922	Abnormal hand morphology	4312	MMP1	ORPHA:79408
HP:0005922	Abnormal hand morphology	1294	COL7A1	ORPHA:79408
HP:0005922	Abnormal hand morphology	1294	COL7A1	ORPHA:79409
HP:0005922	Abnormal hand morphology	1294	COL7A1	OMIM:226600
HP:0005922	Abnormal hand morphology	1294	COL7A1	ORPHA:79410
HP:0005922	Abnormal hand morphology	1294	COL7A1	ORPHA:79411
HP:0005922	Abnormal hand morphology	1294	COL7A1	ORPHA:89842
HP:0005922	Abnormal hand morphology	1832	DSP	OMIM:609638
HP:0005922	Abnormal hand morphology	3852	KRT5	OMIM:619599
HP:0005922	Abnormal hand morphology	3691	ITGB4	ORPHA:251393
HP:0005922	Abnormal hand morphology	8239	USP9X	ORPHA:480880
HP:0005922	Abnormal hand morphology	50964	SOST	OMIM:269500
HP:0005922	Abnormal hand morphology	8481	OFD1	ORPHA:2750
HP:0005922	Abnormal hand morphology	11253	MAN1B1	ORPHA:397941
HP:0005922	Abnormal hand morphology	11253	MAN1B1	OMIM:614202
HP:0005922	Abnormal hand morphology	340533	NEXMIF	OMIM:300912
HP:0005922	Abnormal hand morphology	1139	CHRNA7	ORPHA:199318
HP:0005922	Abnormal hand morphology	1139	CHRNA7	OMIM:612001
HP:0005922	Abnormal hand morphology	23135	KDM6B	OMIM:618505
HP:0005922	Abnormal hand morphology	4010	LMX1B	ORPHA:2614
HP:0005922	Abnormal hand morphology	4010	LMX1B	OMIM:161200
HP:0005922	Abnormal hand morphology	10054	UBA2	OMIM:619959
HP:0005922	Abnormal hand morphology	51126	NAA20	OMIM:619717
HP:0005922	Abnormal hand morphology	2972	BRF1	OMIM:616202
HP:0005922	Abnormal hand morphology	83987	CCDC8	ORPHA:2616
HP:0005922	Abnormal hand morphology	83987	CCDC8	OMIM:614205
HP:0005922	Abnormal hand morphology	5927	KDM5A	OMIM:620820
HP:0005922	Abnormal hand morphology	283120	H19	ORPHA:231140
HP:0005922	Abnormal hand morphology	283120	H19	ORPHA:231144
HP:0005922	Abnormal hand morphology	197131	UBR1	OMIM:243800
HP:0005922	Abnormal hand morphology	5932	RBBP8	OMIM:606744
HP:0005922	Abnormal hand morphology	5932	RBBP8	ORPHA:808
HP:0005922	Abnormal hand morphology	3021	H3-3B	OMIM:619721
HP:0005922	Abnormal hand morphology	4286	MITF	OMIM:617306
HP:0005922	Abnormal hand morphology	9723	SEMA3E	ORPHA:138
HP:0005922	Abnormal hand morphology	3190	HNRNPK	OMIM:616580
HP:0005922	Abnormal hand morphology	25885	POLR1A	OMIM:616462
HP:0005922	Abnormal hand morphology	10606	PAICS	OMIM:619859
HP:0005922	Abnormal hand morphology	1009	CDH11	OMIM:619736
HP:0005922	Abnormal hand morphology	23327	NEDD4L	OMIM:617201
HP:0005922	Abnormal hand morphology	2783	GNB2	OMIM:619503
HP:0005922	Abnormal hand morphology	1182	CLCN3	OMIM:619512
HP:0005922	Abnormal hand morphology	57680	CHD8	OMIM:615032
HP:0005922	Abnormal hand morphology	5048	PAFAH1B1	ORPHA:217385
HP:0005922	Abnormal hand morphology	5048	PAFAH1B1	ORPHA:531
HP:0005922	Abnormal hand morphology	7531	YWHAE	ORPHA:217385
HP:0005922	Abnormal hand morphology	7531	YWHAE	ORPHA:531
HP:0005922	Abnormal hand morphology	2550	GABBR1	OMIM:620502
HP:0005922	Abnormal hand morphology	8364	H4C3	OMIM:619758
HP:0005922	Abnormal hand morphology	5590	PRKCZ	ORPHA:1606
HP:0005922	Abnormal hand morphology	2563	GABRD	ORPHA:1606
HP:0005922	Abnormal hand morphology	23013	SPEN	ORPHA:1606
HP:0005922	Abnormal hand morphology	8510	MMP23B	ORPHA:1606
HP:0005922	Abnormal hand morphology	7798	LUZP1	ORPHA:1606
HP:0005922	Abnormal hand morphology	6497	SKI	ORPHA:1606
HP:0005922	Abnormal hand morphology	10630	PDPN	ORPHA:1606
HP:0005922	Abnormal hand morphology	3339	HSPG2	ORPHA:1606
HP:0005922	Abnormal hand morphology	10277	UBE4B	ORPHA:1606
HP:0005922	Abnormal hand morphology	8514	KCNAB2	ORPHA:1606
HP:0005922	Abnormal hand morphology	473	RERE	ORPHA:1606
HP:0005922	Abnormal hand morphology	473	RERE	OMIM:616975
HP:0005922	Abnormal hand morphology	63976	PRDM16	ORPHA:1606
HP:0005922	Abnormal hand morphology	54897	CASZ1	ORPHA:1606
HP:0005922	Abnormal hand morphology	6942	TCF20	OMIM:618430
HP:0005922	Abnormal hand morphology	57479	PRR12	OMIM:619539
HP:0005922	Abnormal hand morphology	10533	ATG7	OMIM:619422
HP:0005922	Abnormal hand morphology	8295	TRRAP	OMIM:618454
HP:0005922	Abnormal hand morphology	9949	AMMECR1	OMIM:300990
HP:0005922	Abnormal hand morphology	3479	IGF1	ORPHA:73272
HP:0005922	Abnormal hand morphology	3479	IGF1	OMIM:608747
HP:0005922	Abnormal hand morphology	6477	SIAH1	OMIM:619314
HP:0005922	Abnormal hand morphology	8473	OGT	OMIM:300997
HP:0005922	Abnormal hand morphology	10785	WDR4	OMIM:618347
HP:0005922	Abnormal hand morphology	1798	DPAGT1	OMIM:608093
HP:0005922	Abnormal hand morphology	170689	ADAMTS15	OMIM:620545
HP:0005922	Abnormal hand morphology	253738	EBF3	ORPHA:96148
HP:0005922	Abnormal hand morphology	4076	CAPRIN1	OMIM:620782
HP:0005922	Abnormal hand morphology	1725	DHPS	OMIM:618480
HP:0005922	Abnormal hand morphology	4052	LTBP1	OMIM:619451
HP:0005922	Abnormal hand morphology	9496	TBX4	ORPHA:261279
HP:0005922	Abnormal hand morphology	5283	PIGH	OMIM:618010
HP:0005922	Abnormal hand morphology	6874	TAF4	OMIM:620450
HP:0005922	Abnormal hand morphology	50801	KCNK4	OMIM:618381
HP:0005922	Abnormal hand morphology	9757	KMT2B	ORPHA:589618
HP:0005922	Abnormal hand morphology	57003	CCDC47	OMIM:618268
HP:0005922	Abnormal hand morphology	8812	CCNK	OMIM:618147
HP:0005922	Abnormal hand morphology	92002	CCNQ	OMIM:300707
HP:0005922	Abnormal hand morphology	92002	CCNQ	ORPHA:140952
HP:0005922	Abnormal hand morphology	2887	GRB10	ORPHA:96182
HP:0005922	Abnormal hand morphology	1457	CSNK2A1	OMIM:617062
HP:0005922	Abnormal hand morphology	90416	CCDC32	OMIM:619123
HP:0005922	Abnormal hand morphology	55717	WDR11	OMIM:620237
HP:0005922	Abnormal hand morphology	3090	HIC1	ORPHA:531
HP:0005922	Abnormal hand morphology	10436	EMG1	OMIM:211180
HP:0005922	Abnormal hand morphology	10436	EMG1	ORPHA:1270
HP:0005922	Abnormal hand morphology	23387	SIK3	OMIM:618162
HP:0005922	Abnormal hand morphology	22800	RRAS2	ORPHA:648
HP:0005922	Abnormal hand morphology	867	CBL	ORPHA:648
HP:0005922	Abnormal hand morphology	8216	LZTR1	ORPHA:648
HP:0005922	Abnormal hand morphology	6016	RIT1	ORPHA:648
HP:0005922	Abnormal hand morphology	6237	RRAS	ORPHA:648
HP:0005922	Abnormal hand morphology	5894	RAF1	ORPHA:648
HP:0005922	Abnormal hand morphology	22808	MRAS	ORPHA:648
HP:0005922	Abnormal hand morphology	200734	SPRED2	ORPHA:648
HP:0005922	Abnormal hand morphology	4893	NRAS	ORPHA:648
HP:0005922	Abnormal hand morphology	6654	SOS1	ORPHA:648
HP:0005922	Abnormal hand morphology	6655	SOS2	ORPHA:648
HP:0005922	Abnormal hand morphology	5922	RASA2	ORPHA:648
HP:0005922	Abnormal hand morphology	6913	TBX15	OMIM:260660
HP:0005922	Abnormal hand morphology	79023	NUP37	OMIM:618179
HP:0005922	Abnormal hand morphology	27161	AGO2	OMIM:619149
HP:0005922	Abnormal hand morphology	221927	BRAT1	OMIM:618056
HP:0005922	Abnormal hand morphology	161742	SPRED1	ORPHA:137605
HP:0005922	Abnormal hand morphology	7337	UBE3A	ORPHA:238446
HP:0005922	Abnormal hand morphology	58499	ZNF462	ORPHA:502430
HP:0005922	Abnormal hand morphology	58499	ZNF462	OMIM:618619
HP:0005922	Abnormal hand morphology	3728	JUP	ORPHA:158687
HP:0005922	Abnormal hand morphology	23241	PACS2	OMIM:618067
HP:0005922	Abnormal hand morphology	7518	XRCC4	ORPHA:99812
HP:0005922	Abnormal hand morphology	8854	ALDH1A2	OMIM:620025
HP:0005922	Abnormal hand morphology	10274	STAG1	ORPHA:502434
HP:0005922	Abnormal hand morphology	89910	UBE3B	OMIM:244450
HP:0005922	Abnormal hand morphology	7175	TPR	OMIM:620393
HP:0005922	Abnormal hand morphology	9184	BUB3	ORPHA:1052
HP:0005922	Abnormal hand morphology	699	BUB1	ORPHA:1052
HP:0005922	Abnormal hand morphology	699	BUB1	OMIM:620183
HP:0005922	Abnormal hand morphology	9702	CEP57	ORPHA:1052
HP:0005922	Abnormal hand morphology	9702	CEP57	OMIM:614114
HP:0005922	Abnormal hand morphology	9319	TRIP13	ORPHA:1052
HP:0005922	Abnormal hand morphology	701	BUB1B	ORPHA:1052
HP:0005922	Abnormal hand morphology	54476	RNF216	ORPHA:1173
HP:0005922	Abnormal hand morphology	23036	ZNF292	OMIM:619188
HP:0005922	Abnormal hand morphology	79813	EHMT1	OMIM:610253
HP:0005922	Abnormal hand morphology	4953	ODC1	OMIM:619075
HP:0005922	Abnormal hand morphology	4953	ODC1	ORPHA:544488
HP:0005922	Abnormal hand morphology	26053	AUTS2	OMIM:615834
HP:0005922	Abnormal hand morphology	6804	STX1A	ORPHA:904
HP:0005922	Abnormal hand morphology	7461	CLIP2	ORPHA:904
HP:0005922	Abnormal hand morphology	84277	DNAJC30	ORPHA:904
HP:0005922	Abnormal hand morphology	8468	FKBP6	ORPHA:904
HP:0005922	Abnormal hand morphology	5982	RFC2	ORPHA:904
HP:0005922	Abnormal hand morphology	2969	GTF2I	ORPHA:904
HP:0005922	Abnormal hand morphology	3984	LIMK1	ORPHA:904
HP:0005922	Abnormal hand morphology	9569	GTF2IRD1	ORPHA:904
HP:0005922	Abnormal hand morphology	155382	VPS37D	ORPHA:904
HP:0005922	Abnormal hand morphology	155368	METTL27	ORPHA:904
HP:0005922	Abnormal hand morphology	114049	BUD23	ORPHA:904
HP:0005922	Abnormal hand morphology	7458	EIF4H	ORPHA:904
HP:0005922	Abnormal hand morphology	84163	GTF2IRD2	ORPHA:904
HP:0005922	Abnormal hand morphology	26608	TBL2	ORPHA:904
HP:0005922	Abnormal hand morphology	653361	NCF1	ORPHA:904
HP:0005922	Abnormal hand morphology	135886	TMEM270	ORPHA:904
HP:0005922	Abnormal hand morphology	9031	BAZ1B	ORPHA:904
HP:0005922	Abnormal hand morphology	2006	ELN	ORPHA:904
HP:0005922	Abnormal hand morphology	2006	ELN	OMIM:194050
HP:0005922	Abnormal hand morphology	3207	HOXA11	ORPHA:71289
HP:0005922	Abnormal hand morphology	3207	HOXA11	OMIM:605432
HP:0005922	Abnormal hand morphology	81031	SLC2A10	ORPHA:3342
HP:0005922	Abnormal hand morphology	55165	CEP55	OMIM:236500
HP:0005922	Abnormal hand morphology	84992	PIGY	OMIM:616809
HP:0005922	Abnormal hand morphology	4094	MAF	ORPHA:1272
HP:0005922	Abnormal hand morphology	6628	SNRPB	ORPHA:1393
HP:0005922	Abnormal hand morphology	6628	SNRPB	OMIM:117650
HP:0005922	Abnormal hand morphology	51085	MLXIPL	OMIM:194050
HP:0005922	Abnormal hand morphology	10430	TMEM147	OMIM:620075
HP:0005922	Abnormal hand morphology	1482	NKX2-5	OMIM:187500
HP:0005922	Abnormal hand morphology	1482	NKX2-5	ORPHA:3303
HP:0005922	Abnormal hand morphology	2626	GATA4	OMIM:187500
HP:0005922	Abnormal hand morphology	2626	GATA4	ORPHA:3303
HP:0005922	Abnormal hand morphology	23414	ZFPM2	OMIM:187500
HP:0005922	Abnormal hand morphology	23414	ZFPM2	ORPHA:3303
HP:0005922	Abnormal hand morphology	2627	GATA6	OMIM:187500
HP:0005922	Abnormal hand morphology	2627	GATA6	ORPHA:3303
HP:0005922	Abnormal hand morphology	79902	NUP85	ORPHA:808
HP:0005922	Abnormal hand morphology	84126	ATRIP	ORPHA:808
HP:0005922	Abnormal hand morphology	10293	TRAIP	ORPHA:808
HP:0005922	Abnormal hand morphology	10733	PLK4	ORPHA:808
HP:0005922	Abnormal hand morphology	55023	PHIP	ORPHA:589905
HP:0005922	Abnormal hand morphology	55023	PHIP	OMIM:617991
HP:0005922	Abnormal hand morphology	4208	MEF2C	OMIM:613443
HP:0005922	Abnormal hand morphology	129880	BBS5	OMIM:615983
HP:0005922	Abnormal hand morphology	9230	RAB11B	OMIM:617807
HP:0005922	Abnormal hand morphology	51621	KLF13	OMIM:612001
HP:0005922	Abnormal hand morphology	11133	KPTN	OMIM:615637
HP:0005922	Abnormal hand morphology	11133	KPTN	ORPHA:397612
HP:0005922	Abnormal hand morphology	137814	NKX2-6	ORPHA:3303
HP:0005922	Abnormal hand morphology	3791	KDR	ORPHA:3303
HP:0005922	Abnormal hand morphology	2657	GDF1	ORPHA:3303
HP:0005922	Abnormal hand morphology	140628	GATA5	ORPHA:3303
HP:0005922	Abnormal hand morphology	2324	FLT4	ORPHA:3303
HP:0005922	Abnormal hand morphology	10370	CITED2	ORPHA:3303
HP:0005922	Abnormal hand morphology	2334	AFF2	ORPHA:100973
HP:0005922	Abnormal hand morphology	4131	MAP1B	OMIM:618918
HP:0005922	Abnormal hand morphology	84679	SLC9A7	OMIM:301024
HP:0005922	Abnormal hand morphology	10735	STAG2	OMIM:301022
HP:0005922	Abnormal hand morphology	81620	CDT1	ORPHA:2554
HP:0005922	Abnormal hand morphology	5000	ORC4	ORPHA:2554
HP:0005922	Abnormal hand morphology	23594	ORC6	ORPHA:2554
HP:0005922	Abnormal hand morphology	990	CDC6	ORPHA:2554
HP:0005922	Abnormal hand morphology	25	ABL1	OMIM:617602
HP:0005922	Abnormal hand morphology	83696	TRAPPC9	ORPHA:352530
HP:0005922	Abnormal hand morphology	22931	RAB18	OMIM:614222
HP:0005922	Abnormal hand morphology	490	ATP2B1	OMIM:619910
HP:0005922	Abnormal hand morphology	8405	SPOP	OMIM:618828
HP:0005922	Abnormal hand morphology	8405	SPOP	OMIM:618829
HP:0005922	Abnormal hand morphology	284252	KCTD1	OMIM:181270
HP:0005922	Abnormal hand morphology	54870	QRICH1	OMIM:617982
HP:0005922	Abnormal hand morphology	139285	AMER1	OMIM:300373
HP:0005922	Abnormal hand morphology	1663	DDX11	OMIM:613398
HP:0005922	Abnormal hand morphology	51317	PHF21A	OMIM:618725
HP:0005922	Abnormal hand morphology	55553	SOX6	OMIM:618971
HP:0005922	Abnormal hand morphology	84148	KAT8	OMIM:618974
HP:0005922	Abnormal hand morphology	84068	SLC10A7	OMIM:618363
HP:0005922	Abnormal hand morphology	29072	SETD2	OMIM:616831
HP:0005922	Abnormal hand morphology	54187	NANS	OMIM:610442
HP:0005922	Abnormal hand morphology	347734	SLC35B2	OMIM:620269
HP:0005922	Abnormal hand morphology	23169	SLC35D1	OMIM:269250
HP:0005922	Abnormal hand morphology	1311	COMP	ORPHA:750
HP:0005922	Abnormal hand morphology	1311	COMP	OMIM:177170
HP:0005922	Abnormal hand morphology	9451	EIF2AK3	OMIM:226980
HP:0005922	Abnormal hand morphology	23592	LEMD3	ORPHA:166119
HP:0005922	Abnormal hand morphology	10568	SLC34A2	ORPHA:60025
HP:0005922	Abnormal hand morphology	3417	IDH1	ORPHA:99646
HP:0005922	Abnormal hand morphology	5251	PHEX	OMIM:307800
HP:0005922	Abnormal hand morphology	3480	IGF1R	ORPHA:73273
HP:0005922	Abnormal hand morphology	2245	FGD1	OMIM:305400
HP:0005922	Abnormal hand morphology	2245	FGD1	ORPHA:915
HP:0005922	Abnormal hand morphology	2879	GPX4	ORPHA:93317
HP:0005922	Abnormal hand morphology	124997	WDR81	OMIM:610185
HP:0005922	Abnormal hand morphology	9759	HDAC4	ORPHA:1001
HP:0005922	Abnormal hand morphology	118429	ANTXR2	ORPHA:2176
HP:0005922	Abnormal hand morphology	55777	MBD5	ORPHA:228402
HP:0005922	Abnormal hand morphology	55777	MBD5	OMIM:156200
HP:0005922	Abnormal hand morphology	100033413	SNORD116-1	OMIM:176270
HP:0005922	Abnormal hand morphology	8924	HERC2	OMIM:176270
HP:0005922	Abnormal hand morphology	23742	NPAP1	OMIM:176270
HP:0005922	Abnormal hand morphology	338433	SNORD115-1	OMIM:176270
HP:0005922	Abnormal hand morphology	54551	MAGEL2	OMIM:176270
HP:0005922	Abnormal hand morphology	7681	MKRN3	OMIM:176270
HP:0005922	Abnormal hand morphology	145624	PWAR1	OMIM:176270
HP:0005922	Abnormal hand morphology	3653	IPW	OMIM:176270
HP:0005922	Abnormal hand morphology	791114	PWRN1	OMIM:176270
HP:0005922	Abnormal hand morphology	55112	DYNC2I1	ORPHA:93271
HP:0005922	Abnormal hand morphology	57560	IFT80	ORPHA:93271
HP:0005922	Abnormal hand morphology	57539	WDR35	ORPHA:93271
HP:0005922	Abnormal hand morphology	79659	DYNC2H1	ORPHA:93271
HP:0005922	Abnormal hand morphology	89891	DYNC2I2	ORPHA:93271
HP:0005922	Abnormal hand morphology	613	BCR	ORPHA:261330
HP:0005922	Abnormal hand morphology	1399	CRKL	ORPHA:261330
HP:0005922	Abnormal hand morphology	5594	MAPK1	ORPHA:261330
HP:0005922	Abnormal hand morphology	23030	KDM4B	OMIM:619320
HP:0005922	Abnormal hand morphology	79639	TMEM53	OMIM:619727
HP:0005922	Abnormal hand morphology	55249	YY1AP1	ORPHA:79094
HP:0005922	Abnormal hand morphology	10982	MAPRE2	OMIM:616734
HP:0005922	Abnormal hand morphology	25782	RAB3GAP2	OMIM:212720
HP:0005922	Abnormal hand morphology	6023	RMRP	ORPHA:175
HP:0005922	Abnormal hand morphology	6023	RMRP	OMIM:607095
HP:0005922	Abnormal hand morphology	6023	RMRP	OMIM:250250
HP:0005922	Abnormal hand morphology	818	CAMK2G	OMIM:618522
HP:0005922	Abnormal hand morphology	4998	ORC1	OMIM:224690
HP:0005922	Abnormal hand morphology	80204	FBXO11	OMIM:618089
HP:0005922	Abnormal hand morphology	1778	DYNC1H1	OMIM:614563
HP:0005922	Abnormal hand morphology	23476	BRD4	OMIM:620568
HP:0005922	Abnormal hand morphology	4054	LTBP3	ORPHA:969
HP:0005922	Abnormal hand morphology	3759	KCNJ2	OMIM:170390
HP:0005922	Abnormal hand morphology	2263	FGFR2	ORPHA:93258
HP:0005922	Abnormal hand morphology	5745	PTH1R	ORPHA:79106
HP:0005922	Abnormal hand morphology	222663	SCUBE3	OMIM:619184
HP:0005922	Abnormal hand morphology	80311	KLHL15	OMIM:300982
HP:0005922	Abnormal hand morphology	10943	MSL3	OMIM:301032
HP:0005922	Abnormal hand morphology	1301	COL11A1	OMIM:228520
HP:0005922	Abnormal hand morphology	55012	PPP2R3C	OMIM:618419
HP:0005922	Abnormal hand morphology	51715	RAB23	ORPHA:65759
HP:0005922	Abnormal hand morphology	1954	MEGF8	ORPHA:65759
HP:0005922	Abnormal hand morphology	25942	SIN3A	OMIM:613406
HP:0005922	Abnormal hand morphology	9244	CRLF1	OMIM:272430
HP:0005922	Abnormal hand morphology	4000	LMNA	ORPHA:79474
HP:0005922	Abnormal hand morphology	538	ATP7A	ORPHA:198
HP:0005922	Abnormal hand morphology	6905	TBCE	OMIM:241410
HP:0005922	Abnormal hand morphology	6905	TBCE	OMIM:244460
HP:0005922	Abnormal hand morphology	145173	B3GLCT	OMIM:261540
HP:0005922	Abnormal hand morphology	1857	DVL3	ORPHA:3107
HP:0005922	Abnormal hand morphology	7474	WNT5A	ORPHA:3107
HP:0005922	Abnormal hand morphology	7474	WNT5A	OMIM:180700
HP:0005922	Abnormal hand morphology	1855	DVL1	ORPHA:3107
HP:0005922	Abnormal hand morphology	1855	DVL1	OMIM:180700
HP:0005922	Abnormal hand morphology	2535	FZD2	ORPHA:3107
HP:0005922	Abnormal hand morphology	2535	FZD2	ORPHA:93328
HP:0005922	Abnormal hand morphology	132884	EVC2	OMIM:193530
HP:0005922	Abnormal hand morphology	2121	EVC	OMIM:193530
HP:0005922	Abnormal hand morphology	10013	HDAC6	ORPHA:163966
HP:0005922	Abnormal hand morphology	79753	SNIP1	OMIM:614501
HP:0005922	Abnormal hand morphology	9719	ADAMTSL2	OMIM:231050
HP:0005922	Abnormal hand morphology	4796	TONSL	ORPHA:93357
HP:0005922	Abnormal hand morphology	10236	HNRNPR	OMIM:620073
HP:0005922	Abnormal hand morphology	79718	TBL1XR1	OMIM:602342
HP:0005922	Abnormal hand morphology	1298	COL9A2	OMIM:600204
HP:0005922	Abnormal hand morphology	3636	INPPL1	OMIM:258480
HP:0005922	Abnormal hand morphology	4089	SMAD4	OMIM:139210
HP:0005922	Abnormal hand morphology	4089	SMAD4	ORPHA:2588
HP:0005922	Abnormal hand morphology	5159	PDGFRB	OMIM:601812
HP:0005922	Abnormal hand morphology	23522	KAT6B	ORPHA:85201
HP:0005922	Abnormal hand morphology	7204	TRIO	ORPHA:476126
HP:0005922	Abnormal hand morphology	3845	KRAS	ORPHA:3339
HP:0005922	Abnormal hand morphology	28957	MRPS28	OMIM:618958
HP:0005922	Abnormal hand morphology	23261	CAMTA1	OMIM:614756
HP:0005922	Abnormal hand morphology	8450	CUL4B	ORPHA:85293
HP:0005922	Abnormal hand morphology	25839	COG4	ORPHA:85172
HP:0005922	Abnormal hand morphology	6925	TCF4	OMIM:610954
HP:0005922	Abnormal hand morphology	5295	PIK3R1	ORPHA:3163
HP:0005922	Abnormal hand morphology	8813	DPM1	OMIM:608799
HP:0005922	Abnormal hand morphology	10743	RAI1	OMIM:182290
HP:0005922	Abnormal hand morphology	89970	RSPRY1	ORPHA:457395
HP:0005922	Abnormal hand morphology	51322	WAC	ORPHA:466950
HP:0005922	Abnormal hand morphology	147372	CCBE1	OMIM:235510
HP:0005922	Abnormal hand morphology	29123	ANKRD11	OMIM:148050
HP:0005922	Abnormal hand morphology	2719	GPC3	OMIM:312870
HP:0005922	Abnormal hand morphology	2239	GPC4	OMIM:312870
HP:0005922	Abnormal hand morphology	7227	TRPS1	OMIM:190351
HP:0005922	Abnormal hand morphology	5727	PTCH1	OMIM:109400
HP:0005922	Abnormal hand morphology	90459	ERI1	OMIM:620662
HP:0005922	Abnormal hand morphology	579	NKX3-2	OMIM:613330
HP:0005922	Abnormal hand morphology	9555	MACROH2A1	ORPHA:1275
HP:0005922	Abnormal hand morphology	5307	PITX1	ORPHA:1275
HP:0005922	Abnormal hand morphology	92482	BBIP1	ORPHA:110
HP:0005922	Abnormal hand morphology	49855	SCAPER	ORPHA:110
HP:0005922	Abnormal hand morphology	132320	SCLT1	ORPHA:110
HP:0005922	Abnormal hand morphology	84984	CEP19	ORPHA:110
HP:0005922	Abnormal hand morphology	22954	TRIM32	ORPHA:110
HP:0005922	Abnormal hand morphology	79738	BBS10	ORPHA:110
HP:0005922	Abnormal hand morphology	123016	TTC8	ORPHA:110
HP:0005922	Abnormal hand morphology	585	BBS4	ORPHA:110
HP:0005922	Abnormal hand morphology	55212	BBS7	ORPHA:110
HP:0005922	Abnormal hand morphology	10806	SDCCAG8	ORPHA:110
HP:0005922	Abnormal hand morphology	4613	MYCN	ORPHA:391641
HP:0005922	Abnormal hand morphology	4613	MYCN	OMIM:620748
HP:0005922	Abnormal hand morphology	4613	MYCN	OMIM:164280
HP:0005922	Abnormal hand morphology	5422	POLA1	OMIM:301030
HP:0005922	Abnormal hand morphology	652	BMP4	OMIM:607932
HP:0005922	Abnormal hand morphology	51053	GMNN	OMIM:616835
HP:0005922	Abnormal hand morphology	22995	CEP152	OMIM:613823
HP:0005922	Abnormal hand morphology	55081	IFT57	OMIM:617927
HP:0005922	Abnormal hand morphology	407975	MIR17HG	ORPHA:391646
HP:0005922	Abnormal hand morphology	8823	FGF16	OMIM:309630
HP:0005922	Abnormal hand morphology	5980	REV3L	ORPHA:570
HP:0005922	Abnormal hand morphology	23129	PLXND1	ORPHA:570
HP:0005922	Abnormal hand morphology	5573	PRKAR1A	ORPHA:950
HP:0005922	Abnormal hand morphology	5144	PDE4D	ORPHA:950
HP:0005922	Abnormal hand morphology	29957	SLC25A24	ORPHA:2095
HP:0005922	Abnormal hand morphology	9791	PTDSS1	ORPHA:2658
HP:0005922	Abnormal hand morphology	64327	LMBR1	ORPHA:2378
HP:0005922	Abnormal hand morphology	285590	SH3PXD2B	ORPHA:137834
HP:0005922	Abnormal hand morphology	207	AKT1	ORPHA:744
HP:0005922	Abnormal hand morphology	6595	SMARCA2	ORPHA:3051
HP:0005922	Abnormal hand morphology	9241	NOG	ORPHA:3250
HP:0005922	Abnormal hand morphology	8200	GDF5	ORPHA:3250
HP:0005922	Abnormal hand morphology	4038	LRP4	ORPHA:3258
HP:0005922	Abnormal hand morphology	324	APC	ORPHA:3258
HP:0005922	Abnormal hand morphology	6926	TBX3	ORPHA:3138
HP:0005922	Abnormal hand morphology	8195	MKKS	ORPHA:2473
HP:0005922	Abnormal hand morphology	64093	SMOC1	ORPHA:1106
HP:0005922	Abnormal hand morphology	1186	CLCN7	ORPHA:53
HP:0005922	Abnormal hand morphology	860	RUNX2	ORPHA:1452
HP:0005922	Abnormal hand morphology	1302	COL11A2	ORPHA:166100
HP:0005922	Abnormal hand morphology	64374	SIL1	ORPHA:559
HP:0005922	Abnormal hand morphology	2316	FLNA	ORPHA:90650
HP:0005922	Abnormal hand morphology	2316	FLNA	ORPHA:90652
HP:0005922	Abnormal hand morphology	4313	MMP2	ORPHA:371428
HP:0005922	Abnormal hand morphology	4323	MMP14	ORPHA:371428
HP:0005922	Abnormal hand morphology	2131	EXT1	ORPHA:321
HP:0005922	Abnormal hand morphology	2132	EXT2	ORPHA:321
HP:0005922	Abnormal hand morphology	8517	IKBKG	ORPHA:464
HP:0005922	Abnormal hand morphology	1836	SLC26A2	ORPHA:93307
HP:0005922	Abnormal hand morphology	9130	FAM50A	OMIM:300261
HP:0005922	Abnormal hand morphology	23111	SPART	ORPHA:101000
HP:0005922	Abnormal hand morphology	8139	GAN	ORPHA:643
HP:0005922	Abnormal hand morphology	3835	KIF22	ORPHA:93360
HP:0005922	Abnormal hand morphology	11020	IFT27	OMIM:615996
HP:0005922	Abnormal hand morphology	4750	NEK1	ORPHA:2751
HP:0005922	Abnormal hand morphology	4784	NFIX	OMIM:602535
HP:0005922	Abnormal hand morphology	9365	KL	OMIM:617994
HP:0005922	Abnormal hand morphology	56098	PCDHGC4	OMIM:619880
HP:0005922	Abnormal hand morphology	9469	CHST3	OMIM:143095
HP:0005922	Abnormal hand morphology	171023	ASXL1	ORPHA:97297
HP:0005922	Abnormal hand morphology	11342	RNF13	ORPHA:544503
HP:0005922	Abnormal hand morphology	29895	MYL11	OMIM:619110
HP:0005922	Abnormal hand morphology	6678	SPARC	OMIM:616507
HP:0005922	Abnormal hand morphology	26229	B3GAT3	OMIM:245600
HP:0005922	Abnormal hand morphology	84295	PHF6	OMIM:301900
HP:0005922	Abnormal hand morphology	84720	PIGO	ORPHA:247262
HP:0005922	Abnormal hand morphology	84720	PIGO	OMIM:614749
HP:0005922	Abnormal hand morphology	93210	PGAP3	ORPHA:247262
HP:0005922	Abnormal hand morphology	93210	PGAP3	OMIM:615716
HP:0005922	Abnormal hand morphology	284098	PIGW	ORPHA:247262
HP:0005922	Abnormal hand morphology	27315	PGAP2	ORPHA:247262
HP:0005922	Abnormal hand morphology	27315	PGAP2	OMIM:614207
HP:0005922	Abnormal hand morphology	29929	ALG6	ORPHA:79320
HP:0005922	Abnormal hand morphology	2990	GUSB	OMIM:253220
HP:0005922	Abnormal hand morphology	4256	MGP	OMIM:245150
HP:0005922	Abnormal hand morphology	27152	INTU	OMIM:617926
HP:0005922	Abnormal hand morphology	4041	LRP5	OMIM:144750
HP:0005922	Abnormal hand morphology	4853	NOTCH2	OMIM:102500
HP:0005922	Abnormal hand morphology	64135	IFIH1	OMIM:182250
HP:0005922	Abnormal hand morphology	54543	TOMM7	OMIM:620601
HP:0005922	Abnormal hand morphology	91179	SCARF2	OMIM:600920
HP:0005922	Abnormal hand morphology	672	BRCA1	ORPHA:84
HP:0005922	Abnormal hand morphology	10459	MAD2L2	ORPHA:84
HP:0005922	Abnormal hand morphology	7516	XRCC2	ORPHA:84
HP:0005922	Abnormal hand morphology	29089	UBE2T	ORPHA:84
HP:0005922	Abnormal hand morphology	675	BRCA2	ORPHA:84
HP:0005922	Abnormal hand morphology	55120	FANCL	ORPHA:84
HP:0005922	Abnormal hand morphology	2177	FANCD2	ORPHA:84
HP:0005922	Abnormal hand morphology	2175	FANCA	ORPHA:84
HP:0005922	Abnormal hand morphology	2187	FANCB	ORPHA:84
HP:0005922	Abnormal hand morphology	2176	FANCC	ORPHA:84
HP:0005922	Abnormal hand morphology	2178	FANCE	ORPHA:84
HP:0005922	Abnormal hand morphology	2188	FANCF	ORPHA:84
HP:0005922	Abnormal hand morphology	2189	FANCG	ORPHA:84
HP:0005922	Abnormal hand morphology	5888	RAD51	ORPHA:84
HP:0005922	Abnormal hand morphology	5889	RAD51C	ORPHA:84
HP:0005922	Abnormal hand morphology	55159	RFWD3	ORPHA:84
HP:0005922	Abnormal hand morphology	83990	BRIP1	ORPHA:84
HP:0005922	Abnormal hand morphology	57697	FANCM	ORPHA:84
HP:0005922	Abnormal hand morphology	79728	PALB2	ORPHA:84
HP:0005922	Abnormal hand morphology	84464	SLX4	ORPHA:84
HP:0005922	Abnormal hand morphology	2072	ERCC4	ORPHA:84
HP:0005922	Abnormal hand morphology	55215	FANCI	ORPHA:84
HP:0005922	Abnormal hand morphology	3848	KRT1	ORPHA:79503
HP:0005922	Abnormal hand morphology	2706	GJB2	ORPHA:494
HP:0005922	Abnormal hand morphology	2706	GJB2	OMIM:124500
HP:0005922	Abnormal hand morphology	65125	WNK1	OMIM:201300
HP:0005922	Abnormal hand morphology	54463	RETREG1	OMIM:201300
HP:0005922	Abnormal hand morphology	54463	RETREG1	OMIM:613115
HP:0005922	Abnormal hand morphology	6335	SCN9A	OMIM:201300
HP:0005922	Abnormal hand morphology	547	KIF1A	OMIM:201300
HP:0005922	Abnormal hand morphology	547	KIF1A	OMIM:614213
HP:0005922	Abnormal hand morphology	162514	TRPV3	OMIM:614594
HP:0005922	Abnormal hand morphology	7051	TGM1	ORPHA:100976
HP:0005922	Abnormal hand morphology	9517	SPTLC2	OMIM:613640
HP:0005922	Abnormal hand morphology	26276	VPS33B	OMIM:620009
HP:0005922	Abnormal hand morphology	4914	NTRK1	OMIM:256800
HP:0005922	Abnormal hand morphology	11277	TREX1	OMIM:610448
HP:0005922	Abnormal hand morphology	51062	ATL1	OMIM:613708
HP:0005922	Abnormal hand morphology	5167	ENPP1	ORPHA:51608
HP:0005922	Abnormal hand morphology	368	ABCC6	ORPHA:51608
HP:0005922	Abnormal hand morphology	5518	PPP2R1A	OMIM:616362
HP:0005922	Abnormal hand morphology	1297	COL9A1	ORPHA:166002
HP:0005922	Abnormal hand morphology	1299	COL9A3	ORPHA:166002
HP:0005922	Abnormal hand morphology	5116	PCNT	OMIM:210720
HP:0005922	Abnormal hand morphology	5648	MASP1	OMIM:257920
HP:0005922	Abnormal hand morphology	6597	SMARCA4	ORPHA:1465
HP:0005922	Abnormal hand morphology	6597	SMARCA4	OMIM:614609
HP:0005922	Abnormal hand morphology	6598	SMARCB1	ORPHA:1465
HP:0005922	Abnormal hand morphology	6659	SOX4	ORPHA:1465
HP:0005922	Abnormal hand morphology	8289	ARID1A	ORPHA:1465
HP:0005922	Abnormal hand morphology	5977	DPF2	ORPHA:1465
HP:0005922	Abnormal hand morphology	6601	SMARCC2	ORPHA:1465
HP:0005922	Abnormal hand morphology	57492	ARID1B	ORPHA:1465
HP:0005922	Abnormal hand morphology	196528	ARID2	ORPHA:1465
HP:0005922	Abnormal hand morphology	6605	SMARCE1	ORPHA:1465
HP:0005922	Abnormal hand morphology	6664	SOX11	ORPHA:1465
HP:0005922	Abnormal hand morphology	5879	RAC1	ORPHA:500159
HP:0005922	Abnormal hand morphology	91461	PKDCC	OMIM:618821
HP:0005922	Abnormal hand morphology	9820	CUL7	OMIM:273750
HP:0005922	Abnormal hand morphology	23363	OBSL1	OMIM:612921
HP:0005922	Abnormal hand morphology	4848	CNOT2	OMIM:618608
HP:0005922	Abnormal hand morphology	526	ATP6V1B2	ORPHA:79500
HP:0005922	Abnormal hand morphology	57465	TBC1D24	ORPHA:79500
HP:0005922	Abnormal hand morphology	57465	TBC1D24	OMIM:220500
HP:0005922	Abnormal hand morphology	5286	PIK3C2A	ORPHA:557003
HP:0005922	Abnormal hand morphology	1327	COX4I1	OMIM:619060
HP:0005922	Abnormal hand morphology	4212	MEIS2	OMIM:600987
HP:0005922	Abnormal hand morphology	1028	CDKN1C	ORPHA:397590
HP:0005922	Abnormal hand morphology	5324	PLAG1	ORPHA:397590
HP:0005922	Abnormal hand morphology	8091	HMGA2	ORPHA:397590
HP:0005922	Abnormal hand morphology	55605	KIF21A	ORPHA:45358
HP:0005922	Abnormal hand morphology	347733	TUBB2B	ORPHA:45358
HP:0005922	Abnormal hand morphology	7846	TUBA1A	ORPHA:45358
HP:0005922	Abnormal hand morphology	401	PHOX2A	ORPHA:45358
HP:0005922	Abnormal hand morphology	84570	COL25A1	ORPHA:45358
HP:0005922	Abnormal hand morphology	6154	RPL26	OMIM:614900
HP:0005922	Abnormal hand morphology	10262	SF3B4	ORPHA:1788
HP:0005922	Abnormal hand morphology	59344	ALOXE3	OMIM:242100
HP:0005922	Abnormal hand morphology	242	ALOX12B	OMIM:242100
HP:0005922	Abnormal hand morphology	7840	ALMS1	ORPHA:64
HP:0005922	Abnormal hand morphology	9131	AIFM1	OMIM:300232
HP:0005922	Abnormal hand morphology	6134	RPL10	OMIM:300998
HP:0005922	Abnormal hand morphology	6134	RPL10	ORPHA:459070
HP:0005922	Abnormal hand morphology	7750	ZMYM2	OMIM:619522
HP:0005922	Abnormal hand morphology	9578	CDC42BPB	OMIM:619841
HP:0005922	Abnormal hand morphology	176	ACAN	OMIM:612813
HP:0005922	Abnormal hand morphology	6263	RYR3	OMIM:620310
HP:0005922	Abnormal hand morphology	9896	FIG4	OMIM:216340
HP:0005922	Abnormal hand morphology	9896	FIG4	ORPHA:3472
HP:0005922	Abnormal hand morphology	444	ASPH	OMIM:601552
HP:0005922	Abnormal hand morphology	84823	LMNB2	OMIM:619180
HP:0005922	Abnormal hand morphology	55697	VAC14	ORPHA:3472
HP:0005922	Abnormal hand morphology	164	AP1G1	OMIM:619467
HP:0005922	Abnormal hand morphology	5277	PIGA	OMIM:300868
HP:0005922	Abnormal hand morphology	57178	ZMIZ1	OMIM:618659
HP:0005922	Abnormal hand morphology	1134	CHRNA1	OMIM:253290
HP:0005922	Abnormal hand morphology	1146	CHRNG	OMIM:253290
HP:0005922	Abnormal hand morphology	1144	CHRND	OMIM:253290
HP:0005922	Abnormal hand morphology	9091	PIGQ	ORPHA:1934
HP:0005922	Abnormal hand morphology	140679	SLC32A1	ORPHA:1934
HP:0005922	Abnormal hand morphology	2775	GNAO1	ORPHA:1934
HP:0005922	Abnormal hand morphology	81603	TRIM8	ORPHA:1934
HP:0005922	Abnormal hand morphology	2902	GRIN1	ORPHA:1934
HP:0005922	Abnormal hand morphology	79751	SLC25A22	ORPHA:1934
HP:0005922	Abnormal hand morphology	150094	SIK1	ORPHA:1934
HP:0005922	Abnormal hand morphology	8573	CASK	ORPHA:1934
HP:0005922	Abnormal hand morphology	23312	DMXL2	ORPHA:1934
HP:0005922	Abnormal hand morphology	2917	GRM7	ORPHA:1934
HP:0005922	Abnormal hand morphology	170302	ARX	ORPHA:1934
HP:0005922	Abnormal hand morphology	11284	PNKP	ORPHA:1934
HP:0005922	Abnormal hand morphology	6326	SCN2A	ORPHA:1934
HP:0005922	Abnormal hand morphology	51227	PIGP	ORPHA:1934
HP:0005922	Abnormal hand morphology	6324	SCN1B	ORPHA:1934
HP:0005922	Abnormal hand morphology	4761	NEUROD2	ORPHA:1934
HP:0005922	Abnormal hand morphology	2019	EN1	OMIM:619218
HP:0005922	Abnormal hand morphology	51651	PTRH2	OMIM:616263
HP:0005922	Abnormal hand morphology	51651	PTRH2	ORPHA:456312
HP:0005922	Abnormal hand morphology	84231	TRAF7	OMIM:618164
HP:0005922	Abnormal hand morphology	7140	TNNT3	ORPHA:1147
HP:0005922	Abnormal hand morphology	7140	TNNT3	ORPHA:1146
HP:0005922	Abnormal hand morphology	4604	MYBPC1	ORPHA:1146
HP:0005922	Abnormal hand morphology	22930	RAB3GAP1	ORPHA:1387
HP:0005922	Abnormal hand morphology	50945	TBX22	ORPHA:921
HP:0005922	Abnormal hand morphology	3265	HRAS	ORPHA:3071
HP:0005922	Abnormal hand morphology	3977	LIFR	OMIM:601559
HP:0005922	Abnormal hand morphology	2201	FBN2	OMIM:121050
HP:0005922	Abnormal hand morphology	6299	SALL1	ORPHA:857
HP:0005922	Abnormal hand morphology	51339	DACT1	ORPHA:857
HP:0005922	Abnormal hand morphology	389827	MYMK	ORPHA:1358
HP:0005922	Abnormal hand morphology	101929726	MYMX	ORPHA:1358
HP:0005922	Abnormal hand morphology	8260	NAA10	OMIM:309800
HP:0005922	Abnormal hand morphology	546	ATRX	OMIM:309580
HP:0005922	Abnormal hand morphology	546	ATRX	OMIM:301040
HP:0005922	Abnormal hand morphology	84100	ARL6	OMIM:209900
HP:0005922	Abnormal hand morphology	79140	CCDC28B	OMIM:209900
HP:0005922	Abnormal hand morphology	582	BBS1	OMIM:209900
HP:0005922	Abnormal hand morphology	55764	IFT122	OMIM:218330
HP:0005922	Abnormal hand morphology	257	ALX3	OMIM:136760
HP:0005922	Abnormal hand morphology	65267	WNK3	OMIM:309610
HP:0005922	Abnormal hand morphology	673	BRAF	OMIM:163950
HP:0005922	Abnormal hand morphology	5604	MAP2K1	OMIM:163950
HP:0005922	Abnormal hand morphology	5781	PTPN11	OMIM:163950
HP:0005922	Abnormal hand morphology	26227	PHGDH	OMIM:256520
HP:0005922	Abnormal hand morphology	81857	MED25	ORPHA:464738
HP:0005922	Abnormal hand morphology	80207	OPA3	ORPHA:67036
HP:0005922	Abnormal hand morphology	6469	SHH	ORPHA:93321
HP:0005922	Abnormal hand morphology	55906	ZC4H2	OMIM:301041
HP:0005922	Abnormal hand morphology	55131	RBM28	ORPHA:157954
HP:0005922	Abnormal hand morphology	55131	RBM28	OMIM:612079
HP:0005922	Abnormal hand morphology	4123	MAN2C1	OMIM:619775
HP:0005922	Abnormal hand morphology	57211	ADGRG6	OMIM:616503
HP:0005922	Abnormal hand morphology	9839	ZEB2	ORPHA:261537
HP:0005922	Abnormal hand morphology	9839	ZEB2	ORPHA:261552
HP:0005922	Abnormal hand morphology	79796	ALG9	ORPHA:79328
HP:0005922	Abnormal hand morphology	79796	ALG9	OMIM:263210
HP:0005922	Abnormal hand morphology	22858	CILK1	OMIM:612651
HP:0005922	Abnormal hand morphology	79633	FAT4	OMIM:615546
HP:0005922	Abnormal hand morphology	118924	FRA10AC1	OMIM:620113
HP:0005922	Abnormal hand morphology	3911	LAMA5	OMIM:620076
HP:0005922	Abnormal hand morphology	2077	ERF	OMIM:617180
HP:0005922	Abnormal hand morphology	10265	IRX5	OMIM:611174
HP:0005922	Abnormal hand morphology	50814	NSDHL	OMIM:308050
HP:0005922	Abnormal hand morphology	1123	CHN1	ORPHA:233
HP:0005922	Abnormal hand morphology	5925	RB1	ORPHA:1587
HP:0005922	Abnormal hand morphology	80144	FRAS1	OMIM:219000
HP:0005922	Abnormal hand morphology	5053	PAH	ORPHA:2209
HP:0005922	Abnormal hand morphology	998	CDC42	ORPHA:487796
HP:0005922	Abnormal hand morphology	998	CDC42	OMIM:616737
HP:0005922	Abnormal hand morphology	8314	BAP1	OMIM:619762
HP:0005922	Abnormal hand morphology	5965	RECQL	OMIM:620370
HP:0005922	Abnormal hand morphology	4247	MGAT2	OMIM:212066
HP:0005922	Abnormal hand morphology	10084	PQBP1	OMIM:309500
HP:0005922	Abnormal hand morphology	9898	UBAP2L	OMIM:620494
HP:0005922	Abnormal hand morphology	3756	KCNH1	OMIM:611816
HP:0005922	Abnormal hand morphology	64682	ANAPC1	ORPHA:221008
HP:0005922	Abnormal hand morphology	2254	FGF9	OMIM:612961
HP:0005922	Abnormal hand morphology	7291	TWIST1	ORPHA:35099
HP:0005922	Abnormal hand morphology	6938	TCF12	ORPHA:35099
HP:0005922	Abnormal hand morphology	7545	ZIC1	ORPHA:35099
HP:0005922	Abnormal hand morphology	4621	MYH3	OMIM:178110
HP:0005922	Abnormal hand morphology	85301	COL27A1	OMIM:615155
HP:0005922	Abnormal hand morphology	57167	SALL4	OMIM:147750
HP:0005922	Abnormal hand morphology	9939	RBM8A	OMIM:274000
HP:0005922	Abnormal hand morphology	22856	CHSY1	OMIM:605282
HP:0005922	Abnormal hand morphology	5077	PAX3	OMIM:148820
HP:0005922	Abnormal hand morphology	658	BMPR1B	OMIM:609441
HP:0005922	Abnormal hand morphology	3239	HOXD13	OMIM:186300
HP:0005922	Abnormal hand morphology	6885	MAP3K7	OMIM:157800
HP:0005922	Abnormal hand morphology	2192	FBLN1	OMIM:608180
HP:0005922	Abnormal hand morphology	126792	B3GALT6	OMIM:615349
HP:0005922	Abnormal hand morphology	126792	B3GALT6	OMIM:271640
HP:0005922	Abnormal hand morphology	4841	NONO	ORPHA:466791
HP:0005922	Abnormal hand morphology	1075	CTSC	OMIM:245010
HP:0005922	Abnormal hand morphology	10651	MTX2	OMIM:619127
HP:0005922	Abnormal hand morphology	23586	RIGI	OMIM:616298
HP:0005922	Abnormal hand morphology	25923	ATL3	OMIM:615632
HP:0005922	Abnormal hand morphology	427	ASAH1	OMIM:228000
HP:0005922	Abnormal hand morphology	340419	RSPO2	OMIM:618022
HP:0005922	Abnormal hand morphology	8452	CUL3	OMIM:619239
HP:0005922	Abnormal hand morphology	5718	PSMD12	OMIM:617516
HP:0005922	Abnormal hand morphology	23028	KDM1A	OMIM:616728
HP:0005922	Abnormal hand morphology	23028	KDM1A	ORPHA:477993
HP:0005922	Abnormal hand morphology	29998	BICRA	OMIM:619325
HP:0005922	Abnormal hand morphology	1723	DHODH	OMIM:263750
HP:0005922	Abnormal hand morphology	2033	EP300	OMIM:180849
HP:0005922	Abnormal hand morphology	1387	CREBBP	OMIM:180849
HP:0005922	Abnormal hand morphology	80036	TRPM3	OMIM:620224
HP:0005922	Abnormal hand morphology	170691	ADAMTS17	ORPHA:3449
HP:0005922	Abnormal hand morphology	4053	LTBP2	ORPHA:3449
HP:0005922	Abnormal hand morphology	26100	WIPI2	OMIM:618453
HP:0005922	Abnormal hand morphology	10269	ZMPSTE24	ORPHA:740
HP:0005922	Abnormal hand morphology	10269	ZMPSTE24	OMIM:608612
HP:0005922	Abnormal hand morphology	10269	ZMPSTE24	OMIM:275210
HP:0005922	Abnormal hand morphology	10269	ZMPSTE24	ORPHA:90154
HP:0005922	Abnormal hand morphology	8815	BANF1	OMIM:614008
HP:0005922	Abnormal hand morphology	9488	PIGB	OMIM:618580
HP:0005922	Abnormal hand morphology	10617	STAMBP	OMIM:614261
HP:0005922	Abnormal hand morphology	2335	FN1	ORPHA:93315
HP:0005922	Abnormal hand morphology	10973	ASCC3	OMIM:620700
HP:0005922	Abnormal hand morphology	51412	ACTL6B	OMIM:618470
HP:0005922	Abnormal hand morphology	3764	KCNJ8	ORPHA:1517
HP:0005922	Abnormal hand morphology	10060	ABCC9	ORPHA:1517
HP:0005922	Abnormal hand morphology	112752	IFT43	ORPHA:1515
HP:0005922	Abnormal hand morphology	24140	FTSJ1	OMIM:309549
HP:0005922	Abnormal hand morphology	2475	MTOR	OMIM:616638
HP:0005922	Abnormal hand morphology	9419	CRIPT	OMIM:615789
HP:0005922	Abnormal hand morphology	3782	KCNN3	OMIM:618658
HP:0005922	Abnormal hand morphology	54	ACP5	ORPHA:1855
HP:0005922	Abnormal hand morphology	5281	PIGF	OMIM:619356
HP:0005922	Abnormal hand morphology	2677	GGCX	OMIM:277450
HP:0005922	Abnormal hand morphology	26137	ZBTB20	OMIM:259050
HP:0005922	Abnormal hand morphology	60401	EDA2R	ORPHA:181
HP:0005922	Abnormal hand morphology	1896	EDA	ORPHA:181
HP:0005922	Abnormal hand morphology	182	JAG1	OMIM:118450
HP:0005922	Abnormal hand morphology	2703	GJA8	OMIM:612474
HP:0005922	Abnormal hand morphology	2702	GJA5	OMIM:612474
HP:0005922	Abnormal hand morphology	2255	FGF10	ORPHA:2363
HP:0005922	Abnormal hand morphology	6608	SMO	OMIM:601707
HP:0005922	Abnormal hand morphology	71	ACTG1	ORPHA:2995
HP:0005922	Abnormal hand morphology	60	ACTB	ORPHA:2995
HP:0005922	Abnormal hand morphology	6472	SHMT2	OMIM:619121
HP:0005922	Abnormal hand morphology	6138	RPL15	ORPHA:124
HP:0005922	Abnormal hand morphology	6224	RPS20	ORPHA:124
HP:0005922	Abnormal hand morphology	6165	RPL35A	ORPHA:124
HP:0005922	Abnormal hand morphology	6132	RPL8	ORPHA:124
HP:0005922	Abnormal hand morphology	6223	RPS19	ORPHA:124
HP:0005922	Abnormal hand morphology	6223	RPS19	OMIM:105650
HP:0005922	Abnormal hand morphology	6232	RPS27	ORPHA:124
HP:0005922	Abnormal hand morphology	6160	RPL31	ORPHA:124
HP:0005922	Abnormal hand morphology	6201	RPS7	ORPHA:124
HP:0005922	Abnormal hand morphology	6155	RPL27	ORPHA:124
HP:0005922	Abnormal hand morphology	6234	RPS28	ORPHA:124
HP:0005922	Abnormal hand morphology	6135	RPL11	ORPHA:124
HP:0005922	Abnormal hand morphology	6229	RPS24	ORPHA:124
HP:0005922	Abnormal hand morphology	6125	RPL5	ORPHA:124
HP:0005922	Abnormal hand morphology	6204	RPS10	ORPHA:124
HP:0005922	Abnormal hand morphology	2623	GATA1	ORPHA:124
HP:0005922	Abnormal hand morphology	6133	RPL9	ORPHA:124
HP:0005922	Abnormal hand morphology	6231	RPS26	ORPHA:124
HP:0005922	Abnormal hand morphology	11224	RPL35	ORPHA:124
HP:0005922	Abnormal hand morphology	6218	RPS17	ORPHA:124
HP:0005922	Abnormal hand morphology	6210	RPS15A	ORPHA:124
HP:0005922	Abnormal hand morphology	90121	TSR2	ORPHA:124
HP:0005922	Abnormal hand morphology	6141	RPL18	ORPHA:124
HP:0005922	Abnormal hand morphology	6235	RPS29	ORPHA:124
HP:0005922	Abnormal hand morphology	51816	ADA2	ORPHA:124
HP:0005922	Abnormal hand morphology	57122	NUP107	OMIM:616730
HP:0005922	Abnormal hand morphology	57122	NUP107	OMIM:618348
HP:0005922	Abnormal hand morphology	10992	SF3B2	OMIM:164210
HP:0005922	Abnormal hand morphology	22827	PUF60	ORPHA:508498
HP:0005922	Abnormal hand morphology	79848	CSPP1	ORPHA:397715
HP:0005922	Abnormal hand morphology	9786	KIAA0586	ORPHA:397715
HP:0005922	Abnormal hand morphology	4883	NPR3	OMIM:619543
HP:0005922	Abnormal hand morphology	2778	GNAS	ORPHA:79443
HP:0005922	Abnormal hand morphology	90	ACVR1	OMIM:135100
HP:0005922	Abnormal hand morphology	6091	ROBO1	OMIM:620305
HP:0005922	Abnormal hand morphology	6662	SOX9	OMIM:114290
HP:0005922	Abnormal hand morphology	650	BMP2	ORPHA:93396
HP:0005922	Abnormal hand morphology	55612	FERMT1	ORPHA:2908
HP:0005922	Abnormal hand morphology	94005	PIGS	OMIM:618143
HP:0005922	Abnormal hand morphology	6736	SRY	ORPHA:1772
HP:0005922	Abnormal hand morphology	8642	DCHS1	OMIM:601390
HP:0005922	Abnormal hand morphology	26224	FBXL3	OMIM:606220
HP:0005922	Abnormal hand morphology	1763	DNA2	OMIM:620819
HP:0005922	Abnormal hand morphology	55733	HHAT	OMIM:600092
HP:0005922	Abnormal hand morphology	55733	HHAT	ORPHA:1422
HP:0005922	Abnormal hand morphology	114803	MYSM1	ORPHA:508542
HP:0005922	Abnormal hand morphology	149775	GNAS-AS1	OMIM:603233
HP:0005922	Abnormal hand morphology	8675	STX16	OMIM:603233
HP:0005922	Abnormal hand morphology	117581	TWIST2	OMIM:200110
HP:0005922	Abnormal hand morphology	10686	CLDN16	OMIM:248250
HP:0005922	Abnormal hand morphology	10847	SRCAP	ORPHA:2044
HP:0005922	Abnormal hand morphology	5744	PTHLH	ORPHA:93387
HP:0005922	Abnormal hand morphology	5744	PTHLH	OMIM:613382
HP:0005922	Abnormal hand morphology	64175	P3H1	OMIM:610915
HP:0005922	Abnormal hand morphology	54496	PRMT7	OMIM:617157
HP:0005922	Abnormal hand morphology	157680	VPS13B	OMIM:216550
HP:0005922	Abnormal hand morphology	5139	PDE3A	OMIM:112410
HP:0005922	Abnormal hand morphology	5139	PDE3A	ORPHA:1276
HP:0005922	Abnormal hand morphology	29980	DONSON	OMIM:617604
HP:0005922	Abnormal hand morphology	5593	PRKG2	OMIM:619636
HP:0005922	Abnormal hand morphology	10283	CWC27	OMIM:250410
HP:0005922	Abnormal hand morphology	10283	CWC27	ORPHA:166035
HP:0005922	Abnormal hand morphology	4810	NHS	ORPHA:627
HP:0005922	Abnormal hand morphology	5130	PCYT1A	ORPHA:85167
HP:0005922	Abnormal hand morphology	5130	PCYT1A	OMIM:608940
HP:0005922	Abnormal hand morphology	51098	IFT52	OMIM:617102
HP:0005922	Abnormal hand morphology	55252	ASXL2	OMIM:617190
HP:0005922	Abnormal hand morphology	3930	LBR	OMIM:215140
HP:0005922	Abnormal hand morphology	5264	PHYH	ORPHA:773
HP:0005922	Abnormal hand morphology	5191	PEX7	ORPHA:773
HP:0005922	Abnormal hand morphology	23483	TGDS	OMIM:616145
HP:0005922	Abnormal hand morphology	5498	PPOX	OMIM:620483
HP:0005922	Abnormal hand morphology	9775	EIF4A3	OMIM:268305
HP:0005922	Abnormal hand morphology	54101	RIPK4	OMIM:263650
HP:0005922	Abnormal hand morphology	83452	RAB33B	OMIM:615222
HP:0005922	Abnormal hand morphology	91252	SLC39A13	OMIM:612350
HP:0005922	Abnormal hand morphology	25871	NEPRO	OMIM:618853
HP:0005922	Abnormal hand morphology	90417	KNSTRN	OMIM:613328
HP:0005922	Abnormal hand morphology	5293	PIK3CD	OMIM:613328
HP:0005922	Abnormal hand morphology	56992	KIF15	ORPHA:261323
HP:0005922	Abnormal hand morphology	26160	IFT172	OMIM:615630
HP:0005922	Abnormal hand morphology	375056	MIA3	OMIM:619269
HP:0005922	Abnormal hand morphology	545	ATR	OMIM:210600
HP:0005922	Abnormal hand morphology	6399	TRAPPC2	ORPHA:93284
HP:0005922	Abnormal hand morphology	2074	ERCC6	OMIM:133540
HP:0005922	Abnormal hand morphology	1161	ERCC8	OMIM:216400
HP:0005922	Abnormal hand morphology	415	ARSL	ORPHA:79345
HP:0005922	Abnormal hand morphology	91949	COG7	OMIM:608779
HP:0005922	Abnormal hand morphology	80347	COASY	OMIM:618266
HP:0005922	Abnormal hand morphology	50515	CHST11	OMIM:618167
HP:0005922	Abnormal hand morphology	54809	SAMD9	OMIM:617053
HP:0005922	Abnormal hand morphology	285489	DOK7	OMIM:618389
HP:0005922	Abnormal hand morphology	348180	CTU2	OMIM:618142
HP:0005922	Abnormal hand morphology	1272	CNTN1	OMIM:612540
HP:0005922	Abnormal hand morphology	256297	PTF1A	OMIM:609069
HP:0005922	Abnormal hand morphology	79087	ALG12	ORPHA:79324
HP:0005922	Abnormal hand morphology	55593	OTUD5	OMIM:301056
HP:0005922	Abnormal hand morphology	129285	PPP1R21	OMIM:619383
HP:0005922	Abnormal hand morphology	91754	NEK9	OMIM:617022
HP:0005922	Abnormal hand morphology	8567	MADD	OMIM:619004
HP:0005922	Abnormal hand morphology	5297	PI4KA	OMIM:616531
HP:0005922	Abnormal hand morphology	5297	PI4KA	OMIM:619708
HP:0005922	Abnormal hand morphology	1822	ATN1	OMIM:618494
HP:0005922	Abnormal hand morphology	8985	PLOD3	OMIM:612394
HP:0005922	Abnormal hand morphology	5591	PRKDC	OMIM:615966
HP:0005922	Abnormal hand morphology	9772	TMEM94	OMIM:618316
HP:0005922	Abnormal hand morphology	27145	FILIP1	OMIM:620775
HP:0005922	Abnormal hand morphology	2122	MECOM	OMIM:616738
HP:0005922	Abnormal hand morphology	26040	SETBP1	ORPHA:798
HP:0005922	Abnormal hand morphology	9321	TRIP11	OMIM:200600
HP:0005922	Abnormal hand morphology	10216	PRG4	OMIM:208250
HP:0005922	Abnormal hand morphology	10804	GJB6	ORPHA:189
HP:0005922	Abnormal hand morphology	654	BMP6	ORPHA:465508
HP:0005922	Abnormal hand morphology	3077	HFE	ORPHA:465508
HP:0005922	Abnormal hand morphology	6775	STAT4	ORPHA:85408
HP:0005922	Abnormal hand morphology	3560	IL2RB	ORPHA:85408
HP:0005922	Abnormal hand morphology	79722	ANKRD55	ORPHA:85408
HP:0005922	Abnormal hand morphology	26191	PTPN22	ORPHA:85408
HP:0005922	Abnormal hand morphology	919	CD247	ORPHA:85408
HP:0005922	Abnormal hand morphology	3559	IL2RA	ORPHA:85408
HP:0005922	Abnormal hand morphology	5771	PTPN2	ORPHA:85408
HP:0005922	Abnormal hand morphology	10466	COG5	ORPHA:263487
HP:0005922	Abnormal hand morphology	8092	ALX1	ORPHA:306542
HP:0005922	Abnormal hand morphology	150468	CKAP2L	OMIM:272440
HP:0005922	Abnormal hand morphology	2036	EPB41L1	OMIM:614257
HP:0005922	Abnormal hand morphology	1747	DLX3	ORPHA:3352
HP:0005922	Abnormal hand morphology	26834	RNU4-2	OMIM:620851
HP:0005922	Abnormal hand morphology	93986	FOXP2	ORPHA:251061
HP:0005922	Abnormal hand morphology	3767	KCNJ11	ORPHA:79134
HP:0005922	Abnormal hand morphology	79731	NARS2	ORPHA:79134
HP:0005922	Abnormal hand morphology	6833	ABCC8	ORPHA:79134
HP:0005922	Abnormal hand morphology	8243	SMC1A	OMIM:300590
HP:0005922	Abnormal hand morphology	8243	SMC1A	OMIM:301044
HP:0005922	Abnormal hand morphology	8243	SMC1A	ORPHA:3095
HP:0005922	Abnormal hand morphology	8243	SMC1A	ORPHA:199
HP:0005922	Abnormal hand morphology	388015	RTL1	ORPHA:254531
HP:0005922	Abnormal hand morphology	388015	RTL1	ORPHA:254525
HP:0005922	Abnormal hand morphology	388015	RTL1	ORPHA:96184
HP:0005922	Abnormal hand morphology	8788	DLK1	ORPHA:254531
HP:0005922	Abnormal hand morphology	8788	DLK1	ORPHA:254525
HP:0005922	Abnormal hand morphology	8788	DLK1	ORPHA:96184
HP:0005922	Abnormal hand morphology	55384	MEG3	ORPHA:254531
HP:0005922	Abnormal hand morphology	55384	MEG3	ORPHA:254525
HP:0005922	Abnormal hand morphology	55384	MEG3	ORPHA:96184
HP:0005922	Abnormal hand morphology	26128	KIFBP	OMIM:609460
HP:0005922	Abnormal hand morphology	9698	PUM1	OMIM:617931
HP:0005922	Abnormal hand morphology	9698	PUM1	OMIM:620719
HP:0005922	Abnormal hand morphology	23394	ADNP	OMIM:615873
HP:0005922	Abnormal hand morphology	23314	SATB2	ORPHA:251028
HP:0005922	Abnormal hand morphology	781	CACNA2D1	OMIM:620149
HP:0005922	Abnormal hand morphology	123263	MTFMT	OMIM:614947
HP:0005922	Abnormal hand morphology	84320	ACBD6	OMIM:620785
HP:0005922	Abnormal hand morphology	27125	AFF4	ORPHA:444077
HP:0005922	Abnormal hand morphology	6792	CDKL5	ORPHA:3095
HP:0005922	Abnormal hand morphology	6792	CDKL5	OMIM:300672
HP:0005922	Abnormal hand morphology	22854	NTNG1	ORPHA:3095
HP:0005922	Abnormal hand morphology	9568	GABBR2	ORPHA:3095
HP:0005922	Abnormal hand morphology	9568	GABBR2	OMIM:617903
HP:0005922	Abnormal hand morphology	4204	MECP2	ORPHA:3095
HP:0005922	Abnormal hand morphology	4204	MECP2	OMIM:300055
HP:0005922	Abnormal hand morphology	55869	HDAC8	OMIM:300882
HP:0005922	Abnormal hand morphology	55869	HDAC8	ORPHA:199
HP:0005922	Abnormal hand morphology	55869	HDAC8	ORPHA:3459
HP:0005922	Abnormal hand morphology	79868	ALG13	OMIM:300884
HP:0005922	Abnormal hand morphology	1062	CENPE	OMIM:616051
HP:0005922	Abnormal hand morphology	6651	SON	OMIM:617140
HP:0005922	Abnormal hand morphology	6492	SIM1	ORPHA:398079
HP:0005922	Abnormal hand morphology	55784	MCTP2	ORPHA:1596
HP:0005922	Abnormal hand morphology	8085	KMT2D	ORPHA:2322
HP:0005922	Abnormal hand morphology	7403	KDM6A	ORPHA:2322
HP:0005922	Abnormal hand morphology	9382	COG1	OMIM:611209
HP:0005922	Abnormal hand morphology	9126	SMC3	OMIM:610759
HP:0005922	Abnormal hand morphology	9126	SMC3	ORPHA:199
HP:0005922	Abnormal hand morphology	4297	KMT2A	OMIM:605130
HP:0005922	Abnormal hand morphology	6638	SNRPN	ORPHA:177904
HP:0005922	Abnormal hand morphology	6638	SNRPN	ORPHA:177901
HP:0005922	Abnormal hand morphology	6638	SNRPN	ORPHA:177910
HP:0005922	Abnormal hand morphology	6638	SNRPN	ORPHA:177907
HP:0005922	Abnormal hand morphology	6638	SNRPN	ORPHA:98754
HP:0005922	Abnormal hand morphology	4692	NDN	ORPHA:177904
HP:0005922	Abnormal hand morphology	4692	NDN	ORPHA:177901
HP:0005922	Abnormal hand morphology	4692	NDN	ORPHA:177910
HP:0005922	Abnormal hand morphology	4692	NDN	ORPHA:98754
HP:0005922	Abnormal hand morphology	4948	OCA2	ORPHA:177904
HP:0005922	Abnormal hand morphology	4948	OCA2	ORPHA:177901
HP:0005922	Abnormal hand morphology	4948	OCA2	ORPHA:98754
HP:0005922	Abnormal hand morphology	2590	GALNT2	OMIM:618885
HP:0005922	Abnormal hand morphology	3064	HTT	OMIM:617435
HP:0005922	Abnormal hand morphology	10381	TUBB3	ORPHA:300570
HP:0005922	Abnormal hand morphology	1147	CHUK	OMIM:619339
HP:0005922	Abnormal hand morphology	3248	HPGD	ORPHA:2796
HP:0005922	Abnormal hand morphology	6578	SLCO2A1	ORPHA:2796
HP:0005922	Abnormal hand morphology	7703	PCGF2	OMIM:618371
HP:0005922	Abnormal hand morphology	6045	RNF2	OMIM:619460
HP:0005922	Abnormal hand morphology	1501	CTNND2	ORPHA:281
HP:0005922	Abnormal hand morphology	9037	SEMA5A	ORPHA:281
HP:0005922	Abnormal hand morphology	23384	SPECC1L	OMIM:145420
HP:0005922	Abnormal hand morphology	6304	SATB1	OMIM:619229
HP:0005922	Abnormal hand morphology	6602	SMARCD1	OMIM:618779
HP:0005922	Abnormal hand morphology	1974	EIF4A2	OMIM:620455
HP:0005922	Abnormal hand morphology	2697	GJA1	OMIM:257850
HP:0005922	Abnormal hand morphology	6878	TAF6	ORPHA:199
HP:0005922	Abnormal hand morphology	25836	NIPBL	ORPHA:199
HP:0005922	Abnormal hand morphology	25836	NIPBL	OMIM:122470
HP:0005922	Abnormal hand morphology	5885	RAD21	ORPHA:199
HP:0005922	Abnormal hand morphology	3981	LIG4	ORPHA:235
HP:0005922	Abnormal hand morphology	54888	NSUN2	ORPHA:235
HP:0005922	Abnormal hand morphology	55768	NGLY1	OMIM:615273
HP:0005922	Abnormal hand morphology	7874	USP7	ORPHA:500055
HP:0005922	Abnormal hand morphology	8493	PPM1D	OMIM:617450
HP:0005922	Abnormal hand morphology	8558	CDK10	OMIM:617694
HP:0005922	Abnormal hand morphology	3481	IGF2	OMIM:616489
HP:0005922	Abnormal hand morphology	9894	TELO2	ORPHA:488642
HP:0005922	Abnormal hand morphology	80232	WDR26	OMIM:617616
HP:0005922	Abnormal hand morphology	259232	NALCN	ORPHA:371364
HP:0005922	Abnormal hand morphology	285175	UNC80	ORPHA:371364
HP:0005922	Abnormal hand morphology	7486	WRN	ORPHA:902
HP:0005922	Abnormal hand morphology	55343	SLC35C1	OMIM:266265
HP:0005922	Abnormal hand morphology	23556	PIGN	ORPHA:280633
HP:0005922	Abnormal hand morphology	3800	KIF5C	OMIM:615282
HP:0005922	Abnormal hand morphology	4849	CNOT3	OMIM:618672
HP:0005922	Abnormal hand morphology	81887	LAS1L	ORPHA:3459
HP:0005922	Abnormal hand morphology	23162	MAPK8IP3	OMIM:618443
HP:0005922	Abnormal hand morphology	2332	FMR1	ORPHA:261483
HP:0005922	Abnormal hand morphology	2186	BPTF	OMIM:617755
HP:0005922	Abnormal hand morphology	388662	SLC6A17	OMIM:616269
HP:0005922	Abnormal hand morphology	23219	FBXO28	OMIM:619777
HP:0005922	Abnormal hand morphology	5557	PRIM1	OMIM:620005
HP:0005922	Abnormal hand morphology	64131	XYLT1	ORPHA:1425
HP:0005922	Abnormal hand morphology	124583	CANT1	ORPHA:1425
HP:0005922	Abnormal hand morphology	55790	CSGALNACT1	ORPHA:1425
HP:0005922	Abnormal hand morphology	1513	CTSK	ORPHA:763
HP:0005922	Abnormal hand morphology	406932	MIR140	OMIM:618618
HP:0005922	Abnormal hand morphology	10664	CTCF	OMIM:615502
HP:0005922	Abnormal hand morphology	25886	POC1A	OMIM:614813
HP:0005922	Abnormal hand morphology	78987	CRELD1	OMIM:620771
HP:0005922	Abnormal hand morphology	1801	DPH1	ORPHA:459061
HP:0005922	Abnormal hand morphology	1802	DPH2	ORPHA:459061
HP:0005922	Abnormal hand morphology	3762	KCNJ5	ORPHA:37553
HP:0005922	Abnormal hand morphology	84181	CHD6	ORPHA:2108
HP:0005922	Abnormal hand morphology	1281	COL3A1	ORPHA:2500
HP:0005922	Abnormal hand morphology	10075	HUWE1	OMIM:309590
HP:0005923	Abnormal hand metaphysis morphology	5251	PHEX	OMIM:307800
HP:0005923	Abnormal hand metaphysis morphology	1300	COL10A1	ORPHA:174
HP:0005924	Abnormal hand epiphysis morphology	90459	ERI1	OMIM:620662
HP:0005924	Abnormal hand epiphysis morphology	579	NKX3-2	OMIM:613330
HP:0005924	Abnormal hand epiphysis morphology	5447	POR	ORPHA:95699
HP:0005924	Abnormal hand epiphysis morphology	1280	COL2A1	OMIM:619248
HP:0005924	Abnormal hand epiphysis morphology	132884	EVC2	OMIM:225500
HP:0005924	Abnormal hand epiphysis morphology	2121	EVC	OMIM:225500
HP:0005924	Abnormal hand epiphysis morphology	5573	PRKAR1A	ORPHA:950
HP:0005924	Abnormal hand epiphysis morphology	5144	PDE4D	ORPHA:950
HP:0005924	Abnormal hand epiphysis morphology	3549	IHH	OMIM:607778
HP:0005924	Abnormal hand epiphysis morphology	3549	IHH	ORPHA:63446
HP:0005924	Abnormal hand epiphysis morphology	633	BGN	OMIM:300106
HP:0005924	Abnormal hand epiphysis morphology	2879	GPX4	OMIM:250220
HP:0005924	Abnormal hand epiphysis morphology	4256	MGP	OMIM:245150
HP:0005924	Abnormal hand epiphysis morphology	6299	SALL1	OMIM:107480
HP:0005924	Abnormal hand epiphysis morphology	1297	COL9A1	ORPHA:166002
HP:0005924	Abnormal hand epiphysis morphology	1298	COL9A2	ORPHA:166002
HP:0005924	Abnormal hand epiphysis morphology	1299	COL9A3	ORPHA:166002
HP:0005924	Abnormal hand epiphysis morphology	54928	BPNT2	OMIM:614078
HP:0005924	Abnormal hand epiphysis morphology	25839	COG4	OMIM:618150
HP:0005924	Abnormal hand epiphysis morphology	5116	PCNT	OMIM:210720
HP:0005924	Abnormal hand epiphysis morphology	6197	RPS6KA3	ORPHA:192
HP:0005924	Abnormal hand epiphysis morphology	7468	NSD2	OMIM:194190
HP:0005924	Abnormal hand epiphysis morphology	10815	CPLX1	OMIM:194190
HP:0005924	Abnormal hand epiphysis morphology	1487	CTBP1	OMIM:194190
HP:0005924	Abnormal hand epiphysis morphology	53834	FGFRL1	OMIM:194190
HP:0005924	Abnormal hand epiphysis morphology	3954	LETM1	OMIM:194190
HP:0005924	Abnormal hand epiphysis morphology	8200	GDF5	OMIM:113100
HP:0005924	Abnormal hand epiphysis morphology	658	BMPR1B	ORPHA:93384
HP:0005924	Abnormal hand epiphysis morphology	3756	KCNH1	OMIM:611816
HP:0005924	Abnormal hand epiphysis morphology	4883	NPR3	OMIM:619543
HP:0005924	Abnormal hand epiphysis morphology	59341	TRPV4	ORPHA:93314
HP:0005924	Abnormal hand epiphysis morphology	54808	DYM	OMIM:223800
HP:0005924	Abnormal hand epiphysis morphology	4882	NPR2	OMIM:602875
HP:0005924	Abnormal hand epiphysis morphology	56992	KIF15	ORPHA:261323
HP:0005924	Abnormal hand epiphysis morphology	26160	IFT172	OMIM:615630
HP:0005924	Abnormal hand epiphysis morphology	4750	NEK1	ORPHA:2751
HP:0005924	Abnormal hand epiphysis morphology	2131	EXT1	ORPHA:502
HP:0005924	Abnormal hand epiphysis morphology	5885	RAD21	ORPHA:502
HP:0005924	Abnormal hand epiphysis morphology	7227	TRPS1	ORPHA:502
HP:0005924	Abnormal hand epiphysis morphology	10847	SRCAP	OMIM:136140
HP:0005924	Abnormal hand epiphysis morphology	9742	IFT140	OMIM:617781
HP:0005924	Abnormal hand epiphysis morphology	9742	IFT140	OMIM:266920
HP:0005924	Abnormal hand epiphysis morphology	860	RUNX2	OMIM:119600
HP:0005924	Abnormal hand epiphysis morphology	9321	TRIP11	OMIM:184260
HP:0005924	Abnormal hand epiphysis morphology	375056	MIA3	OMIM:619269
HP:0005924	Abnormal hand epiphysis morphology	9451	EIF2AK3	OMIM:226980
HP:0005924	Abnormal hand epiphysis morphology	51098	IFT52	OMIM:617102
HP:0005924	Abnormal hand epiphysis morphology	2261	FGFR3	OMIM:602849
HP:0005924	Abnormal hand epiphysis morphology	2316	FLNA	OMIM:309350
HP:0005924	Abnormal hand epiphysis morphology	2316	FLNA	ORPHA:2484
HP:0005924	Abnormal hand epiphysis morphology	545	ATR	OMIM:210600
HP:0005924	Abnormal hand epiphysis morphology	406932	MIR140	OMIM:618618
HP:0005924	Abnormal hand epiphysis morphology	6023	RMRP	OMIM:250460
HP:0005924	Abnormal hand epiphysis morphology	6399	TRAPPC2	ORPHA:93284
HP:0005924	Abnormal hand epiphysis morphology	2074	ERCC6	OMIM:133540
HP:0005924	Abnormal hand epiphysis morphology	1161	ERCC8	OMIM:216400
HP:0005924	Abnormal hand epiphysis morphology	4796	TONSL	ORPHA:93357
HP:0005924	Abnormal hand epiphysis morphology	1311	COMP	OMIM:177170
HP:0005924	Abnormal hand epiphysis morphology	28957	MRPS28	OMIM:618958
HP:0005924	Abnormal hand epiphysis morphology	415	ARSL	ORPHA:79345
HP:0005924	Abnormal hand epiphysis morphology	51715	RAB23	OMIM:201000
HP:0005927	Aplasia/hypoplasia involving bones of the hand	3835	KIF22	OMIM:603546
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9451	EIF2AK3	OMIM:226980
HP:0005927	Aplasia/hypoplasia involving bones of the hand	23233	EXOC6B	OMIM:618395
HP:0005927	Aplasia/hypoplasia involving bones of the hand	54187	NANS	OMIM:610442
HP:0005927	Aplasia/hypoplasia involving bones of the hand	79158	GNPTAB	OMIM:252600
HP:0005927	Aplasia/hypoplasia involving bones of the hand	79158	GNPTAB	OMIM:252500
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9939	RBM8A	OMIM:274000
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5832	ALDH18A1	OMIM:601162
HP:0005927	Aplasia/hypoplasia involving bones of the hand	8517	IKBKG	ORPHA:464
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5980	REV3L	ORPHA:570
HP:0005927	Aplasia/hypoplasia involving bones of the hand	23129	PLXND1	ORPHA:570
HP:0005927	Aplasia/hypoplasia involving bones of the hand	64327	LMBR1	OMIM:200500
HP:0005927	Aplasia/hypoplasia involving bones of the hand	64327	LMBR1	ORPHA:931
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1750	DLX6	ORPHA:2440
HP:0005927	Aplasia/hypoplasia involving bones of the hand	7979	SEM1	ORPHA:2440
HP:0005927	Aplasia/hypoplasia involving bones of the hand	8945	BTRC	ORPHA:2440
HP:0005927	Aplasia/hypoplasia involving bones of the hand	8626	TP63	ORPHA:2440
HP:0005927	Aplasia/hypoplasia involving bones of the hand	58513	EPS15L1	ORPHA:2440
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6468	FBXW4	ORPHA:2440
HP:0005927	Aplasia/hypoplasia involving bones of the hand	7480	WNT10B	ORPHA:2440
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1749	DLX5	ORPHA:2440
HP:0005927	Aplasia/hypoplasia involving bones of the hand	3516	RBPJ	ORPHA:974
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4851	NOTCH1	ORPHA:974
HP:0005927	Aplasia/hypoplasia involving bones of the hand	57514	ARHGAP31	ORPHA:974
HP:0005927	Aplasia/hypoplasia involving bones of the hand	57572	DOCK6	ORPHA:974
HP:0005927	Aplasia/hypoplasia involving bones of the hand	285203	EOGT	ORPHA:974
HP:0005927	Aplasia/hypoplasia involving bones of the hand	54567	DLL4	ORPHA:974
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6926	TBX3	ORPHA:3138
HP:0005927	Aplasia/hypoplasia involving bones of the hand	55636	CHD7	OMIM:214800
HP:0005927	Aplasia/hypoplasia involving bones of the hand	7021	TFAP2B	ORPHA:46627
HP:0005927	Aplasia/hypoplasia involving bones of the hand	51199	NIN	ORPHA:319675
HP:0005927	Aplasia/hypoplasia involving bones of the hand	51199	NIN	OMIM:614851
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2783	GNB2	OMIM:619503
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5932	RBBP8	OMIM:251255
HP:0005927	Aplasia/hypoplasia involving bones of the hand	3480	IGF1R	ORPHA:73273
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4921	DDR2	OMIM:271665
HP:0005927	Aplasia/hypoplasia involving bones of the hand	22827	PUF60	ORPHA:508498
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2245	FGD1	OMIM:305400
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2245	FGD1	ORPHA:915
HP:0005927	Aplasia/hypoplasia involving bones of the hand	22856	CHSY1	ORPHA:363417
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2879	GPX4	ORPHA:93317
HP:0005927	Aplasia/hypoplasia involving bones of the hand	124997	WDR81	OMIM:610185
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9759	HDAC4	ORPHA:1001
HP:0005927	Aplasia/hypoplasia involving bones of the hand	118429	ANTXR2	ORPHA:2176
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2261	FGFR3	ORPHA:53271
HP:0005927	Aplasia/hypoplasia involving bones of the hand	90459	ERI1	OMIM:620663
HP:0005927	Aplasia/hypoplasia involving bones of the hand	55777	MBD5	ORPHA:228402
HP:0005927	Aplasia/hypoplasia involving bones of the hand	55777	MBD5	OMIM:156200
HP:0005927	Aplasia/hypoplasia involving bones of the hand	100033413	SNORD116-1	OMIM:176270
HP:0005927	Aplasia/hypoplasia involving bones of the hand	8924	HERC2	OMIM:176270
HP:0005927	Aplasia/hypoplasia involving bones of the hand	23742	NPAP1	OMIM:176270
HP:0005927	Aplasia/hypoplasia involving bones of the hand	338433	SNORD115-1	OMIM:176270
HP:0005927	Aplasia/hypoplasia involving bones of the hand	54551	MAGEL2	OMIM:176270
HP:0005927	Aplasia/hypoplasia involving bones of the hand	7681	MKRN3	OMIM:176270
HP:0005927	Aplasia/hypoplasia involving bones of the hand	145624	PWAR1	OMIM:176270
HP:0005927	Aplasia/hypoplasia involving bones of the hand	3653	IPW	OMIM:176270
HP:0005927	Aplasia/hypoplasia involving bones of the hand	791114	PWRN1	OMIM:176270
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9401	RECQL4	OMIM:268400
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1302	COL11A2	OMIM:215150
HP:0005927	Aplasia/hypoplasia involving bones of the hand	55112	DYNC2I1	ORPHA:93271
HP:0005927	Aplasia/hypoplasia involving bones of the hand	57560	IFT80	ORPHA:93271
HP:0005927	Aplasia/hypoplasia involving bones of the hand	57539	WDR35	ORPHA:93271
HP:0005927	Aplasia/hypoplasia involving bones of the hand	79659	DYNC2H1	ORPHA:93271
HP:0005927	Aplasia/hypoplasia involving bones of the hand	89891	DYNC2I2	ORPHA:93271
HP:0005927	Aplasia/hypoplasia involving bones of the hand	613	BCR	ORPHA:261330
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1399	CRKL	ORPHA:261330
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5594	MAPK1	ORPHA:261330
HP:0005927	Aplasia/hypoplasia involving bones of the hand	23030	KDM4B	OMIM:619320
HP:0005927	Aplasia/hypoplasia involving bones of the hand	79639	TMEM53	OMIM:619727
HP:0005927	Aplasia/hypoplasia involving bones of the hand	55249	YY1AP1	ORPHA:79094
HP:0005927	Aplasia/hypoplasia involving bones of the hand	10982	MAPRE2	OMIM:616734
HP:0005927	Aplasia/hypoplasia involving bones of the hand	25782	RAB3GAP2	OMIM:212720
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4750	NEK1	OMIM:252100
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6023	RMRP	ORPHA:175
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6023	RMRP	OMIM:607095
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6023	RMRP	OMIM:250250
HP:0005927	Aplasia/hypoplasia involving bones of the hand	3549	IHH	ORPHA:63446
HP:0005927	Aplasia/hypoplasia involving bones of the hand	3549	IHH	OMIM:607778
HP:0005927	Aplasia/hypoplasia involving bones of the hand	3549	IHH	OMIM:112500
HP:0005927	Aplasia/hypoplasia involving bones of the hand	818	CAMK2G	OMIM:618522
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4998	ORC1	OMIM:224690
HP:0005927	Aplasia/hypoplasia involving bones of the hand	80204	FBXO11	OMIM:618089
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1778	DYNC1H1	OMIM:614563
HP:0005927	Aplasia/hypoplasia involving bones of the hand	23476	BRD4	OMIM:620568
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2200	FBN1	ORPHA:969
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2200	FBN1	OMIM:614185
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2200	FBN1	OMIM:102370
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4054	LTBP3	ORPHA:969
HP:0005927	Aplasia/hypoplasia involving bones of the hand	3759	KCNJ2	OMIM:170390
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2260	FGFR1	ORPHA:93258
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2260	FGFR1	OMIM:166250
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2263	FGFR2	ORPHA:93258
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5745	PTH1R	ORPHA:79106
HP:0005927	Aplasia/hypoplasia involving bones of the hand	222663	SCUBE3	OMIM:619184
HP:0005927	Aplasia/hypoplasia involving bones of the hand	80311	KLHL15	OMIM:300982
HP:0005927	Aplasia/hypoplasia involving bones of the hand	727857	BHLHA9	ORPHA:157801
HP:0005927	Aplasia/hypoplasia involving bones of the hand	10943	MSL3	OMIM:301032
HP:0005927	Aplasia/hypoplasia involving bones of the hand	633	BGN	OMIM:300106
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1301	COL11A1	OMIM:228520
HP:0005927	Aplasia/hypoplasia involving bones of the hand	55012	PPP2R3C	OMIM:618419
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5573	PRKAR1A	OMIM:101800
HP:0005927	Aplasia/hypoplasia involving bones of the hand	51715	RAB23	ORPHA:65759
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1954	MEGF8	ORPHA:65759
HP:0005927	Aplasia/hypoplasia involving bones of the hand	25942	SIN3A	OMIM:613406
HP:0005927	Aplasia/hypoplasia involving bones of the hand	64374	SIL1	ORPHA:559
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9487	PIGL	ORPHA:3474
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9244	CRLF1	OMIM:272430
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4000	LMNA	ORPHA:79474
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2316	FLNA	ORPHA:90650
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2316	FLNA	ORPHA:90652
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9241	NOG	ORPHA:3237
HP:0005927	Aplasia/hypoplasia involving bones of the hand	8200	GDF5	ORPHA:3237
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2254	FGF9	ORPHA:3237
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6885	MAP3K7	ORPHA:3238
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9321	TRIP11	ORPHA:166272
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9321	TRIP11	ORPHA:93299
HP:0005927	Aplasia/hypoplasia involving bones of the hand	538	ATP7A	ORPHA:198
HP:0005927	Aplasia/hypoplasia involving bones of the hand	59341	TRPV4	OMIM:184095
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6905	TBCE	OMIM:241410
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6905	TBCE	OMIM:244460
HP:0005927	Aplasia/hypoplasia involving bones of the hand	145173	B3GLCT	OMIM:261540
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1857	DVL3	ORPHA:3107
HP:0005927	Aplasia/hypoplasia involving bones of the hand	7474	WNT5A	ORPHA:3107
HP:0005927	Aplasia/hypoplasia involving bones of the hand	7474	WNT5A	OMIM:180700
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1855	DVL1	ORPHA:3107
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1855	DVL1	OMIM:180700
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2535	FZD2	ORPHA:3107
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2535	FZD2	ORPHA:93328
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9791	PTDSS1	ORPHA:2658
HP:0005927	Aplasia/hypoplasia involving bones of the hand	132884	EVC2	OMIM:193530
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2121	EVC	OMIM:193530
HP:0005927	Aplasia/hypoplasia involving bones of the hand	10013	HDAC6	ORPHA:163966
HP:0005927	Aplasia/hypoplasia involving bones of the hand	79753	SNIP1	OMIM:614501
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9719	ADAMTSL2	OMIM:231050
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4796	TONSL	ORPHA:93357
HP:0005927	Aplasia/hypoplasia involving bones of the hand	10236	HNRNPR	OMIM:620073
HP:0005927	Aplasia/hypoplasia involving bones of the hand	79718	TBL1XR1	OMIM:602342
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6595	SMARCA2	ORPHA:3051
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1298	COL9A2	OMIM:600204
HP:0005927	Aplasia/hypoplasia involving bones of the hand	3636	INPPL1	OMIM:258480
HP:0005927	Aplasia/hypoplasia involving bones of the hand	285590	SH3PXD2B	OMIM:249420
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4089	SMAD4	OMIM:139210
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4089	SMAD4	ORPHA:2588
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5159	PDGFRB	OMIM:601812
HP:0005927	Aplasia/hypoplasia involving bones of the hand	23522	KAT6B	ORPHA:85201
HP:0005927	Aplasia/hypoplasia involving bones of the hand	7204	TRIO	ORPHA:476126
HP:0005927	Aplasia/hypoplasia involving bones of the hand	3845	KRAS	ORPHA:3339
HP:0005927	Aplasia/hypoplasia involving bones of the hand	28957	MRPS28	OMIM:618958
HP:0005927	Aplasia/hypoplasia involving bones of the hand	23261	CAMTA1	OMIM:614756
HP:0005927	Aplasia/hypoplasia involving bones of the hand	8450	CUL4B	ORPHA:85293
HP:0005927	Aplasia/hypoplasia involving bones of the hand	25839	COG4	ORPHA:85172
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6925	TCF4	OMIM:610954
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4920	ROR2	OMIM:268310
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5295	PIK3R1	ORPHA:3163
HP:0005927	Aplasia/hypoplasia involving bones of the hand	8813	DPM1	OMIM:608799
HP:0005927	Aplasia/hypoplasia involving bones of the hand	10743	RAI1	OMIM:182290
HP:0005927	Aplasia/hypoplasia involving bones of the hand	8242	KDM5C	ORPHA:85279
HP:0005927	Aplasia/hypoplasia involving bones of the hand	89970	RSPRY1	ORPHA:457395
HP:0005927	Aplasia/hypoplasia involving bones of the hand	100151683	RNU4ATAC	ORPHA:2636
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1280	COL2A1	ORPHA:85166
HP:0005927	Aplasia/hypoplasia involving bones of the hand	51322	WAC	ORPHA:466950
HP:0005927	Aplasia/hypoplasia involving bones of the hand	147372	CCBE1	OMIM:235510
HP:0005927	Aplasia/hypoplasia involving bones of the hand	29123	ANKRD11	OMIM:148050
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2719	GPC3	OMIM:312870
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2239	GPC4	OMIM:312870
HP:0005927	Aplasia/hypoplasia involving bones of the hand	7227	TRPS1	OMIM:190351
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4613	MYCN	ORPHA:391641
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4613	MYCN	OMIM:620748
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4613	MYCN	OMIM:164280
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1300	COL10A1	OMIM:156500
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5422	POLA1	OMIM:301030
HP:0005927	Aplasia/hypoplasia involving bones of the hand	652	BMP4	OMIM:607932
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9742	IFT140	OMIM:266920
HP:0005927	Aplasia/hypoplasia involving bones of the hand	51053	GMNN	OMIM:616835
HP:0005927	Aplasia/hypoplasia involving bones of the hand	22995	CEP152	OMIM:613823
HP:0005927	Aplasia/hypoplasia involving bones of the hand	55081	IFT57	OMIM:617927
HP:0005927	Aplasia/hypoplasia involving bones of the hand	407975	MIR17HG	ORPHA:391646
HP:0005927	Aplasia/hypoplasia involving bones of the hand	658	BMPR1B	ORPHA:2098
HP:0005927	Aplasia/hypoplasia involving bones of the hand	7476	WNT7A	OMIM:276820
HP:0005927	Aplasia/hypoplasia involving bones of the hand	7476	WNT7A	OMIM:228930
HP:0005927	Aplasia/hypoplasia involving bones of the hand	860	RUNX2	OMIM:119600
HP:0005927	Aplasia/hypoplasia involving bones of the hand	84295	PHF6	OMIM:301900
HP:0005927	Aplasia/hypoplasia involving bones of the hand	84992	PIGY	ORPHA:247262
HP:0005927	Aplasia/hypoplasia involving bones of the hand	84992	PIGY	OMIM:616809
HP:0005927	Aplasia/hypoplasia involving bones of the hand	84720	PIGO	ORPHA:247262
HP:0005927	Aplasia/hypoplasia involving bones of the hand	84720	PIGO	OMIM:614749
HP:0005927	Aplasia/hypoplasia involving bones of the hand	93210	PGAP3	ORPHA:247262
HP:0005927	Aplasia/hypoplasia involving bones of the hand	93210	PGAP3	OMIM:615716
HP:0005927	Aplasia/hypoplasia involving bones of the hand	284098	PIGW	ORPHA:247262
HP:0005927	Aplasia/hypoplasia involving bones of the hand	27315	PGAP2	ORPHA:247262
HP:0005927	Aplasia/hypoplasia involving bones of the hand	27315	PGAP2	OMIM:614207
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2972	BRF1	OMIM:616202
HP:0005927	Aplasia/hypoplasia involving bones of the hand	29929	ALG6	ORPHA:79320
HP:0005927	Aplasia/hypoplasia involving bones of the hand	672	BRCA1	ORPHA:84
HP:0005927	Aplasia/hypoplasia involving bones of the hand	10459	MAD2L2	ORPHA:84
HP:0005927	Aplasia/hypoplasia involving bones of the hand	7516	XRCC2	ORPHA:84
HP:0005927	Aplasia/hypoplasia involving bones of the hand	29089	UBE2T	ORPHA:84
HP:0005927	Aplasia/hypoplasia involving bones of the hand	675	BRCA2	ORPHA:84
HP:0005927	Aplasia/hypoplasia involving bones of the hand	55120	FANCL	ORPHA:84
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2177	FANCD2	ORPHA:84
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2175	FANCA	ORPHA:84
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2187	FANCB	ORPHA:84
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2176	FANCC	ORPHA:84
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2178	FANCE	ORPHA:84
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2188	FANCF	ORPHA:84
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2189	FANCG	ORPHA:84
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5888	RAD51	ORPHA:84
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5889	RAD51C	ORPHA:84
HP:0005927	Aplasia/hypoplasia involving bones of the hand	55159	RFWD3	ORPHA:84
HP:0005927	Aplasia/hypoplasia involving bones of the hand	83990	BRIP1	ORPHA:84
HP:0005927	Aplasia/hypoplasia involving bones of the hand	57697	FANCM	ORPHA:84
HP:0005927	Aplasia/hypoplasia involving bones of the hand	79728	PALB2	ORPHA:84
HP:0005927	Aplasia/hypoplasia involving bones of the hand	84464	SLX4	ORPHA:84
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2072	ERCC4	ORPHA:84
HP:0005927	Aplasia/hypoplasia involving bones of the hand	55215	FANCI	ORPHA:84
HP:0005927	Aplasia/hypoplasia involving bones of the hand	56992	KIF15	ORPHA:261323
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5648	MASP1	OMIM:257920
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6597	SMARCA4	ORPHA:1465
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6597	SMARCA4	OMIM:614609
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6598	SMARCB1	ORPHA:1465
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6659	SOX4	ORPHA:1465
HP:0005927	Aplasia/hypoplasia involving bones of the hand	8289	ARID1A	ORPHA:1465
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5977	DPF2	ORPHA:1465
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6601	SMARCC2	ORPHA:1465
HP:0005927	Aplasia/hypoplasia involving bones of the hand	57492	ARID1B	ORPHA:1465
HP:0005927	Aplasia/hypoplasia involving bones of the hand	196528	ARID2	ORPHA:1465
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6605	SMARCE1	ORPHA:1465
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6664	SOX11	ORPHA:1465
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5879	RAC1	ORPHA:500159
HP:0005927	Aplasia/hypoplasia involving bones of the hand	91461	PKDCC	OMIM:618821
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9820	CUL7	OMIM:273750
HP:0005927	Aplasia/hypoplasia involving bones of the hand	23363	OBSL1	OMIM:612921
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4848	CNOT2	OMIM:618608
HP:0005927	Aplasia/hypoplasia involving bones of the hand	526	ATP6V1B2	ORPHA:79500
HP:0005927	Aplasia/hypoplasia involving bones of the hand	57465	TBC1D24	ORPHA:79500
HP:0005927	Aplasia/hypoplasia involving bones of the hand	57465	TBC1D24	OMIM:220500
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5286	PIK3C2A	ORPHA:557003
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1327	COX4I1	OMIM:619060
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4212	MEIS2	OMIM:600987
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1028	CDKN1C	ORPHA:397590
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5324	PLAG1	ORPHA:397590
HP:0005927	Aplasia/hypoplasia involving bones of the hand	8091	HMGA2	ORPHA:397590
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2122	MECOM	OMIM:616738
HP:0005927	Aplasia/hypoplasia involving bones of the hand	55605	KIF21A	ORPHA:45358
HP:0005927	Aplasia/hypoplasia involving bones of the hand	347733	TUBB2B	ORPHA:45358
HP:0005927	Aplasia/hypoplasia involving bones of the hand	7846	TUBA1A	ORPHA:45358
HP:0005927	Aplasia/hypoplasia involving bones of the hand	401	PHOX2A	ORPHA:45358
HP:0005927	Aplasia/hypoplasia involving bones of the hand	84570	COL25A1	ORPHA:45358
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6154	RPL26	OMIM:614900
HP:0005927	Aplasia/hypoplasia involving bones of the hand	10262	SF3B4	ORPHA:1788
HP:0005927	Aplasia/hypoplasia involving bones of the hand	64093	SMOC1	ORPHA:1106
HP:0005927	Aplasia/hypoplasia involving bones of the hand	64093	SMOC1	OMIM:206920
HP:0005927	Aplasia/hypoplasia involving bones of the hand	157570	ESCO2	OMIM:268300
HP:0005927	Aplasia/hypoplasia involving bones of the hand	59344	ALOXE3	OMIM:242100
HP:0005927	Aplasia/hypoplasia involving bones of the hand	242	ALOX12B	OMIM:242100
HP:0005927	Aplasia/hypoplasia involving bones of the hand	8820	HESX1	OMIM:182230
HP:0005927	Aplasia/hypoplasia involving bones of the hand	8820	HESX1	ORPHA:226307
HP:0005927	Aplasia/hypoplasia involving bones of the hand	26154	ABCA12	OMIM:242500
HP:0005927	Aplasia/hypoplasia involving bones of the hand	7840	ALMS1	ORPHA:64
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9131	AIFM1	OMIM:300232
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6134	RPL10	OMIM:300998
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6134	RPL10	ORPHA:459070
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5626	PROP1	ORPHA:226307
HP:0005927	Aplasia/hypoplasia involving bones of the hand	89884	LHX4	ORPHA:226307
HP:0005927	Aplasia/hypoplasia involving bones of the hand	8022	LHX3	ORPHA:226307
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5449	POU1F1	ORPHA:226307
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4038	LRP4	OMIM:614305
HP:0005927	Aplasia/hypoplasia involving bones of the hand	7750	ZMYM2	OMIM:619522
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9578	CDC42BPB	OMIM:619841
HP:0005927	Aplasia/hypoplasia involving bones of the hand	8481	OFD1	OMIM:300209
HP:0005927	Aplasia/hypoplasia involving bones of the hand	176	ACAN	OMIM:612813
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6263	RYR3	OMIM:620310
HP:0005927	Aplasia/hypoplasia involving bones of the hand	427	ASAH1	ORPHA:333
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9896	FIG4	OMIM:216340
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9896	FIG4	ORPHA:3472
HP:0005927	Aplasia/hypoplasia involving bones of the hand	444	ASPH	OMIM:601552
HP:0005927	Aplasia/hypoplasia involving bones of the hand	84823	LMNB2	OMIM:619180
HP:0005927	Aplasia/hypoplasia involving bones of the hand	55697	VAC14	ORPHA:3472
HP:0005927	Aplasia/hypoplasia involving bones of the hand	164	AP1G1	OMIM:619467
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5277	PIGA	OMIM:300868
HP:0005927	Aplasia/hypoplasia involving bones of the hand	57178	ZMIZ1	OMIM:618659
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1134	CHRNA1	OMIM:253290
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1146	CHRNG	OMIM:253290
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1144	CHRND	OMIM:253290
HP:0005927	Aplasia/hypoplasia involving bones of the hand	3736	KCNA1	ORPHA:1934
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9091	PIGQ	ORPHA:1934
HP:0005927	Aplasia/hypoplasia involving bones of the hand	140679	SLC32A1	ORPHA:1934
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2775	GNAO1	ORPHA:1934
HP:0005927	Aplasia/hypoplasia involving bones of the hand	81603	TRIM8	ORPHA:1934
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2902	GRIN1	ORPHA:1934
HP:0005927	Aplasia/hypoplasia involving bones of the hand	79751	SLC25A22	ORPHA:1934
HP:0005927	Aplasia/hypoplasia involving bones of the hand	150094	SIK1	ORPHA:1934
HP:0005927	Aplasia/hypoplasia involving bones of the hand	8573	CASK	ORPHA:1934
HP:0005927	Aplasia/hypoplasia involving bones of the hand	23312	DMXL2	ORPHA:1934
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2917	GRM7	ORPHA:1934
HP:0005927	Aplasia/hypoplasia involving bones of the hand	170302	ARX	ORPHA:1934
HP:0005927	Aplasia/hypoplasia involving bones of the hand	11284	PNKP	ORPHA:1934
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6326	SCN2A	ORPHA:1934
HP:0005927	Aplasia/hypoplasia involving bones of the hand	51227	PIGP	ORPHA:1934
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6324	SCN1B	ORPHA:1934
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4761	NEUROD2	ORPHA:1934
HP:0005927	Aplasia/hypoplasia involving bones of the hand	26123	TCTN3	OMIM:258860
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2019	EN1	OMIM:619218
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2077	ERF	OMIM:617180
HP:0005927	Aplasia/hypoplasia involving bones of the hand	10265	IRX5	OMIM:611174
HP:0005927	Aplasia/hypoplasia involving bones of the hand	50814	NSDHL	OMIM:308050
HP:0005927	Aplasia/hypoplasia involving bones of the hand	27152	INTU	OMIM:617926
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9935	MAFB	ORPHA:233
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1123	CHN1	ORPHA:233
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5925	RB1	ORPHA:1587
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6469	SHH	ORPHA:988
HP:0005927	Aplasia/hypoplasia involving bones of the hand	80144	FRAS1	OMIM:219000
HP:0005927	Aplasia/hypoplasia involving bones of the hand	340419	RSPO2	OMIM:618022
HP:0005927	Aplasia/hypoplasia involving bones of the hand	8452	CUL3	OMIM:619239
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5718	PSMD12	OMIM:617516
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6223	RPS19	OMIM:105650
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6223	RPS19	ORPHA:124
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6138	RPL15	ORPHA:124
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6224	RPS20	ORPHA:124
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6165	RPL35A	ORPHA:124
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6132	RPL8	ORPHA:124
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6232	RPS27	ORPHA:124
HP:0005927	Aplasia/hypoplasia involving bones of the hand	55027	HEATR3	ORPHA:124
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6160	RPL31	ORPHA:124
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6201	RPS7	ORPHA:124
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6155	RPL27	ORPHA:124
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6234	RPS28	ORPHA:124
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6135	RPL11	ORPHA:124
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6229	RPS24	ORPHA:124
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6125	RPL5	ORPHA:124
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6204	RPS10	ORPHA:124
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2623	GATA1	ORPHA:124
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6133	RPL9	ORPHA:124
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6231	RPS26	ORPHA:124
HP:0005927	Aplasia/hypoplasia involving bones of the hand	11224	RPL35	ORPHA:124
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6218	RPS17	ORPHA:124
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6210	RPS15A	ORPHA:124
HP:0005927	Aplasia/hypoplasia involving bones of the hand	90121	TSR2	ORPHA:124
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6141	RPL18	ORPHA:124
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6235	RPS29	ORPHA:124
HP:0005927	Aplasia/hypoplasia involving bones of the hand	51816	ADA2	ORPHA:124
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2255	FGF10	ORPHA:2363
HP:0005927	Aplasia/hypoplasia involving bones of the hand	23028	KDM1A	OMIM:616728
HP:0005927	Aplasia/hypoplasia involving bones of the hand	23028	KDM1A	ORPHA:477993
HP:0005927	Aplasia/hypoplasia involving bones of the hand	29998	BICRA	OMIM:619325
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1723	DHODH	OMIM:263750
HP:0005927	Aplasia/hypoplasia involving bones of the hand	324	APC	ORPHA:3258
HP:0005927	Aplasia/hypoplasia involving bones of the hand	54880	BCOR	ORPHA:2712
HP:0005927	Aplasia/hypoplasia involving bones of the hand	7020	TFAP2A	OMIM:113620
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1717	DHCR7	OMIM:270400
HP:0005927	Aplasia/hypoplasia involving bones of the hand	10815	CPLX1	ORPHA:280
HP:0005927	Aplasia/hypoplasia involving bones of the hand	10815	CPLX1	OMIM:194190
HP:0005927	Aplasia/hypoplasia involving bones of the hand	54872	PIGG	ORPHA:280
HP:0005927	Aplasia/hypoplasia involving bones of the hand	7469	NELFA	ORPHA:280
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1487	CTBP1	ORPHA:280
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1487	CTBP1	OMIM:194190
HP:0005927	Aplasia/hypoplasia involving bones of the hand	3954	LETM1	ORPHA:280
HP:0005927	Aplasia/hypoplasia involving bones of the hand	3954	LETM1	OMIM:194190
HP:0005927	Aplasia/hypoplasia involving bones of the hand	7468	NSD2	ORPHA:280
HP:0005927	Aplasia/hypoplasia involving bones of the hand	7468	NSD2	OMIM:194190
HP:0005927	Aplasia/hypoplasia involving bones of the hand	53834	FGFRL1	OMIM:194190
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2033	EP300	OMIM:180849
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1387	CREBBP	OMIM:180849
HP:0005927	Aplasia/hypoplasia involving bones of the hand	80036	TRPM3	OMIM:620224
HP:0005927	Aplasia/hypoplasia involving bones of the hand	374879	ZNF699	OMIM:619488
HP:0005927	Aplasia/hypoplasia involving bones of the hand	50515	CHST11	OMIM:618167
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4256	MGP	OMIM:245150
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9968	MED12	OMIM:300895
HP:0005927	Aplasia/hypoplasia involving bones of the hand	170691	ADAMTS17	ORPHA:3449
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4053	LTBP2	ORPHA:3449
HP:0005927	Aplasia/hypoplasia involving bones of the hand	81794	ADAMTS10	ORPHA:3449
HP:0005927	Aplasia/hypoplasia involving bones of the hand	26100	WIPI2	OMIM:618453
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9488	PIGB	OMIM:618580
HP:0005927	Aplasia/hypoplasia involving bones of the hand	10617	STAMBP	OMIM:614261
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2335	FN1	ORPHA:93315
HP:0005927	Aplasia/hypoplasia involving bones of the hand	10973	ASCC3	OMIM:620700
HP:0005927	Aplasia/hypoplasia involving bones of the hand	51412	ACTL6B	OMIM:618470
HP:0005927	Aplasia/hypoplasia involving bones of the hand	3764	KCNJ8	ORPHA:1517
HP:0005927	Aplasia/hypoplasia involving bones of the hand	10060	ABCC9	ORPHA:1517
HP:0005927	Aplasia/hypoplasia involving bones of the hand	112752	IFT43	ORPHA:1515
HP:0005927	Aplasia/hypoplasia involving bones of the hand	55764	IFT122	ORPHA:1515
HP:0005927	Aplasia/hypoplasia involving bones of the hand	55764	IFT122	OMIM:218330
HP:0005927	Aplasia/hypoplasia involving bones of the hand	57728	WDR19	ORPHA:1515
HP:0005927	Aplasia/hypoplasia involving bones of the hand	57728	WDR19	OMIM:614378
HP:0005927	Aplasia/hypoplasia involving bones of the hand	10269	ZMPSTE24	ORPHA:90154
HP:0005927	Aplasia/hypoplasia involving bones of the hand	55650	PIGV	OMIM:239300
HP:0005927	Aplasia/hypoplasia involving bones of the hand	29957	SLC25A24	ORPHA:2963
HP:0005927	Aplasia/hypoplasia involving bones of the hand	29957	SLC25A24	ORPHA:2095
HP:0005927	Aplasia/hypoplasia involving bones of the hand	29957	SLC25A24	OMIM:612289
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4784	NFIX	OMIM:602535
HP:0005927	Aplasia/hypoplasia involving bones of the hand	24140	FTSJ1	OMIM:309549
HP:0005927	Aplasia/hypoplasia involving bones of the hand	3756	KCNH1	OMIM:135500
HP:0005927	Aplasia/hypoplasia involving bones of the hand	3756	KCNH1	ORPHA:420561
HP:0005927	Aplasia/hypoplasia involving bones of the hand	3756	KCNH1	OMIM:611816
HP:0005927	Aplasia/hypoplasia involving bones of the hand	64359	NXN	ORPHA:1507
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5566	PRKACA	ORPHA:289
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5567	PRKACB	ORPHA:289
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2735	GLI1	ORPHA:289
HP:0005927	Aplasia/hypoplasia involving bones of the hand	51626	DYNC2LI1	ORPHA:289
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2475	MTOR	OMIM:616638
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9419	CRIPT	OMIM:615789
HP:0005927	Aplasia/hypoplasia involving bones of the hand	3782	KCNN3	OMIM:618658
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4853	NOTCH2	ORPHA:955
HP:0005927	Aplasia/hypoplasia involving bones of the hand	54	ACP5	ORPHA:1855
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5281	PIGF	OMIM:619356
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2677	GGCX	OMIM:277450
HP:0005927	Aplasia/hypoplasia involving bones of the hand	415	ARSL	ORPHA:79345
HP:0005927	Aplasia/hypoplasia involving bones of the hand	415	ARSL	OMIM:302950
HP:0005927	Aplasia/hypoplasia involving bones of the hand	26137	ZBTB20	OMIM:259050
HP:0005927	Aplasia/hypoplasia involving bones of the hand	60401	EDA2R	ORPHA:181
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1896	EDA	ORPHA:181
HP:0005927	Aplasia/hypoplasia involving bones of the hand	28952	CCDC22	OMIM:300963
HP:0005927	Aplasia/hypoplasia involving bones of the hand	182	JAG1	OMIM:118450
HP:0005927	Aplasia/hypoplasia involving bones of the hand	7291	TWIST1	OMIM:617746
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1186	CLCN7	ORPHA:53
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2703	GJA8	OMIM:612474
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2702	GJA5	OMIM:612474
HP:0005927	Aplasia/hypoplasia involving bones of the hand	865	CBFB	OMIM:620099
HP:0005927	Aplasia/hypoplasia involving bones of the hand	90	ACVR1	OMIM:135100
HP:0005927	Aplasia/hypoplasia involving bones of the hand	57020	VPS35L	OMIM:619135
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6091	ROBO1	OMIM:620305
HP:0005927	Aplasia/hypoplasia involving bones of the hand	3209	HOXA13	OMIM:140000
HP:0005927	Aplasia/hypoplasia involving bones of the hand	3209	HOXA13	ORPHA:2438
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6910	TBX5	OMIM:142900
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6662	SOX9	OMIM:114290
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5116	PCNT	OMIM:210720
HP:0005927	Aplasia/hypoplasia involving bones of the hand	26040	SETBP1	OMIM:269150
HP:0005927	Aplasia/hypoplasia involving bones of the hand	26040	SETBP1	ORPHA:798
HP:0005927	Aplasia/hypoplasia involving bones of the hand	3911	LAMA5	OMIM:620076
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2737	GLI3	ORPHA:93322
HP:0005927	Aplasia/hypoplasia involving bones of the hand	650	BMP2	ORPHA:93396
HP:0005927	Aplasia/hypoplasia involving bones of the hand	374969	SVBP	OMIM:618569
HP:0005927	Aplasia/hypoplasia involving bones of the hand	55612	FERMT1	ORPHA:2908
HP:0005927	Aplasia/hypoplasia involving bones of the hand	94005	PIGS	OMIM:618143
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6473	SHOX	OMIM:127300
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6736	SRY	ORPHA:1772
HP:0005927	Aplasia/hypoplasia involving bones of the hand	79633	FAT4	OMIM:615546
HP:0005927	Aplasia/hypoplasia involving bones of the hand	8642	DCHS1	OMIM:601390
HP:0005927	Aplasia/hypoplasia involving bones of the hand	26224	FBXL3	OMIM:606220
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5727	PTCH1	OMIM:109400
HP:0005927	Aplasia/hypoplasia involving bones of the hand	8823	FGF16	OMIM:309630
HP:0005927	Aplasia/hypoplasia involving bones of the hand	57167	SALL4	OMIM:607323
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2137	EXTL3	ORPHA:508533
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9361	LONP1	OMIM:600373
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9361	LONP1	ORPHA:1458
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5144	PDE4D	ORPHA:950
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5144	PDE4D	ORPHA:439822
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5144	PDE4D	OMIM:614613
HP:0005927	Aplasia/hypoplasia involving bones of the hand	54808	DYM	OMIM:607326
HP:0005927	Aplasia/hypoplasia involving bones of the hand	54808	DYM	OMIM:223800
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2131	EXT1	OMIM:133700
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2131	EXT1	ORPHA:321
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2132	EXT2	OMIM:133701
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2132	EXT2	ORPHA:321
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1763	DNA2	OMIM:620819
HP:0005927	Aplasia/hypoplasia involving bones of the hand	55733	HHAT	OMIM:600092
HP:0005927	Aplasia/hypoplasia involving bones of the hand	55733	HHAT	ORPHA:1422
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5447	POR	ORPHA:95699
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1836	SLC26A2	ORPHA:56304
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1836	SLC26A2	ORPHA:93307
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1836	SLC26A2	OMIM:226900
HP:0005927	Aplasia/hypoplasia involving bones of the hand	114803	MYSM1	ORPHA:508542
HP:0005927	Aplasia/hypoplasia involving bones of the hand	149775	GNAS-AS1	OMIM:603233
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2778	GNAS	OMIM:603233
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2778	GNAS	OMIM:612463
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2778	GNAS	OMIM:612462
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2778	GNAS	ORPHA:79443
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2778	GNAS	ORPHA:79444
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2778	GNAS	OMIM:103580
HP:0005927	Aplasia/hypoplasia involving bones of the hand	8675	STX16	OMIM:603233
HP:0005927	Aplasia/hypoplasia involving bones of the hand	117581	TWIST2	OMIM:200110
HP:0005927	Aplasia/hypoplasia involving bones of the hand	10686	CLDN16	OMIM:248250
HP:0005927	Aplasia/hypoplasia involving bones of the hand	10847	SRCAP	ORPHA:2044
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5744	PTHLH	ORPHA:93387
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5744	PTHLH	OMIM:613382
HP:0005927	Aplasia/hypoplasia involving bones of the hand	3239	HOXD13	ORPHA:93387
HP:0005927	Aplasia/hypoplasia involving bones of the hand	3239	HOXD13	OMIM:113300
HP:0005927	Aplasia/hypoplasia involving bones of the hand	10225	CD96	OMIM:211750
HP:0005927	Aplasia/hypoplasia involving bones of the hand	64175	P3H1	OMIM:610915
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6197	RPS6KA3	OMIM:303600
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6197	RPS6KA3	ORPHA:192
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9469	CHST3	ORPHA:263463
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9469	CHST3	OMIM:143095
HP:0005927	Aplasia/hypoplasia involving bones of the hand	54496	PRMT7	OMIM:617157
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2317	FLNB	OMIM:108720
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2317	FLNB	OMIM:272460
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2317	FLNB	OMIM:150250
HP:0005927	Aplasia/hypoplasia involving bones of the hand	157680	VPS13B	OMIM:216550
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5139	PDE3A	OMIM:112410
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5139	PDE3A	ORPHA:1276
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1311	COMP	OMIM:132400
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1311	COMP	OMIM:177170
HP:0005927	Aplasia/hypoplasia involving bones of the hand	29980	DONSON	OMIM:617604
HP:0005927	Aplasia/hypoplasia involving bones of the hand	64840	PORCN	OMIM:305600
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4882	NPR2	OMIM:602875
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5593	PRKG2	OMIM:619636
HP:0005927	Aplasia/hypoplasia involving bones of the hand	10283	CWC27	OMIM:250410
HP:0005927	Aplasia/hypoplasia involving bones of the hand	10283	CWC27	ORPHA:166035
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4810	NHS	ORPHA:627
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5130	PCYT1A	ORPHA:85167
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5130	PCYT1A	OMIM:608940
HP:0005927	Aplasia/hypoplasia involving bones of the hand	54928	BPNT2	OMIM:614078
HP:0005927	Aplasia/hypoplasia involving bones of the hand	51098	IFT52	OMIM:617102
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1299	COL9A3	OMIM:600969
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4148	MATN3	OMIM:607078
HP:0005927	Aplasia/hypoplasia involving bones of the hand	126792	B3GALT6	OMIM:271640
HP:0005927	Aplasia/hypoplasia involving bones of the hand	126792	B3GALT6	OMIM:615349
HP:0005927	Aplasia/hypoplasia involving bones of the hand	55252	ASXL2	OMIM:617190
HP:0005927	Aplasia/hypoplasia involving bones of the hand	3930	LBR	OMIM:215140
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5264	PHYH	ORPHA:773
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5191	PEX7	ORPHA:773
HP:0005927	Aplasia/hypoplasia involving bones of the hand	23483	TGDS	OMIM:616145
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1788	DNMT3A	OMIM:618724
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5498	PPOX	OMIM:620483
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9775	EIF4A3	OMIM:268305
HP:0005927	Aplasia/hypoplasia involving bones of the hand	54101	RIPK4	OMIM:263650
HP:0005927	Aplasia/hypoplasia involving bones of the hand	83452	RAB33B	OMIM:615222
HP:0005927	Aplasia/hypoplasia involving bones of the hand	91252	SLC39A13	OMIM:612350
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1297	COL9A1	OMIM:614134
HP:0005927	Aplasia/hypoplasia involving bones of the hand	25871	NEPRO	OMIM:618853
HP:0005927	Aplasia/hypoplasia involving bones of the hand	90417	KNSTRN	OMIM:613328
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5293	PIK3CD	OMIM:613328
HP:0005927	Aplasia/hypoplasia involving bones of the hand	64682	ANAPC1	ORPHA:221008
HP:0005927	Aplasia/hypoplasia involving bones of the hand	8243	SMC1A	OMIM:300590
HP:0005927	Aplasia/hypoplasia involving bones of the hand	8243	SMC1A	OMIM:301044
HP:0005927	Aplasia/hypoplasia involving bones of the hand	8243	SMC1A	ORPHA:3095
HP:0005927	Aplasia/hypoplasia involving bones of the hand	8243	SMC1A	ORPHA:199
HP:0005927	Aplasia/hypoplasia involving bones of the hand	388015	RTL1	ORPHA:254531
HP:0005927	Aplasia/hypoplasia involving bones of the hand	388015	RTL1	ORPHA:254525
HP:0005927	Aplasia/hypoplasia involving bones of the hand	388015	RTL1	ORPHA:96184
HP:0005927	Aplasia/hypoplasia involving bones of the hand	8788	DLK1	ORPHA:254531
HP:0005927	Aplasia/hypoplasia involving bones of the hand	8788	DLK1	ORPHA:254525
HP:0005927	Aplasia/hypoplasia involving bones of the hand	8788	DLK1	ORPHA:96184
HP:0005927	Aplasia/hypoplasia involving bones of the hand	55384	MEG3	ORPHA:254531
HP:0005927	Aplasia/hypoplasia involving bones of the hand	55384	MEG3	ORPHA:254525
HP:0005927	Aplasia/hypoplasia involving bones of the hand	55384	MEG3	ORPHA:96184
HP:0005927	Aplasia/hypoplasia involving bones of the hand	26128	KIFBP	OMIM:609460
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9698	PUM1	OMIM:617931
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9698	PUM1	OMIM:620719
HP:0005927	Aplasia/hypoplasia involving bones of the hand	23394	ADNP	OMIM:615873
HP:0005927	Aplasia/hypoplasia involving bones of the hand	23314	SATB2	ORPHA:251028
HP:0005927	Aplasia/hypoplasia involving bones of the hand	781	CACNA2D1	OMIM:620149
HP:0005927	Aplasia/hypoplasia involving bones of the hand	123263	MTFMT	OMIM:614947
HP:0005927	Aplasia/hypoplasia involving bones of the hand	84320	ACBD6	OMIM:620785
HP:0005927	Aplasia/hypoplasia involving bones of the hand	27125	AFF4	ORPHA:444077
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6792	CDKL5	ORPHA:3095
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6792	CDKL5	OMIM:300672
HP:0005927	Aplasia/hypoplasia involving bones of the hand	22854	NTNG1	ORPHA:3095
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9568	GABBR2	ORPHA:3095
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9568	GABBR2	OMIM:617903
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4204	MECP2	ORPHA:3095
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4204	MECP2	OMIM:300055
HP:0005927	Aplasia/hypoplasia involving bones of the hand	55869	HDAC8	OMIM:300882
HP:0005927	Aplasia/hypoplasia involving bones of the hand	55869	HDAC8	ORPHA:199
HP:0005927	Aplasia/hypoplasia involving bones of the hand	55869	HDAC8	ORPHA:3459
HP:0005927	Aplasia/hypoplasia involving bones of the hand	79868	ALG13	OMIM:300884
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1062	CENPE	OMIM:616051
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6651	SON	OMIM:617140
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6492	SIM1	ORPHA:398079
HP:0005927	Aplasia/hypoplasia involving bones of the hand	55784	MCTP2	ORPHA:1596
HP:0005927	Aplasia/hypoplasia involving bones of the hand	8085	KMT2D	ORPHA:2322
HP:0005927	Aplasia/hypoplasia involving bones of the hand	7403	KDM6A	ORPHA:2322
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9382	COG1	OMIM:611209
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9126	SMC3	OMIM:610759
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9126	SMC3	ORPHA:199
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4297	KMT2A	OMIM:605130
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6638	SNRPN	ORPHA:177904
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6638	SNRPN	ORPHA:177901
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6638	SNRPN	ORPHA:177910
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6638	SNRPN	ORPHA:177907
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6638	SNRPN	ORPHA:98754
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4692	NDN	ORPHA:177904
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4692	NDN	ORPHA:177901
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4692	NDN	ORPHA:177910
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4692	NDN	ORPHA:98754
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4948	OCA2	ORPHA:177904
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4948	OCA2	ORPHA:177901
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4948	OCA2	ORPHA:98754
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2590	GALNT2	OMIM:618885
HP:0005927	Aplasia/hypoplasia involving bones of the hand	3064	HTT	OMIM:617435
HP:0005927	Aplasia/hypoplasia involving bones of the hand	10381	TUBB3	ORPHA:300570
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1147	CHUK	OMIM:619339
HP:0005927	Aplasia/hypoplasia involving bones of the hand	3248	HPGD	ORPHA:2796
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6578	SLCO2A1	ORPHA:2796
HP:0005927	Aplasia/hypoplasia involving bones of the hand	7703	PCGF2	OMIM:618371
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6045	RNF2	OMIM:619460
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1501	CTNND2	ORPHA:281
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9037	SEMA5A	ORPHA:281
HP:0005927	Aplasia/hypoplasia involving bones of the hand	23384	SPECC1L	OMIM:145420
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6304	SATB1	OMIM:619229
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6602	SMARCD1	OMIM:618779
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1974	EIF4A2	OMIM:620455
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2697	GJA1	OMIM:257850
HP:0005927	Aplasia/hypoplasia involving bones of the hand	6878	TAF6	ORPHA:199
HP:0005927	Aplasia/hypoplasia involving bones of the hand	25836	NIPBL	ORPHA:199
HP:0005927	Aplasia/hypoplasia involving bones of the hand	25836	NIPBL	OMIM:122470
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5885	RAD21	ORPHA:199
HP:0005927	Aplasia/hypoplasia involving bones of the hand	3981	LIG4	ORPHA:235
HP:0005927	Aplasia/hypoplasia involving bones of the hand	54888	NSUN2	ORPHA:235
HP:0005927	Aplasia/hypoplasia involving bones of the hand	55768	NGLY1	OMIM:615273
HP:0005927	Aplasia/hypoplasia involving bones of the hand	7874	USP7	ORPHA:500055
HP:0005927	Aplasia/hypoplasia involving bones of the hand	8493	PPM1D	OMIM:617450
HP:0005927	Aplasia/hypoplasia involving bones of the hand	8558	CDK10	OMIM:617694
HP:0005927	Aplasia/hypoplasia involving bones of the hand	3481	IGF2	OMIM:616489
HP:0005927	Aplasia/hypoplasia involving bones of the hand	8239	USP9X	ORPHA:480880
HP:0005927	Aplasia/hypoplasia involving bones of the hand	8239	USP9X	OMIM:300968
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9894	TELO2	ORPHA:488642
HP:0005927	Aplasia/hypoplasia involving bones of the hand	80232	WDR26	OMIM:617616
HP:0005927	Aplasia/hypoplasia involving bones of the hand	259232	NALCN	ORPHA:371364
HP:0005927	Aplasia/hypoplasia involving bones of the hand	285175	UNC80	ORPHA:371364
HP:0005927	Aplasia/hypoplasia involving bones of the hand	7486	WRN	ORPHA:902
HP:0005927	Aplasia/hypoplasia involving bones of the hand	55343	SLC35C1	OMIM:266265
HP:0005927	Aplasia/hypoplasia involving bones of the hand	23556	PIGN	ORPHA:280633
HP:0005927	Aplasia/hypoplasia involving bones of the hand	3800	KIF5C	OMIM:615282
HP:0005927	Aplasia/hypoplasia involving bones of the hand	4849	CNOT3	OMIM:618672
HP:0005927	Aplasia/hypoplasia involving bones of the hand	81887	LAS1L	ORPHA:3459
HP:0005927	Aplasia/hypoplasia involving bones of the hand	23162	MAPK8IP3	OMIM:618443
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2332	FMR1	ORPHA:261483
HP:0005927	Aplasia/hypoplasia involving bones of the hand	2186	BPTF	OMIM:617755
HP:0005927	Aplasia/hypoplasia involving bones of the hand	388662	SLC6A17	OMIM:616269
HP:0005927	Aplasia/hypoplasia involving bones of the hand	23219	FBXO28	OMIM:619777
HP:0005927	Aplasia/hypoplasia involving bones of the hand	5557	PRIM1	OMIM:620005
HP:0005927	Aplasia/hypoplasia involving bones of the hand	64131	XYLT1	ORPHA:1425
HP:0005927	Aplasia/hypoplasia involving bones of the hand	124583	CANT1	ORPHA:1425
HP:0005927	Aplasia/hypoplasia involving bones of the hand	55790	CSGALNACT1	ORPHA:1425
HP:0005927	Aplasia/hypoplasia involving bones of the hand	9130	FAM50A	OMIM:300261
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1513	CTSK	ORPHA:763
HP:0005927	Aplasia/hypoplasia involving bones of the hand	406932	MIR140	OMIM:618618
HP:0005927	Aplasia/hypoplasia involving bones of the hand	10664	CTCF	OMIM:615502
HP:0005927	Aplasia/hypoplasia involving bones of the hand	25886	POC1A	OMIM:614813
HP:0005927	Aplasia/hypoplasia involving bones of the hand	78987	CRELD1	OMIM:620771
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1801	DPH1	ORPHA:459061
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1802	DPH2	ORPHA:459061
HP:0005927	Aplasia/hypoplasia involving bones of the hand	3762	KCNJ5	ORPHA:37553
HP:0005927	Aplasia/hypoplasia involving bones of the hand	84181	CHD6	ORPHA:2108
HP:0005927	Aplasia/hypoplasia involving bones of the hand	1281	COL3A1	ORPHA:2500
HP:0005927	Aplasia/hypoplasia involving bones of the hand	10075	HUWE1	OMIM:309590
HP:0005928	Synostosis involving the fibula	2737	GLI3	ORPHA:93322
HP:0005928	Synostosis involving the fibula	5447	POR	ORPHA:95699
HP:0005928	Synostosis involving the fibula	8200	GDF5	OMIM:200700
HP:0005929	Synostosis involving the tibia	2737	GLI3	ORPHA:93322
HP:0005929	Synostosis involving the tibia	5447	POR	ORPHA:95699
HP:0005929	Synostosis involving the tibia	8200	GDF5	OMIM:200700
HP:0005930	Abnormal epiphysis morphology	3835	KIF22	ORPHA:93360
HP:0005930	Abnormal epiphysis morphology	50628	GEMIN4	OMIM:617913
HP:0005930	Abnormal epiphysis morphology	64131	XYLT1	OMIM:615777
HP:0005930	Abnormal epiphysis morphology	55858	TMEM165	OMIM:614727
HP:0005930	Abnormal epiphysis morphology	124583	CANT1	OMIM:617719
HP:0005930	Abnormal epiphysis morphology	1302	COL11A2	ORPHA:1427
HP:0005930	Abnormal epiphysis morphology	1302	COL11A2	OMIM:184840
HP:0005930	Abnormal epiphysis morphology	1302	COL11A2	OMIM:215150
HP:0005930	Abnormal epiphysis morphology	411	ARSB	OMIM:253200
HP:0005930	Abnormal epiphysis morphology	59341	TRPV4	OMIM:156530
HP:0005930	Abnormal epiphysis morphology	9451	EIF2AK3	OMIM:226980
HP:0005930	Abnormal epiphysis morphology	1311	COMP	OMIM:132400
HP:0005930	Abnormal epiphysis morphology	3313	HSPA9	OMIM:616854
HP:0005930	Abnormal epiphysis morphology	1806	DPYD	ORPHA:1675
HP:0005930	Abnormal epiphysis morphology	2137	EXTL3	OMIM:617425
HP:0005930	Abnormal epiphysis morphology	4882	NPR2	OMIM:615923
HP:0005930	Abnormal epiphysis morphology	1028	CDKN1C	OMIM:614732
HP:0005930	Abnormal epiphysis morphology	126792	B3GALT6	OMIM:615349
HP:0005930	Abnormal epiphysis morphology	126792	B3GALT6	OMIM:271640
HP:0005930	Abnormal epiphysis morphology	2799	GNS	OMIM:252940
HP:0005930	Abnormal epiphysis morphology	374654	KIF7	OMIM:607131
HP:0005930	Abnormal epiphysis morphology	54808	DYM	ORPHA:239
HP:0005930	Abnormal epiphysis morphology	4148	MATN3	OMIM:607078
HP:0005930	Abnormal epiphysis morphology	1184	CLCN5	OMIM:300554
HP:0005930	Abnormal epiphysis morphology	1184	CLCN5	OMIM:300009
HP:0005930	Abnormal epiphysis morphology	142680	SLC34A3	OMIM:241530
HP:0005930	Abnormal epiphysis morphology	1594	CYP27B1	ORPHA:289157
HP:0005930	Abnormal epiphysis morphology	1594	CYP27B1	OMIM:264700
HP:0005930	Abnormal epiphysis morphology	120227	CYP2R1	ORPHA:289157
HP:0005930	Abnormal epiphysis morphology	120227	CYP2R1	OMIM:600081
HP:0005930	Abnormal epiphysis morphology	55699	IARS2	OMIM:616007
HP:0005930	Abnormal epiphysis morphology	23761	PISD	OMIM:618889
HP:0005930	Abnormal epiphysis morphology	4796	TONSL	ORPHA:93357
HP:0005930	Abnormal epiphysis morphology	2099	ESR1	ORPHA:785
HP:0005930	Abnormal epiphysis morphology	51025	PAM16	OMIM:613320
HP:0005930	Abnormal epiphysis morphology	7421	VDR	OMIM:277440
HP:0005930	Abnormal epiphysis morphology	406932	MIR140	OMIM:618618
HP:0005930	Abnormal epiphysis morphology	6662	SOX9	OMIM:114290
HP:0005930	Abnormal epiphysis morphology	2263	FGFR2	OMIM:101200
HP:0005930	Abnormal epiphysis morphology	1588	CYP19A1	ORPHA:91
HP:0005930	Abnormal epiphysis morphology	2879	GPX4	OMIM:250220
HP:0005930	Abnormal epiphysis morphology	2720	GLB1	OMIM:253010
HP:0005930	Abnormal epiphysis morphology	2588	GALNS	OMIM:253000
HP:0005930	Abnormal epiphysis morphology	91252	SLC39A13	ORPHA:157965
HP:0005930	Abnormal epiphysis morphology	91252	SLC39A13	OMIM:612350
HP:0005930	Abnormal epiphysis morphology	9131	AIFM1	OMIM:300232
HP:0005930	Abnormal epiphysis morphology	83452	RAB33B	OMIM:615222
HP:0005930	Abnormal epiphysis morphology	84068	SLC10A7	OMIM:618363
HP:0005930	Abnormal epiphysis morphology	8838	CCN6	OMIM:208230
HP:0005930	Abnormal epiphysis morphology	9469	CHST3	OMIM:143095
HP:0005930	Abnormal epiphysis morphology	55764	IFT122	OMIM:218330
HP:0005930	Abnormal epiphysis morphology	9653	HS2ST1	OMIM:619194
HP:0005930	Abnormal epiphysis morphology	8985	PLOD3	OMIM:612394
HP:0005930	Abnormal epiphysis morphology	50485	SMARCAL1	OMIM:242900
HP:0005930	Abnormal epiphysis morphology	9382	COG1	OMIM:611209
HP:0005930	Abnormal epiphysis morphology	5286	PIK3C2A	ORPHA:557003
HP:0005930	Abnormal epiphysis morphology	84572	GNPTG	OMIM:252605
HP:0005930	Abnormal epiphysis morphology	1300	COL10A1	OMIM:156500
HP:0005930	Abnormal epiphysis morphology	633	BGN	OMIM:300106
HP:0005930	Abnormal epiphysis morphology	6628	SNRPB	OMIM:117650
HP:0005930	Abnormal epiphysis morphology	538	ATP7A	ORPHA:198
HP:0005930	Abnormal epiphysis morphology	55898	UNC45A	OMIM:619377
HP:0005930	Abnormal epiphysis morphology	26277	TINF2	OMIM:613990
HP:0005930	Abnormal epiphysis morphology	91754	NEK9	OMIM:614262
HP:0005930	Abnormal epiphysis morphology	9652	SKIC3	OMIM:222470
HP:0005930	Abnormal epiphysis morphology	1857	DVL3	ORPHA:3107
HP:0005930	Abnormal epiphysis morphology	7474	WNT5A	ORPHA:3107
HP:0005930	Abnormal epiphysis morphology	1855	DVL1	ORPHA:3107
HP:0005930	Abnormal epiphysis morphology	2535	FZD2	ORPHA:3107
HP:0005930	Abnormal epiphysis morphology	1387	CREBBP	ORPHA:353277
HP:0005930	Abnormal epiphysis morphology	1387	CREBBP	ORPHA:353281
HP:0005930	Abnormal epiphysis morphology	2335	FN1	ORPHA:93315
HP:0005930	Abnormal epiphysis morphology	81031	SLC2A10	ORPHA:3342
HP:0005930	Abnormal epiphysis morphology	9509	ADAMTS2	ORPHA:1901
HP:0005930	Abnormal epiphysis morphology	11277	TREX1	ORPHA:247691
HP:0005930	Abnormal epiphysis morphology	2033	EP300	ORPHA:353284
HP:0005930	Abnormal epiphysis morphology	25782	RAB3GAP2	OMIM:212720
HP:0005930	Abnormal epiphysis morphology	64374	SIL1	ORPHA:559
HP:0005930	Abnormal epiphysis morphology	5447	POR	ORPHA:95699
HP:0005930	Abnormal epiphysis morphology	176	ACAN	ORPHA:93283
HP:0005930	Abnormal epiphysis morphology	5251	PHEX	ORPHA:89936
HP:0005930	Abnormal epiphysis morphology	4318	MMP9	ORPHA:1040
HP:0005930	Abnormal epiphysis morphology	4322	MMP13	ORPHA:1040
HP:0005930	Abnormal epiphysis morphology	4322	MMP13	ORPHA:2501
HP:0005930	Abnormal epiphysis morphology	64840	PORCN	ORPHA:2092
HP:0005930	Abnormal epiphysis morphology	5626	PROP1	ORPHA:226307
HP:0005930	Abnormal epiphysis morphology	89884	LHX4	ORPHA:226307
HP:0005930	Abnormal epiphysis morphology	8022	LHX3	ORPHA:226307
HP:0005930	Abnormal epiphysis morphology	5449	POU1F1	ORPHA:226307
HP:0005930	Abnormal epiphysis morphology	8820	HESX1	ORPHA:226307
HP:0005930	Abnormal epiphysis morphology	5781	PTPN11	ORPHA:2499
HP:0005930	Abnormal epiphysis morphology	652	BMP4	ORPHA:828
HP:0005930	Abnormal epiphysis morphology	7305	TYROBP	ORPHA:2770
HP:0005930	Abnormal epiphysis morphology	54209	TREM2	ORPHA:2770
HP:0005930	Abnormal epiphysis morphology	1836	SLC26A2	ORPHA:628
HP:0005930	Abnormal epiphysis morphology	65992	DDRGK1	ORPHA:93352
HP:0005930	Abnormal epiphysis morphology	3425	IDUA	ORPHA:93473
HP:0005930	Abnormal epiphysis morphology	90459	ERI1	OMIM:620662
HP:0005930	Abnormal epiphysis morphology	9935	MAFB	ORPHA:2774
HP:0005930	Abnormal epiphysis morphology	2317	FLNB	ORPHA:503
HP:0005930	Abnormal epiphysis morphology	10312	TCIRG1	ORPHA:667
HP:0005930	Abnormal epiphysis morphology	1186	CLCN7	ORPHA:667
HP:0005930	Abnormal epiphysis morphology	1186	CLCN7	ORPHA:53
HP:0005930	Abnormal epiphysis morphology	29887	SNX10	ORPHA:667
HP:0005930	Abnormal epiphysis morphology	8600	TNFSF11	ORPHA:667
HP:0005930	Abnormal epiphysis morphology	6595	SMARCA2	ORPHA:3051
HP:0005930	Abnormal epiphysis morphology	9496	TBX4	ORPHA:1509
HP:0005930	Abnormal epiphysis morphology	9496	TBX4	ORPHA:261279
HP:0005930	Abnormal epiphysis morphology	5130	PCYT1A	ORPHA:85167
HP:0005930	Abnormal epiphysis morphology	4952	OCRL	ORPHA:534
HP:0005930	Abnormal epiphysis morphology	7253	TSHR	ORPHA:90673
HP:0005930	Abnormal epiphysis morphology	11107	PRDM5	ORPHA:90354
HP:0005930	Abnormal epiphysis morphology	84627	ZNF469	ORPHA:90354
HP:0005930	Abnormal epiphysis morphology	1297	COL9A1	ORPHA:166002
HP:0005930	Abnormal epiphysis morphology	1297	COL9A1	ORPHA:250984
HP:0005930	Abnormal epiphysis morphology	1298	COL9A2	ORPHA:166002
HP:0005930	Abnormal epiphysis morphology	1298	COL9A2	ORPHA:250984
HP:0005930	Abnormal epiphysis morphology	1299	COL9A3	ORPHA:166002
HP:0005930	Abnormal epiphysis morphology	1299	COL9A3	ORPHA:250984
HP:0005930	Abnormal epiphysis morphology	7252	TSHB	ORPHA:90674
HP:0005930	Abnormal epiphysis morphology	64327	LMBR1	ORPHA:931
HP:0005930	Abnormal epiphysis morphology	55670	PEX26	ORPHA:772
HP:0005930	Abnormal epiphysis morphology	5824	PEX19	ORPHA:772
HP:0005930	Abnormal epiphysis morphology	5828	PEX2	ORPHA:772
HP:0005930	Abnormal epiphysis morphology	8504	PEX3	ORPHA:772
HP:0005930	Abnormal epiphysis morphology	9409	PEX16	ORPHA:772
HP:0005930	Abnormal epiphysis morphology	5190	PEX6	ORPHA:772
HP:0005930	Abnormal epiphysis morphology	8799	PEX11B	ORPHA:772
HP:0005930	Abnormal epiphysis morphology	5830	PEX5	ORPHA:772
HP:0005930	Abnormal epiphysis morphology	5189	PEX1	ORPHA:772
HP:0005930	Abnormal epiphysis morphology	5193	PEX12	ORPHA:772
HP:0005930	Abnormal epiphysis morphology	5194	PEX13	ORPHA:772
HP:0005930	Abnormal epiphysis morphology	5195	PEX14	ORPHA:772
HP:0005930	Abnormal epiphysis morphology	5192	PEX10	ORPHA:772
HP:0005930	Abnormal epiphysis morphology	6335	SCN9A	ORPHA:970
HP:0005930	Abnormal epiphysis morphology	65125	WNK1	ORPHA:970
HP:0005930	Abnormal epiphysis morphology	54463	RETREG1	ORPHA:970
HP:0005930	Abnormal epiphysis morphology	547	KIF1A	ORPHA:970
HP:0005930	Abnormal epiphysis morphology	5264	PHYH	ORPHA:773
HP:0005930	Abnormal epiphysis morphology	5191	PEX7	ORPHA:773
HP:0005930	Abnormal epiphysis morphology	6023	RMRP	ORPHA:175
HP:0005930	Abnormal epiphysis morphology	8200	GDF5	ORPHA:63442
HP:0005930	Abnormal epiphysis morphology	8200	GDF5	ORPHA:2639
HP:0005930	Abnormal epiphysis morphology	405753	DUOXA2	ORPHA:95716
HP:0005930	Abnormal epiphysis morphology	6528	SLC5A5	ORPHA:95716
HP:0005930	Abnormal epiphysis morphology	7038	TG	ORPHA:95716
HP:0005930	Abnormal epiphysis morphology	7173	TPO	ORPHA:95716
HP:0005930	Abnormal epiphysis morphology	389434	IYD	ORPHA:95716
HP:0005930	Abnormal epiphysis morphology	50506	DUOX2	ORPHA:95716
HP:0005930	Abnormal epiphysis morphology	23483	TGDS	ORPHA:1388
HP:0005930	Abnormal epiphysis morphology	55325	UFSP2	ORPHA:2114
HP:0005930	Abnormal epiphysis morphology	5116	PCNT	ORPHA:2637
HP:0005930	Abnormal epiphysis morphology	658	BMPR1B	ORPHA:2639
HP:0005930	Abnormal epiphysis morphology	92344	GORAB	ORPHA:2078
HP:0005930	Abnormal epiphysis morphology	5831	PYCR1	ORPHA:2078
HP:0005930	Abnormal epiphysis morphology	2200	FBN1	ORPHA:969
HP:0005930	Abnormal epiphysis morphology	4054	LTBP3	ORPHA:969
HP:0005930	Abnormal epiphysis morphology	100151683	RNU4ATAC	ORPHA:1824
HP:0005930	Abnormal epiphysis morphology	3248	HPGD	ORPHA:2796
HP:0005930	Abnormal epiphysis morphology	6578	SLCO2A1	ORPHA:2796
HP:0005930	Abnormal epiphysis morphology	81620	CDT1	ORPHA:2554
HP:0005930	Abnormal epiphysis morphology	5000	ORC4	ORPHA:2554
HP:0005930	Abnormal epiphysis morphology	23594	ORC6	ORPHA:2554
HP:0005930	Abnormal epiphysis morphology	8318	CDC45	ORPHA:2554
HP:0005930	Abnormal epiphysis morphology	990	CDC6	ORPHA:2554
HP:0005930	Abnormal epiphysis morphology	4998	ORC1	ORPHA:2554
HP:0005930	Abnormal epiphysis morphology	51053	GMNN	ORPHA:2554
HP:0005930	Abnormal epiphysis morphology	6473	SHOX	ORPHA:2632
HP:0005930	Abnormal epiphysis morphology	6473	SHOX	ORPHA:240
HP:0005930	Abnormal epiphysis morphology	3339	HSPG2	ORPHA:800
HP:0005930	Abnormal epiphysis morphology	5745	PTH1R	ORPHA:50945
HP:0005930	Abnormal epiphysis morphology	1280	COL2A1	ORPHA:90653
HP:0005930	Abnormal epiphysis morphology	3636	INPPL1	ORPHA:2746
HP:0005930	Abnormal epiphysis morphology	860	RUNX2	ORPHA:1452
HP:0005930	Abnormal epiphysis morphology	9487	PIGL	ORPHA:3474
HP:0005930	Abnormal epiphysis morphology	9361	LONP1	ORPHA:1458
HP:0005930	Abnormal epiphysis morphology	4089	SMAD4	ORPHA:2588
HP:0005930	Abnormal epiphysis morphology	3756	KCNH1	ORPHA:420561
HP:0005930	Abnormal epiphysis morphology	132884	EVC2	OMIM:225500
HP:0005930	Abnormal epiphysis morphology	2121	EVC	OMIM:225500
HP:0005930	Abnormal epiphysis morphology	6299	SALL1	OMIM:107480
HP:0005930	Abnormal epiphysis morphology	6137	RPL13	OMIM:618728
HP:0005930	Abnormal epiphysis morphology	1301	COL11A1	OMIM:154780
HP:0005930	Abnormal epiphysis morphology	64135	IFIH1	OMIM:182250
HP:0005930	Abnormal epiphysis morphology	5979	RET	OMIM:162300
HP:0005930	Abnormal epiphysis morphology	2972	BRF1	OMIM:616202
HP:0005930	Abnormal epiphysis morphology	6729	SRP54	OMIM:260400
HP:0005930	Abnormal epiphysis morphology	51119	SBDS	OMIM:260400
HP:0005930	Abnormal epiphysis morphology	51119	SBDS	ORPHA:811
HP:0005930	Abnormal epiphysis morphology	134218	DNAJC21	OMIM:260400
HP:0005930	Abnormal epiphysis morphology	134218	DNAJC21	ORPHA:811
HP:0005930	Abnormal epiphysis morphology	79631	EFL1	ORPHA:811
HP:0005930	Abnormal epiphysis morphology	54928	BPNT2	OMIM:614078
HP:0005930	Abnormal epiphysis morphology	6197	RPS6KA3	ORPHA:192
HP:0005930	Abnormal epiphysis morphology	7468	NSD2	OMIM:194190
HP:0005930	Abnormal epiphysis morphology	10815	CPLX1	OMIM:194190
HP:0005930	Abnormal epiphysis morphology	1487	CTBP1	OMIM:194190
HP:0005930	Abnormal epiphysis morphology	53834	FGFRL1	OMIM:194190
HP:0005930	Abnormal epiphysis morphology	3954	LETM1	OMIM:194190
HP:0005930	Abnormal epiphysis morphology	4883	NPR3	OMIM:619543
HP:0005930	Abnormal epiphysis morphology	23102	TBC1D2B	ORPHA:397973
HP:0005930	Abnormal epiphysis morphology	56992	KIF15	ORPHA:261323
HP:0005930	Abnormal epiphysis morphology	4750	NEK1	ORPHA:2751
HP:0005930	Abnormal epiphysis morphology	2131	EXT1	ORPHA:502
HP:0005930	Abnormal epiphysis morphology	5885	RAD21	ORPHA:502
HP:0005930	Abnormal epiphysis morphology	10847	SRCAP	OMIM:136140
HP:0005930	Abnormal epiphysis morphology	375056	MIA3	OMIM:619269
HP:0005930	Abnormal epiphysis morphology	51098	IFT52	OMIM:617102
HP:0005930	Abnormal epiphysis morphology	2316	FLNA	OMIM:309350
HP:0005930	Abnormal epiphysis morphology	2316	FLNA	ORPHA:2484
HP:0005930	Abnormal epiphysis morphology	2074	ERCC6	OMIM:133540
HP:0005930	Abnormal epiphysis morphology	1161	ERCC8	OMIM:216400
HP:0005930	Abnormal epiphysis morphology	28957	MRPS28	OMIM:618958
HP:0005930	Abnormal epiphysis morphology	51715	RAB23	OMIM:201000
HP:0005930	Abnormal epiphysis morphology	60561	RINT1	OMIM:618641
HP:0005930	Abnormal epiphysis morphology	9851	KIAA0753	ORPHA:474
HP:0005930	Abnormal epiphysis morphology	55112	DYNC2I1	ORPHA:474
HP:0005930	Abnormal epiphysis morphology	26160	IFT172	ORPHA:474
HP:0005930	Abnormal epiphysis morphology	153241	CEP120	ORPHA:474
HP:0005930	Abnormal epiphysis morphology	57560	IFT80	ORPHA:474
HP:0005930	Abnormal epiphysis morphology	51626	DYNC2LI1	ORPHA:474
HP:0005930	Abnormal epiphysis morphology	51626	DYNC2LI1	OMIM:617088
HP:0005930	Abnormal epiphysis morphology	79659	DYNC2H1	ORPHA:474
HP:0005930	Abnormal epiphysis morphology	79659	DYNC2H1	OMIM:613091
HP:0005930	Abnormal epiphysis morphology	9742	IFT140	ORPHA:474
HP:0005930	Abnormal epiphysis morphology	57728	WDR19	ORPHA:474
HP:0005930	Abnormal epiphysis morphology	57728	WDR19	ORPHA:3156
HP:0005930	Abnormal epiphysis morphology	89891	DYNC2I2	ORPHA:474
HP:0005930	Abnormal epiphysis morphology	79809	TTC21B	ORPHA:474
HP:0005930	Abnormal epiphysis morphology	5573	PRKAR1A	ORPHA:950
HP:0005930	Abnormal epiphysis morphology	5144	PDE4D	ORPHA:950
HP:0005930	Abnormal epiphysis morphology	5144	PDE4D	ORPHA:439822
HP:0005930	Abnormal epiphysis morphology	5144	PDE4D	OMIM:614613
HP:0005930	Abnormal epiphysis morphology	9321	TRIP11	ORPHA:166272
HP:0005930	Abnormal epiphysis morphology	286053	NSMCE2	OMIM:617253
HP:0005930	Abnormal epiphysis morphology	3549	IHH	ORPHA:63446
HP:0005930	Abnormal epiphysis morphology	3549	IHH	OMIM:607778
HP:0005930	Abnormal epiphysis morphology	3549	IHH	ORPHA:93388
HP:0005930	Abnormal epiphysis morphology	89970	RSPRY1	ORPHA:457395
HP:0005930	Abnormal epiphysis morphology	545	ATR	ORPHA:808
HP:0005930	Abnormal epiphysis morphology	1062	CENPE	ORPHA:808
HP:0005930	Abnormal epiphysis morphology	5932	RBBP8	ORPHA:808
HP:0005930	Abnormal epiphysis morphology	79902	NUP85	ORPHA:808
HP:0005930	Abnormal epiphysis morphology	84126	ATRIP	ORPHA:808
HP:0005930	Abnormal epiphysis morphology	10293	TRAIP	ORPHA:808
HP:0005930	Abnormal epiphysis morphology	1763	DNA2	ORPHA:808
HP:0005930	Abnormal epiphysis morphology	22995	CEP152	ORPHA:808
HP:0005930	Abnormal epiphysis morphology	10733	PLK4	ORPHA:808
HP:0005930	Abnormal epiphysis morphology	2261	FGFR3	ORPHA:53271
HP:0005930	Abnormal epiphysis morphology	9719	ADAMTSL2	OMIM:231050
HP:0005930	Abnormal epiphysis morphology	8481	OFD1	ORPHA:2750
HP:0005930	Abnormal epiphysis morphology	5293	PIK3CD	ORPHA:221139
HP:0005930	Abnormal epiphysis morphology	5293	PIK3CD	OMIM:613328
HP:0005930	Abnormal epiphysis morphology	90417	KNSTRN	ORPHA:221139
HP:0005930	Abnormal epiphysis morphology	90417	KNSTRN	OMIM:613328
HP:0005930	Abnormal epiphysis morphology	5139	PDE3A	OMIM:112410
HP:0005930	Abnormal epiphysis morphology	79848	CSPP1	ORPHA:397715
HP:0005930	Abnormal epiphysis morphology	9786	KIAA0586	ORPHA:397715
HP:0005930	Abnormal epiphysis morphology	9578	CDC42BPB	OMIM:619841
HP:0005930	Abnormal epiphysis morphology	6885	MAP3K7	OMIM:157800
HP:0005930	Abnormal epiphysis morphology	57178	ZMIZ1	OMIM:618659
HP:0005930	Abnormal epiphysis morphology	25886	POC1A	OMIM:614813
HP:0005930	Abnormal epiphysis morphology	26146	TRAF3IP1	ORPHA:3156
HP:0005930	Abnormal epiphysis morphology	9657	IQCB1	ORPHA:3156
HP:0005930	Abnormal epiphysis morphology	10806	SDCCAG8	ORPHA:3156
HP:0005930	Abnormal epiphysis morphology	27130	INVS	ORPHA:3156
HP:0005930	Abnormal epiphysis morphology	80184	CEP290	ORPHA:3156
HP:0005930	Abnormal epiphysis morphology	4867	NPHP1	ORPHA:3156
HP:0005930	Abnormal epiphysis morphology	261734	NPHP4	ORPHA:3156
HP:0005930	Abnormal epiphysis morphology	27031	NPHP3	ORPHA:3156
HP:0005930	Abnormal epiphysis morphology	22897	CEP164	ORPHA:3156
HP:0005930	Abnormal epiphysis morphology	9241	NOG	ORPHA:3237
HP:0005930	Abnormal epiphysis morphology	2254	FGF9	ORPHA:3237
HP:0005930	Abnormal epiphysis morphology	7227	TRPS1	ORPHA:77258
HP:0005930	Abnormal epiphysis morphology	25839	COG4	OMIM:618150
HP:0005930	Abnormal epiphysis morphology	5295	PIK3R1	OMIM:269880
HP:0005930	Abnormal epiphysis morphology	150468	CKAP2L	ORPHA:3255
HP:0005930	Abnormal epiphysis morphology	579	NKX3-2	OMIM:613330
HP:0005930	Abnormal epiphysis morphology	64802	NMNAT1	OMIM:619260
HP:0005930	Abnormal epiphysis morphology	23387	SIK3	OMIM:618162
HP:0005930	Abnormal epiphysis morphology	54187	NANS	OMIM:610442
HP:0005930	Abnormal epiphysis morphology	6399	TRAPPC2	OMIM:313400
HP:0005930	Abnormal epiphysis morphology	3209	HOXA13	OMIM:140000
HP:0005930	Abnormal epiphysis morphology	347734	SLC35B2	OMIM:620269
HP:0005930	Abnormal epiphysis morphology	91147	TMEM67	ORPHA:140976
HP:0005930	Abnormal epiphysis morphology	3930	LBR	OMIM:215140
HP:0005930	Abnormal epiphysis morphology	415	ARSL	OMIM:302950
HP:0005930	Abnormal epiphysis morphology	415	ARSL	ORPHA:79345
HP:0005930	Abnormal epiphysis morphology	4921	DDR2	OMIM:271665
HP:0005930	Abnormal epiphysis morphology	57020	VPS35L	OMIM:619135
HP:0005930	Abnormal epiphysis morphology	4256	MGP	OMIM:245150
HP:0005930	Abnormal epiphysis morphology	2677	GGCX	OMIM:277450
HP:0005930	Abnormal epiphysis morphology	50814	NSDHL	OMIM:308050
HP:0005930	Abnormal epiphysis morphology	7068	THRB	OMIM:274300
HP:0005930	Abnormal epiphysis morphology	4758	NEU1	OMIM:256550
HP:0005930	Abnormal epiphysis morphology	10682	EBP	OMIM:302960
HP:0005930	Abnormal epiphysis morphology	10682	EBP	ORPHA:35173
HP:0005930	Abnormal epiphysis morphology	2990	GUSB	ORPHA:584
HP:0005930	Abnormal epiphysis morphology	1717	DHCR7	OMIM:270400
HP:0005930	Abnormal epiphysis morphology	8540	AGPS	OMIM:600121
HP:0005930	Abnormal epiphysis morphology	8443	GNPAT	OMIM:222765
HP:0005930	Abnormal epiphysis morphology	388015	RTL1	ORPHA:96334
HP:0005930	Abnormal epiphysis morphology	8788	DLK1	ORPHA:96334
HP:0005930	Abnormal epiphysis morphology	55384	MEG3	ORPHA:96334
HP:0005930	Abnormal epiphysis morphology	1277	COL1A1	OMIM:166220
HP:0005930	Abnormal epiphysis morphology	1277	COL1A1	OMIM:259420
HP:0005930	Abnormal epiphysis morphology	1278	COL1A2	OMIM:166220
HP:0005930	Abnormal epiphysis morphology	1278	COL1A2	OMIM:259420
HP:0005930	Abnormal epiphysis morphology	5034	P4HB	OMIM:112240
HP:0005932	Abnormal renal corticomedullary differentiation	3458	IFNG	OMIM:613254
HP:0005932	Abnormal renal corticomedullary differentiation	7249	TSC2	OMIM:613254
HP:0005932	Abnormal renal corticomedullary differentiation	8364	H4C3	OMIM:619758
HP:0005932	Abnormal renal corticomedullary differentiation	27130	INVS	OMIM:602088
HP:0005932	Abnormal renal corticomedullary differentiation	5087	PBX1	OMIM:617641
HP:0005932	Abnormal renal corticomedullary differentiation	5076	PAX2	OMIM:120330
HP:0005932	Abnormal renal corticomedullary differentiation	5314	PKHD1	OMIM:263200
HP:0005932	Abnormal renal corticomedullary differentiation	81	ACTN4	OMIM:603278
HP:0005932	Abnormal renal corticomedullary differentiation	7369	UMOD	OMIM:162000
HP:0005932	Abnormal renal corticomedullary differentiation	7809	BSND	OMIM:602522
HP:0005932	Abnormal renal corticomedullary differentiation	26276	VPS33B	OMIM:208085
HP:0005932	Abnormal renal corticomedullary differentiation	1186	CLCN7	OMIM:618541
HP:0005932	Abnormal renal corticomedullary differentiation	9742	IFT140	OMIM:266920
HP:0005932	Abnormal renal corticomedullary differentiation	7289	TULP3	OMIM:619902
HP:0005932	Abnormal renal corticomedullary differentiation	199221	DZIP1L	OMIM:617610
HP:0005932	Abnormal renal corticomedullary differentiation	199221	DZIP1L	ORPHA:731
HP:0005932	Abnormal renal corticomedullary differentiation	80184	CEP290	OMIM:610188
HP:0005932	Abnormal renal corticomedullary differentiation	25836	NIPBL	OMIM:122470
HP:0005932	Abnormal renal corticomedullary differentiation	51473	DCDC2	ORPHA:84081
HP:0005932	Abnormal renal corticomedullary differentiation	91147	TMEM67	ORPHA:84081
HP:0005932	Abnormal renal corticomedullary differentiation	8449	DHX16	OMIM:618733
HP:0005932	Abnormal renal corticomedullary differentiation	10015	PDCD6IP	OMIM:620047
HP:0005932	Abnormal renal corticomedullary differentiation	10229	COQ7	OMIM:616733
HP:0005932	Abnormal renal corticomedullary differentiation	11274	USP18	OMIM:617397
HP:0009726	Renal neoplasm	11281	POU6F2	OMIM:601583
HP:0009726	Renal neoplasm	11281	POU6F2	ORPHA:654
HP:0009726	Renal neoplasm	716	C1S	OMIM:617174
HP:0009726	Renal neoplasm	9158	FIBP	ORPHA:500095
HP:0009726	Renal neoplasm	9158	FIBP	OMIM:617107
HP:0009726	Renal neoplasm	9759	HDAC4	ORPHA:1001
HP:0009726	Renal neoplasm	5978	REST	OMIM:616806
HP:0009726	Renal neoplasm	5978	REST	ORPHA:654
HP:0009726	Renal neoplasm	7490	WT1	ORPHA:347
HP:0009726	Renal neoplasm	7490	WT1	ORPHA:220
HP:0009726	Renal neoplasm	7490	WT1	ORPHA:654
HP:0009726	Renal neoplasm	7490	WT1	OMIM:256370
HP:0009726	Renal neoplasm	7490	WT1	OMIM:194080
HP:0009726	Renal neoplasm	7490	WT1	ORPHA:251510
HP:0009726	Renal neoplasm	7490	WT1	OMIM:194072
HP:0009726	Renal neoplasm	7490	WT1	OMIM:194070
HP:0009726	Renal neoplasm	2132	EXT2	ORPHA:52022
HP:0009726	Renal neoplasm	60529	ALX4	ORPHA:52022
HP:0009726	Renal neoplasm	51317	PHF21A	ORPHA:52022
HP:0009726	Renal neoplasm	79728	PALB2	OMIM:610832
HP:0009726	Renal neoplasm	9319	TRIP13	ORPHA:654
HP:0009726	Renal neoplasm	9319	TRIP13	OMIM:617598
HP:0009726	Renal neoplasm	9319	TRIP13	ORPHA:1052
HP:0009726	Renal neoplasm	10155	TRIM28	ORPHA:654
HP:0009726	Renal neoplasm	2719	GPC3	ORPHA:654
HP:0009726	Renal neoplasm	2719	GPC3	ORPHA:373
HP:0009726	Renal neoplasm	2719	GPC3	OMIM:312870
HP:0009726	Renal neoplasm	2719	GPC3	OMIM:194070
HP:0009726	Renal neoplasm	283120	H19	ORPHA:654
HP:0009726	Renal neoplasm	283120	H19	ORPHA:2128
HP:0009726	Renal neoplasm	283120	H19	OMIM:194070
HP:0009726	Renal neoplasm	3481	IGF2	ORPHA:2128
HP:0009726	Renal neoplasm	3481	IGF2	OMIM:130650
HP:0009726	Renal neoplasm	3481	IGF2	OMIM:180860
HP:0009726	Renal neoplasm	3481	IGF2	OMIM:194070
HP:0009726	Renal neoplasm	10984	KCNQ1OT1	ORPHA:2128
HP:0009726	Renal neoplasm	10984	KCNQ1OT1	OMIM:130650
HP:0009726	Renal neoplasm	2239	GPC4	ORPHA:373
HP:0009726	Renal neoplasm	2239	GPC4	OMIM:312870
HP:0009726	Renal neoplasm	2239	GPC4	OMIM:194070
HP:0009726	Renal neoplasm	1028	CDKN1C	OMIM:130650
HP:0009726	Renal neoplasm	3784	KCNQ1	OMIM:130650
HP:0009726	Renal neoplasm	5727	PTCH1	ORPHA:77301
HP:0009726	Renal neoplasm	641	BLM	ORPHA:125
HP:0009726	Renal neoplasm	171023	ASXL1	ORPHA:97297
HP:0009726	Renal neoplasm	9184	BUB3	ORPHA:1052
HP:0009726	Renal neoplasm	9702	CEP57	ORPHA:1052
HP:0009726	Renal neoplasm	4591	TRIM37	OMIM:253250
HP:0009726	Renal neoplasm	6662	SOX9	ORPHA:251510
HP:0009726	Renal neoplasm	6845	VAMP7	ORPHA:251510
HP:0009726	Renal neoplasm	51741	WWOX	ORPHA:251510
HP:0009726	Renal neoplasm	4214	MAP3K1	ORPHA:251510
HP:0009726	Renal neoplasm	2516	NR5A1	ORPHA:251510
HP:0009726	Renal neoplasm	57647	DHX37	ORPHA:251510
HP:0009726	Renal neoplasm	6736	SRY	ORPHA:251510
HP:0009726	Renal neoplasm	23414	ZFPM2	ORPHA:251510
HP:0009726	Renal neoplasm	190	NR0B1	ORPHA:251510
HP:0009726	Renal neoplasm	2626	GATA4	ORPHA:251510
HP:0009726	Renal neoplasm	161742	SPRED1	ORPHA:137605
HP:0009726	Renal neoplasm	5080	PAX6	OMIM:194072
HP:0009726	Renal neoplasm	26040	SETBP1	ORPHA:798
HP:0009726	Renal neoplasm	56980	PRDM10	ORPHA:122
HP:0009726	Renal neoplasm	7428	VHL	ORPHA:892
HP:0009726	Renal neoplasm	7428	VHL	ORPHA:29072
HP:0009726	Renal neoplasm	7428	VHL	OMIM:193300
HP:0009726	Renal neoplasm	7428	VHL	OMIM:144700
HP:0009726	Renal neoplasm	595	CCND1	ORPHA:892
HP:0009726	Renal neoplasm	595	CCND1	OMIM:114500
HP:0009726	Renal neoplasm	595	CCND1	OMIM:193300
HP:0009726	Renal neoplasm	699	BUB1	OMIM:114500
HP:0009726	Renal neoplasm	581	BAX	OMIM:114500
HP:0009726	Renal neoplasm	25788	RAD54B	OMIM:114500
HP:0009726	Renal neoplasm	5795	PTPRJ	OMIM:114500
HP:0009726	Renal neoplasm	5157	PDGFRL	OMIM:114500
HP:0009726	Renal neoplasm	1630	DCC	OMIM:114500
HP:0009726	Renal neoplasm	207	AKT1	OMIM:114500
HP:0009726	Renal neoplasm	207	AKT1	ORPHA:201
HP:0009726	Renal neoplasm	673	BRAF	OMIM:114500
HP:0009726	Renal neoplasm	10395	DLC1	OMIM:114500
HP:0009726	Renal neoplasm	8313	AXIN2	OMIM:114500
HP:0009726	Renal neoplasm	4163	MCC	OMIM:114500
HP:0009726	Renal neoplasm	2261	FGFR3	OMIM:114500
HP:0009726	Renal neoplasm	7097	TLR2	OMIM:114500
HP:0009726	Renal neoplasm	6714	SRC	OMIM:114500
HP:0009726	Renal neoplasm	2033	EP300	OMIM:114500
HP:0009726	Renal neoplasm	27030	MLH3	OMIM:114500
HP:0009726	Renal neoplasm	5320	PLA2G2A	OMIM:114500
HP:0009726	Renal neoplasm	1499	CTNNB1	OMIM:114500
HP:0009726	Renal neoplasm	6790	AURKA	OMIM:114500
HP:0009726	Renal neoplasm	4893	NRAS	OMIM:114500
HP:0009726	Renal neoplasm	324	APC	OMIM:114500
HP:0009726	Renal neoplasm	701	BUB1B	OMIM:114500
HP:0009726	Renal neoplasm	5782	PTPN12	OMIM:114500
HP:0009726	Renal neoplasm	10483	SEC23B	ORPHA:201
HP:0009726	Renal neoplasm	5728	PTEN	ORPHA:201
HP:0009726	Renal neoplasm	6390	SDHB	ORPHA:201
HP:0009726	Renal neoplasm	6390	SDHB	OMIM:115310
HP:0009726	Renal neoplasm	6390	SDHB	ORPHA:29072
HP:0009726	Renal neoplasm	6392	SDHD	ORPHA:201
HP:0009726	Renal neoplasm	6392	SDHD	ORPHA:29072
HP:0009726	Renal neoplasm	6391	SDHC	ORPHA:201
HP:0009726	Renal neoplasm	6391	SDHC	ORPHA:29072
HP:0009726	Renal neoplasm	205717	USF3	ORPHA:201
HP:0009726	Renal neoplasm	7030	TFE3	OMIM:300854
HP:0009726	Renal neoplasm	3458	IFNG	OMIM:613254
HP:0009726	Renal neoplasm	3458	IFNG	ORPHA:805
HP:0009726	Renal neoplasm	79798	ARMC5	ORPHA:189427
HP:0009726	Renal neoplasm	23028	KDM1A	ORPHA:189427
HP:0009726	Renal neoplasm	2778	GNAS	ORPHA:189427
HP:0009726	Renal neoplasm	2271	FH	OMIM:150800
HP:0009726	Renal neoplasm	2271	FH	ORPHA:29072
HP:0009726	Renal neoplasm	8314	BAP1	OMIM:614327
HP:0009726	Renal neoplasm	6794	STK11	ORPHA:2869
HP:0009726	Renal neoplasm	1743	DLST	ORPHA:29072
HP:0009726	Renal neoplasm	4191	MDH2	ORPHA:29072
HP:0009726	Renal neoplasm	5979	RET	ORPHA:29072
HP:0009726	Renal neoplasm	6389	SDHA	ORPHA:29072
HP:0009726	Renal neoplasm	23095	KIF1B	ORPHA:29072
HP:0009726	Renal neoplasm	8402	SLC25A11	ORPHA:29072
HP:0009726	Renal neoplasm	54949	SDHAF2	ORPHA:29072
HP:0009726	Renal neoplasm	55654	TMEM127	ORPHA:29072
HP:0009726	Renal neoplasm	4763	NF1	ORPHA:29072
HP:0009726	Renal neoplasm	4149	MAX	ORPHA:29072
HP:0009726	Renal neoplasm	55193	PBRM1	OMIM:144700
HP:0009726	Renal neoplasm	6927	HNF1A	OMIM:144700
HP:0009726	Renal neoplasm	4968	OGG1	OMIM:144700
HP:0009726	Renal neoplasm	11236	RNF139	OMIM:144700
HP:0009726	Renal neoplasm	6928	HNF1B	OMIM:144700
HP:0009726	Renal neoplasm	6928	HNF1B	ORPHA:93111
HP:0009726	Renal neoplasm	9817	KEAP1	ORPHA:276399
HP:0009726	Renal neoplasm	23405	DICER1	ORPHA:276399
HP:0009726	Renal neoplasm	7373	COL14A1	ORPHA:79501
HP:0009726	Renal neoplasm	79719	AAGAB	ORPHA:79501
HP:0009726	Renal neoplasm	79577	CDC73	OMIM:145001
HP:0009726	Renal neoplasm	2304	FOXE1	ORPHA:319487
HP:0009726	Renal neoplasm	3026	HABP2	ORPHA:319487
HP:0009726	Renal neoplasm	9562	MINPP1	ORPHA:319487
HP:0009726	Renal neoplasm	4233	MET	OMIM:605074
HP:0009726	Renal neoplasm	5546	PRCC	OMIM:605074
HP:0009726	Renal neoplasm	64127	NOD2	ORPHA:90340
HP:0009726	Renal neoplasm	4598	MVK	OMIM:260920
HP:0009726	Renal neoplasm	1027	CDKN1B	OMIM:610755
HP:0009726	Renal neoplasm	1027	CDKN1B	ORPHA:276152
HP:0009726	Renal neoplasm	168667	BMPER	OMIM:608022
HP:0009726	Renal neoplasm	129563	DIS3L2	OMIM:267000
HP:0009726	Renal neoplasm	64218	SEMA4A	ORPHA:440437
HP:0009726	Renal neoplasm	472	ATM	ORPHA:440437
HP:0009726	Renal neoplasm	5426	POLE	ORPHA:440437
HP:0009726	Renal neoplasm	675	BRCA2	ORPHA:440437
HP:0009726	Renal neoplasm	657	BMPR1A	ORPHA:440437
HP:0009726	Renal neoplasm	6224	RPS20	ORPHA:440437
HP:0009726	Renal neoplasm	4595	MUTYH	ORPHA:440437
HP:0009726	Renal neoplasm	5424	POLD1	ORPHA:440437
HP:0009726	Renal neoplasm	11200	CHEK2	ORPHA:440437
HP:0009726	Renal neoplasm	11200	CHEK2	ORPHA:524
HP:0009726	Renal neoplasm	4072	EPCAM	ORPHA:144
HP:0009726	Renal neoplasm	4292	MLH1	ORPHA:144
HP:0009726	Renal neoplasm	5395	PMS2	ORPHA:144
HP:0009726	Renal neoplasm	7048	TGFBR2	ORPHA:144
HP:0009726	Renal neoplasm	3845	KRAS	ORPHA:144
HP:0009726	Renal neoplasm	5290	PIK3CA	ORPHA:144
HP:0009726	Renal neoplasm	2956	MSH6	ORPHA:144
HP:0009726	Renal neoplasm	5378	PMS1	ORPHA:144
HP:0009726	Renal neoplasm	4436	MSH2	ORPHA:144
HP:0009726	Renal neoplasm	126792	B3GALT6	ORPHA:536467
HP:0009726	Renal neoplasm	201163	FLCN	OMIM:135150
HP:0009726	Renal neoplasm	100144748	KLLN	OMIM:615107
HP:0009726	Renal neoplasm	7248	TSC1	ORPHA:538
HP:0009726	Renal neoplasm	7249	TSC2	ORPHA:538
HP:0009726	Renal neoplasm	4000	LMNA	ORPHA:79474
HP:0009726	Renal neoplasm	7486	WRN	ORPHA:902
HP:0009726	Renal neoplasm	7157	TP53	ORPHA:524
HP:0009726	Renal neoplasm	1029	CDKN2A	ORPHA:524
HP:0009726	Renal neoplasm	4193	MDM2	ORPHA:524
HP:0009726	Renal neoplasm	3265	HRAS	ORPHA:2874
HP:0009726	Renal neoplasm	6597	SMARCA4	OMIM:613325
HP:0005934	Imperfect vocal cord adduction	9782	MATR3	ORPHA:600
HP:0008749	Laryngeal hypoplasia	3845	KRAS	ORPHA:3339
HP:0008749	Laryngeal hypoplasia	22858	CILK1	OMIM:612651
HP:0008749	Laryngeal hypoplasia	27152	INTU	OMIM:617925
HP:0008749	Laryngeal hypoplasia	5396	PRRX1	OMIM:202650
HP:0008749	Laryngeal hypoplasia	341640	FREM2	ORPHA:2052
HP:0008749	Laryngeal hypoplasia	80144	FRAS1	ORPHA:2052
HP:0008749	Laryngeal hypoplasia	23426	GRIP1	ORPHA:2052
HP:0008749	Laryngeal hypoplasia	10262	SF3B4	OMIM:154400
HP:0008749	Laryngeal hypoplasia	219844	HYLS1	OMIM:236680
HP:0002104	Apnea	3155	HMGCL	ORPHA:20
HP:0002104	Apnea	4524	MTHFR	ORPHA:395
HP:0002104	Apnea	4728	NDUFS8	OMIM:618222
HP:0002104	Apnea	51422	PRKAG2	OMIM:261740
HP:0002104	Apnea	9759	HDAC4	OMIM:619797
HP:0002104	Apnea	4723	NDUFV1	OMIM:618225
HP:0002104	Apnea	79848	CSPP1	OMIM:615636
HP:0002104	Apnea	79848	CSPP1	ORPHA:397715
HP:0002104	Apnea	79848	CSPP1	ORPHA:475
HP:0002104	Apnea	590	BCHE	OMIM:617936
HP:0002104	Apnea	4719	NDUFS1	OMIM:618226
HP:0002104	Apnea	5332	PLCB4	OMIM:614669
HP:0002104	Apnea	1798	DPAGT1	OMIM:608093
HP:0002104	Apnea	95	ACY1	ORPHA:137754
HP:0002104	Apnea	4720	NDUFS2	OMIM:618228
HP:0002104	Apnea	2653	GCSH	OMIM:620423
HP:0002104	Apnea	53616	ADAM22	OMIM:617933
HP:0002104	Apnea	6334	SCN8A	ORPHA:306
HP:0002104	Apnea	6326	SCN2A	ORPHA:306
HP:0002104	Apnea	6326	SCN2A	ORPHA:140927
HP:0002104	Apnea	6326	SCN2A	OMIM:607745
HP:0002104	Apnea	112476	PRRT2	ORPHA:306
HP:0002104	Apnea	3785	KCNQ2	ORPHA:306
HP:0002104	Apnea	3785	KCNQ2	ORPHA:140927
HP:0002104	Apnea	3785	KCNQ2	ORPHA:1949
HP:0002104	Apnea	3785	KCNQ2	ORPHA:439218
HP:0002104	Apnea	3786	KCNQ3	ORPHA:306
HP:0002104	Apnea	3786	KCNQ3	ORPHA:1949
HP:0002104	Apnea	4703	NEB	OMIM:256030
HP:0002104	Apnea	5830	PEX5	OMIM:214110
HP:0002104	Apnea	2629	GBA1	OMIM:608013
HP:0002104	Apnea	2629	GBA1	OMIM:230900
HP:0002104	Apnea	256297	PTF1A	OMIM:609069
HP:0002104	Apnea	10312	TCIRG1	ORPHA:667
HP:0002104	Apnea	1186	CLCN7	ORPHA:667
HP:0002104	Apnea	29887	SNX10	ORPHA:667
HP:0002104	Apnea	8600	TNFSF11	ORPHA:667
HP:0002104	Apnea	9786	KIAA0586	ORPHA:397715
HP:0002104	Apnea	9786	KIAA0586	ORPHA:475
HP:0002104	Apnea	9786	KIAA0586	OMIM:616490
HP:0002104	Apnea	4535	MT-ND1	ORPHA:255210
HP:0002104	Apnea	4536	MT-ND2	ORPHA:255210
HP:0002104	Apnea	4537	MT-ND3	ORPHA:255210
HP:0002104	Apnea	4538	MT-ND4	ORPHA:255210
HP:0002104	Apnea	4567	MT-TL1	ORPHA:255210
HP:0002104	Apnea	4578	MT-TW	ORPHA:255210
HP:0002104	Apnea	4577	MT-TV	ORPHA:255210
HP:0002104	Apnea	4508	MT-ATP6	ORPHA:255210
HP:0002104	Apnea	4540	MT-ND5	ORPHA:255210
HP:0002104	Apnea	4541	MT-ND6	ORPHA:255210
HP:0002104	Apnea	4566	MT-TK	ORPHA:255210
HP:0002104	Apnea	7259	TSPYL1	OMIM:608800
HP:0002104	Apnea	91942	NDUFAF2	OMIM:618233
HP:0002104	Apnea	60482	SLC5A7	OMIM:617143
HP:0002104	Apnea	6341	SCO1	OMIM:619048
HP:0002104	Apnea	249	ALPL	OMIM:241500
HP:0002104	Apnea	4695	NDUFA2	OMIM:618235
HP:0002104	Apnea	126328	NDUFA11	OMIM:618236
HP:0002104	Apnea	6536	SLC6A9	OMIM:617301
HP:0002104	Apnea	4649	MYO9A	OMIM:618198
HP:0002104	Apnea	23322	RPGRIP1L	ORPHA:220497
HP:0002104	Apnea	23322	RPGRIP1L	ORPHA:1454
HP:0002104	Apnea	4867	NPHP1	ORPHA:220497
HP:0002104	Apnea	65062	TMEM237	ORPHA:220497
HP:0002104	Apnea	65062	TMEM237	ORPHA:2318
HP:0002104	Apnea	65062	TMEM237	ORPHA:475
HP:0002104	Apnea	54806	AHI1	ORPHA:220493
HP:0002104	Apnea	54806	AHI1	ORPHA:475
HP:0002104	Apnea	56623	INPP5E	ORPHA:220493
HP:0002104	Apnea	56623	INPP5E	ORPHA:1454
HP:0002104	Apnea	56623	INPP5E	ORPHA:475
HP:0002104	Apnea	153241	CEP120	ORPHA:220493
HP:0002104	Apnea	153241	CEP120	ORPHA:475
HP:0002104	Apnea	54903	MKS1	ORPHA:220493
HP:0002104	Apnea	54903	MKS1	ORPHA:475
HP:0002104	Apnea	95681	CEP41	ORPHA:220493
HP:0002104	Apnea	95681	CEP41	ORPHA:475
HP:0002104	Apnea	29968	PSAT1	OMIM:610992
HP:0002104	Apnea	6662	SOX9	OMIM:114290
HP:0002104	Apnea	1644	DDC	OMIM:608643
HP:0002104	Apnea	1410	CRYAB	OMIM:613869
HP:0002104	Apnea	6439	SFTPB	OMIM:265120
HP:0002104	Apnea	4784	NFIX	OMIM:602535
HP:0002104	Apnea	4204	MECP2	OMIM:300055
HP:0002104	Apnea	4204	MECP2	OMIM:300673
HP:0002104	Apnea	4204	MECP2	ORPHA:209370
HP:0002104	Apnea	4204	MECP2	OMIM:312750
HP:0002104	Apnea	5105	PCK1	OMIM:261680
HP:0002104	Apnea	55906	ZC4H2	OMIM:314580
HP:0002104	Apnea	8260	NAA10	OMIM:300855
HP:0002104	Apnea	816	CAMK2B	OMIM:617799
HP:0002104	Apnea	6773	STAT2	OMIM:618886
HP:0002104	Apnea	686	BTD	OMIM:253260
HP:0002104	Apnea	686	BTD	ORPHA:79241
HP:0002104	Apnea	114034	TOE1	OMIM:614969
HP:0002104	Apnea	1509	CTSD	OMIM:610127
HP:0002104	Apnea	21	ABCA3	OMIM:610921
HP:0002104	Apnea	54675	CRLS1	OMIM:620167
HP:0002104	Apnea	79583	TMEM231	ORPHA:2318
HP:0002104	Apnea	79583	TMEM231	ORPHA:2754
HP:0002104	Apnea	51524	TMEM138	ORPHA:2318
HP:0002104	Apnea	23090	ZNF423	ORPHA:2318
HP:0002104	Apnea	80184	CEP290	ORPHA:2318
HP:0002104	Apnea	51259	TMEM216	ORPHA:2318
HP:0002104	Apnea	51259	TMEM216	ORPHA:2754
HP:0002104	Apnea	57545	CC2D2A	ORPHA:2318
HP:0002104	Apnea	57545	CC2D2A	ORPHA:1454
HP:0002104	Apnea	57545	CC2D2A	OMIM:612285
HP:0002104	Apnea	5621	PRNP	OMIM:600072
HP:0002104	Apnea	3767	KCNJ11	ORPHA:79644
HP:0002104	Apnea	8604	SLC25A12	OMIM:612949
HP:0002104	Apnea	5095	PCCA	OMIM:606054
HP:0002104	Apnea	5096	PCCB	OMIM:606054
HP:0002104	Apnea	2898	GRIK2	OMIM:619580
HP:0002104	Apnea	6792	CDKL5	ORPHA:505652
HP:0002104	Apnea	171023	ASXL1	ORPHA:97297
HP:0002104	Apnea	9184	BUB3	ORPHA:1052
HP:0002104	Apnea	699	BUB1	ORPHA:1052
HP:0002104	Apnea	9702	CEP57	ORPHA:1052
HP:0002104	Apnea	9319	TRIP13	ORPHA:1052
HP:0002104	Apnea	701	BUB1B	ORPHA:1052
HP:0002104	Apnea	3977	LIFR	OMIM:601559
HP:0002104	Apnea	3977	LIFR	ORPHA:3206
HP:0002104	Apnea	8802	SUCLG1	ORPHA:17
HP:0002104	Apnea	5277	PIGA	OMIM:300868
HP:0002104	Apnea	84314	TMEM107	OMIM:617563
HP:0002104	Apnea	4700	NDUFA6	OMIM:618253
HP:0002104	Apnea	91147	TMEM67	ORPHA:1454
HP:0002104	Apnea	91147	TMEM67	ORPHA:475
HP:0002104	Apnea	23314	SATB2	OMIM:612313
HP:0002104	Apnea	56922	MCCC1	OMIM:210200
HP:0002104	Apnea	2783	GNB2	OMIM:619503
HP:0002104	Apnea	4632	MYL1	OMIM:618414
HP:0002104	Apnea	2752	GLUL	OMIM:610015
HP:0002104	Apnea	9734	HDAC9	OMIM:620457
HP:0002104	Apnea	9152	SLC6A5	OMIM:614618
HP:0002104	Apnea	2773	GNAI3	OMIM:602483
HP:0002104	Apnea	9851	KIAA0753	ORPHA:475
HP:0002104	Apnea	9851	KIAA0753	ORPHA:2754
HP:0002104	Apnea	5147	PDE6D	ORPHA:475
HP:0002104	Apnea	5147	PDE6D	ORPHA:2754
HP:0002104	Apnea	79600	TCTN1	ORPHA:475
HP:0002104	Apnea	8481	OFD1	ORPHA:475
HP:0002104	Apnea	8481	OFD1	ORPHA:2754
HP:0002104	Apnea	51684	SUFU	ORPHA:475
HP:0002104	Apnea	65250	CPLANE1	ORPHA:475
HP:0002104	Apnea	65250	CPLANE1	ORPHA:2754
HP:0002104	Apnea	200894	ARL13B	ORPHA:475
HP:0002104	Apnea	9731	CEP104	ORPHA:475
HP:0002104	Apnea	219844	HYLS1	ORPHA:475
HP:0002104	Apnea	23247	KATNIP	ORPHA:475
HP:0002104	Apnea	219854	TMEM218	ORPHA:475
HP:0002104	Apnea	26123	TCTN3	ORPHA:475
HP:0002104	Apnea	26123	TCTN3	ORPHA:2754
HP:0002104	Apnea	79867	TCTN2	ORPHA:475
HP:0002104	Apnea	80776	B9D2	ORPHA:475
HP:0002104	Apnea	10464	PIBF1	ORPHA:475
HP:0002104	Apnea	10464	PIBF1	OMIM:617767
HP:0002104	Apnea	80210	ARMC9	ORPHA:475
HP:0002104	Apnea	80210	ARMC9	OMIM:617622
HP:0002104	Apnea	23116	TOGARAM1	ORPHA:475
HP:0002104	Apnea	25776	CBY1	ORPHA:475
HP:0002104	Apnea	27077	B9D1	ORPHA:475
HP:0002104	Apnea	403	ARL3	ORPHA:475
HP:0002104	Apnea	80173	IFT74	ORPHA:475
HP:0002104	Apnea	8943	AP3D1	OMIM:617050
HP:0002104	Apnea	11212	PLPBP	OMIM:617290
HP:0002104	Apnea	11019	LIAS	OMIM:614462
HP:0002104	Apnea	8929	PHOX2B	OMIM:209880
HP:0002104	Apnea	8021	NUP214	OMIM:618426
HP:0002104	Apnea	773	CACNA1A	ORPHA:2131
HP:0002104	Apnea	6507	SLC1A3	ORPHA:2131
HP:0002104	Apnea	477	ATP1A2	ORPHA:2131
HP:0002104	Apnea	478	ATP1A3	ORPHA:2131
HP:0002104	Apnea	9289	ADGRG1	ORPHA:98889
HP:0002104	Apnea	5297	PI4KA	ORPHA:98889
HP:0002104	Apnea	27286	SRPX2	ORPHA:98889
HP:0002104	Apnea	6329	SCN4A	ORPHA:99734
HP:0002104	Apnea	6329	SCN4A	OMIM:614198
HP:0002104	Apnea	283446	MYO1H	OMIM:619482
HP:0002104	Apnea	728294	D2HGDH	OMIM:600721
HP:0002104	Apnea	10660	LBX1	OMIM:619483
HP:0002104	Apnea	23522	KAT6B	ORPHA:85201
HP:0002104	Apnea	283989	TSEN54	ORPHA:2524
HP:0002104	Apnea	116461	TSEN15	ORPHA:2524
HP:0002104	Apnea	79042	TSEN34	ORPHA:2524
HP:0002104	Apnea	80746	TSEN2	ORPHA:2524
HP:0002104	Apnea	51091	SEPSECS	ORPHA:2524
HP:0002104	Apnea	4976	OPA1	OMIM:616896
HP:0002104	Apnea	10243	GPHN	OMIM:149400
HP:0002104	Apnea	2741	GLRA1	OMIM:149400
HP:0002104	Apnea	9373	PLAA	ORPHA:521426
HP:0002104	Apnea	9373	PLAA	OMIM:617527
HP:0002104	Apnea	9568	GABBR2	OMIM:617903
HP:0002104	Apnea	57038	RARS2	OMIM:611523
HP:0002104	Apnea	9562	MINPP1	OMIM:619527
HP:0002104	Apnea	7841	MOGS	ORPHA:79330
HP:0002104	Apnea	8241	RBM10	ORPHA:2886
HP:0002104	Apnea	139285	AMER1	OMIM:300373
HP:0002104	Apnea	1376	CPT2	OMIM:608836
HP:0002104	Apnea	2203	FBP1	OMIM:229700
HP:0002104	Apnea	54941	RNF125	OMIM:616260
HP:0002104	Apnea	3798	KIF5A	OMIM:617235
HP:0002104	Apnea	6572	SLC18A3	OMIM:617239
HP:0002104	Apnea	2902	GRIN1	OMIM:619814
HP:0002104	Apnea	4724	NDUFS4	OMIM:252010
HP:0002104	Apnea	5194	PEX13	OMIM:614883
HP:0002104	Apnea	54148	MRPL39	OMIM:620646
HP:0002104	Apnea	4750	NEK1	ORPHA:2751
HP:0002104	Apnea	3339	HSPG2	ORPHA:800
HP:0002104	Apnea	10210	TOPORS	ORPHA:2754
HP:0002104	Apnea	317662	FAM149B1	ORPHA:2754
HP:0002104	Apnea	374654	KIF7	ORPHA:2754
HP:0002104	Apnea	1892	ECHS1	OMIM:616277
HP:0002104	Apnea	51117	COQ4	OMIM:616276
HP:0002104	Apnea	221927	BRAT1	OMIM:618056
HP:0002104	Apnea	221927	BRAT1	OMIM:614498
HP:0002104	Apnea	667	DST	OMIM:614653
HP:0002104	Apnea	27429	HTRA2	OMIM:617248
HP:0002104	Apnea	3329	HSPD1	OMIM:612233
HP:0002104	Apnea	826	CAPNS1	OMIM:620777
HP:0002104	Apnea	2200	FBN1	ORPHA:2462
HP:0002104	Apnea	6497	SKI	ORPHA:2462
HP:0002104	Apnea	498	ATP5F1A	OMIM:615228
HP:0002104	Apnea	5813	PURA	ORPHA:314655
HP:0002104	Apnea	6638	SNRPN	ORPHA:177904
HP:0002104	Apnea	6638	SNRPN	ORPHA:177901
HP:0002104	Apnea	6638	SNRPN	ORPHA:98754
HP:0002104	Apnea	4692	NDN	ORPHA:177904
HP:0002104	Apnea	4692	NDN	ORPHA:177901
HP:0002104	Apnea	4692	NDN	ORPHA:98754
HP:0002104	Apnea	54551	MAGEL2	ORPHA:177904
HP:0002104	Apnea	54551	MAGEL2	ORPHA:177901
HP:0002104	Apnea	54551	MAGEL2	ORPHA:98754
HP:0002104	Apnea	4948	OCA2	ORPHA:177904
HP:0002104	Apnea	4948	OCA2	ORPHA:177901
HP:0002104	Apnea	4948	OCA2	ORPHA:98754
HP:0002104	Apnea	9895	TECPR2	ORPHA:320385
HP:0002104	Apnea	9895	TECPR2	OMIM:615031
HP:0002104	Apnea	2261	FGFR3	OMIM:616482
HP:0002104	Apnea	2260	FGFR1	ORPHA:220386
HP:0002104	Apnea	2260	FGFR1	ORPHA:93924
HP:0002104	Apnea	28514	DLL1	ORPHA:220386
HP:0002104	Apnea	28514	DLL1	ORPHA:93926
HP:0002104	Apnea	28514	DLL1	ORPHA:93924
HP:0002104	Apnea	28514	DLL1	ORPHA:93925
HP:0002104	Apnea	10735	STAG2	ORPHA:220386
HP:0002104	Apnea	10735	STAG2	ORPHA:93925
HP:0002104	Apnea	2253	FGF8	ORPHA:220386
HP:0002104	Apnea	2253	FGF8	ORPHA:93926
HP:0002104	Apnea	2253	FGF8	ORPHA:93924
HP:0002104	Apnea	2253	FGF8	ORPHA:93925
HP:0002104	Apnea	8243	SMC1A	ORPHA:220386
HP:0002104	Apnea	6496	SIX3	ORPHA:220386
HP:0002104	Apnea	6496	SIX3	ORPHA:93926
HP:0002104	Apnea	6496	SIX3	ORPHA:93924
HP:0002104	Apnea	6496	SIX3	ORPHA:93925
HP:0002104	Apnea	7050	TGIF1	ORPHA:220386
HP:0002104	Apnea	7050	TGIF1	ORPHA:93926
HP:0002104	Apnea	7050	TGIF1	ORPHA:93924
HP:0002104	Apnea	7050	TGIF1	ORPHA:93925
HP:0002104	Apnea	4838	NODAL	ORPHA:220386
HP:0002104	Apnea	4838	NODAL	ORPHA:93926
HP:0002104	Apnea	4838	NODAL	ORPHA:93924
HP:0002104	Apnea	4838	NODAL	ORPHA:93925
HP:0002104	Apnea	6469	SHH	ORPHA:220386
HP:0002104	Apnea	6469	SHH	ORPHA:93926
HP:0002104	Apnea	6469	SHH	ORPHA:93924
HP:0002104	Apnea	6469	SHH	ORPHA:93925
HP:0002104	Apnea	7546	ZIC2	ORPHA:220386
HP:0002104	Apnea	7546	ZIC2	ORPHA:93926
HP:0002104	Apnea	7546	ZIC2	ORPHA:93924
HP:0002104	Apnea	7546	ZIC2	ORPHA:93925
HP:0002104	Apnea	6491	STIL	ORPHA:220386
HP:0002104	Apnea	6491	STIL	ORPHA:93926
HP:0002104	Apnea	6491	STIL	ORPHA:93924
HP:0002104	Apnea	6491	STIL	ORPHA:93925
HP:0002104	Apnea	2619	GAS1	ORPHA:220386
HP:0002104	Apnea	2619	GAS1	ORPHA:93926
HP:0002104	Apnea	2619	GAS1	ORPHA:93924
HP:0002104	Apnea	2619	GAS1	ORPHA:93925
HP:0002104	Apnea	84976	DISP1	ORPHA:220386
HP:0002104	Apnea	84976	DISP1	ORPHA:93926
HP:0002104	Apnea	84976	DISP1	ORPHA:93924
HP:0002104	Apnea	84976	DISP1	ORPHA:93925
HP:0002104	Apnea	2736	GLI2	ORPHA:220386
HP:0002104	Apnea	2736	GLI2	ORPHA:93926
HP:0002104	Apnea	2736	GLI2	ORPHA:93924
HP:0002104	Apnea	2736	GLI2	ORPHA:93925
HP:0002104	Apnea	8928	FOXH1	ORPHA:220386
HP:0002104	Apnea	8928	FOXH1	ORPHA:93926
HP:0002104	Apnea	8928	FOXH1	ORPHA:93924
HP:0002104	Apnea	8928	FOXH1	ORPHA:93925
HP:0002104	Apnea	6997	CRIPTO	ORPHA:220386
HP:0002104	Apnea	6997	CRIPTO	ORPHA:93926
HP:0002104	Apnea	6997	CRIPTO	ORPHA:93924
HP:0002104	Apnea	6997	CRIPTO	ORPHA:93925
HP:0002104	Apnea	5727	PTCH1	ORPHA:220386
HP:0002104	Apnea	5727	PTCH1	ORPHA:93926
HP:0002104	Apnea	5727	PTCH1	ORPHA:93924
HP:0002104	Apnea	5727	PTCH1	ORPHA:93925
HP:0002104	Apnea	50937	CDON	ORPHA:220386
HP:0002104	Apnea	50937	CDON	ORPHA:93926
HP:0002104	Apnea	50937	CDON	ORPHA:93924
HP:0002104	Apnea	50937	CDON	ORPHA:93925
HP:0002104	Apnea	54902	TTC19	OMIM:615157
HP:0002104	Apnea	493856	CISD2	ORPHA:3463
HP:0002104	Apnea	7466	WFS1	ORPHA:3463
HP:0002104	Apnea	415	ARSL	ORPHA:79345
HP:0002104	Apnea	23299	BICD2	OMIM:618291
HP:0002104	Apnea	6857	SYT1	ORPHA:522077
HP:0002104	Apnea	23007	PLCH1	ORPHA:93925
HP:0002104	Apnea	4929	NR4A2	ORPHA:1617
HP:0002104	Apnea	10716	TBR1	ORPHA:1617
HP:0002104	Apnea	5660	PSAP	OMIM:611722
HP:0002104	Apnea	26834	RNU4-2	OMIM:620851
HP:0002104	Apnea	6513	SLC2A1	ORPHA:71277
HP:0002104	Apnea	1103	CHAT	OMIM:254210
HP:0002104	Apnea	1103	CHAT	ORPHA:98914
HP:0002104	Apnea	1305	COL13A1	ORPHA:98914
HP:0002104	Apnea	6576	SLC25A1	ORPHA:98914
HP:0002104	Apnea	6843	VAMP1	ORPHA:98914
HP:0002104	Apnea	375790	AGRN	ORPHA:98914
HP:0002104	Apnea	127833	SYT2	ORPHA:98914
HP:0002104	Apnea	6616	SNAP25	ORPHA:98914
HP:0002104	Apnea	1145	CHRNE	OMIM:605809
HP:0002104	Apnea	5160	PDHA1	OMIM:312170
HP:0002104	Apnea	22854	NTNG1	ORPHA:3095
HP:0002104	Apnea	64116	SLC39A8	ORPHA:468699
HP:0002104	Apnea	10667	FARS2	ORPHA:466722
HP:0002104	Apnea	788	SLC25A20	ORPHA:159
HP:0002104	Apnea	2258	FGF13	OMIM:301058
HP:0002104	Apnea	112939	NACC1	ORPHA:500545
HP:0002104	Apnea	9200	HACD1	OMIM:619967
HP:0002104	Apnea	36	ACADSB	OMIM:610006
HP:0002104	Apnea	8398	PLA2G6	ORPHA:35069
HP:0002104	Apnea	6331	SCN5A	OMIM:272120
HP:0002093	Respiratory insufficiency	9131	AIFM1	ORPHA:238329
HP:0002093	Respiratory insufficiency	3763	KCNJ6	ORPHA:435628
HP:0002093	Respiratory insufficiency	3763	KCNJ6	OMIM:614098
HP:0002093	Respiratory insufficiency	54539	NDUFB11	ORPHA:2609
HP:0002093	Respiratory insufficiency	25915	NDUFAF3	ORPHA:2609
HP:0002093	Respiratory insufficiency	51103	NDUFAF1	ORPHA:2609
HP:0002093	Respiratory insufficiency	91942	NDUFAF2	ORPHA:2609
HP:0002093	Respiratory insufficiency	51300	TIMMDC1	ORPHA:2609
HP:0002093	Respiratory insufficiency	4716	NDUFB10	ORPHA:2609
HP:0002093	Respiratory insufficiency	4723	NDUFV1	ORPHA:2609
HP:0002093	Respiratory insufficiency	55572	FOXRED1	ORPHA:2609
HP:0002093	Respiratory insufficiency	55572	FOXRED1	OMIM:618241
HP:0002093	Respiratory insufficiency	284184	NDUFAF8	ORPHA:2609
HP:0002093	Respiratory insufficiency	55863	TMEM126B	ORPHA:2609
HP:0002093	Respiratory insufficiency	4535	MT-ND1	ORPHA:2609
HP:0002093	Respiratory insufficiency	4537	MT-ND3	ORPHA:2609
HP:0002093	Respiratory insufficiency	4729	NDUFV2	ORPHA:2609
HP:0002093	Respiratory insufficiency	4694	NDUFA1	ORPHA:2609
HP:0002093	Respiratory insufficiency	4720	NDUFS2	ORPHA:2609
HP:0002093	Respiratory insufficiency	4720	NDUFS2	OMIM:618228
HP:0002093	Respiratory insufficiency	4724	NDUFS4	ORPHA:2609
HP:0002093	Respiratory insufficiency	4724	NDUFS4	OMIM:252010
HP:0002093	Respiratory insufficiency	4726	NDUFS6	ORPHA:2609
HP:0002093	Respiratory insufficiency	4728	NDUFS8	ORPHA:2609
HP:0002093	Respiratory insufficiency	4728	NDUFS8	OMIM:618222
HP:0002093	Respiratory insufficiency	4722	NDUFS3	ORPHA:2609
HP:0002093	Respiratory insufficiency	4722	NDUFS3	OMIM:618230
HP:0002093	Respiratory insufficiency	79133	NDUFAF5	ORPHA:2609
HP:0002093	Respiratory insufficiency	126328	NDUFA11	ORPHA:2609
HP:0002093	Respiratory insufficiency	4709	NDUFB3	ORPHA:2609
HP:0002093	Respiratory insufficiency	80224	NUBPL	ORPHA:2609
HP:0002093	Respiratory insufficiency	29078	NDUFAF4	ORPHA:2609
HP:0002093	Respiratory insufficiency	374291	NDUFS7	ORPHA:2609
HP:0002093	Respiratory insufficiency	374291	NDUFS7	OMIM:618224
HP:0002093	Respiratory insufficiency	4700	NDUFA6	ORPHA:2609
HP:0002093	Respiratory insufficiency	4700	NDUFA6	OMIM:618253
HP:0002093	Respiratory insufficiency	4536	MT-ND2	ORPHA:2609
HP:0002093	Respiratory insufficiency	4719	NDUFS1	ORPHA:2609
HP:0002093	Respiratory insufficiency	4719	NDUFS1	OMIM:618226
HP:0002093	Respiratory insufficiency	4715	NDUFB9	ORPHA:2609
HP:0002093	Respiratory insufficiency	1144	CHRND	OMIM:616322
HP:0002093	Respiratory insufficiency	1144	CHRND	OMIM:616321
HP:0002093	Respiratory insufficiency	1144	CHRND	OMIM:616323
HP:0002093	Respiratory insufficiency	10046	MAMLD1	ORPHA:456328
HP:0002093	Respiratory insufficiency	4534	MTM1	ORPHA:456328
HP:0002093	Respiratory insufficiency	8506	CNTNAP1	OMIM:618186
HP:0002093	Respiratory insufficiency	5393	EXOSC9	OMIM:618065
HP:0002093	Respiratory insufficiency	4750	NEK1	OMIM:617892
HP:0002093	Respiratory insufficiency	29925	GMPPB	OMIM:615352
HP:0002093	Respiratory insufficiency	29925	GMPPB	ORPHA:370968
HP:0002093	Respiratory insufficiency	29925	GMPPB	ORPHA:363623
HP:0002093	Respiratory insufficiency	51569	UFM1	OMIM:617899
HP:0002093	Respiratory insufficiency	5913	RAPSN	OMIM:616326
HP:0002093	Respiratory insufficiency	5913	RAPSN	ORPHA:994
HP:0002093	Respiratory insufficiency	5913	RAPSN	OMIM:618388
HP:0002093	Respiratory insufficiency	80308	FLAD1	OMIM:255100
HP:0002093	Respiratory insufficiency	4593	MUSK	OMIM:616325
HP:0002093	Respiratory insufficiency	4593	MUSK	ORPHA:994
HP:0002093	Respiratory insufficiency	1145	CHRNE	OMIM:616324
HP:0002093	Respiratory insufficiency	1593	CYP27A1	OMIM:213700
HP:0002093	Respiratory insufficiency	4625	MYH7	ORPHA:1880
HP:0002093	Respiratory insufficiency	4625	MYH7	OMIM:255160
HP:0002093	Respiratory insufficiency	7138	TNNT1	OMIM:620389
HP:0002093	Respiratory insufficiency	7138	TNNT1	OMIM:605355
HP:0002093	Respiratory insufficiency	2261	FGFR3	ORPHA:93274
HP:0002093	Respiratory insufficiency	2261	FGFR3	ORPHA:93262
HP:0002093	Respiratory insufficiency	2261	FGFR3	ORPHA:1860
HP:0002093	Respiratory insufficiency	2261	FGFR3	OMIM:187601
HP:0002093	Respiratory insufficiency	3766	KCNJ10	ORPHA:705
HP:0002093	Respiratory insufficiency	2299	FOXI1	ORPHA:705
HP:0002093	Respiratory insufficiency	5172	SLC26A4	ORPHA:705
HP:0002093	Respiratory insufficiency	58	ACTA1	OMIM:620265
HP:0002093	Respiratory insufficiency	58	ACTA1	ORPHA:171436
HP:0002093	Respiratory insufficiency	58	ACTA1	OMIM:161800
HP:0002093	Respiratory insufficiency	58	ACTA1	ORPHA:97244
HP:0002093	Respiratory insufficiency	51	ACOX1	ORPHA:2971
HP:0002093	Respiratory insufficiency	22947	DUX4L1	ORPHA:269
HP:0002093	Respiratory insufficiency	1789	DNMT3B	ORPHA:269
HP:0002093	Respiratory insufficiency	2483	FRG1	ORPHA:269
HP:0002093	Respiratory insufficiency	23347	SMCHD1	ORPHA:269
HP:0002093	Respiratory insufficiency	100288687	DUX4	ORPHA:269
HP:0002093	Respiratory insufficiency	64220	STRA6	OMIM:601186
HP:0002093	Respiratory insufficiency	79581	SLC52A2	OMIM:614707
HP:0002093	Respiratory insufficiency	57176	VARS2	OMIM:615917
HP:0002093	Respiratory insufficiency	9499	MYOT	ORPHA:266
HP:0002093	Respiratory insufficiency	2317	FLNB	ORPHA:56305
HP:0002093	Respiratory insufficiency	2317	FLNB	ORPHA:503
HP:0002093	Respiratory insufficiency	5604	MAP2K1	ORPHA:389
HP:0002093	Respiratory insufficiency	4893	NRAS	ORPHA:389
HP:0002093	Respiratory insufficiency	673	BRAF	ORPHA:389
HP:0002093	Respiratory insufficiency	1373	CPS1	ORPHA:147
HP:0002093	Respiratory insufficiency	1636	ACE	OMIM:267430
HP:0002093	Respiratory insufficiency	183	AGT	OMIM:267430
HP:0002093	Respiratory insufficiency	185	AGTR1	OMIM:267430
HP:0002093	Respiratory insufficiency	5972	REN	OMIM:267430
HP:0002093	Respiratory insufficiency	2617	GARS1	OMIM:619042
HP:0002093	Respiratory insufficiency	6662	SOX9	ORPHA:140
HP:0002093	Respiratory insufficiency	55112	DYNC2I1	ORPHA:93271
HP:0002093	Respiratory insufficiency	55112	DYNC2I1	ORPHA:474
HP:0002093	Respiratory insufficiency	57560	IFT80	ORPHA:93271
HP:0002093	Respiratory insufficiency	57560	IFT80	ORPHA:474
HP:0002093	Respiratory insufficiency	57539	WDR35	ORPHA:93271
HP:0002093	Respiratory insufficiency	79659	DYNC2H1	ORPHA:93271
HP:0002093	Respiratory insufficiency	79659	DYNC2H1	ORPHA:474
HP:0002093	Respiratory insufficiency	89891	DYNC2I2	ORPHA:93271
HP:0002093	Respiratory insufficiency	89891	DYNC2I2	ORPHA:474
HP:0002093	Respiratory insufficiency	89891	DYNC2I2	OMIM:615633
HP:0002093	Respiratory insufficiency	7169	TPM2	ORPHA:171436
HP:0002093	Respiratory insufficiency	4703	NEB	ORPHA:171436
HP:0002093	Respiratory insufficiency	10324	KLHL41	ORPHA:171436
HP:0002093	Respiratory insufficiency	10324	KLHL41	OMIM:615731
HP:0002093	Respiratory insufficiency	56203	LMOD3	ORPHA:171436
HP:0002093	Respiratory insufficiency	1073	CFL2	ORPHA:171436
HP:0002093	Respiratory insufficiency	4141	MARS1	OMIM:615486
HP:0002093	Respiratory insufficiency	375790	AGRN	OMIM:615120
HP:0002093	Respiratory insufficiency	4649	MYO9A	OMIM:618198
HP:0002093	Respiratory insufficiency	387787	LIPT2	OMIM:617668
HP:0002093	Respiratory insufficiency	1785	DNM2	OMIM:615368
HP:0002093	Respiratory insufficiency	84466	MEGF10	OMIM:614399
HP:0002093	Respiratory insufficiency	1410	CRYAB	OMIM:613869
HP:0002093	Respiratory insufficiency	55636	CHD7	ORPHA:138
HP:0002093	Respiratory insufficiency	9723	SEMA3E	ORPHA:138
HP:0002093	Respiratory insufficiency	3908	LAMA2	ORPHA:258
HP:0002093	Respiratory insufficiency	6440	SFTPC	OMIM:610913
HP:0002093	Respiratory insufficiency	1185	CLCN6	OMIM:619173
HP:0002093	Respiratory insufficiency	90	ACVR1	OMIM:135100
HP:0002093	Respiratory insufficiency	90	ACVR1	ORPHA:337
HP:0002093	Respiratory insufficiency	2273	FHL1	OMIM:300696
HP:0002093	Respiratory insufficiency	2263	FGFR2	ORPHA:87
HP:0002093	Respiratory insufficiency	2263	FGFR2	ORPHA:207
HP:0002093	Respiratory insufficiency	6023	RMRP	ORPHA:175
HP:0002093	Respiratory insufficiency	23321	TRIM2	OMIM:615490
HP:0002093	Respiratory insufficiency	6261	RYR1	OMIM:255320
HP:0002093	Respiratory insufficiency	6261	RYR1	ORPHA:169186
HP:0002093	Respiratory insufficiency	92579	G6PC3	OMIM:612541
HP:0002093	Respiratory insufficiency	6773	STAT2	OMIM:618886
HP:0002093	Respiratory insufficiency	3717	JAK2	ORPHA:729
HP:0002093	Respiratory insufficiency	93627	TBCK	OMIM:616900
HP:0002093	Respiratory insufficiency	93627	TBCK	ORPHA:488632
HP:0002093	Respiratory insufficiency	55109	AGGF1	ORPHA:90308
HP:0002093	Respiratory insufficiency	5290	PIK3CA	ORPHA:90308
HP:0002093	Respiratory insufficiency	1509	CTSD	OMIM:610127
HP:0002093	Respiratory insufficiency	10558	SPTLC1	OMIM:620285
HP:0002093	Respiratory insufficiency	5191	PEX7	OMIM:215100
HP:0002093	Respiratory insufficiency	5191	PEX7	ORPHA:773
HP:0002093	Respiratory insufficiency	3339	HSPG2	ORPHA:1865
HP:0002093	Respiratory insufficiency	3339	HSPG2	OMIM:224410
HP:0002093	Respiratory insufficiency	3339	HSPG2	ORPHA:800
HP:0002093	Respiratory insufficiency	259232	NALCN	ORPHA:562528
HP:0002093	Respiratory insufficiency	259232	NALCN	OMIM:616266
HP:0002093	Respiratory insufficiency	8802	SUCLG1	OMIM:245400
HP:0002093	Respiratory insufficiency	1281	COL3A1	ORPHA:286
HP:0002093	Respiratory insufficiency	54968	TMEM70	OMIM:614052
HP:0002093	Respiratory insufficiency	88	ACTN2	OMIM:618654
HP:0002093	Respiratory insufficiency	7170	TPM3	OMIM:255310
HP:0002093	Respiratory insufficiency	7170	TPM3	OMIM:609284
HP:0002093	Respiratory insufficiency	246243	RNASEH1	OMIM:616479
HP:0002093	Respiratory insufficiency	388962	BOLA3	OMIM:614299
HP:0002093	Respiratory insufficiency	79583	TMEM231	OMIM:614970
HP:0002093	Respiratory insufficiency	1301	COL11A1	ORPHA:2021
HP:0002093	Respiratory insufficiency	1302	COL11A2	ORPHA:2021
HP:0002093	Respiratory insufficiency	3265	HRAS	OMIM:218040
HP:0002093	Respiratory insufficiency	113278	SLC52A3	OMIM:211530
HP:0002093	Respiratory insufficiency	788	SLC25A20	ORPHA:159
HP:0002093	Respiratory insufficiency	9851	KIAA0753	ORPHA:474
HP:0002093	Respiratory insufficiency	26160	IFT172	ORPHA:474
HP:0002093	Respiratory insufficiency	153241	CEP120	ORPHA:474
HP:0002093	Respiratory insufficiency	153241	CEP120	OMIM:616300
HP:0002093	Respiratory insufficiency	51626	DYNC2LI1	ORPHA:474
HP:0002093	Respiratory insufficiency	9742	IFT140	ORPHA:474
HP:0002093	Respiratory insufficiency	57728	WDR19	ORPHA:474
HP:0002093	Respiratory insufficiency	79809	TTC21B	ORPHA:474
HP:0002093	Respiratory insufficiency	3981	LIG4	ORPHA:235
HP:0002093	Respiratory insufficiency	54888	NSUN2	ORPHA:235
HP:0002093	Respiratory insufficiency	9056	SLC7A7	ORPHA:470
HP:0002093	Respiratory insufficiency	9056	SLC7A7	OMIM:222700
HP:0002093	Respiratory insufficiency	4204	MECP2	OMIM:300673
HP:0002093	Respiratory insufficiency	4204	MECP2	ORPHA:209370
HP:0002093	Respiratory insufficiency	1836	SLC26A2	OMIM:600972
HP:0002093	Respiratory insufficiency	1836	SLC26A2	ORPHA:628
HP:0002093	Respiratory insufficiency	1836	SLC26A2	OMIM:256050
HP:0002093	Respiratory insufficiency	2200	FBN1	OMIM:614185
HP:0002093	Respiratory insufficiency	9453	GGPS1	OMIM:619518
HP:0002093	Respiratory insufficiency	9508	ADAMTS3	ORPHA:2136
HP:0002093	Respiratory insufficiency	147372	CCBE1	ORPHA:2136
HP:0002093	Respiratory insufficiency	79633	FAT4	ORPHA:2136
HP:0002093	Respiratory insufficiency	10290	SPEG	OMIM:615959
HP:0002093	Respiratory insufficiency	10290	SPEG	ORPHA:169186
HP:0002093	Respiratory insufficiency	10056	FARSB	OMIM:613658
HP:0002093	Respiratory insufficiency	1493	CTLA4	ORPHA:900
HP:0002093	Respiratory insufficiency	26191	PTPN22	ORPHA:900
HP:0002093	Respiratory insufficiency	3115	HLA-DPB1	ORPHA:900
HP:0002093	Respiratory insufficiency	3115	HLA-DPB1	ORPHA:133
HP:0002093	Respiratory insufficiency	5657	PRTN3	ORPHA:900
HP:0002093	Respiratory insufficiency	3113	HLA-DPA1	ORPHA:900
HP:0002093	Respiratory insufficiency	493856	CISD2	ORPHA:3463
HP:0002093	Respiratory insufficiency	7466	WFS1	ORPHA:3463
HP:0002093	Respiratory insufficiency	7466	WFS1	ORPHA:411590
HP:0002093	Respiratory insufficiency	4089	SMAD4	OMIM:139210
HP:0002093	Respiratory insufficiency	2548	GAA	ORPHA:308552
HP:0002093	Respiratory insufficiency	2548	GAA	OMIM:232300
HP:0002093	Respiratory insufficiency	11231	SEC63	ORPHA:2924
HP:0002093	Respiratory insufficiency	5589	PRKCSH	ORPHA:2924
HP:0002093	Respiratory insufficiency	4041	LRP5	ORPHA:2924
HP:0002093	Respiratory insufficiency	23396	PIP5K1C	OMIM:611369
HP:0002093	Respiratory insufficiency	2316	FLNA	ORPHA:2484
HP:0002093	Respiratory insufficiency	2316	FLNA	OMIM:304120
HP:0002093	Respiratory insufficiency	3662	IRF4	ORPHA:3452
HP:0002093	Respiratory insufficiency	7443	VRK1	OMIM:607596
HP:0002093	Respiratory insufficiency	26154	ABCA12	ORPHA:457
HP:0002093	Respiratory insufficiency	4000	LMNA	ORPHA:157973
HP:0002093	Respiratory insufficiency	2318	FLNC	ORPHA:171445
HP:0002093	Respiratory insufficiency	2318	FLNC	OMIM:609524
HP:0002093	Respiratory insufficiency	197258	FCSK	OMIM:618324
HP:0002093	Respiratory insufficiency	56983	POGLUT1	OMIM:617232
HP:0002093	Respiratory insufficiency	125988	MICOS13	OMIM:618329
HP:0002093	Respiratory insufficiency	6572	SLC18A3	OMIM:617239
HP:0002093	Respiratory insufficiency	6572	SLC18A3	ORPHA:994
HP:0002093	Respiratory insufficiency	7317	UBA1	ORPHA:1145
HP:0002093	Respiratory insufficiency	7317	UBA1	OMIM:301830
HP:0002093	Respiratory insufficiency	4052	LTBP1	ORPHA:90349
HP:0002093	Respiratory insufficiency	30008	EFEMP2	ORPHA:90349
HP:0002093	Respiratory insufficiency	10516	FBLN5	ORPHA:90349
HP:0002093	Respiratory insufficiency	2744	GLS	OMIM:618328
HP:0002093	Respiratory insufficiency	81846	SBF2	ORPHA:99956
HP:0002093	Respiratory insufficiency	79645	CLXN	OMIM:620642
HP:0002093	Respiratory insufficiency	2260	FGFR1	ORPHA:2117
HP:0002093	Respiratory insufficiency	10262	SF3B4	ORPHA:245
HP:0002093	Respiratory insufficiency	4615	MYD88	ORPHA:33226
HP:0002093	Respiratory insufficiency	27247	NFU1	OMIM:605711
HP:0002093	Respiratory insufficiency	56652	TWNK	OMIM:607459
HP:0002093	Respiratory insufficiency	56652	TWNK	ORPHA:254892
HP:0002093	Respiratory insufficiency	5428	POLG	OMIM:607459
HP:0002093	Respiratory insufficiency	5428	POLG	ORPHA:254892
HP:0002093	Respiratory insufficiency	345643	MCIDAS	OMIM:618695
HP:0002093	Respiratory insufficiency	6576	SLC25A1	OMIM:615182
HP:0002093	Respiratory insufficiency	10568	SLC34A2	ORPHA:60025
HP:0002093	Respiratory insufficiency	51117	COQ4	OMIM:616276
HP:0002093	Respiratory insufficiency	57017	COQ9	OMIM:614654
HP:0002093	Respiratory insufficiency	10801	SEPTIN9	ORPHA:2901
HP:0002093	Respiratory insufficiency	5813	PURA	OMIM:616158
HP:0002093	Respiratory insufficiency	115948	ODAD3	OMIM:616037
HP:0002093	Respiratory insufficiency	58497	PRUNE1	ORPHA:544469
HP:0002093	Respiratory insufficiency	5081	PAX7	OMIM:618578
HP:0002093	Respiratory insufficiency	826	CAPNS1	OMIM:620777
HP:0002093	Respiratory insufficiency	79628	SH3TC2	ORPHA:99949
HP:0002093	Respiratory insufficiency	55670	PEX26	ORPHA:912
HP:0002093	Respiratory insufficiency	5824	PEX19	ORPHA:912
HP:0002093	Respiratory insufficiency	5828	PEX2	ORPHA:912
HP:0002093	Respiratory insufficiency	8504	PEX3	ORPHA:912
HP:0002093	Respiratory insufficiency	8799	PEX11B	ORPHA:912
HP:0002093	Respiratory insufficiency	9409	PEX16	ORPHA:912
HP:0002093	Respiratory insufficiency	5190	PEX6	ORPHA:912
HP:0002093	Respiratory insufficiency	5830	PEX5	ORPHA:912
HP:0002093	Respiratory insufficiency	5189	PEX1	ORPHA:912
HP:0002093	Respiratory insufficiency	5193	PEX12	ORPHA:912
HP:0002093	Respiratory insufficiency	5194	PEX13	ORPHA:912
HP:0002093	Respiratory insufficiency	5195	PEX14	ORPHA:912
HP:0002093	Respiratory insufficiency	5192	PEX10	ORPHA:912
HP:0002093	Respiratory insufficiency	389827	MYMK	OMIM:254940
HP:0002093	Respiratory insufficiency	59341	TRPV4	OMIM:181405
HP:0002093	Respiratory insufficiency	59341	TRPV4	OMIM:156530
HP:0002093	Respiratory insufficiency	84181	CHD6	ORPHA:2108
HP:0002093	Respiratory insufficiency	2737	GLI3	ORPHA:672
HP:0002093	Respiratory insufficiency	274	BIN1	ORPHA:169186
HP:0002093	Respiratory insufficiency	7273	TTN	ORPHA:169186
HP:0002093	Respiratory insufficiency	291	SLC25A4	ORPHA:254892
HP:0002093	Respiratory insufficiency	11232	POLG2	ORPHA:254892
HP:0002093	Respiratory insufficiency	50484	RRM2B	ORPHA:254892
HP:0002093	Respiratory insufficiency	57190	SELENON	ORPHA:97244
HP:0002093	Respiratory insufficiency	91949	COG7	OMIM:608779
HP:0002093	Respiratory insufficiency	1291	COL6A1	OMIM:254090
HP:0002093	Respiratory insufficiency	5351	PLOD1	OMIM:225400
HP:0002093	Respiratory insufficiency	2879	GPX4	ORPHA:93317
HP:0002093	Respiratory insufficiency	7167	TPI1	OMIM:615512
HP:0002093	Respiratory insufficiency	100151683	RNU4ATAC	OMIM:210710
HP:0002093	Respiratory insufficiency	1305	COL13A1	OMIM:616720
HP:0002093	Respiratory insufficiency	1798	DPAGT1	OMIM:608093
HP:0002093	Respiratory insufficiency	203547	VMA21	OMIM:310440
HP:0002093	Respiratory insufficiency	10102	TSFM	OMIM:610505
HP:0002093	Respiratory insufficiency	4173	MCM4	OMIM:609981
HP:0002093	Respiratory insufficiency	1908	EDN3	ORPHA:661
HP:0002093	Respiratory insufficiency	2668	GDNF	ORPHA:661
HP:0002093	Respiratory insufficiency	627	BDNF	ORPHA:661
HP:0002093	Respiratory insufficiency	10660	LBX1	ORPHA:661
HP:0002093	Respiratory insufficiency	283446	MYO1H	ORPHA:661
HP:0002093	Respiratory insufficiency	8929	PHOX2B	ORPHA:661
HP:0002093	Respiratory insufficiency	7707	ZNF148	OMIM:617260
HP:0002093	Respiratory insufficiency	3106	HLA-B	ORPHA:29207
HP:0002093	Respiratory insufficiency	26275	HIBCH	ORPHA:88639
HP:0002093	Respiratory insufficiency	23395	LARS2	OMIM:617021
HP:0002093	Respiratory insufficiency	23114	NFASC	OMIM:618356
HP:0002093	Respiratory insufficiency	92667	MGME1	OMIM:615084
HP:0002093	Respiratory insufficiency	63895	PIEZO2	OMIM:617146
HP:0002093	Respiratory insufficiency	5660	PSAP	ORPHA:139406
HP:0002093	Respiratory insufficiency	5660	PSAP	OMIM:611722
HP:0002093	Respiratory insufficiency	91869	RFT1	OMIM:612015
HP:0002093	Respiratory insufficiency	51010	EXOSC3	OMIM:614678
HP:0002093	Respiratory insufficiency	1959	EGR2	OMIM:605253
HP:0002093	Respiratory insufficiency	3930	LBR	ORPHA:779
HP:0002093	Respiratory insufficiency	10073	SNUPN	OMIM:620793
HP:0002093	Respiratory insufficiency	4952	OCRL	ORPHA:534
HP:0002093	Respiratory insufficiency	79147	FKRP	ORPHA:370968
HP:0002093	Respiratory insufficiency	79147	FKRP	OMIM:613153
HP:0002093	Respiratory insufficiency	29954	POMT2	ORPHA:370968
HP:0002093	Respiratory insufficiency	29954	POMT2	OMIM:613156
HP:0002093	Respiratory insufficiency	9215	LARGE1	ORPHA:370968
HP:0002093	Respiratory insufficiency	10585	POMT1	ORPHA:370968
HP:0002093	Respiratory insufficiency	427	ASAH1	ORPHA:333
HP:0002093	Respiratory insufficiency	427	ASAH1	OMIM:228000
HP:0002093	Respiratory insufficiency	7084	TK2	ORPHA:254875
HP:0002093	Respiratory insufficiency	4704	NDUFA9	OMIM:618247
HP:0002093	Respiratory insufficiency	4705	NDUFA10	OMIM:618243
HP:0002093	Respiratory insufficiency	11274	USP18	OMIM:617397
HP:0002093	Respiratory insufficiency	134701	RIPPLY2	ORPHA:2311
HP:0002093	Respiratory insufficiency	10683	DLL3	ORPHA:2311
HP:0002093	Respiratory insufficiency	3955	LFNG	ORPHA:2311
HP:0002093	Respiratory insufficiency	84667	HES7	ORPHA:2311
HP:0002093	Respiratory insufficiency	145873	MESP2	ORPHA:2311
HP:0002093	Respiratory insufficiency	1277	COL1A1	OMIM:166210
HP:0002093	Respiratory insufficiency	1277	COL1A1	ORPHA:1310
HP:0002093	Respiratory insufficiency	1278	COL1A2	OMIM:166210
HP:0002093	Respiratory insufficiency	2077	ERF	ORPHA:207
HP:0002093	Respiratory insufficiency	6606	SMN1	OMIM:253300
HP:0002093	Respiratory insufficiency	55750	AGK	OMIM:212350
HP:0002093	Respiratory insufficiency	2717	GLA	ORPHA:324
HP:0002093	Respiratory insufficiency	6329	SCN4A	ORPHA:682
HP:0002093	Respiratory insufficiency	6329	SCN4A	OMIM:620351
HP:0002093	Respiratory insufficiency	63931	MRPS14	OMIM:618378
HP:0002093	Respiratory insufficiency	3977	LIFR	OMIM:601559
HP:0002093	Respiratory insufficiency	5250	SLC25A3	OMIM:610773
HP:0002093	Respiratory insufficiency	9531	BAG3	OMIM:612954
HP:0002093	Respiratory insufficiency	27130	INVS	OMIM:602088
HP:0002093	Respiratory insufficiency	1756	DMD	ORPHA:98896
HP:0002093	Respiratory insufficiency	8425	LTBP4	ORPHA:98896
HP:0002093	Respiratory insufficiency	59336	PRDM13	OMIM:619909
HP:0002093	Respiratory insufficiency	55605	KIF21A	ORPHA:994
HP:0002093	Respiratory insufficiency	4927	NUP88	ORPHA:994
HP:0002093	Respiratory insufficiency	7846	TUBA1A	ORPHA:994
HP:0002093	Respiratory insufficiency	4654	MYOD1	ORPHA:994
HP:0002093	Respiratory insufficiency	4654	MYOD1	OMIM:618975
HP:0002093	Respiratory insufficiency	54551	MAGEL2	ORPHA:994
HP:0002093	Respiratory insufficiency	285489	DOK7	ORPHA:994
HP:0002093	Respiratory insufficiency	11340	EXOSC8	OMIM:616081
HP:0002093	Respiratory insufficiency	11212	PLPBP	OMIM:617290
HP:0002093	Respiratory insufficiency	11019	LIAS	OMIM:614462
HP:0002093	Respiratory insufficiency	4567	MT-TL1	ORPHA:324525
HP:0002093	Respiratory insufficiency	29957	SLC25A24	OMIM:612289
HP:0002093	Respiratory insufficiency	3032	HADHB	ORPHA:746
HP:0002093	Respiratory insufficiency	3030	HADHA	ORPHA:746
HP:0002093	Respiratory insufficiency	3030	HADHA	OMIM:609015
HP:0002093	Respiratory insufficiency	2218	FKTN	OMIM:253800
HP:0002093	Respiratory insufficiency	5352	PLOD2	ORPHA:2771
HP:0002093	Respiratory insufficiency	60681	FKBP10	ORPHA:2771
HP:0002093	Respiratory insufficiency	29926	GMPPA	ORPHA:869
HP:0002093	Respiratory insufficiency	60684	TRAPPC11	ORPHA:869
HP:0002093	Respiratory insufficiency	8086	AAAS	ORPHA:869
HP:0002093	Respiratory insufficiency	246329	STAC3	ORPHA:168572
HP:0002093	Respiratory insufficiency	6050	RNH1	OMIM:620461
HP:0002093	Respiratory insufficiency	3181	HNRNPA2B1	OMIM:620460
HP:0002093	Respiratory insufficiency	84172	POLR1B	ORPHA:861
HP:0002093	Respiratory insufficiency	9533	POLR1C	ORPHA:861
HP:0002093	Respiratory insufficiency	51082	POLR1D	ORPHA:861
HP:0002093	Respiratory insufficiency	6949	TCOF1	ORPHA:861
HP:0002093	Respiratory insufficiency	3636	INPPL1	OMIM:258480
HP:0002093	Respiratory insufficiency	3636	INPPL1	ORPHA:2746
HP:0002093	Respiratory insufficiency	374354	NHLRC2	OMIM:618278
HP:0002093	Respiratory insufficiency	9373	PLAA	ORPHA:521426
HP:0002093	Respiratory insufficiency	9373	PLAA	OMIM:617527
HP:0002093	Respiratory insufficiency	8292	COLQ	ORPHA:98915
HP:0002093	Respiratory insufficiency	8292	COLQ	OMIM:603034
HP:0002093	Respiratory insufficiency	3913	LAMB2	ORPHA:98915
HP:0002093	Respiratory insufficiency	4604	MYBPC1	OMIM:614915
HP:0002093	Respiratory insufficiency	1376	CPT2	OMIM:608836
HP:0002093	Respiratory insufficiency	5264	PHYH	ORPHA:773
HP:0002093	Respiratory insufficiency	126792	B3GALT6	ORPHA:536467
HP:0002093	Respiratory insufficiency	126792	B3GALT6	OMIM:615349
HP:0002093	Respiratory insufficiency	6904	TBCD	OMIM:617193
HP:0002093	Respiratory insufficiency	10577	NPC2	OMIM:607625
HP:0002093	Respiratory insufficiency	210	ALAD	ORPHA:100924
HP:0002093	Respiratory insufficiency	4938	OAS1	OMIM:618042
HP:0002093	Respiratory insufficiency	440	ASNS	OMIM:615574
HP:0002093	Respiratory insufficiency	200205	IBA57	OMIM:615330
HP:0002093	Respiratory insufficiency	5557	PRIM1	OMIM:620005
HP:0002093	Respiratory insufficiency	23529	CLCF1	ORPHA:1545
HP:0002093	Respiratory insufficiency	9244	CRLF1	ORPHA:1545
HP:0002093	Respiratory insufficiency	5376	PMP22	ORPHA:640
HP:0002093	Respiratory insufficiency	54936	ADPRS	OMIM:618170
HP:0002093	Respiratory insufficiency	56922	MCCC1	ORPHA:6
HP:0002093	Respiratory insufficiency	64087	MCCC2	ORPHA:6
HP:0002093	Respiratory insufficiency	1439	CSF2RB	OMIM:614370
HP:0002093	Respiratory insufficiency	80704	SLC19A3	ORPHA:263410
HP:0002093	Respiratory insufficiency	5087	PBX1	OMIM:617641
HP:0002093	Respiratory insufficiency	51763	INPP5K	OMIM:617404
HP:0002093	Respiratory insufficiency	1140	CHRNB1	OMIM:616314
HP:0002093	Respiratory insufficiency	10535	RNASEH2A	OMIM:610333
HP:0002093	Respiratory insufficiency	1371	CPOX	ORPHA:79273
HP:0002093	Respiratory insufficiency	23224	SYNE2	OMIM:612999
HP:0002093	Respiratory insufficiency	54938	SARS2	OMIM:613845
HP:0002093	Respiratory insufficiency	3145	HMBS	ORPHA:79276
HP:0002093	Respiratory insufficiency	3156	HMGCR	OMIM:620375
HP:0002093	Respiratory insufficiency	1639	DCTN1	OMIM:168605
HP:0002093	Respiratory insufficiency	6786	STIM1	OMIM:160565
HP:0002093	Respiratory insufficiency	90952	ESAM	OMIM:620371
HP:0002093	Respiratory insufficiency	168667	BMPER	OMIM:608022
HP:0002093	Respiratory insufficiency	374407	DNAJB13	OMIM:617091
HP:0002093	Respiratory insufficiency	374407	DNAJB13	ORPHA:244
HP:0002093	Respiratory insufficiency	139212	DNAAF6	OMIM:300991
HP:0002093	Respiratory insufficiency	139212	DNAAF6	ORPHA:244
HP:0002093	Respiratory insufficiency	85016	CFAP300	OMIM:618063
HP:0002093	Respiratory insufficiency	85016	CFAP300	ORPHA:244
HP:0002093	Respiratory insufficiency	2294	FOXF1	OMIM:265380
HP:0002093	Respiratory insufficiency	5076	PAX2	ORPHA:97362
HP:0002093	Respiratory insufficiency	83538	ODAD4	OMIM:617092
HP:0002093	Respiratory insufficiency	83538	ODAD4	ORPHA:244
HP:0002093	Respiratory insufficiency	199857	ALG14	OMIM:619036
HP:0002093	Respiratory insufficiency	10059	DNM1L	OMIM:614388
HP:0002093	Respiratory insufficiency	55627	SMPD4	OMIM:618622
HP:0002093	Respiratory insufficiency	23417	MLYCD	OMIM:248360
HP:0002093	Respiratory insufficiency	8854	ALDH1A2	OMIM:620025
HP:0002093	Respiratory insufficiency	345895	RSPH4A	OMIM:612649
HP:0002093	Respiratory insufficiency	345895	RSPH4A	ORPHA:244
HP:0002093	Respiratory insufficiency	501	ALDH7A1	OMIM:266100
HP:0002093	Respiratory insufficiency	501	ALDH7A1	ORPHA:3006
HP:0002093	Respiratory insufficiency	54768	HYDIN	OMIM:608647
HP:0002093	Respiratory insufficiency	54768	HYDIN	ORPHA:244
HP:0002093	Respiratory insufficiency	89765	RSPH1	OMIM:615481
HP:0002093	Respiratory insufficiency	89765	RSPH1	ORPHA:244
HP:0002093	Respiratory insufficiency	161582	DNAAF4	OMIM:615482
HP:0002093	Respiratory insufficiency	161582	DNAAF4	ORPHA:244
HP:0002093	Respiratory insufficiency	6729	SRP54	OMIM:260400
HP:0002093	Respiratory insufficiency	51119	SBDS	OMIM:260400
HP:0002093	Respiratory insufficiency	134218	DNAJC21	OMIM:260400
HP:0002093	Respiratory insufficiency	89910	UBE3B	OMIM:244450
HP:0002093	Respiratory insufficiency	6616	SNAP25	OMIM:616330
HP:0002093	Respiratory insufficiency	55790	CSGALNACT1	OMIM:618870
HP:0002093	Respiratory insufficiency	221421	RSPH9	OMIM:612650
HP:0002093	Respiratory insufficiency	221421	RSPH9	ORPHA:244
HP:0002093	Respiratory insufficiency	9200	HACD1	OMIM:619967
HP:0002093	Respiratory insufficiency	1767	DNAH5	OMIM:608644
HP:0002093	Respiratory insufficiency	1767	DNAH5	ORPHA:244
HP:0002093	Respiratory insufficiency	4868	NPHS1	OMIM:256300
HP:0002093	Respiratory insufficiency	6439	SFTPB	OMIM:265120
HP:0002093	Respiratory insufficiency	6439	SFTPB	ORPHA:217563
HP:0002093	Respiratory insufficiency	1146	CHRNG	OMIM:265000
HP:0002093	Respiratory insufficiency	1146	CHRNG	ORPHA:2990
HP:0002093	Respiratory insufficiency	84987	COX14	OMIM:619053
HP:0002093	Respiratory insufficiency	55906	ZC4H2	OMIM:314580
HP:0002093	Respiratory insufficiency	10999	SLC27A4	ORPHA:88621
HP:0002093	Respiratory insufficiency	165	AEBP1	OMIM:618000
HP:0002093	Respiratory insufficiency	55037	PTCD3	OMIM:619057
HP:0002093	Respiratory insufficiency	7994	KAT6A	ORPHA:457193
HP:0002093	Respiratory insufficiency	7994	KAT6A	OMIM:616268
HP:0002093	Respiratory insufficiency	51008	ASCC1	OMIM:616867
HP:0002093	Respiratory insufficiency	64131	XYLT1	OMIM:615777
HP:0002093	Respiratory insufficiency	2917	GRM7	OMIM:618922
HP:0002093	Respiratory insufficiency	9325	TRIP4	OMIM:616866
HP:0002093	Respiratory insufficiency	9820	CUL7	OMIM:273750
HP:0002093	Respiratory insufficiency	7490	WT1	OMIM:194080
HP:0002093	Respiratory insufficiency	9361	LONP1	ORPHA:79243
HP:0002093	Respiratory insufficiency	5160	PDHA1	ORPHA:79243
HP:0002093	Respiratory insufficiency	21	ABCA3	OMIM:610921
HP:0002093	Respiratory insufficiency	21	ABCA3	ORPHA:217563
HP:0002093	Respiratory insufficiency	7080	NKX2-1	ORPHA:209905
HP:0002093	Respiratory insufficiency	7080	NKX2-1	OMIM:610978
HP:0002093	Respiratory insufficiency	1339	COX6A2	OMIM:619062
HP:0002093	Respiratory insufficiency	860	RUNX2	OMIM:119600
HP:0002093	Respiratory insufficiency	1760	DMPK	ORPHA:589821
HP:0002093	Respiratory insufficiency	4905	NSF	OMIM:619340
HP:0002093	Respiratory insufficiency	132158	GLYCTK	OMIM:220120
HP:0002093	Respiratory insufficiency	5167	ENPP1	OMIM:208000
HP:0002093	Respiratory insufficiency	5332	PLCB4	OMIM:620458
HP:0002093	Respiratory insufficiency	2783	GNB2	OMIM:619503
HP:0002093	Respiratory insufficiency	2752	GLUL	OMIM:610015
HP:0002093	Respiratory insufficiency	55036	CCDC40	OMIM:613808
HP:0002093	Respiratory insufficiency	55036	CCDC40	ORPHA:244
HP:0002093	Respiratory insufficiency	339829	CCDC39	OMIM:613807
HP:0002093	Respiratory insufficiency	339829	CCDC39	ORPHA:244
HP:0002093	Respiratory insufficiency	83861	RSPH3	OMIM:616481
HP:0002093	Respiratory insufficiency	83861	RSPH3	ORPHA:244
HP:0002093	Respiratory insufficiency	6628	SNRPB	OMIM:117650
HP:0002093	Respiratory insufficiency	6628	SNRPB	ORPHA:1393
HP:0002093	Respiratory insufficiency	57061	HYMAI	ORPHA:96191
HP:0002093	Respiratory insufficiency	5325	PLAGL1	ORPHA:96191
HP:0002093	Respiratory insufficiency	4576	MT-TT	ORPHA:254857
HP:0002093	Respiratory insufficiency	152110	NEK10	OMIM:618781
HP:0002093	Respiratory insufficiency	152110	NEK10	ORPHA:244
HP:0002093	Respiratory insufficiency	1861	TOR1A	OMIM:618947
HP:0002093	Respiratory insufficiency	64446	DNAI2	OMIM:612444
HP:0002093	Respiratory insufficiency	64446	DNAI2	ORPHA:244
HP:0002093	Respiratory insufficiency	8021	NUP214	OMIM:618426
HP:0002093	Respiratory insufficiency	3675	ITGA3	OMIM:614748
HP:0002093	Respiratory insufficiency	8405	SPOP	OMIM:618828
HP:0002093	Respiratory insufficiency	5293	PIK3CD	ORPHA:221139
HP:0002093	Respiratory insufficiency	90417	KNSTRN	ORPHA:221139
HP:0002093	Respiratory insufficiency	415	ARSL	ORPHA:79345
HP:0002093	Respiratory insufficiency	145258	GSC	OMIM:602471
HP:0002093	Respiratory insufficiency	8818	DPM2	OMIM:615042
HP:0002093	Respiratory insufficiency	8567	MADD	OMIM:619004
HP:0002093	Respiratory insufficiency	8567	MADD	OMIM:619005
HP:0002093	Respiratory insufficiency	253959	RALGAPA1	OMIM:618797
HP:0002093	Respiratory insufficiency	8481	OFD1	OMIM:300209
HP:0002093	Respiratory insufficiency	8481	OFD1	ORPHA:244
HP:0002093	Respiratory insufficiency	5205	ATP8B1	ORPHA:69665
HP:0002093	Respiratory insufficiency	8647	ABCB11	ORPHA:69665
HP:0002093	Respiratory insufficiency	5244	ABCB4	ORPHA:69665
HP:0002093	Respiratory insufficiency	9971	NR1H4	ORPHA:69665
HP:0002093	Respiratory insufficiency	1654	DDX3X	ORPHA:3338
HP:0002093	Respiratory insufficiency	54919	DNAAF5	OMIM:614874
HP:0002093	Respiratory insufficiency	54919	DNAAF5	ORPHA:244
HP:0002093	Respiratory insufficiency	51364	ZMYND10	OMIM:615444
HP:0002093	Respiratory insufficiency	51364	ZMYND10	ORPHA:244
HP:0002093	Respiratory insufficiency	124583	CANT1	OMIM:251450
HP:0002093	Respiratory insufficiency	92749	DRC1	OMIM:615294
HP:0002093	Respiratory insufficiency	92749	DRC1	ORPHA:244
HP:0002093	Respiratory insufficiency	5331	PLCB3	OMIM:618961
HP:0002093	Respiratory insufficiency	84231	TRAF7	OMIM:618164
HP:0002093	Respiratory insufficiency	5339	PLEC	OMIM:226670
HP:0002093	Respiratory insufficiency	10463	SLC30A9	OMIM:617595
HP:0002093	Respiratory insufficiency	55130	ODAD2	OMIM:615451
HP:0002093	Respiratory insufficiency	55130	ODAD2	ORPHA:244
HP:0002093	Respiratory insufficiency	4621	MYH3	ORPHA:2990
HP:0002093	Respiratory insufficiency	25981	DNAH1	ORPHA:244
HP:0002093	Respiratory insufficiency	352909	DNAAF3	ORPHA:244
HP:0002093	Respiratory insufficiency	27148	STK36	ORPHA:244
HP:0002093	Respiratory insufficiency	51314	NME8	ORPHA:244
HP:0002093	Respiratory insufficiency	54970	TTC12	ORPHA:244
HP:0002093	Respiratory insufficiency	2302	FOXJ1	ORPHA:244
HP:0002093	Respiratory insufficiency	2302	FOXJ1	OMIM:618699
HP:0002093	Respiratory insufficiency	85478	CCDC65	ORPHA:244
HP:0002093	Respiratory insufficiency	85478	CCDC65	OMIM:615504
HP:0002093	Respiratory insufficiency	8382	NME5	ORPHA:244
HP:0002093	Respiratory insufficiency	6674	SPAG1	ORPHA:244
HP:0002093	Respiratory insufficiency	6674	SPAG1	OMIM:615505
HP:0002093	Respiratory insufficiency	83544	DNAL1	ORPHA:244
HP:0002093	Respiratory insufficiency	200373	CFAP221	ORPHA:244
HP:0002093	Respiratory insufficiency	55172	DNAAF2	ORPHA:244
HP:0002093	Respiratory insufficiency	2622	GAS8	ORPHA:244
HP:0002093	Respiratory insufficiency	23639	DNAAF11	ORPHA:244
HP:0002093	Respiratory insufficiency	27019	DNAI1	ORPHA:244
HP:0002093	Respiratory insufficiency	6103	RPGR	ORPHA:244
HP:0002093	Respiratory insufficiency	85452	CFAP74	ORPHA:244
HP:0002093	Respiratory insufficiency	93233	ODAD1	ORPHA:244
HP:0002093	Respiratory insufficiency	56683	CFAP298	ORPHA:244
HP:0002093	Respiratory insufficiency	56683	CFAP298	OMIM:615500
HP:0002093	Respiratory insufficiency	79925	SPEF2	ORPHA:244
HP:0002093	Respiratory insufficiency	10309	CCNO	ORPHA:244
HP:0002093	Respiratory insufficiency	115399	LRRC56	ORPHA:244
HP:0002093	Respiratory insufficiency	123872	DNAAF1	ORPHA:244
HP:0002093	Respiratory insufficiency	8701	DNAH11	ORPHA:244
HP:0002093	Respiratory insufficiency	1770	DNAH9	ORPHA:244
HP:0002093	Respiratory insufficiency	246176	GAS2L2	ORPHA:244
HP:0002093	Respiratory insufficiency	171023	ASXL1	OMIM:605039
HP:0002093	Respiratory insufficiency	667	DST	OMIM:614653
HP:0002093	Respiratory insufficiency	2719	GPC3	OMIM:312870
HP:0002093	Respiratory insufficiency	2239	GPC4	OMIM:312870
HP:0002093	Respiratory insufficiency	29969	MDFIC	OMIM:620014
HP:0002093	Respiratory insufficiency	4359	MPZ	OMIM:618184
HP:0002093	Respiratory insufficiency	2673	GFPT1	OMIM:608931
HP:0002093	Respiratory insufficiency	4574	MT-TS1	OMIM:220110
HP:0002093	Respiratory insufficiency	4574	MT-TS1	ORPHA:663
HP:0002093	Respiratory insufficiency	4570	MT-TN	OMIM:220110
HP:0002093	Respiratory insufficiency	4570	MT-TN	ORPHA:663
HP:0002093	Respiratory insufficiency	6834	SURF1	OMIM:220110
HP:0002093	Respiratory insufficiency	9782	MATR3	OMIM:606070
HP:0002093	Respiratory insufficiency	9782	MATR3	ORPHA:600
HP:0002093	Respiratory insufficiency	2066	ERBB4	OMIM:615515
HP:0002093	Respiratory insufficiency	84334	COA8	ORPHA:436271
HP:0002093	Respiratory insufficiency	1134	CHRNA1	OMIM:608930
HP:0002093	Respiratory insufficiency	64419	MTMR14	ORPHA:169189
HP:0002093	Respiratory insufficiency	4618	MYF6	ORPHA:169189
HP:0002093	Respiratory insufficiency	4568	MT-TL2	ORPHA:663
HP:0002093	Respiratory insufficiency	22880	MORC2	ORPHA:466768
HP:0002093	Respiratory insufficiency	84197	POMK	OMIM:615249
HP:0002093	Respiratory insufficiency	1272	CNTN1	OMIM:612540
HP:0002093	Respiratory insufficiency	84876	ORAI1	OMIM:612782
HP:0002093	Respiratory insufficiency	4358	MPV17	OMIM:256810
HP:0002093	Respiratory insufficiency	29967	LRP12	OMIM:164310
HP:0002093	Respiratory insufficiency	29967	LRP12	ORPHA:98897
HP:0002093	Respiratory insufficiency	80208	SPG11	OMIM:602099
HP:0002093	Respiratory insufficiency	4151	MB	OMIM:620286
HP:0002093	Respiratory insufficiency	779	CACNA1S	ORPHA:681
HP:0002093	Respiratory insufficiency	10008	KCNE3	ORPHA:681
HP:0002093	Respiratory insufficiency	4633	MYL2	ORPHA:2020
HP:0002093	Respiratory insufficiency	3679	ITGA7	ORPHA:2020
HP:0002093	Respiratory insufficiency	51776	MAP3K20	ORPHA:2020
HP:0002093	Respiratory insufficiency	127833	SYT2	OMIM:619461
HP:0002093	Respiratory insufficiency	57449	PLEKHG5	OMIM:611067
HP:0002093	Respiratory insufficiency	4632	MYL1	OMIM:618414
HP:0002093	Respiratory insufficiency	353116	RILPL1	ORPHA:98897
HP:0002093	Respiratory insufficiency	10755	GIPC1	ORPHA:98897
HP:0002093	Respiratory insufficiency	100996717	NOTCH2NLC	ORPHA:98897
HP:0002093	Respiratory insufficiency	9997	SCO2	OMIM:604377
HP:0002093	Respiratory insufficiency	1103	CHAT	OMIM:254210
HP:0002093	Respiratory insufficiency	1674	DES	OMIM:601419
HP:0002093	Respiratory insufficiency	1674	DES	ORPHA:98909
HP:0002093	Respiratory insufficiency	23287	AGTPBP1	OMIM:618276
HP:0002093	Respiratory insufficiency	51244	CCDC174	OMIM:616816
HP:0002093	Respiratory insufficiency	2733	GLE1	OMIM:611890
HP:0002093	Respiratory insufficiency	23435	TARDBP	OMIM:612069
HP:0002093	Respiratory insufficiency	84665	MYPN	ORPHA:171439
HP:0002093	Respiratory insufficiency	390594	KBTBD13	ORPHA:171439
HP:0002093	Respiratory insufficiency	55681	SCYL2	ORPHA:1143
HP:0002093	Respiratory insufficiency	84570	COL25A1	ORPHA:1143
HP:0002093	Respiratory insufficiency	57222	ERGIC1	ORPHA:1143
HP:0002093	Respiratory insufficiency	2010	EMD	ORPHA:98863
HP:0002093	Respiratory insufficiency	23299	BICD2	OMIM:618291
HP:0002093	Respiratory insufficiency	23676	SMPX	OMIM:301075
HP:0002093	Respiratory insufficiency	9927	MFN2	OMIM:617087
HP:0002093	Respiratory insufficiency	8803	SUCLA2	OMIM:612073
HP:0002093	Respiratory insufficiency	51067	YARS2	OMIM:613561
HP:0002093	Respiratory insufficiency	8291	DYSF	ORPHA:45448
HP:0002093	Respiratory insufficiency	23534	TNPO3	OMIM:608423
HP:0002093	Respiratory insufficiency	54808	DYM	ORPHA:239
HP:0002093	Respiratory insufficiency	79188	TMEM43	ORPHA:98853
HP:0002093	Respiratory insufficiency	23345	SYNE1	ORPHA:98853
HP:0002093	Respiratory insufficiency	1832	DSP	ORPHA:158687
HP:0002093	Respiratory insufficiency	3728	JUP	ORPHA:158687
HP:0002093	Respiratory insufficiency	28981	IFT81	OMIM:617895
HP:0002093	Respiratory insufficiency	79848	CSPP1	OMIM:615636
HP:0002093	Respiratory insufficiency	81570	CLPB	ORPHA:445038
HP:0002093	Respiratory insufficiency	1303	COL12A1	ORPHA:75840
HP:0002093	Respiratory insufficiency	1292	COL6A2	ORPHA:75840
HP:0002093	Respiratory insufficiency	1292	COL6A2	OMIM:620727
HP:0002093	Respiratory insufficiency	1293	COL6A3	ORPHA:75840
HP:0002093	Respiratory insufficiency	3909	LAMA3	ORPHA:79404
HP:0002093	Respiratory insufficiency	3918	LAMC2	ORPHA:79404
HP:0002093	Respiratory insufficiency	3914	LAMB3	ORPHA:79404
HP:0002093	Respiratory insufficiency	26580	BSCL2	ORPHA:363400
HP:0002093	Respiratory insufficiency	283989	TSEN54	OMIM:225753
HP:0002093	Respiratory insufficiency	388015	RTL1	ORPHA:254528
HP:0002093	Respiratory insufficiency	388015	RTL1	ORPHA:96334
HP:0002093	Respiratory insufficiency	8788	DLK1	ORPHA:254528
HP:0002093	Respiratory insufficiency	8788	DLK1	ORPHA:96334
HP:0002093	Respiratory insufficiency	55384	MEG3	ORPHA:254528
HP:0002093	Respiratory insufficiency	55384	MEG3	ORPHA:96334
HP:0002093	Respiratory insufficiency	6536	SLC6A9	OMIM:617301
HP:0002093	Respiratory insufficiency	131377	KLHL40	ORPHA:171430
HP:0002093	Respiratory insufficiency	131377	KLHL40	OMIM:615348
HP:0002093	Respiratory insufficiency	101060691	NUTM2B-AS1	OMIM:618637
HP:0002093	Respiratory insufficiency	1841	DTYMK	OMIM:619847
HP:0002093	Respiratory insufficiency	54931	TRMT10C	OMIM:616974
HP:0002093	Respiratory insufficiency	341640	FREM2	OMIM:617666
HP:0002093	Respiratory insufficiency	3508	IGHMBP2	OMIM:604320
HP:0002093	Respiratory insufficiency	275	AMT	OMIM:620398
HP:0002093	Respiratory insufficiency	3735	KARS1	ORPHA:3240
HP:0002093	Respiratory insufficiency	23511	NUP188	OMIM:618804
HP:0002093	Respiratory insufficiency	11080	DNAJB4	OMIM:620326
HP:0002093	Respiratory insufficiency	91137	SLC25A46	OMIM:616505
HP:0002093	Respiratory insufficiency	91137	SLC25A46	ORPHA:2254
HP:0002093	Respiratory insufficiency	400569	MED11	OMIM:620327
HP:0002093	Respiratory insufficiency	9570	GOSR2	OMIM:620166
HP:0002093	Respiratory insufficiency	81620	CDT1	ORPHA:2554
HP:0002093	Respiratory insufficiency	5000	ORC4	ORPHA:2554
HP:0002093	Respiratory insufficiency	23594	ORC6	ORPHA:2554
HP:0002093	Respiratory insufficiency	8318	CDC45	ORPHA:2554
HP:0002093	Respiratory insufficiency	990	CDC6	ORPHA:2554
HP:0002093	Respiratory insufficiency	4998	ORC1	ORPHA:2554
HP:0002093	Respiratory insufficiency	51053	GMNN	ORPHA:2554
HP:0002093	Respiratory insufficiency	1349	COX7B	ORPHA:2556
HP:0002093	Respiratory insufficiency	3052	HCCS	ORPHA:2556
HP:0002093	Respiratory insufficiency	4547	MTTP	ORPHA:14
HP:0002093	Respiratory insufficiency	5354	PLP1	ORPHA:280210
HP:0002093	Respiratory insufficiency	191	AHCY	ORPHA:88618
HP:0002093	Respiratory insufficiency	5277	PIGA	OMIM:300868
HP:0002093	Respiratory insufficiency	4714	NDUFB8	OMIM:618252
HP:0002093	Respiratory insufficiency	84896	ATAD1	OMIM:618011
HP:0002093	Respiratory insufficiency	4548	MTR	OMIM:250940
HP:0002093	Respiratory insufficiency	3055	HCK	OMIM:620296
HP:0002093	Respiratory insufficiency	90624	LYRM7	OMIM:615838
HP:0002093	Respiratory insufficiency	81031	SLC2A10	ORPHA:3342
HP:0002093	Respiratory insufficiency	10128	LRPPRC	ORPHA:70472
HP:0002093	Respiratory insufficiency	56052	ALG1	ORPHA:79327
HP:0002093	Respiratory insufficiency	128240	NAXE	OMIM:617186
HP:0002093	Respiratory insufficiency	10342	TFG	ORPHA:90117
HP:0002093	Respiratory insufficiency	2674	GFRA1	OMIM:619887
HP:0002093	Respiratory insufficiency	1605	DAG1	OMIM:616538
HP:0002093	Respiratory insufficiency	7284	TUFM	OMIM:610678
HP:0002093	Respiratory insufficiency	2065	ERBB3	OMIM:607598
HP:0002093	Respiratory insufficiency	4038	LRP4	ORPHA:98913
HP:0002093	Respiratory insufficiency	221264	AK9	ORPHA:98913
HP:0002093	Respiratory insufficiency	199221	DZIP1L	ORPHA:731
HP:0002093	Respiratory insufficiency	5314	PKHD1	ORPHA:731
HP:0002093	Respiratory insufficiency	56975	FAM20C	ORPHA:1832
HP:0002093	Respiratory insufficiency	6310	ATXN1	ORPHA:98755
HP:0002093	Respiratory insufficiency	590	BCHE	ORPHA:132
HP:0002093	Respiratory insufficiency	64135	IFIH1	OMIM:619773
HP:0002093	Respiratory insufficiency	6651	SON	ORPHA:500150
HP:0002093	Respiratory insufficiency	10133	OPTN	OMIM:613435
HP:0002093	Respiratory insufficiency	10133	OPTN	ORPHA:803
HP:0002093	Respiratory insufficiency	3458	IFNG	ORPHA:805
HP:0002093	Respiratory insufficiency	7248	TSC1	ORPHA:805
HP:0002093	Respiratory insufficiency	7249	TSC2	ORPHA:805
HP:0002093	Respiratory insufficiency	55005	RMND1	OMIM:614922
HP:0002093	Respiratory insufficiency	7415	VCP	OMIM:613954
HP:0002093	Respiratory insufficiency	7415	VCP	ORPHA:803
HP:0002093	Respiratory insufficiency	2624	GATA2	ORPHA:228423
HP:0002093	Respiratory insufficiency	4683	NBN	ORPHA:647
HP:0002093	Respiratory insufficiency	2581	GALC	ORPHA:206436
HP:0002093	Respiratory insufficiency	25978	CHMP2B	ORPHA:803
HP:0002093	Respiratory insufficiency	3178	HNRNPA1	ORPHA:803
HP:0002093	Respiratory insufficiency	8148	TAF15	ORPHA:803
HP:0002093	Respiratory insufficiency	5445	PON2	ORPHA:803
HP:0002093	Respiratory insufficiency	9217	VAPB	ORPHA:803
HP:0002093	Respiratory insufficiency	8878	SQSTM1	ORPHA:803
HP:0002093	Respiratory insufficiency	5630	PRPH	ORPHA:803
HP:0002093	Respiratory insufficiency	29110	TBK1	ORPHA:803
HP:0002093	Respiratory insufficiency	55830	GLT8D1	ORPHA:803
HP:0002093	Respiratory insufficiency	755	CFAP410	ORPHA:803
HP:0002093	Respiratory insufficiency	10891	PPARGC1A	ORPHA:803
HP:0002093	Respiratory insufficiency	6647	SOD1	ORPHA:803
HP:0002093	Respiratory insufficiency	9896	FIG4	ORPHA:803
HP:0002093	Respiratory insufficiency	5444	PON1	ORPHA:803
HP:0002093	Respiratory insufficiency	5446	PON3	ORPHA:803
HP:0002093	Respiratory insufficiency	4744	NEFH	ORPHA:803
HP:0002093	Respiratory insufficiency	5216	PFN1	ORPHA:803
HP:0002093	Respiratory insufficiency	54209	TREM2	ORPHA:803
HP:0002093	Respiratory insufficiency	283	ANG	ORPHA:803
HP:0002093	Respiratory insufficiency	29978	UBQLN2	ORPHA:803
HP:0002093	Respiratory insufficiency	2521	FUS	ORPHA:803
HP:0002093	Respiratory insufficiency	6311	ATXN2	ORPHA:803
HP:0002093	Respiratory insufficiency	1610	DAO	ORPHA:803
HP:0002093	Respiratory insufficiency	311	ANXA11	ORPHA:803
HP:0002093	Respiratory insufficiency	23025	UNC13A	ORPHA:803
HP:0002093	Respiratory insufficiency	899	CCNF	ORPHA:803
HP:0002093	Respiratory insufficiency	400916	CHCHD10	ORPHA:803
HP:0002093	Respiratory insufficiency	28962	OSTM1	OMIM:259720
HP:0002093	Respiratory insufficiency	641	BLM	ORPHA:125
HP:0002093	Respiratory insufficiency	1892	ECHS1	OMIM:616277
HP:0002093	Respiratory insufficiency	115286	SLC25A26	OMIM:616794
HP:0002093	Respiratory insufficiency	9054	NFS1	OMIM:619386
HP:0002093	Respiratory insufficiency	27429	HTRA2	OMIM:617248
HP:0002093	Respiratory insufficiency	132001	TAMM41	OMIM:620139
HP:0002093	Respiratory insufficiency	165918	RNF168	ORPHA:420741
HP:0002093	Respiratory insufficiency	84705	GTPBP3	ORPHA:444013
HP:0002093	Respiratory insufficiency	4054	LTBP3	OMIM:617809
HP:0002093	Respiratory insufficiency	3835	KIF22	ORPHA:93360
HP:0002093	Respiratory insufficiency	79158	GNPTAB	ORPHA:576
HP:0002093	Respiratory insufficiency	1438	CSF2RA	ORPHA:264675
HP:0002093	Respiratory insufficiency	6609	SMPD1	ORPHA:77293
HP:0002093	Respiratory insufficiency	4629	MYH11	OMIM:619351
HP:0002093	Respiratory insufficiency	5631	PRPS1	ORPHA:1187
HP:0002093	Respiratory insufficiency	2653	GCSH	OMIM:620423
HP:0002093	Respiratory insufficiency	4556	MT-TE	ORPHA:254864
HP:0002093	Respiratory insufficiency	55687	TRMU	ORPHA:254864
HP:0002093	Respiratory insufficiency	84842	HPDL	OMIM:619026
HP:0002093	Respiratory insufficiency	27245	AHDC1	ORPHA:412069
HP:0002093	Respiratory insufficiency	1806	DPYD	ORPHA:1675
HP:0002093	Respiratory insufficiency	79736	TEFM	OMIM:620451
HP:0002093	Respiratory insufficiency	7187	TRAF3	ORPHA:1930
HP:0002093	Respiratory insufficiency	81622	UNC93B1	ORPHA:1930
HP:0002093	Respiratory insufficiency	148022	TICAM1	ORPHA:1930
HP:0002093	Respiratory insufficiency	7098	TLR3	ORPHA:1930
HP:0002093	Respiratory insufficiency	60482	SLC5A7	ORPHA:98914
HP:0002093	Respiratory insufficiency	6843	VAMP1	ORPHA:98914
HP:0002093	Respiratory insufficiency	123263	MTFMT	OMIM:614947
HP:0002093	Respiratory insufficiency	9152	SLC6A5	OMIM:614618
HP:0002093	Respiratory insufficiency	37	ACADVL	OMIM:201475
HP:0002093	Respiratory insufficiency	3899	AFF3	OMIM:619297
HP:0002093	Respiratory insufficiency	3815	KIT	ORPHA:280785
HP:0002093	Respiratory insufficiency	7259	TSPYL1	OMIM:608800
HP:0002093	Respiratory insufficiency	439	GET3	OMIM:620203
HP:0002093	Respiratory insufficiency	57211	ADGRG6	OMIM:616503
HP:0002093	Respiratory insufficiency	79770	TXNDC15	OMIM:619879
HP:0002093	Respiratory insufficiency	1644	DDC	OMIM:608643
HP:0002093	Respiratory insufficiency	1280	COL2A1	ORPHA:93296
HP:0002093	Respiratory insufficiency	3920	LAMP2	ORPHA:34587
HP:0002093	Respiratory insufficiency	9968	MED12	ORPHA:2728
HP:0002093	Respiratory insufficiency	23729	SHPK	ORPHA:440713
HP:0002093	Respiratory insufficiency	3284	HSD3B2	ORPHA:90791
HP:0002093	Respiratory insufficiency	2584	GALK1	ORPHA:79237
HP:0002093	Respiratory insufficiency	139818	DOCK11	OMIM:301109
HP:0005938	Abnormal respiratory motile cilium morphology	51314	NME8	OMIM:610852
HP:0005938	Abnormal respiratory motile cilium morphology	55172	DNAAF2	OMIM:612518
HP:0005938	Abnormal respiratory motile cilium morphology	388389	DNAAF19	OMIM:614679
HP:0005938	Abnormal respiratory motile cilium morphology	6674	SPAG1	OMIM:615505
HP:0005938	Abnormal respiratory motile cilium morphology	27019	DNAI1	OMIM:244400
HP:0005938	Abnormal respiratory motile cilium morphology	56683	CFAP298	OMIM:615500
HP:0005938	Abnormal respiratory motile cilium morphology	54919	DNAAF5	OMIM:614874
HP:0005938	Abnormal respiratory motile cilium morphology	115948	ODAD3	OMIM:616037
HP:0005938	Abnormal respiratory motile cilium morphology	64446	DNAI2	OMIM:612444
HP:0005938	Abnormal respiratory motile cilium morphology	83544	DNAL1	OMIM:614017
HP:0005938	Abnormal respiratory motile cilium morphology	1770	DNAH9	OMIM:618300
HP:0005938	Abnormal respiratory motile cilium morphology	123872	DNAAF1	OMIM:613193
HP:0005938	Abnormal respiratory motile cilium morphology	93233	ODAD1	OMIM:615067
HP:0005938	Abnormal respiratory motile cilium morphology	56171	DNAH7	OMIM:620356
HP:0005938	Abnormal respiratory motile cilium morphology	8701	DNAH11	OMIM:611884
HP:0005938	Abnormal respiratory motile cilium morphology	84071	ARMC2	OMIM:618433
HP:0005938	Abnormal respiratory motile cilium morphology	55036	CCDC40	OMIM:613808
HP:0005938	Abnormal respiratory motile cilium morphology	339829	CCDC39	OMIM:613807
HP:0005938	Abnormal respiratory motile cilium morphology	51364	ZMYND10	OMIM:615444
HP:0005938	Abnormal respiratory motile cilium morphology	85016	CFAP300	OMIM:618063
HP:0005938	Abnormal respiratory motile cilium morphology	54970	TTC12	OMIM:618801
HP:0005938	Abnormal respiratory motile cilium morphology	352909	DNAAF3	OMIM:606763
HP:0005938	Abnormal respiratory motile cilium morphology	23639	DNAAF11	OMIM:614935
HP:0005938	Abnormal respiratory motile cilium morphology	221421	RSPH9	OMIM:612650
HP:0005938	Abnormal respiratory motile cilium morphology	345895	RSPH4A	OMIM:612649
HP:0005938	Abnormal respiratory motile cilium morphology	374407	DNAJB13	OMIM:617091
HP:0005938	Abnormal respiratory motile cilium morphology	8382	NME5	OMIM:620032
HP:0005938	Abnormal respiratory motile cilium morphology	83861	RSPH3	OMIM:616481
HP:0005942	Desquamative interstitial pneumonitis	6439	SFTPB	OMIM:265120
HP:0005942	Desquamative interstitial pneumonitis	6774	STAT3	OMIM:615952
HP:0005942	Desquamative interstitial pneumonitis	21	ABCA3	OMIM:610921
HP:0005942	Desquamative interstitial pneumonitis	6440	SFTPC	OMIM:610913
HP:0005943	Respiratory arrest	27429	HTRA2	OMIM:617248
HP:0005943	Respiratory arrest	60482	SLC5A7	ORPHA:98914
HP:0005943	Respiratory arrest	4649	MYO9A	ORPHA:98914
HP:0005943	Respiratory arrest	1305	COL13A1	ORPHA:98914
HP:0005943	Respiratory arrest	1103	CHAT	ORPHA:98914
HP:0005943	Respiratory arrest	6576	SLC25A1	ORPHA:98914
HP:0005943	Respiratory arrest	6843	VAMP1	ORPHA:98914
HP:0005943	Respiratory arrest	375790	AGRN	ORPHA:98914
HP:0005943	Respiratory arrest	127833	SYT2	ORPHA:98914
HP:0005943	Respiratory arrest	6572	SLC18A3	ORPHA:98914
HP:0005943	Respiratory arrest	6616	SNAP25	ORPHA:98914
HP:0005943	Respiratory arrest	123263	MTFMT	OMIM:614947
HP:0005943	Respiratory arrest	9152	SLC6A5	OMIM:614618
HP:0005943	Respiratory arrest	37	ACADVL	OMIM:201475
HP:0005943	Respiratory arrest	1639	DCTN1	OMIM:168605
HP:0005943	Respiratory arrest	3899	AFF3	OMIM:619297
HP:0005943	Respiratory arrest	1376	CPT2	OMIM:600649
HP:0005943	Respiratory arrest	9997	SCO2	OMIM:604377
HP:0005943	Respiratory arrest	3815	KIT	ORPHA:280785
HP:0005943	Respiratory arrest	7259	TSPYL1	OMIM:608800
HP:0005943	Respiratory arrest	4633	MYL2	OMIM:619424
HP:0005943	Respiratory arrest	2879	GPX4	ORPHA:93317
HP:0005943	Respiratory arrest	788	SLC25A20	OMIM:212138
HP:0005943	Respiratory arrest	439	GET3	OMIM:620203
HP:0005943	Respiratory arrest	57211	ADGRG6	OMIM:616503
HP:0005943	Respiratory arrest	79770	TXNDC15	OMIM:619879
HP:0005943	Respiratory arrest	1644	DDC	OMIM:608643
HP:0005943	Respiratory arrest	81031	SLC2A10	ORPHA:3342
HP:0005943	Respiratory arrest	1280	COL2A1	ORPHA:93296
HP:0005943	Respiratory arrest	3920	LAMP2	ORPHA:34587
HP:0005944	Bilateral lung agenesis	54361	WNT4	OMIM:611812
HP:0005944	Bilateral lung agenesis	64220	STRA6	OMIM:601186
HP:0005944	Bilateral lung agenesis	340419	RSPO2	OMIM:618021
HP:0005944	Bilateral lung agenesis	26123	TCTN3	ORPHA:2753
HP:0005946	Ventilator dependence with inability to wean	7084	TK2	ORPHA:254875
HP:0005946	Ventilator dependence with inability to wean	4556	MT-TE	ORPHA:254864
HP:0005946	Ventilator dependence with inability to wean	55687	TRMU	ORPHA:254864
HP:0005946	Ventilator dependence with inability to wean	210	ALAD	ORPHA:100924
HP:0005946	Ventilator dependence with inability to wean	3508	IGHMBP2	OMIM:604320
HP:0005947	Decreased sensitivity to hypoxemia	8518	ELP1	OMIM:223900
HP:0005948	Multiple pulmonary cysts	8565	YARS1	OMIM:619418
HP:0005948	Multiple pulmonary cysts	729230	CCR2	OMIM:219600
HP:0005948	Multiple pulmonary cysts	201163	FLCN	OMIM:135150
HP:0005948	Multiple pulmonary cysts	6720	SREBF1	OMIM:158310
HP:0005948	Multiple pulmonary cysts	5297	PI4KA	ORPHA:436252
HP:0005948	Multiple pulmonary cysts	57217	TTC7A	ORPHA:436252
HP:0005948	Multiple pulmonary cysts	57217	TTC7A	OMIM:243150
HP:0005948	Multiple pulmonary cysts	54361	WNT4	OMIM:611812
HP:0005948	Multiple pulmonary cysts	6440	SFTPC	ORPHA:2032
HP:0005948	Multiple pulmonary cysts	729238	SFTPA2	ORPHA:2032
HP:0005948	Multiple pulmonary cysts	79991	STN1	ORPHA:2032
HP:0005948	Multiple pulmonary cysts	653509	SFTPA1	ORPHA:2032
HP:0005948	Multiple pulmonary cysts	21	ABCA3	ORPHA:2032
HP:0005948	Multiple pulmonary cysts	21	ABCA3	OMIM:610921
HP:0005948	Multiple pulmonary cysts	1832	DSP	ORPHA:2032
HP:0005948	Multiple pulmonary cysts	727897	MUC5B	ORPHA:2032
HP:0005948	Multiple pulmonary cysts	10144	FAM13A	ORPHA:2032
HP:0005948	Multiple pulmonary cysts	23250	ATP11A	ORPHA:2032
HP:0005948	Multiple pulmonary cysts	91039	DPP9	ORPHA:2032
HP:0005948	Multiple pulmonary cysts	51750	RTEL1	ORPHA:2032
HP:0005948	Multiple pulmonary cysts	7012	TERC	ORPHA:2032
HP:0005948	Multiple pulmonary cysts	5073	PARN	ORPHA:2032
HP:0005948	Multiple pulmonary cysts	5073	PARN	OMIM:616371
HP:0005948	Multiple pulmonary cysts	7015	TERT	ORPHA:2032
HP:0005949	Apneic episodes in infancy	2258	FGF13	OMIM:301058
HP:0005949	Apneic episodes in infancy	4728	NDUFS8	OMIM:618222
HP:0005949	Apneic episodes in infancy	57545	CC2D2A	OMIM:619111
HP:0005949	Apneic episodes in infancy	112939	NACC1	ORPHA:500545
HP:0005949	Apneic episodes in infancy	6329	SCN4A	OMIM:608390
HP:0005949	Apneic episodes in infancy	9200	HACD1	OMIM:619967
HP:0005949	Apneic episodes in infancy	36	ACADSB	OMIM:610006
HP:0005949	Apneic episodes in infancy	8398	PLA2G6	ORPHA:35069
HP:0005949	Apneic episodes in infancy	6331	SCN5A	OMIM:272120
HP:0005949	Apneic episodes in infancy	2203	FBP1	ORPHA:348
HP:0005950	Laryngeal web	139285	AMER1	OMIM:300373
HP:0005950	Laryngeal web	4519	MT-CYB	ORPHA:137675
HP:0005950	Laryngeal web	23498	HAAO	OMIM:617660
HP:0005950	Laryngeal web	80144	FRAS1	OMIM:219000
HP:0005951	Progressive inspiratory stridor	113278	SLC52A3	OMIM:211500
HP:0002795	Abnormal respiratory system physiology	2332	FMR1	ORPHA:908
HP:0002795	Abnormal respiratory system physiology	4860	PNP	OMIM:613179
HP:0002795	Abnormal respiratory system physiology	3659	IRF1	OMIM:620668
HP:0002795	Abnormal respiratory system physiology	472	ATM	OMIM:208900
HP:0002795	Abnormal respiratory system physiology	8456	FOXN1	ORPHA:83471
HP:0002795	Abnormal respiratory system physiology	79631	EFL1	ORPHA:811
HP:0002795	Abnormal respiratory system physiology	5994	RFXAP	ORPHA:572
HP:0002795	Abnormal respiratory system physiology	4261	CIITA	ORPHA:572
HP:0002795	Abnormal respiratory system physiology	5993	RFX5	ORPHA:572
HP:0002795	Abnormal respiratory system physiology	8625	RFXANK	ORPHA:572
HP:0002795	Abnormal respiratory system physiology	5692	PSMB4	OMIM:617591
HP:0002795	Abnormal respiratory system physiology	3394	IRF8	OMIM:226990
HP:0002795	Abnormal respiratory system physiology	3321	IGSF3	OMIM:149700
HP:0002795	Abnormal respiratory system physiology	80169	CTC1	ORPHA:1775
HP:0002795	Abnormal respiratory system physiology	55651	NHP2	ORPHA:1775
HP:0002795	Abnormal respiratory system physiology	79650	USB1	ORPHA:1775
HP:0002795	Abnormal respiratory system physiology	55135	WRAP53	ORPHA:1775
HP:0002795	Abnormal respiratory system physiology	55505	NOP10	ORPHA:1775
HP:0002795	Abnormal respiratory system physiology	7298	TYMS	ORPHA:1775
HP:0002795	Abnormal respiratory system physiology	1717	DHCR7	ORPHA:818
HP:0002795	Abnormal respiratory system physiology	3852	KRT5	ORPHA:79396
HP:0002795	Abnormal respiratory system physiology	3861	KRT14	ORPHA:79396
HP:0002795	Abnormal respiratory system physiology	63982	ANO3	ORPHA:420485
HP:0002795	Abnormal respiratory system physiology	7473	WNT3	ORPHA:3301
HP:0002795	Abnormal respiratory system physiology	340419	RSPO2	ORPHA:3301
HP:0002795	Abnormal respiratory system physiology	101929726	MYMX	ORPHA:1358
HP:0002795	Abnormal respiratory system physiology	6134	RPL10	OMIM:300998
HP:0002795	Abnormal respiratory system physiology	6134	RPL10	ORPHA:459070
HP:0002795	Abnormal respiratory system physiology	6134	RPL10	ORPHA:435938
HP:0002795	Abnormal respiratory system physiology	104	ADARB1	OMIM:618862
HP:0002795	Abnormal respiratory system physiology	6477	SIAH1	OMIM:619314
HP:0002795	Abnormal respiratory system physiology	6659	SOX4	OMIM:618506
HP:0002795	Abnormal respiratory system physiology	2972	BRF1	OMIM:616202
HP:0002795	Abnormal respiratory system physiology	2972	BRF1	ORPHA:444072
HP:0002795	Abnormal respiratory system physiology	4897	NRCAM	OMIM:619833
HP:0002795	Abnormal respiratory system physiology	23498	HAAO	OMIM:617660
HP:0002795	Abnormal respiratory system physiology	3020	H3-3A	OMIM:619720
HP:0002795	Abnormal respiratory system physiology	3021	H3-3B	OMIM:619721
HP:0002795	Abnormal respiratory system physiology	80816	ASXL3	OMIM:615485
HP:0002795	Abnormal respiratory system physiology	6926	TBX3	ORPHA:3138
HP:0002795	Abnormal respiratory system physiology	54496	PRMT7	OMIM:617157
HP:0002795	Abnormal respiratory system physiology	54496	PRMT7	ORPHA:464288
HP:0002795	Abnormal respiratory system physiology	157680	VPS13B	OMIM:216550
HP:0002795	Abnormal respiratory system physiology	8493	PPM1D	OMIM:617450
HP:0002795	Abnormal respiratory system physiology	91461	PKDCC	OMIM:618821
HP:0002795	Abnormal respiratory system physiology	79753	SNIP1	OMIM:614501
HP:0002795	Abnormal respiratory system physiology	10236	HNRNPR	OMIM:620073
HP:0002795	Abnormal respiratory system physiology	51341	ZBTB7A	OMIM:619769
HP:0002795	Abnormal respiratory system physiology	3778	KCNMA1	OMIM:618729
HP:0002795	Abnormal respiratory system physiology	4212	MEIS2	ORPHA:261190
HP:0002795	Abnormal respiratory system physiology	55612	FERMT1	ORPHA:2908
HP:0002795	Abnormal respiratory system physiology	1062	CENPE	OMIM:616051
HP:0002795	Abnormal respiratory system physiology	6091	ROBO1	OMIM:620305
HP:0002795	Abnormal respiratory system physiology	4796	TONSL	ORPHA:93357
HP:0002795	Abnormal respiratory system physiology	4796	TONSL	OMIM:271510
HP:0002795	Abnormal respiratory system physiology	51199	NIN	ORPHA:319675
HP:0002795	Abnormal respiratory system physiology	2697	GJA1	OMIM:218400
HP:0002795	Abnormal respiratory system physiology	57167	SALL4	OMIM:607323
HP:0002795	Abnormal respiratory system physiology	695	BTK	ORPHA:47
HP:0002795	Abnormal respiratory system physiology	7477	WNT7B	ORPHA:2470
HP:0002795	Abnormal respiratory system physiology	5915	RARB	ORPHA:2470
HP:0002795	Abnormal respiratory system physiology	10682	EBP	ORPHA:35173
HP:0002795	Abnormal respiratory system physiology	4763	NF1	ORPHA:97685
HP:0002795	Abnormal respiratory system physiology	10992	SF3B2	OMIM:164210
HP:0002795	Abnormal respiratory system physiology	81839	VANGL1	ORPHA:3027
HP:0002795	Abnormal respiratory system physiology	80199	FUZ	ORPHA:3027
HP:0002795	Abnormal respiratory system physiology	55784	MCTP2	ORPHA:1596
HP:0002795	Abnormal respiratory system physiology	51132	RLIM	OMIM:300978
HP:0002795	Abnormal respiratory system physiology	50814	NSDHL	OMIM:308050
HP:0002795	Abnormal respiratory system physiology	23384	SPECC1L	OMIM:145420
HP:0002795	Abnormal respiratory system physiology	29980	DONSON	OMIM:251230
HP:0002795	Abnormal respiratory system physiology	26227	PHGDH	OMIM:256520
HP:0002795	Abnormal respiratory system physiology	55165	CEP55	OMIM:236500
HP:0002795	Abnormal respiratory system physiology	27031	NPHP3	OMIM:208540
HP:0002795	Abnormal respiratory system physiology	27031	NPHP3	ORPHA:3032
HP:0002795	Abnormal respiratory system physiology	342035	GLDN	OMIM:617194
HP:0002795	Abnormal respiratory system physiology	10195	ALG3	ORPHA:79321
HP:0002795	Abnormal respiratory system physiology	57505	AARS2	OMIM:614096
HP:0002795	Abnormal respiratory system physiology	1496	CTNNA2	OMIM:618174
HP:0002795	Abnormal respiratory system physiology	23308	ICOSLG	OMIM:620825
HP:0002795	Abnormal respiratory system physiology	5897	RAG2	OMIM:601457
HP:0002795	Abnormal respiratory system physiology	5897	RAG2	ORPHA:39041
HP:0002795	Abnormal respiratory system physiology	5897	RAG2	OMIM:603554
HP:0002795	Abnormal respiratory system physiology	3718	JAK3	OMIM:600802
HP:0002795	Abnormal respiratory system physiology	29927	SEC61A1	OMIM:620674
HP:0002795	Abnormal respiratory system physiology	5698	PSMB9	OMIM:620796
HP:0002795	Abnormal respiratory system physiology	2188	FANCF	OMIM:603467
HP:0002795	Abnormal respiratory system physiology	7535	ZAP70	OMIM:269840
HP:0002795	Abnormal respiratory system physiology	7535	ZAP70	ORPHA:911
HP:0002795	Abnormal respiratory system physiology	915	CD3D	ORPHA:169160
HP:0002795	Abnormal respiratory system physiology	916	CD3E	ORPHA:169160
HP:0002795	Abnormal respiratory system physiology	919	CD247	ORPHA:169160
HP:0002795	Abnormal respiratory system physiology	9841	ZBTB24	OMIM:614069
HP:0002795	Abnormal respiratory system physiology	64421	DCLRE1C	ORPHA:39041
HP:0002795	Abnormal respiratory system physiology	64421	DCLRE1C	OMIM:603554
HP:0002795	Abnormal respiratory system physiology	64421	DCLRE1C	OMIM:602450
HP:0002795	Abnormal respiratory system physiology	3575	IL7R	ORPHA:39041
HP:0002795	Abnormal respiratory system physiology	3575	IL7R	OMIM:608971
HP:0002795	Abnormal respiratory system physiology	11128	POLR3A	OMIM:264090
HP:0002795	Abnormal respiratory system physiology	55343	SLC35C1	OMIM:266265
HP:0002795	Abnormal respiratory system physiology	5728	PTEN	ORPHA:397596
HP:0002795	Abnormal respiratory system physiology	629	CFB	OMIM:615561
HP:0002795	Abnormal respiratory system physiology	2215	FCGR3B	ORPHA:464370
HP:0002795	Abnormal respiratory system physiology	5966	REL	OMIM:619652
HP:0002795	Abnormal respiratory system physiology	25836	NIPBL	OMIM:122470
HP:0002795	Abnormal respiratory system physiology	3594	IL12RB1	ORPHA:319552
HP:0002795	Abnormal respiratory system physiology	6728	SRP19	ORPHA:486
HP:0002795	Abnormal respiratory system physiology	2672	GFI1	ORPHA:486
HP:0002795	Abnormal respiratory system physiology	6850	SYK	OMIM:619381
HP:0002795	Abnormal respiratory system physiology	4921	DDR2	OMIM:271665
HP:0002795	Abnormal respiratory system physiology	79912	PYROXD1	OMIM:617258
HP:0002795	Abnormal respiratory system physiology	1736	DKC1	OMIM:305000
HP:0002795	Abnormal respiratory system physiology	411	ARSB	OMIM:253200
HP:0002795	Abnormal respiratory system physiology	114548	NLRP3	ORPHA:575
HP:0002795	Abnormal respiratory system physiology	54	ACP5	OMIM:607944
HP:0002795	Abnormal respiratory system physiology	6445	SGCG	OMIM:253700
HP:0002795	Abnormal respiratory system physiology	80324	PUS1	OMIM:600462
HP:0002795	Abnormal respiratory system physiology	2720	GLB1	OMIM:253010
HP:0002795	Abnormal respiratory system physiology	23495	TNFRSF13B	ORPHA:1572
HP:0002795	Abnormal respiratory system physiology	115650	TNFRSF13C	ORPHA:1572
HP:0002795	Abnormal respiratory system physiology	1380	CR2	ORPHA:1572
HP:0002795	Abnormal respiratory system physiology	8742	TNFSF12	ORPHA:1572
HP:0002795	Abnormal respiratory system physiology	930	CD19	ORPHA:1572
HP:0002795	Abnormal respiratory system physiology	29851	ICOS	ORPHA:1572
HP:0002795	Abnormal respiratory system physiology	931	MS4A1	ORPHA:1572
HP:0002795	Abnormal respiratory system physiology	975	CD81	ORPHA:1572
HP:0002795	Abnormal respiratory system physiology	374393	FAM111B	OMIM:615704
HP:0002795	Abnormal respiratory system physiology	3257	HPS1	OMIM:203300
HP:0002795	Abnormal respiratory system physiology	89781	HPS4	OMIM:614073
HP:0002795	Abnormal respiratory system physiology	6117	RPA1	OMIM:619767
HP:0002795	Abnormal respiratory system physiology	139818	DOCK11	OMIM:301109
HP:0002795	Abnormal respiratory system physiology	122622	ADSS1	ORPHA:482601
HP:0002795	Abnormal respiratory system physiology	54332	GDAP1	ORPHA:99948
HP:0002795	Abnormal respiratory system physiology	9990	SLC12A6	OMIM:218000
HP:0002795	Abnormal respiratory system physiology	4352	MPL	ORPHA:71493
HP:0002795	Abnormal respiratory system physiology	7066	THPO	ORPHA:71493
HP:0002795	Abnormal respiratory system physiology	4558	MT-TF	ORPHA:550
HP:0002795	Abnormal respiratory system physiology	4572	MT-TQ	ORPHA:550
HP:0002795	Abnormal respiratory system physiology	4512	MT-CO1	ORPHA:550
HP:0002795	Abnormal respiratory system physiology	4513	MT-CO2	ORPHA:550
HP:0002795	Abnormal respiratory system physiology	4514	MT-CO3	ORPHA:550
HP:0002795	Abnormal respiratory system physiology	4575	MT-TS2	ORPHA:550
HP:0002795	Abnormal respiratory system physiology	4564	MT-TH	ORPHA:550
HP:0002795	Abnormal respiratory system physiology	26235	FBXL4	OMIM:615471
HP:0002795	Abnormal respiratory system physiology	776	CACNA1D	OMIM:615474
HP:0002795	Abnormal respiratory system physiology	776	CACNA1D	ORPHA:369929
HP:0002795	Abnormal respiratory system physiology	81857	MED25	OMIM:616449
HP:0002795	Abnormal respiratory system physiology	81857	MED25	ORPHA:464738
HP:0002795	Abnormal respiratory system physiology	3875	KRT18	OMIM:215600
HP:0002795	Abnormal respiratory system physiology	51601	LIPT1	OMIM:616299
HP:0002795	Abnormal respiratory system physiology	9382	COG1	ORPHA:263508
HP:0002795	Abnormal respiratory system physiology	1340	COX6B1	OMIM:619051
HP:0002795	Abnormal respiratory system physiology	1351	COX8A	OMIM:619059
HP:0002795	Abnormal respiratory system physiology	9469	CHST3	OMIM:143095
HP:0002795	Abnormal respiratory system physiology	9377	COX5A	OMIM:619064
HP:0002795	Abnormal respiratory system physiology	55697	VAC14	ORPHA:3472
HP:0002795	Abnormal respiratory system physiology	760	CA2	ORPHA:2785
HP:0002795	Abnormal respiratory system physiology	57514	ARHGAP31	OMIM:100300
HP:0002795	Abnormal respiratory system physiology	57514	ARHGAP31	ORPHA:974
HP:0002795	Abnormal respiratory system physiology	8517	IKBKG	ORPHA:464
HP:0002795	Abnormal respiratory system physiology	23556	PIGN	ORPHA:280633
HP:0002795	Abnormal respiratory system physiology	3516	RBPJ	ORPHA:974
HP:0002795	Abnormal respiratory system physiology	4851	NOTCH1	ORPHA:974
HP:0002795	Abnormal respiratory system physiology	4851	NOTCH1	OMIM:616028
HP:0002795	Abnormal respiratory system physiology	57572	DOCK6	ORPHA:974
HP:0002795	Abnormal respiratory system physiology	285203	EOGT	ORPHA:974
HP:0002795	Abnormal respiratory system physiology	54567	DLL4	ORPHA:974
HP:0002795	Abnormal respiratory system physiology	6910	TBX5	OMIM:142900
HP:0002795	Abnormal respiratory system physiology	8295	TRRAP	OMIM:618454
HP:0002795	Abnormal respiratory system physiology	23590	PDSS1	OMIM:614651
HP:0002795	Abnormal respiratory system physiology	5052	PRDX1	OMIM:277400
HP:0002795	Abnormal respiratory system physiology	9131	AIFM1	ORPHA:238329
HP:0002795	Abnormal respiratory system physiology	3763	KCNJ6	ORPHA:435628
HP:0002795	Abnormal respiratory system physiology	3763	KCNJ6	OMIM:614098
HP:0002795	Abnormal respiratory system physiology	54539	NDUFB11	ORPHA:2609
HP:0002795	Abnormal respiratory system physiology	25915	NDUFAF3	ORPHA:2609
HP:0002795	Abnormal respiratory system physiology	51103	NDUFAF1	ORPHA:2609
HP:0002795	Abnormal respiratory system physiology	91942	NDUFAF2	ORPHA:2609
HP:0002795	Abnormal respiratory system physiology	51300	TIMMDC1	ORPHA:2609
HP:0002795	Abnormal respiratory system physiology	4716	NDUFB10	ORPHA:2609
HP:0002795	Abnormal respiratory system physiology	4723	NDUFV1	ORPHA:2609
HP:0002795	Abnormal respiratory system physiology	55572	FOXRED1	ORPHA:2609
HP:0002795	Abnormal respiratory system physiology	55572	FOXRED1	OMIM:618241
HP:0002795	Abnormal respiratory system physiology	284184	NDUFAF8	ORPHA:2609
HP:0002795	Abnormal respiratory system physiology	55863	TMEM126B	ORPHA:2609
HP:0002795	Abnormal respiratory system physiology	4535	MT-ND1	ORPHA:2609
HP:0002795	Abnormal respiratory system physiology	4537	MT-ND3	ORPHA:2609
HP:0002795	Abnormal respiratory system physiology	4729	NDUFV2	ORPHA:2609
HP:0002795	Abnormal respiratory system physiology	4694	NDUFA1	ORPHA:2609
HP:0002795	Abnormal respiratory system physiology	4720	NDUFS2	ORPHA:2609
HP:0002795	Abnormal respiratory system physiology	4720	NDUFS2	OMIM:618228
HP:0002795	Abnormal respiratory system physiology	4724	NDUFS4	ORPHA:2609
HP:0002795	Abnormal respiratory system physiology	4724	NDUFS4	OMIM:252010
HP:0002795	Abnormal respiratory system physiology	4726	NDUFS6	ORPHA:2609
HP:0002795	Abnormal respiratory system physiology	4728	NDUFS8	ORPHA:2609
HP:0002795	Abnormal respiratory system physiology	4728	NDUFS8	OMIM:618222
HP:0002795	Abnormal respiratory system physiology	4722	NDUFS3	ORPHA:2609
HP:0002795	Abnormal respiratory system physiology	4722	NDUFS3	OMIM:618230
HP:0002795	Abnormal respiratory system physiology	79133	NDUFAF5	ORPHA:2609
HP:0002795	Abnormal respiratory system physiology	126328	NDUFA11	ORPHA:2609
HP:0002795	Abnormal respiratory system physiology	4709	NDUFB3	ORPHA:2609
HP:0002795	Abnormal respiratory system physiology	80224	NUBPL	ORPHA:2609
HP:0002795	Abnormal respiratory system physiology	29078	NDUFAF4	ORPHA:2609
HP:0002795	Abnormal respiratory system physiology	374291	NDUFS7	ORPHA:2609
HP:0002795	Abnormal respiratory system physiology	374291	NDUFS7	OMIM:618224
HP:0002795	Abnormal respiratory system physiology	4700	NDUFA6	ORPHA:2609
HP:0002795	Abnormal respiratory system physiology	4700	NDUFA6	OMIM:618253
HP:0002795	Abnormal respiratory system physiology	4536	MT-ND2	ORPHA:2609
HP:0002795	Abnormal respiratory system physiology	4719	NDUFS1	ORPHA:2609
HP:0002795	Abnormal respiratory system physiology	4719	NDUFS1	OMIM:618226
HP:0002795	Abnormal respiratory system physiology	4715	NDUFB9	ORPHA:2609
HP:0002795	Abnormal respiratory system physiology	1144	CHRND	OMIM:616322
HP:0002795	Abnormal respiratory system physiology	1144	CHRND	OMIM:616321
HP:0002795	Abnormal respiratory system physiology	1144	CHRND	OMIM:616323
HP:0002795	Abnormal respiratory system physiology	10046	MAMLD1	ORPHA:456328
HP:0002795	Abnormal respiratory system physiology	4534	MTM1	ORPHA:456328
HP:0002795	Abnormal respiratory system physiology	8506	CNTNAP1	OMIM:618186
HP:0002795	Abnormal respiratory system physiology	5393	EXOSC9	OMIM:618065
HP:0002795	Abnormal respiratory system physiology	4750	NEK1	OMIM:617892
HP:0002795	Abnormal respiratory system physiology	29925	GMPPB	OMIM:615352
HP:0002795	Abnormal respiratory system physiology	29925	GMPPB	ORPHA:370968
HP:0002795	Abnormal respiratory system physiology	29925	GMPPB	ORPHA:363623
HP:0002795	Abnormal respiratory system physiology	51569	UFM1	OMIM:617899
HP:0002795	Abnormal respiratory system physiology	5913	RAPSN	OMIM:616326
HP:0002795	Abnormal respiratory system physiology	5913	RAPSN	ORPHA:994
HP:0002795	Abnormal respiratory system physiology	5913	RAPSN	OMIM:618388
HP:0002795	Abnormal respiratory system physiology	80308	FLAD1	OMIM:255100
HP:0002795	Abnormal respiratory system physiology	4593	MUSK	OMIM:616325
HP:0002795	Abnormal respiratory system physiology	4593	MUSK	ORPHA:994
HP:0002795	Abnormal respiratory system physiology	1145	CHRNE	OMIM:616324
HP:0002795	Abnormal respiratory system physiology	1593	CYP27A1	OMIM:213700
HP:0002795	Abnormal respiratory system physiology	4625	MYH7	ORPHA:1880
HP:0002795	Abnormal respiratory system physiology	4625	MYH7	OMIM:255160
HP:0002795	Abnormal respiratory system physiology	7138	TNNT1	OMIM:620389
HP:0002795	Abnormal respiratory system physiology	7138	TNNT1	OMIM:605355
HP:0002795	Abnormal respiratory system physiology	2261	FGFR3	ORPHA:93274
HP:0002795	Abnormal respiratory system physiology	2261	FGFR3	ORPHA:93262
HP:0002795	Abnormal respiratory system physiology	2261	FGFR3	ORPHA:1860
HP:0002795	Abnormal respiratory system physiology	2261	FGFR3	OMIM:187601
HP:0002795	Abnormal respiratory system physiology	3766	KCNJ10	ORPHA:705
HP:0002795	Abnormal respiratory system physiology	2299	FOXI1	ORPHA:705
HP:0002795	Abnormal respiratory system physiology	5172	SLC26A4	ORPHA:705
HP:0002795	Abnormal respiratory system physiology	58	ACTA1	OMIM:620265
HP:0002795	Abnormal respiratory system physiology	58	ACTA1	ORPHA:171436
HP:0002795	Abnormal respiratory system physiology	58	ACTA1	OMIM:161800
HP:0002795	Abnormal respiratory system physiology	58	ACTA1	ORPHA:97244
HP:0002795	Abnormal respiratory system physiology	51	ACOX1	ORPHA:2971
HP:0002795	Abnormal respiratory system physiology	22947	DUX4L1	ORPHA:269
HP:0002795	Abnormal respiratory system physiology	1789	DNMT3B	ORPHA:269
HP:0002795	Abnormal respiratory system physiology	2483	FRG1	ORPHA:269
HP:0002795	Abnormal respiratory system physiology	23347	SMCHD1	ORPHA:269
HP:0002795	Abnormal respiratory system physiology	100288687	DUX4	ORPHA:269
HP:0002795	Abnormal respiratory system physiology	64220	STRA6	OMIM:601186
HP:0002795	Abnormal respiratory system physiology	79581	SLC52A2	OMIM:614707
HP:0002795	Abnormal respiratory system physiology	57176	VARS2	OMIM:615917
HP:0002795	Abnormal respiratory system physiology	2317	FLNB	ORPHA:56305
HP:0002795	Abnormal respiratory system physiology	2317	FLNB	ORPHA:503
HP:0002795	Abnormal respiratory system physiology	5604	MAP2K1	ORPHA:389
HP:0002795	Abnormal respiratory system physiology	4893	NRAS	ORPHA:389
HP:0002795	Abnormal respiratory system physiology	673	BRAF	ORPHA:389
HP:0002795	Abnormal respiratory system physiology	1373	CPS1	ORPHA:147
HP:0002795	Abnormal respiratory system physiology	1636	ACE	OMIM:267430
HP:0002795	Abnormal respiratory system physiology	183	AGT	OMIM:267430
HP:0002795	Abnormal respiratory system physiology	185	AGTR1	OMIM:267430
HP:0002795	Abnormal respiratory system physiology	5972	REN	OMIM:267430
HP:0002795	Abnormal respiratory system physiology	2617	GARS1	OMIM:619042
HP:0002795	Abnormal respiratory system physiology	6662	SOX9	ORPHA:140
HP:0002795	Abnormal respiratory system physiology	55112	DYNC2I1	ORPHA:93271
HP:0002795	Abnormal respiratory system physiology	55112	DYNC2I1	ORPHA:474
HP:0002795	Abnormal respiratory system physiology	57560	IFT80	ORPHA:93271
HP:0002795	Abnormal respiratory system physiology	57560	IFT80	ORPHA:474
HP:0002795	Abnormal respiratory system physiology	57539	WDR35	ORPHA:93271
HP:0002795	Abnormal respiratory system physiology	79659	DYNC2H1	ORPHA:93271
HP:0002795	Abnormal respiratory system physiology	79659	DYNC2H1	ORPHA:474
HP:0002795	Abnormal respiratory system physiology	89891	DYNC2I2	ORPHA:93271
HP:0002795	Abnormal respiratory system physiology	89891	DYNC2I2	ORPHA:474
HP:0002795	Abnormal respiratory system physiology	89891	DYNC2I2	OMIM:615633
HP:0002795	Abnormal respiratory system physiology	7169	TPM2	ORPHA:171436
HP:0002795	Abnormal respiratory system physiology	4703	NEB	ORPHA:171436
HP:0002795	Abnormal respiratory system physiology	10324	KLHL41	ORPHA:171436
HP:0002795	Abnormal respiratory system physiology	10324	KLHL41	OMIM:615731
HP:0002795	Abnormal respiratory system physiology	56203	LMOD3	ORPHA:171436
HP:0002795	Abnormal respiratory system physiology	1073	CFL2	ORPHA:171436
HP:0002795	Abnormal respiratory system physiology	4141	MARS1	OMIM:615486
HP:0002795	Abnormal respiratory system physiology	375790	AGRN	OMIM:615120
HP:0002795	Abnormal respiratory system physiology	4649	MYO9A	OMIM:618198
HP:0002795	Abnormal respiratory system physiology	387787	LIPT2	OMIM:617668
HP:0002795	Abnormal respiratory system physiology	1785	DNM2	OMIM:615368
HP:0002795	Abnormal respiratory system physiology	84466	MEGF10	OMIM:614399
HP:0002795	Abnormal respiratory system physiology	1410	CRYAB	OMIM:613869
HP:0002795	Abnormal respiratory system physiology	55636	CHD7	ORPHA:138
HP:0002795	Abnormal respiratory system physiology	9723	SEMA3E	ORPHA:138
HP:0002795	Abnormal respiratory system physiology	3908	LAMA2	ORPHA:258
HP:0002795	Abnormal respiratory system physiology	6440	SFTPC	OMIM:610913
HP:0002795	Abnormal respiratory system physiology	1185	CLCN6	OMIM:619173
HP:0002795	Abnormal respiratory system physiology	90	ACVR1	OMIM:135100
HP:0002795	Abnormal respiratory system physiology	90	ACVR1	ORPHA:337
HP:0002795	Abnormal respiratory system physiology	2273	FHL1	OMIM:300696
HP:0002795	Abnormal respiratory system physiology	2263	FGFR2	ORPHA:87
HP:0002795	Abnormal respiratory system physiology	2263	FGFR2	ORPHA:207
HP:0002795	Abnormal respiratory system physiology	6023	RMRP	ORPHA:175
HP:0002795	Abnormal respiratory system physiology	23321	TRIM2	OMIM:615490
HP:0002795	Abnormal respiratory system physiology	92579	G6PC3	OMIM:612541
HP:0002795	Abnormal respiratory system physiology	6773	STAT2	OMIM:618886
HP:0002795	Abnormal respiratory system physiology	3717	JAK2	ORPHA:729
HP:0002795	Abnormal respiratory system physiology	93627	TBCK	OMIM:616900
HP:0002795	Abnormal respiratory system physiology	93627	TBCK	ORPHA:488632
HP:0002795	Abnormal respiratory system physiology	55109	AGGF1	ORPHA:90308
HP:0002795	Abnormal respiratory system physiology	5290	PIK3CA	ORPHA:90308
HP:0002795	Abnormal respiratory system physiology	1509	CTSD	OMIM:610127
HP:0002795	Abnormal respiratory system physiology	10558	SPTLC1	OMIM:620285
HP:0002795	Abnormal respiratory system physiology	5191	PEX7	OMIM:215100
HP:0002795	Abnormal respiratory system physiology	5191	PEX7	ORPHA:773
HP:0002795	Abnormal respiratory system physiology	3339	HSPG2	ORPHA:1865
HP:0002795	Abnormal respiratory system physiology	3339	HSPG2	OMIM:224410
HP:0002795	Abnormal respiratory system physiology	3339	HSPG2	ORPHA:800
HP:0002795	Abnormal respiratory system physiology	259232	NALCN	ORPHA:562528
HP:0002795	Abnormal respiratory system physiology	259232	NALCN	OMIM:616266
HP:0002795	Abnormal respiratory system physiology	8802	SUCLG1	OMIM:245400
HP:0002795	Abnormal respiratory system physiology	1281	COL3A1	ORPHA:286
HP:0002795	Abnormal respiratory system physiology	54968	TMEM70	OMIM:614052
HP:0002795	Abnormal respiratory system physiology	88	ACTN2	OMIM:618654
HP:0002795	Abnormal respiratory system physiology	7170	TPM3	OMIM:255310
HP:0002795	Abnormal respiratory system physiology	7170	TPM3	OMIM:609284
HP:0002795	Abnormal respiratory system physiology	246243	RNASEH1	OMIM:616479
HP:0002795	Abnormal respiratory system physiology	388962	BOLA3	OMIM:614299
HP:0002795	Abnormal respiratory system physiology	79583	TMEM231	OMIM:614970
HP:0002795	Abnormal respiratory system physiology	1301	COL11A1	ORPHA:2021
HP:0002795	Abnormal respiratory system physiology	1302	COL11A2	ORPHA:2021
HP:0002795	Abnormal respiratory system physiology	3265	HRAS	OMIM:218040
HP:0002795	Abnormal respiratory system physiology	113278	SLC52A3	OMIM:211530
HP:0002795	Abnormal respiratory system physiology	788	SLC25A20	ORPHA:159
HP:0002795	Abnormal respiratory system physiology	9851	KIAA0753	ORPHA:474
HP:0002795	Abnormal respiratory system physiology	26160	IFT172	ORPHA:474
HP:0002795	Abnormal respiratory system physiology	153241	CEP120	ORPHA:474
HP:0002795	Abnormal respiratory system physiology	153241	CEP120	OMIM:616300
HP:0002795	Abnormal respiratory system physiology	51626	DYNC2LI1	ORPHA:474
HP:0002795	Abnormal respiratory system physiology	9742	IFT140	ORPHA:474
HP:0002795	Abnormal respiratory system physiology	57728	WDR19	ORPHA:474
HP:0002795	Abnormal respiratory system physiology	79809	TTC21B	ORPHA:474
HP:0002795	Abnormal respiratory system physiology	3981	LIG4	ORPHA:235
HP:0002795	Abnormal respiratory system physiology	54888	NSUN2	ORPHA:235
HP:0002795	Abnormal respiratory system physiology	9056	SLC7A7	ORPHA:470
HP:0002795	Abnormal respiratory system physiology	9056	SLC7A7	OMIM:222700
HP:0002795	Abnormal respiratory system physiology	4204	MECP2	OMIM:300673
HP:0002795	Abnormal respiratory system physiology	4204	MECP2	ORPHA:209370
HP:0002795	Abnormal respiratory system physiology	1836	SLC26A2	OMIM:600972
HP:0002795	Abnormal respiratory system physiology	1836	SLC26A2	ORPHA:628
HP:0002795	Abnormal respiratory system physiology	1836	SLC26A2	OMIM:256050
HP:0002795	Abnormal respiratory system physiology	2200	FBN1	OMIM:614185
HP:0002795	Abnormal respiratory system physiology	9453	GGPS1	OMIM:619518
HP:0002795	Abnormal respiratory system physiology	9508	ADAMTS3	ORPHA:2136
HP:0002795	Abnormal respiratory system physiology	147372	CCBE1	ORPHA:2136
HP:0002795	Abnormal respiratory system physiology	79633	FAT4	ORPHA:2136
HP:0002795	Abnormal respiratory system physiology	10290	SPEG	OMIM:615959
HP:0002795	Abnormal respiratory system physiology	10290	SPEG	ORPHA:169186
HP:0002795	Abnormal respiratory system physiology	10056	FARSB	OMIM:613658
HP:0002795	Abnormal respiratory system physiology	1493	CTLA4	ORPHA:900
HP:0002795	Abnormal respiratory system physiology	26191	PTPN22	ORPHA:900
HP:0002795	Abnormal respiratory system physiology	5657	PRTN3	ORPHA:900
HP:0002795	Abnormal respiratory system physiology	3113	HLA-DPA1	ORPHA:900
HP:0002795	Abnormal respiratory system physiology	493856	CISD2	ORPHA:3463
HP:0002795	Abnormal respiratory system physiology	7466	WFS1	ORPHA:3463
HP:0002795	Abnormal respiratory system physiology	7466	WFS1	ORPHA:411590
HP:0002795	Abnormal respiratory system physiology	4089	SMAD4	OMIM:139210
HP:0002795	Abnormal respiratory system physiology	2548	GAA	ORPHA:308552
HP:0002795	Abnormal respiratory system physiology	2548	GAA	OMIM:232300
HP:0002795	Abnormal respiratory system physiology	11231	SEC63	ORPHA:2924
HP:0002795	Abnormal respiratory system physiology	5589	PRKCSH	ORPHA:2924
HP:0002795	Abnormal respiratory system physiology	4041	LRP5	ORPHA:2924
HP:0002795	Abnormal respiratory system physiology	23396	PIP5K1C	OMIM:611369
HP:0002795	Abnormal respiratory system physiology	2316	FLNA	ORPHA:2484
HP:0002795	Abnormal respiratory system physiology	2316	FLNA	OMIM:304120
HP:0002795	Abnormal respiratory system physiology	3662	IRF4	ORPHA:3452
HP:0002795	Abnormal respiratory system physiology	7443	VRK1	OMIM:607596
HP:0002795	Abnormal respiratory system physiology	26154	ABCA12	ORPHA:457
HP:0002795	Abnormal respiratory system physiology	4000	LMNA	ORPHA:157973
HP:0002795	Abnormal respiratory system physiology	2318	FLNC	ORPHA:171445
HP:0002795	Abnormal respiratory system physiology	2318	FLNC	OMIM:609524
HP:0002795	Abnormal respiratory system physiology	197258	FCSK	OMIM:618324
HP:0002795	Abnormal respiratory system physiology	56983	POGLUT1	OMIM:617232
HP:0002795	Abnormal respiratory system physiology	125988	MICOS13	OMIM:618329
HP:0002795	Abnormal respiratory system physiology	6572	SLC18A3	OMIM:617239
HP:0002795	Abnormal respiratory system physiology	6572	SLC18A3	ORPHA:994
HP:0002795	Abnormal respiratory system physiology	7317	UBA1	ORPHA:1145
HP:0002795	Abnormal respiratory system physiology	7317	UBA1	OMIM:301830
HP:0002795	Abnormal respiratory system physiology	4052	LTBP1	ORPHA:90349
HP:0002795	Abnormal respiratory system physiology	30008	EFEMP2	ORPHA:90349
HP:0002795	Abnormal respiratory system physiology	10516	FBLN5	ORPHA:90349
HP:0002795	Abnormal respiratory system physiology	2744	GLS	OMIM:618328
HP:0002795	Abnormal respiratory system physiology	81846	SBF2	ORPHA:99956
HP:0002795	Abnormal respiratory system physiology	79645	CLXN	OMIM:620642
HP:0002795	Abnormal respiratory system physiology	2260	FGFR1	ORPHA:2117
HP:0002795	Abnormal respiratory system physiology	10262	SF3B4	ORPHA:245
HP:0002795	Abnormal respiratory system physiology	4615	MYD88	ORPHA:33226
HP:0002795	Abnormal respiratory system physiology	27247	NFU1	OMIM:605711
HP:0002795	Abnormal respiratory system physiology	56652	TWNK	OMIM:607459
HP:0002795	Abnormal respiratory system physiology	56652	TWNK	ORPHA:254892
HP:0002795	Abnormal respiratory system physiology	5428	POLG	OMIM:607459
HP:0002795	Abnormal respiratory system physiology	5428	POLG	ORPHA:254892
HP:0002795	Abnormal respiratory system physiology	345643	MCIDAS	OMIM:618695
HP:0002795	Abnormal respiratory system physiology	6576	SLC25A1	OMIM:615182
HP:0002795	Abnormal respiratory system physiology	10568	SLC34A2	ORPHA:60025
HP:0002795	Abnormal respiratory system physiology	51117	COQ4	OMIM:616276
HP:0002795	Abnormal respiratory system physiology	57017	COQ9	OMIM:614654
HP:0002795	Abnormal respiratory system physiology	10801	SEPTIN9	ORPHA:2901
HP:0002795	Abnormal respiratory system physiology	5813	PURA	OMIM:616158
HP:0002795	Abnormal respiratory system physiology	115948	ODAD3	OMIM:616037
HP:0002795	Abnormal respiratory system physiology	58497	PRUNE1	ORPHA:544469
HP:0002795	Abnormal respiratory system physiology	5081	PAX7	OMIM:618578
HP:0002795	Abnormal respiratory system physiology	826	CAPNS1	OMIM:620777
HP:0002795	Abnormal respiratory system physiology	79628	SH3TC2	ORPHA:99949
HP:0002795	Abnormal respiratory system physiology	55670	PEX26	ORPHA:912
HP:0002795	Abnormal respiratory system physiology	5824	PEX19	ORPHA:912
HP:0002795	Abnormal respiratory system physiology	5828	PEX2	ORPHA:912
HP:0002795	Abnormal respiratory system physiology	8504	PEX3	ORPHA:912
HP:0002795	Abnormal respiratory system physiology	8799	PEX11B	ORPHA:912
HP:0002795	Abnormal respiratory system physiology	9409	PEX16	ORPHA:912
HP:0002795	Abnormal respiratory system physiology	5190	PEX6	ORPHA:912
HP:0002795	Abnormal respiratory system physiology	5830	PEX5	ORPHA:912
HP:0002795	Abnormal respiratory system physiology	5189	PEX1	ORPHA:912
HP:0002795	Abnormal respiratory system physiology	5193	PEX12	ORPHA:912
HP:0002795	Abnormal respiratory system physiology	5194	PEX13	ORPHA:912
HP:0002795	Abnormal respiratory system physiology	5195	PEX14	ORPHA:912
HP:0002795	Abnormal respiratory system physiology	5192	PEX10	ORPHA:912
HP:0002795	Abnormal respiratory system physiology	389827	MYMK	OMIM:254940
HP:0002795	Abnormal respiratory system physiology	59341	TRPV4	OMIM:181405
HP:0002795	Abnormal respiratory system physiology	59341	TRPV4	OMIM:156530
HP:0002795	Abnormal respiratory system physiology	84181	CHD6	ORPHA:2108
HP:0002795	Abnormal respiratory system physiology	2737	GLI3	ORPHA:672
HP:0002795	Abnormal respiratory system physiology	274	BIN1	ORPHA:169186
HP:0002795	Abnormal respiratory system physiology	7273	TTN	ORPHA:169186
HP:0002795	Abnormal respiratory system physiology	291	SLC25A4	ORPHA:254892
HP:0002795	Abnormal respiratory system physiology	11232	POLG2	ORPHA:254892
HP:0002795	Abnormal respiratory system physiology	50484	RRM2B	ORPHA:254892
HP:0002795	Abnormal respiratory system physiology	57190	SELENON	ORPHA:97244
HP:0002795	Abnormal respiratory system physiology	91949	COG7	OMIM:608779
HP:0002795	Abnormal respiratory system physiology	1291	COL6A1	OMIM:254090
HP:0002795	Abnormal respiratory system physiology	5351	PLOD1	OMIM:225400
HP:0002795	Abnormal respiratory system physiology	2879	GPX4	ORPHA:93317
HP:0002795	Abnormal respiratory system physiology	7167	TPI1	OMIM:615512
HP:0002795	Abnormal respiratory system physiology	100151683	RNU4ATAC	OMIM:210710
HP:0002795	Abnormal respiratory system physiology	1305	COL13A1	OMIM:616720
HP:0002795	Abnormal respiratory system physiology	1798	DPAGT1	OMIM:608093
HP:0002795	Abnormal respiratory system physiology	203547	VMA21	OMIM:310440
HP:0002795	Abnormal respiratory system physiology	10102	TSFM	OMIM:610505
HP:0002795	Abnormal respiratory system physiology	4173	MCM4	OMIM:609981
HP:0002795	Abnormal respiratory system physiology	1908	EDN3	ORPHA:661
HP:0002795	Abnormal respiratory system physiology	2668	GDNF	ORPHA:661
HP:0002795	Abnormal respiratory system physiology	627	BDNF	ORPHA:661
HP:0002795	Abnormal respiratory system physiology	10660	LBX1	ORPHA:661
HP:0002795	Abnormal respiratory system physiology	283446	MYO1H	ORPHA:661
HP:0002795	Abnormal respiratory system physiology	8929	PHOX2B	ORPHA:661
HP:0002795	Abnormal respiratory system physiology	7707	ZNF148	OMIM:617260
HP:0002795	Abnormal respiratory system physiology	3106	HLA-B	ORPHA:29207
HP:0002795	Abnormal respiratory system physiology	26275	HIBCH	ORPHA:88639
HP:0002795	Abnormal respiratory system physiology	23395	LARS2	OMIM:617021
HP:0002795	Abnormal respiratory system physiology	23114	NFASC	OMIM:618356
HP:0002795	Abnormal respiratory system physiology	92667	MGME1	OMIM:615084
HP:0002795	Abnormal respiratory system physiology	63895	PIEZO2	OMIM:617146
HP:0002795	Abnormal respiratory system physiology	5660	PSAP	ORPHA:139406
HP:0002795	Abnormal respiratory system physiology	5660	PSAP	OMIM:611722
HP:0002795	Abnormal respiratory system physiology	91869	RFT1	OMIM:612015
HP:0002795	Abnormal respiratory system physiology	51010	EXOSC3	OMIM:614678
HP:0002795	Abnormal respiratory system physiology	1959	EGR2	OMIM:605253
HP:0002795	Abnormal respiratory system physiology	3930	LBR	ORPHA:779
HP:0002795	Abnormal respiratory system physiology	10073	SNUPN	OMIM:620793
HP:0002795	Abnormal respiratory system physiology	4952	OCRL	ORPHA:534
HP:0002795	Abnormal respiratory system physiology	79147	FKRP	ORPHA:370968
HP:0002795	Abnormal respiratory system physiology	79147	FKRP	OMIM:613153
HP:0002795	Abnormal respiratory system physiology	29954	POMT2	ORPHA:370968
HP:0002795	Abnormal respiratory system physiology	29954	POMT2	OMIM:613156
HP:0002795	Abnormal respiratory system physiology	9215	LARGE1	ORPHA:370968
HP:0002795	Abnormal respiratory system physiology	10585	POMT1	ORPHA:370968
HP:0002795	Abnormal respiratory system physiology	427	ASAH1	ORPHA:333
HP:0002795	Abnormal respiratory system physiology	427	ASAH1	OMIM:228000
HP:0002795	Abnormal respiratory system physiology	7084	TK2	ORPHA:254875
HP:0002795	Abnormal respiratory system physiology	4704	NDUFA9	OMIM:618247
HP:0002795	Abnormal respiratory system physiology	4705	NDUFA10	OMIM:618243
HP:0002795	Abnormal respiratory system physiology	11274	USP18	OMIM:617397
HP:0002795	Abnormal respiratory system physiology	134701	RIPPLY2	ORPHA:2311
HP:0002795	Abnormal respiratory system physiology	10683	DLL3	ORPHA:2311
HP:0002795	Abnormal respiratory system physiology	3955	LFNG	ORPHA:2311
HP:0002795	Abnormal respiratory system physiology	84667	HES7	ORPHA:2311
HP:0002795	Abnormal respiratory system physiology	145873	MESP2	ORPHA:2311
HP:0002795	Abnormal respiratory system physiology	1277	COL1A1	OMIM:166210
HP:0002795	Abnormal respiratory system physiology	1277	COL1A1	ORPHA:1310
HP:0002795	Abnormal respiratory system physiology	1278	COL1A2	OMIM:166210
HP:0002795	Abnormal respiratory system physiology	2077	ERF	ORPHA:207
HP:0002795	Abnormal respiratory system physiology	6606	SMN1	OMIM:253300
HP:0002795	Abnormal respiratory system physiology	55750	AGK	OMIM:212350
HP:0002795	Abnormal respiratory system physiology	2717	GLA	ORPHA:324
HP:0002795	Abnormal respiratory system physiology	6329	SCN4A	ORPHA:682
HP:0002795	Abnormal respiratory system physiology	6329	SCN4A	OMIM:620351
HP:0002795	Abnormal respiratory system physiology	63931	MRPS14	OMIM:618378
HP:0002795	Abnormal respiratory system physiology	3977	LIFR	OMIM:601559
HP:0002795	Abnormal respiratory system physiology	5250	SLC25A3	OMIM:610773
HP:0002795	Abnormal respiratory system physiology	9531	BAG3	OMIM:612954
HP:0002795	Abnormal respiratory system physiology	27130	INVS	OMIM:602088
HP:0002795	Abnormal respiratory system physiology	1756	DMD	ORPHA:98896
HP:0002795	Abnormal respiratory system physiology	8425	LTBP4	ORPHA:98896
HP:0002795	Abnormal respiratory system physiology	59336	PRDM13	OMIM:619909
HP:0002795	Abnormal respiratory system physiology	55605	KIF21A	ORPHA:994
HP:0002795	Abnormal respiratory system physiology	4927	NUP88	ORPHA:994
HP:0002795	Abnormal respiratory system physiology	7846	TUBA1A	ORPHA:994
HP:0002795	Abnormal respiratory system physiology	4654	MYOD1	ORPHA:994
HP:0002795	Abnormal respiratory system physiology	4654	MYOD1	OMIM:618975
HP:0002795	Abnormal respiratory system physiology	54551	MAGEL2	ORPHA:994
HP:0002795	Abnormal respiratory system physiology	285489	DOK7	ORPHA:994
HP:0002795	Abnormal respiratory system physiology	11340	EXOSC8	OMIM:616081
HP:0002795	Abnormal respiratory system physiology	11212	PLPBP	OMIM:617290
HP:0002795	Abnormal respiratory system physiology	11019	LIAS	OMIM:614462
HP:0002795	Abnormal respiratory system physiology	4567	MT-TL1	ORPHA:324525
HP:0002795	Abnormal respiratory system physiology	29957	SLC25A24	OMIM:612289
HP:0002795	Abnormal respiratory system physiology	3032	HADHB	ORPHA:746
HP:0002795	Abnormal respiratory system physiology	3030	HADHA	ORPHA:746
HP:0002795	Abnormal respiratory system physiology	3030	HADHA	OMIM:609015
HP:0002795	Abnormal respiratory system physiology	2218	FKTN	OMIM:253800
HP:0002795	Abnormal respiratory system physiology	5352	PLOD2	ORPHA:2771
HP:0002795	Abnormal respiratory system physiology	60681	FKBP10	ORPHA:2771
HP:0002795	Abnormal respiratory system physiology	29926	GMPPA	ORPHA:869
HP:0002795	Abnormal respiratory system physiology	60684	TRAPPC11	ORPHA:869
HP:0002795	Abnormal respiratory system physiology	8086	AAAS	ORPHA:869
HP:0002795	Abnormal respiratory system physiology	246329	STAC3	ORPHA:168572
HP:0002795	Abnormal respiratory system physiology	6050	RNH1	OMIM:620461
HP:0002795	Abnormal respiratory system physiology	3181	HNRNPA2B1	OMIM:620460
HP:0002795	Abnormal respiratory system physiology	84172	POLR1B	ORPHA:861
HP:0002795	Abnormal respiratory system physiology	9533	POLR1C	ORPHA:861
HP:0002795	Abnormal respiratory system physiology	51082	POLR1D	ORPHA:861
HP:0002795	Abnormal respiratory system physiology	6949	TCOF1	ORPHA:861
HP:0002795	Abnormal respiratory system physiology	3636	INPPL1	OMIM:258480
HP:0002795	Abnormal respiratory system physiology	3636	INPPL1	ORPHA:2746
HP:0002795	Abnormal respiratory system physiology	374354	NHLRC2	OMIM:618278
HP:0002795	Abnormal respiratory system physiology	9373	PLAA	ORPHA:521426
HP:0002795	Abnormal respiratory system physiology	9373	PLAA	OMIM:617527
HP:0002795	Abnormal respiratory system physiology	8292	COLQ	ORPHA:98915
HP:0002795	Abnormal respiratory system physiology	8292	COLQ	OMIM:603034
HP:0002795	Abnormal respiratory system physiology	3913	LAMB2	ORPHA:98915
HP:0002795	Abnormal respiratory system physiology	4604	MYBPC1	OMIM:614915
HP:0002795	Abnormal respiratory system physiology	1376	CPT2	OMIM:608836
HP:0002795	Abnormal respiratory system physiology	5264	PHYH	ORPHA:773
HP:0002795	Abnormal respiratory system physiology	126792	B3GALT6	ORPHA:536467
HP:0002795	Abnormal respiratory system physiology	126792	B3GALT6	OMIM:615349
HP:0002795	Abnormal respiratory system physiology	6904	TBCD	OMIM:617193
HP:0002795	Abnormal respiratory system physiology	10577	NPC2	OMIM:607625
HP:0002795	Abnormal respiratory system physiology	210	ALAD	ORPHA:100924
HP:0002795	Abnormal respiratory system physiology	4938	OAS1	OMIM:618042
HP:0002795	Abnormal respiratory system physiology	440	ASNS	OMIM:615574
HP:0002795	Abnormal respiratory system physiology	200205	IBA57	OMIM:615330
HP:0002795	Abnormal respiratory system physiology	5557	PRIM1	OMIM:620005
HP:0002795	Abnormal respiratory system physiology	23529	CLCF1	ORPHA:1545
HP:0002795	Abnormal respiratory system physiology	9244	CRLF1	ORPHA:1545
HP:0002795	Abnormal respiratory system physiology	5376	PMP22	ORPHA:640
HP:0002795	Abnormal respiratory system physiology	54936	ADPRS	OMIM:618170
HP:0002795	Abnormal respiratory system physiology	56922	MCCC1	ORPHA:6
HP:0002795	Abnormal respiratory system physiology	64087	MCCC2	ORPHA:6
HP:0002795	Abnormal respiratory system physiology	1439	CSF2RB	OMIM:614370
HP:0002795	Abnormal respiratory system physiology	80704	SLC19A3	ORPHA:263410
HP:0002795	Abnormal respiratory system physiology	5087	PBX1	OMIM:617641
HP:0002795	Abnormal respiratory system physiology	51763	INPP5K	OMIM:617404
HP:0002795	Abnormal respiratory system physiology	1140	CHRNB1	OMIM:616314
HP:0002795	Abnormal respiratory system physiology	10535	RNASEH2A	OMIM:610333
HP:0002795	Abnormal respiratory system physiology	1371	CPOX	ORPHA:79273
HP:0002795	Abnormal respiratory system physiology	23224	SYNE2	OMIM:612999
HP:0002795	Abnormal respiratory system physiology	54938	SARS2	OMIM:613845
HP:0002795	Abnormal respiratory system physiology	3145	HMBS	ORPHA:79276
HP:0002795	Abnormal respiratory system physiology	3156	HMGCR	OMIM:620375
HP:0002795	Abnormal respiratory system physiology	1639	DCTN1	OMIM:168605
HP:0002795	Abnormal respiratory system physiology	6786	STIM1	OMIM:160565
HP:0002795	Abnormal respiratory system physiology	90952	ESAM	OMIM:620371
HP:0002795	Abnormal respiratory system physiology	168667	BMPER	OMIM:608022
HP:0002795	Abnormal respiratory system physiology	51343	FZR1	OMIM:620145
HP:0002795	Abnormal respiratory system physiology	4538	MT-ND4	ORPHA:255210
HP:0002795	Abnormal respiratory system physiology	4578	MT-TW	ORPHA:255210
HP:0002795	Abnormal respiratory system physiology	4577	MT-TV	ORPHA:255210
HP:0002795	Abnormal respiratory system physiology	4508	MT-ATP6	ORPHA:255210
HP:0002795	Abnormal respiratory system physiology	4540	MT-ND5	ORPHA:255210
HP:0002795	Abnormal respiratory system physiology	4541	MT-ND6	ORPHA:255210
HP:0002795	Abnormal respiratory system physiology	4566	MT-TK	ORPHA:255210
HP:0002795	Abnormal respiratory system physiology	4566	MT-TK	ORPHA:1349
HP:0002795	Abnormal respiratory system physiology	1824	DSC2	OMIM:610476
HP:0002795	Abnormal respiratory system physiology	2022	ENG	OMIM:187300
HP:0002795	Abnormal respiratory system physiology	57158	JPH2	OMIM:613873
HP:0002795	Abnormal respiratory system physiology	54790	TET2	ORPHA:98826
HP:0002795	Abnormal respiratory system physiology	112476	PRRT2	ORPHA:98810
HP:0002795	Abnormal respiratory system physiology	25953	PNKD	ORPHA:98810
HP:0002795	Abnormal respiratory system physiology	1621	DBH	ORPHA:230
HP:0002795	Abnormal respiratory system physiology	4607	MYBPC3	OMIM:115197
HP:0002795	Abnormal respiratory system physiology	3043	HBB	ORPHA:231214
HP:0002795	Abnormal respiratory system physiology	3043	HBB	ORPHA:231226
HP:0002795	Abnormal respiratory system physiology	1763	DNA2	OMIM:615156
HP:0002795	Abnormal respiratory system physiology	51604	PIGT	OMIM:615399
HP:0002795	Abnormal respiratory system physiology	7139	TNNT2	OMIM:115195
HP:0002795	Abnormal respiratory system physiology	7139	TNNT2	ORPHA:75249
HP:0002795	Abnormal respiratory system physiology	7454	WAS	ORPHA:906
HP:0002795	Abnormal respiratory system physiology	7456	WIPF1	ORPHA:906
HP:0002795	Abnormal respiratory system physiology	2203	FBP1	ORPHA:348
HP:0002795	Abnormal respiratory system physiology	2203	FBP1	OMIM:229700
HP:0002795	Abnormal respiratory system physiology	23137	SMC5	OMIM:620185
HP:0002795	Abnormal respiratory system physiology	3815	KIT	ORPHA:79455
HP:0002795	Abnormal respiratory system physiology	2778	GNAS	ORPHA:79443
HP:0002795	Abnormal respiratory system physiology	2778	GNAS	ORPHA:79444
HP:0002795	Abnormal respiratory system physiology	2778	GNAS	ORPHA:94089
HP:0002795	Abnormal respiratory system physiology	23479	ISCU	OMIM:255125
HP:0002795	Abnormal respiratory system physiology	567	B2M	OMIM:620659
HP:0002795	Abnormal respiratory system physiology	335	APOA1	OMIM:620657
HP:0002795	Abnormal respiratory system physiology	4878	NPPA	OMIM:615745
HP:0002795	Abnormal respiratory system physiology	4878	NPPA	ORPHA:334
HP:0002795	Abnormal respiratory system physiology	4878	NPPA	ORPHA:1344
HP:0002795	Abnormal respiratory system physiology	94	ACVRL1	OMIM:600376
HP:0002795	Abnormal respiratory system physiology	6775	STAT4	ORPHA:93552
HP:0002795	Abnormal respiratory system physiology	6696	SPP1	ORPHA:93552
HP:0002795	Abnormal respiratory system physiology	6303	SAT1	ORPHA:93552
HP:0002795	Abnormal respiratory system physiology	3654	IRAK1	ORPHA:93552
HP:0002795	Abnormal respiratory system physiology	8675	STX16	ORPHA:94089
HP:0002795	Abnormal respiratory system physiology	170302	ARX	OMIM:308350
HP:0002795	Abnormal respiratory system physiology	10049	DNAJB6	OMIM:603511
HP:0002795	Abnormal respiratory system physiology	57104	PNPLA2	ORPHA:565612
HP:0002795	Abnormal respiratory system physiology	26277	TINF2	OMIM:127550
HP:0002795	Abnormal respiratory system physiology	5978	REST	ORPHA:654
HP:0002795	Abnormal respiratory system physiology	129563	DIS3L2	ORPHA:654
HP:0002795	Abnormal respiratory system physiology	675	BRCA2	ORPHA:654
HP:0002795	Abnormal respiratory system physiology	9319	TRIP13	ORPHA:654
HP:0002795	Abnormal respiratory system physiology	10155	TRIM28	ORPHA:654
HP:0002795	Abnormal respiratory system physiology	11281	POU6F2	ORPHA:654
HP:0002795	Abnormal respiratory system physiology	283120	H19	ORPHA:654
HP:0002795	Abnormal respiratory system physiology	3949	LDLR	ORPHA:391665
HP:0002795	Abnormal respiratory system physiology	255738	PCSK9	ORPHA:391665
HP:0002795	Abnormal respiratory system physiology	26119	LDLRAP1	ORPHA:391665
HP:0002795	Abnormal respiratory system physiology	338	APOB	ORPHA:391665
HP:0002795	Abnormal respiratory system physiology	64240	ABCG5	ORPHA:391665
HP:0002795	Abnormal respiratory system physiology	64241	ABCG8	ORPHA:391665
HP:0002795	Abnormal respiratory system physiology	3753	KCNE1	ORPHA:334
HP:0002795	Abnormal respiratory system physiology	2702	GJA5	ORPHA:334
HP:0002795	Abnormal respiratory system physiology	3760	KCNJ3	ORPHA:334
HP:0002795	Abnormal respiratory system physiology	3762	KCNJ5	ORPHA:334
HP:0002795	Abnormal respiratory system physiology	4635	MYL4	ORPHA:334
HP:0002795	Abnormal respiratory system physiology	10060	ABCC9	ORPHA:334
HP:0002795	Abnormal respiratory system physiology	137814	NKX2-6	ORPHA:334
HP:0002795	Abnormal respiratory system physiology	55800	SCN3B	ORPHA:334
HP:0002795	Abnormal respiratory system physiology	9992	KCNE2	ORPHA:334
HP:0002795	Abnormal respiratory system physiology	5308	PITX2	ORPHA:334
HP:0002795	Abnormal respiratory system physiology	6327	SCN2B	ORPHA:334
HP:0002795	Abnormal respiratory system physiology	140628	GATA5	ORPHA:334
HP:0002795	Abnormal respiratory system physiology	3759	KCNJ2	ORPHA:334
HP:0002795	Abnormal respiratory system physiology	3784	KCNQ1	ORPHA:334
HP:0002795	Abnormal respiratory system physiology	6324	SCN1B	ORPHA:334
HP:0002795	Abnormal respiratory system physiology	6324	SCN1B	ORPHA:871
HP:0002795	Abnormal respiratory system physiology	6331	SCN5A	ORPHA:334
HP:0002795	Abnormal respiratory system physiology	6331	SCN5A	ORPHA:1344
HP:0002795	Abnormal respiratory system physiology	6331	SCN5A	OMIM:113900
HP:0002795	Abnormal respiratory system physiology	6331	SCN5A	ORPHA:871
HP:0002795	Abnormal respiratory system physiology	6330	SCN4B	ORPHA:334
HP:0002795	Abnormal respiratory system physiology	3741	KCNA5	ORPHA:334
HP:0002795	Abnormal respiratory system physiology	9631	NUP155	ORPHA:334
HP:0002795	Abnormal respiratory system physiology	5318	PKP2	OMIM:609040
HP:0002795	Abnormal respiratory system physiology	212	ALAS2	ORPHA:75563
HP:0002795	Abnormal respiratory system physiology	2006	ELN	ORPHA:3193
HP:0002795	Abnormal respiratory system physiology	2006	ELN	OMIM:123700
HP:0002795	Abnormal respiratory system physiology	112812	FDX2	OMIM:251900
HP:0002795	Abnormal respiratory system physiology	9496	TBX4	ORPHA:261279
HP:0002795	Abnormal respiratory system physiology	546	ATRX	ORPHA:231401
HP:0002795	Abnormal respiratory system physiology	7134	TNNC1	OMIM:613243
HP:0002795	Abnormal respiratory system physiology	54795	TRPM4	ORPHA:871
HP:0002795	Abnormal respiratory system physiology	11222	MRPL3	OMIM:614582
HP:0002795	Abnormal respiratory system physiology	7137	TNNI3	ORPHA:75249
HP:0002795	Abnormal respiratory system physiology	10112	KIF20A	ORPHA:75249
HP:0002795	Abnormal respiratory system physiology	57570	TRMT5	OMIM:616539
HP:0002795	Abnormal respiratory system physiology	54800	KLHL24	OMIM:620236
HP:0002795	Abnormal respiratory system physiology	50485	SMARCAL1	OMIM:242900
HP:0002795	Abnormal respiratory system physiology	8815	BANF1	OMIM:614008
HP:0002795	Abnormal respiratory system physiology	5236	PGM1	OMIM:614921
HP:0002795	Abnormal respiratory system physiology	3593	IL12B	ORPHA:3287
HP:0002795	Abnormal respiratory system physiology	6945	MLX	ORPHA:3287
HP:0002795	Abnormal respiratory system physiology	25913	POT1	OMIM:620367
HP:0002795	Abnormal respiratory system physiology	51778	MYOZ2	OMIM:613838
HP:0002795	Abnormal respiratory system physiology	857	CAV1	OMIM:615343
HP:0002795	Abnormal respiratory system physiology	857	CAV1	ORPHA:220393
HP:0002795	Abnormal respiratory system physiology	1235	CCR6	ORPHA:220393
HP:0002795	Abnormal respiratory system physiology	1490	CCN2	ORPHA:220393
HP:0002795	Abnormal respiratory system physiology	3663	IRF5	ORPHA:220393
HP:0002795	Abnormal respiratory system physiology	1829	DSG2	OMIM:612877
HP:0002795	Abnormal respiratory system physiology	399	RHOH	OMIM:618307
HP:0002795	Abnormal respiratory system physiology	6890	TAP1	OMIM:604571
HP:0002795	Abnormal respiratory system physiology	137682	NDUFAF6	OMIM:618913
HP:0002795	Abnormal respiratory system physiology	23545	ATP6V0A2	ORPHA:357074
HP:0002795	Abnormal respiratory system physiology	23545	ATP6V0A2	ORPHA:2834
HP:0002795	Abnormal respiratory system physiology	523	ATP6V1A	ORPHA:357074
HP:0002795	Abnormal respiratory system physiology	529	ATP6V1E1	ORPHA:357074
HP:0002795	Abnormal respiratory system physiology	5832	ALDH18A1	ORPHA:90348
HP:0002795	Abnormal respiratory system physiology	92345	NAF1	OMIM:620365
HP:0002795	Abnormal respiratory system physiology	56980	PRDM10	ORPHA:122
HP:0002795	Abnormal respiratory system physiology	201163	FLCN	ORPHA:122
HP:0002795	Abnormal respiratory system physiology	5566	PRKACA	ORPHA:289
HP:0002795	Abnormal respiratory system physiology	5567	PRKACB	ORPHA:289
HP:0002795	Abnormal respiratory system physiology	2735	GLI1	ORPHA:289
HP:0002795	Abnormal respiratory system physiology	2121	EVC	ORPHA:289
HP:0002795	Abnormal respiratory system physiology	132884	EVC2	ORPHA:289
HP:0002795	Abnormal respiratory system physiology	4702	NDUFA8	OMIM:619272
HP:0002795	Abnormal respiratory system physiology	4594	MMUT	ORPHA:289916
HP:0002795	Abnormal respiratory system physiology	4594	MMUT	ORPHA:79312
HP:0002795	Abnormal respiratory system physiology	4594	MMUT	OMIM:251000
HP:0002795	Abnormal respiratory system physiology	55503	TRPV6	OMIM:618188
HP:0002795	Abnormal respiratory system physiology	201595	STT3B	OMIM:615597
HP:0002795	Abnormal respiratory system physiology	201595	STT3B	ORPHA:370924
HP:0002795	Abnormal respiratory system physiology	10559	SLC35A1	ORPHA:238459
HP:0002795	Abnormal respiratory system physiology	2050	EPHB4	OMIM:617300
HP:0002795	Abnormal respiratory system physiology	4137	MAPT	ORPHA:240085
HP:0002795	Abnormal respiratory system physiology	4137	MAPT	ORPHA:240103
HP:0002795	Abnormal respiratory system physiology	1896	EDA	OMIM:305100
HP:0002795	Abnormal respiratory system physiology	4509	MT-ATP8	ORPHA:254913
HP:0002795	Abnormal respiratory system physiology	514	ATP5F1E	ORPHA:254913
HP:0002795	Abnormal respiratory system physiology	513	ATP5F1D	ORPHA:254913
HP:0002795	Abnormal respiratory system physiology	84833	ATP5MK	ORPHA:254913
HP:0002795	Abnormal respiratory system physiology	91647	ATPAF2	ORPHA:254913
HP:0002795	Abnormal respiratory system physiology	150094	SIK1	OMIM:616341
HP:0002795	Abnormal respiratory system physiology	79087	ALG12	OMIM:607143
HP:0002795	Abnormal respiratory system physiology	23414	ZFPM2	ORPHA:2140
HP:0002795	Abnormal respiratory system physiology	6389	SDHA	OMIM:613642
HP:0002795	Abnormal respiratory system physiology	1906	EDN1	ORPHA:137888
HP:0002795	Abnormal respiratory system physiology	6234	RPS28	OMIM:606164
HP:0002795	Abnormal respiratory system physiology	55768	NGLY1	OMIM:615273
HP:0002795	Abnormal respiratory system physiology	51660	MPC1	OMIM:614741
HP:0002795	Abnormal respiratory system physiology	4613	MYCN	OMIM:620748
HP:0002795	Abnormal respiratory system physiology	4613	MYCN	ORPHA:635
HP:0002795	Abnormal respiratory system physiology	8239	USP9X	ORPHA:480880
HP:0002795	Abnormal respiratory system physiology	8239	USP9X	OMIM:300968
HP:0002795	Abnormal respiratory system physiology	166785	MMAA	OMIM:251100
HP:0002795	Abnormal respiratory system physiology	4247	MGAT2	ORPHA:79329
HP:0002795	Abnormal respiratory system physiology	9321	TRIP11	OMIM:184260
HP:0002795	Abnormal respiratory system physiology	9321	TRIP11	ORPHA:166272
HP:0002795	Abnormal respiratory system physiology	51098	IFT52	OMIM:617102
HP:0002795	Abnormal respiratory system physiology	6231	RPS26	OMIM:613309
HP:0002795	Abnormal respiratory system physiology	5373	PMM2	ORPHA:79318
HP:0002795	Abnormal respiratory system physiology	8813	DPM1	OMIM:608799
HP:0002795	Abnormal respiratory system physiology	22906	TRAK1	OMIM:618201
HP:0002795	Abnormal respiratory system physiology	9147	NEMF	OMIM:619099
HP:0002795	Abnormal respiratory system physiology	50943	FOXP3	ORPHA:37042
HP:0002795	Abnormal respiratory system physiology	1188	CLCNKB	ORPHA:358
HP:0002795	Abnormal respiratory system physiology	6559	SLC12A3	ORPHA:358
HP:0002795	Abnormal respiratory system physiology	1317	SLC31A1	OMIM:620306
HP:0002795	Abnormal respiratory system physiology	5396	PRRX1	OMIM:202650
HP:0002795	Abnormal respiratory system physiology	5396	PRRX1	ORPHA:990
HP:0002795	Abnormal respiratory system physiology	112	ADCY6	ORPHA:2680
HP:0002795	Abnormal respiratory system physiology	163175	LGI4	ORPHA:2680
HP:0002795	Abnormal respiratory system physiology	5649	RELN	ORPHA:89844
HP:0002795	Abnormal respiratory system physiology	10300	KATNB1	ORPHA:89844
HP:0002795	Abnormal respiratory system physiology	54820	NDE1	ORPHA:89844
HP:0002795	Abnormal respiratory system physiology	10229	COQ7	OMIM:616733
HP:0002795	Abnormal respiratory system physiology	8320	EOMES	ORPHA:171703
HP:0002795	Abnormal respiratory system physiology	11093	ADAMTS13	OMIM:274150
HP:0002795	Abnormal respiratory system physiology	3736	KCNA1	ORPHA:37612
HP:0002795	Abnormal respiratory system physiology	3417	IDH1	ORPHA:99646
HP:0002795	Abnormal respiratory system physiology	7547	ZIC3	OMIM:306955
HP:0002795	Abnormal respiratory system physiology	7019	TFAM	OMIM:617156
HP:0002795	Abnormal respiratory system physiology	22827	PUF60	ORPHA:508488
HP:0002795	Abnormal respiratory system physiology	6638	SNRPN	ORPHA:177907
HP:0002795	Abnormal respiratory system physiology	3868	KRT16	ORPHA:2309
HP:0002795	Abnormal respiratory system physiology	3872	KRT17	ORPHA:2309
HP:0002795	Abnormal respiratory system physiology	3853	KRT6A	ORPHA:2309
HP:0002795	Abnormal respiratory system physiology	3854	KRT6B	ORPHA:2309
HP:0002795	Abnormal respiratory system physiology	9343	EFTUD2	OMIM:610536
HP:0002795	Abnormal respiratory system physiology	26040	SETBP1	ORPHA:798
HP:0002795	Abnormal respiratory system physiology	326625	MMAB	OMIM:251110
HP:0002795	Abnormal respiratory system physiology	5015	OTX2	ORPHA:990
HP:0002795	Abnormal respiratory system physiology	55975	KLHL7	OMIM:617055
HP:0002795	Abnormal respiratory system physiology	368	ABCC6	ORPHA:51608
HP:0002795	Abnormal respiratory system physiology	10382	TUBB4A	ORPHA:98805
HP:0002795	Abnormal respiratory system physiology	56270	WDR45B	OMIM:617977
HP:0002795	Abnormal respiratory system physiology	526	ATP6V1B2	ORPHA:79500
HP:0002795	Abnormal respiratory system physiology	57465	TBC1D24	ORPHA:79500
HP:0002795	Abnormal respiratory system physiology	3557	IL1RN	OMIM:612852
HP:0002795	Abnormal respiratory system physiology	6748	SSR4	OMIM:300934
HP:0002795	Abnormal respiratory system physiology	129285	PPP1R21	OMIM:619383
HP:0002795	Abnormal respiratory system physiology	23040	MYT1L	ORPHA:647799
HP:0002795	Abnormal respiratory system physiology	35	ACADS	ORPHA:26792
HP:0002795	Abnormal respiratory system physiology	11342	RNF13	ORPHA:544503
HP:0002795	Abnormal respiratory system physiology	2110	ETFDH	OMIM:231680
HP:0002795	Abnormal respiratory system physiology	2108	ETFA	OMIM:231680
HP:0002795	Abnormal respiratory system physiology	2109	ETFB	OMIM:231680
HP:0002795	Abnormal respiratory system physiology	238	ALK	ORPHA:635
HP:0002795	Abnormal respiratory system physiology	389421	LIN28B	ORPHA:635
HP:0002795	Abnormal respiratory system physiology	4004	LMO1	ORPHA:635
HP:0002795	Abnormal respiratory system physiology	57531	HACE1	ORPHA:635
HP:0002795	Abnormal respiratory system physiology	6584	SLC22A5	OMIM:212140
HP:0002795	Abnormal respiratory system physiology	2811	GP1BA	ORPHA:274
HP:0002795	Abnormal respiratory system physiology	2812	GP1BB	ORPHA:274
HP:0002795	Abnormal respiratory system physiology	2812	GP1BB	ORPHA:567
HP:0002795	Abnormal respiratory system physiology	2815	GP9	ORPHA:274
HP:0002795	Abnormal respiratory system physiology	91754	NEK9	OMIM:614262
HP:0002795	Abnormal respiratory system physiology	240	ALOX5	OMIM:600807
HP:0002795	Abnormal respiratory system physiology	6356	CCL11	OMIM:600807
HP:0002795	Abnormal respiratory system physiology	7124	TNF	OMIM:600807
HP:0002795	Abnormal respiratory system physiology	3176	HNMT	OMIM:600807
HP:0002795	Abnormal respiratory system physiology	4589	MUC7	OMIM:600807
HP:0002795	Abnormal respiratory system physiology	117156	SCGB3A2	OMIM:600807
HP:0002795	Abnormal respiratory system physiology	3135	HLA-G	OMIM:600807
HP:0002795	Abnormal respiratory system physiology	3596	IL13	OMIM:600807
HP:0002795	Abnormal respiratory system physiology	5238	PGM3	ORPHA:443811
HP:0002795	Abnormal respiratory system physiology	5238	PGM3	OMIM:615816
HP:0002795	Abnormal respiratory system physiology	987	LRBA	OMIM:614700
HP:0002795	Abnormal respiratory system physiology	90459	ERI1	OMIM:620663
HP:0002795	Abnormal respiratory system physiology	79796	ALG9	OMIM:608776
HP:0002795	Abnormal respiratory system physiology	79796	ALG9	ORPHA:79328
HP:0002795	Abnormal respiratory system physiology	10999	SLC27A4	OMIM:608649
HP:0002795	Abnormal respiratory system physiology	27125	AFF4	ORPHA:444077
HP:0002795	Abnormal respiratory system physiology	1387	CREBBP	ORPHA:353281
HP:0002795	Abnormal respiratory system physiology	1387	CREBBP	ORPHA:353277
HP:0002795	Abnormal respiratory system physiology	9578	CDC42BPB	OMIM:619841
HP:0002795	Abnormal respiratory system physiology	4010	LMX1B	ORPHA:495818
HP:0002795	Abnormal respiratory system physiology	6812	STXBP1	ORPHA:495818
HP:0002795	Abnormal respiratory system physiology	5184	PEPD	OMIM:170100
HP:0002795	Abnormal respiratory system physiology	2782	GNB1	OMIM:616973
HP:0002795	Abnormal respiratory system physiology	841	CASP8	OMIM:607271
HP:0002795	Abnormal respiratory system physiology	4953	ODC1	ORPHA:544488
HP:0002795	Abnormal respiratory system physiology	2033	EP300	ORPHA:353284
HP:0002795	Abnormal respiratory system physiology	3716	JAK1	OMIM:618999
HP:0002795	Abnormal respiratory system physiology	28514	DLL1	ORPHA:280200
HP:0002795	Abnormal respiratory system physiology	2253	FGF8	ORPHA:280200
HP:0002795	Abnormal respiratory system physiology	6496	SIX3	ORPHA:280200
HP:0002795	Abnormal respiratory system physiology	7050	TGIF1	ORPHA:280200
HP:0002795	Abnormal respiratory system physiology	4838	NODAL	ORPHA:280200
HP:0002795	Abnormal respiratory system physiology	6469	SHH	ORPHA:280200
HP:0002795	Abnormal respiratory system physiology	51684	SUFU	ORPHA:280200
HP:0002795	Abnormal respiratory system physiology	7546	ZIC2	ORPHA:280200
HP:0002795	Abnormal respiratory system physiology	2619	GAS1	ORPHA:280200
HP:0002795	Abnormal respiratory system physiology	84976	DISP1	ORPHA:280200
HP:0002795	Abnormal respiratory system physiology	2736	GLI2	ORPHA:280200
HP:0002795	Abnormal respiratory system physiology	8928	FOXH1	ORPHA:280200
HP:0002795	Abnormal respiratory system physiology	6997	CRIPTO	ORPHA:280200
HP:0002795	Abnormal respiratory system physiology	5727	PTCH1	ORPHA:280200
HP:0002795	Abnormal respiratory system physiology	50937	CDON	ORPHA:280200
HP:0002795	Abnormal respiratory system physiology	2212	FCGR2A	OMIM:219700
HP:0002795	Abnormal respiratory system physiology	7040	TGFB1	OMIM:219700
HP:0002795	Abnormal respiratory system physiology	7040	TGFB1	ORPHA:586
HP:0002795	Abnormal respiratory system physiology	57589	RIC1	OMIM:618761
HP:0002795	Abnormal respiratory system physiology	80204	FBXO11	OMIM:618089
HP:0002795	Abnormal respiratory system physiology	84100	ARL6	OMIM:209900
HP:0002795	Abnormal respiratory system physiology	84100	ARL6	ORPHA:110
HP:0002795	Abnormal respiratory system physiology	79140	CCDC28B	OMIM:209900
HP:0002795	Abnormal respiratory system physiology	582	BBS1	OMIM:209900
HP:0002795	Abnormal respiratory system physiology	582	BBS1	ORPHA:110
HP:0002795	Abnormal respiratory system physiology	7840	ALMS1	OMIM:203800
HP:0002795	Abnormal respiratory system physiology	7080	NKX2-1	ORPHA:209905
HP:0002795	Abnormal respiratory system physiology	7080	NKX2-1	OMIM:610978
HP:0002795	Abnormal respiratory system physiology	1312	COMT	ORPHA:567
HP:0002795	Abnormal respiratory system physiology	221037	JMJD1C	ORPHA:567
HP:0002795	Abnormal respiratory system physiology	6239	RREB1	ORPHA:567
HP:0002795	Abnormal respiratory system physiology	6899	TBX1	ORPHA:567
HP:0002795	Abnormal respiratory system physiology	6899	TBX1	OMIM:188400
HP:0002795	Abnormal respiratory system physiology	7290	HIRA	ORPHA:567
HP:0002795	Abnormal respiratory system physiology	9632	SEC24C	ORPHA:567
HP:0002795	Abnormal respiratory system physiology	7353	UFD1	ORPHA:567
HP:0002795	Abnormal respiratory system physiology	421	ARVCF	ORPHA:567
HP:0002795	Abnormal respiratory system physiology	2068	ERCC2	OMIM:601675
HP:0002795	Abnormal respiratory system physiology	64919	BCL11B	OMIM:618092
HP:0002795	Abnormal respiratory system physiology	51428	DDX41	OMIM:616871
HP:0002795	Abnormal respiratory system physiology	146206	CARMIL2	OMIM:618131
HP:0002795	Abnormal respiratory system physiology	64127	NOD2	OMIM:617321
HP:0002795	Abnormal respiratory system physiology	2475	MTOR	ORPHA:457485
HP:0002795	Abnormal respiratory system physiology	2783	GNB2	OMIM:619503
HP:0002795	Abnormal respiratory system physiology	6785	ELOVL4	OMIM:614457
HP:0002795	Abnormal respiratory system physiology	91039	DPP9	OMIM:620331
HP:0002795	Abnormal respiratory system physiology	84701	COX4I2	OMIM:612714
HP:0002795	Abnormal respiratory system physiology	64864	RFX7	OMIM:620330
HP:0002795	Abnormal respiratory system physiology	92482	BBIP1	ORPHA:110
HP:0002795	Abnormal respiratory system physiology	80184	CEP290	ORPHA:110
HP:0002795	Abnormal respiratory system physiology	11020	IFT27	ORPHA:110
HP:0002795	Abnormal respiratory system physiology	49855	SCAPER	ORPHA:110
HP:0002795	Abnormal respiratory system physiology	4867	NPHP1	ORPHA:110
HP:0002795	Abnormal respiratory system physiology	51057	WDPCP	ORPHA:110
HP:0002795	Abnormal respiratory system physiology	132320	SCLT1	ORPHA:110
HP:0002795	Abnormal respiratory system physiology	27241	BBS9	ORPHA:110
HP:0002795	Abnormal respiratory system physiology	84984	CEP19	ORPHA:110
HP:0002795	Abnormal respiratory system physiology	22954	TRIM32	ORPHA:110
HP:0002795	Abnormal respiratory system physiology	54903	MKS1	ORPHA:110
HP:0002795	Abnormal respiratory system physiology	79738	BBS10	ORPHA:110
HP:0002795	Abnormal respiratory system physiology	123016	TTC8	ORPHA:110
HP:0002795	Abnormal respiratory system physiology	583	BBS2	ORPHA:110
HP:0002795	Abnormal respiratory system physiology	585	BBS4	ORPHA:110
HP:0002795	Abnormal respiratory system physiology	8195	MKKS	ORPHA:110
HP:0002795	Abnormal respiratory system physiology	54585	LZTFL1	ORPHA:110
HP:0002795	Abnormal respiratory system physiology	55212	BBS7	ORPHA:110
HP:0002795	Abnormal respiratory system physiology	166379	BBS12	ORPHA:110
HP:0002795	Abnormal respiratory system physiology	10806	SDCCAG8	ORPHA:110
HP:0002795	Abnormal respiratory system physiology	157657	CFAP418	ORPHA:110
HP:0002795	Abnormal respiratory system physiology	129880	BBS5	ORPHA:110
HP:0002795	Abnormal respiratory system physiology	80173	IFT74	ORPHA:110
HP:0002795	Abnormal respiratory system physiology	30009	TBX21	OMIM:619630
HP:0002795	Abnormal respiratory system physiology	30009	TBX21	OMIM:208550
HP:0002795	Abnormal respiratory system physiology	7874	USP7	ORPHA:500055
HP:0002795	Abnormal respiratory system physiology	3572	IL6ST	OMIM:619752
HP:0002795	Abnormal respiratory system physiology	3572	IL6ST	OMIM:619750
HP:0002795	Abnormal respiratory system physiology	29775	CARD10	OMIM:619632
HP:0002795	Abnormal respiratory system physiology	10526	IPO8	OMIM:619472
HP:0002795	Abnormal respiratory system physiology	5732	PTGER2	OMIM:208550
HP:0002795	Abnormal respiratory system physiology	5336	PLCG2	OMIM:614468
HP:0002795	Abnormal respiratory system physiology	415	ARSL	ORPHA:79345
HP:0002795	Abnormal respiratory system physiology	2312	FLG	OMIM:146700
HP:0002795	Abnormal respiratory system physiology	1041	CDSN	OMIM:270300
HP:0002795	Abnormal respiratory system physiology	93986	FOXP2	ORPHA:251061
HP:0002795	Abnormal respiratory system physiology	6804	STX1A	ORPHA:586
HP:0002795	Abnormal respiratory system physiology	2947	GSTM3	ORPHA:586
HP:0002795	Abnormal respiratory system physiology	2729	GCLC	ORPHA:586
HP:0002795	Abnormal respiratory system physiology	1084	CEACAM3	ORPHA:586
HP:0002795	Abnormal respiratory system physiology	6556	SLC11A1	ORPHA:586
HP:0002795	Abnormal respiratory system physiology	51164	DCTN4	ORPHA:586
HP:0002795	Abnormal respiratory system physiology	3783	KCNN4	ORPHA:586
HP:0002795	Abnormal respiratory system physiology	4282	MIF	ORPHA:586
HP:0002795	Abnormal respiratory system physiology	1909	EDNRA	ORPHA:586
HP:0002795	Abnormal respiratory system physiology	6550	SLC9A3	ORPHA:586
HP:0002795	Abnormal respiratory system physiology	3162	HMOX1	ORPHA:586
HP:0002795	Abnormal respiratory system physiology	115019	SLC26A9	ORPHA:586
HP:0002795	Abnormal respiratory system physiology	3077	HFE	ORPHA:586
HP:0002795	Abnormal respiratory system physiology	11254	SLC6A14	ORPHA:586
HP:0002795	Abnormal respiratory system physiology	5265	SERPINA1	ORPHA:586
HP:0002795	Abnormal respiratory system physiology	22802	CLCA4	ORPHA:586
HP:0002795	Abnormal respiratory system physiology	4680	CEACAM6	ORPHA:586
HP:0002795	Abnormal respiratory system physiology	374879	ZNF699	OMIM:619488
HP:0002795	Abnormal respiratory system physiology	5971	RELB	OMIM:617585
HP:0002795	Abnormal respiratory system physiology	10293	TRAIP	OMIM:616777
HP:0002795	Abnormal respiratory system physiology	3481	IGF2	ORPHA:397590
HP:0002795	Abnormal respiratory system physiology	1028	CDKN1C	ORPHA:397590
HP:0002795	Abnormal respiratory system physiology	5324	PLAG1	ORPHA:397590
HP:0002795	Abnormal respiratory system physiology	8091	HMGA2	ORPHA:397590
HP:0002795	Abnormal respiratory system physiology	11005	SPINK5	OMIM:256500
HP:0002795	Abnormal respiratory system physiology	11005	SPINK5	ORPHA:634
HP:0002795	Abnormal respiratory system physiology	55717	WDR11	OMIM:620237
HP:0002795	Abnormal respiratory system physiology	6392	SDHD	ORPHA:100093
HP:0002795	Abnormal respiratory system physiology	10551	AGR2	OMIM:620233
HP:0002795	Abnormal respiratory system physiology	23387	SIK3	OMIM:618162
HP:0002795	Abnormal respiratory system physiology	55898	UNC45A	OMIM:619377
HP:0002795	Abnormal respiratory system physiology	79989	IFT56	OMIM:619534
HP:0002795	Abnormal respiratory system physiology	3423	IDS	OMIM:309900
HP:0002795	Abnormal respiratory system physiology	4791	NFKB2	OMIM:615577
HP:0002795	Abnormal respiratory system physiology	79977	GRHL2	OMIM:616029
HP:0002795	Abnormal respiratory system physiology	100	ADA	OMIM:102700
HP:0002795	Abnormal respiratory system physiology	2678	GGT1	OMIM:231950
HP:0002795	Abnormal respiratory system physiology	738	VPS51	OMIM:618606
HP:0002795	Abnormal respiratory system physiology	84433	CARD11	OMIM:617638
HP:0002795	Abnormal respiratory system physiology	51322	WAC	ORPHA:466950
HP:0002795	Abnormal respiratory system physiology	3514	IGKC	ORPHA:183675
HP:0002795	Abnormal respiratory system physiology	3501	IGHG2	ORPHA:183675
HP:0002795	Abnormal respiratory system physiology	81704	DOCK8	OMIM:243700
HP:0002795	Abnormal respiratory system physiology	81704	DOCK8	ORPHA:217390
HP:0002795	Abnormal respiratory system physiology	375056	MIA3	OMIM:619269
HP:0002795	Abnormal respiratory system physiology	721	C4B	OMIM:614379
HP:0002795	Abnormal respiratory system physiology	6778	STAT6	OMIM:620532
HP:0002795	Abnormal respiratory system physiology	4067	LYN	OMIM:620376
HP:0002795	Abnormal respiratory system physiology	9898	UBAP2L	OMIM:620494
HP:0002795	Abnormal respiratory system physiology	4914	NTRK1	ORPHA:642
HP:0002795	Abnormal respiratory system physiology	535	ATP6V0A1	OMIM:619971
HP:0002795	Abnormal respiratory system physiology	378884	NHLRC1	ORPHA:501
HP:0002795	Abnormal respiratory system physiology	7957	EPM2A	ORPHA:501
HP:0002795	Abnormal respiratory system physiology	80144	FRAS1	ORPHA:2052
HP:0002795	Abnormal respiratory system physiology	23426	GRIP1	ORPHA:2052
HP:0002795	Abnormal respiratory system physiology	23426	GRIP1	OMIM:617667
HP:0002795	Abnormal respiratory system physiology	2657	GDF1	OMIM:208530
HP:0002795	Abnormal respiratory system physiology	2187	FANCB	OMIM:300514
HP:0002795	Abnormal respiratory system physiology	284086	NEK8	OMIM:615415
HP:0002795	Abnormal respiratory system physiology	10436	EMG1	ORPHA:1270
HP:0002795	Abnormal respiratory system physiology	2213	FCGR2B	OMIM:152700
HP:0002795	Abnormal respiratory system physiology	11277	TREX1	OMIM:152700
HP:0002795	Abnormal respiratory system physiology	1773	DNASE1	OMIM:152700
HP:0002795	Abnormal respiratory system physiology	10216	PRG4	ORPHA:2848
HP:0002795	Abnormal respiratory system physiology	7132	TNFRSF1A	OMIM:142680
HP:0002795	Abnormal respiratory system physiology	7132	TNFRSF1A	ORPHA:32960
HP:0002795	Abnormal respiratory system physiology	940	CD28	ORPHA:3162
HP:0002795	Abnormal respiratory system physiology	7133	TNFRSF1B	ORPHA:3162
HP:0002795	Abnormal respiratory system physiology	27238	GPKOW	ORPHA:2570
HP:0002795	Abnormal respiratory system physiology	3155	HMGCL	ORPHA:20
HP:0002795	Abnormal respiratory system physiology	4524	MTHFR	ORPHA:395
HP:0002795	Abnormal respiratory system physiology	51422	PRKAG2	OMIM:261740
HP:0002795	Abnormal respiratory system physiology	9759	HDAC4	OMIM:619797
HP:0002795	Abnormal respiratory system physiology	95	ACY1	ORPHA:137754
HP:0002795	Abnormal respiratory system physiology	53616	ADAM22	OMIM:617933
HP:0002795	Abnormal respiratory system physiology	6334	SCN8A	ORPHA:306
HP:0002795	Abnormal respiratory system physiology	6326	SCN2A	ORPHA:306
HP:0002795	Abnormal respiratory system physiology	6326	SCN2A	ORPHA:140927
HP:0002795	Abnormal respiratory system physiology	6326	SCN2A	OMIM:607745
HP:0002795	Abnormal respiratory system physiology	3785	KCNQ2	ORPHA:306
HP:0002795	Abnormal respiratory system physiology	3785	KCNQ2	ORPHA:140927
HP:0002795	Abnormal respiratory system physiology	3785	KCNQ2	ORPHA:1949
HP:0002795	Abnormal respiratory system physiology	3785	KCNQ2	ORPHA:439218
HP:0002795	Abnormal respiratory system physiology	3786	KCNQ3	ORPHA:306
HP:0002795	Abnormal respiratory system physiology	3786	KCNQ3	ORPHA:1949
HP:0002795	Abnormal respiratory system physiology	256297	PTF1A	OMIM:609069
HP:0002795	Abnormal respiratory system physiology	10312	TCIRG1	ORPHA:667
HP:0002795	Abnormal respiratory system physiology	1186	CLCN7	ORPHA:667
HP:0002795	Abnormal respiratory system physiology	29887	SNX10	ORPHA:667
HP:0002795	Abnormal respiratory system physiology	8600	TNFSF11	ORPHA:667
HP:0002795	Abnormal respiratory system physiology	6341	SCO1	OMIM:619048
HP:0002795	Abnormal respiratory system physiology	249	ALPL	OMIM:241500
HP:0002795	Abnormal respiratory system physiology	4695	NDUFA2	OMIM:618235
HP:0002795	Abnormal respiratory system physiology	29968	PSAT1	OMIM:610992
HP:0002795	Abnormal respiratory system physiology	1644	DDC	OMIM:608643
HP:0002795	Abnormal respiratory system physiology	5105	PCK1	OMIM:261680
HP:0002795	Abnormal respiratory system physiology	816	CAMK2B	OMIM:617799
HP:0002795	Abnormal respiratory system physiology	686	BTD	OMIM:253260
HP:0002795	Abnormal respiratory system physiology	686	BTD	ORPHA:79241
HP:0002795	Abnormal respiratory system physiology	114034	TOE1	OMIM:614969
HP:0002795	Abnormal respiratory system physiology	54675	CRLS1	OMIM:620167
HP:0002795	Abnormal respiratory system physiology	51524	TMEM138	ORPHA:2318
HP:0002795	Abnormal respiratory system physiology	23090	ZNF423	ORPHA:2318
HP:0002795	Abnormal respiratory system physiology	51259	TMEM216	ORPHA:2318
HP:0002795	Abnormal respiratory system physiology	51259	TMEM216	ORPHA:2754
HP:0002795	Abnormal respiratory system physiology	5621	PRNP	OMIM:600072
HP:0002795	Abnormal respiratory system physiology	3767	KCNJ11	ORPHA:79644
HP:0002795	Abnormal respiratory system physiology	8604	SLC25A12	OMIM:612949
HP:0002795	Abnormal respiratory system physiology	5095	PCCA	OMIM:606054
HP:0002795	Abnormal respiratory system physiology	5096	PCCB	OMIM:606054
HP:0002795	Abnormal respiratory system physiology	2898	GRIK2	OMIM:619580
HP:0002795	Abnormal respiratory system physiology	9184	BUB3	ORPHA:1052
HP:0002795	Abnormal respiratory system physiology	699	BUB1	ORPHA:1052
HP:0002795	Abnormal respiratory system physiology	9702	CEP57	ORPHA:1052
HP:0002795	Abnormal respiratory system physiology	701	BUB1B	ORPHA:1052
HP:0002795	Abnormal respiratory system physiology	84314	TMEM107	OMIM:617563
HP:0002795	Abnormal respiratory system physiology	23314	SATB2	OMIM:612313
HP:0002795	Abnormal respiratory system physiology	9734	HDAC9	OMIM:620457
HP:0002795	Abnormal respiratory system physiology	2773	GNAI3	OMIM:602483
HP:0002795	Abnormal respiratory system physiology	8943	AP3D1	OMIM:617050
HP:0002795	Abnormal respiratory system physiology	728294	D2HGDH	OMIM:600721
HP:0002795	Abnormal respiratory system physiology	23522	KAT6B	ORPHA:85201
HP:0002795	Abnormal respiratory system physiology	116461	TSEN15	ORPHA:2524
HP:0002795	Abnormal respiratory system physiology	79042	TSEN34	ORPHA:2524
HP:0002795	Abnormal respiratory system physiology	80746	TSEN2	ORPHA:2524
HP:0002795	Abnormal respiratory system physiology	51091	SEPSECS	ORPHA:2524
HP:0002795	Abnormal respiratory system physiology	4976	OPA1	OMIM:616896
HP:0002795	Abnormal respiratory system physiology	57038	RARS2	OMIM:611523
HP:0002795	Abnormal respiratory system physiology	7841	MOGS	ORPHA:79330
HP:0002795	Abnormal respiratory system physiology	8241	RBM10	ORPHA:2886
HP:0002795	Abnormal respiratory system physiology	139285	AMER1	OMIM:300373
HP:0002795	Abnormal respiratory system physiology	54941	RNF125	OMIM:616260
HP:0002795	Abnormal respiratory system physiology	3798	KIF5A	OMIM:617235
HP:0002795	Abnormal respiratory system physiology	2902	GRIN1	OMIM:619814
HP:0002795	Abnormal respiratory system physiology	54148	MRPL39	OMIM:620646
HP:0002795	Abnormal respiratory system physiology	10210	TOPORS	ORPHA:2754
HP:0002795	Abnormal respiratory system physiology	317662	FAM149B1	ORPHA:2754
HP:0002795	Abnormal respiratory system physiology	374654	KIF7	ORPHA:2754
HP:0002795	Abnormal respiratory system physiology	221927	BRAT1	OMIM:618056
HP:0002795	Abnormal respiratory system physiology	221927	BRAT1	OMIM:614498
HP:0002795	Abnormal respiratory system physiology	3329	HSPD1	OMIM:612233
HP:0002795	Abnormal respiratory system physiology	6497	SKI	ORPHA:2462
HP:0002795	Abnormal respiratory system physiology	498	ATP5F1A	OMIM:615228
HP:0002795	Abnormal respiratory system physiology	1289	COL5A1	OMIM:130000
HP:0002795	Abnormal respiratory system physiology	1290	COL5A2	OMIM:130010
HP:0002795	Abnormal respiratory system physiology	10092	ARPC5	OMIM:620565
HP:0002795	Abnormal respiratory system physiology	2153	F5	ORPHA:326
HP:0002795	Abnormal respiratory system physiology	55340	GIMAP5	OMIM:619463
HP:0002795	Abnormal respiratory system physiology	113189	CHST14	ORPHA:2953
HP:0002795	Abnormal respiratory system physiology	113189	CHST14	OMIM:601776
HP:0002795	Abnormal respiratory system physiology	29940	DSE	ORPHA:2953
HP:0002795	Abnormal respiratory system physiology	10352	WARS2	OMIM:619738
HP:0002795	Abnormal respiratory system physiology	2131	EXT1	ORPHA:321
HP:0002795	Abnormal respiratory system physiology	2132	EXT2	ORPHA:321
HP:0002795	Abnormal respiratory system physiology	3071	NCKAP1L	OMIM:618982
HP:0002795	Abnormal respiratory system physiology	1729	DIAPH1	ORPHA:477814
HP:0002795	Abnormal respiratory system physiology	1729	DIAPH1	OMIM:616632
HP:0002795	Abnormal respiratory system physiology	9948	WDR1	OMIM:150550
HP:0002795	Abnormal respiratory system physiology	5424	POLD1	OMIM:620836
HP:0002795	Abnormal respiratory system physiology	3604	TNFRSF9	OMIM:620282
HP:0002795	Abnormal respiratory system physiology	54453	RIN2	OMIM:613075
HP:0002795	Abnormal respiratory system physiology	10379	IRF9	OMIM:618648
HP:0002795	Abnormal respiratory system physiology	5426	POLE	OMIM:615139
HP:0002795	Abnormal respiratory system physiology	10125	RASGRP1	OMIM:618534
HP:0002795	Abnormal respiratory system physiology	54440	SASH3	OMIM:301082
HP:0002795	Abnormal respiratory system physiology	6789	STK4	OMIM:614868
HP:0002795	Abnormal respiratory system physiology	55719	SLF2	OMIM:620184
HP:0002795	Abnormal respiratory system physiology	11117	EMILIN1	OMIM:620080
HP:0002795	Abnormal respiratory system physiology	96459	FNIP1	OMIM:619705
HP:0002795	Abnormal respiratory system physiology	55315	SLC29A3	ORPHA:168569
HP:0002795	Abnormal respiratory system physiology	9138	ARHGEF1	OMIM:618459
HP:0002795	Abnormal respiratory system physiology	356	FASLG	ORPHA:3261
HP:0002795	Abnormal respiratory system physiology	843	CASP10	ORPHA:3261
HP:0002795	Abnormal respiratory system physiology	330	BIRC3	ORPHA:52417
HP:0002795	Abnormal respiratory system physiology	10892	MALT1	ORPHA:52417
HP:0002795	Abnormal respiratory system physiology	27086	FOXP1	ORPHA:52417
HP:0002795	Abnormal respiratory system physiology	3492	IGH	ORPHA:52417
HP:0002795	Abnormal respiratory system physiology	8915	BCL10	ORPHA:52417
HP:0002795	Abnormal respiratory system physiology	5156	PDGFRA	OMIM:607685
HP:0002795	Abnormal respiratory system physiology	53335	BCL11A	ORPHA:251380
HP:0002795	Abnormal respiratory system physiology	10661	KLF1	ORPHA:251380
HP:0002795	Abnormal respiratory system physiology	3047	HBG1	ORPHA:251380
HP:0002795	Abnormal respiratory system physiology	3048	HBG2	ORPHA:251380
HP:0002795	Abnormal respiratory system physiology	60468	BACH2	OMIM:618394
HP:0002795	Abnormal respiratory system physiology	348	APOE	ORPHA:158029
HP:0002795	Abnormal respiratory system physiology	3559	IL2RA	OMIM:606367
HP:0002795	Abnormal respiratory system physiology	5873	RAB27A	ORPHA:79477
HP:0002795	Abnormal respiratory system physiology	83483	PLVAP	OMIM:618183
HP:0002795	Abnormal respiratory system physiology	8216	LZTR1	OMIM:616564
HP:0002795	Abnormal respiratory system physiology	6016	RIT1	OMIM:615355
HP:0002795	Abnormal respiratory system physiology	25821	MTO1	OMIM:614702
HP:0002795	Abnormal respiratory system physiology	596	BCL2	ORPHA:545
HP:0002795	Abnormal respiratory system physiology	604	BCL6	ORPHA:545
HP:0002795	Abnormal respiratory system physiology	84162	BLTP1	OMIM:617822
HP:0002795	Abnormal respiratory system physiology	54345	SOX18	ORPHA:69735
HP:0002795	Abnormal respiratory system physiology	2859	GPR35	ORPHA:171
HP:0002795	Abnormal respiratory system physiology	10507	SEMA4D	ORPHA:171
HP:0002795	Abnormal respiratory system physiology	4485	MST1	ORPHA:171
HP:0002795	Abnormal respiratory system physiology	50619	DEF6	OMIM:619573
HP:0002795	Abnormal respiratory system physiology	1130	LYST	ORPHA:167
HP:0002795	Abnormal respiratory system physiology	10203	CALCRL	OMIM:618773
HP:0002795	Abnormal respiratory system physiology	650	BMP2	OMIM:235200
HP:0002795	Abnormal respiratory system physiology	595	CCND1	ORPHA:29073
HP:0002795	Abnormal respiratory system physiology	3702	ITK	OMIM:613011
HP:0002795	Abnormal respiratory system physiology	11330	CTRC	OMIM:167800
HP:0002795	Abnormal respiratory system physiology	5645	PRSS2	OMIM:167800
HP:0002795	Abnormal respiratory system physiology	5644	PRSS1	OMIM:167800
HP:0002795	Abnormal respiratory system physiology	6690	SPINK1	OMIM:167800
HP:0002795	Abnormal respiratory system physiology	202018	TAPT1	OMIM:616897
HP:0002795	Abnormal respiratory system physiology	3832	KIF11	ORPHA:2526
HP:0002795	Abnormal respiratory system physiology	5498	PPOX	ORPHA:79473
HP:0002795	Abnormal respiratory system physiology	100134444	KCNJ18	ORPHA:79102
HP:0002795	Abnormal respiratory system physiology	2556	GABRA3	ORPHA:79102
HP:0002795	Abnormal respiratory system physiology	2658	GDF2	ORPHA:774
HP:0002795	Abnormal respiratory system physiology	875	CBS	ORPHA:394
HP:0002795	Abnormal respiratory system physiology	2162	F13A1	OMIM:188050
HP:0002795	Abnormal respiratory system physiology	2147	F2	OMIM:188050
HP:0002795	Abnormal respiratory system physiology	7056	THBD	OMIM:614486
HP:0002795	Abnormal respiratory system physiology	25974	MMACHC	ORPHA:79282
HP:0002795	Abnormal respiratory system physiology	462	SERPINC1	OMIM:613118
HP:0002795	Abnormal respiratory system physiology	462	SERPINC1	ORPHA:82
HP:0002795	Abnormal respiratory system physiology	5624	PROC	OMIM:612304
HP:0002795	Abnormal respiratory system physiology	5624	PROC	ORPHA:745
HP:0002795	Abnormal respiratory system physiology	5624	PROC	OMIM:176860
HP:0002795	Abnormal respiratory system physiology	5627	PROS1	ORPHA:743
HP:0002795	Abnormal respiratory system physiology	5627	PROS1	OMIM:614514
HP:0002795	Abnormal respiratory system physiology	5627	PROS1	OMIM:612336
HP:0002795	Abnormal respiratory system physiology	2776	GNAQ	ORPHA:624
HP:0002795	Abnormal respiratory system physiology	2776	GNAQ	ORPHA:3205
HP:0002795	Abnormal respiratory system physiology	1604	CD55	OMIM:226300
HP:0002795	Abnormal respiratory system physiology	2157	F8	OMIM:301071
HP:0002795	Abnormal respiratory system physiology	149233	IL23R	ORPHA:117
HP:0002795	Abnormal respiratory system physiology	3586	IL10	ORPHA:117
HP:0002795	Abnormal respiratory system physiology	4210	MEFV	ORPHA:117
HP:0002795	Abnormal respiratory system physiology	1230	CCR1	ORPHA:117
HP:0002795	Abnormal respiratory system physiology	355	FAS	ORPHA:117
HP:0002795	Abnormal respiratory system physiology	3592	IL12A	ORPHA:117
HP:0002795	Abnormal respiratory system physiology	101928376	IL12A-AS1	ORPHA:117
HP:0002795	Abnormal respiratory system physiology	7099	TLR4	ORPHA:117
HP:0002795	Abnormal respiratory system physiology	720	C4A	ORPHA:117
HP:0002795	Abnormal respiratory system physiology	337867	UBAC2	ORPHA:117
HP:0002795	Abnormal respiratory system physiology	51752	ERAP1	ORPHA:117
HP:0002795	Abnormal respiratory system physiology	8302	KLRC4	ORPHA:117
HP:0002795	Abnormal respiratory system physiology	8367	H4C5	OMIM:619950
HP:0002795	Abnormal respiratory system physiology	10054	UBA2	OMIM:619959
HP:0002795	Abnormal respiratory system physiology	652	BMP4	ORPHA:828
HP:0002795	Abnormal respiratory system physiology	7360	UGP2	OMIM:618744
HP:0002795	Abnormal respiratory system physiology	128178	EDARADD	OMIM:614941
HP:0002795	Abnormal respiratory system physiology	1131	CHRM3	ORPHA:2970
HP:0002795	Abnormal respiratory system physiology	613	BCR	ORPHA:261330
HP:0002795	Abnormal respiratory system physiology	1399	CRKL	ORPHA:261330
HP:0002795	Abnormal respiratory system physiology	5594	MAPK1	ORPHA:261330
HP:0002795	Abnormal respiratory system physiology	51506	UFC1	OMIM:618076
HP:0002795	Abnormal respiratory system physiology	283489	CHAMP1	OMIM:616579
HP:0002795	Abnormal respiratory system physiology	25782	RAB3GAP2	OMIM:212720
HP:0002795	Abnormal respiratory system physiology	57492	ARID1B	OMIM:135900
HP:0002795	Abnormal respiratory system physiology	284058	KANSL1	ORPHA:363958
HP:0002795	Abnormal respiratory system physiology	284058	KANSL1	ORPHA:363965
HP:0002795	Abnormal respiratory system physiology	9326	ZNHIT3	ORPHA:2836
HP:0002795	Abnormal respiratory system physiology	64359	NXN	ORPHA:1507
HP:0002795	Abnormal respiratory system physiology	4920	ROR2	ORPHA:1507
HP:0002795	Abnormal respiratory system physiology	100303755	PET117	OMIM:619063
HP:0002795	Abnormal respiratory system physiology	10815	CPLX1	ORPHA:280
HP:0002795	Abnormal respiratory system physiology	54872	PIGG	ORPHA:280
HP:0002795	Abnormal respiratory system physiology	7469	NELFA	ORPHA:280
HP:0002795	Abnormal respiratory system physiology	1487	CTBP1	ORPHA:280
HP:0002795	Abnormal respiratory system physiology	3954	LETM1	ORPHA:280
HP:0002795	Abnormal respiratory system physiology	7468	NSD2	ORPHA:280
HP:0002795	Abnormal respiratory system physiology	28755	TRAC	OMIM:615387
HP:0002795	Abnormal respiratory system physiology	79813	EHMT1	OMIM:610253
HP:0002795	Abnormal respiratory system physiology	29128	UHRF1	ORPHA:2268
HP:0002795	Abnormal respiratory system physiology	3070	HELLS	ORPHA:2268
HP:0002795	Abnormal respiratory system physiology	83879	CDCA7	ORPHA:2268
HP:0002795	Abnormal respiratory system physiology	3425	IDUA	OMIM:607014
HP:0002795	Abnormal respiratory system physiology	3425	IDUA	OMIM:607015
HP:0002795	Abnormal respiratory system physiology	3425	IDUA	ORPHA:93473
HP:0002795	Abnormal respiratory system physiology	175	AGA	ORPHA:93
HP:0002795	Abnormal respiratory system physiology	175	AGA	OMIM:208400
HP:0002795	Abnormal respiratory system physiology	4853	NOTCH2	ORPHA:955
HP:0002795	Abnormal respiratory system physiology	30011	SH3KBP1	OMIM:300310
HP:0002795	Abnormal respiratory system physiology	57217	TTC7A	OMIM:243150
HP:0002795	Abnormal respiratory system physiology	23126	POGZ	OMIM:616364
HP:0002795	Abnormal respiratory system physiology	55773	TBC1D23	OMIM:617695
HP:0002795	Abnormal respiratory system physiology	7461	CLIP2	ORPHA:904
HP:0002795	Abnormal respiratory system physiology	84277	DNAJC30	ORPHA:904
HP:0002795	Abnormal respiratory system physiology	8468	FKBP6	ORPHA:904
HP:0002795	Abnormal respiratory system physiology	5982	RFC2	ORPHA:904
HP:0002795	Abnormal respiratory system physiology	2969	GTF2I	ORPHA:904
HP:0002795	Abnormal respiratory system physiology	3984	LIMK1	ORPHA:904
HP:0002795	Abnormal respiratory system physiology	9569	GTF2IRD1	ORPHA:904
HP:0002795	Abnormal respiratory system physiology	155382	VPS37D	ORPHA:904
HP:0002795	Abnormal respiratory system physiology	155368	METTL27	ORPHA:904
HP:0002795	Abnormal respiratory system physiology	114049	BUD23	ORPHA:904
HP:0002795	Abnormal respiratory system physiology	7458	EIF4H	ORPHA:904
HP:0002795	Abnormal respiratory system physiology	84163	GTF2IRD2	ORPHA:904
HP:0002795	Abnormal respiratory system physiology	26608	TBL2	ORPHA:904
HP:0002795	Abnormal respiratory system physiology	135886	TMEM270	ORPHA:904
HP:0002795	Abnormal respiratory system physiology	9031	BAZ1B	ORPHA:904
HP:0002795	Abnormal respiratory system physiology	8364	H4C3	OMIM:619758
HP:0002795	Abnormal respiratory system physiology	8085	KMT2D	OMIM:620186
HP:0002795	Abnormal respiratory system physiology	4644	MYO5A	ORPHA:33445
HP:0002795	Abnormal respiratory system physiology	9772	TMEM94	OMIM:618316
HP:0002795	Abnormal respiratory system physiology	917	CD3G	OMIM:615607
HP:0002795	Abnormal respiratory system physiology	9338	TCEAL1	OMIM:301094
HP:0002795	Abnormal respiratory system physiology	57724	EPG5	OMIM:242840
HP:0002795	Abnormal respiratory system physiology	57724	EPG5	ORPHA:1493
HP:0002795	Abnormal respiratory system physiology	8242	KDM5C	OMIM:300534
HP:0002795	Abnormal respiratory system physiology	84522	JAGN1	OMIM:616022
HP:0002795	Abnormal respiratory system physiology	3551	IKBKB	OMIM:618204
HP:0002795	Abnormal respiratory system physiology	6509	SLC1A4	ORPHA:447997
HP:0002795	Abnormal respiratory system physiology	2000	ELF4	OMIM:301074
HP:0002795	Abnormal respiratory system physiology	6595	SMARCA2	OMIM:601358
HP:0002795	Abnormal respiratory system physiology	7227	TRPS1	OMIM:190350
HP:0002795	Abnormal respiratory system physiology	7319	UBE2A	ORPHA:163956
HP:0002795	Abnormal respiratory system physiology	5908	RAP1B	OMIM:620654
HP:0002795	Abnormal respiratory system physiology	1828	DSG1	OMIM:615508
HP:0002795	Abnormal respiratory system physiology	219285	SAMD9L	ORPHA:2585
HP:0002795	Abnormal respiratory system physiology	9091	PIGQ	ORPHA:1934
HP:0002795	Abnormal respiratory system physiology	140679	SLC32A1	ORPHA:1934
HP:0002795	Abnormal respiratory system physiology	2775	GNAO1	ORPHA:1934
HP:0002795	Abnormal respiratory system physiology	81603	TRIM8	ORPHA:1934
HP:0002795	Abnormal respiratory system physiology	79751	SLC25A22	ORPHA:1934
HP:0002795	Abnormal respiratory system physiology	23312	DMXL2	ORPHA:1934
HP:0002795	Abnormal respiratory system physiology	11284	PNKP	ORPHA:1934
HP:0002795	Abnormal respiratory system physiology	51227	PIGP	ORPHA:1934
HP:0002795	Abnormal respiratory system physiology	4761	NEUROD2	ORPHA:1934
HP:0002795	Abnormal respiratory system physiology	204	AK2	ORPHA:33355
HP:0002795	Abnormal respiratory system physiology	4126	MANBA	ORPHA:118
HP:0002795	Abnormal respiratory system physiology	331	XIAP	OMIM:300635
HP:0002795	Abnormal respiratory system physiology	331	XIAP	OMIM:308240
HP:0002795	Abnormal respiratory system physiology	113235	SLC46A1	ORPHA:90045
HP:0002795	Abnormal respiratory system physiology	7372	UMPS	ORPHA:30
HP:0002795	Abnormal respiratory system physiology	57379	AICDA	OMIM:605258
HP:0002795	Abnormal respiratory system physiology	57511	COG6	ORPHA:363523
HP:0002795	Abnormal respiratory system physiology	4792	NFKBIA	OMIM:612132
HP:0002795	Abnormal respiratory system physiology	6905	TBCE	ORPHA:2323
HP:0002795	Abnormal respiratory system physiology	83479	DDX59	OMIM:174300
HP:0002795	Abnormal respiratory system physiology	6492	SIM1	ORPHA:398079
HP:0002795	Abnormal respiratory system physiology	114803	MYSM1	OMIM:618116
HP:0002795	Abnormal respiratory system physiology	59067	IL21	OMIM:615767
HP:0002795	Abnormal respiratory system physiology	4068	SH2D1A	OMIM:308240
HP:0002795	Abnormal respiratory system physiology	57551	TAOK1	OMIM:619575
HP:0002795	Abnormal respiratory system physiology	84061	MAGT1	OMIM:300853
HP:0002795	Abnormal respiratory system physiology	11280	SCN11A	ORPHA:90026
HP:0002795	Abnormal respiratory system physiology	6336	SCN10A	ORPHA:90026
HP:0002795	Abnormal respiratory system physiology	55764	IFT122	OMIM:218330
HP:0002795	Abnormal respiratory system physiology	7703	PCGF2	OMIM:618371
HP:0002795	Abnormal respiratory system physiology	774	CACNA1B	OMIM:618497
HP:0002795	Abnormal respiratory system physiology	4478	MSN	OMIM:300988
HP:0002795	Abnormal respiratory system physiology	3560	IL2RB	OMIM:618495
HP:0002795	Abnormal respiratory system physiology	25839	COG4	OMIM:613489
HP:0002795	Abnormal respiratory system physiology	8883	NAE1	OMIM:620210
HP:0002795	Abnormal respiratory system physiology	2313	FLI1	ORPHA:2308
HP:0002795	Abnormal respiratory system physiology	151516	ASPRV1	ORPHA:313
HP:0002795	Abnormal respiratory system physiology	242	ALOX12B	ORPHA:313
HP:0002795	Abnormal respiratory system physiology	126410	CYP4F22	ORPHA:313
HP:0002795	Abnormal respiratory system physiology	6820	SULT2B1	ORPHA:313
HP:0002795	Abnormal respiratory system physiology	643418	LIPN	ORPHA:313
HP:0002795	Abnormal respiratory system physiology	59344	ALOXE3	ORPHA:313
HP:0002795	Abnormal respiratory system physiology	348938	NIPAL4	ORPHA:313
HP:0002795	Abnormal respiratory system physiology	121214	SDR9C7	ORPHA:313
HP:0002795	Abnormal respiratory system physiology	7051	TGM1	ORPHA:313
HP:0002795	Abnormal respiratory system physiology	1075	CTSC	ORPHA:678
HP:0002795	Abnormal respiratory system physiology	2517	FUCA1	OMIM:230000
HP:0002795	Abnormal respiratory system physiology	3845	KRAS	OMIM:614470
HP:0002795	Abnormal respiratory system physiology	55617	TASP1	OMIM:618950
HP:0002795	Abnormal respiratory system physiology	51124	IER3IP1	OMIM:614231
HP:0002795	Abnormal respiratory system physiology	57477	SHROOM4	ORPHA:85288
HP:0002795	Abnormal respiratory system physiology	84340	GFM2	OMIM:618397
HP:0002795	Abnormal respiratory system physiology	10398	MYL9	OMIM:619365
HP:0002795	Abnormal respiratory system physiology	6911	TBX6	ORPHA:1797
HP:0002795	Abnormal respiratory system physiology	2890	GRIA1	OMIM:619927
HP:0002795	Abnormal respiratory system physiology	50615	IL21R	OMIM:615207
HP:0002795	Abnormal respiratory system physiology	7297	TYK2	OMIM:611521
HP:0002795	Abnormal respiratory system physiology	1893	ECM1	ORPHA:530
HP:0002795	Abnormal respiratory system physiology	925	CD8A	OMIM:608957
HP:0002795	Abnormal respiratory system physiology	84905	ZNF341	OMIM:618282
HP:0002795	Abnormal respiratory system physiology	8651	SOCS1	OMIM:619375
HP:0002795	Abnormal respiratory system physiology	5116	PCNT	ORPHA:2637
HP:0002795	Abnormal respiratory system physiology	5430	POLR2A	OMIM:618603
HP:0002795	Abnormal respiratory system physiology	9897	WASHC5	ORPHA:7
HP:0002795	Abnormal respiratory system physiology	28952	CCDC22	ORPHA:7
HP:0002795	Abnormal respiratory system physiology	57020	VPS35L	ORPHA:7
HP:0002795	Abnormal respiratory system physiology	56896	DPYSL5	ORPHA:7
HP:0002795	Abnormal respiratory system physiology	6892	TAPBP	OMIM:620814
HP:0002795	Abnormal respiratory system physiology	6891	TAP2	OMIM:620813
HP:0002795	Abnormal respiratory system physiology	25871	NEPRO	OMIM:618853
HP:0002795	Abnormal respiratory system physiology	10043	TOM1	OMIM:619510
HP:0002795	Abnormal respiratory system physiology	55213	RCBTB1	OMIM:617175
HP:0002795	Abnormal respiratory system physiology	79932	KIAA0319L	ORPHA:220402
HP:0002795	Abnormal respiratory system physiology	55596	ZCCHC8	OMIM:618674
HP:0002795	Abnormal respiratory system physiology	79803	HPS6	OMIM:614075
HP:0002795	Abnormal respiratory system physiology	1962	EHHADH	ORPHA:3337
HP:0002795	Abnormal respiratory system physiology	2628	GATM	ORPHA:3337
HP:0002795	Abnormal respiratory system physiology	6569	SLC34A1	ORPHA:3337
HP:0002795	Abnormal respiratory system physiology	8546	AP3B1	OMIM:608233
HP:0002795	Abnormal respiratory system physiology	29893	PSMC3IP	ORPHA:243
HP:0002795	Abnormal respiratory system physiology	171568	POLR3H	ORPHA:243
HP:0002795	Abnormal respiratory system physiology	2516	NR5A1	ORPHA:243
HP:0002795	Abnormal respiratory system physiology	125150	ZSWIM7	ORPHA:243
HP:0002795	Abnormal respiratory system physiology	9210	BMP15	ORPHA:243
HP:0002795	Abnormal respiratory system physiology	23514	SPIDR	ORPHA:243
HP:0002795	Abnormal respiratory system physiology	56945	MRPS22	ORPHA:243
HP:0002795	Abnormal respiratory system physiology	646	BNC1	ORPHA:243
HP:0002795	Abnormal respiratory system physiology	4438	MSH4	ORPHA:243
HP:0002795	Abnormal respiratory system physiology	57187	THOC2	ORPHA:457240
HP:0002795	Abnormal respiratory system physiology	8516	ITGA8	ORPHA:1848
HP:0002795	Abnormal respiratory system physiology	26281	FGF20	ORPHA:1848
HP:0002795	Abnormal respiratory system physiology	7484	WNT9B	ORPHA:1848
HP:0002795	Abnormal respiratory system physiology	80000	GREB1L	ORPHA:1848
HP:0002795	Abnormal respiratory system physiology	6558	SLC12A2	OMIM:619083
HP:0002795	Abnormal respiratory system physiology	6299	SALL1	OMIM:107480
HP:0002795	Abnormal respiratory system physiology	55788	LMBRD1	OMIM:277380
HP:0002795	Abnormal respiratory system physiology	57466	SCAF4	OMIM:620511
HP:0002795	Abnormal respiratory system physiology	6657	SOX2	ORPHA:77298
HP:0002795	Abnormal respiratory system physiology	6657	SOX2	ORPHA:3157
HP:0002795	Abnormal respiratory system physiology	2177	FANCD2	OMIM:227646
HP:0002795	Abnormal respiratory system physiology	2177	FANCD2	ORPHA:84
HP:0002795	Abnormal respiratory system physiology	55120	FANCL	OMIM:614083
HP:0002795	Abnormal respiratory system physiology	55120	FANCL	ORPHA:84
HP:0002795	Abnormal respiratory system physiology	10606	PAICS	OMIM:619859
HP:0002795	Abnormal respiratory system physiology	7476	WNT7A	ORPHA:2879
HP:0002795	Abnormal respiratory system physiology	85459	CEP295	OMIM:620767
HP:0002795	Abnormal respiratory system physiology	672	BRCA1	ORPHA:84
HP:0002795	Abnormal respiratory system physiology	10459	MAD2L2	ORPHA:84
HP:0002795	Abnormal respiratory system physiology	7516	XRCC2	ORPHA:84
HP:0002795	Abnormal respiratory system physiology	29089	UBE2T	ORPHA:84
HP:0002795	Abnormal respiratory system physiology	2175	FANCA	ORPHA:84
HP:0002795	Abnormal respiratory system physiology	2176	FANCC	ORPHA:84
HP:0002795	Abnormal respiratory system physiology	2178	FANCE	ORPHA:84
HP:0002795	Abnormal respiratory system physiology	2189	FANCG	ORPHA:84
HP:0002795	Abnormal respiratory system physiology	5888	RAD51	ORPHA:84
HP:0002795	Abnormal respiratory system physiology	5889	RAD51C	ORPHA:84
HP:0002795	Abnormal respiratory system physiology	55159	RFWD3	ORPHA:84
HP:0002795	Abnormal respiratory system physiology	83990	BRIP1	ORPHA:84
HP:0002795	Abnormal respiratory system physiology	57697	FANCM	ORPHA:84
HP:0002795	Abnormal respiratory system physiology	79728	PALB2	ORPHA:84
HP:0002795	Abnormal respiratory system physiology	84464	SLX4	ORPHA:84
HP:0002795	Abnormal respiratory system physiology	2072	ERCC4	ORPHA:84
HP:0002795	Abnormal respiratory system physiology	55215	FANCI	ORPHA:84
HP:0002795	Abnormal respiratory system physiology	5422	POLA1	OMIM:301030
HP:0002795	Abnormal respiratory system physiology	51729	WBP11	OMIM:619227
HP:0002795	Abnormal respiratory system physiology	128674	PROKR2	ORPHA:3157
HP:0002795	Abnormal respiratory system physiology	6658	SOX3	ORPHA:3157
HP:0002795	Abnormal respiratory system physiology	9915	ARNT2	ORPHA:3157
HP:0002795	Abnormal respiratory system physiology	8820	HESX1	ORPHA:3157
HP:0002795	Abnormal respiratory system physiology	2201	FBN2	ORPHA:115
HP:0002795	Abnormal respiratory system physiology	2294	FOXF1	OMIM:265380
HP:0002795	Abnormal respiratory system physiology	5076	PAX2	ORPHA:97362
HP:0002795	Abnormal respiratory system physiology	199857	ALG14	OMIM:619036
HP:0002795	Abnormal respiratory system physiology	10059	DNM1L	OMIM:614388
HP:0002795	Abnormal respiratory system physiology	55627	SMPD4	OMIM:618622
HP:0002795	Abnormal respiratory system physiology	23417	MLYCD	OMIM:248360
HP:0002795	Abnormal respiratory system physiology	8854	ALDH1A2	OMIM:620025
HP:0002795	Abnormal respiratory system physiology	501	ALDH7A1	OMIM:266100
HP:0002795	Abnormal respiratory system physiology	501	ALDH7A1	ORPHA:3006
HP:0002795	Abnormal respiratory system physiology	6729	SRP54	OMIM:260400
HP:0002795	Abnormal respiratory system physiology	51119	SBDS	OMIM:260400
HP:0002795	Abnormal respiratory system physiology	134218	DNAJC21	OMIM:260400
HP:0002795	Abnormal respiratory system physiology	89910	UBE3B	OMIM:244450
HP:0002795	Abnormal respiratory system physiology	6616	SNAP25	OMIM:616330
HP:0002795	Abnormal respiratory system physiology	55790	CSGALNACT1	OMIM:618870
HP:0002795	Abnormal respiratory system physiology	4868	NPHS1	OMIM:256300
HP:0002795	Abnormal respiratory system physiology	1146	CHRNG	OMIM:265000
HP:0002795	Abnormal respiratory system physiology	1146	CHRNG	ORPHA:2990
HP:0002795	Abnormal respiratory system physiology	84987	COX14	OMIM:619053
HP:0002795	Abnormal respiratory system physiology	55906	ZC4H2	OMIM:314580
HP:0002795	Abnormal respiratory system physiology	165	AEBP1	OMIM:618000
HP:0002795	Abnormal respiratory system physiology	55037	PTCD3	OMIM:619057
HP:0002795	Abnormal respiratory system physiology	7994	KAT6A	ORPHA:457193
HP:0002795	Abnormal respiratory system physiology	7994	KAT6A	OMIM:616268
HP:0002795	Abnormal respiratory system physiology	51008	ASCC1	OMIM:616867
HP:0002795	Abnormal respiratory system physiology	64131	XYLT1	OMIM:615777
HP:0002795	Abnormal respiratory system physiology	9325	TRIP4	OMIM:616866
HP:0002795	Abnormal respiratory system physiology	9820	CUL7	OMIM:273750
HP:0002795	Abnormal respiratory system physiology	7490	WT1	OMIM:194080
HP:0002795	Abnormal respiratory system physiology	9361	LONP1	ORPHA:79243
HP:0002795	Abnormal respiratory system physiology	5160	PDHA1	ORPHA:79243
HP:0002795	Abnormal respiratory system physiology	1339	COX6A2	OMIM:619062
HP:0002795	Abnormal respiratory system physiology	860	RUNX2	OMIM:119600
HP:0002795	Abnormal respiratory system physiology	1760	DMPK	ORPHA:589821
HP:0002795	Abnormal respiratory system physiology	4905	NSF	OMIM:619340
HP:0002795	Abnormal respiratory system physiology	132158	GLYCTK	OMIM:220120
HP:0002795	Abnormal respiratory system physiology	5167	ENPP1	OMIM:208000
HP:0002795	Abnormal respiratory system physiology	5332	PLCB4	OMIM:620458
HP:0002795	Abnormal respiratory system physiology	2752	GLUL	OMIM:610015
HP:0002795	Abnormal respiratory system physiology	6628	SNRPB	OMIM:117650
HP:0002795	Abnormal respiratory system physiology	6628	SNRPB	ORPHA:1393
HP:0002795	Abnormal respiratory system physiology	57061	HYMAI	ORPHA:96191
HP:0002795	Abnormal respiratory system physiology	5325	PLAGL1	ORPHA:96191
HP:0002795	Abnormal respiratory system physiology	4576	MT-TT	ORPHA:254857
HP:0002795	Abnormal respiratory system physiology	1861	TOR1A	OMIM:618947
HP:0002795	Abnormal respiratory system physiology	8021	NUP214	OMIM:618426
HP:0002795	Abnormal respiratory system physiology	3675	ITGA3	OMIM:614748
HP:0002795	Abnormal respiratory system physiology	8405	SPOP	OMIM:618828
HP:0002795	Abnormal respiratory system physiology	5293	PIK3CD	ORPHA:221139
HP:0002795	Abnormal respiratory system physiology	90417	KNSTRN	ORPHA:221139
HP:0002795	Abnormal respiratory system physiology	145258	GSC	OMIM:602471
HP:0002795	Abnormal respiratory system physiology	8818	DPM2	OMIM:615042
HP:0002795	Abnormal respiratory system physiology	8567	MADD	OMIM:619004
HP:0002795	Abnormal respiratory system physiology	8567	MADD	OMIM:619005
HP:0002795	Abnormal respiratory system physiology	253959	RALGAPA1	OMIM:618797
HP:0002795	Abnormal respiratory system physiology	5205	ATP8B1	ORPHA:69665
HP:0002795	Abnormal respiratory system physiology	8647	ABCB11	ORPHA:69665
HP:0002795	Abnormal respiratory system physiology	5244	ABCB4	ORPHA:69665
HP:0002795	Abnormal respiratory system physiology	9971	NR1H4	ORPHA:69665
HP:0002795	Abnormal respiratory system physiology	1654	DDX3X	ORPHA:3338
HP:0002795	Abnormal respiratory system physiology	124583	CANT1	OMIM:251450
HP:0002795	Abnormal respiratory system physiology	5331	PLCB3	OMIM:618961
HP:0002795	Abnormal respiratory system physiology	5339	PLEC	OMIM:226670
HP:0002795	Abnormal respiratory system physiology	10463	SLC30A9	OMIM:617595
HP:0002795	Abnormal respiratory system physiology	4621	MYH3	ORPHA:2990
HP:0002795	Abnormal respiratory system physiology	171023	ASXL1	OMIM:605039
HP:0002795	Abnormal respiratory system physiology	2719	GPC3	OMIM:312870
HP:0002795	Abnormal respiratory system physiology	2239	GPC4	OMIM:312870
HP:0002795	Abnormal respiratory system physiology	29969	MDFIC	OMIM:620014
HP:0002795	Abnormal respiratory system physiology	257	ALX3	OMIM:136760
HP:0002795	Abnormal respiratory system physiology	257	ALX3	ORPHA:391474
HP:0002795	Abnormal respiratory system physiology	6424	SFRP4	OMIM:265900
HP:0002795	Abnormal respiratory system physiology	4359	MPZ	OMIM:618184
HP:0002795	Abnormal respiratory system physiology	2673	GFPT1	OMIM:608931
HP:0002795	Abnormal respiratory system physiology	4574	MT-TS1	OMIM:220110
HP:0002795	Abnormal respiratory system physiology	4574	MT-TS1	ORPHA:663
HP:0002795	Abnormal respiratory system physiology	4570	MT-TN	OMIM:220110
HP:0002795	Abnormal respiratory system physiology	4570	MT-TN	ORPHA:663
HP:0002795	Abnormal respiratory system physiology	6834	SURF1	OMIM:220110
HP:0002795	Abnormal respiratory system physiology	84334	COA8	ORPHA:436271
HP:0002795	Abnormal respiratory system physiology	1134	CHRNA1	OMIM:608930
HP:0002795	Abnormal respiratory system physiology	64419	MTMR14	ORPHA:169189
HP:0002795	Abnormal respiratory system physiology	4618	MYF6	ORPHA:169189
HP:0002795	Abnormal respiratory system physiology	4568	MT-TL2	ORPHA:663
HP:0002795	Abnormal respiratory system physiology	22880	MORC2	ORPHA:466768
HP:0002795	Abnormal respiratory system physiology	84197	POMK	OMIM:615249
HP:0002795	Abnormal respiratory system physiology	1272	CNTN1	OMIM:612540
HP:0002795	Abnormal respiratory system physiology	84876	ORAI1	OMIM:612782
HP:0002795	Abnormal respiratory system physiology	4358	MPV17	OMIM:256810
HP:0002795	Abnormal respiratory system physiology	80208	SPG11	OMIM:602099
HP:0002795	Abnormal respiratory system physiology	4151	MB	OMIM:620286
HP:0002795	Abnormal respiratory system physiology	779	CACNA1S	ORPHA:681
HP:0002795	Abnormal respiratory system physiology	10008	KCNE3	ORPHA:681
HP:0002795	Abnormal respiratory system physiology	127833	SYT2	OMIM:619461
HP:0002795	Abnormal respiratory system physiology	57449	PLEKHG5	OMIM:611067
HP:0002795	Abnormal respiratory system physiology	4632	MYL1	OMIM:618414
HP:0002795	Abnormal respiratory system physiology	353116	RILPL1	ORPHA:98897
HP:0002795	Abnormal respiratory system physiology	10755	GIPC1	ORPHA:98897
HP:0002795	Abnormal respiratory system physiology	100996717	NOTCH2NLC	ORPHA:98897
HP:0002795	Abnormal respiratory system physiology	9997	SCO2	OMIM:604377
HP:0002795	Abnormal respiratory system physiology	1103	CHAT	OMIM:254210
HP:0002795	Abnormal respiratory system physiology	1674	DES	OMIM:601419
HP:0002795	Abnormal respiratory system physiology	1674	DES	ORPHA:98909
HP:0002795	Abnormal respiratory system physiology	23287	AGTPBP1	OMIM:618276
HP:0002795	Abnormal respiratory system physiology	51244	CCDC174	OMIM:616816
HP:0002795	Abnormal respiratory system physiology	84665	MYPN	ORPHA:171439
HP:0002795	Abnormal respiratory system physiology	390594	KBTBD13	ORPHA:171439
HP:0002795	Abnormal respiratory system physiology	55681	SCYL2	ORPHA:1143
HP:0002795	Abnormal respiratory system physiology	84570	COL25A1	ORPHA:1143
HP:0002795	Abnormal respiratory system physiology	57222	ERGIC1	ORPHA:1143
HP:0002795	Abnormal respiratory system physiology	2010	EMD	ORPHA:98863
HP:0002795	Abnormal respiratory system physiology	23299	BICD2	OMIM:618291
HP:0002795	Abnormal respiratory system physiology	23676	SMPX	OMIM:301075
HP:0002795	Abnormal respiratory system physiology	9927	MFN2	OMIM:617087
HP:0002795	Abnormal respiratory system physiology	8803	SUCLA2	OMIM:612073
HP:0002795	Abnormal respiratory system physiology	51067	YARS2	OMIM:613561
HP:0002795	Abnormal respiratory system physiology	8291	DYSF	ORPHA:45448
HP:0002795	Abnormal respiratory system physiology	23534	TNPO3	OMIM:608423
HP:0002795	Abnormal respiratory system physiology	54808	DYM	ORPHA:239
HP:0002795	Abnormal respiratory system physiology	79188	TMEM43	ORPHA:98853
HP:0002795	Abnormal respiratory system physiology	23345	SYNE1	ORPHA:98853
HP:0002795	Abnormal respiratory system physiology	9719	ADAMTSL2	OMIM:231050
HP:0002795	Abnormal respiratory system physiology	8642	DCHS1	ORPHA:314679
HP:0002795	Abnormal respiratory system physiology	11146	GLMN	ORPHA:83454
HP:0002795	Abnormal respiratory system physiology	6125	RPL5	OMIM:612561
HP:0002795	Abnormal respiratory system physiology	80232	WDR26	ORPHA:513456
HP:0002795	Abnormal respiratory system physiology	58508	KMT2C	ORPHA:261652
HP:0002795	Abnormal respiratory system physiology	745	MYRF	OMIM:618280
HP:0002795	Abnormal respiratory system physiology	57688	ZSWIM6	ORPHA:1827
HP:0002795	Abnormal respiratory system physiology	57688	ZSWIM6	OMIM:603671
HP:0002795	Abnormal respiratory system physiology	10020	GNE	ORPHA:3166
HP:0002795	Abnormal respiratory system physiology	65992	DDRGK1	ORPHA:93352
HP:0002795	Abnormal respiratory system physiology	7512	XPNPEP2	ORPHA:100057
HP:0002795	Abnormal respiratory system physiology	10269	ZMPSTE24	ORPHA:740
HP:0002795	Abnormal respiratory system physiology	6452	SH3BP2	ORPHA:184
HP:0002795	Abnormal respiratory system physiology	5447	POR	OMIM:207410
HP:0002795	Abnormal respiratory system physiology	213	ALB	OMIM:616000
HP:0002795	Abnormal respiratory system physiology	213	ALB	ORPHA:86816
HP:0002795	Abnormal respiratory system physiology	57282	SLC4A10	OMIM:620746
HP:0002795	Abnormal respiratory system physiology	3932	LCK	OMIM:615758
HP:0002795	Abnormal respiratory system physiology	79759	ZNF668	OMIM:620194
HP:0002795	Abnormal respiratory system physiology	11151	CORO1A	OMIM:615401
HP:0002795	Abnormal respiratory system physiology	8547	FCN3	OMIM:613860
HP:0002795	Abnormal respiratory system physiology	10525	HYOU1	OMIM:233600
HP:0002795	Abnormal respiratory system physiology	4780	NFE2L2	OMIM:617744
HP:0002795	Abnormal respiratory system physiology	5591	PRKDC	OMIM:615966
HP:0002795	Abnormal respiratory system physiology	868	CBLB	OMIM:620430
HP:0002795	Abnormal respiratory system physiology	57609	DIP2B	OMIM:136630
HP:0002795	Abnormal respiratory system physiology	4718	NDUFC2	OMIM:619170
HP:0002795	Abnormal respiratory system physiology	3978	LIG1	OMIM:619774
HP:0002795	Abnormal respiratory system physiology	2530	FUT8	OMIM:618005
HP:0002795	Abnormal respiratory system physiology	6573	SLC19A1	OMIM:620603
HP:0002795	Abnormal respiratory system physiology	9020	MAP3K14	OMIM:620449
HP:0002795	Abnormal respiratory system physiology	50628	GEMIN4	OMIM:617913
HP:0002795	Abnormal respiratory system physiology	5718	PSMD12	OMIM:617516
HP:0002795	Abnormal respiratory system physiology	92344	GORAB	OMIM:231070
HP:0002795	Abnormal respiratory system physiology	4591	TRIM37	OMIM:253250
HP:0002795	Abnormal respiratory system physiology	7407	VARS1	OMIM:617802
HP:0002795	Abnormal respiratory system physiology	6304	SATB1	OMIM:619229
HP:0002795	Abnormal respiratory system physiology	222663	SCUBE3	OMIM:619184
HP:0002795	Abnormal respiratory system physiology	6448	SGSH	OMIM:252900
HP:0002795	Abnormal respiratory system physiology	84320	ACBD6	OMIM:620785
HP:0002795	Abnormal respiratory system physiology	3953	LEPR	OMIM:614963
HP:0002795	Abnormal respiratory system physiology	3953	LEPR	ORPHA:179494
HP:0002795	Abnormal respiratory system physiology	920	CD4	OMIM:619238
HP:0002795	Abnormal respiratory system physiology	3570	IL6R	OMIM:618944
HP:0002795	Abnormal respiratory system physiology	2799	GNS	OMIM:252940
HP:0002795	Abnormal respiratory system physiology	138050	HGSNAT	OMIM:252930
HP:0002795	Abnormal respiratory system physiology	7388	UQCRH	OMIM:620137
HP:0002795	Abnormal respiratory system physiology	4669	NAGLU	OMIM:252920
HP:0002795	Abnormal respiratory system physiology	435	ASL	ORPHA:23
HP:0002795	Abnormal respiratory system physiology	23129	PLXND1	ORPHA:3384
HP:0002795	Abnormal respiratory system physiology	763	CA5A	OMIM:615751
HP:0002795	Abnormal respiratory system physiology	5019	OXCT1	OMIM:245050
HP:0002795	Abnormal respiratory system physiology	162417	NAGS	OMIM:237310
HP:0002795	Abnormal respiratory system physiology	3141	HLCS	OMIM:253270
HP:0002795	Abnormal respiratory system physiology	3141	HLCS	ORPHA:79242
HP:0002795	Abnormal respiratory system physiology	10166	SLC25A15	ORPHA:415
HP:0002795	Abnormal respiratory system physiology	388753	COA6	OMIM:616501
HP:0002795	Abnormal respiratory system physiology	340061	STING1	OMIM:615934
HP:0002795	Abnormal respiratory system physiology	439	GET3	OMIM:620203
HP:0002795	Abnormal respiratory system physiology	59	ACTA2	OMIM:613834
HP:0002795	Abnormal respiratory system physiology	506	ATP5F1B	OMIM:620085
HP:0002795	Abnormal respiratory system physiology	51025	PAM16	OMIM:613320
HP:0002795	Abnormal respiratory system physiology	5826	ABCD4	OMIM:614857
HP:0002795	Abnormal respiratory system physiology	6005	RHAG	ORPHA:71275
HP:0002795	Abnormal respiratory system physiology	6006	RHCE	ORPHA:71275
HP:0002795	Abnormal respiratory system physiology	6007	RHD	ORPHA:71275
HP:0002795	Abnormal respiratory system physiology	100033413	SNORD116-1	OMIM:176270
HP:0002795	Abnormal respiratory system physiology	8924	HERC2	OMIM:176270
HP:0002795	Abnormal respiratory system physiology	23742	NPAP1	OMIM:176270
HP:0002795	Abnormal respiratory system physiology	338433	SNORD115-1	OMIM:176270
HP:0002795	Abnormal respiratory system physiology	7681	MKRN3	OMIM:176270
HP:0002795	Abnormal respiratory system physiology	145624	PWAR1	OMIM:176270
HP:0002795	Abnormal respiratory system physiology	3653	IPW	OMIM:176270
HP:0002795	Abnormal respiratory system physiology	791114	PWRN1	OMIM:176270
HP:0002795	Abnormal respiratory system physiology	54681	P4HTM	OMIM:618493
HP:0002795	Abnormal respiratory system physiology	1974	EIF4A2	OMIM:620455
HP:0002795	Abnormal respiratory system physiology	29072	SETD2	OMIM:620155
HP:0002795	Abnormal respiratory system physiology	1353	COX11	OMIM:620275
HP:0002795	Abnormal respiratory system physiology	729920	CRPPA	ORPHA:352479
HP:0002795	Abnormal respiratory system physiology	5147	PDE6D	ORPHA:475
HP:0002795	Abnormal respiratory system physiology	79600	TCTN1	ORPHA:475
HP:0002795	Abnormal respiratory system physiology	79848	CSPP1	ORPHA:475
HP:0002795	Abnormal respiratory system physiology	8481	OFD1	ORPHA:475
HP:0002795	Abnormal respiratory system physiology	54806	AHI1	ORPHA:475
HP:0002795	Abnormal respiratory system physiology	54806	AHI1	ORPHA:220493
HP:0002795	Abnormal respiratory system physiology	65250	CPLANE1	ORPHA:475
HP:0002795	Abnormal respiratory system physiology	91147	TMEM67	ORPHA:475
HP:0002795	Abnormal respiratory system physiology	91147	TMEM67	ORPHA:1454
HP:0002795	Abnormal respiratory system physiology	200894	ARL13B	ORPHA:475
HP:0002795	Abnormal respiratory system physiology	9731	CEP104	ORPHA:475
HP:0002795	Abnormal respiratory system physiology	219844	HYLS1	ORPHA:475
HP:0002795	Abnormal respiratory system physiology	23247	KATNIP	ORPHA:475
HP:0002795	Abnormal respiratory system physiology	219854	TMEM218	ORPHA:475
HP:0002795	Abnormal respiratory system physiology	95681	CEP41	ORPHA:475
HP:0002795	Abnormal respiratory system physiology	95681	CEP41	ORPHA:220493
HP:0002795	Abnormal respiratory system physiology	9786	KIAA0586	ORPHA:475
HP:0002795	Abnormal respiratory system physiology	56623	INPP5E	ORPHA:475
HP:0002795	Abnormal respiratory system physiology	56623	INPP5E	ORPHA:1454
HP:0002795	Abnormal respiratory system physiology	56623	INPP5E	ORPHA:220493
HP:0002795	Abnormal respiratory system physiology	26123	TCTN3	ORPHA:475
HP:0002795	Abnormal respiratory system physiology	79867	TCTN2	ORPHA:475
HP:0002795	Abnormal respiratory system physiology	80776	B9D2	ORPHA:475
HP:0002795	Abnormal respiratory system physiology	10464	PIBF1	ORPHA:475
HP:0002795	Abnormal respiratory system physiology	80210	ARMC9	ORPHA:475
HP:0002795	Abnormal respiratory system physiology	23116	TOGARAM1	ORPHA:475
HP:0002795	Abnormal respiratory system physiology	25776	CBY1	ORPHA:475
HP:0002795	Abnormal respiratory system physiology	27077	B9D1	ORPHA:475
HP:0002795	Abnormal respiratory system physiology	403	ARL3	ORPHA:475
HP:0002795	Abnormal respiratory system physiology	65062	TMEM237	ORPHA:475
HP:0002795	Abnormal respiratory system physiology	65062	TMEM237	ORPHA:220497
HP:0002795	Abnormal respiratory system physiology	7259	TSPYL1	ORPHA:168593
HP:0002795	Abnormal respiratory system physiology	7259	TSPYL1	OMIM:608800
HP:0002795	Abnormal respiratory system physiology	4487	MSX1	ORPHA:141291
HP:0002795	Abnormal respiratory system physiology	5818	NECTIN1	ORPHA:141291
HP:0002795	Abnormal respiratory system physiology	8626	TP63	ORPHA:141291
HP:0002795	Abnormal respiratory system physiology	3664	IRF6	ORPHA:141291
HP:0002795	Abnormal respiratory system physiology	10735	STAG2	ORPHA:220386
HP:0002795	Abnormal respiratory system physiology	10735	STAG2	ORPHA:93925
HP:0002795	Abnormal respiratory system physiology	8243	SMC1A	ORPHA:220386
HP:0002795	Abnormal respiratory system physiology	8243	SMC1A	ORPHA:3095
HP:0002795	Abnormal respiratory system physiology	6491	STIL	ORPHA:220386
HP:0002795	Abnormal respiratory system physiology	6491	STIL	ORPHA:93926
HP:0002795	Abnormal respiratory system physiology	6491	STIL	ORPHA:93924
HP:0002795	Abnormal respiratory system physiology	6491	STIL	ORPHA:93925
HP:0002795	Abnormal respiratory system physiology	2767	GNA11	ORPHA:428
HP:0002795	Abnormal respiratory system physiology	846	CASR	ORPHA:428
HP:0002795	Abnormal respiratory system physiology	6925	TCF4	ORPHA:2896
HP:0002795	Abnormal respiratory system physiology	6792	CDKL5	ORPHA:3095
HP:0002795	Abnormal respiratory system physiology	22854	NTNG1	ORPHA:3095
HP:0002795	Abnormal respiratory system physiology	9568	GABBR2	ORPHA:3095
HP:0002795	Abnormal respiratory system physiology	5903	RANBP2	ORPHA:88619
HP:0002795	Abnormal respiratory system physiology	2629	GBA1	ORPHA:77260
HP:0002795	Abnormal respiratory system physiology	27161	AGO2	OMIM:619149
HP:0002795	Abnormal respiratory system physiology	23322	RPGRIP1L	ORPHA:220497
HP:0002795	Abnormal respiratory system physiology	23322	RPGRIP1L	ORPHA:1454
HP:0002795	Abnormal respiratory system physiology	57545	CC2D2A	ORPHA:1454
HP:0002795	Abnormal respiratory system physiology	23007	PLCH1	ORPHA:93925
HP:0002795	Abnormal respiratory system physiology	9499	MYOT	ORPHA:266
HP:0002795	Abnormal respiratory system physiology	3115	HLA-DPB1	ORPHA:133
HP:0002795	Abnormal respiratory system physiology	6888	TALDO1	ORPHA:101028
HP:0002795	Abnormal respiratory system physiology	6340	SCNN1G	ORPHA:60033
HP:0002795	Abnormal respiratory system physiology	1080	CFTR	ORPHA:60033
HP:0002795	Abnormal respiratory system physiology	6337	SCNN1A	ORPHA:60033
HP:0002795	Abnormal respiratory system physiology	6338	SCNN1B	ORPHA:60033
HP:0002795	Abnormal respiratory system physiology	6261	RYR1	ORPHA:98905
HP:0002795	Abnormal respiratory system physiology	6261	RYR1	ORPHA:324581
HP:0002795	Abnormal respiratory system physiology	176	ACAN	ORPHA:171866
HP:0002795	Abnormal respiratory system physiology	1280	COL2A1	ORPHA:94068
HP:0002795	Abnormal respiratory system physiology	1280	COL2A1	ORPHA:93346
HP:0002795	Abnormal respiratory system physiology	7092	TLL1	ORPHA:99106
HP:0002795	Abnormal respiratory system physiology	8314	BAP1	ORPHA:50251
HP:0002795	Abnormal respiratory system physiology	23394	ADNP	ORPHA:404448
HP:0002795	Abnormal respiratory system physiology	25885	POLR1A	OMIM:616462
HP:0002795	Abnormal respiratory system physiology	8260	NAA10	OMIM:300855
HP:0002795	Abnormal respiratory system physiology	9782	MATR3	OMIM:606070
HP:0002795	Abnormal respiratory system physiology	9782	MATR3	ORPHA:600
HP:0002795	Abnormal respiratory system physiology	2290	FOXG1	OMIM:613454
HP:0002795	Abnormal respiratory system physiology	23219	FBXO28	OMIM:619777
HP:0002795	Abnormal respiratory system physiology	2917	GRM7	OMIM:618922
HP:0002795	Abnormal respiratory system physiology	773	CACNA1A	ORPHA:2131
HP:0002795	Abnormal respiratory system physiology	6507	SLC1A3	ORPHA:2131
HP:0002795	Abnormal respiratory system physiology	477	ATP1A2	ORPHA:2131
HP:0002795	Abnormal respiratory system physiology	478	ATP1A3	ORPHA:2131
HP:0002795	Abnormal respiratory system physiology	9289	ADGRG1	ORPHA:98889
HP:0002795	Abnormal respiratory system physiology	5297	PI4KA	ORPHA:98889
HP:0002795	Abnormal respiratory system physiology	27286	SRPX2	ORPHA:98889
HP:0002795	Abnormal respiratory system physiology	29967	LRP12	OMIM:164310
HP:0002795	Abnormal respiratory system physiology	22845	DOLK	OMIM:610768
HP:0002795	Abnormal respiratory system physiology	3073	HEXA	OMIM:272800
HP:0002795	Abnormal respiratory system physiology	724066	ATXN8	ORPHA:98760
HP:0002795	Abnormal respiratory system physiology	6315	ATXN8OS	ORPHA:98760
HP:0002795	Abnormal respiratory system physiology	2887	GRB10	ORPHA:96182
HP:0002795	Abnormal respiratory system physiology	4281	MID1	OMIM:300000
HP:0002795	Abnormal respiratory system physiology	22872	SEC31A	OMIM:618651
HP:0002795	Abnormal respiratory system physiology	64801	ARV1	OMIM:617020
HP:0002795	Abnormal respiratory system physiology	5277	PIGA	OMIM:300868
HP:0002795	Abnormal respiratory system physiology	667	DST	OMIM:614653
HP:0002795	Abnormal respiratory system physiology	1641	DCX	ORPHA:2148
HP:0002795	Abnormal respiratory system physiology	10243	GPHN	OMIM:149400
HP:0002795	Abnormal respiratory system physiology	2741	GLRA1	OMIM:149400
HP:0002795	Abnormal respiratory system physiology	8449	DHX16	OMIM:618733
HP:0002795	Abnormal respiratory system physiology	2760	GM2A	OMIM:272750
HP:0002795	Abnormal respiratory system physiology	83844	USP26	OMIM:301101
HP:0002795	Abnormal respiratory system physiology	3588	IL10RB	OMIM:612567
HP:0002795	Abnormal respiratory system physiology	4692	NDN	ORPHA:177904
HP:0002795	Abnormal respiratory system physiology	4692	NDN	ORPHA:177901
HP:0002795	Abnormal respiratory system physiology	4692	NDN	ORPHA:98754
HP:0002795	Abnormal respiratory system physiology	4948	OCA2	ORPHA:177904
HP:0002795	Abnormal respiratory system physiology	4948	OCA2	ORPHA:177901
HP:0002795	Abnormal respiratory system physiology	4948	OCA2	ORPHA:98754
HP:0002795	Abnormal respiratory system physiology	9895	TECPR2	ORPHA:320385
HP:0002795	Abnormal respiratory system physiology	9895	TECPR2	OMIM:615031
HP:0002795	Abnormal respiratory system physiology	54902	TTC19	OMIM:615157
HP:0002795	Abnormal respiratory system physiology	4929	NR4A2	ORPHA:1617
HP:0002795	Abnormal respiratory system physiology	10716	TBR1	ORPHA:1617
HP:0002795	Abnormal respiratory system physiology	26834	RNU4-2	OMIM:620851
HP:0002795	Abnormal respiratory system physiology	10019	SH2B3	OMIM:133100
HP:0002795	Abnormal respiratory system physiology	10486	CAP2	ORPHA:154
HP:0002795	Abnormal respiratory system physiology	7716	VEZF1	ORPHA:154
HP:0002795	Abnormal respiratory system physiology	7168	TPM1	ORPHA:154
HP:0002795	Abnormal respiratory system physiology	27063	ANKRD1	ORPHA:154
HP:0002795	Abnormal respiratory system physiology	5350	PLN	ORPHA:154
HP:0002795	Abnormal respiratory system physiology	5664	PSEN2	ORPHA:154
HP:0002795	Abnormal respiratory system physiology	9529	BAG5	ORPHA:154
HP:0002795	Abnormal respiratory system physiology	11155	LDB3	ORPHA:154
HP:0002795	Abnormal respiratory system physiology	2274	FHL2	ORPHA:154
HP:0002795	Abnormal respiratory system physiology	442721	LMOD2	ORPHA:154
HP:0002795	Abnormal respiratory system physiology	8557	TCAP	ORPHA:154
HP:0002795	Abnormal respiratory system physiology	9015	TAF1A	ORPHA:154
HP:0002795	Abnormal respiratory system physiology	5663	PSEN1	ORPHA:154
HP:0002795	Abnormal respiratory system physiology	7112	TMPO	ORPHA:154
HP:0002795	Abnormal respiratory system physiology	9464	HAND2	ORPHA:154
HP:0002795	Abnormal respiratory system physiology	7414	VCL	ORPHA:154
HP:0002795	Abnormal respiratory system physiology	7414	VCL	OMIM:613255
HP:0002795	Abnormal respiratory system physiology	6123	RPL3L	ORPHA:154
HP:0002795	Abnormal respiratory system physiology	8048	CSRP3	ORPHA:154
HP:0002795	Abnormal respiratory system physiology	3910	LAMA4	ORPHA:154
HP:0002795	Abnormal respiratory system physiology	63976	PRDM16	ORPHA:154
HP:0002795	Abnormal respiratory system physiology	10587	TXNRD2	ORPHA:154
HP:0002795	Abnormal respiratory system physiology	91624	NEXN	ORPHA:154
HP:0002795	Abnormal respiratory system physiology	79717	PPCS	ORPHA:154
HP:0002795	Abnormal respiratory system physiology	282996	RBM20	ORPHA:154
HP:0002795	Abnormal respiratory system physiology	6901	TAFAZZIN	ORPHA:154
HP:0002795	Abnormal respiratory system physiology	5894	RAF1	ORPHA:154
HP:0002795	Abnormal respiratory system physiology	57798	GATAD1	ORPHA:154
HP:0002795	Abnormal respiratory system physiology	6444	SGCD	ORPHA:154
HP:0002795	Abnormal respiratory system physiology	1727	CYB5R3	OMIM:250800
HP:0002795	Abnormal respiratory system physiology	1727	CYB5R3	ORPHA:621
HP:0002795	Abnormal respiratory system physiology	1528	CYB5A	ORPHA:621
HP:0002795	Abnormal respiratory system physiology	34	ACADM	ORPHA:42
HP:0002795	Abnormal respiratory system physiology	79572	ATP13A3	OMIM:265400
HP:0002795	Abnormal respiratory system physiology	4634	MYL3	OMIM:608751
HP:0002795	Abnormal respiratory system physiology	5837	PYGM	ORPHA:368
HP:0002795	Abnormal respiratory system physiology	2992	GYG1	ORPHA:263297
HP:0002795	Abnormal respiratory system physiology	7046	TGFBR1	ORPHA:91387
HP:0002795	Abnormal respiratory system physiology	4015	LOX	ORPHA:91387
HP:0002795	Abnormal respiratory system physiology	4087	SMAD2	ORPHA:91387
HP:0002795	Abnormal respiratory system physiology	7043	TGFB3	ORPHA:91387
HP:0002795	Abnormal respiratory system physiology	4088	SMAD3	ORPHA:91387
HP:0002795	Abnormal respiratory system physiology	7042	TGFB2	ORPHA:91387
HP:0002795	Abnormal respiratory system physiology	5592	PRKG1	ORPHA:91387
HP:0002795	Abnormal respiratory system physiology	2301	FOXE3	ORPHA:91387
HP:0002795	Abnormal respiratory system physiology	4144	MAT2A	ORPHA:91387
HP:0002795	Abnormal respiratory system physiology	23493	HEY2	ORPHA:91387
HP:0002795	Abnormal respiratory system physiology	8076	MFAP5	ORPHA:91387
HP:0002795	Abnormal respiratory system physiology	4638	MYLK	ORPHA:91387
HP:0002795	Abnormal respiratory system physiology	7385	UQCRC2	OMIM:615160
HP:0002795	Abnormal respiratory system physiology	3190	HNRNPK	ORPHA:453504
HP:0002795	Abnormal respiratory system physiology	3190	HNRNPK	ORPHA:352665
HP:0002795	Abnormal respiratory system physiology	3728	JUP	ORPHA:158687
HP:0002795	Abnormal respiratory system physiology	28981	IFT81	OMIM:617895
HP:0002795	Abnormal respiratory system physiology	81570	CLPB	ORPHA:445038
HP:0002795	Abnormal respiratory system physiology	1303	COL12A1	ORPHA:75840
HP:0002795	Abnormal respiratory system physiology	1292	COL6A2	ORPHA:75840
HP:0002795	Abnormal respiratory system physiology	1292	COL6A2	OMIM:620727
HP:0002795	Abnormal respiratory system physiology	1293	COL6A3	ORPHA:75840
HP:0002795	Abnormal respiratory system physiology	3909	LAMA3	ORPHA:79404
HP:0002795	Abnormal respiratory system physiology	3918	LAMC2	ORPHA:79404
HP:0002795	Abnormal respiratory system physiology	3914	LAMB3	ORPHA:79404
HP:0002795	Abnormal respiratory system physiology	26580	BSCL2	ORPHA:363400
HP:0002795	Abnormal respiratory system physiology	283989	TSEN54	OMIM:225753
HP:0002795	Abnormal respiratory system physiology	388015	RTL1	ORPHA:254528
HP:0002795	Abnormal respiratory system physiology	388015	RTL1	ORPHA:96334
HP:0002795	Abnormal respiratory system physiology	8788	DLK1	ORPHA:254528
HP:0002795	Abnormal respiratory system physiology	8788	DLK1	ORPHA:96334
HP:0002795	Abnormal respiratory system physiology	55384	MEG3	ORPHA:254528
HP:0002795	Abnormal respiratory system physiology	55384	MEG3	ORPHA:96334
HP:0002795	Abnormal respiratory system physiology	6536	SLC6A9	OMIM:617301
HP:0002795	Abnormal respiratory system physiology	131377	KLHL40	ORPHA:171430
HP:0002795	Abnormal respiratory system physiology	131377	KLHL40	OMIM:615348
HP:0002795	Abnormal respiratory system physiology	101060691	NUTM2B-AS1	OMIM:618637
HP:0002795	Abnormal respiratory system physiology	1841	DTYMK	OMIM:619847
HP:0002795	Abnormal respiratory system physiology	54931	TRMT10C	OMIM:616974
HP:0002795	Abnormal respiratory system physiology	341640	FREM2	OMIM:617666
HP:0002795	Abnormal respiratory system physiology	3508	IGHMBP2	OMIM:604320
HP:0002795	Abnormal respiratory system physiology	275	AMT	OMIM:620398
HP:0002795	Abnormal respiratory system physiology	3735	KARS1	ORPHA:3240
HP:0002795	Abnormal respiratory system physiology	23511	NUP188	OMIM:618804
HP:0002795	Abnormal respiratory system physiology	11080	DNAJB4	OMIM:620326
HP:0002795	Abnormal respiratory system physiology	91137	SLC25A46	OMIM:616505
HP:0002795	Abnormal respiratory system physiology	91137	SLC25A46	ORPHA:2254
HP:0002795	Abnormal respiratory system physiology	400569	MED11	OMIM:620327
HP:0002795	Abnormal respiratory system physiology	9570	GOSR2	OMIM:620166
HP:0002795	Abnormal respiratory system physiology	81620	CDT1	ORPHA:2554
HP:0002795	Abnormal respiratory system physiology	5000	ORC4	ORPHA:2554
HP:0002795	Abnormal respiratory system physiology	23594	ORC6	ORPHA:2554
HP:0002795	Abnormal respiratory system physiology	8318	CDC45	ORPHA:2554
HP:0002795	Abnormal respiratory system physiology	990	CDC6	ORPHA:2554
HP:0002795	Abnormal respiratory system physiology	4998	ORC1	ORPHA:2554
HP:0002795	Abnormal respiratory system physiology	51053	GMNN	ORPHA:2554
HP:0002795	Abnormal respiratory system physiology	1349	COX7B	ORPHA:2556
HP:0002795	Abnormal respiratory system physiology	3052	HCCS	ORPHA:2556
HP:0002795	Abnormal respiratory system physiology	4547	MTTP	ORPHA:14
HP:0002795	Abnormal respiratory system physiology	5354	PLP1	ORPHA:280210
HP:0002795	Abnormal respiratory system physiology	191	AHCY	ORPHA:88618
HP:0002795	Abnormal respiratory system physiology	4714	NDUFB8	OMIM:618252
HP:0002795	Abnormal respiratory system physiology	84896	ATAD1	OMIM:618011
HP:0002795	Abnormal respiratory system physiology	4548	MTR	OMIM:250940
HP:0002795	Abnormal respiratory system physiology	3055	HCK	OMIM:620296
HP:0002795	Abnormal respiratory system physiology	90624	LYRM7	OMIM:615838
HP:0002795	Abnormal respiratory system physiology	81031	SLC2A10	ORPHA:3342
HP:0002795	Abnormal respiratory system physiology	10128	LRPPRC	ORPHA:70472
HP:0002795	Abnormal respiratory system physiology	56052	ALG1	ORPHA:79327
HP:0002795	Abnormal respiratory system physiology	128240	NAXE	OMIM:617186
HP:0002795	Abnormal respiratory system physiology	2674	GFRA1	OMIM:619887
HP:0002795	Abnormal respiratory system physiology	1605	DAG1	OMIM:616538
HP:0002795	Abnormal respiratory system physiology	7284	TUFM	OMIM:610678
HP:0002795	Abnormal respiratory system physiology	2065	ERBB3	OMIM:607598
HP:0002795	Abnormal respiratory system physiology	4038	LRP4	ORPHA:98913
HP:0002795	Abnormal respiratory system physiology	221264	AK9	ORPHA:98913
HP:0002795	Abnormal respiratory system physiology	199221	DZIP1L	ORPHA:731
HP:0002795	Abnormal respiratory system physiology	5314	PKHD1	ORPHA:731
HP:0002795	Abnormal respiratory system physiology	56975	FAM20C	ORPHA:1832
HP:0002795	Abnormal respiratory system physiology	6310	ATXN1	ORPHA:98755
HP:0002795	Abnormal respiratory system physiology	590	BCHE	ORPHA:132
HP:0002795	Abnormal respiratory system physiology	64135	IFIH1	OMIM:619773
HP:0002795	Abnormal respiratory system physiology	6651	SON	ORPHA:500150
HP:0002795	Abnormal respiratory system physiology	3458	IFNG	ORPHA:805
HP:0002795	Abnormal respiratory system physiology	55005	RMND1	OMIM:614922
HP:0002795	Abnormal respiratory system physiology	2624	GATA2	ORPHA:228423
HP:0002795	Abnormal respiratory system physiology	4683	NBN	ORPHA:647
HP:0002795	Abnormal respiratory system physiology	2581	GALC	ORPHA:206436
HP:0002795	Abnormal respiratory system physiology	28962	OSTM1	OMIM:259720
HP:0002795	Abnormal respiratory system physiology	1892	ECHS1	OMIM:616277
HP:0002795	Abnormal respiratory system physiology	115286	SLC25A26	OMIM:616794
HP:0002795	Abnormal respiratory system physiology	9054	NFS1	OMIM:619386
HP:0002795	Abnormal respiratory system physiology	27429	HTRA2	OMIM:617248
HP:0002795	Abnormal respiratory system physiology	132001	TAMM41	OMIM:620139
HP:0002795	Abnormal respiratory system physiology	165918	RNF168	ORPHA:420741
HP:0002795	Abnormal respiratory system physiology	84705	GTPBP3	ORPHA:444013
HP:0002795	Abnormal respiratory system physiology	4054	LTBP3	OMIM:617809
HP:0002795	Abnormal respiratory system physiology	64116	SLC39A8	ORPHA:468699
HP:0002795	Abnormal respiratory system physiology	10667	FARS2	ORPHA:466722
HP:0002795	Abnormal respiratory system physiology	25792	CIZ1	ORPHA:420492
HP:0002795	Abnormal respiratory system physiology	6513	SLC2A1	ORPHA:64280
HP:0002795	Abnormal respiratory system physiology	2562	GABRB3	ORPHA:64280
HP:0002795	Abnormal respiratory system physiology	2554	GABRA1	ORPHA:64280
HP:0002795	Abnormal respiratory system physiology	8912	CACNA1H	ORPHA:64280
HP:0002795	Abnormal respiratory system physiology	8629	JRK	ORPHA:64280
HP:0002795	Abnormal respiratory system physiology	2566	GABRG2	ORPHA:64280
HP:0002795	Abnormal respiratory system physiology	26047	CNTNAP2	OMIM:610042
HP:0002795	Abnormal respiratory system physiology	9378	NRXN1	OMIM:614325
HP:0002795	Abnormal respiratory system physiology	11011	TLK2	OMIM:618050
HP:0002795	Abnormal respiratory system physiology	1137	CHRNA4	ORPHA:98784
HP:0002795	Abnormal respiratory system physiology	1135	CHRNA2	ORPHA:98784
HP:0002795	Abnormal respiratory system physiology	57010	CABP4	ORPHA:98784
HP:0002795	Abnormal respiratory system physiology	1141	CHRNB2	ORPHA:98784
HP:0002795	Abnormal respiratory system physiology	57582	KCNT1	ORPHA:98784
HP:0002795	Abnormal respiratory system physiology	1392	CRH	ORPHA:98784
HP:0002795	Abnormal respiratory system physiology	9681	DEPDC5	ORPHA:98784
HP:0002795	Abnormal respiratory system physiology	6857	SYT1	ORPHA:522077
HP:0002795	Abnormal respiratory system physiology	7386	UQCRFS1	OMIM:618775
HP:0002795	Abnormal respiratory system physiology	4633	MYL2	ORPHA:2020
HP:0002795	Abnormal respiratory system physiology	3679	ITGA7	ORPHA:2020
HP:0002795	Abnormal respiratory system physiology	9200	HACD1	ORPHA:2020
HP:0002795	Abnormal respiratory system physiology	51776	MAP3K20	ORPHA:2020
HP:0002795	Abnormal respiratory system physiology	3178	HNRNPA1	ORPHA:52430
HP:0002795	Abnormal respiratory system physiology	7415	VCP	ORPHA:52430
HP:0002795	Abnormal respiratory system physiology	9839	ZEB2	ORPHA:261537
HP:0002795	Abnormal respiratory system physiology	9839	ZEB2	ORPHA:261552
HP:0002795	Abnormal respiratory system physiology	4286	MITF	ORPHA:895
HP:0002795	Abnormal respiratory system physiology	7299	TYR	ORPHA:895
HP:0002795	Abnormal respiratory system physiology	6591	SNAI2	ORPHA:895
HP:0002795	Abnormal respiratory system physiology	1910	EDNRB	ORPHA:895
HP:0002795	Abnormal respiratory system physiology	4254	KITLG	ORPHA:895
HP:0002795	Abnormal respiratory system physiology	6663	SOX10	ORPHA:895
HP:0002795	Abnormal respiratory system physiology	145173	B3GLCT	ORPHA:709
HP:0002795	Abnormal respiratory system physiology	5080	PAX6	ORPHA:1065
HP:0002795	Abnormal respiratory system physiology	3708	ITPR1	ORPHA:1065
HP:0002795	Abnormal respiratory system physiology	5781	PTPN11	ORPHA:500
HP:0002795	Abnormal respiratory system physiology	10082	GPC6	OMIM:258315
HP:0002795	Abnormal respiratory system physiology	9487	PIGL	OMIM:280000
HP:0002795	Abnormal respiratory system physiology	22800	RRAS2	ORPHA:648
HP:0002795	Abnormal respiratory system physiology	6237	RRAS	ORPHA:648
HP:0002795	Abnormal respiratory system physiology	22808	MRAS	ORPHA:648
HP:0002795	Abnormal respiratory system physiology	200734	SPRED2	ORPHA:648
HP:0002795	Abnormal respiratory system physiology	6654	SOS1	ORPHA:648
HP:0002795	Abnormal respiratory system physiology	6655	SOS2	ORPHA:648
HP:0002795	Abnormal respiratory system physiology	5922	RASA2	ORPHA:648
HP:0002795	Abnormal respiratory system physiology	92002	CCNQ	ORPHA:140952
HP:0002795	Abnormal respiratory system physiology	26146	TRAF3IP1	OMIM:616629
HP:0002795	Abnormal respiratory system physiology	9509	ADAMTS2	OMIM:225410
HP:0002795	Abnormal respiratory system physiology	8573	CASK	OMIM:300749
HP:0002795	Abnormal respiratory system physiology	79158	GNPTAB	ORPHA:576
HP:0002795	Abnormal respiratory system physiology	4629	MYH11	OMIM:619351
HP:0002795	Abnormal respiratory system physiology	5631	PRPS1	ORPHA:1187
HP:0002795	Abnormal respiratory system physiology	2653	GCSH	OMIM:620423
HP:0002795	Abnormal respiratory system physiology	4556	MT-TE	ORPHA:254864
HP:0002795	Abnormal respiratory system physiology	55687	TRMU	ORPHA:254864
HP:0002795	Abnormal respiratory system physiology	84842	HPDL	OMIM:619026
HP:0002795	Abnormal respiratory system physiology	27245	AHDC1	ORPHA:412069
HP:0002795	Abnormal respiratory system physiology	1806	DPYD	ORPHA:1675
HP:0002795	Abnormal respiratory system physiology	79736	TEFM	OMIM:620451
HP:0002795	Abnormal respiratory system physiology	7187	TRAF3	ORPHA:1930
HP:0002795	Abnormal respiratory system physiology	81622	UNC93B1	ORPHA:1930
HP:0002795	Abnormal respiratory system physiology	148022	TICAM1	ORPHA:1930
HP:0002795	Abnormal respiratory system physiology	7098	TLR3	ORPHA:1930
HP:0002795	Abnormal respiratory system physiology	3777	KCNK3	OMIM:615344
HP:0002795	Abnormal respiratory system physiology	144811	LACC1	ORPHA:85414
HP:0002795	Abnormal respiratory system physiology	3569	IL6	ORPHA:85414
HP:0002795	Abnormal respiratory system physiology	57731	SPTBN4	OMIM:617519
HP:0002795	Abnormal respiratory system physiology	171019	ADAMTS19	OMIM:620067
HP:0002795	Abnormal respiratory system physiology	2303	FOXC2	ORPHA:33001
HP:0002795	Abnormal respiratory system physiology	64840	PORCN	ORPHA:2092
HP:0002795	Abnormal respiratory system physiology	5337	PLD1	OMIM:212093
HP:0002795	Abnormal respiratory system physiology	78987	CRELD1	OMIM:606217
HP:0002795	Abnormal respiratory system physiology	2324	FLT4	OMIM:618780
HP:0002795	Abnormal respiratory system physiology	93	ACVR2B	OMIM:613751
HP:0002795	Abnormal respiratory system physiology	23476	BRD4	OMIM:620568
HP:0002795	Abnormal respiratory system physiology	118856	MMP21	OMIM:616749
HP:0002795	Abnormal respiratory system physiology	8772	FADD	OMIM:613759
HP:0002795	Abnormal respiratory system physiology	8772	FADD	ORPHA:306550
HP:0002795	Abnormal respiratory system physiology	55593	OTUD5	OMIM:301056
HP:0002795	Abnormal respiratory system physiology	1857	DVL3	OMIM:616894
HP:0002795	Abnormal respiratory system physiology	168507	PKD1L1	OMIM:617205
HP:0002795	Abnormal respiratory system physiology	100128908	CIROP	OMIM:619702
HP:0002795	Abnormal respiratory system physiology	118924	FRA10AC1	OMIM:620113
HP:0002795	Abnormal respiratory system physiology	633	BGN	OMIM:300989
HP:0002795	Abnormal respiratory system physiology	10491	CRTAP	OMIM:610682
HP:0002795	Abnormal respiratory system physiology	55181	SMG8	OMIM:619268
HP:0002795	Abnormal respiratory system physiology	84720	PIGO	OMIM:614749
HP:0002795	Abnormal respiratory system physiology	112752	IFT43	OMIM:614099
HP:0002795	Abnormal respiratory system physiology	9652	SKIC3	ORPHA:84064
HP:0002795	Abnormal respiratory system physiology	6499	SKIC2	ORPHA:84064
HP:0002795	Abnormal respiratory system physiology	5500	PPP1CB	OMIM:617506
HP:0002795	Abnormal respiratory system physiology	51085	MLXIPL	OMIM:194050
HP:0002795	Abnormal respiratory system physiology	6210	RPS15A	OMIM:618313
HP:0002795	Abnormal respiratory system physiology	123606	NIPA1	ORPHA:261183
HP:0002795	Abnormal respiratory system physiology	7283	TUBG1	ORPHA:261183
HP:0002795	Abnormal respiratory system physiology	81614	NIPA2	ORPHA:261183
HP:0002795	Abnormal respiratory system physiology	998	CDC42	ORPHA:487796
HP:0002795	Abnormal respiratory system physiology	220136	CFAP53	OMIM:614779
HP:0002795	Abnormal respiratory system physiology	4093	SMAD9	OMIM:615342
HP:0002795	Abnormal respiratory system physiology	406932	MIR140	OMIM:618618
HP:0002795	Abnormal respiratory system physiology	2255	FGF10	ORPHA:2363
HP:0002795	Abnormal respiratory system physiology	51135	IRAK4	ORPHA:70592
HP:0002795	Abnormal respiratory system physiology	7037	TFRC	OMIM:616740
HP:0002795	Abnormal respiratory system physiology	56259	CTNNBL1	OMIM:619846
HP:0002795	Abnormal respiratory system physiology	9526	MPDU1	ORPHA:79323
HP:0002795	Abnormal respiratory system physiology	2314	FLII	ORPHA:819
HP:0002795	Abnormal respiratory system physiology	23096	IQSEC2	ORPHA:819
HP:0002795	Abnormal respiratory system physiology	10743	RAI1	ORPHA:819
HP:0002795	Abnormal respiratory system physiology	10743	RAI1	OMIM:182290
HP:0002795	Abnormal respiratory system physiology	10522	DEAF1	ORPHA:819
HP:0002795	Abnormal respiratory system physiology	60482	SLC5A7	ORPHA:98914
HP:0002795	Abnormal respiratory system physiology	6843	VAMP1	ORPHA:98914
HP:0002795	Abnormal respiratory system physiology	123263	MTFMT	OMIM:614947
HP:0002795	Abnormal respiratory system physiology	9152	SLC6A5	OMIM:614618
HP:0002795	Abnormal respiratory system physiology	37	ACADVL	OMIM:201475
HP:0002795	Abnormal respiratory system physiology	3899	AFF3	OMIM:619297
HP:0002795	Abnormal respiratory system physiology	8518	ELP1	OMIM:223900
HP:0002795	Abnormal respiratory system physiology	8565	YARS1	OMIM:619418
HP:0002795	Abnormal respiratory system physiology	729230	CCR2	OMIM:219600
HP:0002795	Abnormal respiratory system physiology	2258	FGF13	OMIM:301058
HP:0002795	Abnormal respiratory system physiology	112939	NACC1	ORPHA:500545
HP:0002795	Abnormal respiratory system physiology	36	ACADSB	OMIM:610006
HP:0002795	Abnormal respiratory system physiology	8398	PLA2G6	ORPHA:35069
HP:0002795	Abnormal respiratory system physiology	7428	VHL	OMIM:193300
HP:0002795	Abnormal respiratory system physiology	57057	TBX20	ORPHA:99103
HP:0002795	Abnormal respiratory system physiology	4624	MYH6	ORPHA:99103
HP:0002795	Abnormal respiratory system physiology	1482	NKX2-5	ORPHA:99103
HP:0002795	Abnormal respiratory system physiology	70	ACTC1	ORPHA:99103
HP:0002795	Abnormal respiratory system physiology	10370	CITED2	ORPHA:99103
HP:0002795	Abnormal respiratory system physiology	2626	GATA4	ORPHA:99103
HP:0002795	Abnormal respiratory system physiology	2627	GATA6	ORPHA:99103
HP:0002795	Abnormal respiratory system physiology	8942	KYNU	ORPHA:79155
HP:0002795	Abnormal respiratory system physiology	5979	RET	ORPHA:99803
HP:0002795	Abnormal respiratory system physiology	429	ASCL1	ORPHA:99803
HP:0002795	Abnormal respiratory system physiology	5880	RAC2	OMIM:618986
HP:0002795	Abnormal respiratory system physiology	219972	MPEG1	OMIM:619223
HP:0002795	Abnormal respiratory system physiology	79875	THSD4	OMIM:619825
HP:0002795	Abnormal respiratory system physiology	4790	NFKB1	OMIM:616576
HP:0002795	Abnormal respiratory system physiology	4688	NCF2	ORPHA:379
HP:0002795	Abnormal respiratory system physiology	1535	CYBA	ORPHA:379
HP:0002795	Abnormal respiratory system physiology	4689	NCF4	ORPHA:379
HP:0002795	Abnormal respiratory system physiology	653361	NCF1	ORPHA:379
HP:0002795	Abnormal respiratory system physiology	79415	CYBC1	ORPHA:379
HP:0002795	Abnormal respiratory system physiology	6872	TAF1	ORPHA:53351
HP:0002795	Abnormal respiratory system physiology	5896	RAG1	ORPHA:231154
HP:0002795	Abnormal respiratory system physiology	4771	NF2	ORPHA:2495
HP:0002795	Abnormal respiratory system physiology	6598	SMARCB1	ORPHA:2495
HP:0002795	Abnormal respiratory system physiology	5155	PDGFB	ORPHA:2495
HP:0002795	Abnormal respiratory system physiology	84231	TRAF7	ORPHA:2495
HP:0002795	Abnormal respiratory system physiology	6608	SMO	ORPHA:2495
HP:0002795	Abnormal respiratory system physiology	207	AKT1	ORPHA:2495
HP:0002795	Abnormal respiratory system physiology	7015	TERT	ORPHA:2495
HP:0002795	Abnormal respiratory system physiology	6605	SMARCE1	ORPHA:2495
HP:0002795	Abnormal respiratory system physiology	6609	SMPD1	ORPHA:77293
HP:0002795	Abnormal respiratory system physiology	25	ABL1	OMIM:617602
HP:0002795	Abnormal respiratory system physiology	10664	CTCF	ORPHA:363611
HP:0002795	Abnormal respiratory system physiology	27040	LAT	OMIM:617514
HP:0002795	Abnormal respiratory system physiology	21	ABCA3	ORPHA:217563
HP:0002795	Abnormal respiratory system physiology	6439	SFTPB	ORPHA:217563
HP:0002795	Abnormal respiratory system physiology	8737	RIPK1	OMIM:618108
HP:0002795	Abnormal respiratory system physiology	83737	ITCH	ORPHA:228426
HP:0002795	Abnormal respiratory system physiology	83737	ITCH	OMIM:613385
HP:0002795	Abnormal respiratory system physiology	55901	THSD1	OMIM:620244
HP:0002795	Abnormal respiratory system physiology	84992	PIGY	OMIM:616809
HP:0002795	Abnormal respiratory system physiology	115399	LRRC56	OMIM:618254
HP:0002795	Abnormal respiratory system physiology	641	BLM	OMIM:210900
HP:0002795	Abnormal respiratory system physiology	871	SERPINH1	OMIM:613848
HP:0002795	Abnormal respiratory system physiology	2304	FOXE1	ORPHA:319487
HP:0002795	Abnormal respiratory system physiology	3026	HABP2	ORPHA:319487
HP:0002795	Abnormal respiratory system physiology	9562	MINPP1	ORPHA:319487
HP:0002795	Abnormal respiratory system physiology	57169	ZNFX1	OMIM:619644
HP:0002795	Abnormal respiratory system physiology	6813	STXBP2	OMIM:613101
HP:0002795	Abnormal respiratory system physiology	5062	PAK2	OMIM:618458
HP:0002795	Abnormal respiratory system physiology	950	SCARB2	ORPHA:77259
HP:0002795	Abnormal respiratory system physiology	3476	IGBP1	OMIM:300472
HP:0002795	Abnormal respiratory system physiology	2137	EXTL3	ORPHA:508533
HP:0002795	Abnormal respiratory system physiology	2137	EXTL3	OMIM:617425
HP:0002795	Abnormal respiratory system physiology	11133	KPTN	OMIM:615637
HP:0002795	Abnormal respiratory system physiology	11133	KPTN	ORPHA:397612
HP:0002795	Abnormal respiratory system physiology	4522	MTHFD1	OMIM:617780
HP:0002795	Abnormal respiratory system physiology	939	CD27	OMIM:615122
HP:0002795	Abnormal respiratory system physiology	23149	FCHO1	OMIM:619164
HP:0002795	Abnormal respiratory system physiology	10157	AASS	ORPHA:2203
HP:0002795	Abnormal respiratory system physiology	56246	MRAP	OMIM:607398
HP:0002795	Abnormal respiratory system physiology	4001	LMNB1	OMIM:619179
HP:0002795	Abnormal respiratory system physiology	3952	LEP	OMIM:614962
HP:0002795	Abnormal respiratory system physiology	8792	TNFRSF11A	OMIM:612301
HP:0002795	Abnormal respiratory system physiology	10095	ARPC1B	OMIM:617718
HP:0002795	Abnormal respiratory system physiology	1053	CEBPE	OMIM:245480
HP:0002795	Abnormal respiratory system physiology	2328	FMO3	OMIM:602079
HP:0002795	Abnormal respiratory system physiology	718	C3	OMIM:613779
HP:0002795	Abnormal respiratory system physiology	5317	PKP1	ORPHA:158668
HP:0002795	Abnormal respiratory system physiology	5879	RAC1	OMIM:617751
HP:0002795	Abnormal respiratory system physiology	5879	RAC1	ORPHA:500159
HP:0002795	Abnormal respiratory system physiology	6603	SMARCD2	OMIM:617475
HP:0002795	Abnormal respiratory system physiology	10747	MASP2	OMIM:613791
HP:0002795	Abnormal respiratory system physiology	284119	CAVIN1	OMIM:613327
HP:0002795	Abnormal respiratory system physiology	25981	DNAH1	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	54768	HYDIN	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	352909	DNAAF3	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	27148	STK36	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	51314	NME8	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	92749	DRC1	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	54970	TTC12	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	152110	NEK10	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	2302	FOXJ1	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	221421	RSPH9	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	85478	CCDC65	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	55036	CCDC40	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	51364	ZMYND10	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	64446	DNAI2	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	8382	NME5	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	6674	SPAG1	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	83544	DNAL1	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	89765	RSPH1	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	83538	ODAD4	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	200373	CFAP221	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	374407	DNAJB13	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	55172	DNAAF2	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	161582	DNAAF4	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	2622	GAS8	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	23639	DNAAF11	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	27019	DNAI1	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	345895	RSPH4A	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	54919	DNAAF5	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	6103	RPGR	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	85452	CFAP74	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	93233	ODAD1	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	55130	ODAD2	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	1767	DNAH5	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	83861	RSPH3	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	56683	CFAP298	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	79925	SPEF2	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	10309	CCNO	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	139212	DNAAF6	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	123872	DNAAF1	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	85016	CFAP300	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	339829	CCDC39	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	8701	DNAH11	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	1770	DNAH9	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	246176	GAS2L2	ORPHA:244
HP:0002795	Abnormal respiratory system physiology	3835	KIF22	ORPHA:93360
HP:0002795	Abnormal respiratory system physiology	4784	NFIX	OMIM:602535
HP:0002795	Abnormal respiratory system physiology	65082	VPS33A	ORPHA:505248
HP:0002795	Abnormal respiratory system physiology	324	APC	ORPHA:261584
HP:0002795	Abnormal respiratory system physiology	4256	MGP	OMIM:245150
HP:0002795	Abnormal respiratory system physiology	2990	GUSB	OMIM:253220
HP:0002795	Abnormal respiratory system physiology	1776	DNASE1L3	ORPHA:36412
HP:0002795	Abnormal respiratory system physiology	28956	LAMTOR2	OMIM:610798
HP:0002795	Abnormal respiratory system physiology	28956	LAMTOR2	ORPHA:90023
HP:0002795	Abnormal respiratory system physiology	57211	ADGRG6	OMIM:616503
HP:0002795	Abnormal respiratory system physiology	79770	TXNDC15	OMIM:619879
HP:0002795	Abnormal respiratory system physiology	3920	LAMP2	ORPHA:34587
HP:0002795	Abnormal respiratory system physiology	54487	DGCR8	OMIM:192430
HP:0002795	Abnormal respiratory system physiology	8214	DGCR6	OMIM:192430
HP:0002795	Abnormal respiratory system physiology	8220	ESS2	OMIM:192430
HP:0002795	Abnormal respiratory system physiology	9993	DGCR2	OMIM:192430
HP:0002795	Abnormal respiratory system physiology	3239	HOXD13	ORPHA:887
HP:0002795	Abnormal respiratory system physiology	3198	HOXA1	OMIM:601536
HP:0002795	Abnormal respiratory system physiology	9775	EIF4A3	OMIM:268305
HP:0002795	Abnormal respiratory system physiology	22858	CILK1	OMIM:612651
HP:0002795	Abnormal respiratory system physiology	27152	INTU	OMIM:617925
HP:0002795	Abnormal respiratory system physiology	6650	CAPN15	OMIM:619318
HP:0002795	Abnormal respiratory system physiology	55294	FBXW7	OMIM:620012
HP:0002795	Abnormal respiratory system physiology	55023	PHIP	OMIM:617991
HP:0002795	Abnormal respiratory system physiology	6711	SPTBN1	OMIM:619475
HP:0002795	Abnormal respiratory system physiology	26005	C2CD3	OMIM:615948
HP:0002795	Abnormal respiratory system physiology	26005	C2CD3	ORPHA:434179
HP:0002795	Abnormal respiratory system physiology	5745	PTH1R	OMIM:215045
HP:0002795	Abnormal respiratory system physiology	23065	EMC1	OMIM:616875
HP:0002795	Abnormal respiratory system physiology	23065	EMC1	ORPHA:480898
HP:0002795	Abnormal respiratory system physiology	10736	SIX2	ORPHA:488437
HP:0002795	Abnormal respiratory system physiology	8092	ALX1	ORPHA:306542
HP:0002795	Abnormal respiratory system physiology	57128	LYRM4	OMIM:615595
HP:0002795	Abnormal respiratory system physiology	182	JAG1	OMIM:619574
HP:0002795	Abnormal respiratory system physiology	6885	MAP3K7	OMIM:617137
HP:0002795	Abnormal respiratory system physiology	775	CACNA1C	OMIM:620029
HP:0002795	Abnormal respiratory system physiology	27235	COQ2	ORPHA:227510
HP:0002795	Abnormal respiratory system physiology	27235	COQ2	ORPHA:98933
HP:0002795	Abnormal respiratory system physiology	6571	SLC18A2	ORPHA:352649
HP:0002795	Abnormal respiratory system physiology	1513	CTSK	ORPHA:763
HP:0002795	Abnormal respiratory system physiology	7849	PAX8	OMIM:218700
HP:0002795	Abnormal respiratory system physiology	91179	SCARF2	OMIM:600920
HP:0002795	Abnormal respiratory system physiology	867	CBL	OMIM:613563
HP:0002795	Abnormal respiratory system physiology	5921	RASA1	ORPHA:137667
HP:0002795	Abnormal respiratory system physiology	1718	DHCR24	ORPHA:35107
HP:0002795	Abnormal respiratory system physiology	473	RERE	OMIM:616975
HP:0002795	Abnormal respiratory system physiology	54916	TMEM260	OMIM:617478
HP:0002795	Abnormal respiratory system physiology	54361	WNT4	OMIM:611812
HP:0002795	Abnormal respiratory system physiology	5580	PRKCD	OMIM:615559
HP:0002795	Abnormal respiratory system physiology	54499	TMCO1	OMIM:213980
HP:0002795	Abnormal respiratory system physiology	51816	ADA2	OMIM:615688
HP:0002795	Abnormal respiratory system physiology	10625	IVNS1ABP	OMIM:618969
HP:0002795	Abnormal respiratory system physiology	4194	MDM4	OMIM:618849
HP:0002795	Abnormal respiratory system physiology	5696	PSMB8	OMIM:256040
HP:0002795	Abnormal respiratory system physiology	326	AIRE	OMIM:240300
HP:0002795	Abnormal respiratory system physiology	56171	DNAH7	OMIM:620356
HP:0002795	Abnormal respiratory system physiology	1147	CHUK	OMIM:613630
HP:0002795	Abnormal respiratory system physiology	5294	PIK3CG	OMIM:619802
HP:0002795	Abnormal respiratory system physiology	9094	UNC119	OMIM:615518
HP:0002795	Abnormal respiratory system physiology	56160	NSMCE3	OMIM:617241
HP:0002795	Abnormal respiratory system physiology	1503	CTPS1	OMIM:615897
HP:0002795	Abnormal respiratory system physiology	3098	HK1	OMIM:618547
HP:0002795	Abnormal respiratory system physiology	7174	TPP2	ORPHA:444463
HP:0002795	Abnormal respiratory system physiology	7852	CXCR4	ORPHA:51636
HP:0002795	Abnormal respiratory system physiology	2934	GSN	ORPHA:85448
HP:0002795	Abnormal respiratory system physiology	6809	STX3	OMIM:619445
HP:0002795	Abnormal respiratory system physiology	1794	DOCK2	OMIM:616433
HP:0002795	Abnormal respiratory system physiology	1991	ELANE	ORPHA:2686
HP:0002795	Abnormal respiratory system physiology	4758	NEU1	ORPHA:93400
HP:0002795	Abnormal respiratory system physiology	23607	CD2AP	ORPHA:656
HP:0002795	Abnormal respiratory system physiology	9688	NUP93	ORPHA:656
HP:0002795	Abnormal respiratory system physiology	4643	MYO1E	ORPHA:656
HP:0002795	Abnormal respiratory system physiology	64423	INF2	ORPHA:656
HP:0002795	Abnormal respiratory system physiology	26130	GAPVD1	ORPHA:656
HP:0002795	Abnormal respiratory system physiology	57122	NUP107	ORPHA:656
HP:0002795	Abnormal respiratory system physiology	51479	ANKFY1	ORPHA:656
HP:0002795	Abnormal respiratory system physiology	54443	ANLN	ORPHA:656
HP:0002795	Abnormal respiratory system physiology	5800	PTPRO	ORPHA:656
HP:0002795	Abnormal respiratory system physiology	286204	CRB2	ORPHA:656
HP:0002795	Abnormal respiratory system physiology	23165	NUP205	ORPHA:656
HP:0002795	Abnormal respiratory system physiology	2013	EMP2	ORPHA:656
HP:0002795	Abnormal respiratory system physiology	79023	NUP37	ORPHA:656
HP:0002795	Abnormal respiratory system physiology	51196	PLCE1	ORPHA:656
HP:0002795	Abnormal respiratory system physiology	79902	NUP85	ORPHA:656
HP:0002795	Abnormal respiratory system physiology	1285	COL4A3	ORPHA:656
HP:0002795	Abnormal respiratory system physiology	396	ARHGDIA	ORPHA:656
HP:0002795	Abnormal respiratory system physiology	79934	COQ8B	ORPHA:656
HP:0002795	Abnormal respiratory system physiology	23279	NUP160	ORPHA:656
HP:0002795	Abnormal respiratory system physiology	9863	MAGI2	ORPHA:656
HP:0002795	Abnormal respiratory system physiology	81	ACTN4	ORPHA:656
HP:0002795	Abnormal respiratory system physiology	7225	TRPC6	ORPHA:656
HP:0002795	Abnormal respiratory system physiology	8542	APOL1	ORPHA:656
HP:0002795	Abnormal respiratory system physiology	54885	TBC1D8B	ORPHA:656
HP:0002795	Abnormal respiratory system physiology	7827	NPHS2	ORPHA:656
HP:0002795	Abnormal respiratory system physiology	83478	ARHGAP24	ORPHA:656
HP:0002795	Abnormal respiratory system physiology	23500	DAAM2	ORPHA:656
HP:0002795	Abnormal respiratory system physiology	55746	NUP133	ORPHA:656
HP:0002795	Abnormal respiratory system physiology	9342	SNAP29	OMIM:609528
HP:0002795	Abnormal respiratory system physiology	55791	LRIF1	OMIM:619477
HP:0002795	Abnormal respiratory system physiology	54809	SAMD9	OMIM:617053
HP:0002795	Abnormal respiratory system physiology	6597	SMARCA4	ORPHA:1465
HP:0002795	Abnormal respiratory system physiology	8289	ARID1A	ORPHA:1465
HP:0002795	Abnormal respiratory system physiology	5977	DPF2	ORPHA:1465
HP:0002795	Abnormal respiratory system physiology	6601	SMARCC2	ORPHA:1465
HP:0002795	Abnormal respiratory system physiology	6602	SMARCD1	ORPHA:1465
HP:0002795	Abnormal respiratory system physiology	196528	ARID2	ORPHA:1465
HP:0002795	Abnormal respiratory system physiology	6664	SOX11	ORPHA:1465
HP:0002795	Abnormal respiratory system physiology	133686	NADK2	ORPHA:431361
HP:0002795	Abnormal respiratory system physiology	5048	PAFAH1B1	ORPHA:95232
HP:0002795	Abnormal respiratory system physiology	7314	UBB	ORPHA:99772
HP:0002795	Abnormal respiratory system physiology	57822	GRHL3	ORPHA:99772
HP:0002795	Abnormal respiratory system physiology	1678	TIMM8A	ORPHA:52368
HP:0002795	Abnormal respiratory system physiology	92935	MARS2	OMIM:616430
HP:0002795	Abnormal respiratory system physiology	5340	PLG	OMIM:619360
HP:0002795	Abnormal respiratory system physiology	64711	HS3ST6	OMIM:619367
HP:0002795	Abnormal respiratory system physiology	4292	MLH1	OMIM:158320
HP:0002795	Abnormal respiratory system physiology	4292	MLH1	ORPHA:144
HP:0002795	Abnormal respiratory system physiology	4436	MSH2	OMIM:158320
HP:0002795	Abnormal respiratory system physiology	4436	MSH2	ORPHA:144
HP:0002795	Abnormal respiratory system physiology	4072	EPCAM	ORPHA:144
HP:0002795	Abnormal respiratory system physiology	5395	PMS2	ORPHA:144
HP:0002795	Abnormal respiratory system physiology	2956	MSH6	ORPHA:144
HP:0002795	Abnormal respiratory system physiology	5378	PMS1	ORPHA:144
HP:0002795	Abnormal respiratory system physiology	284654	RSPO1	OMIM:610644
HP:0002795	Abnormal respiratory system physiology	5345	SERPINF2	ORPHA:79
HP:0002795	Abnormal respiratory system physiology	5345	SERPINF2	OMIM:262850
HP:0002795	Abnormal respiratory system physiology	16	AARS1	OMIM:619661
HP:0002795	Abnormal respiratory system physiology	1308	COL17A1	ORPHA:79406
HP:0002795	Abnormal respiratory system physiology	4312	MMP1	ORPHA:79408
HP:0002795	Abnormal respiratory system physiology	1294	COL7A1	ORPHA:79408
HP:0002795	Abnormal respiratory system physiology	1294	COL7A1	ORPHA:79409
HP:0002795	Abnormal respiratory system physiology	1294	COL7A1	ORPHA:79410
HP:0002795	Abnormal respiratory system physiology	1294	COL7A1	ORPHA:79411
HP:0002795	Abnormal respiratory system physiology	158326	FREM1	ORPHA:217266
HP:0002795	Abnormal respiratory system physiology	710	SERPING1	ORPHA:100050
HP:0002795	Abnormal respiratory system physiology	1288	COL4A6	ORPHA:1018
HP:0002795	Abnormal respiratory system physiology	1287	COL4A5	ORPHA:1018
HP:0002795	Abnormal respiratory system physiology	84071	ARMC2	OMIM:618433
HP:0002795	Abnormal respiratory system physiology	2161	F12	OMIM:610618
HP:0002795	Abnormal respiratory system physiology	959	CD40LG	OMIM:308230
HP:0002795	Abnormal respiratory system physiology	23019	CNOT1	ORPHA:556955
HP:0002795	Abnormal respiratory system physiology	51651	PTRH2	ORPHA:456312
HP:0002795	Abnormal respiratory system physiology	3123	HLA-DRB1	ORPHA:397
HP:0002795	Abnormal respiratory system physiology	3123	HLA-DRB1	ORPHA:797
HP:0002795	Abnormal respiratory system physiology	3123	HLA-DRB1	ORPHA:747
HP:0002795	Abnormal respiratory system physiology	3123	HLA-DRB1	OMIM:181000
HP:0002795	Abnormal respiratory system physiology	8974	P4HA2	ORPHA:397
HP:0002795	Abnormal respiratory system physiology	3561	IL2RG	ORPHA:276
HP:0002795	Abnormal respiratory system physiology	2057	EPOR	ORPHA:90042
HP:0002795	Abnormal respiratory system physiology	727897	MUC5B	OMIM:178500
HP:0002795	Abnormal respiratory system physiology	727897	MUC5B	ORPHA:2032
HP:0002795	Abnormal respiratory system physiology	729238	SFTPA2	OMIM:178500
HP:0002795	Abnormal respiratory system physiology	729238	SFTPA2	ORPHA:2032
HP:0002795	Abnormal respiratory system physiology	440275	EIF2AK4	OMIM:234810
HP:0002795	Abnormal respiratory system physiology	146845	CFAP52	OMIM:619607
HP:0002795	Abnormal respiratory system physiology	388389	DNAAF19	OMIM:614679
HP:0002795	Abnormal respiratory system physiology	7248	TSC1	ORPHA:538
HP:0002795	Abnormal respiratory system physiology	7249	TSC2	ORPHA:538
HP:0002795	Abnormal respiratory system physiology	3119	HLA-DQB1	ORPHA:930
HP:0002795	Abnormal respiratory system physiology	3117	HLA-DQA1	ORPHA:930
HP:0002795	Abnormal respiratory system physiology	4842	NOS1	ORPHA:930
HP:0002795	Abnormal respiratory system physiology	9663	LPIN2	ORPHA:77297
HP:0002795	Abnormal respiratory system physiology	10320	IKZF1	ORPHA:36426
HP:0002795	Abnormal respiratory system physiology	1438	CSF2RA	ORPHA:264675
HP:0002795	Abnormal respiratory system physiology	6772	STAT1	OMIM:614162
HP:0002795	Abnormal respiratory system physiology	653509	SFTPA1	OMIM:619611
HP:0002795	Abnormal respiratory system physiology	653509	SFTPA1	ORPHA:2032
HP:0002795	Abnormal respiratory system physiology	6774	STAT3	ORPHA:2314
HP:0002795	Abnormal respiratory system physiology	79991	STN1	ORPHA:2032
HP:0002795	Abnormal respiratory system physiology	1832	DSP	ORPHA:2032
HP:0002795	Abnormal respiratory system physiology	10144	FAM13A	ORPHA:2032
HP:0002795	Abnormal respiratory system physiology	23250	ATP11A	ORPHA:2032
HP:0002795	Abnormal respiratory system physiology	51750	RTEL1	ORPHA:2032
HP:0002795	Abnormal respiratory system physiology	7012	TERC	ORPHA:2032
HP:0002795	Abnormal respiratory system physiology	5073	PARN	ORPHA:2032
HP:0002795	Abnormal respiratory system physiology	5073	PARN	OMIM:616371
HP:0002795	Abnormal respiratory system physiology	3431	SP110	ORPHA:79124
HP:0002795	Abnormal respiratory system physiology	659	BMPR2	OMIM:178600
HP:0002795	Abnormal respiratory system physiology	254428	SLC41A1	OMIM:619468
HP:0002795	Abnormal respiratory system physiology	84818	IL17RC	ORPHA:1334
HP:0002795	Abnormal respiratory system physiology	64581	CLEC7A	ORPHA:1334
HP:0002795	Abnormal respiratory system physiology	23765	IL17RA	ORPHA:1334
HP:0002795	Abnormal respiratory system physiology	10758	TRAF3IP2	ORPHA:1334
HP:0002795	Abnormal respiratory system physiology	112744	IL17F	ORPHA:1334
HP:0002795	Abnormal respiratory system physiology	5981	RFC1	OMIM:614575
HP:0002795	Abnormal respiratory system physiology	56244	BTNL2	ORPHA:797
HP:0002795	Abnormal respiratory system physiology	25923	ATL3	ORPHA:36386
HP:0002795	Abnormal respiratory system physiology	9517	SPTLC2	ORPHA:36386
HP:0002795	Abnormal respiratory system physiology	51062	ATL1	ORPHA:36386
HP:0002795	Abnormal respiratory system physiology	54914	FOCAD	OMIM:619991
HP:0002795	Abnormal respiratory system physiology	4519	MT-CYB	ORPHA:137675
HP:0002795	Abnormal respiratory system physiology	6049	RNF6	ORPHA:99977
HP:0002795	Abnormal respiratory system physiology	7048	TGFBR2	ORPHA:99977
HP:0002795	Abnormal respiratory system physiology	51741	WWOX	ORPHA:99977
HP:0002795	Abnormal respiratory system physiology	9940	DLEC1	ORPHA:99977
HP:0002795	Abnormal respiratory system physiology	1314	COPA	OMIM:616414
HP:0002795	Abnormal respiratory system physiology	10342	TFG	ORPHA:90117
HP:0002795	Abnormal respiratory system physiology	38	ACAT1	ORPHA:134
HP:0002795	Abnormal respiratory system physiology	2193	FARSA	OMIM:619013
HP:0002795	Abnormal respiratory system physiology	1536	CYBB	OMIM:306400
HP:0002795	Abnormal respiratory system physiology	80025	PANK2	ORPHA:216866
HP:0002795	Abnormal respiratory system physiology	6929	TCF3	ORPHA:33110
HP:0002795	Abnormal respiratory system physiology	7922	SLC39A7	ORPHA:33110
HP:0002795	Abnormal respiratory system physiology	973	CD79A	ORPHA:33110
HP:0002795	Abnormal respiratory system physiology	974	CD79B	ORPHA:33110
HP:0002795	Abnormal respiratory system physiology	6688	SPI1	ORPHA:33110
HP:0002795	Abnormal respiratory system physiology	3543	IGLL1	ORPHA:33110
HP:0002795	Abnormal respiratory system physiology	3507	IGHM	ORPHA:33110
HP:0002795	Abnormal respiratory system physiology	29760	BLNK	ORPHA:33110
HP:0002795	Abnormal respiratory system physiology	5295	PIK3R1	ORPHA:33110
HP:0002795	Abnormal respiratory system physiology	56262	LRRC8A	ORPHA:33110
HP:0002795	Abnormal respiratory system physiology	9968	MED12	ORPHA:2728
HP:0002795	Abnormal respiratory system physiology	23729	SHPK	ORPHA:440713
HP:0002795	Abnormal respiratory system physiology	3284	HSD3B2	ORPHA:90791
HP:0002795	Abnormal respiratory system physiology	2584	GALK1	ORPHA:79237
HP:0002795	Abnormal respiratory system physiology	58484	NLRC4	OMIM:616050
HP:0002795	Abnormal respiratory system physiology	2903	GRIN2A	ORPHA:1945
HP:0002795	Abnormal respiratory system physiology	3459	IFNGR1	OMIM:209950
HP:0002795	Abnormal respiratory system physiology	50940	PDE11A	ORPHA:1359
HP:0002795	Abnormal respiratory system physiology	84133	ZNRF3	ORPHA:1501
HP:0002795	Abnormal respiratory system physiology	1499	CTNNB1	ORPHA:1501
HP:0002795	Abnormal respiratory system physiology	65055	REEP1	OMIM:620011
HP:0002795	Abnormal respiratory system physiology	161742	SPRED1	ORPHA:137605
HP:0002795	Abnormal respiratory system physiology	5002	SLC22A18	OMIM:211980
HP:0002795	Abnormal respiratory system physiology	1956	EGFR	OMIM:211980
HP:0002795	Abnormal respiratory system physiology	5519	PPP2R1B	OMIM:211980
HP:0002795	Abnormal respiratory system physiology	2074	ERCC6	OMIM:211980
HP:0002795	Abnormal respiratory system physiology	1326	MAP3K8	OMIM:211980
HP:0002795	Abnormal respiratory system physiology	5071	PRKN	OMIM:211980
HP:0002795	Abnormal respiratory system physiology	1548	CYP2A6	OMIM:211980
HP:0002795	Abnormal respiratory system physiology	2064	ERBB2	OMIM:211980
HP:0002795	Abnormal respiratory system physiology	2214	FCGR3A	OMIM:615707
HP:0002795	Abnormal respiratory system physiology	5910	RAP1GDS1	OMIM:620655
HP:0002795	Abnormal respiratory system physiology	25978	CHMP2B	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	8148	TAF15	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	5445	PON2	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	9217	VAPB	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	8878	SQSTM1	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	5630	PRPH	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	29110	TBK1	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	55830	GLT8D1	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	755	CFAP410	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	10891	PPARGC1A	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	6647	SOD1	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	10133	OPTN	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	9896	FIG4	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	5444	PON1	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	5446	PON3	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	4744	NEFH	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	5216	PFN1	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	54209	TREM2	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	283	ANG	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	23435	TARDBP	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	29978	UBQLN2	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	2733	GLE1	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	2521	FUS	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	6311	ATXN2	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	1610	DAO	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	2066	ERBB4	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	311	ANXA11	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	23025	UNC13A	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	899	CCNF	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	400916	CHCHD10	ORPHA:803
HP:0002795	Abnormal respiratory system physiology	6521	SLC4A1	ORPHA:3202
HP:0002795	Abnormal respiratory system physiology	9780	PIEZO1	ORPHA:3202
HP:0002795	Abnormal respiratory system physiology	2542	SLC37A4	ORPHA:79259
HP:0002795	Abnormal respiratory system physiology	5371	PML	ORPHA:520
HP:0002795	Abnormal respiratory system physiology	5914	RARA	ORPHA:520
HP:0002795	Abnormal respiratory system physiology	359948	IRF2BP2	ORPHA:520
HP:0002795	Abnormal respiratory system physiology	81608	FIP1L1	ORPHA:520
HP:0002795	Abnormal respiratory system physiology	4869	NPM1	ORPHA:520
HP:0002795	Abnormal respiratory system physiology	5573	PRKAR1A	ORPHA:520
HP:0002795	Abnormal respiratory system physiology	54880	BCOR	ORPHA:520
HP:0002795	Abnormal respiratory system physiology	64859	NABP1	ORPHA:520
HP:0002795	Abnormal respiratory system physiology	6777	STAT5B	ORPHA:520
HP:0002795	Abnormal respiratory system physiology	4926	NUMA1	ORPHA:520
HP:0002795	Abnormal respiratory system physiology	7704	ZBTB16	ORPHA:520
HP:0002795	Abnormal respiratory system physiology	79718	TBL1XR1	ORPHA:520
HP:0002795	Abnormal respiratory system physiology	6720	SREBF1	OMIM:158310
HP:0002795	Abnormal respiratory system physiology	6335	SCN9A	OMIM:167400
HP:0002795	Abnormal respiratory system physiology	7161	TP73	OMIM:619466
HP:0002795	Abnormal respiratory system physiology	7403	KDM6A	OMIM:147920
HP:0002795	Abnormal respiratory system physiology	7125	TNNC2	OMIM:620161
HP:0002795	Abnormal respiratory system physiology	146862	UNC45B	OMIM:619178
HP:0002795	Abnormal respiratory system physiology	3714	JAG2	OMIM:619566
HP:0002795	Abnormal respiratory system physiology	89874	SLC25A21	OMIM:618811
HP:0002795	Abnormal respiratory system physiology	8106	PABPN1	ORPHA:270
HP:0002795	Abnormal respiratory system physiology	26092	TOR1AIP1	OMIM:617072
HP:0002795	Abnormal respiratory system physiology	23405	DICER1	OMIM:618272
HP:0002795	Abnormal respiratory system physiology	2202	EFEMP1	OMIM:620780
HP:0002795	Abnormal respiratory system physiology	64324	NSD1	ORPHA:821
HP:0002795	Abnormal respiratory system physiology	10297	APC2	ORPHA:821
HP:0002795	Abnormal respiratory system physiology	22861	NLRP1	OMIM:618803
HP:0002795	Abnormal respiratory system physiology	22861	NLRP1	OMIM:617388
HP:0002795	Abnormal respiratory system physiology	23568	ARL2BP	OMIM:615434
HP:0002795	Abnormal respiratory system physiology	54014	BRWD1	OMIM:620438
HP:0002795	Abnormal respiratory system physiology	25790	CFAP45	OMIM:619608
HP:0002795	Abnormal respiratory system physiology	91662	NLRP12	OMIM:611762
HP:0002795	Abnormal respiratory system physiology	83871	RAB34	OMIM:620718
HP:0002795	Abnormal respiratory system physiology	60558	GUF1	OMIM:617065
HP:0002795	Abnormal respiratory system physiology	23095	KIF1B	OMIM:256700
HP:0002795	Abnormal respiratory system physiology	164781	DAW1	OMIM:620570
HP:0002795	Abnormal respiratory system physiology	89970	RSPRY1	ORPHA:457395
HP:0002795	Abnormal respiratory system physiology	64132	XYLT2	OMIM:264800
HP:0002795	Abnormal respiratory system physiology	4854	NOTCH3	ORPHA:2591
HP:0002795	Abnormal respiratory system physiology	5159	PDGFRB	ORPHA:2591
HP:0002795	Abnormal respiratory system physiology	7486	WRN	ORPHA:902
HP:0002795	Abnormal respiratory system physiology	3248	HPGD	ORPHA:2796
HP:0002795	Abnormal respiratory system physiology	6578	SLCO2A1	ORPHA:2796
HP:0002795	Abnormal respiratory system physiology	7373	COL14A1	ORPHA:79501
HP:0002795	Abnormal respiratory system physiology	79719	AAGAB	ORPHA:79501
HP:0002795	Abnormal respiratory system physiology	7157	TP53	ORPHA:524
HP:0002795	Abnormal respiratory system physiology	1029	CDKN2A	ORPHA:524
HP:0002795	Abnormal respiratory system physiology	4193	MDM2	ORPHA:524
HP:0002795	Abnormal respiratory system physiology	11200	CHEK2	ORPHA:524
HP:0002795	Abnormal respiratory system physiology	2130	EWSR1	ORPHA:83469
HP:0002795	Abnormal respiratory system physiology	5925	RB1	OMIM:182280
HP:0002795	Abnormal respiratory system physiology	65998	ZFTA	ORPHA:251636
HP:0002795	Abnormal respiratory system physiology	4665	NAB2	ORPHA:2126
HP:0002795	Abnormal respiratory system physiology	6794	STK11	ORPHA:2869
HP:0002795	Abnormal respiratory system physiology	51360	MBTPS2	ORPHA:659
HP:0002795	Abnormal respiratory system physiology	162514	TRPV3	ORPHA:659
HP:0002795	Abnormal respiratory system physiology	64065	PERP	ORPHA:659
HP:0002795	Abnormal respiratory system physiology	9817	KEAP1	ORPHA:276399
HP:0002795	Abnormal respiratory system physiology	2321	FLT1	ORPHA:275555
HP:0002795	Abnormal respiratory system physiology	219736	STOX1	ORPHA:275555
HP:0002795	Abnormal respiratory system physiology	10699	CORIN	ORPHA:275555
HP:0002795	Abnormal respiratory system physiology	2492	FSHR	ORPHA:64739
HP:0002795	Abnormal respiratory system physiology	7276	TTR	OMIM:105210
HP:0002795	Abnormal respiratory system physiology	3075	CFH	ORPHA:244242
HP:0002795	Abnormal respiratory system physiology	3426	CFI	ORPHA:244242
HP:0002795	Abnormal respiratory system physiology	4179	CD46	ORPHA:244242
HP:0002795	Abnormal respiratory system physiology	101101692	HELLPAR	ORPHA:244242
HP:0002795	Abnormal respiratory system physiology	847	CAT	ORPHA:926
HP:0002795	Abnormal respiratory system physiology	4486	MST1R	OMIM:617075
HP:0002795	Abnormal respiratory system physiology	1523	CUX1	OMIM:618330
HP:0002795	Abnormal respiratory system physiology	54101	RIPK4	ORPHA:1401
HP:0002795	Abnormal respiratory system physiology	713	C1QB	OMIM:620321
HP:0002795	Abnormal respiratory system physiology	5077	PAX3	ORPHA:896
HP:0002795	Abnormal respiratory system physiology	7374	UNG	OMIM:608106
HP:0002795	Abnormal respiratory system physiology	4125	MAN2B1	ORPHA:309282
HP:0002795	Abnormal respiratory system physiology	2588	GALNS	OMIM:253000
HP:0002795	Abnormal respiratory system physiology	404672	GTF2H5	ORPHA:33364
HP:0002795	Abnormal respiratory system physiology	833	CARS1	ORPHA:33364
HP:0002795	Abnormal respiratory system physiology	7737	RNF113A	ORPHA:33364
HP:0002795	Abnormal respiratory system physiology	136647	MPLKIP	ORPHA:33364
HP:0002795	Abnormal respiratory system physiology	6897	TARS1	ORPHA:33364
HP:0002795	Abnormal respiratory system physiology	2071	ERCC3	ORPHA:33364
HP:0002795	Abnormal respiratory system physiology	2961	GTF2E2	ORPHA:33364
HP:0009113	Diaphragmatic weakness	22880	MORC2	ORPHA:466768
HP:0009113	Diaphragmatic weakness	2548	GAA	OMIM:232300
HP:0009113	Diaphragmatic weakness	7167	TPI1	ORPHA:868
HP:0009113	Diaphragmatic weakness	9531	BAG3	OMIM:612954
HP:0009113	Diaphragmatic weakness	65055	REEP1	OMIM:620011
HP:0009113	Diaphragmatic weakness	1134	CHRNA1	OMIM:601462
HP:0009113	Diaphragmatic weakness	7273	TTN	OMIM:603689
HP:0009113	Diaphragmatic weakness	59341	TRPV4	OMIM:606071
HP:0009113	Diaphragmatic weakness	59341	TRPV4	OMIM:181405
HP:0009113	Diaphragmatic weakness	84466	MEGF10	OMIM:614399
HP:0009113	Diaphragmatic weakness	11080	DNAJB4	OMIM:620326
HP:0009113	Diaphragmatic weakness	113278	SLC52A3	OMIM:211500
HP:0009113	Diaphragmatic weakness	113278	SLC52A3	OMIM:211530
HP:0009113	Diaphragmatic weakness	3508	IGHMBP2	OMIM:604320
HP:0009113	Diaphragmatic weakness	5376	PMP22	ORPHA:101081
HP:0009113	Diaphragmatic weakness	1303	COL12A1	ORPHA:75840
HP:0009113	Diaphragmatic weakness	1291	COL6A1	ORPHA:75840
HP:0009113	Diaphragmatic weakness	1292	COL6A2	ORPHA:75840
HP:0009113	Diaphragmatic weakness	1293	COL6A3	ORPHA:75840
HP:0005954	Pulmonary capillary hemangiomatosis	440275	EIF2AK4	OMIM:234810
HP:0005954	Pulmonary capillary hemangiomatosis	440275	EIF2AK4	ORPHA:199241
HP:0005954	Pulmonary capillary hemangiomatosis	826	CAPNS1	OMIM:620777
HP:0005954	Pulmonary capillary hemangiomatosis	595	CCND1	OMIM:193300
HP:0005954	Pulmonary capillary hemangiomatosis	7428	VHL	OMIM:193300
HP:0002783	Recurrent lower respiratory tract infections	7454	WAS	OMIM:301000
HP:0002783	Recurrent lower respiratory tract infections	695	BTK	OMIM:300755
HP:0002783	Recurrent lower respiratory tract infections	1291	COL6A1	OMIM:254090
HP:0002783	Recurrent lower respiratory tract infections	10664	CTCF	ORPHA:363611
HP:0002783	Recurrent lower respiratory tract infections	29775	CARD10	OMIM:619632
HP:0002783	Recurrent lower respiratory tract infections	1493	CTLA4	ORPHA:436159
HP:0002783	Recurrent lower respiratory tract infections	1493	CTLA4	OMIM:616100
HP:0002783	Recurrent lower respiratory tract infections	6340	SCNN1G	ORPHA:60033
HP:0002783	Recurrent lower respiratory tract infections	1080	CFTR	ORPHA:60033
HP:0002783	Recurrent lower respiratory tract infections	1080	CFTR	ORPHA:586
HP:0002783	Recurrent lower respiratory tract infections	6337	SCNN1A	ORPHA:60033
HP:0002783	Recurrent lower respiratory tract infections	6338	SCNN1B	ORPHA:60033
HP:0002783	Recurrent lower respiratory tract infections	213	ALB	OMIM:616000
HP:0002783	Recurrent lower respiratory tract infections	213	ALB	ORPHA:86816
HP:0002783	Recurrent lower respiratory tract infections	4261	CIITA	OMIM:209920
HP:0002783	Recurrent lower respiratory tract infections	6774	STAT3	OMIM:615952
HP:0002783	Recurrent lower respiratory tract infections	1305	COL13A1	OMIM:616720
HP:0002783	Recurrent lower respiratory tract infections	5295	PIK3R1	OMIM:616005
HP:0002783	Recurrent lower respiratory tract infections	57282	SLC4A10	OMIM:620746
HP:0002783	Recurrent lower respiratory tract infections	4860	PNP	OMIM:613179
HP:0002783	Recurrent lower respiratory tract infections	79912	PYROXD1	OMIM:617258
HP:0002783	Recurrent lower respiratory tract infections	5580	PRKCD	OMIM:615559
HP:0002783	Recurrent lower respiratory tract infections	2622	GAS8	OMIM:616726
HP:0002783	Recurrent lower respiratory tract infections	5880	RAC2	OMIM:618986
HP:0002783	Recurrent lower respiratory tract infections	3932	LCK	OMIM:615758
HP:0002783	Recurrent lower respiratory tract infections	3659	IRF1	OMIM:620668
HP:0002783	Recurrent lower respiratory tract infections	8021	NUP214	OMIM:618426
HP:0002783	Recurrent lower respiratory tract infections	54440	SASH3	OMIM:301082
HP:0002783	Recurrent lower respiratory tract infections	6789	STK4	OMIM:614868
HP:0002783	Recurrent lower respiratory tract infections	959	CD40LG	OMIM:308230
HP:0002783	Recurrent lower respiratory tract infections	79759	ZNF668	OMIM:620194
HP:0002783	Recurrent lower respiratory tract infections	114803	MYSM1	ORPHA:508542
HP:0002783	Recurrent lower respiratory tract infections	3575	IL7R	ORPHA:169154
HP:0002783	Recurrent lower respiratory tract infections	6804	STX1A	ORPHA:586
HP:0002783	Recurrent lower respiratory tract infections	2947	GSTM3	ORPHA:586
HP:0002783	Recurrent lower respiratory tract infections	7040	TGFB1	ORPHA:586
HP:0002783	Recurrent lower respiratory tract infections	2729	GCLC	ORPHA:586
HP:0002783	Recurrent lower respiratory tract infections	1084	CEACAM3	ORPHA:586
HP:0002783	Recurrent lower respiratory tract infections	6556	SLC11A1	ORPHA:586
HP:0002783	Recurrent lower respiratory tract infections	51164	DCTN4	ORPHA:586
HP:0002783	Recurrent lower respiratory tract infections	3783	KCNN4	ORPHA:586
HP:0002783	Recurrent lower respiratory tract infections	4282	MIF	ORPHA:586
HP:0002783	Recurrent lower respiratory tract infections	1909	EDNRA	ORPHA:586
HP:0002783	Recurrent lower respiratory tract infections	6550	SLC9A3	ORPHA:586
HP:0002783	Recurrent lower respiratory tract infections	3162	HMOX1	ORPHA:586
HP:0002783	Recurrent lower respiratory tract infections	115019	SLC26A9	ORPHA:586
HP:0002783	Recurrent lower respiratory tract infections	3077	HFE	ORPHA:586
HP:0002783	Recurrent lower respiratory tract infections	11254	SLC6A14	ORPHA:586
HP:0002783	Recurrent lower respiratory tract infections	5265	SERPINA1	ORPHA:586
HP:0002783	Recurrent lower respiratory tract infections	22802	CLCA4	ORPHA:586
HP:0002783	Recurrent lower respiratory tract infections	4680	CEACAM6	ORPHA:586
HP:0002783	Recurrent lower respiratory tract infections	3718	JAK3	OMIM:600802
HP:0002783	Recurrent lower respiratory tract infections	57169	ZNFX1	OMIM:619644
HP:0002783	Recurrent lower respiratory tract infections	6809	STX3	OMIM:619446
HP:0002783	Recurrent lower respiratory tract infections	8481	OFD1	OMIM:300209
HP:0002783	Recurrent lower respiratory tract infections	1289	COL5A1	OMIM:130000
HP:0002783	Recurrent lower respiratory tract infections	11151	CORO1A	OMIM:615401
HP:0002783	Recurrent lower respiratory tract infections	8547	FCN3	OMIM:613860
HP:0002783	Recurrent lower respiratory tract infections	5424	POLD1	OMIM:620836
HP:0002783	Recurrent lower respiratory tract infections	10525	HYOU1	OMIM:233600
HP:0002783	Recurrent lower respiratory tract infections	4780	NFE2L2	OMIM:617744
HP:0002783	Recurrent lower respiratory tract infections	472	ATM	OMIM:208900
HP:0002783	Recurrent lower respiratory tract infections	5591	PRKDC	OMIM:615966
HP:0002783	Recurrent lower respiratory tract infections	973	CD79A	OMIM:613501
HP:0002783	Recurrent lower respiratory tract infections	91869	RFT1	OMIM:612015
HP:0002783	Recurrent lower respiratory tract infections	64135	IFIH1	OMIM:615846
HP:0002783	Recurrent lower respiratory tract infections	8292	COLQ	ORPHA:98915
HP:0002783	Recurrent lower respiratory tract infections	3913	LAMB2	ORPHA:98915
HP:0002783	Recurrent lower respiratory tract infections	6662	SOX9	OMIM:114290
HP:0002783	Recurrent lower respiratory tract infections	868	CBLB	OMIM:620430
HP:0002783	Recurrent lower respiratory tract infections	10551	AGR2	OMIM:620233
HP:0002783	Recurrent lower respiratory tract infections	29927	SEC61A1	OMIM:620670
HP:0002783	Recurrent lower respiratory tract infections	3908	LAMA2	ORPHA:258
HP:0002783	Recurrent lower respiratory tract infections	57609	DIP2B	OMIM:136630
HP:0002783	Recurrent lower respiratory tract infections	3604	TNFRSF9	OMIM:620282
HP:0002783	Recurrent lower respiratory tract infections	4718	NDUFC2	OMIM:619170
HP:0002783	Recurrent lower respiratory tract infections	3978	LIG1	OMIM:619774
HP:0002783	Recurrent lower respiratory tract infections	79989	IFT56	OMIM:619534
HP:0002783	Recurrent lower respiratory tract infections	2530	FUT8	OMIM:618005
HP:0002783	Recurrent lower respiratory tract infections	1292	COL6A2	OMIM:620727
HP:0002783	Recurrent lower respiratory tract infections	6573	SLC19A1	OMIM:620603
HP:0002783	Recurrent lower respiratory tract infections	9020	MAP3K14	OMIM:620449
HP:0002783	Recurrent lower respiratory tract infections	92579	G6PC3	OMIM:612541
HP:0002783	Recurrent lower respiratory tract infections	50628	GEMIN4	OMIM:617913
HP:0002783	Recurrent lower respiratory tract infections	5426	POLE	OMIM:615139
HP:0002783	Recurrent lower respiratory tract infections	5718	PSMD12	OMIM:617516
HP:0002783	Recurrent lower respiratory tract infections	92344	GORAB	OMIM:231070
HP:0002783	Recurrent lower respiratory tract infections	713	C1QB	OMIM:620321
HP:0002783	Recurrent lower respiratory tract infections	3514	IGKC	ORPHA:183675
HP:0002783	Recurrent lower respiratory tract infections	3501	IGHG2	ORPHA:183675
HP:0002783	Recurrent lower respiratory tract infections	6792	CDKL5	ORPHA:505652
HP:0002783	Recurrent lower respiratory tract infections	1604	CD55	OMIM:226300
HP:0002783	Recurrent lower respiratory tract infections	7174	TPP2	OMIM:619220
HP:0002783	Recurrent lower respiratory tract infections	115399	LRRC56	OMIM:618254
HP:0002783	Recurrent lower respiratory tract infections	10892	MALT1	OMIM:615468
HP:0002783	Recurrent lower respiratory tract infections	8625	RFXANK	OMIM:620815
HP:0002783	Recurrent lower respiratory tract infections	4591	TRIM37	OMIM:253250
HP:0002783	Recurrent lower respiratory tract infections	2302	FOXJ1	OMIM:618699
HP:0002783	Recurrent lower respiratory tract infections	10125	RASGRP1	OMIM:618534
HP:0002783	Recurrent lower respiratory tract infections	7407	VARS1	OMIM:617802
HP:0002783	Recurrent lower respiratory tract infections	6304	SATB1	OMIM:619229
HP:0002783	Recurrent lower respiratory tract infections	9138	ARHGEF1	OMIM:618459
HP:0002783	Recurrent lower respiratory tract infections	164781	DAW1	OMIM:620570
HP:0002783	Recurrent lower respiratory tract infections	27019	DNAI1	OMIM:244400
HP:0002783	Recurrent lower respiratory tract infections	374407	DNAJB13	OMIM:617091
HP:0002783	Recurrent lower respiratory tract infections	83844	USP26	OMIM:301101
HP:0002783	Recurrent lower respiratory tract infections	6595	SMARCA2	OMIM:619293
HP:0002783	Recurrent lower respiratory tract infections	4791	NFKB2	ORPHA:293978
HP:0002783	Recurrent lower respiratory tract infections	4791	NFKB2	ORPHA:1572
HP:0002783	Recurrent lower respiratory tract infections	139818	DOCK11	OMIM:301109
HP:0002783	Recurrent lower respiratory tract infections	115650	TNFRSF13C	OMIM:240500
HP:0002783	Recurrent lower respiratory tract infections	115650	TNFRSF13C	ORPHA:1572
HP:0002783	Recurrent lower respiratory tract infections	29851	ICOS	OMIM:240500
HP:0002783	Recurrent lower respiratory tract infections	29851	ICOS	ORPHA:1572
HP:0002783	Recurrent lower respiratory tract infections	29851	ICOS	OMIM:607594
HP:0002783	Recurrent lower respiratory tract infections	930	CD19	OMIM:240500
HP:0002783	Recurrent lower respiratory tract infections	930	CD19	ORPHA:1572
HP:0002783	Recurrent lower respiratory tract infections	23495	TNFRSF13B	OMIM:240500
HP:0002783	Recurrent lower respiratory tract infections	23495	TNFRSF13B	ORPHA:1572
HP:0002783	Recurrent lower respiratory tract infections	1380	CR2	OMIM:240500
HP:0002783	Recurrent lower respiratory tract infections	1380	CR2	ORPHA:1572
HP:0002783	Recurrent lower respiratory tract infections	84061	MAGT1	OMIM:300853
HP:0002783	Recurrent lower respiratory tract infections	4256	MGP	OMIM:245150
HP:0002783	Recurrent lower respiratory tract infections	6103	RPGR	OMIM:300455
HP:0002783	Recurrent lower respiratory tract infections	123872	DNAAF1	OMIM:613193
HP:0002783	Recurrent lower respiratory tract infections	4683	NBN	OMIM:251260
HP:0002783	Recurrent lower respiratory tract infections	23308	ICOSLG	OMIM:620825
HP:0002783	Recurrent lower respiratory tract infections	23765	IL17RA	OMIM:613953
HP:0002783	Recurrent lower respiratory tract infections	3588	IL10RB	OMIM:612567
HP:0002783	Recurrent lower respiratory tract infections	6890	TAP1	OMIM:604571
HP:0002783	Recurrent lower respiratory tract infections	3561	IL2RG	OMIM:312863
HP:0002783	Recurrent lower respiratory tract infections	974	CD79B	OMIM:612692
HP:0002783	Recurrent lower respiratory tract infections	4790	NFKB1	ORPHA:1572
HP:0002783	Recurrent lower respiratory tract infections	8742	TNFSF12	ORPHA:1572
HP:0002783	Recurrent lower respiratory tract infections	931	MS4A1	ORPHA:1572
HP:0002783	Recurrent lower respiratory tract infections	975	CD81	ORPHA:1572
HP:0002783	Recurrent lower respiratory tract infections	359948	IRF2BP2	ORPHA:1572
HP:0002783	Recurrent lower respiratory tract infections	6901	TAFAZZIN	OMIM:302060
HP:0002783	Recurrent lower respiratory tract infections	26834	RNU4-2	OMIM:620851
HP:0002783	Recurrent lower respiratory tract infections	91039	DPP9	OMIM:620331
HP:0002783	Recurrent lower respiratory tract infections	79158	GNPTAB	OMIM:252500
HP:0002783	Recurrent lower respiratory tract infections	64864	RFX7	OMIM:620330
HP:0002783	Recurrent lower respiratory tract infections	100	ADA	ORPHA:277
HP:0002783	Recurrent lower respiratory tract infections	100	ADA	OMIM:102700
HP:0002783	Recurrent lower respiratory tract infections	3476	IGBP1	OMIM:300472
HP:0002783	Recurrent lower respiratory tract infections	2137	EXTL3	ORPHA:508533
HP:0002783	Recurrent lower respiratory tract infections	2137	EXTL3	OMIM:617425
HP:0002783	Recurrent lower respiratory tract infections	4921	DDR2	OMIM:271665
HP:0002783	Recurrent lower respiratory tract infections	3763	KCNJ6	ORPHA:435628
HP:0002783	Recurrent lower respiratory tract infections	3763	KCNJ6	OMIM:614098
HP:0002783	Recurrent lower respiratory tract infections	83538	ODAD4	OMIM:617092
HP:0002783	Recurrent lower respiratory tract infections	5351	PLOD1	OMIM:225400
HP:0002783	Recurrent lower respiratory tract infections	5351	PLOD1	ORPHA:1900
HP:0002783	Recurrent lower respiratory tract infections	6477	SIAH1	OMIM:619314
HP:0002783	Recurrent lower respiratory tract infections	5993	RFX5	OMIM:620816
HP:0002783	Recurrent lower respiratory tract infections	5994	RFXAP	OMIM:620817
HP:0002783	Recurrent lower respiratory tract infections	4688	NCF2	OMIM:233710
HP:0002783	Recurrent lower respiratory tract infections	8425	LTBP4	OMIM:613177
HP:0002783	Recurrent lower respiratory tract infections	5238	PGM3	ORPHA:443811
HP:0002783	Recurrent lower respiratory tract infections	27148	STK36	OMIM:619436
HP:0002783	Recurrent lower respiratory tract infections	11133	KPTN	OMIM:615637
HP:0002783	Recurrent lower respiratory tract infections	11133	KPTN	ORPHA:397612
HP:0002783	Recurrent lower respiratory tract infections	57539	WDR35	OMIM:613610
HP:0002783	Recurrent lower respiratory tract infections	81857	MED25	OMIM:616449
HP:0002783	Recurrent lower respiratory tract infections	81857	MED25	ORPHA:464738
HP:0002783	Recurrent lower respiratory tract infections	100151683	RNU4ATAC	ORPHA:353298
HP:0002783	Recurrent lower respiratory tract infections	100151683	RNU4ATAC	OMIM:616651
HP:0002783	Recurrent lower respiratory tract infections	987	LRBA	OMIM:614700
HP:0002783	Recurrent lower respiratory tract infections	755	CFAP410	OMIM:602271
HP:0002783	Recurrent lower respiratory tract infections	9094	UNC119	OMIM:615518
HP:0002783	Recurrent lower respiratory tract infections	126792	B3GALT6	OMIM:609465
HP:0002783	Recurrent lower respiratory tract infections	79650	USB1	OMIM:604173
HP:0002783	Recurrent lower respiratory tract infections	5293	PIK3CD	OMIM:619281
HP:0002783	Recurrent lower respiratory tract infections	6720	SREBF1	OMIM:158310
HP:0002783	Recurrent lower respiratory tract infections	1302	COL11A2	OMIM:215150
HP:0002783	Recurrent lower respiratory tract infections	54768	HYDIN	OMIM:608647
HP:0002783	Recurrent lower respiratory tract infections	4522	MTHFD1	OMIM:617780
HP:0002783	Recurrent lower respiratory tract infections	161582	DNAAF4	OMIM:615482
HP:0002783	Recurrent lower respiratory tract infections	9948	WDR1	OMIM:150550
HP:0002783	Recurrent lower respiratory tract infections	939	CD27	OMIM:615122
HP:0002783	Recurrent lower respiratory tract infections	23149	FCHO1	OMIM:619164
HP:0002783	Recurrent lower respiratory tract infections	10157	AASS	ORPHA:2203
HP:0002783	Recurrent lower respiratory tract infections	5184	PEPD	OMIM:170100
HP:0002783	Recurrent lower respiratory tract infections	65082	VPS33A	OMIM:617303
HP:0002783	Recurrent lower respiratory tract infections	3543	IGLL1	OMIM:613500
HP:0002783	Recurrent lower respiratory tract infections	29760	BLNK	OMIM:613502
HP:0002783	Recurrent lower respiratory tract infections	56246	MRAP	OMIM:607398
HP:0002783	Recurrent lower respiratory tract infections	8382	NME5	OMIM:620032
HP:0002783	Recurrent lower respiratory tract infections	6440	SFTPC	OMIM:610913
HP:0002783	Recurrent lower respiratory tract infections	3417	IDH1	ORPHA:99646
HP:0002783	Recurrent lower respiratory tract infections	6904	TBCD	ORPHA:496641
HP:0002783	Recurrent lower respiratory tract infections	2212	FCGR2A	OMIM:219700
HP:0002783	Recurrent lower respiratory tract infections	915	CD3D	ORPHA:169160
HP:0002783	Recurrent lower respiratory tract infections	916	CD3E	ORPHA:169160
HP:0002783	Recurrent lower respiratory tract infections	916	CD3E	OMIM:615615
HP:0002783	Recurrent lower respiratory tract infections	919	CD247	ORPHA:169160
HP:0002783	Recurrent lower respiratory tract infections	919	CD247	OMIM:610163
HP:0002783	Recurrent lower respiratory tract infections	4001	LMNB1	OMIM:619179
HP:0002783	Recurrent lower respiratory tract infections	7084	TK2	ORPHA:254875
HP:0002783	Recurrent lower respiratory tract infections	1956	EGFR	OMIM:616069
HP:0002783	Recurrent lower respiratory tract infections	3952	LEP	OMIM:614962
HP:0002783	Recurrent lower respiratory tract infections	6786	STIM1	OMIM:612783
HP:0002783	Recurrent lower respiratory tract infections	8792	TNFRSF11A	OMIM:612301
HP:0002783	Recurrent lower respiratory tract infections	10095	ARPC1B	OMIM:617718
HP:0002783	Recurrent lower respiratory tract infections	7840	ALMS1	OMIM:203800
HP:0002783	Recurrent lower respiratory tract infections	7840	ALMS1	ORPHA:64
HP:0002783	Recurrent lower respiratory tract infections	7080	NKX2-1	ORPHA:209905
HP:0002783	Recurrent lower respiratory tract infections	8546	AP3B1	OMIM:608233
HP:0002783	Recurrent lower respiratory tract infections	79087	ALG12	OMIM:607143
HP:0002783	Recurrent lower respiratory tract infections	79087	ALG12	ORPHA:79324
HP:0002783	Recurrent lower respiratory tract infections	6899	TBX1	OMIM:188400
HP:0002783	Recurrent lower respiratory tract infections	7852	CXCR4	ORPHA:51636
HP:0002783	Recurrent lower respiratory tract infections	1053	CEBPE	OMIM:245480
HP:0002783	Recurrent lower respiratory tract infections	54681	P4HTM	OMIM:618493
HP:0002783	Recurrent lower respiratory tract infections	146206	CARMIL2	OMIM:618131
HP:0002783	Recurrent lower respiratory tract infections	79415	CYBC1	OMIM:618935
HP:0002783	Recurrent lower respiratory tract infections	653361	NCF1	OMIM:233700
HP:0002783	Recurrent lower respiratory tract infections	23594	ORC6	OMIM:613803
HP:0002783	Recurrent lower respiratory tract infections	26040	SETBP1	ORPHA:798
HP:0002783	Recurrent lower respiratory tract infections	55036	CCDC40	OMIM:613808
HP:0002783	Recurrent lower respiratory tract infections	339829	CCDC39	OMIM:613807
HP:0002783	Recurrent lower respiratory tract infections	2074	ERCC6	OMIM:214150
HP:0002783	Recurrent lower respiratory tract infections	2328	FMO3	OMIM:602079
HP:0002783	Recurrent lower respiratory tract infections	3572	IL6ST	OMIM:619752
HP:0002783	Recurrent lower respiratory tract infections	3572	IL6ST	OMIM:619750
HP:0002783	Recurrent lower respiratory tract infections	2588	GALNS	OMIM:253000
HP:0002783	Recurrent lower respiratory tract infections	718	C3	OMIM:613779
HP:0002783	Recurrent lower respiratory tract infections	4796	TONSL	ORPHA:93357
HP:0002783	Recurrent lower respiratory tract infections	3507	IGHM	OMIM:601495
HP:0002783	Recurrent lower respiratory tract infections	5971	RELB	OMIM:617585
HP:0002783	Recurrent lower respiratory tract infections	50615	IL21R	OMIM:615207
HP:0002783	Recurrent lower respiratory tract infections	8701	DNAH11	OMIM:611884
HP:0002783	Recurrent lower respiratory tract infections	51341	ZBTB7A	OMIM:619769
HP:0002783	Recurrent lower respiratory tract infections	199221	DZIP1L	ORPHA:731
HP:0002783	Recurrent lower respiratory tract infections	5314	PKHD1	ORPHA:731
HP:0002783	Recurrent lower respiratory tract infections	55343	SLC35C1	ORPHA:99843
HP:0002783	Recurrent lower respiratory tract infections	84905	ZNF341	OMIM:618282
HP:0002783	Recurrent lower respiratory tract infections	5422	POLA1	OMIM:301220
HP:0002783	Recurrent lower respiratory tract infections	92749	DRC1	OMIM:615294
HP:0002783	Recurrent lower respiratory tract infections	5317	PKP1	ORPHA:158668
HP:0002783	Recurrent lower respiratory tract infections	54941	RNF125	OMIM:616260
HP:0002783	Recurrent lower respiratory tract infections	3423	IDS	OMIM:309900
HP:0002783	Recurrent lower respiratory tract infections	5879	RAC1	OMIM:617751
HP:0002783	Recurrent lower respiratory tract infections	5879	RAC1	ORPHA:500159
HP:0002783	Recurrent lower respiratory tract infections	6603	SMARCD2	OMIM:617475
HP:0002783	Recurrent lower respiratory tract infections	55130	ODAD2	OMIM:615451
HP:0002783	Recurrent lower respiratory tract infections	10747	MASP2	OMIM:613791
HP:0002783	Recurrent lower respiratory tract infections	27040	LAT	OMIM:617514
HP:0002783	Recurrent lower respiratory tract infections	4052	LTBP1	ORPHA:90349
HP:0002783	Recurrent lower respiratory tract infections	30008	EFEMP2	ORPHA:90349
HP:0002783	Recurrent lower respiratory tract infections	10516	FBLN5	ORPHA:90349
HP:0002783	Recurrent lower respiratory tract infections	84466	MEGF10	OMIM:620249
HP:0002783	Recurrent lower respiratory tract infections	1535	CYBA	OMIM:233690
HP:0002783	Recurrent lower respiratory tract infections	79645	CLXN	OMIM:620642
HP:0002783	Recurrent lower respiratory tract infections	1536	CYBB	OMIM:306400
HP:0002783	Recurrent lower respiratory tract infections	81704	DOCK8	OMIM:243700
HP:0002783	Recurrent lower respiratory tract infections	81570	CLPB	OMIM:616271
HP:0002783	Recurrent lower respiratory tract infections	93233	ODAD1	OMIM:615067
HP:0002783	Recurrent lower respiratory tract infections	57728	WDR19	OMIM:614378
HP:0002783	Recurrent lower respiratory tract infections	721	C4B	OMIM:614379
HP:0002783	Recurrent lower respiratory tract infections	1794	DOCK2	OMIM:616433
HP:0002783	Recurrent lower respiratory tract infections	284119	CAVIN1	OMIM:613327
HP:0002783	Recurrent lower respiratory tract infections	6929	TCF3	OMIM:619824
HP:0002783	Recurrent lower respiratory tract infections	871	SERPINH1	OMIM:613848
HP:0002783	Recurrent lower respiratory tract infections	55294	FBXW7	OMIM:620012
HP:0002783	Recurrent lower respiratory tract infections	165918	RNF168	ORPHA:420741
HP:0002783	Recurrent lower respiratory tract infections	5813	PURA	ORPHA:314655
HP:0002783	Recurrent lower respiratory tract infections	2737	GLI3	ORPHA:672
HP:0002783	Recurrent lower respiratory tract infections	5896	RAG1	ORPHA:331206
HP:0002783	Recurrent lower respiratory tract infections	5897	RAG2	ORPHA:331206
HP:0002783	Recurrent lower respiratory tract infections	4247	MGAT2	ORPHA:79329
HP:0002783	Recurrent lower respiratory tract infections	8239	USP9X	ORPHA:480880
HP:0002783	Recurrent lower respiratory tract infections	57379	AICDA	OMIM:605258
HP:0002783	Recurrent lower respiratory tract infections	64421	DCLRE1C	ORPHA:275
HP:0002783	Recurrent lower respiratory tract infections	7374	UNG	OMIM:608106
HP:0002783	Recurrent lower respiratory tract infections	29969	MDFIC	OMIM:620014
HP:0002783	Recurrent lower respiratory tract infections	7535	ZAP70	ORPHA:911
HP:0002783	Recurrent lower respiratory tract infections	5728	PTEN	ORPHA:397596
HP:0005957	Breathing dysregulation	54806	AHI1	OMIM:608629
HP:0005957	Breathing dysregulation	23322	RPGRIP1L	OMIM:611560
HP:0005957	Breathing dysregulation	80184	CEP290	OMIM:610188
HP:0005957	Breathing dysregulation	51259	TMEM216	OMIM:608091
HP:0005957	Breathing dysregulation	56623	INPP5E	OMIM:213300
HP:0005957	Breathing dysregulation	8518	ELP1	OMIM:223900
HP:0005957	Breathing dysregulation	7092	TLL1	ORPHA:99103
HP:0005957	Breathing dysregulation	57057	TBX20	ORPHA:99103
HP:0005957	Breathing dysregulation	4624	MYH6	ORPHA:99103
HP:0005957	Breathing dysregulation	1482	NKX2-5	ORPHA:99103
HP:0005957	Breathing dysregulation	70	ACTC1	ORPHA:99103
HP:0005957	Breathing dysregulation	10370	CITED2	ORPHA:99103
HP:0005957	Breathing dysregulation	2626	GATA4	ORPHA:99103
HP:0005957	Breathing dysregulation	2627	GATA6	ORPHA:99103
HP:0005957	Breathing dysregulation	91147	TMEM67	OMIM:610688
HP:0005957	Breathing dysregulation	8942	KYNU	ORPHA:79155
HP:0005957	Breathing dysregulation	5979	RET	ORPHA:99803
HP:0005957	Breathing dysregulation	429	ASCL1	ORPHA:99803
HP:0005957	Breathing dysregulation	8929	PHOX2B	ORPHA:99803
HP:0005957	Breathing dysregulation	4726	NDUFS6	OMIM:618232
HP:0005959	Impaired gluconeogenesis	5105	PCK1	OMIM:261680
HP:0005959	Impaired gluconeogenesis	6584	SLC22A5	OMIM:212140
HP:0005959	Impaired gluconeogenesis	5106	PCK2	OMIM:261650
HP:0002700	Large foramen magnum	2033	EP300	OMIM:180849
HP:0002700	Large foramen magnum	1387	CREBBP	OMIM:180849
HP:0002700	Large foramen magnum	29899	GPSM2	OMIM:604213
HP:0002700	Large foramen magnum	2316	FLNA	OMIM:305620
HP:0002700	Large foramen magnum	860	RUNX2	OMIM:119600
HP:0002700	Large foramen magnum	51715	RAB23	OMIM:201000
HP:0005474	Decreased calvarial ossification	9896	FIG4	OMIM:216340
HP:0005474	Decreased calvarial ossification	249	ALPL	OMIM:241500
HP:0005474	Decreased calvarial ossification	2263	FGFR2	OMIM:614592
HP:0005474	Decreased calvarial ossification	2263	FGFR2	ORPHA:313855
HP:0005474	Decreased calvarial ossification	5530	PPP3CA	OMIM:618265
HP:0005474	Decreased calvarial ossification	112752	IFT43	OMIM:617866
HP:0005474	Decreased calvarial ossification	10491	CRTAP	OMIM:610682
HP:0005474	Decreased calvarial ossification	27152	INTU	OMIM:617925
HP:0005474	Decreased calvarial ossification	90993	CREB3L1	OMIM:616229
HP:0005474	Decreased calvarial ossification	79770	TXNDC15	OMIM:619879
HP:0005474	Decreased calvarial ossification	7476	WNT7A	OMIM:276820
HP:0005474	Decreased calvarial ossification	5479	PPIB	OMIM:259440
HP:0005474	Decreased calvarial ossification	871	SERPINH1	OMIM:613848
HP:0005474	Decreased calvarial ossification	1277	COL1A1	OMIM:259420
HP:0005474	Decreased calvarial ossification	1278	COL1A2	OMIM:259420
HP:0005474	Decreased calvarial ossification	10269	ZMPSTE24	OMIM:275210
HP:0005474	Decreased calvarial ossification	3911	LAMA5	OMIM:620076
HP:0005474	Decreased calvarial ossification	64175	P3H1	OMIM:610915
HP:0002703	Abnormality of skull ossification	6448	SGSH	OMIM:252900
HP:0002703	Abnormality of skull ossification	138050	HGSNAT	OMIM:252930
HP:0002703	Abnormality of skull ossification	4669	NAGLU	OMIM:252920
HP:0002703	Abnormality of skull ossification	55733	HHAT	ORPHA:1422
HP:0002703	Abnormality of skull ossification	5934	RBL2	OMIM:619690
HP:0002703	Abnormality of skull ossification	1436	CSF1R	OMIM:618476
HP:0002703	Abnormality of skull ossification	28962	OSTM1	ORPHA:85179
HP:0002703	Abnormality of skull ossification	3930	LBR	OMIM:215140
HP:0002703	Abnormality of skull ossification	3930	LBR	ORPHA:1426
HP:0002703	Abnormality of skull ossification	9321	TRIP11	OMIM:200600
HP:0002703	Abnormality of skull ossification	6905	TBCE	OMIM:244460
HP:0002703	Abnormality of skull ossification	6905	TBCE	ORPHA:93324
HP:0002703	Abnormality of skull ossification	10484	SEC23A	ORPHA:50814
HP:0002703	Abnormality of skull ossification	4000	LMNA	ORPHA:1662
HP:0002703	Abnormality of skull ossification	10269	ZMPSTE24	ORPHA:1662
HP:0002703	Abnormality of skull ossification	2132	EXT2	ORPHA:52022
HP:0002703	Abnormality of skull ossification	60529	ALX4	ORPHA:52022
HP:0002703	Abnormality of skull ossification	51317	PHF21A	ORPHA:52022
HP:0002703	Abnormality of skull ossification	9896	FIG4	OMIM:216340
HP:0002703	Abnormality of skull ossification	9896	FIG4	ORPHA:3472
HP:0002703	Abnormality of skull ossification	55697	VAC14	ORPHA:3472
HP:0002703	Abnormality of skull ossification	10013	HDAC6	OMIM:300863
HP:0002703	Abnormality of skull ossification	79796	ALG9	OMIM:263210
HP:0002703	Abnormality of skull ossification	202018	TAPT1	OMIM:616897
HP:0002703	Abnormality of skull ossification	4352	MPL	ORPHA:3319
HP:0002703	Abnormality of skull ossification	7066	THPO	ORPHA:3319
HP:0002703	Abnormality of skull ossification	860	RUNX2	ORPHA:1452
HP:0002703	Abnormality of skull ossification	84168	ANTXR1	ORPHA:2067
HP:0002703	Abnormality of skull ossification	4853	NOTCH2	ORPHA:955
HP:0002703	Abnormality of skull ossification	60386	SLC25A19	ORPHA:99742
HP:0002703	Abnormality of skull ossification	63901	FAM111A	ORPHA:93325
HP:0002703	Abnormality of skull ossification	63901	FAM111A	OMIM:602361
HP:0002703	Abnormality of skull ossification	29957	SLC25A24	ORPHA:2963
HP:0002703	Abnormality of skull ossification	168667	BMPER	OMIM:608022
HP:0002703	Abnormality of skull ossification	64175	P3H1	OMIM:610915
HP:0002703	Abnormality of skull ossification	7415	VCP	ORPHA:329475
HP:0002703	Abnormality of skull ossification	1280	COL2A1	OMIM:151210
HP:0002703	Abnormality of skull ossification	249	ALPL	OMIM:241500
HP:0002703	Abnormality of skull ossification	2263	FGFR2	OMIM:614592
HP:0002703	Abnormality of skull ossification	2263	FGFR2	ORPHA:313855
HP:0002703	Abnormality of skull ossification	5530	PPP3CA	OMIM:618265
HP:0002703	Abnormality of skull ossification	112752	IFT43	OMIM:617866
HP:0002703	Abnormality of skull ossification	10491	CRTAP	OMIM:610682
HP:0002703	Abnormality of skull ossification	27152	INTU	OMIM:617925
HP:0002703	Abnormality of skull ossification	90993	CREB3L1	OMIM:616229
HP:0002703	Abnormality of skull ossification	79770	TXNDC15	OMIM:619879
HP:0002703	Abnormality of skull ossification	7476	WNT7A	OMIM:276820
HP:0002703	Abnormality of skull ossification	5479	PPIB	OMIM:259440
HP:0002703	Abnormality of skull ossification	871	SERPINH1	OMIM:613848
HP:0002703	Abnormality of skull ossification	1277	COL1A1	OMIM:259420
HP:0002703	Abnormality of skull ossification	1278	COL1A2	OMIM:259420
HP:0002703	Abnormality of skull ossification	3911	LAMA5	OMIM:620076
HP:0000270	Delayed cranial suture closure	7291	TWIST1	ORPHA:794
HP:0000270	Delayed cranial suture closure	7291	TWIST1	OMIM:101400
HP:0000270	Delayed cranial suture closure	2263	FGFR2	ORPHA:794
HP:0000270	Delayed cranial suture closure	2263	FGFR2	OMIM:101400
HP:0000270	Delayed cranial suture closure	2263	FGFR2	OMIM:101200
HP:0000270	Delayed cranial suture closure	2261	FGFR3	ORPHA:794
HP:0000270	Delayed cranial suture closure	3981	LIG4	ORPHA:235
HP:0000270	Delayed cranial suture closure	54888	NSUN2	ORPHA:235
HP:0000270	Delayed cranial suture closure	9791	PTDSS1	OMIM:151050
HP:0000270	Delayed cranial suture closure	9791	PTDSS1	ORPHA:2658
HP:0000270	Delayed cranial suture closure	538	ATP7A	ORPHA:198
HP:0000270	Delayed cranial suture closure	10269	ZMPSTE24	OMIM:608612
HP:0000270	Delayed cranial suture closure	5626	PROP1	ORPHA:226307
HP:0000270	Delayed cranial suture closure	89884	LHX4	ORPHA:226307
HP:0000270	Delayed cranial suture closure	8022	LHX3	ORPHA:226307
HP:0000270	Delayed cranial suture closure	5449	POU1F1	ORPHA:226307
HP:0000270	Delayed cranial suture closure	5449	POU1F1	OMIM:613038
HP:0000270	Delayed cranial suture closure	8820	HESX1	ORPHA:226307
HP:0000270	Delayed cranial suture closure	2033	EP300	OMIM:180849
HP:0000270	Delayed cranial suture closure	1387	CREBBP	OMIM:180849
HP:0000270	Delayed cranial suture closure	2737	GLI3	OMIM:175700
HP:0000270	Delayed cranial suture closure	5832	ALDH18A1	OMIM:616603
HP:0000270	Delayed cranial suture closure	5832	ALDH18A1	ORPHA:90348
HP:0000270	Delayed cranial suture closure	7545	ZIC1	OMIM:616602
HP:0000270	Delayed cranial suture closure	5590	PRKCZ	ORPHA:1606
HP:0000270	Delayed cranial suture closure	2563	GABRD	ORPHA:1606
HP:0000270	Delayed cranial suture closure	23013	SPEN	ORPHA:1606
HP:0000270	Delayed cranial suture closure	8510	MMP23B	ORPHA:1606
HP:0000270	Delayed cranial suture closure	7798	LUZP1	ORPHA:1606
HP:0000270	Delayed cranial suture closure	6497	SKI	ORPHA:1606
HP:0000270	Delayed cranial suture closure	10630	PDPN	ORPHA:1606
HP:0000270	Delayed cranial suture closure	3339	HSPG2	ORPHA:1606
HP:0000270	Delayed cranial suture closure	10277	UBE4B	ORPHA:1606
HP:0000270	Delayed cranial suture closure	8514	KCNAB2	ORPHA:1606
HP:0000270	Delayed cranial suture closure	473	RERE	ORPHA:1606
HP:0000270	Delayed cranial suture closure	63976	PRDM16	ORPHA:1606
HP:0000270	Delayed cranial suture closure	54897	CASZ1	ORPHA:1606
HP:0000270	Delayed cranial suture closure	79796	ALG9	ORPHA:79328
HP:0000270	Delayed cranial suture closure	113189	CHST14	OMIM:601776
HP:0000270	Delayed cranial suture closure	267010	RNU12	OMIM:603116
HP:0000270	Delayed cranial suture closure	267010	RNU12	ORPHA:85199
HP:0000270	Delayed cranial suture closure	4094	MAF	ORPHA:1272
HP:0000270	Delayed cranial suture closure	4094	MAF	OMIM:601088
HP:0000270	Delayed cranial suture closure	285590	SH3PXD2B	OMIM:249420
HP:0000270	Delayed cranial suture closure	5159	PDGFRB	OMIM:601812
HP:0000270	Delayed cranial suture closure	10651	MTX2	OMIM:619127
HP:0000270	Delayed cranial suture closure	29998	BICRA	OMIM:619325
HP:0000270	Delayed cranial suture closure	4920	ROR2	OMIM:113000
HP:0000270	Delayed cranial suture closure	4920	ROR2	OMIM:268310
HP:0000270	Delayed cranial suture closure	4000	LMNA	OMIM:248370
HP:0000270	Delayed cranial suture closure	2316	FLNA	ORPHA:2484
HP:0000270	Delayed cranial suture closure	2316	FLNA	OMIM:309350
HP:0000270	Delayed cranial suture closure	56975	FAM20C	ORPHA:1832
HP:0000270	Delayed cranial suture closure	7252	TSHB	ORPHA:90674
HP:0000270	Delayed cranial suture closure	54941	RNF125	OMIM:616260
HP:0000270	Delayed cranial suture closure	8260	NAA10	OMIM:300855
HP:0000270	Delayed cranial suture closure	8260	NAA10	ORPHA:276432
HP:0000270	Delayed cranial suture closure	405753	DUOXA2	ORPHA:95716
HP:0000270	Delayed cranial suture closure	6528	SLC5A5	ORPHA:95716
HP:0000270	Delayed cranial suture closure	7038	TG	ORPHA:95716
HP:0000270	Delayed cranial suture closure	7173	TPO	ORPHA:95716
HP:0000270	Delayed cranial suture closure	389434	IYD	ORPHA:95716
HP:0000270	Delayed cranial suture closure	50506	DUOX2	ORPHA:95716
HP:0000270	Delayed cranial suture closure	7874	USP7	OMIM:616863
HP:0000270	Delayed cranial suture closure	84168	ANTXR1	OMIM:230740
HP:0000270	Delayed cranial suture closure	10491	CRTAP	OMIM:610682
HP:0000270	Delayed cranial suture closure	2006	ELN	ORPHA:90348
HP:0000270	Delayed cranial suture closure	10516	FBLN5	ORPHA:90348
HP:0000270	Delayed cranial suture closure	5557	PRIM1	OMIM:620005
HP:0000270	Delayed cranial suture closure	3295	HSD17B4	OMIM:261515
HP:0000270	Delayed cranial suture closure	3481	IGF2	OMIM:180860
HP:0000270	Delayed cranial suture closure	71	ACTG1	ORPHA:2995
HP:0000270	Delayed cranial suture closure	60	ACTB	ORPHA:2995
HP:0000270	Delayed cranial suture closure	6223	RPS19	OMIM:105650
HP:0000270	Delayed cranial suture closure	1513	CTSK	ORPHA:763
HP:0000270	Delayed cranial suture closure	129285	PPP1R21	OMIM:619383
HP:0000270	Delayed cranial suture closure	1656	DDX6	OMIM:618653
HP:0000270	Delayed cranial suture closure	23545	ATP6V0A2	OMIM:278250
HP:0000270	Delayed cranial suture closure	139285	AMER1	ORPHA:2780
HP:0000270	Delayed cranial suture closure	6905	TBCE	ORPHA:93324
HP:0000270	Delayed cranial suture closure	63901	FAM111A	ORPHA:93325
HP:0000270	Delayed cranial suture closure	6197	RPS6KA3	OMIM:303600
HP:0000270	Delayed cranial suture closure	443	ASPA	OMIM:271900
HP:0000270	Delayed cranial suture closure	9759	HDAC4	OMIM:619797
HP:0000270	Delayed cranial suture closure	523	ATP6V1A	ORPHA:357074
HP:0000270	Delayed cranial suture closure	529	ATP6V1E1	ORPHA:357074
HP:0000270	Delayed cranial suture closure	54892	NCAPG2	OMIM:618460
HP:0000270	Delayed cranial suture closure	8815	BANF1	OMIM:614008
HP:0000270	Delayed cranial suture closure	5824	PEX19	OMIM:614886
HP:0000270	Delayed cranial suture closure	5195	PEX14	OMIM:614887
HP:0000270	Delayed cranial suture closure	11128	POLR3A	OMIM:264090
HP:0000270	Delayed cranial suture closure	4313	MMP2	OMIM:259600
HP:0000270	Delayed cranial suture closure	2887	GRB10	ORPHA:96182
HP:0000270	Delayed cranial suture closure	283120	H19	ORPHA:231140
HP:0000270	Delayed cranial suture closure	10484	SEC23A	OMIM:607812
HP:0000270	Delayed cranial suture closure	1277	COL1A1	OMIM:130060
HP:0000270	Delayed cranial suture closure	9509	ADAMTS2	OMIM:225410
HP:0000270	Delayed cranial suture closure	7543	ZFX	OMIM:301118
HP:0000270	Delayed cranial suture closure	114548	NLRP3	ORPHA:1451
HP:0000270	Delayed cranial suture closure	9968	MED12	OMIM:305450
HP:0000270	Delayed cranial suture closure	9126	SMC3	OMIM:610759
HP:0000270	Delayed cranial suture closure	5828	PEX2	OMIM:614866
HP:0000270	Delayed cranial suture closure	29123	ANKRD11	ORPHA:2332
HP:0000270	Delayed cranial suture closure	54543	TOMM7	OMIM:620601
HP:0000270	Delayed cranial suture closure	860	RUNX2	OMIM:119600
HP:0000270	Delayed cranial suture closure	2688	GH1	OMIM:262400
HP:0000270	Delayed cranial suture closure	29940	DSE	OMIM:615539
HP:0002705	High, narrow palate	5979	RET	OMIM:162300
HP:0002705	High, narrow palate	23013	SPEN	OMIM:619312
HP:0002705	High, narrow palate	8367	H4C5	OMIM:619950
HP:0002705	High, narrow palate	161742	SPRED1	OMIM:611431
HP:0002705	High, narrow palate	23394	ADNP	OMIM:615873
HP:0002705	High, narrow palate	2261	FGFR3	ORPHA:53271
HP:0002705	High, narrow palate	2200	FBN1	ORPHA:284979
HP:0002705	High, narrow palate	2200	FBN1	OMIM:616914
HP:0002705	High, narrow palate	2200	FBN1	ORPHA:2462
HP:0002705	High, narrow palate	2200	FBN1	ORPHA:91387
HP:0002705	High, narrow palate	5447	POR	ORPHA:95699
HP:0002705	High, narrow palate	3190	HNRNPK	ORPHA:453504
HP:0002705	High, narrow palate	3190	HNRNPK	ORPHA:352665
HP:0002705	High, narrow palate	1301	COL11A1	OMIM:604841
HP:0002705	High, narrow palate	116931	MED12L	OMIM:618872
HP:0002705	High, narrow palate	91179	SCARF2	OMIM:600920
HP:0002705	High, narrow palate	58	ACTA1	ORPHA:171433
HP:0002705	High, narrow palate	4703	NEB	ORPHA:171433
HP:0002705	High, narrow palate	10324	KLHL41	ORPHA:171433
HP:0002705	High, narrow palate	7170	TPM3	ORPHA:171433
HP:0002705	High, narrow palate	613	BCR	ORPHA:261330
HP:0002705	High, narrow palate	1399	CRKL	ORPHA:261330
HP:0002705	High, narrow palate	5594	MAPK1	ORPHA:261330
HP:0002705	High, narrow palate	57520	HECW2	OMIM:617268
HP:0002705	High, narrow palate	51506	UFC1	OMIM:618076
HP:0002705	High, narrow palate	5830	PEX5	OMIM:202370
HP:0002705	High, narrow palate	129563	DIS3L2	ORPHA:2849
HP:0002705	High, narrow palate	137682	NDUFAF6	OMIM:618239
HP:0002705	High, narrow palate	55780	ERMARD	ORPHA:75857
HP:0002705	High, narrow palate	26153	KIF26A	OMIM:620156
HP:0002705	High, narrow palate	5189	PEX1	OMIM:214100
HP:0002705	High, narrow palate	4038	LRP4	ORPHA:3258
HP:0002705	High, narrow palate	324	APC	ORPHA:3258
HP:0002705	High, narrow palate	57551	TAOK1	OMIM:619575
HP:0002705	High, narrow palate	8888	MCM3AP	OMIM:618124
HP:0002705	High, narrow palate	64324	NSD1	OMIM:117550
HP:0002705	High, narrow palate	4141	MARS1	OMIM:619692
HP:0002705	High, narrow palate	1272	CNTN1	OMIM:612540
HP:0002705	High, narrow palate	81857	MED25	ORPHA:464738
HP:0002705	High, narrow palate	93986	FOXP2	ORPHA:209908
HP:0002705	High, narrow palate	2260	FGFR1	OMIM:190440
HP:0002705	High, narrow palate	84100	ARL6	OMIM:209900
HP:0002705	High, narrow palate	79140	CCDC28B	OMIM:209900
HP:0002705	High, narrow palate	582	BBS1	OMIM:209900
HP:0002705	High, narrow palate	5351	PLOD1	ORPHA:1900
HP:0002705	High, narrow palate	81620	CDT1	ORPHA:2554
HP:0002705	High, narrow palate	5000	ORC4	ORPHA:2554
HP:0002705	High, narrow palate	23594	ORC6	ORPHA:2554
HP:0002705	High, narrow palate	8318	CDC45	ORPHA:2554
HP:0002705	High, narrow palate	990	CDC6	ORPHA:2554
HP:0002705	High, narrow palate	4998	ORC1	ORPHA:2554
HP:0002705	High, narrow palate	51053	GMNN	ORPHA:2554
HP:0002705	High, narrow palate	55764	IFT122	OMIM:218330
HP:0002705	High, narrow palate	157680	VPS13B	OMIM:216550
HP:0002705	High, narrow palate	157680	VPS13B	ORPHA:193
HP:0002705	High, narrow palate	8604	SLC25A12	OMIM:612949
HP:0002705	High, narrow palate	6899	TBX1	OMIM:188400
HP:0002705	High, narrow palate	1281	COL3A1	ORPHA:286
HP:0002705	High, narrow palate	9896	FIG4	ORPHA:3472
HP:0002705	High, narrow palate	55697	VAC14	ORPHA:3472
HP:0002705	High, narrow palate	860	RUNX2	OMIM:119600
HP:0002705	High, narrow palate	860	RUNX2	ORPHA:1452
HP:0002705	High, narrow palate	5277	PIGA	OMIM:300868
HP:0002705	High, narrow palate	1822	ATN1	OMIM:618494
HP:0002705	High, narrow palate	51305	KCNK9	ORPHA:166108
HP:0002705	High, narrow palate	4854	NOTCH3	ORPHA:2789
HP:0002705	High, narrow palate	93627	TBCK	ORPHA:488632
HP:0002705	High, narrow palate	1954	MEGF8	OMIM:614976
HP:0002705	High, narrow palate	200734	SPRED2	OMIM:619745
HP:0002705	High, narrow palate	89910	UBE3B	ORPHA:2707
HP:0002705	High, narrow palate	5728	PTEN	ORPHA:79076
HP:0002705	High, narrow palate	657	BMPR1A	ORPHA:79076
HP:0002705	High, narrow palate	25942	SIN3A	OMIM:613406
HP:0002705	High, narrow palate	139285	AMER1	ORPHA:2780
HP:0002705	High, narrow palate	9401	RECQL4	OMIM:266280
HP:0002705	High, narrow palate	353116	RILPL1	ORPHA:98897
HP:0002705	High, narrow palate	10755	GIPC1	ORPHA:98897
HP:0002705	High, narrow palate	29967	LRP12	ORPHA:98897
HP:0002705	High, narrow palate	100996717	NOTCH2NLC	ORPHA:98897
HP:0002705	High, narrow palate	6885	MAP3K7	ORPHA:3238
HP:0002705	High, narrow palate	538	ATP7A	ORPHA:198
HP:0002705	High, narrow palate	54880	BCOR	OMIM:309800
HP:0002705	High, narrow palate	8260	NAA10	OMIM:309800
HP:0002705	High, narrow palate	8260	NAA10	ORPHA:276432
HP:0002705	High, narrow palate	4593	MUSK	OMIM:208150
HP:0002705	High, narrow palate	388662	SLC6A17	ORPHA:457212
HP:0002705	High, narrow palate	10526	IPO8	OMIM:619472
HP:0002705	High, narrow palate	8558	CDK10	OMIM:617694
HP:0002705	High, narrow palate	51604	PIGT	ORPHA:369837
HP:0002705	High, narrow palate	6711	SPTBN1	OMIM:619475
HP:0002705	High, narrow palate	56006	SMG9	OMIM:616920
HP:0002705	High, narrow palate	2033	EP300	OMIM:180849
HP:0002705	High, narrow palate	1387	CREBBP	OMIM:180849
HP:0002705	High, narrow palate	1857	DVL3	ORPHA:3107
HP:0002705	High, narrow palate	7474	WNT5A	ORPHA:3107
HP:0002705	High, narrow palate	1855	DVL1	ORPHA:3107
HP:0002705	High, narrow palate	2535	FZD2	ORPHA:3107
HP:0002705	High, narrow palate	27125	AFF4	OMIM:616368
HP:0002705	High, narrow palate	9791	PTDSS1	ORPHA:2658
HP:0002705	High, narrow palate	29957	SLC25A24	OMIM:612289
HP:0002705	High, narrow palate	1303	COL12A1	ORPHA:536516
HP:0002705	High, narrow palate	2887	GRB10	ORPHA:96182
HP:0002705	High, narrow palate	6595	SMARCA2	ORPHA:3051
HP:0002705	High, narrow palate	6595	SMARCA2	OMIM:601358
HP:0002705	High, narrow palate	6872	TAF1	OMIM:300966
HP:0002705	High, narrow palate	368	ABCC6	OMIM:177850
HP:0002705	High, narrow palate	83479	DDX59	ORPHA:2919
HP:0002705	High, narrow palate	4841	NONO	OMIM:300967
HP:0002705	High, narrow palate	4841	NONO	ORPHA:466791
HP:0002705	High, narrow palate	56098	PCDHGC4	OMIM:619880
HP:0002705	High, narrow palate	63895	PIEZO2	OMIM:248700
HP:0002705	High, narrow palate	8813	DPM1	OMIM:608799
HP:0002705	High, narrow palate	8813	DPM1	ORPHA:79322
HP:0002705	High, narrow palate	2239	GPC4	ORPHA:373
HP:0002705	High, narrow palate	2719	GPC3	ORPHA:373
HP:0002705	High, narrow palate	1315	COPB1	OMIM:619255
HP:0002705	High, narrow palate	84168	ANTXR1	OMIM:230740
HP:0002705	High, narrow palate	7476	WNT7A	ORPHA:2879
HP:0002705	High, narrow palate	6611	SMS	OMIM:309583
HP:0002705	High, narrow palate	10020	GNE	ORPHA:3166
HP:0002705	High, narrow palate	404672	GTF2H5	ORPHA:33364
HP:0002705	High, narrow palate	833	CARS1	ORPHA:33364
HP:0002705	High, narrow palate	2068	ERCC2	ORPHA:33364
HP:0002705	High, narrow palate	7737	RNF113A	ORPHA:33364
HP:0002705	High, narrow palate	136647	MPLKIP	ORPHA:33364
HP:0002705	High, narrow palate	6897	TARS1	ORPHA:33364
HP:0002705	High, narrow palate	16	AARS1	ORPHA:33364
HP:0002705	High, narrow palate	2071	ERCC3	ORPHA:33364
HP:0002705	High, narrow palate	2961	GTF2E2	ORPHA:33364
HP:0002705	High, narrow palate	1376	CPT2	ORPHA:228308
HP:0002705	High, narrow palate	26123	TCTN3	ORPHA:2753
HP:0002705	High, narrow palate	9897	WASHC5	ORPHA:7
HP:0002705	High, narrow palate	28952	CCDC22	ORPHA:7
HP:0002705	High, narrow palate	57020	VPS35L	ORPHA:7
HP:0002705	High, narrow palate	56896	DPYSL5	ORPHA:7
HP:0002705	High, narrow palate	101929726	MYMX	OMIM:619941
HP:0002705	High, narrow palate	6497	SKI	ORPHA:2462
HP:0002705	High, narrow palate	196528	ARID2	OMIM:617808
HP:0002705	High, narrow palate	27445	PCLO	OMIM:608027
HP:0002705	High, narrow palate	7042	TGFB2	OMIM:614816
HP:0002705	High, narrow palate	7042	TGFB2	ORPHA:91387
HP:0002705	High, narrow palate	27152	INTU	OMIM:617926
HP:0002705	High, narrow palate	4629	MYH11	ORPHA:91387
HP:0002705	High, narrow palate	7046	TGFBR1	ORPHA:91387
HP:0002705	High, narrow palate	7048	TGFBR2	ORPHA:91387
HP:0002705	High, narrow palate	4015	LOX	ORPHA:91387
HP:0002705	High, narrow palate	4087	SMAD2	ORPHA:91387
HP:0002705	High, narrow palate	7043	TGFB3	ORPHA:91387
HP:0002705	High, narrow palate	4088	SMAD3	ORPHA:91387
HP:0002705	High, narrow palate	4089	SMAD4	ORPHA:91387
HP:0002705	High, narrow palate	59	ACTA2	ORPHA:91387
HP:0002705	High, narrow palate	5592	PRKG1	ORPHA:91387
HP:0002705	High, narrow palate	2301	FOXE3	ORPHA:91387
HP:0002705	High, narrow palate	4144	MAT2A	ORPHA:91387
HP:0002705	High, narrow palate	23493	HEY2	ORPHA:91387
HP:0002705	High, narrow palate	8076	MFAP5	ORPHA:91387
HP:0002705	High, narrow palate	4638	MYLK	ORPHA:91387
HP:0002705	High, narrow palate	79875	THSD4	ORPHA:91387
HP:0002705	High, narrow palate	2006	ELN	ORPHA:91387
HP:0002705	High, narrow palate	84181	CHD6	ORPHA:2108
HP:0002705	High, narrow palate	80816	ASXL3	ORPHA:352577
HP:0002705	High, narrow palate	673	BRAF	OMIM:163950
HP:0002705	High, narrow palate	5604	MAP2K1	OMIM:163950
HP:0002705	High, narrow palate	5781	PTPN11	OMIM:163950
HP:0002705	High, narrow palate	8085	KMT2D	OMIM:147920
HP:0002705	High, narrow palate	7403	KDM6A	OMIM:147920
HP:0000586	Shallow orbits	79158	GNPTAB	ORPHA:576
HP:0000586	Shallow orbits	6497	SKI	OMIM:182212
HP:0000586	Shallow orbits	4784	NFIX	OMIM:602535
HP:0000586	Shallow orbits	2263	FGFR2	ORPHA:87
HP:0000586	Shallow orbits	2263	FGFR2	OMIM:123500
HP:0000586	Shallow orbits	2263	FGFR2	OMIM:101600
HP:0000586	Shallow orbits	2263	FGFR2	OMIM:101400
HP:0000586	Shallow orbits	2263	FGFR2	OMIM:101200
HP:0000586	Shallow orbits	3763	KCNJ6	ORPHA:435628
HP:0000586	Shallow orbits	3763	KCNJ6	OMIM:614098
HP:0000586	Shallow orbits	8925	HERC1	ORPHA:457359
HP:0000586	Shallow orbits	3190	HNRNPK	OMIM:616580
HP:0000586	Shallow orbits	3190	HNRNPK	ORPHA:352665
HP:0000586	Shallow orbits	3190	HNRNPK	ORPHA:453504
HP:0000586	Shallow orbits	5034	P4HB	OMIM:112240
HP:0000586	Shallow orbits	57061	HYMAI	ORPHA:96191
HP:0000586	Shallow orbits	5325	PLAGL1	ORPHA:96191
HP:0000586	Shallow orbits	84168	ANTXR1	OMIM:230740
HP:0000586	Shallow orbits	2260	FGFR1	OMIM:166250
HP:0000586	Shallow orbits	2260	FGFR1	OMIM:101600
HP:0000586	Shallow orbits	775	CACNA1C	OMIM:620029
HP:0000586	Shallow orbits	5727	PTCH1	OMIM:610828
HP:0000586	Shallow orbits	157570	ESCO2	OMIM:268300
HP:0000586	Shallow orbits	79796	ALG9	ORPHA:79328
HP:0000586	Shallow orbits	4000	LMNA	ORPHA:740
HP:0000586	Shallow orbits	10269	ZMPSTE24	ORPHA:740
HP:0000586	Shallow orbits	5422	POLA1	OMIM:301030
HP:0000586	Shallow orbits	2200	FBN1	OMIM:608328
HP:0000586	Shallow orbits	1301	COL11A1	OMIM:604841
HP:0000586	Shallow orbits	3636	INPPL1	OMIM:258480
HP:0000586	Shallow orbits	4094	MAF	ORPHA:1272
HP:0000586	Shallow orbits	221496	LEMD2	OMIM:619322
HP:0000586	Shallow orbits	2317	FLNB	OMIM:150250
HP:0000586	Shallow orbits	5159	PDGFRB	OMIM:601812
HP:0000586	Shallow orbits	10651	MTX2	OMIM:619127
HP:0000586	Shallow orbits	8985	PLOD3	OMIM:612394
HP:0000586	Shallow orbits	7291	TWIST1	OMIM:101400
HP:0000586	Shallow orbits	7291	TWIST1	OMIM:180750
HP:0000586	Shallow orbits	23729	SHPK	ORPHA:440713
HP:0000586	Shallow orbits	4286	MITF	OMIM:617306
HP:0000586	Shallow orbits	25942	SIN3A	OMIM:613406
HP:0000586	Shallow orbits	51163	DBR1	OMIM:620510
HP:0000586	Shallow orbits	26040	SETBP1	OMIM:269150
HP:0000586	Shallow orbits	26040	SETBP1	ORPHA:798
HP:0000586	Shallow orbits	871	SERPINH1	OMIM:613848
HP:0000586	Shallow orbits	81794	ADAMTS10	OMIM:277600
HP:0002707	Palate telangiectasia	94	ACVRL1	OMIM:600376
HP:0002707	Palate telangiectasia	2022	ENG	OMIM:187300
HP:0002708	Prominent median palatal raphe	79718	TBL1XR1	OMIM:602342
HP:0002708	Prominent median palatal raphe	6469	SHH	OMIM:147250
HP:0000217	Xerostomia	6335	SCN9A	OMIM:133020
HP:0000217	Xerostomia	2263	FGFR2	OMIM:149730
HP:0000217	Xerostomia	2263	FGFR2	ORPHA:2363
HP:0000217	Xerostomia	128178	EDARADD	OMIM:614941
HP:0000217	Xerostomia	8626	TP63	OMIM:604292
HP:0000217	Xerostomia	8626	TP63	ORPHA:1896
HP:0000217	Xerostomia	1131	CHRM3	OMIM:100100
HP:0000217	Xerostomia	2255	FGF10	OMIM:180920
HP:0000217	Xerostomia	2255	FGF10	OMIM:620193
HP:0000217	Xerostomia	2255	FGF10	ORPHA:2363
HP:0000217	Xerostomia	6558	SLC12A2	OMIM:619080
HP:0000217	Xerostomia	2934	GSN	ORPHA:85448
HP:0000217	Xerostomia	6492	SIM1	ORPHA:398079
HP:0000217	Xerostomia	2261	FGFR3	ORPHA:2363
HP:0000217	Xerostomia	3930	LBR	ORPHA:779
HP:0000217	Xerostomia	9071	CLDN10	OMIM:617671
HP:0000217	Xerostomia	64834	ELOVL1	OMIM:618527
HP:0000217	Xerostomia	54551	MAGEL2	ORPHA:398069
HP:0000217	Xerostomia	25978	CHMP2B	ORPHA:803
HP:0000217	Xerostomia	3178	HNRNPA1	ORPHA:803
HP:0000217	Xerostomia	8148	TAF15	ORPHA:803
HP:0000217	Xerostomia	5445	PON2	ORPHA:803
HP:0000217	Xerostomia	9217	VAPB	ORPHA:803
HP:0000217	Xerostomia	8878	SQSTM1	ORPHA:803
HP:0000217	Xerostomia	5630	PRPH	ORPHA:803
HP:0000217	Xerostomia	29110	TBK1	ORPHA:803
HP:0000217	Xerostomia	55830	GLT8D1	ORPHA:803
HP:0000217	Xerostomia	755	CFAP410	ORPHA:803
HP:0000217	Xerostomia	10891	PPARGC1A	ORPHA:803
HP:0000217	Xerostomia	6647	SOD1	ORPHA:803
HP:0000217	Xerostomia	10133	OPTN	ORPHA:803
HP:0000217	Xerostomia	1639	DCTN1	ORPHA:803
HP:0000217	Xerostomia	9896	FIG4	ORPHA:803
HP:0000217	Xerostomia	5444	PON1	ORPHA:803
HP:0000217	Xerostomia	5446	PON3	ORPHA:803
HP:0000217	Xerostomia	4744	NEFH	ORPHA:803
HP:0000217	Xerostomia	5216	PFN1	ORPHA:803
HP:0000217	Xerostomia	9782	MATR3	ORPHA:803
HP:0000217	Xerostomia	54209	TREM2	ORPHA:803
HP:0000217	Xerostomia	7415	VCP	ORPHA:803
HP:0000217	Xerostomia	283	ANG	ORPHA:803
HP:0000217	Xerostomia	23435	TARDBP	ORPHA:803
HP:0000217	Xerostomia	29978	UBQLN2	ORPHA:803
HP:0000217	Xerostomia	2733	GLE1	ORPHA:803
HP:0000217	Xerostomia	2521	FUS	ORPHA:803
HP:0000217	Xerostomia	4750	NEK1	ORPHA:803
HP:0000217	Xerostomia	6311	ATXN2	ORPHA:803
HP:0000217	Xerostomia	1610	DAO	ORPHA:803
HP:0000217	Xerostomia	2066	ERBB4	ORPHA:803
HP:0000217	Xerostomia	311	ANXA11	ORPHA:803
HP:0000217	Xerostomia	23025	UNC13A	ORPHA:803
HP:0000217	Xerostomia	899	CCNF	ORPHA:803
HP:0000217	Xerostomia	400916	CHCHD10	ORPHA:803
HP:0000217	Xerostomia	64127	NOD2	ORPHA:90340
HP:0000217	Xerostomia	64127	NOD2	OMIM:617321
HP:0000217	Xerostomia	1235	CCR6	ORPHA:220393
HP:0000217	Xerostomia	1490	CCN2	ORPHA:220393
HP:0000217	Xerostomia	3663	IRF5	ORPHA:220393
HP:0000217	Xerostomia	857	CAV1	ORPHA:220393
HP:0000217	Xerostomia	3123	HLA-DRB1	ORPHA:220393
HP:0041117	Fractured lower limb segment	25923	ATL3	OMIM:615632
HP:0003128	Lactic acidosis	4702	NDUFA8	OMIM:619272
HP:0003128	Lactic acidosis	10128	LRPPRC	OMIM:220111
HP:0003128	Lactic acidosis	10128	LRPPRC	ORPHA:70472
HP:0003128	Lactic acidosis	54539	NDUFB11	ORPHA:2609
HP:0003128	Lactic acidosis	25915	NDUFAF3	ORPHA:2609
HP:0003128	Lactic acidosis	25915	NDUFAF3	OMIM:618240
HP:0003128	Lactic acidosis	51103	NDUFAF1	ORPHA:2609
HP:0003128	Lactic acidosis	51103	NDUFAF1	OMIM:618234
HP:0003128	Lactic acidosis	91942	NDUFAF2	ORPHA:2609
HP:0003128	Lactic acidosis	51300	TIMMDC1	ORPHA:2609
HP:0003128	Lactic acidosis	4716	NDUFB10	ORPHA:2609
HP:0003128	Lactic acidosis	4716	NDUFB10	OMIM:619003
HP:0003128	Lactic acidosis	4723	NDUFV1	ORPHA:2609
HP:0003128	Lactic acidosis	55572	FOXRED1	ORPHA:2609
HP:0003128	Lactic acidosis	55572	FOXRED1	OMIM:618241
HP:0003128	Lactic acidosis	284184	NDUFAF8	ORPHA:2609
HP:0003128	Lactic acidosis	284184	NDUFAF8	OMIM:618776
HP:0003128	Lactic acidosis	55863	TMEM126B	ORPHA:2609
HP:0003128	Lactic acidosis	55863	TMEM126B	OMIM:618250
HP:0003128	Lactic acidosis	4535	MT-ND1	ORPHA:2609
HP:0003128	Lactic acidosis	4535	MT-ND1	OMIM:540000
HP:0003128	Lactic acidosis	4535	MT-ND1	ORPHA:550
HP:0003128	Lactic acidosis	4537	MT-ND3	ORPHA:2609
HP:0003128	Lactic acidosis	4729	NDUFV2	ORPHA:2609
HP:0003128	Lactic acidosis	4729	NDUFV2	OMIM:618229
HP:0003128	Lactic acidosis	4694	NDUFA1	ORPHA:2609
HP:0003128	Lactic acidosis	4720	NDUFS2	ORPHA:2609
HP:0003128	Lactic acidosis	4720	NDUFS2	OMIM:618228
HP:0003128	Lactic acidosis	4724	NDUFS4	ORPHA:2609
HP:0003128	Lactic acidosis	4724	NDUFS4	OMIM:252010
HP:0003128	Lactic acidosis	4726	NDUFS6	ORPHA:2609
HP:0003128	Lactic acidosis	4726	NDUFS6	OMIM:618232
HP:0003128	Lactic acidosis	4728	NDUFS8	ORPHA:2609
HP:0003128	Lactic acidosis	4722	NDUFS3	ORPHA:2609
HP:0003128	Lactic acidosis	4722	NDUFS3	OMIM:618230
HP:0003128	Lactic acidosis	79133	NDUFAF5	ORPHA:2609
HP:0003128	Lactic acidosis	79133	NDUFAF5	OMIM:618238
HP:0003128	Lactic acidosis	126328	NDUFA11	ORPHA:2609
HP:0003128	Lactic acidosis	126328	NDUFA11	OMIM:618236
HP:0003128	Lactic acidosis	4709	NDUFB3	ORPHA:2609
HP:0003128	Lactic acidosis	4709	NDUFB3	OMIM:618246
HP:0003128	Lactic acidosis	80224	NUBPL	ORPHA:2609
HP:0003128	Lactic acidosis	29078	NDUFAF4	ORPHA:2609
HP:0003128	Lactic acidosis	374291	NDUFS7	ORPHA:2609
HP:0003128	Lactic acidosis	4700	NDUFA6	ORPHA:2609
HP:0003128	Lactic acidosis	4700	NDUFA6	OMIM:618253
HP:0003128	Lactic acidosis	4536	MT-ND2	ORPHA:2609
HP:0003128	Lactic acidosis	4719	NDUFS1	ORPHA:2609
HP:0003128	Lactic acidosis	4719	NDUFS1	OMIM:618226
HP:0003128	Lactic acidosis	4715	NDUFB9	ORPHA:2609
HP:0003128	Lactic acidosis	26235	FBXL4	OMIM:615471
HP:0003128	Lactic acidosis	229	ALDOB	OMIM:229600
HP:0003128	Lactic acidosis	57128	LYRM4	OMIM:615595
HP:0003128	Lactic acidosis	4574	MT-TS1	OMIM:220110
HP:0003128	Lactic acidosis	4574	MT-TS1	OMIM:540000
HP:0003128	Lactic acidosis	4574	MT-TS1	ORPHA:550
HP:0003128	Lactic acidosis	4570	MT-TN	OMIM:220110
HP:0003128	Lactic acidosis	6834	SURF1	OMIM:220110
HP:0003128	Lactic acidosis	27247	NFU1	OMIM:620938
HP:0003128	Lactic acidosis	27247	NFU1	OMIM:605711
HP:0003128	Lactic acidosis	10059	DNM1L	OMIM:614388
HP:0003128	Lactic acidosis	1355	COX15	OMIM:615119
HP:0003128	Lactic acidosis	25821	MTO1	OMIM:614702
HP:0003128	Lactic acidosis	23417	MLYCD	OMIM:248360
HP:0003128	Lactic acidosis	84334	COA8	ORPHA:436271
HP:0003128	Lactic acidosis	10667	FARS2	OMIM:614946
HP:0003128	Lactic acidosis	2542	SLC37A4	OMIM:232220
HP:0003128	Lactic acidosis	2542	SLC37A4	OMIM:232240
HP:0003128	Lactic acidosis	2542	SLC37A4	ORPHA:79259
HP:0003128	Lactic acidosis	57176	VARS2	OMIM:615917
HP:0003128	Lactic acidosis	65993	MRPS34	OMIM:617664
HP:0003128	Lactic acidosis	4141	MARS1	OMIM:615486
HP:0003128	Lactic acidosis	56997	COQ8A	ORPHA:139485
HP:0003128	Lactic acidosis	56997	COQ8A	OMIM:612016
HP:0003128	Lactic acidosis	6392	SDHD	OMIM:619167
HP:0003128	Lactic acidosis	1352	COX10	OMIM:619046
HP:0003128	Lactic acidosis	387787	LIPT2	OMIM:617668
HP:0003128	Lactic acidosis	3141	HLCS	OMIM:253270
HP:0003128	Lactic acidosis	23474	ETHE1	ORPHA:51188
HP:0003128	Lactic acidosis	23474	ETHE1	OMIM:602473
HP:0003128	Lactic acidosis	5428	POLG	ORPHA:298
HP:0003128	Lactic acidosis	5428	POLG	OMIM:603041
HP:0003128	Lactic acidosis	1890	TYMP	ORPHA:298
HP:0003128	Lactic acidosis	1890	TYMP	OMIM:603041
HP:0003128	Lactic acidosis	3980	LIG3	ORPHA:298
HP:0003128	Lactic acidosis	50484	RRM2B	ORPHA:298
HP:0003128	Lactic acidosis	50484	RRM2B	OMIM:612075
HP:0003128	Lactic acidosis	1340	COX6B1	OMIM:619051
HP:0003128	Lactic acidosis	4575	MT-TS2	OMIM:540000
HP:0003128	Lactic acidosis	4575	MT-TS2	ORPHA:550
HP:0003128	Lactic acidosis	4567	MT-TL1	OMIM:540000
HP:0003128	Lactic acidosis	4567	MT-TL1	ORPHA:550
HP:0003128	Lactic acidosis	4512	MT-CO1	OMIM:540000
HP:0003128	Lactic acidosis	4512	MT-CO1	ORPHA:550
HP:0003128	Lactic acidosis	4513	MT-CO2	OMIM:540000
HP:0003128	Lactic acidosis	4513	MT-CO2	ORPHA:550
HP:0003128	Lactic acidosis	4514	MT-CO3	OMIM:540000
HP:0003128	Lactic acidosis	4514	MT-CO3	ORPHA:550
HP:0003128	Lactic acidosis	4519	MT-CYB	OMIM:540000
HP:0003128	Lactic acidosis	4519	MT-CYB	ORPHA:137675
HP:0003128	Lactic acidosis	4511	MT-TC	OMIM:540000
HP:0003128	Lactic acidosis	4572	MT-TQ	OMIM:540000
HP:0003128	Lactic acidosis	4572	MT-TQ	ORPHA:550
HP:0003128	Lactic acidosis	4577	MT-TV	OMIM:540000
HP:0003128	Lactic acidosis	4578	MT-TW	OMIM:540000
HP:0003128	Lactic acidosis	4578	MT-TW	ORPHA:550
HP:0003128	Lactic acidosis	4558	MT-TF	OMIM:540000
HP:0003128	Lactic acidosis	4558	MT-TF	ORPHA:550
HP:0003128	Lactic acidosis	4566	MT-TK	OMIM:540000
HP:0003128	Lactic acidosis	4540	MT-ND5	OMIM:540000
HP:0003128	Lactic acidosis	4540	MT-ND5	ORPHA:550
HP:0003128	Lactic acidosis	4541	MT-ND6	OMIM:540000
HP:0003128	Lactic acidosis	4541	MT-ND6	ORPHA:550
HP:0003128	Lactic acidosis	1738	DLD	ORPHA:2394
HP:0003128	Lactic acidosis	1738	DLD	OMIM:246900
HP:0003128	Lactic acidosis	55687	TRMU	OMIM:613070
HP:0003128	Lactic acidosis	1351	COX8A	OMIM:619059
HP:0003128	Lactic acidosis	4509	MT-ATP8	ORPHA:254913
HP:0003128	Lactic acidosis	514	ATP5F1E	ORPHA:254913
HP:0003128	Lactic acidosis	514	ATP5F1E	OMIM:614053
HP:0003128	Lactic acidosis	513	ATP5F1D	ORPHA:254913
HP:0003128	Lactic acidosis	513	ATP5F1D	OMIM:618120
HP:0003128	Lactic acidosis	498	ATP5F1A	ORPHA:254913
HP:0003128	Lactic acidosis	498	ATP5F1A	OMIM:620358
HP:0003128	Lactic acidosis	4508	MT-ATP6	ORPHA:254913
HP:0003128	Lactic acidosis	84833	ATP5MK	ORPHA:254913
HP:0003128	Lactic acidosis	91647	ATPAF2	ORPHA:254913
HP:0003128	Lactic acidosis	5105	PCK1	OMIM:261680
HP:0003128	Lactic acidosis	100131801	PET100	OMIM:619055
HP:0003128	Lactic acidosis	7084	TK2	OMIM:609560
HP:0003128	Lactic acidosis	2538	G6PC1	OMIM:232200
HP:0003128	Lactic acidosis	501	ALDH7A1	ORPHA:3006
HP:0003128	Lactic acidosis	11212	PLPBP	ORPHA:3006
HP:0003128	Lactic acidosis	1716	DGUOK	OMIM:251880
HP:0003128	Lactic acidosis	5095	PCCA	OMIM:606054
HP:0003128	Lactic acidosis	5096	PCCB	OMIM:606054
HP:0003128	Lactic acidosis	8802	SUCLG1	OMIM:245400
HP:0003128	Lactic acidosis	8802	SUCLG1	ORPHA:17
HP:0003128	Lactic acidosis	54968	TMEM70	OMIM:614052
HP:0003128	Lactic acidosis	23203	PMPCA	ORPHA:1170
HP:0003128	Lactic acidosis	7386	UQCRFS1	OMIM:618775
HP:0003128	Lactic acidosis	4697	NDUFA4	OMIM:619065
HP:0003128	Lactic acidosis	790955	UQCC3	OMIM:616111
HP:0003128	Lactic acidosis	388962	BOLA3	OMIM:614299
HP:0003128	Lactic acidosis	10352	WARS2	ORPHA:572798
HP:0003128	Lactic acidosis	10352	WARS2	OMIM:617710
HP:0003128	Lactic acidosis	55065	SLC52A1	OMIM:615026
HP:0003128	Lactic acidosis	84300	UQCC2	OMIM:615824
HP:0003128	Lactic acidosis	51021	MRPS16	OMIM:610498
HP:0003128	Lactic acidosis	284439	SLC25A42	OMIM:618416
HP:0003128	Lactic acidosis	84947	SERAC1	OMIM:614739
HP:0003128	Lactic acidosis	28976	ACAD9	ORPHA:99901
HP:0003128	Lactic acidosis	28976	ACAD9	OMIM:611126
HP:0003128	Lactic acidosis	5091	PC	OMIM:266150
HP:0003128	Lactic acidosis	593	BCKDHA	OMIM:248600
HP:0003128	Lactic acidosis	3028	HSD17B10	OMIM:300438
HP:0003128	Lactic acidosis	3028	HSD17B10	ORPHA:391457
HP:0003128	Lactic acidosis	3028	HSD17B10	ORPHA:391428
HP:0003128	Lactic acidosis	51660	MPC1	OMIM:614741
HP:0003128	Lactic acidosis	4576	MT-TT	OMIM:551000
HP:0003128	Lactic acidosis	90624	LYRM7	OMIM:615838
HP:0003128	Lactic acidosis	2203	FBP1	ORPHA:348
HP:0003128	Lactic acidosis	1737	DLAT	OMIM:245348
HP:0003128	Lactic acidosis	8050	PDHX	OMIM:245349
HP:0003128	Lactic acidosis	8050	PDHX	ORPHA:255182
HP:0003128	Lactic acidosis	4285	MIPEP	OMIM:617228
HP:0003128	Lactic acidosis	10165	SLC25A13	ORPHA:247598
HP:0003128	Lactic acidosis	2271	FH	OMIM:606812
HP:0003128	Lactic acidosis	125988	MICOS13	OMIM:618329
HP:0003128	Lactic acidosis	80324	PUS1	ORPHA:2598
HP:0003128	Lactic acidosis	80324	PUS1	OMIM:600462
HP:0003128	Lactic acidosis	51067	YARS2	ORPHA:2598
HP:0003128	Lactic acidosis	51067	YARS2	OMIM:613561
HP:0003128	Lactic acidosis	23479	ISCU	OMIM:255125
HP:0003128	Lactic acidosis	57505	AARS2	OMIM:614096
HP:0003128	Lactic acidosis	5256	PHKA2	ORPHA:264580
HP:0003128	Lactic acidosis	5256	PHKA2	OMIM:306000
HP:0003128	Lactic acidosis	5261	PHKG2	ORPHA:264580
HP:0003128	Lactic acidosis	5261	PHKG2	OMIM:613027
HP:0003128	Lactic acidosis	57017	COQ9	OMIM:614654
HP:0003128	Lactic acidosis	54704	PDP1	OMIM:608782
HP:0003128	Lactic acidosis	54704	PDP1	ORPHA:79246
HP:0003128	Lactic acidosis	84705	GTPBP3	ORPHA:444013
HP:0003128	Lactic acidosis	84705	GTPBP3	OMIM:616198
HP:0003128	Lactic acidosis	4538	MT-ND4	ORPHA:550
HP:0003128	Lactic acidosis	4564	MT-TH	ORPHA:550
HP:0003128	Lactic acidosis	763	CA5A	OMIM:615751
HP:0003128	Lactic acidosis	5250	SLC25A3	ORPHA:91130
HP:0003128	Lactic acidosis	5250	SLC25A3	OMIM:610773
HP:0003128	Lactic acidosis	2671	GFER	ORPHA:330054
HP:0003128	Lactic acidosis	6261	RYR1	ORPHA:466650
HP:0003128	Lactic acidosis	10102	TSFM	OMIM:610505
HP:0003128	Lactic acidosis	291	SLC25A4	ORPHA:1369
HP:0003128	Lactic acidosis	291	SLC25A4	OMIM:617184
HP:0003128	Lactic acidosis	26007	TKFC	ORPHA:1369
HP:0003128	Lactic acidosis	26007	TKFC	OMIM:618805
HP:0003128	Lactic acidosis	55750	AGK	ORPHA:1369
HP:0003128	Lactic acidosis	55750	AGK	OMIM:212350
HP:0003128	Lactic acidosis	56945	MRPS22	OMIM:611719
HP:0003128	Lactic acidosis	3712	IVD	ORPHA:33
HP:0003128	Lactic acidosis	23395	LARS2	OMIM:617021
HP:0003128	Lactic acidosis	51601	LIPT1	OMIM:616299
HP:0003128	Lactic acidosis	5160	PDHA1	OMIM:312170
HP:0003128	Lactic acidosis	5160	PDHA1	ORPHA:79243
HP:0003128	Lactic acidosis	54931	TRMT10C	OMIM:616974
HP:0003128	Lactic acidosis	137682	NDUFAF6	OMIM:618239
HP:0003128	Lactic acidosis	27235	COQ2	OMIM:607426
HP:0003128	Lactic acidosis	4705	NDUFA10	OMIM:618243
HP:0003128	Lactic acidosis	11274	USP18	OMIM:617397
HP:0003128	Lactic acidosis	388753	COA6	OMIM:616501
HP:0003128	Lactic acidosis	4358	MPV17	OMIM:256810
HP:0003128	Lactic acidosis	708	C1QBP	OMIM:617713
HP:0003128	Lactic acidosis	5257	PHKB	ORPHA:79240
HP:0003128	Lactic acidosis	9361	LONP1	ORPHA:79243
HP:0003128	Lactic acidosis	128989	TANGO2	ORPHA:480864
HP:0003128	Lactic acidosis	128989	TANGO2	OMIM:616878
HP:0003128	Lactic acidosis	112812	FDX2	OMIM:251900
HP:0003128	Lactic acidosis	63931	MRPS14	OMIM:618378
HP:0003128	Lactic acidosis	58472	SQOR	OMIM:619221
HP:0003128	Lactic acidosis	27010	TPK1	OMIM:614458
HP:0003128	Lactic acidosis	9997	SCO2	OMIM:604377
HP:0003128	Lactic acidosis	51095	TRNT1	OMIM:616084
HP:0003128	Lactic acidosis	11019	LIAS	OMIM:614462
HP:0003128	Lactic acidosis	51520	LARS1	OMIM:615438
HP:0003128	Lactic acidosis	5162	PDHB	ORPHA:255138
HP:0003128	Lactic acidosis	5162	PDHB	OMIM:614111
HP:0003128	Lactic acidosis	128240	NAXE	OMIM:617186
HP:0003128	Lactic acidosis	60528	ELAC2	OMIM:615440
HP:0003128	Lactic acidosis	55278	QRSL1	OMIM:618835
HP:0003128	Lactic acidosis	5188	GATB	OMIM:618838
HP:0003128	Lactic acidosis	57570	TRMT5	OMIM:616539
HP:0003128	Lactic acidosis	3033	HADH	ORPHA:71212
HP:0003128	Lactic acidosis	7284	TUFM	OMIM:610678
HP:0003128	Lactic acidosis	3030	HADHA	OMIM:609015
HP:0003128	Lactic acidosis	283459	GATC	OMIM:618839
HP:0003128	Lactic acidosis	617	BCS1L	OMIM:124000
HP:0003128	Lactic acidosis	617	BCS1L	ORPHA:53693
HP:0003128	Lactic acidosis	60386	SLC25A19	OMIM:607196
HP:0003128	Lactic acidosis	5495	PPM1B	ORPHA:163693
HP:0003128	Lactic acidosis	6519	SLC3A1	ORPHA:163693
HP:0003128	Lactic acidosis	9581	PREPL	ORPHA:163693
HP:0003128	Lactic acidosis	79823	CAMKMT	ORPHA:163693
HP:0003128	Lactic acidosis	51081	MRPS7	OMIM:617872
HP:0003128	Lactic acidosis	1537	CYC1	OMIM:615453
HP:0003128	Lactic acidosis	63899	NSUN3	OMIM:619012
HP:0003128	Lactic acidosis	200205	IBA57	OMIM:615330
HP:0003128	Lactic acidosis	119559	SFXN4	OMIM:615578
HP:0003128	Lactic acidosis	55005	RMND1	OMIM:614922
HP:0003128	Lactic acidosis	124454	EARS2	OMIM:614924
HP:0003128	Lactic acidosis	8803	SUCLA2	OMIM:612073
HP:0003128	Lactic acidosis	4713	NDUFB7	OMIM:620135
HP:0003128	Lactic acidosis	50640	PNPLA8	OMIM:251950
HP:0003128	Lactic acidosis	133686	NADK2	ORPHA:431361
HP:0003128	Lactic acidosis	6389	SDHA	OMIM:252011
HP:0003128	Lactic acidosis	51241	COX16	OMIM:619355
HP:0003128	Lactic acidosis	4556	MT-TE	ORPHA:254864
HP:0003128	Lactic acidosis	115286	SLC25A26	OMIM:616794
HP:0003128	Lactic acidosis	4967	OGDH	OMIM:203740
HP:0003128	Lactic acidosis	6901	TAFAZZIN	OMIM:302060
HP:0003128	Lactic acidosis	5836	PYGL	ORPHA:369
HP:0005961	Hypoargininemia	435	ASL	ORPHA:23
HP:0005961	Hypoargininemia	435	ASL	OMIM:207900
HP:0005961	Hypoargininemia	1373	CPS1	ORPHA:147
HP:0005961	Hypoargininemia	1373	CPS1	OMIM:237300
HP:0005961	Hypoargininemia	763	CA5A	OMIM:615751
HP:0005961	Hypoargininemia	5009	OTC	ORPHA:664
HP:0005961	Hypoargininemia	55163	PNPO	ORPHA:79096
HP:0005961	Hypoargininemia	445	ASS1	OMIM:215700
HP:0005961	Hypoargininemia	498	ATP5F1A	OMIM:620358
HP:0005961	Hypoargininemia	5832	ALDH18A1	OMIM:219150
HP:0001954	Recurrent fever	3561	IL2RG	ORPHA:276
HP:0001954	Recurrent fever	8518	ELP1	OMIM:223900
HP:0001954	Recurrent fever	9663	LPIN2	OMIM:609628
HP:0001954	Recurrent fever	90268	OTULIN	OMIM:617099
HP:0001954	Recurrent fever	8367	H4C5	OMIM:619950
HP:0001954	Recurrent fever	331	XIAP	OMIM:300635
HP:0001954	Recurrent fever	331	XIAP	OMIM:308240
HP:0001954	Recurrent fever	331	XIAP	ORPHA:538934
HP:0001954	Recurrent fever	85446	ZFHX2	OMIM:147430
HP:0001954	Recurrent fever	4598	MVK	OMIM:260920
HP:0001954	Recurrent fever	4598	MVK	ORPHA:343
HP:0001954	Recurrent fever	100151683	RNU4ATAC	OMIM:210710
HP:0001954	Recurrent fever	4803	NGF	OMIM:608654
HP:0001954	Recurrent fever	3190	HNRNPK	ORPHA:453504
HP:0001954	Recurrent fever	3190	HNRNPK	ORPHA:352665
HP:0001954	Recurrent fever	58484	NLRC4	OMIM:616050
HP:0001954	Recurrent fever	7317	UBA1	OMIM:301054
HP:0001954	Recurrent fever	57511	COG6	ORPHA:363523
HP:0001954	Recurrent fever	4210	MEFV	OMIM:249100
HP:0001954	Recurrent fever	4210	MEFV	OMIM:608068
HP:0001954	Recurrent fever	4210	MEFV	OMIM:134610
HP:0001954	Recurrent fever	4210	MEFV	ORPHA:117
HP:0001954	Recurrent fever	9948	WDR1	OMIM:150550
HP:0001954	Recurrent fever	22861	NLRP1	OMIM:617388
HP:0001954	Recurrent fever	6813	STXBP2	OMIM:613101
HP:0001954	Recurrent fever	81858	SHARPIN	OMIM:620795
HP:0001954	Recurrent fever	7132	TNFRSF1A	ORPHA:32960
HP:0001954	Recurrent fever	7132	TNFRSF1A	OMIM:142680
HP:0001954	Recurrent fever	868	CBLB	OMIM:620430
HP:0001954	Recurrent fever	1991	ELANE	ORPHA:2686
HP:0001954	Recurrent fever	4068	SH2D1A	OMIM:308240
HP:0001954	Recurrent fever	427	ASAH1	ORPHA:333
HP:0001954	Recurrent fever	427	ASAH1	OMIM:228000
HP:0001954	Recurrent fever	10134	BCAP31	ORPHA:369939
HP:0001954	Recurrent fever	50619	DEF6	OMIM:619573
HP:0001954	Recurrent fever	7128	TNFAIP3	OMIM:616744
HP:0001954	Recurrent fever	84876	ORAI1	OMIM:612782
HP:0001954	Recurrent fever	1777	DNASE2	OMIM:619858
HP:0001954	Recurrent fever	6573	SLC19A1	OMIM:620603
HP:0001954	Recurrent fever	10616	RBCK1	OMIM:615895
HP:0001954	Recurrent fever	6786	STIM1	OMIM:612783
HP:0001954	Recurrent fever	6773	STAT2	OMIM:618886
HP:0001954	Recurrent fever	340061	STING1	OMIM:615934
HP:0001954	Recurrent fever	1585	CYP11B2	OMIM:203400
HP:0001954	Recurrent fever	56984	PSMG2	OMIM:619183
HP:0001954	Recurrent fever	3977	LIFR	OMIM:601559
HP:0001954	Recurrent fever	3977	LIFR	ORPHA:3206
HP:0001954	Recurrent fever	254428	SLC41A1	OMIM:619468
HP:0001954	Recurrent fever	64127	NOD2	OMIM:617321
HP:0001954	Recurrent fever	4914	NTRK1	OMIM:256800
HP:0001954	Recurrent fever	4914	NTRK1	ORPHA:642
HP:0001954	Recurrent fever	9244	CRLF1	OMIM:272430
HP:0001954	Recurrent fever	91039	DPP9	OMIM:620331
HP:0001954	Recurrent fever	80216	ALPK1	OMIM:614979
HP:0001954	Recurrent fever	1589	CYP21A2	OMIM:201910
HP:0001954	Recurrent fever	970	CD70	OMIM:618261
HP:0001954	Recurrent fever	1053	CEBPE	OMIM:260570
HP:0001954	Recurrent fever	3043	HBB	ORPHA:231214
HP:0001954	Recurrent fever	3043	HBB	ORPHA:231226
HP:0001954	Recurrent fever	3702	ITK	OMIM:613011
HP:0001954	Recurrent fever	114548	NLRP3	OMIM:191900
HP:0001954	Recurrent fever	114548	NLRP3	OMIM:607115
HP:0001954	Recurrent fever	114548	NLRP3	OMIM:120100
HP:0001954	Recurrent fever	54914	FOCAD	OMIM:619991
HP:0001954	Recurrent fever	6711	SPTBN1	OMIM:619475
HP:0001954	Recurrent fever	5190	PEX6	OMIM:614863
HP:0001954	Recurrent fever	5580	PRKCD	OMIM:615559
HP:0001954	Recurrent fever	2643	GCH1	OMIM:233910
HP:0001954	Recurrent fever	718	C3	OMIM:613779
HP:0001954	Recurrent fever	6789	STK4	OMIM:614868
HP:0001954	Recurrent fever	51284	TLR7	OMIM:301080
HP:0001954	Recurrent fever	5551	PRF1	OMIM:603553
HP:0001954	Recurrent fever	8676	STX11	OMIM:603552
HP:0001954	Recurrent fever	57169	ZNFX1	OMIM:619644
HP:0001954	Recurrent fever	51816	ADA2	OMIM:615688
HP:0001954	Recurrent fever	91662	NLRP12	OMIM:611762
HP:0001954	Recurrent fever	55072	RNF31	OMIM:620632
HP:0001954	Recurrent fever	5376	PMP22	ORPHA:98916
HP:0001954	Recurrent fever	91949	COG7	ORPHA:79333
HP:0001954	Recurrent fever	55343	SLC35C1	ORPHA:99843
HP:0001954	Recurrent fever	5805	PTS	OMIM:261640
HP:0001954	Recurrent fever	55739	NAXD	OMIM:618321
HP:0001954	Recurrent fever	5966	REL	OMIM:619652
HP:0001954	Recurrent fever	64135	IFIH1	OMIM:619773
HP:0001954	Recurrent fever	5692	PSMB4	OMIM:617591
HP:0001954	Recurrent fever	200205	IBA57	OMIM:615330
HP:0001954	Recurrent fever	100	ADA	OMIM:102700
HP:0001954	Recurrent fever	8481	OFD1	OMIM:300804
HP:0001954	Recurrent fever	29110	TBK1	OMIM:620880
HP:0001954	Recurrent fever	506	ATP5F1B	OMIM:620085
HP:0001954	Recurrent fever	6850	SYK	OMIM:619381
HP:0001954	Recurrent fever	2000	ELF4	OMIM:301074
HP:0001954	Recurrent fever	5860	QDPR	OMIM:261630
HP:0001954	Recurrent fever	205327	C2orf69	OMIM:619423
HP:0001954	Recurrent fever	8737	RIPK1	OMIM:618852
HP:0001954	Recurrent fever	28985	MCTS1	OMIM:301115
HP:0001954	Recurrent fever	341208	HEPHL1	OMIM:261990
HP:0001954	Recurrent fever	2581	GALC	OMIM:245200
HP:0001954	Recurrent fever	1794	DOCK2	OMIM:616433
HP:0001954	Recurrent fever	55315	SLC29A3	ORPHA:168569
HP:0001954	Recurrent fever	6559	SLC12A3	OMIM:263800
HP:0001954	Recurrent fever	5696	PSMB8	OMIM:256040
HP:0001954	Recurrent fever	165918	RNF168	ORPHA:420741
HP:0001954	Recurrent fever	149233	IL23R	ORPHA:117
HP:0001954	Recurrent fever	6775	STAT4	ORPHA:117
HP:0001954	Recurrent fever	3586	IL10	ORPHA:117
HP:0001954	Recurrent fever	1230	CCR1	ORPHA:117
HP:0001954	Recurrent fever	355	FAS	ORPHA:117
HP:0001954	Recurrent fever	3592	IL12A	ORPHA:117
HP:0001954	Recurrent fever	101928376	IL12A-AS1	ORPHA:117
HP:0001954	Recurrent fever	3106	HLA-B	ORPHA:117
HP:0001954	Recurrent fever	7099	TLR4	ORPHA:117
HP:0001954	Recurrent fever	3459	IFNGR1	ORPHA:117
HP:0001954	Recurrent fever	720	C4A	ORPHA:117
HP:0001954	Recurrent fever	337867	UBAC2	ORPHA:117
HP:0001954	Recurrent fever	51752	ERAP1	ORPHA:117
HP:0001954	Recurrent fever	8302	KLRC4	ORPHA:117
HP:0001954	Recurrent fever	144811	LACC1	OMIM:618795
HP:0001954	Recurrent fever	51095	TRNT1	OMIM:616084
HP:0001954	Recurrent fever	5777	PTPN6	ORPHA:3243
HP:0004911	Episodic metabolic acidosis	1497	CTNS	OMIM:219800
HP:0004911	Episodic metabolic acidosis	56922	MCCC1	OMIM:210200
HP:0004911	Episodic metabolic acidosis	27247	NFU1	OMIM:605711
HP:0004911	Episodic metabolic acidosis	4594	MMUT	OMIM:251000
HP:0004911	Episodic metabolic acidosis	35	ACADS	OMIM:201470
HP:0005964	Intermittent hypothermia	93627	TBCK	OMIM:616900
HP:0005964	Intermittent hypothermia	1644	DDC	OMIM:608643
HP:0005964	Intermittent hypothermia	1621	DBH	OMIM:223360
HP:0005978	Type II diabetes mellitus	6927	HNF1A	OMIM:600496
HP:0005978	Type II diabetes mellitus	6927	HNF1A	OMIM:125853
HP:0005978	Type II diabetes mellitus	7840	ALMS1	ORPHA:64
HP:0005978	Type II diabetes mellitus	92482	BBIP1	ORPHA:110
HP:0005978	Type II diabetes mellitus	80184	CEP290	ORPHA:110
HP:0005978	Type II diabetes mellitus	11020	IFT27	ORPHA:110
HP:0005978	Type II diabetes mellitus	582	BBS1	ORPHA:110
HP:0005978	Type II diabetes mellitus	49855	SCAPER	ORPHA:110
HP:0005978	Type II diabetes mellitus	4867	NPHP1	ORPHA:110
HP:0005978	Type II diabetes mellitus	51057	WDPCP	ORPHA:110
HP:0005978	Type II diabetes mellitus	132320	SCLT1	ORPHA:110
HP:0005978	Type II diabetes mellitus	27241	BBS9	ORPHA:110
HP:0005978	Type II diabetes mellitus	84984	CEP19	ORPHA:110
HP:0005978	Type II diabetes mellitus	84984	CEP19	OMIM:615703
HP:0005978	Type II diabetes mellitus	22954	TRIM32	ORPHA:110
HP:0005978	Type II diabetes mellitus	54903	MKS1	ORPHA:110
HP:0005978	Type II diabetes mellitus	79738	BBS10	ORPHA:110
HP:0005978	Type II diabetes mellitus	123016	TTC8	ORPHA:110
HP:0005978	Type II diabetes mellitus	26160	IFT172	ORPHA:110
HP:0005978	Type II diabetes mellitus	583	BBS2	ORPHA:110
HP:0005978	Type II diabetes mellitus	585	BBS4	ORPHA:110
HP:0005978	Type II diabetes mellitus	8195	MKKS	ORPHA:110
HP:0005978	Type II diabetes mellitus	54585	LZTFL1	ORPHA:110
HP:0005978	Type II diabetes mellitus	55212	BBS7	ORPHA:110
HP:0005978	Type II diabetes mellitus	166379	BBS12	ORPHA:110
HP:0005978	Type II diabetes mellitus	10806	SDCCAG8	ORPHA:110
HP:0005978	Type II diabetes mellitus	157657	CFAP418	ORPHA:110
HP:0005978	Type II diabetes mellitus	84100	ARL6	ORPHA:110
HP:0005978	Type II diabetes mellitus	129880	BBS5	ORPHA:110
HP:0005978	Type II diabetes mellitus	80173	IFT74	ORPHA:110
HP:0005978	Type II diabetes mellitus	4558	MT-TF	ORPHA:550
HP:0005978	Type II diabetes mellitus	4572	MT-TQ	ORPHA:550
HP:0005978	Type II diabetes mellitus	4512	MT-CO1	ORPHA:550
HP:0005978	Type II diabetes mellitus	4513	MT-CO2	ORPHA:550
HP:0005978	Type II diabetes mellitus	4514	MT-CO3	ORPHA:550
HP:0005978	Type II diabetes mellitus	4578	MT-TW	ORPHA:550
HP:0005978	Type II diabetes mellitus	4540	MT-ND5	ORPHA:550
HP:0005978	Type II diabetes mellitus	4541	MT-ND6	ORPHA:550
HP:0005978	Type II diabetes mellitus	4535	MT-ND1	ORPHA:550
HP:0005978	Type II diabetes mellitus	4538	MT-ND4	ORPHA:550
HP:0005978	Type II diabetes mellitus	4567	MT-TL1	ORPHA:550
HP:0005978	Type II diabetes mellitus	4574	MT-TS1	ORPHA:550
HP:0005978	Type II diabetes mellitus	4575	MT-TS2	ORPHA:550
HP:0005978	Type II diabetes mellitus	4564	MT-TH	ORPHA:550
HP:0005978	Type II diabetes mellitus	63036	CELA2A	OMIM:618620
HP:0005978	Type II diabetes mellitus	23312	DMXL2	ORPHA:453533
HP:0005978	Type II diabetes mellitus	26580	BSCL2	OMIM:269700
HP:0005978	Type II diabetes mellitus	4160	MC4R	ORPHA:71529
HP:0005978	Type II diabetes mellitus	3651	PDX1	OMIM:606392
HP:0005978	Type II diabetes mellitus	3651	PDX1	OMIM:125853
HP:0005978	Type II diabetes mellitus	389692	MAFA	OMIM:147630
HP:0005978	Type II diabetes mellitus	10908	PNPLA6	ORPHA:2377
HP:0005978	Type II diabetes mellitus	6804	STX1A	ORPHA:904
HP:0005978	Type II diabetes mellitus	7461	CLIP2	ORPHA:904
HP:0005978	Type II diabetes mellitus	84277	DNAJC30	ORPHA:904
HP:0005978	Type II diabetes mellitus	8468	FKBP6	ORPHA:904
HP:0005978	Type II diabetes mellitus	5982	RFC2	ORPHA:904
HP:0005978	Type II diabetes mellitus	2969	GTF2I	ORPHA:904
HP:0005978	Type II diabetes mellitus	3984	LIMK1	ORPHA:904
HP:0005978	Type II diabetes mellitus	9569	GTF2IRD1	ORPHA:904
HP:0005978	Type II diabetes mellitus	155382	VPS37D	ORPHA:904
HP:0005978	Type II diabetes mellitus	155368	METTL27	ORPHA:904
HP:0005978	Type II diabetes mellitus	114049	BUD23	ORPHA:904
HP:0005978	Type II diabetes mellitus	7458	EIF4H	ORPHA:904
HP:0005978	Type II diabetes mellitus	84163	GTF2IRD2	ORPHA:904
HP:0005978	Type II diabetes mellitus	26608	TBL2	ORPHA:904
HP:0005978	Type II diabetes mellitus	653361	NCF1	ORPHA:904
HP:0005978	Type II diabetes mellitus	135886	TMEM270	ORPHA:904
HP:0005978	Type II diabetes mellitus	9031	BAZ1B	ORPHA:904
HP:0005978	Type II diabetes mellitus	2006	ELN	ORPHA:904
HP:0005978	Type II diabetes mellitus	3643	INSR	ORPHA:2297
HP:0005978	Type II diabetes mellitus	7068	THRB	OMIM:274300
HP:0005978	Type II diabetes mellitus	7518	XRCC4	ORPHA:99812
HP:0005978	Type II diabetes mellitus	3981	LIG4	ORPHA:99812
HP:0005978	Type II diabetes mellitus	3981	LIG4	OMIM:606593
HP:0005978	Type II diabetes mellitus	7486	WRN	ORPHA:902
HP:0005978	Type II diabetes mellitus	100033413	SNORD116-1	OMIM:176270
HP:0005978	Type II diabetes mellitus	8924	HERC2	OMIM:176270
HP:0005978	Type II diabetes mellitus	23742	NPAP1	OMIM:176270
HP:0005978	Type II diabetes mellitus	338433	SNORD115-1	OMIM:176270
HP:0005978	Type II diabetes mellitus	54551	MAGEL2	OMIM:176270
HP:0005978	Type II diabetes mellitus	54551	MAGEL2	ORPHA:398069
HP:0005978	Type II diabetes mellitus	7681	MKRN3	OMIM:176270
HP:0005978	Type II diabetes mellitus	145624	PWAR1	OMIM:176270
HP:0005978	Type II diabetes mellitus	3653	IPW	OMIM:176270
HP:0005978	Type II diabetes mellitus	791114	PWRN1	OMIM:176270
HP:0005978	Type II diabetes mellitus	4040	LRP6	OMIM:610947
HP:0005978	Type II diabetes mellitus	8462	KLF11	OMIM:610508
HP:0005978	Type II diabetes mellitus	472	ATM	ORPHA:100
HP:0005978	Type II diabetes mellitus	7555	CNBP	OMIM:602668
HP:0005978	Type II diabetes mellitus	7555	CNBP	ORPHA:606
HP:0005978	Type II diabetes mellitus	5468	PPARG	OMIM:604367
HP:0005978	Type II diabetes mellitus	5468	PPARG	OMIM:125853
HP:0005978	Type II diabetes mellitus	6934	TCF7L2	OMIM:125853
HP:0005978	Type II diabetes mellitus	5078	PAX4	OMIM:125853
HP:0005978	Type II diabetes mellitus	3172	HNF4A	OMIM:125853
HP:0005978	Type II diabetes mellitus	3569	IL6	OMIM:125853
HP:0005978	Type II diabetes mellitus	3990	LIPC	OMIM:125853
HP:0005978	Type II diabetes mellitus	4760	NEUROD1	OMIM:125853
HP:0005978	Type II diabetes mellitus	5506	PPP1R3A	OMIM:125853
HP:0005978	Type II diabetes mellitus	169026	SLC30A8	OMIM:125853
HP:0005978	Type II diabetes mellitus	2820	GPD2	OMIM:125853
HP:0005978	Type II diabetes mellitus	6928	HNF1B	OMIM:125853
HP:0005978	Type II diabetes mellitus	6514	SLC2A2	OMIM:125853
HP:0005978	Type II diabetes mellitus	5167	ENPP1	OMIM:125853
HP:0005978	Type II diabetes mellitus	5770	PTPN1	OMIM:125853
HP:0005978	Type II diabetes mellitus	8660	IRS2	OMIM:125853
HP:0005978	Type II diabetes mellitus	3159	HMGA1	OMIM:125853
HP:0005978	Type II diabetes mellitus	6833	ABCC8	OMIM:125853
HP:0005978	Type II diabetes mellitus	6833	ABCC8	OMIM:610374
HP:0005978	Type II diabetes mellitus	3667	IRS1	OMIM:125853
HP:0005978	Type II diabetes mellitus	9479	MAPK8IP1	OMIM:125853
HP:0005978	Type II diabetes mellitus	208	AKT2	OMIM:125853
HP:0005978	Type II diabetes mellitus	4544	MTNR1B	OMIM:125853
HP:0005978	Type II diabetes mellitus	56729	RETN	OMIM:125853
HP:0005978	Type II diabetes mellitus	7466	WFS1	OMIM:125853
HP:0005978	Type II diabetes mellitus	7466	WFS1	OMIM:614296
HP:0005978	Type II diabetes mellitus	2645	GCK	OMIM:125853
HP:0005978	Type II diabetes mellitus	2645	GCK	ORPHA:79299
HP:0005978	Type II diabetes mellitus	10644	IGF2BP2	OMIM:125853
HP:0005978	Type II diabetes mellitus	641	BLM	OMIM:210900
HP:0005978	Type II diabetes mellitus	6492	SIM1	ORPHA:398079
HP:0005978	Type II diabetes mellitus	1363	CPE	OMIM:619326
HP:0005978	Type II diabetes mellitus	23600	AMACR	ORPHA:79095
HP:0005978	Type II diabetes mellitus	5422	POLA1	ORPHA:163976
HP:0005978	Type II diabetes mellitus	4221	MEN1	ORPHA:99725
HP:0005978	Type II diabetes mellitus	9049	AIP	ORPHA:99725
HP:0005978	Type II diabetes mellitus	9049	AIP	ORPHA:963
HP:0005978	Type II diabetes mellitus	1786	DNMT1	OMIM:604121
HP:0005978	Type II diabetes mellitus	11128	POLR3A	ORPHA:3455
HP:0005978	Type II diabetes mellitus	2642	GCGR	OMIM:619290
HP:0005978	Type II diabetes mellitus	51218	GLRX5	OMIM:616860
HP:0005978	Type II diabetes mellitus	2200	FBN1	ORPHA:2833
HP:0005978	Type II diabetes mellitus	10273	STUB1	ORPHA:412057
HP:0005978	Type II diabetes mellitus	4358	MPV17	OMIM:256810
HP:0005978	Type II diabetes mellitus	9149	DYRK1B	OMIM:615812
HP:0005978	Type II diabetes mellitus	847	CAT	ORPHA:926
HP:0005978	Type II diabetes mellitus	83550	GPR101	ORPHA:963
HP:0005978	Type II diabetes mellitus	654	BMP6	OMIM:620121
HP:0005978	Type II diabetes mellitus	5130	PCYT1A	OMIM:620680
HP:0005978	Type II diabetes mellitus	367	AR	ORPHA:481
HP:0005978	Type II diabetes mellitus	4340	MOG	OMIM:614250
HP:0005978	Type II diabetes mellitus	4000	LMNA	OMIM:151660
HP:0005978	Type II diabetes mellitus	4000	LMNA	ORPHA:79474
HP:0005978	Type II diabetes mellitus	833	CARS1	OMIM:618891
HP:0005978	Type II diabetes mellitus	64788	LMF1	OMIM:246650
HP:0005978	Type II diabetes mellitus	5333	PLCD1	ORPHA:2387
HP:0005978	Type II diabetes mellitus	5116	PCNT	OMIM:210720
HP:0005978	Type II diabetes mellitus	25942	SIN3A	OMIM:613406
HP:0005978	Type II diabetes mellitus	7873	MANF	OMIM:620651
HP:0005978	Type II diabetes mellitus	1188	CLCNKB	ORPHA:358
HP:0005978	Type II diabetes mellitus	6559	SLC12A3	ORPHA:358
HP:0005978	Type II diabetes mellitus	5192	PEX10	ORPHA:247815
HP:0005978	Type II diabetes mellitus	1588	CYP19A1	ORPHA:91
HP:0005978	Type II diabetes mellitus	1499	CTNNB1	ORPHA:54595
HP:0005978	Type II diabetes mellitus	673	BRAF	ORPHA:54595
HP:0005978	Type II diabetes mellitus	11330	CTRC	ORPHA:103918
HP:0005978	Type II diabetes mellitus	6690	SPINK1	ORPHA:103918
HP:0005978	Type II diabetes mellitus	6690	SPINK1	OMIM:608189
HP:0005967	Mixed respiratory and metabolic acidosis	6261	RYR1	OMIM:145600
HP:0005968	Temperature instability	283446	MYO1H	OMIM:619482
HP:0005968	Temperature instability	2215	FCGR3B	ORPHA:464370
HP:0005968	Temperature instability	440138	ALG11	ORPHA:280071
HP:0005968	Temperature instability	440138	ALG11	OMIM:613661
HP:0005968	Temperature instability	6571	SLC18A2	OMIM:618049
HP:0005968	Temperature instability	55823	VPS11	OMIM:616683
HP:0005968	Temperature instability	2260	FGFR1	ORPHA:220386
HP:0005968	Temperature instability	2260	FGFR1	ORPHA:93924
HP:0005968	Temperature instability	28514	DLL1	ORPHA:220386
HP:0005968	Temperature instability	28514	DLL1	ORPHA:93926
HP:0005968	Temperature instability	28514	DLL1	ORPHA:93924
HP:0005968	Temperature instability	28514	DLL1	ORPHA:93925
HP:0005968	Temperature instability	10735	STAG2	ORPHA:220386
HP:0005968	Temperature instability	10735	STAG2	ORPHA:93925
HP:0005968	Temperature instability	2253	FGF8	ORPHA:220386
HP:0005968	Temperature instability	2253	FGF8	ORPHA:93926
HP:0005968	Temperature instability	2253	FGF8	ORPHA:93924
HP:0005968	Temperature instability	2253	FGF8	ORPHA:93925
HP:0005968	Temperature instability	8243	SMC1A	ORPHA:220386
HP:0005968	Temperature instability	6496	SIX3	ORPHA:220386
HP:0005968	Temperature instability	6496	SIX3	ORPHA:93926
HP:0005968	Temperature instability	6496	SIX3	ORPHA:93924
HP:0005968	Temperature instability	6496	SIX3	ORPHA:93925
HP:0005968	Temperature instability	7050	TGIF1	ORPHA:220386
HP:0005968	Temperature instability	7050	TGIF1	ORPHA:93926
HP:0005968	Temperature instability	7050	TGIF1	ORPHA:93924
HP:0005968	Temperature instability	7050	TGIF1	ORPHA:93925
HP:0005968	Temperature instability	4838	NODAL	ORPHA:220386
HP:0005968	Temperature instability	4838	NODAL	ORPHA:93926
HP:0005968	Temperature instability	4838	NODAL	ORPHA:93924
HP:0005968	Temperature instability	4838	NODAL	ORPHA:93925
HP:0005968	Temperature instability	6469	SHH	ORPHA:220386
HP:0005968	Temperature instability	6469	SHH	ORPHA:93926
HP:0005968	Temperature instability	6469	SHH	ORPHA:93924
HP:0005968	Temperature instability	6469	SHH	ORPHA:93925
HP:0005968	Temperature instability	7546	ZIC2	ORPHA:220386
HP:0005968	Temperature instability	7546	ZIC2	ORPHA:93926
HP:0005968	Temperature instability	7546	ZIC2	ORPHA:93924
HP:0005968	Temperature instability	7546	ZIC2	ORPHA:93925
HP:0005968	Temperature instability	6491	STIL	ORPHA:220386
HP:0005968	Temperature instability	6491	STIL	ORPHA:93926
HP:0005968	Temperature instability	6491	STIL	ORPHA:93924
HP:0005968	Temperature instability	6491	STIL	ORPHA:93925
HP:0005968	Temperature instability	2619	GAS1	ORPHA:220386
HP:0005968	Temperature instability	2619	GAS1	ORPHA:93926
HP:0005968	Temperature instability	2619	GAS1	ORPHA:93924
HP:0005968	Temperature instability	2619	GAS1	ORPHA:93925
HP:0005968	Temperature instability	84976	DISP1	ORPHA:220386
HP:0005968	Temperature instability	84976	DISP1	ORPHA:93926
HP:0005968	Temperature instability	84976	DISP1	ORPHA:93924
HP:0005968	Temperature instability	84976	DISP1	ORPHA:93925
HP:0005968	Temperature instability	2736	GLI2	ORPHA:220386
HP:0005968	Temperature instability	2736	GLI2	ORPHA:93926
HP:0005968	Temperature instability	2736	GLI2	ORPHA:93924
HP:0005968	Temperature instability	2736	GLI2	ORPHA:93925
HP:0005968	Temperature instability	8928	FOXH1	ORPHA:220386
HP:0005968	Temperature instability	8928	FOXH1	ORPHA:93926
HP:0005968	Temperature instability	8928	FOXH1	ORPHA:93924
HP:0005968	Temperature instability	8928	FOXH1	ORPHA:93925
HP:0005968	Temperature instability	6997	CRIPTO	ORPHA:220386
HP:0005968	Temperature instability	6997	CRIPTO	ORPHA:93926
HP:0005968	Temperature instability	6997	CRIPTO	ORPHA:93924
HP:0005968	Temperature instability	6997	CRIPTO	ORPHA:93925
HP:0005968	Temperature instability	5727	PTCH1	ORPHA:220386
HP:0005968	Temperature instability	5727	PTCH1	ORPHA:93926
HP:0005968	Temperature instability	5727	PTCH1	ORPHA:93924
HP:0005968	Temperature instability	5727	PTCH1	ORPHA:93925
HP:0005968	Temperature instability	50937	CDON	ORPHA:220386
HP:0005968	Temperature instability	50937	CDON	ORPHA:93926
HP:0005968	Temperature instability	50937	CDON	ORPHA:93924
HP:0005968	Temperature instability	50937	CDON	ORPHA:93925
HP:0005968	Temperature instability	1317	SLC31A1	OMIM:620306
HP:0005968	Temperature instability	54551	MAGEL2	ORPHA:398069
HP:0005968	Temperature instability	54551	MAGEL2	OMIM:176270
HP:0005968	Temperature instability	55164	SHQ1	OMIM:619922
HP:0005968	Temperature instability	23007	PLCH1	ORPHA:93925
HP:0005968	Temperature instability	1644	DDC	OMIM:608643
HP:0005968	Temperature instability	2581	GALC	ORPHA:206436
HP:0005968	Temperature instability	5660	PSAP	ORPHA:206436
HP:0005968	Temperature instability	8398	PLA2G6	ORPHA:35069
HP:0005968	Temperature instability	4001	LMNB1	ORPHA:99027
HP:0005968	Temperature instability	60386	SLC25A19	ORPHA:99742
HP:0005968	Temperature instability	100033413	SNORD116-1	OMIM:176270
HP:0005968	Temperature instability	8924	HERC2	OMIM:176270
HP:0005968	Temperature instability	23742	NPAP1	OMIM:176270
HP:0005968	Temperature instability	338433	SNORD115-1	OMIM:176270
HP:0005968	Temperature instability	7681	MKRN3	OMIM:176270
HP:0005968	Temperature instability	145624	PWAR1	OMIM:176270
HP:0005968	Temperature instability	3653	IPW	OMIM:176270
HP:0005968	Temperature instability	791114	PWRN1	OMIM:176270
HP:0005968	Temperature instability	6697	SPR	ORPHA:70594
HP:0001985	Hypoketotic hypoglycemia	37	ACADVL	ORPHA:26793
HP:0001985	Hypoketotic hypoglycemia	3767	KCNJ11	ORPHA:276580
HP:0001985	Hypoketotic hypoglycemia	3030	HADHA	ORPHA:5
HP:0001985	Hypoketotic hypoglycemia	3030	HADHA	ORPHA:746
HP:0001985	Hypoketotic hypoglycemia	3030	HADHA	OMIM:609015
HP:0001985	Hypoketotic hypoglycemia	3172	HNF4A	ORPHA:263455
HP:0001985	Hypoketotic hypoglycemia	6927	HNF1A	ORPHA:324575
HP:0001985	Hypoketotic hypoglycemia	1376	CPT2	OMIM:600649
HP:0001985	Hypoketotic hypoglycemia	1376	CPT2	ORPHA:228305
HP:0001985	Hypoketotic hypoglycemia	1376	CPT2	ORPHA:228308
HP:0001985	Hypoketotic hypoglycemia	3033	HADH	OMIM:231530
HP:0001985	Hypoketotic hypoglycemia	3033	HADH	ORPHA:71212
HP:0001985	Hypoketotic hypoglycemia	1374	CPT1A	OMIM:255120
HP:0001985	Hypoketotic hypoglycemia	7351	UCP2	ORPHA:276556
HP:0001985	Hypoketotic hypoglycemia	208	AKT2	ORPHA:293964
HP:0001985	Hypoketotic hypoglycemia	3032	HADHB	ORPHA:746
HP:0001985	Hypoketotic hypoglycemia	2645	GCK	ORPHA:79299
HP:0001985	Hypoketotic hypoglycemia	6833	ABCC8	ORPHA:276575
HP:0001985	Hypoketotic hypoglycemia	22845	DOLK	OMIM:610768
HP:0001985	Hypoketotic hypoglycemia	788	SLC25A20	ORPHA:159
HP:0002710	Commissural lip pit	54101	RIPK4	ORPHA:1401
HP:0002710	Commissural lip pit	54101	RIPK4	OMIM:214350
HP:0002710	Commissural lip pit	6495	SIX1	OMIM:608389
HP:0002711	Exaggerated median tongue furrow	3190	HNRNPK	ORPHA:453504
HP:0002711	Exaggerated median tongue furrow	3190	HNRNPK	ORPHA:352665
HP:0002711	Exaggerated median tongue furrow	6660	SOX5	ORPHA:313892
HP:0002711	Exaggerated median tongue furrow	2719	GPC3	OMIM:312870
HP:0002711	Exaggerated median tongue furrow	2239	GPC4	OMIM:312870
HP:0002711	Exaggerated median tongue furrow	6197	RPS6KA3	ORPHA:192
HP:0000232	Everted lower lip vermilion	3480	IGF1R	ORPHA:73273
HP:0000232	Everted lower lip vermilion	7051	TGM1	OMIM:242300
HP:0000232	Everted lower lip vermilion	7051	TGM1	ORPHA:313
HP:0000232	Everted lower lip vermilion	26235	FBXL4	OMIM:615471
HP:0000232	Everted lower lip vermilion	30000	TNPO2	OMIM:619556
HP:0000232	Everted lower lip vermilion	54517	PUS7	OMIM:618342
HP:0000232	Everted lower lip vermilion	23241	PACS2	OMIM:618067
HP:0000232	Everted lower lip vermilion	26128	KIFBP	OMIM:609460
HP:0000232	Everted lower lip vermilion	128178	EDARADD	OMIM:614940
HP:0000232	Everted lower lip vermilion	128178	EDARADD	OMIM:614941
HP:0000232	Everted lower lip vermilion	128178	EDARADD	OMIM:224900
HP:0000232	Everted lower lip vermilion	4204	MECP2	ORPHA:1762
HP:0000232	Everted lower lip vermilion	23394	ADNP	OMIM:615873
HP:0000232	Everted lower lip vermilion	9820	CUL7	ORPHA:2616
HP:0000232	Everted lower lip vermilion	23363	OBSL1	ORPHA:2616
HP:0000232	Everted lower lip vermilion	83987	CCDC8	ORPHA:2616
HP:0000232	Everted lower lip vermilion	57539	WDR35	OMIM:613610
HP:0000232	Everted lower lip vermilion	57539	WDR35	ORPHA:1515
HP:0000232	Everted lower lip vermilion	81857	MED25	OMIM:616449
HP:0000232	Everted lower lip vermilion	81857	MED25	ORPHA:464738
HP:0000232	Everted lower lip vermilion	55624	POMGNT1	OMIM:253280
HP:0000232	Everted lower lip vermilion	55777	MBD5	ORPHA:228402
HP:0000232	Everted lower lip vermilion	55777	MBD5	OMIM:156200
HP:0000232	Everted lower lip vermilion	79813	EHMT1	ORPHA:96147
HP:0000232	Everted lower lip vermilion	79813	EHMT1	OMIM:610253
HP:0000232	Everted lower lip vermilion	84320	ACBD6	OMIM:620785
HP:0000232	Everted lower lip vermilion	2629	GBA1	OMIM:608013
HP:0000232	Everted lower lip vermilion	51099	ABHD5	OMIM:275630
HP:0000232	Everted lower lip vermilion	5308	PITX2	ORPHA:782
HP:0000232	Everted lower lip vermilion	2296	FOXC1	ORPHA:782
HP:0000232	Everted lower lip vermilion	57465	TBC1D24	OMIM:220500
HP:0000232	Everted lower lip vermilion	116931	MED12L	OMIM:618872
HP:0000232	Everted lower lip vermilion	91179	SCARF2	OMIM:600920
HP:0000232	Everted lower lip vermilion	3020	H3-3A	OMIM:619720
HP:0000232	Everted lower lip vermilion	80816	ASXL3	OMIM:615485
HP:0000232	Everted lower lip vermilion	80816	ASXL3	ORPHA:352577
HP:0000232	Everted lower lip vermilion	283489	CHAMP1	OMIM:616579
HP:0000232	Everted lower lip vermilion	23384	SPECC1L	ORPHA:1519
HP:0000232	Everted lower lip vermilion	112752	IFT43	ORPHA:1515
HP:0000232	Everted lower lip vermilion	112752	IFT43	OMIM:614099
HP:0000232	Everted lower lip vermilion	51098	IFT52	ORPHA:1515
HP:0000232	Everted lower lip vermilion	55764	IFT122	ORPHA:1515
HP:0000232	Everted lower lip vermilion	55764	IFT122	OMIM:218330
HP:0000232	Everted lower lip vermilion	57728	WDR19	ORPHA:1515
HP:0000232	Everted lower lip vermilion	4952	OCRL	ORPHA:534
HP:0000232	Everted lower lip vermilion	29957	SLC25A24	ORPHA:2963
HP:0000232	Everted lower lip vermilion	29957	SLC25A24	OMIM:612289
HP:0000232	Everted lower lip vermilion	6197	RPS6KA3	OMIM:303600
HP:0000232	Everted lower lip vermilion	6197	RPS6KA3	ORPHA:276630
HP:0000232	Everted lower lip vermilion	6197	RPS6KA3	ORPHA:192
HP:0000232	Everted lower lip vermilion	6197	RPS6KA3	OMIM:300844
HP:0000232	Everted lower lip vermilion	5980	REV3L	ORPHA:570
HP:0000232	Everted lower lip vermilion	23129	PLXND1	ORPHA:570
HP:0000232	Everted lower lip vermilion	1896	EDA	OMIM:305100
HP:0000232	Everted lower lip vermilion	1896	EDA	ORPHA:181
HP:0000232	Everted lower lip vermilion	284058	KANSL1	ORPHA:363958
HP:0000232	Everted lower lip vermilion	284058	KANSL1	ORPHA:363965
HP:0000232	Everted lower lip vermilion	284058	KANSL1	OMIM:610443
HP:0000232	Everted lower lip vermilion	10265	IRX5	OMIM:611174
HP:0000232	Everted lower lip vermilion	80204	FBXO11	OMIM:618089
HP:0000232	Everted lower lip vermilion	7021	TFAP2B	ORPHA:46627
HP:0000232	Everted lower lip vermilion	2068	ERCC2	ORPHA:1466
HP:0000232	Everted lower lip vermilion	2067	ERCC1	ORPHA:1466
HP:0000232	Everted lower lip vermilion	2074	ERCC6	ORPHA:1466
HP:0000232	Everted lower lip vermilion	2073	ERCC5	ORPHA:1466
HP:0000232	Everted lower lip vermilion	1009	CDH11	OMIM:619736
HP:0000232	Everted lower lip vermilion	546	ATRX	ORPHA:847
HP:0000232	Everted lower lip vermilion	6792	CDKL5	ORPHA:505652
HP:0000232	Everted lower lip vermilion	23258	DENND5A	OMIM:617281
HP:0000232	Everted lower lip vermilion	9509	ADAMTS2	OMIM:225410
HP:0000232	Everted lower lip vermilion	1193	CLIC2	ORPHA:324410
HP:0000232	Everted lower lip vermilion	4613	MYCN	OMIM:164280
HP:0000232	Everted lower lip vermilion	7020	TFAP2A	ORPHA:1297
HP:0000232	Everted lower lip vermilion	6638	SNRPN	ORPHA:177907
HP:0000232	Everted lower lip vermilion	26834	RNU4-2	OMIM:620851
HP:0000232	Everted lower lip vermilion	4247	MGAT2	OMIM:212066
HP:0000232	Everted lower lip vermilion	6874	TAF4	OMIM:620450
HP:0000232	Everted lower lip vermilion	151516	ASPRV1	ORPHA:313
HP:0000232	Everted lower lip vermilion	242	ALOX12B	ORPHA:313
HP:0000232	Everted lower lip vermilion	242	ALOX12B	OMIM:242100
HP:0000232	Everted lower lip vermilion	126410	CYP4F22	ORPHA:313
HP:0000232	Everted lower lip vermilion	6820	SULT2B1	ORPHA:313
HP:0000232	Everted lower lip vermilion	26154	ABCA12	ORPHA:313
HP:0000232	Everted lower lip vermilion	26154	ABCA12	OMIM:242500
HP:0000232	Everted lower lip vermilion	643418	LIPN	ORPHA:313
HP:0000232	Everted lower lip vermilion	59344	ALOXE3	ORPHA:313
HP:0000232	Everted lower lip vermilion	59344	ALOXE3	OMIM:242100
HP:0000232	Everted lower lip vermilion	348938	NIPAL4	ORPHA:313
HP:0000232	Everted lower lip vermilion	121214	SDR9C7	ORPHA:313
HP:0000232	Everted lower lip vermilion	79718	TBL1XR1	ORPHA:487825
HP:0000232	Everted lower lip vermilion	79718	TBL1XR1	OMIM:602342
HP:0000232	Everted lower lip vermilion	57167	SALL4	ORPHA:233
HP:0000232	Everted lower lip vermilion	9935	MAFB	ORPHA:233
HP:0000232	Everted lower lip vermilion	1123	CHN1	ORPHA:233
HP:0000232	Everted lower lip vermilion	6611	SMS	ORPHA:3063
HP:0000232	Everted lower lip vermilion	2290	FOXG1	ORPHA:261144
HP:0000232	Everted lower lip vermilion	23126	POGZ	OMIM:616364
HP:0000232	Everted lower lip vermilion	10847	SRCAP	OMIM:619595
HP:0000232	Everted lower lip vermilion	56006	SMG9	OMIM:616920
HP:0000232	Everted lower lip vermilion	1909	EDNRA	OMIM:616367
HP:0000232	Everted lower lip vermilion	6804	STX1A	ORPHA:904
HP:0000232	Everted lower lip vermilion	7461	CLIP2	ORPHA:904
HP:0000232	Everted lower lip vermilion	84277	DNAJC30	ORPHA:904
HP:0000232	Everted lower lip vermilion	8468	FKBP6	ORPHA:904
HP:0000232	Everted lower lip vermilion	5982	RFC2	ORPHA:904
HP:0000232	Everted lower lip vermilion	2969	GTF2I	ORPHA:904
HP:0000232	Everted lower lip vermilion	3984	LIMK1	ORPHA:904
HP:0000232	Everted lower lip vermilion	9569	GTF2IRD1	ORPHA:904
HP:0000232	Everted lower lip vermilion	155382	VPS37D	ORPHA:904
HP:0000232	Everted lower lip vermilion	155368	METTL27	ORPHA:904
HP:0000232	Everted lower lip vermilion	114049	BUD23	ORPHA:904
HP:0000232	Everted lower lip vermilion	7458	EIF4H	ORPHA:904
HP:0000232	Everted lower lip vermilion	84163	GTF2IRD2	ORPHA:904
HP:0000232	Everted lower lip vermilion	26608	TBL2	ORPHA:904
HP:0000232	Everted lower lip vermilion	653361	NCF1	ORPHA:904
HP:0000232	Everted lower lip vermilion	135886	TMEM270	ORPHA:904
HP:0000232	Everted lower lip vermilion	9031	BAZ1B	ORPHA:904
HP:0000232	Everted lower lip vermilion	2006	ELN	ORPHA:904
HP:0000232	Everted lower lip vermilion	85440	DOCK7	ORPHA:411986
HP:0000232	Everted lower lip vermilion	85440	DOCK7	OMIM:615859
HP:0000232	Everted lower lip vermilion	3425	IDUA	ORPHA:93474
HP:0000232	Everted lower lip vermilion	3425	IDUA	ORPHA:93473
HP:0000232	Everted lower lip vermilion	6134	RPL10	ORPHA:459070
HP:0000232	Everted lower lip vermilion	10913	EDAR	OMIM:224900
HP:0000232	Everted lower lip vermilion	6595	SMARCA2	ORPHA:3051
HP:0000232	Everted lower lip vermilion	6595	SMARCA2	OMIM:601358
HP:0000232	Everted lower lip vermilion	4893	NRAS	OMIM:137550
HP:0000232	Everted lower lip vermilion	3265	HRAS	OMIM:137550
HP:0000232	Everted lower lip vermilion	60401	EDA2R	ORPHA:181
HP:0000232	Everted lower lip vermilion	54828	BCAS3	OMIM:619641
HP:0000232	Everted lower lip vermilion	54870	QRICH1	OMIM:617982
HP:0000232	Everted lower lip vermilion	56098	PCDHGC4	OMIM:619880
HP:0000232	Everted lower lip vermilion	53335	BCL11A	OMIM:617101
HP:0000232	Everted lower lip vermilion	57688	ZSWIM6	OMIM:617865
HP:0000232	Everted lower lip vermilion	4784	NFIX	OMIM:614753
HP:0000232	Everted lower lip vermilion	4190	MDH1	OMIM:618959
HP:0000232	Everted lower lip vermilion	57192	MCOLN1	ORPHA:578
HP:0000232	Everted lower lip vermilion	2273	FHL1	OMIM:300280
HP:0000232	Everted lower lip vermilion	55691	FRMD4A	OMIM:616819
HP:0000232	Everted lower lip vermilion	3756	KCNH1	ORPHA:420561
HP:0000232	Everted lower lip vermilion	10430	TMEM147	OMIM:620075
HP:0000232	Everted lower lip vermilion	5080	PAX6	ORPHA:893
HP:0000232	Everted lower lip vermilion	7490	WT1	ORPHA:893
HP:0000232	Everted lower lip vermilion	627	BDNF	ORPHA:893
HP:0000232	Everted lower lip vermilion	7030	TFE3	OMIM:301066
HP:0000232	Everted lower lip vermilion	79989	IFT56	OMIM:619534
HP:0000232	Everted lower lip vermilion	650	BMP2	OMIM:617877
HP:0000232	Everted lower lip vermilion	9487	PIGL	OMIM:280000
HP:0000232	Everted lower lip vermilion	27316	RBMX	ORPHA:85286
HP:0000232	Everted lower lip vermilion	22930	RAB3GAP1	ORPHA:1387
HP:0000232	Everted lower lip vermilion	25782	RAB3GAP2	ORPHA:1387
HP:0000232	Everted lower lip vermilion	84700	MYO18B	OMIM:616549
HP:0000232	Everted lower lip vermilion	23389	MED13L	OMIM:616789
HP:0000232	Everted lower lip vermilion	138050	HGSNAT	OMIM:252930
HP:0000232	Everted lower lip vermilion	4733	DRG1	OMIM:620641
HP:0000232	Everted lower lip vermilion	3778	KCNMA1	OMIM:618729
HP:0000232	Everted lower lip vermilion	3339	HSPG2	ORPHA:800
HP:0000232	Everted lower lip vermilion	1917	EEF1A2	OMIM:616393
HP:0000232	Everted lower lip vermilion	22907	DHX30	OMIM:617804
HP:0000232	Everted lower lip vermilion	2245	FGD1	ORPHA:915
HP:0000232	Everted lower lip vermilion	84168	ANTXR1	ORPHA:2067
HP:0000232	Everted lower lip vermilion	58508	KMT2C	OMIM:617768
HP:0000232	Everted lower lip vermilion	6664	SOX11	OMIM:615866
HP:0000232	Everted lower lip vermilion	9898	UBAP2L	OMIM:620494
HP:0000232	Everted lower lip vermilion	4487	MSX1	ORPHA:2228
HP:0000232	Everted lower lip vermilion	90952	ESAM	OMIM:620371
HP:0007328	Impaired pain sensation	9759	HDAC4	OMIM:600430
HP:0007328	Impaired pain sensation	253738	EBF3	OMIM:617330
HP:0007328	Impaired pain sensation	55768	NGLY1	OMIM:615273
HP:0007328	Impaired pain sensation	8242	KDM5C	OMIM:300534
HP:0007328	Impaired pain sensation	2892	GRIA3	ORPHA:364028
HP:0007328	Impaired pain sensation	8218	CLTCL1	ORPHA:453510
HP:0007328	Impaired pain sensation	55699	IARS2	OMIM:616007
HP:0007328	Impaired pain sensation	85446	ZFHX2	OMIM:147430
HP:0007328	Impaired pain sensation	7204	TRIO	OMIM:618825
HP:0007328	Impaired pain sensation	7204	TRIO	OMIM:617061
HP:0007328	Impaired pain sensation	4914	NTRK1	ORPHA:64752
HP:0007328	Impaired pain sensation	4914	NTRK1	ORPHA:642
HP:0007328	Impaired pain sensation	4914	NTRK1	OMIM:256800
HP:0007328	Impaired pain sensation	59335	PRDM12	OMIM:616488
HP:0007328	Impaired pain sensation	10059	DNM1L	OMIM:614388
HP:0007328	Impaired pain sensation	4358	MPV17	OMIM:256810
HP:0007328	Impaired pain sensation	781	CACNA2D1	OMIM:620149
HP:0007328	Impaired pain sensation	80036	TRPM3	OMIM:620224
HP:0007328	Impaired pain sensation	55775	TDP1	ORPHA:94124
HP:0007328	Impaired pain sensation	80821	DDHD1	ORPHA:101008
HP:0007328	Impaired pain sensation	219854	TMEM218	OMIM:619562
HP:0007328	Impaired pain sensation	11280	SCN11A	OMIM:615548
HP:0007328	Impaired pain sensation	10073	SNUPN	OMIM:620793
HP:0007328	Impaired pain sensation	64864	RFX7	OMIM:620330
HP:0007328	Impaired pain sensation	10558	SPTLC1	ORPHA:36386
HP:0007328	Impaired pain sensation	51062	ATL1	ORPHA:36386
HP:0007328	Impaired pain sensation	9131	AIFM1	ORPHA:101078
HP:0007328	Impaired pain sensation	87178	PNPT1	ORPHA:101111
HP:0007328	Impaired pain sensation	87178	PNPT1	OMIM:608703
HP:0007328	Impaired pain sensation	25923	ATL3	OMIM:615632
HP:0007328	Impaired pain sensation	8518	ELP1	ORPHA:1764
HP:0007328	Impaired pain sensation	22948	CCT5	ORPHA:139578
HP:0007328	Impaired pain sensation	7415	VCP	ORPHA:435387
HP:0007328	Impaired pain sensation	4010	LMX1B	ORPHA:2614
HP:0007328	Impaired pain sensation	19	ABCA1	OMIM:205400
HP:0007328	Impaired pain sensation	5165	PDK3	OMIM:300905
HP:0007328	Impaired pain sensation	6335	SCN9A	OMIM:167400
HP:0007328	Impaired pain sensation	4803	NGF	OMIM:608654
HP:0007328	Impaired pain sensation	4747	NEFL	OMIM:607684
HP:0007328	Impaired pain sensation	4747	NEFL	ORPHA:101085
HP:0007328	Impaired pain sensation	85358	SHANK3	OMIM:606232
HP:0007328	Impaired pain sensation	2705	GJB1	ORPHA:101075
HP:0007328	Impaired pain sensation	100033413	SNORD116-1	OMIM:176270
HP:0007328	Impaired pain sensation	8924	HERC2	OMIM:176270
HP:0007328	Impaired pain sensation	23742	NPAP1	OMIM:176270
HP:0007328	Impaired pain sensation	338433	SNORD115-1	OMIM:176270
HP:0007328	Impaired pain sensation	54551	MAGEL2	OMIM:176270
HP:0007328	Impaired pain sensation	7681	MKRN3	OMIM:176270
HP:0007328	Impaired pain sensation	145624	PWAR1	OMIM:176270
HP:0007328	Impaired pain sensation	3653	IPW	OMIM:176270
HP:0007328	Impaired pain sensation	791114	PWRN1	OMIM:176270
HP:0007328	Impaired pain sensation	7343	UBTF	ORPHA:500180
HP:0007328	Impaired pain sensation	3190	HNRNPK	ORPHA:453504
HP:0007328	Impaired pain sensation	3190	HNRNPK	ORPHA:352665
HP:0007328	Impaired pain sensation	9839	ZEB2	ORPHA:261537
HP:0007328	Impaired pain sensation	9839	ZEB2	ORPHA:261552
HP:0007328	Impaired pain sensation	5631	PRPS1	ORPHA:99014
HP:0007328	Impaired pain sensation	6792	CDKL5	ORPHA:3095
HP:0007328	Impaired pain sensation	6792	CDKL5	ORPHA:505652
HP:0007328	Impaired pain sensation	22854	NTNG1	ORPHA:3095
HP:0007328	Impaired pain sensation	9568	GABBR2	ORPHA:3095
HP:0007328	Impaired pain sensation	4204	MECP2	ORPHA:3095
HP:0007328	Impaired pain sensation	8243	SMC1A	ORPHA:3095
HP:0007328	Impaired pain sensation	8567	MADD	OMIM:619004
HP:0007328	Impaired pain sensation	8567	MADD	OMIM:619005
HP:0007328	Impaired pain sensation	5375	PMP2	OMIM:618279
HP:0007328	Impaired pain sensation	8566	PDXK	OMIM:618511
HP:0007328	Impaired pain sensation	283489	CHAMP1	OMIM:616579
HP:0007328	Impaired pain sensation	6652	SORD	OMIM:618912
HP:0007328	Impaired pain sensation	3035	HARS1	ORPHA:488333
HP:0007328	Impaired pain sensation	2314	FLII	ORPHA:819
HP:0007328	Impaired pain sensation	23096	IQSEC2	ORPHA:819
HP:0007328	Impaired pain sensation	10743	RAI1	ORPHA:819
HP:0007328	Impaired pain sensation	10743	RAI1	OMIM:182290
HP:0007328	Impaired pain sensation	10522	DEAF1	ORPHA:819
HP:0007328	Impaired pain sensation	3481	IGF2	ORPHA:2128
HP:0007328	Impaired pain sensation	10984	KCNQ1OT1	ORPHA:2128
HP:0007328	Impaired pain sensation	283120	H19	ORPHA:2128
HP:0007328	Impaired pain sensation	54332	GDAP1	OMIM:607706
HP:0007328	Impaired pain sensation	54332	GDAP1	ORPHA:101097
HP:0007328	Impaired pain sensation	54332	GDAP1	ORPHA:99948
HP:0007328	Impaired pain sensation	8888	MCM3AP	OMIM:618124
HP:0007328	Impaired pain sensation	182	JAG1	OMIM:619574
HP:0007328	Impaired pain sensation	3977	LIFR	ORPHA:3206
HP:0007328	Impaired pain sensation	3977	LIFR	OMIM:601559
HP:0007328	Impaired pain sensation	2200	FBN1	ORPHA:2833
HP:0007328	Impaired pain sensation	3098	HK1	ORPHA:99953
HP:0007328	Impaired pain sensation	59345	GNB4	OMIM:615185
HP:0007328	Impaired pain sensation	9517	SPTLC2	OMIM:613640
HP:0007328	Impaired pain sensation	5981	RFC1	OMIM:614575
HP:0007328	Impaired pain sensation	79628	SH3TC2	ORPHA:99949
HP:0007328	Impaired pain sensation	57410	SCYL1	OMIM:616719
HP:0007328	Impaired pain sensation	9927	MFN2	ORPHA:99947
HP:0007328	Impaired pain sensation	3315	HSPB1	ORPHA:99940
HP:0007328	Impaired pain sensation	6310	ATXN1	OMIM:164400
HP:0007328	Impaired pain sensation	5376	PMP22	ORPHA:3115
HP:0007328	Impaired pain sensation	4359	MPZ	ORPHA:3115
HP:0002714	Downturned corners of mouth	8243	SMC1A	OMIM:300590
HP:0002714	Downturned corners of mouth	8243	SMC1A	OMIM:301044
HP:0002714	Downturned corners of mouth	8243	SMC1A	ORPHA:199
HP:0002714	Downturned corners of mouth	6309	SC5D	ORPHA:46059
HP:0002714	Downturned corners of mouth	8367	H4C5	OMIM:619950
HP:0002714	Downturned corners of mouth	340533	NEXMIF	OMIM:300912
HP:0002714	Downturned corners of mouth	23241	PACS2	OMIM:618067
HP:0002714	Downturned corners of mouth	775	CACNA1C	OMIM:620029
HP:0002714	Downturned corners of mouth	23126	POGZ	ORPHA:468678
HP:0002714	Downturned corners of mouth	23126	POGZ	OMIM:616364
HP:0002714	Downturned corners of mouth	55209	SETD5	ORPHA:404440
HP:0002714	Downturned corners of mouth	55209	SETD5	OMIM:615761
HP:0002714	Downturned corners of mouth	3190	HNRNPK	ORPHA:453504
HP:0002714	Downturned corners of mouth	3190	HNRNPK	OMIM:616580
HP:0002714	Downturned corners of mouth	3190	HNRNPK	ORPHA:352665
HP:0002714	Downturned corners of mouth	197131	UBR1	OMIM:243800
HP:0002714	Downturned corners of mouth	116931	MED12L	OMIM:618872
HP:0002714	Downturned corners of mouth	374654	KIF7	OMIM:200990
HP:0002714	Downturned corners of mouth	3020	H3-3A	OMIM:619720
HP:0002714	Downturned corners of mouth	55690	PACS1	OMIM:615009
HP:0002714	Downturned corners of mouth	55690	PACS1	ORPHA:329224
HP:0002714	Downturned corners of mouth	55650	PIGV	OMIM:239300
HP:0002714	Downturned corners of mouth	55650	PIGV	ORPHA:247262
HP:0002714	Downturned corners of mouth	1146	CHRNG	OMIM:265000
HP:0002714	Downturned corners of mouth	56992	KIF15	ORPHA:261323
HP:0002714	Downturned corners of mouth	83696	TRAPPC9	OMIM:613192
HP:0002714	Downturned corners of mouth	83696	TRAPPC9	ORPHA:352530
HP:0002714	Downturned corners of mouth	84992	PIGY	ORPHA:247262
HP:0002714	Downturned corners of mouth	84720	PIGO	ORPHA:247262
HP:0002714	Downturned corners of mouth	93210	PGAP3	ORPHA:247262
HP:0002714	Downturned corners of mouth	284098	PIGW	ORPHA:247262
HP:0002714	Downturned corners of mouth	27315	PGAP2	ORPHA:247262
HP:0002714	Downturned corners of mouth	9487	PIGL	ORPHA:247262
HP:0002714	Downturned corners of mouth	55870	ASH1L	OMIM:617796
HP:0002714	Downturned corners of mouth	3899	AFF3	OMIM:619297
HP:0002714	Downturned corners of mouth	1020	CDK5	OMIM:616342
HP:0002714	Downturned corners of mouth	80204	FBXO11	OMIM:618089
HP:0002714	Downturned corners of mouth	7994	KAT6A	ORPHA:457193
HP:0002714	Downturned corners of mouth	7994	KAT6A	OMIM:616268
HP:0002714	Downturned corners of mouth	64359	NXN	ORPHA:1507
HP:0002714	Downturned corners of mouth	4920	ROR2	ORPHA:1507
HP:0002714	Downturned corners of mouth	4920	ROR2	OMIM:268310
HP:0002714	Downturned corners of mouth	57531	HACE1	ORPHA:464282
HP:0002714	Downturned corners of mouth	10815	CPLX1	ORPHA:280
HP:0002714	Downturned corners of mouth	10815	CPLX1	OMIM:194190
HP:0002714	Downturned corners of mouth	54872	PIGG	ORPHA:280
HP:0002714	Downturned corners of mouth	7469	NELFA	ORPHA:280
HP:0002714	Downturned corners of mouth	1487	CTBP1	ORPHA:280
HP:0002714	Downturned corners of mouth	1487	CTBP1	OMIM:194190
HP:0002714	Downturned corners of mouth	3954	LETM1	ORPHA:280
HP:0002714	Downturned corners of mouth	3954	LETM1	OMIM:194190
HP:0002714	Downturned corners of mouth	7468	NSD2	ORPHA:280
HP:0002714	Downturned corners of mouth	7468	NSD2	OMIM:194190
HP:0002714	Downturned corners of mouth	22884	WDR37	OMIM:618652
HP:0002714	Downturned corners of mouth	1009	CDH11	ORPHA:1299
HP:0002714	Downturned corners of mouth	2783	GNB2	OMIM:619503
HP:0002714	Downturned corners of mouth	6602	SMARCD1	OMIM:618779
HP:0002714	Downturned corners of mouth	8642	DCHS1	OMIM:601390
HP:0002714	Downturned corners of mouth	53834	FGFRL1	OMIM:194190
HP:0002714	Downturned corners of mouth	4853	NOTCH2	ORPHA:955
HP:0002714	Downturned corners of mouth	26834	RNU4-2	OMIM:620851
HP:0002714	Downturned corners of mouth	253738	EBF3	OMIM:617330
HP:0002714	Downturned corners of mouth	51604	PIGT	OMIM:615398
HP:0002714	Downturned corners of mouth	51604	PIGT	ORPHA:369837
HP:0002714	Downturned corners of mouth	7862	BRPF1	OMIM:617333
HP:0002714	Downturned corners of mouth	1857	DVL3	ORPHA:3107
HP:0002714	Downturned corners of mouth	1857	DVL3	OMIM:616894
HP:0002714	Downturned corners of mouth	7474	WNT5A	ORPHA:3107
HP:0002714	Downturned corners of mouth	7474	WNT5A	OMIM:180700
HP:0002714	Downturned corners of mouth	1855	DVL1	ORPHA:3107
HP:0002714	Downturned corners of mouth	1855	DVL1	OMIM:180700
HP:0002714	Downturned corners of mouth	2535	FZD2	ORPHA:3107
HP:0002714	Downturned corners of mouth	8363	H4C11	OMIM:619759
HP:0002714	Downturned corners of mouth	27125	AFF4	OMIM:616368
HP:0002714	Downturned corners of mouth	27125	AFF4	ORPHA:444077
HP:0002714	Downturned corners of mouth	64327	LMBR1	ORPHA:2378
HP:0002714	Downturned corners of mouth	3211	HOXB1	OMIM:614744
HP:0002714	Downturned corners of mouth	773	CACNA1A	ORPHA:2131
HP:0002714	Downturned corners of mouth	6507	SLC1A3	ORPHA:2131
HP:0002714	Downturned corners of mouth	477	ATP1A2	ORPHA:2131
HP:0002714	Downturned corners of mouth	478	ATP1A3	ORPHA:2131
HP:0002714	Downturned corners of mouth	9091	PIGQ	OMIM:618548
HP:0002714	Downturned corners of mouth	11128	POLR3A	OMIM:264090
HP:0002714	Downturned corners of mouth	11128	POLR3A	ORPHA:3455
HP:0002714	Downturned corners of mouth	8085	KMT2D	OMIM:620186
HP:0002714	Downturned corners of mouth	23137	SMC5	OMIM:620185
HP:0002714	Downturned corners of mouth	2736	GLI2	OMIM:610829
HP:0002714	Downturned corners of mouth	51611	DPH5	OMIM:620070
HP:0002714	Downturned corners of mouth	78989	COLEC11	OMIM:265050
HP:0002714	Downturned corners of mouth	78989	COLEC11	ORPHA:293843
HP:0002714	Downturned corners of mouth	26137	ZBTB20	OMIM:259050
HP:0002714	Downturned corners of mouth	7750	ZMYM2	OMIM:619522
HP:0002714	Downturned corners of mouth	27086	FOXP1	ORPHA:391372
HP:0002714	Downturned corners of mouth	4849	CNOT3	OMIM:618672
HP:0002714	Downturned corners of mouth	6942	TCF20	OMIM:618430
HP:0002714	Downturned corners of mouth	23261	CAMTA1	OMIM:614756
HP:0002714	Downturned corners of mouth	84919	PPP1R15B	OMIM:616817
HP:0002714	Downturned corners of mouth	84919	PPP1R15B	ORPHA:391408
HP:0002714	Downturned corners of mouth	6638	SNRPN	ORPHA:98754
HP:0002714	Downturned corners of mouth	6638	SNRPN	ORPHA:177904
HP:0002714	Downturned corners of mouth	6638	SNRPN	ORPHA:177901
HP:0002714	Downturned corners of mouth	6638	SNRPN	ORPHA:177907
HP:0002714	Downturned corners of mouth	4692	NDN	ORPHA:98754
HP:0002714	Downturned corners of mouth	4692	NDN	ORPHA:177904
HP:0002714	Downturned corners of mouth	4692	NDN	ORPHA:177901
HP:0002714	Downturned corners of mouth	54551	MAGEL2	ORPHA:98754
HP:0002714	Downturned corners of mouth	54551	MAGEL2	OMIM:176270
HP:0002714	Downturned corners of mouth	54551	MAGEL2	ORPHA:177904
HP:0002714	Downturned corners of mouth	54551	MAGEL2	ORPHA:177901
HP:0002714	Downturned corners of mouth	54551	MAGEL2	ORPHA:398069
HP:0002714	Downturned corners of mouth	4948	OCA2	ORPHA:98754
HP:0002714	Downturned corners of mouth	4948	OCA2	ORPHA:177904
HP:0002714	Downturned corners of mouth	4948	OCA2	ORPHA:177901
HP:0002714	Downturned corners of mouth	5295	PIK3R1	OMIM:269880
HP:0002714	Downturned corners of mouth	10743	RAI1	OMIM:182290
HP:0002714	Downturned corners of mouth	57479	PRR12	OMIM:619539
HP:0002714	Downturned corners of mouth	25836	NIPBL	OMIM:122470
HP:0002714	Downturned corners of mouth	25836	NIPBL	ORPHA:199
HP:0002714	Downturned corners of mouth	79718	TBL1XR1	OMIM:616944
HP:0002714	Downturned corners of mouth	51322	WAC	OMIM:616708
HP:0002714	Downturned corners of mouth	3756	KCNH1	OMIM:611816
HP:0002714	Downturned corners of mouth	3756	KCNH1	OMIM:135500
HP:0002714	Downturned corners of mouth	117581	TWIST2	ORPHA:1807
HP:0002714	Downturned corners of mouth	1917	EEF1A2	OMIM:616393
HP:0002714	Downturned corners of mouth	8621	CDK13	OMIM:617360
HP:0002714	Downturned corners of mouth	26173	INTS1	OMIM:618571
HP:0002714	Downturned corners of mouth	4208	MEF2C	OMIM:613443
HP:0002714	Downturned corners of mouth	7319	UBE2A	ORPHA:163956
HP:0002714	Downturned corners of mouth	7319	UBE2A	OMIM:300860
HP:0002714	Downturned corners of mouth	78987	CRELD1	OMIM:620771
HP:0002714	Downturned corners of mouth	55906	ZC4H2	OMIM:301041
HP:0002714	Downturned corners of mouth	29926	GMPPA	OMIM:615510
HP:0002714	Downturned corners of mouth	9759	HDAC4	ORPHA:1001
HP:0002714	Downturned corners of mouth	10785	WDR4	OMIM:618347
HP:0002714	Downturned corners of mouth	55628	ZNF407	OMIM:619557
HP:0002714	Downturned corners of mouth	100151683	RNU4ATAC	ORPHA:353298
HP:0002714	Downturned corners of mouth	100151683	RNU4ATAC	OMIM:616651
HP:0002714	Downturned corners of mouth	79813	EHMT1	ORPHA:96147
HP:0002714	Downturned corners of mouth	23028	KDM1A	OMIM:616728
HP:0002714	Downturned corners of mouth	2202	EFEMP1	OMIM:620780
HP:0002714	Downturned corners of mouth	100033413	SNORD116-1	OMIM:176270
HP:0002714	Downturned corners of mouth	8924	HERC2	OMIM:176270
HP:0002714	Downturned corners of mouth	23742	NPAP1	OMIM:176270
HP:0002714	Downturned corners of mouth	338433	SNORD115-1	OMIM:176270
HP:0002714	Downturned corners of mouth	7681	MKRN3	OMIM:176270
HP:0002714	Downturned corners of mouth	145624	PWAR1	OMIM:176270
HP:0002714	Downturned corners of mouth	3653	IPW	OMIM:176270
HP:0002714	Downturned corners of mouth	791114	PWRN1	OMIM:176270
HP:0002714	Downturned corners of mouth	128869	PIGU	OMIM:618590
HP:0002714	Downturned corners of mouth	5575	PRKAR1B	OMIM:619680
HP:0002714	Downturned corners of mouth	55869	HDAC8	OMIM:300882
HP:0002714	Downturned corners of mouth	55869	HDAC8	ORPHA:199
HP:0002714	Downturned corners of mouth	57465	TBC1D24	OMIM:220500
HP:0002714	Downturned corners of mouth	57465	TBC1D24	ORPHA:79500
HP:0002714	Downturned corners of mouth	10847	SRCAP	OMIM:136140
HP:0002714	Downturned corners of mouth	388015	RTL1	ORPHA:254525
HP:0002714	Downturned corners of mouth	8788	DLK1	ORPHA:254525
HP:0002714	Downturned corners of mouth	55384	MEG3	ORPHA:254525
HP:0002714	Downturned corners of mouth	6651	SON	OMIM:617140
HP:0002714	Downturned corners of mouth	6651	SON	ORPHA:500150
HP:0002714	Downturned corners of mouth	23030	KDM4B	OMIM:619320
HP:0002714	Downturned corners of mouth	8882	ZPR1	OMIM:619321
HP:0002714	Downturned corners of mouth	6492	SIM1	ORPHA:398079
HP:0002714	Downturned corners of mouth	998	CDC42	OMIM:616737
HP:0002714	Downturned corners of mouth	998	CDC42	ORPHA:487796
HP:0002714	Downturned corners of mouth	3767	KCNJ11	ORPHA:79134
HP:0002714	Downturned corners of mouth	3767	KCNJ11	ORPHA:99885
HP:0002714	Downturned corners of mouth	3767	KCNJ11	OMIM:618856
HP:0002714	Downturned corners of mouth	79731	NARS2	ORPHA:79134
HP:0002714	Downturned corners of mouth	6833	ABCC8	ORPHA:79134
HP:0002714	Downturned corners of mouth	6833	ABCC8	ORPHA:99885
HP:0002714	Downturned corners of mouth	6774	STAT3	ORPHA:99885
HP:0002714	Downturned corners of mouth	2645	GCK	ORPHA:99885
HP:0002714	Downturned corners of mouth	3651	PDX1	ORPHA:99885
HP:0002714	Downturned corners of mouth	3630	INS	ORPHA:99885
HP:0002714	Downturned corners of mouth	2710	GK	OMIM:307030
HP:0002714	Downturned corners of mouth	9126	SMC3	OMIM:610759
HP:0002714	Downturned corners of mouth	9126	SMC3	ORPHA:199
HP:0002714	Downturned corners of mouth	90161	HS6ST2	OMIM:301025
HP:0002714	Downturned corners of mouth	2239	GPC4	OMIM:301026
HP:0002714	Downturned corners of mouth	55777	MBD5	OMIM:156200
HP:0002714	Downturned corners of mouth	51132	RLIM	OMIM:300978
HP:0002714	Downturned corners of mouth	3481	IGF2	OMIM:180860
HP:0002714	Downturned corners of mouth	23389	MED13L	ORPHA:369891
HP:0002714	Downturned corners of mouth	7703	PCGF2	OMIM:618371
HP:0002714	Downturned corners of mouth	5422	POLA1	OMIM:301030
HP:0002714	Downturned corners of mouth	10943	MSL3	OMIM:301032
HP:0002714	Downturned corners of mouth	8091	HMGA2	ORPHA:94063
HP:0002714	Downturned corners of mouth	23592	LEMD3	ORPHA:94063
HP:0002714	Downturned corners of mouth	5277	PIGA	OMIM:300868
HP:0002714	Downturned corners of mouth	8985	PLOD3	OMIM:612394
HP:0002714	Downturned corners of mouth	25	ABL1	OMIM:617602
HP:0002714	Downturned corners of mouth	79633	FAT4	OMIM:615546
HP:0002714	Downturned corners of mouth	23476	BRD4	ORPHA:199
HP:0002714	Downturned corners of mouth	6878	TAF6	ORPHA:199
HP:0002714	Downturned corners of mouth	5885	RAD21	ORPHA:199
HP:0002714	Downturned corners of mouth	9851	KIAA0753	OMIM:619476
HP:0002714	Downturned corners of mouth	57003	CCDC47	OMIM:618268
HP:0002714	Downturned corners of mouth	134218	DNAJC21	OMIM:617052
HP:0002714	Downturned corners of mouth	5977	DPF2	OMIM:618027
HP:0002714	Downturned corners of mouth	1859	DYRK1A	OMIM:614104
HP:0002714	Downturned corners of mouth	22931	RAB18	OMIM:614222
HP:0002714	Downturned corners of mouth	9894	TELO2	ORPHA:488642
HP:0002714	Downturned corners of mouth	79005	SCNM1	OMIM:620107
HP:0002714	Downturned corners of mouth	246329	STAC3	ORPHA:168572
HP:0002714	Downturned corners of mouth	246329	STAC3	OMIM:255995
HP:0002714	Downturned corners of mouth	9935	MAFB	ORPHA:2774
HP:0002714	Downturned corners of mouth	526	ATP6V1B2	ORPHA:79500
HP:0002714	Downturned corners of mouth	2132	EXT2	ORPHA:52022
HP:0002714	Downturned corners of mouth	60529	ALX4	ORPHA:52022
HP:0002714	Downturned corners of mouth	51317	PHF21A	ORPHA:52022
HP:0002714	Downturned corners of mouth	2887	GRB10	ORPHA:96182
HP:0002714	Downturned corners of mouth	55617	TASP1	OMIM:618950
HP:0002714	Downturned corners of mouth	6472	SHMT2	OMIM:619121
HP:0002714	Downturned corners of mouth	57688	ZSWIM6	OMIM:617865
HP:0002714	Downturned corners of mouth	93587	TRMT10A	ORPHA:391408
HP:0002714	Downturned corners of mouth	84628	NTNG2	OMIM:618718
HP:0002714	Downturned corners of mouth	9320	TRIP12	OMIM:617752
HP:0002714	Downturned corners of mouth	1968	EIF2S3	ORPHA:85282
HP:0002714	Downturned corners of mouth	10584	COLEC10	ORPHA:293843
HP:0002714	Downturned corners of mouth	5648	MASP1	ORPHA:293843
HP:0002714	Downturned corners of mouth	3778	KCNMA1	OMIM:618729
HP:0002714	Downturned corners of mouth	29071	C1GALT1C1	OMIM:301110
HP:0002714	Downturned corners of mouth	57647	DHX37	OMIM:618731
HP:0002714	Downturned corners of mouth	101929726	MYMX	OMIM:619941
HP:0002714	Downturned corners of mouth	4858	NOVA2	OMIM:618859
HP:0002714	Downturned corners of mouth	84148	KAT8	OMIM:618974
HP:0002714	Downturned corners of mouth	1460	CSNK2B	OMIM:618732
HP:0002714	Downturned corners of mouth	27445	PCLO	OMIM:608027
HP:0002716	Lymphadenopathy	64170	CARD9	OMIM:212050
HP:0002716	Lymphadenopathy	171023	ASXL1	ORPHA:98850
HP:0002716	Lymphadenopathy	171023	ASXL1	ORPHA:98849
HP:0002716	Lymphadenopathy	54790	TET2	ORPHA:98850
HP:0002716	Lymphadenopathy	54790	TET2	ORPHA:98849
HP:0002716	Lymphadenopathy	54790	TET2	ORPHA:824
HP:0002716	Lymphadenopathy	54790	TET2	OMIM:619126
HP:0002716	Lymphadenopathy	867	CBL	ORPHA:98850
HP:0002716	Lymphadenopathy	861	RUNX1	ORPHA:98850
HP:0002716	Lymphadenopathy	6427	SRSF2	ORPHA:98850
HP:0002716	Lymphadenopathy	6427	SRSF2	ORPHA:98849
HP:0002716	Lymphadenopathy	355	FAS	ORPHA:3261
HP:0002716	Lymphadenopathy	355	FAS	ORPHA:117
HP:0002716	Lymphadenopathy	356	FASLG	ORPHA:3261
HP:0002716	Lymphadenopathy	843	CASP10	ORPHA:3261
HP:0002716	Lymphadenopathy	843	CASP10	OMIM:603909
HP:0002716	Lymphadenopathy	90268	OTULIN	OMIM:617099
HP:0002716	Lymphadenopathy	3071	NCKAP1L	OMIM:618982
HP:0002716	Lymphadenopathy	144811	LACC1	ORPHA:85414
HP:0002716	Lymphadenopathy	4282	MIF	ORPHA:85414
HP:0002716	Lymphadenopathy	3123	HLA-DRB1	ORPHA:85414
HP:0002716	Lymphadenopathy	3123	HLA-DRB1	ORPHA:545
HP:0002716	Lymphadenopathy	3123	HLA-DRB1	ORPHA:536
HP:0002716	Lymphadenopathy	3123	HLA-DRB1	ORPHA:797
HP:0002716	Lymphadenopathy	3569	IL6	ORPHA:85414
HP:0002716	Lymphadenopathy	114548	NLRP3	OMIM:617772
HP:0002716	Lymphadenopathy	114548	NLRP3	OMIM:607115
HP:0002716	Lymphadenopathy	114548	NLRP3	ORPHA:1451
HP:0002716	Lymphadenopathy	1493	CTLA4	ORPHA:436159
HP:0002716	Lymphadenopathy	1493	CTLA4	OMIM:616100
HP:0002716	Lymphadenopathy	1493	CTLA4	ORPHA:2584
HP:0002716	Lymphadenopathy	1493	CTLA4	ORPHA:536
HP:0002716	Lymphadenopathy	1493	CTLA4	ORPHA:3162
HP:0002716	Lymphadenopathy	4598	MVK	OMIM:260920
HP:0002716	Lymphadenopathy	4598	MVK	OMIM:610377
HP:0002716	Lymphadenopathy	4598	MVK	ORPHA:343
HP:0002716	Lymphadenopathy	3815	KIT	ORPHA:98849
HP:0002716	Lymphadenopathy	3815	KIT	ORPHA:79455
HP:0002716	Lymphadenopathy	987	LRBA	OMIM:614700
HP:0002716	Lymphadenopathy	811	CALR	ORPHA:824
HP:0002716	Lymphadenopathy	4352	MPL	ORPHA:824
HP:0002716	Lymphadenopathy	3717	JAK2	ORPHA:824
HP:0002716	Lymphadenopathy	7518	XRCC4	ORPHA:99812
HP:0002716	Lymphadenopathy	3981	LIG4	ORPHA:99812
HP:0002716	Lymphadenopathy	3981	LIG4	ORPHA:39041
HP:0002716	Lymphadenopathy	7174	TPP2	ORPHA:444463
HP:0002716	Lymphadenopathy	7174	TPP2	OMIM:619220
HP:0002716	Lymphadenopathy	5604	MAP2K1	ORPHA:389
HP:0002716	Lymphadenopathy	4893	NRAS	ORPHA:389
HP:0002716	Lymphadenopathy	673	BRAF	ORPHA:389
HP:0002716	Lymphadenopathy	6775	STAT4	ORPHA:85408
HP:0002716	Lymphadenopathy	6775	STAT4	ORPHA:117
HP:0002716	Lymphadenopathy	6775	STAT4	ORPHA:93552
HP:0002716	Lymphadenopathy	6775	STAT4	ORPHA:536
HP:0002716	Lymphadenopathy	3560	IL2RB	ORPHA:85408
HP:0002716	Lymphadenopathy	3560	IL2RB	OMIM:618495
HP:0002716	Lymphadenopathy	79722	ANKRD55	ORPHA:85408
HP:0002716	Lymphadenopathy	26191	PTPN22	ORPHA:85408
HP:0002716	Lymphadenopathy	26191	PTPN22	ORPHA:536
HP:0002716	Lymphadenopathy	919	CD247	ORPHA:85408
HP:0002716	Lymphadenopathy	3559	IL2RA	ORPHA:85408
HP:0002716	Lymphadenopathy	3559	IL2RA	OMIM:606367
HP:0002716	Lymphadenopathy	5771	PTPN2	ORPHA:85408
HP:0002716	Lymphadenopathy	939	CD27	OMIM:615122
HP:0002716	Lymphadenopathy	23149	FCHO1	OMIM:619164
HP:0002716	Lymphadenopathy	2130	EWSR1	ORPHA:83469
HP:0002716	Lymphadenopathy	7490	WT1	ORPHA:83469
HP:0002716	Lymphadenopathy	7490	WT1	ORPHA:654
HP:0002716	Lymphadenopathy	3162	HMOX1	OMIM:614034
HP:0002716	Lymphadenopathy	841	CASP8	OMIM:607271
HP:0002716	Lymphadenopathy	8456	FOXN1	ORPHA:83471
HP:0002716	Lymphadenopathy	56259	CTNNBL1	OMIM:619846
HP:0002716	Lymphadenopathy	1277	COL1A1	ORPHA:31112
HP:0002716	Lymphadenopathy	5155	PDGFB	ORPHA:31112
HP:0002716	Lymphadenopathy	54	ACP5	OMIM:607944
HP:0002716	Lymphadenopathy	6772	STAT1	OMIM:614162
HP:0002716	Lymphadenopathy	115650	TNFRSF13C	OMIM:240500
HP:0002716	Lymphadenopathy	115650	TNFRSF13C	ORPHA:1572
HP:0002716	Lymphadenopathy	29851	ICOS	OMIM:240500
HP:0002716	Lymphadenopathy	29851	ICOS	OMIM:607594
HP:0002716	Lymphadenopathy	29851	ICOS	ORPHA:1572
HP:0002716	Lymphadenopathy	930	CD19	OMIM:240500
HP:0002716	Lymphadenopathy	930	CD19	ORPHA:1572
HP:0002716	Lymphadenopathy	23495	TNFRSF13B	OMIM:240500
HP:0002716	Lymphadenopathy	23495	TNFRSF13B	ORPHA:1572
HP:0002716	Lymphadenopathy	1380	CR2	OMIM:240500
HP:0002716	Lymphadenopathy	1380	CR2	ORPHA:536
HP:0002716	Lymphadenopathy	1380	CR2	ORPHA:1572
HP:0002716	Lymphadenopathy	6786	STIM1	OMIM:612783
HP:0002716	Lymphadenopathy	1130	LYST	ORPHA:167
HP:0002716	Lymphadenopathy	1130	LYST	OMIM:214500
HP:0002716	Lymphadenopathy	56984	PSMG2	OMIM:619183
HP:0002716	Lymphadenopathy	7374	UNG	OMIM:608106
HP:0002716	Lymphadenopathy	28755	TRAC	OMIM:615387
HP:0002716	Lymphadenopathy	10125	RASGRP1	OMIM:618534
HP:0002716	Lymphadenopathy	595	CCND1	ORPHA:52416
HP:0002716	Lymphadenopathy	595	CCND1	ORPHA:29073
HP:0002716	Lymphadenopathy	472	ATM	ORPHA:52416
HP:0002716	Lymphadenopathy	3492	IGH	ORPHA:52416
HP:0002716	Lymphadenopathy	3492	IGH	ORPHA:52417
HP:0002716	Lymphadenopathy	3492	IGH	ORPHA:545
HP:0002716	Lymphadenopathy	330	BIRC3	ORPHA:52417
HP:0002716	Lymphadenopathy	10892	MALT1	ORPHA:52417
HP:0002716	Lymphadenopathy	27086	FOXP1	ORPHA:52417
HP:0002716	Lymphadenopathy	8915	BCL10	ORPHA:52417
HP:0002716	Lymphadenopathy	3572	IL6ST	OMIM:619750
HP:0002716	Lymphadenopathy	9508	ADAMTS3	ORPHA:2136
HP:0002716	Lymphadenopathy	147372	CCBE1	ORPHA:2136
HP:0002716	Lymphadenopathy	79633	FAT4	ORPHA:2136
HP:0002716	Lymphadenopathy	9636	ISG15	OMIM:616126
HP:0002716	Lymphadenopathy	6049	RNF6	ORPHA:99977
HP:0002716	Lymphadenopathy	7048	TGFBR2	ORPHA:99977
HP:0002716	Lymphadenopathy	51741	WWOX	ORPHA:99977
HP:0002716	Lymphadenopathy	9940	DLEC1	ORPHA:99977
HP:0002716	Lymphadenopathy	6609	SMPD1	OMIM:257200
HP:0002716	Lymphadenopathy	5896	RAG1	OMIM:603554
HP:0002716	Lymphadenopathy	5896	RAG1	ORPHA:39041
HP:0002716	Lymphadenopathy	5897	RAG2	OMIM:603554
HP:0002716	Lymphadenopathy	5897	RAG2	ORPHA:39041
HP:0002716	Lymphadenopathy	64421	DCLRE1C	OMIM:603554
HP:0002716	Lymphadenopathy	64421	DCLRE1C	ORPHA:39041
HP:0002716	Lymphadenopathy	4210	MEFV	ORPHA:342
HP:0002716	Lymphadenopathy	4210	MEFV	ORPHA:117
HP:0002716	Lymphadenopathy	5551	PRF1	OMIM:603553
HP:0002716	Lymphadenopathy	5551	PRF1	ORPHA:540
HP:0002716	Lymphadenopathy	3575	IL7R	ORPHA:169154
HP:0002716	Lymphadenopathy	3575	IL7R	ORPHA:39041
HP:0002716	Lymphadenopathy	3575	IL7R	OMIM:608971
HP:0002716	Lymphadenopathy	8676	STX11	OMIM:603552
HP:0002716	Lymphadenopathy	8676	STX11	ORPHA:540
HP:0002716	Lymphadenopathy	5728	PTEN	ORPHA:397596
HP:0002716	Lymphadenopathy	5293	PIK3CD	ORPHA:397596
HP:0002716	Lymphadenopathy	5293	PIK3CD	OMIM:615513
HP:0002716	Lymphadenopathy	5295	PIK3R1	ORPHA:397596
HP:0002716	Lymphadenopathy	57169	ZNFX1	OMIM:619644
HP:0002716	Lymphadenopathy	8314	BAP1	ORPHA:50251
HP:0002716	Lymphadenopathy	5692	PSMB4	OMIM:617591
HP:0002716	Lymphadenopathy	8565	YARS1	OMIM:619418
HP:0002716	Lymphadenopathy	50943	FOXP3	ORPHA:37042
HP:0002716	Lymphadenopathy	50943	FOXP3	OMIM:304790
HP:0002716	Lymphadenopathy	1535	CYBA	OMIM:233690
HP:0002716	Lymphadenopathy	64127	NOD2	ORPHA:90340
HP:0002716	Lymphadenopathy	29110	TBK1	OMIM:620880
HP:0002716	Lymphadenopathy	51311	TLR8	OMIM:301078
HP:0002716	Lymphadenopathy	4615	MYD88	ORPHA:33226
HP:0002716	Lymphadenopathy	1536	CYBB	OMIM:306400
HP:0002716	Lymphadenopathy	3394	IRF8	OMIM:614893
HP:0002716	Lymphadenopathy	3394	IRF8	ORPHA:319600
HP:0002716	Lymphadenopathy	7535	ZAP70	ORPHA:911
HP:0002716	Lymphadenopathy	940	CD28	ORPHA:2584
HP:0002716	Lymphadenopathy	940	CD28	ORPHA:3162
HP:0002716	Lymphadenopathy	7133	TNFRSF1B	ORPHA:2584
HP:0002716	Lymphadenopathy	7133	TNFRSF1B	ORPHA:3162
HP:0002716	Lymphadenopathy	149233	IL23R	ORPHA:117
HP:0002716	Lymphadenopathy	3586	IL10	ORPHA:117
HP:0002716	Lymphadenopathy	3586	IL10	ORPHA:536
HP:0002716	Lymphadenopathy	1230	CCR1	ORPHA:117
HP:0002716	Lymphadenopathy	3592	IL12A	ORPHA:117
HP:0002716	Lymphadenopathy	101928376	IL12A-AS1	ORPHA:117
HP:0002716	Lymphadenopathy	3106	HLA-B	ORPHA:117
HP:0002716	Lymphadenopathy	7099	TLR4	ORPHA:117
HP:0002716	Lymphadenopathy	3459	IFNGR1	ORPHA:117
HP:0002716	Lymphadenopathy	3459	IFNGR1	OMIM:209950
HP:0002716	Lymphadenopathy	720	C4A	ORPHA:117
HP:0002716	Lymphadenopathy	720	C4A	ORPHA:536
HP:0002716	Lymphadenopathy	337867	UBAC2	ORPHA:117
HP:0002716	Lymphadenopathy	51752	ERAP1	ORPHA:117
HP:0002716	Lymphadenopathy	8302	KLRC4	ORPHA:117
HP:0002716	Lymphadenopathy	4688	NCF2	OMIM:233710
HP:0002716	Lymphadenopathy	100151683	RNU4ATAC	ORPHA:353298
HP:0002716	Lymphadenopathy	100151683	RNU4ATAC	OMIM:616651
HP:0002716	Lymphadenopathy	6696	SPP1	ORPHA:93552
HP:0002716	Lymphadenopathy	6696	SPP1	ORPHA:536
HP:0002716	Lymphadenopathy	6303	SAT1	ORPHA:93552
HP:0002716	Lymphadenopathy	3654	IRAK1	ORPHA:93552
HP:0002716	Lymphadenopathy	3654	IRAK1	ORPHA:536
HP:0002716	Lymphadenopathy	1776	DNASE1L3	ORPHA:36412
HP:0002716	Lymphadenopathy	596	BCL2	ORPHA:545
HP:0002716	Lymphadenopathy	604	BCL6	ORPHA:545
HP:0002716	Lymphadenopathy	4173	MCM4	OMIM:609981
HP:0002716	Lymphadenopathy	10312	TCIRG1	ORPHA:667
HP:0002716	Lymphadenopathy	1186	CLCN7	ORPHA:667
HP:0002716	Lymphadenopathy	29887	SNX10	ORPHA:667
HP:0002716	Lymphadenopathy	8600	TNFSF11	ORPHA:667
HP:0002716	Lymphadenopathy	201294	UNC13D	ORPHA:540
HP:0002716	Lymphadenopathy	6813	STXBP2	ORPHA:540
HP:0002716	Lymphadenopathy	6813	STXBP2	OMIM:613101
HP:0002716	Lymphadenopathy	55315	SLC29A3	OMIM:602782
HP:0002716	Lymphadenopathy	55315	SLC29A3	ORPHA:168569
HP:0002716	Lymphadenopathy	57379	AICDA	OMIM:605258
HP:0002716	Lymphadenopathy	9948	WDR1	OMIM:150550
HP:0002716	Lymphadenopathy	7248	TSC1	ORPHA:538
HP:0002716	Lymphadenopathy	7249	TSC2	ORPHA:538
HP:0002716	Lymphadenopathy	81858	SHARPIN	OMIM:620795
HP:0002716	Lymphadenopathy	7132	TNFRSF1A	ORPHA:32960
HP:0002716	Lymphadenopathy	9837	GINS1	OMIM:617827
HP:0002716	Lymphadenopathy	1991	ELANE	ORPHA:2686
HP:0002716	Lymphadenopathy	5978	REST	ORPHA:654
HP:0002716	Lymphadenopathy	129563	DIS3L2	ORPHA:654
HP:0002716	Lymphadenopathy	675	BRCA2	ORPHA:654
HP:0002716	Lymphadenopathy	675	BRCA2	ORPHA:1333
HP:0002716	Lymphadenopathy	9319	TRIP13	ORPHA:654
HP:0002716	Lymphadenopathy	10155	TRIM28	ORPHA:654
HP:0002716	Lymphadenopathy	11281	POU6F2	ORPHA:654
HP:0002716	Lymphadenopathy	2719	GPC3	ORPHA:654
HP:0002716	Lymphadenopathy	283120	H19	ORPHA:654
HP:0002716	Lymphadenopathy	4068	SH2D1A	OMIM:308240
HP:0002716	Lymphadenopathy	331	XIAP	OMIM:308240
HP:0002716	Lymphadenopathy	2215	FCGR3B	ORPHA:536
HP:0002716	Lymphadenopathy	3684	ITGAM	ORPHA:536
HP:0002716	Lymphadenopathy	221895	JAZF1	ORPHA:536
HP:0002716	Lymphadenopathy	11277	TREX1	ORPHA:536
HP:0002716	Lymphadenopathy	7292	TNFSF4	ORPHA:536
HP:0002716	Lymphadenopathy	640	BLK	ORPHA:536
HP:0002716	Lymphadenopathy	55024	BANK1	ORPHA:536
HP:0002716	Lymphadenopathy	3500	IGHG1	ORPHA:536
HP:0002716	Lymphadenopathy	5133	PDCD1	ORPHA:536
HP:0002716	Lymphadenopathy	2113	ETS1	ORPHA:536
HP:0002716	Lymphadenopathy	2213	FCGR2B	ORPHA:536
HP:0002716	Lymphadenopathy	10318	TNIP1	ORPHA:536
HP:0002716	Lymphadenopathy	7332	UBE2L3	ORPHA:536
HP:0002716	Lymphadenopathy	79932	KIAA0319L	ORPHA:536
HP:0002716	Lymphadenopathy	4204	MECP2	ORPHA:536
HP:0002716	Lymphadenopathy	3663	IRF5	ORPHA:536
HP:0002716	Lymphadenopathy	721	C4B	ORPHA:536
HP:0002716	Lymphadenopathy	1773	DNASE1	ORPHA:536
HP:0002716	Lymphadenopathy	51284	TLR7	ORPHA:536
HP:0002716	Lymphadenopathy	54899	PXK	ORPHA:536
HP:0002716	Lymphadenopathy	7128	TNFAIP3	ORPHA:536
HP:0002716	Lymphadenopathy	427	ASAH1	ORPHA:333
HP:0002716	Lymphadenopathy	84061	MAGT1	OMIM:300853
HP:0002716	Lymphadenopathy	10616	RBCK1	OMIM:615895
HP:0002716	Lymphadenopathy	10095	ARPC1B	OMIM:617718
HP:0002716	Lymphadenopathy	440275	EIF2AK4	ORPHA:199241
HP:0002716	Lymphadenopathy	79415	CYBC1	OMIM:618935
HP:0002716	Lymphadenopathy	672	BRCA1	ORPHA:1333
HP:0002716	Lymphadenopathy	285282	RABL3	ORPHA:1333
HP:0002716	Lymphadenopathy	7157	TP53	ORPHA:1333
HP:0002716	Lymphadenopathy	3845	KRAS	ORPHA:1333
HP:0002716	Lymphadenopathy	1029	CDKN2A	ORPHA:1333
HP:0002716	Lymphadenopathy	79728	PALB2	ORPHA:1333
HP:0002716	Lymphadenopathy	4089	SMAD4	ORPHA:1333
HP:0002716	Lymphadenopathy	23022	PALLD	ORPHA:1333
HP:0002716	Lymphadenopathy	4790	NFKB1	ORPHA:1572
HP:0002716	Lymphadenopathy	4791	NFKB2	ORPHA:1572
HP:0002716	Lymphadenopathy	8742	TNFSF12	ORPHA:1572
HP:0002716	Lymphadenopathy	931	MS4A1	ORPHA:1572
HP:0002716	Lymphadenopathy	975	CD81	ORPHA:1572
HP:0002716	Lymphadenopathy	359948	IRF2BP2	ORPHA:1572
HP:0002716	Lymphadenopathy	359948	IRF2BP2	ORPHA:520
HP:0002716	Lymphadenopathy	653361	NCF1	OMIM:233700
HP:0002716	Lymphadenopathy	5873	RAB27A	ORPHA:79477
HP:0002716	Lymphadenopathy	56244	BTNL2	ORPHA:797
HP:0002716	Lymphadenopathy	970	CD70	OMIM:618261
HP:0002716	Lymphadenopathy	3702	ITK	OMIM:613011
HP:0002716	Lymphadenopathy	5580	PRKCD	OMIM:615559
HP:0002716	Lymphadenopathy	6023	RMRP	ORPHA:39041
HP:0002716	Lymphadenopathy	55636	CHD7	ORPHA:39041
HP:0002716	Lymphadenopathy	100	ADA	ORPHA:39041
HP:0002716	Lymphadenopathy	3561	IL2RG	ORPHA:39041
HP:0002716	Lymphadenopathy	51816	ADA2	OMIM:615688
HP:0002716	Lymphadenopathy	3931	LCAT	ORPHA:79292
HP:0002716	Lymphadenopathy	91662	NLRP12	OMIM:611762
HP:0002716	Lymphadenopathy	5294	PIK3CG	OMIM:619802
HP:0002716	Lymphadenopathy	51371	POMP	OMIM:618048
HP:0002716	Lymphadenopathy	8651	SOCS1	OMIM:619375
HP:0002716	Lymphadenopathy	27040	LAT	OMIM:617514
HP:0002716	Lymphadenopathy	2624	GATA2	ORPHA:228423
HP:0002716	Lymphadenopathy	6850	SYK	OMIM:619381
HP:0002716	Lymphadenopathy	6774	STAT3	ORPHA:520
HP:0002716	Lymphadenopathy	5371	PML	ORPHA:520
HP:0002716	Lymphadenopathy	5914	RARA	ORPHA:520
HP:0002716	Lymphadenopathy	81608	FIP1L1	ORPHA:520
HP:0002716	Lymphadenopathy	4869	NPM1	ORPHA:520
HP:0002716	Lymphadenopathy	5573	PRKAR1A	ORPHA:520
HP:0002716	Lymphadenopathy	54880	BCOR	ORPHA:520
HP:0002716	Lymphadenopathy	64859	NABP1	ORPHA:520
HP:0002716	Lymphadenopathy	6777	STAT5B	ORPHA:520
HP:0002716	Lymphadenopathy	4926	NUMA1	ORPHA:520
HP:0002716	Lymphadenopathy	7704	ZBTB16	ORPHA:520
HP:0002716	Lymphadenopathy	79718	TBL1XR1	ORPHA:520
HP:0002716	Lymphadenopathy	8737	RIPK1	OMIM:618852
HP:0002716	Lymphadenopathy	28985	MCTS1	OMIM:301115
HP:0002716	Lymphadenopathy	5699	PSMB10	OMIM:620807
HP:0002716	Lymphadenopathy	9051	PSTPIP1	ORPHA:69126
HP:0002716	Lymphadenopathy	5696	PSMB8	OMIM:256040
HP:0002716	Lymphadenopathy	4613	MYCN	ORPHA:635
HP:0002716	Lymphadenopathy	238	ALK	ORPHA:635
HP:0002716	Lymphadenopathy	389421	LIN28B	ORPHA:635
HP:0002716	Lymphadenopathy	4004	LMO1	ORPHA:635
HP:0002716	Lymphadenopathy	57531	HACE1	ORPHA:635
HP:0002716	Lymphadenopathy	8929	PHOX2B	ORPHA:635
HP:0002716	Lymphadenopathy	340061	STING1	OMIM:615934
HP:0002716	Lymphadenopathy	546	ATRX	ORPHA:100075
HP:0002716	Lymphadenopathy	6392	SDHD	ORPHA:100093
HP:0002716	Lymphadenopathy	2304	FOXE1	ORPHA:319487
HP:0002716	Lymphadenopathy	3026	HABP2	ORPHA:319487
HP:0002716	Lymphadenopathy	9562	MINPP1	ORPHA:319487
HP:0002716	Lymphadenopathy	19	ABCA1	ORPHA:31150
HP:0002716	Lymphadenopathy	3604	TNFRSF9	OMIM:620282
HP:0002716	Lymphadenopathy	5880	RAC2	OMIM:618986
HP:0002716	Lymphadenopathy	64135	IFIH1	OMIM:615846
HP:0002716	Lymphadenopathy	4773	NFATC2	OMIM:620232
HP:0002716	Lymphadenopathy	165918	RNF168	ORPHA:420741
HP:0002716	Lymphadenopathy	50619	DEF6	OMIM:619573
HP:0002716	Lymphadenopathy	5335	PLCG1	OMIM:620514
HP:0002716	Lymphadenopathy	6452	SH3BP2	OMIM:118400
HP:0002716	Lymphadenopathy	10551	AGR2	OMIM:620233
HP:0002716	Lymphadenopathy	3659	IRF1	OMIM:620668
HP:0002716	Lymphadenopathy	8974	P4HA2	ORPHA:397
HP:0002716	Lymphadenopathy	3115	HLA-DPB1	ORPHA:133
HP:0002716	Lymphadenopathy	348	APOE	ORPHA:158029
HP:0002716	Lymphadenopathy	7015	TERT	OMIM:614742
HP:0002716	Lymphadenopathy	3662	IRF4	ORPHA:3452
HP:0002716	Lymphadenopathy	4689	NCF4	ORPHA:379
HP:0002717	Adrenal overactivity	4221	MEN1	ORPHA:652
HP:0002717	Adrenal overactivity	4221	MEN1	OMIM:131100
HP:0002717	Adrenal overactivity	1027	CDKN1B	ORPHA:652
HP:0002717	Adrenal overactivity	1027	CDKN1B	ORPHA:276152
HP:0002717	Adrenal overactivity	1026	CDKN1A	ORPHA:652
HP:0002717	Adrenal overactivity	1030	CDKN2B	ORPHA:652
HP:0002717	Adrenal overactivity	1031	CDKN2C	ORPHA:652
HP:0002717	Adrenal overactivity	84196	USP48	ORPHA:96253
HP:0002717	Adrenal overactivity	7157	TP53	ORPHA:96253
HP:0002717	Adrenal overactivity	7157	TP53	ORPHA:1501
HP:0002717	Adrenal overactivity	9101	USP8	ORPHA:96253
HP:0002717	Adrenal overactivity	64072	CDH23	ORPHA:96253
HP:0002717	Adrenal overactivity	2908	NR3C1	ORPHA:96253
HP:0002717	Adrenal overactivity	2908	NR3C1	ORPHA:786
HP:0002717	Adrenal overactivity	2908	NR3C1	OMIM:615962
HP:0002717	Adrenal overactivity	673	BRAF	ORPHA:96253
HP:0002717	Adrenal overactivity	546	ATRX	ORPHA:96253
HP:0002717	Adrenal overactivity	2778	GNAS	OMIM:174800
HP:0002717	Adrenal overactivity	2778	GNAS	OMIM:219080
HP:0002717	Adrenal overactivity	2778	GNAS	ORPHA:562
HP:0002717	Adrenal overactivity	2778	GNAS	OMIM:617686
HP:0002717	Adrenal overactivity	2778	GNAS	ORPHA:189427
HP:0002717	Adrenal overactivity	5566	PRKACA	OMIM:615830
HP:0002717	Adrenal overactivity	23040	MYT1L	OMIM:616521
HP:0002717	Adrenal overactivity	79798	ARMC5	OMIM:615954
HP:0002717	Adrenal overactivity	79798	ARMC5	ORPHA:189427
HP:0002717	Adrenal overactivity	5573	PRKAR1A	OMIM:610489
HP:0002717	Adrenal overactivity	5573	PRKAR1A	ORPHA:1501
HP:0002717	Adrenal overactivity	5573	PRKAR1A	ORPHA:1359
HP:0002717	Adrenal overactivity	3767	KCNJ11	ORPHA:79644
HP:0002717	Adrenal overactivity	84133	ZNRF3	ORPHA:1501
HP:0002717	Adrenal overactivity	1499	CTNNB1	ORPHA:1501
HP:0002717	Adrenal overactivity	1029	CDKN2A	ORPHA:1501
HP:0002717	Adrenal overactivity	7015	TERT	ORPHA:1501
HP:0002717	Adrenal overactivity	5621	PRNP	ORPHA:466
HP:0002717	Adrenal overactivity	8622	PDE8B	OMIM:614190
HP:0002717	Adrenal overactivity	5979	RET	OMIM:171400
HP:0002717	Adrenal overactivity	23028	KDM1A	ORPHA:189427
HP:0002717	Adrenal overactivity	3350	HTR1A	OMIM:614674
HP:0002717	Adrenal overactivity	50940	PDE11A	OMIM:610475
HP:0002717	Adrenal overactivity	50940	PDE11A	ORPHA:1359
HP:0002717	Adrenal overactivity	326	AIRE	ORPHA:3453
HP:0002717	Adrenal overactivity	5447	POR	OMIM:201750
HP:0002717	Adrenal overactivity	1585	CYP11B2	ORPHA:556030
HP:0002717	Adrenal overactivity	1584	CYP11B1	OMIM:202010
HP:0002717	Adrenal overactivity	1589	CYP21A2	OMIM:201910
HP:0002718	Recurrent bacterial infections	3909	LAMA3	ORPHA:79404
HP:0002718	Recurrent bacterial infections	3918	LAMC2	ORPHA:79404
HP:0002718	Recurrent bacterial infections	3914	LAMB3	ORPHA:79404
HP:0002718	Recurrent bacterial infections	3587	IL10RA	OMIM:613148
HP:0002718	Recurrent bacterial infections	3561	IL2RG	ORPHA:276
HP:0002718	Recurrent bacterial infections	7092	TLL1	ORPHA:99103
HP:0002718	Recurrent bacterial infections	57057	TBX20	ORPHA:99103
HP:0002718	Recurrent bacterial infections	4624	MYH6	ORPHA:99103
HP:0002718	Recurrent bacterial infections	1482	NKX2-5	ORPHA:99103
HP:0002718	Recurrent bacterial infections	70	ACTC1	ORPHA:99103
HP:0002718	Recurrent bacterial infections	10370	CITED2	ORPHA:99103
HP:0002718	Recurrent bacterial infections	2626	GATA4	ORPHA:99103
HP:0002718	Recurrent bacterial infections	2627	GATA6	ORPHA:99103
HP:0002718	Recurrent bacterial infections	3689	ITGB2	OMIM:116920
HP:0002718	Recurrent bacterial infections	30011	SH3KBP1	OMIM:300310
HP:0002718	Recurrent bacterial infections	9056	SLC7A7	ORPHA:470
HP:0002718	Recurrent bacterial infections	64421	DCLRE1C	ORPHA:275
HP:0002718	Recurrent bacterial infections	64421	DCLRE1C	OMIM:603554
HP:0002718	Recurrent bacterial infections	7454	WAS	ORPHA:86788
HP:0002718	Recurrent bacterial infections	7454	WAS	OMIM:300299
HP:0002718	Recurrent bacterial infections	54809	SAMD9	OMIM:617053
HP:0002718	Recurrent bacterial infections	6905	TBCE	OMIM:241410
HP:0002718	Recurrent bacterial infections	6905	TBCE	OMIM:244460
HP:0002718	Recurrent bacterial infections	930	CD19	OMIM:613493
HP:0002718	Recurrent bacterial infections	930	CD19	OMIM:240500
HP:0002718	Recurrent bacterial infections	931	MS4A1	OMIM:613495
HP:0002718	Recurrent bacterial infections	8517	IKBKG	OMIM:300636
HP:0002718	Recurrent bacterial infections	8517	IKBKG	OMIM:300291
HP:0002718	Recurrent bacterial infections	8517	IKBKG	ORPHA:98813
HP:0002718	Recurrent bacterial infections	115650	TNFRSF13C	OMIM:613494
HP:0002718	Recurrent bacterial infections	115650	TNFRSF13C	OMIM:240500
HP:0002718	Recurrent bacterial infections	4261	CIITA	OMIM:209920
HP:0002718	Recurrent bacterial infections	4261	CIITA	ORPHA:572
HP:0002718	Recurrent bacterial infections	975	CD81	OMIM:613496
HP:0002718	Recurrent bacterial infections	5295	PIK3R1	OMIM:616005
HP:0002718	Recurrent bacterial infections	4860	PNP	OMIM:613179
HP:0002718	Recurrent bacterial infections	5238	PGM3	ORPHA:443811
HP:0002718	Recurrent bacterial infections	83706	FERMT3	OMIM:612840
HP:0002718	Recurrent bacterial infections	22806	IKZF3	OMIM:619437
HP:0002718	Recurrent bacterial infections	118429	ANTXR2	ORPHA:2176
HP:0002718	Recurrent bacterial infections	718	C3	OMIM:613779
HP:0002718	Recurrent bacterial infections	6789	STK4	OMIM:614868
HP:0002718	Recurrent bacterial infections	1776	DNASE1L3	ORPHA:36412
HP:0002718	Recurrent bacterial infections	51135	IRAK4	ORPHA:70592
HP:0002718	Recurrent bacterial infections	959	CD40LG	OMIM:308230
HP:0002718	Recurrent bacterial infections	5293	PIK3CD	ORPHA:221139
HP:0002718	Recurrent bacterial infections	90417	KNSTRN	ORPHA:221139
HP:0002718	Recurrent bacterial infections	2542	SLC37A4	OMIM:232220
HP:0002718	Recurrent bacterial infections	2542	SLC37A4	ORPHA:79259
HP:0002718	Recurrent bacterial infections	5896	RAG1	OMIM:603554
HP:0002718	Recurrent bacterial infections	5896	RAG1	ORPHA:331206
HP:0002718	Recurrent bacterial infections	5897	RAG2	OMIM:603554
HP:0002718	Recurrent bacterial infections	5897	RAG2	ORPHA:331206
HP:0002718	Recurrent bacterial infections	3507	IGHM	OMIM:601495
HP:0002718	Recurrent bacterial infections	3075	CFH	OMIM:609814
HP:0002718	Recurrent bacterial infections	57379	AICDA	OMIM:605258
HP:0002718	Recurrent bacterial infections	974	CD79B	OMIM:612692
HP:0002718	Recurrent bacterial infections	629	CFB	OMIM:615561
HP:0002718	Recurrent bacterial infections	973	CD79A	OMIM:613501
HP:0002718	Recurrent bacterial infections	3543	IGLL1	OMIM:613500
HP:0002718	Recurrent bacterial infections	8456	FOXN1	ORPHA:83471
HP:0002718	Recurrent bacterial infections	55072	RNF31	OMIM:620632
HP:0002718	Recurrent bacterial infections	29760	BLNK	OMIM:613502
HP:0002718	Recurrent bacterial infections	79840	NHEJ1	ORPHA:169079
HP:0002718	Recurrent bacterial infections	134218	DNAJC21	ORPHA:811
HP:0002718	Recurrent bacterial infections	79631	EFL1	ORPHA:811
HP:0002718	Recurrent bacterial infections	51119	SBDS	ORPHA:811
HP:0002718	Recurrent bacterial infections	29851	ICOS	OMIM:607594
HP:0002718	Recurrent bacterial infections	29851	ICOS	OMIM:240500
HP:0002718	Recurrent bacterial infections	925	CD8A	OMIM:608957
HP:0002718	Recurrent bacterial infections	10559	SLC35A1	OMIM:603585
HP:0002718	Recurrent bacterial infections	57724	EPG5	OMIM:242840
HP:0002718	Recurrent bacterial infections	5994	RFXAP	ORPHA:572
HP:0002718	Recurrent bacterial infections	5993	RFX5	ORPHA:572
HP:0002718	Recurrent bacterial infections	8625	RFXANK	ORPHA:572
HP:0002718	Recurrent bacterial infections	5873	RAB27A	OMIM:607624
HP:0002718	Recurrent bacterial infections	51360	MBTPS2	ORPHA:2273
HP:0002718	Recurrent bacterial infections	3043	HBB	OMIM:603903
HP:0002718	Recurrent bacterial infections	23495	TNFRSF13B	OMIM:240500
HP:0002718	Recurrent bacterial infections	1380	CR2	OMIM:240500
HP:0002718	Recurrent bacterial infections	51371	POMP	OMIM:618048
HP:0002718	Recurrent bacterial infections	537	ATP6AP1	OMIM:300972
HP:0002718	Recurrent bacterial infections	4125	MAN2B1	OMIM:248500
HP:0002718	Recurrent bacterial infections	7922	SLC39A7	OMIM:619693
HP:0002718	Recurrent bacterial infections	50619	DEF6	OMIM:619573
HP:0002718	Recurrent bacterial infections	6603	SMARCD2	OMIM:617475
HP:0002718	Recurrent bacterial infections	84522	JAGN1	OMIM:616022
HP:0002718	Recurrent bacterial infections	100	ADA	OMIM:102700
HP:0002718	Recurrent bacterial infections	7852	CXCR4	OMIM:193670
HP:0002718	Recurrent bacterial infections	7852	CXCR4	ORPHA:51636
HP:0002718	Recurrent bacterial infections	9020	MAP3K14	OMIM:620449
HP:0002718	Recurrent bacterial infections	10616	RBCK1	OMIM:615895
HP:0002718	Recurrent bacterial infections	92579	G6PC3	OMIM:612541
HP:0002718	Recurrent bacterial infections	6786	STIM1	OMIM:612783
HP:0002718	Recurrent bacterial infections	1675	CFD	OMIM:613912
HP:0002718	Recurrent bacterial infections	695	BTK	OMIM:307200
HP:0002718	Recurrent bacterial infections	10092	ARPC5	OMIM:620565
HP:0002718	Recurrent bacterial infections	3514	IGKC	ORPHA:183675
HP:0002718	Recurrent bacterial infections	3501	IGHG2	ORPHA:183675
HP:0002718	Recurrent bacterial infections	8546	AP3B1	OMIM:608233
HP:0002718	Recurrent bacterial infections	1130	LYST	ORPHA:167
HP:0002718	Recurrent bacterial infections	10312	TCIRG1	ORPHA:486
HP:0002718	Recurrent bacterial infections	6728	SRP19	ORPHA:486
HP:0002718	Recurrent bacterial infections	1991	ELANE	ORPHA:486
HP:0002718	Recurrent bacterial infections	1991	ELANE	OMIM:202700
HP:0002718	Recurrent bacterial infections	2672	GFI1	ORPHA:486
HP:0002718	Recurrent bacterial infections	81570	CLPB	ORPHA:486
HP:0002718	Recurrent bacterial infections	81704	DOCK8	OMIM:243700
HP:0002718	Recurrent bacterial infections	7374	UNG	OMIM:608106
HP:0002718	Recurrent bacterial infections	958	CD40	OMIM:606843
HP:0002718	Recurrent bacterial infections	1053	CEBPE	OMIM:245480
HP:0002718	Recurrent bacterial infections	10892	MALT1	OMIM:615468
HP:0002718	Recurrent bacterial infections	10320	IKZF1	OMIM:616873
HP:0002718	Recurrent bacterial infections	7535	ZAP70	ORPHA:911
HP:0002718	Recurrent bacterial infections	4792	NFKBIA	ORPHA:98813
HP:0002718	Recurrent bacterial infections	3559	IL2RA	OMIM:606367
HP:0002718	Recurrent bacterial infections	10456	HAX1	OMIM:610738
HP:0002718	Recurrent bacterial infections	4914	NTRK1	ORPHA:642
HP:0002718	Recurrent bacterial infections	8547	FCN3	OMIM:613860
HP:0002718	Recurrent bacterial infections	4153	MBL2	OMIM:614372
HP:0002718	Recurrent bacterial infections	6804	STX1A	ORPHA:586
HP:0002718	Recurrent bacterial infections	2947	GSTM3	ORPHA:586
HP:0002718	Recurrent bacterial infections	7040	TGFB1	ORPHA:586
HP:0002718	Recurrent bacterial infections	2729	GCLC	ORPHA:586
HP:0002718	Recurrent bacterial infections	1084	CEACAM3	ORPHA:586
HP:0002718	Recurrent bacterial infections	6556	SLC11A1	ORPHA:586
HP:0002718	Recurrent bacterial infections	51164	DCTN4	ORPHA:586
HP:0002718	Recurrent bacterial infections	3783	KCNN4	ORPHA:586
HP:0002718	Recurrent bacterial infections	4282	MIF	ORPHA:586
HP:0002718	Recurrent bacterial infections	1909	EDNRA	ORPHA:586
HP:0002718	Recurrent bacterial infections	6550	SLC9A3	ORPHA:586
HP:0002718	Recurrent bacterial infections	3162	HMOX1	ORPHA:586
HP:0002718	Recurrent bacterial infections	115019	SLC26A9	ORPHA:586
HP:0002718	Recurrent bacterial infections	3077	HFE	ORPHA:586
HP:0002718	Recurrent bacterial infections	11254	SLC6A14	ORPHA:586
HP:0002718	Recurrent bacterial infections	5265	SERPINA1	ORPHA:586
HP:0002718	Recurrent bacterial infections	1080	CFTR	ORPHA:586
HP:0002718	Recurrent bacterial infections	22802	CLCA4	ORPHA:586
HP:0002718	Recurrent bacterial infections	4680	CEACAM6	ORPHA:586
HP:0002718	Recurrent bacterial infections	3426	CFI	OMIM:610984
HP:0002718	Recurrent bacterial infections	6340	SCNN1G	ORPHA:60033
HP:0002718	Recurrent bacterial infections	6337	SCNN1A	ORPHA:60033
HP:0002718	Recurrent bacterial infections	6338	SCNN1B	ORPHA:60033
HP:0002718	Recurrent bacterial infections	729	C6	OMIM:612446
HP:0002718	Recurrent bacterial infections	10804	GJB6	ORPHA:477
HP:0002718	Recurrent bacterial infections	2706	GJB2	ORPHA:477
HP:0002718	Recurrent bacterial infections	2706	GJB2	OMIM:148210
HP:0002718	Recurrent bacterial infections	1536	CYBB	OMIM:306400
HP:0002718	Recurrent bacterial infections	1075	CTSC	OMIM:245010
HP:0002718	Recurrent bacterial infections	4688	NCF2	OMIM:233710
HP:0002718	Recurrent bacterial infections	653361	NCF1	OMIM:233700
HP:0002718	Recurrent bacterial infections	1535	CYBA	OMIM:233690
HP:0002718	Recurrent bacterial infections	7390	UROS	ORPHA:79277
HP:0002718	Recurrent bacterial infections	2623	GATA1	ORPHA:79277
HP:0002718	Recurrent bacterial infections	2050	EPHB4	ORPHA:90186
HP:0002718	Recurrent bacterial infections	6868	ADAM17	ORPHA:294023
HP:0002718	Recurrent bacterial infections	1956	EGFR	ORPHA:294023
HP:0002718	Recurrent bacterial infections	7389	UROD	ORPHA:95159
HP:0002718	Recurrent bacterial infections	2859	GPR35	ORPHA:171
HP:0002718	Recurrent bacterial infections	10507	SEMA4D	ORPHA:171
HP:0002718	Recurrent bacterial infections	4485	MST1	ORPHA:171
HP:0002718	Recurrent bacterial infections	6925	TCF4	ORPHA:171
HP:0002718	Recurrent bacterial infections	730	C7	OMIM:610102
HP:0002718	Recurrent bacterial infections	732	C8B	OMIM:613789
HP:0002718	Recurrent bacterial infections	727	C5	OMIM:609536
HP:0002718	Recurrent bacterial infections	90268	OTULIN	OMIM:619986
HP:0002718	Recurrent bacterial infections	23765	IL17RA	OMIM:613953
HP:0002718	Recurrent bacterial infections	55851	PSENEN	OMIM:613736
HP:0002718	Recurrent bacterial infections	5663	PSEN1	OMIM:613737
HP:0002718	Recurrent bacterial infections	25981	DNAH1	ORPHA:244
HP:0002718	Recurrent bacterial infections	115948	ODAD3	ORPHA:244
HP:0002718	Recurrent bacterial infections	54768	HYDIN	ORPHA:244
HP:0002718	Recurrent bacterial infections	352909	DNAAF3	ORPHA:244
HP:0002718	Recurrent bacterial infections	27148	STK36	ORPHA:244
HP:0002718	Recurrent bacterial infections	51314	NME8	ORPHA:244
HP:0002718	Recurrent bacterial infections	92749	DRC1	ORPHA:244
HP:0002718	Recurrent bacterial infections	54970	TTC12	ORPHA:244
HP:0002718	Recurrent bacterial infections	152110	NEK10	ORPHA:244
HP:0002718	Recurrent bacterial infections	8481	OFD1	ORPHA:244
HP:0002718	Recurrent bacterial infections	2302	FOXJ1	ORPHA:244
HP:0002718	Recurrent bacterial infections	221421	RSPH9	ORPHA:244
HP:0002718	Recurrent bacterial infections	85478	CCDC65	ORPHA:244
HP:0002718	Recurrent bacterial infections	55036	CCDC40	ORPHA:244
HP:0002718	Recurrent bacterial infections	51364	ZMYND10	ORPHA:244
HP:0002718	Recurrent bacterial infections	64446	DNAI2	ORPHA:244
HP:0002718	Recurrent bacterial infections	8382	NME5	ORPHA:244
HP:0002718	Recurrent bacterial infections	6674	SPAG1	ORPHA:244
HP:0002718	Recurrent bacterial infections	83544	DNAL1	ORPHA:244
HP:0002718	Recurrent bacterial infections	89765	RSPH1	ORPHA:244
HP:0002718	Recurrent bacterial infections	83538	ODAD4	ORPHA:244
HP:0002718	Recurrent bacterial infections	200373	CFAP221	ORPHA:244
HP:0002718	Recurrent bacterial infections	374407	DNAJB13	ORPHA:244
HP:0002718	Recurrent bacterial infections	55172	DNAAF2	ORPHA:244
HP:0002718	Recurrent bacterial infections	161582	DNAAF4	ORPHA:244
HP:0002718	Recurrent bacterial infections	2622	GAS8	ORPHA:244
HP:0002718	Recurrent bacterial infections	23639	DNAAF11	ORPHA:244
HP:0002718	Recurrent bacterial infections	27019	DNAI1	ORPHA:244
HP:0002718	Recurrent bacterial infections	345895	RSPH4A	ORPHA:244
HP:0002718	Recurrent bacterial infections	54919	DNAAF5	ORPHA:244
HP:0002718	Recurrent bacterial infections	6103	RPGR	ORPHA:244
HP:0002718	Recurrent bacterial infections	85452	CFAP74	ORPHA:244
HP:0002718	Recurrent bacterial infections	93233	ODAD1	ORPHA:244
HP:0002718	Recurrent bacterial infections	55130	ODAD2	ORPHA:244
HP:0002718	Recurrent bacterial infections	1767	DNAH5	ORPHA:244
HP:0002718	Recurrent bacterial infections	83861	RSPH3	ORPHA:244
HP:0002718	Recurrent bacterial infections	345643	MCIDAS	ORPHA:244
HP:0002718	Recurrent bacterial infections	56683	CFAP298	ORPHA:244
HP:0002718	Recurrent bacterial infections	79925	SPEF2	ORPHA:244
HP:0002718	Recurrent bacterial infections	10309	CCNO	ORPHA:244
HP:0002718	Recurrent bacterial infections	115399	LRRC56	ORPHA:244
HP:0002718	Recurrent bacterial infections	139212	DNAAF6	ORPHA:244
HP:0002718	Recurrent bacterial infections	123872	DNAAF1	ORPHA:244
HP:0002718	Recurrent bacterial infections	85016	CFAP300	ORPHA:244
HP:0002718	Recurrent bacterial infections	339829	CCDC39	ORPHA:244
HP:0002718	Recurrent bacterial infections	8701	DNAH11	ORPHA:244
HP:0002718	Recurrent bacterial infections	1770	DNAH9	ORPHA:244
HP:0002718	Recurrent bacterial infections	246176	GAS2L2	ORPHA:244
HP:0002718	Recurrent bacterial infections	3594	IL12RB1	OMIM:614891
HP:0002718	Recurrent bacterial infections	3594	IL12RB1	ORPHA:319552
HP:0002718	Recurrent bacterial infections	6772	STAT1	OMIM:613796
HP:0002718	Recurrent bacterial infections	9636	ISG15	OMIM:616126
HP:0002718	Recurrent bacterial infections	7297	TYK2	OMIM:611521
HP:0002718	Recurrent bacterial infections	3459	IFNGR1	OMIM:615978
HP:0002718	Recurrent bacterial infections	3460	IFNGR2	OMIM:614889
HP:0002718	Recurrent bacterial infections	3659	IRF1	OMIM:620668
HP:0002718	Recurrent bacterial infections	2624	GATA2	OMIM:614172
HP:0002718	Recurrent bacterial infections	6774	STAT3	OMIM:147060
HP:0002718	Recurrent bacterial infections	146206	CARMIL2	OMIM:618131
HP:0002718	Recurrent bacterial infections	3937	LCP2	OMIM:619374
HP:0002718	Recurrent bacterial infections	29927	SEC61A1	OMIM:617056
HP:0002718	Recurrent bacterial infections	7319	UBE2A	ORPHA:163956
HP:0002719	Recurrent infections	23394	ADNP	ORPHA:404448
HP:0002719	Recurrent infections	23394	ADNP	OMIM:615873
HP:0002719	Recurrent infections	9860	LRIG2	OMIM:615112
HP:0002719	Recurrent infections	9860	LRIG2	ORPHA:2704
HP:0002719	Recurrent infections	4683	NBN	OMIM:251260
HP:0002719	Recurrent infections	3426	CFI	OMIM:610984
HP:0002719	Recurrent infections	1131	CHRM3	ORPHA:2970
HP:0002719	Recurrent infections	3909	LAMA3	ORPHA:79404
HP:0002719	Recurrent infections	3918	LAMC2	ORPHA:79404
HP:0002719	Recurrent infections	3914	LAMB3	ORPHA:79404
HP:0002719	Recurrent infections	6519	SLC3A1	OMIM:220100
HP:0002719	Recurrent infections	11136	SLC7A9	OMIM:220100
HP:0002719	Recurrent infections	3106	HLA-B	ORPHA:29207
HP:0002719	Recurrent infections	1387	CREBBP	ORPHA:353281
HP:0002719	Recurrent infections	1387	CREBBP	ORPHA:353277
HP:0002719	Recurrent infections	9578	CDC42BPB	OMIM:619841
HP:0002719	Recurrent infections	613	BCR	ORPHA:261330
HP:0002719	Recurrent infections	1399	CRKL	ORPHA:261330
HP:0002719	Recurrent infections	5594	MAPK1	ORPHA:261330
HP:0002719	Recurrent infections	3313	HSPA9	OMIM:616854
HP:0002719	Recurrent infections	10686	CLDN16	OMIM:248250
HP:0002719	Recurrent infections	2033	EP300	ORPHA:353284
HP:0002719	Recurrent infections	6595	SMARCA2	OMIM:619293
HP:0002719	Recurrent infections	51726	DNAJB11	ORPHA:730
HP:0002719	Recurrent infections	23193	GANAB	ORPHA:730
HP:0002719	Recurrent infections	5310	PKD1	ORPHA:730
HP:0002719	Recurrent infections	5311	PKD2	ORPHA:730
HP:0002719	Recurrent infections	5311	PKD2	OMIM:613095
HP:0002719	Recurrent infections	29880	ALG5	ORPHA:730
HP:0002719	Recurrent infections	9742	IFT140	ORPHA:730
HP:0002719	Recurrent infections	79796	ALG9	ORPHA:730
HP:0002719	Recurrent infections	80114	BICC1	ORPHA:730
HP:0002719	Recurrent infections	81693	AMN	OMIM:618882
HP:0002719	Recurrent infections	284058	KANSL1	ORPHA:363958
HP:0002719	Recurrent infections	284058	KANSL1	ORPHA:363965
HP:0002719	Recurrent infections	284058	KANSL1	OMIM:610443
HP:0002719	Recurrent infections	54496	PRMT7	OMIM:617157
HP:0002719	Recurrent infections	1136	CHRNA3	OMIM:191800
HP:0002719	Recurrent infections	92579	G6PC3	OMIM:612541
HP:0002719	Recurrent infections	284252	KCTD1	ORPHA:2036
HP:0002719	Recurrent infections	2019	EN1	OMIM:619218
HP:0002719	Recurrent infections	672	BRCA1	ORPHA:84
HP:0002719	Recurrent infections	10459	MAD2L2	ORPHA:84
HP:0002719	Recurrent infections	7516	XRCC2	ORPHA:84
HP:0002719	Recurrent infections	29089	UBE2T	ORPHA:84
HP:0002719	Recurrent infections	675	BRCA2	ORPHA:84
HP:0002719	Recurrent infections	55120	FANCL	ORPHA:84
HP:0002719	Recurrent infections	2177	FANCD2	ORPHA:84
HP:0002719	Recurrent infections	2175	FANCA	ORPHA:84
HP:0002719	Recurrent infections	2187	FANCB	ORPHA:84
HP:0002719	Recurrent infections	2176	FANCC	ORPHA:84
HP:0002719	Recurrent infections	2178	FANCE	ORPHA:84
HP:0002719	Recurrent infections	2188	FANCF	ORPHA:84
HP:0002719	Recurrent infections	2189	FANCG	ORPHA:84
HP:0002719	Recurrent infections	5888	RAD51	ORPHA:84
HP:0002719	Recurrent infections	5889	RAD51C	ORPHA:84
HP:0002719	Recurrent infections	55159	RFWD3	ORPHA:84
HP:0002719	Recurrent infections	83990	BRIP1	ORPHA:84
HP:0002719	Recurrent infections	57697	FANCM	ORPHA:84
HP:0002719	Recurrent infections	79728	PALB2	ORPHA:84
HP:0002719	Recurrent infections	84464	SLX4	ORPHA:84
HP:0002719	Recurrent infections	2072	ERCC4	ORPHA:84
HP:0002719	Recurrent infections	55215	FANCI	ORPHA:84
HP:0002719	Recurrent infections	546	ATRX	ORPHA:847
HP:0002719	Recurrent infections	8626	TP63	ORPHA:93930
HP:0002719	Recurrent infections	3670	ISL1	ORPHA:93930
HP:0002719	Recurrent infections	3209	HOXA13	ORPHA:2438
HP:0002719	Recurrent infections	4478	MSN	OMIM:300988
HP:0002719	Recurrent infections	10524	KAT5	OMIM:619103
HP:0002719	Recurrent infections	3560	IL2RB	OMIM:618495
HP:0002719	Recurrent infections	149461	CLDN19	OMIM:248190
HP:0002719	Recurrent infections	60495	HPSE2	ORPHA:2704
HP:0002719	Recurrent infections	60495	HPSE2	OMIM:236730
HP:0002719	Recurrent infections	6304	SATB1	OMIM:619229
HP:0002719	Recurrent infections	8883	NAE1	OMIM:620210
HP:0002719	Recurrent infections	28982	FLVCR1	OMIM:609033
HP:0002719	Recurrent infections	7840	ALMS1	ORPHA:64
HP:0002719	Recurrent infections	538	ATP7A	ORPHA:198
HP:0002719	Recurrent infections	84265	POLR3GL	OMIM:619234
HP:0002719	Recurrent infections	54809	SAMD9	OMIM:617053
HP:0002719	Recurrent infections	54914	FOCAD	OMIM:619991
HP:0002719	Recurrent infections	4261	CIITA	OMIM:209920
HP:0002719	Recurrent infections	6804	STX1A	ORPHA:904
HP:0002719	Recurrent infections	7461	CLIP2	ORPHA:904
HP:0002719	Recurrent infections	84277	DNAJC30	ORPHA:904
HP:0002719	Recurrent infections	8468	FKBP6	ORPHA:904
HP:0002719	Recurrent infections	5982	RFC2	ORPHA:904
HP:0002719	Recurrent infections	2969	GTF2I	ORPHA:904
HP:0002719	Recurrent infections	3984	LIMK1	ORPHA:904
HP:0002719	Recurrent infections	9569	GTF2IRD1	ORPHA:904
HP:0002719	Recurrent infections	155382	VPS37D	ORPHA:904
HP:0002719	Recurrent infections	155368	METTL27	ORPHA:904
HP:0002719	Recurrent infections	114049	BUD23	ORPHA:904
HP:0002719	Recurrent infections	7458	EIF4H	ORPHA:904
HP:0002719	Recurrent infections	84163	GTF2IRD2	ORPHA:904
HP:0002719	Recurrent infections	26608	TBL2	ORPHA:904
HP:0002719	Recurrent infections	653361	NCF1	ORPHA:904
HP:0002719	Recurrent infections	135886	TMEM270	ORPHA:904
HP:0002719	Recurrent infections	9031	BAZ1B	ORPHA:904
HP:0002719	Recurrent infections	2006	ELN	ORPHA:904
HP:0002719	Recurrent infections	2006	ELN	OMIM:194050
HP:0002719	Recurrent infections	54796	BNC2	ORPHA:93110
HP:0002719	Recurrent infections	10056	FARSB	OMIM:613658
HP:0002719	Recurrent infections	493856	CISD2	ORPHA:3463
HP:0002719	Recurrent infections	7466	WFS1	ORPHA:3463
HP:0002719	Recurrent infections	9380	GRHPR	ORPHA:93599
HP:0002719	Recurrent infections	5293	PIK3CD	ORPHA:221139
HP:0002719	Recurrent infections	90417	KNSTRN	ORPHA:221139
HP:0002719	Recurrent infections	8936	WASF1	OMIM:618707
HP:0002719	Recurrent infections	189	AGXT	ORPHA:93598
HP:0002719	Recurrent infections	2131	EXT1	ORPHA:502
HP:0002719	Recurrent infections	5885	RAD21	ORPHA:502
HP:0002719	Recurrent infections	7227	TRPS1	ORPHA:502
HP:0002719	Recurrent infections	79228	THOC6	ORPHA:363444
HP:0002719	Recurrent infections	79228	THOC6	OMIM:613680
HP:0002719	Recurrent infections	100147744	RNU7-1	OMIM:619487
HP:0002719	Recurrent infections	5971	RELB	OMIM:617585
HP:0002719	Recurrent infections	79803	HPS6	OMIM:614075
HP:0002719	Recurrent infections	10398	MYL9	OMIM:619365
HP:0002719	Recurrent infections	10293	TRAIP	OMIM:616777
HP:0002719	Recurrent infections	7148	TNXB	OMIM:615963
HP:0002719	Recurrent infections	3110	MNX1	ORPHA:1552
HP:0002719	Recurrent infections	3110	MNX1	OMIM:176450
HP:0002719	Recurrent infections	9562	MINPP1	OMIM:619527
HP:0002719	Recurrent infections	5294	PIK3CG	OMIM:619802
HP:0002719	Recurrent infections	51085	MLXIPL	OMIM:194050
HP:0002719	Recurrent infections	11128	POLR3A	ORPHA:3455
HP:0002719	Recurrent infections	199221	DZIP1L	ORPHA:731
HP:0002719	Recurrent infections	5314	PKHD1	ORPHA:731
HP:0002719	Recurrent infections	353	APRT	ORPHA:976
HP:0002719	Recurrent infections	9968	MED12	OMIM:301068
HP:0002719	Recurrent infections	403	ARL3	OMIM:618161
HP:0002719	Recurrent infections	6524	SLC5A2	ORPHA:69076
HP:0002719	Recurrent infections	7994	KAT6A	OMIM:616268
HP:0002719	Recurrent infections	64321	SOX17	OMIM:613674
HP:0002719	Recurrent infections	4052	LTBP1	ORPHA:90349
HP:0002719	Recurrent infections	30008	EFEMP2	ORPHA:90349
HP:0002719	Recurrent infections	10516	FBLN5	ORPHA:90349
HP:0002719	Recurrent infections	2303	FOXC2	ORPHA:33001
HP:0002719	Recurrent infections	29110	TBK1	OMIM:620880
HP:0002719	Recurrent infections	1291	COL6A1	OMIM:158810
HP:0002719	Recurrent infections	4001	LMNB1	ORPHA:99027
HP:0002719	Recurrent infections	9898	UBAP2L	OMIM:620494
HP:0002719	Recurrent infections	100	ADA	ORPHA:277
HP:0002719	Recurrent infections	4791	NFKB2	ORPHA:293978
HP:0002719	Recurrent infections	4791	NFKB2	OMIM:615577
HP:0002719	Recurrent infections	2070	EYA4	ORPHA:217622
HP:0002719	Recurrent infections	5993	RFX5	OMIM:620816
HP:0002719	Recurrent infections	5994	RFXAP	OMIM:620817
HP:0002719	Recurrent infections	23308	ICOSLG	OMIM:620825
HP:0002719	Recurrent infections	5880	RAC2	OMIM:618986
HP:0002719	Recurrent infections	64682	ANAPC1	OMIM:618625
HP:0002719	Recurrent infections	7174	TPP2	ORPHA:444463
HP:0002719	Recurrent infections	7174	TPP2	OMIM:619220
HP:0002719	Recurrent infections	80232	WDR26	ORPHA:513456
HP:0002719	Recurrent infections	80232	WDR26	OMIM:617616
HP:0002719	Recurrent infections	89765	RSPH1	OMIM:615481
HP:0002719	Recurrent infections	89765	RSPH1	ORPHA:244
HP:0002719	Recurrent infections	161582	DNAAF4	OMIM:615482
HP:0002719	Recurrent infections	161582	DNAAF4	ORPHA:244
HP:0002719	Recurrent infections	57589	RIC1	ORPHA:199306
HP:0002719	Recurrent infections	5818	NECTIN1	ORPHA:199306
HP:0002719	Recurrent infections	1739	DLG1	ORPHA:199306
HP:0002719	Recurrent infections	999	CDH1	ORPHA:199306
HP:0002719	Recurrent infections	5156	PDGFRA	ORPHA:199306
HP:0002719	Recurrent infections	3664	IRF6	ORPHA:199306
HP:0002719	Recurrent infections	1748	DLX4	ORPHA:199306
HP:0002719	Recurrent infections	4487	MSX1	ORPHA:199306
HP:0002719	Recurrent infections	652	BMP4	ORPHA:199306
HP:0002719	Recurrent infections	22837	COBLL1	ORPHA:199306
HP:0002719	Recurrent infections	54848	ARHGEF38	ORPHA:199306
HP:0002719	Recurrent infections	9411	ARHGAP29	ORPHA:199306
HP:0002719	Recurrent infections	51111	KMT5B	OMIM:617788
HP:0002719	Recurrent infections	146845	CFAP52	OMIM:619607
HP:0002719	Recurrent infections	2314	FLII	ORPHA:819
HP:0002719	Recurrent infections	23096	IQSEC2	ORPHA:819
HP:0002719	Recurrent infections	10743	RAI1	ORPHA:819
HP:0002719	Recurrent infections	144568	A2ML1	OMIM:166760
HP:0002719	Recurrent infections	79158	GNPTAB	OMIM:252500
HP:0002719	Recurrent infections	79158	GNPTAB	ORPHA:423461
HP:0002719	Recurrent infections	8382	NME5	OMIM:620032
HP:0002719	Recurrent infections	8382	NME5	ORPHA:244
HP:0002719	Recurrent infections	1301	COL11A1	OMIM:154780
HP:0002719	Recurrent infections	56992	KIF15	ORPHA:261323
HP:0002719	Recurrent infections	7314	UBB	ORPHA:155878
HP:0002719	Recurrent infections	7314	UBB	ORPHA:99772
HP:0002719	Recurrent infections	57822	GRHL3	ORPHA:155878
HP:0002719	Recurrent infections	57822	GRHL3	ORPHA:99772
HP:0002719	Recurrent infections	115650	TNFRSF13C	OMIM:240500
HP:0002719	Recurrent infections	29851	ICOS	OMIM:240500
HP:0002719	Recurrent infections	29851	ICOS	OMIM:607594
HP:0002719	Recurrent infections	930	CD19	OMIM:240500
HP:0002719	Recurrent infections	930	CD19	OMIM:613493
HP:0002719	Recurrent infections	23495	TNFRSF13B	OMIM:240500
HP:0002719	Recurrent infections	123872	DNAAF1	OMIM:613193
HP:0002719	Recurrent infections	123872	DNAAF1	ORPHA:244
HP:0002719	Recurrent infections	25885	POLR1A	OMIM:616462
HP:0002719	Recurrent infections	3572	IL6ST	OMIM:618523
HP:0002719	Recurrent infections	8546	AP3B1	OMIM:608233
HP:0002719	Recurrent infections	28755	TRAC	OMIM:615387
HP:0002719	Recurrent infections	6885	MAP3K7	OMIM:157800
HP:0002719	Recurrent infections	2783	GNB2	OMIM:619503
HP:0002719	Recurrent infections	3425	IDUA	OMIM:607014
HP:0002719	Recurrent infections	2214	FCGR3A	OMIM:615707
HP:0002719	Recurrent infections	26834	RNU4-2	OMIM:620851
HP:0002719	Recurrent infections	8517	IKBKG	ORPHA:98813
HP:0002719	Recurrent infections	4792	NFKBIA	ORPHA:98813
HP:0002719	Recurrent infections	30011	SH3KBP1	OMIM:300310
HP:0002719	Recurrent infections	2261	FGFR3	OMIM:616482
HP:0002719	Recurrent infections	2261	FGFR3	OMIM:100800
HP:0002719	Recurrent infections	2261	FGFR3	OMIM:602849
HP:0002719	Recurrent infections	83861	RSPH3	OMIM:616481
HP:0002719	Recurrent infections	83861	RSPH3	ORPHA:244
HP:0002719	Recurrent infections	56006	SMG9	OMIM:619995
HP:0002719	Recurrent infections	54880	BCOR	OMIM:309800
HP:0002719	Recurrent infections	64446	DNAI2	OMIM:612444
HP:0002719	Recurrent infections	64446	DNAI2	ORPHA:244
HP:0002719	Recurrent infections	8364	H4C3	OMIM:619758
HP:0002719	Recurrent infections	54499	TMCO1	OMIM:213980
HP:0002719	Recurrent infections	8314	BAP1	OMIM:619762
HP:0002719	Recurrent infections	27086	FOXP1	ORPHA:391372
HP:0002719	Recurrent infections	4256	MGP	ORPHA:85202
HP:0002719	Recurrent infections	4256	MGP	OMIM:245150
HP:0002719	Recurrent infections	113179	ADAT3	OMIM:615286
HP:0002719	Recurrent infections	113179	ADAT3	ORPHA:363528
HP:0002719	Recurrent infections	54919	DNAAF5	OMIM:614874
HP:0002719	Recurrent infections	54919	DNAAF5	ORPHA:244
HP:0002719	Recurrent infections	2542	SLC37A4	OMIM:619525
HP:0002719	Recurrent infections	917	CD3G	OMIM:615607
HP:0002719	Recurrent infections	3373	HYAL1	OMIM:601492
HP:0002719	Recurrent infections	2535	FZD2	OMIM:164745
HP:0002719	Recurrent infections	7030	TFE3	OMIM:301066
HP:0002719	Recurrent infections	92749	DRC1	OMIM:615294
HP:0002719	Recurrent infections	92749	DRC1	ORPHA:244
HP:0002719	Recurrent infections	326	AIRE	OMIM:240300
HP:0002719	Recurrent infections	3423	IDS	OMIM:309900
HP:0002719	Recurrent infections	6603	SMARCD2	OMIM:617475
HP:0002719	Recurrent infections	84522	JAGN1	OMIM:616022
HP:0002719	Recurrent infections	3930	LBR	OMIM:169400
HP:0002719	Recurrent infections	246176	GAS2L2	OMIM:618449
HP:0002719	Recurrent infections	246176	GAS2L2	ORPHA:244
HP:0002719	Recurrent infections	25981	DNAH1	ORPHA:244
HP:0002719	Recurrent infections	115948	ODAD3	ORPHA:244
HP:0002719	Recurrent infections	115948	ODAD3	OMIM:616037
HP:0002719	Recurrent infections	54768	HYDIN	ORPHA:244
HP:0002719	Recurrent infections	54768	HYDIN	OMIM:608647
HP:0002719	Recurrent infections	352909	DNAAF3	ORPHA:244
HP:0002719	Recurrent infections	27148	STK36	ORPHA:244
HP:0002719	Recurrent infections	27148	STK36	OMIM:619436
HP:0002719	Recurrent infections	51314	NME8	ORPHA:244
HP:0002719	Recurrent infections	54970	TTC12	ORPHA:244
HP:0002719	Recurrent infections	152110	NEK10	ORPHA:244
HP:0002719	Recurrent infections	2302	FOXJ1	ORPHA:244
HP:0002719	Recurrent infections	221421	RSPH9	ORPHA:244
HP:0002719	Recurrent infections	85478	CCDC65	ORPHA:244
HP:0002719	Recurrent infections	85478	CCDC65	OMIM:615504
HP:0002719	Recurrent infections	55036	CCDC40	ORPHA:244
HP:0002719	Recurrent infections	55036	CCDC40	OMIM:613808
HP:0002719	Recurrent infections	51364	ZMYND10	ORPHA:244
HP:0002719	Recurrent infections	51364	ZMYND10	OMIM:615444
HP:0002719	Recurrent infections	6674	SPAG1	ORPHA:244
HP:0002719	Recurrent infections	6674	SPAG1	OMIM:615505
HP:0002719	Recurrent infections	83544	DNAL1	ORPHA:244
HP:0002719	Recurrent infections	83538	ODAD4	ORPHA:244
HP:0002719	Recurrent infections	200373	CFAP221	ORPHA:244
HP:0002719	Recurrent infections	374407	DNAJB13	ORPHA:244
HP:0002719	Recurrent infections	55172	DNAAF2	ORPHA:244
HP:0002719	Recurrent infections	2622	GAS8	ORPHA:244
HP:0002719	Recurrent infections	2622	GAS8	OMIM:616726
HP:0002719	Recurrent infections	23639	DNAAF11	ORPHA:244
HP:0002719	Recurrent infections	23639	DNAAF11	OMIM:614935
HP:0002719	Recurrent infections	27019	DNAI1	ORPHA:244
HP:0002719	Recurrent infections	345895	RSPH4A	ORPHA:244
HP:0002719	Recurrent infections	6103	RPGR	ORPHA:244
HP:0002719	Recurrent infections	85452	CFAP74	ORPHA:244
HP:0002719	Recurrent infections	93233	ODAD1	ORPHA:244
HP:0002719	Recurrent infections	93233	ODAD1	OMIM:615067
HP:0002719	Recurrent infections	55130	ODAD2	ORPHA:244
HP:0002719	Recurrent infections	55130	ODAD2	OMIM:615451
HP:0002719	Recurrent infections	1767	DNAH5	ORPHA:244
HP:0002719	Recurrent infections	1767	DNAH5	OMIM:608644
HP:0002719	Recurrent infections	345643	MCIDAS	ORPHA:244
HP:0002719	Recurrent infections	56683	CFAP298	ORPHA:244
HP:0002719	Recurrent infections	56683	CFAP298	OMIM:615500
HP:0002719	Recurrent infections	79925	SPEF2	ORPHA:244
HP:0002719	Recurrent infections	10309	CCNO	ORPHA:244
HP:0002719	Recurrent infections	115399	LRRC56	ORPHA:244
HP:0002719	Recurrent infections	115399	LRRC56	OMIM:618254
HP:0002719	Recurrent infections	139212	DNAAF6	ORPHA:244
HP:0002719	Recurrent infections	85016	CFAP300	ORPHA:244
HP:0002719	Recurrent infections	339829	CCDC39	ORPHA:244
HP:0002719	Recurrent infections	8701	DNAH11	ORPHA:244
HP:0002719	Recurrent infections	8701	DNAH11	OMIM:611884
HP:0002719	Recurrent infections	1770	DNAH9	ORPHA:244
HP:0002719	Recurrent infections	81704	DOCK8	OMIM:243700
HP:0002719	Recurrent infections	2742	GLRA2	OMIM:301076
HP:0002719	Recurrent infections	55023	PHIP	ORPHA:589905
HP:0002719	Recurrent infections	29072	SETD2	OMIM:616831
HP:0002719	Recurrent infections	7068	THRB	ORPHA:566243
HP:0002719	Recurrent infections	1642	DDB1	OMIM:619426
HP:0002719	Recurrent infections	5908	RAP1B	OMIM:620654
HP:0002719	Recurrent infections	388015	RTL1	ORPHA:254531
HP:0002719	Recurrent infections	388015	RTL1	ORPHA:96184
HP:0002719	Recurrent infections	8788	DLK1	ORPHA:254531
HP:0002719	Recurrent infections	8788	DLK1	ORPHA:96184
HP:0002719	Recurrent infections	55384	MEG3	ORPHA:254531
HP:0002719	Recurrent infections	55384	MEG3	ORPHA:96184
HP:0002719	Recurrent infections	10806	SDCCAG8	OMIM:615993
HP:0002719	Recurrent infections	100151683	RNU4ATAC	ORPHA:353298
HP:0002719	Recurrent infections	100151683	RNU4ATAC	OMIM:616651
HP:0002719	Recurrent infections	9094	UNC119	OMIM:615518
HP:0002719	Recurrent infections	79650	USB1	OMIM:604173
HP:0002719	Recurrent infections	5575	PRKAR1B	OMIM:619680
HP:0002719	Recurrent infections	10847	SRCAP	OMIM:136140
HP:0002719	Recurrent infections	3718	JAK3	OMIM:600802
HP:0002719	Recurrent infections	11151	CORO1A	OMIM:615401
HP:0002719	Recurrent infections	388389	DNAAF19	OMIM:614679
HP:0002719	Recurrent infections	868	CBLB	OMIM:620430
HP:0002719	Recurrent infections	4297	KMT2A	OMIM:605130
HP:0002719	Recurrent infections	57551	TAOK1	OMIM:619575
HP:0002719	Recurrent infections	84061	MAGT1	OMIM:300853
HP:0002719	Recurrent infections	2332	FMR1	ORPHA:449291
HP:0002719	Recurrent infections	713	C1QB	OMIM:620321
HP:0002719	Recurrent infections	6045	RNF2	OMIM:619460
HP:0002719	Recurrent infections	1280	COL2A1	OMIM:156550
HP:0002719	Recurrent infections	1053	CEBPE	OMIM:245480
HP:0002719	Recurrent infections	5718	PSMD12	ORPHA:529962
HP:0002719	Recurrent infections	2186	BPTF	ORPHA:529962
HP:0002719	Recurrent infections	1822	ATN1	OMIM:618494
HP:0002719	Recurrent infections	6874	TAF4	OMIM:620450
HP:0002719	Recurrent infections	164781	DAW1	OMIM:620570
HP:0002719	Recurrent infections	7454	WAS	OMIM:301000
HP:0002719	Recurrent infections	55329	MNS1	OMIM:618948
HP:0002719	Recurrent infections	940	CD28	OMIM:620901
HP:0002719	Recurrent infections	920	CD4	OMIM:619238
HP:0002719	Recurrent infections	5336	PLCG2	OMIM:614468
HP:0002719	Recurrent infections	3570	IL6R	OMIM:618944
HP:0002719	Recurrent infections	23112	TNRC6B	OMIM:619243
HP:0002719	Recurrent infections	2799	GNS	OMIM:252940
HP:0002719	Recurrent infections	10551	AGR2	OMIM:620233
HP:0002719	Recurrent infections	83844	USP26	OMIM:301101
HP:0002719	Recurrent infections	139818	DOCK11	OMIM:301109
HP:0002719	Recurrent infections	5879	RAC1	OMIM:617751
HP:0002719	Recurrent infections	5879	RAC1	ORPHA:500159
HP:0002719	Recurrent infections	2990	GUSB	OMIM:253220
HP:0002719	Recurrent infections	5236	PGM1	OMIM:614921
HP:0002719	Recurrent infections	341208	HEPHL1	OMIM:261990
HP:0002719	Recurrent infections	721	C4B	OMIM:614379
HP:0002719	Recurrent infections	1794	DOCK2	OMIM:616433
HP:0002719	Recurrent infections	6736	SRY	ORPHA:1772
HP:0002719	Recurrent infections	5130	PCYT1A	OMIM:608940
HP:0002719	Recurrent infections	5696	PSMB8	OMIM:256040
HP:0002719	Recurrent infections	3587	IL10RA	OMIM:613148
HP:0002719	Recurrent infections	5393	EXOSC9	OMIM:618065
HP:0002719	Recurrent infections	8518	ELP1	ORPHA:1764
HP:0002719	Recurrent infections	10054	UBA2	OMIM:619959
HP:0002719	Recurrent infections	7360	UGP2	OMIM:618744
HP:0002719	Recurrent infections	128178	EDARADD	OMIM:614941
HP:0002719	Recurrent infections	79848	CSPP1	ORPHA:397715
HP:0002719	Recurrent infections	9786	KIAA0586	ORPHA:397715
HP:0002719	Recurrent infections	5354	PLP1	ORPHA:99015
HP:0002719	Recurrent infections	249	ALPL	OMIM:241500
HP:0002719	Recurrent infections	51506	UFC1	OMIM:618076
HP:0002719	Recurrent infections	283489	CHAMP1	OMIM:616579
HP:0002719	Recurrent infections	65082	VPS33A	OMIM:617303
HP:0002719	Recurrent infections	65082	VPS33A	ORPHA:505248
HP:0002719	Recurrent infections	25782	RAB3GAP2	OMIM:212720
HP:0002719	Recurrent infections	55768	NGLY1	ORPHA:404454
HP:0002719	Recurrent infections	55768	NGLY1	OMIM:615273
HP:0002719	Recurrent infections	1536	CYBB	ORPHA:379
HP:0002719	Recurrent infections	1535	CYBA	ORPHA:379
HP:0002719	Recurrent infections	7535	ZAP70	OMIM:269840
HP:0002719	Recurrent infections	6261	RYR1	OMIM:255320
HP:0002719	Recurrent infections	6261	RYR1	ORPHA:424107
HP:0002719	Recurrent infections	6261	RYR1	ORPHA:98905
HP:0002719	Recurrent infections	9326	ZNHIT3	ORPHA:2836
HP:0002719	Recurrent infections	64359	NXN	ORPHA:1507
HP:0002719	Recurrent infections	4920	ROR2	ORPHA:1507
HP:0002719	Recurrent infections	7080	NKX2-1	ORPHA:209905
HP:0002719	Recurrent infections	7080	NKX2-1	OMIM:610978
HP:0002719	Recurrent infections	5896	RAG1	OMIM:233650
HP:0002719	Recurrent infections	5897	RAG2	OMIM:233650
HP:0002719	Recurrent infections	100303755	PET117	OMIM:619063
HP:0002719	Recurrent infections	54872	PIGG	ORPHA:280
HP:0002719	Recurrent infections	7469	NELFA	ORPHA:280
HP:0002719	Recurrent infections	1487	CTBP1	ORPHA:280
HP:0002719	Recurrent infections	3954	LETM1	ORPHA:280
HP:0002719	Recurrent infections	7468	NSD2	ORPHA:280
HP:0002719	Recurrent infections	57190	SELENON	ORPHA:2020
HP:0002719	Recurrent infections	58	ACTA1	ORPHA:2020
HP:0002719	Recurrent infections	4633	MYL2	ORPHA:2020
HP:0002719	Recurrent infections	3679	ITGA7	ORPHA:2020
HP:0002719	Recurrent infections	7169	TPM2	ORPHA:2020
HP:0002719	Recurrent infections	9200	HACD1	ORPHA:2020
HP:0002719	Recurrent infections	7170	TPM3	ORPHA:2020
HP:0002719	Recurrent infections	51776	MAP3K20	ORPHA:2020
HP:0002719	Recurrent infections	567	B2M	OMIM:241600
HP:0002719	Recurrent infections	29128	UHRF1	ORPHA:2268
HP:0002719	Recurrent infections	1789	DNMT3B	ORPHA:2268
HP:0002719	Recurrent infections	2752	GLUL	OMIM:610015
HP:0002719	Recurrent infections	175	AGA	ORPHA:93
HP:0002719	Recurrent infections	175	AGA	OMIM:208400
HP:0002719	Recurrent infections	4853	NOTCH2	ORPHA:955
HP:0002719	Recurrent infections	113278	SLC52A3	OMIM:211530
HP:0002719	Recurrent infections	7092	TLL1	ORPHA:99106
HP:0002719	Recurrent infections	4534	MTM1	ORPHA:596
HP:0002719	Recurrent infections	330	BIRC3	ORPHA:52417
HP:0002719	Recurrent infections	10892	MALT1	ORPHA:52417
HP:0002719	Recurrent infections	3492	IGH	ORPHA:52417
HP:0002719	Recurrent infections	10043	TOM1	OMIM:619510
HP:0002719	Recurrent infections	57217	TTC7A	OMIM:243150
HP:0002719	Recurrent infections	55773	TBC1D23	OMIM:617695
HP:0002719	Recurrent infections	9508	ADAMTS3	ORPHA:2136
HP:0002719	Recurrent infections	147372	CCBE1	ORPHA:2136
HP:0002719	Recurrent infections	79633	FAT4	ORPHA:2136
HP:0002719	Recurrent infections	9681	DEPDC5	OMIM:620504
HP:0002719	Recurrent infections	1493	CTLA4	ORPHA:900
HP:0002719	Recurrent infections	26191	PTPN22	ORPHA:900
HP:0002719	Recurrent infections	3115	HLA-DPB1	ORPHA:900
HP:0002719	Recurrent infections	5657	PRTN3	ORPHA:900
HP:0002719	Recurrent infections	3113	HLA-DPA1	ORPHA:900
HP:0002719	Recurrent infections	3675	ITGA3	OMIM:614748
HP:0002719	Recurrent infections	415	ARSL	ORPHA:79345
HP:0002719	Recurrent infections	6609	SMPD1	OMIM:257200
HP:0002719	Recurrent infections	6609	SMPD1	OMIM:607616
HP:0002719	Recurrent infections	93986	FOXP2	ORPHA:251061
HP:0002719	Recurrent infections	472	ATM	ORPHA:100
HP:0002719	Recurrent infections	2947	GSTM3	ORPHA:586
HP:0002719	Recurrent infections	7040	TGFB1	ORPHA:586
HP:0002719	Recurrent infections	7040	TGFB1	OMIM:618213
HP:0002719	Recurrent infections	2729	GCLC	ORPHA:586
HP:0002719	Recurrent infections	1084	CEACAM3	ORPHA:586
HP:0002719	Recurrent infections	6556	SLC11A1	ORPHA:586
HP:0002719	Recurrent infections	51164	DCTN4	ORPHA:586
HP:0002719	Recurrent infections	3783	KCNN4	ORPHA:586
HP:0002719	Recurrent infections	4282	MIF	ORPHA:586
HP:0002719	Recurrent infections	1909	EDNRA	ORPHA:586
HP:0002719	Recurrent infections	6550	SLC9A3	ORPHA:586
HP:0002719	Recurrent infections	3162	HMOX1	ORPHA:586
HP:0002719	Recurrent infections	115019	SLC26A9	ORPHA:586
HP:0002719	Recurrent infections	3077	HFE	ORPHA:586
HP:0002719	Recurrent infections	11254	SLC6A14	ORPHA:586
HP:0002719	Recurrent infections	5265	SERPINA1	ORPHA:586
HP:0002719	Recurrent infections	1080	CFTR	ORPHA:586
HP:0002719	Recurrent infections	22802	CLCA4	ORPHA:586
HP:0002719	Recurrent infections	4680	CEACAM6	ORPHA:586
HP:0002719	Recurrent infections	4644	MYO5A	ORPHA:33445
HP:0002719	Recurrent infections	9321	TRIP11	OMIM:184260
HP:0002719	Recurrent infections	9772	TMEM94	OMIM:618316
HP:0002719	Recurrent infections	9338	TCEAL1	OMIM:301094
HP:0002719	Recurrent infections	26154	ABCA12	ORPHA:457
HP:0002719	Recurrent infections	26154	ABCA12	ORPHA:313
HP:0002719	Recurrent infections	6638	SNRPN	ORPHA:98754
HP:0002719	Recurrent infections	6638	SNRPN	ORPHA:177904
HP:0002719	Recurrent infections	6638	SNRPN	ORPHA:177901
HP:0002719	Recurrent infections	6638	SNRPN	ORPHA:177907
HP:0002719	Recurrent infections	4692	NDN	ORPHA:98754
HP:0002719	Recurrent infections	4692	NDN	ORPHA:177904
HP:0002719	Recurrent infections	4692	NDN	ORPHA:177901
HP:0002719	Recurrent infections	54551	MAGEL2	ORPHA:98754
HP:0002719	Recurrent infections	54551	MAGEL2	OMIM:176270
HP:0002719	Recurrent infections	54551	MAGEL2	ORPHA:177904
HP:0002719	Recurrent infections	54551	MAGEL2	ORPHA:177901
HP:0002719	Recurrent infections	54551	MAGEL2	ORPHA:398069
HP:0002719	Recurrent infections	4948	OCA2	ORPHA:98754
HP:0002719	Recurrent infections	4948	OCA2	ORPHA:177904
HP:0002719	Recurrent infections	4948	OCA2	ORPHA:177901
HP:0002719	Recurrent infections	145873	MESP2	OMIM:608681
HP:0002719	Recurrent infections	145873	MESP2	OMIM:277300
HP:0002719	Recurrent infections	64135	IFIH1	OMIM:619773
HP:0002719	Recurrent infections	64135	IFIH1	OMIM:182250
HP:0002719	Recurrent infections	8242	KDM5C	OMIM:300534
HP:0002719	Recurrent infections	197258	FCSK	OMIM:618324
HP:0002719	Recurrent infections	79989	IFT56	OMIM:619534
HP:0002719	Recurrent infections	23219	FBXO28	OMIM:619777
HP:0002719	Recurrent infections	51322	WAC	ORPHA:466950
HP:0002719	Recurrent infections	6509	SLC1A4	ORPHA:447997
HP:0002719	Recurrent infections	79087	ALG12	ORPHA:79324
HP:0002719	Recurrent infections	2000	ELF4	OMIM:301074
HP:0002719	Recurrent infections	2629	GBA1	ORPHA:77261
HP:0002719	Recurrent infections	2629	GBA1	ORPHA:77260
HP:0002719	Recurrent infections	51053	GMNN	OMIM:616835
HP:0002719	Recurrent infections	7319	UBE2A	ORPHA:163956
HP:0002719	Recurrent infections	5062	PAK2	OMIM:618458
HP:0002719	Recurrent infections	1828	DSG1	OMIM:615508
HP:0002719	Recurrent infections	6778	STAT6	OMIM:620532
HP:0002719	Recurrent infections	3559	IL2RA	OMIM:606367
HP:0002719	Recurrent infections	5830	PEX5	OMIM:616716
HP:0002719	Recurrent infections	219285	SAMD9L	ORPHA:2585
HP:0002719	Recurrent infections	6792	CDKL5	ORPHA:1934
HP:0002719	Recurrent infections	3736	KCNA1	ORPHA:1934
HP:0002719	Recurrent infections	9091	PIGQ	ORPHA:1934
HP:0002719	Recurrent infections	140679	SLC32A1	ORPHA:1934
HP:0002719	Recurrent infections	2775	GNAO1	ORPHA:1934
HP:0002719	Recurrent infections	81603	TRIM8	ORPHA:1934
HP:0002719	Recurrent infections	2902	GRIN1	ORPHA:1934
HP:0002719	Recurrent infections	79751	SLC25A22	ORPHA:1934
HP:0002719	Recurrent infections	150094	SIK1	ORPHA:1934
HP:0002719	Recurrent infections	8573	CASK	ORPHA:1934
HP:0002719	Recurrent infections	23312	DMXL2	ORPHA:1934
HP:0002719	Recurrent infections	170302	ARX	ORPHA:1934
HP:0002719	Recurrent infections	11284	PNKP	ORPHA:1934
HP:0002719	Recurrent infections	6326	SCN2A	ORPHA:1934
HP:0002719	Recurrent infections	51227	PIGP	ORPHA:1934
HP:0002719	Recurrent infections	6324	SCN1B	ORPHA:1934
HP:0002719	Recurrent infections	4761	NEUROD2	ORPHA:1934
HP:0002719	Recurrent infections	204	AK2	ORPHA:33355
HP:0002719	Recurrent infections	1288	COL4A6	ORPHA:1018
HP:0002719	Recurrent infections	1287	COL4A5	ORPHA:1018
HP:0002719	Recurrent infections	89891	DYNC2I2	OMIM:615633
HP:0002719	Recurrent infections	8818	DPM2	ORPHA:329178
HP:0002719	Recurrent infections	8737	RIPK1	OMIM:618108
HP:0002719	Recurrent infections	4173	MCM4	OMIM:609981
HP:0002719	Recurrent infections	100033413	SNORD116-1	OMIM:176270
HP:0002719	Recurrent infections	8924	HERC2	OMIM:176270
HP:0002719	Recurrent infections	23742	NPAP1	OMIM:176270
HP:0002719	Recurrent infections	338433	SNORD115-1	OMIM:176270
HP:0002719	Recurrent infections	7681	MKRN3	OMIM:176270
HP:0002719	Recurrent infections	145624	PWAR1	OMIM:176270
HP:0002719	Recurrent infections	3653	IPW	OMIM:176270
HP:0002719	Recurrent infections	791114	PWRN1	OMIM:176270
HP:0002719	Recurrent infections	10312	TCIRG1	ORPHA:667
HP:0002719	Recurrent infections	1186	CLCN7	ORPHA:667
HP:0002719	Recurrent infections	29887	SNX10	ORPHA:667
HP:0002719	Recurrent infections	8600	TNFSF11	ORPHA:667
HP:0002719	Recurrent infections	7372	UMPS	ORPHA:30
HP:0002719	Recurrent infections	57379	AICDA	OMIM:605258
HP:0002719	Recurrent infections	23114	NFASC	OMIM:618356
HP:0002719	Recurrent infections	6606	SMN1	OMIM:253550
HP:0002719	Recurrent infections	6606	SMN1	OMIM:253300
HP:0002719	Recurrent infections	6905	TBCE	ORPHA:2323
HP:0002719	Recurrent infections	54014	BRWD1	OMIM:620438
HP:0002719	Recurrent infections	83479	DDX59	OMIM:174300
HP:0002719	Recurrent infections	6492	SIM1	ORPHA:398079
HP:0002719	Recurrent infections	114803	MYSM1	OMIM:618116
HP:0002719	Recurrent infections	59067	IL21	OMIM:615767
HP:0002719	Recurrent infections	7248	TSC1	ORPHA:538
HP:0002719	Recurrent infections	7249	TSC2	ORPHA:538
HP:0002719	Recurrent infections	10683	DLL3	OMIM:277300
HP:0002719	Recurrent infections	4952	OCRL	ORPHA:534
HP:0002719	Recurrent infections	4068	SH2D1A	OMIM:308240
HP:0002719	Recurrent infections	427	ASAH1	OMIM:159950
HP:0002719	Recurrent infections	8625	RFXANK	ORPHA:572
HP:0002719	Recurrent infections	10320	IKZF1	ORPHA:36426
HP:0002719	Recurrent infections	4621	MYH3	OMIM:193700
HP:0002719	Recurrent infections	6335	SCN9A	ORPHA:90026
HP:0002719	Recurrent infections	11280	SCN11A	ORPHA:90026
HP:0002719	Recurrent infections	6336	SCN10A	ORPHA:90026
HP:0002719	Recurrent infections	10092	ARPC5	OMIM:620565
HP:0002719	Recurrent infections	3431	SP110	ORPHA:79124
HP:0002719	Recurrent infections	55764	IFT122	OMIM:218330
HP:0002719	Recurrent infections	7703	PCGF2	OMIM:618371
HP:0002719	Recurrent infections	774	CACNA1B	OMIM:618497
HP:0002719	Recurrent infections	7161	TP73	OMIM:619466
HP:0002719	Recurrent infections	254428	SLC41A1	OMIM:619468
HP:0002719	Recurrent infections	51300	TIMMDC1	OMIM:618251
HP:0002719	Recurrent infections	8802	SUCLG1	ORPHA:17
HP:0002719	Recurrent infections	146206	CARMIL2	OMIM:618131
HP:0002719	Recurrent infections	860	RUNX2	ORPHA:1452
HP:0002719	Recurrent infections	25839	COG4	OMIM:613489
HP:0002719	Recurrent infections	8742	TNFSF12	ORPHA:1572
HP:0002719	Recurrent infections	931	MS4A1	ORPHA:1572
HP:0002719	Recurrent infections	931	MS4A1	OMIM:613495
HP:0002719	Recurrent infections	975	CD81	ORPHA:1572
HP:0002719	Recurrent infections	975	CD81	OMIM:613496
HP:0002719	Recurrent infections	359948	IRF2BP2	ORPHA:1572
HP:0002719	Recurrent infections	2313	FLI1	ORPHA:2308
HP:0002719	Recurrent infections	151516	ASPRV1	ORPHA:313
HP:0002719	Recurrent infections	242	ALOX12B	ORPHA:313
HP:0002719	Recurrent infections	126410	CYP4F22	ORPHA:313
HP:0002719	Recurrent infections	6820	SULT2B1	ORPHA:313
HP:0002719	Recurrent infections	643418	LIPN	ORPHA:313
HP:0002719	Recurrent infections	59344	ALOXE3	ORPHA:313
HP:0002719	Recurrent infections	348938	NIPAL4	ORPHA:313
HP:0002719	Recurrent infections	121214	SDR9C7	ORPHA:313
HP:0002719	Recurrent infections	7051	TGM1	ORPHA:313
HP:0002719	Recurrent infections	1075	CTSC	ORPHA:678
HP:0002719	Recurrent infections	8943	AP3D1	OMIM:617050
HP:0002719	Recurrent infections	2517	FUCA1	OMIM:230000
HP:0002719	Recurrent infections	2548	GAA	OMIM:232300
HP:0002719	Recurrent infections	84665	MYPN	ORPHA:75249
HP:0002719	Recurrent infections	2318	FLNC	ORPHA:75249
HP:0002719	Recurrent infections	7139	TNNT2	ORPHA:75249
HP:0002719	Recurrent infections	7137	TNNI3	ORPHA:75249
HP:0002719	Recurrent infections	10112	KIF20A	ORPHA:75249
HP:0002719	Recurrent infections	1836	SLC26A2	ORPHA:628
HP:0002719	Recurrent infections	3636	INPPL1	OMIM:258480
HP:0002719	Recurrent infections	3636	INPPL1	ORPHA:2746
HP:0002719	Recurrent infections	2077	ERF	OMIM:617180
HP:0002719	Recurrent infections	55617	TASP1	OMIM:618950
HP:0002719	Recurrent infections	54790	TET2	OMIM:619126
HP:0002719	Recurrent infections	8239	USP9X	OMIM:300968
HP:0002719	Recurrent infections	51124	IER3IP1	OMIM:614231
HP:0002719	Recurrent infections	57477	SHROOM4	ORPHA:85288
HP:0002719	Recurrent infections	84340	GFM2	OMIM:618397
HP:0002719	Recurrent infections	6911	TBX6	ORPHA:1797
HP:0002719	Recurrent infections	2890	GRIA1	OMIM:619927
HP:0002719	Recurrent infections	7297	TYK2	OMIM:611521
HP:0002719	Recurrent infections	60482	SLC5A7	ORPHA:98914
HP:0002719	Recurrent infections	4649	MYO9A	ORPHA:98914
HP:0002719	Recurrent infections	1305	COL13A1	ORPHA:98914
HP:0002719	Recurrent infections	1103	CHAT	ORPHA:98914
HP:0002719	Recurrent infections	6576	SLC25A1	ORPHA:98914
HP:0002719	Recurrent infections	6843	VAMP1	ORPHA:98914
HP:0002719	Recurrent infections	375790	AGRN	ORPHA:98914
HP:0002719	Recurrent infections	127833	SYT2	ORPHA:98914
HP:0002719	Recurrent infections	6572	SLC18A3	ORPHA:98914
HP:0002719	Recurrent infections	6616	SNAP25	ORPHA:98914
HP:0002719	Recurrent infections	6337	SCNN1A	OMIM:264350
HP:0002719	Recurrent infections	1893	ECM1	ORPHA:530
HP:0002719	Recurrent infections	925	CD8A	OMIM:608957
HP:0002719	Recurrent infections	9895	TECPR2	ORPHA:320385
HP:0002719	Recurrent infections	4938	OAS1	OMIM:618042
HP:0002719	Recurrent infections	8651	SOCS1	OMIM:619375
HP:0002719	Recurrent infections	738	VPS51	OMIM:618606
HP:0002719	Recurrent infections	5116	PCNT	ORPHA:2637
HP:0002719	Recurrent infections	5430	POLR2A	OMIM:618603
HP:0002719	Recurrent infections	2624	GATA2	ORPHA:228423
HP:0002719	Recurrent infections	23522	KAT6B	ORPHA:3047
HP:0002719	Recurrent infections	26123	TCTN3	ORPHA:2753
HP:0002719	Recurrent infections	9897	WASHC5	ORPHA:7
HP:0002719	Recurrent infections	28952	CCDC22	ORPHA:7
HP:0002719	Recurrent infections	57020	VPS35L	ORPHA:7
HP:0002719	Recurrent infections	56896	DPYSL5	ORPHA:7
HP:0002719	Recurrent infections	129285	PPP1R21	OMIM:619383
HP:0002719	Recurrent infections	80169	CTC1	ORPHA:1775
HP:0002719	Recurrent infections	26277	TINF2	ORPHA:1775
HP:0002719	Recurrent infections	55651	NHP2	ORPHA:1775
HP:0002719	Recurrent infections	55135	WRAP53	ORPHA:1775
HP:0002719	Recurrent infections	51750	RTEL1	ORPHA:1775
HP:0002719	Recurrent infections	4869	NPM1	ORPHA:1775
HP:0002719	Recurrent infections	55505	NOP10	ORPHA:1775
HP:0002719	Recurrent infections	5073	PARN	ORPHA:1775
HP:0002719	Recurrent infections	1736	DKC1	ORPHA:1775
HP:0002719	Recurrent infections	6892	TAPBP	OMIM:620814
HP:0002719	Recurrent infections	406932	MIR140	OMIM:618618
HP:0002719	Recurrent infections	6891	TAP2	OMIM:620813
HP:0002719	Recurrent infections	25871	NEPRO	OMIM:618853
HP:0002719	Recurrent infections	9325	TRIP4	ORPHA:486815
HP:0002719	Recurrent infections	3561	IL2RG	ORPHA:276
HP:0002719	Recurrent infections	57057	TBX20	ORPHA:99103
HP:0002719	Recurrent infections	4624	MYH6	ORPHA:99103
HP:0002719	Recurrent infections	1482	NKX2-5	ORPHA:99103
HP:0002719	Recurrent infections	70	ACTC1	ORPHA:99103
HP:0002719	Recurrent infections	10370	CITED2	ORPHA:99103
HP:0002719	Recurrent infections	2626	GATA4	ORPHA:99103
HP:0002719	Recurrent infections	2627	GATA6	ORPHA:99103
HP:0002719	Recurrent infections	9056	SLC7A7	ORPHA:470
HP:0002719	Recurrent infections	64421	DCLRE1C	ORPHA:275
HP:0002719	Recurrent infections	64421	DCLRE1C	OMIM:603554
HP:0002719	Recurrent infections	83706	FERMT3	OMIM:612840
HP:0002719	Recurrent infections	22806	IKZF3	OMIM:619437
HP:0002719	Recurrent infections	718	C3	OMIM:613779
HP:0002719	Recurrent infections	6789	STK4	OMIM:614868
HP:0002719	Recurrent infections	1776	DNASE1L3	ORPHA:36412
HP:0002719	Recurrent infections	51135	IRAK4	ORPHA:70592
HP:0002719	Recurrent infections	959	CD40LG	OMIM:308230
HP:0002719	Recurrent infections	3075	CFH	OMIM:609814
HP:0002719	Recurrent infections	629	CFB	OMIM:615561
HP:0002719	Recurrent infections	55072	RNF31	OMIM:620632
HP:0002719	Recurrent infections	79840	NHEJ1	ORPHA:169079
HP:0002719	Recurrent infections	10559	SLC35A1	OMIM:603585
HP:0002719	Recurrent infections	5873	RAB27A	OMIM:607624
HP:0002719	Recurrent infections	51371	POMP	OMIM:618048
HP:0002719	Recurrent infections	50619	DEF6	OMIM:619573
HP:0002719	Recurrent infections	7852	CXCR4	OMIM:193670
HP:0002719	Recurrent infections	7852	CXCR4	ORPHA:51636
HP:0002719	Recurrent infections	9020	MAP3K14	OMIM:620449
HP:0002719	Recurrent infections	10616	RBCK1	OMIM:615895
HP:0002719	Recurrent infections	1675	CFD	OMIM:613912
HP:0002719	Recurrent infections	6728	SRP19	ORPHA:486
HP:0002719	Recurrent infections	1991	ELANE	ORPHA:486
HP:0002719	Recurrent infections	1991	ELANE	OMIM:202700
HP:0002719	Recurrent infections	2672	GFI1	ORPHA:486
HP:0002719	Recurrent infections	7374	UNG	OMIM:608106
HP:0002719	Recurrent infections	958	CD40	OMIM:606843
HP:0002719	Recurrent infections	10456	HAX1	OMIM:610738
HP:0002719	Recurrent infections	3689	ITGB2	OMIM:116920
HP:0002719	Recurrent infections	27183	VPS4A	OMIM:619273
HP:0002719	Recurrent infections	7528	YY1	ORPHA:506358
HP:0002719	Recurrent infections	7528	YY1	OMIM:617557
HP:0002719	Recurrent infections	26960	NBEA	OMIM:619157
HP:0002719	Recurrent infections	3071	NCKAP1L	OMIM:618982
HP:0002719	Recurrent infections	3551	IKBKB	OMIM:615592
HP:0002719	Recurrent infections	26235	FBXL4	OMIM:615471
HP:0002719	Recurrent infections	8367	H4C5	OMIM:619950
HP:0002719	Recurrent infections	5728	PTEN	OMIM:605309
HP:0002719	Recurrent infections	5728	PTEN	OMIM:158350
HP:0002719	Recurrent infections	4598	MVK	OMIM:260920
HP:0002719	Recurrent infections	4598	MVK	OMIM:610377
HP:0002719	Recurrent infections	6777	STAT5B	OMIM:618985
HP:0002719	Recurrent infections	5238	PGM3	ORPHA:443811
HP:0002719	Recurrent infections	987	LRBA	OMIM:614700
HP:0002719	Recurrent infections	3119	HLA-DQB1	ORPHA:703
HP:0002719	Recurrent infections	3123	HLA-DRB1	ORPHA:703
HP:0002719	Recurrent infections	8854	ALDH1A2	OMIM:620025
HP:0002719	Recurrent infections	2316	FLNA	ORPHA:99811
HP:0002719	Recurrent infections	2316	FLNA	OMIM:300049
HP:0002719	Recurrent infections	4125	MAN2B1	ORPHA:309282
HP:0002719	Recurrent infections	4125	MAN2B1	ORPHA:309288
HP:0002719	Recurrent infections	1729	DIAPH1	ORPHA:477814
HP:0002719	Recurrent infections	7018	TF	ORPHA:1195
HP:0002719	Recurrent infections	4522	MTHFD1	OMIM:617780
HP:0002719	Recurrent infections	939	CD27	OMIM:615122
HP:0002719	Recurrent infections	80816	ASXL3	OMIM:615485
HP:0002719	Recurrent infections	89910	UBE3B	OMIM:244450
HP:0002719	Recurrent infections	84433	CARD11	OMIM:616452
HP:0002719	Recurrent infections	2137	EXTL3	OMIM:617425
HP:0002719	Recurrent infections	5184	PEPD	OMIM:170100
HP:0002719	Recurrent infections	4790	NFKB1	OMIM:616576
HP:0002719	Recurrent infections	55788	LMBRD1	OMIM:277380
HP:0002719	Recurrent infections	55788	LMBRD1	ORPHA:79284
HP:0002719	Recurrent infections	8456	FOXN1	ORPHA:83471
HP:0002719	Recurrent infections	1717	DHCR7	ORPHA:818
HP:0002719	Recurrent infections	9382	COG1	OMIM:611209
HP:0002719	Recurrent infections	4868	NPHS1	OMIM:256300
HP:0002719	Recurrent infections	7298	TYMS	OMIM:620040
HP:0002719	Recurrent infections	3458	IFNG	ORPHA:88
HP:0002719	Recurrent infections	5551	PRF1	ORPHA:88
HP:0002719	Recurrent infections	7012	TERC	ORPHA:88
HP:0002719	Recurrent infections	51119	SBDS	ORPHA:88
HP:0002719	Recurrent infections	51119	SBDS	OMIM:260400
HP:0002719	Recurrent infections	7015	TERT	ORPHA:88
HP:0002719	Recurrent infections	51360	MBTPS2	ORPHA:2273
HP:0002719	Recurrent infections	6772	STAT1	OMIM:614162
HP:0002719	Recurrent infections	6772	STAT1	ORPHA:391487
HP:0002719	Recurrent infections	9739	SETD1A	OMIM:619056
HP:0002719	Recurrent infections	80204	FBXO11	OMIM:618089
HP:0002719	Recurrent infections	84876	ORAI1	OMIM:612782
HP:0002719	Recurrent infections	6786	STIM1	OMIM:612783
HP:0002719	Recurrent infections	340061	STING1	OMIM:615934
HP:0002719	Recurrent infections	5631	PRPS1	ORPHA:1187
HP:0002719	Recurrent infections	5631	PRPS1	OMIM:300661
HP:0002719	Recurrent infections	5631	PRPS1	OMIM:301835
HP:0002719	Recurrent infections	8289	ARID1A	OMIM:614607
HP:0002719	Recurrent infections	8289	ARID1A	ORPHA:1465
HP:0002719	Recurrent infections	4210	MEFV	ORPHA:3243
HP:0002719	Recurrent infections	5777	PTPN6	ORPHA:3243
HP:0002719	Recurrent infections	8772	FADD	OMIM:613759
HP:0002719	Recurrent infections	6598	SMARCB1	OMIM:614608
HP:0002719	Recurrent infections	6598	SMARCB1	ORPHA:1465
HP:0002719	Recurrent infections	6597	SMARCA4	OMIM:614609
HP:0002719	Recurrent infections	6597	SMARCA4	ORPHA:1465
HP:0002719	Recurrent infections	1130	LYST	ORPHA:167
HP:0002719	Recurrent infections	1130	LYST	OMIM:214500
HP:0002719	Recurrent infections	6899	TBX1	OMIM:188400
HP:0002719	Recurrent infections	6899	TBX1	OMIM:192430
HP:0002719	Recurrent infections	171023	ASXL1	ORPHA:97297
HP:0002719	Recurrent infections	171023	ASXL1	OMIM:605039
HP:0002719	Recurrent infections	9839	ZEB2	ORPHA:261552
HP:0002719	Recurrent infections	9839	ZEB2	ORPHA:261537
HP:0002719	Recurrent infections	64919	BCL11B	OMIM:618092
HP:0002719	Recurrent infections	1656	DDX6	OMIM:618653
HP:0002719	Recurrent infections	7156	TOP3A	OMIM:618097
HP:0002719	Recurrent infections	79813	EHMT1	OMIM:610253
HP:0002719	Recurrent infections	79813	EHMT1	ORPHA:261652
HP:0002719	Recurrent infections	10125	RASGRP1	OMIM:618534
HP:0002719	Recurrent infections	113235	SLC46A1	OMIM:229050
HP:0002719	Recurrent infections	3070	HELLS	OMIM:616911
HP:0002719	Recurrent infections	26057	ANKRD17	OMIM:619504
HP:0002719	Recurrent infections	83879	CDCA7	OMIM:616910
HP:0002719	Recurrent infections	55361	PI4K2A	OMIM:620732
HP:0002719	Recurrent infections	84947	SERAC1	OMIM:614739
HP:0002719	Recurrent infections	10522	DEAF1	OMIM:615828
HP:0002719	Recurrent infections	10522	DEAF1	ORPHA:468620
HP:0002719	Recurrent infections	54	ACP5	ORPHA:1855
HP:0002719	Recurrent infections	1499	CTNNB1	ORPHA:54595
HP:0002719	Recurrent infections	673	BRAF	ORPHA:54595
HP:0002719	Recurrent infections	3043	HBB	ORPHA:232
HP:0002719	Recurrent infections	729230	CCR2	OMIM:219600
HP:0002719	Recurrent infections	3981	LIG4	ORPHA:235
HP:0002719	Recurrent infections	54888	NSUN2	ORPHA:235
HP:0002719	Recurrent infections	8493	PPM1D	OMIM:617450
HP:0002719	Recurrent infections	23126	POGZ	OMIM:616364
HP:0002719	Recurrent infections	6135	RPL11	OMIM:612562
HP:0002719	Recurrent infections	6023	RMRP	OMIM:250250
HP:0002719	Recurrent infections	9841	ZBTB24	OMIM:614069
HP:0002719	Recurrent infections	712	C1QA	OMIM:613652
HP:0002719	Recurrent infections	51692	CPSF3	OMIM:619876
HP:0002719	Recurrent infections	6134	RPL10	ORPHA:459070
HP:0002719	Recurrent infections	6134	RPL10	OMIM:300998
HP:0002719	Recurrent infections	6134	RPL10	ORPHA:435938
HP:0002719	Recurrent infections	83475	DOHH	OMIM:620066
HP:0002719	Recurrent infections	1859	DYRK1A	ORPHA:464311
HP:0002719	Recurrent infections	1859	DYRK1A	OMIM:614104
HP:0002719	Recurrent infections	55719	SLF2	OMIM:620184
HP:0002719	Recurrent infections	92667	MGME1	ORPHA:352447
HP:0002719	Recurrent infections	92667	MGME1	OMIM:615084
HP:0002719	Recurrent infections	56052	ALG1	ORPHA:79327
HP:0002719	Recurrent infections	3575	IL7R	ORPHA:169154
HP:0002719	Recurrent infections	715	C1R	OMIM:130080
HP:0002719	Recurrent infections	331	XIAP	ORPHA:538934
HP:0002719	Recurrent infections	331	XIAP	OMIM:300635
HP:0002719	Recurrent infections	58508	KMT2C	ORPHA:261652
HP:0002719	Recurrent infections	11311	VPS45	OMIM:615285
HP:0002719	Recurrent infections	50485	SMARCAL1	ORPHA:1830
HP:0002719	Recurrent infections	50485	SMARCAL1	OMIM:242900
HP:0002719	Recurrent infections	54487	DGCR8	OMIM:192430
HP:0002719	Recurrent infections	8214	DGCR6	OMIM:192430
HP:0002719	Recurrent infections	8220	ESS2	OMIM:192430
HP:0002719	Recurrent infections	9993	DGCR2	OMIM:192430
HP:0002719	Recurrent infections	6605	SMARCE1	OMIM:616938
HP:0002719	Recurrent infections	6605	SMARCE1	ORPHA:1465
HP:0002719	Recurrent infections	91949	COG7	ORPHA:79333
HP:0002719	Recurrent infections	91949	COG7	OMIM:608779
HP:0002719	Recurrent infections	55343	SLC35C1	ORPHA:99843
HP:0002719	Recurrent infections	775	CACNA1C	OMIM:601005
HP:0002719	Recurrent infections	3978	LIG1	OMIM:619774
HP:0002719	Recurrent infections	7355	SLC35A2	OMIM:300896
HP:0002719	Recurrent infections	5692	PSMB4	OMIM:617591
HP:0002719	Recurrent infections	6929	TCF3	OMIM:616941
HP:0002719	Recurrent infections	6929	TCF3	ORPHA:33110
HP:0002719	Recurrent infections	6929	TCF3	OMIM:619824
HP:0002719	Recurrent infections	50943	FOXP3	ORPHA:37042
HP:0002719	Recurrent infections	4733	DRG1	OMIM:620641
HP:0002719	Recurrent infections	64116	SLC39A8	ORPHA:468699
HP:0002719	Recurrent infections	64116	SLC39A8	OMIM:616721
HP:0002719	Recurrent infections	404672	GTF2H5	ORPHA:33364
HP:0002719	Recurrent infections	404672	GTF2H5	OMIM:616395
HP:0002719	Recurrent infections	833	CARS1	ORPHA:33364
HP:0002719	Recurrent infections	2068	ERCC2	ORPHA:33364
HP:0002719	Recurrent infections	2068	ERCC2	OMIM:601675
HP:0002719	Recurrent infections	7737	RNF113A	ORPHA:33364
HP:0002719	Recurrent infections	7737	RNF113A	OMIM:300953
HP:0002719	Recurrent infections	136647	MPLKIP	ORPHA:33364
HP:0002719	Recurrent infections	6897	TARS1	ORPHA:33364
HP:0002719	Recurrent infections	16	AARS1	ORPHA:33364
HP:0002719	Recurrent infections	2071	ERCC3	ORPHA:33364
HP:0002719	Recurrent infections	2961	GTF2E2	ORPHA:33364
HP:0002719	Recurrent infections	10195	ALG3	ORPHA:79321
HP:0002719	Recurrent infections	3514	IGKC	ORPHA:183675
HP:0002719	Recurrent infections	3514	IGKC	OMIM:614102
HP:0002719	Recurrent infections	3501	IGHG2	ORPHA:183675
HP:0002719	Recurrent infections	51311	TLR8	OMIM:301078
HP:0002719	Recurrent infections	641	BLM	ORPHA:125
HP:0002719	Recurrent infections	56246	MRAP	ORPHA:361
HP:0002719	Recurrent infections	6770	STAR	ORPHA:361
HP:0002719	Recurrent infections	4158	MC2R	ORPHA:361
HP:0002719	Recurrent infections	4158	MC2R	OMIM:202200
HP:0002719	Recurrent infections	23530	NNT	ORPHA:361
HP:0002719	Recurrent infections	10587	TXNRD2	ORPHA:361
HP:0002719	Recurrent infections	4615	MYD88	ORPHA:33226
HP:0002719	Recurrent infections	8295	TRRAP	OMIM:618454
HP:0002719	Recurrent infections	81570	CLPB	OMIM:616271
HP:0002719	Recurrent infections	3594	IL12RB1	OMIM:614891
HP:0002719	Recurrent infections	3980	LIG3	OMIM:619780
HP:0002719	Recurrent infections	5256	PHKA2	ORPHA:264580
HP:0002719	Recurrent infections	5261	PHKG2	ORPHA:264580
HP:0002719	Recurrent infections	3394	IRF8	OMIM:614893
HP:0002719	Recurrent infections	3394	IRF8	OMIM:226990
HP:0002719	Recurrent infections	5426	POLE	OMIM:618336
HP:0002719	Recurrent infections	10664	CTCF	OMIM:615502
HP:0002719	Recurrent infections	10664	CTCF	ORPHA:363611
HP:0002719	Recurrent infections	284119	CAVIN1	OMIM:613327
HP:0002719	Recurrent infections	57724	EPG5	ORPHA:1493
HP:0002719	Recurrent infections	78987	CRELD1	OMIM:620771
HP:0002719	Recurrent infections	7922	SLC39A7	ORPHA:33110
HP:0002719	Recurrent infections	973	CD79A	ORPHA:33110
HP:0002719	Recurrent infections	974	CD79B	ORPHA:33110
HP:0002719	Recurrent infections	6688	SPI1	ORPHA:33110
HP:0002719	Recurrent infections	3543	IGLL1	ORPHA:33110
HP:0002719	Recurrent infections	3507	IGHM	ORPHA:33110
HP:0002719	Recurrent infections	29760	BLNK	ORPHA:33110
HP:0002719	Recurrent infections	5295	PIK3R1	ORPHA:33110
HP:0002719	Recurrent infections	5295	PIK3R1	OMIM:615214
HP:0002719	Recurrent infections	56262	LRRC8A	ORPHA:33110
HP:0002719	Recurrent infections	10159	ATP6AP2	OMIM:301045
HP:0002719	Recurrent infections	695	BTK	OMIM:300755
HP:0002719	Recurrent infections	1441	CSF3R	OMIM:617014
HP:0002719	Recurrent infections	4688	NCF2	OMIM:233710
HP:0002719	Recurrent infections	253738	EBF3	ORPHA:96148
HP:0002719	Recurrent infections	85358	SHANK3	OMIM:606232
HP:0002719	Recurrent infections	128869	PIGU	OMIM:618590
HP:0002719	Recurrent infections	79868	ALG13	OMIM:300884
HP:0002719	Recurrent infections	9948	WDR1	OMIM:150550
HP:0002719	Recurrent infections	6729	SRP54	OMIM:260400
HP:0002719	Recurrent infections	134218	DNAJC21	OMIM:260400
HP:0002719	Recurrent infections	134218	DNAJC21	OMIM:617052
HP:0002719	Recurrent infections	79631	EFL1	OMIM:617941
HP:0002719	Recurrent infections	169792	GLIS3	OMIM:610199
HP:0002719	Recurrent infections	8085	KMT2D	ORPHA:2322
HP:0002719	Recurrent infections	8085	KMT2D	OMIM:147920
HP:0002719	Recurrent infections	7403	KDM6A	ORPHA:2322
HP:0002719	Recurrent infections	7403	KDM6A	OMIM:147920
HP:0002719	Recurrent infections	998	CDC42	OMIM:616737
HP:0002719	Recurrent infections	998	CDC42	ORPHA:487796
HP:0002719	Recurrent infections	8320	EOMES	ORPHA:171703
HP:0002719	Recurrent infections	9837	GINS1	OMIM:617827
HP:0002719	Recurrent infections	915	CD3D	ORPHA:169160
HP:0002719	Recurrent infections	916	CD3E	ORPHA:169160
HP:0002719	Recurrent infections	919	CD247	ORPHA:169160
HP:0002719	Recurrent infections	537	ATP6AP1	OMIM:300972
HP:0002719	Recurrent infections	8260	NAA10	OMIM:300855
HP:0002719	Recurrent infections	3643	INSR	OMIM:246200
HP:0002719	Recurrent infections	3643	INSR	ORPHA:769
HP:0002719	Recurrent infections	6774	STAT3	ORPHA:2314
HP:0002719	Recurrent infections	6659	SOX4	ORPHA:1465
HP:0002719	Recurrent infections	5977	DPF2	ORPHA:1465
HP:0002719	Recurrent infections	6601	SMARCC2	ORPHA:1465
HP:0002719	Recurrent infections	6602	SMARCD1	ORPHA:1465
HP:0002719	Recurrent infections	57492	ARID1B	ORPHA:1465
HP:0002719	Recurrent infections	196528	ARID2	ORPHA:1465
HP:0002719	Recurrent infections	6664	SOX11	ORPHA:1465
HP:0002719	Recurrent infections	3376	IARS1	ORPHA:541423
HP:0002719	Recurrent infections	2917	GRM7	OMIM:618922
HP:0002719	Recurrent infections	5257	PHKB	ORPHA:79240
HP:0002719	Recurrent infections	6775	STAT4	OMIM:620443
HP:0002719	Recurrent infections	10095	ARPC1B	OMIM:617718
HP:0002719	Recurrent infections	9361	LONP1	ORPHA:79243
HP:0002719	Recurrent infections	5160	PDHA1	ORPHA:79243
HP:0002719	Recurrent infections	5422	POLA1	OMIM:301030
HP:0002719	Recurrent infections	25942	SIN3A	ORPHA:94065
HP:0002719	Recurrent infections	3977	LIFR	OMIM:601559
HP:0002719	Recurrent infections	4126	MANBA	OMIM:248510
HP:0002719	Recurrent infections	55340	GIMAP5	OMIM:619463
HP:0002719	Recurrent infections	57511	COG6	OMIM:614576
HP:0002719	Recurrent infections	79415	CYBC1	OMIM:618935
HP:0002719	Recurrent infections	84818	IL17RC	ORPHA:1334
HP:0002719	Recurrent infections	64581	CLEC7A	ORPHA:1334
HP:0002719	Recurrent infections	23765	IL17RA	ORPHA:1334
HP:0002719	Recurrent infections	10758	TRAF3IP2	ORPHA:1334
HP:0002719	Recurrent infections	112744	IL17F	ORPHA:1334
HP:0002719	Recurrent infections	1380	CR2	OMIM:614699
HP:0002719	Recurrent infections	9419	CRIPT	OMIM:615789
HP:0002719	Recurrent infections	91039	DPP9	OMIM:620331
HP:0002719	Recurrent infections	970	CD70	OMIM:618261
HP:0002719	Recurrent infections	57003	CCDC47	OMIM:618268
HP:0002719	Recurrent infections	4629	MYH11	OMIM:619351
HP:0002719	Recurrent infections	2892	GRIA3	ORPHA:364028
HP:0002719	Recurrent infections	3702	ITK	OMIM:613011
HP:0002719	Recurrent infections	29927	SEC61A1	OMIM:617056
HP:0002719	Recurrent infections	6711	SPTBN1	OMIM:619475
HP:0002719	Recurrent infections	23568	ARL2BP	OMIM:615434
HP:0002719	Recurrent infections	10815	CPLX1	OMIM:617976
HP:0002719	Recurrent infections	5580	PRKCD	OMIM:615559
HP:0002719	Recurrent infections	6513	SLC2A1	ORPHA:168577
HP:0002719	Recurrent infections	207	AKT1	ORPHA:744
HP:0002719	Recurrent infections	7204	TRIO	OMIM:617061
HP:0002719	Recurrent infections	7204	TRIO	ORPHA:476126
HP:0002719	Recurrent infections	8915	BCL10	OMIM:616098
HP:0002719	Recurrent infections	4893	NRAS	OMIM:614470
HP:0002719	Recurrent infections	3845	KRAS	OMIM:614470
HP:0002719	Recurrent infections	374354	NHLRC2	OMIM:618278
HP:0002719	Recurrent infections	374879	ZNF699	OMIM:619488
HP:0002719	Recurrent infections	283989	TSEN54	ORPHA:2524
HP:0002719	Recurrent infections	116461	TSEN15	ORPHA:2524
HP:0002719	Recurrent infections	79042	TSEN34	ORPHA:2524
HP:0002719	Recurrent infections	80746	TSEN2	ORPHA:2524
HP:0002719	Recurrent infections	51091	SEPSECS	ORPHA:2524
HP:0002719	Recurrent infections	51816	ADA2	OMIM:615688
HP:0002719	Recurrent infections	50615	IL21R	OMIM:615207
HP:0002719	Recurrent infections	84905	ZNF341	OMIM:618282
HP:0002719	Recurrent infections	6651	SON	ORPHA:500150
HP:0002719	Recurrent infections	84231	TRAF7	OMIM:618164
HP:0002719	Recurrent infections	3937	LCP2	OMIM:619374
HP:0002719	Recurrent infections	5970	RELA	OMIM:618287
HP:0002719	Recurrent infections	27040	LAT	OMIM:617514
HP:0002719	Recurrent infections	8481	OFD1	OMIM:300804
HP:0002719	Recurrent infections	2806	GOT2	OMIM:618721
HP:0002719	Recurrent infections	5557	PRIM1	OMIM:620005
HP:0002719	Recurrent infections	23389	MED13L	OMIM:616789
HP:0002719	Recurrent infections	9757	KMT2B	OMIM:619934
HP:0002719	Recurrent infections	2581	GALC	ORPHA:206436
HP:0002719	Recurrent infections	5660	PSAP	ORPHA:206436
HP:0002719	Recurrent infections	83737	ITCH	ORPHA:228426
HP:0002719	Recurrent infections	9451	EIF2AK3	ORPHA:1667
HP:0002719	Recurrent infections	4860	PNP	ORPHA:760
HP:0002719	Recurrent infections	5965	RECQL	OMIM:620370
HP:0002719	Recurrent infections	6850	SYK	OMIM:619381
HP:0002719	Recurrent infections	4204	MECP2	OMIM:300260
HP:0002719	Recurrent infections	29071	C1GALT1C1	OMIM:301110
HP:0002719	Recurrent infections	1604	CD55	OMIM:226300
HP:0002719	Recurrent infections	118429	ANTXR2	OMIM:228600
HP:0002719	Recurrent infections	5699	PSMB10	OMIM:620807
HP:0002719	Recurrent infections	7456	WIPF1	OMIM:614493
HP:0002719	Recurrent infections	131669	UROC1	ORPHA:210128
HP:0002719	Recurrent infections	84823	LMNB2	OMIM:608709
HP:0002719	Recurrent infections	9652	SKIC3	ORPHA:84064
HP:0002719	Recurrent infections	6499	SKIC2	ORPHA:84064
HP:0002719	Recurrent infections	4689	NCF4	OMIM:613960
HP:0002719	Recurrent infections	3852	KRT5	ORPHA:79396
HP:0002719	Recurrent infections	3861	KRT14	ORPHA:79396
HP:0002719	Recurrent infections	11005	SPINK5	ORPHA:634
HP:0002719	Recurrent infections	8547	FCN3	OMIM:613860
HP:0002719	Recurrent infections	5297	PI4KA	ORPHA:436252
HP:0002719	Recurrent infections	4914	NTRK1	ORPHA:642
HP:0002719	Recurrent infections	4153	MBL2	OMIM:614372
HP:0002719	Recurrent infections	29775	CARD10	OMIM:619632
HP:0002719	Recurrent infections	213	ALB	OMIM:616000
HP:0002719	Recurrent infections	213	ALB	ORPHA:86816
HP:0002719	Recurrent infections	57282	SLC4A10	OMIM:620746
HP:0002719	Recurrent infections	79912	PYROXD1	OMIM:617258
HP:0002719	Recurrent infections	3932	LCK	OMIM:615758
HP:0002719	Recurrent infections	3659	IRF1	OMIM:620668
HP:0002719	Recurrent infections	8021	NUP214	OMIM:618426
HP:0002719	Recurrent infections	54440	SASH3	OMIM:301082
HP:0002719	Recurrent infections	79759	ZNF668	OMIM:620194
HP:0002719	Recurrent infections	57169	ZNFX1	OMIM:619644
HP:0002719	Recurrent infections	6809	STX3	OMIM:619446
HP:0002719	Recurrent infections	1289	COL5A1	OMIM:130000
HP:0002719	Recurrent infections	5424	POLD1	OMIM:620836
HP:0002719	Recurrent infections	10525	HYOU1	OMIM:233600
HP:0002719	Recurrent infections	4780	NFE2L2	OMIM:617744
HP:0002719	Recurrent infections	5591	PRKDC	OMIM:615966
HP:0002719	Recurrent infections	91869	RFT1	OMIM:612015
HP:0002719	Recurrent infections	8292	COLQ	ORPHA:98915
HP:0002719	Recurrent infections	3913	LAMB2	ORPHA:98915
HP:0002719	Recurrent infections	6662	SOX9	OMIM:114290
HP:0002719	Recurrent infections	3908	LAMA2	ORPHA:258
HP:0002719	Recurrent infections	57609	DIP2B	OMIM:136630
HP:0002719	Recurrent infections	3604	TNFRSF9	OMIM:620282
HP:0002719	Recurrent infections	4718	NDUFC2	OMIM:619170
HP:0002719	Recurrent infections	2530	FUT8	OMIM:618005
HP:0002719	Recurrent infections	1292	COL6A2	OMIM:620727
HP:0002719	Recurrent infections	6573	SLC19A1	OMIM:620603
HP:0002719	Recurrent infections	50628	GEMIN4	OMIM:617913
HP:0002719	Recurrent infections	92344	GORAB	OMIM:231070
HP:0002719	Recurrent infections	4591	TRIM37	OMIM:253250
HP:0002719	Recurrent infections	7407	VARS1	OMIM:617802
HP:0002719	Recurrent infections	9138	ARHGEF1	OMIM:618459
HP:0002719	Recurrent infections	83483	PLVAP	OMIM:618183
HP:0002719	Recurrent infections	6448	SGSH	OMIM:252900
HP:0002719	Recurrent infections	84320	ACBD6	OMIM:620785
HP:0002719	Recurrent infections	411	ARSB	OMIM:253200
HP:0002719	Recurrent infections	6813	STXBP2	OMIM:613101
HP:0002719	Recurrent infections	57465	TBC1D24	ORPHA:352596
HP:0002719	Recurrent infections	4784	NFIX	OMIM:602535
HP:0002719	Recurrent infections	3953	LEPR	OMIM:614963
HP:0002719	Recurrent infections	3953	LEPR	ORPHA:179494
HP:0002719	Recurrent infections	2720	GLB1	OMIM:253010
HP:0002719	Recurrent infections	3055	HCK	OMIM:620296
HP:0002719	Recurrent infections	2588	GALNS	OMIM:253000
HP:0002719	Recurrent infections	6050	RNH1	OMIM:620461
HP:0002719	Recurrent infections	5340	PLG	OMIM:217090
HP:0002719	Recurrent infections	51341	ZBTB7A	OMIM:619769
HP:0002719	Recurrent infections	23247	KATNIP	OMIM:616784
HP:0002719	Recurrent infections	138050	HGSNAT	OMIM:252930
HP:0002719	Recurrent infections	7388	UQCRH	OMIM:620137
HP:0002719	Recurrent infections	4669	NAGLU	OMIM:252920
HP:0002719	Recurrent infections	54808	DYM	ORPHA:239
HP:0002719	Recurrent infections	3588	IL10RB	OMIM:612567
HP:0002719	Recurrent infections	6890	TAP1	OMIM:604571
HP:0002719	Recurrent infections	64864	RFX7	OMIM:620330
HP:0002719	Recurrent infections	686	BTD	ORPHA:79241
HP:0002719	Recurrent infections	23534	TNPO3	ORPHA:186
HP:0002719	Recurrent infections	3592	IL12A	ORPHA:186
HP:0002719	Recurrent infections	6689	SPIB	ORPHA:186
HP:0002719	Recurrent infections	5450	POU2AF1	ORPHA:186
HP:0002719	Recurrent infections	9966	TNFSF15	ORPHA:186
HP:0002719	Recurrent infections	79258	MMEL1	ORPHA:186
HP:0002719	Recurrent infections	3663	IRF5	ORPHA:186
HP:0002719	Recurrent infections	9636	ISG15	OMIM:616126
HP:0002719	Recurrent infections	253959	RALGAPA1	OMIM:618797
HP:0002719	Recurrent infections	3716	JAK1	OMIM:618999
HP:0002719	Recurrent infections	10379	IRF9	OMIM:618648
HP:0002719	Recurrent infections	1503	CTPS1	OMIM:615897
HP:0002719	Recurrent infections	165918	RNF168	ORPHA:420741
HP:0002719	Recurrent infections	57731	SPTBN4	OMIM:617519
HP:0002719	Recurrent infections	2321	FLT1	ORPHA:275555
HP:0002719	Recurrent infections	219736	STOX1	ORPHA:275555
HP:0002719	Recurrent infections	10699	CORIN	ORPHA:275555
HP:0002719	Recurrent infections	729	C6	OMIM:612446
HP:0002719	Recurrent infections	55630	SLC39A4	OMIM:201100
HP:0002719	Recurrent infections	10804	GJB6	ORPHA:477
HP:0002719	Recurrent infections	2706	GJB2	ORPHA:477
HP:0002719	Recurrent infections	2706	GJB2	OMIM:148210
HP:0002719	Recurrent infections	7390	UROS	ORPHA:79277
HP:0002719	Recurrent infections	2623	GATA1	ORPHA:79277
HP:0002719	Recurrent infections	2050	EPHB4	ORPHA:90186
HP:0002719	Recurrent infections	6868	ADAM17	ORPHA:294023
HP:0002719	Recurrent infections	1956	EGFR	ORPHA:294023
HP:0002719	Recurrent infections	7389	UROD	ORPHA:95159
HP:0002719	Recurrent infections	7037	TFRC	OMIM:616740
HP:0002719	Recurrent infections	60468	BACH2	OMIM:618394
HP:0002719	Recurrent infections	23545	ATP6V0A2	ORPHA:2834
HP:0002719	Recurrent infections	841	CASP8	OMIM:607271
HP:0002719	Recurrent infections	56259	CTNNBL1	OMIM:619846
HP:0002719	Recurrent infections	2859	GPR35	ORPHA:171
HP:0002719	Recurrent infections	10507	SEMA4D	ORPHA:171
HP:0002719	Recurrent infections	4485	MST1	ORPHA:171
HP:0002719	Recurrent infections	6925	TCF4	ORPHA:171
HP:0002719	Recurrent infections	730	C7	OMIM:610102
HP:0002719	Recurrent infections	732	C8B	OMIM:613789
HP:0002719	Recurrent infections	727	C5	OMIM:609536
HP:0002719	Recurrent infections	6901	TAFAZZIN	OMIM:302060
HP:0002719	Recurrent infections	3476	IGBP1	OMIM:300472
HP:0002719	Recurrent infections	4921	DDR2	OMIM:271665
HP:0002719	Recurrent infections	3763	KCNJ6	ORPHA:435628
HP:0002719	Recurrent infections	3763	KCNJ6	OMIM:614098
HP:0002719	Recurrent infections	5351	PLOD1	OMIM:225400
HP:0002719	Recurrent infections	5351	PLOD1	ORPHA:1900
HP:0002719	Recurrent infections	6477	SIAH1	OMIM:619314
HP:0002719	Recurrent infections	8425	LTBP4	OMIM:613177
HP:0002719	Recurrent infections	11133	KPTN	OMIM:615637
HP:0002719	Recurrent infections	11133	KPTN	ORPHA:397612
HP:0002719	Recurrent infections	57539	WDR35	OMIM:613610
HP:0002719	Recurrent infections	81857	MED25	OMIM:616449
HP:0002719	Recurrent infections	81857	MED25	ORPHA:464738
HP:0002719	Recurrent infections	755	CFAP410	OMIM:602271
HP:0002719	Recurrent infections	126792	B3GALT6	OMIM:609465
HP:0002719	Recurrent infections	6720	SREBF1	OMIM:158310
HP:0002719	Recurrent infections	1302	COL11A2	OMIM:215150
HP:0002719	Recurrent infections	23149	FCHO1	OMIM:619164
HP:0002719	Recurrent infections	10157	AASS	ORPHA:2203
HP:0002719	Recurrent infections	6440	SFTPC	OMIM:610913
HP:0002719	Recurrent infections	3417	IDH1	ORPHA:99646
HP:0002719	Recurrent infections	6904	TBCD	ORPHA:496641
HP:0002719	Recurrent infections	7084	TK2	ORPHA:254875
HP:0002719	Recurrent infections	8792	TNFRSF11A	OMIM:612301
HP:0002719	Recurrent infections	54681	P4HTM	OMIM:618493
HP:0002719	Recurrent infections	23594	ORC6	OMIM:613803
HP:0002719	Recurrent infections	26040	SETBP1	ORPHA:798
HP:0002719	Recurrent infections	2074	ERCC6	OMIM:214150
HP:0002719	Recurrent infections	2328	FMO3	OMIM:602079
HP:0002719	Recurrent infections	4796	TONSL	ORPHA:93357
HP:0002719	Recurrent infections	5317	PKP1	ORPHA:158668
HP:0002719	Recurrent infections	54941	RNF125	OMIM:616260
HP:0002719	Recurrent infections	10747	MASP2	OMIM:613791
HP:0002719	Recurrent infections	84466	MEGF10	OMIM:620249
HP:0002719	Recurrent infections	79645	CLXN	OMIM:620642
HP:0002719	Recurrent infections	57728	WDR19	OMIM:614378
HP:0002719	Recurrent infections	871	SERPINH1	OMIM:613848
HP:0002719	Recurrent infections	55294	FBXW7	OMIM:620012
HP:0002719	Recurrent infections	5813	PURA	ORPHA:314655
HP:0002719	Recurrent infections	2212	FCGR2A	OMIM:219700
HP:0002719	Recurrent infections	28956	LAMTOR2	OMIM:610798
HP:0002719	Recurrent infections	28956	LAMTOR2	ORPHA:90023
HP:0002719	Recurrent infections	1290	COL5A2	OMIM:130010
HP:0002719	Recurrent infections	10625	IVNS1ABP	OMIM:618969
HP:0002719	Recurrent infections	4194	MDM4	OMIM:618849
HP:0002719	Recurrent infections	6340	SCNN1G	ORPHA:171876
HP:0002719	Recurrent infections	6338	SCNN1B	ORPHA:171876
HP:0002719	Recurrent infections	219972	MPEG1	OMIM:619223
HP:0002719	Recurrent infections	90268	OTULIN	OMIM:619986
HP:0002719	Recurrent infections	3459	IFNGR1	OMIM:615978
HP:0002719	Recurrent infections	3460	IFNGR2	OMIM:614889
HP:0002719	Recurrent infections	6097	RORC	OMIM:616622
HP:0002719	Recurrent infections	84196	USP48	ORPHA:96253
HP:0002719	Recurrent infections	7157	TP53	ORPHA:96253
HP:0002719	Recurrent infections	9101	USP8	ORPHA:96253
HP:0002719	Recurrent infections	64072	CDH23	ORPHA:96253
HP:0002719	Recurrent infections	2908	NR3C1	ORPHA:96253
HP:0002719	Recurrent infections	65055	REEP1	OMIM:620011
HP:0002719	Recurrent infections	5339	PLEC	ORPHA:254361
HP:0002719	Recurrent infections	5832	ALDH18A1	ORPHA:90348
HP:0002719	Recurrent infections	64170	CARD9	OMIM:212050
HP:0002719	Recurrent infections	3848	KRT1	ORPHA:530838
HP:0002719	Recurrent infections	545	ATR	OMIM:614564
HP:0002719	Recurrent infections	3248	HPGD	ORPHA:217059
HP:0002719	Recurrent infections	3579	CXCR2	OMIM:619407
HP:0002719	Recurrent infections	8974	P4HA2	ORPHA:397
HP:0002719	Recurrent infections	55315	SLC29A3	ORPHA:168569
HP:0002719	Recurrent infections	7132	TNFRSF1A	ORPHA:32960
HP:0002719	Recurrent infections	55851	PSENEN	OMIM:613736
HP:0002719	Recurrent infections	5663	PSEN1	OMIM:613737
HP:0002719	Recurrent infections	2737	GLI3	ORPHA:672
HP:0002719	Recurrent infections	4247	MGAT2	ORPHA:79329
HP:0002719	Recurrent infections	29969	MDFIC	OMIM:620014
HP:0002719	Recurrent infections	55777	MBD5	OMIM:156200
HP:0002719	Recurrent infections	1650	DDOST	ORPHA:300536
HP:0002719	Recurrent infections	1650	DDOST	OMIM:614507
HP:0002719	Recurrent infections	3952	LEP	OMIM:614962
HP:0002719	Recurrent infections	4953	ODC1	ORPHA:544488
HP:0002719	Recurrent infections	2273	FHL1	OMIM:300280
HP:0005979	Metabolic ketoacidosis	686	BTD	OMIM:253260
HP:0005979	Metabolic ketoacidosis	686	BTD	ORPHA:79241
HP:0005979	Metabolic ketoacidosis	3172	HNF4A	ORPHA:263455
HP:0005979	Metabolic ketoacidosis	4594	MMUT	OMIM:251000
HP:0005979	Metabolic ketoacidosis	1537	CYC1	OMIM:615453
HP:0005972	Respiratory acidosis	3675	ITGA3	OMIM:614748
HP:0005972	Respiratory acidosis	78987	CRELD1	OMIM:620771
HP:0005973	Fructose intolerance	229	ALDOB	OMIM:229600
HP:0005974	Episodic ketoacidosis	38	ACAT1	OMIM:203750
HP:0005974	Episodic ketoacidosis	5019	OXCT1	OMIM:245050
HP:0005974	Episodic ketoacidosis	1537	CYC1	OMIM:615453
HP:0005974	Episodic ketoacidosis	6473	SHOX	ORPHA:314795
HP:0000859	Increased circulating aldosterone concentration	6337	SCNN1A	OMIM:264350
HP:0000859	Increased circulating aldosterone concentration	7809	BSND	ORPHA:89938
HP:0000859	Increased circulating aldosterone concentration	7809	BSND	OMIM:602522
HP:0000859	Increased circulating aldosterone concentration	1188	CLCNKB	ORPHA:89938
HP:0000859	Increased circulating aldosterone concentration	1188	CLCNKB	OMIM:613090
HP:0000859	Increased circulating aldosterone concentration	1188	CLCNKB	OMIM:607364
HP:0000859	Increased circulating aldosterone concentration	1187	CLCNKA	ORPHA:89938
HP:0000859	Increased circulating aldosterone concentration	1187	CLCNKA	OMIM:613090
HP:0000859	Increased circulating aldosterone concentration	3766	KCNJ10	OMIM:612780
HP:0000859	Increased circulating aldosterone concentration	3766	KCNJ10	ORPHA:199343
HP:0000859	Increased circulating aldosterone concentration	3762	KCNJ5	OMIM:613677
HP:0000859	Increased circulating aldosterone concentration	3762	KCNJ5	ORPHA:37553
HP:0000859	Increased circulating aldosterone concentration	3643	INSR	ORPHA:508
HP:0000859	Increased circulating aldosterone concentration	6340	SCNN1G	OMIM:620126
HP:0000859	Increased circulating aldosterone concentration	6338	SCNN1B	OMIM:620125
HP:0000859	Increased circulating aldosterone concentration	84133	ZNRF3	ORPHA:1501
HP:0000859	Increased circulating aldosterone concentration	7157	TP53	ORPHA:1501
HP:0000859	Increased circulating aldosterone concentration	5573	PRKAR1A	ORPHA:1501
HP:0000859	Increased circulating aldosterone concentration	1499	CTNNB1	ORPHA:1501
HP:0000859	Increased circulating aldosterone concentration	1029	CDKN2A	ORPHA:1501
HP:0000859	Increased circulating aldosterone concentration	7015	TERT	ORPHA:1501
HP:0000859	Increased circulating aldosterone concentration	1181	CLCN2	OMIM:605635
HP:0000859	Increased circulating aldosterone concentration	6557	SLC12A1	OMIM:601678
HP:0000859	Increased circulating aldosterone concentration	776	CACNA1D	ORPHA:369929
HP:0000859	Increased circulating aldosterone concentration	3758	KCNJ1	OMIM:241200
HP:0000859	Increased circulating aldosterone concentration	4306	NR3C2	OMIM:177735
HP:0000859	Increased circulating aldosterone concentration	79798	ARMC5	ORPHA:189427
HP:0000859	Increased circulating aldosterone concentration	23028	KDM1A	ORPHA:189427
HP:0000859	Increased circulating aldosterone concentration	2778	GNAS	ORPHA:189427
HP:0000859	Increased circulating aldosterone concentration	8912	CACNA1H	OMIM:617027
HP:0000859	Increased circulating aldosterone concentration	1583	CYP11A1	OMIM:613743
HP:0000859	Increased circulating aldosterone concentration	1811	SLC26A3	OMIM:214700
HP:0000859	Increased circulating aldosterone concentration	3773	KCNJ16	OMIM:619406
HP:0000859	Increased circulating aldosterone concentration	1584	CYP11B1	OMIM:103900
HP:0000859	Increased circulating aldosterone concentration	4952	OCRL	ORPHA:534
HP:0000859	Increased circulating aldosterone concentration	3759	KCNJ2	ORPHA:37553
HP:0000859	Increased circulating aldosterone concentration	6559	SLC12A3	ORPHA:358
HP:0000859	Increased circulating aldosterone concentration	1585	CYP11B2	ORPHA:403
HP:0005976	Hyperkalemic metabolic acidosis	27130	INVS	OMIM:602088
HP:0005977	Hypochloremic metabolic alkalosis	1187	CLCNKA	OMIM:613090
HP:0005977	Hypochloremic metabolic alkalosis	1188	CLCNKB	OMIM:613090
HP:0005977	Hypochloremic metabolic alkalosis	7809	BSND	OMIM:602522
HP:0005977	Hypochloremic metabolic alkalosis	54938	SARS2	OMIM:613845
HP:0002720	Decreased circulating IgA concentration	3561	IL2RG	ORPHA:276
HP:0002720	Decreased circulating IgA concentration	3561	IL2RG	OMIM:300400
HP:0002720	Decreased circulating IgA concentration	64421	DCLRE1C	ORPHA:275
HP:0002720	Decreased circulating IgA concentration	695	BTK	OMIM:300755
HP:0002720	Decreased circulating IgA concentration	5993	RFX5	OMIM:620818
HP:0002720	Decreased circulating IgA concentration	5993	RFX5	OMIM:620816
HP:0002720	Decreased circulating IgA concentration	1493	CTLA4	ORPHA:436159
HP:0002720	Decreased circulating IgA concentration	1493	CTLA4	OMIM:616100
HP:0002720	Decreased circulating IgA concentration	5994	RFXAP	OMIM:620817
HP:0002720	Decreased circulating IgA concentration	3932	LCK	OMIM:615758
HP:0002720	Decreased circulating IgA concentration	6948	TCN2	OMIM:275350
HP:0002720	Decreased circulating IgA concentration	6948	TCN2	ORPHA:859
HP:0002720	Decreased circulating IgA concentration	987	LRBA	OMIM:614700
HP:0002720	Decreased circulating IgA concentration	959	CD40LG	OMIM:308230
HP:0002720	Decreased circulating IgA concentration	5293	PIK3CD	OMIM:619281
HP:0002720	Decreased circulating IgA concentration	57379	AICDA	OMIM:605258
HP:0002720	Decreased circulating IgA concentration	84433	CARD11	OMIM:616452
HP:0002720	Decreased circulating IgA concentration	5424	POLD1	OMIM:620836
HP:0002720	Decreased circulating IgA concentration	841	CASP8	OMIM:607271
HP:0002720	Decreased circulating IgA concentration	8085	KMT2D	ORPHA:2322
HP:0002720	Decreased circulating IgA concentration	8085	KMT2D	OMIM:147920
HP:0002720	Decreased circulating IgA concentration	7403	KDM6A	ORPHA:2322
HP:0002720	Decreased circulating IgA concentration	7403	KDM6A	OMIM:147920
HP:0002720	Decreased circulating IgA concentration	472	ATM	OMIM:208900
HP:0002720	Decreased circulating IgA concentration	3543	IGLL1	OMIM:613500
HP:0002720	Decreased circulating IgA concentration	2314	FLII	ORPHA:819
HP:0002720	Decreased circulating IgA concentration	23096	IQSEC2	ORPHA:819
HP:0002720	Decreased circulating IgA concentration	10743	RAI1	ORPHA:819
HP:0002720	Decreased circulating IgA concentration	10522	DEAF1	ORPHA:819
HP:0002720	Decreased circulating IgA concentration	29760	BLNK	OMIM:613502
HP:0002720	Decreased circulating IgA concentration	868	CBLB	OMIM:620430
HP:0002720	Decreased circulating IgA concentration	29927	SEC61A1	OMIM:620670
HP:0002720	Decreased circulating IgA concentration	7298	TYMS	OMIM:620040
HP:0002720	Decreased circulating IgA concentration	115650	TNFRSF13C	OMIM:240500
HP:0002720	Decreased circulating IgA concentration	29851	ICOS	OMIM:240500
HP:0002720	Decreased circulating IgA concentration	29851	ICOS	OMIM:607594
HP:0002720	Decreased circulating IgA concentration	930	CD19	OMIM:240500
HP:0002720	Decreased circulating IgA concentration	930	CD19	OMIM:613493
HP:0002720	Decreased circulating IgA concentration	23495	TNFRSF13B	OMIM:240500
HP:0002720	Decreased circulating IgA concentration	23495	TNFRSF13B	OMIM:609529
HP:0002720	Decreased circulating IgA concentration	1380	CR2	OMIM:240500
HP:0002720	Decreased circulating IgA concentration	1380	CR2	OMIM:614699
HP:0002720	Decreased circulating IgA concentration	84876	ORAI1	OMIM:612782
HP:0002720	Decreased circulating IgA concentration	5896	RAG1	ORPHA:331206
HP:0002720	Decreased circulating IgA concentration	5897	RAG2	ORPHA:331206
HP:0002720	Decreased circulating IgA concentration	9020	MAP3K14	OMIM:620449
HP:0002720	Decreased circulating IgA concentration	6786	STIM1	OMIM:612783
HP:0002720	Decreased circulating IgA concentration	8792	TNFRSF11A	OMIM:612301
HP:0002720	Decreased circulating IgA concentration	3117	HLA-DQA1	OMIM:212750
HP:0002720	Decreased circulating IgA concentration	3119	HLA-DQB1	OMIM:212750
HP:0002720	Decreased circulating IgA concentration	7841	MOGS	OMIM:606056
HP:0002720	Decreased circulating IgA concentration	7841	MOGS	ORPHA:79330
HP:0002720	Decreased circulating IgA concentration	79087	ALG12	OMIM:607143
HP:0002720	Decreased circulating IgA concentration	7374	UNG	OMIM:608106
HP:0002720	Decreased circulating IgA concentration	958	CD40	OMIM:606843
HP:0002720	Decreased circulating IgA concentration	10815	CPLX1	ORPHA:280
HP:0002720	Decreased circulating IgA concentration	54872	PIGG	ORPHA:280
HP:0002720	Decreased circulating IgA concentration	7469	NELFA	ORPHA:280
HP:0002720	Decreased circulating IgA concentration	1487	CTBP1	ORPHA:280
HP:0002720	Decreased circulating IgA concentration	3954	LETM1	ORPHA:280
HP:0002720	Decreased circulating IgA concentration	7468	NSD2	ORPHA:280
HP:0002720	Decreased circulating IgA concentration	2475	MTOR	ORPHA:457485
HP:0002720	Decreased circulating IgA concentration	2475	MTOR	OMIM:616638
HP:0002720	Decreased circulating IgA concentration	6773	STAT2	OMIM:616636
HP:0002720	Decreased circulating IgA concentration	8517	IKBKG	ORPHA:98813
HP:0002720	Decreased circulating IgA concentration	4792	NFKBIA	ORPHA:98813
HP:0002720	Decreased circulating IgA concentration	5373	PMM2	OMIM:212065
HP:0002720	Decreased circulating IgA concentration	1789	DNMT3B	OMIM:242860
HP:0002720	Decreased circulating IgA concentration	10043	TOM1	OMIM:619510
HP:0002720	Decreased circulating IgA concentration	3572	IL6ST	OMIM:619752
HP:0002720	Decreased circulating IgA concentration	10526	IPO8	OMIM:619472
HP:0002720	Decreased circulating IgA concentration	51604	PIGT	ORPHA:369837
HP:0002720	Decreased circulating IgA concentration	5295	PIK3R1	OMIM:616005
HP:0002720	Decreased circulating IgA concentration	9841	ZBTB24	OMIM:614069
HP:0002720	Decreased circulating IgA concentration	54440	SASH3	OMIM:301082
HP:0002720	Decreased circulating IgA concentration	1457	CSNK2A1	OMIM:617062
HP:0002720	Decreased circulating IgA concentration	60468	BACH2	OMIM:618394
HP:0002720	Decreased circulating IgA concentration	83737	ITCH	OMIM:613385
HP:0002720	Decreased circulating IgA concentration	974	CD79B	OMIM:612692
HP:0002720	Decreased circulating IgA concentration	5788	PTPRC	OMIM:619924
HP:0002720	Decreased circulating IgA concentration	4780	NFE2L2	OMIM:617744
HP:0002720	Decreased circulating IgA concentration	641	BLM	OMIM:210900
HP:0002720	Decreased circulating IgA concentration	641	BLM	ORPHA:125
HP:0002720	Decreased circulating IgA concentration	5336	PLCG2	OMIM:614878
HP:0002720	Decreased circulating IgA concentration	5294	PIK3CG	OMIM:619802
HP:0002720	Decreased circulating IgA concentration	84905	ZNF341	OMIM:618282
HP:0002720	Decreased circulating IgA concentration	5966	REL	OMIM:619652
HP:0002720	Decreased circulating IgA concentration	139818	DOCK11	OMIM:301109
HP:0002720	Decreased circulating IgA concentration	3978	LIG1	OMIM:619774
HP:0002720	Decreased circulating IgA concentration	27040	LAT	OMIM:617514
HP:0002720	Decreased circulating IgA concentration	4791	NFKB2	OMIM:615577
HP:0002720	Decreased circulating IgA concentration	100	ADA	OMIM:102700
HP:0002720	Decreased circulating IgA concentration	5557	PRIM1	OMIM:620005
HP:0002720	Decreased circulating IgA concentration	3514	IGKC	ORPHA:183675
HP:0002720	Decreased circulating IgA concentration	3501	IGHG2	ORPHA:183675
HP:0002720	Decreased circulating IgA concentration	5699	PSMB10	OMIM:620807
HP:0002720	Decreased circulating IgA concentration	359948	IRF2BP2	OMIM:617765
HP:0002720	Decreased circulating IgA concentration	6688	SPI1	OMIM:619707
HP:0002720	Decreased circulating IgA concentration	284119	CAVIN1	OMIM:613327
HP:0002720	Decreased circulating IgA concentration	6929	TCF3	OMIM:619824
HP:0002720	Decreased circulating IgA concentration	3559	IL2RA	OMIM:606367
HP:0002720	Decreased circulating IgA concentration	165918	RNF168	ORPHA:420741
HP:0002720	Decreased circulating IgA concentration	4067	LYN	OMIM:620376
HP:0002720	Decreased circulating IgA concentration	6850	SYK	OMIM:619381
HP:0002720	Decreased circulating IgA concentration	10625	IVNS1ABP	OMIM:618969
HP:0002720	Decreased circulating IgA concentration	916	CD3E	OMIM:615615
HP:0002720	Decreased circulating IgA concentration	916	CD3E	ORPHA:169160
HP:0002720	Decreased circulating IgA concentration	915	CD3D	ORPHA:169160
HP:0002720	Decreased circulating IgA concentration	919	CD247	ORPHA:169160
HP:0002720	Decreased circulating IgA concentration	537	ATP6AP1	OMIM:300972
HP:0002720	Decreased circulating IgA concentration	90417	KNSTRN	ORPHA:221139
HP:0002720	Decreased circulating IgA concentration	3718	JAK3	ORPHA:35078
HP:0002721	Immunodeficiency	64170	CARD9	OMIM:212050
HP:0002721	Immunodeficiency	51750	RTEL1	OMIM:615190
HP:0002721	Immunodeficiency	51750	RTEL1	ORPHA:3322
HP:0002721	Immunodeficiency	3551	IKBKB	OMIM:615592
HP:0002721	Immunodeficiency	55388	MCM10	OMIM:619313
HP:0002721	Immunodeficiency	7293	TNFRSF4	OMIM:615593
HP:0002721	Immunodeficiency	8517	IKBKG	OMIM:300636
HP:0002721	Immunodeficiency	8517	IKBKG	OMIM:300291
HP:0002721	Immunodeficiency	331	XIAP	OMIM:300635
HP:0002721	Immunodeficiency	331	XIAP	OMIM:308240
HP:0002721	Immunodeficiency	331	XIAP	ORPHA:538934
HP:0002721	Immunodeficiency	4688	NCF2	OMIM:233710
HP:0002721	Immunodeficiency	3932	LCK	OMIM:615758
HP:0002721	Immunodeficiency	5293	PIK3CD	OMIM:615513
HP:0002721	Immunodeficiency	118429	ANTXR2	ORPHA:2176
HP:0002721	Immunodeficiency	987	LRBA	OMIM:614700
HP:0002721	Immunodeficiency	7518	XRCC4	ORPHA:99812
HP:0002721	Immunodeficiency	7518	XRCC4	OMIM:616541
HP:0002721	Immunodeficiency	3981	LIG4	ORPHA:99812
HP:0002721	Immunodeficiency	79083	MLPH	OMIM:609227
HP:0002721	Immunodeficiency	1736	DKC1	OMIM:305000
HP:0002721	Immunodeficiency	1736	DKC1	ORPHA:3322
HP:0002721	Immunodeficiency	9094	UNC119	OMIM:615518
HP:0002721	Immunodeficiency	959	CD40LG	OMIM:308230
HP:0002721	Immunodeficiency	113235	SLC46A1	ORPHA:90045
HP:0002721	Immunodeficiency	4125	MAN2B1	ORPHA:309282
HP:0002721	Immunodeficiency	4125	MAN2B1	ORPHA:309288
HP:0002721	Immunodeficiency	57379	AICDA	OMIM:605258
HP:0002721	Immunodeficiency	9051	PSTPIP1	OMIM:601979
HP:0002721	Immunodeficiency	613	BCR	ORPHA:261330
HP:0002721	Immunodeficiency	1399	CRKL	ORPHA:261330
HP:0002721	Immunodeficiency	5594	MAPK1	ORPHA:261330
HP:0002721	Immunodeficiency	11151	CORO1A	OMIM:615401
HP:0002721	Immunodeficiency	10525	HYOU1	OMIM:233600
HP:0002721	Immunodeficiency	166378	AFG2A	OMIM:616577
HP:0002721	Immunodeficiency	166378	AFG2A	ORPHA:457351
HP:0002721	Immunodeficiency	998	CDC42	OMIM:616737
HP:0002721	Immunodeficiency	998	CDC42	ORPHA:487796
HP:0002721	Immunodeficiency	51135	IRAK4	OMIM:607676
HP:0002721	Immunodeficiency	51135	IRAK4	ORPHA:70592
HP:0002721	Immunodeficiency	4068	SH2D1A	OMIM:308240
HP:0002721	Immunodeficiency	79840	NHEJ1	ORPHA:169079
HP:0002721	Immunodeficiency	134218	DNAJC21	ORPHA:811
HP:0002721	Immunodeficiency	79631	EFL1	ORPHA:811
HP:0002721	Immunodeficiency	51119	SBDS	ORPHA:811
HP:0002721	Immunodeficiency	8029	CUBN	ORPHA:35858
HP:0002721	Immunodeficiency	81693	AMN	ORPHA:35858
HP:0002721	Immunodeficiency	84196	USP48	ORPHA:96253
HP:0002721	Immunodeficiency	7157	TP53	ORPHA:96253
HP:0002721	Immunodeficiency	9101	USP8	ORPHA:96253
HP:0002721	Immunodeficiency	64072	CDH23	ORPHA:96253
HP:0002721	Immunodeficiency	2908	NR3C1	ORPHA:96253
HP:0002721	Immunodeficiency	673	BRAF	ORPHA:96253
HP:0002721	Immunodeficiency	546	ATRX	ORPHA:96253
HP:0002721	Immunodeficiency	546	ATRX	ORPHA:231401
HP:0002721	Immunodeficiency	51360	MBTPS2	ORPHA:2273
HP:0002721	Immunodeficiency	6772	STAT1	OMIM:614162
HP:0002721	Immunodeficiency	6772	STAT1	ORPHA:391487
HP:0002721	Immunodeficiency	6772	STAT1	OMIM:614892
HP:0002721	Immunodeficiency	84061	MAGT1	OMIM:300853
HP:0002721	Immunodeficiency	7037	TFRC	OMIM:616740
HP:0002721	Immunodeficiency	1493	CTLA4	OMIM:616100
HP:0002721	Immunodeficiency	1493	CTLA4	ORPHA:3162
HP:0002721	Immunodeficiency	3394	IRF8	OMIM:226990
HP:0002721	Immunodeficiency	3394	IRF8	OMIM:614893
HP:0002721	Immunodeficiency	84876	ORAI1	OMIM:612782
HP:0002721	Immunodeficiency	1503	CTPS1	OMIM:615897
HP:0002721	Immunodeficiency	6573	SLC19A1	OMIM:620603
HP:0002721	Immunodeficiency	3665	IRF7	OMIM:616345
HP:0002721	Immunodeficiency	10616	RBCK1	OMIM:615895
HP:0002721	Immunodeficiency	6786	STIM1	OMIM:612783
HP:0002721	Immunodeficiency	6499	SKIC2	OMIM:614602
HP:0002721	Immunodeficiency	6499	SKIC2	ORPHA:84064
HP:0002721	Immunodeficiency	5426	POLE	OMIM:615139
HP:0002721	Immunodeficiency	5426	POLE	OMIM:618336
HP:0002721	Immunodeficiency	84823	LMNB2	ORPHA:79087
HP:0002721	Immunodeficiency	5238	PGM3	OMIM:615816
HP:0002721	Immunodeficiency	3431	SP110	OMIM:235550
HP:0002721	Immunodeficiency	10092	ARPC5	OMIM:620565
HP:0002721	Immunodeficiency	1312	COMT	ORPHA:567
HP:0002721	Immunodeficiency	221037	JMJD1C	ORPHA:567
HP:0002721	Immunodeficiency	2812	GP1BB	ORPHA:567
HP:0002721	Immunodeficiency	6239	RREB1	ORPHA:567
HP:0002721	Immunodeficiency	6899	TBX1	ORPHA:567
HP:0002721	Immunodeficiency	7290	HIRA	ORPHA:567
HP:0002721	Immunodeficiency	9632	SEC24C	ORPHA:567
HP:0002721	Immunodeficiency	7353	UFD1	ORPHA:567
HP:0002721	Immunodeficiency	421	ARVCF	ORPHA:567
HP:0002721	Immunodeficiency	28956	LAMTOR2	ORPHA:90023
HP:0002721	Immunodeficiency	28956	LAMTOR2	OMIM:610798
HP:0002721	Immunodeficiency	1130	LYST	ORPHA:167
HP:0002721	Immunodeficiency	1130	LYST	ORPHA:352723
HP:0002721	Immunodeficiency	60	ACTB	ORPHA:79107
HP:0002721	Immunodeficiency	7374	UNG	OMIM:608106
HP:0002721	Immunodeficiency	958	CD40	OMIM:606843
HP:0002721	Immunodeficiency	1105	CHD1	OMIM:617682
HP:0002721	Immunodeficiency	1105	CHD1	ORPHA:529965
HP:0002721	Immunodeficiency	2624	GATA2	OMIM:614172
HP:0002721	Immunodeficiency	5631	PRPS1	OMIM:301835
HP:0002721	Immunodeficiency	3043	HBB	ORPHA:231249
HP:0002721	Immunodeficiency	3560	IL2RB	OMIM:618495
HP:0002721	Immunodeficiency	29128	UHRF1	ORPHA:2268
HP:0002721	Immunodeficiency	3070	HELLS	ORPHA:2268
HP:0002721	Immunodeficiency	1789	DNMT3B	ORPHA:2268
HP:0002721	Immunodeficiency	1789	DNMT3B	OMIM:242860
HP:0002721	Immunodeficiency	83879	CDCA7	ORPHA:2268
HP:0002721	Immunodeficiency	9841	ZBTB24	ORPHA:2268
HP:0002721	Immunodeficiency	9841	ZBTB24	OMIM:614069
HP:0002721	Immunodeficiency	90268	OTULIN	OMIM:619986
HP:0002721	Immunodeficiency	23495	TNFRSF13B	ORPHA:1572
HP:0002721	Immunodeficiency	4790	NFKB1	ORPHA:1572
HP:0002721	Immunodeficiency	4791	NFKB2	ORPHA:1572
HP:0002721	Immunodeficiency	115650	TNFRSF13C	ORPHA:1572
HP:0002721	Immunodeficiency	1380	CR2	ORPHA:1572
HP:0002721	Immunodeficiency	8742	TNFSF12	ORPHA:1572
HP:0002721	Immunodeficiency	930	CD19	ORPHA:1572
HP:0002721	Immunodeficiency	29851	ICOS	ORPHA:1572
HP:0002721	Immunodeficiency	29851	ICOS	OMIM:607594
HP:0002721	Immunodeficiency	931	MS4A1	ORPHA:1572
HP:0002721	Immunodeficiency	975	CD81	ORPHA:1572
HP:0002721	Immunodeficiency	359948	IRF2BP2	ORPHA:1572
HP:0002721	Immunodeficiency	653361	NCF1	OMIM:233700
HP:0002721	Immunodeficiency	7468	NSD2	OMIM:194190
HP:0002721	Immunodeficiency	10815	CPLX1	OMIM:194190
HP:0002721	Immunodeficiency	1487	CTBP1	OMIM:194190
HP:0002721	Immunodeficiency	53834	FGFRL1	OMIM:194190
HP:0002721	Immunodeficiency	3954	LETM1	OMIM:194190
HP:0002721	Immunodeficiency	2214	FCGR3A	OMIM:615707
HP:0002721	Immunodeficiency	91039	DPP9	OMIM:620331
HP:0002721	Immunodeficiency	5873	RAB27A	ORPHA:79477
HP:0002721	Immunodeficiency	8943	AP3D1	OMIM:617050
HP:0002721	Immunodeficiency	57003	CCDC47	OMIM:618268
HP:0002721	Immunodeficiency	23126	POGZ	OMIM:616364
HP:0002721	Immunodeficiency	4609	MYC	OMIM:113970
HP:0002721	Immunodeficiency	9636	ISG15	OMIM:616126
HP:0002721	Immunodeficiency	5295	PIK3R1	OMIM:616005
HP:0002721	Immunodeficiency	5295	PIK3R1	ORPHA:33110
HP:0002721	Immunodeficiency	7454	WAS	ORPHA:906
HP:0002721	Immunodeficiency	7456	WIPF1	ORPHA:906
HP:0002721	Immunodeficiency	6789	STK4	OMIM:614868
HP:0002721	Immunodeficiency	56052	ALG1	ORPHA:79327
HP:0002721	Immunodeficiency	472	ATM	ORPHA:100
HP:0002721	Immunodeficiency	8915	BCL10	OMIM:616098
HP:0002721	Immunodeficiency	374879	ZNF699	OMIM:619488
HP:0002721	Immunodeficiency	4780	NFE2L2	OMIM:617744
HP:0002721	Immunodeficiency	51816	ADA2	OMIM:615688
HP:0002721	Immunodeficiency	50615	IL21R	OMIM:615207
HP:0002721	Immunodeficiency	7297	TYK2	OMIM:611521
HP:0002721	Immunodeficiency	8450	CUL4B	ORPHA:85293
HP:0002721	Immunodeficiency	55072	RNF31	OMIM:620632
HP:0002721	Immunodeficiency	84433	CARD11	OMIM:615206
HP:0002721	Immunodeficiency	917	CD3G	OMIM:615607
HP:0002721	Immunodeficiency	5896	RAG1	ORPHA:231154
HP:0002721	Immunodeficiency	695	BTK	ORPHA:47
HP:0002721	Immunodeficiency	5880	RAC2	ORPHA:183707
HP:0002721	Immunodeficiency	57724	EPG5	OMIM:242840
HP:0002721	Immunodeficiency	23387	SIK3	OMIM:618162
HP:0002721	Immunodeficiency	940	CD28	ORPHA:3162
HP:0002721	Immunodeficiency	7133	TNFRSF1B	ORPHA:3162
HP:0002721	Immunodeficiency	3937	LCP2	OMIM:619374
HP:0002721	Immunodeficiency	27040	LAT	OMIM:617514
HP:0002721	Immunodeficiency	919	CD247	OMIM:610163
HP:0002721	Immunodeficiency	10625	IVNS1ABP	OMIM:618969
HP:0002721	Immunodeficiency	5297	PI4KA	ORPHA:436252
HP:0002721	Immunodeficiency	5297	PI4KA	OMIM:619708
HP:0002721	Immunodeficiency	57217	TTC7A	ORPHA:436252
HP:0002721	Immunodeficiency	916	CD3E	OMIM:615615
HP:0002721	Immunodeficiency	3459	IFNGR1	OMIM:615978
HP:0002721	Immunodeficiency	3460	IFNGR2	OMIM:614889
HP:0002721	Immunodeficiency	775	CACNA1C	OMIM:618447
HP:0002721	Immunodeficiency	1535	CYBA	OMIM:233690
HP:0002721	Immunodeficiency	3594	IL12RB1	ORPHA:319552
HP:0002721	Immunodeficiency	3594	IL12RB1	OMIM:614891
HP:0002721	Immunodeficiency	65057	ACD	ORPHA:3322
HP:0002721	Immunodeficiency	5073	PARN	ORPHA:3322
HP:0002721	Immunodeficiency	7015	TERT	ORPHA:3322
HP:0002721	Immunodeficiency	26277	TINF2	ORPHA:3322
HP:0002721	Immunodeficiency	29110	TBK1	OMIM:620880
HP:0002721	Immunodeficiency	29110	TBK1	ORPHA:1930
HP:0002721	Immunodeficiency	178	AGL	ORPHA:366
HP:0002721	Immunodeficiency	1536	CYBB	OMIM:306400
HP:0002721	Immunodeficiency	8456	FOXN1	ORPHA:169095
HP:0002721	Immunodeficiency	5699	PSMB10	OMIM:620807
HP:0002721	Immunodeficiency	3593	IL12B	OMIM:614890
HP:0002721	Immunodeficiency	10892	MALT1	OMIM:615468
HP:0002721	Immunodeficiency	9652	SKIC3	ORPHA:84064
HP:0002721	Immunodeficiency	4212	MEIS2	ORPHA:261190
HP:0002721	Immunodeficiency	165918	RNF168	OMIM:611943
HP:0002721	Immunodeficiency	165918	RNF168	ORPHA:420741
HP:0002721	Immunodeficiency	64858	DCLRE1B	OMIM:620133
HP:0002721	Immunodeficiency	3559	IL2RA	OMIM:606367
HP:0002721	Immunodeficiency	4594	MMUT	ORPHA:79312
HP:0002721	Immunodeficiency	6023	RMRP	OMIM:250460
HP:0002721	Immunodeficiency	6929	TCF3	ORPHA:33110
HP:0002721	Immunodeficiency	7922	SLC39A7	ORPHA:33110
HP:0002721	Immunodeficiency	973	CD79A	ORPHA:33110
HP:0002721	Immunodeficiency	974	CD79B	ORPHA:33110
HP:0002721	Immunodeficiency	6688	SPI1	ORPHA:33110
HP:0002721	Immunodeficiency	3543	IGLL1	ORPHA:33110
HP:0002721	Immunodeficiency	3507	IGHM	ORPHA:33110
HP:0002721	Immunodeficiency	29760	BLNK	ORPHA:33110
HP:0002721	Immunodeficiency	56262	LRRC8A	ORPHA:33110
HP:0002721	Immunodeficiency	7187	TRAF3	ORPHA:1930
HP:0002721	Immunodeficiency	81622	UNC93B1	ORPHA:1930
HP:0002721	Immunodeficiency	148022	TICAM1	ORPHA:1930
HP:0002721	Immunodeficiency	7098	TLR3	ORPHA:1930
HP:0002721	Immunodeficiency	4522	MTHFD1	OMIM:617780
HP:0002721	Immunodeficiency	3718	JAK3	OMIM:600802
HP:0002721	Immunodeficiency	100	ADA	OMIM:102700
HP:0002721	Immunodeficiency	100	ADA	ORPHA:39041
HP:0002721	Immunodeficiency	64919	BCL11B	OMIM:617237
HP:0002721	Immunodeficiency	5591	PRKDC	OMIM:615966
HP:0002721	Immunodeficiency	55636	CHD7	ORPHA:39041
HP:0002721	Immunodeficiency	64421	DCLRE1C	ORPHA:39041
HP:0002721	Immunodeficiency	64421	DCLRE1C	OMIM:602450
HP:0002721	Immunodeficiency	3575	IL7R	ORPHA:39041
HP:0002721	Immunodeficiency	3575	IL7R	OMIM:608971
HP:0002721	Immunodeficiency	915	CD3D	OMIM:615617
HP:0002721	Immunodeficiency	50485	SMARCAL1	ORPHA:1830
HP:0002721	Immunodeficiency	2137	EXTL3	OMIM:617425
HP:0002721	Immunodeficiency	80144	FRAS1	OMIM:219000
HP:0002721	Immunodeficiency	4860	PNP	ORPHA:760
HP:0002721	Immunodeficiency	1387	CREBBP	ORPHA:353277
HP:0002721	Immunodeficiency	1387	CREBBP	ORPHA:353281
HP:0002721	Immunodeficiency	2033	EP300	ORPHA:353284
HP:0002721	Immunodeficiency	10483	SEC23B	ORPHA:201
HP:0002721	Immunodeficiency	5728	PTEN	ORPHA:201
HP:0002721	Immunodeficiency	6390	SDHB	ORPHA:201
HP:0002721	Immunodeficiency	6392	SDHD	ORPHA:201
HP:0002721	Immunodeficiency	6391	SDHC	ORPHA:201
HP:0002721	Immunodeficiency	207	AKT1	ORPHA:201
HP:0002721	Immunodeficiency	205717	USF3	ORPHA:201
HP:0002721	Immunodeficiency	5290	PIK3CA	ORPHA:201
HP:0002721	Immunodeficiency	100144748	KLLN	ORPHA:201
HP:0002721	Immunodeficiency	54	ACP5	OMIM:607944
HP:0002721	Immunodeficiency	80169	CTC1	ORPHA:1775
HP:0002721	Immunodeficiency	55651	NHP2	ORPHA:1775
HP:0002721	Immunodeficiency	79650	USB1	ORPHA:1775
HP:0002721	Immunodeficiency	55135	WRAP53	ORPHA:1775
HP:0002721	Immunodeficiency	4869	NPM1	ORPHA:1775
HP:0002721	Immunodeficiency	7012	TERC	ORPHA:1775
HP:0002721	Immunodeficiency	55505	NOP10	ORPHA:1775
HP:0002721	Immunodeficiency	7298	TYMS	ORPHA:1775
HP:0002721	Immunodeficiency	6905	TBCE	ORPHA:2323
HP:0002721	Immunodeficiency	204	AK2	ORPHA:33355
HP:0002721	Immunodeficiency	1729	DIAPH1	ORPHA:477814
HP:0002721	Immunodeficiency	4247	MGAT2	ORPHA:79329
HP:0002721	Immunodeficiency	23308	ICOSLG	OMIM:620825
HP:0002721	Immunodeficiency	1794	DOCK2	OMIM:616433
HP:0002721	Immunodeficiency	10320	IKZF1	OMIM:616873
HP:0002721	Immunodeficiency	3561	IL2RG	OMIM:312863
HP:0002721	Immunodeficiency	5897	RAG2	OMIM:233650
HP:0002721	Immunodeficiency	90417	KNSTRN	ORPHA:221139
HP:0002721	Immunodeficiency	701	BUB1B	OMIM:257300
HP:0002722	Recurrent abscess formation	8547	FCN3	OMIM:613860
HP:0002722	Recurrent abscess formation	4688	NCF2	OMIM:233710
HP:0002722	Recurrent abscess formation	6850	SYK	OMIM:619381
HP:0002722	Recurrent abscess formation	5297	PI4KA	ORPHA:436252
HP:0002722	Recurrent abscess formation	57217	TTC7A	ORPHA:436252
HP:0002722	Recurrent abscess formation	915	CD3D	ORPHA:169160
HP:0002722	Recurrent abscess formation	916	CD3E	ORPHA:169160
HP:0002722	Recurrent abscess formation	919	CD247	ORPHA:169160
HP:0002722	Recurrent abscess formation	1053	CEBPE	OMIM:260570
HP:0002722	Recurrent abscess formation	3431	SP110	ORPHA:79124
HP:0002722	Recurrent abscess formation	8546	AP3B1	OMIM:608233
HP:0002722	Recurrent abscess formation	695	BTK	ORPHA:47
HP:0002722	Recurrent abscess formation	10804	GJB6	ORPHA:477
HP:0002722	Recurrent abscess formation	2706	GJB2	ORPHA:477
HP:0002722	Recurrent abscess formation	6774	STAT3	OMIM:147060
HP:0002722	Recurrent abscess formation	146206	CARMIL2	OMIM:618131
HP:0002722	Recurrent abscess formation	3937	LCP2	OMIM:619374
HP:0002722	Recurrent abscess formation	29927	SEC61A1	OMIM:617056
HP:0002722	Recurrent abscess formation	7319	UBE2A	ORPHA:163956
HP:0002722	Recurrent abscess formation	55851	PSENEN	OMIM:613736
HP:0002722	Recurrent abscess formation	5663	PSEN1	OMIM:613737
HP:0002722	Recurrent abscess formation	1075	CTSC	ORPHA:678
HP:0002723	Absence of bactericidal oxidative respiratory burst in phagocytes	4688	NCF2	OMIM:233710
HP:0002723	Absence of bactericidal oxidative respiratory burst in phagocytes	1536	CYBB	OMIM:306400
HP:0002723	Absence of bactericidal oxidative respiratory burst in phagocytes	653361	NCF1	OMIM:233700
HP:0002723	Absence of bactericidal oxidative respiratory burst in phagocytes	1535	CYBA	OMIM:233690
HP:0002723	Absence of bactericidal oxidative respiratory burst in phagocytes	2542	SLC37A4	OMIM:232240
HP:0002724	Recurrent Aspergillus infections	4688	NCF2	OMIM:233710
HP:0002724	Recurrent Aspergillus infections	6804	STX1A	ORPHA:586
HP:0002724	Recurrent Aspergillus infections	2947	GSTM3	ORPHA:586
HP:0002724	Recurrent Aspergillus infections	7040	TGFB1	ORPHA:586
HP:0002724	Recurrent Aspergillus infections	2729	GCLC	ORPHA:586
HP:0002724	Recurrent Aspergillus infections	1084	CEACAM3	ORPHA:586
HP:0002724	Recurrent Aspergillus infections	6556	SLC11A1	ORPHA:586
HP:0002724	Recurrent Aspergillus infections	51164	DCTN4	ORPHA:586
HP:0002724	Recurrent Aspergillus infections	3783	KCNN4	ORPHA:586
HP:0002724	Recurrent Aspergillus infections	4282	MIF	ORPHA:586
HP:0002724	Recurrent Aspergillus infections	1909	EDNRA	ORPHA:586
HP:0002724	Recurrent Aspergillus infections	6550	SLC9A3	ORPHA:586
HP:0002724	Recurrent Aspergillus infections	3162	HMOX1	ORPHA:586
HP:0002724	Recurrent Aspergillus infections	115019	SLC26A9	ORPHA:586
HP:0002724	Recurrent Aspergillus infections	3077	HFE	ORPHA:586
HP:0002724	Recurrent Aspergillus infections	11254	SLC6A14	ORPHA:586
HP:0002724	Recurrent Aspergillus infections	5265	SERPINA1	ORPHA:586
HP:0002724	Recurrent Aspergillus infections	1080	CFTR	ORPHA:586
HP:0002724	Recurrent Aspergillus infections	22802	CLCA4	ORPHA:586
HP:0002724	Recurrent Aspergillus infections	4680	CEACAM6	ORPHA:586
HP:0002724	Recurrent Aspergillus infections	1536	CYBB	OMIM:306400
HP:0002724	Recurrent Aspergillus infections	653361	NCF1	OMIM:233700
HP:0002724	Recurrent Aspergillus infections	6772	STAT1	ORPHA:391487
HP:0002724	Recurrent Aspergillus infections	1535	CYBA	OMIM:233690
HP:0002725	Systemic lupus erythematosus	355	FAS	ORPHA:3261
HP:0002725	Systemic lupus erythematosus	356	FASLG	ORPHA:3261
HP:0002725	Systemic lupus erythematosus	843	CASP10	ORPHA:3261
HP:0002725	Systemic lupus erythematosus	54	ACP5	OMIM:607944
HP:0002725	Systemic lupus erythematosus	54	ACP5	ORPHA:1855
HP:0002725	Systemic lupus erythematosus	6609	SMPD1	ORPHA:77293
HP:0002725	Systemic lupus erythematosus	139818	DOCK11	OMIM:301109
HP:0002725	Systemic lupus erythematosus	720	C4A	OMIM:614380
HP:0002725	Systemic lupus erythematosus	731	C8A	OMIM:613790
HP:0002725	Systemic lupus erythematosus	8651	SOCS1	OMIM:619375
HP:0002725	Systemic lupus erythematosus	10747	MASP2	OMIM:613791
HP:0002725	Systemic lupus erythematosus	710	SERPING1	OMIM:120790
HP:0002725	Systemic lupus erythematosus	1776	DNASE1L3	OMIM:614420
HP:0002725	Systemic lupus erythematosus	712	C1QA	OMIM:613652
HP:0002725	Systemic lupus erythematosus	6775	STAT4	ORPHA:93552
HP:0002725	Systemic lupus erythematosus	6696	SPP1	ORPHA:93552
HP:0002725	Systemic lupus erythematosus	6303	SAT1	ORPHA:93552
HP:0002725	Systemic lupus erythematosus	3654	IRAK1	ORPHA:93552
HP:0002725	Systemic lupus erythematosus	718	C3	OMIM:613779
HP:0002725	Systemic lupus erythematosus	7174	TPP2	ORPHA:444463
HP:0002725	Systemic lupus erythematosus	3514	IGKC	ORPHA:183675
HP:0002725	Systemic lupus erythematosus	3501	IGHG2	ORPHA:183675
HP:0002725	Systemic lupus erythematosus	717	C2	OMIM:217000
HP:0002725	Systemic lupus erythematosus	51284	TLR7	OMIM:301080
HP:0002725	Systemic lupus erythematosus	4860	PNP	ORPHA:760
HP:0002725	Systemic lupus erythematosus	1080	CFTR	ORPHA:498359
HP:0002725	Systemic lupus erythematosus	51428	DDX41	OMIM:616871
HP:0002725	Systemic lupus erythematosus	716	C1S	OMIM:613783
HP:0002725	Systemic lupus erythematosus	2212	FCGR2A	OMIM:152700
HP:0002725	Systemic lupus erythematosus	2213	FCGR2B	OMIM:152700
HP:0002725	Systemic lupus erythematosus	26191	PTPN22	OMIM:152700
HP:0002725	Systemic lupus erythematosus	11277	TREX1	OMIM:152700
HP:0002725	Systemic lupus erythematosus	1493	CTLA4	OMIM:152700
HP:0002725	Systemic lupus erythematosus	1773	DNASE1	OMIM:152700
HP:0002725	Systemic lupus erythematosus	5184	PEPD	OMIM:170100
HP:0002725	Systemic lupus erythematosus	10501	SEMA6B	OMIM:618876
HP:0002726	Recurrent Staphylococcus aureus infections	4914	NTRK1	ORPHA:642
HP:0002726	Recurrent Staphylococcus aureus infections	6804	STX1A	ORPHA:586
HP:0002726	Recurrent Staphylococcus aureus infections	2947	GSTM3	ORPHA:586
HP:0002726	Recurrent Staphylococcus aureus infections	7040	TGFB1	ORPHA:586
HP:0002726	Recurrent Staphylococcus aureus infections	2729	GCLC	ORPHA:586
HP:0002726	Recurrent Staphylococcus aureus infections	1084	CEACAM3	ORPHA:586
HP:0002726	Recurrent Staphylococcus aureus infections	6556	SLC11A1	ORPHA:586
HP:0002726	Recurrent Staphylococcus aureus infections	51164	DCTN4	ORPHA:586
HP:0002726	Recurrent Staphylococcus aureus infections	3783	KCNN4	ORPHA:586
HP:0002726	Recurrent Staphylococcus aureus infections	4282	MIF	ORPHA:586
HP:0002726	Recurrent Staphylococcus aureus infections	1909	EDNRA	ORPHA:586
HP:0002726	Recurrent Staphylococcus aureus infections	6550	SLC9A3	ORPHA:586
HP:0002726	Recurrent Staphylococcus aureus infections	3162	HMOX1	ORPHA:586
HP:0002726	Recurrent Staphylococcus aureus infections	115019	SLC26A9	ORPHA:586
HP:0002726	Recurrent Staphylococcus aureus infections	3077	HFE	ORPHA:586
HP:0002726	Recurrent Staphylococcus aureus infections	11254	SLC6A14	ORPHA:586
HP:0002726	Recurrent Staphylococcus aureus infections	5265	SERPINA1	ORPHA:586
HP:0002726	Recurrent Staphylococcus aureus infections	1080	CFTR	ORPHA:586
HP:0002726	Recurrent Staphylococcus aureus infections	22802	CLCA4	ORPHA:586
HP:0002726	Recurrent Staphylococcus aureus infections	4680	CEACAM6	ORPHA:586
HP:0002726	Recurrent Staphylococcus aureus infections	1536	CYBB	OMIM:306400
HP:0002726	Recurrent Staphylococcus aureus infections	5994	RFXAP	ORPHA:572
HP:0002726	Recurrent Staphylococcus aureus infections	4261	CIITA	ORPHA:572
HP:0002726	Recurrent Staphylococcus aureus infections	5993	RFX5	ORPHA:572
HP:0002726	Recurrent Staphylococcus aureus infections	8625	RFXANK	ORPHA:572
HP:0002726	Recurrent Staphylococcus aureus infections	6774	STAT3	OMIM:147060
HP:0002726	Recurrent Staphylococcus aureus infections	6774	STAT3	ORPHA:2314
HP:0002726	Recurrent Staphylococcus aureus infections	8547	FCN3	OMIM:613860
HP:0002726	Recurrent Staphylococcus aureus infections	4688	NCF2	OMIM:233710
HP:0002726	Recurrent Staphylococcus aureus infections	8456	FOXN1	ORPHA:83471
HP:0002726	Recurrent Staphylococcus aureus infections	653361	NCF1	OMIM:233700
HP:0002726	Recurrent Staphylococcus aureus infections	23765	IL17RA	OMIM:613953
HP:0002726	Recurrent Staphylococcus aureus infections	1535	CYBA	OMIM:233690
HP:0002726	Recurrent Staphylococcus aureus infections	5238	PGM3	OMIM:615816
HP:0011123	Inflammatory abnormality of the skin	435	ASL	ORPHA:23
HP:0011123	Inflammatory abnormality of the skin	8036	SHOC2	OMIM:607721
HP:0011123	Inflammatory abnormality of the skin	2235	FECH	OMIM:177000
HP:0011123	Inflammatory abnormality of the skin	2235	FECH	ORPHA:79278
HP:0011123	Inflammatory abnormality of the skin	26960	NBEA	OMIM:619157
HP:0011123	Inflammatory abnormality of the skin	1493	CTLA4	ORPHA:436159
HP:0011123	Inflammatory abnormality of the skin	1493	CTLA4	OMIM:616100
HP:0011123	Inflammatory abnormality of the skin	1493	CTLA4	ORPHA:2584
HP:0011123	Inflammatory abnormality of the skin	4688	NCF2	OMIM:233710
HP:0011123	Inflammatory abnormality of the skin	4688	NCF2	ORPHA:379
HP:0011123	Inflammatory abnormality of the skin	6016	RIT1	OMIM:615355
HP:0011123	Inflammatory abnormality of the skin	6777	STAT5B	OMIM:618985
HP:0011123	Inflammatory abnormality of the skin	5238	PGM3	ORPHA:443811
HP:0011123	Inflammatory abnormality of the skin	5238	PGM3	OMIM:615816
HP:0011123	Inflammatory abnormality of the skin	9759	HDAC4	ORPHA:1001
HP:0011123	Inflammatory abnormality of the skin	9759	HDAC4	OMIM:600430
HP:0011123	Inflammatory abnormality of the skin	57122	NUP107	OMIM:618348
HP:0011123	Inflammatory abnormality of the skin	100151683	RNU4ATAC	ORPHA:353298
HP:0011123	Inflammatory abnormality of the skin	100151683	RNU4ATAC	OMIM:616651
HP:0011123	Inflammatory abnormality of the skin	3119	HLA-DQB1	ORPHA:703
HP:0011123	Inflammatory abnormality of the skin	3119	HLA-DQB1	OMIM:212750
HP:0011123	Inflammatory abnormality of the skin	3123	HLA-DRB1	ORPHA:703
HP:0011123	Inflammatory abnormality of the skin	2767	GNA11	ORPHA:428
HP:0011123	Inflammatory abnormality of the skin	846	CASR	ORPHA:428
HP:0011123	Inflammatory abnormality of the skin	3248	HPGD	ORPHA:1525
HP:0011123	Inflammatory abnormality of the skin	3248	HPGD	ORPHA:2796
HP:0011123	Inflammatory abnormality of the skin	3248	HPGD	OMIM:259100
HP:0011123	Inflammatory abnormality of the skin	5604	MAP2K1	ORPHA:389
HP:0011123	Inflammatory abnormality of the skin	4893	NRAS	ORPHA:389
HP:0011123	Inflammatory abnormality of the skin	673	BRAF	ORPHA:389
HP:0011123	Inflammatory abnormality of the skin	114803	MYSM1	ORPHA:508542
HP:0011123	Inflammatory abnormality of the skin	114803	MYSM1	OMIM:618116
HP:0011123	Inflammatory abnormality of the skin	4522	MTHFD1	OMIM:617780
HP:0011123	Inflammatory abnormality of the skin	3021	H3-3B	OMIM:619721
HP:0011123	Inflammatory abnormality of the skin	5184	PEPD	OMIM:170100
HP:0011123	Inflammatory abnormality of the skin	841	CASP8	OMIM:607271
HP:0011123	Inflammatory abnormality of the skin	79644	SRD5A3	OMIM:612379
HP:0011123	Inflammatory abnormality of the skin	5053	PAH	OMIM:261600
HP:0011123	Inflammatory abnormality of the skin	5053	PAH	ORPHA:79254
HP:0011123	Inflammatory abnormality of the skin	8456	FOXN1	ORPHA:83471
HP:0011123	Inflammatory abnormality of the skin	8626	TP63	OMIM:103285
HP:0011123	Inflammatory abnormality of the skin	9837	GINS1	OMIM:617827
HP:0011123	Inflammatory abnormality of the skin	1536	CYBB	ORPHA:379
HP:0011123	Inflammatory abnormality of the skin	1536	CYBB	OMIM:306400
HP:0011123	Inflammatory abnormality of the skin	1535	CYBA	ORPHA:379
HP:0011123	Inflammatory abnormality of the skin	1535	CYBA	OMIM:233690
HP:0011123	Inflammatory abnormality of the skin	4689	NCF4	ORPHA:379
HP:0011123	Inflammatory abnormality of the skin	653361	NCF1	ORPHA:379
HP:0011123	Inflammatory abnormality of the skin	653361	NCF1	OMIM:233700
HP:0011123	Inflammatory abnormality of the skin	79415	CYBC1	ORPHA:379
HP:0011123	Inflammatory abnormality of the skin	79415	CYBC1	OMIM:618935
HP:0011123	Inflammatory abnormality of the skin	134218	DNAJC21	ORPHA:811
HP:0011123	Inflammatory abnormality of the skin	134218	DNAJC21	OMIM:617052
HP:0011123	Inflammatory abnormality of the skin	79631	EFL1	ORPHA:811
HP:0011123	Inflammatory abnormality of the skin	51119	SBDS	ORPHA:811
HP:0011123	Inflammatory abnormality of the skin	7175	TPR	OMIM:620393
HP:0011123	Inflammatory abnormality of the skin	7535	ZAP70	OMIM:269840
HP:0011123	Inflammatory abnormality of the skin	16	AARS1	OMIM:619691
HP:0011123	Inflammatory abnormality of the skin	16	AARS1	ORPHA:33364
HP:0011123	Inflammatory abnormality of the skin	7454	WAS	OMIM:300299
HP:0011123	Inflammatory abnormality of the skin	7454	WAS	OMIM:301000
HP:0011123	Inflammatory abnormality of the skin	7454	WAS	ORPHA:906
HP:0011123	Inflammatory abnormality of the skin	7454	WAS	OMIM:313900
HP:0011123	Inflammatory abnormality of the skin	1896	EDA	OMIM:305100
HP:0011123	Inflammatory abnormality of the skin	7780	SLC30A2	OMIM:608118
HP:0011123	Inflammatory abnormality of the skin	51360	MBTPS2	ORPHA:2273
HP:0011123	Inflammatory abnormality of the skin	51360	MBTPS2	OMIM:308205
HP:0011123	Inflammatory abnormality of the skin	284058	KANSL1	ORPHA:363958
HP:0011123	Inflammatory abnormality of the skin	284058	KANSL1	ORPHA:363965
HP:0011123	Inflammatory abnormality of the skin	284058	KANSL1	OMIM:610443
HP:0011123	Inflammatory abnormality of the skin	7922	SLC39A7	OMIM:619693
HP:0011123	Inflammatory abnormality of the skin	6601	SMARCC2	OMIM:618362
HP:0011123	Inflammatory abnormality of the skin	54496	PRMT7	OMIM:617157
HP:0011123	Inflammatory abnormality of the skin	54496	PRMT7	ORPHA:464288
HP:0011123	Inflammatory abnormality of the skin	8260	NAA10	OMIM:300855
HP:0011123	Inflammatory abnormality of the skin	6774	STAT3	ORPHA:2314
HP:0011123	Inflammatory abnormality of the skin	6774	STAT3	OMIM:615952
HP:0011123	Inflammatory abnormality of the skin	6774	STAT3	OMIM:147060
HP:0011123	Inflammatory abnormality of the skin	816	CAMK2B	OMIM:617799
HP:0011123	Inflammatory abnormality of the skin	10616	RBCK1	OMIM:615895
HP:0011123	Inflammatory abnormality of the skin	3572	IL6ST	OMIM:618523
HP:0011123	Inflammatory abnormality of the skin	3572	IL6ST	OMIM:619751
HP:0011123	Inflammatory abnormality of the skin	686	BTD	ORPHA:79241
HP:0011123	Inflammatory abnormality of the skin	3117	HLA-DQA1	OMIM:212750
HP:0011123	Inflammatory abnormality of the skin	3141	HLCS	ORPHA:79242
HP:0011123	Inflammatory abnormality of the skin	10092	ARPC5	OMIM:620565
HP:0011123	Inflammatory abnormality of the skin	6578	SLCO2A1	ORPHA:2796
HP:0011123	Inflammatory abnormality of the skin	6821	SUOX	OMIM:272300
HP:0011123	Inflammatory abnormality of the skin	5095	PCCA	OMIM:606054
HP:0011123	Inflammatory abnormality of the skin	5096	PCCB	OMIM:606054
HP:0011123	Inflammatory abnormality of the skin	1717	DHCR7	OMIM:270400
HP:0011123	Inflammatory abnormality of the skin	4478	MSN	OMIM:300988
HP:0011123	Inflammatory abnormality of the skin	26053	AUTS2	ORPHA:352490
HP:0011123	Inflammatory abnormality of the skin	51428	DDX41	OMIM:616871
HP:0011123	Inflammatory abnormality of the skin	146206	CARMIL2	OMIM:618131
HP:0011123	Inflammatory abnormality of the skin	2313	FLI1	OMIM:617443
HP:0011123	Inflammatory abnormality of the skin	2313	FLI1	ORPHA:2308
HP:0011123	Inflammatory abnormality of the skin	93627	TBCK	ORPHA:488632
HP:0011123	Inflammatory abnormality of the skin	267010	RNU12	ORPHA:85199
HP:0011123	Inflammatory abnormality of the skin	1474	CST6	OMIM:618535
HP:0011123	Inflammatory abnormality of the skin	25942	SIN3A	OMIM:613406
HP:0011123	Inflammatory abnormality of the skin	8517	IKBKG	ORPHA:98813
HP:0011123	Inflammatory abnormality of the skin	4792	NFKBIA	ORPHA:98813
HP:0011123	Inflammatory abnormality of the skin	91039	DPP9	OMIM:620331
HP:0011123	Inflammatory abnormality of the skin	64864	RFX7	OMIM:620330
HP:0011123	Inflammatory abnormality of the skin	3981	LIG4	ORPHA:235
HP:0011123	Inflammatory abnormality of the skin	54888	NSUN2	ORPHA:235
HP:0011123	Inflammatory abnormality of the skin	54888	NSUN2	OMIM:611091
HP:0011123	Inflammatory abnormality of the skin	10043	TOM1	OMIM:619510
HP:0011123	Inflammatory abnormality of the skin	10526	IPO8	OMIM:619472
HP:0011123	Inflammatory abnormality of the skin	54914	FOCAD	OMIM:619991
HP:0011123	Inflammatory abnormality of the skin	126695	KDF1	OMIM:617337
HP:0011123	Inflammatory abnormality of the skin	126695	KDF1	ORPHA:1810
HP:0011123	Inflammatory abnormality of the skin	7456	WIPF1	ORPHA:906
HP:0011123	Inflammatory abnormality of the skin	7456	WIPF1	OMIM:614493
HP:0011123	Inflammatory abnormality of the skin	3575	IL7R	OMIM:608971
HP:0011123	Inflammatory abnormality of the skin	25914	RTTN	ORPHA:468631
HP:0011123	Inflammatory abnormality of the skin	2312	FLG	OMIM:146700
HP:0011123	Inflammatory abnormality of the skin	55719	SLF2	OMIM:620184
HP:0011123	Inflammatory abnormality of the skin	79092	CARD14	ORPHA:2897
HP:0011123	Inflammatory abnormality of the skin	283209	PGM2L1	OMIM:620191
HP:0011123	Inflammatory abnormality of the skin	6595	SMARCA2	ORPHA:3051
HP:0011123	Inflammatory abnormality of the skin	6595	SMARCA2	OMIM:601358
HP:0011123	Inflammatory abnormality of the skin	6872	TAF1	OMIM:300966
HP:0011123	Inflammatory abnormality of the skin	11005	SPINK5	OMIM:256500
HP:0011123	Inflammatory abnormality of the skin	11005	SPINK5	ORPHA:634
HP:0011123	Inflammatory abnormality of the skin	51816	ADA2	OMIM:615688
HP:0011123	Inflammatory abnormality of the skin	55072	RNF31	OMIM:620632
HP:0011123	Inflammatory abnormality of the skin	5294	PIK3CG	OMIM:619802
HP:0011123	Inflammatory abnormality of the skin	917	CD3G	OMIM:615607
HP:0011123	Inflammatory abnormality of the skin	84905	ZNF341	OMIM:618282
HP:0011123	Inflammatory abnormality of the skin	23387	SIK3	OMIM:618162
HP:0011123	Inflammatory abnormality of the skin	3978	LIG1	OMIM:619774
HP:0011123	Inflammatory abnormality of the skin	5879	RAC1	OMIM:617751
HP:0011123	Inflammatory abnormality of the skin	5879	RAC1	ORPHA:500159
HP:0011123	Inflammatory abnormality of the skin	2678	GGT1	OMIM:231950
HP:0011123	Inflammatory abnormality of the skin	203190	LGI3	OMIM:620007
HP:0011123	Inflammatory abnormality of the skin	3930	LBR	OMIM:169400
HP:0011123	Inflammatory abnormality of the skin	23765	IL17RA	OMIM:613953
HP:0011123	Inflammatory abnormality of the skin	4733	DRG1	OMIM:620641
HP:0011123	Inflammatory abnormality of the skin	404672	GTF2H5	ORPHA:33364
HP:0011123	Inflammatory abnormality of the skin	833	CARS1	ORPHA:33364
HP:0011123	Inflammatory abnormality of the skin	2068	ERCC2	ORPHA:33364
HP:0011123	Inflammatory abnormality of the skin	7737	RNF113A	ORPHA:33364
HP:0011123	Inflammatory abnormality of the skin	136647	MPLKIP	ORPHA:33364
HP:0011123	Inflammatory abnormality of the skin	6897	TARS1	ORPHA:33364
HP:0011123	Inflammatory abnormality of the skin	2071	ERCC3	ORPHA:33364
HP:0011123	Inflammatory abnormality of the skin	2961	GTF2E2	ORPHA:33364
HP:0011123	Inflammatory abnormality of the skin	9526	MPDU1	ORPHA:79323
HP:0011123	Inflammatory abnormality of the skin	9333	TGM5	ORPHA:263534
HP:0011123	Inflammatory abnormality of the skin	1475	CSTA	ORPHA:263534
HP:0011123	Inflammatory abnormality of the skin	81704	DOCK8	OMIM:243700
HP:0011123	Inflammatory abnormality of the skin	55181	SMG8	OMIM:619268
HP:0011123	Inflammatory abnormality of the skin	56160	NSMCE3	OMIM:617241
HP:0011123	Inflammatory abnormality of the skin	5426	POLE	OMIM:618336
HP:0011123	Inflammatory abnormality of the skin	8216	LZTR1	OMIM:605275
HP:0011123	Inflammatory abnormality of the skin	940	CD28	ORPHA:2584
HP:0011123	Inflammatory abnormality of the skin	7133	TNFRSF1B	ORPHA:2584
HP:0011123	Inflammatory abnormality of the skin	3559	IL2RA	OMIM:606367
HP:0011123	Inflammatory abnormality of the skin	7189	TRAF6	ORPHA:1810
HP:0011123	Inflammatory abnormality of the skin	128178	EDARADD	ORPHA:1810
HP:0011123	Inflammatory abnormality of the skin	10913	EDAR	ORPHA:1810
HP:0011123	Inflammatory abnormality of the skin	3561	IL2RG	ORPHA:276
HP:0011123	Inflammatory abnormality of the skin	3561	IL2RG	OMIM:300400
HP:0011123	Inflammatory abnormality of the skin	64421	DCLRE1C	ORPHA:275
HP:0011123	Inflammatory abnormality of the skin	90268	OTULIN	OMIM:617099
HP:0011123	Inflammatory abnormality of the skin	144811	LACC1	ORPHA:85414
HP:0011123	Inflammatory abnormality of the skin	144811	LACC1	OMIM:618795
HP:0011123	Inflammatory abnormality of the skin	4282	MIF	ORPHA:85414
HP:0011123	Inflammatory abnormality of the skin	3569	IL6	ORPHA:85414
HP:0011123	Inflammatory abnormality of the skin	4598	MVK	OMIM:260920
HP:0011123	Inflammatory abnormality of the skin	4598	MVK	OMIM:610377
HP:0011123	Inflammatory abnormality of the skin	8737	RIPK1	OMIM:618108
HP:0011123	Inflammatory abnormality of the skin	6775	STAT4	ORPHA:93552
HP:0011123	Inflammatory abnormality of the skin	6696	SPP1	ORPHA:93552
HP:0011123	Inflammatory abnormality of the skin	6303	SAT1	ORPHA:93552
HP:0011123	Inflammatory abnormality of the skin	3654	IRAK1	ORPHA:93552
HP:0011123	Inflammatory abnormality of the skin	1776	DNASE1L3	ORPHA:36412
HP:0011123	Inflammatory abnormality of the skin	79650	USB1	OMIM:604173
HP:0011123	Inflammatory abnormality of the skin	5551	PRF1	ORPHA:540
HP:0011123	Inflammatory abnormality of the skin	5551	PRF1	OMIM:603553
HP:0011123	Inflammatory abnormality of the skin	8676	STX11	ORPHA:540
HP:0011123	Inflammatory abnormality of the skin	8676	STX11	OMIM:603552
HP:0011123	Inflammatory abnormality of the skin	201294	UNC13D	ORPHA:540
HP:0011123	Inflammatory abnormality of the skin	6813	STXBP2	ORPHA:540
HP:0011123	Inflammatory abnormality of the skin	58484	NLRC4	OMIM:616050
HP:0011123	Inflammatory abnormality of the skin	3106	HLA-B	ORPHA:29207
HP:0011123	Inflammatory abnormality of the skin	9051	PSTPIP1	OMIM:601979
HP:0011123	Inflammatory abnormality of the skin	55788	LMBRD1	OMIM:277380
HP:0011123	Inflammatory abnormality of the skin	55788	LMBRD1	ORPHA:79284
HP:0011123	Inflammatory abnormality of the skin	5698	PSMB9	OMIM:620796
HP:0011123	Inflammatory abnormality of the skin	7132	TNFRSF1A	ORPHA:32960
HP:0011123	Inflammatory abnormality of the skin	7132	TNFRSF1A	OMIM:142680
HP:0011123	Inflammatory abnormality of the skin	114548	NLRP3	ORPHA:575
HP:0011123	Inflammatory abnormality of the skin	114548	NLRP3	OMIM:607115
HP:0011123	Inflammatory abnormality of the skin	114548	NLRP3	OMIM:120100
HP:0011123	Inflammatory abnormality of the skin	5994	RFXAP	ORPHA:572
HP:0011123	Inflammatory abnormality of the skin	4261	CIITA	ORPHA:572
HP:0011123	Inflammatory abnormality of the skin	5993	RFX5	ORPHA:572
HP:0011123	Inflammatory abnormality of the skin	8625	RFXANK	ORPHA:572
HP:0011123	Inflammatory abnormality of the skin	5699	PSMB10	OMIM:619175
HP:0011123	Inflammatory abnormality of the skin	7128	TNFAIP3	OMIM:616744
HP:0011123	Inflammatory abnormality of the skin	5896	RAG1	ORPHA:331206
HP:0011123	Inflammatory abnormality of the skin	5897	RAG2	ORPHA:331206
HP:0011123	Inflammatory abnormality of the skin	340061	STING1	OMIM:615934
HP:0011123	Inflammatory abnormality of the skin	10095	ARPC1B	OMIM:617718
HP:0011123	Inflammatory abnormality of the skin	1130	LYST	ORPHA:167
HP:0011123	Inflammatory abnormality of the skin	84818	IL17RC	ORPHA:1334
HP:0011123	Inflammatory abnormality of the skin	64581	CLEC7A	ORPHA:1334
HP:0011123	Inflammatory abnormality of the skin	10758	TRAF3IP2	ORPHA:1334
HP:0011123	Inflammatory abnormality of the skin	112744	IL17F	ORPHA:1334
HP:0011123	Inflammatory abnormality of the skin	7010	TEK	ORPHA:1059
HP:0011123	Inflammatory abnormality of the skin	23152	CIC	OMIM:617600
HP:0011123	Inflammatory abnormality of the skin	2697	GJA1	ORPHA:317
HP:0011123	Inflammatory abnormality of the skin	2707	GJB3	ORPHA:317
HP:0011123	Inflammatory abnormality of the skin	2531	KDSR	ORPHA:317
HP:0011123	Inflammatory abnormality of the skin	127534	GJB4	ORPHA:317
HP:0011123	Inflammatory abnormality of the skin	84701	COX4I2	OMIM:612714
HP:0011123	Inflammatory abnormality of the skin	54	ACP5	ORPHA:1855
HP:0011123	Inflammatory abnormality of the skin	2243	FGA	OMIM:105200
HP:0011123	Inflammatory abnormality of the skin	26191	PTPN22	ORPHA:900
HP:0011123	Inflammatory abnormality of the skin	3115	HLA-DPB1	ORPHA:900
HP:0011123	Inflammatory abnormality of the skin	5657	PRTN3	ORPHA:900
HP:0011123	Inflammatory abnormality of the skin	3113	HLA-DPA1	ORPHA:900
HP:0011123	Inflammatory abnormality of the skin	4210	MEFV	ORPHA:342
HP:0011123	Inflammatory abnormality of the skin	5971	RELB	OMIM:617585
HP:0011123	Inflammatory abnormality of the skin	5205	ATP8B1	ORPHA:69665
HP:0011123	Inflammatory abnormality of the skin	8647	ABCB11	ORPHA:69665
HP:0011123	Inflammatory abnormality of the skin	5244	ABCB4	ORPHA:69665
HP:0011123	Inflammatory abnormality of the skin	9971	NR1H4	ORPHA:69665
HP:0011123	Inflammatory abnormality of the skin	5788	PTPRC	OMIM:619924
HP:0011123	Inflammatory abnormality of the skin	3557	IL1RN	OMIM:612852
HP:0011123	Inflammatory abnormality of the skin	2073	ERCC5	ORPHA:220295
HP:0011123	Inflammatory abnormality of the skin	2072	ERCC4	ORPHA:220295
HP:0011123	Inflammatory abnormality of the skin	64135	IFIH1	OMIM:615846
HP:0011123	Inflammatory abnormality of the skin	91662	NLRP12	OMIM:611762
HP:0011123	Inflammatory abnormality of the skin	3718	JAK3	ORPHA:35078
HP:0011123	Inflammatory abnormality of the skin	695	BTK	ORPHA:47
HP:0011123	Inflammatory abnormality of the skin	55739	NAXD	OMIM:618321
HP:0011123	Inflammatory abnormality of the skin	51371	POMP	OMIM:618048
HP:0011123	Inflammatory abnormality of the skin	5692	PSMB4	OMIM:617591
HP:0011123	Inflammatory abnormality of the skin	3937	LCP2	OMIM:619374
HP:0011123	Inflammatory abnormality of the skin	6389	SDHA	ORPHA:44890
HP:0011123	Inflammatory abnormality of the skin	6390	SDHB	ORPHA:44890
HP:0011123	Inflammatory abnormality of the skin	6391	SDHC	ORPHA:44890
HP:0011123	Inflammatory abnormality of the skin	5156	PDGFRA	ORPHA:44890
HP:0011123	Inflammatory abnormality of the skin	3815	KIT	ORPHA:44890
HP:0011123	Inflammatory abnormality of the skin	340024	SLC6A19	ORPHA:2116
HP:0011123	Inflammatory abnormality of the skin	57393	CLTRN	ORPHA:2116
HP:0011123	Inflammatory abnormality of the skin	3458	IFNG	OMIM:618963
HP:0011123	Inflammatory abnormality of the skin	3514	IGKC	ORPHA:183675
HP:0011123	Inflammatory abnormality of the skin	3501	IGHG2	ORPHA:183675
HP:0011123	Inflammatory abnormality of the skin	6850	SYK	OMIM:619381
HP:0011123	Inflammatory abnormality of the skin	641	BLM	ORPHA:125
HP:0011123	Inflammatory abnormality of the skin	2000	ELF4	OMIM:301074
HP:0011123	Inflammatory abnormality of the skin	11277	TREX1	ORPHA:247691
HP:0011123	Inflammatory abnormality of the skin	1291	COL6A1	OMIM:158810
HP:0011123	Inflammatory abnormality of the skin	10892	MALT1	OMIM:615468
HP:0011123	Inflammatory abnormality of the skin	9181	ARHGEF2	OMIM:617523
HP:0011123	Inflammatory abnormality of the skin	204	AK2	ORPHA:33355
HP:0011123	Inflammatory abnormality of the skin	56916	SMARCAD1	ORPHA:1658
HP:0011123	Inflammatory abnormality of the skin	6929	TCF3	ORPHA:33110
HP:0011123	Inflammatory abnormality of the skin	973	CD79A	ORPHA:33110
HP:0011123	Inflammatory abnormality of the skin	974	CD79B	ORPHA:33110
HP:0011123	Inflammatory abnormality of the skin	6688	SPI1	ORPHA:33110
HP:0011123	Inflammatory abnormality of the skin	3543	IGLL1	ORPHA:33110
HP:0011123	Inflammatory abnormality of the skin	3507	IGHM	ORPHA:33110
HP:0011123	Inflammatory abnormality of the skin	29760	BLNK	ORPHA:33110
HP:0011123	Inflammatory abnormality of the skin	5295	PIK3R1	ORPHA:33110
HP:0011123	Inflammatory abnormality of the skin	56262	LRRC8A	ORPHA:33110
HP:0011123	Inflammatory abnormality of the skin	126410	CYP4F22	OMIM:604777
HP:0011123	Inflammatory abnormality of the skin	126410	CYP4F22	ORPHA:313
HP:0011123	Inflammatory abnormality of the skin	7051	TGM1	OMIM:242300
HP:0011123	Inflammatory abnormality of the skin	7051	TGM1	ORPHA:100976
HP:0011123	Inflammatory abnormality of the skin	7051	TGM1	ORPHA:79394
HP:0011123	Inflammatory abnormality of the skin	7051	TGM1	ORPHA:313
HP:0011123	Inflammatory abnormality of the skin	3858	KRT10	ORPHA:312
HP:0011123	Inflammatory abnormality of the skin	3858	KRT10	OMIM:620150
HP:0011123	Inflammatory abnormality of the skin	3858	KRT10	OMIM:620707
HP:0011123	Inflammatory abnormality of the skin	3858	KRT10	OMIM:609165
HP:0011123	Inflammatory abnormality of the skin	3848	KRT1	ORPHA:312
HP:0011123	Inflammatory abnormality of the skin	3848	KRT1	OMIM:113800
HP:0011123	Inflammatory abnormality of the skin	348938	NIPAL4	OMIM:612281
HP:0011123	Inflammatory abnormality of the skin	348938	NIPAL4	ORPHA:79394
HP:0011123	Inflammatory abnormality of the skin	348938	NIPAL4	ORPHA:313
HP:0011123	Inflammatory abnormality of the skin	11012	KLK11	OMIM:620507
HP:0011123	Inflammatory abnormality of the skin	6023	RMRP	ORPHA:39041
HP:0011123	Inflammatory abnormality of the skin	55636	CHD7	ORPHA:39041
HP:0011123	Inflammatory abnormality of the skin	1041	CDSN	OMIM:270300
HP:0011123	Inflammatory abnormality of the skin	10999	SLC27A4	OMIM:608649
HP:0011123	Inflammatory abnormality of the skin	2706	GJB2	OMIM:602540
HP:0011123	Inflammatory abnormality of the skin	162	AP1B1	OMIM:242150
HP:0011123	Inflammatory abnormality of the skin	130340	AP1S3	ORPHA:247353
HP:0011123	Inflammatory abnormality of the skin	26525	IL36RN	ORPHA:247353
HP:0011123	Inflammatory abnormality of the skin	2137	EXTL3	OMIM:617425
HP:0011123	Inflammatory abnormality of the skin	6785	ELOVL4	OMIM:133190
HP:0011123	Inflammatory abnormality of the skin	26154	ABCA12	ORPHA:457
HP:0011123	Inflammatory abnormality of the skin	26154	ABCA12	ORPHA:79394
HP:0011123	Inflammatory abnormality of the skin	26154	ABCA12	ORPHA:313
HP:0011123	Inflammatory abnormality of the skin	57609	DIP2B	OMIM:136630
HP:0011123	Inflammatory abnormality of the skin	915	CD3D	ORPHA:169160
HP:0011123	Inflammatory abnormality of the skin	916	CD3E	ORPHA:169160
HP:0011123	Inflammatory abnormality of the skin	919	CD247	ORPHA:169160
HP:0011123	Inflammatory abnormality of the skin	919	CD247	OMIM:610163
HP:0011123	Inflammatory abnormality of the skin	4047	LSS	OMIM:618840
HP:0011123	Inflammatory abnormality of the skin	6868	ADAM17	OMIM:614328
HP:0011123	Inflammatory abnormality of the skin	10682	EBP	OMIM:302960
HP:0011123	Inflammatory abnormality of the skin	10682	EBP	ORPHA:35173
HP:0011123	Inflammatory abnormality of the skin	204219	CERS3	OMIM:615023
HP:0011123	Inflammatory abnormality of the skin	204219	CERS3	ORPHA:79394
HP:0011123	Inflammatory abnormality of the skin	285848	PNPLA1	OMIM:615024
HP:0011123	Inflammatory abnormality of the skin	285848	PNPLA1	ORPHA:79394
HP:0011123	Inflammatory abnormality of the skin	242	ALOX12B	ORPHA:79394
HP:0011123	Inflammatory abnormality of the skin	242	ALOX12B	ORPHA:313
HP:0011123	Inflammatory abnormality of the skin	6820	SULT2B1	ORPHA:79394
HP:0011123	Inflammatory abnormality of the skin	6820	SULT2B1	ORPHA:313
HP:0011123	Inflammatory abnormality of the skin	59344	ALOXE3	ORPHA:79394
HP:0011123	Inflammatory abnormality of the skin	59344	ALOXE3	ORPHA:313
HP:0011123	Inflammatory abnormality of the skin	121214	SDR9C7	ORPHA:79394
HP:0011123	Inflammatory abnormality of the skin	121214	SDR9C7	ORPHA:313
HP:0011123	Inflammatory abnormality of the skin	1828	DSG1	OMIM:615508
HP:0011123	Inflammatory abnormality of the skin	151516	ASPRV1	ORPHA:313
HP:0011123	Inflammatory abnormality of the skin	643418	LIPN	ORPHA:313
HP:0011123	Inflammatory abnormality of the skin	2615	LRRC32	OMIM:619074
HP:0011123	Inflammatory abnormality of the skin	388698	FLG2	OMIM:618084
HP:0011123	Inflammatory abnormality of the skin	3735	KARS1	ORPHA:3240
HP:0011123	Inflammatory abnormality of the skin	91754	NEK9	OMIM:614262
HP:0011123	Inflammatory abnormality of the skin	121391	KRT74	ORPHA:90368
HP:0011123	Inflammatory abnormality of the skin	5818	NECTIN1	OMIM:225060
HP:0011123	Inflammatory abnormality of the skin	6573	SLC19A1	OMIM:620603
HP:0011123	Inflammatory abnormality of the skin	84433	CARD11	OMIM:617638
HP:0011123	Inflammatory abnormality of the skin	22800	RRAS2	OMIM:618624
HP:0011123	Inflammatory abnormality of the skin	5498	PPOX	OMIM:620483
HP:0011123	Inflammatory abnormality of the skin	10060	ABCC9	OMIM:619719
HP:0011123	Inflammatory abnormality of the skin	1080	CFTR	ORPHA:498359
HP:0011123	Inflammatory abnormality of the skin	10847	SRCAP	OMIM:136140
HP:0011123	Inflammatory abnormality of the skin	23102	TBC1D2B	ORPHA:397973
HP:0011123	Inflammatory abnormality of the skin	3313	HSPA9	OMIM:616854
HP:0011123	Inflammatory abnormality of the skin	22880	MORC2	ORPHA:466768
HP:0011123	Inflammatory abnormality of the skin	2783	GNB2	OMIM:619503
HP:0011123	Inflammatory abnormality of the skin	3716	JAK1	OMIM:618999
HP:0011123	Inflammatory abnormality of the skin	4067	LYN	OMIM:620376
HP:0011123	Inflammatory abnormality of the skin	5290	PIK3CA	ORPHA:276280
HP:0011123	Inflammatory abnormality of the skin	79755	ZNF750	OMIM:610227
HP:0011123	Inflammatory abnormality of the skin	64087	MCCC2	OMIM:210210
HP:0011123	Inflammatory abnormality of the skin	9939	RBM8A	OMIM:274000
HP:0011123	Inflammatory abnormality of the skin	7086	TKT	ORPHA:488618
HP:0011123	Inflammatory abnormality of the skin	3832	KIF11	ORPHA:2526
HP:0011123	Inflammatory abnormality of the skin	9508	ADAMTS3	ORPHA:2136
HP:0011123	Inflammatory abnormality of the skin	147372	CCBE1	ORPHA:2136
HP:0011123	Inflammatory abnormality of the skin	147372	CCBE1	OMIM:235510
HP:0011123	Inflammatory abnormality of the skin	79633	FAT4	ORPHA:2136
HP:0011123	Inflammatory abnormality of the skin	2324	FLT4	ORPHA:79452
HP:0011123	Inflammatory abnormality of the skin	9780	PIEZO1	ORPHA:79452
HP:0011123	Inflammatory abnormality of the skin	285	ANGPT2	ORPHA:79452
HP:0011123	Inflammatory abnormality of the skin	57165	GJC2	ORPHA:79452
HP:0011123	Inflammatory abnormality of the skin	374393	FAM111B	OMIM:615704
HP:0011123	Inflammatory abnormality of the skin	9563	H6PD	OMIM:604931
HP:0011123	Inflammatory abnormality of the skin	1893	ECM1	ORPHA:530
HP:0011123	Inflammatory abnormality of the skin	84196	USP48	ORPHA:96253
HP:0011123	Inflammatory abnormality of the skin	7157	TP53	ORPHA:96253
HP:0011123	Inflammatory abnormality of the skin	9101	USP8	ORPHA:96253
HP:0011123	Inflammatory abnormality of the skin	64072	CDH23	ORPHA:96253
HP:0011123	Inflammatory abnormality of the skin	2908	NR3C1	ORPHA:96253
HP:0011123	Inflammatory abnormality of the skin	2908	NR3C1	ORPHA:786
HP:0011123	Inflammatory abnormality of the skin	546	ATRX	ORPHA:96253
HP:0011123	Inflammatory abnormality of the skin	331	XIAP	OMIM:300635
HP:0011123	Inflammatory abnormality of the skin	5566	PRKACA	OMIM:615830
HP:0011123	Inflammatory abnormality of the skin	54361	WNT4	ORPHA:247768
HP:0011123	Inflammatory abnormality of the skin	54361	WNT4	OMIM:158330
HP:0011123	Inflammatory abnormality of the skin	285590	SH3PXD2B	ORPHA:137834
HP:0011123	Inflammatory abnormality of the skin	285590	SH3PXD2B	OMIM:249420
HP:0011123	Inflammatory abnormality of the skin	3973	LHCGR	ORPHA:3000
HP:0011123	Inflammatory abnormality of the skin	5777	PTPN6	ORPHA:3243
HP:0011123	Inflammatory abnormality of the skin	9060	PAPSS2	OMIM:612847
HP:0011123	Inflammatory abnormality of the skin	1312	COMT	ORPHA:567
HP:0011123	Inflammatory abnormality of the skin	221037	JMJD1C	ORPHA:567
HP:0011123	Inflammatory abnormality of the skin	2812	GP1BB	ORPHA:567
HP:0011123	Inflammatory abnormality of the skin	6239	RREB1	ORPHA:567
HP:0011123	Inflammatory abnormality of the skin	6899	TBX1	ORPHA:567
HP:0011123	Inflammatory abnormality of the skin	6899	TBX1	OMIM:188400
HP:0011123	Inflammatory abnormality of the skin	7290	HIRA	ORPHA:567
HP:0011123	Inflammatory abnormality of the skin	9632	SEC24C	ORPHA:567
HP:0011123	Inflammatory abnormality of the skin	7353	UFD1	ORPHA:567
HP:0011123	Inflammatory abnormality of the skin	421	ARVCF	ORPHA:567
HP:0011123	Inflammatory abnormality of the skin	83550	GPR101	ORPHA:963
HP:0011123	Inflammatory abnormality of the skin	9049	AIP	ORPHA:963
HP:0011123	Inflammatory abnormality of the skin	64131	XYLT1	ORPHA:370930
HP:0011123	Inflammatory abnormality of the skin	2099	ESR1	ORPHA:785
HP:0011123	Inflammatory abnormality of the skin	2099	ESR1	OMIM:615363
HP:0011123	Inflammatory abnormality of the skin	79798	ARMC5	ORPHA:189427
HP:0011123	Inflammatory abnormality of the skin	23028	KDM1A	ORPHA:189427
HP:0011123	Inflammatory abnormality of the skin	2778	GNAS	ORPHA:189427
HP:0011123	Inflammatory abnormality of the skin	4212	MEIS2	ORPHA:261190
HP:0011123	Inflammatory abnormality of the skin	175	AGA	OMIM:208400
HP:0011123	Inflammatory abnormality of the skin	367	AR	ORPHA:99429
HP:0011123	Inflammatory abnormality of the skin	2263	FGFR2	OMIM:101200
HP:0011123	Inflammatory abnormality of the skin	1584	CYP11B1	ORPHA:90795
HP:0011123	Inflammatory abnormality of the skin	149233	IL23R	ORPHA:117
HP:0011123	Inflammatory abnormality of the skin	3586	IL10	ORPHA:117
HP:0011123	Inflammatory abnormality of the skin	1230	CCR1	ORPHA:117
HP:0011123	Inflammatory abnormality of the skin	355	FAS	ORPHA:117
HP:0011123	Inflammatory abnormality of the skin	3592	IL12A	ORPHA:117
HP:0011123	Inflammatory abnormality of the skin	101928376	IL12A-AS1	ORPHA:117
HP:0011123	Inflammatory abnormality of the skin	7099	TLR4	ORPHA:117
HP:0011123	Inflammatory abnormality of the skin	3459	IFNGR1	ORPHA:117
HP:0011123	Inflammatory abnormality of the skin	720	C4A	ORPHA:117
HP:0011123	Inflammatory abnormality of the skin	337867	UBAC2	ORPHA:117
HP:0011123	Inflammatory abnormality of the skin	51752	ERAP1	ORPHA:117
HP:0011123	Inflammatory abnormality of the skin	8302	KLRC4	ORPHA:117
HP:0011123	Inflammatory abnormality of the skin	10804	GJB6	ORPHA:477
HP:0011123	Inflammatory abnormality of the skin	59335	PRDM12	OMIM:616488
HP:0011123	Inflammatory abnormality of the skin	83706	FERMT3	OMIM:612840
HP:0011123	Inflammatory abnormality of the skin	3570	IL6R	OMIM:618944
HP:0011123	Inflammatory abnormality of the skin	3426	CFI	OMIM:610984
HP:0011123	Inflammatory abnormality of the skin	54440	SASH3	OMIM:301082
HP:0011123	Inflammatory abnormality of the skin	6789	STK4	OMIM:614868
HP:0011123	Inflammatory abnormality of the skin	11322	TMC6	ORPHA:302
HP:0011123	Inflammatory abnormality of the skin	3574	IL7	ORPHA:302
HP:0011123	Inflammatory abnormality of the skin	147138	TMC8	ORPHA:302
HP:0011123	Inflammatory abnormality of the skin	10519	CIB1	ORPHA:302
HP:0011123	Inflammatory abnormality of the skin	3655	ITGA6	ORPHA:79403
HP:0011123	Inflammatory abnormality of the skin	3691	ITGB4	ORPHA:79403
HP:0011123	Inflammatory abnormality of the skin	3909	LAMA3	ORPHA:79404
HP:0011123	Inflammatory abnormality of the skin	3918	LAMC2	ORPHA:79404
HP:0011123	Inflammatory abnormality of the skin	3914	LAMB3	ORPHA:79404
HP:0011123	Inflammatory abnormality of the skin	113189	CHST14	OMIM:601776
HP:0011123	Inflammatory abnormality of the skin	113189	CHST14	ORPHA:2953
HP:0011123	Inflammatory abnormality of the skin	4312	MMP1	ORPHA:79408
HP:0011123	Inflammatory abnormality of the skin	1294	COL7A1	ORPHA:79408
HP:0011123	Inflammatory abnormality of the skin	1294	COL7A1	ORPHA:89842
HP:0011123	Inflammatory abnormality of the skin	27086	FOXP1	ORPHA:391372
HP:0011123	Inflammatory abnormality of the skin	10525	HYOU1	OMIM:233600
HP:0011123	Inflammatory abnormality of the skin	4780	NFE2L2	OMIM:617744
HP:0011123	Inflammatory abnormality of the skin	4790	NFKB1	OMIM:616576
HP:0011123	Inflammatory abnormality of the skin	11128	POLR3A	ORPHA:3455
HP:0011123	Inflammatory abnormality of the skin	1991	ELANE	ORPHA:2686
HP:0011123	Inflammatory abnormality of the skin	1991	ELANE	ORPHA:486
HP:0011123	Inflammatory abnormality of the skin	5317	PKP1	ORPHA:158668
HP:0011123	Inflammatory abnormality of the skin	55612	FERMT1	ORPHA:2908
HP:0011123	Inflammatory abnormality of the skin	4615	MYD88	OMIM:612260
HP:0011123	Inflammatory abnormality of the skin	29940	DSE	ORPHA:2953
HP:0011123	Inflammatory abnormality of the skin	57591	MRTFA	OMIM:618847
HP:0011123	Inflammatory abnormality of the skin	2303	FOXC2	ORPHA:33001
HP:0011123	Inflammatory abnormality of the skin	2050	EPHB4	ORPHA:90186
HP:0011123	Inflammatory abnormality of the skin	10312	TCIRG1	ORPHA:486
HP:0011123	Inflammatory abnormality of the skin	6728	SRP19	ORPHA:486
HP:0011123	Inflammatory abnormality of the skin	2672	GFI1	ORPHA:486
HP:0011123	Inflammatory abnormality of the skin	81570	CLPB	ORPHA:486
HP:0011123	Inflammatory abnormality of the skin	26258	BLOC1S6	OMIM:614171
HP:0011123	Inflammatory abnormality of the skin	4153	MBL2	OMIM:614372
HP:0011123	Inflammatory abnormality of the skin	3852	KRT5	ORPHA:79396
HP:0011123	Inflammatory abnormality of the skin	3861	KRT14	ORPHA:79396
HP:0011123	Inflammatory abnormality of the skin	6778	STAT6	OMIM:620532
HP:0011123	Inflammatory abnormality of the skin	8883	NAE1	OMIM:620210
HP:0011123	Inflammatory abnormality of the skin	1075	CTSC	ORPHA:678
HP:0011123	Inflammatory abnormality of the skin	57724	EPG5	OMIM:242840
HP:0011123	Inflammatory abnormality of the skin	3689	ITGB2	OMIM:116920
HP:0011123	Inflammatory abnormality of the skin	326	AIRE	OMIM:240300
HP:0011123	Inflammatory abnormality of the skin	326	AIRE	ORPHA:3453
HP:0011123	Inflammatory abnormality of the skin	9020	MAP3K14	OMIM:620449
HP:0011123	Inflammatory abnormality of the skin	3431	SP110	ORPHA:79124
HP:0011123	Inflammatory abnormality of the skin	6720	SREBF1	OMIM:158310
HP:0011123	Inflammatory abnormality of the skin	4791	NFKB2	ORPHA:293978
HP:0011123	Inflammatory abnormality of the skin	4791	NFKB2	OMIM:615577
HP:0011123	Inflammatory abnormality of the skin	57217	TTC7A	OMIM:243150
HP:0011123	Inflammatory abnormality of the skin	57217	TTC7A	ORPHA:436252
HP:0011123	Inflammatory abnormality of the skin	8913	CACNA1G	ORPHA:458803
HP:0011123	Inflammatory abnormality of the skin	3107	HLA-C	OMIM:177900
HP:0011123	Inflammatory abnormality of the skin	2625	GATA3	ORPHA:2237
HP:0011123	Inflammatory abnormality of the skin	64919	BCL11B	OMIM:617237
HP:0011123	Inflammatory abnormality of the skin	5297	PI4KA	ORPHA:436252
HP:0011123	Inflammatory abnormality of the skin	5293	PIK3CD	ORPHA:221139
HP:0011123	Inflammatory abnormality of the skin	90417	KNSTRN	ORPHA:221139
HP:0011123	Inflammatory abnormality of the skin	55806	HR	ORPHA:701
HP:0011123	Inflammatory abnormality of the skin	5277	PIGA	OMIM:300868
HP:0011123	Inflammatory abnormality of the skin	359948	IRF2BP2	OMIM:617765
HP:0011123	Inflammatory abnormality of the skin	55315	SLC29A3	ORPHA:168569
HP:0011123	Inflammatory abnormality of the skin	6307	MSMO1	OMIM:616834
HP:0011123	Inflammatory abnormality of the skin	1956	EGFR	ORPHA:294023
HP:0011123	Inflammatory abnormality of the skin	7390	UROS	ORPHA:79277
HP:0011123	Inflammatory abnormality of the skin	2623	GATA1	ORPHA:79277
HP:0011123	Inflammatory abnormality of the skin	51135	IRAK4	ORPHA:70592
HP:0011123	Inflammatory abnormality of the skin	7389	UROD	ORPHA:95159
HP:0011123	Inflammatory abnormality of the skin	23592	LEMD3	ORPHA:166119
HP:0011123	Inflammatory abnormality of the skin	714	C1QC	OMIM:620322
HP:0011123	Inflammatory abnormality of the skin	2215	FCGR3B	ORPHA:536
HP:0011123	Inflammatory abnormality of the skin	3684	ITGAM	ORPHA:536
HP:0011123	Inflammatory abnormality of the skin	221895	JAZF1	ORPHA:536
HP:0011123	Inflammatory abnormality of the skin	7292	TNFSF4	ORPHA:536
HP:0011123	Inflammatory abnormality of the skin	640	BLK	ORPHA:536
HP:0011123	Inflammatory abnormality of the skin	55024	BANK1	ORPHA:536
HP:0011123	Inflammatory abnormality of the skin	3500	IGHG1	ORPHA:536
HP:0011123	Inflammatory abnormality of the skin	1380	CR2	ORPHA:536
HP:0011123	Inflammatory abnormality of the skin	5133	PDCD1	ORPHA:536
HP:0011123	Inflammatory abnormality of the skin	2113	ETS1	ORPHA:536
HP:0011123	Inflammatory abnormality of the skin	2213	FCGR2B	ORPHA:536
HP:0011123	Inflammatory abnormality of the skin	10318	TNIP1	ORPHA:536
HP:0011123	Inflammatory abnormality of the skin	7332	UBE2L3	ORPHA:536
HP:0011123	Inflammatory abnormality of the skin	79932	KIAA0319L	ORPHA:536
HP:0011123	Inflammatory abnormality of the skin	4204	MECP2	ORPHA:536
HP:0011123	Inflammatory abnormality of the skin	3663	IRF5	ORPHA:536
HP:0011123	Inflammatory abnormality of the skin	721	C4B	ORPHA:536
HP:0011123	Inflammatory abnormality of the skin	1773	DNASE1	ORPHA:536
HP:0011123	Inflammatory abnormality of the skin	51284	TLR7	ORPHA:536
HP:0011123	Inflammatory abnormality of the skin	54899	PXK	ORPHA:536
HP:0011123	Inflammatory abnormality of the skin	727	C5	OMIM:609536
HP:0011123	Inflammatory abnormality of the skin	64170	CARD9	OMIM:212050
HP:0011123	Inflammatory abnormality of the skin	7037	TFRC	OMIM:616740
HP:0011123	Inflammatory abnormality of the skin	3932	LCK	OMIM:615758
HP:0011123	Inflammatory abnormality of the skin	959	CD40LG	OMIM:308230
HP:0011123	Inflammatory abnormality of the skin	8546	AP3B1	OMIM:608233
HP:0011123	Inflammatory abnormality of the skin	51311	TLR8	OMIM:301078
HP:0011123	Inflammatory abnormality of the skin	9948	WDR1	OMIM:150550
HP:0011123	Inflammatory abnormality of the skin	28755	TRAC	OMIM:615387
HP:0011123	Inflammatory abnormality of the skin	11151	CORO1A	OMIM:615401
HP:0011123	Inflammatory abnormality of the skin	1794	DOCK2	OMIM:616433
HP:0011123	Inflammatory abnormality of the skin	1777	DNASE2	OMIM:619858
HP:0011123	Inflammatory abnormality of the skin	25939	SAMHD1	OMIM:614415
HP:0011123	Inflammatory abnormality of the skin	25939	SAMHD1	OMIM:612952
HP:0011123	Inflammatory abnormality of the skin	25939	SAMHD1	ORPHA:51
HP:0011123	Inflammatory abnormality of the skin	100147744	RNU7-1	OMIM:619487
HP:0011123	Inflammatory abnormality of the skin	100147744	RNU7-1	ORPHA:51
HP:0011123	Inflammatory abnormality of the skin	10535	RNASEH2A	ORPHA:51
HP:0011123	Inflammatory abnormality of the skin	84153	RNASEH2C	ORPHA:51
HP:0011123	Inflammatory abnormality of the skin	84153	RNASEH2C	OMIM:610329
HP:0011123	Inflammatory abnormality of the skin	79621	RNASEH2B	ORPHA:51
HP:0011123	Inflammatory abnormality of the skin	103	ADAR	ORPHA:51
HP:0011123	Inflammatory abnormality of the skin	103	ADAR	OMIM:615010
HP:0011123	Inflammatory abnormality of the skin	134353	LSM11	ORPHA:51
HP:0011123	Inflammatory abnormality of the skin	713	C1QB	OMIM:620321
HP:0011123	Inflammatory abnormality of the skin	7040	TGFB1	OMIM:618213
HP:0011123	Inflammatory abnormality of the skin	92579	G6PC3	OMIM:612541
HP:0011123	Inflammatory abnormality of the skin	22806	IKZF3	OMIM:619437
HP:0011123	Inflammatory abnormality of the skin	4149	MAX	OMIM:620712
HP:0011123	Inflammatory abnormality of the skin	29927	SEC61A1	OMIM:620674
HP:0011123	Inflammatory abnormality of the skin	3110	MNX1	OMIM:176450
HP:0011123	Inflammatory abnormality of the skin	100	ADA	ORPHA:277
HP:0011123	Inflammatory abnormality of the skin	100	ADA	OMIM:102700
HP:0011123	Inflammatory abnormality of the skin	9663	LPIN2	OMIM:609628
HP:0011123	Inflammatory abnormality of the skin	9663	LPIN2	ORPHA:77297
HP:0011123	Inflammatory abnormality of the skin	6772	STAT1	ORPHA:391487
HP:0011123	Inflammatory abnormality of the skin	50943	FOXP3	ORPHA:37042
HP:0011123	Inflammatory abnormality of the skin	10295	BCKDK	OMIM:614923
HP:0011123	Inflammatory abnormality of the skin	22845	DOLK	OMIM:610768
HP:0011123	Inflammatory abnormality of the skin	29110	TBK1	OMIM:620880
HP:0011123	Inflammatory abnormality of the skin	37	ACADVL	ORPHA:26793
HP:0011123	Inflammatory abnormality of the skin	7317	UBA1	OMIM:301054
HP:0011123	Inflammatory abnormality of the skin	57104	PNPLA2	ORPHA:565612
HP:0011123	Inflammatory abnormality of the skin	57152	SLURP1	ORPHA:87503
HP:0011123	Inflammatory abnormality of the skin	64127	NOD2	OMIM:617321
HP:0011123	Inflammatory abnormality of the skin	2683	B4GALT1	ORPHA:79332
HP:0011123	Inflammatory abnormality of the skin	6097	RORC	OMIM:616622
HP:0011123	Inflammatory abnormality of the skin	56244	BTNL2	OMIM:612387
HP:0011123	Inflammatory abnormality of the skin	56244	BTNL2	ORPHA:797
HP:0011123	Inflammatory abnormality of the skin	987	LRBA	OMIM:614700
HP:0011123	Inflammatory abnormality of the skin	3593	IL12B	ORPHA:3287
HP:0011123	Inflammatory abnormality of the skin	6945	MLX	ORPHA:3287
HP:0011123	Inflammatory abnormality of the skin	5696	PSMB8	OMIM:256040
HP:0011123	Inflammatory abnormality of the skin	55851	PSENEN	OMIM:613736
HP:0011123	Inflammatory abnormality of the skin	5663	PSEN1	OMIM:613737
HP:0011123	Inflammatory abnormality of the skin	10625	IVNS1ABP	OMIM:618969
HP:0011123	Inflammatory abnormality of the skin	3587	IL10RA	OMIM:613148
HP:0011123	Inflammatory abnormality of the skin	3588	IL10RB	OMIM:612567
HP:0011123	Inflammatory abnormality of the skin	3872	KRT17	OMIM:167210
HP:0011123	Inflammatory abnormality of the skin	875	CBS	ORPHA:394
HP:0011123	Inflammatory abnormality of the skin	7156	TOP3A	OMIM:618097
HP:0011123	Inflammatory abnormality of the skin	8558	CDK10	OMIM:617694
HP:0011123	Inflammatory abnormality of the skin	2212	FCGR2A	OMIM:152700
HP:0011123	Inflammatory abnormality of the skin	843	CASP10	OMIM:603909
HP:0011123	Inflammatory abnormality of the skin	3939	LDHA	ORPHA:284426
HP:0011123	Inflammatory abnormality of the skin	54795	TRPM4	OMIM:618531
HP:0011123	Inflammatory abnormality of the skin	139818	DOCK11	OMIM:301109
HP:0011123	Inflammatory abnormality of the skin	219972	MPEG1	OMIM:619223
HP:0011123	Inflammatory abnormality of the skin	3551	IKBKB	OMIM:618204
HP:0011123	Inflammatory abnormality of the skin	3659	IRF1	OMIM:620668
HP:0011123	Inflammatory abnormality of the skin	5950	RBP4	OMIM:615147
HP:0011123	Inflammatory abnormality of the skin	23385	NCSTN	OMIM:142690
HP:0011123	Inflammatory abnormality of the skin	56983	POGLUT1	ORPHA:79145
HP:0011123	Inflammatory abnormality of the skin	23509	POFUT1	ORPHA:79145
HP:0011123	Inflammatory abnormality of the skin	171023	ASXL1	ORPHA:98850
HP:0011123	Inflammatory abnormality of the skin	54790	TET2	ORPHA:98850
HP:0011123	Inflammatory abnormality of the skin	867	CBL	ORPHA:98850
HP:0011123	Inflammatory abnormality of the skin	861	RUNX1	ORPHA:98850
HP:0011123	Inflammatory abnormality of the skin	6427	SRSF2	ORPHA:98850
HP:0011123	Inflammatory abnormality of the skin	2038	EPB42	ORPHA:822
HP:0011123	Inflammatory abnormality of the skin	6521	SLC4A1	ORPHA:822
HP:0011123	Inflammatory abnormality of the skin	6710	SPTB	ORPHA:822
HP:0011123	Inflammatory abnormality of the skin	6708	SPTA1	ORPHA:822
HP:0011123	Inflammatory abnormality of the skin	286	ANK1	ORPHA:822
HP:0011123	Inflammatory abnormality of the skin	57169	ZNFX1	OMIM:619644
HP:0011123	Inflammatory abnormality of the skin	7319	UBE2A	ORPHA:163956
HP:0011123	Inflammatory abnormality of the skin	3554	IL1R1	OMIM:259680
HP:0011123	Inflammatory abnormality of the skin	55630	SLC39A4	ORPHA:37
HP:0011123	Inflammatory abnormality of the skin	6340	SCNN1G	ORPHA:171876
HP:0011123	Inflammatory abnormality of the skin	6337	SCNN1A	ORPHA:171876
HP:0011123	Inflammatory abnormality of the skin	6338	SCNN1B	ORPHA:171876
HP:0011123	Inflammatory abnormality of the skin	1508	CTSB	ORPHA:50943
HP:0002728	Chronic mucocutaneous candidiasis	3561	IL2RG	ORPHA:276
HP:0002728	Chronic mucocutaneous candidiasis	84905	ZNF341	OMIM:618282
HP:0002728	Chronic mucocutaneous candidiasis	57724	EPG5	OMIM:242840
HP:0002728	Chronic mucocutaneous candidiasis	3689	ITGB2	OMIM:116920
HP:0002728	Chronic mucocutaneous candidiasis	5994	RFXAP	ORPHA:572
HP:0002728	Chronic mucocutaneous candidiasis	4261	CIITA	ORPHA:572
HP:0002728	Chronic mucocutaneous candidiasis	4261	CIITA	OMIM:209920
HP:0002728	Chronic mucocutaneous candidiasis	5993	RFX5	ORPHA:572
HP:0002728	Chronic mucocutaneous candidiasis	8625	RFXANK	ORPHA:572
HP:0002728	Chronic mucocutaneous candidiasis	8625	RFXANK	OMIM:620815
HP:0002728	Chronic mucocutaneous candidiasis	6772	STAT1	ORPHA:391487
HP:0002728	Chronic mucocutaneous candidiasis	6772	STAT1	OMIM:614162
HP:0002728	Chronic mucocutaneous candidiasis	3572	IL6ST	OMIM:619752
HP:0002728	Chronic mucocutaneous candidiasis	326	AIRE	OMIM:240300
HP:0002728	Chronic mucocutaneous candidiasis	326	AIRE	ORPHA:3453
HP:0002728	Chronic mucocutaneous candidiasis	6774	STAT3	ORPHA:2314
HP:0002728	Chronic mucocutaneous candidiasis	6774	STAT3	OMIM:147060
HP:0002728	Chronic mucocutaneous candidiasis	100	ADA	OMIM:102700
HP:0002728	Chronic mucocutaneous candidiasis	84818	IL17RC	OMIM:616445
HP:0002728	Chronic mucocutaneous candidiasis	9020	MAP3K14	OMIM:620449
HP:0002728	Chronic mucocutaneous candidiasis	3551	IKBKB	OMIM:618204
HP:0002728	Chronic mucocutaneous candidiasis	23765	IL17RA	OMIM:613953
HP:0002728	Chronic mucocutaneous candidiasis	5238	PGM3	OMIM:615816
HP:0002728	Chronic mucocutaneous candidiasis	112744	IL17F	OMIM:613956
HP:0002728	Chronic mucocutaneous candidiasis	6789	STK4	OMIM:614868
HP:0002728	Chronic mucocutaneous candidiasis	3575	IL7R	OMIM:608971
HP:0002728	Chronic mucocutaneous candidiasis	3431	SP110	ORPHA:79124
HP:0002728	Chronic mucocutaneous candidiasis	6720	SREBF1	OMIM:158310
HP:0002728	Chronic mucocutaneous candidiasis	146206	CARMIL2	OMIM:618131
HP:0002728	Chronic mucocutaneous candidiasis	7535	ZAP70	ORPHA:911
HP:0002728	Chronic mucocutaneous candidiasis	8517	IKBKG	ORPHA:98813
HP:0002728	Chronic mucocutaneous candidiasis	4792	NFKBIA	ORPHA:98813
HP:0002728	Chronic mucocutaneous candidiasis	64170	CARD9	OMIM:212050
HP:0002728	Chronic mucocutaneous candidiasis	915	CD3D	ORPHA:169160
HP:0002728	Chronic mucocutaneous candidiasis	916	CD3E	ORPHA:169160
HP:0002728	Chronic mucocutaneous candidiasis	919	CD247	ORPHA:169160
HP:0002728	Chronic mucocutaneous candidiasis	64421	DCLRE1C	ORPHA:275
HP:0002728	Chronic mucocutaneous candidiasis	7037	TFRC	OMIM:616740
HP:0002728	Chronic mucocutaneous candidiasis	4688	NCF2	OMIM:233710
HP:0002728	Chronic mucocutaneous candidiasis	6097	RORC	OMIM:616622
HP:0002728	Chronic mucocutaneous candidiasis	4598	MVK	OMIM:260920
HP:0002728	Chronic mucocutaneous candidiasis	3932	LCK	OMIM:615758
HP:0002728	Chronic mucocutaneous candidiasis	959	CD40LG	OMIM:308230
HP:0002728	Chronic mucocutaneous candidiasis	5293	PIK3CD	ORPHA:221139
HP:0002728	Chronic mucocutaneous candidiasis	90417	KNSTRN	ORPHA:221139
HP:0002728	Chronic mucocutaneous candidiasis	8546	AP3B1	OMIM:608233
HP:0002728	Chronic mucocutaneous candidiasis	51311	TLR8	OMIM:301078
HP:0002728	Chronic mucocutaneous candidiasis	9948	WDR1	OMIM:150550
HP:0002728	Chronic mucocutaneous candidiasis	5699	PSMB10	OMIM:620807
HP:0002728	Chronic mucocutaneous candidiasis	28755	TRAC	OMIM:615387
HP:0002728	Chronic mucocutaneous candidiasis	11151	CORO1A	OMIM:615401
HP:0002728	Chronic mucocutaneous candidiasis	1794	DOCK2	OMIM:616433
HP:0002728	Chronic mucocutaneous candidiasis	10758	TRAF3IP2	OMIM:615527
HP:0002728	Chronic mucocutaneous candidiasis	8456	FOXN1	ORPHA:83471
HP:0002728	Chronic mucocutaneous candidiasis	917	CD3G	OMIM:615607
HP:0002728	Chronic mucocutaneous candidiasis	3559	IL2RA	OMIM:606367
HP:0002728	Chronic mucocutaneous candidiasis	3718	JAK3	ORPHA:35078
HP:0002728	Chronic mucocutaneous candidiasis	64581	CLEC7A	OMIM:613108
HP:0002729	Follicular hyperplasia	6850	SYK	OMIM:619381
HP:0002729	Follicular hyperplasia	4893	NRAS	OMIM:614470
HP:0002729	Follicular hyperplasia	3845	KRAS	OMIM:614470
HP:0002729	Follicular hyperplasia	115650	TNFRSF13C	OMIM:240500
HP:0002729	Follicular hyperplasia	29851	ICOS	OMIM:240500
HP:0002729	Follicular hyperplasia	930	CD19	OMIM:240500
HP:0002729	Follicular hyperplasia	23495	TNFRSF13B	OMIM:240500
HP:0002729	Follicular hyperplasia	1380	CR2	OMIM:240500
HP:0002729	Follicular hyperplasia	54790	TET2	OMIM:619126
HP:0002729	Follicular hyperplasia	356	FASLG	OMIM:601859
HP:0002729	Follicular hyperplasia	355	FAS	OMIM:601859
HP:0002729	Follicular hyperplasia	843	CASP10	OMIM:603909
HP:0002729	Follicular hyperplasia	5580	PRKCD	OMIM:615559
HP:0002729	Follicular hyperplasia	340061	STING1	OMIM:615934
HP:0002729	Follicular hyperplasia	56259	CTNNBL1	OMIM:619846
HP:0005982	Reduced phenylalanine hydroxylase level	5053	PAH	OMIM:261600
HP:0011432	Elevated maternal circulating alpha-fetoprotein concentration	286204	CRB2	OMIM:219730
HP:0011432	Elevated maternal circulating alpha-fetoprotein concentration	11342	RNF13	ORPHA:544503
HP:0011432	Elevated maternal circulating alpha-fetoprotein concentration	3691	ITGB4	OMIM:226730
HP:0011432	Elevated maternal circulating alpha-fetoprotein concentration	5339	PLEC	OMIM:226730
HP:0011432	Elevated maternal circulating alpha-fetoprotein concentration	4952	OCRL	OMIM:309000
HP:0004639	Elevated amniotic fluid alpha-fetoprotein	4868	NPHS1	ORPHA:839
HP:0004639	Elevated amniotic fluid alpha-fetoprotein	5631	PRPS1	ORPHA:423479
HP:0004639	Elevated amniotic fluid alpha-fetoprotein	54903	MKS1	OMIM:249000
HP:0004639	Elevated amniotic fluid alpha-fetoprotein	4952	OCRL	OMIM:309000
HP:0005986	Limitation of neck motion	9241	NOG	OMIM:184460
HP:0005986	Limitation of neck motion	6335	SCN9A	ORPHA:33069
HP:0005986	Limitation of neck motion	6326	SCN2A	ORPHA:33069
HP:0005986	Limitation of neck motion	2554	GABRA1	ORPHA:33069
HP:0005986	Limitation of neck motion	6323	SCN1A	ORPHA:33069
HP:0005986	Limitation of neck motion	6324	SCN1B	ORPHA:33069
HP:0005986	Limitation of neck motion	57526	PCDH19	ORPHA:33069
HP:0005986	Limitation of neck motion	2566	GABRG2	ORPHA:33069
HP:0005986	Limitation of neck motion	29895	MYL11	OMIM:619110
HP:0005986	Limitation of neck motion	9573	GDF3	ORPHA:2345
HP:0005986	Limitation of neck motion	392255	GDF6	ORPHA:2345
HP:0005986	Limitation of neck motion	4222	MEOX1	ORPHA:2345
HP:0005986	Limitation of neck motion	90	ACVR1	OMIM:135100
HP:0005986	Limitation of neck motion	57190	SELENON	OMIM:602771
HP:0005986	Limitation of neck motion	57190	SELENON	ORPHA:324604
HP:0005986	Limitation of neck motion	4625	MYH7	ORPHA:324604
HP:0005986	Limitation of neck motion	7273	TTN	ORPHA:324604
HP:0005986	Limitation of neck motion	2273	FHL1	OMIM:300696
HP:0005986	Limitation of neck motion	4000	LMNA	OMIM:181350
HP:0005986	Limitation of neck motion	11160	ERLIN2	ORPHA:209951
HP:0005986	Limitation of neck motion	4621	MYH3	OMIM:193700
HP:0005986	Limitation of neck motion	1292	COL6A2	OMIM:255600
HP:0005986	Limitation of neck motion	91754	NEK9	OMIM:617022
HP:0005986	Limitation of neck motion	4722	NDUFS3	OMIM:618230
HP:0005986	Limitation of neck motion	1280	COL2A1	OMIM:616583
HP:0005986	Limitation of neck motion	22943	DKK1	ORPHA:268882
HP:0005986	Limitation of neck motion	54820	NDE1	ORPHA:2177
HP:0005986	Limitation of neck motion	355	FAS	ORPHA:3437
HP:0005986	Limitation of neck motion	26191	PTPN22	ORPHA:3437
HP:0005986	Limitation of neck motion	3661	IRF3	OMIM:616532
HP:0005986	Limitation of neck motion	773	CACNA1A	ORPHA:569
HP:0005986	Limitation of neck motion	112476	PRRT2	ORPHA:569
HP:0005986	Limitation of neck motion	477	ATP1A2	ORPHA:569
HP:0005986	Limitation of neck motion	7187	TRAF3	ORPHA:1930
HP:0005986	Limitation of neck motion	81622	UNC93B1	ORPHA:1930
HP:0005986	Limitation of neck motion	148022	TICAM1	ORPHA:1930
HP:0005986	Limitation of neck motion	7098	TLR3	ORPHA:1930
HP:0005986	Limitation of neck motion	29110	TBK1	ORPHA:1930
HP:0005987	Multinodular goiter	23405	DICER1	OMIM:180295
HP:0005987	Multinodular goiter	23405	DICER1	ORPHA:276399
HP:0005987	Multinodular goiter	7840	ALMS1	OMIM:203800
HP:0005987	Multinodular goiter	9817	KEAP1	ORPHA:276399
HP:0005987	Multinodular goiter	8379	MAD1L1	OMIM:620189
HP:0005987	Multinodular goiter	83550	GPR101	ORPHA:963
HP:0005987	Multinodular goiter	9049	AIP	ORPHA:963
HP:0005987	Multinodular goiter	23328	SASH1	OMIM:618373
HP:0005988	Congenital muscular torticollis	1303	COL12A1	ORPHA:536516
HP:0005988	Congenital muscular torticollis	23040	MYT1L	ORPHA:647799
HP:0005988	Congenital muscular torticollis	392255	GDF6	OMIM:118100
HP:0005988	Congenital muscular torticollis	392255	GDF6	ORPHA:2345
HP:0005988	Congenital muscular torticollis	5528	PPP2R5D	OMIM:616355
HP:0005988	Congenital muscular torticollis	5528	PPP2R5D	ORPHA:457279
HP:0005988	Congenital muscular torticollis	1291	COL6A1	OMIM:158810
HP:0005988	Congenital muscular torticollis	9573	GDF3	ORPHA:2345
HP:0005988	Congenital muscular torticollis	4222	MEOX1	ORPHA:2345
HP:0005988	Congenital muscular torticollis	8831	SYNGAP1	OMIM:612621
HP:0005989	Redundant neck skin	23545	ATP6V0A2	ORPHA:357074
HP:0005989	Redundant neck skin	523	ATP6V1A	ORPHA:357074
HP:0005989	Redundant neck skin	529	ATP6V1E1	ORPHA:357074
HP:0005989	Redundant neck skin	84231	TRAF7	OMIM:618164
HP:0005989	Redundant neck skin	54496	PRMT7	OMIM:617157
HP:0005989	Redundant neck skin	8260	NAA10	OMIM:300855
HP:0005989	Redundant neck skin	2006	ELN	ORPHA:90348
HP:0005989	Redundant neck skin	10516	FBLN5	ORPHA:90348
HP:0005989	Redundant neck skin	5832	ALDH18A1	ORPHA:90348
HP:0005989	Redundant neck skin	55165	CEP55	OMIM:236500
HP:0005989	Redundant neck skin	6913	TBX15	ORPHA:93333
HP:0005989	Redundant neck skin	55593	OTUD5	OMIM:301056
HP:0005989	Redundant neck skin	9896	FIG4	OMIM:216340
HP:0005989	Redundant neck skin	9896	FIG4	ORPHA:3472
HP:0005989	Redundant neck skin	56945	MRPS22	OMIM:611719
HP:0005989	Redundant neck skin	79848	CSPP1	ORPHA:397715
HP:0005989	Redundant neck skin	9786	KIAA0586	ORPHA:397715
HP:0005989	Redundant neck skin	10682	EBP	OMIM:300960
HP:0005989	Redundant neck skin	55697	VAC14	ORPHA:3472
HP:0005989	Redundant neck skin	4716	NDUFB10	OMIM:619003
HP:0005989	Redundant neck skin	285590	SH3PXD2B	OMIM:249420
HP:0005989	Redundant neck skin	22884	WDR37	OMIM:618652
HP:0005989	Redundant neck skin	8621	CDK13	OMIM:617360
HP:0005989	Redundant neck skin	388015	RTL1	ORPHA:254528
HP:0005989	Redundant neck skin	388015	RTL1	ORPHA:96334
HP:0005989	Redundant neck skin	8788	DLK1	ORPHA:254528
HP:0005989	Redundant neck skin	8788	DLK1	ORPHA:96334
HP:0005989	Redundant neck skin	55384	MEG3	ORPHA:254528
HP:0005989	Redundant neck skin	55384	MEG3	ORPHA:96334
HP:0005989	Redundant neck skin	5277	PIGA	OMIM:300868
HP:0005989	Redundant neck skin	10801	SEPTIN9	ORPHA:2901
HP:0005989	Redundant neck skin	2263	FGFR2	OMIM:123790
HP:0005989	Redundant neck skin	51021	MRPS16	OMIM:610498
HP:0005989	Redundant neck skin	124997	WDR81	OMIM:617967
HP:0005989	Redundant neck skin	8216	LZTR1	OMIM:605275
HP:0005989	Redundant neck skin	3265	HRAS	OMIM:218040
HP:0005989	Redundant neck skin	2683	B4GALT1	ORPHA:79332
HP:0005989	Redundant neck skin	5189	PEX1	OMIM:214100
HP:0002730	Chronic noninfectious lymphadenopathy	546	ATRX	ORPHA:100075
HP:0002730	Chronic noninfectious lymphadenopathy	355	FAS	ORPHA:3261
HP:0002730	Chronic noninfectious lymphadenopathy	355	FAS	OMIM:601859
HP:0002730	Chronic noninfectious lymphadenopathy	356	FASLG	ORPHA:3261
HP:0002730	Chronic noninfectious lymphadenopathy	356	FASLG	OMIM:601859
HP:0002730	Chronic noninfectious lymphadenopathy	843	CASP10	ORPHA:3261
HP:0002730	Chronic noninfectious lymphadenopathy	843	CASP10	OMIM:603909
HP:0002730	Chronic noninfectious lymphadenopathy	6392	SDHD	ORPHA:100093
HP:0002730	Chronic noninfectious lymphadenopathy	2304	FOXE1	ORPHA:319487
HP:0002730	Chronic noninfectious lymphadenopathy	3026	HABP2	ORPHA:319487
HP:0002730	Chronic noninfectious lymphadenopathy	9562	MINPP1	ORPHA:319487
HP:0002730	Chronic noninfectious lymphadenopathy	19	ABCA1	ORPHA:31150
HP:0002731	Decreased lymphocyte apoptosis	843	CASP10	OMIM:603909
HP:0002731	Decreased lymphocyte apoptosis	4893	NRAS	OMIM:614470
HP:0002731	Decreased lymphocyte apoptosis	3845	KRAS	OMIM:614470
HP:0002731	Decreased lymphocyte apoptosis	356	FASLG	OMIM:601859
HP:0002731	Decreased lymphocyte apoptosis	355	FAS	OMIM:601859
HP:0002731	Decreased lymphocyte apoptosis	841	CASP8	OMIM:607271
HP:0002732	Lymph node hypoplasia	3561	IL2RG	ORPHA:276
HP:0002732	Lymph node hypoplasia	4860	PNP	OMIM:613179
HP:0002732	Lymph node hypoplasia	695	BTK	OMIM:300755
HP:0002732	Lymph node hypoplasia	2050	EPHB4	ORPHA:90186
HP:0002732	Lymph node hypoplasia	64421	DCLRE1C	OMIM:602450
HP:0002733	Abnormal lymph node morphology	64170	CARD9	OMIM:212050
HP:0002733	Abnormal lymph node morphology	171023	ASXL1	ORPHA:98850
HP:0002733	Abnormal lymph node morphology	171023	ASXL1	ORPHA:98849
HP:0002733	Abnormal lymph node morphology	54790	TET2	ORPHA:98850
HP:0002733	Abnormal lymph node morphology	54790	TET2	ORPHA:98849
HP:0002733	Abnormal lymph node morphology	54790	TET2	ORPHA:824
HP:0002733	Abnormal lymph node morphology	54790	TET2	OMIM:619126
HP:0002733	Abnormal lymph node morphology	867	CBL	ORPHA:98850
HP:0002733	Abnormal lymph node morphology	861	RUNX1	ORPHA:98850
HP:0002733	Abnormal lymph node morphology	6427	SRSF2	ORPHA:98850
HP:0002733	Abnormal lymph node morphology	6427	SRSF2	ORPHA:98849
HP:0002733	Abnormal lymph node morphology	355	FAS	ORPHA:3261
HP:0002733	Abnormal lymph node morphology	355	FAS	ORPHA:117
HP:0002733	Abnormal lymph node morphology	356	FASLG	ORPHA:3261
HP:0002733	Abnormal lymph node morphology	843	CASP10	ORPHA:3261
HP:0002733	Abnormal lymph node morphology	843	CASP10	OMIM:603909
HP:0002733	Abnormal lymph node morphology	90268	OTULIN	OMIM:617099
HP:0002733	Abnormal lymph node morphology	3071	NCKAP1L	OMIM:618982
HP:0002733	Abnormal lymph node morphology	144811	LACC1	ORPHA:85414
HP:0002733	Abnormal lymph node morphology	4282	MIF	ORPHA:85414
HP:0002733	Abnormal lymph node morphology	3569	IL6	ORPHA:85414
HP:0002733	Abnormal lymph node morphology	114548	NLRP3	OMIM:617772
HP:0002733	Abnormal lymph node morphology	114548	NLRP3	OMIM:607115
HP:0002733	Abnormal lymph node morphology	114548	NLRP3	ORPHA:1451
HP:0002733	Abnormal lymph node morphology	1493	CTLA4	ORPHA:436159
HP:0002733	Abnormal lymph node morphology	1493	CTLA4	OMIM:616100
HP:0002733	Abnormal lymph node morphology	1493	CTLA4	ORPHA:2584
HP:0002733	Abnormal lymph node morphology	1493	CTLA4	ORPHA:536
HP:0002733	Abnormal lymph node morphology	1493	CTLA4	ORPHA:3162
HP:0002733	Abnormal lymph node morphology	4598	MVK	OMIM:260920
HP:0002733	Abnormal lymph node morphology	4598	MVK	OMIM:610377
HP:0002733	Abnormal lymph node morphology	4598	MVK	ORPHA:343
HP:0002733	Abnormal lymph node morphology	3815	KIT	ORPHA:98849
HP:0002733	Abnormal lymph node morphology	3815	KIT	ORPHA:79455
HP:0002733	Abnormal lymph node morphology	987	LRBA	OMIM:614700
HP:0002733	Abnormal lymph node morphology	811	CALR	ORPHA:824
HP:0002733	Abnormal lymph node morphology	4352	MPL	ORPHA:824
HP:0002733	Abnormal lymph node morphology	3717	JAK2	ORPHA:824
HP:0002733	Abnormal lymph node morphology	7518	XRCC4	ORPHA:99812
HP:0002733	Abnormal lymph node morphology	3981	LIG4	ORPHA:99812
HP:0002733	Abnormal lymph node morphology	3981	LIG4	ORPHA:39041
HP:0002733	Abnormal lymph node morphology	7174	TPP2	ORPHA:444463
HP:0002733	Abnormal lymph node morphology	7174	TPP2	OMIM:619220
HP:0002733	Abnormal lymph node morphology	5604	MAP2K1	ORPHA:389
HP:0002733	Abnormal lymph node morphology	4893	NRAS	ORPHA:389
HP:0002733	Abnormal lymph node morphology	673	BRAF	ORPHA:389
HP:0002733	Abnormal lymph node morphology	6775	STAT4	ORPHA:85408
HP:0002733	Abnormal lymph node morphology	6775	STAT4	ORPHA:117
HP:0002733	Abnormal lymph node morphology	6775	STAT4	ORPHA:93552
HP:0002733	Abnormal lymph node morphology	6775	STAT4	ORPHA:536
HP:0002733	Abnormal lymph node morphology	3560	IL2RB	ORPHA:85408
HP:0002733	Abnormal lymph node morphology	3560	IL2RB	OMIM:618495
HP:0002733	Abnormal lymph node morphology	79722	ANKRD55	ORPHA:85408
HP:0002733	Abnormal lymph node morphology	26191	PTPN22	ORPHA:85408
HP:0002733	Abnormal lymph node morphology	26191	PTPN22	ORPHA:536
HP:0002733	Abnormal lymph node morphology	919	CD247	ORPHA:85408
HP:0002733	Abnormal lymph node morphology	3559	IL2RA	ORPHA:85408
HP:0002733	Abnormal lymph node morphology	3559	IL2RA	OMIM:606367
HP:0002733	Abnormal lymph node morphology	5771	PTPN2	ORPHA:85408
HP:0002733	Abnormal lymph node morphology	939	CD27	OMIM:615122
HP:0002733	Abnormal lymph node morphology	23149	FCHO1	OMIM:619164
HP:0002733	Abnormal lymph node morphology	2130	EWSR1	ORPHA:83469
HP:0002733	Abnormal lymph node morphology	7490	WT1	ORPHA:83469
HP:0002733	Abnormal lymph node morphology	7490	WT1	ORPHA:654
HP:0002733	Abnormal lymph node morphology	3162	HMOX1	OMIM:614034
HP:0002733	Abnormal lymph node morphology	841	CASP8	OMIM:607271
HP:0002733	Abnormal lymph node morphology	8456	FOXN1	ORPHA:83471
HP:0002733	Abnormal lymph node morphology	56259	CTNNBL1	OMIM:619846
HP:0002733	Abnormal lymph node morphology	1277	COL1A1	ORPHA:31112
HP:0002733	Abnormal lymph node morphology	5155	PDGFB	ORPHA:31112
HP:0002733	Abnormal lymph node morphology	54	ACP5	OMIM:607944
HP:0002733	Abnormal lymph node morphology	6772	STAT1	OMIM:614162
HP:0002733	Abnormal lymph node morphology	115650	TNFRSF13C	OMIM:240500
HP:0002733	Abnormal lymph node morphology	115650	TNFRSF13C	ORPHA:1572
HP:0002733	Abnormal lymph node morphology	29851	ICOS	OMIM:240500
HP:0002733	Abnormal lymph node morphology	29851	ICOS	OMIM:607594
HP:0002733	Abnormal lymph node morphology	29851	ICOS	ORPHA:1572
HP:0002733	Abnormal lymph node morphology	930	CD19	OMIM:240500
HP:0002733	Abnormal lymph node morphology	930	CD19	ORPHA:1572
HP:0002733	Abnormal lymph node morphology	23495	TNFRSF13B	OMIM:240500
HP:0002733	Abnormal lymph node morphology	23495	TNFRSF13B	ORPHA:1572
HP:0002733	Abnormal lymph node morphology	1380	CR2	OMIM:240500
HP:0002733	Abnormal lymph node morphology	1380	CR2	ORPHA:536
HP:0002733	Abnormal lymph node morphology	1380	CR2	ORPHA:1572
HP:0002733	Abnormal lymph node morphology	6786	STIM1	OMIM:612783
HP:0002733	Abnormal lymph node morphology	1130	LYST	ORPHA:167
HP:0002733	Abnormal lymph node morphology	1130	LYST	OMIM:214500
HP:0002733	Abnormal lymph node morphology	56984	PSMG2	OMIM:619183
HP:0002733	Abnormal lymph node morphology	7374	UNG	OMIM:608106
HP:0002733	Abnormal lymph node morphology	28755	TRAC	OMIM:615387
HP:0002733	Abnormal lymph node morphology	10125	RASGRP1	OMIM:618534
HP:0002733	Abnormal lymph node morphology	595	CCND1	ORPHA:52416
HP:0002733	Abnormal lymph node morphology	595	CCND1	ORPHA:29073
HP:0002733	Abnormal lymph node morphology	472	ATM	ORPHA:52416
HP:0002733	Abnormal lymph node morphology	3492	IGH	ORPHA:52416
HP:0002733	Abnormal lymph node morphology	3492	IGH	ORPHA:52417
HP:0002733	Abnormal lymph node morphology	3492	IGH	ORPHA:545
HP:0002733	Abnormal lymph node morphology	330	BIRC3	ORPHA:52417
HP:0002733	Abnormal lymph node morphology	10892	MALT1	ORPHA:52417
HP:0002733	Abnormal lymph node morphology	27086	FOXP1	ORPHA:52417
HP:0002733	Abnormal lymph node morphology	8915	BCL10	ORPHA:52417
HP:0002733	Abnormal lymph node morphology	3572	IL6ST	OMIM:619750
HP:0002733	Abnormal lymph node morphology	9508	ADAMTS3	ORPHA:2136
HP:0002733	Abnormal lymph node morphology	147372	CCBE1	ORPHA:2136
HP:0002733	Abnormal lymph node morphology	79633	FAT4	ORPHA:2136
HP:0002733	Abnormal lymph node morphology	9636	ISG15	OMIM:616126
HP:0002733	Abnormal lymph node morphology	6049	RNF6	ORPHA:99977
HP:0002733	Abnormal lymph node morphology	7048	TGFBR2	ORPHA:99977
HP:0002733	Abnormal lymph node morphology	51741	WWOX	ORPHA:99977
HP:0002733	Abnormal lymph node morphology	9940	DLEC1	ORPHA:99977
HP:0002733	Abnormal lymph node morphology	6609	SMPD1	OMIM:257200
HP:0002733	Abnormal lymph node morphology	5896	RAG1	OMIM:603554
HP:0002733	Abnormal lymph node morphology	5896	RAG1	ORPHA:39041
HP:0002733	Abnormal lymph node morphology	5897	RAG2	OMIM:603554
HP:0002733	Abnormal lymph node morphology	5897	RAG2	ORPHA:39041
HP:0002733	Abnormal lymph node morphology	64421	DCLRE1C	OMIM:603554
HP:0002733	Abnormal lymph node morphology	64421	DCLRE1C	ORPHA:39041
HP:0002733	Abnormal lymph node morphology	4210	MEFV	ORPHA:342
HP:0002733	Abnormal lymph node morphology	4210	MEFV	ORPHA:117
HP:0002733	Abnormal lymph node morphology	5551	PRF1	OMIM:603553
HP:0002733	Abnormal lymph node morphology	5551	PRF1	ORPHA:540
HP:0002733	Abnormal lymph node morphology	3575	IL7R	ORPHA:169154
HP:0002733	Abnormal lymph node morphology	3575	IL7R	ORPHA:39041
HP:0002733	Abnormal lymph node morphology	3575	IL7R	OMIM:608971
HP:0002733	Abnormal lymph node morphology	8676	STX11	OMIM:603552
HP:0002733	Abnormal lymph node morphology	8676	STX11	ORPHA:540
HP:0002733	Abnormal lymph node morphology	5728	PTEN	ORPHA:397596
HP:0002733	Abnormal lymph node morphology	5293	PIK3CD	ORPHA:397596
HP:0002733	Abnormal lymph node morphology	5293	PIK3CD	OMIM:615513
HP:0002733	Abnormal lymph node morphology	5295	PIK3R1	ORPHA:397596
HP:0002733	Abnormal lymph node morphology	57169	ZNFX1	OMIM:619644
HP:0002733	Abnormal lymph node morphology	8314	BAP1	ORPHA:50251
HP:0002733	Abnormal lymph node morphology	5692	PSMB4	OMIM:617591
HP:0002733	Abnormal lymph node morphology	8565	YARS1	OMIM:619418
HP:0002733	Abnormal lymph node morphology	50943	FOXP3	ORPHA:37042
HP:0002733	Abnormal lymph node morphology	50943	FOXP3	OMIM:304790
HP:0002733	Abnormal lymph node morphology	1535	CYBA	OMIM:233690
HP:0002733	Abnormal lymph node morphology	64127	NOD2	ORPHA:90340
HP:0002733	Abnormal lymph node morphology	29110	TBK1	OMIM:620880
HP:0002733	Abnormal lymph node morphology	51311	TLR8	OMIM:301078
HP:0002733	Abnormal lymph node morphology	4615	MYD88	ORPHA:33226
HP:0002733	Abnormal lymph node morphology	1536	CYBB	OMIM:306400
HP:0002733	Abnormal lymph node morphology	3394	IRF8	OMIM:614893
HP:0002733	Abnormal lymph node morphology	3394	IRF8	ORPHA:319600
HP:0002733	Abnormal lymph node morphology	940	CD28	ORPHA:2584
HP:0002733	Abnormal lymph node morphology	940	CD28	ORPHA:3162
HP:0002733	Abnormal lymph node morphology	7133	TNFRSF1B	ORPHA:2584
HP:0002733	Abnormal lymph node morphology	7133	TNFRSF1B	ORPHA:3162
HP:0002733	Abnormal lymph node morphology	149233	IL23R	ORPHA:117
HP:0002733	Abnormal lymph node morphology	3586	IL10	ORPHA:117
HP:0002733	Abnormal lymph node morphology	3586	IL10	ORPHA:536
HP:0002733	Abnormal lymph node morphology	1230	CCR1	ORPHA:117
HP:0002733	Abnormal lymph node morphology	3592	IL12A	ORPHA:117
HP:0002733	Abnormal lymph node morphology	101928376	IL12A-AS1	ORPHA:117
HP:0002733	Abnormal lymph node morphology	3106	HLA-B	ORPHA:117
HP:0002733	Abnormal lymph node morphology	7099	TLR4	ORPHA:117
HP:0002733	Abnormal lymph node morphology	3459	IFNGR1	ORPHA:117
HP:0002733	Abnormal lymph node morphology	3459	IFNGR1	OMIM:209950
HP:0002733	Abnormal lymph node morphology	720	C4A	ORPHA:117
HP:0002733	Abnormal lymph node morphology	720	C4A	ORPHA:536
HP:0002733	Abnormal lymph node morphology	337867	UBAC2	ORPHA:117
HP:0002733	Abnormal lymph node morphology	51752	ERAP1	ORPHA:117
HP:0002733	Abnormal lymph node morphology	8302	KLRC4	ORPHA:117
HP:0002733	Abnormal lymph node morphology	4688	NCF2	OMIM:233710
HP:0002733	Abnormal lymph node morphology	100151683	RNU4ATAC	ORPHA:353298
HP:0002733	Abnormal lymph node morphology	100151683	RNU4ATAC	OMIM:616651
HP:0002733	Abnormal lymph node morphology	6696	SPP1	ORPHA:93552
HP:0002733	Abnormal lymph node morphology	6696	SPP1	ORPHA:536
HP:0002733	Abnormal lymph node morphology	6303	SAT1	ORPHA:93552
HP:0002733	Abnormal lymph node morphology	3654	IRAK1	ORPHA:93552
HP:0002733	Abnormal lymph node morphology	3654	IRAK1	ORPHA:536
HP:0002733	Abnormal lymph node morphology	1776	DNASE1L3	ORPHA:36412
HP:0002733	Abnormal lymph node morphology	596	BCL2	ORPHA:545
HP:0002733	Abnormal lymph node morphology	604	BCL6	ORPHA:545
HP:0002733	Abnormal lymph node morphology	4173	MCM4	OMIM:609981
HP:0002733	Abnormal lymph node morphology	10312	TCIRG1	ORPHA:667
HP:0002733	Abnormal lymph node morphology	1186	CLCN7	ORPHA:667
HP:0002733	Abnormal lymph node morphology	29887	SNX10	ORPHA:667
HP:0002733	Abnormal lymph node morphology	8600	TNFSF11	ORPHA:667
HP:0002733	Abnormal lymph node morphology	201294	UNC13D	ORPHA:540
HP:0002733	Abnormal lymph node morphology	6813	STXBP2	ORPHA:540
HP:0002733	Abnormal lymph node morphology	6813	STXBP2	OMIM:613101
HP:0002733	Abnormal lymph node morphology	55315	SLC29A3	OMIM:602782
HP:0002733	Abnormal lymph node morphology	55315	SLC29A3	ORPHA:168569
HP:0002733	Abnormal lymph node morphology	57379	AICDA	OMIM:605258
HP:0002733	Abnormal lymph node morphology	9948	WDR1	OMIM:150550
HP:0002733	Abnormal lymph node morphology	7248	TSC1	ORPHA:538
HP:0002733	Abnormal lymph node morphology	7249	TSC2	ORPHA:538
HP:0002733	Abnormal lymph node morphology	81858	SHARPIN	OMIM:620795
HP:0002733	Abnormal lymph node morphology	7132	TNFRSF1A	ORPHA:32960
HP:0002733	Abnormal lymph node morphology	9837	GINS1	OMIM:617827
HP:0002733	Abnormal lymph node morphology	1991	ELANE	ORPHA:2686
HP:0002733	Abnormal lymph node morphology	5978	REST	ORPHA:654
HP:0002733	Abnormal lymph node morphology	129563	DIS3L2	ORPHA:654
HP:0002733	Abnormal lymph node morphology	675	BRCA2	ORPHA:654
HP:0002733	Abnormal lymph node morphology	675	BRCA2	ORPHA:1333
HP:0002733	Abnormal lymph node morphology	9319	TRIP13	ORPHA:654
HP:0002733	Abnormal lymph node morphology	10155	TRIM28	ORPHA:654
HP:0002733	Abnormal lymph node morphology	11281	POU6F2	ORPHA:654
HP:0002733	Abnormal lymph node morphology	2719	GPC3	ORPHA:654
HP:0002733	Abnormal lymph node morphology	283120	H19	ORPHA:654
HP:0002733	Abnormal lymph node morphology	4068	SH2D1A	OMIM:308240
HP:0002733	Abnormal lymph node morphology	331	XIAP	OMIM:308240
HP:0002733	Abnormal lymph node morphology	2215	FCGR3B	ORPHA:536
HP:0002733	Abnormal lymph node morphology	3684	ITGAM	ORPHA:536
HP:0002733	Abnormal lymph node morphology	221895	JAZF1	ORPHA:536
HP:0002733	Abnormal lymph node morphology	11277	TREX1	ORPHA:536
HP:0002733	Abnormal lymph node morphology	7292	TNFSF4	ORPHA:536
HP:0002733	Abnormal lymph node morphology	640	BLK	ORPHA:536
HP:0002733	Abnormal lymph node morphology	55024	BANK1	ORPHA:536
HP:0002733	Abnormal lymph node morphology	3500	IGHG1	ORPHA:536
HP:0002733	Abnormal lymph node morphology	5133	PDCD1	ORPHA:536
HP:0002733	Abnormal lymph node morphology	2113	ETS1	ORPHA:536
HP:0002733	Abnormal lymph node morphology	2213	FCGR2B	ORPHA:536
HP:0002733	Abnormal lymph node morphology	10318	TNIP1	ORPHA:536
HP:0002733	Abnormal lymph node morphology	7332	UBE2L3	ORPHA:536
HP:0002733	Abnormal lymph node morphology	79932	KIAA0319L	ORPHA:536
HP:0002733	Abnormal lymph node morphology	4204	MECP2	ORPHA:536
HP:0002733	Abnormal lymph node morphology	3663	IRF5	ORPHA:536
HP:0002733	Abnormal lymph node morphology	721	C4B	ORPHA:536
HP:0002733	Abnormal lymph node morphology	1773	DNASE1	ORPHA:536
HP:0002733	Abnormal lymph node morphology	51284	TLR7	ORPHA:536
HP:0002733	Abnormal lymph node morphology	54899	PXK	ORPHA:536
HP:0002733	Abnormal lymph node morphology	7128	TNFAIP3	ORPHA:536
HP:0002733	Abnormal lymph node morphology	427	ASAH1	ORPHA:333
HP:0002733	Abnormal lymph node morphology	84061	MAGT1	OMIM:300853
HP:0002733	Abnormal lymph node morphology	10616	RBCK1	OMIM:615895
HP:0002733	Abnormal lymph node morphology	10095	ARPC1B	OMIM:617718
HP:0002733	Abnormal lymph node morphology	440275	EIF2AK4	ORPHA:199241
HP:0002733	Abnormal lymph node morphology	79415	CYBC1	OMIM:618935
HP:0002733	Abnormal lymph node morphology	672	BRCA1	ORPHA:1333
HP:0002733	Abnormal lymph node morphology	285282	RABL3	ORPHA:1333
HP:0002733	Abnormal lymph node morphology	7157	TP53	ORPHA:1333
HP:0002733	Abnormal lymph node morphology	3845	KRAS	ORPHA:1333
HP:0002733	Abnormal lymph node morphology	1029	CDKN2A	ORPHA:1333
HP:0002733	Abnormal lymph node morphology	79728	PALB2	ORPHA:1333
HP:0002733	Abnormal lymph node morphology	4089	SMAD4	ORPHA:1333
HP:0002733	Abnormal lymph node morphology	23022	PALLD	ORPHA:1333
HP:0002733	Abnormal lymph node morphology	4790	NFKB1	ORPHA:1572
HP:0002733	Abnormal lymph node morphology	4791	NFKB2	ORPHA:1572
HP:0002733	Abnormal lymph node morphology	8742	TNFSF12	ORPHA:1572
HP:0002733	Abnormal lymph node morphology	931	MS4A1	ORPHA:1572
HP:0002733	Abnormal lymph node morphology	975	CD81	ORPHA:1572
HP:0002733	Abnormal lymph node morphology	359948	IRF2BP2	ORPHA:1572
HP:0002733	Abnormal lymph node morphology	359948	IRF2BP2	ORPHA:520
HP:0002733	Abnormal lymph node morphology	653361	NCF1	OMIM:233700
HP:0002733	Abnormal lymph node morphology	5873	RAB27A	ORPHA:79477
HP:0002733	Abnormal lymph node morphology	970	CD70	OMIM:618261
HP:0002733	Abnormal lymph node morphology	3702	ITK	OMIM:613011
HP:0002733	Abnormal lymph node morphology	5580	PRKCD	OMIM:615559
HP:0002733	Abnormal lymph node morphology	6023	RMRP	ORPHA:39041
HP:0002733	Abnormal lymph node morphology	55636	CHD7	ORPHA:39041
HP:0002733	Abnormal lymph node morphology	100	ADA	ORPHA:39041
HP:0002733	Abnormal lymph node morphology	3561	IL2RG	ORPHA:39041
HP:0002733	Abnormal lymph node morphology	51816	ADA2	OMIM:615688
HP:0002733	Abnormal lymph node morphology	3931	LCAT	ORPHA:79292
HP:0002733	Abnormal lymph node morphology	91662	NLRP12	OMIM:611762
HP:0002733	Abnormal lymph node morphology	5294	PIK3CG	OMIM:619802
HP:0002733	Abnormal lymph node morphology	51371	POMP	OMIM:618048
HP:0002733	Abnormal lymph node morphology	8651	SOCS1	OMIM:619375
HP:0002733	Abnormal lymph node morphology	27040	LAT	OMIM:617514
HP:0002733	Abnormal lymph node morphology	2624	GATA2	ORPHA:228423
HP:0002733	Abnormal lymph node morphology	6850	SYK	OMIM:619381
HP:0002733	Abnormal lymph node morphology	6774	STAT3	ORPHA:520
HP:0002733	Abnormal lymph node morphology	5371	PML	ORPHA:520
HP:0002733	Abnormal lymph node morphology	5914	RARA	ORPHA:520
HP:0002733	Abnormal lymph node morphology	81608	FIP1L1	ORPHA:520
HP:0002733	Abnormal lymph node morphology	4869	NPM1	ORPHA:520
HP:0002733	Abnormal lymph node morphology	5573	PRKAR1A	ORPHA:520
HP:0002733	Abnormal lymph node morphology	54880	BCOR	ORPHA:520
HP:0002733	Abnormal lymph node morphology	64859	NABP1	ORPHA:520
HP:0002733	Abnormal lymph node morphology	6777	STAT5B	ORPHA:520
HP:0002733	Abnormal lymph node morphology	4926	NUMA1	ORPHA:520
HP:0002733	Abnormal lymph node morphology	7704	ZBTB16	ORPHA:520
HP:0002733	Abnormal lymph node morphology	79718	TBL1XR1	ORPHA:520
HP:0002733	Abnormal lymph node morphology	8737	RIPK1	OMIM:618852
HP:0002733	Abnormal lymph node morphology	28985	MCTS1	OMIM:301115
HP:0002733	Abnormal lymph node morphology	5699	PSMB10	OMIM:620807
HP:0002733	Abnormal lymph node morphology	9051	PSTPIP1	ORPHA:69126
HP:0002733	Abnormal lymph node morphology	5696	PSMB8	OMIM:256040
HP:0002733	Abnormal lymph node morphology	4613	MYCN	ORPHA:635
HP:0002733	Abnormal lymph node morphology	238	ALK	ORPHA:635
HP:0002733	Abnormal lymph node morphology	389421	LIN28B	ORPHA:635
HP:0002733	Abnormal lymph node morphology	4004	LMO1	ORPHA:635
HP:0002733	Abnormal lymph node morphology	57531	HACE1	ORPHA:635
HP:0002733	Abnormal lymph node morphology	8929	PHOX2B	ORPHA:635
HP:0002733	Abnormal lymph node morphology	340061	STING1	OMIM:615934
HP:0002733	Abnormal lymph node morphology	546	ATRX	ORPHA:100075
HP:0002733	Abnormal lymph node morphology	6392	SDHD	ORPHA:100093
HP:0002733	Abnormal lymph node morphology	19	ABCA1	ORPHA:31150
HP:0002733	Abnormal lymph node morphology	4860	PNP	OMIM:613179
HP:0002733	Abnormal lymph node morphology	695	BTK	OMIM:300755
HP:0002733	Abnormal lymph node morphology	2050	EPHB4	ORPHA:90186
HP:0002733	Abnormal lymph node morphology	4609	MYC	ORPHA:543
HP:0002733	Abnormal lymph node morphology	83706	FERMT3	OMIM:612840
HP:0002733	Abnormal lymph node morphology	7535	ZAP70	ORPHA:911
HP:0002733	Abnormal lymph node morphology	2304	FOXE1	ORPHA:319487
HP:0002733	Abnormal lymph node morphology	3026	HABP2	ORPHA:319487
HP:0002733	Abnormal lymph node morphology	9562	MINPP1	ORPHA:319487
HP:0002733	Abnormal lymph node morphology	56244	BTNL2	ORPHA:797
HP:0002733	Abnormal lymph node morphology	3123	HLA-DRB1	ORPHA:797
HP:0002733	Abnormal lymph node morphology	5993	RFX5	OMIM:620816
HP:0002733	Abnormal lymph node morphology	6773	STAT2	OMIM:618886
HP:0002733	Abnormal lymph node morphology	5880	RAC2	OMIM:618986
HP:0002733	Abnormal lymph node morphology	3659	IRF1	OMIM:620668
HP:0002733	Abnormal lymph node morphology	3594	IL12RB1	ORPHA:319552
HP:0002733	Abnormal lymph node morphology	7852	CXCR4	ORPHA:51636
HP:0002733	Abnormal lymph node morphology	5788	PTPRC	OMIM:619924
HP:0002733	Abnormal lymph node morphology	958	CD40	OMIM:606843
HP:0002733	Abnormal lymph node morphology	3431	SP110	OMIM:235550
HP:0002733	Abnormal lymph node morphology	3431	SP110	ORPHA:79124
HP:0002733	Abnormal lymph node morphology	959	CD40LG	OMIM:308230
HP:0002733	Abnormal lymph node morphology	3604	TNFRSF9	OMIM:620282
HP:0002733	Abnormal lymph node morphology	64135	IFIH1	OMIM:615846
HP:0002733	Abnormal lymph node morphology	4773	NFATC2	OMIM:620232
HP:0002733	Abnormal lymph node morphology	165918	RNF168	ORPHA:420741
HP:0002733	Abnormal lymph node morphology	50619	DEF6	OMIM:619573
HP:0002733	Abnormal lymph node morphology	5335	PLCG1	OMIM:620514
HP:0002733	Abnormal lymph node morphology	6452	SH3BP2	OMIM:118400
HP:0002733	Abnormal lymph node morphology	3718	JAK3	OMIM:600802
HP:0002733	Abnormal lymph node morphology	8517	IKBKG	ORPHA:98813
HP:0002733	Abnormal lymph node morphology	4792	NFKBIA	ORPHA:98813
HP:0002733	Abnormal lymph node morphology	10551	AGR2	OMIM:620233
HP:0002733	Abnormal lymph node morphology	8974	P4HA2	ORPHA:397
HP:0002733	Abnormal lymph node morphology	3115	HLA-DPB1	ORPHA:133
HP:0002733	Abnormal lymph node morphology	348	APOE	ORPHA:158029
HP:0002733	Abnormal lymph node morphology	7015	TERT	OMIM:614742
HP:0002733	Abnormal lymph node morphology	3662	IRF4	ORPHA:3452
HP:0002733	Abnormal lymph node morphology	4689	NCF4	ORPHA:379
HP:0002843	Abnormal T cell morphology	5295	PIK3R1	OMIM:615214
HP:0002843	Abnormal T cell morphology	4860	PNP	ORPHA:760
HP:0002843	Abnormal T cell morphology	973	CD79A	OMIM:613501
HP:0002843	Abnormal T cell morphology	3543	IGLL1	OMIM:613500
HP:0002843	Abnormal T cell morphology	1493	CTLA4	ORPHA:3162
HP:0002843	Abnormal T cell morphology	940	CD28	ORPHA:3162
HP:0002843	Abnormal T cell morphology	7133	TNFRSF1B	ORPHA:3162
HP:0002843	Abnormal T cell morphology	29760	BLNK	OMIM:613502
HP:0002843	Abnormal T cell morphology	50485	SMARCAL1	OMIM:242900
HP:0002843	Abnormal T cell morphology	920	CD4	OMIM:613949
HP:0002843	Abnormal T cell morphology	974	CD79B	OMIM:612692
HP:0002843	Abnormal T cell morphology	100	ADA	ORPHA:277
HP:0002843	Abnormal T cell morphology	2137	EXTL3	ORPHA:508533
HP:0002843	Abnormal T cell morphology	1789	DNMT3B	OMIM:242860
HP:0002843	Abnormal T cell morphology	6772	STAT1	ORPHA:391487
HP:0002843	Abnormal T cell morphology	10043	TOM1	OMIM:619510
HP:0002843	Abnormal T cell morphology	6909	TBX2	OMIM:618223
HP:0002843	Abnormal T cell morphology	55388	MCM10	OMIM:619313
HP:0002843	Abnormal T cell morphology	8456	FOXN1	OMIM:601705
HP:0002843	Abnormal T cell morphology	8456	FOXN1	ORPHA:83471
HP:0002843	Abnormal T cell morphology	8456	FOXN1	OMIM:618806
HP:0002843	Abnormal T cell morphology	8456	FOXN1	ORPHA:169095
HP:0002843	Abnormal T cell morphology	5993	RFX5	OMIM:620816
HP:0002843	Abnormal T cell morphology	5993	RFX5	ORPHA:572
HP:0002843	Abnormal T cell morphology	4683	NBN	OMIM:251260
HP:0002843	Abnormal T cell morphology	3574	IL7	OMIM:618309
HP:0002843	Abnormal T cell morphology	5238	PGM3	ORPHA:443811
HP:0002843	Abnormal T cell morphology	5880	RAC2	OMIM:618986
HP:0002843	Abnormal T cell morphology	3659	IRF1	OMIM:620668
HP:0002843	Abnormal T cell morphology	5293	PIK3CD	OMIM:615513
HP:0002843	Abnormal T cell morphology	8737	RIPK1	OMIM:618108
HP:0002843	Abnormal T cell morphology	3575	IL7R	OMIM:608971
HP:0002843	Abnormal T cell morphology	3575	IL7R	ORPHA:169154
HP:0002843	Abnormal T cell morphology	9094	UNC119	OMIM:615518
HP:0002843	Abnormal T cell morphology	3718	JAK3	OMIM:600802
HP:0002843	Abnormal T cell morphology	3718	JAK3	ORPHA:35078
HP:0002843	Abnormal T cell morphology	23149	FCHO1	OMIM:619164
HP:0002843	Abnormal T cell morphology	5788	PTPRC	OMIM:619924
HP:0002843	Abnormal T cell morphology	472	ATM	OMIM:208900
HP:0002843	Abnormal T cell morphology	5591	PRKDC	OMIM:615966
HP:0002843	Abnormal T cell morphology	55072	RNF31	OMIM:620632
HP:0002843	Abnormal T cell morphology	917	CD3G	OMIM:615607
HP:0002843	Abnormal T cell morphology	79840	NHEJ1	ORPHA:169079
HP:0002843	Abnormal T cell morphology	57724	EPG5	OMIM:242840
HP:0002843	Abnormal T cell morphology	5994	RFXAP	ORPHA:572
HP:0002843	Abnormal T cell morphology	4261	CIITA	ORPHA:572
HP:0002843	Abnormal T cell morphology	8625	RFXANK	ORPHA:572
HP:0002843	Abnormal T cell morphology	54	ACP5	OMIM:607944
HP:0002843	Abnormal T cell morphology	4615	MYD88	OMIM:612260
HP:0002843	Abnormal T cell morphology	27040	LAT	OMIM:617514
HP:0002843	Abnormal T cell morphology	919	CD247	OMIM:610163
HP:0002843	Abnormal T cell morphology	9020	MAP3K14	OMIM:620449
HP:0002843	Abnormal T cell morphology	64919	BCL11B	OMIM:617237
HP:0002843	Abnormal T cell morphology	915	CD3D	OMIM:615617
HP:0002843	Abnormal T cell morphology	3431	SP110	ORPHA:79124
HP:0002843	Abnormal T cell morphology	6850	SYK	OMIM:619381
HP:0002843	Abnormal T cell morphology	5699	PSMB10	OMIM:620807
HP:0002843	Abnormal T cell morphology	1794	DOCK2	OMIM:616433
HP:0002843	Abnormal T cell morphology	3559	IL2RA	OMIM:606367
HP:0002843	Abnormal T cell morphology	81704	DOCK8	ORPHA:217390
HP:0002843	Abnormal T cell morphology	355	FAS	ORPHA:3261
HP:0002843	Abnormal T cell morphology	356	FASLG	ORPHA:3261
HP:0002843	Abnormal T cell morphology	843	CASP10	ORPHA:3261
HP:0002843	Abnormal T cell morphology	7454	WAS	OMIM:301000
HP:0002843	Abnormal T cell morphology	84061	MAGT1	OMIM:300853
HP:0002843	Abnormal T cell morphology	3702	ITK	OMIM:613011
HP:0002843	Abnormal T cell morphology	29927	SEC61A1	OMIM:617056
HP:0002843	Abnormal T cell morphology	10625	IVNS1ABP	OMIM:618969
HP:0002843	Abnormal T cell morphology	3551	IKBKB	OMIM:618204
HP:0002843	Abnormal T cell morphology	3932	LCK	OMIM:615758
HP:0002843	Abnormal T cell morphology	54440	SASH3	OMIM:301082
HP:0002843	Abnormal T cell morphology	4609	MYC	ORPHA:543
HP:0002843	Abnormal T cell morphology	56160	NSMCE3	OMIM:617241
HP:0002843	Abnormal T cell morphology	5424	POLD1	OMIM:620836
HP:0002843	Abnormal T cell morphology	3953	LEPR	ORPHA:179494
HP:0002843	Abnormal T cell morphology	3952	LEP	ORPHA:66628
HP:0002843	Abnormal T cell morphology	7456	WIPF1	OMIM:614493
HP:0002843	Abnormal T cell morphology	5294	PIK3CG	OMIM:619802
HP:0002843	Abnormal T cell morphology	7535	ZAP70	ORPHA:911
HP:0002843	Abnormal T cell morphology	925	CD8A	OMIM:608957
HP:0002843	Abnormal T cell morphology	115650	TNFRSF13C	OMIM:240500
HP:0002843	Abnormal T cell morphology	115650	TNFRSF13C	OMIM:613494
HP:0002843	Abnormal T cell morphology	29851	ICOS	OMIM:240500
HP:0002843	Abnormal T cell morphology	29851	ICOS	OMIM:607594
HP:0002843	Abnormal T cell morphology	930	CD19	OMIM:240500
HP:0002843	Abnormal T cell morphology	930	CD19	OMIM:613493
HP:0002843	Abnormal T cell morphology	23495	TNFRSF13B	OMIM:240500
HP:0002843	Abnormal T cell morphology	1380	CR2	OMIM:240500
HP:0002843	Abnormal T cell morphology	931	MS4A1	OMIM:613495
HP:0002843	Abnormal T cell morphology	975	CD81	OMIM:613496
HP:0002843	Abnormal T cell morphology	5896	RAG1	ORPHA:331206
HP:0002843	Abnormal T cell morphology	5897	RAG2	ORPHA:331206
HP:0002843	Abnormal T cell morphology	59067	IL21	OMIM:615767
HP:0002843	Abnormal T cell morphology	695	BTK	OMIM:307200
HP:0002843	Abnormal T cell morphology	3561	IL2RG	OMIM:312863
HP:0002843	Abnormal T cell morphology	51135	IRAK4	OMIM:607676
HP:0002843	Abnormal T cell morphology	868	CBLB	OMIM:620430
HP:0002843	Abnormal T cell morphology	4068	SH2D1A	OMIM:308240
HP:0002843	Abnormal T cell morphology	331	XIAP	OMIM:308240
HP:0002843	Abnormal T cell morphology	84433	CARD11	OMIM:615206
HP:0002843	Abnormal T cell morphology	56259	CTNNBL1	OMIM:619846
HP:0002843	Abnormal T cell morphology	90417	KNSTRN	ORPHA:221139
HP:0002843	Abnormal T cell morphology	3115	HLA-DPB1	ORPHA:133
HP:0002843	Abnormal T cell morphology	64170	CARD9	OMIM:212050
HP:0002843	Abnormal T cell morphology	641	BLM	ORPHA:125
HP:0002843	Abnormal T cell morphology	10125	RASGRP1	OMIM:618534
HP:0002843	Abnormal T cell morphology	9948	WDR1	OMIM:150550
HP:0002843	Abnormal T cell morphology	399	RHOH	OMIM:618307
HP:0002843	Abnormal T cell morphology	79991	STN1	OMIM:617341
HP:0002843	Abnormal T cell morphology	3937	LCP2	OMIM:619374
HP:0002843	Abnormal T cell morphology	6117	RPA1	OMIM:619767
HP:0002843	Abnormal T cell morphology	5698	PSMB9	OMIM:620796
HP:0002843	Abnormal T cell morphology	64421	DCLRE1C	OMIM:602450
HP:0002843	Abnormal T cell morphology	3071	NCKAP1L	OMIM:618982
HP:0002843	Abnormal T cell morphology	10159	ATP6AP2	OMIM:301045
HP:0002843	Abnormal T cell morphology	1729	DIAPH1	ORPHA:477814
HP:0002843	Abnormal T cell morphology	50619	DEF6	OMIM:619573
HP:0002843	Abnormal T cell morphology	90268	OTULIN	OMIM:617099
HP:0002843	Abnormal T cell morphology	51371	POMP	OMIM:618048
HP:0002843	Abnormal T cell morphology	2624	GATA2	OMIM:614038
HP:0002843	Abnormal T cell morphology	841	CASP8	OMIM:607271
HP:0002843	Abnormal T cell morphology	8546	AP3B1	OMIM:608233
HP:0002843	Abnormal T cell morphology	3560	IL2RB	OMIM:618495
HP:0002843	Abnormal T cell morphology	916	CD3E	OMIM:615615
HP:0002843	Abnormal T cell morphology	916	CD3E	ORPHA:169160
HP:0002843	Abnormal T cell morphology	8517	IKBKG	ORPHA:98813
HP:0002843	Abnormal T cell morphology	4792	NFKBIA	ORPHA:98813
HP:0002843	Abnormal T cell morphology	4067	LYN	OMIM:620376
HP:0002843	Abnormal T cell morphology	56244	BTNL2	ORPHA:797
HP:0002843	Abnormal T cell morphology	3123	HLA-DRB1	ORPHA:797
HP:0002843	Abnormal T cell morphology	8085	KMT2D	OMIM:147920
HP:0002843	Abnormal T cell morphology	7403	KDM6A	OMIM:147920
HP:0002843	Abnormal T cell morphology	8915	BCL10	OMIM:616098
HP:0002843	Abnormal T cell morphology	6929	TCF3	OMIM:619824
HP:0002843	Abnormal T cell morphology	3978	LIG1	OMIM:619774
HP:0002843	Abnormal T cell morphology	1503	CTPS1	OMIM:615897
HP:0002843	Abnormal T cell morphology	50943	FOXP3	OMIM:304790
HP:0002084	Encephalocele	9851	KIAA0753	ORPHA:475
HP:0002084	Encephalocele	5147	PDE6D	ORPHA:475
HP:0002084	Encephalocele	79600	TCTN1	ORPHA:475
HP:0002084	Encephalocele	79600	TCTN1	ORPHA:564
HP:0002084	Encephalocele	79848	CSPP1	ORPHA:475
HP:0002084	Encephalocele	79848	CSPP1	OMIM:615636
HP:0002084	Encephalocele	79848	CSPP1	ORPHA:564
HP:0002084	Encephalocele	8481	OFD1	ORPHA:475
HP:0002084	Encephalocele	51684	SUFU	ORPHA:475
HP:0002084	Encephalocele	54806	AHI1	ORPHA:475
HP:0002084	Encephalocele	54806	AHI1	ORPHA:220493
HP:0002084	Encephalocele	153241	CEP120	ORPHA:475
HP:0002084	Encephalocele	153241	CEP120	ORPHA:220493
HP:0002084	Encephalocele	153241	CEP120	OMIM:616300
HP:0002084	Encephalocele	65250	CPLANE1	ORPHA:475
HP:0002084	Encephalocele	91147	TMEM67	ORPHA:475
HP:0002084	Encephalocele	91147	TMEM67	OMIM:216360
HP:0002084	Encephalocele	91147	TMEM67	ORPHA:564
HP:0002084	Encephalocele	200894	ARL13B	ORPHA:475
HP:0002084	Encephalocele	9731	CEP104	ORPHA:475
HP:0002084	Encephalocele	219844	HYLS1	ORPHA:475
HP:0002084	Encephalocele	23247	KATNIP	ORPHA:475
HP:0002084	Encephalocele	219854	TMEM218	ORPHA:475
HP:0002084	Encephalocele	54903	MKS1	ORPHA:475
HP:0002084	Encephalocele	54903	MKS1	ORPHA:220493
HP:0002084	Encephalocele	54903	MKS1	ORPHA:564
HP:0002084	Encephalocele	95681	CEP41	ORPHA:475
HP:0002084	Encephalocele	95681	CEP41	ORPHA:220493
HP:0002084	Encephalocele	9786	KIAA0586	ORPHA:475
HP:0002084	Encephalocele	56623	INPP5E	ORPHA:475
HP:0002084	Encephalocele	56623	INPP5E	ORPHA:220493
HP:0002084	Encephalocele	26123	TCTN3	ORPHA:475
HP:0002084	Encephalocele	26123	TCTN3	ORPHA:564
HP:0002084	Encephalocele	79867	TCTN2	ORPHA:475
HP:0002084	Encephalocele	79867	TCTN2	ORPHA:564
HP:0002084	Encephalocele	79867	TCTN2	OMIM:613885
HP:0002084	Encephalocele	80776	B9D2	ORPHA:475
HP:0002084	Encephalocele	80776	B9D2	ORPHA:564
HP:0002084	Encephalocele	10464	PIBF1	ORPHA:475
HP:0002084	Encephalocele	80210	ARMC9	ORPHA:475
HP:0002084	Encephalocele	23116	TOGARAM1	ORPHA:475
HP:0002084	Encephalocele	25776	CBY1	ORPHA:475
HP:0002084	Encephalocele	27077	B9D1	ORPHA:475
HP:0002084	Encephalocele	27077	B9D1	ORPHA:564
HP:0002084	Encephalocele	403	ARL3	ORPHA:475
HP:0002084	Encephalocele	80173	IFT74	ORPHA:475
HP:0002084	Encephalocele	65062	TMEM237	ORPHA:475
HP:0002084	Encephalocele	65062	TMEM237	OMIM:614424
HP:0002084	Encephalocele	65062	TMEM237	ORPHA:220497
HP:0002084	Encephalocele	65062	TMEM237	ORPHA:2318
HP:0002084	Encephalocele	65062	TMEM237	ORPHA:564
HP:0002084	Encephalocele	3769	KCNJ13	ORPHA:65
HP:0002084	Encephalocele	343035	RD3	ORPHA:65
HP:0002084	Encephalocele	145226	RDH12	ORPHA:65
HP:0002084	Encephalocele	1406	CRX	ORPHA:65
HP:0002084	Encephalocele	64802	NMNAT1	ORPHA:65
HP:0002084	Encephalocele	57096	RPGRIP1	ORPHA:65
HP:0002084	Encephalocele	57096	RPGRIP1	ORPHA:564
HP:0002084	Encephalocele	80184	CEP290	ORPHA:65
HP:0002084	Encephalocele	80184	CEP290	OMIM:611134
HP:0002084	Encephalocele	80184	CEP290	ORPHA:2318
HP:0002084	Encephalocele	80184	CEP290	ORPHA:564
HP:0002084	Encephalocele	10383	TUBB4B	ORPHA:65
HP:0002084	Encephalocele	9742	IFT140	ORPHA:65
HP:0002084	Encephalocele	85015	USP45	ORPHA:65
HP:0002084	Encephalocele	6121	RPE65	ORPHA:65
HP:0002084	Encephalocele	23418	CRB1	ORPHA:65
HP:0002084	Encephalocele	5130	PCYT1A	ORPHA:65
HP:0002084	Encephalocele	9657	IQCB1	ORPHA:65
HP:0002084	Encephalocele	392255	GDF6	ORPHA:65
HP:0002084	Encephalocele	23746	AIPL1	ORPHA:65
HP:0002084	Encephalocele	3000	GUCY2D	ORPHA:65
HP:0002084	Encephalocele	9227	LRAT	ORPHA:65
HP:0002084	Encephalocele	55812	SPATA7	ORPHA:65
HP:0002084	Encephalocele	7287	TULP1	ORPHA:65
HP:0002084	Encephalocele	167691	LCA5	ORPHA:65
HP:0002084	Encephalocele	3614	IMPDH1	ORPHA:65
HP:0002084	Encephalocele	341640	FREM2	ORPHA:2052
HP:0002084	Encephalocele	80144	FRAS1	ORPHA:2052
HP:0002084	Encephalocele	80144	FRAS1	OMIM:219000
HP:0002084	Encephalocele	23426	GRIP1	ORPHA:2052
HP:0002084	Encephalocele	60529	ALX4	OMIM:613451
HP:0002084	Encephalocele	60529	ALX4	ORPHA:228390
HP:0002084	Encephalocele	60529	ALX4	OMIM:609597
HP:0002084	Encephalocele	57545	CC2D2A	OMIM:612285
HP:0002084	Encephalocele	57545	CC2D2A	ORPHA:2318
HP:0002084	Encephalocele	57545	CC2D2A	ORPHA:564
HP:0002084	Encephalocele	51524	TMEM138	OMIM:614465
HP:0002084	Encephalocele	51524	TMEM138	ORPHA:2318
HP:0002084	Encephalocele	57514	ARHGAP31	OMIM:100300
HP:0002084	Encephalocele	57514	ARHGAP31	ORPHA:974
HP:0002084	Encephalocele	51259	TMEM216	OMIM:608091
HP:0002084	Encephalocele	51259	TMEM216	OMIM:603194
HP:0002084	Encephalocele	51259	TMEM216	ORPHA:2318
HP:0002084	Encephalocele	51259	TMEM216	ORPHA:564
HP:0002084	Encephalocele	2218	FKTN	OMIM:253800
HP:0002084	Encephalocele	2261	FGFR3	ORPHA:93274
HP:0002084	Encephalocele	84172	POLR1B	ORPHA:861
HP:0002084	Encephalocele	9533	POLR1C	ORPHA:861
HP:0002084	Encephalocele	51082	POLR1D	ORPHA:861
HP:0002084	Encephalocele	6949	TCOF1	ORPHA:861
HP:0002084	Encephalocele	23322	RPGRIP1L	ORPHA:220497
HP:0002084	Encephalocele	23322	RPGRIP1L	OMIM:611560
HP:0002084	Encephalocele	23322	RPGRIP1L	ORPHA:564
HP:0002084	Encephalocele	4867	NPHP1	ORPHA:220497
HP:0002084	Encephalocele	4488	MSX2	OMIM:168500
HP:0002084	Encephalocele	3516	RBPJ	ORPHA:974
HP:0002084	Encephalocele	4851	NOTCH1	ORPHA:974
HP:0002084	Encephalocele	57572	DOCK6	ORPHA:974
HP:0002084	Encephalocele	285203	EOGT	ORPHA:974
HP:0002084	Encephalocele	54567	DLL4	ORPHA:974
HP:0002084	Encephalocele	57688	ZSWIM6	OMIM:603671
HP:0002084	Encephalocele	57688	ZSWIM6	ORPHA:1827
HP:0002084	Encephalocele	29954	POMT2	OMIM:613150
HP:0002084	Encephalocele	729920	CRPPA	OMIM:614643
HP:0002084	Encephalocele	79583	TMEM231	ORPHA:2318
HP:0002084	Encephalocele	79583	TMEM231	ORPHA:564
HP:0002084	Encephalocele	23090	ZNF423	ORPHA:2318
HP:0002084	Encephalocele	2317	FLNB	OMIM:108720
HP:0002084	Encephalocele	3339	HSPG2	ORPHA:1865
HP:0002084	Encephalocele	2260	FGFR1	ORPHA:2117
HP:0002084	Encephalocele	84314	TMEM107	ORPHA:564
HP:0002084	Encephalocele	79770	TXNDC15	ORPHA:564
HP:0002084	Encephalocele	257	ALX3	ORPHA:391474
HP:0002084	Encephalocele	5062	PAK2	OMIM:618458
HP:0002084	Encephalocele	2316	FLNA	ORPHA:90652
HP:0002084	Encephalocele	3912	LAMB1	OMIM:615191
HP:0002084	Encephalocele	3912	LAMB1	ORPHA:352682
HP:0002084	Encephalocele	160418	TMTC3	OMIM:617255
HP:0002084	Encephalocele	6608	SMO	OMIM:241800
HP:0002084	Encephalocele	10992	SF3B2	OMIM:164210
HP:0002084	Encephalocele	3239	HOXD13	ORPHA:887
HP:0002084	Encephalocele	80781	COL18A1	OMIM:267750
HP:0002084	Encephalocele	80781	COL18A1	ORPHA:1571
HP:0002084	Encephalocele	29925	GMPPB	ORPHA:370959
HP:0002084	Encephalocele	79147	FKRP	ORPHA:370959
HP:0002084	Encephalocele	79147	FKRP	OMIM:236670
HP:0002084	Encephalocele	84197	POMK	ORPHA:370959
HP:0002084	Encephalocele	55624	POMGNT1	ORPHA:370959
HP:0002084	Encephalocele	10585	POMT1	ORPHA:370959
HP:0002084	Encephalocele	10585	POMT1	OMIM:236670
HP:0002084	Encephalocele	11041	B4GAT1	OMIM:615287
HP:0002084	Encephalocele	56603	CYP26B1	OMIM:614416
HP:0002084	Encephalocele	26005	C2CD3	OMIM:615948
HP:0002084	Encephalocele	9215	LARGE1	OMIM:236670
HP:0002084	Encephalocele	8092	ALX1	ORPHA:306542
HP:0002084	Encephalocele	157570	ESCO2	OMIM:268300
HP:0002084	Encephalocele	28514	DLL1	ORPHA:280195
HP:0002084	Encephalocele	2253	FGF8	ORPHA:280195
HP:0002084	Encephalocele	6496	SIX3	ORPHA:280195
HP:0002084	Encephalocele	7050	TGIF1	ORPHA:280195
HP:0002084	Encephalocele	4838	NODAL	ORPHA:280195
HP:0002084	Encephalocele	6469	SHH	ORPHA:280195
HP:0002084	Encephalocele	7546	ZIC2	ORPHA:280195
HP:0002084	Encephalocele	6491	STIL	ORPHA:280195
HP:0002084	Encephalocele	2619	GAS1	ORPHA:280195
HP:0002084	Encephalocele	84976	DISP1	ORPHA:280195
HP:0002084	Encephalocele	2736	GLI2	ORPHA:280195
HP:0002084	Encephalocele	8928	FOXH1	ORPHA:280195
HP:0002084	Encephalocele	6997	CRIPTO	ORPHA:280195
HP:0002084	Encephalocele	5727	PTCH1	ORPHA:280195
HP:0002084	Encephalocele	50937	CDON	ORPHA:280195
HP:0002084	Encephalocele	27145	FILIP1	OMIM:620775
HP:0002084	Encephalocele	30813	VSX1	OMIM:614195
HP:0002737	Thick skull base	2316	FLNA	OMIM:311300
HP:0002737	Thick skull base	6522	SLC4A2	OMIM:620366
HP:0002737	Thick skull base	5745	PTH1R	OMIM:156400
HP:0002738	Hypoplastic frontal sinuses	4591	TRIM37	OMIM:253250
HP:0002738	Hypoplastic frontal sinuses	257	ALX3	OMIM:136760
HP:0002738	Hypoplastic frontal sinuses	257	ALX3	ORPHA:391474
HP:0002738	Hypoplastic frontal sinuses	175	AGA	OMIM:208400
HP:0002738	Hypoplastic frontal sinuses	1301	COL11A1	ORPHA:560
HP:0002738	Hypoplastic frontal sinuses	860	RUNX2	OMIM:119600
HP:0002738	Hypoplastic frontal sinuses	6424	SFRP4	OMIM:265900
HP:0002738	Hypoplastic frontal sinuses	2316	FLNA	ORPHA:90650
HP:0002738	Hypoplastic frontal sinuses	2316	FLNA	ORPHA:90652
HP:0005990	Thyroid hypoplasia	8471	IRS4	OMIM:301035
HP:0005990	Thyroid hypoplasia	2737	GLI3	ORPHA:672
HP:0005990	Thyroid hypoplasia	84172	POLR1B	ORPHA:861
HP:0005990	Thyroid hypoplasia	9533	POLR1C	ORPHA:861
HP:0005990	Thyroid hypoplasia	51082	POLR1D	ORPHA:861
HP:0005990	Thyroid hypoplasia	6949	TCOF1	ORPHA:861
HP:0005990	Thyroid hypoplasia	7849	PAX8	OMIM:218700
HP:0005990	Thyroid hypoplasia	7849	PAX8	ORPHA:95720
HP:0005990	Thyroid hypoplasia	5626	PROP1	ORPHA:226307
HP:0005990	Thyroid hypoplasia	89884	LHX4	ORPHA:226307
HP:0005990	Thyroid hypoplasia	8022	LHX3	ORPHA:226307
HP:0005990	Thyroid hypoplasia	5449	POU1F1	ORPHA:226307
HP:0005990	Thyroid hypoplasia	8820	HESX1	ORPHA:226307
HP:0005990	Thyroid hypoplasia	50814	NSDHL	OMIM:308050
HP:0005990	Thyroid hypoplasia	92949	ADAMTSL1	ORPHA:521445
HP:0005990	Thyroid hypoplasia	50506	DUOX2	ORPHA:226316
HP:0005990	Thyroid hypoplasia	1482	NKX2-5	OMIM:225250
HP:0005990	Thyroid hypoplasia	2783	GNB2	OMIM:619503
HP:0005990	Thyroid hypoplasia	7253	TSHR	OMIM:275200
HP:0005990	Thyroid hypoplasia	7253	TSHR	ORPHA:90673
HP:0005990	Thyroid hypoplasia	7253	TSHR	ORPHA:95720
HP:0005990	Thyroid hypoplasia	23522	KAT6B	ORPHA:3047
HP:0005990	Thyroid hypoplasia	8085	KMT2D	OMIM:620186
HP:0005990	Thyroid hypoplasia	7201	TRHR	ORPHA:99832
HP:0005990	Thyroid hypoplasia	5172	SLC26A4	ORPHA:95720
HP:0005990	Thyroid hypoplasia	7252	TSHB	ORPHA:90674
HP:0005991	Limited neck flexion	57190	SELENON	OMIM:602771
HP:0005991	Limited neck flexion	57190	SELENON	ORPHA:324604
HP:0005991	Limited neck flexion	4625	MYH7	ORPHA:324604
HP:0005991	Limited neck flexion	7273	TTN	ORPHA:324604
HP:0005991	Limited neck flexion	2273	FHL1	OMIM:300696
HP:0000470	Short neck	1718	DHCR24	OMIM:602398
HP:0000470	Short neck	8036	SHOC2	OMIM:607721
HP:0000470	Short neck	11253	MAN1B1	ORPHA:397941
HP:0000470	Short neck	11253	MAN1B1	OMIM:614202
HP:0000470	Short neck	8367	H4C5	OMIM:619950
HP:0000470	Short neck	8216	LZTR1	OMIM:616564
HP:0000470	Short neck	8216	LZTR1	OMIM:605275
HP:0000470	Short neck	6016	RIT1	OMIM:615355
HP:0000470	Short neck	2972	BRF1	OMIM:616202
HP:0000470	Short neck	2972	BRF1	ORPHA:444072
HP:0000470	Short neck	9820	CUL7	ORPHA:2616
HP:0000470	Short neck	9820	CUL7	OMIM:273750
HP:0000470	Short neck	23363	OBSL1	ORPHA:2616
HP:0000470	Short neck	23363	OBSL1	OMIM:612921
HP:0000470	Short neck	83987	CCDC8	ORPHA:2616
HP:0000470	Short neck	83987	CCDC8	OMIM:614205
HP:0000470	Short neck	55627	SMPD4	OMIM:618622
HP:0000470	Short neck	10973	ASCC3	OMIM:620700
HP:0000470	Short neck	5361	PLXNA1	OMIM:619955
HP:0000470	Short neck	1836	SLC26A2	ORPHA:56304
HP:0000470	Short neck	1836	SLC26A2	OMIM:256050
HP:0000470	Short neck	1836	SLC26A2	ORPHA:93298
HP:0000470	Short neck	4125	MAN2B1	ORPHA:309282
HP:0000470	Short neck	6662	SOX9	ORPHA:140
HP:0000470	Short neck	51741	WWOX	OMIM:616211
HP:0000470	Short neck	1855	DVL1	OMIM:616331
HP:0000470	Short neck	1855	DVL1	OMIM:180700
HP:0000470	Short neck	1855	DVL1	ORPHA:3107
HP:0000470	Short neck	341640	FREM2	OMIM:617666
HP:0000470	Short neck	65082	VPS33A	OMIM:617303
HP:0000470	Short neck	65082	VPS33A	ORPHA:505248
HP:0000470	Short neck	526	ATP6V1B2	OMIM:616455
HP:0000470	Short neck	526	ATP6V1B2	ORPHA:3473
HP:0000470	Short neck	2201	FBN2	OMIM:121050
HP:0000470	Short neck	3764	KCNJ8	ORPHA:1517
HP:0000470	Short neck	10060	ABCC9	ORPHA:1517
HP:0000470	Short neck	10060	ABCC9	OMIM:239850
HP:0000470	Short neck	84572	GNPTG	OMIM:252605
HP:0000470	Short neck	6023	RMRP	ORPHA:175
HP:0000470	Short neck	6023	RMRP	OMIM:607095
HP:0000470	Short neck	83696	TRAPPC9	OMIM:613192
HP:0000470	Short neck	1020	CDK5	OMIM:616342
HP:0000470	Short neck	9469	CHST3	OMIM:143095
HP:0000470	Short neck	9469	CHST3	OMIM:245600
HP:0000470	Short neck	10606	PAICS	OMIM:619859
HP:0000470	Short neck	1292	COL6A2	OMIM:620727
HP:0000470	Short neck	1292	COL6A2	ORPHA:75840
HP:0000470	Short neck	4853	NOTCH2	OMIM:102500
HP:0000470	Short neck	4853	NOTCH2	ORPHA:955
HP:0000470	Short neck	55681	SCYL2	OMIM:618766
HP:0000470	Short neck	64359	NXN	ORPHA:1507
HP:0000470	Short neck	4920	ROR2	ORPHA:1507
HP:0000470	Short neck	4920	ROR2	OMIM:268310
HP:0000470	Short neck	3339	HSPG2	ORPHA:1865
HP:0000470	Short neck	3339	HSPG2	OMIM:255800
HP:0000470	Short neck	3339	HSPG2	ORPHA:800
HP:0000470	Short neck	2626	GATA4	ORPHA:251071
HP:0000470	Short neck	59341	TRPV4	OMIM:113500
HP:0000470	Short neck	59341	TRPV4	OMIM:168400
HP:0000470	Short neck	59341	TRPV4	OMIM:184095
HP:0000470	Short neck	59341	TRPV4	OMIM:184252
HP:0000470	Short neck	7020	TFAP2A	OMIM:113620
HP:0000470	Short neck	1501	CTNND2	ORPHA:281
HP:0000470	Short neck	9037	SEMA5A	ORPHA:281
HP:0000470	Short neck	1301	COL11A1	OMIM:228520
HP:0000470	Short neck	1301	COL11A1	ORPHA:2021
HP:0000470	Short neck	93627	TBCK	ORPHA:488632
HP:0000470	Short neck	93627	TBCK	OMIM:616900
HP:0000470	Short neck	200734	SPRED2	OMIM:619745
HP:0000470	Short neck	64132	XYLT2	ORPHA:85194
HP:0000470	Short neck	4929	NR4A2	ORPHA:1617
HP:0000470	Short neck	10716	TBR1	ORPHA:1617
HP:0000470	Short neck	26040	SETBP1	OMIM:269150
HP:0000470	Short neck	26040	SETBP1	ORPHA:798
HP:0000470	Short neck	26834	RNU4-2	OMIM:620851
HP:0000470	Short neck	4247	MGAT2	OMIM:212066
HP:0000470	Short neck	3476	IGBP1	ORPHA:52055
HP:0000470	Short neck	3476	IGBP1	OMIM:300472
HP:0000470	Short neck	57167	SALL4	ORPHA:233
HP:0000470	Short neck	9935	MAFB	ORPHA:233
HP:0000470	Short neck	1123	CHN1	ORPHA:233
HP:0000470	Short neck	1947	EFNB1	OMIM:304110
HP:0000470	Short neck	92482	BBIP1	ORPHA:110
HP:0000470	Short neck	80184	CEP290	ORPHA:110
HP:0000470	Short neck	11020	IFT27	ORPHA:110
HP:0000470	Short neck	582	BBS1	ORPHA:110
HP:0000470	Short neck	49855	SCAPER	ORPHA:110
HP:0000470	Short neck	4867	NPHP1	ORPHA:110
HP:0000470	Short neck	51057	WDPCP	ORPHA:110
HP:0000470	Short neck	132320	SCLT1	ORPHA:110
HP:0000470	Short neck	27241	BBS9	ORPHA:110
HP:0000470	Short neck	84984	CEP19	ORPHA:110
HP:0000470	Short neck	22954	TRIM32	ORPHA:110
HP:0000470	Short neck	54903	MKS1	ORPHA:110
HP:0000470	Short neck	54903	MKS1	OMIM:249000
HP:0000470	Short neck	79738	BBS10	ORPHA:110
HP:0000470	Short neck	123016	TTC8	ORPHA:110
HP:0000470	Short neck	26160	IFT172	ORPHA:110
HP:0000470	Short neck	583	BBS2	ORPHA:110
HP:0000470	Short neck	583	BBS2	OMIM:615981
HP:0000470	Short neck	585	BBS4	ORPHA:110
HP:0000470	Short neck	8195	MKKS	ORPHA:110
HP:0000470	Short neck	54585	LZTFL1	ORPHA:110
HP:0000470	Short neck	55212	BBS7	ORPHA:110
HP:0000470	Short neck	166379	BBS12	ORPHA:110
HP:0000470	Short neck	10806	SDCCAG8	ORPHA:110
HP:0000470	Short neck	157657	CFAP418	ORPHA:110
HP:0000470	Short neck	84100	ARL6	ORPHA:110
HP:0000470	Short neck	129880	BBS5	ORPHA:110
HP:0000470	Short neck	80173	IFT74	ORPHA:110
HP:0000470	Short neck	9895	TECPR2	OMIM:615031
HP:0000470	Short neck	9895	TECPR2	ORPHA:320385
HP:0000470	Short neck	63895	PIEZO2	OMIM:114300
HP:0000470	Short neck	63895	PIEZO2	OMIM:248700
HP:0000470	Short neck	23126	POGZ	OMIM:616364
HP:0000470	Short neck	23126	POGZ	ORPHA:468678
HP:0000470	Short neck	51633	OTUD6B	OMIM:617452
HP:0000470	Short neck	51633	OTUD6B	ORPHA:505237
HP:0000470	Short neck	3572	IL6ST	OMIM:619750
HP:0000470	Short neck	5048	PAFAH1B1	ORPHA:217385
HP:0000470	Short neck	7531	YWHAE	ORPHA:217385
HP:0000470	Short neck	5604	MAP2K1	OMIM:615279
HP:0000470	Short neck	5604	MAP2K1	ORPHA:1340
HP:0000470	Short neck	5604	MAP2K1	OMIM:163950
HP:0000470	Short neck	92609	TIMM50	OMIM:617698
HP:0000470	Short neck	79770	TXNDC15	OMIM:619879
HP:0000470	Short neck	2990	GUSB	ORPHA:584
HP:0000470	Short neck	2990	GUSB	OMIM:253220
HP:0000470	Short neck	2736	GLI2	OMIM:610829
HP:0000470	Short neck	79796	ALG9	ORPHA:79328
HP:0000470	Short neck	79796	ALG9	OMIM:608776
HP:0000470	Short neck	79796	ALG9	OMIM:263210
HP:0000470	Short neck	79718	TBL1XR1	OMIM:602342
HP:0000470	Short neck	79718	TBL1XR1	ORPHA:487825
HP:0000470	Short neck	8314	BAP1	OMIM:619762
HP:0000470	Short neck	50485	SMARCAL1	ORPHA:1830
HP:0000470	Short neck	50485	SMARCAL1	OMIM:242900
HP:0000470	Short neck	9968	MED12	OMIM:305450
HP:0000470	Short neck	79728	PALB2	OMIM:610832
HP:0000470	Short neck	6925	TCF4	OMIM:610954
HP:0000470	Short neck	6925	TCF4	ORPHA:2896
HP:0000470	Short neck	2316	FLNA	OMIM:304120
HP:0000470	Short neck	91949	COG7	ORPHA:79333
HP:0000470	Short neck	91949	COG7	OMIM:608779
HP:0000470	Short neck	6473	SHOX	ORPHA:314795
HP:0000470	Short neck	124583	CANT1	OMIM:251450
HP:0000470	Short neck	124583	CANT1	ORPHA:1425
HP:0000470	Short neck	56975	FAM20C	ORPHA:1832
HP:0000470	Short neck	56975	FAM20C	OMIM:259775
HP:0000470	Short neck	2556	GABRA3	OMIM:301091
HP:0000470	Short neck	4621	MYH3	OMIM:178110
HP:0000470	Short neck	4621	MYH3	OMIM:618469
HP:0000470	Short neck	4621	MYH3	OMIM:193700
HP:0000470	Short neck	4621	MYH3	ORPHA:1147
HP:0000470	Short neck	2239	GPC4	ORPHA:373
HP:0000470	Short neck	2719	GPC3	ORPHA:373
HP:0000470	Short neck	55120	FANCL	OMIM:614083
HP:0000470	Short neck	3423	IDS	OMIM:309900
HP:0000470	Short neck	259232	NALCN	OMIM:616266
HP:0000470	Short neck	259232	NALCN	ORPHA:562528
HP:0000470	Short neck	259232	NALCN	ORPHA:1147
HP:0000470	Short neck	259232	NALCN	ORPHA:371364
HP:0000470	Short neck	23483	TGDS	OMIM:616145
HP:0000470	Short neck	2260	FGFR1	OMIM:166250
HP:0000470	Short neck	25836	NIPBL	OMIM:122470
HP:0000470	Short neck	25836	NIPBL	ORPHA:199
HP:0000470	Short neck	2720	GLB1	OMIM:230500
HP:0000470	Short neck	7476	WNT7A	OMIM:276820
HP:0000470	Short neck	7476	WNT7A	ORPHA:2879
HP:0000470	Short neck	2317	FLNB	OMIM:272460
HP:0000470	Short neck	2317	FLNB	OMIM:108721
HP:0000470	Short neck	2317	FLNB	OMIM:108720
HP:0000470	Short neck	2778	GNAS	ORPHA:79443
HP:0000470	Short neck	2778	GNAS	ORPHA:79444
HP:0000470	Short neck	2778	GNAS	ORPHA:94089
HP:0000470	Short neck	2778	GNAS	OMIM:612463
HP:0000470	Short neck	2778	GNAS	OMIM:612462
HP:0000470	Short neck	2778	GNAS	OMIM:103580
HP:0000470	Short neck	1280	COL2A1	ORPHA:485
HP:0000470	Short neck	1280	COL2A1	ORPHA:94068
HP:0000470	Short neck	1280	COL2A1	OMIM:156550
HP:0000470	Short neck	1280	COL2A1	OMIM:183900
HP:0000470	Short neck	1280	COL2A1	OMIM:271700
HP:0000470	Short neck	1280	COL2A1	OMIM:151210
HP:0000470	Short neck	1280	COL2A1	ORPHA:93315
HP:0000470	Short neck	6138	RPL15	ORPHA:124
HP:0000470	Short neck	6224	RPS20	ORPHA:124
HP:0000470	Short neck	6165	RPL35A	ORPHA:124
HP:0000470	Short neck	6132	RPL8	ORPHA:124
HP:0000470	Short neck	6223	RPS19	ORPHA:124
HP:0000470	Short neck	6223	RPS19	OMIM:105650
HP:0000470	Short neck	6232	RPS27	ORPHA:124
HP:0000470	Short neck	55027	HEATR3	ORPHA:124
HP:0000470	Short neck	6160	RPL31	ORPHA:124
HP:0000470	Short neck	6201	RPS7	ORPHA:124
HP:0000470	Short neck	6155	RPL27	ORPHA:124
HP:0000470	Short neck	6234	RPS28	ORPHA:124
HP:0000470	Short neck	6135	RPL11	ORPHA:124
HP:0000470	Short neck	6229	RPS24	ORPHA:124
HP:0000470	Short neck	6125	RPL5	ORPHA:124
HP:0000470	Short neck	6204	RPS10	ORPHA:124
HP:0000470	Short neck	2623	GATA1	ORPHA:124
HP:0000470	Short neck	6133	RPL9	ORPHA:124
HP:0000470	Short neck	6231	RPS26	ORPHA:124
HP:0000470	Short neck	11224	RPL35	ORPHA:124
HP:0000470	Short neck	6218	RPS17	ORPHA:124
HP:0000470	Short neck	6154	RPL26	ORPHA:124
HP:0000470	Short neck	6210	RPS15A	ORPHA:124
HP:0000470	Short neck	90121	TSR2	ORPHA:124
HP:0000470	Short neck	6141	RPL18	ORPHA:124
HP:0000470	Short neck	6235	RPS29	ORPHA:124
HP:0000470	Short neck	51816	ADA2	ORPHA:124
HP:0000470	Short neck	3845	KRAS	OMIM:600268
HP:0000470	Short neck	3845	KRAS	ORPHA:1340
HP:0000470	Short neck	3845	KRAS	OMIM:609942
HP:0000470	Short neck	6261	RYR1	OMIM:619542
HP:0000470	Short neck	9742	IFT140	OMIM:266920
HP:0000470	Short neck	54101	RIPK4	OMIM:263650
HP:0000470	Short neck	26173	INTS1	OMIM:618571
HP:0000470	Short neck	9427	ECEL1	OMIM:615065
HP:0000470	Short neck	93587	TRMT10A	OMIM:616033
HP:0000470	Short neck	93587	TRMT10A	ORPHA:391408
HP:0000470	Short neck	29968	PSAT1	OMIM:616038
HP:0000470	Short neck	29968	PSAT1	ORPHA:284417
HP:0000470	Short neck	5426	POLE	OMIM:618336
HP:0000470	Short neck	27145	FILIP1	OMIM:620775
HP:0000470	Short neck	6654	SOS1	OMIM:610733
HP:0000470	Short neck	54808	DYM	ORPHA:239
HP:0000470	Short neck	54808	DYM	OMIM:607326
HP:0000470	Short neck	54808	DYM	OMIM:223800
HP:0000470	Short neck	2879	GPX4	OMIM:250220
HP:0000470	Short neck	9949	AMMECR1	OMIM:300990
HP:0000470	Short neck	4921	DDR2	OMIM:271665
HP:0000470	Short neck	22827	PUF60	ORPHA:508498
HP:0000470	Short neck	22827	PUF60	ORPHA:508488
HP:0000470	Short neck	22827	PUF60	OMIM:615583
HP:0000470	Short neck	65992	DDRGK1	OMIM:602557
HP:0000470	Short neck	65992	DDRGK1	ORPHA:93352
HP:0000470	Short neck	10466	COG5	ORPHA:263487
HP:0000470	Short neck	6909	TBX2	OMIM:618223
HP:0000470	Short neck	2187	FANCB	OMIM:300514
HP:0000470	Short neck	23314	SATB2	ORPHA:251028
HP:0000470	Short neck	8675	STX16	ORPHA:94089
HP:0000470	Short neck	55869	HDAC8	OMIM:300882
HP:0000470	Short neck	55869	HDAC8	ORPHA:199
HP:0000470	Short neck	91754	NEK9	OMIM:617022
HP:0000470	Short neck	55215	FANCI	OMIM:609053
HP:0000470	Short neck	23524	SRRM2	OMIM:620439
HP:0000470	Short neck	5010	CLDN11	OMIM:619328
HP:0000470	Short neck	176	ACAN	OMIM:612813
HP:0000470	Short neck	176	ACAN	ORPHA:171866
HP:0000470	Short neck	9126	SMC3	OMIM:610759
HP:0000470	Short neck	9126	SMC3	ORPHA:199
HP:0000470	Short neck	79068	FTO	OMIM:612938
HP:0000470	Short neck	3417	IDH1	ORPHA:99646
HP:0000470	Short neck	4763	NF1	OMIM:601321
HP:0000470	Short neck	3039	HBA1	ORPHA:98791
HP:0000470	Short neck	3040	HBA2	ORPHA:98791
HP:0000470	Short neck	10940	POP1	OMIM:617396
HP:0000470	Short neck	54496	PRMT7	OMIM:617157
HP:0000470	Short neck	54496	PRMT7	ORPHA:464288
HP:0000470	Short neck	165	AEBP1	OMIM:618000
HP:0000470	Short neck	8260	NAA10	OMIM:300855
HP:0000470	Short neck	10082	GPC6	OMIM:258315
HP:0000470	Short neck	11145	PLAAT3	OMIM:620683
HP:0000470	Short neck	23389	MED13L	ORPHA:369891
HP:0000470	Short neck	23389	MED13L	OMIM:616789
HP:0000470	Short neck	1312	COMT	ORPHA:567
HP:0000470	Short neck	221037	JMJD1C	ORPHA:567
HP:0000470	Short neck	2812	GP1BB	ORPHA:567
HP:0000470	Short neck	6239	RREB1	ORPHA:567
HP:0000470	Short neck	6899	TBX1	ORPHA:567
HP:0000470	Short neck	7290	HIRA	ORPHA:567
HP:0000470	Short neck	9632	SEC24C	ORPHA:567
HP:0000470	Short neck	7353	UFD1	ORPHA:567
HP:0000470	Short neck	421	ARVCF	ORPHA:567
HP:0000470	Short neck	3265	HRAS	ORPHA:3071
HP:0000470	Short neck	3265	HRAS	OMIM:218040
HP:0000470	Short neck	7319	UBE2A	OMIM:300860
HP:0000470	Short neck	3977	LIFR	OMIM:601559
HP:0000470	Short neck	5277	PIGA	OMIM:300868
HP:0000470	Short neck	9244	CRLF1	OMIM:272430
HP:0000470	Short neck	64864	RFX7	OMIM:620330
HP:0000470	Short neck	285489	DOK7	OMIM:618389
HP:0000470	Short neck	29895	MYL11	OMIM:619110
HP:0000470	Short neck	145173	B3GLCT	OMIM:261540
HP:0000470	Short neck	145173	B3GLCT	ORPHA:709
HP:0000470	Short neck	26005	C2CD3	ORPHA:434179
HP:0000470	Short neck	6513	SLC2A1	ORPHA:168577
HP:0000470	Short neck	80036	TRPM3	OMIM:620224
HP:0000470	Short neck	4927	NUP88	OMIM:618393
HP:0000470	Short neck	3636	INPPL1	OMIM:258480
HP:0000470	Short neck	3636	INPPL1	ORPHA:3144
HP:0000470	Short neck	203068	TUBB	OMIM:156610
HP:0000470	Short neck	6872	TAF1	OMIM:300966
HP:0000470	Short neck	8567	MADD	OMIM:619004
HP:0000470	Short neck	51715	RAB23	OMIM:201000
HP:0000470	Short neck	23233	EXOC6B	OMIM:618395
HP:0000470	Short neck	2273	FHL1	OMIM:300718
HP:0000470	Short neck	2273	FHL1	OMIM:300696
HP:0000470	Short neck	2273	FHL1	ORPHA:98863
HP:0000470	Short neck	226	ALDOA	OMIM:611881
HP:0000470	Short neck	8450	CUL4B	ORPHA:85293
HP:0000470	Short neck	23169	SLC35D1	OMIM:269250
HP:0000470	Short neck	23169	SLC35D1	ORPHA:3144
HP:0000470	Short neck	84919	PPP1R15B	ORPHA:391408
HP:0000470	Short neck	4222	MEOX1	OMIM:214300
HP:0000470	Short neck	4222	MEOX1	ORPHA:2345
HP:0000470	Short neck	2799	GNS	OMIM:252940
HP:0000470	Short neck	673	BRAF	OMIM:613707
HP:0000470	Short neck	673	BRAF	OMIM:613706
HP:0000470	Short neck	673	BRAF	OMIM:115150
HP:0000470	Short neck	673	BRAF	ORPHA:1340
HP:0000470	Short neck	673	BRAF	OMIM:163950
HP:0000470	Short neck	126792	B3GALT6	OMIM:271640
HP:0000470	Short neck	4081	MAB21L1	ORPHA:495875
HP:0000470	Short neck	84231	TRAF7	OMIM:618164
HP:0000470	Short neck	89970	RSPRY1	ORPHA:457395
HP:0000470	Short neck	89970	RSPRY1	OMIM:616723
HP:0000470	Short neck	2733	GLE1	OMIM:611890
HP:0000470	Short neck	2733	GLE1	ORPHA:1486
HP:0000470	Short neck	51594	NBAS	OMIM:614800
HP:0000470	Short neck	168667	BMPER	ORPHA:66637
HP:0000470	Short neck	168667	BMPER	OMIM:608022
HP:0000470	Short neck	54187	NANS	OMIM:610442
HP:0000470	Short neck	6329	SCN4A	OMIM:620369
HP:0000470	Short neck	4683	NBN	ORPHA:647
HP:0000470	Short neck	7474	WNT5A	OMIM:180700
HP:0000470	Short neck	7474	WNT5A	ORPHA:3107
HP:0000470	Short neck	5727	PTCH1	ORPHA:77301
HP:0000470	Short neck	9897	WASHC5	ORPHA:7
HP:0000470	Short neck	28952	CCDC22	ORPHA:7
HP:0000470	Short neck	57020	VPS35L	ORPHA:7
HP:0000470	Short neck	56896	DPYSL5	ORPHA:7
HP:0000470	Short neck	6913	TBX15	OMIM:260660
HP:0000470	Short neck	6913	TBX15	ORPHA:93333
HP:0000470	Short neck	84842	HPDL	OMIM:619026
HP:0000470	Short neck	8022	LHX3	ORPHA:231720
HP:0000470	Short neck	8022	LHX3	ORPHA:226307
HP:0000470	Short neck	8022	LHX3	OMIM:221750
HP:0000470	Short neck	51109	RDH11	ORPHA:436245
HP:0000470	Short neck	283450	HECTD4	OMIM:620250
HP:0000470	Short neck	8243	SMC1A	OMIM:300590
HP:0000470	Short neck	8243	SMC1A	ORPHA:199
HP:0000470	Short neck	6399	TRAPPC2	ORPHA:93284
HP:0000470	Short neck	6399	TRAPPC2	OMIM:313400
HP:0000470	Short neck	9131	AIFM1	OMIM:300232
HP:0000470	Short neck	324	APC	ORPHA:261584
HP:0000470	Short neck	5393	EXOSC9	OMIM:618065
HP:0000470	Short neck	26128	KIFBP	OMIM:609460
HP:0000470	Short neck	23556	PIGN	ORPHA:2059
HP:0000470	Short neck	23556	PIGN	ORPHA:280633
HP:0000470	Short neck	161742	SPRED1	OMIM:611431
HP:0000470	Short neck	5894	RAF1	OMIM:611554
HP:0000470	Short neck	5894	RAF1	OMIM:611553
HP:0000470	Short neck	57539	WDR35	OMIM:613610
HP:0000470	Short neck	118429	ANTXR2	ORPHA:2176
HP:0000470	Short neck	1303	COL12A1	ORPHA:75840
HP:0000470	Short neck	1291	COL6A1	ORPHA:75840
HP:0000470	Short neck	1293	COL6A3	ORPHA:75840
HP:0000470	Short neck	58	ACTA1	ORPHA:171436
HP:0000470	Short neck	7169	TPM2	ORPHA:171436
HP:0000470	Short neck	7169	TPM2	ORPHA:1147
HP:0000470	Short neck	4703	NEB	ORPHA:171436
HP:0000470	Short neck	10324	KLHL41	ORPHA:171436
HP:0000470	Short neck	56203	LMOD3	ORPHA:171436
HP:0000470	Short neck	1073	CFL2	ORPHA:171436
HP:0000470	Short neck	4010	LMX1B	ORPHA:495818
HP:0000470	Short neck	6812	STXBP1	ORPHA:495818
HP:0000470	Short neck	80055	PGAP1	OMIM:615802
HP:0000470	Short neck	10847	SRCAP	ORPHA:2044
HP:0000470	Short neck	10847	SRCAP	OMIM:136140
HP:0000470	Short neck	1717	DHCR7	ORPHA:818
HP:0000470	Short neck	55780	ERMARD	ORPHA:75857
HP:0000470	Short neck	10978	CLP1	OMIM:615803
HP:0000470	Short neck	26153	KIF26A	OMIM:620156
HP:0000470	Short neck	9382	COG1	OMIM:611209
HP:0000470	Short neck	9382	COG1	ORPHA:263508
HP:0000470	Short neck	1146	CHRNG	OMIM:265000
HP:0000470	Short neck	84992	PIGY	ORPHA:247262
HP:0000470	Short neck	84992	PIGY	OMIM:616809
HP:0000470	Short neck	84720	PIGO	ORPHA:247262
HP:0000470	Short neck	93210	PGAP3	ORPHA:247262
HP:0000470	Short neck	284098	PIGW	ORPHA:247262
HP:0000470	Short neck	27315	PGAP2	ORPHA:247262
HP:0000470	Short neck	55650	PIGV	ORPHA:247262
HP:0000470	Short neck	9487	PIGL	ORPHA:247262
HP:0000470	Short neck	3899	AFF3	OMIM:619297
HP:0000470	Short neck	1009	CDH11	ORPHA:1299
HP:0000470	Short neck	1954	MEGF8	OMIM:614976
HP:0000470	Short neck	79867	TCTN2	OMIM:613885
HP:0000470	Short neck	1302	COL11A2	ORPHA:2021
HP:0000470	Short neck	1302	COL11A2	ORPHA:1427
HP:0000470	Short neck	79053	ALG8	OMIM:608104
HP:0000470	Short neck	3756	KCNH1	ORPHA:3473
HP:0000470	Short neck	3782	KCNN3	ORPHA:3473
HP:0000470	Short neck	3425	IDUA	OMIM:607014
HP:0000470	Short neck	3425	IDUA	OMIM:607016
HP:0000470	Short neck	3425	IDUA	ORPHA:93473
HP:0000470	Short neck	6911	TBX6	OMIM:122600
HP:0000470	Short neck	6911	TBX6	ORPHA:1797
HP:0000470	Short neck	374654	KIF7	OMIM:607131
HP:0000470	Short neck	26227	PHGDH	OMIM:256520
HP:0000470	Short neck	9653	HS2ST1	OMIM:619194
HP:0000470	Short neck	392255	GDF6	OMIM:118100
HP:0000470	Short neck	392255	GDF6	ORPHA:2345
HP:0000470	Short neck	4593	MUSK	OMIM:208150
HP:0000470	Short neck	5626	PROP1	ORPHA:226307
HP:0000470	Short neck	89884	LHX4	ORPHA:226307
HP:0000470	Short neck	5449	POU1F1	ORPHA:226307
HP:0000470	Short neck	8820	HESX1	ORPHA:226307
HP:0000470	Short neck	1857	DVL3	ORPHA:3107
HP:0000470	Short neck	1857	DVL3	OMIM:616894
HP:0000470	Short neck	2535	FZD2	ORPHA:3107
HP:0000470	Short neck	285175	UNC80	OMIM:616801
HP:0000470	Short neck	285175	UNC80	ORPHA:371364
HP:0000470	Short neck	54499	TMCO1	OMIM:213980
HP:0000470	Short neck	54499	TMCO1	ORPHA:1394
HP:0000470	Short neck	11128	POLR3A	OMIM:264090
HP:0000470	Short neck	55165	CEP55	OMIM:236500
HP:0000470	Short neck	157570	ESCO2	ORPHA:3103
HP:0000470	Short neck	157570	ESCO2	OMIM:268300
HP:0000470	Short neck	10236	HNRNPR	OMIM:620073
HP:0000470	Short neck	4089	SMAD4	OMIM:139210
HP:0000470	Short neck	5594	MAPK1	OMIM:619087
HP:0000470	Short neck	1654	DDX3X	ORPHA:3338
HP:0000470	Short neck	388015	RTL1	ORPHA:96334
HP:0000470	Short neck	8788	DLK1	ORPHA:96334
HP:0000470	Short neck	55384	MEG3	ORPHA:96334
HP:0000470	Short neck	3911	LAMA5	OMIM:620076
HP:0000470	Short neck	145873	MESP2	OMIM:608681
HP:0000470	Short neck	145873	MESP2	OMIM:277300
HP:0000470	Short neck	145873	MESP2	ORPHA:2311
HP:0000470	Short neck	546	ATRX	OMIM:309580
HP:0000470	Short neck	7140	TNNT3	ORPHA:1147
HP:0000470	Short neck	7136	TNNI2	ORPHA:1147
HP:0000470	Short neck	6611	SMS	OMIM:309583
HP:0000470	Short neck	51322	WAC	OMIM:616708
HP:0000470	Short neck	9321	TRIP11	ORPHA:93299
HP:0000470	Short neck	9321	TRIP11	OMIM:200600
HP:0000470	Short neck	2010	EMD	ORPHA:98863
HP:0000470	Short neck	79158	GNPTAB	ORPHA:423461
HP:0000470	Short neck	701	BUB1B	OMIM:257300
HP:0000470	Short neck	10682	EBP	OMIM:302960
HP:0000470	Short neck	5781	PTPN11	OMIM:151100
HP:0000470	Short neck	5781	PTPN11	OMIM:163950
HP:0000470	Short neck	29123	ANKRD11	OMIM:148050
HP:0000470	Short neck	29123	ANKRD11	ORPHA:2332
HP:0000470	Short neck	2703	GJA8	OMIM:612474
HP:0000470	Short neck	2702	GJA5	OMIM:612474
HP:0000470	Short neck	867	CBL	OMIM:613563
HP:0000470	Short neck	51025	PAM16	OMIM:613320
HP:0000470	Short neck	84667	HES7	OMIM:613686
HP:0000470	Short neck	84667	HES7	ORPHA:2311
HP:0000470	Short neck	9573	GDF3	ORPHA:2345
HP:0000470	Short neck	4352	MPL	ORPHA:3319
HP:0000470	Short neck	7066	THPO	ORPHA:3319
HP:0000470	Short neck	27152	INTU	OMIM:617925
HP:0000470	Short neck	27152	INTU	OMIM:617926
HP:0000470	Short neck	2245	FGD1	ORPHA:915
HP:0000470	Short neck	2245	FGD1	OMIM:305400
HP:0000470	Short neck	90417	KNSTRN	OMIM:613328
HP:0000470	Short neck	5293	PIK3CD	OMIM:613328
HP:0000470	Short neck	6888	TALDO1	OMIM:606003
HP:0000470	Short neck	2261	FGFR3	OMIM:187600
HP:0000470	Short neck	55906	ZC4H2	OMIM:301041
HP:0000470	Short neck	55906	ZC4H2	OMIM:314580
HP:0000470	Short neck	27238	GPKOW	ORPHA:2570
HP:0000470	Short neck	579	NKX3-2	OMIM:613330
HP:0000470	Short neck	100151683	RNU4ATAC	OMIM:210710
HP:0000470	Short neck	100151683	RNU4ATAC	ORPHA:2636
HP:0000470	Short neck	2335	FN1	ORPHA:93315
HP:0000470	Short neck	9759	HDAC4	ORPHA:1001
HP:0000470	Short neck	54361	WNT4	ORPHA:2578
HP:0000470	Short neck	54361	WNT4	ORPHA:247768
HP:0000470	Short neck	6928	HNF1B	ORPHA:2578
HP:0000470	Short neck	4854	NOTCH3	OMIM:130720
HP:0000470	Short neck	4854	NOTCH3	ORPHA:2789
HP:0000470	Short neck	113179	ADAT3	ORPHA:363528
HP:0000470	Short neck	3313	HSPA9	OMIM:616854
HP:0000470	Short neck	4893	NRAS	OMIM:613224
HP:0000470	Short neck	91869	RFT1	OMIM:612015
HP:0000470	Short neck	10982	MAPRE2	OMIM:616734
HP:0000470	Short neck	10683	DLL3	OMIM:277300
HP:0000470	Short neck	10683	DLL3	ORPHA:2311
HP:0000470	Short neck	4204	MECP2	OMIM:300055
HP:0000470	Short neck	2068	ERCC2	ORPHA:1466
HP:0000470	Short neck	2067	ERCC1	ORPHA:1466
HP:0000470	Short neck	2074	ERCC6	ORPHA:1466
HP:0000470	Short neck	2073	ERCC5	ORPHA:1466
HP:0000470	Short neck	5925	RB1	ORPHA:1587
HP:0000470	Short neck	23511	NUP188	OMIM:618804
HP:0000470	Short neck	134701	RIPPLY2	ORPHA:2311
HP:0000470	Short neck	3955	LFNG	ORPHA:2311
HP:0000470	Short neck	5605	MAP2K2	ORPHA:1340
HP:0000470	Short neck	64131	XYLT1	OMIM:615777
HP:0000470	Short neck	64131	XYLT1	ORPHA:1425
HP:0000470	Short neck	10943	MSL3	OMIM:301032
HP:0000470	Short neck	5718	PSMD12	ORPHA:529962
HP:0000470	Short neck	2186	BPTF	ORPHA:529962
HP:0000470	Short neck	84342	COG8	OMIM:611182
HP:0000470	Short neck	55969	RAB5IF	OMIM:616994
HP:0000470	Short neck	6638	SNRPN	ORPHA:177907
HP:0000470	Short neck	2313	FLI1	ORPHA:2308
HP:0000470	Short neck	29980	DONSON	OMIM:251230
HP:0000470	Short neck	60	ACTB	OMIM:243310
HP:0000470	Short neck	60	ACTB	ORPHA:2995
HP:0000470	Short neck	23476	BRD4	ORPHA:199
HP:0000470	Short neck	6878	TAF6	ORPHA:199
HP:0000470	Short neck	5885	RAD21	ORPHA:199
HP:0000470	Short neck	71	ACTG1	OMIM:614583
HP:0000470	Short neck	71	ACTG1	ORPHA:2995
HP:0000470	Short neck	10367	MICU1	OMIM:615673
HP:0000470	Short neck	2588	GALNS	OMIM:253000
HP:0000470	Short neck	1861	TOR1A	OMIM:618947
HP:0000470	Short neck	91461	PKDCC	OMIM:618821
HP:0000470	Short neck	6182	MRPL12	OMIM:618951
HP:0000470	Short neck	202018	TAPT1	OMIM:616897
HP:0000470	Short neck	1806	DPYD	ORPHA:1675
HP:0000470	Short neck	28957	MRPS28	OMIM:618958
HP:0000470	Short neck	5500	PPP1CB	OMIM:617506
HP:0000470	Short neck	9786	KIAA0586	OMIM:616546
HP:0000470	Short neck	84700	MYO18B	OMIM:616549
HP:0000470	Short neck	10225	CD96	ORPHA:1308
HP:0000470	Short neck	55790	CSGALNACT1	ORPHA:1425
HP:0000470	Short neck	6910	TBX5	OMIM:142900
HP:0000470	Short neck	26229	B3GAT3	OMIM:245600
HP:0000470	Short neck	83452	RAB33B	OMIM:615222
HP:0000470	Short neck	22861	NLRP1	OMIM:615225
HP:0000470	Short neck	64221	ROBO3	ORPHA:2744
HP:0000470	Short neck	1630	DCC	ORPHA:2744
HP:0000470	Short neck	6655	SOS2	OMIM:616559
HP:0005994	Nodular goiter	23405	DICER1	OMIM:180295
HP:0005994	Nodular goiter	23405	DICER1	ORPHA:276399
HP:0005994	Nodular goiter	7840	ALMS1	OMIM:203800
HP:0005994	Nodular goiter	9817	KEAP1	ORPHA:276399
HP:0005994	Nodular goiter	8379	MAD1L1	OMIM:620189
HP:0005994	Nodular goiter	83550	GPR101	ORPHA:963
HP:0005994	Nodular goiter	9049	AIP	ORPHA:963
HP:0005994	Nodular goiter	23328	SASH1	OMIM:618373
HP:0005994	Nodular goiter	4313	MMP2	ORPHA:371428
HP:0005994	Nodular goiter	4323	MMP14	ORPHA:371428
HP:0005994	Nodular goiter	5979	RET	OMIM:162300
HP:0005994	Nodular goiter	2304	FOXE1	ORPHA:319487
HP:0005994	Nodular goiter	3026	HABP2	ORPHA:319487
HP:0005994	Nodular goiter	9562	MINPP1	ORPHA:319487
HP:0005995	Decreased adipose tissue around neck	857	CAV1	OMIM:606721
HP:0005995	Decreased adipose tissue around neck	10269	ZMPSTE24	OMIM:608612
HP:0005997	Neck joint contracture	4000	LMNA	OMIM:181350
HP:0005997	Neck joint contracture	11160	ERLIN2	ORPHA:209951
HP:0005997	Neck joint contracture	4621	MYH3	OMIM:193700
HP:0005997	Neck joint contracture	1292	COL6A2	OMIM:255600
HP:0000076	Vesicoureteral reflux	25970	SH2B1	ORPHA:261222
HP:0000076	Vesicoureteral reflux	5076	PAX2	ORPHA:97362
HP:0000076	Vesicoureteral reflux	5076	PAX2	ORPHA:1475
HP:0000076	Vesicoureteral reflux	5076	PAX2	OMIM:120330
HP:0000076	Vesicoureteral reflux	5087	PBX1	ORPHA:97362
HP:0000076	Vesicoureteral reflux	5087	PBX1	OMIM:617641
HP:0000076	Vesicoureteral reflux	10617	STAMBP	OMIM:614261
HP:0000076	Vesicoureteral reflux	8294	H4C9	OMIM:619951
HP:0000076	Vesicoureteral reflux	2138	EYA1	OMIM:113650
HP:0000076	Vesicoureteral reflux	2138	EYA1	ORPHA:107
HP:0000076	Vesicoureteral reflux	6495	SIX1	OMIM:113650
HP:0000076	Vesicoureteral reflux	6495	SIX1	OMIM:605192
HP:0000076	Vesicoureteral reflux	6495	SIX1	ORPHA:107
HP:0000076	Vesicoureteral reflux	54892	NCAPG2	OMIM:618460
HP:0000076	Vesicoureteral reflux	9860	LRIG2	OMIM:615112
HP:0000076	Vesicoureteral reflux	9860	LRIG2	ORPHA:2704
HP:0000076	Vesicoureteral reflux	26128	KIFBP	OMIM:609460
HP:0000076	Vesicoureteral reflux	23556	PIGN	ORPHA:2059
HP:0000076	Vesicoureteral reflux	23556	PIGN	OMIM:614080
HP:0000076	Vesicoureteral reflux	1788	DNMT3A	OMIM:615879
HP:0000076	Vesicoureteral reflux	5361	PLXNA1	OMIM:619955
HP:0000076	Vesicoureteral reflux	253738	EBF3	ORPHA:96148
HP:0000076	Vesicoureteral reflux	253738	EBF3	OMIM:617330
HP:0000076	Vesicoureteral reflux	3209	HOXA13	OMIM:140000
HP:0000076	Vesicoureteral reflux	3209	HOXA13	ORPHA:2438
HP:0000076	Vesicoureteral reflux	90459	ERI1	OMIM:620663
HP:0000076	Vesicoureteral reflux	90459	ERI1	OMIM:620662
HP:0000076	Vesicoureteral reflux	4774	NFIA	OMIM:613735
HP:0000076	Vesicoureteral reflux	79813	EHMT1	ORPHA:96147
HP:0000076	Vesicoureteral reflux	79813	EHMT1	ORPHA:261652
HP:0000076	Vesicoureteral reflux	10992	SF3B2	OMIM:164210
HP:0000076	Vesicoureteral reflux	85358	SHANK3	OMIM:606232
HP:0000076	Vesicoureteral reflux	1131	CHRM3	ORPHA:2970
HP:0000076	Vesicoureteral reflux	57167	SALL4	OMIM:607323
HP:0000076	Vesicoureteral reflux	57167	SALL4	ORPHA:959
HP:0000076	Vesicoureteral reflux	8626	TP63	OMIM:604292
HP:0000076	Vesicoureteral reflux	8626	TP63	ORPHA:93930
HP:0000076	Vesicoureteral reflux	8626	TP63	ORPHA:1896
HP:0000076	Vesicoureteral reflux	81839	VANGL1	ORPHA:3027
HP:0000076	Vesicoureteral reflux	80199	FUZ	ORPHA:3027
HP:0000076	Vesicoureteral reflux	64324	NSD1	ORPHA:821
HP:0000076	Vesicoureteral reflux	10297	APC2	ORPHA:821
HP:0000076	Vesicoureteral reflux	5447	POR	ORPHA:95699
HP:0000076	Vesicoureteral reflux	55593	OTUD5	OMIM:301056
HP:0000076	Vesicoureteral reflux	3190	HNRNPK	ORPHA:453504
HP:0000076	Vesicoureteral reflux	3190	HNRNPK	OMIM:616580
HP:0000076	Vesicoureteral reflux	3190	HNRNPK	ORPHA:352665
HP:0000076	Vesicoureteral reflux	27125	AFF4	ORPHA:444077
HP:0000076	Vesicoureteral reflux	27125	AFF4	OMIM:616368
HP:0000076	Vesicoureteral reflux	80114	BICC1	OMIM:601331
HP:0000076	Vesicoureteral reflux	6299	SALL1	OMIM:107480
HP:0000076	Vesicoureteral reflux	6299	SALL1	ORPHA:857
HP:0000076	Vesicoureteral reflux	4281	MID1	OMIM:300000
HP:0000076	Vesicoureteral reflux	4281	MID1	ORPHA:2745
HP:0000076	Vesicoureteral reflux	23498	HAAO	OMIM:617660
HP:0000076	Vesicoureteral reflux	1387	CREBBP	ORPHA:353281
HP:0000076	Vesicoureteral reflux	1387	CREBBP	ORPHA:353277
HP:0000076	Vesicoureteral reflux	51506	UFC1	OMIM:618076
HP:0000076	Vesicoureteral reflux	473	RERE	OMIM:616975
HP:0000076	Vesicoureteral reflux	473	RERE	ORPHA:494344
HP:0000076	Vesicoureteral reflux	3313	HSPA9	OMIM:616854
HP:0000076	Vesicoureteral reflux	55215	FANCI	OMIM:609053
HP:0000076	Vesicoureteral reflux	72	ACTG2	ORPHA:2604
HP:0000076	Vesicoureteral reflux	72	ACTG2	OMIM:155310
HP:0000076	Vesicoureteral reflux	2033	EP300	ORPHA:353284
HP:0000076	Vesicoureteral reflux	9915	ARNT2	OMIM:615926
HP:0000076	Vesicoureteral reflux	6092	ROBO2	OMIM:610878
HP:0000076	Vesicoureteral reflux	55636	CHD7	ORPHA:138
HP:0000076	Vesicoureteral reflux	9723	SEMA3E	ORPHA:138
HP:0000076	Vesicoureteral reflux	2188	FANCF	OMIM:603467
HP:0000076	Vesicoureteral reflux	23005	MAPKBP1	OMIM:617271
HP:0000076	Vesicoureteral reflux	2263	FGFR2	ORPHA:93260
HP:0000076	Vesicoureteral reflux	2263	FGFR2	ORPHA:2363
HP:0000076	Vesicoureteral reflux	51473	DCDC2	OMIM:617394
HP:0000076	Vesicoureteral reflux	284058	KANSL1	ORPHA:363958
HP:0000076	Vesicoureteral reflux	284058	KANSL1	ORPHA:363965
HP:0000076	Vesicoureteral reflux	284058	KANSL1	OMIM:610443
HP:0000076	Vesicoureteral reflux	1136	CHRNA3	OMIM:191800
HP:0000076	Vesicoureteral reflux	9401	RECQL4	ORPHA:1225
HP:0000076	Vesicoureteral reflux	10616	RBCK1	OMIM:615895
HP:0000076	Vesicoureteral reflux	1108	CHD4	OMIM:617159
HP:0000076	Vesicoureteral reflux	9675	TTI1	OMIM:620445
HP:0000076	Vesicoureteral reflux	7080	NKX2-1	ORPHA:209905
HP:0000076	Vesicoureteral reflux	1312	COMT	ORPHA:567
HP:0000076	Vesicoureteral reflux	221037	JMJD1C	ORPHA:567
HP:0000076	Vesicoureteral reflux	2812	GP1BB	ORPHA:567
HP:0000076	Vesicoureteral reflux	6239	RREB1	ORPHA:567
HP:0000076	Vesicoureteral reflux	6899	TBX1	ORPHA:567
HP:0000076	Vesicoureteral reflux	7290	HIRA	ORPHA:567
HP:0000076	Vesicoureteral reflux	9632	SEC24C	ORPHA:567
HP:0000076	Vesicoureteral reflux	7353	UFD1	ORPHA:567
HP:0000076	Vesicoureteral reflux	421	ARVCF	ORPHA:567
HP:0000076	Vesicoureteral reflux	3670	ISL1	ORPHA:93930
HP:0000076	Vesicoureteral reflux	25778	DSTYK	OMIM:610805
HP:0000076	Vesicoureteral reflux	22827	PUF60	ORPHA:508488
HP:0000076	Vesicoureteral reflux	9839	ZEB2	ORPHA:261552
HP:0000076	Vesicoureteral reflux	9839	ZEB2	ORPHA:261537
HP:0000076	Vesicoureteral reflux	10524	KAT5	OMIM:619103
HP:0000076	Vesicoureteral reflux	1656	DDX6	OMIM:618653
HP:0000076	Vesicoureteral reflux	5718	PSMD12	ORPHA:529962
HP:0000076	Vesicoureteral reflux	2186	BPTF	ORPHA:529962
HP:0000076	Vesicoureteral reflux	5277	PIGA	OMIM:300868
HP:0000076	Vesicoureteral reflux	6885	MAP3K7	OMIM:157800
HP:0000076	Vesicoureteral reflux	57178	ZMIZ1	OMIM:618659
HP:0000076	Vesicoureteral reflux	8550	MAPKAPK5	OMIM:619869
HP:0000076	Vesicoureteral reflux	60495	HPSE2	ORPHA:2704
HP:0000076	Vesicoureteral reflux	80781	COL18A1	ORPHA:1571
HP:0000076	Vesicoureteral reflux	5062	PAK2	ORPHA:1571
HP:0000076	Vesicoureteral reflux	54496	PRMT7	ORPHA:464288
HP:0000076	Vesicoureteral reflux	3192	HNRNPU	ORPHA:238769
HP:0000076	Vesicoureteral reflux	23476	BRD4	ORPHA:199
HP:0000076	Vesicoureteral reflux	9126	SMC3	ORPHA:199
HP:0000076	Vesicoureteral reflux	8243	SMC1A	ORPHA:199
HP:0000076	Vesicoureteral reflux	6878	TAF6	ORPHA:199
HP:0000076	Vesicoureteral reflux	25836	NIPBL	ORPHA:199
HP:0000076	Vesicoureteral reflux	25836	NIPBL	OMIM:122470
HP:0000076	Vesicoureteral reflux	55869	HDAC8	ORPHA:199
HP:0000076	Vesicoureteral reflux	5885	RAD21	ORPHA:199
HP:0000076	Vesicoureteral reflux	5885	RAD21	ORPHA:502
HP:0000076	Vesicoureteral reflux	5885	RAD21	OMIM:611376
HP:0000076	Vesicoureteral reflux	92482	BBIP1	ORPHA:110
HP:0000076	Vesicoureteral reflux	80184	CEP290	ORPHA:110
HP:0000076	Vesicoureteral reflux	11020	IFT27	ORPHA:110
HP:0000076	Vesicoureteral reflux	582	BBS1	ORPHA:110
HP:0000076	Vesicoureteral reflux	49855	SCAPER	ORPHA:110
HP:0000076	Vesicoureteral reflux	4867	NPHP1	ORPHA:110
HP:0000076	Vesicoureteral reflux	51057	WDPCP	ORPHA:110
HP:0000076	Vesicoureteral reflux	132320	SCLT1	ORPHA:110
HP:0000076	Vesicoureteral reflux	27241	BBS9	ORPHA:110
HP:0000076	Vesicoureteral reflux	84984	CEP19	ORPHA:110
HP:0000076	Vesicoureteral reflux	22954	TRIM32	ORPHA:110
HP:0000076	Vesicoureteral reflux	54903	MKS1	ORPHA:110
HP:0000076	Vesicoureteral reflux	79738	BBS10	ORPHA:110
HP:0000076	Vesicoureteral reflux	123016	TTC8	ORPHA:110
HP:0000076	Vesicoureteral reflux	26160	IFT172	ORPHA:110
HP:0000076	Vesicoureteral reflux	583	BBS2	ORPHA:110
HP:0000076	Vesicoureteral reflux	585	BBS4	ORPHA:110
HP:0000076	Vesicoureteral reflux	8195	MKKS	ORPHA:110
HP:0000076	Vesicoureteral reflux	54585	LZTFL1	ORPHA:110
HP:0000076	Vesicoureteral reflux	55212	BBS7	ORPHA:110
HP:0000076	Vesicoureteral reflux	166379	BBS12	ORPHA:110
HP:0000076	Vesicoureteral reflux	10806	SDCCAG8	ORPHA:110
HP:0000076	Vesicoureteral reflux	157657	CFAP418	ORPHA:110
HP:0000076	Vesicoureteral reflux	84100	ARL6	ORPHA:110
HP:0000076	Vesicoureteral reflux	129880	BBS5	ORPHA:110
HP:0000076	Vesicoureteral reflux	80173	IFT74	ORPHA:110
HP:0000076	Vesicoureteral reflux	4613	MYCN	ORPHA:391641
HP:0000076	Vesicoureteral reflux	5530	PPP3CA	OMIM:618265
HP:0000076	Vesicoureteral reflux	6135	RPL11	OMIM:612562
HP:0000076	Vesicoureteral reflux	92002	CCNQ	OMIM:300707
HP:0000076	Vesicoureteral reflux	92002	CCNQ	ORPHA:140952
HP:0000076	Vesicoureteral reflux	6804	STX1A	ORPHA:904
HP:0000076	Vesicoureteral reflux	7461	CLIP2	ORPHA:904
HP:0000076	Vesicoureteral reflux	84277	DNAJC30	ORPHA:904
HP:0000076	Vesicoureteral reflux	8468	FKBP6	ORPHA:904
HP:0000076	Vesicoureteral reflux	5982	RFC2	ORPHA:904
HP:0000076	Vesicoureteral reflux	2969	GTF2I	ORPHA:904
HP:0000076	Vesicoureteral reflux	3984	LIMK1	ORPHA:904
HP:0000076	Vesicoureteral reflux	9569	GTF2IRD1	ORPHA:904
HP:0000076	Vesicoureteral reflux	155382	VPS37D	ORPHA:904
HP:0000076	Vesicoureteral reflux	155368	METTL27	ORPHA:904
HP:0000076	Vesicoureteral reflux	114049	BUD23	ORPHA:904
HP:0000076	Vesicoureteral reflux	7458	EIF4H	ORPHA:904
HP:0000076	Vesicoureteral reflux	84163	GTF2IRD2	ORPHA:904
HP:0000076	Vesicoureteral reflux	26608	TBL2	ORPHA:904
HP:0000076	Vesicoureteral reflux	653361	NCF1	ORPHA:904
HP:0000076	Vesicoureteral reflux	135886	TMEM270	ORPHA:904
HP:0000076	Vesicoureteral reflux	9031	BAZ1B	ORPHA:904
HP:0000076	Vesicoureteral reflux	2006	ELN	ORPHA:904
HP:0000076	Vesicoureteral reflux	2006	ELN	OMIM:194050
HP:0000076	Vesicoureteral reflux	9091	PIGQ	OMIM:618548
HP:0000076	Vesicoureteral reflux	84720	PIGO	OMIM:614749
HP:0000076	Vesicoureteral reflux	54796	BNC2	ORPHA:93110
HP:0000076	Vesicoureteral reflux	54796	BNC2	OMIM:618612
HP:0000076	Vesicoureteral reflux	8405	SPOP	OMIM:618828
HP:0000076	Vesicoureteral reflux	147912	SIX5	ORPHA:107
HP:0000076	Vesicoureteral reflux	2131	EXT1	ORPHA:502
HP:0000076	Vesicoureteral reflux	7227	TRPS1	ORPHA:502
HP:0000076	Vesicoureteral reflux	8204	NRIP1	OMIM:618270
HP:0000076	Vesicoureteral reflux	58508	KMT2C	ORPHA:261652
HP:0000076	Vesicoureteral reflux	8318	CDC45	OMIM:617063
HP:0000076	Vesicoureteral reflux	253959	RALGAPA1	OMIM:618797
HP:0000076	Vesicoureteral reflux	1857	DVL3	OMIM:616894
HP:0000076	Vesicoureteral reflux	51339	DACT1	OMIM:617466
HP:0000076	Vesicoureteral reflux	51339	DACT1	ORPHA:857
HP:0000076	Vesicoureteral reflux	7148	TNXB	OMIM:615963
HP:0000076	Vesicoureteral reflux	7148	TNXB	OMIM:606408
HP:0000076	Vesicoureteral reflux	3110	MNX1	ORPHA:1552
HP:0000076	Vesicoureteral reflux	3110	MNX1	OMIM:176450
HP:0000076	Vesicoureteral reflux	182	JAG1	OMIM:118450
HP:0000076	Vesicoureteral reflux	2261	FGFR3	ORPHA:2363
HP:0000076	Vesicoureteral reflux	2255	FGF10	ORPHA:2363
HP:0000076	Vesicoureteral reflux	2316	FLNA	ORPHA:2484
HP:0000076	Vesicoureteral reflux	51085	MLXIPL	OMIM:194050
HP:0000076	Vesicoureteral reflux	5080	PAX6	OMIM:120200
HP:0000076	Vesicoureteral reflux	11128	POLR3A	ORPHA:3455
HP:0000076	Vesicoureteral reflux	9968	MED12	OMIM:301068
HP:0000076	Vesicoureteral reflux	7369	UMOD	OMIM:162000
HP:0000076	Vesicoureteral reflux	64220	STRA6	ORPHA:2470
HP:0000076	Vesicoureteral reflux	7477	WNT7B	ORPHA:2470
HP:0000076	Vesicoureteral reflux	5915	RARB	ORPHA:2470
HP:0000076	Vesicoureteral reflux	1028	CDKN1C	OMIM:130650
HP:0000076	Vesicoureteral reflux	3481	IGF2	OMIM:130650
HP:0000076	Vesicoureteral reflux	3784	KCNQ1	OMIM:130650
HP:0000076	Vesicoureteral reflux	10984	KCNQ1OT1	OMIM:130650
HP:0000076	Vesicoureteral reflux	51360	MBTPS2	ORPHA:85284
HP:0000076	Vesicoureteral reflux	546	ATRX	OMIM:309580
HP:0000076	Vesicoureteral reflux	2625	GATA3	ORPHA:2237
HP:0000076	Vesicoureteral reflux	6389	SDHA	ORPHA:3208
HP:0000076	Vesicoureteral reflux	6390	SDHB	ORPHA:3208
HP:0000076	Vesicoureteral reflux	6392	SDHD	ORPHA:3208
HP:0000076	Vesicoureteral reflux	644096	SDHAF1	ORPHA:3208
HP:0000076	Vesicoureteral reflux	4052	LTBP1	ORPHA:90349
HP:0000076	Vesicoureteral reflux	30008	EFEMP2	ORPHA:90349
HP:0000076	Vesicoureteral reflux	10516	FBLN5	ORPHA:90349
HP:0000076	Vesicoureteral reflux	9939	RBM8A	OMIM:274000
HP:0000076	Vesicoureteral reflux	147372	CCBE1	OMIM:235510
HP:0000076	Vesicoureteral reflux	9276	COPB2	ORPHA:2512
HP:0000076	Vesicoureteral reflux	11113	CIT	ORPHA:2512
HP:0000076	Vesicoureteral reflux	9928	KIF14	ORPHA:2512
HP:0000076	Vesicoureteral reflux	22995	CEP152	ORPHA:2512
HP:0000076	Vesicoureteral reflux	284403	WDR62	ORPHA:2512
HP:0000076	Vesicoureteral reflux	55262	TRAPPC14	ORPHA:2512
HP:0000076	Vesicoureteral reflux	163786	SASS6	ORPHA:2512
HP:0000076	Vesicoureteral reflux	29920	PYCR2	ORPHA:2512
HP:0000076	Vesicoureteral reflux	84879	MFSD2A	ORPHA:2512
HP:0000076	Vesicoureteral reflux	4176	MCM7	ORPHA:2512
HP:0000076	Vesicoureteral reflux	80254	CEP63	ORPHA:2512
HP:0000076	Vesicoureteral reflux	29081	METTL5	ORPHA:2512
HP:0000076	Vesicoureteral reflux	79023	NUP37	ORPHA:2512
HP:0000076	Vesicoureteral reflux	23310	NCAPD3	ORPHA:2512
HP:0000076	Vesicoureteral reflux	6301	SARS1	ORPHA:2512
HP:0000076	Vesicoureteral reflux	55755	CDK5RAP2	ORPHA:2512
HP:0000076	Vesicoureteral reflux	79648	MCPH1	ORPHA:2512
HP:0000076	Vesicoureteral reflux	6491	STIL	ORPHA:2512
HP:0000076	Vesicoureteral reflux	23141	ANKLE2	ORPHA:2512
HP:0000076	Vesicoureteral reflux	259266	ASPM	ORPHA:2512
HP:0000076	Vesicoureteral reflux	7109	TRAPPC10	ORPHA:2512
HP:0000076	Vesicoureteral reflux	7453	WARS1	ORPHA:2512
HP:0000076	Vesicoureteral reflux	1911	PHC1	ORPHA:2512
HP:0000076	Vesicoureteral reflux	1062	CENPE	ORPHA:2512
HP:0000076	Vesicoureteral reflux	6884	TAF13	ORPHA:2512
HP:0000076	Vesicoureteral reflux	9662	CEP135	ORPHA:2512
HP:0000076	Vesicoureteral reflux	57082	KNL1	ORPHA:2512
HP:0000076	Vesicoureteral reflux	1021	CDK6	ORPHA:2512
HP:0000076	Vesicoureteral reflux	9203	ZMYM3	OMIM:301111
HP:0000076	Vesicoureteral reflux	171023	ASXL1	OMIM:605039
HP:0000076	Vesicoureteral reflux	8295	TRRAP	OMIM:618454
HP:0000076	Vesicoureteral reflux	7319	UBE2A	ORPHA:163956
HP:0000076	Vesicoureteral reflux	5908	RAP1B	OMIM:620654
HP:0000076	Vesicoureteral reflux	80000	GREB1L	OMIM:617805
HP:0000076	Vesicoureteral reflux	8085	KMT2D	OMIM:147920
HP:0000076	Vesicoureteral reflux	7403	KDM6A	OMIM:147920
HP:0000076	Vesicoureteral reflux	55898	UNC45A	OMIM:619377
HP:0000076	Vesicoureteral reflux	64321	SOX17	OMIM:613674
HP:0000076	Vesicoureteral reflux	7750	ZMYM2	OMIM:619522
HP:0005999	Ureteral atresia	55191	NADSYN1	OMIM:618845
HP:0005999	Ureteral atresia	57724	EPG5	ORPHA:1493
HP:0005999	Ureteral atresia	27031	NPHP3	OMIM:208540
HP:0002740	Recurrent E. coli infections	4688	NCF2	OMIM:233710
HP:0002740	Recurrent E. coli infections	1536	CYBB	OMIM:306400
HP:0002740	Recurrent E. coli infections	653361	NCF1	OMIM:233700
HP:0002740	Recurrent E. coli infections	1535	CYBA	OMIM:233690
HP:0002741	Recurrent Serratia marcescens infections	4688	NCF2	OMIM:233710
HP:0002741	Recurrent Serratia marcescens infections	1536	CYBB	OMIM:306400
HP:0002741	Recurrent Serratia marcescens infections	653361	NCF1	OMIM:233700
HP:0002741	Recurrent Serratia marcescens infections	1535	CYBA	OMIM:233690
HP:0002742	Recurrent Klebsiella infections	4688	NCF2	OMIM:233710
HP:0002742	Recurrent Klebsiella infections	1536	CYBB	OMIM:306400
HP:0002742	Recurrent Klebsiella infections	653361	NCF1	OMIM:233700
HP:0002742	Recurrent Klebsiella infections	1535	CYBA	OMIM:233690
HP:0002742	Recurrent Klebsiella infections	3594	IL12RB1	ORPHA:319552
HP:0002742	Recurrent Klebsiella infections	4153	MBL2	OMIM:614372
HP:0002743	Recurrent enteroviral infections	3507	IGHM	OMIM:601495
HP:0002743	Recurrent enteroviral infections	5896	RAG1	ORPHA:331206
HP:0002743	Recurrent enteroviral infections	5897	RAG2	ORPHA:331206
HP:0002743	Recurrent enteroviral infections	695	BTK	OMIM:307200
HP:0002743	Recurrent enteroviral infections	3431	SP110	ORPHA:79124
HP:0100337	Bilateral cleft palate	5727	PTCH1	OMIM:610828
HP:0100337	Bilateral cleft palate	9968	MED12	OMIM:301068
HP:0100337	Bilateral cleft palate	2736	GLI2	OMIM:610829
HP:0100337	Bilateral cleft palate	1836	SLC26A2	ORPHA:56304
HP:0100337	Bilateral cleft palate	171023	ASXL1	OMIM:605039
HP:0100337	Bilateral cleft palate	57589	RIC1	ORPHA:199306
HP:0100337	Bilateral cleft palate	5818	NECTIN1	ORPHA:199306
HP:0100337	Bilateral cleft palate	5818	NECTIN1	ORPHA:3253
HP:0100337	Bilateral cleft palate	1739	DLG1	ORPHA:199306
HP:0100337	Bilateral cleft palate	999	CDH1	ORPHA:199306
HP:0100337	Bilateral cleft palate	999	CDH1	ORPHA:1997
HP:0100337	Bilateral cleft palate	5156	PDGFRA	ORPHA:199306
HP:0100337	Bilateral cleft palate	3664	IRF6	ORPHA:199306
HP:0100337	Bilateral cleft palate	1748	DLX4	ORPHA:199306
HP:0100337	Bilateral cleft palate	1748	DLX4	OMIM:616788
HP:0100337	Bilateral cleft palate	4487	MSX1	ORPHA:199306
HP:0100337	Bilateral cleft palate	652	BMP4	ORPHA:199306
HP:0100337	Bilateral cleft palate	8626	TP63	ORPHA:199306
HP:0100337	Bilateral cleft palate	22837	COBLL1	ORPHA:199306
HP:0100337	Bilateral cleft palate	54848	ARHGEF38	ORPHA:199306
HP:0100337	Bilateral cleft palate	9411	ARHGAP29	ORPHA:199306
HP:0100337	Bilateral cleft palate	10413	YAP1	ORPHA:1473
HP:0100337	Bilateral cleft palate	6154	RPL26	OMIM:614900
HP:0100337	Bilateral cleft palate	1147	CHUK	OMIM:619339
HP:0100337	Bilateral cleft palate	8405	SPOP	OMIM:618829
HP:0100337	Bilateral cleft palate	6496	SIX3	OMIM:157170
HP:0100337	Bilateral cleft palate	1500	CTNND1	ORPHA:1997
HP:0002745	Oral leukoplakia	7298	TYMS	OMIM:620040
HP:0002745	Oral leukoplakia	7298	TYMS	ORPHA:1775
HP:0002745	Oral leukoplakia	26277	TINF2	OMIM:268130
HP:0002745	Oral leukoplakia	26277	TINF2	OMIM:613990
HP:0002745	Oral leukoplakia	26277	TINF2	ORPHA:3322
HP:0002745	Oral leukoplakia	26277	TINF2	ORPHA:1775
HP:0002745	Oral leukoplakia	26277	TINF2	OMIM:127550
HP:0002745	Oral leukoplakia	7157	TP53	OMIM:618165
HP:0002745	Oral leukoplakia	3851	KRT4	OMIM:193900
HP:0002745	Oral leukoplakia	55505	NOP10	OMIM:224230
HP:0002745	Oral leukoplakia	55505	NOP10	ORPHA:1775
HP:0002745	Oral leukoplakia	55651	NHP2	OMIM:224230
HP:0002745	Oral leukoplakia	55651	NHP2	ORPHA:1775
HP:0002745	Oral leukoplakia	55651	NHP2	OMIM:613987
HP:0002745	Oral leukoplakia	79651	RHBDF2	OMIM:148500
HP:0002745	Oral leukoplakia	286887	KRT6C	OMIM:615735
HP:0002745	Oral leukoplakia	3868	KRT16	OMIM:167200
HP:0002745	Oral leukoplakia	3868	KRT16	ORPHA:2309
HP:0002745	Oral leukoplakia	1736	DKC1	OMIM:305000
HP:0002745	Oral leukoplakia	1736	DKC1	ORPHA:3322
HP:0002745	Oral leukoplakia	1736	DKC1	ORPHA:1775
HP:0002745	Oral leukoplakia	51750	RTEL1	ORPHA:3322
HP:0002745	Oral leukoplakia	51750	RTEL1	ORPHA:1775
HP:0002745	Oral leukoplakia	65057	ACD	ORPHA:3322
HP:0002745	Oral leukoplakia	65057	ACD	OMIM:616553
HP:0002745	Oral leukoplakia	5073	PARN	ORPHA:3322
HP:0002745	Oral leukoplakia	5073	PARN	OMIM:616353
HP:0002745	Oral leukoplakia	5073	PARN	ORPHA:1775
HP:0002745	Oral leukoplakia	7015	TERT	ORPHA:3322
HP:0002745	Oral leukoplakia	7015	TERT	ORPHA:1775
HP:0002745	Oral leukoplakia	7015	TERT	OMIM:127550
HP:0002745	Oral leukoplakia	7015	TERT	OMIM:613989
HP:0002745	Oral leukoplakia	4210	MEFV	ORPHA:342
HP:0002745	Oral leukoplakia	831	CAST	OMIM:616295
HP:0002745	Oral leukoplakia	80169	CTC1	OMIM:612199
HP:0002745	Oral leukoplakia	80169	CTC1	ORPHA:1775
HP:0002745	Oral leukoplakia	79650	USB1	ORPHA:1775
HP:0002745	Oral leukoplakia	55135	WRAP53	ORPHA:1775
HP:0002745	Oral leukoplakia	55135	WRAP53	OMIM:613988
HP:0002745	Oral leukoplakia	4869	NPM1	ORPHA:1775
HP:0002745	Oral leukoplakia	7012	TERC	ORPHA:1775
HP:0002745	Oral leukoplakia	7012	TERC	OMIM:127550
HP:0002745	Oral leukoplakia	55612	FERMT1	OMIM:173650
HP:0002745	Oral leukoplakia	2706	GJB2	OMIM:148210
HP:0002745	Oral leukoplakia	6117	RPA1	OMIM:619767
HP:0002745	Oral leukoplakia	3872	KRT17	OMIM:167210
HP:0002745	Oral leukoplakia	3872	KRT17	ORPHA:2309
HP:0002745	Oral leukoplakia	3853	KRT6A	OMIM:615726
HP:0002745	Oral leukoplakia	3853	KRT6A	ORPHA:2309
HP:0002745	Oral leukoplakia	3854	KRT6B	ORPHA:2309
HP:0002745	Oral leukoplakia	64858	DCLRE1B	OMIM:620133
HP:0000176	Submucous cleft hard palate	9949	AMMECR1	OMIM:300990
HP:0000176	Submucous cleft hard palate	9653	HS2ST1	OMIM:619194
HP:0000176	Submucous cleft hard palate	3981	LIG4	ORPHA:235
HP:0000176	Submucous cleft hard palate	54888	NSUN2	ORPHA:235
HP:0000176	Submucous cleft hard palate	10735	STAG2	OMIM:301043
HP:0000176	Submucous cleft hard palate	23347	SMCHD1	ORPHA:2250
HP:0000176	Submucous cleft hard palate	6477	SIAH1	OMIM:619314
HP:0000176	Submucous cleft hard palate	63895	PIEZO2	OMIM:114300
HP:0000176	Submucous cleft hard palate	63895	PIEZO2	ORPHA:2461
HP:0000176	Submucous cleft hard palate	9791	PTDSS1	ORPHA:2658
HP:0000176	Submucous cleft hard palate	6228	RPS23	OMIM:617412
HP:0000176	Submucous cleft hard palate	5885	RAD21	OMIM:614701
HP:0000176	Submucous cleft hard palate	673	BRAF	OMIM:115150
HP:0000176	Submucous cleft hard palate	673	BRAF	ORPHA:1340
HP:0000176	Submucous cleft hard palate	8452	CUL3	OMIM:619239
HP:0000176	Submucous cleft hard palate	6418	SET	OMIM:618106
HP:0000176	Submucous cleft hard palate	1280	COL2A1	OMIM:108300
HP:0000176	Submucous cleft hard palate	9839	ZEB2	OMIM:235730
HP:0000176	Submucous cleft hard palate	5575	PRKAR1B	OMIM:619680
HP:0000176	Submucous cleft hard palate	54880	BCOR	OMIM:300166
HP:0000176	Submucous cleft hard palate	54880	BCOR	ORPHA:2712
HP:0000176	Submucous cleft hard palate	1718	DHCR24	ORPHA:35107
HP:0000176	Submucous cleft hard palate	8443	GNPAT	OMIM:222765
HP:0000176	Submucous cleft hard palate	23498	HAAO	OMIM:617660
HP:0000176	Submucous cleft hard palate	29998	BICRA	OMIM:619325
HP:0000176	Submucous cleft hard palate	6651	SON	OMIM:617140
HP:0000176	Submucous cleft hard palate	10220	GDF11	OMIM:619122
HP:0000176	Submucous cleft hard palate	6662	SOX9	OMIM:114290
HP:0000176	Submucous cleft hard palate	54487	DGCR8	OMIM:192430
HP:0000176	Submucous cleft hard palate	6899	TBX1	OMIM:192430
HP:0000176	Submucous cleft hard palate	8214	DGCR6	OMIM:192430
HP:0000176	Submucous cleft hard palate	8220	ESS2	OMIM:192430
HP:0000176	Submucous cleft hard palate	9993	DGCR2	OMIM:192430
HP:0000176	Submucous cleft hard palate	84892	POMGNT2	ORPHA:899
HP:0000176	Submucous cleft hard palate	148789	B3GALNT2	ORPHA:899
HP:0000176	Submucous cleft hard palate	79147	FKRP	ORPHA:899
HP:0000176	Submucous cleft hard palate	29954	POMT2	ORPHA:899
HP:0000176	Submucous cleft hard palate	9215	LARGE1	ORPHA:899
HP:0000176	Submucous cleft hard palate	1282	COL4A1	ORPHA:899
HP:0000176	Submucous cleft hard palate	729920	CRPPA	ORPHA:899
HP:0000176	Submucous cleft hard palate	10329	RXYLT1	ORPHA:899
HP:0000176	Submucous cleft hard palate	1605	DAG1	ORPHA:899
HP:0000176	Submucous cleft hard palate	11041	B4GAT1	ORPHA:899
HP:0000176	Submucous cleft hard palate	10585	POMT1	ORPHA:899
HP:0000176	Submucous cleft hard palate	84197	POMK	ORPHA:899
HP:0000176	Submucous cleft hard palate	2218	FKTN	ORPHA:899
HP:0000176	Submucous cleft hard palate	55624	POMGNT1	ORPHA:899
HP:0000176	Submucous cleft hard palate	3373	HYAL1	OMIM:601492
HP:0000176	Submucous cleft hard palate	5528	PPP2R5D	ORPHA:457279
HP:0000176	Submucous cleft hard palate	57479	PRR12	OMIM:619539
HP:0000176	Submucous cleft hard palate	100151683	RNU4ATAC	ORPHA:2636
HP:0000176	Submucous cleft hard palate	4000	LMNA	ORPHA:1662
HP:0000176	Submucous cleft hard palate	10269	ZMPSTE24	ORPHA:1662
HP:0000176	Submucous cleft hard palate	10269	ZMPSTE24	OMIM:275210
HP:0000176	Submucous cleft hard palate	93986	FOXP2	ORPHA:209908
HP:0000176	Submucous cleft hard palate	5604	MAP2K1	ORPHA:1340
HP:0000176	Submucous cleft hard palate	5605	MAP2K2	ORPHA:1340
HP:0000176	Submucous cleft hard palate	3845	KRAS	ORPHA:1340
HP:0000176	Submucous cleft hard palate	23522	KAT6B	ORPHA:3047
HP:0000176	Submucous cleft hard palate	6496	SIX3	OMIM:157170
HP:0000176	Submucous cleft hard palate	81620	CDT1	ORPHA:2554
HP:0000176	Submucous cleft hard palate	5000	ORC4	ORPHA:2554
HP:0000176	Submucous cleft hard palate	23594	ORC6	ORPHA:2554
HP:0000176	Submucous cleft hard palate	8318	CDC45	ORPHA:2554
HP:0000176	Submucous cleft hard palate	990	CDC6	ORPHA:2554
HP:0000176	Submucous cleft hard palate	990	CDC6	OMIM:613805
HP:0000176	Submucous cleft hard palate	4998	ORC1	ORPHA:2554
HP:0000176	Submucous cleft hard palate	51053	GMNN	ORPHA:2554
HP:0000176	Submucous cleft hard palate	26123	TCTN3	ORPHA:2753
HP:0000176	Submucous cleft hard palate	55553	SOX6	OMIM:618971
HP:0000176	Submucous cleft hard palate	10524	KAT5	OMIM:619103
HP:0000176	Submucous cleft hard palate	833	CARS1	OMIM:618891
HP:0000176	Submucous cleft hard palate	1009	CDH11	ORPHA:1299
HP:0000176	Submucous cleft hard palate	51729	WBP11	OMIM:619227
HP:0000176	Submucous cleft hard palate	219844	HYLS1	ORPHA:2189
HP:0000176	Submucous cleft hard palate	374654	KIF7	ORPHA:2189
HP:0000176	Submucous cleft hard palate	139285	AMER1	ORPHA:2780
HP:0000176	Submucous cleft hard palate	4089	SMAD4	ORPHA:2588
HP:0002747	Respiratory insufficiency due to muscle weakness	4359	MPZ	OMIM:618184
HP:0002747	Respiratory insufficiency due to muscle weakness	1145	CHRNE	OMIM:608931
HP:0002747	Respiratory insufficiency due to muscle weakness	1145	CHRNE	OMIM:605809
HP:0002747	Respiratory insufficiency due to muscle weakness	2673	GFPT1	OMIM:608931
HP:0002747	Respiratory insufficiency due to muscle weakness	1410	CRYAB	OMIM:608810
HP:0002747	Respiratory insufficiency due to muscle weakness	1410	CRYAB	ORPHA:399058
HP:0002747	Respiratory insufficiency due to muscle weakness	1291	COL6A1	OMIM:254090
HP:0002747	Respiratory insufficiency due to muscle weakness	1291	COL6A1	OMIM:158810
HP:0002747	Respiratory insufficiency due to muscle weakness	4574	MT-TS1	OMIM:220110
HP:0002747	Respiratory insufficiency due to muscle weakness	4574	MT-TS1	ORPHA:663
HP:0002747	Respiratory insufficiency due to muscle weakness	4570	MT-TN	OMIM:220110
HP:0002747	Respiratory insufficiency due to muscle weakness	4570	MT-TN	ORPHA:663
HP:0002747	Respiratory insufficiency due to muscle weakness	6834	SURF1	OMIM:220110
HP:0002747	Respiratory insufficiency due to muscle weakness	56203	LMOD3	OMIM:616165
HP:0002747	Respiratory insufficiency due to muscle weakness	7167	TPI1	OMIM:615512
HP:0002747	Respiratory insufficiency due to muscle weakness	50484	RRM2B	ORPHA:329336
HP:0002747	Respiratory insufficiency due to muscle weakness	246243	RNASEH1	ORPHA:329336
HP:0002747	Respiratory insufficiency due to muscle weakness	9782	MATR3	OMIM:606070
HP:0002747	Respiratory insufficiency due to muscle weakness	9782	MATR3	ORPHA:600
HP:0002747	Respiratory insufficiency due to muscle weakness	2066	ERBB4	OMIM:615515
HP:0002747	Respiratory insufficiency due to muscle weakness	1756	DMD	OMIM:310200
HP:0002747	Respiratory insufficiency due to muscle weakness	84334	COA8	ORPHA:436271
HP:0002747	Respiratory insufficiency due to muscle weakness	5428	POLG	OMIM:258450
HP:0002747	Respiratory insufficiency due to muscle weakness	1134	CHRNA1	OMIM:608930
HP:0002747	Respiratory insufficiency due to muscle weakness	4703	NEB	OMIM:256030
HP:0002747	Respiratory insufficiency due to muscle weakness	4703	NEB	ORPHA:171439
HP:0002747	Respiratory insufficiency due to muscle weakness	274	BIN1	ORPHA:169189
HP:0002747	Respiratory insufficiency due to muscle weakness	274	BIN1	OMIM:255200
HP:0002747	Respiratory insufficiency due to muscle weakness	64419	MTMR14	ORPHA:169189
HP:0002747	Respiratory insufficiency due to muscle weakness	4618	MYF6	ORPHA:169189
HP:0002747	Respiratory insufficiency due to muscle weakness	1785	DNM2	ORPHA:169189
HP:0002747	Respiratory insufficiency due to muscle weakness	6261	RYR1	ORPHA:169189
HP:0002747	Respiratory insufficiency due to muscle weakness	6261	RYR1	ORPHA:424107
HP:0002747	Respiratory insufficiency due to muscle weakness	6261	RYR1	ORPHA:597
HP:0002747	Respiratory insufficiency due to muscle weakness	4568	MT-TL2	ORPHA:663
HP:0002747	Respiratory insufficiency due to muscle weakness	4567	MT-TL1	ORPHA:663
HP:0002747	Respiratory insufficiency due to muscle weakness	7273	TTN	ORPHA:178464
HP:0002747	Respiratory insufficiency due to muscle weakness	22880	MORC2	ORPHA:466768
HP:0002747	Respiratory insufficiency due to muscle weakness	84197	POMK	OMIM:615249
HP:0002747	Respiratory insufficiency due to muscle weakness	427	ASAH1	OMIM:159950
HP:0002747	Respiratory insufficiency due to muscle weakness	427	ASAH1	ORPHA:2590
HP:0002747	Respiratory insufficiency due to muscle weakness	7084	TK2	ORPHA:254875
HP:0002747	Respiratory insufficiency due to muscle weakness	7084	TK2	OMIM:609560
HP:0002747	Respiratory insufficiency due to muscle weakness	1272	CNTN1	OMIM:612540
HP:0002747	Respiratory insufficiency due to muscle weakness	84876	ORAI1	OMIM:612782
HP:0002747	Respiratory insufficiency due to muscle weakness	4358	MPV17	OMIM:256810
HP:0002747	Respiratory insufficiency due to muscle weakness	29967	LRP12	OMIM:164310
HP:0002747	Respiratory insufficiency due to muscle weakness	29967	LRP12	ORPHA:98897
HP:0002747	Respiratory insufficiency due to muscle weakness	80208	SPG11	OMIM:602099
HP:0002747	Respiratory insufficiency due to muscle weakness	4151	MB	OMIM:620286
HP:0002747	Respiratory insufficiency due to muscle weakness	6329	SCN4A	ORPHA:681
HP:0002747	Respiratory insufficiency due to muscle weakness	779	CACNA1S	ORPHA:681
HP:0002747	Respiratory insufficiency due to muscle weakness	10008	KCNE3	ORPHA:681
HP:0002747	Respiratory insufficiency due to muscle weakness	57190	SELENON	ORPHA:2020
HP:0002747	Respiratory insufficiency due to muscle weakness	58	ACTA1	ORPHA:2020
HP:0002747	Respiratory insufficiency due to muscle weakness	58	ACTA1	OMIM:161800
HP:0002747	Respiratory insufficiency due to muscle weakness	58	ACTA1	ORPHA:171439
HP:0002747	Respiratory insufficiency due to muscle weakness	4633	MYL2	ORPHA:2020
HP:0002747	Respiratory insufficiency due to muscle weakness	3679	ITGA7	ORPHA:2020
HP:0002747	Respiratory insufficiency due to muscle weakness	7169	TPM2	ORPHA:2020
HP:0002747	Respiratory insufficiency due to muscle weakness	7169	TPM2	ORPHA:171439
HP:0002747	Respiratory insufficiency due to muscle weakness	9200	HACD1	ORPHA:2020
HP:0002747	Respiratory insufficiency due to muscle weakness	7170	TPM3	ORPHA:2020
HP:0002747	Respiratory insufficiency due to muscle weakness	7170	TPM3	OMIM:255310
HP:0002747	Respiratory insufficiency due to muscle weakness	7170	TPM3	ORPHA:171439
HP:0002747	Respiratory insufficiency due to muscle weakness	51776	MAP3K20	ORPHA:2020
HP:0002747	Respiratory insufficiency due to muscle weakness	7317	UBA1	OMIM:301830
HP:0002747	Respiratory insufficiency due to muscle weakness	127833	SYT2	OMIM:619461
HP:0002747	Respiratory insufficiency due to muscle weakness	57449	PLEKHG5	OMIM:611067
HP:0002747	Respiratory insufficiency due to muscle weakness	4632	MYL1	OMIM:618414
HP:0002747	Respiratory insufficiency due to muscle weakness	353116	RILPL1	ORPHA:98897
HP:0002747	Respiratory insufficiency due to muscle weakness	10755	GIPC1	ORPHA:98897
HP:0002747	Respiratory insufficiency due to muscle weakness	100996717	NOTCH2NLC	ORPHA:98897
HP:0002747	Respiratory insufficiency due to muscle weakness	9997	SCO2	OMIM:604377
HP:0002747	Respiratory insufficiency due to muscle weakness	1103	CHAT	OMIM:254210
HP:0002747	Respiratory insufficiency due to muscle weakness	2548	GAA	OMIM:232300
HP:0002747	Respiratory insufficiency due to muscle weakness	2548	GAA	ORPHA:308552
HP:0002747	Respiratory insufficiency due to muscle weakness	2318	FLNC	ORPHA:63273
HP:0002747	Respiratory insufficiency due to muscle weakness	92667	MGME1	ORPHA:352447
HP:0002747	Respiratory insufficiency due to muscle weakness	9325	TRIP4	OMIM:617066
HP:0002747	Respiratory insufficiency due to muscle weakness	9325	TRIP4	ORPHA:486815
HP:0002747	Respiratory insufficiency due to muscle weakness	291	SLC25A4	OMIM:617184
HP:0002747	Respiratory insufficiency due to muscle weakness	1674	DES	OMIM:601419
HP:0002747	Respiratory insufficiency due to muscle weakness	1674	DES	ORPHA:98909
HP:0002747	Respiratory insufficiency due to muscle weakness	23287	AGTPBP1	OMIM:618276
HP:0002747	Respiratory insufficiency due to muscle weakness	2273	FHL1	OMIM:300718
HP:0002747	Respiratory insufficiency due to muscle weakness	2273	FHL1	OMIM:300717
HP:0002747	Respiratory insufficiency due to muscle weakness	2273	FHL1	ORPHA:98863
HP:0002747	Respiratory insufficiency due to muscle weakness	51244	CCDC174	OMIM:616816
HP:0002747	Respiratory insufficiency due to muscle weakness	8292	COLQ	OMIM:603034
HP:0002747	Respiratory insufficiency due to muscle weakness	51	ACOX1	OMIM:618960
HP:0002747	Respiratory insufficiency due to muscle weakness	2733	GLE1	OMIM:611890
HP:0002747	Respiratory insufficiency due to muscle weakness	23435	TARDBP	OMIM:612069
HP:0002747	Respiratory insufficiency due to muscle weakness	84665	MYPN	ORPHA:171439
HP:0002747	Respiratory insufficiency due to muscle weakness	390594	KBTBD13	ORPHA:171439
HP:0002747	Respiratory insufficiency due to muscle weakness	10324	KLHL41	ORPHA:171439
HP:0002747	Respiratory insufficiency due to muscle weakness	55681	SCYL2	ORPHA:1143
HP:0002747	Respiratory insufficiency due to muscle weakness	84570	COL25A1	ORPHA:1143
HP:0002747	Respiratory insufficiency due to muscle weakness	57222	ERGIC1	ORPHA:1143
HP:0002747	Respiratory insufficiency due to muscle weakness	1073	CFL2	OMIM:610687
HP:0002747	Respiratory insufficiency due to muscle weakness	7138	TNNT1	ORPHA:98902
HP:0002747	Respiratory insufficiency due to muscle weakness	2010	EMD	ORPHA:98863
HP:0002747	Respiratory insufficiency due to muscle weakness	23299	BICD2	OMIM:618291
HP:0002747	Respiratory insufficiency due to muscle weakness	23676	SMPX	OMIM:301075
HP:0002747	Respiratory insufficiency due to muscle weakness	3908	LAMA2	OMIM:607855
HP:0002747	Respiratory insufficiency due to muscle weakness	9927	MFN2	OMIM:617087
HP:0002747	Respiratory insufficiency due to muscle weakness	8803	SUCLA2	OMIM:612073
HP:0002747	Respiratory insufficiency due to muscle weakness	51067	YARS2	OMIM:613561
HP:0002747	Respiratory insufficiency due to muscle weakness	9131	AIFM1	OMIM:300816
HP:0002747	Respiratory insufficiency due to muscle weakness	5081	PAX7	OMIM:618578
HP:0002747	Respiratory insufficiency due to muscle weakness	8291	DYSF	ORPHA:45448
HP:0002747	Respiratory insufficiency due to muscle weakness	4000	LMNA	OMIM:613205
HP:0002747	Respiratory insufficiency due to muscle weakness	4000	LMNA	ORPHA:98853
HP:0002747	Respiratory insufficiency due to muscle weakness	23534	TNPO3	OMIM:608423
HP:0002747	Respiratory insufficiency due to muscle weakness	3156	HMGCR	OMIM:620375
HP:0002747	Respiratory insufficiency due to muscle weakness	285489	DOK7	OMIM:254300
HP:0002747	Respiratory insufficiency due to muscle weakness	54808	DYM	ORPHA:239
HP:0002747	Respiratory insufficiency due to muscle weakness	79188	TMEM43	ORPHA:98853
HP:0002747	Respiratory insufficiency due to muscle weakness	23345	SYNE1	ORPHA:98853
HP:0002747	Respiratory insufficiency due to muscle weakness	23224	SYNE2	ORPHA:98853
HP:0002747	Respiratory insufficiency due to muscle weakness	4625	MYH7	ORPHA:324604
HP:0002747	Respiratory insufficiency due to muscle weakness	60482	SLC5A7	ORPHA:98914
HP:0002747	Respiratory insufficiency due to muscle weakness	4649	MYO9A	ORPHA:98914
HP:0002747	Respiratory insufficiency due to muscle weakness	1305	COL13A1	ORPHA:98914
HP:0002747	Respiratory insufficiency due to muscle weakness	6576	SLC25A1	ORPHA:98914
HP:0002747	Respiratory insufficiency due to muscle weakness	6843	VAMP1	ORPHA:98914
HP:0002747	Respiratory insufficiency due to muscle weakness	375790	AGRN	ORPHA:98914
HP:0002747	Respiratory insufficiency due to muscle weakness	6572	SLC18A3	ORPHA:98914
HP:0002747	Respiratory insufficiency due to muscle weakness	6616	SNAP25	ORPHA:98914
HP:0002748	Rickets	1497	CTNS	OMIM:219800
HP:0002748	Rickets	1497	CTNS	ORPHA:411629
HP:0002748	Rickets	1497	CTNS	OMIM:219900
HP:0002748	Rickets	80270	HSD3B7	OMIM:607765
HP:0002748	Rickets	538	ATP7A	ORPHA:198
HP:0002748	Rickets	5251	PHEX	ORPHA:89936
HP:0002748	Rickets	5251	PHEX	OMIM:307800
HP:0002748	Rickets	8074	FGF23	ORPHA:89937
HP:0002748	Rickets	8074	FGF23	OMIM:193100
HP:0002748	Rickets	1184	CLCN5	OMIM:300554
HP:0002748	Rickets	1184	CLCN5	OMIM:300009
HP:0002748	Rickets	6521	SLC4A1	OMIM:611590
HP:0002748	Rickets	142680	SLC34A3	OMIM:241530
HP:0002748	Rickets	1594	CYP27B1	ORPHA:289157
HP:0002748	Rickets	1594	CYP27B1	OMIM:264700
HP:0002748	Rickets	120227	CYP2R1	ORPHA:289157
HP:0002748	Rickets	120227	CYP2R1	OMIM:600081
HP:0002748	Rickets	570	BAAT	OMIM:619232
HP:0002748	Rickets	249	ALPL	OMIM:146300
HP:0002748	Rickets	5205	ATP8B1	OMIM:211600
HP:0002748	Rickets	10056	FARSB	OMIM:613658
HP:0002748	Rickets	4952	OCRL	OMIM:309000
HP:0002748	Rickets	6718	AKR1D1	ORPHA:79303
HP:0002748	Rickets	6514	SLC2A2	OMIM:227810
HP:0002748	Rickets	6514	SLC2A2	ORPHA:2088
HP:0002748	Rickets	2628	GATM	OMIM:134600
HP:0002748	Rickets	6569	SLC34A1	OMIM:613388
HP:0002748	Rickets	10686	CLDN16	OMIM:248250
HP:0002748	Rickets	1962	EHHADH	OMIM:615605
HP:0002748	Rickets	9414	TJP2	OMIM:607748
HP:0002748	Rickets	50484	RRM2B	OMIM:268315
HP:0002748	Rickets	100151683	RNU4ATAC	ORPHA:2636
HP:0002748	Rickets	3172	HNF4A	OMIM:616026
HP:0002748	Rickets	3117	HLA-DQA1	OMIM:212750
HP:0002748	Rickets	3119	HLA-DQB1	OMIM:212750
HP:0002748	Rickets	9719	ADAMTSL2	ORPHA:1901
HP:0002748	Rickets	9509	ADAMTS2	ORPHA:1901
HP:0002748	Rickets	50617	ATP6V0A4	OMIM:602722
HP:0002748	Rickets	1758	DMP1	OMIM:241520
HP:0002748	Rickets	7421	VDR	OMIM:277440
HP:0002748	Rickets	5442	POLRMT	OMIM:619743
HP:0002748	Rickets	368	ABCC6	OMIM:614473
HP:0002748	Rickets	368	ABCC6	ORPHA:51608
HP:0002748	Rickets	5167	ENPP1	ORPHA:289176
HP:0002748	Rickets	5167	ENPP1	ORPHA:51608
HP:0002748	Rickets	5167	ENPP1	OMIM:208000
HP:0002748	Rickets	5167	ENPP1	OMIM:613312
HP:0002748	Rickets	137682	NDUFAF6	OMIM:618913
HP:0002748	Rickets	137682	NDUFAF6	ORPHA:3337
HP:0002748	Rickets	4665	NAB2	ORPHA:2126
HP:0002748	Rickets	6778	STAT6	ORPHA:2126
HP:0002748	Rickets	6660	SOX5	ORPHA:626
HP:0002748	Rickets	238	ALK	ORPHA:626
HP:0002748	Rickets	9839	ZEB2	ORPHA:626
HP:0002748	Rickets	4893	NRAS	ORPHA:626
HP:0002748	Rickets	4893	NRAS	OMIM:163200
HP:0002748	Rickets	673	BRAF	ORPHA:626
HP:0002748	Rickets	5894	RAF1	ORPHA:626
HP:0002748	Rickets	2184	FAH	OMIM:276700
HP:0002748	Rickets	3845	KRAS	OMIM:163200
HP:0002748	Rickets	3265	HRAS	OMIM:163200
HP:0002748	Rickets	3265	HRAS	ORPHA:2874
HP:0002749	Osteomalacia	5251	PHEX	OMIM:307800
HP:0002749	Osteomalacia	7421	VDR	ORPHA:93160
HP:0002749	Osteomalacia	538	ATP7A	ORPHA:198
HP:0002749	Osteomalacia	8074	FGF23	ORPHA:89937
HP:0002749	Osteomalacia	8074	FGF23	OMIM:193100
HP:0002749	Osteomalacia	142680	SLC34A3	ORPHA:157215
HP:0002749	Osteomalacia	6569	SLC34A1	ORPHA:157215
HP:0002749	Osteomalacia	6569	SLC34A1	OMIM:613388
HP:0002749	Osteomalacia	6569	SLC34A1	ORPHA:3337
HP:0002749	Osteomalacia	1184	CLCN5	OMIM:300554
HP:0002749	Osteomalacia	1184	CLCN5	OMIM:300009
HP:0002749	Osteomalacia	1758	DMP1	ORPHA:289176
HP:0002749	Osteomalacia	5167	ENPP1	ORPHA:289176
HP:0002749	Osteomalacia	5167	ENPP1	ORPHA:51608
HP:0002749	Osteomalacia	6521	SLC4A1	OMIM:179800
HP:0002749	Osteomalacia	368	ABCC6	ORPHA:51608
HP:0002749	Osteomalacia	1594	CYP27B1	ORPHA:289157
HP:0002749	Osteomalacia	120227	CYP2R1	ORPHA:289157
HP:0002749	Osteomalacia	249	ALPL	OMIM:146300
HP:0002749	Osteomalacia	100151683	RNU4ATAC	ORPHA:2636
HP:0002749	Osteomalacia	118429	ANTXR2	ORPHA:2176
HP:0002749	Osteomalacia	9719	ADAMTSL2	ORPHA:1901
HP:0002749	Osteomalacia	9509	ADAMTS2	ORPHA:1901
HP:0002749	Osteomalacia	4952	OCRL	OMIM:309000
HP:0002749	Osteomalacia	4952	OCRL	ORPHA:534
HP:0002749	Osteomalacia	2778	GNAS	ORPHA:562
HP:0002749	Osteomalacia	6850	SYK	OMIM:619381
HP:0002749	Osteomalacia	1175	AP2S1	OMIM:600740
HP:0002749	Osteomalacia	6514	SLC2A2	OMIM:227810
HP:0002749	Osteomalacia	2628	GATM	OMIM:134600
HP:0002749	Osteomalacia	2628	GATM	ORPHA:3337
HP:0002749	Osteomalacia	540	ATP7B	OMIM:277900
HP:0002749	Osteomalacia	1962	EHHADH	ORPHA:3337
HP:0002749	Osteomalacia	137682	NDUFAF6	ORPHA:3337
HP:0041159	Fractured rib	3930	LBR	OMIM:215140
HP:0041159	Fractured rib	55503	TRPV6	OMIM:618188
HP:0002750	Delayed skeletal maturation	2137	EXTL3	ORPHA:508533
HP:0002750	Delayed skeletal maturation	1497	CTNS	OMIM:219800
HP:0002750	Delayed skeletal maturation	1497	CTNS	ORPHA:411634
HP:0002750	Delayed skeletal maturation	2304	FOXE1	OMIM:241850
HP:0002750	Delayed skeletal maturation	83932	SPRTN	OMIM:616200
HP:0002750	Delayed skeletal maturation	1763	DNA2	OMIM:620819
HP:0002750	Delayed skeletal maturation	1763	DNA2	ORPHA:808
HP:0002750	Delayed skeletal maturation	4204	MECP2	ORPHA:1762
HP:0002750	Delayed skeletal maturation	2972	BRF1	OMIM:616202
HP:0002750	Delayed skeletal maturation	2972	BRF1	ORPHA:444072
HP:0002750	Delayed skeletal maturation	6777	STAT5B	OMIM:618985
HP:0002750	Delayed skeletal maturation	9820	CUL7	ORPHA:2616
HP:0002750	Delayed skeletal maturation	9820	CUL7	OMIM:273750
HP:0002750	Delayed skeletal maturation	23363	OBSL1	ORPHA:2616
HP:0002750	Delayed skeletal maturation	23363	OBSL1	OMIM:612921
HP:0002750	Delayed skeletal maturation	83987	CCDC8	ORPHA:2616
HP:0002750	Delayed skeletal maturation	10973	ASCC3	OMIM:620700
HP:0002750	Delayed skeletal maturation	64682	ANAPC1	OMIM:618625
HP:0002750	Delayed skeletal maturation	64682	ANAPC1	ORPHA:221008
HP:0002750	Delayed skeletal maturation	4047	LSS	ORPHA:2850
HP:0002750	Delayed skeletal maturation	197	AHSG	ORPHA:2850
HP:0002750	Delayed skeletal maturation	3694	ITGB6	ORPHA:2850
HP:0002750	Delayed skeletal maturation	91147	TMEM67	OMIM:602152
HP:0002750	Delayed skeletal maturation	91147	TMEM67	ORPHA:140976
HP:0002750	Delayed skeletal maturation	3481	IGF2	ORPHA:231140
HP:0002750	Delayed skeletal maturation	3481	IGF2	ORPHA:231144
HP:0002750	Delayed skeletal maturation	3481	IGF2	OMIM:616489
HP:0002750	Delayed skeletal maturation	3481	IGF2	OMIM:180860
HP:0002750	Delayed skeletal maturation	283120	H19	ORPHA:231140
HP:0002750	Delayed skeletal maturation	283120	H19	ORPHA:231144
HP:0002750	Delayed skeletal maturation	7849	PAX8	OMIM:218700
HP:0002750	Delayed skeletal maturation	197131	UBR1	OMIM:243800
HP:0002750	Delayed skeletal maturation	197131	UBR1	ORPHA:2315
HP:0002750	Delayed skeletal maturation	2099	ESR1	OMIM:615363
HP:0002750	Delayed skeletal maturation	1528	CYB5A	ORPHA:90796
HP:0002750	Delayed skeletal maturation	1586	CYP17A1	ORPHA:90796
HP:0002750	Delayed skeletal maturation	1586	CYP17A1	ORPHA:90793
HP:0002750	Delayed skeletal maturation	10908	PNPLA6	OMIM:275400
HP:0002750	Delayed skeletal maturation	10908	PNPLA6	ORPHA:3363
HP:0002750	Delayed skeletal maturation	3764	KCNJ8	ORPHA:1517
HP:0002750	Delayed skeletal maturation	10060	ABCC9	ORPHA:1517
HP:0002750	Delayed skeletal maturation	10060	ABCC9	OMIM:239850
HP:0002750	Delayed skeletal maturation	55768	NGLY1	ORPHA:404454
HP:0002750	Delayed skeletal maturation	5189	PEX1	OMIM:214100
HP:0002750	Delayed skeletal maturation	5189	PEX1	ORPHA:3220
HP:0002750	Delayed skeletal maturation	7252	TSHB	ORPHA:90674
HP:0002750	Delayed skeletal maturation	6023	RMRP	ORPHA:175
HP:0002750	Delayed skeletal maturation	55154	MSTO1	OMIM:617675
HP:0002750	Delayed skeletal maturation	55154	MSTO1	ORPHA:502423
HP:0002750	Delayed skeletal maturation	6884	TAF13	OMIM:617432
HP:0002750	Delayed skeletal maturation	2688	GH1	OMIM:262650
HP:0002750	Delayed skeletal maturation	2688	GH1	OMIM:612781
HP:0002750	Delayed skeletal maturation	9469	CHST3	OMIM:143095
HP:0002750	Delayed skeletal maturation	9469	CHST3	OMIM:245600
HP:0002750	Delayed skeletal maturation	55366	LGR4	OMIM:619613
HP:0002750	Delayed skeletal maturation	5832	ALDH18A1	OMIM:601162
HP:0002750	Delayed skeletal maturation	5832	ALDH18A1	OMIM:219150
HP:0002750	Delayed skeletal maturation	5566	PRKACA	ORPHA:289
HP:0002750	Delayed skeletal maturation	5567	PRKACB	ORPHA:289
HP:0002750	Delayed skeletal maturation	2735	GLI1	ORPHA:289
HP:0002750	Delayed skeletal maturation	2121	EVC	ORPHA:289
HP:0002750	Delayed skeletal maturation	51626	DYNC2LI1	ORPHA:289
HP:0002750	Delayed skeletal maturation	132884	EVC2	ORPHA:289
HP:0002750	Delayed skeletal maturation	10815	CPLX1	ORPHA:280
HP:0002750	Delayed skeletal maturation	10815	CPLX1	OMIM:194190
HP:0002750	Delayed skeletal maturation	54872	PIGG	ORPHA:280
HP:0002750	Delayed skeletal maturation	7469	NELFA	ORPHA:280
HP:0002750	Delayed skeletal maturation	1487	CTBP1	ORPHA:280
HP:0002750	Delayed skeletal maturation	1487	CTBP1	OMIM:194190
HP:0002750	Delayed skeletal maturation	3954	LETM1	ORPHA:280
HP:0002750	Delayed skeletal maturation	3954	LETM1	OMIM:194190
HP:0002750	Delayed skeletal maturation	7468	NSD2	ORPHA:280
HP:0002750	Delayed skeletal maturation	7468	NSD2	OMIM:194190
HP:0002750	Delayed skeletal maturation	4297	KMT2A	ORPHA:319182
HP:0002750	Delayed skeletal maturation	4297	KMT2A	OMIM:605130
HP:0002750	Delayed skeletal maturation	8036	SHOC2	ORPHA:2701
HP:0002750	Delayed skeletal maturation	5500	PPP1CB	ORPHA:2701
HP:0002750	Delayed skeletal maturation	5500	PPP1CB	OMIM:617506
HP:0002750	Delayed skeletal maturation	1280	COL2A1	OMIM:150600
HP:0002750	Delayed skeletal maturation	1280	COL2A1	ORPHA:85198
HP:0002750	Delayed skeletal maturation	1280	COL2A1	ORPHA:2380
HP:0002750	Delayed skeletal maturation	55012	PPP2R3C	OMIM:618419
HP:0002750	Delayed skeletal maturation	93627	TBCK	ORPHA:488632
HP:0002750	Delayed skeletal maturation	93627	TBCK	OMIM:616900
HP:0002750	Delayed skeletal maturation	267010	RNU12	ORPHA:85199
HP:0002750	Delayed skeletal maturation	26057	ANKRD17	OMIM:619504
HP:0002750	Delayed skeletal maturation	59341	TRPV4	OMIM:606835
HP:0002750	Delayed skeletal maturation	59341	TRPV4	OMIM:156530
HP:0002750	Delayed skeletal maturation	59341	TRPV4	OMIM:184252
HP:0002750	Delayed skeletal maturation	3981	LIG4	ORPHA:235
HP:0002750	Delayed skeletal maturation	54888	NSUN2	ORPHA:235
HP:0002750	Delayed skeletal maturation	4322	MMP13	OMIM:602111
HP:0002750	Delayed skeletal maturation	4322	MMP13	ORPHA:2501
HP:0002750	Delayed skeletal maturation	55131	RBM28	ORPHA:157954
HP:0002750	Delayed skeletal maturation	9056	SLC7A7	ORPHA:470
HP:0002750	Delayed skeletal maturation	9056	SLC7A7	OMIM:222700
HP:0002750	Delayed skeletal maturation	6772	STAT1	ORPHA:391487
HP:0002750	Delayed skeletal maturation	402381	SOHLH1	OMIM:617690
HP:0002750	Delayed skeletal maturation	6905	TBCE	OMIM:241410
HP:0002750	Delayed skeletal maturation	6905	TBCE	OMIM:244460
HP:0002750	Delayed skeletal maturation	6905	TBCE	ORPHA:2323
HP:0002750	Delayed skeletal maturation	6905	TBCE	ORPHA:93324
HP:0002750	Delayed skeletal maturation	51604	PIGT	OMIM:615398
HP:0002750	Delayed skeletal maturation	51604	PIGT	ORPHA:369837
HP:0002750	Delayed skeletal maturation	2200	FBN1	OMIM:614185
HP:0002750	Delayed skeletal maturation	2200	FBN1	ORPHA:969
HP:0002750	Delayed skeletal maturation	2200	FBN1	OMIM:608328
HP:0002750	Delayed skeletal maturation	2200	FBN1	ORPHA:3449
HP:0002750	Delayed skeletal maturation	2200	FBN1	OMIM:102370
HP:0002750	Delayed skeletal maturation	5593	PRKG2	OMIM:619638
HP:0002750	Delayed skeletal maturation	148867	SLC30A7	OMIM:620501
HP:0002750	Delayed skeletal maturation	5728	PTEN	ORPHA:109
HP:0002750	Delayed skeletal maturation	93986	FOXP2	ORPHA:251061
HP:0002750	Delayed skeletal maturation	4882	NPR2	OMIM:616255
HP:0002750	Delayed skeletal maturation	11261	CHP1	OMIM:618438
HP:0002750	Delayed skeletal maturation	90	ACVR1	ORPHA:337
HP:0002750	Delayed skeletal maturation	5286	PIK3C2A	OMIM:618440
HP:0002750	Delayed skeletal maturation	5286	PIK3C2A	ORPHA:557003
HP:0002750	Delayed skeletal maturation	84168	ANTXR1	OMIM:230740
HP:0002750	Delayed skeletal maturation	84168	ANTXR1	ORPHA:2067
HP:0002750	Delayed skeletal maturation	25836	NIPBL	OMIM:122470
HP:0002750	Delayed skeletal maturation	25836	NIPBL	ORPHA:199
HP:0002750	Delayed skeletal maturation	404672	GTF2H5	ORPHA:33364
HP:0002750	Delayed skeletal maturation	833	CARS1	ORPHA:33364
HP:0002750	Delayed skeletal maturation	2068	ERCC2	ORPHA:33364
HP:0002750	Delayed skeletal maturation	2068	ERCC2	ORPHA:910
HP:0002750	Delayed skeletal maturation	7737	RNF113A	ORPHA:33364
HP:0002750	Delayed skeletal maturation	136647	MPLKIP	ORPHA:33364
HP:0002750	Delayed skeletal maturation	6897	TARS1	ORPHA:33364
HP:0002750	Delayed skeletal maturation	16	AARS1	ORPHA:33364
HP:0002750	Delayed skeletal maturation	2071	ERCC3	ORPHA:33364
HP:0002750	Delayed skeletal maturation	2071	ERCC3	ORPHA:910
HP:0002750	Delayed skeletal maturation	2961	GTF2E2	ORPHA:33364
HP:0002750	Delayed skeletal maturation	2961	GTF2E2	OMIM:616943
HP:0002750	Delayed skeletal maturation	3339	HSPG2	OMIM:255800
HP:0002750	Delayed skeletal maturation	3339	HSPG2	ORPHA:800
HP:0002750	Delayed skeletal maturation	2317	FLNB	OMIM:272460
HP:0002750	Delayed skeletal maturation	100151683	RNU4ATAC	ORPHA:1824
HP:0002750	Delayed skeletal maturation	100151683	RNU4ATAC	OMIM:210710
HP:0002750	Delayed skeletal maturation	100151683	RNU4ATAC	ORPHA:2636
HP:0002750	Delayed skeletal maturation	29893	PSMC3IP	ORPHA:243
HP:0002750	Delayed skeletal maturation	171568	POLR3H	ORPHA:243
HP:0002750	Delayed skeletal maturation	2516	NR5A1	ORPHA:243
HP:0002750	Delayed skeletal maturation	2516	NR5A1	ORPHA:251510
HP:0002750	Delayed skeletal maturation	125150	ZSWIM7	ORPHA:243
HP:0002750	Delayed skeletal maturation	9210	BMP15	ORPHA:243
HP:0002750	Delayed skeletal maturation	57122	NUP107	ORPHA:243
HP:0002750	Delayed skeletal maturation	23514	SPIDR	ORPHA:243
HP:0002750	Delayed skeletal maturation	23514	SPIDR	OMIM:619665
HP:0002750	Delayed skeletal maturation	2492	FSHR	ORPHA:243
HP:0002750	Delayed skeletal maturation	56945	MRPS22	ORPHA:243
HP:0002750	Delayed skeletal maturation	56945	MRPS22	OMIM:618117
HP:0002750	Delayed skeletal maturation	646	BNC1	ORPHA:243
HP:0002750	Delayed skeletal maturation	4438	MSH4	ORPHA:243
HP:0002750	Delayed skeletal maturation	6595	SMARCA2	OMIM:601358
HP:0002750	Delayed skeletal maturation	6595	SMARCA2	ORPHA:3051
HP:0002750	Delayed skeletal maturation	6595	SMARCA2	OMIM:619293
HP:0002750	Delayed skeletal maturation	2629	GBA1	ORPHA:77261
HP:0002750	Delayed skeletal maturation	2629	GBA1	ORPHA:77259
HP:0002750	Delayed skeletal maturation	4509	MT-ATP8	ORPHA:480
HP:0002750	Delayed skeletal maturation	4567	MT-TL1	ORPHA:480
HP:0002750	Delayed skeletal maturation	50484	RRM2B	ORPHA:480
HP:0002750	Delayed skeletal maturation	7201	TRHR	OMIM:618573
HP:0002750	Delayed skeletal maturation	7201	TRHR	ORPHA:99832
HP:0002750	Delayed skeletal maturation	7068	THRB	ORPHA:566243
HP:0002750	Delayed skeletal maturation	7227	TRPS1	OMIM:190350
HP:0002750	Delayed skeletal maturation	7227	TRPS1	OMIM:190351
HP:0002750	Delayed skeletal maturation	7227	TRPS1	ORPHA:502
HP:0002750	Delayed skeletal maturation	6654	SOS1	OMIM:610733
HP:0002750	Delayed skeletal maturation	6654	SOS1	ORPHA:648
HP:0002750	Delayed skeletal maturation	2260	FGFR1	ORPHA:478
HP:0002750	Delayed skeletal maturation	2260	FGFR1	ORPHA:432
HP:0002750	Delayed skeletal maturation	2260	FGFR1	ORPHA:2645
HP:0002750	Delayed skeletal maturation	10371	SEMA3A	ORPHA:478
HP:0002750	Delayed skeletal maturation	81848	SPRY4	ORPHA:478
HP:0002750	Delayed skeletal maturation	81848	SPRY4	ORPHA:432
HP:0002750	Delayed skeletal maturation	23767	FLRT3	ORPHA:478
HP:0002750	Delayed skeletal maturation	128674	PROKR2	ORPHA:478
HP:0002750	Delayed skeletal maturation	128674	PROKR2	ORPHA:432
HP:0002750	Delayed skeletal maturation	79625	NDNF	ORPHA:478
HP:0002750	Delayed skeletal maturation	2253	FGF8	ORPHA:478
HP:0002750	Delayed skeletal maturation	2253	FGF8	ORPHA:432
HP:0002750	Delayed skeletal maturation	2253	FGF8	OMIM:612702
HP:0002750	Delayed skeletal maturation	389549	FEZF1	ORPHA:478
HP:0002750	Delayed skeletal maturation	1630	DCC	ORPHA:478
HP:0002750	Delayed skeletal maturation	1630	DCC	ORPHA:2744
HP:0002750	Delayed skeletal maturation	3730	ANOS1	ORPHA:478
HP:0002750	Delayed skeletal maturation	54756	IL17RD	ORPHA:478
HP:0002750	Delayed skeletal maturation	6663	SOX10	ORPHA:478
HP:0002750	Delayed skeletal maturation	285025	CCDC141	ORPHA:478
HP:0002750	Delayed skeletal maturation	60675	PROK2	ORPHA:478
HP:0002750	Delayed skeletal maturation	60675	PROK2	ORPHA:432
HP:0002750	Delayed skeletal maturation	55636	CHD7	ORPHA:478
HP:0002750	Delayed skeletal maturation	55636	CHD7	ORPHA:432
HP:0002750	Delayed skeletal maturation	1848	DUSP6	ORPHA:478
HP:0002750	Delayed skeletal maturation	1848	DUSP6	ORPHA:432
HP:0002750	Delayed skeletal maturation	6870	TACR3	ORPHA:478
HP:0002750	Delayed skeletal maturation	6870	TACR3	ORPHA:432
HP:0002750	Delayed skeletal maturation	55717	WDR11	ORPHA:478
HP:0002750	Delayed skeletal maturation	55717	WDR11	ORPHA:432
HP:0002750	Delayed skeletal maturation	55717	WDR11	OMIM:620237
HP:0002750	Delayed skeletal maturation	9394	HS6ST1	ORPHA:478
HP:0002750	Delayed skeletal maturation	9394	HS6ST1	ORPHA:432
HP:0002750	Delayed skeletal maturation	8820	HESX1	ORPHA:478
HP:0002750	Delayed skeletal maturation	8820	HESX1	ORPHA:95494
HP:0002750	Delayed skeletal maturation	8822	FGF17	ORPHA:478
HP:0002750	Delayed skeletal maturation	8822	FGF17	ORPHA:432
HP:0002750	Delayed skeletal maturation	5626	PROP1	ORPHA:90695
HP:0002750	Delayed skeletal maturation	5626	PROP1	ORPHA:95494
HP:0002750	Delayed skeletal maturation	6658	SOX3	ORPHA:90695
HP:0002750	Delayed skeletal maturation	6658	SOX3	ORPHA:67045
HP:0002750	Delayed skeletal maturation	950	SCARB2	ORPHA:77259
HP:0002750	Delayed skeletal maturation	3480	IGF1R	ORPHA:73273
HP:0002750	Delayed skeletal maturation	3480	IGF1R	OMIM:270450
HP:0002750	Delayed skeletal maturation	3479	IGF1	ORPHA:73272
HP:0002750	Delayed skeletal maturation	3479	IGF1	OMIM:608747
HP:0002750	Delayed skeletal maturation	9361	LONP1	OMIM:600373
HP:0002750	Delayed skeletal maturation	9361	LONP1	ORPHA:1458
HP:0002750	Delayed skeletal maturation	26012	NSMF	ORPHA:432
HP:0002750	Delayed skeletal maturation	4808	NHLH2	ORPHA:432
HP:0002750	Delayed skeletal maturation	2796	GNRH1	ORPHA:432
HP:0002750	Delayed skeletal maturation	2798	GNRHR	ORPHA:432
HP:0002750	Delayed skeletal maturation	84634	KISS1R	ORPHA:432
HP:0002750	Delayed skeletal maturation	84634	KISS1R	OMIM:614837
HP:0002750	Delayed skeletal maturation	6866	TAC3	ORPHA:432
HP:0002750	Delayed skeletal maturation	3814	KISS1	ORPHA:432
HP:0002750	Delayed skeletal maturation	3814	KISS1	OMIM:614842
HP:0002750	Delayed skeletal maturation	4598	MVK	ORPHA:29
HP:0002750	Delayed skeletal maturation	10785	WDR4	OMIM:618347
HP:0002750	Delayed skeletal maturation	90459	ERI1	OMIM:620663
HP:0002750	Delayed skeletal maturation	90459	ERI1	OMIM:620662
HP:0002750	Delayed skeletal maturation	2690	GHR	ORPHA:314802
HP:0002750	Delayed skeletal maturation	2690	GHR	OMIM:262500
HP:0002750	Delayed skeletal maturation	2690	GHR	ORPHA:633
HP:0002750	Delayed skeletal maturation	4054	LTBP3	OMIM:601216
HP:0002750	Delayed skeletal maturation	4054	LTBP3	ORPHA:969
HP:0002750	Delayed skeletal maturation	4054	LTBP3	OMIM:617809
HP:0002750	Delayed skeletal maturation	1387	CREBBP	ORPHA:353281
HP:0002750	Delayed skeletal maturation	1387	CREBBP	OMIM:180849
HP:0002750	Delayed skeletal maturation	6729	SRP54	OMIM:260400
HP:0002750	Delayed skeletal maturation	51119	SBDS	OMIM:260400
HP:0002750	Delayed skeletal maturation	51119	SBDS	ORPHA:811
HP:0002750	Delayed skeletal maturation	134218	DNAJC21	OMIM:260400
HP:0002750	Delayed skeletal maturation	134218	DNAJC21	ORPHA:811
HP:0002750	Delayed skeletal maturation	79048	SECISBP2	ORPHA:171706
HP:0002750	Delayed skeletal maturation	79048	SECISBP2	OMIM:609698
HP:0002750	Delayed skeletal maturation	10940	POP1	OMIM:617396
HP:0002750	Delayed skeletal maturation	254394	MCM9	OMIM:616185
HP:0002750	Delayed skeletal maturation	3549	IHH	ORPHA:63446
HP:0002750	Delayed skeletal maturation	4998	ORC1	OMIM:224690
HP:0002750	Delayed skeletal maturation	4998	ORC1	ORPHA:2554
HP:0002750	Delayed skeletal maturation	8260	NAA10	OMIM:300855
HP:0002750	Delayed skeletal maturation	8200	GDF5	ORPHA:63442
HP:0002750	Delayed skeletal maturation	8200	GDF5	OMIM:113100
HP:0002750	Delayed skeletal maturation	3643	INSR	OMIM:246200
HP:0002750	Delayed skeletal maturation	3643	INSR	ORPHA:769
HP:0002750	Delayed skeletal maturation	23476	BRD4	OMIM:620568
HP:0002750	Delayed skeletal maturation	23476	BRD4	ORPHA:199
HP:0002750	Delayed skeletal maturation	51608	GET4	OMIM:620200
HP:0002750	Delayed skeletal maturation	3265	HRAS	ORPHA:3071
HP:0002750	Delayed skeletal maturation	7703	PCGF2	OMIM:618371
HP:0002750	Delayed skeletal maturation	11342	RNF13	OMIM:618379
HP:0002750	Delayed skeletal maturation	11342	RNF13	ORPHA:544503
HP:0002750	Delayed skeletal maturation	5000	ORC4	OMIM:613800
HP:0002750	Delayed skeletal maturation	5000	ORC4	ORPHA:2554
HP:0002750	Delayed skeletal maturation	81620	CDT1	OMIM:613804
HP:0002750	Delayed skeletal maturation	81620	CDT1	ORPHA:2554
HP:0002750	Delayed skeletal maturation	23594	ORC6	OMIM:613803
HP:0002750	Delayed skeletal maturation	23594	ORC6	ORPHA:2554
HP:0002750	Delayed skeletal maturation	84701	COX4I2	OMIM:612714
HP:0002750	Delayed skeletal maturation	6874	TAF4	OMIM:620450
HP:0002750	Delayed skeletal maturation	990	CDC6	OMIM:613805
HP:0002750	Delayed skeletal maturation	990	CDC6	ORPHA:2554
HP:0002750	Delayed skeletal maturation	9791	PTDSS1	OMIM:151050
HP:0002750	Delayed skeletal maturation	9791	PTDSS1	ORPHA:2658
HP:0002750	Delayed skeletal maturation	10847	SRCAP	OMIM:619595
HP:0002750	Delayed skeletal maturation	10847	SRCAP	ORPHA:2044
HP:0002750	Delayed skeletal maturation	10847	SRCAP	OMIM:136140
HP:0002750	Delayed skeletal maturation	2033	EP300	OMIM:180849
HP:0002750	Delayed skeletal maturation	4796	TONSL	OMIM:271510
HP:0002750	Delayed skeletal maturation	2131	EXT1	ORPHA:502
HP:0002750	Delayed skeletal maturation	5885	RAD21	ORPHA:502
HP:0002750	Delayed skeletal maturation	5885	RAD21	ORPHA:199
HP:0002750	Delayed skeletal maturation	2887	GRB10	ORPHA:96182
HP:0002750	Delayed skeletal maturation	8567	MADD	OMIM:619004
HP:0002750	Delayed skeletal maturation	374879	ZNF699	OMIM:619488
HP:0002750	Delayed skeletal maturation	2692	GHRHR	OMIM:618157
HP:0002750	Delayed skeletal maturation	22995	CEP152	OMIM:613823
HP:0002750	Delayed skeletal maturation	22995	CEP152	ORPHA:808
HP:0002750	Delayed skeletal maturation	673	BRAF	OMIM:613707
HP:0002750	Delayed skeletal maturation	673	BRAF	OMIM:115150
HP:0002750	Delayed skeletal maturation	55599	RNPC3	OMIM:618160
HP:0002750	Delayed skeletal maturation	2332	FMR1	ORPHA:261483
HP:0002750	Delayed skeletal maturation	84231	TRAF7	OMIM:618164
HP:0002750	Delayed skeletal maturation	7157	TP53	OMIM:618165
HP:0002750	Delayed skeletal maturation	89970	RSPRY1	ORPHA:457395
HP:0002750	Delayed skeletal maturation	89970	RSPRY1	OMIM:616723
HP:0002750	Delayed skeletal maturation	1583	CYP11A1	ORPHA:168558
HP:0002750	Delayed skeletal maturation	1583	CYP11A1	ORPHA:289548
HP:0002750	Delayed skeletal maturation	51594	NBAS	OMIM:614800
HP:0002750	Delayed skeletal maturation	3295	HSD17B4	OMIM:261515
HP:0002750	Delayed skeletal maturation	22800	RRAS2	ORPHA:648
HP:0002750	Delayed skeletal maturation	867	CBL	ORPHA:648
HP:0002750	Delayed skeletal maturation	8216	LZTR1	ORPHA:648
HP:0002750	Delayed skeletal maturation	6016	RIT1	ORPHA:648
HP:0002750	Delayed skeletal maturation	6237	RRAS	ORPHA:648
HP:0002750	Delayed skeletal maturation	5894	RAF1	ORPHA:648
HP:0002750	Delayed skeletal maturation	22808	MRAS	ORPHA:648
HP:0002750	Delayed skeletal maturation	3845	KRAS	ORPHA:648
HP:0002750	Delayed skeletal maturation	3845	KRAS	OMIM:609942
HP:0002750	Delayed skeletal maturation	200734	SPRED2	ORPHA:648
HP:0002750	Delayed skeletal maturation	4893	NRAS	ORPHA:648
HP:0002750	Delayed skeletal maturation	6655	SOS2	ORPHA:648
HP:0002750	Delayed skeletal maturation	5781	PTPN11	ORPHA:648
HP:0002750	Delayed skeletal maturation	5922	RASA2	ORPHA:648
HP:0002750	Delayed skeletal maturation	695	BTK	OMIM:307200
HP:0002750	Delayed skeletal maturation	5498	PPOX	OMIM:620483
HP:0002750	Delayed skeletal maturation	7474	WNT5A	OMIM:180700
HP:0002750	Delayed skeletal maturation	1855	DVL1	OMIM:180700
HP:0002750	Delayed skeletal maturation	64802	NMNAT1	OMIM:619260
HP:0002750	Delayed skeletal maturation	129285	PPP1R21	OMIM:619383
HP:0002750	Delayed skeletal maturation	3735	KARS1	OMIM:619147
HP:0002750	Delayed skeletal maturation	55315	SLC29A3	ORPHA:168569
HP:0002750	Delayed skeletal maturation	2693	GHSR	ORPHA:314811
HP:0002750	Delayed skeletal maturation	2693	GHSR	OMIM:615925
HP:0002750	Delayed skeletal maturation	9131	AIFM1	OMIM:300232
HP:0002750	Delayed skeletal maturation	176	ACAN	OMIM:608361
HP:0002750	Delayed skeletal maturation	4758	NEU1	ORPHA:812
HP:0002750	Delayed skeletal maturation	150468	CKAP2L	ORPHA:3255
HP:0002750	Delayed skeletal maturation	10225	CD96	OMIM:211750
HP:0002750	Delayed skeletal maturation	64324	NSD1	ORPHA:228415
HP:0002750	Delayed skeletal maturation	79631	EFL1	ORPHA:811
HP:0002750	Delayed skeletal maturation	6197	RPS6KA3	OMIM:303600
HP:0002750	Delayed skeletal maturation	6197	RPS6KA3	ORPHA:192
HP:0002750	Delayed skeletal maturation	56992	KIF15	ORPHA:261323
HP:0002750	Delayed skeletal maturation	51360	MBTPS2	ORPHA:2273
HP:0002750	Delayed skeletal maturation	57492	ARID1B	OMIM:135900
HP:0002750	Delayed skeletal maturation	57492	ARID1B	ORPHA:1465
HP:0002750	Delayed skeletal maturation	80204	FBXO11	OMIM:618089
HP:0002750	Delayed skeletal maturation	3483	IGFALS	ORPHA:140941
HP:0002750	Delayed skeletal maturation	8289	ARID1A	OMIM:614607
HP:0002750	Delayed skeletal maturation	8289	ARID1A	ORPHA:1465
HP:0002750	Delayed skeletal maturation	6598	SMARCB1	OMIM:614608
HP:0002750	Delayed skeletal maturation	6598	SMARCB1	ORPHA:1465
HP:0002750	Delayed skeletal maturation	6597	SMARCA4	OMIM:614609
HP:0002750	Delayed skeletal maturation	6597	SMARCA4	ORPHA:1465
HP:0002750	Delayed skeletal maturation	658	BMPR1B	OMIM:609441
HP:0002750	Delayed skeletal maturation	9839	ZEB2	ORPHA:261552
HP:0002750	Delayed skeletal maturation	9839	ZEB2	ORPHA:261537
HP:0002750	Delayed skeletal maturation	1327	COX4I1	OMIM:619060
HP:0002750	Delayed skeletal maturation	6885	MAP3K7	OMIM:157800
HP:0002750	Delayed skeletal maturation	51199	NIN	OMIM:614851
HP:0002750	Delayed skeletal maturation	51199	NIN	ORPHA:319675
HP:0002750	Delayed skeletal maturation	6662	SOX9	ORPHA:251510
HP:0002750	Delayed skeletal maturation	6845	VAMP7	ORPHA:251510
HP:0002750	Delayed skeletal maturation	51741	WWOX	ORPHA:251510
HP:0002750	Delayed skeletal maturation	4214	MAP3K1	ORPHA:251510
HP:0002750	Delayed skeletal maturation	7490	WT1	ORPHA:251510
HP:0002750	Delayed skeletal maturation	57647	DHX37	ORPHA:251510
HP:0002750	Delayed skeletal maturation	6736	SRY	ORPHA:251510
HP:0002750	Delayed skeletal maturation	6736	SRY	ORPHA:1772
HP:0002750	Delayed skeletal maturation	23414	ZFPM2	ORPHA:251510
HP:0002750	Delayed skeletal maturation	190	NR0B1	ORPHA:251510
HP:0002750	Delayed skeletal maturation	2626	GATA4	ORPHA:251510
HP:0002750	Delayed skeletal maturation	1028	CDKN1C	OMIM:614732
HP:0002750	Delayed skeletal maturation	25942	SIN3A	OMIM:613406
HP:0002750	Delayed skeletal maturation	25942	SIN3A	ORPHA:500166
HP:0002750	Delayed skeletal maturation	175	AGA	ORPHA:93
HP:0002750	Delayed skeletal maturation	175	AGA	OMIM:208400
HP:0002750	Delayed skeletal maturation	53834	FGFRL1	OMIM:194190
HP:0002750	Delayed skeletal maturation	5826	ABCD4	OMIM:614857
HP:0002750	Delayed skeletal maturation	2697	GJA1	OMIM:257850
HP:0002750	Delayed skeletal maturation	1588	CYP19A1	ORPHA:91
HP:0002750	Delayed skeletal maturation	1588	CYP19A1	OMIM:613546
HP:0002750	Delayed skeletal maturation	7025	NR2F1	ORPHA:401777
HP:0002750	Delayed skeletal maturation	6804	STX1A	ORPHA:904
HP:0002750	Delayed skeletal maturation	7461	CLIP2	ORPHA:904
HP:0002750	Delayed skeletal maturation	84277	DNAJC30	ORPHA:904
HP:0002750	Delayed skeletal maturation	8468	FKBP6	ORPHA:904
HP:0002750	Delayed skeletal maturation	5982	RFC2	ORPHA:904
HP:0002750	Delayed skeletal maturation	2969	GTF2I	ORPHA:904
HP:0002750	Delayed skeletal maturation	3984	LIMK1	ORPHA:904
HP:0002750	Delayed skeletal maturation	9569	GTF2IRD1	ORPHA:904
HP:0002750	Delayed skeletal maturation	155382	VPS37D	ORPHA:904
HP:0002750	Delayed skeletal maturation	155368	METTL27	ORPHA:904
HP:0002750	Delayed skeletal maturation	114049	BUD23	ORPHA:904
HP:0002750	Delayed skeletal maturation	7458	EIF4H	ORPHA:904
HP:0002750	Delayed skeletal maturation	84163	GTF2IRD2	ORPHA:904
HP:0002750	Delayed skeletal maturation	26608	TBL2	ORPHA:904
HP:0002750	Delayed skeletal maturation	653361	NCF1	ORPHA:904
HP:0002750	Delayed skeletal maturation	135886	TMEM270	ORPHA:904
HP:0002750	Delayed skeletal maturation	9031	BAZ1B	ORPHA:904
HP:0002750	Delayed skeletal maturation	2006	ELN	ORPHA:904
HP:0002750	Delayed skeletal maturation	5190	PEX6	ORPHA:3220
HP:0002750	Delayed skeletal maturation	10056	FARSB	OMIM:613658
HP:0002750	Delayed skeletal maturation	9719	ADAMTSL2	OMIM:231050
HP:0002750	Delayed skeletal maturation	2736	GLI2	ORPHA:95494
HP:0002750	Delayed skeletal maturation	89884	LHX4	ORPHA:95494
HP:0002750	Delayed skeletal maturation	3170	FOXA2	ORPHA:95494
HP:0002750	Delayed skeletal maturation	5449	POU1F1	ORPHA:95494
HP:0002750	Delayed skeletal maturation	5015	OTX2	ORPHA:95494
HP:0002750	Delayed skeletal maturation	4089	SMAD4	OMIM:139210
HP:0002750	Delayed skeletal maturation	5159	PDGFRB	OMIM:601812
HP:0002750	Delayed skeletal maturation	5422	POLA1	ORPHA:163976
HP:0002750	Delayed skeletal maturation	2488	FSHB	OMIM:229070
HP:0002750	Delayed skeletal maturation	2488	FSHB	ORPHA:52901
HP:0002750	Delayed skeletal maturation	84919	PPP1R15B	OMIM:616817
HP:0002750	Delayed skeletal maturation	4920	ROR2	OMIM:268310
HP:0002750	Delayed skeletal maturation	5295	PIK3R1	OMIM:269880
HP:0002750	Delayed skeletal maturation	546	ATRX	OMIM:309580
HP:0002750	Delayed skeletal maturation	170691	ADAMTS17	ORPHA:3449
HP:0002750	Delayed skeletal maturation	4053	LTBP2	ORPHA:3449
HP:0002750	Delayed skeletal maturation	81794	ADAMTS10	ORPHA:3449
HP:0002750	Delayed skeletal maturation	5167	ENPP1	OMIM:613312
HP:0002750	Delayed skeletal maturation	545	ATR	ORPHA:808
HP:0002750	Delayed skeletal maturation	545	ATR	OMIM:210600
HP:0002750	Delayed skeletal maturation	1062	CENPE	ORPHA:808
HP:0002750	Delayed skeletal maturation	5116	PCNT	ORPHA:808
HP:0002750	Delayed skeletal maturation	5116	PCNT	OMIM:210720
HP:0002750	Delayed skeletal maturation	5116	PCNT	ORPHA:2637
HP:0002750	Delayed skeletal maturation	5932	RBBP8	ORPHA:808
HP:0002750	Delayed skeletal maturation	79902	NUP85	ORPHA:808
HP:0002750	Delayed skeletal maturation	84126	ATRIP	ORPHA:808
HP:0002750	Delayed skeletal maturation	10293	TRAIP	ORPHA:808
HP:0002750	Delayed skeletal maturation	10733	PLK4	ORPHA:808
HP:0002750	Delayed skeletal maturation	147372	CCBE1	OMIM:235510
HP:0002750	Delayed skeletal maturation	29123	ANKRD11	OMIM:148050
HP:0002750	Delayed skeletal maturation	29123	ANKRD11	ORPHA:2332
HP:0002750	Delayed skeletal maturation	51025	PAM16	OMIM:613320
HP:0002750	Delayed skeletal maturation	51053	GMNN	OMIM:616835
HP:0002750	Delayed skeletal maturation	51053	GMNN	ORPHA:2554
HP:0002750	Delayed skeletal maturation	6307	MSMO1	OMIM:616834
HP:0002750	Delayed skeletal maturation	55081	IFT57	OMIM:617927
HP:0002750	Delayed skeletal maturation	7507	XPA	ORPHA:910
HP:0002750	Delayed skeletal maturation	7508	XPC	ORPHA:910
HP:0002750	Delayed skeletal maturation	1643	DDB2	ORPHA:910
HP:0002750	Delayed skeletal maturation	2072	ERCC4	ORPHA:910
HP:0002750	Delayed skeletal maturation	2073	ERCC5	ORPHA:910
HP:0002750	Delayed skeletal maturation	10075	HUWE1	OMIM:309590
HP:0002750	Delayed skeletal maturation	9663	LPIN2	OMIM:609628
HP:0002750	Delayed skeletal maturation	2245	FGD1	OMIM:305400
HP:0002750	Delayed skeletal maturation	2879	GPX4	ORPHA:93317
HP:0002750	Delayed skeletal maturation	5122	PCSK1	ORPHA:71528
HP:0002750	Delayed skeletal maturation	5443	POMC	ORPHA:71526
HP:0002750	Delayed skeletal maturation	79796	ALG9	OMIM:608776
HP:0002750	Delayed skeletal maturation	8091	HMGA2	OMIM:618908
HP:0002750	Delayed skeletal maturation	7200	TRH	OMIM:275120
HP:0002750	Delayed skeletal maturation	6609	SMPD1	ORPHA:77293
HP:0002750	Delayed skeletal maturation	6659	SOX4	ORPHA:1465
HP:0002750	Delayed skeletal maturation	5977	DPF2	ORPHA:1465
HP:0002750	Delayed skeletal maturation	6601	SMARCC2	ORPHA:1465
HP:0002750	Delayed skeletal maturation	6602	SMARCD1	ORPHA:1465
HP:0002750	Delayed skeletal maturation	196528	ARID2	ORPHA:1465
HP:0002750	Delayed skeletal maturation	6605	SMARCE1	ORPHA:1465
HP:0002750	Delayed skeletal maturation	6664	SOX11	ORPHA:1465
HP:0002750	Delayed skeletal maturation	2138	EYA1	ORPHA:2792
HP:0002750	Delayed skeletal maturation	5075	PAX1	ORPHA:2792
HP:0002750	Delayed skeletal maturation	3759	KCNJ2	OMIM:170390
HP:0002750	Delayed skeletal maturation	8318	CDC45	ORPHA:2554
HP:0002750	Delayed skeletal maturation	7067	THRA	OMIM:614450
HP:0002750	Delayed skeletal maturation	29980	DONSON	OMIM:617604
HP:0002750	Delayed skeletal maturation	9126	SMC3	ORPHA:199
HP:0002750	Delayed skeletal maturation	8243	SMC1A	ORPHA:199
HP:0002750	Delayed skeletal maturation	6878	TAF6	ORPHA:199
HP:0002750	Delayed skeletal maturation	55869	HDAC8	ORPHA:199
HP:0002750	Delayed skeletal maturation	55325	UFSP2	OMIM:617974
HP:0002750	Delayed skeletal maturation	29957	SLC25A24	OMIM:612289
HP:0002750	Delayed skeletal maturation	9401	RECQL4	ORPHA:221016
HP:0002750	Delayed skeletal maturation	54870	QRICH1	OMIM:617982
HP:0002750	Delayed skeletal maturation	83737	ITCH	OMIM:613385
HP:0002750	Delayed skeletal maturation	9702	CEP57	OMIM:614114
HP:0002750	Delayed skeletal maturation	4780	NFE2L2	OMIM:617744
HP:0002750	Delayed skeletal maturation	5456	POU3F4	ORPHA:1435
HP:0002750	Delayed skeletal maturation	650	BMP2	OMIM:617877
HP:0002750	Delayed skeletal maturation	26229	B3GAT3	OMIM:245600
HP:0002750	Delayed skeletal maturation	23309	SIN3B	ORPHA:500166
HP:0002750	Delayed skeletal maturation	1804	DPP6	OMIM:616311
HP:0002750	Delayed skeletal maturation	7543	ZFX	OMIM:301118
HP:0002750	Delayed skeletal maturation	64221	ROBO3	ORPHA:2744
HP:0002750	Delayed skeletal maturation	10892	MALT1	OMIM:615468
HP:0002750	Delayed skeletal maturation	3636	INPPL1	ORPHA:2746
HP:0002750	Delayed skeletal maturation	63901	FAM111A	ORPHA:93325
HP:0002750	Delayed skeletal maturation	80152	CENPT	OMIM:618702
HP:0002752	Sparse bone trabeculae	7421	VDR	OMIM:277440
HP:0002752	Sparse bone trabeculae	120227	CYP2R1	OMIM:600081
HP:0002752	Sparse bone trabeculae	120227	CYP2R1	ORPHA:289157
HP:0002752	Sparse bone trabeculae	1594	CYP27B1	OMIM:264700
HP:0002752	Sparse bone trabeculae	1594	CYP27B1	ORPHA:289157
HP:0002752	Sparse bone trabeculae	1184	CLCN5	OMIM:300554
HP:0002752	Sparse bone trabeculae	1184	CLCN5	OMIM:300009
HP:0002752	Sparse bone trabeculae	142680	SLC34A3	OMIM:241530
HP:0002753	Thin bony cortex	64132	XYLT2	OMIM:605822
HP:0002753	Thin bony cortex	79879	CCDC134	OMIM:619795
HP:0002753	Thin bony cortex	6424	SFRP4	OMIM:265900
HP:0002753	Thin bony cortex	1184	CLCN5	OMIM:300554
HP:0002753	Thin bony cortex	1184	CLCN5	OMIM:300009
HP:0002753	Thin bony cortex	142680	SLC34A3	OMIM:241530
HP:0002753	Thin bony cortex	1594	CYP27B1	ORPHA:289157
HP:0002753	Thin bony cortex	1594	CYP27B1	OMIM:264700
HP:0002753	Thin bony cortex	120227	CYP2R1	ORPHA:289157
HP:0002753	Thin bony cortex	120227	CYP2R1	OMIM:600081
HP:0002753	Thin bony cortex	5593	PRKG2	OMIM:619638
HP:0002753	Thin bony cortex	55603	TENT5A	OMIM:617952
HP:0002753	Thin bony cortex	56172	ANKH	OMIM:123000
HP:0002753	Thin bony cortex	6611	SMS	OMIM:309583
HP:0002753	Thin bony cortex	2720	GLB1	OMIM:230600
HP:0002753	Thin bony cortex	10056	FARSB	OMIM:613658
HP:0002753	Thin bony cortex	4313	MMP2	OMIM:259600
HP:0002753	Thin bony cortex	5745	PTH1R	ORPHA:79106
HP:0002753	Thin bony cortex	2200	FBN1	OMIM:608328
HP:0002753	Thin bony cortex	5277	PIGA	OMIM:300868
HP:0002753	Thin bony cortex	8792	TNFRSF11A	OMIM:174810
HP:0002753	Thin bony cortex	55151	TMEM38B	OMIM:615066
HP:0002753	Thin bony cortex	7421	VDR	OMIM:277440
HP:0002753	Thin bony cortex	207	AKT1	OMIM:176920
HP:0002753	Thin bony cortex	79639	TMEM53	OMIM:619727
HP:0002753	Thin bony cortex	871	SERPINH1	OMIM:613848
HP:0002753	Thin bony cortex	81794	ADAMTS10	OMIM:277600
HP:0041162	Metatarsal fracture	25923	ATL3	OMIM:615632
HP:0000943	Dysostosis multiplex	84572	GNPTG	OMIM:252605
HP:0000943	Dysostosis multiplex	65082	VPS33A	ORPHA:505248
HP:0000943	Dysostosis multiplex	65082	VPS33A	OMIM:617303
HP:0000943	Dysostosis multiplex	6448	SGSH	OMIM:252900
HP:0000943	Dysostosis multiplex	3423	IDS	OMIM:309900
HP:0000943	Dysostosis multiplex	4125	MAN2B1	OMIM:248500
HP:0000943	Dysostosis multiplex	4125	MAN2B1	ORPHA:309282
HP:0000943	Dysostosis multiplex	2517	FUCA1	OMIM:230000
HP:0000943	Dysostosis multiplex	2517	FUCA1	ORPHA:349
HP:0000943	Dysostosis multiplex	2588	GALNS	OMIM:253000
HP:0000943	Dysostosis multiplex	2990	GUSB	OMIM:253220
HP:0000943	Dysostosis multiplex	2720	GLB1	OMIM:230500
HP:0000943	Dysostosis multiplex	2720	GLB1	OMIM:230600
HP:0000943	Dysostosis multiplex	2720	GLB1	OMIM:253010
HP:0000943	Dysostosis multiplex	2720	GLB1	ORPHA:79255
HP:0000943	Dysostosis multiplex	2260	FGFR1	ORPHA:2396
HP:0000943	Dysostosis multiplex	3845	KRAS	ORPHA:2396
HP:0000943	Dysostosis multiplex	138050	HGSNAT	OMIM:252930
HP:0000943	Dysostosis multiplex	10020	GNE	ORPHA:3166
HP:0000943	Dysostosis multiplex	4758	NEU1	OMIM:256550
HP:0000943	Dysostosis multiplex	4758	NEU1	ORPHA:93399
HP:0000943	Dysostosis multiplex	4758	NEU1	ORPHA:812
HP:0000943	Dysostosis multiplex	4758	NEU1	ORPHA:93400
HP:0000943	Dysostosis multiplex	79158	GNPTAB	ORPHA:423461
HP:0000943	Dysostosis multiplex	79158	GNPTAB	OMIM:252600
HP:0000943	Dysostosis multiplex	285362	SUMF1	OMIM:272200
HP:0000943	Dysostosis multiplex	411	ARSB	OMIM:253200
HP:0000943	Dysostosis multiplex	26175	LYSET	OMIM:619345
HP:0000943	Dysostosis multiplex	175	AGA	OMIM:208400
HP:0000943	Dysostosis multiplex	3425	IDUA	OMIM:607014
HP:0000943	Dysostosis multiplex	3425	IDUA	OMIM:607016
HP:0000943	Dysostosis multiplex	3425	IDUA	OMIM:607015
HP:0000943	Dysostosis multiplex	4669	NAGLU	OMIM:252920
HP:0000943	Dysostosis multiplex	2799	GNS	OMIM:252940
HP:0000943	Dysostosis multiplex	5476	CTSA	OMIM:256540
HP:0002761	Generalized joint hypermobility	1311	COMP	ORPHA:750
HP:0002761	Generalized joint hypermobility	1311	COMP	OMIM:132400
HP:0002761	Generalized joint hypermobility	9361	LONP1	OMIM:600373
HP:0002761	Generalized joint hypermobility	22827	PUF60	ORPHA:508498
HP:0002761	Generalized joint hypermobility	2260	FGFR1	ORPHA:432
HP:0002761	Generalized joint hypermobility	81848	SPRY4	ORPHA:432
HP:0002761	Generalized joint hypermobility	128674	PROKR2	ORPHA:432
HP:0002761	Generalized joint hypermobility	2253	FGF8	ORPHA:432
HP:0002761	Generalized joint hypermobility	60675	PROK2	ORPHA:432
HP:0002761	Generalized joint hypermobility	55636	CHD7	ORPHA:432
HP:0002761	Generalized joint hypermobility	6870	TACR3	ORPHA:432
HP:0002761	Generalized joint hypermobility	1848	DUSP6	ORPHA:432
HP:0002761	Generalized joint hypermobility	26012	NSMF	ORPHA:432
HP:0002761	Generalized joint hypermobility	55717	WDR11	ORPHA:432
HP:0002761	Generalized joint hypermobility	4808	NHLH2	ORPHA:432
HP:0002761	Generalized joint hypermobility	9394	HS6ST1	ORPHA:432
HP:0002761	Generalized joint hypermobility	2796	GNRH1	ORPHA:432
HP:0002761	Generalized joint hypermobility	2798	GNRHR	ORPHA:432
HP:0002761	Generalized joint hypermobility	84634	KISS1R	ORPHA:432
HP:0002761	Generalized joint hypermobility	6866	TAC3	ORPHA:432
HP:0002761	Generalized joint hypermobility	8822	FGF17	ORPHA:432
HP:0002761	Generalized joint hypermobility	3814	KISS1	ORPHA:432
HP:0002761	Generalized joint hypermobility	3835	KIF22	ORPHA:93360
HP:0002761	Generalized joint hypermobility	10717	AP4B1	ORPHA:280763
HP:0002761	Generalized joint hypermobility	9179	AP4M1	ORPHA:280763
HP:0002761	Generalized joint hypermobility	11154	AP4S1	ORPHA:280763
HP:0002761	Generalized joint hypermobility	23431	AP4E1	ORPHA:280763
HP:0002761	Generalized joint hypermobility	1290	COL5A2	OMIM:130010
HP:0002761	Generalized joint hypermobility	1290	COL5A2	ORPHA:287
HP:0002761	Generalized joint hypermobility	23545	ATP6V0A2	ORPHA:357074
HP:0002761	Generalized joint hypermobility	23545	ATP6V0A2	ORPHA:2834
HP:0002761	Generalized joint hypermobility	523	ATP6V1A	ORPHA:357074
HP:0002761	Generalized joint hypermobility	529	ATP6V1E1	ORPHA:357074
HP:0002761	Generalized joint hypermobility	10526	IPO8	OMIM:619472
HP:0002761	Generalized joint hypermobility	165	AEBP1	OMIM:618000
HP:0002761	Generalized joint hypermobility	113189	CHST14	ORPHA:2953
HP:0002761	Generalized joint hypermobility	113189	CHST14	OMIM:601776
HP:0002761	Generalized joint hypermobility	29940	DSE	ORPHA:2953
HP:0002761	Generalized joint hypermobility	9968	MED12	ORPHA:93932
HP:0002761	Generalized joint hypermobility	2261	FGFR3	OMIM:100800
HP:0002761	Generalized joint hypermobility	23314	SATB2	ORPHA:251028
HP:0002761	Generalized joint hypermobility	4796	TONSL	ORPHA:93357
HP:0002761	Generalized joint hypermobility	5351	PLOD1	ORPHA:1900
HP:0002761	Generalized joint hypermobility	1277	COL1A1	ORPHA:287
HP:0002761	Generalized joint hypermobility	1289	COL5A1	ORPHA:287
HP:0002761	Generalized joint hypermobility	715	C1R	OMIM:130080
HP:0002761	Generalized joint hypermobility	55023	PHIP	ORPHA:589905
HP:0002761	Generalized joint hypermobility	6999	TDO2	OMIM:600627
HP:0002761	Generalized joint hypermobility	1280	COL2A1	ORPHA:85198
HP:0002761	Generalized joint hypermobility	55784	MCTP2	ORPHA:1596
HP:0002761	Generalized joint hypermobility	55154	MSTO1	ORPHA:502423
HP:0002761	Generalized joint hypermobility	871	SERPINH1	OMIM:613848
HP:0002762	Multiple exostoses	5781	PTPN11	OMIM:156250
HP:0002762	Multiple exostoses	2131	EXT1	OMIM:133700
HP:0002762	Multiple exostoses	2132	EXT2	OMIM:133701
HP:0002762	Multiple exostoses	4488	MSX2	ORPHA:60015
HP:0002762	Multiple exostoses	60529	ALX4	ORPHA:60015
HP:0002762	Multiple exostoses	6473	SHOX	OMIM:127300
HP:0002762	Multiple exostoses	5885	RAD21	ORPHA:502
HP:0002762	Multiple exostoses	7227	TRPS1	ORPHA:502
HP:0002763	Abnormal cartilage morphology	2131	EXT1	ORPHA:321
HP:0002763	Abnormal cartilage morphology	2132	EXT2	ORPHA:321
HP:0002763	Abnormal cartilage morphology	6399	TRAPPC2	ORPHA:93284
HP:0002763	Abnormal cartilage morphology	2260	FGFR1	ORPHA:2396
HP:0002763	Abnormal cartilage morphology	3845	KRAS	ORPHA:2396
HP:0002763	Abnormal cartilage morphology	5745	PTH1R	ORPHA:296
HP:0002763	Abnormal cartilage morphology	3418	IDH2	ORPHA:296
HP:0002763	Abnormal cartilage morphology	3417	IDH1	ORPHA:296
HP:0002763	Abnormal cartilage morphology	5828	PEX2	OMIM:614866
HP:0002763	Abnormal cartilage morphology	5830	PEX5	OMIM:214110
HP:0002763	Abnormal cartilage morphology	26137	ZBTB20	OMIM:259050
HP:0002763	Abnormal cartilage morphology	26137	ZBTB20	ORPHA:3042
HP:0002763	Abnormal cartilage morphology	5167	ENPP1	ORPHA:51608
HP:0002763	Abnormal cartilage morphology	368	ABCC6	ORPHA:51608
HP:0002763	Abnormal cartilage morphology	5727	PTCH1	OMIM:610828
HP:0002763	Abnormal cartilage morphology	7050	TGIF1	OMIM:142946
HP:0002763	Abnormal cartilage morphology	6496	SIX3	OMIM:157170
HP:0002763	Abnormal cartilage morphology	5781	PTPN11	OMIM:156250
HP:0002763	Abnormal cartilage morphology	5781	PTPN11	ORPHA:2499
HP:0002763	Abnormal cartilage morphology	1280	COL2A1	ORPHA:85198
HP:0002763	Abnormal cartilage morphology	84172	POLR1B	ORPHA:861
HP:0002763	Abnormal cartilage morphology	9533	POLR1C	ORPHA:861
HP:0002763	Abnormal cartilage morphology	51082	POLR1D	ORPHA:861
HP:0002763	Abnormal cartilage morphology	6949	TCOF1	ORPHA:861
HP:0002763	Abnormal cartilage morphology	8379	MAD1L1	OMIM:620189
HP:0002763	Abnormal cartilage morphology	3930	LBR	OMIM:215140
HP:0002763	Abnormal cartilage morphology	1906	EDN1	ORPHA:137888
HP:0002763	Abnormal cartilage morphology	5332	PLCB4	ORPHA:137888
HP:0002763	Abnormal cartilage morphology	2773	GNAI3	ORPHA:137888
HP:0002763	Abnormal cartilage morphology	58499	ZNF462	OMIM:618619
HP:0002763	Abnormal cartilage morphology	7291	TWIST1	ORPHA:794
HP:0002763	Abnormal cartilage morphology	7291	TWIST1	OMIM:101400
HP:0002763	Abnormal cartilage morphology	2263	FGFR2	ORPHA:794
HP:0002763	Abnormal cartilage morphology	2263	FGFR2	OMIM:101400
HP:0002763	Abnormal cartilage morphology	2261	FGFR3	ORPHA:794
HP:0002763	Abnormal cartilage morphology	63932	STEEP1	OMIM:301013
HP:0002763	Abnormal cartilage morphology	9653	HS2ST1	OMIM:619194
HP:0002763	Abnormal cartilage morphology	22907	DHX30	OMIM:617804
HP:0002763	Abnormal cartilage morphology	7468	NSD2	OMIM:619695
HP:0002763	Abnormal cartilage morphology	26123	TCTN3	ORPHA:2753
HP:0002763	Abnormal cartilage morphology	2317	FLNB	OMIM:108720
HP:0002763	Abnormal cartilage morphology	1836	SLC26A2	OMIM:256050
HP:0002763	Abnormal cartilage morphology	7317	UBA1	OMIM:301054
HP:0002763	Abnormal cartilage morphology	3081	HGD	ORPHA:56
HP:0002763	Abnormal cartilage morphology	4921	DDR2	OMIM:271665
HP:0002763	Abnormal cartilage morphology	4982	TNFRSF11B	ORPHA:1416
HP:0002763	Abnormal cartilage morphology	56172	ANKH	ORPHA:1416
HP:0002763	Abnormal cartilage morphology	4256	MGP	ORPHA:85202
HP:0002763	Abnormal cartilage morphology	2157	F8	ORPHA:169805
HP:0002763	Abnormal cartilage morphology	3106	HLA-B	ORPHA:29207
HP:0002763	Abnormal cartilage morphology	22827	PUF60	ORPHA:508488
HP:0002764	Stippled chondral calcification	5828	PEX2	OMIM:614866
HP:0002764	Stippled chondral calcification	5830	PEX5	OMIM:214110
HP:0002766	Relatively short spine	59341	TRPV4	OMIM:156530
HP:0000938	Osteopenia	144811	LACC1	ORPHA:85414
HP:0000938	Osteopenia	4282	MIF	ORPHA:85414
HP:0000938	Osteopenia	4282	MIF	ORPHA:586
HP:0000938	Osteopenia	3123	HLA-DRB1	ORPHA:85414
HP:0000938	Osteopenia	3569	IL6	ORPHA:85414
HP:0000938	Osteopenia	1763	DNA2	OMIM:620819
HP:0000938	Osteopenia	55503	TRPV6	OMIM:618188
HP:0000938	Osteopenia	8425	LTBP4	OMIM:613177
HP:0000938	Osteopenia	51126	NAA20	OMIM:619717
HP:0000938	Osteopenia	6938	TCF12	OMIM:619718
HP:0000938	Osteopenia	7355	SLC35A2	ORPHA:356961
HP:0000938	Osteopenia	673	BRAF	OMIM:115150
HP:0000938	Osteopenia	10973	ASCC3	OMIM:620700
HP:0000938	Osteopenia	118429	ANTXR2	ORPHA:2176
HP:0000938	Osteopenia	118429	ANTXR2	OMIM:228600
HP:0000938	Osteopenia	126792	B3GALT6	OMIM:609465
HP:0000938	Osteopenia	126792	B3GALT6	ORPHA:536467
HP:0000938	Osteopenia	126792	B3GALT6	OMIM:615349
HP:0000938	Osteopenia	91147	TMEM67	OMIM:602152
HP:0000938	Osteopenia	91147	TMEM67	ORPHA:140976
HP:0000938	Osteopenia	5352	PLOD2	OMIM:609220
HP:0000938	Osteopenia	3190	HNRNPK	ORPHA:453504
HP:0000938	Osteopenia	3190	HNRNPK	ORPHA:352665
HP:0000938	Osteopenia	54209	TREM2	OMIM:618193
HP:0000938	Osteopenia	4125	MAN2B1	ORPHA:309282
HP:0000938	Osteopenia	4125	MAN2B1	ORPHA:309288
HP:0000938	Osteopenia	4312	MMP1	ORPHA:79408
HP:0000938	Osteopenia	1294	COL7A1	ORPHA:79408
HP:0000938	Osteopenia	8443	GNPAT	OMIM:222765
HP:0000938	Osteopenia	2099	ESR1	OMIM:615363
HP:0000938	Osteopenia	2099	ESR1	ORPHA:785
HP:0000938	Osteopenia	4221	MEN1	ORPHA:2965
HP:0000938	Osteopenia	4221	MEN1	ORPHA:99879
HP:0000938	Osteopenia	64072	CDH23	ORPHA:2965
HP:0000938	Osteopenia	64072	CDH23	ORPHA:91347
HP:0000938	Osteopenia	9049	AIP	ORPHA:2965
HP:0000938	Osteopenia	2201	FBN2	OMIM:121050
HP:0000938	Osteopenia	50940	PDE11A	OMIM:610475
HP:0000938	Osteopenia	4882	NPR2	OMIM:615923
HP:0000938	Osteopenia	4000	LMNA	OMIM:248370
HP:0000938	Osteopenia	4000	LMNA	OMIM:212112
HP:0000938	Osteopenia	4000	LMNA	ORPHA:1662
HP:0000938	Osteopenia	84634	KISS1R	OMIM:614837
HP:0000938	Osteopenia	84634	KISS1R	ORPHA:432
HP:0000938	Osteopenia	79158	GNPTAB	OMIM:252500
HP:0000938	Osteopenia	9382	COG1	OMIM:611209
HP:0000938	Osteopenia	9382	COG1	ORPHA:263508
HP:0000938	Osteopenia	134218	DNAJC21	ORPHA:811
HP:0000938	Osteopenia	79631	EFL1	ORPHA:811
HP:0000938	Osteopenia	51119	SBDS	ORPHA:811
HP:0000938	Osteopenia	64175	P3H1	OMIM:610915
HP:0000938	Osteopenia	7125	TNNC2	OMIM:620161
HP:0000938	Osteopenia	6772	STAT1	OMIM:614162
HP:0000938	Osteopenia	6772	STAT1	ORPHA:391487
HP:0000938	Osteopenia	2859	GPR35	ORPHA:171
HP:0000938	Osteopenia	10507	SEMA4D	ORPHA:171
HP:0000938	Osteopenia	4485	MST1	ORPHA:171
HP:0000938	Osteopenia	6925	TCF4	ORPHA:171
HP:0000938	Osteopenia	26277	TINF2	OMIM:613990
HP:0000938	Osteopenia	3899	AFF3	OMIM:619297
HP:0000938	Osteopenia	80204	FBXO11	OMIM:618089
HP:0000938	Osteopenia	23545	ATP6V0A2	ORPHA:2834
HP:0000938	Osteopenia	23545	ATP6V0A2	OMIM:278250
HP:0000938	Osteopenia	4853	NOTCH2	OMIM:102500
HP:0000938	Osteopenia	4853	NOTCH2	ORPHA:955
HP:0000938	Osteopenia	90993	CREB3L1	OMIM:616229
HP:0000938	Osteopenia	5573	PRKAR1A	OMIM:610489
HP:0000938	Osteopenia	4313	MMP2	ORPHA:371428
HP:0000938	Osteopenia	4313	MMP2	OMIM:259600
HP:0000938	Osteopenia	4323	MMP14	ORPHA:371428
HP:0000938	Osteopenia	1277	COL1A1	ORPHA:287
HP:0000938	Osteopenia	1277	COL1A1	OMIM:130060
HP:0000938	Osteopenia	1277	COL1A1	OMIM:166200
HP:0000938	Osteopenia	1289	COL5A1	ORPHA:287
HP:0000938	Osteopenia	1290	COL5A2	ORPHA:287
HP:0000938	Osteopenia	10484	SEC23A	OMIM:607812
HP:0000938	Osteopenia	8726	EED	OMIM:617561
HP:0000938	Osteopenia	81848	SPRY4	OMIM:615266
HP:0000938	Osteopenia	81848	SPRY4	ORPHA:432
HP:0000938	Osteopenia	1848	DUSP6	OMIM:615269
HP:0000938	Osteopenia	1848	DUSP6	ORPHA:432
HP:0000938	Osteopenia	54756	IL17RD	OMIM:615267
HP:0000938	Osteopenia	1028	CDKN1C	OMIM:614732
HP:0000938	Osteopenia	8642	DCHS1	OMIM:601390
HP:0000938	Osteopenia	8642	DCHS1	ORPHA:314679
HP:0000938	Osteopenia	4247	MGAT2	OMIM:212066
HP:0000938	Osteopenia	4247	MGAT2	ORPHA:79329
HP:0000938	Osteopenia	8517	IKBKG	ORPHA:98813
HP:0000938	Osteopenia	4792	NFKBIA	ORPHA:98813
HP:0000938	Osteopenia	165	AEBP1	ORPHA:536532
HP:0000938	Osteopenia	165	AEBP1	OMIM:618000
HP:0000938	Osteopenia	5373	PMM2	OMIM:212065
HP:0000938	Osteopenia	5373	PMM2	ORPHA:79318
HP:0000938	Osteopenia	1588	CYP19A1	ORPHA:91
HP:0000938	Osteopenia	1576	CYP3A4	OMIM:619073
HP:0000938	Osteopenia	9056	SLC7A7	ORPHA:470
HP:0000938	Osteopenia	11285	B4GALT7	OMIM:130070
HP:0000938	Osteopenia	11285	B4GALT7	ORPHA:75496
HP:0000938	Osteopenia	8822	FGF17	OMIM:615270
HP:0000938	Osteopenia	8822	FGF17	ORPHA:432
HP:0000938	Osteopenia	595	CCND1	ORPHA:29073
HP:0000938	Osteopenia	5034	P4HB	OMIM:112240
HP:0000938	Osteopenia	23767	FLRT3	OMIM:615271
HP:0000938	Osteopenia	51604	PIGT	OMIM:615398
HP:0000938	Osteopenia	51604	PIGT	ORPHA:369837
HP:0000938	Osteopenia	5566	PRKACA	OMIM:615830
HP:0000938	Osteopenia	6135	RPL11	OMIM:612562
HP:0000938	Osteopenia	1593	CYP27A1	ORPHA:909
HP:0000938	Osteopenia	55699	IARS2	OMIM:616007
HP:0000938	Osteopenia	7015	TERT	OMIM:614742
HP:0000938	Osteopenia	8239	USP9X	ORPHA:480880
HP:0000938	Osteopenia	6804	STX1A	ORPHA:904
HP:0000938	Osteopenia	6804	STX1A	ORPHA:586
HP:0000938	Osteopenia	7461	CLIP2	ORPHA:904
HP:0000938	Osteopenia	84277	DNAJC30	ORPHA:904
HP:0000938	Osteopenia	8468	FKBP6	ORPHA:904
HP:0000938	Osteopenia	5982	RFC2	ORPHA:904
HP:0000938	Osteopenia	2969	GTF2I	ORPHA:904
HP:0000938	Osteopenia	3984	LIMK1	ORPHA:904
HP:0000938	Osteopenia	9569	GTF2IRD1	ORPHA:904
HP:0000938	Osteopenia	155382	VPS37D	ORPHA:904
HP:0000938	Osteopenia	155368	METTL27	ORPHA:904
HP:0000938	Osteopenia	114049	BUD23	ORPHA:904
HP:0000938	Osteopenia	7458	EIF4H	ORPHA:904
HP:0000938	Osteopenia	84163	GTF2IRD2	ORPHA:904
HP:0000938	Osteopenia	26608	TBL2	ORPHA:904
HP:0000938	Osteopenia	653361	NCF1	ORPHA:904
HP:0000938	Osteopenia	135886	TMEM270	ORPHA:904
HP:0000938	Osteopenia	9031	BAZ1B	ORPHA:904
HP:0000938	Osteopenia	2006	ELN	ORPHA:904
HP:0000938	Osteopenia	2006	ELN	OMIM:194050
HP:0000938	Osteopenia	2006	ELN	ORPHA:90348
HP:0000938	Osteopenia	285175	UNC80	OMIM:616801
HP:0000938	Osteopenia	1650	DDOST	OMIM:614507
HP:0000938	Osteopenia	1650	DDOST	ORPHA:300536
HP:0000938	Osteopenia	10056	FARSB	OMIM:613658
HP:0000938	Osteopenia	9719	ADAMTSL2	OMIM:231050
HP:0000938	Osteopenia	9719	ADAMTSL2	ORPHA:1901
HP:0000938	Osteopenia	4893	NRAS	OMIM:163200
HP:0000938	Osteopenia	4893	NRAS	ORPHA:648
HP:0000938	Osteopenia	3845	KRAS	OMIM:163200
HP:0000938	Osteopenia	3845	KRAS	ORPHA:648
HP:0000938	Osteopenia	3265	HRAS	OMIM:163200
HP:0000938	Osteopenia	84992	PIGY	OMIM:616809
HP:0000938	Osteopenia	79759	ZNF668	OMIM:620194
HP:0000938	Osteopenia	2947	GSTM3	ORPHA:586
HP:0000938	Osteopenia	7040	TGFB1	ORPHA:586
HP:0000938	Osteopenia	2729	GCLC	ORPHA:586
HP:0000938	Osteopenia	1084	CEACAM3	ORPHA:586
HP:0000938	Osteopenia	6556	SLC11A1	ORPHA:586
HP:0000938	Osteopenia	51164	DCTN4	ORPHA:586
HP:0000938	Osteopenia	3783	KCNN4	ORPHA:586
HP:0000938	Osteopenia	1909	EDNRA	ORPHA:586
HP:0000938	Osteopenia	6550	SLC9A3	ORPHA:586
HP:0000938	Osteopenia	3162	HMOX1	ORPHA:586
HP:0000938	Osteopenia	115019	SLC26A9	ORPHA:586
HP:0000938	Osteopenia	3077	HFE	ORPHA:586
HP:0000938	Osteopenia	11254	SLC6A14	ORPHA:586
HP:0000938	Osteopenia	5265	SERPINA1	ORPHA:586
HP:0000938	Osteopenia	1080	CFTR	ORPHA:586
HP:0000938	Osteopenia	22802	CLCA4	ORPHA:586
HP:0000938	Osteopenia	4680	CEACAM6	ORPHA:586
HP:0000938	Osteopenia	5626	PROP1	ORPHA:95494
HP:0000938	Osteopenia	5626	PROP1	ORPHA:90695
HP:0000938	Osteopenia	2736	GLI2	ORPHA:95494
HP:0000938	Osteopenia	89884	LHX4	ORPHA:95494
HP:0000938	Osteopenia	3170	FOXA2	ORPHA:95494
HP:0000938	Osteopenia	5449	POU1F1	ORPHA:95494
HP:0000938	Osteopenia	8820	HESX1	ORPHA:95494
HP:0000938	Osteopenia	5015	OTX2	ORPHA:95494
HP:0000938	Osteopenia	3043	HBB	ORPHA:231222
HP:0000938	Osteopenia	4041	LRP5	OMIM:601813
HP:0000938	Osteopenia	4041	LRP5	OMIM:259770
HP:0000938	Osteopenia	4041	LRP5	ORPHA:2788
HP:0000938	Osteopenia	79991	STN1	OMIM:617341
HP:0000938	Osteopenia	6774	STAT3	OMIM:147060
HP:0000938	Osteopenia	6774	STAT3	ORPHA:2314
HP:0000938	Osteopenia	9276	COPB2	OMIM:619884
HP:0000938	Osteopenia	8733	GPAA1	ORPHA:529665
HP:0000938	Osteopenia	8733	GPAA1	OMIM:617810
HP:0000938	Osteopenia	9247	GCM2	OMIM:617343
HP:0000938	Osteopenia	9247	GCM2	ORPHA:99879
HP:0000938	Osteopenia	23187	PHLDB1	OMIM:620639
HP:0000938	Osteopenia	79633	FAT4	ORPHA:314679
HP:0000938	Osteopenia	79633	FAT4	OMIM:615546
HP:0000938	Osteopenia	51085	MLXIPL	OMIM:194050
HP:0000938	Osteopenia	3911	LAMA5	OMIM:620076
HP:0000938	Osteopenia	11128	POLR3A	ORPHA:3455
HP:0000938	Osteopenia	6638	SNRPN	ORPHA:98754
HP:0000938	Osteopenia	6638	SNRPN	ORPHA:177904
HP:0000938	Osteopenia	6638	SNRPN	ORPHA:177901
HP:0000938	Osteopenia	4692	NDN	ORPHA:98754
HP:0000938	Osteopenia	4692	NDN	ORPHA:177904
HP:0000938	Osteopenia	4692	NDN	ORPHA:177901
HP:0000938	Osteopenia	54551	MAGEL2	ORPHA:98754
HP:0000938	Osteopenia	54551	MAGEL2	OMIM:176270
HP:0000938	Osteopenia	54551	MAGEL2	ORPHA:177904
HP:0000938	Osteopenia	54551	MAGEL2	ORPHA:177901
HP:0000938	Osteopenia	54551	MAGEL2	ORPHA:398069
HP:0000938	Osteopenia	4948	OCA2	ORPHA:98754
HP:0000938	Osteopenia	4948	OCA2	ORPHA:177904
HP:0000938	Osteopenia	4948	OCA2	ORPHA:177901
HP:0000938	Osteopenia	23314	SATB2	ORPHA:576283
HP:0000938	Osteopenia	23314	SATB2	ORPHA:251028
HP:0000938	Osteopenia	3187	HNRNPH1	OMIM:620083
HP:0000938	Osteopenia	5618	PRLR	ORPHA:397685
HP:0000938	Osteopenia	54941	RNF125	OMIM:616260
HP:0000938	Osteopenia	79989	IFT56	OMIM:619534
HP:0000938	Osteopenia	9394	HS6ST1	OMIM:614880
HP:0000938	Osteopenia	9394	HS6ST1	ORPHA:432
HP:0000938	Osteopenia	6603	SMARCD2	OMIM:617475
HP:0000938	Osteopenia	3977	LIFR	ORPHA:3206
HP:0000938	Osteopenia	2260	FGFR1	OMIM:166250
HP:0000938	Osteopenia	2260	FGFR1	ORPHA:432
HP:0000938	Osteopenia	2260	FGFR1	OMIM:147950
HP:0000938	Osteopenia	10516	FBLN5	ORPHA:90348
HP:0000938	Osteopenia	5832	ALDH18A1	ORPHA:90348
HP:0000938	Osteopenia	5832	ALDH18A1	OMIM:616603
HP:0000938	Osteopenia	4088	SMAD3	OMIM:613795
HP:0000938	Osteopenia	50628	GEMIN4	OMIM:617913
HP:0000938	Osteopenia	64116	SLC39A8	ORPHA:468699
HP:0000938	Osteopenia	64116	SLC39A8	OMIM:616721
HP:0000938	Osteopenia	404672	GTF2H5	ORPHA:33364
HP:0000938	Osteopenia	833	CARS1	ORPHA:33364
HP:0000938	Osteopenia	2068	ERCC2	ORPHA:33364
HP:0000938	Osteopenia	7737	RNF113A	ORPHA:33364
HP:0000938	Osteopenia	136647	MPLKIP	ORPHA:33364
HP:0000938	Osteopenia	6897	TARS1	ORPHA:33364
HP:0000938	Osteopenia	16	AARS1	ORPHA:33364
HP:0000938	Osteopenia	2071	ERCC3	ORPHA:33364
HP:0000938	Osteopenia	2961	GTF2E2	ORPHA:33364
HP:0000938	Osteopenia	10195	ALG3	ORPHA:79321
HP:0000938	Osteopenia	5836	PYGL	ORPHA:369
HP:0000938	Osteopenia	387733	IFITM5	OMIM:610967
HP:0000938	Osteopenia	60681	FKBP10	OMIM:610968
HP:0000938	Osteopenia	10312	TCIRG1	ORPHA:486
HP:0000938	Osteopenia	6728	SRP19	ORPHA:486
HP:0000938	Osteopenia	1991	ELANE	ORPHA:486
HP:0000938	Osteopenia	2672	GFI1	ORPHA:486
HP:0000938	Osteopenia	81570	CLPB	ORPHA:486
HP:0000938	Osteopenia	29893	PSMC3IP	ORPHA:243
HP:0000938	Osteopenia	171568	POLR3H	ORPHA:243
HP:0000938	Osteopenia	2516	NR5A1	ORPHA:243
HP:0000938	Osteopenia	125150	ZSWIM7	ORPHA:243
HP:0000938	Osteopenia	9210	BMP15	ORPHA:243
HP:0000938	Osteopenia	57122	NUP107	ORPHA:243
HP:0000938	Osteopenia	23514	SPIDR	ORPHA:243
HP:0000938	Osteopenia	2492	FSHR	ORPHA:243
HP:0000938	Osteopenia	56945	MRPS22	ORPHA:243
HP:0000938	Osteopenia	646	BNC1	ORPHA:243
HP:0000938	Osteopenia	4438	MSH4	ORPHA:243
HP:0000938	Osteopenia	91252	SLC39A13	ORPHA:157965
HP:0000938	Osteopenia	91252	SLC39A13	OMIM:612350
HP:0000938	Osteopenia	2629	GBA1	ORPHA:77261
HP:0000938	Osteopenia	2629	GBA1	ORPHA:77259
HP:0000938	Osteopenia	9742	IFT140	OMIM:266920
HP:0000938	Osteopenia	55151	TMEM38B	OMIM:615066
HP:0000938	Osteopenia	203859	ANO5	OMIM:166260
HP:0000938	Osteopenia	203859	ANO5	ORPHA:53697
HP:0000938	Osteopenia	7227	TRPS1	OMIM:190350
HP:0000938	Osteopenia	7227	TRPS1	OMIM:190351
HP:0000938	Osteopenia	5426	POLE	OMIM:618336
HP:0000938	Osteopenia	10664	CTCF	OMIM:615502
HP:0000938	Osteopenia	10664	CTCF	ORPHA:363611
HP:0000938	Osteopenia	284119	CAVIN1	OMIM:613327
HP:0000938	Osteopenia	2200	FBN1	ORPHA:2462
HP:0000938	Osteopenia	6497	SKI	ORPHA:2462
HP:0000938	Osteopenia	6497	SKI	OMIM:182212
HP:0000938	Osteopenia	90417	KNSTRN	OMIM:613328
HP:0000938	Osteopenia	90417	KNSTRN	ORPHA:221139
HP:0000938	Osteopenia	5293	PIK3CD	OMIM:613328
HP:0000938	Osteopenia	5293	PIK3CD	ORPHA:221139
HP:0000938	Osteopenia	865	CBFB	OMIM:620099
HP:0000938	Osteopenia	6658	SOX3	ORPHA:90695
HP:0000938	Osteopenia	950	SCARB2	ORPHA:77259
HP:0000938	Osteopenia	64132	XYLT2	OMIM:605822
HP:0000938	Osteopenia	128674	PROKR2	ORPHA:432
HP:0000938	Osteopenia	2253	FGF8	ORPHA:432
HP:0000938	Osteopenia	60675	PROK2	ORPHA:432
HP:0000938	Osteopenia	55636	CHD7	ORPHA:432
HP:0000938	Osteopenia	6870	TACR3	ORPHA:432
HP:0000938	Osteopenia	26012	NSMF	ORPHA:432
HP:0000938	Osteopenia	55717	WDR11	ORPHA:432
HP:0000938	Osteopenia	4808	NHLH2	ORPHA:432
HP:0000938	Osteopenia	2796	GNRH1	ORPHA:432
HP:0000938	Osteopenia	2798	GNRHR	ORPHA:432
HP:0000938	Osteopenia	6866	TAC3	ORPHA:432
HP:0000938	Osteopenia	3814	KISS1	ORPHA:432
HP:0000938	Osteopenia	5351	PLOD1	OMIM:225400
HP:0000938	Osteopenia	5351	PLOD1	ORPHA:1900
HP:0000938	Osteopenia	2778	GNAS	OMIM:219080
HP:0000938	Osteopenia	8818	DPM2	ORPHA:329178
HP:0000938	Osteopenia	9842	PLEKHM1	OMIM:618107
HP:0000938	Osteopenia	89970	RSPRY1	OMIM:616723
HP:0000938	Osteopenia	89970	RSPRY1	ORPHA:457395
HP:0000938	Osteopenia	90459	ERI1	OMIM:620663
HP:0000938	Osteopenia	90459	ERI1	OMIM:620662
HP:0000938	Osteopenia	100033413	SNORD116-1	OMIM:176270
HP:0000938	Osteopenia	8924	HERC2	OMIM:176270
HP:0000938	Osteopenia	23742	NPAP1	OMIM:176270
HP:0000938	Osteopenia	338433	SNORD115-1	OMIM:176270
HP:0000938	Osteopenia	7681	MKRN3	OMIM:176270
HP:0000938	Osteopenia	145624	PWAR1	OMIM:176270
HP:0000938	Osteopenia	3653	IPW	OMIM:176270
HP:0000938	Osteopenia	791114	PWRN1	OMIM:176270
HP:0000938	Osteopenia	128869	PIGU	OMIM:618590
HP:0000938	Osteopenia	9871	SEC24D	OMIM:616294
HP:0000938	Osteopenia	6809	STX3	OMIM:619445
HP:0000938	Osteopenia	6809	STX3	OMIM:619446
HP:0000938	Osteopenia	57520	HECW2	OMIM:617268
HP:0000938	Osteopenia	23586	RIGI	OMIM:616298
HP:0000938	Osteopenia	6492	SIM1	ORPHA:398079
HP:0000938	Osteopenia	169792	GLIS3	OMIM:610199
HP:0000938	Osteopenia	5831	PYCR1	OMIM:614438
HP:0000938	Osteopenia	5831	PYCR1	OMIM:612940
HP:0000938	Osteopenia	55033	FKBP14	OMIM:614557
HP:0000938	Osteopenia	55033	FKBP14	ORPHA:300179
HP:0000938	Osteopenia	2542	SLC37A4	ORPHA:79259
HP:0000938	Osteopenia	64135	IFIH1	OMIM:182250
HP:0000938	Osteopenia	6609	SMPD1	ORPHA:77293
HP:0000938	Osteopenia	2530	FUT8	OMIM:618005
HP:0000938	Osteopenia	10265	IRX5	OMIM:611174
HP:0000938	Osteopenia	551	AVP	OMIM:125700
HP:0000938	Osteopenia	92344	GORAB	OMIM:231070
HP:0000938	Osteopenia	79577	CDC73	ORPHA:99879
HP:0000938	Osteopenia	26146	TRAF3IP1	OMIM:616629
HP:0000938	Osteopenia	9509	ADAMTS2	ORPHA:1901
HP:0000938	Osteopenia	9509	ADAMTS2	OMIM:225410
HP:0000938	Osteopenia	55750	AGK	OMIM:212350
HP:0000938	Osteopenia	7389	UROD	ORPHA:95159
HP:0000938	Osteopenia	4547	MTTP	ORPHA:14
HP:0000938	Osteopenia	4982	TNFRSF11B	OMIM:239000
HP:0000938	Osteopenia	6557	SLC12A1	OMIM:601678
HP:0000938	Osteopenia	3479	IGF1	OMIM:608747
HP:0000938	Osteopenia	4507	MTAP	OMIM:112250
HP:0000938	Osteopenia	3758	KCNJ1	OMIM:241200
HP:0000938	Osteopenia	8985	PLOD3	OMIM:612394
HP:0000938	Osteopenia	9419	CRIPT	OMIM:615789
HP:0000938	Osteopenia	84701	COX4I2	OMIM:612714
HP:0000938	Osteopenia	4763	NF1	ORPHA:97685
HP:0000938	Osteopenia	5660	PSAP	OMIM:610539
HP:0000938	Osteopenia	538	ATP7A	ORPHA:198
HP:0000938	Osteopenia	9368	NHERF1	OMIM:612287
HP:0000938	Osteopenia	6569	SLC34A1	OMIM:612286
HP:0000938	Osteopenia	6569	SLC34A1	OMIM:613388
HP:0000938	Osteopenia	9401	RECQL4	ORPHA:221016
HP:0000938	Osteopenia	5205	ATP8B1	OMIM:211600
HP:0000938	Osteopenia	3248	HPGD	OMIM:259100
HP:0000938	Osteopenia	4796	TONSL	OMIM:271510
HP:0000938	Osteopenia	51360	MBTPS2	OMIM:301014
HP:0000938	Osteopenia	6872	TAF1	OMIM:300966
HP:0000938	Osteopenia	285590	SH3PXD2B	OMIM:249420
HP:0000938	Osteopenia	374879	ZNF699	OMIM:619488
HP:0000938	Osteopenia	60676	PAPPA2	OMIM:619489
HP:0000938	Osteopenia	10651	MTX2	OMIM:619127
HP:0000938	Osteopenia	51124	IER3IP1	OMIM:614231
HP:0000938	Osteopenia	202018	TAPT1	OMIM:616897
HP:0000938	Osteopenia	3557	IL1RN	OMIM:612852
HP:0000938	Osteopenia	6514	SLC2A2	ORPHA:2088
HP:0000938	Osteopenia	50485	SMARCAL1	OMIM:242900
HP:0000938	Osteopenia	6554	SLC10A1	OMIM:619256
HP:0000938	Osteopenia	5745	PTH1R	OMIM:156400
HP:0000938	Osteopenia	7390	UROS	OMIM:263700
HP:0000938	Osteopenia	7390	UROS	ORPHA:79277
HP:0000938	Osteopenia	9365	KL	OMIM:617994
HP:0000938	Osteopenia	26503	SLC17A5	OMIM:269920
HP:0000938	Osteopenia	650	BMP2	OMIM:617877
HP:0000938	Osteopenia	4668	NAGA	OMIM:609241
HP:0000938	Osteopenia	100151683	RNU4ATAC	ORPHA:2636
HP:0000938	Osteopenia	10491	CRTAP	OMIM:610682
HP:0000938	Osteopenia	4194	MDM4	OMIM:618849
HP:0000938	Osteopenia	10269	ZMPSTE24	ORPHA:1662
HP:0000938	Osteopenia	55811	ADCY10	ORPHA:2197
HP:0000938	Osteopenia	3295	HSD17B4	OMIM:261515
HP:0000938	Osteopenia	22800	RRAS2	ORPHA:648
HP:0000938	Osteopenia	867	CBL	ORPHA:648
HP:0000938	Osteopenia	8216	LZTR1	ORPHA:648
HP:0000938	Osteopenia	6016	RIT1	ORPHA:648
HP:0000938	Osteopenia	6237	RRAS	ORPHA:648
HP:0000938	Osteopenia	5894	RAF1	ORPHA:648
HP:0000938	Osteopenia	22808	MRAS	ORPHA:648
HP:0000938	Osteopenia	200734	SPRED2	ORPHA:648
HP:0000938	Osteopenia	6654	SOS1	ORPHA:648
HP:0000938	Osteopenia	6655	SOS2	ORPHA:648
HP:0000938	Osteopenia	5781	PTPN11	ORPHA:648
HP:0000938	Osteopenia	5922	RASA2	ORPHA:648
HP:0000938	Osteopenia	5479	PPIB	OMIM:259440
HP:0000938	Osteopenia	2263	FGFR2	ORPHA:313855
HP:0000938	Osteopenia	92345	NAF1	OMIM:620365
HP:0000938	Osteopenia	166929	SGMS2	OMIM:126550
HP:0000938	Osteopenia	9469	CHST3	OMIM:245600
HP:0000938	Osteopenia	26229	B3GAT3	OMIM:245600
HP:0000938	Osteopenia	375056	MIA3	OMIM:619269
HP:0000938	Osteopenia	7543	ZFX	OMIM:301118
HP:0000938	Osteopenia	80169	CTC1	OMIM:612199
HP:0000938	Osteopenia	9935	MAFB	OMIM:166300
HP:0000938	Osteopenia	25886	POC1A	OMIM:614813
HP:0000938	Osteopenia	871	SERPINH1	OMIM:613848
HP:0000938	Osteopenia	2623	GATA1	ORPHA:79277
HP:0000938	Osteopenia	64682	ANAPC1	ORPHA:221008
HP:0002808	Kyphosis	6834	SURF1	OMIM:616684
HP:0002808	Kyphosis	8838	CCN6	OMIM:208230
HP:0002808	Kyphosis	11284	PNKP	ORPHA:459033
HP:0002808	Kyphosis	3008	H1-4	OMIM:617537
HP:0002808	Kyphosis	1788	DNMT3A	ORPHA:404443
HP:0002808	Kyphosis	7138	TNNT1	OMIM:620386
HP:0002808	Kyphosis	5376	PMP22	OMIM:180800
HP:0002808	Kyphosis	5376	PMP22	ORPHA:3115
HP:0002808	Kyphosis	5376	PMP22	ORPHA:101081
HP:0002808	Kyphosis	5376	PMP22	OMIM:118220
HP:0002808	Kyphosis	5376	PMP22	OMIM:145900
HP:0002808	Kyphosis	4359	MPZ	OMIM:180800
HP:0002808	Kyphosis	4359	MPZ	ORPHA:3115
HP:0002808	Kyphosis	4359	MPZ	OMIM:118200
HP:0002808	Kyphosis	4359	MPZ	OMIM:145900
HP:0002808	Kyphosis	79581	SLC52A2	OMIM:614707
HP:0002808	Kyphosis	9401	RECQL4	OMIM:268400
HP:0002808	Kyphosis	54332	GDAP1	OMIM:607831
HP:0002808	Kyphosis	54332	GDAP1	OMIM:214400
HP:0002808	Kyphosis	56704	JPH1	OMIM:607831
HP:0002808	Kyphosis	65993	MRPS34	OMIM:617664
HP:0002808	Kyphosis	1855	DVL1	OMIM:616331
HP:0002808	Kyphosis	64412	GZF1	OMIM:617662
HP:0002808	Kyphosis	2201	FBN2	OMIM:121050
HP:0002808	Kyphosis	3149	HMGB3	OMIM:300915
HP:0002808	Kyphosis	10847	SRCAP	ORPHA:2044
HP:0002808	Kyphosis	10847	SRCAP	OMIM:136140
HP:0002808	Kyphosis	10978	CLP1	OMIM:615803
HP:0002808	Kyphosis	81846	SBF2	OMIM:604563
HP:0002808	Kyphosis	81846	SBF2	ORPHA:99956
HP:0002808	Kyphosis	9382	COG1	OMIM:611209
HP:0002808	Kyphosis	9382	COG1	ORPHA:263508
HP:0002808	Kyphosis	57231	SNX14	ORPHA:397709
HP:0002808	Kyphosis	57231	SNX14	OMIM:616354
HP:0002808	Kyphosis	1763	DNA2	OMIM:615807
HP:0002808	Kyphosis	113189	CHST14	ORPHA:2953
HP:0002808	Kyphosis	29940	DSE	ORPHA:2953
HP:0002808	Kyphosis	10381	TUBB3	ORPHA:300570
HP:0002808	Kyphosis	23184	MESD	OMIM:618644
HP:0002808	Kyphosis	55858	TMEM165	OMIM:614727
HP:0002808	Kyphosis	5191	PEX7	OMIM:215100
HP:0002808	Kyphosis	57190	SELENON	ORPHA:2020
HP:0002808	Kyphosis	4633	MYL2	ORPHA:2020
HP:0002808	Kyphosis	3679	ITGA7	ORPHA:2020
HP:0002808	Kyphosis	9200	HACD1	ORPHA:2020
HP:0002808	Kyphosis	7170	TPM3	ORPHA:2020
HP:0002808	Kyphosis	51776	MAP3K20	ORPHA:2020
HP:0002808	Kyphosis	1193	CLIC2	ORPHA:324410
HP:0002808	Kyphosis	649	BMP1	OMIM:614856
HP:0002808	Kyphosis	4598	MVK	OMIM:610377
HP:0002808	Kyphosis	6261	RYR1	ORPHA:597
HP:0002808	Kyphosis	6261	RYR1	OMIM:619542
HP:0002808	Kyphosis	5654	HTRA1	ORPHA:199354
HP:0002808	Kyphosis	55131	RBM28	ORPHA:157954
HP:0002808	Kyphosis	55131	RBM28	OMIM:612079
HP:0002808	Kyphosis	9255	AIMP1	OMIM:260600
HP:0002808	Kyphosis	4893	NRAS	OMIM:163200
HP:0002808	Kyphosis	3845	KRAS	OMIM:163200
HP:0002808	Kyphosis	3265	HRAS	OMIM:163200
HP:0002808	Kyphosis	6506	SLC1A2	OMIM:617105
HP:0002808	Kyphosis	84919	PPP1R15B	OMIM:616817
HP:0002808	Kyphosis	84919	PPP1R15B	ORPHA:391408
HP:0002808	Kyphosis	388015	RTL1	ORPHA:96334
HP:0002808	Kyphosis	8788	DLK1	ORPHA:96334
HP:0002808	Kyphosis	55384	MEG3	ORPHA:96334
HP:0002808	Kyphosis	2316	FLNA	OMIM:304120
HP:0002808	Kyphosis	2316	FLNA	OMIM:309350
HP:0002808	Kyphosis	51085	MLXIPL	OMIM:194050
HP:0002808	Kyphosis	10667	FARS2	ORPHA:466722
HP:0002808	Kyphosis	11128	POLR3A	ORPHA:3455
HP:0002808	Kyphosis	10430	TMEM147	OMIM:620075
HP:0002808	Kyphosis	339855	KY	ORPHA:496689
HP:0002808	Kyphosis	9147	NEMF	OMIM:619099
HP:0002808	Kyphosis	7317	UBA1	ORPHA:1145
HP:0002808	Kyphosis	4313	MMP2	OMIM:259600
HP:0002808	Kyphosis	6567	SLC16A2	ORPHA:59
HP:0002808	Kyphosis	5832	ALDH18A1	ORPHA:447760
HP:0002808	Kyphosis	10397	NDRG1	ORPHA:99950
HP:0002808	Kyphosis	10397	NDRG1	OMIM:601455
HP:0002808	Kyphosis	5781	PTPN11	OMIM:151100
HP:0002808	Kyphosis	5781	PTPN11	OMIM:163950
HP:0002808	Kyphosis	91252	SLC39A13	OMIM:612350
HP:0002808	Kyphosis	9894	TELO2	OMIM:616954
HP:0002808	Kyphosis	9894	TELO2	ORPHA:488642
HP:0002808	Kyphosis	2744	GLS	OMIM:618339
HP:0002808	Kyphosis	196528	ARID2	OMIM:617808
HP:0002808	Kyphosis	1959	EGR2	OMIM:145900
HP:0002808	Kyphosis	57716	PRX	OMIM:145900
HP:0002808	Kyphosis	78987	CRELD1	OMIM:620771
HP:0002808	Kyphosis	23111	SPART	OMIM:275900
HP:0002808	Kyphosis	5351	PLOD1	OMIM:225400
HP:0002808	Kyphosis	579	NKX3-2	OMIM:613330
HP:0002808	Kyphosis	57122	NUP107	OMIM:618348
HP:0002808	Kyphosis	411	ARSB	OMIM:253200
HP:0002808	Kyphosis	4722	NDUFS3	OMIM:618230
HP:0002808	Kyphosis	55033	FKBP14	OMIM:614557
HP:0002808	Kyphosis	55033	FKBP14	ORPHA:300179
HP:0002808	Kyphosis	3736	KCNA1	ORPHA:37612
HP:0002808	Kyphosis	2068	ERCC2	OMIM:610756
HP:0002808	Kyphosis	4621	MYH3	OMIM:193700
HP:0002808	Kyphosis	2530	FUT8	OMIM:618005
HP:0002808	Kyphosis	84068	SLC10A7	OMIM:618363
HP:0002808	Kyphosis	182	JAG1	OMIM:619574
HP:0002808	Kyphosis	7965	AIMP2	OMIM:618006
HP:0002808	Kyphosis	92344	GORAB	OMIM:231070
HP:0002808	Kyphosis	6678	SPARC	OMIM:616507
HP:0002808	Kyphosis	25778	DSTYK	ORPHA:101003
HP:0002808	Kyphosis	4547	MTTP	ORPHA:14
HP:0002808	Kyphosis	80185	TTI2	OMIM:615541
HP:0002808	Kyphosis	80185	TTI2	ORPHA:391307
HP:0002808	Kyphosis	84896	ATAD1	OMIM:618011
HP:0002808	Kyphosis	51715	RAB23	ORPHA:65759
HP:0002808	Kyphosis	1954	MEGF8	ORPHA:65759
HP:0002808	Kyphosis	2218	FKTN	ORPHA:370980
HP:0002808	Kyphosis	729920	CRPPA	ORPHA:370980
HP:0002808	Kyphosis	10585	POMT1	ORPHA:370980
HP:0002808	Kyphosis	26040	SETBP1	ORPHA:798
HP:0002808	Kyphosis	11285	B4GALT7	ORPHA:75496
HP:0002808	Kyphosis	4659	PPP1R12A	OMIM:618820
HP:0002808	Kyphosis	10382	TUBB4A	ORPHA:98805
HP:0002808	Kyphosis	56270	WDR45B	OMIM:617977
HP:0002808	Kyphosis	9060	PAPSS2	OMIM:612847
HP:0002808	Kyphosis	4796	TONSL	ORPHA:93357
HP:0002808	Kyphosis	4796	TONSL	OMIM:271510
HP:0002808	Kyphosis	4649	MYO9A	ORPHA:98914
HP:0002808	Kyphosis	1305	COL13A1	ORPHA:98914
HP:0002808	Kyphosis	1103	CHAT	ORPHA:98914
HP:0002808	Kyphosis	6576	SLC25A1	ORPHA:98914
HP:0002808	Kyphosis	375790	AGRN	ORPHA:98914
HP:0002808	Kyphosis	127833	SYT2	ORPHA:98914
HP:0002808	Kyphosis	6572	SLC18A3	ORPHA:98914
HP:0002808	Kyphosis	6616	SNAP25	ORPHA:98914
HP:0002808	Kyphosis	55717	WDR11	OMIM:620237
HP:0002808	Kyphosis	93587	TRMT10A	ORPHA:391408
HP:0002808	Kyphosis	126792	B3GALT6	OMIM:271640
HP:0002808	Kyphosis	126792	B3GALT6	ORPHA:536467
HP:0002808	Kyphosis	126792	B3GALT6	OMIM:615349
HP:0002808	Kyphosis	84631	SLITRK2	OMIM:301107
HP:0002808	Kyphosis	89970	RSPRY1	ORPHA:457395
HP:0002808	Kyphosis	80208	SPG11	OMIM:616668
HP:0002808	Kyphosis	138050	HGSNAT	OMIM:252930
HP:0002808	Kyphosis	10269	ZMPSTE24	OMIM:275210
HP:0002808	Kyphosis	7043	TGFB3	OMIM:615582
HP:0002808	Kyphosis	4137	MAPT	OMIM:260540
HP:0002808	Kyphosis	523	ATP6V1A	OMIM:617403
HP:0002808	Kyphosis	529	ATP6V1E1	OMIM:617402
HP:0002808	Kyphosis	26123	TCTN3	OMIM:614815
HP:0002808	Kyphosis	8517	IKBKG	OMIM:308300
HP:0002808	Kyphosis	9898	UBAP2L	OMIM:620494
HP:0002808	Kyphosis	246329	STAC3	OMIM:255995
HP:0002808	Kyphosis	673	BRAF	OMIM:163950
HP:0002808	Kyphosis	5604	MAP2K1	OMIM:163950
HP:0002808	Kyphosis	2137	EXTL3	ORPHA:508533
HP:0002808	Kyphosis	875	CBS	ORPHA:394
HP:0002808	Kyphosis	6910	TBX5	ORPHA:392
HP:0002808	Kyphosis	8294	H4C9	OMIM:619951
HP:0002808	Kyphosis	3145	HMBS	OMIM:620704
HP:0002808	Kyphosis	1161	ERCC8	ORPHA:90324
HP:0002808	Kyphosis	1161	ERCC8	ORPHA:90322
HP:0002808	Kyphosis	1161	ERCC8	OMIM:216400
HP:0002808	Kyphosis	2074	ERCC6	ORPHA:90324
HP:0002808	Kyphosis	2074	ERCC6	ORPHA:90322
HP:0002808	Kyphosis	2074	ERCC6	OMIM:133540
HP:0002808	Kyphosis	9927	MFN2	OMIM:151800
HP:0002808	Kyphosis	9927	MFN2	OMIM:617087
HP:0002808	Kyphosis	6938	TCF12	OMIM:619718
HP:0002808	Kyphosis	9820	CUL7	ORPHA:2616
HP:0002808	Kyphosis	23363	OBSL1	ORPHA:2616
HP:0002808	Kyphosis	83987	CCDC8	ORPHA:2616
HP:0002808	Kyphosis	10973	ASCC3	OMIM:620700
HP:0002808	Kyphosis	81857	MED25	OMIM:616449
HP:0002808	Kyphosis	81857	MED25	ORPHA:464738
HP:0002808	Kyphosis	538	ATP7A	OMIM:304150
HP:0002808	Kyphosis	538	ATP7A	ORPHA:198
HP:0002808	Kyphosis	2067	ERCC1	ORPHA:90322
HP:0002808	Kyphosis	55209	SETD5	ORPHA:404440
HP:0002808	Kyphosis	55209	SETD5	OMIM:615761
HP:0002808	Kyphosis	5631	PRPS1	ORPHA:99014
HP:0002808	Kyphosis	6662	SOX9	ORPHA:140
HP:0002808	Kyphosis	267010	RNU12	OMIM:603116
HP:0002808	Kyphosis	267010	RNU12	ORPHA:85199
HP:0002808	Kyphosis	526	ATP6V1B2	OMIM:616455
HP:0002808	Kyphosis	55904	KMT2E	OMIM:618512
HP:0002808	Kyphosis	64175	P3H1	OMIM:610915
HP:0002808	Kyphosis	84572	GNPTG	OMIM:252605
HP:0002808	Kyphosis	137492	VPS37A	ORPHA:319199
HP:0002808	Kyphosis	137492	VPS37A	OMIM:614898
HP:0002808	Kyphosis	79147	FKRP	OMIM:606612
HP:0002808	Kyphosis	79147	FKRP	OMIM:607155
HP:0002808	Kyphosis	284058	KANSL1	ORPHA:363958
HP:0002808	Kyphosis	284058	KANSL1	OMIM:610443
HP:0002808	Kyphosis	284058	KANSL1	ORPHA:363965
HP:0002808	Kyphosis	9469	CHST3	OMIM:143095
HP:0002808	Kyphosis	1293	COL6A3	OMIM:620726
HP:0002808	Kyphosis	1293	COL6A3	ORPHA:75840
HP:0002808	Kyphosis	1292	COL6A2	OMIM:620727
HP:0002808	Kyphosis	1292	COL6A2	ORPHA:75840
HP:0002808	Kyphosis	3064	HTT	OMIM:617435
HP:0002808	Kyphosis	2261	FGFR3	ORPHA:1860
HP:0002808	Kyphosis	2261	FGFR3	OMIM:616482
HP:0002808	Kyphosis	2261	FGFR3	ORPHA:15
HP:0002808	Kyphosis	2261	FGFR3	ORPHA:93274
HP:0002808	Kyphosis	64359	NXN	ORPHA:1507
HP:0002808	Kyphosis	4920	ROR2	ORPHA:1507
HP:0002808	Kyphosis	4323	MMP14	OMIM:277950
HP:0002808	Kyphosis	59341	TRPV4	OMIM:113500
HP:0002808	Kyphosis	59341	TRPV4	OMIM:600175
HP:0002808	Kyphosis	59341	TRPV4	OMIM:181405
HP:0002808	Kyphosis	59341	TRPV4	OMIM:156530
HP:0002808	Kyphosis	59341	TRPV4	OMIM:168400
HP:0002808	Kyphosis	59341	TRPV4	ORPHA:93314
HP:0002808	Kyphosis	59341	TRPV4	ORPHA:2635
HP:0002808	Kyphosis	7020	TFAP2A	OMIM:113620
HP:0002808	Kyphosis	10815	CPLX1	ORPHA:280
HP:0002808	Kyphosis	10815	CPLX1	OMIM:194190
HP:0002808	Kyphosis	54872	PIGG	ORPHA:280
HP:0002808	Kyphosis	7469	NELFA	ORPHA:280
HP:0002808	Kyphosis	1487	CTBP1	ORPHA:280
HP:0002808	Kyphosis	1487	CTBP1	OMIM:194190
HP:0002808	Kyphosis	3954	LETM1	ORPHA:280
HP:0002808	Kyphosis	3954	LETM1	OMIM:194190
HP:0002808	Kyphosis	7468	NSD2	ORPHA:280
HP:0002808	Kyphosis	7468	NSD2	OMIM:194190
HP:0002808	Kyphosis	1303	COL12A1	OMIM:616471
HP:0002808	Kyphosis	1303	COL12A1	ORPHA:75840
HP:0002808	Kyphosis	1303	COL12A1	ORPHA:536516
HP:0002808	Kyphosis	5424	POLD1	OMIM:615381
HP:0002808	Kyphosis	7471	WNT1	ORPHA:85193
HP:0002808	Kyphosis	22943	DKK1	ORPHA:85193
HP:0002808	Kyphosis	89780	WNT3A	ORPHA:85193
HP:0002808	Kyphosis	200734	SPRED2	OMIM:619745
HP:0002808	Kyphosis	3782	KCNN3	OMIM:618658
HP:0002808	Kyphosis	79158	GNPTAB	OMIM:252600
HP:0002808	Kyphosis	79158	GNPTAB	ORPHA:576
HP:0002808	Kyphosis	54	ACP5	ORPHA:1855
HP:0002808	Kyphosis	5373	PMM2	OMIM:212065
HP:0002808	Kyphosis	9131	AIFM1	ORPHA:101078
HP:0002808	Kyphosis	595	CCND1	ORPHA:29073
HP:0002808	Kyphosis	57680	CHD8	OMIM:615032
HP:0002808	Kyphosis	5590	PRKCZ	ORPHA:1606
HP:0002808	Kyphosis	2563	GABRD	ORPHA:1606
HP:0002808	Kyphosis	23013	SPEN	ORPHA:1606
HP:0002808	Kyphosis	8510	MMP23B	ORPHA:1606
HP:0002808	Kyphosis	7798	LUZP1	ORPHA:1606
HP:0002808	Kyphosis	6497	SKI	ORPHA:1606
HP:0002808	Kyphosis	10630	PDPN	ORPHA:1606
HP:0002808	Kyphosis	3339	HSPG2	ORPHA:1606
HP:0002808	Kyphosis	3339	HSPG2	ORPHA:800
HP:0002808	Kyphosis	10277	UBE4B	ORPHA:1606
HP:0002808	Kyphosis	8514	KCNAB2	ORPHA:1606
HP:0002808	Kyphosis	473	RERE	ORPHA:1606
HP:0002808	Kyphosis	63976	PRDM16	ORPHA:1606
HP:0002808	Kyphosis	54897	CASZ1	ORPHA:1606
HP:0002808	Kyphosis	2705	GJB1	ORPHA:101075
HP:0002808	Kyphosis	1859	DYRK1A	ORPHA:464311
HP:0002808	Kyphosis	1859	DYRK1A	ORPHA:268261
HP:0002808	Kyphosis	2517	FUCA1	ORPHA:349
HP:0002808	Kyphosis	1311	COMP	OMIM:177170
HP:0002808	Kyphosis	56052	ALG1	ORPHA:79327
HP:0002808	Kyphosis	4247	MGAT2	ORPHA:79329
HP:0002808	Kyphosis	26137	ZBTB20	OMIM:259050
HP:0002808	Kyphosis	26137	ZBTB20	ORPHA:3042
HP:0002808	Kyphosis	2720	GLB1	OMIM:230650
HP:0002808	Kyphosis	2720	GLB1	OMIM:230500
HP:0002808	Kyphosis	2720	GLB1	OMIM:253010
HP:0002808	Kyphosis	57466	SCAF4	OMIM:620511
HP:0002808	Kyphosis	124583	CANT1	OMIM:251450
HP:0002808	Kyphosis	23299	BICD2	OMIM:615290
HP:0002808	Kyphosis	23299	BICD2	OMIM:618291
HP:0002808	Kyphosis	3835	KIF22	OMIM:603546
HP:0002808	Kyphosis	3835	KIF22	ORPHA:93360
HP:0002808	Kyphosis	23162	MAPK8IP3	OMIM:618443
HP:0002808	Kyphosis	6843	VAMP1	OMIM:618323
HP:0002808	Kyphosis	3423	IDS	OMIM:309900
HP:0002808	Kyphosis	3930	LBR	OMIM:169400
HP:0002808	Kyphosis	3930	LBR	OMIM:618019
HP:0002808	Kyphosis	9896	FIG4	OMIM:216340
HP:0002808	Kyphosis	26100	WIPI2	OMIM:618453
HP:0002808	Kyphosis	4212	MEIS2	ORPHA:261190
HP:0002808	Kyphosis	27145	FILIP1	OMIM:620775
HP:0002808	Kyphosis	8925	HERC1	OMIM:617011
HP:0002808	Kyphosis	8925	HERC1	ORPHA:457359
HP:0002808	Kyphosis	6909	TBX2	OMIM:618223
HP:0002808	Kyphosis	1291	COL6A1	OMIM:254090
HP:0002808	Kyphosis	1291	COL6A1	OMIM:158810
HP:0002808	Kyphosis	1291	COL6A1	ORPHA:75840
HP:0002808	Kyphosis	9759	HDAC4	OMIM:619797
HP:0002808	Kyphosis	23345	SYNE1	ORPHA:88644
HP:0002808	Kyphosis	23345	SYNE1	OMIM:610743
HP:0002808	Kyphosis	23345	SYNE1	OMIM:618484
HP:0002808	Kyphosis	23345	SYNE1	ORPHA:98853
HP:0002808	Kyphosis	55628	ZNF407	OMIM:619557
HP:0002808	Kyphosis	2778	GNAS	OMIM:219080
HP:0002808	Kyphosis	3081	HGD	OMIM:203500
HP:0002808	Kyphosis	84320	ACBD6	OMIM:620785
HP:0002808	Kyphosis	1277	COL1A1	OMIM:259420
HP:0002808	Kyphosis	1277	COL1A1	OMIM:130060
HP:0002808	Kyphosis	1277	COL1A1	OMIM:166220
HP:0002808	Kyphosis	1278	COL1A2	OMIM:259420
HP:0002808	Kyphosis	1278	COL1A2	OMIM:166220
HP:0002808	Kyphosis	1278	COL1A2	OMIM:617821
HP:0002808	Kyphosis	100033413	SNORD116-1	OMIM:176270
HP:0002808	Kyphosis	8924	HERC2	OMIM:176270
HP:0002808	Kyphosis	23742	NPAP1	OMIM:176270
HP:0002808	Kyphosis	338433	SNORD115-1	OMIM:176270
HP:0002808	Kyphosis	54551	MAGEL2	OMIM:176270
HP:0002808	Kyphosis	54551	MAGEL2	ORPHA:398069
HP:0002808	Kyphosis	54551	MAGEL2	OMIM:615547
HP:0002808	Kyphosis	7681	MKRN3	OMIM:176270
HP:0002808	Kyphosis	145624	PWAR1	OMIM:176270
HP:0002808	Kyphosis	3653	IPW	OMIM:176270
HP:0002808	Kyphosis	791114	PWRN1	OMIM:176270
HP:0002808	Kyphosis	6792	CDKL5	ORPHA:3095
HP:0002808	Kyphosis	6792	CDKL5	ORPHA:505652
HP:0002808	Kyphosis	22854	NTNG1	ORPHA:3095
HP:0002808	Kyphosis	9568	GABBR2	ORPHA:3095
HP:0002808	Kyphosis	4204	MECP2	ORPHA:3095
HP:0002808	Kyphosis	4204	MECP2	OMIM:312750
HP:0002808	Kyphosis	8243	SMC1A	ORPHA:3095
HP:0002808	Kyphosis	60482	SLC5A7	OMIM:617143
HP:0002808	Kyphosis	51103	NDUFAF1	OMIM:618234
HP:0002808	Kyphosis	1436	CSF1R	OMIM:618476
HP:0002808	Kyphosis	9871	SEC24D	OMIM:616294
HP:0002808	Kyphosis	9871	SEC24D	ORPHA:2050
HP:0002808	Kyphosis	92667	MGME1	OMIM:615084
HP:0002808	Kyphosis	92667	MGME1	ORPHA:352447
HP:0002808	Kyphosis	6651	SON	OMIM:617140
HP:0002808	Kyphosis	29078	NDUFAF4	OMIM:618237
HP:0002808	Kyphosis	4041	LRP5	OMIM:259770
HP:0002808	Kyphosis	4952	OCRL	ORPHA:534
HP:0002808	Kyphosis	4952	OCRL	OMIM:309000
HP:0002808	Kyphosis	4784	NFIX	OMIM:602535
HP:0002808	Kyphosis	28982	FLVCR1	ORPHA:88628
HP:0002808	Kyphosis	8888	MCM3AP	OMIM:618124
HP:0002808	Kyphosis	1280	COL2A1	ORPHA:94068
HP:0002808	Kyphosis	1280	COL2A1	OMIM:183900
HP:0002808	Kyphosis	1280	COL2A1	OMIM:271700
HP:0002808	Kyphosis	1280	COL2A1	OMIM:108300
HP:0002808	Kyphosis	11145	PLAAT3	OMIM:620683
HP:0002808	Kyphosis	8260	NAA10	ORPHA:568
HP:0002808	Kyphosis	54880	BCOR	ORPHA:568
HP:0002808	Kyphosis	10483	SEC23B	ORPHA:201
HP:0002808	Kyphosis	5728	PTEN	ORPHA:201
HP:0002808	Kyphosis	5728	PTEN	OMIM:158350
HP:0002808	Kyphosis	6390	SDHB	ORPHA:201
HP:0002808	Kyphosis	6392	SDHD	ORPHA:201
HP:0002808	Kyphosis	6391	SDHC	ORPHA:201
HP:0002808	Kyphosis	207	AKT1	ORPHA:201
HP:0002808	Kyphosis	207	AKT1	ORPHA:744
HP:0002808	Kyphosis	207	AKT1	OMIM:615109
HP:0002808	Kyphosis	205717	USF3	ORPHA:201
HP:0002808	Kyphosis	5290	PIK3CA	ORPHA:201
HP:0002808	Kyphosis	5290	PIK3CA	OMIM:615108
HP:0002808	Kyphosis	100144748	KLLN	ORPHA:201
HP:0002808	Kyphosis	25942	SIN3A	ORPHA:94065
HP:0002808	Kyphosis	54681	P4HTM	OMIM:618493
HP:0002808	Kyphosis	3908	LAMA2	OMIM:618138
HP:0002808	Kyphosis	9049	AIP	OMIM:219090
HP:0002808	Kyphosis	9049	AIP	ORPHA:963
HP:0002808	Kyphosis	9101	USP8	OMIM:219090
HP:0002808	Kyphosis	4763	NF1	ORPHA:97685
HP:0002808	Kyphosis	4763	NF1	OMIM:162200
HP:0002808	Kyphosis	6874	TAF4	OMIM:620450
HP:0002808	Kyphosis	6611	SMS	ORPHA:3063
HP:0002808	Kyphosis	50814	NSDHL	OMIM:300831
HP:0002808	Kyphosis	2290	FOXG1	ORPHA:261144
HP:0002808	Kyphosis	2290	FOXG1	OMIM:613454
HP:0002808	Kyphosis	10526	IPO8	OMIM:619472
HP:0002808	Kyphosis	2892	GRIA3	ORPHA:364028
HP:0002808	Kyphosis	6711	SPTBN1	OMIM:619475
HP:0002808	Kyphosis	285590	SH3PXD2B	ORPHA:137834
HP:0002808	Kyphosis	285590	SH3PXD2B	OMIM:249420
HP:0002808	Kyphosis	1836	SLC26A2	ORPHA:628
HP:0002808	Kyphosis	63895	PIEZO2	OMIM:108145
HP:0002808	Kyphosis	63895	PIEZO2	OMIM:248700
HP:0002808	Kyphosis	63895	PIEZO2	ORPHA:2461
HP:0002808	Kyphosis	8720	MBTPS1	OMIM:618392
HP:0002808	Kyphosis	10682	EBP	OMIM:300960
HP:0002808	Kyphosis	10682	EBP	ORPHA:401973
HP:0002808	Kyphosis	4927	NUP88	OMIM:618393
HP:0002808	Kyphosis	23405	DICER1	OMIM:618272
HP:0002808	Kyphosis	283446	MYO1H	OMIM:619482
HP:0002808	Kyphosis	7204	TRIO	OMIM:617061
HP:0002808	Kyphosis	7204	TRIO	ORPHA:476126
HP:0002808	Kyphosis	6872	TAF1	OMIM:300966
HP:0002808	Kyphosis	4841	NONO	OMIM:300967
HP:0002808	Kyphosis	8567	MADD	OMIM:619005
HP:0002808	Kyphosis	57477	SHROOM4	ORPHA:85288
HP:0002808	Kyphosis	29123	ANKRD11	ORPHA:261250
HP:0002808	Kyphosis	91875	TTC5	OMIM:619244
HP:0002808	Kyphosis	90416	CCDC32	OMIM:619123
HP:0002808	Kyphosis	2273	FHL1	OMIM:300718
HP:0002808	Kyphosis	2273	FHL1	ORPHA:98863
HP:0002808	Kyphosis	2273	FHL1	OMIM:300280
HP:0002808	Kyphosis	79152	FA2H	ORPHA:171629
HP:0002808	Kyphosis	9373	PLAA	ORPHA:521426
HP:0002808	Kyphosis	9373	PLAA	OMIM:617527
HP:0002808	Kyphosis	8450	CUL4B	ORPHA:85293
HP:0002808	Kyphosis	8450	CUL4B	OMIM:300354
HP:0002808	Kyphosis	60681	FKBP10	OMIM:259450
HP:0002808	Kyphosis	60681	FKBP10	ORPHA:2771
HP:0002808	Kyphosis	6329	SCN4A	OMIM:620351
HP:0002808	Kyphosis	55252	ASXL2	OMIM:617190
HP:0002808	Kyphosis	84295	PHF6	OMIM:301900
HP:0002808	Kyphosis	1315	COPB1	OMIM:619255
HP:0002808	Kyphosis	2733	GLE1	OMIM:611890
HP:0002808	Kyphosis	203190	LGI3	OMIM:620007
HP:0002808	Kyphosis	5479	PPIB	OMIM:259440
HP:0002808	Kyphosis	5727	PTCH1	ORPHA:77301
HP:0002808	Kyphosis	9897	WASHC5	ORPHA:7
HP:0002808	Kyphosis	28952	CCDC22	ORPHA:7
HP:0002808	Kyphosis	57020	VPS35L	ORPHA:7
HP:0002808	Kyphosis	56896	DPYSL5	ORPHA:7
HP:0002808	Kyphosis	11011	TLK2	OMIM:618050
HP:0002808	Kyphosis	1513	CTSK	ORPHA:763
HP:0002808	Kyphosis	79644	SRD5A3	ORPHA:324737
HP:0002808	Kyphosis	83550	GPR101	OMIM:300942
HP:0002808	Kyphosis	83550	GPR101	ORPHA:963
HP:0002808	Kyphosis	3708	ITPR1	OMIM:206700
HP:0002808	Kyphosis	64374	SIL1	OMIM:248800
HP:0002808	Kyphosis	25970	SH2B1	ORPHA:261222
HP:0002808	Kyphosis	10491	CRTAP	ORPHA:2050
HP:0002808	Kyphosis	5034	P4HB	ORPHA:2050
HP:0002808	Kyphosis	652	BMP4	ORPHA:828
HP:0002808	Kyphosis	64324	NSD1	ORPHA:821
HP:0002808	Kyphosis	10297	APC2	ORPHA:821
HP:0002808	Kyphosis	6840	SVIL	OMIM:619040
HP:0002808	Kyphosis	58	ACTA1	ORPHA:171436
HP:0002808	Kyphosis	7169	TPM2	ORPHA:171436
HP:0002808	Kyphosis	4703	NEB	ORPHA:171436
HP:0002808	Kyphosis	10324	KLHL41	ORPHA:171436
HP:0002808	Kyphosis	56203	LMOD3	ORPHA:171436
HP:0002808	Kyphosis	1073	CFL2	ORPHA:171436
HP:0002808	Kyphosis	50940	PDE11A	OMIM:610475
HP:0002808	Kyphosis	224	ALDH3A2	ORPHA:816
HP:0002808	Kyphosis	1717	DHCR7	ORPHA:818
HP:0002808	Kyphosis	4758	NEU1	ORPHA:812
HP:0002808	Kyphosis	6197	RPS6KA3	OMIM:303600
HP:0002808	Kyphosis	6197	RPS6KA3	ORPHA:276630
HP:0002808	Kyphosis	6197	RPS6KA3	ORPHA:192
HP:0002808	Kyphosis	1146	CHRNG	OMIM:265000
HP:0002808	Kyphosis	51360	MBTPS2	ORPHA:2273
HP:0002808	Kyphosis	57492	ARID1B	OMIM:135900
HP:0002808	Kyphosis	274	BIN1	OMIM:255200
HP:0002808	Kyphosis	5573	PRKAR1A	OMIM:610489
HP:0002808	Kyphosis	7840	ALMS1	OMIM:203800
HP:0002808	Kyphosis	7840	ALMS1	ORPHA:64
HP:0002808	Kyphosis	3106	HLA-B	OMIM:106300
HP:0002808	Kyphosis	57531	HACE1	ORPHA:464282
HP:0002808	Kyphosis	57531	HACE1	OMIM:616756
HP:0002808	Kyphosis	633	BGN	OMIM:300106
HP:0002808	Kyphosis	860	RUNX2	OMIM:119600
HP:0002808	Kyphosis	26053	AUTS2	ORPHA:352490
HP:0002808	Kyphosis	26053	AUTS2	OMIM:615834
HP:0002808	Kyphosis	79813	EHMT1	OMIM:610253
HP:0002808	Kyphosis	23545	ATP6V0A2	OMIM:278250
HP:0002808	Kyphosis	6399	TRAPPC2	OMIM:313400
HP:0002808	Kyphosis	11160	ERLIN2	OMIM:611225
HP:0002808	Kyphosis	3425	IDUA	OMIM:607014
HP:0002808	Kyphosis	3425	IDUA	OMIM:607015
HP:0002808	Kyphosis	53834	FGFRL1	OMIM:194190
HP:0002808	Kyphosis	4853	NOTCH2	ORPHA:955
HP:0002808	Kyphosis	113278	SLC52A3	OMIM:211530
HP:0002808	Kyphosis	2200	FBN1	OMIM:616914
HP:0002808	Kyphosis	165	AEBP1	ORPHA:536532
HP:0002808	Kyphosis	9653	HS2ST1	OMIM:619194
HP:0002808	Kyphosis	65109	UPF3B	OMIM:300676
HP:0002808	Kyphosis	60	ACTB	ORPHA:64755
HP:0002808	Kyphosis	60	ACTB	ORPHA:79107
HP:0002808	Kyphosis	6804	STX1A	ORPHA:904
HP:0002808	Kyphosis	7461	CLIP2	ORPHA:904
HP:0002808	Kyphosis	84277	DNAJC30	ORPHA:904
HP:0002808	Kyphosis	8468	FKBP6	ORPHA:904
HP:0002808	Kyphosis	5982	RFC2	ORPHA:904
HP:0002808	Kyphosis	2969	GTF2I	ORPHA:904
HP:0002808	Kyphosis	3984	LIMK1	ORPHA:904
HP:0002808	Kyphosis	9569	GTF2IRD1	ORPHA:904
HP:0002808	Kyphosis	155382	VPS37D	ORPHA:904
HP:0002808	Kyphosis	155368	METTL27	ORPHA:904
HP:0002808	Kyphosis	114049	BUD23	ORPHA:904
HP:0002808	Kyphosis	7458	EIF4H	ORPHA:904
HP:0002808	Kyphosis	84163	GTF2IRD2	ORPHA:904
HP:0002808	Kyphosis	26608	TBL2	ORPHA:904
HP:0002808	Kyphosis	653361	NCF1	ORPHA:904
HP:0002808	Kyphosis	135886	TMEM270	ORPHA:904
HP:0002808	Kyphosis	9031	BAZ1B	ORPHA:904
HP:0002808	Kyphosis	2006	ELN	ORPHA:904
HP:0002808	Kyphosis	64837	KLC2	OMIM:609541
HP:0002808	Kyphosis	23137	SMC5	OMIM:620185
HP:0002808	Kyphosis	6628	SNRPB	ORPHA:1393
HP:0002808	Kyphosis	4089	SMAD4	OMIM:139210
HP:0002808	Kyphosis	368	ABCC6	OMIM:177850
HP:0002808	Kyphosis	55906	ZC4H2	ORPHA:3454
HP:0002808	Kyphosis	55906	ZC4H2	OMIM:301041
HP:0002808	Kyphosis	55906	ZC4H2	OMIM:314580
HP:0002808	Kyphosis	55325	UFSP2	ORPHA:2114
HP:0002808	Kyphosis	2146	EZH2	OMIM:277590
HP:0002808	Kyphosis	57704	GBA2	OMIM:614409
HP:0002808	Kyphosis	4882	NPR2	ORPHA:40
HP:0002808	Kyphosis	80324	PUS1	ORPHA:2598
HP:0002808	Kyphosis	51067	YARS2	ORPHA:2598
HP:0002808	Kyphosis	2010	EMD	ORPHA:98863
HP:0002808	Kyphosis	2303	FOXC2	OMIM:153400
HP:0002808	Kyphosis	10664	CTCF	OMIM:615502
HP:0002808	Kyphosis	4000	LMNA	ORPHA:98855
HP:0002808	Kyphosis	4000	LMNA	ORPHA:98853
HP:0002808	Kyphosis	1861	TOR1A	OMIM:128100
HP:0002808	Kyphosis	79188	TMEM43	ORPHA:98853
HP:0002808	Kyphosis	23224	SYNE2	ORPHA:98853
HP:0002808	Kyphosis	5979	RET	OMIM:162300
HP:0002808	Kyphosis	54808	DYM	OMIM:607326
HP:0002808	Kyphosis	54808	DYM	OMIM:223800
HP:0002808	Kyphosis	7167	TPI1	OMIM:615512
HP:0002808	Kyphosis	79796	ALG9	OMIM:608776
HP:0002808	Kyphosis	546	ATRX	OMIM:301040
HP:0002808	Kyphosis	4854	NOTCH3	OMIM:130720
HP:0002808	Kyphosis	4854	NOTCH3	ORPHA:2789
HP:0002808	Kyphosis	3897	L1CAM	OMIM:303350
HP:0002808	Kyphosis	134701	RIPPLY2	ORPHA:2311
HP:0002808	Kyphosis	10683	DLL3	ORPHA:2311
HP:0002808	Kyphosis	3955	LFNG	ORPHA:2311
HP:0002808	Kyphosis	3955	LFNG	OMIM:609813
HP:0002808	Kyphosis	84667	HES7	ORPHA:2311
HP:0002808	Kyphosis	145873	MESP2	ORPHA:2311
HP:0002808	Kyphosis	4982	TNFRSF11B	OMIM:239000
HP:0002808	Kyphosis	25	ABL1	OMIM:617602
HP:0002808	Kyphosis	175	AGA	OMIM:208400
HP:0002808	Kyphosis	59336	PRDM13	OMIM:619909
HP:0002808	Kyphosis	7874	USP7	ORPHA:500055
HP:0002808	Kyphosis	157680	VPS13B	ORPHA:193
HP:0002808	Kyphosis	9150	CTDP1	ORPHA:48431
HP:0002808	Kyphosis	2588	GALNS	OMIM:253000
HP:0002808	Kyphosis	9791	PTDSS1	ORPHA:2658
HP:0002808	Kyphosis	5352	PLOD2	ORPHA:2771
HP:0002808	Kyphosis	7040	TGFB1	ORPHA:1328
HP:0002808	Kyphosis	7343	UBTF	ORPHA:500180
HP:0002808	Kyphosis	1857	DVL3	OMIM:616894
HP:0002808	Kyphosis	54676	GTPBP2	OMIM:617988
HP:0002808	Kyphosis	5296	PIK3R2	OMIM:603387
HP:0002808	Kyphosis	2990	GUSB	OMIM:253220
HP:0002808	Kyphosis	22930	RAB3GAP1	ORPHA:2510
HP:0002808	Kyphosis	25782	RAB3GAP2	ORPHA:2510
HP:0002808	Kyphosis	22931	RAB18	ORPHA:2510
HP:0002808	Kyphosis	128637	TBC1D20	ORPHA:2510
HP:0002808	Kyphosis	23529	CLCF1	ORPHA:1545
HP:0002808	Kyphosis	9244	CRLF1	ORPHA:1545
HP:0002808	Kyphosis	9203	ZMYM3	OMIM:301111
HP:0002808	Kyphosis	64221	ROBO3	ORPHA:2744
HP:0002808	Kyphosis	1630	DCC	ORPHA:2744
HP:0002808	Kyphosis	51763	INPP5K	OMIM:617404
HP:0002808	Kyphosis	58508	KMT2C	OMIM:617768
HP:0002808	Kyphosis	5297	PI4KA	OMIM:619708
HP:0002808	Kyphosis	22827	PUF60	ORPHA:508498
HP:0002808	Kyphosis	65082	VPS33A	ORPHA:505248
HP:0002808	Kyphosis	4677	NARS1	OMIM:619092
HP:0002808	Kyphosis	5286	PIK3C2A	OMIM:618440
HP:0002808	Kyphosis	5286	PIK3C2A	ORPHA:557003
HP:0002808	Kyphosis	124997	WDR81	OMIM:610185
HP:0002808	Kyphosis	1593	CYP27A1	ORPHA:909
HP:0002808	Kyphosis	5593	PRKG2	OMIM:619638
HP:0002808	Kyphosis	170689	ADAMTS15	OMIM:620545
HP:0002808	Kyphosis	404672	GTF2H5	ORPHA:33364
HP:0002808	Kyphosis	833	CARS1	ORPHA:33364
HP:0002808	Kyphosis	7737	RNF113A	ORPHA:33364
HP:0002808	Kyphosis	136647	MPLKIP	ORPHA:33364
HP:0002808	Kyphosis	6897	TARS1	ORPHA:33364
HP:0002808	Kyphosis	16	AARS1	ORPHA:33364
HP:0002808	Kyphosis	2071	ERCC3	ORPHA:33364
HP:0002808	Kyphosis	2961	GTF2E2	ORPHA:33364
HP:0002808	Kyphosis	23133	PHF8	OMIM:300263
HP:0002808	Kyphosis	164	AP1G1	OMIM:619467
HP:0002808	Kyphosis	6023	RMRP	OMIM:607095
HP:0002808	Kyphosis	64132	XYLT2	ORPHA:85194
HP:0002808	Kyphosis	50485	SMARCAL1	OMIM:242900
HP:0002808	Kyphosis	1756	DMD	ORPHA:206546
HP:0002808	Kyphosis	283450	HECTD4	OMIM:620250
HP:0002808	Kyphosis	2317	FLNB	OMIM:150250
HP:0002808	Kyphosis	2317	FLNB	OMIM:108721
HP:0002808	Kyphosis	415	ARSL	ORPHA:79345
HP:0002808	Kyphosis	1009	CDH11	ORPHA:1299
HP:0002808	Kyphosis	25871	NEPRO	OMIM:618853
HP:0002808	Kyphosis	10940	POP1	OMIM:617396
HP:0002808	Kyphosis	8022	LHX3	ORPHA:231720
HP:0002808	Kyphosis	10533	ATG7	OMIM:619422
HP:0002808	Kyphosis	139285	AMER1	OMIM:300373
HP:0002808	Kyphosis	116931	MED12L	OMIM:618872
HP:0002808	Kyphosis	2629	GBA1	ORPHA:2072
HP:0002808	Kyphosis	4125	MAN2B1	OMIM:248500
HP:0002808	Kyphosis	23219	FBXO28	OMIM:619777
HP:0008479	Hypoplastic vertebral bodies	79848	CSPP1	ORPHA:397715
HP:0008479	Hypoplastic vertebral bodies	9786	KIAA0586	ORPHA:397715
HP:0008479	Hypoplastic vertebral bodies	90	ACVR1	OMIM:135100
HP:0008479	Hypoplastic vertebral bodies	3930	LBR	OMIM:215140
HP:0008479	Hypoplastic vertebral bodies	3636	INPPL1	OMIM:258480
HP:0008479	Hypoplastic vertebral bodies	3636	INPPL1	ORPHA:2746
HP:0008479	Hypoplastic vertebral bodies	3636	INPPL1	ORPHA:3144
HP:0008479	Hypoplastic vertebral bodies	60561	RINT1	OMIM:618641
HP:0008479	Hypoplastic vertebral bodies	2720	GLB1	OMIM:230500
HP:0008479	Hypoplastic vertebral bodies	2720	GLB1	OMIM:230600
HP:0008479	Hypoplastic vertebral bodies	2720	GLB1	ORPHA:79255
HP:0008479	Hypoplastic vertebral bodies	10312	TCIRG1	ORPHA:1782
HP:0008479	Hypoplastic vertebral bodies	55315	SLC29A3	ORPHA:1782
HP:0008479	Hypoplastic vertebral bodies	8792	TNFRSF11A	ORPHA:1782
HP:0008479	Hypoplastic vertebral bodies	5573	PRKAR1A	OMIM:101800
HP:0008479	Hypoplastic vertebral bodies	23169	SLC35D1	ORPHA:3144
HP:0008479	Hypoplastic vertebral bodies	2799	GNS	OMIM:252940
HP:0008479	Hypoplastic vertebral bodies	11128	POLR3A	ORPHA:3455
HP:0008479	Hypoplastic vertebral bodies	81839	VANGL1	ORPHA:3027
HP:0008479	Hypoplastic vertebral bodies	80199	FUZ	ORPHA:3027
HP:0008479	Hypoplastic vertebral bodies	285362	SUMF1	OMIM:272200
HP:0000939	Osteoporosis	171023	ASXL1	ORPHA:98850
HP:0000939	Osteoporosis	171023	ASXL1	ORPHA:98849
HP:0000939	Osteoporosis	54790	TET2	ORPHA:98850
HP:0000939	Osteoporosis	54790	TET2	ORPHA:98849
HP:0000939	Osteoporosis	867	CBL	ORPHA:98850
HP:0000939	Osteoporosis	861	RUNX1	ORPHA:98850
HP:0000939	Osteoporosis	6427	SRSF2	ORPHA:98850
HP:0000939	Osteoporosis	6427	SRSF2	ORPHA:98849
HP:0000939	Osteoporosis	875	CBS	ORPHA:394
HP:0000939	Osteoporosis	875	CBS	OMIM:236200
HP:0000939	Osteoporosis	83932	SPRTN	OMIM:616200
HP:0000939	Osteoporosis	2100	ESR2	OMIM:618187
HP:0000939	Osteoporosis	8838	CCN6	OMIM:208230
HP:0000939	Osteoporosis	4010	LMX1B	ORPHA:2614
HP:0000939	Osteoporosis	6938	TCF12	OMIM:619718
HP:0000939	Osteoporosis	1593	CYP27A1	OMIM:213700
HP:0000939	Osteoporosis	1593	CYP27A1	ORPHA:909
HP:0000939	Osteoporosis	3815	KIT	ORPHA:98849
HP:0000939	Osteoporosis	118429	ANTXR2	ORPHA:2176
HP:0000939	Osteoporosis	118429	ANTXR2	OMIM:228600
HP:0000939	Osteoporosis	64682	ANAPC1	OMIM:618625
HP:0000939	Osteoporosis	1736	DKC1	OMIM:305000
HP:0000939	Osteoporosis	1736	DKC1	ORPHA:1775
HP:0000939	Osteoporosis	538	ATP7A	OMIM:304150
HP:0000939	Osteoporosis	538	ATP7A	ORPHA:565
HP:0000939	Osteoporosis	538	ATP7A	ORPHA:198
HP:0000939	Osteoporosis	538	ATP7A	OMIM:309400
HP:0000939	Osteoporosis	2542	SLC37A4	OMIM:232220
HP:0000939	Osteoporosis	2542	SLC37A4	OMIM:619525
HP:0000939	Osteoporosis	2542	SLC37A4	ORPHA:79259
HP:0000939	Osteoporosis	80270	HSD3B7	ORPHA:79301
HP:0000939	Osteoporosis	91147	TMEM67	OMIM:602152
HP:0000939	Osteoporosis	9401	RECQL4	OMIM:268400
HP:0000939	Osteoporosis	3909	LAMA3	ORPHA:79404
HP:0000939	Osteoporosis	3918	LAMC2	ORPHA:79404
HP:0000939	Osteoporosis	3914	LAMB3	ORPHA:79404
HP:0000939	Osteoporosis	4784	NFIX	ORPHA:447980
HP:0000939	Osteoporosis	4312	MMP1	ORPHA:79408
HP:0000939	Osteoporosis	1294	COL7A1	ORPHA:79408
HP:0000939	Osteoporosis	79577	CDC73	ORPHA:143
HP:0000939	Osteoporosis	79577	CDC73	ORPHA:99880
HP:0000939	Osteoporosis	65267	WNK3	OMIM:309610
HP:0000939	Osteoporosis	9051	PSTPIP1	OMIM:601979
HP:0000939	Osteoporosis	1528	CYB5A	ORPHA:90796
HP:0000939	Osteoporosis	1586	CYP17A1	ORPHA:90796
HP:0000939	Osteoporosis	4221	MEN1	ORPHA:2965
HP:0000939	Osteoporosis	64072	CDH23	ORPHA:2965
HP:0000939	Osteoporosis	64072	CDH23	ORPHA:96253
HP:0000939	Osteoporosis	64072	CDH23	ORPHA:91347
HP:0000939	Osteoporosis	9049	AIP	ORPHA:2965
HP:0000939	Osteoporosis	9049	AIP	OMIM:219090
HP:0000939	Osteoporosis	4552	MTRR	ORPHA:2169
HP:0000939	Osteoporosis	50940	PDE11A	OMIM:610475
HP:0000939	Osteoporosis	10216	PRG4	ORPHA:2848
HP:0000939	Osteoporosis	7486	WRN	OMIM:277700
HP:0000939	Osteoporosis	7486	WRN	ORPHA:902
HP:0000939	Osteoporosis	26012	NSMF	OMIM:614838
HP:0000939	Osteoporosis	26012	NSMF	ORPHA:432
HP:0000939	Osteoporosis	3764	KCNJ8	ORPHA:1517
HP:0000939	Osteoporosis	10060	ABCC9	ORPHA:1517
HP:0000939	Osteoporosis	10060	ABCC9	OMIM:239850
HP:0000939	Osteoporosis	7015	TERT	OMIM:613989
HP:0000939	Osteoporosis	7015	TERT	OMIM:127550
HP:0000939	Osteoporosis	7015	TERT	ORPHA:1775
HP:0000939	Osteoporosis	57539	WDR35	ORPHA:1515
HP:0000939	Osteoporosis	112752	IFT43	ORPHA:1515
HP:0000939	Osteoporosis	51098	IFT52	ORPHA:1515
HP:0000939	Osteoporosis	55764	IFT122	ORPHA:1515
HP:0000939	Osteoporosis	55764	IFT122	OMIM:218330
HP:0000939	Osteoporosis	57728	WDR19	ORPHA:1515
HP:0000939	Osteoporosis	535	ATP6V0A1	OMIM:619971
HP:0000939	Osteoporosis	2859	GPR35	ORPHA:171
HP:0000939	Osteoporosis	10507	SEMA4D	ORPHA:171
HP:0000939	Osteoporosis	4485	MST1	ORPHA:171
HP:0000939	Osteoporosis	6925	TCF4	ORPHA:171
HP:0000939	Osteoporosis	54453	RIN2	OMIM:613075
HP:0000939	Osteoporosis	26277	TINF2	OMIM:613990
HP:0000939	Osteoporosis	26277	TINF2	OMIM:127550
HP:0000939	Osteoporosis	26277	TINF2	ORPHA:1775
HP:0000939	Osteoporosis	4853	NOTCH2	OMIM:102500
HP:0000939	Osteoporosis	4853	NOTCH2	ORPHA:955
HP:0000939	Osteoporosis	2538	G6PC1	OMIM:232200
HP:0000939	Osteoporosis	93627	TBCK	OMIM:616900
HP:0000939	Osteoporosis	93627	TBCK	ORPHA:488632
HP:0000939	Osteoporosis	5573	PRKAR1A	OMIM:610489
HP:0000939	Osteoporosis	55858	TMEM165	OMIM:614727
HP:0000939	Osteoporosis	3117	HLA-DQA1	OMIM:212750
HP:0000939	Osteoporosis	3119	HLA-DQB1	OMIM:212750
HP:0000939	Osteoporosis	5095	PCCA	OMIM:606054
HP:0000939	Osteoporosis	5096	PCCB	OMIM:606054
HP:0000939	Osteoporosis	4313	MMP2	ORPHA:371428
HP:0000939	Osteoporosis	4313	MMP2	OMIM:259600
HP:0000939	Osteoporosis	4323	MMP14	ORPHA:371428
HP:0000939	Osteoporosis	10815	CPLX1	ORPHA:280
HP:0000939	Osteoporosis	54872	PIGG	ORPHA:280
HP:0000939	Osteoporosis	7469	NELFA	ORPHA:280
HP:0000939	Osteoporosis	1487	CTBP1	ORPHA:280
HP:0000939	Osteoporosis	3954	LETM1	ORPHA:280
HP:0000939	Osteoporosis	7468	NSD2	ORPHA:280
HP:0000939	Osteoporosis	5424	POLD1	OMIM:615381
HP:0000939	Osteoporosis	1848	DUSP6	OMIM:615269
HP:0000939	Osteoporosis	1848	DUSP6	ORPHA:432
HP:0000939	Osteoporosis	2720	GLB1	OMIM:253010
HP:0000939	Osteoporosis	54756	IL17RD	OMIM:615267
HP:0000939	Osteoporosis	2492	FSHR	OMIM:233300
HP:0000939	Osteoporosis	649	BMP1	OMIM:614856
HP:0000939	Osteoporosis	7471	WNT1	ORPHA:85193
HP:0000939	Osteoporosis	22943	DKK1	ORPHA:85193
HP:0000939	Osteoporosis	89780	WNT3A	ORPHA:85193
HP:0000939	Osteoporosis	6662	SOX9	ORPHA:251510
HP:0000939	Osteoporosis	6845	VAMP7	ORPHA:251510
HP:0000939	Osteoporosis	51741	WWOX	ORPHA:251510
HP:0000939	Osteoporosis	4214	MAP3K1	ORPHA:251510
HP:0000939	Osteoporosis	2516	NR5A1	ORPHA:251510
HP:0000939	Osteoporosis	7490	WT1	ORPHA:251510
HP:0000939	Osteoporosis	57647	DHX37	ORPHA:251510
HP:0000939	Osteoporosis	6736	SRY	ORPHA:251510
HP:0000939	Osteoporosis	23414	ZFPM2	ORPHA:251510
HP:0000939	Osteoporosis	190	NR0B1	ORPHA:251510
HP:0000939	Osteoporosis	2626	GATA4	ORPHA:251510
HP:0000939	Osteoporosis	64132	XYLT2	ORPHA:85194
HP:0000939	Osteoporosis	26834	RNU4-2	OMIM:620851
HP:0000939	Osteoporosis	1588	CYP19A1	ORPHA:91
HP:0000939	Osteoporosis	2074	ERCC6	OMIM:214150
HP:0000939	Osteoporosis	2074	ERCC6	OMIM:133540
HP:0000939	Osteoporosis	3043	HBB	ORPHA:232
HP:0000939	Osteoporosis	3043	HBB	ORPHA:231214
HP:0000939	Osteoporosis	3043	HBB	ORPHA:231222
HP:0000939	Osteoporosis	3043	HBB	ORPHA:231226
HP:0000939	Osteoporosis	1798	DPAGT1	ORPHA:86309
HP:0000939	Osteoporosis	9056	SLC7A7	ORPHA:470
HP:0000939	Osteoporosis	9056	SLC7A7	OMIM:222700
HP:0000939	Osteoporosis	55768	NGLY1	OMIM:615273
HP:0000939	Osteoporosis	8822	FGF17	OMIM:615270
HP:0000939	Osteoporosis	8822	FGF17	ORPHA:432
HP:0000939	Osteoporosis	23767	FLRT3	OMIM:615271
HP:0000939	Osteoporosis	51604	PIGT	OMIM:615398
HP:0000939	Osteoporosis	213	ALB	OMIM:616000
HP:0000939	Osteoporosis	5566	PRKACA	OMIM:615830
HP:0000939	Osteoporosis	6135	RPL11	OMIM:612562
HP:0000939	Osteoporosis	79633	FAT4	OMIM:616006
HP:0000939	Osteoporosis	540	ATP7B	ORPHA:905
HP:0000939	Osteoporosis	540	ATP7B	OMIM:277900
HP:0000939	Osteoporosis	6804	STX1A	ORPHA:904
HP:0000939	Osteoporosis	6804	STX1A	ORPHA:586
HP:0000939	Osteoporosis	7461	CLIP2	ORPHA:904
HP:0000939	Osteoporosis	84277	DNAJC30	ORPHA:904
HP:0000939	Osteoporosis	8468	FKBP6	ORPHA:904
HP:0000939	Osteoporosis	5982	RFC2	ORPHA:904
HP:0000939	Osteoporosis	2969	GTF2I	ORPHA:904
HP:0000939	Osteoporosis	3984	LIMK1	ORPHA:904
HP:0000939	Osteoporosis	9569	GTF2IRD1	ORPHA:904
HP:0000939	Osteoporosis	155382	VPS37D	ORPHA:904
HP:0000939	Osteoporosis	155368	METTL27	ORPHA:904
HP:0000939	Osteoporosis	114049	BUD23	ORPHA:904
HP:0000939	Osteoporosis	7458	EIF4H	ORPHA:904
HP:0000939	Osteoporosis	84163	GTF2IRD2	ORPHA:904
HP:0000939	Osteoporosis	26608	TBL2	ORPHA:904
HP:0000939	Osteoporosis	653361	NCF1	ORPHA:904
HP:0000939	Osteoporosis	135886	TMEM270	ORPHA:904
HP:0000939	Osteoporosis	9031	BAZ1B	ORPHA:904
HP:0000939	Osteoporosis	2006	ELN	ORPHA:904
HP:0000939	Osteoporosis	2006	ELN	OMIM:194050
HP:0000939	Osteoporosis	79798	ARMC5	OMIM:615954
HP:0000939	Osteoporosis	79798	ARMC5	ORPHA:189427
HP:0000939	Osteoporosis	5428	POLG	OMIM:203700
HP:0000939	Osteoporosis	5428	POLG	ORPHA:254892
HP:0000939	Osteoporosis	6134	RPL10	ORPHA:459070
HP:0000939	Osteoporosis	6134	RPL10	OMIM:300998
HP:0000939	Osteoporosis	1277	COL1A1	OMIM:166710
HP:0000939	Osteoporosis	1278	COL1A2	OMIM:166710
HP:0000939	Osteoporosis	799	CALCR	OMIM:166710
HP:0000939	Osteoporosis	8572	PDLIM4	OMIM:166710
HP:0000939	Osteoporosis	6609	SMPD1	OMIM:257200
HP:0000939	Osteoporosis	6609	SMPD1	ORPHA:77293
HP:0000939	Osteoporosis	4040	LRP6	OMIM:610947
HP:0000939	Osteoporosis	2947	GSTM3	ORPHA:586
HP:0000939	Osteoporosis	7040	TGFB1	ORPHA:586
HP:0000939	Osteoporosis	2729	GCLC	ORPHA:586
HP:0000939	Osteoporosis	1084	CEACAM3	ORPHA:586
HP:0000939	Osteoporosis	6556	SLC11A1	ORPHA:586
HP:0000939	Osteoporosis	51164	DCTN4	ORPHA:586
HP:0000939	Osteoporosis	3783	KCNN4	ORPHA:586
HP:0000939	Osteoporosis	4282	MIF	ORPHA:586
HP:0000939	Osteoporosis	1909	EDNRA	ORPHA:586
HP:0000939	Osteoporosis	6550	SLC9A3	ORPHA:586
HP:0000939	Osteoporosis	3162	HMOX1	ORPHA:586
HP:0000939	Osteoporosis	115019	SLC26A9	ORPHA:586
HP:0000939	Osteoporosis	3077	HFE	ORPHA:586
HP:0000939	Osteoporosis	3077	HFE	ORPHA:465508
HP:0000939	Osteoporosis	3077	HFE	OMIM:235200
HP:0000939	Osteoporosis	11254	SLC6A14	ORPHA:586
HP:0000939	Osteoporosis	5265	SERPINA1	ORPHA:586
HP:0000939	Osteoporosis	1080	CFTR	ORPHA:586
HP:0000939	Osteoporosis	22802	CLCA4	ORPHA:586
HP:0000939	Osteoporosis	4680	CEACAM6	ORPHA:586
HP:0000939	Osteoporosis	26137	ZBTB20	OMIM:259050
HP:0000939	Osteoporosis	9321	TRIP11	OMIM:184260
HP:0000939	Osteoporosis	8733	GPAA1	ORPHA:529665
HP:0000939	Osteoporosis	5159	PDGFRB	OMIM:601812
HP:0000939	Osteoporosis	4982	TNFRSF11B	ORPHA:2801
HP:0000939	Osteoporosis	4982	TNFRSF11B	OMIM:239000
HP:0000939	Osteoporosis	8792	TNFRSF11A	ORPHA:2801
HP:0000939	Osteoporosis	23028	KDM1A	ORPHA:189427
HP:0000939	Osteoporosis	2778	GNAS	ORPHA:189427
HP:0000939	Osteoporosis	2778	GNAS	OMIM:612463
HP:0000939	Osteoporosis	2778	GNAS	OMIM:612462
HP:0000939	Osteoporosis	2778	GNAS	OMIM:219080
HP:0000939	Osteoporosis	2778	GNAS	OMIM:103580
HP:0000939	Osteoporosis	6714	SRC	OMIM:616937
HP:0000939	Osteoporosis	51085	MLXIPL	OMIM:194050
HP:0000939	Osteoporosis	124583	CANT1	OMIM:251450
HP:0000939	Osteoporosis	11107	PRDM5	ORPHA:90354
HP:0000939	Osteoporosis	84627	ZNF469	ORPHA:90354
HP:0000939	Osteoporosis	6638	SNRPN	ORPHA:98754
HP:0000939	Osteoporosis	6638	SNRPN	ORPHA:177904
HP:0000939	Osteoporosis	6638	SNRPN	ORPHA:177901
HP:0000939	Osteoporosis	4692	NDN	ORPHA:98754
HP:0000939	Osteoporosis	4692	NDN	ORPHA:177904
HP:0000939	Osteoporosis	4692	NDN	ORPHA:177901
HP:0000939	Osteoporosis	54551	MAGEL2	ORPHA:98754
HP:0000939	Osteoporosis	54551	MAGEL2	OMIM:176270
HP:0000939	Osteoporosis	54551	MAGEL2	ORPHA:177904
HP:0000939	Osteoporosis	54551	MAGEL2	ORPHA:177901
HP:0000939	Osteoporosis	54551	MAGEL2	ORPHA:398069
HP:0000939	Osteoporosis	4948	OCA2	ORPHA:98754
HP:0000939	Osteoporosis	4948	OCA2	ORPHA:177904
HP:0000939	Osteoporosis	4948	OCA2	ORPHA:177901
HP:0000939	Osteoporosis	9968	MED12	OMIM:301068
HP:0000939	Osteoporosis	5373	PMM2	ORPHA:79318
HP:0000939	Osteoporosis	5618	PRLR	ORPHA:397685
HP:0000939	Osteoporosis	9394	HS6ST1	OMIM:614880
HP:0000939	Osteoporosis	9394	HS6ST1	ORPHA:432
HP:0000939	Osteoporosis	3977	LIFR	ORPHA:3206
HP:0000939	Osteoporosis	3977	LIFR	OMIM:601559
HP:0000939	Osteoporosis	55275	VPS53	OMIM:615851
HP:0000939	Osteoporosis	4088	SMAD3	OMIM:613795
HP:0000939	Osteoporosis	4088	SMAD3	ORPHA:284984
HP:0000939	Osteoporosis	6611	SMS	OMIM:309583
HP:0000939	Osteoporosis	6611	SMS	ORPHA:3063
HP:0000939	Osteoporosis	654	BMP6	ORPHA:465508
HP:0000939	Osteoporosis	7048	TGFBR2	OMIM:610168
HP:0000939	Osteoporosis	3339	HSPG2	OMIM:255800
HP:0000939	Osteoporosis	3339	HSPG2	ORPHA:800
HP:0000939	Osteoporosis	5836	PYGL	ORPHA:369
HP:0000939	Osteoporosis	55151	TMEM38B	OMIM:615066
HP:0000939	Osteoporosis	5256	PHKA2	ORPHA:264580
HP:0000939	Osteoporosis	5261	PHKG2	ORPHA:264580
HP:0000939	Osteoporosis	93587	TRMT10A	OMIM:616033
HP:0000939	Osteoporosis	10664	CTCF	OMIM:615502
HP:0000939	Osteoporosis	284119	CAVIN1	OMIM:613327
HP:0000939	Osteoporosis	6778	STAT6	OMIM:620532
HP:0000939	Osteoporosis	2629	GBA1	ORPHA:77259
HP:0000939	Osteoporosis	950	SCARB2	ORPHA:77259
HP:0000939	Osteoporosis	6309	SC5D	OMIM:607330
HP:0000939	Osteoporosis	3479	IGF1	ORPHA:73272
HP:0000939	Osteoporosis	291	SLC25A4	ORPHA:254892
HP:0000939	Osteoporosis	56652	TWNK	ORPHA:254892
HP:0000939	Osteoporosis	11232	POLG2	ORPHA:254892
HP:0000939	Osteoporosis	50484	RRM2B	ORPHA:254892
HP:0000939	Osteoporosis	2260	FGFR1	ORPHA:432
HP:0000939	Osteoporosis	81848	SPRY4	ORPHA:432
HP:0000939	Osteoporosis	128674	PROKR2	ORPHA:432
HP:0000939	Osteoporosis	2253	FGF8	ORPHA:432
HP:0000939	Osteoporosis	60675	PROK2	ORPHA:432
HP:0000939	Osteoporosis	60675	PROK2	OMIM:610628
HP:0000939	Osteoporosis	55636	CHD7	ORPHA:432
HP:0000939	Osteoporosis	6870	TACR3	ORPHA:432
HP:0000939	Osteoporosis	55717	WDR11	ORPHA:432
HP:0000939	Osteoporosis	4808	NHLH2	ORPHA:432
HP:0000939	Osteoporosis	2796	GNRH1	ORPHA:432
HP:0000939	Osteoporosis	2798	GNRHR	ORPHA:432
HP:0000939	Osteoporosis	84634	KISS1R	ORPHA:432
HP:0000939	Osteoporosis	6866	TAC3	ORPHA:432
HP:0000939	Osteoporosis	3814	KISS1	ORPHA:432
HP:0000939	Osteoporosis	5351	PLOD1	OMIM:225400
HP:0000939	Osteoporosis	5351	PLOD1	ORPHA:1900
HP:0000939	Osteoporosis	5193	PEX12	OMIM:266510
HP:0000939	Osteoporosis	100033413	SNORD116-1	OMIM:176270
HP:0000939	Osteoporosis	8924	HERC2	OMIM:176270
HP:0000939	Osteoporosis	23742	NPAP1	OMIM:176270
HP:0000939	Osteoporosis	338433	SNORD115-1	OMIM:176270
HP:0000939	Osteoporosis	7681	MKRN3	OMIM:176270
HP:0000939	Osteoporosis	145624	PWAR1	OMIM:176270
HP:0000939	Osteoporosis	3653	IPW	OMIM:176270
HP:0000939	Osteoporosis	791114	PWRN1	OMIM:176270
HP:0000939	Osteoporosis	2099	ESR1	ORPHA:785
HP:0000939	Osteoporosis	51103	NDUFAF1	OMIM:618234
HP:0000939	Osteoporosis	6492	SIM1	ORPHA:398079
HP:0000939	Osteoporosis	5831	PYCR1	OMIM:614438
HP:0000939	Osteoporosis	5831	PYCR1	ORPHA:2078
HP:0000939	Osteoporosis	7012	TERC	OMIM:127550
HP:0000939	Osteoporosis	7012	TERC	ORPHA:1775
HP:0000939	Osteoporosis	4041	LRP5	OMIM:259770
HP:0000939	Osteoporosis	4041	LRP5	ORPHA:2788
HP:0000939	Osteoporosis	2710	GK	OMIM:307030
HP:0000939	Osteoporosis	2592	GALT	ORPHA:79239
HP:0000939	Osteoporosis	64135	IFIH1	OMIM:182250
HP:0000939	Osteoporosis	427	ASAH1	ORPHA:333
HP:0000939	Osteoporosis	84196	USP48	ORPHA:96253
HP:0000939	Osteoporosis	7157	TP53	ORPHA:96253
HP:0000939	Osteoporosis	9101	USP8	ORPHA:96253
HP:0000939	Osteoporosis	9101	USP8	OMIM:219090
HP:0000939	Osteoporosis	2908	NR3C1	ORPHA:96253
HP:0000939	Osteoporosis	673	BRAF	ORPHA:96253
HP:0000939	Osteoporosis	546	ATRX	ORPHA:96253
HP:0000939	Osteoporosis	22930	RAB3GAP1	OMIM:600118
HP:0000939	Osteoporosis	6774	STAT3	ORPHA:2314
HP:0000939	Osteoporosis	5257	PHKB	ORPHA:79240
HP:0000939	Osteoporosis	1280	COL2A1	ORPHA:94068
HP:0000939	Osteoporosis	92344	GORAB	OMIM:231070
HP:0000939	Osteoporosis	92344	GORAB	ORPHA:2078
HP:0000939	Osteoporosis	6678	SPARC	OMIM:616507
HP:0000939	Osteoporosis	9719	ADAMTSL2	ORPHA:1901
HP:0000939	Osteoporosis	9509	ADAMTS2	ORPHA:1901
HP:0000939	Osteoporosis	3248	HPGD	ORPHA:2796
HP:0000939	Osteoporosis	3248	HPGD	OMIM:259100
HP:0000939	Osteoporosis	6578	SLCO2A1	ORPHA:2796
HP:0000939	Osteoporosis	7389	UROD	ORPHA:95159
HP:0000939	Osteoporosis	1583	CYP11A1	ORPHA:289548
HP:0000939	Osteoporosis	1583	CYP11A1	ORPHA:168558
HP:0000939	Osteoporosis	4000	LMNA	OMIM:151660
HP:0000939	Osteoporosis	4000	LMNA	ORPHA:79474
HP:0000939	Osteoporosis	9451	EIF2AK3	OMIM:226980
HP:0000939	Osteoporosis	23395	LARS2	OMIM:615300
HP:0000939	Osteoporosis	860	RUNX2	ORPHA:1452
HP:0000939	Osteoporosis	57817	HAMP	ORPHA:79230
HP:0000939	Osteoporosis	148738	HJV	ORPHA:79230
HP:0000939	Osteoporosis	4763	NF1	ORPHA:97685
HP:0000939	Osteoporosis	60386	SLC25A19	ORPHA:99742
HP:0000939	Osteoporosis	650	BMP2	OMIM:235200
HP:0000939	Osteoporosis	9150	CTDP1	ORPHA:48431
HP:0000939	Osteoporosis	55505	NOP10	OMIM:224230
HP:0000939	Osteoporosis	55505	NOP10	ORPHA:1775
HP:0000939	Osteoporosis	55651	NHP2	OMIM:224230
HP:0000939	Osteoporosis	55651	NHP2	ORPHA:1775
HP:0000939	Osteoporosis	9368	NHERF1	OMIM:612287
HP:0000939	Osteoporosis	2588	GALNS	OMIM:253000
HP:0000939	Osteoporosis	6569	SLC34A1	OMIM:612286
HP:0000939	Osteoporosis	5352	PLOD2	ORPHA:2771
HP:0000939	Osteoporosis	60681	FKBP10	ORPHA:2771
HP:0000939	Osteoporosis	60681	FKBP10	OMIM:259450
HP:0000939	Osteoporosis	3594	IL12RB1	ORPHA:186
HP:0000939	Osteoporosis	23534	TNPO3	ORPHA:186
HP:0000939	Osteoporosis	3592	IL12A	ORPHA:186
HP:0000939	Osteoporosis	6689	SPIB	ORPHA:186
HP:0000939	Osteoporosis	5450	POU2AF1	ORPHA:186
HP:0000939	Osteoporosis	9966	TNFSF15	ORPHA:186
HP:0000939	Osteoporosis	79258	MMEL1	ORPHA:186
HP:0000939	Osteoporosis	3663	IRF5	ORPHA:186
HP:0000939	Osteoporosis	100147744	RNU7-1	OMIM:619487
HP:0000939	Osteoporosis	285590	SH3PXD2B	OMIM:249420
HP:0000939	Osteoporosis	79983	POF1B	OMIM:300604
HP:0000939	Osteoporosis	3295	HSD17B4	OMIM:233400
HP:0000939	Osteoporosis	6329	SCN4A	OMIM:620351
HP:0000939	Osteoporosis	126792	B3GALT6	OMIM:271640
HP:0000939	Osteoporosis	126792	B3GALT6	ORPHA:536467
HP:0000939	Osteoporosis	55252	ASXL2	OMIM:617190
HP:0000939	Osteoporosis	11014	KDELR2	OMIM:619131
HP:0000939	Osteoporosis	10479	SLC9A6	ORPHA:85278
HP:0000939	Osteoporosis	100151683	RNU4ATAC	ORPHA:2636
HP:0000939	Osteoporosis	8815	BANF1	OMIM:614008
HP:0000939	Osteoporosis	55811	ADCY10	ORPHA:2197
HP:0000939	Osteoporosis	5479	PPIB	OMIM:259440
HP:0000939	Osteoporosis	166929	SGMS2	OMIM:126550
HP:0000939	Osteoporosis	9469	CHST3	OMIM:245600
HP:0000939	Osteoporosis	26229	B3GAT3	OMIM:245600
HP:0000939	Osteoporosis	80169	CTC1	OMIM:612199
HP:0000939	Osteoporosis	80169	CTC1	ORPHA:1775
HP:0000939	Osteoporosis	79650	USB1	ORPHA:1775
HP:0000939	Osteoporosis	55135	WRAP53	ORPHA:1775
HP:0000939	Osteoporosis	51750	RTEL1	ORPHA:1775
HP:0000939	Osteoporosis	4869	NPM1	ORPHA:1775
HP:0000939	Osteoporosis	5073	PARN	ORPHA:1775
HP:0000939	Osteoporosis	7298	TYMS	ORPHA:1775
HP:0000939	Osteoporosis	10892	MALT1	OMIM:615468
HP:0000939	Osteoporosis	7390	UROS	ORPHA:79277
HP:0000939	Osteoporosis	2623	GATA1	ORPHA:79277
HP:0000939	Osteoporosis	121340	SP7	OMIM:613849
HP:0000939	Osteoporosis	29893	PSMC3IP	ORPHA:243
HP:0000939	Osteoporosis	171568	POLR3H	ORPHA:243
HP:0000939	Osteoporosis	125150	ZSWIM7	ORPHA:243
HP:0000939	Osteoporosis	9210	BMP15	ORPHA:243
HP:0000939	Osteoporosis	57122	NUP107	ORPHA:243
HP:0000939	Osteoporosis	23514	SPIDR	ORPHA:243
HP:0000939	Osteoporosis	56945	MRPS22	ORPHA:243
HP:0000939	Osteoporosis	646	BNC1	ORPHA:243
HP:0000939	Osteoporosis	4438	MSH4	ORPHA:243
HP:0000939	Osteoporosis	5626	PROP1	ORPHA:95494
HP:0000939	Osteoporosis	5626	PROP1	ORPHA:90695
HP:0000939	Osteoporosis	2736	GLI2	ORPHA:95494
HP:0000939	Osteoporosis	89884	LHX4	ORPHA:95494
HP:0000939	Osteoporosis	3170	FOXA2	ORPHA:95494
HP:0000939	Osteoporosis	5449	POU1F1	ORPHA:95494
HP:0000939	Osteoporosis	8820	HESX1	ORPHA:95494
HP:0000939	Osteoporosis	5015	OTX2	ORPHA:95494
HP:0000939	Osteoporosis	6658	SOX3	ORPHA:90695
HP:0000939	Osteoporosis	6772	STAT1	ORPHA:391487
HP:0000939	Osteoporosis	59341	TRPV4	OMIM:184095
HP:0000939	Osteoporosis	55603	TENT5A	OMIM:617952
HP:0000939	Osteoporosis	23314	SATB2	OMIM:612313
HP:0000939	Osteoporosis	9247	GCM2	ORPHA:99879
HP:0000939	Osteoporosis	79158	GNPTAB	ORPHA:423461
HP:0000939	Osteoporosis	5654	HTRA1	ORPHA:199354
HP:0000939	Osteoporosis	6399	TRAPPC2	ORPHA:93284
HP:0001387	Joint stiffness	26191	PTPN22	ORPHA:397
HP:0001387	Joint stiffness	26191	PTPN22	ORPHA:85408
HP:0001387	Joint stiffness	26191	PTPN22	OMIM:180300
HP:0001387	Joint stiffness	3106	HLA-B	ORPHA:397
HP:0001387	Joint stiffness	3106	HLA-B	ORPHA:29207
HP:0001387	Joint stiffness	3123	HLA-DRB1	ORPHA:397
HP:0001387	Joint stiffness	8974	P4HA2	ORPHA:397
HP:0001387	Joint stiffness	875	CBS	ORPHA:394
HP:0001387	Joint stiffness	4621	MYH3	ORPHA:2053
HP:0001387	Joint stiffness	4621	MYH3	ORPHA:1147
HP:0001387	Joint stiffness	4621	MYH3	ORPHA:1146
HP:0001387	Joint stiffness	259232	NALCN	ORPHA:2053
HP:0001387	Joint stiffness	259232	NALCN	ORPHA:1147
HP:0001387	Joint stiffness	259232	NALCN	ORPHA:1146
HP:0001387	Joint stiffness	6910	TBX5	ORPHA:392
HP:0001387	Joint stiffness	8838	CCN6	OMIM:208230
HP:0001387	Joint stiffness	2200	FBN1	ORPHA:1885
HP:0001387	Joint stiffness	2200	FBN1	ORPHA:969
HP:0001387	Joint stiffness	2200	FBN1	OMIM:614185
HP:0001387	Joint stiffness	2200	FBN1	OMIM:608328
HP:0001387	Joint stiffness	2200	FBN1	ORPHA:3449
HP:0001387	Joint stiffness	2200	FBN1	ORPHA:2462
HP:0001387	Joint stiffness	54507	ADAMTSL4	ORPHA:1885
HP:0001387	Joint stiffness	4204	MECP2	ORPHA:1762
HP:0001387	Joint stiffness	2316	FLNA	OMIM:314400
HP:0001387	Joint stiffness	118429	ANTXR2	ORPHA:2176
HP:0001387	Joint stiffness	118429	ANTXR2	ORPHA:2028
HP:0001387	Joint stiffness	2720	GLB1	OMIM:230600
HP:0001387	Joint stiffness	2720	GLB1	OMIM:253010
HP:0001387	Joint stiffness	2720	GLB1	OMIM:230500
HP:0001387	Joint stiffness	3248	HPGD	ORPHA:1525
HP:0001387	Joint stiffness	81839	VANGL1	ORPHA:3027
HP:0001387	Joint stiffness	80199	FUZ	ORPHA:3027
HP:0001387	Joint stiffness	4125	MAN2B1	ORPHA:309282
HP:0001387	Joint stiffness	6775	STAT4	ORPHA:85408
HP:0001387	Joint stiffness	3560	IL2RB	ORPHA:85408
HP:0001387	Joint stiffness	79722	ANKRD55	ORPHA:85408
HP:0001387	Joint stiffness	919	CD247	ORPHA:85408
HP:0001387	Joint stiffness	3559	IL2RA	ORPHA:85408
HP:0001387	Joint stiffness	5771	PTPN2	ORPHA:85408
HP:0001387	Joint stiffness	72	ACTG2	ORPHA:2604
HP:0001387	Joint stiffness	224	ALDH3A2	ORPHA:816
HP:0001387	Joint stiffness	2314	FLII	ORPHA:819
HP:0001387	Joint stiffness	23096	IQSEC2	ORPHA:819
HP:0001387	Joint stiffness	10743	RAI1	ORPHA:819
HP:0001387	Joint stiffness	10522	DEAF1	ORPHA:819
HP:0001387	Joint stiffness	4000	LMNA	OMIM:248370
HP:0001387	Joint stiffness	4000	LMNA	ORPHA:98855
HP:0001387	Joint stiffness	4000	LMNA	ORPHA:98853
HP:0001387	Joint stiffness	4000	LMNA	ORPHA:740
HP:0001387	Joint stiffness	84572	GNPTG	OMIM:252605
HP:0001387	Joint stiffness	65082	VPS33A	ORPHA:505248
HP:0001387	Joint stiffness	5745	PTH1R	ORPHA:296
HP:0001387	Joint stiffness	3418	IDH2	ORPHA:296
HP:0001387	Joint stiffness	3417	IDH1	ORPHA:296
HP:0001387	Joint stiffness	170691	ADAMTS17	OMIM:613195
HP:0001387	Joint stiffness	170691	ADAMTS17	ORPHA:3449
HP:0001387	Joint stiffness	1280	COL2A1	OMIM:616583
HP:0001387	Joint stiffness	1280	COL2A1	OMIM:108300
HP:0001387	Joint stiffness	1280	COL2A1	ORPHA:485
HP:0001387	Joint stiffness	1280	COL2A1	OMIM:604864
HP:0001387	Joint stiffness	5119	CHMP1A	OMIM:614961
HP:0001387	Joint stiffness	2261	FGFR3	ORPHA:1860
HP:0001387	Joint stiffness	9927	MFN2	ORPHA:2398
HP:0001387	Joint stiffness	340061	STING1	OMIM:615934
HP:0001387	Joint stiffness	4054	LTBP3	ORPHA:969
HP:0001387	Joint stiffness	546	ATRX	ORPHA:847
HP:0001387	Joint stiffness	8200	GDF5	ORPHA:968
HP:0001387	Joint stiffness	8200	GDF5	ORPHA:3237
HP:0001387	Joint stiffness	8200	GDF5	ORPHA:2098
HP:0001387	Joint stiffness	9217	VAPB	ORPHA:209335
HP:0001387	Joint stiffness	222663	SCUBE3	OMIM:619184
HP:0001387	Joint stiffness	1311	COMP	OMIM:132400
HP:0001387	Joint stiffness	1311	COMP	ORPHA:93308
HP:0001387	Joint stiffness	1311	COMP	ORPHA:750
HP:0001387	Joint stiffness	3425	IDUA	OMIM:607014
HP:0001387	Joint stiffness	3425	IDUA	OMIM:607015
HP:0001387	Joint stiffness	3425	IDUA	ORPHA:93474
HP:0001387	Joint stiffness	175	AGA	ORPHA:93
HP:0001387	Joint stiffness	9241	NOG	ORPHA:3237
HP:0001387	Joint stiffness	2254	FGF9	ORPHA:3237
HP:0001387	Joint stiffness	81794	ADAMTS10	OMIM:277600
HP:0001387	Joint stiffness	81794	ADAMTS10	ORPHA:3449
HP:0001387	Joint stiffness	112476	PRRT2	ORPHA:98810
HP:0001387	Joint stiffness	25953	PNKD	ORPHA:98810
HP:0001387	Joint stiffness	10585	POMT1	OMIM:609308
HP:0001387	Joint stiffness	4318	MMP9	ORPHA:1040
HP:0001387	Joint stiffness	4322	MMP13	ORPHA:1040
HP:0001387	Joint stiffness	6804	STX1A	ORPHA:904
HP:0001387	Joint stiffness	7461	CLIP2	ORPHA:904
HP:0001387	Joint stiffness	84277	DNAJC30	ORPHA:904
HP:0001387	Joint stiffness	8468	FKBP6	ORPHA:904
HP:0001387	Joint stiffness	5982	RFC2	ORPHA:904
HP:0001387	Joint stiffness	2969	GTF2I	ORPHA:904
HP:0001387	Joint stiffness	3984	LIMK1	ORPHA:904
HP:0001387	Joint stiffness	9569	GTF2IRD1	ORPHA:904
HP:0001387	Joint stiffness	155382	VPS37D	ORPHA:904
HP:0001387	Joint stiffness	155368	METTL27	ORPHA:904
HP:0001387	Joint stiffness	114049	BUD23	ORPHA:904
HP:0001387	Joint stiffness	7458	EIF4H	ORPHA:904
HP:0001387	Joint stiffness	84163	GTF2IRD2	ORPHA:904
HP:0001387	Joint stiffness	26608	TBL2	ORPHA:904
HP:0001387	Joint stiffness	653361	NCF1	ORPHA:904
HP:0001387	Joint stiffness	135886	TMEM270	ORPHA:904
HP:0001387	Joint stiffness	9031	BAZ1B	ORPHA:904
HP:0001387	Joint stiffness	2006	ELN	ORPHA:904
HP:0001387	Joint stiffness	5590	PRKCZ	ORPHA:1606
HP:0001387	Joint stiffness	2563	GABRD	ORPHA:1606
HP:0001387	Joint stiffness	23013	SPEN	ORPHA:1606
HP:0001387	Joint stiffness	8510	MMP23B	ORPHA:1606
HP:0001387	Joint stiffness	7798	LUZP1	ORPHA:1606
HP:0001387	Joint stiffness	6497	SKI	ORPHA:1606
HP:0001387	Joint stiffness	6497	SKI	ORPHA:2462
HP:0001387	Joint stiffness	10630	PDPN	ORPHA:1606
HP:0001387	Joint stiffness	3339	HSPG2	ORPHA:1606
HP:0001387	Joint stiffness	3339	HSPG2	ORPHA:800
HP:0001387	Joint stiffness	10277	UBE4B	ORPHA:1606
HP:0001387	Joint stiffness	8514	KCNAB2	ORPHA:1606
HP:0001387	Joint stiffness	473	RERE	ORPHA:1606
HP:0001387	Joint stiffness	63976	PRDM16	ORPHA:1606
HP:0001387	Joint stiffness	54897	CASZ1	ORPHA:1606
HP:0001387	Joint stiffness	493856	CISD2	ORPHA:3463
HP:0001387	Joint stiffness	7466	WFS1	ORPHA:3463
HP:0001387	Joint stiffness	9719	ADAMTSL2	OMIM:231050
HP:0001387	Joint stiffness	9719	ADAMTSL2	ORPHA:1901
HP:0001387	Joint stiffness	7486	WRN	ORPHA:902
HP:0001387	Joint stiffness	285362	SUMF1	ORPHA:585
HP:0001387	Joint stiffness	2990	GUSB	ORPHA:584
HP:0001387	Joint stiffness	2990	GUSB	OMIM:253220
HP:0001387	Joint stiffness	4089	SMAD4	OMIM:139210
HP:0001387	Joint stiffness	4089	SMAD4	ORPHA:2588
HP:0001387	Joint stiffness	10436	EMG1	ORPHA:1270
HP:0001387	Joint stiffness	9555	MACROH2A1	ORPHA:1275
HP:0001387	Joint stiffness	5307	PITX1	ORPHA:1275
HP:0001387	Joint stiffness	63895	PIEZO2	ORPHA:1154
HP:0001387	Joint stiffness	63895	PIEZO2	ORPHA:2461
HP:0001387	Joint stiffness	7140	TNNT3	ORPHA:1147
HP:0001387	Joint stiffness	7140	TNNT3	ORPHA:1146
HP:0001387	Joint stiffness	7169	TPM2	ORPHA:1147
HP:0001387	Joint stiffness	7169	TPM2	ORPHA:1146
HP:0001387	Joint stiffness	7136	TNNI2	ORPHA:1147
HP:0001387	Joint stiffness	7136	TNNI2	ORPHA:1146
HP:0001387	Joint stiffness	4053	LTBP2	ORPHA:3449
HP:0001387	Joint stiffness	4053	LTBP2	OMIM:614819
HP:0001387	Joint stiffness	23483	TGDS	ORPHA:1388
HP:0001387	Joint stiffness	4604	MYBPC1	ORPHA:1146
HP:0001387	Joint stiffness	654	BMP6	ORPHA:465508
HP:0001387	Joint stiffness	3077	HFE	ORPHA:465508
HP:0001387	Joint stiffness	4882	NPR2	ORPHA:40
HP:0001387	Joint stiffness	100151683	RNU4ATAC	ORPHA:1824
HP:0001387	Joint stiffness	3586	IL10	OMIM:180300
HP:0001387	Joint stiffness	6583	SLC22A4	OMIM:180300
HP:0001387	Joint stiffness	4261	CIITA	OMIM:180300
HP:0001387	Joint stiffness	51744	CD244	OMIM:180300
HP:0001387	Joint stiffness	4795	NFKBIL1	OMIM:180300
HP:0001387	Joint stiffness	2273	FHL1	ORPHA:98863
HP:0001387	Joint stiffness	2010	EMD	ORPHA:98863
HP:0001387	Joint stiffness	79158	GNPTAB	ORPHA:423461
HP:0001387	Joint stiffness	60681	FKBP10	ORPHA:1149
HP:0001387	Joint stiffness	60681	FKBP10	ORPHA:2771
HP:0001387	Joint stiffness	64324	NSD1	ORPHA:3447
HP:0001387	Joint stiffness	23512	SUZ12	ORPHA:3447
HP:0001387	Joint stiffness	2146	EZH2	ORPHA:3447
HP:0001387	Joint stiffness	3081	HGD	ORPHA:56
HP:0001387	Joint stiffness	10262	SF3B4	ORPHA:245
HP:0001387	Joint stiffness	6473	SHOX	ORPHA:240
HP:0001387	Joint stiffness	57724	EPG5	ORPHA:1493
HP:0001387	Joint stiffness	23592	LEMD3	OMIM:166700
HP:0001387	Joint stiffness	23592	LEMD3	ORPHA:166119
HP:0001387	Joint stiffness	2201	FBN2	ORPHA:115
HP:0001387	Joint stiffness	79188	TMEM43	ORPHA:98853
HP:0001387	Joint stiffness	23345	SYNE1	ORPHA:98853
HP:0001387	Joint stiffness	23224	SYNE2	ORPHA:98853
HP:0001387	Joint stiffness	6448	SGSH	OMIM:252900
HP:0001387	Joint stiffness	4047	LSS	ORPHA:1366
HP:0001387	Joint stiffness	256297	PTF1A	OMIM:609069
HP:0001387	Joint stiffness	4148	MATN3	ORPHA:93311
HP:0001387	Joint stiffness	79650	USB1	OMIM:604173
HP:0001387	Joint stiffness	411	ARSB	OMIM:253200
HP:0001387	Joint stiffness	1836	SLC26A2	ORPHA:93307
HP:0001387	Joint stiffness	1836	SLC26A2	ORPHA:628
HP:0001387	Joint stiffness	443	ASPA	ORPHA:314911
HP:0001387	Joint stiffness	4952	OCRL	ORPHA:534
HP:0001387	Joint stiffness	5077	PAX3	ORPHA:896
HP:0001387	Joint stiffness	2068	ERCC2	ORPHA:1466
HP:0001387	Joint stiffness	2067	ERCC1	ORPHA:1466
HP:0001387	Joint stiffness	2074	ERCC6	ORPHA:1466
HP:0001387	Joint stiffness	2073	ERCC5	ORPHA:1466
HP:0001387	Joint stiffness	9509	ADAMTS2	ORPHA:1901
HP:0001387	Joint stiffness	2743	GLRB	ORPHA:3197
HP:0001387	Joint stiffness	2741	GLRA1	ORPHA:3197
HP:0001387	Joint stiffness	10243	GPHN	ORPHA:3197
HP:0001387	Joint stiffness	84896	ATAD1	ORPHA:3197
HP:0001387	Joint stiffness	9152	SLC6A5	ORPHA:3197
HP:0001387	Joint stiffness	8883	NAE1	OMIM:620210
HP:0001387	Joint stiffness	57167	SALL4	ORPHA:2307
HP:0001387	Joint stiffness	59341	TRPV4	ORPHA:1216
HP:0001387	Joint stiffness	59341	TRPV4	ORPHA:2635
HP:0001387	Joint stiffness	23476	BRD4	ORPHA:199
HP:0001387	Joint stiffness	9126	SMC3	ORPHA:199
HP:0001387	Joint stiffness	8243	SMC1A	ORPHA:199
HP:0001387	Joint stiffness	6878	TAF6	ORPHA:199
HP:0001387	Joint stiffness	25836	NIPBL	ORPHA:199
HP:0001387	Joint stiffness	55869	HDAC8	ORPHA:199
HP:0001387	Joint stiffness	5885	RAD21	ORPHA:199
HP:0001387	Joint stiffness	4659	PPP1R12A	OMIM:618820
HP:0001387	Joint stiffness	285590	SH3PXD2B	ORPHA:137834
HP:0001387	Joint stiffness	658	BMPR1B	ORPHA:2098
HP:0001387	Joint stiffness	5352	PLOD2	ORPHA:2771
HP:0001387	Joint stiffness	207	AKT1	ORPHA:744
HP:0001387	Joint stiffness	10269	ZMPSTE24	ORPHA:740
HP:0001387	Joint stiffness	10651	MTX2	OMIM:619127
HP:0001387	Joint stiffness	54676	GTPBP2	OMIM:617988
HP:0001387	Joint stiffness	2799	GNS	OMIM:252940
HP:0001387	Joint stiffness	50515	CHST11	OMIM:618167
HP:0001387	Joint stiffness	3889	KRT83	OMIM:617756
HP:0001387	Joint stiffness	3664	IRF6	ORPHA:1300
HP:0001387	Joint stiffness	8815	BANF1	OMIM:614008
HP:0001387	Joint stiffness	138050	HGSNAT	OMIM:252930
HP:0001387	Joint stiffness	22930	RAB3GAP1	ORPHA:2510
HP:0001387	Joint stiffness	25782	RAB3GAP2	ORPHA:2510
HP:0001387	Joint stiffness	22931	RAB18	ORPHA:2510
HP:0001387	Joint stiffness	128637	TBC1D20	ORPHA:2510
HP:0001387	Joint stiffness	71	ACTG1	ORPHA:2995
HP:0001387	Joint stiffness	60	ACTB	ORPHA:2995
HP:0001387	Joint stiffness	3897	L1CAM	ORPHA:2182
HP:0001387	Joint stiffness	3636	INPPL1	ORPHA:2746
HP:0001387	Joint stiffness	5130	PCYT1A	OMIM:608940
HP:0001387	Joint stiffness	54829	ASPN	OMIM:607850
HP:0001387	Joint stiffness	4669	NAGLU	OMIM:252920
HP:0001387	Joint stiffness	4982	TNFRSF11B	ORPHA:1416
HP:0001387	Joint stiffness	56172	ANKH	ORPHA:1416
HP:0001387	Joint stiffness	9898	UBAP2L	OMIM:620494
HP:0001387	Joint stiffness	1278	COL1A2	ORPHA:1899
HP:0001387	Joint stiffness	1277	COL1A1	ORPHA:1899
HP:0001387	Joint stiffness	10216	PRG4	OMIM:208250
HP:0001387	Joint stiffness	9401	RECQL4	OMIM:266280
HP:0001387	Joint stiffness	91754	NEK9	OMIM:617022
HP:0001387	Joint stiffness	4722	NDUFS3	OMIM:618230
HP:0001387	Joint stiffness	22943	DKK1	ORPHA:268882
HP:0001387	Joint stiffness	54820	NDE1	ORPHA:2177
HP:0001387	Joint stiffness	6926	TBX3	OMIM:181450
HP:0001387	Joint stiffness	26040	SETBP1	ORPHA:798
HP:0001387	Joint stiffness	8398	PLA2G6	ORPHA:199351
HP:0001387	Joint stiffness	6399	TRAPPC2	ORPHA:93284
HP:0002777	Tracheal stenosis	699	BUB1	OMIM:620183
HP:0002777	Tracheal stenosis	6023	RMRP	ORPHA:175
HP:0002777	Tracheal stenosis	341640	FREM2	ORPHA:2052
HP:0002777	Tracheal stenosis	80144	FRAS1	ORPHA:2052
HP:0002777	Tracheal stenosis	23426	GRIP1	ORPHA:2052
HP:0002777	Tracheal stenosis	5116	PCNT	ORPHA:2637
HP:0002777	Tracheal stenosis	6885	MAP3K7	OMIM:617137
HP:0002777	Tracheal stenosis	3766	KCNJ10	ORPHA:705
HP:0002777	Tracheal stenosis	2299	FOXI1	ORPHA:705
HP:0002777	Tracheal stenosis	5172	SLC26A4	ORPHA:705
HP:0002777	Tracheal stenosis	9719	ADAMTSL2	OMIM:231050
HP:0002777	Tracheal stenosis	65992	DDRGK1	ORPHA:93352
HP:0002777	Tracheal stenosis	7473	WNT3	ORPHA:3301
HP:0002777	Tracheal stenosis	340419	RSPO2	ORPHA:3301
HP:0002777	Tracheal stenosis	9496	TBX4	ORPHA:3301
HP:0002777	Tracheal stenosis	219844	HYLS1	OMIM:236680
HP:0002777	Tracheal stenosis	415	ARSL	ORPHA:79345
HP:0002777	Tracheal stenosis	3239	HOXD13	ORPHA:887
HP:0002777	Tracheal stenosis	10682	EBP	OMIM:302960
HP:0002777	Tracheal stenosis	9839	ZEB2	ORPHA:261537
HP:0002777	Tracheal stenosis	9839	ZEB2	ORPHA:261552
HP:0002777	Tracheal stenosis	2317	FLNB	OMIM:150250
HP:0002777	Tracheal stenosis	6662	SOX9	ORPHA:718
HP:0002777	Tracheal stenosis	1717	DHCR7	ORPHA:818
HP:0002777	Tracheal stenosis	3425	IDUA	OMIM:607015
HP:0002777	Tracheal stenosis	4054	LTBP3	OMIM:617809
HP:0002777	Tracheal stenosis	2137	EXTL3	ORPHA:508533
HP:0002777	Tracheal stenosis	2137	EXTL3	OMIM:617425
HP:0002777	Tracheal stenosis	1836	SLC26A2	OMIM:222600
HP:0002777	Tracheal stenosis	4089	SMAD4	OMIM:139210
HP:0002777	Tracheal stenosis	374654	KIF7	ORPHA:2189
HP:0002777	Tracheal stenosis	4256	MGP	ORPHA:85202
HP:0002778	Abnormal tracheal morphology	2294	FOXF1	OMIM:265380
HP:0002778	Abnormal tracheal morphology	2294	FOXF1	ORPHA:210122
HP:0002778	Abnormal tracheal morphology	2187	FANCB	OMIM:300514
HP:0002778	Abnormal tracheal morphology	2187	FANCB	OMIM:314390
HP:0002778	Abnormal tracheal morphology	2187	FANCB	ORPHA:3412
HP:0002778	Abnormal tracheal morphology	2187	FANCB	ORPHA:84
HP:0002778	Abnormal tracheal morphology	10054	UBA2	OMIM:619959
HP:0002778	Abnormal tracheal morphology	6804	STX1A	ORPHA:904
HP:0002778	Abnormal tracheal morphology	7461	CLIP2	ORPHA:904
HP:0002778	Abnormal tracheal morphology	84277	DNAJC30	ORPHA:904
HP:0002778	Abnormal tracheal morphology	8468	FKBP6	ORPHA:904
HP:0002778	Abnormal tracheal morphology	5982	RFC2	ORPHA:904
HP:0002778	Abnormal tracheal morphology	2969	GTF2I	ORPHA:904
HP:0002778	Abnormal tracheal morphology	3984	LIMK1	ORPHA:904
HP:0002778	Abnormal tracheal morphology	9569	GTF2IRD1	ORPHA:904
HP:0002778	Abnormal tracheal morphology	155382	VPS37D	ORPHA:904
HP:0002778	Abnormal tracheal morphology	155368	METTL27	ORPHA:904
HP:0002778	Abnormal tracheal morphology	114049	BUD23	ORPHA:904
HP:0002778	Abnormal tracheal morphology	7458	EIF4H	ORPHA:904
HP:0002778	Abnormal tracheal morphology	84163	GTF2IRD2	ORPHA:904
HP:0002778	Abnormal tracheal morphology	26608	TBL2	ORPHA:904
HP:0002778	Abnormal tracheal morphology	653361	NCF1	ORPHA:904
HP:0002778	Abnormal tracheal morphology	653361	NCF1	ORPHA:379
HP:0002778	Abnormal tracheal morphology	135886	TMEM270	ORPHA:904
HP:0002778	Abnormal tracheal morphology	9031	BAZ1B	ORPHA:904
HP:0002778	Abnormal tracheal morphology	2006	ELN	ORPHA:904
HP:0002778	Abnormal tracheal morphology	5979	RET	ORPHA:1848
HP:0002778	Abnormal tracheal morphology	8516	ITGA8	ORPHA:1848
HP:0002778	Abnormal tracheal morphology	26281	FGF20	ORPHA:1848
HP:0002778	Abnormal tracheal morphology	2674	GFRA1	ORPHA:1848
HP:0002778	Abnormal tracheal morphology	7484	WNT9B	ORPHA:1848
HP:0002778	Abnormal tracheal morphology	80000	GREB1L	ORPHA:1848
HP:0002778	Abnormal tracheal morphology	6558	SLC12A2	OMIM:619083
HP:0002778	Abnormal tracheal morphology	84172	POLR1B	ORPHA:861
HP:0002778	Abnormal tracheal morphology	9533	POLR1C	ORPHA:861
HP:0002778	Abnormal tracheal morphology	51082	POLR1D	ORPHA:861
HP:0002778	Abnormal tracheal morphology	6949	TCOF1	ORPHA:861
HP:0002778	Abnormal tracheal morphology	6299	SALL1	OMIM:107480
HP:0002778	Abnormal tracheal morphology	7547	ZIC3	OMIM:314390
HP:0002778	Abnormal tracheal morphology	55788	LMBRD1	OMIM:277380
HP:0002778	Abnormal tracheal morphology	57466	SCAF4	OMIM:620511
HP:0002778	Abnormal tracheal morphology	55636	CHD7	ORPHA:138
HP:0002778	Abnormal tracheal morphology	55636	CHD7	OMIM:214800
HP:0002778	Abnormal tracheal morphology	9723	SEMA3E	ORPHA:138
HP:0002778	Abnormal tracheal morphology	1536	CYBB	ORPHA:379
HP:0002778	Abnormal tracheal morphology	4688	NCF2	ORPHA:379
HP:0002778	Abnormal tracheal morphology	1535	CYBA	ORPHA:379
HP:0002778	Abnormal tracheal morphology	4689	NCF4	ORPHA:379
HP:0002778	Abnormal tracheal morphology	79415	CYBC1	ORPHA:379
HP:0002778	Abnormal tracheal morphology	6657	SOX2	ORPHA:77298
HP:0002778	Abnormal tracheal morphology	6657	SOX2	ORPHA:3157
HP:0002778	Abnormal tracheal morphology	4854	NOTCH3	ORPHA:2591
HP:0002778	Abnormal tracheal morphology	5159	PDGFRB	ORPHA:2591
HP:0002778	Abnormal tracheal morphology	2177	FANCD2	OMIM:227646
HP:0002778	Abnormal tracheal morphology	2177	FANCD2	ORPHA:84
HP:0002778	Abnormal tracheal morphology	55120	FANCL	OMIM:614083
HP:0002778	Abnormal tracheal morphology	55120	FANCL	ORPHA:84
HP:0002778	Abnormal tracheal morphology	10606	PAICS	OMIM:619859
HP:0002778	Abnormal tracheal morphology	7476	WNT7A	ORPHA:2879
HP:0002778	Abnormal tracheal morphology	85459	CEP295	OMIM:620767
HP:0002778	Abnormal tracheal morphology	672	BRCA1	ORPHA:84
HP:0002778	Abnormal tracheal morphology	10459	MAD2L2	ORPHA:84
HP:0002778	Abnormal tracheal morphology	7516	XRCC2	ORPHA:84
HP:0002778	Abnormal tracheal morphology	29089	UBE2T	ORPHA:84
HP:0002778	Abnormal tracheal morphology	675	BRCA2	ORPHA:84
HP:0002778	Abnormal tracheal morphology	2175	FANCA	ORPHA:84
HP:0002778	Abnormal tracheal morphology	2176	FANCC	ORPHA:84
HP:0002778	Abnormal tracheal morphology	2178	FANCE	ORPHA:84
HP:0002778	Abnormal tracheal morphology	2188	FANCF	ORPHA:84
HP:0002778	Abnormal tracheal morphology	2189	FANCG	ORPHA:84
HP:0002778	Abnormal tracheal morphology	5888	RAD51	ORPHA:84
HP:0002778	Abnormal tracheal morphology	5889	RAD51C	ORPHA:84
HP:0002778	Abnormal tracheal morphology	55159	RFWD3	ORPHA:84
HP:0002778	Abnormal tracheal morphology	83990	BRIP1	ORPHA:84
HP:0002778	Abnormal tracheal morphology	57697	FANCM	ORPHA:84
HP:0002778	Abnormal tracheal morphology	79728	PALB2	ORPHA:84
HP:0002778	Abnormal tracheal morphology	84464	SLX4	ORPHA:84
HP:0002778	Abnormal tracheal morphology	2072	ERCC4	ORPHA:84
HP:0002778	Abnormal tracheal morphology	55215	FANCI	ORPHA:84
HP:0002778	Abnormal tracheal morphology	3239	HOXD13	ORPHA:887
HP:0002778	Abnormal tracheal morphology	5422	POLA1	OMIM:301030
HP:0002778	Abnormal tracheal morphology	80169	CTC1	ORPHA:1775
HP:0002778	Abnormal tracheal morphology	26277	TINF2	ORPHA:1775
HP:0002778	Abnormal tracheal morphology	55651	NHP2	ORPHA:1775
HP:0002778	Abnormal tracheal morphology	79650	USB1	ORPHA:1775
HP:0002778	Abnormal tracheal morphology	55135	WRAP53	ORPHA:1775
HP:0002778	Abnormal tracheal morphology	51750	RTEL1	ORPHA:1775
HP:0002778	Abnormal tracheal morphology	4869	NPM1	ORPHA:1775
HP:0002778	Abnormal tracheal morphology	7012	TERC	ORPHA:1775
HP:0002778	Abnormal tracheal morphology	55505	NOP10	ORPHA:1775
HP:0002778	Abnormal tracheal morphology	5073	PARN	ORPHA:1775
HP:0002778	Abnormal tracheal morphology	7015	TERT	ORPHA:1775
HP:0002778	Abnormal tracheal morphology	1736	DKC1	ORPHA:1775
HP:0002778	Abnormal tracheal morphology	7298	TYMS	ORPHA:1775
HP:0002778	Abnormal tracheal morphology	4281	MID1	ORPHA:2745
HP:0002778	Abnormal tracheal morphology	4613	MYCN	OMIM:164280
HP:0002778	Abnormal tracheal morphology	51729	WBP11	OMIM:619227
HP:0002778	Abnormal tracheal morphology	2260	FGFR1	ORPHA:3157
HP:0002778	Abnormal tracheal morphology	128674	PROKR2	ORPHA:3157
HP:0002778	Abnormal tracheal morphology	6658	SOX3	ORPHA:3157
HP:0002778	Abnormal tracheal morphology	9915	ARNT2	ORPHA:3157
HP:0002778	Abnormal tracheal morphology	8820	HESX1	ORPHA:3157
HP:0002778	Abnormal tracheal morphology	5015	OTX2	ORPHA:3157
HP:0002778	Abnormal tracheal morphology	2201	FBN2	ORPHA:115
HP:0002778	Abnormal tracheal morphology	699	BUB1	OMIM:620183
HP:0002778	Abnormal tracheal morphology	6023	RMRP	ORPHA:175
HP:0002778	Abnormal tracheal morphology	341640	FREM2	ORPHA:2052
HP:0002778	Abnormal tracheal morphology	80144	FRAS1	ORPHA:2052
HP:0002778	Abnormal tracheal morphology	23426	GRIP1	ORPHA:2052
HP:0002778	Abnormal tracheal morphology	5116	PCNT	ORPHA:2637
HP:0002778	Abnormal tracheal morphology	6885	MAP3K7	OMIM:617137
HP:0002778	Abnormal tracheal morphology	3766	KCNJ10	ORPHA:705
HP:0002778	Abnormal tracheal morphology	2299	FOXI1	ORPHA:705
HP:0002778	Abnormal tracheal morphology	5172	SLC26A4	ORPHA:705
HP:0002778	Abnormal tracheal morphology	9719	ADAMTSL2	OMIM:231050
HP:0002778	Abnormal tracheal morphology	65992	DDRGK1	ORPHA:93352
HP:0002778	Abnormal tracheal morphology	7473	WNT3	ORPHA:3301
HP:0002778	Abnormal tracheal morphology	340419	RSPO2	ORPHA:3301
HP:0002778	Abnormal tracheal morphology	9496	TBX4	ORPHA:3301
HP:0002778	Abnormal tracheal morphology	219844	HYLS1	OMIM:236680
HP:0002778	Abnormal tracheal morphology	415	ARSL	ORPHA:79345
HP:0002778	Abnormal tracheal morphology	10682	EBP	OMIM:302960
HP:0002778	Abnormal tracheal morphology	9839	ZEB2	ORPHA:261537
HP:0002778	Abnormal tracheal morphology	9839	ZEB2	ORPHA:261552
HP:0002778	Abnormal tracheal morphology	2317	FLNB	OMIM:150250
HP:0002778	Abnormal tracheal morphology	6662	SOX9	ORPHA:718
HP:0002778	Abnormal tracheal morphology	1717	DHCR7	ORPHA:818
HP:0002778	Abnormal tracheal morphology	3425	IDUA	OMIM:607015
HP:0002778	Abnormal tracheal morphology	4054	LTBP3	OMIM:617809
HP:0002778	Abnormal tracheal morphology	79633	FAT4	OMIM:616006
HP:0002778	Abnormal tracheal morphology	79633	FAT4	ORPHA:314679
HP:0002778	Abnormal tracheal morphology	8642	DCHS1	ORPHA:314679
HP:0002778	Abnormal tracheal morphology	11146	GLMN	ORPHA:83454
HP:0002778	Abnormal tracheal morphology	8425	LTBP4	OMIM:613177
HP:0002778	Abnormal tracheal morphology	6125	RPL5	OMIM:612561
HP:0002778	Abnormal tracheal morphology	27125	AFF4	OMIM:616368
HP:0002778	Abnormal tracheal morphology	27125	AFF4	ORPHA:444077
HP:0002778	Abnormal tracheal morphology	5396	PRRX1	OMIM:202650
HP:0002778	Abnormal tracheal morphology	9759	HDAC4	ORPHA:1001
HP:0002778	Abnormal tracheal morphology	5428	POLG	OMIM:203700
HP:0002778	Abnormal tracheal morphology	80232	WDR26	ORPHA:513456
HP:0002778	Abnormal tracheal morphology	79813	EHMT1	ORPHA:261652
HP:0002778	Abnormal tracheal morphology	58508	KMT2C	ORPHA:261652
HP:0002778	Abnormal tracheal morphology	2077	ERF	OMIM:617180
HP:0002778	Abnormal tracheal morphology	284058	KANSL1	ORPHA:363965
HP:0002778	Abnormal tracheal morphology	284058	KANSL1	ORPHA:363958
HP:0002778	Abnormal tracheal morphology	6628	SNRPB	ORPHA:1393
HP:0002778	Abnormal tracheal morphology	374879	ZNF699	OMIM:619488
HP:0002778	Abnormal tracheal morphology	253959	RALGAPA1	OMIM:618797
HP:0002778	Abnormal tracheal morphology	27245	AHDC1	ORPHA:412069
HP:0002778	Abnormal tracheal morphology	8239	USP9X	OMIM:300919
HP:0002778	Abnormal tracheal morphology	25782	RAB3GAP2	OMIM:212720
HP:0002778	Abnormal tracheal morphology	29072	SETD2	OMIM:620155
HP:0002778	Abnormal tracheal morphology	5077	PAX3	ORPHA:896
HP:0002778	Abnormal tracheal morphology	139285	AMER1	OMIM:300373
HP:0002778	Abnormal tracheal morphology	745	MYRF	OMIM:618280
HP:0002778	Abnormal tracheal morphology	126792	B3GALT6	ORPHA:536467
HP:0002778	Abnormal tracheal morphology	2263	FGFR2	ORPHA:93260
HP:0002778	Abnormal tracheal morphology	2263	FGFR2	ORPHA:93259
HP:0002778	Abnormal tracheal morphology	23321	TRIM2	OMIM:615490
HP:0002778	Abnormal tracheal morphology	1280	COL2A1	OMIM:156550
HP:0002778	Abnormal tracheal morphology	5000	ORC4	OMIM:613800
HP:0002778	Abnormal tracheal morphology	5908	RAP1B	OMIM:620654
HP:0002778	Abnormal tracheal morphology	3265	HRAS	OMIM:218040
HP:0002778	Abnormal tracheal morphology	23594	ORC6	OMIM:613803
HP:0002778	Abnormal tracheal morphology	84181	CHD6	ORPHA:2108
HP:0002778	Abnormal tracheal morphology	90952	ESAM	OMIM:620371
HP:0002778	Abnormal tracheal morphology	168667	BMPER	OMIM:608022
HP:0002778	Abnormal tracheal morphology	222663	SCUBE3	OMIM:619184
HP:0002778	Abnormal tracheal morphology	3423	IDS	OMIM:309900
HP:0002778	Abnormal tracheal morphology	5879	RAC1	OMIM:617751
HP:0002778	Abnormal tracheal morphology	5879	RAC1	ORPHA:500159
HP:0002778	Abnormal tracheal morphology	25885	POLR1A	OMIM:616462
HP:0002778	Abnormal tracheal morphology	51053	GMNN	OMIM:616835
HP:0002778	Abnormal tracheal morphology	3930	LBR	OMIM:215140
HP:0002778	Abnormal tracheal morphology	4921	DDR2	OMIM:271665
HP:0002778	Abnormal tracheal morphology	4256	MGP	OMIM:245150
HP:0002778	Abnormal tracheal morphology	2137	EXTL3	ORPHA:508533
HP:0002778	Abnormal tracheal morphology	2137	EXTL3	OMIM:617425
HP:0002778	Abnormal tracheal morphology	1836	SLC26A2	OMIM:222600
HP:0002778	Abnormal tracheal morphology	4089	SMAD4	OMIM:139210
HP:0002778	Abnormal tracheal morphology	3835	KIF22	ORPHA:93360
HP:0002778	Abnormal tracheal morphology	3835	KIF22	OMIM:603546
HP:0002778	Abnormal tracheal morphology	8295	TRRAP	OMIM:618454
HP:0002778	Abnormal tracheal morphology	23065	EMC1	OMIM:616875
HP:0002778	Abnormal tracheal morphology	23065	EMC1	ORPHA:480898
HP:0002778	Abnormal tracheal morphology	3098	HK1	OMIM:618547
HP:0002778	Abnormal tracheal morphology	4796	TONSL	OMIM:271510
HP:0002778	Abnormal tracheal morphology	374654	KIF7	ORPHA:2189
HP:0002779	Tracheomalacia	4613	MYCN	OMIM:620748
HP:0002779	Tracheomalacia	8425	LTBP4	OMIM:613177
HP:0002779	Tracheomalacia	6125	RPL5	OMIM:612561
HP:0002779	Tracheomalacia	27125	AFF4	OMIM:616368
HP:0002779	Tracheomalacia	27125	AFF4	ORPHA:444077
HP:0002779	Tracheomalacia	5396	PRRX1	OMIM:202650
HP:0002779	Tracheomalacia	9759	HDAC4	ORPHA:1001
HP:0002779	Tracheomalacia	5428	POLG	OMIM:203700
HP:0002779	Tracheomalacia	6662	SOX9	ORPHA:140
HP:0002779	Tracheomalacia	6662	SOX9	OMIM:114290
HP:0002779	Tracheomalacia	6662	SOX9	ORPHA:718
HP:0002779	Tracheomalacia	80232	WDR26	ORPHA:513456
HP:0002779	Tracheomalacia	79813	EHMT1	ORPHA:261652
HP:0002779	Tracheomalacia	58508	KMT2C	ORPHA:261652
HP:0002779	Tracheomalacia	2077	ERF	OMIM:617180
HP:0002779	Tracheomalacia	284058	KANSL1	ORPHA:363965
HP:0002779	Tracheomalacia	284058	KANSL1	ORPHA:363958
HP:0002779	Tracheomalacia	6628	SNRPB	ORPHA:1393
HP:0002779	Tracheomalacia	374879	ZNF699	OMIM:619488
HP:0002779	Tracheomalacia	253959	RALGAPA1	OMIM:618797
HP:0002779	Tracheomalacia	27245	AHDC1	ORPHA:412069
HP:0002779	Tracheomalacia	8239	USP9X	OMIM:300919
HP:0002779	Tracheomalacia	25782	RAB3GAP2	OMIM:212720
HP:0002779	Tracheomalacia	79633	FAT4	ORPHA:314679
HP:0002779	Tracheomalacia	79633	FAT4	OMIM:615546
HP:0002779	Tracheomalacia	8642	DCHS1	ORPHA:314679
HP:0002779	Tracheomalacia	8642	DCHS1	OMIM:601390
HP:0002779	Tracheomalacia	29072	SETD2	OMIM:620155
HP:0002779	Tracheomalacia	5077	PAX3	ORPHA:896
HP:0002779	Tracheomalacia	139285	AMER1	OMIM:300373
HP:0002779	Tracheomalacia	745	MYRF	OMIM:618280
HP:0002779	Tracheomalacia	126792	B3GALT6	ORPHA:536467
HP:0002779	Tracheomalacia	2263	FGFR2	ORPHA:93260
HP:0002779	Tracheomalacia	2263	FGFR2	ORPHA:93259
HP:0002779	Tracheomalacia	23321	TRIM2	OMIM:615490
HP:0002779	Tracheomalacia	1280	COL2A1	OMIM:156550
HP:0002779	Tracheomalacia	2317	FLNB	OMIM:150250
HP:0002779	Tracheomalacia	4281	MID1	ORPHA:2745
HP:0002779	Tracheomalacia	5000	ORC4	OMIM:613800
HP:0002779	Tracheomalacia	5908	RAP1B	OMIM:620654
HP:0002779	Tracheomalacia	3265	HRAS	OMIM:218040
HP:0002779	Tracheomalacia	23594	ORC6	OMIM:613803
HP:0002779	Tracheomalacia	84181	CHD6	ORPHA:2108
HP:0002779	Tracheomalacia	90952	ESAM	OMIM:620371
HP:0002779	Tracheomalacia	168667	BMPER	OMIM:608022
HP:0002779	Tracheomalacia	1836	SLC26A2	ORPHA:56304
HP:0002779	Tracheomalacia	222663	SCUBE3	OMIM:619184
HP:0002779	Tracheomalacia	3423	IDS	OMIM:309900
HP:0002779	Tracheomalacia	5879	RAC1	OMIM:617751
HP:0002779	Tracheomalacia	5879	RAC1	ORPHA:500159
HP:0002779	Tracheomalacia	25885	POLR1A	OMIM:616462
HP:0002779	Tracheomalacia	51053	GMNN	OMIM:616835
HP:0002779	Tracheomalacia	3835	KIF22	ORPHA:93360
HP:0002779	Tracheomalacia	3835	KIF22	OMIM:603546
HP:0002779	Tracheomalacia	8295	TRRAP	OMIM:618454
HP:0002779	Tracheomalacia	23065	EMC1	OMIM:616875
HP:0002779	Tracheomalacia	23065	EMC1	ORPHA:480898
HP:0002779	Tracheomalacia	3098	HK1	OMIM:618547
HP:0002779	Tracheomalacia	4796	TONSL	OMIM:271510
HP:0002780	Bronchomalacia	745	MYRF	OMIM:618280
HP:0002780	Bronchomalacia	2077	ERF	OMIM:617180
HP:0002780	Bronchomalacia	2317	FLNB	OMIM:150250
HP:0002780	Bronchomalacia	5447	POR	OMIM:201750
HP:0002780	Bronchomalacia	374879	ZNF699	OMIM:619488
HP:0002780	Bronchomalacia	3572	IL6ST	OMIM:619752
HP:0002780	Bronchomalacia	4629	MYH11	OMIM:619351
HP:0002780	Bronchomalacia	8425	LTBP4	OMIM:613177
HP:0002780	Bronchomalacia	2263	FGFR2	OMIM:101600
HP:0002780	Bronchomalacia	2260	FGFR1	OMIM:101600
HP:0002780	Bronchomalacia	7994	KAT6A	OMIM:616268
HP:0002780	Bronchomalacia	6662	SOX9	ORPHA:718
HP:0002780	Bronchomalacia	5000	ORC4	OMIM:613800
HP:0002780	Bronchomalacia	3852	KRT5	ORPHA:79396
HP:0002780	Bronchomalacia	3861	KRT14	ORPHA:79396
HP:0002780	Bronchomalacia	3265	HRAS	OMIM:218040
HP:0002780	Bronchomalacia	23594	ORC6	OMIM:613803
HP:0002780	Bronchomalacia	1836	SLC26A2	ORPHA:56304
HP:0002780	Bronchomalacia	222663	SCUBE3	OMIM:619184
HP:0002780	Bronchomalacia	3423	IDS	OMIM:309900
HP:0002780	Bronchomalacia	5879	RAC1	OMIM:617751
HP:0002780	Bronchomalacia	5879	RAC1	ORPHA:500159
HP:0002780	Bronchomalacia	25885	POLR1A	OMIM:616462
HP:0002780	Bronchomalacia	79813	EHMT1	OMIM:610253
HP:0002780	Bronchomalacia	51053	GMNN	OMIM:616835
HP:0002781	Upper airway obstruction	3763	KCNJ6	ORPHA:435628
HP:0002781	Upper airway obstruction	3763	KCNJ6	OMIM:614098
HP:0002781	Upper airway obstruction	3423	IDS	ORPHA:217085
HP:0002781	Upper airway obstruction	3423	IDS	ORPHA:217093
HP:0002781	Upper airway obstruction	2261	FGFR3	OMIM:100800
HP:0002781	Upper airway obstruction	57688	ZSWIM6	ORPHA:1827
HP:0002781	Upper airway obstruction	57688	ZSWIM6	OMIM:603671
HP:0002781	Upper airway obstruction	10020	GNE	ORPHA:3166
HP:0002781	Upper airway obstruction	65992	DDRGK1	ORPHA:93352
HP:0002781	Upper airway obstruction	7512	XPNPEP2	ORPHA:100057
HP:0002781	Upper airway obstruction	4000	LMNA	ORPHA:740
HP:0002781	Upper airway obstruction	10269	ZMPSTE24	ORPHA:740
HP:0002781	Upper airway obstruction	6452	SH3BP2	ORPHA:184
HP:0002781	Upper airway obstruction	27245	AHDC1	ORPHA:412069
HP:0002781	Upper airway obstruction	2263	FGFR2	OMIM:207410
HP:0002781	Upper airway obstruction	5447	POR	OMIM:207410
HP:0002781	Upper airway obstruction	6662	SOX9	ORPHA:718
HP:0002781	Upper airway obstruction	56244	BTNL2	ORPHA:797
HP:0002781	Upper airway obstruction	3123	HLA-DRB1	ORPHA:797
HP:0002781	Upper airway obstruction	1301	COL11A1	ORPHA:440354
HP:0002781	Upper airway obstruction	2161	F12	OMIM:610618
HP:0002205	Recurrent respiratory infections	8367	H4C5	OMIM:619950
HP:0002205	Recurrent respiratory infections	5393	EXOSC9	OMIM:618065
HP:0002205	Recurrent respiratory infections	8518	ELP1	ORPHA:1764
HP:0002205	Recurrent respiratory infections	5631	PRPS1	ORPHA:411543
HP:0002205	Recurrent respiratory infections	10054	UBA2	OMIM:619959
HP:0002205	Recurrent respiratory infections	5238	PGM3	ORPHA:443811
HP:0002205	Recurrent respiratory infections	5238	PGM3	OMIM:615816
HP:0002205	Recurrent respiratory infections	652	BMP4	ORPHA:828
HP:0002205	Recurrent respiratory infections	5880	RAC2	OMIM:618986
HP:0002205	Recurrent respiratory infections	5880	RAC2	OMIM:618987
HP:0002205	Recurrent respiratory infections	7360	UGP2	OMIM:618744
HP:0002205	Recurrent respiratory infections	128178	EDARADD	OMIM:614941
HP:0002205	Recurrent respiratory infections	987	LRBA	OMIM:614700
HP:0002205	Recurrent respiratory infections	345895	RSPH4A	OMIM:612649
HP:0002205	Recurrent respiratory infections	1131	CHRM3	ORPHA:2970
HP:0002205	Recurrent respiratory infections	79848	CSPP1	ORPHA:397715
HP:0002205	Recurrent respiratory infections	9786	KIAA0586	ORPHA:397715
HP:0002205	Recurrent respiratory infections	5354	PLP1	ORPHA:99015
HP:0002205	Recurrent respiratory infections	161582	DNAAF4	OMIM:615482
HP:0002205	Recurrent respiratory infections	249	ALPL	OMIM:241500
HP:0002205	Recurrent respiratory infections	613	BCR	ORPHA:261330
HP:0002205	Recurrent respiratory infections	1399	CRKL	ORPHA:261330
HP:0002205	Recurrent respiratory infections	5594	MAPK1	ORPHA:261330
HP:0002205	Recurrent respiratory infections	51506	UFC1	OMIM:618076
HP:0002205	Recurrent respiratory infections	283489	CHAMP1	OMIM:616579
HP:0002205	Recurrent respiratory infections	221421	RSPH9	OMIM:612650
HP:0002205	Recurrent respiratory infections	65082	VPS33A	OMIM:617303
HP:0002205	Recurrent respiratory infections	65082	VPS33A	ORPHA:505248
HP:0002205	Recurrent respiratory infections	3543	IGLL1	OMIM:613500
HP:0002205	Recurrent respiratory infections	3543	IGLL1	ORPHA:33110
HP:0002205	Recurrent respiratory infections	25782	RAB3GAP2	OMIM:212720
HP:0002205	Recurrent respiratory infections	5818	NECTIN1	ORPHA:3253
HP:0002205	Recurrent respiratory infections	55768	NGLY1	ORPHA:404454
HP:0002205	Recurrent respiratory infections	55768	NGLY1	OMIM:615273
HP:0002205	Recurrent respiratory infections	1536	CYBB	ORPHA:379
HP:0002205	Recurrent respiratory infections	4688	NCF2	ORPHA:379
HP:0002205	Recurrent respiratory infections	1535	CYBA	ORPHA:379
HP:0002205	Recurrent respiratory infections	4689	NCF4	ORPHA:379
HP:0002205	Recurrent respiratory infections	653361	NCF1	ORPHA:379
HP:0002205	Recurrent respiratory infections	653361	NCF1	ORPHA:904
HP:0002205	Recurrent respiratory infections	79415	CYBC1	ORPHA:379
HP:0002205	Recurrent respiratory infections	7535	ZAP70	OMIM:269840
HP:0002205	Recurrent respiratory infections	54	ACP5	OMIM:607944
HP:0002205	Recurrent respiratory infections	51360	MBTPS2	ORPHA:2273
HP:0002205	Recurrent respiratory infections	6772	STAT1	OMIM:614162
HP:0002205	Recurrent respiratory infections	57492	ARID1B	OMIM:135900
HP:0002205	Recurrent respiratory infections	284058	KANSL1	ORPHA:363958
HP:0002205	Recurrent respiratory infections	284058	KANSL1	ORPHA:363965
HP:0002205	Recurrent respiratory infections	80204	FBXO11	OMIM:618089
HP:0002205	Recurrent respiratory infections	6261	RYR1	OMIM:255320
HP:0002205	Recurrent respiratory infections	6261	RYR1	ORPHA:424107
HP:0002205	Recurrent respiratory infections	6261	RYR1	ORPHA:98905
HP:0002205	Recurrent respiratory infections	92579	G6PC3	OMIM:612541
HP:0002205	Recurrent respiratory infections	9326	ZNHIT3	ORPHA:2836
HP:0002205	Recurrent respiratory infections	3572	IL6ST	OMIM:618523
HP:0002205	Recurrent respiratory infections	340061	STING1	OMIM:615934
HP:0002205	Recurrent respiratory infections	64359	NXN	ORPHA:1507
HP:0002205	Recurrent respiratory infections	4920	ROR2	ORPHA:1507
HP:0002205	Recurrent respiratory infections	7080	NKX2-1	ORPHA:209905
HP:0002205	Recurrent respiratory infections	7080	NKX2-1	OMIM:610978
HP:0002205	Recurrent respiratory infections	5896	RAG1	OMIM:233650
HP:0002205	Recurrent respiratory infections	5897	RAG2	OMIM:233650
HP:0002205	Recurrent respiratory infections	1130	LYST	ORPHA:167
HP:0002205	Recurrent respiratory infections	1130	LYST	ORPHA:352723
HP:0002205	Recurrent respiratory infections	100303755	PET117	OMIM:619063
HP:0002205	Recurrent respiratory infections	171023	ASXL1	ORPHA:97297
HP:0002205	Recurrent respiratory infections	10815	CPLX1	ORPHA:280
HP:0002205	Recurrent respiratory infections	54872	PIGG	ORPHA:280
HP:0002205	Recurrent respiratory infections	7469	NELFA	ORPHA:280
HP:0002205	Recurrent respiratory infections	1487	CTBP1	ORPHA:280
HP:0002205	Recurrent respiratory infections	3954	LETM1	ORPHA:280
HP:0002205	Recurrent respiratory infections	7468	NSD2	ORPHA:280
HP:0002205	Recurrent respiratory infections	57190	SELENON	ORPHA:2020
HP:0002205	Recurrent respiratory infections	58	ACTA1	ORPHA:2020
HP:0002205	Recurrent respiratory infections	4633	MYL2	ORPHA:2020
HP:0002205	Recurrent respiratory infections	3679	ITGA7	ORPHA:2020
HP:0002205	Recurrent respiratory infections	7169	TPM2	ORPHA:2020
HP:0002205	Recurrent respiratory infections	9200	HACD1	ORPHA:2020
HP:0002205	Recurrent respiratory infections	7170	TPM3	ORPHA:2020
HP:0002205	Recurrent respiratory infections	51776	MAP3K20	ORPHA:2020
HP:0002205	Recurrent respiratory infections	567	B2M	OMIM:241600
HP:0002205	Recurrent respiratory infections	28755	TRAC	OMIM:615387
HP:0002205	Recurrent respiratory infections	79813	EHMT1	OMIM:610253
HP:0002205	Recurrent respiratory infections	29128	UHRF1	ORPHA:2268
HP:0002205	Recurrent respiratory infections	3070	HELLS	ORPHA:2268
HP:0002205	Recurrent respiratory infections	1789	DNMT3B	ORPHA:2268
HP:0002205	Recurrent respiratory infections	83879	CDCA7	ORPHA:2268
HP:0002205	Recurrent respiratory infections	9841	ZBTB24	ORPHA:2268
HP:0002205	Recurrent respiratory infections	2752	GLUL	OMIM:610015
HP:0002205	Recurrent respiratory infections	3425	IDUA	OMIM:607014
HP:0002205	Recurrent respiratory infections	3425	IDUA	OMIM:607015
HP:0002205	Recurrent respiratory infections	3425	IDUA	ORPHA:93473
HP:0002205	Recurrent respiratory infections	175	AGA	ORPHA:93
HP:0002205	Recurrent respiratory infections	175	AGA	OMIM:208400
HP:0002205	Recurrent respiratory infections	2214	FCGR3A	OMIM:615707
HP:0002205	Recurrent respiratory infections	4853	NOTCH2	ORPHA:955
HP:0002205	Recurrent respiratory infections	113278	SLC52A3	OMIM:211530
HP:0002205	Recurrent respiratory infections	7092	TLL1	ORPHA:99106
HP:0002205	Recurrent respiratory infections	4534	MTM1	ORPHA:596
HP:0002205	Recurrent respiratory infections	30011	SH3KBP1	OMIM:300310
HP:0002205	Recurrent respiratory infections	330	BIRC3	ORPHA:52417
HP:0002205	Recurrent respiratory infections	10892	MALT1	ORPHA:52417
HP:0002205	Recurrent respiratory infections	27086	FOXP1	ORPHA:52417
HP:0002205	Recurrent respiratory infections	3492	IGH	ORPHA:52417
HP:0002205	Recurrent respiratory infections	8915	BCL10	ORPHA:52417
HP:0002205	Recurrent respiratory infections	10043	TOM1	OMIM:619510
HP:0002205	Recurrent respiratory infections	57217	TTC7A	OMIM:243150
HP:0002205	Recurrent respiratory infections	83861	RSPH3	OMIM:616481
HP:0002205	Recurrent respiratory infections	23126	POGZ	OMIM:616364
HP:0002205	Recurrent respiratory infections	55773	TBC1D23	OMIM:617695
HP:0002205	Recurrent respiratory infections	9508	ADAMTS3	ORPHA:2136
HP:0002205	Recurrent respiratory infections	147372	CCBE1	ORPHA:2136
HP:0002205	Recurrent respiratory infections	79633	FAT4	ORPHA:2136
HP:0002205	Recurrent respiratory infections	9681	DEPDC5	OMIM:620504
HP:0002205	Recurrent respiratory infections	6804	STX1A	ORPHA:904
HP:0002205	Recurrent respiratory infections	6804	STX1A	ORPHA:586
HP:0002205	Recurrent respiratory infections	7461	CLIP2	ORPHA:904
HP:0002205	Recurrent respiratory infections	84277	DNAJC30	ORPHA:904
HP:0002205	Recurrent respiratory infections	8468	FKBP6	ORPHA:904
HP:0002205	Recurrent respiratory infections	5982	RFC2	ORPHA:904
HP:0002205	Recurrent respiratory infections	2969	GTF2I	ORPHA:904
HP:0002205	Recurrent respiratory infections	3984	LIMK1	ORPHA:904
HP:0002205	Recurrent respiratory infections	9569	GTF2IRD1	ORPHA:904
HP:0002205	Recurrent respiratory infections	155382	VPS37D	ORPHA:904
HP:0002205	Recurrent respiratory infections	155368	METTL27	ORPHA:904
HP:0002205	Recurrent respiratory infections	114049	BUD23	ORPHA:904
HP:0002205	Recurrent respiratory infections	7458	EIF4H	ORPHA:904
HP:0002205	Recurrent respiratory infections	84163	GTF2IRD2	ORPHA:904
HP:0002205	Recurrent respiratory infections	26608	TBL2	ORPHA:904
HP:0002205	Recurrent respiratory infections	135886	TMEM270	ORPHA:904
HP:0002205	Recurrent respiratory infections	9031	BAZ1B	ORPHA:904
HP:0002205	Recurrent respiratory infections	2006	ELN	ORPHA:904
HP:0002205	Recurrent respiratory infections	7454	WAS	ORPHA:906
HP:0002205	Recurrent respiratory infections	7456	WIPF1	ORPHA:906
HP:0002205	Recurrent respiratory infections	8364	H4C3	OMIM:619758
HP:0002205	Recurrent respiratory infections	1493	CTLA4	ORPHA:900
HP:0002205	Recurrent respiratory infections	26191	PTPN22	ORPHA:900
HP:0002205	Recurrent respiratory infections	3115	HLA-DPB1	ORPHA:900
HP:0002205	Recurrent respiratory infections	5657	PRTN3	ORPHA:900
HP:0002205	Recurrent respiratory infections	3113	HLA-DPA1	ORPHA:900
HP:0002205	Recurrent respiratory infections	11128	POLR3A	OMIM:264090
HP:0002205	Recurrent respiratory infections	3675	ITGA3	OMIM:614748
HP:0002205	Recurrent respiratory infections	8085	KMT2D	OMIM:620186
HP:0002205	Recurrent respiratory infections	415	ARSL	ORPHA:79345
HP:0002205	Recurrent respiratory infections	6609	SMPD1	OMIM:257200
HP:0002205	Recurrent respiratory infections	6609	SMPD1	OMIM:607616
HP:0002205	Recurrent respiratory infections	93986	FOXP2	ORPHA:251061
HP:0002205	Recurrent respiratory infections	472	ATM	ORPHA:100
HP:0002205	Recurrent respiratory infections	2990	GUSB	ORPHA:584
HP:0002205	Recurrent respiratory infections	3507	IGHM	OMIM:601495
HP:0002205	Recurrent respiratory infections	3507	IGHM	ORPHA:33110
HP:0002205	Recurrent respiratory infections	2947	GSTM3	ORPHA:586
HP:0002205	Recurrent respiratory infections	7040	TGFB1	ORPHA:586
HP:0002205	Recurrent respiratory infections	7040	TGFB1	OMIM:618213
HP:0002205	Recurrent respiratory infections	2729	GCLC	ORPHA:586
HP:0002205	Recurrent respiratory infections	1084	CEACAM3	ORPHA:586
HP:0002205	Recurrent respiratory infections	6556	SLC11A1	ORPHA:586
HP:0002205	Recurrent respiratory infections	51164	DCTN4	ORPHA:586
HP:0002205	Recurrent respiratory infections	3783	KCNN4	ORPHA:586
HP:0002205	Recurrent respiratory infections	4282	MIF	ORPHA:586
HP:0002205	Recurrent respiratory infections	1909	EDNRA	ORPHA:586
HP:0002205	Recurrent respiratory infections	6550	SLC9A3	ORPHA:586
HP:0002205	Recurrent respiratory infections	3162	HMOX1	ORPHA:586
HP:0002205	Recurrent respiratory infections	115019	SLC26A9	ORPHA:586
HP:0002205	Recurrent respiratory infections	3077	HFE	ORPHA:586
HP:0002205	Recurrent respiratory infections	11254	SLC6A14	ORPHA:586
HP:0002205	Recurrent respiratory infections	5265	SERPINA1	ORPHA:586
HP:0002205	Recurrent respiratory infections	1080	CFTR	ORPHA:586
HP:0002205	Recurrent respiratory infections	22802	CLCA4	ORPHA:586
HP:0002205	Recurrent respiratory infections	4680	CEACAM6	ORPHA:586
HP:0002205	Recurrent respiratory infections	4644	MYO5A	ORPHA:33445
HP:0002205	Recurrent respiratory infections	9321	TRIP11	OMIM:184260
HP:0002205	Recurrent respiratory infections	8481	OFD1	OMIM:300209
HP:0002205	Recurrent respiratory infections	4256	MGP	ORPHA:85202
HP:0002205	Recurrent respiratory infections	2316	FLNA	ORPHA:2484
HP:0002205	Recurrent respiratory infections	2316	FLNA	OMIM:309350
HP:0002205	Recurrent respiratory infections	9772	TMEM94	OMIM:618316
HP:0002205	Recurrent respiratory infections	917	CD3G	OMIM:615607
HP:0002205	Recurrent respiratory infections	9338	TCEAL1	OMIM:301094
HP:0002205	Recurrent respiratory infections	26154	ABCA12	ORPHA:457
HP:0002205	Recurrent respiratory infections	26154	ABCA12	ORPHA:313
HP:0002205	Recurrent respiratory infections	3718	JAK3	ORPHA:35078
HP:0002205	Recurrent respiratory infections	85452	CFAP74	OMIM:620197
HP:0002205	Recurrent respiratory infections	6638	SNRPN	ORPHA:98754
HP:0002205	Recurrent respiratory infections	6638	SNRPN	ORPHA:177904
HP:0002205	Recurrent respiratory infections	6638	SNRPN	ORPHA:177901
HP:0002205	Recurrent respiratory infections	6638	SNRPN	ORPHA:177907
HP:0002205	Recurrent respiratory infections	4692	NDN	ORPHA:98754
HP:0002205	Recurrent respiratory infections	4692	NDN	ORPHA:177904
HP:0002205	Recurrent respiratory infections	4692	NDN	ORPHA:177901
HP:0002205	Recurrent respiratory infections	54551	MAGEL2	ORPHA:98754
HP:0002205	Recurrent respiratory infections	54551	MAGEL2	OMIM:176270
HP:0002205	Recurrent respiratory infections	54551	MAGEL2	ORPHA:177904
HP:0002205	Recurrent respiratory infections	54551	MAGEL2	ORPHA:177901
HP:0002205	Recurrent respiratory infections	54551	MAGEL2	ORPHA:398069
HP:0002205	Recurrent respiratory infections	4948	OCA2	ORPHA:98754
HP:0002205	Recurrent respiratory infections	4948	OCA2	ORPHA:177904
HP:0002205	Recurrent respiratory infections	4948	OCA2	ORPHA:177901
HP:0002205	Recurrent respiratory infections	145873	MESP2	OMIM:608681
HP:0002205	Recurrent respiratory infections	145873	MESP2	OMIM:277300
HP:0002205	Recurrent respiratory infections	57724	EPG5	OMIM:242840
HP:0002205	Recurrent respiratory infections	57724	EPG5	ORPHA:1493
HP:0002205	Recurrent respiratory infections	64135	IFIH1	OMIM:619773
HP:0002205	Recurrent respiratory infections	64135	IFIH1	OMIM:182250
HP:0002205	Recurrent respiratory infections	8242	KDM5C	OMIM:300534
HP:0002205	Recurrent respiratory infections	197258	FCSK	OMIM:618324
HP:0002205	Recurrent respiratory infections	79989	IFT56	OMIM:619534
HP:0002205	Recurrent respiratory infections	84522	JAGN1	OMIM:616022
HP:0002205	Recurrent respiratory infections	50943	FOXP3	ORPHA:37042
HP:0002205	Recurrent respiratory infections	7994	KAT6A	OMIM:616268
HP:0002205	Recurrent respiratory infections	3551	IKBKB	OMIM:618204
HP:0002205	Recurrent respiratory infections	23219	FBXO28	OMIM:619777
HP:0002205	Recurrent respiratory infections	916	CD3E	OMIM:615615
HP:0002205	Recurrent respiratory infections	51322	WAC	ORPHA:466950
HP:0002205	Recurrent respiratory infections	915	CD3D	OMIM:615617
HP:0002205	Recurrent respiratory infections	6509	SLC1A4	ORPHA:447997
HP:0002205	Recurrent respiratory infections	3514	IGKC	ORPHA:183675
HP:0002205	Recurrent respiratory infections	3514	IGKC	OMIM:614102
HP:0002205	Recurrent respiratory infections	3501	IGHG2	ORPHA:183675
HP:0002205	Recurrent respiratory infections	79087	ALG12	ORPHA:79324
HP:0002205	Recurrent respiratory infections	2000	ELF4	OMIM:301074
HP:0002205	Recurrent respiratory infections	6595	SMARCA2	OMIM:601358
HP:0002205	Recurrent respiratory infections	81704	DOCK8	OMIM:243700
HP:0002205	Recurrent respiratory infections	81704	DOCK8	ORPHA:217390
HP:0002205	Recurrent respiratory infections	2629	GBA1	ORPHA:77261
HP:0002205	Recurrent respiratory infections	2629	GBA1	ORPHA:77260
HP:0002205	Recurrent respiratory infections	9742	IFT140	OMIM:266920
HP:0002205	Recurrent respiratory infections	93233	ODAD1	OMIM:615067
HP:0002205	Recurrent respiratory infections	56683	CFAP298	OMIM:615500
HP:0002205	Recurrent respiratory infections	115948	ODAD3	OMIM:616037
HP:0002205	Recurrent respiratory infections	85478	CCDC65	OMIM:615504
HP:0002205	Recurrent respiratory infections	7227	TRPS1	OMIM:190350
HP:0002205	Recurrent respiratory infections	6674	SPAG1	OMIM:615505
HP:0002205	Recurrent respiratory infections	51053	GMNN	OMIM:616835
HP:0002205	Recurrent respiratory infections	7319	UBE2A	ORPHA:163956
HP:0002205	Recurrent respiratory infections	5062	PAK2	OMIM:618458
HP:0002205	Recurrent respiratory infections	5908	RAP1B	OMIM:620654
HP:0002205	Recurrent respiratory infections	51314	NME8	OMIM:610852
HP:0002205	Recurrent respiratory infections	1828	DSG1	OMIM:615508
HP:0002205	Recurrent respiratory infections	6778	STAT6	OMIM:620532
HP:0002205	Recurrent respiratory infections	3559	IL2RA	OMIM:606367
HP:0002205	Recurrent respiratory infections	5830	PEX5	OMIM:616716
HP:0002205	Recurrent respiratory infections	219285	SAMD9L	ORPHA:2585
HP:0002205	Recurrent respiratory infections	6792	CDKL5	ORPHA:1934
HP:0002205	Recurrent respiratory infections	3736	KCNA1	ORPHA:1934
HP:0002205	Recurrent respiratory infections	9091	PIGQ	ORPHA:1934
HP:0002205	Recurrent respiratory infections	140679	SLC32A1	ORPHA:1934
HP:0002205	Recurrent respiratory infections	2775	GNAO1	ORPHA:1934
HP:0002205	Recurrent respiratory infections	81603	TRIM8	ORPHA:1934
HP:0002205	Recurrent respiratory infections	2902	GRIN1	ORPHA:1934
HP:0002205	Recurrent respiratory infections	79751	SLC25A22	ORPHA:1934
HP:0002205	Recurrent respiratory infections	150094	SIK1	ORPHA:1934
HP:0002205	Recurrent respiratory infections	8573	CASK	ORPHA:1934
HP:0002205	Recurrent respiratory infections	23312	DMXL2	ORPHA:1934
HP:0002205	Recurrent respiratory infections	2917	GRM7	ORPHA:1934
HP:0002205	Recurrent respiratory infections	170302	ARX	ORPHA:1934
HP:0002205	Recurrent respiratory infections	11284	PNKP	ORPHA:1934
HP:0002205	Recurrent respiratory infections	6326	SCN2A	ORPHA:1934
HP:0002205	Recurrent respiratory infections	51227	PIGP	ORPHA:1934
HP:0002205	Recurrent respiratory infections	6324	SCN1B	ORPHA:1934
HP:0002205	Recurrent respiratory infections	4761	NEUROD2	ORPHA:1934
HP:0002205	Recurrent respiratory infections	204	AK2	ORPHA:33355
HP:0002205	Recurrent respiratory infections	4126	MANBA	ORPHA:118
HP:0002205	Recurrent respiratory infections	1288	COL4A6	ORPHA:1018
HP:0002205	Recurrent respiratory infections	1287	COL4A5	ORPHA:1018
HP:0002205	Recurrent respiratory infections	6929	TCF3	ORPHA:33110
HP:0002205	Recurrent respiratory infections	7922	SLC39A7	ORPHA:33110
HP:0002205	Recurrent respiratory infections	973	CD79A	ORPHA:33110
HP:0002205	Recurrent respiratory infections	974	CD79B	ORPHA:33110
HP:0002205	Recurrent respiratory infections	6688	SPI1	ORPHA:33110
HP:0002205	Recurrent respiratory infections	6688	SPI1	OMIM:619707
HP:0002205	Recurrent respiratory infections	29760	BLNK	ORPHA:33110
HP:0002205	Recurrent respiratory infections	5295	PIK3R1	ORPHA:33110
HP:0002205	Recurrent respiratory infections	5295	PIK3R1	OMIM:615214
HP:0002205	Recurrent respiratory infections	56262	LRRC8A	ORPHA:33110
HP:0002205	Recurrent respiratory infections	139212	DNAAF6	OMIM:300991
HP:0002205	Recurrent respiratory infections	331	XIAP	OMIM:300635
HP:0002205	Recurrent respiratory infections	331	XIAP	OMIM:308240
HP:0002205	Recurrent respiratory infections	89891	DYNC2I2	OMIM:615633
HP:0002205	Recurrent respiratory infections	10806	SDCCAG8	OMIM:615993
HP:0002205	Recurrent respiratory infections	10309	CCNO	OMIM:615872
HP:0002205	Recurrent respiratory infections	23394	ADNP	OMIM:615873
HP:0002205	Recurrent respiratory infections	8818	DPM2	ORPHA:329178
HP:0002205	Recurrent respiratory infections	5293	PIK3CD	OMIM:615513
HP:0002205	Recurrent respiratory infections	8737	RIPK1	OMIM:618108
HP:0002205	Recurrent respiratory infections	4173	MCM4	OMIM:609981
HP:0002205	Recurrent respiratory infections	113235	SLC46A1	ORPHA:90045
HP:0002205	Recurrent respiratory infections	100033413	SNORD116-1	OMIM:176270
HP:0002205	Recurrent respiratory infections	8924	HERC2	OMIM:176270
HP:0002205	Recurrent respiratory infections	23742	NPAP1	OMIM:176270
HP:0002205	Recurrent respiratory infections	338433	SNORD115-1	OMIM:176270
HP:0002205	Recurrent respiratory infections	7681	MKRN3	OMIM:176270
HP:0002205	Recurrent respiratory infections	145624	PWAR1	OMIM:176270
HP:0002205	Recurrent respiratory infections	3653	IPW	OMIM:176270
HP:0002205	Recurrent respiratory infections	791114	PWRN1	OMIM:176270
HP:0002205	Recurrent respiratory infections	10312	TCIRG1	ORPHA:667
HP:0002205	Recurrent respiratory infections	1186	CLCN7	ORPHA:667
HP:0002205	Recurrent respiratory infections	29887	SNX10	ORPHA:667
HP:0002205	Recurrent respiratory infections	8600	TNFSF11	ORPHA:667
HP:0002205	Recurrent respiratory infections	3981	LIG4	OMIM:606593
HP:0002205	Recurrent respiratory infections	7372	UMPS	ORPHA:30
HP:0002205	Recurrent respiratory infections	54768	HYDIN	OMIM:608647
HP:0002205	Recurrent respiratory infections	57379	AICDA	OMIM:605258
HP:0002205	Recurrent respiratory infections	1387	CREBBP	ORPHA:353281
HP:0002205	Recurrent respiratory infections	1387	CREBBP	ORPHA:353277
HP:0002205	Recurrent respiratory infections	57511	COG6	ORPHA:363523
HP:0002205	Recurrent respiratory infections	23114	NFASC	OMIM:618356
HP:0002205	Recurrent respiratory infections	4792	NFKBIA	OMIM:612132
HP:0002205	Recurrent respiratory infections	6606	SMN1	OMIM:253550
HP:0002205	Recurrent respiratory infections	6606	SMN1	OMIM:253300
HP:0002205	Recurrent respiratory infections	6905	TBCE	ORPHA:2323
HP:0002205	Recurrent respiratory infections	54014	BRWD1	OMIM:620438
HP:0002205	Recurrent respiratory infections	83479	DDX59	OMIM:174300
HP:0002205	Recurrent respiratory infections	6492	SIM1	ORPHA:398079
HP:0002205	Recurrent respiratory infections	388389	DNAAF19	OMIM:614679
HP:0002205	Recurrent respiratory infections	5660	PSAP	ORPHA:139406
HP:0002205	Recurrent respiratory infections	114803	MYSM1	OMIM:618116
HP:0002205	Recurrent respiratory infections	2033	EP300	ORPHA:353284
HP:0002205	Recurrent respiratory infections	59067	IL21	OMIM:615767
HP:0002205	Recurrent respiratory infections	7248	TSC1	ORPHA:538
HP:0002205	Recurrent respiratory infections	7249	TSC2	ORPHA:538
HP:0002205	Recurrent respiratory infections	1767	DNAH5	OMIM:608644
HP:0002205	Recurrent respiratory infections	10683	DLL3	OMIM:277300
HP:0002205	Recurrent respiratory infections	4952	OCRL	ORPHA:534
HP:0002205	Recurrent respiratory infections	4068	SH2D1A	OMIM:308240
HP:0002205	Recurrent respiratory infections	427	ASAH1	OMIM:159950
HP:0002205	Recurrent respiratory infections	79158	GNPTAB	ORPHA:576
HP:0002205	Recurrent respiratory infections	5994	RFXAP	ORPHA:572
HP:0002205	Recurrent respiratory infections	4261	CIITA	ORPHA:572
HP:0002205	Recurrent respiratory infections	5993	RFX5	ORPHA:572
HP:0002205	Recurrent respiratory infections	8625	RFXANK	ORPHA:572
HP:0002205	Recurrent respiratory infections	3106	HLA-B	ORPHA:36426
HP:0002205	Recurrent respiratory infections	10320	IKZF1	ORPHA:36426
HP:0002205	Recurrent respiratory infections	57551	TAOK1	OMIM:619575
HP:0002205	Recurrent respiratory infections	84061	MAGT1	OMIM:300853
HP:0002205	Recurrent respiratory infections	4621	MYH3	OMIM:193700
HP:0002205	Recurrent respiratory infections	3394	IRF8	OMIM:226990
HP:0002205	Recurrent respiratory infections	6335	SCN9A	ORPHA:90026
HP:0002205	Recurrent respiratory infections	11280	SCN11A	ORPHA:90026
HP:0002205	Recurrent respiratory infections	6336	SCN10A	ORPHA:90026
HP:0002205	Recurrent respiratory infections	6774	STAT3	ORPHA:2314
HP:0002205	Recurrent respiratory infections	54970	TTC12	OMIM:618801
HP:0002205	Recurrent respiratory infections	10092	ARPC5	OMIM:620565
HP:0002205	Recurrent respiratory infections	3431	SP110	ORPHA:79124
HP:0002205	Recurrent respiratory infections	55764	IFT122	OMIM:218330
HP:0002205	Recurrent respiratory infections	7703	PCGF2	OMIM:618371
HP:0002205	Recurrent respiratory infections	774	CACNA1B	OMIM:618497
HP:0002205	Recurrent respiratory infections	4478	MSN	OMIM:300988
HP:0002205	Recurrent respiratory infections	7161	TP73	OMIM:619466
HP:0002205	Recurrent respiratory infections	254428	SLC41A1	OMIM:619468
HP:0002205	Recurrent respiratory infections	51300	TIMMDC1	OMIM:618251
HP:0002205	Recurrent respiratory infections	8802	SUCLG1	ORPHA:17
HP:0002205	Recurrent respiratory infections	146206	CARMIL2	OMIM:618131
HP:0002205	Recurrent respiratory infections	3560	IL2RB	OMIM:618495
HP:0002205	Recurrent respiratory infections	84818	IL17RC	ORPHA:1334
HP:0002205	Recurrent respiratory infections	64581	CLEC7A	ORPHA:1334
HP:0002205	Recurrent respiratory infections	23765	IL17RA	ORPHA:1334
HP:0002205	Recurrent respiratory infections	23765	IL17RA	OMIM:613953
HP:0002205	Recurrent respiratory infections	10758	TRAF3IP2	ORPHA:1334
HP:0002205	Recurrent respiratory infections	112744	IL17F	ORPHA:1334
HP:0002205	Recurrent respiratory infections	860	RUNX2	ORPHA:1452
HP:0002205	Recurrent respiratory infections	25839	COG4	OMIM:613489
HP:0002205	Recurrent respiratory infections	23495	TNFRSF13B	ORPHA:1572
HP:0002205	Recurrent respiratory infections	4790	NFKB1	ORPHA:1572
HP:0002205	Recurrent respiratory infections	4791	NFKB2	ORPHA:1572
HP:0002205	Recurrent respiratory infections	115650	TNFRSF13C	ORPHA:1572
HP:0002205	Recurrent respiratory infections	1380	CR2	ORPHA:1572
HP:0002205	Recurrent respiratory infections	1380	CR2	OMIM:614699
HP:0002205	Recurrent respiratory infections	8742	TNFSF12	ORPHA:1572
HP:0002205	Recurrent respiratory infections	930	CD19	ORPHA:1572
HP:0002205	Recurrent respiratory infections	930	CD19	OMIM:613493
HP:0002205	Recurrent respiratory infections	29851	ICOS	ORPHA:1572
HP:0002205	Recurrent respiratory infections	931	MS4A1	ORPHA:1572
HP:0002205	Recurrent respiratory infections	931	MS4A1	OMIM:613495
HP:0002205	Recurrent respiratory infections	975	CD81	ORPHA:1572
HP:0002205	Recurrent respiratory infections	975	CD81	OMIM:613496
HP:0002205	Recurrent respiratory infections	359948	IRF2BP2	ORPHA:1572
HP:0002205	Recurrent respiratory infections	8883	NAE1	OMIM:620210
HP:0002205	Recurrent respiratory infections	2313	FLI1	ORPHA:2308
HP:0002205	Recurrent respiratory infections	151516	ASPRV1	ORPHA:313
HP:0002205	Recurrent respiratory infections	242	ALOX12B	ORPHA:313
HP:0002205	Recurrent respiratory infections	126410	CYP4F22	ORPHA:313
HP:0002205	Recurrent respiratory infections	6820	SULT2B1	ORPHA:313
HP:0002205	Recurrent respiratory infections	643418	LIPN	ORPHA:313
HP:0002205	Recurrent respiratory infections	59344	ALOXE3	ORPHA:313
HP:0002205	Recurrent respiratory infections	348938	NIPAL4	ORPHA:313
HP:0002205	Recurrent respiratory infections	121214	SDR9C7	ORPHA:313
HP:0002205	Recurrent respiratory infections	7051	TGM1	ORPHA:313
HP:0002205	Recurrent respiratory infections	55036	CCDC40	OMIM:613808
HP:0002205	Recurrent respiratory infections	1075	CTSC	ORPHA:678
HP:0002205	Recurrent respiratory infections	339829	CCDC39	OMIM:613807
HP:0002205	Recurrent respiratory infections	8943	AP3D1	OMIM:617050
HP:0002205	Recurrent respiratory infections	2517	FUCA1	OMIM:230000
HP:0002205	Recurrent respiratory infections	2548	GAA	OMIM:232300
HP:0002205	Recurrent respiratory infections	84665	MYPN	ORPHA:75249
HP:0002205	Recurrent respiratory infections	2318	FLNC	ORPHA:75249
HP:0002205	Recurrent respiratory infections	7139	TNNT2	ORPHA:75249
HP:0002205	Recurrent respiratory infections	7137	TNNI3	ORPHA:75249
HP:0002205	Recurrent respiratory infections	10112	KIF20A	ORPHA:75249
HP:0002205	Recurrent respiratory infections	1836	SLC26A2	ORPHA:628
HP:0002205	Recurrent respiratory infections	5184	PEPD	ORPHA:742
HP:0002205	Recurrent respiratory infections	3636	INPPL1	OMIM:258480
HP:0002205	Recurrent respiratory infections	3636	INPPL1	ORPHA:2746
HP:0002205	Recurrent respiratory infections	2077	ERF	OMIM:617180
HP:0002205	Recurrent respiratory infections	4893	NRAS	OMIM:614470
HP:0002205	Recurrent respiratory infections	3845	KRAS	OMIM:614470
HP:0002205	Recurrent respiratory infections	374354	NHLRC2	OMIM:618278
HP:0002205	Recurrent respiratory infections	55617	TASP1	OMIM:618950
HP:0002205	Recurrent respiratory infections	54790	TET2	OMIM:619126
HP:0002205	Recurrent respiratory infections	8239	USP9X	OMIM:300968
HP:0002205	Recurrent respiratory infections	51124	IER3IP1	OMIM:614231
HP:0002205	Recurrent respiratory infections	57477	SHROOM4	ORPHA:85288
HP:0002205	Recurrent respiratory infections	83737	ITCH	OMIM:613385
HP:0002205	Recurrent respiratory infections	84340	GFM2	OMIM:618397
HP:0002205	Recurrent respiratory infections	10398	MYL9	OMIM:619365
HP:0002205	Recurrent respiratory infections	10293	TRAIP	OMIM:616777
HP:0002205	Recurrent respiratory infections	6911	TBX6	ORPHA:1797
HP:0002205	Recurrent respiratory infections	11005	SPINK5	OMIM:256500
HP:0002205	Recurrent respiratory infections	11005	SPINK5	ORPHA:634
HP:0002205	Recurrent respiratory infections	51364	ZMYND10	OMIM:615444
HP:0002205	Recurrent respiratory infections	2890	GRIA1	OMIM:619927
HP:0002205	Recurrent respiratory infections	50615	IL21R	OMIM:615207
HP:0002205	Recurrent respiratory infections	7297	TYK2	OMIM:611521
HP:0002205	Recurrent respiratory infections	60482	SLC5A7	ORPHA:98914
HP:0002205	Recurrent respiratory infections	4649	MYO9A	ORPHA:98914
HP:0002205	Recurrent respiratory infections	1305	COL13A1	ORPHA:98914
HP:0002205	Recurrent respiratory infections	1103	CHAT	ORPHA:98914
HP:0002205	Recurrent respiratory infections	6576	SLC25A1	ORPHA:98914
HP:0002205	Recurrent respiratory infections	6843	VAMP1	ORPHA:98914
HP:0002205	Recurrent respiratory infections	375790	AGRN	ORPHA:98914
HP:0002205	Recurrent respiratory infections	127833	SYT2	ORPHA:98914
HP:0002205	Recurrent respiratory infections	6572	SLC18A3	ORPHA:98914
HP:0002205	Recurrent respiratory infections	6616	SNAP25	ORPHA:98914
HP:0002205	Recurrent respiratory infections	84433	CARD11	OMIM:615206
HP:0002205	Recurrent respiratory infections	6337	SCNN1A	OMIM:264350
HP:0002205	Recurrent respiratory infections	1893	ECM1	ORPHA:530
HP:0002205	Recurrent respiratory infections	925	CD8A	OMIM:608957
HP:0002205	Recurrent respiratory infections	84905	ZNF341	OMIM:618282
HP:0002205	Recurrent respiratory infections	9895	TECPR2	ORPHA:320385
HP:0002205	Recurrent respiratory infections	4938	OAS1	OMIM:618042
HP:0002205	Recurrent respiratory infections	8651	SOCS1	OMIM:619375
HP:0002205	Recurrent respiratory infections	738	VPS51	OMIM:618606
HP:0002205	Recurrent respiratory infections	5116	PCNT	ORPHA:2637
HP:0002205	Recurrent respiratory infections	5430	POLR2A	OMIM:618603
HP:0002205	Recurrent respiratory infections	2624	GATA2	ORPHA:228423
HP:0002205	Recurrent respiratory infections	4683	NBN	ORPHA:647
HP:0002205	Recurrent respiratory infections	23522	KAT6B	ORPHA:3047
HP:0002205	Recurrent respiratory infections	26123	TCTN3	ORPHA:2753
HP:0002205	Recurrent respiratory infections	10516	FBLN5	OMIM:219100
HP:0002205	Recurrent respiratory infections	9897	WASHC5	ORPHA:7
HP:0002205	Recurrent respiratory infections	28952	CCDC22	ORPHA:7
HP:0002205	Recurrent respiratory infections	57020	VPS35L	ORPHA:7
HP:0002205	Recurrent respiratory infections	56896	DPYSL5	ORPHA:7
HP:0002205	Recurrent respiratory infections	4860	PNP	ORPHA:760
HP:0002205	Recurrent respiratory infections	4204	MECP2	OMIM:300260
HP:0002205	Recurrent respiratory infections	129285	PPP1R21	OMIM:619383
HP:0002205	Recurrent respiratory infections	80169	CTC1	ORPHA:1775
HP:0002205	Recurrent respiratory infections	26277	TINF2	ORPHA:1775
HP:0002205	Recurrent respiratory infections	55651	NHP2	ORPHA:1775
HP:0002205	Recurrent respiratory infections	79650	USB1	ORPHA:1775
HP:0002205	Recurrent respiratory infections	55135	WRAP53	ORPHA:1775
HP:0002205	Recurrent respiratory infections	51750	RTEL1	ORPHA:1775
HP:0002205	Recurrent respiratory infections	4869	NPM1	ORPHA:1775
HP:0002205	Recurrent respiratory infections	7012	TERC	ORPHA:1775
HP:0002205	Recurrent respiratory infections	55505	NOP10	ORPHA:1775
HP:0002205	Recurrent respiratory infections	5073	PARN	ORPHA:1775
HP:0002205	Recurrent respiratory infections	7015	TERT	ORPHA:1775
HP:0002205	Recurrent respiratory infections	1736	DKC1	ORPHA:1775
HP:0002205	Recurrent respiratory infections	7298	TYMS	ORPHA:1775
HP:0002205	Recurrent respiratory infections	6892	TAPBP	OMIM:620814
HP:0002205	Recurrent respiratory infections	406932	MIR140	OMIM:618618
HP:0002205	Recurrent respiratory infections	6891	TAP2	OMIM:620813
HP:0002205	Recurrent respiratory infections	25871	NEPRO	OMIM:618853
HP:0002205	Recurrent respiratory infections	352909	DNAAF3	OMIM:606763
HP:0002205	Recurrent respiratory infections	23639	DNAAF11	OMIM:614935
HP:0002205	Recurrent respiratory infections	9325	TRIP4	ORPHA:486815
HP:0002205	Recurrent respiratory infections	695	BTK	OMIM:300755
HP:0002205	Recurrent respiratory infections	1291	COL6A1	OMIM:254090
HP:0002205	Recurrent respiratory infections	10664	CTCF	ORPHA:363611
HP:0002205	Recurrent respiratory infections	29775	CARD10	OMIM:619632
HP:0002205	Recurrent respiratory infections	6340	SCNN1G	ORPHA:60033
HP:0002205	Recurrent respiratory infections	6338	SCNN1B	ORPHA:60033
HP:0002205	Recurrent respiratory infections	213	ALB	OMIM:616000
HP:0002205	Recurrent respiratory infections	213	ALB	ORPHA:86816
HP:0002205	Recurrent respiratory infections	57282	SLC4A10	OMIM:620746
HP:0002205	Recurrent respiratory infections	79912	PYROXD1	OMIM:617258
HP:0002205	Recurrent respiratory infections	5580	PRKCD	OMIM:615559
HP:0002205	Recurrent respiratory infections	2622	GAS8	OMIM:616726
HP:0002205	Recurrent respiratory infections	3932	LCK	OMIM:615758
HP:0002205	Recurrent respiratory infections	3659	IRF1	OMIM:620668
HP:0002205	Recurrent respiratory infections	8021	NUP214	OMIM:618426
HP:0002205	Recurrent respiratory infections	54440	SASH3	OMIM:301082
HP:0002205	Recurrent respiratory infections	6789	STK4	OMIM:614868
HP:0002205	Recurrent respiratory infections	959	CD40LG	OMIM:308230
HP:0002205	Recurrent respiratory infections	79759	ZNF668	OMIM:620194
HP:0002205	Recurrent respiratory infections	3575	IL7R	ORPHA:169154
HP:0002205	Recurrent respiratory infections	57169	ZNFX1	OMIM:619644
HP:0002205	Recurrent respiratory infections	6809	STX3	OMIM:619446
HP:0002205	Recurrent respiratory infections	1289	COL5A1	OMIM:130000
HP:0002205	Recurrent respiratory infections	11151	CORO1A	OMIM:615401
HP:0002205	Recurrent respiratory infections	8547	FCN3	OMIM:613860
HP:0002205	Recurrent respiratory infections	5424	POLD1	OMIM:620836
HP:0002205	Recurrent respiratory infections	10525	HYOU1	OMIM:233600
HP:0002205	Recurrent respiratory infections	4780	NFE2L2	OMIM:617744
HP:0002205	Recurrent respiratory infections	5591	PRKDC	OMIM:615966
HP:0002205	Recurrent respiratory infections	91869	RFT1	OMIM:612015
HP:0002205	Recurrent respiratory infections	8292	COLQ	ORPHA:98915
HP:0002205	Recurrent respiratory infections	3913	LAMB2	ORPHA:98915
HP:0002205	Recurrent respiratory infections	6662	SOX9	OMIM:114290
HP:0002205	Recurrent respiratory infections	868	CBLB	OMIM:620430
HP:0002205	Recurrent respiratory infections	10551	AGR2	OMIM:620233
HP:0002205	Recurrent respiratory infections	29927	SEC61A1	OMIM:620670
HP:0002205	Recurrent respiratory infections	3908	LAMA2	ORPHA:258
HP:0002205	Recurrent respiratory infections	57609	DIP2B	OMIM:136630
HP:0002205	Recurrent respiratory infections	3604	TNFRSF9	OMIM:620282
HP:0002205	Recurrent respiratory infections	4718	NDUFC2	OMIM:619170
HP:0002205	Recurrent respiratory infections	3978	LIG1	OMIM:619774
HP:0002205	Recurrent respiratory infections	2530	FUT8	OMIM:618005
HP:0002205	Recurrent respiratory infections	1292	COL6A2	OMIM:620727
HP:0002205	Recurrent respiratory infections	6573	SLC19A1	OMIM:620603
HP:0002205	Recurrent respiratory infections	9020	MAP3K14	OMIM:620449
HP:0002205	Recurrent respiratory infections	50628	GEMIN4	OMIM:617913
HP:0002205	Recurrent respiratory infections	5426	POLE	OMIM:615139
HP:0002205	Recurrent respiratory infections	5718	PSMD12	OMIM:617516
HP:0002205	Recurrent respiratory infections	92344	GORAB	OMIM:231070
HP:0002205	Recurrent respiratory infections	713	C1QB	OMIM:620321
HP:0002205	Recurrent respiratory infections	1604	CD55	OMIM:226300
HP:0002205	Recurrent respiratory infections	7174	TPP2	OMIM:619220
HP:0002205	Recurrent respiratory infections	115399	LRRC56	OMIM:618254
HP:0002205	Recurrent respiratory infections	4591	TRIM37	OMIM:253250
HP:0002205	Recurrent respiratory infections	2302	FOXJ1	OMIM:618699
HP:0002205	Recurrent respiratory infections	10125	RASGRP1	OMIM:618534
HP:0002205	Recurrent respiratory infections	7407	VARS1	OMIM:617802
HP:0002205	Recurrent respiratory infections	6304	SATB1	OMIM:619229
HP:0002205	Recurrent respiratory infections	9138	ARHGEF1	OMIM:618459
HP:0002205	Recurrent respiratory infections	164781	DAW1	OMIM:620570
HP:0002205	Recurrent respiratory infections	100	ADA	ORPHA:277
HP:0002205	Recurrent respiratory infections	83483	PLVAP	OMIM:618183
HP:0002205	Recurrent respiratory infections	6448	SGSH	OMIM:252900
HP:0002205	Recurrent respiratory infections	84320	ACBD6	OMIM:620785
HP:0002205	Recurrent respiratory infections	9094	UNC119	OMIM:615518
HP:0002205	Recurrent respiratory infections	411	ARSB	OMIM:253200
HP:0002205	Recurrent respiratory infections	6813	STXBP2	OMIM:613101
HP:0002205	Recurrent respiratory infections	57465	TBC1D24	ORPHA:352596
HP:0002205	Recurrent respiratory infections	2314	FLII	ORPHA:819
HP:0002205	Recurrent respiratory infections	23096	IQSEC2	ORPHA:819
HP:0002205	Recurrent respiratory infections	10743	RAI1	ORPHA:819
HP:0002205	Recurrent respiratory infections	10522	DEAF1	ORPHA:819
HP:0002205	Recurrent respiratory infections	3952	LEP	ORPHA:66628
HP:0002205	Recurrent respiratory infections	3952	LEP	OMIM:614962
HP:0002205	Recurrent respiratory infections	4784	NFIX	OMIM:602535
HP:0002205	Recurrent respiratory infections	7852	CXCR4	OMIM:193670
HP:0002205	Recurrent respiratory infections	7852	CXCR4	ORPHA:51636
HP:0002205	Recurrent respiratory infections	6597	SMARCA4	ORPHA:1465
HP:0002205	Recurrent respiratory infections	6598	SMARCB1	ORPHA:1465
HP:0002205	Recurrent respiratory infections	6659	SOX4	ORPHA:1465
HP:0002205	Recurrent respiratory infections	8289	ARID1A	ORPHA:1465
HP:0002205	Recurrent respiratory infections	5977	DPF2	ORPHA:1465
HP:0002205	Recurrent respiratory infections	6601	SMARCC2	ORPHA:1465
HP:0002205	Recurrent respiratory infections	6602	SMARCD1	ORPHA:1465
HP:0002205	Recurrent respiratory infections	196528	ARID2	ORPHA:1465
HP:0002205	Recurrent respiratory infections	6605	SMARCE1	ORPHA:1465
HP:0002205	Recurrent respiratory infections	6664	SOX11	ORPHA:1465
HP:0002205	Recurrent respiratory infections	3423	IDS	ORPHA:217085
HP:0002205	Recurrent respiratory infections	3423	IDS	ORPHA:217093
HP:0002205	Recurrent respiratory infections	3953	LEPR	OMIM:614963
HP:0002205	Recurrent respiratory infections	3953	LEPR	ORPHA:179494
HP:0002205	Recurrent respiratory infections	8456	FOXN1	OMIM:618806
HP:0002205	Recurrent respiratory infections	2720	GLB1	OMIM:253010
HP:0002205	Recurrent respiratory infections	3055	HCK	OMIM:620296
HP:0002205	Recurrent respiratory infections	7840	ALMS1	ORPHA:64
HP:0002205	Recurrent respiratory infections	3852	KRT5	OMIM:619599
HP:0002205	Recurrent respiratory infections	2588	GALNS	OMIM:253000
HP:0002205	Recurrent respiratory infections	920	CD4	OMIM:619238
HP:0002205	Recurrent respiratory infections	3570	IL6R	OMIM:618944
HP:0002205	Recurrent respiratory infections	6050	RNH1	OMIM:620461
HP:0002205	Recurrent respiratory infections	5971	RELB	OMIM:617585
HP:0002205	Recurrent respiratory infections	79803	HPS6	OMIM:614075
HP:0002205	Recurrent respiratory infections	641	BLM	OMIM:210900
HP:0002205	Recurrent respiratory infections	5340	PLG	OMIM:217090
HP:0002205	Recurrent respiratory infections	51341	ZBTB7A	OMIM:619769
HP:0002205	Recurrent respiratory infections	2799	GNS	OMIM:252940
HP:0002205	Recurrent respiratory infections	23247	KATNIP	OMIM:616784
HP:0002205	Recurrent respiratory infections	138050	HGSNAT	OMIM:252930
HP:0002205	Recurrent respiratory infections	64421	DCLRE1C	OMIM:602450
HP:0002205	Recurrent respiratory infections	2542	SLC37A4	OMIM:232240
HP:0002205	Recurrent respiratory infections	55023	PHIP	ORPHA:589905
HP:0002205	Recurrent respiratory infections	7388	UQCRH	OMIM:620137
HP:0002205	Recurrent respiratory infections	5696	PSMB8	OMIM:256040
HP:0002205	Recurrent respiratory infections	4669	NAGLU	OMIM:252920
HP:0002205	Recurrent respiratory infections	54808	DYM	ORPHA:239
HP:0002205	Recurrent respiratory infections	83844	USP26	OMIM:301101
HP:0002205	Recurrent respiratory infections	139818	DOCK11	OMIM:301109
HP:0002205	Recurrent respiratory infections	23308	ICOSLG	OMIM:620825
HP:0002205	Recurrent respiratory infections	3588	IL10RB	OMIM:612567
HP:0002205	Recurrent respiratory infections	6890	TAP1	OMIM:604571
HP:0002205	Recurrent respiratory infections	3561	IL2RG	OMIM:312863
HP:0002205	Recurrent respiratory infections	6901	TAFAZZIN	OMIM:302060
HP:0002205	Recurrent respiratory infections	26834	RNU4-2	OMIM:620851
HP:0002205	Recurrent respiratory infections	91039	DPP9	OMIM:620331
HP:0002205	Recurrent respiratory infections	64864	RFX7	OMIM:620330
HP:0002205	Recurrent respiratory infections	57731	SPTBN4	OMIM:617519
HP:0002205	Recurrent respiratory infections	3426	CFI	OMIM:610984
HP:0002205	Recurrent respiratory infections	51135	IRAK4	ORPHA:70592
HP:0002205	Recurrent respiratory infections	25981	DNAH1	ORPHA:244
HP:0002205	Recurrent respiratory infections	27148	STK36	ORPHA:244
HP:0002205	Recurrent respiratory infections	92749	DRC1	ORPHA:244
HP:0002205	Recurrent respiratory infections	152110	NEK10	ORPHA:244
HP:0002205	Recurrent respiratory infections	64446	DNAI2	ORPHA:244
HP:0002205	Recurrent respiratory infections	8382	NME5	ORPHA:244
HP:0002205	Recurrent respiratory infections	83544	DNAL1	ORPHA:244
HP:0002205	Recurrent respiratory infections	89765	RSPH1	ORPHA:244
HP:0002205	Recurrent respiratory infections	83538	ODAD4	ORPHA:244
HP:0002205	Recurrent respiratory infections	200373	CFAP221	ORPHA:244
HP:0002205	Recurrent respiratory infections	374407	DNAJB13	ORPHA:244
HP:0002205	Recurrent respiratory infections	55172	DNAAF2	ORPHA:244
HP:0002205	Recurrent respiratory infections	27019	DNAI1	ORPHA:244
HP:0002205	Recurrent respiratory infections	54919	DNAAF5	ORPHA:244
HP:0002205	Recurrent respiratory infections	6103	RPGR	ORPHA:244
HP:0002205	Recurrent respiratory infections	55130	ODAD2	ORPHA:244
HP:0002205	Recurrent respiratory infections	345643	MCIDAS	ORPHA:244
HP:0002205	Recurrent respiratory infections	79925	SPEF2	ORPHA:244
HP:0002205	Recurrent respiratory infections	123872	DNAAF1	ORPHA:244
HP:0002205	Recurrent respiratory infections	85016	CFAP300	ORPHA:244
HP:0002205	Recurrent respiratory infections	8701	DNAH11	ORPHA:244
HP:0002205	Recurrent respiratory infections	1770	DNAH9	ORPHA:244
HP:0002205	Recurrent respiratory infections	246176	GAS2L2	ORPHA:244
HP:0002205	Recurrent respiratory infections	6728	SRP19	ORPHA:486
HP:0002205	Recurrent respiratory infections	1991	ELANE	ORPHA:486
HP:0002205	Recurrent respiratory infections	2672	GFI1	ORPHA:486
HP:0002205	Recurrent respiratory infections	81570	CLPB	ORPHA:486
HP:0002205	Recurrent respiratory infections	7037	TFRC	OMIM:616740
HP:0002205	Recurrent respiratory infections	60468	BACH2	OMIM:618394
HP:0002205	Recurrent respiratory infections	23545	ATP6V0A2	ORPHA:2834
HP:0002205	Recurrent respiratory infections	841	CASP8	OMIM:607271
HP:0002205	Recurrent respiratory infections	5336	PLCG2	OMIM:614878
HP:0002205	Recurrent respiratory infections	5336	PLCG2	OMIM:614468
HP:0002205	Recurrent respiratory infections	56259	CTNNBL1	OMIM:619846
HP:0002205	Recurrent respiratory infections	5294	PIK3CG	OMIM:619802
HP:0002205	Recurrent respiratory infections	3476	IGBP1	OMIM:300472
HP:0002205	Recurrent respiratory infections	2137	EXTL3	ORPHA:508533
HP:0002205	Recurrent respiratory infections	2137	EXTL3	OMIM:617425
HP:0002205	Recurrent respiratory infections	4921	DDR2	OMIM:271665
HP:0002205	Recurrent respiratory infections	3763	KCNJ6	ORPHA:435628
HP:0002205	Recurrent respiratory infections	3763	KCNJ6	OMIM:614098
HP:0002205	Recurrent respiratory infections	5351	PLOD1	OMIM:225400
HP:0002205	Recurrent respiratory infections	5351	PLOD1	ORPHA:1900
HP:0002205	Recurrent respiratory infections	6477	SIAH1	OMIM:619314
HP:0002205	Recurrent respiratory infections	8425	LTBP4	OMIM:613177
HP:0002205	Recurrent respiratory infections	11133	KPTN	OMIM:615637
HP:0002205	Recurrent respiratory infections	11133	KPTN	ORPHA:397612
HP:0002205	Recurrent respiratory infections	57539	WDR35	OMIM:613610
HP:0002205	Recurrent respiratory infections	81857	MED25	OMIM:616449
HP:0002205	Recurrent respiratory infections	81857	MED25	ORPHA:464738
HP:0002205	Recurrent respiratory infections	100151683	RNU4ATAC	ORPHA:353298
HP:0002205	Recurrent respiratory infections	100151683	RNU4ATAC	OMIM:616651
HP:0002205	Recurrent respiratory infections	755	CFAP410	OMIM:602271
HP:0002205	Recurrent respiratory infections	126792	B3GALT6	OMIM:609465
HP:0002205	Recurrent respiratory infections	6720	SREBF1	OMIM:158310
HP:0002205	Recurrent respiratory infections	1302	COL11A2	OMIM:215150
HP:0002205	Recurrent respiratory infections	4522	MTHFD1	OMIM:617780
HP:0002205	Recurrent respiratory infections	9948	WDR1	OMIM:150550
HP:0002205	Recurrent respiratory infections	939	CD27	OMIM:615122
HP:0002205	Recurrent respiratory infections	23149	FCHO1	OMIM:619164
HP:0002205	Recurrent respiratory infections	10157	AASS	ORPHA:2203
HP:0002205	Recurrent respiratory infections	56246	MRAP	OMIM:607398
HP:0002205	Recurrent respiratory infections	6440	SFTPC	OMIM:610913
HP:0002205	Recurrent respiratory infections	3417	IDH1	ORPHA:99646
HP:0002205	Recurrent respiratory infections	6904	TBCD	ORPHA:496641
HP:0002205	Recurrent respiratory infections	919	CD247	ORPHA:169160
HP:0002205	Recurrent respiratory infections	919	CD247	OMIM:610163
HP:0002205	Recurrent respiratory infections	4001	LMNB1	OMIM:619179
HP:0002205	Recurrent respiratory infections	7084	TK2	ORPHA:254875
HP:0002205	Recurrent respiratory infections	1956	EGFR	OMIM:616069
HP:0002205	Recurrent respiratory infections	6786	STIM1	OMIM:612783
HP:0002205	Recurrent respiratory infections	8792	TNFRSF11A	OMIM:612301
HP:0002205	Recurrent respiratory infections	10095	ARPC1B	OMIM:617718
HP:0002205	Recurrent respiratory infections	8546	AP3B1	OMIM:608233
HP:0002205	Recurrent respiratory infections	6899	TBX1	OMIM:188400
HP:0002205	Recurrent respiratory infections	1053	CEBPE	OMIM:245480
HP:0002205	Recurrent respiratory infections	54681	P4HTM	OMIM:618493
HP:0002205	Recurrent respiratory infections	23594	ORC6	OMIM:613803
HP:0002205	Recurrent respiratory infections	26040	SETBP1	ORPHA:798
HP:0002205	Recurrent respiratory infections	2074	ERCC6	OMIM:214150
HP:0002205	Recurrent respiratory infections	2328	FMO3	OMIM:602079
HP:0002205	Recurrent respiratory infections	718	C3	OMIM:613779
HP:0002205	Recurrent respiratory infections	4796	TONSL	ORPHA:93357
HP:0002205	Recurrent respiratory infections	199221	DZIP1L	ORPHA:731
HP:0002205	Recurrent respiratory infections	5314	PKHD1	ORPHA:731
HP:0002205	Recurrent respiratory infections	55343	SLC35C1	ORPHA:99843
HP:0002205	Recurrent respiratory infections	5422	POLA1	OMIM:301220
HP:0002205	Recurrent respiratory infections	5317	PKP1	ORPHA:158668
HP:0002205	Recurrent respiratory infections	54941	RNF125	OMIM:616260
HP:0002205	Recurrent respiratory infections	5879	RAC1	OMIM:617751
HP:0002205	Recurrent respiratory infections	5879	RAC1	ORPHA:500159
HP:0002205	Recurrent respiratory infections	6603	SMARCD2	OMIM:617475
HP:0002205	Recurrent respiratory infections	10747	MASP2	OMIM:613791
HP:0002205	Recurrent respiratory infections	27040	LAT	OMIM:617514
HP:0002205	Recurrent respiratory infections	4052	LTBP1	ORPHA:90349
HP:0002205	Recurrent respiratory infections	30008	EFEMP2	ORPHA:90349
HP:0002205	Recurrent respiratory infections	84466	MEGF10	OMIM:620249
HP:0002205	Recurrent respiratory infections	79645	CLXN	OMIM:620642
HP:0002205	Recurrent respiratory infections	57728	WDR19	OMIM:614378
HP:0002205	Recurrent respiratory infections	721	C4B	OMIM:614379
HP:0002205	Recurrent respiratory infections	1794	DOCK2	OMIM:616433
HP:0002205	Recurrent respiratory infections	284119	CAVIN1	OMIM:613327
HP:0002205	Recurrent respiratory infections	871	SERPINH1	OMIM:613848
HP:0002205	Recurrent respiratory infections	55294	FBXW7	OMIM:620012
HP:0002205	Recurrent respiratory infections	165918	RNF168	ORPHA:420741
HP:0002205	Recurrent respiratory infections	5813	PURA	ORPHA:314655
HP:0002205	Recurrent respiratory infections	2212	FCGR2A	OMIM:219700
HP:0002205	Recurrent respiratory infections	28956	LAMTOR2	OMIM:610798
HP:0002205	Recurrent respiratory infections	28956	LAMTOR2	ORPHA:90023
HP:0002205	Recurrent respiratory infections	404672	GTF2H5	ORPHA:33364
HP:0002205	Recurrent respiratory infections	833	CARS1	ORPHA:33364
HP:0002205	Recurrent respiratory infections	2068	ERCC2	ORPHA:33364
HP:0002205	Recurrent respiratory infections	7737	RNF113A	ORPHA:33364
HP:0002205	Recurrent respiratory infections	136647	MPLKIP	ORPHA:33364
HP:0002205	Recurrent respiratory infections	6897	TARS1	ORPHA:33364
HP:0002205	Recurrent respiratory infections	16	AARS1	ORPHA:33364
HP:0002205	Recurrent respiratory infections	2071	ERCC3	ORPHA:33364
HP:0002205	Recurrent respiratory infections	2961	GTF2E2	ORPHA:33364
HP:0002205	Recurrent respiratory infections	54499	TMCO1	OMIM:213980
HP:0002205	Recurrent respiratory infections	51816	ADA2	OMIM:615688
HP:0002205	Recurrent respiratory infections	1290	COL5A2	OMIM:130010
HP:0002205	Recurrent respiratory infections	10625	IVNS1ABP	OMIM:618969
HP:0002205	Recurrent respiratory infections	4194	MDM4	OMIM:618849
HP:0002205	Recurrent respiratory infections	29110	TBK1	OMIM:620880
HP:0002205	Recurrent respiratory infections	8517	IKBKG	ORPHA:98813
HP:0002205	Recurrent respiratory infections	65055	REEP1	OMIM:620011
HP:0002205	Recurrent respiratory infections	5339	PLEC	ORPHA:254361
HP:0002205	Recurrent respiratory infections	5832	ALDH18A1	ORPHA:90348
HP:0002205	Recurrent respiratory infections	7403	KDM6A	OMIM:147920
HP:0002205	Recurrent respiratory infections	3123	HLA-DRB1	ORPHA:397
HP:0002205	Recurrent respiratory infections	8974	P4HA2	ORPHA:397
HP:0002205	Recurrent respiratory infections	55315	SLC29A3	ORPHA:168569
HP:0002205	Recurrent respiratory infections	7132	TNFRSF1A	ORPHA:32960
HP:0002205	Recurrent respiratory infections	2737	GLI3	ORPHA:672
HP:0002205	Recurrent respiratory infections	4247	MGAT2	ORPHA:79329
HP:0002205	Recurrent respiratory infections	7374	UNG	OMIM:608106
HP:0002205	Recurrent respiratory infections	29969	MDFIC	OMIM:620014
HP:0002205	Recurrent respiratory infections	5728	PTEN	ORPHA:397596
HP:0002788	Recurrent upper respiratory tract infections	100	ADA	ORPHA:277
HP:0002788	Recurrent upper respiratory tract infections	83483	PLVAP	OMIM:618183
HP:0002788	Recurrent upper respiratory tract infections	6448	SGSH	OMIM:252900
HP:0002788	Recurrent upper respiratory tract infections	23394	ADNP	ORPHA:404448
HP:0002788	Recurrent upper respiratory tract infections	4791	NFKB2	ORPHA:293978
HP:0002788	Recurrent upper respiratory tract infections	1493	CTLA4	ORPHA:436159
HP:0002788	Recurrent upper respiratory tract infections	1493	CTLA4	OMIM:616100
HP:0002788	Recurrent upper respiratory tract infections	4860	PNP	OMIM:613179
HP:0002788	Recurrent upper respiratory tract infections	3932	LCK	OMIM:615758
HP:0002788	Recurrent upper respiratory tract infections	84320	ACBD6	OMIM:620785
HP:0002788	Recurrent upper respiratory tract infections	9094	UNC119	OMIM:615518
HP:0002788	Recurrent upper respiratory tract infections	411	ARSB	OMIM:253200
HP:0002788	Recurrent upper respiratory tract infections	114803	MYSM1	ORPHA:508542
HP:0002788	Recurrent upper respiratory tract infections	3718	JAK3	OMIM:600802
HP:0002788	Recurrent upper respiratory tract infections	6809	STX3	OMIM:619446
HP:0002788	Recurrent upper respiratory tract infections	11151	CORO1A	OMIM:615401
HP:0002788	Recurrent upper respiratory tract infections	6813	STXBP2	OMIM:613101
HP:0002788	Recurrent upper respiratory tract infections	57465	TBC1D24	ORPHA:352596
HP:0002788	Recurrent upper respiratory tract infections	5424	POLD1	OMIM:620836
HP:0002788	Recurrent upper respiratory tract infections	10525	HYOU1	OMIM:233600
HP:0002788	Recurrent upper respiratory tract infections	2314	FLII	ORPHA:819
HP:0002788	Recurrent upper respiratory tract infections	23096	IQSEC2	ORPHA:819
HP:0002788	Recurrent upper respiratory tract infections	10743	RAI1	ORPHA:819
HP:0002788	Recurrent upper respiratory tract infections	10522	DEAF1	ORPHA:819
HP:0002788	Recurrent upper respiratory tract infections	3952	LEP	ORPHA:66628
HP:0002788	Recurrent upper respiratory tract infections	3952	LEP	OMIM:614962
HP:0002788	Recurrent upper respiratory tract infections	6662	SOX9	OMIM:114290
HP:0002788	Recurrent upper respiratory tract infections	427	ASAH1	ORPHA:333
HP:0002788	Recurrent upper respiratory tract infections	25839	COG4	ORPHA:263501
HP:0002788	Recurrent upper respiratory tract infections	4784	NFIX	OMIM:602535
HP:0002788	Recurrent upper respiratory tract infections	7852	CXCR4	OMIM:193670
HP:0002788	Recurrent upper respiratory tract infections	7852	CXCR4	ORPHA:51636
HP:0002788	Recurrent upper respiratory tract infections	6597	SMARCA4	ORPHA:1465
HP:0002788	Recurrent upper respiratory tract infections	6598	SMARCB1	ORPHA:1465
HP:0002788	Recurrent upper respiratory tract infections	6659	SOX4	ORPHA:1465
HP:0002788	Recurrent upper respiratory tract infections	8289	ARID1A	ORPHA:1465
HP:0002788	Recurrent upper respiratory tract infections	5977	DPF2	ORPHA:1465
HP:0002788	Recurrent upper respiratory tract infections	6601	SMARCC2	ORPHA:1465
HP:0002788	Recurrent upper respiratory tract infections	6602	SMARCD1	ORPHA:1465
HP:0002788	Recurrent upper respiratory tract infections	57492	ARID1B	ORPHA:1465
HP:0002788	Recurrent upper respiratory tract infections	196528	ARID2	ORPHA:1465
HP:0002788	Recurrent upper respiratory tract infections	6605	SMARCE1	ORPHA:1465
HP:0002788	Recurrent upper respiratory tract infections	6664	SOX11	ORPHA:1465
HP:0002788	Recurrent upper respiratory tract infections	3423	IDS	ORPHA:217085
HP:0002788	Recurrent upper respiratory tract infections	3423	IDS	ORPHA:217093
HP:0002788	Recurrent upper respiratory tract infections	92579	G6PC3	OMIM:612541
HP:0002788	Recurrent upper respiratory tract infections	5631	PRPS1	ORPHA:1187
HP:0002788	Recurrent upper respiratory tract infections	5631	PRPS1	OMIM:301835
HP:0002788	Recurrent upper respiratory tract infections	5426	POLE	OMIM:615139
HP:0002788	Recurrent upper respiratory tract infections	3953	LEPR	OMIM:614963
HP:0002788	Recurrent upper respiratory tract infections	3953	LEPR	ORPHA:179494
HP:0002788	Recurrent upper respiratory tract infections	8456	FOXN1	OMIM:618806
HP:0002788	Recurrent upper respiratory tract infections	79087	ALG12	OMIM:607143
HP:0002788	Recurrent upper respiratory tract infections	146206	CARMIL2	OMIM:618131
HP:0002788	Recurrent upper respiratory tract infections	2720	GLB1	OMIM:253010
HP:0002788	Recurrent upper respiratory tract infections	3055	HCK	OMIM:620296
HP:0002788	Recurrent upper respiratory tract infections	7840	ALMS1	ORPHA:64
HP:0002788	Recurrent upper respiratory tract infections	6772	STAT1	ORPHA:391487
HP:0002788	Recurrent upper respiratory tract infections	7454	WAS	OMIM:301000
HP:0002788	Recurrent upper respiratory tract infections	3572	IL6ST	OMIM:619752
HP:0002788	Recurrent upper respiratory tract infections	3852	KRT5	OMIM:619599
HP:0002788	Recurrent upper respiratory tract infections	2033	EP300	OMIM:180849
HP:0002788	Recurrent upper respiratory tract infections	2033	EP300	OMIM:618333
HP:0002788	Recurrent upper respiratory tract infections	1387	CREBBP	OMIM:180849
HP:0002788	Recurrent upper respiratory tract infections	1387	CREBBP	ORPHA:592574
HP:0002788	Recurrent upper respiratory tract infections	1387	CREBBP	OMIM:618332
HP:0002788	Recurrent upper respiratory tract infections	4261	CIITA	OMIM:209920
HP:0002788	Recurrent upper respiratory tract infections	2588	GALNS	OMIM:253000
HP:0002788	Recurrent upper respiratory tract infections	6774	STAT3	OMIM:615952
HP:0002788	Recurrent upper respiratory tract infections	6774	STAT3	OMIM:147060
HP:0002788	Recurrent upper respiratory tract infections	5295	PIK3R1	OMIM:616005
HP:0002788	Recurrent upper respiratory tract infections	57282	SLC4A10	OMIM:620746
HP:0002788	Recurrent upper respiratory tract infections	9841	ZBTB24	OMIM:614069
HP:0002788	Recurrent upper respiratory tract infections	5580	PRKCD	OMIM:615559
HP:0002788	Recurrent upper respiratory tract infections	920	CD4	OMIM:619238
HP:0002788	Recurrent upper respiratory tract infections	3570	IL6R	OMIM:618944
HP:0002788	Recurrent upper respiratory tract infections	54440	SASH3	OMIM:301082
HP:0002788	Recurrent upper respiratory tract infections	6789	STK4	OMIM:614868
HP:0002788	Recurrent upper respiratory tract infections	6050	RNH1	OMIM:620461
HP:0002788	Recurrent upper respiratory tract infections	3575	IL7R	ORPHA:169154
HP:0002788	Recurrent upper respiratory tract infections	51360	MBTPS2	OMIM:308205
HP:0002788	Recurrent upper respiratory tract infections	27086	FOXP1	ORPHA:391372
HP:0002788	Recurrent upper respiratory tract infections	8481	OFD1	OMIM:300209
HP:0002788	Recurrent upper respiratory tract infections	5971	RELB	OMIM:617585
HP:0002788	Recurrent upper respiratory tract infections	79803	HPS6	OMIM:614075
HP:0002788	Recurrent upper respiratory tract infections	641	BLM	OMIM:210900
HP:0002788	Recurrent upper respiratory tract infections	5340	PLG	OMIM:217090
HP:0002788	Recurrent upper respiratory tract infections	51341	ZBTB7A	OMIM:619769
HP:0002788	Recurrent upper respiratory tract infections	2799	GNS	OMIM:252940
HP:0002788	Recurrent upper respiratory tract infections	8242	KDM5C	OMIM:300534
HP:0002788	Recurrent upper respiratory tract infections	23247	KATNIP	OMIM:616784
HP:0002788	Recurrent upper respiratory tract infections	2990	GUSB	OMIM:253220
HP:0002788	Recurrent upper respiratory tract infections	138050	HGSNAT	OMIM:252930
HP:0002788	Recurrent upper respiratory tract infections	3514	IGKC	ORPHA:183675
HP:0002788	Recurrent upper respiratory tract infections	3501	IGHG2	ORPHA:183675
HP:0002788	Recurrent upper respiratory tract infections	64421	DCLRE1C	OMIM:602450
HP:0002788	Recurrent upper respiratory tract infections	79158	GNPTAB	ORPHA:423461
HP:0002788	Recurrent upper respiratory tract infections	2542	SLC37A4	OMIM:232240
HP:0002788	Recurrent upper respiratory tract infections	55023	PHIP	ORPHA:589905
HP:0002788	Recurrent upper respiratory tract infections	8625	RFXANK	OMIM:620815
HP:0002788	Recurrent upper respiratory tract infections	2302	FOXJ1	OMIM:618699
HP:0002788	Recurrent upper respiratory tract infections	7388	UQCRH	OMIM:620137
HP:0002788	Recurrent upper respiratory tract infections	9138	ARHGEF1	OMIM:618459
HP:0002788	Recurrent upper respiratory tract infections	5696	PSMB8	OMIM:256040
HP:0002788	Recurrent upper respiratory tract infections	4669	NAGLU	OMIM:252920
HP:0002788	Recurrent upper respiratory tract infections	54808	DYM	ORPHA:239
HP:0002788	Recurrent upper respiratory tract infections	374407	DNAJB13	OMIM:617091
HP:0002788	Recurrent upper respiratory tract infections	139212	DNAAF6	OMIM:300991
HP:0002788	Recurrent upper respiratory tract infections	30011	SH3KBP1	OMIM:300310
HP:0002788	Recurrent upper respiratory tract infections	695	BTK	OMIM:300755
HP:0002788	Recurrent upper respiratory tract infections	930	CD19	OMIM:613493
HP:0002788	Recurrent upper respiratory tract infections	930	CD19	OMIM:240500
HP:0002788	Recurrent upper respiratory tract infections	152110	NEK10	OMIM:618781
HP:0002788	Recurrent upper respiratory tract infections	115650	TNFRSF13C	OMIM:613494
HP:0002788	Recurrent upper respiratory tract infections	115650	TNFRSF13C	OMIM:240500
HP:0002788	Recurrent upper respiratory tract infections	23308	ICOSLG	OMIM:620825
HP:0002788	Recurrent upper respiratory tract infections	27148	STK36	OMIM:619436
HP:0002788	Recurrent upper respiratory tract infections	5880	RAC2	OMIM:618986
HP:0002788	Recurrent upper respiratory tract infections	64446	DNAI2	OMIM:612444
HP:0002788	Recurrent upper respiratory tract infections	987	LRBA	OMIM:614700
HP:0002788	Recurrent upper respiratory tract infections	3426	CFI	OMIM:610984
HP:0002788	Recurrent upper respiratory tract infections	345895	RSPH4A	OMIM:612649
HP:0002788	Recurrent upper respiratory tract infections	54499	TMCO1	OMIM:213980
HP:0002788	Recurrent upper respiratory tract infections	79650	USB1	OMIM:604173
HP:0002788	Recurrent upper respiratory tract infections	5293	PIK3CD	OMIM:619281
HP:0002788	Recurrent upper respiratory tract infections	3507	IGHM	OMIM:601495
HP:0002788	Recurrent upper respiratory tract infections	54768	HYDIN	OMIM:608647
HP:0002788	Recurrent upper respiratory tract infections	89765	RSPH1	OMIM:615481
HP:0002788	Recurrent upper respiratory tract infections	161582	DNAAF4	OMIM:615482
HP:0002788	Recurrent upper respiratory tract infections	1289	COL5A1	OMIM:130000
HP:0002788	Recurrent upper respiratory tract infections	4256	MGP	ORPHA:85202
HP:0002788	Recurrent upper respiratory tract infections	51816	ADA2	OMIM:615688
HP:0002788	Recurrent upper respiratory tract infections	54919	DNAAF5	OMIM:614874
HP:0002788	Recurrent upper respiratory tract infections	54014	BRWD1	OMIM:620438
HP:0002788	Recurrent upper respiratory tract infections	4790	NFKB1	OMIM:616576
HP:0002788	Recurrent upper respiratory tract infections	51364	ZMYND10	OMIM:615444
HP:0002788	Recurrent upper respiratory tract infections	50615	IL21R	OMIM:615207
HP:0002788	Recurrent upper respiratory tract infections	29927	SEC61A1	OMIM:620674
HP:0002788	Recurrent upper respiratory tract infections	29927	SEC61A1	OMIM:620670
HP:0002788	Recurrent upper respiratory tract infections	1767	DNAH5	OMIM:608644
HP:0002788	Recurrent upper respiratory tract infections	85452	CFAP74	OMIM:620197
HP:0002788	Recurrent upper respiratory tract infections	8382	NME5	OMIM:620032
HP:0002788	Recurrent upper respiratory tract infections	29851	ICOS	OMIM:607594
HP:0002788	Recurrent upper respiratory tract infections	29851	ICOS	OMIM:240500
HP:0002788	Recurrent upper respiratory tract infections	3604	TNFRSF9	OMIM:620282
HP:0002788	Recurrent upper respiratory tract infections	84905	ZNF341	OMIM:618282
HP:0002788	Recurrent upper respiratory tract infections	54	ACP5	OMIM:607944
HP:0002788	Recurrent upper respiratory tract infections	23495	TNFRSF13B	OMIM:240500
HP:0002788	Recurrent upper respiratory tract infections	1380	CR2	OMIM:240500
HP:0002788	Recurrent upper respiratory tract infections	84061	MAGT1	OMIM:300853
HP:0002788	Recurrent upper respiratory tract infections	123872	DNAAF1	OMIM:613193
HP:0002788	Recurrent upper respiratory tract infections	1290	COL5A2	OMIM:130010
HP:0002788	Recurrent upper respiratory tract infections	55130	ODAD2	OMIM:615451
HP:0002788	Recurrent upper respiratory tract infections	10625	IVNS1ABP	OMIM:618969
HP:0002788	Recurrent upper respiratory tract infections	4194	MDM4	OMIM:618849
HP:0002788	Recurrent upper respiratory tract infections	3551	IKBKB	OMIM:618204
HP:0002788	Recurrent upper respiratory tract infections	23765	IL17RA	OMIM:613953
HP:0002788	Recurrent upper respiratory tract infections	246176	GAS2L2	OMIM:618449
HP:0002788	Recurrent upper respiratory tract infections	29110	TBK1	OMIM:620880
HP:0002788	Recurrent upper respiratory tract infections	6899	TBX1	OMIM:188400
HP:0002788	Recurrent upper respiratory tract infections	81704	DOCK8	OMIM:243700
HP:0002788	Recurrent upper respiratory tract infections	81704	DOCK8	ORPHA:217390
HP:0002788	Recurrent upper respiratory tract infections	345643	MCIDAS	OMIM:618695
HP:0002788	Recurrent upper respiratory tract infections	93233	ODAD1	OMIM:615067
HP:0002788	Recurrent upper respiratory tract infections	56683	CFAP298	OMIM:615500
HP:0002788	Recurrent upper respiratory tract infections	721	C4B	OMIM:614379
HP:0002788	Recurrent upper respiratory tract infections	359948	IRF2BP2	OMIM:617765
HP:0002788	Recurrent upper respiratory tract infections	4689	NCF4	OMIM:613960
HP:0002788	Recurrent upper respiratory tract infections	6688	SPI1	OMIM:619707
HP:0002788	Recurrent upper respiratory tract infections	85478	CCDC65	OMIM:615504
HP:0002788	Recurrent upper respiratory tract infections	6674	SPAG1	OMIM:615505
HP:0002788	Recurrent upper respiratory tract infections	51314	NME8	OMIM:610852
HP:0002788	Recurrent upper respiratory tract infections	2214	FCGR3A	OMIM:615707
HP:0002788	Recurrent upper respiratory tract infections	8517	IKBKG	ORPHA:98813
HP:0002788	Recurrent upper respiratory tract infections	4792	NFKBIA	ORPHA:98813
HP:0002788	Recurrent upper respiratory tract infections	165918	RNF168	ORPHA:420741
HP:0002788	Recurrent upper respiratory tract infections	23639	DNAAF11	OMIM:614935
HP:0002788	Recurrent upper respiratory tract infections	55172	DNAAF2	OMIM:612518
HP:0002788	Recurrent upper respiratory tract infections	64135	IFIH1	OMIM:619773
HP:0002788	Recurrent upper respiratory tract infections	26191	PTPN22	ORPHA:397
HP:0002788	Recurrent upper respiratory tract infections	3106	HLA-B	ORPHA:397
HP:0002788	Recurrent upper respiratory tract infections	3123	HLA-DRB1	ORPHA:397
HP:0002788	Recurrent upper respiratory tract infections	8974	P4HA2	ORPHA:397
HP:0002788	Recurrent upper respiratory tract infections	55315	SLC29A3	ORPHA:168569
HP:0002788	Recurrent upper respiratory tract infections	7132	TNFRSF1A	ORPHA:32960
HP:0002788	Recurrent upper respiratory tract infections	4068	SH2D1A	OMIM:308240
HP:0002788	Recurrent upper respiratory tract infections	331	XIAP	OMIM:308240
HP:0002788	Recurrent upper respiratory tract infections	2737	GLI3	ORPHA:672
HP:0002788	Recurrent upper respiratory tract infections	5896	RAG1	ORPHA:331206
HP:0002788	Recurrent upper respiratory tract infections	5897	RAG2	ORPHA:331206
HP:0002788	Recurrent upper respiratory tract infections	4247	MGAT2	ORPHA:79329
HP:0002788	Recurrent upper respiratory tract infections	8239	USP9X	ORPHA:480880
HP:0002788	Recurrent upper respiratory tract infections	57379	AICDA	OMIM:605258
HP:0002788	Recurrent upper respiratory tract infections	7374	UNG	OMIM:608106
HP:0002788	Recurrent upper respiratory tract infections	6340	SCNN1G	ORPHA:171876
HP:0002788	Recurrent upper respiratory tract infections	6337	SCNN1A	ORPHA:171876
HP:0002788	Recurrent upper respiratory tract infections	6338	SCNN1B	ORPHA:171876
HP:0002788	Recurrent upper respiratory tract infections	29969	MDFIC	OMIM:620014
HP:0002788	Recurrent upper respiratory tract infections	7535	ZAP70	ORPHA:911
HP:0002788	Recurrent upper respiratory tract infections	5728	PTEN	ORPHA:397596
HP:0002837	Recurrent bronchitis	27019	DNAI1	OMIM:244400
HP:0002837	Recurrent bronchitis	374407	DNAJB13	OMIM:617091
HP:0002837	Recurrent bronchitis	83844	USP26	OMIM:301101
HP:0002837	Recurrent bronchitis	6595	SMARCA2	OMIM:619293
HP:0002837	Recurrent bronchitis	4791	NFKB2	ORPHA:293978
HP:0002837	Recurrent bronchitis	4791	NFKB2	ORPHA:1572
HP:0002837	Recurrent bronchitis	139818	DOCK11	OMIM:301109
HP:0002837	Recurrent bronchitis	115650	TNFRSF13C	OMIM:240500
HP:0002837	Recurrent bronchitis	115650	TNFRSF13C	ORPHA:1572
HP:0002837	Recurrent bronchitis	29851	ICOS	OMIM:240500
HP:0002837	Recurrent bronchitis	29851	ICOS	ORPHA:1572
HP:0002837	Recurrent bronchitis	29851	ICOS	OMIM:607594
HP:0002837	Recurrent bronchitis	930	CD19	OMIM:240500
HP:0002837	Recurrent bronchitis	930	CD19	ORPHA:1572
HP:0002837	Recurrent bronchitis	23495	TNFRSF13B	OMIM:240500
HP:0002837	Recurrent bronchitis	23495	TNFRSF13B	ORPHA:1572
HP:0002837	Recurrent bronchitis	1380	CR2	OMIM:240500
HP:0002837	Recurrent bronchitis	1380	CR2	ORPHA:1572
HP:0002837	Recurrent bronchitis	84061	MAGT1	OMIM:300853
HP:0002837	Recurrent bronchitis	4256	MGP	OMIM:245150
HP:0002837	Recurrent bronchitis	6103	RPGR	OMIM:300455
HP:0002837	Recurrent bronchitis	123872	DNAAF1	OMIM:613193
HP:0002837	Recurrent bronchitis	4683	NBN	OMIM:251260
HP:0002837	Recurrent bronchitis	23308	ICOSLG	OMIM:620825
HP:0002837	Recurrent bronchitis	2622	GAS8	OMIM:616726
HP:0002837	Recurrent bronchitis	23765	IL17RA	OMIM:613953
HP:0002837	Recurrent bronchitis	3588	IL10RB	OMIM:612567
HP:0002837	Recurrent bronchitis	6890	TAP1	OMIM:604571
HP:0002837	Recurrent bronchitis	3561	IL2RG	OMIM:312863
HP:0002837	Recurrent bronchitis	974	CD79B	OMIM:612692
HP:0002837	Recurrent bronchitis	472	ATM	OMIM:208900
HP:0002837	Recurrent bronchitis	973	CD79A	OMIM:613501
HP:0002837	Recurrent bronchitis	4790	NFKB1	ORPHA:1572
HP:0002837	Recurrent bronchitis	8742	TNFSF12	ORPHA:1572
HP:0002837	Recurrent bronchitis	931	MS4A1	ORPHA:1572
HP:0002837	Recurrent bronchitis	975	CD81	ORPHA:1572
HP:0002837	Recurrent bronchitis	359948	IRF2BP2	ORPHA:1572
HP:0002837	Recurrent bronchitis	6901	TAFAZZIN	OMIM:302060
HP:0002837	Recurrent bronchitis	26834	RNU4-2	OMIM:620851
HP:0002837	Recurrent bronchitis	91039	DPP9	OMIM:620331
HP:0002837	Recurrent bronchitis	79158	GNPTAB	OMIM:252500
HP:0002837	Recurrent bronchitis	29927	SEC61A1	OMIM:620670
HP:0002837	Recurrent bronchitis	64864	RFX7	OMIM:620330
HP:0002837	Recurrent bronchitis	23149	FCHO1	OMIM:619164
HP:0002837	Recurrent bronchitis	1956	EGFR	OMIM:616069
HP:0002837	Recurrent bronchitis	6337	SCNN1A	OMIM:613021
HP:0002786	Tracheobronchomalacia	1836	SLC26A2	ORPHA:56304
HP:0002786	Tracheobronchomalacia	222663	SCUBE3	OMIM:619184
HP:0002786	Tracheobronchomalacia	6662	SOX9	ORPHA:140
HP:0002786	Tracheobronchomalacia	6662	SOX9	OMIM:114290
HP:0002786	Tracheobronchomalacia	3423	IDS	OMIM:309900
HP:0002786	Tracheobronchomalacia	5879	RAC1	OMIM:617751
HP:0002786	Tracheobronchomalacia	5879	RAC1	ORPHA:500159
HP:0002786	Tracheobronchomalacia	25885	POLR1A	OMIM:616462
HP:0002786	Tracheobronchomalacia	79813	EHMT1	OMIM:610253
HP:0002786	Tracheobronchomalacia	51053	GMNN	OMIM:616835
HP:0002787	Tracheal calcification	3930	LBR	OMIM:215140
HP:0002787	Tracheal calcification	10682	EBP	OMIM:302960
HP:0002787	Tracheal calcification	4921	DDR2	OMIM:271665
HP:0002787	Tracheal calcification	4256	MGP	OMIM:245150
HP:0002787	Tracheal calcification	415	ARSL	ORPHA:79345
HP:0002789	Tachypnea	435	ASL	ORPHA:23
HP:0002789	Tachypnea	10128	LRPPRC	OMIM:220111
HP:0002789	Tachypnea	9997	SCO2	OMIM:604377
HP:0002789	Tachypnea	3155	HMGCL	ORPHA:20
HP:0002789	Tachypnea	6899	TBX1	ORPHA:3384
HP:0002789	Tachypnea	137814	NKX2-6	ORPHA:3384
HP:0002789	Tachypnea	23129	PLXND1	ORPHA:3384
HP:0002789	Tachypnea	37	ACADVL	OMIM:201475
HP:0002789	Tachypnea	37	ACADVL	ORPHA:26793
HP:0002789	Tachypnea	763	CA5A	OMIM:615751
HP:0002789	Tachypnea	4519	MT-CYB	ORPHA:137675
HP:0002789	Tachypnea	5019	OXCT1	OMIM:245050
HP:0002789	Tachypnea	90624	LYRM7	OMIM:615838
HP:0002789	Tachypnea	10056	FARSB	OMIM:613658
HP:0002789	Tachypnea	6261	RYR1	ORPHA:466650
HP:0002789	Tachypnea	6261	RYR1	ORPHA:423
HP:0002789	Tachypnea	415	ARSL	ORPHA:79345
HP:0002789	Tachypnea	779	CACNA1S	ORPHA:423
HP:0002789	Tachypnea	162417	NAGS	OMIM:237310
HP:0002789	Tachypnea	79848	CSPP1	ORPHA:397715
HP:0002789	Tachypnea	9786	KIAA0586	ORPHA:397715
HP:0002789	Tachypnea	9786	KIAA0586	OMIM:616490
HP:0002789	Tachypnea	374354	NHLRC2	OMIM:618278
HP:0002789	Tachypnea	1314	COPA	OMIM:616414
HP:0002789	Tachypnea	23322	RPGRIP1L	OMIM:611560
HP:0002789	Tachypnea	80210	ARMC9	OMIM:617622
HP:0002789	Tachypnea	3141	HLCS	OMIM:253270
HP:0002789	Tachypnea	3141	HLCS	ORPHA:79242
HP:0002789	Tachypnea	3508	IGHMBP2	OMIM:604320
HP:0002789	Tachypnea	6440	SFTPC	OMIM:610913
HP:0002789	Tachypnea	6440	SFTPC	ORPHA:685082
HP:0002789	Tachypnea	10166	SLC25A15	ORPHA:415
HP:0002789	Tachypnea	6439	SFTPB	OMIM:265120
HP:0002789	Tachypnea	6439	SFTPB	ORPHA:685082
HP:0002789	Tachypnea	6439	SFTPB	ORPHA:217563
HP:0002789	Tachypnea	38	ACAT1	ORPHA:134
HP:0002789	Tachypnea	21	ABCA3	ORPHA:685082
HP:0002789	Tachypnea	21	ABCA3	ORPHA:217563
HP:0002789	Tachypnea	21	ABCA3	OMIM:610921
HP:0002789	Tachypnea	1438	CSF2RA	OMIM:300770
HP:0002789	Tachypnea	1438	CSF2RA	ORPHA:264675
HP:0002789	Tachypnea	1439	CSF2RB	ORPHA:264675
HP:0002789	Tachypnea	388753	COA6	OMIM:616501
HP:0002789	Tachypnea	686	BTD	OMIM:253260
HP:0002789	Tachypnea	340061	STING1	OMIM:615934
HP:0002789	Tachypnea	439	GET3	OMIM:620203
HP:0002789	Tachypnea	59	ACTA2	OMIM:613834
HP:0002789	Tachypnea	4750	NEK1	ORPHA:2751
HP:0002789	Tachypnea	79583	TMEM231	ORPHA:2318
HP:0002789	Tachypnea	51524	TMEM138	ORPHA:2318
HP:0002789	Tachypnea	23090	ZNF423	ORPHA:2318
HP:0002789	Tachypnea	80184	CEP290	ORPHA:2318
HP:0002789	Tachypnea	51259	TMEM216	ORPHA:2318
HP:0002789	Tachypnea	57545	CC2D2A	ORPHA:2318
HP:0002789	Tachypnea	65062	TMEM237	ORPHA:2318
HP:0002789	Tachypnea	506	ATP5F1B	OMIM:620085
HP:0002789	Tachypnea	5095	PCCA	OMIM:606054
HP:0002789	Tachypnea	5096	PCCB	OMIM:606054
HP:0002789	Tachypnea	10568	SLC34A2	ORPHA:60025
HP:0002789	Tachypnea	51025	PAM16	OMIM:613320
HP:0002789	Tachypnea	388962	BOLA3	OMIM:614299
HP:0002789	Tachypnea	5826	ABCD4	OMIM:614857
HP:0002789	Tachypnea	846	CASR	OMIM:239200
HP:0002789	Tachypnea	7080	NKX2-1	OMIM:610978
HP:0002789	Tachypnea	6005	RHAG	ORPHA:71275
HP:0002789	Tachypnea	6006	RHCE	ORPHA:71275
HP:0002789	Tachypnea	6007	RHD	ORPHA:71275
HP:0002789	Tachypnea	7092	TLL1	ORPHA:99106
HP:0002789	Tachypnea	9851	KIAA0753	ORPHA:475
HP:0002789	Tachypnea	9851	KIAA0753	ORPHA:2754
HP:0002789	Tachypnea	5147	PDE6D	ORPHA:475
HP:0002789	Tachypnea	5147	PDE6D	ORPHA:2754
HP:0002789	Tachypnea	79600	TCTN1	ORPHA:475
HP:0002789	Tachypnea	8481	OFD1	ORPHA:475
HP:0002789	Tachypnea	8481	OFD1	ORPHA:2754
HP:0002789	Tachypnea	51684	SUFU	ORPHA:475
HP:0002789	Tachypnea	54806	AHI1	ORPHA:475
HP:0002789	Tachypnea	54806	AHI1	OMIM:608629
HP:0002789	Tachypnea	153241	CEP120	ORPHA:475
HP:0002789	Tachypnea	65250	CPLANE1	ORPHA:475
HP:0002789	Tachypnea	65250	CPLANE1	ORPHA:2754
HP:0002789	Tachypnea	91147	TMEM67	ORPHA:475
HP:0002789	Tachypnea	200894	ARL13B	ORPHA:475
HP:0002789	Tachypnea	9731	CEP104	ORPHA:475
HP:0002789	Tachypnea	219844	HYLS1	ORPHA:475
HP:0002789	Tachypnea	23247	KATNIP	ORPHA:475
HP:0002789	Tachypnea	219854	TMEM218	ORPHA:475
HP:0002789	Tachypnea	54903	MKS1	ORPHA:475
HP:0002789	Tachypnea	95681	CEP41	ORPHA:475
HP:0002789	Tachypnea	56623	INPP5E	ORPHA:475
HP:0002789	Tachypnea	56623	INPP5E	OMIM:213300
HP:0002789	Tachypnea	26123	TCTN3	ORPHA:475
HP:0002789	Tachypnea	26123	TCTN3	ORPHA:2754
HP:0002789	Tachypnea	79867	TCTN2	ORPHA:475
HP:0002789	Tachypnea	80776	B9D2	ORPHA:475
HP:0002789	Tachypnea	10464	PIBF1	ORPHA:475
HP:0002789	Tachypnea	23116	TOGARAM1	ORPHA:475
HP:0002789	Tachypnea	25776	CBY1	ORPHA:475
HP:0002789	Tachypnea	27077	B9D1	ORPHA:475
HP:0002789	Tachypnea	403	ARL3	ORPHA:475
HP:0002789	Tachypnea	80173	IFT74	ORPHA:475
HP:0002789	Tachypnea	6792	CDKL5	ORPHA:3095
HP:0002789	Tachypnea	22854	NTNG1	ORPHA:3095
HP:0002789	Tachypnea	9568	GABBR2	ORPHA:3095
HP:0002789	Tachypnea	4204	MECP2	ORPHA:3095
HP:0002789	Tachypnea	8243	SMC1A	ORPHA:3095
HP:0002789	Tachypnea	7385	UQCRC2	OMIM:615160
HP:0002789	Tachypnea	2203	FBP1	ORPHA:348
HP:0002789	Tachypnea	10210	TOPORS	ORPHA:2754
HP:0002789	Tachypnea	317662	FAM149B1	ORPHA:2754
HP:0002789	Tachypnea	374654	KIF7	ORPHA:2754
HP:0002790	Neonatal breathing dysregulation	54806	AHI1	OMIM:608629
HP:0002790	Neonatal breathing dysregulation	23322	RPGRIP1L	OMIM:611560
HP:0002790	Neonatal breathing dysregulation	80184	CEP290	OMIM:610188
HP:0002790	Neonatal breathing dysregulation	51259	TMEM216	OMIM:608091
HP:0002790	Neonatal breathing dysregulation	56623	INPP5E	OMIM:213300
HP:0002791	Hypoventilation	8929	PHOX2B	OMIM:209880
HP:0002791	Hypoventilation	1756	DMD	OMIM:310200
HP:0002791	Hypoventilation	5428	POLG	OMIM:203700
HP:0002791	Hypoventilation	7841	MOGS	OMIM:606056
HP:0002791	Hypoventilation	7841	MOGS	ORPHA:79330
HP:0002791	Hypoventilation	100033413	SNORD116-1	OMIM:176270
HP:0002791	Hypoventilation	8924	HERC2	OMIM:176270
HP:0002791	Hypoventilation	23742	NPAP1	OMIM:176270
HP:0002791	Hypoventilation	338433	SNORD115-1	OMIM:176270
HP:0002791	Hypoventilation	54551	MAGEL2	OMIM:176270
HP:0002791	Hypoventilation	7681	MKRN3	OMIM:176270
HP:0002791	Hypoventilation	145624	PWAR1	OMIM:176270
HP:0002791	Hypoventilation	3653	IPW	OMIM:176270
HP:0002791	Hypoventilation	791114	PWRN1	OMIM:176270
HP:0002791	Hypoventilation	283446	MYO1H	OMIM:619482
HP:0002791	Hypoventilation	60482	SLC5A7	OMIM:617143
HP:0002791	Hypoventilation	54681	P4HTM	OMIM:618493
HP:0002791	Hypoventilation	4726	NDUFS6	OMIM:618232
HP:0002791	Hypoventilation	79628	SH3TC2	ORPHA:99949
HP:0002791	Hypoventilation	8292	COLQ	ORPHA:98915
HP:0002791	Hypoventilation	3913	LAMB2	ORPHA:98915
HP:0002791	Hypoventilation	1974	EIF4A2	OMIM:620455
HP:0002791	Hypoventilation	29072	SETD2	OMIM:620155
HP:0002791	Hypoventilation	3908	LAMA2	ORPHA:258
HP:0002791	Hypoventilation	199221	DZIP1L	ORPHA:731
HP:0002791	Hypoventilation	5314	PKHD1	ORPHA:731
HP:0002791	Hypoventilation	1639	DCTN1	OMIM:168605
HP:0002791	Hypoventilation	1303	COL12A1	ORPHA:610
HP:0002791	Hypoventilation	1291	COL6A1	ORPHA:610
HP:0002791	Hypoventilation	1292	COL6A2	ORPHA:610
HP:0002791	Hypoventilation	1293	COL6A3	ORPHA:610
HP:0002791	Hypoventilation	1353	COX11	OMIM:620275
HP:0002791	Hypoventilation	5813	PURA	ORPHA:314655
HP:0002791	Hypoventilation	3190	HNRNPK	ORPHA:453504
HP:0002791	Hypoventilation	3190	HNRNPK	ORPHA:352665
HP:0002791	Hypoventilation	57190	SELENON	OMIM:602771
HP:0002791	Hypoventilation	57190	SELENON	ORPHA:324604
HP:0002791	Hypoventilation	4625	MYH7	ORPHA:324604
HP:0002791	Hypoventilation	7273	TTN	ORPHA:324604
HP:0002791	Hypoventilation	7273	TTN	OMIM:603689
HP:0002791	Hypoventilation	11080	DNAJB4	OMIM:620326
HP:0002791	Hypoventilation	58	ACTA1	ORPHA:171436
HP:0002791	Hypoventilation	7169	TPM2	ORPHA:171436
HP:0002791	Hypoventilation	4703	NEB	ORPHA:171436
HP:0002791	Hypoventilation	10324	KLHL41	ORPHA:171436
HP:0002791	Hypoventilation	56203	LMOD3	ORPHA:171436
HP:0002791	Hypoventilation	1073	CFL2	ORPHA:171436
HP:0002791	Hypoventilation	113278	SLC52A3	OMIM:211530
HP:0002791	Hypoventilation	79147	FKRP	OMIM:607155
HP:0002791	Hypoventilation	4204	MECP2	OMIM:300673
HP:0002791	Hypoventilation	91942	NDUFAF2	OMIM:618233
HP:0002791	Hypoventilation	3198	HOXA1	OMIM:601536
HP:0002791	Hypoventilation	10660	LBX1	OMIM:619483
HP:0002791	Hypoventilation	84665	MYPN	ORPHA:171881
HP:0002791	Hypoventilation	7170	TPM3	ORPHA:171881
HP:0002791	Hypoventilation	5979	RET	ORPHA:99803
HP:0002791	Hypoventilation	429	ASCL1	ORPHA:99803
HP:0002791	Hypoventilation	54675	CRLS1	OMIM:620167
HP:0002792	Reduced vital capacity	9499	MYOT	ORPHA:266
HP:0002792	Reduced vital capacity	57190	SELENON	OMIM:602771
HP:0002792	Reduced vital capacity	7273	TTN	OMIM:603689
HP:0002792	Reduced vital capacity	7273	TTN	ORPHA:178464
HP:0002792	Reduced vital capacity	88	ACTN2	OMIM:618654
HP:0002792	Reduced vital capacity	51776	MAP3K20	OMIM:617760
HP:0002792	Reduced vital capacity	7415	VCP	ORPHA:329478
HP:0002792	Reduced vital capacity	7169	TPM2	OMIM:609285
HP:0002792	Reduced vital capacity	7169	TPM2	ORPHA:171439
HP:0002792	Reduced vital capacity	84665	MYPN	OMIM:617336
HP:0002792	Reduced vital capacity	84665	MYPN	ORPHA:171439
HP:0002792	Reduced vital capacity	79912	PYROXD1	OMIM:617258
HP:0002792	Reduced vital capacity	58	ACTA1	ORPHA:171439
HP:0002792	Reduced vital capacity	390594	KBTBD13	ORPHA:171439
HP:0002792	Reduced vital capacity	4703	NEB	ORPHA:171439
HP:0002792	Reduced vital capacity	10324	KLHL41	ORPHA:171439
HP:0002792	Reduced vital capacity	7170	TPM3	ORPHA:171439
HP:0002792	Reduced vital capacity	81846	SBF2	ORPHA:99956
HP:0002792	Reduced vital capacity	4625	MYH7	OMIM:608358
HP:0002792	Reduced vital capacity	6329	SCN4A	ORPHA:98913
HP:0002792	Reduced vital capacity	1134	CHRNA1	ORPHA:98913
HP:0002792	Reduced vital capacity	4038	LRP4	ORPHA:98913
HP:0002792	Reduced vital capacity	1305	COL13A1	ORPHA:98913
HP:0002792	Reduced vital capacity	1140	CHRNB1	ORPHA:98913
HP:0002792	Reduced vital capacity	1144	CHRND	ORPHA:98913
HP:0002792	Reduced vital capacity	1145	CHRNE	ORPHA:98913
HP:0002792	Reduced vital capacity	4593	MUSK	ORPHA:98913
HP:0002792	Reduced vital capacity	5913	RAPSN	ORPHA:98913
HP:0002792	Reduced vital capacity	375790	AGRN	ORPHA:98913
HP:0002792	Reduced vital capacity	221264	AK9	ORPHA:98913
HP:0002792	Reduced vital capacity	285489	DOK7	ORPHA:98913
HP:0002792	Reduced vital capacity	285489	DOK7	OMIM:254300
HP:0002792	Reduced vital capacity	729920	CRPPA	ORPHA:352479
HP:0002793	Abnormal pattern of respiration	3763	KCNJ6	ORPHA:435628
HP:0002793	Abnormal pattern of respiration	4625	MYH7	ORPHA:1880
HP:0002793	Abnormal pattern of respiration	51343	FZR1	OMIM:620145
HP:0002793	Abnormal pattern of respiration	3909	LAMA3	ORPHA:79404
HP:0002793	Abnormal pattern of respiration	3918	LAMC2	ORPHA:79404
HP:0002793	Abnormal pattern of respiration	3914	LAMB3	ORPHA:79404
HP:0002793	Abnormal pattern of respiration	4535	MT-ND1	ORPHA:255210
HP:0002793	Abnormal pattern of respiration	4536	MT-ND2	ORPHA:255210
HP:0002793	Abnormal pattern of respiration	4537	MT-ND3	ORPHA:255210
HP:0002793	Abnormal pattern of respiration	4538	MT-ND4	ORPHA:255210
HP:0002793	Abnormal pattern of respiration	4567	MT-TL1	ORPHA:255210
HP:0002793	Abnormal pattern of respiration	4578	MT-TW	ORPHA:255210
HP:0002793	Abnormal pattern of respiration	4577	MT-TV	ORPHA:255210
HP:0002793	Abnormal pattern of respiration	4508	MT-ATP6	ORPHA:255210
HP:0002793	Abnormal pattern of respiration	4540	MT-ND5	ORPHA:255210
HP:0002793	Abnormal pattern of respiration	4541	MT-ND6	ORPHA:255210
HP:0002793	Abnormal pattern of respiration	4566	MT-TK	ORPHA:255210
HP:0002793	Abnormal pattern of respiration	4566	MT-TK	ORPHA:1349
HP:0002793	Abnormal pattern of respiration	727897	MUC5B	OMIM:178500
HP:0002793	Abnormal pattern of respiration	6440	SFTPC	OMIM:178500
HP:0002793	Abnormal pattern of respiration	6440	SFTPC	OMIM:610913
HP:0002793	Abnormal pattern of respiration	729238	SFTPA2	OMIM:178500
HP:0002793	Abnormal pattern of respiration	7015	TERT	OMIM:178500
HP:0002793	Abnormal pattern of respiration	7015	TERT	OMIM:614742
HP:0002793	Abnormal pattern of respiration	7015	TERT	OMIM:127550
HP:0002793	Abnormal pattern of respiration	1278	COL1A2	ORPHA:230851
HP:0002793	Abnormal pattern of respiration	4141	MARS1	OMIM:615486
HP:0002793	Abnormal pattern of respiration	70	ACTC1	OMIM:612098
HP:0002793	Abnormal pattern of respiration	70	ACTC1	ORPHA:99103
HP:0002793	Abnormal pattern of respiration	1824	DSC2	OMIM:610476
HP:0002793	Abnormal pattern of respiration	6439	SFTPB	OMIM:265120
HP:0002793	Abnormal pattern of respiration	2022	ENG	OMIM:187300
HP:0002793	Abnormal pattern of respiration	653509	SFTPA1	OMIM:619611
HP:0002793	Abnormal pattern of respiration	57158	JPH2	OMIM:613873
HP:0002793	Abnormal pattern of respiration	54790	TET2	ORPHA:98826
HP:0002793	Abnormal pattern of respiration	21	ABCA3	OMIM:610921
HP:0002793	Abnormal pattern of respiration	659	BMPR2	OMIM:178600
HP:0002793	Abnormal pattern of respiration	89910	UBE3B	ORPHA:2707
HP:0002793	Abnormal pattern of respiration	113278	SLC52A3	OMIM:211530
HP:0002793	Abnormal pattern of respiration	10370	CITED2	ORPHA:99105
HP:0002793	Abnormal pattern of respiration	10370	CITED2	ORPHA:99103
HP:0002793	Abnormal pattern of respiration	7092	TLL1	ORPHA:99106
HP:0002793	Abnormal pattern of respiration	7092	TLL1	ORPHA:99103
HP:0002793	Abnormal pattern of respiration	112476	PRRT2	ORPHA:98810
HP:0002793	Abnormal pattern of respiration	25953	PNKD	ORPHA:98810
HP:0002793	Abnormal pattern of respiration	1621	DBH	ORPHA:230
HP:0002793	Abnormal pattern of respiration	4607	MYBPC3	OMIM:115197
HP:0002793	Abnormal pattern of respiration	3043	HBB	ORPHA:231214
HP:0002793	Abnormal pattern of respiration	3043	HBB	ORPHA:231226
HP:0002793	Abnormal pattern of respiration	1763	DNA2	OMIM:615156
HP:0002793	Abnormal pattern of respiration	6340	SCNN1G	ORPHA:60033
HP:0002793	Abnormal pattern of respiration	1080	CFTR	ORPHA:60033
HP:0002793	Abnormal pattern of respiration	6337	SCNN1A	ORPHA:60033
HP:0002793	Abnormal pattern of respiration	6338	SCNN1B	ORPHA:60033
HP:0002793	Abnormal pattern of respiration	51604	PIGT	OMIM:615399
HP:0002793	Abnormal pattern of respiration	7139	TNNT2	OMIM:115195
HP:0002793	Abnormal pattern of respiration	7139	TNNT2	ORPHA:75249
HP:0002793	Abnormal pattern of respiration	7454	WAS	ORPHA:906
HP:0002793	Abnormal pattern of respiration	7456	WIPF1	ORPHA:906
HP:0002793	Abnormal pattern of respiration	6329	SCN4A	ORPHA:99735
HP:0002793	Abnormal pattern of respiration	6329	SCN4A	OMIM:613345
HP:0002793	Abnormal pattern of respiration	81031	SLC2A10	ORPHA:3342
HP:0002793	Abnormal pattern of respiration	2203	FBP1	ORPHA:348
HP:0002793	Abnormal pattern of respiration	2203	FBP1	OMIM:229700
HP:0002793	Abnormal pattern of respiration	23137	SMC5	OMIM:620185
HP:0002793	Abnormal pattern of respiration	92667	MGME1	ORPHA:352447
HP:0002793	Abnormal pattern of respiration	92667	MGME1	OMIM:615084
HP:0002793	Abnormal pattern of respiration	10342	TFG	ORPHA:90117
HP:0002793	Abnormal pattern of respiration	11231	SEC63	ORPHA:2924
HP:0002793	Abnormal pattern of respiration	5589	PRKCSH	ORPHA:2924
HP:0002793	Abnormal pattern of respiration	5589	PRKCSH	OMIM:174050
HP:0002793	Abnormal pattern of respiration	4041	LRP5	ORPHA:2924
HP:0002793	Abnormal pattern of respiration	3815	KIT	ORPHA:79455
HP:0002793	Abnormal pattern of respiration	56975	FAM20C	ORPHA:1832
HP:0002793	Abnormal pattern of respiration	8314	BAP1	ORPHA:50251
HP:0002793	Abnormal pattern of respiration	3115	HLA-DPB1	ORPHA:133
HP:0002793	Abnormal pattern of respiration	25978	CHMP2B	ORPHA:803
HP:0002793	Abnormal pattern of respiration	3178	HNRNPA1	ORPHA:803
HP:0002793	Abnormal pattern of respiration	8148	TAF15	ORPHA:803
HP:0002793	Abnormal pattern of respiration	5445	PON2	ORPHA:803
HP:0002793	Abnormal pattern of respiration	9217	VAPB	ORPHA:803
HP:0002793	Abnormal pattern of respiration	8878	SQSTM1	ORPHA:803
HP:0002793	Abnormal pattern of respiration	5630	PRPH	ORPHA:803
HP:0002793	Abnormal pattern of respiration	29110	TBK1	ORPHA:803
HP:0002793	Abnormal pattern of respiration	55830	GLT8D1	ORPHA:803
HP:0002793	Abnormal pattern of respiration	755	CFAP410	ORPHA:803
HP:0002793	Abnormal pattern of respiration	10891	PPARGC1A	ORPHA:803
HP:0002793	Abnormal pattern of respiration	6647	SOD1	ORPHA:803
HP:0002793	Abnormal pattern of respiration	10133	OPTN	ORPHA:803
HP:0002793	Abnormal pattern of respiration	1639	DCTN1	ORPHA:803
HP:0002793	Abnormal pattern of respiration	9896	FIG4	ORPHA:803
HP:0002793	Abnormal pattern of respiration	5444	PON1	ORPHA:803
HP:0002793	Abnormal pattern of respiration	5446	PON3	ORPHA:803
HP:0002793	Abnormal pattern of respiration	4744	NEFH	ORPHA:803
HP:0002793	Abnormal pattern of respiration	5216	PFN1	ORPHA:803
HP:0002793	Abnormal pattern of respiration	9782	MATR3	ORPHA:803
HP:0002793	Abnormal pattern of respiration	54209	TREM2	ORPHA:803
HP:0002793	Abnormal pattern of respiration	7415	VCP	ORPHA:803
HP:0002793	Abnormal pattern of respiration	7415	VCP	ORPHA:435387
HP:0002793	Abnormal pattern of respiration	283	ANG	ORPHA:803
HP:0002793	Abnormal pattern of respiration	23435	TARDBP	ORPHA:803
HP:0002793	Abnormal pattern of respiration	29978	UBQLN2	ORPHA:803
HP:0002793	Abnormal pattern of respiration	2733	GLE1	ORPHA:803
HP:0002793	Abnormal pattern of respiration	2521	FUS	ORPHA:803
HP:0002793	Abnormal pattern of respiration	4750	NEK1	ORPHA:803
HP:0002793	Abnormal pattern of respiration	6311	ATXN2	ORPHA:803
HP:0002793	Abnormal pattern of respiration	1610	DAO	ORPHA:803
HP:0002793	Abnormal pattern of respiration	2066	ERBB4	ORPHA:803
HP:0002793	Abnormal pattern of respiration	311	ANXA11	ORPHA:803
HP:0002793	Abnormal pattern of respiration	23025	UNC13A	ORPHA:803
HP:0002793	Abnormal pattern of respiration	899	CCNF	ORPHA:803
HP:0002793	Abnormal pattern of respiration	400916	CHCHD10	ORPHA:803
HP:0002793	Abnormal pattern of respiration	64127	NOD2	ORPHA:90340
HP:0002793	Abnormal pattern of respiration	2778	GNAS	ORPHA:79443
HP:0002793	Abnormal pattern of respiration	2778	GNAS	ORPHA:79444
HP:0002793	Abnormal pattern of respiration	2778	GNAS	ORPHA:94089
HP:0002793	Abnormal pattern of respiration	23479	ISCU	OMIM:255125
HP:0002793	Abnormal pattern of respiration	6576	SLC25A1	OMIM:615182
HP:0002793	Abnormal pattern of respiration	10568	SLC34A2	ORPHA:60025
HP:0002793	Abnormal pattern of respiration	567	B2M	OMIM:620659
HP:0002793	Abnormal pattern of respiration	826	CAPNS1	OMIM:620777
HP:0002793	Abnormal pattern of respiration	335	APOA1	OMIM:620657
HP:0002793	Abnormal pattern of respiration	4878	NPPA	OMIM:615745
HP:0002793	Abnormal pattern of respiration	4878	NPPA	ORPHA:334
HP:0002793	Abnormal pattern of respiration	4878	NPPA	ORPHA:1344
HP:0002793	Abnormal pattern of respiration	1288	COL4A6	ORPHA:1018
HP:0002793	Abnormal pattern of respiration	1287	COL4A5	ORPHA:1018
HP:0002793	Abnormal pattern of respiration	4054	LTBP3	OMIM:617809
HP:0002793	Abnormal pattern of respiration	94	ACVRL1	OMIM:600376
HP:0002793	Abnormal pattern of respiration	6775	STAT4	ORPHA:93552
HP:0002793	Abnormal pattern of respiration	6696	SPP1	ORPHA:93552
HP:0002793	Abnormal pattern of respiration	6303	SAT1	ORPHA:93552
HP:0002793	Abnormal pattern of respiration	3654	IRAK1	ORPHA:93552
HP:0002793	Abnormal pattern of respiration	2057	EPOR	ORPHA:90042
HP:0002793	Abnormal pattern of respiration	1776	DNASE1L3	ORPHA:36412
HP:0002793	Abnormal pattern of respiration	8675	STX16	ORPHA:94089
HP:0002793	Abnormal pattern of respiration	10102	TSFM	OMIM:610505
HP:0002793	Abnormal pattern of respiration	170302	ARX	OMIM:308350
HP:0002793	Abnormal pattern of respiration	10049	DNAJB6	OMIM:603511
HP:0002793	Abnormal pattern of respiration	57104	PNPLA2	ORPHA:565612
HP:0002793	Abnormal pattern of respiration	7273	TTN	ORPHA:178464
HP:0002793	Abnormal pattern of respiration	7273	TTN	ORPHA:334
HP:0002793	Abnormal pattern of respiration	440275	EIF2AK4	OMIM:234810
HP:0002793	Abnormal pattern of respiration	440275	EIF2AK4	ORPHA:199241
HP:0002793	Abnormal pattern of respiration	7248	TSC1	ORPHA:538
HP:0002793	Abnormal pattern of respiration	7249	TSC2	ORPHA:538
HP:0002793	Abnormal pattern of respiration	26277	TINF2	OMIM:127550
HP:0002793	Abnormal pattern of respiration	7012	TERC	OMIM:127550
HP:0002793	Abnormal pattern of respiration	710	SERPING1	ORPHA:100050
HP:0002793	Abnormal pattern of respiration	5978	REST	ORPHA:654
HP:0002793	Abnormal pattern of respiration	129563	DIS3L2	ORPHA:654
HP:0002793	Abnormal pattern of respiration	675	BRCA2	ORPHA:654
HP:0002793	Abnormal pattern of respiration	9319	TRIP13	ORPHA:654
HP:0002793	Abnormal pattern of respiration	7490	WT1	ORPHA:654
HP:0002793	Abnormal pattern of respiration	10155	TRIM28	ORPHA:654
HP:0002793	Abnormal pattern of respiration	11281	POU6F2	ORPHA:654
HP:0002793	Abnormal pattern of respiration	2719	GPC3	ORPHA:654
HP:0002793	Abnormal pattern of respiration	283120	H19	ORPHA:654
HP:0002793	Abnormal pattern of respiration	3949	LDLR	ORPHA:391665
HP:0002793	Abnormal pattern of respiration	255738	PCSK9	ORPHA:391665
HP:0002793	Abnormal pattern of respiration	26119	LDLRAP1	ORPHA:391665
HP:0002793	Abnormal pattern of respiration	338	APOB	ORPHA:391665
HP:0002793	Abnormal pattern of respiration	64240	ABCG5	ORPHA:391665
HP:0002793	Abnormal pattern of respiration	64241	ABCG8	ORPHA:391665
HP:0002793	Abnormal pattern of respiration	3753	KCNE1	ORPHA:334
HP:0002793	Abnormal pattern of respiration	2702	GJA5	ORPHA:334
HP:0002793	Abnormal pattern of respiration	3760	KCNJ3	ORPHA:334
HP:0002793	Abnormal pattern of respiration	3762	KCNJ5	ORPHA:334
HP:0002793	Abnormal pattern of respiration	4635	MYL4	ORPHA:334
HP:0002793	Abnormal pattern of respiration	1482	NKX2-5	ORPHA:334
HP:0002793	Abnormal pattern of respiration	1482	NKX2-5	ORPHA:871
HP:0002793	Abnormal pattern of respiration	1482	NKX2-5	ORPHA:99103
HP:0002793	Abnormal pattern of respiration	10060	ABCC9	ORPHA:334
HP:0002793	Abnormal pattern of respiration	137814	NKX2-6	ORPHA:334
HP:0002793	Abnormal pattern of respiration	55800	SCN3B	ORPHA:334
HP:0002793	Abnormal pattern of respiration	9992	KCNE2	ORPHA:334
HP:0002793	Abnormal pattern of respiration	2626	GATA4	ORPHA:334
HP:0002793	Abnormal pattern of respiration	2626	GATA4	ORPHA:99103
HP:0002793	Abnormal pattern of respiration	2627	GATA6	ORPHA:334
HP:0002793	Abnormal pattern of respiration	2627	GATA6	ORPHA:99103
HP:0002793	Abnormal pattern of respiration	5308	PITX2	ORPHA:334
HP:0002793	Abnormal pattern of respiration	6327	SCN2B	ORPHA:334
HP:0002793	Abnormal pattern of respiration	140628	GATA5	ORPHA:334
HP:0002793	Abnormal pattern of respiration	3759	KCNJ2	ORPHA:334
HP:0002793	Abnormal pattern of respiration	3784	KCNQ1	ORPHA:334
HP:0002793	Abnormal pattern of respiration	6324	SCN1B	ORPHA:334
HP:0002793	Abnormal pattern of respiration	6324	SCN1B	ORPHA:871
HP:0002793	Abnormal pattern of respiration	6331	SCN5A	ORPHA:334
HP:0002793	Abnormal pattern of respiration	6331	SCN5A	ORPHA:1344
HP:0002793	Abnormal pattern of respiration	6331	SCN5A	OMIM:113900
HP:0002793	Abnormal pattern of respiration	6331	SCN5A	ORPHA:871
HP:0002793	Abnormal pattern of respiration	6330	SCN4B	ORPHA:334
HP:0002793	Abnormal pattern of respiration	3741	KCNA5	ORPHA:334
HP:0002793	Abnormal pattern of respiration	9631	NUP155	ORPHA:334
HP:0002793	Abnormal pattern of respiration	4633	MYL2	OMIM:608758
HP:0002793	Abnormal pattern of respiration	3106	HLA-B	ORPHA:36426
HP:0002793	Abnormal pattern of respiration	3106	HLA-B	ORPHA:3287
HP:0002793	Abnormal pattern of respiration	10320	IKZF1	ORPHA:36426
HP:0002793	Abnormal pattern of respiration	5318	PKP2	OMIM:609040
HP:0002793	Abnormal pattern of respiration	56244	BTNL2	OMIM:612387
HP:0002793	Abnormal pattern of respiration	56244	BTNL2	ORPHA:797
HP:0002793	Abnormal pattern of respiration	11080	DNAJB4	OMIM:620326
HP:0002793	Abnormal pattern of respiration	291	SLC25A4	OMIM:615418
HP:0002793	Abnormal pattern of respiration	2717	GLA	ORPHA:324
HP:0002793	Abnormal pattern of respiration	81620	CDT1	ORPHA:2554
HP:0002793	Abnormal pattern of respiration	5000	ORC4	ORPHA:2554
HP:0002793	Abnormal pattern of respiration	23594	ORC6	ORPHA:2554
HP:0002793	Abnormal pattern of respiration	23594	ORC6	OMIM:613803
HP:0002793	Abnormal pattern of respiration	8318	CDC45	ORPHA:2554
HP:0002793	Abnormal pattern of respiration	990	CDC6	ORPHA:2554
HP:0002793	Abnormal pattern of respiration	4998	ORC1	ORPHA:2554
HP:0002793	Abnormal pattern of respiration	51053	GMNN	ORPHA:2554
HP:0002793	Abnormal pattern of respiration	54539	NDUFB11	ORPHA:2556
HP:0002793	Abnormal pattern of respiration	1349	COX7B	ORPHA:2556
HP:0002793	Abnormal pattern of respiration	3052	HCCS	ORPHA:2556
HP:0002793	Abnormal pattern of respiration	5277	PIGA	ORPHA:447
HP:0002793	Abnormal pattern of respiration	212	ALAS2	ORPHA:75563
HP:0002793	Abnormal pattern of respiration	2006	ELN	ORPHA:3193
HP:0002793	Abnormal pattern of respiration	2006	ELN	OMIM:123700
HP:0002793	Abnormal pattern of respiration	55863	TMEM126B	OMIM:618250
HP:0002793	Abnormal pattern of respiration	112812	FDX2	OMIM:251900
HP:0002793	Abnormal pattern of respiration	9496	TBX4	ORPHA:261279
HP:0002793	Abnormal pattern of respiration	546	ATRX	ORPHA:231401
HP:0002793	Abnormal pattern of respiration	7134	TNNC1	OMIM:613243
HP:0002793	Abnormal pattern of respiration	9244	CRLF1	OMIM:272430
HP:0002793	Abnormal pattern of respiration	3123	HLA-DRB1	ORPHA:797
HP:0002793	Abnormal pattern of respiration	3123	HLA-DRB1	ORPHA:747
HP:0002793	Abnormal pattern of respiration	3123	HLA-DRB1	OMIM:181000
HP:0002793	Abnormal pattern of respiration	3123	HLA-DRB1	ORPHA:220393
HP:0002793	Abnormal pattern of respiration	54795	TRPM4	ORPHA:871
HP:0002793	Abnormal pattern of respiration	57057	TBX20	ORPHA:99103
HP:0002793	Abnormal pattern of respiration	4624	MYH6	ORPHA:99103
HP:0002793	Abnormal pattern of respiration	9997	SCO2	OMIM:604377
HP:0002793	Abnormal pattern of respiration	5265	SERPINA1	OMIM:613490
HP:0002793	Abnormal pattern of respiration	10526	IPO8	OMIM:619472
HP:0002793	Abnormal pattern of respiration	11222	MRPL3	OMIM:614582
HP:0002793	Abnormal pattern of respiration	2548	GAA	OMIM:232300
HP:0002793	Abnormal pattern of respiration	84665	MYPN	ORPHA:75249
HP:0002793	Abnormal pattern of respiration	2318	FLNC	ORPHA:75249
HP:0002793	Abnormal pattern of respiration	7137	TNNI3	ORPHA:75249
HP:0002793	Abnormal pattern of respiration	10112	KIF20A	ORPHA:75249
HP:0002793	Abnormal pattern of respiration	10585	POMT1	ORPHA:86812
HP:0002793	Abnormal pattern of respiration	1314	COPA	OMIM:616414
HP:0002793	Abnormal pattern of respiration	57570	TRMT5	OMIM:616539
HP:0002793	Abnormal pattern of respiration	54800	KLHL24	OMIM:620236
HP:0002793	Abnormal pattern of respiration	50485	SMARCAL1	OMIM:242900
HP:0002793	Abnormal pattern of respiration	10551	AGR2	OMIM:620233
HP:0002793	Abnormal pattern of respiration	100151683	RNU4ATAC	ORPHA:2636
HP:0002793	Abnormal pattern of respiration	8815	BANF1	OMIM:614008
HP:0002793	Abnormal pattern of respiration	5236	PGM1	OMIM:614921
HP:0002793	Abnormal pattern of respiration	3593	IL12B	ORPHA:3287
HP:0002793	Abnormal pattern of respiration	6945	MLX	ORPHA:3287
HP:0002793	Abnormal pattern of respiration	25913	POT1	OMIM:620367
HP:0002793	Abnormal pattern of respiration	51778	MYOZ2	OMIM:613838
HP:0002793	Abnormal pattern of respiration	6609	SMPD1	OMIM:607616
HP:0002793	Abnormal pattern of respiration	2316	FLNA	ORPHA:555877
HP:0002793	Abnormal pattern of respiration	1439	CSF2RB	OMIM:614370
HP:0002793	Abnormal pattern of respiration	857	CAV1	OMIM:615343
HP:0002793	Abnormal pattern of respiration	857	CAV1	ORPHA:220393
HP:0002793	Abnormal pattern of respiration	1235	CCR6	ORPHA:220393
HP:0002793	Abnormal pattern of respiration	1490	CCN2	ORPHA:220393
HP:0002793	Abnormal pattern of respiration	3663	IRF5	ORPHA:220393
HP:0002793	Abnormal pattern of respiration	1829	DSG2	OMIM:612877
HP:0002793	Abnormal pattern of respiration	9131	AIFM1	ORPHA:238329
HP:0002793	Abnormal pattern of respiration	4702	NDUFA8	OMIM:619272
HP:0002793	Abnormal pattern of respiration	4594	MMUT	ORPHA:289916
HP:0002793	Abnormal pattern of respiration	4594	MMUT	ORPHA:79312
HP:0002793	Abnormal pattern of respiration	4594	MMUT	OMIM:251000
HP:0002793	Abnormal pattern of respiration	23394	ADNP	ORPHA:404448
HP:0002793	Abnormal pattern of respiration	28981	IFT81	OMIM:617895
HP:0002793	Abnormal pattern of respiration	57128	LYRM4	OMIM:615595
HP:0002793	Abnormal pattern of respiration	4574	MT-TS1	OMIM:220110
HP:0002793	Abnormal pattern of respiration	4570	MT-TN	OMIM:220110
HP:0002793	Abnormal pattern of respiration	6834	SURF1	OMIM:220110
HP:0002793	Abnormal pattern of respiration	55503	TRPV6	OMIM:618188
HP:0002793	Abnormal pattern of respiration	201595	STT3B	OMIM:615597
HP:0002793	Abnormal pattern of respiration	201595	STT3B	ORPHA:370924
HP:0002793	Abnormal pattern of respiration	10559	SLC35A1	ORPHA:238459
HP:0002793	Abnormal pattern of respiration	2050	EPHB4	OMIM:617300
HP:0002793	Abnormal pattern of respiration	65082	VPS33A	OMIM:617303
HP:0002793	Abnormal pattern of respiration	65082	VPS33A	ORPHA:505248
HP:0002793	Abnormal pattern of respiration	4137	MAPT	ORPHA:240085
HP:0002793	Abnormal pattern of respiration	4137	MAPT	ORPHA:240103
HP:0002793	Abnormal pattern of respiration	84466	MEGF10	OMIM:614399
HP:0002793	Abnormal pattern of respiration	58	ACTA1	OMIM:620278
HP:0002793	Abnormal pattern of respiration	1896	EDA	OMIM:305100
HP:0002793	Abnormal pattern of respiration	4509	MT-ATP8	ORPHA:254913
HP:0002793	Abnormal pattern of respiration	514	ATP5F1E	ORPHA:254913
HP:0002793	Abnormal pattern of respiration	513	ATP5F1D	ORPHA:254913
HP:0002793	Abnormal pattern of respiration	84833	ATP5MK	ORPHA:254913
HP:0002793	Abnormal pattern of respiration	91647	ATPAF2	ORPHA:254913
HP:0002793	Abnormal pattern of respiration	150094	SIK1	OMIM:616341
HP:0002793	Abnormal pattern of respiration	29967	LRP12	OMIM:164310
HP:0002793	Abnormal pattern of respiration	9570	GOSR2	OMIM:620166
HP:0002793	Abnormal pattern of respiration	79087	ALG12	OMIM:607143
HP:0002793	Abnormal pattern of respiration	860	RUNX2	OMIM:119600
HP:0002793	Abnormal pattern of respiration	23414	ZFPM2	ORPHA:2140
HP:0002793	Abnormal pattern of respiration	9361	LONP1	ORPHA:2140
HP:0002793	Abnormal pattern of respiration	6389	SDHA	OMIM:613642
HP:0002793	Abnormal pattern of respiration	1906	EDN1	ORPHA:137888
HP:0002793	Abnormal pattern of respiration	6234	RPS28	OMIM:606164
HP:0002793	Abnormal pattern of respiration	4534	MTM1	ORPHA:596
HP:0002793	Abnormal pattern of respiration	7840	ALMS1	ORPHA:64
HP:0002793	Abnormal pattern of respiration	3572	IL6ST	OMIM:619751
HP:0002793	Abnormal pattern of respiration	55768	NGLY1	OMIM:615273
HP:0002793	Abnormal pattern of respiration	2261	FGFR3	OMIM:616482
HP:0002793	Abnormal pattern of respiration	2261	FGFR3	OMIM:100800
HP:0002793	Abnormal pattern of respiration	1280	COL2A1	OMIM:151210
HP:0002793	Abnormal pattern of respiration	1280	COL2A1	OMIM:156550
HP:0002793	Abnormal pattern of respiration	1280	COL2A1	OMIM:183900
HP:0002793	Abnormal pattern of respiration	51660	MPC1	OMIM:614741
HP:0002793	Abnormal pattern of respiration	4613	MYCN	OMIM:620748
HP:0002793	Abnormal pattern of respiration	4613	MYCN	ORPHA:635
HP:0002793	Abnormal pattern of respiration	8239	USP9X	ORPHA:480880
HP:0002793	Abnormal pattern of respiration	8239	USP9X	OMIM:300968
HP:0002793	Abnormal pattern of respiration	3675	ITGA3	OMIM:614748
HP:0002793	Abnormal pattern of respiration	166785	MMAA	OMIM:251100
HP:0002793	Abnormal pattern of respiration	4247	MGAT2	ORPHA:79329
HP:0002793	Abnormal pattern of respiration	8818	DPM2	OMIM:615042
HP:0002793	Abnormal pattern of respiration	8818	DPM2	ORPHA:329178
HP:0002793	Abnormal pattern of respiration	9321	TRIP11	OMIM:184260
HP:0002793	Abnormal pattern of respiration	9321	TRIP11	ORPHA:166272
HP:0002793	Abnormal pattern of respiration	51098	IFT52	OMIM:617102
HP:0002793	Abnormal pattern of respiration	6231	RPS26	OMIM:613309
HP:0002793	Abnormal pattern of respiration	5373	PMM2	ORPHA:79318
HP:0002793	Abnormal pattern of respiration	8813	DPM1	OMIM:608799
HP:0002793	Abnormal pattern of respiration	64135	IFIH1	OMIM:619773
HP:0002793	Abnormal pattern of respiration	22906	TRAK1	OMIM:618201
HP:0002793	Abnormal pattern of respiration	9147	NEMF	OMIM:619099
HP:0002793	Abnormal pattern of respiration	50943	FOXP3	ORPHA:37042
HP:0002793	Abnormal pattern of respiration	7994	KAT6A	OMIM:616268
HP:0002793	Abnormal pattern of respiration	7317	UBA1	ORPHA:1145
HP:0002793	Abnormal pattern of respiration	3458	IFNG	ORPHA:805
HP:0002793	Abnormal pattern of respiration	55681	SCYL2	ORPHA:1143
HP:0002793	Abnormal pattern of respiration	84570	COL25A1	ORPHA:1143
HP:0002793	Abnormal pattern of respiration	57222	ERGIC1	ORPHA:1143
HP:0002793	Abnormal pattern of respiration	4556	MT-TE	ORPHA:2596
HP:0002793	Abnormal pattern of respiration	4556	MT-TE	ORPHA:254864
HP:0002793	Abnormal pattern of respiration	81570	CLPB	OMIM:616271
HP:0002793	Abnormal pattern of respiration	51067	YARS2	OMIM:613561
HP:0002793	Abnormal pattern of respiration	1188	CLCNKB	ORPHA:358
HP:0002793	Abnormal pattern of respiration	6559	SLC12A3	ORPHA:358
HP:0002793	Abnormal pattern of respiration	4000	LMNA	OMIM:619793
HP:0002793	Abnormal pattern of respiration	7167	TPI1	OMIM:615512
HP:0002793	Abnormal pattern of respiration	10806	SDCCAG8	OMIM:615993
HP:0002793	Abnormal pattern of respiration	1317	SLC31A1	OMIM:620306
HP:0002793	Abnormal pattern of respiration	5396	PRRX1	OMIM:202650
HP:0002793	Abnormal pattern of respiration	5396	PRRX1	ORPHA:990
HP:0002793	Abnormal pattern of respiration	5250	SLC25A3	ORPHA:91130
HP:0002793	Abnormal pattern of respiration	7512	XPNPEP2	ORPHA:100057
HP:0002793	Abnormal pattern of respiration	112	ADCY6	ORPHA:2680
HP:0002793	Abnormal pattern of respiration	163175	LGI4	ORPHA:2680
HP:0002793	Abnormal pattern of respiration	8506	CNTNAP1	ORPHA:2680
HP:0002793	Abnormal pattern of respiration	5649	RELN	ORPHA:89844
HP:0002793	Abnormal pattern of respiration	10300	KATNB1	ORPHA:89844
HP:0002793	Abnormal pattern of respiration	54820	NDE1	ORPHA:89844
HP:0002793	Abnormal pattern of respiration	6729	SRP54	OMIM:260400
HP:0002793	Abnormal pattern of respiration	51119	SBDS	OMIM:260400
HP:0002793	Abnormal pattern of respiration	134218	DNAJC21	OMIM:260400
HP:0002793	Abnormal pattern of respiration	10229	COQ7	OMIM:616733
HP:0002793	Abnormal pattern of respiration	8320	EOMES	ORPHA:171703
HP:0002793	Abnormal pattern of respiration	11093	ADAMTS13	OMIM:274150
HP:0002793	Abnormal pattern of respiration	3736	KCNA1	ORPHA:37612
HP:0002793	Abnormal pattern of respiration	1760	DMPK	OMIM:160900
HP:0002793	Abnormal pattern of respiration	3417	IDH1	ORPHA:99646
HP:0002793	Abnormal pattern of respiration	7547	ZIC3	OMIM:306955
HP:0002793	Abnormal pattern of respiration	427	ASAH1	ORPHA:333
HP:0002793	Abnormal pattern of respiration	1145	CHRNE	OMIM:605809
HP:0002793	Abnormal pattern of respiration	7084	TK2	ORPHA:254875
HP:0002793	Abnormal pattern of respiration	6777	STAT5B	OMIM:245590
HP:0002793	Abnormal pattern of respiration	7019	TFAM	OMIM:617156
HP:0002793	Abnormal pattern of respiration	4358	MPV17	OMIM:256810
HP:0002793	Abnormal pattern of respiration	22827	PUF60	ORPHA:508488
HP:0002793	Abnormal pattern of respiration	55687	TRMU	ORPHA:254864
HP:0002793	Abnormal pattern of respiration	7161	TP73	OMIM:619466
HP:0002793	Abnormal pattern of respiration	6638	SNRPN	ORPHA:177907
HP:0002793	Abnormal pattern of respiration	3868	KRT16	ORPHA:2309
HP:0002793	Abnormal pattern of respiration	3872	KRT17	ORPHA:2309
HP:0002793	Abnormal pattern of respiration	3853	KRT6A	ORPHA:2309
HP:0002793	Abnormal pattern of respiration	3854	KRT6B	ORPHA:2309
HP:0002793	Abnormal pattern of respiration	4548	MTR	OMIM:250940
HP:0002793	Abnormal pattern of respiration	9343	EFTUD2	OMIM:610536
HP:0002793	Abnormal pattern of respiration	26040	SETBP1	ORPHA:798
HP:0002793	Abnormal pattern of respiration	326625	MMAB	OMIM:251110
HP:0002793	Abnormal pattern of respiration	5015	OTX2	ORPHA:990
HP:0002793	Abnormal pattern of respiration	55975	KLHL7	OMIM:617055
HP:0002793	Abnormal pattern of respiration	5167	ENPP1	ORPHA:51608
HP:0002793	Abnormal pattern of respiration	368	ABCC6	ORPHA:51608
HP:0002793	Abnormal pattern of respiration	1103	CHAT	OMIM:254210
HP:0002793	Abnormal pattern of respiration	2033	EP300	OMIM:180849
HP:0002793	Abnormal pattern of respiration	1387	CREBBP	OMIM:180849
HP:0002793	Abnormal pattern of respiration	10382	TUBB4A	ORPHA:98805
HP:0002793	Abnormal pattern of respiration	56270	WDR45B	OMIM:617977
HP:0002793	Abnormal pattern of respiration	526	ATP6V1B2	ORPHA:79500
HP:0002793	Abnormal pattern of respiration	57465	TBC1D24	ORPHA:79500
HP:0002793	Abnormal pattern of respiration	2077	ERF	OMIM:617180
HP:0002793	Abnormal pattern of respiration	3557	IL1RN	OMIM:612852
HP:0002793	Abnormal pattern of respiration	126792	B3GALT6	ORPHA:536467
HP:0002793	Abnormal pattern of respiration	6748	SSR4	OMIM:300934
HP:0002793	Abnormal pattern of respiration	168667	BMPER	ORPHA:66637
HP:0002793	Abnormal pattern of respiration	168667	BMPER	OMIM:608022
HP:0002793	Abnormal pattern of respiration	25974	MMACHC	ORPHA:79282
HP:0002793	Abnormal pattern of respiration	2581	GALC	ORPHA:206436
HP:0002793	Abnormal pattern of respiration	5660	PSAP	ORPHA:206436
HP:0002793	Abnormal pattern of respiration	129285	PPP1R21	OMIM:619383
HP:0002793	Abnormal pattern of respiration	2294	FOXF1	ORPHA:210122
HP:0002793	Abnormal pattern of respiration	23040	MYT1L	ORPHA:647799
HP:0002793	Abnormal pattern of respiration	51626	DYNC2LI1	OMIM:617088
HP:0002793	Abnormal pattern of respiration	50484	RRM2B	OMIM:612075
HP:0002793	Abnormal pattern of respiration	35	ACADS	ORPHA:26792
HP:0002793	Abnormal pattern of respiration	8449	DHX16	OMIM:618733
HP:0002793	Abnormal pattern of respiration	11342	RNF13	ORPHA:544503
HP:0002793	Abnormal pattern of respiration	871	SERPINH1	OMIM:613848
HP:0002793	Abnormal pattern of respiration	3156	HMGCR	OMIM:620375
HP:0002793	Abnormal pattern of respiration	352909	DNAAF3	OMIM:606763
HP:0002793	Abnormal pattern of respiration	2110	ETFDH	OMIM:231680
HP:0002793	Abnormal pattern of respiration	2108	ETFA	OMIM:231680
HP:0002793	Abnormal pattern of respiration	2109	ETFB	OMIM:231680
HP:0002793	Abnormal pattern of respiration	238	ALK	ORPHA:635
HP:0002793	Abnormal pattern of respiration	389421	LIN28B	ORPHA:635
HP:0002793	Abnormal pattern of respiration	4004	LMO1	ORPHA:635
HP:0002793	Abnormal pattern of respiration	57531	HACE1	ORPHA:635
HP:0002793	Abnormal pattern of respiration	6584	SLC22A5	OMIM:212140
HP:0002793	Abnormal pattern of respiration	3155	HMGCL	ORPHA:20
HP:0002793	Abnormal pattern of respiration	4524	MTHFR	ORPHA:395
HP:0002793	Abnormal pattern of respiration	4728	NDUFS8	OMIM:618222
HP:0002793	Abnormal pattern of respiration	51422	PRKAG2	OMIM:261740
HP:0002793	Abnormal pattern of respiration	9759	HDAC4	OMIM:619797
HP:0002793	Abnormal pattern of respiration	4723	NDUFV1	OMIM:618225
HP:0002793	Abnormal pattern of respiration	590	BCHE	OMIM:617936
HP:0002793	Abnormal pattern of respiration	4719	NDUFS1	OMIM:618226
HP:0002793	Abnormal pattern of respiration	5332	PLCB4	OMIM:614669
HP:0002793	Abnormal pattern of respiration	1798	DPAGT1	OMIM:608093
HP:0002793	Abnormal pattern of respiration	95	ACY1	ORPHA:137754
HP:0002793	Abnormal pattern of respiration	4720	NDUFS2	OMIM:618228
HP:0002793	Abnormal pattern of respiration	2653	GCSH	OMIM:620423
HP:0002793	Abnormal pattern of respiration	53616	ADAM22	OMIM:617933
HP:0002793	Abnormal pattern of respiration	6334	SCN8A	ORPHA:306
HP:0002793	Abnormal pattern of respiration	6326	SCN2A	ORPHA:306
HP:0002793	Abnormal pattern of respiration	6326	SCN2A	ORPHA:140927
HP:0002793	Abnormal pattern of respiration	6326	SCN2A	OMIM:607745
HP:0002793	Abnormal pattern of respiration	3785	KCNQ2	ORPHA:306
HP:0002793	Abnormal pattern of respiration	3785	KCNQ2	ORPHA:140927
HP:0002793	Abnormal pattern of respiration	3785	KCNQ2	ORPHA:1949
HP:0002793	Abnormal pattern of respiration	3785	KCNQ2	ORPHA:439218
HP:0002793	Abnormal pattern of respiration	3786	KCNQ3	ORPHA:306
HP:0002793	Abnormal pattern of respiration	3786	KCNQ3	ORPHA:1949
HP:0002793	Abnormal pattern of respiration	4703	NEB	OMIM:256030
HP:0002793	Abnormal pattern of respiration	5830	PEX5	OMIM:214110
HP:0002793	Abnormal pattern of respiration	256297	PTF1A	OMIM:609069
HP:0002793	Abnormal pattern of respiration	10312	TCIRG1	ORPHA:667
HP:0002793	Abnormal pattern of respiration	1186	CLCN7	ORPHA:667
HP:0002793	Abnormal pattern of respiration	29887	SNX10	ORPHA:667
HP:0002793	Abnormal pattern of respiration	8600	TNFSF11	ORPHA:667
HP:0002793	Abnormal pattern of respiration	91942	NDUFAF2	OMIM:618233
HP:0002793	Abnormal pattern of respiration	60482	SLC5A7	OMIM:617143
HP:0002793	Abnormal pattern of respiration	6341	SCO1	OMIM:619048
HP:0002793	Abnormal pattern of respiration	249	ALPL	OMIM:241500
HP:0002793	Abnormal pattern of respiration	4695	NDUFA2	OMIM:618235
HP:0002793	Abnormal pattern of respiration	126328	NDUFA11	OMIM:618236
HP:0002793	Abnormal pattern of respiration	6536	SLC6A9	OMIM:617301
HP:0002793	Abnormal pattern of respiration	4649	MYO9A	OMIM:618198
HP:0002793	Abnormal pattern of respiration	29968	PSAT1	OMIM:610992
HP:0002793	Abnormal pattern of respiration	6662	SOX9	OMIM:114290
HP:0002793	Abnormal pattern of respiration	1644	DDC	OMIM:608643
HP:0002793	Abnormal pattern of respiration	1410	CRYAB	OMIM:613869
HP:0002793	Abnormal pattern of respiration	4784	NFIX	OMIM:602535
HP:0002793	Abnormal pattern of respiration	5105	PCK1	OMIM:261680
HP:0002793	Abnormal pattern of respiration	55906	ZC4H2	OMIM:314580
HP:0002793	Abnormal pattern of respiration	8260	NAA10	OMIM:300855
HP:0002793	Abnormal pattern of respiration	816	CAMK2B	OMIM:617799
HP:0002793	Abnormal pattern of respiration	6773	STAT2	OMIM:618886
HP:0002793	Abnormal pattern of respiration	686	BTD	OMIM:253260
HP:0002793	Abnormal pattern of respiration	686	BTD	ORPHA:79241
HP:0002793	Abnormal pattern of respiration	114034	TOE1	OMIM:614969
HP:0002793	Abnormal pattern of respiration	1509	CTSD	OMIM:610127
HP:0002793	Abnormal pattern of respiration	54675	CRLS1	OMIM:620167
HP:0002793	Abnormal pattern of respiration	79583	TMEM231	ORPHA:2318
HP:0002793	Abnormal pattern of respiration	79583	TMEM231	ORPHA:2754
HP:0002793	Abnormal pattern of respiration	51524	TMEM138	ORPHA:2318
HP:0002793	Abnormal pattern of respiration	23090	ZNF423	ORPHA:2318
HP:0002793	Abnormal pattern of respiration	80184	CEP290	ORPHA:2318
HP:0002793	Abnormal pattern of respiration	51259	TMEM216	ORPHA:2318
HP:0002793	Abnormal pattern of respiration	51259	TMEM216	ORPHA:2754
HP:0002793	Abnormal pattern of respiration	5621	PRNP	OMIM:600072
HP:0002793	Abnormal pattern of respiration	3767	KCNJ11	ORPHA:79644
HP:0002793	Abnormal pattern of respiration	8604	SLC25A12	OMIM:612949
HP:0002793	Abnormal pattern of respiration	5095	PCCA	OMIM:606054
HP:0002793	Abnormal pattern of respiration	5096	PCCB	OMIM:606054
HP:0002793	Abnormal pattern of respiration	2898	GRIK2	OMIM:619580
HP:0002793	Abnormal pattern of respiration	171023	ASXL1	ORPHA:97297
HP:0002793	Abnormal pattern of respiration	9184	BUB3	ORPHA:1052
HP:0002793	Abnormal pattern of respiration	699	BUB1	ORPHA:1052
HP:0002793	Abnormal pattern of respiration	9702	CEP57	ORPHA:1052
HP:0002793	Abnormal pattern of respiration	701	BUB1B	ORPHA:1052
HP:0002793	Abnormal pattern of respiration	3977	LIFR	OMIM:601559
HP:0002793	Abnormal pattern of respiration	3977	LIFR	ORPHA:3206
HP:0002793	Abnormal pattern of respiration	8802	SUCLG1	ORPHA:17
HP:0002793	Abnormal pattern of respiration	84314	TMEM107	OMIM:617563
HP:0002793	Abnormal pattern of respiration	4700	NDUFA6	OMIM:618253
HP:0002793	Abnormal pattern of respiration	23314	SATB2	OMIM:612313
HP:0002793	Abnormal pattern of respiration	56922	MCCC1	OMIM:210200
HP:0002793	Abnormal pattern of respiration	2783	GNB2	OMIM:619503
HP:0002793	Abnormal pattern of respiration	4632	MYL1	OMIM:618414
HP:0002793	Abnormal pattern of respiration	2752	GLUL	OMIM:610015
HP:0002793	Abnormal pattern of respiration	9734	HDAC9	OMIM:620457
HP:0002793	Abnormal pattern of respiration	9152	SLC6A5	OMIM:614618
HP:0002793	Abnormal pattern of respiration	2773	GNAI3	OMIM:602483
HP:0002793	Abnormal pattern of respiration	8943	AP3D1	OMIM:617050
HP:0002793	Abnormal pattern of respiration	11212	PLPBP	OMIM:617290
HP:0002793	Abnormal pattern of respiration	11019	LIAS	OMIM:614462
HP:0002793	Abnormal pattern of respiration	8929	PHOX2B	OMIM:209880
HP:0002793	Abnormal pattern of respiration	8021	NUP214	OMIM:618426
HP:0002793	Abnormal pattern of respiration	773	CACNA1A	ORPHA:2131
HP:0002793	Abnormal pattern of respiration	6507	SLC1A3	ORPHA:2131
HP:0002793	Abnormal pattern of respiration	477	ATP1A2	ORPHA:2131
HP:0002793	Abnormal pattern of respiration	478	ATP1A3	ORPHA:2131
HP:0002793	Abnormal pattern of respiration	9289	ADGRG1	ORPHA:98889
HP:0002793	Abnormal pattern of respiration	5297	PI4KA	ORPHA:98889
HP:0002793	Abnormal pattern of respiration	27286	SRPX2	ORPHA:98889
HP:0002793	Abnormal pattern of respiration	283446	MYO1H	OMIM:619482
HP:0002793	Abnormal pattern of respiration	728294	D2HGDH	OMIM:600721
HP:0002793	Abnormal pattern of respiration	10660	LBX1	OMIM:619483
HP:0002793	Abnormal pattern of respiration	23522	KAT6B	ORPHA:85201
HP:0002793	Abnormal pattern of respiration	283989	TSEN54	ORPHA:2524
HP:0002793	Abnormal pattern of respiration	116461	TSEN15	ORPHA:2524
HP:0002793	Abnormal pattern of respiration	79042	TSEN34	ORPHA:2524
HP:0002793	Abnormal pattern of respiration	80746	TSEN2	ORPHA:2524
HP:0002793	Abnormal pattern of respiration	51091	SEPSECS	ORPHA:2524
HP:0002793	Abnormal pattern of respiration	4976	OPA1	OMIM:616896
HP:0002793	Abnormal pattern of respiration	10243	GPHN	OMIM:149400
HP:0002793	Abnormal pattern of respiration	2741	GLRA1	OMIM:149400
HP:0002793	Abnormal pattern of respiration	9373	PLAA	ORPHA:521426
HP:0002793	Abnormal pattern of respiration	9373	PLAA	OMIM:617527
HP:0002793	Abnormal pattern of respiration	57038	RARS2	OMIM:611523
HP:0002793	Abnormal pattern of respiration	9562	MINPP1	OMIM:619527
HP:0002793	Abnormal pattern of respiration	7841	MOGS	ORPHA:79330
HP:0002793	Abnormal pattern of respiration	8241	RBM10	ORPHA:2886
HP:0002793	Abnormal pattern of respiration	139285	AMER1	OMIM:300373
HP:0002793	Abnormal pattern of respiration	1376	CPT2	OMIM:608836
HP:0002793	Abnormal pattern of respiration	54941	RNF125	OMIM:616260
HP:0002793	Abnormal pattern of respiration	3798	KIF5A	OMIM:617235
HP:0002793	Abnormal pattern of respiration	6572	SLC18A3	OMIM:617239
HP:0002793	Abnormal pattern of respiration	2902	GRIN1	OMIM:619814
HP:0002793	Abnormal pattern of respiration	4724	NDUFS4	OMIM:252010
HP:0002793	Abnormal pattern of respiration	5194	PEX13	OMIM:614883
HP:0002793	Abnormal pattern of respiration	54148	MRPL39	OMIM:620646
HP:0002793	Abnormal pattern of respiration	3339	HSPG2	ORPHA:800
HP:0002793	Abnormal pattern of respiration	10210	TOPORS	ORPHA:2754
HP:0002793	Abnormal pattern of respiration	317662	FAM149B1	ORPHA:2754
HP:0002793	Abnormal pattern of respiration	374654	KIF7	ORPHA:2754
HP:0002793	Abnormal pattern of respiration	1892	ECHS1	OMIM:616277
HP:0002793	Abnormal pattern of respiration	51117	COQ4	OMIM:616276
HP:0002793	Abnormal pattern of respiration	221927	BRAT1	OMIM:618056
HP:0002793	Abnormal pattern of respiration	221927	BRAT1	OMIM:614498
HP:0002793	Abnormal pattern of respiration	667	DST	OMIM:614653
HP:0002793	Abnormal pattern of respiration	27429	HTRA2	OMIM:617248
HP:0002793	Abnormal pattern of respiration	3329	HSPD1	OMIM:612233
HP:0002793	Abnormal pattern of respiration	2200	FBN1	ORPHA:2462
HP:0002793	Abnormal pattern of respiration	6497	SKI	ORPHA:2462
HP:0002793	Abnormal pattern of respiration	498	ATP5F1A	OMIM:615228
HP:0002793	Abnormal pattern of respiration	5813	PURA	ORPHA:314655
HP:0002793	Abnormal pattern of respiration	435	ASL	ORPHA:23
HP:0002793	Abnormal pattern of respiration	10128	LRPPRC	OMIM:220111
HP:0002793	Abnormal pattern of respiration	6899	TBX1	ORPHA:3384
HP:0002793	Abnormal pattern of respiration	23129	PLXND1	ORPHA:3384
HP:0002793	Abnormal pattern of respiration	37	ACADVL	OMIM:201475
HP:0002793	Abnormal pattern of respiration	37	ACADVL	ORPHA:26793
HP:0002793	Abnormal pattern of respiration	763	CA5A	OMIM:615751
HP:0002793	Abnormal pattern of respiration	4519	MT-CYB	ORPHA:137675
HP:0002793	Abnormal pattern of respiration	5019	OXCT1	OMIM:245050
HP:0002793	Abnormal pattern of respiration	90624	LYRM7	OMIM:615838
HP:0002793	Abnormal pattern of respiration	10056	FARSB	OMIM:613658
HP:0002793	Abnormal pattern of respiration	6261	RYR1	ORPHA:466650
HP:0002793	Abnormal pattern of respiration	6261	RYR1	ORPHA:423
HP:0002793	Abnormal pattern of respiration	415	ARSL	ORPHA:79345
HP:0002793	Abnormal pattern of respiration	779	CACNA1S	ORPHA:423
HP:0002793	Abnormal pattern of respiration	162417	NAGS	OMIM:237310
HP:0002793	Abnormal pattern of respiration	374354	NHLRC2	OMIM:618278
HP:0002793	Abnormal pattern of respiration	3141	HLCS	OMIM:253270
HP:0002793	Abnormal pattern of respiration	3141	HLCS	ORPHA:79242
HP:0002793	Abnormal pattern of respiration	3508	IGHMBP2	OMIM:604320
HP:0002793	Abnormal pattern of respiration	10166	SLC25A15	ORPHA:415
HP:0002793	Abnormal pattern of respiration	38	ACAT1	ORPHA:134
HP:0002793	Abnormal pattern of respiration	1438	CSF2RA	OMIM:300770
HP:0002793	Abnormal pattern of respiration	1438	CSF2RA	ORPHA:264675
HP:0002793	Abnormal pattern of respiration	388753	COA6	OMIM:616501
HP:0002793	Abnormal pattern of respiration	340061	STING1	OMIM:615934
HP:0002793	Abnormal pattern of respiration	439	GET3	OMIM:620203
HP:0002793	Abnormal pattern of respiration	59	ACTA2	OMIM:613834
HP:0002793	Abnormal pattern of respiration	506	ATP5F1B	OMIM:620085
HP:0002793	Abnormal pattern of respiration	51025	PAM16	OMIM:613320
HP:0002793	Abnormal pattern of respiration	388962	BOLA3	OMIM:614299
HP:0002793	Abnormal pattern of respiration	5826	ABCD4	OMIM:614857
HP:0002793	Abnormal pattern of respiration	7080	NKX2-1	OMIM:610978
HP:0002793	Abnormal pattern of respiration	6005	RHAG	ORPHA:71275
HP:0002793	Abnormal pattern of respiration	6006	RHCE	ORPHA:71275
HP:0002793	Abnormal pattern of respiration	6007	RHD	ORPHA:71275
HP:0002793	Abnormal pattern of respiration	1756	DMD	OMIM:310200
HP:0002793	Abnormal pattern of respiration	5428	POLG	OMIM:203700
HP:0002793	Abnormal pattern of respiration	100033413	SNORD116-1	OMIM:176270
HP:0002793	Abnormal pattern of respiration	8924	HERC2	OMIM:176270
HP:0002793	Abnormal pattern of respiration	23742	NPAP1	OMIM:176270
HP:0002793	Abnormal pattern of respiration	338433	SNORD115-1	OMIM:176270
HP:0002793	Abnormal pattern of respiration	54551	MAGEL2	OMIM:176270
HP:0002793	Abnormal pattern of respiration	7681	MKRN3	OMIM:176270
HP:0002793	Abnormal pattern of respiration	145624	PWAR1	OMIM:176270
HP:0002793	Abnormal pattern of respiration	3653	IPW	OMIM:176270
HP:0002793	Abnormal pattern of respiration	791114	PWRN1	OMIM:176270
HP:0002793	Abnormal pattern of respiration	54681	P4HTM	OMIM:618493
HP:0002793	Abnormal pattern of respiration	4726	NDUFS6	OMIM:618232
HP:0002793	Abnormal pattern of respiration	79628	SH3TC2	ORPHA:99949
HP:0002793	Abnormal pattern of respiration	8292	COLQ	ORPHA:98915
HP:0002793	Abnormal pattern of respiration	3913	LAMB2	ORPHA:98915
HP:0002793	Abnormal pattern of respiration	1974	EIF4A2	OMIM:620455
HP:0002793	Abnormal pattern of respiration	29072	SETD2	OMIM:620155
HP:0002793	Abnormal pattern of respiration	3908	LAMA2	ORPHA:258
HP:0002793	Abnormal pattern of respiration	199221	DZIP1L	ORPHA:731
HP:0002793	Abnormal pattern of respiration	5314	PKHD1	ORPHA:731
HP:0002793	Abnormal pattern of respiration	1303	COL12A1	ORPHA:610
HP:0002793	Abnormal pattern of respiration	1291	COL6A1	ORPHA:610
HP:0002793	Abnormal pattern of respiration	1292	COL6A2	ORPHA:610
HP:0002793	Abnormal pattern of respiration	1293	COL6A3	ORPHA:610
HP:0002793	Abnormal pattern of respiration	1353	COX11	OMIM:620275
HP:0002793	Abnormal pattern of respiration	9851	KIAA0753	ORPHA:475
HP:0002793	Abnormal pattern of respiration	5147	PDE6D	ORPHA:475
HP:0002793	Abnormal pattern of respiration	79600	TCTN1	ORPHA:475
HP:0002793	Abnormal pattern of respiration	79848	CSPP1	ORPHA:475
HP:0002793	Abnormal pattern of respiration	8481	OFD1	ORPHA:475
HP:0002793	Abnormal pattern of respiration	51684	SUFU	ORPHA:475
HP:0002793	Abnormal pattern of respiration	54806	AHI1	ORPHA:475
HP:0002793	Abnormal pattern of respiration	54806	AHI1	ORPHA:220493
HP:0002793	Abnormal pattern of respiration	153241	CEP120	ORPHA:475
HP:0002793	Abnormal pattern of respiration	153241	CEP120	ORPHA:220493
HP:0002793	Abnormal pattern of respiration	65250	CPLANE1	ORPHA:475
HP:0002793	Abnormal pattern of respiration	91147	TMEM67	ORPHA:475
HP:0002793	Abnormal pattern of respiration	91147	TMEM67	ORPHA:1454
HP:0002793	Abnormal pattern of respiration	200894	ARL13B	ORPHA:475
HP:0002793	Abnormal pattern of respiration	9731	CEP104	ORPHA:475
HP:0002793	Abnormal pattern of respiration	219844	HYLS1	ORPHA:475
HP:0002793	Abnormal pattern of respiration	23247	KATNIP	ORPHA:475
HP:0002793	Abnormal pattern of respiration	219854	TMEM218	ORPHA:475
HP:0002793	Abnormal pattern of respiration	54903	MKS1	ORPHA:475
HP:0002793	Abnormal pattern of respiration	54903	MKS1	ORPHA:220493
HP:0002793	Abnormal pattern of respiration	95681	CEP41	ORPHA:475
HP:0002793	Abnormal pattern of respiration	95681	CEP41	ORPHA:220493
HP:0002793	Abnormal pattern of respiration	9786	KIAA0586	ORPHA:475
HP:0002793	Abnormal pattern of respiration	56623	INPP5E	ORPHA:475
HP:0002793	Abnormal pattern of respiration	56623	INPP5E	ORPHA:1454
HP:0002793	Abnormal pattern of respiration	56623	INPP5E	ORPHA:220493
HP:0002793	Abnormal pattern of respiration	26123	TCTN3	ORPHA:475
HP:0002793	Abnormal pattern of respiration	79867	TCTN2	ORPHA:475
HP:0002793	Abnormal pattern of respiration	80776	B9D2	ORPHA:475
HP:0002793	Abnormal pattern of respiration	10464	PIBF1	ORPHA:475
HP:0002793	Abnormal pattern of respiration	80210	ARMC9	ORPHA:475
HP:0002793	Abnormal pattern of respiration	23116	TOGARAM1	ORPHA:475
HP:0002793	Abnormal pattern of respiration	25776	CBY1	ORPHA:475
HP:0002793	Abnormal pattern of respiration	27077	B9D1	ORPHA:475
HP:0002793	Abnormal pattern of respiration	403	ARL3	ORPHA:475
HP:0002793	Abnormal pattern of respiration	80173	IFT74	ORPHA:475
HP:0002793	Abnormal pattern of respiration	65062	TMEM237	ORPHA:475
HP:0002793	Abnormal pattern of respiration	65062	TMEM237	ORPHA:220497
HP:0002793	Abnormal pattern of respiration	7259	TSPYL1	ORPHA:168593
HP:0002793	Abnormal pattern of respiration	7259	TSPYL1	OMIM:608800
HP:0002793	Abnormal pattern of respiration	4487	MSX1	ORPHA:141291
HP:0002793	Abnormal pattern of respiration	5818	NECTIN1	ORPHA:141291
HP:0002793	Abnormal pattern of respiration	8626	TP63	ORPHA:141291
HP:0002793	Abnormal pattern of respiration	3664	IRF6	ORPHA:141291
HP:0002793	Abnormal pattern of respiration	2260	FGFR1	ORPHA:220386
HP:0002793	Abnormal pattern of respiration	2260	FGFR1	ORPHA:93924
HP:0002793	Abnormal pattern of respiration	28514	DLL1	ORPHA:220386
HP:0002793	Abnormal pattern of respiration	28514	DLL1	ORPHA:93926
HP:0002793	Abnormal pattern of respiration	28514	DLL1	ORPHA:93924
HP:0002793	Abnormal pattern of respiration	28514	DLL1	ORPHA:93925
HP:0002793	Abnormal pattern of respiration	10735	STAG2	ORPHA:220386
HP:0002793	Abnormal pattern of respiration	10735	STAG2	ORPHA:93925
HP:0002793	Abnormal pattern of respiration	2253	FGF8	ORPHA:220386
HP:0002793	Abnormal pattern of respiration	2253	FGF8	ORPHA:93926
HP:0002793	Abnormal pattern of respiration	2253	FGF8	ORPHA:93924
HP:0002793	Abnormal pattern of respiration	2253	FGF8	ORPHA:93925
HP:0002793	Abnormal pattern of respiration	8243	SMC1A	ORPHA:220386
HP:0002793	Abnormal pattern of respiration	8243	SMC1A	ORPHA:3095
HP:0002793	Abnormal pattern of respiration	6496	SIX3	ORPHA:220386
HP:0002793	Abnormal pattern of respiration	6496	SIX3	ORPHA:93926
HP:0002793	Abnormal pattern of respiration	6496	SIX3	ORPHA:93924
HP:0002793	Abnormal pattern of respiration	6496	SIX3	ORPHA:93925
HP:0002793	Abnormal pattern of respiration	7050	TGIF1	ORPHA:220386
HP:0002793	Abnormal pattern of respiration	7050	TGIF1	ORPHA:93926
HP:0002793	Abnormal pattern of respiration	7050	TGIF1	ORPHA:93924
HP:0002793	Abnormal pattern of respiration	7050	TGIF1	ORPHA:93925
HP:0002793	Abnormal pattern of respiration	4838	NODAL	ORPHA:220386
HP:0002793	Abnormal pattern of respiration	4838	NODAL	ORPHA:93926
HP:0002793	Abnormal pattern of respiration	4838	NODAL	ORPHA:93924
HP:0002793	Abnormal pattern of respiration	4838	NODAL	ORPHA:93925
HP:0002793	Abnormal pattern of respiration	6469	SHH	ORPHA:220386
HP:0002793	Abnormal pattern of respiration	6469	SHH	ORPHA:93926
HP:0002793	Abnormal pattern of respiration	6469	SHH	ORPHA:93924
HP:0002793	Abnormal pattern of respiration	6469	SHH	ORPHA:93925
HP:0002793	Abnormal pattern of respiration	7546	ZIC2	ORPHA:220386
HP:0002793	Abnormal pattern of respiration	7546	ZIC2	ORPHA:93926
HP:0002793	Abnormal pattern of respiration	7546	ZIC2	ORPHA:93924
HP:0002793	Abnormal pattern of respiration	7546	ZIC2	ORPHA:93925
HP:0002793	Abnormal pattern of respiration	6491	STIL	ORPHA:220386
HP:0002793	Abnormal pattern of respiration	6491	STIL	ORPHA:93926
HP:0002793	Abnormal pattern of respiration	6491	STIL	ORPHA:93924
HP:0002793	Abnormal pattern of respiration	6491	STIL	ORPHA:93925
HP:0002793	Abnormal pattern of respiration	2619	GAS1	ORPHA:220386
HP:0002793	Abnormal pattern of respiration	2619	GAS1	ORPHA:93926
HP:0002793	Abnormal pattern of respiration	2619	GAS1	ORPHA:93924
HP:0002793	Abnormal pattern of respiration	2619	GAS1	ORPHA:93925
HP:0002793	Abnormal pattern of respiration	84976	DISP1	ORPHA:220386
HP:0002793	Abnormal pattern of respiration	84976	DISP1	ORPHA:93926
HP:0002793	Abnormal pattern of respiration	84976	DISP1	ORPHA:93924
HP:0002793	Abnormal pattern of respiration	84976	DISP1	ORPHA:93925
HP:0002793	Abnormal pattern of respiration	2736	GLI2	ORPHA:220386
HP:0002793	Abnormal pattern of respiration	2736	GLI2	ORPHA:93926
HP:0002793	Abnormal pattern of respiration	2736	GLI2	ORPHA:93924
HP:0002793	Abnormal pattern of respiration	2736	GLI2	ORPHA:93925
HP:0002793	Abnormal pattern of respiration	8928	FOXH1	ORPHA:220386
HP:0002793	Abnormal pattern of respiration	8928	FOXH1	ORPHA:93926
HP:0002793	Abnormal pattern of respiration	8928	FOXH1	ORPHA:93924
HP:0002793	Abnormal pattern of respiration	8928	FOXH1	ORPHA:93925
HP:0002793	Abnormal pattern of respiration	6997	CRIPTO	ORPHA:220386
HP:0002793	Abnormal pattern of respiration	6997	CRIPTO	ORPHA:93926
HP:0002793	Abnormal pattern of respiration	6997	CRIPTO	ORPHA:93924
HP:0002793	Abnormal pattern of respiration	6997	CRIPTO	ORPHA:93925
HP:0002793	Abnormal pattern of respiration	5727	PTCH1	ORPHA:220386
HP:0002793	Abnormal pattern of respiration	5727	PTCH1	ORPHA:93926
HP:0002793	Abnormal pattern of respiration	5727	PTCH1	ORPHA:93924
HP:0002793	Abnormal pattern of respiration	5727	PTCH1	ORPHA:93925
HP:0002793	Abnormal pattern of respiration	50937	CDON	ORPHA:220386
HP:0002793	Abnormal pattern of respiration	50937	CDON	ORPHA:93926
HP:0002793	Abnormal pattern of respiration	50937	CDON	ORPHA:93924
HP:0002793	Abnormal pattern of respiration	50937	CDON	ORPHA:93925
HP:0002793	Abnormal pattern of respiration	2767	GNA11	ORPHA:428
HP:0002793	Abnormal pattern of respiration	846	CASR	ORPHA:428
HP:0002793	Abnormal pattern of respiration	51322	WAC	ORPHA:466950
HP:0002793	Abnormal pattern of respiration	6925	TCF4	ORPHA:2896
HP:0002793	Abnormal pattern of respiration	259232	NALCN	ORPHA:562528
HP:0002793	Abnormal pattern of respiration	6792	CDKL5	ORPHA:3095
HP:0002793	Abnormal pattern of respiration	22854	NTNG1	ORPHA:3095
HP:0002793	Abnormal pattern of respiration	9568	GABBR2	ORPHA:3095
HP:0002793	Abnormal pattern of respiration	4204	MECP2	ORPHA:3095
HP:0002793	Abnormal pattern of respiration	4204	MECP2	ORPHA:778
HP:0002793	Abnormal pattern of respiration	5903	RANBP2	ORPHA:88619
HP:0002793	Abnormal pattern of respiration	2629	GBA1	ORPHA:77260
HP:0002793	Abnormal pattern of respiration	27161	AGO2	OMIM:619149
HP:0002793	Abnormal pattern of respiration	23322	RPGRIP1L	ORPHA:220497
HP:0002793	Abnormal pattern of respiration	23322	RPGRIP1L	ORPHA:1454
HP:0002793	Abnormal pattern of respiration	4867	NPHP1	ORPHA:220497
HP:0002793	Abnormal pattern of respiration	57545	CC2D2A	ORPHA:1454
HP:0002793	Abnormal pattern of respiration	23007	PLCH1	ORPHA:93925
HP:0002793	Abnormal pattern of respiration	4692	NDN	ORPHA:177904
HP:0002793	Abnormal pattern of respiration	4692	NDN	ORPHA:177901
HP:0002793	Abnormal pattern of respiration	4692	NDN	ORPHA:98754
HP:0002793	Abnormal pattern of respiration	4948	OCA2	ORPHA:177904
HP:0002793	Abnormal pattern of respiration	4948	OCA2	ORPHA:177901
HP:0002793	Abnormal pattern of respiration	4948	OCA2	ORPHA:98754
HP:0002793	Abnormal pattern of respiration	9895	TECPR2	ORPHA:320385
HP:0002793	Abnormal pattern of respiration	9895	TECPR2	OMIM:615031
HP:0002793	Abnormal pattern of respiration	54902	TTC19	OMIM:615157
HP:0002793	Abnormal pattern of respiration	493856	CISD2	ORPHA:3463
HP:0002793	Abnormal pattern of respiration	7466	WFS1	ORPHA:3463
HP:0002793	Abnormal pattern of respiration	23299	BICD2	OMIM:618291
HP:0002793	Abnormal pattern of respiration	4929	NR4A2	ORPHA:1617
HP:0002793	Abnormal pattern of respiration	10716	TBR1	ORPHA:1617
HP:0002793	Abnormal pattern of respiration	26834	RNU4-2	OMIM:620851
HP:0002793	Abnormal pattern of respiration	6843	VAMP1	ORPHA:98914
HP:0002793	Abnormal pattern of respiration	127833	SYT2	ORPHA:98914
HP:0002793	Abnormal pattern of respiration	6616	SNAP25	ORPHA:98914
HP:0002793	Abnormal pattern of respiration	5160	PDHA1	OMIM:312170
HP:0002793	Abnormal pattern of respiration	10019	SH2B3	OMIM:133100
HP:0002793	Abnormal pattern of respiration	3717	JAK2	OMIM:133100
HP:0002793	Abnormal pattern of respiration	56652	TWNK	ORPHA:254892
HP:0002793	Abnormal pattern of respiration	11232	POLG2	ORPHA:254892
HP:0002793	Abnormal pattern of respiration	10486	CAP2	ORPHA:154
HP:0002793	Abnormal pattern of respiration	7716	VEZF1	ORPHA:154
HP:0002793	Abnormal pattern of respiration	7168	TPM1	ORPHA:154
HP:0002793	Abnormal pattern of respiration	27063	ANKRD1	ORPHA:154
HP:0002793	Abnormal pattern of respiration	5350	PLN	ORPHA:154
HP:0002793	Abnormal pattern of respiration	5664	PSEN2	ORPHA:154
HP:0002793	Abnormal pattern of respiration	9529	BAG5	ORPHA:154
HP:0002793	Abnormal pattern of respiration	11155	LDB3	ORPHA:154
HP:0002793	Abnormal pattern of respiration	2274	FHL2	ORPHA:154
HP:0002793	Abnormal pattern of respiration	1674	DES	ORPHA:154
HP:0002793	Abnormal pattern of respiration	442721	LMOD2	ORPHA:154
HP:0002793	Abnormal pattern of respiration	8557	TCAP	ORPHA:154
HP:0002793	Abnormal pattern of respiration	9015	TAF1A	ORPHA:154
HP:0002793	Abnormal pattern of respiration	5663	PSEN1	ORPHA:154
HP:0002793	Abnormal pattern of respiration	7112	TMPO	ORPHA:154
HP:0002793	Abnormal pattern of respiration	9464	HAND2	ORPHA:154
HP:0002793	Abnormal pattern of respiration	88	ACTN2	ORPHA:154
HP:0002793	Abnormal pattern of respiration	7414	VCL	ORPHA:154
HP:0002793	Abnormal pattern of respiration	7414	VCL	OMIM:613255
HP:0002793	Abnormal pattern of respiration	1832	DSP	ORPHA:154
HP:0002793	Abnormal pattern of respiration	1832	DSP	ORPHA:2032
HP:0002793	Abnormal pattern of respiration	6123	RPL3L	ORPHA:154
HP:0002793	Abnormal pattern of respiration	8048	CSRP3	ORPHA:154
HP:0002793	Abnormal pattern of respiration	3910	LAMA4	ORPHA:154
HP:0002793	Abnormal pattern of respiration	63976	PRDM16	ORPHA:154
HP:0002793	Abnormal pattern of respiration	10587	TXNRD2	ORPHA:154
HP:0002793	Abnormal pattern of respiration	9531	BAG3	ORPHA:154
HP:0002793	Abnormal pattern of respiration	91624	NEXN	ORPHA:154
HP:0002793	Abnormal pattern of respiration	79717	PPCS	ORPHA:154
HP:0002793	Abnormal pattern of respiration	282996	RBM20	ORPHA:154
HP:0002793	Abnormal pattern of respiration	6901	TAFAZZIN	ORPHA:154
HP:0002793	Abnormal pattern of respiration	22845	DOLK	ORPHA:154
HP:0002793	Abnormal pattern of respiration	5894	RAF1	ORPHA:154
HP:0002793	Abnormal pattern of respiration	57798	GATAD1	ORPHA:154
HP:0002793	Abnormal pattern of respiration	6444	SGCD	ORPHA:154
HP:0002793	Abnormal pattern of respiration	2218	FKTN	ORPHA:154
HP:0002793	Abnormal pattern of respiration	1727	CYB5R3	OMIM:250800
HP:0002793	Abnormal pattern of respiration	1727	CYB5R3	ORPHA:621
HP:0002793	Abnormal pattern of respiration	84334	COA8	ORPHA:436271
HP:0002793	Abnormal pattern of respiration	4629	MYH11	ORPHA:229
HP:0002793	Abnormal pattern of respiration	4629	MYH11	ORPHA:91387
HP:0002793	Abnormal pattern of respiration	63895	PIEZO2	OMIM:108145
HP:0002793	Abnormal pattern of respiration	1528	CYB5A	ORPHA:621
HP:0002793	Abnormal pattern of respiration	5339	PLEC	ORPHA:254361
HP:0002793	Abnormal pattern of respiration	10269	ZMPSTE24	ORPHA:740
HP:0002793	Abnormal pattern of respiration	5573	PRKAR1A	ORPHA:615
HP:0002793	Abnormal pattern of respiration	5573	PRKAR1A	ORPHA:520
HP:0002793	Abnormal pattern of respiration	1134	CHRNA1	ORPHA:98913
HP:0002793	Abnormal pattern of respiration	4038	LRP4	ORPHA:98913
HP:0002793	Abnormal pattern of respiration	1305	COL13A1	ORPHA:98913
HP:0002793	Abnormal pattern of respiration	1140	CHRNB1	ORPHA:98913
HP:0002793	Abnormal pattern of respiration	1144	CHRND	ORPHA:98913
HP:0002793	Abnormal pattern of respiration	4593	MUSK	ORPHA:98913
HP:0002793	Abnormal pattern of respiration	5913	RAPSN	ORPHA:98913
HP:0002793	Abnormal pattern of respiration	375790	AGRN	ORPHA:98913
HP:0002793	Abnormal pattern of respiration	221264	AK9	ORPHA:98913
HP:0002793	Abnormal pattern of respiration	285489	DOK7	ORPHA:98913
HP:0002793	Abnormal pattern of respiration	34	ACADM	ORPHA:42
HP:0002793	Abnormal pattern of respiration	79572	ATP13A3	OMIM:265400
HP:0002793	Abnormal pattern of respiration	79991	STN1	ORPHA:2032
HP:0002793	Abnormal pattern of respiration	10144	FAM13A	ORPHA:2032
HP:0002793	Abnormal pattern of respiration	23250	ATP11A	ORPHA:2032
HP:0002793	Abnormal pattern of respiration	91039	DPP9	ORPHA:2032
HP:0002793	Abnormal pattern of respiration	51750	RTEL1	ORPHA:2032
HP:0002793	Abnormal pattern of respiration	5073	PARN	ORPHA:2032
HP:0002793	Abnormal pattern of respiration	4634	MYL3	OMIM:608751
HP:0002793	Abnormal pattern of respiration	5837	PYGM	ORPHA:368
HP:0002793	Abnormal pattern of respiration	6774	STAT3	ORPHA:520
HP:0002793	Abnormal pattern of respiration	5371	PML	ORPHA:520
HP:0002793	Abnormal pattern of respiration	5914	RARA	ORPHA:520
HP:0002793	Abnormal pattern of respiration	359948	IRF2BP2	ORPHA:520
HP:0002793	Abnormal pattern of respiration	81608	FIP1L1	ORPHA:520
HP:0002793	Abnormal pattern of respiration	4869	NPM1	ORPHA:520
HP:0002793	Abnormal pattern of respiration	54880	BCOR	ORPHA:520
HP:0002793	Abnormal pattern of respiration	64859	NABP1	ORPHA:520
HP:0002793	Abnormal pattern of respiration	4926	NUMA1	ORPHA:520
HP:0002793	Abnormal pattern of respiration	7704	ZBTB16	ORPHA:520
HP:0002793	Abnormal pattern of respiration	79718	TBL1XR1	ORPHA:520
HP:0002793	Abnormal pattern of respiration	2992	GYG1	ORPHA:263297
HP:0002793	Abnormal pattern of respiration	7046	TGFBR1	ORPHA:91387
HP:0002793	Abnormal pattern of respiration	7048	TGFBR2	ORPHA:91387
HP:0002793	Abnormal pattern of respiration	4015	LOX	ORPHA:91387
HP:0002793	Abnormal pattern of respiration	4087	SMAD2	ORPHA:91387
HP:0002793	Abnormal pattern of respiration	7043	TGFB3	ORPHA:91387
HP:0002793	Abnormal pattern of respiration	4088	SMAD3	ORPHA:91387
HP:0002793	Abnormal pattern of respiration	7042	TGFB2	ORPHA:91387
HP:0002793	Abnormal pattern of respiration	4089	SMAD4	ORPHA:91387
HP:0002793	Abnormal pattern of respiration	5592	PRKG1	ORPHA:91387
HP:0002793	Abnormal pattern of respiration	2301	FOXE3	ORPHA:91387
HP:0002793	Abnormal pattern of respiration	4144	MAT2A	ORPHA:91387
HP:0002793	Abnormal pattern of respiration	23493	HEY2	ORPHA:91387
HP:0002793	Abnormal pattern of respiration	8076	MFAP5	ORPHA:91387
HP:0002793	Abnormal pattern of respiration	4638	MYLK	ORPHA:91387
HP:0002793	Abnormal pattern of respiration	79875	THSD4	ORPHA:91387
HP:0002793	Abnormal pattern of respiration	7385	UQCRC2	OMIM:615160
HP:0002793	Abnormal pattern of respiration	3190	HNRNPK	ORPHA:453504
HP:0002793	Abnormal pattern of respiration	3190	HNRNPK	ORPHA:352665
HP:0002793	Abnormal pattern of respiration	57190	SELENON	OMIM:602771
HP:0002793	Abnormal pattern of respiration	57190	SELENON	ORPHA:324604
HP:0002793	Abnormal pattern of respiration	7169	TPM2	ORPHA:171436
HP:0002793	Abnormal pattern of respiration	10324	KLHL41	ORPHA:171436
HP:0002793	Abnormal pattern of respiration	56203	LMOD3	ORPHA:171436
HP:0002793	Abnormal pattern of respiration	1073	CFL2	ORPHA:171436
HP:0002793	Abnormal pattern of respiration	79147	FKRP	OMIM:607155
HP:0002793	Abnormal pattern of respiration	64116	SLC39A8	ORPHA:468699
HP:0002793	Abnormal pattern of respiration	10667	FARS2	ORPHA:466722
HP:0002793	Abnormal pattern of respiration	788	SLC25A20	ORPHA:159
HP:0002793	Abnormal pattern of respiration	25792	CIZ1	ORPHA:420492
HP:0002793	Abnormal pattern of respiration	6513	SLC2A1	ORPHA:64280
HP:0002793	Abnormal pattern of respiration	2562	GABRB3	ORPHA:64280
HP:0002793	Abnormal pattern of respiration	2554	GABRA1	ORPHA:64280
HP:0002793	Abnormal pattern of respiration	8912	CACNA1H	ORPHA:64280
HP:0002793	Abnormal pattern of respiration	8629	JRK	ORPHA:64280
HP:0002793	Abnormal pattern of respiration	2566	GABRG2	ORPHA:64280
HP:0002793	Abnormal pattern of respiration	26047	CNTNAP2	OMIM:610042
HP:0002793	Abnormal pattern of respiration	9378	NRXN1	OMIM:614325
HP:0002793	Abnormal pattern of respiration	11011	TLK2	OMIM:618050
HP:0002793	Abnormal pattern of respiration	1137	CHRNA4	ORPHA:98784
HP:0002793	Abnormal pattern of respiration	1135	CHRNA2	ORPHA:98784
HP:0002793	Abnormal pattern of respiration	57010	CABP4	ORPHA:98784
HP:0002793	Abnormal pattern of respiration	1141	CHRNB2	ORPHA:98784
HP:0002793	Abnormal pattern of respiration	57582	KCNT1	ORPHA:98784
HP:0002793	Abnormal pattern of respiration	1392	CRH	ORPHA:98784
HP:0002793	Abnormal pattern of respiration	9681	DEPDC5	ORPHA:98784
HP:0002793	Abnormal pattern of respiration	6857	SYT1	ORPHA:522077
HP:0002793	Abnormal pattern of respiration	7386	UQCRFS1	OMIM:618775
HP:0002793	Abnormal pattern of respiration	8573	CASK	OMIM:300749
HP:0002793	Abnormal pattern of respiration	2258	FGF13	OMIM:301058
HP:0002793	Abnormal pattern of respiration	112939	NACC1	ORPHA:500545
HP:0002793	Abnormal pattern of respiration	9200	HACD1	OMIM:619967
HP:0002793	Abnormal pattern of respiration	36	ACADSB	OMIM:610006
HP:0002793	Abnormal pattern of respiration	8398	PLA2G6	ORPHA:35069
HP:0002793	Abnormal pattern of respiration	3198	HOXA1	OMIM:601536
HP:0002793	Abnormal pattern of respiration	7170	TPM3	ORPHA:171881
HP:0002793	Abnormal pattern of respiration	5979	RET	ORPHA:99803
HP:0002793	Abnormal pattern of respiration	429	ASCL1	ORPHA:99803
HP:0002793	Abnormal pattern of respiration	2744	GLS	OMIM:618328
HP:0002793	Abnormal pattern of respiration	16	AARS1	OMIM:619661
HP:0002793	Abnormal pattern of respiration	84705	GTPBP3	ORPHA:444013
HP:0002793	Abnormal pattern of respiration	65055	REEP1	OMIM:620011
HP:0002793	Abnormal pattern of respiration	5910	RAP1GDS1	OMIM:620655
HP:0002793	Abnormal pattern of respiration	128240	NAXE	OMIM:617186
HP:0002793	Abnormal pattern of respiration	2263	FGFR2	OMIM:123790
HP:0002797	Osteolysis	1499	CTNNB1	ORPHA:873
HP:0002797	Osteolysis	324	APC	ORPHA:873
HP:0002797	Osteolysis	171023	ASXL1	ORPHA:98850
HP:0002797	Osteolysis	54790	TET2	ORPHA:98850
HP:0002797	Osteolysis	867	CBL	ORPHA:98850
HP:0002797	Osteolysis	861	RUNX1	ORPHA:98850
HP:0002797	Osteolysis	6427	SRSF2	ORPHA:98850
HP:0002797	Osteolysis	7421	VDR	ORPHA:93160
HP:0002797	Osteolysis	538	ATP7A	ORPHA:198
HP:0002797	Osteolysis	595	CCND1	ORPHA:29073
HP:0002797	Osteolysis	8518	ELP1	ORPHA:1764
HP:0002797	Osteolysis	285590	SH3PXD2B	ORPHA:137834
HP:0002797	Osteolysis	4000	LMNA	OMIM:176670
HP:0002797	Osteolysis	4000	LMNA	ORPHA:90153
HP:0002797	Osteolysis	9935	MAFB	ORPHA:2774
HP:0002797	Osteolysis	7157	TP53	ORPHA:668
HP:0002797	Osteolysis	5925	RB1	ORPHA:668
HP:0002797	Osteolysis	11200	CHEK2	ORPHA:668
HP:0002797	Osteolysis	8517	IKBKG	ORPHA:464
HP:0002797	Osteolysis	5604	MAP2K1	ORPHA:389
HP:0002797	Osteolysis	4893	NRAS	ORPHA:389
HP:0002797	Osteolysis	673	BRAF	ORPHA:389
HP:0002797	Osteolysis	4125	MAN2B1	ORPHA:309282
HP:0002797	Osteolysis	8792	TNFRSF11A	OMIM:174810
HP:0002797	Osteolysis	8792	TNFRSF11A	OMIM:602080
HP:0002797	Osteolysis	63916	ELMO2	ORPHA:3019
HP:0002797	Osteolysis	8878	SQSTM1	OMIM:167250
HP:0002797	Osteolysis	3557	IL1RN	OMIM:612852
HP:0002797	Osteolysis	51360	MBTPS2	ORPHA:659
HP:0002797	Osteolysis	162514	TRPV3	ORPHA:659
HP:0002797	Osteolysis	64065	PERP	ORPHA:659
HP:0002797	Osteolysis	10269	ZMPSTE24	ORPHA:90154
HP:0002797	Osteolysis	3178	HNRNPA1	ORPHA:52430
HP:0002797	Osteolysis	7415	VCP	ORPHA:52430
HP:0002797	Osteolysis	3181	HNRNPA2B1	ORPHA:52430
HP:0002797	Osteolysis	6335	SCN9A	ORPHA:970
HP:0002797	Osteolysis	65125	WNK1	ORPHA:970
HP:0002797	Osteolysis	54463	RETREG1	ORPHA:970
HP:0002797	Osteolysis	547	KIF1A	ORPHA:970
HP:0002797	Osteolysis	4221	MEN1	ORPHA:652
HP:0002797	Osteolysis	1027	CDKN1B	ORPHA:652
HP:0002797	Osteolysis	1026	CDKN1A	ORPHA:652
HP:0002797	Osteolysis	1030	CDKN2B	ORPHA:652
HP:0002797	Osteolysis	1031	CDKN2C	ORPHA:652
HP:0002797	Osteolysis	4854	NOTCH3	ORPHA:2591
HP:0002797	Osteolysis	5159	PDGFRB	ORPHA:2591
HP:0002797	Osteolysis	26137	ZBTB20	ORPHA:3042
HP:0002797	Osteolysis	5745	PTH1R	ORPHA:296
HP:0002797	Osteolysis	3418	IDH2	ORPHA:296
HP:0002797	Osteolysis	3418	IDH2	ORPHA:163634
HP:0002797	Osteolysis	3417	IDH1	ORPHA:296
HP:0002797	Osteolysis	3417	IDH1	ORPHA:163634
HP:0002797	Osteolysis	2706	GJB2	ORPHA:494
HP:0002797	Osteolysis	7390	UROS	OMIM:263700
HP:0002797	Osteolysis	7390	UROS	ORPHA:79277
HP:0002797	Osteolysis	8815	BANF1	OMIM:614008
HP:0002797	Osteolysis	2260	FGFR1	ORPHA:2396
HP:0002797	Osteolysis	3845	KRAS	ORPHA:2396
HP:0002797	Osteolysis	3248	HPGD	ORPHA:2796
HP:0002797	Osteolysis	6578	SLCO2A1	ORPHA:2796
HP:0002797	Osteolysis	79158	GNPTAB	ORPHA:423461
HP:0002797	Osteolysis	7389	UROD	ORPHA:95159
HP:0002797	Osteolysis	4313	MMP2	ORPHA:371428
HP:0002797	Osteolysis	4323	MMP14	ORPHA:371428
HP:0002797	Osteolysis	1281	COL3A1	ORPHA:286
HP:0002797	Osteolysis	2629	GBA1	ORPHA:77261
HP:0002797	Osteolysis	2629	GBA1	ORPHA:77259
HP:0002797	Osteolysis	9184	BUB3	ORPHA:1052
HP:0002797	Osteolysis	699	BUB1	ORPHA:1052
HP:0002797	Osteolysis	9702	CEP57	ORPHA:1052
HP:0002797	Osteolysis	9319	TRIP13	ORPHA:1052
HP:0002797	Osteolysis	701	BUB1B	ORPHA:1052
HP:0002797	Osteolysis	118429	ANTXR2	OMIM:228600
HP:0002797	Osteolysis	118429	ANTXR2	ORPHA:2028
HP:0002797	Osteolysis	55315	SLC29A3	ORPHA:168569
HP:0002797	Osteolysis	1235	CCR6	ORPHA:220393
HP:0002797	Osteolysis	1490	CCN2	ORPHA:220393
HP:0002797	Osteolysis	3663	IRF5	ORPHA:220393
HP:0002797	Osteolysis	857	CAV1	ORPHA:220393
HP:0002797	Osteolysis	3123	HLA-DRB1	ORPHA:220393
HP:0002797	Osteolysis	4853	NOTCH2	ORPHA:955
HP:0002797	Osteolysis	9487	PIGL	ORPHA:3474
HP:0002797	Osteolysis	2623	GATA1	ORPHA:79277
HP:0002797	Osteolysis	4763	NF1	ORPHA:97685
HP:0002797	Osteolysis	950	SCARB2	ORPHA:77259
HP:0002797	Osteolysis	1075	CTSC	ORPHA:678
HP:0002797	Osteolysis	427	ASAH1	OMIM:228000
HP:0002797	Osteolysis	2316	FLNA	ORPHA:88630
HP:0002797	Osteolysis	64135	IFIH1	OMIM:182250
HP:0002797	Osteolysis	10651	MTX2	OMIM:619127
HP:0002797	Osteolysis	4921	DDR2	OMIM:618175
HP:0002797	Osteolysis	23586	RIGI	OMIM:616298
HP:0002797	Osteolysis	25923	ATL3	OMIM:615632
HP:0002797	Osteolysis	1513	CTSK	ORPHA:763
HP:0002797	Osteolysis	1513	CTSK	OMIM:265800
HP:0009943	Complete duplication of thumb phalanx	8200	GDF5	ORPHA:93384
HP:0009943	Complete duplication of thumb phalanx	658	BMPR1B	ORPHA:93384
HP:0009943	Complete duplication of thumb phalanx	51715	RAB23	OMIM:201000
HP:0009943	Complete duplication of thumb phalanx	22856	CHSY1	ORPHA:363417
HP:0009943	Complete duplication of thumb phalanx	2177	FANCD2	OMIM:227646
HP:0009943	Complete duplication of thumb phalanx	2176	FANCC	OMIM:227645
HP:0009943	Complete duplication of thumb phalanx	2178	FANCE	OMIM:600901
HP:0009943	Complete duplication of thumb phalanx	157570	ESCO2	ORPHA:3103
HP:0009943	Complete duplication of thumb phalanx	6472	SHMT2	OMIM:619121
HP:0009943	Complete duplication of thumb phalanx	8260	NAA10	ORPHA:568
HP:0009943	Complete duplication of thumb phalanx	54880	BCOR	ORPHA:568
HP:0009943	Complete duplication of thumb phalanx	2175	FANCA	OMIM:227650
HP:0009777	Absent thumb	2188	FANCF	OMIM:603467
HP:0009777	Absent thumb	2177	FANCD2	OMIM:227646
HP:0009777	Absent thumb	2072	ERCC4	OMIM:615272
HP:0009777	Absent thumb	5889	RAD51C	OMIM:613390
HP:0009777	Absent thumb	2176	FANCC	OMIM:227645
HP:0009777	Absent thumb	10262	SF3B4	OMIM:154400
HP:0009777	Absent thumb	6910	TBX5	ORPHA:392
HP:0009777	Absent thumb	6910	TBX5	OMIM:142900
HP:0009777	Absent thumb	55120	FANCL	OMIM:614083
HP:0009777	Absent thumb	6651	SON	ORPHA:500150
HP:0009777	Absent thumb	340419	RSPO2	OMIM:618022
HP:0009777	Absent thumb	2187	FANCB	OMIM:300514
HP:0009777	Absent thumb	57167	SALL4	OMIM:147750
HP:0009777	Absent thumb	57167	SALL4	OMIM:607323
HP:0009777	Absent thumb	84464	SLX4	OMIM:613951
HP:0009777	Absent thumb	6154	RPL26	OMIM:614900
HP:0009777	Absent thumb	6154	RPL26	ORPHA:124
HP:0009777	Absent thumb	8452	CUL3	OMIM:619239
HP:0009777	Absent thumb	5718	PSMD12	OMIM:617516
HP:0009777	Absent thumb	9939	RBM8A	OMIM:274000
HP:0009777	Absent thumb	6223	RPS19	OMIM:105650
HP:0009777	Absent thumb	6223	RPS19	ORPHA:124
HP:0009777	Absent thumb	9896	FIG4	OMIM:216340
HP:0009777	Absent thumb	9896	FIG4	ORPHA:3472
HP:0009777	Absent thumb	157570	ESCO2	OMIM:268300
HP:0009777	Absent thumb	6138	RPL15	ORPHA:124
HP:0009777	Absent thumb	6224	RPS20	ORPHA:124
HP:0009777	Absent thumb	6165	RPL35A	ORPHA:124
HP:0009777	Absent thumb	6132	RPL8	ORPHA:124
HP:0009777	Absent thumb	6232	RPS27	ORPHA:124
HP:0009777	Absent thumb	55027	HEATR3	ORPHA:124
HP:0009777	Absent thumb	6160	RPL31	ORPHA:124
HP:0009777	Absent thumb	6201	RPS7	ORPHA:124
HP:0009777	Absent thumb	6155	RPL27	ORPHA:124
HP:0009777	Absent thumb	6234	RPS28	ORPHA:124
HP:0009777	Absent thumb	6135	RPL11	ORPHA:124
HP:0009777	Absent thumb	6229	RPS24	ORPHA:124
HP:0009777	Absent thumb	6125	RPL5	ORPHA:124
HP:0009777	Absent thumb	6204	RPS10	ORPHA:124
HP:0009777	Absent thumb	2623	GATA1	ORPHA:124
HP:0009777	Absent thumb	6133	RPL9	ORPHA:124
HP:0009777	Absent thumb	6231	RPS26	ORPHA:124
HP:0009777	Absent thumb	11224	RPL35	ORPHA:124
HP:0009777	Absent thumb	6218	RPS17	ORPHA:124
HP:0009777	Absent thumb	6210	RPS15A	ORPHA:124
HP:0009777	Absent thumb	90121	TSR2	ORPHA:124
HP:0009777	Absent thumb	6141	RPL18	ORPHA:124
HP:0009777	Absent thumb	6235	RPS29	ORPHA:124
HP:0009777	Absent thumb	51816	ADA2	ORPHA:124
HP:0009777	Absent thumb	9401	RECQL4	OMIM:218600
HP:0009777	Absent thumb	9401	RECQL4	OMIM:266280
HP:0009777	Absent thumb	55697	VAC14	ORPHA:3472
HP:0009777	Absent thumb	2178	FANCE	OMIM:600901
HP:0009777	Absent thumb	54101	RIPK4	OMIM:263650
HP:0009777	Absent thumb	54101	RIPK4	ORPHA:1234
HP:0009777	Absent thumb	55159	RFWD3	OMIM:617784
HP:0009777	Absent thumb	5888	RAD51	OMIM:617244
HP:0009777	Absent thumb	2175	FANCA	OMIM:227650
HP:0009777	Absent thumb	55215	FANCI	OMIM:609053
HP:0009777	Absent thumb	7516	XRCC2	OMIM:617247
HP:0009777	Absent thumb	2263	FGFR2	ORPHA:2363
HP:0009777	Absent thumb	2261	FGFR3	ORPHA:2363
HP:0009777	Absent thumb	2255	FGF10	ORPHA:2363
HP:0009777	Absent thumb	79728	PALB2	OMIM:610832
HP:0009777	Absent thumb	29980	DONSON	OMIM:251230
HP:0002803	Congenital contracture	63895	PIEZO2	OMIM:248700
HP:0002803	Congenital contracture	199857	ALG14	OMIM:619036
HP:0002803	Congenital contracture	29954	POMT2	OMIM:613150
HP:0002803	Congenital contracture	29954	POMT2	OMIM:236670
HP:0002803	Congenital contracture	4593	MUSK	OMIM:208150
HP:0002803	Congenital contracture	259232	NALCN	OMIM:616266
HP:0002803	Congenital contracture	777	CACNA1E	OMIM:618285
HP:0002803	Congenital contracture	56203	LMOD3	OMIM:616165
HP:0002803	Congenital contracture	100128927	ZBTB42	OMIM:616248
HP:0002803	Congenital contracture	283989	TSEN54	OMIM:277470
HP:0002803	Congenital contracture	283989	TSEN54	OMIM:225753
HP:0002803	Congenital contracture	57211	ADGRG6	OMIM:616503
HP:0002803	Congenital contracture	4703	NEB	OMIM:256030
HP:0002803	Congenital contracture	246329	STAC3	ORPHA:168572
HP:0002803	Congenital contracture	1303	COL12A1	ORPHA:536516
HP:0002803	Congenital contracture	4620	MYH2	OMIM:605637
HP:0002803	Congenital contracture	171023	ASXL1	ORPHA:97297
HP:0002803	Congenital contracture	9496	TBX4	ORPHA:261279
HP:0002803	Congenital contracture	8818	DPM2	OMIM:615042
HP:0002803	Congenital contracture	26053	AUTS2	ORPHA:352490
HP:0002803	Congenital contracture	57222	ERGIC1	OMIM:208100
HP:0002803	Congenital contracture	84340	GFM2	OMIM:618397
HP:0002803	Congenital contracture	1785	DNM2	OMIM:615368
HP:0002803	Congenital contracture	5081	PAX7	OMIM:618578
HP:0002803	Congenital contracture	7443	VRK1	OMIM:607596
HP:0002803	Congenital contracture	26153	KIF26A	OMIM:620156
HP:0002803	Congenital contracture	6263	RYR3	OMIM:620310
HP:0002803	Congenital contracture	2201	FBN2	ORPHA:115
HP:0002803	Congenital contracture	79147	FKRP	OMIM:236670
HP:0002803	Congenital contracture	2218	FKTN	OMIM:236670
HP:0002803	Congenital contracture	10585	POMT1	OMIM:236670
HP:0002803	Congenital contracture	9215	LARGE1	OMIM:236670
HP:0002803	Congenital contracture	1718	DHCR24	OMIM:602398
HP:0002803	Congenital contracture	1145	CHRNE	OMIM:608931
HP:0002803	Congenital contracture	2673	GFPT1	OMIM:608931
HP:0002803	Congenital contracture	3691	ITGB4	OMIM:226730
HP:0002803	Congenital contracture	5339	PLEC	OMIM:226730
HP:0002803	Congenital contracture	8506	CNTNAP1	OMIM:618186
HP:0002803	Congenital contracture	91754	NEK9	OMIM:614262
HP:0002803	Congenital contracture	5913	RAPSN	OMIM:616326
HP:0002803	Congenital contracture	5913	RAPSN	ORPHA:994
HP:0002803	Congenital contracture	2632	GBE1	OMIM:232500
HP:0002803	Congenital contracture	55627	SMPD4	OMIM:618622
HP:0002803	Congenital contracture	1134	CHRNA1	OMIM:608930
HP:0002803	Congenital contracture	2629	GBA1	OMIM:608013
HP:0002803	Congenital contracture	2629	GBA1	ORPHA:85212
HP:0002803	Congenital contracture	2629	GBA1	ORPHA:77260
HP:0002803	Congenital contracture	55593	OTUD5	OMIM:301056
HP:0002803	Congenital contracture	59341	TRPV4	OMIM:156530
HP:0002803	Congenital contracture	59341	TRPV4	OMIM:600175
HP:0002803	Congenital contracture	58	ACTA1	ORPHA:171436
HP:0002803	Congenital contracture	58	ACTA1	ORPHA:171433
HP:0002803	Congenital contracture	58	ACTA1	ORPHA:171430
HP:0002803	Congenital contracture	58	ACTA1	OMIM:161800
HP:0002803	Congenital contracture	58	ACTA1	ORPHA:171439
HP:0002803	Congenital contracture	7169	TPM2	ORPHA:171436
HP:0002803	Congenital contracture	7169	TPM2	OMIM:108120
HP:0002803	Congenital contracture	7169	TPM2	ORPHA:171439
HP:0002803	Congenital contracture	10324	KLHL41	ORPHA:171436
HP:0002803	Congenital contracture	10324	KLHL41	ORPHA:171433
HP:0002803	Congenital contracture	10324	KLHL41	ORPHA:171430
HP:0002803	Congenital contracture	10324	KLHL41	OMIM:615731
HP:0002803	Congenital contracture	10324	KLHL41	ORPHA:171439
HP:0002803	Congenital contracture	1073	CFL2	ORPHA:171436
HP:0002803	Congenital contracture	60482	SLC5A7	OMIM:617143
HP:0002803	Congenital contracture	60482	SLC5A7	ORPHA:98914
HP:0002803	Congenital contracture	2073	ERCC5	OMIM:616570
HP:0002803	Congenital contracture	2073	ERCC5	ORPHA:1466
HP:0002803	Congenital contracture	7170	TPM3	ORPHA:171433
HP:0002803	Congenital contracture	7170	TPM3	ORPHA:171439
HP:0002803	Congenital contracture	6536	SLC6A9	OMIM:617301
HP:0002803	Congenital contracture	131377	KLHL40	ORPHA:171430
HP:0002803	Congenital contracture	84162	BLTP1	OMIM:617822
HP:0002803	Congenital contracture	23729	SHPK	ORPHA:440713
HP:0002803	Congenital contracture	79158	GNPTAB	OMIM:252500
HP:0002803	Congenital contracture	3767	KCNJ11	ORPHA:99885
HP:0002803	Congenital contracture	6774	STAT3	ORPHA:99885
HP:0002803	Congenital contracture	2645	GCK	ORPHA:99885
HP:0002803	Congenital contracture	3651	PDX1	ORPHA:99885
HP:0002803	Congenital contracture	6833	ABCC8	ORPHA:99885
HP:0002803	Congenital contracture	3630	INS	ORPHA:99885
HP:0002803	Congenital contracture	2067	ERCC1	OMIM:610758
HP:0002803	Congenital contracture	2067	ERCC1	ORPHA:1466
HP:0002803	Congenital contracture	2733	GLE1	OMIM:253310
HP:0002803	Congenital contracture	2733	GLE1	OMIM:611890
HP:0002803	Congenital contracture	56975	FAM20C	OMIM:259775
HP:0002803	Congenital contracture	6904	TBCD	ORPHA:496641
HP:0002803	Congenital contracture	6904	TBCD	OMIM:617193
HP:0002803	Congenital contracture	1146	CHRNG	OMIM:265000
HP:0002803	Congenital contracture	1146	CHRNG	ORPHA:2990
HP:0002803	Congenital contracture	5980	REV3L	ORPHA:570
HP:0002803	Congenital contracture	23129	PLXND1	ORPHA:570
HP:0002803	Congenital contracture	63925	ZNF335	OMIM:615095
HP:0002803	Congenital contracture	55906	ZC4H2	OMIM:314580
HP:0002803	Congenital contracture	1020	CDK5	OMIM:616342
HP:0002803	Congenital contracture	23345	SYNE1	OMIM:618484
HP:0002803	Congenital contracture	23345	SYNE1	ORPHA:319332
HP:0002803	Congenital contracture	113189	CHST14	ORPHA:2953
HP:0002803	Congenital contracture	113189	CHST14	OMIM:601776
HP:0002803	Congenital contracture	29940	DSE	ORPHA:2953
HP:0002803	Congenital contracture	5119	CHMP1A	OMIM:614961
HP:0002803	Congenital contracture	91869	RFT1	ORPHA:244310
HP:0002803	Congenital contracture	2068	ERCC2	ORPHA:1466
HP:0002803	Congenital contracture	2074	ERCC6	ORPHA:1466
HP:0002803	Congenital contracture	2074	ERCC6	OMIM:214150
HP:0002803	Congenital contracture	9326	ZNHIT3	ORPHA:2836
HP:0002803	Congenital contracture	6663	SOX10	ORPHA:163746
HP:0002803	Congenital contracture	6663	SOX10	OMIM:609136
HP:0002803	Congenital contracture	55681	SCYL2	OMIM:618766
HP:0002803	Congenital contracture	51008	ASCC1	OMIM:616867
HP:0002803	Congenital contracture	9325	TRIP4	OMIM:616866
HP:0002803	Congenital contracture	7136	TNNI2	OMIM:601680
HP:0002803	Congenital contracture	26276	VPS33B	OMIM:208085
HP:0002803	Congenital contracture	57498	KIDINS220	OMIM:619501
HP:0002803	Congenital contracture	7317	UBA1	OMIM:301830
HP:0002803	Congenital contracture	7317	UBA1	ORPHA:1145
HP:0002803	Congenital contracture	4604	MYBPC1	OMIM:614335
HP:0002803	Congenital contracture	2783	GNB2	OMIM:619503
HP:0002803	Congenital contracture	63894	VIPAS39	OMIM:613404
HP:0002803	Congenital contracture	2065	ERBB3	OMIM:243180
HP:0002803	Congenital contracture	2065	ERBB3	OMIM:607598
HP:0002803	Congenital contracture	54551	MAGEL2	OMIM:615547
HP:0002803	Congenital contracture	54551	MAGEL2	ORPHA:994
HP:0002803	Congenital contracture	23265	EXOC7	OMIM:619072
HP:0002803	Congenital contracture	55605	KIF21A	ORPHA:994
HP:0002803	Congenital contracture	4927	NUP88	ORPHA:994
HP:0002803	Congenital contracture	4927	NUP88	OMIM:618393
HP:0002803	Congenital contracture	7846	TUBA1A	ORPHA:994
HP:0002803	Congenital contracture	4654	MYOD1	ORPHA:994
HP:0002803	Congenital contracture	6572	SLC18A3	ORPHA:994
HP:0002803	Congenital contracture	6572	SLC18A3	ORPHA:98914
HP:0002803	Congenital contracture	285489	DOK7	ORPHA:994
HP:0002803	Congenital contracture	1182	CLCN3	OMIM:619512
HP:0002803	Congenital contracture	94005	PIGS	OMIM:618143
HP:0002803	Congenital contracture	5530	PPP3CA	OMIM:618265
HP:0002803	Congenital contracture	1103	CHAT	OMIM:254210
HP:0002803	Congenital contracture	1103	CHAT	ORPHA:98914
HP:0002803	Congenital contracture	1861	TOR1A	OMIM:618947
HP:0002803	Congenital contracture	23443	SLC35A3	OMIM:615553
HP:0002803	Congenital contracture	11340	EXOSC8	ORPHA:2254
HP:0002803	Congenital contracture	5393	EXOSC9	ORPHA:2254
HP:0002803	Congenital contracture	23287	AGTPBP1	ORPHA:2254
HP:0002803	Congenital contracture	51010	EXOSC3	ORPHA:2254
HP:0002803	Congenital contracture	91137	SLC25A46	ORPHA:2254
HP:0002803	Congenital contracture	5352	PLOD2	ORPHA:2771
HP:0002803	Congenital contracture	60681	FKBP10	ORPHA:2771
HP:0002803	Congenital contracture	55165	CEP55	OMIM:236500
HP:0002803	Congenital contracture	3800	KIF5C	OMIM:615282
HP:0002803	Congenital contracture	5297	PI4KA	OMIM:616531
HP:0002803	Congenital contracture	23522	KAT6B	ORPHA:85201
HP:0002803	Congenital contracture	9928	KIF14	OMIM:616258
HP:0002803	Congenital contracture	163175	LGI4	OMIM:617468
HP:0002803	Congenital contracture	4649	MYO9A	ORPHA:98914
HP:0002803	Congenital contracture	1305	COL13A1	ORPHA:98914
HP:0002803	Congenital contracture	6576	SLC25A1	ORPHA:98914
HP:0002803	Congenital contracture	6843	VAMP1	ORPHA:98914
HP:0002803	Congenital contracture	375790	AGRN	ORPHA:98914
HP:0002803	Congenital contracture	127833	SYT2	ORPHA:98914
HP:0002803	Congenital contracture	6616	SNAP25	ORPHA:98914
HP:0002803	Congenital contracture	23396	PIP5K1C	OMIM:611369
HP:0002803	Congenital contracture	3911	LAMA5	OMIM:620076
HP:0002803	Congenital contracture	4626	MYH8	OMIM:158300
HP:0002803	Congenital contracture	4621	MYH3	OMIM:178110
HP:0002803	Congenital contracture	4621	MYH3	ORPHA:2990
HP:0002803	Congenital contracture	9319	TRIP13	OMIM:617598
HP:0002803	Congenital contracture	200205	IBA57	OMIM:615330
HP:0002803	Congenital contracture	4000	LMNA	ORPHA:1662
HP:0002803	Congenital contracture	10269	ZMPSTE24	ORPHA:1662
HP:0002803	Congenital contracture	84665	MYPN	ORPHA:171439
HP:0002803	Congenital contracture	390594	KBTBD13	ORPHA:171439
HP:0002803	Congenital contracture	10195	ALG3	ORPHA:79321
HP:0002803	Congenital contracture	10195	ALG3	OMIM:601110
HP:0002803	Congenital contracture	3339	HSPG2	ORPHA:800
HP:0002803	Congenital contracture	23299	BICD2	OMIM:618291
HP:0002803	Congenital contracture	91574	MTRFR	ORPHA:320375
HP:0002803	Congenital contracture	54101	RIPK4	OMIM:263650
HP:0002803	Congenital contracture	1291	COL6A1	OMIM:158810
HP:0002803	Congenital contracture	8216	LZTR1	OMIM:605275
HP:0002803	Congenital contracture	23389	MED13L	ORPHA:369891
HP:0002803	Congenital contracture	2737	GLI3	ORPHA:672
HP:0002803	Congenital contracture	7528	YY1	ORPHA:506358
HP:0002803	Congenital contracture	7528	YY1	OMIM:617557
HP:0002803	Congenital contracture	342035	GLDN	OMIM:617194
HP:0002803	Congenital contracture	34	ACADM	ORPHA:42
HP:0002803	Congenital contracture	57003	CCDC47	OMIM:618268
HP:0002803	Congenital contracture	112	ADCY6	OMIM:616287
HP:0002803	Congenital contracture	4897	NRCAM	OMIM:619833
HP:0002803	Congenital contracture	9289	ADGRG1	ORPHA:98889
HP:0002803	Congenital contracture	27286	SRPX2	ORPHA:98889
HP:0002803	Congenital contracture	51117	COQ4	OMIM:616276
HP:0002803	Congenital contracture	84896	ATAD1	OMIM:618011
HP:0002803	Congenital contracture	9896	FIG4	OMIM:611228
HP:0002803	Congenital contracture	65055	REEP1	OMIM:620011
HP:0002803	Congenital contracture	825	CAPN3	ORPHA:267
HP:0002803	Congenital contracture	10216	PRG4	OMIM:208250
HP:0002803	Congenital contracture	113179	ADAT3	ORPHA:363528
HP:0002803	Congenital contracture	7043	TGFB3	OMIM:615582
HP:0002803	Congenital contracture	51305	KCNK9	ORPHA:166108
HP:0002803	Congenital contracture	22880	MORC2	ORPHA:466768
HP:0002803	Congenital contracture	170689	ADAMTS15	OMIM:620545
HP:0002803	Congenital contracture	6329	SCN4A	OMIM:620351
HP:0002805	Accelerated bone age after puberty	7227	TRPS1	OMIM:190350
HP:0002805	Accelerated bone age after puberty	7227	TRPS1	OMIM:190351
HP:0002948	Vertebral fusion	4920	ROR2	OMIM:268310
HP:0002948	Vertebral fusion	4920	ROR2	OMIM:113000
HP:0002948	Vertebral fusion	6660	SOX5	ORPHA:313892
HP:0002948	Vertebral fusion	5727	PTCH1	ORPHA:377
HP:0002948	Vertebral fusion	5727	PTCH1	OMIM:109400
HP:0002948	Vertebral fusion	8643	PTCH2	ORPHA:377
HP:0002948	Vertebral fusion	51684	SUFU	ORPHA:377
HP:0002948	Vertebral fusion	4621	MYH3	OMIM:178110
HP:0002948	Vertebral fusion	2239	GPC4	ORPHA:373
HP:0002948	Vertebral fusion	2719	GPC3	ORPHA:373
HP:0002948	Vertebral fusion	79147	FKRP	OMIM:606612
HP:0002948	Vertebral fusion	79147	FKRP	OMIM:607155
HP:0002948	Vertebral fusion	2335	FN1	ORPHA:93315
HP:0002948	Vertebral fusion	1280	COL2A1	ORPHA:93315
HP:0002948	Vertebral fusion	29123	ANKRD11	ORPHA:2332
HP:0002948	Vertebral fusion	29123	ANKRD11	OMIM:148050
HP:0002948	Vertebral fusion	284058	KANSL1	OMIM:610443
HP:0002948	Vertebral fusion	55191	NADSYN1	OMIM:618845
HP:0002948	Vertebral fusion	3081	HGD	OMIM:203500
HP:0002948	Vertebral fusion	54499	TMCO1	OMIM:213980
HP:0002948	Vertebral fusion	2317	FLNB	OMIM:272460
HP:0002948	Vertebral fusion	2317	FLNB	OMIM:150250
HP:0002948	Vertebral fusion	4089	SMAD4	OMIM:139210
HP:0002948	Vertebral fusion	4854	NOTCH3	OMIM:130720
HP:0002948	Vertebral fusion	22827	PUF60	OMIM:615583
HP:0002948	Vertebral fusion	84667	HES7	OMIM:613686
HP:0002948	Vertebral fusion	57167	SALL4	ORPHA:959
HP:0002948	Vertebral fusion	1134	CHRNA1	OMIM:253290
HP:0002948	Vertebral fusion	1146	CHRNG	OMIM:253290
HP:0002948	Vertebral fusion	1144	CHRND	OMIM:253290
HP:0002948	Vertebral fusion	8200	GDF5	OMIM:610017
HP:0002948	Vertebral fusion	7468	NSD2	OMIM:194190
HP:0002948	Vertebral fusion	10815	CPLX1	OMIM:194190
HP:0002948	Vertebral fusion	1487	CTBP1	OMIM:194190
HP:0002948	Vertebral fusion	53834	FGFRL1	OMIM:194190
HP:0002948	Vertebral fusion	3954	LETM1	OMIM:194190
HP:0002948	Vertebral fusion	4990	SIX6	OMIM:206900
HP:0002948	Vertebral fusion	6657	SOX2	OMIM:206900
HP:0002948	Vertebral fusion	6911	TBX6	OMIM:122600
HP:0002948	Vertebral fusion	145873	MESP2	OMIM:277300
HP:0002948	Vertebral fusion	10683	DLL3	OMIM:277300
HP:0002948	Vertebral fusion	5888	RAD51	ORPHA:238722
HP:0002948	Vertebral fusion	10126	DNAL4	ORPHA:238722
HP:0002948	Vertebral fusion	9423	NTN1	ORPHA:238722
HP:0002948	Vertebral fusion	1630	DCC	ORPHA:238722
HP:0002948	Vertebral fusion	2316	FLNA	OMIM:305620
HP:0002948	Vertebral fusion	2316	FLNA	ORPHA:1826
HP:0002948	Vertebral fusion	5167	ENPP1	ORPHA:51608
HP:0002948	Vertebral fusion	368	ABCC6	ORPHA:51608
HP:0002948	Vertebral fusion	22943	DKK1	ORPHA:268882
HP:0002948	Vertebral fusion	6885	MAP3K7	OMIM:617137
HP:0002948	Vertebral fusion	6885	MAP3K7	ORPHA:1826
HP:0002948	Vertebral fusion	6885	MAP3K7	OMIM:157800
HP:0002948	Vertebral fusion	1108	CHD4	OMIM:617159
HP:0002948	Vertebral fusion	9939	RBM8A	ORPHA:3320
HP:0002948	Vertebral fusion	9939	RBM8A	OMIM:274000
HP:0002948	Vertebral fusion	9241	NOG	OMIM:184460
HP:0002948	Vertebral fusion	55215	FANCI	OMIM:609053
HP:0002948	Vertebral fusion	3557	IL1RN	OMIM:612852
HP:0002948	Vertebral fusion	51729	WBP11	OMIM:619227
HP:0002948	Vertebral fusion	4222	MEOX1	OMIM:214300
HP:0002948	Vertebral fusion	90	ACVR1	ORPHA:337
HP:0002948	Vertebral fusion	7547	ZIC3	OMIM:306955
HP:0002948	Vertebral fusion	10992	SF3B2	OMIM:164210
HP:0002948	Vertebral fusion	55252	ASXL2	OMIM:617190
HP:0002948	Vertebral fusion	6910	TBX5	OMIM:142900
HP:0002948	Vertebral fusion	27125	AFF4	ORPHA:444077
HP:0002948	Vertebral fusion	27125	AFF4	OMIM:616368
HP:0002948	Vertebral fusion	55870	ASH1L	OMIM:617796
HP:0002948	Vertebral fusion	7862	BRPF1	OMIM:617333
HP:0002948	Vertebral fusion	165	AEBP1	OMIM:618000
HP:0002948	Vertebral fusion	84700	MYO18B	OMIM:616549
HP:0002948	Vertebral fusion	1009	CDH11	OMIM:211380
HP:0002948	Vertebral fusion	2263	FGFR2	ORPHA:87
HP:0002948	Vertebral fusion	2263	FGFR2	OMIM:101200
HP:0002948	Vertebral fusion	9935	MAFB	ORPHA:233
HP:0002948	Vertebral fusion	1123	CHN1	ORPHA:233
HP:0002948	Vertebral fusion	9573	GDF3	ORPHA:2345
HP:0002948	Vertebral fusion	392255	GDF6	ORPHA:2345
HP:0002948	Vertebral fusion	392255	GDF6	OMIM:118100
HP:0002948	Vertebral fusion	168667	BMPER	ORPHA:66637
HP:0002948	Vertebral fusion	2245	FGD1	ORPHA:915
HP:0002948	Vertebral fusion	81839	VANGL1	ORPHA:3027
HP:0002948	Vertebral fusion	80199	FUZ	ORPHA:3027
HP:0002948	Vertebral fusion	5352	PLOD2	OMIM:609220
HP:0002810	Dumbbell-shaped metaphyses	59341	TRPV4	OMIM:156530
HP:0002812	Coxa vara	1280	COL2A1	OMIM:184255
HP:0002812	Coxa vara	1280	COL2A1	OMIM:184250
HP:0002812	Coxa vara	1280	COL2A1	ORPHA:93315
HP:0002812	Coxa vara	1280	COL2A1	ORPHA:93316
HP:0002812	Coxa vara	1280	COL2A1	OMIM:609162
HP:0002812	Coxa vara	1280	COL2A1	OMIM:156550
HP:0002812	Coxa vara	1280	COL2A1	OMIM:183900
HP:0002812	Coxa vara	2335	FN1	OMIM:184255
HP:0002812	Coxa vara	2335	FN1	ORPHA:93315
HP:0002812	Coxa vara	4322	MMP13	OMIM:602111
HP:0002812	Coxa vara	59341	TRPV4	OMIM:184252
HP:0002812	Coxa vara	59341	TRPV4	ORPHA:93314
HP:0002812	Coxa vara	6399	TRAPPC2	ORPHA:93284
HP:0002812	Coxa vara	6399	TRAPPC2	OMIM:313400
HP:0002812	Coxa vara	65992	DDRGK1	OMIM:602557
HP:0002812	Coxa vara	538	ATP7A	ORPHA:198
HP:0002812	Coxa vara	9131	AIFM1	OMIM:300232
HP:0002812	Coxa vara	2131	EXT1	OMIM:133700
HP:0002812	Coxa vara	1300	COL10A1	OMIM:156500
HP:0002812	Coxa vara	1300	COL10A1	ORPHA:174
HP:0002812	Coxa vara	2132	EXT2	OMIM:133701
HP:0002812	Coxa vara	85301	COL27A1	OMIM:615155
HP:0002812	Coxa vara	579	NKX3-2	OMIM:613330
HP:0002812	Coxa vara	8838	CCN6	OMIM:208230
HP:0002812	Coxa vara	8838	CCN6	ORPHA:1159
HP:0002812	Coxa vara	1857	DVL3	ORPHA:3107
HP:0002812	Coxa vara	7474	WNT5A	ORPHA:3107
HP:0002812	Coxa vara	1855	DVL1	ORPHA:3107
HP:0002812	Coxa vara	2535	FZD2	ORPHA:3107
HP:0002812	Coxa vara	10312	TCIRG1	OMIM:259700
HP:0002812	Coxa vara	6023	RMRP	OMIM:250250
HP:0002812	Coxa vara	57282	SLC4A10	OMIM:620746
HP:0002812	Coxa vara	5885	RAD21	OMIM:614701
HP:0002812	Coxa vara	755	CFAP410	OMIM:602271
HP:0002812	Coxa vara	81031	SLC2A10	ORPHA:3342
HP:0002812	Coxa vara	4796	TONSL	ORPHA:93357
HP:0002812	Coxa vara	4796	TONSL	OMIM:271510
HP:0002812	Coxa vara	5130	PCYT1A	ORPHA:85167
HP:0002812	Coxa vara	5130	PCYT1A	OMIM:608940
HP:0002812	Coxa vara	6729	SRP54	OMIM:260400
HP:0002812	Coxa vara	51119	SBDS	OMIM:260400
HP:0002812	Coxa vara	134218	DNAJC21	OMIM:260400
HP:0002812	Coxa vara	5176	SERPINF1	OMIM:613982
HP:0002812	Coxa vara	1836	SLC26A2	ORPHA:93307
HP:0002812	Coxa vara	2137	EXTL3	OMIM:617425
HP:0002812	Coxa vara	10216	PRG4	ORPHA:2848
HP:0002812	Coxa vara	10216	PRG4	OMIM:208250
HP:0002812	Coxa vara	1311	COMP	ORPHA:93308
HP:0002812	Coxa vara	60681	FKBP10	OMIM:259450
HP:0002812	Coxa vara	60681	FKBP10	OMIM:610968
HP:0002812	Coxa vara	124583	CANT1	OMIM:251450
HP:0002812	Coxa vara	124583	CANT1	ORPHA:1425
HP:0002812	Coxa vara	4148	MATN3	OMIM:607078
HP:0002812	Coxa vara	1297	COL9A1	ORPHA:166002
HP:0002812	Coxa vara	1297	COL9A1	OMIM:614134
HP:0002812	Coxa vara	1298	COL9A2	ORPHA:166002
HP:0002812	Coxa vara	1299	COL9A3	ORPHA:166002
HP:0002812	Coxa vara	4784	NFIX	OMIM:602535
HP:0002812	Coxa vara	10940	POP1	OMIM:617396
HP:0002812	Coxa vara	3549	IHH	ORPHA:63446
HP:0002812	Coxa vara	3549	IHH	OMIM:607778
HP:0002812	Coxa vara	11014	KDELR2	OMIM:619131
HP:0002812	Coxa vara	1758	DMP1	ORPHA:289176
HP:0002812	Coxa vara	5167	ENPP1	ORPHA:289176
HP:0002812	Coxa vara	89970	RSPRY1	ORPHA:457395
HP:0002812	Coxa vara	23545	ATP6V0A2	ORPHA:2834
HP:0002812	Coxa vara	23545	ATP6V0A2	OMIM:278250
HP:0002812	Coxa vara	10491	CRTAP	OMIM:610682
HP:0002812	Coxa vara	55325	UFSP2	ORPHA:2114
HP:0002812	Coxa vara	5116	PCNT	ORPHA:2637
HP:0002812	Coxa vara	5116	PCNT	OMIM:210720
HP:0002812	Coxa vara	6137	RPL13	OMIM:618728
HP:0002812	Coxa vara	9496	TBX4	OMIM:147891
HP:0002812	Coxa vara	9675	TTI1	OMIM:620445
HP:0002812	Coxa vara	3339	HSPG2	OMIM:255800
HP:0002812	Coxa vara	3339	HSPG2	ORPHA:800
HP:0002812	Coxa vara	2317	FLNB	OMIM:272460
HP:0002812	Coxa vara	100151683	RNU4ATAC	ORPHA:1824
HP:0002812	Coxa vara	9719	ADAMTSL2	ORPHA:1901
HP:0002812	Coxa vara	9509	ADAMTS2	ORPHA:1901
HP:0002812	Coxa vara	64131	XYLT1	ORPHA:1425
HP:0002812	Coxa vara	55790	CSGALNACT1	ORPHA:1425
HP:0002812	Coxa vara	860	RUNX2	OMIM:119600
HP:0002812	Coxa vara	860	RUNX2	ORPHA:1452
HP:0002812	Coxa vara	1954	MEGF8	OMIM:614976
HP:0002812	Coxa vara	5830	PEX5	OMIM:616716
HP:0002812	Coxa vara	23594	ORC6	OMIM:613803
HP:0002812	Coxa vara	1278	COL1A2	ORPHA:1899
HP:0002812	Coxa vara	1277	COL1A1	ORPHA:1899
HP:0002812	Coxa vara	54808	DYM	ORPHA:239
HP:0002813	Abnormal limb bone morphology	5573	PRKAR1A	ORPHA:950
HP:0002813	Abnormal limb bone morphology	5144	PDE4D	ORPHA:950
HP:0002813	Abnormal limb bone morphology	6023	RMRP	ORPHA:175
HP:0002813	Abnormal limb bone morphology	6197	RPS6KA3	ORPHA:192
HP:0002813	Abnormal limb bone morphology	118429	ANTXR2	ORPHA:2028
HP:0002813	Abnormal limb bone morphology	652	BMP4	ORPHA:828
HP:0002813	Abnormal limb bone morphology	1301	COL11A1	ORPHA:2021
HP:0002813	Abnormal limb bone morphology	1302	COL11A2	ORPHA:2021
HP:0002813	Abnormal limb bone morphology	3425	IDUA	ORPHA:93473
HP:0002813	Abnormal limb bone morphology	57539	WDR35	ORPHA:1515
HP:0002813	Abnormal limb bone morphology	112752	IFT43	ORPHA:1515
HP:0002813	Abnormal limb bone morphology	51098	IFT52	ORPHA:1515
HP:0002813	Abnormal limb bone morphology	55764	IFT122	ORPHA:1515
HP:0002813	Abnormal limb bone morphology	57728	WDR19	ORPHA:1515
HP:0002813	Abnormal limb bone morphology	7040	TGFB1	ORPHA:1328
HP:0002813	Abnormal limb bone morphology	2697	GJA1	ORPHA:2710
HP:0002813	Abnormal limb bone morphology	6885	MAP3K7	ORPHA:1826
HP:0002813	Abnormal limb bone morphology	9851	KIAA0753	ORPHA:474
HP:0002813	Abnormal limb bone morphology	55112	DYNC2I1	ORPHA:474
HP:0002813	Abnormal limb bone morphology	55112	DYNC2I1	ORPHA:93271
HP:0002813	Abnormal limb bone morphology	26160	IFT172	ORPHA:474
HP:0002813	Abnormal limb bone morphology	153241	CEP120	ORPHA:474
HP:0002813	Abnormal limb bone morphology	57560	IFT80	ORPHA:474
HP:0002813	Abnormal limb bone morphology	57560	IFT80	ORPHA:93271
HP:0002813	Abnormal limb bone morphology	51626	DYNC2LI1	ORPHA:474
HP:0002813	Abnormal limb bone morphology	79659	DYNC2H1	ORPHA:474
HP:0002813	Abnormal limb bone morphology	79659	DYNC2H1	ORPHA:93271
HP:0002813	Abnormal limb bone morphology	9742	IFT140	ORPHA:474
HP:0002813	Abnormal limb bone morphology	89891	DYNC2I2	ORPHA:474
HP:0002813	Abnormal limb bone morphology	89891	DYNC2I2	ORPHA:93271
HP:0002813	Abnormal limb bone morphology	79809	TTC21B	ORPHA:474
HP:0002813	Abnormal limb bone morphology	9321	TRIP11	ORPHA:166272
HP:0002813	Abnormal limb bone morphology	7421	VDR	ORPHA:93160
HP:0002813	Abnormal limb bone morphology	4318	MMP9	ORPHA:1040
HP:0002813	Abnormal limb bone morphology	4322	MMP13	ORPHA:1040
HP:0002813	Abnormal limb bone morphology	4322	MMP13	ORPHA:2501
HP:0002813	Abnormal limb bone morphology	10491	CRTAP	ORPHA:2050
HP:0002813	Abnormal limb bone morphology	9871	SEC24D	ORPHA:2050
HP:0002813	Abnormal limb bone morphology	5034	P4HB	ORPHA:2050
HP:0002813	Abnormal limb bone morphology	56172	ANKH	ORPHA:1522
HP:0002813	Abnormal limb bone morphology	9791	PTDSS1	ORPHA:2658
HP:0002813	Abnormal limb bone morphology	5781	PTPN11	ORPHA:2499
HP:0002813	Abnormal limb bone morphology	1280	COL2A1	ORPHA:93316
HP:0002813	Abnormal limb bone morphology	9820	CUL7	ORPHA:2616
HP:0002813	Abnormal limb bone morphology	23363	OBSL1	ORPHA:2616
HP:0002813	Abnormal limb bone morphology	83987	CCDC8	ORPHA:2616
HP:0002813	Abnormal limb bone morphology	3636	INPPL1	ORPHA:3144
HP:0002813	Abnormal limb bone morphology	3636	INPPL1	ORPHA:2746
HP:0002813	Abnormal limb bone morphology	23169	SLC35D1	ORPHA:3144
HP:0002813	Abnormal limb bone morphology	2261	FGFR3	ORPHA:93274
HP:0002813	Abnormal limb bone morphology	2261	FGFR3	ORPHA:429
HP:0002813	Abnormal limb bone morphology	2261	FGFR3	ORPHA:1860
HP:0002813	Abnormal limb bone morphology	55636	CHD7	ORPHA:39041
HP:0002813	Abnormal limb bone morphology	3981	LIG4	ORPHA:39041
HP:0002813	Abnormal limb bone morphology	5896	RAG1	ORPHA:39041
HP:0002813	Abnormal limb bone morphology	5897	RAG2	ORPHA:39041
HP:0002813	Abnormal limb bone morphology	64421	DCLRE1C	ORPHA:39041
HP:0002813	Abnormal limb bone morphology	100	ADA	ORPHA:39041
HP:0002813	Abnormal limb bone morphology	3575	IL7R	ORPHA:39041
HP:0002813	Abnormal limb bone morphology	3561	IL2RG	ORPHA:39041
HP:0002813	Abnormal limb bone morphology	1836	SLC26A2	ORPHA:628
HP:0002813	Abnormal limb bone morphology	6916	TBXAS1	ORPHA:1802
HP:0002813	Abnormal limb bone morphology	90459	ERI1	OMIM:620662
HP:0002813	Abnormal limb bone morphology	7157	TP53	ORPHA:668
HP:0002813	Abnormal limb bone morphology	5925	RB1	ORPHA:668
HP:0002813	Abnormal limb bone morphology	11200	CHEK2	ORPHA:668
HP:0002813	Abnormal limb bone morphology	10312	TCIRG1	ORPHA:667
HP:0002813	Abnormal limb bone morphology	10312	TCIRG1	ORPHA:1782
HP:0002813	Abnormal limb bone morphology	1186	CLCN7	ORPHA:667
HP:0002813	Abnormal limb bone morphology	1186	CLCN7	ORPHA:53
HP:0002813	Abnormal limb bone morphology	29887	SNX10	ORPHA:667
HP:0002813	Abnormal limb bone morphology	8600	TNFSF11	ORPHA:667
HP:0002813	Abnormal limb bone morphology	23630	KCNE5	ORPHA:86818
HP:0002813	Abnormal limb bone morphology	2182	ACSL4	ORPHA:86818
HP:0002813	Abnormal limb bone morphology	9949	AMMECR1	ORPHA:86818
HP:0002813	Abnormal limb bone morphology	59341	TRPV4	ORPHA:93304
HP:0002813	Abnormal limb bone morphology	59341	TRPV4	ORPHA:2635
HP:0002813	Abnormal limb bone morphology	2316	FLNA	ORPHA:2484
HP:0002813	Abnormal limb bone morphology	55503	TRPV6	ORPHA:417
HP:0002813	Abnormal limb bone morphology	846	CASR	ORPHA:417
HP:0002813	Abnormal limb bone morphology	3764	KCNJ8	ORPHA:1517
HP:0002813	Abnormal limb bone morphology	10060	ABCC9	ORPHA:1517
HP:0002813	Abnormal limb bone morphology	4952	OCRL	ORPHA:534
HP:0002813	Abnormal limb bone morphology	64327	LMBR1	ORPHA:931
HP:0002813	Abnormal limb bone morphology	4854	NOTCH3	ORPHA:2591
HP:0002813	Abnormal limb bone morphology	5159	PDGFRB	ORPHA:2591
HP:0002813	Abnormal limb bone morphology	5745	PTH1R	ORPHA:296
HP:0002813	Abnormal limb bone morphology	3418	IDH2	ORPHA:296
HP:0002813	Abnormal limb bone morphology	3417	IDH1	ORPHA:296
HP:0002813	Abnormal limb bone morphology	3977	LIFR	ORPHA:3206
HP:0002813	Abnormal limb bone morphology	100151683	RNU4ATAC	ORPHA:2636
HP:0002813	Abnormal limb bone morphology	5116	PCNT	ORPHA:2637
HP:0002813	Abnormal limb bone morphology	55315	SLC29A3	ORPHA:1782
HP:0002813	Abnormal limb bone morphology	8792	TNFRSF11A	ORPHA:1782
HP:0002813	Abnormal limb bone morphology	64131	XYLT1	ORPHA:1425
HP:0002813	Abnormal limb bone morphology	124583	CANT1	ORPHA:1425
HP:0002813	Abnormal limb bone morphology	55790	CSGALNACT1	ORPHA:1425
HP:0002813	Abnormal limb bone morphology	3339	HSPG2	ORPHA:800
HP:0002813	Abnormal limb bone morphology	64324	NSD1	ORPHA:3447
HP:0002813	Abnormal limb bone morphology	23512	SUZ12	ORPHA:3447
HP:0002813	Abnormal limb bone morphology	2146	EZH2	ORPHA:3447
HP:0002813	Abnormal limb bone morphology	538	ATP7A	ORPHA:565
HP:0002813	Abnormal limb bone morphology	6473	SHOX	ORPHA:240
HP:0002813	Abnormal limb bone morphology	91252	SLC39A13	ORPHA:157965
HP:0002813	Abnormal limb bone morphology	10082	GPC6	ORPHA:93329
HP:0002813	Abnormal limb bone morphology	84168	ANTXR1	ORPHA:2067
HP:0002813	Abnormal limb bone morphology	2200	FBN1	ORPHA:2462
HP:0002813	Abnormal limb bone morphology	6497	SKI	ORPHA:2462
HP:0002813	Abnormal limb bone morphology	139285	AMER1	ORPHA:2780
HP:0002813	Abnormal limb bone morphology	4089	SMAD4	ORPHA:2588
HP:0002813	Abnormal limb bone morphology	5238	PGM3	ORPHA:443811
HP:0002813	Abnormal limb bone morphology	55733	HHAT	OMIM:600092
HP:0002813	Abnormal limb bone morphology	114803	MYSM1	ORPHA:508542
HP:0002813	Abnormal limb bone morphology	149775	GNAS-AS1	OMIM:603233
HP:0002813	Abnormal limb bone morphology	10026	PIGK	OMIM:618879
HP:0002813	Abnormal limb bone morphology	1513	CTSK	OMIM:265800
HP:0002813	Abnormal limb bone morphology	1513	CTSK	ORPHA:763
HP:0002813	Abnormal limb bone morphology	818	CAMK2G	OMIM:618522
HP:0002813	Abnormal limb bone morphology	54453	RIN2	OMIM:613075
HP:0002813	Abnormal limb bone morphology	54453	RIN2	ORPHA:217335
HP:0002813	Abnormal limb bone morphology	170691	ADAMTS17	OMIM:613195
HP:0002813	Abnormal limb bone morphology	170691	ADAMTS17	ORPHA:3449
HP:0002813	Abnormal limb bone morphology	8036	SHOC2	ORPHA:2701
HP:0002813	Abnormal limb bone morphology	5500	PPP1CB	ORPHA:2701
HP:0002813	Abnormal limb bone morphology	9935	MAFB	ORPHA:233
HP:0002813	Abnormal limb bone morphology	1123	CHN1	ORPHA:233
HP:0002813	Abnormal limb bone morphology	8493	PPM1D	OMIM:617450
HP:0002813	Abnormal limb bone morphology	56006	SMG9	OMIM:619995
HP:0002813	Abnormal limb bone morphology	27125	AFF4	OMIM:616368
HP:0002813	Abnormal limb bone morphology	27125	AFF4	ORPHA:444077
HP:0002813	Abnormal limb bone morphology	4247	MGAT2	ORPHA:79329
HP:0002813	Abnormal limb bone morphology	54928	BPNT2	OMIM:614078
HP:0002813	Abnormal limb bone morphology	4488	MSX2	OMIM:604757
HP:0002813	Abnormal limb bone morphology	8643	PTCH2	ORPHA:377
HP:0002813	Abnormal limb bone morphology	23219	FBXO28	OMIM:619777
HP:0002813	Abnormal limb bone morphology	51322	WAC	ORPHA:466950
HP:0002813	Abnormal limb bone morphology	29929	ALG6	ORPHA:79320
HP:0002813	Abnormal limb bone morphology	79053	ALG8	ORPHA:79325
HP:0002813	Abnormal limb bone morphology	5575	PRKAR1B	OMIM:619680
HP:0002813	Abnormal limb bone morphology	51114	ZDHHC9	ORPHA:776
HP:0002813	Abnormal limb bone morphology	65109	UPF3B	ORPHA:776
HP:0002813	Abnormal limb bone morphology	79068	FTO	OMIM:612938
HP:0002813	Abnormal limb bone morphology	51132	RLIM	OMIM:300978
HP:0002813	Abnormal limb bone morphology	1621	DBH	OMIM:223360
HP:0002813	Abnormal limb bone morphology	54496	PRMT7	OMIM:617157
HP:0002813	Abnormal limb bone morphology	54496	PRMT7	ORPHA:464288
HP:0002813	Abnormal limb bone morphology	10483	SEC23B	ORPHA:201
HP:0002813	Abnormal limb bone morphology	6390	SDHB	ORPHA:201
HP:0002813	Abnormal limb bone morphology	6392	SDHD	ORPHA:201
HP:0002813	Abnormal limb bone morphology	6391	SDHC	ORPHA:201
HP:0002813	Abnormal limb bone morphology	205717	USF3	ORPHA:201
HP:0002813	Abnormal limb bone morphology	100144748	KLLN	ORPHA:201
HP:0002813	Abnormal limb bone morphology	10297	APC2	OMIM:617169
HP:0002813	Abnormal limb bone morphology	7403	KDM6A	OMIM:300867
HP:0002813	Abnormal limb bone morphology	7403	KDM6A	OMIM:147920
HP:0002813	Abnormal limb bone morphology	7403	KDM6A	ORPHA:2322
HP:0002813	Abnormal limb bone morphology	2707	GJB3	ORPHA:317
HP:0002813	Abnormal limb bone morphology	2531	KDSR	ORPHA:317
HP:0002813	Abnormal limb bone morphology	127534	GJB4	ORPHA:317
HP:0002813	Abnormal limb bone morphology	50801	KCNK4	OMIM:618381
HP:0002813	Abnormal limb bone morphology	5530	PPP3CA	OMIM:618265
HP:0002813	Abnormal limb bone morphology	8720	MBTPS1	OMIM:618392
HP:0002813	Abnormal limb bone morphology	1457	CSNK2A1	OMIM:617062
HP:0002813	Abnormal limb bone morphology	2077	ERF	OMIM:617180
HP:0002813	Abnormal limb bone morphology	90416	CCDC32	OMIM:619123
HP:0002813	Abnormal limb bone morphology	55717	WDR11	OMIM:620237
HP:0002813	Abnormal limb bone morphology	3549	IHH	OMIM:112500
HP:0002813	Abnormal limb bone morphology	3549	IHH	OMIM:607778
HP:0002813	Abnormal limb bone morphology	57152	SLURP1	OMIM:248300
HP:0002813	Abnormal limb bone morphology	89970	RSPRY1	ORPHA:457395
HP:0002813	Abnormal limb bone morphology	22800	RRAS2	ORPHA:648
HP:0002813	Abnormal limb bone morphology	8216	LZTR1	ORPHA:648
HP:0002813	Abnormal limb bone morphology	6016	RIT1	ORPHA:648
HP:0002813	Abnormal limb bone morphology	6237	RRAS	ORPHA:648
HP:0002813	Abnormal limb bone morphology	5894	RAF1	ORPHA:648
HP:0002813	Abnormal limb bone morphology	22808	MRAS	ORPHA:648
HP:0002813	Abnormal limb bone morphology	6654	SOS1	ORPHA:648
HP:0002813	Abnormal limb bone morphology	6655	SOS2	ORPHA:648
HP:0002813	Abnormal limb bone morphology	5922	RASA2	ORPHA:648
HP:0002813	Abnormal limb bone morphology	11011	TLK2	OMIM:618050
HP:0002813	Abnormal limb bone morphology	51109	RDH11	ORPHA:436245
HP:0002813	Abnormal limb bone morphology	4053	LTBP2	OMIM:614819
HP:0002813	Abnormal limb bone morphology	4053	LTBP2	ORPHA:3449
HP:0002813	Abnormal limb bone morphology	2690	GHR	ORPHA:633
HP:0002813	Abnormal limb bone morphology	3209	HOXA13	OMIM:140000
HP:0002813	Abnormal limb bone morphology	26153	KIF26A	OMIM:620156
HP:0002813	Abnormal limb bone morphology	23522	KAT6B	OMIM:606170
HP:0002813	Abnormal limb bone morphology	222663	SCUBE3	OMIM:619184
HP:0002813	Abnormal limb bone morphology	79813	EHMT1	OMIM:610253
HP:0002813	Abnormal limb bone morphology	51021	MRPS16	OMIM:610498
HP:0002813	Abnormal limb bone morphology	2254	FGF9	ORPHA:3237
HP:0002813	Abnormal limb bone morphology	1802	DPH2	OMIM:620062
HP:0002813	Abnormal limb bone morphology	55343	SLC35C1	OMIM:266265
HP:0002813	Abnormal limb bone morphology	10236	HNRNPR	OMIM:620073
HP:0002813	Abnormal limb bone morphology	5139	PDE3A	ORPHA:1276
HP:0002813	Abnormal limb bone morphology	2703	GJA8	OMIM:612474
HP:0002813	Abnormal limb bone morphology	2702	GJA5	OMIM:612474
HP:0002813	Abnormal limb bone morphology	2702	GJA5	ORPHA:3303
HP:0002813	Abnormal limb bone morphology	6938	TCF12	ORPHA:35099
HP:0002813	Abnormal limb bone morphology	6938	TCF12	OMIM:615314
HP:0002813	Abnormal limb bone morphology	7545	ZIC1	ORPHA:35099
HP:0002813	Abnormal limb bone morphology	51621	KLF13	OMIM:612001
HP:0002813	Abnormal limb bone morphology	1139	CHRNA7	OMIM:612001
HP:0002813	Abnormal limb bone morphology	23414	ZFPM2	ORPHA:3303
HP:0002813	Abnormal limb bone morphology	2626	GATA4	ORPHA:3303
HP:0002813	Abnormal limb bone morphology	3791	KDR	ORPHA:3303
HP:0002813	Abnormal limb bone morphology	2657	GDF1	ORPHA:3303
HP:0002813	Abnormal limb bone morphology	140628	GATA5	ORPHA:3303
HP:0002813	Abnormal limb bone morphology	2324	FLT4	ORPHA:3303
HP:0002813	Abnormal limb bone morphology	10370	CITED2	ORPHA:3303
HP:0002813	Abnormal limb bone morphology	389827	MYMK	ORPHA:1358
HP:0002813	Abnormal limb bone morphology	101929726	MYMX	ORPHA:1358
HP:0002813	Abnormal limb bone morphology	23028	KDM1A	ORPHA:477993
HP:0002813	Abnormal limb bone morphology	8092	ALX1	ORPHA:306542
HP:0002813	Abnormal limb bone morphology	54361	WNT4	ORPHA:247768
HP:0002813	Abnormal limb bone morphology	23556	PIGN	ORPHA:280633
HP:0002813	Abnormal limb bone morphology	5744	PTHLH	OMIM:613382
HP:0002813	Abnormal limb bone morphology	113246	C12orf57	OMIM:218340
HP:0002813	Abnormal limb bone morphology	4094	MAF	OMIM:601088
HP:0002813	Abnormal limb bone morphology	6913	TBX15	ORPHA:93333
HP:0002813	Abnormal limb bone morphology	23404	EXOSC2	OMIM:617763
HP:0002813	Abnormal limb bone morphology	2036	EPB41L1	OMIM:614257
HP:0002813	Abnormal limb bone morphology	406932	MIR140	OMIM:618618
HP:0002813	Abnormal limb bone morphology	255758	DYNLT2B	OMIM:617405
HP:0002813	Abnormal limb bone morphology	2245	FGD1	OMIM:305400
HP:0002813	Abnormal limb bone morphology	28981	IFT81	OMIM:617895
HP:0002813	Abnormal limb bone morphology	23592	LEMD3	ORPHA:166119
HP:0002813	Abnormal limb bone morphology	23135	KDM6B	OMIM:618505
HP:0002813	Abnormal limb bone morphology	84529	CDIN1	OMIM:615631
HP:0002813	Abnormal limb bone morphology	5885	RAD21	OMIM:614701
HP:0002813	Abnormal limb bone morphology	8195	MKKS	OMIM:236700
HP:0002813	Abnormal limb bone morphology	8195	MKKS	OMIM:605231
HP:0002813	Abnormal limb bone morphology	8195	MKKS	ORPHA:110
HP:0002813	Abnormal limb bone morphology	57167	SALL4	OMIM:607323
HP:0002813	Abnormal limb bone morphology	4920	ROR2	OMIM:113000
HP:0002813	Abnormal limb bone morphology	4920	ROR2	OMIM:268310
HP:0002813	Abnormal limb bone morphology	1723	DHODH	OMIM:263750
HP:0002813	Abnormal limb bone morphology	473	RERE	OMIM:616975
HP:0002813	Abnormal limb bone morphology	4552	MTRR	ORPHA:2169
HP:0002813	Abnormal limb bone morphology	22858	CILK1	OMIM:612651
HP:0002813	Abnormal limb bone morphology	55249	YY1AP1	ORPHA:79094
HP:0002813	Abnormal limb bone morphology	55249	YY1AP1	OMIM:602531
HP:0002813	Abnormal limb bone morphology	2033	EP300	ORPHA:353284
HP:0002813	Abnormal limb bone morphology	2033	EP300	OMIM:180849
HP:0002813	Abnormal limb bone morphology	2033	EP300	OMIM:613684
HP:0002813	Abnormal limb bone morphology	2192	FBLN1	ORPHA:404451
HP:0002813	Abnormal limb bone morphology	1146	CHRNG	OMIM:265000
HP:0002813	Abnormal limb bone morphology	4052	LTBP1	OMIM:619451
HP:0002813	Abnormal limb bone morphology	8913	CACNA1G	OMIM:618087
HP:0002813	Abnormal limb bone morphology	10265	IRX5	OMIM:611174
HP:0002813	Abnormal limb bone morphology	54567	DLL4	OMIM:616589
HP:0002813	Abnormal limb bone morphology	84100	ARL6	OMIM:209900
HP:0002813	Abnormal limb bone morphology	84100	ARL6	ORPHA:110
HP:0002813	Abnormal limb bone morphology	79140	CCDC28B	OMIM:209900
HP:0002813	Abnormal limb bone morphology	582	BBS1	OMIM:209900
HP:0002813	Abnormal limb bone morphology	582	BBS1	ORPHA:110
HP:0002813	Abnormal limb bone morphology	1009	CDH11	OMIM:619736
HP:0002813	Abnormal limb bone morphology	894	CCND2	OMIM:615938
HP:0002813	Abnormal limb bone morphology	23389	MED13L	ORPHA:369891
HP:0002813	Abnormal limb bone morphology	9839	ZEB2	ORPHA:261552
HP:0002813	Abnormal limb bone morphology	9839	ZEB2	ORPHA:261537
HP:0002813	Abnormal limb bone morphology	8550	MAPKAPK5	OMIM:619869
HP:0002813	Abnormal limb bone morphology	7291	TWIST1	OMIM:101400
HP:0002813	Abnormal limb bone morphology	51715	RAB23	ORPHA:65759
HP:0002813	Abnormal limb bone morphology	1954	MEGF8	ORPHA:65759
HP:0002813	Abnormal limb bone morphology	9419	CRIPT	OMIM:615789
HP:0002813	Abnormal limb bone morphology	2737	GLI3	OMIM:146510
HP:0002813	Abnormal limb bone morphology	2737	GLI3	OMIM:175700
HP:0002813	Abnormal limb bone morphology	2737	GLI3	OMIM:174200
HP:0002813	Abnormal limb bone morphology	2737	GLI3	ORPHA:93322
HP:0002813	Abnormal limb bone morphology	92482	BBIP1	ORPHA:110
HP:0002813	Abnormal limb bone morphology	11020	IFT27	ORPHA:110
HP:0002813	Abnormal limb bone morphology	49855	SCAPER	ORPHA:110
HP:0002813	Abnormal limb bone morphology	4867	NPHP1	ORPHA:110
HP:0002813	Abnormal limb bone morphology	51057	WDPCP	ORPHA:110
HP:0002813	Abnormal limb bone morphology	132320	SCLT1	ORPHA:110
HP:0002813	Abnormal limb bone morphology	27241	BBS9	ORPHA:110
HP:0002813	Abnormal limb bone morphology	27241	BBS9	OMIM:615986
HP:0002813	Abnormal limb bone morphology	84984	CEP19	ORPHA:110
HP:0002813	Abnormal limb bone morphology	22954	TRIM32	ORPHA:110
HP:0002813	Abnormal limb bone morphology	79738	BBS10	ORPHA:110
HP:0002813	Abnormal limb bone morphology	123016	TTC8	ORPHA:110
HP:0002813	Abnormal limb bone morphology	583	BBS2	ORPHA:110
HP:0002813	Abnormal limb bone morphology	585	BBS4	ORPHA:110
HP:0002813	Abnormal limb bone morphology	585	BBS4	OMIM:615982
HP:0002813	Abnormal limb bone morphology	54585	LZTFL1	ORPHA:110
HP:0002813	Abnormal limb bone morphology	55212	BBS7	ORPHA:110
HP:0002813	Abnormal limb bone morphology	166379	BBS12	ORPHA:110
HP:0002813	Abnormal limb bone morphology	10806	SDCCAG8	ORPHA:110
HP:0002813	Abnormal limb bone morphology	157657	CFAP418	ORPHA:110
HP:0002813	Abnormal limb bone morphology	129880	BBS5	ORPHA:110
HP:0002813	Abnormal limb bone morphology	129880	BBS5	OMIM:615983
HP:0002813	Abnormal limb bone morphology	80173	IFT74	ORPHA:110
HP:0002813	Abnormal limb bone morphology	54880	BCOR	OMIM:309800
HP:0002813	Abnormal limb bone morphology	8260	NAA10	OMIM:309800
HP:0002813	Abnormal limb bone morphology	23126	POGZ	OMIM:616364
HP:0002813	Abnormal limb bone morphology	4000	LMNA	OMIM:610140
HP:0002813	Abnormal limb bone morphology	145173	B3GLCT	OMIM:261540
HP:0002813	Abnormal limb bone morphology	1387	CREBBP	OMIM:180849
HP:0002813	Abnormal limb bone morphology	1387	CREBBP	ORPHA:353277
HP:0002813	Abnormal limb bone morphology	79633	FAT4	OMIM:616006
HP:0002813	Abnormal limb bone morphology	79633	FAT4	ORPHA:314679
HP:0002813	Abnormal limb bone morphology	29957	SLC25A24	OMIM:612289
HP:0002813	Abnormal limb bone morphology	4659	PPP1R12A	OMIM:618820
HP:0002813	Abnormal limb bone morphology	2887	GRB10	ORPHA:96182
HP:0002813	Abnormal limb bone morphology	5290	PIK3CA	OMIM:602501
HP:0002813	Abnormal limb bone morphology	6305	SBF1	OMIM:615284
HP:0002813	Abnormal limb bone morphology	374879	ZNF699	OMIM:619488
HP:0002813	Abnormal limb bone morphology	1857	DVL3	OMIM:616894
HP:0002813	Abnormal limb bone morphology	28952	CCDC22	OMIM:300963
HP:0002813	Abnormal limb bone morphology	641	BLM	OMIM:210900
HP:0002813	Abnormal limb bone morphology	8481	OFD1	OMIM:311200
HP:0002813	Abnormal limb bone morphology	8481	OFD1	ORPHA:2754
HP:0002813	Abnormal limb bone morphology	8642	DCHS1	ORPHA:314679
HP:0002813	Abnormal limb bone morphology	9968	MED12	OMIM:305450
HP:0002813	Abnormal limb bone morphology	3239	HOXD13	OMIM:610713
HP:0002813	Abnormal limb bone morphology	57688	ZSWIM6	OMIM:603671
HP:0002813	Abnormal limb bone morphology	9897	WASHC5	OMIM:220210
HP:0002813	Abnormal limb bone morphology	4677	NARS1	OMIM:619091
HP:0002813	Abnormal limb bone morphology	4677	NARS1	OMIM:619092
HP:0002813	Abnormal limb bone morphology	79989	IFT56	OMIM:619534
HP:0002813	Abnormal limb bone morphology	84231	TRAF7	OMIM:618164
HP:0002813	Abnormal limb bone morphology	51317	PHF21A	OMIM:618725
HP:0002813	Abnormal limb bone morphology	4851	NOTCH1	OMIM:616028
HP:0002813	Abnormal limb bone morphology	25836	NIPBL	OMIM:122470
HP:0002813	Abnormal limb bone morphology	51594	NBAS	OMIM:614800
HP:0002813	Abnormal limb bone morphology	7048	TGFBR2	OMIM:610168
HP:0002813	Abnormal limb bone morphology	775	CACNA1C	OMIM:618447
HP:0002813	Abnormal limb bone morphology	85459	CEP295	OMIM:620767
HP:0002813	Abnormal limb bone morphology	6513	SLC2A1	ORPHA:1942
HP:0002813	Abnormal limb bone morphology	8831	SYNGAP1	ORPHA:1942
HP:0002813	Abnormal limb bone morphology	1173	AP2M1	ORPHA:1942
HP:0002813	Abnormal limb bone morphology	6323	SCN1A	ORPHA:1942
HP:0002813	Abnormal limb bone morphology	340533	NEXMIF	ORPHA:1942
HP:0002813	Abnormal limb bone morphology	1106	CHD2	ORPHA:1942
HP:0002813	Abnormal limb bone morphology	6529	SLC6A1	ORPHA:1942
HP:0002813	Abnormal limb bone morphology	10210	TOPORS	ORPHA:2754
HP:0002813	Abnormal limb bone morphology	5147	PDE6D	ORPHA:2754
HP:0002813	Abnormal limb bone morphology	65250	CPLANE1	ORPHA:2754
HP:0002813	Abnormal limb bone morphology	317662	FAM149B1	ORPHA:2754
HP:0002813	Abnormal limb bone morphology	374654	KIF7	ORPHA:2754
HP:0002813	Abnormal limb bone morphology	6910	TBX5	OMIM:142900
HP:0002813	Abnormal limb bone morphology	1832	DSP	OMIM:609638
HP:0002813	Abnormal limb bone morphology	3914	LAMB3	OMIM:226700
HP:0002813	Abnormal limb bone morphology	3918	LAMC2	OMIM:226700
HP:0002813	Abnormal limb bone morphology	3909	LAMA3	OMIM:226700
HP:0002813	Abnormal limb bone morphology	171023	ASXL1	OMIM:605039
HP:0002813	Abnormal limb bone morphology	29123	ANKRD11	OMIM:148050
HP:0002813	Abnormal limb bone morphology	54101	RIPK4	OMIM:263650
HP:0002813	Abnormal limb bone morphology	92935	MARS2	OMIM:616430
HP:0002813	Abnormal limb bone morphology	146059	CDAN1	OMIM:224120
HP:0002813	Abnormal limb bone morphology	10464	PIBF1	OMIM:617767
HP:0002813	Abnormal limb bone morphology	10801	SEPTIN9	ORPHA:2901
HP:0002813	Abnormal limb bone morphology	5908	RAP1B	OMIM:620654
HP:0002813	Abnormal limb bone morphology	27145	FILIP1	OMIM:620775
HP:0002813	Abnormal limb bone morphology	3207	HOXA11	OMIM:605432
HP:0002813	Abnormal limb bone morphology	8022	LHX3	ORPHA:226307
HP:0002813	Abnormal limb bone morphology	51	ACOX1	ORPHA:2971
HP:0002813	Abnormal limb bone morphology	7547	ZIC3	OMIM:314390
HP:0002813	Abnormal limb bone morphology	25970	SH2B1	ORPHA:261197
HP:0002813	Abnormal limb bone morphology	10000	AKT3	ORPHA:83473
HP:0002813	Abnormal limb bone morphology	10000	AKT3	OMIM:615937
HP:0002813	Abnormal limb bone morphology	4149	MAX	OMIM:620712
HP:0002813	Abnormal limb bone morphology	285600	KIAA0825	OMIM:618498
HP:0002813	Abnormal limb bone morphology	23288	IQCE	OMIM:617642
HP:0002813	Abnormal limb bone morphology	137392	CIBAR1	OMIM:618219
HP:0002813	Abnormal limb bone morphology	4088	SMAD3	ORPHA:284984
HP:0002813	Abnormal limb bone morphology	4088	SMAD3	OMIM:613795
HP:0002813	Abnormal limb bone morphology	4088	SMAD3	ORPHA:60030
HP:0002813	Abnormal limb bone morphology	4088	SMAD3	ORPHA:91387
HP:0002813	Abnormal limb bone morphology	199857	ALG14	OMIM:619036
HP:0002813	Abnormal limb bone morphology	8925	HERC1	OMIM:617011
HP:0002813	Abnormal limb bone morphology	8925	HERC1	ORPHA:457359
HP:0002813	Abnormal limb bone morphology	1075	CTSC	OMIM:245010
HP:0002813	Abnormal limb bone morphology	1075	CTSC	ORPHA:678
HP:0002813	Abnormal limb bone morphology	5351	PLOD1	OMIM:225400
HP:0002813	Abnormal limb bone morphology	8076	MFAP5	OMIM:616166
HP:0002813	Abnormal limb bone morphology	8076	MFAP5	ORPHA:91387
HP:0002813	Abnormal limb bone morphology	2202	EFEMP1	OMIM:620780
HP:0002813	Abnormal limb bone morphology	80816	ASXL3	OMIM:615485
HP:0002813	Abnormal limb bone morphology	80816	ASXL3	ORPHA:352577
HP:0002813	Abnormal limb bone morphology	72	ACTG2	ORPHA:2604
HP:0002813	Abnormal limb bone morphology	10084	PQBP1	ORPHA:93946
HP:0002813	Abnormal limb bone morphology	1272	CNTN1	OMIM:612540
HP:0002813	Abnormal limb bone morphology	79576	NKAP	OMIM:301039
HP:0002813	Abnormal limb bone morphology	23152	CIC	OMIM:617600
HP:0002813	Abnormal limb bone morphology	285175	UNC80	ORPHA:371364
HP:0002813	Abnormal limb bone morphology	81031	SLC2A10	ORPHA:3342
HP:0002813	Abnormal limb bone morphology	81031	SLC2A10	OMIM:208050
HP:0002813	Abnormal limb bone morphology	715	C1R	OMIM:130080
HP:0002813	Abnormal limb bone morphology	1742	DLG4	OMIM:618793
HP:0002813	Abnormal limb bone morphology	11107	PRDM5	ORPHA:90354
HP:0002813	Abnormal limb bone morphology	84627	ZNF469	ORPHA:90354
HP:0002813	Abnormal limb bone morphology	6651	SON	ORPHA:500150
HP:0002813	Abnormal limb bone morphology	2193	FARSA	OMIM:619013
HP:0002813	Abnormal limb bone morphology	29893	PSMC3IP	ORPHA:243
HP:0002813	Abnormal limb bone morphology	171568	POLR3H	ORPHA:243
HP:0002813	Abnormal limb bone morphology	2516	NR5A1	ORPHA:243
HP:0002813	Abnormal limb bone morphology	125150	ZSWIM7	ORPHA:243
HP:0002813	Abnormal limb bone morphology	9210	BMP15	ORPHA:243
HP:0002813	Abnormal limb bone morphology	23514	SPIDR	ORPHA:243
HP:0002813	Abnormal limb bone morphology	2492	FSHR	ORPHA:243
HP:0002813	Abnormal limb bone morphology	56945	MRPS22	ORPHA:243
HP:0002813	Abnormal limb bone morphology	646	BNC1	ORPHA:243
HP:0002813	Abnormal limb bone morphology	4438	MSH4	ORPHA:243
HP:0002813	Abnormal limb bone morphology	55553	SOX6	OMIM:618971
HP:0002813	Abnormal limb bone morphology	7043	TGFB3	OMIM:615582
HP:0002813	Abnormal limb bone morphology	7043	TGFB3	ORPHA:60030
HP:0002813	Abnormal limb bone morphology	7043	TGFB3	ORPHA:91387
HP:0002813	Abnormal limb bone morphology	7042	TGFB2	ORPHA:60030
HP:0002813	Abnormal limb bone morphology	7042	TGFB2	OMIM:614816
HP:0002813	Abnormal limb bone morphology	7042	TGFB2	ORPHA:91387
HP:0002813	Abnormal limb bone morphology	4629	MYH11	ORPHA:91387
HP:0002813	Abnormal limb bone morphology	4015	LOX	ORPHA:91387
HP:0002813	Abnormal limb bone morphology	59	ACTA2	ORPHA:91387
HP:0002813	Abnormal limb bone morphology	5592	PRKG1	ORPHA:91387
HP:0002813	Abnormal limb bone morphology	2301	FOXE3	ORPHA:91387
HP:0002813	Abnormal limb bone morphology	4144	MAT2A	ORPHA:91387
HP:0002813	Abnormal limb bone morphology	23493	HEY2	ORPHA:91387
HP:0002813	Abnormal limb bone morphology	4638	MYLK	ORPHA:91387
HP:0002813	Abnormal limb bone morphology	79875	THSD4	ORPHA:91387
HP:0002813	Abnormal limb bone morphology	23394	ADNP	ORPHA:404448
HP:0002813	Abnormal limb bone morphology	1593	CYP27A1	ORPHA:909
HP:0002813	Abnormal limb bone morphology	4893	NRAS	OMIM:163200
HP:0002813	Abnormal limb bone morphology	3845	KRAS	OMIM:163200
HP:0002813	Abnormal limb bone morphology	3265	HRAS	OMIM:163200
HP:0002813	Abnormal limb bone morphology	526	ATP6V1B2	ORPHA:79500
HP:0002813	Abnormal limb bone morphology	57465	TBC1D24	ORPHA:79500
HP:0002813	Abnormal limb bone morphology	207	AKT1	ORPHA:744
HP:0002813	Abnormal limb bone morphology	6595	SMARCA2	ORPHA:3051
HP:0002813	Abnormal limb bone morphology	23400	ATP13A2	ORPHA:306674
HP:0002813	Abnormal limb bone morphology	64374	SIL1	ORPHA:559
HP:0002813	Abnormal limb bone morphology	91949	COG7	ORPHA:79333
HP:0002813	Abnormal limb bone morphology	5077	PAX3	ORPHA:896
HP:0002813	Abnormal limb bone morphology	6926	TBX3	ORPHA:3138
HP:0002813	Abnormal limb bone morphology	64840	PORCN	OMIM:305600
HP:0002813	Abnormal limb bone morphology	64840	PORCN	ORPHA:2092
HP:0002813	Abnormal limb bone morphology	5376	PMP22	OMIM:118300
HP:0002813	Abnormal limb bone morphology	5376	PMP22	OMIM:118220
HP:0002813	Abnormal limb bone morphology	5376	PMP22	ORPHA:90658
HP:0002813	Abnormal limb bone morphology	5376	PMP22	OMIM:145900
HP:0002813	Abnormal limb bone morphology	3094	HINT1	ORPHA:324442
HP:0002813	Abnormal limb bone morphology	22880	MORC2	OMIM:616688
HP:0002813	Abnormal limb bone morphology	9231	DLG5	OMIM:620703
HP:0002813	Abnormal limb bone morphology	4047	LSS	ORPHA:2850
HP:0002813	Abnormal limb bone morphology	197	AHSG	ORPHA:2850
HP:0002813	Abnormal limb bone morphology	3694	ITGB6	ORPHA:2850
HP:0002813	Abnormal limb bone morphology	79581	SLC52A2	OMIM:614707
HP:0002813	Abnormal limb bone morphology	9150	CTDP1	OMIM:604168
HP:0002813	Abnormal limb bone morphology	54332	GDAP1	OMIM:607831
HP:0002813	Abnormal limb bone morphology	54332	GDAP1	ORPHA:101097
HP:0002813	Abnormal limb bone morphology	56704	JPH1	OMIM:607831
HP:0002813	Abnormal limb bone morphology	51776	MAP3K20	OMIM:616890
HP:0002813	Abnormal limb bone morphology	81846	SBF2	OMIM:604563
HP:0002813	Abnormal limb bone morphology	8888	MCM3AP	OMIM:618124
HP:0002813	Abnormal limb bone morphology	4359	MPZ	OMIM:118200
HP:0002813	Abnormal limb bone morphology	4359	MPZ	OMIM:145900
HP:0002813	Abnormal limb bone morphology	3664	IRF6	ORPHA:1300
HP:0002813	Abnormal limb bone morphology	374969	SVBP	OMIM:618569
HP:0002813	Abnormal limb bone morphology	3295	HSD17B4	OMIM:261515
HP:0002813	Abnormal limb bone morphology	1509	CTSD	OMIM:610127
HP:0002813	Abnormal limb bone morphology	26580	BSCL2	OMIM:270685
HP:0002813	Abnormal limb bone morphology	26580	BSCL2	ORPHA:100998
HP:0002813	Abnormal limb bone morphology	10397	NDRG1	ORPHA:99950
HP:0002813	Abnormal limb bone morphology	10815	CPLX1	ORPHA:280
HP:0002813	Abnormal limb bone morphology	10815	CPLX1	OMIM:194190
HP:0002813	Abnormal limb bone morphology	54872	PIGG	ORPHA:280
HP:0002813	Abnormal limb bone morphology	7469	NELFA	ORPHA:280
HP:0002813	Abnormal limb bone morphology	1487	CTBP1	ORPHA:280
HP:0002813	Abnormal limb bone morphology	1487	CTBP1	OMIM:194190
HP:0002813	Abnormal limb bone morphology	3954	LETM1	ORPHA:280
HP:0002813	Abnormal limb bone morphology	3954	LETM1	OMIM:194190
HP:0002813	Abnormal limb bone morphology	7468	NSD2	ORPHA:280
HP:0002813	Abnormal limb bone morphology	7468	NSD2	OMIM:194190
HP:0002813	Abnormal limb bone morphology	4747	NEFL	OMIM:617882
HP:0002813	Abnormal limb bone morphology	3178	HNRNPA1	OMIM:610099
HP:0002813	Abnormal limb bone morphology	53834	FGFRL1	OMIM:194190
HP:0002813	Abnormal limb bone morphology	1959	EGR2	OMIM:145900
HP:0002813	Abnormal limb bone morphology	57716	PRX	OMIM:145900
HP:0002813	Abnormal limb bone morphology	80207	OPA3	ORPHA:67036
HP:0002813	Abnormal limb bone morphology	1193	CLIC2	ORPHA:324410
HP:0002813	Abnormal limb bone morphology	83871	RAB34	OMIM:620718
HP:0002813	Abnormal limb bone morphology	7020	TFAP2A	OMIM:113620
HP:0002813	Abnormal limb bone morphology	7020	TFAP2A	ORPHA:1297
HP:0002813	Abnormal limb bone morphology	27238	GPKOW	ORPHA:2570
HP:0002813	Abnormal limb bone morphology	23141	ANKLE2	OMIM:616681
HP:0002813	Abnormal limb bone morphology	29895	MYL11	OMIM:619110
HP:0002813	Abnormal limb bone morphology	5393	EXOSC9	OMIM:618065
HP:0002813	Abnormal limb bone morphology	1861	TOR1A	OMIM:618947
HP:0002813	Abnormal limb bone morphology	55627	SMPD4	OMIM:618622
HP:0002813	Abnormal limb bone morphology	5832	ALDH18A1	OMIM:616603
HP:0002813	Abnormal limb bone morphology	5832	ALDH18A1	OMIM:219150
HP:0002813	Abnormal limb bone morphology	5832	ALDH18A1	ORPHA:90348
HP:0002813	Abnormal limb bone morphology	347734	SLC35B2	OMIM:620269
HP:0002813	Abnormal limb bone morphology	23345	SYNE1	ORPHA:319332
HP:0002813	Abnormal limb bone morphology	23345	SYNE1	OMIM:618484
HP:0002813	Abnormal limb bone morphology	5649	RELN	ORPHA:89844
HP:0002813	Abnormal limb bone morphology	10300	KATNB1	ORPHA:89844
HP:0002813	Abnormal limb bone morphology	54820	NDE1	ORPHA:89844
HP:0002813	Abnormal limb bone morphology	131377	KLHL40	ORPHA:171430
HP:0002813	Abnormal limb bone morphology	2782	GNB1	OMIM:616973
HP:0002813	Abnormal limb bone morphology	91869	RFT1	OMIM:612015
HP:0002813	Abnormal limb bone morphology	3897	L1CAM	ORPHA:306617
HP:0002813	Abnormal limb bone morphology	3897	L1CAM	OMIM:303350
HP:0002813	Abnormal limb bone morphology	3897	L1CAM	OMIM:307000
HP:0002813	Abnormal limb bone morphology	3897	L1CAM	ORPHA:2182
HP:0002813	Abnormal limb bone morphology	9179	AP4M1	OMIM:612936
HP:0002813	Abnormal limb bone morphology	79868	ALG13	ORPHA:324422
HP:0002813	Abnormal limb bone morphology	10273	STUB1	ORPHA:412057
HP:0002813	Abnormal limb bone morphology	4604	MYBPC1	ORPHA:1146
HP:0002813	Abnormal limb bone morphology	10516	FBLN5	ORPHA:90348
HP:0002813	Abnormal limb bone morphology	57211	ADGRG6	OMIM:616503
HP:0002813	Abnormal limb bone morphology	10943	MSL3	OMIM:301032
HP:0002813	Abnormal limb bone morphology	9427	ECEL1	OMIM:615065
HP:0002813	Abnormal limb bone morphology	6999	TDO2	OMIM:600627
HP:0002813	Abnormal limb bone morphology	84896	ATAD1	OMIM:618011
HP:0002813	Abnormal limb bone morphology	79693	YRDC	ORPHA:2065
HP:0002813	Abnormal limb bone morphology	51002	TPRKB	ORPHA:2065
HP:0002813	Abnormal limb bone morphology	55644	OSGEP	ORPHA:2065
HP:0002813	Abnormal limb bone morphology	10785	WDR4	ORPHA:2065
HP:0002813	Abnormal limb bone morphology	55746	NUP133	ORPHA:2065
HP:0002813	Abnormal limb bone morphology	84520	GON7	ORPHA:2065
HP:0002813	Abnormal limb bone morphology	112858	TP53RK	ORPHA:2065
HP:0002813	Abnormal limb bone morphology	8270	LAGE3	ORPHA:2065
HP:0002813	Abnormal limb bone morphology	9244	CRLF1	OMIM:272430
HP:0002813	Abnormal limb bone morphology	23019	CNOT1	OMIM:619033
HP:0002813	Abnormal limb bone morphology	55904	KMT2E	OMIM:618512
HP:0002813	Abnormal limb bone morphology	24142	NAA80	OMIM:620830
HP:0002813	Abnormal limb bone morphology	10978	CLP1	OMIM:615803
HP:0002813	Abnormal limb bone morphology	1889	ECE1	OMIM:613870
HP:0002813	Abnormal limb bone morphology	9326	ZNHIT3	ORPHA:2836
HP:0002813	Abnormal limb bone morphology	9326	ZNHIT3	OMIM:260565
HP:0002813	Abnormal limb bone morphology	2770	GNAI1	OMIM:619854
HP:0002813	Abnormal limb bone morphology	57282	SLC4A10	OMIM:620746
HP:0002813	Abnormal limb bone morphology	51611	DPH5	OMIM:620070
HP:0002813	Abnormal limb bone morphology	58508	KMT2C	ORPHA:261652
HP:0002813	Abnormal limb bone morphology	4849	CNOT3	OMIM:618672
HP:0002813	Abnormal limb bone morphology	81887	LAS1L	ORPHA:3459
HP:0002813	Abnormal limb bone morphology	81887	LAS1L	OMIM:309585
HP:0002813	Abnormal limb bone morphology	9230	RAB11B	OMIM:617807
HP:0002813	Abnormal limb bone morphology	78987	CRELD1	OMIM:620771
HP:0002813	Abnormal limb bone morphology	9488	PIGB	OMIM:618580
HP:0002813	Abnormal limb bone morphology	84320	ACBD6	OMIM:620785
HP:0002813	Abnormal limb bone morphology	6492	SIM1	ORPHA:171829
HP:0002813	Abnormal limb bone morphology	3097	HIVEP2	OMIM:616977
HP:0002813	Abnormal limb bone morphology	10588	MTHFS	OMIM:618367
HP:0002813	Abnormal limb bone morphology	1108	CHD4	OMIM:617159
HP:0002813	Abnormal limb bone morphology	91137	SLC25A46	OMIM:616505
HP:0002813	Abnormal limb bone morphology	8604	SLC25A12	OMIM:612949
HP:0002813	Abnormal limb bone morphology	8812	CCNK	OMIM:618147
HP:0002813	Abnormal limb bone morphology	8936	WASF1	OMIM:618707
HP:0002813	Abnormal limb bone morphology	8405	SPOP	OMIM:618829
HP:0002813	Abnormal limb bone morphology	11198	SUPT16H	OMIM:619480
HP:0002813	Abnormal limb bone morphology	23067	SETD1B	OMIM:619000
HP:0002813	Abnormal limb bone morphology	55704	CCDC88A	OMIM:617507
HP:0002813	Abnormal limb bone morphology	1315	COPB1	OMIM:619255
HP:0002813	Abnormal limb bone morphology	1968	EIF2S3	ORPHA:85282
HP:0002813	Abnormal limb bone morphology	5557	PRIM1	OMIM:620005
HP:0002813	Abnormal limb bone morphology	283450	HECTD4	OMIM:620250
HP:0002813	Abnormal limb bone morphology	387733	IFITM5	OMIM:610967
HP:0002813	Abnormal limb bone morphology	23114	NFASC	OMIM:618356
HP:0002813	Abnormal limb bone morphology	1105	CHD1	ORPHA:529965
HP:0002813	Abnormal limb bone morphology	10269	ZMPSTE24	ORPHA:90154
HP:0002813	Abnormal limb bone morphology	5063	PAK3	OMIM:300558
HP:0002813	Abnormal limb bone morphology	6228	RPS23	OMIM:617412
HP:0002813	Abnormal limb bone morphology	55628	ZNF407	OMIM:619557
HP:0002813	Abnormal limb bone morphology	91461	PKDCC	OMIM:618821
HP:0002813	Abnormal limb bone morphology	11133	KPTN	OMIM:615637
HP:0002813	Abnormal limb bone morphology	4076	CAPRIN1	OMIM:620782
HP:0002813	Abnormal limb bone morphology	93986	FOXP2	ORPHA:251061
HP:0002813	Abnormal limb bone morphology	7025	NR2F1	OMIM:615722
HP:0002813	Abnormal limb bone morphology	23065	EMC1	ORPHA:480898
HP:0002813	Abnormal limb bone morphology	23065	EMC1	OMIM:616875
HP:0002813	Abnormal limb bone morphology	1822	ATN1	OMIM:618494
HP:0002813	Abnormal limb bone morphology	23036	ZNF292	OMIM:619188
HP:0002813	Abnormal limb bone morphology	3188	HNRNPH2	OMIM:300986
HP:0002813	Abnormal limb bone morphology	94	ACVRL1	OMIM:600376
HP:0002813	Abnormal limb bone morphology	6340	SCNN1G	ORPHA:60033
HP:0002813	Abnormal limb bone morphology	1080	CFTR	ORPHA:60033
HP:0002813	Abnormal limb bone morphology	6337	SCNN1A	ORPHA:60033
HP:0002813	Abnormal limb bone morphology	6338	SCNN1B	ORPHA:60033
HP:0002813	Abnormal limb bone morphology	3659	IRF1	OMIM:620668
HP:0002813	Abnormal limb bone morphology	3123	HLA-DRB1	ORPHA:747
HP:0002813	Abnormal limb bone morphology	3123	HLA-DRB1	OMIM:181000
HP:0002813	Abnormal limb bone morphology	3248	HPGD	OMIM:259100
HP:0002813	Abnormal limb bone morphology	3248	HPGD	OMIM:119900
HP:0002813	Abnormal limb bone morphology	8318	CDC45	OMIM:617063
HP:0002813	Abnormal limb bone morphology	4141	MARS1	OMIM:615486
HP:0002813	Abnormal limb bone morphology	55072	RNF31	OMIM:620632
HP:0002813	Abnormal limb bone morphology	6925	TCF4	OMIM:610954
HP:0002813	Abnormal limb bone morphology	6440	SFTPC	OMIM:610913
HP:0002813	Abnormal limb bone morphology	6439	SFTPB	OMIM:265120
HP:0002813	Abnormal limb bone morphology	2022	ENG	OMIM:187300
HP:0002813	Abnormal limb bone morphology	5422	POLA1	OMIM:301220
HP:0002813	Abnormal limb bone morphology	653509	SFTPA1	OMIM:619611
HP:0002813	Abnormal limb bone morphology	657	BMPR1A	OMIM:174900
HP:0002813	Abnormal limb bone morphology	6578	SLCO2A1	OMIM:614441
HP:0002813	Abnormal limb bone morphology	738	VPS51	OMIM:618606
HP:0002813	Abnormal limb bone morphology	56244	BTNL2	OMIM:612387
HP:0002813	Abnormal limb bone morphology	6794	STK11	OMIM:175200
HP:0002813	Abnormal limb bone morphology	3868	KRT16	ORPHA:2199
HP:0002813	Abnormal limb bone morphology	3857	KRT9	ORPHA:2199
HP:0002813	Abnormal limb bone morphology	3848	KRT1	ORPHA:2199
HP:0002813	Abnormal limb bone morphology	404672	GTF2H5	ORPHA:33364
HP:0002813	Abnormal limb bone morphology	833	CARS1	ORPHA:33364
HP:0002813	Abnormal limb bone morphology	2068	ERCC2	ORPHA:33364
HP:0002813	Abnormal limb bone morphology	7737	RNF113A	ORPHA:33364
HP:0002813	Abnormal limb bone morphology	136647	MPLKIP	ORPHA:33364
HP:0002813	Abnormal limb bone morphology	6897	TARS1	ORPHA:33364
HP:0002813	Abnormal limb bone morphology	16	AARS1	ORPHA:33364
HP:0002813	Abnormal limb bone morphology	2071	ERCC3	ORPHA:33364
HP:0002813	Abnormal limb bone morphology	2961	GTF2E2	ORPHA:33364
HP:0002813	Abnormal limb bone morphology	25913	POT1	OMIM:620367
HP:0002813	Abnormal limb bone morphology	21	ABCA3	OMIM:610921
HP:0002813	Abnormal limb bone morphology	2317	FLNB	OMIM:108720
HP:0002813	Abnormal limb bone morphology	3858	KRT10	OMIM:609165
HP:0002813	Abnormal limb bone morphology	25981	DNAH1	ORPHA:244
HP:0002813	Abnormal limb bone morphology	115948	ODAD3	ORPHA:244
HP:0002813	Abnormal limb bone morphology	54768	HYDIN	ORPHA:244
HP:0002813	Abnormal limb bone morphology	352909	DNAAF3	ORPHA:244
HP:0002813	Abnormal limb bone morphology	27148	STK36	ORPHA:244
HP:0002813	Abnormal limb bone morphology	51314	NME8	ORPHA:244
HP:0002813	Abnormal limb bone morphology	92749	DRC1	ORPHA:244
HP:0002813	Abnormal limb bone morphology	54970	TTC12	ORPHA:244
HP:0002813	Abnormal limb bone morphology	152110	NEK10	ORPHA:244
HP:0002813	Abnormal limb bone morphology	2302	FOXJ1	ORPHA:244
HP:0002813	Abnormal limb bone morphology	221421	RSPH9	ORPHA:244
HP:0002813	Abnormal limb bone morphology	85478	CCDC65	ORPHA:244
HP:0002813	Abnormal limb bone morphology	55036	CCDC40	ORPHA:244
HP:0002813	Abnormal limb bone morphology	51364	ZMYND10	ORPHA:244
HP:0002813	Abnormal limb bone morphology	64446	DNAI2	ORPHA:244
HP:0002813	Abnormal limb bone morphology	8382	NME5	ORPHA:244
HP:0002813	Abnormal limb bone morphology	6674	SPAG1	ORPHA:244
HP:0002813	Abnormal limb bone morphology	83544	DNAL1	ORPHA:244
HP:0002813	Abnormal limb bone morphology	89765	RSPH1	ORPHA:244
HP:0002813	Abnormal limb bone morphology	83538	ODAD4	ORPHA:244
HP:0002813	Abnormal limb bone morphology	200373	CFAP221	ORPHA:244
HP:0002813	Abnormal limb bone morphology	374407	DNAJB13	ORPHA:244
HP:0002813	Abnormal limb bone morphology	55172	DNAAF2	ORPHA:244
HP:0002813	Abnormal limb bone morphology	161582	DNAAF4	ORPHA:244
HP:0002813	Abnormal limb bone morphology	2622	GAS8	ORPHA:244
HP:0002813	Abnormal limb bone morphology	23639	DNAAF11	ORPHA:244
HP:0002813	Abnormal limb bone morphology	27019	DNAI1	ORPHA:244
HP:0002813	Abnormal limb bone morphology	345895	RSPH4A	ORPHA:244
HP:0002813	Abnormal limb bone morphology	54919	DNAAF5	ORPHA:244
HP:0002813	Abnormal limb bone morphology	6103	RPGR	ORPHA:244
HP:0002813	Abnormal limb bone morphology	85452	CFAP74	ORPHA:244
HP:0002813	Abnormal limb bone morphology	93233	ODAD1	ORPHA:244
HP:0002813	Abnormal limb bone morphology	55130	ODAD2	ORPHA:244
HP:0002813	Abnormal limb bone morphology	1767	DNAH5	ORPHA:244
HP:0002813	Abnormal limb bone morphology	83861	RSPH3	ORPHA:244
HP:0002813	Abnormal limb bone morphology	345643	MCIDAS	ORPHA:244
HP:0002813	Abnormal limb bone morphology	56683	CFAP298	ORPHA:244
HP:0002813	Abnormal limb bone morphology	79925	SPEF2	ORPHA:244
HP:0002813	Abnormal limb bone morphology	10309	CCNO	ORPHA:244
HP:0002813	Abnormal limb bone morphology	115399	LRRC56	ORPHA:244
HP:0002813	Abnormal limb bone morphology	139212	DNAAF6	ORPHA:244
HP:0002813	Abnormal limb bone morphology	123872	DNAAF1	ORPHA:244
HP:0002813	Abnormal limb bone morphology	85016	CFAP300	ORPHA:244
HP:0002813	Abnormal limb bone morphology	339829	CCDC39	ORPHA:244
HP:0002813	Abnormal limb bone morphology	8701	DNAH11	ORPHA:244
HP:0002813	Abnormal limb bone morphology	1770	DNAH9	ORPHA:244
HP:0002813	Abnormal limb bone morphology	246176	GAS2L2	ORPHA:244
HP:0002813	Abnormal limb bone morphology	26154	ABCA12	OMIM:601277
HP:0002813	Abnormal limb bone morphology	56916	SMARCAD1	OMIM:136000
HP:0002813	Abnormal limb bone morphology	1604	CD55	OMIM:226300
HP:0002813	Abnormal limb bone morphology	5567	PRKACB	OMIM:619143
HP:0002813	Abnormal limb bone morphology	7543	ZFX	OMIM:301118
HP:0002813	Abnormal limb bone morphology	10892	MALT1	OMIM:615468
HP:0002813	Abnormal limb bone morphology	7317	UBA1	ORPHA:1145
HP:0002813	Abnormal limb bone morphology	83696	TRAPPC9	OMIM:613192
HP:0002813	Abnormal limb bone morphology	1281	COL3A1	OMIM:618343
HP:0002813	Abnormal limb bone morphology	23162	MAPK8IP3	OMIM:618443
HP:0002813	Abnormal limb bone morphology	113189	CHST14	ORPHA:2953
HP:0002813	Abnormal limb bone morphology	29940	DSE	ORPHA:2953
HP:0002813	Abnormal limb bone morphology	2186	BPTF	OMIM:617755
HP:0002813	Abnormal limb bone morphology	23314	SATB2	ORPHA:251028
HP:0002813	Abnormal limb bone morphology	8239	USP9X	ORPHA:480880
HP:0002813	Abnormal limb bone morphology	84942	WDR73	OMIM:251300
HP:0002813	Abnormal limb bone morphology	1303	COL12A1	ORPHA:75840
HP:0002813	Abnormal limb bone morphology	1291	COL6A1	ORPHA:75840
HP:0002813	Abnormal limb bone morphology	1292	COL6A2	ORPHA:75840
HP:0002813	Abnormal limb bone morphology	1293	COL6A3	ORPHA:75840
HP:0002813	Abnormal limb bone morphology	10479	SLC9A6	OMIM:300243
HP:0002813	Abnormal limb bone morphology	9578	CDC42BPB	OMIM:619841
HP:0002813	Abnormal limb bone morphology	10525	HYOU1	OMIM:233600
HP:0002813	Abnormal limb bone morphology	55690	PACS1	ORPHA:329224
HP:0002813	Abnormal limb bone morphology	2783	GNB2	OMIM:619503
HP:0002813	Abnormal limb bone morphology	4548	MTR	OMIM:250940
HP:0002813	Abnormal limb bone morphology	9343	EFTUD2	OMIM:610536
HP:0002813	Abnormal limb bone morphology	7175	TPR	OMIM:620393
HP:0002813	Abnormal limb bone morphology	4810	NHS	OMIM:302350
HP:0002813	Abnormal limb bone morphology	1499	CTNNB1	OMIM:615075
HP:0002813	Abnormal limb bone morphology	9181	ARHGEF2	OMIM:617523
HP:0002813	Abnormal limb bone morphology	65260	COA7	OMIM:618387
HP:0002813	Abnormal limb bone morphology	127833	SYT2	OMIM:616040
HP:0002813	Abnormal limb bone morphology	112	ADCY6	OMIM:616287
HP:0002813	Abnormal limb bone morphology	7415	VCP	ORPHA:435387
HP:0002813	Abnormal limb bone morphology	7415	VCP	OMIM:616687
HP:0002813	Abnormal limb bone morphology	50717	DCAF8	OMIM:610100
HP:0002813	Abnormal limb bone morphology	4897	NRCAM	OMIM:619833
HP:0002813	Abnormal limb bone morphology	2617	GARS1	ORPHA:139536
HP:0002813	Abnormal limb bone morphology	2617	GARS1	OMIM:600794
HP:0002813	Abnormal limb bone morphology	2617	GARS1	OMIM:601472
HP:0002813	Abnormal limb bone morphology	65055	REEP1	ORPHA:139536
HP:0002813	Abnormal limb bone morphology	7443	VRK1	OMIM:620542
HP:0002813	Abnormal limb bone morphology	8379	MAD1L1	OMIM:620189
HP:0002813	Abnormal limb bone morphology	7879	RAB7A	OMIM:600882
HP:0002813	Abnormal limb bone morphology	5375	PMP2	OMIM:618279
HP:0002813	Abnormal limb bone morphology	23095	KIF1B	OMIM:118210
HP:0002813	Abnormal limb bone morphology	8566	PDXK	OMIM:618511
HP:0002813	Abnormal limb bone morphology	400916	CHCHD10	OMIM:615048
HP:0002813	Abnormal limb bone morphology	3035	HARS1	ORPHA:488333
HP:0002813	Abnormal limb bone morphology	3035	HARS1	OMIM:616625
HP:0002813	Abnormal limb bone morphology	90678	LRSAM1	OMIM:614436
HP:0002813	Abnormal limb bone morphology	11261	CHP1	OMIM:618438
HP:0002813	Abnormal limb bone morphology	3710	ITPR3	OMIM:620111
HP:0002813	Abnormal limb bone morphology	10280	SIGMAR1	OMIM:605726
HP:0002813	Abnormal limb bone morphology	5264	PHYH	ORPHA:773
HP:0002813	Abnormal limb bone morphology	4358	MPV17	OMIM:618400
HP:0002813	Abnormal limb bone morphology	4358	MPV17	OMIM:256810
HP:0002813	Abnormal limb bone morphology	57449	PLEKHG5	OMIM:615376
HP:0002813	Abnormal limb bone morphology	79628	SH3TC2	OMIM:601596
HP:0002813	Abnormal limb bone morphology	79628	SH3TC2	ORPHA:99949
HP:0002813	Abnormal limb bone morphology	59345	GNB4	OMIM:615185
HP:0002813	Abnormal limb bone morphology	64423	INF2	OMIM:614455
HP:0002813	Abnormal limb bone morphology	23443	SLC35A3	ORPHA:370943
HP:0002813	Abnormal limb bone morphology	168667	BMPER	OMIM:608022
HP:0002813	Abnormal limb bone morphology	8729	GBF1	OMIM:606483
HP:0002813	Abnormal limb bone morphology	341640	FREM2	ORPHA:2052
HP:0002813	Abnormal limb bone morphology	80144	FRAS1	ORPHA:2052
HP:0002813	Abnormal limb bone morphology	23426	GRIP1	ORPHA:2052
HP:0002813	Abnormal limb bone morphology	6309	SC5D	ORPHA:46059
HP:0002813	Abnormal limb bone morphology	9759	HDAC4	ORPHA:1001
HP:0002813	Abnormal limb bone morphology	117581	TWIST2	OMIM:200110
HP:0002813	Abnormal limb bone morphology	117581	TWIST2	ORPHA:920
HP:0002813	Abnormal limb bone morphology	3020	H3-3A	OMIM:619720
HP:0002813	Abnormal limb bone morphology	9790	BMS1	ORPHA:1114
HP:0002813	Abnormal limb bone morphology	5339	PLEC	ORPHA:1114
HP:0002813	Abnormal limb bone morphology	3691	ITGB4	ORPHA:1114
HP:0002813	Abnormal limb bone morphology	2314	FLII	ORPHA:819
HP:0002813	Abnormal limb bone morphology	23096	IQSEC2	ORPHA:819
HP:0002813	Abnormal limb bone morphology	23096	IQSEC2	ORPHA:217377
HP:0002813	Abnormal limb bone morphology	10743	RAI1	ORPHA:819
HP:0002813	Abnormal limb bone morphology	10522	DEAF1	ORPHA:819
HP:0002813	Abnormal limb bone morphology	5818	NECTIN1	ORPHA:3253
HP:0002813	Abnormal limb bone morphology	7021	TFAP2B	ORPHA:46627
HP:0002813	Abnormal limb bone morphology	2019	EN1	OMIM:619218
HP:0002813	Abnormal limb bone morphology	3759	KCNJ2	OMIM:170390
HP:0002813	Abnormal limb bone morphology	4929	NR4A2	ORPHA:1617
HP:0002813	Abnormal limb bone morphology	10716	TBR1	ORPHA:1617
HP:0002813	Abnormal limb bone morphology	2313	FLI1	ORPHA:2308
HP:0002813	Abnormal limb bone morphology	54888	NSUN2	ORPHA:235
HP:0002813	Abnormal limb bone morphology	1947	EFNB1	OMIM:304110
HP:0002813	Abnormal limb bone morphology	4613	MYCN	ORPHA:391641
HP:0002813	Abnormal limb bone morphology	4613	MYCN	OMIM:620748
HP:0002813	Abnormal limb bone morphology	84265	POLR3GL	OMIM:619234
HP:0002813	Abnormal limb bone morphology	92002	CCNQ	OMIM:300707
HP:0002813	Abnormal limb bone morphology	92002	CCNQ	ORPHA:140952
HP:0002813	Abnormal limb bone morphology	91754	NEK9	ORPHA:64754
HP:0002813	Abnormal limb bone morphology	79005	SCNM1	OMIM:620107
HP:0002813	Abnormal limb bone morphology	6608	SMO	OMIM:241800
HP:0002813	Abnormal limb bone morphology	6608	SMO	ORPHA:1553
HP:0002813	Abnormal limb bone morphology	6134	RPL10	ORPHA:459070
HP:0002813	Abnormal limb bone morphology	51633	OTUD6B	ORPHA:505237
HP:0002813	Abnormal limb bone morphology	28957	MRPS28	OMIM:618958
HP:0002813	Abnormal limb bone morphology	8450	CUL4B	ORPHA:85293
HP:0002813	Abnormal limb bone morphology	6299	SALL1	ORPHA:857
HP:0002813	Abnormal limb bone morphology	51339	DACT1	ORPHA:857
HP:0002813	Abnormal limb bone morphology	407975	MIR17HG	ORPHA:391646
HP:0002813	Abnormal limb bone morphology	2767	GNA11	ORPHA:1556
HP:0002813	Abnormal limb bone morphology	151188	ARL6IP6	ORPHA:1556
HP:0002813	Abnormal limb bone morphology	4208	MEF2C	ORPHA:228384
HP:0002813	Abnormal limb bone morphology	2719	GPC3	ORPHA:373
HP:0002813	Abnormal limb bone morphology	4087	SMAD2	OMIM:619657
HP:0002813	Abnormal limb bone morphology	50945	TBX22	ORPHA:921
HP:0002813	Abnormal limb bone morphology	29968	PSAT1	OMIM:616038
HP:0002813	Abnormal limb bone morphology	10664	CTCF	OMIM:615502
HP:0002813	Abnormal limb bone morphology	26235	FBXL4	OMIM:615471
HP:0002813	Abnormal limb bone morphology	124997	WDR81	OMIM:610185
HP:0002813	Abnormal limb bone morphology	22854	NTNG1	ORPHA:3095
HP:0002813	Abnormal limb bone morphology	9568	GABBR2	ORPHA:3095
HP:0002813	Abnormal limb bone morphology	9568	GABBR2	OMIM:617903
HP:0002813	Abnormal limb bone morphology	4948	OCA2	ORPHA:177904
HP:0002813	Abnormal limb bone morphology	4948	OCA2	ORPHA:177901
HP:0002813	Abnormal limb bone morphology	4948	OCA2	ORPHA:98754
HP:0002813	Abnormal limb bone morphology	1778	DYNC1H1	OMIM:614563
HP:0002813	Abnormal limb bone morphology	3064	HTT	OMIM:617435
HP:0002813	Abnormal limb bone morphology	6045	RNF2	OMIM:619460
HP:0002813	Abnormal limb bone morphology	9719	ADAMTSL2	OMIM:231050
HP:0002813	Abnormal limb bone morphology	3800	KIF5C	OMIM:615282
HP:0002813	Abnormal limb bone morphology	2332	FMR1	ORPHA:261483
HP:0002813	Abnormal limb bone morphology	9130	FAM50A	OMIM:300261
HP:0002813	Abnormal limb bone morphology	25942	SIN3A	ORPHA:94065
HP:0002813	Abnormal limb bone morphology	11284	PNKP	ORPHA:459033
HP:0002813	Abnormal limb bone morphology	165	AEBP1	ORPHA:536532
HP:0002813	Abnormal limb bone morphology	1859	DYRK1A	ORPHA:268261
HP:0002813	Abnormal limb bone morphology	6567	SLC16A2	OMIM:300523
HP:0002813	Abnormal limb bone morphology	57466	SCAF4	OMIM:620511
HP:0002813	Abnormal limb bone morphology	51684	SUFU	ORPHA:475
HP:0002813	Abnormal limb bone morphology	54806	AHI1	ORPHA:475
HP:0002813	Abnormal limb bone morphology	54806	AHI1	ORPHA:220493
HP:0002813	Abnormal limb bone morphology	200894	ARL13B	ORPHA:475
HP:0002813	Abnormal limb bone morphology	9731	CEP104	ORPHA:475
HP:0002813	Abnormal limb bone morphology	219844	HYLS1	ORPHA:475
HP:0002813	Abnormal limb bone morphology	23247	KATNIP	ORPHA:475
HP:0002813	Abnormal limb bone morphology	219854	TMEM218	ORPHA:475
HP:0002813	Abnormal limb bone morphology	95681	CEP41	ORPHA:475
HP:0002813	Abnormal limb bone morphology	95681	CEP41	ORPHA:220493
HP:0002813	Abnormal limb bone morphology	23116	TOGARAM1	ORPHA:475
HP:0002813	Abnormal limb bone morphology	25776	CBY1	ORPHA:475
HP:0002813	Abnormal limb bone morphology	403	ARL3	ORPHA:475
HP:0002813	Abnormal limb bone morphology	5590	PRKCZ	ORPHA:1606
HP:0002813	Abnormal limb bone morphology	2563	GABRD	ORPHA:1606
HP:0002813	Abnormal limb bone morphology	23013	SPEN	ORPHA:1606
HP:0002813	Abnormal limb bone morphology	8510	MMP23B	ORPHA:1606
HP:0002813	Abnormal limb bone morphology	7798	LUZP1	ORPHA:1606
HP:0002813	Abnormal limb bone morphology	10630	PDPN	ORPHA:1606
HP:0002813	Abnormal limb bone morphology	10277	UBE4B	ORPHA:1606
HP:0002813	Abnormal limb bone morphology	8514	KCNAB2	ORPHA:1606
HP:0002813	Abnormal limb bone morphology	63976	PRDM16	ORPHA:1606
HP:0002813	Abnormal limb bone morphology	54897	CASZ1	ORPHA:1606
HP:0002813	Abnormal limb bone morphology	1312	COMT	ORPHA:567
HP:0002813	Abnormal limb bone morphology	221037	JMJD1C	ORPHA:567
HP:0002813	Abnormal limb bone morphology	2812	GP1BB	ORPHA:567
HP:0002813	Abnormal limb bone morphology	6239	RREB1	ORPHA:567
HP:0002813	Abnormal limb bone morphology	7290	HIRA	ORPHA:567
HP:0002813	Abnormal limb bone morphology	9632	SEC24C	ORPHA:567
HP:0002813	Abnormal limb bone morphology	7353	UFD1	ORPHA:567
HP:0002813	Abnormal limb bone morphology	421	ARVCF	ORPHA:567
HP:0002813	Abnormal limb bone morphology	23090	ZNF423	ORPHA:2318
HP:0002813	Abnormal limb bone morphology	5566	PRKACA	ORPHA:289
HP:0002813	Abnormal limb bone morphology	2735	GLI1	ORPHA:289
HP:0002813	Abnormal limb bone morphology	2121	EVC	ORPHA:289
HP:0002813	Abnormal limb bone morphology	132884	EVC2	ORPHA:289
HP:0002813	Abnormal limb bone morphology	220296	HEPACAM	ORPHA:210548
HP:0002813	Abnormal limb bone morphology	27031	NPHP3	OMIM:267010
HP:0002813	Abnormal limb bone morphology	59344	ALOXE3	OMIM:242100
HP:0002813	Abnormal limb bone morphology	242	ALOX12B	OMIM:242100
HP:0002813	Abnormal limb bone morphology	79718	TBL1XR1	OMIM:602342
HP:0002813	Abnormal limb bone morphology	79718	TBL1XR1	ORPHA:487825
HP:0002813	Abnormal limb bone morphology	427	ASAH1	ORPHA:333
HP:0002813	Abnormal limb bone morphology	3039	HBA1	ORPHA:98791
HP:0002813	Abnormal limb bone morphology	3040	HBA2	ORPHA:98791
HP:0002813	Abnormal limb bone morphology	23483	TGDS	OMIM:616145
HP:0002813	Abnormal limb bone morphology	9509	ADAMTS2	OMIM:225410
HP:0002813	Abnormal limb bone morphology	375056	MIA3	OMIM:619269
HP:0002813	Abnormal limb bone morphology	6775	STAT4	ORPHA:85408
HP:0002813	Abnormal limb bone morphology	3560	IL2RB	ORPHA:85408
HP:0002813	Abnormal limb bone morphology	79722	ANKRD55	ORPHA:85408
HP:0002813	Abnormal limb bone morphology	26191	PTPN22	ORPHA:85408
HP:0002813	Abnormal limb bone morphology	919	CD247	ORPHA:85408
HP:0002813	Abnormal limb bone morphology	3559	IL2RA	ORPHA:85408
HP:0002813	Abnormal limb bone morphology	5771	PTPN2	ORPHA:85408
HP:0002813	Abnormal limb bone morphology	7750	ZMYM2	OMIM:619522
HP:0002813	Abnormal limb bone morphology	23265	EXOC7	OMIM:619072
HP:0002813	Abnormal limb bone morphology	4593	MUSK	OMIM:208150
HP:0002813	Abnormal limb bone morphology	7486	WRN	ORPHA:902
HP:0002813	Abnormal limb bone morphology	4927	NUP88	OMIM:618393
HP:0002813	Abnormal limb bone morphology	2073	ERCC5	OMIM:616570
HP:0002813	Abnormal limb bone morphology	113179	ADAT3	ORPHA:363528
HP:0002813	Abnormal limb bone morphology	9928	KIF14	OMIM:616258
HP:0002813	Abnormal limb bone morphology	2733	GLE1	OMIM:611890
HP:0002813	Abnormal limb bone morphology	55681	SCYL2	ORPHA:1143
HP:0002813	Abnormal limb bone morphology	55681	SCYL2	OMIM:618766
HP:0002813	Abnormal limb bone morphology	57222	ERGIC1	ORPHA:1143
HP:0002813	Abnormal limb bone morphology	91647	ATPAF2	OMIM:604273
HP:0002813	Abnormal limb bone morphology	5828	PEX2	OMIM:614866
HP:0002813	Abnormal limb bone morphology	26137	ZBTB20	OMIM:259050
HP:0002813	Abnormal limb bone morphology	1718	DHCR24	ORPHA:35107
HP:0002813	Abnormal limb bone morphology	89910	UBE3B	OMIM:244450
HP:0002813	Abnormal limb bone morphology	5189	PEX1	OMIM:214100
HP:0002813	Abnormal limb bone morphology	4626	MYH8	OMIM:158300
HP:0002813	Abnormal limb bone morphology	259232	NALCN	OMIM:616266
HP:0002813	Abnormal limb bone morphology	10381	TUBB3	ORPHA:300570
HP:0002813	Abnormal limb bone morphology	7136	TNNI2	OMIM:601680
HP:0002813	Abnormal limb bone morphology	4233	MET	OMIM:620019
HP:0002813	Abnormal limb bone morphology	118987	PDZD8	OMIM:620021
HP:0002813	Abnormal limb bone morphology	79228	THOC6	ORPHA:363444
HP:0002813	Abnormal limb bone morphology	6647	SOD1	OMIM:618598
HP:0002813	Abnormal limb bone morphology	6536	SLC6A9	OMIM:617301
HP:0002813	Abnormal limb bone morphology	54916	TMEM260	OMIM:617478
HP:0002813	Abnormal limb bone morphology	26100	WIPI2	OMIM:618453
HP:0002813	Abnormal limb bone morphology	26173	INTS1	OMIM:618571
HP:0002813	Abnormal limb bone morphology	55656	INTS8	OMIM:618572
HP:0002813	Abnormal limb bone morphology	529	ATP6V1E1	OMIM:617402
HP:0002813	Abnormal limb bone morphology	84148	KAT8	OMIM:618974
HP:0002813	Abnormal limb bone morphology	3236	HOXD10	OMIM:192950
HP:0002813	Abnormal limb bone morphology	10159	ATP6AP2	ORPHA:93952
HP:0002813	Abnormal limb bone morphology	8294	H4C9	OMIM:619951
HP:0002813	Abnormal limb bone morphology	4683	NBN	OMIM:251260
HP:0002813	Abnormal limb bone morphology	8425	LTBP4	OMIM:613177
HP:0002813	Abnormal limb bone morphology	55777	MBD5	ORPHA:228402
HP:0002813	Abnormal limb bone morphology	55777	MBD5	OMIM:156200
HP:0002813	Abnormal limb bone morphology	6840	SVIL	OMIM:619040
HP:0002813	Abnormal limb bone morphology	1349	COX7B	OMIM:300887
HP:0002813	Abnormal limb bone morphology	55209	SETD5	OMIM:615761
HP:0002813	Abnormal limb bone morphology	23291	FBXW11	OMIM:618914
HP:0002813	Abnormal limb bone morphology	28960	DCPS	OMIM:616459
HP:0002813	Abnormal limb bone morphology	2590	GALNT2	OMIM:618885
HP:0002813	Abnormal limb bone morphology	26040	SETBP1	OMIM:616078
HP:0002813	Abnormal limb bone morphology	25	ABL1	OMIM:617602
HP:0002813	Abnormal limb bone morphology	6304	SATB1	OMIM:619229
HP:0002813	Abnormal limb bone morphology	11193	WBP4	OMIM:620852
HP:0002813	Abnormal limb bone morphology	55027	HEATR3	OMIM:620072
HP:0002813	Abnormal limb bone morphology	7204	TRIO	OMIM:617061
HP:0002813	Abnormal limb bone morphology	10651	MTX2	OMIM:619127
HP:0002813	Abnormal limb bone morphology	6942	TCF20	OMIM:618430
HP:0002813	Abnormal limb bone morphology	50515	CHST11	OMIM:618167
HP:0002813	Abnormal limb bone morphology	4123	MAN2C1	OMIM:619775
HP:0002813	Abnormal limb bone morphology	6603	SMARCD2	OMIM:617475
HP:0002813	Abnormal limb bone morphology	650	BMP2	OMIM:617877
HP:0002813	Abnormal limb bone morphology	7994	KAT6A	OMIM:616268
HP:0002813	Abnormal limb bone morphology	5932	RBBP8	ORPHA:808
HP:0002813	Abnormal limb bone morphology	79902	NUP85	ORPHA:808
HP:0002813	Abnormal limb bone morphology	84126	ATRIP	ORPHA:808
HP:0002813	Abnormal limb bone morphology	10293	TRAIP	ORPHA:808
HP:0002813	Abnormal limb bone morphology	22995	CEP152	ORPHA:808
HP:0002813	Abnormal limb bone morphology	10733	PLK4	ORPHA:808
HP:0002813	Abnormal limb bone morphology	8813	DPM1	ORPHA:79322
HP:0002813	Abnormal limb bone morphology	51053	GMNN	OMIM:616835
HP:0002813	Abnormal limb bone morphology	55081	IFT57	OMIM:617927
HP:0002813	Abnormal limb bone morphology	55012	PPP2R3C	OMIM:618419
HP:0002813	Abnormal limb bone morphology	490	ATP2B1	OMIM:619910
HP:0002813	Abnormal limb bone morphology	6874	TAF4	OMIM:620450
HP:0002813	Abnormal limb bone morphology	5283	PIGH	OMIM:618010
HP:0002813	Abnormal limb bone morphology	6049	RNF6	ORPHA:99977
HP:0002813	Abnormal limb bone morphology	51741	WWOX	ORPHA:99977
HP:0002813	Abnormal limb bone morphology	9940	DLEC1	ORPHA:99977
HP:0002813	Abnormal limb bone morphology	118924	FRA10AC1	OMIM:620113
HP:0002813	Abnormal limb bone morphology	1327	COX4I1	OMIM:619060
HP:0002813	Abnormal limb bone morphology	2643	GCH1	ORPHA:98808
HP:0002813	Abnormal limb bone morphology	3615	IMPDH2	ORPHA:98808
HP:0002813	Abnormal limb bone morphology	3315	HSPB1	OMIM:608634
HP:0002813	Abnormal limb bone morphology	26353	HSPB8	OMIM:158590
HP:0002813	Abnormal limb bone morphology	9927	MFN2	ORPHA:99947
HP:0002813	Abnormal limb bone morphology	2517	FUCA1	OMIM:230000
HP:0002813	Abnormal limb bone morphology	2137	EXTL3	ORPHA:508533
HP:0002813	Abnormal limb bone morphology	1001	CDH3	ORPHA:1573
HP:0002813	Abnormal limb bone morphology	10195	ALG3	ORPHA:79321
HP:0002813	Abnormal limb bone morphology	392255	GDF6	OMIM:118100
HP:0002813	Abnormal limb bone morphology	4054	LTBP3	ORPHA:969
HP:0002813	Abnormal limb bone morphology	10459	MAD2L2	ORPHA:84
HP:0002813	Abnormal limb bone morphology	7516	XRCC2	ORPHA:84
HP:0002813	Abnormal limb bone morphology	29089	UBE2T	ORPHA:84
HP:0002813	Abnormal limb bone morphology	675	BRCA2	ORPHA:84
HP:0002813	Abnormal limb bone morphology	55120	FANCL	ORPHA:84
HP:0002813	Abnormal limb bone morphology	2177	FANCD2	ORPHA:84
HP:0002813	Abnormal limb bone morphology	2175	FANCA	ORPHA:84
HP:0002813	Abnormal limb bone morphology	2187	FANCB	ORPHA:84
HP:0002813	Abnormal limb bone morphology	2176	FANCC	ORPHA:84
HP:0002813	Abnormal limb bone morphology	2178	FANCE	ORPHA:84
HP:0002813	Abnormal limb bone morphology	2188	FANCF	ORPHA:84
HP:0002813	Abnormal limb bone morphology	2189	FANCG	ORPHA:84
HP:0002813	Abnormal limb bone morphology	5888	RAD51	ORPHA:84
HP:0002813	Abnormal limb bone morphology	5889	RAD51C	ORPHA:84
HP:0002813	Abnormal limb bone morphology	83990	BRIP1	ORPHA:84
HP:0002813	Abnormal limb bone morphology	57697	FANCM	ORPHA:84
HP:0002813	Abnormal limb bone morphology	79728	PALB2	ORPHA:84
HP:0002813	Abnormal limb bone morphology	84464	SLX4	ORPHA:84
HP:0002813	Abnormal limb bone morphology	2072	ERCC4	ORPHA:84
HP:0002813	Abnormal limb bone morphology	55215	FANCI	ORPHA:84
HP:0002813	Abnormal limb bone morphology	2717	GLA	ORPHA:324
HP:0002813	Abnormal limb bone morphology	875	CBS	ORPHA:394
HP:0002813	Abnormal limb bone morphology	51256	TBC1D7	OMIM:248000
HP:0002813	Abnormal limb bone morphology	2972	BRF1	OMIM:616202
HP:0002813	Abnormal limb bone morphology	7360	UGP2	OMIM:618744
HP:0002813	Abnormal limb bone morphology	10992	SF3B2	OMIM:164210
HP:0002813	Abnormal limb bone morphology	58	ACTA1	ORPHA:171436
HP:0002813	Abnormal limb bone morphology	4703	NEB	ORPHA:171436
HP:0002813	Abnormal limb bone morphology	10324	KLHL41	ORPHA:171436
HP:0002813	Abnormal limb bone morphology	56203	LMOD3	ORPHA:171436
HP:0002813	Abnormal limb bone morphology	1073	CFL2	ORPHA:171436
HP:0002813	Abnormal limb bone morphology	815	CAMK2A	OMIM:617798
HP:0002813	Abnormal limb bone morphology	83480	PUS3	ORPHA:488627
HP:0002813	Abnormal limb bone morphology	1588	CYP19A1	ORPHA:91
HP:0002813	Abnormal limb bone morphology	6804	STX1A	ORPHA:904
HP:0002813	Abnormal limb bone morphology	7461	CLIP2	ORPHA:904
HP:0002813	Abnormal limb bone morphology	84277	DNAJC30	ORPHA:904
HP:0002813	Abnormal limb bone morphology	8468	FKBP6	ORPHA:904
HP:0002813	Abnormal limb bone morphology	5982	RFC2	ORPHA:904
HP:0002813	Abnormal limb bone morphology	2969	GTF2I	ORPHA:904
HP:0002813	Abnormal limb bone morphology	3984	LIMK1	ORPHA:904
HP:0002813	Abnormal limb bone morphology	9569	GTF2IRD1	ORPHA:904
HP:0002813	Abnormal limb bone morphology	155382	VPS37D	ORPHA:904
HP:0002813	Abnormal limb bone morphology	155368	METTL27	ORPHA:904
HP:0002813	Abnormal limb bone morphology	114049	BUD23	ORPHA:904
HP:0002813	Abnormal limb bone morphology	7458	EIF4H	ORPHA:904
HP:0002813	Abnormal limb bone morphology	84163	GTF2IRD2	ORPHA:904
HP:0002813	Abnormal limb bone morphology	26608	TBL2	ORPHA:904
HP:0002813	Abnormal limb bone morphology	653361	NCF1	ORPHA:904
HP:0002813	Abnormal limb bone morphology	135886	TMEM270	ORPHA:904
HP:0002813	Abnormal limb bone morphology	9031	BAZ1B	ORPHA:904
HP:0002813	Abnormal limb bone morphology	2006	ELN	ORPHA:904
HP:0002813	Abnormal limb bone morphology	9394	HS6ST1	OMIM:614880
HP:0002813	Abnormal limb bone morphology	79903	NAA60	OMIM:620786
HP:0002813	Abnormal limb bone morphology	8882	ZPR1	OMIM:619321
HP:0002813	Abnormal limb bone morphology	137682	NDUFAF6	OMIM:618913
HP:0002813	Abnormal limb bone morphology	153642	ARSK	OMIM:619698
HP:0002813	Abnormal limb bone morphology	84068	SLC10A7	OMIM:618363
HP:0002813	Abnormal limb bone morphology	11145	PLAAT3	OMIM:620683
HP:0002813	Abnormal limb bone morphology	6711	SPTBN1	OMIM:619475
HP:0002813	Abnormal limb bone morphology	80152	CENPT	OMIM:618702
HP:0002813	Abnormal limb bone morphology	5184	PEPD	ORPHA:742
HP:0002813	Abnormal limb bone morphology	8139	GAN	ORPHA:643
HP:0002813	Abnormal limb bone morphology	284403	WDR62	OMIM:604317
HP:0002813	Abnormal limb bone morphology	9675	TTI1	OMIM:620445
HP:0002813	Abnormal limb bone morphology	5442	POLRMT	OMIM:619743
HP:0002813	Abnormal limb bone morphology	4091	SMAD6	OMIM:179300
HP:0002813	Abnormal limb bone morphology	78989	COLEC11	OMIM:265050
HP:0002813	Abnormal limb bone morphology	78989	COLEC11	ORPHA:293843
HP:0002813	Abnormal limb bone morphology	8074	FGF23	ORPHA:89937
HP:0002813	Abnormal limb bone morphology	9060	PAPSS2	OMIM:612847
HP:0002813	Abnormal limb bone morphology	5176	SERPINF1	OMIM:613982
HP:0002813	Abnormal limb bone morphology	9158	FIBP	OMIM:617107
HP:0002813	Abnormal limb bone morphology	23187	PHLDB1	OMIM:620639
HP:0002813	Abnormal limb bone morphology	10686	CLDN16	OMIM:248250
HP:0002813	Abnormal limb bone morphology	1962	EHHADH	OMIM:615605
HP:0002813	Abnormal limb bone morphology	6569	SLC34A1	ORPHA:157215
HP:0002813	Abnormal limb bone morphology	11014	KDELR2	OMIM:619131
HP:0002813	Abnormal limb bone morphology	91179	SCARF2	OMIM:600920
HP:0002813	Abnormal limb bone morphology	3911	LAMA5	OMIM:620076
HP:0002813	Abnormal limb bone morphology	64175	P3H1	OMIM:610915
HP:0002813	Abnormal limb bone morphology	25885	POLR1A	OMIM:616462
HP:0002813	Abnormal limb bone morphology	284086	NEK8	OMIM:615415
HP:0002813	Abnormal limb bone morphology	92344	GORAB	OMIM:231070
HP:0002813	Abnormal limb bone morphology	166929	SGMS2	OMIM:126550
HP:0002813	Abnormal limb bone morphology	55151	TMEM38B	OMIM:615066
HP:0002813	Abnormal limb bone morphology	649	BMP1	OMIM:614856
HP:0002813	Abnormal limb bone morphology	1758	DMP1	ORPHA:289176
HP:0002813	Abnormal limb bone morphology	5167	ENPP1	ORPHA:289176
HP:0002813	Abnormal limb bone morphology	8218	CLTCL1	ORPHA:453510
HP:0002813	Abnormal limb bone morphology	567	B2M	OMIM:241600
HP:0002813	Abnormal limb bone morphology	6469	SHH	ORPHA:988
HP:0002813	Abnormal limb bone morphology	60	ACTB	ORPHA:64755
HP:0002813	Abnormal limb bone morphology	1763	DNA2	OMIM:620819
HP:0002813	Abnormal limb bone morphology	145258	GSC	OMIM:602471
HP:0002813	Abnormal limb bone morphology	25839	COG4	OMIM:618150
HP:0002813	Abnormal limb bone morphology	202018	TAPT1	OMIM:616897
HP:0002813	Abnormal limb bone morphology	8312	AXIN1	OMIM:620558
HP:0002813	Abnormal limb bone morphology	2067	ERCC1	OMIM:610758
HP:0002813	Abnormal limb bone morphology	5191	PEX7	OMIM:215100
HP:0002813	Abnormal limb bone morphology	28962	OSTM1	OMIM:259720
HP:0002813	Abnormal limb bone morphology	8726	EED	OMIM:617561
HP:0002813	Abnormal limb bone morphology	1311	COMP	ORPHA:750
HP:0002813	Abnormal limb bone morphology	1311	COMP	OMIM:177170
HP:0002813	Abnormal limb bone morphology	1497	CTNS	OMIM:219800
HP:0002813	Abnormal limb bone morphology	9131	AIFM1	OMIM:300232
HP:0002813	Abnormal limb bone morphology	286053	NSMCE2	OMIM:617253
HP:0002813	Abnormal limb bone morphology	1300	COL10A1	OMIM:156500
HP:0002813	Abnormal limb bone morphology	6424	SFRP4	OMIM:265900
HP:0002813	Abnormal limb bone morphology	8838	CCN6	OMIM:208230
HP:0002813	Abnormal limb bone morphology	2588	GALNS	OMIM:253000
HP:0002813	Abnormal limb bone morphology	65992	DDRGK1	ORPHA:93352
HP:0002813	Abnormal limb bone morphology	4796	TONSL	ORPHA:93357
HP:0002813	Abnormal limb bone morphology	4796	TONSL	OMIM:271510
HP:0002813	Abnormal limb bone morphology	411	ARSB	OMIM:253200
HP:0002813	Abnormal limb bone morphology	4148	MATN3	OMIM:608728
HP:0002813	Abnormal limb bone morphology	6729	SRP54	OMIM:260400
HP:0002813	Abnormal limb bone morphology	51119	SBDS	OMIM:260400
HP:0002813	Abnormal limb bone morphology	51119	SBDS	ORPHA:811
HP:0002813	Abnormal limb bone morphology	134218	DNAJC21	OMIM:260400
HP:0002813	Abnormal limb bone morphology	134218	DNAJC21	ORPHA:811
HP:0002813	Abnormal limb bone morphology	79631	EFL1	OMIM:617941
HP:0002813	Abnormal limb bone morphology	79631	EFL1	ORPHA:811
HP:0002813	Abnormal limb bone morphology	65082	VPS33A	OMIM:617303
HP:0002813	Abnormal limb bone morphology	79158	GNPTAB	OMIM:252500
HP:0002813	Abnormal limb bone morphology	176	ACAN	OMIM:612813
HP:0002813	Abnormal limb bone morphology	54808	DYM	OMIM:223800
HP:0002813	Abnormal limb bone morphology	90	ACVR1	OMIM:135100
HP:0002813	Abnormal limb bone morphology	54	ACP5	OMIM:607944
HP:0002813	Abnormal limb bone morphology	5331	PLCB3	OMIM:618961
HP:0002813	Abnormal limb bone morphology	4313	MMP2	OMIM:259600
HP:0002813	Abnormal limb bone morphology	372	ARCN1	OMIM:617164
HP:0002813	Abnormal limb bone morphology	79796	ALG9	OMIM:263210
HP:0002813	Abnormal limb bone morphology	1576	CYP3A4	OMIM:619073
HP:0002813	Abnormal limb bone morphology	249	ALPL	OMIM:241500
HP:0002813	Abnormal limb bone morphology	10013	HDAC6	OMIM:300863
HP:0002813	Abnormal limb bone morphology	51025	PAM16	OMIM:613320
HP:0002813	Abnormal limb bone morphology	25871	NEPRO	OMIM:618853
HP:0002813	Abnormal limb bone morphology	5830	PEX5	OMIM:616716
HP:0002813	Abnormal limb bone morphology	2879	GPX4	OMIM:250220
HP:0002813	Abnormal limb bone morphology	2335	FN1	OMIM:184255
HP:0002813	Abnormal limb bone morphology	2335	FN1	ORPHA:93315
HP:0002813	Abnormal limb bone morphology	3835	KIF22	ORPHA:93360
HP:0002813	Abnormal limb bone morphology	3835	KIF22	OMIM:603546
HP:0002813	Abnormal limb bone morphology	1184	CLCN5	OMIM:300554
HP:0002813	Abnormal limb bone morphology	1184	CLCN5	OMIM:300009
HP:0002813	Abnormal limb bone morphology	142680	SLC34A3	OMIM:241530
HP:0002813	Abnormal limb bone morphology	579	NKX3-2	OMIM:613330
HP:0002813	Abnormal limb bone morphology	55699	IARS2	OMIM:616007
HP:0002813	Abnormal limb bone morphology	10973	ASCC3	OMIM:620700
HP:0002813	Abnormal limb bone morphology	5593	PRKG2	OMIM:619636
HP:0002813	Abnormal limb bone morphology	54870	QRICH1	OMIM:617982
HP:0002813	Abnormal limb bone morphology	23233	EXOC6B	OMIM:618395
HP:0002813	Abnormal limb bone morphology	4750	NEK1	OMIM:252100
HP:0002813	Abnormal limb bone morphology	23387	SIK3	OMIM:618162
HP:0002813	Abnormal limb bone morphology	9663	LPIN2	ORPHA:77297
HP:0002813	Abnormal limb bone morphology	26503	SLC17A5	OMIM:269920
HP:0002813	Abnormal limb bone morphology	54187	NANS	OMIM:610442
HP:0002813	Abnormal limb bone morphology	83452	RAB33B	OMIM:615222
HP:0002813	Abnormal limb bone morphology	1436	CSF1R	OMIM:618476
HP:0002813	Abnormal limb bone morphology	2778	GNAS	ORPHA:94089
HP:0002813	Abnormal limb bone morphology	8675	STX16	ORPHA:94089
HP:0002813	Abnormal limb bone morphology	760	CA2	OMIM:259730
HP:0002813	Abnormal limb bone morphology	50964	SOST	OMIM:122860
HP:0002813	Abnormal limb bone morphology	9469	CHST3	OMIM:245600
HP:0002813	Abnormal limb bone morphology	26229	B3GAT3	OMIM:245600
HP:0002813	Abnormal limb bone morphology	6137	RPL13	OMIM:618728
HP:0002813	Abnormal limb bone morphology	6399	TRAPPC2	ORPHA:93284
HP:0002813	Abnormal limb bone morphology	55148	UBR7	OMIM:619189
HP:0002813	Abnormal limb bone morphology	6812	STXBP1	ORPHA:495818
HP:0002813	Abnormal limb bone morphology	64841	GNPNAT1	OMIM:619598
HP:0002813	Abnormal limb bone morphology	1317	SLC31A1	OMIM:620306
HP:0002813	Abnormal limb bone morphology	8540	AGPS	OMIM:600121
HP:0002813	Abnormal limb bone morphology	1594	CYP27B1	OMIM:264700
HP:0002813	Abnormal limb bone morphology	1594	CYP27B1	ORPHA:289157
HP:0002813	Abnormal limb bone morphology	120227	CYP2R1	ORPHA:289157
HP:0002813	Abnormal limb bone morphology	50485	SMARCAL1	ORPHA:1830
HP:0002813	Abnormal limb bone morphology	755	CFAP410	OMIM:602271
HP:0002813	Abnormal limb bone morphology	26175	LYSET	OMIM:619345
HP:0002813	Abnormal limb bone morphology	1297	COL9A1	ORPHA:166002
HP:0002813	Abnormal limb bone morphology	1298	COL9A2	ORPHA:166002
HP:0002813	Abnormal limb bone morphology	1299	COL9A3	ORPHA:166002
HP:0002813	Abnormal limb bone morphology	4692	NDN	ORPHA:177910
HP:0002813	Abnormal limb bone morphology	83550	GPR101	ORPHA:963
HP:0002813	Abnormal limb bone morphology	9049	AIP	ORPHA:963
HP:0002813	Abnormal limb bone morphology	51126	NAA20	OMIM:619717
HP:0002813	Abnormal limb bone morphology	197131	UBR1	OMIM:243800
HP:0002813	Abnormal limb bone morphology	4286	MITF	OMIM:617306
HP:0002813	Abnormal limb bone morphology	10606	PAICS	OMIM:619859
HP:0002813	Abnormal limb bone morphology	85301	COL27A1	OMIM:615155
HP:0002813	Abnormal limb bone morphology	57680	CHD8	OMIM:615032
HP:0002813	Abnormal limb bone morphology	5048	PAFAH1B1	ORPHA:217385
HP:0002813	Abnormal limb bone morphology	5048	PAFAH1B1	ORPHA:531
HP:0002813	Abnormal limb bone morphology	7531	YWHAE	ORPHA:217385
HP:0002813	Abnormal limb bone morphology	7531	YWHAE	ORPHA:531
HP:0002813	Abnormal limb bone morphology	2550	GABBR1	OMIM:620502
HP:0002813	Abnormal limb bone morphology	10533	ATG7	OMIM:619422
HP:0002813	Abnormal limb bone morphology	8295	TRRAP	OMIM:618454
HP:0002813	Abnormal limb bone morphology	170689	ADAMTS15	OMIM:620545
HP:0002813	Abnormal limb bone morphology	23030	KDM4B	OMIM:619320
HP:0002813	Abnormal limb bone morphology	1725	DHPS	OMIM:618480
HP:0002813	Abnormal limb bone morphology	3090	HIC1	ORPHA:531
HP:0002813	Abnormal limb bone morphology	10436	EMG1	OMIM:211180
HP:0002813	Abnormal limb bone morphology	10436	EMG1	ORPHA:1270
HP:0002813	Abnormal limb bone morphology	79023	NUP37	OMIM:618179
HP:0002813	Abnormal limb bone morphology	27161	AGO2	OMIM:619149
HP:0002813	Abnormal limb bone morphology	221927	BRAT1	OMIM:618056
HP:0002813	Abnormal limb bone morphology	8823	FGF16	OMIM:309630
HP:0002813	Abnormal limb bone morphology	58499	ZNF462	ORPHA:502430
HP:0002813	Abnormal limb bone morphology	58499	ZNF462	OMIM:618619
HP:0002813	Abnormal limb bone morphology	3728	JUP	ORPHA:158687
HP:0002813	Abnormal limb bone morphology	23241	PACS2	OMIM:618067
HP:0002813	Abnormal limb bone morphology	9184	BUB3	ORPHA:1052
HP:0002813	Abnormal limb bone morphology	699	BUB1	ORPHA:1052
HP:0002813	Abnormal limb bone morphology	699	BUB1	OMIM:620183
HP:0002813	Abnormal limb bone morphology	9319	TRIP13	ORPHA:1052
HP:0002813	Abnormal limb bone morphology	701	BUB1B	ORPHA:1052
HP:0002813	Abnormal limb bone morphology	54476	RNF216	ORPHA:1173
HP:0002813	Abnormal limb bone morphology	51199	NIN	OMIM:614851
HP:0002813	Abnormal limb bone morphology	51199	NIN	ORPHA:319675
HP:0002813	Abnormal limb bone morphology	6628	SNRPB	ORPHA:1393
HP:0002813	Abnormal limb bone morphology	6628	SNRPB	OMIM:117650
HP:0002813	Abnormal limb bone morphology	55906	ZC4H2	ORPHA:3454
HP:0002813	Abnormal limb bone morphology	51085	MLXIPL	OMIM:194050
HP:0002813	Abnormal limb bone morphology	10430	TMEM147	OMIM:620075
HP:0002813	Abnormal limb bone morphology	84181	CHD6	ORPHA:2108
HP:0002813	Abnormal limb bone morphology	2334	AFF2	ORPHA:100973
HP:0002813	Abnormal limb bone morphology	84679	SLC9A7	OMIM:301024
HP:0002813	Abnormal limb bone morphology	7874	USP7	OMIM:616863
HP:0002813	Abnormal limb bone morphology	81620	CDT1	ORPHA:2554
HP:0002813	Abnormal limb bone morphology	5000	ORC4	ORPHA:2554
HP:0002813	Abnormal limb bone morphology	22931	RAB18	OMIM:614222
HP:0002813	Abnormal limb bone morphology	4841	NONO	ORPHA:466791
HP:0002813	Abnormal limb bone morphology	4204	MECP2	OMIM:300260
HP:0002813	Abnormal limb bone morphology	80311	KLHL15	OMIM:300982
HP:0002813	Abnormal limb bone morphology	23261	CAMTA1	OMIM:614756
HP:0002813	Abnormal limb bone morphology	11253	MAN1B1	ORPHA:397941
HP:0002813	Abnormal limb bone morphology	8506	CNTNAP1	OMIM:618186
HP:0002813	Abnormal limb bone morphology	10586	MAB21L2	OMIM:615877
HP:0002813	Abnormal limb bone morphology	5927	KDM5A	OMIM:620820
HP:0002813	Abnormal limb bone morphology	10274	STAG1	ORPHA:502434
HP:0002813	Abnormal limb bone morphology	85358	SHANK3	OMIM:606232
HP:0002813	Abnormal limb bone morphology	10087	CERT1	OMIM:616351
HP:0002813	Abnormal limb bone morphology	23327	NEDD4L	OMIM:617201
HP:0002813	Abnormal limb bone morphology	80185	TTI2	ORPHA:391307
HP:0002813	Abnormal limb bone morphology	10907	TXNL4A	OMIM:608572
HP:0002813	Abnormal limb bone morphology	6558	SLC12A2	OMIM:619080
HP:0002813	Abnormal limb bone morphology	2222	FDFT1	OMIM:618156
HP:0002813	Abnormal limb bone morphology	6857	SYT1	ORPHA:522077
HP:0002813	Abnormal limb bone morphology	6472	SHMT2	OMIM:619121
HP:0002813	Abnormal limb bone morphology	57570	TRMT5	OMIM:616539
HP:0002813	Abnormal limb bone morphology	3708	ITPR1	OMIM:117360
HP:0002813	Abnormal limb bone morphology	745	MYRF	OMIM:618280
HP:0002813	Abnormal limb bone morphology	10020	GNE	OMIM:269921
HP:0002813	Abnormal limb bone morphology	10020	GNE	ORPHA:3166
HP:0002813	Abnormal limb bone morphology	1663	DDX11	OMIM:613398
HP:0002813	Abnormal limb bone morphology	9757	KMT2B	OMIM:619934
HP:0002813	Abnormal limb bone morphology	4848	CNOT2	OMIM:618608
HP:0002813	Abnormal limb bone morphology	55023	PHIP	ORPHA:589905
HP:0002813	Abnormal limb bone morphology	341208	HEPHL1	OMIM:261990
HP:0002813	Abnormal limb bone morphology	3720	JARID2	OMIM:620098
HP:0002813	Abnormal limb bone morphology	3762	KCNJ5	ORPHA:37553
HP:0002813	Abnormal limb bone morphology	81607	NECTIN4	OMIM:613573
HP:0002813	Abnormal limb bone morphology	2629	GBA1	OMIM:230800
HP:0002813	Abnormal limb bone morphology	2629	GBA1	ORPHA:77259
HP:0002813	Abnormal limb bone morphology	5660	PSAP	OMIM:610539
HP:0002813	Abnormal limb bone morphology	950	SCARB2	ORPHA:77259
HP:0002813	Abnormal limb bone morphology	1062	CENPE	OMIM:616051
HP:0002813	Abnormal limb bone morphology	64682	ANAPC1	ORPHA:221008
HP:0002813	Abnormal limb bone morphology	3187	HNRNPH1	OMIM:620083
HP:0002813	Abnormal limb bone morphology	23545	ATP6V0A2	ORPHA:2834
HP:0002813	Abnormal limb bone morphology	126792	B3GALT6	ORPHA:536467
HP:0002813	Abnormal limb bone morphology	55697	VAC14	ORPHA:3472
HP:0002813	Abnormal limb bone morphology	3930	LBR	OMIM:215140
HP:0002813	Abnormal limb bone morphology	2990	GUSB	ORPHA:584
HP:0002813	Abnormal limb bone morphology	4038	LRP4	ORPHA:3152
HP:0002813	Abnormal limb bone morphology	3423	IDS	ORPHA:217085
HP:0002813	Abnormal limb bone morphology	3423	IDS	ORPHA:217093
HP:0002813	Abnormal limb bone morphology	5479	PPIB	OMIM:259440
HP:0002813	Abnormal limb bone morphology	121340	SP7	ORPHA:1513
HP:0002813	Abnormal limb bone morphology	10216	PRG4	OMIM:208250
HP:0002813	Abnormal limb bone morphology	25914	RTTN	ORPHA:468631
HP:0002813	Abnormal limb bone morphology	10079	ATP9A	OMIM:620242
HP:0002813	Abnormal limb bone morphology	55898	UNC45A	OMIM:619377
HP:0002813	Abnormal limb bone morphology	9652	SKIC3	OMIM:222470
HP:0002813	Abnormal limb bone morphology	11277	TREX1	ORPHA:247691
HP:0002813	Abnormal limb bone morphology	4125	MAN2B1	ORPHA:309282
HP:0002813	Abnormal limb bone morphology	1277	COL1A1	ORPHA:1310
HP:0002813	Abnormal limb bone morphology	6905	TBCE	ORPHA:93324
HP:0002813	Abnormal limb bone morphology	63901	FAM111A	ORPHA:93325
HP:0002813	Abnormal limb bone morphology	8443	GNPAT	OMIM:222765
HP:0002813	Abnormal limb bone morphology	11160	ERLIN2	ORPHA:209951
HP:0002813	Abnormal limb bone morphology	22978	NT5C2	ORPHA:320396
HP:0002813	Abnormal limb bone morphology	64127	NOD2	OMIM:186580
HP:0002813	Abnormal limb bone morphology	1984	EIF5A	OMIM:619376
HP:0002813	Abnormal limb bone morphology	825	CAPN3	ORPHA:267
HP:0002813	Abnormal limb bone morphology	51305	KCNK9	ORPHA:166108
HP:0002813	Abnormal limb bone morphology	1717	DHCR7	ORPHA:818
HP:0002813	Abnormal limb bone morphology	3516	RBPJ	ORPHA:974
HP:0002813	Abnormal limb bone morphology	57514	ARHGAP31	ORPHA:974
HP:0002813	Abnormal limb bone morphology	57572	DOCK6	ORPHA:974
HP:0002813	Abnormal limb bone morphology	285203	EOGT	ORPHA:974
HP:0002813	Abnormal limb bone morphology	4921	DDR2	OMIM:271665
HP:0002813	Abnormal limb bone morphology	22827	PUF60	ORPHA:508498
HP:0002813	Abnormal limb bone morphology	1788	DNMT3A	OMIM:618724
HP:0002813	Abnormal limb bone morphology	9365	KL	OMIM:617994
HP:0002813	Abnormal limb bone morphology	7528	YY1	ORPHA:506358
HP:0002813	Abnormal limb bone morphology	7528	YY1	OMIM:617557
HP:0002813	Abnormal limb bone morphology	54681	P4HTM	OMIM:618493
HP:0002813	Abnormal limb bone morphology	54681	P4HTM	ORPHA:436141
HP:0002813	Abnormal limb bone morphology	128674	PROKR2	OMIM:244200
HP:0002813	Abnormal limb bone morphology	22861	NLRP1	OMIM:615225
HP:0002813	Abnormal limb bone morphology	867	CBL	OMIM:613563
HP:0002813	Abnormal limb bone morphology	11342	RNF13	ORPHA:544503
HP:0002813	Abnormal limb bone morphology	90952	ESAM	OMIM:620371
HP:0002813	Abnormal limb bone morphology	3373	HYAL1	OMIM:601492
HP:0002813	Abnormal limb bone morphology	7337	UBE3A	ORPHA:238446
HP:0002813	Abnormal limb bone morphology	8854	ALDH1A2	OMIM:620025
HP:0002813	Abnormal limb bone morphology	23384	SPECC1L	ORPHA:1519
HP:0002813	Abnormal limb bone morphology	26128	KIFBP	ORPHA:66629
HP:0002813	Abnormal limb bone morphology	150468	CKAP2L	ORPHA:3255
HP:0002813	Abnormal limb bone morphology	1500	CTNND1	ORPHA:1997
HP:0002813	Abnormal limb bone morphology	5980	REV3L	ORPHA:570
HP:0002813	Abnormal limb bone morphology	134701	RIPPLY2	ORPHA:2311
HP:0002813	Abnormal limb bone morphology	10683	DLL3	ORPHA:2311
HP:0002813	Abnormal limb bone morphology	3955	LFNG	ORPHA:2311
HP:0002813	Abnormal limb bone morphology	84667	HES7	ORPHA:2311
HP:0002813	Abnormal limb bone morphology	145873	MESP2	ORPHA:2311
HP:0002813	Abnormal limb bone morphology	1501	CTNND2	ORPHA:281
HP:0002813	Abnormal limb bone morphology	9037	SEMA5A	ORPHA:281
HP:0002813	Abnormal limb bone morphology	157680	VPS13B	ORPHA:193
HP:0002813	Abnormal limb bone morphology	2535	FZD2	ORPHA:3107
HP:0002813	Abnormal limb bone morphology	9508	ADAMTS3	ORPHA:2136
HP:0002813	Abnormal limb bone morphology	147372	CCBE1	ORPHA:2136
HP:0002813	Abnormal limb bone morphology	2122	MECOM	ORPHA:71289
HP:0002813	Abnormal limb bone morphology	8517	IKBKG	ORPHA:464
HP:0002813	Abnormal limb bone morphology	284252	KCTD1	OMIM:181270
HP:0002813	Abnormal limb bone morphology	8314	BAP1	OMIM:619762
HP:0002813	Abnormal limb bone morphology	55612	FERMT1	ORPHA:2908
HP:0002813	Abnormal limb bone morphology	4621	MYH3	ORPHA:2990
HP:0002813	Abnormal limb bone morphology	9939	RBM8A	ORPHA:3320
HP:0002813	Abnormal limb bone morphology	9939	RBM8A	OMIM:274000
HP:0002813	Abnormal limb bone morphology	57020	VPS35L	ORPHA:7
HP:0002813	Abnormal limb bone morphology	56896	DPYSL5	ORPHA:7
HP:0002813	Abnormal limb bone morphology	3376	IARS1	ORPHA:541423
HP:0002813	Abnormal limb bone morphology	545	ATR	OMIM:210600
HP:0002813	Abnormal limb bone morphology	3586	IL10	OMIM:180300
HP:0002813	Abnormal limb bone morphology	6583	SLC22A4	OMIM:180300
HP:0002813	Abnormal limb bone morphology	4261	CIITA	OMIM:180300
HP:0002813	Abnormal limb bone morphology	51744	CD244	OMIM:180300
HP:0002813	Abnormal limb bone morphology	4795	NFKBIL1	OMIM:180300
HP:0002813	Abnormal limb bone morphology	26278	SACS	OMIM:270550
HP:0002813	Abnormal limb bone morphology	7466	WFS1	OMIM:222300
HP:0002813	Abnormal limb bone morphology	54829	ASPN	OMIM:607850
HP:0002813	Abnormal limb bone morphology	54543	TOMM7	OMIM:620601
HP:0002813	Abnormal limb bone morphology	1289	COL5A1	ORPHA:287
HP:0002813	Abnormal limb bone morphology	1290	COL5A2	ORPHA:287
HP:0002813	Abnormal limb bone morphology	7030	TFE3	OMIM:301066
HP:0002813	Abnormal limb bone morphology	633	BGN	OMIM:300106
HP:0002813	Abnormal limb bone morphology	2720	GLB1	ORPHA:79255
HP:0002813	Abnormal limb bone morphology	5979	RET	OMIM:162300
HP:0002813	Abnormal limb bone morphology	6678	SPARC	OMIM:616507
HP:0002813	Abnormal limb bone morphology	11128	POLR3A	ORPHA:3455
HP:0002813	Abnormal limb bone morphology	79879	CCDC134	OMIM:619795
HP:0002813	Abnormal limb bone morphology	5447	POR	ORPHA:95699
HP:0002813	Abnormal limb bone morphology	6662	SOX9	ORPHA:140
HP:0002813	Abnormal limb bone morphology	6662	SOX9	OMIM:114290
HP:0002813	Abnormal limb bone morphology	613	BCR	ORPHA:261330
HP:0002813	Abnormal limb bone morphology	1399	CRKL	ORPHA:261330
HP:0002813	Abnormal limb bone morphology	5594	MAPK1	ORPHA:261330
HP:0002813	Abnormal limb bone morphology	23322	RPGRIP1L	OMIM:611561
HP:0002813	Abnormal limb bone morphology	23322	RPGRIP1L	ORPHA:564
HP:0002813	Abnormal limb bone morphology	2201	FBN2	OMIM:121050
HP:0002813	Abnormal limb bone morphology	30008	EFEMP2	OMIM:614437
HP:0002813	Abnormal limb bone morphology	51259	TMEM216	OMIM:603194
HP:0002813	Abnormal limb bone morphology	51259	TMEM216	ORPHA:564
HP:0002813	Abnormal limb bone morphology	56975	FAM20C	OMIM:259775
HP:0002813	Abnormal limb bone morphology	9401	RECQL4	ORPHA:1225
HP:0002813	Abnormal limb bone morphology	55603	TENT5A	OMIM:617952
HP:0002813	Abnormal limb bone morphology	5831	PYCR1	OMIM:612940
HP:0002813	Abnormal limb bone morphology	90993	CREB3L1	OMIM:616229
HP:0002813	Abnormal limb bone morphology	64093	SMOC1	ORPHA:1106
HP:0002813	Abnormal limb bone morphology	4982	TNFRSF11B	OMIM:239000
HP:0002813	Abnormal limb bone morphology	4982	TNFRSF11B	ORPHA:2801
HP:0002813	Abnormal limb bone morphology	84314	TMEM107	ORPHA:564
HP:0002813	Abnormal limb bone morphology	26123	TCTN3	ORPHA:564
HP:0002813	Abnormal limb bone morphology	26123	TCTN3	OMIM:614815
HP:0002813	Abnormal limb bone morphology	79867	TCTN2	ORPHA:564
HP:0002813	Abnormal limb bone morphology	80776	B9D2	ORPHA:564
HP:0002813	Abnormal limb bone morphology	79600	TCTN1	ORPHA:564
HP:0002813	Abnormal limb bone morphology	57096	RPGRIP1	ORPHA:564
HP:0002813	Abnormal limb bone morphology	79848	CSPP1	ORPHA:564
HP:0002813	Abnormal limb bone morphology	80184	CEP290	ORPHA:564
HP:0002813	Abnormal limb bone morphology	80184	CEP290	OMIM:611134
HP:0002813	Abnormal limb bone morphology	57545	CC2D2A	ORPHA:564
HP:0002813	Abnormal limb bone morphology	79583	TMEM231	ORPHA:564
HP:0002813	Abnormal limb bone morphology	91147	TMEM67	ORPHA:564
HP:0002813	Abnormal limb bone morphology	79770	TXNDC15	ORPHA:564
HP:0002813	Abnormal limb bone morphology	79770	TXNDC15	OMIM:619879
HP:0002813	Abnormal limb bone morphology	27077	B9D1	ORPHA:564
HP:0002813	Abnormal limb bone morphology	54903	MKS1	ORPHA:564
HP:0002813	Abnormal limb bone morphology	54903	MKS1	OMIM:249000
HP:0002813	Abnormal limb bone morphology	65062	TMEM237	ORPHA:564
HP:0002813	Abnormal limb bone morphology	4784	NFIX	ORPHA:561
HP:0002813	Abnormal limb bone morphology	4853	NOTCH2	ORPHA:955
HP:0002813	Abnormal limb bone morphology	11285	B4GALT7	OMIM:130070
HP:0002813	Abnormal limb bone morphology	5251	PHEX	ORPHA:89936
HP:0002813	Abnormal limb bone morphology	3572	IL6ST	OMIM:619751
HP:0002813	Abnormal limb bone morphology	3043	HBB	ORPHA:231214
HP:0002813	Abnormal limb bone morphology	3043	HBB	ORPHA:231226
HP:0002813	Abnormal limb bone morphology	8200	GDF5	ORPHA:2098
HP:0002813	Abnormal limb bone morphology	658	BMPR1B	ORPHA:2098
HP:0002813	Abnormal limb bone morphology	5352	PLOD2	ORPHA:2771
HP:0002813	Abnormal limb bone morphology	60681	FKBP10	ORPHA:2771
HP:0002813	Abnormal limb bone morphology	157570	ESCO2	ORPHA:3103
HP:0002813	Abnormal limb bone morphology	285590	SH3PXD2B	OMIM:249420
HP:0002813	Abnormal limb bone morphology	5130	PCYT1A	ORPHA:85167
HP:0002813	Abnormal limb bone morphology	6514	SLC2A2	ORPHA:2088
HP:0002813	Abnormal limb bone morphology	4882	NPR2	ORPHA:40
HP:0002813	Abnormal limb bone morphology	203859	ANO5	ORPHA:53697
HP:0002813	Abnormal limb bone morphology	203859	ANO5	OMIM:166260
HP:0002813	Abnormal limb bone morphology	80169	CTC1	OMIM:612199
HP:0002813	Abnormal limb bone morphology	871	SERPINH1	OMIM:613848
HP:0002813	Abnormal limb bone morphology	5921	RASA1	ORPHA:90307
HP:0002813	Abnormal limb bone morphology	4998	ORC1	OMIM:224690
HP:0002813	Abnormal limb bone morphology	23594	ORC6	OMIM:613803
HP:0002813	Abnormal limb bone morphology	84295	PHF6	OMIM:301900
HP:0002813	Abnormal limb bone morphology	64135	IFIH1	OMIM:182250
HP:0002813	Abnormal limb bone morphology	2074	ERCC6	OMIM:214150
HP:0002813	Abnormal limb bone morphology	2706	GJB2	ORPHA:477
HP:0002813	Abnormal limb bone morphology	3032	HADHB	ORPHA:746
HP:0002813	Abnormal limb bone morphology	3030	HADHA	ORPHA:746
HP:0002813	Abnormal limb bone morphology	2273	FHL1	OMIM:300280
HP:0002813	Abnormal limb bone morphology	7169	TPM2	ORPHA:1147
HP:0002813	Abnormal limb bone morphology	267010	RNU12	ORPHA:85199
HP:0002813	Abnormal limb bone morphology	3459	IFNGR1	OMIM:209950
HP:0002813	Abnormal limb bone morphology	405753	DUOXA2	ORPHA:95716
HP:0002813	Abnormal limb bone morphology	6528	SLC5A5	ORPHA:95716
HP:0002813	Abnormal limb bone morphology	7038	TG	ORPHA:95716
HP:0002813	Abnormal limb bone morphology	7173	TPO	ORPHA:95716
HP:0002813	Abnormal limb bone morphology	389434	IYD	ORPHA:95716
HP:0002813	Abnormal limb bone morphology	50506	DUOX2	ORPHA:95716
HP:0002813	Abnormal limb bone morphology	7253	TSHR	ORPHA:90673
HP:0002813	Abnormal limb bone morphology	7252	TSHB	ORPHA:90674
HP:0002813	Abnormal limb bone morphology	4323	MMP14	ORPHA:371428
HP:0002813	Abnormal limb bone morphology	26053	AUTS2	ORPHA:352490
HP:0002813	Abnormal limb bone morphology	79912	PYROXD1	OMIM:617258
HP:0002813	Abnormal limb bone morphology	10093	ARPC4	OMIM:620141
HP:0002813	Abnormal limb bone morphology	5648	MASP1	OMIM:257920
HP:0002813	Abnormal limb bone morphology	5879	RAC1	ORPHA:500159
HP:0002813	Abnormal limb bone morphology	10765	KDM5B	OMIM:618109
HP:0002813	Abnormal limb bone morphology	7700	ZNF141	OMIM:615226
HP:0002813	Abnormal limb bone morphology	55605	KIF21A	ORPHA:45358
HP:0002813	Abnormal limb bone morphology	347733	TUBB2B	ORPHA:45358
HP:0002813	Abnormal limb bone morphology	7846	TUBA1A	ORPHA:45358
HP:0002813	Abnormal limb bone morphology	401	PHOX2A	ORPHA:45358
HP:0002813	Abnormal limb bone morphology	84570	COL25A1	ORPHA:45358
HP:0002813	Abnormal limb bone morphology	6154	RPL26	OMIM:614900
HP:0002813	Abnormal limb bone morphology	55784	MCTP2	ORPHA:1596
HP:0002813	Abnormal limb bone morphology	5498	PPOX	OMIM:620483
HP:0002813	Abnormal limb bone morphology	444	ASPH	OMIM:601552
HP:0002813	Abnormal limb bone morphology	84823	LMNB2	OMIM:619180
HP:0002813	Abnormal limb bone morphology	164	AP1G1	OMIM:619467
HP:0002813	Abnormal limb bone morphology	5277	PIGA	OMIM:300868
HP:0002813	Abnormal limb bone morphology	1134	CHRNA1	OMIM:253290
HP:0002813	Abnormal limb bone morphology	1144	CHRND	OMIM:253290
HP:0002813	Abnormal limb bone morphology	22930	RAB3GAP1	ORPHA:1387
HP:0002813	Abnormal limb bone morphology	9382	COG1	OMIM:611209
HP:0002813	Abnormal limb bone morphology	6909	TBX2	OMIM:618223
HP:0002813	Abnormal limb bone morphology	55280	CWF19L1	ORPHA:453521
HP:0002813	Abnormal limb bone morphology	81794	ADAMTS10	OMIM:277600
HP:0002813	Abnormal limb bone morphology	65125	WNK1	OMIM:201300
HP:0002813	Abnormal limb bone morphology	54463	RETREG1	OMIM:201300
HP:0002813	Abnormal limb bone morphology	54463	RETREG1	OMIM:613115
HP:0002813	Abnormal limb bone morphology	547	KIF1A	OMIM:201300
HP:0002813	Abnormal limb bone morphology	23586	RIGI	OMIM:616298
HP:0002813	Abnormal limb bone morphology	8452	CUL3	OMIM:619239
HP:0002813	Abnormal limb bone morphology	6135	RPL11	OMIM:612562
HP:0002813	Abnormal limb bone morphology	6135	RPL11	ORPHA:124
HP:0002813	Abnormal limb bone morphology	6125	RPL5	OMIM:612561
HP:0002813	Abnormal limb bone morphology	6125	RPL5	ORPHA:124
HP:0002813	Abnormal limb bone morphology	6223	RPS19	OMIM:105650
HP:0002813	Abnormal limb bone morphology	6223	RPS19	ORPHA:124
HP:0002813	Abnormal limb bone morphology	6138	RPL15	ORPHA:124
HP:0002813	Abnormal limb bone morphology	6224	RPS20	ORPHA:124
HP:0002813	Abnormal limb bone morphology	6165	RPL35A	ORPHA:124
HP:0002813	Abnormal limb bone morphology	6132	RPL8	ORPHA:124
HP:0002813	Abnormal limb bone morphology	6232	RPS27	ORPHA:124
HP:0002813	Abnormal limb bone morphology	6160	RPL31	ORPHA:124
HP:0002813	Abnormal limb bone morphology	6201	RPS7	ORPHA:124
HP:0002813	Abnormal limb bone morphology	6155	RPL27	ORPHA:124
HP:0002813	Abnormal limb bone morphology	6234	RPS28	ORPHA:124
HP:0002813	Abnormal limb bone morphology	6229	RPS24	ORPHA:124
HP:0002813	Abnormal limb bone morphology	6204	RPS10	ORPHA:124
HP:0002813	Abnormal limb bone morphology	2623	GATA1	ORPHA:124
HP:0002813	Abnormal limb bone morphology	6133	RPL9	ORPHA:124
HP:0002813	Abnormal limb bone morphology	6231	RPS26	ORPHA:124
HP:0002813	Abnormal limb bone morphology	11224	RPL35	ORPHA:124
HP:0002813	Abnormal limb bone morphology	6218	RPS17	ORPHA:124
HP:0002813	Abnormal limb bone morphology	6210	RPS15A	ORPHA:124
HP:0002813	Abnormal limb bone morphology	90121	TSR2	ORPHA:124
HP:0002813	Abnormal limb bone morphology	6141	RPL18	ORPHA:124
HP:0002813	Abnormal limb bone morphology	6235	RPS29	ORPHA:124
HP:0002813	Abnormal limb bone morphology	51816	ADA2	ORPHA:124
HP:0002813	Abnormal limb bone morphology	1807	DPYS	OMIM:222748
HP:0002813	Abnormal limb bone morphology	1147	CHUK	OMIM:613630
HP:0002813	Abnormal limb bone morphology	51604	PIGT	ORPHA:369837
HP:0002813	Abnormal limb bone morphology	8815	BANF1	OMIM:614008
HP:0002813	Abnormal limb bone morphology	5293	PIK3CD	ORPHA:221139
HP:0002813	Abnormal limb bone morphology	90417	KNSTRN	ORPHA:221139
HP:0002813	Abnormal limb bone morphology	51412	ACTL6B	OMIM:618470
HP:0002813	Abnormal limb bone morphology	24140	FTSJ1	OMIM:309549
HP:0002813	Abnormal limb bone morphology	2475	MTOR	OMIM:616638
HP:0002813	Abnormal limb bone morphology	5281	PIGF	OMIM:619356
HP:0002813	Abnormal limb bone morphology	2677	GGCX	OMIM:277450
HP:0002813	Abnormal limb bone morphology	60401	EDA2R	ORPHA:181
HP:0002813	Abnormal limb bone morphology	1896	EDA	ORPHA:181
HP:0002813	Abnormal limb bone morphology	71	ACTG1	ORPHA:2995
HP:0002813	Abnormal limb bone morphology	26224	FBXL3	OMIM:606220
HP:0002813	Abnormal limb bone morphology	55252	ASXL2	OMIM:617190
HP:0002813	Abnormal limb bone morphology	4329	ALDH6A1	OMIM:614105
HP:0002813	Abnormal limb bone morphology	285362	SUMF1	ORPHA:585
HP:0002813	Abnormal limb bone morphology	4256	MGP	OMIM:245150
HP:0002813	Abnormal limb bone morphology	6091	ROBO1	OMIM:620305
HP:0002813	Abnormal limb bone morphology	23102	TBC1D2B	ORPHA:397973
HP:0002813	Abnormal limb bone morphology	415	ARSL	ORPHA:79345
HP:0002813	Abnormal limb bone morphology	5728	PTEN	ORPHA:79076
HP:0002813	Abnormal limb bone morphology	6792	CDKL5	ORPHA:1934
HP:0002813	Abnormal limb bone morphology	3736	KCNA1	ORPHA:1934
HP:0002813	Abnormal limb bone morphology	9091	PIGQ	ORPHA:1934
HP:0002813	Abnormal limb bone morphology	140679	SLC32A1	ORPHA:1934
HP:0002813	Abnormal limb bone morphology	2775	GNAO1	ORPHA:1934
HP:0002813	Abnormal limb bone morphology	81603	TRIM8	ORPHA:1934
HP:0002813	Abnormal limb bone morphology	2902	GRIN1	ORPHA:1934
HP:0002813	Abnormal limb bone morphology	79751	SLC25A22	ORPHA:1934
HP:0002813	Abnormal limb bone morphology	150094	SIK1	ORPHA:1934
HP:0002813	Abnormal limb bone morphology	8573	CASK	ORPHA:1934
HP:0002813	Abnormal limb bone morphology	23312	DMXL2	ORPHA:1934
HP:0002813	Abnormal limb bone morphology	2917	GRM7	ORPHA:1934
HP:0002813	Abnormal limb bone morphology	170302	ARX	ORPHA:1934
HP:0002813	Abnormal limb bone morphology	6326	SCN2A	ORPHA:1934
HP:0002813	Abnormal limb bone morphology	51227	PIGP	ORPHA:1934
HP:0002813	Abnormal limb bone morphology	6324	SCN1B	ORPHA:1934
HP:0002813	Abnormal limb bone morphology	4761	NEUROD2	ORPHA:1934
HP:0002813	Abnormal limb bone morphology	1161	ERCC8	OMIM:216400
HP:0002813	Abnormal limb bone morphology	158326	FREM1	ORPHA:217266
HP:0002813	Abnormal limb bone morphology	51524	TMEM138	OMIM:614465
HP:0002813	Abnormal limb bone morphology	10682	EBP	OMIM:300960
HP:0002813	Abnormal limb bone morphology	283120	H19	ORPHA:231140
HP:0002813	Abnormal limb bone morphology	9786	KIAA0586	OMIM:616490
HP:0002813	Abnormal limb bone morphology	55617	TASP1	OMIM:618950
HP:0002813	Abnormal limb bone morphology	80210	ARMC9	OMIM:617622
HP:0002813	Abnormal limb bone morphology	10908	PNPLA6	OMIM:275400
HP:0002813	Abnormal limb bone morphology	10908	PNPLA6	OMIM:245800
HP:0002813	Abnormal limb bone morphology	9723	SEMA3E	ORPHA:138
HP:0002813	Abnormal limb bone morphology	10735	STAG2	OMIM:301022
HP:0002813	Abnormal limb bone morphology	3899	AFF3	OMIM:619297
HP:0002813	Abnormal limb bone morphology	22897	CEP164	OMIM:614845
HP:0002813	Abnormal limb bone morphology	3643	INSR	ORPHA:769
HP:0002813	Abnormal limb bone morphology	26146	TRAF3IP1	OMIM:616629
HP:0002813	Abnormal limb bone morphology	7840	ALMS1	OMIM:203800
HP:0002813	Abnormal limb bone morphology	5727	PTCH1	ORPHA:77301
HP:0002813	Abnormal limb bone morphology	5727	PTCH1	OMIM:109400
HP:0002813	Abnormal limb bone morphology	8802	SUCLG1	ORPHA:17
HP:0002813	Abnormal limb bone morphology	83879	CDCA7	OMIM:616910
HP:0002813	Abnormal limb bone morphology	27152	INTU	OMIM:617926
HP:0002813	Abnormal limb bone morphology	5813	PURA	ORPHA:314655
HP:0002813	Abnormal limb bone morphology	4758	NEU1	ORPHA:93400
HP:0002813	Abnormal limb bone morphology	7473	WNT3	ORPHA:3301
HP:0002813	Abnormal limb bone morphology	340419	RSPO2	ORPHA:3301
HP:0002813	Abnormal limb bone morphology	57003	CCDC47	OMIM:618268
HP:0002813	Abnormal limb bone morphology	84892	POMGNT2	ORPHA:899
HP:0002813	Abnormal limb bone morphology	148789	B3GALNT2	ORPHA:899
HP:0002813	Abnormal limb bone morphology	79147	FKRP	ORPHA:899
HP:0002813	Abnormal limb bone morphology	29954	POMT2	ORPHA:899
HP:0002813	Abnormal limb bone morphology	9215	LARGE1	ORPHA:899
HP:0002813	Abnormal limb bone morphology	1282	COL4A1	ORPHA:899
HP:0002813	Abnormal limb bone morphology	729920	CRPPA	ORPHA:899
HP:0002813	Abnormal limb bone morphology	10329	RXYLT1	ORPHA:899
HP:0002813	Abnormal limb bone morphology	1605	DAG1	ORPHA:899
HP:0002813	Abnormal limb bone morphology	11041	B4GAT1	ORPHA:899
HP:0002813	Abnormal limb bone morphology	10585	POMT1	ORPHA:899
HP:0002813	Abnormal limb bone morphology	84197	POMK	ORPHA:899
HP:0002813	Abnormal limb bone morphology	2218	FKTN	ORPHA:899
HP:0002813	Abnormal limb bone morphology	55624	POMGNT1	ORPHA:899
HP:0002813	Abnormal limb bone morphology	10526	IPO8	OMIM:619472
HP:0002813	Abnormal limb bone morphology	23133	PHF8	OMIM:300263
HP:0002813	Abnormal limb bone morphology	51111	KMT5B	OMIM:617788
HP:0002813	Abnormal limb bone morphology	80347	COASY	OMIM:618266
HP:0002813	Abnormal limb bone morphology	54809	SAMD9	OMIM:617053
HP:0002813	Abnormal limb bone morphology	285489	DOK7	OMIM:618389
HP:0002813	Abnormal limb bone morphology	7841	MOGS	OMIM:606056
HP:0002813	Abnormal limb bone morphology	7841	MOGS	ORPHA:79330
HP:0002813	Abnormal limb bone morphology	256297	PTF1A	OMIM:609069
HP:0002813	Abnormal limb bone morphology	55593	OTUD5	OMIM:301056
HP:0002813	Abnormal limb bone morphology	129285	PPP1R21	OMIM:619383
HP:0002813	Abnormal limb bone morphology	8567	MADD	OMIM:619004
HP:0002813	Abnormal limb bone morphology	5297	PI4KA	OMIM:616531
HP:0002813	Abnormal limb bone morphology	5297	PI4KA	OMIM:619708
HP:0002813	Abnormal limb bone morphology	8985	PLOD3	OMIM:612394
HP:0002813	Abnormal limb bone morphology	5591	PRKDC	OMIM:615966
HP:0002813	Abnormal limb bone morphology	60561	RINT1	OMIM:618641
HP:0002813	Abnormal limb bone morphology	3313	HSPA9	OMIM:616854
HP:0002813	Abnormal limb bone morphology	64116	SLC39A8	ORPHA:468699
HP:0002813	Abnormal limb bone morphology	9690	UBE3C	OMIM:620270
HP:0002813	Abnormal limb bone morphology	51506	UFC1	OMIM:618076
HP:0002813	Abnormal limb bone morphology	80232	WDR26	ORPHA:513456
HP:0002813	Abnormal limb bone morphology	25782	RAB3GAP2	OMIM:212720
HP:0002813	Abnormal limb bone morphology	6736	SRY	ORPHA:1772
HP:0002813	Abnormal limb bone morphology	4010	LMX1B	ORPHA:2614
HP:0002813	Abnormal limb bone morphology	5626	PROP1	ORPHA:95494
HP:0002813	Abnormal limb bone morphology	2736	GLI2	ORPHA:95494
HP:0002813	Abnormal limb bone morphology	89884	LHX4	ORPHA:95494
HP:0002813	Abnormal limb bone morphology	3170	FOXA2	ORPHA:95494
HP:0002813	Abnormal limb bone morphology	5449	POU1F1	ORPHA:95494
HP:0002813	Abnormal limb bone morphology	8820	HESX1	ORPHA:95494
HP:0002813	Abnormal limb bone morphology	5015	OTX2	ORPHA:95494
HP:0002813	Abnormal limb bone morphology	2263	FGFR2	ORPHA:2363
HP:0002813	Abnormal limb bone morphology	2255	FGF10	ORPHA:2363
HP:0002813	Abnormal limb bone morphology	9896	FIG4	ORPHA:208441
HP:0002813	Abnormal limb bone morphology	11146	GLMN	ORPHA:83454
HP:0002813	Abnormal limb bone morphology	50814	NSDHL	OMIM:300831
HP:0002813	Abnormal limb bone morphology	22856	CHSY1	ORPHA:363417
HP:0002813	Abnormal limb bone morphology	6477	SIAH1	OMIM:619314
HP:0002813	Abnormal limb bone morphology	10059	DNM1L	OMIM:614388
HP:0002813	Abnormal limb bone morphology	29920	PYCR2	ORPHA:481152
HP:0002813	Abnormal limb bone morphology	5718	PSMD12	ORPHA:529962
HP:0002813	Abnormal limb bone morphology	79753	SNIP1	OMIM:614501
HP:0002813	Abnormal limb bone morphology	80036	TRPM3	OMIM:620224
HP:0002813	Abnormal limb bone morphology	3756	KCNH1	ORPHA:420561
HP:0002813	Abnormal limb bone morphology	3756	KCNH1	OMIM:611816
HP:0002813	Abnormal limb bone morphology	60529	ALX4	ORPHA:60015
HP:0002813	Abnormal limb bone morphology	5587	PRKD1	OMIM:617364
HP:0002813	Abnormal limb bone morphology	22907	DHX30	OMIM:617804
HP:0002813	Abnormal limb bone morphology	865	CBFB	OMIM:620099
HP:0002813	Abnormal limb bone morphology	4534	MTM1	OMIM:310400
HP:0002813	Abnormal limb bone morphology	4953	ODC1	ORPHA:544488
HP:0002813	Abnormal limb bone morphology	6329	SCN4A	OMIM:620369
HP:0002813	Abnormal limb bone morphology	654	BMP6	ORPHA:465508
HP:0002813	Abnormal limb bone morphology	3077	HFE	ORPHA:465508
HP:0002813	Abnormal limb bone morphology	9653	HS2ST1	OMIM:619194
HP:0002813	Abnormal limb bone morphology	6872	TAF1	OMIM:300966
HP:0002813	Abnormal limb bone morphology	94005	PIGS	OMIM:618143
HP:0002813	Abnormal limb bone morphology	23476	BRD4	ORPHA:199
HP:0002813	Abnormal limb bone morphology	9126	SMC3	ORPHA:199
HP:0002813	Abnormal limb bone morphology	8243	SMC1A	ORPHA:199
HP:0002813	Abnormal limb bone morphology	6878	TAF6	ORPHA:199
HP:0002813	Abnormal limb bone morphology	55869	HDAC8	ORPHA:199
HP:0002813	Abnormal limb bone morphology	8364	H4C3	OMIM:619758
HP:0002813	Abnormal limb bone morphology	56603	CYP26B1	OMIM:614416
HP:0002813	Abnormal limb bone morphology	1750	DLX6	ORPHA:2440
HP:0002813	Abnormal limb bone morphology	7979	SEM1	ORPHA:2440
HP:0002813	Abnormal limb bone morphology	8945	BTRC	ORPHA:2440
HP:0002813	Abnormal limb bone morphology	58513	EPS15L1	ORPHA:2440
HP:0002813	Abnormal limb bone morphology	6468	FBXW4	ORPHA:2440
HP:0002813	Abnormal limb bone morphology	7480	WNT10B	ORPHA:2440
HP:0002813	Abnormal limb bone morphology	29980	DONSON	OMIM:251230
HP:0002813	Abnormal limb bone morphology	324	APC	ORPHA:3258
HP:0002813	Abnormal limb bone morphology	84340	GFM2	ORPHA:565624
HP:0002813	Abnormal limb bone morphology	284058	KANSL1	ORPHA:363965
HP:0002813	Abnormal limb bone morphology	284058	KANSL1	ORPHA:363958
HP:0002813	Abnormal limb bone morphology	55165	CEP55	OMIM:236500
HP:0002813	Abnormal limb bone morphology	4212	MEIS2	OMIM:600987
HP:0002813	Abnormal limb bone morphology	29998	BICRA	OMIM:619325
HP:0002813	Abnormal limb bone morphology	83479	DDX59	OMIM:174300
HP:0002813	Abnormal limb bone morphology	9772	TMEM94	OMIM:618316
HP:0002813	Abnormal limb bone morphology	64864	RFX7	OMIM:620330
HP:0002813	Abnormal limb bone morphology	342035	GLDN	OMIM:617194
HP:0002813	Abnormal limb bone morphology	3861	KRT14	ORPHA:69087
HP:0002813	Abnormal limb bone morphology	57190	SELENON	ORPHA:2020
HP:0002813	Abnormal limb bone morphology	4633	MYL2	ORPHA:2020
HP:0002813	Abnormal limb bone morphology	3679	ITGA7	ORPHA:2020
HP:0002813	Abnormal limb bone morphology	9200	HACD1	ORPHA:2020
HP:0002813	Abnormal limb bone morphology	7170	TPM3	ORPHA:2020
HP:0002813	Abnormal limb bone morphology	28982	FLVCR1	ORPHA:88628
HP:0002813	Abnormal limb bone morphology	28982	FLVCR1	OMIM:609033
HP:0002813	Abnormal limb bone morphology	5696	PSMB8	OMIM:256040
HP:0002813	Abnormal limb bone morphology	5692	PSMB4	OMIM:617591
HP:0002813	Abnormal limb bone morphology	10617	STAMBP	OMIM:614261
HP:0002813	Abnormal limb bone morphology	10262	SF3B4	OMIM:154400
HP:0002813	Abnormal limb bone morphology	83932	SPRTN	OMIM:616200
HP:0002813	Abnormal limb bone morphology	65267	WNK3	OMIM:309610
HP:0002813	Abnormal limb bone morphology	1855	DVL1	OMIM:616331
HP:0002813	Abnormal limb bone morphology	1855	DVL1	OMIM:180700
HP:0002813	Abnormal limb bone morphology	10847	SRCAP	ORPHA:2044
HP:0002813	Abnormal limb bone morphology	26012	NSMF	OMIM:614838
HP:0002813	Abnormal limb bone morphology	55780	ERMARD	ORPHA:75857
HP:0002813	Abnormal limb bone morphology	10225	CD96	OMIM:211750
HP:0002813	Abnormal limb bone morphology	57231	SNX14	ORPHA:397709
HP:0002813	Abnormal limb bone morphology	57231	SNX14	OMIM:616354
HP:0002813	Abnormal limb bone morphology	10559	SLC35A1	OMIM:603585
HP:0002813	Abnormal limb bone morphology	56992	KIF15	ORPHA:261323
HP:0002813	Abnormal limb bone morphology	56992	KIF15	OMIM:619981
HP:0002813	Abnormal limb bone morphology	84992	PIGY	ORPHA:247262
HP:0002813	Abnormal limb bone morphology	84720	PIGO	ORPHA:247262
HP:0002813	Abnormal limb bone morphology	93210	PGAP3	ORPHA:247262
HP:0002813	Abnormal limb bone morphology	284098	PIGW	ORPHA:247262
HP:0002813	Abnormal limb bone morphology	27315	PGAP2	ORPHA:247262
HP:0002813	Abnormal limb bone morphology	55650	PIGV	ORPHA:247262
HP:0002813	Abnormal limb bone morphology	9487	PIGL	ORPHA:247262
HP:0002813	Abnormal limb bone morphology	9487	PIGL	OMIM:280000
HP:0002813	Abnormal limb bone morphology	10584	COLEC10	OMIM:248340
HP:0002813	Abnormal limb bone morphology	9241	NOG	OMIM:186570
HP:0002813	Abnormal limb bone morphology	9698	PUM1	OMIM:620719
HP:0002813	Abnormal limb bone morphology	9698	PUM1	OMIM:617931
HP:0002813	Abnormal limb bone morphology	80204	FBXO11	OMIM:618089
HP:0002813	Abnormal limb bone morphology	64359	NXN	OMIM:618529
HP:0002813	Abnormal limb bone morphology	92579	G6PC3	OMIM:612541
HP:0002813	Abnormal limb bone morphology	81857	MED25	ORPHA:464738
HP:0002813	Abnormal limb bone morphology	4297	KMT2A	ORPHA:319182
HP:0002813	Abnormal limb bone morphology	93627	TBCK	ORPHA:488632
HP:0002813	Abnormal limb bone morphology	200734	SPRED2	OMIM:619745
HP:0002813	Abnormal limb bone morphology	3782	KCNN3	OMIM:618658
HP:0002813	Abnormal limb bone morphology	26227	PHGDH	OMIM:256520
HP:0002813	Abnormal limb bone morphology	8241	RBM10	OMIM:311900
HP:0002813	Abnormal limb bone morphology	8241	RBM10	ORPHA:2886
HP:0002813	Abnormal limb bone morphology	1798	DPAGT1	ORPHA:86309
HP:0002813	Abnormal limb bone morphology	3590	IL11RA	OMIM:614188
HP:0002813	Abnormal limb bone morphology	8558	CDK10	OMIM:617694
HP:0002813	Abnormal limb bone morphology	6660	SOX5	OMIM:616803
HP:0002813	Abnormal limb bone morphology	8085	KMT2D	OMIM:620186
HP:0002813	Abnormal limb bone morphology	23137	SMC5	OMIM:620185
HP:0002813	Abnormal limb bone morphology	79759	ZNF668	OMIM:620194
HP:0002813	Abnormal limb bone morphology	27086	FOXP1	ORPHA:391372
HP:0002813	Abnormal limb bone morphology	56098	PCDHGC4	OMIM:619880
HP:0002813	Abnormal limb bone morphology	1654	DDX3X	ORPHA:3338
HP:0002813	Abnormal limb bone morphology	7140	TNNT3	OMIM:618435
HP:0002813	Abnormal limb bone morphology	5295	PIK3R1	OMIM:269880
HP:0002813	Abnormal limb bone morphology	546	ATRX	OMIM:309580
HP:0002813	Abnormal limb bone morphology	546	ATRX	OMIM:301040
HP:0002813	Abnormal limb bone morphology	257	ALX3	OMIM:136760
HP:0002813	Abnormal limb bone morphology	4883	NPR3	OMIM:619543
HP:0002813	Abnormal limb bone morphology	8621	CDK13	OMIM:617360
HP:0002813	Abnormal limb bone morphology	5881	RAC3	OMIM:618577
HP:0002813	Abnormal limb bone morphology	7227	TRPS1	OMIM:190350
HP:0002813	Abnormal limb bone morphology	9894	TELO2	OMIM:616954
HP:0002813	Abnormal limb bone morphology	9894	TELO2	ORPHA:488642
HP:0002813	Abnormal limb bone morphology	6664	SOX11	OMIM:615866
HP:0002813	Abnormal limb bone morphology	6664	SOX11	ORPHA:1465
HP:0002813	Abnormal limb bone morphology	196528	ARID2	OMIM:617808
HP:0002813	Abnormal limb bone morphology	196528	ARID2	ORPHA:1465
HP:0002813	Abnormal limb bone morphology	10075	HUWE1	OMIM:309590
HP:0002813	Abnormal limb bone morphology	3480	IGF1R	ORPHA:73273
HP:0002813	Abnormal limb bone morphology	3480	IGF1R	OMIM:270450
HP:0002813	Abnormal limb bone morphology	3479	IGF1	ORPHA:73272
HP:0002813	Abnormal limb bone morphology	23111	SPART	OMIM:275900
HP:0002813	Abnormal limb bone morphology	23111	SPART	ORPHA:101000
HP:0002813	Abnormal limb bone morphology	5898	RALA	OMIM:619311
HP:0002813	Abnormal limb bone morphology	54892	NCAPG2	OMIM:618460
HP:0002813	Abnormal limb bone morphology	8473	OGT	OMIM:300997
HP:0002813	Abnormal limb bone morphology	57122	NUP107	OMIM:618348
HP:0002813	Abnormal limb bone morphology	57122	NUP107	OMIM:616730
HP:0002813	Abnormal limb bone morphology	56623	INPP5E	OMIM:213300
HP:0002813	Abnormal limb bone morphology	253738	EBF3	ORPHA:96148
HP:0002813	Abnormal limb bone morphology	84162	BLTP1	OMIM:617822
HP:0002813	Abnormal limb bone morphology	998	CDC42	OMIM:616737
HP:0002813	Abnormal limb bone morphology	998	CDC42	ORPHA:487796
HP:0002813	Abnormal limb bone morphology	157922	CAMSAP1	OMIM:620316
HP:0002813	Abnormal limb bone morphology	999	CDH1	OMIM:119580
HP:0002813	Abnormal limb bone morphology	5053	PAH	ORPHA:2209
HP:0002813	Abnormal limb bone morphology	4131	MAP1B	OMIM:618918
HP:0002813	Abnormal limb bone morphology	2239	GPC4	OMIM:301026
HP:0002813	Abnormal limb bone morphology	56915	EXOSC5	OMIM:619576
HP:0002813	Abnormal limb bone morphology	23511	NUP188	OMIM:618804
HP:0002813	Abnormal limb bone morphology	6597	SMARCA4	ORPHA:1465
HP:0002813	Abnormal limb bone morphology	6598	SMARCB1	ORPHA:1465
HP:0002813	Abnormal limb bone morphology	6659	SOX4	ORPHA:1465
HP:0002813	Abnormal limb bone morphology	8289	ARID1A	ORPHA:1465
HP:0002813	Abnormal limb bone morphology	5977	DPF2	ORPHA:1465
HP:0002813	Abnormal limb bone morphology	6601	SMARCC2	ORPHA:1465
HP:0002813	Abnormal limb bone morphology	6602	SMARCD1	ORPHA:1465
HP:0002813	Abnormal limb bone morphology	57492	ARID1B	ORPHA:1465
HP:0002813	Abnormal limb bone morphology	6605	SMARCE1	ORPHA:1465
HP:0002813	Abnormal limb bone morphology	7703	PCGF2	OMIM:618371
HP:0002813	Abnormal limb bone morphology	6638	SNRPN	ORPHA:177907
HP:0002813	Abnormal limb bone morphology	990	CDC6	OMIM:613805
HP:0002813	Abnormal limb bone morphology	63895	PIEZO2	OMIM:108145
HP:0002813	Abnormal limb bone morphology	5075	PAX1	OMIM:615560
HP:0002813	Abnormal limb bone morphology	83737	ITCH	OMIM:613385
HP:0002813	Abnormal limb bone morphology	83737	ITCH	ORPHA:228426
HP:0002813	Abnormal limb bone morphology	9702	CEP57	OMIM:614114
HP:0002813	Abnormal limb bone morphology	23529	CLCF1	OMIM:610313
HP:0002813	Abnormal limb bone morphology	93587	TRMT10A	ORPHA:391408
HP:0002813	Abnormal limb bone morphology	84919	PPP1R15B	ORPHA:391408
HP:0002813	Abnormal limb bone morphology	6748	SSR4	OMIM:300934
HP:0002813	Abnormal limb bone morphology	51371	POMP	OMIM:618048
HP:0002813	Abnormal limb bone morphology	9320	TRIP12	OMIM:617752
HP:0002813	Abnormal limb bone morphology	7518	XRCC4	OMIM:616541
HP:0002813	Abnormal limb bone morphology	8242	KDM5C	ORPHA:85279
HP:0002813	Abnormal limb bone morphology	387	RHOA	OMIM:618727
HP:0002813	Abnormal limb bone morphology	11043	MID2	OMIM:300928
HP:0002813	Abnormal limb bone morphology	7474	WNT5A	OMIM:180700
HP:0002813	Abnormal limb bone morphology	23309	SIN3B	ORPHA:500166
HP:0002813	Abnormal limb bone morphology	672	BRCA1	OMIM:617883
HP:0002813	Abnormal limb bone morphology	4654	MYOD1	OMIM:618975
HP:0002813	Abnormal limb bone morphology	25886	POC1A	OMIM:614813
HP:0002813	Abnormal limb bone morphology	9898	UBAP2L	OMIM:620494
HP:0002813	Abnormal limb bone morphology	673	BRAF	OMIM:163950
HP:0002813	Abnormal limb bone morphology	5604	MAP2K1	OMIM:163950
HP:0002813	Abnormal limb bone morphology	9555	MACROH2A1	ORPHA:1275
HP:0002813	Abnormal limb bone morphology	5307	PITX1	ORPHA:1275
HP:0002813	Abnormal limb bone morphology	5426	POLE	OMIM:615139
HP:0002813	Abnormal limb bone morphology	23761	PISD	OMIM:618889
HP:0002813	Abnormal limb bone morphology	4507	MTAP	OMIM:112250
HP:0002813	Abnormal limb bone morphology	23299	BICD2	OMIM:618291
HP:0002813	Abnormal limb bone morphology	221496	LEMD2	OMIM:619322
HP:0002813	Abnormal limb bone morphology	2688	GH1	OMIM:612781
HP:0002813	Abnormal limb bone morphology	388015	RTL1	ORPHA:254525
HP:0002813	Abnormal limb bone morphology	8788	DLK1	ORPHA:254525
HP:0002813	Abnormal limb bone morphology	55384	MEG3	ORPHA:254525
HP:0002813	Abnormal limb bone morphology	100033413	SNORD116-1	OMIM:176270
HP:0002813	Abnormal limb bone morphology	8924	HERC2	OMIM:176270
HP:0002813	Abnormal limb bone morphology	23742	NPAP1	OMIM:176270
HP:0002813	Abnormal limb bone morphology	338433	SNORD115-1	OMIM:176270
HP:0002813	Abnormal limb bone morphology	54551	MAGEL2	OMIM:176270
HP:0002813	Abnormal limb bone morphology	7681	MKRN3	OMIM:176270
HP:0002813	Abnormal limb bone morphology	145624	PWAR1	OMIM:176270
HP:0002813	Abnormal limb bone morphology	3653	IPW	OMIM:176270
HP:0002813	Abnormal limb bone morphology	791114	PWRN1	OMIM:176270
HP:0002813	Abnormal limb bone morphology	5965	RECQL	OMIM:620370
HP:0002813	Abnormal limb bone morphology	128	ADH5	OMIM:619151
HP:0002813	Abnormal limb bone morphology	126129	CPT1C	OMIM:616282
HP:0002813	Abnormal limb bone morphology	6263	RYR3	OMIM:620310
HP:0002813	Abnormal limb bone morphology	84572	GNPTG	OMIM:252605
HP:0002813	Abnormal limb bone morphology	10466	COG5	ORPHA:263487
HP:0002813	Abnormal limb bone morphology	84342	COG8	OMIM:611182
HP:0002813	Abnormal limb bone morphology	1747	DLX3	ORPHA:3352
HP:0002813	Abnormal limb bone morphology	1974	EIF4A2	OMIM:620455
HP:0002813	Abnormal limb bone morphology	26834	RNU4-2	OMIM:620851
HP:0002813	Abnormal limb bone morphology	3767	KCNJ11	ORPHA:79134
HP:0002813	Abnormal limb bone morphology	79731	NARS2	ORPHA:79134
HP:0002813	Abnormal limb bone morphology	6833	ABCC8	ORPHA:79134
HP:0002813	Abnormal limb bone morphology	2131	EXT1	ORPHA:321
HP:0002813	Abnormal limb bone morphology	2132	EXT2	ORPHA:321
HP:0002813	Abnormal limb bone morphology	4041	LRP5	ORPHA:2788
HP:0002813	Abnormal limb bone morphology	5605	MAP2K2	ORPHA:1340
HP:0002813	Abnormal limb bone morphology	175	AGA	ORPHA:93
HP:0002813	Abnormal limb bone morphology	25923	ATL3	OMIM:615632
HP:0002813	Abnormal limb bone morphology	7355	SLC35A2	ORPHA:356961
HP:0002813	Abnormal limb bone morphology	6899	TBX1	ORPHA:3384
HP:0002813	Abnormal limb bone morphology	137814	NKX2-6	ORPHA:3384
HP:0002813	Abnormal limb bone morphology	23129	PLXND1	ORPHA:3384
HP:0002813	Abnormal limb bone morphology	79639	TMEM53	OMIM:619727
HP:0002813	Abnormal limb bone morphology	55858	TMEM165	OMIM:614727
HP:0002813	Abnormal limb bone morphology	161742	SPRED1	ORPHA:137605
HP:0002813	Abnormal limb bone morphology	4763	NF1	ORPHA:97685
HP:0002813	Abnormal limb bone morphology	9361	LONP1	OMIM:600373
HP:0002813	Abnormal limb bone morphology	10940	POP1	OMIM:617396
HP:0002813	Abnormal limb bone morphology	79705	LRRK1	OMIM:615198
HP:0002813	Abnormal limb bone morphology	55325	UFSP2	OMIM:617974
HP:0002813	Abnormal limb bone morphology	10283	CWC27	OMIM:250410
HP:0002813	Abnormal limb bone morphology	9451	EIF2AK3	ORPHA:1667
HP:0002813	Abnormal limb bone morphology	5286	PIK3C2A	ORPHA:557003
HP:0002813	Abnormal limb bone morphology	860	RUNX2	OMIM:156510
HP:0002813	Abnormal limb bone morphology	51360	MBTPS2	OMIM:308205
HP:0002813	Abnormal limb bone morphology	51360	MBTPS2	ORPHA:2273
HP:0002813	Abnormal limb bone morphology	8626	TP63	ORPHA:1896
HP:0002813	Abnormal limb bone morphology	8626	TP63	OMIM:605289
HP:0002813	Abnormal limb bone morphology	8626	TP63	OMIM:604292
HP:0002813	Abnormal limb bone morphology	3481	IGF2	ORPHA:397590
HP:0002813	Abnormal limb bone morphology	1028	CDKN1C	ORPHA:397590
HP:0002813	Abnormal limb bone morphology	5324	PLAG1	ORPHA:397590
HP:0002813	Abnormal limb bone morphology	8091	HMGA2	ORPHA:397590
HP:0002813	Abnormal limb bone morphology	2260	FGFR1	OMIM:147950
HP:0002813	Abnormal limb bone morphology	2260	FGFR1	OMIM:615465
HP:0002813	Abnormal limb bone morphology	727857	BHLHA9	ORPHA:3329
HP:0002813	Abnormal limb bone morphology	727857	BHLHA9	ORPHA:1986
HP:0002813	Abnormal limb bone morphology	10054	UBA2	OMIM:619959
HP:0002813	Abnormal limb bone morphology	7476	WNT7A	ORPHA:2879
HP:0002813	Abnormal limb bone morphology	79971	WLS	OMIM:619648
HP:0002813	Abnormal limb bone morphology	1749	DLX5	OMIM:183600
HP:0002813	Abnormal limb bone morphology	348180	CTU2	OMIM:618142
HP:0002813	Abnormal limb bone morphology	1063	CENPF	OMIM:243605
HP:0002813	Abnormal limb bone morphology	26047	CNTNAP2	ORPHA:163681
HP:0002813	Abnormal limb bone morphology	26005	C2CD3	OMIM:615948
HP:0002813	Abnormal limb bone morphology	5518	PPP2R1A	OMIM:616362
HP:0002813	Abnormal limb bone morphology	5518	PPP2R1A	ORPHA:457284
HP:0002813	Abnormal limb bone morphology	3190	HNRNPK	ORPHA:453504
HP:0002813	Abnormal limb bone morphology	3190	HNRNPK	OMIM:616580
HP:0002813	Abnormal limb bone morphology	3190	HNRNPK	ORPHA:352665
HP:0002813	Abnormal limb bone morphology	3021	H3-3B	OMIM:619721
HP:0002813	Abnormal limb bone morphology	9371	KIF3B	OMIM:618955
HP:0002813	Abnormal limb bone morphology	1482	NKX2-5	OMIM:217095
HP:0002813	Abnormal limb bone morphology	2627	GATA6	OMIM:217095
HP:0002813	Abnormal limb bone morphology	5296	PIK3R2	OMIM:603387
HP:0002813	Abnormal limb bone morphology	286204	CRB2	OMIM:219730
HP:0002813	Abnormal limb bone morphology	57511	COG6	OMIM:614576
HP:0002813	Abnormal limb bone morphology	7046	TGFBR1	OMIM:609192
HP:0002813	Abnormal limb bone morphology	84300	UQCC2	OMIM:615824
HP:0002813	Abnormal limb bone morphology	5528	PPP2R5D	ORPHA:457279
HP:0002813	Abnormal limb bone morphology	54968	TMEM70	ORPHA:1194
HP:0002813	Abnormal limb bone morphology	84466	MEGF10	OMIM:614399
HP:0002813	Abnormal limb bone morphology	3508	IGHMBP2	OMIM:604320
HP:0002813	Abnormal limb bone morphology	5190	PEX6	ORPHA:3220
HP:0002813	Abnormal limb bone morphology	5913	RAPSN	ORPHA:994
HP:0002813	Abnormal limb bone morphology	6572	SLC18A3	ORPHA:994
HP:0002813	Abnormal limb bone morphology	26092	TOR1AIP1	OMIM:617072
HP:0002813	Abnormal limb bone morphology	9775	EIF4A3	OMIM:268305
HP:0002813	Abnormal limb bone morphology	26277	TINF2	ORPHA:1775
HP:0002813	Abnormal limb bone morphology	55651	NHP2	ORPHA:1775
HP:0002813	Abnormal limb bone morphology	79650	USB1	ORPHA:1775
HP:0002813	Abnormal limb bone morphology	55135	WRAP53	ORPHA:1775
HP:0002813	Abnormal limb bone morphology	51750	RTEL1	ORPHA:1775
HP:0002813	Abnormal limb bone morphology	4869	NPM1	ORPHA:1775
HP:0002813	Abnormal limb bone morphology	7012	TERC	ORPHA:1775
HP:0002813	Abnormal limb bone morphology	55505	NOP10	ORPHA:1775
HP:0002813	Abnormal limb bone morphology	5073	PARN	ORPHA:1775
HP:0002813	Abnormal limb bone morphology	7015	TERT	ORPHA:1775
HP:0002813	Abnormal limb bone morphology	1736	DKC1	ORPHA:1775
HP:0002813	Abnormal limb bone morphology	7298	TYMS	ORPHA:1775
HP:0002813	Abnormal limb bone morphology	1656	DDX6	OMIM:618653
HP:0002813	Abnormal limb bone morphology	57479	PRR12	OMIM:619539
HP:0002813	Abnormal limb bone morphology	6335	SCN9A	ORPHA:33069
HP:0002813	Abnormal limb bone morphology	6335	SCN9A	ORPHA:36387
HP:0002813	Abnormal limb bone morphology	2554	GABRA1	ORPHA:33069
HP:0002813	Abnormal limb bone morphology	57526	PCDH19	ORPHA:33069
HP:0002813	Abnormal limb bone morphology	2566	GABRG2	ORPHA:33069
HP:0002813	Abnormal limb bone morphology	2566	GABRG2	ORPHA:36387
HP:0002813	Abnormal limb bone morphology	112755	STX1B	ORPHA:36387
HP:0002813	Abnormal limb bone morphology	112476	PRRT2	ORPHA:36387
HP:0002813	Abnormal limb bone morphology	348980	HCN1	ORPHA:36387
HP:0002813	Abnormal limb bone morphology	2258	FGF13	ORPHA:36387
HP:0002813	Abnormal limb bone morphology	84059	ADGRV1	ORPHA:36387
HP:0002813	Abnormal limb bone morphology	2212	FCGR2A	OMIM:219700
HP:0002813	Abnormal limb bone morphology	3071	NCKAP1L	OMIM:618982
HP:0002813	Abnormal limb bone morphology	114548	NLRP3	OMIM:191900
HP:0002813	Abnormal limb bone morphology	182	JAG1	OMIM:619574
HP:0002813	Abnormal limb bone morphology	987	LRBA	OMIM:614700
HP:0002813	Abnormal limb bone morphology	729238	SFTPA2	ORPHA:2032
HP:0002813	Abnormal limb bone morphology	729238	SFTPA2	OMIM:178500
HP:0002813	Abnormal limb bone morphology	79991	STN1	ORPHA:2032
HP:0002813	Abnormal limb bone morphology	727897	MUC5B	ORPHA:2032
HP:0002813	Abnormal limb bone morphology	727897	MUC5B	OMIM:178500
HP:0002813	Abnormal limb bone morphology	10144	FAM13A	ORPHA:2032
HP:0002813	Abnormal limb bone morphology	23250	ATP11A	ORPHA:2032
HP:0002813	Abnormal limb bone morphology	91039	DPP9	ORPHA:2032
HP:0002813	Abnormal limb bone morphology	10804	GJB6	ORPHA:189
HP:0002813	Abnormal limb bone morphology	440275	EIF2AK4	ORPHA:199241
HP:0002813	Abnormal limb bone morphology	10568	SLC34A2	ORPHA:60025
HP:0002813	Abnormal limb bone morphology	8884	SLC5A6	OMIM:618973
HP:0002813	Abnormal limb bone morphology	10125	RASGRP1	OMIM:618534
HP:0002813	Abnormal limb bone morphology	59067	IL21	OMIM:615767
HP:0002813	Abnormal limb bone morphology	7092	TLL1	ORPHA:99106
HP:0002813	Abnormal limb bone morphology	7319	UBE2A	ORPHA:163956
HP:0002813	Abnormal limb bone morphology	79651	RHBDF2	ORPHA:2198
HP:0002813	Abnormal limb bone morphology	64132	XYLT2	OMIM:605822
HP:0002813	Abnormal limb bone morphology	274	BIN1	ORPHA:169186
HP:0002813	Abnormal limb bone morphology	10290	SPEG	ORPHA:169186
HP:0002813	Abnormal limb bone morphology	6261	RYR1	ORPHA:169186
HP:0002813	Abnormal limb bone morphology	7273	TTN	ORPHA:169186
HP:0002813	Abnormal limb bone morphology	57459	GATAD2B	OMIM:615074
HP:0002813	Abnormal limb bone morphology	57459	GATAD2B	ORPHA:363686
HP:0002813	Abnormal limb bone morphology	8367	H4C5	OMIM:619950
HP:0002813	Abnormal limb bone morphology	1182	CLCN3	OMIM:619512
HP:0002813	Abnormal limb bone morphology	9853	RUSC2	OMIM:617773
HP:0002813	Abnormal limb bone morphology	51520	LARS1	OMIM:615438
HP:0002813	Abnormal limb bone morphology	54499	TMCO1	OMIM:213980
HP:0002813	Abnormal limb bone morphology	116931	MED12L	OMIM:618872
HP:0002813	Abnormal limb bone morphology	203068	TUBB	OMIM:156610
HP:0002813	Abnormal limb bone morphology	60676	PAPPA2	OMIM:619489
HP:0002813	Abnormal limb bone morphology	1278	COL1A2	ORPHA:230851
HP:0002813	Abnormal limb bone morphology	2624	GATA2	OMIM:614038
HP:0002813	Abnormal limb bone morphology	9373	PLAA	ORPHA:521426
HP:0002813	Abnormal limb bone morphology	9373	PLAA	OMIM:617527
HP:0002813	Abnormal limb bone morphology	10982	MAPRE2	OMIM:616734
HP:0002813	Abnormal limb bone morphology	2556	GABRA3	OMIM:301091
HP:0002813	Abnormal limb bone morphology	1376	CPT2	OMIM:608836
HP:0002813	Abnormal limb bone morphology	5373	PMM2	ORPHA:79318
HP:0002813	Abnormal limb bone morphology	51651	PTRH2	OMIM:616263
HP:0002813	Abnormal limb bone morphology	51651	PTRH2	ORPHA:456312
HP:0002813	Abnormal limb bone morphology	63035	BCORL1	OMIM:301029
HP:0002813	Abnormal limb bone morphology	6709	SPTAN1	OMIM:620528
HP:0002813	Abnormal limb bone morphology	6611	SMS	OMIM:309583
HP:0002813	Abnormal limb bone morphology	79087	ALG12	ORPHA:79324
HP:0002813	Abnormal limb bone morphology	1795	DOCK3	OMIM:618292
HP:0002813	Abnormal limb bone morphology	9496	TBX4	ORPHA:261279
HP:0002813	Abnormal limb bone morphology	57178	ZMIZ1	OMIM:618659
HP:0002813	Abnormal limb bone morphology	92949	ADAMTSL1	ORPHA:521445
HP:0002813	Abnormal limb bone morphology	9990	SLC12A6	OMIM:218000
HP:0002813	Abnormal limb bone morphology	55768	NGLY1	ORPHA:404454
HP:0002813	Abnormal limb bone morphology	9842	PLEKHM1	OMIM:611497
HP:0002813	Abnormal limb bone morphology	781	CACNA2D1	OMIM:620149
HP:0002813	Abnormal limb bone morphology	123263	MTFMT	OMIM:614947
HP:0002813	Abnormal limb bone morphology	388662	SLC6A17	OMIM:616269
HP:0002813	Abnormal limb bone morphology	1801	DPH1	ORPHA:459061
HP:0002813	Abnormal limb bone morphology	55159	RFWD3	OMIM:617784
HP:0002813	Abnormal limb bone morphology	2184	FAH	OMIM:276700
HP:0002814	Abnormality of the lower limb	3858	KRT10	OMIM:607602
HP:0002814	Abnormality of the lower limb	3858	KRT10	OMIM:620150
HP:0002814	Abnormality of the lower limb	3858	KRT10	OMIM:609165
HP:0002814	Abnormality of the lower limb	121214	SDR9C7	OMIM:617574
HP:0002814	Abnormality of the lower limb	55505	NOP10	OMIM:224230
HP:0002814	Abnormality of the lower limb	55651	NHP2	OMIM:224230
HP:0002814	Abnormality of the lower limb	11012	KLK11	OMIM:620507
HP:0002814	Abnormality of the lower limb	121391	KRT74	OMIM:194300
HP:0002814	Abnormality of the lower limb	3891	KRT85	OMIM:602032
HP:0002814	Abnormality of the lower limb	7373	COL14A1	ORPHA:79501
HP:0002814	Abnormality of the lower limb	79719	AAGAB	ORPHA:79501
HP:0002814	Abnormality of the lower limb	57511	COG6	ORPHA:363523
HP:0002814	Abnormality of the lower limb	57511	COG6	OMIM:615328
HP:0002814	Abnormality of the lower limb	22861	NLRP1	OMIM:617388
HP:0002814	Abnormality of the lower limb	55612	FERMT1	OMIM:173650
HP:0002814	Abnormality of the lower limb	7015	TERT	OMIM:613989
HP:0002814	Abnormality of the lower limb	3889	KRT83	OMIM:617756
HP:0002814	Abnormality of the lower limb	2531	KDSR	OMIM:617526
HP:0002814	Abnormality of the lower limb	4014	LORICRIN	ORPHA:79395
HP:0002814	Abnormality of the lower limb	4047	LSS	ORPHA:1366
HP:0002814	Abnormality of the lower limb	79092	CARD14	OMIM:173200
HP:0002814	Abnormality of the lower limb	79092	CARD14	ORPHA:2897
HP:0002814	Abnormality of the lower limb	1308	COL17A1	ORPHA:79406
HP:0002814	Abnormality of the lower limb	1308	COL17A1	ORPHA:79402
HP:0002814	Abnormality of the lower limb	162	AP1B1	OMIM:242150
HP:0002814	Abnormality of the lower limb	4574	MT-TS1	ORPHA:2202
HP:0002814	Abnormality of the lower limb	1824	DSC2	OMIM:610476
HP:0002814	Abnormality of the lower limb	3849	KRT2	ORPHA:455
HP:0002814	Abnormality of the lower limb	3909	LAMA3	ORPHA:79402
HP:0002814	Abnormality of the lower limb	3918	LAMC2	ORPHA:79402
HP:0002814	Abnormality of the lower limb	6898	TAT	ORPHA:28378
HP:0002814	Abnormality of the lower limb	10483	SEC23B	ORPHA:201
HP:0002814	Abnormality of the lower limb	6390	SDHB	ORPHA:201
HP:0002814	Abnormality of the lower limb	6392	SDHD	ORPHA:201
HP:0002814	Abnormality of the lower limb	6391	SDHC	ORPHA:201
HP:0002814	Abnormality of the lower limb	205717	USF3	ORPHA:201
HP:0002814	Abnormality of the lower limb	100144748	KLLN	ORPHA:201
HP:0002814	Abnormality of the lower limb	1475	CSTA	OMIM:607936
HP:0002814	Abnormality of the lower limb	285848	PNPLA1	OMIM:615024
HP:0002814	Abnormality of the lower limb	285848	PNPLA1	ORPHA:79394
HP:0002814	Abnormality of the lower limb	23328	SASH1	OMIM:618373
HP:0002814	Abnormality of the lower limb	1474	CST6	OMIM:618535
HP:0002814	Abnormality of the lower limb	412	STS	OMIM:308100
HP:0002814	Abnormality of the lower limb	54795	TRPM4	ORPHA:316
HP:0002814	Abnormality of the lower limb	126410	CYP4F22	OMIM:604777
HP:0002814	Abnormality of the lower limb	348938	NIPAL4	OMIM:612281
HP:0002814	Abnormality of the lower limb	348938	NIPAL4	ORPHA:79394
HP:0002814	Abnormality of the lower limb	51371	POMP	ORPHA:281201
HP:0002814	Abnormality of the lower limb	25959	KANK2	OMIM:616099
HP:0002814	Abnormality of the lower limb	57192	MCOLN1	ORPHA:578
HP:0002814	Abnormality of the lower limb	1493	CTLA4	ORPHA:3162
HP:0002814	Abnormality of the lower limb	940	CD28	ORPHA:3162
HP:0002814	Abnormality of the lower limb	7133	TNFRSF1B	ORPHA:3162
HP:0002814	Abnormality of the lower limb	9342	SNAP29	OMIM:609528
HP:0002814	Abnormality of the lower limb	10848	PPP1R13L	OMIM:620519
HP:0002814	Abnormality of the lower limb	79977	GRHL2	OMIM:616029
HP:0002814	Abnormality of the lower limb	79644	SRD5A3	ORPHA:324737
HP:0002814	Abnormality of the lower limb	55135	WRAP53	ORPHA:1775
HP:0002814	Abnormality of the lower limb	51750	RTEL1	ORPHA:1775
HP:0002814	Abnormality of the lower limb	4869	NPM1	ORPHA:1775
HP:0002814	Abnormality of the lower limb	7012	TERC	ORPHA:1775
HP:0002814	Abnormality of the lower limb	5073	PARN	ORPHA:1775
HP:0002814	Abnormality of the lower limb	1736	DKC1	ORPHA:1775
HP:0002814	Abnormality of the lower limb	7298	TYMS	ORPHA:1775
HP:0002814	Abnormality of the lower limb	127534	GJB4	OMIM:617524
HP:0002814	Abnormality of the lower limb	7286	TUFT1	OMIM:620415
HP:0002814	Abnormality of the lower limb	204219	CERS3	ORPHA:79394
HP:0002814	Abnormality of the lower limb	6820	SULT2B1	ORPHA:79394
HP:0002814	Abnormality of the lower limb	6628	SNRPB	OMIM:117650
HP:0002814	Abnormality of the lower limb	1182	CLCN3	OMIM:619512
HP:0002814	Abnormality of the lower limb	2138	EYA1	OMIM:113650
HP:0002814	Abnormality of the lower limb	6495	SIX1	OMIM:113650
HP:0002814	Abnormality of the lower limb	5048	PAFAH1B1	ORPHA:217385
HP:0002814	Abnormality of the lower limb	7531	YWHAE	ORPHA:217385
HP:0002814	Abnormality of the lower limb	6904	TBCD	ORPHA:496641
HP:0002814	Abnormality of the lower limb	7547	ZIC3	OMIM:306955
HP:0002814	Abnormality of the lower limb	5528	PPP2R5D	ORPHA:457279
HP:0002814	Abnormality of the lower limb	5528	PPP2R5D	OMIM:616355
HP:0002814	Abnormality of the lower limb	50628	GEMIN4	OMIM:617913
HP:0002814	Abnormality of the lower limb	7067	THRA	OMIM:614450
HP:0002814	Abnormality of the lower limb	4035	LRP1	OMIM:620690
HP:0002814	Abnormality of the lower limb	368	ABCC6	ORPHA:51608
HP:0002814	Abnormality of the lower limb	57104	PNPLA2	ORPHA:565612
HP:0002814	Abnormality of the lower limb	55958	KLHL9	ORPHA:399081
HP:0002814	Abnormality of the lower limb	7415	VCP	ORPHA:329478
HP:0002814	Abnormality of the lower limb	22943	DKK1	ORPHA:268882
HP:0002814	Abnormality of the lower limb	57531	HACE1	ORPHA:464282
HP:0002814	Abnormality of the lower limb	2254	FGF9	OMIM:612961
HP:0002814	Abnormality of the lower limb	59341	TRPV4	OMIM:184252
HP:0002814	Abnormality of the lower limb	29957	SLC25A24	ORPHA:2095
HP:0002814	Abnormality of the lower limb	3094	HINT1	ORPHA:324442
HP:0002814	Abnormality of the lower limb	3094	HINT1	OMIM:137200
HP:0002814	Abnormality of the lower limb	1778	DYNC1H1	OMIM:158600
HP:0002814	Abnormality of the lower limb	8506	CNTNAP1	OMIM:618186
HP:0002814	Abnormality of the lower limb	1859	DYRK1A	ORPHA:268261
HP:0002814	Abnormality of the lower limb	8838	CCN6	OMIM:208230
HP:0002814	Abnormality of the lower limb	6873	TAF2	OMIM:615599
HP:0002814	Abnormality of the lower limb	6873	TAF2	ORPHA:397951
HP:0002814	Abnormality of the lower limb	249	ALPL	OMIM:146300
HP:0002814	Abnormality of the lower limb	9508	ADAMTS3	ORPHA:2136
HP:0002814	Abnormality of the lower limb	147372	CCBE1	ORPHA:2136
HP:0002814	Abnormality of the lower limb	79633	FAT4	ORPHA:2136
HP:0002814	Abnormality of the lower limb	91754	NEK9	ORPHA:64754
HP:0002814	Abnormality of the lower limb	4747	NEFL	ORPHA:99939
HP:0002814	Abnormality of the lower limb	51259	TMEM216	OMIM:608091
HP:0002814	Abnormality of the lower limb	658	BMPR1B	OMIM:616849
HP:0002814	Abnormality of the lower limb	6571	SLC18A2	ORPHA:352649
HP:0002814	Abnormality of the lower limb	5447	POR	ORPHA:95699
HP:0002814	Abnormality of the lower limb	10743	RAI1	ORPHA:477817
HP:0002814	Abnormality of the lower limb	10479	SLC9A6	OMIM:300243
HP:0002814	Abnormality of the lower limb	57152	SLURP1	ORPHA:87503
HP:0002814	Abnormality of the lower limb	4649	MYO9A	OMIM:618198
HP:0002814	Abnormality of the lower limb	1723	DHODH	OMIM:263750
HP:0002814	Abnormality of the lower limb	84162	BLTP1	OMIM:617822
HP:0002814	Abnormality of the lower limb	3035	HARS1	ORPHA:488333
HP:0002814	Abnormality of the lower limb	51010	EXOSC3	OMIM:614678
HP:0002814	Abnormality of the lower limb	11160	ERLIN2	OMIM:620512
HP:0002814	Abnormality of the lower limb	6299	SALL1	ORPHA:857
HP:0002814	Abnormality of the lower limb	51339	DACT1	ORPHA:857
HP:0002814	Abnormality of the lower limb	7443	VRK1	OMIM:607596
HP:0002814	Abnormality of the lower limb	8565	YARS1	OMIM:608323
HP:0002814	Abnormality of the lower limb	1376	CPT2	OMIM:608836
HP:0002814	Abnormality of the lower limb	427	ASAH1	ORPHA:333
HP:0002814	Abnormality of the lower limb	5264	PHYH	ORPHA:773
HP:0002814	Abnormality of the lower limb	5191	PEX7	ORPHA:773
HP:0002814	Abnormality of the lower limb	26503	SLC17A5	OMIM:269920
HP:0002814	Abnormality of the lower limb	1107	CHD3	OMIM:618205
HP:0002814	Abnormality of the lower limb	79784	MYH14	OMIM:614369
HP:0002814	Abnormality of the lower limb	4000	LMNA	ORPHA:168796
HP:0002814	Abnormality of the lower limb	4000	LMNA	ORPHA:98856
HP:0002814	Abnormality of the lower limb	1280	COL2A1	ORPHA:94068
HP:0002814	Abnormality of the lower limb	1280	COL2A1	OMIM:200610
HP:0002814	Abnormality of the lower limb	4621	MYH3	ORPHA:2990
HP:0002814	Abnormality of the lower limb	1146	CHRNG	ORPHA:2990
HP:0002814	Abnormality of the lower limb	81846	SBF2	ORPHA:99956
HP:0002814	Abnormality of the lower limb	672	BRCA1	ORPHA:84
HP:0002814	Abnormality of the lower limb	10459	MAD2L2	ORPHA:84
HP:0002814	Abnormality of the lower limb	7516	XRCC2	ORPHA:84
HP:0002814	Abnormality of the lower limb	29089	UBE2T	ORPHA:84
HP:0002814	Abnormality of the lower limb	675	BRCA2	ORPHA:84
HP:0002814	Abnormality of the lower limb	55120	FANCL	ORPHA:84
HP:0002814	Abnormality of the lower limb	2177	FANCD2	ORPHA:84
HP:0002814	Abnormality of the lower limb	2175	FANCA	ORPHA:84
HP:0002814	Abnormality of the lower limb	2187	FANCB	ORPHA:84
HP:0002814	Abnormality of the lower limb	2176	FANCC	ORPHA:84
HP:0002814	Abnormality of the lower limb	2178	FANCE	ORPHA:84
HP:0002814	Abnormality of the lower limb	2188	FANCF	ORPHA:84
HP:0002814	Abnormality of the lower limb	2189	FANCG	ORPHA:84
HP:0002814	Abnormality of the lower limb	5888	RAD51	ORPHA:84
HP:0002814	Abnormality of the lower limb	5889	RAD51C	ORPHA:84
HP:0002814	Abnormality of the lower limb	55159	RFWD3	ORPHA:84
HP:0002814	Abnormality of the lower limb	83990	BRIP1	ORPHA:84
HP:0002814	Abnormality of the lower limb	57697	FANCM	ORPHA:84
HP:0002814	Abnormality of the lower limb	79728	PALB2	ORPHA:84
HP:0002814	Abnormality of the lower limb	84464	SLX4	ORPHA:84
HP:0002814	Abnormality of the lower limb	2072	ERCC4	ORPHA:84
HP:0002814	Abnormality of the lower limb	55215	FANCI	ORPHA:84
HP:0002814	Abnormality of the lower limb	23389	MED13L	ORPHA:369891
HP:0002814	Abnormality of the lower limb	10804	GJB6	OMIM:129500
HP:0002814	Abnormality of the lower limb	3098	HK1	ORPHA:99953
HP:0002814	Abnormality of the lower limb	1277	COL1A1	ORPHA:287
HP:0002814	Abnormality of the lower limb	1289	COL5A1	ORPHA:287
HP:0002814	Abnormality of the lower limb	1290	COL5A2	ORPHA:287
HP:0002814	Abnormality of the lower limb	1001	CDH3	OMIM:601553
HP:0002814	Abnormality of the lower limb	10397	NDRG1	ORPHA:99950
HP:0002814	Abnormality of the lower limb	23111	SPART	ORPHA:101000
HP:0002814	Abnormality of the lower limb	26278	SACS	ORPHA:98
HP:0002814	Abnormality of the lower limb	10815	CPLX1	ORPHA:280
HP:0002814	Abnormality of the lower limb	54872	PIGG	ORPHA:280
HP:0002814	Abnormality of the lower limb	7469	NELFA	ORPHA:280
HP:0002814	Abnormality of the lower limb	1487	CTBP1	ORPHA:280
HP:0002814	Abnormality of the lower limb	3954	LETM1	ORPHA:280
HP:0002814	Abnormality of the lower limb	7468	NSD2	ORPHA:280
HP:0002814	Abnormality of the lower limb	51651	PTRH2	ORPHA:456312
HP:0002814	Abnormality of the lower limb	26053	AUTS2	ORPHA:352490
HP:0002814	Abnormality of the lower limb	7305	TYROBP	OMIM:221770
HP:0002814	Abnormality of the lower limb	5277	PIGA	OMIM:300868
HP:0002814	Abnormality of the lower limb	23400	ATP13A2	ORPHA:306674
HP:0002814	Abnormality of the lower limb	22948	CCT5	OMIM:256840
HP:0002814	Abnormality of the lower limb	3178	HNRNPA1	OMIM:610099
HP:0002814	Abnormality of the lower limb	54332	GDAP1	ORPHA:99948
HP:0002814	Abnormality of the lower limb	79628	SH3TC2	ORPHA:99949
HP:0002814	Abnormality of the lower limb	6857	SYT1	OMIM:618218
HP:0002814	Abnormality of the lower limb	8642	DCHS1	OMIM:601390
HP:0002814	Abnormality of the lower limb	2395	FXN	ORPHA:95
HP:0002814	Abnormality of the lower limb	9927	MFN2	ORPHA:99947
HP:0002814	Abnormality of the lower limb	165	AEBP1	ORPHA:536532
HP:0002814	Abnormality of the lower limb	875	CBS	ORPHA:394
HP:0002814	Abnormality of the lower limb	9853	RUSC2	OMIM:617773
HP:0002814	Abnormality of the lower limb	10973	ASCC3	OMIM:620700
HP:0002814	Abnormality of the lower limb	4897	NRCAM	OMIM:619833
HP:0002814	Abnormality of the lower limb	5165	PDK3	OMIM:300905
HP:0002814	Abnormality of the lower limb	5165	PDK3	ORPHA:352675
HP:0002814	Abnormality of the lower limb	84942	WDR73	OMIM:251300
HP:0002814	Abnormality of the lower limb	6687	SPG7	ORPHA:99013
HP:0002814	Abnormality of the lower limb	6687	SPG7	OMIM:607259
HP:0002814	Abnormality of the lower limb	3074	HEXB	ORPHA:309162
HP:0002814	Abnormality of the lower limb	8566	PDXK	OMIM:618511
HP:0002814	Abnormality of the lower limb	3021	H3-3B	OMIM:619721
HP:0002814	Abnormality of the lower limb	128486	FITM2	OMIM:618635
HP:0002814	Abnormality of the lower limb	23321	TRIM2	OMIM:615490
HP:0002814	Abnormality of the lower limb	7345	UCHL1	OMIM:615491
HP:0002814	Abnormality of the lower limb	284058	KANSL1	ORPHA:363958
HP:0002814	Abnormality of the lower limb	284058	KANSL1	ORPHA:363965
HP:0002814	Abnormality of the lower limb	55154	MSTO1	OMIM:617675
HP:0002814	Abnormality of the lower limb	55154	MSTO1	ORPHA:502423
HP:0002814	Abnormality of the lower limb	57449	PLEKHG5	OMIM:615376
HP:0002814	Abnormality of the lower limb	81857	MED25	ORPHA:464738
HP:0002814	Abnormality of the lower limb	5832	ALDH18A1	OMIM:601162
HP:0002814	Abnormality of the lower limb	5832	ALDH18A1	ORPHA:447757
HP:0002814	Abnormality of the lower limb	5832	ALDH18A1	ORPHA:447753
HP:0002814	Abnormality of the lower limb	4763	NF1	ORPHA:363700
HP:0002814	Abnormality of the lower limb	83636	C19orf12	OMIM:614298
HP:0002814	Abnormality of the lower limb	83636	C19orf12	OMIM:615043
HP:0002814	Abnormality of the lower limb	833	CARS1	OMIM:618891
HP:0002814	Abnormality of the lower limb	2903	GRIN2A	ORPHA:289266
HP:0002814	Abnormality of the lower limb	2903	GRIN2A	OMIM:245570
HP:0002814	Abnormality of the lower limb	51271	UBAP1	OMIM:618418
HP:0002814	Abnormality of the lower limb	51271	UBAP1	ORPHA:100993
HP:0002814	Abnormality of the lower limb	54840	APTX	OMIM:208920
HP:0002814	Abnormality of the lower limb	55361	PI4K2A	OMIM:620732
HP:0002814	Abnormality of the lower limb	5192	PEX10	ORPHA:247815
HP:0002814	Abnormality of the lower limb	5192	PEX10	OMIM:614871
HP:0002814	Abnormality of the lower limb	9897	WASHC5	OMIM:603563
HP:0002814	Abnormality of the lower limb	9897	WASHC5	ORPHA:100989
HP:0002814	Abnormality of the lower limb	85301	COL27A1	OMIM:615155
HP:0002814	Abnormality of the lower limb	23312	DMXL2	ORPHA:453533
HP:0002814	Abnormality of the lower limb	84665	MYPN	OMIM:617336
HP:0002814	Abnormality of the lower limb	84665	MYPN	ORPHA:171439
HP:0002814	Abnormality of the lower limb	58	ACTA1	OMIM:161800
HP:0002814	Abnormality of the lower limb	58	ACTA1	ORPHA:2020
HP:0002814	Abnormality of the lower limb	58	ACTA1	ORPHA:171439
HP:0002814	Abnormality of the lower limb	26137	ZBTB20	OMIM:259050
HP:0002814	Abnormality of the lower limb	2720	GLB1	OMIM:230650
HP:0002814	Abnormality of the lower limb	56652	TWNK	OMIM:616138
HP:0002814	Abnormality of the lower limb	56652	TWNK	OMIM:607459
HP:0002814	Abnormality of the lower limb	23096	IQSEC2	ORPHA:217377
HP:0002814	Abnormality of the lower limb	11261	CHP1	OMIM:618438
HP:0002814	Abnormality of the lower limb	10280	SIGMAR1	OMIM:605726
HP:0002814	Abnormality of the lower limb	3423	IDS	OMIM:309900
HP:0002814	Abnormality of the lower limb	339855	KY	OMIM:617114
HP:0002814	Abnormality of the lower limb	3930	LBR	OMIM:169400
HP:0002814	Abnormality of the lower limb	6885	MAP3K7	ORPHA:1826
HP:0002814	Abnormality of the lower limb	3730	ANOS1	OMIM:308700
HP:0002814	Abnormality of the lower limb	3730	ANOS1	ORPHA:478
HP:0002814	Abnormality of the lower limb	10533	ATG7	OMIM:619422
HP:0002814	Abnormality of the lower limb	1337	COX6A1	OMIM:616039
HP:0002814	Abnormality of the lower limb	2583	B4GALNT1	OMIM:609195
HP:0002814	Abnormality of the lower limb	2583	B4GALNT1	ORPHA:101006
HP:0002814	Abnormality of the lower limb	2260	FGFR1	ORPHA:478
HP:0002814	Abnormality of the lower limb	10371	SEMA3A	ORPHA:478
HP:0002814	Abnormality of the lower limb	81848	SPRY4	ORPHA:478
HP:0002814	Abnormality of the lower limb	23767	FLRT3	ORPHA:478
HP:0002814	Abnormality of the lower limb	128674	PROKR2	ORPHA:478
HP:0002814	Abnormality of the lower limb	79625	NDNF	ORPHA:478
HP:0002814	Abnormality of the lower limb	2253	FGF8	ORPHA:478
HP:0002814	Abnormality of the lower limb	389549	FEZF1	ORPHA:478
HP:0002814	Abnormality of the lower limb	1630	DCC	ORPHA:478
HP:0002814	Abnormality of the lower limb	54756	IL17RD	ORPHA:478
HP:0002814	Abnormality of the lower limb	6663	SOX10	ORPHA:478
HP:0002814	Abnormality of the lower limb	6663	SOX10	OMIM:609136
HP:0002814	Abnormality of the lower limb	285025	CCDC141	ORPHA:478
HP:0002814	Abnormality of the lower limb	60675	PROK2	ORPHA:478
HP:0002814	Abnormality of the lower limb	55636	CHD7	ORPHA:478
HP:0002814	Abnormality of the lower limb	1848	DUSP6	ORPHA:478
HP:0002814	Abnormality of the lower limb	6870	TACR3	ORPHA:478
HP:0002814	Abnormality of the lower limb	55717	WDR11	ORPHA:478
HP:0002814	Abnormality of the lower limb	9394	HS6ST1	ORPHA:478
HP:0002814	Abnormality of the lower limb	8820	HESX1	ORPHA:478
HP:0002814	Abnormality of the lower limb	8822	FGF17	ORPHA:478
HP:0002814	Abnormality of the lower limb	112	ADCY6	OMIM:616287
HP:0002814	Abnormality of the lower limb	23345	SYNE1	ORPHA:88644
HP:0002814	Abnormality of the lower limb	23345	SYNE1	OMIM:610743
HP:0002814	Abnormality of the lower limb	79912	PYROXD1	OMIM:617258
HP:0002814	Abnormality of the lower limb	9256	TSPOAP1	ORPHA:101150
HP:0002814	Abnormality of the lower limb	7054	TH	ORPHA:101150
HP:0002814	Abnormality of the lower limb	2706	GJB2	OMIM:602540
HP:0002814	Abnormality of the lower limb	2706	GJB2	OMIM:148210
HP:0002814	Abnormality of the lower limb	123606	NIPA1	OMIM:600363
HP:0002814	Abnormality of the lower limb	123606	NIPA1	ORPHA:100988
HP:0002814	Abnormality of the lower limb	2581	GALC	ORPHA:206443
HP:0002814	Abnormality of the lower limb	2581	GALC	ORPHA:206448
HP:0002814	Abnormality of the lower limb	478	ATP1A3	OMIM:601338
HP:0002814	Abnormality of the lower limb	478	ATP1A3	ORPHA:1171
HP:0002814	Abnormality of the lower limb	5610	EIF2AK2	OMIM:619687
HP:0002814	Abnormality of the lower limb	25885	POLR1A	OMIM:620675
HP:0002814	Abnormality of the lower limb	10059	DNM1L	ORPHA:98673
HP:0002814	Abnormality of the lower limb	4976	OPA1	ORPHA:98673
HP:0002814	Abnormality of the lower limb	4976	OPA1	ORPHA:1215
HP:0002814	Abnormality of the lower limb	114548	NLRP3	ORPHA:575
HP:0002814	Abnormality of the lower limb	11145	PLAAT3	OMIM:620683
HP:0002814	Abnormality of the lower limb	23203	PMPCA	OMIM:213200
HP:0002814	Abnormality of the lower limb	7703	PCGF2	OMIM:618371
HP:0002814	Abnormality of the lower limb	112812	FDX2	OMIM:251900
HP:0002814	Abnormality of the lower limb	80821	DDHD1	ORPHA:101008
HP:0002814	Abnormality of the lower limb	80821	DDHD1	OMIM:609340
HP:0002814	Abnormality of the lower limb	26040	SETBP1	OMIM:616078
HP:0002814	Abnormality of the lower limb	9531	BAG3	OMIM:612954
HP:0002814	Abnormality of the lower limb	65260	COA7	OMIM:618387
HP:0002814	Abnormality of the lower limb	9197	SLC33A1	ORPHA:171863
HP:0002814	Abnormality of the lower limb	9197	SLC33A1	OMIM:612539
HP:0002814	Abnormality of the lower limb	145173	B3GLCT	OMIM:261540
HP:0002814	Abnormality of the lower limb	4361	MRE11	ORPHA:251347
HP:0002814	Abnormality of the lower limb	3032	HADHB	ORPHA:746
HP:0002814	Abnormality of the lower limb	3030	HADHA	ORPHA:746
HP:0002814	Abnormality of the lower limb	29926	GMPPA	ORPHA:869
HP:0002814	Abnormality of the lower limb	60684	TRAPPC11	ORPHA:869
HP:0002814	Abnormality of the lower limb	8086	AAAS	ORPHA:869
HP:0002814	Abnormality of the lower limb	476	ATP1A1	OMIM:618036
HP:0002814	Abnormality of the lower limb	6253	RTN2	OMIM:604805
HP:0002814	Abnormality of the lower limb	6253	RTN2	ORPHA:100993
HP:0002814	Abnormality of the lower limb	23230	VPS13A	OMIM:200150
HP:0002814	Abnormality of the lower limb	8450	CUL4B	ORPHA:85293
HP:0002814	Abnormality of the lower limb	8450	CUL4B	OMIM:300354
HP:0002814	Abnormality of the lower limb	57704	GBA2	ORPHA:320391
HP:0002814	Abnormality of the lower limb	57704	GBA2	OMIM:614409
HP:0002814	Abnormality of the lower limb	57704	GBA2	ORPHA:352641
HP:0002814	Abnormality of the lower limb	2799	GNS	OMIM:252940
HP:0002814	Abnormality of the lower limb	10084	PQBP1	OMIM:309500
HP:0002814	Abnormality of the lower limb	2629	GBA1	ORPHA:2072
HP:0002814	Abnormality of the lower limb	2629	GBA1	OMIM:231005
HP:0002814	Abnormality of the lower limb	89970	RSPRY1	ORPHA:457395
HP:0002814	Abnormality of the lower limb	5354	PLP1	OMIM:312920
HP:0002814	Abnormality of the lower limb	54936	ADPRS	OMIM:618170
HP:0002814	Abnormality of the lower limb	3839	KPNA3	ORPHA:171612
HP:0002814	Abnormality of the lower limb	1291	COL6A1	OMIM:158810
HP:0002814	Abnormality of the lower limb	9935	MAFB	OMIM:166300
HP:0002814	Abnormality of the lower limb	50846	DHH	ORPHA:168563
HP:0002814	Abnormality of the lower limb	2643	GCH1	OMIM:128230
HP:0002814	Abnormality of the lower limb	2643	GCH1	ORPHA:98808
HP:0002814	Abnormality of the lower limb	6535	SLC6A8	OMIM:300352
HP:0002814	Abnormality of the lower limb	91574	MTRFR	ORPHA:254930
HP:0002814	Abnormality of the lower limb	50717	DCAF8	OMIM:610100
HP:0002814	Abnormality of the lower limb	7138	TNNT1	OMIM:620389
HP:0002814	Abnormality of the lower limb	5111	PCNA	OMIM:615919
HP:0002814	Abnormality of the lower limb	4784	NFIX	ORPHA:447980
HP:0002814	Abnormality of the lower limb	80232	WDR26	ORPHA:513456
HP:0002814	Abnormality of the lower limb	80232	WDR26	OMIM:617616
HP:0002814	Abnormality of the lower limb	538	ATP7A	OMIM:300489
HP:0002814	Abnormality of the lower limb	729359	PLIN4	OMIM:601846
HP:0002814	Abnormality of the lower limb	5119	CHMP1A	OMIM:614961
HP:0002814	Abnormality of the lower limb	10558	SPTLC1	OMIM:620285
HP:0002814	Abnormality of the lower limb	10558	SPTLC1	OMIM:162400
HP:0002814	Abnormality of the lower limb	55187	VPS13D	ORPHA:95434
HP:0002814	Abnormality of the lower limb	55187	VPS13D	OMIM:607317
HP:0002814	Abnormality of the lower limb	27072	VPS41	ORPHA:95434
HP:0002814	Abnormality of the lower limb	823	CAPN1	OMIM:616907
HP:0002814	Abnormality of the lower limb	823	CAPN1	ORPHA:488594
HP:0002814	Abnormality of the lower limb	7274	TTPA	ORPHA:96
HP:0002814	Abnormality of the lower limb	57190	SELENON	ORPHA:2020
HP:0002814	Abnormality of the lower limb	4633	MYL2	ORPHA:2020
HP:0002814	Abnormality of the lower limb	3679	ITGA7	ORPHA:2020
HP:0002814	Abnormality of the lower limb	7169	TPM2	ORPHA:2020
HP:0002814	Abnormality of the lower limb	7169	TPM2	ORPHA:171439
HP:0002814	Abnormality of the lower limb	9200	HACD1	ORPHA:2020
HP:0002814	Abnormality of the lower limb	51776	MAP3K20	ORPHA:2020
HP:0002814	Abnormality of the lower limb	26090	ABHD12	OMIM:612674
HP:0002814	Abnormality of the lower limb	3735	KARS1	OMIM:613641
HP:0002814	Abnormality of the lower limb	3756	KCNH1	ORPHA:3473
HP:0002814	Abnormality of the lower limb	3782	KCNN3	ORPHA:3473
HP:0002814	Abnormality of the lower limb	3425	IDUA	OMIM:607016
HP:0002814	Abnormality of the lower limb	1593	CYP27A1	ORPHA:909
HP:0002814	Abnormality of the lower limb	4744	NEFH	OMIM:616924
HP:0002814	Abnormality of the lower limb	5828	PEX2	OMIM:614867
HP:0002814	Abnormality of the lower limb	2073	ERCC5	OMIM:278780
HP:0002814	Abnormality of the lower limb	8379	MAD1L1	OMIM:620189
HP:0002814	Abnormality of the lower limb	2259	FGF14	ORPHA:98764
HP:0002814	Abnormality of the lower limb	2259	FGF14	OMIM:193003
HP:0002814	Abnormality of the lower limb	23095	KIF1B	OMIM:118210
HP:0002814	Abnormality of the lower limb	81887	LAS1L	ORPHA:3459
HP:0002814	Abnormality of the lower limb	81887	LAS1L	OMIM:309585
HP:0002814	Abnormality of the lower limb	55869	HDAC8	ORPHA:3459
HP:0002814	Abnormality of the lower limb	4677	NARS1	OMIM:619092
HP:0002814	Abnormality of the lower limb	3300	DNAJB2	OMIM:614881
HP:0002814	Abnormality of the lower limb	390594	KBTBD13	ORPHA:171439
HP:0002814	Abnormality of the lower limb	4703	NEB	ORPHA:171439
HP:0002814	Abnormality of the lower limb	10324	KLHL41	ORPHA:171439
HP:0002814	Abnormality of the lower limb	2146	EZH2	OMIM:277590
HP:0002814	Abnormality of the lower limb	2146	EZH2	ORPHA:3447
HP:0002814	Abnormality of the lower limb	2961	GTF2E2	OMIM:616943
HP:0002814	Abnormality of the lower limb	85021	REPS1	OMIM:617916
HP:0002814	Abnormality of the lower limb	57679	ALS2	OMIM:607225
HP:0002814	Abnormality of the lower limb	4313	MMP2	OMIM:259600
HP:0002814	Abnormality of the lower limb	23512	SUZ12	ORPHA:3447
HP:0002814	Abnormality of the lower limb	3329	HSPD1	ORPHA:100994
HP:0002814	Abnormality of the lower limb	3991	LIPE	OMIM:615980
HP:0002814	Abnormality of the lower limb	51308	REEP2	OMIM:615625
HP:0002814	Abnormality of the lower limb	51308	REEP2	ORPHA:401849
HP:0002814	Abnormality of the lower limb	7319	UBE2A	ORPHA:163956
HP:0002814	Abnormality of the lower limb	10664	CTCF	OMIM:615502
HP:0002814	Abnormality of the lower limb	23064	SETX	OMIM:606002
HP:0002814	Abnormality of the lower limb	23064	SETX	ORPHA:357043
HP:0002814	Abnormality of the lower limb	9230	RAB11B	OMIM:617807
HP:0002814	Abnormality of the lower limb	5830	PEX5	OMIM:616716
HP:0002814	Abnormality of the lower limb	8729	GBF1	OMIM:606483
HP:0002814	Abnormality of the lower limb	10290	SPEG	ORPHA:169186
HP:0002814	Abnormality of the lower limb	7273	TTN	ORPHA:169186
HP:0002814	Abnormality of the lower limb	9420	CYP7B1	ORPHA:100986
HP:0002814	Abnormality of the lower limb	9420	CYP7B1	OMIM:270800
HP:0002814	Abnormality of the lower limb	9150	CTDP1	OMIM:604168
HP:0002814	Abnormality of the lower limb	56997	COQ8A	OMIM:612016
HP:0002814	Abnormality of the lower limb	90678	LRSAM1	OMIM:614436
HP:0002814	Abnormality of the lower limb	3897	L1CAM	OMIM:303350
HP:0002814	Abnormality of the lower limb	4131	MAP1B	OMIM:618918
HP:0002814	Abnormality of the lower limb	64135	IFIH1	OMIM:182250
HP:0002814	Abnormality of the lower limb	4204	MECP2	OMIM:300055
HP:0002814	Abnormality of the lower limb	2200	FBN1	OMIM:154700
HP:0002814	Abnormality of the lower limb	859	CAV3	OMIM:614321
HP:0002814	Abnormality of the lower limb	859	CAV3	ORPHA:488650
HP:0002814	Abnormality of the lower limb	91137	SLC25A46	OMIM:616505
HP:0002814	Abnormality of the lower limb	9361	LONP1	ORPHA:79243
HP:0002814	Abnormality of the lower limb	5160	PDHA1	ORPHA:79243
HP:0002814	Abnormality of the lower limb	64423	INF2	OMIM:614455
HP:0002814	Abnormality of the lower limb	9997	SCO2	OMIM:604377
HP:0002814	Abnormality of the lower limb	4929	NR4A2	ORPHA:98808
HP:0002814	Abnormality of the lower limb	3615	IMPDH2	ORPHA:98808
HP:0002814	Abnormality of the lower limb	5293	PIK3CD	ORPHA:221139
HP:0002814	Abnormality of the lower limb	90417	KNSTRN	ORPHA:221139
HP:0002814	Abnormality of the lower limb	7507	XPA	OMIM:278700
HP:0002814	Abnormality of the lower limb	26047	CNTNAP2	ORPHA:163681
HP:0002814	Abnormality of the lower limb	23556	PIGN	ORPHA:280633
HP:0002814	Abnormality of the lower limb	219285	SAMD9L	OMIM:619806
HP:0002814	Abnormality of the lower limb	3295	HSD17B4	OMIM:233400
HP:0002814	Abnormality of the lower limb	9516	LITAF	OMIM:601098
HP:0002814	Abnormality of the lower limb	2273	FHL1	OMIM:300280
HP:0002814	Abnormality of the lower limb	54888	NSUN2	OMIM:611091
HP:0002814	Abnormality of the lower limb	3920	LAMP2	OMIM:300257
HP:0002814	Abnormality of the lower limb	7518	XRCC4	OMIM:616541
HP:0002814	Abnormality of the lower limb	81545	FBXO38	OMIM:615575
HP:0002814	Abnormality of the lower limb	101929726	MYMX	OMIM:619941
HP:0002814	Abnormality of the lower limb	16	AARS1	OMIM:613287
HP:0002814	Abnormality of the lower limb	55753	OGDHL	OMIM:619701
HP:0002814	Abnormality of the lower limb	9570	GOSR2	OMIM:614018
HP:0002814	Abnormality of the lower limb	27247	NFU1	OMIM:620938
HP:0002814	Abnormality of the lower limb	3008	H1-4	OMIM:617537
HP:0002814	Abnormality of the lower limb	1131	CHRM3	ORPHA:2970
HP:0002814	Abnormality of the lower limb	1131	CHRM3	OMIM:100100
HP:0002814	Abnormality of the lower limb	4487	MSX1	ORPHA:199302
HP:0002814	Abnormality of the lower limb	56704	JPH1	OMIM:607831
HP:0002814	Abnormality of the lower limb	65267	WNK3	OMIM:309610
HP:0002814	Abnormality of the lower limb	64412	GZF1	OMIM:617662
HP:0002814	Abnormality of the lower limb	57231	SNX14	ORPHA:397709
HP:0002814	Abnormality of the lower limb	57231	SNX14	OMIM:616354
HP:0002814	Abnormality of the lower limb	129685	TAF8	OMIM:619972
HP:0002814	Abnormality of the lower limb	10606	PAICS	OMIM:619859
HP:0002814	Abnormality of the lower limb	57498	KIDINS220	OMIM:619501
HP:0002814	Abnormality of the lower limb	1123	CHN1	ORPHA:233
HP:0002814	Abnormality of the lower limb	92482	BBIP1	ORPHA:110
HP:0002814	Abnormality of the lower limb	49855	SCAPER	ORPHA:110
HP:0002814	Abnormality of the lower limb	4867	NPHP1	ORPHA:110
HP:0002814	Abnormality of the lower limb	132320	SCLT1	ORPHA:110
HP:0002814	Abnormality of the lower limb	84984	CEP19	ORPHA:110
HP:0002814	Abnormality of the lower limb	79738	BBS10	ORPHA:110
HP:0002814	Abnormality of the lower limb	123016	TTC8	ORPHA:110
HP:0002814	Abnormality of the lower limb	585	BBS4	ORPHA:110
HP:0002814	Abnormality of the lower limb	10806	SDCCAG8	ORPHA:110
HP:0002814	Abnormality of the lower limb	157657	CFAP418	ORPHA:110
HP:0002814	Abnormality of the lower limb	129880	BBS5	ORPHA:110
HP:0002814	Abnormality of the lower limb	7862	BRPF1	OMIM:617333
HP:0002814	Abnormality of the lower limb	286	ANK1	ORPHA:251066
HP:0002814	Abnormality of the lower limb	8898	MTMR2	OMIM:601382
HP:0002814	Abnormality of the lower limb	6901	TAFAZZIN	OMIM:302060
HP:0002814	Abnormality of the lower limb	4733	DRG1	OMIM:620641
HP:0002814	Abnormality of the lower limb	79053	ALG8	ORPHA:79325
HP:0002814	Abnormality of the lower limb	79053	ALG8	OMIM:608104
HP:0002814	Abnormality of the lower limb	10195	ALG3	OMIM:601110
HP:0002814	Abnormality of the lower limb	1917	EEF1A2	OMIM:616393
HP:0002814	Abnormality of the lower limb	58497	PRUNE1	OMIM:617481
HP:0002814	Abnormality of the lower limb	5910	RAP1GDS1	OMIM:620655
HP:0002814	Abnormality of the lower limb	389827	MYMK	OMIM:254940
HP:0002814	Abnormality of the lower limb	389827	MYMK	ORPHA:1358
HP:0002814	Abnormality of the lower limb	9488	PIGB	OMIM:618580
HP:0002814	Abnormality of the lower limb	160418	TMTC3	OMIM:617255
HP:0002814	Abnormality of the lower limb	1317	SLC31A1	OMIM:620306
HP:0002814	Abnormality of the lower limb	6091	ROBO1	OMIM:620305
HP:0002814	Abnormality of the lower limb	84320	ACBD6	OMIM:620785
HP:0002814	Abnormality of the lower limb	1491	CTH	ORPHA:212
HP:0002814	Abnormality of the lower limb	5980	REV3L	ORPHA:570
HP:0002814	Abnormality of the lower limb	23129	PLXND1	ORPHA:570
HP:0002814	Abnormality of the lower limb	2064	ERBB2	OMIM:619465
HP:0002814	Abnormality of the lower limb	246329	STAC3	ORPHA:168572
HP:0002814	Abnormality of the lower limb	113189	CHST14	OMIM:601776
HP:0002814	Abnormality of the lower limb	2571	GAD1	OMIM:619124
HP:0002814	Abnormality of the lower limb	57477	SHROOM4	ORPHA:85288
HP:0002814	Abnormality of the lower limb	50485	SMARCAL1	OMIM:242900
HP:0002814	Abnormality of the lower limb	80267	EDEM3	OMIM:619493
HP:0002814	Abnormality of the lower limb	26276	VPS33B	OMIM:620009
HP:0002814	Abnormality of the lower limb	60386	SLC25A19	OMIM:613710
HP:0002814	Abnormality of the lower limb	1968	EIF2S3	ORPHA:85282
HP:0002814	Abnormality of the lower limb	25793	FBXO7	OMIM:260300
HP:0002814	Abnormality of the lower limb	25793	FBXO7	ORPHA:171695
HP:0002814	Abnormality of the lower limb	81839	VANGL1	ORPHA:3027
HP:0002814	Abnormality of the lower limb	80199	FUZ	ORPHA:3027
HP:0002814	Abnormality of the lower limb	6812	STXBP1	ORPHA:495818
HP:0002814	Abnormality of the lower limb	55788	LMBRD1	OMIM:277380
HP:0002814	Abnormality of the lower limb	79753	SNIP1	OMIM:614501
HP:0002814	Abnormality of the lower limb	55670	PEX26	OMIM:614872
HP:0002814	Abnormality of the lower limb	6622	SNCA	ORPHA:171695
HP:0002814	Abnormality of the lower limb	667	DST	OMIM:614653
HP:0002814	Abnormality of the lower limb	2891	GRIA2	OMIM:618917
HP:0002814	Abnormality of the lower limb	5530	PPP3CA	OMIM:617711
HP:0002814	Abnormality of the lower limb	57211	ADGRG6	OMIM:616503
HP:0002814	Abnormality of the lower limb	29940	DSE	OMIM:615539
HP:0002814	Abnormality of the lower limb	79576	NKAP	OMIM:301039
HP:0002814	Abnormality of the lower limb	9419	CRIPT	OMIM:615789
HP:0002814	Abnormality of the lower limb	29980	DONSON	OMIM:251230
HP:0002814	Abnormality of the lower limb	340075	ARSI	ORPHA:401815
HP:0002814	Abnormality of the lower limb	953	ENTPD1	OMIM:615683
HP:0002814	Abnormality of the lower limb	54676	GTPBP2	OMIM:617988
HP:0002814	Abnormality of the lower limb	55191	NADSYN1	OMIM:618845
HP:0002814	Abnormality of the lower limb	1807	DPYS	OMIM:222748
HP:0002814	Abnormality of the lower limb	64374	SIL1	OMIM:248800
HP:0002814	Abnormality of the lower limb	8367	H4C5	OMIM:619950
HP:0002814	Abnormality of the lower limb	83932	SPRTN	OMIM:616200
HP:0002814	Abnormality of the lower limb	392255	GDF6	OMIM:617898
HP:0002814	Abnormality of the lower limb	4010	LMX1B	ORPHA:2614
HP:0002814	Abnormality of the lower limb	4010	LMX1B	OMIM:161200
HP:0002814	Abnormality of the lower limb	51126	NAA20	OMIM:619717
HP:0002814	Abnormality of the lower limb	2972	BRF1	OMIM:616202
HP:0002814	Abnormality of the lower limb	2904	GRIN2B	OMIM:613970
HP:0002814	Abnormality of the lower limb	775	CACNA1C	OMIM:620029
HP:0002814	Abnormality of the lower limb	1299	COL9A3	OMIM:620022
HP:0002814	Abnormality of the lower limb	3190	HNRNPK	ORPHA:453504
HP:0002814	Abnormality of the lower limb	3190	HNRNPK	ORPHA:352665
HP:0002814	Abnormality of the lower limb	116931	MED12L	OMIM:618872
HP:0002814	Abnormality of the lower limb	9578	CDC42BPB	OMIM:619841
HP:0002814	Abnormality of the lower limb	1278	COL1A2	ORPHA:230851
HP:0002814	Abnormality of the lower limb	1278	COL1A2	OMIM:617821
HP:0002814	Abnormality of the lower limb	1278	COL1A2	OMIM:225320
HP:0002814	Abnormality of the lower limb	613	BCR	ORPHA:261330
HP:0002814	Abnormality of the lower limb	1399	CRKL	ORPHA:261330
HP:0002814	Abnormality of the lower limb	80816	ASXL3	OMIM:615485
HP:0002814	Abnormality of the lower limb	80816	ASXL3	ORPHA:352577
HP:0002814	Abnormality of the lower limb	55790	CSGALNACT1	OMIM:618870
HP:0002814	Abnormality of the lower limb	55690	PACS1	OMIM:615009
HP:0002814	Abnormality of the lower limb	55690	PACS1	ORPHA:329224
HP:0002814	Abnormality of the lower limb	2314	FLII	ORPHA:819
HP:0002814	Abnormality of the lower limb	10522	DEAF1	ORPHA:819
HP:0002814	Abnormality of the lower limb	6662	SOX9	OMIM:114290
HP:0002814	Abnormality of the lower limb	25782	RAB3GAP2	OMIM:212720
HP:0002814	Abnormality of the lower limb	7175	TPR	OMIM:620393
HP:0002814	Abnormality of the lower limb	2673	GFPT1	ORPHA:353327
HP:0002814	Abnormality of the lower limb	1798	DPAGT1	ORPHA:353327
HP:0002814	Abnormality of the lower limb	85365	ALG2	ORPHA:353327
HP:0002814	Abnormality of the lower limb	85365	ALG2	OMIM:616228
HP:0002814	Abnormality of the lower limb	199857	ALG14	ORPHA:353327
HP:0002814	Abnormality of the lower limb	6595	SMARCA2	OMIM:619293
HP:0002814	Abnormality of the lower limb	6197	RPS6KA3	OMIM:303600
HP:0002814	Abnormality of the lower limb	6197	RPS6KA3	ORPHA:192
HP:0002814	Abnormality of the lower limb	84572	GNPTG	OMIM:252605
HP:0002814	Abnormality of the lower limb	54453	RIN2	OMIM:613075
HP:0002814	Abnormality of the lower limb	54453	RIN2	ORPHA:217335
HP:0002814	Abnormality of the lower limb	3899	AFF3	OMIM:619297
HP:0002814	Abnormality of the lower limb	80204	FBXO11	OMIM:618089
HP:0002814	Abnormality of the lower limb	9469	CHST3	OMIM:143095
HP:0002814	Abnormality of the lower limb	9469	CHST3	OMIM:245600
HP:0002814	Abnormality of the lower limb	23545	ATP6V0A2	ORPHA:2834
HP:0002814	Abnormality of the lower limb	23545	ATP6V0A2	OMIM:278250
HP:0002814	Abnormality of the lower limb	23545	ATP6V0A2	OMIM:219200
HP:0002814	Abnormality of the lower limb	9968	MED12	ORPHA:93932
HP:0002814	Abnormality of the lower limb	7436	VLDLR	OMIM:224050
HP:0002814	Abnormality of the lower limb	1801	DPH1	OMIM:616901
HP:0002814	Abnormality of the lower limb	1801	DPH1	ORPHA:459061
HP:0002814	Abnormality of the lower limb	1183	CLCN4	ORPHA:485350
HP:0002814	Abnormality of the lower limb	7840	ALMS1	OMIM:203800
HP:0002814	Abnormality of the lower limb	7840	ALMS1	ORPHA:64
HP:0002814	Abnormality of the lower limb	157680	VPS13B	OMIM:216550
HP:0002814	Abnormality of the lower limb	9839	ZEB2	ORPHA:261552
HP:0002814	Abnormality of the lower limb	9839	ZEB2	ORPHA:261537
HP:0002814	Abnormality of the lower limb	10484	SEC23A	OMIM:607812
HP:0002814	Abnormality of the lower limb	10484	SEC23A	ORPHA:50814
HP:0002814	Abnormality of the lower limb	1311	COMP	OMIM:132400
HP:0002814	Abnormality of the lower limb	6999	TDO2	OMIM:600627
HP:0002814	Abnormality of the lower limb	3340	NDST1	OMIM:616116
HP:0002814	Abnormality of the lower limb	79813	EHMT1	OMIM:610253
HP:0002814	Abnormality of the lower limb	200734	SPRED2	OMIM:619745
HP:0002814	Abnormality of the lower limb	124512	METTL23	OMIM:615942
HP:0002814	Abnormality of the lower limb	64132	XYLT2	ORPHA:85194
HP:0002814	Abnormality of the lower limb	64132	XYLT2	OMIM:605822
HP:0002814	Abnormality of the lower limb	11193	WBP4	OMIM:620852
HP:0002814	Abnormality of the lower limb	175	AGA	ORPHA:93
HP:0002814	Abnormality of the lower limb	26834	RNU4-2	OMIM:620851
HP:0002814	Abnormality of the lower limb	4247	MGAT2	OMIM:212066
HP:0002814	Abnormality of the lower limb	112755	STX1B	ORPHA:36387
HP:0002814	Abnormality of the lower limb	6326	SCN2A	ORPHA:36387
HP:0002814	Abnormality of the lower limb	6326	SCN2A	ORPHA:33069
HP:0002814	Abnormality of the lower limb	112476	PRRT2	ORPHA:36387
HP:0002814	Abnormality of the lower limb	6323	SCN1A	ORPHA:36387
HP:0002814	Abnormality of the lower limb	6323	SCN1A	ORPHA:33069
HP:0002814	Abnormality of the lower limb	6324	SCN1B	ORPHA:36387
HP:0002814	Abnormality of the lower limb	6324	SCN1B	ORPHA:33069
HP:0002814	Abnormality of the lower limb	348980	HCN1	ORPHA:36387
HP:0002814	Abnormality of the lower limb	2258	FGF13	ORPHA:36387
HP:0002814	Abnormality of the lower limb	84059	ADGRV1	ORPHA:36387
HP:0002814	Abnormality of the lower limb	2566	GABRG2	ORPHA:36387
HP:0002814	Abnormality of the lower limb	2566	GABRG2	ORPHA:33069
HP:0002814	Abnormality of the lower limb	11285	B4GALT7	OMIM:130070
HP:0002814	Abnormality of the lower limb	11285	B4GALT7	ORPHA:75496
HP:0002814	Abnormality of the lower limb	51114	ZDHHC9	OMIM:300799
HP:0002814	Abnormality of the lower limb	55621	TRMT1	OMIM:618302
HP:0002814	Abnormality of the lower limb	10717	AP4B1	OMIM:614066
HP:0002814	Abnormality of the lower limb	10717	AP4B1	ORPHA:280763
HP:0002814	Abnormality of the lower limb	55773	TBC1D23	OMIM:617695
HP:0002814	Abnormality of the lower limb	57680	CHD8	OMIM:615032
HP:0002814	Abnormality of the lower limb	8558	CDK10	OMIM:617694
HP:0002814	Abnormality of the lower limb	5593	PRKG2	OMIM:619638
HP:0002814	Abnormality of the lower limb	55699	IARS2	OMIM:616007
HP:0002814	Abnormality of the lower limb	8363	H4C11	OMIM:619759
HP:0002814	Abnormality of the lower limb	2332	FMR1	ORPHA:908
HP:0002814	Abnormality of the lower limb	2332	FMR1	ORPHA:449291
HP:0002814	Abnormality of the lower limb	2332	FMR1	OMIM:300624
HP:0002814	Abnormality of the lower limb	57863	CADM3	OMIM:619519
HP:0002814	Abnormality of the lower limb	6660	SOX5	OMIM:616803
HP:0002814	Abnormality of the lower limb	6804	STX1A	ORPHA:904
HP:0002814	Abnormality of the lower limb	7461	CLIP2	ORPHA:904
HP:0002814	Abnormality of the lower limb	84277	DNAJC30	ORPHA:904
HP:0002814	Abnormality of the lower limb	8468	FKBP6	ORPHA:904
HP:0002814	Abnormality of the lower limb	5982	RFC2	ORPHA:904
HP:0002814	Abnormality of the lower limb	2969	GTF2I	ORPHA:904
HP:0002814	Abnormality of the lower limb	3984	LIMK1	ORPHA:904
HP:0002814	Abnormality of the lower limb	9569	GTF2IRD1	ORPHA:904
HP:0002814	Abnormality of the lower limb	155382	VPS37D	ORPHA:904
HP:0002814	Abnormality of the lower limb	155368	METTL27	ORPHA:904
HP:0002814	Abnormality of the lower limb	114049	BUD23	ORPHA:904
HP:0002814	Abnormality of the lower limb	7458	EIF4H	ORPHA:904
HP:0002814	Abnormality of the lower limb	84163	GTF2IRD2	ORPHA:904
HP:0002814	Abnormality of the lower limb	26608	TBL2	ORPHA:904
HP:0002814	Abnormality of the lower limb	653361	NCF1	ORPHA:904
HP:0002814	Abnormality of the lower limb	135886	TMEM270	ORPHA:904
HP:0002814	Abnormality of the lower limb	9031	BAZ1B	ORPHA:904
HP:0002814	Abnormality of the lower limb	2006	ELN	ORPHA:904
HP:0002814	Abnormality of the lower limb	2006	ELN	ORPHA:90348
HP:0002814	Abnormality of the lower limb	2006	ELN	ORPHA:91387
HP:0002814	Abnormality of the lower limb	54499	TMCO1	OMIM:213980
HP:0002814	Abnormality of the lower limb	23137	SMC5	OMIM:620185
HP:0002814	Abnormality of the lower limb	55027	HEATR3	OMIM:620072
HP:0002814	Abnormality of the lower limb	1303	COL12A1	ORPHA:536516
HP:0002814	Abnormality of the lower limb	51611	DPH5	OMIM:620070
HP:0002814	Abnormality of the lower limb	1742	DLG4	OMIM:618793
HP:0002814	Abnormality of the lower limb	4849	CNOT3	OMIM:618672
HP:0002814	Abnormality of the lower limb	200424	TET3	OMIM:618798
HP:0002814	Abnormality of the lower limb	2542	SLC37A4	OMIM:619525
HP:0002814	Abnormality of the lower limb	57466	SCAF4	OMIM:620511
HP:0002814	Abnormality of the lower limb	6925	TCF4	OMIM:610954
HP:0002814	Abnormality of the lower limb	6925	TCF4	ORPHA:2896
HP:0002814	Abnormality of the lower limb	124583	CANT1	OMIM:251450
HP:0002814	Abnormality of the lower limb	11107	PRDM5	ORPHA:90354
HP:0002814	Abnormality of the lower limb	84627	ZNF469	ORPHA:90354
HP:0002814	Abnormality of the lower limb	5373	PMM2	ORPHA:79318
HP:0002814	Abnormality of the lower limb	7030	TFE3	OMIM:301066
HP:0002814	Abnormality of the lower limb	8200	GDF5	OMIM:615298
HP:0002814	Abnormality of the lower limb	254065	BRWD3	OMIM:300659
HP:0002814	Abnormality of the lower limb	57479	PRR12	OMIM:619539
HP:0002814	Abnormality of the lower limb	4088	SMAD3	OMIM:613795
HP:0002814	Abnormality of the lower limb	4088	SMAD3	ORPHA:60030
HP:0002814	Abnormality of the lower limb	4088	SMAD3	ORPHA:284984
HP:0002814	Abnormality of the lower limb	4088	SMAD3	ORPHA:91387
HP:0002814	Abnormality of the lower limb	4087	SMAD2	OMIM:619656
HP:0002814	Abnormality of the lower limb	4087	SMAD2	ORPHA:60030
HP:0002814	Abnormality of the lower limb	4087	SMAD2	ORPHA:91387
HP:0002814	Abnormality of the lower limb	7048	TGFBR2	OMIM:610168
HP:0002814	Abnormality of the lower limb	7048	TGFBR2	ORPHA:60030
HP:0002814	Abnormality of the lower limb	7048	TGFBR2	ORPHA:91387
HP:0002814	Abnormality of the lower limb	9496	TBX4	OMIM:147891
HP:0002814	Abnormality of the lower limb	9496	TBX4	ORPHA:261279
HP:0002814	Abnormality of the lower limb	51322	WAC	ORPHA:466950
HP:0002814	Abnormality of the lower limb	2317	FLNB	OMIM:272460
HP:0002814	Abnormality of the lower limb	387733	IFITM5	OMIM:610967
HP:0002814	Abnormality of the lower limb	6567	SLC16A2	ORPHA:59
HP:0002814	Abnormality of the lower limb	6567	SLC16A2	OMIM:300523
HP:0002814	Abnormality of the lower limb	85300	ATCAY	OMIM:601238
HP:0002814	Abnormality of the lower limb	4883	NPR3	OMIM:619543
HP:0002814	Abnormality of the lower limb	54344	DPM3	ORPHA:263494
HP:0002814	Abnormality of the lower limb	91252	SLC39A13	OMIM:612350
HP:0002814	Abnormality of the lower limb	2703	GJA8	OMIM:612474
HP:0002814	Abnormality of the lower limb	2702	GJA5	OMIM:612474
HP:0002814	Abnormality of the lower limb	7046	TGFBR1	ORPHA:60030
HP:0002814	Abnormality of the lower limb	7046	TGFBR1	OMIM:609192
HP:0002814	Abnormality of the lower limb	7046	TGFBR1	ORPHA:91387
HP:0002814	Abnormality of the lower limb	10526	IPO8	ORPHA:60030
HP:0002814	Abnormality of the lower limb	10526	IPO8	OMIM:619472
HP:0002814	Abnormality of the lower limb	7042	TGFB2	ORPHA:60030
HP:0002814	Abnormality of the lower limb	7042	TGFB2	OMIM:614816
HP:0002814	Abnormality of the lower limb	7042	TGFB2	ORPHA:91387
HP:0002814	Abnormality of the lower limb	7043	TGFB3	ORPHA:60030
HP:0002814	Abnormality of the lower limb	7043	TGFB3	OMIM:615582
HP:0002814	Abnormality of the lower limb	7043	TGFB3	ORPHA:91387
HP:0002814	Abnormality of the lower limb	170302	ARX	OMIM:300419
HP:0002814	Abnormality of the lower limb	22907	DHX30	OMIM:617804
HP:0002814	Abnormality of the lower limb	7227	TRPS1	OMIM:190350
HP:0002814	Abnormality of the lower limb	11338	U2AF2	OMIM:620535
HP:0002814	Abnormality of the lower limb	2245	FGD1	ORPHA:915
HP:0002814	Abnormality of the lower limb	2245	FGD1	OMIM:305400
HP:0002814	Abnormality of the lower limb	1802	DPH2	ORPHA:459061
HP:0002814	Abnormality of the lower limb	3720	JARID2	OMIM:620098
HP:0002814	Abnormality of the lower limb	865	CBFB	OMIM:620099
HP:0002814	Abnormality of the lower limb	9949	AMMECR1	OMIM:300990
HP:0002814	Abnormality of the lower limb	22827	PUF60	ORPHA:508498
HP:0002814	Abnormality of the lower limb	22827	PUF60	ORPHA:508488
HP:0002814	Abnormality of the lower limb	8925	HERC1	OMIM:617011
HP:0002814	Abnormality of the lower limb	8925	HERC1	ORPHA:457359
HP:0002814	Abnormality of the lower limb	1075	CTSC	OMIM:245010
HP:0002814	Abnormality of the lower limb	5351	PLOD1	OMIM:225400
HP:0002814	Abnormality of the lower limb	5351	PLOD1	ORPHA:1900
HP:0002814	Abnormality of the lower limb	2290	FOXG1	OMIM:613454
HP:0002814	Abnormality of the lower limb	23394	ADNP	OMIM:615873
HP:0002814	Abnormality of the lower limb	10586	MAB21L2	OMIM:615877
HP:0002814	Abnormality of the lower limb	253738	EBF3	ORPHA:96148
HP:0002814	Abnormality of the lower limb	90459	ERI1	OMIM:620663
HP:0002814	Abnormality of the lower limb	57167	SALL4	OMIM:607323
HP:0002814	Abnormality of the lower limb	2202	EFEMP1	OMIM:620780
HP:0002814	Abnormality of the lower limb	55315	SLC29A3	OMIM:602782
HP:0002814	Abnormality of the lower limb	55315	SLC29A3	ORPHA:168569
HP:0002814	Abnormality of the lower limb	7707	ZNF148	OMIM:617260
HP:0002814	Abnormality of the lower limb	91179	SCARF2	OMIM:600920
HP:0002814	Abnormality of the lower limb	63895	PIEZO2	OMIM:617146
HP:0002814	Abnormality of the lower limb	2782	GNB1	OMIM:616973
HP:0002814	Abnormality of the lower limb	5831	PYCR1	OMIM:614438
HP:0002814	Abnormality of the lower limb	5831	PYCR1	OMIM:612940
HP:0002814	Abnormality of the lower limb	5831	PYCR1	ORPHA:2078
HP:0002814	Abnormality of the lower limb	3097	HIVEP2	OMIM:616977
HP:0002814	Abnormality of the lower limb	137682	NDUFAF6	OMIM:618239
HP:0002814	Abnormality of the lower limb	5010	CLDN11	OMIM:619328
HP:0002814	Abnormality of the lower limb	55033	FKBP14	OMIM:614557
HP:0002814	Abnormality of the lower limb	55033	FKBP14	ORPHA:300179
HP:0002814	Abnormality of the lower limb	6301	SARS1	OMIM:617709
HP:0002814	Abnormality of the lower limb	5190	PEX6	OMIM:616617
HP:0002814	Abnormality of the lower limb	4297	KMT2A	OMIM:605130
HP:0002814	Abnormality of the lower limb	54808	DYM	OMIM:223800
HP:0002814	Abnormality of the lower limb	84679	SLC9A7	OMIM:301024
HP:0002814	Abnormality of the lower limb	10735	STAG2	OMIM:301022
HP:0002814	Abnormality of the lower limb	57551	TAOK1	OMIM:619575
HP:0002814	Abnormality of the lower limb	51132	RLIM	OMIM:300978
HP:0002814	Abnormality of the lower limb	84068	SLC10A7	OMIM:618363
HP:0002814	Abnormality of the lower limb	64131	XYLT1	OMIM:615777
HP:0002814	Abnormality of the lower limb	64131	XYLT1	ORPHA:370930
HP:0002814	Abnormality of the lower limb	9820	CUL7	OMIM:273750
HP:0002814	Abnormality of the lower limb	444	ASPH	OMIM:601552
HP:0002814	Abnormality of the lower limb	191	AHCY	ORPHA:88618
HP:0002814	Abnormality of the lower limb	633	BGN	OMIM:300989
HP:0002814	Abnormality of the lower limb	164	AP1G1	OMIM:619467
HP:0002814	Abnormality of the lower limb	2906	GRIN2D	OMIM:617162
HP:0002814	Abnormality of the lower limb	3188	HNRNPH2	OMIM:300986
HP:0002814	Abnormality of the lower limb	25	ABL1	OMIM:617602
HP:0002814	Abnormality of the lower limb	5144	PDE4D	ORPHA:439822
HP:0002814	Abnormality of the lower limb	545	ATR	OMIM:210600
HP:0002814	Abnormality of the lower limb	2475	MTOR	ORPHA:457485
HP:0002814	Abnormality of the lower limb	23152	CIC	OMIM:617600
HP:0002814	Abnormality of the lower limb	9244	CRLF1	OMIM:272430
HP:0002814	Abnormality of the lower limb	4548	MTR	OMIM:250940
HP:0002814	Abnormality of the lower limb	2313	FLI1	ORPHA:2308
HP:0002814	Abnormality of the lower limb	6874	TAF4	OMIM:620450
HP:0002814	Abnormality of the lower limb	79718	TBL1XR1	ORPHA:487825
HP:0002814	Abnormality of the lower limb	8812	CCNK	OMIM:618147
HP:0002814	Abnormality of the lower limb	2892	GRIA3	ORPHA:364028
HP:0002814	Abnormality of the lower limb	2033	EP300	OMIM:180849
HP:0002814	Abnormality of the lower limb	1387	CREBBP	OMIM:180849
HP:0002814	Abnormality of the lower limb	10283	CWC27	OMIM:250410
HP:0002814	Abnormality of the lower limb	10283	CWC27	ORPHA:166035
HP:0002814	Abnormality of the lower limb	80036	TRPM3	OMIM:620224
HP:0002814	Abnormality of the lower limb	2554	GABRA1	ORPHA:33069
HP:0002814	Abnormality of the lower limb	57526	PCDH19	ORPHA:33069
HP:0002814	Abnormality of the lower limb	7040	TGFB1	ORPHA:1328
HP:0002814	Abnormality of the lower limb	8936	WASF1	OMIM:618707
HP:0002814	Abnormality of the lower limb	4841	NONO	OMIM:300967
HP:0002814	Abnormality of the lower limb	4841	NONO	ORPHA:466791
HP:0002814	Abnormality of the lower limb	7204	TRIO	ORPHA:476126
HP:0002814	Abnormality of the lower limb	23233	EXOC6B	OMIM:618395
HP:0002814	Abnormality of the lower limb	10220	GDF11	OMIM:619122
HP:0002814	Abnormality of the lower limb	22995	CEP152	OMIM:613823
HP:0002814	Abnormality of the lower limb	113246	C12orf57	OMIM:218340
HP:0002814	Abnormality of the lower limb	126792	B3GALT6	OMIM:271640
HP:0002814	Abnormality of the lower limb	9179	AP4M1	ORPHA:280763
HP:0002814	Abnormality of the lower limb	11154	AP4S1	ORPHA:280763
HP:0002814	Abnormality of the lower limb	23431	AP4E1	ORPHA:280763
HP:0002814	Abnormality of the lower limb	11014	KDELR2	OMIM:619131
HP:0002814	Abnormality of the lower limb	1315	COPB1	OMIM:619255
HP:0002814	Abnormality of the lower limb	1984	EIF5A	OMIM:619376
HP:0002814	Abnormality of the lower limb	2186	BPTF	OMIM:617755
HP:0002814	Abnormality of the lower limb	92344	GORAB	ORPHA:2078
HP:0002814	Abnormality of the lower limb	1073	CFL2	OMIM:610687
HP:0002814	Abnormality of the lower limb	5479	PPIB	OMIM:259440
HP:0002814	Abnormality of the lower limb	23133	PHF8	OMIM:300263
HP:0002814	Abnormality of the lower limb	11011	TLK2	OMIM:618050
HP:0002814	Abnormality of the lower limb	26229	B3GAT3	OMIM:245600
HP:0002814	Abnormality of the lower limb	139886	SPIN4	OMIM:301114
HP:0002814	Abnormality of the lower limb	8665	EIF3F	OMIM:618295
HP:0002814	Abnormality of the lower limb	83452	RAB33B	OMIM:615222
HP:0002814	Abnormality of the lower limb	1297	COL9A1	OMIM:614134
HP:0002814	Abnormality of the lower limb	529	ATP6V1E1	OMIM:617402
HP:0002814	Abnormality of the lower limb	4629	MYH11	ORPHA:91387
HP:0002814	Abnormality of the lower limb	4015	LOX	ORPHA:91387
HP:0002814	Abnormality of the lower limb	4089	SMAD4	ORPHA:91387
HP:0002814	Abnormality of the lower limb	59	ACTA2	ORPHA:91387
HP:0002814	Abnormality of the lower limb	5592	PRKG1	ORPHA:91387
HP:0002814	Abnormality of the lower limb	2301	FOXE3	ORPHA:91387
HP:0002814	Abnormality of the lower limb	4144	MAT2A	ORPHA:91387
HP:0002814	Abnormality of the lower limb	23493	HEY2	ORPHA:91387
HP:0002814	Abnormality of the lower limb	8076	MFAP5	ORPHA:91387
HP:0002814	Abnormality of the lower limb	4638	MYLK	ORPHA:91387
HP:0002814	Abnormality of the lower limb	79875	THSD4	ORPHA:91387
HP:0002814	Abnormality of the lower limb	9898	UBAP2L	OMIM:620494
HP:0002814	Abnormality of the lower limb	90952	ESAM	OMIM:620371
HP:0002814	Abnormality of the lower limb	168667	BMPER	OMIM:608022
HP:0002814	Abnormality of the lower limb	2239	GPC4	ORPHA:373
HP:0002814	Abnormality of the lower limb	2239	GPC4	OMIM:312870
HP:0002814	Abnormality of the lower limb	2719	GPC3	ORPHA:373
HP:0002814	Abnormality of the lower limb	2719	GPC3	OMIM:312870
HP:0002814	Abnormality of the lower limb	6134	RPL10	OMIM:300998
HP:0002814	Abnormality of the lower limb	23126	POGZ	OMIM:616364
HP:0002814	Abnormality of the lower limb	5648	MASP1	OMIM:257920
HP:0002814	Abnormality of the lower limb	9231	DLG5	OMIM:620703
HP:0002814	Abnormality of the lower limb	84100	ARL6	OMIM:209900
HP:0002814	Abnormality of the lower limb	79140	CCDC28B	OMIM:209900
HP:0002814	Abnormality of the lower limb	582	BBS1	OMIM:209900
HP:0002814	Abnormality of the lower limb	84295	PHF6	ORPHA:127
HP:0002814	Abnormality of the lower limb	83550	GPR101	ORPHA:963
HP:0002814	Abnormality of the lower limb	9049	AIP	ORPHA:963
HP:0002814	Abnormality of the lower limb	64327	LMBR1	OMIM:135750
HP:0002814	Abnormality of the lower limb	10943	MSL3	OMIM:301032
HP:0002814	Abnormality of the lower limb	1836	SLC26A2	ORPHA:93307
HP:0002814	Abnormality of the lower limb	341640	FREM2	ORPHA:2052
HP:0002814	Abnormality of the lower limb	80144	FRAS1	ORPHA:2052
HP:0002814	Abnormality of the lower limb	23426	GRIP1	ORPHA:2052
HP:0002814	Abnormality of the lower limb	6309	SC5D	ORPHA:46059
HP:0002814	Abnormality of the lower limb	9759	HDAC4	ORPHA:1001
HP:0002814	Abnormality of the lower limb	117581	TWIST2	OMIM:200110
HP:0002814	Abnormality of the lower limb	117581	TWIST2	ORPHA:920
HP:0002814	Abnormality of the lower limb	374654	KIF7	OMIM:200990
HP:0002814	Abnormality of the lower limb	3020	H3-3A	OMIM:619720
HP:0002814	Abnormality of the lower limb	9790	BMS1	ORPHA:1114
HP:0002814	Abnormality of the lower limb	3691	ITGB4	ORPHA:1114
HP:0002814	Abnormality of the lower limb	54101	RIPK4	ORPHA:1234
HP:0002814	Abnormality of the lower limb	5818	NECTIN1	ORPHA:3253
HP:0002814	Abnormality of the lower limb	10225	CD96	OMIM:211750
HP:0002814	Abnormality of the lower limb	10225	CD96	ORPHA:1308
HP:0002814	Abnormality of the lower limb	4038	LRP4	ORPHA:3258
HP:0002814	Abnormality of the lower limb	324	APC	ORPHA:3258
HP:0002814	Abnormality of the lower limb	9126	SMC3	OMIM:610759
HP:0002814	Abnormality of the lower limb	9126	SMC3	ORPHA:199
HP:0002814	Abnormality of the lower limb	9698	PUM1	OMIM:620719
HP:0002814	Abnormality of the lower limb	7021	TFAP2B	ORPHA:46627
HP:0002814	Abnormality of the lower limb	2019	EN1	OMIM:619218
HP:0002814	Abnormality of the lower limb	64359	NXN	ORPHA:1507
HP:0002814	Abnormality of the lower limb	4920	ROR2	ORPHA:1507
HP:0002814	Abnormality of the lower limb	3759	KCNJ2	OMIM:170390
HP:0002814	Abnormality of the lower limb	2697	GJA1	ORPHA:2710
HP:0002814	Abnormality of the lower limb	2697	GJA1	OMIM:186100
HP:0002814	Abnormality of the lower limb	652	BMP4	OMIM:607932
HP:0002814	Abnormality of the lower limb	7291	TWIST1	OMIM:101400
HP:0002814	Abnormality of the lower limb	3239	HOXD13	ORPHA:93409
HP:0002814	Abnormality of the lower limb	2192	FBLN1	OMIM:608180
HP:0002814	Abnormality of the lower limb	51715	RAB23	ORPHA:65759
HP:0002814	Abnormality of the lower limb	51715	RAB23	OMIM:201000
HP:0002814	Abnormality of the lower limb	1954	MEGF8	ORPHA:65759
HP:0002814	Abnormality of the lower limb	10716	TBR1	ORPHA:1617
HP:0002814	Abnormality of the lower limb	26227	PHGDH	OMIM:256520
HP:0002814	Abnormality of the lower limb	23476	BRD4	ORPHA:199
HP:0002814	Abnormality of the lower limb	8243	SMC1A	ORPHA:199
HP:0002814	Abnormality of the lower limb	6878	TAF6	ORPHA:199
HP:0002814	Abnormality of the lower limb	25836	NIPBL	ORPHA:199
HP:0002814	Abnormality of the lower limb	25836	NIPBL	OMIM:122470
HP:0002814	Abnormality of the lower limb	5885	RAD21	ORPHA:199
HP:0002814	Abnormality of the lower limb	9851	KIAA0753	ORPHA:474
HP:0002814	Abnormality of the lower limb	55112	DYNC2I1	ORPHA:474
HP:0002814	Abnormality of the lower limb	26160	IFT172	ORPHA:474
HP:0002814	Abnormality of the lower limb	153241	CEP120	ORPHA:474
HP:0002814	Abnormality of the lower limb	57560	IFT80	ORPHA:474
HP:0002814	Abnormality of the lower limb	51626	DYNC2LI1	ORPHA:474
HP:0002814	Abnormality of the lower limb	79659	DYNC2H1	ORPHA:474
HP:0002814	Abnormality of the lower limb	9742	IFT140	ORPHA:474
HP:0002814	Abnormality of the lower limb	89891	DYNC2I2	ORPHA:474
HP:0002814	Abnormality of the lower limb	79809	TTC21B	ORPHA:474
HP:0002814	Abnormality of the lower limb	3981	LIG4	ORPHA:235
HP:0002814	Abnormality of the lower limb	1947	EFNB1	OMIM:304110
HP:0002814	Abnormality of the lower limb	4613	MYCN	ORPHA:391641
HP:0002814	Abnormality of the lower limb	4613	MYCN	OMIM:620748
HP:0002814	Abnormality of the lower limb	84265	POLR3GL	OMIM:619234
HP:0002814	Abnormality of the lower limb	65250	CPLANE1	OMIM:277170
HP:0002814	Abnormality of the lower limb	92002	CCNQ	OMIM:300707
HP:0002814	Abnormality of the lower limb	92002	CCNQ	ORPHA:140952
HP:0002814	Abnormality of the lower limb	79005	SCNM1	OMIM:620107
HP:0002814	Abnormality of the lower limb	6608	SMO	OMIM:241800
HP:0002814	Abnormality of the lower limb	6608	SMO	ORPHA:1553
HP:0002814	Abnormality of the lower limb	84992	PIGY	OMIM:616809
HP:0002814	Abnormality of the lower limb	51633	OTUD6B	ORPHA:505237
HP:0002814	Abnormality of the lower limb	374879	ZNF699	OMIM:619488
HP:0002814	Abnormality of the lower limb	28957	MRPS28	OMIM:618958
HP:0002814	Abnormality of the lower limb	2255	FGF10	ORPHA:2363
HP:0002814	Abnormality of the lower limb	79971	WLS	OMIM:619648
HP:0002814	Abnormality of the lower limb	407975	MIR17HG	ORPHA:391646
HP:0002814	Abnormality of the lower limb	4208	MEF2C	ORPHA:228384
HP:0002814	Abnormality of the lower limb	3664	IRF6	ORPHA:1300
HP:0002814	Abnormality of the lower limb	50945	TBX22	ORPHA:921
HP:0002814	Abnormality of the lower limb	9896	FIG4	OMIM:216340
HP:0002814	Abnormality of the lower limb	29968	PSAT1	OMIM:616038
HP:0002814	Abnormality of the lower limb	26123	TCTN3	OMIM:258860
HP:0002814	Abnormality of the lower limb	55906	ZC4H2	OMIM:301041
HP:0002814	Abnormality of the lower limb	23516	SLC39A14	OMIM:617013
HP:0002814	Abnormality of the lower limb	170689	ADAMTS15	OMIM:620545
HP:0002814	Abnormality of the lower limb	10060	ABCC9	OMIM:619719
HP:0002814	Abnormality of the lower limb	113179	ADAT3	ORPHA:363528
HP:0002814	Abnormality of the lower limb	51506	UFC1	OMIM:618076
HP:0002814	Abnormality of the lower limb	55768	NGLY1	ORPHA:404454
HP:0002814	Abnormality of the lower limb	84466	MEGF10	OMIM:620249
HP:0002814	Abnormality of the lower limb	4141	MARS1	OMIM:620323
HP:0002814	Abnormality of the lower limb	291	SLC25A4	OMIM:615418
HP:0002814	Abnormality of the lower limb	4556	MT-TE	ORPHA:2596
HP:0002814	Abnormality of the lower limb	7920	ABHD16A	OMIM:619735
HP:0002814	Abnormality of the lower limb	26235	FBXL4	OMIM:615471
HP:0002814	Abnormality of the lower limb	124997	WDR81	OMIM:610185
HP:0002814	Abnormality of the lower limb	100033413	SNORD116-1	OMIM:176270
HP:0002814	Abnormality of the lower limb	23742	NPAP1	OMIM:176270
HP:0002814	Abnormality of the lower limb	338433	SNORD115-1	OMIM:176270
HP:0002814	Abnormality of the lower limb	7681	MKRN3	OMIM:176270
HP:0002814	Abnormality of the lower limb	145624	PWAR1	OMIM:176270
HP:0002814	Abnormality of the lower limb	3653	IPW	OMIM:176270
HP:0002814	Abnormality of the lower limb	791114	PWRN1	OMIM:176270
HP:0002814	Abnormality of the lower limb	9401	RECQL4	OMIM:268400
HP:0002814	Abnormality of the lower limb	22854	NTNG1	ORPHA:3095
HP:0002814	Abnormality of the lower limb	9568	GABBR2	ORPHA:3095
HP:0002814	Abnormality of the lower limb	9568	GABBR2	OMIM:617903
HP:0002814	Abnormality of the lower limb	57539	WDR35	ORPHA:93271
HP:0002814	Abnormality of the lower limb	6651	SON	OMIM:617140
HP:0002814	Abnormality of the lower limb	23030	KDM4B	OMIM:619320
HP:0002814	Abnormality of the lower limb	6905	TBCE	ORPHA:2323
HP:0002814	Abnormality of the lower limb	6905	TBCE	OMIM:241410
HP:0002814	Abnormality of the lower limb	6905	TBCE	OMIM:244460
HP:0002814	Abnormality of the lower limb	6905	TBCE	ORPHA:93324
HP:0002814	Abnormality of the lower limb	9382	COG1	OMIM:611209
HP:0002814	Abnormality of the lower limb	818	CAMK2G	OMIM:618522
HP:0002814	Abnormality of the lower limb	3064	HTT	OMIM:617435
HP:0002814	Abnormality of the lower limb	6045	RNF2	OMIM:619460
HP:0002814	Abnormality of the lower limb	10087	CERT1	OMIM:616351
HP:0002814	Abnormality of the lower limb	1301	COL11A1	OMIM:228520
HP:0002814	Abnormality of the lower limb	6023	RMRP	OMIM:607095
HP:0002814	Abnormality of the lower limb	7874	USP7	ORPHA:500055
HP:0002814	Abnormality of the lower limb	8493	PPM1D	OMIM:617450
HP:0002814	Abnormality of the lower limb	57003	CCDC47	OMIM:618268
HP:0002814	Abnormality of the lower limb	9894	TELO2	ORPHA:488642
HP:0002814	Abnormality of the lower limb	8364	H4C3	OMIM:619758
HP:0002814	Abnormality of the lower limb	9719	ADAMTSL2	OMIM:231050
HP:0002814	Abnormality of the lower limb	55343	SLC35C1	OMIM:266265
HP:0002814	Abnormality of the lower limb	3636	INPPL1	OMIM:258480
HP:0002814	Abnormality of the lower limb	3800	KIF5C	OMIM:615282
HP:0002814	Abnormality of the lower limb	54928	BPNT2	OMIM:614078
HP:0002814	Abnormality of the lower limb	8242	KDM5C	OMIM:300534
HP:0002814	Abnormality of the lower limb	9130	FAM50A	OMIM:300261
HP:0002814	Abnormality of the lower limb	8295	TRRAP	OMIM:618454
HP:0002814	Abnormality of the lower limb	25886	POC1A	OMIM:614813
HP:0002814	Abnormality of the lower limb	78987	CRELD1	OMIM:620771
HP:0002814	Abnormality of the lower limb	3762	KCNJ5	ORPHA:37553
HP:0002814	Abnormality of the lower limb	84181	CHD6	ORPHA:2108
HP:0002814	Abnormality of the lower limb	1281	COL3A1	ORPHA:2500
HP:0002814	Abnormality of the lower limb	10075	HUWE1	OMIM:309590
HP:0002814	Abnormality of the lower limb	2036	EPB41L1	OMIM:614257
HP:0002814	Abnormality of the lower limb	84879	MFSD2A	OMIM:616486
HP:0002814	Abnormality of the lower limb	23040	MYT1L	OMIM:616521
HP:0002814	Abnormality of the lower limb	10730	YME1L1	OMIM:617302
HP:0002814	Abnormality of the lower limb	342035	GLDN	OMIM:617194
HP:0002814	Abnormality of the lower limb	1496	CTNNA2	OMIM:618174
HP:0002814	Abnormality of the lower limb	8985	PLOD3	OMIM:612394
HP:0002814	Abnormality of the lower limb	6811	STX5	OMIM:620454
HP:0002814	Abnormality of the lower limb	25942	SIN3A	ORPHA:94065
HP:0002814	Abnormality of the lower limb	4893	NRAS	OMIM:163200
HP:0002814	Abnormality of the lower limb	3265	HRAS	OMIM:163200
HP:0002814	Abnormality of the lower limb	157570	ESCO2	OMIM:216100
HP:0002814	Abnormality of the lower limb	4882	NPR2	OMIM:602875
HP:0002814	Abnormality of the lower limb	81794	ADAMTS10	OMIM:277600
HP:0002814	Abnormality of the lower limb	132	ADK	OMIM:614300
HP:0002814	Abnormality of the lower limb	6938	TCF12	OMIM:615314
HP:0002814	Abnormality of the lower limb	57122	NUP107	OMIM:618348
HP:0002814	Abnormality of the lower limb	2077	ERF	OMIM:617180
HP:0002814	Abnormality of the lower limb	56098	PCDHGC4	OMIM:619880
HP:0002814	Abnormality of the lower limb	83737	ITCH	OMIM:613385
HP:0002814	Abnormality of the lower limb	51085	MLXIPL	OMIM:194050
HP:0002814	Abnormality of the lower limb	5147	PDE6D	ORPHA:475
HP:0002814	Abnormality of the lower limb	5147	PDE6D	ORPHA:2754
HP:0002814	Abnormality of the lower limb	79600	TCTN1	ORPHA:475
HP:0002814	Abnormality of the lower limb	79848	CSPP1	ORPHA:475
HP:0002814	Abnormality of the lower limb	8481	OFD1	ORPHA:475
HP:0002814	Abnormality of the lower limb	8481	OFD1	ORPHA:2750
HP:0002814	Abnormality of the lower limb	8481	OFD1	ORPHA:2754
HP:0002814	Abnormality of the lower limb	51684	SUFU	ORPHA:475
HP:0002814	Abnormality of the lower limb	54806	AHI1	ORPHA:475
HP:0002814	Abnormality of the lower limb	54806	AHI1	ORPHA:220493
HP:0002814	Abnormality of the lower limb	91147	TMEM67	ORPHA:475
HP:0002814	Abnormality of the lower limb	200894	ARL13B	ORPHA:475
HP:0002814	Abnormality of the lower limb	9731	CEP104	ORPHA:475
HP:0002814	Abnormality of the lower limb	219844	HYLS1	ORPHA:475
HP:0002814	Abnormality of the lower limb	23247	KATNIP	ORPHA:475
HP:0002814	Abnormality of the lower limb	219854	TMEM218	ORPHA:475
HP:0002814	Abnormality of the lower limb	54903	MKS1	ORPHA:475
HP:0002814	Abnormality of the lower limb	54903	MKS1	OMIM:249000
HP:0002814	Abnormality of the lower limb	54903	MKS1	ORPHA:220493
HP:0002814	Abnormality of the lower limb	95681	CEP41	ORPHA:475
HP:0002814	Abnormality of the lower limb	95681	CEP41	ORPHA:220493
HP:0002814	Abnormality of the lower limb	9786	KIAA0586	ORPHA:475
HP:0002814	Abnormality of the lower limb	56623	INPP5E	ORPHA:475
HP:0002814	Abnormality of the lower limb	56623	INPP5E	ORPHA:220493
HP:0002814	Abnormality of the lower limb	79867	TCTN2	ORPHA:475
HP:0002814	Abnormality of the lower limb	80776	B9D2	ORPHA:475
HP:0002814	Abnormality of the lower limb	10464	PIBF1	ORPHA:475
HP:0002814	Abnormality of the lower limb	80210	ARMC9	ORPHA:475
HP:0002814	Abnormality of the lower limb	23116	TOGARAM1	ORPHA:475
HP:0002814	Abnormality of the lower limb	25776	CBY1	ORPHA:475
HP:0002814	Abnormality of the lower limb	27077	B9D1	ORPHA:475
HP:0002814	Abnormality of the lower limb	403	ARL3	ORPHA:475
HP:0002814	Abnormality of the lower limb	80173	IFT74	ORPHA:475
HP:0002814	Abnormality of the lower limb	65062	TMEM237	ORPHA:475
HP:0002814	Abnormality of the lower limb	65062	TMEM237	ORPHA:2318
HP:0002814	Abnormality of the lower limb	1312	COMT	ORPHA:567
HP:0002814	Abnormality of the lower limb	221037	JMJD1C	ORPHA:567
HP:0002814	Abnormality of the lower limb	2812	GP1BB	ORPHA:567
HP:0002814	Abnormality of the lower limb	6239	RREB1	ORPHA:567
HP:0002814	Abnormality of the lower limb	6899	TBX1	ORPHA:567
HP:0002814	Abnormality of the lower limb	7290	HIRA	ORPHA:567
HP:0002814	Abnormality of the lower limb	9632	SEC24C	ORPHA:567
HP:0002814	Abnormality of the lower limb	7353	UFD1	ORPHA:567
HP:0002814	Abnormality of the lower limb	421	ARVCF	ORPHA:567
HP:0002814	Abnormality of the lower limb	79583	TMEM231	ORPHA:2318
HP:0002814	Abnormality of the lower limb	79583	TMEM231	ORPHA:2754
HP:0002814	Abnormality of the lower limb	51524	TMEM138	ORPHA:2318
HP:0002814	Abnormality of the lower limb	23090	ZNF423	ORPHA:2318
HP:0002814	Abnormality of the lower limb	80184	CEP290	ORPHA:2318
HP:0002814	Abnormality of the lower limb	57545	CC2D2A	ORPHA:2318
HP:0002814	Abnormality of the lower limb	10210	TOPORS	ORPHA:2754
HP:0002814	Abnormality of the lower limb	317662	FAM149B1	ORPHA:2754
HP:0002814	Abnormality of the lower limb	5566	PRKACA	ORPHA:289
HP:0002814	Abnormality of the lower limb	5567	PRKACB	ORPHA:289
HP:0002814	Abnormality of the lower limb	2735	GLI1	ORPHA:289
HP:0002814	Abnormality of the lower limb	2121	EVC	ORPHA:289
HP:0002814	Abnormality of the lower limb	132884	EVC2	ORPHA:289
HP:0002814	Abnormality of the lower limb	220296	HEPACAM	ORPHA:210548
HP:0002814	Abnormality of the lower limb	26154	ABCA12	ORPHA:457
HP:0002814	Abnormality of the lower limb	26005	C2CD3	ORPHA:434179
HP:0002814	Abnormality of the lower limb	11020	IFT27	OMIM:615996
HP:0002814	Abnormality of the lower limb	54585	LZTFL1	OMIM:615994
HP:0002814	Abnormality of the lower limb	55593	OTUD5	OMIM:301056
HP:0002814	Abnormality of the lower limb	4149	MAX	OMIM:620712
HP:0002814	Abnormality of the lower limb	4750	NEK1	OMIM:252100
HP:0002814	Abnormality of the lower limb	83871	RAB34	OMIM:620718
HP:0002814	Abnormality of the lower limb	27031	NPHP3	OMIM:267010
HP:0002814	Abnormality of the lower limb	285600	KIAA0825	OMIM:618498
HP:0002814	Abnormality of the lower limb	23288	IQCE	OMIM:617642
HP:0002814	Abnormality of the lower limb	583	BBS2	OMIM:615981
HP:0002814	Abnormality of the lower limb	137392	CIBAR1	OMIM:618219
HP:0002814	Abnormality of the lower limb	7700	ZNF141	OMIM:615226
HP:0002814	Abnormality of the lower limb	166379	BBS12	OMIM:615989
HP:0002814	Abnormality of the lower limb	27241	BBS9	OMIM:615986
HP:0002814	Abnormality of the lower limb	255758	DYNLT2B	OMIM:617405
HP:0002814	Abnormality of the lower limb	59344	ALOXE3	OMIM:242100
HP:0002814	Abnormality of the lower limb	242	ALOX12B	OMIM:242100
HP:0002814	Abnormality of the lower limb	5896	RAG1	ORPHA:39041
HP:0002814	Abnormality of the lower limb	5897	RAG2	ORPHA:39041
HP:0002814	Abnormality of the lower limb	64421	DCLRE1C	ORPHA:39041
HP:0002814	Abnormality of the lower limb	100	ADA	ORPHA:39041
HP:0002814	Abnormality of the lower limb	3575	IL7R	ORPHA:39041
HP:0002814	Abnormality of the lower limb	3561	IL2RG	ORPHA:39041
HP:0002814	Abnormality of the lower limb	23384	SPECC1L	ORPHA:1519
HP:0002814	Abnormality of the lower limb	55650	PIGV	OMIM:239300
HP:0002814	Abnormality of the lower limb	3039	HBA1	ORPHA:98791
HP:0002814	Abnormality of the lower limb	3040	HBA2	ORPHA:98791
HP:0002814	Abnormality of the lower limb	375056	MIA3	OMIM:619269
HP:0002814	Abnormality of the lower limb	2690	GHR	ORPHA:633
HP:0002814	Abnormality of the lower limb	3835	KIF22	ORPHA:93360
HP:0002814	Abnormality of the lower limb	6775	STAT4	ORPHA:85408
HP:0002814	Abnormality of the lower limb	3560	IL2RB	ORPHA:85408
HP:0002814	Abnormality of the lower limb	79722	ANKRD55	ORPHA:85408
HP:0002814	Abnormality of the lower limb	26191	PTPN22	ORPHA:85408
HP:0002814	Abnormality of the lower limb	919	CD247	ORPHA:85408
HP:0002814	Abnormality of the lower limb	3559	IL2RA	ORPHA:85408
HP:0002814	Abnormality of the lower limb	5771	PTPN2	ORPHA:85408
HP:0002814	Abnormality of the lower limb	6473	SHOX	OMIM:127300
HP:0002814	Abnormality of the lower limb	65109	UPF3B	OMIM:300676
HP:0002814	Abnormality of the lower limb	440	ASNS	OMIM:615574
HP:0002814	Abnormality of the lower limb	3643	INSR	OMIM:246200
HP:0002814	Abnormality of the lower limb	3643	INSR	ORPHA:508
HP:0002814	Abnormality of the lower limb	100151683	RNU4ATAC	OMIM:210710
HP:0002814	Abnormality of the lower limb	9487	PIGL	OMIM:280000
HP:0002814	Abnormality of the lower limb	11128	POLR3A	OMIM:264090
HP:0002814	Abnormality of the lower limb	5468	PPARG	ORPHA:528
HP:0002814	Abnormality of the lower limb	10555	AGPAT2	ORPHA:528
HP:0002814	Abnormality of the lower limb	10555	AGPAT2	OMIM:608594
HP:0002814	Abnormality of the lower limb	284119	CAVIN1	ORPHA:528
HP:0002814	Abnormality of the lower limb	2353	FOS	ORPHA:528
HP:0002814	Abnormality of the lower limb	857	CAV1	ORPHA:528
HP:0002814	Abnormality of the lower limb	8726	EED	OMIM:617561
HP:0002814	Abnormality of the lower limb	5159	PDGFRB	OMIM:616592
HP:0002814	Abnormality of the lower limb	6492	SIM1	ORPHA:171829
HP:0002814	Abnormality of the lower limb	51111	KMT5B	OMIM:617788
HP:0002814	Abnormality of the lower limb	29072	SETD2	OMIM:616831
HP:0002814	Abnormality of the lower limb	89910	UBE3B	ORPHA:2707
HP:0002814	Abnormality of the lower limb	4221	MEN1	ORPHA:99725
HP:0002814	Abnormality of the lower limb	3728	JUP	ORPHA:158687
HP:0002814	Abnormality of the lower limb	7750	ZMYM2	OMIM:619522
HP:0002814	Abnormality of the lower limb	93627	TBCK	ORPHA:488632
HP:0002814	Abnormality of the lower limb	93627	TBCK	OMIM:616900
HP:0002814	Abnormality of the lower limb	55764	IFT122	OMIM:218330
HP:0002814	Abnormality of the lower limb	7474	WNT5A	OMIM:180700
HP:0002814	Abnormality of the lower limb	1855	DVL1	OMIM:180700
HP:0002814	Abnormality of the lower limb	23265	EXOC7	OMIM:619072
HP:0002814	Abnormality of the lower limb	54809	SAMD9	OMIM:617053
HP:0002814	Abnormality of the lower limb	6659	SOX4	OMIM:618506
HP:0002814	Abnormality of the lower limb	55627	SMPD4	OMIM:618622
HP:0002814	Abnormality of the lower limb	4927	NUP88	OMIM:618393
HP:0002814	Abnormality of the lower limb	4094	MAF	ORPHA:1272
HP:0002814	Abnormality of the lower limb	8314	BAP1	OMIM:619762
HP:0002814	Abnormality of the lower limb	10436	EMG1	ORPHA:1270
HP:0002814	Abnormality of the lower limb	10436	EMG1	OMIM:211180
HP:0002814	Abnormality of the lower limb	5649	RELN	ORPHA:89844
HP:0002814	Abnormality of the lower limb	10300	KATNB1	ORPHA:89844
HP:0002814	Abnormality of the lower limb	54820	NDE1	ORPHA:89844
HP:0002814	Abnormality of the lower limb	9928	KIF14	OMIM:616258
HP:0002814	Abnormality of the lower limb	8241	RBM10	ORPHA:2886
HP:0002814	Abnormality of the lower limb	8241	RBM10	OMIM:311900
HP:0002814	Abnormality of the lower limb	23511	NUP188	OMIM:618804
HP:0002814	Abnormality of the lower limb	91647	ATPAF2	OMIM:604273
HP:0002814	Abnormality of the lower limb	8626	TP63	OMIM:603543
HP:0002814	Abnormality of the lower limb	8626	TP63	OMIM:605289
HP:0002814	Abnormality of the lower limb	8626	TP63	OMIM:604292
HP:0002814	Abnormality of the lower limb	8626	TP63	ORPHA:1896
HP:0002814	Abnormality of the lower limb	8626	TP63	ORPHA:2440
HP:0002814	Abnormality of the lower limb	8626	TP63	ORPHA:978
HP:0002814	Abnormality of the lower limb	8626	TP63	OMIM:103285
HP:0002814	Abnormality of the lower limb	7480	WNT10B	OMIM:225300
HP:0002814	Abnormality of the lower limb	7480	WNT10B	ORPHA:2440
HP:0002814	Abnormality of the lower limb	10054	UBA2	OMIM:619959
HP:0002814	Abnormality of the lower limb	1749	DLX5	OMIM:220600
HP:0002814	Abnormality of the lower limb	1749	DLX5	ORPHA:2440
HP:0002814	Abnormality of the lower limb	1749	DLX5	OMIM:183600
HP:0002814	Abnormality of the lower limb	1750	DLX6	ORPHA:2440
HP:0002814	Abnormality of the lower limb	7979	SEM1	ORPHA:2440
HP:0002814	Abnormality of the lower limb	8945	BTRC	ORPHA:2440
HP:0002814	Abnormality of the lower limb	58513	EPS15L1	ORPHA:2440
HP:0002814	Abnormality of the lower limb	6468	FBXW4	ORPHA:2440
HP:0002814	Abnormality of the lower limb	2737	GLI3	ORPHA:93322
HP:0002814	Abnormality of the lower limb	7355	SLC35A2	ORPHA:356961
HP:0002814	Abnormality of the lower limb	2990	GUSB	ORPHA:584
HP:0002814	Abnormality of the lower limb	2990	GUSB	OMIM:253220
HP:0002814	Abnormality of the lower limb	1718	DHCR24	ORPHA:35107
HP:0002814	Abnormality of the lower limb	285590	SH3PXD2B	OMIM:249420
HP:0002814	Abnormality of the lower limb	5189	PEX1	OMIM:214100
HP:0002814	Abnormality of the lower limb	4626	MYH8	OMIM:158300
HP:0002814	Abnormality of the lower limb	259232	NALCN	OMIM:616266
HP:0002814	Abnormality of the lower limb	10381	TUBB3	ORPHA:300570
HP:0002814	Abnormality of the lower limb	7136	TNNI2	OMIM:601680
HP:0002814	Abnormality of the lower limb	1717	DHCR7	OMIM:270400
HP:0002814	Abnormality of the lower limb	84823	LMNB2	OMIM:619180
HP:0002814	Abnormality of the lower limb	55697	VAC14	ORPHA:3472
HP:0002814	Abnormality of the lower limb	7543	ZFX	OMIM:301118
HP:0002814	Abnormality of the lower limb	4233	MET	OMIM:620019
HP:0002814	Abnormality of the lower limb	53834	FGFRL1	OMIM:194190
HP:0002814	Abnormality of the lower limb	5307	PITX1	OMIM:119800
HP:0002814	Abnormality of the lower limb	90	ACVR1	ORPHA:337
HP:0002814	Abnormality of the lower limb	348180	CTU2	OMIM:618142
HP:0002814	Abnormality of the lower limb	998	CDC42	ORPHA:487796
HP:0002814	Abnormality of the lower limb	998	CDC42	OMIM:616737
HP:0002814	Abnormality of the lower limb	118987	PDZD8	OMIM:620021
HP:0002814	Abnormality of the lower limb	79228	THOC6	ORPHA:363444
HP:0002814	Abnormality of the lower limb	6647	SOD1	OMIM:618598
HP:0002814	Abnormality of the lower limb	22930	RAB3GAP1	OMIM:600118
HP:0002814	Abnormality of the lower limb	22930	RAB3GAP1	OMIM:619420
HP:0002814	Abnormality of the lower limb	54916	TMEM260	OMIM:617478
HP:0002814	Abnormality of the lower limb	129285	PPP1R21	OMIM:619383
HP:0002814	Abnormality of the lower limb	26100	WIPI2	OMIM:618453
HP:0002814	Abnormality of the lower limb	26173	INTS1	OMIM:618571
HP:0002814	Abnormality of the lower limb	1822	ATN1	OMIM:618494
HP:0002814	Abnormality of the lower limb	55656	INTS8	OMIM:618572
HP:0002814	Abnormality of the lower limb	84148	KAT8	OMIM:618974
HP:0002814	Abnormality of the lower limb	4654	MYOD1	OMIM:618975
HP:0002814	Abnormality of the lower limb	2770	GNAI1	OMIM:619854
HP:0002814	Abnormality of the lower limb	79759	ZNF668	OMIM:620194
HP:0002814	Abnormality of the lower limb	56975	FAM20C	OMIM:259775
HP:0002814	Abnormality of the lower limb	3236	HOXD10	OMIM:192950
HP:0002814	Abnormality of the lower limb	9427	ECEL1	OMIM:615065
HP:0002814	Abnormality of the lower limb	92949	ADAMTSL1	ORPHA:521445
HP:0002814	Abnormality of the lower limb	7528	YY1	ORPHA:506358
HP:0002814	Abnormality of the lower limb	7528	YY1	OMIM:617557
HP:0002814	Abnormality of the lower limb	8294	H4C9	OMIM:619951
HP:0002814	Abnormality of the lower limb	4683	NBN	OMIM:251260
HP:0002814	Abnormality of the lower limb	8924	HERC2	OMIM:615516
HP:0002814	Abnormality of the lower limb	6840	SVIL	OMIM:619040
HP:0002814	Abnormality of the lower limb	1349	COX7B	OMIM:300887
HP:0002814	Abnormality of the lower limb	23291	FBXW11	OMIM:618914
HP:0002814	Abnormality of the lower limb	83479	DDX59	OMIM:174300
HP:0002814	Abnormality of the lower limb	22858	CILK1	OMIM:612651
HP:0002814	Abnormality of the lower limb	28960	DCPS	OMIM:616459
HP:0002814	Abnormality of the lower limb	2590	GALNT2	OMIM:618885
HP:0002814	Abnormality of the lower limb	57492	ARID1B	OMIM:135900
HP:0002814	Abnormality of the lower limb	8260	NAA10	OMIM:300855
HP:0002814	Abnormality of the lower limb	8289	ARID1A	OMIM:614607
HP:0002814	Abnormality of the lower limb	79087	ALG12	OMIM:607143
HP:0002814	Abnormality of the lower limb	79087	ALG12	ORPHA:79324
HP:0002814	Abnormality of the lower limb	4212	MEIS2	OMIM:600987
HP:0002814	Abnormality of the lower limb	6304	SATB1	OMIM:619229
HP:0002814	Abnormality of the lower limb	64864	RFX7	OMIM:620330
HP:0002814	Abnormality of the lower limb	54880	BCOR	OMIM:300166
HP:0002814	Abnormality of the lower limb	10651	MTX2	OMIM:619127
HP:0002814	Abnormality of the lower limb	51098	IFT52	OMIM:617102
HP:0002814	Abnormality of the lower limb	6942	TCF20	OMIM:618430
HP:0002814	Abnormality of the lower limb	7140	TNNT3	OMIM:618435
HP:0002814	Abnormality of the lower limb	6605	SMARCE1	OMIM:616938
HP:0002814	Abnormality of the lower limb	50515	CHST11	OMIM:618167
HP:0002814	Abnormality of the lower limb	4123	MAN2C1	OMIM:619775
HP:0002814	Abnormality of the lower limb	9320	TRIP12	OMIM:617752
HP:0002814	Abnormality of the lower limb	6603	SMARCD2	OMIM:617475
HP:0002814	Abnormality of the lower limb	650	BMP2	OMIM:617877
HP:0002814	Abnormality of the lower limb	387	RHOA	OMIM:618727
HP:0002814	Abnormality of the lower limb	51594	NBAS	OMIM:614800
HP:0002814	Abnormality of the lower limb	1062	CENPE	ORPHA:808
HP:0002814	Abnormality of the lower limb	5116	PCNT	ORPHA:808
HP:0002814	Abnormality of the lower limb	5932	RBBP8	ORPHA:808
HP:0002814	Abnormality of the lower limb	79902	NUP85	ORPHA:808
HP:0002814	Abnormality of the lower limb	84126	ATRIP	ORPHA:808
HP:0002814	Abnormality of the lower limb	10293	TRAIP	ORPHA:808
HP:0002814	Abnormality of the lower limb	1763	DNA2	ORPHA:808
HP:0002814	Abnormality of the lower limb	10733	PLK4	ORPHA:808
HP:0002814	Abnormality of the lower limb	8813	DPM1	ORPHA:79322
HP:0002814	Abnormality of the lower limb	1302	COL11A2	ORPHA:1427
HP:0002814	Abnormality of the lower limb	1832	DSP	OMIM:609638
HP:0002814	Abnormality of the lower limb	112752	IFT43	OMIM:614099
HP:0002814	Abnormality of the lower limb	51053	GMNN	OMIM:616835
HP:0002814	Abnormality of the lower limb	55081	IFT57	OMIM:617927
HP:0002814	Abnormality of the lower limb	3480	IGF1R	OMIM:270450
HP:0002814	Abnormality of the lower limb	55012	PPP2R3C	OMIM:618419
HP:0002814	Abnormality of the lower limb	3251	HPRT1	OMIM:300322
HP:0002814	Abnormality of the lower limb	3251	HPRT1	OMIM:300323
HP:0002814	Abnormality of the lower limb	5281	PIGF	OMIM:619356
HP:0002814	Abnormality of the lower limb	490	ATP2B1	OMIM:619910
HP:0002814	Abnormality of the lower limb	5283	PIGH	OMIM:618010
HP:0002814	Abnormality of the lower limb	6049	RNF6	ORPHA:99977
HP:0002814	Abnormality of the lower limb	51741	WWOX	ORPHA:99977
HP:0002814	Abnormality of the lower limb	9940	DLEC1	ORPHA:99977
HP:0002814	Abnormality of the lower limb	171023	ASXL1	OMIM:605039
HP:0002814	Abnormality of the lower limb	5587	PRKD1	OMIM:617364
HP:0002814	Abnormality of the lower limb	3764	KCNJ8	ORPHA:1517
HP:0002814	Abnormality of the lower limb	285489	DOK7	OMIM:618389
HP:0002814	Abnormality of the lower limb	79770	TXNDC15	OMIM:619879
HP:0002814	Abnormality of the lower limb	79770	TXNDC15	ORPHA:564
HP:0002814	Abnormality of the lower limb	23498	HAAO	OMIM:617660
HP:0002814	Abnormality of the lower limb	55640	FLVCR2	OMIM:225790
HP:0002814	Abnormality of the lower limb	8942	KYNU	OMIM:617661
HP:0002814	Abnormality of the lower limb	54487	DGCR8	OMIM:192430
HP:0002814	Abnormality of the lower limb	8214	DGCR6	OMIM:192430
HP:0002814	Abnormality of the lower limb	8220	ESS2	OMIM:192430
HP:0002814	Abnormality of the lower limb	9993	DGCR2	OMIM:192430
HP:0002814	Abnormality of the lower limb	2068	ERCC2	ORPHA:1466
HP:0002814	Abnormality of the lower limb	2067	ERCC1	ORPHA:1466
HP:0002814	Abnormality of the lower limb	60681	FKBP10	ORPHA:1149
HP:0002814	Abnormality of the lower limb	84314	TMEM107	ORPHA:564
HP:0002814	Abnormality of the lower limb	57096	RPGRIP1	ORPHA:564
HP:0002814	Abnormality of the lower limb	23322	RPGRIP1L	ORPHA:564
HP:0002814	Abnormality of the lower limb	1760	DMPK	ORPHA:589821
HP:0002814	Abnormality of the lower limb	774	CACNA1B	OMIM:618497
HP:0002814	Abnormality of the lower limb	63894	VIPAS39	OMIM:613404
HP:0002814	Abnormality of the lower limb	55780	ERMARD	ORPHA:75857
HP:0002814	Abnormality of the lower limb	8398	PLA2G6	OMIM:610217
HP:0002814	Abnormality of the lower limb	1327	COX4I1	OMIM:619060
HP:0002814	Abnormality of the lower limb	87178	PNPT1	ORPHA:101111
HP:0002814	Abnormality of the lower limb	87178	PNPT1	OMIM:608703
HP:0002814	Abnormality of the lower limb	3315	HSPB1	OMIM:608634
HP:0002814	Abnormality of the lower limb	3315	HSPB1	OMIM:606595
HP:0002814	Abnormality of the lower limb	51	ACOX1	OMIM:618960
HP:0002814	Abnormality of the lower limb	4099	MAG	OMIM:616680
HP:0002814	Abnormality of the lower limb	8888	MCM3AP	OMIM:618124
HP:0002814	Abnormality of the lower limb	80207	OPA3	ORPHA:67036
HP:0002814	Abnormality of the lower limb	5631	PRPS1	OMIM:311070
HP:0002814	Abnormality of the lower limb	182	JAG1	OMIM:619574
HP:0002814	Abnormality of the lower limb	6709	SPTAN1	OMIM:620528
HP:0002814	Abnormality of the lower limb	50484	RRM2B	ORPHA:329336
HP:0002814	Abnormality of the lower limb	246243	RNASEH1	ORPHA:329336
HP:0002814	Abnormality of the lower limb	2733	GLE1	OMIM:611890
HP:0002814	Abnormality of the lower limb	1674	DES	ORPHA:98909
HP:0002814	Abnormality of the lower limb	6606	SMN1	OMIM:271150
HP:0002814	Abnormality of the lower limb	80208	SPG11	OMIM:616668
HP:0002814	Abnormality of the lower limb	8799	PEX11B	OMIM:614920
HP:0002814	Abnormality of the lower limb	1890	TYMP	OMIM:603041
HP:0002814	Abnormality of the lower limb	5428	POLG	OMIM:603041
HP:0002814	Abnormality of the lower limb	274	BIN1	ORPHA:169189
HP:0002814	Abnormality of the lower limb	64419	MTMR14	ORPHA:169189
HP:0002814	Abnormality of the lower limb	4618	MYF6	ORPHA:169189
HP:0002814	Abnormality of the lower limb	1785	DNM2	ORPHA:169189
HP:0002814	Abnormality of the lower limb	6261	RYR1	ORPHA:169189
HP:0002814	Abnormality of the lower limb	8139	GAN	OMIM:256850
HP:0002814	Abnormality of the lower limb	6548	SLC9A1	OMIM:616291
HP:0002814	Abnormality of the lower limb	5611	DNAJC3	OMIM:616192
HP:0002814	Abnormality of the lower limb	5611	DNAJC3	ORPHA:445062
HP:0002814	Abnormality of the lower limb	8557	TCAP	OMIM:601954
HP:0002814	Abnormality of the lower limb	3508	IGHMBP2	OMIM:616155
HP:0002814	Abnormality of the lower limb	80347	COASY	OMIM:615643
HP:0002814	Abnormality of the lower limb	547	KIF1A	OMIM:614213
HP:0002814	Abnormality of the lower limb	8884	SLC5A6	OMIM:619903
HP:0002814	Abnormality of the lower limb	84876	ORAI1	OMIM:615883
HP:0002814	Abnormality of the lower limb	5376	PMP22	ORPHA:90658
HP:0002814	Abnormality of the lower limb	3708	ITPR1	OMIM:206700
HP:0002814	Abnormality of the lower limb	374393	FAM111B	OMIM:615704
HP:0002814	Abnormality of the lower limb	3710	ITPR3	OMIM:620111
HP:0002814	Abnormality of the lower limb	26353	HSPB8	OMIM:158590
HP:0002814	Abnormality of the lower limb	6786	STIM1	OMIM:160565
HP:0002814	Abnormality of the lower limb	3475	IFRD1	ORPHA:98771
HP:0002814	Abnormality of the lower limb	23299	BICD2	OMIM:615290
HP:0002814	Abnormality of the lower limb	23769	FLRT1	ORPHA:320406
HP:0002814	Abnormality of the lower limb	64837	KLC2	ORPHA:320406
HP:0002814	Abnormality of the lower limb	122622	ADSS1	OMIM:617030
HP:0002814	Abnormality of the lower limb	25923	ATL3	OMIM:615632
HP:0002814	Abnormality of the lower limb	2318	FLNC	ORPHA:63273
HP:0002814	Abnormality of the lower limb	9499	MYOT	OMIM:609200
HP:0002814	Abnormality of the lower limb	5582	PRKCG	ORPHA:98763
HP:0002814	Abnormality of the lower limb	10159	ATP6AP2	ORPHA:93952
HP:0002814	Abnormality of the lower limb	9517	SPTLC2	OMIM:613640
HP:0002814	Abnormality of the lower limb	22868	FASTKD2	OMIM:618855
HP:0002814	Abnormality of the lower limb	9711	RUBCN	OMIM:615705
HP:0002814	Abnormality of the lower limb	11155	LDB3	OMIM:609452
HP:0002814	Abnormality of the lower limb	10940	POP1	OMIM:617396
HP:0002814	Abnormality of the lower limb	54543	TOMM7	OMIM:620601
HP:0002814	Abnormality of the lower limb	2517	FUCA1	OMIM:230000
HP:0002814	Abnormality of the lower limb	11146	GLMN	ORPHA:83454
HP:0002814	Abnormality of the lower limb	4318	MMP9	ORPHA:1040
HP:0002814	Abnormality of the lower limb	4322	MMP13	ORPHA:1040
HP:0002814	Abnormality of the lower limb	1758	DMP1	ORPHA:289176
HP:0002814	Abnormality of the lower limb	5167	ENPP1	ORPHA:289176
HP:0002814	Abnormality of the lower limb	5921	RASA1	ORPHA:90307
HP:0002814	Abnormality of the lower limb	2263	FGFR2	ORPHA:313855
HP:0002814	Abnormality of the lower limb	2776	GNAQ	ORPHA:624
HP:0002814	Abnormality of the lower limb	64093	SMOC1	ORPHA:1106
HP:0002814	Abnormality of the lower limb	10262	SF3B4	ORPHA:245
HP:0002814	Abnormality of the lower limb	2316	FLNA	OMIM:300244
HP:0002814	Abnormality of the lower limb	1294	COL7A1	ORPHA:158673
HP:0002814	Abnormality of the lower limb	8074	FGF23	OMIM:193100
HP:0002814	Abnormality of the lower limb	3516	RBPJ	ORPHA:974
HP:0002814	Abnormality of the lower limb	4851	NOTCH1	ORPHA:974
HP:0002814	Abnormality of the lower limb	57514	ARHGAP31	ORPHA:974
HP:0002814	Abnormality of the lower limb	57572	DOCK6	ORPHA:974
HP:0002814	Abnormality of the lower limb	285203	EOGT	ORPHA:974
HP:0002814	Abnormality of the lower limb	54567	DLL4	ORPHA:974
HP:0002814	Abnormality of the lower limb	1756	DMD	ORPHA:98895
HP:0002814	Abnormality of the lower limb	2767	GNA11	ORPHA:1556
HP:0002814	Abnormality of the lower limb	151188	ARL6IP6	ORPHA:1556
HP:0002814	Abnormality of the lower limb	65125	WNK1	ORPHA:970
HP:0002814	Abnormality of the lower limb	54463	RETREG1	ORPHA:970
HP:0002814	Abnormality of the lower limb	3852	KRT5	ORPHA:158681
HP:0002814	Abnormality of the lower limb	7132	TNFRSF1A	ORPHA:329967
HP:0002814	Abnormality of the lower limb	8292	COLQ	ORPHA:98915
HP:0002814	Abnormality of the lower limb	3913	LAMB2	ORPHA:98915
HP:0002814	Abnormality of the lower limb	4054	LTBP3	ORPHA:969
HP:0002814	Abnormality of the lower limb	2717	GLA	ORPHA:324
HP:0002814	Abnormality of the lower limb	2778	GNAS	ORPHA:562
HP:0002814	Abnormality of the lower limb	10082	GPC6	ORPHA:93329
HP:0002814	Abnormality of the lower limb	55703	POLR3B	OMIM:614381
HP:0002814	Abnormality of the lower limb	6536	SLC6A9	OMIM:617301
HP:0002814	Abnormality of the lower limb	9915	ARNT2	OMIM:615926
HP:0002814	Abnormality of the lower limb	79158	GNPTAB	OMIM:252500
HP:0002814	Abnormality of the lower limb	79158	GNPTAB	ORPHA:576
HP:0002814	Abnormality of the lower limb	1351	COX8A	OMIM:619059
HP:0002814	Abnormality of the lower limb	3572	IL6ST	OMIM:618523
HP:0002814	Abnormality of the lower limb	22872	SEC31A	OMIM:618651
HP:0002814	Abnormality of the lower limb	28514	DLL1	ORPHA:93926
HP:0002814	Abnormality of the lower limb	28514	DLL1	ORPHA:93924
HP:0002814	Abnormality of the lower limb	28514	DLL1	ORPHA:93925
HP:0002814	Abnormality of the lower limb	28514	DLL1	ORPHA:220386
HP:0002814	Abnormality of the lower limb	6496	SIX3	ORPHA:93926
HP:0002814	Abnormality of the lower limb	6496	SIX3	ORPHA:93924
HP:0002814	Abnormality of the lower limb	6496	SIX3	ORPHA:93925
HP:0002814	Abnormality of the lower limb	6496	SIX3	ORPHA:220386
HP:0002814	Abnormality of the lower limb	7050	TGIF1	ORPHA:93926
HP:0002814	Abnormality of the lower limb	7050	TGIF1	ORPHA:93924
HP:0002814	Abnormality of the lower limb	7050	TGIF1	ORPHA:93925
HP:0002814	Abnormality of the lower limb	7050	TGIF1	ORPHA:220386
HP:0002814	Abnormality of the lower limb	4838	NODAL	ORPHA:93926
HP:0002814	Abnormality of the lower limb	4838	NODAL	ORPHA:93924
HP:0002814	Abnormality of the lower limb	4838	NODAL	ORPHA:93925
HP:0002814	Abnormality of the lower limb	4838	NODAL	ORPHA:220386
HP:0002814	Abnormality of the lower limb	7546	ZIC2	ORPHA:93926
HP:0002814	Abnormality of the lower limb	7546	ZIC2	ORPHA:93924
HP:0002814	Abnormality of the lower limb	7546	ZIC2	ORPHA:93925
HP:0002814	Abnormality of the lower limb	7546	ZIC2	ORPHA:220386
HP:0002814	Abnormality of the lower limb	6491	STIL	ORPHA:93926
HP:0002814	Abnormality of the lower limb	6491	STIL	ORPHA:93924
HP:0002814	Abnormality of the lower limb	6491	STIL	ORPHA:93925
HP:0002814	Abnormality of the lower limb	6491	STIL	ORPHA:220386
HP:0002814	Abnormality of the lower limb	2619	GAS1	ORPHA:93926
HP:0002814	Abnormality of the lower limb	2619	GAS1	ORPHA:93924
HP:0002814	Abnormality of the lower limb	2619	GAS1	ORPHA:93925
HP:0002814	Abnormality of the lower limb	2619	GAS1	ORPHA:220386
HP:0002814	Abnormality of the lower limb	84976	DISP1	ORPHA:93926
HP:0002814	Abnormality of the lower limb	84976	DISP1	ORPHA:93924
HP:0002814	Abnormality of the lower limb	84976	DISP1	ORPHA:93925
HP:0002814	Abnormality of the lower limb	84976	DISP1	ORPHA:220386
HP:0002814	Abnormality of the lower limb	2736	GLI2	ORPHA:93926
HP:0002814	Abnormality of the lower limb	2736	GLI2	ORPHA:93924
HP:0002814	Abnormality of the lower limb	2736	GLI2	ORPHA:93925
HP:0002814	Abnormality of the lower limb	2736	GLI2	ORPHA:220386
HP:0002814	Abnormality of the lower limb	8928	FOXH1	ORPHA:93926
HP:0002814	Abnormality of the lower limb	8928	FOXH1	ORPHA:93924
HP:0002814	Abnormality of the lower limb	8928	FOXH1	ORPHA:93925
HP:0002814	Abnormality of the lower limb	8928	FOXH1	ORPHA:220386
HP:0002814	Abnormality of the lower limb	6997	CRIPTO	ORPHA:93926
HP:0002814	Abnormality of the lower limb	6997	CRIPTO	ORPHA:93924
HP:0002814	Abnormality of the lower limb	6997	CRIPTO	ORPHA:93925
HP:0002814	Abnormality of the lower limb	6997	CRIPTO	ORPHA:220386
HP:0002814	Abnormality of the lower limb	50937	CDON	ORPHA:93926
HP:0002814	Abnormality of the lower limb	50937	CDON	ORPHA:93924
HP:0002814	Abnormality of the lower limb	50937	CDON	ORPHA:93925
HP:0002814	Abnormality of the lower limb	50937	CDON	ORPHA:220386
HP:0002814	Abnormality of the lower limb	23007	PLCH1	ORPHA:93925
HP:0002814	Abnormality of the lower limb	1857	DVL3	ORPHA:3107
HP:0002814	Abnormality of the lower limb	2535	FZD2	ORPHA:3107
HP:0002814	Abnormality of the lower limb	81031	SLC2A10	ORPHA:3342
HP:0002814	Abnormality of the lower limb	145258	GSC	OMIM:602471
HP:0002814	Abnormality of the lower limb	6558	SLC12A2	OMIM:619083
HP:0002814	Abnormality of the lower limb	78989	COLEC11	OMIM:265050
HP:0002814	Abnormality of the lower limb	78989	COLEC11	ORPHA:293843
HP:0002814	Abnormality of the lower limb	3187	HNRNPH1	OMIM:620083
HP:0002814	Abnormality of the lower limb	30008	EFEMP2	ORPHA:90349
HP:0002814	Abnormality of the lower limb	9775	EIF4A3	OMIM:268305
HP:0002814	Abnormality of the lower limb	56896	DPYSL5	OMIM:619435
HP:0002814	Abnormality of the lower limb	79796	ALG9	OMIM:608776
HP:0002814	Abnormality of the lower limb	8085	KMT2D	ORPHA:2322
HP:0002814	Abnormality of the lower limb	7403	KDM6A	ORPHA:2322
HP:0002814	Abnormality of the lower limb	7403	KDM6A	OMIM:300867
HP:0002814	Abnormality of the lower limb	23499	MACF1	ORPHA:572013
HP:0002814	Abnormality of the lower limb	387119	CEP85L	ORPHA:572013
HP:0002814	Abnormality of the lower limb	2530	FUT8	OMIM:618005
HP:0002814	Abnormality of the lower limb	29920	PYCR2	ORPHA:481152
HP:0002814	Abnormality of the lower limb	6678	SPARC	OMIM:616507
HP:0002814	Abnormality of the lower limb	9509	ADAMTS2	ORPHA:1901
HP:0002814	Abnormality of the lower limb	25778	DSTYK	ORPHA:101003
HP:0002814	Abnormality of the lower limb	2743	GLRB	ORPHA:3197
HP:0002814	Abnormality of the lower limb	2741	GLRA1	ORPHA:3197
HP:0002814	Abnormality of the lower limb	2741	GLRA1	OMIM:149400
HP:0002814	Abnormality of the lower limb	10243	GPHN	ORPHA:3197
HP:0002814	Abnormality of the lower limb	10243	GPHN	OMIM:149400
HP:0002814	Abnormality of the lower limb	84896	ATAD1	ORPHA:3197
HP:0002814	Abnormality of the lower limb	9152	SLC6A5	ORPHA:3197
HP:0002814	Abnormality of the lower limb	26175	LYSET	OMIM:619345
HP:0002814	Abnormality of the lower limb	55644	OSGEP	OMIM:617729
HP:0002814	Abnormality of the lower limb	23443	SLC35A3	OMIM:615553
HP:0002814	Abnormality of the lower limb	23443	SLC35A3	ORPHA:370943
HP:0002814	Abnormality of the lower limb	10584	COLEC10	ORPHA:293843
HP:0002814	Abnormality of the lower limb	6913	TBX15	OMIM:260660
HP:0002814	Abnormality of the lower limb	523	ATP6V1A	OMIM:617403
HP:0002814	Abnormality of the lower limb	3207	HOXA11	OMIM:605432
HP:0002814	Abnormality of the lower limb	1497	CTNS	OMIM:219800
HP:0002814	Abnormality of the lower limb	51256	TBC1D7	OMIM:248000
HP:0002814	Abnormality of the lower limb	7360	UGP2	OMIM:618744
HP:0002814	Abnormality of the lower limb	10992	SF3B2	OMIM:164210
HP:0002814	Abnormality of the lower limb	4125	MAN2B1	ORPHA:309282
HP:0002814	Abnormality of the lower limb	56203	LMOD3	ORPHA:171436
HP:0002814	Abnormality of the lower limb	176	ACAN	OMIM:608361
HP:0002814	Abnormality of the lower limb	815	CAMK2A	OMIM:617798
HP:0002814	Abnormality of the lower limb	4853	NOTCH2	OMIM:102500
HP:0002814	Abnormality of the lower limb	83480	PUS3	ORPHA:488627
HP:0002814	Abnormality of the lower limb	1588	CYP19A1	ORPHA:91
HP:0002814	Abnormality of the lower limb	9653	HS2ST1	OMIM:619194
HP:0002814	Abnormality of the lower limb	3043	HBB	ORPHA:231214
HP:0002814	Abnormality of the lower limb	3043	HBB	ORPHA:231226
HP:0002814	Abnormality of the lower limb	4952	OCRL	OMIM:309000
HP:0002814	Abnormality of the lower limb	4952	OCRL	ORPHA:534
HP:0002814	Abnormality of the lower limb	1186	CLCN7	ORPHA:53
HP:0002814	Abnormality of the lower limb	8600	TNFSF11	OMIM:259710
HP:0002814	Abnormality of the lower limb	10466	COG5	ORPHA:263487
HP:0002814	Abnormality of the lower limb	579	NKX3-2	OMIM:613330
HP:0002814	Abnormality of the lower limb	79903	NAA60	OMIM:620786
HP:0002814	Abnormality of the lower limb	411	ARSB	OMIM:253200
HP:0002814	Abnormality of the lower limb	8882	ZPR1	OMIM:619321
HP:0002814	Abnormality of the lower limb	55784	MCTP2	ORPHA:1596
HP:0002814	Abnormality of the lower limb	153642	ARSK	OMIM:619698
HP:0002814	Abnormality of the lower limb	4998	ORC1	OMIM:224690
HP:0002814	Abnormality of the lower limb	5604	MAP2K1	ORPHA:1340
HP:0002814	Abnormality of the lower limb	5605	MAP2K2	ORPHA:1340
HP:0002814	Abnormality of the lower limb	9451	EIF2AK3	OMIM:226980
HP:0002814	Abnormality of the lower limb	860	RUNX2	ORPHA:1452
HP:0002814	Abnormality of the lower limb	6424	SFRP4	OMIM:265900
HP:0002814	Abnormality of the lower limb	6711	SPTBN1	OMIM:619475
HP:0002814	Abnormality of the lower limb	2588	GALNS	OMIM:253000
HP:0002814	Abnormality of the lower limb	80152	CENPT	OMIM:618702
HP:0002814	Abnormality of the lower limb	5184	PEPD	ORPHA:742
HP:0002814	Abnormality of the lower limb	80169	CTC1	OMIM:612199
HP:0002814	Abnormality of the lower limb	25871	NEPRO	OMIM:618853
HP:0002814	Abnormality of the lower limb	871	SERPINH1	OMIM:613848
HP:0002814	Abnormality of the lower limb	79631	EFL1	OMIM:617941
HP:0002814	Abnormality of the lower limb	284403	WDR62	OMIM:604317
HP:0002814	Abnormality of the lower limb	4052	LTBP1	OMIM:619451
HP:0002814	Abnormality of the lower limb	6137	RPL13	OMIM:618728
HP:0002814	Abnormality of the lower limb	9675	TTI1	OMIM:620445
HP:0002814	Abnormality of the lower limb	6578	SLCO2A1	ORPHA:2796
HP:0002814	Abnormality of the lower limb	5442	POLRMT	OMIM:619743
HP:0002814	Abnormality of the lower limb	23594	ORC6	OMIM:613803
HP:0002814	Abnormality of the lower limb	1576	CYP3A4	OMIM:619073
HP:0002814	Abnormality of the lower limb	4921	DDR2	OMIM:271665
HP:0002814	Abnormality of the lower limb	1184	CLCN5	OMIM:300554
HP:0002814	Abnormality of the lower limb	1184	CLCN5	OMIM:300009
HP:0002814	Abnormality of the lower limb	142680	SLC34A3	OMIM:241530
HP:0002814	Abnormality of the lower limb	142680	SLC34A3	ORPHA:157215
HP:0002814	Abnormality of the lower limb	55325	UFSP2	OMIM:617974
HP:0002814	Abnormality of the lower limb	9060	PAPSS2	OMIM:612847
HP:0002814	Abnormality of the lower limb	65992	DDRGK1	ORPHA:93352
HP:0002814	Abnormality of the lower limb	4148	MATN3	OMIM:608728
HP:0002814	Abnormality of the lower limb	4148	MATN3	ORPHA:156728
HP:0002814	Abnormality of the lower limb	51360	MBTPS2	OMIM:301014
HP:0002814	Abnormality of the lower limb	8318	CDC45	OMIM:617063
HP:0002814	Abnormality of the lower limb	5130	PCYT1A	ORPHA:85167
HP:0002814	Abnormality of the lower limb	5130	PCYT1A	OMIM:608940
HP:0002814	Abnormality of the lower limb	5176	SERPINF1	OMIM:613982
HP:0002814	Abnormality of the lower limb	23187	PHLDB1	OMIM:620639
HP:0002814	Abnormality of the lower limb	10686	CLDN16	OMIM:248250
HP:0002814	Abnormality of the lower limb	120227	CYP2R1	OMIM:600081
HP:0002814	Abnormality of the lower limb	1962	EHHADH	OMIM:615605
HP:0002814	Abnormality of the lower limb	1300	COL10A1	ORPHA:174
HP:0002814	Abnormality of the lower limb	6569	SLC34A1	ORPHA:157215
HP:0002814	Abnormality of the lower limb	10491	CRTAP	OMIM:610682
HP:0002814	Abnormality of the lower limb	372	ARCN1	OMIM:617164
HP:0002814	Abnormality of the lower limb	1594	CYP27B1	OMIM:264700
HP:0002814	Abnormality of the lower limb	4507	MTAP	OMIM:112250
HP:0002814	Abnormality of the lower limb	7421	VDR	OMIM:277440
HP:0002814	Abnormality of the lower limb	54	ACP5	ORPHA:1855
HP:0002814	Abnormality of the lower limb	121340	SP7	OMIM:613849
HP:0002814	Abnormality of the lower limb	55503	TRPV6	OMIM:618188
HP:0002814	Abnormality of the lower limb	5352	PLOD2	OMIM:609220
HP:0002814	Abnormality of the lower limb	3911	LAMA5	OMIM:620076
HP:0002814	Abnormality of the lower limb	64175	P3H1	OMIM:610915
HP:0002814	Abnormality of the lower limb	55603	TENT5A	OMIM:617952
HP:0002814	Abnormality of the lower limb	284086	NEK8	OMIM:615415
HP:0002814	Abnormality of the lower limb	166929	SGMS2	OMIM:126550
HP:0002814	Abnormality of the lower limb	55151	TMEM38B	OMIM:615066
HP:0002814	Abnormality of the lower limb	8792	TNFRSF11A	OMIM:602080
HP:0002814	Abnormality of the lower limb	649	BMP1	OMIM:614856
HP:0002814	Abnormality of the lower limb	8218	CLTCL1	ORPHA:453510
HP:0002814	Abnormality of the lower limb	727857	BHLHA9	ORPHA:3329
HP:0002814	Abnormality of the lower limb	6469	SHH	ORPHA:988
HP:0002814	Abnormality of the lower limb	7476	WNT7A	ORPHA:2879
HP:0002814	Abnormality of the lower limb	6916	TBXAS1	ORPHA:1802
HP:0002814	Abnormality of the lower limb	3248	HPGD	ORPHA:1525
HP:0002814	Abnormality of the lower limb	9723	SEMA3E	ORPHA:138
HP:0002814	Abnormality of the lower limb	375	ARF1	ORPHA:98892
HP:0002814	Abnormality of the lower limb	10564	ARFGEF2	ORPHA:98892
HP:0002814	Abnormality of the lower limb	91461	PKDCC	OMIM:618821
HP:0002814	Abnormality of the lower limb	5718	PSMD12	ORPHA:529962
HP:0002814	Abnormality of the lower limb	9241	NOG	ORPHA:1412
HP:0002814	Abnormality of the lower limb	54681	P4HTM	ORPHA:436141
HP:0002814	Abnormality of the lower limb	27152	INTU	OMIM:617925
HP:0002814	Abnormality of the lower limb	55148	UBR7	OMIM:619189
HP:0002814	Abnormality of the lower limb	54187	NANS	OMIM:610442
HP:0002814	Abnormality of the lower limb	5286	PIK3C2A	ORPHA:557003
HP:0002814	Abnormality of the lower limb	10588	MTHFS	OMIM:618367
HP:0002814	Abnormality of the lower limb	8540	AGPS	OMIM:600121
HP:0002814	Abnormality of the lower limb	8802	SUCLG1	ORPHA:17
HP:0002814	Abnormality of the lower limb	3373	HYAL1	ORPHA:67041
HP:0002814	Abnormality of the lower limb	1108	CHD4	OMIM:617159
HP:0002814	Abnormality of the lower limb	4593	MUSK	OMIM:208150
HP:0002814	Abnormality of the lower limb	29895	MYL11	OMIM:619110
HP:0002814	Abnormality of the lower limb	285175	UNC80	OMIM:616801
HP:0002814	Abnormality of the lower limb	285175	UNC80	ORPHA:371364
HP:0002814	Abnormality of the lower limb	8443	GNPAT	OMIM:222765
HP:0002814	Abnormality of the lower limb	23522	KAT6B	ORPHA:85201
HP:0002814	Abnormality of the lower limb	23522	KAT6B	OMIM:606170
HP:0002814	Abnormality of the lower limb	163175	LGI4	OMIM:617468
HP:0002814	Abnormality of the lower limb	4773	NFATC2	OMIM:620232
HP:0002814	Abnormality of the lower limb	2157	F8	ORPHA:169805
HP:0002814	Abnormality of the lower limb	7317	UBA1	ORPHA:1145
HP:0002814	Abnormality of the lower limb	4632	MYL1	OMIM:618414
HP:0002814	Abnormality of the lower limb	755	CFAP410	OMIM:602271
HP:0002814	Abnormality of the lower limb	6729	SRP54	OMIM:260400
HP:0002814	Abnormality of the lower limb	51119	SBDS	OMIM:260400
HP:0002814	Abnormality of the lower limb	134218	DNAJC21	OMIM:260400
HP:0002814	Abnormality of the lower limb	11232	POLG2	ORPHA:254892
HP:0002814	Abnormality of the lower limb	4287	ATXN3	OMIM:109150
HP:0002814	Abnormality of the lower limb	25894	PLEKHG4	ORPHA:98765
HP:0002814	Abnormality of the lower limb	7504	XK	OMIM:300842
HP:0002814	Abnormality of the lower limb	8878	SQSTM1	OMIM:617158
HP:0002814	Abnormality of the lower limb	2632	GBE1	OMIM:263570
HP:0002814	Abnormality of the lower limb	84342	COG8	OMIM:611182
HP:0002814	Abnormality of the lower limb	5981	RFC1	OMIM:614575
HP:0002814	Abnormality of the lower limb	6445	SGCG	ORPHA:353
HP:0002814	Abnormality of the lower limb	6445	SGCG	OMIM:253700
HP:0002814	Abnormality of the lower limb	29954	POMT2	ORPHA:370959
HP:0002814	Abnormality of the lower limb	84197	POMK	ORPHA:370959
HP:0002814	Abnormality of the lower limb	55624	POMGNT1	ORPHA:370959
HP:0002814	Abnormality of the lower limb	10585	POMT1	ORPHA:370959
HP:0002814	Abnormality of the lower limb	1605	DAG1	ORPHA:280333
HP:0002814	Abnormality of the lower limb	22954	TRIM32	OMIM:254110
HP:0002814	Abnormality of the lower limb	6443	SGCB	OMIM:604286
HP:0002814	Abnormality of the lower limb	6442	SGCA	ORPHA:62
HP:0002814	Abnormality of the lower limb	729920	CRPPA	ORPHA:352479
HP:0002814	Abnormality of the lower limb	6399	TRAPPC2	ORPHA:93284
HP:0002814	Abnormality of the lower limb	2879	GPX4	OMIM:250220
HP:0002814	Abnormality of the lower limb	94005	PIGS	OMIM:618143
HP:0002814	Abnormality of the lower limb	3081	HGD	ORPHA:56
HP:0002814	Abnormality of the lower limb	3081	HGD	OMIM:203500
HP:0002814	Abnormality of the lower limb	3848	KRT1	ORPHA:530838
HP:0002814	Abnormality of the lower limb	11253	MAN1B1	ORPHA:397941
HP:0002814	Abnormality of the lower limb	5898	RALA	OMIM:619311
HP:0002814	Abnormality of the lower limb	5927	KDM5A	OMIM:620820
HP:0002814	Abnormality of the lower limb	8854	ALDH1A2	OMIM:620025
HP:0002814	Abnormality of the lower limb	10274	STAG1	ORPHA:502434
HP:0002814	Abnormality of the lower limb	85358	SHANK3	OMIM:606232
HP:0002814	Abnormality of the lower limb	51057	WDPCP	OMIM:217085
HP:0002814	Abnormality of the lower limb	23327	NEDD4L	OMIM:617201
HP:0002814	Abnormality of the lower limb	57178	ZMIZ1	OMIM:618659
HP:0002814	Abnormality of the lower limb	80185	TTI2	ORPHA:391307
HP:0002814	Abnormality of the lower limb	3590	IL11RA	OMIM:614188
HP:0002814	Abnormality of the lower limb	55165	CEP55	OMIM:236500
HP:0002814	Abnormality of the lower limb	10907	TXNL4A	OMIM:608572
HP:0002814	Abnormality of the lower limb	284252	KCTD1	OMIM:181270
HP:0002814	Abnormality of the lower limb	2222	FDFT1	OMIM:618156
HP:0002814	Abnormality of the lower limb	6472	SHMT2	OMIM:619121
HP:0002814	Abnormality of the lower limb	57570	TRMT5	OMIM:616539
HP:0002814	Abnormality of the lower limb	23529	CLCF1	OMIM:610313
HP:0002814	Abnormality of the lower limb	745	MYRF	OMIM:618280
HP:0002814	Abnormality of the lower limb	23387	SIK3	OMIM:618162
HP:0002814	Abnormality of the lower limb	1663	DDX11	OMIM:613398
HP:0002814	Abnormality of the lower limb	9757	KMT2B	OMIM:619934
HP:0002814	Abnormality of the lower limb	4848	CNOT2	OMIM:618608
HP:0002814	Abnormality of the lower limb	55023	PHIP	ORPHA:589905
HP:0002814	Abnormality of the lower limb	341208	HEPHL1	OMIM:261990
HP:0002814	Abnormality of the lower limb	55212	BBS7	OMIM:615984
HP:0002814	Abnormality of the lower limb	81607	NECTIN4	OMIM:613573
HP:0002814	Abnormality of the lower limb	6872	TAF1	OMIM:300966
HP:0002814	Abnormality of the lower limb	9842	PLEKHM1	OMIM:611497
HP:0002814	Abnormality of the lower limb	9842	PLEKHM1	ORPHA:210110
HP:0002814	Abnormality of the lower limb	56172	ANKH	OMIM:123000
HP:0002814	Abnormality of the lower limb	10312	TCIRG1	ORPHA:210110
HP:0002814	Abnormality of the lower limb	1436	CSF1R	OMIM:618476
HP:0002814	Abnormality of the lower limb	5660	PSAP	OMIM:610539
HP:0002814	Abnormality of the lower limb	950	SCARB2	ORPHA:77259
HP:0002814	Abnormality of the lower limb	347734	SLC35B2	OMIM:620269
HP:0002814	Abnormality of the lower limb	4982	TNFRSF11B	OMIM:239000
HP:0002814	Abnormality of the lower limb	10342	TFG	ORPHA:431329
HP:0002814	Abnormality of the lower limb	79147	FKRP	ORPHA:34515
HP:0002814	Abnormality of the lower limb	23204	ARL6IP1	ORPHA:401780
HP:0002814	Abnormality of the lower limb	5456	POU3F4	ORPHA:1435
HP:0002814	Abnormality of the lower limb	3549	IHH	OMIM:112500
HP:0002814	Abnormality of the lower limb	10216	PRG4	OMIM:208250
HP:0002814	Abnormality of the lower limb	2707	GJB3	ORPHA:317
HP:0002814	Abnormality of the lower limb	2707	GJB3	OMIM:133200
HP:0002814	Abnormality of the lower limb	79152	FA2H	ORPHA:171629
HP:0002814	Abnormality of the lower limb	10352	WARS2	ORPHA:572798
HP:0002814	Abnormality of the lower limb	55210	ATAD3A	ORPHA:496790
HP:0002814	Abnormality of the lower limb	27145	FILIP1	OMIM:620775
HP:0002814	Abnormality of the lower limb	1737	DLAT	ORPHA:79244
HP:0002814	Abnormality of the lower limb	23261	CAMTA1	OMIM:614756
HP:0002814	Abnormality of the lower limb	8823	FGF16	OMIM:309630
HP:0002814	Abnormality of the lower limb	2556	GABRA3	OMIM:301091
HP:0002814	Abnormality of the lower limb	55898	UNC45A	OMIM:619377
HP:0002814	Abnormality of the lower limb	26277	TINF2	OMIM:613990
HP:0002814	Abnormality of the lower limb	9652	SKIC3	OMIM:222470
HP:0002814	Abnormality of the lower limb	11277	TREX1	ORPHA:247691
HP:0002814	Abnormality of the lower limb	10847	SRCAP	ORPHA:2044
HP:0002814	Abnormality of the lower limb	374969	SVBP	OMIM:618569
HP:0002814	Abnormality of the lower limb	57688	ZSWIM6	ORPHA:1827
HP:0002814	Abnormality of the lower limb	139285	AMER1	OMIM:300373
HP:0002814	Abnormality of the lower limb	22978	NT5C2	ORPHA:320396
HP:0002814	Abnormality of the lower limb	64127	NOD2	OMIM:186580
HP:0002814	Abnormality of the lower limb	23102	TBC1D2B	OMIM:619323
HP:0002814	Abnormality of the lower limb	5696	PSMB8	OMIM:256040
HP:0002814	Abnormality of the lower limb	990	CDC6	OMIM:613805
HP:0002814	Abnormality of the lower limb	23141	ANKLE2	OMIM:616681
HP:0002814	Abnormality of the lower limb	92255	LMBRD2	OMIM:619694
HP:0002814	Abnormality of the lower limb	9051	PSTPIP1	OMIM:604416
HP:0002814	Abnormality of the lower limb	9791	PTDSS1	OMIM:151050
HP:0002814	Abnormality of the lower limb	5296	PIK3R2	OMIM:603387
HP:0002814	Abnormality of the lower limb	6389	SDHA	ORPHA:3208
HP:0002814	Abnormality of the lower limb	644096	SDHAF1	ORPHA:3208
HP:0002814	Abnormality of the lower limb	1140	CHRNB1	OMIM:616313
HP:0002814	Abnormality of the lower limb	51025	PAM16	OMIM:613320
HP:0002814	Abnormality of the lower limb	64841	GNPNAT1	OMIM:619598
HP:0002814	Abnormality of the lower limb	79639	TMEM53	OMIM:619727
HP:0002814	Abnormality of the lower limb	81620	CDT1	ORPHA:2554
HP:0002814	Abnormality of the lower limb	81620	CDT1	OMIM:613804
HP:0002814	Abnormality of the lower limb	5000	ORC4	ORPHA:2554
HP:0002814	Abnormality of the lower limb	5000	ORC4	OMIM:613800
HP:0002814	Abnormality of the lower limb	2184	FAH	ORPHA:882
HP:0002814	Abnormality of the lower limb	25914	RTTN	ORPHA:468631
HP:0002814	Abnormality of the lower limb	6509	SLC1A4	OMIM:616657
HP:0002814	Abnormality of the lower limb	26092	TOR1AIP1	OMIM:617072
HP:0002814	Abnormality of the lower limb	210	ALAD	ORPHA:100924
HP:0002814	Abnormality of the lower limb	513	ATP5F1D	OMIM:618120
HP:0002814	Abnormality of the lower limb	497661	C18orf32	OMIM:619985
HP:0002814	Abnormality of the lower limb	7407	VARS1	OMIM:617802
HP:0002814	Abnormality of the lower limb	5925	RB1	ORPHA:668
HP:0002814	Abnormality of the lower limb	11200	CHEK2	ORPHA:668
HP:0002814	Abnormality of the lower limb	5251	PHEX	ORPHA:89936
HP:0002814	Abnormality of the lower limb	5700	PSMC1	OMIM:620071
HP:0002814	Abnormality of the lower limb	3977	LIFR	OMIM:601559
HP:0002814	Abnormality of the lower limb	3977	LIFR	ORPHA:3206
HP:0002814	Abnormality of the lower limb	10613	ERLIN1	OMIM:615681
HP:0002814	Abnormality of the lower limb	6607	SMN2	OMIM:253400
HP:0002814	Abnormality of the lower limb	1080	CFTR	ORPHA:498359
HP:0002814	Abnormality of the lower limb	1508	CTSB	OMIM:148370
HP:0002814	Abnormality of the lower limb	80326	WNT10A	OMIM:150400
HP:0002814	Abnormality of the lower limb	80326	WNT10A	OMIM:257980
HP:0002814	Abnormality of the lower limb	8710	SERPINB7	OMIM:615598
HP:0002814	Abnormality of the lower limb	3872	KRT17	OMIM:167210
HP:0002814	Abnormality of the lower limb	3872	KRT17	ORPHA:2309
HP:0002814	Abnormality of the lower limb	162514	TRPV3	ORPHA:659
HP:0002814	Abnormality of the lower limb	64065	PERP	ORPHA:659
HP:0002814	Abnormality of the lower limb	284654	RSPO1	OMIM:610644
HP:0002814	Abnormality of the lower limb	3868	KRT16	ORPHA:2309
HP:0002814	Abnormality of the lower limb	3853	KRT6A	ORPHA:2309
HP:0002814	Abnormality of the lower limb	3854	KRT6B	ORPHA:2309
HP:0002814	Abnormality of the lower limb	1041	CDSN	OMIM:270300
HP:0002814	Abnormality of the lower limb	5317	PKP1	OMIM:604536
HP:0002814	Abnormality of the lower limb	3861	KRT14	ORPHA:89838
HP:0002814	Abnormality of the lower limb	3861	KRT14	OMIM:131800
HP:0002814	Abnormality of the lower limb	3861	KRT14	ORPHA:79400
HP:0002814	Abnormality of the lower limb	1828	DSG1	OMIM:148700
HP:0002814	Abnormality of the lower limb	362	AQP5	OMIM:600231
HP:0002814	Abnormality of the lower limb	362	AQP5	ORPHA:2337
HP:0002814	Abnormality of the lower limb	145264	SERPINA12	ORPHA:86923
HP:0002814	Abnormality of the lower limb	54800	KLHL24	OMIM:617294
HP:0002814	Abnormality of the lower limb	715	C1R	OMIM:130080
HP:0002814	Abnormality of the lower limb	22808	MRAS	OMIM:618499
HP:0002814	Abnormality of the lower limb	8216	LZTR1	OMIM:616564
HP:0002814	Abnormality of the lower limb	8216	LZTR1	OMIM:605275
HP:0002814	Abnormality of the lower limb	6016	RIT1	OMIM:615355
HP:0002814	Abnormality of the lower limb	831	CAST	OMIM:616295
HP:0002814	Abnormality of the lower limb	3914	LAMB3	OMIM:226650
HP:0002814	Abnormality of the lower limb	286887	KRT6C	OMIM:615735
HP:0002814	Abnormality of the lower limb	3857	KRT9	OMIM:144200
HP:0002814	Abnormality of the lower limb	79650	USB1	OMIM:604173
HP:0002814	Abnormality of the lower limb	64682	ANAPC1	ORPHA:221008
HP:0002814	Abnormality of the lower limb	56006	SMG9	OMIM:619995
HP:0002814	Abnormality of the lower limb	1861	TOR1A	OMIM:618947
HP:0002814	Abnormality of the lower limb	1292	COL6A2	ORPHA:75840
HP:0002814	Abnormality of the lower limb	1292	COL6A2	OMIM:620727
HP:0002814	Abnormality of the lower limb	1293	COL6A3	ORPHA:75840
HP:0002814	Abnormality of the lower limb	10236	HNRNPR	OMIM:620073
HP:0002814	Abnormality of the lower limb	9325	TRIP4	OMIM:617066
HP:0002814	Abnormality of the lower limb	9325	TRIP4	ORPHA:486815
HP:0002814	Abnormality of the lower limb	91869	RFT1	OMIM:612015
HP:0002814	Abnormality of the lower limb	93587	TRMT10A	ORPHA:391408
HP:0002814	Abnormality of the lower limb	84919	PPP1R15B	ORPHA:391408
HP:0002814	Abnormality of the lower limb	6329	SCN4A	OMIM:620351
HP:0002814	Abnormality of the lower limb	6329	SCN4A	OMIM:620369
HP:0002814	Abnormality of the lower limb	55777	MBD5	OMIM:156200
HP:0002814	Abnormality of the lower limb	23162	MAPK8IP3	OMIM:618443
HP:0002814	Abnormality of the lower limb	9215	LARGE1	OMIM:613154
HP:0002814	Abnormality of the lower limb	55107	ANO1	OMIM:620045
HP:0002814	Abnormality of the lower limb	57728	WDR19	OMIM:614378
HP:0002814	Abnormality of the lower limb	57728	WDR19	OMIM:614376
HP:0002814	Abnormality of the lower limb	2783	GNB2	OMIM:619503
HP:0002814	Abnormality of the lower limb	6926	TBX3	OMIM:181450
HP:0002814	Abnormality of the lower limb	1788	DNMT3A	ORPHA:404443
HP:0002814	Abnormality of the lower limb	55681	SCYL2	ORPHA:1143
HP:0002814	Abnormality of the lower limb	84570	COL25A1	ORPHA:1143
HP:0002814	Abnormality of the lower limb	57222	ERGIC1	ORPHA:1143
HP:0002814	Abnormality of the lower limb	2074	ERCC6	OMIM:278800
HP:0002814	Abnormality of the lower limb	10667	FARS2	ORPHA:466722
HP:0002814	Abnormality of the lower limb	9987	HNRNPDL	OMIM:609115
HP:0002814	Abnormality of the lower limb	10013	HDAC6	ORPHA:163966
HP:0002814	Abnormality of the lower limb	51305	KCNK9	ORPHA:166108
HP:0002814	Abnormality of the lower limb	4604	MYBPC1	OMIM:614335
HP:0002814	Abnormality of the lower limb	4312	MMP1	ORPHA:79408
HP:0002814	Abnormality of the lower limb	54828	BCAS3	OMIM:619641
HP:0002814	Abnormality of the lower limb	1235	CCR6	ORPHA:220402
HP:0002814	Abnormality of the lower limb	79932	KIAA0319L	ORPHA:220402
HP:0002814	Abnormality of the lower limb	1490	CCN2	ORPHA:220402
HP:0002814	Abnormality of the lower limb	3663	IRF5	ORPHA:220402
HP:0002814	Abnormality of the lower limb	3123	HLA-DRB1	ORPHA:220402
HP:0002814	Abnormality of the lower limb	1161	ERCC8	ORPHA:90321
HP:0002814	Abnormality of the lower limb	22856	CHSY1	ORPHA:363417
HP:0002814	Abnormality of the lower limb	22856	CHSY1	OMIM:605282
HP:0002814	Abnormality of the lower limb	267010	RNU12	ORPHA:85199
HP:0002814	Abnormality of the lower limb	3459	IFNGR1	OMIM:209950
HP:0002814	Abnormality of the lower limb	26146	TRAF3IP1	OMIM:616629
HP:0002814	Abnormality of the lower limb	84700	MYO18B	OMIM:616549
HP:0002814	Abnormality of the lower limb	8546	AP3B1	OMIM:608233
HP:0002814	Abnormality of the lower limb	29928	TIMM22	OMIM:618851
HP:0002814	Abnormality of the lower limb	6210	RPS15A	OMIM:618313
HP:0002814	Abnormality of the lower limb	65082	VPS33A	OMIM:617303
HP:0002814	Abnormality of the lower limb	5626	PROP1	ORPHA:226307
HP:0002814	Abnormality of the lower limb	89884	LHX4	ORPHA:226307
HP:0002814	Abnormality of the lower limb	8022	LHX3	ORPHA:226307
HP:0002814	Abnormality of the lower limb	5449	POU1F1	ORPHA:226307
HP:0002814	Abnormality of the lower limb	405753	DUOXA2	ORPHA:95716
HP:0002814	Abnormality of the lower limb	6528	SLC5A5	ORPHA:95716
HP:0002814	Abnormality of the lower limb	7038	TG	ORPHA:95716
HP:0002814	Abnormality of the lower limb	7173	TPO	ORPHA:95716
HP:0002814	Abnormality of the lower limb	389434	IYD	ORPHA:95716
HP:0002814	Abnormality of the lower limb	50506	DUOX2	ORPHA:95716
HP:0002814	Abnormality of the lower limb	7253	TSHR	ORPHA:90673
HP:0002814	Abnormality of the lower limb	7252	TSHB	ORPHA:90674
HP:0002814	Abnormality of the lower limb	203547	VMA21	OMIM:310440
HP:0002814	Abnormality of the lower limb	2010	EMD	ORPHA:98863
HP:0002814	Abnormality of the lower limb	79188	TMEM43	ORPHA:98853
HP:0002814	Abnormality of the lower limb	23224	SYNE2	ORPHA:98853
HP:0002814	Abnormality of the lower limb	2201	FBN2	OMIM:121050
HP:0002814	Abnormality of the lower limb	6736	SRY	ORPHA:1772
HP:0002814	Abnormality of the lower limb	1180	CLCN1	OMIM:255700
HP:0002814	Abnormality of the lower limb	9829	DNAJC6	ORPHA:391411
HP:0002814	Abnormality of the lower limb	5420	PODXL	ORPHA:391411
HP:0002814	Abnormality of the lower limb	8867	SYNJ1	ORPHA:391411
HP:0002814	Abnormality of the lower limb	8867	SYNJ1	OMIM:615530
HP:0002814	Abnormality of the lower limb	55129	ANO10	ORPHA:284289
HP:0002814	Abnormality of the lower limb	1410	CRYAB	OMIM:608810
HP:0002814	Abnormality of the lower limb	3798	KIF5A	ORPHA:100991
HP:0002814	Abnormality of the lower limb	5297	PI4KA	OMIM:619621
HP:0002814	Abnormality of the lower limb	23503	ZFYVE26	ORPHA:100996
HP:0002814	Abnormality of the lower limb	6683	SPAST	ORPHA:100985
HP:0002814	Abnormality of the lower limb	55157	DARS2	ORPHA:137898
HP:0002814	Abnormality of the lower limb	10367	MICU1	OMIM:615673
HP:0002814	Abnormality of the lower limb	825	CAPN3	ORPHA:267
HP:0002814	Abnormality of the lower limb	5346	PLIN1	ORPHA:280356
HP:0002814	Abnormality of the lower limb	63924	CIDEC	ORPHA:435651
HP:0002814	Abnormality of the lower limb	6444	SGCD	OMIM:601287
HP:0002814	Abnormality of the lower limb	2483	FRG1	OMIM:158900
HP:0002814	Abnormality of the lower limb	146862	UNC45B	OMIM:619178
HP:0002814	Abnormality of the lower limb	64208	POPDC3	OMIM:618848
HP:0002814	Abnormality of the lower limb	55679	LIMS2	OMIM:616827
HP:0002814	Abnormality of the lower limb	7555	CNBP	ORPHA:606
HP:0002814	Abnormality of the lower limb	9217	VAPB	ORPHA:209335
HP:0002814	Abnormality of the lower limb	84892	POMGNT2	OMIM:618135
HP:0002814	Abnormality of the lower limb	3908	LAMA2	OMIM:618138
HP:0002814	Abnormality of the lower limb	8449	DHX16	OMIM:618733
HP:0002814	Abnormality of the lower limb	367	AR	OMIM:313200
HP:0002814	Abnormality of the lower limb	3156	HMGCR	OMIM:620375
HP:0002814	Abnormality of the lower limb	8425	LTBP4	ORPHA:98896
HP:0002814	Abnormality of the lower limb	2137	EXTL3	ORPHA:508533
HP:0002814	Abnormality of the lower limb	51062	ATL1	ORPHA:100984
HP:0002814	Abnormality of the lower limb	10020	GNE	OMIM:605820
HP:0002814	Abnormality of the lower limb	4137	MAPT	ORPHA:240094
HP:0002814	Abnormality of the lower limb	9782	MATR3	OMIM:606070
HP:0002814	Abnormality of the lower limb	4311	MME	OMIM:617017
HP:0002814	Abnormality of the lower limb	4311	MME	ORPHA:497764
HP:0002814	Abnormality of the lower limb	4508	MT-ATP6	ORPHA:320360
HP:0002814	Abnormality of the lower limb	2617	GARS1	ORPHA:139536
HP:0002814	Abnormality of the lower limb	26580	BSCL2	ORPHA:139536
HP:0002814	Abnormality of the lower limb	26580	BSCL2	OMIM:619112
HP:0002814	Abnormality of the lower limb	65055	REEP1	ORPHA:139536
HP:0002814	Abnormality of the lower limb	11284	PNKP	ORPHA:459033
HP:0002814	Abnormality of the lower limb	55775	TDP1	ORPHA:94124
HP:0002814	Abnormality of the lower limb	5339	PLEC	ORPHA:254361
HP:0002814	Abnormality of the lower limb	7879	RAB7A	OMIM:600882
HP:0002814	Abnormality of the lower limb	200205	IBA57	ORPHA:468661
HP:0002814	Abnormality of the lower limb	3714	JAG2	OMIM:619566
HP:0002814	Abnormality of the lower limb	6652	SORD	OMIM:618912
HP:0002814	Abnormality of the lower limb	79048	SECISBP2	ORPHA:171706
HP:0002814	Abnormality of the lower limb	22880	MORC2	ORPHA:466768
HP:0002814	Abnormality of the lower limb	10073	SNUPN	OMIM:620793
HP:0002814	Abnormality of the lower limb	4625	MYH7	OMIM:160500
HP:0002814	Abnormality of the lower limb	215	ABCD1	ORPHA:139399
HP:0002814	Abnormality of the lower limb	10908	PNPLA6	OMIM:612020
HP:0002814	Abnormality of the lower limb	7170	TPM3	OMIM:609284
HP:0002814	Abnormality of the lower limb	64856	VWA1	OMIM:619216
HP:0002814	Abnormality of the lower limb	4547	MTTP	ORPHA:14
HP:0002814	Abnormality of the lower limb	2705	GJB1	OMIM:302800
HP:0002814	Abnormality of the lower limb	7453	WARS1	OMIM:617721
HP:0002814	Abnormality of the lower limb	55526	DHTKD1	OMIM:615025
HP:0002814	Abnormality of the lower limb	9131	AIFM1	OMIM:310490
HP:0002814	Abnormality of the lower limb	121512	FGD4	OMIM:609311
HP:0002814	Abnormality of the lower limb	353116	RILPL1	ORPHA:98897
HP:0002814	Abnormality of the lower limb	10755	GIPC1	ORPHA:98897
HP:0002814	Abnormality of the lower limb	29967	LRP12	ORPHA:98897
HP:0002814	Abnormality of the lower limb	100996717	NOTCH2NLC	ORPHA:98897
HP:0002814	Abnormality of the lower limb	203859	ANO5	ORPHA:399096
HP:0002814	Abnormality of the lower limb	203859	ANO5	OMIM:613319
HP:0002814	Abnormality of the lower limb	203859	ANO5	ORPHA:206549
HP:0002814	Abnormality of the lower limb	23259	DDHD2	OMIM:615033
HP:0002814	Abnormality of the lower limb	8988	HSPB3	OMIM:613376
HP:0002814	Abnormality of the lower limb	400916	CHCHD10	ORPHA:457050
HP:0002814	Abnormality of the lower limb	400916	CHCHD10	ORPHA:276435
HP:0002814	Abnormality of the lower limb	9990	SLC12A6	OMIM:620068
HP:0002814	Abnormality of the lower limb	6305	SBF1	OMIM:615284
HP:0002814	Abnormality of the lower limb	5375	PMP2	OMIM:618279
HP:0002814	Abnormality of the lower limb	10516	FBLN5	OMIM:619764
HP:0002814	Abnormality of the lower limb	60482	SLC5A7	ORPHA:98914
HP:0002814	Abnormality of the lower limb	1305	COL13A1	ORPHA:98914
HP:0002814	Abnormality of the lower limb	1103	CHAT	ORPHA:98914
HP:0002814	Abnormality of the lower limb	6576	SLC25A1	ORPHA:98914
HP:0002814	Abnormality of the lower limb	6843	VAMP1	ORPHA:98914
HP:0002814	Abnormality of the lower limb	375790	AGRN	ORPHA:98914
HP:0002814	Abnormality of the lower limb	127833	SYT2	ORPHA:98914
HP:0002814	Abnormality of the lower limb	6572	SLC18A3	ORPHA:98914
HP:0002814	Abnormality of the lower limb	6616	SNAP25	ORPHA:98914
HP:0002814	Abnormality of the lower limb	7428	VHL	ORPHA:892
HP:0002814	Abnormality of the lower limb	595	CCND1	ORPHA:892
HP:0002814	Abnormality of the lower limb	11117	EMILIN1	OMIM:620080
HP:0002814	Abnormality of the lower limb	10229	COQ7	OMIM:620402
HP:0002814	Abnormality of the lower limb	57410	SCYL1	ORPHA:466794
HP:0002814	Abnormality of the lower limb	126129	CPT1C	ORPHA:444099
HP:0002814	Abnormality of the lower limb	23676	SMPX	OMIM:301075
HP:0002814	Abnormality of the lower limb	59345	GNB4	OMIM:615185
HP:0002814	Abnormality of the lower limb	29925	GMPPB	ORPHA:363623
HP:0002814	Abnormality of the lower limb	8291	DYSF	ORPHA:45448
HP:0002814	Abnormality of the lower limb	4359	MPZ	OMIM:145900
HP:0002814	Abnormality of the lower limb	1959	EGR2	OMIM:145900
HP:0002814	Abnormality of the lower limb	57716	PRX	OMIM:145900
HP:0002814	Abnormality of the lower limb	55149	MTPAP	OMIM:613672
HP:0002814	Abnormality of the lower limb	4323	MMP14	ORPHA:371428
HP:0002814	Abnormality of the lower limb	1147	CHUK	OMIM:613630
HP:0002814	Abnormality of the lower limb	1009	CDH11	ORPHA:1299
HP:0002814	Abnormality of the lower limb	6477	SIAH1	OMIM:619314
HP:0002814	Abnormality of the lower limb	5518	PPP2R1A	OMIM:616362
HP:0002814	Abnormality of the lower limb	5518	PPP2R1A	ORPHA:457284
HP:0002814	Abnormality of the lower limb	4329	ALDH6A1	OMIM:614105
HP:0002814	Abnormality of the lower limb	84720	PIGO	OMIM:614749
HP:0002814	Abnormality of the lower limb	1457	CSNK2A1	OMIM:617062
HP:0002814	Abnormality of the lower limb	28952	CCDC22	OMIM:300963
HP:0002814	Abnormality of the lower limb	137814	NKX2-6	OMIM:217095
HP:0002814	Abnormality of the lower limb	285362	SUMF1	ORPHA:585
HP:0002814	Abnormality of the lower limb	79989	IFT56	OMIM:619534
HP:0002814	Abnormality of the lower limb	3209	HOXA13	OMIM:140000
HP:0002814	Abnormality of the lower limb	3209	HOXA13	ORPHA:2438
HP:0002814	Abnormality of the lower limb	57020	VPS35L	OMIM:619135
HP:0002814	Abnormality of the lower limb	4256	MGP	OMIM:245150
HP:0002814	Abnormality of the lower limb	415	ARSL	ORPHA:79345
HP:0002814	Abnormality of the lower limb	657	BMPR1A	ORPHA:79076
HP:0002814	Abnormality of the lower limb	6792	CDKL5	ORPHA:1934
HP:0002814	Abnormality of the lower limb	3736	KCNA1	ORPHA:1934
HP:0002814	Abnormality of the lower limb	9091	PIGQ	ORPHA:1934
HP:0002814	Abnormality of the lower limb	140679	SLC32A1	ORPHA:1934
HP:0002814	Abnormality of the lower limb	2775	GNAO1	ORPHA:1934
HP:0002814	Abnormality of the lower limb	81603	TRIM8	ORPHA:1934
HP:0002814	Abnormality of the lower limb	2902	GRIN1	ORPHA:1934
HP:0002814	Abnormality of the lower limb	79751	SLC25A22	ORPHA:1934
HP:0002814	Abnormality of the lower limb	150094	SIK1	ORPHA:1934
HP:0002814	Abnormality of the lower limb	8573	CASK	ORPHA:1934
HP:0002814	Abnormality of the lower limb	2917	GRM7	ORPHA:1934
HP:0002814	Abnormality of the lower limb	51227	PIGP	ORPHA:1934
HP:0002814	Abnormality of the lower limb	4761	NEUROD2	ORPHA:1934
HP:0002814	Abnormality of the lower limb	10269	ZMPSTE24	ORPHA:1662
HP:0002814	Abnormality of the lower limb	158326	FREM1	ORPHA:217266
HP:0002814	Abnormality of the lower limb	55835	CPAP	OMIM:613676
HP:0002814	Abnormality of the lower limb	7473	WNT3	ORPHA:3301
HP:0002814	Abnormality of the lower limb	340419	RSPO2	ORPHA:3301
HP:0002814	Abnormality of the lower limb	5979	RET	ORPHA:1848
HP:0002814	Abnormality of the lower limb	8516	ITGA8	ORPHA:1848
HP:0002814	Abnormality of the lower limb	26281	FGF20	ORPHA:1848
HP:0002814	Abnormality of the lower limb	2674	GFRA1	ORPHA:1848
HP:0002814	Abnormality of the lower limb	7484	WNT9B	ORPHA:1848
HP:0002814	Abnormality of the lower limb	80000	GREB1L	ORPHA:1848
HP:0002814	Abnormality of the lower limb	526	ATP6V1B2	ORPHA:79500
HP:0002814	Abnormality of the lower limb	57465	TBC1D24	ORPHA:79500
HP:0002814	Abnormality of the lower limb	207	AKT1	ORPHA:744
HP:0002814	Abnormality of the lower limb	7337	UBE3A	ORPHA:98794
HP:0002814	Abnormality of the lower limb	23483	TGDS	ORPHA:1388
HP:0002814	Abnormality of the lower limb	148789	B3GALNT2	ORPHA:899
HP:0002814	Abnormality of the lower limb	1282	COL4A1	ORPHA:899
HP:0002814	Abnormality of the lower limb	10329	RXYLT1	ORPHA:899
HP:0002814	Abnormality of the lower limb	11041	B4GAT1	ORPHA:899
HP:0002814	Abnormality of the lower limb	6611	SMS	ORPHA:3063
HP:0002814	Abnormality of the lower limb	57459	GATAD2B	OMIM:615074
HP:0002814	Abnormality of the lower limb	57459	GATAD2B	ORPHA:363686
HP:0002814	Abnormality of the lower limb	10265	IRX5	OMIM:611174
HP:0002814	Abnormality of the lower limb	51520	LARS1	OMIM:615438
HP:0002814	Abnormality of the lower limb	50814	NSDHL	ORPHA:251383
HP:0002814	Abnormality of the lower limb	60676	PAPPA2	OMIM:619489
HP:0002814	Abnormality of the lower limb	388015	RTL1	ORPHA:254528
HP:0002814	Abnormality of the lower limb	8788	DLK1	ORPHA:254528
HP:0002814	Abnormality of the lower limb	55384	MEG3	ORPHA:254528
HP:0002814	Abnormality of the lower limb	9772	TMEM94	OMIM:618316
HP:0002814	Abnormality of the lower limb	6910	TBX5	OMIM:142900
HP:0002814	Abnormality of the lower limb	60561	RINT1	OMIM:618641
HP:0002814	Abnormality of the lower limb	3313	HSPA9	OMIM:616854
HP:0002814	Abnormality of the lower limb	5727	PTCH1	ORPHA:77301
HP:0002814	Abnormality of the lower limb	5727	PTCH1	ORPHA:377
HP:0002814	Abnormality of the lower limb	5727	PTCH1	OMIM:109400
HP:0002814	Abnormality of the lower limb	8643	PTCH2	ORPHA:377
HP:0002814	Abnormality of the lower limb	488	ATP2A2	ORPHA:218
HP:0002814	Abnormality of the lower limb	488	ATP2A2	OMIM:124200
HP:0002814	Abnormality of the lower limb	64116	SLC39A8	ORPHA:468699
HP:0002814	Abnormality of the lower limb	56916	SMARCAD1	OMIM:129200
HP:0002814	Abnormality of the lower limb	1298	COL9A2	ORPHA:166002
HP:0002814	Abnormality of the lower limb	9690	UBE3C	OMIM:620270
HP:0002814	Abnormality of the lower limb	9321	TRIP11	OMIM:200600
HP:0002814	Abnormality of the lower limb	150468	CKAP2L	OMIM:272440
HP:0002814	Abnormality of the lower limb	7092	TLL1	ORPHA:99103
HP:0002814	Abnormality of the lower limb	57057	TBX20	ORPHA:99103
HP:0002814	Abnormality of the lower limb	4624	MYH6	ORPHA:99103
HP:0002814	Abnormality of the lower limb	1482	NKX2-5	ORPHA:99103
HP:0002814	Abnormality of the lower limb	70	ACTC1	ORPHA:99103
HP:0002814	Abnormality of the lower limb	10370	CITED2	ORPHA:99103
HP:0002814	Abnormality of the lower limb	2626	GATA4	ORPHA:99103
HP:0002814	Abnormality of the lower limb	2627	GATA6	ORPHA:99103
HP:0002814	Abnormality of the lower limb	8195	MKKS	OMIM:236700
HP:0002814	Abnormality of the lower limb	2335	FN1	ORPHA:84090
HP:0002814	Abnormality of the lower limb	64324	NSD1	ORPHA:821
HP:0002814	Abnormality of the lower limb	10297	APC2	ORPHA:821
HP:0002814	Abnormality of the lower limb	4210	MEFV	ORPHA:342
HP:0002814	Abnormality of the lower limb	213	ALB	ORPHA:86816
HP:0002814	Abnormality of the lower limb	7075	TIE1	OMIM:619401
HP:0002814	Abnormality of the lower limb	130340	AP1S3	ORPHA:247353
HP:0002814	Abnormality of the lower limb	26525	IL36RN	ORPHA:247353
HP:0002814	Abnormality of the lower limb	9158	FIBP	OMIM:617107
HP:0002814	Abnormality of the lower limb	11231	SEC63	ORPHA:2924
HP:0002814	Abnormality of the lower limb	5589	PRKCSH	ORPHA:2924
HP:0002814	Abnormality of the lower limb	4041	LRP5	ORPHA:2924
HP:0002814	Abnormality of the lower limb	5573	PRKAR1A	ORPHA:615
HP:0002814	Abnormality of the lower limb	3662	IRF4	ORPHA:3452
HP:0002814	Abnormality of the lower limb	2324	FLT4	ORPHA:79452
HP:0002814	Abnormality of the lower limb	9780	PIEZO1	ORPHA:79452
HP:0002814	Abnormality of the lower limb	285	ANGPT2	ORPHA:79452
HP:0002814	Abnormality of the lower limb	57165	GJC2	ORPHA:79452
HP:0002814	Abnormality of the lower limb	540	ATP7B	OMIM:277900
HP:0002814	Abnormality of the lower limb	6638	SNRPN	ORPHA:98754
HP:0002814	Abnormality of the lower limb	6638	SNRPN	ORPHA:177904
HP:0002814	Abnormality of the lower limb	6638	SNRPN	ORPHA:177901
HP:0002814	Abnormality of the lower limb	4692	NDN	ORPHA:98754
HP:0002814	Abnormality of the lower limb	4692	NDN	ORPHA:177904
HP:0002814	Abnormality of the lower limb	4692	NDN	ORPHA:177901
HP:0002814	Abnormality of the lower limb	54551	MAGEL2	ORPHA:98754
HP:0002814	Abnormality of the lower limb	54551	MAGEL2	ORPHA:177904
HP:0002814	Abnormality of the lower limb	54551	MAGEL2	ORPHA:177901
HP:0002814	Abnormality of the lower limb	4948	OCA2	ORPHA:98754
HP:0002814	Abnormality of the lower limb	4948	OCA2	ORPHA:177904
HP:0002814	Abnormality of the lower limb	4948	OCA2	ORPHA:177901
HP:0002814	Abnormality of the lower limb	84196	USP48	ORPHA:96253
HP:0002814	Abnormality of the lower limb	7157	TP53	ORPHA:96253
HP:0002814	Abnormality of the lower limb	9101	USP8	ORPHA:96253
HP:0002814	Abnormality of the lower limb	64072	CDH23	ORPHA:96253
HP:0002814	Abnormality of the lower limb	2908	NR3C1	ORPHA:96253
HP:0002814	Abnormality of the lower limb	673	BRAF	ORPHA:96253
HP:0002814	Abnormality of the lower limb	546	ATRX	ORPHA:96253
HP:0002814	Abnormality of the lower limb	84231	TRAF7	OMIM:618164
HP:0002814	Abnormality of the lower limb	6335	SCN9A	ORPHA:90026
HP:0002814	Abnormality of the lower limb	11280	SCN11A	ORPHA:90026
HP:0002814	Abnormality of the lower limb	6336	SCN10A	ORPHA:90026
HP:0002814	Abnormality of the lower limb	9326	ZNHIT3	ORPHA:2836
HP:0002814	Abnormality of the lower limb	2050	EPHB4	ORPHA:90186
HP:0002814	Abnormality of the lower limb	4615	MYD88	ORPHA:33226
HP:0002814	Abnormality of the lower limb	440275	EIF2AK4	ORPHA:199241
HP:0002814	Abnormality of the lower limb	8517	IKBKG	ORPHA:98813
HP:0002814	Abnormality of the lower limb	4792	NFKBIA	ORPHA:98813
HP:0002814	Abnormality of the lower limb	7424	VEGFC	OMIM:615907
HP:0002814	Abnormality of the lower limb	25839	COG4	OMIM:618150
HP:0002814	Abnormality of the lower limb	5744	PTHLH	OMIM:613382
HP:0002814	Abnormality of the lower limb	5744	PTHLH	ORPHA:93387
HP:0002814	Abnormality of the lower limb	54496	PRMT7	OMIM:617157
HP:0002814	Abnormality of the lower limb	4534	MTM1	OMIM:310400
HP:0002814	Abnormality of the lower limb	4953	ODC1	ORPHA:544488
HP:0002814	Abnormality of the lower limb	85465	SELENOI	ORPHA:506353
HP:0002814	Abnormality of the lower limb	85465	SELENOI	OMIM:618768
HP:0002814	Abnormality of the lower limb	4728	NDUFS8	OMIM:618222
HP:0002814	Abnormality of the lower limb	51604	PIGT	OMIM:615398
HP:0002814	Abnormality of the lower limb	22931	RAB18	OMIM:614222
HP:0002814	Abnormality of the lower limb	2653	GCSH	OMIM:620423
HP:0002814	Abnormality of the lower limb	51117	COQ4	OMIM:620666
HP:0002814	Abnormality of the lower limb	959	CD40LG	OMIM:308230
HP:0002814	Abnormality of the lower limb	440193	CCDC88C	OMIM:616053
HP:0002814	Abnormality of the lower limb	10273	STUB1	OMIM:615768
HP:0002814	Abnormality of the lower limb	10273	STUB1	ORPHA:412057
HP:0002814	Abnormality of the lower limb	9409	PEX16	OMIM:614877
HP:0002814	Abnormality of the lower limb	9338	TCEAL1	OMIM:301094
HP:0002814	Abnormality of the lower limb	9289	ADGRG1	OMIM:606854
HP:0002814	Abnormality of the lower limb	1678	TIMM8A	ORPHA:52368
HP:0002814	Abnormality of the lower limb	6712	SPTBN2	OMIM:600224
HP:0002814	Abnormality of the lower limb	10749	KIF1C	OMIM:611302
HP:0002814	Abnormality of the lower limb	113278	SLC52A3	OMIM:211530
HP:0002814	Abnormality of the lower limb	9900	SV2A	OMIM:620772
HP:0002814	Abnormality of the lower limb	1757	SARDH	ORPHA:3129
HP:0002814	Abnormality of the lower limb	2218	FKTN	OMIM:611588
HP:0002814	Abnormality of the lower limb	2992	GYG1	OMIM:616199
HP:0002814	Abnormality of the lower limb	10079	ATP9A	OMIM:620242
HP:0002814	Abnormality of the lower limb	118924	FRA10AC1	OMIM:620113
HP:0002814	Abnormality of the lower limb	9373	PLAA	ORPHA:521426
HP:0002814	Abnormality of the lower limb	9373	PLAA	OMIM:617527
HP:0002814	Abnormality of the lower limb	7051	TGM1	ORPHA:281127
HP:0002814	Abnormality of the lower limb	11342	RNF13	ORPHA:544503
HP:0002814	Abnormality of the lower limb	9939	RBM8A	OMIM:274000
HP:0002814	Abnormality of the lower limb	23169	SLC35D1	ORPHA:3144
HP:0002814	Abnormality of the lower limb	26128	KIFBP	OMIM:609460
HP:0002814	Abnormality of the lower limb	2550	GABBR1	OMIM:620502
HP:0002814	Abnormality of the lower limb	8567	MADD	OMIM:619005
HP:0002814	Abnormality of the lower limb	83987	CCDC8	OMIM:614205
HP:0002814	Abnormality of the lower limb	84340	GFM2	ORPHA:565624
HP:0002814	Abnormality of the lower limb	23363	OBSL1	OMIM:612921
HP:0002814	Abnormality of the lower limb	7486	WRN	OMIM:277700
HP:0002814	Abnormality of the lower limb	9365	KL	OMIM:617994
HP:0002814	Abnormality of the lower limb	57187	THOC2	OMIM:300957
HP:0002814	Abnormality of the lower limb	55628	ZNF407	OMIM:619557
HP:0002814	Abnormality of the lower limb	51608	GET4	OMIM:620200
HP:0002814	Abnormality of the lower limb	28962	OSTM1	OMIM:259720
HP:0002814	Abnormality of the lower limb	27125	AFF4	ORPHA:444077
HP:0002814	Abnormality of the lower limb	51112	TRAPPC12	ORPHA:500144
HP:0002814	Abnormality of the lower limb	29998	BICRA	OMIM:619325
HP:0002814	Abnormality of the lower limb	202018	TAPT1	OMIM:616897
HP:0002814	Abnormality of the lower limb	221496	LEMD2	OMIM:619322
HP:0002814	Abnormality of the lower limb	773	CACNA1A	ORPHA:2131
HP:0002814	Abnormality of the lower limb	6507	SLC1A3	ORPHA:2131
HP:0002814	Abnormality of the lower limb	477	ATP1A2	ORPHA:2131
HP:0002814	Abnormality of the lower limb	10625	IVNS1ABP	OMIM:618969
HP:0002814	Abnormality of the lower limb	920	CD4	OMIM:619238
HP:0002814	Abnormality of the lower limb	811	CALR	ORPHA:131
HP:0002814	Abnormality of the lower limb	3717	JAK2	ORPHA:131
HP:0002814	Abnormality of the lower limb	2153	F5	ORPHA:131
HP:0002814	Abnormality of the lower limb	1353	COX11	OMIM:620275
HP:0002814	Abnormality of the lower limb	6263	RYR3	OMIM:620310
HP:0002814	Abnormality of the lower limb	57282	SLC4A10	OMIM:620746
HP:0002814	Abnormality of the lower limb	57731	SPTBN4	OMIM:617519
HP:0002814	Abnormality of the lower limb	3181	HNRNPA2B1	OMIM:620460
HP:0002814	Abnormality of the lower limb	2131	EXT1	ORPHA:321
HP:0002814	Abnormality of the lower limb	2132	EXT2	ORPHA:321
HP:0002814	Abnormality of the lower limb	85459	CEP295	OMIM:620767
HP:0002814	Abnormality of the lower limb	6597	SMARCA4	OMIM:614609
HP:0002814	Abnormality of the lower limb	2261	FGFR3	ORPHA:85164
HP:0002814	Abnormality of the lower limb	4914	NTRK1	ORPHA:642
HP:0002814	Abnormality of the lower limb	23314	SATB2	ORPHA:576283
HP:0002814	Abnormality of the lower limb	5290	PIK3CA	OMIM:612918
HP:0002814	Abnormality of the lower limb	5290	PIK3CA	ORPHA:314662
HP:0002814	Abnormality of the lower limb	5290	PIK3CA	ORPHA:140944
HP:0002814	Abnormality of the lower limb	5290	PIK3CA	ORPHA:90308
HP:0002814	Abnormality of the lower limb	5745	PTH1R	ORPHA:296
HP:0002814	Abnormality of the lower limb	3418	IDH2	ORPHA:296
HP:0002814	Abnormality of the lower limb	3417	IDH1	ORPHA:296
HP:0002814	Abnormality of the lower limb	64840	PORCN	ORPHA:2092
HP:0002814	Abnormality of the lower limb	7994	KAT6A	OMIM:616268
HP:0002814	Abnormality of the lower limb	4358	MPV17	OMIM:256810
HP:0002814	Abnormality of the lower limb	60	ACTB	ORPHA:64755
HP:0002814	Abnormality of the lower limb	55109	AGGF1	ORPHA:90308
HP:0002814	Abnormality of the lower limb	5590	PRKCZ	ORPHA:1606
HP:0002814	Abnormality of the lower limb	2563	GABRD	ORPHA:1606
HP:0002814	Abnormality of the lower limb	23013	SPEN	ORPHA:1606
HP:0002814	Abnormality of the lower limb	8510	MMP23B	ORPHA:1606
HP:0002814	Abnormality of the lower limb	7798	LUZP1	ORPHA:1606
HP:0002814	Abnormality of the lower limb	6497	SKI	ORPHA:1606
HP:0002814	Abnormality of the lower limb	10630	PDPN	ORPHA:1606
HP:0002814	Abnormality of the lower limb	3339	HSPG2	ORPHA:1606
HP:0002814	Abnormality of the lower limb	10277	UBE4B	ORPHA:1606
HP:0002814	Abnormality of the lower limb	8514	KCNAB2	ORPHA:1606
HP:0002814	Abnormality of the lower limb	473	RERE	ORPHA:1606
HP:0002814	Abnormality of the lower limb	63976	PRDM16	ORPHA:1606
HP:0002814	Abnormality of the lower limb	54897	CASZ1	ORPHA:1606
HP:0002814	Abnormality of the lower limb	4796	TONSL	ORPHA:93357
HP:0002814	Abnormality of the lower limb	55209	SETD5	ORPHA:404440
HP:0002814	Abnormality of the lower limb	55209	SETD5	OMIM:615761
HP:0002814	Abnormality of the lower limb	1513	CTSK	ORPHA:763
HP:0002814	Abnormality of the lower limb	2887	GRB10	ORPHA:96182
HP:0002814	Abnormality of the lower limb	3481	IGF2	ORPHA:231140
HP:0002814	Abnormality of the lower limb	283120	H19	ORPHA:231140
HP:0002814	Abnormality of the lower limb	3845	KRAS	OMIM:600268
HP:0002814	Abnormality of the lower limb	8239	USP9X	OMIM:300968
HP:0002814	Abnormality of the lower limb	5594	MAPK1	OMIM:619087
HP:0002814	Abnormality of the lower limb	10682	EBP	ORPHA:35173
HP:0002814	Abnormality of the lower limb	3110	MNX1	ORPHA:1552
HP:0002814	Abnormality of the lower limb	203068	TUBB	ORPHA:2505
HP:0002814	Abnormality of the lower limb	10982	MAPRE2	ORPHA:2505
HP:0002814	Abnormality of the lower limb	5728	PTEN	ORPHA:2969
HP:0002814	Abnormality of the lower limb	5728	PTEN	ORPHA:137608
HP:0002814	Abnormality of the lower limb	23592	LEMD3	OMIM:166700
HP:0002814	Abnormality of the lower limb	1656	DDX6	OMIM:618653
HP:0002814	Abnormality of the lower limb	79651	RHBDF2	ORPHA:2198
HP:0002814	Abnormality of the lower limb	8720	MBTPS1	OMIM:618392
HP:0002814	Abnormality of the lower limb	54345	SOX18	ORPHA:69735
HP:0002814	Abnormality of the lower limb	5238	PGM3	ORPHA:443811
HP:0002815	Abnormality of the knee	6335	SCN9A	ORPHA:970
HP:0002815	Abnormality of the knee	65125	WNK1	ORPHA:970
HP:0002815	Abnormality of the knee	54463	RETREG1	ORPHA:970
HP:0002815	Abnormality of the knee	547	KIF1A	ORPHA:970
HP:0002815	Abnormality of the knee	427	ASAH1	ORPHA:333
HP:0002815	Abnormality of the knee	5167	ENPP1	ORPHA:51608
HP:0002815	Abnormality of the knee	368	ABCC6	ORPHA:51608
HP:0002815	Abnormality of the knee	89970	RSPRY1	ORPHA:457395
HP:0002815	Abnormality of the knee	3852	KRT5	ORPHA:158681
HP:0002815	Abnormality of the knee	4010	LMX1B	ORPHA:2614
HP:0002815	Abnormality of the knee	1280	COL2A1	ORPHA:93316
HP:0002815	Abnormality of the knee	23314	SATB2	ORPHA:251028
HP:0002815	Abnormality of the knee	3248	HPGD	ORPHA:1525
HP:0002815	Abnormality of the knee	2131	EXT1	ORPHA:321
HP:0002815	Abnormality of the knee	2132	EXT2	ORPHA:321
HP:0002815	Abnormality of the knee	9496	TBX4	ORPHA:1509
HP:0002815	Abnormality of the knee	4210	MEFV	ORPHA:329967
HP:0002815	Abnormality of the knee	7132	TNFRSF1A	ORPHA:329967
HP:0002815	Abnormality of the knee	1294	COL7A1	ORPHA:158673
HP:0002815	Abnormality of the knee	8838	CCN6	ORPHA:1159
HP:0002815	Abnormality of the knee	1297	COL9A1	OMIM:614135
HP:0002815	Abnormality of the knee	1297	COL9A1	ORPHA:166002
HP:0002815	Abnormality of the knee	8292	COLQ	ORPHA:98915
HP:0002815	Abnormality of the knee	3913	LAMB2	ORPHA:98915
HP:0002815	Abnormality of the knee	23204	ARL6IP1	ORPHA:401780
HP:0002815	Abnormality of the knee	1298	COL9A2	ORPHA:166002
HP:0002815	Abnormality of the knee	1299	COL9A3	ORPHA:166002
HP:0002815	Abnormality of the knee	10717	AP4B1	ORPHA:280763
HP:0002815	Abnormality of the knee	10717	AP4B1	OMIM:614066
HP:0002815	Abnormality of the knee	9179	AP4M1	ORPHA:280763
HP:0002815	Abnormality of the knee	11154	AP4S1	ORPHA:280763
HP:0002815	Abnormality of the knee	23431	AP4E1	ORPHA:280763
HP:0002815	Abnormality of the knee	11285	B4GALT7	OMIM:130070
HP:0002815	Abnormality of the knee	4123	MAN2C1	OMIM:619775
HP:0002815	Abnormality of the knee	2892	GRIA3	ORPHA:364028
HP:0002815	Abnormality of the knee	3265	HRAS	ORPHA:2612
HP:0002815	Abnormality of the knee	4893	NRAS	ORPHA:2612
HP:0002815	Abnormality of the knee	57479	PRR12	OMIM:619539
HP:0002815	Abnormality of the knee	10516	FBLN5	ORPHA:90348
HP:0002815	Abnormality of the knee	5832	ALDH18A1	ORPHA:90348
HP:0002815	Abnormality of the knee	10973	ASCC3	OMIM:620700
HP:0002815	Abnormality of the knee	285590	SH3PXD2B	ORPHA:137834
HP:0002815	Abnormality of the knee	8936	WASF1	OMIM:618707
HP:0002815	Abnormality of the knee	9150	CTDP1	OMIM:604168
HP:0002815	Abnormality of the knee	6536	SLC6A9	OMIM:617301
HP:0002815	Abnormality of the knee	5728	PTEN	ORPHA:2969
HP:0002815	Abnormality of the knee	2245	FGD1	ORPHA:915
HP:0002815	Abnormality of the knee	81620	CDT1	OMIM:613804
HP:0002815	Abnormality of the knee	57192	MCOLN1	ORPHA:578
HP:0002815	Abnormality of the knee	203859	ANO5	ORPHA:206549
HP:0002815	Abnormality of the knee	1497	CTNS	OMIM:219800
HP:0002815	Abnormality of the knee	875	CBS	ORPHA:394
HP:0002815	Abnormality of the knee	7421	VDR	ORPHA:93160
HP:0002815	Abnormality of the knee	51256	TBC1D7	OMIM:248000
HP:0002815	Abnormality of the knee	2972	BRF1	OMIM:616202
HP:0002815	Abnormality of the knee	652	BMP4	ORPHA:828
HP:0002815	Abnormality of the knee	7360	UGP2	OMIM:618744
HP:0002815	Abnormality of the knee	10992	SF3B2	OMIM:164210
HP:0002815	Abnormality of the knee	538	ATP7A	OMIM:304150
HP:0002815	Abnormality of the knee	538	ATP7A	ORPHA:198
HP:0002815	Abnormality of the knee	1836	SLC26A2	ORPHA:56304
HP:0002815	Abnormality of the knee	1836	SLC26A2	ORPHA:93307
HP:0002815	Abnormality of the knee	1836	SLC26A2	ORPHA:628
HP:0002815	Abnormality of the knee	1836	SLC26A2	OMIM:222600
HP:0002815	Abnormality of the knee	4125	MAN2B1	ORPHA:309282
HP:0002815	Abnormality of the knee	58	ACTA1	ORPHA:171436
HP:0002815	Abnormality of the knee	7169	TPM2	ORPHA:171436
HP:0002815	Abnormality of the knee	4703	NEB	ORPHA:171436
HP:0002815	Abnormality of the knee	10324	KLHL41	ORPHA:171436
HP:0002815	Abnormality of the knee	56203	LMOD3	ORPHA:171436
HP:0002815	Abnormality of the knee	1073	CFL2	ORPHA:171436
HP:0002815	Abnormality of the knee	1278	COL1A2	ORPHA:230851
HP:0002815	Abnormality of the knee	3021	H3-3B	OMIM:619721
HP:0002815	Abnormality of the knee	55790	CSGALNACT1	OMIM:618870
HP:0002815	Abnormality of the knee	23322	RPGRIP1L	OMIM:611560
HP:0002815	Abnormality of the knee	176	ACAN	OMIM:608361
HP:0002815	Abnormality of the knee	10686	CLDN16	OMIM:248250
HP:0002815	Abnormality of the knee	54681	P4HTM	ORPHA:436141
HP:0002815	Abnormality of the knee	54681	P4HTM	OMIM:618493
HP:0002815	Abnormality of the knee	84572	GNPTG	OMIM:252605
HP:0002815	Abnormality of the knee	5745	PTH1R	ORPHA:296
HP:0002815	Abnormality of the knee	3418	IDH2	ORPHA:296
HP:0002815	Abnormality of the knee	3417	IDH1	ORPHA:296
HP:0002815	Abnormality of the knee	64324	NSD1	OMIM:117550
HP:0002815	Abnormality of the knee	7040	TGFB1	OMIM:131300
HP:0002815	Abnormality of the knee	7040	TGFB1	ORPHA:1328
HP:0002815	Abnormality of the knee	9469	CHST3	OMIM:143095
HP:0002815	Abnormality of the knee	9469	CHST3	ORPHA:263463
HP:0002815	Abnormality of the knee	9469	CHST3	OMIM:245600
HP:0002815	Abnormality of the knee	54880	BCOR	ORPHA:2712
HP:0002815	Abnormality of the knee	815	CAMK2A	OMIM:617798
HP:0002815	Abnormality of the knee	4853	NOTCH2	OMIM:102500
HP:0002815	Abnormality of the knee	10381	TUBB3	ORPHA:300570
HP:0002815	Abnormality of the knee	55699	IARS2	ORPHA:436174
HP:0002815	Abnormality of the knee	55699	IARS2	OMIM:616007
HP:0002815	Abnormality of the knee	83480	PUS3	ORPHA:488627
HP:0002815	Abnormality of the knee	157680	VPS13B	OMIM:216550
HP:0002815	Abnormality of the knee	157680	VPS13B	ORPHA:193
HP:0002815	Abnormality of the knee	5566	PRKACA	ORPHA:289
HP:0002815	Abnormality of the knee	5566	PRKACA	OMIM:619142
HP:0002815	Abnormality of the knee	5567	PRKACB	ORPHA:289
HP:0002815	Abnormality of the knee	5567	PRKACB	OMIM:619143
HP:0002815	Abnormality of the knee	2735	GLI1	ORPHA:289
HP:0002815	Abnormality of the knee	2735	GLI1	OMIM:618123
HP:0002815	Abnormality of the knee	2121	EVC	ORPHA:289
HP:0002815	Abnormality of the knee	2121	EVC	OMIM:225500
HP:0002815	Abnormality of the knee	51626	DYNC2LI1	ORPHA:289
HP:0002815	Abnormality of the knee	132884	EVC2	ORPHA:289
HP:0002815	Abnormality of the knee	132884	EVC2	OMIM:225500
HP:0002815	Abnormality of the knee	9839	ZEB2	ORPHA:261552
HP:0002815	Abnormality of the knee	9839	ZEB2	ORPHA:261537
HP:0002815	Abnormality of the knee	4763	NF1	ORPHA:363700
HP:0002815	Abnormality of the knee	4763	NF1	OMIM:162200
HP:0002815	Abnormality of the knee	1311	COMP	OMIM:132400
HP:0002815	Abnormality of the knee	1311	COMP	OMIM:177170
HP:0002815	Abnormality of the knee	1311	COMP	ORPHA:93308
HP:0002815	Abnormality of the knee	1311	COMP	ORPHA:750
HP:0002815	Abnormality of the knee	2720	GLB1	OMIM:253010
HP:0002815	Abnormality of the knee	3425	IDUA	OMIM:607016
HP:0002815	Abnormality of the knee	374654	KIF7	OMIM:607131
HP:0002815	Abnormality of the knee	374654	KIF7	ORPHA:166024
HP:0002815	Abnormality of the knee	5376	PMP22	ORPHA:3115
HP:0002815	Abnormality of the knee	4359	MPZ	ORPHA:3115
HP:0002815	Abnormality of the knee	1588	CYP19A1	ORPHA:91
HP:0002815	Abnormality of the knee	9653	HS2ST1	OMIM:619194
HP:0002815	Abnormality of the knee	5251	PHEX	ORPHA:89936
HP:0002815	Abnormality of the knee	5251	PHEX	OMIM:307800
HP:0002815	Abnormality of the knee	3043	HBB	ORPHA:231214
HP:0002815	Abnormality of the knee	3043	HBB	ORPHA:231226
HP:0002815	Abnormality of the knee	6804	STX1A	ORPHA:904
HP:0002815	Abnormality of the knee	7461	CLIP2	ORPHA:904
HP:0002815	Abnormality of the knee	84277	DNAJC30	ORPHA:904
HP:0002815	Abnormality of the knee	8468	FKBP6	ORPHA:904
HP:0002815	Abnormality of the knee	5982	RFC2	ORPHA:904
HP:0002815	Abnormality of the knee	2969	GTF2I	ORPHA:904
HP:0002815	Abnormality of the knee	3984	LIMK1	ORPHA:904
HP:0002815	Abnormality of the knee	9569	GTF2IRD1	ORPHA:904
HP:0002815	Abnormality of the knee	155382	VPS37D	ORPHA:904
HP:0002815	Abnormality of the knee	155368	METTL27	ORPHA:904
HP:0002815	Abnormality of the knee	114049	BUD23	ORPHA:904
HP:0002815	Abnormality of the knee	7458	EIF4H	ORPHA:904
HP:0002815	Abnormality of the knee	84163	GTF2IRD2	ORPHA:904
HP:0002815	Abnormality of the knee	26608	TBL2	ORPHA:904
HP:0002815	Abnormality of the knee	653361	NCF1	ORPHA:904
HP:0002815	Abnormality of the knee	135886	TMEM270	ORPHA:904
HP:0002815	Abnormality of the knee	9031	BAZ1B	ORPHA:904
HP:0002815	Abnormality of the knee	2006	ELN	ORPHA:904
HP:0002815	Abnormality of the knee	5593	PRKG2	OMIM:619636
HP:0002815	Abnormality of the knee	4952	OCRL	OMIM:309000
HP:0002815	Abnormality of the knee	4952	OCRL	ORPHA:534
HP:0002815	Abnormality of the knee	55027	HEATR3	OMIM:620072
HP:0002815	Abnormality of the knee	26137	ZBTB20	OMIM:259050
HP:0002815	Abnormality of the knee	54928	BPNT2	OMIM:614078
HP:0002815	Abnormality of the knee	23187	PHLDB1	OMIM:620639
HP:0002815	Abnormality of the knee	6473	SHOX	ORPHA:314795
HP:0002815	Abnormality of the knee	6473	SHOX	ORPHA:240
HP:0002815	Abnormality of the knee	3835	KIF22	OMIM:603546
HP:0002815	Abnormality of the knee	3835	KIF22	ORPHA:93360
HP:0002815	Abnormality of the knee	7030	TFE3	OMIM:301066
HP:0002815	Abnormality of the knee	23162	MAPK8IP3	OMIM:618443
HP:0002815	Abnormality of the knee	9394	HS6ST1	OMIM:614880
HP:0002815	Abnormality of the knee	23483	TGDS	OMIM:616145
HP:0002815	Abnormality of the knee	3977	LIFR	ORPHA:3206
HP:0002815	Abnormality of the knee	546	ATRX	OMIM:309580
HP:0002815	Abnormality of the knee	7994	KAT6A	OMIM:616268
HP:0002815	Abnormality of the knee	3339	HSPG2	ORPHA:800
HP:0002815	Abnormality of the knee	1186	CLCN7	ORPHA:53
HP:0002815	Abnormality of the knee	2316	FLNA	OMIM:309350
HP:0002815	Abnormality of the knee	2316	FLNA	OMIM:305620
HP:0002815	Abnormality of the knee	10664	CTCF	OMIM:615502
HP:0002815	Abnormality of the knee	2200	FBN1	ORPHA:2462
HP:0002815	Abnormality of the knee	6497	SKI	ORPHA:2462
HP:0002815	Abnormality of the knee	6497	SKI	OMIM:182212
HP:0002815	Abnormality of the knee	55081	IFT57	OMIM:617927
HP:0002815	Abnormality of the knee	865	CBFB	OMIM:620099
HP:0002815	Abnormality of the knee	54808	DYM	ORPHA:239
HP:0002815	Abnormality of the knee	54808	DYM	OMIM:607326
HP:0002815	Abnormality of the knee	54808	DYM	OMIM:223800
HP:0002815	Abnormality of the knee	8600	TNFSF11	OMIM:259710
HP:0002815	Abnormality of the knee	9361	LONP1	OMIM:600373
HP:0002815	Abnormality of the knee	10466	COG5	ORPHA:263487
HP:0002815	Abnormality of the knee	579	NKX3-2	OMIM:613330
HP:0002815	Abnormality of the knee	26160	IFT172	OMIM:615630
HP:0002815	Abnormality of the knee	2335	FN1	ORPHA:93315
HP:0002815	Abnormality of the knee	23394	ADNP	OMIM:615873
HP:0002815	Abnormality of the knee	79903	NAA60	OMIM:620786
HP:0002815	Abnormality of the knee	100033413	SNORD116-1	OMIM:176270
HP:0002815	Abnormality of the knee	8924	HERC2	OMIM:176270
HP:0002815	Abnormality of the knee	23742	NPAP1	OMIM:176270
HP:0002815	Abnormality of the knee	338433	SNORD115-1	OMIM:176270
HP:0002815	Abnormality of the knee	54551	MAGEL2	OMIM:176270
HP:0002815	Abnormality of the knee	7681	MKRN3	OMIM:176270
HP:0002815	Abnormality of the knee	145624	PWAR1	OMIM:176270
HP:0002815	Abnormality of the knee	3653	IPW	OMIM:176270
HP:0002815	Abnormality of the knee	791114	PWRN1	OMIM:176270
HP:0002815	Abnormality of the knee	4148	MATN3	ORPHA:93311
HP:0002815	Abnormality of the knee	4148	MATN3	OMIM:607078
HP:0002815	Abnormality of the knee	411	ARSB	OMIM:253200
HP:0002815	Abnormality of the knee	59341	TRPV4	OMIM:156530
HP:0002815	Abnormality of the knee	59341	TRPV4	OMIM:168400
HP:0002815	Abnormality of the knee	59341	TRPV4	OMIM:184095
HP:0002815	Abnormality of the knee	91179	SCARF2	OMIM:600920
HP:0002815	Abnormality of the knee	8882	ZPR1	OMIM:619321
HP:0002815	Abnormality of the knee	137682	NDUFAF6	OMIM:618913
HP:0002815	Abnormality of the knee	55784	MCTP2	ORPHA:1596
HP:0002815	Abnormality of the knee	64135	IFIH1	OMIM:182250
HP:0002815	Abnormality of the knee	153642	ARSK	OMIM:619698
HP:0002815	Abnormality of the knee	4998	ORC1	OMIM:224690
HP:0002815	Abnormality of the knee	84068	SLC10A7	OMIM:618363
HP:0002815	Abnormality of the knee	5604	MAP2K1	ORPHA:1340
HP:0002815	Abnormality of the knee	5605	MAP2K2	ORPHA:1340
HP:0002815	Abnormality of the knee	3845	KRAS	ORPHA:1340
HP:0002815	Abnormality of the knee	673	BRAF	ORPHA:1340
HP:0002815	Abnormality of the knee	11145	PLAAT3	OMIM:620683
HP:0002815	Abnormality of the knee	23111	SPART	ORPHA:101000
HP:0002815	Abnormality of the knee	1301	COL11A1	ORPHA:560
HP:0002815	Abnormality of the knee	9451	EIF2AK3	OMIM:226980
HP:0002815	Abnormality of the knee	860	RUNX2	ORPHA:1452
HP:0002815	Abnormality of the knee	7476	WNT7A	OMIM:613005
HP:0002815	Abnormality of the knee	3930	LBR	OMIM:618019
HP:0002815	Abnormality of the knee	51715	RAB23	ORPHA:65759
HP:0002815	Abnormality of the knee	51715	RAB23	OMIM:201000
HP:0002815	Abnormality of the knee	1954	MEGF8	ORPHA:65759
HP:0002815	Abnormality of the knee	1300	COL10A1	OMIM:156500
HP:0002815	Abnormality of the knee	6424	SFRP4	OMIM:265900
HP:0002815	Abnormality of the knee	10526	IPO8	OMIM:619472
HP:0002815	Abnormality of the knee	6711	SPTBN1	OMIM:619475
HP:0002815	Abnormality of the knee	2588	GALNS	OMIM:253000
HP:0002815	Abnormality of the knee	80152	CENPT	OMIM:618702
HP:0002815	Abnormality of the knee	4796	TONSL	ORPHA:93357
HP:0002815	Abnormality of the knee	4796	TONSL	OMIM:271510
HP:0002815	Abnormality of the knee	5184	PEPD	ORPHA:742
HP:0002815	Abnormality of the knee	5885	RAD21	ORPHA:502
HP:0002815	Abnormality of the knee	7227	TRPS1	ORPHA:502
HP:0002815	Abnormality of the knee	374879	ZNF699	OMIM:619488
HP:0002815	Abnormality of the knee	10651	MTX2	OMIM:619127
HP:0002815	Abnormality of the knee	4322	MMP13	OMIM:250400
HP:0002815	Abnormality of the knee	126792	B3GALT6	OMIM:271640
HP:0002815	Abnormality of the knee	2990	GUSB	OMIM:253220
HP:0002815	Abnormality of the knee	8139	GAN	ORPHA:643
HP:0002815	Abnormality of the knee	26229	B3GAT3	OMIM:245600
HP:0002815	Abnormality of the knee	83452	RAB33B	OMIM:615222
HP:0002815	Abnormality of the knee	80169	CTC1	OMIM:612199
HP:0002815	Abnormality of the knee	25871	NEPRO	OMIM:618853
HP:0002815	Abnormality of the knee	871	SERPINH1	OMIM:613848
HP:0002815	Abnormality of the knee	1576	CYP3A4	OMIM:619073
HP:0002815	Abnormality of the knee	5573	PRKAR1A	ORPHA:950
HP:0002815	Abnormality of the knee	5144	PDE4D	ORPHA:950
HP:0002815	Abnormality of the knee	65992	DDRGK1	OMIM:602557
HP:0002815	Abnormality of the knee	65992	DDRGK1	ORPHA:93352
HP:0002815	Abnormality of the knee	1594	CYP27B1	ORPHA:289157
HP:0002815	Abnormality of the knee	120227	CYP2R1	ORPHA:289157
HP:0002815	Abnormality of the knee	55325	UFSP2	OMIM:617974
HP:0002815	Abnormality of the knee	9401	RECQL4	ORPHA:221016
HP:0002815	Abnormality of the knee	11128	POLR3A	OMIM:264090
HP:0002815	Abnormality of the knee	2261	FGFR3	ORPHA:429
HP:0002815	Abnormality of the knee	2261	FGFR3	OMIM:146000
HP:0002815	Abnormality of the knee	2261	FGFR3	OMIM:100800
HP:0002815	Abnormality of the knee	9321	TRIP11	OMIM:184260
HP:0002815	Abnormality of the knee	79631	EFL1	OMIM:617941
HP:0002815	Abnormality of the knee	124583	CANT1	OMIM:251450
HP:0002815	Abnormality of the knee	124583	CANT1	OMIM:617719
HP:0002815	Abnormality of the knee	284403	WDR62	OMIM:604317
HP:0002815	Abnormality of the knee	4318	MMP9	OMIM:613073
HP:0002815	Abnormality of the knee	3549	IHH	ORPHA:63446
HP:0002815	Abnormality of the knee	3549	IHH	OMIM:607778
HP:0002815	Abnormality of the knee	1758	DMP1	ORPHA:289176
HP:0002815	Abnormality of the knee	4052	LTBP1	OMIM:619451
HP:0002815	Abnormality of the knee	6137	RPL13	OMIM:618728
HP:0002815	Abnormality of the knee	64131	XYLT1	OMIM:615777
HP:0002815	Abnormality of the knee	9675	TTI1	OMIM:620445
HP:0002815	Abnormality of the knee	9939	RBM8A	ORPHA:3320
HP:0002815	Abnormality of the knee	9939	RBM8A	OMIM:274000
HP:0002815	Abnormality of the knee	6578	SLCO2A1	ORPHA:2796
HP:0002815	Abnormality of the knee	26123	TCTN3	ORPHA:2753
HP:0002815	Abnormality of the knee	633	BGN	OMIM:300106
HP:0002815	Abnormality of the knee	5442	POLRMT	OMIM:619743
HP:0002815	Abnormality of the knee	23594	ORC6	OMIM:613803
HP:0002815	Abnormality of the knee	6023	RMRP	OMIM:250460
HP:0002815	Abnormality of the knee	64682	ANAPC1	ORPHA:221008
HP:0002815	Abnormality of the knee	375	ARF1	ORPHA:98892
HP:0002815	Abnormality of the knee	4131	MAP1B	ORPHA:98892
HP:0002815	Abnormality of the knee	23327	NEDD4L	ORPHA:98892
HP:0002815	Abnormality of the knee	160418	TMTC3	ORPHA:98892
HP:0002815	Abnormality of the knee	10564	ARFGEF2	ORPHA:98892
HP:0002815	Abnormality of the knee	55780	ERMARD	ORPHA:98892
HP:0002815	Abnormality of the knee	50515	CHST11	OMIM:618167
HP:0002815	Abnormality of the knee	2033	EP300	OMIM:180849
HP:0002815	Abnormality of the knee	2033	EP300	ORPHA:353284
HP:0002815	Abnormality of the knee	1387	CREBBP	OMIM:180849
HP:0002815	Abnormality of the knee	1387	CREBBP	ORPHA:353277
HP:0002815	Abnormality of the knee	1387	CREBBP	ORPHA:353281
HP:0002815	Abnormality of the knee	23522	KAT6B	OMIM:606170
HP:0002815	Abnormality of the knee	23522	KAT6B	OMIM:603736
HP:0002815	Abnormality of the knee	7528	YY1	OMIM:617557
HP:0002815	Abnormality of the knee	5290	PIK3CA	ORPHA:140944
HP:0002815	Abnormality of the knee	91461	PKDCC	OMIM:618821
HP:0002815	Abnormality of the knee	90459	ERI1	OMIM:620663
HP:0002815	Abnormality of the knee	90459	ERI1	OMIM:620662
HP:0002815	Abnormality of the knee	8200	GDF5	ORPHA:968
HP:0002815	Abnormality of the knee	8200	GDF5	OMIM:228900
HP:0002815	Abnormality of the knee	5351	PLOD1	ORPHA:1900
HP:0002815	Abnormality of the knee	1312	COMT	ORPHA:567
HP:0002815	Abnormality of the knee	221037	JMJD1C	ORPHA:567
HP:0002815	Abnormality of the knee	2812	GP1BB	ORPHA:567
HP:0002815	Abnormality of the knee	6239	RREB1	ORPHA:567
HP:0002815	Abnormality of the knee	6899	TBX1	ORPHA:567
HP:0002815	Abnormality of the knee	6899	TBX1	OMIM:188400
HP:0002815	Abnormality of the knee	7290	HIRA	ORPHA:567
HP:0002815	Abnormality of the knee	9632	SEC24C	ORPHA:567
HP:0002815	Abnormality of the knee	7353	UFD1	ORPHA:567
HP:0002815	Abnormality of the knee	421	ARVCF	ORPHA:567
HP:0002815	Abnormality of the knee	10682	EBP	OMIM:302960
HP:0002815	Abnormality of the knee	10682	EBP	ORPHA:35173
HP:0002815	Abnormality of the knee	1277	COL1A1	ORPHA:287
HP:0002815	Abnormality of the knee	1290	COL5A2	ORPHA:287
HP:0002815	Abnormality of the knee	65267	WNK3	OMIM:309610
HP:0002815	Abnormality of the knee	2535	FZD2	ORPHA:93328
HP:0002815	Abnormality of the knee	6812	STXBP1	ORPHA:495818
HP:0002815	Abnormality of the knee	57688	ZSWIM6	ORPHA:1827
HP:0002815	Abnormality of the knee	57688	ZSWIM6	OMIM:603671
HP:0002815	Abnormality of the knee	5307	PITX1	OMIM:119800
HP:0002815	Abnormality of the knee	55148	UBR7	OMIM:619189
HP:0002815	Abnormality of the knee	29980	DONSON	OMIM:617604
HP:0002815	Abnormality of the knee	6662	SOX9	OMIM:114290
HP:0002815	Abnormality of the knee	54496	PRMT7	ORPHA:464288
HP:0002815	Abnormality of the knee	78987	CRELD1	OMIM:620771
HP:0002815	Abnormality of the knee	56896	DPYSL5	OMIM:619435
HP:0002815	Abnormality of the knee	10082	GPC6	OMIM:258315
HP:0002815	Abnormality of the knee	2146	EZH2	OMIM:277590
HP:0002815	Abnormality of the knee	6326	SCN2A	ORPHA:33069
HP:0002815	Abnormality of the knee	6326	SCN2A	ORPHA:36387
HP:0002815	Abnormality of the knee	2554	GABRA1	ORPHA:33069
HP:0002815	Abnormality of the knee	6323	SCN1A	ORPHA:33069
HP:0002815	Abnormality of the knee	6323	SCN1A	ORPHA:36387
HP:0002815	Abnormality of the knee	6324	SCN1B	ORPHA:33069
HP:0002815	Abnormality of the knee	6324	SCN1B	ORPHA:36387
HP:0002815	Abnormality of the knee	57526	PCDH19	ORPHA:33069
HP:0002815	Abnormality of the knee	2566	GABRG2	ORPHA:33069
HP:0002815	Abnormality of the knee	2566	GABRG2	ORPHA:36387
HP:0002815	Abnormality of the knee	112755	STX1B	ORPHA:36387
HP:0002815	Abnormality of the knee	2563	GABRD	ORPHA:36387
HP:0002815	Abnormality of the knee	112476	PRRT2	ORPHA:36387
HP:0002815	Abnormality of the knee	348980	HCN1	ORPHA:36387
HP:0002815	Abnormality of the knee	2258	FGF13	ORPHA:36387
HP:0002815	Abnormality of the knee	84059	ADGRV1	ORPHA:36387
HP:0002815	Abnormality of the knee	3187	HNRNPH1	OMIM:620083
HP:0002815	Abnormality of the knee	2317	FLNB	ORPHA:56305
HP:0002815	Abnormality of the knee	2317	FLNB	OMIM:150250
HP:0002815	Abnormality of the knee	2317	FLNB	OMIM:108721
HP:0002815	Abnormality of the knee	2317	FLNB	OMIM:108720
HP:0002815	Abnormality of the knee	6261	RYR1	ORPHA:178145
HP:0002815	Abnormality of the knee	79989	IFT56	OMIM:619534
HP:0002815	Abnormality of the knee	23233	EXOC6B	OMIM:618395
HP:0002815	Abnormality of the knee	165	AEBP1	OMIM:618000
HP:0002815	Abnormality of the knee	165	AEBP1	ORPHA:536532
HP:0002815	Abnormality of the knee	23443	SLC35A3	OMIM:615553
HP:0002815	Abnormality of the knee	23443	SLC35A3	ORPHA:370943
HP:0002815	Abnormality of the knee	347734	SLC35B2	OMIM:620269
HP:0002815	Abnormality of the knee	10586	MAB21L2	OMIM:615877
HP:0002815	Abnormality of the knee	9499	MYOT	ORPHA:266
HP:0002815	Abnormality of the knee	8291	DYSF	ORPHA:268
HP:0002815	Abnormality of the knee	4088	SMAD3	ORPHA:284984
HP:0002815	Abnormality of the knee	4088	SMAD3	OMIM:613795
HP:0002815	Abnormality of the knee	6399	TRAPPC2	ORPHA:93284
HP:0002815	Abnormality of the knee	6775	STAT4	ORPHA:85408
HP:0002815	Abnormality of the knee	6775	STAT4	ORPHA:85410
HP:0002815	Abnormality of the knee	3560	IL2RB	ORPHA:85408
HP:0002815	Abnormality of the knee	3560	IL2RB	ORPHA:85410
HP:0002815	Abnormality of the knee	79722	ANKRD55	ORPHA:85408
HP:0002815	Abnormality of the knee	79722	ANKRD55	ORPHA:85410
HP:0002815	Abnormality of the knee	26191	PTPN22	ORPHA:85408
HP:0002815	Abnormality of the knee	26191	PTPN22	ORPHA:85410
HP:0002815	Abnormality of the knee	919	CD247	ORPHA:85408
HP:0002815	Abnormality of the knee	919	CD247	ORPHA:85410
HP:0002815	Abnormality of the knee	3559	IL2RA	ORPHA:85408
HP:0002815	Abnormality of the knee	3559	IL2RA	ORPHA:85410
HP:0002815	Abnormality of the knee	5771	PTPN2	ORPHA:85408
HP:0002815	Abnormality of the knee	5771	PTPN2	ORPHA:85410
HP:0002815	Abnormality of the knee	4087	SMAD2	OMIM:619656
HP:0002815	Abnormality of the knee	10216	PRG4	ORPHA:2848
HP:0002815	Abnormality of the knee	23345	SYNE1	ORPHA:319332
HP:0002815	Abnormality of the knee	11160	ERLIN2	ORPHA:280384
HP:0002815	Abnormality of the knee	11160	ERLIN2	ORPHA:209951
HP:0002815	Abnormality of the knee	4921	DDR2	OMIM:271665
HP:0002815	Abnormality of the knee	23141	ANKLE2	OMIM:616681
HP:0002815	Abnormality of the knee	8506	CNTNAP1	OMIM:616286
HP:0002815	Abnormality of the knee	1756	DMD	OMIM:310200
HP:0002815	Abnormality of the knee	170689	ADAMTS15	OMIM:620545
HP:0002815	Abnormality of the knee	5352	PLOD2	OMIM:609220
HP:0002815	Abnormality of the knee	6840	SVIL	OMIM:619040
HP:0002815	Abnormality of the knee	3714	JAG2	OMIM:619566
HP:0002815	Abnormality of the knee	51506	UFC1	OMIM:618076
HP:0002815	Abnormality of the knee	4649	MYO9A	OMIM:618198
HP:0002815	Abnormality of the knee	6616	SNAP25	OMIM:616330
HP:0002815	Abnormality of the knee	2067	ERCC1	OMIM:610758
HP:0002815	Abnormality of the knee	29925	GMPPB	ORPHA:353327
HP:0002815	Abnormality of the knee	2673	GFPT1	ORPHA:353327
HP:0002815	Abnormality of the knee	1798	DPAGT1	ORPHA:353327
HP:0002815	Abnormality of the knee	85365	ALG2	ORPHA:353327
HP:0002815	Abnormality of the knee	85365	ALG2	OMIM:616228
HP:0002815	Abnormality of the knee	199857	ALG14	ORPHA:353327
HP:0002815	Abnormality of the knee	79158	GNPTAB	ORPHA:576
HP:0002815	Abnormality of the knee	79158	GNPTAB	OMIM:252600
HP:0002815	Abnormality of the knee	2273	FHL1	OMIM:300695
HP:0002815	Abnormality of the knee	4621	MYH3	OMIM:193700
HP:0002815	Abnormality of the knee	4621	MYH3	OMIM:178110
HP:0002815	Abnormality of the knee	23321	TRIM2	OMIM:615490
HP:0002815	Abnormality of the knee	92255	LMBRD2	OMIM:619694
HP:0002815	Abnormality of the knee	2010	EMD	OMIM:310300
HP:0002815	Abnormality of the knee	29968	PSAT1	ORPHA:284417
HP:0002815	Abnormality of the knee	57190	SELENON	ORPHA:2020
HP:0002815	Abnormality of the knee	4633	MYL2	ORPHA:2020
HP:0002815	Abnormality of the knee	3679	ITGA7	ORPHA:2020
HP:0002815	Abnormality of the knee	9200	HACD1	ORPHA:2020
HP:0002815	Abnormality of the knee	7170	TPM3	ORPHA:2020
HP:0002815	Abnormality of the knee	51776	MAP3K20	ORPHA:2020
HP:0002815	Abnormality of the knee	5297	PI4KA	OMIM:619621
HP:0002815	Abnormality of the knee	5297	PI4KA	OMIM:616531
HP:0002815	Abnormality of the knee	5297	PI4KA	OMIM:619708
HP:0002815	Abnormality of the knee	84342	COG8	OMIM:611182
HP:0002815	Abnormality of the knee	127833	SYT2	OMIM:619461
HP:0002815	Abnormality of the knee	5277	PIGA	OMIM:300868
HP:0002815	Abnormality of the knee	2783	GNB2	OMIM:619503
HP:0002815	Abnormality of the knee	4632	MYL1	OMIM:618414
HP:0002815	Abnormality of the knee	79644	SRD5A3	OMIM:612713
HP:0002815	Abnormality of the knee	6811	STX5	OMIM:620454
HP:0002815	Abnormality of the knee	9531	BAG3	OMIM:612954
HP:0002815	Abnormality of the knee	6874	TAF4	OMIM:620450
HP:0002815	Abnormality of the knee	2074	ERCC6	OMIM:214150
HP:0002815	Abnormality of the knee	9051	PSTPIP1	OMIM:604416
HP:0002815	Abnormality of the knee	10804	GJB6	ORPHA:477
HP:0002815	Abnormality of the knee	2706	GJB2	ORPHA:477
HP:0002815	Abnormality of the knee	2706	GJB2	OMIM:148210
HP:0002815	Abnormality of the knee	9791	PTDSS1	OMIM:151050
HP:0002815	Abnormality of the knee	63895	PIEZO2	OMIM:114300
HP:0002815	Abnormality of the knee	29895	MYL11	OMIM:619110
HP:0002815	Abnormality of the knee	9894	TELO2	ORPHA:488642
HP:0002815	Abnormality of the knee	259232	NALCN	ORPHA:371364
HP:0002815	Abnormality of the knee	259232	NALCN	OMIM:616266
HP:0002815	Abnormality of the knee	285175	UNC80	ORPHA:371364
HP:0002815	Abnormality of the knee	25914	RTTN	ORPHA:468631
HP:0002815	Abnormality of the knee	157570	ESCO2	ORPHA:3103
HP:0002815	Abnormality of the knee	157570	ESCO2	OMIM:268300
HP:0002815	Abnormality of the knee	84992	PIGY	OMIM:616809
HP:0002815	Abnormality of the knee	10613	ERLIN1	ORPHA:401785
HP:0002815	Abnormality of the knee	6134	RPL10	ORPHA:435938
HP:0002815	Abnormality of the knee	22978	NT5C2	ORPHA:320396
HP:0002815	Abnormality of the knee	2222	FDFT1	OMIM:618156
HP:0002815	Abnormality of the knee	83636	C19orf12	OMIM:615043
HP:0002815	Abnormality of the knee	163175	LGI4	OMIM:617468
HP:0002815	Abnormality of the knee	4773	NFATC2	OMIM:620232
HP:0002815	Abnormality of the knee	1376	CPT2	OMIM:608836
HP:0002815	Abnormality of the knee	5296	PIK3R2	OMIM:603387
HP:0002815	Abnormality of the knee	23387	SIK3	OMIM:618162
HP:0002815	Abnormality of the knee	23299	BICD2	OMIM:615290
HP:0002815	Abnormality of the knee	8813	DPM1	OMIM:608799
HP:0002815	Abnormality of the knee	8813	DPM1	ORPHA:79322
HP:0002815	Abnormality of the knee	339855	KY	ORPHA:496689
HP:0002815	Abnormality of the knee	6572	SLC18A3	OMIM:617239
HP:0002815	Abnormality of the knee	6389	SDHA	ORPHA:3208
HP:0002815	Abnormality of the knee	6390	SDHB	ORPHA:3208
HP:0002815	Abnormality of the knee	6392	SDHD	ORPHA:3208
HP:0002815	Abnormality of the knee	644096	SDHAF1	ORPHA:3208
HP:0002815	Abnormality of the knee	7317	UBA1	ORPHA:1145
HP:0002815	Abnormality of the knee	55681	SCYL2	ORPHA:1143
HP:0002815	Abnormality of the knee	84570	COL25A1	ORPHA:1143
HP:0002815	Abnormality of the knee	57222	ERGIC1	ORPHA:1143
HP:0002815	Abnormality of the knee	64116	SLC39A8	ORPHA:468699
HP:0002815	Abnormality of the knee	91137	SLC25A46	OMIM:619303
HP:0002815	Abnormality of the knee	1140	CHRNB1	OMIM:616313
HP:0002815	Abnormality of the knee	529	ATP6V1E1	OMIM:617402
HP:0002815	Abnormality of the knee	8449	DHX16	OMIM:618733
HP:0002815	Abnormality of the knee	2737	GLI3	ORPHA:93322
HP:0002815	Abnormality of the knee	7415	VCP	ORPHA:435387
HP:0002815	Abnormality of the knee	2318	FLNC	ORPHA:63273
HP:0002815	Abnormality of the knee	9427	ECEL1	OMIM:615065
HP:0002815	Abnormality of the knee	100151683	RNU4ATAC	OMIM:210710
HP:0002815	Abnormality of the knee	727857	BHLHA9	ORPHA:3329
HP:0002815	Abnormality of the knee	64327	LMBR1	ORPHA:988
HP:0002815	Abnormality of the knee	64327	LMBR1	OMIM:135750
HP:0002815	Abnormality of the knee	6469	SHH	ORPHA:988
HP:0002815	Abnormality of the knee	5000	ORC4	ORPHA:2554
HP:0002815	Abnormality of the knee	5000	ORC4	OMIM:613800
HP:0002815	Abnormality of the knee	990	CDC6	ORPHA:2554
HP:0002815	Abnormality of the knee	990	CDC6	OMIM:613805
HP:0002815	Abnormality of the knee	51053	GMNN	ORPHA:2554
HP:0002815	Abnormality of the knee	51053	GMNN	OMIM:616835
HP:0002815	Abnormality of the knee	1146	CHRNG	OMIM:265000
HP:0002815	Abnormality of the knee	57492	ARID1B	OMIM:135900
HP:0002815	Abnormality of the knee	8318	CDC45	OMIM:617063
HP:0002815	Abnormality of the knee	60681	FKBP10	ORPHA:1149
HP:0002815	Abnormality of the knee	1303	COL12A1	ORPHA:536516
HP:0002815	Abnormality of the knee	8239	USP9X	ORPHA:480880
HP:0002815	Abnormality of the knee	1788	DNMT3A	OMIM:615879
HP:0002815	Abnormality of the knee	5159	PDGFRB	OMIM:601812
HP:0002815	Abnormality of the knee	1289	COL5A1	OMIM:130000
HP:0002815	Abnormality of the knee	1861	TOR1A	OMIM:618947
HP:0002815	Abnormality of the knee	649	BMP1	OMIM:614856
HP:0002815	Abnormality of the knee	3081	HGD	OMIM:203500
HP:0002815	Abnormality of the knee	6885	MAP3K7	ORPHA:1826
HP:0002815	Abnormality of the knee	9131	AIFM1	ORPHA:83629
HP:0002815	Abnormality of the knee	375056	MIA3	OMIM:619269
HP:0002815	Abnormality of the knee	3373	HYAL1	OMIM:601492
HP:0002815	Abnormality of the knee	114548	NLRP3	OMIM:607115
HP:0002815	Abnormality of the knee	4000	LMNA	OMIM:181350
HP:0002815	Abnormality of the knee	8443	GNPAT	OMIM:222765
HP:0002815	Abnormality of the knee	1291	COL6A1	OMIM:158810
HP:0002815	Abnormality of the knee	1293	COL6A3	OMIM:620728
HP:0002815	Abnormality of the knee	1292	COL6A2	OMIM:620727
HP:0002815	Abnormality of the knee	1292	COL6A2	OMIM:620725
HP:0002815	Abnormality of the knee	2201	FBN2	OMIM:121050
HP:0002815	Abnormality of the knee	84466	MEGF10	OMIM:620249
HP:0002815	Abnormality of the knee	27145	FILIP1	OMIM:620775
HP:0002815	Abnormality of the knee	6329	SCN4A	OMIM:620351
HP:0002815	Abnormality of the knee	1353	COX11	OMIM:620275
HP:0002816	Genu recurvatum	10717	AP4B1	ORPHA:280763
HP:0002816	Genu recurvatum	10717	AP4B1	OMIM:614066
HP:0002816	Genu recurvatum	9179	AP4M1	ORPHA:280763
HP:0002816	Genu recurvatum	11154	AP4S1	ORPHA:280763
HP:0002816	Genu recurvatum	23431	AP4E1	ORPHA:280763
HP:0002816	Genu recurvatum	6497	SKI	OMIM:182212
HP:0002816	Genu recurvatum	11285	B4GALT7	OMIM:130070
HP:0002816	Genu recurvatum	4123	MAN2C1	OMIM:619775
HP:0002816	Genu recurvatum	2200	FBN1	OMIM:154700
HP:0002816	Genu recurvatum	2892	GRIA3	ORPHA:364028
HP:0002816	Genu recurvatum	4998	ORC1	OMIM:224690
HP:0002816	Genu recurvatum	1278	COL1A2	OMIM:225320
HP:0002816	Genu recurvatum	1278	COL1A2	ORPHA:230851
HP:0002816	Genu recurvatum	3265	HRAS	ORPHA:2612
HP:0002816	Genu recurvatum	3845	KRAS	ORPHA:2612
HP:0002816	Genu recurvatum	4893	NRAS	ORPHA:2612
HP:0002816	Genu recurvatum	9469	CHST3	OMIM:143095
HP:0002816	Genu recurvatum	57479	PRR12	OMIM:619539
HP:0002816	Genu recurvatum	2006	ELN	ORPHA:90348
HP:0002816	Genu recurvatum	10516	FBLN5	ORPHA:90348
HP:0002816	Genu recurvatum	5832	ALDH18A1	ORPHA:90348
HP:0002816	Genu recurvatum	10973	ASCC3	OMIM:620700
HP:0002816	Genu recurvatum	285590	SH3PXD2B	ORPHA:137834
HP:0002816	Genu recurvatum	1073	CFL2	OMIM:610687
HP:0002816	Genu recurvatum	8936	WASF1	OMIM:618707
HP:0002816	Genu recurvatum	64131	XYLT1	ORPHA:1425
HP:0002816	Genu recurvatum	124583	CANT1	ORPHA:1425
HP:0002816	Genu recurvatum	55790	CSGALNACT1	ORPHA:1425
HP:0002816	Genu recurvatum	1311	COMP	OMIM:177170
HP:0002816	Genu recurvatum	9150	CTDP1	OMIM:604168
HP:0002816	Genu recurvatum	9321	TRIP11	OMIM:184260
HP:0002816	Genu recurvatum	6536	SLC6A9	OMIM:617301
HP:0002816	Genu recurvatum	5728	PTEN	ORPHA:2969
HP:0002816	Genu recurvatum	2245	FGD1	ORPHA:915
HP:0002816	Genu recurvatum	81620	CDT1	OMIM:613804
HP:0002816	Genu recurvatum	57192	MCOLN1	ORPHA:578
HP:0002816	Genu recurvatum	203859	ANO5	ORPHA:206549
HP:0002817	Abnormality of the upper limb	8425	LTBP4	OMIM:613177
HP:0002817	Abnormality of the upper limb	51506	UFC1	OMIM:618076
HP:0002817	Abnormality of the upper limb	84987	COX14	OMIM:619053
HP:0002817	Abnormality of the upper limb	54453	RIN2	OMIM:613075
HP:0002817	Abnormality of the upper limb	114034	TOE1	OMIM:614969
HP:0002817	Abnormality of the upper limb	5442	POLRMT	OMIM:619743
HP:0002817	Abnormality of the upper limb	132158	GLYCTK	OMIM:220120
HP:0002817	Abnormality of the upper limb	55148	UBR7	OMIM:619189
HP:0002817	Abnormality of the upper limb	4591	TRIM37	OMIM:253250
HP:0002817	Abnormality of the upper limb	54539	NDUFB11	OMIM:309801
HP:0002817	Abnormality of the upper limb	1349	COX7B	OMIM:309801
HP:0002817	Abnormality of the upper limb	3052	HCCS	OMIM:309801
HP:0002817	Abnormality of the upper limb	9681	DEPDC5	OMIM:620504
HP:0002817	Abnormality of the upper limb	23137	SMC5	OMIM:620185
HP:0002817	Abnormality of the upper limb	11338	U2AF2	OMIM:620535
HP:0002817	Abnormality of the upper limb	5193	PEX12	OMIM:266510
HP:0002817	Abnormality of the upper limb	6418	SET	OMIM:618106
HP:0002817	Abnormality of the upper limb	5515	PPP2CA	OMIM:618354
HP:0002817	Abnormality of the upper limb	23097	CDK19	OMIM:618916
HP:0002817	Abnormality of the upper limb	5530	PPP3CA	OMIM:617711
HP:0002817	Abnormality of the upper limb	5160	PDHA1	ORPHA:79243
HP:0002817	Abnormality of the upper limb	57187	THOC2	ORPHA:457240
HP:0002817	Abnormality of the upper limb	4329	ALDH6A1	OMIM:614105
HP:0002817	Abnormality of the upper limb	55617	TASP1	OMIM:618950
HP:0002817	Abnormality of the upper limb	1748	DLX4	OMIM:616788
HP:0002817	Abnormality of the upper limb	738	VPS51	OMIM:618606
HP:0002817	Abnormality of the upper limb	51594	NBAS	OMIM:614800
HP:0002817	Abnormality of the upper limb	523	ATP6V1A	OMIM:617403
HP:0002817	Abnormality of the upper limb	3858	KRT10	OMIM:607602
HP:0002817	Abnormality of the upper limb	3858	KRT10	OMIM:620150
HP:0002817	Abnormality of the upper limb	3858	KRT10	OMIM:609165
HP:0002817	Abnormality of the upper limb	121214	SDR9C7	OMIM:617574
HP:0002817	Abnormality of the upper limb	55505	NOP10	OMIM:224230
HP:0002817	Abnormality of the upper limb	55651	NHP2	OMIM:224230
HP:0002817	Abnormality of the upper limb	11012	KLK11	OMIM:620507
HP:0002817	Abnormality of the upper limb	121391	KRT74	OMIM:194300
HP:0002817	Abnormality of the upper limb	3891	KRT85	OMIM:602032
HP:0002817	Abnormality of the upper limb	7373	COL14A1	ORPHA:79501
HP:0002817	Abnormality of the upper limb	79719	AAGAB	ORPHA:79501
HP:0002817	Abnormality of the upper limb	57511	COG6	ORPHA:363523
HP:0002817	Abnormality of the upper limb	57511	COG6	OMIM:615328
HP:0002817	Abnormality of the upper limb	5818	NECTIN1	ORPHA:3253
HP:0002817	Abnormality of the upper limb	5818	NECTIN1	OMIM:225060
HP:0002817	Abnormality of the upper limb	3889	KRT83	OMIM:617756
HP:0002817	Abnormality of the upper limb	4014	LORICRIN	ORPHA:79395
HP:0002817	Abnormality of the upper limb	79092	CARD14	OMIM:173200
HP:0002817	Abnormality of the upper limb	79092	CARD14	ORPHA:2897
HP:0002817	Abnormality of the upper limb	79650	USB1	OMIM:604173
HP:0002817	Abnormality of the upper limb	79650	USB1	ORPHA:1775
HP:0002817	Abnormality of the upper limb	162	AP1B1	OMIM:242150
HP:0002817	Abnormality of the upper limb	4574	MT-TS1	ORPHA:2202
HP:0002817	Abnormality of the upper limb	1824	DSC2	OMIM:610476
HP:0002817	Abnormality of the upper limb	3849	KRT2	ORPHA:455
HP:0002817	Abnormality of the upper limb	6898	TAT	ORPHA:28378
HP:0002817	Abnormality of the upper limb	10483	SEC23B	ORPHA:201
HP:0002817	Abnormality of the upper limb	6392	SDHD	ORPHA:201
HP:0002817	Abnormality of the upper limb	205717	USF3	ORPHA:201
HP:0002817	Abnormality of the upper limb	100144748	KLLN	ORPHA:201
HP:0002817	Abnormality of the upper limb	285848	PNPLA1	OMIM:615024
HP:0002817	Abnormality of the upper limb	285848	PNPLA1	ORPHA:79394
HP:0002817	Abnormality of the upper limb	23328	SASH1	OMIM:618373
HP:0002817	Abnormality of the upper limb	1474	CST6	OMIM:618535
HP:0002817	Abnormality of the upper limb	54795	TRPM4	ORPHA:316
HP:0002817	Abnormality of the upper limb	348938	NIPAL4	OMIM:612281
HP:0002817	Abnormality of the upper limb	348938	NIPAL4	ORPHA:79394
HP:0002817	Abnormality of the upper limb	51371	POMP	ORPHA:281201
HP:0002817	Abnormality of the upper limb	25959	KANK2	OMIM:616099
HP:0002817	Abnormality of the upper limb	57192	MCOLN1	ORPHA:578
HP:0002817	Abnormality of the upper limb	1493	CTLA4	ORPHA:3162
HP:0002817	Abnormality of the upper limb	940	CD28	ORPHA:3162
HP:0002817	Abnormality of the upper limb	7133	TNFRSF1B	ORPHA:3162
HP:0002817	Abnormality of the upper limb	9342	SNAP29	OMIM:609528
HP:0002817	Abnormality of the upper limb	10848	PPP1R13L	OMIM:620519
HP:0002817	Abnormality of the upper limb	79977	GRHL2	OMIM:616029
HP:0002817	Abnormality of the upper limb	286887	KRT6C	OMIM:615735
HP:0002817	Abnormality of the upper limb	79651	RHBDF2	ORPHA:2198
HP:0002817	Abnormality of the upper limb	79644	SRD5A3	ORPHA:324737
HP:0002817	Abnormality of the upper limb	80169	CTC1	ORPHA:1775
HP:0002817	Abnormality of the upper limb	26277	TINF2	ORPHA:1775
HP:0002817	Abnormality of the upper limb	55135	WRAP53	ORPHA:1775
HP:0002817	Abnormality of the upper limb	4869	NPM1	ORPHA:1775
HP:0002817	Abnormality of the upper limb	1736	DKC1	ORPHA:1775
HP:0002817	Abnormality of the upper limb	7286	TUFT1	OMIM:620415
HP:0002817	Abnormality of the upper limb	6820	SULT2B1	ORPHA:79394
HP:0002817	Abnormality of the upper limb	7298	TYMS	OMIM:620040
HP:0002817	Abnormality of the upper limb	55636	CHD7	OMIM:214800
HP:0002817	Abnormality of the upper limb	22827	PUF60	ORPHA:508498
HP:0002817	Abnormality of the upper limb	22827	PUF60	ORPHA:508488
HP:0002817	Abnormality of the upper limb	3736	KCNA1	OMIM:160120
HP:0002817	Abnormality of the upper limb	1593	CYP27A1	ORPHA:909
HP:0002817	Abnormality of the upper limb	7355	SLC35A2	ORPHA:356961
HP:0002817	Abnormality of the upper limb	540	ATP7B	ORPHA:905
HP:0002817	Abnormality of the upper limb	56983	POGLUT1	ORPHA:79145
HP:0002817	Abnormality of the upper limb	3852	KRT5	ORPHA:79145
HP:0002817	Abnormality of the upper limb	23509	POFUT1	ORPHA:79145
HP:0002817	Abnormality of the upper limb	55851	PSENEN	ORPHA:79145
HP:0002817	Abnormality of the upper limb	5447	POR	ORPHA:95699
HP:0002817	Abnormality of the upper limb	6775	STAT4	ORPHA:85408
HP:0002817	Abnormality of the upper limb	3560	IL2RB	ORPHA:85408
HP:0002817	Abnormality of the upper limb	79722	ANKRD55	ORPHA:85408
HP:0002817	Abnormality of the upper limb	26191	PTPN22	ORPHA:85408
HP:0002817	Abnormality of the upper limb	919	CD247	ORPHA:85408
HP:0002817	Abnormality of the upper limb	3559	IL2RA	ORPHA:85408
HP:0002817	Abnormality of the upper limb	5771	PTPN2	ORPHA:85408
HP:0002817	Abnormality of the upper limb	57152	SLURP1	ORPHA:87503
HP:0002817	Abnormality of the upper limb	7204	TRIO	ORPHA:476126
HP:0002817	Abnormality of the upper limb	54487	DGCR8	OMIM:192430
HP:0002817	Abnormality of the upper limb	6899	TBX1	OMIM:192430
HP:0002817	Abnormality of the upper limb	8214	DGCR6	OMIM:192430
HP:0002817	Abnormality of the upper limb	8220	ESS2	OMIM:192430
HP:0002817	Abnormality of the upper limb	9993	DGCR2	OMIM:192430
HP:0002817	Abnormality of the upper limb	23314	SATB2	ORPHA:576283
HP:0002817	Abnormality of the upper limb	5428	POLG	ORPHA:298
HP:0002817	Abnormality of the upper limb	1890	TYMP	ORPHA:298
HP:0002817	Abnormality of the upper limb	3980	LIG3	ORPHA:298
HP:0002817	Abnormality of the upper limb	50484	RRM2B	ORPHA:298
HP:0002817	Abnormality of the upper limb	427	ASAH1	ORPHA:333
HP:0002817	Abnormality of the upper limb	51360	MBTPS2	ORPHA:2273
HP:0002817	Abnormality of the upper limb	2717	GLA	OMIM:301500
HP:0002817	Abnormality of the upper limb	22930	RAB3GAP1	ORPHA:1387
HP:0002817	Abnormality of the upper limb	25782	RAB3GAP2	ORPHA:1387
HP:0002817	Abnormality of the upper limb	4210	MEFV	ORPHA:3243
HP:0002817	Abnormality of the upper limb	5777	PTPN6	ORPHA:3243
HP:0002817	Abnormality of the upper limb	23389	MED13L	ORPHA:369891
HP:0002817	Abnormality of the upper limb	10804	GJB6	OMIM:129500
HP:0002817	Abnormality of the upper limb	3098	HK1	ORPHA:99953
HP:0002817	Abnormality of the upper limb	1001	CDH3	OMIM:601553
HP:0002817	Abnormality of the upper limb	10908	PNPLA6	OMIM:245800
HP:0002817	Abnormality of the upper limb	23111	SPART	ORPHA:101000
HP:0002817	Abnormality of the upper limb	652	BMP4	OMIM:607932
HP:0002817	Abnormality of the upper limb	51651	PTRH2	ORPHA:456312
HP:0002817	Abnormality of the upper limb	4297	KMT2A	ORPHA:319182
HP:0002817	Abnormality of the upper limb	7305	TYROBP	OMIM:221770
HP:0002817	Abnormality of the upper limb	4747	NEFL	ORPHA:101085
HP:0002817	Abnormality of the upper limb	9927	MFN2	ORPHA:99947
HP:0002817	Abnormality of the upper limb	54806	AHI1	ORPHA:475
HP:0002817	Abnormality of the upper limb	54806	AHI1	ORPHA:220493
HP:0002817	Abnormality of the upper limb	200894	ARL13B	ORPHA:475
HP:0002817	Abnormality of the upper limb	9731	CEP104	ORPHA:475
HP:0002817	Abnormality of the upper limb	23247	KATNIP	ORPHA:475
HP:0002817	Abnormality of the upper limb	95681	CEP41	ORPHA:475
HP:0002817	Abnormality of the upper limb	95681	CEP41	ORPHA:220493
HP:0002817	Abnormality of the upper limb	10464	PIBF1	ORPHA:475
HP:0002817	Abnormality of the upper limb	23116	TOGARAM1	ORPHA:475
HP:0002817	Abnormality of the upper limb	25776	CBY1	ORPHA:475
HP:0002817	Abnormality of the upper limb	403	ARL3	ORPHA:475
HP:0002817	Abnormality of the upper limb	80173	IFT74	ORPHA:475
HP:0002817	Abnormality of the upper limb	1947	EFNB1	ORPHA:1520
HP:0002817	Abnormality of the upper limb	4867	NPHP1	ORPHA:220497
HP:0002817	Abnormality of the upper limb	641	BLM	OMIM:210900
HP:0002817	Abnormality of the upper limb	7021	TFAP2B	ORPHA:46627
HP:0002817	Abnormality of the upper limb	51524	TMEM138	ORPHA:2318
HP:0002817	Abnormality of the upper limb	23090	ZNF423	ORPHA:2318
HP:0002817	Abnormality of the upper limb	9897	WASHC5	ORPHA:7
HP:0002817	Abnormality of the upper limb	2313	FLI1	ORPHA:2308
HP:0002817	Abnormality of the upper limb	6309	SC5D	ORPHA:46059
HP:0002817	Abnormality of the upper limb	6309	SC5D	OMIM:607330
HP:0002817	Abnormality of the upper limb	894	CCND2	ORPHA:83473
HP:0002817	Abnormality of the upper limb	894	CCND2	OMIM:615938
HP:0002817	Abnormality of the upper limb	5296	PIK3R2	ORPHA:83473
HP:0002817	Abnormality of the upper limb	10000	AKT3	ORPHA:83473
HP:0002817	Abnormality of the upper limb	10000	AKT3	OMIM:615937
HP:0002817	Abnormality of the upper limb	26160	IFT172	OMIM:615630
HP:0002817	Abnormality of the upper limb	26160	IFT172	ORPHA:474
HP:0002817	Abnormality of the upper limb	26160	IFT172	OMIM:619471
HP:0002817	Abnormality of the upper limb	54585	LZTFL1	OMIM:615994
HP:0002817	Abnormality of the upper limb	56623	INPP5E	OMIM:213300
HP:0002817	Abnormality of the upper limb	56623	INPP5E	ORPHA:1454
HP:0002817	Abnormality of the upper limb	4149	MAX	OMIM:620712
HP:0002817	Abnormality of the upper limb	51057	WDPCP	OMIM:217085
HP:0002817	Abnormality of the upper limb	3209	HOXA13	ORPHA:2438
HP:0002817	Abnormality of the upper limb	3209	HOXA13	OMIM:176305
HP:0002817	Abnormality of the upper limb	285600	KIAA0825	OMIM:618498
HP:0002817	Abnormality of the upper limb	26005	C2CD3	OMIM:615948
HP:0002817	Abnormality of the upper limb	26005	C2CD3	ORPHA:434179
HP:0002817	Abnormality of the upper limb	153241	CEP120	ORPHA:474
HP:0002817	Abnormality of the upper limb	79809	TTC21B	ORPHA:474
HP:0002817	Abnormality of the upper limb	79005	SCNM1	OMIM:620107
HP:0002817	Abnormality of the upper limb	2736	GLI2	OMIM:610829
HP:0002817	Abnormality of the upper limb	80210	ARMC9	OMIM:617622
HP:0002817	Abnormality of the upper limb	23288	IQCE	OMIM:617642
HP:0002817	Abnormality of the upper limb	583	BBS2	OMIM:615981
HP:0002817	Abnormality of the upper limb	137392	CIBAR1	OMIM:618219
HP:0002817	Abnormality of the upper limb	166379	BBS12	OMIM:615989
HP:0002817	Abnormality of the upper limb	27241	BBS9	OMIM:615986
HP:0002817	Abnormality of the upper limb	157657	CFAP418	OMIM:617406
HP:0002817	Abnormality of the upper limb	255758	DYNLT2B	OMIM:617405
HP:0002817	Abnormality of the upper limb	4088	SMAD3	ORPHA:284984
HP:0002817	Abnormality of the upper limb	4088	SMAD3	OMIM:613795
HP:0002817	Abnormality of the upper limb	4088	SMAD3	ORPHA:60030
HP:0002817	Abnormality of the upper limb	4088	SMAD3	ORPHA:91387
HP:0002817	Abnormality of the upper limb	875	CBS	ORPHA:394
HP:0002817	Abnormality of the upper limb	875	CBS	OMIM:236200
HP:0002817	Abnormality of the upper limb	25970	SH2B1	ORPHA:261222
HP:0002817	Abnormality of the upper limb	1075	CTSC	OMIM:245010
HP:0002817	Abnormality of the upper limb	1075	CTSC	ORPHA:678
HP:0002817	Abnormality of the upper limb	5351	PLOD1	OMIM:225400
HP:0002817	Abnormality of the upper limb	8076	MFAP5	OMIM:616166
HP:0002817	Abnormality of the upper limb	8076	MFAP5	ORPHA:91387
HP:0002817	Abnormality of the upper limb	2202	EFEMP1	OMIM:620780
HP:0002817	Abnormality of the upper limb	72	ACTG2	ORPHA:2604
HP:0002817	Abnormality of the upper limb	51114	ZDHHC9	ORPHA:776
HP:0002817	Abnormality of the upper limb	51114	ZDHHC9	OMIM:300799
HP:0002817	Abnormality of the upper limb	1146	CHRNG	OMIM:265000
HP:0002817	Abnormality of the upper limb	1312	COMT	ORPHA:567
HP:0002817	Abnormality of the upper limb	221037	JMJD1C	ORPHA:567
HP:0002817	Abnormality of the upper limb	2812	GP1BB	ORPHA:567
HP:0002817	Abnormality of the upper limb	6239	RREB1	ORPHA:567
HP:0002817	Abnormality of the upper limb	7290	HIRA	ORPHA:567
HP:0002817	Abnormality of the upper limb	9632	SEC24C	ORPHA:567
HP:0002817	Abnormality of the upper limb	7353	UFD1	ORPHA:567
HP:0002817	Abnormality of the upper limb	421	ARVCF	ORPHA:567
HP:0002817	Abnormality of the upper limb	79576	NKAP	OMIM:301039
HP:0002817	Abnormality of the upper limb	25	ABL1	OMIM:617602
HP:0002817	Abnormality of the upper limb	23152	CIC	OMIM:617600
HP:0002817	Abnormality of the upper limb	10526	IPO8	OMIM:619472
HP:0002817	Abnormality of the upper limb	10526	IPO8	ORPHA:60030
HP:0002817	Abnormality of the upper limb	490	ATP2B1	OMIM:619910
HP:0002817	Abnormality of the upper limb	4534	MTM1	OMIM:310400
HP:0002817	Abnormality of the upper limb	5184	PEPD	ORPHA:742
HP:0002817	Abnormality of the upper limb	715	C1R	OMIM:130080
HP:0002817	Abnormality of the upper limb	6605	SMARCE1	OMIM:616938
HP:0002817	Abnormality of the upper limb	11107	PRDM5	ORPHA:90354
HP:0002817	Abnormality of the upper limb	84627	ZNF469	ORPHA:90354
HP:0002817	Abnormality of the upper limb	5727	PTCH1	ORPHA:377
HP:0002817	Abnormality of the upper limb	8643	PTCH2	ORPHA:377
HP:0002817	Abnormality of the upper limb	51684	SUFU	ORPHA:377
HP:0002817	Abnormality of the upper limb	4677	NARS1	OMIM:619092
HP:0002817	Abnormality of the upper limb	2193	FARSA	OMIM:619013
HP:0002817	Abnormality of the upper limb	4087	SMAD2	OMIM:619656
HP:0002817	Abnormality of the upper limb	4087	SMAD2	ORPHA:60030
HP:0002817	Abnormality of the upper limb	4087	SMAD2	ORPHA:91387
HP:0002817	Abnormality of the upper limb	29893	PSMC3IP	ORPHA:243
HP:0002817	Abnormality of the upper limb	171568	POLR3H	ORPHA:243
HP:0002817	Abnormality of the upper limb	2516	NR5A1	ORPHA:243
HP:0002817	Abnormality of the upper limb	125150	ZSWIM7	ORPHA:243
HP:0002817	Abnormality of the upper limb	9210	BMP15	ORPHA:243
HP:0002817	Abnormality of the upper limb	23514	SPIDR	ORPHA:243
HP:0002817	Abnormality of the upper limb	2492	FSHR	ORPHA:243
HP:0002817	Abnormality of the upper limb	56945	MRPS22	ORPHA:243
HP:0002817	Abnormality of the upper limb	646	BNC1	ORPHA:243
HP:0002817	Abnormality of the upper limb	4438	MSH4	ORPHA:243
HP:0002817	Abnormality of the upper limb	55553	SOX6	OMIM:618971
HP:0002817	Abnormality of the upper limb	7046	TGFBR1	ORPHA:60030
HP:0002817	Abnormality of the upper limb	7046	TGFBR1	OMIM:609192
HP:0002817	Abnormality of the upper limb	7046	TGFBR1	ORPHA:91387
HP:0002817	Abnormality of the upper limb	7042	TGFB2	ORPHA:60030
HP:0002817	Abnormality of the upper limb	7042	TGFB2	OMIM:614816
HP:0002817	Abnormality of the upper limb	7042	TGFB2	ORPHA:91387
HP:0002817	Abnormality of the upper limb	4629	MYH11	ORPHA:91387
HP:0002817	Abnormality of the upper limb	4015	LOX	ORPHA:91387
HP:0002817	Abnormality of the upper limb	59	ACTA2	ORPHA:91387
HP:0002817	Abnormality of the upper limb	5592	PRKG1	ORPHA:91387
HP:0002817	Abnormality of the upper limb	2301	FOXE3	ORPHA:91387
HP:0002817	Abnormality of the upper limb	4144	MAT2A	ORPHA:91387
HP:0002817	Abnormality of the upper limb	23493	HEY2	ORPHA:91387
HP:0002817	Abnormality of the upper limb	4638	MYLK	ORPHA:91387
HP:0002817	Abnormality of the upper limb	79875	THSD4	ORPHA:91387
HP:0002817	Abnormality of the upper limb	23394	ADNP	ORPHA:404448
HP:0002817	Abnormality of the upper limb	9791	PTDSS1	ORPHA:2658
HP:0002817	Abnormality of the upper limb	100151683	RNU4ATAC	ORPHA:2636
HP:0002817	Abnormality of the upper limb	4893	NRAS	OMIM:163200
HP:0002817	Abnormality of the upper limb	3845	KRAS	OMIM:163200
HP:0002817	Abnormality of the upper limb	3265	HRAS	OMIM:163200
HP:0002817	Abnormality of the upper limb	526	ATP6V1B2	ORPHA:79500
HP:0002817	Abnormality of the upper limb	57465	TBC1D24	ORPHA:79500
HP:0002817	Abnormality of the upper limb	6595	SMARCA2	ORPHA:3051
HP:0002817	Abnormality of the upper limb	9896	FIG4	ORPHA:3472
HP:0002817	Abnormality of the upper limb	55697	VAC14	ORPHA:3472
HP:0002817	Abnormality of the upper limb	23400	ATP13A2	ORPHA:306674
HP:0002817	Abnormality of the upper limb	64374	SIL1	ORPHA:559
HP:0002817	Abnormality of the upper limb	91949	COG7	ORPHA:79333
HP:0002817	Abnormality of the upper limb	134218	DNAJC21	ORPHA:811
HP:0002817	Abnormality of the upper limb	79631	EFL1	ORPHA:811
HP:0002817	Abnormality of the upper limb	51119	SBDS	ORPHA:811
HP:0002817	Abnormality of the upper limb	6926	TBX3	ORPHA:3138
HP:0002817	Abnormality of the upper limb	54808	DYM	OMIM:223800
HP:0002817	Abnormality of the upper limb	4921	DDR2	OMIM:271665
HP:0002817	Abnormality of the upper limb	3549	IHH	OMIM:112500
HP:0002817	Abnormality of the upper limb	2245	FGD1	OMIM:305400
HP:0002817	Abnormality of the upper limb	2245	FGD1	ORPHA:915
HP:0002817	Abnormality of the upper limb	9131	AIFM1	OMIM:300232
HP:0002817	Abnormality of the upper limb	145173	B3GLCT	OMIM:261540
HP:0002817	Abnormality of the upper limb	23135	KDM6B	OMIM:618505
HP:0002817	Abnormality of the upper limb	1778	DYNC1H1	OMIM:614563
HP:0002817	Abnormality of the upper limb	54543	TOMM7	OMIM:620601
HP:0002817	Abnormality of the upper limb	4796	TONSL	ORPHA:93357
HP:0002817	Abnormality of the upper limb	79718	TBL1XR1	OMIM:602342
HP:0002817	Abnormality of the upper limb	171023	ASXL1	OMIM:605039
HP:0002817	Abnormality of the upper limb	5277	PIGA	OMIM:300868
HP:0002817	Abnormality of the upper limb	57560	IFT80	OMIM:611263
HP:0002817	Abnormality of the upper limb	55012	PPP2R3C	OMIM:618419
HP:0002817	Abnormality of the upper limb	23384	SPECC1L	OMIM:145420
HP:0002817	Abnormality of the upper limb	23524	SRRM2	OMIM:620439
HP:0002817	Abnormality of the upper limb	22907	DHX30	OMIM:617804
HP:0002817	Abnormality of the upper limb	10664	CTCF	OMIM:615502
HP:0002817	Abnormality of the upper limb	2314	FLII	ORPHA:819
HP:0002817	Abnormality of the upper limb	23096	IQSEC2	ORPHA:819
HP:0002817	Abnormality of the upper limb	10522	DEAF1	ORPHA:819
HP:0002817	Abnormality of the upper limb	2719	GPC3	OMIM:312870
HP:0002817	Abnormality of the upper limb	2239	GPC4	OMIM:312870
HP:0002817	Abnormality of the upper limb	2799	GNS	OMIM:252940
HP:0002817	Abnormality of the upper limb	55343	SLC35C1	ORPHA:99843
HP:0002817	Abnormality of the upper limb	4047	LSS	ORPHA:2850
HP:0002817	Abnormality of the upper limb	197	AHSG	ORPHA:2850
HP:0002817	Abnormality of the upper limb	3694	ITGB6	ORPHA:2850
HP:0002817	Abnormality of the upper limb	79581	SLC52A2	OMIM:614707
HP:0002817	Abnormality of the upper limb	411	ARSB	OMIM:253200
HP:0002817	Abnormality of the upper limb	56704	JPH1	OMIM:607831
HP:0002817	Abnormality of the upper limb	51776	MAP3K20	OMIM:616890
HP:0002817	Abnormality of the upper limb	79158	GNPTAB	OMIM:252500
HP:0002817	Abnormality of the upper limb	8888	MCM3AP	OMIM:618124
HP:0002817	Abnormality of the upper limb	4359	MPZ	OMIM:118200
HP:0002817	Abnormality of the upper limb	4359	MPZ	OMIM:145900
HP:0002817	Abnormality of the upper limb	3423	IDS	OMIM:309900
HP:0002817	Abnormality of the upper limb	3664	IRF6	ORPHA:1300
HP:0002817	Abnormality of the upper limb	727857	BHLHA9	ORPHA:3329
HP:0002817	Abnormality of the upper limb	374969	SVBP	OMIM:618569
HP:0002817	Abnormality of the upper limb	3295	HSD17B4	OMIM:261515
HP:0002817	Abnormality of the upper limb	1509	CTSD	OMIM:610127
HP:0002817	Abnormality of the upper limb	64359	NXN	ORPHA:1507
HP:0002817	Abnormality of the upper limb	26123	TCTN3	ORPHA:2753
HP:0002817	Abnormality of the upper limb	2260	FGFR1	ORPHA:2117
HP:0002817	Abnormality of the upper limb	10815	CPLX1	ORPHA:280
HP:0002817	Abnormality of the upper limb	10815	CPLX1	OMIM:194190
HP:0002817	Abnormality of the upper limb	54872	PIGG	ORPHA:280
HP:0002817	Abnormality of the upper limb	7469	NELFA	ORPHA:280
HP:0002817	Abnormality of the upper limb	1487	CTBP1	ORPHA:280
HP:0002817	Abnormality of the upper limb	1487	CTBP1	OMIM:194190
HP:0002817	Abnormality of the upper limb	3954	LETM1	ORPHA:280
HP:0002817	Abnormality of the upper limb	3954	LETM1	OMIM:194190
HP:0002817	Abnormality of the upper limb	7468	NSD2	ORPHA:280
HP:0002817	Abnormality of the upper limb	7468	NSD2	OMIM:194190
HP:0002817	Abnormality of the upper limb	53834	FGFRL1	OMIM:194190
HP:0002817	Abnormality of the upper limb	1959	EGR2	OMIM:145900
HP:0002817	Abnormality of the upper limb	57716	PRX	OMIM:145900
HP:0002817	Abnormality of the upper limb	10262	SF3B4	OMIM:154400
HP:0002817	Abnormality of the upper limb	80207	OPA3	ORPHA:67036
HP:0002817	Abnormality of the upper limb	9158	FIBP	ORPHA:500095
HP:0002817	Abnormality of the upper limb	658	BMPR1B	ORPHA:2639
HP:0002817	Abnormality of the upper limb	25942	SIN3A	ORPHA:94065
HP:0002817	Abnormality of the upper limb	1193	CLIC2	ORPHA:324410
HP:0002817	Abnormality of the upper limb	2263	FGFR2	ORPHA:2363
HP:0002817	Abnormality of the upper limb	2255	FGF10	ORPHA:2363
HP:0002817	Abnormality of the upper limb	6469	SHH	ORPHA:93321
HP:0002817	Abnormality of the upper limb	90	ACVR1	ORPHA:337
HP:0002817	Abnormality of the upper limb	8925	HERC1	OMIM:617011
HP:0002817	Abnormality of the upper limb	23512	SUZ12	OMIM:618786
HP:0002817	Abnormality of the upper limb	23512	SUZ12	ORPHA:3447
HP:0002817	Abnormality of the upper limb	3643	INSR	ORPHA:508
HP:0002817	Abnormality of the upper limb	3643	INSR	OMIM:246200
HP:0002817	Abnormality of the upper limb	5189	PEX1	ORPHA:3220
HP:0002817	Abnormality of the upper limb	5190	PEX6	ORPHA:3220
HP:0002817	Abnormality of the upper limb	85358	SHANK3	OMIM:606232
HP:0002817	Abnormality of the upper limb	4221	MEN1	ORPHA:99725
HP:0002817	Abnormality of the upper limb	8242	KDM5C	OMIM:300534
HP:0002817	Abnormality of the upper limb	440	ASNS	OMIM:615574
HP:0002817	Abnormality of the upper limb	23133	PHF8	ORPHA:85287
HP:0002817	Abnormality of the upper limb	23133	PHF8	OMIM:300263
HP:0002817	Abnormality of the upper limb	5468	PPARG	ORPHA:528
HP:0002817	Abnormality of the upper limb	10555	AGPAT2	ORPHA:528
HP:0002817	Abnormality of the upper limb	10555	AGPAT2	OMIM:608594
HP:0002817	Abnormality of the upper limb	284119	CAVIN1	ORPHA:528
HP:0002817	Abnormality of the upper limb	2353	FOS	ORPHA:528
HP:0002817	Abnormality of the upper limb	6390	SDHB	OMIM:606764
HP:0002817	Abnormality of the upper limb	6391	SDHC	OMIM:606764
HP:0002817	Abnormality of the upper limb	3815	KIT	OMIM:606764
HP:0002817	Abnormality of the upper limb	4763	NF1	ORPHA:363700
HP:0002817	Abnormality of the upper limb	4763	NF1	ORPHA:97685
HP:0002817	Abnormality of the upper limb	372	ARCN1	OMIM:617164
HP:0002817	Abnormality of the upper limb	7543	ZFX	OMIM:301118
HP:0002817	Abnormality of the upper limb	1123	CHN1	ORPHA:233
HP:0002817	Abnormality of the upper limb	374879	ZNF699	OMIM:619488
HP:0002817	Abnormality of the upper limb	220296	HEPACAM	ORPHA:210548
HP:0002817	Abnormality of the upper limb	57688	ZSWIM6	OMIM:603671
HP:0002817	Abnormality of the upper limb	83871	RAB34	OMIM:620718
HP:0002817	Abnormality of the upper limb	7020	TFAP2A	OMIM:113620
HP:0002817	Abnormality of the upper limb	7020	TFAP2A	ORPHA:1297
HP:0002817	Abnormality of the upper limb	84314	TMEM107	ORPHA:564
HP:0002817	Abnormality of the upper limb	79867	TCTN2	ORPHA:564
HP:0002817	Abnormality of the upper limb	80776	B9D2	ORPHA:564
HP:0002817	Abnormality of the upper limb	79600	TCTN1	ORPHA:564
HP:0002817	Abnormality of the upper limb	57096	RPGRIP1	ORPHA:564
HP:0002817	Abnormality of the upper limb	80184	CEP290	ORPHA:564
HP:0002817	Abnormality of the upper limb	51259	TMEM216	ORPHA:564
HP:0002817	Abnormality of the upper limb	57545	CC2D2A	ORPHA:564
HP:0002817	Abnormality of the upper limb	79583	TMEM231	ORPHA:564
HP:0002817	Abnormality of the upper limb	79770	TXNDC15	ORPHA:564
HP:0002817	Abnormality of the upper limb	27077	B9D1	ORPHA:564
HP:0002817	Abnormality of the upper limb	23322	RPGRIP1L	ORPHA:564
HP:0002817	Abnormality of the upper limb	54903	MKS1	ORPHA:564
HP:0002817	Abnormality of the upper limb	65062	TMEM237	ORPHA:564
HP:0002817	Abnormality of the upper limb	27238	GPKOW	ORPHA:2570
HP:0002817	Abnormality of the upper limb	23141	ANKLE2	OMIM:616681
HP:0002817	Abnormality of the upper limb	5393	EXOSC9	OMIM:618065
HP:0002817	Abnormality of the upper limb	55627	SMPD4	OMIM:618622
HP:0002817	Abnormality of the upper limb	5832	ALDH18A1	OMIM:616603
HP:0002817	Abnormality of the upper limb	5832	ALDH18A1	OMIM:219150
HP:0002817	Abnormality of the upper limb	5832	ALDH18A1	ORPHA:90348
HP:0002817	Abnormality of the upper limb	84992	PIGY	OMIM:616809
HP:0002817	Abnormality of the upper limb	9839	ZEB2	ORPHA:261537
HP:0002817	Abnormality of the upper limb	9839	ZEB2	ORPHA:261552
HP:0002817	Abnormality of the upper limb	91754	NEK9	OMIM:617022
HP:0002817	Abnormality of the upper limb	5649	RELN	ORPHA:89844
HP:0002817	Abnormality of the upper limb	10300	KATNB1	ORPHA:89844
HP:0002817	Abnormality of the upper limb	54820	NDE1	ORPHA:89844
HP:0002817	Abnormality of the upper limb	6472	SHMT2	OMIM:619121
HP:0002817	Abnormality of the upper limb	131377	KLHL40	ORPHA:171430
HP:0002817	Abnormality of the upper limb	56203	LMOD3	ORPHA:171430
HP:0002817	Abnormality of the upper limb	202018	TAPT1	OMIM:616897
HP:0002817	Abnormality of the upper limb	91869	RFT1	OMIM:612015
HP:0002817	Abnormality of the upper limb	9179	AP4M1	OMIM:612936
HP:0002817	Abnormality of the upper limb	50515	CHST11	OMIM:618167
HP:0002817	Abnormality of the upper limb	10273	STUB1	ORPHA:412057
HP:0002817	Abnormality of the upper limb	81857	MED25	ORPHA:464738
HP:0002817	Abnormality of the upper limb	3977	LIFR	OMIM:601559
HP:0002817	Abnormality of the upper limb	6999	TDO2	OMIM:600627
HP:0002817	Abnormality of the upper limb	84896	ATAD1	OMIM:618011
HP:0002817	Abnormality of the upper limb	2036	EPB41L1	OMIM:614257
HP:0002817	Abnormality of the upper limb	79693	YRDC	ORPHA:2065
HP:0002817	Abnormality of the upper limb	51002	TPRKB	ORPHA:2065
HP:0002817	Abnormality of the upper limb	55644	OSGEP	ORPHA:2065
HP:0002817	Abnormality of the upper limb	10785	WDR4	ORPHA:2065
HP:0002817	Abnormality of the upper limb	55746	NUP133	ORPHA:2065
HP:0002817	Abnormality of the upper limb	84520	GON7	ORPHA:2065
HP:0002817	Abnormality of the upper limb	112858	TP53RK	ORPHA:2065
HP:0002817	Abnormality of the upper limb	8270	LAGE3	ORPHA:2065
HP:0002817	Abnormality of the upper limb	26834	RNU4-2	OMIM:620851
HP:0002817	Abnormality of the upper limb	23019	CNOT1	OMIM:619033
HP:0002817	Abnormality of the upper limb	2972	BRF1	OMIM:616202
HP:0002817	Abnormality of the upper limb	2972	BRF1	ORPHA:444072
HP:0002817	Abnormality of the upper limb	56916	SMARCAD1	OMIM:129200
HP:0002817	Abnormality of the upper limb	56916	SMARCAD1	OMIM:181600
HP:0002817	Abnormality of the upper limb	55904	KMT2E	OMIM:618512
HP:0002817	Abnormality of the upper limb	24142	NAA80	OMIM:620830
HP:0002817	Abnormality of the upper limb	10978	CLP1	OMIM:615803
HP:0002817	Abnormality of the upper limb	55650	PIGV	OMIM:239300
HP:0002817	Abnormality of the upper limb	1889	ECE1	OMIM:613870
HP:0002817	Abnormality of the upper limb	9326	ZNHIT3	ORPHA:2836
HP:0002817	Abnormality of the upper limb	9326	ZNHIT3	OMIM:260565
HP:0002817	Abnormality of the upper limb	2770	GNAI1	OMIM:619854
HP:0002817	Abnormality of the upper limb	1656	DDX6	OMIM:618653
HP:0002817	Abnormality of the upper limb	55699	IARS2	OMIM:616007
HP:0002817	Abnormality of the upper limb	57282	SLC4A10	OMIM:620746
HP:0002817	Abnormality of the upper limb	51611	DPH5	OMIM:620070
HP:0002817	Abnormality of the upper limb	79813	EHMT1	ORPHA:261652
HP:0002817	Abnormality of the upper limb	58508	KMT2C	ORPHA:261652
HP:0002817	Abnormality of the upper limb	6942	TCF20	OMIM:618430
HP:0002817	Abnormality of the upper limb	84295	PHF6	ORPHA:127
HP:0002817	Abnormality of the upper limb	84295	PHF6	OMIM:301900
HP:0002817	Abnormality of the upper limb	55023	PHIP	ORPHA:589905
HP:0002817	Abnormality of the upper limb	55023	PHIP	OMIM:617991
HP:0002817	Abnormality of the upper limb	9230	RAB11B	OMIM:617807
HP:0002817	Abnormality of the upper limb	9488	PIGB	OMIM:618580
HP:0002817	Abnormality of the upper limb	23013	SPEN	OMIM:619312
HP:0002817	Abnormality of the upper limb	23028	KDM1A	OMIM:616728
HP:0002817	Abnormality of the upper limb	23028	KDM1A	ORPHA:477993
HP:0002817	Abnormality of the upper limb	5575	PRKAR1B	OMIM:619680
HP:0002817	Abnormality of the upper limb	4953	ODC1	ORPHA:544488
HP:0002817	Abnormality of the upper limb	998	CDC42	OMIM:616737
HP:0002817	Abnormality of the upper limb	998	CDC42	ORPHA:487796
HP:0002817	Abnormality of the upper limb	3097	HIVEP2	OMIM:616977
HP:0002817	Abnormality of the upper limb	56915	EXOSC5	OMIM:619576
HP:0002817	Abnormality of the upper limb	1108	CHD4	OMIM:617159
HP:0002817	Abnormality of the upper limb	91137	SLC25A46	OMIM:616505
HP:0002817	Abnormality of the upper limb	8604	SLC25A12	OMIM:612949
HP:0002817	Abnormality of the upper limb	2707	GJB3	ORPHA:317
HP:0002817	Abnormality of the upper limb	2531	KDSR	ORPHA:317
HP:0002817	Abnormality of the upper limb	127534	GJB4	ORPHA:317
HP:0002817	Abnormality of the upper limb	8812	CCNK	OMIM:618147
HP:0002817	Abnormality of the upper limb	8936	WASF1	OMIM:618707
HP:0002817	Abnormality of the upper limb	8405	SPOP	OMIM:618829
HP:0002817	Abnormality of the upper limb	23630	KCNE5	ORPHA:86818
HP:0002817	Abnormality of the upper limb	2182	ACSL4	ORPHA:86818
HP:0002817	Abnormality of the upper limb	11198	SUPT16H	OMIM:619480
HP:0002817	Abnormality of the upper limb	23067	SETD1B	OMIM:619000
HP:0002817	Abnormality of the upper limb	23233	EXOC6B	OMIM:618395
HP:0002817	Abnormality of the upper limb	55704	CCDC88A	OMIM:617507
HP:0002817	Abnormality of the upper limb	1315	COPB1	OMIM:619255
HP:0002817	Abnormality of the upper limb	51317	PHF21A	OMIM:618725
HP:0002817	Abnormality of the upper limb	1968	EIF2S3	ORPHA:85282
HP:0002817	Abnormality of the upper limb	283450	HECTD4	OMIM:620250
HP:0002817	Abnormality of the upper limb	92344	GORAB	OMIM:231070
HP:0002817	Abnormality of the upper limb	387733	IFITM5	OMIM:610967
HP:0002817	Abnormality of the upper limb	23114	NFASC	OMIM:618356
HP:0002817	Abnormality of the upper limb	3187	HNRNPH1	OMIM:620083
HP:0002817	Abnormality of the upper limb	8506	CNTNAP1	OMIM:618186
HP:0002817	Abnormality of the upper limb	1020	CDK5	OMIM:616342
HP:0002817	Abnormality of the upper limb	56006	SMG9	OMIM:616920
HP:0002817	Abnormality of the upper limb	1861	TOR1A	OMIM:618947
HP:0002817	Abnormality of the upper limb	55681	SCYL2	OMIM:618766
HP:0002817	Abnormality of the upper limb	7841	MOGS	OMIM:606056
HP:0002817	Abnormality of the upper limb	2581	GALC	ORPHA:206436
HP:0002817	Abnormality of the upper limb	5660	PSAP	ORPHA:206436
HP:0002817	Abnormality of the upper limb	2898	GRIK2	OMIM:619580
HP:0002817	Abnormality of the upper limb	57498	KIDINS220	OMIM:619501
HP:0002817	Abnormality of the upper limb	80816	ASXL3	OMIM:615485
HP:0002817	Abnormality of the upper limb	84342	COG8	OMIM:611182
HP:0002817	Abnormality of the upper limb	6536	SLC6A9	OMIM:617301
HP:0002817	Abnormality of the upper limb	51741	WWOX	OMIM:616211
HP:0002817	Abnormality of the upper limb	84162	BLTP1	OMIM:617822
HP:0002817	Abnormality of the upper limb	667	DST	OMIM:614653
HP:0002817	Abnormality of the upper limb	2782	GNB1	OMIM:616973
HP:0002817	Abnormality of the upper limb	3897	L1CAM	ORPHA:2466
HP:0002817	Abnormality of the upper limb	529	ATP6V1E1	OMIM:617402
HP:0002817	Abnormality of the upper limb	4654	MYOD1	OMIM:618975
HP:0002817	Abnormality of the upper limb	54676	GTPBP2	OMIM:617988
HP:0002817	Abnormality of the upper limb	4137	MAPT	ORPHA:240103
HP:0002817	Abnormality of the upper limb	51199	NIN	OMIM:614851
HP:0002817	Abnormality of the upper limb	51199	NIN	ORPHA:319675
HP:0002817	Abnormality of the upper limb	3909	LAMA3	ORPHA:79404
HP:0002817	Abnormality of the upper limb	3918	LAMC2	ORPHA:79404
HP:0002817	Abnormality of the upper limb	3914	LAMB3	ORPHA:79404
HP:0002817	Abnormality of the upper limb	1105	CHD1	ORPHA:529965
HP:0002817	Abnormality of the upper limb	10269	ZMPSTE24	ORPHA:90154
HP:0002817	Abnormality of the upper limb	5063	PAK3	OMIM:300558
HP:0002817	Abnormality of the upper limb	6228	RPS23	OMIM:617412
HP:0002817	Abnormality of the upper limb	55628	ZNF407	OMIM:619557
HP:0002817	Abnormality of the upper limb	91461	PKDCC	OMIM:618821
HP:0002817	Abnormality of the upper limb	11133	KPTN	OMIM:615637
HP:0002817	Abnormality of the upper limb	4076	CAPRIN1	OMIM:620782
HP:0002817	Abnormality of the upper limb	93986	FOXP2	ORPHA:251061
HP:0002817	Abnormality of the upper limb	27086	FOXP1	ORPHA:391372
HP:0002817	Abnormality of the upper limb	28952	CCDC22	OMIM:300963
HP:0002817	Abnormality of the upper limb	83479	DDX59	OMIM:174300
HP:0002817	Abnormality of the upper limb	7025	NR2F1	OMIM:615722
HP:0002817	Abnormality of the upper limb	23065	EMC1	ORPHA:480898
HP:0002817	Abnormality of the upper limb	23065	EMC1	OMIM:616875
HP:0002817	Abnormality of the upper limb	4131	MAP1B	OMIM:618918
HP:0002817	Abnormality of the upper limb	57492	ARID1B	OMIM:135900
HP:0002817	Abnormality of the upper limb	1822	ATN1	OMIM:618494
HP:0002817	Abnormality of the upper limb	23036	ZNF292	OMIM:619188
HP:0002817	Abnormality of the upper limb	3188	HNRNPH2	OMIM:300986
HP:0002817	Abnormality of the upper limb	3720	JARID2	OMIM:620098
HP:0002817	Abnormality of the upper limb	8720	MBTPS1	OMIM:618392
HP:0002817	Abnormality of the upper limb	55325	UFSP2	OMIM:617974
HP:0002817	Abnormality of the upper limb	10216	PRG4	ORPHA:2848
HP:0002817	Abnormality of the upper limb	7030	TFE3	OMIM:301066
HP:0002817	Abnormality of the upper limb	9742	IFT140	OMIM:266920
HP:0002817	Abnormality of the upper limb	1788	DNMT3A	OMIM:618724
HP:0002817	Abnormality of the upper limb	79796	ALG9	ORPHA:79328
HP:0002817	Abnormality of the upper limb	3835	KIF22	ORPHA:93360
HP:0002817	Abnormality of the upper limb	4784	NFIX	OMIM:602535
HP:0002817	Abnormality of the upper limb	83696	TRAPPC9	OMIM:613192
HP:0002817	Abnormality of the upper limb	1281	COL3A1	OMIM:618343
HP:0002817	Abnormality of the upper limb	23162	MAPK8IP3	OMIM:618443
HP:0002817	Abnormality of the upper limb	113189	CHST14	ORPHA:2953
HP:0002817	Abnormality of the upper limb	29940	DSE	ORPHA:2953
HP:0002817	Abnormality of the upper limb	546	ATRX	OMIM:309580
HP:0002817	Abnormality of the upper limb	8239	USP9X	ORPHA:480880
HP:0002817	Abnormality of the upper limb	10973	ASCC3	OMIM:620700
HP:0002817	Abnormality of the upper limb	284058	KANSL1	OMIM:610443
HP:0002817	Abnormality of the upper limb	1291	COL6A1	ORPHA:75840
HP:0002817	Abnormality of the upper limb	1292	COL6A2	ORPHA:75840
HP:0002817	Abnormality of the upper limb	1293	COL6A3	ORPHA:75840
HP:0002817	Abnormality of the upper limb	3955	LFNG	OMIM:609813
HP:0002817	Abnormality of the upper limb	10479	SLC9A6	OMIM:300243
HP:0002817	Abnormality of the upper limb	9578	CDC42BPB	OMIM:619841
HP:0002817	Abnormality of the upper limb	29998	BICRA	OMIM:619325
HP:0002817	Abnormality of the upper limb	10525	HYOU1	OMIM:233600
HP:0002817	Abnormality of the upper limb	55690	PACS1	ORPHA:329224
HP:0002817	Abnormality of the upper limb	2783	GNB2	OMIM:619503
HP:0002817	Abnormality of the upper limb	93587	TRMT10A	ORPHA:391408
HP:0002817	Abnormality of the upper limb	84919	PPP1R15B	ORPHA:391408
HP:0002817	Abnormality of the upper limb	4548	MTR	OMIM:250940
HP:0002817	Abnormality of the upper limb	9343	EFTUD2	OMIM:610536
HP:0002817	Abnormality of the upper limb	7175	TPR	OMIM:620393
HP:0002817	Abnormality of the upper limb	29895	MYL11	OMIM:619110
HP:0002817	Abnormality of the upper limb	84570	COL25A1	ORPHA:1143
HP:0002817	Abnormality of the upper limb	57222	ERGIC1	ORPHA:1143
HP:0002817	Abnormality of the upper limb	2201	FBN2	OMIM:121050
HP:0002817	Abnormality of the upper limb	8449	DHX16	OMIM:618733
HP:0002817	Abnormality of the upper limb	2067	ERCC1	OMIM:610758
HP:0002817	Abnormality of the upper limb	9775	EIF4A3	OMIM:268305
HP:0002817	Abnormality of the upper limb	121512	FGD4	OMIM:609311
HP:0002817	Abnormality of the upper limb	10060	ABCC9	OMIM:619719
HP:0002817	Abnormality of the upper limb	83737	ITCH	OMIM:613385
HP:0002817	Abnormality of the upper limb	57104	PNPLA2	ORPHA:565612
HP:0002817	Abnormality of the upper limb	1756	DMD	ORPHA:206546
HP:0002817	Abnormality of the upper limb	6329	SCN4A	ORPHA:98913
HP:0002817	Abnormality of the upper limb	1134	CHRNA1	ORPHA:98913
HP:0002817	Abnormality of the upper limb	4038	LRP4	ORPHA:98913
HP:0002817	Abnormality of the upper limb	1305	COL13A1	ORPHA:98913
HP:0002817	Abnormality of the upper limb	1140	CHRNB1	ORPHA:98913
HP:0002817	Abnormality of the upper limb	1144	CHRND	ORPHA:98913
HP:0002817	Abnormality of the upper limb	1145	CHRNE	ORPHA:98913
HP:0002817	Abnormality of the upper limb	4593	MUSK	ORPHA:98913
HP:0002817	Abnormality of the upper limb	5913	RAPSN	ORPHA:98913
HP:0002817	Abnormality of the upper limb	375790	AGRN	ORPHA:98913
HP:0002817	Abnormality of the upper limb	221264	AK9	ORPHA:98913
HP:0002817	Abnormality of the upper limb	285489	DOK7	ORPHA:98913
HP:0002817	Abnormality of the upper limb	54187	NANS	OMIM:610442
HP:0002817	Abnormality of the upper limb	4810	NHS	OMIM:302350
HP:0002817	Abnormality of the upper limb	4882	NPR2	OMIM:602875
HP:0002817	Abnormality of the upper limb	6197	RPS6KA3	ORPHA:192
HP:0002817	Abnormality of the upper limb	1499	CTNNB1	OMIM:615075
HP:0002817	Abnormality of the upper limb	23126	POGZ	OMIM:616364
HP:0002817	Abnormality of the upper limb	80204	FBXO11	OMIM:618089
HP:0002817	Abnormality of the upper limb	9181	ARHGEF2	OMIM:617523
HP:0002817	Abnormality of the upper limb	93627	TBCK	ORPHA:488632
HP:0002817	Abnormality of the upper limb	93627	TBCK	OMIM:616900
HP:0002817	Abnormality of the upper limb	3248	HPGD	ORPHA:217059
HP:0002817	Abnormality of the upper limb	5593	PRKG2	OMIM:619636
HP:0002817	Abnormality of the upper limb	6792	CDKL5	ORPHA:1934
HP:0002817	Abnormality of the upper limb	9091	PIGQ	ORPHA:1934
HP:0002817	Abnormality of the upper limb	140679	SLC32A1	ORPHA:1934
HP:0002817	Abnormality of the upper limb	2775	GNAO1	ORPHA:1934
HP:0002817	Abnormality of the upper limb	81603	TRIM8	ORPHA:1934
HP:0002817	Abnormality of the upper limb	2902	GRIN1	ORPHA:1934
HP:0002817	Abnormality of the upper limb	79751	SLC25A22	ORPHA:1934
HP:0002817	Abnormality of the upper limb	150094	SIK1	ORPHA:1934
HP:0002817	Abnormality of the upper limb	8573	CASK	ORPHA:1934
HP:0002817	Abnormality of the upper limb	23312	DMXL2	ORPHA:1934
HP:0002817	Abnormality of the upper limb	2917	GRM7	ORPHA:1934
HP:0002817	Abnormality of the upper limb	170302	ARX	ORPHA:1934
HP:0002817	Abnormality of the upper limb	11284	PNKP	ORPHA:1934
HP:0002817	Abnormality of the upper limb	6326	SCN2A	ORPHA:1934
HP:0002817	Abnormality of the upper limb	51227	PIGP	ORPHA:1934
HP:0002817	Abnormality of the upper limb	6324	SCN1B	ORPHA:1934
HP:0002817	Abnormality of the upper limb	4761	NEUROD2	ORPHA:1934
HP:0002817	Abnormality of the upper limb	11146	GLMN	ORPHA:83454
HP:0002817	Abnormality of the upper limb	5921	RASA1	ORPHA:90307
HP:0002817	Abnormality of the upper limb	10274	STAG1	ORPHA:502434
HP:0002817	Abnormality of the upper limb	672	BRCA1	ORPHA:84
HP:0002817	Abnormality of the upper limb	10459	MAD2L2	ORPHA:84
HP:0002817	Abnormality of the upper limb	7516	XRCC2	ORPHA:84
HP:0002817	Abnormality of the upper limb	29089	UBE2T	ORPHA:84
HP:0002817	Abnormality of the upper limb	675	BRCA2	ORPHA:84
HP:0002817	Abnormality of the upper limb	55120	FANCL	ORPHA:84
HP:0002817	Abnormality of the upper limb	2177	FANCD2	ORPHA:84
HP:0002817	Abnormality of the upper limb	2175	FANCA	ORPHA:84
HP:0002817	Abnormality of the upper limb	2187	FANCB	ORPHA:84
HP:0002817	Abnormality of the upper limb	2176	FANCC	ORPHA:84
HP:0002817	Abnormality of the upper limb	2178	FANCE	ORPHA:84
HP:0002817	Abnormality of the upper limb	2188	FANCF	ORPHA:84
HP:0002817	Abnormality of the upper limb	2189	FANCG	ORPHA:84
HP:0002817	Abnormality of the upper limb	5888	RAD51	ORPHA:84
HP:0002817	Abnormality of the upper limb	5889	RAD51C	ORPHA:84
HP:0002817	Abnormality of the upper limb	55159	RFWD3	ORPHA:84
HP:0002817	Abnormality of the upper limb	83990	BRIP1	ORPHA:84
HP:0002817	Abnormality of the upper limb	57697	FANCM	ORPHA:84
HP:0002817	Abnormality of the upper limb	79728	PALB2	ORPHA:84
HP:0002817	Abnormality of the upper limb	84464	SLX4	ORPHA:84
HP:0002817	Abnormality of the upper limb	2072	ERCC4	ORPHA:84
HP:0002817	Abnormality of the upper limb	55215	FANCI	ORPHA:84
HP:0002817	Abnormality of the upper limb	157570	ESCO2	ORPHA:3103
HP:0002817	Abnormality of the upper limb	2776	GNAQ	ORPHA:624
HP:0002817	Abnormality of the upper limb	64093	SMOC1	ORPHA:1106
HP:0002817	Abnormality of the upper limb	6138	RPL15	ORPHA:124
HP:0002817	Abnormality of the upper limb	6224	RPS20	ORPHA:124
HP:0002817	Abnormality of the upper limb	6165	RPL35A	ORPHA:124
HP:0002817	Abnormality of the upper limb	6132	RPL8	ORPHA:124
HP:0002817	Abnormality of the upper limb	6223	RPS19	ORPHA:124
HP:0002817	Abnormality of the upper limb	6232	RPS27	ORPHA:124
HP:0002817	Abnormality of the upper limb	55027	HEATR3	ORPHA:124
HP:0002817	Abnormality of the upper limb	6160	RPL31	ORPHA:124
HP:0002817	Abnormality of the upper limb	6201	RPS7	ORPHA:124
HP:0002817	Abnormality of the upper limb	6155	RPL27	ORPHA:124
HP:0002817	Abnormality of the upper limb	6234	RPS28	ORPHA:124
HP:0002817	Abnormality of the upper limb	6135	RPL11	ORPHA:124
HP:0002817	Abnormality of the upper limb	6229	RPS24	ORPHA:124
HP:0002817	Abnormality of the upper limb	6125	RPL5	ORPHA:124
HP:0002817	Abnormality of the upper limb	6204	RPS10	ORPHA:124
HP:0002817	Abnormality of the upper limb	2623	GATA1	ORPHA:124
HP:0002817	Abnormality of the upper limb	6133	RPL9	ORPHA:124
HP:0002817	Abnormality of the upper limb	6231	RPS26	ORPHA:124
HP:0002817	Abnormality of the upper limb	11224	RPL35	ORPHA:124
HP:0002817	Abnormality of the upper limb	6218	RPS17	ORPHA:124
HP:0002817	Abnormality of the upper limb	6154	RPL26	ORPHA:124
HP:0002817	Abnormality of the upper limb	6210	RPS15A	ORPHA:124
HP:0002817	Abnormality of the upper limb	90121	TSR2	ORPHA:124
HP:0002817	Abnormality of the upper limb	6141	RPL18	ORPHA:124
HP:0002817	Abnormality of the upper limb	6235	RPS29	ORPHA:124
HP:0002817	Abnormality of the upper limb	51816	ADA2	ORPHA:124
HP:0002817	Abnormality of the upper limb	9184	BUB3	ORPHA:1052
HP:0002817	Abnormality of the upper limb	699	BUB1	ORPHA:1052
HP:0002817	Abnormality of the upper limb	9702	CEP57	ORPHA:1052
HP:0002817	Abnormality of the upper limb	9319	TRIP13	ORPHA:1052
HP:0002817	Abnormality of the upper limb	701	BUB1B	ORPHA:1052
HP:0002817	Abnormality of the upper limb	65250	CPLANE1	ORPHA:65684
HP:0002817	Abnormality of the upper limb	57562	CEP126	ORPHA:65684
HP:0002817	Abnormality of the upper limb	3516	RBPJ	ORPHA:974
HP:0002817	Abnormality of the upper limb	4851	NOTCH1	ORPHA:974
HP:0002817	Abnormality of the upper limb	57514	ARHGAP31	ORPHA:974
HP:0002817	Abnormality of the upper limb	57572	DOCK6	ORPHA:974
HP:0002817	Abnormality of the upper limb	285203	EOGT	ORPHA:974
HP:0002817	Abnormality of the upper limb	54567	DLL4	ORPHA:974
HP:0002817	Abnormality of the upper limb	5077	PAX3	ORPHA:896
HP:0002817	Abnormality of the upper limb	2767	GNA11	ORPHA:1556
HP:0002817	Abnormality of the upper limb	151188	ARL6IP6	ORPHA:1556
HP:0002817	Abnormality of the upper limb	10082	GPC6	ORPHA:93329
HP:0002817	Abnormality of the upper limb	6424	SFRP4	OMIM:265900
HP:0002817	Abnormality of the upper limb	8216	LZTR1	OMIM:616564
HP:0002817	Abnormality of the upper limb	8216	LZTR1	OMIM:605275
HP:0002817	Abnormality of the upper limb	54361	WNT4	ORPHA:247768
HP:0002817	Abnormality of the upper limb	5828	PEX2	OMIM:614866
HP:0002817	Abnormality of the upper limb	57122	NUP107	OMIM:618348
HP:0002817	Abnormality of the upper limb	23529	CLCF1	OMIM:610313
HP:0002817	Abnormality of the upper limb	55717	WDR11	OMIM:620237
HP:0002817	Abnormality of the upper limb	10940	POP1	OMIM:617396
HP:0002817	Abnormality of the upper limb	54496	PRMT7	OMIM:617157
HP:0002817	Abnormality of the upper limb	92255	LMBRD2	OMIM:619694
HP:0002817	Abnormality of the upper limb	444	ASPH	OMIM:601552
HP:0002817	Abnormality of the upper limb	5566	PRKACA	ORPHA:289
HP:0002817	Abnormality of the upper limb	5567	PRKACB	ORPHA:289
HP:0002817	Abnormality of the upper limb	2735	GLI1	ORPHA:289
HP:0002817	Abnormality of the upper limb	51626	DYNC2LI1	ORPHA:289
HP:0002817	Abnormality of the upper limb	23395	LARS2	OMIM:615300
HP:0002817	Abnormality of the upper limb	6736	SRY	ORPHA:1772
HP:0002817	Abnormality of the upper limb	6654	SOS1	OMIM:610733
HP:0002817	Abnormality of the upper limb	10743	RAI1	OMIM:182290
HP:0002817	Abnormality of the upper limb	1294	COL7A1	ORPHA:89843
HP:0002817	Abnormality of the upper limb	11285	B4GALT7	OMIM:130070
HP:0002817	Abnormality of the upper limb	4091	SMAD6	OMIM:179300
HP:0002817	Abnormality of the upper limb	5648	MASP1	OMIM:257920
HP:0002817	Abnormality of the upper limb	5648	MASP1	ORPHA:293843
HP:0002817	Abnormality of the upper limb	6804	STX1A	ORPHA:904
HP:0002817	Abnormality of the upper limb	7461	CLIP2	ORPHA:904
HP:0002817	Abnormality of the upper limb	84277	DNAJC30	ORPHA:904
HP:0002817	Abnormality of the upper limb	8468	FKBP6	ORPHA:904
HP:0002817	Abnormality of the upper limb	5982	RFC2	ORPHA:904
HP:0002817	Abnormality of the upper limb	2969	GTF2I	ORPHA:904
HP:0002817	Abnormality of the upper limb	3984	LIMK1	ORPHA:904
HP:0002817	Abnormality of the upper limb	9569	GTF2IRD1	ORPHA:904
HP:0002817	Abnormality of the upper limb	155382	VPS37D	ORPHA:904
HP:0002817	Abnormality of the upper limb	155368	METTL27	ORPHA:904
HP:0002817	Abnormality of the upper limb	114049	BUD23	ORPHA:904
HP:0002817	Abnormality of the upper limb	7458	EIF4H	ORPHA:904
HP:0002817	Abnormality of the upper limb	84163	GTF2IRD2	ORPHA:904
HP:0002817	Abnormality of the upper limb	26608	TBL2	ORPHA:904
HP:0002817	Abnormality of the upper limb	653361	NCF1	ORPHA:904
HP:0002817	Abnormality of the upper limb	135886	TMEM270	ORPHA:904
HP:0002817	Abnormality of the upper limb	9031	BAZ1B	ORPHA:904
HP:0002817	Abnormality of the upper limb	2006	ELN	ORPHA:904
HP:0002817	Abnormality of the upper limb	2006	ELN	OMIM:194050
HP:0002817	Abnormality of the upper limb	2122	MECOM	ORPHA:71289
HP:0002817	Abnormality of the upper limb	2122	MECOM	OMIM:616738
HP:0002817	Abnormality of the upper limb	1723	DHODH	OMIM:263750
HP:0002817	Abnormality of the upper limb	51085	MLXIPL	OMIM:194050
HP:0002817	Abnormality of the upper limb	10584	COLEC10	OMIM:248340
HP:0002817	Abnormality of the upper limb	10584	COLEC10	ORPHA:293843
HP:0002817	Abnormality of the upper limb	50945	TBX22	OMIM:302905
HP:0002817	Abnormality of the upper limb	50945	TBX22	ORPHA:921
HP:0002817	Abnormality of the upper limb	22800	RRAS2	ORPHA:648
HP:0002817	Abnormality of the upper limb	6016	RIT1	ORPHA:648
HP:0002817	Abnormality of the upper limb	6237	RRAS	ORPHA:648
HP:0002817	Abnormality of the upper limb	22808	MRAS	ORPHA:648
HP:0002817	Abnormality of the upper limb	6655	SOS2	ORPHA:648
HP:0002817	Abnormality of the upper limb	5922	RASA2	ORPHA:648
HP:0002817	Abnormality of the upper limb	26229	B3GAT3	OMIM:245600
HP:0002817	Abnormality of the upper limb	26040	SETBP1	ORPHA:798
HP:0002817	Abnormality of the upper limb	28981	IFT81	OMIM:617895
HP:0002817	Abnormality of the upper limb	92002	CCNQ	ORPHA:140952
HP:0002817	Abnormality of the upper limb	8241	RBM10	OMIM:311900
HP:0002817	Abnormality of the upper limb	8074	FGF23	OMIM:617993
HP:0002817	Abnormality of the upper limb	91147	TMEM67	OMIM:602152
HP:0002817	Abnormality of the upper limb	567	B2M	OMIM:241600
HP:0002817	Abnormality of the upper limb	112752	IFT43	OMIM:617866
HP:0002817	Abnormality of the upper limb	5116	PCNT	OMIM:210720
HP:0002817	Abnormality of the upper limb	3207	HOXA11	OMIM:605432
HP:0002817	Abnormality of the upper limb	64175	P3H1	OMIM:610915
HP:0002817	Abnormality of the upper limb	83932	SPRTN	OMIM:616200
HP:0002817	Abnormality of the upper limb	5352	PLOD2	OMIM:609220
HP:0002817	Abnormality of the upper limb	5831	PYCR1	OMIM:614438
HP:0002817	Abnormality of the upper limb	127833	SYT2	OMIM:619461
HP:0002817	Abnormality of the upper limb	4632	MYL1	OMIM:618414
HP:0002817	Abnormality of the upper limb	9051	PSTPIP1	OMIM:604416
HP:0002817	Abnormality of the upper limb	84065	TMEM222	OMIM:619470
HP:0002817	Abnormality of the upper limb	2222	FDFT1	OMIM:618156
HP:0002817	Abnormality of the upper limb	5286	PIK3C2A	OMIM:618440
HP:0002817	Abnormality of the upper limb	7317	UBA1	ORPHA:1145
HP:0002817	Abnormality of the upper limb	64116	SLC39A8	ORPHA:468699
HP:0002817	Abnormality of the upper limb	8815	BANF1	OMIM:614008
HP:0002817	Abnormality of the upper limb	78989	COLEC11	OMIM:265050
HP:0002817	Abnormality of the upper limb	9427	ECEL1	OMIM:615065
HP:0002817	Abnormality of the upper limb	9935	MAFB	ORPHA:2774
HP:0002817	Abnormality of the upper limb	9241	NOG	ORPHA:3250
HP:0002817	Abnormality of the upper limb	8200	GDF5	ORPHA:3250
HP:0002817	Abnormality of the upper limb	7421	VDR	OMIM:277440
HP:0002817	Abnormality of the upper limb	120227	CYP2R1	OMIM:600081
HP:0002817	Abnormality of the upper limb	120227	CYP2R1	ORPHA:289157
HP:0002817	Abnormality of the upper limb	1594	CYP27B1	OMIM:264700
HP:0002817	Abnormality of the upper limb	1594	CYP27B1	ORPHA:289157
HP:0002817	Abnormality of the upper limb	1184	CLCN5	OMIM:300554
HP:0002817	Abnormality of the upper limb	1184	CLCN5	OMIM:300009
HP:0002817	Abnormality of the upper limb	1758	DMP1	ORPHA:289176
HP:0002817	Abnormality of the upper limb	5167	ENPP1	ORPHA:289176
HP:0002817	Abnormality of the upper limb	142680	SLC34A3	OMIM:241530
HP:0002817	Abnormality of the upper limb	57020	VPS35L	OMIM:619135
HP:0002817	Abnormality of the upper limb	54101	RIPK4	OMIM:263650
HP:0002817	Abnormality of the upper limb	56603	CYP26B1	OMIM:614416
HP:0002817	Abnormality of the upper limb	347734	SLC35B2	OMIM:620269
HP:0002817	Abnormality of the upper limb	81620	CDT1	ORPHA:2554
HP:0002817	Abnormality of the upper limb	5000	ORC4	ORPHA:2554
HP:0002817	Abnormality of the upper limb	23594	ORC6	ORPHA:2554
HP:0002817	Abnormality of the upper limb	8318	CDC45	ORPHA:2554
HP:0002817	Abnormality of the upper limb	990	CDC6	ORPHA:2554
HP:0002817	Abnormality of the upper limb	990	CDC6	OMIM:613805
HP:0002817	Abnormality of the upper limb	51053	GMNN	ORPHA:2554
HP:0002817	Abnormality of the upper limb	23387	SIK3	OMIM:618162
HP:0002817	Abnormality of the upper limb	5881	RAC3	OMIM:618577
HP:0002817	Abnormality of the upper limb	2720	GLB1	OMIM:253010
HP:0002817	Abnormality of the upper limb	2588	GALNS	OMIM:253000
HP:0002817	Abnormality of the upper limb	9203	ZMYM3	OMIM:301111
HP:0002817	Abnormality of the upper limb	6662	SOX9	OMIM:114290
HP:0002817	Abnormality of the upper limb	3899	AFF3	OMIM:619297
HP:0002817	Abnormality of the upper limb	341208	HEPHL1	OMIM:261990
HP:0002817	Abnormality of the upper limb	3710	ITPR3	OMIM:620111
HP:0002817	Abnormality of the upper limb	8729	GBF1	OMIM:606483
HP:0002817	Abnormality of the upper limb	291	SLC25A4	ORPHA:254892
HP:0002817	Abnormality of the upper limb	56652	TWNK	ORPHA:254892
HP:0002817	Abnormality of the upper limb	11232	POLG2	ORPHA:254892
HP:0002817	Abnormality of the upper limb	1410	CRYAB	OMIM:608810
HP:0002817	Abnormality of the upper limb	79147	FKRP	OMIM:606612
HP:0002817	Abnormality of the upper limb	79147	FKRP	ORPHA:34515
HP:0002817	Abnormality of the upper limb	79147	FKRP	OMIM:607155
HP:0002817	Abnormality of the upper limb	729359	PLIN4	OMIM:601846
HP:0002817	Abnormality of the upper limb	55791	LRIF1	OMIM:619477
HP:0002817	Abnormality of the upper limb	1763	DNA2	OMIM:615156
HP:0002817	Abnormality of the upper limb	51099	ABHD5	ORPHA:98907
HP:0002817	Abnormality of the upper limb	22954	TRIM32	OMIM:254110
HP:0002817	Abnormality of the upper limb	1073	CFL2	OMIM:610687
HP:0002817	Abnormality of the upper limb	4625	MYH7	OMIM:608358
HP:0002817	Abnormality of the upper limb	7138	TNNT1	OMIM:620389
HP:0002817	Abnormality of the upper limb	6606	SMN1	OMIM:253400
HP:0002817	Abnormality of the upper limb	6607	SMN2	OMIM:253400
HP:0002817	Abnormality of the upper limb	10020	GNE	ORPHA:602
HP:0002817	Abnormality of the upper limb	10049	DNAJB6	OMIM:603511
HP:0002817	Abnormality of the upper limb	9499	MYOT	ORPHA:266
HP:0002817	Abnormality of the upper limb	57190	SELENON	ORPHA:2020
HP:0002817	Abnormality of the upper limb	4633	MYL2	ORPHA:2020
HP:0002817	Abnormality of the upper limb	3679	ITGA7	ORPHA:2020
HP:0002817	Abnormality of the upper limb	9200	HACD1	ORPHA:2020
HP:0002817	Abnormality of the upper limb	7170	TPM3	ORPHA:2020
HP:0002817	Abnormality of the upper limb	23534	TNPO3	OMIM:608423
HP:0002817	Abnormality of the upper limb	9987	HNRNPDL	OMIM:609115
HP:0002817	Abnormality of the upper limb	79912	PYROXD1	OMIM:617258
HP:0002817	Abnormality of the upper limb	253738	EBF3	ORPHA:96148
HP:0002817	Abnormality of the upper limb	825	CAPN3	OMIM:253600
HP:0002817	Abnormality of the upper limb	825	CAPN3	ORPHA:267
HP:0002817	Abnormality of the upper limb	825	CAPN3	OMIM:618129
HP:0002817	Abnormality of the upper limb	6442	SGCA	OMIM:608099
HP:0002817	Abnormality of the upper limb	6442	SGCA	ORPHA:62
HP:0002817	Abnormality of the upper limb	6443	SGCB	OMIM:604286
HP:0002817	Abnormality of the upper limb	6263	RYR3	OMIM:620310
HP:0002817	Abnormality of the upper limb	25778	DSTYK	OMIM:270750
HP:0002817	Abnormality of the upper limb	2673	GFPT1	ORPHA:353327
HP:0002817	Abnormality of the upper limb	1798	DPAGT1	ORPHA:353327
HP:0002817	Abnormality of the upper limb	85365	ALG2	ORPHA:353327
HP:0002817	Abnormality of the upper limb	85365	ALG2	OMIM:616228
HP:0002817	Abnormality of the upper limb	199857	ALG14	ORPHA:353327
HP:0002817	Abnormality of the upper limb	10059	DNM1L	ORPHA:98673
HP:0002817	Abnormality of the upper limb	4976	OPA1	ORPHA:98673
HP:0002817	Abnormality of the upper limb	6444	SGCD	OMIM:601287
HP:0002817	Abnormality of the upper limb	6444	SGCD	ORPHA:219
HP:0002817	Abnormality of the upper limb	55870	ASH1L	OMIM:617796
HP:0002817	Abnormality of the upper limb	2138	EYA1	ORPHA:2792
HP:0002817	Abnormality of the upper limb	2138	EYA1	OMIM:166780
HP:0002817	Abnormality of the upper limb	5075	PAX1	ORPHA:2792
HP:0002817	Abnormality of the upper limb	5075	PAX1	OMIM:615560
HP:0002817	Abnormality of the upper limb	10558	SPTLC1	OMIM:620285
HP:0002817	Abnormality of the upper limb	4620	MYH2	OMIM:605637
HP:0002817	Abnormality of the upper limb	80324	PUS1	OMIM:600462
HP:0002817	Abnormality of the upper limb	83636	C19orf12	OMIM:614298
HP:0002817	Abnormality of the upper limb	23545	ATP6V0A2	OMIM:278250
HP:0002817	Abnormality of the upper limb	200734	SPRED2	OMIM:619745
HP:0002817	Abnormality of the upper limb	9531	BAG3	OMIM:612954
HP:0002817	Abnormality of the upper limb	6445	SGCG	ORPHA:353
HP:0002817	Abnormality of the upper limb	84665	MYPN	OMIM:617336
HP:0002817	Abnormality of the upper limb	84665	MYPN	ORPHA:171439
HP:0002817	Abnormality of the upper limb	5781	PTPN11	ORPHA:500
HP:0002817	Abnormality of the upper limb	5781	PTPN11	OMIM:151100
HP:0002817	Abnormality of the upper limb	673	BRAF	ORPHA:500
HP:0002817	Abnormality of the upper limb	5894	RAF1	ORPHA:500
HP:0002817	Abnormality of the upper limb	10220	GDF11	OMIM:619122
HP:0002817	Abnormality of the upper limb	163175	LGI4	OMIM:617468
HP:0002817	Abnormality of the upper limb	11117	EMILIN1	OMIM:620080
HP:0002817	Abnormality of the upper limb	57479	PRR12	OMIM:619539
HP:0002817	Abnormality of the upper limb	390594	KBTBD13	ORPHA:171439
HP:0002817	Abnormality of the upper limb	10324	KLHL41	ORPHA:171439
HP:0002817	Abnormality of the upper limb	29954	POMT2	ORPHA:206559
HP:0002817	Abnormality of the upper limb	27145	FILIP1	OMIM:620775
HP:0002817	Abnormality of the upper limb	4148	MATN3	ORPHA:93311
HP:0002817	Abnormality of the upper limb	6137	RPL13	OMIM:618728
HP:0002817	Abnormality of the upper limb	6399	TRAPPC2	ORPHA:93284
HP:0002817	Abnormality of the upper limb	5251	PHEX	ORPHA:89936
HP:0002817	Abnormality of the upper limb	83550	GPR101	ORPHA:963
HP:0002817	Abnormality of the upper limb	9049	AIP	ORPHA:963
HP:0002817	Abnormality of the upper limb	649	BMP1	OMIM:614856
HP:0002817	Abnormality of the upper limb	90993	CREB3L1	OMIM:616229
HP:0002817	Abnormality of the upper limb	3930	LBR	OMIM:618019
HP:0002817	Abnormality of the upper limb	2317	FLNB	OMIM:272460
HP:0002817	Abnormality of the upper limb	6678	SPARC	OMIM:616507
HP:0002817	Abnormality of the upper limb	9851	KIAA0753	OMIM:619479
HP:0002817	Abnormality of the upper limb	3911	LAMA5	OMIM:620076
HP:0002817	Abnormality of the upper limb	340419	RSPO2	OMIM:618022
HP:0002817	Abnormality of the upper limb	26175	LYSET	OMIM:619345
HP:0002817	Abnormality of the upper limb	2778	GNAS	ORPHA:94089
HP:0002817	Abnormality of the upper limb	8675	STX16	ORPHA:94089
HP:0002817	Abnormality of the upper limb	368	ABCC6	ORPHA:51608
HP:0002817	Abnormality of the upper limb	2887	GRB10	ORPHA:96182
HP:0002817	Abnormality of the upper limb	1297	COL9A1	ORPHA:166002
HP:0002817	Abnormality of the upper limb	1298	COL9A2	ORPHA:166002
HP:0002817	Abnormality of the upper limb	1299	COL9A3	ORPHA:166002
HP:0002817	Abnormality of the upper limb	22858	CILK1	OMIM:612651
HP:0002817	Abnormality of the upper limb	8792	TNFRSF11A	OMIM:602080
HP:0002817	Abnormality of the upper limb	6638	SNRPN	ORPHA:177910
HP:0002817	Abnormality of the upper limb	4692	NDN	ORPHA:177910
HP:0002817	Abnormality of the upper limb	54551	MAGEL2	ORPHA:177910
HP:0002817	Abnormality of the upper limb	4318	MMP9	ORPHA:1040
HP:0002817	Abnormality of the upper limb	4322	MMP13	ORPHA:1040
HP:0002817	Abnormality of the upper limb	64682	ANAPC1	ORPHA:221008
HP:0002817	Abnormality of the upper limb	5980	REV3L	ORPHA:570
HP:0002817	Abnormality of the upper limb	23129	PLXND1	ORPHA:570
HP:0002817	Abnormality of the upper limb	1750	DLX6	ORPHA:2440
HP:0002817	Abnormality of the upper limb	7979	SEM1	ORPHA:2440
HP:0002817	Abnormality of the upper limb	8945	BTRC	ORPHA:2440
HP:0002817	Abnormality of the upper limb	58513	EPS15L1	ORPHA:2440
HP:0002817	Abnormality of the upper limb	6468	FBXW4	ORPHA:2440
HP:0002817	Abnormality of the upper limb	7480	WNT10B	ORPHA:2440
HP:0002817	Abnormality of the upper limb	1749	DLX5	ORPHA:2440
HP:0002817	Abnormality of the upper limb	1308	COL17A1	ORPHA:79406
HP:0002817	Abnormality of the upper limb	1308	COL17A1	ORPHA:251393
HP:0002817	Abnormality of the upper limb	4312	MMP1	ORPHA:79408
HP:0002817	Abnormality of the upper limb	1832	DSP	OMIM:609638
HP:0002817	Abnormality of the upper limb	3691	ITGB4	ORPHA:251393
HP:0002817	Abnormality of the upper limb	25871	NEPRO	OMIM:618853
HP:0002817	Abnormality of the upper limb	50964	SOST	OMIM:269500
HP:0002817	Abnormality of the upper limb	8481	OFD1	ORPHA:2750
HP:0002817	Abnormality of the upper limb	11253	MAN1B1	ORPHA:397941
HP:0002817	Abnormality of the upper limb	11253	MAN1B1	OMIM:614202
HP:0002817	Abnormality of the upper limb	340533	NEXMIF	OMIM:300912
HP:0002817	Abnormality of the upper limb	1139	CHRNA7	ORPHA:199318
HP:0002817	Abnormality of the upper limb	1139	CHRNA7	OMIM:612001
HP:0002817	Abnormality of the upper limb	6659	SOX4	OMIM:618506
HP:0002817	Abnormality of the upper limb	10054	UBA2	OMIM:619959
HP:0002817	Abnormality of the upper limb	51126	NAA20	OMIM:619717
HP:0002817	Abnormality of the upper limb	5927	KDM5A	OMIM:620820
HP:0002817	Abnormality of the upper limb	197131	UBR1	OMIM:243800
HP:0002817	Abnormality of the upper limb	5932	RBBP8	OMIM:606744
HP:0002817	Abnormality of the upper limb	5932	RBBP8	ORPHA:808
HP:0002817	Abnormality of the upper limb	4286	MITF	OMIM:617306
HP:0002817	Abnormality of the upper limb	9723	SEMA3E	ORPHA:138
HP:0002817	Abnormality of the upper limb	3190	HNRNPK	OMIM:616580
HP:0002817	Abnormality of the upper limb	25885	POLR1A	OMIM:616462
HP:0002817	Abnormality of the upper limb	10606	PAICS	OMIM:619859
HP:0002817	Abnormality of the upper limb	23327	NEDD4L	OMIM:617201
HP:0002817	Abnormality of the upper limb	57680	CHD8	OMIM:615032
HP:0002817	Abnormality of the upper limb	5048	PAFAH1B1	ORPHA:217385
HP:0002817	Abnormality of the upper limb	5048	PAFAH1B1	ORPHA:531
HP:0002817	Abnormality of the upper limb	7531	YWHAE	ORPHA:217385
HP:0002817	Abnormality of the upper limb	7531	YWHAE	ORPHA:531
HP:0002817	Abnormality of the upper limb	2550	GABBR1	OMIM:620502
HP:0002817	Abnormality of the upper limb	8364	H4C3	OMIM:619758
HP:0002817	Abnormality of the upper limb	5590	PRKCZ	ORPHA:1606
HP:0002817	Abnormality of the upper limb	2563	GABRD	ORPHA:1606
HP:0002817	Abnormality of the upper limb	8510	MMP23B	ORPHA:1606
HP:0002817	Abnormality of the upper limb	7798	LUZP1	ORPHA:1606
HP:0002817	Abnormality of the upper limb	10630	PDPN	ORPHA:1606
HP:0002817	Abnormality of the upper limb	10277	UBE4B	ORPHA:1606
HP:0002817	Abnormality of the upper limb	8514	KCNAB2	ORPHA:1606
HP:0002817	Abnormality of the upper limb	63976	PRDM16	ORPHA:1606
HP:0002817	Abnormality of the upper limb	54897	CASZ1	ORPHA:1606
HP:0002817	Abnormality of the upper limb	10533	ATG7	OMIM:619422
HP:0002817	Abnormality of the upper limb	8295	TRRAP	OMIM:618454
HP:0002817	Abnormality of the upper limb	3479	IGF1	ORPHA:73272
HP:0002817	Abnormality of the upper limb	3479	IGF1	OMIM:608747
HP:0002817	Abnormality of the upper limb	8473	OGT	OMIM:300997
HP:0002817	Abnormality of the upper limb	1725	DHPS	OMIM:618480
HP:0002817	Abnormality of the upper limb	4052	LTBP1	OMIM:619451
HP:0002817	Abnormality of the upper limb	8091	HMGA2	ORPHA:94063
HP:0002817	Abnormality of the upper limb	8091	HMGA2	ORPHA:397590
HP:0002817	Abnormality of the upper limb	23592	LEMD3	ORPHA:94063
HP:0002817	Abnormality of the upper limb	5283	PIGH	OMIM:618010
HP:0002817	Abnormality of the upper limb	50801	KCNK4	OMIM:618381
HP:0002817	Abnormality of the upper limb	57003	CCDC47	OMIM:618268
HP:0002817	Abnormality of the upper limb	5977	DPF2	OMIM:618027
HP:0002817	Abnormality of the upper limb	94005	PIGS	OMIM:618143
HP:0002817	Abnormality of the upper limb	1457	CSNK2A1	OMIM:617062
HP:0002817	Abnormality of the upper limb	90416	CCDC32	OMIM:619123
HP:0002817	Abnormality of the upper limb	22995	CEP152	OMIM:613823
HP:0002817	Abnormality of the upper limb	22995	CEP152	ORPHA:808
HP:0002817	Abnormality of the upper limb	3090	HIC1	ORPHA:531
HP:0002817	Abnormality of the upper limb	10436	EMG1	OMIM:211180
HP:0002817	Abnormality of the upper limb	10436	EMG1	ORPHA:1270
HP:0002817	Abnormality of the upper limb	79023	NUP37	OMIM:618179
HP:0002817	Abnormality of the upper limb	27161	AGO2	OMIM:619149
HP:0002817	Abnormality of the upper limb	221927	BRAT1	OMIM:618056
HP:0002817	Abnormality of the upper limb	8823	FGF16	OMIM:309630
HP:0002817	Abnormality of the upper limb	161742	SPRED1	ORPHA:137605
HP:0002817	Abnormality of the upper limb	7337	UBE3A	ORPHA:238446
HP:0002817	Abnormality of the upper limb	3728	JUP	ORPHA:158687
HP:0002817	Abnormality of the upper limb	23241	PACS2	OMIM:618067
HP:0002817	Abnormality of the upper limb	7518	XRCC4	ORPHA:99812
HP:0002817	Abnormality of the upper limb	8854	ALDH1A2	OMIM:620025
HP:0002817	Abnormality of the upper limb	54476	RNF216	ORPHA:1173
HP:0002817	Abnormality of the upper limb	55165	CEP55	OMIM:236500
HP:0002817	Abnormality of the upper limb	1028	CDKN1C	ORPHA:397590
HP:0002817	Abnormality of the upper limb	5324	PLAG1	ORPHA:397590
HP:0002817	Abnormality of the upper limb	5422	POLA1	ORPHA:163976
HP:0002817	Abnormality of the upper limb	5422	POLA1	OMIM:301030
HP:0002817	Abnormality of the upper limb	10430	TMEM147	OMIM:620075
HP:0002817	Abnormality of the upper limb	1482	NKX2-5	OMIM:187500
HP:0002817	Abnormality of the upper limb	1482	NKX2-5	ORPHA:3303
HP:0002817	Abnormality of the upper limb	23414	ZFPM2	OMIM:187500
HP:0002817	Abnormality of the upper limb	23414	ZFPM2	ORPHA:3303
HP:0002817	Abnormality of the upper limb	2627	GATA6	OMIM:187500
HP:0002817	Abnormality of the upper limb	2627	GATA6	ORPHA:3303
HP:0002817	Abnormality of the upper limb	79902	NUP85	ORPHA:808
HP:0002817	Abnormality of the upper limb	84126	ATRIP	ORPHA:808
HP:0002817	Abnormality of the upper limb	10293	TRAIP	ORPHA:808
HP:0002817	Abnormality of the upper limb	10733	PLK4	ORPHA:808
HP:0002817	Abnormality of the upper limb	4208	MEF2C	OMIM:613443
HP:0002817	Abnormality of the upper limb	129880	BBS5	OMIM:615983
HP:0002817	Abnormality of the upper limb	51621	KLF13	OMIM:612001
HP:0002817	Abnormality of the upper limb	137814	NKX2-6	ORPHA:3303
HP:0002817	Abnormality of the upper limb	3791	KDR	ORPHA:3303
HP:0002817	Abnormality of the upper limb	2657	GDF1	ORPHA:3303
HP:0002817	Abnormality of the upper limb	140628	GATA5	ORPHA:3303
HP:0002817	Abnormality of the upper limb	2324	FLT4	ORPHA:3303
HP:0002817	Abnormality of the upper limb	10370	CITED2	ORPHA:3303
HP:0002817	Abnormality of the upper limb	2334	AFF2	ORPHA:100973
HP:0002817	Abnormality of the upper limb	84679	SLC9A7	OMIM:301024
HP:0002817	Abnormality of the upper limb	10735	STAG2	OMIM:301022
HP:0002817	Abnormality of the upper limb	22931	RAB18	OMIM:614222
HP:0002817	Abnormality of the upper limb	54870	QRICH1	OMIM:617982
HP:0002817	Abnormality of the upper limb	1663	DDX11	OMIM:613398
HP:0002817	Abnormality of the upper limb	4848	CNOT2	OMIM:618608
HP:0002817	Abnormality of the upper limb	84148	KAT8	OMIM:618974
HP:0002817	Abnormality of the upper limb	84068	SLC10A7	OMIM:618363
HP:0002817	Abnormality of the upper limb	29072	SETD2	OMIM:616831
HP:0002817	Abnormality of the upper limb	23169	SLC35D1	OMIM:269250
HP:0002817	Abnormality of the upper limb	3480	IGF1R	ORPHA:73273
HP:0002817	Abnormality of the upper limb	22856	CHSY1	ORPHA:363417
HP:0002817	Abnormality of the upper limb	2879	GPX4	ORPHA:93317
HP:0002817	Abnormality of the upper limb	124997	WDR81	OMIM:610185
HP:0002817	Abnormality of the upper limb	9759	HDAC4	ORPHA:1001
HP:0002817	Abnormality of the upper limb	118429	ANTXR2	ORPHA:2176
HP:0002817	Abnormality of the upper limb	55777	MBD5	ORPHA:228402
HP:0002817	Abnormality of the upper limb	55777	MBD5	OMIM:156200
HP:0002817	Abnormality of the upper limb	100033413	SNORD116-1	OMIM:176270
HP:0002817	Abnormality of the upper limb	8924	HERC2	OMIM:176270
HP:0002817	Abnormality of the upper limb	23742	NPAP1	OMIM:176270
HP:0002817	Abnormality of the upper limb	338433	SNORD115-1	OMIM:176270
HP:0002817	Abnormality of the upper limb	7681	MKRN3	OMIM:176270
HP:0002817	Abnormality of the upper limb	145624	PWAR1	OMIM:176270
HP:0002817	Abnormality of the upper limb	3653	IPW	OMIM:176270
HP:0002817	Abnormality of the upper limb	791114	PWRN1	OMIM:176270
HP:0002817	Abnormality of the upper limb	55112	DYNC2I1	ORPHA:93271
HP:0002817	Abnormality of the upper limb	57539	WDR35	ORPHA:93271
HP:0002817	Abnormality of the upper limb	79659	DYNC2H1	ORPHA:93271
HP:0002817	Abnormality of the upper limb	89891	DYNC2I2	ORPHA:93271
HP:0002817	Abnormality of the upper limb	613	BCR	ORPHA:261330
HP:0002817	Abnormality of the upper limb	1399	CRKL	ORPHA:261330
HP:0002817	Abnormality of the upper limb	5594	MAPK1	ORPHA:261330
HP:0002817	Abnormality of the upper limb	23030	KDM4B	OMIM:619320
HP:0002817	Abnormality of the upper limb	79639	TMEM53	OMIM:619727
HP:0002817	Abnormality of the upper limb	55249	YY1AP1	ORPHA:79094
HP:0002817	Abnormality of the upper limb	4750	NEK1	OMIM:252100
HP:0002817	Abnormality of the upper limb	6023	RMRP	ORPHA:175
HP:0002817	Abnormality of the upper limb	6023	RMRP	OMIM:607095
HP:0002817	Abnormality of the upper limb	6023	RMRP	OMIM:250250
HP:0002817	Abnormality of the upper limb	818	CAMK2G	OMIM:618522
HP:0002817	Abnormality of the upper limb	23476	BRD4	OMIM:620568
HP:0002817	Abnormality of the upper limb	4054	LTBP3	ORPHA:969
HP:0002817	Abnormality of the upper limb	3759	KCNJ2	OMIM:170390
HP:0002817	Abnormality of the upper limb	222663	SCUBE3	OMIM:619184
HP:0002817	Abnormality of the upper limb	80311	KLHL15	OMIM:300982
HP:0002817	Abnormality of the upper limb	10943	MSL3	OMIM:301032
HP:0002817	Abnormality of the upper limb	633	BGN	OMIM:300106
HP:0002817	Abnormality of the upper limb	1954	MEGF8	ORPHA:65759
HP:0002817	Abnormality of the upper limb	9244	CRLF1	OMIM:272430
HP:0002817	Abnormality of the upper limb	2254	FGF9	ORPHA:3237
HP:0002817	Abnormality of the upper limb	6905	TBCE	OMIM:241410
HP:0002817	Abnormality of the upper limb	6905	TBCE	OMIM:244460
HP:0002817	Abnormality of the upper limb	1857	DVL3	ORPHA:3107
HP:0002817	Abnormality of the upper limb	7474	WNT5A	ORPHA:3107
HP:0002817	Abnormality of the upper limb	7474	WNT5A	OMIM:180700
HP:0002817	Abnormality of the upper limb	1855	DVL1	ORPHA:3107
HP:0002817	Abnormality of the upper limb	1855	DVL1	OMIM:180700
HP:0002817	Abnormality of the upper limb	2535	FZD2	ORPHA:3107
HP:0002817	Abnormality of the upper limb	2535	FZD2	ORPHA:93328
HP:0002817	Abnormality of the upper limb	132884	EVC2	OMIM:193530
HP:0002817	Abnormality of the upper limb	2121	EVC	OMIM:193530
HP:0002817	Abnormality of the upper limb	10013	HDAC6	ORPHA:163966
HP:0002817	Abnormality of the upper limb	79753	SNIP1	OMIM:614501
HP:0002817	Abnormality of the upper limb	10236	HNRNPR	OMIM:620073
HP:0002817	Abnormality of the upper limb	3636	INPPL1	OMIM:258480
HP:0002817	Abnormality of the upper limb	4089	SMAD4	OMIM:139210
HP:0002817	Abnormality of the upper limb	4089	SMAD4	ORPHA:2588
HP:0002817	Abnormality of the upper limb	5159	PDGFRB	OMIM:601812
HP:0002817	Abnormality of the upper limb	23522	KAT6B	ORPHA:85201
HP:0002817	Abnormality of the upper limb	28957	MRPS28	OMIM:618958
HP:0002817	Abnormality of the upper limb	23261	CAMTA1	OMIM:614756
HP:0002817	Abnormality of the upper limb	8450	CUL4B	ORPHA:85293
HP:0002817	Abnormality of the upper limb	25839	COG4	ORPHA:85172
HP:0002817	Abnormality of the upper limb	6925	TCF4	OMIM:610954
HP:0002817	Abnormality of the upper limb	5295	PIK3R1	ORPHA:3163
HP:0002817	Abnormality of the upper limb	89970	RSPRY1	ORPHA:457395
HP:0002817	Abnormality of the upper limb	51322	WAC	ORPHA:466950
HP:0002817	Abnormality of the upper limb	29123	ANKRD11	OMIM:148050
HP:0002817	Abnormality of the upper limb	7227	TRPS1	OMIM:190351
HP:0002817	Abnormality of the upper limb	157680	VPS13B	ORPHA:193
HP:0002817	Abnormality of the upper limb	157680	VPS13B	OMIM:216550
HP:0002817	Abnormality of the upper limb	56896	DPYSL5	OMIM:619435
HP:0002817	Abnormality of the upper limb	89910	UBE3B	OMIM:244450
HP:0002817	Abnormality of the upper limb	9757	KMT2B	OMIM:619934
HP:0002817	Abnormality of the upper limb	579	NKX3-2	OMIM:613330
HP:0002817	Abnormality of the upper limb	51305	KCNK9	ORPHA:166108
HP:0002817	Abnormality of the upper limb	8092	ALX1	ORPHA:306542
HP:0002817	Abnormality of the upper limb	84265	POLR3GL	OMIM:619234
HP:0002817	Abnormality of the upper limb	64327	LMBR1	OMIM:200500
HP:0002817	Abnormality of the upper limb	92482	BBIP1	ORPHA:110
HP:0002817	Abnormality of the upper limb	49855	SCAPER	ORPHA:110
HP:0002817	Abnormality of the upper limb	132320	SCLT1	ORPHA:110
HP:0002817	Abnormality of the upper limb	84984	CEP19	ORPHA:110
HP:0002817	Abnormality of the upper limb	79738	BBS10	ORPHA:110
HP:0002817	Abnormality of the upper limb	123016	TTC8	ORPHA:110
HP:0002817	Abnormality of the upper limb	585	BBS4	ORPHA:110
HP:0002817	Abnormality of the upper limb	55212	BBS7	ORPHA:110
HP:0002817	Abnormality of the upper limb	10806	SDCCAG8	ORPHA:110
HP:0002817	Abnormality of the upper limb	9361	LONP1	OMIM:600373
HP:0002817	Abnormality of the upper limb	64841	GNPNAT1	OMIM:619598
HP:0002817	Abnormality of the upper limb	6628	SNRPB	OMIM:117650
HP:0002817	Abnormality of the upper limb	10588	MTHFS	OMIM:618367
HP:0002817	Abnormality of the upper limb	23483	TGDS	OMIM:616145
HP:0002817	Abnormality of the upper limb	55764	IFT122	OMIM:218330
HP:0002817	Abnormality of the upper limb	145258	GSC	OMIM:602471
HP:0002817	Abnormality of the upper limb	4982	TNFRSF11B	OMIM:239000
HP:0002817	Abnormality of the upper limb	114803	MYSM1	ORPHA:508542
HP:0002817	Abnormality of the upper limb	8540	AGPS	OMIM:600121
HP:0002817	Abnormality of the upper limb	8443	GNPAT	OMIM:222765
HP:0002817	Abnormality of the upper limb	7547	ZIC3	OMIM:314390
HP:0002817	Abnormality of the upper limb	8802	SUCLG1	ORPHA:17
HP:0002817	Abnormality of the upper limb	55081	IFT57	OMIM:617927
HP:0002817	Abnormality of the upper limb	5573	PRKAR1A	ORPHA:950
HP:0002817	Abnormality of the upper limb	29957	SLC25A24	ORPHA:2095
HP:0002817	Abnormality of the upper limb	285590	SH3PXD2B	ORPHA:137834
HP:0002817	Abnormality of the upper limb	6473	SHOX	OMIM:127300
HP:0002817	Abnormality of the upper limb	1717	DHCR7	ORPHA:818
HP:0002817	Abnormality of the upper limb	324	APC	ORPHA:3258
HP:0002817	Abnormality of the upper limb	8195	MKKS	ORPHA:2473
HP:0002817	Abnormality of the upper limb	1186	CLCN7	ORPHA:53
HP:0002817	Abnormality of the upper limb	860	RUNX2	ORPHA:1452
HP:0002817	Abnormality of the upper limb	1302	COL11A2	ORPHA:166100
HP:0002817	Abnormality of the upper limb	4313	MMP2	ORPHA:371428
HP:0002817	Abnormality of the upper limb	4323	MMP14	ORPHA:371428
HP:0002817	Abnormality of the upper limb	2131	EXT1	ORPHA:321
HP:0002817	Abnormality of the upper limb	2132	EXT2	ORPHA:321
HP:0002817	Abnormality of the upper limb	8517	IKBKG	ORPHA:464
HP:0002817	Abnormality of the upper limb	1836	SLC26A2	ORPHA:93307
HP:0002817	Abnormality of the upper limb	9130	FAM50A	OMIM:300261
HP:0002817	Abnormality of the upper limb	8139	GAN	ORPHA:643
HP:0002817	Abnormality of the upper limb	1300	COL10A1	ORPHA:174
HP:0002817	Abnormality of the upper limb	11020	IFT27	OMIM:615996
HP:0002817	Abnormality of the upper limb	9365	KL	OMIM:617994
HP:0002817	Abnormality of the upper limb	7528	YY1	ORPHA:506358
HP:0002817	Abnormality of the upper limb	7528	YY1	OMIM:617557
HP:0002817	Abnormality of the upper limb	54681	P4HTM	OMIM:618493
HP:0002817	Abnormality of the upper limb	54681	P4HTM	ORPHA:436141
HP:0002817	Abnormality of the upper limb	128674	PROKR2	OMIM:244200
HP:0002817	Abnormality of the upper limb	55790	CSGALNACT1	OMIM:618870
HP:0002817	Abnormality of the upper limb	22861	NLRP1	OMIM:615225
HP:0002817	Abnormality of the upper limb	867	CBL	OMIM:613563
HP:0002817	Abnormality of the upper limb	1311	COMP	ORPHA:93308
HP:0002817	Abnormality of the upper limb	11342	RNF13	ORPHA:544503
HP:0002817	Abnormality of the upper limb	90459	ERI1	OMIM:620663
HP:0002817	Abnormality of the upper limb	5479	PPIB	OMIM:259440
HP:0002817	Abnormality of the upper limb	1277	COL1A1	OMIM:166200
HP:0002817	Abnormality of the upper limb	90952	ESAM	OMIM:620371
HP:0002817	Abnormality of the upper limb	3373	HYAL1	OMIM:601492
HP:0002817	Abnormality of the upper limb	84720	PIGO	ORPHA:247262
HP:0002817	Abnormality of the upper limb	84720	PIGO	OMIM:614749
HP:0002817	Abnormality of the upper limb	93210	PGAP3	ORPHA:247262
HP:0002817	Abnormality of the upper limb	93210	PGAP3	OMIM:615716
HP:0002817	Abnormality of the upper limb	284098	PIGW	ORPHA:247262
HP:0002817	Abnormality of the upper limb	27315	PGAP2	ORPHA:247262
HP:0002817	Abnormality of the upper limb	27315	PGAP2	OMIM:614207
HP:0002817	Abnormality of the upper limb	29929	ALG6	ORPHA:79320
HP:0002817	Abnormality of the upper limb	2990	GUSB	OMIM:253220
HP:0002817	Abnormality of the upper limb	3376	IARS1	ORPHA:541423
HP:0002817	Abnormality of the upper limb	79068	FTO	OMIM:612938
HP:0002817	Abnormality of the upper limb	4256	MGP	OMIM:245150
HP:0002817	Abnormality of the upper limb	545	ATR	OMIM:210600
HP:0002817	Abnormality of the upper limb	7476	WNT7A	OMIM:228930
HP:0002817	Abnormality of the upper limb	3586	IL10	OMIM:180300
HP:0002817	Abnormality of the upper limb	6583	SLC22A4	OMIM:180300
HP:0002817	Abnormality of the upper limb	4261	CIITA	OMIM:180300
HP:0002817	Abnormality of the upper limb	51744	CD244	OMIM:180300
HP:0002817	Abnormality of the upper limb	4795	NFKBIL1	OMIM:180300
HP:0002817	Abnormality of the upper limb	56098	PCDHGC4	OMIM:619880
HP:0002817	Abnormality of the upper limb	26278	SACS	OMIM:270550
HP:0002817	Abnormality of the upper limb	4041	LRP5	OMIM:144750
HP:0002817	Abnormality of the upper limb	65082	VPS33A	ORPHA:505248
HP:0002817	Abnormality of the upper limb	283209	PGM2L1	OMIM:620191
HP:0002817	Abnormality of the upper limb	1806	DPYD	ORPHA:1675
HP:0002817	Abnormality of the upper limb	7466	WFS1	OMIM:222300
HP:0002817	Abnormality of the upper limb	54829	ASPN	OMIM:607850
HP:0002817	Abnormality of the upper limb	64135	IFIH1	OMIM:182250
HP:0002817	Abnormality of the upper limb	1289	COL5A1	ORPHA:287
HP:0002817	Abnormality of the upper limb	1290	COL5A2	ORPHA:287
HP:0002817	Abnormality of the upper limb	8838	CCN6	ORPHA:1159
HP:0002817	Abnormality of the upper limb	4233	MET	OMIM:620019
HP:0002817	Abnormality of the upper limb	165	AEBP1	ORPHA:536532
HP:0002817	Abnormality of the upper limb	124583	CANT1	OMIM:251450
HP:0002817	Abnormality of the upper limb	6812	STXBP1	ORPHA:495818
HP:0002817	Abnormality of the upper limb	5176	SERPINF1	OMIM:613982
HP:0002817	Abnormality of the upper limb	9321	TRIP11	OMIM:200600
HP:0002817	Abnormality of the upper limb	11014	KDELR2	OMIM:619131
HP:0002817	Abnormality of the upper limb	121340	SP7	OMIM:613849
HP:0002817	Abnormality of the upper limb	9401	RECQL4	ORPHA:221016
HP:0002817	Abnormality of the upper limb	7140	TNNT3	ORPHA:1147
HP:0002817	Abnormality of the upper limb	7136	TNNI2	ORPHA:1147
HP:0002817	Abnormality of the upper limb	60681	FKBP10	ORPHA:1149
HP:0002817	Abnormality of the upper limb	538	ATP7A	ORPHA:198
HP:0002817	Abnormality of the upper limb	9939	RBM8A	ORPHA:3320
HP:0002817	Abnormality of the upper limb	9939	RBM8A	OMIM:274000
HP:0002817	Abnormality of the upper limb	1508	CTSB	OMIM:148370
HP:0002817	Abnormality of the upper limb	8710	SERPINB7	OMIM:615598
HP:0002817	Abnormality of the upper limb	64065	PERP	ORPHA:659
HP:0002817	Abnormality of the upper limb	284654	RSPO1	OMIM:610644
HP:0002817	Abnormality of the upper limb	1041	CDSN	OMIM:270300
HP:0002817	Abnormality of the upper limb	5317	PKP1	OMIM:604536
HP:0002817	Abnormality of the upper limb	3868	KRT16	ORPHA:2309
HP:0002817	Abnormality of the upper limb	3872	KRT17	ORPHA:2309
HP:0002817	Abnormality of the upper limb	3853	KRT6A	ORPHA:2309
HP:0002817	Abnormality of the upper limb	3854	KRT6B	ORPHA:2309
HP:0002817	Abnormality of the upper limb	1828	DSG1	OMIM:148700
HP:0002817	Abnormality of the upper limb	362	AQP5	OMIM:600231
HP:0002817	Abnormality of the upper limb	362	AQP5	ORPHA:2337
HP:0002817	Abnormality of the upper limb	145264	SERPINA12	ORPHA:86923
HP:0002817	Abnormality of the upper limb	54800	KLHL24	OMIM:617294
HP:0002817	Abnormality of the upper limb	3848	KRT1	ORPHA:79503
HP:0002817	Abnormality of the upper limb	2706	GJB2	ORPHA:494
HP:0002817	Abnormality of the upper limb	2706	GJB2	OMIM:124500
HP:0002817	Abnormality of the upper limb	65125	WNK1	OMIM:201300
HP:0002817	Abnormality of the upper limb	54463	RETREG1	OMIM:201300
HP:0002817	Abnormality of the upper limb	54463	RETREG1	OMIM:613115
HP:0002817	Abnormality of the upper limb	6335	SCN9A	OMIM:201300
HP:0002817	Abnormality of the upper limb	547	KIF1A	OMIM:201300
HP:0002817	Abnormality of the upper limb	547	KIF1A	OMIM:614213
HP:0002817	Abnormality of the upper limb	162514	TRPV3	OMIM:614594
HP:0002817	Abnormality of the upper limb	7051	TGM1	ORPHA:100976
HP:0002817	Abnormality of the upper limb	26276	VPS33B	OMIM:620009
HP:0002817	Abnormality of the upper limb	4914	NTRK1	OMIM:256800
HP:0002817	Abnormality of the upper limb	11277	TREX1	OMIM:610448
HP:0002817	Abnormality of the upper limb	51062	ATL1	OMIM:613708
HP:0002817	Abnormality of the upper limb	831	CAST	OMIM:616295
HP:0002817	Abnormality of the upper limb	5792	PTPRF	OMIM:616001
HP:0002817	Abnormality of the upper limb	129563	DIS3L2	ORPHA:2849
HP:0002817	Abnormality of the upper limb	55670	PEX26	ORPHA:44
HP:0002817	Abnormality of the upper limb	5824	PEX19	ORPHA:44
HP:0002817	Abnormality of the upper limb	8504	PEX3	ORPHA:44
HP:0002817	Abnormality of the upper limb	9409	PEX16	ORPHA:44
HP:0002817	Abnormality of the upper limb	8799	PEX11B	ORPHA:44
HP:0002817	Abnormality of the upper limb	5194	PEX13	ORPHA:44
HP:0002817	Abnormality of the upper limb	5195	PEX14	ORPHA:44
HP:0002817	Abnormality of the upper limb	5192	PEX10	ORPHA:44
HP:0002817	Abnormality of the upper limb	23511	NUP188	OMIM:618804
HP:0002817	Abnormality of the upper limb	9333	TGM5	ORPHA:263534
HP:0002817	Abnormality of the upper limb	1475	CSTA	ORPHA:263534
HP:0002817	Abnormality of the upper limb	79903	NAA60	OMIM:620786
HP:0002817	Abnormality of the upper limb	23321	TRIM2	OMIM:615490
HP:0002817	Abnormality of the upper limb	1678	TIMM8A	OMIM:304700
HP:0002817	Abnormality of the upper limb	7143	TNR	OMIM:619653
HP:0002817	Abnormality of the upper limb	122622	ADSS1	OMIM:617030
HP:0002817	Abnormality of the upper limb	122622	ADSS1	ORPHA:482601
HP:0002817	Abnormality of the upper limb	23259	DDHD2	OMIM:615033
HP:0002817	Abnormality of the upper limb	8988	HSPB3	OMIM:613376
HP:0002817	Abnormality of the upper limb	7415	VCP	ORPHA:435387
HP:0002817	Abnormality of the upper limb	7415	VCP	OMIM:616687
HP:0002817	Abnormality of the upper limb	59341	TRPV4	OMIM:606071
HP:0002817	Abnormality of the upper limb	57863	CADM3	OMIM:619519
HP:0002817	Abnormality of the upper limb	2318	FLNC	ORPHA:63273
HP:0002817	Abnormality of the upper limb	64856	VWA1	OMIM:619216
HP:0002817	Abnormality of the upper limb	80208	SPG11	OMIM:616668
HP:0002817	Abnormality of the upper limb	7273	TTN	ORPHA:609
HP:0002817	Abnormality of the upper limb	10229	COQ7	OMIM:620402
HP:0002817	Abnormality of the upper limb	8878	SQSTM1	ORPHA:603
HP:0002817	Abnormality of the upper limb	7072	TIA1	ORPHA:603
HP:0002817	Abnormality of the upper limb	81846	SBF2	ORPHA:99956
HP:0002817	Abnormality of the upper limb	203859	ANO5	OMIM:613319
HP:0002817	Abnormality of the upper limb	54332	GDAP1	ORPHA:101097
HP:0002817	Abnormality of the upper limb	22947	DUX4L1	ORPHA:269
HP:0002817	Abnormality of the upper limb	1789	DNMT3B	ORPHA:269
HP:0002817	Abnormality of the upper limb	2483	FRG1	ORPHA:269
HP:0002817	Abnormality of the upper limb	23347	SMCHD1	ORPHA:269
HP:0002817	Abnormality of the upper limb	100288687	DUX4	ORPHA:269
HP:0002817	Abnormality of the upper limb	773	CACNA1A	ORPHA:569
HP:0002817	Abnormality of the upper limb	112476	PRRT2	ORPHA:569
HP:0002817	Abnormality of the upper limb	6323	SCN1A	ORPHA:569
HP:0002817	Abnormality of the upper limb	477	ATP1A2	ORPHA:569
HP:0002817	Abnormality of the upper limb	4000	LMNA	OMIM:181350
HP:0002817	Abnormality of the upper limb	4000	LMNA	ORPHA:98856
HP:0002817	Abnormality of the upper limb	8291	DYSF	ORPHA:268
HP:0002817	Abnormality of the upper limb	4311	MME	ORPHA:497764
HP:0002817	Abnormality of the upper limb	10397	NDRG1	ORPHA:99950
HP:0002817	Abnormality of the upper limb	23676	SMPX	OMIM:301075
HP:0002817	Abnormality of the upper limb	59345	GNB4	OMIM:615185
HP:0002817	Abnormality of the upper limb	29925	GMPPB	ORPHA:363623
HP:0002817	Abnormality of the upper limb	6261	RYR1	ORPHA:178145
HP:0002817	Abnormality of the upper limb	3714	JAG2	OMIM:619566
HP:0002817	Abnormality of the upper limb	10516	FBLN5	OMIM:619764
HP:0002817	Abnormality of the upper limb	6652	SORD	OMIM:618912
HP:0002817	Abnormality of the upper limb	9517	SPTLC2	OMIM:613640
HP:0002817	Abnormality of the upper limb	7453	WARS1	OMIM:617721
HP:0002817	Abnormality of the upper limb	22880	MORC2	ORPHA:466768
HP:0002817	Abnormality of the upper limb	3035	HARS1	ORPHA:488333
HP:0002817	Abnormality of the upper limb	90523	MLIP	OMIM:620138
HP:0002817	Abnormality of the upper limb	10073	SNUPN	OMIM:620793
HP:0002817	Abnormality of the upper limb	353116	RILPL1	ORPHA:98897
HP:0002817	Abnormality of the upper limb	10755	GIPC1	ORPHA:98897
HP:0002817	Abnormality of the upper limb	29967	LRP12	ORPHA:98897
HP:0002817	Abnormality of the upper limb	100996717	NOTCH2NLC	ORPHA:98897
HP:0002817	Abnormality of the upper limb	339855	KY	ORPHA:496689
HP:0002817	Abnormality of the upper limb	3991	LIPE	ORPHA:435660
HP:0002817	Abnormality of the upper limb	400916	CHCHD10	ORPHA:457050
HP:0002817	Abnormality of the upper limb	400916	CHCHD10	ORPHA:276435
HP:0002817	Abnormality of the upper limb	311	ANXA11	OMIM:619733
HP:0002817	Abnormality of the upper limb	9990	SLC12A6	OMIM:620068
HP:0002817	Abnormality of the upper limb	274	BIN1	ORPHA:169189
HP:0002817	Abnormality of the upper limb	64419	MTMR14	ORPHA:169189
HP:0002817	Abnormality of the upper limb	64419	MTMR14	OMIM:160150
HP:0002817	Abnormality of the upper limb	4618	MYF6	ORPHA:169189
HP:0002817	Abnormality of the upper limb	1785	DNM2	ORPHA:169189
HP:0002817	Abnormality of the upper limb	1785	DNM2	OMIM:160150
HP:0002817	Abnormality of the upper limb	2010	EMD	ORPHA:98863
HP:0002817	Abnormality of the upper limb	8557	TCAP	OMIM:601954
HP:0002817	Abnormality of the upper limb	3908	LAMA2	OMIM:618138
HP:0002817	Abnormality of the upper limb	1371	CPOX	ORPHA:79273
HP:0002817	Abnormality of the upper limb	84033	OBSCN	ORPHA:99845
HP:0002817	Abnormality of the upper limb	23175	LPIN1	ORPHA:99845
HP:0002817	Abnormality of the upper limb	4512	MT-CO1	ORPHA:99845
HP:0002817	Abnormality of the upper limb	4514	MT-CO3	ORPHA:99845
HP:0002817	Abnormality of the upper limb	5498	PPOX	ORPHA:79473
HP:0002817	Abnormality of the upper limb	3145	HMBS	ORPHA:79276
HP:0002817	Abnormality of the upper limb	3156	HMGCR	OMIM:620375
HP:0002817	Abnormality of the upper limb	11155	LDB3	ORPHA:98912
HP:0002817	Abnormality of the upper limb	729920	CRPPA	ORPHA:352479
HP:0002817	Abnormality of the upper limb	79188	TMEM43	ORPHA:98853
HP:0002817	Abnormality of the upper limb	23345	SYNE1	ORPHA:98853
HP:0002817	Abnormality of the upper limb	23224	SYNE2	ORPHA:98853
HP:0002817	Abnormality of the upper limb	55958	KLHL9	ORPHA:399081
HP:0002817	Abnormality of the upper limb	3094	HINT1	ORPHA:324442
HP:0002817	Abnormality of the upper limb	10280	SIGMAR1	OMIM:614373
HP:0002817	Abnormality of the upper limb	81545	FBXO38	OMIM:615575
HP:0002817	Abnormality of the upper limb	4703	NEB	ORPHA:399103
HP:0002817	Abnormality of the upper limb	859	CAV3	ORPHA:488650
HP:0002817	Abnormality of the upper limb	4151	MB	OMIM:620286
HP:0002817	Abnormality of the upper limb	6786	STIM1	OMIM:160565
HP:0002817	Abnormality of the upper limb	2218	FKTN	OMIM:611588
HP:0002817	Abnormality of the upper limb	2617	GARS1	OMIM:600794
HP:0002817	Abnormality of the upper limb	2617	GARS1	OMIM:601472
HP:0002817	Abnormality of the upper limb	9420	CYP7B1	OMIM:270800
HP:0002817	Abnormality of the upper limb	9420	CYP7B1	ORPHA:100986
HP:0002817	Abnormality of the upper limb	3798	KIF5A	ORPHA:100991
HP:0002817	Abnormality of the upper limb	7994	KAT6A	OMIM:616268
HP:0002817	Abnormality of the upper limb	10801	SEPTIN9	ORPHA:2901
HP:0002817	Abnormality of the upper limb	4744	NEFH	OMIM:616924
HP:0002817	Abnormality of the upper limb	4141	MARS1	OMIM:616280
HP:0002817	Abnormality of the upper limb	26580	BSCL2	ORPHA:100998
HP:0002817	Abnormality of the upper limb	57679	ALS2	OMIM:205100
HP:0002817	Abnormality of the upper limb	10342	TFG	OMIM:615658
HP:0002817	Abnormality of the upper limb	89874	SLC25A21	OMIM:618811
HP:0002817	Abnormality of the upper limb	170689	ADAMTS15	OMIM:620545
HP:0002817	Abnormality of the upper limb	1639	DCTN1	OMIM:607641
HP:0002817	Abnormality of the upper limb	113278	SLC52A3	OMIM:211530
HP:0002817	Abnormality of the upper limb	2395	FXN	ORPHA:95
HP:0002817	Abnormality of the upper limb	5518	PPP2R1A	OMIM:616362
HP:0002817	Abnormality of the upper limb	55315	SLC29A3	OMIM:602782
HP:0002817	Abnormality of the upper limb	219854	TMEM218	OMIM:619562
HP:0002817	Abnormality of the upper limb	10093	ARPC4	OMIM:620141
HP:0002817	Abnormality of the upper limb	54928	BPNT2	OMIM:614078
HP:0002817	Abnormality of the upper limb	6597	SMARCA4	ORPHA:1465
HP:0002817	Abnormality of the upper limb	6597	SMARCA4	OMIM:614609
HP:0002817	Abnormality of the upper limb	6598	SMARCB1	ORPHA:1465
HP:0002817	Abnormality of the upper limb	8289	ARID1A	ORPHA:1465
HP:0002817	Abnormality of the upper limb	6601	SMARCC2	ORPHA:1465
HP:0002817	Abnormality of the upper limb	196528	ARID2	ORPHA:1465
HP:0002817	Abnormality of the upper limb	6664	SOX11	ORPHA:1465
HP:0002817	Abnormality of the upper limb	5879	RAC1	ORPHA:500159
HP:0002817	Abnormality of the upper limb	1327	COX4I1	OMIM:619060
HP:0002817	Abnormality of the upper limb	23291	FBXW11	OMIM:618914
HP:0002817	Abnormality of the upper limb	10765	KDM5B	OMIM:618109
HP:0002817	Abnormality of the upper limb	11011	TLK2	OMIM:618050
HP:0002817	Abnormality of the upper limb	7700	ZNF141	OMIM:615226
HP:0002817	Abnormality of the upper limb	55605	KIF21A	ORPHA:45358
HP:0002817	Abnormality of the upper limb	347733	TUBB2B	ORPHA:45358
HP:0002817	Abnormality of the upper limb	7846	TUBA1A	ORPHA:45358
HP:0002817	Abnormality of the upper limb	401	PHOX2A	ORPHA:45358
HP:0002817	Abnormality of the upper limb	59344	ALOXE3	OMIM:242100
HP:0002817	Abnormality of the upper limb	242	ALOX12B	OMIM:242100
HP:0002817	Abnormality of the upper limb	8820	HESX1	OMIM:182230
HP:0002817	Abnormality of the upper limb	8820	HESX1	ORPHA:226307
HP:0002817	Abnormality of the upper limb	26154	ABCA12	OMIM:242500
HP:0002817	Abnormality of the upper limb	7840	ALMS1	ORPHA:64
HP:0002817	Abnormality of the upper limb	6134	RPL10	OMIM:300998
HP:0002817	Abnormality of the upper limb	6134	RPL10	ORPHA:459070
HP:0002817	Abnormality of the upper limb	5626	PROP1	ORPHA:226307
HP:0002817	Abnormality of the upper limb	89884	LHX4	ORPHA:226307
HP:0002817	Abnormality of the upper limb	8022	LHX3	ORPHA:226307
HP:0002817	Abnormality of the upper limb	5449	POU1F1	ORPHA:226307
HP:0002817	Abnormality of the upper limb	7750	ZMYM2	OMIM:619522
HP:0002817	Abnormality of the upper limb	84823	LMNB2	OMIM:619180
HP:0002817	Abnormality of the upper limb	164	AP1G1	OMIM:619467
HP:0002817	Abnormality of the upper limb	5130	PCYT1A	OMIM:608940
HP:0002817	Abnormality of the upper limb	2019	EN1	OMIM:619218
HP:0002817	Abnormality of the upper limb	84231	TRAF7	OMIM:618164
HP:0002817	Abnormality of the upper limb	10225	CD96	OMIM:211750
HP:0002817	Abnormality of the upper limb	389827	MYMK	ORPHA:1358
HP:0002817	Abnormality of the upper limb	101929726	MYMX	ORPHA:1358
HP:0002817	Abnormality of the upper limb	84100	ARL6	OMIM:209900
HP:0002817	Abnormality of the upper limb	79140	CCDC28B	OMIM:209900
HP:0002817	Abnormality of the upper limb	582	BBS1	OMIM:209900
HP:0002817	Abnormality of the upper limb	65267	WNK3	OMIM:309610
HP:0002817	Abnormality of the upper limb	6909	TBX2	OMIM:618223
HP:0002817	Abnormality of the upper limb	2074	ERCC6	OMIM:214150
HP:0002817	Abnormality of the upper limb	1718	DHCR24	OMIM:602398
HP:0002817	Abnormality of the upper limb	10466	COG5	ORPHA:263487
HP:0002817	Abnormality of the upper limb	54880	BCOR	OMIM:309800
HP:0002817	Abnormality of the upper limb	8260	NAA10	OMIM:309800
HP:0002817	Abnormality of the upper limb	2737	GLI3	OMIM:175700
HP:0002817	Abnormality of the upper limb	9231	DLG5	OMIM:620703
HP:0002817	Abnormality of the upper limb	84942	WDR73	OMIM:251300
HP:0002817	Abnormality of the upper limb	9719	ADAMTSL2	OMIM:231050
HP:0002817	Abnormality of the upper limb	5830	PEX5	OMIM:214110
HP:0002817	Abnormality of the upper limb	4952	OCRL	OMIM:309000
HP:0002817	Abnormality of the upper limb	1235	CCR6	ORPHA:220402
HP:0002817	Abnormality of the upper limb	79932	KIAA0319L	ORPHA:220402
HP:0002817	Abnormality of the upper limb	1490	CCN2	ORPHA:220402
HP:0002817	Abnormality of the upper limb	3663	IRF5	ORPHA:220402
HP:0002817	Abnormality of the upper limb	857	CAV1	ORPHA:220402
HP:0002817	Abnormality of the upper limb	3123	HLA-DRB1	ORPHA:220402
HP:0002817	Abnormality of the upper limb	1303	COL12A1	ORPHA:536516
HP:0002817	Abnormality of the upper limb	91179	SCARF2	OMIM:600920
HP:0002817	Abnormality of the upper limb	51715	RAB23	OMIM:201000
HP:0002817	Abnormality of the upper limb	113179	ADAT3	ORPHA:363528
HP:0002817	Abnormality of the upper limb	4920	ROR2	OMIM:113000
HP:0002817	Abnormality of the upper limb	58	ACTA1	OMIM:620278
HP:0002817	Abnormality of the upper limb	9968	MED12	OMIM:305450
HP:0002817	Abnormality of the upper limb	9215	LARGE1	OMIM:608840
HP:0002817	Abnormality of the upper limb	2273	FHL1	OMIM:300280
HP:0002817	Abnormality of the upper limb	126792	B3GALT6	OMIM:271640
HP:0002817	Abnormality of the upper limb	126792	B3GALT6	OMIM:615349
HP:0002817	Abnormality of the upper limb	7169	TPM2	OMIM:108120
HP:0002817	Abnormality of the upper limb	139285	AMER1	OMIM:300373
HP:0002817	Abnormality of the upper limb	8626	TP63	OMIM:603543
HP:0002817	Abnormality of the upper limb	63895	PIEZO2	OMIM:248700
HP:0002817	Abnormality of the upper limb	6497	SKI	OMIM:182212
HP:0002817	Abnormality of the upper limb	10084	PQBP1	OMIM:309500
HP:0002817	Abnormality of the upper limb	4621	MYH3	OMIM:193700
HP:0002817	Abnormality of the upper limb	7390	UROS	OMIM:263700
HP:0002817	Abnormality of the upper limb	4998	ORC1	OMIM:224690
HP:0002817	Abnormality of the upper limb	10381	TUBB3	OMIM:600638
HP:0002817	Abnormality of the upper limb	1272	CNTN1	OMIM:612540
HP:0002817	Abnormality of the upper limb	9487	PIGL	OMIM:280000
HP:0002817	Abnormality of the upper limb	3572	IL6ST	OMIM:618523
HP:0002817	Abnormality of the upper limb	2146	EZH2	OMIM:277590
HP:0002817	Abnormality of the upper limb	7048	TGFBR2	OMIM:610168
HP:0002817	Abnormality of the upper limb	57211	ADGRG6	OMIM:616503
HP:0002817	Abnormality of the upper limb	2316	FLNA	ORPHA:1826
HP:0002817	Abnormality of the upper limb	6885	MAP3K7	ORPHA:1826
HP:0002817	Abnormality of the upper limb	3339	HSPG2	OMIM:255800
HP:0002817	Abnormality of the upper limb	147372	CCBE1	OMIM:235510
HP:0002817	Abnormality of the upper limb	10195	ALG3	OMIM:601110
HP:0002817	Abnormality of the upper limb	257	ALX3	OMIM:136760
HP:0002817	Abnormality of the upper limb	6913	TBX15	OMIM:260660
HP:0002817	Abnormality of the upper limb	26053	AUTS2	ORPHA:352490
HP:0002817	Abnormality of the upper limb	1301	COL11A1	OMIM:228520
HP:0002817	Abnormality of the upper limb	91252	SLC39A13	OMIM:612350
HP:0002817	Abnormality of the upper limb	4604	MYBPC1	OMIM:614335
HP:0002817	Abnormality of the upper limb	57449	PLEKHG5	OMIM:611067
HP:0002817	Abnormality of the upper limb	3178	HNRNPA1	OMIM:610099
HP:0002817	Abnormality of the upper limb	28982	FLVCR1	OMIM:609033
HP:0002817	Abnormality of the upper limb	26227	PHGDH	OMIM:256520
HP:0002817	Abnormality of the upper limb	55131	RBM28	ORPHA:157954
HP:0002817	Abnormality of the upper limb	55131	RBM28	OMIM:612079
HP:0002817	Abnormality of the upper limb	5925	RB1	ORPHA:1587
HP:0002817	Abnormality of the upper limb	80144	FRAS1	OMIM:219000
HP:0002817	Abnormality of the upper limb	5053	PAH	ORPHA:2209
HP:0002817	Abnormality of the upper limb	55280	CWF19L1	ORPHA:453521
HP:0002817	Abnormality of the upper limb	58499	ZNF462	ORPHA:502430
HP:0002817	Abnormality of the upper limb	58499	ZNF462	OMIM:618619
HP:0002817	Abnormality of the upper limb	8314	BAP1	OMIM:619762
HP:0002817	Abnormality of the upper limb	118924	FRA10AC1	OMIM:620113
HP:0002817	Abnormality of the upper limb	9419	CRIPT	OMIM:615789
HP:0002817	Abnormality of the upper limb	4247	MGAT2	OMIM:212066
HP:0002817	Abnormality of the upper limb	2192	FBLN1	OMIM:608180
HP:0002817	Abnormality of the upper limb	6938	TCF12	ORPHA:35099
HP:0002817	Abnormality of the upper limb	7545	ZIC1	ORPHA:35099
HP:0002817	Abnormality of the upper limb	85301	COL27A1	OMIM:615155
HP:0002817	Abnormality of the upper limb	4841	NONO	ORPHA:466791
HP:0002817	Abnormality of the upper limb	3708	ITPR1	OMIM:206700
HP:0002817	Abnormality of the upper limb	2137	EXTL3	ORPHA:508533
HP:0002817	Abnormality of the upper limb	81794	ADAMTS10	OMIM:277600
HP:0002817	Abnormality of the upper limb	10651	MTX2	OMIM:619127
HP:0002817	Abnormality of the upper limb	23586	RIGI	OMIM:616298
HP:0002817	Abnormality of the upper limb	25923	ATL3	OMIM:615632
HP:0002817	Abnormality of the upper limb	4853	NOTCH2	OMIM:102500
HP:0002817	Abnormality of the upper limb	4626	MYH8	ORPHA:3377
HP:0002817	Abnormality of the upper limb	8452	CUL3	OMIM:619239
HP:0002817	Abnormality of the upper limb	4613	MYCN	OMIM:164280
HP:0002817	Abnormality of the upper limb	4613	MYCN	ORPHA:391641
HP:0002817	Abnormality of the upper limb	407975	MIR17HG	ORPHA:391646
HP:0002817	Abnormality of the upper limb	170691	ADAMTS17	ORPHA:3449
HP:0002817	Abnormality of the upper limb	4053	LTBP2	ORPHA:3449
HP:0002817	Abnormality of the upper limb	26100	WIPI2	OMIM:618453
HP:0002817	Abnormality of the upper limb	3590	IL11RA	OMIM:614188
HP:0002817	Abnormality of the upper limb	1807	DPYS	OMIM:222748
HP:0002817	Abnormality of the upper limb	9509	ADAMTS2	OMIM:225410
HP:0002817	Abnormality of the upper limb	9469	CHST3	ORPHA:263463
HP:0002817	Abnormality of the upper limb	4010	LMX1B	ORPHA:2614
HP:0002817	Abnormality of the upper limb	2733	GLE1	ORPHA:1486
HP:0002817	Abnormality of the upper limb	9820	CUL7	ORPHA:2616
HP:0002817	Abnormality of the upper limb	23363	OBSL1	ORPHA:2616
HP:0002817	Abnormality of the upper limb	83987	CCDC8	ORPHA:2616
HP:0002817	Abnormality of the upper limb	3425	IDUA	ORPHA:93473
HP:0002817	Abnormality of the upper limb	2261	FGFR3	ORPHA:429
HP:0002817	Abnormality of the upper limb	8036	SHOC2	ORPHA:2701
HP:0002817	Abnormality of the upper limb	5500	PPP1CB	ORPHA:2701
HP:0002817	Abnormality of the upper limb	2690	GHR	ORPHA:633
HP:0002817	Abnormality of the upper limb	6910	TBX5	OMIM:142900
HP:0002817	Abnormality of the upper limb	7473	WNT3	ORPHA:3301
HP:0002817	Abnormality of the upper limb	9496	TBX4	ORPHA:3301
HP:0002817	Abnormality of the upper limb	1009	CDH11	ORPHA:1299
HP:0002817	Abnormality of the upper limb	29980	DONSON	OMIM:251230
HP:0002817	Abnormality of the upper limb	8813	DPM1	OMIM:608799
HP:0002817	Abnormality of the upper limb	5718	PSMD12	ORPHA:529962
HP:0002817	Abnormality of the upper limb	2186	BPTF	ORPHA:529962
HP:0002817	Abnormality of the upper limb	51604	PIGT	ORPHA:369837
HP:0002817	Abnormality of the upper limb	57167	SALL4	OMIM:147750
HP:0002817	Abnormality of the upper limb	5144	PDE4D	ORPHA:439822
HP:0002817	Abnormality of the upper limb	2335	FN1	ORPHA:93315
HP:0002817	Abnormality of the upper limb	1280	COL2A1	ORPHA:93315
HP:0002817	Abnormality of the upper limb	1280	COL2A1	ORPHA:94068
HP:0002817	Abnormality of the upper limb	1147	CHUK	OMIM:613630
HP:0002817	Abnormality of the upper limb	388015	RTL1	ORPHA:96334
HP:0002817	Abnormality of the upper limb	8788	DLK1	ORPHA:96334
HP:0002817	Abnormality of the upper limb	55384	MEG3	ORPHA:96334
HP:0002817	Abnormality of the upper limb	219844	HYLS1	OMIM:236680
HP:0002817	Abnormality of the upper limb	9949	AMMECR1	OMIM:300990
HP:0002817	Abnormality of the upper limb	9653	HS2ST1	OMIM:619194
HP:0002817	Abnormality of the upper limb	2033	EP300	OMIM:180849
HP:0002817	Abnormality of the upper limb	2033	EP300	ORPHA:353284
HP:0002817	Abnormality of the upper limb	1387	CREBBP	OMIM:180849
HP:0002817	Abnormality of the upper limb	1387	CREBBP	ORPHA:353277
HP:0002817	Abnormality of the upper limb	1387	CREBBP	ORPHA:353281
HP:0002817	Abnormality of the upper limb	55209	SETD5	ORPHA:404440
HP:0002817	Abnormality of the upper limb	55209	SETD5	OMIM:615761
HP:0002817	Abnormality of the upper limb	23404	EXOSC2	OMIM:617763
HP:0002817	Abnormality of the upper limb	57728	WDR19	OMIM:614378
HP:0002817	Abnormality of the upper limb	5293	PIK3CD	ORPHA:221139
HP:0002817	Abnormality of the upper limb	90417	KNSTRN	ORPHA:221139
HP:0002817	Abnormality of the upper limb	10617	STAMBP	OMIM:614261
HP:0002817	Abnormality of the upper limb	51412	ACTL6B	OMIM:618470
HP:0002817	Abnormality of the upper limb	3764	KCNJ8	ORPHA:1517
HP:0002817	Abnormality of the upper limb	24140	FTSJ1	OMIM:309549
HP:0002817	Abnormality of the upper limb	2475	MTOR	OMIM:616638
HP:0002817	Abnormality of the upper limb	54	ACP5	ORPHA:1855
HP:0002817	Abnormality of the upper limb	5281	PIGF	OMIM:619356
HP:0002817	Abnormality of the upper limb	2677	GGCX	OMIM:277450
HP:0002817	Abnormality of the upper limb	415	ARSL	ORPHA:79345
HP:0002817	Abnormality of the upper limb	415	ARSL	OMIM:302950
HP:0002817	Abnormality of the upper limb	26137	ZBTB20	OMIM:259050
HP:0002817	Abnormality of the upper limb	60401	EDA2R	ORPHA:181
HP:0002817	Abnormality of the upper limb	1896	EDA	ORPHA:181
HP:0002817	Abnormality of the upper limb	6711	SPTBN1	OMIM:619475
HP:0002817	Abnormality of the upper limb	71	ACTG1	ORPHA:2995
HP:0002817	Abnormality of the upper limb	10992	SF3B2	OMIM:164210
HP:0002817	Abnormality of the upper limb	79848	CSPP1	ORPHA:397715
HP:0002817	Abnormality of the upper limb	9786	KIAA0586	ORPHA:397715
HP:0002817	Abnormality of the upper limb	6091	ROBO1	OMIM:620305
HP:0002817	Abnormality of the upper limb	8642	DCHS1	OMIM:601390
HP:0002817	Abnormality of the upper limb	26224	FBXL3	OMIM:606220
HP:0002817	Abnormality of the upper limb	55733	HHAT	OMIM:600092
HP:0002817	Abnormality of the upper limb	55733	HHAT	ORPHA:1422
HP:0002817	Abnormality of the upper limb	149775	GNAS-AS1	OMIM:603233
HP:0002817	Abnormality of the upper limb	117581	TWIST2	OMIM:200110
HP:0002817	Abnormality of the upper limb	10686	CLDN16	OMIM:248250
HP:0002817	Abnormality of the upper limb	5139	PDE3A	OMIM:112410
HP:0002817	Abnormality of the upper limb	5139	PDE3A	ORPHA:1276
HP:0002817	Abnormality of the upper limb	10283	CWC27	OMIM:250410
HP:0002817	Abnormality of the upper limb	10283	CWC27	ORPHA:166035
HP:0002817	Abnormality of the upper limb	55252	ASXL2	OMIM:617190
HP:0002817	Abnormality of the upper limb	5264	PHYH	ORPHA:773
HP:0002817	Abnormality of the upper limb	5191	PEX7	ORPHA:773
HP:0002817	Abnormality of the upper limb	83452	RAB33B	OMIM:615222
HP:0002817	Abnormality of the upper limb	56992	KIF15	ORPHA:261323
HP:0002817	Abnormality of the upper limb	375056	MIA3	OMIM:619269
HP:0002817	Abnormality of the upper limb	9451	EIF2AK3	OMIM:226980
HP:0002817	Abnormality of the upper limb	1161	ERCC8	OMIM:216400
HP:0002817	Abnormality of the upper limb	29926	GMPPA	ORPHA:869
HP:0002817	Abnormality of the upper limb	60684	TRAPPC11	ORPHA:869
HP:0002817	Abnormality of the upper limb	8086	AAAS	ORPHA:869
HP:0002817	Abnormality of the upper limb	22884	WDR37	OMIM:618652
HP:0002817	Abnormality of the upper limb	80347	COASY	OMIM:618266
HP:0002817	Abnormality of the upper limb	54809	SAMD9	OMIM:617053
HP:0002817	Abnormality of the upper limb	348180	CTU2	OMIM:618142
HP:0002817	Abnormality of the upper limb	256297	PTF1A	OMIM:609069
HP:0002817	Abnormality of the upper limb	55593	OTUD5	OMIM:301056
HP:0002817	Abnormality of the upper limb	129285	PPP1R21	OMIM:619383
HP:0002817	Abnormality of the upper limb	8567	MADD	OMIM:619004
HP:0002817	Abnormality of the upper limb	5297	PI4KA	OMIM:616531
HP:0002817	Abnormality of the upper limb	5297	PI4KA	OMIM:619708
HP:0002817	Abnormality of the upper limb	8985	PLOD3	OMIM:612394
HP:0002817	Abnormality of the upper limb	5591	PRKDC	OMIM:615966
HP:0002817	Abnormality of the upper limb	488	ATP2A2	ORPHA:218
HP:0002817	Abnormality of the upper limb	488	ATP2A2	OMIM:124200
HP:0002817	Abnormality of the upper limb	10519	CIB1	OMIM:618267
HP:0002817	Abnormality of the upper limb	55906	ZC4H2	OMIM:314580
HP:0002817	Abnormality of the upper limb	80326	WNT10A	OMIM:150400
HP:0002817	Abnormality of the upper limb	81607	NECTIN4	OMIM:613573
HP:0002817	Abnormality of the upper limb	3857	KRT9	ORPHA:2199
HP:0002817	Abnormality of the upper limb	3857	KRT9	OMIM:144200
HP:0002817	Abnormality of the upper limb	81031	SLC2A10	ORPHA:3342
HP:0002817	Abnormality of the upper limb	65109	UPF3B	OMIM:300676
HP:0002817	Abnormality of the upper limb	6477	SIAH1	OMIM:619314
HP:0002817	Abnormality of the upper limb	6299	SALL1	OMIM:107480
HP:0002817	Abnormality of the upper limb	6299	SALL1	ORPHA:857
HP:0002817	Abnormality of the upper limb	10847	SRCAP	OMIM:136140
HP:0002817	Abnormality of the upper limb	650	BMP2	ORPHA:261295
HP:0002817	Abnormality of the upper limb	3020	H3-3A	OMIM:619720
HP:0002817	Abnormality of the upper limb	3021	H3-3B	OMIM:619721
HP:0002817	Abnormality of the upper limb	473	RERE	OMIM:616975
HP:0002817	Abnormality of the upper limb	176	ACAN	OMIM:612813
HP:0002817	Abnormality of the upper limb	176	ACAN	ORPHA:171866
HP:0002817	Abnormality of the upper limb	51132	RLIM	OMIM:300978
HP:0002817	Abnormality of the upper limb	92579	G6PC3	OMIM:612541
HP:0002817	Abnormality of the upper limb	29920	PYCR2	ORPHA:481152
HP:0002817	Abnormality of the upper limb	2626	GATA4	ORPHA:251071
HP:0002817	Abnormality of the upper limb	4212	MEIS2	OMIM:600987
HP:0002817	Abnormality of the upper limb	657	BMPR1A	ORPHA:79076
HP:0002817	Abnormality of the upper limb	6608	SMO	OMIM:601707
HP:0002817	Abnormality of the upper limb	6608	SMO	ORPHA:1553
HP:0002817	Abnormality of the upper limb	51633	OTUD6B	OMIM:617452
HP:0002817	Abnormality of the upper limb	51633	OTUD6B	ORPHA:505237
HP:0002817	Abnormality of the upper limb	80036	TRPM3	OMIM:620224
HP:0002817	Abnormality of the upper limb	285362	SUMF1	OMIM:272200
HP:0002817	Abnormality of the upper limb	285362	SUMF1	ORPHA:585
HP:0002817	Abnormality of the upper limb	79759	ZNF668	OMIM:620194
HP:0002817	Abnormality of the upper limb	284252	KCTD1	OMIM:181270
HP:0002817	Abnormality of the upper limb	51339	DACT1	ORPHA:857
HP:0002817	Abnormality of the upper limb	3756	KCNH1	ORPHA:420561
HP:0002817	Abnormality of the upper limb	3756	KCNH1	OMIM:611816
HP:0002817	Abnormality of the upper limb	4123	MAN2C1	OMIM:619775
HP:0002817	Abnormality of the upper limb	4488	MSX2	ORPHA:60015
HP:0002817	Abnormality of the upper limb	60529	ALX4	ORPHA:60015
HP:0002817	Abnormality of the upper limb	79989	IFT56	OMIM:619534
HP:0002817	Abnormality of the upper limb	5587	PRKD1	OMIM:617364
HP:0002817	Abnormality of the upper limb	2703	GJA8	OMIM:612474
HP:0002817	Abnormality of the upper limb	2702	GJA5	OMIM:612474
HP:0002817	Abnormality of the upper limb	865	CBFB	OMIM:620099
HP:0002817	Abnormality of the upper limb	654	BMP6	ORPHA:465508
HP:0002817	Abnormality of the upper limb	3077	HFE	ORPHA:465508
HP:0002817	Abnormality of the upper limb	6709	SPTAN1	OMIM:620528
HP:0002817	Abnormality of the upper limb	22943	DKK1	ORPHA:268882
HP:0002817	Abnormality of the upper limb	6548	SLC9A1	OMIM:616291
HP:0002817	Abnormality of the upper limb	7504	XK	OMIM:300842
HP:0002817	Abnormality of the upper limb	3508	IGHMBP2	OMIM:616155
HP:0002817	Abnormality of the upper limb	182	JAG1	OMIM:619574
HP:0002817	Abnormality of the upper limb	5376	PMP22	ORPHA:90658
HP:0002817	Abnormality of the upper limb	51	ACOX1	OMIM:618960
HP:0002817	Abnormality of the upper limb	3315	HSPB1	OMIM:606595
HP:0002817	Abnormality of the upper limb	4556	MT-TE	ORPHA:2596
HP:0002817	Abnormality of the upper limb	9711	RUBCN	OMIM:615705
HP:0002817	Abnormality of the upper limb	10159	ATP6AP2	ORPHA:93952
HP:0002817	Abnormality of the upper limb	8869	ST3GAL5	OMIM:609056
HP:0002817	Abnormality of the upper limb	11160	ERLIN2	ORPHA:209951
HP:0002817	Abnormality of the upper limb	4094	MAF	ORPHA:1272
HP:0002817	Abnormality of the upper limb	2200	FBN1	ORPHA:284979
HP:0002817	Abnormality of the upper limb	6874	TAF4	OMIM:620450
HP:0002817	Abnormality of the upper limb	7043	TGFB3	OMIM:615582
HP:0002817	Abnormality of the upper limb	64324	NSD1	ORPHA:821
HP:0002817	Abnormality of the upper limb	10297	APC2	ORPHA:821
HP:0002817	Abnormality of the upper limb	1742	DLG4	OMIM:618793
HP:0002817	Abnormality of the upper limb	6840	SVIL	OMIM:619040
HP:0002817	Abnormality of the upper limb	342035	GLDN	OMIM:617194
HP:0002817	Abnormality of the upper limb	3861	KRT14	ORPHA:69087
HP:0002817	Abnormality of the upper limb	1859	DYRK1A	ORPHA:464311
HP:0002817	Abnormality of the upper limb	5696	PSMB8	OMIM:256040
HP:0002817	Abnormality of the upper limb	5692	PSMB4	OMIM:617591
HP:0002817	Abnormality of the upper limb	23299	BICD2	ORPHA:363454
HP:0002817	Abnormality of the upper limb	65055	REEP1	ORPHA:101011
HP:0002817	Abnormality of the upper limb	9782	MATR3	OMIM:606070
HP:0002817	Abnormality of the upper limb	5165	PDK3	OMIM:300905
HP:0002817	Abnormality of the upper limb	7084	TK2	ORPHA:254886
HP:0002817	Abnormality of the upper limb	2705	GJB1	OMIM:302800
HP:0002817	Abnormality of the upper limb	2992	GYG1	OMIM:616199
HP:0002817	Abnormality of the upper limb	8292	COLQ	ORPHA:98915
HP:0002817	Abnormality of the upper limb	3913	LAMB2	ORPHA:98915
HP:0002817	Abnormality of the upper limb	8565	YARS1	OMIM:608323
HP:0002817	Abnormality of the upper limb	2077	ERF	OMIM:617180
HP:0002817	Abnormality of the upper limb	4883	NPR3	OMIM:619543
HP:0002817	Abnormality of the upper limb	3043	HBB	ORPHA:232
HP:0002817	Abnormality of the upper limb	374654	KIF7	ORPHA:166024
HP:0002817	Abnormality of the upper limb	9555	MACROH2A1	ORPHA:1275
HP:0002817	Abnormality of the upper limb	5307	PITX1	ORPHA:1275
HP:0002817	Abnormality of the upper limb	7040	TGFB1	ORPHA:1328
HP:0002817	Abnormality of the upper limb	10585	POMT1	ORPHA:86812
HP:0002817	Abnormality of the upper limb	51098	IFT52	OMIM:617102
HP:0002817	Abnormality of the upper limb	5965	RECQL	OMIM:620370
HP:0002817	Abnormality of the upper limb	128	ADH5	OMIM:619151
HP:0002817	Abnormality of the upper limb	3782	KCNN3	OMIM:618658
HP:0002817	Abnormality of the upper limb	10625	IVNS1ABP	OMIM:618969
HP:0002817	Abnormality of the upper limb	920	CD4	OMIM:619238
HP:0002817	Abnormality of the upper limb	81570	CLPB	OMIM:616271
HP:0002817	Abnormality of the upper limb	126410	CYP4F22	OMIM:604777
HP:0002817	Abnormality of the upper limb	126695	KDF1	OMIM:617337
HP:0002817	Abnormality of the upper limb	412	STS	OMIM:308100
HP:0002817	Abnormality of the upper limb	204219	CERS3	OMIM:615023
HP:0002817	Abnormality of the upper limb	2312	FLG	OMIM:146700
HP:0002817	Abnormality of the upper limb	64423	INF2	OMIM:614455
HP:0002817	Abnormality of the upper limb	8566	PDXK	OMIM:618511
HP:0002817	Abnormality of the upper limb	84572	GNPTG	OMIM:252605
HP:0002817	Abnormality of the upper limb	9150	CTDP1	ORPHA:48431
HP:0002817	Abnormality of the upper limb	9898	UBAP2L	OMIM:620494
HP:0002817	Abnormality of the upper limb	150468	CKAP2L	OMIM:272440
HP:0002817	Abnormality of the upper limb	10210	TOPORS	ORPHA:2754
HP:0002817	Abnormality of the upper limb	5147	PDE6D	ORPHA:2754
HP:0002817	Abnormality of the upper limb	317662	FAM149B1	ORPHA:2754
HP:0002817	Abnormality of the upper limb	1747	DLX3	ORPHA:3352
HP:0002817	Abnormality of the upper limb	3767	KCNJ11	ORPHA:79134
HP:0002817	Abnormality of the upper limb	79731	NARS2	ORPHA:79134
HP:0002817	Abnormality of the upper limb	6833	ABCC8	ORPHA:79134
HP:0002817	Abnormality of the upper limb	9126	SMC3	ORPHA:199
HP:0002817	Abnormality of the upper limb	8243	SMC1A	ORPHA:199
HP:0002817	Abnormality of the upper limb	6878	TAF6	ORPHA:199
HP:0002817	Abnormality of the upper limb	25836	NIPBL	ORPHA:199
HP:0002817	Abnormality of the upper limb	55869	HDAC8	ORPHA:199
HP:0002817	Abnormality of the upper limb	5885	RAD21	ORPHA:199
HP:0002817	Abnormality of the upper limb	5604	MAP2K1	ORPHA:1340
HP:0002817	Abnormality of the upper limb	5605	MAP2K2	ORPHA:1340
HP:0002817	Abnormality of the upper limb	175	AGA	ORPHA:93
HP:0002817	Abnormality of the upper limb	5339	PLEC	ORPHA:254361
HP:0002817	Abnormality of the upper limb	8294	H4C9	OMIM:619951
HP:0002817	Abnormality of the upper limb	54968	TMEM70	ORPHA:1194
HP:0002817	Abnormality of the upper limb	84466	MEGF10	OMIM:614399
HP:0002817	Abnormality of the upper limb	64127	NOD2	OMIM:186580
HP:0002817	Abnormality of the upper limb	64127	NOD2	ORPHA:90340
HP:0002817	Abnormality of the upper limb	9508	ADAMTS3	ORPHA:2136
HP:0002817	Abnormality of the upper limb	79633	FAT4	ORPHA:2136
HP:0002817	Abnormality of the upper limb	55612	FERMT1	ORPHA:2908
HP:0002817	Abnormality of the upper limb	23102	TBC1D2B	OMIM:619323
HP:0002817	Abnormality of the upper limb	2068	ERCC2	OMIM:610756
HP:0002817	Abnormality of the upper limb	2068	ERCC2	ORPHA:1466
HP:0002817	Abnormality of the upper limb	2073	ERCC5	ORPHA:1466
HP:0002817	Abnormality of the upper limb	134701	RIPPLY2	ORPHA:2311
HP:0002817	Abnormality of the upper limb	10683	DLL3	ORPHA:2311
HP:0002817	Abnormality of the upper limb	84667	HES7	ORPHA:2311
HP:0002817	Abnormality of the upper limb	145873	MESP2	ORPHA:2311
HP:0002817	Abnormality of the upper limb	4927	NUP88	ORPHA:994
HP:0002817	Abnormality of the upper limb	6572	SLC18A3	ORPHA:994
HP:0002817	Abnormality of the upper limb	23443	SLC35A3	OMIM:615553
HP:0002817	Abnormality of the upper limb	25914	RTTN	ORPHA:468631
HP:0002817	Abnormality of the upper limb	26092	TOR1AIP1	OMIM:617072
HP:0002817	Abnormality of the upper limb	3481	IGF2	ORPHA:231140
HP:0002817	Abnormality of the upper limb	283120	H19	ORPHA:231140
HP:0002817	Abnormality of the upper limb	5745	PTH1R	ORPHA:296
HP:0002817	Abnormality of the upper limb	3418	IDH2	ORPHA:296
HP:0002817	Abnormality of the upper limb	3417	IDH1	ORPHA:296
HP:0002817	Abnormality of the upper limb	64840	PORCN	ORPHA:2092
HP:0002817	Abnormality of the upper limb	10682	EBP	ORPHA:35173
HP:0002817	Abnormality of the upper limb	4358	MPV17	OMIM:256810
HP:0002817	Abnormality of the upper limb	203068	TUBB	ORPHA:2505
HP:0002817	Abnormality of the upper limb	10982	MAPRE2	ORPHA:2505
HP:0002817	Abnormality of the upper limb	60	ACTB	ORPHA:64755
HP:0002817	Abnormality of the upper limb	55109	AGGF1	ORPHA:90308
HP:0002817	Abnormality of the upper limb	5290	PIK3CA	ORPHA:90308
HP:0002817	Abnormality of the upper limb	5744	PTHLH	ORPHA:93387
HP:0002817	Abnormality of the upper limb	3239	HOXD13	ORPHA:93387
HP:0002817	Abnormality of the upper limb	5728	PTEN	ORPHA:137608
HP:0002817	Abnormality of the upper limb	207	AKT1	ORPHA:744
HP:0002817	Abnormality of the upper limb	1080	CFTR	OMIM:219700
HP:0002817	Abnormality of the upper limb	2212	FCGR2A	OMIM:219700
HP:0002817	Abnormality of the upper limb	3071	NCKAP1L	OMIM:618982
HP:0002817	Abnormality of the upper limb	114548	NLRP3	OMIM:191900
HP:0002817	Abnormality of the upper limb	7015	TERT	OMIM:614742
HP:0002817	Abnormality of the upper limb	7015	TERT	ORPHA:2032
HP:0002817	Abnormality of the upper limb	7015	TERT	OMIM:178500
HP:0002817	Abnormality of the upper limb	6794	STK11	OMIM:175200
HP:0002817	Abnormality of the upper limb	987	LRBA	OMIM:614700
HP:0002817	Abnormality of the upper limb	6440	SFTPC	ORPHA:2032
HP:0002817	Abnormality of the upper limb	6440	SFTPC	OMIM:178500
HP:0002817	Abnormality of the upper limb	729238	SFTPA2	ORPHA:2032
HP:0002817	Abnormality of the upper limb	729238	SFTPA2	OMIM:178500
HP:0002817	Abnormality of the upper limb	79991	STN1	ORPHA:2032
HP:0002817	Abnormality of the upper limb	653509	SFTPA1	ORPHA:2032
HP:0002817	Abnormality of the upper limb	21	ABCA3	ORPHA:2032
HP:0002817	Abnormality of the upper limb	727897	MUC5B	ORPHA:2032
HP:0002817	Abnormality of the upper limb	727897	MUC5B	OMIM:178500
HP:0002817	Abnormality of the upper limb	10144	FAM13A	ORPHA:2032
HP:0002817	Abnormality of the upper limb	23250	ATP11A	ORPHA:2032
HP:0002817	Abnormality of the upper limb	91039	DPP9	ORPHA:2032
HP:0002817	Abnormality of the upper limb	51750	RTEL1	ORPHA:2032
HP:0002817	Abnormality of the upper limb	7012	TERC	ORPHA:2032
HP:0002817	Abnormality of the upper limb	5073	PARN	ORPHA:2032
HP:0002817	Abnormality of the upper limb	440275	EIF2AK4	ORPHA:199241
HP:0002817	Abnormality of the upper limb	1604	CD55	OMIM:226300
HP:0002817	Abnormality of the upper limb	10568	SLC34A2	ORPHA:60025
HP:0002817	Abnormality of the upper limb	8884	SLC5A6	OMIM:618973
HP:0002817	Abnormality of the upper limb	10125	RASGRP1	OMIM:618534
HP:0002817	Abnormality of the upper limb	59067	IL21	OMIM:615767
HP:0002817	Abnormality of the upper limb	27152	INTU	OMIM:617926
HP:0002817	Abnormality of the upper limb	7092	TLL1	ORPHA:99106
HP:0002817	Abnormality of the upper limb	64132	XYLT2	OMIM:605822
HP:0002817	Abnormality of the upper limb	10290	SPEG	ORPHA:169186
HP:0002817	Abnormality of the upper limb	57459	GATAD2B	OMIM:615074
HP:0002817	Abnormality of the upper limb	57459	GATAD2B	ORPHA:363686
HP:0002817	Abnormality of the upper limb	8367	H4C5	OMIM:619950
HP:0002817	Abnormality of the upper limb	1182	CLCN3	OMIM:619512
HP:0002817	Abnormality of the upper limb	9853	RUSC2	OMIM:617773
HP:0002817	Abnormality of the upper limb	6660	SOX5	OMIM:616803
HP:0002817	Abnormality of the upper limb	51520	LARS1	OMIM:615438
HP:0002817	Abnormality of the upper limb	54499	TMCO1	OMIM:213980
HP:0002817	Abnormality of the upper limb	11128	POLR3A	OMIM:264090
HP:0002817	Abnormality of the upper limb	11128	POLR3A	ORPHA:3455
HP:0002817	Abnormality of the upper limb	50814	NSDHL	ORPHA:251383
HP:0002817	Abnormality of the upper limb	116931	MED12L	OMIM:618872
HP:0002817	Abnormality of the upper limb	60676	PAPPA2	OMIM:619489
HP:0002817	Abnormality of the upper limb	1278	COL1A2	ORPHA:230851
HP:0002817	Abnormality of the upper limb	2624	GATA2	OMIM:614038
HP:0002817	Abnormality of the upper limb	9373	PLAA	ORPHA:521426
HP:0002817	Abnormality of the upper limb	9373	PLAA	OMIM:617527
HP:0002817	Abnormality of the upper limb	30008	EFEMP2	OMIM:614437
HP:0002817	Abnormality of the upper limb	9772	TMEM94	OMIM:618316
HP:0002817	Abnormality of the upper limb	7291	TWIST1	OMIM:617746
HP:0002817	Abnormality of the upper limb	79971	WLS	OMIM:619648
HP:0002817	Abnormality of the upper limb	2556	GABRA3	OMIM:301091
HP:0002817	Abnormality of the upper limb	1376	CPT2	OMIM:608836
HP:0002817	Abnormality of the upper limb	5373	PMM2	ORPHA:79318
HP:0002817	Abnormality of the upper limb	63035	BCORL1	OMIM:301029
HP:0002817	Abnormality of the upper limb	10265	IRX5	OMIM:611174
HP:0002817	Abnormality of the upper limb	6611	SMS	OMIM:309583
HP:0002817	Abnormality of the upper limb	79087	ALG12	ORPHA:79324
HP:0002817	Abnormality of the upper limb	1795	DOCK3	OMIM:618292
HP:0002817	Abnormality of the upper limb	7703	PCGF2	OMIM:618371
HP:0002817	Abnormality of the upper limb	8726	EED	OMIM:617561
HP:0002817	Abnormality of the upper limb	57178	ZMIZ1	OMIM:618659
HP:0002817	Abnormality of the upper limb	92949	ADAMTSL1	ORPHA:521445
HP:0002817	Abnormality of the upper limb	4929	NR4A2	ORPHA:1617
HP:0002817	Abnormality of the upper limb	10716	TBR1	ORPHA:1617
HP:0002817	Abnormality of the upper limb	64864	RFX7	OMIM:620330
HP:0002817	Abnormality of the upper limb	94	ACVRL1	OMIM:600376
HP:0002817	Abnormality of the upper limb	54345	SOX18	ORPHA:69735
HP:0002817	Abnormality of the upper limb	54345	SOX18	OMIM:607823
HP:0002817	Abnormality of the upper limb	2859	GPR35	ORPHA:171
HP:0002817	Abnormality of the upper limb	10507	SEMA4D	ORPHA:171
HP:0002817	Abnormality of the upper limb	4485	MST1	ORPHA:171
HP:0002817	Abnormality of the upper limb	283989	TSEN54	ORPHA:2524
HP:0002817	Abnormality of the upper limb	116461	TSEN15	ORPHA:2524
HP:0002817	Abnormality of the upper limb	79042	TSEN34	ORPHA:2524
HP:0002817	Abnormality of the upper limb	80746	TSEN2	ORPHA:2524
HP:0002817	Abnormality of the upper limb	51091	SEPSECS	ORPHA:2524
HP:0002817	Abnormality of the upper limb	55149	MTPAP	OMIM:613672
HP:0002817	Abnormality of the upper limb	55149	MTPAP	ORPHA:254343
HP:0002817	Abnormality of the upper limb	9997	SCO2	OMIM:604377
HP:0002817	Abnormality of the upper limb	6687	SPG7	OMIM:607259
HP:0002817	Abnormality of the upper limb	137492	VPS37A	ORPHA:319199
HP:0002817	Abnormality of the upper limb	137492	VPS37A	OMIM:614898
HP:0002817	Abnormality of the upper limb	5010	CLDN11	OMIM:619328
HP:0002817	Abnormality of the upper limb	26128	KIFBP	OMIM:609460
HP:0002817	Abnormality of the upper limb	9698	PUM1	OMIM:617931
HP:0002817	Abnormality of the upper limb	9698	PUM1	OMIM:620719
HP:0002817	Abnormality of the upper limb	781	CACNA2D1	OMIM:620149
HP:0002817	Abnormality of the upper limb	123263	MTFMT	OMIM:614947
HP:0002817	Abnormality of the upper limb	84320	ACBD6	OMIM:620785
HP:0002817	Abnormality of the upper limb	27125	AFF4	ORPHA:444077
HP:0002817	Abnormality of the upper limb	22854	NTNG1	ORPHA:3095
HP:0002817	Abnormality of the upper limb	9568	GABBR2	ORPHA:3095
HP:0002817	Abnormality of the upper limb	9568	GABBR2	OMIM:617903
HP:0002817	Abnormality of the upper limb	4204	MECP2	ORPHA:3095
HP:0002817	Abnormality of the upper limb	4204	MECP2	OMIM:300055
HP:0002817	Abnormality of the upper limb	79868	ALG13	OMIM:300884
HP:0002817	Abnormality of the upper limb	1062	CENPE	OMIM:616051
HP:0002817	Abnormality of the upper limb	6651	SON	OMIM:617140
HP:0002817	Abnormality of the upper limb	6492	SIM1	ORPHA:398079
HP:0002817	Abnormality of the upper limb	55784	MCTP2	ORPHA:1596
HP:0002817	Abnormality of the upper limb	8085	KMT2D	ORPHA:2322
HP:0002817	Abnormality of the upper limb	7403	KDM6A	ORPHA:2322
HP:0002817	Abnormality of the upper limb	9382	COG1	OMIM:611209
HP:0002817	Abnormality of the upper limb	4948	OCA2	ORPHA:177904
HP:0002817	Abnormality of the upper limb	4948	OCA2	ORPHA:177901
HP:0002817	Abnormality of the upper limb	4948	OCA2	ORPHA:98754
HP:0002817	Abnormality of the upper limb	2590	GALNT2	OMIM:618885
HP:0002817	Abnormality of the upper limb	3064	HTT	OMIM:617435
HP:0002817	Abnormality of the upper limb	6578	SLCO2A1	ORPHA:2796
HP:0002817	Abnormality of the upper limb	6045	RNF2	OMIM:619460
HP:0002817	Abnormality of the upper limb	1501	CTNND2	ORPHA:281
HP:0002817	Abnormality of the upper limb	9037	SEMA5A	ORPHA:281
HP:0002817	Abnormality of the upper limb	6304	SATB1	OMIM:619229
HP:0002817	Abnormality of the upper limb	6602	SMARCD1	OMIM:618779
HP:0002817	Abnormality of the upper limb	1974	EIF4A2	OMIM:620455
HP:0002817	Abnormality of the upper limb	2697	GJA1	OMIM:257850
HP:0002817	Abnormality of the upper limb	3981	LIG4	ORPHA:235
HP:0002817	Abnormality of the upper limb	54888	NSUN2	ORPHA:235
HP:0002817	Abnormality of the upper limb	55768	NGLY1	OMIM:615273
HP:0002817	Abnormality of the upper limb	7874	USP7	ORPHA:500055
HP:0002817	Abnormality of the upper limb	8493	PPM1D	OMIM:617450
HP:0002817	Abnormality of the upper limb	8558	CDK10	OMIM:617694
HP:0002817	Abnormality of the upper limb	9894	TELO2	ORPHA:488642
HP:0002817	Abnormality of the upper limb	80232	WDR26	OMIM:617616
HP:0002817	Abnormality of the upper limb	259232	NALCN	ORPHA:371364
HP:0002817	Abnormality of the upper limb	285175	UNC80	ORPHA:371364
HP:0002817	Abnormality of the upper limb	7486	WRN	ORPHA:902
HP:0002817	Abnormality of the upper limb	23556	PIGN	ORPHA:280633
HP:0002817	Abnormality of the upper limb	3800	KIF5C	OMIM:615282
HP:0002817	Abnormality of the upper limb	4849	CNOT3	OMIM:618672
HP:0002817	Abnormality of the upper limb	81887	LAS1L	ORPHA:3459
HP:0002817	Abnormality of the upper limb	2332	FMR1	ORPHA:261483
HP:0002817	Abnormality of the upper limb	388662	SLC6A17	OMIM:616269
HP:0002817	Abnormality of the upper limb	23219	FBXO28	OMIM:619777
HP:0002817	Abnormality of the upper limb	5557	PRIM1	OMIM:620005
HP:0002817	Abnormality of the upper limb	64131	XYLT1	ORPHA:1425
HP:0002817	Abnormality of the upper limb	1513	CTSK	ORPHA:763
HP:0002817	Abnormality of the upper limb	406932	MIR140	OMIM:618618
HP:0002817	Abnormality of the upper limb	25886	POC1A	OMIM:614813
HP:0002817	Abnormality of the upper limb	78987	CRELD1	OMIM:620771
HP:0002817	Abnormality of the upper limb	1801	DPH1	ORPHA:459061
HP:0002817	Abnormality of the upper limb	1802	DPH2	ORPHA:459061
HP:0002817	Abnormality of the upper limb	3762	KCNJ5	ORPHA:37553
HP:0002817	Abnormality of the upper limb	84181	CHD6	ORPHA:2108
HP:0002817	Abnormality of the upper limb	10075	HUWE1	OMIM:309590
HP:0002818	Abnormal morphology of the radius	5573	PRKAR1A	ORPHA:950
HP:0002818	Abnormal morphology of the radius	5144	PDE4D	ORPHA:950
HP:0002818	Abnormal morphology of the radius	6473	SHOX	ORPHA:240
HP:0002818	Abnormal morphology of the radius	10082	GPC6	ORPHA:93329
HP:0002818	Abnormal morphology of the radius	8200	GDF5	ORPHA:2639
HP:0002818	Abnormal morphology of the radius	658	BMPR1B	ORPHA:2639
HP:0002818	Abnormal morphology of the radius	57167	SALL4	ORPHA:959
HP:0002818	Abnormal morphology of the radius	2317	FLNB	ORPHA:1263
HP:0002818	Abnormal morphology of the radius	7040	TGFB1	ORPHA:1328
HP:0002818	Abnormal morphology of the radius	6926	TBX3	ORPHA:3138
HP:0002818	Abnormal morphology of the radius	7291	TWIST1	ORPHA:794
HP:0002818	Abnormal morphology of the radius	7291	TWIST1	OMIM:101400
HP:0002818	Abnormal morphology of the radius	2263	FGFR2	ORPHA:794
HP:0002818	Abnormal morphology of the radius	2263	FGFR2	OMIM:101400
HP:0002818	Abnormal morphology of the radius	2261	FGFR3	ORPHA:794
HP:0002818	Abnormal morphology of the radius	23476	BRD4	ORPHA:199
HP:0002818	Abnormal morphology of the radius	9126	SMC3	ORPHA:199
HP:0002818	Abnormal morphology of the radius	8243	SMC1A	ORPHA:199
HP:0002818	Abnormal morphology of the radius	6878	TAF6	ORPHA:199
HP:0002818	Abnormal morphology of the radius	25836	NIPBL	ORPHA:199
HP:0002818	Abnormal morphology of the radius	55869	HDAC8	ORPHA:199
HP:0002818	Abnormal morphology of the radius	5885	RAD21	ORPHA:199
HP:0002818	Abnormal morphology of the radius	5885	RAD21	OMIM:614701
HP:0002818	Abnormal morphology of the radius	11285	B4GALT7	OMIM:130070
HP:0002818	Abnormal morphology of the radius	4091	SMAD6	OMIM:179300
HP:0002818	Abnormal morphology of the radius	10262	SF3B4	OMIM:154400
HP:0002818	Abnormal morphology of the radius	10262	SF3B4	ORPHA:1788
HP:0002818	Abnormal morphology of the radius	5447	POR	OMIM:201750
HP:0002818	Abnormal morphology of the radius	5447	POR	ORPHA:95699
HP:0002818	Abnormal morphology of the radius	6910	TBX5	ORPHA:392
HP:0002818	Abnormal morphology of the radius	6910	TBX5	OMIM:142900
HP:0002818	Abnormal morphology of the radius	5648	MASP1	OMIM:257920
HP:0002818	Abnormal morphology of the radius	5648	MASP1	ORPHA:293843
HP:0002818	Abnormal morphology of the radius	6154	RPL26	OMIM:614900
HP:0002818	Abnormal morphology of the radius	6804	STX1A	ORPHA:904
HP:0002818	Abnormal morphology of the radius	7461	CLIP2	ORPHA:904
HP:0002818	Abnormal morphology of the radius	84277	DNAJC30	ORPHA:904
HP:0002818	Abnormal morphology of the radius	8468	FKBP6	ORPHA:904
HP:0002818	Abnormal morphology of the radius	5982	RFC2	ORPHA:904
HP:0002818	Abnormal morphology of the radius	2969	GTF2I	ORPHA:904
HP:0002818	Abnormal morphology of the radius	3984	LIMK1	ORPHA:904
HP:0002818	Abnormal morphology of the radius	9569	GTF2IRD1	ORPHA:904
HP:0002818	Abnormal morphology of the radius	155382	VPS37D	ORPHA:904
HP:0002818	Abnormal morphology of the radius	155368	METTL27	ORPHA:904
HP:0002818	Abnormal morphology of the radius	114049	BUD23	ORPHA:904
HP:0002818	Abnormal morphology of the radius	7458	EIF4H	ORPHA:904
HP:0002818	Abnormal morphology of the radius	84163	GTF2IRD2	ORPHA:904
HP:0002818	Abnormal morphology of the radius	26608	TBL2	ORPHA:904
HP:0002818	Abnormal morphology of the radius	653361	NCF1	ORPHA:904
HP:0002818	Abnormal morphology of the radius	135886	TMEM270	ORPHA:904
HP:0002818	Abnormal morphology of the radius	9031	BAZ1B	ORPHA:904
HP:0002818	Abnormal morphology of the radius	2006	ELN	ORPHA:904
HP:0002818	Abnormal morphology of the radius	2006	ELN	OMIM:194050
HP:0002818	Abnormal morphology of the radius	2122	MECOM	ORPHA:71289
HP:0002818	Abnormal morphology of the radius	2122	MECOM	OMIM:616738
HP:0002818	Abnormal morphology of the radius	3207	HOXA11	ORPHA:71289
HP:0002818	Abnormal morphology of the radius	157570	ESCO2	ORPHA:3103
HP:0002818	Abnormal morphology of the radius	157570	ESCO2	ORPHA:2319
HP:0002818	Abnormal morphology of the radius	78989	COLEC11	OMIM:265050
HP:0002818	Abnormal morphology of the radius	78989	COLEC11	ORPHA:293843
HP:0002818	Abnormal morphology of the radius	54880	BCOR	OMIM:300166
HP:0002818	Abnormal morphology of the radius	54880	BCOR	ORPHA:2712
HP:0002818	Abnormal morphology of the radius	4094	MAF	ORPHA:1272
HP:0002818	Abnormal morphology of the radius	4094	MAF	OMIM:601088
HP:0002818	Abnormal morphology of the radius	29998	BICRA	OMIM:619325
HP:0002818	Abnormal morphology of the radius	23522	KAT6B	ORPHA:85201
HP:0002818	Abnormal morphology of the radius	23522	KAT6B	OMIM:606170
HP:0002818	Abnormal morphology of the radius	1723	DHODH	OMIM:263750
HP:0002818	Abnormal morphology of the radius	51085	MLXIPL	OMIM:194050
HP:0002818	Abnormal morphology of the radius	4038	LRP4	ORPHA:3258
HP:0002818	Abnormal morphology of the radius	4038	LRP4	OMIM:212780
HP:0002818	Abnormal morphology of the radius	324	APC	ORPHA:3258
HP:0002818	Abnormal morphology of the radius	63895	PIEZO2	OMIM:248700
HP:0002818	Abnormal morphology of the radius	63895	PIEZO2	ORPHA:2461
HP:0002818	Abnormal morphology of the radius	126792	B3GALT6	ORPHA:536467
HP:0002818	Abnormal morphology of the radius	10584	COLEC10	OMIM:248340
HP:0002818	Abnormal morphology of the radius	10584	COLEC10	ORPHA:293843
HP:0002818	Abnormal morphology of the radius	50945	TBX22	OMIM:302905
HP:0002818	Abnormal morphology of the radius	50945	TBX22	ORPHA:921
HP:0002818	Abnormal morphology of the radius	22800	RRAS2	ORPHA:648
HP:0002818	Abnormal morphology of the radius	867	CBL	ORPHA:648
HP:0002818	Abnormal morphology of the radius	8216	LZTR1	ORPHA:648
HP:0002818	Abnormal morphology of the radius	6016	RIT1	ORPHA:648
HP:0002818	Abnormal morphology of the radius	6237	RRAS	ORPHA:648
HP:0002818	Abnormal morphology of the radius	5894	RAF1	ORPHA:648
HP:0002818	Abnormal morphology of the radius	22808	MRAS	ORPHA:648
HP:0002818	Abnormal morphology of the radius	3845	KRAS	ORPHA:648
HP:0002818	Abnormal morphology of the radius	200734	SPRED2	ORPHA:648
HP:0002818	Abnormal morphology of the radius	4893	NRAS	ORPHA:648
HP:0002818	Abnormal morphology of the radius	6654	SOS1	ORPHA:648
HP:0002818	Abnormal morphology of the radius	6655	SOS2	ORPHA:648
HP:0002818	Abnormal morphology of the radius	5781	PTPN11	ORPHA:648
HP:0002818	Abnormal morphology of the radius	5922	RASA2	ORPHA:648
HP:0002818	Abnormal morphology of the radius	22856	CHSY1	OMIM:605282
HP:0002818	Abnormal morphology of the radius	64131	XYLT1	ORPHA:1425
HP:0002818	Abnormal morphology of the radius	124583	CANT1	ORPHA:1425
HP:0002818	Abnormal morphology of the radius	55790	CSGALNACT1	ORPHA:1425
HP:0002818	Abnormal morphology of the radius	9469	CHST3	OMIM:245600
HP:0002818	Abnormal morphology of the radius	26229	B3GAT3	OMIM:245600
HP:0002818	Abnormal morphology of the radius	29980	DONSON	OMIM:617604
HP:0002818	Abnormal morphology of the radius	7468	NSD2	OMIM:194190
HP:0002818	Abnormal morphology of the radius	10815	CPLX1	OMIM:194190
HP:0002818	Abnormal morphology of the radius	1487	CTBP1	OMIM:194190
HP:0002818	Abnormal morphology of the radius	53834	FGFRL1	OMIM:194190
HP:0002818	Abnormal morphology of the radius	3954	LETM1	OMIM:194190
HP:0002818	Abnormal morphology of the radius	26040	SETBP1	ORPHA:798
HP:0002818	Abnormal morphology of the radius	9935	MAFB	ORPHA:233
HP:0002818	Abnormal morphology of the radius	1123	CHN1	ORPHA:233
HP:0002818	Abnormal morphology of the radius	4882	NPR2	OMIM:602875
HP:0002818	Abnormal morphology of the radius	28981	IFT81	OMIM:617895
HP:0002818	Abnormal morphology of the radius	92002	CCNQ	ORPHA:140952
HP:0002818	Abnormal morphology of the radius	2255	FGF10	ORPHA:2363
HP:0002818	Abnormal morphology of the radius	9321	TRIP11	OMIM:200600
HP:0002818	Abnormal morphology of the radius	9939	RBM8A	OMIM:274000
HP:0002818	Abnormal morphology of the radius	6223	RPS19	OMIM:105650
HP:0002818	Abnormal morphology of the radius	79087	ALG12	OMIM:607143
HP:0002818	Abnormal morphology of the radius	3549	IHH	OMIM:607778
HP:0002818	Abnormal morphology of the radius	9775	EIF4A3	OMIM:268305
HP:0002818	Abnormal morphology of the radius	8241	RBM10	OMIM:311900
HP:0002818	Abnormal morphology of the radius	1301	COL11A1	OMIM:154780
HP:0002818	Abnormal morphology of the radius	1280	COL2A1	OMIM:151210
HP:0002818	Abnormal morphology of the radius	8074	FGF23	OMIM:617993
HP:0002818	Abnormal morphology of the radius	5593	PRKG2	OMIM:619636
HP:0002818	Abnormal morphology of the radius	59341	TRPV4	ORPHA:93314
HP:0002818	Abnormal morphology of the radius	91147	TMEM67	OMIM:602152
HP:0002818	Abnormal morphology of the radius	567	B2M	OMIM:241600
HP:0002818	Abnormal morphology of the radius	112752	IFT43	OMIM:617866
HP:0002818	Abnormal morphology of the radius	3930	LBR	OMIM:618019
HP:0002818	Abnormal morphology of the radius	5116	PCNT	OMIM:210720
HP:0002818	Abnormal morphology of the radius	64175	P3H1	OMIM:610915
HP:0002818	Abnormal morphology of the radius	9791	PTDSS1	OMIM:151050
HP:0002818	Abnormal morphology of the radius	6913	TBX15	OMIM:260660
HP:0002818	Abnormal morphology of the radius	6913	TBX15	ORPHA:93333
HP:0002818	Abnormal morphology of the radius	9241	NOG	OMIM:186570
HP:0002818	Abnormal morphology of the radius	2260	FGFR1	OMIM:101600
HP:0002818	Abnormal morphology of the radius	7476	WNT7A	ORPHA:2879
HP:0002818	Abnormal morphology of the radius	7476	WNT7A	OMIM:276820
HP:0002818	Abnormal morphology of the radius	56603	CYP26B1	OMIM:614416
HP:0002818	Abnormal morphology of the radius	2254	FGF9	OMIM:612961
HP:0002818	Abnormal morphology of the radius	2131	EXT1	OMIM:133700
HP:0002818	Abnormal morphology of the radius	2132	EXT2	OMIM:133701
HP:0002818	Abnormal morphology of the radius	1182	CLCN3	OMIM:619512
HP:0002818	Abnormal morphology of the radius	85301	COL27A1	OMIM:615155
HP:0002818	Abnormal morphology of the radius	2033	EP300	OMIM:180849
HP:0002818	Abnormal morphology of the radius	1387	CREBBP	OMIM:180849
HP:0002818	Abnormal morphology of the radius	6885	MAP3K7	OMIM:617137
HP:0002818	Abnormal morphology of the radius	6885	MAP3K7	ORPHA:1826
HP:0002818	Abnormal morphology of the radius	90459	ERI1	OMIM:620663
HP:0002818	Abnormal morphology of the radius	145258	GSC	OMIM:602471
HP:0002818	Abnormal morphology of the radius	10847	SRCAP	OMIM:136140
HP:0002818	Abnormal morphology of the radius	10847	SRCAP	ORPHA:2044
HP:0002818	Abnormal morphology of the radius	91179	SCARF2	OMIM:600920
HP:0002818	Abnormal morphology of the radius	8318	CDC45	OMIM:617063
HP:0002818	Abnormal morphology of the radius	23233	EXOC6B	OMIM:618395
HP:0002818	Abnormal morphology of the radius	2137	EXTL3	OMIM:617425
HP:0002818	Abnormal morphology of the radius	6662	SOX9	OMIM:114290
HP:0002818	Abnormal morphology of the radius	10225	CD96	OMIM:211750
HP:0002818	Abnormal morphology of the radius	10225	CD96	ORPHA:1308
HP:0002818	Abnormal morphology of the radius	2067	ERCC1	OMIM:610758
HP:0002818	Abnormal morphology of the radius	2535	FZD2	OMIM:164745
HP:0002818	Abnormal morphology of the radius	4920	ROR2	OMIM:268310
HP:0002818	Abnormal morphology of the radius	1146	CHRNG	OMIM:265000
HP:0002818	Abnormal morphology of the radius	6497	SKI	OMIM:182212
HP:0002818	Abnormal morphology of the radius	2316	FLNA	OMIM:305620
HP:0002818	Abnormal morphology of the radius	2316	FLNA	ORPHA:1826
HP:0002818	Abnormal morphology of the radius	2316	FLNA	OMIM:311300
HP:0002818	Abnormal morphology of the radius	3835	KIF22	OMIM:603546
HP:0002818	Abnormal morphology of the radius	57492	ARID1B	OMIM:135900
HP:0002818	Abnormal morphology of the radius	3899	AFF3	OMIM:619297
HP:0002818	Abnormal morphology of the radius	4853	NOTCH2	OMIM:102500
HP:0002818	Abnormal morphology of the radius	100151683	RNU4ATAC	ORPHA:1824
HP:0002818	Abnormal morphology of the radius	7474	WNT5A	OMIM:180700
HP:0002818	Abnormal morphology of the radius	1855	DVL1	OMIM:180700
HP:0002818	Abnormal morphology of the radius	1289	COL5A1	ORPHA:287
HP:0002818	Abnormal morphology of the radius	1290	COL5A2	ORPHA:287
HP:0002818	Abnormal morphology of the radius	3897	L1CAM	OMIM:304100
HP:0002818	Abnormal morphology of the radius	171023	ASXL1	OMIM:605039
HP:0002818	Abnormal morphology of the radius	91252	SLC39A13	OMIM:612350
HP:0002818	Abnormal morphology of the radius	545	ATR	OMIM:210600
HP:0002818	Abnormal morphology of the radius	649	BMP1	OMIM:614856
HP:0002818	Abnormal morphology of the radius	7547	ZIC3	OMIM:314390
HP:0002818	Abnormal morphology of the radius	54101	RIPK4	OMIM:263650
HP:0002818	Abnormal morphology of the radius	55636	CHD7	OMIM:214800
HP:0002818	Abnormal morphology of the radius	202018	TAPT1	OMIM:616897
HP:0002818	Abnormal morphology of the radius	9401	RECQL4	ORPHA:221016
HP:0002818	Abnormal morphology of the radius	64682	ANAPC1	ORPHA:221008
HP:0002818	Abnormal morphology of the radius	1297	COL9A1	ORPHA:166002
HP:0002818	Abnormal morphology of the radius	1298	COL9A2	ORPHA:166002
HP:0002818	Abnormal morphology of the radius	1299	COL9A3	ORPHA:166002
HP:0002818	Abnormal morphology of the radius	633	BGN	OMIM:300106
HP:0002818	Abnormal morphology of the radius	1836	SLC26A2	ORPHA:93307
HP:0002818	Abnormal morphology of the radius	1311	COMP	OMIM:177170
HP:0002818	Abnormal morphology of the radius	1300	COL10A1	ORPHA:174
HP:0002818	Abnormal morphology of the radius	54809	SAMD9	OMIM:617053
HP:0002818	Abnormal morphology of the radius	2737	GLI3	ORPHA:93322
HP:0002818	Abnormal morphology of the radius	387733	IFITM5	OMIM:610967
HP:0002818	Abnormal morphology of the radius	64135	IFIH1	OMIM:182250
HP:0002818	Abnormal morphology of the radius	4010	LMX1B	OMIM:161200
HP:0002818	Abnormal morphology of the radius	5888	RAD51	OMIM:617244
HP:0002818	Abnormal morphology of the radius	27125	AFF4	ORPHA:444077
HP:0002818	Abnormal morphology of the radius	5980	REV3L	ORPHA:570
HP:0002818	Abnormal morphology of the radius	23129	PLXND1	ORPHA:570
HP:0002818	Abnormal morphology of the radius	4318	MMP9	ORPHA:1040
HP:0002818	Abnormal morphology of the radius	4322	MMP13	ORPHA:1040
HP:0002818	Abnormal morphology of the radius	7140	TNNT3	ORPHA:1147
HP:0002818	Abnormal morphology of the radius	4621	MYH3	ORPHA:1147
HP:0002818	Abnormal morphology of the radius	7169	TPM2	ORPHA:1147
HP:0002818	Abnormal morphology of the radius	259232	NALCN	ORPHA:1147
HP:0002818	Abnormal morphology of the radius	7136	TNNI2	ORPHA:1147
HP:0002818	Abnormal morphology of the radius	672	BRCA1	ORPHA:84
HP:0002818	Abnormal morphology of the radius	10459	MAD2L2	ORPHA:84
HP:0002818	Abnormal morphology of the radius	7516	XRCC2	ORPHA:84
HP:0002818	Abnormal morphology of the radius	29089	UBE2T	ORPHA:84
HP:0002818	Abnormal morphology of the radius	675	BRCA2	ORPHA:84
HP:0002818	Abnormal morphology of the radius	55120	FANCL	ORPHA:84
HP:0002818	Abnormal morphology of the radius	2177	FANCD2	ORPHA:84
HP:0002818	Abnormal morphology of the radius	2175	FANCA	ORPHA:84
HP:0002818	Abnormal morphology of the radius	2187	FANCB	ORPHA:84
HP:0002818	Abnormal morphology of the radius	2176	FANCC	ORPHA:84
HP:0002818	Abnormal morphology of the radius	2178	FANCE	ORPHA:84
HP:0002818	Abnormal morphology of the radius	2188	FANCF	ORPHA:84
HP:0002818	Abnormal morphology of the radius	2189	FANCG	ORPHA:84
HP:0002818	Abnormal morphology of the radius	5889	RAD51C	ORPHA:84
HP:0002818	Abnormal morphology of the radius	55159	RFWD3	ORPHA:84
HP:0002818	Abnormal morphology of the radius	83990	BRIP1	ORPHA:84
HP:0002818	Abnormal morphology of the radius	57697	FANCM	ORPHA:84
HP:0002818	Abnormal morphology of the radius	79728	PALB2	ORPHA:84
HP:0002818	Abnormal morphology of the radius	84464	SLX4	ORPHA:84
HP:0002818	Abnormal morphology of the radius	2072	ERCC4	ORPHA:84
HP:0002818	Abnormal morphology of the radius	55215	FANCI	ORPHA:84
HP:0002818	Abnormal morphology of the radius	3239	HOXD13	ORPHA:887
HP:0002818	Abnormal morphology of the radius	60681	FKBP10	ORPHA:1149
HP:0002818	Abnormal morphology of the radius	9555	MACROH2A1	ORPHA:1275
HP:0002818	Abnormal morphology of the radius	5307	PITX1	ORPHA:1275
HP:0002818	Abnormal morphology of the radius	1717	DHCR7	ORPHA:818
HP:0002818	Abnormal morphology of the radius	64327	LMBR1	ORPHA:93321
HP:0002818	Abnormal morphology of the radius	6469	SHH	ORPHA:93321
HP:0002818	Abnormal morphology of the radius	7204	TRIO	ORPHA:476126
HP:0002818	Abnormal morphology of the radius	1277	COL1A1	OMIM:114000
HP:0003974	Absent radius	57167	SALL4	ORPHA:233
HP:0003974	Absent radius	57167	SALL4	OMIM:607323
HP:0003974	Absent radius	9935	MAFB	ORPHA:233
HP:0003974	Absent radius	1123	CHN1	ORPHA:233
HP:0003974	Absent radius	64327	LMBR1	OMIM:200500
HP:0003974	Absent radius	64327	LMBR1	ORPHA:2378
HP:0003974	Absent radius	64327	LMBR1	OMIM:135750
HP:0003974	Absent radius	64327	LMBR1	ORPHA:931
HP:0003974	Absent radius	2177	FANCD2	OMIM:227646
HP:0003974	Absent radius	2176	FANCC	OMIM:227645
HP:0003974	Absent radius	10262	SF3B4	OMIM:154400
HP:0003974	Absent radius	55120	FANCL	OMIM:614083
HP:0003974	Absent radius	2263	FGFR2	OMIM:149730
HP:0003974	Absent radius	9939	RBM8A	ORPHA:3320
HP:0003974	Absent radius	9939	RBM8A	OMIM:274000
HP:0003974	Absent radius	157570	ESCO2	OMIM:268300
HP:0003974	Absent radius	2317	FLNB	ORPHA:56305
HP:0003974	Absent radius	2317	FLNB	OMIM:112310
HP:0003974	Absent radius	6910	TBX5	OMIM:142900
HP:0003974	Absent radius	9401	RECQL4	OMIM:218600
HP:0003974	Absent radius	6926	TBX3	OMIM:181450
HP:0003974	Absent radius	7547	ZIC3	OMIM:314390
HP:0003974	Absent radius	2187	FANCB	OMIM:314390
HP:0003974	Absent radius	2178	FANCE	OMIM:600901
HP:0003974	Absent radius	54101	RIPK4	OMIM:263650
HP:0003974	Absent radius	2175	FANCA	OMIM:227650
HP:0003974	Absent radius	55215	FANCI	OMIM:609053
HP:0003974	Absent radius	7516	XRCC2	OMIM:617247
HP:0003974	Absent radius	55636	CHD7	OMIM:214800
HP:0003974	Absent radius	29980	DONSON	OMIM:251230
HP:0003974	Absent radius	2737	GLI3	ORPHA:93322
HP:0003974	Absent radius	6154	RPL26	OMIM:614900
HP:0003974	Absent radius	7204	TRIO	ORPHA:476126
HP:0001176	Large hands	6197	RPS6KA3	ORPHA:192
HP:0001176	Large hands	6197	RPS6KA3	ORPHA:276630
HP:0001176	Large hands	8925	HERC1	OMIM:617011
HP:0001176	Large hands	5447	POR	OMIM:201750
HP:0001176	Large hands	23512	SUZ12	OMIM:618786
HP:0001176	Large hands	23512	SUZ12	ORPHA:3447
HP:0001176	Large hands	9158	FIBP	ORPHA:500095
HP:0001176	Large hands	9158	FIBP	OMIM:617107
HP:0001176	Large hands	26580	BSCL2	OMIM:269700
HP:0001176	Large hands	26580	BSCL2	ORPHA:528
HP:0001176	Large hands	100151683	RNU4ATAC	OMIM:210710
HP:0001176	Large hands	100151683	RNU4ATAC	ORPHA:2636
HP:0001176	Large hands	3643	INSR	ORPHA:508
HP:0001176	Large hands	3643	INSR	OMIM:246200
HP:0001176	Large hands	5189	PEX1	ORPHA:3220
HP:0001176	Large hands	5190	PEX6	ORPHA:3220
HP:0001176	Large hands	85358	SHANK3	OMIM:606232
HP:0001176	Large hands	11128	POLR3A	OMIM:264090
HP:0001176	Large hands	64324	NSD1	ORPHA:821
HP:0001176	Large hands	64324	NSD1	OMIM:117550
HP:0001176	Large hands	64324	NSD1	ORPHA:3447
HP:0001176	Large hands	10297	APC2	ORPHA:821
HP:0001176	Large hands	55690	PACS1	OMIM:615009
HP:0001176	Large hands	4221	MEN1	ORPHA:99725
HP:0001176	Large hands	9049	AIP	ORPHA:99725
HP:0001176	Large hands	9049	AIP	ORPHA:963
HP:0001176	Large hands	8242	KDM5C	OMIM:300534
HP:0001176	Large hands	440	ASNS	OMIM:615574
HP:0001176	Large hands	9487	PIGL	OMIM:280000
HP:0001176	Large hands	23133	PHF8	ORPHA:85287
HP:0001176	Large hands	23133	PHF8	OMIM:300263
HP:0001176	Large hands	2146	EZH2	OMIM:277590
HP:0001176	Large hands	2146	EZH2	ORPHA:3447
HP:0001176	Large hands	5468	PPARG	ORPHA:528
HP:0001176	Large hands	10555	AGPAT2	ORPHA:528
HP:0001176	Large hands	10555	AGPAT2	OMIM:608594
HP:0001176	Large hands	284119	CAVIN1	ORPHA:528
HP:0001176	Large hands	2353	FOS	ORPHA:528
HP:0001176	Large hands	857	CAV1	ORPHA:528
HP:0001176	Large hands	83550	GPR101	ORPHA:963
HP:0001176	Large hands	6390	SDHB	OMIM:606764
HP:0001176	Large hands	6391	SDHC	OMIM:606764
HP:0001176	Large hands	3815	KIT	OMIM:606764
HP:0001176	Large hands	8726	EED	OMIM:617561
HP:0001176	Large hands	4763	NF1	ORPHA:363700
HP:0001176	Large hands	4763	NF1	ORPHA:97685
HP:0001176	Large hands	372	ARCN1	OMIM:617164
HP:0001176	Large hands	7543	ZFX	OMIM:301118
HP:0002821	Neuropathic arthropathy	25923	ATL3	OMIM:615632
HP:0002821	Neuropathic arthropathy	25923	ATL3	ORPHA:36386
HP:0002821	Neuropathic arthropathy	8518	ELP1	OMIM:223900
HP:0002821	Neuropathic arthropathy	4914	NTRK1	ORPHA:642
HP:0002821	Neuropathic arthropathy	4914	NTRK1	OMIM:256800
HP:0002821	Neuropathic arthropathy	10558	SPTLC1	ORPHA:36386
HP:0002821	Neuropathic arthropathy	9517	SPTLC2	ORPHA:36386
HP:0002821	Neuropathic arthropathy	51062	ATL1	ORPHA:36386
HP:0002822	Hyperplasia of the femoral trochanters	59341	TRPV4	OMIM:156530
HP:0002822	Hyperplasia of the femoral trochanters	126792	B3GALT6	OMIM:615349
HP:0002822	Hyperplasia of the femoral trochanters	126792	B3GALT6	OMIM:271640
HP:0002823	Abnormal femur morphology	64374	SIL1	OMIM:248800
HP:0002823	Abnormal femur morphology	64374	SIL1	ORPHA:559
HP:0002823	Abnormal femur morphology	7355	SLC35A2	ORPHA:356961
HP:0002823	Abnormal femur morphology	4897	NRCAM	OMIM:619833
HP:0002823	Abnormal femur morphology	347734	SLC35B2	OMIM:620269
HP:0002823	Abnormal femur morphology	2720	GLB1	OMIM:230600
HP:0002823	Abnormal femur morphology	2720	GLB1	OMIM:253010
HP:0002823	Abnormal femur morphology	538	ATP7A	OMIM:304150
HP:0002823	Abnormal femur morphology	538	ATP7A	ORPHA:198
HP:0002823	Abnormal femur morphology	546	ATRX	OMIM:301040
HP:0002823	Abnormal femur morphology	55593	OTUD5	OMIM:301056
HP:0002823	Abnormal femur morphology	65267	WNK3	OMIM:309610
HP:0002823	Abnormal femur morphology	613	BCR	ORPHA:261330
HP:0002823	Abnormal femur morphology	1399	CRKL	ORPHA:261330
HP:0002823	Abnormal femur morphology	5594	MAPK1	ORPHA:261330
HP:0002823	Abnormal femur morphology	2137	EXTL3	OMIM:617425
HP:0002823	Abnormal femur morphology	4000	LMNA	OMIM:248370
HP:0002823	Abnormal femur morphology	4000	LMNA	ORPHA:740
HP:0002823	Abnormal femur morphology	3764	KCNJ8	ORPHA:1517
HP:0002823	Abnormal femur morphology	55768	NGLY1	ORPHA:404454
HP:0002823	Abnormal femur morphology	79158	GNPTAB	OMIM:252500
HP:0002823	Abnormal femur morphology	9382	COG1	ORPHA:263508
HP:0002823	Abnormal femur morphology	6197	RPS6KA3	OMIM:303600
HP:0002823	Abnormal femur morphology	64135	IFIH1	OMIM:182250
HP:0002823	Abnormal femur morphology	10940	POP1	OMIM:617396
HP:0002823	Abnormal femur morphology	3190	HNRNPK	OMIM:616580
HP:0002823	Abnormal femur morphology	57492	ARID1B	OMIM:135900
HP:0002823	Abnormal femur morphology	4998	ORC1	OMIM:224690
HP:0002823	Abnormal femur morphology	3899	AFF3	OMIM:619297
HP:0002823	Abnormal femur morphology	84068	SLC10A7	OMIM:618363
HP:0002823	Abnormal femur morphology	54543	TOMM7	OMIM:620601
HP:0002823	Abnormal femur morphology	9719	ADAMTSL2	ORPHA:1901
HP:0002823	Abnormal femur morphology	9719	ADAMTSL2	OMIM:231050
HP:0002823	Abnormal femur morphology	9509	ADAMTS2	ORPHA:1901
HP:0002823	Abnormal femur morphology	8726	EED	OMIM:617561
HP:0002823	Abnormal femur morphology	633	BGN	OMIM:300106
HP:0002823	Abnormal femur morphology	372	ARCN1	OMIM:617164
HP:0002823	Abnormal femur morphology	84342	COG8	OMIM:611182
HP:0002823	Abnormal femur morphology	9451	EIF2AK3	OMIM:226980
HP:0002823	Abnormal femur morphology	3425	IDUA	OMIM:607014
HP:0002823	Abnormal femur morphology	4247	MGAT2	OMIM:212066
HP:0002823	Abnormal femur morphology	2074	ERCC6	OMIM:214150
HP:0002823	Abnormal femur morphology	10804	GJB6	ORPHA:477
HP:0002823	Abnormal femur morphology	2706	GJB2	ORPHA:477
HP:0002823	Abnormal femur morphology	11285	B4GALT7	OMIM:130070
HP:0002823	Abnormal femur morphology	1857	DVL3	ORPHA:3107
HP:0002823	Abnormal femur morphology	7474	WNT5A	ORPHA:3107
HP:0002823	Abnormal femur morphology	1855	DVL1	ORPHA:3107
HP:0002823	Abnormal femur morphology	2535	FZD2	ORPHA:3107
HP:0002823	Abnormal femur morphology	2517	FUCA1	OMIM:230000
HP:0002823	Abnormal femur morphology	2588	GALNS	OMIM:253000
HP:0002823	Abnormal femur morphology	81031	SLC2A10	ORPHA:3342
HP:0002823	Abnormal femur morphology	10236	HNRNPR	OMIM:620073
HP:0002823	Abnormal femur morphology	25839	COG4	OMIM:618150
HP:0002823	Abnormal femur morphology	10269	ZMPSTE24	ORPHA:740
HP:0002823	Abnormal femur morphology	6558	SLC12A2	OMIM:619080
HP:0002823	Abnormal femur morphology	51715	RAB23	OMIM:201000
HP:0002823	Abnormal femur morphology	4784	NFIX	OMIM:614753
HP:0002823	Abnormal femur morphology	388015	RTL1	ORPHA:96334
HP:0002823	Abnormal femur morphology	8788	DLK1	ORPHA:96334
HP:0002823	Abnormal femur morphology	55384	MEG3	ORPHA:96334
HP:0002823	Abnormal femur morphology	3187	HNRNPH1	OMIM:620083
HP:0002823	Abnormal femur morphology	11014	KDELR2	OMIM:619131
HP:0002823	Abnormal femur morphology	2961	GTF2E2	OMIM:616943
HP:0002823	Abnormal femur morphology	865	CBFB	OMIM:620099
HP:0002823	Abnormal femur morphology	2737	GLI3	ORPHA:93322
HP:0002823	Abnormal femur morphology	2335	FN1	OMIM:184255
HP:0002823	Abnormal femur morphology	2335	FN1	ORPHA:93315
HP:0002823	Abnormal femur morphology	6399	TRAPPC2	ORPHA:93284
HP:0002823	Abnormal femur morphology	6399	TRAPPC2	OMIM:313400
HP:0002823	Abnormal femur morphology	65992	DDRGK1	OMIM:602557
HP:0002823	Abnormal femur morphology	9131	AIFM1	OMIM:300232
HP:0002823	Abnormal femur morphology	85301	COL27A1	OMIM:615155
HP:0002823	Abnormal femur morphology	579	NKX3-2	OMIM:613330
HP:0002823	Abnormal femur morphology	8838	CCN6	OMIM:208230
HP:0002823	Abnormal femur morphology	8838	CCN6	ORPHA:1159
HP:0002823	Abnormal femur morphology	57282	SLC4A10	OMIM:620746
HP:0002823	Abnormal femur morphology	5885	RAD21	OMIM:614701
HP:0002823	Abnormal femur morphology	4796	TONSL	ORPHA:93357
HP:0002823	Abnormal femur morphology	4796	TONSL	OMIM:271510
HP:0002823	Abnormal femur morphology	5176	SERPINF1	OMIM:613982
HP:0002823	Abnormal femur morphology	10216	PRG4	ORPHA:2848
HP:0002823	Abnormal femur morphology	10216	PRG4	OMIM:208250
HP:0002823	Abnormal femur morphology	60681	FKBP10	OMIM:259450
HP:0002823	Abnormal femur morphology	60681	FKBP10	OMIM:610968
HP:0002823	Abnormal femur morphology	1298	COL9A2	ORPHA:166002
HP:0002823	Abnormal femur morphology	1299	COL9A3	ORPHA:166002
HP:0002823	Abnormal femur morphology	23545	ATP6V0A2	ORPHA:2834
HP:0002823	Abnormal femur morphology	23545	ATP6V0A2	OMIM:278250
HP:0002823	Abnormal femur morphology	5116	PCNT	ORPHA:2637
HP:0002823	Abnormal femur morphology	5116	PCNT	OMIM:210720
HP:0002823	Abnormal femur morphology	9675	TTI1	OMIM:620445
HP:0002823	Abnormal femur morphology	860	RUNX2	OMIM:119600
HP:0002823	Abnormal femur morphology	860	RUNX2	ORPHA:1452
HP:0002823	Abnormal femur morphology	1954	MEGF8	OMIM:614976
HP:0002823	Abnormal femur morphology	5830	PEX5	OMIM:616716
HP:0002823	Abnormal femur morphology	23594	ORC6	OMIM:613803
HP:0002823	Abnormal femur morphology	126792	B3GALT6	OMIM:615349
HP:0002823	Abnormal femur morphology	126792	B3GALT6	OMIM:271640
HP:0002823	Abnormal femur morphology	5573	PRKAR1A	ORPHA:950
HP:0002823	Abnormal femur morphology	5144	PDE4D	ORPHA:950
HP:0002823	Abnormal femur morphology	23592	LEMD3	ORPHA:166119
HP:0002823	Abnormal femur morphology	1593	CYP27A1	ORPHA:909
HP:0002823	Abnormal femur morphology	4010	LMX1B	ORPHA:2614
HP:0002823	Abnormal femur morphology	727857	BHLHA9	ORPHA:3329
HP:0002823	Abnormal femur morphology	2317	FLNB	ORPHA:1263
HP:0002823	Abnormal femur morphology	2200	FBN1	ORPHA:969
HP:0002823	Abnormal femur morphology	4054	LTBP3	ORPHA:969
HP:0002823	Abnormal femur morphology	672	BRCA1	ORPHA:84
HP:0002823	Abnormal femur morphology	10459	MAD2L2	ORPHA:84
HP:0002823	Abnormal femur morphology	7516	XRCC2	ORPHA:84
HP:0002823	Abnormal femur morphology	29089	UBE2T	ORPHA:84
HP:0002823	Abnormal femur morphology	675	BRCA2	ORPHA:84
HP:0002823	Abnormal femur morphology	55120	FANCL	ORPHA:84
HP:0002823	Abnormal femur morphology	2177	FANCD2	ORPHA:84
HP:0002823	Abnormal femur morphology	2175	FANCA	ORPHA:84
HP:0002823	Abnormal femur morphology	2187	FANCB	ORPHA:84
HP:0002823	Abnormal femur morphology	2176	FANCC	ORPHA:84
HP:0002823	Abnormal femur morphology	2178	FANCE	ORPHA:84
HP:0002823	Abnormal femur morphology	2188	FANCF	ORPHA:84
HP:0002823	Abnormal femur morphology	2189	FANCG	ORPHA:84
HP:0002823	Abnormal femur morphology	5888	RAD51	ORPHA:84
HP:0002823	Abnormal femur morphology	5889	RAD51C	ORPHA:84
HP:0002823	Abnormal femur morphology	55159	RFWD3	ORPHA:84
HP:0002823	Abnormal femur morphology	83990	BRIP1	ORPHA:84
HP:0002823	Abnormal femur morphology	57697	FANCM	ORPHA:84
HP:0002823	Abnormal femur morphology	79728	PALB2	ORPHA:84
HP:0002823	Abnormal femur morphology	84464	SLX4	ORPHA:84
HP:0002823	Abnormal femur morphology	2072	ERCC4	ORPHA:84
HP:0002823	Abnormal femur morphology	55215	FANCI	ORPHA:84
HP:0002823	Abnormal femur morphology	6916	TBXAS1	ORPHA:1802
HP:0002823	Abnormal femur morphology	2261	FGFR3	ORPHA:429
HP:0002823	Abnormal femur morphology	7040	TGFB1	ORPHA:1328
HP:0002823	Abnormal femur morphology	2717	GLA	ORPHA:324
HP:0002823	Abnormal femur morphology	2131	EXT1	ORPHA:321
HP:0002823	Abnormal femur morphology	2132	EXT2	ORPHA:321
HP:0002823	Abnormal femur morphology	2778	GNAS	ORPHA:562
HP:0002823	Abnormal femur morphology	6473	SHOX	ORPHA:240
HP:0002823	Abnormal femur morphology	10082	GPC6	ORPHA:93329
HP:0002823	Abnormal femur morphology	2146	EZH2	OMIM:277590
HP:0002823	Abnormal femur morphology	4322	MMP13	OMIM:602111
HP:0002823	Abnormal femur morphology	4322	MMP13	ORPHA:93356
HP:0002823	Abnormal femur morphology	79659	DYNC2H1	OMIM:613091
HP:0002823	Abnormal femur morphology	1300	COL10A1	OMIM:156500
HP:0002823	Abnormal femur morphology	1300	COL10A1	ORPHA:174
HP:0002823	Abnormal femur morphology	5447	POR	OMIM:201750
HP:0002823	Abnormal femur morphology	5447	POR	ORPHA:95699
HP:0002823	Abnormal femur morphology	5447	POR	OMIM:207410
HP:0002823	Abnormal femur morphology	1184	CLCN5	OMIM:300554
HP:0002823	Abnormal femur morphology	1184	CLCN5	OMIM:300009
HP:0002823	Abnormal femur morphology	142680	SLC34A3	OMIM:241530
HP:0002823	Abnormal femur morphology	1594	CYP27B1	ORPHA:289157
HP:0002823	Abnormal femur morphology	1594	CYP27B1	OMIM:264700
HP:0002823	Abnormal femur morphology	120227	CYP2R1	ORPHA:289157
HP:0002823	Abnormal femur morphology	120227	CYP2R1	OMIM:600081
HP:0002823	Abnormal femur morphology	55503	TRPV6	OMIM:618188
HP:0002823	Abnormal femur morphology	5593	PRKG2	OMIM:619638
HP:0002823	Abnormal femur morphology	100151683	RNU4ATAC	OMIM:210710
HP:0002823	Abnormal femur morphology	6023	RMRP	OMIM:250250
HP:0002823	Abnormal femur morphology	89970	RSPRY1	OMIM:616723
HP:0002823	Abnormal femur morphology	5352	PLOD2	OMIM:609220
HP:0002823	Abnormal femur morphology	4148	MATN3	OMIM:608728
HP:0002823	Abnormal femur morphology	6662	SOX9	ORPHA:140
HP:0002823	Abnormal femur morphology	6662	SOX9	OMIM:114290
HP:0002823	Abnormal femur morphology	91754	NEK9	OMIM:617022
HP:0002823	Abnormal femur morphology	91179	SCARF2	OMIM:600920
HP:0002823	Abnormal femur morphology	2263	FGFR2	OMIM:207410
HP:0002823	Abnormal femur morphology	1277	COL1A1	OMIM:166200
HP:0002823	Abnormal femur morphology	2316	FLNA	OMIM:304120
HP:0002823	Abnormal femur morphology	2316	FLNA	OMIM:311300
HP:0002823	Abnormal femur morphology	3911	LAMA5	OMIM:620076
HP:0002823	Abnormal femur morphology	1301	COL11A1	ORPHA:440354
HP:0002823	Abnormal femur morphology	64175	P3H1	OMIM:610915
HP:0002823	Abnormal femur morphology	54808	DYM	OMIM:223800
HP:0002823	Abnormal femur morphology	5251	PHEX	OMIM:307800
HP:0002823	Abnormal femur morphology	7476	WNT7A	OMIM:228930
HP:0002823	Abnormal femur morphology	7476	WNT7A	OMIM:276820
HP:0002823	Abnormal femur morphology	4125	MAN2B1	OMIM:248500
HP:0002823	Abnormal femur morphology	25885	POLR1A	OMIM:616462
HP:0002823	Abnormal femur morphology	55603	TENT5A	OMIM:617952
HP:0002823	Abnormal femur morphology	284086	NEK8	OMIM:615415
HP:0002823	Abnormal femur morphology	92344	GORAB	OMIM:231070
HP:0002823	Abnormal femur morphology	9939	RBM8A	OMIM:274000
HP:0002823	Abnormal femur morphology	166929	SGMS2	OMIM:126550
HP:0002823	Abnormal femur morphology	3977	LIFR	OMIM:601559
HP:0002823	Abnormal femur morphology	55151	TMEM38B	OMIM:615066
HP:0002823	Abnormal femur morphology	7421	VDR	OMIM:277440
HP:0002823	Abnormal femur morphology	25871	NEPRO	OMIM:618853
HP:0002823	Abnormal femur morphology	8792	TNFRSF11A	OMIM:602080
HP:0002823	Abnormal femur morphology	649	BMP1	OMIM:614856
HP:0002823	Abnormal femur morphology	3930	LBR	OMIM:618019
HP:0002823	Abnormal femur morphology	55112	DYNC2I1	OMIM:615503
HP:0002823	Abnormal femur morphology	5130	PCYT1A	OMIM:608940
HP:0002823	Abnormal femur morphology	9653	HS2ST1	OMIM:619194
HP:0002823	Abnormal femur morphology	8985	PLOD3	OMIM:612394
HP:0002823	Abnormal femur morphology	9949	AMMECR1	OMIM:300990
HP:0002823	Abnormal femur morphology	64841	GNPNAT1	OMIM:619598
HP:0002823	Abnormal femur morphology	10588	MTHFS	OMIM:618367
HP:0002823	Abnormal femur morphology	65250	CPLANE1	OMIM:277170
HP:0002823	Abnormal femur morphology	23483	TGDS	OMIM:616145
HP:0002823	Abnormal femur morphology	83871	RAB34	OMIM:620718
HP:0002823	Abnormal femur morphology	57167	SALL4	OMIM:147750
HP:0002823	Abnormal femur morphology	815	CAMK2A	OMIM:617798
HP:0002823	Abnormal femur morphology	1317	SLC31A1	OMIM:620306
HP:0002823	Abnormal femur morphology	11128	POLR3A	OMIM:264090
HP:0002823	Abnormal femur morphology	11128	POLR3A	ORPHA:3455
HP:0002823	Abnormal femur morphology	6913	TBX15	ORPHA:93333
HP:0002823	Abnormal femur morphology	79087	ALG12	OMIM:607143
HP:0002823	Abnormal femur morphology	22827	PUF60	ORPHA:508488
HP:0002823	Abnormal femur morphology	8540	AGPS	OMIM:600121
HP:0002823	Abnormal femur morphology	8802	SUCLG1	ORPHA:17
HP:0002823	Abnormal femur morphology	202018	TAPT1	OMIM:616897
HP:0002823	Abnormal femur morphology	871	SERPINH1	OMIM:613848
HP:0002823	Abnormal femur morphology	9898	UBAP2L	OMIM:620494
HP:0002823	Abnormal femur morphology	4041	LRP5	ORPHA:2788
HP:0002823	Abnormal femur morphology	64131	XYLT1	ORPHA:1425
HP:0002823	Abnormal femur morphology	124583	CANT1	ORPHA:1425
HP:0002823	Abnormal femur morphology	55790	CSGALNACT1	ORPHA:1425
HP:0002823	Abnormal femur morphology	59341	TRPV4	ORPHA:86820
HP:0002823	Abnormal femur morphology	1280	COL2A1	ORPHA:86820
HP:0002823	Abnormal femur morphology	3549	IHH	ORPHA:63446
HP:0002823	Abnormal femur morphology	90	ACVR1	ORPHA:337
HP:0002823	Abnormal femur morphology	50485	SMARCAL1	ORPHA:1830
HP:0002823	Abnormal femur morphology	84572	GNPTG	OMIM:252605
HP:0002823	Abnormal femur morphology	176	ACAN	OMIM:608361
HP:0002823	Abnormal femur morphology	7227	TRPS1	OMIM:190350
HP:0002823	Abnormal femur morphology	79848	CSPP1	ORPHA:397715
HP:0002823	Abnormal femur morphology	9786	KIAA0586	ORPHA:397715
HP:0002823	Abnormal femur morphology	755	CFAP410	OMIM:602271
HP:0002823	Abnormal femur morphology	6729	SRP54	OMIM:260400
HP:0002823	Abnormal femur morphology	51119	SBDS	OMIM:260400
HP:0002823	Abnormal femur morphology	134218	DNAJC21	OMIM:260400
HP:0002823	Abnormal femur morphology	9842	PLEKHM1	OMIM:611497
HP:0002823	Abnormal femur morphology	9842	PLEKHM1	ORPHA:210110
HP:0002823	Abnormal femur morphology	56172	ANKH	OMIM:123000
HP:0002823	Abnormal femur morphology	10312	TCIRG1	ORPHA:210110
HP:0002823	Abnormal femur morphology	1186	CLCN7	ORPHA:210110
HP:0002823	Abnormal femur morphology	2629	GBA1	OMIM:230800
HP:0002823	Abnormal femur morphology	2629	GBA1	ORPHA:77259
HP:0002823	Abnormal femur morphology	1436	CSF1R	OMIM:618476
HP:0002823	Abnormal femur morphology	5660	PSAP	OMIM:610539
HP:0002823	Abnormal femur morphology	950	SCARB2	ORPHA:77259
HP:0002823	Abnormal femur morphology	10060	ABCC9	OMIM:239850
HP:0002823	Abnormal femur morphology	1278	COL1A2	OMIM:166220
HP:0002823	Abnormal femur morphology	4982	TNFRSF11B	OMIM:239000
HP:0002823	Abnormal femur morphology	1758	DMP1	ORPHA:289176
HP:0002823	Abnormal femur morphology	5167	ENPP1	ORPHA:289176
HP:0002823	Abnormal femur morphology	8200	GDF5	OMIM:201250
HP:0002823	Abnormal femur morphology	55898	UNC45A	OMIM:619377
HP:0002823	Abnormal femur morphology	26277	TINF2	OMIM:613990
HP:0002823	Abnormal femur morphology	9652	SKIC3	OMIM:222470
HP:0002823	Abnormal femur morphology	1387	CREBBP	ORPHA:353277
HP:0002823	Abnormal femur morphology	1387	CREBBP	ORPHA:353281
HP:0002823	Abnormal femur morphology	11277	TREX1	ORPHA:247691
HP:0002823	Abnormal femur morphology	2033	EP300	ORPHA:353284
HP:0002823	Abnormal femur morphology	10847	SRCAP	ORPHA:2044
HP:0002823	Abnormal femur morphology	1297	COL9A1	OMIM:614134
HP:0002823	Abnormal femur morphology	6137	RPL13	OMIM:618728
HP:0002823	Abnormal femur morphology	990	CDC6	OMIM:613805
HP:0002823	Abnormal femur morphology	1836	SLC26A2	ORPHA:56304
HP:0002823	Abnormal femur morphology	1836	SLC26A2	OMIM:256050
HP:0002823	Abnormal femur morphology	1302	COL11A2	ORPHA:1427
HP:0002823	Abnormal femur morphology	2697	GJA1	OMIM:218400
HP:0002823	Abnormal femur morphology	51025	PAM16	OMIM:613320
HP:0002823	Abnormal femur morphology	26040	SETBP1	OMIM:269150
HP:0002823	Abnormal femur morphology	5745	PTH1R	OMIM:600002
HP:0002823	Abnormal femur morphology	91252	SLC39A13	ORPHA:157965
HP:0002823	Abnormal femur morphology	91252	SLC39A13	OMIM:612350
HP:0002823	Abnormal femur morphology	83452	RAB33B	OMIM:615222
HP:0002823	Abnormal femur morphology	79639	TMEM53	OMIM:619727
HP:0002823	Abnormal femur morphology	25782	RAB3GAP2	OMIM:212720
HP:0002823	Abnormal femur morphology	5979	RET	OMIM:162300
HP:0002823	Abnormal femur morphology	2972	BRF1	OMIM:616202
HP:0002823	Abnormal femur morphology	652	BMP4	ORPHA:828
HP:0002823	Abnormal femur morphology	79631	EFL1	ORPHA:811
HP:0002823	Abnormal femur morphology	9321	TRIP11	OMIM:200600
HP:0002823	Abnormal femur morphology	5921	RASA1	ORPHA:90307
HP:0002823	Abnormal femur morphology	7157	TP53	ORPHA:668
HP:0002823	Abnormal femur morphology	5925	RB1	ORPHA:668
HP:0002823	Abnormal femur morphology	11200	CHEK2	ORPHA:668
HP:0002823	Abnormal femur morphology	1311	COMP	ORPHA:750
HP:0002823	Abnormal femur morphology	3339	HSPG2	OMIM:255800
HP:0002823	Abnormal femur morphology	60	ACTB	ORPHA:79107
HP:0002823	Abnormal femur morphology	60	ACTB	OMIM:607371
HP:0002823	Abnormal femur morphology	10491	CRTAP	OMIM:610682
HP:0002823	Abnormal femur morphology	5297	PI4KA	OMIM:616531
HP:0002823	Abnormal femur morphology	9496	TBX4	OMIM:147891
HP:0002823	Abnormal femur morphology	3459	IFNGR1	OMIM:209950
HP:0002823	Abnormal femur morphology	26146	TRAF3IP1	OMIM:616629
HP:0002823	Abnormal femur morphology	23187	PHLDB1	OMIM:620639
HP:0002823	Abnormal femur morphology	3835	KIF22	OMIM:603546
HP:0002823	Abnormal femur morphology	5626	PROP1	ORPHA:226307
HP:0002823	Abnormal femur morphology	89884	LHX4	ORPHA:226307
HP:0002823	Abnormal femur morphology	8022	LHX3	ORPHA:226307
HP:0002823	Abnormal femur morphology	5449	POU1F1	ORPHA:226307
HP:0002823	Abnormal femur morphology	8820	HESX1	ORPHA:226307
HP:0002823	Abnormal femur morphology	405753	DUOXA2	ORPHA:95716
HP:0002823	Abnormal femur morphology	6528	SLC5A5	ORPHA:95716
HP:0002823	Abnormal femur morphology	7038	TG	ORPHA:95716
HP:0002823	Abnormal femur morphology	7173	TPO	ORPHA:95716
HP:0002823	Abnormal femur morphology	389434	IYD	ORPHA:95716
HP:0002823	Abnormal femur morphology	50506	DUOX2	ORPHA:95716
HP:0002823	Abnormal femur morphology	7253	TSHR	ORPHA:90673
HP:0002823	Abnormal femur morphology	7252	TSHB	ORPHA:90674
HP:0002823	Abnormal femur morphology	55325	UFSP2	ORPHA:2114
HP:0002823	Abnormal femur morphology	415	ARSL	ORPHA:79345
HP:0002823	Abnormal femur morphology	55636	CHD7	OMIM:214800
HP:0002823	Abnormal femur morphology	55636	CHD7	ORPHA:138
HP:0002823	Abnormal femur morphology	9723	SEMA3E	ORPHA:138
HP:0002823	Abnormal femur morphology	60561	RINT1	OMIM:618641
HP:0002823	Abnormal femur morphology	3313	HSPA9	OMIM:616854
HP:0002823	Abnormal femur morphology	9690	UBE3C	OMIM:620270
HP:0002823	Abnormal femur morphology	6812	STXBP1	ORPHA:495818
HP:0002823	Abnormal femur morphology	57003	CCDC47	OMIM:618268
HP:0002823	Abnormal femur morphology	51506	UFC1	OMIM:618076
HP:0002823	Abnormal femur morphology	7043	TGFB3	OMIM:615582
HP:0002823	Abnormal femur morphology	26128	KIFBP	OMIM:609460
HP:0002823	Abnormal femur morphology	2550	GABBR1	OMIM:620502
HP:0002823	Abnormal femur morphology	8567	MADD	OMIM:619005
HP:0002823	Abnormal femur morphology	9158	FIBP	ORPHA:500095
HP:0002823	Abnormal femur morphology	64132	XYLT2	OMIM:605822
HP:0002823	Abnormal femur morphology	23299	BICD2	OMIM:618291
HP:0002823	Abnormal femur morphology	221496	LEMD2	OMIM:619322
HP:0002823	Abnormal femur morphology	26175	LYSET	OMIM:619345
HP:0002823	Abnormal femur morphology	91147	TMEM67	OMIM:602152
HP:0002823	Abnormal femur morphology	8720	MBTPS1	OMIM:618392
HP:0002823	Abnormal femur morphology	10651	MTX2	OMIM:619127
HP:0002823	Abnormal femur morphology	23233	EXOC6B	OMIM:618395
HP:0002823	Abnormal femur morphology	4318	MMP9	OMIM:613073
HP:0002823	Abnormal femur morphology	5286	PIK3C2A	OMIM:618440
HP:0002823	Abnormal femur morphology	9469	CHST3	OMIM:143095
HP:0002823	Abnormal femur morphology	1108	CHD4	OMIM:617159
HP:0002823	Abnormal femur morphology	54187	NANS	OMIM:610442
HP:0002823	Abnormal femur morphology	658	BMPR1B	OMIM:609441
HP:0002823	Abnormal femur morphology	9742	IFT140	OMIM:266920
HP:0002823	Abnormal femur morphology	80169	CTC1	OMIM:612199
HP:0002823	Abnormal femur morphology	25886	POC1A	OMIM:614813
HP:0002823	Abnormal femur morphology	2184	FAH	OMIM:276700
HP:0002825	Caudal appendage	5648	MASP1	OMIM:257920
HP:0002825	Caudal appendage	5648	MASP1	ORPHA:293843
HP:0002825	Caudal appendage	78989	COLEC11	OMIM:265050
HP:0002825	Caudal appendage	78989	COLEC11	ORPHA:293843
HP:0002825	Caudal appendage	59341	TRPV4	OMIM:156530
HP:0002825	Caudal appendage	10584	COLEC10	ORPHA:293843
HP:0002825	Caudal appendage	79633	FAT4	ORPHA:314679
HP:0002825	Caudal appendage	8642	DCHS1	ORPHA:314679
HP:0002826	Halberd-shaped pelvis	59341	TRPV4	ORPHA:2635
HP:0002826	Halberd-shaped pelvis	59341	TRPV4	OMIM:156530
HP:0002826	Halberd-shaped pelvis	59341	TRPV4	OMIM:184252
HP:0002828	Multiple joint contractures	55605	KIF21A	ORPHA:994
HP:0002828	Multiple joint contractures	4927	NUP88	ORPHA:994
HP:0002828	Multiple joint contractures	7846	TUBA1A	ORPHA:994
HP:0002828	Multiple joint contractures	4654	MYOD1	ORPHA:994
HP:0002828	Multiple joint contractures	54551	MAGEL2	ORPHA:994
HP:0002828	Multiple joint contractures	4593	MUSK	ORPHA:994
HP:0002828	Multiple joint contractures	5913	RAPSN	ORPHA:994
HP:0002828	Multiple joint contractures	6572	SLC18A3	ORPHA:994
HP:0002828	Multiple joint contractures	285489	DOK7	ORPHA:994
HP:0002828	Multiple joint contractures	57190	SELENON	ORPHA:324604
HP:0002828	Multiple joint contractures	4625	MYH7	ORPHA:324604
HP:0002828	Multiple joint contractures	7273	TTN	ORPHA:324604
HP:0002828	Multiple joint contractures	6261	RYR1	ORPHA:597
HP:0002828	Multiple joint contractures	6261	RYR1	ORPHA:424107
HP:0002828	Multiple joint contractures	55131	RBM28	ORPHA:157954
HP:0002828	Multiple joint contractures	23769	FLRT1	ORPHA:320406
HP:0002828	Multiple joint contractures	64837	KLC2	ORPHA:320406
HP:0002828	Multiple joint contractures	27238	GPKOW	ORPHA:2570
HP:0002828	Multiple joint contractures	5393	EXOSC9	OMIM:618065
HP:0002828	Multiple joint contractures	94005	PIGS	OMIM:618143
HP:0002828	Multiple joint contractures	55823	VPS11	ORPHA:466934
HP:0002828	Multiple joint contractures	25914	RTTN	ORPHA:468631
HP:0002828	Multiple joint contractures	1303	COL12A1	ORPHA:536516
HP:0002828	Multiple joint contractures	1303	COL12A1	ORPHA:610
HP:0002828	Multiple joint contractures	2316	FLNA	OMIM:300244
HP:0002828	Multiple joint contractures	7051	TGM1	ORPHA:100976
HP:0002828	Multiple joint contractures	1763	DNA2	ORPHA:352470
HP:0002828	Multiple joint contractures	23396	PIP5K1C	OMIM:611369
HP:0002828	Multiple joint contractures	9968	MED12	OMIM:305450
HP:0002828	Multiple joint contractures	4604	MYBPC1	OMIM:614915
HP:0002828	Multiple joint contractures	9499	MYOT	ORPHA:98911
HP:0002828	Multiple joint contractures	54820	NDE1	OMIM:605013
HP:0002828	Multiple joint contractures	1291	COL6A1	ORPHA:610
HP:0002828	Multiple joint contractures	1292	COL6A2	ORPHA:610
HP:0002828	Multiple joint contractures	1293	COL6A3	ORPHA:610
HP:0002828	Multiple joint contractures	3417	IDH1	ORPHA:99646
HP:0002828	Multiple joint contractures	29925	GMPPB	ORPHA:370968
HP:0002828	Multiple joint contractures	79147	FKRP	ORPHA:370968
HP:0002828	Multiple joint contractures	29954	POMT2	ORPHA:370968
HP:0002828	Multiple joint contractures	9215	LARGE1	ORPHA:370968
HP:0002828	Multiple joint contractures	10585	POMT1	ORPHA:370968
HP:0002828	Multiple joint contractures	5373	PMM2	ORPHA:79318
HP:0002828	Multiple joint contractures	1146	CHRNG	OMIM:265000
HP:0002828	Multiple joint contractures	5981	RFC1	ORPHA:504476
HP:0002828	Multiple joint contractures	126792	B3GALT6	ORPHA:536467
HP:0002828	Multiple joint contractures	339855	KY	OMIM:617114
HP:0002828	Multiple joint contractures	199857	ALG14	OMIM:616227
HP:0002828	Multiple joint contractures	4000	LMNA	ORPHA:1662
HP:0002828	Multiple joint contractures	10269	ZMPSTE24	ORPHA:1662
HP:0002828	Multiple joint contractures	404672	GTF2H5	ORPHA:33364
HP:0002828	Multiple joint contractures	833	CARS1	ORPHA:33364
HP:0002828	Multiple joint contractures	2068	ERCC2	ORPHA:33364
HP:0002828	Multiple joint contractures	7737	RNF113A	ORPHA:33364
HP:0002828	Multiple joint contractures	136647	MPLKIP	ORPHA:33364
HP:0002828	Multiple joint contractures	6897	TARS1	ORPHA:33364
HP:0002828	Multiple joint contractures	16	AARS1	ORPHA:33364
HP:0002828	Multiple joint contractures	2071	ERCC3	ORPHA:33364
HP:0002828	Multiple joint contractures	2961	GTF2E2	ORPHA:33364
HP:0002828	Multiple joint contractures	6509	SLC1A4	ORPHA:447997
HP:0002828	Multiple joint contractures	23299	BICD2	OMIM:618291
HP:0002828	Multiple joint contractures	7317	UBA1	OMIM:301830
HP:0002828	Multiple joint contractures	10535	RNASEH2A	ORPHA:51
HP:0002828	Multiple joint contractures	84153	RNASEH2C	ORPHA:51
HP:0002828	Multiple joint contractures	25939	SAMHD1	ORPHA:51
HP:0002828	Multiple joint contractures	79621	RNASEH2B	ORPHA:51
HP:0002828	Multiple joint contractures	103	ADAR	ORPHA:51
HP:0002828	Multiple joint contractures	11277	TREX1	ORPHA:51
HP:0002828	Multiple joint contractures	100147744	RNU7-1	ORPHA:51
HP:0002828	Multiple joint contractures	134353	LSM11	ORPHA:51
HP:0002828	Multiple joint contractures	64135	IFIH1	ORPHA:51
HP:0002828	Multiple joint contractures	1861	TOR1A	OMIM:128100
HP:0002828	Multiple joint contractures	9325	TRIP4	ORPHA:486815
HP:0002828	Multiple joint contractures	23516	SLC39A14	ORPHA:521406
HP:0002829	Arthralgia	50964	SOST	OMIM:269500
HP:0002829	Arthralgia	26191	PTPN22	ORPHA:397
HP:0002829	Arthralgia	26191	PTPN22	ORPHA:85408
HP:0002829	Arthralgia	26191	PTPN22	ORPHA:900
HP:0002829	Arthralgia	26191	PTPN22	OMIM:180300
HP:0002829	Arthralgia	3106	HLA-B	ORPHA:397
HP:0002829	Arthralgia	3106	HLA-B	ORPHA:117
HP:0002829	Arthralgia	3106	HLA-B	ORPHA:29207
HP:0002829	Arthralgia	3106	HLA-B	ORPHA:3287
HP:0002829	Arthralgia	3123	HLA-DRB1	ORPHA:397
HP:0002829	Arthralgia	3123	HLA-DRB1	ORPHA:85414
HP:0002829	Arthralgia	3123	HLA-DRB1	ORPHA:220393
HP:0002829	Arthralgia	8974	P4HA2	ORPHA:397
HP:0002829	Arthralgia	171023	ASXL1	ORPHA:98850
HP:0002829	Arthralgia	171023	ASXL1	ORPHA:98849
HP:0002829	Arthralgia	54790	TET2	ORPHA:98850
HP:0002829	Arthralgia	54790	TET2	ORPHA:98849
HP:0002829	Arthralgia	867	CBL	ORPHA:98850
HP:0002829	Arthralgia	861	RUNX1	ORPHA:98850
HP:0002829	Arthralgia	6427	SRSF2	ORPHA:98850
HP:0002829	Arthralgia	6427	SRSF2	ORPHA:98849
HP:0002829	Arthralgia	6399	TRAPPC2	ORPHA:93284
HP:0002829	Arthralgia	6399	TRAPPC2	OMIM:313400
HP:0002829	Arthralgia	90268	OTULIN	OMIM:617099
HP:0002829	Arthralgia	144811	LACC1	ORPHA:85414
HP:0002829	Arthralgia	4282	MIF	ORPHA:85414
HP:0002829	Arthralgia	3569	IL6	ORPHA:85414
HP:0002829	Arthralgia	114548	NLRP3	OMIM:617772
HP:0002829	Arthralgia	114548	NLRP3	ORPHA:47045
HP:0002829	Arthralgia	114548	NLRP3	OMIM:191900
HP:0002829	Arthralgia	114548	NLRP3	ORPHA:575
HP:0002829	Arthralgia	114548	NLRP3	ORPHA:1451
HP:0002829	Arthralgia	114548	NLRP3	OMIM:120100
HP:0002829	Arthralgia	7148	TNXB	ORPHA:230839
HP:0002829	Arthralgia	7148	TNXB	OMIM:606408
HP:0002829	Arthralgia	4598	MVK	OMIM:260920
HP:0002829	Arthralgia	4598	MVK	OMIM:610377
HP:0002829	Arthralgia	4598	MVK	ORPHA:343
HP:0002829	Arthralgia	652	BMP4	ORPHA:828
HP:0002829	Arthralgia	3815	KIT	ORPHA:98849
HP:0002829	Arthralgia	3248	HPGD	ORPHA:1525
HP:0002829	Arthralgia	3248	HPGD	ORPHA:217059
HP:0002829	Arthralgia	3248	HPGD	ORPHA:2796
HP:0002829	Arthralgia	3248	HPGD	OMIM:259100
HP:0002829	Arthralgia	54209	TREM2	OMIM:618193
HP:0002829	Arthralgia	54209	TREM2	ORPHA:2770
HP:0002829	Arthralgia	6775	STAT4	ORPHA:85408
HP:0002829	Arthralgia	6775	STAT4	ORPHA:117
HP:0002829	Arthralgia	6775	STAT4	ORPHA:93552
HP:0002829	Arthralgia	3560	IL2RB	ORPHA:85408
HP:0002829	Arthralgia	79722	ANKRD55	ORPHA:85408
HP:0002829	Arthralgia	919	CD247	ORPHA:85408
HP:0002829	Arthralgia	3559	IL2RA	ORPHA:85408
HP:0002829	Arthralgia	5771	PTPN2	ORPHA:85408
HP:0002829	Arthralgia	4210	MEFV	OMIM:249100
HP:0002829	Arthralgia	4210	MEFV	ORPHA:3243
HP:0002829	Arthralgia	4210	MEFV	ORPHA:342
HP:0002829	Arthralgia	4210	MEFV	ORPHA:117
HP:0002829	Arthralgia	4210	MEFV	ORPHA:329967
HP:0002829	Arthralgia	4210	MEFV	OMIM:608068
HP:0002829	Arthralgia	4210	MEFV	OMIM:134610
HP:0002829	Arthralgia	30061	SLC40A1	OMIM:606069
HP:0002829	Arthralgia	1300	COL10A1	ORPHA:174
HP:0002829	Arthralgia	84572	GNPTG	OMIM:252605
HP:0002829	Arthralgia	1280	COL2A1	OMIM:616583
HP:0002829	Arthralgia	1280	COL2A1	ORPHA:2380
HP:0002829	Arthralgia	1280	COL2A1	ORPHA:90653
HP:0002829	Arthralgia	1280	COL2A1	OMIM:108300
HP:0002829	Arthralgia	1280	COL2A1	OMIM:604864
HP:0002829	Arthralgia	1280	COL2A1	OMIM:609162
HP:0002829	Arthralgia	1280	COL2A1	ORPHA:166100
HP:0002829	Arthralgia	1280	COL2A1	OMIM:183900
HP:0002829	Arthralgia	9469	CHST3	OMIM:143095
HP:0002829	Arthralgia	9469	CHST3	ORPHA:263463
HP:0002829	Arthralgia	3717	JAK2	ORPHA:729
HP:0002829	Arthralgia	9927	MFN2	ORPHA:2398
HP:0002829	Arthralgia	340061	STING1	OMIM:615934
HP:0002829	Arthralgia	7132	TNFRSF1A	OMIM:142680
HP:0002829	Arthralgia	7132	TNFRSF1A	ORPHA:329967
HP:0002829	Arthralgia	7132	TNFRSF1A	ORPHA:32960
HP:0002829	Arthralgia	84823	LMNB2	ORPHA:79087
HP:0002829	Arthralgia	3117	HLA-DQA1	OMIM:212750
HP:0002829	Arthralgia	3119	HLA-DQB1	OMIM:212750
HP:0002829	Arthralgia	5777	PTPN6	ORPHA:3243
HP:0002829	Arthralgia	83550	GPR101	ORPHA:963
HP:0002829	Arthralgia	83550	GPR101	OMIM:300942
HP:0002829	Arthralgia	9049	AIP	ORPHA:963
HP:0002829	Arthralgia	1277	COL1A1	ORPHA:287
HP:0002829	Arthralgia	1289	COL5A1	ORPHA:287
HP:0002829	Arthralgia	1290	COL5A2	ORPHA:287
HP:0002829	Arthralgia	1302	COL11A2	OMIM:184840
HP:0002829	Arthralgia	1302	COL11A2	OMIM:215150
HP:0002829	Arthralgia	1302	COL11A2	ORPHA:166100
HP:0002829	Arthralgia	1836	SLC26A2	OMIM:226900
HP:0002829	Arthralgia	1836	SLC26A2	ORPHA:93307
HP:0002829	Arthralgia	64127	NOD2	OMIM:617321
HP:0002829	Arthralgia	64127	NOD2	ORPHA:90340
HP:0002829	Arthralgia	58484	NLRC4	OMIM:616115
HP:0002829	Arthralgia	58484	NLRC4	OMIM:616050
HP:0002829	Arthralgia	2783	GNB2	OMIM:619503
HP:0002829	Arthralgia	4853	NOTCH2	ORPHA:955
HP:0002829	Arthralgia	5251	PHEX	ORPHA:89936
HP:0002829	Arthralgia	5251	PHEX	OMIM:307800
HP:0002829	Arthralgia	3043	HBB	ORPHA:231214
HP:0002829	Arthralgia	3043	HBB	ORPHA:231226
HP:0002829	Arthralgia	3043	HBB	ORPHA:251380
HP:0002829	Arthralgia	51604	PIGT	OMIM:615399
HP:0002829	Arthralgia	540	ATP7B	ORPHA:905
HP:0002829	Arthralgia	6804	STX1A	ORPHA:904
HP:0002829	Arthralgia	7461	CLIP2	ORPHA:904
HP:0002829	Arthralgia	84277	DNAJC30	ORPHA:904
HP:0002829	Arthralgia	8468	FKBP6	ORPHA:904
HP:0002829	Arthralgia	5982	RFC2	ORPHA:904
HP:0002829	Arthralgia	2969	GTF2I	ORPHA:904
HP:0002829	Arthralgia	3984	LIMK1	ORPHA:904
HP:0002829	Arthralgia	9569	GTF2IRD1	ORPHA:904
HP:0002829	Arthralgia	155382	VPS37D	ORPHA:904
HP:0002829	Arthralgia	155368	METTL27	ORPHA:904
HP:0002829	Arthralgia	114049	BUD23	ORPHA:904
HP:0002829	Arthralgia	7458	EIF4H	ORPHA:904
HP:0002829	Arthralgia	84163	GTF2IRD2	ORPHA:904
HP:0002829	Arthralgia	26608	TBL2	ORPHA:904
HP:0002829	Arthralgia	653361	NCF1	ORPHA:904
HP:0002829	Arthralgia	135886	TMEM270	ORPHA:904
HP:0002829	Arthralgia	9031	BAZ1B	ORPHA:904
HP:0002829	Arthralgia	2006	ELN	ORPHA:904
HP:0002829	Arthralgia	1493	CTLA4	ORPHA:900
HP:0002829	Arthralgia	3115	HLA-DPB1	ORPHA:900
HP:0002829	Arthralgia	5657	PRTN3	ORPHA:900
HP:0002829	Arthralgia	3113	HLA-DPA1	ORPHA:900
HP:0002829	Arthralgia	51284	TLR7	OMIM:301080
HP:0002829	Arthralgia	1311	COMP	OMIM:177170
HP:0002829	Arthralgia	1311	COMP	ORPHA:750
HP:0002829	Arthralgia	715	C1R	OMIM:130080
HP:0002829	Arthralgia	130340	AP1S3	ORPHA:247353
HP:0002829	Arthralgia	26525	IL36RN	ORPHA:247353
HP:0002829	Arthralgia	8838	CCN6	ORPHA:1159
HP:0002829	Arthralgia	5336	PLCG2	OMIM:614878
HP:0002829	Arthralgia	3662	IRF4	ORPHA:3452
HP:0002829	Arthralgia	5692	PSMB4	OMIM:617591
HP:0002829	Arthralgia	2157	F8	ORPHA:169805
HP:0002829	Arthralgia	2157	F8	ORPHA:169802
HP:0002829	Arthralgia	654	BMP6	ORPHA:465508
HP:0002829	Arthralgia	654	BMP6	OMIM:620121
HP:0002829	Arthralgia	3077	HFE	ORPHA:465508
HP:0002829	Arthralgia	4087	SMAD2	OMIM:619656
HP:0002829	Arthralgia	7415	VCP	ORPHA:329475
HP:0002829	Arthralgia	100151683	RNU4ATAC	ORPHA:1824
HP:0002829	Arthralgia	3586	IL10	OMIM:180300
HP:0002829	Arthralgia	3586	IL10	ORPHA:117
HP:0002829	Arthralgia	6583	SLC22A4	OMIM:180300
HP:0002829	Arthralgia	4261	CIITA	OMIM:180300
HP:0002829	Arthralgia	51744	CD244	OMIM:180300
HP:0002829	Arthralgia	4795	NFKBIL1	OMIM:180300
HP:0002829	Arthralgia	3514	IGKC	ORPHA:183675
HP:0002829	Arthralgia	3501	IGHG2	ORPHA:183675
HP:0002829	Arthralgia	64241	ABCG8	OMIM:210250
HP:0002829	Arthralgia	64241	ABCG8	ORPHA:391665
HP:0002829	Arthralgia	64241	ABCG8	ORPHA:2882
HP:0002829	Arthralgia	4313	MMP2	OMIM:259600
HP:0002829	Arthralgia	3081	HGD	ORPHA:56
HP:0002829	Arthralgia	3081	HGD	OMIM:203500
HP:0002829	Arthralgia	10801	SEPTIN9	ORPHA:2901
HP:0002829	Arthralgia	7227	TRPS1	OMIM:190350
HP:0002829	Arthralgia	6307	MSMO1	OMIM:616834
HP:0002829	Arthralgia	1188	CLCNKB	ORPHA:358
HP:0002829	Arthralgia	6559	SLC12A3	ORPHA:358
HP:0002829	Arthralgia	6559	SLC12A3	OMIM:263800
HP:0002829	Arthralgia	2068	ERCC2	ORPHA:910
HP:0002829	Arthralgia	7507	XPA	ORPHA:910
HP:0002829	Arthralgia	2071	ERCC3	ORPHA:910
HP:0002829	Arthralgia	7508	XPC	ORPHA:910
HP:0002829	Arthralgia	1643	DDB2	ORPHA:910
HP:0002829	Arthralgia	2072	ERCC4	ORPHA:910
HP:0002829	Arthralgia	2073	ERCC5	ORPHA:910
HP:0002829	Arthralgia	149233	IL23R	ORPHA:117
HP:0002829	Arthralgia	1230	CCR1	ORPHA:117
HP:0002829	Arthralgia	355	FAS	ORPHA:117
HP:0002829	Arthralgia	3592	IL12A	ORPHA:117
HP:0002829	Arthralgia	101928376	IL12A-AS1	ORPHA:117
HP:0002829	Arthralgia	7099	TLR4	ORPHA:117
HP:0002829	Arthralgia	3459	IFNGR1	ORPHA:117
HP:0002829	Arthralgia	720	C4A	ORPHA:117
HP:0002829	Arthralgia	337867	UBAC2	ORPHA:117
HP:0002829	Arthralgia	51752	ERAP1	ORPHA:117
HP:0002829	Arthralgia	8302	KLRC4	ORPHA:117
HP:0002829	Arthralgia	9663	LPIN2	OMIM:609628
HP:0002829	Arthralgia	9663	LPIN2	ORPHA:77297
HP:0002829	Arthralgia	23592	LEMD3	ORPHA:166119
HP:0002829	Arthralgia	6696	SPP1	ORPHA:93552
HP:0002829	Arthralgia	6303	SAT1	ORPHA:93552
HP:0002829	Arthralgia	3654	IRAK1	ORPHA:93552
HP:0002829	Arthralgia	2057	EPOR	ORPHA:90042
HP:0002829	Arthralgia	411	ARSB	OMIM:253200
HP:0002829	Arthralgia	53335	BCL11A	ORPHA:251380
HP:0002829	Arthralgia	10661	KLF1	ORPHA:251380
HP:0002829	Arthralgia	3047	HBG1	ORPHA:251380
HP:0002829	Arthralgia	3048	HBG2	ORPHA:251380
HP:0002829	Arthralgia	7317	UBA1	OMIM:301054
HP:0002829	Arthralgia	4000	LMNA	ORPHA:90153
HP:0002829	Arthralgia	3949	LDLR	ORPHA:391665
HP:0002829	Arthralgia	255738	PCSK9	ORPHA:391665
HP:0002829	Arthralgia	26119	LDLRAP1	ORPHA:391665
HP:0002829	Arthralgia	338	APOB	ORPHA:391665
HP:0002829	Arthralgia	64240	ABCG5	ORPHA:391665
HP:0002829	Arthralgia	64240	ABCG5	ORPHA:2882
HP:0002829	Arthralgia	427	ASAH1	ORPHA:333
HP:0002829	Arthralgia	427	ASAH1	OMIM:228000
HP:0002829	Arthralgia	4621	MYH3	OMIM:193700
HP:0002829	Arthralgia	3930	LBR	OMIM:613471
HP:0002829	Arthralgia	29940	DSE	OMIM:615539
HP:0002829	Arthralgia	11145	PLAAT3	OMIM:620683
HP:0002829	Arthralgia	713	C1QB	OMIM:620321
HP:0002829	Arthralgia	2717	GLA	ORPHA:324
HP:0002829	Arthralgia	6578	SLCO2A1	ORPHA:2796
HP:0002829	Arthralgia	5745	PTH1R	ORPHA:79106
HP:0002829	Arthralgia	1301	COL11A1	ORPHA:560
HP:0002829	Arthralgia	23495	TNFRSF13B	ORPHA:1572
HP:0002829	Arthralgia	4790	NFKB1	ORPHA:1572
HP:0002829	Arthralgia	4791	NFKB2	ORPHA:1572
HP:0002829	Arthralgia	115650	TNFRSF13C	ORPHA:1572
HP:0002829	Arthralgia	1380	CR2	ORPHA:1572
HP:0002829	Arthralgia	8742	TNFSF12	ORPHA:1572
HP:0002829	Arthralgia	930	CD19	ORPHA:1572
HP:0002829	Arthralgia	29851	ICOS	ORPHA:1572
HP:0002829	Arthralgia	931	MS4A1	ORPHA:1572
HP:0002829	Arthralgia	975	CD81	ORPHA:1572
HP:0002829	Arthralgia	975	CD81	OMIM:613496
HP:0002829	Arthralgia	359948	IRF2BP2	ORPHA:1572
HP:0002829	Arthralgia	1499	CTNNB1	ORPHA:873
HP:0002829	Arthralgia	324	APC	ORPHA:873
HP:0002829	Arthralgia	6424	SFRP4	OMIM:265900
HP:0002829	Arthralgia	716	C1S	OMIM:617174
HP:0002829	Arthralgia	5167	ENPP1	ORPHA:51608
HP:0002829	Arthralgia	368	ABCC6	ORPHA:51608
HP:0002829	Arthralgia	55325	UFSP2	OMIM:617974
HP:0002829	Arthralgia	91461	PKDCC	OMIM:618821
HP:0002829	Arthralgia	7305	TYROBP	ORPHA:2770
HP:0002829	Arthralgia	65992	DDRGK1	ORPHA:93352
HP:0002829	Arthralgia	1314	COPA	OMIM:616414
HP:0002829	Arthralgia	51816	ADA2	OMIM:615688
HP:0002829	Arthralgia	3557	IL1RN	OMIM:612852
HP:0002829	Arthralgia	91662	NLRP12	OMIM:611762
HP:0002829	Arthralgia	4148	MATN3	OMIM:607078
HP:0002829	Arthralgia	50515	CHST11	OMIM:618167
HP:0002829	Arthralgia	51371	POMP	OMIM:618048
HP:0002829	Arthralgia	3593	IL12B	ORPHA:3287
HP:0002829	Arthralgia	6945	MLX	ORPHA:3287
HP:0002829	Arthralgia	11277	TREX1	OMIM:610448
HP:0002829	Arthralgia	6609	SMPD1	OMIM:607616
HP:0002829	Arthralgia	1604	CD55	OMIM:226300
HP:0002829	Arthralgia	118429	ANTXR2	OMIM:228600
HP:0002829	Arthralgia	2512	FTL	ORPHA:254704
HP:0002829	Arthralgia	1291	COL6A1	OMIM:158810
HP:0002829	Arthralgia	9051	PSTPIP1	ORPHA:69126
HP:0002829	Arthralgia	1297	COL9A1	OMIM:614135
HP:0002829	Arthralgia	1235	CCR6	ORPHA:220393
HP:0002829	Arthralgia	1490	CCN2	ORPHA:220393
HP:0002829	Arthralgia	3663	IRF5	ORPHA:220393
HP:0002829	Arthralgia	857	CAV1	ORPHA:220393
HP:0002829	Arthralgia	9935	MAFB	OMIM:166300
HP:0002829	Arthralgia	5696	PSMB8	OMIM:256040
HP:0002829	Arthralgia	54829	ASPN	OMIM:607850
HP:0002829	Arthralgia	4067	LYN	OMIM:620376
HP:0002829	Arthralgia	4982	TNFRSF11B	ORPHA:1416
HP:0002829	Arthralgia	56172	ANKH	ORPHA:1416
HP:0002829	Arthralgia	374654	KIF7	ORPHA:166024
HP:0008519	Abnormal coccyx morphology	5648	MASP1	OMIM:257920
HP:0008519	Abnormal coccyx morphology	5648	MASP1	ORPHA:293843
HP:0008519	Abnormal coccyx morphology	78989	COLEC11	OMIM:265050
HP:0008519	Abnormal coccyx morphology	78989	COLEC11	ORPHA:293843
HP:0008519	Abnormal coccyx morphology	59341	TRPV4	OMIM:156530
HP:0008519	Abnormal coccyx morphology	10584	COLEC10	ORPHA:293843
HP:0008519	Abnormal coccyx morphology	79633	FAT4	ORPHA:314679
HP:0008519	Abnormal coccyx morphology	8642	DCHS1	ORPHA:314679
HP:0008519	Abnormal coccyx morphology	6913	TBX15	OMIM:260660
HP:0008519	Abnormal coccyx morphology	6872	TAF1	OMIM:300966
HP:0008519	Abnormal coccyx morphology	285590	SH3PXD2B	OMIM:249420
HP:0002831	Long coccyx	59341	TRPV4	OMIM:156530
HP:0002833	Cystic angiomatosis of bone	26580	BSCL2	OMIM:269700
HP:0002833	Cystic angiomatosis of bone	10555	AGPAT2	OMIM:608594
HP:0002834	Flared femoral metaphysis	1311	COMP	OMIM:177170
HP:0002834	Flared femoral metaphysis	59341	TRPV4	OMIM:156530
HP:0002834	Flared femoral metaphysis	2146	EZH2	OMIM:277590
HP:0002834	Flared femoral metaphysis	1302	COL11A2	ORPHA:1427
HP:0002835	Aspiration	23394	ADNP	ORPHA:404448
HP:0002835	Aspiration	25885	POLR1A	OMIM:616462
HP:0002835	Aspiration	8260	NAA10	OMIM:300855
HP:0002835	Aspiration	9782	MATR3	OMIM:606070
HP:0002835	Aspiration	9782	MATR3	ORPHA:600
HP:0002835	Aspiration	1387	CREBBP	ORPHA:353277
HP:0002835	Aspiration	2290	FOXG1	OMIM:613454
HP:0002835	Aspiration	23219	FBXO28	OMIM:619777
HP:0002835	Aspiration	2917	GRM7	OMIM:618922
HP:0002835	Aspiration	773	CACNA1A	ORPHA:2131
HP:0002835	Aspiration	6507	SLC1A3	ORPHA:2131
HP:0002835	Aspiration	477	ATP1A2	ORPHA:2131
HP:0002835	Aspiration	478	ATP1A3	ORPHA:2131
HP:0002835	Aspiration	9289	ADGRG1	ORPHA:98889
HP:0002835	Aspiration	5297	PI4KA	ORPHA:98889
HP:0002835	Aspiration	27286	SRPX2	ORPHA:98889
HP:0002835	Aspiration	29967	LRP12	OMIM:164310
HP:0002835	Aspiration	22845	DOLK	OMIM:610768
HP:0002835	Aspiration	3073	HEXA	OMIM:272800
HP:0002835	Aspiration	724066	ATXN8	ORPHA:98760
HP:0002835	Aspiration	6315	ATXN8OS	ORPHA:98760
HP:0002835	Aspiration	2887	GRB10	ORPHA:96182
HP:0002835	Aspiration	4281	MID1	OMIM:300000
HP:0002835	Aspiration	22872	SEC31A	OMIM:618651
HP:0002835	Aspiration	64801	ARV1	OMIM:617020
HP:0002835	Aspiration	5277	PIGA	OMIM:300868
HP:0002835	Aspiration	667	DST	OMIM:614653
HP:0002835	Aspiration	1641	DCX	ORPHA:2148
HP:0002835	Aspiration	10243	GPHN	OMIM:149400
HP:0002835	Aspiration	2741	GLRA1	OMIM:149400
HP:0002835	Aspiration	2783	GNB2	OMIM:619503
HP:0002835	Aspiration	8449	DHX16	OMIM:618733
HP:0002835	Aspiration	2033	EP300	ORPHA:353284
HP:0002835	Aspiration	3908	LAMA2	ORPHA:258
HP:0002835	Aspiration	2760	GM2A	OMIM:272750
HP:0002836	Bladder exstrophy	9968	MED12	OMIM:301068
HP:0002836	Bladder exstrophy	3845	KRAS	OMIM:600268
HP:0002836	Bladder exstrophy	51733	UPB1	OMIM:613161
HP:0002836	Bladder exstrophy	1009	CDH11	ORPHA:1299
HP:0002836	Bladder exstrophy	5053	PAH	ORPHA:2209
HP:0002836	Bladder exstrophy	8626	TP63	ORPHA:93930
HP:0002836	Bladder exstrophy	3670	ISL1	ORPHA:93930
HP:0000021	Megacystis	4629	MYH11	OMIM:619350
HP:0000021	Megacystis	4629	MYH11	OMIM:619351
HP:0000021	Megacystis	4629	MYH11	ORPHA:2241
HP:0000021	Megacystis	72	ACTG2	OMIM:155310
HP:0000021	Megacystis	72	ACTG2	OMIM:619431
HP:0000021	Megacystis	72	ACTG2	ORPHA:2604
HP:0000021	Megacystis	72	ACTG2	ORPHA:2241
HP:0000021	Megacystis	9860	LRIG2	OMIM:615112
HP:0000021	Megacystis	554	AVPR2	OMIM:304800
HP:0000021	Megacystis	10398	MYL9	OMIM:619365
HP:0000021	Megacystis	359	AQP2	OMIM:125800
HP:0000021	Megacystis	25802	LMOD1	ORPHA:2241
HP:0000021	Megacystis	4638	MYLK	ORPHA:2241
HP:0000021	Megacystis	7080	NKX2-1	ORPHA:209905
HP:0000021	Megacystis	8626	TP63	OMIM:604292
HP:0002839	Urinary bladder sphincter dysfunction	9897	WASHC5	OMIM:603563
HP:0002839	Urinary bladder sphincter dysfunction	4287	ATXN3	OMIM:109150
HP:0002839	Urinary bladder sphincter dysfunction	51741	WWOX	ORPHA:284282
HP:0002839	Urinary bladder sphincter dysfunction	6683	SPAST	ORPHA:100985
HP:0002839	Urinary bladder sphincter dysfunction	6683	SPAST	OMIM:182601
HP:0002839	Urinary bladder sphincter dysfunction	215	ABCD1	ORPHA:139399
HP:0002839	Urinary bladder sphincter dysfunction	215	ABCD1	OMIM:300100
HP:0002839	Urinary bladder sphincter dysfunction	57165	GJC2	ORPHA:320401
HP:0002839	Urinary bladder sphincter dysfunction	23533	PIK3R5	ORPHA:64753
HP:0002839	Urinary bladder sphincter dysfunction	23064	SETX	ORPHA:64753
HP:0002839	Urinary bladder sphincter dysfunction	3329	HSPD1	OMIM:605280
HP:0002839	Urinary bladder sphincter dysfunction	3329	HSPD1	ORPHA:100994
HP:0002839	Urinary bladder sphincter dysfunction	51062	ATL1	OMIM:182600
HP:0002839	Urinary bladder sphincter dysfunction	2332	FMR1	ORPHA:93256
HP:0002839	Urinary bladder sphincter dysfunction	2632	GBE1	ORPHA:206583
HP:0002839	Urinary bladder sphincter dysfunction	23503	ZFYVE26	OMIM:270700
HP:0002839	Urinary bladder sphincter dysfunction	123606	NIPA1	OMIM:600363
HP:0002839	Urinary bladder sphincter dysfunction	4312	MMP1	ORPHA:79408
HP:0002839	Urinary bladder sphincter dysfunction	1294	COL7A1	ORPHA:79408
HP:0002839	Urinary bladder sphincter dysfunction	6687	SPG7	OMIM:607259
HP:0002839	Urinary bladder sphincter dysfunction	51308	REEP2	ORPHA:401849
HP:0002839	Urinary bladder sphincter dysfunction	51308	REEP2	OMIM:615625
HP:0002839	Urinary bladder sphincter dysfunction	2670	GFAP	ORPHA:363722
HP:0002839	Urinary bladder sphincter dysfunction	6311	ATXN2	OMIM:183090
HP:0002839	Urinary bladder sphincter dysfunction	6253	RTN2	OMIM:604805
HP:0002839	Urinary bladder sphincter dysfunction	9907	AP5Z1	ORPHA:306511
HP:0002839	Urinary bladder sphincter dysfunction	547	KIF1A	OMIM:610357
HP:0002839	Urinary bladder sphincter dysfunction	3798	KIF5A	OMIM:604187
HP:0002839	Urinary bladder sphincter dysfunction	2395	FXN	ORPHA:95
HP:0002839	Urinary bladder sphincter dysfunction	6310	ATXN1	OMIM:164400
HP:0002839	Urinary bladder sphincter dysfunction	5376	PMP22	ORPHA:3115
HP:0002839	Urinary bladder sphincter dysfunction	4359	MPZ	ORPHA:3115
HP:0002839	Urinary bladder sphincter dysfunction	80208	SPG11	OMIM:604360
HP:0002839	Urinary bladder sphincter dysfunction	3178	HNRNPA1	ORPHA:52430
HP:0002839	Urinary bladder sphincter dysfunction	7415	VCP	ORPHA:52430
HP:0002839	Urinary bladder sphincter dysfunction	3181	HNRNPA2B1	ORPHA:52430
HP:0002840	Lymphadenitis	4615	MYD88	OMIM:612260
HP:0002840	Lymphadenitis	5993	RFX5	OMIM:620816
HP:0002840	Lymphadenitis	4688	NCF2	OMIM:233710
HP:0002840	Lymphadenitis	4598	MVK	OMIM:260920
HP:0002840	Lymphadenitis	5896	RAG1	ORPHA:331206
HP:0002840	Lymphadenitis	5897	RAG2	ORPHA:331206
HP:0002840	Lymphadenitis	10616	RBCK1	OMIM:615895
HP:0002840	Lymphadenitis	6773	STAT2	OMIM:618886
HP:0002840	Lymphadenitis	5880	RAC2	OMIM:618986
HP:0002840	Lymphadenitis	3659	IRF1	OMIM:620668
HP:0002840	Lymphadenitis	1535	CYBA	OMIM:233690
HP:0002840	Lymphadenitis	3594	IL12RB1	ORPHA:319552
HP:0002840	Lymphadenitis	1536	CYBB	OMIM:306400
HP:0002840	Lymphadenitis	7852	CXCR4	ORPHA:51636
HP:0002840	Lymphadenitis	79415	CYBC1	OMIM:618935
HP:0002840	Lymphadenitis	3394	IRF8	OMIM:614893
HP:0002840	Lymphadenitis	653361	NCF1	OMIM:233700
HP:0002840	Lymphadenitis	7535	ZAP70	ORPHA:911
HP:0002841	Recurrent fungal infections	4688	NCF2	OMIM:233710
HP:0002841	Recurrent fungal infections	6804	STX1A	ORPHA:586
HP:0002841	Recurrent fungal infections	2947	GSTM3	ORPHA:586
HP:0002841	Recurrent fungal infections	7040	TGFB1	ORPHA:586
HP:0002841	Recurrent fungal infections	2729	GCLC	ORPHA:586
HP:0002841	Recurrent fungal infections	1084	CEACAM3	ORPHA:586
HP:0002841	Recurrent fungal infections	6556	SLC11A1	ORPHA:586
HP:0002841	Recurrent fungal infections	51164	DCTN4	ORPHA:586
HP:0002841	Recurrent fungal infections	3783	KCNN4	ORPHA:586
HP:0002841	Recurrent fungal infections	4282	MIF	ORPHA:586
HP:0002841	Recurrent fungal infections	1909	EDNRA	ORPHA:586
HP:0002841	Recurrent fungal infections	6550	SLC9A3	ORPHA:586
HP:0002841	Recurrent fungal infections	3162	HMOX1	ORPHA:586
HP:0002841	Recurrent fungal infections	115019	SLC26A9	ORPHA:586
HP:0002841	Recurrent fungal infections	3077	HFE	ORPHA:586
HP:0002841	Recurrent fungal infections	11254	SLC6A14	ORPHA:586
HP:0002841	Recurrent fungal infections	5265	SERPINA1	ORPHA:586
HP:0002841	Recurrent fungal infections	1080	CFTR	ORPHA:586
HP:0002841	Recurrent fungal infections	22802	CLCA4	ORPHA:586
HP:0002841	Recurrent fungal infections	4680	CEACAM6	ORPHA:586
HP:0002841	Recurrent fungal infections	1536	CYBB	OMIM:306400
HP:0002841	Recurrent fungal infections	653361	NCF1	OMIM:233700
HP:0002841	Recurrent fungal infections	6772	STAT1	ORPHA:391487
HP:0002841	Recurrent fungal infections	1535	CYBA	OMIM:233690
HP:0002841	Recurrent fungal infections	84905	ZNF341	OMIM:618282
HP:0002841	Recurrent fungal infections	3689	ITGB2	OMIM:116920
HP:0002841	Recurrent fungal infections	3572	IL6ST	OMIM:619752
HP:0002841	Recurrent fungal infections	9020	MAP3K14	OMIM:620449
HP:0002841	Recurrent fungal infections	3551	IKBKB	OMIM:618204
HP:0002841	Recurrent fungal infections	112744	IL17F	OMIM:613956
HP:0002841	Recurrent fungal infections	3431	SP110	ORPHA:79124
HP:0002841	Recurrent fungal infections	6720	SREBF1	OMIM:158310
HP:0002841	Recurrent fungal infections	8517	IKBKG	ORPHA:98813
HP:0002841	Recurrent fungal infections	4792	NFKBIA	ORPHA:98813
HP:0002841	Recurrent fungal infections	57724	EPG5	OMIM:242840
HP:0002841	Recurrent fungal infections	5994	RFXAP	ORPHA:572
HP:0002841	Recurrent fungal infections	4261	CIITA	ORPHA:572
HP:0002841	Recurrent fungal infections	4261	CIITA	OMIM:209920
HP:0002841	Recurrent fungal infections	5993	RFX5	ORPHA:572
HP:0002841	Recurrent fungal infections	8625	RFXANK	ORPHA:572
HP:0002841	Recurrent fungal infections	326	AIRE	OMIM:240300
HP:0002841	Recurrent fungal infections	50619	DEF6	OMIM:619573
HP:0002841	Recurrent fungal infections	100	ADA	OMIM:102700
HP:0002841	Recurrent fungal infections	5896	RAG1	ORPHA:331206
HP:0002841	Recurrent fungal infections	5896	RAG1	OMIM:603554
HP:0002841	Recurrent fungal infections	5897	RAG2	ORPHA:331206
HP:0002841	Recurrent fungal infections	5897	RAG2	OMIM:603554
HP:0002841	Recurrent fungal infections	5238	PGM3	ORPHA:443811
HP:0002841	Recurrent fungal infections	686	BTD	ORPHA:79241
HP:0002841	Recurrent fungal infections	10092	ARPC5	OMIM:620565
HP:0002841	Recurrent fungal infections	6789	STK4	OMIM:614868
HP:0002841	Recurrent fungal infections	5293	PIK3CD	ORPHA:221139
HP:0002841	Recurrent fungal infections	90417	KNSTRN	ORPHA:221139
HP:0002841	Recurrent fungal infections	64421	DCLRE1C	OMIM:603554
HP:0002841	Recurrent fungal infections	81704	DOCK8	OMIM:243700
HP:0002841	Recurrent fungal infections	3594	IL12RB1	ORPHA:186
HP:0002841	Recurrent fungal infections	23534	TNPO3	ORPHA:186
HP:0002841	Recurrent fungal infections	3592	IL12A	ORPHA:186
HP:0002841	Recurrent fungal infections	6689	SPIB	ORPHA:186
HP:0002841	Recurrent fungal infections	5450	POU2AF1	ORPHA:186
HP:0002841	Recurrent fungal infections	9966	TNFSF15	ORPHA:186
HP:0002841	Recurrent fungal infections	79258	MMEL1	ORPHA:186
HP:0002841	Recurrent fungal infections	3663	IRF5	ORPHA:186
HP:0002841	Recurrent fungal infections	2624	GATA2	OMIM:614172
HP:0002841	Recurrent fungal infections	6774	STAT3	OMIM:147060
HP:0002841	Recurrent fungal infections	3561	IL2RG	OMIM:300400
HP:0002841	Recurrent fungal infections	10320	IKZF1	OMIM:616873
HP:0002841	Recurrent fungal infections	7297	TYK2	OMIM:611521
HP:0002841	Recurrent fungal infections	3559	IL2RA	OMIM:606367
HP:0002841	Recurrent fungal infections	7535	ZAP70	OMIM:269840
HP:0002841	Recurrent fungal infections	10804	GJB6	ORPHA:477
HP:0002841	Recurrent fungal infections	2706	GJB2	ORPHA:477
HP:0002841	Recurrent fungal infections	3575	IL7R	ORPHA:169154
HP:0002841	Recurrent fungal infections	915	CD3D	ORPHA:169160
HP:0002841	Recurrent fungal infections	916	CD3E	ORPHA:169160
HP:0002841	Recurrent fungal infections	919	CD247	ORPHA:169160
HP:0002841	Recurrent fungal infections	919	CD247	OMIM:610163
HP:0002841	Recurrent fungal infections	55630	SLC39A4	OMIM:201100
HP:0002841	Recurrent fungal infections	1493	CTLA4	ORPHA:436159
HP:0002841	Recurrent fungal infections	9841	ZBTB24	OMIM:614069
HP:0002841	Recurrent fungal infections	8456	FOXN1	ORPHA:83471
HP:0002841	Recurrent fungal infections	7037	TFRC	OMIM:616740
HP:0002841	Recurrent fungal infections	4598	MVK	OMIM:260920
HP:0002841	Recurrent fungal infections	3932	LCK	OMIM:615758
HP:0002841	Recurrent fungal infections	959	CD40LG	OMIM:308230
HP:0002841	Recurrent fungal infections	8546	AP3B1	OMIM:608233
HP:0002841	Recurrent fungal infections	51311	TLR8	OMIM:301078
HP:0002841	Recurrent fungal infections	9948	WDR1	OMIM:150550
HP:0002841	Recurrent fungal infections	5699	PSMB10	OMIM:620807
HP:0002841	Recurrent fungal infections	28755	TRAC	OMIM:615387
HP:0002841	Recurrent fungal infections	11151	CORO1A	OMIM:615401
HP:0002841	Recurrent fungal infections	1794	DOCK2	OMIM:616433
HP:0002841	Recurrent fungal infections	917	CD3G	OMIM:615607
HP:0002841	Recurrent fungal infections	3718	JAK3	ORPHA:35078
HP:0002841	Recurrent fungal infections	6097	RORC	OMIM:616622
HP:0002841	Recurrent fungal infections	84196	USP48	ORPHA:96253
HP:0002841	Recurrent fungal infections	7157	TP53	ORPHA:96253
HP:0002841	Recurrent fungal infections	9101	USP8	ORPHA:96253
HP:0002841	Recurrent fungal infections	64072	CDH23	ORPHA:96253
HP:0002841	Recurrent fungal infections	2908	NR3C1	ORPHA:96253
HP:0002841	Recurrent fungal infections	673	BRAF	ORPHA:96253
HP:0002841	Recurrent fungal infections	546	ATRX	ORPHA:96253
HP:0002841	Recurrent fungal infections	23765	IL17RA	OMIM:613953
HP:0002841	Recurrent fungal infections	64170	CARD9	OMIM:212050
HP:0002841	Recurrent fungal infections	146206	CARMIL2	OMIM:618131
HP:0002841	Recurrent fungal infections	121214	SDR9C7	OMIM:617574
HP:0002841	Recurrent fungal infections	3848	KRT1	ORPHA:530838
HP:0002841	Recurrent fungal infections	4791	NFKB2	OMIM:615577
HP:0002841	Recurrent fungal infections	79415	CYBC1	OMIM:618935
HP:0002841	Recurrent fungal infections	84818	IL17RC	OMIM:616445
HP:0002841	Recurrent fungal infections	545	ATR	OMIM:614564
HP:0002841	Recurrent fungal infections	10758	TRAF3IP2	OMIM:615527
HP:0002841	Recurrent fungal infections	3248	HPGD	ORPHA:217059
HP:0002841	Recurrent fungal infections	5336	PLCG2	OMIM:614468
HP:0002841	Recurrent fungal infections	64581	CLEC7A	OMIM:613108
HP:0002842	Recurrent Burkholderia cepacia infections	4688	NCF2	OMIM:233710
HP:0002842	Recurrent Burkholderia cepacia infections	6804	STX1A	ORPHA:586
HP:0002842	Recurrent Burkholderia cepacia infections	2947	GSTM3	ORPHA:586
HP:0002842	Recurrent Burkholderia cepacia infections	7040	TGFB1	ORPHA:586
HP:0002842	Recurrent Burkholderia cepacia infections	2729	GCLC	ORPHA:586
HP:0002842	Recurrent Burkholderia cepacia infections	1084	CEACAM3	ORPHA:586
HP:0002842	Recurrent Burkholderia cepacia infections	6556	SLC11A1	ORPHA:586
HP:0002842	Recurrent Burkholderia cepacia infections	51164	DCTN4	ORPHA:586
HP:0002842	Recurrent Burkholderia cepacia infections	3783	KCNN4	ORPHA:586
HP:0002842	Recurrent Burkholderia cepacia infections	4282	MIF	ORPHA:586
HP:0002842	Recurrent Burkholderia cepacia infections	1909	EDNRA	ORPHA:586
HP:0002842	Recurrent Burkholderia cepacia infections	6550	SLC9A3	ORPHA:586
HP:0002842	Recurrent Burkholderia cepacia infections	3162	HMOX1	ORPHA:586
HP:0002842	Recurrent Burkholderia cepacia infections	115019	SLC26A9	ORPHA:586
HP:0002842	Recurrent Burkholderia cepacia infections	3077	HFE	ORPHA:586
HP:0002842	Recurrent Burkholderia cepacia infections	11254	SLC6A14	ORPHA:586
HP:0002842	Recurrent Burkholderia cepacia infections	5265	SERPINA1	ORPHA:586
HP:0002842	Recurrent Burkholderia cepacia infections	1080	CFTR	ORPHA:586
HP:0002842	Recurrent Burkholderia cepacia infections	22802	CLCA4	ORPHA:586
HP:0002842	Recurrent Burkholderia cepacia infections	4680	CEACAM6	ORPHA:586
HP:0002842	Recurrent Burkholderia cepacia infections	1536	CYBB	OMIM:306400
HP:0002842	Recurrent Burkholderia cepacia infections	653361	NCF1	OMIM:233700
HP:0002842	Recurrent Burkholderia cepacia infections	1535	CYBA	OMIM:233690
HP:0005435	Impaired T cell function	7372	UMPS	ORPHA:30
HP:0005435	Impaired T cell function	7372	UMPS	OMIM:258900
HP:0005435	Impaired T cell function	6899	TBX1	OMIM:188400
HP:0005435	Impaired T cell function	6899	TBX1	OMIM:192430
HP:0005435	Impaired T cell function	6899	TBX1	ORPHA:567
HP:0005435	Impaired T cell function	115650	TNFRSF13C	OMIM:240500
HP:0005435	Impaired T cell function	29851	ICOS	OMIM:240500
HP:0005435	Impaired T cell function	29851	ICOS	OMIM:607594
HP:0005435	Impaired T cell function	930	CD19	OMIM:240500
HP:0005435	Impaired T cell function	23495	TNFRSF13B	OMIM:240500
HP:0005435	Impaired T cell function	1380	CR2	OMIM:240500
HP:0005435	Impaired T cell function	55630	SLC39A4	OMIM:201100
HP:0005435	Impaired T cell function	204	AK2	OMIM:267500
HP:0005435	Impaired T cell function	57511	COG6	OMIM:614576
HP:0005435	Impaired T cell function	50485	SMARCAL1	ORPHA:1830
HP:0005435	Impaired T cell function	4860	PNP	OMIM:613179
HP:0005435	Impaired T cell function	54487	DGCR8	OMIM:192430
HP:0005435	Impaired T cell function	8214	DGCR6	OMIM:192430
HP:0005435	Impaired T cell function	8220	ESS2	OMIM:192430
HP:0005435	Impaired T cell function	9993	DGCR2	OMIM:192430
HP:0005435	Impaired T cell function	1312	COMT	ORPHA:567
HP:0005435	Impaired T cell function	221037	JMJD1C	ORPHA:567
HP:0005435	Impaired T cell function	2812	GP1BB	ORPHA:567
HP:0005435	Impaired T cell function	6239	RREB1	ORPHA:567
HP:0005435	Impaired T cell function	7290	HIRA	ORPHA:567
HP:0005435	Impaired T cell function	9632	SEC24C	ORPHA:567
HP:0005435	Impaired T cell function	7353	UFD1	ORPHA:567
HP:0005435	Impaired T cell function	421	ARVCF	ORPHA:567
HP:0005435	Impaired T cell function	27040	LAT	OMIM:617514
HP:0005435	Impaired T cell function	57591	MRTFA	OMIM:618847
HP:0005435	Impaired T cell function	1503	CTPS1	OMIM:615897
HP:0005435	Impaired T cell function	10125	RASGRP1	OMIM:618534
HP:0005435	Impaired T cell function	916	CD3E	OMIM:615615
HP:0005435	Impaired T cell function	3978	LIG1	OMIM:619774
HP:0005435	Impaired T cell function	7040	TGFB1	OMIM:618213
HP:0005435	Impaired T cell function	7456	WIPF1	OMIM:614493
HP:0002851	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells	843	CASP10	OMIM:603909
HP:0002851	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells	843	CASP10	ORPHA:3261
HP:0002851	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells	355	FAS	ORPHA:3261
HP:0002851	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells	355	FAS	OMIM:601859
HP:0002851	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells	356	FASLG	ORPHA:3261
HP:0002851	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells	356	FASLG	OMIM:601859
HP:0002851	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells	5294	PIK3CG	OMIM:619802
HP:0002846	Abnormal B cell morphology	3070	HELLS	OMIM:616911
HP:0002846	Abnormal B cell morphology	83879	CDCA7	OMIM:616910
HP:0002846	Abnormal B cell morphology	917	CD3G	OMIM:615607
HP:0002846	Abnormal B cell morphology	6909	TBX2	OMIM:618223
HP:0002846	Abnormal B cell morphology	915	CD3D	OMIM:615617
HP:0002846	Abnormal B cell morphology	5557	PRIM1	OMIM:620005
HP:0002846	Abnormal B cell morphology	4791	NFKB2	ORPHA:293978
HP:0002846	Abnormal B cell morphology	5788	PTPRC	OMIM:619924
HP:0002846	Abnormal B cell morphology	9020	MAP3K14	OMIM:620449
HP:0002846	Abnormal B cell morphology	843	CASP10	OMIM:603909
HP:0002846	Abnormal B cell morphology	843	CASP10	ORPHA:3261
HP:0002846	Abnormal B cell morphology	5580	PRKCD	OMIM:615559
HP:0002846	Abnormal B cell morphology	355	FAS	ORPHA:3261
HP:0002846	Abnormal B cell morphology	356	FASLG	ORPHA:3261
HP:0002846	Abnormal B cell morphology	3071	NCKAP1L	OMIM:618982
HP:0002846	Abnormal B cell morphology	8517	IKBKG	ORPHA:98813
HP:0002846	Abnormal B cell morphology	4792	NFKBIA	ORPHA:98813
HP:0002846	Abnormal B cell morphology	4067	LYN	OMIM:620376
HP:0002846	Abnormal B cell morphology	84433	CARD11	OMIM:616452
HP:0002846	Abnormal B cell morphology	7535	ZAP70	OMIM:269840
HP:0002846	Abnormal B cell morphology	64170	CARD9	OMIM:212050
HP:0002846	Abnormal B cell morphology	930	CD19	OMIM:613493
HP:0002846	Abnormal B cell morphology	931	MS4A1	OMIM:613495
HP:0002846	Abnormal B cell morphology	27040	LAT	OMIM:617514
HP:0002846	Abnormal B cell morphology	975	CD81	OMIM:613496
HP:0002846	Abnormal B cell morphology	5896	RAG1	ORPHA:331206
HP:0002846	Abnormal B cell morphology	5897	RAG2	ORPHA:331206
HP:0002846	Abnormal B cell morphology	472	ATM	OMIM:208900
HP:0002846	Abnormal B cell morphology	916	CD3E	OMIM:615615
HP:0002846	Abnormal B cell morphology	3561	IL2RG	OMIM:312863
HP:0002846	Abnormal B cell morphology	51135	IRAK4	OMIM:607676
HP:0002846	Abnormal B cell morphology	868	CBLB	OMIM:620430
HP:0002846	Abnormal B cell morphology	4068	SH2D1A	OMIM:308240
HP:0002846	Abnormal B cell morphology	331	XIAP	OMIM:308240
HP:0002846	Abnormal B cell morphology	100	ADA	ORPHA:277
HP:0002846	Abnormal B cell morphology	100	ADA	OMIM:102700
HP:0002846	Abnormal B cell morphology	6772	STAT1	ORPHA:391487
HP:0002846	Abnormal B cell morphology	695	BTK	OMIM:300755
HP:0002846	Abnormal B cell morphology	55388	MCM10	OMIM:619313
HP:0002846	Abnormal B cell morphology	51095	TRNT1	OMIM:616084
HP:0002846	Abnormal B cell morphology	5993	RFX5	OMIM:620816
HP:0002846	Abnormal B cell morphology	4683	NBN	OMIM:251260
HP:0002846	Abnormal B cell morphology	5295	PIK3R1	OMIM:616005
HP:0002846	Abnormal B cell morphology	5295	PIK3R1	ORPHA:397596
HP:0002846	Abnormal B cell morphology	9841	ZBTB24	OMIM:614069
HP:0002846	Abnormal B cell morphology	5880	RAC2	OMIM:618986
HP:0002846	Abnormal B cell morphology	5880	RAC2	OMIM:618987
HP:0002846	Abnormal B cell morphology	22806	IKZF3	OMIM:619437
HP:0002846	Abnormal B cell morphology	987	LRBA	OMIM:614700
HP:0002846	Abnormal B cell morphology	8737	RIPK1	OMIM:618108
HP:0002846	Abnormal B cell morphology	54440	SASH3	OMIM:301082
HP:0002846	Abnormal B cell morphology	9094	UNC119	OMIM:615518
HP:0002846	Abnormal B cell morphology	5293	PIK3CD	ORPHA:221139
HP:0002846	Abnormal B cell morphology	5293	PIK3CD	OMIM:619281
HP:0002846	Abnormal B cell morphology	5293	PIK3CD	ORPHA:397596
HP:0002846	Abnormal B cell morphology	90417	KNSTRN	ORPHA:221139
HP:0002846	Abnormal B cell morphology	64421	DCLRE1C	OMIM:603554
HP:0002846	Abnormal B cell morphology	64421	DCLRE1C	OMIM:602450
HP:0002846	Abnormal B cell morphology	3507	IGHM	OMIM:601495
HP:0002846	Abnormal B cell morphology	114803	MYSM1	ORPHA:508542
HP:0002846	Abnormal B cell morphology	5728	PTEN	ORPHA:397596
HP:0002846	Abnormal B cell morphology	9948	WDR1	OMIM:150550
HP:0002846	Abnormal B cell morphology	23149	FCHO1	OMIM:619164
HP:0002846	Abnormal B cell morphology	974	CD79B	OMIM:612692
HP:0002846	Abnormal B cell morphology	5424	POLD1	OMIM:620836
HP:0002846	Abnormal B cell morphology	5591	PRKDC	OMIM:615966
HP:0002846	Abnormal B cell morphology	2672	GFI1	OMIM:613107
HP:0002846	Abnormal B cell morphology	3718	JAK3	ORPHA:35078
HP:0002846	Abnormal B cell morphology	79840	NHEJ1	ORPHA:169079
HP:0002846	Abnormal B cell morphology	29851	ICOS	OMIM:607594
HP:0002846	Abnormal B cell morphology	5966	REL	OMIM:619652
HP:0002846	Abnormal B cell morphology	23250	ATP11A	OMIM:619851
HP:0002846	Abnormal B cell morphology	51371	POMP	OMIM:618048
HP:0002846	Abnormal B cell morphology	4615	MYD88	OMIM:612260
HP:0002846	Abnormal B cell morphology	6929	TCF3	OMIM:616941
HP:0002846	Abnormal B cell morphology	6929	TCF3	OMIM:619824
HP:0002846	Abnormal B cell morphology	10625	IVNS1ABP	OMIM:618969
HP:0002846	Abnormal B cell morphology	79087	ALG12	ORPHA:79324
HP:0002846	Abnormal B cell morphology	51311	TLR8	OMIM:301078
HP:0002846	Abnormal B cell morphology	6850	SYK	OMIM:619381
HP:0002846	Abnormal B cell morphology	2624	GATA2	OMIM:614172
HP:0002846	Abnormal B cell morphology	567	B2M	OMIM:241600
HP:0002846	Abnormal B cell morphology	5699	PSMB10	OMIM:620807
HP:0002846	Abnormal B cell morphology	96459	FNIP1	OMIM:619705
HP:0002846	Abnormal B cell morphology	10320	IKZF1	OMIM:616873
HP:0002846	Abnormal B cell morphology	9138	ARHGEF1	OMIM:618459
HP:0002846	Abnormal B cell morphology	64858	DCLRE1B	OMIM:620133
HP:0002846	Abnormal B cell morphology	3559	IL2RA	OMIM:606367
HP:0002846	Abnormal B cell morphology	81704	DOCK8	ORPHA:217390
HP:0002846	Abnormal B cell morphology	3604	TNFRSF9	OMIM:620282
HP:0002846	Abnormal B cell morphology	6688	SPI1	OMIM:619707
HP:0002846	Abnormal B cell morphology	973	CD79A	OMIM:613501
HP:0002846	Abnormal B cell morphology	3543	IGLL1	OMIM:613500
HP:0002846	Abnormal B cell morphology	7922	SLC39A7	OMIM:619693
HP:0002846	Abnormal B cell morphology	1503	CTPS1	OMIM:615897
HP:0002846	Abnormal B cell morphology	2000	ELF4	OMIM:301074
HP:0002846	Abnormal B cell morphology	3551	IKBKB	OMIM:618204
HP:0002846	Abnormal B cell morphology	10043	TOM1	OMIM:619510
HP:0002846	Abnormal B cell morphology	3431	SP110	ORPHA:79124
HP:0002846	Abnormal B cell morphology	60468	BACH2	OMIM:618394
HP:0002846	Abnormal B cell morphology	8085	KMT2D	OMIM:147920
HP:0002846	Abnormal B cell morphology	7403	KDM6A	OMIM:147920
HP:0002846	Abnormal B cell morphology	3659	IRF1	OMIM:620668
HP:0002846	Abnormal B cell morphology	54790	TET2	OMIM:619126
HP:0002846	Abnormal B cell morphology	3937	LCP2	OMIM:619374
HP:0002846	Abnormal B cell morphology	8651	SOCS1	OMIM:619375
HP:0002846	Abnormal B cell morphology	23308	ICOSLG	OMIM:620825
HP:0002846	Abnormal B cell morphology	10525	HYOU1	OMIM:233600
HP:0002846	Abnormal B cell morphology	359948	IRF2BP2	OMIM:617765
HP:0002846	Abnormal B cell morphology	5336	PLCG2	OMIM:614878
HP:0002846	Abnormal B cell morphology	3570	IL6R	OMIM:618944
HP:0002846	Abnormal B cell morphology	59067	IL21	OMIM:615767
HP:0002846	Abnormal B cell morphology	56259	CTNNBL1	OMIM:619846
HP:0002846	Abnormal B cell morphology	29927	SEC61A1	OMIM:620674
HP:0002846	Abnormal B cell morphology	10125	RASGRP1	OMIM:618534
HP:0002847	Impaired memory B cell generation	958	CD40	OMIM:606843
HP:0002847	Impaired memory B cell generation	959	CD40LG	OMIM:308230
HP:0002848	Decreased specific anti-polysaccharide antibody level	57511	COG6	OMIM:614576
HP:0002848	Decreased specific anti-polysaccharide antibody level	355	FAS	ORPHA:3261
HP:0002848	Decreased specific anti-polysaccharide antibody level	356	FASLG	ORPHA:3261
HP:0002848	Decreased specific anti-polysaccharide antibody level	843	CASP10	ORPHA:3261
HP:0002848	Decreased specific anti-polysaccharide antibody level	7454	WAS	OMIM:301000
HP:0002848	Decreased specific anti-polysaccharide antibody level	84061	MAGT1	OMIM:300853
HP:0002848	Decreased specific anti-polysaccharide antibody level	3559	IL2RA	OMIM:606367
HP:0002849	Absence of lymph node germinal center	100	ADA	ORPHA:277
HP:0002849	Absence of lymph node germinal center	5788	PTPRC	OMIM:619924
HP:0002849	Absence of lymph node germinal center	958	CD40	OMIM:606843
HP:0002849	Absence of lymph node germinal center	3431	SP110	OMIM:235550
HP:0002849	Absence of lymph node germinal center	3431	SP110	ORPHA:79124
HP:0002849	Absence of lymph node germinal center	2050	EPHB4	ORPHA:90186
HP:0002849	Absence of lymph node germinal center	959	CD40LG	OMIM:308230
HP:0002850	Decreased circulating total IgM	2137	EXTL3	ORPHA:508533
HP:0002850	Decreased circulating total IgM	2137	EXTL3	OMIM:617425
HP:0002850	Decreased circulating total IgM	30011	SH3KBP1	OMIM:300310
HP:0002850	Decreased circulating total IgM	355	FAS	ORPHA:3261
HP:0002850	Decreased circulating total IgM	356	FASLG	ORPHA:3261
HP:0002850	Decreased circulating total IgM	843	CASP10	ORPHA:3261
HP:0002850	Decreased circulating total IgM	7454	WAS	OMIM:301000
HP:0002850	Decreased circulating total IgM	695	BTK	OMIM:300755
HP:0002850	Decreased circulating total IgM	10043	TOM1	OMIM:619510
HP:0002850	Decreased circulating total IgM	3572	IL6ST	OMIM:619752
HP:0002850	Decreased circulating total IgM	930	CD19	OMIM:613493
HP:0002850	Decreased circulating total IgM	930	CD19	OMIM:240500
HP:0002850	Decreased circulating total IgM	5993	RFX5	OMIM:620818
HP:0002850	Decreased circulating total IgM	5993	RFX5	OMIM:620816
HP:0002850	Decreased circulating total IgM	8517	IKBKG	OMIM:300636
HP:0002850	Decreased circulating total IgM	8517	IKBKG	OMIM:301081
HP:0002850	Decreased circulating total IgM	8517	IKBKG	ORPHA:98813
HP:0002850	Decreased circulating total IgM	1493	CTLA4	ORPHA:436159
HP:0002850	Decreased circulating total IgM	1493	CTLA4	OMIM:616100
HP:0002850	Decreased circulating total IgM	115650	TNFRSF13C	OMIM:613494
HP:0002850	Decreased circulating total IgM	115650	TNFRSF13C	OMIM:240500
HP:0002850	Decreased circulating total IgM	51604	PIGT	ORPHA:369837
HP:0002850	Decreased circulating total IgM	5994	RFXAP	OMIM:620817
HP:0002850	Decreased circulating total IgM	9841	ZBTB24	OMIM:614069
HP:0002850	Decreased circulating total IgM	3932	LCK	OMIM:615758
HP:0002850	Decreased circulating total IgM	5880	RAC2	OMIM:618987
HP:0002850	Decreased circulating total IgM	6948	TCN2	OMIM:275350
HP:0002850	Decreased circulating total IgM	6948	TCN2	ORPHA:859
HP:0002850	Decreased circulating total IgM	3570	IL6R	OMIM:618944
HP:0002850	Decreased circulating total IgM	987	LRBA	OMIM:614700
HP:0002850	Decreased circulating total IgM	54440	SASH3	OMIM:301082
HP:0002850	Decreased circulating total IgM	5293	PIK3CD	ORPHA:221139
HP:0002850	Decreased circulating total IgM	5293	PIK3CD	OMIM:619281
HP:0002850	Decreased circulating total IgM	90417	KNSTRN	ORPHA:221139
HP:0002850	Decreased circulating total IgM	7555	CNBP	OMIM:602668
HP:0002850	Decreased circulating total IgM	3561	IL2RG	OMIM:300400
HP:0002850	Decreased circulating total IgM	60468	BACH2	OMIM:618394
HP:0002850	Decreased circulating total IgM	84433	CARD11	OMIM:616452
HP:0002850	Decreased circulating total IgM	84433	CARD11	OMIM:617638
HP:0002850	Decreased circulating total IgM	974	CD79B	OMIM:612692
HP:0002850	Decreased circulating total IgM	5788	PTPRC	OMIM:619924
HP:0002850	Decreased circulating total IgM	5424	POLD1	OMIM:620836
HP:0002850	Decreased circulating total IgM	641	BLM	OMIM:210900
HP:0002850	Decreased circulating total IgM	641	BLM	ORPHA:125
HP:0002850	Decreased circulating total IgM	841	CASP8	OMIM:607271
HP:0002850	Decreased circulating total IgM	3543	IGLL1	OMIM:613500
HP:0002850	Decreased circulating total IgM	5336	PLCG2	OMIM:614878
HP:0002850	Decreased circulating total IgM	29760	BLNK	OMIM:613502
HP:0002850	Decreased circulating total IgM	5294	PIK3CG	OMIM:619802
HP:0002850	Decreased circulating total IgM	28956	LAMTOR2	OMIM:610798
HP:0002850	Decreased circulating total IgM	7841	MOGS	ORPHA:79330
HP:0002850	Decreased circulating total IgM	868	CBLB	OMIM:620430
HP:0002850	Decreased circulating total IgM	3718	JAK3	ORPHA:35078
HP:0002850	Decreased circulating total IgM	29927	SEC61A1	OMIM:620670
HP:0002850	Decreased circulating total IgM	29851	ICOS	OMIM:607594
HP:0002850	Decreased circulating total IgM	29851	ICOS	OMIM:240500
HP:0002850	Decreased circulating total IgM	7298	TYMS	OMIM:620040
HP:0002850	Decreased circulating total IgM	23387	SIK3	OMIM:618162
HP:0002850	Decreased circulating total IgM	51816	ADA2	OMIM:182410
HP:0002850	Decreased circulating total IgM	139818	DOCK11	OMIM:301109
HP:0002850	Decreased circulating total IgM	23495	TNFRSF13B	OMIM:240500
HP:0002850	Decreased circulating total IgM	1380	CR2	OMIM:240500
HP:0002850	Decreased circulating total IgM	3978	LIG1	OMIM:619774
HP:0002850	Decreased circulating total IgM	537	ATP6AP1	OMIM:300972
HP:0002850	Decreased circulating total IgM	4791	NFKB2	OMIM:615577
HP:0002850	Decreased circulating total IgM	84876	ORAI1	OMIM:612782
HP:0002850	Decreased circulating total IgM	100	ADA	OMIM:102700
HP:0002850	Decreased circulating total IgM	10625	IVNS1ABP	OMIM:618969
HP:0002850	Decreased circulating total IgM	5896	RAG1	ORPHA:331206
HP:0002850	Decreased circulating total IgM	5897	RAG2	ORPHA:331206
HP:0002850	Decreased circulating total IgM	9020	MAP3K14	OMIM:620449
HP:0002850	Decreased circulating total IgM	6786	STIM1	OMIM:612783
HP:0002850	Decreased circulating total IgM	916	CD3E	OMIM:615615
HP:0002850	Decreased circulating total IgM	8792	TNFRSF11A	OMIM:612301
HP:0002850	Decreased circulating total IgM	5426	POLE	OMIM:615139
HP:0002850	Decreased circulating total IgM	5557	PRIM1	OMIM:620005
HP:0002850	Decreased circulating total IgM	3514	IGKC	ORPHA:183675
HP:0002850	Decreased circulating total IgM	3501	IGHG2	ORPHA:183675
HP:0002850	Decreased circulating total IgM	79087	ALG12	OMIM:607143
HP:0002850	Decreased circulating total IgM	6850	SYK	OMIM:619381
HP:0002850	Decreased circulating total IgM	81704	DOCK8	OMIM:243700
HP:0002850	Decreased circulating total IgM	5699	PSMB10	OMIM:620807
HP:0002850	Decreased circulating total IgM	96459	FNIP1	OMIM:619705
HP:0002850	Decreased circulating total IgM	359948	IRF2BP2	OMIM:617765
HP:0002850	Decreased circulating total IgM	6688	SPI1	OMIM:619707
HP:0002850	Decreased circulating total IgM	6773	STAT2	OMIM:616636
HP:0002850	Decreased circulating total IgM	9138	ARHGEF1	OMIM:618459
HP:0002850	Decreased circulating total IgM	6929	TCF3	OMIM:619824
HP:0002850	Decreased circulating total IgM	4792	NFKBIA	ORPHA:98813
HP:0002850	Decreased circulating total IgM	8883	NAE1	OMIM:620210
HP:0002850	Decreased circulating total IgM	165918	RNF168	ORPHA:420741
HP:0002850	Decreased circulating total IgM	4067	LYN	OMIM:620376
HP:0010702	Increased circulating antibody concentration	100	ADA	ORPHA:277
HP:0010702	Increased circulating antibody concentration	100	ADA	OMIM:102700
HP:0010702	Increased circulating antibody concentration	2137	EXTL3	ORPHA:508533
HP:0010702	Increased circulating antibody concentration	64170	CARD9	OMIM:212050
HP:0010702	Increased circulating antibody concentration	7454	WAS	OMIM:301000
HP:0010702	Increased circulating antibody concentration	7454	WAS	OMIM:313900
HP:0010702	Increased circulating antibody concentration	3071	NCKAP1L	OMIM:618982
HP:0010702	Increased circulating antibody concentration	3572	IL6ST	OMIM:619752
HP:0010702	Increased circulating antibody concentration	3572	IL6ST	OMIM:618523
HP:0010702	Increased circulating antibody concentration	29775	CARD10	OMIM:619632
HP:0010702	Increased circulating antibody concentration	10526	IPO8	OMIM:619472
HP:0010702	Increased circulating antibody concentration	1041	CDSN	ORPHA:90368
HP:0010702	Increased circulating antibody concentration	1041	CDSN	OMIM:270300
HP:0010702	Increased circulating antibody concentration	121391	KRT74	ORPHA:90368
HP:0010702	Increased circulating antibody concentration	6777	STAT5B	OMIM:618985
HP:0010702	Increased circulating antibody concentration	5238	PGM3	ORPHA:443811
HP:0010702	Increased circulating antibody concentration	5238	PGM3	OMIM:615816
HP:0010702	Increased circulating antibody concentration	3570	IL6R	OMIM:618944
HP:0010702	Increased circulating antibody concentration	50943	FOXP3	OMIM:304790
HP:0010702	Increased circulating antibody concentration	50943	FOXP3	ORPHA:37042
HP:0010702	Increased circulating antibody concentration	3857	KRT9	OMIM:144200
HP:0010702	Increased circulating antibody concentration	6774	STAT3	OMIM:147060
HP:0010702	Increased circulating antibody concentration	6774	STAT3	ORPHA:2314
HP:0010702	Increased circulating antibody concentration	1294	COL7A1	ORPHA:89843
HP:0010702	Increased circulating antibody concentration	11005	SPINK5	OMIM:256500
HP:0010702	Increased circulating antibody concentration	11005	SPINK5	ORPHA:634
HP:0010702	Increased circulating antibody concentration	7297	TYK2	OMIM:611521
HP:0010702	Increased circulating antibody concentration	59067	IL21	OMIM:615767
HP:0010702	Increased circulating antibody concentration	51135	IRAK4	OMIM:607676
HP:0010702	Increased circulating antibody concentration	84905	ZNF341	OMIM:618282
HP:0010702	Increased circulating antibody concentration	2239	GPC4	ORPHA:373
HP:0010702	Increased circulating antibody concentration	2719	GPC3	ORPHA:373
HP:0010702	Increased circulating antibody concentration	139818	DOCK11	OMIM:301109
HP:0010702	Increased circulating antibody concentration	1956	EGFR	OMIM:616069
HP:0010702	Increased circulating antibody concentration	6573	SLC19A1	OMIM:620603
HP:0010702	Increased circulating antibody concentration	84433	CARD11	OMIM:617638
HP:0010702	Increased circulating antibody concentration	6868	ADAM17	OMIM:614328
HP:0010702	Increased circulating antibody concentration	10092	ARPC5	OMIM:620565
HP:0010702	Increased circulating antibody concentration	64421	DCLRE1C	OMIM:602450
HP:0010702	Increased circulating antibody concentration	81704	DOCK8	OMIM:243700
HP:0010702	Increased circulating antibody concentration	81704	DOCK8	ORPHA:217390
HP:0010702	Increased circulating antibody concentration	56160	NSMCE3	OMIM:617241
HP:0010702	Increased circulating antibody concentration	7040	TGFB1	OMIM:618213
HP:0010702	Increased circulating antibody concentration	1828	DSG1	OMIM:615508
HP:0010702	Increased circulating antibody concentration	6778	STAT6	OMIM:620532
HP:0010702	Increased circulating antibody concentration	8517	IKBKG	ORPHA:98813
HP:0010702	Increased circulating antibody concentration	4792	NFKBIA	ORPHA:98813
HP:0010702	Increased circulating antibody concentration	3559	IL2RA	OMIM:606367
HP:0010702	Increased circulating antibody concentration	3561	IL2RG	ORPHA:276
HP:0010702	Increased circulating antibody concentration	595	CCND1	ORPHA:29073
HP:0010702	Increased circulating antibody concentration	51371	POMP	OMIM:618048
HP:0010702	Increased circulating antibody concentration	340061	STING1	OMIM:615934
HP:0010702	Increased circulating antibody concentration	7174	TPP2	OMIM:619220
HP:0010702	Increased circulating antibody concentration	22861	NLRP1	OMIM:617388
HP:0010702	Increased circulating antibody concentration	3560	IL2RB	OMIM:618495
HP:0010702	Increased circulating antibody concentration	3459	IFNGR1	OMIM:209950
HP:0010702	Increased circulating antibody concentration	10125	RASGRP1	OMIM:618534
HP:0010702	Increased circulating antibody concentration	90268	OTULIN	OMIM:617099
HP:0010702	Increased circulating antibody concentration	4598	MVK	OMIM:260920
HP:0010702	Increased circulating antibody concentration	4598	MVK	ORPHA:343
HP:0010702	Increased circulating antibody concentration	6786	STIM1	OMIM:612783
HP:0010702	Increased circulating antibody concentration	3659	IRF1	OMIM:620668
HP:0010702	Increased circulating antibody concentration	959	CD40LG	OMIM:308230
HP:0010702	Increased circulating antibody concentration	3594	IL12RB1	ORPHA:186
HP:0010702	Increased circulating antibody concentration	23534	TNPO3	ORPHA:186
HP:0010702	Increased circulating antibody concentration	3592	IL12A	ORPHA:186
HP:0010702	Increased circulating antibody concentration	6689	SPIB	ORPHA:186
HP:0010702	Increased circulating antibody concentration	5450	POU2AF1	ORPHA:186
HP:0010702	Increased circulating antibody concentration	9966	TNFSF15	ORPHA:186
HP:0010702	Increased circulating antibody concentration	79258	MMEL1	ORPHA:186
HP:0010702	Increased circulating antibody concentration	3663	IRF5	ORPHA:186
HP:0010702	Increased circulating antibody concentration	404672	GTF2H5	OMIM:616395
HP:0010702	Increased circulating antibody concentration	29927	SEC61A1	OMIM:620674
HP:0010702	Increased circulating antibody concentration	2859	GPR35	ORPHA:171
HP:0010702	Increased circulating antibody concentration	10507	SEMA4D	ORPHA:171
HP:0010702	Increased circulating antibody concentration	4485	MST1	ORPHA:171
HP:0010702	Increased circulating antibody concentration	6925	TCF4	ORPHA:171
HP:0010702	Increased circulating antibody concentration	4615	MYD88	OMIM:153600
HP:0010702	Increased circulating antibody concentration	200942	KLHDC8B	OMIM:236000
HP:0010702	Increased circulating antibody concentration	1789	DNMT3B	OMIM:242860
HP:0010702	Increased circulating antibody concentration	65082	VPS33A	ORPHA:505248
HP:0010702	Increased circulating antibody concentration	65082	VPS33A	OMIM:617303
HP:0010702	Increased circulating antibody concentration	5295	PIK3R1	OMIM:616005
HP:0010702	Increased circulating antibody concentration	5295	PIK3R1	ORPHA:397596
HP:0010702	Increased circulating antibody concentration	5293	PIK3CD	OMIM:615513
HP:0010702	Increased circulating antibody concentration	5293	PIK3CD	ORPHA:397596
HP:0010702	Increased circulating antibody concentration	57379	AICDA	OMIM:605258
HP:0010702	Increased circulating antibody concentration	7374	UNG	OMIM:608106
HP:0010702	Increased circulating antibody concentration	958	CD40	OMIM:606843
HP:0010702	Increased circulating antibody concentration	5728	PTEN	ORPHA:397596
HP:0010702	Increased circulating antibody concentration	84888	SPPL2A	OMIM:619549
HP:0010702	Increased circulating antibody concentration	4068	SH2D1A	OMIM:308240
HP:0010702	Increased circulating antibody concentration	331	XIAP	OMIM:308240
HP:0010702	Increased circulating antibody concentration	9056	SLC7A7	ORPHA:470
HP:0010702	Increased circulating antibody concentration	355	FAS	ORPHA:3261
HP:0010702	Increased circulating antibody concentration	356	FASLG	ORPHA:3261
HP:0010702	Increased circulating antibody concentration	843	CASP10	ORPHA:3261
HP:0010702	Increased circulating antibody concentration	5580	PRKCD	OMIM:615559
HP:0010702	Increased circulating antibody concentration	3575	IL7R	ORPHA:169154
HP:0010702	Increased circulating antibody concentration	213	ALB	ORPHA:86816
HP:0010702	Increased circulating antibody concentration	4893	NRAS	OMIM:614470
HP:0010702	Increased circulating antibody concentration	3845	KRAS	OMIM:614470
HP:0010702	Increased circulating antibody concentration	727897	MUC5B	OMIM:178500
HP:0010702	Increased circulating antibody concentration	6440	SFTPC	OMIM:178500
HP:0010702	Increased circulating antibody concentration	729238	SFTPA2	OMIM:178500
HP:0010702	Increased circulating antibody concentration	7015	TERT	OMIM:178500
HP:0010702	Increased circulating antibody concentration	11311	VPS45	OMIM:615285
HP:0010702	Increased circulating antibody concentration	5184	PEPD	OMIM:170100
HP:0010702	Increased circulating antibody concentration	1277	COL1A1	ORPHA:1310
HP:0010702	Increased circulating antibody concentration	64135	IFIH1	OMIM:615846
HP:0010702	Increased circulating antibody concentration	915	CD3D	ORPHA:169160
HP:0010702	Increased circulating antibody concentration	916	CD3E	ORPHA:169160
HP:0010702	Increased circulating antibody concentration	919	CD247	ORPHA:169160
HP:0010702	Increased circulating antibody concentration	3123	HLA-DRB1	OMIM:181000
HP:0010702	Increased circulating antibody concentration	5692	PSMB4	OMIM:617591
HP:0010702	Increased circulating antibody concentration	4733	DRG1	OMIM:620641
HP:0010702	Increased circulating antibody concentration	2629	GBA1	ORPHA:77261
HP:0010702	Increased circulating antibody concentration	2629	GBA1	ORPHA:77259
HP:0010702	Increased circulating antibody concentration	9051	PSTPIP1	ORPHA:69126
HP:0010702	Increased circulating antibody concentration	23064	SETX	OMIM:606002
HP:0010702	Increased circulating antibody concentration	5696	PSMB8	OMIM:256040
HP:0010702	Increased circulating antibody concentration	1991	ELANE	OMIM:202700
HP:0010702	Increased circulating antibody concentration	950	SCARB2	ORPHA:77259
HP:0010702	Increased circulating antibody concentration	3981	LIG4	OMIM:254500
HP:0002853	Increased proportion of HLA DR+ T cells	843	CASP10	OMIM:603909
HP:0002853	Increased proportion of HLA DR+ T cells	356	FASLG	OMIM:601859
HP:0002853	Increased proportion of HLA DR+ T cells	355	FAS	OMIM:601859
HP:0005479	Decreased circulating IgE concentration	3932	LCK	OMIM:615758
HP:0005479	Decreased circulating IgE concentration	958	CD40	OMIM:606843
HP:0005479	Decreased circulating IgE concentration	6929	TCF3	OMIM:619824
HP:0005479	Decreased circulating IgE concentration	695	BTK	OMIM:300755
HP:0005479	Decreased circulating IgE concentration	10043	TOM1	OMIM:619510
HP:0005479	Decreased circulating IgE concentration	3561	IL2RG	OMIM:300400
HP:0005479	Decreased circulating IgE concentration	959	CD40LG	OMIM:308230
HP:0005479	Decreased circulating IgE concentration	60468	BACH2	OMIM:618394
HP:0011733	Abnormality of adrenal physiology	3988	LIPA	ORPHA:75233
HP:0011733	Abnormality of adrenal physiology	3988	LIPA	OMIM:278000
HP:0011733	Abnormality of adrenal physiology	3284	HSD3B2	OMIM:201810
HP:0011733	Abnormality of adrenal physiology	5447	POR	OMIM:201750
HP:0011733	Abnormality of adrenal physiology	54809	SAMD9	OMIM:617053
HP:0011733	Abnormality of adrenal physiology	326	AIRE	OMIM:240300
HP:0011733	Abnormality of adrenal physiology	3043	HBB	ORPHA:231214
HP:0011733	Abnormality of adrenal physiology	3043	HBB	ORPHA:231222
HP:0011733	Abnormality of adrenal physiology	3043	HBB	ORPHA:231226
HP:0011733	Abnormality of adrenal physiology	55240	STEAP3	ORPHA:300298
HP:0011733	Abnormality of adrenal physiology	8879	SGPL1	OMIM:617575
HP:0011733	Abnormality of adrenal physiology	215	ABCD1	ORPHA:139399
HP:0011733	Abnormality of adrenal physiology	5190	PEX6	OMIM:614863
HP:0011733	Abnormality of adrenal physiology	29926	GMPPA	OMIM:615510
HP:0011733	Abnormality of adrenal physiology	29926	GMPPA	ORPHA:869
HP:0011733	Abnormality of adrenal physiology	89884	LHX4	OMIM:262700
HP:0011733	Abnormality of adrenal physiology	60684	TRAPPC11	ORPHA:869
HP:0011733	Abnormality of adrenal physiology	8086	AAAS	ORPHA:869
HP:0011733	Abnormality of adrenal physiology	8086	AAAS	OMIM:231550
HP:0011733	Abnormality of adrenal physiology	83550	GPR101	ORPHA:963
HP:0011733	Abnormality of adrenal physiology	9049	AIP	ORPHA:963
HP:0011733	Abnormality of adrenal physiology	4173	MCM4	OMIM:609981
HP:0011733	Abnormality of adrenal physiology	100033413	SNORD116-1	OMIM:176270
HP:0011733	Abnormality of adrenal physiology	8924	HERC2	OMIM:176270
HP:0011733	Abnormality of adrenal physiology	23742	NPAP1	OMIM:176270
HP:0011733	Abnormality of adrenal physiology	338433	SNORD115-1	OMIM:176270
HP:0011733	Abnormality of adrenal physiology	54551	MAGEL2	OMIM:176270
HP:0011733	Abnormality of adrenal physiology	7681	MKRN3	OMIM:176270
HP:0011733	Abnormality of adrenal physiology	145624	PWAR1	OMIM:176270
HP:0011733	Abnormality of adrenal physiology	3653	IPW	OMIM:176270
HP:0011733	Abnormality of adrenal physiology	791114	PWRN1	OMIM:176270
HP:0011733	Abnormality of adrenal physiology	56246	MRAP	ORPHA:361
HP:0011733	Abnormality of adrenal physiology	6770	STAR	ORPHA:361
HP:0011733	Abnormality of adrenal physiology	4158	MC2R	ORPHA:361
HP:0011733	Abnormality of adrenal physiology	23530	NNT	ORPHA:361
HP:0011733	Abnormality of adrenal physiology	10587	TXNRD2	ORPHA:361
HP:0011733	Abnormality of adrenal physiology	190	NR0B1	OMIM:300200
HP:0011733	Abnormality of adrenal physiology	190	NR0B1	ORPHA:251510
HP:0011733	Abnormality of adrenal physiology	54880	BCOR	OMIM:300166
HP:0011733	Abnormality of adrenal physiology	5443	POMC	OMIM:609734
HP:0011733	Abnormality of adrenal physiology	64432	MRPS25	OMIM:619025
HP:0011733	Abnormality of adrenal physiology	5626	PROP1	OMIM:262600
HP:0011733	Abnormality of adrenal physiology	9054	NFS1	OMIM:619386
HP:0011733	Abnormality of adrenal physiology	6288	SAA1	ORPHA:85445
HP:0011733	Abnormality of adrenal physiology	5830	PEX5	OMIM:202370
HP:0011733	Abnormality of adrenal physiology	1583	CYP11A1	OMIM:613743
HP:0011733	Abnormality of adrenal physiology	79133	NDUFAF5	OMIM:618238
HP:0011733	Abnormality of adrenal physiology	6662	SOX9	ORPHA:251510
HP:0011733	Abnormality of adrenal physiology	6845	VAMP7	ORPHA:251510
HP:0011733	Abnormality of adrenal physiology	51741	WWOX	ORPHA:251510
HP:0011733	Abnormality of adrenal physiology	4214	MAP3K1	ORPHA:251510
HP:0011733	Abnormality of adrenal physiology	2516	NR5A1	ORPHA:251510
HP:0011733	Abnormality of adrenal physiology	7490	WT1	ORPHA:251510
HP:0011733	Abnormality of adrenal physiology	57647	DHX37	ORPHA:251510
HP:0011733	Abnormality of adrenal physiology	6736	SRY	ORPHA:251510
HP:0011733	Abnormality of adrenal physiology	23414	ZFPM2	ORPHA:251510
HP:0011733	Abnormality of adrenal physiology	2626	GATA4	ORPHA:251510
HP:0011733	Abnormality of adrenal physiology	2710	GK	OMIM:307030
HP:0011733	Abnormality of adrenal physiology	1027	CDKN1B	ORPHA:652
HP:0011733	Abnormality of adrenal physiology	1027	CDKN1B	ORPHA:276152
HP:0011733	Abnormality of adrenal physiology	1026	CDKN1A	ORPHA:652
HP:0011733	Abnormality of adrenal physiology	1030	CDKN2B	ORPHA:652
HP:0011733	Abnormality of adrenal physiology	1031	CDKN2C	ORPHA:652
HP:0011733	Abnormality of adrenal physiology	84196	USP48	ORPHA:96253
HP:0011733	Abnormality of adrenal physiology	7157	TP53	ORPHA:96253
HP:0011733	Abnormality of adrenal physiology	7157	TP53	ORPHA:1501
HP:0011733	Abnormality of adrenal physiology	9101	USP8	ORPHA:96253
HP:0011733	Abnormality of adrenal physiology	2908	NR3C1	ORPHA:96253
HP:0011733	Abnormality of adrenal physiology	2908	NR3C1	ORPHA:786
HP:0011733	Abnormality of adrenal physiology	2908	NR3C1	OMIM:615962
HP:0011733	Abnormality of adrenal physiology	546	ATRX	ORPHA:96253
HP:0011733	Abnormality of adrenal physiology	2778	GNAS	OMIM:174800
HP:0011733	Abnormality of adrenal physiology	2778	GNAS	OMIM:219080
HP:0011733	Abnormality of adrenal physiology	2778	GNAS	ORPHA:562
HP:0011733	Abnormality of adrenal physiology	2778	GNAS	OMIM:617686
HP:0011733	Abnormality of adrenal physiology	2778	GNAS	ORPHA:189427
HP:0011733	Abnormality of adrenal physiology	5566	PRKACA	OMIM:615830
HP:0011733	Abnormality of adrenal physiology	23040	MYT1L	OMIM:616521
HP:0011733	Abnormality of adrenal physiology	79798	ARMC5	OMIM:615954
HP:0011733	Abnormality of adrenal physiology	79798	ARMC5	ORPHA:189427
HP:0011733	Abnormality of adrenal physiology	5573	PRKAR1A	OMIM:610489
HP:0011733	Abnormality of adrenal physiology	5573	PRKAR1A	ORPHA:1501
HP:0011733	Abnormality of adrenal physiology	5573	PRKAR1A	ORPHA:1359
HP:0011733	Abnormality of adrenal physiology	3767	KCNJ11	ORPHA:79644
HP:0011733	Abnormality of adrenal physiology	84133	ZNRF3	ORPHA:1501
HP:0011733	Abnormality of adrenal physiology	1029	CDKN2A	ORPHA:1501
HP:0011733	Abnormality of adrenal physiology	7015	TERT	ORPHA:1501
HP:0011733	Abnormality of adrenal physiology	5621	PRNP	ORPHA:466
HP:0011733	Abnormality of adrenal physiology	8622	PDE8B	OMIM:614190
HP:0011733	Abnormality of adrenal physiology	5979	RET	OMIM:171400
HP:0011733	Abnormality of adrenal physiology	23028	KDM1A	ORPHA:189427
HP:0011733	Abnormality of adrenal physiology	3350	HTR1A	OMIM:614674
HP:0011733	Abnormality of adrenal physiology	50940	PDE11A	OMIM:610475
HP:0011733	Abnormality of adrenal physiology	50940	PDE11A	ORPHA:1359
HP:0011733	Abnormality of adrenal physiology	2737	GLI3	ORPHA:672
HP:0011733	Abnormality of adrenal physiology	55670	PEX26	ORPHA:44
HP:0011733	Abnormality of adrenal physiology	55670	PEX26	ORPHA:912
HP:0011733	Abnormality of adrenal physiology	5824	PEX19	ORPHA:44
HP:0011733	Abnormality of adrenal physiology	5824	PEX19	ORPHA:912
HP:0011733	Abnormality of adrenal physiology	5828	PEX2	ORPHA:44
HP:0011733	Abnormality of adrenal physiology	5828	PEX2	ORPHA:912
HP:0011733	Abnormality of adrenal physiology	8504	PEX3	ORPHA:44
HP:0011733	Abnormality of adrenal physiology	8504	PEX3	ORPHA:912
HP:0011733	Abnormality of adrenal physiology	9409	PEX16	ORPHA:44
HP:0011733	Abnormality of adrenal physiology	9409	PEX16	ORPHA:912
HP:0011733	Abnormality of adrenal physiology	8799	PEX11B	ORPHA:44
HP:0011733	Abnormality of adrenal physiology	8799	PEX11B	ORPHA:912
HP:0011733	Abnormality of adrenal physiology	5189	PEX1	ORPHA:44
HP:0011733	Abnormality of adrenal physiology	5189	PEX1	ORPHA:912
HP:0011733	Abnormality of adrenal physiology	5193	PEX12	ORPHA:44
HP:0011733	Abnormality of adrenal physiology	5193	PEX12	ORPHA:912
HP:0011733	Abnormality of adrenal physiology	5194	PEX13	ORPHA:44
HP:0011733	Abnormality of adrenal physiology	5194	PEX13	ORPHA:912
HP:0011733	Abnormality of adrenal physiology	5195	PEX14	ORPHA:44
HP:0011733	Abnormality of adrenal physiology	5195	PEX14	ORPHA:912
HP:0011733	Abnormality of adrenal physiology	5192	PEX10	ORPHA:44
HP:0011733	Abnormality of adrenal physiology	5192	PEX10	ORPHA:912
HP:0011733	Abnormality of adrenal physiology	284058	KANSL1	ORPHA:363958
HP:0011733	Abnormality of adrenal physiology	284058	KANSL1	ORPHA:363965
HP:0011733	Abnormality of adrenal physiology	51081	MRPS7	OMIM:617872
HP:0011733	Abnormality of adrenal physiology	3295	HSD17B4	OMIM:261515
HP:0011733	Abnormality of adrenal physiology	26123	TCTN3	ORPHA:2753
HP:0011733	Abnormality of adrenal physiology	1586	CYP17A1	ORPHA:90793
HP:0011733	Abnormality of adrenal physiology	6337	SCNN1A	OMIM:264350
HP:0011733	Abnormality of adrenal physiology	65266	WNK4	OMIM:614491
HP:0011733	Abnormality of adrenal physiology	65125	WNK1	OMIM:614492
HP:0011733	Abnormality of adrenal physiology	26249	KLHL3	OMIM:614495
HP:0011733	Abnormality of adrenal physiology	8452	CUL3	OMIM:614496
HP:0011733	Abnormality of adrenal physiology	4306	NR3C2	OMIM:177735
HP:0011733	Abnormality of adrenal physiology	6638	SNRPN	ORPHA:177904
HP:0011733	Abnormality of adrenal physiology	6638	SNRPN	ORPHA:177901
HP:0011733	Abnormality of adrenal physiology	6638	SNRPN	ORPHA:98754
HP:0011733	Abnormality of adrenal physiology	4692	NDN	ORPHA:177904
HP:0011733	Abnormality of adrenal physiology	4692	NDN	ORPHA:177901
HP:0011733	Abnormality of adrenal physiology	4692	NDN	ORPHA:98754
HP:0011733	Abnormality of adrenal physiology	4948	OCA2	ORPHA:177904
HP:0011733	Abnormality of adrenal physiology	4948	OCA2	ORPHA:177901
HP:0011733	Abnormality of adrenal physiology	4948	OCA2	ORPHA:98754
HP:0011733	Abnormality of adrenal physiology	64072	CDH23	ORPHA:91347
HP:0011733	Abnormality of adrenal physiology	64072	CDH23	ORPHA:2965
HP:0011733	Abnormality of adrenal physiology	4791	NFKB2	OMIM:615577
HP:0011733	Abnormality of adrenal physiology	5122	PCSK1	ORPHA:71528
HP:0011733	Abnormality of adrenal physiology	55699	IARS2	OMIM:616007
HP:0011733	Abnormality of adrenal physiology	4221	MEN1	ORPHA:2965
HP:0011733	Abnormality of adrenal physiology	55131	RBM28	OMIM:612079
HP:0011733	Abnormality of adrenal physiology	93627	TBCK	ORPHA:488632
HP:0011733	Abnormality of adrenal physiology	1499	CTNNB1	ORPHA:54595
HP:0011733	Abnormality of adrenal physiology	673	BRAF	ORPHA:54595
HP:0011733	Abnormality of adrenal physiology	9095	TBX19	ORPHA:199296
HP:0011733	Abnormality of adrenal physiology	1585	CYP11B2	ORPHA:556030
HP:0011733	Abnormality of adrenal physiology	1584	CYP11B1	OMIM:202010
HP:0011733	Abnormality of adrenal physiology	1589	CYP21A2	OMIM:201910
HP:0005365	Severe B lymphocytopenia	100	ADA	OMIM:102700
HP:0005365	Severe B lymphocytopenia	5896	RAG1	OMIM:603554
HP:0005365	Severe B lymphocytopenia	5897	RAG2	OMIM:603554
HP:0005365	Severe B lymphocytopenia	64421	DCLRE1C	OMIM:603554
HP:0005365	Severe B lymphocytopenia	5557	PRIM1	OMIM:620005
HP:0005365	Severe B lymphocytopenia	4791	NFKB2	ORPHA:293978
HP:0002857	Genu valgum	1497	CTNS	OMIM:219800
HP:0002857	Genu valgum	875	CBS	ORPHA:394
HP:0002857	Genu valgum	7421	VDR	ORPHA:93160
HP:0002857	Genu valgum	2131	EXT1	OMIM:133700
HP:0002857	Genu valgum	2131	EXT1	ORPHA:321
HP:0002857	Genu valgum	2131	EXT1	ORPHA:502
HP:0002857	Genu valgum	51256	TBC1D7	OMIM:248000
HP:0002857	Genu valgum	2132	EXT2	OMIM:133701
HP:0002857	Genu valgum	2132	EXT2	ORPHA:321
HP:0002857	Genu valgum	2972	BRF1	OMIM:616202
HP:0002857	Genu valgum	652	BMP4	ORPHA:828
HP:0002857	Genu valgum	7360	UGP2	OMIM:618744
HP:0002857	Genu valgum	10992	SF3B2	OMIM:164210
HP:0002857	Genu valgum	538	ATP7A	OMIM:304150
HP:0002857	Genu valgum	538	ATP7A	ORPHA:198
HP:0002857	Genu valgum	1836	SLC26A2	ORPHA:56304
HP:0002857	Genu valgum	1836	SLC26A2	ORPHA:93307
HP:0002857	Genu valgum	1836	SLC26A2	ORPHA:628
HP:0002857	Genu valgum	1836	SLC26A2	OMIM:222600
HP:0002857	Genu valgum	4125	MAN2B1	ORPHA:309282
HP:0002857	Genu valgum	58	ACTA1	ORPHA:171436
HP:0002857	Genu valgum	7169	TPM2	ORPHA:171436
HP:0002857	Genu valgum	4703	NEB	ORPHA:171436
HP:0002857	Genu valgum	10324	KLHL41	ORPHA:171436
HP:0002857	Genu valgum	56203	LMOD3	ORPHA:171436
HP:0002857	Genu valgum	1073	CFL2	ORPHA:171436
HP:0002857	Genu valgum	1278	COL1A2	ORPHA:230851
HP:0002857	Genu valgum	3021	H3-3B	OMIM:619721
HP:0002857	Genu valgum	55790	CSGALNACT1	OMIM:618870
HP:0002857	Genu valgum	23322	RPGRIP1L	OMIM:611560
HP:0002857	Genu valgum	176	ACAN	OMIM:608361
HP:0002857	Genu valgum	10686	CLDN16	OMIM:248250
HP:0002857	Genu valgum	54681	P4HTM	ORPHA:436141
HP:0002857	Genu valgum	54681	P4HTM	OMIM:618493
HP:0002857	Genu valgum	84572	GNPTG	OMIM:252605
HP:0002857	Genu valgum	5745	PTH1R	ORPHA:296
HP:0002857	Genu valgum	3418	IDH2	ORPHA:296
HP:0002857	Genu valgum	3417	IDH1	ORPHA:296
HP:0002857	Genu valgum	64324	NSD1	OMIM:117550
HP:0002857	Genu valgum	7040	TGFB1	OMIM:131300
HP:0002857	Genu valgum	7040	TGFB1	ORPHA:1328
HP:0002857	Genu valgum	9469	CHST3	OMIM:143095
HP:0002857	Genu valgum	9469	CHST3	ORPHA:263463
HP:0002857	Genu valgum	9469	CHST3	OMIM:245600
HP:0002857	Genu valgum	54880	BCOR	ORPHA:2712
HP:0002857	Genu valgum	815	CAMK2A	OMIM:617798
HP:0002857	Genu valgum	4853	NOTCH2	OMIM:102500
HP:0002857	Genu valgum	10381	TUBB3	ORPHA:300570
HP:0002857	Genu valgum	55699	IARS2	ORPHA:436174
HP:0002857	Genu valgum	55699	IARS2	OMIM:616007
HP:0002857	Genu valgum	83480	PUS3	ORPHA:488627
HP:0002857	Genu valgum	157680	VPS13B	OMIM:216550
HP:0002857	Genu valgum	157680	VPS13B	ORPHA:193
HP:0002857	Genu valgum	5566	PRKACA	ORPHA:289
HP:0002857	Genu valgum	5566	PRKACA	OMIM:619142
HP:0002857	Genu valgum	5567	PRKACB	ORPHA:289
HP:0002857	Genu valgum	5567	PRKACB	OMIM:619143
HP:0002857	Genu valgum	2735	GLI1	ORPHA:289
HP:0002857	Genu valgum	2735	GLI1	OMIM:618123
HP:0002857	Genu valgum	2121	EVC	ORPHA:289
HP:0002857	Genu valgum	2121	EVC	OMIM:225500
HP:0002857	Genu valgum	51626	DYNC2LI1	ORPHA:289
HP:0002857	Genu valgum	132884	EVC2	ORPHA:289
HP:0002857	Genu valgum	132884	EVC2	OMIM:225500
HP:0002857	Genu valgum	9839	ZEB2	ORPHA:261552
HP:0002857	Genu valgum	9839	ZEB2	ORPHA:261537
HP:0002857	Genu valgum	4763	NF1	ORPHA:363700
HP:0002857	Genu valgum	4763	NF1	OMIM:162200
HP:0002857	Genu valgum	1311	COMP	OMIM:132400
HP:0002857	Genu valgum	1311	COMP	OMIM:177170
HP:0002857	Genu valgum	1311	COMP	ORPHA:93308
HP:0002857	Genu valgum	1311	COMP	ORPHA:750
HP:0002857	Genu valgum	2720	GLB1	OMIM:253010
HP:0002857	Genu valgum	1280	COL2A1	ORPHA:85198
HP:0002857	Genu valgum	1280	COL2A1	OMIM:184250
HP:0002857	Genu valgum	1280	COL2A1	OMIM:132450
HP:0002857	Genu valgum	1280	COL2A1	ORPHA:93315
HP:0002857	Genu valgum	1280	COL2A1	ORPHA:93316
HP:0002857	Genu valgum	1280	COL2A1	ORPHA:94068
HP:0002857	Genu valgum	3425	IDUA	OMIM:607016
HP:0002857	Genu valgum	374654	KIF7	OMIM:607131
HP:0002857	Genu valgum	374654	KIF7	ORPHA:166024
HP:0002857	Genu valgum	5376	PMP22	ORPHA:3115
HP:0002857	Genu valgum	4359	MPZ	ORPHA:3115
HP:0002857	Genu valgum	1588	CYP19A1	ORPHA:91
HP:0002857	Genu valgum	9653	HS2ST1	OMIM:619194
HP:0002857	Genu valgum	5251	PHEX	ORPHA:89936
HP:0002857	Genu valgum	5251	PHEX	OMIM:307800
HP:0002857	Genu valgum	3043	HBB	ORPHA:231214
HP:0002857	Genu valgum	3043	HBB	ORPHA:231226
HP:0002857	Genu valgum	6804	STX1A	ORPHA:904
HP:0002857	Genu valgum	7461	CLIP2	ORPHA:904
HP:0002857	Genu valgum	84277	DNAJC30	ORPHA:904
HP:0002857	Genu valgum	8468	FKBP6	ORPHA:904
HP:0002857	Genu valgum	5982	RFC2	ORPHA:904
HP:0002857	Genu valgum	2969	GTF2I	ORPHA:904
HP:0002857	Genu valgum	3984	LIMK1	ORPHA:904
HP:0002857	Genu valgum	9569	GTF2IRD1	ORPHA:904
HP:0002857	Genu valgum	155382	VPS37D	ORPHA:904
HP:0002857	Genu valgum	155368	METTL27	ORPHA:904
HP:0002857	Genu valgum	114049	BUD23	ORPHA:904
HP:0002857	Genu valgum	7458	EIF4H	ORPHA:904
HP:0002857	Genu valgum	84163	GTF2IRD2	ORPHA:904
HP:0002857	Genu valgum	26608	TBL2	ORPHA:904
HP:0002857	Genu valgum	653361	NCF1	ORPHA:904
HP:0002857	Genu valgum	135886	TMEM270	ORPHA:904
HP:0002857	Genu valgum	9031	BAZ1B	ORPHA:904
HP:0002857	Genu valgum	2006	ELN	ORPHA:904
HP:0002857	Genu valgum	5593	PRKG2	OMIM:619636
HP:0002857	Genu valgum	4952	OCRL	OMIM:309000
HP:0002857	Genu valgum	4952	OCRL	ORPHA:534
HP:0002857	Genu valgum	55027	HEATR3	OMIM:620072
HP:0002857	Genu valgum	26137	ZBTB20	OMIM:259050
HP:0002857	Genu valgum	54928	BPNT2	OMIM:614078
HP:0002857	Genu valgum	8838	CCN6	ORPHA:1159
HP:0002857	Genu valgum	23187	PHLDB1	OMIM:620639
HP:0002857	Genu valgum	6473	SHOX	ORPHA:314795
HP:0002857	Genu valgum	6473	SHOX	ORPHA:240
HP:0002857	Genu valgum	3835	KIF22	OMIM:603546
HP:0002857	Genu valgum	3835	KIF22	ORPHA:93360
HP:0002857	Genu valgum	7030	TFE3	OMIM:301066
HP:0002857	Genu valgum	23162	MAPK8IP3	OMIM:618443
HP:0002857	Genu valgum	9394	HS6ST1	OMIM:614880
HP:0002857	Genu valgum	23483	TGDS	OMIM:616145
HP:0002857	Genu valgum	3977	LIFR	ORPHA:3206
HP:0002857	Genu valgum	546	ATRX	OMIM:309580
HP:0002857	Genu valgum	5167	ENPP1	OMIM:613312
HP:0002857	Genu valgum	7994	KAT6A	OMIM:616268
HP:0002857	Genu valgum	3339	HSPG2	ORPHA:800
HP:0002857	Genu valgum	1186	CLCN7	ORPHA:53
HP:0002857	Genu valgum	2316	FLNA	OMIM:309350
HP:0002857	Genu valgum	2316	FLNA	OMIM:305620
HP:0002857	Genu valgum	1297	COL9A1	ORPHA:250984
HP:0002857	Genu valgum	1297	COL9A1	ORPHA:166002
HP:0002857	Genu valgum	1297	COL9A1	OMIM:614134
HP:0002857	Genu valgum	1298	COL9A2	ORPHA:250984
HP:0002857	Genu valgum	1298	COL9A2	ORPHA:166002
HP:0002857	Genu valgum	1299	COL9A3	ORPHA:250984
HP:0002857	Genu valgum	1299	COL9A3	ORPHA:166002
HP:0002857	Genu valgum	10664	CTCF	OMIM:615502
HP:0002857	Genu valgum	2200	FBN1	ORPHA:2462
HP:0002857	Genu valgum	6497	SKI	ORPHA:2462
HP:0002857	Genu valgum	6497	SKI	OMIM:182212
HP:0002857	Genu valgum	55081	IFT57	OMIM:617927
HP:0002857	Genu valgum	865	CBFB	OMIM:620099
HP:0002857	Genu valgum	54808	DYM	ORPHA:239
HP:0002857	Genu valgum	54808	DYM	OMIM:607326
HP:0002857	Genu valgum	54808	DYM	OMIM:223800
HP:0002857	Genu valgum	8600	TNFSF11	OMIM:259710
HP:0002857	Genu valgum	9361	LONP1	OMIM:600373
HP:0002857	Genu valgum	10466	COG5	ORPHA:263487
HP:0002857	Genu valgum	579	NKX3-2	OMIM:613330
HP:0002857	Genu valgum	26160	IFT172	OMIM:615630
HP:0002857	Genu valgum	2335	FN1	ORPHA:93315
HP:0002857	Genu valgum	23394	ADNP	OMIM:615873
HP:0002857	Genu valgum	79903	NAA60	OMIM:620786
HP:0002857	Genu valgum	100033413	SNORD116-1	OMIM:176270
HP:0002857	Genu valgum	8924	HERC2	OMIM:176270
HP:0002857	Genu valgum	23742	NPAP1	OMIM:176270
HP:0002857	Genu valgum	338433	SNORD115-1	OMIM:176270
HP:0002857	Genu valgum	54551	MAGEL2	OMIM:176270
HP:0002857	Genu valgum	7681	MKRN3	OMIM:176270
HP:0002857	Genu valgum	145624	PWAR1	OMIM:176270
HP:0002857	Genu valgum	3653	IPW	OMIM:176270
HP:0002857	Genu valgum	791114	PWRN1	OMIM:176270
HP:0002857	Genu valgum	4148	MATN3	ORPHA:93311
HP:0002857	Genu valgum	4148	MATN3	OMIM:607078
HP:0002857	Genu valgum	411	ARSB	OMIM:253200
HP:0002857	Genu valgum	59341	TRPV4	OMIM:156530
HP:0002857	Genu valgum	59341	TRPV4	OMIM:168400
HP:0002857	Genu valgum	59341	TRPV4	OMIM:184095
HP:0002857	Genu valgum	91179	SCARF2	OMIM:600920
HP:0002857	Genu valgum	8882	ZPR1	OMIM:619321
HP:0002857	Genu valgum	137682	NDUFAF6	OMIM:618913
HP:0002857	Genu valgum	55784	MCTP2	ORPHA:1596
HP:0002857	Genu valgum	64135	IFIH1	OMIM:182250
HP:0002857	Genu valgum	153642	ARSK	OMIM:619698
HP:0002857	Genu valgum	4998	ORC1	OMIM:224690
HP:0002857	Genu valgum	84068	SLC10A7	OMIM:618363
HP:0002857	Genu valgum	5604	MAP2K1	ORPHA:1340
HP:0002857	Genu valgum	5605	MAP2K2	ORPHA:1340
HP:0002857	Genu valgum	3845	KRAS	ORPHA:1340
HP:0002857	Genu valgum	673	BRAF	ORPHA:1340
HP:0002857	Genu valgum	11145	PLAAT3	OMIM:620683
HP:0002857	Genu valgum	23111	SPART	ORPHA:101000
HP:0002857	Genu valgum	1301	COL11A1	ORPHA:560
HP:0002857	Genu valgum	9451	EIF2AK3	OMIM:226980
HP:0002857	Genu valgum	860	RUNX2	ORPHA:1452
HP:0002857	Genu valgum	7476	WNT7A	OMIM:613005
HP:0002857	Genu valgum	3930	LBR	OMIM:618019
HP:0002857	Genu valgum	51715	RAB23	ORPHA:65759
HP:0002857	Genu valgum	51715	RAB23	OMIM:201000
HP:0002857	Genu valgum	1954	MEGF8	ORPHA:65759
HP:0002857	Genu valgum	1300	COL10A1	OMIM:156500
HP:0002857	Genu valgum	6424	SFRP4	OMIM:265900
HP:0002857	Genu valgum	10526	IPO8	OMIM:619472
HP:0002857	Genu valgum	6711	SPTBN1	OMIM:619475
HP:0002857	Genu valgum	2588	GALNS	OMIM:253000
HP:0002857	Genu valgum	80152	CENPT	OMIM:618702
HP:0002857	Genu valgum	4796	TONSL	ORPHA:93357
HP:0002857	Genu valgum	4796	TONSL	OMIM:271510
HP:0002857	Genu valgum	5184	PEPD	ORPHA:742
HP:0002857	Genu valgum	5885	RAD21	ORPHA:502
HP:0002857	Genu valgum	7227	TRPS1	ORPHA:502
HP:0002857	Genu valgum	374879	ZNF699	OMIM:619488
HP:0002857	Genu valgum	10651	MTX2	OMIM:619127
HP:0002857	Genu valgum	4322	MMP13	OMIM:250400
HP:0002857	Genu valgum	126792	B3GALT6	OMIM:271640
HP:0002857	Genu valgum	89970	RSPRY1	ORPHA:457395
HP:0002857	Genu valgum	2990	GUSB	OMIM:253220
HP:0002857	Genu valgum	8139	GAN	ORPHA:643
HP:0002857	Genu valgum	26229	B3GAT3	OMIM:245600
HP:0002857	Genu valgum	83452	RAB33B	OMIM:615222
HP:0002857	Genu valgum	80169	CTC1	OMIM:612199
HP:0002857	Genu valgum	25871	NEPRO	OMIM:618853
HP:0002857	Genu valgum	871	SERPINH1	OMIM:613848
HP:0002858	Meningioma	5727	PTCH1	ORPHA:377
HP:0002858	Meningioma	8643	PTCH2	ORPHA:377
HP:0002858	Meningioma	51684	SUFU	ORPHA:377
HP:0002858	Meningioma	51684	SUFU	OMIM:620343
HP:0002858	Meningioma	51684	SUFU	OMIM:607174
HP:0002858	Meningioma	4221	MEN1	ORPHA:652
HP:0002858	Meningioma	1027	CDKN1B	ORPHA:652
HP:0002858	Meningioma	1026	CDKN1A	ORPHA:652
HP:0002858	Meningioma	1030	CDKN2B	ORPHA:652
HP:0002858	Meningioma	1031	CDKN2C	ORPHA:652
HP:0002858	Meningioma	4763	NF1	OMIM:162200
HP:0002858	Meningioma	4913	NTHL1	ORPHA:454840
HP:0002858	Meningioma	4913	NTHL1	OMIM:616415
HP:0002858	Meningioma	1387	CREBBP	ORPHA:353277
HP:0002858	Meningioma	1387	CREBBP	ORPHA:353281
HP:0002858	Meningioma	8314	BAP1	OMIM:614327
HP:0002858	Meningioma	8930	MBD4	OMIM:619975
HP:0002858	Meningioma	5728	PTEN	ORPHA:109
HP:0002858	Meningioma	5728	PTEN	ORPHA:201
HP:0002858	Meningioma	5728	PTEN	OMIM:158350
HP:0002858	Meningioma	5728	PTEN	OMIM:613028
HP:0002858	Meningioma	5728	PTEN	OMIM:607174
HP:0002858	Meningioma	7486	WRN	ORPHA:902
HP:0002858	Meningioma	7486	WRN	OMIM:277700
HP:0002858	Meningioma	207	AKT1	ORPHA:744
HP:0002858	Meningioma	207	AKT1	ORPHA:201
HP:0002858	Meningioma	207	AKT1	OMIM:615109
HP:0002858	Meningioma	11200	CHEK2	OMIM:609265
HP:0002858	Meningioma	10483	SEC23B	ORPHA:201
HP:0002858	Meningioma	6390	SDHB	ORPHA:201
HP:0002858	Meningioma	6392	SDHD	ORPHA:201
HP:0002858	Meningioma	6391	SDHC	ORPHA:201
HP:0002858	Meningioma	205717	USF3	ORPHA:201
HP:0002858	Meningioma	5290	PIK3CA	ORPHA:201
HP:0002858	Meningioma	5290	PIK3CA	OMIM:602501
HP:0002858	Meningioma	5290	PIK3CA	ORPHA:221061
HP:0002858	Meningioma	5290	PIK3CA	OMIM:615108
HP:0002858	Meningioma	100144748	KLLN	ORPHA:201
HP:0002858	Meningioma	11235	PDCD10	ORPHA:221061
HP:0002858	Meningioma	83605	CCM2	ORPHA:221061
HP:0002858	Meningioma	889	KRIT1	ORPHA:221061
HP:0002858	Meningioma	8665	EIF3F	OMIM:618295
HP:0002858	Meningioma	6598	SMARCB1	OMIM:162091
HP:0002858	Meningioma	6598	SMARCB1	ORPHA:93921
HP:0002858	Meningioma	4893	NRAS	OMIM:249400
HP:0002858	Meningioma	79798	ARMC5	ORPHA:189427
HP:0002858	Meningioma	23028	KDM1A	ORPHA:189427
HP:0002858	Meningioma	2778	GNAS	ORPHA:189427
HP:0002858	Meningioma	4771	NF2	ORPHA:93921
HP:0002858	Meningioma	4771	NF2	ORPHA:637
HP:0002858	Meningioma	4771	NF2	OMIM:607174
HP:0002858	Meningioma	4771	NF2	OMIM:101000
HP:0002858	Meningioma	51004	COQ6	ORPHA:93921
HP:0002858	Meningioma	8216	LZTR1	ORPHA:93921
HP:0002858	Meningioma	2033	EP300	ORPHA:353284
HP:0002858	Meningioma	4000	LMNA	ORPHA:79474
HP:0002858	Meningioma	6605	SMARCE1	OMIM:607174
HP:0002858	Meningioma	4330	MN1	OMIM:607174
HP:0002858	Meningioma	5155	PDGFB	OMIM:607174
HP:0002858	Meningioma	84231	TRAF7	ORPHA:2495
HP:0002858	Meningioma	6608	SMO	ORPHA:2495
HP:0002858	Meningioma	7015	TERT	ORPHA:2495
HP:0002859	Rhabdomyosarcoma	23405	DICER1	OMIM:601200
HP:0002859	Rhabdomyosarcoma	5727	PTCH1	ORPHA:77301
HP:0002859	Rhabdomyosarcoma	4763	NF1	OMIM:162200
HP:0002859	Rhabdomyosarcoma	4763	NF1	ORPHA:97685
HP:0002859	Rhabdomyosarcoma	9184	BUB3	ORPHA:1052
HP:0002859	Rhabdomyosarcoma	699	BUB1	ORPHA:1052
HP:0002859	Rhabdomyosarcoma	9702	CEP57	ORPHA:1052
HP:0002859	Rhabdomyosarcoma	9319	TRIP13	ORPHA:1052
HP:0002859	Rhabdomyosarcoma	701	BUB1B	ORPHA:1052
HP:0002859	Rhabdomyosarcoma	4683	NBN	OMIM:251260
HP:0002859	Rhabdomyosarcoma	4683	NBN	ORPHA:647
HP:0002859	Rhabdomyosarcoma	3265	HRAS	OMIM:218040
HP:0002859	Rhabdomyosarcoma	3265	HRAS	ORPHA:2874
HP:0002859	Rhabdomyosarcoma	4292	MLH1	OMIM:276300
HP:0002859	Rhabdomyosarcoma	7157	TP53	ORPHA:524
HP:0002859	Rhabdomyosarcoma	1029	CDKN2A	ORPHA:524
HP:0002859	Rhabdomyosarcoma	4193	MDM2	ORPHA:524
HP:0002859	Rhabdomyosarcoma	11200	CHEK2	ORPHA:524
HP:0002859	Rhabdomyosarcoma	5002	SLC22A18	OMIM:268210
HP:0002859	Rhabdomyosarcoma	8379	MAD1L1	OMIM:620189
HP:0002859	Rhabdomyosarcoma	2308	FOXO1	OMIM:268220
HP:0002859	Rhabdomyosarcoma	5077	PAX3	OMIM:268220
HP:0002859	Rhabdomyosarcoma	5081	PAX7	OMIM:268220
HP:0002859	Rhabdomyosarcoma	9817	KEAP1	ORPHA:276399
HP:4000001	Abnormal cardiac magnetic resonance imaging finding	80206	FHOD3	OMIM:619402
HP:4000004	Myocardial late gadolinium enhancement	80206	FHOD3	OMIM:619402
HP:4000007	Bronchoconstriction	546	ATRX	ORPHA:100075
HP:4000007	Bronchoconstriction	7259	TSPYL1	OMIM:608800
HP:4000007	Bronchoconstriction	30009	TBX21	OMIM:208550
HP:4000007	Bronchoconstriction	5732	PTGER2	OMIM:208550
HP:4000007	Bronchoconstriction	2588	GALNS	OMIM:253000
HP:4000007	Bronchoconstriction	240	ALOX5	OMIM:600807
HP:4000007	Bronchoconstriction	6356	CCL11	OMIM:600807
HP:4000007	Bronchoconstriction	7124	TNF	OMIM:600807
HP:4000007	Bronchoconstriction	3176	HNMT	OMIM:600807
HP:4000007	Bronchoconstriction	4589	MUC7	OMIM:600807
HP:4000007	Bronchoconstriction	117156	SCGB3A2	OMIM:600807
HP:4000007	Bronchoconstriction	3135	HLA-G	OMIM:600807
HP:4000007	Bronchoconstriction	3596	IL13	OMIM:600807
HP:4000007	Bronchoconstriction	6392	SDHD	ORPHA:100093
HP:4000007	Bronchoconstriction	404672	GTF2H5	ORPHA:33364
HP:4000007	Bronchoconstriction	833	CARS1	ORPHA:33364
HP:4000007	Bronchoconstriction	2068	ERCC2	ORPHA:33364
HP:4000007	Bronchoconstriction	7737	RNF113A	ORPHA:33364
HP:4000007	Bronchoconstriction	136647	MPLKIP	ORPHA:33364
HP:4000007	Bronchoconstriction	6897	TARS1	ORPHA:33364
HP:4000007	Bronchoconstriction	16	AARS1	ORPHA:33364
HP:4000007	Bronchoconstriction	2071	ERCC3	ORPHA:33364
HP:4000007	Bronchoconstriction	2961	GTF2E2	ORPHA:33364
HP:4000007	Bronchoconstriction	176	ACAN	OMIM:612813
HP:4000008	Formation of multiple pronuclei during fertilization	283677	REC114	OMIM:619176
HP:0002860	Squamous cell carcinoma	10804	GJB6	ORPHA:477
HP:0002860	Squamous cell carcinoma	2706	GJB2	ORPHA:477
HP:0002860	Squamous cell carcinoma	2706	GJB2	OMIM:602540
HP:0002860	Squamous cell carcinoma	2706	GJB2	OMIM:148210
HP:0002860	Squamous cell carcinoma	80326	WNT10A	OMIM:224750
HP:0002860	Squamous cell carcinoma	80326	WNT10A	ORPHA:50944
HP:0002860	Squamous cell carcinoma	10519	CIB1	OMIM:618267
HP:0002860	Squamous cell carcinoma	10519	CIB1	ORPHA:302
HP:0002860	Squamous cell carcinoma	1029	CDKN2A	OMIM:606719
HP:0002860	Squamous cell carcinoma	9401	RECQL4	ORPHA:221016
HP:0002860	Squamous cell carcinoma	9401	RECQL4	OMIM:268400
HP:0002860	Squamous cell carcinoma	55851	PSENEN	OMIM:613736
HP:0002860	Squamous cell carcinoma	8795	TNFRSF10B	OMIM:275355
HP:0002860	Squamous cell carcinoma	3621	ING1	OMIM:275355
HP:0002860	Squamous cell carcinoma	1736	DKC1	OMIM:305000
HP:0002860	Squamous cell carcinoma	7486	WRN	ORPHA:902
HP:0002860	Squamous cell carcinoma	11322	TMC6	ORPHA:302
HP:0002860	Squamous cell carcinoma	3574	IL7	ORPHA:302
HP:0002860	Squamous cell carcinoma	147138	TMC8	ORPHA:302
HP:0002860	Squamous cell carcinoma	7373	COL14A1	ORPHA:79501
HP:0002860	Squamous cell carcinoma	79719	AAGAB	ORPHA:79501
HP:0002860	Squamous cell carcinoma	3909	LAMA3	ORPHA:79404
HP:0002860	Squamous cell carcinoma	3918	LAMC2	ORPHA:79404
HP:0002860	Squamous cell carcinoma	3914	LAMB3	ORPHA:79404
HP:0002860	Squamous cell carcinoma	1308	COL17A1	ORPHA:79406
HP:0002860	Squamous cell carcinoma	4312	MMP1	ORPHA:79408
HP:0002860	Squamous cell carcinoma	1294	COL7A1	ORPHA:79408
HP:0002860	Squamous cell carcinoma	1294	COL7A1	ORPHA:79409
HP:0002860	Squamous cell carcinoma	1294	COL7A1	OMIM:226600
HP:0002860	Squamous cell carcinoma	1294	COL7A1	ORPHA:89842
HP:0002860	Squamous cell carcinoma	1294	COL7A1	ORPHA:79410
HP:0002860	Squamous cell carcinoma	1294	COL7A1	ORPHA:79411
HP:0002860	Squamous cell carcinoma	641	BLM	OMIM:210900
HP:0002860	Squamous cell carcinoma	5429	POLH	OMIM:278750
HP:0002860	Squamous cell carcinoma	5429	POLH	ORPHA:90342
HP:0002860	Squamous cell carcinoma	55612	FERMT1	ORPHA:2908
HP:0002860	Squamous cell carcinoma	4913	NTHL1	ORPHA:454840
HP:0002860	Squamous cell carcinoma	2072	ERCC4	OMIM:278760
HP:0002860	Squamous cell carcinoma	84464	SLX4	OMIM:613951
HP:0002860	Squamous cell carcinoma	404672	GTF2H5	ORPHA:33364
HP:0002860	Squamous cell carcinoma	833	CARS1	ORPHA:33364
HP:0002860	Squamous cell carcinoma	2068	ERCC2	ORPHA:33364
HP:0002860	Squamous cell carcinoma	2068	ERCC2	OMIM:601675
HP:0002860	Squamous cell carcinoma	7737	RNF113A	ORPHA:33364
HP:0002860	Squamous cell carcinoma	136647	MPLKIP	ORPHA:33364
HP:0002860	Squamous cell carcinoma	6897	TARS1	ORPHA:33364
HP:0002860	Squamous cell carcinoma	16	AARS1	ORPHA:33364
HP:0002860	Squamous cell carcinoma	2071	ERCC3	ORPHA:33364
HP:0002860	Squamous cell carcinoma	2961	GTF2E2	ORPHA:33364
HP:0002860	Squamous cell carcinoma	81704	DOCK8	OMIM:243700
HP:0002860	Squamous cell carcinoma	81704	DOCK8	ORPHA:217390
HP:0002860	Squamous cell carcinoma	23328	SASH1	OMIM:618373
HP:0002860	Squamous cell carcinoma	22861	NLRP1	OMIM:615225
HP:0002860	Squamous cell carcinoma	2224	FDPS	ORPHA:79152
HP:0002860	Squamous cell carcinoma	4597	MVD	ORPHA:79152
HP:0002860	Squamous cell carcinoma	63910	SLC17A9	ORPHA:79152
HP:0002860	Squamous cell carcinoma	4598	MVK	ORPHA:79152
HP:0002860	Squamous cell carcinoma	7390	UROS	ORPHA:79277
HP:0002860	Squamous cell carcinoma	2623	GATA1	ORPHA:79277
HP:0002860	Squamous cell carcinoma	23476	BRD4	ORPHA:443167
HP:0002860	Squamous cell carcinoma	256646	NUTM1	ORPHA:443167
HP:0002860	Squamous cell carcinoma	1075	CTSC	ORPHA:678
HP:0002860	Squamous cell carcinoma	64682	ANAPC1	ORPHA:221008
HP:0002860	Squamous cell carcinoma	7298	TYMS	OMIM:620040
HP:0002860	Squamous cell carcinoma	284654	RSPO1	ORPHA:85112
HP:0002860	Squamous cell carcinoma	1643	DDB2	OMIM:278740
HP:0002860	Squamous cell carcinoma	4000	LMNA	ORPHA:363618
HP:0002860	Squamous cell carcinoma	2073	ERCC5	ORPHA:220295
HP:0002860	Squamous cell carcinoma	56916	SMARCAD1	OMIM:181600
HP:0002860	Squamous cell carcinoma	26277	TINF2	OMIM:127550
HP:0002860	Squamous cell carcinoma	7012	TERC	OMIM:127550
HP:0002860	Squamous cell carcinoma	7015	TERT	OMIM:127550
HP:0002860	Squamous cell carcinoma	6775	STAT4	OMIM:620443
HP:0002860	Squamous cell carcinoma	3852	KRT5	ORPHA:79396
HP:0002860	Squamous cell carcinoma	3861	KRT14	ORPHA:79396
HP:0002860	Squamous cell carcinoma	7299	TYR	ORPHA:79431
HP:0002860	Squamous cell carcinoma	7299	TYR	ORPHA:79434
HP:0002860	Squamous cell carcinoma	92345	NAF1	OMIM:620365
HP:0002860	Squamous cell carcinoma	4157	MC1R	ORPHA:79432
HP:0002860	Squamous cell carcinoma	4948	OCA2	ORPHA:79432
HP:0002860	Squamous cell carcinoma	7508	XPC	OMIM:278720
HP:0002860	Squamous cell carcinoma	7507	XPA	OMIM:278700
HP:0002860	Squamous cell carcinoma	545	ATR	OMIM:614564
HP:0002860	Squamous cell carcinoma	6772	STAT1	ORPHA:391487
HP:0002861	Melanoma	7298	TYMS	OMIM:620040
HP:0002861	Melanoma	54894	RNF43	ORPHA:157798
HP:0002861	Melanoma	284058	KANSL1	ORPHA:363958
HP:0002861	Melanoma	284058	KANSL1	ORPHA:363965
HP:0002861	Melanoma	388662	SLC6A17	ORPHA:457212
HP:0002861	Melanoma	285282	RABL3	OMIM:618680
HP:0002861	Melanoma	285282	RABL3	ORPHA:1333
HP:0002861	Melanoma	7015	TERT	OMIM:615134
HP:0002861	Melanoma	7015	TERT	ORPHA:618
HP:0002861	Melanoma	1029	CDKN2A	OMIM:606719
HP:0002861	Melanoma	1029	CDKN2A	ORPHA:524
HP:0002861	Melanoma	1029	CDKN2A	ORPHA:1333
HP:0002861	Melanoma	1029	CDKN2A	ORPHA:618
HP:0002861	Melanoma	1643	DDB2	OMIM:278740
HP:0002861	Melanoma	1643	DDB2	ORPHA:910
HP:0002861	Melanoma	9401	RECQL4	ORPHA:221016
HP:0002861	Melanoma	2074	ERCC6	OMIM:278800
HP:0002861	Melanoma	7486	WRN	ORPHA:902
HP:0002861	Melanoma	5429	POLH	ORPHA:90342
HP:0002861	Melanoma	5781	PTPN11	ORPHA:500
HP:0002861	Melanoma	673	BRAF	ORPHA:500
HP:0002861	Melanoma	5894	RAF1	ORPHA:500
HP:0002861	Melanoma	7507	XPA	OMIM:278700
HP:0002861	Melanoma	7507	XPA	ORPHA:910
HP:0002861	Melanoma	7373	COL14A1	ORPHA:79501
HP:0002861	Melanoma	79719	AAGAB	ORPHA:79501
HP:0002861	Melanoma	7157	TP53	ORPHA:524
HP:0002861	Melanoma	7157	TP53	ORPHA:145
HP:0002861	Melanoma	7157	TP53	ORPHA:1333
HP:0002861	Melanoma	4193	MDM2	ORPHA:524
HP:0002861	Melanoma	11200	CHEK2	ORPHA:524
HP:0002861	Melanoma	11200	CHEK2	ORPHA:145
HP:0002861	Melanoma	672	BRCA1	ORPHA:145
HP:0002861	Melanoma	672	BRCA1	ORPHA:1333
HP:0002861	Melanoma	5892	RAD51D	ORPHA:145
HP:0002861	Melanoma	675	BRCA2	ORPHA:145
HP:0002861	Melanoma	675	BRCA2	ORPHA:1333
HP:0002861	Melanoma	5728	PTEN	ORPHA:145
HP:0002861	Melanoma	5728	PTEN	ORPHA:201
HP:0002861	Melanoma	10111	RAD50	ORPHA:145
HP:0002861	Melanoma	580	BARD1	ORPHA:145
HP:0002861	Melanoma	5888	RAD51	ORPHA:145
HP:0002861	Melanoma	4683	NBN	ORPHA:145
HP:0002861	Melanoma	5889	RAD51C	ORPHA:145
HP:0002861	Melanoma	83990	BRIP1	ORPHA:145
HP:0002861	Melanoma	4361	MRE11	ORPHA:145
HP:0002861	Melanoma	79728	PALB2	ORPHA:145
HP:0002861	Melanoma	79728	PALB2	ORPHA:1333
HP:0002861	Melanoma	10483	SEC23B	ORPHA:201
HP:0002861	Melanoma	6390	SDHB	ORPHA:201
HP:0002861	Melanoma	6392	SDHD	ORPHA:201
HP:0002861	Melanoma	6391	SDHC	ORPHA:201
HP:0002861	Melanoma	207	AKT1	ORPHA:201
HP:0002861	Melanoma	205717	USF3	ORPHA:201
HP:0002861	Melanoma	5290	PIK3CA	ORPHA:201
HP:0002861	Melanoma	100144748	KLLN	ORPHA:201
HP:0002861	Melanoma	4893	NRAS	OMIM:249400
HP:0002861	Melanoma	3845	KRAS	ORPHA:1333
HP:0002861	Melanoma	4089	SMAD4	ORPHA:1333
HP:0002861	Melanoma	23022	PALLD	ORPHA:1333
HP:0002861	Melanoma	2068	ERCC2	ORPHA:220295
HP:0002861	Melanoma	2068	ERCC2	OMIM:278730
HP:0002861	Melanoma	2068	ERCC2	ORPHA:910
HP:0002861	Melanoma	2073	ERCC5	ORPHA:220295
HP:0002861	Melanoma	2073	ERCC5	ORPHA:910
HP:0002861	Melanoma	2072	ERCC4	ORPHA:220295
HP:0002861	Melanoma	2072	ERCC4	ORPHA:910
HP:0002861	Melanoma	2071	ERCC3	ORPHA:220295
HP:0002861	Melanoma	2071	ERCC3	ORPHA:910
HP:0002861	Melanoma	8314	BAP1	ORPHA:618
HP:0002861	Melanoma	4286	MITF	ORPHA:618
HP:0002861	Melanoma	1019	CDK4	ORPHA:618
HP:0002861	Melanoma	4255	MGMT	ORPHA:618
HP:0002861	Melanoma	54386	TERF2IP	ORPHA:618
HP:0002861	Melanoma	4157	MC1R	ORPHA:618
HP:0002861	Melanoma	65057	ACD	ORPHA:618
HP:0002861	Melanoma	25913	POT1	ORPHA:618
HP:0002861	Melanoma	25913	POT1	OMIM:615848
HP:0002861	Melanoma	1030	CDKN2B	ORPHA:618
HP:0002861	Melanoma	51360	MBTPS2	ORPHA:659
HP:0002861	Melanoma	162514	TRPV3	ORPHA:659
HP:0002861	Melanoma	64065	PERP	ORPHA:659
HP:0002861	Melanoma	7299	TYR	ORPHA:79434
HP:0002861	Melanoma	7508	XPC	ORPHA:910
HP:0002861	Melanoma	1075	CTSC	ORPHA:678
HP:0002861	Melanoma	64682	ANAPC1	ORPHA:221008
HP:0002861	Melanoma	8930	MBD4	OMIM:619975
HP:0002861	Melanoma	8930	MBD4	OMIM:606660
HP:0002861	Melanoma	6794	STK11	OMIM:155600
HP:0002861	Melanoma	57105	CYSLTR2	ORPHA:39044
HP:0002861	Melanoma	2776	GNAQ	ORPHA:39044
HP:0002861	Melanoma	2767	GNA11	ORPHA:39044
HP:0002861	Melanoma	23451	SF3B1	ORPHA:39044
HP:0002861	Melanoma	1308	COL17A1	ORPHA:79406
HP:0002861	Melanoma	4312	MMP1	ORPHA:79408
HP:0002861	Melanoma	1294	COL7A1	ORPHA:79408
HP:0002861	Melanoma	1294	COL7A1	ORPHA:79409
HP:0002861	Melanoma	1294	COL7A1	ORPHA:79410
HP:0002861	Melanoma	1294	COL7A1	ORPHA:79411
HP:0002861	Melanoma	3265	HRAS	OMIM:137550
HP:0002861	Melanoma	3265	HRAS	ORPHA:2874
HP:0002861	Melanoma	7852	CXCR4	ORPHA:51636
HP:0002861	Melanoma	6660	SOX5	ORPHA:626
HP:0002861	Melanoma	238	ALK	ORPHA:626
HP:0002861	Melanoma	9839	ZEB2	ORPHA:626
HP:0002861	Melanoma	4948	OCA2	ORPHA:79432
HP:0002862	Bladder carcinoma	538	ATP7A	OMIM:304150
HP:0002862	Bladder carcinoma	3265	HRAS	OMIM:218040
HP:0002862	Bladder carcinoma	54894	RNF43	ORPHA:157798
HP:0002862	Bladder carcinoma	699	BUB1	OMIM:114500
HP:0002862	Bladder carcinoma	581	BAX	OMIM:114500
HP:0002862	Bladder carcinoma	25788	RAD54B	OMIM:114500
HP:0002862	Bladder carcinoma	5795	PTPRJ	OMIM:114500
HP:0002862	Bladder carcinoma	5157	PDGFRL	OMIM:114500
HP:0002862	Bladder carcinoma	1630	DCC	OMIM:114500
HP:0002862	Bladder carcinoma	207	AKT1	OMIM:114500
HP:0002862	Bladder carcinoma	207	AKT1	OMIM:615109
HP:0002862	Bladder carcinoma	7157	TP53	OMIM:114500
HP:0002862	Bladder carcinoma	673	BRAF	OMIM:114500
HP:0002862	Bladder carcinoma	10395	DLC1	OMIM:114500
HP:0002862	Bladder carcinoma	8313	AXIN2	OMIM:114500
HP:0002862	Bladder carcinoma	4163	MCC	OMIM:114500
HP:0002862	Bladder carcinoma	2261	FGFR3	OMIM:114500
HP:0002862	Bladder carcinoma	2261	FGFR3	OMIM:109800
HP:0002862	Bladder carcinoma	201163	FLCN	OMIM:114500
HP:0002862	Bladder carcinoma	595	CCND1	OMIM:114500
HP:0002862	Bladder carcinoma	7097	TLR2	OMIM:114500
HP:0002862	Bladder carcinoma	6714	SRC	OMIM:114500
HP:0002862	Bladder carcinoma	2033	EP300	OMIM:114500
HP:0002862	Bladder carcinoma	27030	MLH3	OMIM:114500
HP:0002862	Bladder carcinoma	5320	PLA2G2A	OMIM:114500
HP:0002862	Bladder carcinoma	1499	CTNNB1	OMIM:114500
HP:0002862	Bladder carcinoma	6790	AURKA	OMIM:114500
HP:0002862	Bladder carcinoma	4893	NRAS	OMIM:114500
HP:0002862	Bladder carcinoma	324	APC	OMIM:114500
HP:0002862	Bladder carcinoma	701	BUB1B	OMIM:114500
HP:0002862	Bladder carcinoma	5782	PTPN12	OMIM:114500
HP:0002862	Bladder carcinoma	5290	PIK3CA	OMIM:114500
HP:0002862	Bladder carcinoma	5290	PIK3CA	OMIM:615108
HP:0002862	Bladder carcinoma	5728	PTEN	OMIM:158350
HP:0002862	Bladder carcinoma	5925	RB1	OMIM:109800
HP:0002862	Bladder carcinoma	3845	KRAS	OMIM:109800
HP:0002863	Myelodysplasia	128	ADH5	OMIM:619151
HP:0002863	Myelodysplasia	4352	MPL	ORPHA:71493
HP:0002863	Myelodysplasia	4352	MPL	ORPHA:3318
HP:0002863	Myelodysplasia	7066	THPO	ORPHA:71493
HP:0002863	Myelodysplasia	3717	JAK2	ORPHA:71493
HP:0002863	Myelodysplasia	3717	JAK2	ORPHA:729
HP:0002863	Myelodysplasia	3717	JAK2	ORPHA:3318
HP:0002863	Myelodysplasia	6208	RPS14	OMIM:153550
HP:0002863	Myelodysplasia	6208	RPS14	ORPHA:86841
HP:0002863	Myelodysplasia	54809	SAMD9	OMIM:617053
HP:0002863	Myelodysplasia	54809	SAMD9	OMIM:619041
HP:0002863	Myelodysplasia	8294	H4C9	OMIM:619951
HP:0002863	Myelodysplasia	23308	ICOSLG	OMIM:620825
HP:0002863	Myelodysplasia	7015	TERT	OMIM:614742
HP:0002863	Myelodysplasia	7015	TERT	OMIM:127550
HP:0002863	Myelodysplasia	9401	RECQL4	ORPHA:221016
HP:0002863	Myelodysplasia	219285	SAMD9L	OMIM:252270
HP:0002863	Myelodysplasia	171023	ASXL1	ORPHA:98849
HP:0002863	Myelodysplasia	171023	ASXL1	OMIM:614286
HP:0002863	Myelodysplasia	54790	TET2	ORPHA:98849
HP:0002863	Myelodysplasia	54790	TET2	ORPHA:75564
HP:0002863	Myelodysplasia	54790	TET2	OMIM:614286
HP:0002863	Myelodysplasia	54790	TET2	ORPHA:98826
HP:0002863	Myelodysplasia	54790	TET2	ORPHA:3318
HP:0002863	Myelodysplasia	3815	KIT	ORPHA:98849
HP:0002863	Myelodysplasia	6427	SRSF2	ORPHA:98849
HP:0002863	Myelodysplasia	1736	DKC1	OMIM:305000
HP:0002863	Myelodysplasia	5781	PTPN11	ORPHA:500
HP:0002863	Myelodysplasia	673	BRAF	ORPHA:500
HP:0002863	Myelodysplasia	5894	RAF1	ORPHA:500
HP:0002863	Myelodysplasia	23451	SF3B1	ORPHA:75564
HP:0002863	Myelodysplasia	23451	SF3B1	OMIM:614286
HP:0002863	Myelodysplasia	3981	LIG4	OMIM:606593
HP:0002863	Myelodysplasia	114803	MYSM1	ORPHA:508542
HP:0002863	Myelodysplasia	7317	UBA1	OMIM:301054
HP:0002863	Myelodysplasia	6729	SRP54	OMIM:260400
HP:0002863	Myelodysplasia	51119	SBDS	OMIM:260400
HP:0002863	Myelodysplasia	51119	SBDS	ORPHA:811
HP:0002863	Myelodysplasia	134218	DNAJC21	OMIM:260400
HP:0002863	Myelodysplasia	134218	DNAJC21	ORPHA:811
HP:0002863	Myelodysplasia	55159	RFWD3	OMIM:617784
HP:0002863	Myelodysplasia	55159	RFWD3	ORPHA:84
HP:0002863	Myelodysplasia	546	ATRX	OMIM:300448
HP:0002863	Myelodysplasia	546	ATRX	ORPHA:231401
HP:0002863	Myelodysplasia	6731	SRP72	OMIM:614675
HP:0002863	Myelodysplasia	2624	GATA2	OMIM:614038
HP:0002863	Myelodysplasia	2624	GATA2	OMIM:614286
HP:0002863	Myelodysplasia	2624	GATA2	OMIM:614172
HP:0002863	Myelodysplasia	6117	RPA1	OMIM:619767
HP:0002863	Myelodysplasia	7486	WRN	OMIM:277700
HP:0002863	Myelodysplasia	26277	TINF2	OMIM:127550
HP:0002863	Myelodysplasia	7012	TERC	OMIM:127550
HP:0002863	Myelodysplasia	9837	GINS1	OMIM:617827
HP:0002863	Myelodysplasia	79631	EFL1	ORPHA:811
HP:0002863	Myelodysplasia	2189	FANCG	OMIM:614082
HP:0002863	Myelodysplasia	2189	FANCG	ORPHA:84
HP:0002863	Myelodysplasia	2782	GNB1	OMIM:614286
HP:0002863	Myelodysplasia	6603	SMARCD2	OMIM:617475
HP:0002863	Myelodysplasia	162417	NAGS	ORPHA:927
HP:0002863	Myelodysplasia	672	BRCA1	ORPHA:84
HP:0002863	Myelodysplasia	10459	MAD2L2	ORPHA:84
HP:0002863	Myelodysplasia	7516	XRCC2	ORPHA:84
HP:0002863	Myelodysplasia	29089	UBE2T	ORPHA:84
HP:0002863	Myelodysplasia	675	BRCA2	ORPHA:84
HP:0002863	Myelodysplasia	55120	FANCL	ORPHA:84
HP:0002863	Myelodysplasia	2177	FANCD2	ORPHA:84
HP:0002863	Myelodysplasia	2175	FANCA	ORPHA:84
HP:0002863	Myelodysplasia	2187	FANCB	ORPHA:84
HP:0002863	Myelodysplasia	2176	FANCC	ORPHA:84
HP:0002863	Myelodysplasia	2178	FANCE	ORPHA:84
HP:0002863	Myelodysplasia	2188	FANCF	ORPHA:84
HP:0002863	Myelodysplasia	5888	RAD51	ORPHA:84
HP:0002863	Myelodysplasia	5889	RAD51C	ORPHA:84
HP:0002863	Myelodysplasia	83990	BRIP1	ORPHA:84
HP:0002863	Myelodysplasia	57697	FANCM	ORPHA:84
HP:0002863	Myelodysplasia	79728	PALB2	ORPHA:84
HP:0002863	Myelodysplasia	84464	SLX4	ORPHA:84
HP:0002863	Myelodysplasia	2072	ERCC4	ORPHA:84
HP:0002863	Myelodysplasia	55215	FANCI	ORPHA:84
HP:0002863	Myelodysplasia	92345	NAF1	OMIM:620365
HP:0002863	Myelodysplasia	23218	NBEAL2	ORPHA:721
HP:0002863	Myelodysplasia	6223	RPS19	OMIM:105650
HP:0002863	Myelodysplasia	6223	RPS19	ORPHA:124
HP:0002863	Myelodysplasia	7157	TP53	ORPHA:524
HP:0002863	Myelodysplasia	7157	TP53	ORPHA:3318
HP:0002863	Myelodysplasia	1029	CDKN2A	ORPHA:524
HP:0002863	Myelodysplasia	4193	MDM2	ORPHA:524
HP:0002863	Myelodysplasia	11200	CHEK2	ORPHA:524
HP:0002863	Myelodysplasia	1441	CSF3R	OMIM:162830
HP:0002863	Myelodysplasia	10312	TCIRG1	ORPHA:486
HP:0002863	Myelodysplasia	6728	SRP19	ORPHA:486
HP:0002863	Myelodysplasia	1991	ELANE	ORPHA:486
HP:0002863	Myelodysplasia	2672	GFI1	ORPHA:486
HP:0002863	Myelodysplasia	81570	CLPB	ORPHA:486
HP:0002863	Myelodysplasia	861	RUNX1	OMIM:601399
HP:0002863	Myelodysplasia	641	BLM	ORPHA:125
HP:0002863	Myelodysplasia	6138	RPL15	ORPHA:124
HP:0002863	Myelodysplasia	6224	RPS20	ORPHA:124
HP:0002863	Myelodysplasia	6165	RPL35A	ORPHA:124
HP:0002863	Myelodysplasia	6132	RPL8	ORPHA:124
HP:0002863	Myelodysplasia	6232	RPS27	ORPHA:124
HP:0002863	Myelodysplasia	55027	HEATR3	ORPHA:124
HP:0002863	Myelodysplasia	6160	RPL31	ORPHA:124
HP:0002863	Myelodysplasia	6201	RPS7	ORPHA:124
HP:0002863	Myelodysplasia	6155	RPL27	ORPHA:124
HP:0002863	Myelodysplasia	6234	RPS28	ORPHA:124
HP:0002863	Myelodysplasia	6135	RPL11	ORPHA:124
HP:0002863	Myelodysplasia	6229	RPS24	ORPHA:124
HP:0002863	Myelodysplasia	6125	RPL5	ORPHA:124
HP:0002863	Myelodysplasia	6204	RPS10	ORPHA:124
HP:0002863	Myelodysplasia	2623	GATA1	ORPHA:124
HP:0002863	Myelodysplasia	6133	RPL9	ORPHA:124
HP:0002863	Myelodysplasia	6231	RPS26	ORPHA:124
HP:0002863	Myelodysplasia	11224	RPL35	ORPHA:124
HP:0002863	Myelodysplasia	6218	RPS17	ORPHA:124
HP:0002863	Myelodysplasia	6154	RPL26	ORPHA:124
HP:0002863	Myelodysplasia	6210	RPS15A	ORPHA:124
HP:0002863	Myelodysplasia	90121	TSR2	ORPHA:124
HP:0002863	Myelodysplasia	6141	RPL18	ORPHA:124
HP:0002863	Myelodysplasia	6235	RPS29	ORPHA:124
HP:0002863	Myelodysplasia	51816	ADA2	ORPHA:124
HP:0002863	Myelodysplasia	9184	BUB3	ORPHA:1052
HP:0002863	Myelodysplasia	699	BUB1	ORPHA:1052
HP:0002863	Myelodysplasia	9702	CEP57	ORPHA:1052
HP:0002863	Myelodysplasia	9319	TRIP13	ORPHA:1052
HP:0002863	Myelodysplasia	701	BUB1B	ORPHA:1052
HP:0002863	Myelodysplasia	51428	DDX41	OMIM:616871
HP:0002863	Myelodysplasia	10019	SH2B3	ORPHA:3318
HP:0002863	Myelodysplasia	811	CALR	ORPHA:3318
HP:0002863	Myelodysplasia	4763	NF1	ORPHA:97685
HP:0002863	Myelodysplasia	10456	HAX1	OMIM:610738
HP:0002863	Myelodysplasia	64682	ANAPC1	ORPHA:221008
HP:0002863	Myelodysplasia	2065	ERBB3	OMIM:133180
HP:0002863	Myelodysplasia	150274	HSCB	OMIM:619523
HP:0002863	Myelodysplasia	3313	HSPA9	OMIM:182170
HP:0002864	Paraganglioma of head and neck	7428	VHL	ORPHA:29072
HP:0002864	Paraganglioma of head and neck	7428	VHL	ORPHA:276621
HP:0002864	Paraganglioma of head and neck	1743	DLST	ORPHA:29072
HP:0002864	Paraganglioma of head and neck	4191	MDH2	ORPHA:29072
HP:0002864	Paraganglioma of head and neck	5979	RET	ORPHA:29072
HP:0002864	Paraganglioma of head and neck	5979	RET	ORPHA:276621
HP:0002864	Paraganglioma of head and neck	6389	SDHA	ORPHA:29072
HP:0002864	Paraganglioma of head and neck	23095	KIF1B	ORPHA:29072
HP:0002864	Paraganglioma of head and neck	2271	FH	ORPHA:29072
HP:0002864	Paraganglioma of head and neck	8402	SLC25A11	ORPHA:29072
HP:0002864	Paraganglioma of head and neck	54949	SDHAF2	ORPHA:29072
HP:0002864	Paraganglioma of head and neck	55654	TMEM127	ORPHA:29072
HP:0002864	Paraganglioma of head and neck	4763	NF1	ORPHA:29072
HP:0002864	Paraganglioma of head and neck	6391	SDHC	ORPHA:29072
HP:0002864	Paraganglioma of head and neck	6392	SDHD	ORPHA:29072
HP:0002864	Paraganglioma of head and neck	6392	SDHD	OMIM:168000
HP:0002864	Paraganglioma of head and neck	6392	SDHD	ORPHA:276621
HP:0002864	Paraganglioma of head and neck	6390	SDHB	ORPHA:29072
HP:0002864	Paraganglioma of head and neck	6390	SDHB	ORPHA:276621
HP:0002864	Paraganglioma of head and neck	6390	SDHB	OMIM:115310
HP:0002864	Paraganglioma of head and neck	4149	MAX	ORPHA:29072
HP:0002864	Paraganglioma of head and neck	1788	DNMT3A	ORPHA:276621
HP:0002864	Paraganglioma of head and neck	2034	EPAS1	ORPHA:276621
HP:0002865	Medullary thyroid carcinoma	56980	PRDM10	ORPHA:122
HP:0002865	Medullary thyroid carcinoma	201163	FLCN	ORPHA:122
HP:0002865	Medullary thyroid carcinoma	5979	RET	OMIM:162300
HP:0002865	Medullary thyroid carcinoma	5979	RET	OMIM:155240
HP:0002865	Medullary thyroid carcinoma	5979	RET	OMIM:171400
HP:0002865	Medullary thyroid carcinoma	4763	NF1	OMIM:162200
HP:0002867	Abnormal ilium morphology	2261	FGFR3	OMIM:187601
HP:0002867	Abnormal ilium morphology	2261	FGFR3	OMIM:187600
HP:0002867	Abnormal ilium morphology	2261	FGFR3	ORPHA:1860
HP:0002867	Abnormal ilium morphology	1301	COL11A1	OMIM:154780
HP:0002867	Abnormal ilium morphology	126792	B3GALT6	ORPHA:536467
HP:0002867	Abnormal ilium morphology	126792	B3GALT6	OMIM:615349
HP:0002867	Abnormal ilium morphology	1836	SLC26A2	OMIM:600972
HP:0002867	Abnormal ilium morphology	28981	IFT81	OMIM:617895
HP:0002867	Abnormal ilium morphology	579	NKX3-2	OMIM:613330
HP:0002867	Abnormal ilium morphology	100151683	RNU4ATAC	OMIM:210710
HP:0002867	Abnormal ilium morphology	1302	COL11A2	OMIM:614524
HP:0002867	Abnormal ilium morphology	3636	INPPL1	ORPHA:3144
HP:0002867	Abnormal ilium morphology	23169	SLC35D1	ORPHA:3144
HP:0002867	Abnormal ilium morphology	11128	POLR3A	OMIM:264090
HP:0002867	Abnormal ilium morphology	11128	POLR3A	ORPHA:3455
HP:0002867	Abnormal ilium morphology	6913	TBX15	ORPHA:93333
HP:0002867	Abnormal ilium morphology	3339	HSPG2	ORPHA:1865
HP:0002867	Abnormal ilium morphology	6223	RPS19	OMIM:105650
HP:0002867	Abnormal ilium morphology	5130	PCYT1A	ORPHA:85167
HP:0002867	Abnormal ilium morphology	23522	KAT6B	ORPHA:85201
HP:0002867	Abnormal ilium morphology	91147	TMEM67	ORPHA:140976
HP:0002867	Abnormal ilium morphology	6023	RMRP	OMIM:607095
HP:0002867	Abnormal ilium morphology	388015	RTL1	ORPHA:96334
HP:0002867	Abnormal ilium morphology	8788	DLK1	ORPHA:96334
HP:0002867	Abnormal ilium morphology	55384	MEG3	ORPHA:96334
HP:0002867	Abnormal ilium morphology	2316	FLNA	OMIM:304120
HP:0002867	Abnormal ilium morphology	54	ACP5	ORPHA:1855
HP:0002867	Abnormal ilium morphology	54808	DYM	ORPHA:239
HP:0002867	Abnormal ilium morphology	2074	ERCC6	OMIM:133540
HP:0002867	Abnormal ilium morphology	132884	EVC2	OMIM:225500
HP:0002867	Abnormal ilium morphology	2121	EVC	OMIM:225500
HP:0002867	Abnormal ilium morphology	7476	WNT7A	OMIM:228930
HP:0002867	Abnormal ilium morphology	2033	EP300	OMIM:180849
HP:0002867	Abnormal ilium morphology	1387	CREBBP	OMIM:180849
HP:0002867	Abnormal ilium morphology	2335	FN1	ORPHA:93315
HP:0002867	Abnormal ilium morphology	5116	PCNT	ORPHA:2637
HP:0002867	Abnormal ilium morphology	5116	PCNT	OMIM:210720
HP:0002867	Abnormal ilium morphology	10013	HDAC6	ORPHA:163966
HP:0002867	Abnormal ilium morphology	10013	HDAC6	OMIM:300863
HP:0002867	Abnormal ilium morphology	2146	EZH2	OMIM:277590
HP:0002867	Abnormal ilium morphology	147372	CCBE1	OMIM:235510
HP:0002867	Abnormal ilium morphology	411	ARSB	OMIM:253200
HP:0002867	Abnormal ilium morphology	1513	CTSK	ORPHA:763
HP:0002867	Abnormal ilium morphology	3549	IHH	OMIM:607778
HP:0002867	Abnormal ilium morphology	8726	EED	OMIM:617561
HP:0002867	Abnormal ilium morphology	860	RUNX2	OMIM:119600
HP:0002867	Abnormal ilium morphology	4089	SMAD4	OMIM:139210
HP:0002867	Abnormal ilium morphology	26175	LYSET	OMIM:619345
HP:0002867	Abnormal ilium morphology	54101	RIPK4	OMIM:263650
HP:0002867	Abnormal ilium morphology	1297	COL9A1	OMIM:614134
HP:0002867	Abnormal ilium morphology	6399	TRAPPC2	OMIM:313400
HP:0002867	Abnormal ilium morphology	6662	SOX9	OMIM:114290
HP:0002867	Abnormal ilium morphology	1161	ERCC8	OMIM:216400
HP:0002867	Abnormal ilium morphology	3911	LAMA5	OMIM:620076
HP:0002867	Abnormal ilium morphology	8838	CCN6	ORPHA:1159
HP:0002867	Abnormal ilium morphology	2137	EXTL3	ORPHA:508533
HP:0002867	Abnormal ilium morphology	1280	COL2A1	ORPHA:93316
HP:0002867	Abnormal ilium morphology	23556	PIGN	OMIM:614080
HP:0002867	Abnormal ilium morphology	59341	TRPV4	ORPHA:93314
HP:0002867	Abnormal ilium morphology	6197	RPS6KA3	OMIM:303600
HP:0002867	Abnormal ilium morphology	6197	RPS6KA3	ORPHA:192
HP:0002867	Abnormal ilium morphology	26137	ZBTB20	OMIM:259050
HP:0002867	Abnormal ilium morphology	26137	ZBTB20	ORPHA:3042
HP:0002867	Abnormal ilium morphology	10484	SEC23A	OMIM:607812
HP:0002867	Abnormal ilium morphology	9871	SEC24D	OMIM:616294
HP:0002867	Abnormal ilium morphology	9451	EIF2AK3	OMIM:226980
HP:0002867	Abnormal ilium morphology	54187	NANS	OMIM:610442
HP:0002867	Abnormal ilium morphology	5830	PEX5	OMIM:616716
HP:0002867	Abnormal ilium morphology	4921	DDR2	OMIM:271665
HP:0002867	Abnormal ilium morphology	4322	MMP13	OMIM:602111
HP:0002867	Abnormal ilium morphology	84572	GNPTG	OMIM:252605
HP:0002867	Abnormal ilium morphology	9131	AIFM1	OMIM:300232
HP:0002867	Abnormal ilium morphology	5251	PHEX	ORPHA:89936
HP:0002867	Abnormal ilium morphology	633	BGN	OMIM:300106
HP:0002867	Abnormal ilium morphology	9321	TRIP11	OMIM:184260
HP:0002867	Abnormal ilium morphology	51715	RAB23	OMIM:201000
HP:0002867	Abnormal ilium morphology	2720	GLB1	OMIM:230650
HP:0002867	Abnormal ilium morphology	2720	GLB1	ORPHA:79255
HP:0002867	Abnormal ilium morphology	65082	VPS33A	OMIM:617303
HP:0002867	Abnormal ilium morphology	2719	GPC3	OMIM:312870
HP:0002867	Abnormal ilium morphology	2239	GPC4	OMIM:312870
HP:0002867	Abnormal ilium morphology	3425	IDUA	OMIM:607014
HP:0002867	Abnormal ilium morphology	79158	GNPTAB	OMIM:252500
HP:0002867	Abnormal ilium morphology	4148	MATN3	OMIM:608728
HP:0002867	Abnormal ilium morphology	9361	LONP1	OMIM:600373
HP:0002867	Abnormal ilium morphology	5331	PLCB3	OMIM:618961
HP:0002867	Abnormal ilium morphology	153241	CEP120	OMIM:616300
HP:0002867	Abnormal ilium morphology	165	AEBP1	OMIM:618000
HP:0002867	Abnormal ilium morphology	51025	PAM16	OMIM:613320
HP:0002867	Abnormal ilium morphology	25871	NEPRO	OMIM:618853
HP:0002867	Abnormal ilium morphology	9382	COG1	OMIM:611209
HP:0002867	Abnormal ilium morphology	5745	PTH1R	OMIM:215045
HP:0002867	Abnormal ilium morphology	2588	GALNS	OMIM:253000
HP:0002867	Abnormal ilium morphology	3417	IDH1	ORPHA:99646
HP:0002867	Abnormal ilium morphology	2879	GPX4	ORPHA:93317
HP:0002867	Abnormal ilium morphology	2879	GPX4	OMIM:250220
HP:0002867	Abnormal ilium morphology	139285	AMER1	ORPHA:2780
HP:0002867	Abnormal ilium morphology	2990	GUSB	OMIM:253220
HP:0002867	Abnormal ilium morphology	538	ATP7A	ORPHA:198
HP:0002867	Abnormal ilium morphology	4125	MAN2B1	ORPHA:309282
HP:0002867	Abnormal ilium morphology	10940	POP1	OMIM:617396
HP:0002867	Abnormal ilium morphology	3977	LIFR	OMIM:601559
HP:0002867	Abnormal ilium morphology	2317	FLNB	OMIM:112310
HP:0002867	Abnormal ilium morphology	4010	LMX1B	ORPHA:2614
HP:0002867	Abnormal ilium morphology	4010	LMX1B	OMIM:161200
HP:0002867	Abnormal ilium morphology	81839	VANGL1	ORPHA:3027
HP:0002867	Abnormal ilium morphology	80199	FUZ	ORPHA:3027
HP:0002867	Abnormal ilium morphology	3106	HLA-B	ORPHA:29207
HP:0002867	Abnormal ilium morphology	3106	HLA-B	OMIM:106300
HP:0002867	Abnormal ilium morphology	9842	PLEKHM1	OMIM:611497
HP:0002867	Abnormal ilium morphology	117581	TWIST2	ORPHA:1807
HP:0002867	Abnormal ilium morphology	7132	TNFRSF1A	ORPHA:32960
HP:0002867	Abnormal ilium morphology	1758	DMP1	ORPHA:289176
HP:0002867	Abnormal ilium morphology	5167	ENPP1	ORPHA:289176
HP:0002867	Abnormal ilium morphology	57728	WDR19	OMIM:614376
HP:0002867	Abnormal ilium morphology	2778	GNAS	OMIM:174800
HP:0002868	Narrow iliac wing	6197	RPS6KA3	OMIM:303600
HP:0002868	Narrow iliac wing	6197	RPS6KA3	ORPHA:192
HP:0002868	Narrow iliac wing	26137	ZBTB20	OMIM:259050
HP:0002868	Narrow iliac wing	26137	ZBTB20	ORPHA:3042
HP:0002868	Narrow iliac wing	10484	SEC23A	OMIM:607812
HP:0002868	Narrow iliac wing	9871	SEC24D	OMIM:616294
HP:0002868	Narrow iliac wing	1513	CTSK	OMIM:265800
HP:0002868	Narrow iliac wing	9451	EIF2AK3	OMIM:226980
HP:0002868	Narrow iliac wing	1280	COL2A1	OMIM:609162
HP:0002868	Narrow iliac wing	54187	NANS	OMIM:610442
HP:0002868	Narrow iliac wing	6662	SOX9	OMIM:114290
HP:0002868	Narrow iliac wing	5830	PEX5	OMIM:616716
HP:0002869	Flared iliac wing	4921	DDR2	OMIM:271665
HP:0002869	Flared iliac wing	4322	MMP13	OMIM:602111
HP:0002869	Flared iliac wing	59341	TRPV4	OMIM:184252
HP:0002869	Flared iliac wing	59341	TRPV4	ORPHA:93314
HP:0002869	Flared iliac wing	59341	TRPV4	OMIM:156530
HP:0002869	Flared iliac wing	84572	GNPTG	OMIM:252605
HP:0002869	Flared iliac wing	9131	AIFM1	OMIM:300232
HP:0002869	Flared iliac wing	5251	PHEX	ORPHA:89936
HP:0002869	Flared iliac wing	3549	IHH	ORPHA:63446
HP:0002869	Flared iliac wing	3549	IHH	OMIM:607778
HP:0002869	Flared iliac wing	2033	EP300	OMIM:180849
HP:0002869	Flared iliac wing	1387	CREBBP	OMIM:180849
HP:0002869	Flared iliac wing	411	ARSB	OMIM:253200
HP:0002869	Flared iliac wing	633	BGN	OMIM:300106
HP:0002869	Flared iliac wing	9321	TRIP11	OMIM:184260
HP:0002869	Flared iliac wing	51715	RAB23	OMIM:201000
HP:0002869	Flared iliac wing	2720	GLB1	OMIM:230650
HP:0002869	Flared iliac wing	2720	GLB1	ORPHA:79255
HP:0002869	Flared iliac wing	65082	VPS33A	OMIM:617303
HP:0002869	Flared iliac wing	2719	GPC3	OMIM:312870
HP:0002869	Flared iliac wing	2239	GPC4	OMIM:312870
HP:0002869	Flared iliac wing	3425	IDUA	OMIM:607014
HP:0002869	Flared iliac wing	79158	GNPTAB	OMIM:252500
HP:0002869	Flared iliac wing	2316	FLNA	ORPHA:90652
HP:0002869	Flared iliac wing	2879	GPX4	OMIM:250220
HP:0002869	Flared iliac wing	126792	B3GALT6	OMIM:271640
HP:4000010	Impaired renal tubular reabsorption of bicarbonate	8671	SLC4A4	OMIM:604278
HP:4000019	Anti-BP230 antibody positivity	3119	HLA-DQB1	ORPHA:703
HP:4000019	Anti-BP230 antibody positivity	3123	HLA-DRB1	ORPHA:703
HP:0002870	Obstructive sleep apnea	58499	ZNF462	ORPHA:502430
HP:0002870	Obstructive sleep apnea	8367	H4C5	OMIM:619950
HP:0002870	Obstructive sleep apnea	57003	CCDC47	OMIM:618268
HP:0002870	Obstructive sleep apnea	1763	DNA2	OMIM:615156
HP:0002870	Obstructive sleep apnea	1763	DNA2	ORPHA:352470
HP:0002870	Obstructive sleep apnea	23126	POGZ	OMIM:616364
HP:0002870	Obstructive sleep apnea	23126	POGZ	ORPHA:468678
HP:0002870	Obstructive sleep apnea	51604	PIGT	ORPHA:369837
HP:0002870	Obstructive sleep apnea	2033	EP300	OMIM:180849
HP:0002870	Obstructive sleep apnea	2033	EP300	ORPHA:353284
HP:0002870	Obstructive sleep apnea	1387	CREBBP	OMIM:180849
HP:0002870	Obstructive sleep apnea	1387	CREBBP	ORPHA:353281
HP:0002870	Obstructive sleep apnea	1387	CREBBP	ORPHA:353277
HP:0002870	Obstructive sleep apnea	59341	TRPV4	OMIM:606071
HP:0002870	Obstructive sleep apnea	7015	TERT	OMIM:614742
HP:0002870	Obstructive sleep apnea	23314	SATB2	ORPHA:251028
HP:0002870	Obstructive sleep apnea	775	CACNA1C	OMIM:620029
HP:0002870	Obstructive sleep apnea	8087	FXR1	OMIM:618822
HP:0002870	Obstructive sleep apnea	8087	FXR1	OMIM:618823
HP:0002870	Obstructive sleep apnea	1756	DMD	OMIM:310200
HP:0002870	Obstructive sleep apnea	259232	NALCN	ORPHA:371364
HP:0002870	Obstructive sleep apnea	285175	UNC80	ORPHA:371364
HP:0002870	Obstructive sleep apnea	781	CACNA2D1	OMIM:620149
HP:0002870	Obstructive sleep apnea	7138	TNNT1	OMIM:620389
HP:0002870	Obstructive sleep apnea	84320	ACBD6	OMIM:620785
HP:0002870	Obstructive sleep apnea	4076	CAPRIN1	OMIM:620782
HP:0002870	Obstructive sleep apnea	6050	RNH1	OMIM:620461
HP:0002870	Obstructive sleep apnea	10128	LRPPRC	ORPHA:70472
HP:0002870	Obstructive sleep apnea	2887	GRB10	ORPHA:96182
HP:0002870	Obstructive sleep apnea	51611	DPH5	OMIM:620070
HP:0002870	Obstructive sleep apnea	5575	PRKAR1B	OMIM:619680
HP:0002870	Obstructive sleep apnea	6452	SH3BP2	ORPHA:184
HP:0002870	Obstructive sleep apnea	7314	UBB	ORPHA:101023
HP:0002870	Obstructive sleep apnea	57822	GRHL3	ORPHA:101023
HP:0002870	Obstructive sleep apnea	4854	NOTCH3	OMIM:130720
HP:0002870	Obstructive sleep apnea	7750	ZMYM2	OMIM:619522
HP:0002870	Obstructive sleep apnea	9578	CDC42BPB	OMIM:619841
HP:0002870	Obstructive sleep apnea	1855	DVL1	OMIM:616331
HP:0002870	Obstructive sleep apnea	283489	CHAMP1	OMIM:616579
HP:0002870	Obstructive sleep apnea	27245	AHDC1	ORPHA:412069
HP:0002870	Obstructive sleep apnea	27245	AHDC1	OMIM:615829
HP:0002870	Obstructive sleep apnea	6492	SIM1	ORPHA:398079
HP:0002870	Obstructive sleep apnea	60482	SLC5A7	ORPHA:98914
HP:0002870	Obstructive sleep apnea	4649	MYO9A	ORPHA:98914
HP:0002870	Obstructive sleep apnea	1305	COL13A1	ORPHA:98914
HP:0002870	Obstructive sleep apnea	1103	CHAT	ORPHA:98914
HP:0002870	Obstructive sleep apnea	6576	SLC25A1	ORPHA:98914
HP:0002870	Obstructive sleep apnea	6843	VAMP1	ORPHA:98914
HP:0002870	Obstructive sleep apnea	375790	AGRN	ORPHA:98914
HP:0002870	Obstructive sleep apnea	127833	SYT2	ORPHA:98914
HP:0002870	Obstructive sleep apnea	6572	SLC18A3	ORPHA:98914
HP:0002870	Obstructive sleep apnea	6616	SNAP25	ORPHA:98914
HP:0002870	Obstructive sleep apnea	150	ADRA2A	OMIM:620679
HP:0002870	Obstructive sleep apnea	55768	NGLY1	ORPHA:404454
HP:0002870	Obstructive sleep apnea	6638	SNRPN	ORPHA:98754
HP:0002870	Obstructive sleep apnea	6638	SNRPN	ORPHA:177904
HP:0002870	Obstructive sleep apnea	6638	SNRPN	ORPHA:177901
HP:0002870	Obstructive sleep apnea	4692	NDN	ORPHA:98754
HP:0002870	Obstructive sleep apnea	4692	NDN	ORPHA:177904
HP:0002870	Obstructive sleep apnea	4692	NDN	ORPHA:177901
HP:0002870	Obstructive sleep apnea	54551	MAGEL2	ORPHA:98754
HP:0002870	Obstructive sleep apnea	54551	MAGEL2	ORPHA:177904
HP:0002870	Obstructive sleep apnea	54551	MAGEL2	ORPHA:177901
HP:0002870	Obstructive sleep apnea	54551	MAGEL2	ORPHA:398069
HP:0002870	Obstructive sleep apnea	4948	OCA2	ORPHA:98754
HP:0002870	Obstructive sleep apnea	4948	OCA2	ORPHA:177904
HP:0002870	Obstructive sleep apnea	4948	OCA2	ORPHA:177901
HP:0002870	Obstructive sleep apnea	79158	GNPTAB	ORPHA:576
HP:0002870	Obstructive sleep apnea	23299	BICD2	OMIM:615290
HP:0002870	Obstructive sleep apnea	6497	SKI	OMIM:182212
HP:0002870	Obstructive sleep apnea	4841	NONO	ORPHA:466791
HP:0002870	Obstructive sleep apnea	4784	NFIX	OMIM:602535
HP:0002870	Obstructive sleep apnea	8888	MCM3AP	OMIM:618124
HP:0002870	Obstructive sleep apnea	112939	NACC1	OMIM:617393
HP:0002870	Obstructive sleep apnea	3423	IDS	OMIM:309900
HP:0002870	Obstructive sleep apnea	650	BMP2	OMIM:617877
HP:0002870	Obstructive sleep apnea	57479	PRR12	OMIM:619539
HP:0002870	Obstructive sleep apnea	2990	GUSB	OMIM:253220
HP:0002870	Obstructive sleep apnea	23219	FBXO28	OMIM:619777
HP:0002870	Obstructive sleep apnea	3183	HNRNPC	OMIM:620688
HP:0002870	Obstructive sleep apnea	7555	CNBP	ORPHA:606
HP:0002870	Obstructive sleep apnea	1513	CTSK	ORPHA:763
HP:0002870	Obstructive sleep apnea	2261	FGFR3	ORPHA:15
HP:0002870	Obstructive sleep apnea	7703	PCGF2	OMIM:618371
HP:0002870	Obstructive sleep apnea	9401	RECQL4	OMIM:218600
HP:0002870	Obstructive sleep apnea	171023	ASXL1	ORPHA:97297
HP:0002870	Obstructive sleep apnea	4340	MOG	OMIM:614250
HP:0002870	Obstructive sleep apnea	372	ARCN1	OMIM:617164
HP:0002870	Obstructive sleep apnea	2902	GRIN1	OMIM:614254
HP:0002870	Obstructive sleep apnea	1822	ATN1	OMIM:618494
HP:0002870	Obstructive sleep apnea	7543	ZFX	OMIM:301118
HP:0002870	Obstructive sleep apnea	7046	TGFBR1	OMIM:609192
HP:0002870	Obstructive sleep apnea	1642	DDB1	OMIM:619426
HP:0002870	Obstructive sleep apnea	55770	EXOC2	OMIM:619306
HP:0002870	Obstructive sleep apnea	1906	EDN1	ORPHA:137888
HP:0002870	Obstructive sleep apnea	5332	PLCB4	ORPHA:137888
HP:0002870	Obstructive sleep apnea	2773	GNAI3	ORPHA:137888
HP:0002870	Obstructive sleep apnea	9230	RAB11B	OMIM:617807
HP:0002870	Obstructive sleep apnea	3265	HRAS	OMIM:218040
HP:0002870	Obstructive sleep apnea	3425	IDUA	OMIM:607016
HP:0002870	Obstructive sleep apnea	3425	IDUA	OMIM:607015
HP:0002870	Obstructive sleep apnea	78987	CRELD1	OMIM:620771
HP:0002870	Obstructive sleep apnea	760	CA2	ORPHA:2785
HP:0002871	Central apnea	6638	SNRPN	ORPHA:177904
HP:0002871	Central apnea	6638	SNRPN	ORPHA:177901
HP:0002871	Central apnea	6638	SNRPN	ORPHA:98754
HP:0002871	Central apnea	4692	NDN	ORPHA:177904
HP:0002871	Central apnea	4692	NDN	ORPHA:177901
HP:0002871	Central apnea	4692	NDN	ORPHA:98754
HP:0002871	Central apnea	54551	MAGEL2	ORPHA:177904
HP:0002871	Central apnea	54551	MAGEL2	ORPHA:177901
HP:0002871	Central apnea	54551	MAGEL2	ORPHA:98754
HP:0002871	Central apnea	4948	OCA2	ORPHA:177904
HP:0002871	Central apnea	4948	OCA2	ORPHA:177901
HP:0002871	Central apnea	4948	OCA2	ORPHA:98754
HP:0002871	Central apnea	9895	TECPR2	ORPHA:320385
HP:0002871	Central apnea	9895	TECPR2	OMIM:615031
HP:0002871	Central apnea	2261	FGFR3	OMIM:616482
HP:0002871	Central apnea	2260	FGFR1	ORPHA:220386
HP:0002871	Central apnea	2260	FGFR1	ORPHA:93924
HP:0002871	Central apnea	28514	DLL1	ORPHA:220386
HP:0002871	Central apnea	28514	DLL1	ORPHA:93926
HP:0002871	Central apnea	28514	DLL1	ORPHA:93924
HP:0002871	Central apnea	28514	DLL1	ORPHA:93925
HP:0002871	Central apnea	10735	STAG2	ORPHA:220386
HP:0002871	Central apnea	10735	STAG2	ORPHA:93925
HP:0002871	Central apnea	2253	FGF8	ORPHA:220386
HP:0002871	Central apnea	2253	FGF8	ORPHA:93926
HP:0002871	Central apnea	2253	FGF8	ORPHA:93924
HP:0002871	Central apnea	2253	FGF8	ORPHA:93925
HP:0002871	Central apnea	8243	SMC1A	ORPHA:220386
HP:0002871	Central apnea	6496	SIX3	ORPHA:220386
HP:0002871	Central apnea	6496	SIX3	ORPHA:93926
HP:0002871	Central apnea	6496	SIX3	ORPHA:93924
HP:0002871	Central apnea	6496	SIX3	ORPHA:93925
HP:0002871	Central apnea	7050	TGIF1	ORPHA:220386
HP:0002871	Central apnea	7050	TGIF1	ORPHA:93926
HP:0002871	Central apnea	7050	TGIF1	ORPHA:93924
HP:0002871	Central apnea	7050	TGIF1	ORPHA:93925
HP:0002871	Central apnea	4838	NODAL	ORPHA:220386
HP:0002871	Central apnea	4838	NODAL	ORPHA:93926
HP:0002871	Central apnea	4838	NODAL	ORPHA:93924
HP:0002871	Central apnea	4838	NODAL	ORPHA:93925
HP:0002871	Central apnea	6469	SHH	ORPHA:220386
HP:0002871	Central apnea	6469	SHH	ORPHA:93926
HP:0002871	Central apnea	6469	SHH	ORPHA:93924
HP:0002871	Central apnea	6469	SHH	ORPHA:93925
HP:0002871	Central apnea	7546	ZIC2	ORPHA:220386
HP:0002871	Central apnea	7546	ZIC2	ORPHA:93926
HP:0002871	Central apnea	7546	ZIC2	ORPHA:93924
HP:0002871	Central apnea	7546	ZIC2	ORPHA:93925
HP:0002871	Central apnea	6491	STIL	ORPHA:220386
HP:0002871	Central apnea	6491	STIL	ORPHA:93926
HP:0002871	Central apnea	6491	STIL	ORPHA:93924
HP:0002871	Central apnea	6491	STIL	ORPHA:93925
HP:0002871	Central apnea	2619	GAS1	ORPHA:220386
HP:0002871	Central apnea	2619	GAS1	ORPHA:93926
HP:0002871	Central apnea	2619	GAS1	ORPHA:93924
HP:0002871	Central apnea	2619	GAS1	ORPHA:93925
HP:0002871	Central apnea	84976	DISP1	ORPHA:220386
HP:0002871	Central apnea	84976	DISP1	ORPHA:93926
HP:0002871	Central apnea	84976	DISP1	ORPHA:93924
HP:0002871	Central apnea	84976	DISP1	ORPHA:93925
HP:0002871	Central apnea	2736	GLI2	ORPHA:220386
HP:0002871	Central apnea	2736	GLI2	ORPHA:93926
HP:0002871	Central apnea	2736	GLI2	ORPHA:93924
HP:0002871	Central apnea	2736	GLI2	ORPHA:93925
HP:0002871	Central apnea	8928	FOXH1	ORPHA:220386
HP:0002871	Central apnea	8928	FOXH1	ORPHA:93926
HP:0002871	Central apnea	8928	FOXH1	ORPHA:93924
HP:0002871	Central apnea	8928	FOXH1	ORPHA:93925
HP:0002871	Central apnea	6997	CRIPTO	ORPHA:220386
HP:0002871	Central apnea	6997	CRIPTO	ORPHA:93926
HP:0002871	Central apnea	6997	CRIPTO	ORPHA:93924
HP:0002871	Central apnea	6997	CRIPTO	ORPHA:93925
HP:0002871	Central apnea	5727	PTCH1	ORPHA:220386
HP:0002871	Central apnea	5727	PTCH1	ORPHA:93926
HP:0002871	Central apnea	5727	PTCH1	ORPHA:93924
HP:0002871	Central apnea	5727	PTCH1	ORPHA:93925
HP:0002871	Central apnea	50937	CDON	ORPHA:220386
HP:0002871	Central apnea	50937	CDON	ORPHA:93926
HP:0002871	Central apnea	50937	CDON	ORPHA:93924
HP:0002871	Central apnea	50937	CDON	ORPHA:93925
HP:0002871	Central apnea	54902	TTC19	OMIM:615157
HP:0002871	Central apnea	80184	CEP290	OMIM:610188
HP:0002871	Central apnea	51259	TMEM216	OMIM:608091
HP:0002871	Central apnea	56623	INPP5E	OMIM:213300
HP:0002871	Central apnea	493856	CISD2	ORPHA:3463
HP:0002871	Central apnea	7466	WFS1	ORPHA:3463
HP:0002871	Central apnea	415	ARSL	ORPHA:79345
HP:0002871	Central apnea	23299	BICD2	OMIM:618291
HP:0002871	Central apnea	54806	AHI1	OMIM:608629
HP:0002871	Central apnea	283989	TSEN54	ORPHA:166063
HP:0002871	Central apnea	6857	SYT1	ORPHA:522077
HP:0002871	Central apnea	23322	RPGRIP1L	OMIM:611560
HP:0002871	Central apnea	478	ATP1A3	OMIM:619606
HP:0002871	Central apnea	23007	PLCH1	ORPHA:93925
HP:0002871	Central apnea	4929	NR4A2	ORPHA:1617
HP:0002871	Central apnea	10716	TBR1	ORPHA:1617
HP:0002871	Central apnea	5660	PSAP	OMIM:611722
HP:0002871	Central apnea	26834	RNU4-2	OMIM:620851
HP:0002871	Central apnea	6513	SLC2A1	ORPHA:71277
HP:0002872	Apneic episodes precipitated by illness, fatigue, stress	1103	CHAT	OMIM:254210
HP:0002872	Apneic episodes precipitated by illness, fatigue, stress	1103	CHAT	ORPHA:98914
HP:0002872	Apneic episodes precipitated by illness, fatigue, stress	60482	SLC5A7	ORPHA:98914
HP:0002872	Apneic episodes precipitated by illness, fatigue, stress	4649	MYO9A	ORPHA:98914
HP:0002872	Apneic episodes precipitated by illness, fatigue, stress	1305	COL13A1	ORPHA:98914
HP:0002872	Apneic episodes precipitated by illness, fatigue, stress	6576	SLC25A1	ORPHA:98914
HP:0002872	Apneic episodes precipitated by illness, fatigue, stress	6843	VAMP1	ORPHA:98914
HP:0002872	Apneic episodes precipitated by illness, fatigue, stress	375790	AGRN	ORPHA:98914
HP:0002872	Apneic episodes precipitated by illness, fatigue, stress	127833	SYT2	ORPHA:98914
HP:0002872	Apneic episodes precipitated by illness, fatigue, stress	6572	SLC18A3	ORPHA:98914
HP:0002872	Apneic episodes precipitated by illness, fatigue, stress	6616	SNAP25	ORPHA:98914
HP:0002872	Apneic episodes precipitated by illness, fatigue, stress	1145	CHRNE	OMIM:605809
HP:0002872	Apneic episodes precipitated by illness, fatigue, stress	5160	PDHA1	OMIM:312170
HP:0002875	Exertional dyspnea	10019	SH2B3	OMIM:133100
HP:0002875	Exertional dyspnea	3717	JAK2	OMIM:133100
HP:0002875	Exertional dyspnea	2057	EPOR	OMIM:133100
HP:0002875	Exertional dyspnea	2057	EPOR	ORPHA:90042
HP:0002875	Exertional dyspnea	291	SLC25A4	ORPHA:254892
HP:0002875	Exertional dyspnea	5428	POLG	ORPHA:254892
HP:0002875	Exertional dyspnea	56652	TWNK	ORPHA:254892
HP:0002875	Exertional dyspnea	11232	POLG2	ORPHA:254892
HP:0002875	Exertional dyspnea	50484	RRM2B	ORPHA:254892
HP:0002875	Exertional dyspnea	7092	TLL1	ORPHA:99103
HP:0002875	Exertional dyspnea	7092	TLL1	ORPHA:99106
HP:0002875	Exertional dyspnea	57057	TBX20	ORPHA:99103
HP:0002875	Exertional dyspnea	4624	MYH6	ORPHA:99103
HP:0002875	Exertional dyspnea	4624	MYH6	ORPHA:154
HP:0002875	Exertional dyspnea	1482	NKX2-5	ORPHA:99103
HP:0002875	Exertional dyspnea	70	ACTC1	ORPHA:99103
HP:0002875	Exertional dyspnea	70	ACTC1	ORPHA:154
HP:0002875	Exertional dyspnea	10370	CITED2	ORPHA:99103
HP:0002875	Exertional dyspnea	10370	CITED2	ORPHA:99105
HP:0002875	Exertional dyspnea	2626	GATA4	ORPHA:99103
HP:0002875	Exertional dyspnea	2627	GATA6	ORPHA:99103
HP:0002875	Exertional dyspnea	6389	SDHA	ORPHA:154
HP:0002875	Exertional dyspnea	10486	CAP2	ORPHA:154
HP:0002875	Exertional dyspnea	7716	VEZF1	ORPHA:154
HP:0002875	Exertional dyspnea	10060	ABCC9	ORPHA:154
HP:0002875	Exertional dyspnea	7168	TPM1	ORPHA:154
HP:0002875	Exertional dyspnea	27063	ANKRD1	ORPHA:154
HP:0002875	Exertional dyspnea	1410	CRYAB	ORPHA:154
HP:0002875	Exertional dyspnea	439	GET3	ORPHA:154
HP:0002875	Exertional dyspnea	7273	TTN	ORPHA:154
HP:0002875	Exertional dyspnea	5350	PLN	ORPHA:154
HP:0002875	Exertional dyspnea	5664	PSEN2	ORPHA:154
HP:0002875	Exertional dyspnea	9529	BAG5	ORPHA:154
HP:0002875	Exertional dyspnea	4607	MYBPC3	ORPHA:154
HP:0002875	Exertional dyspnea	11155	LDB3	ORPHA:154
HP:0002875	Exertional dyspnea	2274	FHL2	ORPHA:154
HP:0002875	Exertional dyspnea	1756	DMD	ORPHA:154
HP:0002875	Exertional dyspnea	84665	MYPN	ORPHA:154
HP:0002875	Exertional dyspnea	1674	DES	ORPHA:154
HP:0002875	Exertional dyspnea	442721	LMOD2	ORPHA:154
HP:0002875	Exertional dyspnea	8557	TCAP	ORPHA:154
HP:0002875	Exertional dyspnea	57158	JPH2	ORPHA:154
HP:0002875	Exertional dyspnea	9015	TAF1A	ORPHA:154
HP:0002875	Exertional dyspnea	5663	PSEN1	ORPHA:154
HP:0002875	Exertional dyspnea	7112	TMPO	ORPHA:154
HP:0002875	Exertional dyspnea	9464	HAND2	ORPHA:154
HP:0002875	Exertional dyspnea	4625	MYH7	ORPHA:154
HP:0002875	Exertional dyspnea	4625	MYH7	OMIM:255160
HP:0002875	Exertional dyspnea	88	ACTN2	ORPHA:154
HP:0002875	Exertional dyspnea	7414	VCL	ORPHA:154
HP:0002875	Exertional dyspnea	7414	VCL	OMIM:613255
HP:0002875	Exertional dyspnea	1832	DSP	ORPHA:154
HP:0002875	Exertional dyspnea	1832	DSP	ORPHA:2032
HP:0002875	Exertional dyspnea	6123	RPL3L	ORPHA:154
HP:0002875	Exertional dyspnea	8048	CSRP3	ORPHA:154
HP:0002875	Exertional dyspnea	4000	LMNA	ORPHA:154
HP:0002875	Exertional dyspnea	4000	LMNA	OMIM:181350
HP:0002875	Exertional dyspnea	4000	LMNA	ORPHA:740
HP:0002875	Exertional dyspnea	7139	TNNT2	ORPHA:154
HP:0002875	Exertional dyspnea	1829	DSG2	ORPHA:154
HP:0002875	Exertional dyspnea	3910	LAMA4	ORPHA:154
HP:0002875	Exertional dyspnea	63976	PRDM16	ORPHA:154
HP:0002875	Exertional dyspnea	10587	TXNRD2	ORPHA:154
HP:0002875	Exertional dyspnea	9531	BAG3	ORPHA:154
HP:0002875	Exertional dyspnea	91624	NEXN	ORPHA:154
HP:0002875	Exertional dyspnea	79717	PPCS	ORPHA:154
HP:0002875	Exertional dyspnea	282996	RBM20	ORPHA:154
HP:0002875	Exertional dyspnea	7137	TNNI3	ORPHA:154
HP:0002875	Exertional dyspnea	6901	TAFAZZIN	ORPHA:154
HP:0002875	Exertional dyspnea	22845	DOLK	ORPHA:154
HP:0002875	Exertional dyspnea	5894	RAF1	ORPHA:154
HP:0002875	Exertional dyspnea	57798	GATAD1	ORPHA:154
HP:0002875	Exertional dyspnea	7134	TNNC1	ORPHA:154
HP:0002875	Exertional dyspnea	7134	TNNC1	OMIM:613243
HP:0002875	Exertional dyspnea	6444	SGCD	ORPHA:154
HP:0002875	Exertional dyspnea	6331	SCN5A	ORPHA:154
HP:0002875	Exertional dyspnea	2218	FKTN	ORPHA:154
HP:0002875	Exertional dyspnea	1727	CYB5R3	OMIM:250800
HP:0002875	Exertional dyspnea	1727	CYB5R3	ORPHA:621
HP:0002875	Exertional dyspnea	4574	MT-TS1	OMIM:220110
HP:0002875	Exertional dyspnea	4570	MT-TN	OMIM:220110
HP:0002875	Exertional dyspnea	6834	SURF1	OMIM:220110
HP:0002875	Exertional dyspnea	1763	DNA2	OMIM:615156
HP:0002875	Exertional dyspnea	1763	DNA2	ORPHA:352470
HP:0002875	Exertional dyspnea	84334	COA8	ORPHA:436271
HP:0002875	Exertional dyspnea	4629	MYH11	ORPHA:229
HP:0002875	Exertional dyspnea	4629	MYH11	ORPHA:91387
HP:0002875	Exertional dyspnea	63895	PIEZO2	OMIM:108145
HP:0002875	Exertional dyspnea	1528	CYB5A	ORPHA:621
HP:0002875	Exertional dyspnea	5339	PLEC	ORPHA:254361
HP:0002875	Exertional dyspnea	10269	ZMPSTE24	ORPHA:740
HP:0002875	Exertional dyspnea	727897	MUC5B	OMIM:178500
HP:0002875	Exertional dyspnea	727897	MUC5B	ORPHA:2032
HP:0002875	Exertional dyspnea	6440	SFTPC	OMIM:178500
HP:0002875	Exertional dyspnea	6440	SFTPC	ORPHA:2032
HP:0002875	Exertional dyspnea	729238	SFTPA2	OMIM:178500
HP:0002875	Exertional dyspnea	729238	SFTPA2	ORPHA:2032
HP:0002875	Exertional dyspnea	7015	TERT	OMIM:178500
HP:0002875	Exertional dyspnea	7015	TERT	ORPHA:2032
HP:0002875	Exertional dyspnea	57570	TRMT5	OMIM:616539
HP:0002875	Exertional dyspnea	8292	COLQ	ORPHA:98915
HP:0002875	Exertional dyspnea	3913	LAMB2	ORPHA:98915
HP:0002875	Exertional dyspnea	5573	PRKAR1A	ORPHA:615
HP:0002875	Exertional dyspnea	5573	PRKAR1A	ORPHA:520
HP:0002875	Exertional dyspnea	10551	AGR2	OMIM:620233
HP:0002875	Exertional dyspnea	6329	SCN4A	ORPHA:98913
HP:0002875	Exertional dyspnea	1134	CHRNA1	ORPHA:98913
HP:0002875	Exertional dyspnea	4038	LRP4	ORPHA:98913
HP:0002875	Exertional dyspnea	1305	COL13A1	ORPHA:98913
HP:0002875	Exertional dyspnea	1140	CHRNB1	ORPHA:98913
HP:0002875	Exertional dyspnea	1144	CHRND	ORPHA:98913
HP:0002875	Exertional dyspnea	1145	CHRNE	ORPHA:98913
HP:0002875	Exertional dyspnea	4593	MUSK	ORPHA:98913
HP:0002875	Exertional dyspnea	5913	RAPSN	ORPHA:98913
HP:0002875	Exertional dyspnea	375790	AGRN	ORPHA:98913
HP:0002875	Exertional dyspnea	221264	AK9	ORPHA:98913
HP:0002875	Exertional dyspnea	285489	DOK7	ORPHA:98913
HP:0002875	Exertional dyspnea	2022	ENG	OMIM:187300
HP:0002875	Exertional dyspnea	34	ACADM	ORPHA:42
HP:0002875	Exertional dyspnea	79572	ATP13A3	OMIM:265400
HP:0002875	Exertional dyspnea	79991	STN1	ORPHA:2032
HP:0002875	Exertional dyspnea	653509	SFTPA1	ORPHA:2032
HP:0002875	Exertional dyspnea	21	ABCA3	ORPHA:2032
HP:0002875	Exertional dyspnea	21	ABCA3	OMIM:610921
HP:0002875	Exertional dyspnea	10144	FAM13A	ORPHA:2032
HP:0002875	Exertional dyspnea	23250	ATP11A	ORPHA:2032
HP:0002875	Exertional dyspnea	91039	DPP9	ORPHA:2032
HP:0002875	Exertional dyspnea	51750	RTEL1	ORPHA:2032
HP:0002875	Exertional dyspnea	7012	TERC	ORPHA:2032
HP:0002875	Exertional dyspnea	5073	PARN	ORPHA:2032
HP:0002875	Exertional dyspnea	4634	MYL3	OMIM:608751
HP:0002875	Exertional dyspnea	5837	PYGM	ORPHA:368
HP:0002875	Exertional dyspnea	6774	STAT3	ORPHA:520
HP:0002875	Exertional dyspnea	5371	PML	ORPHA:520
HP:0002875	Exertional dyspnea	5914	RARA	ORPHA:520
HP:0002875	Exertional dyspnea	359948	IRF2BP2	ORPHA:520
HP:0002875	Exertional dyspnea	81608	FIP1L1	ORPHA:520
HP:0002875	Exertional dyspnea	4869	NPM1	ORPHA:520
HP:0002875	Exertional dyspnea	54880	BCOR	ORPHA:520
HP:0002875	Exertional dyspnea	64859	NABP1	ORPHA:520
HP:0002875	Exertional dyspnea	6777	STAT5B	ORPHA:520
HP:0002875	Exertional dyspnea	4926	NUMA1	ORPHA:520
HP:0002875	Exertional dyspnea	7704	ZBTB16	ORPHA:520
HP:0002875	Exertional dyspnea	79718	TBL1XR1	ORPHA:520
HP:0002875	Exertional dyspnea	440275	EIF2AK4	ORPHA:199241
HP:0002875	Exertional dyspnea	1439	CSF2RB	OMIM:614370
HP:0002875	Exertional dyspnea	2992	GYG1	ORPHA:263297
HP:0002875	Exertional dyspnea	10568	SLC34A2	ORPHA:60025
HP:0002875	Exertional dyspnea	4703	NEB	ORPHA:399103
HP:0002875	Exertional dyspnea	7046	TGFBR1	ORPHA:91387
HP:0002875	Exertional dyspnea	7048	TGFBR2	ORPHA:91387
HP:0002875	Exertional dyspnea	4015	LOX	ORPHA:91387
HP:0002875	Exertional dyspnea	4087	SMAD2	ORPHA:91387
HP:0002875	Exertional dyspnea	7043	TGFB3	ORPHA:91387
HP:0002875	Exertional dyspnea	4088	SMAD3	ORPHA:91387
HP:0002875	Exertional dyspnea	7042	TGFB2	ORPHA:91387
HP:0002875	Exertional dyspnea	4089	SMAD4	ORPHA:91387
HP:0002875	Exertional dyspnea	2200	FBN1	ORPHA:91387
HP:0002875	Exertional dyspnea	59	ACTA2	ORPHA:91387
HP:0002875	Exertional dyspnea	5592	PRKG1	ORPHA:91387
HP:0002875	Exertional dyspnea	2301	FOXE3	ORPHA:91387
HP:0002875	Exertional dyspnea	4144	MAT2A	ORPHA:91387
HP:0002875	Exertional dyspnea	23493	HEY2	ORPHA:91387
HP:0002875	Exertional dyspnea	8076	MFAP5	ORPHA:91387
HP:0002875	Exertional dyspnea	4638	MYLK	ORPHA:91387
HP:0002875	Exertional dyspnea	79875	THSD4	ORPHA:91387
HP:0002875	Exertional dyspnea	2006	ELN	ORPHA:91387
HP:0002876	Episodic tachypnea	9851	KIAA0753	ORPHA:475
HP:0002876	Episodic tachypnea	9851	KIAA0753	ORPHA:2754
HP:0002876	Episodic tachypnea	5147	PDE6D	ORPHA:475
HP:0002876	Episodic tachypnea	5147	PDE6D	ORPHA:2754
HP:0002876	Episodic tachypnea	79600	TCTN1	ORPHA:475
HP:0002876	Episodic tachypnea	79848	CSPP1	ORPHA:475
HP:0002876	Episodic tachypnea	8481	OFD1	ORPHA:475
HP:0002876	Episodic tachypnea	8481	OFD1	ORPHA:2754
HP:0002876	Episodic tachypnea	51684	SUFU	ORPHA:475
HP:0002876	Episodic tachypnea	54806	AHI1	ORPHA:475
HP:0002876	Episodic tachypnea	54806	AHI1	OMIM:608629
HP:0002876	Episodic tachypnea	153241	CEP120	ORPHA:475
HP:0002876	Episodic tachypnea	65250	CPLANE1	ORPHA:475
HP:0002876	Episodic tachypnea	65250	CPLANE1	ORPHA:2754
HP:0002876	Episodic tachypnea	91147	TMEM67	ORPHA:475
HP:0002876	Episodic tachypnea	200894	ARL13B	ORPHA:475
HP:0002876	Episodic tachypnea	9731	CEP104	ORPHA:475
HP:0002876	Episodic tachypnea	219844	HYLS1	ORPHA:475
HP:0002876	Episodic tachypnea	23247	KATNIP	ORPHA:475
HP:0002876	Episodic tachypnea	219854	TMEM218	ORPHA:475
HP:0002876	Episodic tachypnea	54903	MKS1	ORPHA:475
HP:0002876	Episodic tachypnea	95681	CEP41	ORPHA:475
HP:0002876	Episodic tachypnea	9786	KIAA0586	ORPHA:475
HP:0002876	Episodic tachypnea	56623	INPP5E	ORPHA:475
HP:0002876	Episodic tachypnea	56623	INPP5E	OMIM:213300
HP:0002876	Episodic tachypnea	26123	TCTN3	ORPHA:475
HP:0002876	Episodic tachypnea	26123	TCTN3	ORPHA:2754
HP:0002876	Episodic tachypnea	79867	TCTN2	ORPHA:475
HP:0002876	Episodic tachypnea	80776	B9D2	ORPHA:475
HP:0002876	Episodic tachypnea	10464	PIBF1	ORPHA:475
HP:0002876	Episodic tachypnea	80210	ARMC9	ORPHA:475
HP:0002876	Episodic tachypnea	23116	TOGARAM1	ORPHA:475
HP:0002876	Episodic tachypnea	25776	CBY1	ORPHA:475
HP:0002876	Episodic tachypnea	27077	B9D1	ORPHA:475
HP:0002876	Episodic tachypnea	403	ARL3	ORPHA:475
HP:0002876	Episodic tachypnea	80173	IFT74	ORPHA:475
HP:0002876	Episodic tachypnea	65062	TMEM237	ORPHA:475
HP:0002876	Episodic tachypnea	37	ACADVL	ORPHA:26793
HP:0002876	Episodic tachypnea	6792	CDKL5	ORPHA:3095
HP:0002876	Episodic tachypnea	22854	NTNG1	ORPHA:3095
HP:0002876	Episodic tachypnea	9568	GABBR2	ORPHA:3095
HP:0002876	Episodic tachypnea	4204	MECP2	ORPHA:3095
HP:0002876	Episodic tachypnea	8243	SMC1A	ORPHA:3095
HP:0002876	Episodic tachypnea	7385	UQCRC2	OMIM:615160
HP:0002876	Episodic tachypnea	57545	CC2D2A	OMIM:612285
HP:0002876	Episodic tachypnea	23322	RPGRIP1L	OMIM:611560
HP:0002876	Episodic tachypnea	80184	CEP290	OMIM:610188
HP:0002876	Episodic tachypnea	51259	TMEM216	OMIM:608091
HP:0002876	Episodic tachypnea	51259	TMEM216	ORPHA:2754
HP:0002876	Episodic tachypnea	2203	FBP1	ORPHA:348
HP:0002876	Episodic tachypnea	79583	TMEM231	ORPHA:2754
HP:0002876	Episodic tachypnea	10210	TOPORS	ORPHA:2754
HP:0002876	Episodic tachypnea	317662	FAM149B1	ORPHA:2754
HP:0002876	Episodic tachypnea	374654	KIF7	ORPHA:2754
HP:0002877	Nocturnal hypoventilation	3190	HNRNPK	ORPHA:453504
HP:0002877	Nocturnal hypoventilation	3190	HNRNPK	ORPHA:352665
HP:0002877	Nocturnal hypoventilation	57190	SELENON	OMIM:602771
HP:0002877	Nocturnal hypoventilation	57190	SELENON	ORPHA:324604
HP:0002877	Nocturnal hypoventilation	4625	MYH7	ORPHA:324604
HP:0002877	Nocturnal hypoventilation	7273	TTN	ORPHA:324604
HP:0002877	Nocturnal hypoventilation	7273	TTN	OMIM:603689
HP:0002877	Nocturnal hypoventilation	11080	DNAJB4	OMIM:620326
HP:0002877	Nocturnal hypoventilation	58	ACTA1	ORPHA:171436
HP:0002877	Nocturnal hypoventilation	7169	TPM2	ORPHA:171436
HP:0002877	Nocturnal hypoventilation	4703	NEB	ORPHA:171436
HP:0002877	Nocturnal hypoventilation	10324	KLHL41	ORPHA:171436
HP:0002877	Nocturnal hypoventilation	56203	LMOD3	ORPHA:171436
HP:0002877	Nocturnal hypoventilation	1073	CFL2	ORPHA:171436
HP:0002877	Nocturnal hypoventilation	1303	COL12A1	OMIM:616470
HP:0002877	Nocturnal hypoventilation	1291	COL6A1	OMIM:254090
HP:0002877	Nocturnal hypoventilation	113278	SLC52A3	OMIM:211530
HP:0002877	Nocturnal hypoventilation	79147	FKRP	OMIM:607155
HP:0002877	Nocturnal hypoventilation	8929	PHOX2B	OMIM:209880
HP:0002878	Respiratory failure	1832	DSP	ORPHA:158687
HP:0002878	Respiratory failure	3728	JUP	ORPHA:158687
HP:0002878	Respiratory failure	28981	IFT81	OMIM:617895
HP:0002878	Respiratory failure	4574	MT-TS1	OMIM:220110
HP:0002878	Respiratory failure	4570	MT-TN	OMIM:220110
HP:0002878	Respiratory failure	6834	SURF1	OMIM:220110
HP:0002878	Respiratory failure	8506	CNTNAP1	OMIM:618186
HP:0002878	Respiratory failure	27247	NFU1	OMIM:620938
HP:0002878	Respiratory failure	27247	NFU1	OMIM:605711
HP:0002878	Respiratory failure	59341	TRPV4	OMIM:606071
HP:0002878	Respiratory failure	59341	TRPV4	OMIM:156530
HP:0002878	Respiratory failure	7167	TPI1	OMIM:615512
HP:0002878	Respiratory failure	79848	CSPP1	OMIM:615636
HP:0002878	Respiratory failure	1756	DMD	OMIM:310200
HP:0002878	Respiratory failure	10102	TSFM	OMIM:610505
HP:0002878	Respiratory failure	4173	MCM4	OMIM:609981
HP:0002878	Respiratory failure	81570	CLPB	ORPHA:445038
HP:0002878	Respiratory failure	1303	COL12A1	ORPHA:75840
HP:0002878	Respiratory failure	1291	COL6A1	ORPHA:75840
HP:0002878	Respiratory failure	1292	COL6A2	ORPHA:75840
HP:0002878	Respiratory failure	1292	COL6A2	OMIM:620727
HP:0002878	Respiratory failure	1293	COL6A3	ORPHA:75840
HP:0002878	Respiratory failure	9499	MYOT	ORPHA:266
HP:0002878	Respiratory failure	3909	LAMA3	ORPHA:79404
HP:0002878	Respiratory failure	3918	LAMC2	ORPHA:79404
HP:0002878	Respiratory failure	3914	LAMB3	ORPHA:79404
HP:0002878	Respiratory failure	26580	BSCL2	ORPHA:363400
HP:0002878	Respiratory failure	54768	HYDIN	OMIM:608647
HP:0002878	Respiratory failure	54768	HYDIN	ORPHA:244
HP:0002878	Respiratory failure	91942	NDUFAF2	OMIM:618233
HP:0002878	Respiratory failure	54968	TMEM70	ORPHA:1194
HP:0002878	Respiratory failure	283989	TSEN54	OMIM:225753
HP:0002878	Respiratory failure	58	ACTA1	ORPHA:171433
HP:0002878	Respiratory failure	58	ACTA1	ORPHA:171430
HP:0002878	Respiratory failure	58	ACTA1	OMIM:620278
HP:0002878	Respiratory failure	58	ACTA1	ORPHA:2020
HP:0002878	Respiratory failure	4703	NEB	ORPHA:171433
HP:0002878	Respiratory failure	4703	NEB	ORPHA:171430
HP:0002878	Respiratory failure	4703	NEB	OMIM:619334
HP:0002878	Respiratory failure	10324	KLHL41	ORPHA:171433
HP:0002878	Respiratory failure	10324	KLHL41	ORPHA:171430
HP:0002878	Respiratory failure	7170	TPM3	ORPHA:171433
HP:0002878	Respiratory failure	7170	TPM3	ORPHA:2020
HP:0002878	Respiratory failure	388015	RTL1	ORPHA:254528
HP:0002878	Respiratory failure	388015	RTL1	ORPHA:96334
HP:0002878	Respiratory failure	8788	DLK1	ORPHA:254528
HP:0002878	Respiratory failure	8788	DLK1	ORPHA:96334
HP:0002878	Respiratory failure	55384	MEG3	ORPHA:254528
HP:0002878	Respiratory failure	55384	MEG3	ORPHA:96334
HP:0002878	Respiratory failure	6536	SLC6A9	OMIM:617301
HP:0002878	Respiratory failure	131377	KLHL40	ORPHA:171430
HP:0002878	Respiratory failure	131377	KLHL40	OMIM:615348
HP:0002878	Respiratory failure	56203	LMOD3	ORPHA:171430
HP:0002878	Respiratory failure	5160	PDHA1	OMIM:312170
HP:0002878	Respiratory failure	101060691	NUTM2B-AS1	OMIM:618637
HP:0002878	Respiratory failure	1841	DTYMK	OMIM:619847
HP:0002878	Respiratory failure	54931	TRMT10C	OMIM:616974
HP:0002878	Respiratory failure	341640	FREM2	OMIM:617666
HP:0002878	Respiratory failure	84466	MEGF10	OMIM:614399
HP:0002878	Respiratory failure	84466	MEGF10	OMIM:620249
HP:0002878	Respiratory failure	5660	PSAP	OMIM:611722
HP:0002878	Respiratory failure	5660	PSAP	ORPHA:206436
HP:0002878	Respiratory failure	3508	IGHMBP2	OMIM:604320
HP:0002878	Respiratory failure	1410	CRYAB	OMIM:613869
HP:0002878	Respiratory failure	275	AMT	OMIM:620398
HP:0002878	Respiratory failure	3908	LAMA2	ORPHA:258
HP:0002878	Respiratory failure	6440	SFTPC	OMIM:610913
HP:0002878	Respiratory failure	6440	SFTPC	ORPHA:685082
HP:0002878	Respiratory failure	6439	SFTPB	OMIM:265120
HP:0002878	Respiratory failure	6439	SFTPB	ORPHA:685082
HP:0002878	Respiratory failure	6904	TBCD	ORPHA:496641
HP:0002878	Respiratory failure	29925	GMPPB	ORPHA:370968
HP:0002878	Respiratory failure	79147	FKRP	ORPHA:370968
HP:0002878	Respiratory failure	79147	FKRP	OMIM:606612
HP:0002878	Respiratory failure	29954	POMT2	ORPHA:370968
HP:0002878	Respiratory failure	9215	LARGE1	ORPHA:370968
HP:0002878	Respiratory failure	10585	POMT1	ORPHA:370968
HP:0002878	Respiratory failure	90	ACVR1	OMIM:135100
HP:0002878	Respiratory failure	3735	KARS1	ORPHA:3240
HP:0002878	Respiratory failure	7084	TK2	ORPHA:254875
HP:0002878	Respiratory failure	25915	NDUFAF3	OMIM:618240
HP:0002878	Respiratory failure	55037	PTCD3	OMIM:619057
HP:0002878	Respiratory failure	23511	NUP188	OMIM:618804
HP:0002878	Respiratory failure	11080	DNAJB4	OMIM:620326
HP:0002878	Respiratory failure	91137	SLC25A46	OMIM:616505
HP:0002878	Respiratory failure	91137	SLC25A46	ORPHA:2254
HP:0002878	Respiratory failure	400569	MED11	OMIM:620327
HP:0002878	Respiratory failure	51008	ASCC1	OMIM:616867
HP:0002878	Respiratory failure	7273	TTN	ORPHA:609
HP:0002878	Respiratory failure	7273	TTN	OMIM:603689
HP:0002878	Respiratory failure	1509	CTSD	OMIM:610127
HP:0002878	Respiratory failure	9570	GOSR2	OMIM:620166
HP:0002878	Respiratory failure	21	ABCA3	OMIM:610921
HP:0002878	Respiratory failure	21	ABCA3	ORPHA:685082
HP:0002878	Respiratory failure	7080	NKX2-1	ORPHA:209905
HP:0002878	Respiratory failure	6606	SMN1	OMIM:253300
HP:0002878	Respiratory failure	81620	CDT1	ORPHA:2554
HP:0002878	Respiratory failure	5000	ORC4	ORPHA:2554
HP:0002878	Respiratory failure	23594	ORC6	ORPHA:2554
HP:0002878	Respiratory failure	8318	CDC45	ORPHA:2554
HP:0002878	Respiratory failure	990	CDC6	ORPHA:2554
HP:0002878	Respiratory failure	4998	ORC1	ORPHA:2554
HP:0002878	Respiratory failure	51053	GMNN	ORPHA:2554
HP:0002878	Respiratory failure	54539	NDUFB11	ORPHA:2556
HP:0002878	Respiratory failure	1349	COX7B	ORPHA:2556
HP:0002878	Respiratory failure	3052	HCCS	ORPHA:2556
HP:0002878	Respiratory failure	8802	SUCLG1	OMIM:245400
HP:0002878	Respiratory failure	4547	MTTP	ORPHA:14
HP:0002878	Respiratory failure	5354	PLP1	ORPHA:280210
HP:0002878	Respiratory failure	191	AHCY	ORPHA:88618
HP:0002878	Respiratory failure	57190	SELENON	ORPHA:2020
HP:0002878	Respiratory failure	4633	MYL2	ORPHA:2020
HP:0002878	Respiratory failure	3679	ITGA7	ORPHA:2020
HP:0002878	Respiratory failure	7169	TPM2	ORPHA:2020
HP:0002878	Respiratory failure	9200	HACD1	ORPHA:2020
HP:0002878	Respiratory failure	51776	MAP3K20	ORPHA:2020
HP:0002878	Respiratory failure	9997	SCO2	OMIM:608908
HP:0002878	Respiratory failure	9997	SCO2	OMIM:604377
HP:0002878	Respiratory failure	5277	PIGA	OMIM:300868
HP:0002878	Respiratory failure	4714	NDUFB8	OMIM:618252
HP:0002878	Respiratory failure	84896	ATAD1	OMIM:618011
HP:0002878	Respiratory failure	388962	BOLA3	OMIM:614299
HP:0002878	Respiratory failure	4632	MYL1	OMIM:618414
HP:0002878	Respiratory failure	89910	UBE3B	ORPHA:2707
HP:0002878	Respiratory failure	3265	HRAS	OMIM:218040
HP:0002878	Respiratory failure	4548	MTR	OMIM:250940
HP:0002878	Respiratory failure	29967	LRP12	OMIM:620452
HP:0002878	Respiratory failure	27130	INVS	OMIM:602088
HP:0002878	Respiratory failure	3055	HCK	OMIM:620296
HP:0002878	Respiratory failure	11340	EXOSC8	OMIM:616081
HP:0002878	Respiratory failure	11340	EXOSC8	ORPHA:2254
HP:0002878	Respiratory failure	2261	FGFR3	OMIM:616482
HP:0002878	Respiratory failure	5190	PEX6	OMIM:614862
HP:0002878	Respiratory failure	5393	EXOSC9	ORPHA:2254
HP:0002878	Respiratory failure	23287	AGTPBP1	ORPHA:2254
HP:0002878	Respiratory failure	51010	EXOSC3	ORPHA:2254
HP:0002878	Respiratory failure	7443	VRK1	ORPHA:2254
HP:0002878	Respiratory failure	90624	LYRM7	OMIM:615838
HP:0002878	Respiratory failure	3032	HADHB	ORPHA:746
HP:0002878	Respiratory failure	3030	HADHA	ORPHA:746
HP:0002878	Respiratory failure	3030	HADHA	OMIM:609015
HP:0002878	Respiratory failure	10056	FARSB	OMIM:613658
HP:0002878	Respiratory failure	81031	SLC2A10	ORPHA:3342
HP:0002878	Respiratory failure	10128	LRPPRC	ORPHA:70472
HP:0002878	Respiratory failure	92667	MGME1	ORPHA:352447
HP:0002878	Respiratory failure	56052	ALG1	ORPHA:79327
HP:0002878	Respiratory failure	4089	SMAD4	OMIM:139210
HP:0002878	Respiratory failure	374354	NHLRC2	OMIM:618278
HP:0002878	Respiratory failure	128240	NAXE	OMIM:617186
HP:0002878	Respiratory failure	2548	GAA	ORPHA:308552
HP:0002878	Respiratory failure	10660	LBX1	OMIM:619483
HP:0002878	Respiratory failure	2273	FHL1	OMIM:300717
HP:0002878	Respiratory failure	10342	TFG	ORPHA:90117
HP:0002878	Respiratory failure	2674	GFRA1	OMIM:619887
HP:0002878	Respiratory failure	1605	DAG1	OMIM:616538
HP:0002878	Respiratory failure	7284	TUFM	OMIM:610678
HP:0002878	Respiratory failure	2316	FLNA	OMIM:304120
HP:0002878	Respiratory failure	2065	ERBB3	OMIM:607598
HP:0002878	Respiratory failure	6329	SCN4A	ORPHA:98913
HP:0002878	Respiratory failure	1134	CHRNA1	ORPHA:98913
HP:0002878	Respiratory failure	4038	LRP4	ORPHA:98913
HP:0002878	Respiratory failure	1305	COL13A1	ORPHA:98913
HP:0002878	Respiratory failure	1140	CHRNB1	ORPHA:98913
HP:0002878	Respiratory failure	1144	CHRND	ORPHA:98913
HP:0002878	Respiratory failure	1145	CHRNE	ORPHA:98913
HP:0002878	Respiratory failure	4593	MUSK	ORPHA:98913
HP:0002878	Respiratory failure	5913	RAPSN	ORPHA:98913
HP:0002878	Respiratory failure	375790	AGRN	ORPHA:98913
HP:0002878	Respiratory failure	221264	AK9	ORPHA:98913
HP:0002878	Respiratory failure	285489	DOK7	ORPHA:98913
HP:0002878	Respiratory failure	199221	DZIP1L	ORPHA:731
HP:0002878	Respiratory failure	5314	PKHD1	ORPHA:731
HP:0002878	Respiratory failure	56975	FAM20C	ORPHA:1832
HP:0002878	Respiratory failure	6310	ATXN1	ORPHA:98755
HP:0002878	Respiratory failure	1376	CPT2	OMIM:608836
HP:0002878	Respiratory failure	427	ASAH1	ORPHA:2590
HP:0002878	Respiratory failure	590	BCHE	ORPHA:132
HP:0002878	Respiratory failure	10577	NPC2	OMIM:607625
HP:0002878	Respiratory failure	64135	IFIH1	OMIM:619773
HP:0002878	Respiratory failure	6651	SON	ORPHA:500150
HP:0002878	Respiratory failure	200205	IBA57	OMIM:615330
HP:0002878	Respiratory failure	125988	MICOS13	OMIM:618329
HP:0002878	Respiratory failure	4724	NDUFS4	OMIM:252010
HP:0002878	Respiratory failure	2733	GLE1	OMIM:611890
HP:0002878	Respiratory failure	2733	GLE1	ORPHA:803
HP:0002878	Respiratory failure	100151683	RNU4ATAC	ORPHA:2636
HP:0002878	Respiratory failure	10133	OPTN	OMIM:613435
HP:0002878	Respiratory failure	10133	OPTN	ORPHA:803
HP:0002878	Respiratory failure	3458	IFNG	ORPHA:805
HP:0002878	Respiratory failure	7248	TSC1	ORPHA:805
HP:0002878	Respiratory failure	7249	TSC2	ORPHA:805
HP:0002878	Respiratory failure	55005	RMND1	OMIM:614922
HP:0002878	Respiratory failure	7415	VCP	OMIM:613954
HP:0002878	Respiratory failure	7415	VCP	ORPHA:803
HP:0002878	Respiratory failure	6261	RYR1	ORPHA:98905
HP:0002878	Respiratory failure	2744	GLS	OMIM:618328
HP:0002878	Respiratory failure	2624	GATA2	ORPHA:228423
HP:0002878	Respiratory failure	4683	NBN	ORPHA:647
HP:0002878	Respiratory failure	2581	GALC	ORPHA:206436
HP:0002878	Respiratory failure	25978	CHMP2B	ORPHA:803
HP:0002878	Respiratory failure	3178	HNRNPA1	ORPHA:803
HP:0002878	Respiratory failure	8148	TAF15	ORPHA:803
HP:0002878	Respiratory failure	5445	PON2	ORPHA:803
HP:0002878	Respiratory failure	9217	VAPB	ORPHA:803
HP:0002878	Respiratory failure	8878	SQSTM1	ORPHA:803
HP:0002878	Respiratory failure	5630	PRPH	ORPHA:803
HP:0002878	Respiratory failure	29110	TBK1	ORPHA:803
HP:0002878	Respiratory failure	55830	GLT8D1	ORPHA:803
HP:0002878	Respiratory failure	755	CFAP410	ORPHA:803
HP:0002878	Respiratory failure	10891	PPARGC1A	ORPHA:803
HP:0002878	Respiratory failure	6647	SOD1	ORPHA:803
HP:0002878	Respiratory failure	1639	DCTN1	ORPHA:803
HP:0002878	Respiratory failure	9896	FIG4	ORPHA:803
HP:0002878	Respiratory failure	5444	PON1	ORPHA:803
HP:0002878	Respiratory failure	5446	PON3	ORPHA:803
HP:0002878	Respiratory failure	4744	NEFH	ORPHA:803
HP:0002878	Respiratory failure	5216	PFN1	ORPHA:803
HP:0002878	Respiratory failure	9782	MATR3	ORPHA:803
HP:0002878	Respiratory failure	54209	TREM2	ORPHA:803
HP:0002878	Respiratory failure	283	ANG	ORPHA:803
HP:0002878	Respiratory failure	23435	TARDBP	ORPHA:803
HP:0002878	Respiratory failure	29978	UBQLN2	ORPHA:803
HP:0002878	Respiratory failure	2521	FUS	ORPHA:803
HP:0002878	Respiratory failure	4750	NEK1	ORPHA:803
HP:0002878	Respiratory failure	6311	ATXN2	ORPHA:803
HP:0002878	Respiratory failure	1610	DAO	ORPHA:803
HP:0002878	Respiratory failure	2066	ERBB4	ORPHA:803
HP:0002878	Respiratory failure	311	ANXA11	ORPHA:803
HP:0002878	Respiratory failure	23025	UNC13A	ORPHA:803
HP:0002878	Respiratory failure	899	CCNF	ORPHA:803
HP:0002878	Respiratory failure	400916	CHCHD10	ORPHA:803
HP:0002878	Respiratory failure	28962	OSTM1	OMIM:259720
HP:0002878	Respiratory failure	25981	DNAH1	ORPHA:244
HP:0002878	Respiratory failure	115948	ODAD3	ORPHA:244
HP:0002878	Respiratory failure	352909	DNAAF3	ORPHA:244
HP:0002878	Respiratory failure	27148	STK36	ORPHA:244
HP:0002878	Respiratory failure	51314	NME8	ORPHA:244
HP:0002878	Respiratory failure	92749	DRC1	ORPHA:244
HP:0002878	Respiratory failure	54970	TTC12	ORPHA:244
HP:0002878	Respiratory failure	152110	NEK10	ORPHA:244
HP:0002878	Respiratory failure	8481	OFD1	ORPHA:244
HP:0002878	Respiratory failure	2302	FOXJ1	ORPHA:244
HP:0002878	Respiratory failure	221421	RSPH9	ORPHA:244
HP:0002878	Respiratory failure	85478	CCDC65	ORPHA:244
HP:0002878	Respiratory failure	55036	CCDC40	ORPHA:244
HP:0002878	Respiratory failure	51364	ZMYND10	ORPHA:244
HP:0002878	Respiratory failure	64446	DNAI2	ORPHA:244
HP:0002878	Respiratory failure	8382	NME5	ORPHA:244
HP:0002878	Respiratory failure	6674	SPAG1	ORPHA:244
HP:0002878	Respiratory failure	83544	DNAL1	ORPHA:244
HP:0002878	Respiratory failure	89765	RSPH1	ORPHA:244
HP:0002878	Respiratory failure	83538	ODAD4	ORPHA:244
HP:0002878	Respiratory failure	200373	CFAP221	ORPHA:244
HP:0002878	Respiratory failure	374407	DNAJB13	ORPHA:244
HP:0002878	Respiratory failure	55172	DNAAF2	ORPHA:244
HP:0002878	Respiratory failure	161582	DNAAF4	ORPHA:244
HP:0002878	Respiratory failure	2622	GAS8	ORPHA:244
HP:0002878	Respiratory failure	23639	DNAAF11	ORPHA:244
HP:0002878	Respiratory failure	27019	DNAI1	ORPHA:244
HP:0002878	Respiratory failure	345895	RSPH4A	ORPHA:244
HP:0002878	Respiratory failure	54919	DNAAF5	ORPHA:244
HP:0002878	Respiratory failure	6103	RPGR	ORPHA:244
HP:0002878	Respiratory failure	85452	CFAP74	ORPHA:244
HP:0002878	Respiratory failure	93233	ODAD1	ORPHA:244
HP:0002878	Respiratory failure	55130	ODAD2	ORPHA:244
HP:0002878	Respiratory failure	1767	DNAH5	ORPHA:244
HP:0002878	Respiratory failure	83861	RSPH3	ORPHA:244
HP:0002878	Respiratory failure	345643	MCIDAS	ORPHA:244
HP:0002878	Respiratory failure	56683	CFAP298	ORPHA:244
HP:0002878	Respiratory failure	79925	SPEF2	ORPHA:244
HP:0002878	Respiratory failure	10309	CCNO	ORPHA:244
HP:0002878	Respiratory failure	115399	LRRC56	ORPHA:244
HP:0002878	Respiratory failure	139212	DNAAF6	ORPHA:244
HP:0002878	Respiratory failure	123872	DNAAF1	ORPHA:244
HP:0002878	Respiratory failure	85016	CFAP300	ORPHA:244
HP:0002878	Respiratory failure	339829	CCDC39	ORPHA:244
HP:0002878	Respiratory failure	8701	DNAH11	ORPHA:244
HP:0002878	Respiratory failure	1770	DNAH9	ORPHA:244
HP:0002878	Respiratory failure	246176	GAS2L2	ORPHA:244
HP:0002878	Respiratory failure	23299	BICD2	OMIM:618291
HP:0002878	Respiratory failure	641	BLM	ORPHA:125
HP:0002878	Respiratory failure	10568	SLC34A2	ORPHA:60025
HP:0002878	Respiratory failure	1892	ECHS1	OMIM:616277
HP:0002878	Respiratory failure	115286	SLC25A26	OMIM:616794
HP:0002878	Respiratory failure	9054	NFS1	OMIM:619386
HP:0002878	Respiratory failure	27429	HTRA2	OMIM:617248
HP:0002878	Respiratory failure	132001	TAMM41	OMIM:620139
HP:0002878	Respiratory failure	54938	SARS2	OMIM:613845
HP:0002878	Respiratory failure	165918	RNF168	ORPHA:420741
HP:0002878	Respiratory failure	84705	GTPBP3	ORPHA:444013
HP:0002878	Respiratory failure	4054	LTBP3	OMIM:617809
HP:0002879	Anisospondyly	1280	COL2A1	ORPHA:85198
HP:0002879	Anisospondyly	59341	TRPV4	OMIM:156530
HP:0002879	Anisospondyly	2316	FLNA	ORPHA:2484
HP:0002879	Anisospondyly	3339	HSPG2	OMIM:224410
HP:0002879	Anisospondyly	3339	HSPG2	ORPHA:1865
HP:4000020	Anti-BP180 antibody positivity	3119	HLA-DQB1	ORPHA:703
HP:4000020	Anti-BP180 antibody positivity	3123	HLA-DRB1	ORPHA:703
HP:4000025	Anti-integrin antibody positivity	139818	DOCK11	OMIM:301109
HP:0002098	Respiratory distress	9131	AIFM1	ORPHA:238329
HP:0002098	Respiratory distress	4702	NDUFA8	OMIM:619272
HP:0002098	Respiratory distress	4594	MMUT	ORPHA:289916
HP:0002098	Respiratory distress	4594	MMUT	ORPHA:79312
HP:0002098	Respiratory distress	4594	MMUT	OMIM:251000
HP:0002098	Respiratory distress	23394	ADNP	ORPHA:404448
HP:0002098	Respiratory distress	28981	IFT81	OMIM:617895
HP:0002098	Respiratory distress	57128	LYRM4	OMIM:615595
HP:0002098	Respiratory distress	4574	MT-TS1	OMIM:220110
HP:0002098	Respiratory distress	4570	MT-TN	OMIM:220110
HP:0002098	Respiratory distress	6834	SURF1	OMIM:220110
HP:0002098	Respiratory distress	55503	TRPV6	OMIM:618188
HP:0002098	Respiratory distress	201595	STT3B	OMIM:615597
HP:0002098	Respiratory distress	201595	STT3B	ORPHA:370924
HP:0002098	Respiratory distress	2629	GBA1	OMIM:608013
HP:0002098	Respiratory distress	2629	GBA1	ORPHA:77260
HP:0002098	Respiratory distress	3909	LAMA3	ORPHA:79404
HP:0002098	Respiratory distress	3918	LAMC2	ORPHA:79404
HP:0002098	Respiratory distress	3914	LAMB3	ORPHA:79404
HP:0002098	Respiratory distress	10559	SLC35A1	ORPHA:238459
HP:0002098	Respiratory distress	2050	EPHB4	OMIM:617300
HP:0002098	Respiratory distress	65082	VPS33A	OMIM:617303
HP:0002098	Respiratory distress	65082	VPS33A	ORPHA:505248
HP:0002098	Respiratory distress	4137	MAPT	ORPHA:240085
HP:0002098	Respiratory distress	4137	MAPT	ORPHA:240103
HP:0002098	Respiratory distress	84466	MEGF10	OMIM:614399
HP:0002098	Respiratory distress	6662	SOX9	OMIM:114290
HP:0002098	Respiratory distress	58	ACTA1	OMIM:620278
HP:0002098	Respiratory distress	6440	SFTPC	OMIM:610913
HP:0002098	Respiratory distress	1896	EDA	OMIM:305100
HP:0002098	Respiratory distress	2263	FGFR2	ORPHA:93260
HP:0002098	Respiratory distress	2263	FGFR2	ORPHA:93259
HP:0002098	Respiratory distress	2263	FGFR2	OMIM:123790
HP:0002098	Respiratory distress	2263	FGFR2	ORPHA:1555
HP:0002098	Respiratory distress	4509	MT-ATP8	ORPHA:254913
HP:0002098	Respiratory distress	514	ATP5F1E	ORPHA:254913
HP:0002098	Respiratory distress	513	ATP5F1D	ORPHA:254913
HP:0002098	Respiratory distress	498	ATP5F1A	ORPHA:254913
HP:0002098	Respiratory distress	4508	MT-ATP6	ORPHA:254913
HP:0002098	Respiratory distress	84833	ATP5MK	ORPHA:254913
HP:0002098	Respiratory distress	91647	ATPAF2	ORPHA:254913
HP:0002098	Respiratory distress	150094	SIK1	OMIM:616341
HP:0002098	Respiratory distress	29967	LRP12	OMIM:164310
HP:0002098	Respiratory distress	9570	GOSR2	OMIM:620166
HP:0002098	Respiratory distress	21	ABCA3	OMIM:610921
HP:0002098	Respiratory distress	7080	NKX2-1	ORPHA:209905
HP:0002098	Respiratory distress	7080	NKX2-1	OMIM:610978
HP:0002098	Respiratory distress	79087	ALG12	OMIM:607143
HP:0002098	Respiratory distress	860	RUNX2	OMIM:119600
HP:0002098	Respiratory distress	23414	ZFPM2	ORPHA:2140
HP:0002098	Respiratory distress	9361	LONP1	ORPHA:2140
HP:0002098	Respiratory distress	2627	GATA6	ORPHA:2140
HP:0002098	Respiratory distress	2627	GATA6	ORPHA:2255
HP:0002098	Respiratory distress	5813	PURA	ORPHA:438216
HP:0002098	Respiratory distress	5813	PURA	ORPHA:314655
HP:0002098	Respiratory distress	388962	BOLA3	OMIM:614299
HP:0002098	Respiratory distress	6389	SDHA	OMIM:613642
HP:0002098	Respiratory distress	89910	UBE3B	ORPHA:2707
HP:0002098	Respiratory distress	1906	EDN1	ORPHA:137888
HP:0002098	Respiratory distress	5332	PLCB4	ORPHA:137888
HP:0002098	Respiratory distress	5332	PLCB4	OMIM:614669
HP:0002098	Respiratory distress	2773	GNAI3	ORPHA:137888
HP:0002098	Respiratory distress	113278	SLC52A3	OMIM:211530
HP:0002098	Respiratory distress	6234	RPS28	OMIM:606164
HP:0002098	Respiratory distress	4534	MTM1	ORPHA:596
HP:0002098	Respiratory distress	7840	ALMS1	ORPHA:64
HP:0002098	Respiratory distress	3572	IL6ST	OMIM:619751
HP:0002098	Respiratory distress	55768	NGLY1	OMIM:615273
HP:0002098	Respiratory distress	2261	FGFR3	OMIM:616482
HP:0002098	Respiratory distress	2261	FGFR3	OMIM:100800
HP:0002098	Respiratory distress	1280	COL2A1	OMIM:151210
HP:0002098	Respiratory distress	1280	COL2A1	OMIM:156550
HP:0002098	Respiratory distress	1280	COL2A1	OMIM:183900
HP:0002098	Respiratory distress	4607	MYBPC3	OMIM:115197
HP:0002098	Respiratory distress	51660	MPC1	OMIM:614741
HP:0002098	Respiratory distress	4613	MYCN	OMIM:620748
HP:0002098	Respiratory distress	4613	MYCN	ORPHA:635
HP:0002098	Respiratory distress	8239	USP9X	ORPHA:480880
HP:0002098	Respiratory distress	8239	USP9X	OMIM:300968
HP:0002098	Respiratory distress	8021	NUP214	OMIM:618426
HP:0002098	Respiratory distress	773	CACNA1A	ORPHA:2131
HP:0002098	Respiratory distress	6507	SLC1A3	ORPHA:2131
HP:0002098	Respiratory distress	477	ATP1A2	ORPHA:2131
HP:0002098	Respiratory distress	478	ATP1A3	ORPHA:2131
HP:0002098	Respiratory distress	81031	SLC2A10	ORPHA:3342
HP:0002098	Respiratory distress	3675	ITGA3	OMIM:614748
HP:0002098	Respiratory distress	2203	FBP1	ORPHA:348
HP:0002098	Respiratory distress	166785	MMAA	OMIM:251100
HP:0002098	Respiratory distress	4247	MGAT2	ORPHA:79329
HP:0002098	Respiratory distress	8818	DPM2	OMIM:615042
HP:0002098	Respiratory distress	8818	DPM2	ORPHA:329178
HP:0002098	Respiratory distress	9321	TRIP11	OMIM:184260
HP:0002098	Respiratory distress	9321	TRIP11	ORPHA:166272
HP:0002098	Respiratory distress	2548	GAA	ORPHA:308552
HP:0002098	Respiratory distress	51098	IFT52	OMIM:617102
HP:0002098	Respiratory distress	7841	MOGS	ORPHA:79330
HP:0002098	Respiratory distress	6231	RPS26	OMIM:613309
HP:0002098	Respiratory distress	56975	FAM20C	ORPHA:1832
HP:0002098	Respiratory distress	8314	BAP1	ORPHA:50251
HP:0002098	Respiratory distress	5373	PMM2	ORPHA:79318
HP:0002098	Respiratory distress	8813	DPM1	OMIM:608799
HP:0002098	Respiratory distress	64135	IFIH1	OMIM:619773
HP:0002098	Respiratory distress	22906	TRAK1	OMIM:618201
HP:0002098	Respiratory distress	9147	NEMF	OMIM:619099
HP:0002098	Respiratory distress	3977	LIFR	ORPHA:3206
HP:0002098	Respiratory distress	50943	FOXP3	ORPHA:37042
HP:0002098	Respiratory distress	2260	FGFR1	OMIM:166250
HP:0002098	Respiratory distress	7994	KAT6A	OMIM:616268
HP:0002098	Respiratory distress	7317	UBA1	ORPHA:1145
HP:0002098	Respiratory distress	162417	NAGS	ORPHA:927
HP:0002098	Respiratory distress	162417	NAGS	OMIM:237310
HP:0002098	Respiratory distress	3458	IFNG	ORPHA:805
HP:0002098	Respiratory distress	7248	TSC1	ORPHA:805
HP:0002098	Respiratory distress	7249	TSC2	ORPHA:805
HP:0002098	Respiratory distress	55681	SCYL2	ORPHA:1143
HP:0002098	Respiratory distress	84570	COL25A1	ORPHA:1143
HP:0002098	Respiratory distress	57222	ERGIC1	ORPHA:1143
HP:0002098	Respiratory distress	4556	MT-TE	ORPHA:2596
HP:0002098	Respiratory distress	4556	MT-TE	ORPHA:254864
HP:0002098	Respiratory distress	81570	CLPB	OMIM:616271
HP:0002098	Respiratory distress	51067	YARS2	OMIM:613561
HP:0002098	Respiratory distress	1188	CLCNKB	ORPHA:358
HP:0002098	Respiratory distress	6559	SLC12A3	ORPHA:358
HP:0002098	Respiratory distress	51422	PRKAG2	OMIM:261740
HP:0002098	Respiratory distress	4000	LMNA	OMIM:619793
HP:0002098	Respiratory distress	7167	TPI1	OMIM:615512
HP:0002098	Respiratory distress	10806	SDCCAG8	OMIM:615993
HP:0002098	Respiratory distress	1317	SLC31A1	OMIM:620306
HP:0002098	Respiratory distress	5396	PRRX1	OMIM:202650
HP:0002098	Respiratory distress	5396	PRRX1	ORPHA:990
HP:0002098	Respiratory distress	5250	SLC25A3	ORPHA:91130
HP:0002098	Respiratory distress	7512	XPNPEP2	ORPHA:100057
HP:0002098	Respiratory distress	112	ADCY6	ORPHA:2680
HP:0002098	Respiratory distress	163175	LGI4	ORPHA:2680
HP:0002098	Respiratory distress	8506	CNTNAP1	ORPHA:2680
HP:0002098	Respiratory distress	5649	RELN	ORPHA:89844
HP:0002098	Respiratory distress	10300	KATNB1	ORPHA:89844
HP:0002098	Respiratory distress	54820	NDE1	ORPHA:89844
HP:0002098	Respiratory distress	6729	SRP54	OMIM:260400
HP:0002098	Respiratory distress	51119	SBDS	OMIM:260400
HP:0002098	Respiratory distress	134218	DNAJC21	OMIM:260400
HP:0002098	Respiratory distress	10229	COQ7	OMIM:616733
HP:0002098	Respiratory distress	8320	EOMES	ORPHA:171703
HP:0002098	Respiratory distress	11093	ADAMTS13	OMIM:274150
HP:0002098	Respiratory distress	3736	KCNA1	ORPHA:37612
HP:0002098	Respiratory distress	710	SERPING1	ORPHA:100050
HP:0002098	Respiratory distress	1760	DMPK	OMIM:160900
HP:0002098	Respiratory distress	3417	IDH1	ORPHA:99646
HP:0002098	Respiratory distress	7547	ZIC3	OMIM:306955
HP:0002098	Respiratory distress	427	ASAH1	ORPHA:333
HP:0002098	Respiratory distress	1439	CSF2RB	ORPHA:264675
HP:0002098	Respiratory distress	1438	CSF2RA	ORPHA:264675
HP:0002098	Respiratory distress	1145	CHRNE	OMIM:605809
HP:0002098	Respiratory distress	7084	TK2	ORPHA:254875
HP:0002098	Respiratory distress	6777	STAT5B	OMIM:245590
HP:0002098	Respiratory distress	4998	ORC1	OMIM:224690
HP:0002098	Respiratory distress	4998	ORC1	ORPHA:2554
HP:0002098	Respiratory distress	7019	TFAM	OMIM:617156
HP:0002098	Respiratory distress	4358	MPV17	OMIM:256810
HP:0002098	Respiratory distress	686	BTD	ORPHA:79241
HP:0002098	Respiratory distress	3141	HLCS	ORPHA:79242
HP:0002098	Respiratory distress	81620	CDT1	ORPHA:2554
HP:0002098	Respiratory distress	5000	ORC4	ORPHA:2554
HP:0002098	Respiratory distress	23594	ORC6	ORPHA:2554
HP:0002098	Respiratory distress	8318	CDC45	ORPHA:2554
HP:0002098	Respiratory distress	990	CDC6	ORPHA:2554
HP:0002098	Respiratory distress	51053	GMNN	ORPHA:2554
HP:0002098	Respiratory distress	54539	NDUFB11	ORPHA:2556
HP:0002098	Respiratory distress	1349	COX7B	ORPHA:2556
HP:0002098	Respiratory distress	3052	HCCS	ORPHA:2556
HP:0002098	Respiratory distress	22827	PUF60	ORPHA:508488
HP:0002098	Respiratory distress	55687	TRMU	ORPHA:254864
HP:0002098	Respiratory distress	7161	TP73	OMIM:619466
HP:0002098	Respiratory distress	8802	SUCLG1	ORPHA:17
HP:0002098	Respiratory distress	6638	SNRPN	ORPHA:177907
HP:0002098	Respiratory distress	3868	KRT16	ORPHA:2309
HP:0002098	Respiratory distress	3872	KRT17	ORPHA:2309
HP:0002098	Respiratory distress	3853	KRT6A	ORPHA:2309
HP:0002098	Respiratory distress	3854	KRT6B	ORPHA:2309
HP:0002098	Respiratory distress	4548	MTR	OMIM:250940
HP:0002098	Respiratory distress	9343	EFTUD2	OMIM:610536
HP:0002098	Respiratory distress	26040	SETBP1	ORPHA:798
HP:0002098	Respiratory distress	326625	MMAB	OMIM:251110
HP:0002098	Respiratory distress	9997	SCO2	OMIM:604377
HP:0002098	Respiratory distress	5015	OTX2	ORPHA:990
HP:0002098	Respiratory distress	55975	KLHL7	OMIM:617055
HP:0002098	Respiratory distress	5167	ENPP1	ORPHA:51608
HP:0002098	Respiratory distress	368	ABCC6	ORPHA:51608
HP:0002098	Respiratory distress	1103	CHAT	OMIM:254210
HP:0002098	Respiratory distress	2033	EP300	OMIM:180849
HP:0002098	Respiratory distress	1387	CREBBP	OMIM:180849
HP:0002098	Respiratory distress	10382	TUBB4A	ORPHA:98805
HP:0002098	Respiratory distress	56270	WDR45B	OMIM:617977
HP:0002098	Respiratory distress	526	ATP6V1B2	ORPHA:79500
HP:0002098	Respiratory distress	57465	TBC1D24	ORPHA:79500
HP:0002098	Respiratory distress	2077	ERF	OMIM:617180
HP:0002098	Respiratory distress	10585	POMT1	ORPHA:86812
HP:0002098	Respiratory distress	3557	IL1RN	OMIM:612852
HP:0002098	Respiratory distress	8292	COLQ	ORPHA:98915
HP:0002098	Respiratory distress	3913	LAMB2	ORPHA:98915
HP:0002098	Respiratory distress	126792	B3GALT6	ORPHA:536467
HP:0002098	Respiratory distress	6748	SSR4	OMIM:300934
HP:0002098	Respiratory distress	168667	BMPER	ORPHA:66637
HP:0002098	Respiratory distress	168667	BMPER	OMIM:608022
HP:0002098	Respiratory distress	25974	MMACHC	ORPHA:79282
HP:0002098	Respiratory distress	6329	SCN4A	OMIM:620369
HP:0002098	Respiratory distress	2581	GALC	ORPHA:206436
HP:0002098	Respiratory distress	5660	PSAP	ORPHA:206436
HP:0002098	Respiratory distress	37	ACADVL	ORPHA:26793
HP:0002098	Respiratory distress	129285	PPP1R21	OMIM:619383
HP:0002098	Respiratory distress	2294	FOXF1	ORPHA:210122
HP:0002098	Respiratory distress	23040	MYT1L	ORPHA:647799
HP:0002098	Respiratory distress	51626	DYNC2LI1	OMIM:617088
HP:0002098	Respiratory distress	50484	RRM2B	OMIM:612075
HP:0002098	Respiratory distress	35	ACADS	ORPHA:26792
HP:0002098	Respiratory distress	8449	DHX16	OMIM:618733
HP:0002098	Respiratory distress	11342	RNF13	ORPHA:544503
HP:0002098	Respiratory distress	871	SERPINH1	OMIM:613848
HP:0002098	Respiratory distress	3156	HMGCR	OMIM:620375
HP:0002098	Respiratory distress	352909	DNAAF3	OMIM:606763
HP:0002098	Respiratory distress	2110	ETFDH	OMIM:231680
HP:0002098	Respiratory distress	2108	ETFA	OMIM:231680
HP:0002098	Respiratory distress	2109	ETFB	OMIM:231680
HP:0002098	Respiratory distress	65055	REEP1	OMIM:620011
HP:0002098	Respiratory distress	238	ALK	ORPHA:635
HP:0002098	Respiratory distress	389421	LIN28B	ORPHA:635
HP:0002098	Respiratory distress	4004	LMO1	ORPHA:635
HP:0002098	Respiratory distress	57531	HACE1	ORPHA:635
HP:0002098	Respiratory distress	8929	PHOX2B	ORPHA:635
HP:0002098	Respiratory distress	6584	SLC22A5	OMIM:212140
HP:0002098	Respiratory distress	4535	MT-ND1	ORPHA:255210
HP:0002098	Respiratory distress	4536	MT-ND2	ORPHA:255210
HP:0002098	Respiratory distress	4537	MT-ND3	ORPHA:255210
HP:0002098	Respiratory distress	4538	MT-ND4	ORPHA:255210
HP:0002098	Respiratory distress	4567	MT-TL1	ORPHA:255210
HP:0002098	Respiratory distress	4578	MT-TW	ORPHA:255210
HP:0002098	Respiratory distress	4577	MT-TV	ORPHA:255210
HP:0002098	Respiratory distress	4540	MT-ND5	ORPHA:255210
HP:0002098	Respiratory distress	4541	MT-ND6	ORPHA:255210
HP:0002098	Respiratory distress	4566	MT-TK	ORPHA:255210
HP:0002098	Respiratory distress	60482	SLC5A7	ORPHA:98914
HP:0002098	Respiratory distress	4649	MYO9A	ORPHA:98914
HP:0002098	Respiratory distress	1305	COL13A1	ORPHA:98914
HP:0002098	Respiratory distress	6576	SLC25A1	ORPHA:98914
HP:0002098	Respiratory distress	6843	VAMP1	ORPHA:98914
HP:0002098	Respiratory distress	375790	AGRN	ORPHA:98914
HP:0002098	Respiratory distress	127833	SYT2	ORPHA:98914
HP:0002098	Respiratory distress	6572	SLC18A3	ORPHA:98914
HP:0002098	Respiratory distress	6616	SNAP25	ORPHA:98914
HP:0002098	Respiratory distress	6439	SFTPB	ORPHA:685082
HP:0002098	Respiratory distress	5910	RAP1GDS1	OMIM:620655
HP:0002882	Sudden episodic apnea	1103	CHAT	OMIM:254210
HP:0002882	Sudden episodic apnea	1103	CHAT	ORPHA:98914
HP:0002882	Sudden episodic apnea	6792	CDKL5	ORPHA:3095
HP:0002882	Sudden episodic apnea	22854	NTNG1	ORPHA:3095
HP:0002882	Sudden episodic apnea	9568	GABBR2	ORPHA:3095
HP:0002882	Sudden episodic apnea	4204	MECP2	ORPHA:3095
HP:0002882	Sudden episodic apnea	8243	SMC1A	ORPHA:3095
HP:0002882	Sudden episodic apnea	60482	SLC5A7	ORPHA:98914
HP:0002882	Sudden episodic apnea	4649	MYO9A	ORPHA:98914
HP:0002882	Sudden episodic apnea	1305	COL13A1	ORPHA:98914
HP:0002882	Sudden episodic apnea	6576	SLC25A1	ORPHA:98914
HP:0002882	Sudden episodic apnea	6843	VAMP1	ORPHA:98914
HP:0002882	Sudden episodic apnea	375790	AGRN	ORPHA:98914
HP:0002882	Sudden episodic apnea	127833	SYT2	ORPHA:98914
HP:0002882	Sudden episodic apnea	6572	SLC18A3	ORPHA:98914
HP:0002882	Sudden episodic apnea	6616	SNAP25	ORPHA:98914
HP:0002882	Sudden episodic apnea	1145	CHRNE	OMIM:605809
HP:0002882	Sudden episodic apnea	64116	SLC39A8	ORPHA:468699
HP:0002882	Sudden episodic apnea	10667	FARS2	ORPHA:466722
HP:0002882	Sudden episodic apnea	788	SLC25A20	ORPHA:159
HP:0002883	Hyperventilation	25792	CIZ1	ORPHA:420492
HP:0002883	Hyperventilation	6792	CDKL5	OMIM:300672
HP:0002883	Hyperventilation	6792	CDKL5	ORPHA:505652
HP:0002883	Hyperventilation	6513	SLC2A1	ORPHA:64280
HP:0002883	Hyperventilation	2562	GABRB3	ORPHA:64280
HP:0002883	Hyperventilation	2554	GABRA1	ORPHA:64280
HP:0002883	Hyperventilation	8912	CACNA1H	ORPHA:64280
HP:0002883	Hyperventilation	8629	JRK	ORPHA:64280
HP:0002883	Hyperventilation	2566	GABRG2	ORPHA:64280
HP:0002883	Hyperventilation	2203	FBP1	OMIM:229700
HP:0002883	Hyperventilation	26047	CNTNAP2	OMIM:610042
HP:0002883	Hyperventilation	816	CAMK2B	OMIM:617799
HP:0002883	Hyperventilation	9378	NRXN1	OMIM:614325
HP:0002883	Hyperventilation	686	BTD	ORPHA:79241
HP:0002883	Hyperventilation	6925	TCF4	ORPHA:2896
HP:0002883	Hyperventilation	11011	TLK2	OMIM:618050
HP:0002883	Hyperventilation	1137	CHRNA4	ORPHA:98784
HP:0002883	Hyperventilation	1135	CHRNA2	ORPHA:98784
HP:0002883	Hyperventilation	57010	CABP4	ORPHA:98784
HP:0002883	Hyperventilation	1141	CHRNB2	ORPHA:98784
HP:0002883	Hyperventilation	57582	KCNT1	ORPHA:98784
HP:0002883	Hyperventilation	1392	CRH	ORPHA:98784
HP:0002883	Hyperventilation	9681	DEPDC5	ORPHA:98784
HP:0002883	Hyperventilation	4535	MT-ND1	ORPHA:255210
HP:0002883	Hyperventilation	4536	MT-ND2	ORPHA:255210
HP:0002883	Hyperventilation	4537	MT-ND3	ORPHA:255210
HP:0002883	Hyperventilation	4538	MT-ND4	ORPHA:255210
HP:0002883	Hyperventilation	4567	MT-TL1	ORPHA:255210
HP:0002883	Hyperventilation	4578	MT-TW	ORPHA:255210
HP:0002883	Hyperventilation	4577	MT-TV	ORPHA:255210
HP:0002883	Hyperventilation	4508	MT-ATP6	ORPHA:255210
HP:0002883	Hyperventilation	4540	MT-ND5	ORPHA:255210
HP:0002883	Hyperventilation	4541	MT-ND6	ORPHA:255210
HP:0002883	Hyperventilation	4566	MT-TK	ORPHA:255210
HP:0002883	Hyperventilation	6857	SYT1	ORPHA:522077
HP:0002883	Hyperventilation	200894	ARL13B	OMIM:612291
HP:0002883	Hyperventilation	7386	UQCRFS1	OMIM:618775
HP:0002883	Hyperventilation	9568	GABBR2	OMIM:617903
HP:0002883	Hyperventilation	3141	HLCS	OMIM:253270
HP:0002883	Hyperventilation	65250	CPLANE1	OMIM:614615
HP:0002883	Hyperventilation	8573	CASK	OMIM:300749
HP:0002883	Hyperventilation	4204	MECP2	OMIM:312750
HP:0002884	Hepatoblastoma	2239	GPC4	ORPHA:373
HP:0002884	Hepatoblastoma	2239	GPC4	OMIM:312870
HP:0002884	Hepatoblastoma	2719	GPC3	ORPHA:373
HP:0002884	Hepatoblastoma	2719	GPC3	OMIM:312870
HP:0002884	Hepatoblastoma	324	APC	ORPHA:261584
HP:0002884	Hepatoblastoma	324	APC	ORPHA:99818
HP:0002884	Hepatoblastoma	324	APC	OMIM:175100
HP:0002884	Hepatoblastoma	324	APC	ORPHA:79665
HP:0002884	Hepatoblastoma	1028	CDKN1C	OMIM:130650
HP:0002884	Hepatoblastoma	3481	IGF2	OMIM:130650
HP:0002884	Hepatoblastoma	3784	KCNQ1	OMIM:130650
HP:0002884	Hepatoblastoma	10984	KCNQ1OT1	OMIM:130650
HP:0002884	Hepatoblastoma	9652	SKIC3	ORPHA:84064
HP:0002884	Hepatoblastoma	6499	SKIC2	ORPHA:84064
HP:0002884	Hepatoblastoma	6597	SMARCA4	ORPHA:1465
HP:0002884	Hepatoblastoma	6598	SMARCB1	ORPHA:1465
HP:0002884	Hepatoblastoma	6659	SOX4	ORPHA:1465
HP:0002884	Hepatoblastoma	8289	ARID1A	ORPHA:1465
HP:0002884	Hepatoblastoma	5977	DPF2	ORPHA:1465
HP:0002884	Hepatoblastoma	6601	SMARCC2	ORPHA:1465
HP:0002884	Hepatoblastoma	6602	SMARCD1	ORPHA:1465
HP:0002884	Hepatoblastoma	57492	ARID1B	ORPHA:1465
HP:0002884	Hepatoblastoma	196528	ARID2	ORPHA:1465
HP:0002884	Hepatoblastoma	6605	SMARCE1	ORPHA:1465
HP:0002884	Hepatoblastoma	6664	SOX11	ORPHA:1465
HP:0002884	Hepatoblastoma	26040	SETBP1	OMIM:269150
HP:0002884	Hepatoblastoma	26040	SETBP1	ORPHA:798
HP:0002884	Hepatoblastoma	388015	RTL1	ORPHA:96334
HP:0002884	Hepatoblastoma	8788	DLK1	ORPHA:96334
HP:0002884	Hepatoblastoma	55384	MEG3	ORPHA:96334
HP:0002884	Hepatoblastoma	199221	DZIP1L	ORPHA:731
HP:0002884	Hepatoblastoma	5314	PKHD1	ORPHA:731
HP:0002884	Hepatoblastoma	2542	SLC37A4	OMIM:232240
HP:0002885	Medulloblastoma	23405	DICER1	OMIM:601200
HP:0002885	Medulloblastoma	5727	PTCH1	ORPHA:77301
HP:0002885	Medulloblastoma	5727	PTCH1	ORPHA:377
HP:0002885	Medulloblastoma	5727	PTCH1	OMIM:109400
HP:0002885	Medulloblastoma	8643	PTCH2	ORPHA:377
HP:0002885	Medulloblastoma	8643	PTCH2	OMIM:155255
HP:0002885	Medulloblastoma	51684	SUFU	ORPHA:377
HP:0002885	Medulloblastoma	51684	SUFU	OMIM:155255
HP:0002885	Medulloblastoma	51684	SUFU	OMIM:620343
HP:0002885	Medulloblastoma	171023	ASXL1	ORPHA:97297
HP:0002885	Medulloblastoma	23432	GPR161	OMIM:155255
HP:0002885	Medulloblastoma	1499	CTNNB1	OMIM:155255
HP:0002885	Medulloblastoma	8518	ELP1	OMIM:155255
HP:0002885	Medulloblastoma	675	BRCA2	OMIM:155255
HP:0002885	Medulloblastoma	675	BRCA2	OMIM:613029
HP:0002885	Medulloblastoma	4683	NBN	OMIM:251260
HP:0002885	Medulloblastoma	324	APC	ORPHA:99818
HP:0002885	Medulloblastoma	324	APC	OMIM:175100
HP:0002885	Medulloblastoma	324	APC	ORPHA:247806
HP:0002885	Medulloblastoma	324	APC	ORPHA:79665
HP:0002885	Medulloblastoma	79728	PALB2	OMIM:610832
HP:0002885	Medulloblastoma	4292	MLH1	OMIM:276300
HP:0002885	Medulloblastoma	6598	SMARCB1	OMIM:609322
HP:0002885	Medulloblastoma	7157	TP53	ORPHA:524
HP:0002885	Medulloblastoma	1029	CDKN2A	ORPHA:524
HP:0002885	Medulloblastoma	4193	MDM2	ORPHA:524
HP:0002885	Medulloblastoma	11200	CHEK2	ORPHA:524
HP:0002885	Medulloblastoma	9817	KEAP1	ORPHA:276399
HP:0002886	Vagal paraganglioma	54949	SDHAF2	OMIM:601650
HP:0002886	Vagal paraganglioma	6392	SDHD	OMIM:168000
HP:0002888	Ependymoma	4221	MEN1	ORPHA:652
HP:0002888	Ependymoma	1027	CDKN1B	ORPHA:652
HP:0002888	Ependymoma	1026	CDKN1A	ORPHA:652
HP:0002888	Ependymoma	1030	CDKN2B	ORPHA:652
HP:0002888	Ependymoma	1031	CDKN2C	ORPHA:652
HP:0002888	Ependymoma	2064	ERBB2	OMIM:137800
HP:0002888	Ependymoma	7157	TP53	OMIM:137800
HP:0002888	Ependymoma	7157	TP53	ORPHA:524
HP:0002888	Ependymoma	3417	IDH1	OMIM:137800
HP:0002888	Ependymoma	3458	IFNG	OMIM:613254
HP:0002888	Ependymoma	7249	TSC2	OMIM:613254
HP:0002888	Ependymoma	65998	ZFTA	ORPHA:251636
HP:0002888	Ependymoma	7248	TSC1	OMIM:191100
HP:0002888	Ependymoma	324	APC	ORPHA:99818
HP:0002888	Ependymoma	4771	NF2	ORPHA:637
HP:0002888	Ependymoma	4771	NF2	OMIM:101000
HP:0002888	Ependymoma	26040	SETBP1	ORPHA:798
HP:0002888	Ependymoma	4292	MLH1	OMIM:276300
HP:0002888	Ependymoma	1029	CDKN2A	ORPHA:524
HP:0002888	Ependymoma	4193	MDM2	ORPHA:524
HP:0002888	Ependymoma	11200	CHEK2	ORPHA:524
HP:0006744	Adrenocortical carcinoma	7157	TP53	OMIM:151623
HP:0006744	Adrenocortical carcinoma	7157	TP53	OMIM:202300
HP:0006744	Adrenocortical carcinoma	7157	TP53	ORPHA:1501
HP:0006744	Adrenocortical carcinoma	7157	TP53	ORPHA:524
HP:0006744	Adrenocortical carcinoma	4221	MEN1	ORPHA:652
HP:0006744	Adrenocortical carcinoma	1027	CDKN1B	ORPHA:652
HP:0006744	Adrenocortical carcinoma	1026	CDKN1A	ORPHA:652
HP:0006744	Adrenocortical carcinoma	1030	CDKN2B	ORPHA:652
HP:0006744	Adrenocortical carcinoma	1031	CDKN2C	ORPHA:652
HP:0006744	Adrenocortical carcinoma	324	APC	OMIM:175100
HP:0006744	Adrenocortical carcinoma	324	APC	ORPHA:247806
HP:0006744	Adrenocortical carcinoma	324	APC	ORPHA:79665
HP:0006744	Adrenocortical carcinoma	1028	CDKN1C	OMIM:130650
HP:0006744	Adrenocortical carcinoma	3481	IGF2	OMIM:130650
HP:0006744	Adrenocortical carcinoma	3784	KCNQ1	OMIM:130650
HP:0006744	Adrenocortical carcinoma	10984	KCNQ1OT1	OMIM:130650
HP:0006744	Adrenocortical carcinoma	84133	ZNRF3	ORPHA:1501
HP:0006744	Adrenocortical carcinoma	5573	PRKAR1A	ORPHA:1501
HP:0006744	Adrenocortical carcinoma	1499	CTNNB1	ORPHA:1501
HP:0006744	Adrenocortical carcinoma	1029	CDKN2A	ORPHA:1501
HP:0006744	Adrenocortical carcinoma	1029	CDKN2A	ORPHA:524
HP:0006744	Adrenocortical carcinoma	7015	TERT	ORPHA:1501
HP:0006744	Adrenocortical carcinoma	4193	MDM2	ORPHA:524
HP:0006744	Adrenocortical carcinoma	11200	CHEK2	ORPHA:524
HP:4000030	Anti-reticulin antibody positivity	326	AIRE	OMIM:240300
HP:4000031	Anti-type VII collagen antibody	139818	DOCK11	OMIM:301109
HP:4000037	Congenital hydrocele	4067	LYN	OMIM:620376
HP:4000039	Reduced proportion of mucosal-associated invariant T cells	1503	CTPS1	OMIM:615897
HP:0002890	Thyroid carcinoma	56980	PRDM10	ORPHA:122
HP:0002890	Thyroid carcinoma	201163	FLCN	ORPHA:122
HP:0002890	Thyroid carcinoma	5979	RET	OMIM:162300
HP:0002890	Thyroid carcinoma	5979	RET	OMIM:155240
HP:0002890	Thyroid carcinoma	5979	RET	OMIM:171400
HP:0002890	Thyroid carcinoma	4763	NF1	OMIM:162200
HP:0002890	Thyroid carcinoma	5573	PRKAR1A	OMIM:160980
HP:0002890	Thyroid carcinoma	5573	PRKAR1A	ORPHA:1359
HP:0002890	Thyroid carcinoma	4221	MEN1	ORPHA:652
HP:0002890	Thyroid carcinoma	1027	CDKN1B	ORPHA:652
HP:0002890	Thyroid carcinoma	1026	CDKN1A	ORPHA:652
HP:0002890	Thyroid carcinoma	1030	CDKN2B	ORPHA:652
HP:0002890	Thyroid carcinoma	1031	CDKN2C	ORPHA:652
HP:0002890	Thyroid carcinoma	355	FAS	ORPHA:3261
HP:0002890	Thyroid carcinoma	356	FASLG	ORPHA:3261
HP:0002890	Thyroid carcinoma	843	CASP10	ORPHA:3261
HP:0002890	Thyroid carcinoma	79577	CDC73	ORPHA:143
HP:0002890	Thyroid carcinoma	79577	CDC73	ORPHA:99880
HP:0002890	Thyroid carcinoma	5728	PTEN	ORPHA:210548
HP:0002890	Thyroid carcinoma	5728	PTEN	ORPHA:109
HP:0002890	Thyroid carcinoma	220296	HEPACAM	ORPHA:210548
HP:0002890	Thyroid carcinoma	26585	GREM1	ORPHA:157794
HP:0002890	Thyroid carcinoma	657	BMPR1A	ORPHA:157794
HP:0002890	Thyroid carcinoma	324	APC	ORPHA:99818
HP:0002890	Thyroid carcinoma	3766	KCNJ10	ORPHA:705
HP:0002890	Thyroid carcinoma	3766	KCNJ10	OMIM:274600
HP:0002890	Thyroid carcinoma	2299	FOXI1	ORPHA:705
HP:0002890	Thyroid carcinoma	2299	FOXI1	OMIM:274600
HP:0002890	Thyroid carcinoma	5172	SLC26A4	ORPHA:705
HP:0002890	Thyroid carcinoma	5172	SLC26A4	OMIM:274600
HP:0002890	Thyroid carcinoma	9817	KEAP1	ORPHA:276399
HP:0002890	Thyroid carcinoma	23405	DICER1	ORPHA:276399
HP:0002890	Thyroid carcinoma	7486	WRN	ORPHA:902
HP:0002890	Thyroid carcinoma	7038	TG	OMIM:274700
HP:0002890	Thyroid carcinoma	50940	PDE11A	ORPHA:1359
HP:0002890	Thyroid carcinoma	7157	TP53	ORPHA:524
HP:0002890	Thyroid carcinoma	1029	CDKN2A	ORPHA:524
HP:0002890	Thyroid carcinoma	4193	MDM2	ORPHA:524
HP:0002890	Thyroid carcinoma	11200	CHEK2	ORPHA:524
HP:0002890	Thyroid carcinoma	7080	NKX2-1	OMIM:188550
HP:0002890	Thyroid carcinoma	4893	NRAS	OMIM:188470
HP:0002890	Thyroid carcinoma	57522	SRGAP1	OMIM:188470
HP:0002890	Thyroid carcinoma	3265	HRAS	OMIM:188470
HP:0002890	Thyroid carcinoma	9562	MINPP1	OMIM:188470
HP:0002890	Thyroid carcinoma	9562	MINPP1	ORPHA:319487
HP:0002890	Thyroid carcinoma	2304	FOXE1	OMIM:616534
HP:0002890	Thyroid carcinoma	2304	FOXE1	ORPHA:319487
HP:0002890	Thyroid carcinoma	6597	SMARCA4	ORPHA:1465
HP:0002890	Thyroid carcinoma	6598	SMARCB1	ORPHA:1465
HP:0002890	Thyroid carcinoma	6659	SOX4	ORPHA:1465
HP:0002890	Thyroid carcinoma	8289	ARID1A	ORPHA:1465
HP:0002890	Thyroid carcinoma	5977	DPF2	ORPHA:1465
HP:0002890	Thyroid carcinoma	6601	SMARCC2	ORPHA:1465
HP:0002890	Thyroid carcinoma	6602	SMARCD1	ORPHA:1465
HP:0002890	Thyroid carcinoma	57492	ARID1B	ORPHA:1465
HP:0002890	Thyroid carcinoma	196528	ARID2	ORPHA:1465
HP:0002890	Thyroid carcinoma	6605	SMARCE1	ORPHA:1465
HP:0002890	Thyroid carcinoma	6664	SOX11	ORPHA:1465
HP:0002890	Thyroid carcinoma	10483	SEC23B	OMIM:616858
HP:0002890	Thyroid carcinoma	182	JAG1	OMIM:118450
HP:0002890	Thyroid carcinoma	3026	HABP2	ORPHA:319487
HP:0002890	Thyroid carcinoma	6390	SDHB	ORPHA:201
HP:0002890	Thyroid carcinoma	6392	SDHD	ORPHA:201
HP:0002890	Thyroid carcinoma	6391	SDHC	ORPHA:201
HP:0002890	Thyroid carcinoma	207	AKT1	ORPHA:201
HP:0002890	Thyroid carcinoma	205717	USF3	ORPHA:201
HP:0002890	Thyroid carcinoma	5290	PIK3CA	ORPHA:201
HP:0002890	Thyroid carcinoma	100144748	KLLN	ORPHA:201
HP:0002891	Uterine leiomyosarcoma	699	BUB1	OMIM:114500
HP:0002891	Uterine leiomyosarcoma	581	BAX	OMIM:114500
HP:0002891	Uterine leiomyosarcoma	25788	RAD54B	OMIM:114500
HP:0002891	Uterine leiomyosarcoma	5795	PTPRJ	OMIM:114500
HP:0002891	Uterine leiomyosarcoma	5157	PDGFRL	OMIM:114500
HP:0002891	Uterine leiomyosarcoma	1630	DCC	OMIM:114500
HP:0002891	Uterine leiomyosarcoma	207	AKT1	OMIM:114500
HP:0002891	Uterine leiomyosarcoma	7157	TP53	OMIM:114500
HP:0002891	Uterine leiomyosarcoma	673	BRAF	OMIM:114500
HP:0002891	Uterine leiomyosarcoma	10395	DLC1	OMIM:114500
HP:0002891	Uterine leiomyosarcoma	8313	AXIN2	OMIM:114500
HP:0002891	Uterine leiomyosarcoma	4163	MCC	OMIM:114500
HP:0002891	Uterine leiomyosarcoma	2261	FGFR3	OMIM:114500
HP:0002891	Uterine leiomyosarcoma	201163	FLCN	OMIM:114500
HP:0002891	Uterine leiomyosarcoma	595	CCND1	OMIM:114500
HP:0002891	Uterine leiomyosarcoma	7097	TLR2	OMIM:114500
HP:0002891	Uterine leiomyosarcoma	6714	SRC	OMIM:114500
HP:0002891	Uterine leiomyosarcoma	2033	EP300	OMIM:114500
HP:0002891	Uterine leiomyosarcoma	27030	MLH3	OMIM:114500
HP:0002891	Uterine leiomyosarcoma	5320	PLA2G2A	OMIM:114500
HP:0002891	Uterine leiomyosarcoma	1499	CTNNB1	OMIM:114500
HP:0002891	Uterine leiomyosarcoma	6790	AURKA	OMIM:114500
HP:0002891	Uterine leiomyosarcoma	4893	NRAS	OMIM:114500
HP:0002891	Uterine leiomyosarcoma	324	APC	OMIM:114500
HP:0002891	Uterine leiomyosarcoma	701	BUB1B	OMIM:114500
HP:0002891	Uterine leiomyosarcoma	5782	PTPN12	OMIM:114500
HP:0002891	Uterine leiomyosarcoma	5290	PIK3CA	OMIM:114500
HP:0002891	Uterine leiomyosarcoma	2271	FH	OMIM:150800
HP:0002891	Uterine leiomyosarcoma	2271	FH	ORPHA:523
HP:0006715	Glomus tympanicum paraganglioma	54949	SDHAF2	OMIM:601650
HP:0006715	Glomus tympanicum paraganglioma	6392	SDHD	OMIM:168000
HP:0002893	Pituitary adenoma	5573	PRKAR1A	OMIM:160980
HP:0002893	Pituitary adenoma	4221	MEN1	ORPHA:652
HP:0002893	Pituitary adenoma	4221	MEN1	OMIM:131100
HP:0002893	Pituitary adenoma	1027	CDKN1B	ORPHA:652
HP:0002893	Pituitary adenoma	1027	CDKN1B	OMIM:610755
HP:0002893	Pituitary adenoma	1027	CDKN1B	ORPHA:276152
HP:0002893	Pituitary adenoma	1026	CDKN1A	ORPHA:652
HP:0002893	Pituitary adenoma	1030	CDKN2B	ORPHA:652
HP:0002893	Pituitary adenoma	1031	CDKN2C	ORPHA:652
HP:0002893	Pituitary adenoma	2778	GNAS	OMIM:174800
HP:0002893	Pituitary adenoma	2778	GNAS	ORPHA:189427
HP:0002893	Pituitary adenoma	3458	IFNG	ORPHA:805
HP:0002893	Pituitary adenoma	7248	TSC1	ORPHA:805
HP:0002893	Pituitary adenoma	7249	TSC2	ORPHA:805
HP:0002893	Pituitary adenoma	324	APC	ORPHA:99818
HP:0002893	Pituitary adenoma	9049	AIP	OMIM:102200
HP:0002893	Pituitary adenoma	9049	AIP	OMIM:219090
HP:0002893	Pituitary adenoma	4072	EPCAM	ORPHA:144
HP:0002893	Pituitary adenoma	4292	MLH1	ORPHA:144
HP:0002893	Pituitary adenoma	5395	PMS2	ORPHA:144
HP:0002893	Pituitary adenoma	7048	TGFBR2	ORPHA:144
HP:0002893	Pituitary adenoma	3845	KRAS	ORPHA:144
HP:0002893	Pituitary adenoma	5290	PIK3CA	ORPHA:144
HP:0002893	Pituitary adenoma	2956	MSH6	ORPHA:144
HP:0002893	Pituitary adenoma	5378	PMS1	ORPHA:144
HP:0002893	Pituitary adenoma	4436	MSH2	ORPHA:144
HP:0002893	Pituitary adenoma	83550	GPR101	OMIM:300943
HP:0002893	Pituitary adenoma	83550	GPR101	OMIM:300942
HP:0002893	Pituitary adenoma	64072	CDH23	OMIM:617540
HP:0002893	Pituitary adenoma	64218	SEMA4A	ORPHA:440437
HP:0002893	Pituitary adenoma	472	ATM	ORPHA:440437
HP:0002893	Pituitary adenoma	5426	POLE	ORPHA:440437
HP:0002893	Pituitary adenoma	675	BRCA2	ORPHA:440437
HP:0002893	Pituitary adenoma	657	BMPR1A	ORPHA:440437
HP:0002893	Pituitary adenoma	6224	RPS20	ORPHA:440437
HP:0002893	Pituitary adenoma	4595	MUTYH	ORPHA:440437
HP:0002893	Pituitary adenoma	5424	POLD1	ORPHA:440437
HP:0002893	Pituitary adenoma	11200	CHEK2	ORPHA:440437
HP:0002893	Pituitary adenoma	79798	ARMC5	ORPHA:189427
HP:0002893	Pituitary adenoma	23028	KDM1A	ORPHA:189427
HP:0002893	Pituitary adenoma	9101	USP8	OMIM:219090
HP:0002893	Pituitary adenoma	3418	IDH2	ORPHA:163634
HP:0002893	Pituitary adenoma	3417	IDH1	ORPHA:163634
HP:0002893	Pituitary adenoma	7528	YY1	ORPHA:97279
HP:0002893	Pituitary adenoma	84196	USP48	ORPHA:96253
HP:0002893	Pituitary adenoma	7157	TP53	ORPHA:96253
HP:0002893	Pituitary adenoma	2908	NR3C1	ORPHA:96253
HP:0002893	Pituitary adenoma	673	BRAF	ORPHA:96253
HP:0002893	Pituitary adenoma	546	ATRX	ORPHA:96253
HP:0002893	Pituitary adenoma	51726	DNAJB11	ORPHA:730
HP:0002893	Pituitary adenoma	23193	GANAB	ORPHA:730
HP:0002893	Pituitary adenoma	5310	PKD1	ORPHA:730
HP:0002893	Pituitary adenoma	5311	PKD2	ORPHA:730
HP:0002893	Pituitary adenoma	29880	ALG5	ORPHA:730
HP:0002893	Pituitary adenoma	9742	IFT140	ORPHA:730
HP:0002893	Pituitary adenoma	79796	ALG9	ORPHA:730
HP:0002893	Pituitary adenoma	80114	BICC1	ORPHA:730
HP:0002893	Pituitary adenoma	50940	PDE11A	ORPHA:1359
HP:0002894	Neoplasm of the pancreas	7428	VHL	ORPHA:892
HP:0002894	Neoplasm of the pancreas	7428	VHL	OMIM:193300
HP:0002894	Neoplasm of the pancreas	595	CCND1	ORPHA:892
HP:0002894	Neoplasm of the pancreas	595	CCND1	OMIM:193300
HP:0002894	Neoplasm of the pancreas	4221	MEN1	ORPHA:652
HP:0002894	Neoplasm of the pancreas	1027	CDKN1B	ORPHA:652
HP:0002894	Neoplasm of the pancreas	1026	CDKN1A	ORPHA:652
HP:0002894	Neoplasm of the pancreas	1030	CDKN2B	ORPHA:652
HP:0002894	Neoplasm of the pancreas	1030	CDKN2B	ORPHA:618
HP:0002894	Neoplasm of the pancreas	1031	CDKN2C	ORPHA:652
HP:0002894	Neoplasm of the pancreas	4854	NOTCH3	ORPHA:2591
HP:0002894	Neoplasm of the pancreas	5159	PDGFRB	ORPHA:2591
HP:0002894	Neoplasm of the pancreas	91	ACVR1B	OMIM:260350
HP:0002894	Neoplasm of the pancreas	3845	KRAS	OMIM:260350
HP:0002894	Neoplasm of the pancreas	3845	KRAS	ORPHA:144
HP:0002894	Neoplasm of the pancreas	4089	SMAD4	OMIM:260350
HP:0002894	Neoplasm of the pancreas	6794	STK11	OMIM:260350
HP:0002894	Neoplasm of the pancreas	6794	STK11	OMIM:175200
HP:0002894	Neoplasm of the pancreas	7157	TP53	OMIM:260350
HP:0002894	Neoplasm of the pancreas	7157	TP53	OMIM:151623
HP:0002894	Neoplasm of the pancreas	7157	TP53	ORPHA:524
HP:0002894	Neoplasm of the pancreas	7157	TP53	ORPHA:145
HP:0002894	Neoplasm of the pancreas	324	APC	ORPHA:247806
HP:0002894	Neoplasm of the pancreas	324	APC	ORPHA:79665
HP:0002894	Neoplasm of the pancreas	1029	CDKN2A	ORPHA:524
HP:0002894	Neoplasm of the pancreas	1029	CDKN2A	ORPHA:618
HP:0002894	Neoplasm of the pancreas	4193	MDM2	ORPHA:524
HP:0002894	Neoplasm of the pancreas	11200	CHEK2	ORPHA:524
HP:0002894	Neoplasm of the pancreas	11200	CHEK2	ORPHA:145
HP:0002894	Neoplasm of the pancreas	11200	CHEK2	ORPHA:440437
HP:0002894	Neoplasm of the pancreas	672	BRCA1	ORPHA:145
HP:0002894	Neoplasm of the pancreas	5892	RAD51D	ORPHA:145
HP:0002894	Neoplasm of the pancreas	675	BRCA2	ORPHA:145
HP:0002894	Neoplasm of the pancreas	675	BRCA2	ORPHA:440437
HP:0002894	Neoplasm of the pancreas	675	BRCA2	OMIM:613347
HP:0002894	Neoplasm of the pancreas	5728	PTEN	ORPHA:145
HP:0002894	Neoplasm of the pancreas	10111	RAD50	ORPHA:145
HP:0002894	Neoplasm of the pancreas	580	BARD1	ORPHA:145
HP:0002894	Neoplasm of the pancreas	5888	RAD51	ORPHA:145
HP:0002894	Neoplasm of the pancreas	4683	NBN	ORPHA:145
HP:0002894	Neoplasm of the pancreas	5889	RAD51C	ORPHA:145
HP:0002894	Neoplasm of the pancreas	83990	BRIP1	ORPHA:145
HP:0002894	Neoplasm of the pancreas	4361	MRE11	ORPHA:145
HP:0002894	Neoplasm of the pancreas	79728	PALB2	ORPHA:145
HP:0002894	Neoplasm of the pancreas	4072	EPCAM	ORPHA:144
HP:0002894	Neoplasm of the pancreas	4292	MLH1	ORPHA:144
HP:0002894	Neoplasm of the pancreas	5395	PMS2	ORPHA:144
HP:0002894	Neoplasm of the pancreas	7048	TGFBR2	ORPHA:144
HP:0002894	Neoplasm of the pancreas	5290	PIK3CA	ORPHA:144
HP:0002894	Neoplasm of the pancreas	2956	MSH6	ORPHA:144
HP:0002894	Neoplasm of the pancreas	2956	MSH6	OMIM:614350
HP:0002894	Neoplasm of the pancreas	5378	PMS1	ORPHA:144
HP:0002894	Neoplasm of the pancreas	4436	MSH2	ORPHA:144
HP:0002894	Neoplasm of the pancreas	2642	GCGR	ORPHA:438274
HP:0002894	Neoplasm of the pancreas	2130	EWSR1	ORPHA:83469
HP:0002894	Neoplasm of the pancreas	7490	WT1	ORPHA:83469
HP:0002894	Neoplasm of the pancreas	80169	CTC1	ORPHA:1775
HP:0002894	Neoplasm of the pancreas	26277	TINF2	ORPHA:1775
HP:0002894	Neoplasm of the pancreas	55651	NHP2	ORPHA:1775
HP:0002894	Neoplasm of the pancreas	79650	USB1	ORPHA:1775
HP:0002894	Neoplasm of the pancreas	55135	WRAP53	ORPHA:1775
HP:0002894	Neoplasm of the pancreas	51750	RTEL1	ORPHA:1775
HP:0002894	Neoplasm of the pancreas	4869	NPM1	ORPHA:1775
HP:0002894	Neoplasm of the pancreas	7012	TERC	ORPHA:1775
HP:0002894	Neoplasm of the pancreas	55505	NOP10	ORPHA:1775
HP:0002894	Neoplasm of the pancreas	5073	PARN	ORPHA:1775
HP:0002894	Neoplasm of the pancreas	7015	TERT	ORPHA:1775
HP:0002894	Neoplasm of the pancreas	7015	TERT	ORPHA:618
HP:0002894	Neoplasm of the pancreas	1736	DKC1	ORPHA:1775
HP:0002894	Neoplasm of the pancreas	7298	TYMS	ORPHA:1775
HP:0002894	Neoplasm of the pancreas	64218	SEMA4A	ORPHA:440437
HP:0002894	Neoplasm of the pancreas	472	ATM	ORPHA:440437
HP:0002894	Neoplasm of the pancreas	5426	POLE	ORPHA:440437
HP:0002894	Neoplasm of the pancreas	657	BMPR1A	ORPHA:440437
HP:0002894	Neoplasm of the pancreas	6224	RPS20	ORPHA:440437
HP:0002894	Neoplasm of the pancreas	4595	MUTYH	ORPHA:440437
HP:0002894	Neoplasm of the pancreas	5424	POLD1	ORPHA:440437
HP:0002894	Neoplasm of the pancreas	8314	BAP1	ORPHA:618
HP:0002894	Neoplasm of the pancreas	4286	MITF	ORPHA:618
HP:0002894	Neoplasm of the pancreas	1019	CDK4	ORPHA:618
HP:0002894	Neoplasm of the pancreas	4255	MGMT	ORPHA:618
HP:0002894	Neoplasm of the pancreas	54386	TERF2IP	ORPHA:618
HP:0002894	Neoplasm of the pancreas	4157	MC1R	ORPHA:618
HP:0002894	Neoplasm of the pancreas	65057	ACD	ORPHA:618
HP:0002894	Neoplasm of the pancreas	25913	POT1	ORPHA:618
HP:0002894	Neoplasm of the pancreas	1188	CLCNKB	ORPHA:358
HP:0002894	Neoplasm of the pancreas	6559	SLC12A3	ORPHA:358
HP:0002894	Neoplasm of the pancreas	6690	SPINK1	OMIM:608189
HP:0002894	Neoplasm of the pancreas	2313	FLI1	ORPHA:370348
HP:0002894	Neoplasm of the pancreas	5573	PRKAR1A	ORPHA:1359
HP:0002894	Neoplasm of the pancreas	50940	PDE11A	ORPHA:1359
HP:0002894	Neoplasm of the pancreas	23022	PALLD	OMIM:606856
HP:0002894	Neoplasm of the pancreas	23022	PALLD	ORPHA:1333
HP:0002894	Neoplasm of the pancreas	79577	CDC73	ORPHA:143
HP:0002894	Neoplasm of the pancreas	79577	CDC73	ORPHA:99880
HP:0002894	Neoplasm of the pancreas	79577	CDC73	OMIM:145001
HP:0002894	Neoplasm of the pancreas	11330	CTRC	ORPHA:103918
HP:0002894	Neoplasm of the pancreas	54894	RNF43	ORPHA:157798
HP:0002894	Neoplasm of the pancreas	285282	RABL3	OMIM:618680
HP:0002894	Neoplasm of the pancreas	285282	RABL3	ORPHA:1333
HP:0002894	Neoplasm of the pancreas	4913	NTHL1	ORPHA:454840
HP:0002894	Neoplasm of the pancreas	4913	NTHL1	OMIM:616415
HP:0002894	Neoplasm of the pancreas	7373	COL14A1	ORPHA:79501
HP:0002894	Neoplasm of the pancreas	79719	AAGAB	ORPHA:79501
HP:0002894	Neoplasm of the pancreas	389692	MAFA	OMIM:147630
HP:0002894	Neoplasm of the pancreas	3767	KCNJ11	ORPHA:79644
HP:0002894	Neoplasm of the pancreas	23476	BRD4	ORPHA:443167
HP:0002894	Neoplasm of the pancreas	256646	NUTM1	ORPHA:443167
HP:0002894	Neoplasm of the pancreas	2778	GNAS	OMIM:174800
HP:0002895	Papillary thyroid carcinoma	23405	DICER1	OMIM:138800
HP:0002895	Papillary thyroid carcinoma	7080	NKX2-1	OMIM:188550
HP:0002895	Papillary thyroid carcinoma	4893	NRAS	OMIM:188470
HP:0002895	Papillary thyroid carcinoma	57522	SRGAP1	OMIM:188470
HP:0002895	Papillary thyroid carcinoma	3265	HRAS	OMIM:188470
HP:0002895	Papillary thyroid carcinoma	9562	MINPP1	OMIM:188470
HP:0002895	Papillary thyroid carcinoma	9562	MINPP1	ORPHA:319487
HP:0002895	Papillary thyroid carcinoma	2304	FOXE1	OMIM:616534
HP:0002895	Papillary thyroid carcinoma	2304	FOXE1	ORPHA:319487
HP:0002895	Papillary thyroid carcinoma	6597	SMARCA4	ORPHA:1465
HP:0002895	Papillary thyroid carcinoma	6598	SMARCB1	ORPHA:1465
HP:0002895	Papillary thyroid carcinoma	6659	SOX4	ORPHA:1465
HP:0002895	Papillary thyroid carcinoma	8289	ARID1A	ORPHA:1465
HP:0002895	Papillary thyroid carcinoma	5977	DPF2	ORPHA:1465
HP:0002895	Papillary thyroid carcinoma	6601	SMARCC2	ORPHA:1465
HP:0002895	Papillary thyroid carcinoma	6602	SMARCD1	ORPHA:1465
HP:0002895	Papillary thyroid carcinoma	57492	ARID1B	ORPHA:1465
HP:0002895	Papillary thyroid carcinoma	196528	ARID2	ORPHA:1465
HP:0002895	Papillary thyroid carcinoma	6605	SMARCE1	ORPHA:1465
HP:0002895	Papillary thyroid carcinoma	6664	SOX11	ORPHA:1465
HP:0002895	Papillary thyroid carcinoma	10483	SEC23B	OMIM:616858
HP:0002895	Papillary thyroid carcinoma	182	JAG1	OMIM:118450
HP:0002895	Papillary thyroid carcinoma	324	APC	ORPHA:99818
HP:0002895	Papillary thyroid carcinoma	324	APC	OMIM:175100
HP:0002895	Papillary thyroid carcinoma	324	APC	ORPHA:247806
HP:0002895	Papillary thyroid carcinoma	324	APC	ORPHA:79665
HP:0002895	Papillary thyroid carcinoma	3026	HABP2	ORPHA:319487
HP:0002895	Papillary thyroid carcinoma	5573	PRKAR1A	ORPHA:1359
HP:0002895	Papillary thyroid carcinoma	50940	PDE11A	ORPHA:1359
HP:0002896	Neoplasm of the liver	435	ASL	ORPHA:23
HP:0002896	Neoplasm of the liver	355	FAS	ORPHA:3261
HP:0002896	Neoplasm of the liver	356	FASLG	ORPHA:3261
HP:0002896	Neoplasm of the liver	843	CASP10	ORPHA:3261
HP:0002896	Neoplasm of the liver	695	BTK	OMIM:300755
HP:0002896	Neoplasm of the liver	5265	SERPINA1	OMIM:613490
HP:0002896	Neoplasm of the liver	5265	SERPINA1	ORPHA:60
HP:0002896	Neoplasm of the liver	3043	HBB	ORPHA:231214
HP:0002896	Neoplasm of the liver	3043	HBB	ORPHA:231222
HP:0002896	Neoplasm of the liver	3043	HBB	ORPHA:231226
HP:0002896	Neoplasm of the liver	83932	SPRTN	OMIM:616200
HP:0002896	Neoplasm of the liver	9414	TJP2	OMIM:615878
HP:0002896	Neoplasm of the liver	2542	SLC37A4	OMIM:232220
HP:0002896	Neoplasm of the liver	2542	SLC37A4	ORPHA:79259
HP:0002896	Neoplasm of the liver	2542	SLC37A4	OMIM:232240
HP:0002896	Neoplasm of the liver	2153	F5	OMIM:600880
HP:0002896	Neoplasm of the liver	3717	JAK2	OMIM:600880
HP:0002896	Neoplasm of the liver	3594	IL12RB1	ORPHA:186
HP:0002896	Neoplasm of the liver	23534	TNPO3	ORPHA:186
HP:0002896	Neoplasm of the liver	3592	IL12A	ORPHA:186
HP:0002896	Neoplasm of the liver	6689	SPIB	ORPHA:186
HP:0002896	Neoplasm of the liver	5450	POU2AF1	ORPHA:186
HP:0002896	Neoplasm of the liver	9966	TNFSF15	ORPHA:186
HP:0002896	Neoplasm of the liver	79258	MMEL1	ORPHA:186
HP:0002896	Neoplasm of the liver	3663	IRF5	ORPHA:186
HP:0002896	Neoplasm of the liver	64218	SEMA4A	ORPHA:440437
HP:0002896	Neoplasm of the liver	472	ATM	ORPHA:440437
HP:0002896	Neoplasm of the liver	5426	POLE	ORPHA:440437
HP:0002896	Neoplasm of the liver	657	BMPR1A	ORPHA:440437
HP:0002896	Neoplasm of the liver	6224	RPS20	ORPHA:440437
HP:0002896	Neoplasm of the liver	4595	MUTYH	ORPHA:440437
HP:0002896	Neoplasm of the liver	5424	POLD1	ORPHA:440437
HP:0002896	Neoplasm of the liver	11200	CHEK2	ORPHA:440437
HP:0002896	Neoplasm of the liver	182	JAG1	OMIM:118450
HP:0002896	Neoplasm of the liver	6514	SLC2A2	ORPHA:2088
HP:0002896	Neoplasm of the liver	3145	HMBS	OMIM:176000
HP:0002896	Neoplasm of the liver	3145	HMBS	ORPHA:79276
HP:0002896	Neoplasm of the liver	540	ATP7B	OMIM:277900
HP:0002896	Neoplasm of the liver	5573	PRKAR1A	ORPHA:1359
HP:0002896	Neoplasm of the liver	50940	PDE11A	ORPHA:1359
HP:0002896	Neoplasm of the liver	10165	SLC25A13	OMIM:603471
HP:0002896	Neoplasm of the liver	10165	SLC25A13	ORPHA:247585
HP:0002896	Neoplasm of the liver	8647	ABCB11	OMIM:601847
HP:0002896	Neoplasm of the liver	2859	GPR35	ORPHA:171
HP:0002896	Neoplasm of the liver	10507	SEMA4D	ORPHA:171
HP:0002896	Neoplasm of the liver	4485	MST1	ORPHA:171
HP:0002896	Neoplasm of the liver	6925	TCF4	ORPHA:171
HP:0002896	Neoplasm of the liver	2538	G6PC1	OMIM:232200
HP:0002896	Neoplasm of the liver	4358	MPV17	OMIM:256810
HP:0002896	Neoplasm of the liver	654	BMP6	ORPHA:465508
HP:0002896	Neoplasm of the liver	3077	HFE	ORPHA:465508
HP:0002896	Neoplasm of the liver	3077	HFE	OMIM:235200
HP:0002896	Neoplasm of the liver	5257	PHKB	ORPHA:79240
HP:0002896	Neoplasm of the liver	2184	FAH	OMIM:276700
HP:0002896	Neoplasm of the liver	2184	FAH	ORPHA:882
HP:0002896	Neoplasm of the liver	3481	IGF2	OMIM:180860
HP:0002896	Neoplasm of the liver	5836	PYGL	ORPHA:369
HP:0002896	Neoplasm of the liver	191	AHCY	ORPHA:88618
HP:0002896	Neoplasm of the liver	4233	MET	OMIM:114550
HP:0002896	Neoplasm of the liver	1499	CTNNB1	OMIM:114550
HP:0002896	Neoplasm of the liver	8312	AXIN1	OMIM:114550
HP:0002896	Neoplasm of the liver	324	APC	OMIM:114550
HP:0002896	Neoplasm of the liver	5157	PDGFRL	OMIM:114550
HP:0002896	Neoplasm of the liver	3482	IGF2R	OMIM:114550
HP:0002896	Neoplasm of the liver	841	CASP8	OMIM:114550
HP:0002896	Neoplasm of the liver	55340	GIMAP5	OMIM:619463
HP:0002896	Neoplasm of the liver	7289	TULP3	OMIM:619902
HP:0002896	Neoplasm of the liver	1371	CPOX	ORPHA:79273
HP:0002896	Neoplasm of the liver	7389	UROD	OMIM:176100
HP:0002896	Neoplasm of the liver	5498	PPOX	ORPHA:79473
HP:0002896	Neoplasm of the liver	650	BMP2	OMIM:235200
HP:0002896	Neoplasm of the liver	2239	GPC4	ORPHA:373
HP:0002896	Neoplasm of the liver	2239	GPC4	OMIM:312870
HP:0002896	Neoplasm of the liver	1028	CDKN1C	OMIM:130650
HP:0002896	Neoplasm of the liver	3784	KCNQ1	OMIM:130650
HP:0002896	Neoplasm of the liver	10984	KCNQ1OT1	OMIM:130650
HP:0002896	Neoplasm of the liver	9652	SKIC3	ORPHA:84064
HP:0002896	Neoplasm of the liver	6499	SKIC2	ORPHA:84064
HP:0002896	Neoplasm of the liver	6597	SMARCA4	ORPHA:1465
HP:0002896	Neoplasm of the liver	6598	SMARCB1	ORPHA:1465
HP:0002896	Neoplasm of the liver	6659	SOX4	ORPHA:1465
HP:0002896	Neoplasm of the liver	8289	ARID1A	ORPHA:1465
HP:0002896	Neoplasm of the liver	5977	DPF2	ORPHA:1465
HP:0002896	Neoplasm of the liver	6601	SMARCC2	ORPHA:1465
HP:0002896	Neoplasm of the liver	6602	SMARCD1	ORPHA:1465
HP:0002896	Neoplasm of the liver	57492	ARID1B	ORPHA:1465
HP:0002896	Neoplasm of the liver	196528	ARID2	ORPHA:1465
HP:0002896	Neoplasm of the liver	6605	SMARCE1	ORPHA:1465
HP:0002896	Neoplasm of the liver	6664	SOX11	ORPHA:1465
HP:0002896	Neoplasm of the liver	26040	SETBP1	OMIM:269150
HP:0002896	Neoplasm of the liver	26040	SETBP1	ORPHA:798
HP:0002896	Neoplasm of the liver	388015	RTL1	ORPHA:96334
HP:0002896	Neoplasm of the liver	8788	DLK1	ORPHA:96334
HP:0002896	Neoplasm of the liver	55384	MEG3	ORPHA:96334
HP:0002896	Neoplasm of the liver	199221	DZIP1L	ORPHA:731
HP:0002896	Neoplasm of the liver	5314	PKHD1	ORPHA:731
HP:0002896	Neoplasm of the liver	4072	EPCAM	ORPHA:144
HP:0002896	Neoplasm of the liver	4292	MLH1	ORPHA:144
HP:0002896	Neoplasm of the liver	5395	PMS2	ORPHA:144
HP:0002896	Neoplasm of the liver	7048	TGFBR2	ORPHA:144
HP:0002896	Neoplasm of the liver	3845	KRAS	ORPHA:144
HP:0002896	Neoplasm of the liver	3845	KRAS	ORPHA:1333
HP:0002896	Neoplasm of the liver	5290	PIK3CA	ORPHA:144
HP:0002896	Neoplasm of the liver	2956	MSH6	ORPHA:144
HP:0002896	Neoplasm of the liver	5378	PMS1	ORPHA:144
HP:0002896	Neoplasm of the liver	4436	MSH2	ORPHA:144
HP:0002896	Neoplasm of the liver	6609	SMPD1	ORPHA:77293
HP:0002896	Neoplasm of the liver	5244	ABCB4	ORPHA:69663
HP:0002896	Neoplasm of the liver	65998	ZFTA	ORPHA:251636
HP:0002896	Neoplasm of the liver	4665	NAB2	ORPHA:2126
HP:0002896	Neoplasm of the liver	6778	STAT6	ORPHA:2126
HP:0002896	Neoplasm of the liver	56623	INPP5E	ORPHA:1454
HP:0002896	Neoplasm of the liver	91147	TMEM67	ORPHA:1454
HP:0002896	Neoplasm of the liver	23322	RPGRIP1L	ORPHA:1454
HP:0002896	Neoplasm of the liver	57545	CC2D2A	ORPHA:1454
HP:0002896	Neoplasm of the liver	672	BRCA1	ORPHA:1333
HP:0002896	Neoplasm of the liver	285282	RABL3	ORPHA:1333
HP:0002896	Neoplasm of the liver	7157	TP53	ORPHA:1333
HP:0002896	Neoplasm of the liver	675	BRCA2	ORPHA:1333
HP:0002896	Neoplasm of the liver	675	BRCA2	ORPHA:654
HP:0002896	Neoplasm of the liver	1029	CDKN2A	ORPHA:1333
HP:0002896	Neoplasm of the liver	79728	PALB2	ORPHA:1333
HP:0002896	Neoplasm of the liver	4089	SMAD4	ORPHA:1333
HP:0002896	Neoplasm of the liver	23022	PALLD	ORPHA:1333
HP:0002896	Neoplasm of the liver	5978	REST	ORPHA:654
HP:0002896	Neoplasm of the liver	129563	DIS3L2	ORPHA:654
HP:0002896	Neoplasm of the liver	9319	TRIP13	ORPHA:654
HP:0002896	Neoplasm of the liver	7490	WT1	ORPHA:654
HP:0002896	Neoplasm of the liver	10155	TRIM28	ORPHA:654
HP:0002896	Neoplasm of the liver	11281	POU6F2	ORPHA:654
HP:0002896	Neoplasm of the liver	2719	GPC3	ORPHA:654
HP:0002896	Neoplasm of the liver	283120	H19	ORPHA:654
HP:0002896	Neoplasm of the liver	3767	KCNJ11	ORPHA:552
HP:0002896	Neoplasm of the liver	8462	KLF11	ORPHA:552
HP:0002896	Neoplasm of the liver	2645	GCK	ORPHA:552
HP:0002896	Neoplasm of the liver	26060	APPL1	ORPHA:552
HP:0002896	Neoplasm of the liver	640	BLK	ORPHA:552
HP:0002896	Neoplasm of the liver	1056	CEL	ORPHA:552
HP:0002896	Neoplasm of the liver	4760	NEUROD1	ORPHA:552
HP:0002896	Neoplasm of the liver	3651	PDX1	ORPHA:552
HP:0002896	Neoplasm of the liver	6833	ABCC8	ORPHA:552
HP:0002896	Neoplasm of the liver	5078	PAX4	ORPHA:552
HP:0002896	Neoplasm of the liver	3172	HNF4A	ORPHA:552
HP:0002896	Neoplasm of the liver	6927	HNF1A	ORPHA:552
HP:0002896	Neoplasm of the liver	6927	HNF1A	OMIM:142330
HP:0002896	Neoplasm of the liver	3630	INS	ORPHA:552
HP:0002896	Neoplasm of the liver	2778	GNAS	ORPHA:562
HP:0002896	Neoplasm of the liver	7543	ZFX	OMIM:301118
HP:0002896	Neoplasm of the liver	5256	PHKA2	ORPHA:264580
HP:0002896	Neoplasm of the liver	5261	PHKG2	ORPHA:264580
HP:0002896	Neoplasm of the liver	2033	EP300	OMIM:180849
HP:0002896	Neoplasm of the liver	1387	CREBBP	OMIM:180849
HP:0002896	Neoplasm of the liver	595	CCND1	OMIM:193300
HP:0002896	Neoplasm of the liver	7428	VHL	OMIM:193300
HP:0002897	Parathyroid adenoma	56980	PRDM10	ORPHA:122
HP:0002897	Parathyroid adenoma	201163	FLCN	ORPHA:122
HP:0002897	Parathyroid adenoma	4763	NF1	OMIM:162200
HP:0002897	Parathyroid adenoma	79577	CDC73	ORPHA:99880
HP:0002897	Parathyroid adenoma	79577	CDC73	OMIM:145001
HP:0002897	Parathyroid adenoma	79577	CDC73	ORPHA:99879
HP:0002897	Parathyroid adenoma	5979	RET	OMIM:171400
HP:0002897	Parathyroid adenoma	4221	MEN1	OMIM:131100
HP:0002897	Parathyroid adenoma	4221	MEN1	ORPHA:99879
HP:0002897	Parathyroid adenoma	7543	ZFX	OMIM:301118
HP:0002897	Parathyroid adenoma	846	CASR	OMIM:145980
HP:0002897	Parathyroid adenoma	3458	IFNG	ORPHA:805
HP:0002897	Parathyroid adenoma	7248	TSC1	ORPHA:805
HP:0002897	Parathyroid adenoma	7249	TSC2	ORPHA:805
HP:0002897	Parathyroid adenoma	3418	IDH2	ORPHA:163634
HP:0002897	Parathyroid adenoma	3417	IDH1	ORPHA:163634
HP:0002897	Parathyroid adenoma	9247	GCM2	ORPHA:99879
HP:0002897	Parathyroid adenoma	1027	CDKN1B	OMIM:610755
HP:0002897	Parathyroid adenoma	1027	CDKN1B	ORPHA:276152
HP:0002897	Parathyroid adenoma	1188	CLCNKB	ORPHA:358
HP:0002897	Parathyroid adenoma	6559	SLC12A3	ORPHA:358
HP:0002898	Embryonal neoplasm	5290	PIK3CA	OMIM:612918
HP:0002898	Embryonal neoplasm	5290	PIK3CA	ORPHA:276280
HP:0002898	Embryonal neoplasm	5290	PIK3CA	OMIM:602501
HP:0002898	Embryonal neoplasm	5290	PIK3CA	ORPHA:140944
HP:0002898	Embryonal neoplasm	129563	DIS3L2	OMIM:267000
HP:0002898	Embryonal neoplasm	129563	DIS3L2	ORPHA:2849
HP:0002898	Embryonal neoplasm	129563	DIS3L2	ORPHA:654
HP:0002898	Embryonal neoplasm	11281	POU6F2	OMIM:601583
HP:0002898	Embryonal neoplasm	11281	POU6F2	ORPHA:654
HP:0002898	Embryonal neoplasm	716	C1S	OMIM:617174
HP:0002898	Embryonal neoplasm	9158	FIBP	ORPHA:500095
HP:0002898	Embryonal neoplasm	9158	FIBP	OMIM:617107
HP:0002898	Embryonal neoplasm	9759	HDAC4	ORPHA:1001
HP:0002898	Embryonal neoplasm	5978	REST	OMIM:616806
HP:0002898	Embryonal neoplasm	5978	REST	ORPHA:654
HP:0002898	Embryonal neoplasm	7490	WT1	ORPHA:347
HP:0002898	Embryonal neoplasm	7490	WT1	ORPHA:220
HP:0002898	Embryonal neoplasm	7490	WT1	ORPHA:654
HP:0002898	Embryonal neoplasm	7490	WT1	OMIM:256370
HP:0002898	Embryonal neoplasm	7490	WT1	OMIM:194080
HP:0002898	Embryonal neoplasm	7490	WT1	ORPHA:251510
HP:0002898	Embryonal neoplasm	7490	WT1	OMIM:194072
HP:0002898	Embryonal neoplasm	7490	WT1	OMIM:194070
HP:0002898	Embryonal neoplasm	2132	EXT2	ORPHA:52022
HP:0002898	Embryonal neoplasm	60529	ALX4	ORPHA:52022
HP:0002898	Embryonal neoplasm	51317	PHF21A	ORPHA:52022
HP:0002898	Embryonal neoplasm	79577	CDC73	ORPHA:143
HP:0002898	Embryonal neoplasm	79577	CDC73	OMIM:145001
HP:0002898	Embryonal neoplasm	79577	CDC73	ORPHA:99880
HP:0002898	Embryonal neoplasm	675	BRCA2	OMIM:613029
HP:0002898	Embryonal neoplasm	675	BRCA2	ORPHA:654
HP:0002898	Embryonal neoplasm	675	BRCA2	OMIM:194070
HP:0002898	Embryonal neoplasm	79728	PALB2	OMIM:610832
HP:0002898	Embryonal neoplasm	9319	TRIP13	ORPHA:654
HP:0002898	Embryonal neoplasm	9319	TRIP13	OMIM:617598
HP:0002898	Embryonal neoplasm	9319	TRIP13	ORPHA:1052
HP:0002898	Embryonal neoplasm	10155	TRIM28	ORPHA:654
HP:0002898	Embryonal neoplasm	283120	H19	ORPHA:654
HP:0002898	Embryonal neoplasm	283120	H19	ORPHA:2128
HP:0002898	Embryonal neoplasm	283120	H19	OMIM:194070
HP:0002898	Embryonal neoplasm	3265	HRAS	ORPHA:2874
HP:0002898	Embryonal neoplasm	5727	PTCH1	ORPHA:77301
HP:0002898	Embryonal neoplasm	641	BLM	ORPHA:125
HP:0002898	Embryonal neoplasm	171023	ASXL1	ORPHA:97297
HP:0002898	Embryonal neoplasm	9184	BUB3	ORPHA:1052
HP:0002898	Embryonal neoplasm	699	BUB1	ORPHA:1052
HP:0002898	Embryonal neoplasm	9702	CEP57	ORPHA:1052
HP:0002898	Embryonal neoplasm	4591	TRIM37	OMIM:253250
HP:0002898	Embryonal neoplasm	6662	SOX9	ORPHA:251510
HP:0002898	Embryonal neoplasm	6845	VAMP7	ORPHA:251510
HP:0002898	Embryonal neoplasm	51741	WWOX	ORPHA:251510
HP:0002898	Embryonal neoplasm	4214	MAP3K1	ORPHA:251510
HP:0002898	Embryonal neoplasm	2516	NR5A1	ORPHA:251510
HP:0002898	Embryonal neoplasm	57647	DHX37	ORPHA:251510
HP:0002898	Embryonal neoplasm	6736	SRY	ORPHA:251510
HP:0002898	Embryonal neoplasm	23414	ZFPM2	ORPHA:251510
HP:0002898	Embryonal neoplasm	190	NR0B1	ORPHA:251510
HP:0002898	Embryonal neoplasm	2626	GATA4	ORPHA:251510
HP:0002898	Embryonal neoplasm	161742	SPRED1	ORPHA:137605
HP:0002898	Embryonal neoplasm	5080	PAX6	OMIM:194072
HP:0002898	Embryonal neoplasm	324	APC	ORPHA:261584
HP:0002898	Embryonal neoplasm	324	APC	ORPHA:99818
HP:0002898	Embryonal neoplasm	324	APC	OMIM:175100
HP:0002898	Embryonal neoplasm	324	APC	ORPHA:79665
HP:0002898	Embryonal neoplasm	1028	CDKN1C	OMIM:130650
HP:0002898	Embryonal neoplasm	3481	IGF2	OMIM:130650
HP:0002898	Embryonal neoplasm	3784	KCNQ1	OMIM:130650
HP:0002898	Embryonal neoplasm	10984	KCNQ1OT1	OMIM:130650
HP:0002898	Embryonal neoplasm	9652	SKIC3	ORPHA:84064
HP:0002898	Embryonal neoplasm	6499	SKIC2	ORPHA:84064
HP:0002898	Embryonal neoplasm	6597	SMARCA4	ORPHA:1465
HP:0002898	Embryonal neoplasm	6598	SMARCB1	ORPHA:1465
HP:0002898	Embryonal neoplasm	6659	SOX4	ORPHA:1465
HP:0002898	Embryonal neoplasm	8289	ARID1A	ORPHA:1465
HP:0002898	Embryonal neoplasm	5977	DPF2	ORPHA:1465
HP:0002898	Embryonal neoplasm	6601	SMARCC2	ORPHA:1465
HP:0002898	Embryonal neoplasm	6602	SMARCD1	ORPHA:1465
HP:0002898	Embryonal neoplasm	57492	ARID1B	ORPHA:1465
HP:0002898	Embryonal neoplasm	196528	ARID2	ORPHA:1465
HP:0002898	Embryonal neoplasm	6605	SMARCE1	ORPHA:1465
HP:0002898	Embryonal neoplasm	6664	SOX11	ORPHA:1465
HP:0002898	Embryonal neoplasm	26040	SETBP1	OMIM:269150
HP:0002898	Embryonal neoplasm	26040	SETBP1	ORPHA:798
HP:0002898	Embryonal neoplasm	388015	RTL1	ORPHA:96334
HP:0002898	Embryonal neoplasm	8788	DLK1	ORPHA:96334
HP:0002898	Embryonal neoplasm	55384	MEG3	ORPHA:96334
HP:0002898	Embryonal neoplasm	199221	DZIP1L	ORPHA:731
HP:0002898	Embryonal neoplasm	5314	PKHD1	ORPHA:731
HP:0002898	Embryonal neoplasm	2542	SLC37A4	OMIM:232240
HP:0002898	Embryonal neoplasm	2719	GPC3	OMIM:312870
HP:0002898	Embryonal neoplasm	2239	GPC4	OMIM:312870
HP:0002898	Embryonal neoplasm	8915	BCL10	OMIM:273300
HP:0002898	Embryonal neoplasm	2261	FGFR3	OMIM:273300
HP:0002898	Embryonal neoplasm	3815	KIT	OMIM:273300
HP:0002898	Embryonal neoplasm	6794	STK11	OMIM:273300
HP:0002898	Embryonal neoplasm	4763	NF1	OMIM:162200
HP:0002898	Embryonal neoplasm	5002	SLC22A18	OMIM:268210
HP:0002898	Embryonal neoplasm	23405	DICER1	OMIM:180295
HP:0002898	Embryonal neoplasm	8379	MAD1L1	OMIM:620189
HP:0002898	Embryonal neoplasm	701	BUB1B	OMIM:257300
HP:0002898	Embryonal neoplasm	168667	BMPER	OMIM:608022
HP:0002898	Embryonal neoplasm	5925	RB1	ORPHA:1587
HP:0002898	Embryonal neoplasm	5925	RB1	OMIM:180200
HP:0002898	Embryonal neoplasm	5925	RB1	OMIM:259500
HP:0002898	Embryonal neoplasm	7157	TP53	OMIM:259500
HP:0002898	Embryonal neoplasm	11200	CHEK2	OMIM:259500
HP:0002898	Embryonal neoplasm	4437	MSH3	ORPHA:480536
HP:0002898	Embryonal neoplasm	5573	PRKAR1A	ORPHA:1359
HP:0002898	Embryonal neoplasm	50940	PDE11A	ORPHA:1359
HP:0002898	Embryonal neoplasm	3110	MNX1	ORPHA:1552
HP:0002898	Embryonal neoplasm	64324	NSD1	ORPHA:821
HP:0002898	Embryonal neoplasm	10297	APC2	ORPHA:821
HP:0001402	Hepatocellular carcinoma	435	ASL	ORPHA:23
HP:0001402	Hepatocellular carcinoma	355	FAS	ORPHA:3261
HP:0001402	Hepatocellular carcinoma	356	FASLG	ORPHA:3261
HP:0001402	Hepatocellular carcinoma	843	CASP10	ORPHA:3261
HP:0001402	Hepatocellular carcinoma	695	BTK	OMIM:300755
HP:0001402	Hepatocellular carcinoma	5265	SERPINA1	OMIM:613490
HP:0001402	Hepatocellular carcinoma	5265	SERPINA1	ORPHA:60
HP:0001402	Hepatocellular carcinoma	3043	HBB	ORPHA:231214
HP:0001402	Hepatocellular carcinoma	3043	HBB	ORPHA:231222
HP:0001402	Hepatocellular carcinoma	3043	HBB	ORPHA:231226
HP:0001402	Hepatocellular carcinoma	83932	SPRTN	OMIM:616200
HP:0001402	Hepatocellular carcinoma	9414	TJP2	OMIM:615878
HP:0001402	Hepatocellular carcinoma	2542	SLC37A4	OMIM:232220
HP:0001402	Hepatocellular carcinoma	2542	SLC37A4	ORPHA:79259
HP:0001402	Hepatocellular carcinoma	2542	SLC37A4	OMIM:232240
HP:0001402	Hepatocellular carcinoma	4072	EPCAM	ORPHA:144
HP:0001402	Hepatocellular carcinoma	4292	MLH1	ORPHA:144
HP:0001402	Hepatocellular carcinoma	5395	PMS2	ORPHA:144
HP:0001402	Hepatocellular carcinoma	7048	TGFBR2	ORPHA:144
HP:0001402	Hepatocellular carcinoma	3845	KRAS	ORPHA:144
HP:0001402	Hepatocellular carcinoma	5290	PIK3CA	ORPHA:144
HP:0001402	Hepatocellular carcinoma	5290	PIK3CA	OMIM:114550
HP:0001402	Hepatocellular carcinoma	2956	MSH6	ORPHA:144
HP:0001402	Hepatocellular carcinoma	5378	PMS1	ORPHA:144
HP:0001402	Hepatocellular carcinoma	4436	MSH2	ORPHA:144
HP:0001402	Hepatocellular carcinoma	2153	F5	OMIM:600880
HP:0001402	Hepatocellular carcinoma	3717	JAK2	OMIM:600880
HP:0001402	Hepatocellular carcinoma	3594	IL12RB1	ORPHA:186
HP:0001402	Hepatocellular carcinoma	23534	TNPO3	ORPHA:186
HP:0001402	Hepatocellular carcinoma	3592	IL12A	ORPHA:186
HP:0001402	Hepatocellular carcinoma	6689	SPIB	ORPHA:186
HP:0001402	Hepatocellular carcinoma	5450	POU2AF1	ORPHA:186
HP:0001402	Hepatocellular carcinoma	9966	TNFSF15	ORPHA:186
HP:0001402	Hepatocellular carcinoma	79258	MMEL1	ORPHA:186
HP:0001402	Hepatocellular carcinoma	3663	IRF5	ORPHA:186
HP:0001402	Hepatocellular carcinoma	5244	ABCB4	ORPHA:69663
HP:0001402	Hepatocellular carcinoma	64218	SEMA4A	ORPHA:440437
HP:0001402	Hepatocellular carcinoma	472	ATM	ORPHA:440437
HP:0001402	Hepatocellular carcinoma	5426	POLE	ORPHA:440437
HP:0001402	Hepatocellular carcinoma	675	BRCA2	ORPHA:440437
HP:0001402	Hepatocellular carcinoma	657	BMPR1A	ORPHA:440437
HP:0001402	Hepatocellular carcinoma	6224	RPS20	ORPHA:440437
HP:0001402	Hepatocellular carcinoma	4595	MUTYH	ORPHA:440437
HP:0001402	Hepatocellular carcinoma	5424	POLD1	ORPHA:440437
HP:0001402	Hepatocellular carcinoma	11200	CHEK2	ORPHA:440437
HP:0001402	Hepatocellular carcinoma	182	JAG1	OMIM:118450
HP:0001402	Hepatocellular carcinoma	6514	SLC2A2	ORPHA:2088
HP:0001402	Hepatocellular carcinoma	3145	HMBS	OMIM:176000
HP:0001402	Hepatocellular carcinoma	3145	HMBS	ORPHA:79276
HP:0001402	Hepatocellular carcinoma	540	ATP7B	OMIM:277900
HP:0001402	Hepatocellular carcinoma	5573	PRKAR1A	ORPHA:1359
HP:0001402	Hepatocellular carcinoma	50940	PDE11A	ORPHA:1359
HP:0001402	Hepatocellular carcinoma	10165	SLC25A13	OMIM:603471
HP:0001402	Hepatocellular carcinoma	10165	SLC25A13	ORPHA:247585
HP:0001402	Hepatocellular carcinoma	8647	ABCB11	OMIM:601847
HP:0001402	Hepatocellular carcinoma	2859	GPR35	ORPHA:171
HP:0001402	Hepatocellular carcinoma	10507	SEMA4D	ORPHA:171
HP:0001402	Hepatocellular carcinoma	4485	MST1	ORPHA:171
HP:0001402	Hepatocellular carcinoma	6925	TCF4	ORPHA:171
HP:0001402	Hepatocellular carcinoma	2538	G6PC1	OMIM:232200
HP:0001402	Hepatocellular carcinoma	4358	MPV17	OMIM:256810
HP:0001402	Hepatocellular carcinoma	654	BMP6	ORPHA:465508
HP:0001402	Hepatocellular carcinoma	3077	HFE	ORPHA:465508
HP:0001402	Hepatocellular carcinoma	3077	HFE	OMIM:235200
HP:0001402	Hepatocellular carcinoma	5257	PHKB	ORPHA:79240
HP:0001402	Hepatocellular carcinoma	2184	FAH	OMIM:276700
HP:0001402	Hepatocellular carcinoma	2184	FAH	ORPHA:882
HP:0001402	Hepatocellular carcinoma	3481	IGF2	OMIM:180860
HP:0001402	Hepatocellular carcinoma	5836	PYGL	ORPHA:369
HP:0001402	Hepatocellular carcinoma	191	AHCY	ORPHA:88618
HP:0001402	Hepatocellular carcinoma	4233	MET	OMIM:114550
HP:0001402	Hepatocellular carcinoma	1499	CTNNB1	OMIM:114550
HP:0001402	Hepatocellular carcinoma	8312	AXIN1	OMIM:114550
HP:0001402	Hepatocellular carcinoma	324	APC	OMIM:114550
HP:0001402	Hepatocellular carcinoma	5157	PDGFRL	OMIM:114550
HP:0001402	Hepatocellular carcinoma	3482	IGF2R	OMIM:114550
HP:0001402	Hepatocellular carcinoma	841	CASP8	OMIM:114550
HP:0001402	Hepatocellular carcinoma	7157	TP53	OMIM:114550
HP:0001402	Hepatocellular carcinoma	55340	GIMAP5	OMIM:619463
HP:0001402	Hepatocellular carcinoma	7289	TULP3	OMIM:619902
HP:0001402	Hepatocellular carcinoma	1371	CPOX	ORPHA:79273
HP:0001402	Hepatocellular carcinoma	7389	UROD	OMIM:176100
HP:0001402	Hepatocellular carcinoma	5498	PPOX	ORPHA:79473
HP:0001402	Hepatocellular carcinoma	650	BMP2	OMIM:235200
HP:4000041	AA amyloidosis	7132	TNFRSF1A	OMIM:142680
HP:4000041	AA amyloidosis	149233	IL23R	ORPHA:117
HP:4000041	AA amyloidosis	6775	STAT4	ORPHA:117
HP:4000041	AA amyloidosis	3586	IL10	ORPHA:117
HP:4000041	AA amyloidosis	4210	MEFV	ORPHA:117
HP:4000041	AA amyloidosis	1230	CCR1	ORPHA:117
HP:4000041	AA amyloidosis	355	FAS	ORPHA:117
HP:4000041	AA amyloidosis	3592	IL12A	ORPHA:117
HP:4000041	AA amyloidosis	101928376	IL12A-AS1	ORPHA:117
HP:4000041	AA amyloidosis	3106	HLA-B	ORPHA:117
HP:4000041	AA amyloidosis	7099	TLR4	ORPHA:117
HP:4000041	AA amyloidosis	3459	IFNGR1	ORPHA:117
HP:4000041	AA amyloidosis	720	C4A	ORPHA:117
HP:4000041	AA amyloidosis	337867	UBAC2	ORPHA:117
HP:4000041	AA amyloidosis	51752	ERAP1	ORPHA:117
HP:4000041	AA amyloidosis	8302	KLRC4	ORPHA:117
HP:4000054	Exanthem	4598	MVK	OMIM:610377
HP:4000054	Exanthem	171023	ASXL1	ORPHA:98850
HP:4000054	Exanthem	54790	TET2	ORPHA:98850
HP:4000054	Exanthem	867	CBL	ORPHA:98850
HP:4000054	Exanthem	861	RUNX1	ORPHA:98850
HP:4000054	Exanthem	6427	SRSF2	ORPHA:98850
HP:4000054	Exanthem	114548	NLRP3	OMIM:191900
HP:4000054	Exanthem	7132	TNFRSF1A	OMIM:142680
HP:4000054	Exanthem	2038	EPB42	ORPHA:822
HP:4000054	Exanthem	6521	SLC4A1	ORPHA:822
HP:4000054	Exanthem	6710	SPTB	ORPHA:822
HP:4000054	Exanthem	6708	SPTA1	ORPHA:822
HP:4000054	Exanthem	286	ANK1	ORPHA:822
HP:4000054	Exanthem	5551	PRF1	ORPHA:540
HP:4000054	Exanthem	8676	STX11	ORPHA:540
HP:4000054	Exanthem	201294	UNC13D	ORPHA:540
HP:4000054	Exanthem	6813	STXBP2	ORPHA:540
HP:4000054	Exanthem	57169	ZNFX1	OMIM:619644
HP:4000054	Exanthem	8517	IKBKG	OMIM:308300
HP:4000054	Exanthem	3815	KIT	ORPHA:79455
HP:4000054	Exanthem	56244	BTNL2	ORPHA:797
HP:4000054	Exanthem	3123	HLA-DRB1	ORPHA:797
HP:4000054	Exanthem	29110	TBK1	OMIM:620880
HP:4000055	Intestinal inflammation	1777	DNASE2	OMIM:619858
HP:4000056	Abnormal apoptosis	54790	TET2	OMIM:619126
HP:4000057	Decreased FasL-mediated apoptosis	54790	TET2	OMIM:619126
HP:4000059	Abnormal lung development	28981	IFT81	OMIM:617895
HP:4000059	Abnormal lung development	4750	NEK1	OMIM:263520
HP:4000059	Abnormal lung development	8425	LTBP4	OMIM:613177
HP:4000059	Abnormal lung development	23556	PIGN	ORPHA:2059
HP:4000059	Abnormal lung development	23556	PIGN	OMIM:614080
HP:4000059	Abnormal lung development	1317	SLC31A1	OMIM:620306
HP:4000059	Abnormal lung development	2733	GLE1	ORPHA:1486
HP:4000059	Abnormal lung development	2733	GLE1	OMIM:253310
HP:4000059	Abnormal lung development	79848	CSPP1	OMIM:615636
HP:4000059	Abnormal lung development	5396	PRRX1	OMIM:202650
HP:4000059	Abnormal lung development	8195	MKKS	OMIM:236700
HP:4000059	Abnormal lung development	8854	ALDH1A2	OMIM:620025
HP:4000059	Abnormal lung development	10992	SF3B2	OMIM:164210
HP:4000059	Abnormal lung development	64220	STRA6	OMIM:601186
HP:4000059	Abnormal lung development	64220	STRA6	ORPHA:2470
HP:4000059	Abnormal lung development	2629	GBA1	OMIM:608013
HP:4000059	Abnormal lung development	81839	VANGL1	ORPHA:3027
HP:4000059	Abnormal lung development	80199	FUZ	ORPHA:3027
HP:4000059	Abnormal lung development	1636	ACE	OMIM:267430
HP:4000059	Abnormal lung development	183	AGT	OMIM:267430
HP:4000059	Abnormal lung development	185	AGTR1	OMIM:267430
HP:4000059	Abnormal lung development	5972	REN	OMIM:267430
HP:4000059	Abnormal lung development	57539	WDR35	ORPHA:93271
HP:4000059	Abnormal lung development	57539	WDR35	OMIM:614091
HP:4000059	Abnormal lung development	91754	NEK9	OMIM:617022
HP:4000059	Abnormal lung development	58	ACTA1	ORPHA:171430
HP:4000059	Abnormal lung development	4703	NEB	ORPHA:171430
HP:4000059	Abnormal lung development	131377	KLHL40	ORPHA:171430
HP:4000059	Abnormal lung development	10324	KLHL41	ORPHA:171430
HP:4000059	Abnormal lung development	56203	LMOD3	ORPHA:171430
HP:4000059	Abnormal lung development	10229	COQ7	OMIM:616733
HP:4000059	Abnormal lung development	55784	MCTP2	ORPHA:1596
HP:4000059	Abnormal lung development	5915	RARB	OMIM:615524
HP:4000059	Abnormal lung development	5915	RARB	ORPHA:2470
HP:4000059	Abnormal lung development	5189	PEX1	OMIM:214100
HP:4000059	Abnormal lung development	56975	FAM20C	OMIM:259775
HP:4000059	Abnormal lung development	1146	CHRNG	OMIM:265000
HP:4000059	Abnormal lung development	1146	CHRNG	ORPHA:2990
HP:4000059	Abnormal lung development	1146	CHRNG	OMIM:253290
HP:4000059	Abnormal lung development	51132	RLIM	OMIM:300978
HP:4000059	Abnormal lung development	8260	NAA10	OMIM:300855
HP:4000059	Abnormal lung development	8260	NAA10	OMIM:309800
HP:4000059	Abnormal lung development	50814	NSDHL	OMIM:308050
HP:4000059	Abnormal lung development	23522	KAT6B	OMIM:606170
HP:4000059	Abnormal lung development	23522	KAT6B	ORPHA:85201
HP:4000059	Abnormal lung development	6261	RYR1	OMIM:255320
HP:4000059	Abnormal lung development	51008	ASCC1	OMIM:616867
HP:4000059	Abnormal lung development	57211	ADGRG6	OMIM:616503
HP:4000059	Abnormal lung development	9325	TRIP4	OMIM:616866
HP:4000059	Abnormal lung development	3339	HSPG2	ORPHA:1865
HP:4000059	Abnormal lung development	3339	HSPG2	OMIM:224410
HP:4000059	Abnormal lung development	23414	ZFPM2	ORPHA:2140
HP:4000059	Abnormal lung development	9361	LONP1	ORPHA:2140
HP:4000059	Abnormal lung development	2627	GATA6	ORPHA:2140
HP:4000059	Abnormal lung development	5745	PTH1R	ORPHA:50945
HP:4000059	Abnormal lung development	3977	LIFR	OMIM:601559
HP:4000059	Abnormal lung development	23384	SPECC1L	OMIM:145420
HP:4000059	Abnormal lung development	27130	INVS	OMIM:602088
HP:4000059	Abnormal lung development	26040	SETBP1	ORPHA:798
HP:4000059	Abnormal lung development	29980	DONSON	OMIM:251230
HP:4000059	Abnormal lung development	26227	PHGDH	OMIM:256520
HP:4000059	Abnormal lung development	2316	FLNA	ORPHA:90652
HP:4000059	Abnormal lung development	55605	KIF21A	ORPHA:994
HP:4000059	Abnormal lung development	4927	NUP88	ORPHA:994
HP:4000059	Abnormal lung development	7846	TUBA1A	ORPHA:994
HP:4000059	Abnormal lung development	4654	MYOD1	ORPHA:994
HP:4000059	Abnormal lung development	4654	MYOD1	OMIM:618975
HP:4000059	Abnormal lung development	54551	MAGEL2	ORPHA:994
HP:4000059	Abnormal lung development	4593	MUSK	ORPHA:994
HP:4000059	Abnormal lung development	4593	MUSK	OMIM:208150
HP:4000059	Abnormal lung development	5913	RAPSN	ORPHA:994
HP:4000059	Abnormal lung development	6572	SLC18A3	ORPHA:994
HP:4000059	Abnormal lung development	285489	DOK7	ORPHA:994
HP:4000059	Abnormal lung development	1798	DPAGT1	ORPHA:86309
HP:4000059	Abnormal lung development	1280	COL2A1	OMIM:151210
HP:4000059	Abnormal lung development	1280	COL2A1	ORPHA:85166
HP:4000059	Abnormal lung development	1280	COL2A1	ORPHA:93296
HP:4000059	Abnormal lung development	54880	BCOR	OMIM:309800
HP:4000059	Abnormal lung development	4629	MYH11	OMIM:619351
HP:4000059	Abnormal lung development	5314	PKHD1	OMIM:263200
HP:4000059	Abnormal lung development	5314	PKHD1	ORPHA:731
HP:4000059	Abnormal lung development	29957	SLC25A24	OMIM:612289
HP:4000059	Abnormal lung development	6608	SMO	OMIM:241800
HP:4000059	Abnormal lung development	79770	TXNDC15	OMIM:619879
HP:4000059	Abnormal lung development	5979	RET	ORPHA:1848
HP:4000059	Abnormal lung development	8516	ITGA8	ORPHA:1848
HP:4000059	Abnormal lung development	8516	ITGA8	OMIM:191830
HP:4000059	Abnormal lung development	26281	FGF20	ORPHA:1848
HP:4000059	Abnormal lung development	26281	FGF20	OMIM:615721
HP:4000059	Abnormal lung development	2674	GFRA1	ORPHA:1848
HP:4000059	Abnormal lung development	2674	GFRA1	OMIM:619887
HP:4000059	Abnormal lung development	7484	WNT9B	ORPHA:1848
HP:4000059	Abnormal lung development	80000	GREB1L	ORPHA:1848
HP:4000059	Abnormal lung development	55165	CEP55	OMIM:236500
HP:4000059	Abnormal lung development	4716	NDUFB10	OMIM:619003
HP:4000059	Abnormal lung development	8318	CDC45	OMIM:617063
HP:4000059	Abnormal lung development	5297	PI4KA	OMIM:616531
HP:4000059	Abnormal lung development	5297	PI4KA	OMIM:619708
HP:4000059	Abnormal lung development	27031	NPHP3	OMIM:208540
HP:4000059	Abnormal lung development	27031	NPHP3	ORPHA:3032
HP:4000059	Abnormal lung development	202018	TAPT1	OMIM:616897
HP:4000059	Abnormal lung development	163175	LGI4	OMIM:617468
HP:4000059	Abnormal lung development	9772	TMEM94	OMIM:618316
HP:4000059	Abnormal lung development	388015	RTL1	ORPHA:96334
HP:4000059	Abnormal lung development	8788	DLK1	ORPHA:96334
HP:4000059	Abnormal lung development	55384	MEG3	ORPHA:96334
HP:4000059	Abnormal lung development	199221	DZIP1L	ORPHA:731
HP:4000059	Abnormal lung development	8241	RBM10	ORPHA:2886
HP:4000059	Abnormal lung development	745	MYRF	OMIM:618280
HP:4000059	Abnormal lung development	63895	PIEZO2	OMIM:248700
HP:4000059	Abnormal lung development	126792	B3GALT6	ORPHA:536467
HP:4000059	Abnormal lung development	342035	GLDN	OMIM:617194
HP:4000059	Abnormal lung development	7477	WNT7B	ORPHA:2470
HP:4000059	Abnormal lung development	9786	KIAA0586	OMIM:616546
HP:4000059	Abnormal lung development	4000	LMNA	ORPHA:1662
HP:4000059	Abnormal lung development	10269	ZMPSTE24	ORPHA:1662
HP:4000059	Abnormal lung development	10269	ZMPSTE24	OMIM:275210
HP:4000059	Abnormal lung development	6329	SCN4A	OMIM:620369
HP:4000059	Abnormal lung development	4621	MYH3	ORPHA:2990
HP:4000059	Abnormal lung development	10195	ALG3	ORPHA:79321
HP:4000059	Abnormal lung development	54361	WNT4	OMIM:611812
HP:4000059	Abnormal lung development	54361	WNT4	ORPHA:139466
HP:4000059	Abnormal lung development	26123	TCTN3	ORPHA:2753
HP:4000059	Abnormal lung development	57505	AARS2	OMIM:614096
HP:4000059	Abnormal lung development	54903	MKS1	OMIM:249000
HP:4000059	Abnormal lung development	1496	CTNNA2	OMIM:618174
HP:4000059	Abnormal lung development	27152	INTU	OMIM:617925
HP:4000059	Abnormal lung development	1134	CHRNA1	OMIM:253290
HP:4000059	Abnormal lung development	1144	CHRND	OMIM:253290
HP:4000059	Abnormal lung development	498	ATP5F1A	OMIM:615228
HP:4000059	Abnormal lung development	2110	ETFDH	OMIM:231680
HP:4000059	Abnormal lung development	2108	ETFA	OMIM:231680
HP:4000059	Abnormal lung development	2109	ETFB	OMIM:231680
HP:4000059	Abnormal lung development	90952	ESAM	OMIM:620371
HP:4000059	Abnormal lung development	168667	BMPER	OMIM:608022
HP:4000059	Abnormal lung development	3930	LBR	OMIM:215140
HP:4000059	Abnormal lung development	2737	GLI3	ORPHA:672
HP:4000059	Abnormal lung development	2737	GLI3	OMIM:146510
HP:4000059	Abnormal lung development	2294	FOXF1	OMIM:265380
HP:4000059	Abnormal lung development	6899	TBX1	ORPHA:3384
HP:4000059	Abnormal lung development	6899	TBX1	ORPHA:567
HP:4000059	Abnormal lung development	137814	NKX2-6	ORPHA:3384
HP:4000059	Abnormal lung development	23129	PLXND1	ORPHA:3384
HP:4000059	Abnormal lung development	341640	FREM2	ORPHA:2052
HP:4000059	Abnormal lung development	80144	FRAS1	ORPHA:2052
HP:4000059	Abnormal lung development	23426	GRIP1	ORPHA:2052
HP:4000059	Abnormal lung development	23426	GRIP1	OMIM:617667
HP:4000059	Abnormal lung development	2657	GDF1	OMIM:208530
HP:4000059	Abnormal lung development	2187	FANCB	OMIM:300514
HP:4000059	Abnormal lung development	51604	PIGT	ORPHA:369837
HP:4000059	Abnormal lung development	284086	NEK8	OMIM:615415
HP:4000059	Abnormal lung development	1312	COMT	ORPHA:567
HP:4000059	Abnormal lung development	221037	JMJD1C	ORPHA:567
HP:4000059	Abnormal lung development	2812	GP1BB	ORPHA:567
HP:4000059	Abnormal lung development	6239	RREB1	ORPHA:567
HP:4000059	Abnormal lung development	7290	HIRA	ORPHA:567
HP:4000059	Abnormal lung development	9632	SEC24C	ORPHA:567
HP:4000059	Abnormal lung development	7353	UFD1	ORPHA:567
HP:4000059	Abnormal lung development	421	ARVCF	ORPHA:567
HP:4000059	Abnormal lung development	7473	WNT3	ORPHA:3301
HP:4000059	Abnormal lung development	340419	RSPO2	ORPHA:3301
HP:4000059	Abnormal lung development	9496	TBX4	ORPHA:3301
HP:4000059	Abnormal lung development	219844	HYLS1	OMIM:236680
HP:4000059	Abnormal lung development	207	AKT1	ORPHA:744
HP:4000059	Abnormal lung development	22827	PUF60	ORPHA:508488
HP:4000059	Abnormal lung development	1717	DHCR7	OMIM:270400
HP:4000059	Abnormal lung development	1717	DHCR7	ORPHA:818
HP:4000059	Abnormal lung development	79796	ALG9	ORPHA:79328
HP:4000059	Abnormal lung development	79796	ALG9	OMIM:263210
HP:4000059	Abnormal lung development	7490	WT1	ORPHA:3097
HP:4000059	Abnormal lung development	9184	BUB3	ORPHA:1052
HP:4000059	Abnormal lung development	699	BUB1	ORPHA:1052
HP:4000059	Abnormal lung development	9702	CEP57	ORPHA:1052
HP:4000059	Abnormal lung development	9702	CEP57	OMIM:614114
HP:4000059	Abnormal lung development	9319	TRIP13	ORPHA:1052
HP:4000059	Abnormal lung development	701	BUB1B	ORPHA:1052
HP:4000059	Abnormal lung development	10436	EMG1	ORPHA:1270
HP:4000059	Abnormal lung development	2719	GPC3	OMIM:312870
HP:4000059	Abnormal lung development	2239	GPC4	OMIM:312870
HP:4000059	Abnormal lung development	54487	DGCR8	OMIM:192430
HP:4000059	Abnormal lung development	8214	DGCR6	OMIM:192430
HP:4000059	Abnormal lung development	8220	ESS2	OMIM:192430
HP:4000059	Abnormal lung development	9993	DGCR2	OMIM:192430
HP:4000059	Abnormal lung development	9851	KIAA0753	ORPHA:474
HP:4000059	Abnormal lung development	55112	DYNC2I1	ORPHA:474
HP:4000059	Abnormal lung development	26160	IFT172	ORPHA:474
HP:4000059	Abnormal lung development	153241	CEP120	ORPHA:474
HP:4000059	Abnormal lung development	57560	IFT80	ORPHA:474
HP:4000059	Abnormal lung development	51626	DYNC2LI1	ORPHA:474
HP:4000059	Abnormal lung development	51626	DYNC2LI1	ORPHA:289
HP:4000059	Abnormal lung development	79659	DYNC2H1	ORPHA:474
HP:4000059	Abnormal lung development	9742	IFT140	ORPHA:474
HP:4000059	Abnormal lung development	57728	WDR19	ORPHA:474
HP:4000059	Abnormal lung development	89891	DYNC2I2	ORPHA:474
HP:4000059	Abnormal lung development	79809	TTC21B	ORPHA:474
HP:4000059	Abnormal lung development	27238	GPKOW	ORPHA:2570
HP:4000059	Abnormal lung development	64840	PORCN	ORPHA:2092
HP:4000059	Abnormal lung development	59341	TRPV4	ORPHA:2635
HP:4000059	Abnormal lung development	2261	FGFR3	ORPHA:1860
HP:4000059	Abnormal lung development	2261	FGFR3	ORPHA:93274
HP:4000059	Abnormal lung development	2317	FLNB	ORPHA:1263
HP:4000059	Abnormal lung development	1836	SLC26A2	ORPHA:93298
HP:4000059	Abnormal lung development	9321	TRIP11	ORPHA:93299
HP:4000059	Abnormal lung development	1131	CHRM3	ORPHA:2970
HP:4000059	Abnormal lung development	3239	HOXD13	ORPHA:887
HP:4000059	Abnormal lung development	5566	PRKACA	ORPHA:289
HP:4000059	Abnormal lung development	5567	PRKACB	ORPHA:289
HP:4000059	Abnormal lung development	2735	GLI1	ORPHA:289
HP:4000059	Abnormal lung development	2121	EVC	ORPHA:289
HP:4000059	Abnormal lung development	132884	EVC2	ORPHA:289
HP:4000059	Abnormal lung development	10815	CPLX1	ORPHA:280
HP:4000059	Abnormal lung development	54872	PIGG	ORPHA:280
HP:4000059	Abnormal lung development	7469	NELFA	ORPHA:280
HP:4000059	Abnormal lung development	1487	CTBP1	ORPHA:280
HP:4000059	Abnormal lung development	3954	LETM1	ORPHA:280
HP:4000059	Abnormal lung development	7468	NSD2	ORPHA:280
HP:4000059	Abnormal lung development	25981	DNAH1	ORPHA:244
HP:4000059	Abnormal lung development	115948	ODAD3	ORPHA:244
HP:4000059	Abnormal lung development	54768	HYDIN	ORPHA:244
HP:4000059	Abnormal lung development	352909	DNAAF3	ORPHA:244
HP:4000059	Abnormal lung development	27148	STK36	ORPHA:244
HP:4000059	Abnormal lung development	51314	NME8	ORPHA:244
HP:4000059	Abnormal lung development	92749	DRC1	ORPHA:244
HP:4000059	Abnormal lung development	54970	TTC12	ORPHA:244
HP:4000059	Abnormal lung development	152110	NEK10	ORPHA:244
HP:4000059	Abnormal lung development	8481	OFD1	ORPHA:244
HP:4000059	Abnormal lung development	2302	FOXJ1	ORPHA:244
HP:4000059	Abnormal lung development	221421	RSPH9	ORPHA:244
HP:4000059	Abnormal lung development	85478	CCDC65	ORPHA:244
HP:4000059	Abnormal lung development	55036	CCDC40	ORPHA:244
HP:4000059	Abnormal lung development	51364	ZMYND10	ORPHA:244
HP:4000059	Abnormal lung development	64446	DNAI2	ORPHA:244
HP:4000059	Abnormal lung development	8382	NME5	ORPHA:244
HP:4000059	Abnormal lung development	6674	SPAG1	ORPHA:244
HP:4000059	Abnormal lung development	83544	DNAL1	ORPHA:244
HP:4000059	Abnormal lung development	89765	RSPH1	ORPHA:244
HP:4000059	Abnormal lung development	83538	ODAD4	ORPHA:244
HP:4000059	Abnormal lung development	200373	CFAP221	ORPHA:244
HP:4000059	Abnormal lung development	374407	DNAJB13	ORPHA:244
HP:4000059	Abnormal lung development	55172	DNAAF2	ORPHA:244
HP:4000059	Abnormal lung development	161582	DNAAF4	ORPHA:244
HP:4000059	Abnormal lung development	2622	GAS8	ORPHA:244
HP:4000059	Abnormal lung development	23639	DNAAF11	ORPHA:244
HP:4000059	Abnormal lung development	27019	DNAI1	ORPHA:244
HP:4000059	Abnormal lung development	345895	RSPH4A	ORPHA:244
HP:4000059	Abnormal lung development	54919	DNAAF5	ORPHA:244
HP:4000059	Abnormal lung development	6103	RPGR	ORPHA:244
HP:4000059	Abnormal lung development	85452	CFAP74	ORPHA:244
HP:4000059	Abnormal lung development	93233	ODAD1	ORPHA:244
HP:4000059	Abnormal lung development	55130	ODAD2	ORPHA:244
HP:4000059	Abnormal lung development	1767	DNAH5	ORPHA:244
HP:4000059	Abnormal lung development	83861	RSPH3	ORPHA:244
HP:4000059	Abnormal lung development	345643	MCIDAS	ORPHA:244
HP:4000059	Abnormal lung development	56683	CFAP298	ORPHA:244
HP:4000059	Abnormal lung development	79925	SPEF2	ORPHA:244
HP:4000059	Abnormal lung development	10309	CCNO	ORPHA:244
HP:4000059	Abnormal lung development	115399	LRRC56	ORPHA:244
HP:4000059	Abnormal lung development	139212	DNAAF6	ORPHA:244
HP:4000059	Abnormal lung development	123872	DNAAF1	ORPHA:244
HP:4000059	Abnormal lung development	85016	CFAP300	ORPHA:244
HP:4000059	Abnormal lung development	339829	CCDC39	ORPHA:244
HP:4000059	Abnormal lung development	8701	DNAH11	ORPHA:244
HP:4000059	Abnormal lung development	1770	DNAH9	ORPHA:244
HP:4000059	Abnormal lung development	246176	GAS2L2	ORPHA:244
HP:4000059	Abnormal lung development	7547	ZIC3	OMIM:306955
HP:4000059	Abnormal lung development	1147	CHUK	OMIM:613630
HP:4000059	Abnormal lung development	4838	NODAL	OMIM:270100
HP:4000059	Abnormal lung development	6651	SON	OMIM:617140
HP:4000059	Abnormal lung development	6651	SON	ORPHA:500150
HP:4000059	Abnormal lung development	57545	CC2D2A	OMIM:612284
HP:4000059	Abnormal lung development	83871	RAB34	OMIM:620718
HP:4000059	Abnormal lung development	4212	MEIS2	OMIM:600987
HP:4000059	Abnormal lung development	56980	PRDM10	ORPHA:122
HP:4000059	Abnormal lung development	201163	FLCN	ORPHA:122
HP:4000059	Abnormal lung development	1523	CUX1	OMIM:618330
HP:4000060	Abnormal pulmonary alveolar system development	2294	FOXF1	OMIM:265380
HP:4000060	Abnormal pulmonary alveolar system development	64220	STRA6	OMIM:601186
HP:4000061	Pancreatic alpha-cell hyperplasia	2642	GCGR	OMIM:619290
HP:4000066	Abnormal iliac artery morphology	4907	NT5E	OMIM:211800
HP:4000066	Abnormal iliac artery morphology	10526	IPO8	OMIM:619472
HP:4000067	Iliac artery aneurysm	10526	IPO8	OMIM:619472
HP:4000070	Fixated interests	51111	KMT5B	OMIM:617788
HP:4000070	Fixated interests	64864	RFX7	OMIM:620330
HP:4000072	Abnormal language feature	55703	POLR3B	OMIM:614381
HP:4000072	Abnormal language feature	55703	POLR3B	OMIM:619742
HP:4000072	Abnormal language feature	51256	TBC1D7	OMIM:248000
HP:4000072	Abnormal language feature	340533	NEXMIF	OMIM:300912
HP:4000072	Abnormal language feature	340533	NEXMIF	ORPHA:1942
HP:4000072	Abnormal language feature	23135	KDM6B	OMIM:618505
HP:4000072	Abnormal language feature	6659	SOX4	OMIM:618506
HP:4000072	Abnormal language feature	84334	COA8	ORPHA:436271
HP:4000072	Abnormal language feature	84334	COA8	OMIM:619061
HP:4000072	Abnormal language feature	81570	CLPB	OMIM:619835
HP:4000072	Abnormal language feature	5457	POU4F1	ORPHA:314647
HP:4000072	Abnormal language feature	23261	CAMTA1	ORPHA:314647
HP:4000072	Abnormal language feature	23261	CAMTA1	OMIM:614756
HP:4000072	Abnormal language feature	10159	ATP6AP2	ORPHA:93952
HP:4000072	Abnormal language feature	10159	ATP6AP2	OMIM:300423
HP:4000072	Abnormal language feature	55209	SETD5	ORPHA:404440
HP:4000072	Abnormal language feature	55209	SETD5	OMIM:615761
HP:4000072	Abnormal language feature	4125	MAN2B1	ORPHA:309282
HP:4000072	Abnormal language feature	4125	MAN2B1	ORPHA:309288
HP:4000072	Abnormal language feature	24137	KIF4A	OMIM:300923
HP:4000072	Abnormal language feature	57589	RIC1	ORPHA:199306
HP:4000072	Abnormal language feature	1739	DLG1	ORPHA:199306
HP:4000072	Abnormal language feature	999	CDH1	ORPHA:199306
HP:4000072	Abnormal language feature	5156	PDGFRA	ORPHA:199306
HP:4000072	Abnormal language feature	3664	IRF6	ORPHA:199306
HP:4000072	Abnormal language feature	1748	DLX4	ORPHA:199306
HP:4000072	Abnormal language feature	4487	MSX1	ORPHA:199306
HP:4000072	Abnormal language feature	652	BMP4	ORPHA:199306
HP:4000072	Abnormal language feature	8626	TP63	ORPHA:199306
HP:4000072	Abnormal language feature	22837	COBLL1	ORPHA:199306
HP:4000072	Abnormal language feature	54848	ARHGEF38	ORPHA:199306
HP:4000072	Abnormal language feature	9411	ARHGAP29	ORPHA:199306
HP:4000072	Abnormal language feature	8942	KYNU	OMIM:617661
HP:4000072	Abnormal language feature	283489	CHAMP1	OMIM:616579
HP:4000072	Abnormal language feature	27245	AHDC1	ORPHA:412069
HP:4000072	Abnormal language feature	27245	AHDC1	OMIM:615829
HP:4000072	Abnormal language feature	55690	PACS1	OMIM:615009
HP:4000072	Abnormal language feature	55690	PACS1	ORPHA:329224
HP:4000072	Abnormal language feature	55904	KMT2E	OMIM:618512
HP:4000072	Abnormal language feature	318	NUDT2	OMIM:619844
HP:4000072	Abnormal language feature	2132	EXT2	ORPHA:466926
HP:4000072	Abnormal language feature	57082	KNL1	OMIM:604321
HP:4000072	Abnormal language feature	55650	PIGV	OMIM:239300
HP:4000072	Abnormal language feature	2192	FBLN1	ORPHA:404451
HP:4000072	Abnormal language feature	2188	FANCF	OMIM:603467
HP:4000072	Abnormal language feature	284403	WDR62	OMIM:604317
HP:4000072	Abnormal language feature	8029	CUBN	ORPHA:35858
HP:4000072	Abnormal language feature	81693	AMN	ORPHA:35858
HP:4000072	Abnormal language feature	7054	TH	OMIM:605407
HP:4000072	Abnormal language feature	7054	TH	ORPHA:101150
HP:4000072	Abnormal language feature	79868	ALG13	ORPHA:324422
HP:4000072	Abnormal language feature	288	ANK3	OMIM:615493
HP:4000072	Abnormal language feature	288	ANK3	ORPHA:356996
HP:4000072	Abnormal language feature	818	CAMK2G	OMIM:618522
HP:4000072	Abnormal language feature	55154	MSTO1	OMIM:617675
HP:4000072	Abnormal language feature	55154	MSTO1	ORPHA:502423
HP:4000072	Abnormal language feature	64359	NXN	OMIM:618529
HP:4000072	Abnormal language feature	7436	VLDLR	OMIM:224050
HP:4000072	Abnormal language feature	2770	GNAI1	OMIM:619854
HP:4000072	Abnormal language feature	4091	SMAD6	OMIM:617439
HP:4000072	Abnormal language feature	85465	SELENOI	OMIM:618768
HP:4000072	Abnormal language feature	5528	PPP2R5D	OMIM:616355
HP:4000072	Abnormal language feature	5528	PPP2R5D	ORPHA:457279
HP:4000072	Abnormal language feature	57231	SNX14	OMIM:616354
HP:4000072	Abnormal language feature	57231	SNX14	ORPHA:397709
HP:4000072	Abnormal language feature	23327	NEDD4L	OMIM:617201
HP:4000072	Abnormal language feature	5833	PCYT2	OMIM:618770
HP:4000072	Abnormal language feature	3340	NDST1	OMIM:616116
HP:4000072	Abnormal language feature	11193	WBP4	OMIM:620852
HP:4000072	Abnormal language feature	6602	SMARCD1	OMIM:618779
HP:4000072	Abnormal language feature	26834	RNU4-2	OMIM:620851
HP:4000072	Abnormal language feature	5373	PMM2	OMIM:212065
HP:4000072	Abnormal language feature	5373	PMM2	ORPHA:79318
HP:4000072	Abnormal language feature	8493	PPM1D	OMIM:617450
HP:4000072	Abnormal language feature	26038	CHD5	OMIM:619873
HP:4000072	Abnormal language feature	55621	TRMT1	OMIM:618302
HP:4000072	Abnormal language feature	23126	POGZ	OMIM:616364
HP:4000072	Abnormal language feature	23126	POGZ	ORPHA:468678
HP:4000072	Abnormal language feature	55773	TBC1D23	OMIM:617695
HP:4000072	Abnormal language feature	8558	CDK10	OMIM:617694
HP:4000072	Abnormal language feature	51633	OTUD6B	OMIM:617452
HP:4000072	Abnormal language feature	9354	UBE4A	OMIM:619639
HP:4000072	Abnormal language feature	55280	CWF19L1	OMIM:616127
HP:4000072	Abnormal language feature	55280	CWF19L1	ORPHA:453521
HP:4000072	Abnormal language feature	3098	HK1	OMIM:618547
HP:4000072	Abnormal language feature	1859	DYRK1A	ORPHA:464311
HP:4000072	Abnormal language feature	1859	DYRK1A	OMIM:614104
HP:4000072	Abnormal language feature	79718	TBL1XR1	OMIM:602342
HP:4000072	Abnormal language feature	5621	PRNP	ORPHA:157941
HP:4000072	Abnormal language feature	2232	FDXR	ORPHA:543470
HP:4000072	Abnormal language feature	200424	TET3	OMIM:618798
HP:4000072	Abnormal language feature	2620	GAS2	OMIM:620877
HP:4000072	Abnormal language feature	111	ADCY5	OMIM:619647
HP:4000072	Abnormal language feature	111	ADCY5	OMIM:619651
HP:4000072	Abnormal language feature	9772	TMEM94	OMIM:618316
HP:4000072	Abnormal language feature	79971	WLS	OMIM:619648
HP:4000072	Abnormal language feature	9711	RUBCN	ORPHA:404499
HP:4000072	Abnormal language feature	9711	RUBCN	OMIM:615705
HP:4000072	Abnormal language feature	4208	MEF2C	ORPHA:228384
HP:4000072	Abnormal language feature	5981	RFC1	ORPHA:504476
HP:4000072	Abnormal language feature	55739	NAXD	OMIM:618321
HP:4000072	Abnormal language feature	7143	TNR	OMIM:619653
HP:4000072	Abnormal language feature	374969	SVBP	OMIM:618569
HP:4000072	Abnormal language feature	51322	WAC	ORPHA:466950
HP:4000072	Abnormal language feature	51322	WAC	ORPHA:284169
HP:4000072	Abnormal language feature	51322	WAC	OMIM:616708
HP:4000072	Abnormal language feature	2778	GNAS	ORPHA:79445
HP:4000072	Abnormal language feature	25970	SH2B1	ORPHA:261197
HP:4000072	Abnormal language feature	25970	SH2B1	ORPHA:261222
HP:4000072	Abnormal language feature	25970	SH2B1	ORPHA:329249
HP:4000072	Abnormal language feature	2033	EP300	OMIM:618333
HP:4000072	Abnormal language feature	2033	EP300	OMIM:613684
HP:4000072	Abnormal language feature	2033	EP300	ORPHA:353284
HP:4000072	Abnormal language feature	2033	EP300	OMIM:180849
HP:4000072	Abnormal language feature	10533	ATG7	OMIM:619422
HP:4000072	Abnormal language feature	1523	CUX1	OMIM:618330
HP:4000072	Abnormal language feature	120	ADD3	OMIM:617008
HP:4000072	Abnormal language feature	171546	SPTSSA	OMIM:620416
HP:4000072	Abnormal language feature	4212	MEIS2	ORPHA:261190
HP:4000072	Abnormal language feature	5908	RAP1B	OMIM:620654
HP:4000072	Abnormal language feature	6443	SGCB	ORPHA:119
HP:4000072	Abnormal language feature	835	CASP2	OMIM:620653
HP:4000072	Abnormal language feature	5813	PURA	ORPHA:314655
HP:4000072	Abnormal language feature	435	ASL	ORPHA:23
HP:4000072	Abnormal language feature	9949	AMMECR1	OMIM:300990
HP:4000072	Abnormal language feature	57526	PCDH19	ORPHA:101039
HP:4000072	Abnormal language feature	695	BTK	OMIM:300755
HP:4000072	Abnormal language feature	6134	RPL10	OMIM:300998
HP:4000072	Abnormal language feature	6134	RPL10	ORPHA:459070
HP:4000072	Abnormal language feature	1281	COL3A1	OMIM:618343
HP:4000072	Abnormal language feature	160418	TMTC3	OMIM:617255
HP:4000072	Abnormal language feature	123606	NIPA1	ORPHA:261183
HP:4000072	Abnormal language feature	7283	TUBG1	ORPHA:261183
HP:4000072	Abnormal language feature	81614	NIPA2	ORPHA:261183
HP:4000072	Abnormal language feature	54517	PUS7	OMIM:618342
HP:4000072	Abnormal language feature	10765	KDM5B	OMIM:618109
HP:4000072	Abnormal language feature	2495	FTH1	OMIM:620669
HP:4000072	Abnormal language feature	54973	INTS11	OMIM:620428
HP:4000072	Abnormal language feature	10785	WDR4	OMIM:618347
HP:4000072	Abnormal language feature	4967	OGDH	OMIM:203740
HP:4000072	Abnormal language feature	57122	NUP107	OMIM:618348
HP:4000072	Abnormal language feature	57122	NUP107	OMIM:616730
HP:4000072	Abnormal language feature	6418	SET	OMIM:618106
HP:4000072	Abnormal language feature	56623	INPP5E	OMIM:213300
HP:4000072	Abnormal language feature	56623	INPP5E	ORPHA:75858
HP:4000072	Abnormal language feature	56623	INPP5E	OMIM:610156
HP:4000072	Abnormal language feature	253738	EBF3	ORPHA:96148
HP:4000072	Abnormal language feature	253738	EBF3	OMIM:617330
HP:4000072	Abnormal language feature	90459	ERI1	OMIM:620663
HP:4000072	Abnormal language feature	90459	ERI1	OMIM:620662
HP:4000072	Abnormal language feature	50814	NSDHL	ORPHA:251383
HP:4000072	Abnormal language feature	50814	NSDHL	OMIM:300831
HP:4000072	Abnormal language feature	100033413	SNORD116-1	OMIM:176270
HP:4000072	Abnormal language feature	8924	HERC2	OMIM:176270
HP:4000072	Abnormal language feature	8924	HERC2	OMIM:615516
HP:4000072	Abnormal language feature	23742	NPAP1	OMIM:176270
HP:4000072	Abnormal language feature	338433	SNORD115-1	OMIM:176270
HP:4000072	Abnormal language feature	54551	MAGEL2	OMIM:176270
HP:4000072	Abnormal language feature	54551	MAGEL2	ORPHA:398069
HP:4000072	Abnormal language feature	54551	MAGEL2	OMIM:615547
HP:4000072	Abnormal language feature	7681	MKRN3	OMIM:176270
HP:4000072	Abnormal language feature	145624	PWAR1	OMIM:176270
HP:4000072	Abnormal language feature	3653	IPW	OMIM:176270
HP:4000072	Abnormal language feature	791114	PWRN1	OMIM:176270
HP:4000072	Abnormal language feature	1120	CHKB	OMIM:602541
HP:4000072	Abnormal language feature	5575	PRKAR1B	OMIM:619680
HP:4000072	Abnormal language feature	3712	IVD	ORPHA:33
HP:4000072	Abnormal language feature	5515	PPP2CA	OMIM:618354
HP:4000072	Abnormal language feature	6096	RORB	OMIM:618357
HP:4000072	Abnormal language feature	112755	STX1B	OMIM:616172
HP:4000072	Abnormal language feature	116461	TSEN15	OMIM:617026
HP:4000072	Abnormal language feature	55262	TRAPPC14	OMIM:618351
HP:4000072	Abnormal language feature	6492	SIM1	ORPHA:171829
HP:4000072	Abnormal language feature	6492	SIM1	ORPHA:398079
HP:4000072	Abnormal language feature	23043	TNIK	OMIM:617028
HP:4000072	Abnormal language feature	23524	SRRM2	OMIM:620439
HP:4000072	Abnormal language feature	4784	NFIX	OMIM:602535
HP:4000072	Abnormal language feature	4784	NFIX	ORPHA:447980
HP:4000072	Abnormal language feature	4784	NFIX	OMIM:614753
HP:4000072	Abnormal language feature	55250	ELP2	OMIM:617270
HP:4000072	Abnormal language feature	84340	GFM2	ORPHA:565624
HP:4000072	Abnormal language feature	84340	GFM2	OMIM:618397
HP:4000072	Abnormal language feature	8888	MCM3AP	OMIM:618124
HP:4000072	Abnormal language feature	51132	RLIM	OMIM:300978
HP:4000072	Abnormal language feature	10588	MTHFS	OMIM:618367
HP:4000072	Abnormal language feature	2334	AFF2	OMIM:309548
HP:4000072	Abnormal language feature	2334	AFF2	ORPHA:100973
HP:4000072	Abnormal language feature	24140	FTSJ1	OMIM:309549
HP:4000072	Abnormal language feature	6601	SMARCC2	OMIM:618362
HP:4000072	Abnormal language feature	513	ATP5F1D	OMIM:618120
HP:4000072	Abnormal language feature	92255	LMBRD2	OMIM:619694
HP:4000072	Abnormal language feature	27341	RRP7A	OMIM:619453
HP:4000072	Abnormal language feature	2019	EN1	OMIM:619218
HP:4000072	Abnormal language feature	9675	TTI1	OMIM:620445
HP:4000072	Abnormal language feature	3183	HNRNPC	OMIM:620688
HP:4000072	Abnormal language feature	549	AUH	OMIM:250950
HP:4000072	Abnormal language feature	549	AUH	ORPHA:67046
HP:4000072	Abnormal language feature	5805	PTS	ORPHA:13
HP:4000072	Abnormal language feature	80311	KLHL15	OMIM:300982
HP:4000072	Abnormal language feature	56776	FMN2	OMIM:616193
HP:4000072	Abnormal language feature	23111	SPART	ORPHA:101000
HP:4000072	Abnormal language feature	2068	ERCC2	OMIM:601675
HP:4000072	Abnormal language feature	1760	DMPK	ORPHA:589821
HP:4000072	Abnormal language feature	7086	TKT	OMIM:617044
HP:4000072	Abnormal language feature	7086	TKT	ORPHA:488618
HP:4000072	Abnormal language feature	6390	SDHB	OMIM:619224
HP:4000072	Abnormal language feature	84892	POMGNT2	OMIM:618135
HP:4000072	Abnormal language feature	63931	MRPS14	OMIM:618378
HP:4000072	Abnormal language feature	164	AP1G1	OMIM:619467
HP:4000072	Abnormal language feature	164	AP1G1	OMIM:619548
HP:4000072	Abnormal language feature	9757	KMT2B	OMIM:617284
HP:4000072	Abnormal language feature	9758	FRMPD4	OMIM:300983
HP:4000072	Abnormal language feature	7253	TSHR	OMIM:609152
HP:4000072	Abnormal language feature	6304	SATB1	OMIM:619228
HP:4000072	Abnormal language feature	6304	SATB1	OMIM:619229
HP:4000072	Abnormal language feature	1974	EIF4A2	OMIM:620455
HP:4000072	Abnormal language feature	220296	HEPACAM	OMIM:613925
HP:4000072	Abnormal language feature	220296	HEPACAM	OMIM:613926
HP:4000072	Abnormal language feature	220296	HEPACAM	ORPHA:210548
HP:4000072	Abnormal language feature	6874	TAF4	OMIM:620450
HP:4000072	Abnormal language feature	79736	TEFM	OMIM:620451
HP:4000072	Abnormal language feature	3028	HSD17B10	ORPHA:391428
HP:4000072	Abnormal language feature	3028	HSD17B10	OMIM:300438
HP:4000072	Abnormal language feature	50801	KCNK4	OMIM:618381
HP:4000072	Abnormal language feature	84065	TMEM222	OMIM:619470
HP:4000072	Abnormal language feature	11212	PLPBP	OMIM:617290
HP:4000072	Abnormal language feature	55697	VAC14	OMIM:617054
HP:4000072	Abnormal language feature	57498	KIDINS220	OMIM:617296
HP:4000072	Abnormal language feature	8812	CCNK	OMIM:618147
HP:4000072	Abnormal language feature	57187	THOC2	OMIM:300957
HP:4000072	Abnormal language feature	57187	THOC2	ORPHA:457240
HP:4000072	Abnormal language feature	9851	KIAA0753	OMIM:619479
HP:4000072	Abnormal language feature	27107	ZBTB11	OMIM:618383
HP:4000072	Abnormal language feature	2892	GRIA3	ORPHA:364028
HP:4000072	Abnormal language feature	7737	RNF113A	OMIM:300953
HP:4000072	Abnormal language feature	4361	MRE11	ORPHA:251347
HP:4000072	Abnormal language feature	4361	MRE11	OMIM:604391
HP:4000072	Abnormal language feature	8452	CUL3	OMIM:619239
HP:4000072	Abnormal language feature	527	ATP6V0C	OMIM:620465
HP:4000072	Abnormal language feature	80036	TRPM3	OMIM:620224
HP:4000072	Abnormal language feature	10283	CWC27	ORPHA:166035
HP:4000072	Abnormal language feature	10283	CWC27	OMIM:250410
HP:4000072	Abnormal language feature	388015	RTL1	ORPHA:96184
HP:4000072	Abnormal language feature	388015	RTL1	ORPHA:254531
HP:4000072	Abnormal language feature	388015	RTL1	ORPHA:254525
HP:4000072	Abnormal language feature	8788	DLK1	ORPHA:96184
HP:4000072	Abnormal language feature	8788	DLK1	ORPHA:254531
HP:4000072	Abnormal language feature	8788	DLK1	ORPHA:254525
HP:4000072	Abnormal language feature	55384	MEG3	ORPHA:96184
HP:4000072	Abnormal language feature	55384	MEG3	ORPHA:254531
HP:4000072	Abnormal language feature	55384	MEG3	ORPHA:254525
HP:4000072	Abnormal language feature	11198	SUPT16H	OMIM:619480
HP:4000072	Abnormal language feature	11198	SUPT16H	ORPHA:261229
HP:4000072	Abnormal language feature	2887	GRB10	ORPHA:96182
HP:4000072	Abnormal language feature	25839	COG4	OMIM:618150
HP:4000072	Abnormal language feature	1457	CSNK2A1	OMIM:617062
HP:4000072	Abnormal language feature	7204	TRIO	OMIM:617061
HP:4000072	Abnormal language feature	7204	TRIO	OMIM:618825
HP:4000072	Abnormal language feature	100147744	RNU7-1	OMIM:619487
HP:4000072	Abnormal language feature	203068	TUBB	OMIM:156610
HP:4000072	Abnormal language feature	203068	TUBB	OMIM:615771
HP:4000072	Abnormal language feature	6872	TAF1	OMIM:300966
HP:4000072	Abnormal language feature	6872	TAF1	ORPHA:480907
HP:4000072	Abnormal language feature	8567	MADD	OMIM:619004
HP:4000072	Abnormal language feature	8567	MADD	OMIM:619005
HP:4000072	Abnormal language feature	4841	NONO	OMIM:300967
HP:4000072	Abnormal language feature	4841	NONO	ORPHA:466791
HP:4000072	Abnormal language feature	5058	PAK1	OMIM:618158
HP:4000072	Abnormal language feature	8239	USP9X	OMIM:300968
HP:4000072	Abnormal language feature	57477	SHROOM4	ORPHA:85288
HP:4000072	Abnormal language feature	23067	SETD1B	OMIM:619000
HP:4000072	Abnormal language feature	23112	TNRC6B	OMIM:619243
HP:4000072	Abnormal language feature	91875	TTC5	OMIM:619244
HP:4000072	Abnormal language feature	9373	PLAA	ORPHA:521426
HP:4000072	Abnormal language feature	9373	PLAA	OMIM:617527
HP:4000072	Abnormal language feature	10681	GNB5	ORPHA:542306
HP:4000072	Abnormal language feature	10681	GNB5	OMIM:617173
HP:4000072	Abnormal language feature	10681	GNB5	OMIM:617182
HP:4000072	Abnormal language feature	5625	PRODH	OMIM:239500
HP:4000072	Abnormal language feature	2799	GNS	OMIM:252940
HP:4000072	Abnormal language feature	23387	SIK3	OMIM:618162
HP:4000072	Abnormal language feature	8242	KDM5C	ORPHA:85279
HP:4000072	Abnormal language feature	8242	KDM5C	OMIM:300534
HP:4000072	Abnormal language feature	1315	COPB1	OMIM:619255
HP:4000072	Abnormal language feature	27316	RBMX	ORPHA:85286
HP:4000072	Abnormal language feature	284058	KANSL1	OMIM:610443
HP:4000072	Abnormal language feature	284058	KANSL1	ORPHA:363958
HP:4000072	Abnormal language feature	284058	KANSL1	ORPHA:363965
HP:4000072	Abnormal language feature	81615	TMEM163	OMIM:620243
HP:4000072	Abnormal language feature	51082	POLR1D	OMIM:613717
HP:4000072	Abnormal language feature	51082	POLR1D	ORPHA:861
HP:4000072	Abnormal language feature	10079	ATP9A	OMIM:620242
HP:4000072	Abnormal language feature	2801	GOLGA2	OMIM:620240
HP:4000072	Abnormal language feature	284361	EMC10	OMIM:619264
HP:4000072	Abnormal language feature	170302	ARX	OMIM:309510
HP:4000072	Abnormal language feature	170302	ARX	ORPHA:94083
HP:4000072	Abnormal language feature	8398	PLA2G6	OMIM:610217
HP:4000072	Abnormal language feature	8398	PLA2G6	OMIM:256600
HP:4000072	Abnormal language feature	8398	PLA2G6	ORPHA:35069
HP:4000072	Abnormal language feature	55294	FBXW7	OMIM:620012
HP:4000072	Abnormal language feature	9898	UBAP2L	OMIM:620494
HP:4000072	Abnormal language feature	8085	KMT2D	OMIM:147920
HP:4000072	Abnormal language feature	8085	KMT2D	OMIM:620186
HP:4000072	Abnormal language feature	7403	KDM6A	OMIM:147920
HP:4000072	Abnormal language feature	9131	AIFM1	ORPHA:238329
HP:4000072	Abnormal language feature	6095	RORA	OMIM:618060
HP:4000072	Abnormal language feature	5138	PDE2A	OMIM:619150
HP:4000072	Abnormal language feature	6535	SLC6A8	OMIM:300352
HP:4000072	Abnormal language feature	6535	SLC6A8	ORPHA:52503
HP:4000072	Abnormal language feature	26960	NBEA	OMIM:619157
HP:4000072	Abnormal language feature	23241	PACS2	OMIM:618067
HP:4000072	Abnormal language feature	23241	PACS2	ORPHA:442835
HP:4000072	Abnormal language feature	10466	COG5	OMIM:613612
HP:4000072	Abnormal language feature	10466	COG5	ORPHA:263487
HP:4000072	Abnormal language feature	123263	MTFMT	OMIM:614947
HP:4000072	Abnormal language feature	340990	OTOG	OMIM:614945
HP:4000072	Abnormal language feature	51343	FZR1	OMIM:620145
HP:4000072	Abnormal language feature	51343	FZR1	ORPHA:442835
HP:4000072	Abnormal language feature	9839	ZEB2	OMIM:235730
HP:4000072	Abnormal language feature	10093	ARPC4	OMIM:620141
HP:4000072	Abnormal language feature	5447	POR	ORPHA:95699
HP:4000072	Abnormal language feature	80232	WDR26	ORPHA:513456
HP:4000072	Abnormal language feature	3199	HOXA2	ORPHA:83463
HP:4000072	Abnormal language feature	4010	LMX1B	ORPHA:495818
HP:4000072	Abnormal language feature	6812	STXBP1	ORPHA:495818
HP:4000072	Abnormal language feature	6812	STXBP1	ORPHA:599373
HP:4000072	Abnormal language feature	80055	PGAP1	OMIM:615802
HP:4000072	Abnormal language feature	55780	ERMARD	ORPHA:75857
HP:4000072	Abnormal language feature	55780	ERMARD	OMIM:615544
HP:4000072	Abnormal language feature	9382	COG1	OMIM:611209
HP:4000072	Abnormal language feature	4001	LMNB1	OMIM:619179
HP:4000072	Abnormal language feature	64324	NSD1	OMIM:117550
HP:4000072	Abnormal language feature	8913	CACNA1G	OMIM:618087
HP:4000072	Abnormal language feature	80204	FBXO11	OMIM:618089
HP:4000072	Abnormal language feature	93627	TBCK	OMIM:616900
HP:4000072	Abnormal language feature	93627	TBCK	ORPHA:488632
HP:4000072	Abnormal language feature	80254	CEP63	OMIM:614728
HP:4000072	Abnormal language feature	23325	WASHC4	OMIM:615817
HP:4000072	Abnormal language feature	56984	PSMG2	OMIM:619183
HP:4000072	Abnormal language feature	57531	HACE1	ORPHA:464282
HP:4000072	Abnormal language feature	80856	LNPK	OMIM:618090
HP:4000072	Abnormal language feature	84823	LMNB2	OMIM:619180
HP:4000072	Abnormal language feature	64919	BCL11B	OMIM:618092
HP:4000072	Abnormal language feature	23036	ZNF292	OMIM:619188
HP:4000072	Abnormal language feature	23545	ATP6V0A2	OMIM:278250
HP:4000072	Abnormal language feature	23545	ATP6V0A2	ORPHA:2834
HP:4000072	Abnormal language feature	23545	ATP6V0A2	ORPHA:357074
HP:4000072	Abnormal language feature	23314	SATB2	OMIM:612313
HP:4000072	Abnormal language feature	23314	SATB2	ORPHA:251019
HP:4000072	Abnormal language feature	54872	PIGG	OMIM:616917
HP:4000072	Abnormal language feature	54872	PIGG	ORPHA:488635
HP:4000072	Abnormal language feature	25942	SIN3A	OMIM:613406
HP:4000072	Abnormal language feature	3192	HNRNPU	ORPHA:238769
HP:4000072	Abnormal language feature	9653	HS2ST1	OMIM:619194
HP:4000072	Abnormal language feature	1798	DPAGT1	ORPHA:86309
HP:4000072	Abnormal language feature	10841	FTCD	ORPHA:51208
HP:4000072	Abnormal language feature	2903	GRIN2A	OMIM:245570
HP:4000072	Abnormal language feature	2903	GRIN2A	ORPHA:163721
HP:4000072	Abnormal language feature	5063	PAK3	OMIM:300558
HP:4000072	Abnormal language feature	27286	SRPX2	ORPHA:163721
HP:4000072	Abnormal language feature	27286	SRPX2	ORPHA:98889
HP:4000072	Abnormal language feature	26053	AUTS2	OMIM:615834
HP:4000072	Abnormal language feature	26053	AUTS2	ORPHA:352490
HP:4000072	Abnormal language feature	3211	HOXB1	OMIM:614744
HP:4000072	Abnormal language feature	6507	SLC1A3	ORPHA:2131
HP:4000072	Abnormal language feature	478	ATP1A3	ORPHA:2131
HP:4000072	Abnormal language feature	478	ATP1A3	ORPHA:442835
HP:4000072	Abnormal language feature	84720	PIGO	OMIM:614749
HP:4000072	Abnormal language feature	55343	SLC35C1	OMIM:266265
HP:4000072	Abnormal language feature	283209	PGM2L1	OMIM:620191
HP:4000072	Abnormal language feature	79228	THOC6	ORPHA:363444
HP:4000072	Abnormal language feature	2316	FLNA	OMIM:300321
HP:4000072	Abnormal language feature	23522	KAT6B	ORPHA:85201
HP:4000072	Abnormal language feature	182	JAG1	OMIM:118450
HP:4000072	Abnormal language feature	10472	ZBTB18	OMIM:612337
HP:4000072	Abnormal language feature	34	ACADM	ORPHA:42
HP:4000072	Abnormal language feature	55084	SOBP	OMIM:613671
HP:4000072	Abnormal language feature	27086	FOXP1	OMIM:613670
HP:4000072	Abnormal language feature	27086	FOXP1	ORPHA:391372
HP:4000072	Abnormal language feature	55149	MTPAP	OMIM:613672
HP:4000072	Abnormal language feature	2146	EZH2	OMIM:277590
HP:4000072	Abnormal language feature	81887	LAS1L	OMIM:309585
HP:4000072	Abnormal language feature	10815	CPLX1	ORPHA:352582
HP:4000072	Abnormal language feature	57465	TBC1D24	ORPHA:352582
HP:4000072	Abnormal language feature	6509	SLC1A4	ORPHA:447997
HP:4000072	Abnormal language feature	2776	GNAQ	ORPHA:3205
HP:4000072	Abnormal language feature	226	ALDOA	ORPHA:57
HP:4000072	Abnormal language feature	6567	SLC16A2	ORPHA:59
HP:4000072	Abnormal language feature	5832	ALDH18A1	ORPHA:447760
HP:4000072	Abnormal language feature	22907	DHX30	OMIM:617804
HP:4000072	Abnormal language feature	196528	ARID2	OMIM:617808
HP:4000072	Abnormal language feature	10075	HUWE1	OMIM:309590
HP:4000072	Abnormal language feature	6513	SLC2A1	ORPHA:71277
HP:4000072	Abnormal language feature	6513	SLC2A1	OMIM:606777
HP:4000072	Abnormal language feature	6513	SLC2A1	ORPHA:1942
HP:4000072	Abnormal language feature	124997	WDR81	OMIM:610185
HP:4000072	Abnormal language feature	8733	GPAA1	OMIM:617810
HP:4000072	Abnormal language feature	8733	GPAA1	ORPHA:529665
HP:4000072	Abnormal language feature	89891	DYNC2I2	OMIM:615633
HP:4000072	Abnormal language feature	132	ADK	OMIM:614300
HP:4000072	Abnormal language feature	2290	FOXG1	OMIM:613454
HP:4000072	Abnormal language feature	2290	FOXG1	ORPHA:442835
HP:4000072	Abnormal language feature	11133	KPTN	OMIM:615637
HP:4000072	Abnormal language feature	11133	KPTN	ORPHA:397612
HP:4000072	Abnormal language feature	6334	SCN8A	OMIM:614306
HP:4000072	Abnormal language feature	6334	SCN8A	ORPHA:442835
HP:4000072	Abnormal language feature	89970	RSPRY1	OMIM:616723
HP:4000072	Abnormal language feature	23028	KDM1A	OMIM:616728
HP:4000072	Abnormal language feature	23028	KDM1A	ORPHA:477993
HP:4000072	Abnormal language feature	26115	TANC2	OMIM:618906
HP:4000072	Abnormal language feature	3981	LIG4	OMIM:606593
HP:4000072	Abnormal language feature	3981	LIG4	ORPHA:235
HP:4000072	Abnormal language feature	26580	BSCL2	ORPHA:363400
HP:4000072	Abnormal language feature	26580	BSCL2	OMIM:615924
HP:4000072	Abnormal language feature	1806	DPYD	OMIM:274270
HP:4000072	Abnormal language feature	1806	DPYD	ORPHA:293948
HP:4000072	Abnormal language feature	23291	FBXW11	OMIM:618914
HP:4000072	Abnormal language feature	2782	GNB1	OMIM:616973
HP:4000072	Abnormal language feature	3097	HIVEP2	OMIM:616977
HP:4000072	Abnormal language feature	10982	MAPRE2	OMIM:616734
HP:4000072	Abnormal language feature	3176	HNMT	OMIM:616739
HP:4000072	Abnormal language feature	2891	GRIA2	OMIM:618917
HP:4000072	Abnormal language feature	4131	MAP1B	OMIM:618918
HP:4000072	Abnormal language feature	84679	SLC9A7	OMIM:301024
HP:4000072	Abnormal language feature	90161	HS6ST2	OMIM:301025
HP:4000072	Abnormal language feature	4694	NDUFA1	OMIM:301020
HP:4000072	Abnormal language feature	10735	STAG2	OMIM:301022
HP:4000072	Abnormal language feature	63035	BCORL1	OMIM:301029
HP:4000072	Abnormal language feature	116150	NUS1	OMIM:617831
HP:4000072	Abnormal language feature	116150	NUS1	ORPHA:442835
HP:4000072	Abnormal language feature	79947	DHDDS	OMIM:617836
HP:4000072	Abnormal language feature	79947	DHDDS	ORPHA:442835
HP:4000072	Abnormal language feature	91137	SLC25A46	OMIM:616505
HP:4000072	Abnormal language feature	6678	SPARC	OMIM:616507
HP:4000072	Abnormal language feature	6792	CDKL5	ORPHA:505652
HP:4000072	Abnormal language feature	10943	MSL3	OMIM:301032
HP:4000072	Abnormal language feature	6638	SNRPN	OMIM:209850
HP:4000072	Abnormal language feature	6638	SNRPN	ORPHA:177907
HP:4000072	Abnormal language feature	4041	LRP5	ORPHA:2788
HP:4000072	Abnormal language feature	56479	KCNQ5	OMIM:617601
HP:4000072	Abnormal language feature	23152	CIC	OMIM:617600
HP:4000072	Abnormal language feature	128637	TBC1D20	OMIM:615663
HP:4000072	Abnormal language feature	9343	EFTUD2	ORPHA:79113
HP:4000072	Abnormal language feature	9343	EFTUD2	OMIM:610536
HP:4000072	Abnormal language feature	9997	SCO2	OMIM:604377
HP:4000072	Abnormal language feature	10664	CTCF	ORPHA:363611
HP:4000072	Abnormal language feature	10664	CTCF	OMIM:615502
HP:4000072	Abnormal language feature	10367	MICU1	OMIM:615673
HP:4000072	Abnormal language feature	8270	LAGE3	OMIM:301006
HP:4000072	Abnormal language feature	22866	CNKSR2	OMIM:301008
HP:4000072	Abnormal language feature	22866	CNKSR2	ORPHA:442835
HP:4000072	Abnormal language feature	1861	TOR1A	OMIM:618947
HP:4000072	Abnormal language feature	79853	TM4SF20	OMIM:615432
HP:4000072	Abnormal language feature	117581	TWIST2	OMIM:209885
HP:4000072	Abnormal language feature	117581	TWIST2	OMIM:200110
HP:4000072	Abnormal language feature	117581	TWIST2	ORPHA:920
HP:4000072	Abnormal language feature	23040	MYT1L	OMIM:616521
HP:4000072	Abnormal language feature	23040	MYT1L	ORPHA:647799
HP:4000072	Abnormal language feature	8936	WASF1	OMIM:618707
HP:4000072	Abnormal language feature	6697	SPR	ORPHA:70594
HP:4000072	Abnormal language feature	26503	SLC17A5	OMIM:604369
HP:4000072	Abnormal language feature	80210	ARMC9	OMIM:617622
HP:4000072	Abnormal language feature	81562	LMAN2L	OMIM:617863
HP:4000072	Abnormal language feature	84628	NTNG2	OMIM:618718
HP:4000072	Abnormal language feature	139285	AMER1	OMIM:300373
HP:4000072	Abnormal language feature	259266	ASPM	OMIM:608716
HP:4000072	Abnormal language feature	54888	NSUN2	OMIM:611091
HP:4000072	Abnormal language feature	54888	NSUN2	ORPHA:235
HP:4000072	Abnormal language feature	54802	TRIT1	OMIM:617873
HP:4000072	Abnormal language feature	7518	XRCC4	OMIM:616541
HP:4000072	Abnormal language feature	4763	NF1	ORPHA:139474
HP:4000072	Abnormal language feature	4763	NF1	OMIM:601321
HP:4000072	Abnormal language feature	10274	STAG1	OMIM:617635
HP:4000072	Abnormal language feature	51317	PHF21A	OMIM:618725
HP:4000072	Abnormal language feature	2806	GOT2	OMIM:618721
HP:4000072	Abnormal language feature	1788	DNMT3A	OMIM:618724
HP:4000072	Abnormal language feature	3778	KCNMA1	OMIM:618729
HP:4000072	Abnormal language feature	3778	KCNMA1	OMIM:617643
HP:4000072	Abnormal language feature	2182	ACSL4	OMIM:300387
HP:4000072	Abnormal language feature	9699	RIMS2	OMIM:618970
HP:4000072	Abnormal language feature	1968	EIF2S3	OMIM:300148
HP:4000072	Abnormal language feature	672	BRCA1	OMIM:617883
HP:4000072	Abnormal language feature	5087	PBX1	OMIM:617641
HP:4000072	Abnormal language feature	523	ATP6V1A	OMIM:617403
HP:4000072	Abnormal language feature	523	ATP6V1A	ORPHA:442835
HP:4000072	Abnormal language feature	523	ATP6V1A	ORPHA:357074
HP:4000072	Abnormal language feature	84148	KAT8	OMIM:618974
HP:4000072	Abnormal language feature	27034	ACAD8	ORPHA:79159
HP:4000072	Abnormal language feature	7528	YY1	ORPHA:506358
HP:4000072	Abnormal language feature	7528	YY1	OMIM:617557
HP:4000072	Abnormal language feature	8367	H4C5	OMIM:619950
HP:4000072	Abnormal language feature	91452	ACBD5	OMIM:618863
HP:4000072	Abnormal language feature	9853	RUSC2	OMIM:617773
HP:4000072	Abnormal language feature	9524	TECR	OMIM:614020
HP:4000072	Abnormal language feature	4750	NEK1	OMIM:263520
HP:4000072	Abnormal language feature	23446	SLC44A1	OMIM:618868
HP:4000072	Abnormal language feature	6873	TAF2	OMIM:615599
HP:4000072	Abnormal language feature	10054	UBA2	OMIM:619959
HP:4000072	Abnormal language feature	2972	BRF1	OMIM:616202
HP:4000072	Abnormal language feature	10973	ASCC3	OMIM:620700
HP:4000072	Abnormal language feature	3703	STT3A	OMIM:619714
HP:4000072	Abnormal language feature	84942	WDR73	OMIM:251300
HP:4000072	Abnormal language feature	116931	MED12L	OMIM:618872
HP:4000072	Abnormal language feature	3020	H3-3A	OMIM:619720
HP:4000072	Abnormal language feature	7552	ZNF711	OMIM:300803
HP:4000072	Abnormal language feature	1630	DCC	OMIM:617542
HP:4000072	Abnormal language feature	51111	KMT5B	OMIM:617788
HP:4000072	Abnormal language feature	80155	NAA15	OMIM:617787
HP:4000072	Abnormal language feature	10501	SEMA6B	OMIM:618876
HP:4000072	Abnormal language feature	8309	ACOX2	OMIM:617308
HP:4000072	Abnormal language feature	10381	TUBB3	OMIM:614039
HP:4000072	Abnormal language feature	57156	TMEM63C	OMIM:619966
HP:4000072	Abnormal language feature	28960	DCPS	OMIM:616459
HP:4000072	Abnormal language feature	27102	EIF2AK1	OMIM:618878
HP:4000072	Abnormal language feature	3781	KCNN2	OMIM:619725
HP:4000072	Abnormal language feature	5189	PEX1	OMIM:214100
HP:4000072	Abnormal language feature	5189	PEX1	OMIM:601539
HP:4000072	Abnormal language feature	6660	SOX5	ORPHA:313892
HP:4000072	Abnormal language feature	6660	SOX5	OMIM:616803
HP:4000072	Abnormal language feature	137492	VPS37A	ORPHA:319199
HP:4000072	Abnormal language feature	137492	VPS37A	OMIM:614898
HP:4000072	Abnormal language feature	83696	TRAPPC9	OMIM:613192
HP:4000072	Abnormal language feature	129685	TAF8	OMIM:619972
HP:4000072	Abnormal language feature	2590	GALNT2	OMIM:618885
HP:4000072	Abnormal language feature	55870	ASH1L	OMIM:617796
HP:4000072	Abnormal language feature	535	ATP6V0A1	OMIM:619970
HP:4000072	Abnormal language feature	816	CAMK2B	OMIM:617799
HP:4000072	Abnormal language feature	815	CAMK2A	OMIM:617798
HP:4000072	Abnormal language feature	23184	MESD	OMIM:618644
HP:4000072	Abnormal language feature	51319	RSRC1	OMIM:618402
HP:4000072	Abnormal language feature	8560	DEGS1	OMIM:618404
HP:4000072	Abnormal language feature	8726	EED	OMIM:617561
HP:4000072	Abnormal language feature	10715	CERS1	OMIM:616230
HP:4000072	Abnormal language feature	1656	DDX6	OMIM:618653
HP:4000072	Abnormal language feature	2744	GLS	OMIM:618412
HP:4000072	Abnormal language feature	5442	POLRMT	OMIM:619743
HP:4000072	Abnormal language feature	6712	SPTBN2	OMIM:615386
HP:4000072	Abnormal language feature	6712	SPTBN2	ORPHA:352403
HP:4000072	Abnormal language feature	4297	KMT2A	ORPHA:319182
HP:4000072	Abnormal language feature	4297	KMT2A	OMIM:605130
HP:4000072	Abnormal language feature	55714	TENM3	OMIM:615145
HP:4000072	Abnormal language feature	83636	C19orf12	OMIM:614298
HP:4000072	Abnormal language feature	833	CARS1	OMIM:618891
HP:4000072	Abnormal language feature	57178	ZMIZ1	OMIM:618659
HP:4000072	Abnormal language feature	2783	GNB2	OMIM:619503
HP:4000072	Abnormal language feature	26057	ANKRD17	OMIM:619504
HP:4000072	Abnormal language feature	3737	KCNA2	ORPHA:442835
HP:4000072	Abnormal language feature	1759	DNM1	ORPHA:442835
HP:4000072	Abnormal language feature	8120	AP3B2	ORPHA:442835
HP:4000072	Abnormal language feature	10991	SLC38A3	ORPHA:442835
HP:4000072	Abnormal language feature	3747	KCNC2	ORPHA:442835
HP:4000072	Abnormal language feature	1917	EEF1A2	ORPHA:442835
HP:4000072	Abnormal language feature	1917	EEF1A2	OMIM:616409
HP:4000072	Abnormal language feature	23219	FBXO28	ORPHA:442835
HP:4000072	Abnormal language feature	2561	GABRB2	ORPHA:442835
HP:4000072	Abnormal language feature	8831	SYNGAP1	ORPHA:442835
HP:4000072	Abnormal language feature	8831	SYNGAP1	ORPHA:1942
HP:4000072	Abnormal language feature	8831	SYNGAP1	ORPHA:544254
HP:4000072	Abnormal language feature	2558	GABRA5	ORPHA:442835
HP:4000072	Abnormal language feature	2906	GRIN2D	ORPHA:442835
HP:4000072	Abnormal language feature	1213	CLTC	ORPHA:442835
HP:4000072	Abnormal language feature	51741	WWOX	ORPHA:442835
HP:4000072	Abnormal language feature	51741	WWOX	ORPHA:284282
HP:4000072	Abnormal language feature	23334	SZT2	ORPHA:442835
HP:4000072	Abnormal language feature	348980	HCN1	ORPHA:442835
HP:4000072	Abnormal language feature	348980	HCN1	OMIM:618482
HP:4000072	Abnormal language feature	25977	NECAP1	ORPHA:442835
HP:4000072	Abnormal language feature	16	AARS1	ORPHA:442835
HP:4000072	Abnormal language feature	9568	GABBR2	ORPHA:442835
HP:4000072	Abnormal language feature	2555	GABRA2	ORPHA:442835
HP:4000072	Abnormal language feature	55152	DALRD3	ORPHA:442835
HP:4000072	Abnormal language feature	26999	CYFIP2	ORPHA:442835
HP:4000072	Abnormal language feature	4915	NTRK2	ORPHA:442835
HP:4000072	Abnormal language feature	25973	PARS2	ORPHA:442835
HP:4000072	Abnormal language feature	23097	CDK19	ORPHA:442835
HP:4000072	Abnormal language feature	2257	FGF12	ORPHA:442835
HP:4000072	Abnormal language feature	5530	PPP3CA	ORPHA:442835
HP:4000072	Abnormal language feature	22906	TRAK1	ORPHA:442835
HP:4000072	Abnormal language feature	2566	GABRG2	ORPHA:442835
HP:4000072	Abnormal language feature	7532	YWHAG	ORPHA:442835
HP:4000072	Abnormal language feature	79876	UBA5	ORPHA:442835
HP:4000072	Abnormal language feature	6328	SCN3A	ORPHA:442835
HP:4000072	Abnormal language feature	6328	SCN3A	OMIM:617935
HP:4000072	Abnormal language feature	781	CACNA2D1	ORPHA:442835
HP:4000072	Abnormal language feature	10659	CELF2	ORPHA:442835
HP:4000072	Abnormal language feature	10659	CELF2	OMIM:619561
HP:4000072	Abnormal language feature	774	CACNA1B	ORPHA:442835
HP:4000072	Abnormal language feature	51412	ACTL6B	ORPHA:442835
HP:4000072	Abnormal language feature	6506	SLC1A2	ORPHA:442835
HP:4000072	Abnormal language feature	8867	SYNJ1	ORPHA:442835
HP:4000072	Abnormal language feature	3745	KCNB1	ORPHA:442835
HP:4000072	Abnormal language feature	284111	SLC13A5	ORPHA:442835
HP:4000072	Abnormal language feature	55623	THUMPD1	OMIM:619989
HP:4000072	Abnormal language feature	284439	SLC25A42	OMIM:618416
HP:4000072	Abnormal language feature	56006	SMG9	OMIM:619995
HP:4000072	Abnormal language feature	1182	CLCN3	OMIM:619512
HP:4000072	Abnormal language feature	29081	METTL5	OMIM:618665
HP:4000072	Abnormal language feature	10717	AP4B1	OMIM:614066
HP:4000072	Abnormal language feature	7862	BRPF1	OMIM:617333
HP:4000072	Abnormal language feature	54914	FOCAD	OMIM:619991
HP:4000072	Abnormal language feature	8363	H4C11	OMIM:619759
HP:4000072	Abnormal language feature	2550	GABBR1	OMIM:620502
HP:4000072	Abnormal language feature	2592	GALT	OMIM:230400
HP:4000072	Abnormal language feature	2592	GALT	ORPHA:79239
HP:4000072	Abnormal language feature	7701	ZNF142	OMIM:618425
HP:4000072	Abnormal language feature	8659	ALDH4A1	ORPHA:79101
HP:4000072	Abnormal language feature	26137	ZBTB20	OMIM:259050
HP:4000072	Abnormal language feature	10021	HCN4	OMIM:619521
HP:4000072	Abnormal language feature	7750	ZMYM2	OMIM:619522
HP:4000072	Abnormal language feature	6942	TCF20	OMIM:618430
HP:4000072	Abnormal language feature	2720	GLB1	OMIM:230650
HP:4000072	Abnormal language feature	10297	APC2	OMIM:618677
HP:4000072	Abnormal language feature	10297	APC2	OMIM:617169
HP:4000072	Abnormal language feature	57466	SCAF4	OMIM:620511
HP:4000072	Abnormal language feature	256471	MFSD8	OMIM:610951
HP:4000072	Abnormal language feature	51341	ZBTB7A	OMIM:619769
HP:4000072	Abnormal language feature	9338	TCEAL1	OMIM:301094
HP:4000072	Abnormal language feature	7030	TFE3	OMIM:301066
HP:4000072	Abnormal language feature	4123	MAN2C1	OMIM:619775
HP:4000072	Abnormal language feature	54941	RNF125	OMIM:616260
HP:4000072	Abnormal language feature	85365	ALG2	OMIM:607906
HP:4000072	Abnormal language feature	10463	SLC30A9	OMIM:617595
HP:4000072	Abnormal language feature	57479	PRR12	OMIM:619539
HP:4000072	Abnormal language feature	6709	SPTAN1	OMIM:620528
HP:4000072	Abnormal language feature	6709	SPTAN1	OMIM:620540
HP:4000072	Abnormal language feature	1107	CHD3	OMIM:618205
HP:4000072	Abnormal language feature	85459	CEP295	OMIM:620767
HP:4000072	Abnormal language feature	79087	ALG12	ORPHA:79324
HP:4000072	Abnormal language feature	1173	AP2M1	ORPHA:1942
HP:4000072	Abnormal language feature	1106	CHD2	ORPHA:1942
HP:4000072	Abnormal language feature	6529	SLC6A1	ORPHA:1942
HP:4000072	Abnormal language feature	25981	DNAH1	ORPHA:244
HP:4000072	Abnormal language feature	115948	ODAD3	ORPHA:244
HP:4000072	Abnormal language feature	54768	HYDIN	ORPHA:244
HP:4000072	Abnormal language feature	352909	DNAAF3	ORPHA:244
HP:4000072	Abnormal language feature	27148	STK36	ORPHA:244
HP:4000072	Abnormal language feature	51314	NME8	ORPHA:244
HP:4000072	Abnormal language feature	92749	DRC1	ORPHA:244
HP:4000072	Abnormal language feature	54970	TTC12	ORPHA:244
HP:4000072	Abnormal language feature	152110	NEK10	ORPHA:244
HP:4000072	Abnormal language feature	8481	OFD1	ORPHA:244
HP:4000072	Abnormal language feature	2302	FOXJ1	ORPHA:244
HP:4000072	Abnormal language feature	221421	RSPH9	ORPHA:244
HP:4000072	Abnormal language feature	85478	CCDC65	ORPHA:244
HP:4000072	Abnormal language feature	55036	CCDC40	ORPHA:244
HP:4000072	Abnormal language feature	51364	ZMYND10	ORPHA:244
HP:4000072	Abnormal language feature	64446	DNAI2	ORPHA:244
HP:4000072	Abnormal language feature	8382	NME5	ORPHA:244
HP:4000072	Abnormal language feature	6674	SPAG1	ORPHA:244
HP:4000072	Abnormal language feature	83544	DNAL1	ORPHA:244
HP:4000072	Abnormal language feature	89765	RSPH1	ORPHA:244
HP:4000072	Abnormal language feature	83538	ODAD4	ORPHA:244
HP:4000072	Abnormal language feature	200373	CFAP221	ORPHA:244
HP:4000072	Abnormal language feature	374407	DNAJB13	ORPHA:244
HP:4000072	Abnormal language feature	55172	DNAAF2	ORPHA:244
HP:4000072	Abnormal language feature	2622	GAS8	ORPHA:244
HP:4000072	Abnormal language feature	23639	DNAAF11	ORPHA:244
HP:4000072	Abnormal language feature	27019	DNAI1	ORPHA:244
HP:4000072	Abnormal language feature	345895	RSPH4A	ORPHA:244
HP:4000072	Abnormal language feature	54919	DNAAF5	ORPHA:244
HP:4000072	Abnormal language feature	6103	RPGR	ORPHA:244
HP:4000072	Abnormal language feature	85452	CFAP74	ORPHA:244
HP:4000072	Abnormal language feature	93233	ODAD1	ORPHA:244
HP:4000072	Abnormal language feature	55130	ODAD2	ORPHA:244
HP:4000072	Abnormal language feature	1767	DNAH5	ORPHA:244
HP:4000072	Abnormal language feature	83861	RSPH3	ORPHA:244
HP:4000072	Abnormal language feature	345643	MCIDAS	ORPHA:244
HP:4000072	Abnormal language feature	56683	CFAP298	ORPHA:244
HP:4000072	Abnormal language feature	79925	SPEF2	ORPHA:244
HP:4000072	Abnormal language feature	10309	CCNO	ORPHA:244
HP:4000072	Abnormal language feature	115399	LRRC56	ORPHA:244
HP:4000072	Abnormal language feature	139212	DNAAF6	ORPHA:244
HP:4000072	Abnormal language feature	123872	DNAAF1	ORPHA:244
HP:4000072	Abnormal language feature	85016	CFAP300	ORPHA:244
HP:4000072	Abnormal language feature	339829	CCDC39	ORPHA:244
HP:4000072	Abnormal language feature	8701	DNAH11	ORPHA:244
HP:4000072	Abnormal language feature	1770	DNAH9	ORPHA:244
HP:4000072	Abnormal language feature	246176	GAS2L2	ORPHA:244
HP:4000072	Abnormal language feature	10262	SF3B4	ORPHA:245
HP:4000072	Abnormal language feature	10262	SF3B4	OMIM:154400
HP:4000072	Abnormal language feature	2742	GLRA2	OMIM:301076
HP:4000072	Abnormal language feature	9896	FIG4	ORPHA:208441
HP:4000072	Abnormal language feature	26100	WIPI2	OMIM:618453
HP:4000072	Abnormal language feature	8295	TRRAP	OMIM:618454
HP:4000072	Abnormal language feature	8621	CDK13	OMIM:617360
HP:4000072	Abnormal language feature	5256	PHKA2	ORPHA:264580
HP:4000072	Abnormal language feature	5261	PHKG2	ORPHA:264580
HP:4000072	Abnormal language feature	5587	PRKD1	OMIM:617364
HP:4000072	Abnormal language feature	27133	KCNH5	OMIM:620537
HP:4000072	Abnormal language feature	221078	NSUN6	OMIM:620779
HP:4000072	Abnormal language feature	27145	FILIP1	OMIM:620775
HP:4000072	Abnormal language feature	140679	SLC32A1	OMIM:620774
HP:4000072	Abnormal language feature	8905	AP1S2	OMIM:304340
HP:4000072	Abnormal language feature	78987	CRELD1	OMIM:620771
HP:4000072	Abnormal language feature	54808	DYM	ORPHA:239
HP:4000072	Abnormal language feature	55217	TMLHE	OMIM:300872
HP:4000072	Abnormal language feature	5898	RALA	OMIM:619311
HP:4000072	Abnormal language feature	9759	HDAC4	OMIM:619797
HP:4000072	Abnormal language feature	9759	HDAC4	OMIM:600430
HP:4000072	Abnormal language feature	30000	TNPO2	OMIM:619556
HP:4000072	Abnormal language feature	6477	SIAH1	OMIM:619314
HP:4000072	Abnormal language feature	57102	FERRY3	OMIM:618221
HP:4000072	Abnormal language feature	51728	POLR3K	OMIM:619310
HP:4000072	Abnormal language feature	83548	COG3	OMIM:620546
HP:4000072	Abnormal language feature	55628	ZNF407	OMIM:619557
HP:4000072	Abnormal language feature	11267	SNF8	OMIM:620784
HP:4000072	Abnormal language feature	9256	TSPOAP1	ORPHA:101150
HP:4000072	Abnormal language feature	84320	ACBD6	OMIM:620785
HP:4000072	Abnormal language feature	4076	CAPRIN1	OMIM:620782
HP:4000072	Abnormal language feature	1387	CREBBP	ORPHA:353281
HP:4000072	Abnormal language feature	1387	CREBBP	OMIM:180849
HP:4000072	Abnormal language feature	1387	CREBBP	ORPHA:353277
HP:4000072	Abnormal language feature	56521	DNAJC12	OMIM:617384
HP:4000072	Abnormal language feature	3714	JAG2	OMIM:619566
HP:4000072	Abnormal language feature	10978	CLP1	ORPHA:411493
HP:4000072	Abnormal language feature	23030	KDM4B	OMIM:619320
HP:4000072	Abnormal language feature	443	ASPA	ORPHA:314918
HP:4000072	Abnormal language feature	7453	WARS1	OMIM:620317
HP:4000072	Abnormal language feature	5010	CLDN11	OMIM:619328
HP:4000072	Abnormal language feature	6263	RYR3	OMIM:620310
HP:4000072	Abnormal language feature	161725	OTUD7A	OMIM:620790
HP:4000072	Abnormal language feature	1725	DHPS	OMIM:618480
HP:4000072	Abnormal language feature	1741	DLG3	OMIM:300850
HP:4000072	Abnormal language feature	57551	TAOK1	OMIM:619575
HP:4000072	Abnormal language feature	25929	GEMIN5	OMIM:619333
HP:4000072	Abnormal language feature	79641	ROGDI	OMIM:226750
HP:4000072	Abnormal language feature	54496	PRMT7	OMIM:617157
HP:4000072	Abnormal language feature	84188	FAR1	OMIM:619338
HP:4000072	Abnormal language feature	9969	MED13	OMIM:618009
HP:4000072	Abnormal language feature	92344	GORAB	OMIM:231070
HP:4000072	Abnormal language feature	4141	MARS1	OMIM:620323
HP:4000072	Abnormal language feature	10157	AASS	OMIM:238700
HP:4000072	Abnormal language feature	10157	AASS	ORPHA:2203
HP:4000072	Abnormal language feature	23203	PMPCA	OMIM:213200
HP:4000072	Abnormal language feature	23203	PMPCA	ORPHA:1170
HP:4000072	Abnormal language feature	23389	MED13L	ORPHA:369891
HP:4000072	Abnormal language feature	2898	GRIK2	OMIM:619580
HP:4000072	Abnormal language feature	1781	DYNC1I2	OMIM:618492
HP:4000072	Abnormal language feature	7319	UBE2A	OMIM:300860
HP:4000072	Abnormal language feature	9496	TBX4	ORPHA:261279
HP:4000072	Abnormal language feature	8091	HMGA2	ORPHA:94063
HP:4000072	Abnormal language feature	8091	HMGA2	ORPHA:397590
HP:4000072	Abnormal language feature	23592	LEMD3	ORPHA:94063
HP:4000072	Abnormal language feature	26040	SETBP1	OMIM:616078
HP:4000072	Abnormal language feature	8635	RNASET2	OMIM:612951
HP:4000072	Abnormal language feature	91039	DPP9	OMIM:620331
HP:4000072	Abnormal language feature	23594	ORC6	OMIM:613803
HP:4000072	Abnormal language feature	1756	DMD	ORPHA:98896
HP:4000072	Abnormal language feature	8425	LTBP4	ORPHA:98896
HP:4000072	Abnormal language feature	64864	RFX7	OMIM:620330
HP:4000072	Abnormal language feature	80185	TTI2	ORPHA:391307
HP:4000072	Abnormal language feature	80185	TTI2	OMIM:615541
HP:4000072	Abnormal language feature	2628	GATM	OMIM:612718
HP:4000072	Abnormal language feature	10771	ZMYND11	OMIM:616083
HP:4000072	Abnormal language feature	6611	SMS	ORPHA:3063
HP:4000072	Abnormal language feature	7068	THRB	OMIM:188570
HP:4000072	Abnormal language feature	5977	DPF2	OMIM:618027
HP:4000072	Abnormal language feature	35	ACADS	OMIM:201470
HP:4000072	Abnormal language feature	35	ACADS	ORPHA:26792
HP:4000072	Abnormal language feature	10847	SRCAP	OMIM:619595
HP:4000072	Abnormal language feature	10847	SRCAP	ORPHA:2044
HP:4000072	Abnormal language feature	10847	SRCAP	OMIM:136140
HP:4000072	Abnormal language feature	55526	DHTKD1	OMIM:204750
HP:4000072	Abnormal language feature	3839	KPNA3	OMIM:620106
HP:4000072	Abnormal language feature	79005	SCNM1	OMIM:620107
HP:4000072	Abnormal language feature	1605	DAG1	OMIM:613818
HP:4000072	Abnormal language feature	84172	POLR1B	ORPHA:861
HP:4000072	Abnormal language feature	9533	POLR1C	ORPHA:861
HP:4000072	Abnormal language feature	6949	TCOF1	ORPHA:861
HP:4000072	Abnormal language feature	55210	ATAD3A	OMIM:617183
HP:4000072	Abnormal language feature	2077	ERF	OMIM:617180
HP:4000072	Abnormal language feature	2077	ERF	OMIM:600775
HP:4000072	Abnormal language feature	90522	YIF1B	OMIM:619125
HP:4000072	Abnormal language feature	29123	ANKRD11	ORPHA:261250
HP:4000072	Abnormal language feature	1200	TPP1	OMIM:204500
HP:4000072	Abnormal language feature	118924	FRA10AC1	OMIM:620113
HP:4000072	Abnormal language feature	2593	GAMT	OMIM:612736
HP:4000072	Abnormal language feature	55252	ASXL2	OMIM:617190
HP:4000072	Abnormal language feature	6904	TBCD	OMIM:617193
HP:4000072	Abnormal language feature	3739	KCNA4	OMIM:618284
HP:4000072	Abnormal language feature	23154	NCDN	OMIM:619373
HP:4000072	Abnormal language feature	4781	NFIB	OMIM:618286
HP:4000072	Abnormal language feature	55074	OXR1	OMIM:213000
HP:4000072	Abnormal language feature	11011	TLK2	OMIM:618050
HP:4000072	Abnormal language feature	27161	AGO2	OMIM:619149
HP:4000072	Abnormal language feature	8665	EIF3F	OMIM:618295
HP:4000072	Abnormal language feature	221927	BRAT1	OMIM:618056
HP:4000072	Abnormal language feature	267	AMFR	OMIM:620379
HP:4000072	Abnormal language feature	161742	SPRED1	ORPHA:137605
HP:4000072	Abnormal language feature	64858	DCLRE1B	OMIM:620133
HP:4000072	Abnormal language feature	3480	IGF1R	OMIM:270450
HP:4000072	Abnormal language feature	9325	TRIP4	ORPHA:486815
HP:4000072	Abnormal language feature	90952	ESAM	OMIM:620371
HP:4000072	Abnormal language feature	11113	CIT	OMIM:617090
HP:4000072	Abnormal language feature	4702	NDUFA8	OMIM:619272
HP:4000072	Abnormal language feature	27183	VPS4A	OMIM:619273
HP:4000072	Abnormal language feature	10128	LRPPRC	OMIM:220111
HP:4000072	Abnormal language feature	58499	ZNF462	ORPHA:502430
HP:4000072	Abnormal language feature	58499	ZNF462	OMIM:618619
HP:4000072	Abnormal language feature	158	ADSL	OMIM:103050
HP:4000072	Abnormal language feature	375	ARF1	OMIM:618185
HP:4000072	Abnormal language feature	23019	CNOT1	OMIM:619033
HP:4000072	Abnormal language feature	55503	TRPV6	OMIM:618188
HP:4000072	Abnormal language feature	775	CACNA1C	OMIM:620029
HP:4000072	Abnormal language feature	7109	TRAPPC10	OMIM:620027
HP:4000072	Abnormal language feature	55777	MBD5	ORPHA:228402
HP:4000072	Abnormal language feature	132158	GLYCTK	ORPHA:941
HP:4000072	Abnormal language feature	501	ALDH7A1	OMIM:266100
HP:4000072	Abnormal language feature	9442	MED27	OMIM:619286
HP:4000072	Abnormal language feature	4649	MYO9A	OMIM:618198
HP:4000072	Abnormal language feature	25914	RTTN	OMIM:614833
HP:4000072	Abnormal language feature	25782	RAB3GAP2	OMIM:212720
HP:4000072	Abnormal language feature	6595	SMARCA2	OMIM:619293
HP:4000072	Abnormal language feature	7102	TSPAN7	OMIM:300210
HP:4000072	Abnormal language feature	57492	ARID1B	OMIM:135900
HP:4000072	Abnormal language feature	116228	COX20	OMIM:619054
HP:4000072	Abnormal language feature	26277	TINF2	OMIM:613990
HP:4000072	Abnormal language feature	9739	SETD1A	OMIM:619056
HP:4000072	Abnormal language feature	340024	SLC6A19	OMIM:234500
HP:4000072	Abnormal language feature	8289	ARID1A	OMIM:614607
HP:4000072	Abnormal language feature	158326	FREM1	ORPHA:3366
HP:4000072	Abnormal language feature	10716	TBR1	OMIM:606053
HP:4000072	Abnormal language feature	26523	AGO1	OMIM:620292
HP:4000072	Abnormal language feature	4697	NDUFA4	OMIM:619065
HP:4000072	Abnormal language feature	79813	EHMT1	OMIM:610253
HP:4000072	Abnormal language feature	79813	EHMT1	ORPHA:261652
HP:4000072	Abnormal language feature	5144	PDE4D	OMIM:614613
HP:4000072	Abnormal language feature	10382	TUBB4A	OMIM:612438
HP:4000072	Abnormal language feature	5230	PGK1	ORPHA:713
HP:4000072	Abnormal language feature	5230	PGK1	OMIM:300653
HP:4000072	Abnormal language feature	7915	ALDH5A1	OMIM:271980
HP:4000072	Abnormal language feature	2697	GJA1	OMIM:257850
HP:4000072	Abnormal language feature	2615	LRRC32	OMIM:619074
HP:4000072	Abnormal language feature	4953	ODC1	OMIM:619075
HP:4000072	Abnormal language feature	9289	ADGRG1	ORPHA:98889
HP:4000072	Abnormal language feature	5297	PI4KA	ORPHA:98889
HP:4000072	Abnormal language feature	5297	PI4KA	OMIM:619708
HP:4000072	Abnormal language feature	22859	ADGRL1	OMIM:620065
HP:4000072	Abnormal language feature	6558	SLC12A2	OMIM:619083
HP:4000072	Abnormal language feature	58508	KMT2C	ORPHA:261652
HP:4000072	Abnormal language feature	58508	KMT2C	OMIM:617768
HP:4000072	Abnormal language feature	5594	MAPK1	OMIM:619087
HP:4000072	Abnormal language feature	3481	IGF2	ORPHA:397590
HP:4000072	Abnormal language feature	1028	CDKN1C	ORPHA:397590
HP:4000072	Abnormal language feature	5324	PLAG1	ORPHA:397590
HP:4000072	Abnormal language feature	284217	LAMA1	OMIM:615960
HP:4000072	Abnormal language feature	284217	LAMA1	ORPHA:370022
HP:4000072	Abnormal language feature	286262	TPRN	OMIM:613307
HP:4000072	Abnormal language feature	51244	CCDC174	OMIM:616816
HP:4000072	Abnormal language feature	54862	CC2D1A	OMIM:608443
HP:4000072	Abnormal language feature	23065	EMC1	ORPHA:480898
HP:4000072	Abnormal language feature	23065	EMC1	OMIM:616875
HP:4000072	Abnormal language feature	10430	TMEM147	OMIM:620075
HP:4000072	Abnormal language feature	11152	WDR45	OMIM:300894
HP:4000072	Abnormal language feature	4677	NARS1	OMIM:619091
HP:4000072	Abnormal language feature	4677	NARS1	OMIM:619092
HP:4000072	Abnormal language feature	50484	RRM2B	OMIM:268315
HP:4000072	Abnormal language feature	254065	BRWD3	OMIM:300659
HP:4000072	Abnormal language feature	9147	NEMF	OMIM:619099
HP:4000072	Abnormal language feature	26047	CNTNAP2	OMIM:610042
HP:4000072	Abnormal language feature	26047	CNTNAP2	ORPHA:163681
HP:4000072	Abnormal language feature	1384	CRAT	OMIM:617917
HP:4000072	Abnormal language feature	85021	REPS1	OMIM:617916
HP:4000072	Abnormal language feature	1487	CTBP1	OMIM:617915
HP:4000072	Abnormal language feature	197322	ACSF3	ORPHA:289504
HP:4000072	Abnormal language feature	54413	NLGN3	OMIM:300425
HP:4000072	Abnormal language feature	9775	EIF4A3	OMIM:268305
HP:4000072	Abnormal language feature	93183	PIGM	OMIM:610293
HP:4000072	Abnormal language feature	2703	GJA8	OMIM:612474
HP:4000072	Abnormal language feature	2702	GJA5	OMIM:612474
HP:4000072	Abnormal language feature	29072	SETD2	OMIM:616831
HP:4000072	Abnormal language feature	3897	L1CAM	ORPHA:2466
HP:4000072	Abnormal language feature	51053	GMNN	OMIM:616835
HP:4000072	Abnormal language feature	27152	INTU	OMIM:617926
HP:4000072	Abnormal language feature	274	BIN1	ORPHA:169186
HP:4000072	Abnormal language feature	10290	SPEG	ORPHA:169186
HP:4000072	Abnormal language feature	6261	RYR1	ORPHA:169186
HP:4000072	Abnormal language feature	7273	TTN	ORPHA:169186
HP:4000072	Abnormal language feature	9158	FIBP	ORPHA:500095
HP:4000072	Abnormal language feature	4683	NBN	OMIM:251260
HP:4000072	Abnormal language feature	9698	PUM1	OMIM:617931
HP:4000072	Abnormal language feature	29926	GMPPA	OMIM:615510
HP:4000072	Abnormal language feature	85358	SHANK3	OMIM:606232
HP:4000072	Abnormal language feature	658	BMPR1B	OMIM:616849
HP:4000072	Abnormal language feature	57511	COG6	ORPHA:363523
HP:4000072	Abnormal language feature	57511	COG6	OMIM:615328
HP:4000072	Abnormal language feature	113179	ADAT3	ORPHA:363528
HP:4000072	Abnormal language feature	55784	MCTP2	ORPHA:1596
HP:4000072	Abnormal language feature	5831	PYCR1	OMIM:614438
HP:4000072	Abnormal language feature	3736	KCNA1	ORPHA:37612
HP:4000072	Abnormal language feature	26224	FBXL3	OMIM:606220
HP:4000072	Abnormal language feature	10484	SEC23A	ORPHA:50814
HP:4000072	Abnormal language feature	7874	USP7	OMIM:616863
HP:4000072	Abnormal language feature	7874	USP7	ORPHA:500055
HP:4000072	Abnormal language feature	55603	TENT5A	OMIM:617952
HP:4000072	Abnormal language feature	26007	TKFC	OMIM:618805
HP:4000072	Abnormal language feature	27315	PGAP2	OMIM:614207
HP:4000072	Abnormal language feature	64131	XYLT1	OMIM:615777
HP:4000072	Abnormal language feature	5257	PHKB	ORPHA:79240
HP:4000072	Abnormal language feature	128989	TANGO2	ORPHA:480864
HP:4000072	Abnormal language feature	5718	PSMD12	ORPHA:529962
HP:4000072	Abnormal language feature	5718	PSMD12	OMIM:617516
HP:4000072	Abnormal language feature	2186	BPTF	ORPHA:529962
HP:4000072	Abnormal language feature	2186	BPTF	OMIM:617755
HP:4000072	Abnormal language feature	4287	ATXN3	ORPHA:276238
HP:4000072	Abnormal language feature	4287	ATXN3	ORPHA:276244
HP:4000072	Abnormal language feature	4287	ATXN3	ORPHA:276241
HP:4000072	Abnormal language feature	27010	TPK1	OMIM:614458
HP:4000072	Abnormal language feature	55644	OSGEP	OMIM:617729
HP:4000072	Abnormal language feature	57572	DOCK6	OMIM:614219
HP:4000072	Abnormal language feature	54658	UGT1A1	ORPHA:79234
HP:4000072	Abnormal language feature	7074	TIAM1	OMIM:619908
HP:4000072	Abnormal language feature	2464	FRA16E	OMIM:136570
HP:4000072	Abnormal language feature	112858	TP53RK	OMIM:617730
HP:4000072	Abnormal language feature	2737	GLI3	OMIM:175700
HP:4000072	Abnormal language feature	1778	DYNC1H1	OMIM:614228
HP:4000072	Abnormal language feature	4929	NR4A2	OMIM:619911
HP:4000072	Abnormal language feature	285175	UNC80	ORPHA:371364
HP:4000072	Abnormal language feature	8405	SPOP	OMIM:618828
HP:4000072	Abnormal language feature	8405	SPOP	OMIM:618829
HP:4000072	Abnormal language feature	26576	SRPK3	OMIM:301134
HP:4000072	Abnormal language feature	54870	QRICH1	OMIM:617982
HP:4000072	Abnormal language feature	4780	NFE2L2	OMIM:617744
HP:4000072	Abnormal language feature	2890	GRIA1	OMIM:619927
HP:4000072	Abnormal language feature	54805	CNNM2	OMIM:616418
HP:4000072	Abnormal language feature	5500	PPP1CB	OMIM:617506
HP:4000072	Abnormal language feature	7291	TWIST1	OMIM:617746
HP:4000072	Abnormal language feature	126792	B3GALT6	ORPHA:536467
HP:4000072	Abnormal language feature	57502	NLGN4X	OMIM:300495
HP:4000072	Abnormal language feature	4047	LSS	OMIM:618840
HP:4000072	Abnormal language feature	9320	TRIP12	OMIM:617752
HP:4000072	Abnormal language feature	529	ATP6V1E1	ORPHA:357074
HP:4000072	Abnormal language feature	84631	SLITRK2	OMIM:301107
HP:4000072	Abnormal language feature	51780	KDM3B	OMIM:618846
HP:4000072	Abnormal language feature	8575	PRKRA	OMIM:612067
HP:4000072	Abnormal language feature	5455	POU3F3	OMIM:618604
HP:4000072	Abnormal language feature	119559	SFXN4	OMIM:615578
HP:4000072	Abnormal language feature	9439	MED23	OMIM:614249
HP:4000072	Abnormal language feature	4848	CNOT2	OMIM:618608
HP:4000072	Abnormal language feature	1807	DPYS	OMIM:222748
HP:4000072	Abnormal language feature	2639	GCDH	OMIM:231670
HP:4000072	Abnormal language feature	9203	ZMYM3	OMIM:301111
HP:4000072	Abnormal language feature	23133	PHF8	OMIM:300263
HP:4000072	Abnormal language feature	84706	GPT2	ORPHA:477673
HP:4000072	Abnormal language feature	23404	EXOSC2	OMIM:617763
HP:4000072	Abnormal language feature	1478	CSTF2	OMIM:301116
HP:4000072	Abnormal language feature	22978	NT5C2	OMIM:613162
HP:4000072	Abnormal language feature	7543	ZFX	OMIM:301118
HP:4000072	Abnormal language feature	8738	CRADD	OMIM:614499
HP:4000072	Abnormal language feature	4858	NOVA2	OMIM:618859
HP:4000072	Abnormal language feature	9181	ARHGEF2	OMIM:617523
HP:4000072	Abnormal language feature	547	KIF1A	OMIM:614255
HP:4000072	Abnormal language feature	2582	GALE	OMIM:230350
HP:4000072	Abnormal language feature	26191	PTPN22	ORPHA:397
HP:4000072	Abnormal language feature	3123	HLA-DRB1	ORPHA:397
HP:4000072	Abnormal language feature	8974	P4HA2	ORPHA:397
HP:4000072	Abnormal language feature	5274	SERPINI1	OMIM:604218
HP:4000072	Abnormal language feature	10749	KIF1C	ORPHA:397946
HP:4000072	Abnormal language feature	10749	KIF1C	OMIM:611302
HP:4000072	Abnormal language feature	1145	CHRNE	OMIM:608931
HP:4000072	Abnormal language feature	2673	GFPT1	OMIM:608931
HP:4000072	Abnormal language feature	23646	PLD3	OMIM:617770
HP:4000072	Abnormal language feature	4099	MAG	OMIM:616680
HP:4000072	Abnormal language feature	60684	TRAPPC11	OMIM:615356
HP:4000072	Abnormal language feature	5238	PGM3	ORPHA:443811
HP:4000072	Abnormal language feature	5238	PGM3	OMIM:615816
HP:4000072	Abnormal language feature	9254	CACNA2D2	OMIM:618501
HP:4000072	Abnormal language feature	11284	PNKP	ORPHA:459033
HP:4000072	Abnormal language feature	55733	HHAT	OMIM:600092
HP:4000072	Abnormal language feature	1134	CHRNA1	OMIM:608930
HP:4000072	Abnormal language feature	1134	CHRNA1	OMIM:601462
HP:4000072	Abnormal language feature	5521	PPP2R2B	OMIM:604326
HP:4000072	Abnormal language feature	6687	SPG7	ORPHA:99013
HP:4000072	Abnormal language feature	6687	SPG7	OMIM:607259
HP:4000072	Abnormal language feature	5631	PRPS1	ORPHA:99014
HP:4000072	Abnormal language feature	57165	GJC2	OMIM:608804
HP:4000072	Abnormal language feature	57165	GJC2	ORPHA:320401
HP:4000072	Abnormal language feature	57165	GJC2	OMIM:613206
HP:4000072	Abnormal language feature	3074	HEXB	ORPHA:309162
HP:4000072	Abnormal language feature	3074	HEXB	ORPHA:309169
HP:4000072	Abnormal language feature	3074	HEXB	OMIM:268800
HP:4000072	Abnormal language feature	8722	CTSF	OMIM:615362
HP:4000072	Abnormal language feature	5917	RARS1	ORPHA:438114
HP:4000072	Abnormal language feature	5917	RARS1	OMIM:616140
HP:4000072	Abnormal language feature	1644	DDC	ORPHA:35708
HP:4000072	Abnormal language feature	6616	SNAP25	OMIM:616330
HP:4000072	Abnormal language feature	10528	NOP56	OMIM:614153
HP:4000072	Abnormal language feature	10528	NOP56	ORPHA:276198
HP:4000072	Abnormal language feature	101060691	NUTM2B-AS1	OMIM:618637
HP:4000072	Abnormal language feature	2670	GFAP	OMIM:203450
HP:4000072	Abnormal language feature	2670	GFAP	ORPHA:363722
HP:4000072	Abnormal language feature	2670	GFAP	ORPHA:363717
HP:4000072	Abnormal language feature	5610	EIF2AK2	OMIM:618877
HP:4000072	Abnormal language feature	1476	CSTB	OMIM:254800
HP:4000072	Abnormal language feature	1476	CSTB	ORPHA:308
HP:4000072	Abnormal language feature	1161	ERCC8	OMIM:216400
HP:4000072	Abnormal language feature	23400	ATP13A2	ORPHA:314632
HP:4000072	Abnormal language feature	23400	ATP13A2	OMIM:617225
HP:4000072	Abnormal language feature	23400	ATP13A2	ORPHA:513436
HP:4000072	Abnormal language feature	23400	ATP13A2	ORPHA:306674
HP:4000072	Abnormal language feature	23400	ATP13A2	OMIM:606693
HP:4000072	Abnormal language feature	410	ARSA	ORPHA:309271
HP:4000072	Abnormal language feature	410	ARSA	ORPHA:309263
HP:4000072	Abnormal language feature	410	ARSA	OMIM:250100
HP:4000072	Abnormal language feature	410	ARSA	ORPHA:309256
HP:4000072	Abnormal language feature	5660	PSAP	ORPHA:309271
HP:4000072	Abnormal language feature	5660	PSAP	ORPHA:309263
HP:4000072	Abnormal language feature	5660	PSAP	ORPHA:309256
HP:4000072	Abnormal language feature	5660	PSAP	OMIM:249900
HP:4000072	Abnormal language feature	10559	SLC35A1	OMIM:603585
HP:4000072	Abnormal language feature	146057	TTBK2	OMIM:604432
HP:4000072	Abnormal language feature	146057	TTBK2	ORPHA:98767
HP:4000072	Abnormal language feature	51816	ADA2	OMIM:182410
HP:4000072	Abnormal language feature	348	APOE	OMIM:607822
HP:4000072	Abnormal language feature	64834	ELOVL1	OMIM:618527
HP:4000072	Abnormal language feature	51308	REEP2	OMIM:620606
HP:4000072	Abnormal language feature	51308	REEP2	OMIM:615625
HP:4000072	Abnormal language feature	311	ANXA11	OMIM:619733
HP:4000072	Abnormal language feature	311	ANXA11	ORPHA:803
HP:4000072	Abnormal language feature	83480	PUS3	ORPHA:488627
HP:4000072	Abnormal language feature	10049	DNAJB6	ORPHA:34516
HP:4000072	Abnormal language feature	343641	TGM6	ORPHA:276193
HP:4000072	Abnormal language feature	343641	TGM6	OMIM:613908
HP:4000072	Abnormal language feature	84504	NKX6-2	OMIM:617560
HP:4000072	Abnormal language feature	84504	NKX6-2	ORPHA:527497
HP:4000072	Abnormal language feature	10935	PRDX3	OMIM:619862
HP:4000072	Abnormal language feature	23312	DMXL2	OMIM:616113
HP:4000072	Abnormal language feature	23312	DMXL2	ORPHA:453533
HP:4000072	Abnormal language feature	246243	RNASEH1	OMIM:616479
HP:4000072	Abnormal language feature	246243	RNASEH1	ORPHA:329336
HP:4000072	Abnormal language feature	51271	UBAP1	OMIM:618418
HP:4000072	Abnormal language feature	51761	ATP8A2	OMIM:615268
HP:4000072	Abnormal language feature	1201	CLN3	OMIM:204200
HP:4000072	Abnormal language feature	54840	APTX	OMIM:208920
HP:4000072	Abnormal language feature	79731	NARS2	OMIM:616239
HP:4000072	Abnormal language feature	6905	TBCE	OMIM:617207
HP:4000072	Abnormal language feature	6905	TBCE	ORPHA:496756
HP:4000072	Abnormal language feature	950	SCARB2	OMIM:254900
HP:4000072	Abnormal language feature	950	SCARB2	ORPHA:308
HP:4000072	Abnormal language feature	4747	NEFL	ORPHA:101085
HP:4000072	Abnormal language feature	5192	PEX10	ORPHA:247815
HP:4000072	Abnormal language feature	5192	PEX10	OMIM:614871
HP:4000072	Abnormal language feature	8622	PDE8B	ORPHA:228169
HP:4000072	Abnormal language feature	8622	PDE8B	OMIM:609161
HP:4000072	Abnormal language feature	9895	TECPR2	OMIM:615031
HP:4000072	Abnormal language feature	9895	TECPR2	ORPHA:320385
HP:4000072	Abnormal language feature	11277	TREX1	OMIM:192315
HP:4000072	Abnormal language feature	23259	DDHD2	OMIM:615033
HP:4000072	Abnormal language feature	23259	DDHD2	ORPHA:320380
HP:4000072	Abnormal language feature	54902	TTC19	OMIM:615157
HP:4000072	Abnormal language feature	391356	PTRHD1	OMIM:620747
HP:4000072	Abnormal language feature	55823	VPS11	OMIM:619637
HP:4000072	Abnormal language feature	2705	GJB1	ORPHA:101075
HP:4000072	Abnormal language feature	2705	GJB1	OMIM:302800
HP:4000072	Abnormal language feature	1822	ATN1	ORPHA:101
HP:4000072	Abnormal language feature	4311	MME	ORPHA:497764
HP:4000072	Abnormal language feature	4311	MME	OMIM:617018
HP:4000072	Abnormal language feature	1615	DARS1	OMIM:615281
HP:4000072	Abnormal language feature	9474	ATG5	OMIM:617584
HP:4000072	Abnormal language feature	50485	SMARCAL1	ORPHA:1830
HP:4000072	Abnormal language feature	6621	SNAPC4	OMIM:620515
HP:4000072	Abnormal language feature	1356	CP	ORPHA:48818
HP:4000072	Abnormal language feature	1356	CP	OMIM:604290
HP:4000072	Abnormal language feature	146227	BEAN1	ORPHA:217012
HP:4000072	Abnormal language feature	146227	BEAN1	OMIM:117210
HP:4000072	Abnormal language feature	57462	MYORG	OMIM:618317
HP:4000072	Abnormal language feature	2729	GCLC	ORPHA:33574
HP:4000072	Abnormal language feature	540	ATP7B	OMIM:277900
HP:4000072	Abnormal language feature	540	ATP7B	ORPHA:905
HP:4000072	Abnormal language feature	10667	FARS2	ORPHA:466722
HP:4000072	Abnormal language feature	4854	NOTCH3	ORPHA:136
HP:4000072	Abnormal language feature	1436	CSF1R	OMIM:221820
HP:4000072	Abnormal language feature	1436	CSF1R	OMIM:618476
HP:4000072	Abnormal language feature	6843	VAMP1	OMIM:618323
HP:4000072	Abnormal language feature	6843	VAMP1	OMIM:108600
HP:4000072	Abnormal language feature	2395	FXN	OMIM:229300
HP:4000072	Abnormal language feature	2395	FXN	ORPHA:95
HP:4000072	Abnormal language feature	404672	GTF2H5	ORPHA:33364
HP:4000072	Abnormal language feature	136647	MPLKIP	ORPHA:33364
HP:4000072	Abnormal language feature	6897	TARS1	ORPHA:33364
HP:4000072	Abnormal language feature	2071	ERCC3	ORPHA:33364
HP:4000072	Abnormal language feature	2071	ERCC3	ORPHA:220295
HP:4000072	Abnormal language feature	2961	GTF2E2	ORPHA:33364
HP:4000072	Abnormal language feature	1967	EIF2B1	OMIM:603896
HP:4000072	Abnormal language feature	5654	HTRA1	OMIM:600142
HP:4000072	Abnormal language feature	85300	ATCAY	OMIM:601238
HP:4000072	Abnormal language feature	85300	ATCAY	ORPHA:94122
HP:4000072	Abnormal language feature	367	AR	ORPHA:481
HP:4000072	Abnormal language feature	367	AR	OMIM:313200
HP:4000072	Abnormal language feature	2512	FTL	ORPHA:157846
HP:4000072	Abnormal language feature	2512	FTL	OMIM:606159
HP:4000072	Abnormal language feature	79734	KCTD17	OMIM:616398
HP:4000072	Abnormal language feature	2583	B4GALNT1	OMIM:609195
HP:4000072	Abnormal language feature	7080	NKX2-1	OMIM:610978
HP:4000072	Abnormal language feature	7080	NKX2-1	ORPHA:209905
HP:4000072	Abnormal language feature	7080	NKX2-1	OMIM:118700
HP:4000072	Abnormal language feature	4594	MMUT	ORPHA:79312
HP:4000072	Abnormal language feature	10371	SEMA3A	ORPHA:478
HP:4000072	Abnormal language feature	81848	SPRY4	ORPHA:478
HP:4000072	Abnormal language feature	23767	FLRT3	ORPHA:478
HP:4000072	Abnormal language feature	128674	PROKR2	ORPHA:478
HP:4000072	Abnormal language feature	79625	NDNF	ORPHA:478
HP:4000072	Abnormal language feature	2253	FGF8	ORPHA:478
HP:4000072	Abnormal language feature	389549	FEZF1	ORPHA:478
HP:4000072	Abnormal language feature	3730	ANOS1	ORPHA:478
HP:4000072	Abnormal language feature	54756	IL17RD	ORPHA:478
HP:4000072	Abnormal language feature	6663	SOX10	ORPHA:478
HP:4000072	Abnormal language feature	285025	CCDC141	ORPHA:478
HP:4000072	Abnormal language feature	60675	PROK2	ORPHA:478
HP:4000072	Abnormal language feature	55636	CHD7	ORPHA:478
HP:4000072	Abnormal language feature	1848	DUSP6	ORPHA:478
HP:4000072	Abnormal language feature	6870	TACR3	ORPHA:478
HP:4000072	Abnormal language feature	55717	WDR11	ORPHA:478
HP:4000072	Abnormal language feature	9394	HS6ST1	ORPHA:478
HP:4000072	Abnormal language feature	8820	HESX1	ORPHA:478
HP:4000072	Abnormal language feature	8822	FGF17	ORPHA:478
HP:4000072	Abnormal language feature	291	SLC25A4	ORPHA:254892
HP:4000072	Abnormal language feature	5428	POLG	ORPHA:254892
HP:4000072	Abnormal language feature	5428	POLG	OMIM:258450
HP:4000072	Abnormal language feature	5428	POLG	ORPHA:254881
HP:4000072	Abnormal language feature	5428	POLG	OMIM:157640
HP:4000072	Abnormal language feature	5428	POLG	ORPHA:94125
HP:4000072	Abnormal language feature	5428	POLG	OMIM:607459
HP:4000072	Abnormal language feature	5428	POLG	ORPHA:70595
HP:4000072	Abnormal language feature	56652	TWNK	ORPHA:254892
HP:4000072	Abnormal language feature	56652	TWNK	OMIM:609286
HP:4000072	Abnormal language feature	56652	TWNK	OMIM:607459
HP:4000072	Abnormal language feature	56652	TWNK	ORPHA:70595
HP:4000072	Abnormal language feature	11232	POLG2	ORPHA:254892
HP:4000072	Abnormal language feature	353116	RILPL1	OMIM:619790
HP:4000072	Abnormal language feature	3155	HMGCL	ORPHA:20
HP:4000072	Abnormal language feature	4728	NDUFS8	OMIM:618222
HP:4000072	Abnormal language feature	374291	NDUFS7	OMIM:618224
HP:4000072	Abnormal language feature	23345	SYNE1	ORPHA:88644
HP:4000072	Abnormal language feature	23345	SYNE1	OMIM:610743
HP:4000072	Abnormal language feature	51117	COQ4	OMIM:620666
HP:4000072	Abnormal language feature	4703	NEB	OMIM:256030
HP:4000072	Abnormal language feature	144165	PRICKLE1	ORPHA:308
HP:4000072	Abnormal language feature	144165	PRICKLE1	OMIM:612437
HP:4000072	Abnormal language feature	27235	COQ2	OMIM:146500
HP:4000072	Abnormal language feature	27235	COQ2	ORPHA:98933
HP:4000072	Abnormal language feature	27235	COQ2	ORPHA:227510
HP:4000072	Abnormal language feature	27235	COQ2	OMIM:607426
HP:4000072	Abnormal language feature	3208	HPCA	ORPHA:99657
HP:4000072	Abnormal language feature	3208	HPCA	OMIM:224500
HP:4000072	Abnormal language feature	6548	SLC9A1	OMIM:616291
HP:4000072	Abnormal language feature	2581	GALC	ORPHA:206443
HP:4000072	Abnormal language feature	81790	RNF170	OMIM:619686
HP:4000072	Abnormal language feature	81790	RNF170	OMIM:608984
HP:4000072	Abnormal language feature	23114	NFASC	OMIM:618356
HP:4000072	Abnormal language feature	25814	ATXN10	OMIM:603516
HP:4000072	Abnormal language feature	25814	ATXN10	ORPHA:98761
HP:4000072	Abnormal language feature	55182	RNF220	OMIM:619688
HP:4000072	Abnormal language feature	63895	PIEZO2	OMIM:617146
HP:4000072	Abnormal language feature	8878	SQSTM1	OMIM:617145
HP:4000072	Abnormal language feature	8878	SQSTM1	ORPHA:275872
HP:4000072	Abnormal language feature	8878	SQSTM1	ORPHA:803
HP:4000072	Abnormal language feature	8878	SQSTM1	OMIM:616437
HP:4000072	Abnormal language feature	79133	NDUFAF5	OMIM:618238
HP:4000072	Abnormal language feature	137682	NDUFAF6	OMIM:618239
HP:4000072	Abnormal language feature	8891	EIF2B3	OMIM:620313
HP:4000072	Abnormal language feature	8890	EIF2B4	OMIM:620314
HP:4000072	Abnormal language feature	8892	EIF2B2	OMIM:620312
HP:4000072	Abnormal language feature	154881	KCTD7	OMIM:611726
HP:4000072	Abnormal language feature	154881	KCTD7	ORPHA:263516
HP:4000072	Abnormal language feature	65055	REEP1	ORPHA:101011
HP:4000072	Abnormal language feature	65055	REEP1	OMIM:610250
HP:4000072	Abnormal language feature	5994	RFXAP	ORPHA:572
HP:4000072	Abnormal language feature	4261	CIITA	ORPHA:572
HP:4000072	Abnormal language feature	5993	RFX5	ORPHA:572
HP:4000072	Abnormal language feature	8625	RFXANK	ORPHA:572
HP:4000072	Abnormal language feature	7084	TK2	ORPHA:254875
HP:4000072	Abnormal language feature	7084	TK2	OMIM:617069
HP:4000072	Abnormal language feature	56915	EXOSC5	OMIM:619576
HP:4000072	Abnormal language feature	4704	NDUFA9	OMIM:618247
HP:4000072	Abnormal language feature	29978	UBQLN2	OMIM:300857
HP:4000072	Abnormal language feature	29978	UBQLN2	ORPHA:803
HP:4000072	Abnormal language feature	80224	NUBPL	OMIM:618242
HP:4000072	Abnormal language feature	267010	RNU12	OMIM:620208
HP:4000072	Abnormal language feature	267010	RNU12	ORPHA:512260
HP:4000072	Abnormal language feature	54834	GDAP2	OMIM:618369
HP:4000072	Abnormal language feature	51704	GPRC5B	OMIM:620447
HP:4000072	Abnormal language feature	361	AQP4	OMIM:620448
HP:4000072	Abnormal language feature	4864	NPC1	OMIM:257220
HP:4000072	Abnormal language feature	4547	MTTP	ORPHA:14
HP:4000072	Abnormal language feature	7703	PCGF2	OMIM:618371
HP:4000072	Abnormal language feature	51102	MECR	OMIM:617282
HP:4000072	Abnormal language feature	51102	MECR	ORPHA:508093
HP:4000072	Abnormal language feature	463	ZFHX3	OMIM:600223
HP:4000072	Abnormal language feature	5903	RANBP2	ORPHA:88619
HP:4000072	Abnormal language feature	1814	DRD3	OMIM:190300
HP:4000072	Abnormal language feature	127833	SYT2	OMIM:619461
HP:4000072	Abnormal language feature	4700	NDUFA6	OMIM:618253
HP:4000072	Abnormal language feature	84668	HYCC1	OMIM:610532
HP:4000072	Abnormal language feature	2065	ERBB3	OMIM:243180
HP:4000072	Abnormal language feature	29967	LRP12	OMIM:620452
HP:4000072	Abnormal language feature	29967	LRP12	OMIM:164310
HP:4000072	Abnormal language feature	1938	EEF2	ORPHA:101112
HP:4000072	Abnormal language feature	1938	EEF2	OMIM:609306
HP:4000072	Abnormal language feature	84265	POLR3GL	OMIM:619234
HP:4000072	Abnormal language feature	65260	COA7	OMIM:618387
HP:4000072	Abnormal language feature	64849	SLC13A3	OMIM:618384
HP:4000072	Abnormal language feature	10846	PDE10A	ORPHA:494526
HP:4000072	Abnormal language feature	10846	PDE10A	OMIM:616921
HP:4000072	Abnormal language feature	7415	VCP	ORPHA:435387
HP:4000072	Abnormal language feature	7415	VCP	OMIM:613954
HP:4000072	Abnormal language feature	7415	VCP	ORPHA:275872
HP:4000072	Abnormal language feature	7415	VCP	ORPHA:803
HP:4000072	Abnormal language feature	7345	UCHL1	OMIM:620221
HP:4000072	Abnormal language feature	246329	STAC3	ORPHA:168572
HP:4000072	Abnormal language feature	378884	NHLRC1	ORPHA:501
HP:4000072	Abnormal language feature	7957	EPM2A	ORPHA:501
HP:4000072	Abnormal language feature	7504	XK	OMIM:300842
HP:4000072	Abnormal language feature	128240	NAXE	OMIM:617186
HP:4000072	Abnormal language feature	23230	VPS13A	OMIM:200150
HP:4000072	Abnormal language feature	23230	VPS13A	ORPHA:2388
HP:4000072	Abnormal language feature	5173	PDYN	ORPHA:101108
HP:4000072	Abnormal language feature	5173	PDYN	OMIM:610245
HP:4000072	Abnormal language feature	55145	THAP1	OMIM:602629
HP:4000072	Abnormal language feature	55145	THAP1	ORPHA:98806
HP:4000072	Abnormal language feature	10939	AFG3L2	ORPHA:101109
HP:4000072	Abnormal language feature	10939	AFG3L2	OMIM:610246
HP:4000072	Abnormal language feature	10939	AFG3L2	OMIM:614487
HP:4000072	Abnormal language feature	79152	FA2H	ORPHA:171629
HP:4000072	Abnormal language feature	79152	FA2H	ORPHA:329308
HP:4000072	Abnormal language feature	79152	FA2H	OMIM:612319
HP:4000072	Abnormal language feature	26278	SACS	OMIM:270550
HP:4000072	Abnormal language feature	26278	SACS	ORPHA:98
HP:4000072	Abnormal language feature	6571	SLC18A2	OMIM:618049
HP:4000072	Abnormal language feature	6571	SLC18A2	ORPHA:352649
HP:4000072	Abnormal language feature	2733	GLE1	OMIM:611890
HP:4000072	Abnormal language feature	2733	GLE1	ORPHA:803
HP:4000072	Abnormal language feature	727676	SNORD118	ORPHA:542310
HP:4000072	Abnormal language feature	727676	SNORD118	OMIM:614561
HP:4000072	Abnormal language feature	875	CBS	OMIM:236200
HP:4000072	Abnormal language feature	5216	PFN1	OMIM:614808
HP:4000072	Abnormal language feature	5216	PFN1	ORPHA:803
HP:4000072	Abnormal language feature	54936	ADPRS	OMIM:618170
HP:4000072	Abnormal language feature	899	CCNF	OMIM:619141
HP:4000072	Abnormal language feature	899	CCNF	ORPHA:803
HP:4000072	Abnormal language feature	129285	PPP1R21	OMIM:619383
HP:4000072	Abnormal language feature	80704	SLC19A3	ORPHA:263410
HP:4000072	Abnormal language feature	80704	SLC19A3	OMIM:607483
HP:4000072	Abnormal language feature	27072	VPS41	OMIM:619389
HP:4000072	Abnormal language feature	27072	VPS41	ORPHA:95434
HP:4000072	Abnormal language feature	25793	FBXO7	OMIM:260300
HP:4000072	Abnormal language feature	341208	HEPHL1	OMIM:261990
HP:4000072	Abnormal language feature	126	ADH1C	OMIM:168600
HP:4000072	Abnormal language feature	4576	MT-TT	OMIM:168600
HP:4000072	Abnormal language feature	9627	SNCAIP	OMIM:168600
HP:4000072	Abnormal language feature	6908	TBP	OMIM:168600
HP:4000072	Abnormal language feature	6908	TBP	OMIM:607136
HP:4000072	Abnormal language feature	6311	ATXN2	OMIM:168600
HP:4000072	Abnormal language feature	6311	ATXN2	OMIM:183090
HP:4000072	Abnormal language feature	6311	ATXN2	ORPHA:98756
HP:4000072	Abnormal language feature	6311	ATXN2	ORPHA:803
HP:4000072	Abnormal language feature	6315	ATXN8OS	OMIM:168600
HP:4000072	Abnormal language feature	6315	ATXN8OS	OMIM:608768
HP:4000072	Abnormal language feature	6622	SNCA	OMIM:168601
HP:4000072	Abnormal language feature	50640	PNPLA8	OMIM:251950
HP:4000072	Abnormal language feature	1639	DCTN1	OMIM:168605
HP:4000072	Abnormal language feature	1639	DCTN1	ORPHA:803
HP:4000072	Abnormal language feature	1639	DCTN1	OMIM:105400
HP:4000072	Abnormal language feature	55129	ANO10	OMIM:613728
HP:4000072	Abnormal language feature	55129	ANO10	ORPHA:284289
HP:4000072	Abnormal language feature	60481	ELOVL5	ORPHA:423296
HP:4000072	Abnormal language feature	60481	ELOVL5	OMIM:615957
HP:4000072	Abnormal language feature	4352	MPL	ORPHA:71493
HP:4000072	Abnormal language feature	7066	THPO	ORPHA:71493
HP:4000072	Abnormal language feature	3717	JAK2	ORPHA:71493
HP:4000072	Abnormal language feature	2643	GCH1	OMIM:128230
HP:4000072	Abnormal language feature	23769	FLRT1	ORPHA:320406
HP:4000072	Abnormal language feature	64837	KLC2	ORPHA:320406
HP:4000072	Abnormal language feature	64837	KLC2	OMIM:609541
HP:4000072	Abnormal language feature	91574	MTRFR	ORPHA:254930
HP:4000072	Abnormal language feature	91574	MTRFR	OMIM:613559
HP:4000072	Abnormal language feature	55532	SLC30A10	ORPHA:309854
HP:4000072	Abnormal language feature	55532	SLC30A10	OMIM:613280
HP:4000072	Abnormal language feature	9782	MATR3	OMIM:606070
HP:4000072	Abnormal language feature	9782	MATR3	ORPHA:600
HP:4000072	Abnormal language feature	9782	MATR3	ORPHA:803
HP:4000072	Abnormal language feature	400916	CHCHD10	OMIM:615911
HP:4000072	Abnormal language feature	400916	CHCHD10	ORPHA:275872
HP:4000072	Abnormal language feature	400916	CHCHD10	ORPHA:803
HP:4000072	Abnormal language feature	785	CACNB4	OMIM:613855
HP:4000072	Abnormal language feature	785	CACNB4	ORPHA:211067
HP:4000072	Abnormal language feature	785	CACNB4	OMIM:607682
HP:4000072	Abnormal language feature	23435	TARDBP	ORPHA:275872
HP:4000072	Abnormal language feature	23435	TARDBP	ORPHA:803
HP:4000072	Abnormal language feature	23435	TARDBP	OMIM:612069
HP:4000072	Abnormal language feature	5111	PCNA	OMIM:615919
HP:4000072	Abnormal language feature	9640	ZNF592	ORPHA:83472
HP:4000072	Abnormal language feature	51324	SPG21	OMIM:248900
HP:4000072	Abnormal language feature	51204	TACO1	OMIM:619052
HP:4000072	Abnormal language feature	4509	MT-ATP8	ORPHA:254913
HP:4000072	Abnormal language feature	514	ATP5F1E	ORPHA:254913
HP:4000072	Abnormal language feature	498	ATP5F1A	ORPHA:254913
HP:4000072	Abnormal language feature	84833	ATP5MK	ORPHA:254913
HP:4000072	Abnormal language feature	91647	ATPAF2	ORPHA:254913
HP:4000072	Abnormal language feature	64207	IRF2BPL	OMIM:618088
HP:4000072	Abnormal language feature	129607	CMPK2	OMIM:621018
HP:4000072	Abnormal language feature	6575	SLC20A2	OMIM:213600
HP:4000072	Abnormal language feature	5159	PDGFRB	OMIM:213600
HP:4000072	Abnormal language feature	9570	GOSR2	OMIM:620166
HP:4000072	Abnormal language feature	9570	GOSR2	OMIM:614018
HP:4000072	Abnormal language feature	7276	TTR	OMIM:105210
HP:4000072	Abnormal language feature	55187	VPS13D	ORPHA:95434
HP:4000072	Abnormal language feature	55187	VPS13D	OMIM:607317
HP:4000072	Abnormal language feature	823	CAPN1	OMIM:616907
HP:4000072	Abnormal language feature	823	CAPN1	ORPHA:488594
HP:4000072	Abnormal language feature	1678	TIMM8A	OMIM:304700
HP:4000072	Abnormal language feature	7466	WFS1	OMIM:222300
HP:4000072	Abnormal language feature	7466	WFS1	ORPHA:3463
HP:4000072	Abnormal language feature	7156	TOP3A	OMIM:618098
HP:4000072	Abnormal language feature	4591	TRIM37	OMIM:253250
HP:4000072	Abnormal language feature	26090	ABHD12	OMIM:612674
HP:4000072	Abnormal language feature	55775	TDP1	OMIM:607250
HP:4000072	Abnormal language feature	60	ACTB	OMIM:607371
HP:4000072	Abnormal language feature	4598	MVK	OMIM:610377
HP:4000072	Abnormal language feature	2259	FGF14	OMIM:620174
HP:4000072	Abnormal language feature	2259	FGF14	ORPHA:98764
HP:4000072	Abnormal language feature	2259	FGF14	OMIM:193003
HP:4000072	Abnormal language feature	3475	IFRD1	ORPHA:98771
HP:4000072	Abnormal language feature	3752	KCND3	ORPHA:98772
HP:4000072	Abnormal language feature	3752	KCND3	OMIM:607346
HP:4000072	Abnormal language feature	339453	TMEM240	ORPHA:98773
HP:4000072	Abnormal language feature	339453	TMEM240	OMIM:607454
HP:4000072	Abnormal language feature	84138	SLC7A6OS	OMIM:619191
HP:4000072	Abnormal language feature	1593	CYP27A1	ORPHA:909
HP:4000072	Abnormal language feature	5828	PEX2	OMIM:614867
HP:4000072	Abnormal language feature	90624	LYRM7	OMIM:615838
HP:4000072	Abnormal language feature	3748	KCNC3	ORPHA:98768
HP:4000072	Abnormal language feature	3748	KCNC3	OMIM:605259
HP:4000072	Abnormal language feature	493856	CISD2	ORPHA:3463
HP:4000072	Abnormal language feature	5582	PRKCG	ORPHA:98763
HP:4000072	Abnormal language feature	5582	PRKCG	OMIM:605361
HP:4000072	Abnormal language feature	25894	PLEKHG4	ORPHA:98765
HP:4000072	Abnormal language feature	10613	ERLIN1	ORPHA:401785
HP:4000072	Abnormal language feature	10613	ERLIN1	OMIM:615681
HP:4000072	Abnormal language feature	23503	ZFYVE26	OMIM:270700
HP:4000072	Abnormal language feature	23503	ZFYVE26	ORPHA:100996
HP:4000072	Abnormal language feature	492	ATP2B3	OMIM:302500
HP:4000072	Abnormal language feature	3251	HPRT1	OMIM:300322
HP:4000072	Abnormal language feature	2934	GSN	ORPHA:85448
HP:4000072	Abnormal language feature	255928	SYT14	ORPHA:284271
HP:4000072	Abnormal language feature	255928	SYT14	OMIM:614229
HP:4000072	Abnormal language feature	9409	PEX16	OMIM:614877
HP:4000072	Abnormal language feature	84919	PPP1R15B	OMIM:616817
HP:4000072	Abnormal language feature	8106	PABPN1	OMIM:164300
HP:4000072	Abnormal language feature	6310	ATXN1	ORPHA:98755
HP:4000072	Abnormal language feature	6310	ATXN1	OMIM:164400
HP:4000072	Abnormal language feature	2937	GSS	OMIM:266130
HP:4000072	Abnormal language feature	10133	OPTN	OMIM:613435
HP:4000072	Abnormal language feature	10133	OPTN	ORPHA:803
HP:4000072	Abnormal language feature	57704	GBA2	OMIM:614409
HP:4000072	Abnormal language feature	200403	VWA3B	OMIM:616948
HP:4000072	Abnormal language feature	4556	MT-TE	ORPHA:2596
HP:4000072	Abnormal language feature	3178	HNRNPA1	ORPHA:803
HP:4000072	Abnormal language feature	8148	TAF15	ORPHA:803
HP:4000072	Abnormal language feature	5445	PON2	ORPHA:803
HP:4000072	Abnormal language feature	9217	VAPB	ORPHA:803
HP:4000072	Abnormal language feature	9217	VAPB	OMIM:608627
HP:4000072	Abnormal language feature	5630	PRPH	ORPHA:803
HP:4000072	Abnormal language feature	5630	PRPH	OMIM:105400
HP:4000072	Abnormal language feature	55830	GLT8D1	ORPHA:803
HP:4000072	Abnormal language feature	755	CFAP410	ORPHA:803
HP:4000072	Abnormal language feature	10891	PPARGC1A	ORPHA:803
HP:4000072	Abnormal language feature	6647	SOD1	ORPHA:803
HP:4000072	Abnormal language feature	6647	SOD1	OMIM:105400
HP:4000072	Abnormal language feature	5444	PON1	ORPHA:803
HP:4000072	Abnormal language feature	5446	PON3	ORPHA:803
HP:4000072	Abnormal language feature	4744	NEFH	ORPHA:803
HP:4000072	Abnormal language feature	4744	NEFH	OMIM:105400
HP:4000072	Abnormal language feature	283	ANG	ORPHA:803
HP:4000072	Abnormal language feature	1610	DAO	ORPHA:803
HP:4000072	Abnormal language feature	2066	ERBB4	ORPHA:803
HP:4000072	Abnormal language feature	23025	UNC13A	ORPHA:803
HP:4000072	Abnormal language feature	6314	ATXN7	ORPHA:94147
HP:4000072	Abnormal language feature	6314	ATXN7	OMIM:164500
HP:4000072	Abnormal language feature	80067	DCAF17	OMIM:241080
HP:4000072	Abnormal language feature	80207	OPA3	OMIM:258501
HP:4000072	Abnormal language feature	80207	OPA3	ORPHA:67047
HP:4000072	Abnormal language feature	79628	SH3TC2	ORPHA:99949
HP:4000072	Abnormal language feature	23064	SETX	OMIM:606002
HP:4000072	Abnormal language feature	4976	OPA1	OMIM:210000
HP:4000072	Abnormal language feature	11128	POLR3A	OMIM:607694
HP:4000072	Abnormal language feature	8729	GBF1	OMIM:606483
HP:4000072	Abnormal language feature	51062	ATL1	ORPHA:100984
HP:4000072	Abnormal language feature	92935	MARS2	OMIM:611390
HP:4000072	Abnormal language feature	6683	SPAST	ORPHA:100985
HP:4000072	Abnormal language feature	9420	CYP7B1	ORPHA:100986
HP:4000072	Abnormal language feature	9420	CYP7B1	OMIM:270800
HP:4000072	Abnormal language feature	5193	PEX12	OMIM:266510
HP:4000072	Abnormal language feature	23600	AMACR	OMIM:614307
HP:4000072	Abnormal language feature	724066	ATXN8	OMIM:608768
HP:4000072	Abnormal language feature	125988	MICOS13	ORPHA:67047
HP:4000072	Abnormal language feature	80347	COASY	OMIM:615643
HP:4000072	Abnormal language feature	80347	COASY	ORPHA:397725
HP:4000072	Abnormal language feature	57505	AARS2	OMIM:615889
HP:4000072	Abnormal language feature	767	CA8	OMIM:613227
HP:4000072	Abnormal language feature	9829	DNAJC6	OMIM:615528
HP:4000072	Abnormal language feature	51218	GLRX5	OMIM:616859
HP:4000072	Abnormal language feature	6331	SCN5A	ORPHA:1344
HP:4000072	Abnormal language feature	4878	NPPA	ORPHA:1344
HP:4000072	Abnormal language feature	4358	MPV17	OMIM:256810
HP:4000072	Abnormal language feature	2058	EPRS1	OMIM:617951
HP:4000072	Abnormal language feature	54974	THG1L	OMIM:618800
HP:4000072	Abnormal language feature	1737	DLAT	ORPHA:79244
HP:4000072	Abnormal language feature	20	ABCA2	OMIM:618808
HP:4000072	Abnormal language feature	1641	DCX	OMIM:300067
HP:4000072	Abnormal language feature	57338	JPH3	OMIM:606438
HP:4000072	Abnormal language feature	953	ENTPD1	ORPHA:401810
HP:4000072	Abnormal language feature	953	ENTPD1	OMIM:615683
HP:4000072	Abnormal language feature	56978	PRDM8	OMIM:616640
HP:4000072	Abnormal language feature	56978	PRDM8	ORPHA:324290
HP:4000072	Abnormal language feature	58494	JAM2	OMIM:618824
HP:4000072	Abnormal language feature	22934	RPIA	OMIM:608611
HP:4000072	Abnormal language feature	203228	C9orf72	OMIM:105550
HP:4000072	Abnormal language feature	7343	UBTF	ORPHA:500180
HP:4000072	Abnormal language feature	9213	XPR1	OMIM:616413
HP:4000072	Abnormal language feature	3295	HSD17B4	OMIM:233400
HP:4000072	Abnormal language feature	2073	ERCC5	ORPHA:220295
HP:4000072	Abnormal language feature	2072	ERCC4	ORPHA:220295
HP:4000072	Abnormal language feature	9499	MYOT	ORPHA:98911
HP:4000072	Abnormal language feature	8292	COLQ	OMIM:603034
HP:4000072	Abnormal language feature	10577	NPC2	OMIM:607625
HP:4000072	Abnormal language feature	210	ALAD	ORPHA:100924
HP:4000072	Abnormal language feature	1203	CLN5	OMIM:256731
HP:4000072	Abnormal language feature	7515	XRCC1	OMIM:617633
HP:4000072	Abnormal language feature	23533	PIK3R5	OMIM:615217
HP:4000072	Abnormal language feature	8086	AAAS	OMIM:231550
HP:4000072	Abnormal language feature	8139	GAN	OMIM:256850
HP:4000072	Abnormal language feature	87178	PNPT1	OMIM:608703
HP:4000072	Abnormal language feature	131669	UROC1	ORPHA:210128
HP:4000072	Abnormal language feature	80169	CTC1	OMIM:612199
HP:4000072	Abnormal language feature	2196	FAT2	OMIM:617769
HP:4000072	Abnormal language feature	2137	EXTL3	ORPHA:508533
HP:4000072	Abnormal language feature	104	ADARB1	OMIM:618862
HP:4000072	Abnormal language feature	2775	GNAO1	OMIM:615473
HP:4000072	Abnormal language feature	2775	GNAO1	OMIM:617493
HP:4000072	Abnormal language feature	51569	UFM1	OMIM:617899
HP:4000072	Abnormal language feature	7360	UGP2	OMIM:618744
HP:4000072	Abnormal language feature	5927	KDM5A	OMIM:620820
HP:4000072	Abnormal language feature	79848	CSPP1	ORPHA:397715
HP:4000072	Abnormal language feature	9786	KIAA0586	ORPHA:397715
HP:4000072	Abnormal language feature	65993	MRPS34	OMIM:617664
HP:4000072	Abnormal language feature	387787	LIPT2	OMIM:617668
HP:4000072	Abnormal language feature	166378	AFG2A	OMIM:616577
HP:4000072	Abnormal language feature	166378	AFG2A	ORPHA:457351
HP:4000072	Abnormal language feature	65082	VPS33A	OMIM:617303
HP:4000072	Abnormal language feature	65082	VPS33A	ORPHA:505248
HP:4000072	Abnormal language feature	10565	ARFGEF1	OMIM:619964
HP:4000072	Abnormal language feature	150094	SIK1	OMIM:616341
HP:4000072	Abnormal language feature	170825	GSX2	OMIM:618646
HP:4000072	Abnormal language feature	7920	ABHD16A	OMIM:619735
HP:4000072	Abnormal language feature	283987	HID1	OMIM:619983
HP:4000072	Abnormal language feature	22884	WDR37	OMIM:618652
HP:4000072	Abnormal language feature	55361	PI4K2A	OMIM:620732
HP:4000072	Abnormal language feature	84879	MFSD2A	OMIM:616486
HP:4000072	Abnormal language feature	27089	UQCRQ	OMIM:615159
HP:4000072	Abnormal language feature	57282	SLC4A10	OMIM:620746
HP:4000072	Abnormal language feature	4191	MDH2	OMIM:617339
HP:4000072	Abnormal language feature	54828	BCAS3	OMIM:619641
HP:4000072	Abnormal language feature	3800	KIF5C	OMIM:615282
HP:4000072	Abnormal language feature	122961	ISCA2	OMIM:616370
HP:4000072	Abnormal language feature	253959	RALGAPA1	OMIM:618797
HP:4000072	Abnormal language feature	2904	GRIN2B	OMIM:616139
HP:4000072	Abnormal language feature	9562	MINPP1	OMIM:619527
HP:4000072	Abnormal language feature	2258	FGF13	OMIM:301095
HP:4000072	Abnormal language feature	57192	MCOLN1	ORPHA:578
HP:4000072	Abnormal language feature	57192	MCOLN1	OMIM:252650
HP:4000072	Abnormal language feature	23556	PIGN	OMIM:614080
HP:4000072	Abnormal language feature	9922	IQSEC1	OMIM:618687
HP:4000072	Abnormal language feature	284098	PIGW	OMIM:616025
HP:4000072	Abnormal language feature	51227	PIGP	OMIM:617599
HP:4000072	Abnormal language feature	23499	MACF1	OMIM:618325
HP:4000072	Abnormal language feature	51645	PPIL1	OMIM:619301
HP:4000072	Abnormal language feature	58497	PRUNE1	OMIM:617481
HP:4000072	Abnormal language feature	58497	PRUNE1	ORPHA:544469
HP:4000072	Abnormal language feature	26173	INTS1	OMIM:618571
HP:4000072	Abnormal language feature	55656	INTS8	OMIM:618572
HP:4000072	Abnormal language feature	3658	IREB2	OMIM:618451
HP:4000072	Abnormal language feature	51693	TRAPPC2L	OMIM:618331
HP:4000072	Abnormal language feature	81603	TRIM8	OMIM:619428
HP:4000072	Abnormal language feature	5277	PIGA	OMIM:301072
HP:4000072	Abnormal language feature	5277	PIGA	OMIM:300868
HP:4000072	Abnormal language feature	8925	HERC1	OMIM:617011
HP:4000072	Abnormal language feature	8925	HERC1	ORPHA:457359
HP:4000072	Abnormal language feature	84894	LINGO1	OMIM:618103
HP:4000072	Abnormal language feature	54892	NCAPG2	OMIM:618460
HP:4000072	Abnormal language feature	8573	CASK	OMIM:300749
HP:4000072	Abnormal language feature	8573	CASK	ORPHA:163937
HP:4000072	Abnormal language feature	92335	STRADA	ORPHA:500533
HP:4000072	Abnormal language feature	92335	STRADA	OMIM:611087
HP:4000072	Abnormal language feature	8818	DPM2	ORPHA:329178
HP:4000072	Abnormal language feature	9526	MPDU1	OMIM:609180
HP:4000072	Abnormal language feature	10733	PLK4	OMIM:616171
HP:4000072	Abnormal language feature	57520	HECW2	OMIM:617268
HP:4000072	Abnormal language feature	25885	POLR1A	OMIM:620675
HP:4000072	Abnormal language feature	8869	ST3GAL5	OMIM:609056
HP:4000072	Abnormal language feature	23221	RHOBTB2	OMIM:618004
HP:4000072	Abnormal language feature	112939	NACC1	OMIM:617393
HP:4000072	Abnormal language feature	7965	AIMP2	OMIM:618006
HP:4000072	Abnormal language feature	3376	IARS1	ORPHA:541423
HP:4000072	Abnormal language feature	3376	IARS1	OMIM:617093
HP:4000072	Abnormal language feature	51608	GET4	OMIM:620200
HP:4000072	Abnormal language feature	8604	SLC25A12	OMIM:612949
HP:4000072	Abnormal language feature	6821	SUOX	OMIM:272300
HP:4000072	Abnormal language feature	23258	DENND5A	OMIM:617281
HP:4000072	Abnormal language feature	389856	USP27X	OMIM:300984
HP:4000072	Abnormal language feature	3188	HNRNPH2	OMIM:300986
HP:4000072	Abnormal language feature	5281	PIGF	OMIM:619356
HP:4000072	Abnormal language feature	57003	CCDC47	OMIM:618268
HP:4000072	Abnormal language feature	94005	PIGS	OMIM:618143
HP:4000072	Abnormal language feature	10682	EBP	OMIM:300960
HP:4000072	Abnormal language feature	22983	MAST1	OMIM:618273
HP:4000072	Abnormal language feature	23287	AGTPBP1	OMIM:618276
HP:4000072	Abnormal language feature	79143	MBOAT7	OMIM:617188
HP:4000072	Abnormal language feature	57038	RARS2	OMIM:611523
HP:4000072	Abnormal language feature	8911	CACNA1I	OMIM:620114
HP:4000072	Abnormal language feature	777	CACNA1E	OMIM:618285
HP:4000072	Abnormal language feature	55835	CPAP	OMIM:608393
HP:4000072	Abnormal language feature	55005	RMND1	OMIM:614922
HP:4000072	Abnormal language feature	25913	POT1	OMIM:620368
HP:4000072	Abnormal language feature	84081	NSRP1	OMIM:620001
HP:4000072	Abnormal language feature	124454	EARS2	OMIM:614924
HP:4000072	Abnormal language feature	1795	DOCK3	OMIM:618292
HP:4000072	Abnormal language feature	3735	KARS1	OMIM:619147
HP:4000072	Abnormal language feature	3735	KARS1	ORPHA:3240
HP:4000072	Abnormal language feature	56947	MFF	OMIM:617086
HP:4000072	Abnormal language feature	1496	CTNNA2	OMIM:618174
HP:4000072	Abnormal language feature	199857	ALG14	OMIM:619031
HP:4000072	Abnormal language feature	1183	CLCN4	OMIM:300114
HP:4000072	Abnormal language feature	347734	SLC35B2	OMIM:620269
HP:4000072	Abnormal language feature	55325	UFSP2	OMIM:620028
HP:4000072	Abnormal language feature	1119	CHKA	OMIM:620023
HP:4000072	Abnormal language feature	8496	PPFIBP1	OMIM:620024
HP:4000072	Abnormal language feature	6531	SLC6A3	ORPHA:238455
HP:4000072	Abnormal language feature	89910	UBE3B	OMIM:244450
HP:4000072	Abnormal language feature	51506	UFC1	OMIM:618076
HP:4000072	Abnormal language feature	5689	PSMB1	OMIM:620038
HP:4000072	Abnormal language feature	57582	KCNT1	OMIM:614959
HP:4000072	Abnormal language feature	271	AMPD2	OMIM:615809
HP:4000072	Abnormal language feature	114034	TOE1	OMIM:614969
HP:4000072	Abnormal language feature	894	CCND2	OMIM:615938
HP:4000072	Abnormal language feature	6597	SMARCA4	OMIM:614609
HP:4000072	Abnormal language feature	6597	SMARCA4	ORPHA:1465
HP:4000072	Abnormal language feature	23116	TOGARAM1	OMIM:619185
HP:4000072	Abnormal language feature	79583	TMEM231	OMIM:614970
HP:4000072	Abnormal language feature	26005	C2CD3	OMIM:615948
HP:4000072	Abnormal language feature	84947	SERAC1	OMIM:614739
HP:4000072	Abnormal language feature	7025	NR2F1	ORPHA:401777
HP:4000072	Abnormal language feature	9255	AIMP1	OMIM:260600
HP:4000072	Abnormal language feature	54499	TMCO1	OMIM:213980
HP:4000072	Abnormal language feature	93210	PGAP3	OMIM:615716
HP:4000072	Abnormal language feature	83475	DOHH	OMIM:620066
HP:4000072	Abnormal language feature	51611	DPH5	OMIM:620070
HP:4000072	Abnormal language feature	5700	PSMC1	OMIM:620071
HP:4000072	Abnormal language feature	440138	ALG11	OMIM:613661
HP:4000072	Abnormal language feature	3187	HNRNPH1	OMIM:620083
HP:4000072	Abnormal language feature	7355	SLC35A2	OMIM:300896
HP:4000072	Abnormal language feature	50628	GEMIN4	OMIM:617913
HP:4000072	Abnormal language feature	7407	VARS1	OMIM:617802
HP:4000072	Abnormal language feature	9230	RAB11B	OMIM:617807
HP:4000072	Abnormal language feature	51807	TUBA8	ORPHA:250972
HP:4000072	Abnormal language feature	22845	DOLK	ORPHA:91131
HP:4000072	Abnormal language feature	79587	CARS2	ORPHA:477774
HP:4000072	Abnormal language feature	84162	BLTP1	OMIM:617822
HP:4000072	Abnormal language feature	7280	TUBB2A	OMIM:615763
HP:4000072	Abnormal language feature	51010	EXOSC3	OMIM:614678
HP:4000072	Abnormal language feature	9512	PMPCB	OMIM:617954
HP:4000072	Abnormal language feature	6664	SOX11	ORPHA:1465
HP:4000072	Abnormal language feature	51185	CRBN	OMIM:607417
HP:4000072	Abnormal language feature	55969	RAB5IF	OMIM:616994
HP:4000072	Abnormal language feature	51501	HIKESHI	OMIM:616881
HP:4000072	Abnormal language feature	55180	LINS1	OMIM:614340
HP:4000072	Abnormal language feature	22931	RAB18	OMIM:614222
HP:4000072	Abnormal language feature	56270	WDR45B	OMIM:617977
HP:4000072	Abnormal language feature	6182	MRPL12	OMIM:618951
HP:4000072	Abnormal language feature	200894	ARL13B	OMIM:612291
HP:4000072	Abnormal language feature	122553	TRAPPC6B	OMIM:617862
HP:4000072	Abnormal language feature	9918	NCAPD2	OMIM:617983
HP:4000072	Abnormal language feature	57688	ZSWIM6	OMIM:617865
HP:4000072	Abnormal language feature	2893	GRIA4	OMIM:617864
HP:4000072	Abnormal language feature	79867	TCTN2	OMIM:616654
HP:4000072	Abnormal language feature	55704	CCDC88A	OMIM:617507
HP:4000072	Abnormal language feature	55164	SHQ1	OMIM:619922
HP:4000072	Abnormal language feature	3756	KCNH1	ORPHA:420561
HP:4000072	Abnormal language feature	9197	SLC33A1	OMIM:614482
HP:4000072	Abnormal language feature	57731	SPTBN4	OMIM:617519
HP:4000072	Abnormal language feature	9990	SLC12A6	OMIM:218000
HP:4000072	Abnormal language feature	57190	SELENON	ORPHA:324604
HP:4000072	Abnormal language feature	57190	SELENON	OMIM:602771
HP:4000072	Abnormal language feature	4625	MYH7	ORPHA:324604
HP:4000072	Abnormal language feature	5034	P4HB	OMIM:112240
HP:4000072	Abnormal language feature	3704	ITPA	OMIM:616647
HP:4000072	Abnormal language feature	4000	LMNA	ORPHA:740
HP:4000072	Abnormal language feature	10269	ZMPSTE24	ORPHA:740
HP:4000072	Abnormal language feature	5932	RBBP8	OMIM:606744
HP:4000072	Abnormal language feature	54453	RIN2	ORPHA:217335
HP:4000072	Abnormal language feature	54453	RIN2	OMIM:613075
HP:4000072	Abnormal language feature	9871	SEC24D	OMIM:616294
HP:4000072	Abnormal language feature	2690	GHR	OMIM:262500
HP:4000072	Abnormal language feature	2690	GHR	ORPHA:633
HP:4000072	Abnormal language feature	10651	MTX2	OMIM:619127
HP:4000072	Abnormal language feature	641	BLM	OMIM:210900
HP:4000072	Abnormal language feature	7486	WRN	OMIM:277700
HP:4000072	Abnormal language feature	6777	STAT5B	OMIM:245590
HP:4000072	Abnormal language feature	4193	MDM2	OMIM:618681
HP:4000072	Abnormal language feature	5116	PCNT	ORPHA:2637
HP:4000072	Abnormal language feature	5116	PCNT	OMIM:210720
HP:4000072	Abnormal language feature	51594	NBAS	OMIM:614800
HP:4000072	Abnormal language feature	63901	FAM111A	OMIM:127000
HP:4000072	Abnormal language feature	63901	FAM111A	ORPHA:93325
HP:4000072	Abnormal language feature	9927	MFN2	OMIM:617087
HP:4000072	Abnormal language feature	1501	CTNND2	ORPHA:281
HP:4000072	Abnormal language feature	9037	SEMA5A	ORPHA:281
HP:4000072	Abnormal language feature	1140	CHRNB1	OMIM:616313
HP:4000072	Abnormal language feature	5000	ORC4	OMIM:613800
HP:4000072	Abnormal language feature	25886	POC1A	OMIM:614813
HP:4000072	Abnormal language feature	871	SERPINH1	OMIM:613848
HP:4000072	Abnormal language feature	1374	CPT1A	ORPHA:156
HP:4000072	Abnormal language feature	25978	CHMP2B	ORPHA:100069
HP:4000072	Abnormal language feature	5663	PSEN1	ORPHA:100069
HP:4000072	Abnormal language feature	2896	GRN	ORPHA:100069
HP:4000072	Abnormal language feature	54664	TMEM106B	ORPHA:100069
HP:4000072	Abnormal language feature	4137	MAPT	ORPHA:100069
HP:4000072	Abnormal language feature	4137	MAPT	ORPHA:240085
HP:4000072	Abnormal language feature	4137	MAPT	ORPHA:240112
HP:4000072	Abnormal language feature	54209	TREM2	ORPHA:100069
HP:4000072	Abnormal language feature	54209	TREM2	ORPHA:2770
HP:4000072	Abnormal language feature	23394	ADNP	ORPHA:404448
HP:4000072	Abnormal language feature	4621	MYH3	ORPHA:2053
HP:4000072	Abnormal language feature	259232	NALCN	ORPHA:2053
HP:4000072	Abnormal language feature	161582	DNAAF4	OMIM:127700
HP:4000072	Abnormal language feature	4204	MECP2	ORPHA:1762
HP:4000072	Abnormal language feature	3766	KCNJ10	ORPHA:705
HP:4000072	Abnormal language feature	2299	FOXI1	ORPHA:705
HP:4000072	Abnormal language feature	5172	SLC26A4	ORPHA:705
HP:4000072	Abnormal language feature	9881	TRANK1	ORPHA:33543
HP:4000072	Abnormal language feature	6916	TBXAS1	ORPHA:1802
HP:4000072	Abnormal language feature	51	ACOX1	ORPHA:2971
HP:4000072	Abnormal language feature	4072	EPCAM	ORPHA:144
HP:4000072	Abnormal language feature	4292	MLH1	ORPHA:144
HP:4000072	Abnormal language feature	5395	PMS2	ORPHA:144
HP:4000072	Abnormal language feature	7048	TGFBR2	ORPHA:144
HP:4000072	Abnormal language feature	3845	KRAS	ORPHA:144
HP:4000072	Abnormal language feature	3845	KRAS	ORPHA:1340
HP:4000072	Abnormal language feature	3845	KRAS	ORPHA:2396
HP:4000072	Abnormal language feature	3845	KRAS	ORPHA:648
HP:4000072	Abnormal language feature	5290	PIK3CA	ORPHA:144
HP:4000072	Abnormal language feature	5290	PIK3CA	ORPHA:2495
HP:4000072	Abnormal language feature	2956	MSH6	ORPHA:144
HP:4000072	Abnormal language feature	5378	PMS1	ORPHA:144
HP:4000072	Abnormal language feature	4436	MSH2	ORPHA:144
HP:4000072	Abnormal language feature	64218	SEMA4A	ORPHA:440437
HP:4000072	Abnormal language feature	472	ATM	ORPHA:440437
HP:4000072	Abnormal language feature	472	ATM	ORPHA:100
HP:4000072	Abnormal language feature	5426	POLE	ORPHA:440437
HP:4000072	Abnormal language feature	675	BRCA2	ORPHA:440437
HP:4000072	Abnormal language feature	657	BMPR1A	ORPHA:440437
HP:4000072	Abnormal language feature	6224	RPS20	ORPHA:440437
HP:4000072	Abnormal language feature	4595	MUTYH	ORPHA:440437
HP:4000072	Abnormal language feature	5424	POLD1	ORPHA:440437
HP:4000072	Abnormal language feature	11200	CHEK2	ORPHA:440437
HP:4000072	Abnormal language feature	22880	MORC2	ORPHA:466768
HP:4000072	Abnormal language feature	4552	MTRR	ORPHA:2169
HP:4000072	Abnormal language feature	100996717	NOTCH2NLC	ORPHA:2289
HP:4000072	Abnormal language feature	224	ALDH3A2	ORPHA:816
HP:4000072	Abnormal language feature	2314	FLII	ORPHA:819
HP:4000072	Abnormal language feature	23096	IQSEC2	ORPHA:819
HP:4000072	Abnormal language feature	10743	RAI1	ORPHA:819
HP:4000072	Abnormal language feature	10522	DEAF1	ORPHA:819
HP:4000072	Abnormal language feature	5818	NECTIN1	ORPHA:3253
HP:4000072	Abnormal language feature	4758	NEU1	ORPHA:812
HP:4000072	Abnormal language feature	51114	ZDHHC9	ORPHA:776
HP:4000072	Abnormal language feature	65109	UPF3B	ORPHA:776
HP:4000072	Abnormal language feature	9968	MED12	ORPHA:776
HP:4000072	Abnormal language feature	7337	UBE3A	ORPHA:98794
HP:4000072	Abnormal language feature	7337	UBE3A	ORPHA:98795
HP:4000072	Abnormal language feature	7337	UBE3A	ORPHA:411511
HP:4000072	Abnormal language feature	4948	OCA2	ORPHA:98794
HP:4000072	Abnormal language feature	2895	GRID2	ORPHA:363432
HP:4000072	Abnormal language feature	3039	HBA1	ORPHA:98791
HP:4000072	Abnormal language feature	3040	HBA2	ORPHA:98791
HP:4000072	Abnormal language feature	1600	DAB1	ORPHA:363710
HP:4000072	Abnormal language feature	215	ABCD1	ORPHA:139396
HP:4000072	Abnormal language feature	10352	WARS2	OMIM:617710
HP:4000072	Abnormal language feature	10352	WARS2	ORPHA:572798
HP:4000072	Abnormal language feature	3034	HAL	ORPHA:2157
HP:4000072	Abnormal language feature	55157	DARS2	ORPHA:137898
HP:4000072	Abnormal language feature	93986	FOXP2	ORPHA:209908
HP:4000072	Abnormal language feature	93986	FOXP2	ORPHA:251061
HP:4000072	Abnormal language feature	5604	MAP2K1	ORPHA:1340
HP:4000072	Abnormal language feature	5605	MAP2K2	ORPHA:1340
HP:4000072	Abnormal language feature	673	BRAF	ORPHA:1340
HP:4000072	Abnormal language feature	2260	FGFR1	ORPHA:2396
HP:4000072	Abnormal language feature	5080	PAX6	ORPHA:1065
HP:4000072	Abnormal language feature	3708	ITPR1	ORPHA:1065
HP:4000072	Abnormal language feature	84100	ARL6	OMIM:209900
HP:4000072	Abnormal language feature	84100	ARL6	ORPHA:110
HP:4000072	Abnormal language feature	79140	CCDC28B	OMIM:209900
HP:4000072	Abnormal language feature	582	BBS1	OMIM:209900
HP:4000072	Abnormal language feature	582	BBS1	ORPHA:110
HP:4000072	Abnormal language feature	2911	GRM1	ORPHA:324262
HP:4000072	Abnormal language feature	2138	EYA1	ORPHA:2792
HP:4000072	Abnormal language feature	5075	PAX1	ORPHA:2792
HP:4000072	Abnormal language feature	8200	GDF5	ORPHA:968
HP:4000072	Abnormal language feature	773	CACNA1A	ORPHA:569
HP:4000072	Abnormal language feature	112476	PRRT2	ORPHA:569
HP:4000072	Abnormal language feature	112476	PRRT2	ORPHA:98810
HP:4000072	Abnormal language feature	6323	SCN1A	ORPHA:569
HP:4000072	Abnormal language feature	477	ATP1A2	ORPHA:569
HP:4000072	Abnormal language feature	8260	NAA10	ORPHA:568
HP:4000072	Abnormal language feature	54880	BCOR	ORPHA:568
HP:4000072	Abnormal language feature	6898	TAT	ORPHA:28378
HP:4000072	Abnormal language feature	7274	TTPA	ORPHA:96
HP:4000072	Abnormal language feature	54476	RNF216	ORPHA:1173
HP:4000072	Abnormal language feature	10908	PNPLA6	ORPHA:1173
HP:4000072	Abnormal language feature	7852	CXCR4	ORPHA:51636
HP:4000072	Abnormal language feature	4330	MN1	OMIM:618774
HP:4000072	Abnormal language feature	4126	MANBA	OMIM:248510
HP:4000072	Abnormal language feature	2475	MTOR	ORPHA:457485
HP:4000072	Abnormal language feature	7020	TFAP2A	ORPHA:1297
HP:4000072	Abnormal language feature	175	AGA	ORPHA:93
HP:4000072	Abnormal language feature	64374	SIL1	ORPHA:559
HP:4000072	Abnormal language feature	383	ARG1	ORPHA:90
HP:4000072	Abnormal language feature	2629	GBA1	OMIM:231000
HP:4000072	Abnormal language feature	25953	PNKD	ORPHA:98810
HP:4000072	Abnormal language feature	23476	BRD4	ORPHA:199
HP:4000072	Abnormal language feature	9126	SMC3	ORPHA:199
HP:4000072	Abnormal language feature	8243	SMC1A	ORPHA:199
HP:4000072	Abnormal language feature	6878	TAF6	ORPHA:199
HP:4000072	Abnormal language feature	25836	NIPBL	ORPHA:199
HP:4000072	Abnormal language feature	55869	HDAC8	ORPHA:199
HP:4000072	Abnormal language feature	5885	RAD21	ORPHA:199
HP:4000072	Abnormal language feature	92482	BBIP1	ORPHA:110
HP:4000072	Abnormal language feature	80184	CEP290	ORPHA:110
HP:4000072	Abnormal language feature	11020	IFT27	ORPHA:110
HP:4000072	Abnormal language feature	49855	SCAPER	ORPHA:110
HP:4000072	Abnormal language feature	4867	NPHP1	ORPHA:110
HP:4000072	Abnormal language feature	51057	WDPCP	ORPHA:110
HP:4000072	Abnormal language feature	132320	SCLT1	ORPHA:110
HP:4000072	Abnormal language feature	27241	BBS9	ORPHA:110
HP:4000072	Abnormal language feature	84984	CEP19	ORPHA:110
HP:4000072	Abnormal language feature	22954	TRIM32	ORPHA:110
HP:4000072	Abnormal language feature	54903	MKS1	ORPHA:110
HP:4000072	Abnormal language feature	79738	BBS10	ORPHA:110
HP:4000072	Abnormal language feature	123016	TTC8	ORPHA:110
HP:4000072	Abnormal language feature	26160	IFT172	ORPHA:110
HP:4000072	Abnormal language feature	583	BBS2	ORPHA:110
HP:4000072	Abnormal language feature	585	BBS4	ORPHA:110
HP:4000072	Abnormal language feature	8195	MKKS	ORPHA:110
HP:4000072	Abnormal language feature	54585	LZTFL1	ORPHA:110
HP:4000072	Abnormal language feature	55212	BBS7	ORPHA:110
HP:4000072	Abnormal language feature	166379	BBS12	ORPHA:110
HP:4000072	Abnormal language feature	10806	SDCCAG8	ORPHA:110
HP:4000072	Abnormal language feature	157657	CFAP418	ORPHA:110
HP:4000072	Abnormal language feature	129880	BBS5	ORPHA:110
HP:4000072	Abnormal language feature	80173	IFT74	ORPHA:110
HP:4000072	Abnormal language feature	6197	RPS6KA3	ORPHA:192
HP:4000072	Abnormal language feature	157680	VPS13B	ORPHA:193
HP:4000072	Abnormal language feature	6711	SPTBN1	OMIM:619475
HP:4000072	Abnormal language feature	2332	FMR1	ORPHA:908
HP:4000072	Abnormal language feature	116442	RAB39B	ORPHA:2379
HP:4000072	Abnormal language feature	6804	STX1A	ORPHA:904
HP:4000072	Abnormal language feature	7461	CLIP2	ORPHA:904
HP:4000072	Abnormal language feature	84277	DNAJC30	ORPHA:904
HP:4000072	Abnormal language feature	8468	FKBP6	ORPHA:904
HP:4000072	Abnormal language feature	5982	RFC2	ORPHA:904
HP:4000072	Abnormal language feature	2969	GTF2I	ORPHA:904
HP:4000072	Abnormal language feature	3984	LIMK1	ORPHA:904
HP:4000072	Abnormal language feature	9569	GTF2IRD1	ORPHA:904
HP:4000072	Abnormal language feature	155382	VPS37D	ORPHA:904
HP:4000072	Abnormal language feature	155368	METTL27	ORPHA:904
HP:4000072	Abnormal language feature	114049	BUD23	ORPHA:904
HP:4000072	Abnormal language feature	7458	EIF4H	ORPHA:904
HP:4000072	Abnormal language feature	84163	GTF2IRD2	ORPHA:904
HP:4000072	Abnormal language feature	26608	TBL2	ORPHA:904
HP:4000072	Abnormal language feature	653361	NCF1	ORPHA:904
HP:4000072	Abnormal language feature	135886	TMEM270	ORPHA:904
HP:4000072	Abnormal language feature	9031	BAZ1B	ORPHA:904
HP:4000072	Abnormal language feature	2006	ELN	ORPHA:904
HP:4000072	Abnormal language feature	4983	OPHN1	ORPHA:137831
HP:4000072	Abnormal language feature	8314	BAP1	ORPHA:2495
HP:4000072	Abnormal language feature	4771	NF2	ORPHA:2495
HP:4000072	Abnormal language feature	6598	SMARCB1	ORPHA:2495
HP:4000072	Abnormal language feature	5155	PDGFB	ORPHA:2495
HP:4000072	Abnormal language feature	84231	TRAF7	ORPHA:2495
HP:4000072	Abnormal language feature	6608	SMO	ORPHA:2495
HP:4000072	Abnormal language feature	207	AKT1	ORPHA:2495
HP:4000072	Abnormal language feature	7015	TERT	ORPHA:2495
HP:4000072	Abnormal language feature	51684	SUFU	ORPHA:2495
HP:4000072	Abnormal language feature	6605	SMARCE1	ORPHA:2495
HP:4000072	Abnormal language feature	5728	PTEN	ORPHA:109
HP:4000072	Abnormal language feature	7305	TYROBP	ORPHA:2770
HP:4000072	Abnormal language feature	7305	TYROBP	OMIM:221770
HP:4000072	Abnormal language feature	5590	PRKCZ	ORPHA:1606
HP:4000072	Abnormal language feature	2563	GABRD	ORPHA:1606
HP:4000072	Abnormal language feature	23013	SPEN	ORPHA:1606
HP:4000072	Abnormal language feature	8510	MMP23B	ORPHA:1606
HP:4000072	Abnormal language feature	7798	LUZP1	ORPHA:1606
HP:4000072	Abnormal language feature	6497	SKI	ORPHA:1606
HP:4000072	Abnormal language feature	10630	PDPN	ORPHA:1606
HP:4000072	Abnormal language feature	3339	HSPG2	ORPHA:1606
HP:4000072	Abnormal language feature	3339	HSPG2	ORPHA:800
HP:4000072	Abnormal language feature	10277	UBE4B	ORPHA:1606
HP:4000072	Abnormal language feature	8514	KCNAB2	ORPHA:1606
HP:4000072	Abnormal language feature	473	RERE	ORPHA:1606
HP:4000072	Abnormal language feature	63976	PRDM16	ORPHA:1606
HP:4000072	Abnormal language feature	54897	CASZ1	ORPHA:1606
HP:4000072	Abnormal language feature	6899	TBX1	ORPHA:1727
HP:4000072	Abnormal language feature	5354	PLP1	ORPHA:280219
HP:4000072	Abnormal language feature	5354	PLP1	ORPHA:280229
HP:4000072	Abnormal language feature	7040	TGFB1	ORPHA:1328
HP:4000072	Abnormal language feature	148789	B3GALNT2	ORPHA:588
HP:4000072	Abnormal language feature	29925	GMPPB	ORPHA:588
HP:4000072	Abnormal language feature	79147	FKRP	ORPHA:588
HP:4000072	Abnormal language feature	9215	LARGE1	ORPHA:588
HP:4000072	Abnormal language feature	29954	POMT2	ORPHA:588
HP:4000072	Abnormal language feature	2218	FKTN	ORPHA:588
HP:4000072	Abnormal language feature	729920	CRPPA	ORPHA:588
HP:4000072	Abnormal language feature	55624	POMGNT1	ORPHA:588
HP:4000072	Abnormal language feature	10585	POMT1	ORPHA:588
HP:4000072	Abnormal language feature	2521	FUS	ORPHA:300605
HP:4000072	Abnormal language feature	80208	SPG11	ORPHA:300605
HP:4000072	Abnormal language feature	10280	SIGMAR1	ORPHA:300605
HP:4000072	Abnormal language feature	10558	SPTLC1	ORPHA:300605
HP:4000072	Abnormal language feature	57679	ALS2	ORPHA:300605
HP:4000072	Abnormal language feature	57679	ALS2	OMIM:205100
HP:4000072	Abnormal language feature	2312	FLG	ORPHA:461
HP:4000072	Abnormal language feature	412	STS	ORPHA:461
HP:4000072	Abnormal language feature	22	ABCB7	ORPHA:2802
HP:4000072	Abnormal language feature	8450	CUL4B	ORPHA:85293
HP:4000072	Abnormal language feature	84033	OBSCN	ORPHA:99845
HP:4000072	Abnormal language feature	23175	LPIN1	ORPHA:99845
HP:4000072	Abnormal language feature	4512	MT-CO1	ORPHA:99845
HP:4000072	Abnormal language feature	4514	MT-CO3	ORPHA:99845
HP:4000072	Abnormal language feature	55906	ZC4H2	ORPHA:3454
HP:4000072	Abnormal language feature	6785	ELOVL4	ORPHA:1955
HP:4000072	Abnormal language feature	440193	CCDC88C	ORPHA:423275
HP:4000072	Abnormal language feature	2271	FH	OMIM:606812
HP:4000072	Abnormal language feature	1650	DDOST	ORPHA:300536
HP:4000072	Abnormal language feature	5295	PIK3R1	ORPHA:3163
HP:4000072	Abnormal language feature	2239	GPC4	ORPHA:373
HP:4000072	Abnormal language feature	2719	GPC3	ORPHA:373
HP:4000072	Abnormal language feature	4508	MT-ATP6	ORPHA:225154
HP:4000072	Abnormal language feature	23636	NUP62	ORPHA:225154
HP:4000072	Abnormal language feature	53371	NUP54	ORPHA:225154
HP:4000072	Abnormal language feature	103	ADAR	ORPHA:225154
HP:4000072	Abnormal language feature	80025	PANK2	ORPHA:216873
HP:4000072	Abnormal language feature	10273	STUB1	ORPHA:412057
HP:4000072	Abnormal language feature	25974	MMACHC	ORPHA:79282
HP:4000072	Abnormal language feature	2624	GATA2	ORPHA:228423
HP:4000072	Abnormal language feature	22800	RRAS2	ORPHA:648
HP:4000072	Abnormal language feature	867	CBL	ORPHA:648
HP:4000072	Abnormal language feature	8216	LZTR1	ORPHA:648
HP:4000072	Abnormal language feature	6016	RIT1	ORPHA:648
HP:4000072	Abnormal language feature	6237	RRAS	ORPHA:648
HP:4000072	Abnormal language feature	5894	RAF1	ORPHA:648
HP:4000072	Abnormal language feature	22808	MRAS	ORPHA:648
HP:4000072	Abnormal language feature	200734	SPRED2	ORPHA:648
HP:4000072	Abnormal language feature	4893	NRAS	ORPHA:648
HP:4000072	Abnormal language feature	6654	SOS1	ORPHA:648
HP:4000072	Abnormal language feature	6655	SOS2	ORPHA:648
HP:4000072	Abnormal language feature	5781	PTPN11	ORPHA:648
HP:4000072	Abnormal language feature	5922	RASA2	ORPHA:648
HP:4000072	Abnormal language feature	2055	CLN8	ORPHA:1947
HP:4000072	Abnormal language feature	3593	IL12B	ORPHA:3287
HP:4000072	Abnormal language feature	3106	HLA-B	ORPHA:3287
HP:4000072	Abnormal language feature	6945	MLX	ORPHA:3287
HP:4000072	Abnormal language feature	84876	ORAI1	ORPHA:3204
HP:4000072	Abnormal language feature	6786	STIM1	ORPHA:3204
HP:4000072	Abnormal language feature	9897	WASHC5	ORPHA:7
HP:4000072	Abnormal language feature	28952	CCDC22	ORPHA:7
HP:4000072	Abnormal language feature	57020	VPS35L	ORPHA:7
HP:4000072	Abnormal language feature	56896	DPYSL5	ORPHA:7
HP:4000072	Abnormal language feature	51733	UPB1	OMIM:613161
HP:4000072	Abnormal language feature	10801	SEPTIN9	ORPHA:2901
HP:4000072	Abnormal language feature	92609	TIMM50	ORPHA:505216
HP:4000072	Abnormal language feature	219285	SAMD9L	ORPHA:2585
HP:4000072	Abnormal language feature	80816	ASXL3	ORPHA:352577
HP:4000072	Abnormal language feature	7187	TRAF3	ORPHA:1930
HP:4000072	Abnormal language feature	81622	UNC93B1	ORPHA:1930
HP:4000072	Abnormal language feature	148022	TICAM1	ORPHA:1930
HP:4000072	Abnormal language feature	7098	TLR3	ORPHA:1930
HP:4000072	Abnormal language feature	29110	TBK1	ORPHA:1930
HP:4000072	Abnormal language feature	10166	SLC25A15	OMIM:238970
HP:4000072	Abnormal language feature	3064	HTT	ORPHA:399
HP:4000072	Abnormal language feature	6515	SLC2A3	ORPHA:399
HP:4000072	Abnormal language feature	6925	TCF4	ORPHA:2896
HP:4000072	Abnormal language feature	9690	UBE3C	OMIM:620270
HP:4000072	Abnormal language feature	22854	NTNG1	ORPHA:3095
HP:4000072	Abnormal language feature	10479	SLC9A6	OMIM:300243
HP:4000072	Abnormal language feature	10479	SLC9A6	ORPHA:85278
HP:4000072	Abnormal language feature	150468	CKAP2L	ORPHA:3255
HP:4000072	Abnormal language feature	3181	HNRNPA2B1	ORPHA:52430
HP:4000072	Abnormal language feature	5339	PLEC	ORPHA:257
HP:4000072	Abnormal language feature	427	ASAH1	ORPHA:333
HP:4000072	Abnormal language feature	9719	ADAMTSL2	ORPHA:1901
HP:4000072	Abnormal language feature	9509	ADAMTS2	ORPHA:1901
HP:4000072	Abnormal language feature	71	ACTG1	ORPHA:2995
HP:4000072	Abnormal language feature	5286	PIK3C2A	ORPHA:557003
HP:4000072	Abnormal language feature	54539	NDUFB11	ORPHA:2556
HP:4000072	Abnormal language feature	1349	COX7B	ORPHA:2556
HP:4000072	Abnormal language feature	3052	HCCS	ORPHA:2556
HP:4000072	Abnormal language feature	2902	GRIN1	ORPHA:208447
HP:4000072	Abnormal language feature	1278	COL1A2	ORPHA:1899
HP:4000072	Abnormal language feature	1277	COL1A1	ORPHA:1899
HP:4000072	Abnormal language feature	5538	PPT1	OMIM:256730
HP:4000072	Abnormal language feature	1757	SARDH	ORPHA:3129
HP:4000072	Abnormal language feature	138050	HGSNAT	OMIM:252930
HP:4000072	Abnormal language feature	11160	ERLIN2	ORPHA:247604
HP:4000072	Abnormal language feature	2760	GM2A	ORPHA:309246
HP:4000072	Abnormal language feature	2760	GM2A	OMIM:272750
HP:4000072	Abnormal language feature	10535	RNASEH2A	ORPHA:51
HP:4000072	Abnormal language feature	84153	RNASEH2C	ORPHA:51
HP:4000072	Abnormal language feature	25939	SAMHD1	ORPHA:51
HP:4000072	Abnormal language feature	79621	RNASEH2B	ORPHA:51
HP:4000072	Abnormal language feature	134353	LSM11	ORPHA:51
HP:4000072	Abnormal language feature	64135	IFIH1	ORPHA:51
HP:4000072	Abnormal language feature	4558	MT-TF	ORPHA:550
HP:4000072	Abnormal language feature	4572	MT-TQ	ORPHA:550
HP:4000072	Abnormal language feature	4513	MT-CO2	ORPHA:550
HP:4000072	Abnormal language feature	4578	MT-TW	ORPHA:550
HP:4000072	Abnormal language feature	4540	MT-ND5	ORPHA:550
HP:4000072	Abnormal language feature	4541	MT-ND6	ORPHA:550
HP:4000072	Abnormal language feature	4535	MT-ND1	ORPHA:550
HP:4000072	Abnormal language feature	4538	MT-ND4	ORPHA:550
HP:4000072	Abnormal language feature	4567	MT-TL1	ORPHA:550
HP:4000072	Abnormal language feature	4574	MT-TS1	ORPHA:550
HP:4000072	Abnormal language feature	4575	MT-TS2	ORPHA:550
HP:4000072	Abnormal language feature	4564	MT-TH	ORPHA:550
HP:4000072	Abnormal language feature	10059	DNM1L	ORPHA:330050
HP:4000072	Abnormal language feature	4952	OCRL	ORPHA:534
HP:4000072	Abnormal language feature	79944	L2HGDH	OMIM:236792
HP:4000072	Abnormal language feature	79944	L2HGDH	ORPHA:79314
HP:4000072	Abnormal language feature	1540	CYLD	OMIM:619132
HP:4000072	Abnormal language feature	7072	TIA1	OMIM:619133
HP:4000072	Abnormal language feature	201163	FLCN	OMIM:610883
HP:4000072	Abnormal language feature	5664	PSEN2	ORPHA:1020
HP:4000072	Abnormal language feature	10452	TOMM40	ORPHA:1020
HP:4000072	Abnormal language feature	351	APP	ORPHA:1020
HP:4000072	Abnormal language feature	10347	ABCA7	ORPHA:1020
HP:4000072	Abnormal language feature	6653	SORL1	ORPHA:1020
HP:4000072	Abnormal language feature	23732	FRRS1L	ORPHA:725
HP:4000072	Abnormal language feature	546	ATRX	ORPHA:847
HP:4000072	Abnormal language feature	1312	COMT	ORPHA:567
HP:4000072	Abnormal language feature	221037	JMJD1C	ORPHA:567
HP:4000072	Abnormal language feature	2812	GP1BB	ORPHA:567
HP:4000072	Abnormal language feature	6239	RREB1	ORPHA:567
HP:4000072	Abnormal language feature	7290	HIRA	ORPHA:567
HP:4000072	Abnormal language feature	9632	SEC24C	ORPHA:567
HP:4000072	Abnormal language feature	7353	UFD1	ORPHA:567
HP:4000072	Abnormal language feature	421	ARVCF	ORPHA:567
HP:4000072	Abnormal language feature	3119	HLA-DQB1	OMIM:123400
HP:4000072	Abnormal language feature	5649	RELN	ORPHA:101046
HP:4000072	Abnormal language feature	9211	LGI1	ORPHA:101046
HP:4000072	Abnormal language feature	9681	DEPDC5	ORPHA:101046
HP:4000072	Abnormal language feature	355	FAS	ORPHA:3437
HP:4000072	Abnormal language feature	10878	CFHR3	OMIM:235400
HP:4000072	Abnormal language feature	3075	CFH	OMIM:235400
HP:4000072	Abnormal language feature	3078	CFHR1	OMIM:235400
HP:4000072	Abnormal language feature	5420	PODXL	ORPHA:391411
HP:4000072	Abnormal language feature	7317	UBA1	ORPHA:1145
HP:4000072	Abnormal language feature	79903	NAA60	OMIM:620786
HP:4000072	Abnormal language feature	8131	NPRL3	ORPHA:98820
HP:4000072	Abnormal language feature	10641	NPRL2	ORPHA:98820
HP:4000072	Abnormal language feature	5190	PEX6	ORPHA:95433
HP:4000072	Abnormal language feature	11253	MAN1B1	ORPHA:397941
HP:4000072	Abnormal language feature	57459	GATAD2B	OMIM:615074
HP:4000072	Abnormal language feature	57459	GATAD2B	ORPHA:363686
HP:4000072	Abnormal language feature	22856	CHSY1	ORPHA:363417
HP:4000072	Abnormal language feature	51126	NAA20	OMIM:619717
HP:4000072	Abnormal language feature	4719	NDUFS1	OMIM:618226
HP:4000072	Abnormal language feature	25821	MTO1	OMIM:614702
HP:4000072	Abnormal language feature	79796	ALG9	OMIM:608776
HP:4000072	Abnormal language feature	5279	PIGC	OMIM:617816
HP:4000072	Abnormal language feature	3190	HNRNPK	ORPHA:453504
HP:4000072	Abnormal language feature	3190	HNRNPK	OMIM:616580
HP:4000072	Abnormal language feature	3190	HNRNPK	ORPHA:352665
HP:4000072	Abnormal language feature	7707	ZNF148	OMIM:617260
HP:4000072	Abnormal language feature	790	CAD	OMIM:616457
HP:4000072	Abnormal language feature	10730	YME1L1	OMIM:617302
HP:4000072	Abnormal language feature	84197	POMK	OMIM:615249
HP:4000072	Abnormal language feature	55768	NGLY1	ORPHA:404454
HP:4000072	Abnormal language feature	526	ATP6V1B2	ORPHA:79499
HP:4000072	Abnormal language feature	79158	GNPTAB	ORPHA:576
HP:4000072	Abnormal language feature	56992	KIF15	ORPHA:261323
HP:4000072	Abnormal language feature	51116	MRPS2	OMIM:617950
HP:4000072	Abnormal language feature	55572	FOXRED1	OMIM:618241
HP:4000072	Abnormal language feature	5119	CHMP1A	OMIM:614961
HP:4000072	Abnormal language feature	7994	KAT6A	ORPHA:457193
HP:4000072	Abnormal language feature	81857	MED25	ORPHA:464738
HP:4000072	Abnormal language feature	51079	NDUFA13	OMIM:618249
HP:4000072	Abnormal language feature	29920	PYCR2	ORPHA:481152
HP:4000072	Abnormal language feature	2626	GATA4	ORPHA:251071
HP:4000072	Abnormal language feature	1193	CLIC2	ORPHA:324410
HP:4000072	Abnormal language feature	5283	PIGH	OMIM:618010
HP:4000072	Abnormal language feature	1729	DIAPH1	OMIM:616632
HP:4000072	Abnormal language feature	84342	COG8	ORPHA:95428
HP:4000072	Abnormal language feature	28514	DLL1	ORPHA:93926
HP:4000072	Abnormal language feature	28514	DLL1	ORPHA:93924
HP:4000072	Abnormal language feature	28514	DLL1	ORPHA:93925
HP:4000072	Abnormal language feature	28514	DLL1	ORPHA:220386
HP:4000072	Abnormal language feature	6496	SIX3	ORPHA:93926
HP:4000072	Abnormal language feature	6496	SIX3	ORPHA:93924
HP:4000072	Abnormal language feature	6496	SIX3	ORPHA:93925
HP:4000072	Abnormal language feature	6496	SIX3	ORPHA:220386
HP:4000072	Abnormal language feature	7050	TGIF1	ORPHA:93926
HP:4000072	Abnormal language feature	7050	TGIF1	ORPHA:93924
HP:4000072	Abnormal language feature	7050	TGIF1	ORPHA:93925
HP:4000072	Abnormal language feature	7050	TGIF1	ORPHA:220386
HP:4000072	Abnormal language feature	4838	NODAL	ORPHA:93926
HP:4000072	Abnormal language feature	4838	NODAL	ORPHA:93924
HP:4000072	Abnormal language feature	4838	NODAL	ORPHA:93925
HP:4000072	Abnormal language feature	4838	NODAL	ORPHA:220386
HP:4000072	Abnormal language feature	6469	SHH	ORPHA:93926
HP:4000072	Abnormal language feature	6469	SHH	ORPHA:93924
HP:4000072	Abnormal language feature	6469	SHH	ORPHA:93925
HP:4000072	Abnormal language feature	6469	SHH	ORPHA:220386
HP:4000072	Abnormal language feature	7546	ZIC2	ORPHA:93926
HP:4000072	Abnormal language feature	7546	ZIC2	ORPHA:93924
HP:4000072	Abnormal language feature	7546	ZIC2	ORPHA:93925
HP:4000072	Abnormal language feature	7546	ZIC2	ORPHA:220386
HP:4000072	Abnormal language feature	6491	STIL	ORPHA:93926
HP:4000072	Abnormal language feature	6491	STIL	ORPHA:93924
HP:4000072	Abnormal language feature	6491	STIL	ORPHA:93925
HP:4000072	Abnormal language feature	6491	STIL	ORPHA:220386
HP:4000072	Abnormal language feature	2619	GAS1	ORPHA:93926
HP:4000072	Abnormal language feature	2619	GAS1	ORPHA:93924
HP:4000072	Abnormal language feature	2619	GAS1	ORPHA:93925
HP:4000072	Abnormal language feature	2619	GAS1	ORPHA:220386
HP:4000072	Abnormal language feature	84976	DISP1	ORPHA:93926
HP:4000072	Abnormal language feature	84976	DISP1	ORPHA:93924
HP:4000072	Abnormal language feature	84976	DISP1	ORPHA:93925
HP:4000072	Abnormal language feature	84976	DISP1	ORPHA:220386
HP:4000072	Abnormal language feature	2736	GLI2	ORPHA:93926
HP:4000072	Abnormal language feature	2736	GLI2	ORPHA:93924
HP:4000072	Abnormal language feature	2736	GLI2	ORPHA:93925
HP:4000072	Abnormal language feature	2736	GLI2	ORPHA:220386
HP:4000072	Abnormal language feature	8928	FOXH1	ORPHA:93926
HP:4000072	Abnormal language feature	8928	FOXH1	ORPHA:93924
HP:4000072	Abnormal language feature	8928	FOXH1	ORPHA:93925
HP:4000072	Abnormal language feature	8928	FOXH1	ORPHA:220386
HP:4000072	Abnormal language feature	6997	CRIPTO	ORPHA:93926
HP:4000072	Abnormal language feature	6997	CRIPTO	ORPHA:93924
HP:4000072	Abnormal language feature	6997	CRIPTO	ORPHA:93925
HP:4000072	Abnormal language feature	6997	CRIPTO	ORPHA:220386
HP:4000072	Abnormal language feature	5727	PTCH1	ORPHA:93926
HP:4000072	Abnormal language feature	5727	PTCH1	ORPHA:93924
HP:4000072	Abnormal language feature	5727	PTCH1	ORPHA:93925
HP:4000072	Abnormal language feature	5727	PTCH1	ORPHA:220386
HP:4000072	Abnormal language feature	50937	CDON	ORPHA:93926
HP:4000072	Abnormal language feature	50937	CDON	ORPHA:93924
HP:4000072	Abnormal language feature	50937	CDON	ORPHA:93925
HP:4000072	Abnormal language feature	50937	CDON	ORPHA:220386
HP:4000072	Abnormal language feature	84300	UQCC2	OMIM:615824
HP:4000072	Abnormal language feature	23007	PLCH1	ORPHA:93925
HP:4000072	Abnormal language feature	1499	CTNNB1	ORPHA:404473
HP:4000072	Abnormal language feature	388662	SLC6A17	ORPHA:457212
HP:4000072	Abnormal language feature	163786	SASS6	OMIM:616402
HP:4000072	Abnormal language feature	998	CDC42	ORPHA:487796
HP:4000072	Abnormal language feature	9894	TELO2	ORPHA:488642
HP:4000072	Abnormal language feature	85440	DOCK7	ORPHA:411986
HP:4000072	Abnormal language feature	6857	SYT1	ORPHA:522077
HP:4000072	Abnormal language feature	57570	TRMT5	OMIM:616539
HP:4000072	Abnormal language feature	54112	GPR88	OMIM:616939
HP:4000072	Abnormal language feature	93587	TRMT10A	ORPHA:391408
HP:4000072	Abnormal language feature	55691	FRMD4A	ORPHA:466688
HP:4000072	Abnormal language feature	9179	AP4M1	ORPHA:280763
HP:4000072	Abnormal language feature	11154	AP4S1	ORPHA:280763
HP:4000072	Abnormal language feature	23431	AP4E1	ORPHA:280763
HP:4000072	Abnormal language feature	4081	MAB21L1	ORPHA:495875
HP:4000072	Abnormal language feature	476	ATP1A1	ORPHA:564178
HP:4000072	Abnormal language feature	2990	GUSB	OMIM:253220
HP:4000072	Abnormal language feature	9928	KIF14	OMIM:617914
HP:4000072	Abnormal language feature	5879	RAC1	ORPHA:500159
HP:4000072	Abnormal language feature	162417	NAGS	ORPHA:927
HP:4000072	Abnormal language feature	3458	IFNG	ORPHA:805
HP:4000072	Abnormal language feature	7248	TSC1	ORPHA:805
HP:4000072	Abnormal language feature	7249	TSC2	ORPHA:805
HP:4000072	Abnormal language feature	11043	MID2	OMIM:300928
HP:4000072	Abnormal language feature	64116	SLC39A8	ORPHA:468699
HP:4000072	Abnormal language feature	4281	MID1	ORPHA:2745
HP:4000072	Abnormal language feature	5518	PPP2R1A	ORPHA:457284
HP:4000072	Abnormal language feature	57194	ATP10A	ORPHA:411515
HP:4000072	Abnormal language feature	23516	SLC39A14	ORPHA:521406
HP:4000072	Abnormal language feature	8565	YARS1	OMIM:619418
HP:4000072	Abnormal language feature	6389	SDHA	ORPHA:3208
HP:4000072	Abnormal language feature	6392	SDHD	ORPHA:3208
HP:4000072	Abnormal language feature	644096	SDHAF1	ORPHA:3208
HP:4000072	Abnormal language feature	6329	SCN4A	OMIM:620369
HP:4000072	Abnormal language feature	6329	SCN4A	OMIM:620351
HP:4000072	Abnormal language feature	10020	GNE	ORPHA:3166
HP:4000072	Abnormal language feature	7138	TNNT1	OMIM:620389
HP:4000072	Abnormal language feature	22827	PUF60	ORPHA:508488
HP:4000072	Abnormal language feature	6472	SHMT2	OMIM:619121
HP:4000072	Abnormal language feature	5910	RAP1GDS1	OMIM:620655
HP:4000072	Abnormal language feature	55186	SLC25A36	OMIM:620211
HP:4000072	Abnormal language feature	171023	ASXL1	ORPHA:97297
HP:4000072	Abnormal language feature	22872	SEC31A	OMIM:618651
HP:4000072	Abnormal language feature	3145	HMBS	ORPHA:79276
HP:4000072	Abnormal language feature	10755	GIPC1	ORPHA:98897
HP:4000072	Abnormal language feature	7227	TRPS1	OMIM:190350
HP:4000072	Abnormal language feature	1073	CFL2	OMIM:610687
HP:4000072	Abnormal language feature	23512	SUZ12	ORPHA:3447
HP:4000072	Abnormal language feature	55553	SOX6	OMIM:618971
HP:4000072	Abnormal language feature	7314	UBB	ORPHA:99772
HP:4000072	Abnormal language feature	57822	GRHL3	ORPHA:99772
HP:4000072	Abnormal language feature	7840	ALMS1	ORPHA:64
HP:4000072	Abnormal language feature	6999	TDO2	OMIM:600627
HP:4000072	Abnormal language feature	57410	SCYL1	OMIM:616719
HP:4000072	Abnormal language feature	57410	SCYL1	ORPHA:466794
HP:4000072	Abnormal language feature	4536	MT-ND2	ORPHA:255210
HP:4000072	Abnormal language feature	4537	MT-ND3	ORPHA:255210
HP:4000072	Abnormal language feature	4577	MT-TV	ORPHA:255210
HP:4000072	Abnormal language feature	4566	MT-TK	ORPHA:255210
HP:4000072	Abnormal language feature	23317	DNAJC13	ORPHA:411602
HP:4000072	Abnormal language feature	1981	EIF4G1	ORPHA:411602
HP:4000072	Abnormal language feature	55737	VPS35	ORPHA:411602
HP:4000072	Abnormal language feature	120892	LRRK2	ORPHA:411602
HP:4000072	Abnormal language feature	26058	GIGYF2	ORPHA:411602
HP:4000072	Abnormal language feature	57680	CHD8	OMIM:615032
HP:4000072	Abnormal language feature	8312	AXIN1	OMIM:620558
HP:4000073	Pronoun reversal	57680	CHD8	OMIM:615032
HP:4000074	Involuntary vocalization	5339	PLEC	ORPHA:257
HP:4000074	Involuntary vocalization	1540	CYLD	OMIM:619132
HP:4000074	Involuntary vocalization	57680	CHD8	OMIM:615032
HP:4000074	Involuntary vocalization	5663	PSEN1	OMIM:172700
HP:4000074	Involuntary vocalization	5663	PSEN1	ORPHA:275864
HP:4000074	Involuntary vocalization	4137	MAPT	OMIM:172700
HP:4000074	Involuntary vocalization	4137	MAPT	ORPHA:275864
HP:4000074	Involuntary vocalization	6711	SPTBN1	OMIM:619475
HP:4000074	Involuntary vocalization	23394	ADNP	OMIM:615873
HP:4000074	Involuntary vocalization	162417	NAGS	ORPHA:927
HP:4000074	Involuntary vocalization	10165	SLC25A13	ORPHA:247585
HP:4000074	Involuntary vocalization	8924	HERC2	OMIM:615516
HP:4000074	Involuntary vocalization	201163	FLCN	OMIM:610883
HP:4000074	Involuntary vocalization	2260	FGFR1	ORPHA:2396
HP:4000074	Involuntary vocalization	3845	KRAS	ORPHA:2396
HP:4000074	Involuntary vocalization	5927	KDM5A	OMIM:620820
HP:4000074	Involuntary vocalization	3067	HDC	OMIM:137580
HP:4000074	Involuntary vocalization	114798	SLITRK1	OMIM:137580
HP:4000074	Involuntary vocalization	79813	EHMT1	ORPHA:96147
HP:4000074	Involuntary vocalization	9719	ADAMTSL2	ORPHA:1901
HP:4000074	Involuntary vocalization	9509	ADAMTS2	ORPHA:1901
HP:4000074	Involuntary vocalization	118987	PDZD8	OMIM:620021
HP:4000074	Involuntary vocalization	10159	ATP6AP2	ORPHA:93952
HP:4000074	Involuntary vocalization	6925	TCF4	ORPHA:2896
HP:4000074	Involuntary vocalization	71	ACTG1	ORPHA:2995
HP:4000074	Involuntary vocalization	60	ACTB	ORPHA:2995
HP:4000074	Involuntary vocalization	54539	NDUFB11	ORPHA:2556
HP:4000074	Involuntary vocalization	1349	COX7B	ORPHA:2556
HP:4000074	Involuntary vocalization	3052	HCCS	ORPHA:2556
HP:4000074	Involuntary vocalization	55343	SLC35C1	OMIM:266265
HP:4000074	Involuntary vocalization	22827	PUF60	ORPHA:508488
HP:4000074	Involuntary vocalization	2898	GRIK2	OMIM:619580
HP:4000074	Involuntary vocalization	6595	SMARCA2	ORPHA:3051
HP:4000074	Involuntary vocalization	7319	UBE2A	OMIM:300860
HP:4000074	Involuntary vocalization	7319	UBE2A	ORPHA:163956
HP:4000074	Involuntary vocalization	6616	SNAP25	OMIM:616330
HP:4000074	Involuntary vocalization	25978	CHMP2B	ORPHA:275864
HP:4000074	Involuntary vocalization	2896	GRN	ORPHA:275864
HP:4000074	Involuntary vocalization	54664	TMEM106B	ORPHA:275864
HP:4000074	Involuntary vocalization	8878	SQSTM1	ORPHA:275864
HP:4000074	Involuntary vocalization	54209	TREM2	ORPHA:275864
HP:4000074	Involuntary vocalization	7415	VCP	ORPHA:275864
HP:4000074	Involuntary vocalization	3708	ITPR1	OMIM:117360
HP:4000074	Involuntary vocalization	139285	AMER1	ORPHA:2780
HP:4000074	Involuntary vocalization	150468	CKAP2L	ORPHA:3255
HP:4000074	Involuntary vocalization	10743	RAI1	ORPHA:1713
HP:4000074	Involuntary vocalization	9898	UBAP2L	OMIM:620494
HP:4000074	Involuntary vocalization	1278	COL1A2	ORPHA:1899
HP:4000074	Involuntary vocalization	1277	COL1A1	ORPHA:1899
HP:4000074	Involuntary vocalization	9213	XPR1	OMIM:616413
HP:4000074	Involuntary vocalization	80025	PANK2	OMIM:234200
HP:4000074	Involuntary vocalization	2782	GNB1	OMIM:616973
HP:4000074	Involuntary vocalization	23230	VPS13A	ORPHA:2388
HP:4000074	Involuntary vocalization	84631	SLITRK2	OMIM:301107
HP:4000076	Use of another person's body to communicate	51111	KMT5B	OMIM:617788
HP:4000079	Sensory seeking	5663	PSEN1	OMIM:600274
HP:4000079	Sensory seeking	5663	PSEN1	ORPHA:275864
HP:4000079	Sensory seeking	5663	PSEN1	OMIM:172700
HP:4000079	Sensory seeking	4137	MAPT	OMIM:600274
HP:4000079	Sensory seeking	4137	MAPT	ORPHA:275864
HP:4000079	Sensory seeking	4137	MAPT	OMIM:172700
HP:4000079	Sensory seeking	25978	CHMP2B	ORPHA:275864
HP:4000079	Sensory seeking	25978	CHMP2B	OMIM:600795
HP:4000079	Sensory seeking	2896	GRN	ORPHA:275864
HP:4000079	Sensory seeking	2896	GRN	OMIM:607485
HP:4000079	Sensory seeking	54664	TMEM106B	ORPHA:275864
HP:4000079	Sensory seeking	8878	SQSTM1	ORPHA:275864
HP:4000079	Sensory seeking	54209	TREM2	ORPHA:275864
HP:4000079	Sensory seeking	7415	VCP	ORPHA:275864
HP:4000079	Sensory seeking	5621	PRNP	OMIM:606688
HP:4000079	Sensory seeking	6638	SNRPN	ORPHA:411515
HP:4000079	Sensory seeking	7337	UBE3A	ORPHA:411515
HP:4000079	Sensory seeking	57194	ATP10A	ORPHA:411515
HP:4000079	Sensory seeking	85358	SHANK3	OMIM:606232
HP:4000079	Sensory seeking	54675	CRLS1	OMIM:620167
HP:4000079	Sensory seeking	1639	DCTN1	OMIM:168605
HP:4000079	Sensory seeking	3000	GUCY2D	OMIM:204000
HP:4000079	Sensory seeking	3000	GUCY2D	ORPHA:65
HP:4000079	Sensory seeking	6121	RPE65	OMIM:204100
HP:4000079	Sensory seeking	6121	RPE65	ORPHA:65
HP:4000079	Sensory seeking	3769	KCNJ13	ORPHA:65
HP:4000079	Sensory seeking	343035	RD3	ORPHA:65
HP:4000079	Sensory seeking	145226	RDH12	ORPHA:65
HP:4000079	Sensory seeking	1406	CRX	ORPHA:65
HP:4000079	Sensory seeking	64802	NMNAT1	ORPHA:65
HP:4000079	Sensory seeking	64802	NMNAT1	OMIM:608553
HP:4000079	Sensory seeking	57096	RPGRIP1	ORPHA:65
HP:4000079	Sensory seeking	57096	RPGRIP1	OMIM:613826
HP:4000079	Sensory seeking	80184	CEP290	ORPHA:65
HP:4000079	Sensory seeking	10383	TUBB4B	ORPHA:65
HP:4000079	Sensory seeking	9742	IFT140	ORPHA:65
HP:4000079	Sensory seeking	85015	USP45	ORPHA:65
HP:4000079	Sensory seeking	23418	CRB1	ORPHA:65
HP:4000079	Sensory seeking	23418	CRB1	OMIM:613835
HP:4000079	Sensory seeking	5130	PCYT1A	ORPHA:65
HP:4000079	Sensory seeking	9657	IQCB1	ORPHA:65
HP:4000079	Sensory seeking	392255	GDF6	ORPHA:65
HP:4000079	Sensory seeking	23746	AIPL1	ORPHA:65
HP:4000079	Sensory seeking	9227	LRAT	ORPHA:65
HP:4000079	Sensory seeking	55812	SPATA7	ORPHA:65
HP:4000079	Sensory seeking	7287	TULP1	ORPHA:65
HP:4000079	Sensory seeking	7287	TULP1	OMIM:613843
HP:4000079	Sensory seeking	167691	LCA5	ORPHA:65
HP:4000079	Sensory seeking	3614	IMPDH1	ORPHA:65
HP:4000079	Sensory seeking	23040	MYT1L	ORPHA:647799
HP:4000079	Sensory seeking	2314	FLII	ORPHA:819
HP:4000079	Sensory seeking	23096	IQSEC2	ORPHA:819
HP:4000079	Sensory seeking	10522	DEAF1	ORPHA:819
HP:4000079	Sensory seeking	6874	TAF4	OMIM:620450
HP:4000079	Sensory seeking	10743	RAI1	OMIM:182290
HP:4000079	Sensory seeking	5575	PRKAR1B	OMIM:619680
HP:4000079	Sensory seeking	26834	RNU4-2	OMIM:620851
HP:4000079	Sensory seeking	64864	RFX7	OMIM:620330
HP:4000081	Reduced production of gestures	57680	CHD8	OMIM:615032
HP:4000090	Abnormal gesture use	57680	CHD8	OMIM:615032
HP:4000093	Ectopic tooth eruption	63916	ELMO2	OMIM:606893
HP:4000094	Corpus cavernosum hypoplasia	2626	GATA4	OMIM:615542
HP:4000095	Elevated circulating thymine concentration	1807	DPYS	OMIM:222748
HP:0002900	Hypokalemia	435	ASL	ORPHA:23
HP:0002900	Hypokalemia	1497	CTNS	OMIM:219800
HP:0002900	Hypokalemia	1497	CTNS	ORPHA:411629
HP:0002900	Hypokalemia	1497	CTNS	ORPHA:411634
HP:0002900	Hypokalemia	7809	BSND	ORPHA:89938
HP:0002900	Hypokalemia	7809	BSND	OMIM:602522
HP:0002900	Hypokalemia	1188	CLCNKB	ORPHA:89938
HP:0002900	Hypokalemia	1188	CLCNKB	OMIM:613090
HP:0002900	Hypokalemia	1188	CLCNKB	OMIM:607364
HP:0002900	Hypokalemia	1188	CLCNKB	ORPHA:358
HP:0002900	Hypokalemia	1187	CLCNKA	ORPHA:89938
HP:0002900	Hypokalemia	1187	CLCNKA	OMIM:613090
HP:0002900	Hypokalemia	6338	SCNN1B	OMIM:177200
HP:0002900	Hypokalemia	6338	SCNN1B	ORPHA:526
HP:0002900	Hypokalemia	5311	PKD2	OMIM:613095
HP:0002900	Hypokalemia	776	CACNA1D	OMIM:615474
HP:0002900	Hypokalemia	776	CACNA1D	ORPHA:369929
HP:0002900	Hypokalemia	6521	SLC4A1	OMIM:611590
HP:0002900	Hypokalemia	6521	SLC4A1	OMIM:179800
HP:0002900	Hypokalemia	779	CACNA1S	OMIM:170400
HP:0002900	Hypokalemia	779	CACNA1S	OMIM:188580
HP:0002900	Hypokalemia	6329	SCN4A	OMIM:170400
HP:0002900	Hypokalemia	6329	SCN4A	OMIM:613345
HP:0002900	Hypokalemia	6329	SCN4A	ORPHA:682
HP:0002900	Hypokalemia	3643	INSR	ORPHA:508
HP:0002900	Hypokalemia	3643	INSR	ORPHA:769
HP:0002900	Hypokalemia	8021	NUP214	OMIM:618426
HP:0002900	Hypokalemia	3291	HSD11B2	OMIM:218030
HP:0002900	Hypokalemia	3291	HSD11B2	ORPHA:320
HP:0002900	Hypokalemia	2908	NR3C1	ORPHA:786
HP:0002900	Hypokalemia	3766	KCNJ10	ORPHA:199343
HP:0002900	Hypokalemia	3766	KCNJ10	OMIM:612780
HP:0002900	Hypokalemia	6514	SLC2A2	OMIM:227810
HP:0002900	Hypokalemia	6340	SCNN1G	OMIM:618114
HP:0002900	Hypokalemia	6340	SCNN1G	ORPHA:526
HP:0002900	Hypokalemia	2628	GATM	OMIM:134600
HP:0002900	Hypokalemia	2628	GATM	ORPHA:3337
HP:0002900	Hypokalemia	1584	CYP11B1	OMIM:202010
HP:0002900	Hypokalemia	1584	CYP11B1	ORPHA:90795
HP:0002900	Hypokalemia	1584	CYP11B1	ORPHA:403
HP:0002900	Hypokalemia	476	ATP1A1	OMIM:618314
HP:0002900	Hypokalemia	1811	SLC26A3	OMIM:214700
HP:0002900	Hypokalemia	866	SERPINA6	OMIM:611489
HP:0002900	Hypokalemia	4952	OCRL	ORPHA:534
HP:0002900	Hypokalemia	1586	CYP17A1	ORPHA:90793
HP:0002900	Hypokalemia	1962	EHHADH	ORPHA:3337
HP:0002900	Hypokalemia	137682	NDUFAF6	ORPHA:3337
HP:0002900	Hypokalemia	6569	SLC34A1	ORPHA:3337
HP:0002900	Hypokalemia	58528	RRAGD	OMIM:620152
HP:0002900	Hypokalemia	801	CALM1	ORPHA:101016
HP:0002900	Hypokalemia	3753	KCNE1	ORPHA:101016
HP:0002900	Hypokalemia	3762	KCNJ5	ORPHA:101016
HP:0002900	Hypokalemia	3762	KCNJ5	OMIM:613677
HP:0002900	Hypokalemia	3762	KCNJ5	ORPHA:251274
HP:0002900	Hypokalemia	805	CALM2	ORPHA:101016
HP:0002900	Hypokalemia	6910	TBX5	ORPHA:101016
HP:0002900	Hypokalemia	6336	SCN10A	ORPHA:101016
HP:0002900	Hypokalemia	3757	KCNH2	ORPHA:101016
HP:0002900	Hypokalemia	9992	KCNE2	ORPHA:101016
HP:0002900	Hypokalemia	10142	AKAP9	ORPHA:101016
HP:0002900	Hypokalemia	9722	NOS1AP	ORPHA:101016
HP:0002900	Hypokalemia	775	CACNA1C	ORPHA:101016
HP:0002900	Hypokalemia	3784	KCNQ1	ORPHA:101016
HP:0002900	Hypokalemia	10345	TRDN	ORPHA:101016
HP:0002900	Hypokalemia	6331	SCN5A	ORPHA:101016
HP:0002900	Hypokalemia	6330	SCN4B	ORPHA:101016
HP:0002900	Hypokalemia	808	CALM3	ORPHA:101016
HP:0002900	Hypokalemia	6640	SNTA1	ORPHA:101016
HP:0002900	Hypokalemia	859	CAV3	ORPHA:101016
HP:0002900	Hypokalemia	287	ANK2	ORPHA:101016
HP:0002900	Hypokalemia	10916	MAGED2	OMIM:300971
HP:0002900	Hypokalemia	8671	SLC4A4	OMIM:604278
HP:0002900	Hypokalemia	486	FXYD2	OMIM:154020
HP:0002900	Hypokalemia	9071	CLDN10	OMIM:617671
HP:0002900	Hypokalemia	55898	UNC45A	OMIM:619377
HP:0002900	Hypokalemia	6337	SCNN1A	OMIM:618126
HP:0002900	Hypokalemia	6337	SCNN1A	ORPHA:526
HP:0002900	Hypokalemia	657	BMPR1A	OMIM:174900
HP:0002900	Hypokalemia	4089	SMAD4	OMIM:174900
HP:0002900	Hypokalemia	50619	DEF6	OMIM:619573
HP:0002900	Hypokalemia	50628	GEMIN4	OMIM:617913
HP:0002900	Hypokalemia	100134444	KCNJ18	OMIM:613239
HP:0002900	Hypokalemia	3759	KCNJ2	OMIM:170390
HP:0002900	Hypokalemia	1181	CLCN2	ORPHA:404
HP:0002900	Hypokalemia	1181	CLCN2	OMIM:605635
HP:0002900	Hypokalemia	84133	ZNRF3	ORPHA:1501
HP:0002900	Hypokalemia	7157	TP53	ORPHA:1501
HP:0002900	Hypokalemia	5573	PRKAR1A	ORPHA:1501
HP:0002900	Hypokalemia	1499	CTNNB1	ORPHA:1501
HP:0002900	Hypokalemia	1029	CDKN2A	ORPHA:1501
HP:0002900	Hypokalemia	7015	TERT	ORPHA:1501
HP:0002900	Hypokalemia	1585	CYP11B2	ORPHA:403
HP:0002900	Hypokalemia	846	CASR	OMIM:601198
HP:0002900	Hypokalemia	50617	ATP6V0A4	OMIM:602722
HP:0002900	Hypokalemia	6557	SLC12A1	OMIM:601678
HP:0002900	Hypokalemia	1281	COL3A1	ORPHA:286
HP:0002900	Hypokalemia	3758	KCNJ1	OMIM:241200
HP:0002900	Hypokalemia	64072	CDH23	ORPHA:91347
HP:0002900	Hypokalemia	6559	SLC12A3	OMIM:263800
HP:0002900	Hypokalemia	6559	SLC12A3	ORPHA:358
HP:0002900	Hypokalemia	9049	AIP	OMIM:219090
HP:0002900	Hypokalemia	9101	USP8	OMIM:219090
HP:0002900	Hypokalemia	10008	KCNE3	ORPHA:681
HP:0002900	Hypokalemia	2556	GABRA3	ORPHA:79102
HP:0002901	Hypocalcemia	8792	TNFRSF11A	OMIM:612301
HP:0002901	Hypocalcemia	83483	PLVAP	OMIM:618183
HP:0002901	Hypocalcemia	7421	VDR	ORPHA:93160
HP:0002901	Hypocalcemia	10312	TCIRG1	OMIM:259700
HP:0002901	Hypocalcemia	10312	TCIRG1	ORPHA:667
HP:0002901	Hypocalcemia	10312	TCIRG1	ORPHA:210110
HP:0002901	Hypocalcemia	857	CAV1	OMIM:612526
HP:0002901	Hypocalcemia	2767	GNA11	ORPHA:428
HP:0002901	Hypocalcemia	2767	GNA11	OMIM:615361
HP:0002901	Hypocalcemia	846	CASR	ORPHA:428
HP:0002901	Hypocalcemia	846	CASR	OMIM:601198
HP:0002901	Hypocalcemia	6261	RYR1	ORPHA:466650
HP:0002901	Hypocalcemia	2778	GNAS	ORPHA:94089
HP:0002901	Hypocalcemia	2778	GNAS	OMIM:603233
HP:0002901	Hypocalcemia	2778	GNAS	OMIM:612462
HP:0002901	Hypocalcemia	2778	GNAS	ORPHA:79443
HP:0002901	Hypocalcemia	2778	GNAS	ORPHA:79444
HP:0002901	Hypocalcemia	2778	GNAS	ORPHA:79445
HP:0002901	Hypocalcemia	8675	STX16	ORPHA:94089
HP:0002901	Hypocalcemia	8675	STX16	OMIM:603233
HP:0002901	Hypocalcemia	1186	CLCN7	ORPHA:667
HP:0002901	Hypocalcemia	1186	CLCN7	ORPHA:210110
HP:0002901	Hypocalcemia	1186	CLCN7	ORPHA:53
HP:0002901	Hypocalcemia	29887	SNX10	ORPHA:667
HP:0002901	Hypocalcemia	8600	TNFSF11	ORPHA:667
HP:0002901	Hypocalcemia	149775	GNAS-AS1	OMIM:603233
HP:0002901	Hypocalcemia	197131	UBR1	OMIM:243800
HP:0002901	Hypocalcemia	3712	IVD	ORPHA:33
HP:0002901	Hypocalcemia	1436	CSF1R	OMIM:618476
HP:0002901	Hypocalcemia	84876	ORAI1	OMIM:615883
HP:0002901	Hypocalcemia	6905	TBCE	ORPHA:2323
HP:0002901	Hypocalcemia	6905	TBCE	OMIM:241410
HP:0002901	Hypocalcemia	6905	TBCE	OMIM:244460
HP:0002901	Hypocalcemia	6905	TBCE	ORPHA:93324
HP:0002901	Hypocalcemia	10686	CLDN16	OMIM:248250
HP:0002901	Hypocalcemia	120227	CYP2R1	OMIM:600081
HP:0002901	Hypocalcemia	120227	CYP2R1	ORPHA:289157
HP:0002901	Hypocalcemia	58528	RRAGD	OMIM:620152
HP:0002901	Hypocalcemia	140803	TRPM6	OMIM:602014
HP:0002901	Hypocalcemia	6023	RMRP	ORPHA:175
HP:0002901	Hypocalcemia	9247	GCM2	OMIM:618883
HP:0002901	Hypocalcemia	9247	GCM2	ORPHA:2239
HP:0002901	Hypocalcemia	6521	SLC4A1	OMIM:179800
HP:0002901	Hypocalcemia	3117	HLA-DQA1	OMIM:212750
HP:0002901	Hypocalcemia	3119	HLA-DQB1	OMIM:212750
HP:0002901	Hypocalcemia	1312	COMT	ORPHA:567
HP:0002901	Hypocalcemia	221037	JMJD1C	ORPHA:567
HP:0002901	Hypocalcemia	2812	GP1BB	ORPHA:567
HP:0002901	Hypocalcemia	6239	RREB1	ORPHA:567
HP:0002901	Hypocalcemia	6899	TBX1	ORPHA:567
HP:0002901	Hypocalcemia	6899	TBX1	OMIM:188400
HP:0002901	Hypocalcemia	6899	TBX1	OMIM:192430
HP:0002901	Hypocalcemia	7290	HIRA	ORPHA:567
HP:0002901	Hypocalcemia	9632	SEC24C	ORPHA:567
HP:0002901	Hypocalcemia	7353	UFD1	ORPHA:567
HP:0002901	Hypocalcemia	421	ARVCF	ORPHA:567
HP:0002901	Hypocalcemia	55764	IFT122	OMIM:218330
HP:0002901	Hypocalcemia	79087	ALG12	OMIM:607143
HP:0002901	Hypocalcemia	1594	CYP27B1	OMIM:264700
HP:0002901	Hypocalcemia	1594	CYP27B1	ORPHA:289157
HP:0002901	Hypocalcemia	55636	CHD7	OMIM:214800
HP:0002901	Hypocalcemia	2783	GNB2	OMIM:619503
HP:0002901	Hypocalcemia	760	CA2	ORPHA:2785
HP:0002901	Hypocalcemia	64864	RFX7	OMIM:620330
HP:0002901	Hypocalcemia	63901	FAM111A	OMIM:602361
HP:0002901	Hypocalcemia	63901	FAM111A	OMIM:127000
HP:0002901	Hypocalcemia	1576	CYP3A4	OMIM:619073
HP:0002901	Hypocalcemia	9842	PLEKHM1	ORPHA:210110
HP:0002901	Hypocalcemia	8074	FGF23	ORPHA:89937
HP:0002901	Hypocalcemia	54914	FOCAD	OMIM:619991
HP:0002901	Hypocalcemia	9508	ADAMTS3	ORPHA:2136
HP:0002901	Hypocalcemia	147372	CCBE1	ORPHA:2136
HP:0002901	Hypocalcemia	79633	FAT4	ORPHA:2136
HP:0002901	Hypocalcemia	3032	HADHB	ORPHA:746
HP:0002901	Hypocalcemia	3030	HADHA	ORPHA:746
HP:0002901	Hypocalcemia	10056	FARSB	OMIM:613658
HP:0002901	Hypocalcemia	130340	AP1S3	ORPHA:247353
HP:0002901	Hypocalcemia	26525	IL36RN	ORPHA:247353
HP:0002901	Hypocalcemia	54487	DGCR8	OMIM:192430
HP:0002901	Hypocalcemia	8214	DGCR6	OMIM:192430
HP:0002901	Hypocalcemia	8220	ESS2	OMIM:192430
HP:0002901	Hypocalcemia	9993	DGCR2	OMIM:192430
HP:0002901	Hypocalcemia	84033	OBSCN	ORPHA:99845
HP:0002901	Hypocalcemia	23175	LPIN1	ORPHA:99845
HP:0002901	Hypocalcemia	4512	MT-CO1	ORPHA:99845
HP:0002901	Hypocalcemia	4514	MT-CO3	ORPHA:99845
HP:0002901	Hypocalcemia	5495	PPM1B	ORPHA:163693
HP:0002901	Hypocalcemia	6519	SLC3A1	ORPHA:163693
HP:0002901	Hypocalcemia	9581	PREPL	ORPHA:163693
HP:0002901	Hypocalcemia	79823	CAMKMT	ORPHA:163693
HP:0002901	Hypocalcemia	695	BTK	ORPHA:47
HP:0002901	Hypocalcemia	775	CACNA1C	OMIM:601005
HP:0002901	Hypocalcemia	5286	PIK3C2A	OMIM:618440
HP:0002901	Hypocalcemia	5286	PIK3C2A	ORPHA:557003
HP:0002901	Hypocalcemia	2625	GATA3	ORPHA:2237
HP:0002901	Hypocalcemia	50943	FOXP3	ORPHA:37042
HP:0002901	Hypocalcemia	5741	PTH	OMIM:146200
HP:0002901	Hypocalcemia	50628	GEMIN4	OMIM:617913
HP:0002901	Hypocalcemia	54532	USP53	OMIM:619658
HP:0002901	Hypocalcemia	28962	OSTM1	OMIM:259720
HP:0002901	Hypocalcemia	37	ACADVL	ORPHA:26793
HP:0002901	Hypocalcemia	406932	MIR140	OMIM:618618
HP:0002901	Hypocalcemia	1497	CTNS	ORPHA:411634
HP:0002901	Hypocalcemia	1188	CLCNKB	ORPHA:358
HP:0002901	Hypocalcemia	6559	SLC12A3	ORPHA:358
HP:0002901	Hypocalcemia	326	AIRE	OMIM:240300
HP:0002901	Hypocalcemia	1758	DMP1	ORPHA:289176
HP:0002901	Hypocalcemia	5167	ENPP1	ORPHA:289176
HP:0002901	Hypocalcemia	8456	FOXN1	ORPHA:83471
HP:0002902	Hyponatremia	83483	PLVAP	OMIM:618183
HP:0002902	Hyponatremia	1497	CTNS	OMIM:219800
HP:0002902	Hyponatremia	1497	CTNS	ORPHA:411634
HP:0002902	Hyponatremia	7809	BSND	ORPHA:89938
HP:0002902	Hyponatremia	7809	BSND	OMIM:602522
HP:0002902	Hyponatremia	1188	CLCNKB	ORPHA:89938
HP:0002902	Hyponatremia	1188	CLCNKB	OMIM:613090
HP:0002902	Hyponatremia	1187	CLCNKA	ORPHA:89938
HP:0002902	Hyponatremia	1187	CLCNKA	OMIM:613090
HP:0002902	Hyponatremia	5076	PAX2	ORPHA:97362
HP:0002902	Hyponatremia	5087	PBX1	ORPHA:97362
HP:0002902	Hyponatremia	4791	NFKB2	ORPHA:293978
HP:0002902	Hyponatremia	5447	POR	OMIM:201750
HP:0002902	Hyponatremia	54809	SAMD9	OMIM:617053
HP:0002902	Hyponatremia	54914	FOCAD	OMIM:619991
HP:0002902	Hyponatremia	8518	ELP1	ORPHA:1764
HP:0002902	Hyponatremia	8021	NUP214	OMIM:618426
HP:0002902	Hyponatremia	10102	TSFM	OMIM:610505
HP:0002902	Hyponatremia	5551	PRF1	OMIM:603553
HP:0002902	Hyponatremia	190	NR0B1	OMIM:300200
HP:0002902	Hyponatremia	190	NR0B1	ORPHA:95702
HP:0002902	Hyponatremia	6340	SCNN1G	ORPHA:171876
HP:0002902	Hyponatremia	6340	SCNN1G	OMIM:620126
HP:0002902	Hyponatremia	6337	SCNN1A	ORPHA:171876
HP:0002902	Hyponatremia	6337	SCNN1A	OMIM:264350
HP:0002902	Hyponatremia	6338	SCNN1B	ORPHA:171876
HP:0002902	Hyponatremia	6338	SCNN1B	OMIM:620125
HP:0002902	Hyponatremia	130340	AP1S3	ORPHA:247353
HP:0002902	Hyponatremia	26525	IL36RN	ORPHA:247353
HP:0002902	Hyponatremia	4306	NR3C2	OMIM:177735
HP:0002902	Hyponatremia	1811	SLC26A3	OMIM:214700
HP:0002902	Hyponatremia	29072	SETD2	OMIM:620157
HP:0002902	Hyponatremia	29072	SETD2	OMIM:620155
HP:0002902	Hyponatremia	3662	IRF4	ORPHA:3452
HP:0002902	Hyponatremia	471	ATIC	OMIM:608688
HP:0002902	Hyponatremia	3284	HSD3B2	ORPHA:90791
HP:0002902	Hyponatremia	3284	HSD3B2	OMIM:201810
HP:0002902	Hyponatremia	4952	OCRL	ORPHA:534
HP:0002902	Hyponatremia	199221	DZIP1L	ORPHA:731
HP:0002902	Hyponatremia	5314	PKHD1	ORPHA:731
HP:0002902	Hyponatremia	771	CA12	OMIM:143860
HP:0002902	Hyponatremia	58528	RRAGD	OMIM:620152
HP:0002902	Hyponatremia	10916	MAGED2	OMIM:300971
HP:0002902	Hyponatremia	9095	TBX19	ORPHA:199296
HP:0002902	Hyponatremia	210	ALAD	ORPHA:100924
HP:0002902	Hyponatremia	554	AVPR2	OMIM:300539
HP:0002902	Hyponatremia	1583	CYP11A1	ORPHA:168558
HP:0002902	Hyponatremia	1583	CYP11A1	ORPHA:289548
HP:0002902	Hyponatremia	50628	GEMIN4	OMIM:617913
HP:0002902	Hyponatremia	1585	CYP11B2	OMIM:203400
HP:0002902	Hyponatremia	1585	CYP11B2	OMIM:610600
HP:0002902	Hyponatremia	1585	CYP11B2	ORPHA:556030
HP:0002902	Hyponatremia	51567	TDP2	OMIM:616949
HP:0002902	Hyponatremia	79087	ALG12	ORPHA:79324
HP:0002902	Hyponatremia	9451	EIF2AK3	ORPHA:1667
HP:0002902	Hyponatremia	79053	ALG8	ORPHA:79325
HP:0002902	Hyponatremia	1130	LYST	ORPHA:167
HP:0002902	Hyponatremia	56246	MRAP	ORPHA:361
HP:0002902	Hyponatremia	6770	STAR	ORPHA:361
HP:0002902	Hyponatremia	4158	MC2R	ORPHA:361
HP:0002902	Hyponatremia	23530	NNT	ORPHA:361
HP:0002902	Hyponatremia	23530	NNT	OMIM:614736
HP:0002902	Hyponatremia	10587	TXNRD2	ORPHA:361
HP:0002902	Hyponatremia	6329	SCN4A	ORPHA:682
HP:0002902	Hyponatremia	4714	NDUFB8	OMIM:618252
HP:0002902	Hyponatremia	1371	CPOX	ORPHA:79273
HP:0002902	Hyponatremia	5498	PPOX	ORPHA:79473
HP:0002902	Hyponatremia	54938	SARS2	OMIM:613845
HP:0002902	Hyponatremia	3145	HMBS	ORPHA:79276
HP:0002902	Hyponatremia	7187	TRAF3	ORPHA:1930
HP:0002902	Hyponatremia	81622	UNC93B1	ORPHA:1930
HP:0002902	Hyponatremia	148022	TICAM1	ORPHA:1930
HP:0002902	Hyponatremia	7098	TLR3	ORPHA:1930
HP:0002902	Hyponatremia	29110	TBK1	ORPHA:1930
HP:0003355	Aminoaciduria	444	ASPH	OMIM:601552
HP:0003355	Aminoaciduria	4552	MTRR	OMIM:236270
HP:0003355	Aminoaciduria	4524	MTHFR	OMIM:236250
HP:0003355	Aminoaciduria	4524	MTHFR	ORPHA:395
HP:0003355	Aminoaciduria	3054	HCFC1	OMIM:309541
HP:0003355	Aminoaciduria	875	CBS	OMIM:236200
HP:0003355	Aminoaciduria	5826	ABCD4	OMIM:614857
HP:0003355	Aminoaciduria	4548	MTR	OMIM:250940
HP:0003355	Aminoaciduria	27249	MMADHC	OMIM:277410
HP:0003355	Aminoaciduria	2184	FAH	ORPHA:882
HP:0003355	Aminoaciduria	6514	SLC2A2	OMIM:227810
HP:0003355	Aminoaciduria	6514	SLC2A2	ORPHA:2088
HP:0003355	Aminoaciduria	1594	CYP27B1	OMIM:264700
HP:0003355	Aminoaciduria	1594	CYP27B1	ORPHA:289157
HP:0003355	Aminoaciduria	120227	CYP2R1	ORPHA:289157
HP:0003355	Aminoaciduria	6569	SLC34A1	OMIM:613388
HP:0003355	Aminoaciduria	6569	SLC34A1	ORPHA:3337
HP:0003355	Aminoaciduria	55768	NGLY1	ORPHA:404454
HP:0003355	Aminoaciduria	2110	ETFDH	OMIM:231680
HP:0003355	Aminoaciduria	2108	ETFA	OMIM:231680
HP:0003355	Aminoaciduria	2109	ETFB	OMIM:231680
HP:0003355	Aminoaciduria	1716	DGUOK	OMIM:251880
HP:0003355	Aminoaciduria	4982	TNFRSF11B	OMIM:239000
HP:0003355	Aminoaciduria	8792	TNFRSF11A	OMIM:602080
HP:0003355	Aminoaciduria	8792	TNFRSF11A	OMIM:174810
HP:0003355	Aminoaciduria	153201	SLC36A2	OMIM:242600
HP:0003355	Aminoaciduria	153201	SLC36A2	ORPHA:42062
HP:0003355	Aminoaciduria	5625	PRODH	OMIM:239500
HP:0003355	Aminoaciduria	348932	SLC6A18	ORPHA:42062
HP:0003355	Aminoaciduria	54716	SLC6A20	ORPHA:42062
HP:0003355	Aminoaciduria	340024	SLC6A19	ORPHA:42062
HP:0003355	Aminoaciduria	8659	ALDH4A1	ORPHA:79101
HP:0003355	Aminoaciduria	8659	ALDH4A1	OMIM:239510
HP:0003355	Aminoaciduria	5352	PLOD2	OMIM:609220
HP:0003355	Aminoaciduria	2731	GLDC	OMIM:605899
HP:0003355	Aminoaciduria	34	ACADM	OMIM:201450
HP:0003355	Aminoaciduria	64087	MCCC2	OMIM:210210
HP:0003355	Aminoaciduria	5095	PCCA	OMIM:606054
HP:0003355	Aminoaciduria	5096	PCCB	OMIM:606054
HP:0003355	Aminoaciduria	9581	PREPL	OMIM:616224
HP:0003355	Aminoaciduria	9581	PREPL	ORPHA:163690
HP:0003355	Aminoaciduria	9581	PREPL	ORPHA:163693
HP:0003355	Aminoaciduria	5495	PPM1B	ORPHA:163693
HP:0003355	Aminoaciduria	79823	CAMKMT	ORPHA:163693
HP:0003355	Aminoaciduria	1491	CTH	OMIM:219500
HP:0003355	Aminoaciduria	1491	CTH	ORPHA:212
HP:0003355	Aminoaciduria	55788	LMBRD1	OMIM:277380
HP:0003355	Aminoaciduria	5052	PRDX1	OMIM:277400
HP:0003355	Aminoaciduria	25974	MMACHC	OMIM:277400
HP:0003355	Aminoaciduria	10243	GPHN	OMIM:615501
HP:0003355	Aminoaciduria	4337	MOCS1	OMIM:252150
HP:0003355	Aminoaciduria	4338	MOCS2	OMIM:252160
HP:0003355	Aminoaciduria	3000	GUCY2D	OMIM:204000
HP:0003355	Aminoaciduria	133686	NADK2	OMIM:616034
HP:0003355	Aminoaciduria	435	ASL	ORPHA:23
HP:0003355	Aminoaciduria	435	ASL	OMIM:207900
HP:0003355	Aminoaciduria	1497	CTNS	OMIM:219800
HP:0003355	Aminoaciduria	1497	CTNS	ORPHA:411629
HP:0003355	Aminoaciduria	1497	CTNS	ORPHA:411634
HP:0003355	Aminoaciduria	6505	SLC1A1	OMIM:222730
HP:0003355	Aminoaciduria	4952	OCRL	OMIM:300555
HP:0003355	Aminoaciduria	4952	OCRL	OMIM:309000
HP:0003355	Aminoaciduria	4952	OCRL	ORPHA:534
HP:0003355	Aminoaciduria	51095	TRNT1	OMIM:616084
HP:0003355	Aminoaciduria	4574	MT-TS1	OMIM:220110
HP:0003355	Aminoaciduria	4570	MT-TN	OMIM:220110
HP:0003355	Aminoaciduria	6834	SURF1	OMIM:220110
HP:0003355	Aminoaciduria	54914	FOCAD	OMIM:619991
HP:0003355	Aminoaciduria	540	ATP7B	ORPHA:905
HP:0003355	Aminoaciduria	540	ATP7B	OMIM:277900
HP:0003355	Aminoaciduria	2592	GALT	OMIM:230400
HP:0003355	Aminoaciduria	84334	COA8	ORPHA:436271
HP:0003355	Aminoaciduria	10667	FARS2	OMIM:614946
HP:0003355	Aminoaciduria	1184	CLCN5	OMIM:308990
HP:0003355	Aminoaciduria	1184	CLCN5	OMIM:300009
HP:0003355	Aminoaciduria	5830	PEX5	OMIM:214110
HP:0003355	Aminoaciduria	55343	SLC35C1	OMIM:266265
HP:0003355	Aminoaciduria	1373	CPS1	ORPHA:147
HP:0003355	Aminoaciduria	5009	OTC	ORPHA:664
HP:0003355	Aminoaciduria	7372	UMPS	ORPHA:30
HP:0003355	Aminoaciduria	617	BCS1L	OMIM:603358
HP:0003355	Aminoaciduria	617	BCS1L	OMIM:124000
HP:0003355	Aminoaciduria	4141	MARS1	OMIM:615486
HP:0003355	Aminoaciduria	2628	GATM	OMIM:134600
HP:0003355	Aminoaciduria	137682	NDUFAF6	OMIM:618913
HP:0003355	Aminoaciduria	55503	TRPV6	ORPHA:417
HP:0003355	Aminoaciduria	846	CASR	ORPHA:417
HP:0003355	Aminoaciduria	846	CASR	OMIM:239200
HP:0003355	Aminoaciduria	2729	GCLC	ORPHA:33574
HP:0003355	Aminoaciduria	4758	NEU1	ORPHA:812
HP:0003355	Aminoaciduria	1962	EHHADH	OMIM:615605
HP:0003355	Aminoaciduria	5189	PEX1	OMIM:214100
HP:0003355	Aminoaciduria	4942	OAT	ORPHA:414
HP:0003355	Aminoaciduria	2271	FH	OMIM:606812
HP:0003355	Aminoaciduria	10559	SLC35A1	OMIM:603585
HP:0003355	Aminoaciduria	100131801	PET100	OMIM:619055
HP:0003355	Aminoaciduria	10841	FTCD	OMIM:229100
HP:0003355	Aminoaciduria	10560	SLC19A2	OMIM:249270
HP:0003355	Aminoaciduria	7084	TK2	OMIM:609560
HP:0003355	Aminoaciduria	3172	HNF4A	OMIM:616026
HP:0003355	Aminoaciduria	50628	GEMIN4	OMIM:617913
HP:0003355	Aminoaciduria	4668	NAGA	OMIM:609242
HP:0003355	Aminoaciduria	91647	ATPAF2	OMIM:604273
HP:0003355	Aminoaciduria	3081	HGD	ORPHA:56
HP:0003355	Aminoaciduria	9056	SLC7A7	OMIM:222700
HP:0003355	Aminoaciduria	26276	VPS33B	OMIM:208085
HP:0003355	Aminoaciduria	8803	SUCLA2	OMIM:612073
HP:0003355	Aminoaciduria	8803	SUCLA2	ORPHA:1933
HP:0003355	Aminoaciduria	132158	GLYCTK	OMIM:220120
HP:0003355	Aminoaciduria	9054	NFS1	OMIM:619386
HP:0003355	Aminoaciduria	50484	RRM2B	OMIM:612075
HP:0003355	Aminoaciduria	63894	VIPAS39	OMIM:613404
HP:0003355	Aminoaciduria	26275	HIBCH	OMIM:250620
HP:0003355	Aminoaciduria	2068	ERCC2	ORPHA:910
HP:0003355	Aminoaciduria	7507	XPA	ORPHA:910
HP:0003355	Aminoaciduria	2071	ERCC3	ORPHA:910
HP:0003355	Aminoaciduria	7508	XPC	ORPHA:910
HP:0003355	Aminoaciduria	1643	DDB2	ORPHA:910
HP:0003355	Aminoaciduria	2072	ERCC4	ORPHA:910
HP:0003355	Aminoaciduria	2073	ERCC5	ORPHA:910
HP:0003355	Aminoaciduria	2582	GALE	OMIM:230350
HP:0003355	Aminoaciduria	11005	SPINK5	ORPHA:634
HP:0003355	Aminoaciduria	6999	TDO2	OMIM:600627
HP:0003355	Aminoaciduria	6519	SLC3A1	OMIM:220100
HP:0003355	Aminoaciduria	11136	SLC7A9	OMIM:220100
HP:0003355	Aminoaciduria	10157	AASS	OMIM:238700
HP:0003355	Aminoaciduria	229	ALDOB	OMIM:229600
HP:0003355	Aminoaciduria	383	ARG1	OMIM:207800
HP:0003355	Aminoaciduria	383	ARG1	ORPHA:90
HP:0003355	Aminoaciduria	57393	CLTRN	ORPHA:2116
HP:0003355	Aminoaciduria	1757	SARDH	ORPHA:3129
HP:0003355	Aminoaciduria	7381	UQCRB	OMIM:615158
HP:0003355	Aminoaciduria	51601	LIPT1	OMIM:616299
HP:0003355	Aminoaciduria	4329	ALDH6A1	OMIM:614105
HP:0003355	Aminoaciduria	10165	SLC25A13	OMIM:603471
HP:0003355	Aminoaciduria	85007	PHYKPL	OMIM:615011
HP:0003355	Aminoaciduria	29958	DMGDH	OMIM:605850
HP:0003355	Aminoaciduria	6821	SUOX	OMIM:272300
HP:0003355	Aminoaciduria	64902	AGXT2	OMIM:210100
HP:0003355	Aminoaciduria	200205	IBA57	OMIM:615330
HP:0003355	Aminoaciduria	10166	SLC25A15	OMIM:238970
HP:0003355	Aminoaciduria	2678	GGT1	OMIM:231950
HP:0003355	Aminoaciduria	443	ASPA	OMIM:271900
HP:0003355	Aminoaciduria	443	ASPA	ORPHA:314911
HP:0003355	Aminoaciduria	64849	SLC13A3	OMIM:618384
HP:0003355	Aminoaciduria	26873	OPLAH	OMIM:260005
HP:0003355	Aminoaciduria	2937	GSS	OMIM:266130
HP:0003355	Aminoaciduria	2937	GSS	OMIM:231900
HP:0003355	Aminoaciduria	55526	DHTKD1	OMIM:204750
HP:0003355	Aminoaciduria	27247	NFU1	OMIM:605711
HP:0003355	Aminoaciduria	3954	LETM1	OMIM:620089
HP:0003355	Aminoaciduria	7915	ALDH5A1	OMIM:271980
HP:0003355	Aminoaciduria	8942	KYNU	OMIM:236800
HP:0003355	Aminoaciduria	5053	PAH	OMIM:261600
HP:0003355	Aminoaciduria	6898	TAT	OMIM:276600
HP:0003355	Aminoaciduria	3712	IVD	OMIM:243500
HP:0003355	Aminoaciduria	38	ACAT1	OMIM:203750
HP:0003355	Aminoaciduria	3034	HAL	OMIM:235800
HP:0003355	Aminoaciduria	3242	HPD	OMIM:140350
HP:0002904	Hyperbilirubinemia	4953	ODC1	OMIM:619075
HP:0002904	Hyperbilirubinemia	229	ALDOB	OMIM:229600
HP:0002904	Hyperbilirubinemia	57680	CHD8	OMIM:615032
HP:0002904	Hyperbilirubinemia	6006	RHCE	OMIM:617970
HP:0002904	Hyperbilirubinemia	6006	RHCE	ORPHA:71275
HP:0002904	Hyperbilirubinemia	54914	FOCAD	OMIM:619991
HP:0002904	Hyperbilirubinemia	2936	GSR	OMIM:618660
HP:0002904	Hyperbilirubinemia	6711	SPTBN1	OMIM:619475
HP:0002904	Hyperbilirubinemia	3783	KCNN4	OMIM:616689
HP:0002904	Hyperbilirubinemia	3145	HMBS	OMIM:620704
HP:0002904	Hyperbilirubinemia	222546	RFX6	OMIM:615710
HP:0002904	Hyperbilirubinemia	100151683	RNU4ATAC	OMIM:210710
HP:0002904	Hyperbilirubinemia	132	ADK	OMIM:614300
HP:0002904	Hyperbilirubinemia	6710	SPTB	OMIM:616649
HP:0002904	Hyperbilirubinemia	6710	SPTB	ORPHA:822
HP:0002904	Hyperbilirubinemia	6710	SPTB	ORPHA:288
HP:0002904	Hyperbilirubinemia	57539	WDR35	OMIM:613610
HP:0002904	Hyperbilirubinemia	9420	CYP7B1	OMIM:613812
HP:0002904	Hyperbilirubinemia	9420	CYP7B1	ORPHA:79302
HP:0002904	Hyperbilirubinemia	23600	AMACR	OMIM:214950
HP:0002904	Hyperbilirubinemia	2623	GATA1	OMIM:301083
HP:0002904	Hyperbilirubinemia	286	ANK1	OMIM:182900
HP:0002904	Hyperbilirubinemia	286	ANK1	ORPHA:822
HP:0002904	Hyperbilirubinemia	2038	EPB42	ORPHA:822
HP:0002904	Hyperbilirubinemia	6521	SLC4A1	ORPHA:822
HP:0002904	Hyperbilirubinemia	6521	SLC4A1	OMIM:612653
HP:0002904	Hyperbilirubinemia	6708	SPTA1	ORPHA:822
HP:0002904	Hyperbilirubinemia	6708	SPTA1	ORPHA:288
HP:0002904	Hyperbilirubinemia	6718	AKR1D1	ORPHA:79303
HP:0002904	Hyperbilirubinemia	6718	AKR1D1	OMIM:235555
HP:0002904	Hyperbilirubinemia	10165	SLC25A13	OMIM:605814
HP:0002904	Hyperbilirubinemia	10165	SLC25A13	ORPHA:247598
HP:0002904	Hyperbilirubinemia	7849	PAX8	OMIM:218700
HP:0002904	Hyperbilirubinemia	5443	POMC	OMIM:609734
HP:0002904	Hyperbilirubinemia	6573	SLC19A1	OMIM:601775
HP:0002904	Hyperbilirubinemia	55610	VPS50	OMIM:619685
HP:0002904	Hyperbilirubinemia	6514	SLC2A2	OMIM:227810
HP:0002904	Hyperbilirubinemia	374879	ZNF699	OMIM:619488
HP:0002904	Hyperbilirubinemia	5205	ATP8B1	ORPHA:69665
HP:0002904	Hyperbilirubinemia	8647	ABCB11	ORPHA:69665
HP:0002904	Hyperbilirubinemia	5244	ABCB4	ORPHA:69665
HP:0002904	Hyperbilirubinemia	9971	NR1H4	ORPHA:69665
HP:0002904	Hyperbilirubinemia	3098	HK1	OMIM:235700
HP:0002904	Hyperbilirubinemia	226	ALDOA	OMIM:611881
HP:0002904	Hyperbilirubinemia	5015	OTX2	OMIM:613986
HP:0002904	Hyperbilirubinemia	9338	TCEAL1	OMIM:301094
HP:0002904	Hyperbilirubinemia	540	ATP7B	OMIM:277900
HP:0002904	Hyperbilirubinemia	2271	FH	OMIM:606812
HP:0002904	Hyperbilirubinemia	9968	MED12	OMIM:301068
HP:0002904	Hyperbilirubinemia	9493	KIF23	ORPHA:98870
HP:0002904	Hyperbilirubinemia	29127	RACGAP1	ORPHA:98870
HP:0002904	Hyperbilirubinemia	6005	RHAG	OMIM:185000
HP:0002904	Hyperbilirubinemia	6005	RHAG	ORPHA:71275
HP:0002904	Hyperbilirubinemia	55687	TRMU	OMIM:613070
HP:0002904	Hyperbilirubinemia	79989	IFT56	OMIM:619534
HP:0002904	Hyperbilirubinemia	3930	LBR	OMIM:613471
HP:0002904	Hyperbilirubinemia	7019	TFAM	OMIM:617156
HP:0002904	Hyperbilirubinemia	8260	NAA10	OMIM:300855
HP:0002904	Hyperbilirubinemia	10661	KLF1	OMIM:613673
HP:0002904	Hyperbilirubinemia	4358	MPV17	OMIM:256810
HP:0002904	Hyperbilirubinemia	5824	PEX19	OMIM:614886
HP:0002904	Hyperbilirubinemia	9451	EIF2AK3	ORPHA:1667
HP:0002904	Hyperbilirubinemia	1716	DGUOK	OMIM:251880
HP:0002904	Hyperbilirubinemia	28962	OSTM1	OMIM:259720
HP:0002904	Hyperbilirubinemia	2035	EPB41	ORPHA:288
HP:0002904	Hyperbilirubinemia	2995	GYPC	ORPHA:288
HP:0002904	Hyperbilirubinemia	4547	MTTP	ORPHA:14
HP:0002904	Hyperbilirubinemia	51251	NT5C3A	OMIM:266120
HP:0002904	Hyperbilirubinemia	5825	ABCD3	OMIM:616278
HP:0002904	Hyperbilirubinemia	146059	CDAN1	OMIM:224120
HP:0002904	Hyperbilirubinemia	5230	PGK1	ORPHA:713
HP:0002904	Hyperbilirubinemia	28234	SLCO1B3	ORPHA:3111
HP:0002904	Hyperbilirubinemia	10599	SLCO1B1	ORPHA:3111
HP:0002904	Hyperbilirubinemia	26276	VPS33B	OMIM:620010
HP:0002904	Hyperbilirubinemia	6007	RHD	ORPHA:71275
HP:0002904	Hyperbilirubinemia	6309	SC5D	OMIM:607330
HP:0002904	Hyperbilirubinemia	1244	ABCC2	ORPHA:234
HP:0002904	Hyperbilirubinemia	1244	ABCC2	OMIM:237500
HP:0002904	Hyperbilirubinemia	80270	HSD3B7	OMIM:607765
HP:0002904	Hyperbilirubinemia	3376	IARS1	OMIM:617093
HP:0002904	Hyperbilirubinemia	51218	GLRX5	OMIM:616860
HP:0002904	Hyperbilirubinemia	2629	GBA1	ORPHA:85212
HP:0002904	Hyperbilirubinemia	26503	SLC17A5	OMIM:269920
HP:0002904	Hyperbilirubinemia	570	BAAT	OMIM:619232
HP:0002904	Hyperbilirubinemia	3643	INSR	OMIM:246200
HP:0002904	Hyperbilirubinemia	11232	POLG2	OMIM:618528
HP:0002904	Hyperbilirubinemia	5828	PEX2	OMIM:614866
HP:0002904	Hyperbilirubinemia	6091	ROBO1	OMIM:620305
HP:0002904	Hyperbilirubinemia	5195	PEX14	OMIM:614887
HP:0002904	Hyperbilirubinemia	6513	SLC2A1	ORPHA:168577
HP:0002904	Hyperbilirubinemia	6513	SLC2A1	OMIM:608885
HP:0002904	Hyperbilirubinemia	5314	PKHD1	ORPHA:53035
HP:0002904	Hyperbilirubinemia	5009	OTC	ORPHA:664
HP:0002904	Hyperbilirubinemia	197131	UBR1	OMIM:243800
HP:0002904	Hyperbilirubinemia	3594	IL12RB1	ORPHA:186
HP:0002904	Hyperbilirubinemia	23534	TNPO3	ORPHA:186
HP:0002904	Hyperbilirubinemia	3592	IL12A	ORPHA:186
HP:0002904	Hyperbilirubinemia	6689	SPIB	ORPHA:186
HP:0002904	Hyperbilirubinemia	5450	POU2AF1	ORPHA:186
HP:0002904	Hyperbilirubinemia	9966	TNFSF15	ORPHA:186
HP:0002904	Hyperbilirubinemia	79258	MMEL1	ORPHA:186
HP:0002904	Hyperbilirubinemia	3663	IRF5	ORPHA:186
HP:0002904	Hyperbilirubinemia	200931	SLC51A	OMIM:619484
HP:0002904	Hyperbilirubinemia	113220	KIF12	OMIM:619662
HP:0002904	Hyperbilirubinemia	63894	VIPAS39	OMIM:613404
HP:0002904	Hyperbilirubinemia	4645	MYO5B	OMIM:619868
HP:0002904	Hyperbilirubinemia	4067	LYN	OMIM:620376
HP:0002904	Hyperbilirubinemia	3479	IGF1	ORPHA:73272
HP:0002904	Hyperbilirubinemia	7355	SLC35A2	OMIM:300896
HP:0002904	Hyperbilirubinemia	2876	GPX1	OMIM:614164
HP:0002904	Hyperbilirubinemia	405753	DUOXA2	ORPHA:95716
HP:0002904	Hyperbilirubinemia	6528	SLC5A5	ORPHA:95716
HP:0002904	Hyperbilirubinemia	7038	TG	ORPHA:95716
HP:0002904	Hyperbilirubinemia	7173	TPO	ORPHA:95716
HP:0002904	Hyperbilirubinemia	389434	IYD	ORPHA:95716
HP:0002904	Hyperbilirubinemia	50506	DUOX2	ORPHA:95716
HP:0002904	Hyperbilirubinemia	10908	PNPLA6	ORPHA:3363
HP:0002904	Hyperbilirubinemia	5048	PAFAH1B1	ORPHA:95232
HP:0002904	Hyperbilirubinemia	9780	PIEZO1	ORPHA:3202
HP:0002904	Hyperbilirubinemia	2203	FBP1	ORPHA:348
HP:0002904	Hyperbilirubinemia	1371	CPOX	OMIM:618892
HP:0002904	Hyperbilirubinemia	7319	UBE2A	ORPHA:163956
HP:0002904	Hyperbilirubinemia	54658	UGT1A1	ORPHA:79234
HP:0002904	Hyperbilirubinemia	54658	UGT1A1	ORPHA:79235
HP:0002904	Hyperbilirubinemia	7253	TSHR	ORPHA:90673
HP:0002904	Hyperbilirubinemia	7252	TSHB	ORPHA:90674
HP:0002904	Hyperbilirubinemia	5551	PRF1	OMIM:603553
HP:0002904	Hyperbilirubinemia	1376	CPT2	OMIM:608836
HP:0002904	Hyperbilirubinemia	51601	LIPT1	OMIM:616299
HP:0002904	Hyperbilirubinemia	5213	PFKM	OMIM:232800
HP:0002904	Hyperbilirubinemia	11231	SEC63	ORPHA:2924
HP:0002904	Hyperbilirubinemia	5589	PRKCSH	ORPHA:2924
HP:0002904	Hyperbilirubinemia	5589	PRKCSH	OMIM:174050
HP:0002904	Hyperbilirubinemia	4041	LRP5	ORPHA:2924
HP:0002904	Hyperbilirubinemia	51473	DCDC2	ORPHA:84081
HP:0002904	Hyperbilirubinemia	91147	TMEM67	ORPHA:84081
HP:0002904	Hyperbilirubinemia	5313	PKLR	OMIM:266200
HP:0002904	Hyperbilirubinemia	5313	PKLR	ORPHA:766
HP:0002904	Hyperbilirubinemia	3043	HBB	ORPHA:232
HP:0002904	Hyperbilirubinemia	55532	SLC30A10	OMIM:613280
HP:0002904	Hyperbilirubinemia	6554	SLC10A1	OMIM:619256
HP:0002904	Hyperbilirubinemia	374354	NHLRC2	OMIM:618278
HP:0002904	Hyperbilirubinemia	8573	CASK	OMIM:300908
HP:0002904	Hyperbilirubinemia	2539	G6PD	OMIM:300908
HP:0002904	Hyperbilirubinemia	7080	NKX2-1	ORPHA:95713
HP:0002904	Hyperbilirubinemia	1482	NKX2-5	ORPHA:95713
HP:0002904	Hyperbilirubinemia	2304	FOXE1	ORPHA:95713
HP:0002904	Hyperbilirubinemia	5172	SLC26A4	ORPHA:95713
HP:0002904	Hyperbilirubinemia	10056	FARSB	OMIM:613658
HP:0002904	Hyperbilirubinemia	7390	UROS	ORPHA:79277
HP:0002904	Hyperbilirubinemia	8085	KMT2D	OMIM:620186
HP:0002904	Hyperbilirubinemia	5277	PIGA	ORPHA:447
HP:0002905	Hyperphosphatemia	9247	GCM2	OMIM:618883
HP:0002905	Hyperphosphatemia	9247	GCM2	ORPHA:2239
HP:0002905	Hyperphosphatemia	9365	KL	OMIM:617994
HP:0002905	Hyperphosphatemia	6905	TBCE	OMIM:241410
HP:0002905	Hyperphosphatemia	6905	TBCE	ORPHA:2323
HP:0002905	Hyperphosphatemia	2778	GNAS	OMIM:612462
HP:0002905	Hyperphosphatemia	2778	GNAS	ORPHA:94089
HP:0002905	Hyperphosphatemia	2778	GNAS	ORPHA:79443
HP:0002905	Hyperphosphatemia	2778	GNAS	ORPHA:79444
HP:0002905	Hyperphosphatemia	2778	GNAS	ORPHA:79445
HP:0002905	Hyperphosphatemia	2778	GNAS	OMIM:603233
HP:0002905	Hyperphosphatemia	2778	GNAS	OMIM:103580
HP:0002905	Hyperphosphatemia	5741	PTH	OMIM:146200
HP:0002905	Hyperphosphatemia	2591	GALNT3	OMIM:211900
HP:0002905	Hyperphosphatemia	2767	GNA11	ORPHA:428
HP:0002905	Hyperphosphatemia	846	CASR	ORPHA:428
HP:0002905	Hyperphosphatemia	846	CASR	OMIM:601198
HP:0002905	Hyperphosphatemia	63901	FAM111A	OMIM:127000
HP:0002905	Hyperphosphatemia	63901	FAM111A	ORPHA:93325
HP:0002905	Hyperphosphatemia	6261	RYR1	ORPHA:466650
HP:0002905	Hyperphosphatemia	6261	RYR1	ORPHA:423
HP:0002905	Hyperphosphatemia	6261	RYR1	OMIM:145600
HP:0002905	Hyperphosphatemia	8675	STX16	ORPHA:94089
HP:0002905	Hyperphosphatemia	8675	STX16	OMIM:603233
HP:0002905	Hyperphosphatemia	779	CACNA1S	ORPHA:423
HP:0002905	Hyperphosphatemia	4982	TNFRSF11B	OMIM:239000
HP:0002905	Hyperphosphatemia	149775	GNAS-AS1	OMIM:603233
HP:0002905	Hyperphosphatemia	406932	MIR140	OMIM:618618
HP:0002905	Hyperphosphatemia	10686	CLDN16	OMIM:248250
HP:0002905	Hyperphosphatemia	5573	PRKAR1A	OMIM:101800
HP:0002905	Hyperphosphatemia	84033	OBSCN	ORPHA:99845
HP:0002905	Hyperphosphatemia	23175	LPIN1	ORPHA:99845
HP:0002905	Hyperphosphatemia	4512	MT-CO1	ORPHA:99845
HP:0002905	Hyperphosphatemia	4514	MT-CO3	ORPHA:99845
HP:0003236	Elevated circulating creatine kinase concentration	1410	CRYAB	OMIM:608810
HP:0003236	Elevated circulating creatine kinase concentration	1410	CRYAB	OMIM:615184
HP:0003236	Elevated circulating creatine kinase concentration	1410	CRYAB	OMIM:613869
HP:0003236	Elevated circulating creatine kinase concentration	29925	GMPPB	OMIM:615350
HP:0003236	Elevated circulating creatine kinase concentration	29925	GMPPB	OMIM:615351
HP:0003236	Elevated circulating creatine kinase concentration	29925	GMPPB	OMIM:615352
HP:0003236	Elevated circulating creatine kinase concentration	29925	GMPPB	ORPHA:588
HP:0003236	Elevated circulating creatine kinase concentration	29925	GMPPB	ORPHA:370968
HP:0003236	Elevated circulating creatine kinase concentration	29925	GMPPB	ORPHA:370959
HP:0003236	Elevated circulating creatine kinase concentration	29925	GMPPB	ORPHA:353327
HP:0003236	Elevated circulating creatine kinase concentration	29925	GMPPB	ORPHA:363623
HP:0003236	Elevated circulating creatine kinase concentration	3094	HINT1	ORPHA:324442
HP:0003236	Elevated circulating creatine kinase concentration	3094	HINT1	OMIM:137200
HP:0003236	Elevated circulating creatine kinase concentration	8106	PABPN1	ORPHA:270
HP:0003236	Elevated circulating creatine kinase concentration	8106	PABPN1	OMIM:164300
HP:0003236	Elevated circulating creatine kinase concentration	7415	VCP	OMIM:616687
HP:0003236	Elevated circulating creatine kinase concentration	7415	VCP	OMIM:167320
HP:0003236	Elevated circulating creatine kinase concentration	7415	VCP	ORPHA:435387
HP:0003236	Elevated circulating creatine kinase concentration	7415	VCP	OMIM:613954
HP:0003236	Elevated circulating creatine kinase concentration	7415	VCP	ORPHA:52430
HP:0003236	Elevated circulating creatine kinase concentration	60684	TRAPPC11	OMIM:615356
HP:0003236	Elevated circulating creatine kinase concentration	9927	MFN2	OMIM:151800
HP:0003236	Elevated circulating creatine kinase concentration	400916	CHCHD10	OMIM:616209
HP:0003236	Elevated circulating creatine kinase concentration	400916	CHCHD10	OMIM:615048
HP:0003236	Elevated circulating creatine kinase concentration	400916	CHCHD10	ORPHA:276435
HP:0003236	Elevated circulating creatine kinase concentration	5361	PLXNA1	OMIM:619955
HP:0003236	Elevated circulating creatine kinase concentration	55733	HHAT	OMIM:600092
HP:0003236	Elevated circulating creatine kinase concentration	8291	DYSF	OMIM:253601
HP:0003236	Elevated circulating creatine kinase concentration	8291	DYSF	ORPHA:268
HP:0003236	Elevated circulating creatine kinase concentration	8291	DYSF	OMIM:254130
HP:0003236	Elevated circulating creatine kinase concentration	8291	DYSF	OMIM:606768
HP:0003236	Elevated circulating creatine kinase concentration	825	CAPN3	OMIM:253600
HP:0003236	Elevated circulating creatine kinase concentration	825	CAPN3	ORPHA:267
HP:0003236	Elevated circulating creatine kinase concentration	825	CAPN3	OMIM:618129
HP:0003236	Elevated circulating creatine kinase concentration	22947	DUX4L1	ORPHA:269
HP:0003236	Elevated circulating creatine kinase concentration	1789	DNMT3B	ORPHA:269
HP:0003236	Elevated circulating creatine kinase concentration	2483	FRG1	ORPHA:269
HP:0003236	Elevated circulating creatine kinase concentration	2483	FRG1	OMIM:158900
HP:0003236	Elevated circulating creatine kinase concentration	23347	SMCHD1	ORPHA:269
HP:0003236	Elevated circulating creatine kinase concentration	100288687	DUX4	ORPHA:269
HP:0003236	Elevated circulating creatine kinase concentration	9499	MYOT	ORPHA:266
HP:0003236	Elevated circulating creatine kinase concentration	9499	MYOT	OMIM:609200
HP:0003236	Elevated circulating creatine kinase concentration	9499	MYOT	ORPHA:98911
HP:0003236	Elevated circulating creatine kinase concentration	4000	LMNA	OMIM:181350
HP:0003236	Elevated circulating creatine kinase concentration	4000	LMNA	OMIM:613205
HP:0003236	Elevated circulating creatine kinase concentration	4000	LMNA	ORPHA:98855
HP:0003236	Elevated circulating creatine kinase concentration	4000	LMNA	ORPHA:98853
HP:0003236	Elevated circulating creatine kinase concentration	4000	LMNA	OMIM:616516
HP:0003236	Elevated circulating creatine kinase concentration	5339	PLEC	ORPHA:254361
HP:0003236	Elevated circulating creatine kinase concentration	5339	PLEC	OMIM:613723
HP:0003236	Elevated circulating creatine kinase concentration	5339	PLEC	ORPHA:158684
HP:0003236	Elevated circulating creatine kinase concentration	3074	HEXB	ORPHA:309169
HP:0003236	Elevated circulating creatine kinase concentration	7273	TTN	OMIM:608807
HP:0003236	Elevated circulating creatine kinase concentration	7273	TTN	OMIM:603689
HP:0003236	Elevated circulating creatine kinase concentration	7273	TTN	OMIM:611705
HP:0003236	Elevated circulating creatine kinase concentration	7273	TTN	ORPHA:178464
HP:0003236	Elevated circulating creatine kinase concentration	1785	DNM2	OMIM:615368
HP:0003236	Elevated circulating creatine kinase concentration	1785	DNM2	OMIM:160150
HP:0003236	Elevated circulating creatine kinase concentration	84466	MEGF10	OMIM:614399
HP:0003236	Elevated circulating creatine kinase concentration	84466	MEGF10	OMIM:620249
HP:0003236	Elevated circulating creatine kinase concentration	84197	POMK	OMIM:615249
HP:0003236	Elevated circulating creatine kinase concentration	84197	POMK	ORPHA:370959
HP:0003236	Elevated circulating creatine kinase concentration	84197	POMK	OMIM:616094
HP:0003236	Elevated circulating creatine kinase concentration	22954	TRIM32	ORPHA:1878
HP:0003236	Elevated circulating creatine kinase concentration	22954	TRIM32	OMIM:254110
HP:0003236	Elevated circulating creatine kinase concentration	4625	MYH7	OMIM:160500
HP:0003236	Elevated circulating creatine kinase concentration	4625	MYH7	OMIM:255160
HP:0003236	Elevated circulating creatine kinase concentration	6444	SGCD	OMIM:601287
HP:0003236	Elevated circulating creatine kinase concentration	6444	SGCD	OMIM:606685
HP:0003236	Elevated circulating creatine kinase concentration	79147	FKRP	OMIM:606612
HP:0003236	Elevated circulating creatine kinase concentration	79147	FKRP	ORPHA:34515
HP:0003236	Elevated circulating creatine kinase concentration	79147	FKRP	ORPHA:588
HP:0003236	Elevated circulating creatine kinase concentration	79147	FKRP	OMIM:236670
HP:0003236	Elevated circulating creatine kinase concentration	79147	FKRP	ORPHA:370968
HP:0003236	Elevated circulating creatine kinase concentration	79147	FKRP	ORPHA:370959
HP:0003236	Elevated circulating creatine kinase concentration	79147	FKRP	OMIM:607155
HP:0003236	Elevated circulating creatine kinase concentration	79147	FKRP	OMIM:613153
HP:0003236	Elevated circulating creatine kinase concentration	55154	MSTO1	OMIM:617675
HP:0003236	Elevated circulating creatine kinase concentration	1292	COL6A2	OMIM:620727
HP:0003236	Elevated circulating creatine kinase concentration	1292	COL6A2	OMIM:620725
HP:0003236	Elevated circulating creatine kinase concentration	1292	COL6A2	ORPHA:610
HP:0003236	Elevated circulating creatine kinase concentration	1292	COL6A2	ORPHA:75840
HP:0003236	Elevated circulating creatine kinase concentration	1292	COL6A2	OMIM:255600
HP:0003236	Elevated circulating creatine kinase concentration	311	ANXA11	OMIM:619733
HP:0003236	Elevated circulating creatine kinase concentration	29958	DMGDH	ORPHA:243343
HP:0003236	Elevated circulating creatine kinase concentration	29958	DMGDH	OMIM:605850
HP:0003236	Elevated circulating creatine kinase concentration	6445	SGCG	OMIM:253700
HP:0003236	Elevated circulating creatine kinase concentration	6445	SGCG	ORPHA:353
HP:0003236	Elevated circulating creatine kinase concentration	9217	VAPB	ORPHA:209335
HP:0003236	Elevated circulating creatine kinase concentration	1605	DAG1	ORPHA:280333
HP:0003236	Elevated circulating creatine kinase concentration	1605	DAG1	ORPHA:370997
HP:0003236	Elevated circulating creatine kinase concentration	1605	DAG1	OMIM:613818
HP:0003236	Elevated circulating creatine kinase concentration	1605	DAG1	OMIM:616538
HP:0003236	Elevated circulating creatine kinase concentration	1303	COL12A1	OMIM:616471
HP:0003236	Elevated circulating creatine kinase concentration	1303	COL12A1	ORPHA:610
HP:0003236	Elevated circulating creatine kinase concentration	1303	COL12A1	ORPHA:75840
HP:0003236	Elevated circulating creatine kinase concentration	7386	UQCRFS1	OMIM:618775
HP:0003236	Elevated circulating creatine kinase concentration	5442	POLRMT	OMIM:619743
HP:0003236	Elevated circulating creatine kinase concentration	83636	C19orf12	OMIM:614298
HP:0003236	Elevated circulating creatine kinase concentration	5224	PGAM2	OMIM:261670
HP:0003236	Elevated circulating creatine kinase concentration	1293	COL6A3	OMIM:620728
HP:0003236	Elevated circulating creatine kinase concentration	1293	COL6A3	ORPHA:610
HP:0003236	Elevated circulating creatine kinase concentration	1293	COL6A3	ORPHA:75840
HP:0003236	Elevated circulating creatine kinase concentration	844	CASQ1	OMIM:616231
HP:0003236	Elevated circulating creatine kinase concentration	844	CASQ1	ORPHA:88635
HP:0003236	Elevated circulating creatine kinase concentration	246243	RNASEH1	OMIM:616479
HP:0003236	Elevated circulating creatine kinase concentration	88	ACTN2	OMIM:618655
HP:0003236	Elevated circulating creatine kinase concentration	54840	APTX	OMIM:208920
HP:0003236	Elevated circulating creatine kinase concentration	79731	NARS2	OMIM:616239
HP:0003236	Elevated circulating creatine kinase concentration	284439	SLC25A42	OMIM:618416
HP:0003236	Elevated circulating creatine kinase concentration	4359	MPZ	ORPHA:101082
HP:0003236	Elevated circulating creatine kinase concentration	59341	TRPV4	OMIM:600175
HP:0003236	Elevated circulating creatine kinase concentration	6261	RYR1	ORPHA:597
HP:0003236	Elevated circulating creatine kinase concentration	6261	RYR1	OMIM:619542
HP:0003236	Elevated circulating creatine kinase concentration	6261	RYR1	ORPHA:424107
HP:0003236	Elevated circulating creatine kinase concentration	6261	RYR1	OMIM:145600
HP:0003236	Elevated circulating creatine kinase concentration	6261	RYR1	ORPHA:466650
HP:0003236	Elevated circulating creatine kinase concentration	1763	DNA2	OMIM:615156
HP:0003236	Elevated circulating creatine kinase concentration	9453	GGPS1	OMIM:619518
HP:0003236	Elevated circulating creatine kinase concentration	148789	B3GALNT2	ORPHA:588
HP:0003236	Elevated circulating creatine kinase concentration	148789	B3GALNT2	OMIM:615181
HP:0003236	Elevated circulating creatine kinase concentration	9215	LARGE1	ORPHA:588
HP:0003236	Elevated circulating creatine kinase concentration	9215	LARGE1	OMIM:236670
HP:0003236	Elevated circulating creatine kinase concentration	9215	LARGE1	ORPHA:370968
HP:0003236	Elevated circulating creatine kinase concentration	9215	LARGE1	OMIM:608840
HP:0003236	Elevated circulating creatine kinase concentration	9215	LARGE1	OMIM:613154
HP:0003236	Elevated circulating creatine kinase concentration	29954	POMT2	ORPHA:588
HP:0003236	Elevated circulating creatine kinase concentration	29954	POMT2	OMIM:236670
HP:0003236	Elevated circulating creatine kinase concentration	29954	POMT2	ORPHA:370968
HP:0003236	Elevated circulating creatine kinase concentration	29954	POMT2	ORPHA:370959
HP:0003236	Elevated circulating creatine kinase concentration	29954	POMT2	ORPHA:206559
HP:0003236	Elevated circulating creatine kinase concentration	29954	POMT2	OMIM:613150
HP:0003236	Elevated circulating creatine kinase concentration	29954	POMT2	OMIM:613156
HP:0003236	Elevated circulating creatine kinase concentration	29954	POMT2	OMIM:613158
HP:0003236	Elevated circulating creatine kinase concentration	2218	FKTN	ORPHA:588
HP:0003236	Elevated circulating creatine kinase concentration	2218	FKTN	OMIM:236670
HP:0003236	Elevated circulating creatine kinase concentration	2218	FKTN	OMIM:611615
HP:0003236	Elevated circulating creatine kinase concentration	2218	FKTN	OMIM:253800
HP:0003236	Elevated circulating creatine kinase concentration	2218	FKTN	OMIM:611588
HP:0003236	Elevated circulating creatine kinase concentration	2218	FKTN	OMIM:613152
HP:0003236	Elevated circulating creatine kinase concentration	729920	CRPPA	ORPHA:588
HP:0003236	Elevated circulating creatine kinase concentration	729920	CRPPA	OMIM:616052
HP:0003236	Elevated circulating creatine kinase concentration	729920	CRPPA	OMIM:614643
HP:0003236	Elevated circulating creatine kinase concentration	55624	POMGNT1	ORPHA:588
HP:0003236	Elevated circulating creatine kinase concentration	55624	POMGNT1	ORPHA:370959
HP:0003236	Elevated circulating creatine kinase concentration	55624	POMGNT1	OMIM:253280
HP:0003236	Elevated circulating creatine kinase concentration	55624	POMGNT1	OMIM:613151
HP:0003236	Elevated circulating creatine kinase concentration	55624	POMGNT1	OMIM:613157
HP:0003236	Elevated circulating creatine kinase concentration	10585	POMT1	ORPHA:588
HP:0003236	Elevated circulating creatine kinase concentration	10585	POMT1	OMIM:236670
HP:0003236	Elevated circulating creatine kinase concentration	10585	POMT1	ORPHA:370968
HP:0003236	Elevated circulating creatine kinase concentration	10585	POMT1	ORPHA:370959
HP:0003236	Elevated circulating creatine kinase concentration	10585	POMT1	OMIM:609308
HP:0003236	Elevated circulating creatine kinase concentration	10585	POMT1	ORPHA:86812
HP:0003236	Elevated circulating creatine kinase concentration	10585	POMT1	OMIM:613155
HP:0003236	Elevated circulating creatine kinase concentration	1674	DES	OMIM:604765
HP:0003236	Elevated circulating creatine kinase concentration	8818	DPM2	OMIM:615042
HP:0003236	Elevated circulating creatine kinase concentration	8818	DPM2	ORPHA:329178
HP:0003236	Elevated circulating creatine kinase concentration	11041	B4GAT1	OMIM:615287
HP:0003236	Elevated circulating creatine kinase concentration	56652	TWNK	OMIM:616138
HP:0003236	Elevated circulating creatine kinase concentration	56652	TWNK	ORPHA:254892
HP:0003236	Elevated circulating creatine kinase concentration	10342	TFG	ORPHA:90117
HP:0003236	Elevated circulating creatine kinase concentration	10531	PITRM1	OMIM:619405
HP:0003236	Elevated circulating creatine kinase concentration	2683	B4GALT1	ORPHA:79332
HP:0003236	Elevated circulating creatine kinase concentration	2683	B4GALT1	OMIM:607091
HP:0003236	Elevated circulating creatine kinase concentration	91949	COG7	ORPHA:79333
HP:0003236	Elevated circulating creatine kinase concentration	91949	COG7	OMIM:608779
HP:0003236	Elevated circulating creatine kinase concentration	57104	PNPLA2	OMIM:610717
HP:0003236	Elevated circulating creatine kinase concentration	57104	PNPLA2	ORPHA:565612
HP:0003236	Elevated circulating creatine kinase concentration	57724	EPG5	OMIM:242840
HP:0003236	Elevated circulating creatine kinase concentration	23299	BICD2	OMIM:615290
HP:0003236	Elevated circulating creatine kinase concentration	339855	KY	OMIM:617114
HP:0003236	Elevated circulating creatine kinase concentration	56983	POGLUT1	OMIM:617232
HP:0003236	Elevated circulating creatine kinase concentration	6709	SPTAN1	OMIM:620528
HP:0003236	Elevated circulating creatine kinase concentration	859	CAV3	OMIM:123320
HP:0003236	Elevated circulating creatine kinase concentration	859	CAV3	ORPHA:206599
HP:0003236	Elevated circulating creatine kinase concentration	859	CAV3	OMIM:606072
HP:0003236	Elevated circulating creatine kinase concentration	859	CAV3	OMIM:614321
HP:0003236	Elevated circulating creatine kinase concentration	6240	RRM1	OMIM:620647
HP:0003236	Elevated circulating creatine kinase concentration	5213	PFKM	OMIM:232800
HP:0003236	Elevated circulating creatine kinase concentration	3339	HSPG2	OMIM:255800
HP:0003236	Elevated circulating creatine kinase concentration	3339	HSPG2	ORPHA:800
HP:0003236	Elevated circulating creatine kinase concentration	8813	DPM1	ORPHA:79322
HP:0003236	Elevated circulating creatine kinase concentration	8813	DPM1	OMIM:608799
HP:0003236	Elevated circulating creatine kinase concentration	9526	MPDU1	ORPHA:79323
HP:0003236	Elevated circulating creatine kinase concentration	5837	PYGM	ORPHA:368
HP:0003236	Elevated circulating creatine kinase concentration	5837	PYGM	OMIM:232600
HP:0003236	Elevated circulating creatine kinase concentration	4633	MYL2	OMIM:619424
HP:0003236	Elevated circulating creatine kinase concentration	51117	COQ4	OMIM:616276
HP:0003236	Elevated circulating creatine kinase concentration	5256	PHKA2	ORPHA:264580
HP:0003236	Elevated circulating creatine kinase concentration	5261	PHKG2	ORPHA:264580
HP:0003236	Elevated circulating creatine kinase concentration	51693	TRAPPC2L	OMIM:618331
HP:0003236	Elevated circulating creatine kinase concentration	58497	PRUNE1	ORPHA:544469
HP:0003236	Elevated circulating creatine kinase concentration	6443	SGCB	ORPHA:119
HP:0003236	Elevated circulating creatine kinase concentration	6443	SGCB	OMIM:604286
HP:0003236	Elevated circulating creatine kinase concentration	389827	MYMK	OMIM:254940
HP:0003236	Elevated circulating creatine kinase concentration	8803	SUCLA2	ORPHA:1933
HP:0003236	Elevated circulating creatine kinase concentration	8803	SUCLA2	OMIM:612073
HP:0003236	Elevated circulating creatine kinase concentration	58	ACTA1	ORPHA:97240
HP:0003236	Elevated circulating creatine kinase concentration	58	ACTA1	ORPHA:171436
HP:0003236	Elevated circulating creatine kinase concentration	291	SLC25A4	ORPHA:254892
HP:0003236	Elevated circulating creatine kinase concentration	291	SLC25A4	OMIM:615418
HP:0003236	Elevated circulating creatine kinase concentration	5428	POLG	ORPHA:254892
HP:0003236	Elevated circulating creatine kinase concentration	5428	POLG	OMIM:258450
HP:0003236	Elevated circulating creatine kinase concentration	5428	POLG	ORPHA:254886
HP:0003236	Elevated circulating creatine kinase concentration	11232	POLG2	ORPHA:254892
HP:0003236	Elevated circulating creatine kinase concentration	11232	POLG2	OMIM:610131
HP:0003236	Elevated circulating creatine kinase concentration	50484	RRM2B	ORPHA:254892
HP:0003236	Elevated circulating creatine kinase concentration	353116	RILPL1	OMIM:619790
HP:0003236	Elevated circulating creatine kinase concentration	10020	GNE	OMIM:605820
HP:0003236	Elevated circulating creatine kinase concentration	23516	SLC39A14	OMIM:617013
HP:0003236	Elevated circulating creatine kinase concentration	160418	TMTC3	OMIM:617255
HP:0003236	Elevated circulating creatine kinase concentration	79912	PYROXD1	OMIM:617258
HP:0003236	Elevated circulating creatine kinase concentration	1756	DMD	OMIM:310200
HP:0003236	Elevated circulating creatine kinase concentration	1756	DMD	ORPHA:98895
HP:0003236	Elevated circulating creatine kinase concentration	1756	DMD	ORPHA:98896
HP:0003236	Elevated circulating creatine kinase concentration	1756	DMD	ORPHA:206546
HP:0003236	Elevated circulating creatine kinase concentration	1756	DMD	OMIM:300376
HP:0003236	Elevated circulating creatine kinase concentration	203547	VMA21	OMIM:310440
HP:0003236	Elevated circulating creatine kinase concentration	7443	VRK1	OMIM:620542
HP:0003236	Elevated circulating creatine kinase concentration	3032	HADHB	OMIM:620300
HP:0003236	Elevated circulating creatine kinase concentration	10102	TSFM	OMIM:610505
HP:0003236	Elevated circulating creatine kinase concentration	6442	SGCA	OMIM:608099
HP:0003236	Elevated circulating creatine kinase concentration	6442	SGCA	ORPHA:62
HP:0003236	Elevated circulating creatine kinase concentration	10049	DNAJB6	OMIM:603511
HP:0003236	Elevated circulating creatine kinase concentration	1120	CHKB	OMIM:602541
HP:0003236	Elevated circulating creatine kinase concentration	7555	CNBP	OMIM:602668
HP:0003236	Elevated circulating creatine kinase concentration	7084	TK2	ORPHA:254886
HP:0003236	Elevated circulating creatine kinase concentration	7084	TK2	OMIM:617069
HP:0003236	Elevated circulating creatine kinase concentration	7084	TK2	OMIM:609560
HP:0003236	Elevated circulating creatine kinase concentration	3714	JAG2	OMIM:619566
HP:0003236	Elevated circulating creatine kinase concentration	92667	MGME1	OMIM:615084
HP:0003236	Elevated circulating creatine kinase concentration	92667	MGME1	ORPHA:352447
HP:0003236	Elevated circulating creatine kinase concentration	8867	SYNJ1	OMIM:617389
HP:0003236	Elevated circulating creatine kinase concentration	63895	PIEZO2	OMIM:617146
HP:0003236	Elevated circulating creatine kinase concentration	150	ADRA2A	OMIM:620679
HP:0003236	Elevated circulating creatine kinase concentration	3939	LDHA	OMIM:612933
HP:0003236	Elevated circulating creatine kinase concentration	2027	ENO3	OMIM:612932
HP:0003236	Elevated circulating creatine kinase concentration	5698	PSMB9	OMIM:620796
HP:0003236	Elevated circulating creatine kinase concentration	54344	DPM3	OMIM:612937
HP:0003236	Elevated circulating creatine kinase concentration	6904	TBCD	ORPHA:496641
HP:0003236	Elevated circulating creatine kinase concentration	6904	TBCD	OMIM:617193
HP:0003236	Elevated circulating creatine kinase concentration	427	ASAH1	OMIM:159950
HP:0003236	Elevated circulating creatine kinase concentration	8878	SQSTM1	OMIM:617158
HP:0003236	Elevated circulating creatine kinase concentration	513	ATP5F1D	OMIM:618120
HP:0003236	Elevated circulating creatine kinase concentration	7169	TPM2	OMIM:609285
HP:0003236	Elevated circulating creatine kinase concentration	7169	TPM2	ORPHA:171436
HP:0003236	Elevated circulating creatine kinase concentration	11080	DNAJB4	OMIM:620326
HP:0003236	Elevated circulating creatine kinase concentration	2010	EMD	OMIM:310300
HP:0003236	Elevated circulating creatine kinase concentration	2010	EMD	ORPHA:98863
HP:0003236	Elevated circulating creatine kinase concentration	203859	ANO5	ORPHA:206599
HP:0003236	Elevated circulating creatine kinase concentration	203859	ANO5	OMIM:611307
HP:0003236	Elevated circulating creatine kinase concentration	203859	ANO5	ORPHA:206549
HP:0003236	Elevated circulating creatine kinase concentration	203859	ANO5	OMIM:613319
HP:0003236	Elevated circulating creatine kinase concentration	6821	SUOX	OMIM:272300
HP:0003236	Elevated circulating creatine kinase concentration	112812	FDX2	OMIM:251900
HP:0003236	Elevated circulating creatine kinase concentration	191	AHCY	ORPHA:88618
HP:0003236	Elevated circulating creatine kinase concentration	6329	SCN4A	ORPHA:682
HP:0003236	Elevated circulating creatine kinase concentration	6329	SCN4A	OMIM:608390
HP:0003236	Elevated circulating creatine kinase concentration	84892	POMGNT2	OMIM:618135
HP:0003236	Elevated circulating creatine kinase concentration	7317	UBA1	OMIM:301830
HP:0003236	Elevated circulating creatine kinase concentration	58472	SQOR	OMIM:619221
HP:0003236	Elevated circulating creatine kinase concentration	2992	GYG1	OMIM:616199
HP:0003236	Elevated circulating creatine kinase concentration	390594	KBTBD13	OMIM:609273
HP:0003236	Elevated circulating creatine kinase concentration	3908	LAMA2	OMIM:618138
HP:0003236	Elevated circulating creatine kinase concentration	3908	LAMA2	OMIM:607855
HP:0003236	Elevated circulating creatine kinase concentration	8398	PLA2G6	OMIM:612953
HP:0003236	Elevated circulating creatine kinase concentration	9531	BAG3	OMIM:612954
HP:0003236	Elevated circulating creatine kinase concentration	8425	LTBP4	ORPHA:98896
HP:0003236	Elevated circulating creatine kinase concentration	65260	COA7	OMIM:618387
HP:0003236	Elevated circulating creatine kinase concentration	51241	COX16	OMIM:619355
HP:0003236	Elevated circulating creatine kinase concentration	37	ACADVL	OMIM:201475
HP:0003236	Elevated circulating creatine kinase concentration	37	ACADVL	ORPHA:26793
HP:0003236	Elevated circulating creatine kinase concentration	55697	VAC14	OMIM:617054
HP:0003236	Elevated circulating creatine kinase concentration	4567	MT-TL1	ORPHA:324525
HP:0003236	Elevated circulating creatine kinase concentration	100996717	NOTCH2NLC	OMIM:619473
HP:0003236	Elevated circulating creatine kinase concentration	788	SLC25A20	OMIM:212138
HP:0003236	Elevated circulating creatine kinase concentration	7504	XK	OMIM:300842
HP:0003236	Elevated circulating creatine kinase concentration	23230	VPS13A	OMIM:200150
HP:0003236	Elevated circulating creatine kinase concentration	23230	VPS13A	ORPHA:2388
HP:0003236	Elevated circulating creatine kinase concentration	6786	STIM1	OMIM:185070
HP:0003236	Elevated circulating creatine kinase concentration	6786	STIM1	OMIM:160565
HP:0003236	Elevated circulating creatine kinase concentration	2273	FHL1	OMIM:300718
HP:0003236	Elevated circulating creatine kinase concentration	2273	FHL1	OMIM:300717
HP:0003236	Elevated circulating creatine kinase concentration	2273	FHL1	OMIM:300696
HP:0003236	Elevated circulating creatine kinase concentration	2273	FHL1	OMIM:300695
HP:0003236	Elevated circulating creatine kinase concentration	2273	FHL1	ORPHA:98863
HP:0003236	Elevated circulating creatine kinase concentration	2273	FHL1	OMIM:300280
HP:0003236	Elevated circulating creatine kinase concentration	226	ALDOA	OMIM:611881
HP:0003236	Elevated circulating creatine kinase concentration	84033	OBSCN	OMIM:620235
HP:0003236	Elevated circulating creatine kinase concentration	3030	HADHA	OMIM:609015
HP:0003236	Elevated circulating creatine kinase concentration	1291	COL6A1	ORPHA:610
HP:0003236	Elevated circulating creatine kinase concentration	1291	COL6A1	OMIM:158810
HP:0003236	Elevated circulating creatine kinase concentration	1291	COL6A1	ORPHA:75840
HP:0003236	Elevated circulating creatine kinase concentration	26092	TOR1AIP1	OMIM:617072
HP:0003236	Elevated circulating creatine kinase concentration	1716	DGUOK	OMIM:617070
HP:0003236	Elevated circulating creatine kinase concentration	5236	PGM1	OMIM:614921
HP:0003236	Elevated circulating creatine kinase concentration	1282	COL4A1	OMIM:611773
HP:0003236	Elevated circulating creatine kinase concentration	1282	COL4A1	OMIM:175780
HP:0003236	Elevated circulating creatine kinase concentration	1073	CFL2	OMIM:610687
HP:0003236	Elevated circulating creatine kinase concentration	1073	CFL2	ORPHA:171436
HP:0003236	Elevated circulating creatine kinase concentration	1376	CPT2	ORPHA:228302
HP:0003236	Elevated circulating creatine kinase concentration	1376	CPT2	ORPHA:228305
HP:0003236	Elevated circulating creatine kinase concentration	1376	CPT2	ORPHA:228308
HP:0003236	Elevated circulating creatine kinase concentration	1376	CPT2	OMIM:600649
HP:0003236	Elevated circulating creatine kinase concentration	1376	CPT2	OMIM:608836
HP:0003236	Elevated circulating creatine kinase concentration	779	CACNA1S	OMIM:620246
HP:0003236	Elevated circulating creatine kinase concentration	2801	GOLGA2	OMIM:620240
HP:0003236	Elevated circulating creatine kinase concentration	9054	NFS1	OMIM:619386
HP:0003236	Elevated circulating creatine kinase concentration	125170	MIEF2	OMIM:619024
HP:0003236	Elevated circulating creatine kinase concentration	132001	TAMM41	OMIM:620139
HP:0003236	Elevated circulating creatine kinase concentration	90523	MLIP	OMIM:620138
HP:0003236	Elevated circulating creatine kinase concentration	23224	SYNE2	OMIM:612999
HP:0003236	Elevated circulating creatine kinase concentration	23224	SYNE2	ORPHA:98853
HP:0003236	Elevated circulating creatine kinase concentration	23345	SYNE1	OMIM:612998
HP:0003236	Elevated circulating creatine kinase concentration	23345	SYNE1	ORPHA:98853
HP:0003236	Elevated circulating creatine kinase concentration	3156	HMGCR	OMIM:620375
HP:0003236	Elevated circulating creatine kinase concentration	9987	HNRNPDL	OMIM:609115
HP:0003236	Elevated circulating creatine kinase concentration	6584	SLC22A5	OMIM:212140
HP:0003236	Elevated circulating creatine kinase concentration	64374	SIL1	OMIM:248800
HP:0003236	Elevated circulating creatine kinase concentration	3691	ITGB4	ORPHA:158684
HP:0003236	Elevated circulating creatine kinase concentration	80308	FLAD1	OMIM:255100
HP:0003236	Elevated circulating creatine kinase concentration	9782	MATR3	OMIM:606070
HP:0003236	Elevated circulating creatine kinase concentration	7138	TNNT1	OMIM:620386
HP:0003236	Elevated circulating creatine kinase concentration	6840	SVIL	OMIM:619040
HP:0003236	Elevated circulating creatine kinase concentration	4703	NEB	ORPHA:171436
HP:0003236	Elevated circulating creatine kinase concentration	10324	KLHL41	ORPHA:171436
HP:0003236	Elevated circulating creatine kinase concentration	56203	LMOD3	ORPHA:171436
HP:0003236	Elevated circulating creatine kinase concentration	23600	AMACR	ORPHA:79095
HP:0003236	Elevated circulating creatine kinase concentration	11155	LDB3	OMIM:609452
HP:0003236	Elevated circulating creatine kinase concentration	2673	GFPT1	ORPHA:353327
HP:0003236	Elevated circulating creatine kinase concentration	1798	DPAGT1	ORPHA:353327
HP:0003236	Elevated circulating creatine kinase concentration	85365	ALG2	ORPHA:353327
HP:0003236	Elevated circulating creatine kinase concentration	199857	ALG14	ORPHA:353327
HP:0003236	Elevated circulating creatine kinase concentration	3736	KCNA1	ORPHA:972
HP:0003236	Elevated circulating creatine kinase concentration	3736	KCNA1	OMIM:160120
HP:0003236	Elevated circulating creatine kinase concentration	729359	PLIN4	OMIM:601846
HP:0003236	Elevated circulating creatine kinase concentration	116228	COX20	OMIM:619054
HP:0003236	Elevated circulating creatine kinase concentration	100131801	PET100	OMIM:619055
HP:0003236	Elevated circulating creatine kinase concentration	55858	TMEM165	OMIM:614727
HP:0003236	Elevated circulating creatine kinase concentration	29967	LRP12	OMIM:164310
HP:0003236	Elevated circulating creatine kinase concentration	9570	GOSR2	OMIM:620166
HP:0003236	Elevated circulating creatine kinase concentration	9570	GOSR2	OMIM:614018
HP:0003236	Elevated circulating creatine kinase concentration	4151	MB	OMIM:620286
HP:0003236	Elevated circulating creatine kinase concentration	8557	TCAP	OMIM:601954
HP:0003236	Elevated circulating creatine kinase concentration	7156	TOP3A	OMIM:618098
HP:0003236	Elevated circulating creatine kinase concentration	9131	AIFM1	OMIM:310490
HP:0003236	Elevated circulating creatine kinase concentration	4598	MVK	OMIM:610377
HP:0003236	Elevated circulating creatine kinase concentration	374393	FAM111B	OMIM:615704
HP:0003236	Elevated circulating creatine kinase concentration	5255	PHKA1	ORPHA:715
HP:0003236	Elevated circulating creatine kinase concentration	5255	PHKA1	OMIM:300559
HP:0003236	Elevated circulating creatine kinase concentration	5260	PHKG1	ORPHA:715
HP:0003236	Elevated circulating creatine kinase concentration	4952	OCRL	OMIM:300555
HP:0003236	Elevated circulating creatine kinase concentration	4952	OCRL	OMIM:309000
HP:0003236	Elevated circulating creatine kinase concentration	3991	LIPE	ORPHA:435660
HP:0003236	Elevated circulating creatine kinase concentration	3991	LIPE	OMIM:615980
HP:0003236	Elevated circulating creatine kinase concentration	23533	PIK3R5	ORPHA:64753
HP:0003236	Elevated circulating creatine kinase concentration	23064	SETX	ORPHA:64753
HP:0003236	Elevated circulating creatine kinase concentration	23064	SETX	OMIM:606002
HP:0003236	Elevated circulating creatine kinase concentration	4744	NEFH	OMIM:616924
HP:0003236	Elevated circulating creatine kinase concentration	6804	STX1A	ORPHA:904
HP:0003236	Elevated circulating creatine kinase concentration	7461	CLIP2	ORPHA:904
HP:0003236	Elevated circulating creatine kinase concentration	84277	DNAJC30	ORPHA:904
HP:0003236	Elevated circulating creatine kinase concentration	8468	FKBP6	ORPHA:904
HP:0003236	Elevated circulating creatine kinase concentration	5982	RFC2	ORPHA:904
HP:0003236	Elevated circulating creatine kinase concentration	2969	GTF2I	ORPHA:904
HP:0003236	Elevated circulating creatine kinase concentration	3984	LIMK1	ORPHA:904
HP:0003236	Elevated circulating creatine kinase concentration	9569	GTF2IRD1	ORPHA:904
HP:0003236	Elevated circulating creatine kinase concentration	155382	VPS37D	ORPHA:904
HP:0003236	Elevated circulating creatine kinase concentration	155368	METTL27	ORPHA:904
HP:0003236	Elevated circulating creatine kinase concentration	114049	BUD23	ORPHA:904
HP:0003236	Elevated circulating creatine kinase concentration	7458	EIF4H	ORPHA:904
HP:0003236	Elevated circulating creatine kinase concentration	84163	GTF2IRD2	ORPHA:904
HP:0003236	Elevated circulating creatine kinase concentration	26608	TBL2	ORPHA:904
HP:0003236	Elevated circulating creatine kinase concentration	653361	NCF1	ORPHA:904
HP:0003236	Elevated circulating creatine kinase concentration	135886	TMEM270	ORPHA:904
HP:0003236	Elevated circulating creatine kinase concentration	9031	BAZ1B	ORPHA:904
HP:0003236	Elevated circulating creatine kinase concentration	2006	ELN	ORPHA:904
HP:0003236	Elevated circulating creatine kinase concentration	80025	PANK2	OMIM:234200
HP:0003236	Elevated circulating creatine kinase concentration	84992	PIGY	OMIM:616809
HP:0003236	Elevated circulating creatine kinase concentration	23175	LPIN1	OMIM:268200
HP:0003236	Elevated circulating creatine kinase concentration	64419	MTMR14	OMIM:160150
HP:0003236	Elevated circulating creatine kinase concentration	6566	SLC16A1	OMIM:245340
HP:0003236	Elevated circulating creatine kinase concentration	2548	GAA	ORPHA:308552
HP:0003236	Elevated circulating creatine kinase concentration	2548	GAA	OMIM:232300
HP:0003236	Elevated circulating creatine kinase concentration	1299	COL9A3	OMIM:600969
HP:0003236	Elevated circulating creatine kinase concentration	5165	PDK3	ORPHA:352675
HP:0003236	Elevated circulating creatine kinase concentration	11149	POPDC1	OMIM:616812
HP:0003236	Elevated circulating creatine kinase concentration	3178	HNRNPA1	ORPHA:52430
HP:0003236	Elevated circulating creatine kinase concentration	3178	HNRNPA1	OMIM:615424
HP:0003236	Elevated circulating creatine kinase concentration	3181	HNRNPA2B1	ORPHA:52430
HP:0003236	Elevated circulating creatine kinase concentration	3181	HNRNPA2B1	OMIM:615422
HP:0003236	Elevated circulating creatine kinase concentration	34	ACADM	ORPHA:42
HP:0003236	Elevated circulating creatine kinase concentration	1374	CPT1A	OMIM:255120
HP:0003236	Elevated circulating creatine kinase concentration	122622	ADSS1	ORPHA:482601
HP:0003236	Elevated circulating creatine kinase concentration	147007	TMEM199	OMIM:616829
HP:0003236	Elevated circulating creatine kinase concentration	84317	CCDC115	OMIM:616828
HP:0003236	Elevated circulating creatine kinase concentration	2318	FLNC	OMIM:609524
HP:0003236	Elevated circulating creatine kinase concentration	55679	LIMS2	OMIM:616827
HP:0003236	Elevated circulating creatine kinase concentration	23479	ISCU	OMIM:255125
HP:0003236	Elevated circulating creatine kinase concentration	3679	ITGA7	OMIM:613204
HP:0003236	Elevated circulating creatine kinase concentration	284119	CAVIN1	OMIM:613327
HP:0003236	Elevated circulating creatine kinase concentration	79188	TMEM43	ORPHA:98853
HP:0003236	Elevated circulating creatine kinase concentration	132	ADK	OMIM:614300
HP:0003236	Elevated circulating creatine kinase concentration	79650	USB1	OMIM:604173
HP:0003236	Elevated circulating creatine kinase concentration	55593	OTUD5	OMIM:301056
HP:0003236	Elevated circulating creatine kinase concentration	84876	ORAI1	OMIM:615883
HP:0003236	Elevated circulating creatine kinase concentration	27235	COQ2	OMIM:607426
HP:0003236	Elevated circulating creatine kinase concentration	55033	FKBP14	ORPHA:300179
HP:0003236	Elevated circulating creatine kinase concentration	10616	RBCK1	OMIM:615895
HP:0003236	Elevated circulating creatine kinase concentration	708	C1QBP	OMIM:617713
HP:0003236	Elevated circulating creatine kinase concentration	5257	PHKB	ORPHA:79240
HP:0003236	Elevated circulating creatine kinase concentration	128989	TANGO2	ORPHA:480864
HP:0003236	Elevated circulating creatine kinase concentration	128989	TANGO2	OMIM:616878
HP:0003236	Elevated circulating creatine kinase concentration	84342	COG8	OMIM:611182
HP:0003236	Elevated circulating creatine kinase concentration	57511	COG6	OMIM:614576
HP:0003236	Elevated circulating creatine kinase concentration	64423	INF2	OMIM:614455
HP:0003236	Elevated circulating creatine kinase concentration	760	CA2	ORPHA:2785
HP:0003236	Elevated circulating creatine kinase concentration	10755	GIPC1	OMIM:618940
HP:0003236	Elevated circulating creatine kinase concentration	10367	MICU1	OMIM:615673
HP:0003236	Elevated circulating creatine kinase concentration	81689	ISCA1	OMIM:617613
HP:0003236	Elevated circulating creatine kinase concentration	55278	QRSL1	OMIM:618835
HP:0003236	Elevated circulating creatine kinase concentration	5188	GATB	OMIM:618838
HP:0003236	Elevated circulating creatine kinase concentration	283459	GATC	OMIM:618839
HP:0003236	Elevated circulating creatine kinase concentration	54888	NSUN2	OMIM:611091
HP:0003236	Elevated circulating creatine kinase concentration	3920	LAMP2	OMIM:300257
HP:0003236	Elevated circulating creatine kinase concentration	178	AGL	OMIM:232400
HP:0003236	Elevated circulating creatine kinase concentration	1807	DPYS	OMIM:222748
HP:0003236	Elevated circulating creatine kinase concentration	29928	TIMM22	OMIM:618851
HP:0003236	Elevated circulating creatine kinase concentration	4747	NEFL	OMIM:617882
HP:0003236	Elevated circulating creatine kinase concentration	9907	AP5Z1	ORPHA:306511
HP:0003236	Elevated circulating creatine kinase concentration	51763	INPP5K	OMIM:617404
HP:0003236	Elevated circulating creatine kinase concentration	8449	DHX16	OMIM:618733
HP:0003236	Elevated circulating creatine kinase concentration	367	AR	OMIM:313200
HP:0003236	Elevated circulating creatine kinase concentration	284217	LAMA1	ORPHA:370022
HP:0003236	Elevated circulating creatine kinase concentration	7072	TIA1	OMIM:604454
HP:0003236	Elevated circulating creatine kinase concentration	7072	TIA1	ORPHA:603
HP:0003236	Elevated circulating creatine kinase concentration	79784	MYH14	ORPHA:397744
HP:0003236	Elevated circulating creatine kinase concentration	79784	MYH14	OMIM:614369
HP:0003236	Elevated circulating creatine kinase concentration	100134444	KCNJ18	ORPHA:79102
HP:0003236	Elevated circulating creatine kinase concentration	2556	GABRA3	ORPHA:79102
HP:0003236	Elevated circulating creatine kinase concentration	274	BIN1	ORPHA:169189
HP:0003236	Elevated circulating creatine kinase concentration	4618	MYF6	ORPHA:169189
HP:0003236	Elevated circulating creatine kinase concentration	4568	MT-TL2	ORPHA:663
HP:0003236	Elevated circulating creatine kinase concentration	4570	MT-TN	ORPHA:663
HP:0003236	Elevated circulating creatine kinase concentration	4574	MT-TS1	ORPHA:663
HP:0003236	Elevated circulating creatine kinase concentration	54870	QRICH1	OMIM:617982
HP:0003236	Elevated circulating creatine kinase concentration	10730	YME1L1	OMIM:617302
HP:0003236	Elevated circulating creatine kinase concentration	3033	HADH	ORPHA:71212
HP:0003236	Elevated circulating creatine kinase concentration	10073	SNUPN	OMIM:620793
HP:0003236	Elevated circulating creatine kinase concentration	4358	MPV17	OMIM:618400
HP:0003236	Elevated circulating creatine kinase concentration	57449	PLEKHG5	OMIM:615376
HP:0003236	Elevated circulating creatine kinase concentration	84665	MYPN	ORPHA:171439
HP:0003236	Elevated circulating creatine kinase concentration	7170	TPM3	ORPHA:171439
HP:0003236	Elevated circulating creatine kinase concentration	55681	SCYL2	ORPHA:1143
HP:0003236	Elevated circulating creatine kinase concentration	84570	COL25A1	ORPHA:1143
HP:0003236	Elevated circulating creatine kinase concentration	57222	ERGIC1	ORPHA:1143
HP:0003236	Elevated circulating creatine kinase concentration	93627	TBCK	OMIM:616900
HP:0003236	Elevated circulating creatine kinase concentration	5190	PEX6	ORPHA:95433
HP:0003236	Elevated circulating creatine kinase concentration	10008	KCNE3	ORPHA:681
HP:0003236	Elevated circulating creatine kinase concentration	4556	MT-TE	ORPHA:254864
HP:0003236	Elevated circulating creatine kinase concentration	55687	TRMU	ORPHA:254864
HP:0003236	Elevated circulating creatine kinase concentration	27145	FILIP1	OMIM:620775
HP:0003236	Elevated circulating creatine kinase concentration	9325	TRIP4	ORPHA:486815
HP:0003236	Elevated circulating creatine kinase concentration	285489	DOK7	OMIM:254300
HP:0003236	Elevated circulating creatine kinase concentration	270	AMPD1	ORPHA:45
HP:0003236	Elevated circulating creatine kinase concentration	272	AMPD3	ORPHA:45
HP:0003236	Elevated circulating creatine kinase concentration	28976	ACAD9	ORPHA:99901
HP:0003236	Elevated circulating creatine kinase concentration	64208	POPDC3	OMIM:618848
HP:0003236	Elevated circulating creatine kinase concentration	4512	MT-CO1	ORPHA:99845
HP:0003236	Elevated circulating creatine kinase concentration	4514	MT-CO3	ORPHA:99845
HP:0002907	Microscopic hematuria	1497	CTNS	OMIM:219800
HP:0002907	Microscopic hematuria	1497	CTNS	ORPHA:411634
HP:0002907	Microscopic hematuria	9663	LPIN2	ORPHA:77297
HP:0002907	Microscopic hematuria	5076	PAX2	ORPHA:97362
HP:0002907	Microscopic hematuria	5087	PBX1	ORPHA:97362
HP:0002907	Microscopic hematuria	9722	NOS1AP	OMIM:619155
HP:0002907	Microscopic hematuria	8029	CUBN	OMIM:261100
HP:0002907	Microscopic hematuria	4010	LMX1B	ORPHA:2613
HP:0002907	Microscopic hematuria	64423	INF2	OMIM:613237
HP:0002907	Microscopic hematuria	84823	LMNB2	ORPHA:79087
HP:0002907	Microscopic hematuria	1285	COL4A3	OMIM:104200
HP:0002907	Microscopic hematuria	1285	COL4A3	OMIM:620320
HP:0002907	Microscopic hematuria	1285	COL4A3	OMIM:620536
HP:0002907	Microscopic hematuria	1184	CLCN5	OMIM:310468
HP:0002907	Microscopic hematuria	1184	CLCN5	OMIM:308990
HP:0002907	Microscopic hematuria	1184	CLCN5	OMIM:300009
HP:0002907	Microscopic hematuria	2335	FN1	ORPHA:84090
HP:0002907	Microscopic hematuria	2335	FN1	OMIM:601894
HP:0002907	Microscopic hematuria	2147	F2	ORPHA:325
HP:0002907	Microscopic hematuria	81494	CFHR5	OMIM:614809
HP:0002907	Microscopic hematuria	23630	KCNE5	ORPHA:86818
HP:0002907	Microscopic hematuria	2182	ACSL4	ORPHA:86818
HP:0002907	Microscopic hematuria	9949	AMMECR1	ORPHA:86818
HP:0002907	Microscopic hematuria	79902	NUP85	OMIM:618176
HP:0002907	Microscopic hematuria	50485	SMARCAL1	ORPHA:1830
HP:0002907	Microscopic hematuria	10686	CLDN16	OMIM:248250
HP:0002907	Microscopic hematuria	335	APOA1	OMIM:620657
HP:0002907	Microscopic hematuria	2542	SLC37A4	OMIM:619525
HP:0002907	Microscopic hematuria	11093	ADAMTS13	OMIM:274150
HP:0002907	Microscopic hematuria	1287	COL4A5	OMIM:301050
HP:0002907	Microscopic hematuria	5978	REST	ORPHA:654
HP:0002907	Microscopic hematuria	129563	DIS3L2	ORPHA:654
HP:0002907	Microscopic hematuria	675	BRCA2	ORPHA:654
HP:0002907	Microscopic hematuria	9319	TRIP13	ORPHA:654
HP:0002907	Microscopic hematuria	7490	WT1	ORPHA:654
HP:0002907	Microscopic hematuria	10155	TRIM28	ORPHA:654
HP:0002907	Microscopic hematuria	11281	POU6F2	ORPHA:654
HP:0002907	Microscopic hematuria	2719	GPC3	ORPHA:654
HP:0002907	Microscopic hematuria	283120	H19	ORPHA:654
HP:0002908	Conjugated hyperbilirubinemia	1244	ABCC2	ORPHA:234
HP:0002908	Conjugated hyperbilirubinemia	1244	ABCC2	OMIM:237500
HP:0002908	Conjugated hyperbilirubinemia	80270	HSD3B7	OMIM:607765
HP:0002908	Conjugated hyperbilirubinemia	3376	IARS1	OMIM:617093
HP:0002908	Conjugated hyperbilirubinemia	8647	ABCB11	OMIM:601847
HP:0002908	Conjugated hyperbilirubinemia	8647	ABCB11	OMIM:605479
HP:0002908	Conjugated hyperbilirubinemia	79989	IFT56	OMIM:619534
HP:0002908	Conjugated hyperbilirubinemia	51218	GLRX5	OMIM:616860
HP:0002908	Conjugated hyperbilirubinemia	2629	GBA1	ORPHA:85212
HP:0002908	Conjugated hyperbilirubinemia	26503	SLC17A5	OMIM:269920
HP:0002908	Conjugated hyperbilirubinemia	570	BAAT	OMIM:619232
HP:0002908	Conjugated hyperbilirubinemia	7019	TFAM	OMIM:617156
HP:0002908	Conjugated hyperbilirubinemia	3643	INSR	OMIM:246200
HP:0002908	Conjugated hyperbilirubinemia	11232	POLG2	OMIM:618528
HP:0002908	Conjugated hyperbilirubinemia	4358	MPV17	OMIM:256810
HP:0002908	Conjugated hyperbilirubinemia	5828	PEX2	OMIM:614866
HP:0002908	Conjugated hyperbilirubinemia	6091	ROBO1	OMIM:620305
HP:0002908	Conjugated hyperbilirubinemia	5205	ATP8B1	OMIM:211600
HP:0002908	Conjugated hyperbilirubinemia	5205	ATP8B1	OMIM:243300
HP:0002908	Conjugated hyperbilirubinemia	5195	PEX14	OMIM:614887
HP:0002908	Conjugated hyperbilirubinemia	6513	SLC2A1	ORPHA:168577
HP:0002908	Conjugated hyperbilirubinemia	6513	SLC2A1	OMIM:608885
HP:0002908	Conjugated hyperbilirubinemia	28234	SLCO1B3	OMIM:237450
HP:0002908	Conjugated hyperbilirubinemia	28234	SLCO1B3	ORPHA:3111
HP:0002908	Conjugated hyperbilirubinemia	10599	SLCO1B1	OMIM:237450
HP:0002908	Conjugated hyperbilirubinemia	10599	SLCO1B1	ORPHA:3111
HP:0002908	Conjugated hyperbilirubinemia	5314	PKHD1	ORPHA:53035
HP:0002908	Conjugated hyperbilirubinemia	6718	AKR1D1	ORPHA:79303
HP:0002908	Conjugated hyperbilirubinemia	5009	OTC	ORPHA:664
HP:0002908	Conjugated hyperbilirubinemia	10165	SLC25A13	OMIM:605814
HP:0002908	Conjugated hyperbilirubinemia	197131	UBR1	OMIM:243800
HP:0002908	Conjugated hyperbilirubinemia	3594	IL12RB1	ORPHA:186
HP:0002908	Conjugated hyperbilirubinemia	23534	TNPO3	ORPHA:186
HP:0002908	Conjugated hyperbilirubinemia	3592	IL12A	ORPHA:186
HP:0002908	Conjugated hyperbilirubinemia	6689	SPIB	ORPHA:186
HP:0002908	Conjugated hyperbilirubinemia	5450	POU2AF1	ORPHA:186
HP:0002908	Conjugated hyperbilirubinemia	9966	TNFSF15	ORPHA:186
HP:0002908	Conjugated hyperbilirubinemia	79258	MMEL1	ORPHA:186
HP:0002908	Conjugated hyperbilirubinemia	3663	IRF5	ORPHA:186
HP:0002908	Conjugated hyperbilirubinemia	26276	VPS33B	OMIM:208085
HP:0002908	Conjugated hyperbilirubinemia	26276	VPS33B	OMIM:620010
HP:0002908	Conjugated hyperbilirubinemia	200931	SLC51A	OMIM:619484
HP:0002908	Conjugated hyperbilirubinemia	113220	KIF12	OMIM:619662
HP:0002908	Conjugated hyperbilirubinemia	9971	NR1H4	OMIM:617049
HP:0002908	Conjugated hyperbilirubinemia	63894	VIPAS39	OMIM:613404
HP:0002908	Conjugated hyperbilirubinemia	4645	MYO5B	OMIM:619868
HP:0002908	Conjugated hyperbilirubinemia	4067	LYN	OMIM:620376
HP:0002909	Generalized aminoaciduria	2184	FAH	ORPHA:882
HP:0002909	Generalized aminoaciduria	1497	CTNS	OMIM:219800
HP:0002909	Generalized aminoaciduria	6514	SLC2A2	OMIM:227810
HP:0002909	Generalized aminoaciduria	6514	SLC2A2	ORPHA:2088
HP:0002909	Generalized aminoaciduria	1594	CYP27B1	OMIM:264700
HP:0002909	Generalized aminoaciduria	1594	CYP27B1	ORPHA:289157
HP:0002909	Generalized aminoaciduria	120227	CYP2R1	ORPHA:289157
HP:0002909	Generalized aminoaciduria	6569	SLC34A1	OMIM:613388
HP:0002909	Generalized aminoaciduria	6569	SLC34A1	ORPHA:3337
HP:0002909	Generalized aminoaciduria	55768	NGLY1	ORPHA:404454
HP:0002909	Generalized aminoaciduria	2110	ETFDH	OMIM:231680
HP:0002909	Generalized aminoaciduria	2108	ETFA	OMIM:231680
HP:0002909	Generalized aminoaciduria	2109	ETFB	OMIM:231680
HP:0002909	Generalized aminoaciduria	1962	EHHADH	ORPHA:3337
HP:0002909	Generalized aminoaciduria	2628	GATM	ORPHA:3337
HP:0002909	Generalized aminoaciduria	137682	NDUFAF6	ORPHA:3337
HP:0002909	Generalized aminoaciduria	1716	DGUOK	OMIM:251880
HP:0002910	Elevated circulating hepatic transaminase concentration	1374	CPT1A	ORPHA:156
HP:0002910	Elevated circulating hepatic transaminase concentration	1374	CPT1A	OMIM:255120
HP:0002910	Elevated circulating hepatic transaminase concentration	6584	SLC22A5	ORPHA:158
HP:0002910	Elevated circulating hepatic transaminase concentration	875	CBS	ORPHA:394
HP:0002910	Elevated circulating hepatic transaminase concentration	26235	FBXL4	OMIM:615471
HP:0002910	Elevated circulating hepatic transaminase concentration	229	ALDOB	OMIM:229600
HP:0002910	Elevated circulating hepatic transaminase concentration	55532	SLC30A10	ORPHA:309854
HP:0002910	Elevated circulating hepatic transaminase concentration	55532	SLC30A10	OMIM:613280
HP:0002910	Elevated circulating hepatic transaminase concentration	1161	ERCC8	ORPHA:90324
HP:0002910	Elevated circulating hepatic transaminase concentration	1161	ERCC8	ORPHA:90321
HP:0002910	Elevated circulating hepatic transaminase concentration	2074	ERCC6	ORPHA:90324
HP:0002910	Elevated circulating hepatic transaminase concentration	2074	ERCC6	ORPHA:90321
HP:0002910	Elevated circulating hepatic transaminase concentration	60684	TRAPPC11	OMIM:615356
HP:0002910	Elevated circulating hepatic transaminase concentration	60684	TRAPPC11	ORPHA:369840
HP:0002910	Elevated circulating hepatic transaminase concentration	7355	SLC35A2	ORPHA:356961
HP:0002910	Elevated circulating hepatic transaminase concentration	57539	WDR35	OMIM:613610
HP:0002910	Elevated circulating hepatic transaminase concentration	2542	SLC37A4	OMIM:232220
HP:0002910	Elevated circulating hepatic transaminase concentration	2542	SLC37A4	OMIM:619525
HP:0002910	Elevated circulating hepatic transaminase concentration	80270	HSD3B7	ORPHA:79301
HP:0002910	Elevated circulating hepatic transaminase concentration	80270	HSD3B7	OMIM:607765
HP:0002910	Elevated circulating hepatic transaminase concentration	2072	ERCC4	ORPHA:90321
HP:0002910	Elevated circulating hepatic transaminase concentration	2072	ERCC4	OMIM:610965
HP:0002910	Elevated circulating hepatic transaminase concentration	6718	AKR1D1	ORPHA:79303
HP:0002910	Elevated circulating hepatic transaminase concentration	6718	AKR1D1	OMIM:235555
HP:0002910	Elevated circulating hepatic transaminase concentration	79848	CSPP1	ORPHA:397715
HP:0002910	Elevated circulating hepatic transaminase concentration	9786	KIAA0586	ORPHA:397715
HP:0002910	Elevated circulating hepatic transaminase concentration	6729	SRP54	OMIM:618752
HP:0002910	Elevated circulating hepatic transaminase concentration	6729	SRP54	OMIM:260400
HP:0002910	Elevated circulating hepatic transaminase concentration	162	AP1B1	OMIM:242150
HP:0002910	Elevated circulating hepatic transaminase concentration	1376	CPT2	OMIM:600649
HP:0002910	Elevated circulating hepatic transaminase concentration	1376	CPT2	OMIM:608836
HP:0002910	Elevated circulating hepatic transaminase concentration	1376	CPT2	ORPHA:228305
HP:0002910	Elevated circulating hepatic transaminase concentration	79947	DHDDS	OMIM:613861
HP:0002910	Elevated circulating hepatic transaminase concentration	23600	AMACR	ORPHA:79095
HP:0002910	Elevated circulating hepatic transaminase concentration	23600	AMACR	OMIM:214950
HP:0002910	Elevated circulating hepatic transaminase concentration	9200	HACD1	OMIM:619967
HP:0002910	Elevated circulating hepatic transaminase concentration	55768	NGLY1	ORPHA:404454
HP:0002910	Elevated circulating hepatic transaminase concentration	55768	NGLY1	OMIM:615273
HP:0002910	Elevated circulating hepatic transaminase concentration	134218	DNAJC21	ORPHA:811
HP:0002910	Elevated circulating hepatic transaminase concentration	134218	DNAJC21	OMIM:260400
HP:0002910	Elevated circulating hepatic transaminase concentration	79631	EFL1	ORPHA:811
HP:0002910	Elevated circulating hepatic transaminase concentration	51119	SBDS	ORPHA:811
HP:0002910	Elevated circulating hepatic transaminase concentration	51119	SBDS	OMIM:260400
HP:0002910	Elevated circulating hepatic transaminase concentration	54658	UGT1A1	OMIM:143500
HP:0002910	Elevated circulating hepatic transaminase concentration	54658	UGT1A1	OMIM:606785
HP:0002910	Elevated circulating hepatic transaminase concentration	54658	UGT1A1	OMIM:218800
HP:0002910	Elevated circulating hepatic transaminase concentration	5428	POLG	ORPHA:298
HP:0002910	Elevated circulating hepatic transaminase concentration	5428	POLG	OMIM:203700
HP:0002910	Elevated circulating hepatic transaminase concentration	5428	POLG	ORPHA:254892
HP:0002910	Elevated circulating hepatic transaminase concentration	1890	TYMP	ORPHA:298
HP:0002910	Elevated circulating hepatic transaminase concentration	3980	LIG3	ORPHA:298
HP:0002910	Elevated circulating hepatic transaminase concentration	50484	RRM2B	ORPHA:298
HP:0002910	Elevated circulating hepatic transaminase concentration	50484	RRM2B	ORPHA:254892
HP:0002910	Elevated circulating hepatic transaminase concentration	25839	COG4	ORPHA:263501
HP:0002910	Elevated circulating hepatic transaminase concentration	25839	COG4	OMIM:613489
HP:0002910	Elevated circulating hepatic transaminase concentration	1738	DLD	ORPHA:2394
HP:0002910	Elevated circulating hepatic transaminase concentration	1738	DLD	OMIM:246900
HP:0002910	Elevated circulating hepatic transaminase concentration	55687	TRMU	OMIM:613070
HP:0002910	Elevated circulating hepatic transaminase concentration	60561	RINT1	OMIM:618641
HP:0002910	Elevated circulating hepatic transaminase concentration	4358	MPV17	OMIM:618400
HP:0002910	Elevated circulating hepatic transaminase concentration	2859	GPR35	ORPHA:171
HP:0002910	Elevated circulating hepatic transaminase concentration	10507	SEMA4D	ORPHA:171
HP:0002910	Elevated circulating hepatic transaminase concentration	4485	MST1	ORPHA:171
HP:0002910	Elevated circulating hepatic transaminase concentration	6925	TCF4	ORPHA:171
HP:0002910	Elevated circulating hepatic transaminase concentration	5896	RAG1	ORPHA:331206
HP:0002910	Elevated circulating hepatic transaminase concentration	5897	RAG2	ORPHA:331206
HP:0002910	Elevated circulating hepatic transaminase concentration	2538	G6PC1	OMIM:232200
HP:0002910	Elevated circulating hepatic transaminase concentration	22897	CEP164	OMIM:614845
HP:0002910	Elevated circulating hepatic transaminase concentration	3117	HLA-DQA1	OMIM:212750
HP:0002910	Elevated circulating hepatic transaminase concentration	3119	HLA-DQB1	OMIM:212750
HP:0002910	Elevated circulating hepatic transaminase concentration	7840	ALMS1	OMIM:203800
HP:0002910	Elevated circulating hepatic transaminase concentration	7840	ALMS1	ORPHA:64
HP:0002910	Elevated circulating hepatic transaminase concentration	1716	DGUOK	OMIM:251880
HP:0002910	Elevated circulating hepatic transaminase concentration	1716	DGUOK	OMIM:617068
HP:0002910	Elevated circulating hepatic transaminase concentration	10555	AGPAT2	OMIM:608594
HP:0002910	Elevated circulating hepatic transaminase concentration	1130	LYST	ORPHA:167
HP:0002910	Elevated circulating hepatic transaminase concentration	9377	COX5A	OMIM:619064
HP:0002910	Elevated circulating hepatic transaminase concentration	5424	POLD1	OMIM:615381
HP:0002910	Elevated circulating hepatic transaminase concentration	23166	STAB1	OMIM:620729
HP:0002910	Elevated circulating hepatic transaminase concentration	11232	POLG2	OMIM:610131
HP:0002910	Elevated circulating hepatic transaminase concentration	11232	POLG2	ORPHA:254892
HP:0002910	Elevated circulating hepatic transaminase concentration	9131	AIFM1	OMIM:310490
HP:0002910	Elevated circulating hepatic transaminase concentration	84342	COG8	ORPHA:95428
HP:0002910	Elevated circulating hepatic transaminase concentration	84342	COG8	OMIM:611182
HP:0002910	Elevated circulating hepatic transaminase concentration	4598	MVK	OMIM:610377
HP:0002910	Elevated circulating hepatic transaminase concentration	51021	MRPS16	OMIM:610498
HP:0002910	Elevated circulating hepatic transaminase concentration	63894	VIPAS39	OMIM:613404
HP:0002910	Elevated circulating hepatic transaminase concentration	28976	ACAD9	ORPHA:99901
HP:0002910	Elevated circulating hepatic transaminase concentration	28976	ACAD9	OMIM:611126
HP:0002910	Elevated circulating hepatic transaminase concentration	788	SLC25A20	ORPHA:159
HP:0002910	Elevated circulating hepatic transaminase concentration	788	SLC25A20	OMIM:212138
HP:0002910	Elevated circulating hepatic transaminase concentration	5373	PMM2	OMIM:212065
HP:0002910	Elevated circulating hepatic transaminase concentration	5373	PMM2	ORPHA:79318
HP:0002910	Elevated circulating hepatic transaminase concentration	1798	DPAGT1	ORPHA:86309
HP:0002910	Elevated circulating hepatic transaminase concentration	1798	DPAGT1	OMIM:608093
HP:0002910	Elevated circulating hepatic transaminase concentration	9056	SLC7A7	ORPHA:470
HP:0002910	Elevated circulating hepatic transaminase concentration	92482	BBIP1	ORPHA:110
HP:0002910	Elevated circulating hepatic transaminase concentration	80184	CEP290	ORPHA:110
HP:0002910	Elevated circulating hepatic transaminase concentration	11020	IFT27	ORPHA:110
HP:0002910	Elevated circulating hepatic transaminase concentration	582	BBS1	ORPHA:110
HP:0002910	Elevated circulating hepatic transaminase concentration	49855	SCAPER	ORPHA:110
HP:0002910	Elevated circulating hepatic transaminase concentration	4867	NPHP1	ORPHA:110
HP:0002910	Elevated circulating hepatic transaminase concentration	51057	WDPCP	ORPHA:110
HP:0002910	Elevated circulating hepatic transaminase concentration	132320	SCLT1	ORPHA:110
HP:0002910	Elevated circulating hepatic transaminase concentration	27241	BBS9	ORPHA:110
HP:0002910	Elevated circulating hepatic transaminase concentration	84984	CEP19	ORPHA:110
HP:0002910	Elevated circulating hepatic transaminase concentration	22954	TRIM32	ORPHA:110
HP:0002910	Elevated circulating hepatic transaminase concentration	54903	MKS1	ORPHA:110
HP:0002910	Elevated circulating hepatic transaminase concentration	79738	BBS10	ORPHA:110
HP:0002910	Elevated circulating hepatic transaminase concentration	123016	TTC8	ORPHA:110
HP:0002910	Elevated circulating hepatic transaminase concentration	26160	IFT172	ORPHA:110
HP:0002910	Elevated circulating hepatic transaminase concentration	26160	IFT172	OMIM:619471
HP:0002910	Elevated circulating hepatic transaminase concentration	583	BBS2	ORPHA:110
HP:0002910	Elevated circulating hepatic transaminase concentration	585	BBS4	ORPHA:110
HP:0002910	Elevated circulating hepatic transaminase concentration	8195	MKKS	ORPHA:110
HP:0002910	Elevated circulating hepatic transaminase concentration	54585	LZTFL1	ORPHA:110
HP:0002910	Elevated circulating hepatic transaminase concentration	55212	BBS7	ORPHA:110
HP:0002910	Elevated circulating hepatic transaminase concentration	166379	BBS12	ORPHA:110
HP:0002910	Elevated circulating hepatic transaminase concentration	10806	SDCCAG8	ORPHA:110
HP:0002910	Elevated circulating hepatic transaminase concentration	157657	CFAP418	ORPHA:110
HP:0002910	Elevated circulating hepatic transaminase concentration	157657	CFAP418	OMIM:617406
HP:0002910	Elevated circulating hepatic transaminase concentration	84100	ARL6	ORPHA:110
HP:0002910	Elevated circulating hepatic transaminase concentration	129880	BBS5	ORPHA:110
HP:0002910	Elevated circulating hepatic transaminase concentration	80173	IFT74	ORPHA:110
HP:0002910	Elevated circulating hepatic transaminase concentration	51594	NBAS	OMIM:616483
HP:0002910	Elevated circulating hepatic transaminase concentration	11277	TREX1	OMIM:192315
HP:0002910	Elevated circulating hepatic transaminase concentration	11277	TREX1	ORPHA:51
HP:0002910	Elevated circulating hepatic transaminase concentration	11277	TREX1	OMIM:225750
HP:0002910	Elevated circulating hepatic transaminase concentration	54914	FOCAD	OMIM:619991
HP:0002910	Elevated circulating hepatic transaminase concentration	2677	GGCX	OMIM:277450
HP:0002910	Elevated circulating hepatic transaminase concentration	10068	IL18BP	OMIM:618549
HP:0002910	Elevated circulating hepatic transaminase concentration	540	ATP7B	ORPHA:905
HP:0002910	Elevated circulating hepatic transaminase concentration	2321	FLT1	ORPHA:275555
HP:0002910	Elevated circulating hepatic transaminase concentration	219736	STOX1	ORPHA:275555
HP:0002910	Elevated circulating hepatic transaminase concentration	10699	CORIN	ORPHA:275555
HP:0002910	Elevated circulating hepatic transaminase concentration	5836	PYGL	OMIM:232700
HP:0002910	Elevated circulating hepatic transaminase concentration	5836	PYGL	ORPHA:369
HP:0002910	Elevated circulating hepatic transaminase concentration	10056	FARSB	OMIM:613658
HP:0002910	Elevated circulating hepatic transaminase concentration	2203	FBP1	ORPHA:348
HP:0002910	Elevated circulating hepatic transaminase concentration	472	ATM	ORPHA:100
HP:0002910	Elevated circulating hepatic transaminase concentration	5551	PRF1	OMIM:603553
HP:0002910	Elevated circulating hepatic transaminase concentration	5551	PRF1	ORPHA:540
HP:0002910	Elevated circulating hepatic transaminase concentration	6804	STX1A	ORPHA:586
HP:0002910	Elevated circulating hepatic transaminase concentration	2947	GSTM3	ORPHA:586
HP:0002910	Elevated circulating hepatic transaminase concentration	7040	TGFB1	ORPHA:586
HP:0002910	Elevated circulating hepatic transaminase concentration	2729	GCLC	ORPHA:586
HP:0002910	Elevated circulating hepatic transaminase concentration	1084	CEACAM3	ORPHA:586
HP:0002910	Elevated circulating hepatic transaminase concentration	6556	SLC11A1	ORPHA:586
HP:0002910	Elevated circulating hepatic transaminase concentration	51164	DCTN4	ORPHA:586
HP:0002910	Elevated circulating hepatic transaminase concentration	3783	KCNN4	ORPHA:586
HP:0002910	Elevated circulating hepatic transaminase concentration	4282	MIF	ORPHA:586
HP:0002910	Elevated circulating hepatic transaminase concentration	1909	EDNRA	ORPHA:586
HP:0002910	Elevated circulating hepatic transaminase concentration	6550	SLC9A3	ORPHA:586
HP:0002910	Elevated circulating hepatic transaminase concentration	3162	HMOX1	ORPHA:586
HP:0002910	Elevated circulating hepatic transaminase concentration	115019	SLC26A9	ORPHA:586
HP:0002910	Elevated circulating hepatic transaminase concentration	3077	HFE	ORPHA:586
HP:0002910	Elevated circulating hepatic transaminase concentration	3077	HFE	OMIM:235200
HP:0002910	Elevated circulating hepatic transaminase concentration	11254	SLC6A14	ORPHA:586
HP:0002910	Elevated circulating hepatic transaminase concentration	5265	SERPINA1	ORPHA:586
HP:0002910	Elevated circulating hepatic transaminase concentration	5265	SERPINA1	OMIM:613490
HP:0002910	Elevated circulating hepatic transaminase concentration	1080	CFTR	ORPHA:586
HP:0002910	Elevated circulating hepatic transaminase concentration	22802	CLCA4	ORPHA:586
HP:0002910	Elevated circulating hepatic transaminase concentration	4680	CEACAM6	ORPHA:586
HP:0002910	Elevated circulating hepatic transaminase concentration	5244	ABCB4	OMIM:602347
HP:0002910	Elevated circulating hepatic transaminase concentration	5244	ABCB4	ORPHA:69663
HP:0002910	Elevated circulating hepatic transaminase concentration	5244	ABCB4	ORPHA:69665
HP:0002910	Elevated circulating hepatic transaminase concentration	5244	ABCB4	OMIM:600803
HP:0002910	Elevated circulating hepatic transaminase concentration	8818	DPM2	OMIM:615042
HP:0002910	Elevated circulating hepatic transaminase concentration	8818	DPM2	ORPHA:329178
HP:0002910	Elevated circulating hepatic transaminase concentration	7385	UQCRC2	OMIM:615160
HP:0002910	Elevated circulating hepatic transaminase concentration	130340	AP1S3	ORPHA:247353
HP:0002910	Elevated circulating hepatic transaminase concentration	26525	IL36RN	ORPHA:247353
HP:0002910	Elevated circulating hepatic transaminase concentration	57169	ZNFX1	OMIM:619644
HP:0002910	Elevated circulating hepatic transaminase concentration	25970	SH2B1	ORPHA:329249
HP:0002910	Elevated circulating hepatic transaminase concentration	5205	ATP8B1	ORPHA:69665
HP:0002910	Elevated circulating hepatic transaminase concentration	5205	ATP8B1	OMIM:147480
HP:0002910	Elevated circulating hepatic transaminase concentration	8647	ABCB11	ORPHA:69665
HP:0002910	Elevated circulating hepatic transaminase concentration	9971	NR1H4	ORPHA:69665
HP:0002910	Elevated circulating hepatic transaminase concentration	182	JAG1	OMIM:118450
HP:0002910	Elevated circulating hepatic transaminase concentration	10165	SLC25A13	ORPHA:247598
HP:0002910	Elevated circulating hepatic transaminase concentration	10165	SLC25A13	ORPHA:247585
HP:0002910	Elevated circulating hepatic transaminase concentration	84033	OBSCN	ORPHA:99845
HP:0002910	Elevated circulating hepatic transaminase concentration	23175	LPIN1	ORPHA:99845
HP:0002910	Elevated circulating hepatic transaminase concentration	4512	MT-CO1	ORPHA:99845
HP:0002910	Elevated circulating hepatic transaminase concentration	4514	MT-CO3	ORPHA:99845
HP:0002910	Elevated circulating hepatic transaminase concentration	6392	SDHD	ORPHA:100093
HP:0002910	Elevated circulating hepatic transaminase concentration	51128	SAR1B	ORPHA:71
HP:0002910	Elevated circulating hepatic transaminase concentration	2683	B4GALT1	ORPHA:79332
HP:0002910	Elevated circulating hepatic transaminase concentration	91949	COG7	ORPHA:79333
HP:0002910	Elevated circulating hepatic transaminase concentration	57104	PNPLA2	OMIM:610717
HP:0002910	Elevated circulating hepatic transaminase concentration	57104	PNPLA2	ORPHA:98908
HP:0002910	Elevated circulating hepatic transaminase concentration	9968	MED12	OMIM:301068
HP:0002910	Elevated circulating hepatic transaminase concentration	9493	KIF23	ORPHA:98870
HP:0002910	Elevated circulating hepatic transaminase concentration	29127	RACGAP1	ORPHA:98870
HP:0002910	Elevated circulating hepatic transaminase concentration	4846	NOS3	OMIM:189800
HP:0002910	Elevated circulating hepatic transaminase concentration	34	ACADM	ORPHA:42
HP:0002910	Elevated circulating hepatic transaminase concentration	34	ACADM	OMIM:201450
HP:0002910	Elevated circulating hepatic transaminase concentration	8813	DPM1	OMIM:608799
HP:0002910	Elevated circulating hepatic transaminase concentration	8813	DPM1	ORPHA:79322
HP:0002910	Elevated circulating hepatic transaminase concentration	811	CALR	ORPHA:131
HP:0002910	Elevated circulating hepatic transaminase concentration	3717	JAK2	ORPHA:131
HP:0002910	Elevated circulating hepatic transaminase concentration	2153	F5	ORPHA:131
HP:0002910	Elevated circulating hepatic transaminase concentration	5692	PSMB4	OMIM:617591
HP:0002910	Elevated circulating hepatic transaminase concentration	125988	MICOS13	OMIM:618329
HP:0002910	Elevated circulating hepatic transaminase concentration	50943	FOXP3	ORPHA:37042
HP:0002910	Elevated circulating hepatic transaminase concentration	5194	PEX13	OMIM:614883
HP:0002910	Elevated circulating hepatic transaminase concentration	3172	HNF4A	OMIM:616026
HP:0002910	Elevated circulating hepatic transaminase concentration	3172	HNF4A	ORPHA:263455
HP:0002910	Elevated circulating hepatic transaminase concentration	57817	HAMP	OMIM:613313
HP:0002910	Elevated circulating hepatic transaminase concentration	57817	HAMP	ORPHA:79230
HP:0002910	Elevated circulating hepatic transaminase concentration	5824	PEX19	OMIM:614886
HP:0002910	Elevated circulating hepatic transaminase concentration	147007	TMEM199	OMIM:616829
HP:0002910	Elevated circulating hepatic transaminase concentration	84317	CCDC115	OMIM:616828
HP:0002910	Elevated circulating hepatic transaminase concentration	2184	FAH	OMIM:276700
HP:0002910	Elevated circulating hepatic transaminase concentration	79087	ALG12	ORPHA:79324
HP:0002910	Elevated circulating hepatic transaminase concentration	79053	ALG8	ORPHA:79325
HP:0002910	Elevated circulating hepatic transaminase concentration	197322	ACSF3	ORPHA:289504
HP:0002910	Elevated circulating hepatic transaminase concentration	546	ATRX	ORPHA:100075
HP:0002910	Elevated circulating hepatic transaminase concentration	5825	ABCD3	OMIM:616278
HP:0002910	Elevated circulating hepatic transaminase concentration	54344	DPM3	ORPHA:263494
HP:0002910	Elevated circulating hepatic transaminase concentration	54344	DPM3	OMIM:612937
HP:0002910	Elevated circulating hepatic transaminase concentration	51117	COQ4	OMIM:616276
HP:0002910	Elevated circulating hepatic transaminase concentration	51067	YARS2	OMIM:613561
HP:0002910	Elevated circulating hepatic transaminase concentration	5256	PHKA2	ORPHA:264580
HP:0002910	Elevated circulating hepatic transaminase concentration	5256	PHKA2	OMIM:306000
HP:0002910	Elevated circulating hepatic transaminase concentration	5261	PHKG2	ORPHA:264580
HP:0002910	Elevated circulating hepatic transaminase concentration	5261	PHKG2	OMIM:613027
HP:0002910	Elevated circulating hepatic transaminase concentration	284119	CAVIN1	OMIM:613327
HP:0002910	Elevated circulating hepatic transaminase concentration	3242	HPD	OMIM:276710
HP:0002910	Elevated circulating hepatic transaminase concentration	2658	GDF2	OMIM:615506
HP:0002910	Elevated circulating hepatic transaminase concentration	10535	RNASEH2A	ORPHA:51
HP:0002910	Elevated circulating hepatic transaminase concentration	10535	RNASEH2A	OMIM:610333
HP:0002910	Elevated circulating hepatic transaminase concentration	84153	RNASEH2C	ORPHA:51
HP:0002910	Elevated circulating hepatic transaminase concentration	84153	RNASEH2C	OMIM:610329
HP:0002910	Elevated circulating hepatic transaminase concentration	25939	SAMHD1	ORPHA:51
HP:0002910	Elevated circulating hepatic transaminase concentration	79621	RNASEH2B	ORPHA:51
HP:0002910	Elevated circulating hepatic transaminase concentration	103	ADAR	ORPHA:51
HP:0002910	Elevated circulating hepatic transaminase concentration	100147744	RNU7-1	ORPHA:51
HP:0002910	Elevated circulating hepatic transaminase concentration	100147744	RNU7-1	OMIM:619487
HP:0002910	Elevated circulating hepatic transaminase concentration	134353	LSM11	ORPHA:51
HP:0002910	Elevated circulating hepatic transaminase concentration	64135	IFIH1	ORPHA:51
HP:0002910	Elevated circulating hepatic transaminase concentration	435	ASL	ORPHA:23
HP:0002910	Elevated circulating hepatic transaminase concentration	10159	ATP6AP2	OMIM:301045
HP:0002910	Elevated circulating hepatic transaminase concentration	291	SLC25A4	ORPHA:254892
HP:0002910	Elevated circulating hepatic transaminase concentration	56652	TWNK	ORPHA:254892
HP:0002910	Elevated circulating hepatic transaminase concentration	3155	HMGCL	ORPHA:20
HP:0002910	Elevated circulating hepatic transaminase concentration	10466	COG5	ORPHA:263487
HP:0002910	Elevated circulating hepatic transaminase concentration	212	ALAS2	OMIM:300752
HP:0002910	Elevated circulating hepatic transaminase concentration	212	ALAS2	ORPHA:75563
HP:0002910	Elevated circulating hepatic transaminase concentration	22845	DOLK	ORPHA:91131
HP:0002910	Elevated circulating hepatic transaminase concentration	81570	CLPB	ORPHA:445038
HP:0002910	Elevated circulating hepatic transaminase concentration	55593	OTUD5	OMIM:301056
HP:0002910	Elevated circulating hepatic transaminase concentration	8676	STX11	ORPHA:540
HP:0002910	Elevated circulating hepatic transaminase concentration	201294	UNC13D	ORPHA:540
HP:0002910	Elevated circulating hepatic transaminase concentration	6813	STXBP2	ORPHA:540
HP:0002910	Elevated circulating hepatic transaminase concentration	91147	TMEM67	OMIM:216360
HP:0002910	Elevated circulating hepatic transaminase concentration	91147	TMEM67	ORPHA:1454
HP:0002910	Elevated circulating hepatic transaminase concentration	91147	TMEM67	ORPHA:84081
HP:0002910	Elevated circulating hepatic transaminase concentration	5009	OTC	ORPHA:664
HP:0002910	Elevated circulating hepatic transaminase concentration	55182	RNF220	OMIM:619688
HP:0002910	Elevated circulating hepatic transaminase concentration	29998	BICRA	OMIM:619325
HP:0002910	Elevated circulating hepatic transaminase concentration	51601	LIPT1	OMIM:616299
HP:0002910	Elevated circulating hepatic transaminase concentration	79644	SRD5A3	OMIM:612379
HP:0002910	Elevated circulating hepatic transaminase concentration	79644	SRD5A3	ORPHA:324737
HP:0002910	Elevated circulating hepatic transaminase concentration	10166	SLC25A15	ORPHA:415
HP:0002910	Elevated circulating hepatic transaminase concentration	2592	GALT	ORPHA:79239
HP:0002910	Elevated circulating hepatic transaminase concentration	427	ASAH1	ORPHA:333
HP:0002910	Elevated circulating hepatic transaminase concentration	3106	HLA-B	ORPHA:36426
HP:0002910	Elevated circulating hepatic transaminase concentration	10320	IKZF1	ORPHA:36426
HP:0002910	Elevated circulating hepatic transaminase concentration	22796	COG2	OMIM:617395
HP:0002910	Elevated circulating hepatic transaminase concentration	55240	STEAP3	ORPHA:300298
HP:0002910	Elevated circulating hepatic transaminase concentration	3930	LBR	OMIM:613471
HP:0002910	Elevated circulating hepatic transaminase concentration	537	ATP6AP1	OMIM:300972
HP:0002910	Elevated circulating hepatic transaminase concentration	51218	GLRX5	OMIM:616860
HP:0002910	Elevated circulating hepatic transaminase concentration	6928	HNF1B	OMIM:137920
HP:0002910	Elevated circulating hepatic transaminase concentration	6928	HNF1B	ORPHA:261265
HP:0002910	Elevated circulating hepatic transaminase concentration	6928	HNF1B	ORPHA:93111
HP:0002910	Elevated circulating hepatic transaminase concentration	7019	TFAM	OMIM:617156
HP:0002910	Elevated circulating hepatic transaminase concentration	11274	USP18	OMIM:617397
HP:0002910	Elevated circulating hepatic transaminase concentration	10616	RBCK1	OMIM:615895
HP:0002910	Elevated circulating hepatic transaminase concentration	3376	IARS1	ORPHA:541423
HP:0002910	Elevated circulating hepatic transaminase concentration	708	C1QBP	OMIM:617713
HP:0002910	Elevated circulating hepatic transaminase concentration	5257	PHKB	ORPHA:79240
HP:0002910	Elevated circulating hepatic transaminase concentration	3431	SP110	ORPHA:79124
HP:0002910	Elevated circulating hepatic transaminase concentration	128989	TANGO2	ORPHA:480864
HP:0002910	Elevated circulating hepatic transaminase concentration	5130	PCYT1A	OMIM:620680
HP:0002910	Elevated circulating hepatic transaminase concentration	3158	HMGCS2	OMIM:605911
HP:0002910	Elevated circulating hepatic transaminase concentration	4547	MTTP	ORPHA:14
HP:0002910	Elevated circulating hepatic transaminase concentration	191	AHCY	ORPHA:88618
HP:0002910	Elevated circulating hepatic transaminase concentration	26276	VPS33B	OMIM:208085
HP:0002910	Elevated circulating hepatic transaminase concentration	8802	SUCLG1	ORPHA:17
HP:0002910	Elevated circulating hepatic transaminase concentration	55340	GIMAP5	OMIM:619463
HP:0002910	Elevated circulating hepatic transaminase concentration	57511	COG6	OMIM:614576
HP:0002910	Elevated circulating hepatic transaminase concentration	7289	TULP3	OMIM:619902
HP:0002910	Elevated circulating hepatic transaminase concentration	56623	INPP5E	ORPHA:1454
HP:0002910	Elevated circulating hepatic transaminase concentration	23322	RPGRIP1L	ORPHA:1454
HP:0002910	Elevated circulating hepatic transaminase concentration	57545	CC2D2A	ORPHA:1454
HP:0002910	Elevated circulating hepatic transaminase concentration	57545	CC2D2A	OMIM:619111
HP:0002910	Elevated circulating hepatic transaminase concentration	672	BRCA1	ORPHA:1333
HP:0002910	Elevated circulating hepatic transaminase concentration	285282	RABL3	ORPHA:1333
HP:0002910	Elevated circulating hepatic transaminase concentration	7157	TP53	ORPHA:1333
HP:0002910	Elevated circulating hepatic transaminase concentration	675	BRCA2	ORPHA:1333
HP:0002910	Elevated circulating hepatic transaminase concentration	3845	KRAS	ORPHA:1333
HP:0002910	Elevated circulating hepatic transaminase concentration	1029	CDKN2A	ORPHA:1333
HP:0002910	Elevated circulating hepatic transaminase concentration	79728	PALB2	ORPHA:1333
HP:0002910	Elevated circulating hepatic transaminase concentration	4089	SMAD4	ORPHA:1333
HP:0002910	Elevated circulating hepatic transaminase concentration	23022	PALLD	ORPHA:1333
HP:0002910	Elevated circulating hepatic transaminase concentration	23495	TNFRSF13B	ORPHA:1572
HP:0002910	Elevated circulating hepatic transaminase concentration	4790	NFKB1	ORPHA:1572
HP:0002910	Elevated circulating hepatic transaminase concentration	4791	NFKB2	ORPHA:1572
HP:0002910	Elevated circulating hepatic transaminase concentration	115650	TNFRSF13C	ORPHA:1572
HP:0002910	Elevated circulating hepatic transaminase concentration	1380	CR2	ORPHA:1572
HP:0002910	Elevated circulating hepatic transaminase concentration	8742	TNFSF12	ORPHA:1572
HP:0002910	Elevated circulating hepatic transaminase concentration	930	CD19	ORPHA:1572
HP:0002910	Elevated circulating hepatic transaminase concentration	29851	ICOS	ORPHA:1572
HP:0002910	Elevated circulating hepatic transaminase concentration	931	MS4A1	ORPHA:1572
HP:0002910	Elevated circulating hepatic transaminase concentration	975	CD81	ORPHA:1572
HP:0002910	Elevated circulating hepatic transaminase concentration	359948	IRF2BP2	ORPHA:1572
HP:0002910	Elevated circulating hepatic transaminase concentration	148738	HJV	ORPHA:79230
HP:0002910	Elevated circulating hepatic transaminase concentration	5498	PPOX	ORPHA:79473
HP:0002910	Elevated circulating hepatic transaminase concentration	1756	DMD	ORPHA:98895
HP:0002910	Elevated circulating hepatic transaminase concentration	650	BMP2	OMIM:235200
HP:0002910	Elevated circulating hepatic transaminase concentration	3939	LDHA	ORPHA:284426
HP:0002910	Elevated circulating hepatic transaminase concentration	51241	COX16	OMIM:619355
HP:0002910	Elevated circulating hepatic transaminase concentration	3975	LHX1	ORPHA:261265
HP:0002910	Elevated circulating hepatic transaminase concentration	10367	MICU1	OMIM:615673
HP:0002910	Elevated circulating hepatic transaminase concentration	26580	BSCL2	OMIM:269700
HP:0002910	Elevated circulating hepatic transaminase concentration	6711	SPTBN1	OMIM:619475
HP:0002910	Elevated circulating hepatic transaminase concentration	51520	LARS1	OMIM:615438
HP:0002910	Elevated circulating hepatic transaminase concentration	4534	MTM1	OMIM:310400
HP:0002910	Elevated circulating hepatic transaminase concentration	7036	TFR2	OMIM:604250
HP:0002910	Elevated circulating hepatic transaminase concentration	215	ABCD1	ORPHA:369942
HP:0002910	Elevated circulating hepatic transaminase concentration	10134	BCAP31	ORPHA:369942
HP:0002910	Elevated circulating hepatic transaminase concentration	440138	ALG11	ORPHA:280071
HP:0002910	Elevated circulating hepatic transaminase concentration	10651	MTX2	OMIM:619127
HP:0002910	Elevated circulating hepatic transaminase concentration	51124	IER3IP1	OMIM:614231
HP:0002910	Elevated circulating hepatic transaminase concentration	200931	SLC51A	OMIM:619484
HP:0002910	Elevated circulating hepatic transaminase concentration	51816	ADA2	OMIM:615688
HP:0002910	Elevated circulating hepatic transaminase concentration	28957	MRPS28	OMIM:618958
HP:0002910	Elevated circulating hepatic transaminase concentration	3075	CFH	ORPHA:244242
HP:0002910	Elevated circulating hepatic transaminase concentration	3426	CFI	ORPHA:244242
HP:0002910	Elevated circulating hepatic transaminase concentration	4179	CD46	ORPHA:244242
HP:0002910	Elevated circulating hepatic transaminase concentration	101101692	HELLPAR	ORPHA:244242
HP:0002910	Elevated circulating hepatic transaminase concentration	51473	DCDC2	ORPHA:84081
HP:0002910	Elevated circulating hepatic transaminase concentration	2998	GYS2	ORPHA:2089
HP:0002910	Elevated circulating hepatic transaminase concentration	51703	ACSL5	OMIM:620357
HP:0002910	Elevated circulating hepatic transaminase concentration	100506658	OCLN	OMIM:251290
HP:0002910	Elevated circulating hepatic transaminase concentration	3033	HADH	ORPHA:71212
HP:0002910	Elevated circulating hepatic transaminase concentration	3030	HADHA	OMIM:609015
HP:0002910	Elevated circulating hepatic transaminase concentration	27232	GNMT	OMIM:606664
HP:0002910	Elevated circulating hepatic transaminase concentration	64240	ABCG5	ORPHA:2882
HP:0002910	Elevated circulating hepatic transaminase concentration	64241	ABCG8	ORPHA:2882
HP:0002910	Elevated circulating hepatic transaminase concentration	617	BCS1L	OMIM:124000
HP:0002910	Elevated circulating hepatic transaminase concentration	2273	FHL1	OMIM:300280
HP:0002910	Elevated circulating hepatic transaminase concentration	51	ACOX1	OMIM:264470
HP:0002910	Elevated circulating hepatic transaminase concentration	1650	DDOST	ORPHA:300536
HP:0002910	Elevated circulating hepatic transaminase concentration	2819	GPD1	OMIM:614480
HP:0002910	Elevated circulating hepatic transaminase concentration	1537	CYC1	OMIM:615453
HP:0002910	Elevated circulating hepatic transaminase concentration	2193	FARSA	OMIM:619013
HP:0002910	Elevated circulating hepatic transaminase concentration	178	AGL	OMIM:232400
HP:0002910	Elevated circulating hepatic transaminase concentration	51099	ABHD5	ORPHA:98907
HP:0002910	Elevated circulating hepatic transaminase concentration	131118	DNAJC19	ORPHA:66634
HP:0002910	Elevated circulating hepatic transaminase concentration	5236	PGM1	OMIM:614921
HP:0002910	Elevated circulating hepatic transaminase concentration	5557	PRIM1	OMIM:620005
HP:0002910	Elevated circulating hepatic transaminase concentration	3295	HSD17B4	OMIM:261515
HP:0002910	Elevated circulating hepatic transaminase concentration	10020	GNE	ORPHA:3166
HP:0002910	Elevated circulating hepatic transaminase concentration	8481	OFD1	ORPHA:2750
HP:0002910	Elevated circulating hepatic transaminase concentration	9451	EIF2AK3	ORPHA:1667
HP:0002910	Elevated circulating hepatic transaminase concentration	37	ACADVL	ORPHA:26793
HP:0002910	Elevated circulating hepatic transaminase concentration	4627	MYH9	ORPHA:182050
HP:0002910	Elevated circulating hepatic transaminase concentration	90523	MLIP	OMIM:620138
HP:0002910	Elevated circulating hepatic transaminase concentration	5696	PSMB8	OMIM:256040
HP:0002910	Elevated circulating hepatic transaminase concentration	22909	FAN1	OMIM:614817
HP:0002910	Elevated circulating hepatic transaminase concentration	29929	ALG6	OMIM:603147
HP:0002910	Elevated circulating hepatic transaminase concentration	286053	NSMCE2	OMIM:617253
HP:0002910	Elevated circulating hepatic transaminase concentration	4952	OCRL	OMIM:300555
HP:0002910	Elevated circulating hepatic transaminase concentration	8482	SEMA7A	OMIM:619874
HP:0002910	Elevated circulating hepatic transaminase concentration	57128	LYRM4	OMIM:615595
HP:0002910	Elevated circulating hepatic transaminase concentration	2629	GBA1	ORPHA:85212
HP:0002910	Elevated circulating hepatic transaminase concentration	65080	MRPL44	OMIM:615395
HP:0002910	Elevated circulating hepatic transaminase concentration	570	BAAT	OMIM:619232
HP:0002910	Elevated circulating hepatic transaminase concentration	11222	MRPL3	OMIM:614582
HP:0002910	Elevated circulating hepatic transaminase concentration	7381	UQCRB	OMIM:615158
HP:0002910	Elevated circulating hepatic transaminase concentration	5580	PRKCD	OMIM:615559
HP:0002910	Elevated circulating hepatic transaminase concentration	5828	PEX2	OMIM:614866
HP:0002910	Elevated circulating hepatic transaminase concentration	338	APOB	OMIM:615558
HP:0002910	Elevated circulating hepatic transaminase concentration	3032	HADHB	OMIM:620300
HP:0002910	Elevated circulating hepatic transaminase concentration	9420	CYP7B1	OMIM:613812
HP:0002910	Elevated circulating hepatic transaminase concentration	9420	CYP7B1	ORPHA:79302
HP:0002910	Elevated circulating hepatic transaminase concentration	6609	SMPD1	OMIM:257200
HP:0002910	Elevated circulating hepatic transaminase concentration	123264	SLC51B	OMIM:619481
HP:0002910	Elevated circulating hepatic transaminase concentration	197131	UBR1	OMIM:243800
HP:0002910	Elevated circulating hepatic transaminase concentration	55610	VPS50	OMIM:619685
HP:0002910	Elevated circulating hepatic transaminase concentration	7504	XK	OMIM:300842
HP:0002910	Elevated circulating hepatic transaminase concentration	6514	SLC2A2	OMIM:227810
HP:0002910	Elevated circulating hepatic transaminase concentration	6514	SLC2A2	ORPHA:2088
HP:0002910	Elevated circulating hepatic transaminase concentration	6341	SCO1	OMIM:619048
HP:0002910	Elevated circulating hepatic transaminase concentration	4141	MARS1	OMIM:615486
HP:0002910	Elevated circulating hepatic transaminase concentration	54931	TRMT10C	OMIM:616974
HP:0002910	Elevated circulating hepatic transaminase concentration	5184	PEPD	OMIM:170100
HP:0002910	Elevated circulating hepatic transaminase concentration	8309	ACOX2	OMIM:617308
HP:0002910	Elevated circulating hepatic transaminase concentration	9409	PEX16	OMIM:614876
HP:0002910	Elevated circulating hepatic transaminase concentration	7486	WRN	OMIM:277700
HP:0002910	Elevated circulating hepatic transaminase concentration	5698	PSMB9	OMIM:620796
HP:0002910	Elevated circulating hepatic transaminase concentration	79989	IFT56	OMIM:619534
HP:0002910	Elevated circulating hepatic transaminase concentration	51116	MRPS2	OMIM:617950
HP:0002910	Elevated circulating hepatic transaminase concentration	9215	LARGE1	OMIM:613154
HP:0002910	Elevated circulating hepatic transaminase concentration	50619	DEF6	OMIM:619573
HP:0002910	Elevated circulating hepatic transaminase concentration	348	APOE	OMIM:269600
HP:0002910	Elevated circulating hepatic transaminase concentration	3988	LIPA	OMIM:278000
HP:0002910	Elevated circulating hepatic transaminase concentration	9487	PIGL	OMIM:280000
HP:0002910	Elevated circulating hepatic transaminase concentration	859	CAV3	OMIM:614321
HP:0002910	Elevated circulating hepatic transaminase concentration	6240	RRM1	OMIM:620647
HP:0002910	Elevated circulating hepatic transaminase concentration	54532	USP53	OMIM:619658
HP:0002910	Elevated circulating hepatic transaminase concentration	5195	PEX14	OMIM:614887
HP:0002910	Elevated circulating hepatic transaminase concentration	55858	TMEM165	OMIM:614727
HP:0002910	Elevated circulating hepatic transaminase concentration	7841	MOGS	OMIM:606056
HP:0002910	Elevated circulating hepatic transaminase concentration	124454	EARS2	OMIM:614924
HP:0002910	Elevated circulating hepatic transaminase concentration	1807	DPYS	OMIM:222748
HP:0002910	Elevated circulating hepatic transaminase concentration	4000	LMNA	OMIM:151660
HP:0002910	Elevated circulating hepatic transaminase concentration	64121	RRAGC	OMIM:620609
HP:0002910	Elevated circulating hepatic transaminase concentration	9054	NFS1	OMIM:619386
HP:0002910	Elevated circulating hepatic transaminase concentration	113220	KIF12	OMIM:619662
HP:0002910	Elevated circulating hepatic transaminase concentration	1794	DOCK2	OMIM:616433
HP:0002910	Elevated circulating hepatic transaminase concentration	23230	VPS13A	ORPHA:2388
HP:0002910	Elevated circulating hepatic transaminase concentration	4645	MYO5B	OMIM:619868
HP:0002910	Elevated circulating hepatic transaminase concentration	6811	STX5	OMIM:620454
HP:0002910	Elevated circulating hepatic transaminase concentration	3156	HMGCR	OMIM:620375
HP:0002910	Elevated circulating hepatic transaminase concentration	4067	LYN	OMIM:620376
HP:0002910	Elevated circulating hepatic transaminase concentration	6309	SC5D	OMIM:607330
HP:0002910	Elevated circulating hepatic transaminase concentration	23019	CNOT1	OMIM:618500
HP:0002910	Elevated circulating hepatic transaminase concentration	132	ADK	OMIM:614300
HP:0002910	Elevated circulating hepatic transaminase concentration	5314	PKHD1	ORPHA:53035
HP:0002910	Elevated circulating hepatic transaminase concentration	2548	GAA	ORPHA:308552
HP:0002910	Elevated circulating hepatic transaminase concentration	226	ALDOA	OMIM:611881
HP:0002910	Elevated circulating hepatic transaminase concentration	5105	PCK1	OMIM:261680
HP:0002910	Elevated circulating hepatic transaminase concentration	26007	TKFC	OMIM:618805
HP:0002910	Elevated circulating hepatic transaminase concentration	8772	FADD	OMIM:613759
HP:0002910	Elevated circulating hepatic transaminase concentration	587	BCAT2	OMIM:618850
HP:0002910	Elevated circulating hepatic transaminase concentration	6773	STAT2	OMIM:616636
HP:0003155	Elevated circulating alkaline phosphatase concentration	171023	ASXL1	ORPHA:98850
HP:0003155	Elevated circulating alkaline phosphatase concentration	54790	TET2	ORPHA:98850
HP:0003155	Elevated circulating alkaline phosphatase concentration	867	CBL	ORPHA:98850
HP:0003155	Elevated circulating alkaline phosphatase concentration	861	RUNX1	ORPHA:98850
HP:0003155	Elevated circulating alkaline phosphatase concentration	6427	SRSF2	ORPHA:98850
HP:0003155	Elevated circulating alkaline phosphatase concentration	9488	PIGB	OMIM:618580
HP:0003155	Elevated circulating alkaline phosphatase concentration	3376	IARS1	OMIM:617093
HP:0003155	Elevated circulating alkaline phosphatase concentration	79705	LRRK1	OMIM:615198
HP:0003155	Elevated circulating alkaline phosphatase concentration	55503	TRPV6	OMIM:618188
HP:0003155	Elevated circulating alkaline phosphatase concentration	10312	TCIRG1	OMIM:259700
HP:0003155	Elevated circulating alkaline phosphatase concentration	10312	TCIRG1	ORPHA:210110
HP:0003155	Elevated circulating alkaline phosphatase concentration	5279	PIGC	OMIM:617816
HP:0003155	Elevated circulating alkaline phosphatase concentration	5314	PKHD1	ORPHA:53035
HP:0003155	Elevated circulating alkaline phosphatase concentration	9420	CYP7B1	ORPHA:79302
HP:0003155	Elevated circulating alkaline phosphatase concentration	9420	CYP7B1	OMIM:613812
HP:0003155	Elevated circulating alkaline phosphatase concentration	7157	TP53	ORPHA:668
HP:0003155	Elevated circulating alkaline phosphatase concentration	5925	RB1	ORPHA:668
HP:0003155	Elevated circulating alkaline phosphatase concentration	11200	CHEK2	ORPHA:668
HP:0003155	Elevated circulating alkaline phosphatase concentration	6718	AKR1D1	ORPHA:79303
HP:0003155	Elevated circulating alkaline phosphatase concentration	6718	AKR1D1	OMIM:235555
HP:0003155	Elevated circulating alkaline phosphatase concentration	5745	PTH1R	OMIM:600002
HP:0003155	Elevated circulating alkaline phosphatase concentration	5745	PTH1R	OMIM:156400
HP:0003155	Elevated circulating alkaline phosphatase concentration	128869	PIGU	OMIM:618590
HP:0003155	Elevated circulating alkaline phosphatase concentration	10165	SLC25A13	OMIM:605814
HP:0003155	Elevated circulating alkaline phosphatase concentration	10165	SLC25A13	ORPHA:247598
HP:0003155	Elevated circulating alkaline phosphatase concentration	6514	SLC2A2	OMIM:227810
HP:0003155	Elevated circulating alkaline phosphatase concentration	6514	SLC2A2	ORPHA:2088
HP:0003155	Elevated circulating alkaline phosphatase concentration	8792	TNFRSF11A	OMIM:174810
HP:0003155	Elevated circulating alkaline phosphatase concentration	8792	TNFRSF11A	OMIM:602080
HP:0003155	Elevated circulating alkaline phosphatase concentration	5244	ABCB4	OMIM:600803
HP:0003155	Elevated circulating alkaline phosphatase concentration	5244	ABCB4	ORPHA:69665
HP:0003155	Elevated circulating alkaline phosphatase concentration	10026	PIGK	OMIM:618879
HP:0003155	Elevated circulating alkaline phosphatase concentration	5176	SERPINF1	OMIM:613982
HP:0003155	Elevated circulating alkaline phosphatase concentration	10686	CLDN16	OMIM:248250
HP:0003155	Elevated circulating alkaline phosphatase concentration	120227	CYP2R1	OMIM:600081
HP:0003155	Elevated circulating alkaline phosphatase concentration	120227	CYP2R1	ORPHA:289157
HP:0003155	Elevated circulating alkaline phosphatase concentration	55650	PIGV	OMIM:239300
HP:0003155	Elevated circulating alkaline phosphatase concentration	55650	PIGV	ORPHA:247262
HP:0003155	Elevated circulating alkaline phosphatase concentration	56975	FAM20C	OMIM:259775
HP:0003155	Elevated circulating alkaline phosphatase concentration	5251	PHEX	OMIM:307800
HP:0003155	Elevated circulating alkaline phosphatase concentration	5251	PHEX	ORPHA:89936
HP:0003155	Elevated circulating alkaline phosphatase concentration	90	ACVR1	OMIM:135100
HP:0003155	Elevated circulating alkaline phosphatase concentration	25839	COG4	ORPHA:263501
HP:0003155	Elevated circulating alkaline phosphatase concentration	25839	COG4	OMIM:613489
HP:0003155	Elevated circulating alkaline phosphatase concentration	84992	PIGY	ORPHA:247262
HP:0003155	Elevated circulating alkaline phosphatase concentration	84992	PIGY	OMIM:616809
HP:0003155	Elevated circulating alkaline phosphatase concentration	84720	PIGO	ORPHA:247262
HP:0003155	Elevated circulating alkaline phosphatase concentration	84720	PIGO	OMIM:614749
HP:0003155	Elevated circulating alkaline phosphatase concentration	93210	PGAP3	ORPHA:247262
HP:0003155	Elevated circulating alkaline phosphatase concentration	93210	PGAP3	OMIM:615716
HP:0003155	Elevated circulating alkaline phosphatase concentration	284098	PIGW	ORPHA:247262
HP:0003155	Elevated circulating alkaline phosphatase concentration	284098	PIGW	OMIM:616025
HP:0003155	Elevated circulating alkaline phosphatase concentration	27315	PGAP2	ORPHA:247262
HP:0003155	Elevated circulating alkaline phosphatase concentration	27315	PGAP2	OMIM:614207
HP:0003155	Elevated circulating alkaline phosphatase concentration	9487	PIGL	ORPHA:247262
HP:0003155	Elevated circulating alkaline phosphatase concentration	9487	PIGL	OMIM:280000
HP:0003155	Elevated circulating alkaline phosphatase concentration	8647	ABCB11	OMIM:601847
HP:0003155	Elevated circulating alkaline phosphatase concentration	8647	ABCB11	OMIM:605479
HP:0003155	Elevated circulating alkaline phosphatase concentration	8647	ABCB11	ORPHA:69665
HP:0003155	Elevated circulating alkaline phosphatase concentration	3930	LBR	OMIM:613471
HP:0003155	Elevated circulating alkaline phosphatase concentration	7019	TFAM	OMIM:617156
HP:0003155	Elevated circulating alkaline phosphatase concentration	56172	ANKH	OMIM:123000
HP:0003155	Elevated circulating alkaline phosphatase concentration	4358	MPV17	OMIM:256810
HP:0003155	Elevated circulating alkaline phosphatase concentration	4982	TNFRSF11B	OMIM:239000
HP:0003155	Elevated circulating alkaline phosphatase concentration	3172	HNF4A	ORPHA:263455
HP:0003155	Elevated circulating alkaline phosphatase concentration	3172	HNF4A	OMIM:616026
HP:0003155	Elevated circulating alkaline phosphatase concentration	1594	CYP27B1	OMIM:264700
HP:0003155	Elevated circulating alkaline phosphatase concentration	1594	CYP27B1	ORPHA:289157
HP:0003155	Elevated circulating alkaline phosphatase concentration	5277	PIGA	OMIM:300868
HP:0003155	Elevated circulating alkaline phosphatase concentration	5277	PIGA	OMIM:301072
HP:0003155	Elevated circulating alkaline phosphatase concentration	57511	COG6	OMIM:614576
HP:0003155	Elevated circulating alkaline phosphatase concentration	3178	HNRNPA1	OMIM:615424
HP:0003155	Elevated circulating alkaline phosphatase concentration	3178	HNRNPA1	OMIM:615426
HP:0003155	Elevated circulating alkaline phosphatase concentration	3178	HNRNPA1	ORPHA:52430
HP:0003155	Elevated circulating alkaline phosphatase concentration	7421	VDR	OMIM:277440
HP:0003155	Elevated circulating alkaline phosphatase concentration	3181	HNRNPA2B1	OMIM:615422
HP:0003155	Elevated circulating alkaline phosphatase concentration	3181	HNRNPA2B1	ORPHA:52430
HP:0003155	Elevated circulating alkaline phosphatase concentration	54872	PIGG	OMIM:616917
HP:0003155	Elevated circulating alkaline phosphatase concentration	6811	STX5	OMIM:620454
HP:0003155	Elevated circulating alkaline phosphatase concentration	79736	TEFM	OMIM:620451
HP:0003155	Elevated circulating alkaline phosphatase concentration	1576	CYP3A4	OMIM:619073
HP:0003155	Elevated circulating alkaline phosphatase concentration	1186	CLCN7	ORPHA:210110
HP:0003155	Elevated circulating alkaline phosphatase concentration	9842	PLEKHM1	ORPHA:210110
HP:0003155	Elevated circulating alkaline phosphatase concentration	8074	FGF23	ORPHA:89937
HP:0003155	Elevated circulating alkaline phosphatase concentration	8074	FGF23	OMIM:193100
HP:0003155	Elevated circulating alkaline phosphatase concentration	5311	PKD2	OMIM:613095
HP:0003155	Elevated circulating alkaline phosphatase concentration	57003	CCDC47	OMIM:618268
HP:0003155	Elevated circulating alkaline phosphatase concentration	142680	SLC34A3	OMIM:241530
HP:0003155	Elevated circulating alkaline phosphatase concentration	94005	PIGS	OMIM:618143
HP:0003155	Elevated circulating alkaline phosphatase concentration	5828	PEX2	OMIM:614866
HP:0003155	Elevated circulating alkaline phosphatase concentration	9091	PIGQ	OMIM:618548
HP:0003155	Elevated circulating alkaline phosphatase concentration	5589	PRKCSH	OMIM:174050
HP:0003155	Elevated circulating alkaline phosphatase concentration	5589	PRKCSH	ORPHA:2924
HP:0003155	Elevated circulating alkaline phosphatase concentration	80025	PANK2	OMIM:234200
HP:0003155	Elevated circulating alkaline phosphatase concentration	3594	IL12RB1	ORPHA:186
HP:0003155	Elevated circulating alkaline phosphatase concentration	23534	TNPO3	ORPHA:186
HP:0003155	Elevated circulating alkaline phosphatase concentration	3592	IL12A	ORPHA:186
HP:0003155	Elevated circulating alkaline phosphatase concentration	6689	SPIB	ORPHA:186
HP:0003155	Elevated circulating alkaline phosphatase concentration	5450	POU2AF1	ORPHA:186
HP:0003155	Elevated circulating alkaline phosphatase concentration	9966	TNFSF15	ORPHA:186
HP:0003155	Elevated circulating alkaline phosphatase concentration	79258	MMEL1	ORPHA:186
HP:0003155	Elevated circulating alkaline phosphatase concentration	3663	IRF5	ORPHA:186
HP:0003155	Elevated circulating alkaline phosphatase concentration	8733	GPAA1	ORPHA:529665
HP:0003155	Elevated circulating alkaline phosphatase concentration	2628	GATM	OMIM:134600
HP:0003155	Elevated circulating alkaline phosphatase concentration	200931	SLC51A	OMIM:619484
HP:0003155	Elevated circulating alkaline phosphatase concentration	5205	ATP8B1	ORPHA:69665
HP:0003155	Elevated circulating alkaline phosphatase concentration	9971	NR1H4	ORPHA:69665
HP:0003155	Elevated circulating alkaline phosphatase concentration	8878	SQSTM1	OMIM:167250
HP:0003155	Elevated circulating alkaline phosphatase concentration	11231	SEC63	ORPHA:2924
HP:0003155	Elevated circulating alkaline phosphatase concentration	4041	LRP5	ORPHA:2924
HP:0003155	Elevated circulating alkaline phosphatase concentration	51473	DCDC2	ORPHA:84081
HP:0003155	Elevated circulating alkaline phosphatase concentration	91147	TMEM67	ORPHA:84081
HP:0003155	Elevated circulating alkaline phosphatase concentration	2542	SLC37A4	OMIM:619525
HP:0003155	Elevated circulating alkaline phosphatase concentration	617	BCS1L	OMIM:124000
HP:0003155	Elevated circulating alkaline phosphatase concentration	7415	VCP	ORPHA:52430
HP:0003155	Elevated circulating alkaline phosphatase concentration	7415	VCP	ORPHA:329475
HP:0003155	Elevated circulating alkaline phosphatase concentration	50964	SOST	OMIM:122860
HP:0003155	Elevated circulating alkaline phosphatase concentration	23387	SIK3	OMIM:618162
HP:0003155	Elevated circulating alkaline phosphatase concentration	811	CALR	ORPHA:131
HP:0003155	Elevated circulating alkaline phosphatase concentration	3717	JAK2	ORPHA:131
HP:0003155	Elevated circulating alkaline phosphatase concentration	2153	F5	ORPHA:131
HP:0003155	Elevated circulating alkaline phosphatase concentration	79989	IFT56	OMIM:619534
HP:0003155	Elevated circulating alkaline phosphatase concentration	5167	ENPP1	OMIM:613312
HP:0003155	Elevated circulating alkaline phosphatase concentration	2591	GALNT3	OMIM:211900
HP:0003155	Elevated circulating alkaline phosphatase concentration	5557	PRIM1	OMIM:620005
HP:0003155	Elevated circulating alkaline phosphatase concentration	54532	USP53	OMIM:619658
HP:0003155	Elevated circulating alkaline phosphatase concentration	63916	ELMO2	OMIM:606893
HP:0003155	Elevated circulating alkaline phosphatase concentration	147007	TMEM199	OMIM:616829
HP:0003155	Elevated circulating alkaline phosphatase concentration	6522	SLC4A2	OMIM:620366
HP:0003155	Elevated circulating alkaline phosphatase concentration	166929	SGMS2	OMIM:126550
HP:0003155	Elevated circulating alkaline phosphatase concentration	60681	FKBP10	OMIM:610968
HP:0003155	Elevated circulating alkaline phosphatase concentration	11277	TREX1	ORPHA:247691
HP:0003155	Elevated circulating alkaline phosphatase concentration	55151	TMEM38B	OMIM:615066
HP:0003155	Elevated circulating alkaline phosphatase concentration	113220	KIF12	OMIM:619662
HP:0003155	Elevated circulating alkaline phosphatase concentration	335	APOA1	OMIM:620657
HP:0003155	Elevated circulating alkaline phosphatase concentration	57592	ZNF687	OMIM:616833
HP:0003155	Elevated circulating alkaline phosphatase concentration	3156	HMGCR	OMIM:620375
HP:0003155	Elevated circulating alkaline phosphatase concentration	6309	SC5D	OMIM:607330
HP:0003155	Elevated circulating alkaline phosphatase concentration	1441	CSF3R	OMIM:162830
HP:0003155	Elevated circulating alkaline phosphatase concentration	2859	GPR35	ORPHA:171
HP:0003155	Elevated circulating alkaline phosphatase concentration	10507	SEMA4D	ORPHA:171
HP:0003155	Elevated circulating alkaline phosphatase concentration	4485	MST1	ORPHA:171
HP:0003155	Elevated circulating alkaline phosphatase concentration	6925	TCF4	ORPHA:171
HP:0003155	Elevated circulating alkaline phosphatase concentration	4883	NPR3	OMIM:619543
HP:0003155	Elevated circulating alkaline phosphatase concentration	6569	SLC34A1	ORPHA:157215
HP:0003155	Elevated circulating alkaline phosphatase concentration	1758	DMP1	ORPHA:289176
HP:0003155	Elevated circulating alkaline phosphatase concentration	368	ABCC6	ORPHA:51608
HP:0003155	Elevated circulating alkaline phosphatase concentration	4882	NPR2	OMIM:615923
HP:0003155	Elevated circulating alkaline phosphatase concentration	1497	CTNS	ORPHA:411634
HP:0003155	Elevated circulating alkaline phosphatase concentration	84317	CCDC115	OMIM:616828
HP:0003155	Elevated circulating alkaline phosphatase concentration	2099	ESR1	ORPHA:785
HP:0002912	Methylmalonic acidemia	4552	MTRR	OMIM:236270
HP:0002912	Methylmalonic acidemia	197322	ACSF3	ORPHA:289504
HP:0002912	Methylmalonic acidemia	8802	SUCLG1	ORPHA:17
HP:0002912	Methylmalonic acidemia	8803	SUCLA2	OMIM:612073
HP:0002912	Methylmalonic acidemia	55788	LMBRD1	OMIM:277380
HP:0002912	Methylmalonic acidemia	25974	MMACHC	ORPHA:79282
HP:0002912	Methylmalonic acidemia	25974	MMACHC	OMIM:277400
HP:0002912	Methylmalonic acidemia	3054	HCFC1	OMIM:309541
HP:0002912	Methylmalonic acidemia	4329	ALDH6A1	OMIM:614105
HP:0002912	Methylmalonic acidemia	51293	CD320	OMIM:613646
HP:0002912	Methylmalonic acidemia	5826	ABCD4	OMIM:614857
HP:0002912	Methylmalonic acidemia	27249	MMADHC	OMIM:277410
HP:0002912	Methylmalonic acidemia	326625	MMAB	OMIM:251110
HP:0002912	Methylmalonic acidemia	4594	MMUT	OMIM:251000
HP:0002912	Methylmalonic acidemia	5052	PRDX1	OMIM:277400
HP:0002912	Methylmalonic acidemia	166785	MMAA	OMIM:251100
HP:0002913	Myoglobinuria	3033	HADH	OMIM:231530
HP:0002913	Myoglobinuria	3033	HADH	ORPHA:71212
HP:0002913	Myoglobinuria	5837	PYGM	OMIM:232600
HP:0002913	Myoglobinuria	5257	PHKB	ORPHA:79240
HP:0002913	Myoglobinuria	1376	CPT2	ORPHA:228302
HP:0002913	Myoglobinuria	1376	CPT2	ORPHA:228305
HP:0002913	Myoglobinuria	1376	CPT2	ORPHA:228308
HP:0002913	Myoglobinuria	1376	CPT2	OMIM:255110
HP:0002913	Myoglobinuria	3032	HADHB	OMIM:620300
HP:0002913	Myoglobinuria	779	CACNA1S	ORPHA:423
HP:0002913	Myoglobinuria	6261	RYR1	ORPHA:423
HP:0002913	Myoglobinuria	6261	RYR1	OMIM:145600
HP:0002913	Myoglobinuria	23479	ISCU	OMIM:255125
HP:0002913	Myoglobinuria	226	ALDOA	ORPHA:57
HP:0002913	Myoglobinuria	23175	LPIN1	OMIM:268200
HP:0002913	Myoglobinuria	112812	FDX2	OMIM:251900
HP:0002913	Myoglobinuria	5224	PGAM2	OMIM:261670
HP:0002913	Myoglobinuria	5256	PHKA2	ORPHA:264580
HP:0002913	Myoglobinuria	5261	PHKG2	ORPHA:264580
HP:0002913	Myoglobinuria	128989	TANGO2	OMIM:616878
HP:0002913	Myoglobinuria	90523	MLIP	OMIM:620138
HP:0002913	Myoglobinuria	3939	LDHA	OMIM:612933
HP:0002913	Myoglobinuria	6443	SGCB	ORPHA:119
HP:0002913	Myoglobinuria	5230	PGK1	ORPHA:713
HP:0002913	Myoglobinuria	3030	HADHA	OMIM:609015
HP:0002913	Myoglobinuria	5255	PHKA1	ORPHA:715
HP:0002913	Myoglobinuria	5260	PHKG1	ORPHA:715
HP:0002913	Myoglobinuria	1756	DMD	ORPHA:98895
HP:0002913	Myoglobinuria	203859	ANO5	ORPHA:206549
HP:0002913	Myoglobinuria	27235	COQ2	OMIM:607426
HP:0002913	Myoglobinuria	84033	OBSCN	ORPHA:99845
HP:0002913	Myoglobinuria	4512	MT-CO1	ORPHA:99845
HP:0002913	Myoglobinuria	4514	MT-CO3	ORPHA:99845
HP:0002913	Myoglobinuria	5213	PFKM	OMIM:232800
HP:0002913	Myoglobinuria	37	ACADVL	OMIM:201475
HP:0002913	Myoglobinuria	729920	CRPPA	ORPHA:352479
HP:0002913	Myoglobinuria	79147	FKRP	OMIM:607155
HP:0002914	Hyperchloriduria	6557	SLC12A1	OMIM:601678
HP:0002914	Hyperchloriduria	1187	CLCNKA	OMIM:613090
HP:0002914	Hyperchloriduria	1188	CLCNKB	OMIM:613090
HP:0002914	Hyperchloriduria	1188	CLCNKB	OMIM:607364
HP:0002914	Hyperchloriduria	7809	BSND	OMIM:602522
HP:0002914	Hyperchloriduria	3758	KCNJ1	OMIM:241200
HP:0003220	Abnormality of chromosome stability	472	ATM	ORPHA:100
HP:0003220	Abnormality of chromosome stability	6023	RMRP	ORPHA:175
HP:0003220	Abnormality of chromosome stability	2189	FANCG	OMIM:614082
HP:0003220	Abnormality of chromosome stability	2189	FANCG	ORPHA:84
HP:0003220	Abnormality of chromosome stability	2187	FANCB	OMIM:300514
HP:0003220	Abnormality of chromosome stability	2187	FANCB	ORPHA:84
HP:0003220	Abnormality of chromosome stability	29128	UHRF1	ORPHA:2268
HP:0003220	Abnormality of chromosome stability	3070	HELLS	ORPHA:2268
HP:0003220	Abnormality of chromosome stability	1789	DNMT3B	ORPHA:2268
HP:0003220	Abnormality of chromosome stability	83879	CDCA7	ORPHA:2268
HP:0003220	Abnormality of chromosome stability	9841	ZBTB24	ORPHA:2268
HP:0003220	Abnormality of chromosome stability	641	BLM	OMIM:210900
HP:0003220	Abnormality of chromosome stability	7518	XRCC4	ORPHA:99812
HP:0003220	Abnormality of chromosome stability	3981	LIG4	ORPHA:99812
HP:0003220	Abnormality of chromosome stability	4683	NBN	ORPHA:647
HP:0003220	Abnormality of chromosome stability	6948	TCN2	ORPHA:859
HP:0003220	Abnormality of chromosome stability	672	BRCA1	ORPHA:84
HP:0003220	Abnormality of chromosome stability	10459	MAD2L2	ORPHA:84
HP:0003220	Abnormality of chromosome stability	7516	XRCC2	ORPHA:84
HP:0003220	Abnormality of chromosome stability	29089	UBE2T	ORPHA:84
HP:0003220	Abnormality of chromosome stability	675	BRCA2	ORPHA:84
HP:0003220	Abnormality of chromosome stability	55120	FANCL	ORPHA:84
HP:0003220	Abnormality of chromosome stability	2177	FANCD2	ORPHA:84
HP:0003220	Abnormality of chromosome stability	2175	FANCA	ORPHA:84
HP:0003220	Abnormality of chromosome stability	2176	FANCC	ORPHA:84
HP:0003220	Abnormality of chromosome stability	2178	FANCE	ORPHA:84
HP:0003220	Abnormality of chromosome stability	2188	FANCF	ORPHA:84
HP:0003220	Abnormality of chromosome stability	5888	RAD51	ORPHA:84
HP:0003220	Abnormality of chromosome stability	5889	RAD51C	ORPHA:84
HP:0003220	Abnormality of chromosome stability	55159	RFWD3	ORPHA:84
HP:0003220	Abnormality of chromosome stability	83990	BRIP1	ORPHA:84
HP:0003220	Abnormality of chromosome stability	57697	FANCM	ORPHA:84
HP:0003220	Abnormality of chromosome stability	79728	PALB2	ORPHA:84
HP:0003220	Abnormality of chromosome stability	84464	SLX4	ORPHA:84
HP:0003220	Abnormality of chromosome stability	2072	ERCC4	ORPHA:84
HP:0003220	Abnormality of chromosome stability	55215	FANCI	ORPHA:84
HP:0003220	Abnormality of chromosome stability	338657	CENATAC	OMIM:620153
HP:0003220	Abnormality of chromosome stability	1327	COX4I1	OMIM:619060
HP:0003220	Abnormality of chromosome stability	64858	DCLRE1B	OMIM:620133
HP:0003220	Abnormality of chromosome stability	2332	FMR1	ORPHA:908
HP:0003220	Abnormality of chromosome stability	2332	FMR1	OMIM:300624
HP:0003220	Abnormality of chromosome stability	84548	TMEM185A	ORPHA:100974
HP:0003220	Abnormality of chromosome stability	10111	RAD50	OMIM:613078
HP:0003220	Abnormality of chromosome stability	8314	BAP1	ORPHA:2495
HP:0003220	Abnormality of chromosome stability	4771	NF2	ORPHA:2495
HP:0003220	Abnormality of chromosome stability	6598	SMARCB1	ORPHA:2495
HP:0003220	Abnormality of chromosome stability	5155	PDGFB	ORPHA:2495
HP:0003220	Abnormality of chromosome stability	84231	TRAF7	ORPHA:2495
HP:0003220	Abnormality of chromosome stability	6608	SMO	ORPHA:2495
HP:0003220	Abnormality of chromosome stability	207	AKT1	ORPHA:2495
HP:0003220	Abnormality of chromosome stability	5290	PIK3CA	ORPHA:2495
HP:0003220	Abnormality of chromosome stability	7015	TERT	ORPHA:2495
HP:0003220	Abnormality of chromosome stability	51684	SUFU	ORPHA:2495
HP:0003220	Abnormality of chromosome stability	6605	SMARCE1	ORPHA:2495
HP:0003220	Abnormality of chromosome stability	165918	RNF168	ORPHA:420741
HP:0003220	Abnormality of chromosome stability	7156	TOP3A	OMIM:618097
HP:0003220	Abnormality of chromosome stability	134218	DNAJC21	OMIM:617052
HP:0003220	Abnormality of chromosome stability	4173	MCM4	OMIM:609981
HP:0002916	Abnormality of chromosome segregation	140732	SUN5	ORPHA:529970
HP:0002916	Abnormality of chromosome segregation	83449	PMFBP1	ORPHA:529970
HP:0002916	Abnormality of chromosome segregation	4204	MECP2	ORPHA:1762
HP:0002916	Abnormality of chromosome segregation	6469	SHH	OMIM:147250
HP:0002916	Abnormality of chromosome segregation	3930	LBR	OMIM:169400
HP:0002916	Abnormality of chromosome segregation	2697	GJA1	ORPHA:2248
HP:0002916	Abnormality of chromosome segregation	1482	NKX2-5	ORPHA:2248
HP:0002916	Abnormality of chromosome segregation	10743	RAI1	ORPHA:1713
HP:0002916	Abnormality of chromosome segregation	10483	SEC23B	OMIM:224100
HP:0002916	Abnormality of chromosome segregation	146059	CDAN1	OMIM:224120
HP:0002916	Abnormality of chromosome segregation	157570	ESCO2	OMIM:268300
HP:0002916	Abnormality of chromosome segregation	7248	TSC1	OMIM:191100
HP:0002916	Abnormality of chromosome segregation	701	BUB1B	OMIM:176430
HP:0002916	Abnormality of chromosome segregation	701	BUB1B	OMIM:257300
HP:0002916	Abnormality of chromosome segregation	9319	TRIP13	OMIM:617598
HP:0002917	Hypomagnesemia	140803	TRPM6	OMIM:602014
HP:0002917	Hypomagnesemia	83483	PLVAP	OMIM:618183
HP:0002917	Hypomagnesemia	1497	CTNS	OMIM:219800
HP:0002917	Hypomagnesemia	7809	BSND	ORPHA:89938
HP:0002917	Hypomagnesemia	1188	CLCNKB	ORPHA:89938
HP:0002917	Hypomagnesemia	1188	CLCNKB	ORPHA:358
HP:0002917	Hypomagnesemia	1187	CLCNKA	ORPHA:89938
HP:0002917	Hypomagnesemia	486	FXYD2	OMIM:154020
HP:0002917	Hypomagnesemia	6905	TBCE	OMIM:244460
HP:0002917	Hypomagnesemia	1621	DBH	OMIM:223360
HP:0002917	Hypomagnesemia	3766	KCNJ10	OMIM:612780
HP:0002917	Hypomagnesemia	3766	KCNJ10	ORPHA:199343
HP:0002917	Hypomagnesemia	476	ATP1A1	ORPHA:564178
HP:0002917	Hypomagnesemia	476	ATP1A1	OMIM:618314
HP:0002917	Hypomagnesemia	50943	FOXP3	ORPHA:37042
HP:0002917	Hypomagnesemia	2767	GNA11	ORPHA:428
HP:0002917	Hypomagnesemia	846	CASR	ORPHA:428
HP:0002917	Hypomagnesemia	846	CASR	OMIM:601198
HP:0002917	Hypomagnesemia	100134444	KCNJ18	ORPHA:79102
HP:0002917	Hypomagnesemia	2556	GABRA3	ORPHA:79102
HP:0002917	Hypomagnesemia	779	CACNA1S	ORPHA:79102
HP:0002917	Hypomagnesemia	1950	EGF	OMIM:611718
HP:0002917	Hypomagnesemia	9247	GCM2	ORPHA:2239
HP:0002917	Hypomagnesemia	6557	SLC12A1	OMIM:601678
HP:0002917	Hypomagnesemia	5442	POLRMT	OMIM:619743
HP:0002917	Hypomagnesemia	3758	KCNJ1	OMIM:241200
HP:0002917	Hypomagnesemia	54805	CNNM2	OMIM:613882
HP:0002917	Hypomagnesemia	54805	CNNM2	OMIM:616418
HP:0002917	Hypomagnesemia	149461	CLDN19	OMIM:248190
HP:0002917	Hypomagnesemia	10686	CLDN16	OMIM:248250
HP:0002917	Hypomagnesemia	6559	SLC12A3	OMIM:263800
HP:0002917	Hypomagnesemia	6559	SLC12A3	ORPHA:358
HP:0002917	Hypomagnesemia	2783	GNB2	OMIM:619503
HP:0002917	Hypomagnesemia	54938	SARS2	OMIM:613845
HP:0002917	Hypomagnesemia	7074	TIAM1	OMIM:619908
HP:0002917	Hypomagnesemia	5092	PCBD1	ORPHA:1578
HP:0002917	Hypomagnesemia	58528	RRAGD	OMIM:620152
HP:0002918	Hypermagnesemia	846	CASR	OMIM:145980
HP:0002918	Hypermagnesemia	2767	GNA11	OMIM:145981
HP:0002918	Hypermagnesemia	1175	AP2S1	OMIM:600740
HP:0002918	Hypermagnesemia	9071	CLDN10	OMIM:617671
HP:0002918	Hypermagnesemia	1188	CLCNKB	ORPHA:358
HP:0002918	Hypermagnesemia	6559	SLC12A3	ORPHA:358
HP:0002918	Hypermagnesemia	229	ALDOB	ORPHA:469
HP:0002919	Ketonuria	38	ACAT1	ORPHA:134
HP:0002919	Ketonuria	84987	COX14	OMIM:619053
HP:0002919	Ketonuria	10128	LRPPRC	OMIM:220111
HP:0002919	Ketonuria	3155	HMGCL	ORPHA:20
HP:0002919	Ketonuria	3155	HMGCL	OMIM:246450
HP:0002919	Ketonuria	51241	COX16	OMIM:619355
HP:0002919	Ketonuria	5105	PCK1	OMIM:261680
HP:0002919	Ketonuria	1537	CYC1	OMIM:615453
HP:0002919	Ketonuria	763	CA5A	OMIM:615751
HP:0002919	Ketonuria	1374	CPT1A	OMIM:255120
HP:0002919	Ketonuria	5078	PAX4	OMIM:612225
HP:0002919	Ketonuria	25974	MMACHC	ORPHA:79282
HP:0002919	Ketonuria	5019	OXCT1	OMIM:245050
HP:0002919	Ketonuria	64087	MCCC2	OMIM:210210
HP:0002919	Ketonuria	84693	MCEE	OMIM:251120
HP:0002919	Ketonuria	128989	TANGO2	ORPHA:480864
HP:0002919	Ketonuria	128989	TANGO2	OMIM:616878
HP:0002919	Ketonuria	3767	KCNJ11	ORPHA:79644
HP:0002919	Ketonuria	3767	KCNJ11	ORPHA:99885
HP:0002919	Ketonuria	2639	GCDH	OMIM:231670
HP:0002919	Ketonuria	166785	MMAA	OMIM:251100
HP:0002919	Ketonuria	79783	SUGCT	ORPHA:35706
HP:0002919	Ketonuria	3158	HMGCS2	OMIM:605911
HP:0002919	Ketonuria	112812	FDX2	OMIM:251900
HP:0002919	Ketonuria	3712	IVD	ORPHA:33
HP:0002919	Ketonuria	6514	SLC2A2	OMIM:227810
HP:0002919	Ketonuria	1594	CYP27B1	OMIM:264700
HP:0002919	Ketonuria	6566	SLC16A1	OMIM:616095
HP:0002919	Ketonuria	6392	SDHD	OMIM:619167
HP:0002919	Ketonuria	6833	ABCC8	OMIM:618857
HP:0002919	Ketonuria	6833	ABCC8	ORPHA:99885
HP:0002919	Ketonuria	132001	TAMM41	OMIM:620139
HP:0002919	Ketonuria	2998	GYS2	ORPHA:2089
HP:0002919	Ketonuria	56922	MCCC1	OMIM:210200
HP:0002919	Ketonuria	10165	SLC25A13	ORPHA:247598
HP:0002919	Ketonuria	326625	MMAB	OMIM:251110
HP:0002919	Ketonuria	6774	STAT3	ORPHA:99885
HP:0002919	Ketonuria	2645	GCK	ORPHA:99885
HP:0002919	Ketonuria	3651	PDX1	ORPHA:99885
HP:0002919	Ketonuria	3630	INS	ORPHA:99885
HP:0002919	Ketonuria	3954	LETM1	OMIM:620089
HP:0002920	Decreased circulating ACTH concentration	5626	PROP1	ORPHA:95494
HP:0002920	Decreased circulating ACTH concentration	5626	PROP1	ORPHA:226307
HP:0002920	Decreased circulating ACTH concentration	5626	PROP1	ORPHA:90695
HP:0002920	Decreased circulating ACTH concentration	2736	GLI2	ORPHA:95494
HP:0002920	Decreased circulating ACTH concentration	89884	LHX4	ORPHA:95494
HP:0002920	Decreased circulating ACTH concentration	89884	LHX4	ORPHA:226307
HP:0002920	Decreased circulating ACTH concentration	3170	FOXA2	ORPHA:95494
HP:0002920	Decreased circulating ACTH concentration	5449	POU1F1	ORPHA:95494
HP:0002920	Decreased circulating ACTH concentration	5449	POU1F1	ORPHA:226307
HP:0002920	Decreased circulating ACTH concentration	8820	HESX1	ORPHA:95494
HP:0002920	Decreased circulating ACTH concentration	8820	HESX1	ORPHA:226307
HP:0002920	Decreased circulating ACTH concentration	5015	OTX2	ORPHA:95494
HP:0002920	Decreased circulating ACTH concentration	5015	OTX2	OMIM:613986
HP:0002920	Decreased circulating ACTH concentration	4791	NFKB2	ORPHA:293978
HP:0002920	Decreased circulating ACTH concentration	64072	CDH23	ORPHA:91347
HP:0002920	Decreased circulating ACTH concentration	64072	CDH23	ORPHA:2965
HP:0002920	Decreased circulating ACTH concentration	8022	LHX3	ORPHA:226307
HP:0002920	Decreased circulating ACTH concentration	4221	MEN1	ORPHA:2965
HP:0002920	Decreased circulating ACTH concentration	9049	AIP	ORPHA:2965
HP:0002920	Decreased circulating ACTH concentration	79798	ARMC5	ORPHA:189427
HP:0002920	Decreased circulating ACTH concentration	79798	ARMC5	OMIM:615954
HP:0002920	Decreased circulating ACTH concentration	23028	KDM1A	ORPHA:189427
HP:0002920	Decreased circulating ACTH concentration	2778	GNAS	ORPHA:189427
HP:0002920	Decreased circulating ACTH concentration	2778	GNAS	OMIM:219080
HP:0002920	Decreased circulating ACTH concentration	50940	PDE11A	OMIM:610475
HP:0002920	Decreased circulating ACTH concentration	6091	ROBO1	OMIM:620305
HP:0002920	Decreased circulating ACTH concentration	6091	ROBO1	OMIM:620303
HP:0002920	Decreased circulating ACTH concentration	8314	BAP1	ORPHA:2495
HP:0002920	Decreased circulating ACTH concentration	4771	NF2	ORPHA:2495
HP:0002920	Decreased circulating ACTH concentration	6598	SMARCB1	ORPHA:2495
HP:0002920	Decreased circulating ACTH concentration	5155	PDGFB	ORPHA:2495
HP:0002920	Decreased circulating ACTH concentration	84231	TRAF7	ORPHA:2495
HP:0002920	Decreased circulating ACTH concentration	6608	SMO	ORPHA:2495
HP:0002920	Decreased circulating ACTH concentration	207	AKT1	ORPHA:2495
HP:0002920	Decreased circulating ACTH concentration	5290	PIK3CA	ORPHA:2495
HP:0002920	Decreased circulating ACTH concentration	7015	TERT	ORPHA:2495
HP:0002920	Decreased circulating ACTH concentration	51684	SUFU	ORPHA:2495
HP:0002920	Decreased circulating ACTH concentration	6605	SMARCE1	ORPHA:2495
HP:0002920	Decreased circulating ACTH concentration	5573	PRKAR1A	OMIM:610489
HP:0002920	Decreased circulating ACTH concentration	6658	SOX3	ORPHA:90695
HP:0002921	Abnormal cerebrospinal fluid morphology	1718	DHCR24	OMIM:602398
HP:0002921	Abnormal cerebrospinal fluid morphology	1718	DHCR24	ORPHA:35107
HP:0002921	Abnormal cerebrospinal fluid morphology	29899	GPSM2	OMIM:604213
HP:0002921	Abnormal cerebrospinal fluid morphology	2218	FKTN	ORPHA:272
HP:0002921	Abnormal cerebrospinal fluid morphology	2218	FKTN	ORPHA:588
HP:0002921	Abnormal cerebrospinal fluid morphology	2218	FKTN	OMIM:236670
HP:0002921	Abnormal cerebrospinal fluid morphology	2218	FKTN	ORPHA:899
HP:0002921	Abnormal cerebrospinal fluid morphology	2218	FKTN	OMIM:253800
HP:0002921	Abnormal cerebrospinal fluid morphology	4524	MTHFR	ORPHA:395
HP:0002921	Abnormal cerebrospinal fluid morphology	26235	FBXL4	OMIM:615471
HP:0002921	Abnormal cerebrospinal fluid morphology	51256	TBC1D7	OMIM:248000
HP:0002921	Abnormal cerebrospinal fluid morphology	8294	H4C9	OMIM:619951
HP:0002921	Abnormal cerebrospinal fluid morphology	6873	TAF2	OMIM:615599
HP:0002921	Abnormal cerebrospinal fluid morphology	6873	TAF2	ORPHA:397951
HP:0002921	Abnormal cerebrospinal fluid morphology	4897	NRCAM	OMIM:619833
HP:0002921	Abnormal cerebrospinal fluid morphology	2261	FGFR3	ORPHA:53271
HP:0002921	Abnormal cerebrospinal fluid morphology	2261	FGFR3	ORPHA:1860
HP:0002921	Abnormal cerebrospinal fluid morphology	2261	FGFR3	OMIM:616482
HP:0002921	Abnormal cerebrospinal fluid morphology	2261	FGFR3	ORPHA:15
HP:0002921	Abnormal cerebrospinal fluid morphology	2261	FGFR3	ORPHA:93274
HP:0002921	Abnormal cerebrospinal fluid morphology	2261	FGFR3	ORPHA:93262
HP:0002921	Abnormal cerebrospinal fluid morphology	2261	FGFR3	OMIM:100800
HP:0002921	Abnormal cerebrospinal fluid morphology	2261	FGFR3	OMIM:187600
HP:0002921	Abnormal cerebrospinal fluid morphology	2261	FGFR3	OMIM:612247
HP:0002921	Abnormal cerebrospinal fluid morphology	2737	GLI3	ORPHA:380
HP:0002921	Abnormal cerebrospinal fluid morphology	2737	GLI3	OMIM:175700
HP:0002921	Abnormal cerebrospinal fluid morphology	1630	DCC	OMIM:617542
HP:0002921	Abnormal cerebrospinal fluid morphology	23322	RPGRIP1L	ORPHA:220497
HP:0002921	Abnormal cerebrospinal fluid morphology	23322	RPGRIP1L	ORPHA:564
HP:0002921	Abnormal cerebrospinal fluid morphology	23322	RPGRIP1L	ORPHA:1454
HP:0002921	Abnormal cerebrospinal fluid morphology	4867	NPHP1	ORPHA:220497
HP:0002921	Abnormal cerebrospinal fluid morphology	65062	TMEM237	ORPHA:220497
HP:0002921	Abnormal cerebrospinal fluid morphology	65062	TMEM237	ORPHA:475
HP:0002921	Abnormal cerebrospinal fluid morphology	65062	TMEM237	ORPHA:564
HP:0002921	Abnormal cerebrospinal fluid morphology	65062	TMEM237	OMIM:614424
HP:0002921	Abnormal cerebrospinal fluid morphology	65062	TMEM237	ORPHA:2318
HP:0002921	Abnormal cerebrospinal fluid morphology	23426	GRIP1	OMIM:617667
HP:0002921	Abnormal cerebrospinal fluid morphology	2670	GFAP	OMIM:203450
HP:0002921	Abnormal cerebrospinal fluid morphology	2670	GFAP	ORPHA:363717
HP:0002921	Abnormal cerebrospinal fluid morphology	54806	AHI1	ORPHA:220493
HP:0002921	Abnormal cerebrospinal fluid morphology	54806	AHI1	ORPHA:475
HP:0002921	Abnormal cerebrospinal fluid morphology	56623	INPP5E	ORPHA:220493
HP:0002921	Abnormal cerebrospinal fluid morphology	56623	INPP5E	ORPHA:475
HP:0002921	Abnormal cerebrospinal fluid morphology	56623	INPP5E	ORPHA:1454
HP:0002921	Abnormal cerebrospinal fluid morphology	153241	CEP120	ORPHA:220493
HP:0002921	Abnormal cerebrospinal fluid morphology	153241	CEP120	ORPHA:475
HP:0002921	Abnormal cerebrospinal fluid morphology	54903	MKS1	ORPHA:220493
HP:0002921	Abnormal cerebrospinal fluid morphology	54903	MKS1	ORPHA:475
HP:0002921	Abnormal cerebrospinal fluid morphology	54903	MKS1	OMIM:249000
HP:0002921	Abnormal cerebrospinal fluid morphology	54903	MKS1	ORPHA:564
HP:0002921	Abnormal cerebrospinal fluid morphology	95681	CEP41	ORPHA:220493
HP:0002921	Abnormal cerebrospinal fluid morphology	95681	CEP41	ORPHA:475
HP:0002921	Abnormal cerebrospinal fluid morphology	5728	PTEN	ORPHA:2969
HP:0002921	Abnormal cerebrospinal fluid morphology	5728	PTEN	ORPHA:65285
HP:0002921	Abnormal cerebrospinal fluid morphology	84197	POMK	OMIM:615249
HP:0002921	Abnormal cerebrospinal fluid morphology	84197	POMK	ORPHA:899
HP:0002921	Abnormal cerebrospinal fluid morphology	84197	POMK	ORPHA:370959
HP:0002921	Abnormal cerebrospinal fluid morphology	55650	PIGV	OMIM:239300
HP:0002921	Abnormal cerebrospinal fluid morphology	65082	VPS33A	ORPHA:505248
HP:0002921	Abnormal cerebrospinal fluid morphology	284058	KANSL1	ORPHA:363958
HP:0002921	Abnormal cerebrospinal fluid morphology	284058	KANSL1	ORPHA:363965
HP:0002921	Abnormal cerebrospinal fluid morphology	25885	POLR1A	OMIM:616462
HP:0002921	Abnormal cerebrospinal fluid morphology	4853	NOTCH2	OMIM:102500
HP:0002921	Abnormal cerebrospinal fluid morphology	4853	NOTCH2	ORPHA:955
HP:0002921	Abnormal cerebrospinal fluid morphology	56172	ANKH	OMIM:123000
HP:0002921	Abnormal cerebrospinal fluid morphology	9968	MED12	ORPHA:93932
HP:0002921	Abnormal cerebrospinal fluid morphology	9968	MED12	OMIM:305450
HP:0002921	Abnormal cerebrospinal fluid morphology	9326	ZNHIT3	ORPHA:2836
HP:0002921	Abnormal cerebrospinal fluid morphology	3339	HSPG2	ORPHA:1865
HP:0002921	Abnormal cerebrospinal fluid morphology	9401	RECQL4	OMIM:218600
HP:0002921	Abnormal cerebrospinal fluid morphology	4763	NF1	ORPHA:363700
HP:0002921	Abnormal cerebrospinal fluid morphology	4763	NF1	OMIM:162200
HP:0002921	Abnormal cerebrospinal fluid morphology	5528	PPP2R5D	OMIM:616355
HP:0002921	Abnormal cerebrospinal fluid morphology	8036	SHOC2	ORPHA:2701
HP:0002921	Abnormal cerebrospinal fluid morphology	5500	PPP1CB	ORPHA:2701
HP:0002921	Abnormal cerebrospinal fluid morphology	28514	DLL1	ORPHA:93926
HP:0002921	Abnormal cerebrospinal fluid morphology	28514	DLL1	ORPHA:93924
HP:0002921	Abnormal cerebrospinal fluid morphology	28514	DLL1	ORPHA:93925
HP:0002921	Abnormal cerebrospinal fluid morphology	28514	DLL1	OMIM:618709
HP:0002921	Abnormal cerebrospinal fluid morphology	28514	DLL1	ORPHA:220386
HP:0002921	Abnormal cerebrospinal fluid morphology	2253	FGF8	ORPHA:93926
HP:0002921	Abnormal cerebrospinal fluid morphology	2253	FGF8	ORPHA:93924
HP:0002921	Abnormal cerebrospinal fluid morphology	2253	FGF8	ORPHA:93925
HP:0002921	Abnormal cerebrospinal fluid morphology	2253	FGF8	ORPHA:220386
HP:0002921	Abnormal cerebrospinal fluid morphology	6496	SIX3	ORPHA:93926
HP:0002921	Abnormal cerebrospinal fluid morphology	6496	SIX3	ORPHA:93924
HP:0002921	Abnormal cerebrospinal fluid morphology	6496	SIX3	ORPHA:93925
HP:0002921	Abnormal cerebrospinal fluid morphology	6496	SIX3	ORPHA:220386
HP:0002921	Abnormal cerebrospinal fluid morphology	7050	TGIF1	ORPHA:93926
HP:0002921	Abnormal cerebrospinal fluid morphology	7050	TGIF1	ORPHA:93924
HP:0002921	Abnormal cerebrospinal fluid morphology	7050	TGIF1	ORPHA:93925
HP:0002921	Abnormal cerebrospinal fluid morphology	7050	TGIF1	ORPHA:220386
HP:0002921	Abnormal cerebrospinal fluid morphology	4838	NODAL	ORPHA:93926
HP:0002921	Abnormal cerebrospinal fluid morphology	4838	NODAL	ORPHA:93924
HP:0002921	Abnormal cerebrospinal fluid morphology	4838	NODAL	ORPHA:93925
HP:0002921	Abnormal cerebrospinal fluid morphology	4838	NODAL	ORPHA:220386
HP:0002921	Abnormal cerebrospinal fluid morphology	6469	SHH	ORPHA:93926
HP:0002921	Abnormal cerebrospinal fluid morphology	6469	SHH	ORPHA:93924
HP:0002921	Abnormal cerebrospinal fluid morphology	6469	SHH	ORPHA:93925
HP:0002921	Abnormal cerebrospinal fluid morphology	6469	SHH	ORPHA:220386
HP:0002921	Abnormal cerebrospinal fluid morphology	7546	ZIC2	ORPHA:93926
HP:0002921	Abnormal cerebrospinal fluid morphology	7546	ZIC2	ORPHA:93924
HP:0002921	Abnormal cerebrospinal fluid morphology	7546	ZIC2	ORPHA:93925
HP:0002921	Abnormal cerebrospinal fluid morphology	7546	ZIC2	OMIM:609637
HP:0002921	Abnormal cerebrospinal fluid morphology	7546	ZIC2	ORPHA:220386
HP:0002921	Abnormal cerebrospinal fluid morphology	6491	STIL	ORPHA:93926
HP:0002921	Abnormal cerebrospinal fluid morphology	6491	STIL	ORPHA:93924
HP:0002921	Abnormal cerebrospinal fluid morphology	6491	STIL	ORPHA:93925
HP:0002921	Abnormal cerebrospinal fluid morphology	6491	STIL	ORPHA:220386
HP:0002921	Abnormal cerebrospinal fluid morphology	2619	GAS1	ORPHA:93926
HP:0002921	Abnormal cerebrospinal fluid morphology	2619	GAS1	ORPHA:93924
HP:0002921	Abnormal cerebrospinal fluid morphology	2619	GAS1	ORPHA:93925
HP:0002921	Abnormal cerebrospinal fluid morphology	2619	GAS1	ORPHA:220386
HP:0002921	Abnormal cerebrospinal fluid morphology	84976	DISP1	ORPHA:93926
HP:0002921	Abnormal cerebrospinal fluid morphology	84976	DISP1	ORPHA:93924
HP:0002921	Abnormal cerebrospinal fluid morphology	84976	DISP1	ORPHA:93925
HP:0002921	Abnormal cerebrospinal fluid morphology	84976	DISP1	ORPHA:220386
HP:0002921	Abnormal cerebrospinal fluid morphology	2736	GLI2	ORPHA:93926
HP:0002921	Abnormal cerebrospinal fluid morphology	2736	GLI2	ORPHA:93924
HP:0002921	Abnormal cerebrospinal fluid morphology	2736	GLI2	ORPHA:93925
HP:0002921	Abnormal cerebrospinal fluid morphology	2736	GLI2	OMIM:610829
HP:0002921	Abnormal cerebrospinal fluid morphology	2736	GLI2	ORPHA:220386
HP:0002921	Abnormal cerebrospinal fluid morphology	8928	FOXH1	ORPHA:93926
HP:0002921	Abnormal cerebrospinal fluid morphology	8928	FOXH1	ORPHA:93924
HP:0002921	Abnormal cerebrospinal fluid morphology	8928	FOXH1	ORPHA:93925
HP:0002921	Abnormal cerebrospinal fluid morphology	8928	FOXH1	ORPHA:220386
HP:0002921	Abnormal cerebrospinal fluid morphology	6997	CRIPTO	ORPHA:93926
HP:0002921	Abnormal cerebrospinal fluid morphology	6997	CRIPTO	ORPHA:93924
HP:0002921	Abnormal cerebrospinal fluid morphology	6997	CRIPTO	ORPHA:93925
HP:0002921	Abnormal cerebrospinal fluid morphology	6997	CRIPTO	ORPHA:220386
HP:0002921	Abnormal cerebrospinal fluid morphology	5727	PTCH1	ORPHA:93926
HP:0002921	Abnormal cerebrospinal fluid morphology	5727	PTCH1	ORPHA:93924
HP:0002921	Abnormal cerebrospinal fluid morphology	5727	PTCH1	ORPHA:93925
HP:0002921	Abnormal cerebrospinal fluid morphology	5727	PTCH1	OMIM:610828
HP:0002921	Abnormal cerebrospinal fluid morphology	5727	PTCH1	ORPHA:377
HP:0002921	Abnormal cerebrospinal fluid morphology	5727	PTCH1	OMIM:109400
HP:0002921	Abnormal cerebrospinal fluid morphology	5727	PTCH1	ORPHA:77301
HP:0002921	Abnormal cerebrospinal fluid morphology	5727	PTCH1	ORPHA:220386
HP:0002921	Abnormal cerebrospinal fluid morphology	50937	CDON	ORPHA:93926
HP:0002921	Abnormal cerebrospinal fluid morphology	50937	CDON	ORPHA:93924
HP:0002921	Abnormal cerebrospinal fluid morphology	50937	CDON	ORPHA:93925
HP:0002921	Abnormal cerebrospinal fluid morphology	50937	CDON	ORPHA:220386
HP:0002921	Abnormal cerebrospinal fluid morphology	2260	FGFR1	ORPHA:93924
HP:0002921	Abnormal cerebrospinal fluid morphology	2260	FGFR1	OMIM:101600
HP:0002921	Abnormal cerebrospinal fluid morphology	2260	FGFR1	OMIM:613001
HP:0002921	Abnormal cerebrospinal fluid morphology	2260	FGFR1	ORPHA:220386
HP:0002921	Abnormal cerebrospinal fluid morphology	23007	PLCH1	ORPHA:93925
HP:0002921	Abnormal cerebrospinal fluid morphology	23007	PLCH1	OMIM:619895
HP:0002921	Abnormal cerebrospinal fluid morphology	10735	STAG2	ORPHA:93925
HP:0002921	Abnormal cerebrospinal fluid morphology	10735	STAG2	ORPHA:220386
HP:0002921	Abnormal cerebrospinal fluid morphology	3039	HBA1	ORPHA:163596
HP:0002921	Abnormal cerebrospinal fluid morphology	3040	HBA2	ORPHA:163596
HP:0002921	Abnormal cerebrospinal fluid morphology	63901	FAM111A	OMIM:602361
HP:0002921	Abnormal cerebrospinal fluid morphology	2316	FLNA	ORPHA:90652
HP:0002921	Abnormal cerebrospinal fluid morphology	2316	FLNA	OMIM:304120
HP:0002921	Abnormal cerebrospinal fluid morphology	1499	CTNNB1	ORPHA:54595
HP:0002921	Abnormal cerebrospinal fluid morphology	673	BRAF	ORPHA:54595
HP:0002921	Abnormal cerebrospinal fluid morphology	673	BRAF	ORPHA:626
HP:0002921	Abnormal cerebrospinal fluid morphology	673	BRAF	OMIM:115150
HP:0002921	Abnormal cerebrospinal fluid morphology	673	BRAF	ORPHA:1340
HP:0002921	Abnormal cerebrospinal fluid morphology	9851	KIAA0753	ORPHA:475
HP:0002921	Abnormal cerebrospinal fluid morphology	5147	PDE6D	ORPHA:475
HP:0002921	Abnormal cerebrospinal fluid morphology	79600	TCTN1	ORPHA:475
HP:0002921	Abnormal cerebrospinal fluid morphology	79600	TCTN1	ORPHA:564
HP:0002921	Abnormal cerebrospinal fluid morphology	79848	CSPP1	ORPHA:475
HP:0002921	Abnormal cerebrospinal fluid morphology	79848	CSPP1	ORPHA:564
HP:0002921	Abnormal cerebrospinal fluid morphology	8481	OFD1	ORPHA:475
HP:0002921	Abnormal cerebrospinal fluid morphology	8481	OFD1	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	8481	OFD1	OMIM:311200
HP:0002921	Abnormal cerebrospinal fluid morphology	51684	SUFU	ORPHA:475
HP:0002921	Abnormal cerebrospinal fluid morphology	51684	SUFU	ORPHA:377
HP:0002921	Abnormal cerebrospinal fluid morphology	51684	SUFU	OMIM:620343
HP:0002921	Abnormal cerebrospinal fluid morphology	51684	SUFU	ORPHA:2495
HP:0002921	Abnormal cerebrospinal fluid morphology	65250	CPLANE1	ORPHA:475
HP:0002921	Abnormal cerebrospinal fluid morphology	91147	TMEM67	ORPHA:475
HP:0002921	Abnormal cerebrospinal fluid morphology	91147	TMEM67	ORPHA:564
HP:0002921	Abnormal cerebrospinal fluid morphology	91147	TMEM67	OMIM:607361
HP:0002921	Abnormal cerebrospinal fluid morphology	91147	TMEM67	ORPHA:1454
HP:0002921	Abnormal cerebrospinal fluid morphology	200894	ARL13B	ORPHA:475
HP:0002921	Abnormal cerebrospinal fluid morphology	9731	CEP104	ORPHA:475
HP:0002921	Abnormal cerebrospinal fluid morphology	219844	HYLS1	ORPHA:475
HP:0002921	Abnormal cerebrospinal fluid morphology	219844	HYLS1	ORPHA:2189
HP:0002921	Abnormal cerebrospinal fluid morphology	23247	KATNIP	ORPHA:475
HP:0002921	Abnormal cerebrospinal fluid morphology	219854	TMEM218	ORPHA:475
HP:0002921	Abnormal cerebrospinal fluid morphology	9786	KIAA0586	ORPHA:475
HP:0002921	Abnormal cerebrospinal fluid morphology	9786	KIAA0586	OMIM:616546
HP:0002921	Abnormal cerebrospinal fluid morphology	26123	TCTN3	ORPHA:475
HP:0002921	Abnormal cerebrospinal fluid morphology	26123	TCTN3	ORPHA:564
HP:0002921	Abnormal cerebrospinal fluid morphology	79867	TCTN2	ORPHA:475
HP:0002921	Abnormal cerebrospinal fluid morphology	79867	TCTN2	ORPHA:564
HP:0002921	Abnormal cerebrospinal fluid morphology	80776	B9D2	ORPHA:475
HP:0002921	Abnormal cerebrospinal fluid morphology	80776	B9D2	ORPHA:564
HP:0002921	Abnormal cerebrospinal fluid morphology	10464	PIBF1	ORPHA:475
HP:0002921	Abnormal cerebrospinal fluid morphology	80210	ARMC9	ORPHA:475
HP:0002921	Abnormal cerebrospinal fluid morphology	23116	TOGARAM1	ORPHA:475
HP:0002921	Abnormal cerebrospinal fluid morphology	25776	CBY1	ORPHA:475
HP:0002921	Abnormal cerebrospinal fluid morphology	27077	B9D1	ORPHA:475
HP:0002921	Abnormal cerebrospinal fluid morphology	27077	B9D1	ORPHA:564
HP:0002921	Abnormal cerebrospinal fluid morphology	403	ARL3	ORPHA:475
HP:0002921	Abnormal cerebrospinal fluid morphology	80173	IFT74	ORPHA:475
HP:0002921	Abnormal cerebrospinal fluid morphology	3981	LIG4	ORPHA:235
HP:0002921	Abnormal cerebrospinal fluid morphology	54888	NSUN2	ORPHA:235
HP:0002921	Abnormal cerebrospinal fluid morphology	5518	PPP2R1A	OMIM:616362
HP:0002921	Abnormal cerebrospinal fluid morphology	5518	PPP2R1A	ORPHA:457284
HP:0002921	Abnormal cerebrospinal fluid morphology	7157	TP53	ORPHA:2807
HP:0002921	Abnormal cerebrospinal fluid morphology	7157	TP53	OMIM:260500
HP:0002921	Abnormal cerebrospinal fluid morphology	5034	P4HB	OMIM:112240
HP:0002921	Abnormal cerebrospinal fluid morphology	55621	TRMT1	OMIM:618302
HP:0002921	Abnormal cerebrospinal fluid morphology	1182	CLCN3	OMIM:619512
HP:0002921	Abnormal cerebrospinal fluid morphology	54539	NDUFB11	OMIM:309801
HP:0002921	Abnormal cerebrospinal fluid morphology	54539	NDUFB11	ORPHA:2556
HP:0002921	Abnormal cerebrospinal fluid morphology	1349	COX7B	OMIM:309801
HP:0002921	Abnormal cerebrospinal fluid morphology	1349	COX7B	ORPHA:2556
HP:0002921	Abnormal cerebrospinal fluid morphology	3052	HCCS	OMIM:309801
HP:0002921	Abnormal cerebrospinal fluid morphology	3052	HCCS	ORPHA:2556
HP:0002921	Abnormal cerebrospinal fluid morphology	55699	IARS2	OMIM:616007
HP:0002921	Abnormal cerebrospinal fluid morphology	4613	MYCN	OMIM:620748
HP:0002921	Abnormal cerebrospinal fluid morphology	148789	B3GALNT2	ORPHA:588
HP:0002921	Abnormal cerebrospinal fluid morphology	148789	B3GALNT2	OMIM:615181
HP:0002921	Abnormal cerebrospinal fluid morphology	148789	B3GALNT2	ORPHA:899
HP:0002921	Abnormal cerebrospinal fluid morphology	29925	GMPPB	ORPHA:588
HP:0002921	Abnormal cerebrospinal fluid morphology	29925	GMPPB	ORPHA:370959
HP:0002921	Abnormal cerebrospinal fluid morphology	79147	FKRP	ORPHA:588
HP:0002921	Abnormal cerebrospinal fluid morphology	79147	FKRP	OMIM:236670
HP:0002921	Abnormal cerebrospinal fluid morphology	79147	FKRP	ORPHA:899
HP:0002921	Abnormal cerebrospinal fluid morphology	79147	FKRP	ORPHA:370959
HP:0002921	Abnormal cerebrospinal fluid morphology	79147	FKRP	OMIM:613153
HP:0002921	Abnormal cerebrospinal fluid morphology	9215	LARGE1	ORPHA:588
HP:0002921	Abnormal cerebrospinal fluid morphology	9215	LARGE1	OMIM:236670
HP:0002921	Abnormal cerebrospinal fluid morphology	9215	LARGE1	ORPHA:899
HP:0002921	Abnormal cerebrospinal fluid morphology	9215	LARGE1	OMIM:613154
HP:0002921	Abnormal cerebrospinal fluid morphology	29954	POMT2	ORPHA:588
HP:0002921	Abnormal cerebrospinal fluid morphology	29954	POMT2	OMIM:236670
HP:0002921	Abnormal cerebrospinal fluid morphology	29954	POMT2	ORPHA:899
HP:0002921	Abnormal cerebrospinal fluid morphology	29954	POMT2	ORPHA:370959
HP:0002921	Abnormal cerebrospinal fluid morphology	29954	POMT2	OMIM:613150
HP:0002921	Abnormal cerebrospinal fluid morphology	729920	CRPPA	ORPHA:588
HP:0002921	Abnormal cerebrospinal fluid morphology	729920	CRPPA	ORPHA:899
HP:0002921	Abnormal cerebrospinal fluid morphology	729920	CRPPA	OMIM:614643
HP:0002921	Abnormal cerebrospinal fluid morphology	55624	POMGNT1	ORPHA:588
HP:0002921	Abnormal cerebrospinal fluid morphology	55624	POMGNT1	ORPHA:899
HP:0002921	Abnormal cerebrospinal fluid morphology	55624	POMGNT1	ORPHA:370959
HP:0002921	Abnormal cerebrospinal fluid morphology	55624	POMGNT1	OMIM:253280
HP:0002921	Abnormal cerebrospinal fluid morphology	10585	POMT1	ORPHA:588
HP:0002921	Abnormal cerebrospinal fluid morphology	10585	POMT1	OMIM:236670
HP:0002921	Abnormal cerebrospinal fluid morphology	10585	POMT1	ORPHA:899
HP:0002921	Abnormal cerebrospinal fluid morphology	10585	POMT1	ORPHA:370959
HP:0002921	Abnormal cerebrospinal fluid morphology	10585	POMT1	OMIM:613155
HP:0002921	Abnormal cerebrospinal fluid morphology	285362	SUMF1	OMIM:272200
HP:0002921	Abnormal cerebrospinal fluid morphology	285362	SUMF1	ORPHA:585
HP:0002921	Abnormal cerebrospinal fluid morphology	7547	ZIC3	OMIM:314390
HP:0002921	Abnormal cerebrospinal fluid morphology	7547	ZIC3	OMIM:306955
HP:0002921	Abnormal cerebrospinal fluid morphology	2187	FANCB	OMIM:314390
HP:0002921	Abnormal cerebrospinal fluid morphology	2187	FANCB	OMIM:300514
HP:0002921	Abnormal cerebrospinal fluid morphology	2187	FANCB	ORPHA:84
HP:0002921	Abnormal cerebrospinal fluid morphology	2187	FANCB	ORPHA:3412
HP:0002921	Abnormal cerebrospinal fluid morphology	30813	VSX1	OMIM:614195
HP:0002921	Abnormal cerebrospinal fluid morphology	11041	B4GAT1	OMIM:615287
HP:0002921	Abnormal cerebrospinal fluid morphology	11041	B4GAT1	ORPHA:899
HP:0002921	Abnormal cerebrospinal fluid morphology	2263	FGFR2	OMIM:123790
HP:0002921	Abnormal cerebrospinal fluid morphology	2263	FGFR2	OMIM:101200
HP:0002921	Abnormal cerebrospinal fluid morphology	2263	FGFR2	OMIM:123500
HP:0002921	Abnormal cerebrospinal fluid morphology	2263	FGFR2	ORPHA:207
HP:0002921	Abnormal cerebrospinal fluid morphology	2263	FGFR2	OMIM:101600
HP:0002921	Abnormal cerebrospinal fluid morphology	2263	FGFR2	ORPHA:87
HP:0002921	Abnormal cerebrospinal fluid morphology	2263	FGFR2	ORPHA:93259
HP:0002921	Abnormal cerebrospinal fluid morphology	2263	FGFR2	OMIM:207410
HP:0002921	Abnormal cerebrospinal fluid morphology	2263	FGFR2	ORPHA:1555
HP:0002921	Abnormal cerebrospinal fluid morphology	2683	B4GALT1	ORPHA:79332
HP:0002921	Abnormal cerebrospinal fluid morphology	2683	B4GALT1	OMIM:607091
HP:0002921	Abnormal cerebrospinal fluid morphology	8643	PTCH2	ORPHA:377
HP:0002921	Abnormal cerebrospinal fluid morphology	54941	RNF125	OMIM:616260
HP:0002921	Abnormal cerebrospinal fluid morphology	55120	FANCL	OMIM:614083
HP:0002921	Abnormal cerebrospinal fluid morphology	55120	FANCL	ORPHA:84
HP:0002921	Abnormal cerebrospinal fluid morphology	79989	IFT56	OMIM:619534
HP:0002921	Abnormal cerebrospinal fluid morphology	3423	IDS	OMIM:309900
HP:0002921	Abnormal cerebrospinal fluid morphology	284111	SLC13A5	ORPHA:1946
HP:0002921	Abnormal cerebrospinal fluid morphology	79641	ROGDI	ORPHA:1946
HP:0002921	Abnormal cerebrospinal fluid morphology	286204	CRB2	OMIM:219730
HP:0002921	Abnormal cerebrospinal fluid morphology	25981	DNAH1	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	115948	ODAD3	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	54768	HYDIN	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	352909	DNAAF3	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	27148	STK36	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	51314	NME8	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	92749	DRC1	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	54970	TTC12	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	152110	NEK10	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	2302	FOXJ1	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	221421	RSPH9	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	85478	CCDC65	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	55036	CCDC40	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	51364	ZMYND10	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	64446	DNAI2	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	8382	NME5	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	6674	SPAG1	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	83544	DNAL1	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	89765	RSPH1	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	83538	ODAD4	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	200373	CFAP221	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	374407	DNAJB13	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	55172	DNAAF2	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	161582	DNAAF4	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	2622	GAS8	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	23639	DNAAF11	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	27019	DNAI1	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	345895	RSPH4A	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	54919	DNAAF5	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	6103	RPGR	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	85452	CFAP74	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	93233	ODAD1	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	55130	ODAD2	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	1767	DNAH5	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	83861	RSPH3	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	345643	MCIDAS	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	56683	CFAP298	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	79925	SPEF2	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	10309	CCNO	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	115399	LRRC56	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	139212	DNAAF6	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	123872	DNAAF1	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	85016	CFAP300	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	339829	CCDC39	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	8701	DNAH11	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	1770	DNAH9	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	246176	GAS2L2	ORPHA:244
HP:0002921	Abnormal cerebrospinal fluid morphology	81839	VANGL1	OMIM:600145
HP:0002921	Abnormal cerebrospinal fluid morphology	81839	VANGL1	OMIM:182940
HP:0002921	Abnormal cerebrospinal fluid morphology	3897	L1CAM	OMIM:304100
HP:0002921	Abnormal cerebrospinal fluid morphology	3897	L1CAM	OMIM:307000
HP:0002921	Abnormal cerebrospinal fluid morphology	3897	L1CAM	ORPHA:2182
HP:0002921	Abnormal cerebrospinal fluid morphology	3897	L1CAM	OMIM:303350
HP:0002921	Abnormal cerebrospinal fluid morphology	51645	PPIL1	OMIM:619301
HP:0002921	Abnormal cerebrospinal fluid morphology	51362	CDC40	OMIM:619302
HP:0002921	Abnormal cerebrospinal fluid morphology	5881	RAC3	OMIM:618577
HP:0002921	Abnormal cerebrospinal fluid morphology	133686	NADK2	OMIM:616034
HP:0002921	Abnormal cerebrospinal fluid morphology	5888	RAD51	OMIM:617244
HP:0002921	Abnormal cerebrospinal fluid morphology	5888	RAD51	ORPHA:84
HP:0002921	Abnormal cerebrospinal fluid morphology	7046	TGFBR1	OMIM:609192
HP:0002921	Abnormal cerebrospinal fluid morphology	835	CASP2	OMIM:620653
HP:0002921	Abnormal cerebrospinal fluid morphology	140679	SLC32A1	OMIM:620774
HP:0002921	Abnormal cerebrospinal fluid morphology	8905	AP1S2	OMIM:304340
HP:0002921	Abnormal cerebrospinal fluid morphology	8905	AP1S2	ORPHA:85335
HP:0002921	Abnormal cerebrospinal fluid morphology	1801	DPH1	ORPHA:459061
HP:0002921	Abnormal cerebrospinal fluid morphology	1802	DPH2	ORPHA:459061
HP:0002921	Abnormal cerebrospinal fluid morphology	3912	LAMB1	OMIM:615191
HP:0002921	Abnormal cerebrospinal fluid morphology	3912	LAMB1	ORPHA:352682
HP:0002921	Abnormal cerebrospinal fluid morphology	51422	PRKAG2	OMIM:261740
HP:0002921	Abnormal cerebrospinal fluid morphology	6091	ROBO1	OMIM:620305
HP:0002921	Abnormal cerebrospinal fluid morphology	51259	TMEM216	OMIM:608091
HP:0002921	Abnormal cerebrospinal fluid morphology	51259	TMEM216	ORPHA:564
HP:0002921	Abnormal cerebrospinal fluid morphology	51259	TMEM216	ORPHA:2318
HP:0002921	Abnormal cerebrospinal fluid morphology	84320	ACBD6	OMIM:620785
HP:0002921	Abnormal cerebrospinal fluid morphology	6347	CCL2	OMIM:182940
HP:0002921	Abnormal cerebrospinal fluid morphology	80199	FUZ	OMIM:182940
HP:0002921	Abnormal cerebrospinal fluid morphology	6862	TBXT	OMIM:182940
HP:0002921	Abnormal cerebrospinal fluid morphology	57216	VANGL2	OMIM:182940
HP:0002921	Abnormal cerebrospinal fluid morphology	10312	TCIRG1	ORPHA:667
HP:0002921	Abnormal cerebrospinal fluid morphology	10312	TCIRG1	OMIM:259700
HP:0002921	Abnormal cerebrospinal fluid morphology	1186	CLCN7	ORPHA:667
HP:0002921	Abnormal cerebrospinal fluid morphology	1186	CLCN7	ORPHA:53
HP:0002921	Abnormal cerebrospinal fluid morphology	29887	SNX10	ORPHA:667
HP:0002921	Abnormal cerebrospinal fluid morphology	8600	TNFSF11	ORPHA:667
HP:0002921	Abnormal cerebrospinal fluid morphology	8600	TNFSF11	OMIM:259710
HP:0002921	Abnormal cerebrospinal fluid morphology	128869	PIGU	OMIM:618590
HP:0002921	Abnormal cerebrospinal fluid morphology	4967	OGDH	ORPHA:31
HP:0002921	Abnormal cerebrospinal fluid morphology	6299	SALL1	OMIM:107480
HP:0002921	Abnormal cerebrospinal fluid morphology	1436	CSF1R	OMIM:618476
HP:0002921	Abnormal cerebrospinal fluid morphology	9871	SEC24D	OMIM:616294
HP:0002921	Abnormal cerebrospinal fluid morphology	79868	ALG13	OMIM:300884
HP:0002921	Abnormal cerebrospinal fluid morphology	8882	ZPR1	OMIM:619321
HP:0002921	Abnormal cerebrospinal fluid morphology	7248	TSC1	ORPHA:538
HP:0002921	Abnormal cerebrospinal fluid morphology	7249	TSC2	ORPHA:538
HP:0002921	Abnormal cerebrospinal fluid morphology	84892	POMGNT2	ORPHA:899
HP:0002921	Abnormal cerebrospinal fluid morphology	84892	POMGNT2	OMIM:614830
HP:0002921	Abnormal cerebrospinal fluid morphology	1282	COL4A1	ORPHA:899
HP:0002921	Abnormal cerebrospinal fluid morphology	1282	COL4A1	OMIM:175780
HP:0002921	Abnormal cerebrospinal fluid morphology	10329	RXYLT1	ORPHA:899
HP:0002921	Abnormal cerebrospinal fluid morphology	1605	DAG1	ORPHA:899
HP:0002921	Abnormal cerebrospinal fluid morphology	1605	DAG1	OMIM:616538
HP:0002921	Abnormal cerebrospinal fluid morphology	79068	FTO	OMIM:612938
HP:0002921	Abnormal cerebrospinal fluid morphology	56975	FAM20C	OMIM:259775
HP:0002921	Abnormal cerebrospinal fluid morphology	4784	NFIX	OMIM:602535
HP:0002921	Abnormal cerebrospinal fluid morphology	57551	TAOK1	OMIM:619575
HP:0002921	Abnormal cerebrospinal fluid morphology	340665	CYP26C1	ORPHA:398189
HP:0002921	Abnormal cerebrospinal fluid morphology	5831	PYCR1	OMIM:612940
HP:0002921	Abnormal cerebrospinal fluid morphology	2077	ERF	ORPHA:207
HP:0002921	Abnormal cerebrospinal fluid morphology	1312	COMT	ORPHA:567
HP:0002921	Abnormal cerebrospinal fluid morphology	221037	JMJD1C	ORPHA:567
HP:0002921	Abnormal cerebrospinal fluid morphology	2812	GP1BB	ORPHA:567
HP:0002921	Abnormal cerebrospinal fluid morphology	6239	RREB1	ORPHA:567
HP:0002921	Abnormal cerebrospinal fluid morphology	6899	TBX1	ORPHA:567
HP:0002921	Abnormal cerebrospinal fluid morphology	7290	HIRA	ORPHA:567
HP:0002921	Abnormal cerebrospinal fluid morphology	9632	SEC24C	ORPHA:567
HP:0002921	Abnormal cerebrospinal fluid morphology	7353	UFD1	ORPHA:567
HP:0002921	Abnormal cerebrospinal fluid morphology	421	ARVCF	ORPHA:567
HP:0002921	Abnormal cerebrospinal fluid morphology	84314	TMEM107	ORPHA:564
HP:0002921	Abnormal cerebrospinal fluid morphology	57096	RPGRIP1	ORPHA:564
HP:0002921	Abnormal cerebrospinal fluid morphology	80184	CEP290	ORPHA:564
HP:0002921	Abnormal cerebrospinal fluid morphology	80184	CEP290	OMIM:611134
HP:0002921	Abnormal cerebrospinal fluid morphology	80184	CEP290	ORPHA:2318
HP:0002921	Abnormal cerebrospinal fluid morphology	57545	CC2D2A	ORPHA:564
HP:0002921	Abnormal cerebrospinal fluid morphology	57545	CC2D2A	OMIM:619111
HP:0002921	Abnormal cerebrospinal fluid morphology	57545	CC2D2A	ORPHA:2318
HP:0002921	Abnormal cerebrospinal fluid morphology	57545	CC2D2A	ORPHA:1454
HP:0002921	Abnormal cerebrospinal fluid morphology	57545	CC2D2A	OMIM:612284
HP:0002921	Abnormal cerebrospinal fluid morphology	79583	TMEM231	ORPHA:564
HP:0002921	Abnormal cerebrospinal fluid morphology	79583	TMEM231	ORPHA:2318
HP:0002921	Abnormal cerebrospinal fluid morphology	79770	TXNDC15	ORPHA:564
HP:0002921	Abnormal cerebrospinal fluid morphology	23258	DENND5A	OMIM:617281
HP:0002921	Abnormal cerebrospinal fluid morphology	10013	HDAC6	OMIM:300863
HP:0002921	Abnormal cerebrospinal fluid morphology	10013	HDAC6	ORPHA:163966
HP:0002921	Abnormal cerebrospinal fluid morphology	2009	EML1	OMIM:600348
HP:0002921	Abnormal cerebrospinal fluid morphology	5573	PRKAR1A	OMIM:101800
HP:0002921	Abnormal cerebrospinal fluid morphology	84065	TMEM222	OMIM:619470
HP:0002921	Abnormal cerebrospinal fluid morphology	54809	SAMD9	OMIM:617053
HP:0002921	Abnormal cerebrospinal fluid morphology	145173	B3GLCT	OMIM:261540
HP:0002921	Abnormal cerebrospinal fluid morphology	145173	B3GLCT	ORPHA:709
HP:0002921	Abnormal cerebrospinal fluid morphology	6711	SPTBN1	OMIM:619475
HP:0002921	Abnormal cerebrospinal fluid morphology	6608	SMO	OMIM:241800
HP:0002921	Abnormal cerebrospinal fluid morphology	6608	SMO	ORPHA:2495
HP:0002921	Abnormal cerebrospinal fluid morphology	6660	SOX5	ORPHA:626
HP:0002921	Abnormal cerebrospinal fluid morphology	238	ALK	ORPHA:626
HP:0002921	Abnormal cerebrospinal fluid morphology	9839	ZEB2	ORPHA:626
HP:0002921	Abnormal cerebrospinal fluid morphology	4893	NRAS	ORPHA:626
HP:0002921	Abnormal cerebrospinal fluid morphology	4893	NRAS	OMIM:249400
HP:0002921	Abnormal cerebrospinal fluid morphology	5894	RAF1	ORPHA:626
HP:0002921	Abnormal cerebrospinal fluid morphology	4534	MTM1	OMIM:310400
HP:0002921	Abnormal cerebrospinal fluid morphology	10682	EBP	OMIM:300960
HP:0002921	Abnormal cerebrospinal fluid morphology	10682	EBP	ORPHA:401973
HP:0002921	Abnormal cerebrospinal fluid morphology	5290	PIK3CA	OMIM:602501
HP:0002921	Abnormal cerebrospinal fluid morphology	5290	PIK3CA	ORPHA:60040
HP:0002921	Abnormal cerebrospinal fluid morphology	5290	PIK3CA	ORPHA:2495
HP:0002921	Abnormal cerebrospinal fluid morphology	55640	FLVCR2	OMIM:225790
HP:0002921	Abnormal cerebrospinal fluid morphology	3516	RBPJ	ORPHA:974
HP:0002921	Abnormal cerebrospinal fluid morphology	4851	NOTCH1	ORPHA:974
HP:0002921	Abnormal cerebrospinal fluid morphology	57514	ARHGAP31	ORPHA:974
HP:0002921	Abnormal cerebrospinal fluid morphology	57572	DOCK6	ORPHA:974
HP:0002921	Abnormal cerebrospinal fluid morphology	57572	DOCK6	OMIM:614219
HP:0002921	Abnormal cerebrospinal fluid morphology	285203	EOGT	ORPHA:974
HP:0002921	Abnormal cerebrospinal fluid morphology	54567	DLL4	ORPHA:974
HP:0002921	Abnormal cerebrospinal fluid morphology	23387	SIK3	OMIM:618162
HP:0002921	Abnormal cerebrospinal fluid morphology	2177	FANCD2	OMIM:227646
HP:0002921	Abnormal cerebrospinal fluid morphology	2177	FANCD2	ORPHA:84
HP:0002921	Abnormal cerebrospinal fluid morphology	26137	ZBTB20	ORPHA:3042
HP:0002921	Abnormal cerebrospinal fluid morphology	55898	UNC45A	OMIM:619377
HP:0002921	Abnormal cerebrospinal fluid morphology	2629	GBA1	ORPHA:2072
HP:0002921	Abnormal cerebrospinal fluid morphology	2629	GBA1	OMIM:231005
HP:0002921	Abnormal cerebrospinal fluid morphology	2629	GBA1	ORPHA:85212
HP:0002921	Abnormal cerebrospinal fluid morphology	51360	MBTPS2	ORPHA:85284
HP:0002921	Abnormal cerebrospinal fluid morphology	2581	GALC	ORPHA:206436
HP:0002921	Abnormal cerebrospinal fluid morphology	2581	GALC	OMIM:245200
HP:0002921	Abnormal cerebrospinal fluid morphology	5660	PSAP	ORPHA:206436
HP:0002921	Abnormal cerebrospinal fluid morphology	1376	CPT2	ORPHA:228308
HP:0002921	Abnormal cerebrospinal fluid morphology	28952	CCDC22	ORPHA:7
HP:0002921	Abnormal cerebrospinal fluid morphology	57020	VPS35L	ORPHA:7
HP:0002921	Abnormal cerebrospinal fluid morphology	56896	DPYSL5	ORPHA:7
HP:0002921	Abnormal cerebrospinal fluid morphology	6913	TBX15	OMIM:260660
HP:0002921	Abnormal cerebrospinal fluid morphology	1496	CTNNA2	OMIM:618174
HP:0002921	Abnormal cerebrospinal fluid morphology	55315	SLC29A3	ORPHA:168569
HP:0002921	Abnormal cerebrospinal fluid morphology	374654	KIF7	ORPHA:2189
HP:0002921	Abnormal cerebrospinal fluid morphology	374654	KIF7	OMIM:614120
HP:0002921	Abnormal cerebrospinal fluid morphology	10535	RNASEH2A	OMIM:610333
HP:0002921	Abnormal cerebrospinal fluid morphology	4771	NF2	ORPHA:637
HP:0002921	Abnormal cerebrospinal fluid morphology	4771	NF2	ORPHA:2495
HP:0002921	Abnormal cerebrospinal fluid morphology	90952	ESAM	OMIM:620371
HP:0002921	Abnormal cerebrospinal fluid morphology	8085	KMT2D	OMIM:147920
HP:0002921	Abnormal cerebrospinal fluid morphology	8085	KMT2D	ORPHA:2322
HP:0002921	Abnormal cerebrospinal fluid morphology	7403	KDM6A	OMIM:147920
HP:0002921	Abnormal cerebrospinal fluid morphology	7403	KDM6A	ORPHA:2322
HP:0002921	Abnormal cerebrospinal fluid morphology	10262	SF3B4	OMIM:154400
HP:0002921	Abnormal cerebrospinal fluid morphology	894	CCND2	ORPHA:83473
HP:0002921	Abnormal cerebrospinal fluid morphology	894	CCND2	OMIM:615938
HP:0002921	Abnormal cerebrospinal fluid morphology	5296	PIK3R2	ORPHA:83473
HP:0002921	Abnormal cerebrospinal fluid morphology	5296	PIK3R2	OMIM:603387
HP:0002921	Abnormal cerebrospinal fluid morphology	10000	AKT3	ORPHA:83473
HP:0002921	Abnormal cerebrospinal fluid morphology	10000	AKT3	OMIM:615937
HP:0002921	Abnormal cerebrospinal fluid morphology	10992	SF3B2	OMIM:164210
HP:0002921	Abnormal cerebrospinal fluid morphology	80144	FRAS1	OMIM:219000
HP:0002921	Abnormal cerebrospinal fluid morphology	5447	POR	ORPHA:95699
HP:0002921	Abnormal cerebrospinal fluid morphology	5447	POR	OMIM:207410
HP:0002921	Abnormal cerebrospinal fluid morphology	501	ALDH7A1	OMIM:266100
HP:0002921	Abnormal cerebrospinal fluid morphology	4552	MTRR	ORPHA:2169
HP:0002921	Abnormal cerebrospinal fluid morphology	22858	CILK1	OMIM:612651
HP:0002921	Abnormal cerebrospinal fluid morphology	6662	SOX9	OMIM:114290
HP:0002921	Abnormal cerebrospinal fluid morphology	29072	SETD2	OMIM:620157
HP:0002921	Abnormal cerebrospinal fluid morphology	29072	SETD2	OMIM:620155
HP:0002921	Abnormal cerebrospinal fluid morphology	26153	KIF26A	OMIM:620156
HP:0002921	Abnormal cerebrospinal fluid morphology	8792	TNFRSF11A	OMIM:612301
HP:0002921	Abnormal cerebrospinal fluid morphology	93627	TBCK	OMIM:616900
HP:0002921	Abnormal cerebrospinal fluid morphology	114034	TOE1	OMIM:614969
HP:0002921	Abnormal cerebrospinal fluid morphology	672	BRCA1	ORPHA:84
HP:0002921	Abnormal cerebrospinal fluid morphology	10459	MAD2L2	ORPHA:84
HP:0002921	Abnormal cerebrospinal fluid morphology	7516	XRCC2	ORPHA:84
HP:0002921	Abnormal cerebrospinal fluid morphology	29089	UBE2T	ORPHA:84
HP:0002921	Abnormal cerebrospinal fluid morphology	675	BRCA2	ORPHA:84
HP:0002921	Abnormal cerebrospinal fluid morphology	2175	FANCA	ORPHA:84
HP:0002921	Abnormal cerebrospinal fluid morphology	2176	FANCC	ORPHA:84
HP:0002921	Abnormal cerebrospinal fluid morphology	2178	FANCE	ORPHA:84
HP:0002921	Abnormal cerebrospinal fluid morphology	2188	FANCF	ORPHA:84
HP:0002921	Abnormal cerebrospinal fluid morphology	2189	FANCG	ORPHA:84
HP:0002921	Abnormal cerebrospinal fluid morphology	5889	RAD51C	ORPHA:84
HP:0002921	Abnormal cerebrospinal fluid morphology	55159	RFWD3	ORPHA:84
HP:0002921	Abnormal cerebrospinal fluid morphology	83990	BRIP1	ORPHA:84
HP:0002921	Abnormal cerebrospinal fluid morphology	57697	FANCM	ORPHA:84
HP:0002921	Abnormal cerebrospinal fluid morphology	79728	PALB2	ORPHA:84
HP:0002921	Abnormal cerebrospinal fluid morphology	84464	SLX4	ORPHA:84
HP:0002921	Abnormal cerebrospinal fluid morphology	2072	ERCC4	ORPHA:84
HP:0002921	Abnormal cerebrospinal fluid morphology	2072	ERCC4	ORPHA:220295
HP:0002921	Abnormal cerebrospinal fluid morphology	55215	FANCI	ORPHA:84
HP:0002921	Abnormal cerebrospinal fluid morphology	83550	GPR101	ORPHA:963
HP:0002921	Abnormal cerebrospinal fluid morphology	9049	AIP	ORPHA:963
HP:0002921	Abnormal cerebrospinal fluid morphology	5340	PLG	ORPHA:722
HP:0002921	Abnormal cerebrospinal fluid morphology	5340	PLG	OMIM:217090
HP:0002921	Abnormal cerebrospinal fluid morphology	1717	DHCR7	OMIM:270400
HP:0002921	Abnormal cerebrospinal fluid morphology	9896	FIG4	ORPHA:3472
HP:0002921	Abnormal cerebrospinal fluid morphology	55697	VAC14	ORPHA:3472
HP:0002921	Abnormal cerebrospinal fluid morphology	3425	IDUA	OMIM:607014
HP:0002921	Abnormal cerebrospinal fluid morphology	3425	IDUA	ORPHA:93473
HP:0002921	Abnormal cerebrospinal fluid morphology	7468	NSD2	OMIM:194190
HP:0002921	Abnormal cerebrospinal fluid morphology	10815	CPLX1	OMIM:194190
HP:0002921	Abnormal cerebrospinal fluid morphology	1487	CTBP1	OMIM:194190
HP:0002921	Abnormal cerebrospinal fluid morphology	53834	FGFRL1	OMIM:194190
HP:0002921	Abnormal cerebrospinal fluid morphology	3954	LETM1	OMIM:194190
HP:0002921	Abnormal cerebrospinal fluid morphology	3265	HRAS	OMIM:218040
HP:0002921	Abnormal cerebrospinal fluid morphology	2200	FBN1	OMIM:616914
HP:0002921	Abnormal cerebrospinal fluid morphology	3192	HNRNPU	ORPHA:238769
HP:0002921	Abnormal cerebrospinal fluid morphology	4593	MUSK	OMIM:208150
HP:0002921	Abnormal cerebrospinal fluid morphology	5063	PAK3	OMIM:300558
HP:0002921	Abnormal cerebrospinal fluid morphology	64327	LMBR1	ORPHA:2378
HP:0002921	Abnormal cerebrospinal fluid morphology	4519	MT-CYB	ORPHA:137675
HP:0002921	Abnormal cerebrospinal fluid morphology	8314	BAP1	ORPHA:2495
HP:0002921	Abnormal cerebrospinal fluid morphology	6598	SMARCB1	ORPHA:2495
HP:0002921	Abnormal cerebrospinal fluid morphology	6598	SMARCB1	ORPHA:99966
HP:0002921	Abnormal cerebrospinal fluid morphology	5155	PDGFB	ORPHA:2495
HP:0002921	Abnormal cerebrospinal fluid morphology	84231	TRAF7	ORPHA:2495
HP:0002921	Abnormal cerebrospinal fluid morphology	207	AKT1	ORPHA:2495
HP:0002921	Abnormal cerebrospinal fluid morphology	7015	TERT	ORPHA:2495
HP:0002921	Abnormal cerebrospinal fluid morphology	6605	SMARCE1	ORPHA:2495
HP:0002921	Abnormal cerebrospinal fluid morphology	11128	POLR3A	OMIM:264090
HP:0002921	Abnormal cerebrospinal fluid morphology	11128	POLR3A	ORPHA:3455
HP:0002921	Abnormal cerebrospinal fluid morphology	4094	MAF	ORPHA:1272
HP:0002921	Abnormal cerebrospinal fluid morphology	2050	EPHB4	ORPHA:137667
HP:0002921	Abnormal cerebrospinal fluid morphology	5921	RASA1	ORPHA:137667
HP:0002921	Abnormal cerebrospinal fluid morphology	3662	IRF4	ORPHA:3452
HP:0002921	Abnormal cerebrospinal fluid morphology	6949	TCOF1	OMIM:154500
HP:0002921	Abnormal cerebrospinal fluid morphology	440193	CCDC88C	OMIM:236600
HP:0002921	Abnormal cerebrospinal fluid morphology	7048	TGFBR2	OMIM:610168
HP:0002921	Abnormal cerebrospinal fluid morphology	5824	PEX19	OMIM:614886
HP:0002921	Abnormal cerebrospinal fluid morphology	701	BUB1B	OMIM:257300
HP:0002921	Abnormal cerebrospinal fluid morphology	2776	GNAQ	ORPHA:3205
HP:0002921	Abnormal cerebrospinal fluid morphology	28962	OSTM1	OMIM:259720
HP:0002921	Abnormal cerebrospinal fluid morphology	157570	ESCO2	OMIM:268300
HP:0002921	Abnormal cerebrospinal fluid morphology	84667	HES7	OMIM:613686
HP:0002921	Abnormal cerebrospinal fluid morphology	51134	CEP83	OMIM:615862
HP:0002921	Abnormal cerebrospinal fluid morphology	2719	GPC3	OMIM:312870
HP:0002921	Abnormal cerebrospinal fluid morphology	2239	GPC4	OMIM:312870
HP:0002921	Abnormal cerebrospinal fluid morphology	63895	PIEZO2	ORPHA:2461
HP:0002921	Abnormal cerebrospinal fluid morphology	9927	MFN2	ORPHA:99947
HP:0002921	Abnormal cerebrospinal fluid morphology	579	NKX3-2	OMIM:613330
HP:0002921	Abnormal cerebrospinal fluid morphology	100151683	RNU4ATAC	OMIM:210710
HP:0002921	Abnormal cerebrospinal fluid morphology	26160	IFT172	OMIM:615630
HP:0002921	Abnormal cerebrospinal fluid morphology	7473	WNT3	ORPHA:3301
HP:0002921	Abnormal cerebrospinal fluid morphology	7473	WNT3	OMIM:273395
HP:0002921	Abnormal cerebrospinal fluid morphology	340419	RSPO2	ORPHA:3301
HP:0002921	Abnormal cerebrospinal fluid morphology	9496	TBX4	ORPHA:3301
HP:0002921	Abnormal cerebrospinal fluid morphology	411	ARSB	OMIM:253200
HP:0002921	Abnormal cerebrospinal fluid morphology	4854	NOTCH3	OMIM:130720
HP:0002921	Abnormal cerebrospinal fluid morphology	84162	BLTP1	OMIM:617822
HP:0002921	Abnormal cerebrospinal fluid morphology	4750	NEK1	OMIM:252100
HP:0002921	Abnormal cerebrospinal fluid morphology	6657	SOX2	ORPHA:77298
HP:0002921	Abnormal cerebrospinal fluid morphology	5604	MAP2K1	ORPHA:1340
HP:0002921	Abnormal cerebrospinal fluid morphology	5605	MAP2K2	ORPHA:1340
HP:0002921	Abnormal cerebrospinal fluid morphology	3845	KRAS	ORPHA:1340
HP:0002921	Abnormal cerebrospinal fluid morphology	1063	CENPF	OMIM:243605
HP:0002921	Abnormal cerebrospinal fluid morphology	51524	TMEM138	ORPHA:2318
HP:0002921	Abnormal cerebrospinal fluid morphology	23090	ZNF423	ORPHA:2318
HP:0002921	Abnormal cerebrospinal fluid morphology	64093	SMOC1	ORPHA:1106
HP:0002921	Abnormal cerebrospinal fluid morphology	57511	COG6	OMIM:614576
HP:0002921	Abnormal cerebrospinal fluid morphology	124997	WDR81	OMIM:617967
HP:0002921	Abnormal cerebrospinal fluid morphology	80781	COL18A1	ORPHA:1571
HP:0002921	Abnormal cerebrospinal fluid morphology	5062	PAK2	ORPHA:1571
HP:0002921	Abnormal cerebrospinal fluid morphology	4758	NEU1	ORPHA:93400
HP:0002921	Abnormal cerebrospinal fluid morphology	64840	PORCN	OMIM:305600
HP:0002921	Abnormal cerebrospinal fluid morphology	7874	USP7	ORPHA:500055
HP:0002921	Abnormal cerebrospinal fluid morphology	9791	PTDSS1	ORPHA:2658
HP:0002921	Abnormal cerebrospinal fluid morphology	29957	SLC25A24	OMIM:612289
HP:0002921	Abnormal cerebrospinal fluid morphology	23040	MYT1L	OMIM:616521
HP:0002921	Abnormal cerebrospinal fluid morphology	7305	TYROBP	ORPHA:2770
HP:0002921	Abnormal cerebrospinal fluid morphology	54209	TREM2	ORPHA:2770
HP:0002921	Abnormal cerebrospinal fluid morphology	112752	IFT43	OMIM:617866
HP:0002921	Abnormal cerebrospinal fluid morphology	3110	MNX1	ORPHA:1552
HP:0002921	Abnormal cerebrospinal fluid morphology	2068	ERCC2	ORPHA:220295
HP:0002921	Abnormal cerebrospinal fluid morphology	2073	ERCC5	ORPHA:220295
HP:0002921	Abnormal cerebrospinal fluid morphology	2071	ERCC3	ORPHA:220295
HP:0002921	Abnormal cerebrospinal fluid morphology	139285	AMER1	OMIM:300373
HP:0002921	Abnormal cerebrospinal fluid morphology	6497	SKI	OMIM:182212
HP:0002921	Abnormal cerebrospinal fluid morphology	126792	B3GALT6	ORPHA:536467
HP:0002921	Abnormal cerebrospinal fluid morphology	26503	SLC17A5	OMIM:269920
HP:0002921	Abnormal cerebrospinal fluid morphology	2990	GUSB	OMIM:253220
HP:0002921	Abnormal cerebrospinal fluid morphology	59341	TRPV4	ORPHA:2635
HP:0002921	Abnormal cerebrospinal fluid morphology	8243	SMC1A	ORPHA:220386
HP:0002921	Abnormal cerebrospinal fluid morphology	8777	MPDZ	OMIM:615219
HP:0002921	Abnormal cerebrospinal fluid morphology	25974	MMACHC	ORPHA:79282
HP:0002921	Abnormal cerebrospinal fluid morphology	25974	MMACHC	OMIM:277400
HP:0002921	Abnormal cerebrospinal fluid morphology	2639	GCDH	OMIM:231670
HP:0002921	Abnormal cerebrospinal fluid morphology	9469	CHST3	OMIM:245600
HP:0002921	Abnormal cerebrospinal fluid morphology	26229	B3GAT3	OMIM:245600
HP:0002921	Abnormal cerebrospinal fluid morphology	5052	PRDX1	OMIM:277400
HP:0002921	Abnormal cerebrospinal fluid morphology	8925	HERC1	ORPHA:457359
HP:0002921	Abnormal cerebrospinal fluid morphology	8925	HERC1	OMIM:617011
HP:0002921	Abnormal cerebrospinal fluid morphology	10491	CRTAP	ORPHA:2050
HP:0002921	Abnormal cerebrospinal fluid morphology	51095	TRNT1	OMIM:616084
HP:0002921	Abnormal cerebrospinal fluid morphology	55503	TRPV6	OMIM:618188
HP:0002921	Abnormal cerebrospinal fluid morphology	9231	DLG5	OMIM:620703
HP:0002921	Abnormal cerebrospinal fluid morphology	131405	TRIM71	OMIM:618667
HP:0002921	Abnormal cerebrospinal fluid morphology	6513	SLC2A1	ORPHA:168577
HP:0002921	Abnormal cerebrospinal fluid morphology	4125	MAN2B1	ORPHA:309282
HP:0002921	Abnormal cerebrospinal fluid morphology	9578	CDC42BPB	OMIM:619841
HP:0002921	Abnormal cerebrospinal fluid morphology	29128	UHRF1	ORPHA:2268
HP:0002921	Abnormal cerebrospinal fluid morphology	3070	HELLS	ORPHA:2268
HP:0002921	Abnormal cerebrospinal fluid morphology	1789	DNMT3B	ORPHA:2268
HP:0002921	Abnormal cerebrospinal fluid morphology	83879	CDCA7	ORPHA:2268
HP:0002921	Abnormal cerebrospinal fluid morphology	9841	ZBTB24	ORPHA:2268
HP:0002921	Abnormal cerebrospinal fluid morphology	26834	RNU4-2	OMIM:620851
HP:0002921	Abnormal cerebrospinal fluid morphology	2074	ERCC6	OMIM:133540
HP:0002921	Abnormal cerebrospinal fluid morphology	10381	TUBB3	ORPHA:300570
HP:0002921	Abnormal cerebrospinal fluid morphology	139886	SPIN4	OMIM:301114
HP:0002921	Abnormal cerebrospinal fluid morphology	80217	CFAP43	OMIM:236690
HP:0002921	Abnormal cerebrospinal fluid morphology	1161	ERCC8	OMIM:216400
HP:0002921	Abnormal cerebrospinal fluid morphology	6329	SCN4A	OMIM:620351
HP:0002921	Abnormal cerebrospinal fluid morphology	9131	AIFM1	ORPHA:238329
HP:0002921	Abnormal cerebrospinal fluid morphology	9131	AIFM1	OMIM:300816
HP:0002921	Abnormal cerebrospinal fluid morphology	4702	NDUFA8	OMIM:619272
HP:0002921	Abnormal cerebrospinal fluid morphology	10128	LRPPRC	OMIM:220111
HP:0002921	Abnormal cerebrospinal fluid morphology	10128	LRPPRC	ORPHA:70472
HP:0002921	Abnormal cerebrospinal fluid morphology	25915	NDUFAF3	ORPHA:2609
HP:0002921	Abnormal cerebrospinal fluid morphology	25915	NDUFAF3	OMIM:618240
HP:0002921	Abnormal cerebrospinal fluid morphology	51103	NDUFAF1	ORPHA:2609
HP:0002921	Abnormal cerebrospinal fluid morphology	91942	NDUFAF2	ORPHA:2609
HP:0002921	Abnormal cerebrospinal fluid morphology	91942	NDUFAF2	OMIM:618233
HP:0002921	Abnormal cerebrospinal fluid morphology	51300	TIMMDC1	ORPHA:2609
HP:0002921	Abnormal cerebrospinal fluid morphology	4716	NDUFB10	ORPHA:2609
HP:0002921	Abnormal cerebrospinal fluid morphology	4723	NDUFV1	ORPHA:2609
HP:0002921	Abnormal cerebrospinal fluid morphology	4723	NDUFV1	OMIM:618225
HP:0002921	Abnormal cerebrospinal fluid morphology	55572	FOXRED1	ORPHA:2609
HP:0002921	Abnormal cerebrospinal fluid morphology	284184	NDUFAF8	ORPHA:2609
HP:0002921	Abnormal cerebrospinal fluid morphology	55863	TMEM126B	ORPHA:2609
HP:0002921	Abnormal cerebrospinal fluid morphology	4537	MT-ND3	ORPHA:2609
HP:0002921	Abnormal cerebrospinal fluid morphology	4537	MT-ND3	ORPHA:255210
HP:0002921	Abnormal cerebrospinal fluid morphology	4729	NDUFV2	ORPHA:2609
HP:0002921	Abnormal cerebrospinal fluid morphology	4694	NDUFA1	ORPHA:2609
HP:0002921	Abnormal cerebrospinal fluid morphology	4720	NDUFS2	ORPHA:2609
HP:0002921	Abnormal cerebrospinal fluid morphology	4726	NDUFS6	ORPHA:2609
HP:0002921	Abnormal cerebrospinal fluid morphology	4728	NDUFS8	ORPHA:2609
HP:0002921	Abnormal cerebrospinal fluid morphology	4722	NDUFS3	ORPHA:2609
HP:0002921	Abnormal cerebrospinal fluid morphology	4722	NDUFS3	OMIM:618230
HP:0002921	Abnormal cerebrospinal fluid morphology	79133	NDUFAF5	ORPHA:2609
HP:0002921	Abnormal cerebrospinal fluid morphology	79133	NDUFAF5	OMIM:618238
HP:0002921	Abnormal cerebrospinal fluid morphology	126328	NDUFA11	ORPHA:2609
HP:0002921	Abnormal cerebrospinal fluid morphology	4709	NDUFB3	ORPHA:2609
HP:0002921	Abnormal cerebrospinal fluid morphology	80224	NUBPL	ORPHA:2609
HP:0002921	Abnormal cerebrospinal fluid morphology	80224	NUBPL	OMIM:618242
HP:0002921	Abnormal cerebrospinal fluid morphology	29078	NDUFAF4	ORPHA:2609
HP:0002921	Abnormal cerebrospinal fluid morphology	374291	NDUFS7	ORPHA:2609
HP:0002921	Abnormal cerebrospinal fluid morphology	4700	NDUFA6	ORPHA:2609
HP:0002921	Abnormal cerebrospinal fluid morphology	4700	NDUFA6	OMIM:618253
HP:0002921	Abnormal cerebrospinal fluid morphology	4536	MT-ND2	ORPHA:2609
HP:0002921	Abnormal cerebrospinal fluid morphology	4536	MT-ND2	ORPHA:255210
HP:0002921	Abnormal cerebrospinal fluid morphology	4719	NDUFS1	ORPHA:2609
HP:0002921	Abnormal cerebrospinal fluid morphology	4719	NDUFS1	OMIM:618226
HP:0002921	Abnormal cerebrospinal fluid morphology	4715	NDUFB9	ORPHA:2609
HP:0002921	Abnormal cerebrospinal fluid morphology	57128	LYRM4	OMIM:615595
HP:0002921	Abnormal cerebrospinal fluid morphology	4570	MT-TN	OMIM:220110
HP:0002921	Abnormal cerebrospinal fluid morphology	6834	SURF1	OMIM:220110
HP:0002921	Abnormal cerebrospinal fluid morphology	10059	DNM1L	OMIM:614388
HP:0002921	Abnormal cerebrospinal fluid morphology	85476	GFM1	OMIM:609060
HP:0002921	Abnormal cerebrospinal fluid morphology	84334	COA8	ORPHA:436271
HP:0002921	Abnormal cerebrospinal fluid morphology	123263	MTFMT	OMIM:614947
HP:0002921	Abnormal cerebrospinal fluid morphology	10667	FARS2	OMIM:614946
HP:0002921	Abnormal cerebrospinal fluid morphology	8050	PDHX	ORPHA:255182
HP:0002921	Abnormal cerebrospinal fluid morphology	4577	MT-TV	ORPHA:255210
HP:0002921	Abnormal cerebrospinal fluid morphology	4508	MT-ATP6	ORPHA:255210
HP:0002921	Abnormal cerebrospinal fluid morphology	4566	MT-TK	ORPHA:255210
HP:0002921	Abnormal cerebrospinal fluid morphology	65993	MRPS34	OMIM:617664
HP:0002921	Abnormal cerebrospinal fluid morphology	5160	PDHA1	OMIM:312170
HP:0002921	Abnormal cerebrospinal fluid morphology	5160	PDHA1	ORPHA:79243
HP:0002921	Abnormal cerebrospinal fluid morphology	56997	COQ8A	ORPHA:139485
HP:0002921	Abnormal cerebrospinal fluid morphology	56997	COQ8A	OMIM:612016
HP:0002921	Abnormal cerebrospinal fluid morphology	1352	COX10	OMIM:619046
HP:0002921	Abnormal cerebrospinal fluid morphology	54931	TRMT10C	OMIM:616974
HP:0002921	Abnormal cerebrospinal fluid morphology	3145	HMBS	OMIM:620711
HP:0002921	Abnormal cerebrospinal fluid morphology	51218	GLRX5	OMIM:616859
HP:0002921	Abnormal cerebrospinal fluid morphology	1353	COX11	OMIM:620275
HP:0002921	Abnormal cerebrospinal fluid morphology	4204	MECP2	ORPHA:778
HP:0002921	Abnormal cerebrospinal fluid morphology	87178	PNPT1	ORPHA:319514
HP:0002921	Abnormal cerebrospinal fluid morphology	87178	PNPT1	OMIM:614932
HP:0002921	Abnormal cerebrospinal fluid morphology	1340	COX6B1	OMIM:619051
HP:0002921	Abnormal cerebrospinal fluid morphology	84987	COX14	OMIM:619053
HP:0002921	Abnormal cerebrospinal fluid morphology	55967	NDUFA12	OMIM:618244
HP:0002921	Abnormal cerebrospinal fluid morphology	84340	GFM2	ORPHA:565624
HP:0002921	Abnormal cerebrospinal fluid morphology	84340	GFM2	OMIM:618397
HP:0002921	Abnormal cerebrospinal fluid morphology	1351	COX8A	OMIM:619059
HP:0002921	Abnormal cerebrospinal fluid morphology	116228	COX20	OMIM:619054
HP:0002921	Abnormal cerebrospinal fluid morphology	100131801	PET100	OMIM:619055
HP:0002921	Abnormal cerebrospinal fluid morphology	4705	NDUFA10	OMIM:618243
HP:0002921	Abnormal cerebrospinal fluid morphology	55157	DARS2	ORPHA:137898
HP:0002921	Abnormal cerebrospinal fluid morphology	291	SLC25A4	OMIM:615418
HP:0002921	Abnormal cerebrospinal fluid morphology	291	SLC25A4	OMIM:617184
HP:0002921	Abnormal cerebrospinal fluid morphology	9361	LONP1	ORPHA:79243
HP:0002921	Abnormal cerebrospinal fluid morphology	91647	ATPAF2	OMIM:604273
HP:0002921	Abnormal cerebrospinal fluid morphology	8802	SUCLG1	OMIM:245400
HP:0002921	Abnormal cerebrospinal fluid morphology	8802	SUCLG1	ORPHA:17
HP:0002921	Abnormal cerebrospinal fluid morphology	100303755	PET117	OMIM:619063
HP:0002921	Abnormal cerebrospinal fluid morphology	4697	NDUFA4	OMIM:619065
HP:0002921	Abnormal cerebrospinal fluid morphology	4714	NDUFB8	OMIM:618252
HP:0002921	Abnormal cerebrospinal fluid morphology	790955	UQCC3	OMIM:616111
HP:0002921	Abnormal cerebrospinal fluid morphology	84300	UQCC2	OMIM:615824
HP:0002921	Abnormal cerebrospinal fluid morphology	79731	NARS2	OMIM:616239
HP:0002921	Abnormal cerebrospinal fluid morphology	27010	TPK1	OMIM:614458
HP:0002921	Abnormal cerebrospinal fluid morphology	3028	HSD17B10	ORPHA:391428
HP:0002921	Abnormal cerebrospinal fluid morphology	9997	SCO2	OMIM:604377
HP:0002921	Abnormal cerebrospinal fluid morphology	92609	TIMM50	OMIM:617698
HP:0002921	Abnormal cerebrospinal fluid morphology	4191	MDH2	OMIM:617339
HP:0002921	Abnormal cerebrospinal fluid morphology	90624	LYRM7	OMIM:615838
HP:0002921	Abnormal cerebrospinal fluid morphology	128240	NAXE	OMIM:617186
HP:0002921	Abnormal cerebrospinal fluid morphology	4976	OPA1	OMIM:616896
HP:0002921	Abnormal cerebrospinal fluid morphology	539	ATP5PO	OMIM:620359
HP:0002921	Abnormal cerebrospinal fluid morphology	57038	RARS2	OMIM:611523
HP:0002921	Abnormal cerebrospinal fluid morphology	200205	IBA57	OMIM:615330
HP:0002921	Abnormal cerebrospinal fluid morphology	60386	SLC25A19	OMIM:613710
HP:0002921	Abnormal cerebrospinal fluid morphology	55005	RMND1	OMIM:614922
HP:0002921	Abnormal cerebrospinal fluid morphology	64116	SLC39A8	ORPHA:468699
HP:0002921	Abnormal cerebrospinal fluid morphology	27247	NFU1	OMIM:605711
HP:0002921	Abnormal cerebrospinal fluid morphology	84842	HPDL	OMIM:619026
HP:0002921	Abnormal cerebrospinal fluid morphology	81570	CLPB	OMIM:616271
HP:0002921	Abnormal cerebrospinal fluid morphology	1892	ECHS1	OMIM:616277
HP:0002921	Abnormal cerebrospinal fluid morphology	8803	SUCLA2	OMIM:612073
HP:0002921	Abnormal cerebrospinal fluid morphology	27429	HTRA2	OMIM:617248
HP:0002921	Abnormal cerebrospinal fluid morphology	6253	RTN2	ORPHA:100993
HP:0002921	Abnormal cerebrospinal fluid morphology	51271	UBAP1	ORPHA:100993
HP:0002921	Abnormal cerebrospinal fluid morphology	126129	CPT1C	ORPHA:444099
HP:0002921	Abnormal cerebrospinal fluid morphology	3839	KPNA3	ORPHA:171612
HP:0002921	Abnormal cerebrospinal fluid morphology	9897	WASHC5	ORPHA:100989
HP:0002921	Abnormal cerebrospinal fluid morphology	7084	TK2	ORPHA:254886
HP:0002921	Abnormal cerebrospinal fluid morphology	5428	POLG	ORPHA:254886
HP:0002921	Abnormal cerebrospinal fluid morphology	9197	SLC33A1	ORPHA:171863
HP:0002921	Abnormal cerebrospinal fluid morphology	1786	DNMT1	ORPHA:314404
HP:0002921	Abnormal cerebrospinal fluid morphology	8659	ALDH4A1	ORPHA:79101
HP:0002921	Abnormal cerebrospinal fluid morphology	56244	BTNL2	ORPHA:797
HP:0002921	Abnormal cerebrospinal fluid morphology	3123	HLA-DRB1	ORPHA:797
HP:0002921	Abnormal cerebrospinal fluid morphology	6843	VAMP1	ORPHA:251282
HP:0002921	Abnormal cerebrospinal fluid morphology	5621	PRNP	ORPHA:282166
HP:0002921	Abnormal cerebrospinal fluid morphology	5621	PRNP	OMIM:123400
HP:0002921	Abnormal cerebrospinal fluid morphology	4558	MT-TF	ORPHA:550
HP:0002921	Abnormal cerebrospinal fluid morphology	4572	MT-TQ	ORPHA:550
HP:0002921	Abnormal cerebrospinal fluid morphology	4512	MT-CO1	ORPHA:550
HP:0002921	Abnormal cerebrospinal fluid morphology	4513	MT-CO2	ORPHA:550
HP:0002921	Abnormal cerebrospinal fluid morphology	4514	MT-CO3	ORPHA:550
HP:0002921	Abnormal cerebrospinal fluid morphology	4578	MT-TW	ORPHA:550
HP:0002921	Abnormal cerebrospinal fluid morphology	4540	MT-ND5	ORPHA:550
HP:0002921	Abnormal cerebrospinal fluid morphology	4541	MT-ND6	ORPHA:550
HP:0002921	Abnormal cerebrospinal fluid morphology	4535	MT-ND1	ORPHA:550
HP:0002921	Abnormal cerebrospinal fluid morphology	4538	MT-ND4	ORPHA:550
HP:0002921	Abnormal cerebrospinal fluid morphology	4567	MT-TL1	ORPHA:550
HP:0002921	Abnormal cerebrospinal fluid morphology	4567	MT-TL1	ORPHA:480
HP:0002921	Abnormal cerebrospinal fluid morphology	4574	MT-TS1	ORPHA:550
HP:0002921	Abnormal cerebrospinal fluid morphology	4575	MT-TS2	ORPHA:550
HP:0002921	Abnormal cerebrospinal fluid morphology	4564	MT-TH	ORPHA:550
HP:0002921	Abnormal cerebrospinal fluid morphology	410	ARSA	ORPHA:309256
HP:0002921	Abnormal cerebrospinal fluid morphology	410	ARSA	ORPHA:309271
HP:0002921	Abnormal cerebrospinal fluid morphology	410	ARSA	ORPHA:309263
HP:0002921	Abnormal cerebrospinal fluid morphology	410	ARSA	OMIM:250100
HP:0002921	Abnormal cerebrospinal fluid morphology	10367	MICU1	OMIM:615673
HP:0002921	Abnormal cerebrospinal fluid morphology	5191	PEX7	OMIM:266500
HP:0002921	Abnormal cerebrospinal fluid morphology	5264	PHYH	OMIM:266500
HP:0002921	Abnormal cerebrospinal fluid morphology	25828	TXN2	ORPHA:478029
HP:0002921	Abnormal cerebrospinal fluid morphology	25828	TXN2	OMIM:616811
HP:0002921	Abnormal cerebrospinal fluid morphology	100506658	OCLN	OMIM:251290
HP:0002921	Abnormal cerebrospinal fluid morphology	5698	PSMB9	OMIM:620796
HP:0002921	Abnormal cerebrospinal fluid morphology	1890	TYMP	ORPHA:298
HP:0002921	Abnormal cerebrospinal fluid morphology	3980	LIG3	ORPHA:298
HP:0002921	Abnormal cerebrospinal fluid morphology	50484	RRM2B	ORPHA:298
HP:0002921	Abnormal cerebrospinal fluid morphology	50484	RRM2B	ORPHA:480
HP:0002921	Abnormal cerebrospinal fluid morphology	51099	ABHD5	ORPHA:98907
HP:0002921	Abnormal cerebrospinal fluid morphology	4724	NDUFS4	OMIM:252010
HP:0002921	Abnormal cerebrospinal fluid morphology	966	CD59	OMIM:612300
HP:0002921	Abnormal cerebrospinal fluid morphology	4358	MPV17	OMIM:256810
HP:0002921	Abnormal cerebrospinal fluid morphology	3119	HLA-DQB1	OMIM:123400
HP:0002921	Abnormal cerebrospinal fluid morphology	7276	TTR	OMIM:105210
HP:0002921	Abnormal cerebrospinal fluid morphology	5903	RANBP2	OMIM:608033
HP:0002921	Abnormal cerebrospinal fluid morphology	5903	RANBP2	ORPHA:88619
HP:0002921	Abnormal cerebrospinal fluid morphology	2632	GBE1	OMIM:263570
HP:0002921	Abnormal cerebrospinal fluid morphology	2512	FTL	ORPHA:157846
HP:0002921	Abnormal cerebrospinal fluid morphology	587	BCAT2	OMIM:618850
HP:0002921	Abnormal cerebrospinal fluid morphology	4509	MT-ATP8	ORPHA:480
HP:0002921	Abnormal cerebrospinal fluid morphology	5376	PMP22	OMIM:145900
HP:0002921	Abnormal cerebrospinal fluid morphology	4359	MPZ	OMIM:145900
HP:0002921	Abnormal cerebrospinal fluid morphology	4359	MPZ	ORPHA:101082
HP:0002921	Abnormal cerebrospinal fluid morphology	1959	EGR2	OMIM:145900
HP:0002921	Abnormal cerebrospinal fluid morphology	57716	PRX	OMIM:145900
HP:0002921	Abnormal cerebrospinal fluid morphology	9990	SLC12A6	OMIM:218000
HP:0002921	Abnormal cerebrospinal fluid morphology	2643	GCH1	ORPHA:98808
HP:0002921	Abnormal cerebrospinal fluid morphology	4929	NR4A2	ORPHA:98808
HP:0002921	Abnormal cerebrospinal fluid morphology	4929	NR4A2	OMIM:619911
HP:0002921	Abnormal cerebrospinal fluid morphology	3615	IMPDH2	ORPHA:98808
HP:0002921	Abnormal cerebrospinal fluid morphology	7054	TH	OMIM:605407
HP:0002921	Abnormal cerebrospinal fluid morphology	7054	TH	ORPHA:101150
HP:0002921	Abnormal cerebrospinal fluid morphology	55163	PNPO	ORPHA:79096
HP:0002921	Abnormal cerebrospinal fluid morphology	55163	PNPO	OMIM:610090
HP:0002921	Abnormal cerebrospinal fluid morphology	9256	TSPOAP1	ORPHA:101150
HP:0002921	Abnormal cerebrospinal fluid morphology	79621	RNASEH2B	ORPHA:51
HP:0002921	Abnormal cerebrospinal fluid morphology	100147744	RNU7-1	ORPHA:51
HP:0002921	Abnormal cerebrospinal fluid morphology	64135	IFIH1	ORPHA:51
HP:0002921	Abnormal cerebrospinal fluid morphology	3458	IFNG	ORPHA:805
HP:0002921	Abnormal cerebrospinal fluid morphology	29998	BICRA	OMIM:619325
HP:0002921	Abnormal cerebrospinal fluid morphology	6599	SMARCC1	OMIM:620241
HP:0002921	Abnormal cerebrospinal fluid morphology	23030	KDM4B	OMIM:619320
HP:0002921	Abnormal cerebrospinal fluid morphology	64849	SLC13A3	OMIM:618384
HP:0002921	Abnormal cerebrospinal fluid morphology	103	ADAR	OMIM:615010
HP:0002921	Abnormal cerebrospinal fluid morphology	129607	CMPK2	OMIM:621018
HP:0002921	Abnormal cerebrospinal fluid morphology	773	CACNA1A	ORPHA:569
HP:0002921	Abnormal cerebrospinal fluid morphology	112476	PRRT2	ORPHA:569
HP:0002921	Abnormal cerebrospinal fluid morphology	6323	SCN1A	ORPHA:569
HP:0002921	Abnormal cerebrospinal fluid morphology	477	ATP1A2	ORPHA:569
HP:0002921	Abnormal cerebrospinal fluid morphology	5551	PRF1	ORPHA:540
HP:0002921	Abnormal cerebrospinal fluid morphology	5551	PRF1	OMIM:603553
HP:0002921	Abnormal cerebrospinal fluid morphology	8676	STX11	ORPHA:540
HP:0002921	Abnormal cerebrospinal fluid morphology	201294	UNC13D	ORPHA:540
HP:0002921	Abnormal cerebrospinal fluid morphology	6813	STXBP2	ORPHA:540
HP:0002921	Abnormal cerebrospinal fluid morphology	134353	LSM11	OMIM:619486
HP:0002921	Abnormal cerebrospinal fluid morphology	355	FAS	ORPHA:3437
HP:0002921	Abnormal cerebrospinal fluid morphology	26191	PTPN22	ORPHA:3437
HP:0002921	Abnormal cerebrospinal fluid morphology	100996717	NOTCH2NLC	OMIM:603472
HP:0002921	Abnormal cerebrospinal fluid morphology	50640	PNPLA8	OMIM:251950
HP:0002921	Abnormal cerebrospinal fluid morphology	1719	DHFR	OMIM:613839
HP:0002921	Abnormal cerebrospinal fluid morphology	23299	BICD2	OMIM:618291
HP:0002921	Abnormal cerebrospinal fluid morphology	2898	GRIK2	OMIM:619580
HP:0002921	Abnormal cerebrospinal fluid morphology	129285	PPP1R21	OMIM:619383
HP:0002921	Abnormal cerebrospinal fluid morphology	84823	LMNB2	OMIM:619180
HP:0002921	Abnormal cerebrospinal fluid morphology	4001	LMNB1	OMIM:619179
HP:0002921	Abnormal cerebrospinal fluid morphology	10617	STAMBP	OMIM:614261
HP:0002921	Abnormal cerebrospinal fluid morphology	8567	MADD	OMIM:619004
HP:0002921	Abnormal cerebrospinal fluid morphology	8567	MADD	OMIM:619005
HP:0002921	Abnormal cerebrospinal fluid morphology	23404	EXOSC2	OMIM:617763
HP:0002921	Abnormal cerebrospinal fluid morphology	116461	TSEN15	OMIM:617026
HP:0002921	Abnormal cerebrospinal fluid morphology	9276	COPB2	OMIM:617800
HP:0002921	Abnormal cerebrospinal fluid morphology	200424	TET3	OMIM:618798
HP:0002921	Abnormal cerebrospinal fluid morphology	8021	NUP214	OMIM:618426
HP:0002921	Abnormal cerebrospinal fluid morphology	51112	TRAPPC12	OMIM:617669
HP:0002921	Abnormal cerebrospinal fluid morphology	5805	PTS	OMIM:261640
HP:0002921	Abnormal cerebrospinal fluid morphology	55768	NGLY1	OMIM:615273
HP:0002921	Abnormal cerebrospinal fluid morphology	55768	NGLY1	ORPHA:404454
HP:0002921	Abnormal cerebrospinal fluid morphology	1644	DDC	ORPHA:35708
HP:0002921	Abnormal cerebrospinal fluid morphology	3514	IGKC	ORPHA:183675
HP:0002921	Abnormal cerebrospinal fluid morphology	3501	IGHG2	ORPHA:183675
HP:0002921	Abnormal cerebrospinal fluid morphology	443	ASPA	OMIM:271900
HP:0002921	Abnormal cerebrospinal fluid morphology	7915	ALDH5A1	OMIM:271980
HP:0002921	Abnormal cerebrospinal fluid morphology	1327	COX4I1	OMIM:619060
HP:0002921	Abnormal cerebrospinal fluid morphology	6531	SLC6A3	OMIM:613135
HP:0002921	Abnormal cerebrospinal fluid morphology	435	ASL	OMIM:207900
HP:0002921	Abnormal cerebrospinal fluid morphology	1317	SLC31A1	OMIM:620306
HP:0002921	Abnormal cerebrospinal fluid morphology	6773	STAT2	OMIM:616636
HP:0002921	Abnormal cerebrospinal fluid morphology	3735	KARS1	OMIM:619147
HP:0002921	Abnormal cerebrospinal fluid morphology	1053	CEBPE	OMIM:245480
HP:0002921	Abnormal cerebrospinal fluid morphology	11277	TREX1	OMIM:225750
HP:0002921	Abnormal cerebrospinal fluid morphology	3661	IRF3	OMIM:616532
HP:0002921	Abnormal cerebrospinal fluid morphology	25939	SAMHD1	OMIM:612952
HP:0002921	Abnormal cerebrospinal fluid morphology	84153	RNASEH2C	OMIM:610329
HP:0002921	Abnormal cerebrospinal fluid morphology	7187	TRAF3	ORPHA:1930
HP:0002921	Abnormal cerebrospinal fluid morphology	81622	UNC93B1	ORPHA:1930
HP:0002921	Abnormal cerebrospinal fluid morphology	148022	TICAM1	ORPHA:1930
HP:0002921	Abnormal cerebrospinal fluid morphology	7098	TLR3	ORPHA:1930
HP:0002921	Abnormal cerebrospinal fluid morphology	29110	TBK1	ORPHA:1930
HP:0002921	Abnormal cerebrospinal fluid morphology	22934	RPIA	OMIM:608611
HP:0002921	Abnormal cerebrospinal fluid morphology	1738	DLD	OMIM:246900
HP:0002921	Abnormal cerebrospinal fluid morphology	10295	BCKDK	OMIM:614923
HP:0002921	Abnormal cerebrospinal fluid morphology	2752	GLUL	OMIM:610015
HP:0002921	Abnormal cerebrospinal fluid morphology	2752	GLUL	OMIM:620806
HP:0002921	Abnormal cerebrospinal fluid morphology	5277	PIGA	OMIM:301072
HP:0002921	Abnormal cerebrospinal fluid morphology	132	ADK	OMIM:614300
HP:0002921	Abnormal cerebrospinal fluid morphology	29968	PSAT1	OMIM:610992
HP:0002921	Abnormal cerebrospinal fluid morphology	388962	BOLA3	OMIM:614299
HP:0002921	Abnormal cerebrospinal fluid morphology	2653	GCSH	OMIM:620423
HP:0002921	Abnormal cerebrospinal fluid morphology	275	AMT	OMIM:620398
HP:0002921	Abnormal cerebrospinal fluid morphology	1737	DLAT	ORPHA:79244
HP:0002921	Abnormal cerebrospinal fluid morphology	6558	SLC12A2	OMIM:619080
HP:0002921	Abnormal cerebrospinal fluid morphology	10157	AASS	ORPHA:2203
HP:0002921	Abnormal cerebrospinal fluid morphology	1593	CYP27A1	OMIM:213700
HP:0002921	Abnormal cerebrospinal fluid morphology	51733	UPB1	OMIM:613161
HP:0002921	Abnormal cerebrospinal fluid morphology	1807	DPYS	OMIM:222748
HP:0002921	Abnormal cerebrospinal fluid morphology	728294	D2HGDH	OMIM:600721
HP:0002921	Abnormal cerebrospinal fluid morphology	6576	SLC25A1	OMIM:615182
HP:0002921	Abnormal cerebrospinal fluid morphology	132158	GLYCTK	OMIM:220120
HP:0002921	Abnormal cerebrospinal fluid morphology	5193	PEX12	OMIM:266510
HP:0002921	Abnormal cerebrospinal fluid morphology	8893	EIF2B5	OMIM:620315
HP:0002922	Increased CSF protein concentration	5621	PRNP	ORPHA:282166
HP:0002922	Increased CSF protein concentration	5621	PRNP	OMIM:123400
HP:0002922	Increased CSF protein concentration	4558	MT-TF	ORPHA:550
HP:0002922	Increased CSF protein concentration	4572	MT-TQ	ORPHA:550
HP:0002922	Increased CSF protein concentration	4512	MT-CO1	ORPHA:550
HP:0002922	Increased CSF protein concentration	4513	MT-CO2	ORPHA:550
HP:0002922	Increased CSF protein concentration	4514	MT-CO3	ORPHA:550
HP:0002922	Increased CSF protein concentration	4578	MT-TW	ORPHA:550
HP:0002922	Increased CSF protein concentration	4540	MT-ND5	ORPHA:550
HP:0002922	Increased CSF protein concentration	4541	MT-ND6	ORPHA:550
HP:0002922	Increased CSF protein concentration	4535	MT-ND1	ORPHA:550
HP:0002922	Increased CSF protein concentration	4538	MT-ND4	ORPHA:550
HP:0002922	Increased CSF protein concentration	4567	MT-TL1	ORPHA:550
HP:0002922	Increased CSF protein concentration	4567	MT-TL1	ORPHA:480
HP:0002922	Increased CSF protein concentration	4574	MT-TS1	ORPHA:550
HP:0002922	Increased CSF protein concentration	4575	MT-TS2	ORPHA:550
HP:0002922	Increased CSF protein concentration	4564	MT-TH	ORPHA:550
HP:0002922	Increased CSF protein concentration	410	ARSA	ORPHA:309256
HP:0002922	Increased CSF protein concentration	410	ARSA	ORPHA:309271
HP:0002922	Increased CSF protein concentration	410	ARSA	ORPHA:309263
HP:0002922	Increased CSF protein concentration	410	ARSA	OMIM:250100
HP:0002922	Increased CSF protein concentration	5660	PSAP	ORPHA:309256
HP:0002922	Increased CSF protein concentration	5660	PSAP	OMIM:249900
HP:0002922	Increased CSF protein concentration	5660	PSAP	OMIM:611722
HP:0002922	Increased CSF protein concentration	5660	PSAP	ORPHA:309271
HP:0002922	Increased CSF protein concentration	5660	PSAP	ORPHA:206436
HP:0002922	Increased CSF protein concentration	5660	PSAP	ORPHA:309263
HP:0002922	Increased CSF protein concentration	10367	MICU1	OMIM:615673
HP:0002922	Increased CSF protein concentration	100996717	NOTCH2NLC	OMIM:619473
HP:0002922	Increased CSF protein concentration	100996717	NOTCH2NLC	OMIM:603472
HP:0002922	Increased CSF protein concentration	5428	POLG	OMIM:258450
HP:0002922	Increased CSF protein concentration	5428	POLG	OMIM:203700
HP:0002922	Increased CSF protein concentration	5428	POLG	ORPHA:298
HP:0002922	Increased CSF protein concentration	8659	ALDH4A1	ORPHA:79101
HP:0002922	Increased CSF protein concentration	285362	SUMF1	OMIM:272200
HP:0002922	Increased CSF protein concentration	5551	PRF1	OMIM:603553
HP:0002922	Increased CSF protein concentration	2581	GALC	ORPHA:206443
HP:0002922	Increased CSF protein concentration	2581	GALC	ORPHA:206448
HP:0002922	Increased CSF protein concentration	2581	GALC	ORPHA:206436
HP:0002922	Increased CSF protein concentration	2581	GALC	OMIM:245200
HP:0002922	Increased CSF protein concentration	5191	PEX7	OMIM:266500
HP:0002922	Increased CSF protein concentration	5264	PHYH	OMIM:266500
HP:0002922	Increased CSF protein concentration	25828	TXN2	ORPHA:478029
HP:0002922	Increased CSF protein concentration	25828	TXN2	OMIM:616811
HP:0002922	Increased CSF protein concentration	2670	GFAP	OMIM:203450
HP:0002922	Increased CSF protein concentration	100506658	OCLN	OMIM:251290
HP:0002922	Increased CSF protein concentration	5698	PSMB9	OMIM:620796
HP:0002922	Increased CSF protein concentration	1890	TYMP	ORPHA:298
HP:0002922	Increased CSF protein concentration	3980	LIG3	ORPHA:298
HP:0002922	Increased CSF protein concentration	50484	RRM2B	ORPHA:298
HP:0002922	Increased CSF protein concentration	50484	RRM2B	ORPHA:480
HP:0002922	Increased CSF protein concentration	51099	ABHD5	ORPHA:98907
HP:0002922	Increased CSF protein concentration	4724	NDUFS4	OMIM:252010
HP:0002922	Increased CSF protein concentration	966	CD59	OMIM:612300
HP:0002922	Increased CSF protein concentration	4358	MPV17	OMIM:256810
HP:0002922	Increased CSF protein concentration	3119	HLA-DQB1	OMIM:123400
HP:0002922	Increased CSF protein concentration	773	CACNA1A	ORPHA:569
HP:0002922	Increased CSF protein concentration	112476	PRRT2	ORPHA:569
HP:0002922	Increased CSF protein concentration	6323	SCN1A	ORPHA:569
HP:0002922	Increased CSF protein concentration	477	ATP1A2	ORPHA:569
HP:0002922	Increased CSF protein concentration	7276	TTR	OMIM:105210
HP:0002922	Increased CSF protein concentration	5903	RANBP2	OMIM:608033
HP:0002922	Increased CSF protein concentration	5903	RANBP2	ORPHA:88619
HP:0002922	Increased CSF protein concentration	2632	GBE1	OMIM:263570
HP:0002922	Increased CSF protein concentration	2512	FTL	ORPHA:157846
HP:0002922	Increased CSF protein concentration	587	BCAT2	OMIM:618850
HP:0002922	Increased CSF protein concentration	4509	MT-ATP8	ORPHA:480
HP:0002922	Increased CSF protein concentration	5376	PMP22	OMIM:145900
HP:0002922	Increased CSF protein concentration	4359	MPZ	OMIM:145900
HP:0002922	Increased CSF protein concentration	4359	MPZ	ORPHA:101082
HP:0002922	Increased CSF protein concentration	1959	EGR2	OMIM:145900
HP:0002922	Increased CSF protein concentration	57716	PRX	OMIM:145900
HP:0002922	Increased CSF protein concentration	4001	LMNB1	ORPHA:99027
HP:0002922	Increased CSF protein concentration	56244	BTNL2	ORPHA:797
HP:0002922	Increased CSF protein concentration	3123	HLA-DRB1	ORPHA:797
HP:0002922	Increased CSF protein concentration	9990	SLC12A6	OMIM:218000
HP:0002922	Increased CSF protein concentration	7187	TRAF3	ORPHA:1930
HP:0002922	Increased CSF protein concentration	81622	UNC93B1	ORPHA:1930
HP:0002922	Increased CSF protein concentration	148022	TICAM1	ORPHA:1930
HP:0002922	Increased CSF protein concentration	7098	TLR3	ORPHA:1930
HP:0002922	Increased CSF protein concentration	29110	TBK1	ORPHA:1930
HP:0002923	Rheumatoid factor positive	355	FAS	ORPHA:3261
HP:0002923	Rheumatoid factor positive	355	FAS	OMIM:601859
HP:0002923	Rheumatoid factor positive	356	FASLG	ORPHA:3261
HP:0002923	Rheumatoid factor positive	356	FASLG	OMIM:601859
HP:0002923	Rheumatoid factor positive	843	CASP10	ORPHA:3261
HP:0002923	Rheumatoid factor positive	843	CASP10	OMIM:603909
HP:0002923	Rheumatoid factor positive	139818	DOCK11	OMIM:301109
HP:0002923	Rheumatoid factor positive	29775	CARD10	OMIM:619632
HP:0002923	Rheumatoid factor positive	5238	PGM3	ORPHA:443811
HP:0002923	Rheumatoid factor positive	5238	PGM3	OMIM:615816
HP:0002923	Rheumatoid factor positive	340061	STING1	OMIM:615934
HP:0002923	Rheumatoid factor positive	3586	IL10	OMIM:180300
HP:0002923	Rheumatoid factor positive	6583	SLC22A4	OMIM:180300
HP:0002923	Rheumatoid factor positive	26191	PTPN22	OMIM:180300
HP:0002923	Rheumatoid factor positive	4261	CIITA	OMIM:180300
HP:0002923	Rheumatoid factor positive	51744	CD244	OMIM:180300
HP:0002923	Rheumatoid factor positive	4795	NFKBIL1	OMIM:180300
HP:0002923	Rheumatoid factor positive	713	C1QB	OMIM:620321
HP:0002923	Rheumatoid factor positive	3106	HLA-B	OMIM:106300
HP:0002923	Rheumatoid factor positive	8737	RIPK1	OMIM:618852
HP:0002923	Rheumatoid factor positive	8838	CCN6	ORPHA:1159
HP:0002923	Rheumatoid factor positive	79415	CYBC1	OMIM:618935
HP:0002923	Rheumatoid factor positive	3459	IFNGR1	OMIM:209950
HP:0002923	Rheumatoid factor positive	4067	LYN	OMIM:620376
HP:0004319	Decreased circulating aldosterone concentration	6338	SCNN1B	OMIM:177200
HP:0004319	Decreased circulating aldosterone concentration	326	AIRE	OMIM:240300
HP:0004319	Decreased circulating aldosterone concentration	326	AIRE	ORPHA:3453
HP:0004319	Decreased circulating aldosterone concentration	6337	SCNN1A	OMIM:618126
HP:0004319	Decreased circulating aldosterone concentration	1583	CYP11A1	ORPHA:168558
HP:0004319	Decreased circulating aldosterone concentration	1583	CYP11A1	ORPHA:289548
HP:0004319	Decreased circulating aldosterone concentration	1585	CYP11B2	OMIM:203400
HP:0004319	Decreased circulating aldosterone concentration	1585	CYP11B2	OMIM:610600
HP:0004319	Decreased circulating aldosterone concentration	1585	CYP11B2	ORPHA:556030
HP:0004319	Decreased circulating aldosterone concentration	3291	HSD11B2	OMIM:218030
HP:0004319	Decreased circulating aldosterone concentration	3291	HSD11B2	ORPHA:320
HP:0004319	Decreased circulating aldosterone concentration	29926	GMPPA	ORPHA:869
HP:0004319	Decreased circulating aldosterone concentration	60684	TRAPPC11	ORPHA:869
HP:0004319	Decreased circulating aldosterone concentration	8086	AAAS	ORPHA:869
HP:0004319	Decreased circulating aldosterone concentration	8086	AAAS	OMIM:231550
HP:0004319	Decreased circulating aldosterone concentration	2908	NR3C1	ORPHA:786
HP:0004319	Decreased circulating aldosterone concentration	56246	MRAP	ORPHA:361
HP:0004319	Decreased circulating aldosterone concentration	6770	STAR	ORPHA:361
HP:0004319	Decreased circulating aldosterone concentration	4158	MC2R	ORPHA:361
HP:0004319	Decreased circulating aldosterone concentration	23530	NNT	ORPHA:361
HP:0004319	Decreased circulating aldosterone concentration	10587	TXNRD2	ORPHA:361
HP:0004319	Decreased circulating aldosterone concentration	190	NR0B1	OMIM:300200
HP:0004319	Decreased circulating aldosterone concentration	4306	NR3C2	OMIM:605115
HP:0004319	Decreased circulating aldosterone concentration	6340	SCNN1G	OMIM:618114
HP:0004319	Decreased circulating aldosterone concentration	1584	CYP11B1	OMIM:202010
HP:0004319	Decreased circulating aldosterone concentration	3284	HSD3B2	ORPHA:90791
HP:0004319	Decreased circulating aldosterone concentration	1586	CYP17A1	ORPHA:90793
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	83483	PLVAP	OMIM:618183
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	5373	PMM2	ORPHA:79318
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	7840	ALMS1	ORPHA:64
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	326	AIRE	OMIM:240300
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	2304	FOXE1	OMIM:241850
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	51081	MRPS7	OMIM:617872
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	2778	GNAS	OMIM:612462
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	405753	DUOXA2	ORPHA:95716
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	6528	SLC5A5	ORPHA:95716
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	7038	TG	ORPHA:95716
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	7173	TPO	ORPHA:95716
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	389434	IYD	ORPHA:95716
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	50506	DUOX2	ORPHA:95716
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	50506	DUOX2	ORPHA:226316
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	7068	THRB	OMIM:145650
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	7068	THRB	OMIM:274300
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	7355	SLC35A2	ORPHA:356961
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	7080	NKX2-1	ORPHA:209905
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	7080	NKX2-1	OMIM:610978
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	7849	PAX8	ORPHA:95712
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	7849	PAX8	OMIM:218700
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	1482	NKX2-5	ORPHA:95712
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	1482	NKX2-5	OMIM:225250
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	7201	TRHR	ORPHA:99832
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	23137	SMC5	OMIM:620185
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	80067	DCAF17	OMIM:241080
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	6567	SLC16A2	OMIM:300523
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	5159	PDGFRB	OMIM:601812
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	64072	CDH23	ORPHA:91347
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	79048	SECISBP2	ORPHA:171706
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	79048	SECISBP2	OMIM:609698
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	169792	GLIS3	OMIM:610199
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	5573	PRKAR1A	OMIM:101800
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	50485	SMARCAL1	OMIM:242900
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	5696	PSMB8	OMIM:256040
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	7253	TSHR	OMIM:275200
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	7253	TSHR	ORPHA:90673
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	55186	SLC25A36	OMIM:620211
HP:0002926	Abnormality of thyroid physiology	11198	SUPT16H	ORPHA:261229
HP:0002926	Abnormality of thyroid physiology	57680	CHD8	ORPHA:261229
HP:0002926	Abnormality of thyroid physiology	57680	CHD8	OMIM:615032
HP:0002926	Abnormality of thyroid physiology	83483	PLVAP	OMIM:618183
HP:0002926	Abnormality of thyroid physiology	7528	YY1	ORPHA:506358
HP:0002926	Abnormality of thyroid physiology	2304	FOXE1	OMIM:241850
HP:0002926	Abnormality of thyroid physiology	2304	FOXE1	ORPHA:95713
HP:0002926	Abnormality of thyroid physiology	1763	DNA2	OMIM:620819
HP:0002926	Abnormality of thyroid physiology	2904	GRIN2B	OMIM:613970
HP:0002926	Abnormality of thyroid physiology	84515	MCM8	OMIM:612885
HP:0002926	Abnormality of thyroid physiology	987	LRBA	OMIM:614700
HP:0002926	Abnormality of thyroid physiology	64682	ANAPC1	OMIM:618625
HP:0002926	Abnormality of thyroid physiology	64682	ANAPC1	ORPHA:221008
HP:0002926	Abnormality of thyroid physiology	7518	XRCC4	ORPHA:99812
HP:0002926	Abnormality of thyroid physiology	7518	XRCC4	OMIM:616541
HP:0002926	Abnormality of thyroid physiology	3981	LIG4	ORPHA:99812
HP:0002926	Abnormality of thyroid physiology	3981	LIG4	OMIM:606593
HP:0002926	Abnormality of thyroid physiology	3981	LIG4	ORPHA:39041
HP:0002926	Abnormality of thyroid physiology	3766	KCNJ10	ORPHA:705
HP:0002926	Abnormality of thyroid physiology	2299	FOXI1	ORPHA:705
HP:0002926	Abnormality of thyroid physiology	5172	SLC26A4	ORPHA:705
HP:0002926	Abnormality of thyroid physiology	5172	SLC26A4	ORPHA:95720
HP:0002926	Abnormality of thyroid physiology	5172	SLC26A4	ORPHA:95713
HP:0002926	Abnormality of thyroid physiology	64324	NSD1	ORPHA:821
HP:0002926	Abnormality of thyroid physiology	10297	APC2	ORPHA:821
HP:0002926	Abnormality of thyroid physiology	3190	HNRNPK	ORPHA:453504
HP:0002926	Abnormality of thyroid physiology	3190	HNRNPK	ORPHA:352665
HP:0002926	Abnormality of thyroid physiology	7849	PAX8	OMIM:218700
HP:0002926	Abnormality of thyroid physiology	7849	PAX8	ORPHA:95720
HP:0002926	Abnormality of thyroid physiology	7849	PAX8	ORPHA:95713
HP:0002926	Abnormality of thyroid physiology	7849	PAX8	ORPHA:95712
HP:0002926	Abnormality of thyroid physiology	6658	SOX3	OMIM:300123
HP:0002926	Abnormality of thyroid physiology	197131	UBR1	OMIM:243800
HP:0002926	Abnormality of thyroid physiology	7018	TF	ORPHA:1195
HP:0002926	Abnormality of thyroid physiology	4141	MARS1	OMIM:615486
HP:0002926	Abnormality of thyroid physiology	8456	FOXN1	ORPHA:83471
HP:0002926	Abnormality of thyroid physiology	2314	FLII	ORPHA:819
HP:0002926	Abnormality of thyroid physiology	23096	IQSEC2	ORPHA:819
HP:0002926	Abnormality of thyroid physiology	10743	RAI1	ORPHA:819
HP:0002926	Abnormality of thyroid physiology	10522	DEAF1	ORPHA:819
HP:0002926	Abnormality of thyroid physiology	3716	JAK1	OMIM:618999
HP:0002926	Abnormality of thyroid physiology	10908	PNPLA6	OMIM:275400
HP:0002926	Abnormality of thyroid physiology	10908	PNPLA6	ORPHA:3363
HP:0002926	Abnormality of thyroid physiology	79048	SECISBP2	OMIM:609698
HP:0002926	Abnormality of thyroid physiology	4038	LRP4	ORPHA:3258
HP:0002926	Abnormality of thyroid physiology	324	APC	ORPHA:3258
HP:0002926	Abnormality of thyroid physiology	4868	NPHS1	OMIM:256300
HP:0002926	Abnormality of thyroid physiology	2260	FGFR1	ORPHA:280200
HP:0002926	Abnormality of thyroid physiology	28514	DLL1	ORPHA:280200
HP:0002926	Abnormality of thyroid physiology	2253	FGF8	ORPHA:280200
HP:0002926	Abnormality of thyroid physiology	6496	SIX3	ORPHA:280200
HP:0002926	Abnormality of thyroid physiology	7050	TGIF1	ORPHA:280200
HP:0002926	Abnormality of thyroid physiology	4838	NODAL	ORPHA:280200
HP:0002926	Abnormality of thyroid physiology	6469	SHH	ORPHA:280200
HP:0002926	Abnormality of thyroid physiology	51684	SUFU	ORPHA:280200
HP:0002926	Abnormality of thyroid physiology	7546	ZIC2	ORPHA:280200
HP:0002926	Abnormality of thyroid physiology	2619	GAS1	ORPHA:280200
HP:0002926	Abnormality of thyroid physiology	84976	DISP1	ORPHA:280200
HP:0002926	Abnormality of thyroid physiology	2736	GLI2	ORPHA:280200
HP:0002926	Abnormality of thyroid physiology	8928	FOXH1	ORPHA:280200
HP:0002926	Abnormality of thyroid physiology	6997	CRIPTO	ORPHA:280200
HP:0002926	Abnormality of thyroid physiology	5727	PTCH1	ORPHA:280200
HP:0002926	Abnormality of thyroid physiology	50937	CDON	ORPHA:280200
HP:0002926	Abnormality of thyroid physiology	50937	CDON	ORPHA:95496
HP:0002926	Abnormality of thyroid physiology	54	ACP5	OMIM:607944
HP:0002926	Abnormality of thyroid physiology	54	ACP5	ORPHA:1855
HP:0002926	Abnormality of thyroid physiology	6772	STAT1	OMIM:614162
HP:0002926	Abnormality of thyroid physiology	23250	ATP11A	OMIM:619851
HP:0002926	Abnormality of thyroid physiology	284058	KANSL1	ORPHA:363958
HP:0002926	Abnormality of thyroid physiology	284058	KANSL1	ORPHA:363965
HP:0002926	Abnormality of thyroid physiology	55870	ASH1L	OMIM:617796
HP:0002926	Abnormality of thyroid physiology	4509	MT-ATP8	ORPHA:254913
HP:0002926	Abnormality of thyroid physiology	514	ATP5F1E	ORPHA:254913
HP:0002926	Abnormality of thyroid physiology	513	ATP5F1D	ORPHA:254913
HP:0002926	Abnormality of thyroid physiology	498	ATP5F1A	ORPHA:254913
HP:0002926	Abnormality of thyroid physiology	4508	MT-ATP6	ORPHA:254913
HP:0002926	Abnormality of thyroid physiology	84833	ATP5MK	ORPHA:254913
HP:0002926	Abnormality of thyroid physiology	91647	ATPAF2	ORPHA:254913
HP:0002926	Abnormality of thyroid physiology	23522	KAT6B	OMIM:606170
HP:0002926	Abnormality of thyroid physiology	23522	KAT6B	OMIM:603736
HP:0002926	Abnormality of thyroid physiology	23522	KAT6B	ORPHA:3047
HP:0002926	Abnormality of thyroid physiology	93627	TBCK	OMIM:616900
HP:0002926	Abnormality of thyroid physiology	93627	TBCK	ORPHA:488632
HP:0002926	Abnormality of thyroid physiology	7840	ALMS1	OMIM:203800
HP:0002926	Abnormality of thyroid physiology	2332	FMR1	ORPHA:93256
HP:0002926	Abnormality of thyroid physiology	2332	FMR1	ORPHA:449291
HP:0002926	Abnormality of thyroid physiology	2332	FMR1	OMIM:300623
HP:0002926	Abnormality of thyroid physiology	10020	GNE	ORPHA:602
HP:0002926	Abnormality of thyroid physiology	6899	TBX1	OMIM:188400
HP:0002926	Abnormality of thyroid physiology	6899	TBX1	ORPHA:567
HP:0002926	Abnormality of thyroid physiology	7466	WFS1	OMIM:222300
HP:0002926	Abnormality of thyroid physiology	7466	WFS1	ORPHA:411590
HP:0002926	Abnormality of thyroid physiology	652	BMP4	OMIM:607932
HP:0002926	Abnormality of thyroid physiology	9184	BUB3	ORPHA:1052
HP:0002926	Abnormality of thyroid physiology	699	BUB1	ORPHA:1052
HP:0002926	Abnormality of thyroid physiology	9702	CEP57	ORPHA:1052
HP:0002926	Abnormality of thyroid physiology	9702	CEP57	OMIM:614114
HP:0002926	Abnormality of thyroid physiology	9319	TRIP13	ORPHA:1052
HP:0002926	Abnormality of thyroid physiology	701	BUB1B	ORPHA:1052
HP:0002926	Abnormality of thyroid physiology	51651	PTRH2	ORPHA:456312
HP:0002926	Abnormality of thyroid physiology	51651	PTRH2	OMIM:616263
HP:0002926	Abnormality of thyroid physiology	2992	GYG1	ORPHA:263297
HP:0002926	Abnormality of thyroid physiology	55148	UBR7	OMIM:619189
HP:0002926	Abnormality of thyroid physiology	1482	NKX2-5	OMIM:225250
HP:0002926	Abnormality of thyroid physiology	1482	NKX2-5	ORPHA:95713
HP:0002926	Abnormality of thyroid physiology	1482	NKX2-5	ORPHA:95712
HP:0002926	Abnormality of thyroid physiology	55636	CHD7	OMIM:214800
HP:0002926	Abnormality of thyroid physiology	55636	CHD7	ORPHA:39041
HP:0002926	Abnormality of thyroid physiology	79053	ALG8	OMIM:608104
HP:0002926	Abnormality of thyroid physiology	26834	RNU4-2	OMIM:620851
HP:0002926	Abnormality of thyroid physiology	5373	PMM2	OMIM:212065
HP:0002926	Abnormality of thyroid physiology	92482	BBIP1	ORPHA:110
HP:0002926	Abnormality of thyroid physiology	80184	CEP290	ORPHA:110
HP:0002926	Abnormality of thyroid physiology	11020	IFT27	ORPHA:110
HP:0002926	Abnormality of thyroid physiology	582	BBS1	ORPHA:110
HP:0002926	Abnormality of thyroid physiology	49855	SCAPER	ORPHA:110
HP:0002926	Abnormality of thyroid physiology	4867	NPHP1	ORPHA:110
HP:0002926	Abnormality of thyroid physiology	51057	WDPCP	ORPHA:110
HP:0002926	Abnormality of thyroid physiology	132320	SCLT1	ORPHA:110
HP:0002926	Abnormality of thyroid physiology	27241	BBS9	ORPHA:110
HP:0002926	Abnormality of thyroid physiology	84984	CEP19	ORPHA:110
HP:0002926	Abnormality of thyroid physiology	22954	TRIM32	ORPHA:110
HP:0002926	Abnormality of thyroid physiology	54903	MKS1	ORPHA:110
HP:0002926	Abnormality of thyroid physiology	79738	BBS10	ORPHA:110
HP:0002926	Abnormality of thyroid physiology	123016	TTC8	ORPHA:110
HP:0002926	Abnormality of thyroid physiology	26160	IFT172	ORPHA:110
HP:0002926	Abnormality of thyroid physiology	583	BBS2	ORPHA:110
HP:0002926	Abnormality of thyroid physiology	585	BBS4	ORPHA:110
HP:0002926	Abnormality of thyroid physiology	8195	MKKS	ORPHA:110
HP:0002926	Abnormality of thyroid physiology	54585	LZTFL1	ORPHA:110
HP:0002926	Abnormality of thyroid physiology	55212	BBS7	ORPHA:110
HP:0002926	Abnormality of thyroid physiology	166379	BBS12	ORPHA:110
HP:0002926	Abnormality of thyroid physiology	10806	SDCCAG8	ORPHA:110
HP:0002926	Abnormality of thyroid physiology	157657	CFAP418	ORPHA:110
HP:0002926	Abnormality of thyroid physiology	84100	ARL6	ORPHA:110
HP:0002926	Abnormality of thyroid physiology	129880	BBS5	ORPHA:110
HP:0002926	Abnormality of thyroid physiology	80173	IFT74	ORPHA:110
HP:0002926	Abnormality of thyroid physiology	3043	HBB	ORPHA:231214
HP:0002926	Abnormality of thyroid physiology	3043	HBB	ORPHA:231222
HP:0002926	Abnormality of thyroid physiology	3043	HBB	ORPHA:231226
HP:0002926	Abnormality of thyroid physiology	388662	SLC6A17	ORPHA:457212
HP:0002926	Abnormality of thyroid physiology	8879	SGPL1	OMIM:617575
HP:0002926	Abnormality of thyroid physiology	3572	IL6ST	OMIM:619750
HP:0002926	Abnormality of thyroid physiology	1593	CYP27A1	ORPHA:909
HP:0002926	Abnormality of thyroid physiology	6774	STAT3	OMIM:615952
HP:0002926	Abnormality of thyroid physiology	25981	DNAH1	OMIM:617577
HP:0002926	Abnormality of thyroid physiology	6804	STX1A	ORPHA:904
HP:0002926	Abnormality of thyroid physiology	7461	CLIP2	ORPHA:904
HP:0002926	Abnormality of thyroid physiology	84277	DNAJC30	ORPHA:904
HP:0002926	Abnormality of thyroid physiology	8468	FKBP6	ORPHA:904
HP:0002926	Abnormality of thyroid physiology	5982	RFC2	ORPHA:904
HP:0002926	Abnormality of thyroid physiology	2969	GTF2I	ORPHA:904
HP:0002926	Abnormality of thyroid physiology	3984	LIMK1	ORPHA:904
HP:0002926	Abnormality of thyroid physiology	9569	GTF2IRD1	ORPHA:904
HP:0002926	Abnormality of thyroid physiology	155382	VPS37D	ORPHA:904
HP:0002926	Abnormality of thyroid physiology	155368	METTL27	ORPHA:904
HP:0002926	Abnormality of thyroid physiology	114049	BUD23	ORPHA:904
HP:0002926	Abnormality of thyroid physiology	7458	EIF4H	ORPHA:904
HP:0002926	Abnormality of thyroid physiology	84163	GTF2IRD2	ORPHA:904
HP:0002926	Abnormality of thyroid physiology	26608	TBL2	ORPHA:904
HP:0002926	Abnormality of thyroid physiology	653361	NCF1	ORPHA:904
HP:0002926	Abnormality of thyroid physiology	135886	TMEM270	ORPHA:904
HP:0002926	Abnormality of thyroid physiology	9031	BAZ1B	ORPHA:904
HP:0002926	Abnormality of thyroid physiology	2006	ELN	ORPHA:904
HP:0002926	Abnormality of thyroid physiology	2006	ELN	OMIM:194050
HP:0002926	Abnormality of thyroid physiology	54440	SASH3	OMIM:301082
HP:0002926	Abnormality of thyroid physiology	5590	PRKCZ	ORPHA:1606
HP:0002926	Abnormality of thyroid physiology	2563	GABRD	ORPHA:1606
HP:0002926	Abnormality of thyroid physiology	23013	SPEN	ORPHA:1606
HP:0002926	Abnormality of thyroid physiology	8510	MMP23B	ORPHA:1606
HP:0002926	Abnormality of thyroid physiology	7798	LUZP1	ORPHA:1606
HP:0002926	Abnormality of thyroid physiology	6497	SKI	ORPHA:1606
HP:0002926	Abnormality of thyroid physiology	10630	PDPN	ORPHA:1606
HP:0002926	Abnormality of thyroid physiology	3339	HSPG2	ORPHA:1606
HP:0002926	Abnormality of thyroid physiology	10277	UBE4B	ORPHA:1606
HP:0002926	Abnormality of thyroid physiology	8514	KCNAB2	ORPHA:1606
HP:0002926	Abnormality of thyroid physiology	473	RERE	ORPHA:1606
HP:0002926	Abnormality of thyroid physiology	63976	PRDM16	ORPHA:1606
HP:0002926	Abnormality of thyroid physiology	54897	CASZ1	ORPHA:1606
HP:0002926	Abnormality of thyroid physiology	6329	SCN4A	ORPHA:99736
HP:0002926	Abnormality of thyroid physiology	128674	PROKR2	ORPHA:95496
HP:0002926	Abnormality of thyroid physiology	89884	LHX4	ORPHA:95496
HP:0002926	Abnormality of thyroid physiology	89884	LHX4	OMIM:262700
HP:0002926	Abnormality of thyroid physiology	55717	WDR11	ORPHA:95496
HP:0002926	Abnormality of thyroid physiology	6091	ROBO1	ORPHA:95496
HP:0002926	Abnormality of thyroid physiology	8820	HESX1	ORPHA:95496
HP:0002926	Abnormality of thyroid physiology	23432	GPR161	ORPHA:95496
HP:0002926	Abnormality of thyroid physiology	8085	KMT2D	OMIM:620186
HP:0002926	Abnormality of thyroid physiology	8085	KMT2D	OMIM:147920
HP:0002926	Abnormality of thyroid physiology	2517	FUCA1	ORPHA:349
HP:0002926	Abnormality of thyroid physiology	7173	TPO	OMIM:274500
HP:0002926	Abnormality of thyroid physiology	55719	SLF2	OMIM:620184
HP:0002926	Abnormality of thyroid physiology	26137	ZBTB20	OMIM:259050
HP:0002926	Abnormality of thyroid physiology	27086	FOXP1	ORPHA:391372
HP:0002926	Abnormality of thyroid physiology	5205	ATP8B1	ORPHA:69665
HP:0002926	Abnormality of thyroid physiology	8647	ABCB11	ORPHA:69665
HP:0002926	Abnormality of thyroid physiology	5244	ABCB4	ORPHA:69665
HP:0002926	Abnormality of thyroid physiology	9971	NR1H4	ORPHA:69665
HP:0002926	Abnormality of thyroid physiology	6288	SAA1	ORPHA:85445
HP:0002926	Abnormality of thyroid physiology	3481	IGF2	ORPHA:397590
HP:0002926	Abnormality of thyroid physiology	1028	CDKN1C	ORPHA:397590
HP:0002926	Abnormality of thyroid physiology	5324	PLAG1	ORPHA:397590
HP:0002926	Abnormality of thyroid physiology	8091	HMGA2	ORPHA:397590
HP:0002926	Abnormality of thyroid physiology	84634	KISS1R	OMIM:176400
HP:0002926	Abnormality of thyroid physiology	64135	IFIH1	OMIM:615846
HP:0002926	Abnormality of thyroid physiology	64135	IFIH1	ORPHA:51
HP:0002926	Abnormality of thyroid physiology	7248	TSC1	OMIM:191100
HP:0002926	Abnormality of thyroid physiology	111	ADCY5	OMIM:619647
HP:0002926	Abnormality of thyroid physiology	84919	PPP1R15B	OMIM:616817
HP:0002926	Abnormality of thyroid physiology	84919	PPP1R15B	ORPHA:391408
HP:0002926	Abnormality of thyroid physiology	7841	MOGS	ORPHA:79330
HP:0002926	Abnormality of thyroid physiology	3662	IRF4	ORPHA:3452
HP:0002926	Abnormality of thyroid physiology	2683	B4GALT1	ORPHA:79332
HP:0002926	Abnormality of thyroid physiology	51085	MLXIPL	OMIM:194050
HP:0002926	Abnormality of thyroid physiology	4351	MPI	ORPHA:79319
HP:0002926	Abnormality of thyroid physiology	775	CACNA1C	OMIM:601005
HP:0002926	Abnormality of thyroid physiology	326	AIRE	OMIM:240300
HP:0002926	Abnormality of thyroid physiology	85365	ALG2	OMIM:607906
HP:0002926	Abnormality of thyroid physiology	5286	PIK3C2A	OMIM:618440
HP:0002926	Abnormality of thyroid physiology	10661	KLF1	OMIM:613673
HP:0002926	Abnormality of thyroid physiology	3977	LIFR	ORPHA:3206
HP:0002926	Abnormality of thyroid physiology	2778	GNAS	OMIM:612462
HP:0002926	Abnormality of thyroid physiology	2778	GNAS	OMIM:103580
HP:0002926	Abnormality of thyroid physiology	50943	FOXP3	ORPHA:37042
HP:0002926	Abnormality of thyroid physiology	50943	FOXP3	OMIM:304790
HP:0002926	Abnormality of thyroid physiology	654	BMP6	ORPHA:465508
HP:0002926	Abnormality of thyroid physiology	3077	HFE	ORPHA:465508
HP:0002926	Abnormality of thyroid physiology	374969	SVBP	OMIM:618569
HP:0002926	Abnormality of thyroid physiology	3242	HPD	ORPHA:2118
HP:0002926	Abnormality of thyroid physiology	6528	SLC5A5	OMIM:274400
HP:0002926	Abnormality of thyroid physiology	3081	HGD	ORPHA:56
HP:0002926	Abnormality of thyroid physiology	1642	DDB1	OMIM:619426
HP:0002926	Abnormality of thyroid physiology	3559	IL2RA	OMIM:606367
HP:0002926	Abnormality of thyroid physiology	78987	CRELD1	OMIM:620771
HP:0002926	Abnormality of thyroid physiology	10535	RNASEH2A	ORPHA:51
HP:0002926	Abnormality of thyroid physiology	84153	RNASEH2C	ORPHA:51
HP:0002926	Abnormality of thyroid physiology	25939	SAMHD1	ORPHA:51
HP:0002926	Abnormality of thyroid physiology	79621	RNASEH2B	ORPHA:51
HP:0002926	Abnormality of thyroid physiology	103	ADAR	ORPHA:51
HP:0002926	Abnormality of thyroid physiology	11277	TREX1	ORPHA:51
HP:0002926	Abnormality of thyroid physiology	11277	TREX1	OMIM:225750
HP:0002926	Abnormality of thyroid physiology	100147744	RNU7-1	ORPHA:51
HP:0002926	Abnormality of thyroid physiology	100147744	RNU7-1	OMIM:619487
HP:0002926	Abnormality of thyroid physiology	134353	LSM11	ORPHA:51
HP:0002926	Abnormality of thyroid physiology	84181	CHD6	ORPHA:2108
HP:0002926	Abnormality of thyroid physiology	291	SLC25A4	ORPHA:254892
HP:0002926	Abnormality of thyroid physiology	5428	POLG	ORPHA:254892
HP:0002926	Abnormality of thyroid physiology	56652	TWNK	ORPHA:254892
HP:0002926	Abnormality of thyroid physiology	11232	POLG2	ORPHA:254892
HP:0002926	Abnormality of thyroid physiology	50484	RRM2B	ORPHA:254892
HP:0002926	Abnormality of thyroid physiology	4558	MT-TF	ORPHA:550
HP:0002926	Abnormality of thyroid physiology	4572	MT-TQ	ORPHA:550
HP:0002926	Abnormality of thyroid physiology	4512	MT-CO1	ORPHA:550
HP:0002926	Abnormality of thyroid physiology	4513	MT-CO2	ORPHA:550
HP:0002926	Abnormality of thyroid physiology	4514	MT-CO3	ORPHA:550
HP:0002926	Abnormality of thyroid physiology	4578	MT-TW	ORPHA:550
HP:0002926	Abnormality of thyroid physiology	4540	MT-ND5	ORPHA:550
HP:0002926	Abnormality of thyroid physiology	4541	MT-ND6	ORPHA:550
HP:0002926	Abnormality of thyroid physiology	4535	MT-ND1	ORPHA:550
HP:0002926	Abnormality of thyroid physiology	4538	MT-ND4	ORPHA:550
HP:0002926	Abnormality of thyroid physiology	4567	MT-TL1	ORPHA:550
HP:0002926	Abnormality of thyroid physiology	4567	MT-TL1	ORPHA:663
HP:0002926	Abnormality of thyroid physiology	4574	MT-TS1	ORPHA:550
HP:0002926	Abnormality of thyroid physiology	4574	MT-TS1	ORPHA:663
HP:0002926	Abnormality of thyroid physiology	4575	MT-TS2	ORPHA:550
HP:0002926	Abnormality of thyroid physiology	4564	MT-TH	ORPHA:550
HP:0002926	Abnormality of thyroid physiology	1859	DYRK1A	ORPHA:268261
HP:0002926	Abnormality of thyroid physiology	9780	PIEZO1	OMIM:616843
HP:0002926	Abnormality of thyroid physiology	10785	WDR4	OMIM:618347
HP:0002926	Abnormality of thyroid physiology	50506	DUOX2	OMIM:607200
HP:0002926	Abnormality of thyroid physiology	81570	CLPB	ORPHA:445038
HP:0002926	Abnormality of thyroid physiology	2258	FGF13	OMIM:301058
HP:0002926	Abnormality of thyroid physiology	27125	AFF4	ORPHA:444077
HP:0002926	Abnormality of thyroid physiology	4568	MT-TL2	ORPHA:663
HP:0002926	Abnormality of thyroid physiology	4570	MT-TN	ORPHA:663
HP:0002926	Abnormality of thyroid physiology	6299	SALL1	OMIM:107480
HP:0002926	Abnormality of thyroid physiology	6299	SALL1	ORPHA:857
HP:0002926	Abnormality of thyroid physiology	29998	BICRA	OMIM:619325
HP:0002926	Abnormality of thyroid physiology	113179	ADAT3	ORPHA:363528
HP:0002926	Abnormality of thyroid physiology	3547	IGSF1	OMIM:300888
HP:0002926	Abnormality of thyroid physiology	55215	FANCI	OMIM:609053
HP:0002926	Abnormality of thyroid physiology	7200	TRH	OMIM:275120
HP:0002926	Abnormality of thyroid physiology	1027	CDKN1B	OMIM:610755
HP:0002926	Abnormality of thyroid physiology	868	CBLB	OMIM:620430
HP:0002926	Abnormality of thyroid physiology	348	APOE	ORPHA:412
HP:0002926	Abnormality of thyroid physiology	3767	KCNJ11	ORPHA:99886
HP:0002926	Abnormality of thyroid physiology	346171	ZFP57	ORPHA:99886
HP:0002926	Abnormality of thyroid physiology	57061	HYMAI	ORPHA:99886
HP:0002926	Abnormality of thyroid physiology	6833	ABCC8	ORPHA:99886
HP:0002926	Abnormality of thyroid physiology	5325	PLAGL1	ORPHA:99886
HP:0002926	Abnormality of thyroid physiology	7253	TSHR	ORPHA:95720
HP:0002926	Abnormality of thyroid physiology	7253	TSHR	ORPHA:95713
HP:0002926	Abnormality of thyroid physiology	7253	TSHR	OMIM:275200
HP:0002926	Abnormality of thyroid physiology	2542	SLC37A4	ORPHA:79259
HP:0002926	Abnormality of thyroid physiology	10059	DNM1L	ORPHA:98673
HP:0002926	Abnormality of thyroid physiology	4976	OPA1	ORPHA:98673
HP:0002926	Abnormality of thyroid physiology	2530	FUT8	OMIM:618005
HP:0002926	Abnormality of thyroid physiology	55240	STEAP3	ORPHA:300298
HP:0002926	Abnormality of thyroid physiology	7080	NKX2-1	ORPHA:95713
HP:0002926	Abnormality of thyroid physiology	4358	MPV17	OMIM:256810
HP:0002926	Abnormality of thyroid physiology	201163	FLCN	OMIM:610883
HP:0002926	Abnormality of thyroid physiology	708	C1QBP	OMIM:617713
HP:0002926	Abnormality of thyroid physiology	2917	GRM7	OMIM:618922
HP:0002926	Abnormality of thyroid physiology	11145	PLAAT3	OMIM:620683
HP:0002926	Abnormality of thyroid physiology	1312	COMT	ORPHA:567
HP:0002926	Abnormality of thyroid physiology	221037	JMJD1C	ORPHA:567
HP:0002926	Abnormality of thyroid physiology	2812	GP1BB	ORPHA:567
HP:0002926	Abnormality of thyroid physiology	6239	RREB1	ORPHA:567
HP:0002926	Abnormality of thyroid physiology	7290	HIRA	ORPHA:567
HP:0002926	Abnormality of thyroid physiology	9632	SEC24C	ORPHA:567
HP:0002926	Abnormality of thyroid physiology	7353	UFD1	ORPHA:567
HP:0002926	Abnormality of thyroid physiology	421	ARVCF	ORPHA:567
HP:0002926	Abnormality of thyroid physiology	4547	MTTP	ORPHA:14
HP:0002926	Abnormality of thyroid physiology	112812	FDX2	OMIM:251900
HP:0002926	Abnormality of thyroid physiology	3293	HSD17B3	OMIM:264300
HP:0002926	Abnormality of thyroid physiology	3293	HSD17B3	ORPHA:752
HP:0002926	Abnormality of thyroid physiology	128989	TANGO2	OMIM:616878
HP:0002926	Abnormality of thyroid physiology	55186	SLC25A36	OMIM:620211
HP:0002926	Abnormality of thyroid physiology	56244	BTNL2	ORPHA:797
HP:0002926	Abnormality of thyroid physiology	3123	HLA-DRB1	ORPHA:797
HP:0002926	Abnormality of thyroid physiology	7074	TIAM1	OMIM:619908
HP:0002926	Abnormality of thyroid physiology	9757	KMT2B	ORPHA:589618
HP:0002926	Abnormality of thyroid physiology	84265	POLR3GL	OMIM:619234
HP:0002926	Abnormality of thyroid physiology	57003	CCDC47	OMIM:618268
HP:0002926	Abnormality of thyroid physiology	10526	IPO8	OMIM:619472
HP:0002926	Abnormality of thyroid physiology	2643	GCH1	ORPHA:98808
HP:0002926	Abnormality of thyroid physiology	4929	NR4A2	ORPHA:98808
HP:0002926	Abnormality of thyroid physiology	3615	IMPDH2	ORPHA:98808
HP:0002926	Abnormality of thyroid physiology	3458	IFNG	OMIM:613254
HP:0002926	Abnormality of thyroid physiology	7249	TSC2	OMIM:613254
HP:0002926	Abnormality of thyroid physiology	23040	MYT1L	OMIM:616521
HP:0002926	Abnormality of thyroid physiology	6023	RMRP	ORPHA:39041
HP:0002926	Abnormality of thyroid physiology	5896	RAG1	ORPHA:39041
HP:0002926	Abnormality of thyroid physiology	5897	RAG2	ORPHA:39041
HP:0002926	Abnormality of thyroid physiology	64421	DCLRE1C	ORPHA:39041
HP:0002926	Abnormality of thyroid physiology	100	ADA	ORPHA:39041
HP:0002926	Abnormality of thyroid physiology	3575	IL7R	ORPHA:39041
HP:0002926	Abnormality of thyroid physiology	3561	IL2RG	ORPHA:39041
HP:0002926	Abnormality of thyroid physiology	6928	HNF1B	ORPHA:93111
HP:0002926	Abnormality of thyroid physiology	4796	TONSL	ORPHA:93357
HP:0002926	Abnormality of thyroid physiology	8405	SPOP	OMIM:618829
HP:0002926	Abnormality of thyroid physiology	2132	EXT2	ORPHA:52022
HP:0002926	Abnormality of thyroid physiology	60529	ALX4	ORPHA:52022
HP:0002926	Abnormality of thyroid physiology	51317	PHF21A	ORPHA:52022
HP:0002926	Abnormality of thyroid physiology	405753	DUOXA2	OMIM:274900
HP:0002926	Abnormality of thyroid physiology	5728	PTEN	OMIM:158350
HP:0002926	Abnormality of thyroid physiology	54880	BCOR	OMIM:300166
HP:0002926	Abnormality of thyroid physiology	83737	ITCH	OMIM:613385
HP:0002926	Abnormality of thyroid physiology	83737	ITCH	ORPHA:228426
HP:0002926	Abnormality of thyroid physiology	2890	GRIA1	OMIM:619927
HP:0002926	Abnormality of thyroid physiology	51339	DACT1	ORPHA:857
HP:0002926	Abnormality of thyroid physiology	93587	TRMT10A	ORPHA:391408
HP:0002926	Abnormality of thyroid physiology	2767	GNA11	ORPHA:1556
HP:0002926	Abnormality of thyroid physiology	151188	ARL6IP6	ORPHA:1556
HP:0002926	Abnormality of thyroid physiology	9759	HDAC4	OMIM:600430
HP:0002926	Abnormality of thyroid physiology	2193	FARSA	OMIM:619013
HP:0002926	Abnormality of thyroid physiology	10273	STUB1	ORPHA:412057
HP:0002926	Abnormality of thyroid physiology	4194	MDM4	OMIM:618849
HP:0002926	Abnormality of thyroid physiology	131118	DNAJC19	ORPHA:66634
HP:0002926	Abnormality of thyroid physiology	5449	POU1F1	OMIM:613038
HP:0002926	Abnormality of thyroid physiology	5557	PRIM1	OMIM:620005
HP:0002926	Abnormality of thyroid physiology	3643	INSR	ORPHA:769
HP:0002926	Abnormality of thyroid physiology	9451	EIF2AK3	ORPHA:1667
HP:0002926	Abnormality of thyroid physiology	79644	SRD5A3	ORPHA:324737
HP:0002926	Abnormality of thyroid physiology	389434	IYD	OMIM:274800
HP:0002926	Abnormality of thyroid physiology	1604	CD55	OMIM:226300
HP:0002926	Abnormality of thyroid physiology	3735	KARS1	OMIM:619147
HP:0002926	Abnormality of thyroid physiology	5626	PROP1	OMIM:262600
HP:0002926	Abnormality of thyroid physiology	23404	EXOSC2	OMIM:617763
HP:0002926	Abnormality of thyroid physiology	7543	ZFX	OMIM:301118
HP:0002926	Abnormality of thyroid physiology	9652	SKIC3	ORPHA:84064
HP:0002926	Abnormality of thyroid physiology	6499	SKIC2	ORPHA:84064
HP:0002926	Abnormality of thyroid physiology	6736	SRY	ORPHA:1772
HP:0002926	Abnormality of thyroid physiology	5290	PIK3CA	OMIM:615108
HP:0002926	Abnormality of thyroid physiology	207	AKT1	OMIM:615109
HP:0002926	Abnormality of thyroid physiology	7252	TSHB	OMIM:275100
HP:0002926	Abnormality of thyroid physiology	7403	KDM6A	OMIM:147920
HP:0002926	Abnormality of thyroid physiology	1650	DDOST	ORPHA:300536
HP:0002926	Abnormality of thyroid physiology	55154	MSTO1	OMIM:617675
HP:0002926	Abnormality of thyroid physiology	55154	MSTO1	ORPHA:502423
HP:0002926	Abnormality of thyroid physiology	7068	THRB	OMIM:145650
HP:0002926	Abnormality of thyroid physiology	100134444	KCNJ18	OMIM:613239
HP:0002926	Abnormality of thyroid physiology	100134444	KCNJ18	ORPHA:79102
HP:0002926	Abnormality of thyroid physiology	3759	KCNJ2	OMIM:170390
HP:0002926	Abnormality of thyroid physiology	2556	GABRA3	ORPHA:79102
HP:0002926	Abnormality of thyroid physiology	779	CACNA1S	ORPHA:79102
HP:0002926	Abnormality of thyroid physiology	779	CACNA1S	OMIM:188580
HP:0002926	Abnormality of thyroid physiology	79783	SUGCT	OMIM:231690
HP:0002926	Abnormality of thyroid physiology	64072	CDH23	ORPHA:91347
HP:0002926	Abnormality of thyroid physiology	9817	KEAP1	ORPHA:276399
HP:0002926	Abnormality of thyroid physiology	23405	DICER1	ORPHA:276399
HP:0002926	Abnormality of thyroid physiology	11128	POLR3A	ORPHA:3455
HP:0002926	Abnormality of thyroid physiology	2627	GATA6	ORPHA:2255
HP:0002926	Abnormality of thyroid physiology	145173	B3GLCT	ORPHA:709
HP:0002926	Abnormality of thyroid physiology	526	ATP6V1B2	ORPHA:79500
HP:0002926	Abnormality of thyroid physiology	57465	TBC1D24	ORPHA:79500
HP:0002926	Abnormality of thyroid physiology	56246	MRAP	ORPHA:361
HP:0002926	Abnormality of thyroid physiology	6770	STAR	ORPHA:361
HP:0002926	Abnormality of thyroid physiology	4158	MC2R	ORPHA:361
HP:0002926	Abnormality of thyroid physiology	23530	NNT	ORPHA:361
HP:0002926	Abnormality of thyroid physiology	23530	NNT	OMIM:614736
HP:0002926	Abnormality of thyroid physiology	10587	TXNRD2	ORPHA:361
HP:0002926	Abnormality of thyroid physiology	83696	TRAPPC9	ORPHA:352530
HP:0002926	Abnormality of thyroid physiology	92949	ADAMTSL1	ORPHA:521445
HP:0002926	Abnormality of thyroid physiology	2782	GNB1	OMIM:616973
HP:0002926	Abnormality of thyroid physiology	169792	GLIS3	OMIM:610199
HP:0002926	Abnormality of thyroid physiology	5144	PDE4D	OMIM:614613
HP:0002926	Abnormality of thyroid physiology	9373	PLAA	OMIM:617527
HP:0002926	Abnormality of thyroid physiology	5573	PRKAR1A	OMIM:101800
HP:0002926	Abnormality of thyroid physiology	79693	YRDC	OMIM:619609
HP:0002926	Abnormality of thyroid physiology	1387	CREBBP	ORPHA:592574
HP:0002926	Abnormality of thyroid physiology	50485	SMARCAL1	ORPHA:1830
HP:0002926	Abnormality of thyroid physiology	2626	GATA4	OMIM:615542
HP:0002926	Abnormality of thyroid physiology	6567	SLC16A2	ORPHA:59
HP:0002926	Abnormality of thyroid physiology	7555	CNBP	ORPHA:606
HP:0002926	Abnormality of thyroid physiology	8239	USP9X	OMIM:300968
HP:0002926	Abnormality of thyroid physiology	1497	CTNS	ORPHA:411629
HP:0002926	Abnormality of thyroid physiology	7067	THRA	OMIM:614450
HP:0002926	Abnormality of thyroid physiology	8314	BAP1	ORPHA:2495
HP:0002926	Abnormality of thyroid physiology	4771	NF2	ORPHA:2495
HP:0002926	Abnormality of thyroid physiology	6598	SMARCB1	ORPHA:2495
HP:0002926	Abnormality of thyroid physiology	5155	PDGFB	ORPHA:2495
HP:0002926	Abnormality of thyroid physiology	84231	TRAF7	ORPHA:2495
HP:0002926	Abnormality of thyroid physiology	6608	SMO	ORPHA:2495
HP:0002926	Abnormality of thyroid physiology	7015	TERT	ORPHA:2495
HP:0002926	Abnormality of thyroid physiology	6605	SMARCE1	ORPHA:2495
HP:0002926	Abnormality of thyroid physiology	2737	GLI3	ORPHA:672
HP:0002926	Abnormality of thyroid physiology	55131	RBM28	ORPHA:157954
HP:0002926	Abnormality of thyroid physiology	5122	PCSK1	ORPHA:71528
HP:0002926	Abnormality of thyroid physiology	3953	LEPR	OMIM:614963
HP:0002926	Abnormality of thyroid physiology	3953	LEPR	ORPHA:179494
HP:0002926	Abnormality of thyroid physiology	5443	POMC	ORPHA:71526
HP:0002926	Abnormality of thyroid physiology	83550	GPR101	ORPHA:963
HP:0002926	Abnormality of thyroid physiology	9049	AIP	ORPHA:963
HP:0002926	Abnormality of thyroid physiology	9049	AIP	ORPHA:2965
HP:0002926	Abnormality of thyroid physiology	91147	TMEM67	OMIM:602152
HP:0002926	Abnormality of thyroid physiology	3170	FOXA2	ORPHA:95494
HP:0002926	Abnormality of thyroid physiology	5015	OTX2	ORPHA:95494
HP:0002926	Abnormality of thyroid physiology	283987	HID1	OMIM:619983
HP:0002926	Abnormality of thyroid physiology	4221	MEN1	ORPHA:2965
HP:0002926	Abnormality of thyroid physiology	3952	LEP	ORPHA:66628
HP:0002926	Abnormality of thyroid physiology	9915	ARNT2	OMIM:615926
HP:0002926	Abnormality of thyroid physiology	5456	POU3F4	ORPHA:1435
HP:0002926	Abnormality of thyroid physiology	1499	CTNNB1	ORPHA:54595
HP:0002926	Abnormality of thyroid physiology	673	BRAF	ORPHA:54595
HP:0002926	Abnormality of thyroid physiology	213	ALB	OMIM:615999
HP:0002926	Abnormality of thyroid physiology	7276	TTR	OMIM:145680
HP:0002926	Abnormality of thyroid physiology	7234	TRU-TCA1-1	OMIM:620198
HP:0002926	Abnormality of thyroid physiology	7038	TG	ORPHA:95716
HP:0002926	Abnormality of thyroid physiology	6638	SNRPN	ORPHA:177904
HP:0002926	Abnormality of thyroid physiology	6638	SNRPN	ORPHA:177901
HP:0002926	Abnormality of thyroid physiology	6638	SNRPN	ORPHA:98754
HP:0002926	Abnormality of thyroid physiology	4692	NDN	ORPHA:177904
HP:0002926	Abnormality of thyroid physiology	4692	NDN	ORPHA:177901
HP:0002926	Abnormality of thyroid physiology	4692	NDN	ORPHA:98754
HP:0002926	Abnormality of thyroid physiology	54551	MAGEL2	ORPHA:177904
HP:0002926	Abnormality of thyroid physiology	54551	MAGEL2	ORPHA:177901
HP:0002926	Abnormality of thyroid physiology	54551	MAGEL2	ORPHA:398069
HP:0002926	Abnormality of thyroid physiology	54551	MAGEL2	ORPHA:98754
HP:0002926	Abnormality of thyroid physiology	4948	OCA2	ORPHA:177904
HP:0002926	Abnormality of thyroid physiology	4948	OCA2	ORPHA:177901
HP:0002926	Abnormality of thyroid physiology	4948	OCA2	ORPHA:98754
HP:0002926	Abnormality of thyroid physiology	6134	RPL10	OMIM:300998
HP:0002926	Abnormality of thyroid physiology	340533	NEXMIF	OMIM:300912
HP:0002926	Abnormality of thyroid physiology	23247	KATNIP	OMIM:616784
HP:0002926	Abnormality of thyroid physiology	23312	DMXL2	ORPHA:453533
HP:0002926	Abnormality of thyroid physiology	23312	DMXL2	OMIM:616113
HP:0002926	Abnormality of thyroid physiology	10735	STAG2	ORPHA:220386
HP:0002926	Abnormality of thyroid physiology	10735	STAG2	ORPHA:93925
HP:0002926	Abnormality of thyroid physiology	8243	SMC1A	ORPHA:220386
HP:0002926	Abnormality of thyroid physiology	6491	STIL	ORPHA:220386
HP:0002926	Abnormality of thyroid physiology	6491	STIL	ORPHA:93926
HP:0002926	Abnormality of thyroid physiology	6491	STIL	ORPHA:93924
HP:0002926	Abnormality of thyroid physiology	6491	STIL	ORPHA:93925
HP:0002926	Abnormality of thyroid physiology	2776	GNAQ	ORPHA:3205
HP:0002926	Abnormality of thyroid physiology	8471	IRS4	OMIM:301035
HP:0002926	Abnormality of thyroid physiology	6907	TBL1X	OMIM:301033
HP:0002926	Abnormality of thyroid physiology	51199	NIN	OMIM:614851
HP:0002926	Abnormality of thyroid physiology	6492	SIM1	ORPHA:398079
HP:0002926	Abnormality of thyroid physiology	1363	CPE	OMIM:619326
HP:0002926	Abnormality of thyroid physiology	23007	PLCH1	ORPHA:93925
HP:0002926	Abnormality of thyroid physiology	26040	SETBP1	ORPHA:798
HP:0002926	Abnormality of thyroid physiology	8022	LHX3	ORPHA:226307
HP:0002926	Abnormality of thyroid physiology	7201	TRHR	ORPHA:99832
HP:0002926	Abnormality of thyroid physiology	54914	FOCAD	OMIM:619991
HP:0002926	Abnormality of thyroid physiology	8567	MADD	OMIM:619004
HP:0002926	Abnormality of thyroid physiology	1733	DIO1	OMIM:619855
HP:0002926	Abnormality of thyroid physiology	1188	CLCNKB	ORPHA:358
HP:0002926	Abnormality of thyroid physiology	6559	SLC12A3	ORPHA:358
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	1737	DLAT	OMIM:245348
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	51218	GLRX5	ORPHA:401866
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	51218	GLRX5	OMIM:616859
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	8050	PDHX	OMIM:245349
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	8050	PDHX	ORPHA:255182
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	5162	PDHB	ORPHA:255138
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	11019	LIAS	OMIM:614462
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	1892	ECHS1	OMIM:616277
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	5160	PDHA1	OMIM:312170
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	388962	BOLA3	OMIM:614299
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	54148	MRPL39	OMIM:620646
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	64116	SLC39A8	ORPHA:468699
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	54704	PDP1	OMIM:608782
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	54704	PDP1	ORPHA:79246
HP:0002929	Leydig cell insensitivity to gonadotropin	3730	ANOS1	OMIM:308700
HP:0002930	Impaired sensitivity to thyroid hormone	7068	THRB	OMIM:145650
HP:0002930	Impaired sensitivity to thyroid hormone	7068	THRB	OMIM:274300
HP:0002930	Impaired sensitivity to thyroid hormone	7068	THRB	OMIM:188570
HP:0002930	Impaired sensitivity to thyroid hormone	7067	THRA	OMIM:614450
HP:0003108	Hyperglycinuria	2731	GLDC	OMIM:605899
HP:0003108	Hyperglycinuria	3712	IVD	OMIM:243500
HP:0003108	Hyperglycinuria	153201	SLC36A2	OMIM:242600
HP:0003108	Hyperglycinuria	153201	SLC36A2	ORPHA:42062
HP:0003108	Hyperglycinuria	153201	SLC36A2	OMIM:138500
HP:0003108	Hyperglycinuria	27247	NFU1	OMIM:605711
HP:0003108	Hyperglycinuria	348932	SLC6A18	ORPHA:42062
HP:0003108	Hyperglycinuria	54716	SLC6A20	ORPHA:42062
HP:0003108	Hyperglycinuria	340024	SLC6A19	ORPHA:42062
HP:0003108	Hyperglycinuria	34	ACADM	OMIM:201450
HP:0003108	Hyperglycinuria	5625	PRODH	OMIM:239500
HP:0003108	Hyperglycinuria	64087	MCCC2	OMIM:210210
HP:0003108	Hyperglycinuria	132158	GLYCTK	ORPHA:941
HP:0003108	Hyperglycinuria	8659	ALDH4A1	OMIM:239510
HP:0003108	Hyperglycinuria	5095	PCCA	OMIM:606054
HP:0003108	Hyperglycinuria	5096	PCCB	OMIM:606054
HP:0002932	Aldehyde oxidase deficiency	4337	MOCS1	OMIM:252150
HP:0002933	Ventral hernia	64359	NXN	OMIM:618529
HP:0002933	Ventral hernia	117581	TWIST2	OMIM:200110
HP:0002933	Ventral hernia	165	AEBP1	ORPHA:536532
HP:0002933	Ventral hernia	165	AEBP1	OMIM:618000
HP:0002933	Ventral hernia	2202	EFEMP1	OMIM:620780
HP:0002933	Ventral hernia	23126	POGZ	ORPHA:468678
HP:0002936	Distal sensory impairment	5274	SERPINI1	OMIM:604218
HP:0002936	Distal sensory impairment	4141	MARS1	OMIM:616280
HP:0002936	Distal sensory impairment	91574	MTRFR	ORPHA:254930
HP:0002936	Distal sensory impairment	91574	MTRFR	OMIM:615035
HP:0002936	Distal sensory impairment	91574	MTRFR	OMIM:613559
HP:0002936	Distal sensory impairment	91574	MTRFR	ORPHA:320375
HP:0002936	Distal sensory impairment	5376	PMP22	OMIM:118300
HP:0002936	Distal sensory impairment	5376	PMP22	OMIM:180800
HP:0002936	Distal sensory impairment	5376	PMP22	ORPHA:90658
HP:0002936	Distal sensory impairment	5376	PMP22	ORPHA:101081
HP:0002936	Distal sensory impairment	5376	PMP22	OMIM:118220
HP:0002936	Distal sensory impairment	5376	PMP22	OMIM:145900
HP:0002936	Distal sensory impairment	127833	SYT2	OMIM:616040
HP:0002936	Distal sensory impairment	112	ADCY6	OMIM:616287
HP:0002936	Distal sensory impairment	59341	TRPV4	OMIM:606071
HP:0002936	Distal sensory impairment	59341	TRPV4	OMIM:181405
HP:0002936	Distal sensory impairment	22880	MORC2	OMIM:616688
HP:0002936	Distal sensory impairment	80821	DDHD1	OMIM:609340
HP:0002936	Distal sensory impairment	4311	MME	OMIM:617018
HP:0002936	Distal sensory impairment	4311	MME	OMIM:617017
HP:0002936	Distal sensory impairment	4311	MME	ORPHA:497764
HP:0002936	Distal sensory impairment	9782	MATR3	OMIM:606070
HP:0002936	Distal sensory impairment	9782	MATR3	ORPHA:600
HP:0002936	Distal sensory impairment	9927	MFN2	OMIM:151800
HP:0002936	Distal sensory impairment	9927	MFN2	OMIM:601152
HP:0002936	Distal sensory impairment	9927	MFN2	OMIM:609260
HP:0002936	Distal sensory impairment	9927	MFN2	OMIM:617087
HP:0002936	Distal sensory impairment	9927	MFN2	ORPHA:99947
HP:0002936	Distal sensory impairment	4747	NEFL	OMIM:607684
HP:0002936	Distal sensory impairment	4747	NEFL	OMIM:607734
HP:0002936	Distal sensory impairment	4747	NEFL	OMIM:617882
HP:0002936	Distal sensory impairment	3315	HSPB1	OMIM:606595
HP:0002936	Distal sensory impairment	10516	FBLN5	OMIM:608895
HP:0002936	Distal sensory impairment	10516	FBLN5	OMIM:619764
HP:0002936	Distal sensory impairment	4359	MPZ	OMIM:180800
HP:0002936	Distal sensory impairment	4359	MPZ	OMIM:607677
HP:0002936	Distal sensory impairment	4359	MPZ	OMIM:607791
HP:0002936	Distal sensory impairment	4359	MPZ	OMIM:118200
HP:0002936	Distal sensory impairment	4359	MPZ	OMIM:607736
HP:0002936	Distal sensory impairment	4359	MPZ	OMIM:145900
HP:0002936	Distal sensory impairment	10743	RAI1	ORPHA:477817
HP:0002936	Distal sensory impairment	54332	GDAP1	OMIM:607831
HP:0002936	Distal sensory impairment	54332	GDAP1	ORPHA:101097
HP:0002936	Distal sensory impairment	54332	GDAP1	OMIM:214400
HP:0002936	Distal sensory impairment	54332	GDAP1	OMIM:608340
HP:0002936	Distal sensory impairment	54332	GDAP1	ORPHA:99948
HP:0002936	Distal sensory impairment	54332	GDAP1	ORPHA:99944
HP:0002936	Distal sensory impairment	56704	JPH1	OMIM:607831
HP:0002936	Distal sensory impairment	10397	NDRG1	OMIM:601455
HP:0002936	Distal sensory impairment	10397	NDRG1	ORPHA:99950
HP:0002936	Distal sensory impairment	7084	TK2	ORPHA:254886
HP:0002936	Distal sensory impairment	5428	POLG	ORPHA:254886
HP:0002936	Distal sensory impairment	5428	POLG	OMIM:603041
HP:0002936	Distal sensory impairment	538	ATP7A	OMIM:300489
HP:0002936	Distal sensory impairment	25814	ATXN10	OMIM:603516
HP:0002936	Distal sensory impairment	200205	IBA57	OMIM:616451
HP:0002936	Distal sensory impairment	90678	LRSAM1	OMIM:614436
HP:0002936	Distal sensory impairment	81846	SBF2	OMIM:604563
HP:0002936	Distal sensory impairment	81846	SBF2	ORPHA:99956
HP:0002936	Distal sensory impairment	547	KIF1A	ORPHA:101010
HP:0002936	Distal sensory impairment	65055	REEP1	ORPHA:101011
HP:0002936	Distal sensory impairment	65055	REEP1	OMIM:610250
HP:0002936	Distal sensory impairment	219285	SAMD9L	OMIM:159550
HP:0002936	Distal sensory impairment	8888	MCM3AP	OMIM:618124
HP:0002936	Distal sensory impairment	55154	MSTO1	OMIM:617675
HP:0002936	Distal sensory impairment	57449	PLEKHG5	OMIM:615376
HP:0002936	Distal sensory impairment	215	ABCD1	ORPHA:139399
HP:0002936	Distal sensory impairment	9131	AIFM1	OMIM:300614
HP:0002936	Distal sensory impairment	9131	AIFM1	OMIM:310490
HP:0002936	Distal sensory impairment	5631	PRPS1	OMIM:311070
HP:0002936	Distal sensory impairment	6335	SCN9A	ORPHA:90026
HP:0002936	Distal sensory impairment	11280	SCN11A	ORPHA:90026
HP:0002936	Distal sensory impairment	6336	SCN10A	ORPHA:90026
HP:0002936	Distal sensory impairment	4358	MPV17	OMIM:256810
HP:0002936	Distal sensory impairment	91137	SLC25A46	OMIM:616505
HP:0002936	Distal sensory impairment	54463	RETREG1	OMIM:613115
HP:0002936	Distal sensory impairment	3035	HARS1	OMIM:616625
HP:0002936	Distal sensory impairment	5921	RASA1	ORPHA:90307
HP:0002936	Distal sensory impairment	10157	AASS	ORPHA:3124
HP:0002936	Distal sensory impairment	23400	ATP13A2	OMIM:606693
HP:0002936	Distal sensory impairment	23400	ATP13A2	OMIM:617225
HP:0002936	Distal sensory impairment	823	CAPN1	OMIM:616907
HP:0002936	Distal sensory impairment	2632	GBE1	ORPHA:206583
HP:0002936	Distal sensory impairment	2632	GBE1	OMIM:263570
HP:0002936	Distal sensory impairment	857	CAV1	OMIM:606721
HP:0002936	Distal sensory impairment	463	ZFHX3	OMIM:600223
HP:0002936	Distal sensory impairment	2705	GJB1	OMIM:302800
HP:0002936	Distal sensory impairment	64423	INF2	OMIM:614455
HP:0002936	Distal sensory impairment	9517	SPTLC2	OMIM:613640
HP:0002936	Distal sensory impairment	9517	SPTLC2	ORPHA:36386
HP:0002936	Distal sensory impairment	26090	ABHD12	OMIM:612674
HP:0002936	Distal sensory impairment	55775	TDP1	OMIM:607250
HP:0002936	Distal sensory impairment	3735	KARS1	OMIM:613641
HP:0002936	Distal sensory impairment	54840	APTX	OMIM:208920
HP:0002936	Distal sensory impairment	9896	FIG4	OMIM:611228
HP:0002936	Distal sensory impairment	9531	BAG3	OMIM:612954
HP:0002936	Distal sensory impairment	121512	FGD4	OMIM:609311
HP:0002936	Distal sensory impairment	10558	SPTLC1	ORPHA:36386
HP:0002936	Distal sensory impairment	10558	SPTLC1	OMIM:162400
HP:0002936	Distal sensory impairment	25923	ATL3	ORPHA:36386
HP:0002936	Distal sensory impairment	51062	ATL1	ORPHA:36386
HP:0002936	Distal sensory impairment	51062	ATL1	OMIM:613708
HP:0002936	Distal sensory impairment	4000	LMNA	OMIM:605588
HP:0002936	Distal sensory impairment	4000	LMNA	ORPHA:98856
HP:0002936	Distal sensory impairment	11284	PNKP	OMIM:605589
HP:0002936	Distal sensory impairment	81857	MED25	OMIM:605589
HP:0002936	Distal sensory impairment	87178	PNPT1	ORPHA:101111
HP:0002936	Distal sensory impairment	65260	COA7	OMIM:618387
HP:0002936	Distal sensory impairment	7415	VCP	ORPHA:435387
HP:0002936	Distal sensory impairment	55699	IARS2	OMIM:616007
HP:0002936	Distal sensory impairment	57863	CADM3	OMIM:619519
HP:0002936	Distal sensory impairment	4744	NEFH	OMIM:616924
HP:0002936	Distal sensory impairment	1778	DYNC1H1	OMIM:614228
HP:0002936	Distal sensory impairment	3839	KPNA3	OMIM:620106
HP:0002936	Distal sensory impairment	1890	TYMP	OMIM:603041
HP:0002936	Distal sensory impairment	8659	ALDH4A1	ORPHA:79101
HP:0002936	Distal sensory impairment	7507	XPA	OMIM:278700
HP:0002936	Distal sensory impairment	8898	MTMR2	OMIM:601382
HP:0002936	Distal sensory impairment	6305	SBF1	OMIM:615284
HP:0002936	Distal sensory impairment	55958	KLHL9	ORPHA:399081
HP:0002936	Distal sensory impairment	5375	PMP2	OMIM:618279
HP:0002936	Distal sensory impairment	4669	NAGLU	OMIM:616491
HP:0002936	Distal sensory impairment	23095	KIF1B	OMIM:118210
HP:0002936	Distal sensory impairment	83636	C19orf12	OMIM:615043
HP:0002936	Distal sensory impairment	5192	PEX10	OMIM:614871
HP:0002936	Distal sensory impairment	5165	PDK3	ORPHA:352675
HP:0002936	Distal sensory impairment	400916	CHCHD10	OMIM:615048
HP:0002936	Distal sensory impairment	10342	TFG	ORPHA:90117
HP:0002936	Distal sensory impairment	10342	TFG	OMIM:604484
HP:0002936	Distal sensory impairment	859	CAV3	ORPHA:488650
HP:0002936	Distal sensory impairment	6663	SOX10	OMIM:609136
HP:0002936	Distal sensory impairment	3710	ITPR3	OMIM:620111
HP:0002936	Distal sensory impairment	8565	YARS1	OMIM:608323
HP:0002936	Distal sensory impairment	9516	LITAF	OMIM:601098
HP:0002936	Distal sensory impairment	26278	SACS	OMIM:270550
HP:0002936	Distal sensory impairment	3094	HINT1	OMIM:137200
HP:0002936	Distal sensory impairment	3300	DNAJB2	OMIM:614881
HP:0002936	Distal sensory impairment	60386	SLC25A19	OMIM:613710
HP:0002936	Distal sensory impairment	79784	MYH14	OMIM:614369
HP:0002936	Distal sensory impairment	23533	PIK3R5	OMIM:615217
HP:0002936	Distal sensory impairment	80208	SPG11	OMIM:616668
HP:0002936	Distal sensory impairment	8139	GAN	ORPHA:643
HP:0002936	Distal sensory impairment	8139	GAN	OMIM:256850
HP:0002936	Distal sensory impairment	26353	HSPB8	OMIM:608673
HP:0002936	Distal sensory impairment	4668	NAGA	OMIM:609242
HP:0002936	Distal sensory impairment	3098	HK1	ORPHA:99953
HP:0002936	Distal sensory impairment	3098	HK1	OMIM:605285
HP:0002936	Distal sensory impairment	79628	SH3TC2	OMIM:601596
HP:0002936	Distal sensory impairment	4914	NTRK1	ORPHA:642
HP:0002936	Distal sensory impairment	3798	KIF5A	ORPHA:100991
HP:0002936	Distal sensory impairment	3798	KIF5A	OMIM:604187
HP:0002936	Distal sensory impairment	59345	GNB4	OMIM:615185
HP:0002936	Distal sensory impairment	3508	IGHMBP2	OMIM:616155
HP:0002936	Distal sensory impairment	26580	BSCL2	ORPHA:100998
HP:0002936	Distal sensory impairment	22948	CCT5	OMIM:256840
HP:0002936	Distal sensory impairment	57716	PRX	OMIM:614895
HP:0002936	Distal sensory impairment	57716	PRX	OMIM:145900
HP:0002936	Distal sensory impairment	16	AARS1	OMIM:613287
HP:0002936	Distal sensory impairment	1337	COX6A1	OMIM:616039
HP:0002936	Distal sensory impairment	57165	GJC2	OMIM:613206
HP:0002936	Distal sensory impairment	57410	SCYL1	OMIM:616719
HP:0002936	Distal sensory impairment	1959	EGR2	OMIM:145900
HP:0002936	Distal sensory impairment	4001	LMNB1	ORPHA:99027
HP:0002936	Distal sensory impairment	1785	DNM2	OMIM:606482
HP:0002936	Distal sensory impairment	2617	GARS1	OMIM:601472
HP:0002936	Distal sensory impairment	8729	GBF1	OMIM:606483
HP:0002936	Distal sensory impairment	4547	MTTP	ORPHA:14
HP:0002936	Distal sensory impairment	9420	CYP7B1	OMIM:270800
HP:0002936	Distal sensory impairment	56652	TWNK	OMIM:607459
HP:0002936	Distal sensory impairment	56652	TWNK	ORPHA:70595
HP:0002936	Distal sensory impairment	55703	POLR3B	OMIM:619742
HP:0002936	Distal sensory impairment	7515	XRCC1	OMIM:617633
HP:0002936	Distal sensory impairment	55157	DARS2	ORPHA:137898
HP:0002936	Distal sensory impairment	5173	PDYN	OMIM:610245
HP:0002936	Distal sensory impairment	81790	RNF170	OMIM:608984
HP:0002936	Distal sensory impairment	11128	POLR3A	ORPHA:447896
HP:0002936	Distal sensory impairment	7879	RAB7A	OMIM:600882
HP:0002936	Distal sensory impairment	51816	ADA2	OMIM:182410
HP:0002936	Distal sensory impairment	50717	DCAF8	OMIM:610100
HP:0002936	Distal sensory impairment	50846	DHH	OMIM:607080
HP:0002936	Distal sensory impairment	23064	SETX	OMIM:606002
HP:0002936	Distal sensory impairment	6310	ATXN1	OMIM:164400
HP:0002937	Hemivertebrae	2737	GLI3	ORPHA:672
HP:0002937	Hemivertebrae	2737	GLI3	OMIM:146510
HP:0002937	Hemivertebrae	2737	GLI3	ORPHA:93322
HP:0002937	Hemivertebrae	9791	PTDSS1	OMIM:151050
HP:0002937	Hemivertebrae	5447	POR	OMIM:201750
HP:0002937	Hemivertebrae	6909	TBX2	OMIM:618223
HP:0002937	Hemivertebrae	8558	CDK10	OMIM:617694
HP:0002937	Hemivertebrae	145173	B3GLCT	OMIM:261540
HP:0002937	Hemivertebrae	1857	DVL3	ORPHA:3107
HP:0002937	Hemivertebrae	7474	WNT5A	ORPHA:3107
HP:0002937	Hemivertebrae	1855	DVL1	ORPHA:3107
HP:0002937	Hemivertebrae	2535	FZD2	ORPHA:3107
HP:0002937	Hemivertebrae	134701	RIPPLY2	OMIM:616566
HP:0002937	Hemivertebrae	5885	RAD21	OMIM:614701
HP:0002937	Hemivertebrae	6650	CAPN15	OMIM:619318
HP:0002937	Hemivertebrae	10992	SF3B2	OMIM:164210
HP:0002937	Hemivertebrae	54499	TMCO1	OMIM:213980
HP:0002937	Hemivertebrae	54499	TMCO1	ORPHA:1394
HP:0002937	Hemivertebrae	546	ATRX	OMIM:301040
HP:0002937	Hemivertebrae	526	ATP6V1B2	ORPHA:79500
HP:0002937	Hemivertebrae	57465	TBC1D24	ORPHA:79500
HP:0002937	Hemivertebrae	6651	SON	OMIM:617140
HP:0002937	Hemivertebrae	6651	SON	ORPHA:500150
HP:0002937	Hemivertebrae	4920	ROR2	OMIM:113000
HP:0002937	Hemivertebrae	4920	ROR2	OMIM:268310
HP:0002937	Hemivertebrae	8942	KYNU	OMIM:617661
HP:0002937	Hemivertebrae	8085	KMT2D	ORPHA:2322
HP:0002937	Hemivertebrae	7403	KDM6A	ORPHA:2322
HP:0002937	Hemivertebrae	182	JAG1	OMIM:118450
HP:0002937	Hemivertebrae	388015	RTL1	ORPHA:96334
HP:0002937	Hemivertebrae	8788	DLK1	ORPHA:96334
HP:0002937	Hemivertebrae	55384	MEG3	ORPHA:96334
HP:0002937	Hemivertebrae	145873	MESP2	OMIM:277300
HP:0002937	Hemivertebrae	145873	MESP2	OMIM:608681
HP:0002937	Hemivertebrae	10683	DLL3	OMIM:277300
HP:0002937	Hemivertebrae	55636	CHD7	ORPHA:138
HP:0002937	Hemivertebrae	55636	CHD7	OMIM:214800
HP:0002937	Hemivertebrae	9723	SEMA3E	ORPHA:138
HP:0002937	Hemivertebrae	2187	FANCB	ORPHA:3412
HP:0002937	Hemivertebrae	5727	PTCH1	ORPHA:377
HP:0002937	Hemivertebrae	5727	PTCH1	OMIM:109400
HP:0002937	Hemivertebrae	8643	PTCH2	ORPHA:377
HP:0002937	Hemivertebrae	51684	SUFU	ORPHA:377
HP:0002937	Hemivertebrae	6657	SOX2	ORPHA:77298
HP:0002937	Hemivertebrae	6657	SOX2	OMIM:206900
HP:0002937	Hemivertebrae	9897	WASHC5	OMIM:220210
HP:0002937	Hemivertebrae	9897	WASHC5	ORPHA:7
HP:0002937	Hemivertebrae	55777	MBD5	OMIM:156200
HP:0002937	Hemivertebrae	4621	MYH3	OMIM:178110
HP:0002937	Hemivertebrae	60	ACTB	OMIM:604919
HP:0002937	Hemivertebrae	4998	ORC1	OMIM:224690
HP:0002937	Hemivertebrae	51360	MBTPS2	ORPHA:85284
HP:0002937	Hemivertebrae	7476	WNT7A	OMIM:276820
HP:0002937	Hemivertebrae	28952	CCDC22	ORPHA:7
HP:0002937	Hemivertebrae	57020	VPS35L	ORPHA:7
HP:0002937	Hemivertebrae	56896	DPYSL5	ORPHA:7
HP:0002937	Hemivertebrae	10682	EBP	OMIM:302960
HP:0002937	Hemivertebrae	26175	LYSET	OMIM:619345
HP:0002937	Hemivertebrae	22827	PUF60	OMIM:615583
HP:0002937	Hemivertebrae	84667	HES7	OMIM:613686
HP:0002937	Hemivertebrae	8517	IKBKG	OMIM:308300
HP:0002937	Hemivertebrae	4990	SIX6	OMIM:206900
HP:0002937	Hemivertebrae	91039	DPP9	OMIM:620331
HP:0002937	Hemivertebrae	6911	TBX6	OMIM:122600
HP:0002937	Hemivertebrae	4038	LRP4	OMIM:212780
HP:0002937	Hemivertebrae	10606	PAICS	OMIM:619859
HP:0002937	Hemivertebrae	2260	FGFR1	OMIM:190440
HP:0002937	Hemivertebrae	79158	GNPTAB	OMIM:252600
HP:0002937	Hemivertebrae	1984	EIF5A	OMIM:619376
HP:0002937	Hemivertebrae	10735	STAG2	OMIM:301043
HP:0002937	Hemivertebrae	3021	H3-3B	OMIM:619721
HP:0002937	Hemivertebrae	8567	MADD	OMIM:619004
HP:0002938	Lumbar hyperlordosis	2137	EXTL3	ORPHA:508533
HP:0002938	Lumbar hyperlordosis	2137	EXTL3	OMIM:617425
HP:0002938	Lumbar hyperlordosis	6399	TRAPPC2	ORPHA:93284
HP:0002938	Lumbar hyperlordosis	6399	TRAPPC2	OMIM:313400
HP:0002938	Lumbar hyperlordosis	65992	DDRGK1	OMIM:602557
HP:0002938	Lumbar hyperlordosis	2335	FN1	ORPHA:93315
HP:0002938	Lumbar hyperlordosis	1280	COL2A1	ORPHA:93315
HP:0002938	Lumbar hyperlordosis	1280	COL2A1	ORPHA:94068
HP:0002938	Lumbar hyperlordosis	1280	COL2A1	OMIM:183900
HP:0002938	Lumbar hyperlordosis	4010	LMX1B	ORPHA:2614
HP:0002938	Lumbar hyperlordosis	4010	LMX1B	OMIM:161200
HP:0002938	Lumbar hyperlordosis	23314	SATB2	ORPHA:251028
HP:0002938	Lumbar hyperlordosis	7415	VCP	OMIM:167320
HP:0002938	Lumbar hyperlordosis	7415	VCP	ORPHA:435387
HP:0002938	Lumbar hyperlordosis	253738	EBF3	ORPHA:96148
HP:0002938	Lumbar hyperlordosis	23363	OBSL1	OMIM:612921
HP:0002938	Lumbar hyperlordosis	50814	NSDHL	ORPHA:251383
HP:0002938	Lumbar hyperlordosis	10060	ABCC9	OMIM:619719
HP:0002938	Lumbar hyperlordosis	59341	TRPV4	ORPHA:93314
HP:0002938	Lumbar hyperlordosis	411	ARSB	OMIM:253200
HP:0002938	Lumbar hyperlordosis	1302	COL11A2	OMIM:215150
HP:0002938	Lumbar hyperlordosis	1302	COL11A2	ORPHA:1427
HP:0002938	Lumbar hyperlordosis	2617	GARS1	OMIM:619042
HP:0002938	Lumbar hyperlordosis	473	RERE	OMIM:616975
HP:0002938	Lumbar hyperlordosis	10216	PRG4	ORPHA:2848
HP:0002938	Lumbar hyperlordosis	57156	TMEM63C	OMIM:619966
HP:0002938	Lumbar hyperlordosis	25782	RAB3GAP2	OMIM:212720
HP:0002938	Lumbar hyperlordosis	176	ACAN	OMIM:612813
HP:0002938	Lumbar hyperlordosis	176	ACAN	OMIM:165800
HP:0002938	Lumbar hyperlordosis	176	ACAN	ORPHA:171866
HP:0002938	Lumbar hyperlordosis	4625	MYH7	OMIM:160500
HP:0002938	Lumbar hyperlordosis	29925	GMPPB	ORPHA:353327
HP:0002938	Lumbar hyperlordosis	29925	GMPPB	ORPHA:370959
HP:0002938	Lumbar hyperlordosis	2673	GFPT1	ORPHA:353327
HP:0002938	Lumbar hyperlordosis	1798	DPAGT1	ORPHA:353327
HP:0002938	Lumbar hyperlordosis	85365	ALG2	ORPHA:353327
HP:0002938	Lumbar hyperlordosis	199857	ALG14	ORPHA:353327
HP:0002938	Lumbar hyperlordosis	54808	DYM	OMIM:223800
HP:0002938	Lumbar hyperlordosis	6660	SOX5	ORPHA:313892
HP:0002938	Lumbar hyperlordosis	4148	MATN3	ORPHA:156728
HP:0002938	Lumbar hyperlordosis	4148	MATN3	OMIM:608728
HP:0002938	Lumbar hyperlordosis	1300	COL10A1	ORPHA:174
HP:0002938	Lumbar hyperlordosis	1300	COL10A1	OMIM:156500
HP:0002938	Lumbar hyperlordosis	65082	VPS33A	ORPHA:505248
HP:0002938	Lumbar hyperlordosis	54	ACP5	OMIM:607944
HP:0002938	Lumbar hyperlordosis	8925	HERC1	ORPHA:457359
HP:0002938	Lumbar hyperlordosis	55870	ASH1L	OMIM:617796
HP:0002938	Lumbar hyperlordosis	4052	LTBP1	OMIM:619451
HP:0002938	Lumbar hyperlordosis	84665	MYPN	ORPHA:171881
HP:0002938	Lumbar hyperlordosis	7169	TPM2	ORPHA:171881
HP:0002938	Lumbar hyperlordosis	7170	TPM3	ORPHA:171881
HP:0002938	Lumbar hyperlordosis	7170	TPM3	OMIM:255310
HP:0002938	Lumbar hyperlordosis	9469	CHST3	OMIM:143095
HP:0002938	Lumbar hyperlordosis	2261	FGFR3	OMIM:146000
HP:0002938	Lumbar hyperlordosis	2261	FGFR3	ORPHA:15
HP:0002938	Lumbar hyperlordosis	2261	FGFR3	OMIM:616482
HP:0002938	Lumbar hyperlordosis	2261	FGFR3	OMIM:100800
HP:0002938	Lumbar hyperlordosis	4604	MYBPC1	OMIM:618524
HP:0002938	Lumbar hyperlordosis	64131	XYLT1	OMIM:615777
HP:0002938	Lumbar hyperlordosis	1292	COL6A2	OMIM:255600
HP:0002938	Lumbar hyperlordosis	1292	COL6A2	ORPHA:610
HP:0002938	Lumbar hyperlordosis	157680	VPS13B	OMIM:216550
HP:0002938	Lumbar hyperlordosis	23116	TOGARAM1	OMIM:619185
HP:0002938	Lumbar hyperlordosis	7703	PCGF2	OMIM:618371
HP:0002938	Lumbar hyperlordosis	1605	DAG1	ORPHA:280333
HP:0002938	Lumbar hyperlordosis	1605	DAG1	OMIM:613818
HP:0002938	Lumbar hyperlordosis	3549	IHH	OMIM:607778
HP:0002938	Lumbar hyperlordosis	633	BGN	OMIM:300106
HP:0002938	Lumbar hyperlordosis	164	AP1G1	OMIM:619467
HP:0002938	Lumbar hyperlordosis	26040	SETBP1	OMIM:616078
HP:0002938	Lumbar hyperlordosis	6023	RMRP	OMIM:607095
HP:0002938	Lumbar hyperlordosis	6023	RMRP	OMIM:250250
HP:0002938	Lumbar hyperlordosis	57531	HACE1	OMIM:616756
HP:0002938	Lumbar hyperlordosis	9927	MFN2	OMIM:601152
HP:0002938	Lumbar hyperlordosis	6874	TAF4	OMIM:620450
HP:0002938	Lumbar hyperlordosis	81794	ADAMTS10	OMIM:277600
HP:0002938	Lumbar hyperlordosis	1311	COMP	ORPHA:750
HP:0002938	Lumbar hyperlordosis	1311	COMP	OMIM:177170
HP:0002938	Lumbar hyperlordosis	6445	SGCG	ORPHA:353
HP:0002938	Lumbar hyperlordosis	10585	POMT1	OMIM:609308
HP:0002938	Lumbar hyperlordosis	10585	POMT1	ORPHA:370959
HP:0002938	Lumbar hyperlordosis	10585	POMT1	ORPHA:86812
HP:0002938	Lumbar hyperlordosis	4882	NPR2	OMIM:602875
HP:0002938	Lumbar hyperlordosis	84265	POLR3GL	OMIM:619234
HP:0002938	Lumbar hyperlordosis	55697	VAC14	OMIM:617054
HP:0002938	Lumbar hyperlordosis	54880	BCOR	OMIM:309800
HP:0002938	Lumbar hyperlordosis	8260	NAA10	OMIM:309800
HP:0002938	Lumbar hyperlordosis	85301	COL27A1	OMIM:615155
HP:0002938	Lumbar hyperlordosis	63895	PIEZO2	OMIM:114300
HP:0002938	Lumbar hyperlordosis	2517	FUCA1	OMIM:230000
HP:0002938	Lumbar hyperlordosis	5593	PRKG2	OMIM:619636
HP:0002938	Lumbar hyperlordosis	1836	SLC26A2	ORPHA:628
HP:0002938	Lumbar hyperlordosis	1836	SLC26A2	OMIM:222600
HP:0002938	Lumbar hyperlordosis	1836	SLC26A2	OMIM:256050
HP:0002938	Lumbar hyperlordosis	4796	TONSL	ORPHA:93357
HP:0002938	Lumbar hyperlordosis	4796	TONSL	OMIM:271510
HP:0002938	Lumbar hyperlordosis	145258	GSC	OMIM:602471
HP:0002938	Lumbar hyperlordosis	79147	FKRP	ORPHA:370959
HP:0002938	Lumbar hyperlordosis	29954	POMT2	ORPHA:370959
HP:0002938	Lumbar hyperlordosis	84197	POMK	ORPHA:370959
HP:0002938	Lumbar hyperlordosis	55624	POMGNT1	ORPHA:370959
HP:0002938	Lumbar hyperlordosis	2200	FBN1	OMIM:608328
HP:0002938	Lumbar hyperlordosis	64419	MTMR14	OMIM:160150
HP:0002938	Lumbar hyperlordosis	1785	DNM2	OMIM:160150
HP:0002938	Lumbar hyperlordosis	4089	SMAD4	OMIM:139210
HP:0002938	Lumbar hyperlordosis	6857	SYT1	ORPHA:522077
HP:0002938	Lumbar hyperlordosis	6473	SHOX	OMIM:249700
HP:0002938	Lumbar hyperlordosis	83737	ITCH	OMIM:613385
HP:0002938	Lumbar hyperlordosis	50485	SMARCAL1	ORPHA:1830
HP:0002938	Lumbar hyperlordosis	50485	SMARCAL1	OMIM:242900
HP:0002938	Lumbar hyperlordosis	23529	CLCF1	OMIM:610313
HP:0002938	Lumbar hyperlordosis	9968	MED12	OMIM:305450
HP:0002938	Lumbar hyperlordosis	1303	COL12A1	ORPHA:610
HP:0002938	Lumbar hyperlordosis	1291	COL6A1	ORPHA:610
HP:0002938	Lumbar hyperlordosis	1293	COL6A3	ORPHA:610
HP:0002938	Lumbar hyperlordosis	50515	CHST11	OMIM:618167
HP:0002938	Lumbar hyperlordosis	339855	KY	OMIM:617114
HP:0002938	Lumbar hyperlordosis	6651	SON	ORPHA:500150
HP:0002938	Lumbar hyperlordosis	1073	CFL2	OMIM:610687
HP:0002938	Lumbar hyperlordosis	3339	HSPG2	OMIM:255800
HP:0002938	Lumbar hyperlordosis	257	ALX3	ORPHA:391474
HP:0002938	Lumbar hyperlordosis	6261	RYR1	OMIM:619542
HP:0002938	Lumbar hyperlordosis	3991	LIPE	OMIM:615980
HP:0002938	Lumbar hyperlordosis	5339	PLEC	OMIM:613723
HP:0002938	Lumbar hyperlordosis	1756	DMD	ORPHA:206546
HP:0003307	Hyperlordosis	2137	EXTL3	ORPHA:508533
HP:0003307	Hyperlordosis	2137	EXTL3	OMIM:617425
HP:0003307	Hyperlordosis	6399	TRAPPC2	ORPHA:93284
HP:0003307	Hyperlordosis	6399	TRAPPC2	OMIM:313400
HP:0003307	Hyperlordosis	2335	FN1	ORPHA:93315
HP:0003307	Hyperlordosis	4010	LMX1B	ORPHA:2614
HP:0003307	Hyperlordosis	4010	LMX1B	OMIM:161200
HP:0003307	Hyperlordosis	23314	SATB2	ORPHA:251028
HP:0003307	Hyperlordosis	253738	EBF3	ORPHA:96148
HP:0003307	Hyperlordosis	10060	ABCC9	OMIM:619719
HP:0003307	Hyperlordosis	411	ARSB	OMIM:253200
HP:0003307	Hyperlordosis	1302	COL11A2	OMIM:215150
HP:0003307	Hyperlordosis	1302	COL11A2	ORPHA:1427
HP:0003307	Hyperlordosis	2617	GARS1	OMIM:619042
HP:0003307	Hyperlordosis	473	RERE	OMIM:616975
HP:0003307	Hyperlordosis	10216	PRG4	ORPHA:2848
HP:0003307	Hyperlordosis	57156	TMEM63C	OMIM:619966
HP:0003307	Hyperlordosis	176	ACAN	OMIM:612813
HP:0003307	Hyperlordosis	176	ACAN	OMIM:165800
HP:0003307	Hyperlordosis	176	ACAN	ORPHA:171866
HP:0003307	Hyperlordosis	4625	MYH7	OMIM:160500
HP:0003307	Hyperlordosis	29925	GMPPB	ORPHA:353327
HP:0003307	Hyperlordosis	29925	GMPPB	ORPHA:370959
HP:0003307	Hyperlordosis	2673	GFPT1	ORPHA:353327
HP:0003307	Hyperlordosis	1798	DPAGT1	ORPHA:353327
HP:0003307	Hyperlordosis	199857	ALG14	ORPHA:353327
HP:0003307	Hyperlordosis	54808	DYM	OMIM:223800
HP:0003307	Hyperlordosis	6660	SOX5	ORPHA:313892
HP:0003307	Hyperlordosis	4148	MATN3	ORPHA:156728
HP:0003307	Hyperlordosis	4148	MATN3	OMIM:608728
HP:0003307	Hyperlordosis	1300	COL10A1	ORPHA:174
HP:0003307	Hyperlordosis	1300	COL10A1	OMIM:156500
HP:0003307	Hyperlordosis	65082	VPS33A	ORPHA:505248
HP:0003307	Hyperlordosis	54	ACP5	OMIM:607944
HP:0003307	Hyperlordosis	55870	ASH1L	OMIM:617796
HP:0003307	Hyperlordosis	4052	LTBP1	OMIM:619451
HP:0003307	Hyperlordosis	84665	MYPN	ORPHA:171881
HP:0003307	Hyperlordosis	9469	CHST3	OMIM:143095
HP:0003307	Hyperlordosis	4604	MYBPC1	OMIM:618524
HP:0003307	Hyperlordosis	64131	XYLT1	OMIM:615777
HP:0003307	Hyperlordosis	1292	COL6A2	OMIM:255600
HP:0003307	Hyperlordosis	1292	COL6A2	ORPHA:610
HP:0003307	Hyperlordosis	157680	VPS13B	OMIM:216550
HP:0003307	Hyperlordosis	23116	TOGARAM1	OMIM:619185
HP:0003307	Hyperlordosis	7703	PCGF2	OMIM:618371
HP:0003307	Hyperlordosis	1605	DAG1	ORPHA:280333
HP:0003307	Hyperlordosis	1605	DAG1	OMIM:613818
HP:0003307	Hyperlordosis	633	BGN	OMIM:300106
HP:0003307	Hyperlordosis	164	AP1G1	OMIM:619467
HP:0003307	Hyperlordosis	57531	HACE1	OMIM:616756
HP:0003307	Hyperlordosis	9927	MFN2	OMIM:601152
HP:0003307	Hyperlordosis	81794	ADAMTS10	OMIM:277600
HP:0003307	Hyperlordosis	1311	COMP	ORPHA:750
HP:0003307	Hyperlordosis	1311	COMP	OMIM:177170
HP:0003307	Hyperlordosis	10585	POMT1	OMIM:609308
HP:0003307	Hyperlordosis	10585	POMT1	ORPHA:370959
HP:0003307	Hyperlordosis	10585	POMT1	ORPHA:86812
HP:0003307	Hyperlordosis	84265	POLR3GL	OMIM:619234
HP:0003307	Hyperlordosis	55697	VAC14	OMIM:617054
HP:0003307	Hyperlordosis	85301	COL27A1	OMIM:615155
HP:0003307	Hyperlordosis	63895	PIEZO2	OMIM:114300
HP:0003307	Hyperlordosis	2517	FUCA1	OMIM:230000
HP:0003307	Hyperlordosis	5593	PRKG2	OMIM:619636
HP:0003307	Hyperlordosis	1836	SLC26A2	ORPHA:628
HP:0003307	Hyperlordosis	1836	SLC26A2	OMIM:222600
HP:0003307	Hyperlordosis	1836	SLC26A2	OMIM:256050
HP:0003307	Hyperlordosis	4796	TONSL	ORPHA:93357
HP:0003307	Hyperlordosis	4796	TONSL	OMIM:271510
HP:0003307	Hyperlordosis	145258	GSC	OMIM:602471
HP:0003307	Hyperlordosis	84197	POMK	ORPHA:370959
HP:0003307	Hyperlordosis	2200	FBN1	OMIM:608328
HP:0003307	Hyperlordosis	4089	SMAD4	OMIM:139210
HP:0003307	Hyperlordosis	6857	SYT1	ORPHA:522077
HP:0003307	Hyperlordosis	6473	SHOX	OMIM:249700
HP:0003307	Hyperlordosis	83737	ITCH	OMIM:613385
HP:0003307	Hyperlordosis	50485	SMARCAL1	ORPHA:1830
HP:0003307	Hyperlordosis	50485	SMARCAL1	OMIM:242900
HP:0003307	Hyperlordosis	23529	CLCF1	OMIM:610313
HP:0003307	Hyperlordosis	9968	MED12	OMIM:305450
HP:0003307	Hyperlordosis	1291	COL6A1	ORPHA:610
HP:0003307	Hyperlordosis	1293	COL6A3	ORPHA:610
HP:0003307	Hyperlordosis	50515	CHST11	OMIM:618167
HP:0003307	Hyperlordosis	339855	KY	OMIM:617114
HP:0003307	Hyperlordosis	6651	SON	ORPHA:500150
HP:0003307	Hyperlordosis	257	ALX3	ORPHA:391474
HP:0003307	Hyperlordosis	3991	LIPE	OMIM:615980
HP:0003307	Hyperlordosis	5339	PLEC	OMIM:613723
HP:0003307	Hyperlordosis	7291	TWIST1	ORPHA:794
HP:0003307	Hyperlordosis	2263	FGFR2	ORPHA:794
HP:0003307	Hyperlordosis	2261	FGFR3	ORPHA:794
HP:0003307	Hyperlordosis	2261	FGFR3	ORPHA:429
HP:0003307	Hyperlordosis	274	BIN1	ORPHA:169186
HP:0003307	Hyperlordosis	274	BIN1	OMIM:255200
HP:0003307	Hyperlordosis	10290	SPEG	ORPHA:169186
HP:0003307	Hyperlordosis	6261	RYR1	ORPHA:169186
HP:0003307	Hyperlordosis	7273	TTN	ORPHA:169186
HP:0003307	Hyperlordosis	5979	RET	OMIM:162300
HP:0003307	Hyperlordosis	57190	SELENON	ORPHA:97244
HP:0003307	Hyperlordosis	57190	SELENON	ORPHA:2020
HP:0003307	Hyperlordosis	58	ACTA1	ORPHA:97244
HP:0003307	Hyperlordosis	58	ACTA1	ORPHA:171436
HP:0003307	Hyperlordosis	58	ACTA1	OMIM:616852
HP:0003307	Hyperlordosis	58	ACTA1	ORPHA:2020
HP:0003307	Hyperlordosis	58	ACTA1	OMIM:161800
HP:0003307	Hyperlordosis	8925	HERC1	OMIM:617011
HP:0003307	Hyperlordosis	8367	H4C5	OMIM:619950
HP:0003307	Hyperlordosis	4593	MUSK	OMIM:616325
HP:0003307	Hyperlordosis	60684	TRAPPC11	OMIM:615356
HP:0003307	Hyperlordosis	60684	TRAPPC11	ORPHA:369840
HP:0003307	Hyperlordosis	23394	ADNP	OMIM:615873
HP:0003307	Hyperlordosis	9820	CUL7	ORPHA:2616
HP:0003307	Hyperlordosis	9820	CUL7	OMIM:273750
HP:0003307	Hyperlordosis	23363	OBSL1	ORPHA:2616
HP:0003307	Hyperlordosis	23363	OBSL1	OMIM:612921
HP:0003307	Hyperlordosis	83987	CCDC8	ORPHA:2616
HP:0003307	Hyperlordosis	83987	CCDC8	OMIM:614205
HP:0003307	Hyperlordosis	10973	ASCC3	OMIM:620700
HP:0003307	Hyperlordosis	1756	DMD	OMIM:310200
HP:0003307	Hyperlordosis	7138	TNNT1	OMIM:620389
HP:0003307	Hyperlordosis	4703	NEB	OMIM:256030
HP:0003307	Hyperlordosis	4703	NEB	ORPHA:171436
HP:0003307	Hyperlordosis	22947	DUX4L1	ORPHA:269
HP:0003307	Hyperlordosis	1789	DNMT3B	ORPHA:269
HP:0003307	Hyperlordosis	2483	FRG1	ORPHA:269
HP:0003307	Hyperlordosis	23347	SMCHD1	ORPHA:269
HP:0003307	Hyperlordosis	100288687	DUX4	ORPHA:269
HP:0003307	Hyperlordosis	4000	LMNA	OMIM:181350
HP:0003307	Hyperlordosis	4000	LMNA	ORPHA:157973
HP:0003307	Hyperlordosis	4000	LMNA	ORPHA:98855
HP:0003307	Hyperlordosis	4000	LMNA	ORPHA:98853
HP:0003307	Hyperlordosis	8291	DYSF	ORPHA:268
HP:0003307	Hyperlordosis	825	CAPN3	ORPHA:267
HP:0003307	Hyperlordosis	825	CAPN3	OMIM:618129
HP:0003307	Hyperlordosis	7169	TPM2	ORPHA:171436
HP:0003307	Hyperlordosis	7169	TPM2	ORPHA:2020
HP:0003307	Hyperlordosis	10324	KLHL41	ORPHA:171436
HP:0003307	Hyperlordosis	56203	LMOD3	ORPHA:171436
HP:0003307	Hyperlordosis	1073	CFL2	ORPHA:171436
HP:0003307	Hyperlordosis	613	BCR	ORPHA:261330
HP:0003307	Hyperlordosis	1399	CRKL	ORPHA:261330
HP:0003307	Hyperlordosis	5594	MAPK1	ORPHA:261330
HP:0003307	Hyperlordosis	55209	SETD5	OMIM:615761
HP:0003307	Hyperlordosis	55790	CSGALNACT1	OMIM:618870
HP:0003307	Hyperlordosis	1278	COL1A2	OMIM:617821
HP:0003307	Hyperlordosis	1763	DNA2	ORPHA:352470
HP:0003307	Hyperlordosis	1763	DNA2	OMIM:615156
HP:0003307	Hyperlordosis	5818	NECTIN1	ORPHA:3253
HP:0003307	Hyperlordosis	3897	L1CAM	OMIM:303350
HP:0003307	Hyperlordosis	10073	SNUPN	OMIM:620793
HP:0003307	Hyperlordosis	3908	LAMA2	ORPHA:258
HP:0003307	Hyperlordosis	79147	FKRP	OMIM:607155
HP:0003307	Hyperlordosis	79147	FKRP	OMIM:606612
HP:0003307	Hyperlordosis	6335	SCN9A	ORPHA:970
HP:0003307	Hyperlordosis	65125	WNK1	ORPHA:970
HP:0003307	Hyperlordosis	54463	RETREG1	ORPHA:970
HP:0003307	Hyperlordosis	547	KIF1A	ORPHA:970
HP:0003307	Hyperlordosis	84572	GNPTG	OMIM:252605
HP:0003307	Hyperlordosis	6023	RMRP	ORPHA:175
HP:0003307	Hyperlordosis	10940	POP1	OMIM:617396
HP:0003307	Hyperlordosis	153642	ARSK	OMIM:619698
HP:0003307	Hyperlordosis	3549	IHH	ORPHA:63446
HP:0003307	Hyperlordosis	284058	KANSL1	ORPHA:363958
HP:0003307	Hyperlordosis	284058	KANSL1	ORPHA:363965
HP:0003307	Hyperlordosis	55906	ZC4H2	OMIM:314580
HP:0003307	Hyperlordosis	84068	SLC10A7	OMIM:618363
HP:0003307	Hyperlordosis	85365	ALG2	OMIM:616228
HP:0003307	Hyperlordosis	6445	SGCG	OMIM:253700
HP:0003307	Hyperlordosis	11145	PLAAT3	OMIM:620683
HP:0003307	Hyperlordosis	10558	SPTLC1	OMIM:620285
HP:0003307	Hyperlordosis	8260	NAA10	ORPHA:568
HP:0003307	Hyperlordosis	54880	BCOR	ORPHA:568
HP:0003307	Hyperlordosis	7020	TFAP2A	OMIM:113620
HP:0003307	Hyperlordosis	80324	PUS1	OMIM:600462
HP:0003307	Hyperlordosis	4633	MYL2	ORPHA:2020
HP:0003307	Hyperlordosis	3679	ITGA7	ORPHA:2020
HP:0003307	Hyperlordosis	9200	HACD1	ORPHA:2020
HP:0003307	Hyperlordosis	7170	TPM3	ORPHA:2020
HP:0003307	Hyperlordosis	51776	MAP3K20	ORPHA:2020
HP:0003307	Hyperlordosis	51776	MAP3K20	OMIM:617760
HP:0003307	Hyperlordosis	4763	NF1	ORPHA:363700
HP:0003307	Hyperlordosis	9451	EIF2AK3	OMIM:226980
HP:0003307	Hyperlordosis	26040	SETBP1	OMIM:616078
HP:0003307	Hyperlordosis	3188	HNRNPH2	OMIM:300986
HP:0003307	Hyperlordosis	2720	GLB1	OMIM:253010
HP:0003307	Hyperlordosis	4854	NOTCH3	ORPHA:2789
HP:0003307	Hyperlordosis	57449	PLEKHG5	OMIM:611067
HP:0003307	Hyperlordosis	2783	GNB2	OMIM:619503
HP:0003307	Hyperlordosis	3930	LBR	OMIM:618019
HP:0003307	Hyperlordosis	2218	FKTN	OMIM:611588
HP:0003307	Hyperlordosis	139285	AMER1	ORPHA:2780
HP:0003307	Hyperlordosis	79158	GNPTAB	OMIM:252600
HP:0003307	Hyperlordosis	6874	TAF4	OMIM:620450
HP:0003307	Hyperlordosis	59341	TRPV4	OMIM:600175
HP:0003307	Hyperlordosis	59341	TRPV4	OMIM:181405
HP:0003307	Hyperlordosis	23299	BICD2	ORPHA:363454
HP:0003307	Hyperlordosis	23299	BICD2	OMIM:615290
HP:0003307	Hyperlordosis	50814	NSDHL	OMIM:300831
HP:0003307	Hyperlordosis	8493	PPM1D	OMIM:617450
HP:0003307	Hyperlordosis	1280	COL2A1	OMIM:184250
HP:0003307	Hyperlordosis	55699	IARS2	OMIM:616007
HP:0003307	Hyperlordosis	2588	GALNS	OMIM:253000
HP:0003307	Hyperlordosis	6804	STX1A	ORPHA:904
HP:0003307	Hyperlordosis	7461	CLIP2	ORPHA:904
HP:0003307	Hyperlordosis	84277	DNAJC30	ORPHA:904
HP:0003307	Hyperlordosis	8468	FKBP6	ORPHA:904
HP:0003307	Hyperlordosis	5982	RFC2	ORPHA:904
HP:0003307	Hyperlordosis	2969	GTF2I	ORPHA:904
HP:0003307	Hyperlordosis	3984	LIMK1	ORPHA:904
HP:0003307	Hyperlordosis	9569	GTF2IRD1	ORPHA:904
HP:0003307	Hyperlordosis	155382	VPS37D	ORPHA:904
HP:0003307	Hyperlordosis	155368	METTL27	ORPHA:904
HP:0003307	Hyperlordosis	114049	BUD23	ORPHA:904
HP:0003307	Hyperlordosis	7458	EIF4H	ORPHA:904
HP:0003307	Hyperlordosis	84163	GTF2IRD2	ORPHA:904
HP:0003307	Hyperlordosis	26608	TBL2	ORPHA:904
HP:0003307	Hyperlordosis	653361	NCF1	ORPHA:904
HP:0003307	Hyperlordosis	135886	TMEM270	ORPHA:904
HP:0003307	Hyperlordosis	9031	BAZ1B	ORPHA:904
HP:0003307	Hyperlordosis	2006	ELN	ORPHA:904
HP:0003307	Hyperlordosis	6329	SCN4A	ORPHA:99735
HP:0003307	Hyperlordosis	6329	SCN4A	OMIM:614198
HP:0003307	Hyperlordosis	6442	SGCA	ORPHA:62
HP:0003307	Hyperlordosis	65992	DDRGK1	ORPHA:93352
HP:0003307	Hyperlordosis	7040	TGFB1	ORPHA:1328
HP:0003307	Hyperlordosis	5293	PIK3CD	ORPHA:221139
HP:0003307	Hyperlordosis	90417	KNSTRN	ORPHA:221139
HP:0003307	Hyperlordosis	1303	COL12A1	ORPHA:536516
HP:0003307	Hyperlordosis	64419	MTMR14	OMIM:160150
HP:0003307	Hyperlordosis	1785	DNM2	OMIM:160150
HP:0003307	Hyperlordosis	6911	TBX6	ORPHA:1797
HP:0003307	Hyperlordosis	8838	CCN6	ORPHA:1159
HP:0003307	Hyperlordosis	2273	FHL1	OMIM:300718
HP:0003307	Hyperlordosis	2273	FHL1	ORPHA:98863
HP:0003307	Hyperlordosis	84919	PPP1R15B	OMIM:616817
HP:0003307	Hyperlordosis	8292	COLQ	OMIM:603034
HP:0003307	Hyperlordosis	124583	CANT1	OMIM:251450
HP:0003307	Hyperlordosis	3178	HNRNPA1	ORPHA:52430
HP:0003307	Hyperlordosis	7415	VCP	ORPHA:52430
HP:0003307	Hyperlordosis	3181	HNRNPA2B1	ORPHA:52430
HP:0003307	Hyperlordosis	7030	TFE3	OMIM:301066
HP:0003307	Hyperlordosis	23162	MAPK8IP3	OMIM:618443
HP:0003307	Hyperlordosis	89970	RSPRY1	ORPHA:457395
HP:0003307	Hyperlordosis	29954	POMT2	OMIM:613156
HP:0003307	Hyperlordosis	22930	RAB3GAP1	ORPHA:1387
HP:0003307	Hyperlordosis	25782	RAB3GAP2	ORPHA:1387
HP:0003307	Hyperlordosis	55624	POMGNT1	OMIM:613157
HP:0003307	Hyperlordosis	84466	MEGF10	OMIM:620249
HP:0003307	Hyperlordosis	10584	COLEC10	ORPHA:293843
HP:0003307	Hyperlordosis	5648	MASP1	ORPHA:293843
HP:0003307	Hyperlordosis	78989	COLEC11	ORPHA:293843
HP:0003307	Hyperlordosis	2317	FLNB	OMIM:272460
HP:0003307	Hyperlordosis	4882	NPR2	ORPHA:40
HP:0003307	Hyperlordosis	2010	EMD	ORPHA:98863
HP:0003307	Hyperlordosis	3339	HSPG2	ORPHA:800
HP:0003307	Hyperlordosis	5286	PIK3C2A	ORPHA:557003
HP:0003307	Hyperlordosis	1513	CTSK	ORPHA:763
HP:0003307	Hyperlordosis	83452	RAB33B	OMIM:615222
HP:0003307	Hyperlordosis	9427	ECEL1	OMIM:615065
HP:0003307	Hyperlordosis	51763	INPP5K	OMIM:617404
HP:0003307	Hyperlordosis	7227	TRPS1	OMIM:190350
HP:0003307	Hyperlordosis	7227	TRPS1	ORPHA:77258
HP:0003307	Hyperlordosis	284119	CAVIN1	OMIM:613327
HP:0003307	Hyperlordosis	1861	TOR1A	OMIM:128100
HP:0003307	Hyperlordosis	79188	TMEM43	ORPHA:98853
HP:0003307	Hyperlordosis	23345	SYNE1	ORPHA:98853
HP:0003307	Hyperlordosis	23224	SYNE2	ORPHA:98853
HP:0003307	Hyperlordosis	4322	MMP13	ORPHA:2501
HP:0002942	Thoracic kyphosis	54808	DYM	OMIM:223800
HP:0002942	Thoracic kyphosis	22827	PUF60	ORPHA:508498
HP:0002942	Thoracic kyphosis	6399	TRAPPC2	ORPHA:93284
HP:0002942	Thoracic kyphosis	4784	NFIX	OMIM:602535
HP:0002942	Thoracic kyphosis	65082	VPS33A	ORPHA:505248
HP:0002942	Thoracic kyphosis	9131	AIFM1	OMIM:300232
HP:0002942	Thoracic kyphosis	4677	NARS1	OMIM:619092
HP:0002942	Thoracic kyphosis	339855	KY	OMIM:617114
HP:0002942	Thoracic kyphosis	5286	PIK3C2A	OMIM:618440
HP:0002942	Thoracic kyphosis	5286	PIK3C2A	ORPHA:557003
HP:0002942	Thoracic kyphosis	124997	WDR81	OMIM:610185
HP:0002942	Thoracic kyphosis	1593	CYP27A1	ORPHA:909
HP:0002942	Thoracic kyphosis	5593	PRKG2	OMIM:619638
HP:0002942	Thoracic kyphosis	7169	TPM2	OMIM:609285
HP:0002942	Thoracic kyphosis	1280	COL2A1	OMIM:609162
HP:0002942	Thoracic kyphosis	29123	ANKRD11	ORPHA:2332
HP:0002942	Thoracic kyphosis	29123	ANKRD11	OMIM:148050
HP:0002942	Thoracic kyphosis	170689	ADAMTS15	OMIM:620545
HP:0002942	Thoracic kyphosis	404672	GTF2H5	ORPHA:33364
HP:0002942	Thoracic kyphosis	833	CARS1	ORPHA:33364
HP:0002942	Thoracic kyphosis	2068	ERCC2	ORPHA:33364
HP:0002942	Thoracic kyphosis	7737	RNF113A	ORPHA:33364
HP:0002942	Thoracic kyphosis	136647	MPLKIP	ORPHA:33364
HP:0002942	Thoracic kyphosis	6897	TARS1	ORPHA:33364
HP:0002942	Thoracic kyphosis	16	AARS1	ORPHA:33364
HP:0002942	Thoracic kyphosis	2071	ERCC3	ORPHA:33364
HP:0002942	Thoracic kyphosis	2961	GTF2E2	ORPHA:33364
HP:0002942	Thoracic kyphosis	59341	TRPV4	ORPHA:93314
HP:0002942	Thoracic kyphosis	4796	TONSL	OMIM:271510
HP:0002942	Thoracic kyphosis	224	ALDH3A2	OMIM:270200
HP:0002942	Thoracic kyphosis	4000	LMNA	OMIM:181350
HP:0002942	Thoracic kyphosis	23133	PHF8	OMIM:300263
HP:0002942	Thoracic kyphosis	6261	RYR1	OMIM:619542
HP:0002942	Thoracic kyphosis	164	AP1G1	OMIM:619467
HP:0002942	Thoracic kyphosis	6023	RMRP	OMIM:607095
HP:0002942	Thoracic kyphosis	64132	XYLT2	ORPHA:85194
HP:0002942	Thoracic kyphosis	50485	SMARCAL1	OMIM:242900
HP:0002942	Thoracic kyphosis	79644	SRD5A3	OMIM:612713
HP:0002942	Thoracic kyphosis	1756	DMD	ORPHA:206546
HP:0002942	Thoracic kyphosis	283450	HECTD4	OMIM:620250
HP:0002942	Thoracic kyphosis	8838	CCN6	ORPHA:1159
HP:0002942	Thoracic kyphosis	1009	CDH11	ORPHA:1299
HP:0002942	Thoracic kyphosis	25871	NEPRO	OMIM:618853
HP:0002942	Thoracic kyphosis	10940	POP1	OMIM:617396
HP:0002942	Thoracic kyphosis	4247	MGAT2	OMIM:212066
HP:0002942	Thoracic kyphosis	8022	LHX3	ORPHA:231720
HP:0002942	Thoracic kyphosis	79158	GNPTAB	OMIM:252500
HP:0002942	Thoracic kyphosis	4882	NPR2	OMIM:602875
HP:0002942	Thoracic kyphosis	139285	AMER1	OMIM:300373
HP:0002942	Thoracic kyphosis	2137	EXTL3	ORPHA:508533
HP:0002942	Thoracic kyphosis	2137	EXTL3	OMIM:617425
HP:0002942	Thoracic kyphosis	2317	FLNB	ORPHA:56305
HP:0002942	Thoracic kyphosis	2261	FGFR3	ORPHA:15
HP:0002942	Thoracic kyphosis	3835	KIF22	ORPHA:93360
HP:0002942	Thoracic kyphosis	116931	MED12L	OMIM:618872
HP:0002942	Thoracic kyphosis	2629	GBA1	ORPHA:2072
HP:0002942	Thoracic kyphosis	4125	MAN2B1	OMIM:248500
HP:0002942	Thoracic kyphosis	2990	GUSB	OMIM:253220
HP:0002942	Thoracic kyphosis	23219	FBXO28	OMIM:619777
HP:0002942	Thoracic kyphosis	3930	LBR	OMIM:618019
HP:0002942	Thoracic kyphosis	2720	GLB1	OMIM:230600
HP:0002942	Thoracic kyphosis	1836	SLC26A2	ORPHA:628
HP:0002943	Thoracic scoliosis	22827	PUF60	ORPHA:508498
HP:0002943	Thoracic scoliosis	22827	PUF60	ORPHA:508488
HP:0002943	Thoracic scoliosis	7840	ALMS1	ORPHA:64
HP:0002943	Thoracic scoliosis	91574	MTRFR	ORPHA:254930
HP:0002943	Thoracic scoliosis	3094	HINT1	ORPHA:324442
HP:0002943	Thoracic scoliosis	124997	WDR81	OMIM:610185
HP:0002943	Thoracic scoliosis	5593	PRKG2	OMIM:619636
HP:0002943	Thoracic scoliosis	6442	SGCA	ORPHA:62
HP:0002943	Thoracic scoliosis	8085	KMT2D	OMIM:620186
HP:0002943	Thoracic scoliosis	8085	KMT2D	OMIM:147920
HP:0002943	Thoracic scoliosis	10613	ERLIN1	ORPHA:401785
HP:0002943	Thoracic scoliosis	10613	ERLIN1	OMIM:615681
HP:0002943	Thoracic scoliosis	10733	PLK4	OMIM:616171
HP:0002943	Thoracic scoliosis	91754	NEK9	OMIM:617022
HP:0002943	Thoracic scoliosis	2137	EXTL3	OMIM:617425
HP:0002943	Thoracic scoliosis	6662	SOX9	OMIM:114290
HP:0002943	Thoracic scoliosis	25782	RAB3GAP2	OMIM:212720
HP:0002943	Thoracic scoliosis	58	ACTA1	OMIM:620278
HP:0002943	Thoracic scoliosis	7841	MOGS	ORPHA:79330
HP:0002943	Thoracic scoliosis	7841	MOGS	OMIM:606056
HP:0002943	Thoracic scoliosis	9573	GDF3	OMIM:613702
HP:0002943	Thoracic scoliosis	2799	GNS	OMIM:252940
HP:0002943	Thoracic scoliosis	9382	COG1	OMIM:611209
HP:0002943	Thoracic scoliosis	6329	SCN4A	OMIM:620351
HP:0002943	Thoracic scoliosis	6329	SCN4A	OMIM:620369
HP:0002943	Thoracic scoliosis	5932	RBBP8	OMIM:251255
HP:0002943	Thoracic scoliosis	5296	PIK3R2	OMIM:603387
HP:0002943	Thoracic scoliosis	4784	NFIX	OMIM:602535
HP:0002943	Thoracic scoliosis	84665	MYPN	ORPHA:171881
HP:0002943	Thoracic scoliosis	7169	TPM2	ORPHA:171881
HP:0002943	Thoracic scoliosis	7170	TPM3	ORPHA:171881
HP:0002943	Thoracic scoliosis	165	AEBP1	OMIM:618000
HP:0002943	Thoracic scoliosis	165	AEBP1	ORPHA:536532
HP:0002943	Thoracic scoliosis	10381	TUBB3	ORPHA:300570
HP:0002943	Thoracic scoliosis	4625	MYH7	OMIM:255160
HP:0002943	Thoracic scoliosis	5351	PLOD1	ORPHA:1900
HP:0002943	Thoracic scoliosis	157680	VPS13B	OMIM:216550
HP:0002943	Thoracic scoliosis	6910	TBX5	OMIM:142900
HP:0002943	Thoracic scoliosis	7543	ZFX	OMIM:301118
HP:0002943	Thoracic scoliosis	55969	RAB5IF	OMIM:616994
HP:0002943	Thoracic scoliosis	9531	BAG3	OMIM:612954
HP:0002943	Thoracic scoliosis	1756	DMD	ORPHA:206546
HP:0002943	Thoracic scoliosis	871	SERPINH1	OMIM:613848
HP:0002943	Thoracic scoliosis	5830	PEX5	OMIM:616716
HP:0002943	Thoracic scoliosis	7403	KDM6A	OMIM:147920
HP:0002943	Thoracic scoliosis	6660	SOX5	ORPHA:313892
HP:0002943	Thoracic scoliosis	7703	PCGF2	OMIM:618371
HP:0002943	Thoracic scoliosis	83932	SPRTN	OMIM:616200
HP:0002943	Thoracic scoliosis	579	NKX3-2	OMIM:613330
HP:0002943	Thoracic scoliosis	83737	ITCH	OMIM:613385
HP:0002943	Thoracic scoliosis	1674	DES	ORPHA:98909
HP:0002943	Thoracic scoliosis	4000	LMNA	ORPHA:1662
HP:0002943	Thoracic scoliosis	10269	ZMPSTE24	ORPHA:1662
HP:0002943	Thoracic scoliosis	55699	IARS2	ORPHA:436174
HP:0002943	Thoracic scoliosis	57211	ADGRG6	OMIM:616503
HP:0002943	Thoracic scoliosis	29920	PYCR2	ORPHA:481152
HP:0002943	Thoracic scoliosis	1134	CHRNA1	ORPHA:98913
HP:0002943	Thoracic scoliosis	4038	LRP4	ORPHA:98913
HP:0002943	Thoracic scoliosis	1305	COL13A1	ORPHA:98913
HP:0002943	Thoracic scoliosis	1140	CHRNB1	ORPHA:98913
HP:0002943	Thoracic scoliosis	1144	CHRND	ORPHA:98913
HP:0002943	Thoracic scoliosis	1145	CHRNE	ORPHA:98913
HP:0002943	Thoracic scoliosis	4593	MUSK	ORPHA:98913
HP:0002943	Thoracic scoliosis	5913	RAPSN	ORPHA:98913
HP:0002943	Thoracic scoliosis	375790	AGRN	ORPHA:98913
HP:0002943	Thoracic scoliosis	221264	AK9	ORPHA:98913
HP:0002943	Thoracic scoliosis	285489	DOK7	ORPHA:98913
HP:0002944	Thoracolumbar scoliosis	3476	IGBP1	OMIM:300472
HP:0002944	Thoracolumbar scoliosis	9968	MED12	OMIM:301068
HP:0002944	Thoracolumbar scoliosis	4920	ROR2	OMIM:268310
HP:0002944	Thoracolumbar scoliosis	4920	ROR2	OMIM:113000
HP:0002944	Thoracolumbar scoliosis	1146	CHRNG	OMIM:265000
HP:0002944	Thoracolumbar scoliosis	23162	MAPK8IP3	OMIM:618443
HP:0002944	Thoracolumbar scoliosis	3190	HNRNPK	OMIM:616580
HP:0002944	Thoracolumbar scoliosis	63895	PIEZO2	OMIM:114300
HP:0002944	Thoracolumbar scoliosis	89970	RSPRY1	ORPHA:457395
HP:0002944	Thoracolumbar scoliosis	89970	RSPRY1	OMIM:616723
HP:0002944	Thoracolumbar scoliosis	8239	USP9X	ORPHA:480880
HP:0002944	Thoracolumbar scoliosis	3572	IL6ST	OMIM:618523
HP:0002944	Thoracolumbar scoliosis	84700	MYO18B	OMIM:616549
HP:0002944	Thoracolumbar scoliosis	1292	COL6A2	OMIM:255600
HP:0002944	Thoracolumbar scoliosis	5159	PDGFRB	OMIM:616592
HP:0002944	Thoracolumbar scoliosis	1278	COL1A2	ORPHA:230851
HP:0002944	Thoracolumbar scoliosis	169792	GLIS3	OMIM:610199
HP:0002944	Thoracolumbar scoliosis	2783	GNB2	OMIM:619503
HP:0002944	Thoracolumbar scoliosis	3930	LBR	OMIM:618019
HP:0002944	Thoracolumbar scoliosis	23529	CLCF1	OMIM:610313
HP:0002944	Thoracolumbar scoliosis	64221	ROBO3	OMIM:607313
HP:0002944	Thoracolumbar scoliosis	6874	TAF4	OMIM:620450
HP:0002944	Thoracolumbar scoliosis	8838	CCN6	ORPHA:1159
HP:0002944	Thoracolumbar scoliosis	1836	SLC26A2	ORPHA:56304
HP:0002944	Thoracolumbar scoliosis	1009	CDH11	ORPHA:1299
HP:0002944	Thoracolumbar scoliosis	25871	NEPRO	OMIM:618853
HP:0002944	Thoracolumbar scoliosis	10940	POP1	OMIM:617396
HP:0002944	Thoracolumbar scoliosis	4247	MGAT2	OMIM:212066
HP:0002944	Thoracolumbar scoliosis	8022	LHX3	ORPHA:231720
HP:0002944	Thoracolumbar scoliosis	79158	GNPTAB	OMIM:252500
HP:0002944	Thoracolumbar scoliosis	1280	COL2A1	OMIM:156550
HP:0002944	Thoracolumbar scoliosis	10533	ATG7	OMIM:619422
HP:0002944	Thoracolumbar scoliosis	9361	LONP1	OMIM:600373
HP:0002944	Thoracolumbar scoliosis	10733	PLK4	OMIM:616171
HP:0002944	Thoracolumbar scoliosis	7840	ALMS1	ORPHA:64
HP:0002944	Thoracolumbar scoliosis	6134	RPL10	OMIM:300998
HP:0002944	Thoracolumbar scoliosis	55870	ASH1L	OMIM:617796
HP:0002944	Thoracolumbar scoliosis	51199	NIN	OMIM:614851
HP:0002944	Thoracolumbar scoliosis	51199	NIN	ORPHA:319675
HP:0002944	Thoracolumbar scoliosis	164	AP1G1	OMIM:619548
HP:0002944	Thoracolumbar scoliosis	347734	SLC35B2	OMIM:620269
HP:0002944	Thoracolumbar scoliosis	9060	PAPSS2	OMIM:612847
HP:0002944	Thoracolumbar scoliosis	526	ATP6V1B2	ORPHA:79500
HP:0002944	Thoracolumbar scoliosis	57465	TBC1D24	ORPHA:79500
HP:0002944	Thoracolumbar scoliosis	3373	HYAL1	OMIM:601492
HP:0002944	Thoracolumbar scoliosis	3417	IDH1	ORPHA:99646
HP:0002945	Intervertebral space narrowing	9469	CHST3	OMIM:143095
HP:0002945	Intervertebral space narrowing	9469	CHST3	ORPHA:263463
HP:0002945	Intervertebral space narrowing	2335	FN1	ORPHA:93315
HP:0002945	Intervertebral space narrowing	1280	COL2A1	ORPHA:93315
HP:0002945	Intervertebral space narrowing	1280	COL2A1	OMIM:609162
HP:0002945	Intervertebral space narrowing	1297	COL9A1	OMIM:614134
HP:0002945	Intervertebral space narrowing	6399	TRAPPC2	ORPHA:93284
HP:0002945	Intervertebral space narrowing	4054	LTBP3	OMIM:601216
HP:0002945	Intervertebral space narrowing	54928	BPNT2	OMIM:614078
HP:0002945	Intervertebral space narrowing	4509	MT-ATP8	ORPHA:480
HP:0002945	Intervertebral space narrowing	4567	MT-TL1	ORPHA:480
HP:0002945	Intervertebral space narrowing	50484	RRM2B	ORPHA:480
HP:0002946	Supernumerary vertebrae	5077	PAX3	OMIM:193500
HP:0002946	Supernumerary vertebrae	1723	DHODH	OMIM:263750
HP:0002946	Supernumerary vertebrae	2719	GPC3	OMIM:312870
HP:0002946	Supernumerary vertebrae	2239	GPC4	OMIM:312870
HP:0002946	Supernumerary vertebrae	10220	GDF11	OMIM:619122
HP:0002947	Cervical kyphosis	1836	SLC26A2	ORPHA:56304
HP:0002947	Cervical kyphosis	1836	SLC26A2	OMIM:256050
HP:0002947	Cervical kyphosis	1836	SLC26A2	OMIM:222600
HP:0002947	Cervical kyphosis	1836	SLC26A2	ORPHA:93307
HP:0002947	Cervical kyphosis	1836	SLC26A2	ORPHA:628
HP:0002947	Cervical kyphosis	2317	FLNB	OMIM:150250
HP:0002947	Cervical kyphosis	2317	FLNB	OMIM:108721
HP:0002947	Cervical kyphosis	64412	GZF1	OMIM:617662
HP:0002947	Cervical kyphosis	113189	CHST14	ORPHA:2953
HP:0002947	Cervical kyphosis	29940	DSE	ORPHA:2953
HP:0002947	Cervical kyphosis	134701	RIPPLY2	OMIM:616566
HP:0002947	Cervical kyphosis	6662	SOX9	OMIM:114290
HP:0002947	Cervical kyphosis	3339	HSPG2	OMIM:255800
HP:0002947	Cervical kyphosis	415	ARSL	ORPHA:79345
HP:0002949	Fused cervical vertebrae	22827	PUF60	ORPHA:508498
HP:0002949	Fused cervical vertebrae	1146	CHRNG	OMIM:265000
HP:0002949	Fused cervical vertebrae	5888	RAD51	ORPHA:238722
HP:0002949	Fused cervical vertebrae	10126	DNAL4	ORPHA:238722
HP:0002949	Fused cervical vertebrae	9423	NTN1	ORPHA:238722
HP:0002949	Fused cervical vertebrae	1630	DCC	ORPHA:238722
HP:0002949	Fused cervical vertebrae	2316	FLNA	OMIM:305620
HP:0002949	Fused cervical vertebrae	2316	FLNA	ORPHA:1826
HP:0002949	Fused cervical vertebrae	5167	ENPP1	ORPHA:51608
HP:0002949	Fused cervical vertebrae	368	ABCC6	ORPHA:51608
HP:0002949	Fused cervical vertebrae	22943	DKK1	ORPHA:268882
HP:0002949	Fused cervical vertebrae	6885	MAP3K7	OMIM:617137
HP:0002949	Fused cervical vertebrae	6885	MAP3K7	ORPHA:1826
HP:0002949	Fused cervical vertebrae	6885	MAP3K7	OMIM:157800
HP:0002949	Fused cervical vertebrae	1108	CHD4	OMIM:617159
HP:0002949	Fused cervical vertebrae	4621	MYH3	OMIM:618469
HP:0002949	Fused cervical vertebrae	9939	RBM8A	ORPHA:3320
HP:0002949	Fused cervical vertebrae	9939	RBM8A	OMIM:274000
HP:0002949	Fused cervical vertebrae	57167	SALL4	OMIM:607323
HP:0002949	Fused cervical vertebrae	2317	FLNB	OMIM:108720
HP:0002949	Fused cervical vertebrae	1280	COL2A1	ORPHA:485
HP:0002949	Fused cervical vertebrae	9241	NOG	OMIM:184460
HP:0002949	Fused cervical vertebrae	55215	FANCI	OMIM:609053
HP:0002949	Fused cervical vertebrae	3557	IL1RN	OMIM:612852
HP:0002949	Fused cervical vertebrae	51729	WBP11	OMIM:619227
HP:0002949	Fused cervical vertebrae	4222	MEOX1	OMIM:214300
HP:0002949	Fused cervical vertebrae	90	ACVR1	ORPHA:337
HP:0002949	Fused cervical vertebrae	55252	ASXL2	OMIM:617190
HP:0002949	Fused cervical vertebrae	6910	TBX5	OMIM:142900
HP:0002949	Fused cervical vertebrae	27125	AFF4	ORPHA:444077
HP:0002949	Fused cervical vertebrae	27125	AFF4	OMIM:616368
HP:0002949	Fused cervical vertebrae	392255	GDF6	OMIM:118100
HP:0002949	Fused cervical vertebrae	392255	GDF6	ORPHA:2345
HP:0002949	Fused cervical vertebrae	55870	ASH1L	OMIM:617796
HP:0002949	Fused cervical vertebrae	7862	BRPF1	OMIM:617333
HP:0002949	Fused cervical vertebrae	165	AEBP1	OMIM:618000
HP:0002949	Fused cervical vertebrae	9573	GDF3	ORPHA:2345
HP:0002949	Fused cervical vertebrae	84700	MYO18B	OMIM:616549
HP:0002949	Fused cervical vertebrae	1009	CDH11	OMIM:211380
HP:0002949	Fused cervical vertebrae	2263	FGFR2	ORPHA:87
HP:0002949	Fused cervical vertebrae	2263	FGFR2	OMIM:101200
HP:0002949	Fused cervical vertebrae	5352	PLOD2	OMIM:609220
HP:0009601	Aplasia/Hypoplasia of the thumb	57167	SALL4	ORPHA:233
HP:0009601	Aplasia/Hypoplasia of the thumb	9935	MAFB	ORPHA:233
HP:0009601	Aplasia/Hypoplasia of the thumb	1123	CHN1	ORPHA:233
HP:0009601	Aplasia/Hypoplasia of the thumb	3981	LIG4	ORPHA:235
HP:0009601	Aplasia/Hypoplasia of the thumb	54888	NSUN2	ORPHA:235
HP:0009601	Aplasia/Hypoplasia of the thumb	5980	REV3L	ORPHA:570
HP:0009601	Aplasia/Hypoplasia of the thumb	23129	PLXND1	ORPHA:570
HP:0009601	Aplasia/Hypoplasia of the thumb	2263	FGFR2	ORPHA:87
HP:0009601	Aplasia/Hypoplasia of the thumb	2263	FGFR2	ORPHA:93258
HP:0009601	Aplasia/Hypoplasia of the thumb	10262	SF3B4	OMIM:154400
HP:0009601	Aplasia/Hypoplasia of the thumb	10262	SF3B4	ORPHA:245
HP:0009601	Aplasia/Hypoplasia of the thumb	9401	RECQL4	ORPHA:1225
HP:0009601	Aplasia/Hypoplasia of the thumb	5925	RB1	ORPHA:1587
HP:0009601	Aplasia/Hypoplasia of the thumb	64327	LMBR1	ORPHA:2378
HP:0009601	Aplasia/Hypoplasia of the thumb	64327	LMBR1	ORPHA:988
HP:0009601	Aplasia/Hypoplasia of the thumb	8200	GDF5	ORPHA:2098
HP:0009601	Aplasia/Hypoplasia of the thumb	658	BMPR1B	ORPHA:2098
HP:0009601	Aplasia/Hypoplasia of the thumb	6469	SHH	ORPHA:988
HP:0009601	Aplasia/Hypoplasia of the thumb	2260	FGFR1	ORPHA:93258
HP:0009601	Aplasia/Hypoplasia of the thumb	157570	ESCO2	ORPHA:3103
HP:0009601	Aplasia/Hypoplasia of the thumb	157570	ESCO2	OMIM:216100
HP:0009601	Aplasia/Hypoplasia of the thumb	80144	FRAS1	OMIM:219000
HP:0009601	Aplasia/Hypoplasia of the thumb	8626	TP63	ORPHA:1896
HP:0009601	Aplasia/Hypoplasia of the thumb	727857	BHLHA9	OMIM:609432
HP:0009601	Aplasia/Hypoplasia of the thumb	90459	ERI1	OMIM:620662
HP:0009601	Aplasia/Hypoplasia of the thumb	6885	MAP3K7	ORPHA:1826
HP:0009601	Aplasia/Hypoplasia of the thumb	5293	PIK3CD	ORPHA:221139
HP:0009601	Aplasia/Hypoplasia of the thumb	90417	KNSTRN	ORPHA:221139
HP:0009601	Aplasia/Hypoplasia of the thumb	2778	GNAS	ORPHA:79445
HP:0009601	Aplasia/Hypoplasia of the thumb	5727	PTCH1	OMIM:109400
HP:0009601	Aplasia/Hypoplasia of the thumb	7204	TRIO	ORPHA:476126
HP:0009601	Aplasia/Hypoplasia of the thumb	3756	KCNH1	ORPHA:420561
HP:0009601	Aplasia/Hypoplasia of the thumb	2188	FANCF	OMIM:603467
HP:0009601	Aplasia/Hypoplasia of the thumb	2177	FANCD2	OMIM:227646
HP:0009601	Aplasia/Hypoplasia of the thumb	2072	ERCC4	OMIM:615272
HP:0009601	Aplasia/Hypoplasia of the thumb	5889	RAD51C	OMIM:613390
HP:0009601	Aplasia/Hypoplasia of the thumb	2176	FANCC	OMIM:227645
HP:0009601	Aplasia/Hypoplasia of the thumb	6910	TBX5	ORPHA:392
HP:0009601	Aplasia/Hypoplasia of the thumb	6910	TBX5	OMIM:142900
HP:0009601	Aplasia/Hypoplasia of the thumb	55120	FANCL	OMIM:614083
HP:0009601	Aplasia/Hypoplasia of the thumb	6651	SON	ORPHA:500150
HP:0009601	Aplasia/Hypoplasia of the thumb	340419	RSPO2	OMIM:618022
HP:0009601	Aplasia/Hypoplasia of the thumb	2187	FANCB	OMIM:300514
HP:0009601	Aplasia/Hypoplasia of the thumb	84464	SLX4	OMIM:613951
HP:0009601	Aplasia/Hypoplasia of the thumb	6154	RPL26	OMIM:614900
HP:0009601	Aplasia/Hypoplasia of the thumb	6154	RPL26	ORPHA:124
HP:0009601	Aplasia/Hypoplasia of the thumb	8452	CUL3	OMIM:619239
HP:0009601	Aplasia/Hypoplasia of the thumb	5718	PSMD12	OMIM:617516
HP:0009601	Aplasia/Hypoplasia of the thumb	9939	RBM8A	OMIM:274000
HP:0009601	Aplasia/Hypoplasia of the thumb	6223	RPS19	OMIM:105650
HP:0009601	Aplasia/Hypoplasia of the thumb	6223	RPS19	ORPHA:124
HP:0009601	Aplasia/Hypoplasia of the thumb	9896	FIG4	OMIM:216340
HP:0009601	Aplasia/Hypoplasia of the thumb	9896	FIG4	ORPHA:3472
HP:0009601	Aplasia/Hypoplasia of the thumb	6138	RPL15	ORPHA:124
HP:0009601	Aplasia/Hypoplasia of the thumb	6224	RPS20	ORPHA:124
HP:0009601	Aplasia/Hypoplasia of the thumb	6165	RPL35A	ORPHA:124
HP:0009601	Aplasia/Hypoplasia of the thumb	6132	RPL8	ORPHA:124
HP:0009601	Aplasia/Hypoplasia of the thumb	6232	RPS27	ORPHA:124
HP:0009601	Aplasia/Hypoplasia of the thumb	55027	HEATR3	ORPHA:124
HP:0009601	Aplasia/Hypoplasia of the thumb	6160	RPL31	ORPHA:124
HP:0009601	Aplasia/Hypoplasia of the thumb	6201	RPS7	ORPHA:124
HP:0009601	Aplasia/Hypoplasia of the thumb	6155	RPL27	ORPHA:124
HP:0009601	Aplasia/Hypoplasia of the thumb	6234	RPS28	ORPHA:124
HP:0009601	Aplasia/Hypoplasia of the thumb	6135	RPL11	ORPHA:124
HP:0009601	Aplasia/Hypoplasia of the thumb	6229	RPS24	ORPHA:124
HP:0009601	Aplasia/Hypoplasia of the thumb	6125	RPL5	ORPHA:124
HP:0009601	Aplasia/Hypoplasia of the thumb	6204	RPS10	ORPHA:124
HP:0009601	Aplasia/Hypoplasia of the thumb	2623	GATA1	ORPHA:124
HP:0009601	Aplasia/Hypoplasia of the thumb	6133	RPL9	ORPHA:124
HP:0009601	Aplasia/Hypoplasia of the thumb	6231	RPS26	ORPHA:124
HP:0009601	Aplasia/Hypoplasia of the thumb	11224	RPL35	ORPHA:124
HP:0009601	Aplasia/Hypoplasia of the thumb	6218	RPS17	ORPHA:124
HP:0009601	Aplasia/Hypoplasia of the thumb	6210	RPS15A	ORPHA:124
HP:0009601	Aplasia/Hypoplasia of the thumb	90121	TSR2	ORPHA:124
HP:0009601	Aplasia/Hypoplasia of the thumb	6141	RPL18	ORPHA:124
HP:0009601	Aplasia/Hypoplasia of the thumb	6235	RPS29	ORPHA:124
HP:0009601	Aplasia/Hypoplasia of the thumb	51816	ADA2	ORPHA:124
HP:0009601	Aplasia/Hypoplasia of the thumb	55697	VAC14	ORPHA:3472
HP:0009601	Aplasia/Hypoplasia of the thumb	2178	FANCE	OMIM:600901
HP:0009601	Aplasia/Hypoplasia of the thumb	54101	RIPK4	OMIM:263650
HP:0009601	Aplasia/Hypoplasia of the thumb	54101	RIPK4	ORPHA:1234
HP:0009601	Aplasia/Hypoplasia of the thumb	55159	RFWD3	OMIM:617784
HP:0009601	Aplasia/Hypoplasia of the thumb	5888	RAD51	OMIM:617244
HP:0009601	Aplasia/Hypoplasia of the thumb	2175	FANCA	OMIM:227650
HP:0009601	Aplasia/Hypoplasia of the thumb	55215	FANCI	OMIM:609053
HP:0009601	Aplasia/Hypoplasia of the thumb	7516	XRCC2	OMIM:617247
HP:0009601	Aplasia/Hypoplasia of the thumb	2261	FGFR3	ORPHA:2363
HP:0009601	Aplasia/Hypoplasia of the thumb	2255	FGF10	ORPHA:2363
HP:0009601	Aplasia/Hypoplasia of the thumb	79728	PALB2	OMIM:610832
HP:0009601	Aplasia/Hypoplasia of the thumb	29980	DONSON	OMIM:251230
HP:0009601	Aplasia/Hypoplasia of the thumb	1280	COL2A1	OMIM:271700
HP:0009601	Aplasia/Hypoplasia of the thumb	100151683	RNU4ATAC	OMIM:210710
HP:0009601	Aplasia/Hypoplasia of the thumb	23028	KDM1A	OMIM:616728
HP:0009601	Aplasia/Hypoplasia of the thumb	23028	KDM1A	ORPHA:477993
HP:0009601	Aplasia/Hypoplasia of the thumb	29998	BICRA	OMIM:619325
HP:0009601	Aplasia/Hypoplasia of the thumb	1723	DHODH	OMIM:263750
HP:0009601	Aplasia/Hypoplasia of the thumb	1836	SLC26A2	ORPHA:93307
HP:0009601	Aplasia/Hypoplasia of the thumb	83990	BRIP1	OMIM:609054
HP:0009601	Aplasia/Hypoplasia of the thumb	10847	SRCAP	ORPHA:2044
HP:0009601	Aplasia/Hypoplasia of the thumb	526	ATP6V1B2	ORPHA:79499
HP:0009601	Aplasia/Hypoplasia of the thumb	4038	LRP4	ORPHA:3258
HP:0009601	Aplasia/Hypoplasia of the thumb	324	APC	ORPHA:3258
HP:0009601	Aplasia/Hypoplasia of the thumb	3549	IHH	ORPHA:93388
HP:0009601	Aplasia/Hypoplasia of the thumb	176	ACAN	ORPHA:435804
HP:0009601	Aplasia/Hypoplasia of the thumb	176	ACAN	OMIM:165800
HP:0009601	Aplasia/Hypoplasia of the thumb	54880	BCOR	ORPHA:2712
HP:0009601	Aplasia/Hypoplasia of the thumb	3209	HOXA13	ORPHA:2438
HP:0009601	Aplasia/Hypoplasia of the thumb	3209	HOXA13	OMIM:176305
HP:0009601	Aplasia/Hypoplasia of the thumb	7020	TFAP2A	OMIM:113620
HP:0009601	Aplasia/Hypoplasia of the thumb	1717	DHCR7	OMIM:270400
HP:0009601	Aplasia/Hypoplasia of the thumb	10815	CPLX1	ORPHA:280
HP:0009601	Aplasia/Hypoplasia of the thumb	10815	CPLX1	OMIM:194190
HP:0009601	Aplasia/Hypoplasia of the thumb	54872	PIGG	ORPHA:280
HP:0009601	Aplasia/Hypoplasia of the thumb	7469	NELFA	ORPHA:280
HP:0009601	Aplasia/Hypoplasia of the thumb	1487	CTBP1	ORPHA:280
HP:0009601	Aplasia/Hypoplasia of the thumb	1487	CTBP1	OMIM:194190
HP:0009601	Aplasia/Hypoplasia of the thumb	3954	LETM1	ORPHA:280
HP:0009601	Aplasia/Hypoplasia of the thumb	3954	LETM1	OMIM:194190
HP:0009601	Aplasia/Hypoplasia of the thumb	7468	NSD2	ORPHA:280
HP:0009601	Aplasia/Hypoplasia of the thumb	7468	NSD2	OMIM:194190
HP:0009601	Aplasia/Hypoplasia of the thumb	4613	MYCN	OMIM:164280
HP:0009601	Aplasia/Hypoplasia of the thumb	4613	MYCN	ORPHA:391641
HP:0009601	Aplasia/Hypoplasia of the thumb	55636	CHD7	OMIM:214800
HP:0009601	Aplasia/Hypoplasia of the thumb	25942	SIN3A	OMIM:613406
HP:0009601	Aplasia/Hypoplasia of the thumb	53834	FGFRL1	OMIM:194190
HP:0009601	Aplasia/Hypoplasia of the thumb	2316	FLNA	ORPHA:90650
HP:0009601	Aplasia/Hypoplasia of the thumb	2316	FLNA	ORPHA:90652
HP:0009601	Aplasia/Hypoplasia of the thumb	2316	FLNA	OMIM:304120
HP:0009601	Aplasia/Hypoplasia of the thumb	2033	EP300	OMIM:180849
HP:0009601	Aplasia/Hypoplasia of the thumb	1387	CREBBP	OMIM:180849
HP:0009601	Aplasia/Hypoplasia of the thumb	91461	PKDCC	OMIM:618821
HP:0009601	Aplasia/Hypoplasia of the thumb	80036	TRPM3	OMIM:620224
HP:0009601	Aplasia/Hypoplasia of the thumb	374879	ZNF699	OMIM:619488
HP:0009601	Aplasia/Hypoplasia of the thumb	7750	ZMYM2	OMIM:619522
HP:0009601	Aplasia/Hypoplasia of the thumb	407975	MIR17HG	ORPHA:391646
HP:0009601	Aplasia/Hypoplasia of the thumb	675	BRCA2	OMIM:605724
HP:0009601	Aplasia/Hypoplasia of the thumb	50515	CHST11	OMIM:618167
HP:0009601	Aplasia/Hypoplasia of the thumb	4256	MGP	OMIM:245150
HP:0009601	Aplasia/Hypoplasia of the thumb	9968	MED12	OMIM:300895
HP:0009601	Aplasia/Hypoplasia of the thumb	84823	LMNB2	OMIM:616540
HP:0009601	Aplasia/Hypoplasia of the thumb	2200	FBN1	ORPHA:3449
HP:0009601	Aplasia/Hypoplasia of the thumb	170691	ADAMTS17	ORPHA:3449
HP:0009601	Aplasia/Hypoplasia of the thumb	4053	LTBP2	ORPHA:3449
HP:0009601	Aplasia/Hypoplasia of the thumb	81794	ADAMTS10	ORPHA:3449
HP:0009601	Aplasia/Hypoplasia of the thumb	374969	SVBP	OMIM:618569
HP:0009601	Aplasia/Hypoplasia of the thumb	26100	WIPI2	OMIM:618453
HP:0009601	Aplasia/Hypoplasia of the thumb	9775	EIF4A3	OMIM:268305
HP:0009601	Aplasia/Hypoplasia of the thumb	29089	UBE2T	OMIM:616435
HP:0009601	Aplasia/Hypoplasia of the thumb	2535	FZD2	OMIM:164745
HP:0009601	Aplasia/Hypoplasia of the thumb	2535	FZD2	ORPHA:93328
HP:0009601	Aplasia/Hypoplasia of the thumb	23476	BRD4	ORPHA:199
HP:0009601	Aplasia/Hypoplasia of the thumb	23476	BRD4	OMIM:620568
HP:0009601	Aplasia/Hypoplasia of the thumb	9126	SMC3	ORPHA:199
HP:0009601	Aplasia/Hypoplasia of the thumb	8243	SMC1A	ORPHA:199
HP:0009601	Aplasia/Hypoplasia of the thumb	6878	TAF6	ORPHA:199
HP:0009601	Aplasia/Hypoplasia of the thumb	25836	NIPBL	ORPHA:199
HP:0009601	Aplasia/Hypoplasia of the thumb	55869	HDAC8	ORPHA:199
HP:0009601	Aplasia/Hypoplasia of the thumb	5885	RAD21	ORPHA:199
HP:0009601	Aplasia/Hypoplasia of the thumb	90	ACVR1	OMIM:135100
HP:0009601	Aplasia/Hypoplasia of the thumb	57020	VPS35L	OMIM:619135
HP:0009601	Aplasia/Hypoplasia of the thumb	9241	NOG	OMIM:186570
HP:0009601	Aplasia/Hypoplasia of the thumb	9241	NOG	OMIM:611377
HP:0009601	Aplasia/Hypoplasia of the thumb	6091	ROBO1	OMIM:620305
HP:0009601	Aplasia/Hypoplasia of the thumb	6662	SOX9	OMIM:114290
HP:0009601	Aplasia/Hypoplasia of the thumb	5116	PCNT	OMIM:210720
HP:0009601	Aplasia/Hypoplasia of the thumb	26040	SETBP1	OMIM:269150
HP:0009601	Aplasia/Hypoplasia of the thumb	26040	SETBP1	ORPHA:798
HP:0009601	Aplasia/Hypoplasia of the thumb	388015	RTL1	ORPHA:96334
HP:0009601	Aplasia/Hypoplasia of the thumb	8788	DLK1	ORPHA:96334
HP:0009601	Aplasia/Hypoplasia of the thumb	55384	MEG3	ORPHA:96334
HP:0009601	Aplasia/Hypoplasia of the thumb	3911	LAMA5	OMIM:620076
HP:0009601	Aplasia/Hypoplasia of the thumb	124583	CANT1	OMIM:251450
HP:0002951	Partial absence of cerebellar vermis	3145	HMBS	OMIM:620704
HP:0002951	Partial absence of cerebellar vermis	55690	PACS1	ORPHA:329224
HP:0002951	Partial absence of cerebellar vermis	4983	OPHN1	ORPHA:137831
HP:0002951	Partial absence of cerebellar vermis	23556	PIGN	ORPHA:280633
HP:0002951	Partial absence of cerebellar vermis	23007	PLCH1	OMIM:619895
HP:0002951	Partial absence of cerebellar vermis	29954	POMT2	OMIM:613150
HP:0004586	Biconcave vertebral bodies	64802	NMNAT1	OMIM:619260
HP:0004586	Biconcave vertebral bodies	51360	MBTPS2	OMIM:301014
HP:0004586	Biconcave vertebral bodies	6399	TRAPPC2	ORPHA:93284
HP:0004586	Biconcave vertebral bodies	4854	NOTCH3	OMIM:130720
HP:0004586	Biconcave vertebral bodies	5176	SERPINF1	OMIM:613982
HP:0004586	Biconcave vertebral bodies	2335	FN1	ORPHA:93315
HP:0004586	Biconcave vertebral bodies	1280	COL2A1	ORPHA:93315
HP:0004586	Biconcave vertebral bodies	55603	TENT5A	OMIM:617952
HP:0004586	Biconcave vertebral bodies	4853	NOTCH2	OMIM:102500
HP:0004586	Biconcave vertebral bodies	4853	NOTCH2	ORPHA:955
HP:0004586	Biconcave vertebral bodies	92344	GORAB	ORPHA:2078
HP:0004586	Biconcave vertebral bodies	92344	GORAB	OMIM:231070
HP:0004586	Biconcave vertebral bodies	5831	PYCR1	ORPHA:2078
HP:0004586	Biconcave vertebral bodies	9049	AIP	OMIM:219090
HP:0004586	Biconcave vertebral bodies	9101	USP8	OMIM:219090
HP:0004586	Biconcave vertebral bodies	875	CBS	OMIM:236200
HP:0004586	Biconcave vertebral bodies	3425	IDUA	OMIM:607014
HP:0004586	Biconcave vertebral bodies	4041	LRP5	OMIM:259770
HP:0004586	Biconcave vertebral bodies	1277	COL1A1	OMIM:259420
HP:0004586	Biconcave vertebral bodies	1278	COL1A2	OMIM:259420
HP:0004586	Biconcave vertebral bodies	4796	TONSL	ORPHA:93357
HP:0004586	Biconcave vertebral bodies	4796	TONSL	OMIM:271510
HP:0004586	Biconcave vertebral bodies	387733	IFITM5	OMIM:610967
HP:0004586	Biconcave vertebral bodies	60681	FKBP10	OMIM:610968
HP:0004586	Biconcave vertebral bodies	54187	NANS	OMIM:610442
HP:0004586	Biconcave vertebral bodies	26137	ZBTB20	OMIM:259050
HP:0004586	Biconcave vertebral bodies	26137	ZBTB20	ORPHA:3042
HP:0004586	Biconcave vertebral bodies	3835	KIF22	OMIM:603546
HP:0004586	Biconcave vertebral bodies	153642	ARSK	OMIM:619698
HP:0002953	Vertebral compression fracture	64132	XYLT2	OMIM:605822
HP:0002953	Vertebral compression fracture	65992	DDRGK1	OMIM:602557
HP:0002953	Vertebral compression fracture	65992	DDRGK1	ORPHA:93352
HP:0002953	Vertebral compression fracture	84196	USP48	ORPHA:96253
HP:0002953	Vertebral compression fracture	7157	TP53	ORPHA:96253
HP:0002953	Vertebral compression fracture	9101	USP8	ORPHA:96253
HP:0002953	Vertebral compression fracture	9101	USP8	OMIM:219090
HP:0002953	Vertebral compression fracture	64072	CDH23	ORPHA:96253
HP:0002953	Vertebral compression fracture	2908	NR3C1	ORPHA:96253
HP:0002953	Vertebral compression fracture	673	BRAF	ORPHA:96253
HP:0002953	Vertebral compression fracture	546	ATRX	ORPHA:96253
HP:0002953	Vertebral compression fracture	595	CCND1	ORPHA:29073
HP:0002953	Vertebral compression fracture	7390	UROS	OMIM:263700
HP:0002953	Vertebral compression fracture	5034	P4HB	OMIM:112240
HP:0002953	Vertebral compression fracture	55603	TENT5A	OMIM:617952
HP:0002953	Vertebral compression fracture	10491	CRTAP	OMIM:610682
HP:0002953	Vertebral compression fracture	4853	NOTCH2	OMIM:102500
HP:0002953	Vertebral compression fracture	6611	SMS	OMIM:309583
HP:0002953	Vertebral compression fracture	23184	MESD	OMIM:618644
HP:0002953	Vertebral compression fracture	92344	GORAB	ORPHA:2078
HP:0002953	Vertebral compression fracture	92344	GORAB	OMIM:231070
HP:0002953	Vertebral compression fracture	5831	PYCR1	ORPHA:2078
HP:0002953	Vertebral compression fracture	90993	CREB3L1	OMIM:616229
HP:0002953	Vertebral compression fracture	5479	PPIB	OMIM:259440
HP:0002953	Vertebral compression fracture	6678	SPARC	OMIM:616507
HP:0002953	Vertebral compression fracture	83550	GPR101	ORPHA:963
HP:0002953	Vertebral compression fracture	9049	AIP	ORPHA:963
HP:0002953	Vertebral compression fracture	9049	AIP	OMIM:219090
HP:0002953	Vertebral compression fracture	60681	FKBP10	OMIM:610968
HP:0002953	Vertebral compression fracture	4313	MMP2	OMIM:259600
HP:0002953	Vertebral compression fracture	2629	GBA1	OMIM:230800
HP:0002953	Vertebral compression fracture	2629	GBA1	ORPHA:77259
HP:0002953	Vertebral compression fracture	5176	SERPINF1	OMIM:613982
HP:0002953	Vertebral compression fracture	8792	TNFRSF11A	OMIM:602080
HP:0002953	Vertebral compression fracture	7471	WNT1	ORPHA:85193
HP:0002953	Vertebral compression fracture	22943	DKK1	ORPHA:85193
HP:0002953	Vertebral compression fracture	89780	WNT3A	ORPHA:85193
HP:0002953	Vertebral compression fracture	4041	LRP5	OMIM:259770
HP:0002953	Vertebral compression fracture	871	SERPINH1	OMIM:613848
HP:0002953	Vertebral compression fracture	4773	NFATC2	OMIM:620232
HP:0002953	Vertebral compression fracture	950	SCARB2	ORPHA:77259
HP:0002953	Vertebral compression fracture	134218	DNAJC21	ORPHA:811
HP:0002953	Vertebral compression fracture	79631	EFL1	ORPHA:811
HP:0002953	Vertebral compression fracture	51119	SBDS	ORPHA:811
HP:0002953	Vertebral compression fracture	64175	P3H1	OMIM:610915
HP:0002953	Vertebral compression fracture	1277	COL1A1	OMIM:166200
HP:0000278	Retrognathia	3476	IGBP1	OMIM:300472
HP:0000278	Retrognathia	3476	IGBP1	ORPHA:52055
HP:0000278	Retrognathia	2294	FOXF1	OMIM:265380
HP:0000278	Retrognathia	2077	ERF	OMIM:600775
HP:0000278	Retrognathia	10262	SF3B4	OMIM:154400
HP:0000278	Retrognathia	8367	H4C5	OMIM:619950
HP:0000278	Retrognathia	10046	MAMLD1	ORPHA:456328
HP:0000278	Retrognathia	4534	MTM1	ORPHA:456328
HP:0000278	Retrognathia	8506	CNTNAP1	OMIM:618186
HP:0000278	Retrognathia	8425	LTBP4	OMIM:613177
HP:0000278	Retrognathia	10054	UBA2	OMIM:619959
HP:0000278	Retrognathia	57539	WDR35	OMIM:613610
HP:0000278	Retrognathia	81857	MED25	OMIM:616449
HP:0000278	Retrognathia	81857	MED25	ORPHA:464738
HP:0000278	Retrognathia	347734	SLC35B2	OMIM:620269
HP:0000278	Retrognathia	2629	GBA1	OMIM:608013
HP:0000278	Retrognathia	65267	WNK3	OMIM:309610
HP:0000278	Retrognathia	54968	TMEM70	ORPHA:1194
HP:0000278	Retrognathia	80816	ASXL3	OMIM:615485
HP:0000278	Retrognathia	6536	SLC6A9	OMIM:617301
HP:0000278	Retrognathia	318	NUDT2	OMIM:619844
HP:0000278	Retrognathia	129563	DIS3L2	ORPHA:2849
HP:0000278	Retrognathia	24142	NAA80	OMIM:620830
HP:0000278	Retrognathia	9915	ARNT2	OMIM:615926
HP:0000278	Retrognathia	29072	SETD2	OMIM:620157
HP:0000278	Retrognathia	29072	SETD2	OMIM:620155
HP:0000278	Retrognathia	26153	KIF26A	OMIM:620156
HP:0000278	Retrognathia	25778	DSTYK	OMIM:270750
HP:0000278	Retrognathia	3190	HNRNPK	OMIM:616580
HP:0000278	Retrognathia	57492	ARID1B	OMIM:135900
HP:0000278	Retrognathia	25885	POLR1A	OMIM:616462
HP:0000278	Retrognathia	80204	FBXO11	OMIM:618089
HP:0000278	Retrognathia	83871	RAB34	OMIM:620718
HP:0000278	Retrognathia	23184	MESD	OMIM:618644
HP:0000278	Retrognathia	51319	RSRC1	OMIM:618402
HP:0000278	Retrognathia	79184	BRCC3	ORPHA:280679
HP:0000278	Retrognathia	7841	MOGS	OMIM:606056
HP:0000278	Retrognathia	7841	MOGS	ORPHA:79330
HP:0000278	Retrognathia	171023	ASXL1	ORPHA:97297
HP:0000278	Retrognathia	171023	ASXL1	OMIM:605039
HP:0000278	Retrognathia	652	BMP4	OMIM:607932
HP:0000278	Retrognathia	8726	EED	OMIM:617561
HP:0000278	Retrognathia	26053	AUTS2	ORPHA:352490
HP:0000278	Retrognathia	84314	TMEM107	OMIM:617563
HP:0000278	Retrognathia	56992	KIF15	OMIM:619981
HP:0000278	Retrognathia	8550	MAPKAPK5	OMIM:619869
HP:0000278	Retrognathia	1954	MEGF8	OMIM:614976
HP:0000278	Retrognathia	11193	WBP4	OMIM:620852
HP:0000278	Retrognathia	89910	UBE3B	ORPHA:2707
HP:0000278	Retrognathia	1906	EDN1	OMIM:615706
HP:0000278	Retrognathia	26834	RNU4-2	OMIM:620851
HP:0000278	Retrognathia	4247	MGAT2	OMIM:212066
HP:0000278	Retrognathia	54496	PRMT7	ORPHA:464288
HP:0000278	Retrognathia	54496	PRMT7	OMIM:617157
HP:0000278	Retrognathia	2200	FBN1	OMIM:616914
HP:0000278	Retrognathia	2200	FBN1	ORPHA:2462
HP:0000278	Retrognathia	2200	FBN1	OMIM:154700
HP:0000278	Retrognathia	2200	FBN1	ORPHA:91387
HP:0000278	Retrognathia	23265	EXOC7	OMIM:619072
HP:0000278	Retrognathia	9653	HS2ST1	OMIM:619194
HP:0000278	Retrognathia	92482	BBIP1	ORPHA:110
HP:0000278	Retrognathia	80184	CEP290	ORPHA:110
HP:0000278	Retrognathia	11020	IFT27	ORPHA:110
HP:0000278	Retrognathia	582	BBS1	ORPHA:110
HP:0000278	Retrognathia	49855	SCAPER	ORPHA:110
HP:0000278	Retrognathia	4867	NPHP1	ORPHA:110
HP:0000278	Retrognathia	51057	WDPCP	ORPHA:110
HP:0000278	Retrognathia	132320	SCLT1	ORPHA:110
HP:0000278	Retrognathia	27241	BBS9	ORPHA:110
HP:0000278	Retrognathia	84984	CEP19	ORPHA:110
HP:0000278	Retrognathia	22954	TRIM32	ORPHA:110
HP:0000278	Retrognathia	54903	MKS1	ORPHA:110
HP:0000278	Retrognathia	79738	BBS10	ORPHA:110
HP:0000278	Retrognathia	123016	TTC8	ORPHA:110
HP:0000278	Retrognathia	26160	IFT172	ORPHA:110
HP:0000278	Retrognathia	583	BBS2	ORPHA:110
HP:0000278	Retrognathia	585	BBS4	ORPHA:110
HP:0000278	Retrognathia	8195	MKKS	ORPHA:110
HP:0000278	Retrognathia	54585	LZTFL1	ORPHA:110
HP:0000278	Retrognathia	55212	BBS7	ORPHA:110
HP:0000278	Retrognathia	166379	BBS12	ORPHA:110
HP:0000278	Retrognathia	10806	SDCCAG8	ORPHA:110
HP:0000278	Retrognathia	157657	CFAP418	ORPHA:110
HP:0000278	Retrognathia	84100	ARL6	ORPHA:110
HP:0000278	Retrognathia	129880	BBS5	ORPHA:110
HP:0000278	Retrognathia	80173	IFT74	ORPHA:110
HP:0000278	Retrognathia	23126	POGZ	OMIM:616364
HP:0000278	Retrognathia	57680	CHD8	OMIM:615032
HP:0000278	Retrognathia	51633	OTUD6B	OMIM:617452
HP:0000278	Retrognathia	51633	OTUD6B	ORPHA:505237
HP:0000278	Retrognathia	1857	DVL3	ORPHA:3107
HP:0000278	Retrognathia	7474	WNT5A	ORPHA:3107
HP:0000278	Retrognathia	7474	WNT5A	OMIM:180700
HP:0000278	Retrognathia	1855	DVL1	ORPHA:3107
HP:0000278	Retrognathia	1855	DVL1	OMIM:180700
HP:0000278	Retrognathia	2535	FZD2	ORPHA:3107
HP:0000278	Retrognathia	4613	MYCN	OMIM:620748
HP:0000278	Retrognathia	6125	RPL5	OMIM:612561
HP:0000278	Retrognathia	3481	IGF2	OMIM:616489
HP:0000278	Retrognathia	9508	ADAMTS3	ORPHA:2136
HP:0000278	Retrognathia	147372	CCBE1	ORPHA:2136
HP:0000278	Retrognathia	147372	CCBE1	OMIM:235510
HP:0000278	Retrognathia	79633	FAT4	ORPHA:2136
HP:0000278	Retrognathia	1660	DHX9	OMIM:620988
HP:0000278	Retrognathia	57282	SLC4A10	OMIM:620746
HP:0000278	Retrognathia	9841	ZBTB24	OMIM:614069
HP:0000278	Retrognathia	79770	TXNDC15	OMIM:619879
HP:0000278	Retrognathia	8364	H4C3	OMIM:619758
HP:0000278	Retrognathia	10290	SPEG	OMIM:615959
HP:0000278	Retrognathia	10290	SPEG	ORPHA:169186
HP:0000278	Retrognathia	58	ACTA1	OMIM:161800
HP:0000278	Retrognathia	2138	EYA1	ORPHA:107
HP:0000278	Retrognathia	2138	EYA1	OMIM:602588
HP:0000278	Retrognathia	147912	SIX5	ORPHA:107
HP:0000278	Retrognathia	6495	SIX1	ORPHA:107
HP:0000278	Retrognathia	79228	THOC6	ORPHA:363444
HP:0000278	Retrognathia	5159	PDGFRB	OMIM:601812
HP:0000278	Retrognathia	27086	FOXP1	ORPHA:391372
HP:0000278	Retrognathia	27086	FOXP1	OMIM:613670
HP:0000278	Retrognathia	53335	BCL11A	OMIM:617101
HP:0000278	Retrognathia	4784	NFIX	OMIM:614753
HP:0000278	Retrognathia	4784	NFIX	OMIM:602535
HP:0000278	Retrognathia	4784	NFIX	ORPHA:561
HP:0000278	Retrognathia	163175	LGI4	OMIM:617468
HP:0000278	Retrognathia	7025	NR2F1	OMIM:615722
HP:0000278	Retrognathia	54487	DGCR8	OMIM:192430
HP:0000278	Retrognathia	6899	TBX1	OMIM:192430
HP:0000278	Retrognathia	8214	DGCR6	OMIM:192430
HP:0000278	Retrognathia	8220	ESS2	OMIM:192430
HP:0000278	Retrognathia	9993	DGCR2	OMIM:192430
HP:0000278	Retrognathia	5422	POLA1	ORPHA:163976
HP:0000278	Retrognathia	5422	POLA1	OMIM:301030
HP:0000278	Retrognathia	51163	DBR1	OMIM:620510
HP:0000278	Retrognathia	388015	RTL1	ORPHA:96334
HP:0000278	Retrognathia	388015	RTL1	ORPHA:254528
HP:0000278	Retrognathia	8788	DLK1	ORPHA:96334
HP:0000278	Retrognathia	8788	DLK1	ORPHA:254528
HP:0000278	Retrognathia	55384	MEG3	ORPHA:96334
HP:0000278	Retrognathia	55384	MEG3	ORPHA:254528
HP:0000278	Retrognathia	91949	COG7	ORPHA:79333
HP:0000278	Retrognathia	91949	COG7	OMIM:608779
HP:0000278	Retrognathia	10667	FARS2	ORPHA:466722
HP:0000278	Retrognathia	11128	POLR3A	ORPHA:3455
HP:0000278	Retrognathia	23065	EMC1	ORPHA:480898
HP:0000278	Retrognathia	23065	EMC1	OMIM:616875
HP:0000278	Retrognathia	56975	FAM20C	ORPHA:1832
HP:0000278	Retrognathia	2556	GABRA3	OMIM:301091
HP:0000278	Retrognathia	3187	HNRNPH1	OMIM:620083
HP:0000278	Retrognathia	3930	LBR	OMIM:215140
HP:0000278	Retrognathia	4920	ROR2	OMIM:268310
HP:0000278	Retrognathia	5373	PMM2	ORPHA:79318
HP:0000278	Retrognathia	4677	NARS1	OMIM:619092
HP:0000278	Retrognathia	8573	CASK	ORPHA:163937
HP:0000278	Retrognathia	57479	PRR12	OMIM:619539
HP:0000278	Retrognathia	729920	CRPPA	OMIM:614643
HP:0000278	Retrognathia	4088	SMAD3	OMIM:613795
HP:0000278	Retrognathia	4088	SMAD3	ORPHA:284984
HP:0000278	Retrognathia	4088	SMAD3	ORPHA:91387
HP:0000278	Retrognathia	2146	EZH2	OMIM:277590
HP:0000278	Retrognathia	2146	EZH2	ORPHA:3447
HP:0000278	Retrognathia	55835	CPAP	OMIM:613676
HP:0000278	Retrognathia	7048	TGFBR2	OMIM:610168
HP:0000278	Retrognathia	7048	TGFBR2	ORPHA:91387
HP:0000278	Retrognathia	85459	CEP295	OMIM:620767
HP:0000278	Retrognathia	404672	GTF2H5	ORPHA:33364
HP:0000278	Retrognathia	833	CARS1	ORPHA:33364
HP:0000278	Retrognathia	2068	ERCC2	ORPHA:33364
HP:0000278	Retrognathia	2068	ERCC2	OMIM:601675
HP:0000278	Retrognathia	7737	RNF113A	ORPHA:33364
HP:0000278	Retrognathia	136647	MPLKIP	ORPHA:33364
HP:0000278	Retrognathia	136647	MPLKIP	OMIM:234050
HP:0000278	Retrognathia	6897	TARS1	ORPHA:33364
HP:0000278	Retrognathia	16	AARS1	ORPHA:33364
HP:0000278	Retrognathia	16	AARS1	OMIM:619691
HP:0000278	Retrognathia	2071	ERCC3	ORPHA:33364
HP:0000278	Retrognathia	2961	GTF2E2	ORPHA:33364
HP:0000278	Retrognathia	79791	FBXO31	OMIM:615979
HP:0000278	Retrognathia	1487	CTBP1	OMIM:617915
HP:0000278	Retrognathia	64324	NSD1	ORPHA:3447
HP:0000278	Retrognathia	23512	SUZ12	ORPHA:3447
HP:0000278	Retrognathia	641	BLM	ORPHA:125
HP:0000278	Retrognathia	10533	ATG7	OMIM:619422
HP:0000278	Retrognathia	2033	EP300	OMIM:613684
HP:0000278	Retrognathia	2033	EP300	OMIM:180849
HP:0000278	Retrognathia	867	CBL	OMIM:613563
HP:0000278	Retrognathia	7046	TGFBR1	OMIM:609192
HP:0000278	Retrognathia	7046	TGFBR1	ORPHA:91387
HP:0000278	Retrognathia	11338	U2AF2	OMIM:620535
HP:0000278	Retrognathia	51013	EXOSC1	OMIM:619304
HP:0000278	Retrognathia	1642	DDB1	OMIM:619426
HP:0000278	Retrognathia	6497	SKI	ORPHA:2462
HP:0000278	Retrognathia	5908	RAP1B	OMIM:620654
HP:0000278	Retrognathia	63895	PIEZO2	ORPHA:2461
HP:0000278	Retrognathia	5910	RAP1GDS1	OMIM:620655
HP:0000278	Retrognathia	196528	ARID2	OMIM:617808
HP:0000278	Retrognathia	27152	INTU	OMIM:617926
HP:0000278	Retrognathia	389827	MYMK	OMIM:254940
HP:0000278	Retrognathia	3720	JARID2	OMIM:620098
HP:0000278	Retrognathia	274	BIN1	ORPHA:169186
HP:0000278	Retrognathia	6261	RYR1	ORPHA:169186
HP:0000278	Retrognathia	7273	TTN	ORPHA:169186
HP:0000278	Retrognathia	8243	SMC1A	OMIM:301044
HP:0000278	Retrognathia	1281	COL3A1	OMIM:618343
HP:0000278	Retrognathia	10466	COG5	ORPHA:263487
HP:0000278	Retrognathia	23013	SPEN	OMIM:619312
HP:0000278	Retrognathia	30000	TNPO2	OMIM:619556
HP:0000278	Retrognathia	1859	DYRK1A	ORPHA:268261
HP:0000278	Retrognathia	54517	PUS7	OMIM:618342
HP:0000278	Retrognathia	1305	COL13A1	OMIM:616720
HP:0000278	Retrognathia	54973	INTS11	OMIM:620428
HP:0000278	Retrognathia	11133	KPTN	OMIM:615637
HP:0000278	Retrognathia	79650	USB1	OMIM:604173
HP:0000278	Retrognathia	55593	OTUD5	OMIM:301056
HP:0000278	Retrognathia	56945	MRPS22	OMIM:611719
HP:0000278	Retrognathia	55315	SLC29A3	OMIM:602782
HP:0000278	Retrognathia	55869	HDAC8	OMIM:300882
HP:0000278	Retrognathia	6492	SIM1	ORPHA:171829
HP:0000278	Retrognathia	23291	FBXW11	OMIM:618914
HP:0000278	Retrognathia	9662	CEP135	OMIM:614673
HP:0000278	Retrognathia	4953	ODC1	ORPHA:544488
HP:0000278	Retrognathia	30008	EFEMP2	OMIM:614437
HP:0000278	Retrognathia	5915	RARB	OMIM:615524
HP:0000278	Retrognathia	9126	SMC3	OMIM:610759
HP:0000278	Retrognathia	2187	FANCB	ORPHA:3412
HP:0000278	Retrognathia	5932	RBBP8	OMIM:251255
HP:0000278	Retrognathia	79068	FTO	OMIM:612938
HP:0000278	Retrognathia	3417	IDH1	ORPHA:99646
HP:0000278	Retrognathia	55777	MBD5	OMIM:156200
HP:0000278	Retrognathia	3039	HBA1	ORPHA:98791
HP:0000278	Retrognathia	3040	HBA2	ORPHA:98791
HP:0000278	Retrognathia	56915	EXOSC5	OMIM:619576
HP:0000278	Retrognathia	2530	FUT8	OMIM:618005
HP:0000278	Retrognathia	55906	ZC4H2	OMIM:314580
HP:0000278	Retrognathia	166378	AFG2A	ORPHA:457351
HP:0000278	Retrognathia	23511	NUP188	OMIM:618804
HP:0000278	Retrognathia	4000	LMNA	OMIM:212112
HP:0000278	Retrognathia	4000	LMNA	ORPHA:740
HP:0000278	Retrognathia	9719	ADAMTSL2	ORPHA:1901
HP:0000278	Retrognathia	9509	ADAMTS2	ORPHA:1901
HP:0000278	Retrognathia	81620	CDT1	ORPHA:2554
HP:0000278	Retrognathia	5000	ORC4	ORPHA:2554
HP:0000278	Retrognathia	23594	ORC6	ORPHA:2554
HP:0000278	Retrognathia	8318	CDC45	ORPHA:2554
HP:0000278	Retrognathia	990	CDC6	ORPHA:2554
HP:0000278	Retrognathia	4998	ORC1	ORPHA:2554
HP:0000278	Retrognathia	51053	GMNN	ORPHA:2554
HP:0000278	Retrognathia	91647	ATPAF2	OMIM:604273
HP:0000278	Retrognathia	54539	NDUFB11	ORPHA:2556
HP:0000278	Retrognathia	1349	COX7B	ORPHA:2556
HP:0000278	Retrognathia	3052	HCCS	ORPHA:2556
HP:0000278	Retrognathia	2304	FOXE1	ORPHA:1226
HP:0000278	Retrognathia	444	ASPH	OMIM:601552
HP:0000278	Retrognathia	10943	MSL3	OMIM:301032
HP:0000278	Retrognathia	372	ARCN1	OMIM:617164
HP:0000278	Retrognathia	9758	FRMPD4	OMIM:300983
HP:0000278	Retrognathia	79796	ALG9	OMIM:263210
HP:0000278	Retrognathia	57511	COG6	OMIM:614576
HP:0000278	Retrognathia	51729	WBP11	OMIM:619227
HP:0000278	Retrognathia	5116	PCNT	OMIM:210720
HP:0000278	Retrognathia	5116	PCNT	ORPHA:2637
HP:0000278	Retrognathia	54551	MAGEL2	OMIM:615547
HP:0000278	Retrognathia	139285	AMER1	ORPHA:2780
HP:0000278	Retrognathia	6638	SNRPN	ORPHA:177907
HP:0000278	Retrognathia	9244	CRLF1	OMIM:272430
HP:0000278	Retrognathia	26040	SETBP1	ORPHA:798
HP:0000278	Retrognathia	6874	TAF4	OMIM:620450
HP:0000278	Retrognathia	760	CA2	ORPHA:2785
HP:0000278	Retrognathia	60	ACTB	OMIM:243310
HP:0000278	Retrognathia	60	ACTB	ORPHA:2995
HP:0000278	Retrognathia	9321	TRIP11	ORPHA:166272
HP:0000278	Retrognathia	8943	AP3D1	OMIM:617050
HP:0000278	Retrognathia	50814	NSDHL	OMIM:300831
HP:0000278	Retrognathia	71	ACTG1	OMIM:614583
HP:0000278	Retrognathia	71	ACTG1	ORPHA:2995
HP:0000278	Retrognathia	57061	HYMAI	ORPHA:96191
HP:0000278	Retrognathia	5325	PLAGL1	ORPHA:96191
HP:0000278	Retrognathia	10526	IPO8	OMIM:619472
HP:0000278	Retrognathia	29895	MYL11	OMIM:619110
HP:0000278	Retrognathia	348180	CTU2	OMIM:618142
HP:0000278	Retrognathia	10847	SRCAP	OMIM:619595
HP:0000278	Retrognathia	340419	RSPO2	OMIM:618022
HP:0000278	Retrognathia	29927	SEC61A1	OMIM:617056
HP:0000278	Retrognathia	5530	PPP3CA	OMIM:618265
HP:0000278	Retrognathia	1387	CREBBP	OMIM:180849
HP:0000278	Retrognathia	29957	SLC25A24	OMIM:612289
HP:0000278	Retrognathia	79005	SCNM1	OMIM:620107
HP:0000278	Retrognathia	54796	BNC2	ORPHA:93110
HP:0000278	Retrognathia	25914	RTTN	ORPHA:468631
HP:0000278	Retrognathia	10269	ZMPSTE24	ORPHA:740
HP:0000278	Retrognathia	84172	POLR1B	ORPHA:861
HP:0000278	Retrognathia	9533	POLR1C	ORPHA:861
HP:0000278	Retrognathia	51082	POLR1D	ORPHA:861
HP:0000278	Retrognathia	51082	POLR1D	OMIM:613717
HP:0000278	Retrognathia	6949	TCOF1	ORPHA:861
HP:0000278	Retrognathia	4927	NUP88	OMIM:618393
HP:0000278	Retrognathia	7204	TRIO	OMIM:617061
HP:0000278	Retrognathia	1718	DHCR24	ORPHA:35107
HP:0000278	Retrognathia	2222	FDFT1	OMIM:618156
HP:0000278	Retrognathia	8567	MADD	OMIM:619004
HP:0000278	Retrognathia	374879	ZNF699	OMIM:619488
HP:0000278	Retrognathia	440138	ALG11	ORPHA:280071
HP:0000278	Retrognathia	9326	ZNHIT3	OMIM:260565
HP:0000278	Retrognathia	1806	DPYD	ORPHA:1675
HP:0000278	Retrognathia	55704	CCDC88A	OMIM:617507
HP:0000278	Retrognathia	64093	SMOC1	OMIM:206920
HP:0000278	Retrognathia	55717	WDR11	OMIM:620237
HP:0000278	Retrognathia	118924	FRA10AC1	OMIM:620113
HP:0000278	Retrognathia	6519	SLC3A1	ORPHA:163690
HP:0000278	Retrognathia	9581	PREPL	ORPHA:163690
HP:0000278	Retrognathia	22995	CEP152	OMIM:613823
HP:0000278	Retrognathia	2273	FHL1	OMIM:300280
HP:0000278	Retrognathia	7169	TPM2	OMIM:108120
HP:0000278	Retrognathia	55252	ASXL2	OMIM:617190
HP:0000278	Retrognathia	80267	EDEM3	OMIM:619493
HP:0000278	Retrognathia	342035	GLDN	OMIM:617194
HP:0000278	Retrognathia	200205	IBA57	OMIM:615330
HP:0000278	Retrognathia	2733	GLE1	OMIM:611890
HP:0000278	Retrognathia	100151683	RNU4ATAC	ORPHA:2636
HP:0000278	Retrognathia	5718	PSMD12	OMIM:617516
HP:0000278	Retrognathia	3295	HSD17B4	OMIM:261515
HP:0000278	Retrognathia	6329	SCN4A	OMIM:620369
HP:0000278	Retrognathia	9757	KMT2B	OMIM:619934
HP:0000278	Retrognathia	4683	NBN	ORPHA:647
HP:0000278	Retrognathia	23522	KAT6B	ORPHA:3047
HP:0000278	Retrognathia	26123	TCTN3	ORPHA:2753
HP:0000278	Retrognathia	26123	TCTN3	OMIM:614815
HP:0000278	Retrognathia	5286	PIK3C2A	ORPHA:557003
HP:0000278	Retrognathia	6223	RPS19	OMIM:105650
HP:0000278	Retrognathia	29071	C1GALT1C1	OMIM:301110
HP:0000278	Retrognathia	84842	HPDL	OMIM:619026
HP:0000278	Retrognathia	8516	ITGA8	OMIM:191830
HP:0000278	Retrognathia	375056	MIA3	OMIM:619269
HP:0000278	Retrognathia	18	ABAT	OMIM:613163
HP:0000278	Retrognathia	7043	TGFB3	OMIM:615582
HP:0000278	Retrognathia	7043	TGFB3	ORPHA:91387
HP:0000278	Retrognathia	22827	PUF60	OMIM:615583
HP:0000278	Retrognathia	7543	ZFX	OMIM:301118
HP:0000278	Retrognathia	523	ATP6V1A	OMIM:617403
HP:0000278	Retrognathia	25871	NEPRO	OMIM:618853
HP:0000278	Retrognathia	219844	HYLS1	ORPHA:2189
HP:0000278	Retrognathia	374654	KIF7	ORPHA:2189
HP:0000278	Retrognathia	7042	TGFB2	OMIM:614816
HP:0000278	Retrognathia	7042	TGFB2	ORPHA:91387
HP:0000278	Retrognathia	3480	IGF1R	OMIM:270450
HP:0000278	Retrognathia	4629	MYH11	ORPHA:91387
HP:0000278	Retrognathia	4015	LOX	ORPHA:91387
HP:0000278	Retrognathia	4087	SMAD2	ORPHA:91387
HP:0000278	Retrognathia	4089	SMAD4	ORPHA:91387
HP:0000278	Retrognathia	59	ACTA2	ORPHA:91387
HP:0000278	Retrognathia	5592	PRKG1	ORPHA:91387
HP:0000278	Retrognathia	2301	FOXE3	ORPHA:91387
HP:0000278	Retrognathia	4144	MAT2A	ORPHA:91387
HP:0000278	Retrognathia	23493	HEY2	ORPHA:91387
HP:0000278	Retrognathia	8076	MFAP5	ORPHA:91387
HP:0000278	Retrognathia	4638	MYLK	ORPHA:91387
HP:0000278	Retrognathia	79875	THSD4	ORPHA:91387
HP:0000278	Retrognathia	2006	ELN	ORPHA:91387
HP:0000278	Retrognathia	1278	COL1A2	ORPHA:1899
HP:0000278	Retrognathia	1277	COL1A1	ORPHA:1899
HP:0000278	Retrognathia	283450	HECTD4	OMIM:620250
HP:0000278	Retrognathia	8085	KMT2D	OMIM:147920
HP:0000278	Retrognathia	7403	KDM6A	OMIM:147920
HP:0000278	Retrognathia	2737	GLI3	ORPHA:672
HP:0000278	Retrognathia	57190	SELENON	ORPHA:324604
HP:0000278	Retrognathia	4625	MYH7	ORPHA:324604
HP:0000278	Retrognathia	6134	RPL10	OMIM:300998
HP:0000278	Retrognathia	6134	RPL10	ORPHA:459070
HP:0000278	Retrognathia	286053	NSMCE2	OMIM:617253
HP:0000278	Retrognathia	9871	SEC24D	OMIM:616294
HP:0000278	Retrognathia	79868	ALG13	OMIM:300884
HP:0000278	Retrognathia	5649	RELN	ORPHA:89844
HP:0000278	Retrognathia	10300	KATNB1	ORPHA:89844
HP:0000278	Retrognathia	54820	NDE1	ORPHA:89844
HP:0000278	Retrognathia	55790	CSGALNACT1	OMIM:618870
HP:0000278	Retrognathia	26224	FBXL3	OMIM:606220
HP:0000278	Retrognathia	84068	SLC10A7	OMIM:618363
HP:0000278	Retrognathia	8260	NAA10	OMIM:300855
HP:0000278	Retrognathia	8260	NAA10	ORPHA:276432
HP:0000278	Retrognathia	113189	CHST14	ORPHA:2953
HP:0000278	Retrognathia	113189	CHST14	OMIM:601776
HP:0000278	Retrognathia	29940	DSE	ORPHA:2953
HP:0000278	Retrognathia	9692	PRORP	OMIM:619737
HP:0000278	Retrognathia	7994	KAT6A	ORPHA:457193
HP:0000278	Retrognathia	7994	KAT6A	OMIM:616268
HP:0000278	Retrognathia	90993	CREB3L1	OMIM:616229
HP:0000278	Retrognathia	9325	TRIP4	OMIM:616866
HP:0000278	Retrognathia	1717	DHCR7	OMIM:270400
HP:0000278	Retrognathia	1501	CTNND2	ORPHA:281
HP:0000278	Retrognathia	9037	SEMA5A	ORPHA:281
HP:0000278	Retrognathia	23327	NEDD4L	OMIM:617201
HP:0000278	Retrognathia	23545	ATP6V0A2	OMIM:278250
HP:0000278	Retrognathia	9419	CRIPT	OMIM:615789
HP:0000278	Retrognathia	25942	SIN3A	OMIM:613406
HP:0000278	Retrognathia	26005	C2CD3	OMIM:615948
HP:0000278	Retrognathia	26005	C2CD3	ORPHA:434179
HP:0000278	Retrognathia	59336	PRDM13	OMIM:619909
HP:0000278	Retrognathia	9997	SCO2	OMIM:604377
HP:0000278	Retrognathia	23443	SLC35A3	OMIM:615553
HP:0000278	Retrognathia	9894	TELO2	ORPHA:488642
HP:0000278	Retrognathia	55165	CEP55	OMIM:236500
HP:0000278	Retrognathia	10682	EBP	OMIM:300960
HP:0000278	Retrognathia	23556	PIGN	ORPHA:280633
HP:0000278	Retrognathia	2571	GAD1	OMIM:619124
HP:0000278	Retrognathia	6872	TAF1	OMIM:300966
HP:0000278	Retrognathia	55617	TASP1	OMIM:618950
HP:0000278	Retrognathia	51305	KCNK9	OMIM:612292
HP:0000278	Retrognathia	5075	PAX1	OMIM:615560
HP:0000278	Retrognathia	8481	OFD1	OMIM:311200
HP:0000278	Retrognathia	60482	SLC5A7	ORPHA:98914
HP:0000278	Retrognathia	4649	MYO9A	ORPHA:98914
HP:0000278	Retrognathia	1103	CHAT	ORPHA:98914
HP:0000278	Retrognathia	6576	SLC25A1	ORPHA:98914
HP:0000278	Retrognathia	6843	VAMP1	ORPHA:98914
HP:0000278	Retrognathia	375790	AGRN	ORPHA:98914
HP:0000278	Retrognathia	127833	SYT2	ORPHA:98914
HP:0000278	Retrognathia	6572	SLC18A3	ORPHA:98914
HP:0000278	Retrognathia	6616	SNAP25	ORPHA:98914
HP:0000278	Retrognathia	100506658	OCLN	OMIM:251290
HP:0000278	Retrognathia	124583	CANT1	OMIM:251450
HP:0000278	Retrognathia	7846	TUBA1A	ORPHA:171680
HP:0000278	Retrognathia	153241	CEP120	OMIM:616300
HP:0000278	Retrognathia	8565	YARS1	OMIM:619418
HP:0000278	Retrognathia	8815	BANF1	OMIM:614008
HP:0000278	Retrognathia	9469	CHST3	OMIM:245600
HP:0000278	Retrognathia	26229	B3GAT3	OMIM:245600
HP:0000278	Retrognathia	1280	COL2A1	OMIM:200610
HP:0000278	Retrognathia	9775	EIF4A3	OMIM:268305
HP:0000278	Retrognathia	26173	INTS1	OMIM:618571
HP:0000278	Retrognathia	10664	CTCF	OMIM:615502
HP:0000278	Retrognathia	90952	ESAM	OMIM:620371
HP:0002955	Granulomatosis	4688	NCF2	OMIM:233710
HP:0002955	Granulomatosis	1536	CYBB	OMIM:306400
HP:0002955	Granulomatosis	653361	NCF1	OMIM:233700
HP:0002955	Granulomatosis	1535	CYBA	OMIM:233690
HP:0002955	Granulomatosis	1493	CTLA4	ORPHA:900
HP:0002955	Granulomatosis	26191	PTPN22	ORPHA:900
HP:0002955	Granulomatosis	3115	HLA-DPB1	ORPHA:900
HP:0002955	Granulomatosis	5657	PRTN3	ORPHA:900
HP:0002955	Granulomatosis	3113	HLA-DPA1	ORPHA:900
HP:0002955	Granulomatosis	427	ASAH1	OMIM:228000
HP:0002958	Immune dysregulation	27040	LAT	OMIM:617514
HP:0002958	Immune dysregulation	5551	PRF1	ORPHA:540
HP:0002958	Immune dysregulation	8676	STX11	ORPHA:540
HP:0002958	Immune dysregulation	201294	UNC13D	ORPHA:540
HP:0002958	Immune dysregulation	6813	STXBP2	ORPHA:540
HP:0002958	Immune dysregulation	5336	PLCG2	OMIM:614878
HP:0002958	Immune dysregulation	3953	LEPR	OMIM:614963
HP:0002958	Immune dysregulation	6772	STAT1	ORPHA:391487
HP:0002958	Immune dysregulation	6772	STAT1	OMIM:614162
HP:0002958	Immune dysregulation	54	ACP5	OMIM:607944
HP:0002958	Immune dysregulation	50943	FOXP3	OMIM:304790
HP:0002959	Impaired Ig class switch recombination	57379	AICDA	OMIM:605258
HP:0002959	Impaired Ig class switch recombination	7374	UNG	OMIM:608106
HP:0002959	Impaired Ig class switch recombination	958	CD40	OMIM:606843
HP:0002959	Impaired Ig class switch recombination	959	CD40LG	OMIM:308230
HP:4000105	Abnormal four chamber view of the fetal heart	3190	HNRNPK	OMIM:616580
HP:0002960	Autoimmunity	6909	TBX2	OMIM:618223
HP:0002960	Autoimmunity	10068	IL18BP	OMIM:618549
HP:0002960	Autoimmunity	5336	PLCG2	OMIM:614468
HP:0002960	Autoimmunity	5428	POLG	ORPHA:94125
HP:0002960	Autoimmunity	27022	FOXD3	OMIM:607836
HP:0002960	Autoimmunity	23040	MYT1L	ORPHA:647799
HP:0002960	Autoimmunity	716	C1S	OMIM:613783
HP:0002960	Autoimmunity	51816	ADA2	OMIM:615688
HP:0002960	Autoimmunity	10483	SEC23B	OMIM:616858
HP:0002960	Autoimmunity	1027	CDKN1B	OMIM:610755
HP:0002960	Autoimmunity	1188	CLCNKB	ORPHA:358
HP:0002960	Autoimmunity	6559	SLC12A3	ORPHA:358
HP:0002960	Autoimmunity	6772	STAT1	ORPHA:391487
HP:0002960	Autoimmunity	6772	STAT1	OMIM:614162
HP:0002960	Autoimmunity	4683	NBN	OMIM:251260
HP:0002960	Autoimmunity	4683	NBN	ORPHA:647
HP:0002960	Autoimmunity	987	LRBA	OMIM:614700
HP:0002960	Autoimmunity	6789	STK4	OMIM:614868
HP:0002960	Autoimmunity	22861	NLRP1	OMIM:617388
HP:0002960	Autoimmunity	4790	NFKB1	OMIM:616576
HP:0002960	Autoimmunity	5294	PIK3CG	OMIM:619802
HP:0002960	Autoimmunity	917	CD3G	OMIM:615607
HP:0002960	Autoimmunity	868	CBLB	OMIM:620430
HP:0002960	Autoimmunity	139818	DOCK11	OMIM:301109
HP:0002960	Autoimmunity	3937	LCP2	OMIM:619374
HP:0002960	Autoimmunity	50619	DEF6	OMIM:619573
HP:0002960	Autoimmunity	6786	STIM1	OMIM:612783
HP:0002960	Autoimmunity	4733	DRG1	OMIM:620641
HP:0002960	Autoimmunity	10092	ARPC5	OMIM:620565
HP:0002960	Autoimmunity	51311	TLR8	OMIM:301078
HP:0002960	Autoimmunity	56984	PSMG2	OMIM:619183
HP:0002960	Autoimmunity	10125	RASGRP1	OMIM:618534
HP:0002960	Autoimmunity	2215	FCGR3B	ORPHA:464370
HP:0002960	Autoimmunity	54440	SASH3	OMIM:301082
HP:0002960	Autoimmunity	4791	NFKB2	ORPHA:293978
HP:0002960	Autoimmunity	4791	NFKB2	ORPHA:1572
HP:0002960	Autoimmunity	975	CD81	OMIM:613496
HP:0002960	Autoimmunity	975	CD81	ORPHA:1572
HP:0002960	Autoimmunity	51284	TLR7	OMIM:301080
HP:0002960	Autoimmunity	56259	CTNNBL1	OMIM:619846
HP:0002960	Autoimmunity	6609	SMPD1	ORPHA:77293
HP:0002960	Autoimmunity	84061	MAGT1	OMIM:300853
HP:0002960	Autoimmunity	8651	SOCS1	OMIM:619375
HP:0002960	Autoimmunity	27040	LAT	OMIM:617514
HP:0002960	Autoimmunity	2581	GALC	OMIM:245200
HP:0002960	Autoimmunity	8742	TNFSF12	ORPHA:1572
HP:0002960	Autoimmunity	931	MS4A1	ORPHA:1572
HP:0002960	Autoimmunity	359948	IRF2BP2	ORPHA:1572
HP:0002960	Autoimmunity	9138	ARHGEF1	OMIM:618459
HP:0002960	Autoimmunity	8085	KMT2D	OMIM:147920
HP:0002960	Autoimmunity	7403	KDM6A	OMIM:147920
HP:0002960	Autoimmunity	720	C4A	OMIM:614380
HP:0002960	Autoimmunity	731	C8A	OMIM:613790
HP:0002960	Autoimmunity	10747	MASP2	OMIM:613791
HP:0002960	Autoimmunity	6696	SPP1	ORPHA:93552
HP:0002960	Autoimmunity	6303	SAT1	ORPHA:93552
HP:0002960	Autoimmunity	3654	IRAK1	ORPHA:93552
HP:0002960	Autoimmunity	718	C3	OMIM:613779
HP:0002960	Autoimmunity	717	C2	OMIM:217000
HP:0002960	Autoimmunity	1080	CFTR	ORPHA:498359
HP:0002960	Autoimmunity	51428	DDX41	OMIM:616871
HP:0002960	Autoimmunity	2212	FCGR2A	OMIM:152700
HP:0002960	Autoimmunity	2213	FCGR2B	OMIM:152700
HP:0002960	Autoimmunity	1773	DNASE1	OMIM:152700
HP:0002960	Autoimmunity	5184	PEPD	OMIM:170100
HP:0002960	Autoimmunity	10501	SEMA6B	OMIM:618876
HP:0002960	Autoimmunity	29775	CARD10	OMIM:619632
HP:0002960	Autoimmunity	340061	STING1	OMIM:615934
HP:0002960	Autoimmunity	3586	IL10	OMIM:180300
HP:0002960	Autoimmunity	6583	SLC22A4	OMIM:180300
HP:0002960	Autoimmunity	51744	CD244	OMIM:180300
HP:0002960	Autoimmunity	4795	NFKBIL1	OMIM:180300
HP:0002960	Autoimmunity	713	C1QB	OMIM:620321
HP:0002960	Autoimmunity	3106	HLA-B	OMIM:106300
HP:0002960	Autoimmunity	8737	RIPK1	OMIM:618852
HP:0002960	Autoimmunity	8838	CCN6	ORPHA:1159
HP:0002960	Autoimmunity	79415	CYBC1	OMIM:618935
HP:0002960	Autoimmunity	3459	IFNGR1	OMIM:209950
HP:0002960	Autoimmunity	4067	LYN	OMIM:620376
HP:0002960	Autoimmunity	100	ADA	ORPHA:277
HP:0002960	Autoimmunity	100	ADA	ORPHA:39041
HP:0002960	Autoimmunity	6399	TRAPPC2	ORPHA:93284
HP:0002960	Autoimmunity	355	FAS	ORPHA:3261
HP:0002960	Autoimmunity	356	FASLG	ORPHA:3261
HP:0002960	Autoimmunity	843	CASP10	ORPHA:3261
HP:0002960	Autoimmunity	64421	DCLRE1C	ORPHA:275
HP:0002960	Autoimmunity	64421	DCLRE1C	ORPHA:39041
HP:0002960	Autoimmunity	144811	LACC1	ORPHA:85414
HP:0002960	Autoimmunity	4282	MIF	ORPHA:85414
HP:0002960	Autoimmunity	3123	HLA-DRB1	ORPHA:85414
HP:0002960	Autoimmunity	3123	HLA-DRB1	ORPHA:703
HP:0002960	Autoimmunity	3123	HLA-DRB1	ORPHA:220402
HP:0002960	Autoimmunity	3123	HLA-DRB1	ORPHA:220393
HP:0002960	Autoimmunity	3569	IL6	ORPHA:85414
HP:0002960	Autoimmunity	3569	IL6	OMIM:222100
HP:0002960	Autoimmunity	6775	STAT4	ORPHA:85410
HP:0002960	Autoimmunity	3560	IL2RB	ORPHA:85410
HP:0002960	Autoimmunity	3560	IL2RB	OMIM:618495
HP:0002960	Autoimmunity	79722	ANKRD55	ORPHA:85410
HP:0002960	Autoimmunity	26191	PTPN22	ORPHA:85410
HP:0002960	Autoimmunity	26191	PTPN22	ORPHA:900
HP:0002960	Autoimmunity	26191	PTPN22	OMIM:222100
HP:0002960	Autoimmunity	919	CD247	ORPHA:85410
HP:0002960	Autoimmunity	3559	IL2RA	ORPHA:85410
HP:0002960	Autoimmunity	5771	PTPN2	ORPHA:85410
HP:0002960	Autoimmunity	23592	LEMD3	ORPHA:166119
HP:0002960	Autoimmunity	5238	PGM3	ORPHA:443811
HP:0002960	Autoimmunity	3932	LCK	OMIM:615758
HP:0002960	Autoimmunity	3119	HLA-DQB1	ORPHA:703
HP:0002960	Autoimmunity	1776	DNASE1L3	ORPHA:36412
HP:0002960	Autoimmunity	7174	TPP2	ORPHA:444463
HP:0002960	Autoimmunity	1235	CCR6	ORPHA:220402
HP:0002960	Autoimmunity	1235	CCR6	ORPHA:220393
HP:0002960	Autoimmunity	79932	KIAA0319L	ORPHA:220402
HP:0002960	Autoimmunity	1490	CCN2	ORPHA:220402
HP:0002960	Autoimmunity	1490	CCN2	ORPHA:220393
HP:0002960	Autoimmunity	3663	IRF5	ORPHA:220402
HP:0002960	Autoimmunity	3663	IRF5	ORPHA:186
HP:0002960	Autoimmunity	3663	IRF5	ORPHA:220393
HP:0002960	Autoimmunity	857	CAV1	ORPHA:220402
HP:0002960	Autoimmunity	857	CAV1	ORPHA:220393
HP:0002960	Autoimmunity	55806	HR	ORPHA:701
HP:0002960	Autoimmunity	4522	MTHFD1	OMIM:617780
HP:0002960	Autoimmunity	10216	PRG4	ORPHA:2848
HP:0002960	Autoimmunity	8456	FOXN1	ORPHA:83471
HP:0002960	Autoimmunity	84690	SPATA22	OMIM:621002
HP:0002960	Autoimmunity	79840	NHEJ1	ORPHA:169079
HP:0002960	Autoimmunity	5994	RFXAP	ORPHA:572
HP:0002960	Autoimmunity	4261	CIITA	ORPHA:572
HP:0002960	Autoimmunity	5993	RFX5	ORPHA:572
HP:0002960	Autoimmunity	8625	RFXANK	ORPHA:572
HP:0002960	Autoimmunity	54	ACP5	OMIM:607944
HP:0002960	Autoimmunity	54	ACP5	ORPHA:1855
HP:0002960	Autoimmunity	115650	TNFRSF13C	OMIM:240500
HP:0002960	Autoimmunity	29851	ICOS	OMIM:240500
HP:0002960	Autoimmunity	930	CD19	OMIM:240500
HP:0002960	Autoimmunity	23495	TNFRSF13B	OMIM:240500
HP:0002960	Autoimmunity	23495	TNFRSF13B	OMIM:609529
HP:0002960	Autoimmunity	1380	CR2	OMIM:240500
HP:0002960	Autoimmunity	2859	GPR35	ORPHA:171
HP:0002960	Autoimmunity	10507	SEMA4D	ORPHA:171
HP:0002960	Autoimmunity	4485	MST1	ORPHA:171
HP:0002960	Autoimmunity	6925	TCF4	ORPHA:171
HP:0002960	Autoimmunity	2332	FMR1	ORPHA:449291
HP:0002960	Autoimmunity	5896	RAG1	ORPHA:331206
HP:0002960	Autoimmunity	5896	RAG1	ORPHA:39041
HP:0002960	Autoimmunity	5896	RAG1	ORPHA:231154
HP:0002960	Autoimmunity	5897	RAG2	ORPHA:331206
HP:0002960	Autoimmunity	5897	RAG2	ORPHA:39041
HP:0002960	Autoimmunity	84823	LMNB2	ORPHA:79087
HP:0002960	Autoimmunity	1312	COMT	ORPHA:567
HP:0002960	Autoimmunity	221037	JMJD1C	ORPHA:567
HP:0002960	Autoimmunity	2812	GP1BB	ORPHA:567
HP:0002960	Autoimmunity	6239	RREB1	ORPHA:567
HP:0002960	Autoimmunity	6899	TBX1	ORPHA:567
HP:0002960	Autoimmunity	7290	HIRA	ORPHA:567
HP:0002960	Autoimmunity	9632	SEC24C	ORPHA:567
HP:0002960	Autoimmunity	7353	UFD1	ORPHA:567
HP:0002960	Autoimmunity	421	ARVCF	ORPHA:567
HP:0002960	Autoimmunity	29071	C1GALT1C1	OMIM:300622
HP:0002960	Autoimmunity	28755	TRAC	OMIM:615387
HP:0002960	Autoimmunity	8517	IKBKG	ORPHA:98813
HP:0002960	Autoimmunity	4792	NFKBIA	ORPHA:98813
HP:0002960	Autoimmunity	57217	TTC7A	OMIM:243150
HP:0002960	Autoimmunity	57217	TTC7A	ORPHA:436252
HP:0002960	Autoimmunity	3702	ITK	OMIM:613011
HP:0002960	Autoimmunity	6774	STAT3	OMIM:615952
HP:0002960	Autoimmunity	5295	PIK3R1	OMIM:616005
HP:0002960	Autoimmunity	5295	PIK3R1	ORPHA:397596
HP:0002960	Autoimmunity	712	C1QA	OMIM:613652
HP:0002960	Autoimmunity	5580	PRKCD	OMIM:615559
HP:0002960	Autoimmunity	2321	FLT1	ORPHA:275555
HP:0002960	Autoimmunity	219736	STOX1	ORPHA:275555
HP:0002960	Autoimmunity	10699	CORIN	ORPHA:275555
HP:0002960	Autoimmunity	7454	WAS	ORPHA:906
HP:0002960	Autoimmunity	7456	WIPF1	ORPHA:906
HP:0002960	Autoimmunity	1493	CTLA4	ORPHA:900
HP:0002960	Autoimmunity	3115	HLA-DPB1	ORPHA:900
HP:0002960	Autoimmunity	5657	PRTN3	ORPHA:900
HP:0002960	Autoimmunity	3113	HLA-DPA1	ORPHA:900
HP:0002960	Autoimmunity	6023	RMRP	ORPHA:39041
HP:0002960	Autoimmunity	55636	CHD7	ORPHA:39041
HP:0002960	Autoimmunity	3981	LIG4	ORPHA:39041
HP:0002960	Autoimmunity	3575	IL7R	ORPHA:39041
HP:0002960	Autoimmunity	3561	IL2RG	ORPHA:39041
HP:0002960	Autoimmunity	715	C1R	OMIM:130080
HP:0002960	Autoimmunity	3594	IL12RB1	ORPHA:186
HP:0002960	Autoimmunity	23534	TNPO3	ORPHA:186
HP:0002960	Autoimmunity	3592	IL12A	ORPHA:186
HP:0002960	Autoimmunity	6689	SPIB	ORPHA:186
HP:0002960	Autoimmunity	5450	POU2AF1	ORPHA:186
HP:0002960	Autoimmunity	9966	TNFSF15	ORPHA:186
HP:0002960	Autoimmunity	79258	MMEL1	ORPHA:186
HP:0002960	Autoimmunity	84868	HAVCR2	OMIM:618398
HP:0002960	Autoimmunity	4893	NRAS	OMIM:614470
HP:0002960	Autoimmunity	3845	KRAS	OMIM:614470
HP:0002960	Autoimmunity	5728	PTEN	ORPHA:397596
HP:0002960	Autoimmunity	5293	PIK3CD	ORPHA:397596
HP:0002960	Autoimmunity	83737	ITCH	OMIM:613385
HP:0002960	Autoimmunity	83737	ITCH	ORPHA:228426
HP:0002960	Autoimmunity	5205	ATP8B1	ORPHA:69665
HP:0002960	Autoimmunity	8647	ABCB11	ORPHA:69665
HP:0002960	Autoimmunity	5244	ABCB4	ORPHA:69665
HP:0002960	Autoimmunity	9971	NR1H4	ORPHA:69665
HP:0002960	Autoimmunity	50485	SMARCAL1	ORPHA:1830
HP:0002960	Autoimmunity	326	AIRE	ORPHA:3453
HP:0002960	Autoimmunity	695	BTK	ORPHA:47
HP:0002960	Autoimmunity	50943	FOXP3	ORPHA:37042
HP:0002960	Autoimmunity	4087	SMAD2	OMIM:619656
HP:0002960	Autoimmunity	5297	PI4KA	ORPHA:436252
HP:0002960	Autoimmunity	5078	PAX4	OMIM:612227
HP:0002960	Autoimmunity	208	AKT2	ORPHA:293964
HP:0002960	Autoimmunity	3514	IGKC	ORPHA:183675
HP:0002960	Autoimmunity	3501	IGHG2	ORPHA:183675
HP:0002960	Autoimmunity	710	SERPING1	OMIM:106100
HP:0002960	Autoimmunity	29110	TBK1	OMIM:620880
HP:0002960	Autoimmunity	4860	PNP	ORPHA:760
HP:0002960	Autoimmunity	56246	MRAP	ORPHA:361
HP:0002960	Autoimmunity	6770	STAR	ORPHA:361
HP:0002960	Autoimmunity	4158	MC2R	ORPHA:361
HP:0002960	Autoimmunity	23530	NNT	ORPHA:361
HP:0002960	Autoimmunity	10587	TXNRD2	ORPHA:361
HP:0002960	Autoimmunity	81704	DOCK8	OMIM:243700
HP:0002960	Autoimmunity	3710	ITPR3	OMIM:222100
HP:0002960	Autoimmunity	6927	HNF1A	OMIM:222100
HP:0002960	Autoimmunity	7535	ZAP70	OMIM:617006
HP:0002960	Autoimmunity	10535	RNASEH2A	ORPHA:51
HP:0002960	Autoimmunity	84153	RNASEH2C	ORPHA:51
HP:0002960	Autoimmunity	25939	SAMHD1	ORPHA:51
HP:0002960	Autoimmunity	79621	RNASEH2B	ORPHA:51
HP:0002960	Autoimmunity	103	ADAR	ORPHA:51
HP:0002960	Autoimmunity	11277	TREX1	ORPHA:51
HP:0002960	Autoimmunity	100147744	RNU7-1	ORPHA:51
HP:0002960	Autoimmunity	134353	LSM11	ORPHA:51
HP:0002960	Autoimmunity	64135	IFIH1	ORPHA:51
HP:0002960	Autoimmunity	1288	COL4A6	ORPHA:1018
HP:0002960	Autoimmunity	1287	COL4A5	ORPHA:1018
HP:0002960	Autoimmunity	10312	TCIRG1	ORPHA:486
HP:0002960	Autoimmunity	6728	SRP19	ORPHA:486
HP:0002960	Autoimmunity	1991	ELANE	ORPHA:486
HP:0002960	Autoimmunity	2672	GFI1	ORPHA:486
HP:0002960	Autoimmunity	81570	CLPB	ORPHA:486
HP:0002960	Autoimmunity	23308	ICOSLG	OMIM:620825
HP:0002960	Autoimmunity	3684	ITGAM	ORPHA:536
HP:0002960	Autoimmunity	221895	JAZF1	ORPHA:536
HP:0002960	Autoimmunity	7292	TNFSF4	ORPHA:536
HP:0002960	Autoimmunity	55024	BANK1	ORPHA:536
HP:0002960	Autoimmunity	3500	IGHG1	ORPHA:536
HP:0002960	Autoimmunity	5133	PDCD1	ORPHA:536
HP:0002960	Autoimmunity	2113	ETS1	ORPHA:536
HP:0002960	Autoimmunity	10318	TNIP1	ORPHA:536
HP:0002960	Autoimmunity	7332	UBE2L3	ORPHA:536
HP:0002960	Autoimmunity	4204	MECP2	ORPHA:536
HP:0002960	Autoimmunity	721	C4B	ORPHA:536
HP:0002960	Autoimmunity	54899	PXK	ORPHA:536
HP:0002960	Autoimmunity	7128	TNFAIP3	ORPHA:536
HP:0002960	Autoimmunity	9056	SLC7A7	ORPHA:470
HP:0002960	Autoimmunity	1410	CRYAB	OMIM:608810
HP:0002960	Autoimmunity	1314	COPA	OMIM:616414
HP:0002960	Autoimmunity	5335	PLCG1	OMIM:620514
HP:0002960	Autoimmunity	51371	POMP	OMIM:618048
HP:0002960	Autoimmunity	3930	LBR	OMIM:613471
HP:0002960	Autoimmunity	4358	MPV17	OMIM:256810
HP:0002960	Autoimmunity	129607	CMPK2	OMIM:621018
HP:0002960	Autoimmunity	714	C1QC	OMIM:620322
HP:0002960	Autoimmunity	10095	ARPC1B	OMIM:617718
HP:0002960	Autoimmunity	4313	MMP2	OMIM:259600
HP:0002960	Autoimmunity	440275	EIF2AK4	ORPHA:199241
HP:0002960	Autoimmunity	2582	GALE	OMIM:620776
HP:0002960	Autoimmunity	9103	FCGR2C	ORPHA:3002
HP:0002960	Autoimmunity	1854	DUT	OMIM:620044
HP:0002960	Autoimmunity	7068	THRB	ORPHA:566243
HP:0002960	Autoimmunity	7068	THRB	OMIM:274300
HP:0002960	Autoimmunity	169792	GLIS3	OMIM:610199
HP:0002960	Autoimmunity	3767	KCNJ11	ORPHA:552
HP:0002960	Autoimmunity	3767	KCNJ11	ORPHA:79134
HP:0002960	Autoimmunity	3767	KCNJ11	ORPHA:99885
HP:0002960	Autoimmunity	3767	KCNJ11	ORPHA:99886
HP:0002960	Autoimmunity	8462	KLF11	ORPHA:552
HP:0002960	Autoimmunity	2645	GCK	ORPHA:552
HP:0002960	Autoimmunity	2645	GCK	ORPHA:99885
HP:0002960	Autoimmunity	26060	APPL1	ORPHA:552
HP:0002960	Autoimmunity	640	BLK	ORPHA:552
HP:0002960	Autoimmunity	1056	CEL	ORPHA:552
HP:0002960	Autoimmunity	4760	NEUROD1	ORPHA:552
HP:0002960	Autoimmunity	3651	PDX1	ORPHA:552
HP:0002960	Autoimmunity	3651	PDX1	ORPHA:99885
HP:0002960	Autoimmunity	6833	ABCC8	ORPHA:552
HP:0002960	Autoimmunity	6833	ABCC8	ORPHA:79134
HP:0002960	Autoimmunity	6833	ABCC8	ORPHA:99885
HP:0002960	Autoimmunity	6833	ABCC8	ORPHA:99886
HP:0002960	Autoimmunity	3172	HNF4A	ORPHA:552
HP:0002960	Autoimmunity	3630	INS	ORPHA:552
HP:0002960	Autoimmunity	3630	INS	ORPHA:99885
HP:0002960	Autoimmunity	7253	TSHR	ORPHA:99819
HP:0002960	Autoimmunity	7253	TSHR	ORPHA:424
HP:0002960	Autoimmunity	7253	TSHR	ORPHA:90673
HP:0002960	Autoimmunity	811	CALR	ORPHA:824
HP:0002960	Autoimmunity	4352	MPL	ORPHA:824
HP:0002960	Autoimmunity	3717	JAK2	ORPHA:824
HP:0002960	Autoimmunity	54790	TET2	ORPHA:824
HP:0002960	Autoimmunity	2778	GNAS	ORPHA:94089
HP:0002960	Autoimmunity	2778	GNAS	ORPHA:79443
HP:0002960	Autoimmunity	2778	GNAS	ORPHA:79444
HP:0002960	Autoimmunity	8675	STX16	ORPHA:94089
HP:0002960	Autoimmunity	7317	UBA1	OMIM:301054
HP:0002960	Autoimmunity	81858	SHARPIN	OMIM:620795
HP:0002960	Autoimmunity	79731	NARS2	ORPHA:79134
HP:0002960	Autoimmunity	346171	ZFP57	ORPHA:99886
HP:0002960	Autoimmunity	57061	HYMAI	ORPHA:99886
HP:0002960	Autoimmunity	5325	PLAGL1	ORPHA:99886
HP:0002960	Autoimmunity	7252	TSHB	ORPHA:90674
HP:0002960	Autoimmunity	3458	IFNG	ORPHA:88
HP:0002960	Autoimmunity	5551	PRF1	ORPHA:88
HP:0002960	Autoimmunity	7012	TERC	ORPHA:88
HP:0002960	Autoimmunity	51119	SBDS	ORPHA:88
HP:0002960	Autoimmunity	7015	TERT	ORPHA:88
HP:0002960	Autoimmunity	1439	CSF2RB	ORPHA:264675
HP:0002960	Autoimmunity	1438	CSF2RA	ORPHA:264675
HP:0002960	Autoimmunity	7201	TRHR	ORPHA:99832
HP:0002960	Autoimmunity	8772	FADD	ORPHA:306550
HP:0002960	Autoimmunity	2903	GRIN2A	ORPHA:98818
HP:0002960	Autoimmunity	5339	PLEC	ORPHA:254361
HP:0002960	Autoimmunity	1134	CHRNA1	OMIM:601462
HP:0002960	Autoimmunity	1134	CHRNA1	OMIM:608930
HP:0002960	Autoimmunity	6329	SCN4A	OMIM:614198
HP:0002960	Autoimmunity	5913	RAPSN	OMIM:616326
HP:0002960	Autoimmunity	199857	ALG14	OMIM:616227
HP:0002960	Autoimmunity	1103	CHAT	OMIM:254210
HP:0002960	Autoimmunity	1103	CHAT	ORPHA:98914
HP:0002960	Autoimmunity	1140	CHRNB1	OMIM:616314
HP:0002960	Autoimmunity	1140	CHRNB1	OMIM:616313
HP:0002960	Autoimmunity	1145	CHRNE	OMIM:616324
HP:0002960	Autoimmunity	1144	CHRND	OMIM:616323
HP:0002960	Autoimmunity	9581	PREPL	OMIM:616224
HP:0002960	Autoimmunity	60482	SLC5A7	ORPHA:98914
HP:0002960	Autoimmunity	4649	MYO9A	ORPHA:98914
HP:0002960	Autoimmunity	1305	COL13A1	ORPHA:98914
HP:0002960	Autoimmunity	6576	SLC25A1	ORPHA:98914
HP:0002960	Autoimmunity	6843	VAMP1	ORPHA:98914
HP:0002960	Autoimmunity	375790	AGRN	ORPHA:98914
HP:0002960	Autoimmunity	127833	SYT2	ORPHA:98914
HP:0002960	Autoimmunity	6572	SLC18A3	ORPHA:98914
HP:0002960	Autoimmunity	6616	SNAP25	ORPHA:98914
HP:0002960	Autoimmunity	8292	COLQ	OMIM:603034
HP:0002960	Autoimmunity	285489	DOK7	OMIM:254300
HP:0002960	Autoimmunity	4593	MUSK	OMIM:616325
HP:0002960	Autoimmunity	5265	SERPINA1	ORPHA:60
HP:0002960	Autoimmunity	60468	BACH2	OMIM:618394
HP:0002960	Autoimmunity	6891	TAP2	OMIM:620813
HP:0002960	Autoimmunity	6005	RHAG	ORPHA:71275
HP:0002960	Autoimmunity	6006	RHCE	ORPHA:71275
HP:0002960	Autoimmunity	6007	RHD	ORPHA:71275
HP:0002960	Autoimmunity	1499	CTNNB1	ORPHA:91414
HP:0002960	Autoimmunity	10020	GNE	OMIM:620757
HP:0002960	Autoimmunity	5611	DNAJC3	OMIM:616192
HP:0002960	Autoimmunity	2304	FOXE1	OMIM:241850
HP:0002960	Autoimmunity	60	ACTB	OMIM:620475
HP:0002960	Autoimmunity	93587	TRMT10A	OMIM:616033
HP:0002961	Dysgammaglobulinemia	4683	NBN	OMIM:251260
HP:0002961	Dysgammaglobulinemia	959	CD40LG	OMIM:308230
HP:0002961	Dysgammaglobulinemia	8517	IKBKG	OMIM:300291
HP:0002961	Dysgammaglobulinemia	4068	SH2D1A	OMIM:308240
HP:0002961	Dysgammaglobulinemia	331	XIAP	OMIM:308240
HP:0003496	Increased circulating IgM level	2859	GPR35	ORPHA:171
HP:0003496	Increased circulating IgM level	10507	SEMA4D	ORPHA:171
HP:0003496	Increased circulating IgM level	4485	MST1	ORPHA:171
HP:0003496	Increased circulating IgM level	6925	TCF4	ORPHA:171
HP:0003496	Increased circulating IgM level	4615	MYD88	OMIM:153600
HP:0003496	Increased circulating IgM level	200942	KLHDC8B	OMIM:236000
HP:0003496	Increased circulating IgM level	1789	DNMT3B	OMIM:242860
HP:0003496	Increased circulating IgM level	65082	VPS33A	ORPHA:505248
HP:0003496	Increased circulating IgM level	65082	VPS33A	OMIM:617303
HP:0003496	Increased circulating IgM level	90268	OTULIN	OMIM:617099
HP:0003496	Increased circulating IgM level	919	CD247	OMIM:610163
HP:0003496	Increased circulating IgM level	5295	PIK3R1	OMIM:616005
HP:0003496	Increased circulating IgM level	5295	PIK3R1	ORPHA:397596
HP:0003496	Increased circulating IgM level	5293	PIK3CD	OMIM:615513
HP:0003496	Increased circulating IgM level	5293	PIK3CD	ORPHA:397596
HP:0003496	Increased circulating IgM level	5238	PGM3	OMIM:615816
HP:0003496	Increased circulating IgM level	959	CD40LG	OMIM:308230
HP:0003496	Increased circulating IgM level	8517	IKBKG	OMIM:300291
HP:0003496	Increased circulating IgM level	8517	IKBKG	ORPHA:98813
HP:0003496	Increased circulating IgM level	57379	AICDA	OMIM:605258
HP:0003496	Increased circulating IgM level	7374	UNG	OMIM:608106
HP:0003496	Increased circulating IgM level	958	CD40	OMIM:606843
HP:0003496	Increased circulating IgM level	3594	IL12RB1	ORPHA:186
HP:0003496	Increased circulating IgM level	23534	TNPO3	ORPHA:186
HP:0003496	Increased circulating IgM level	3592	IL12A	ORPHA:186
HP:0003496	Increased circulating IgM level	6689	SPIB	ORPHA:186
HP:0003496	Increased circulating IgM level	5450	POU2AF1	ORPHA:186
HP:0003496	Increased circulating IgM level	9966	TNFSF15	ORPHA:186
HP:0003496	Increased circulating IgM level	79258	MMEL1	ORPHA:186
HP:0003496	Increased circulating IgM level	3663	IRF5	ORPHA:186
HP:0003496	Increased circulating IgM level	56160	NSMCE3	OMIM:617241
HP:0003496	Increased circulating IgM level	5728	PTEN	ORPHA:397596
HP:0003496	Increased circulating IgM level	7174	TPP2	OMIM:619220
HP:0003496	Increased circulating IgM level	356	FASLG	OMIM:601859
HP:0003496	Increased circulating IgM level	355	FAS	OMIM:601859
HP:0003496	Increased circulating IgM level	3459	IFNGR1	OMIM:209950
HP:0003496	Increased circulating IgM level	843	CASP10	OMIM:603909
HP:0003496	Increased circulating IgM level	10125	RASGRP1	OMIM:618534
HP:0003496	Increased circulating IgM level	84888	SPPL2A	OMIM:619549
HP:0003496	Increased circulating IgM level	4792	NFKBIA	ORPHA:98813
HP:0003496	Increased circulating IgM level	4068	SH2D1A	OMIM:308240
HP:0003496	Increased circulating IgM level	331	XIAP	OMIM:308240
HP:0002963	Abnormal delayed hypersensitivity skin test	7454	WAS	OMIM:301000
HP:0002963	Abnormal delayed hypersensitivity skin test	4261	CIITA	OMIM:209920
HP:0002963	Abnormal delayed hypersensitivity skin test	57724	EPG5	OMIM:242840
HP:0002963	Abnormal delayed hypersensitivity skin test	3718	JAK3	OMIM:600802
HP:0002963	Abnormal delayed hypersensitivity skin test	843	CASP10	OMIM:603909
HP:0002963	Abnormal delayed hypersensitivity skin test	5873	RAB27A	OMIM:607624
HP:0002963	Abnormal delayed hypersensitivity skin test	56160	NSMCE3	OMIM:617241
HP:0002963	Abnormal delayed hypersensitivity skin test	356	FASLG	OMIM:601859
HP:0002963	Abnormal delayed hypersensitivity skin test	355	FAS	OMIM:601859
HP:0002965	Cutaneous anergy	4261	CIITA	OMIM:209920
HP:0002965	Cutaneous anergy	57724	EPG5	OMIM:242840
HP:0002965	Cutaneous anergy	3718	JAK3	OMIM:600802
HP:0009811	Abnormality of the elbow	1311	COMP	ORPHA:750
HP:0009811	Abnormality of the elbow	1311	COMP	OMIM:177170
HP:0009811	Abnormality of the elbow	4322	MMP13	OMIM:602111
HP:0009811	Abnormality of the elbow	4882	NPR2	OMIM:602875
HP:0009811	Abnormality of the elbow	10262	SF3B4	OMIM:154400
HP:0009811	Abnormality of the elbow	85301	COL27A1	OMIM:615155
HP:0009811	Abnormality of the elbow	80207	OPA3	ORPHA:67036
HP:0009811	Abnormality of the elbow	6023	RMRP	OMIM:250250
HP:0009811	Abnormality of the elbow	6023	RMRP	ORPHA:175
HP:0009811	Abnormality of the elbow	6023	RMRP	OMIM:607095
HP:0009811	Abnormality of the elbow	90459	ERI1	OMIM:620663
HP:0009811	Abnormality of the elbow	10274	STAG1	ORPHA:502434
HP:0009811	Abnormality of the elbow	538	ATP7A	OMIM:304150
HP:0009811	Abnormality of the elbow	4796	TONSL	ORPHA:93357
HP:0009811	Abnormality of the elbow	4796	TONSL	OMIM:271510
HP:0009811	Abnormality of the elbow	10060	ABCC9	OMIM:619719
HP:0009811	Abnormality of the elbow	4148	MATN3	OMIM:608728
HP:0009811	Abnormality of the elbow	4148	MATN3	ORPHA:156728
HP:0009811	Abnormality of the elbow	54928	BPNT2	OMIM:614078
HP:0009811	Abnormality of the elbow	83737	ITCH	OMIM:613385
HP:0009811	Abnormality of the elbow	2782	GNB1	OMIM:616973
HP:0009811	Abnormality of the elbow	7030	TFE3	OMIM:301066
HP:0009811	Abnormality of the elbow	2146	EZH2	OMIM:277590
HP:0009811	Abnormality of the elbow	633	BGN	OMIM:300106
HP:0009811	Abnormality of the elbow	83452	RAB33B	OMIM:615222
HP:0009811	Abnormality of the elbow	6999	TDO2	OMIM:600627
HP:0009811	Abnormality of the elbow	55012	PPP2R3C	OMIM:618419
HP:0009811	Abnormality of the elbow	3930	LBR	OMIM:618019
HP:0009811	Abnormality of the elbow	5116	PCNT	OMIM:210720
HP:0009811	Abnormality of the elbow	9244	CRLF1	OMIM:272430
HP:0009811	Abnormality of the elbow	6874	TAF4	OMIM:620450
HP:0009811	Abnormality of the elbow	54808	DYM	ORPHA:239
HP:0009811	Abnormality of the elbow	64374	SIL1	OMIM:248800
HP:0009811	Abnormality of the elbow	6424	SFRP4	OMIM:265900
HP:0009811	Abnormality of the elbow	157680	VPS13B	ORPHA:193
HP:0009811	Abnormality of the elbow	157680	VPS13B	OMIM:216550
HP:0009811	Abnormality of the elbow	8216	LZTR1	OMIM:616564
HP:0009811	Abnormality of the elbow	8216	LZTR1	OMIM:605275
HP:0009811	Abnormality of the elbow	3572	IL6ST	OMIM:619750
HP:0009811	Abnormality of the elbow	54361	WNT4	ORPHA:247768
HP:0009811	Abnormality of the elbow	5828	PEX2	OMIM:614866
HP:0009811	Abnormality of the elbow	5894	RAF1	OMIM:611554
HP:0009811	Abnormality of the elbow	5894	RAF1	OMIM:611553
HP:0009811	Abnormality of the elbow	673	BRAF	OMIM:115150
HP:0009811	Abnormality of the elbow	673	BRAF	OMIM:613707
HP:0009811	Abnormality of the elbow	673	BRAF	OMIM:613706
HP:0009811	Abnormality of the elbow	673	BRAF	ORPHA:1340
HP:0009811	Abnormality of the elbow	673	BRAF	OMIM:163950
HP:0009811	Abnormality of the elbow	2254	FGF9	OMIM:612961
HP:0009811	Abnormality of the elbow	57122	NUP107	OMIM:618348
HP:0009811	Abnormality of the elbow	3845	KRAS	OMIM:609942
HP:0009811	Abnormality of the elbow	3845	KRAS	ORPHA:1340
HP:0009811	Abnormality of the elbow	5830	PEX5	OMIM:214110
HP:0009811	Abnormality of the elbow	5447	POR	ORPHA:95699
HP:0009811	Abnormality of the elbow	55027	HEATR3	OMIM:620072
HP:0009811	Abnormality of the elbow	5594	MAPK1	OMIM:619087
HP:0009811	Abnormality of the elbow	8450	CUL4B	ORPHA:85293
HP:0009811	Abnormality of the elbow	23529	CLCF1	OMIM:610313
HP:0009811	Abnormality of the elbow	55717	WDR11	OMIM:620237
HP:0009811	Abnormality of the elbow	6473	SHOX	ORPHA:314795
HP:0009811	Abnormality of the elbow	5189	PEX1	OMIM:214100
HP:0009811	Abnormality of the elbow	4763	NF1	OMIM:601321
HP:0009811	Abnormality of the elbow	5745	PTH1R	ORPHA:296
HP:0009811	Abnormality of the elbow	5745	PTH1R	ORPHA:79106
HP:0009811	Abnormality of the elbow	3418	IDH2	ORPHA:296
HP:0009811	Abnormality of the elbow	3417	IDH1	ORPHA:296
HP:0009811	Abnormality of the elbow	10940	POP1	OMIM:617396
HP:0009811	Abnormality of the elbow	8242	KDM5C	OMIM:300534
HP:0009811	Abnormality of the elbow	9241	NOG	OMIM:186570
HP:0009811	Abnormality of the elbow	9241	NOG	OMIM:186500
HP:0009811	Abnormality of the elbow	54496	PRMT7	OMIM:617157
HP:0009811	Abnormality of the elbow	92255	LMBRD2	OMIM:619694
HP:0009811	Abnormality of the elbow	80204	FBXO11	OMIM:618089
HP:0009811	Abnormality of the elbow	89970	RSPRY1	ORPHA:457395
HP:0009811	Abnormality of the elbow	54880	BCOR	ORPHA:2712
HP:0009811	Abnormality of the elbow	10381	TUBB3	ORPHA:300570
HP:0009811	Abnormality of the elbow	5604	MAP2K1	ORPHA:1340
HP:0009811	Abnormality of the elbow	5604	MAP2K1	OMIM:163950
HP:0009811	Abnormality of the elbow	5605	MAP2K2	ORPHA:1340
HP:0009811	Abnormality of the elbow	444	ASPH	OMIM:601552
HP:0009811	Abnormality of the elbow	5566	PRKACA	ORPHA:289
HP:0009811	Abnormality of the elbow	5567	PRKACB	ORPHA:289
HP:0009811	Abnormality of the elbow	2735	GLI1	ORPHA:289
HP:0009811	Abnormality of the elbow	2121	EVC	ORPHA:289
HP:0009811	Abnormality of the elbow	51626	DYNC2LI1	ORPHA:289
HP:0009811	Abnormality of the elbow	132884	EVC2	ORPHA:289
HP:0009811	Abnormality of the elbow	5781	PTPN11	OMIM:151100
HP:0009811	Abnormality of the elbow	5781	PTPN11	OMIM:163950
HP:0009811	Abnormality of the elbow	5718	PSMD12	ORPHA:529962
HP:0009811	Abnormality of the elbow	2186	BPTF	ORPHA:529962
HP:0009811	Abnormality of the elbow	867	CBL	OMIM:613563
HP:0009811	Abnormality of the elbow	23395	LARS2	OMIM:615300
HP:0009811	Abnormality of the elbow	6736	SRY	ORPHA:1772
HP:0009811	Abnormality of the elbow	200734	SPRED2	OMIM:619745
HP:0009811	Abnormality of the elbow	6654	SOS1	OMIM:610733
HP:0009811	Abnormality of the elbow	2697	GJA1	OMIM:164200
HP:0009811	Abnormality of the elbow	11160	ERLIN2	ORPHA:280384
HP:0009811	Abnormality of the elbow	11160	ERLIN2	ORPHA:209951
HP:0009811	Abnormality of the elbow	4921	DDR2	OMIM:271665
HP:0009811	Abnormality of the elbow	4921	DDR2	OMIM:618175
HP:0009811	Abnormality of the elbow	57190	SELENON	ORPHA:97244
HP:0009811	Abnormality of the elbow	57190	SELENON	ORPHA:2020
HP:0009811	Abnormality of the elbow	58	ACTA1	ORPHA:97244
HP:0009811	Abnormality of the elbow	58	ACTA1	ORPHA:2020
HP:0009811	Abnormality of the elbow	83932	SPRTN	OMIM:616200
HP:0009811	Abnormality of the elbow	5352	PLOD2	OMIM:609220
HP:0009811	Abnormality of the elbow	1303	COL12A1	ORPHA:75840
HP:0009811	Abnormality of the elbow	1303	COL12A1	ORPHA:536516
HP:0009811	Abnormality of the elbow	1303	COL12A1	ORPHA:610
HP:0009811	Abnormality of the elbow	1291	COL6A1	ORPHA:75840
HP:0009811	Abnormality of the elbow	1291	COL6A1	ORPHA:610
HP:0009811	Abnormality of the elbow	1292	COL6A2	ORPHA:75840
HP:0009811	Abnormality of the elbow	1292	COL6A2	ORPHA:610
HP:0009811	Abnormality of the elbow	1293	COL6A3	ORPHA:75840
HP:0009811	Abnormality of the elbow	1293	COL6A3	ORPHA:610
HP:0009811	Abnormality of the elbow	6840	SVIL	OMIM:619040
HP:0009811	Abnormality of the elbow	55315	SLC29A3	OMIM:602782
HP:0009811	Abnormality of the elbow	825	CAPN3	ORPHA:267
HP:0009811	Abnormality of the elbow	91179	SCARF2	OMIM:600920
HP:0009811	Abnormality of the elbow	3714	JAG2	OMIM:619566
HP:0009811	Abnormality of the elbow	6536	SLC6A9	OMIM:617301
HP:0009811	Abnormality of the elbow	5831	PYCR1	OMIM:614438
HP:0009811	Abnormality of the elbow	4000	LMNA	OMIM:248370
HP:0009811	Abnormality of the elbow	4000	LMNA	OMIM:616516
HP:0009811	Abnormality of the elbow	4000	LMNA	ORPHA:98855
HP:0009811	Abnormality of the elbow	4000	LMNA	ORPHA:98853
HP:0009811	Abnormality of the elbow	2067	ERCC1	OMIM:610758
HP:0009811	Abnormality of the elbow	4621	MYH3	OMIM:193700
HP:0009811	Abnormality of the elbow	4621	MYH3	OMIM:178110
HP:0009811	Abnormality of the elbow	2010	EMD	OMIM:310300
HP:0009811	Abnormality of the elbow	2010	EMD	ORPHA:98863
HP:0009811	Abnormality of the elbow	5351	PLOD1	ORPHA:1900
HP:0009811	Abnormality of the elbow	7020	TFAP2A	OMIM:113620
HP:0009811	Abnormality of the elbow	6926	TBX3	OMIM:181450
HP:0009811	Abnormality of the elbow	4633	MYL2	ORPHA:2020
HP:0009811	Abnormality of the elbow	3679	ITGA7	ORPHA:2020
HP:0009811	Abnormality of the elbow	7169	TPM2	ORPHA:2020
HP:0009811	Abnormality of the elbow	7169	TPM2	OMIM:108120
HP:0009811	Abnormality of the elbow	9200	HACD1	ORPHA:2020
HP:0009811	Abnormality of the elbow	7170	TPM3	ORPHA:2020
HP:0009811	Abnormality of the elbow	51776	MAP3K20	ORPHA:2020
HP:0009811	Abnormality of the elbow	3977	LIFR	OMIM:601559
HP:0009811	Abnormality of the elbow	3977	LIFR	ORPHA:3206
HP:0009811	Abnormality of the elbow	127833	SYT2	OMIM:619461
HP:0009811	Abnormality of the elbow	54681	P4HTM	OMIM:618493
HP:0009811	Abnormality of the elbow	5277	PIGA	OMIM:300868
HP:0009811	Abnormality of the elbow	8985	PLOD3	OMIM:612394
HP:0009811	Abnormality of the elbow	545	ATR	OMIM:210600
HP:0009811	Abnormality of the elbow	3908	LAMA2	OMIM:618138
HP:0009811	Abnormality of the elbow	2783	GNB2	OMIM:619503
HP:0009811	Abnormality of the elbow	4632	MYL1	OMIM:618414
HP:0009811	Abnormality of the elbow	2074	ERCC6	OMIM:214150
HP:0009811	Abnormality of the elbow	9653	HS2ST1	OMIM:619194
HP:0009811	Abnormality of the elbow	9051	PSTPIP1	OMIM:604416
HP:0009811	Abnormality of the elbow	59341	TRPV4	OMIM:600175
HP:0009811	Abnormality of the elbow	59341	TRPV4	OMIM:184252
HP:0009811	Abnormality of the elbow	84065	TMEM222	OMIM:619470
HP:0009811	Abnormality of the elbow	3835	KIF22	ORPHA:93360
HP:0009811	Abnormality of the elbow	6628	SNRPB	OMIM:117650
HP:0009811	Abnormality of the elbow	29895	MYL11	OMIM:619110
HP:0009811	Abnormality of the elbow	340419	RSPO2	OMIM:618022
HP:0009811	Abnormality of the elbow	1861	TOR1A	OMIM:618947
HP:0009811	Abnormality of the elbow	259232	NALCN	ORPHA:371364
HP:0009811	Abnormality of the elbow	259232	NALCN	OMIM:616266
HP:0009811	Abnormality of the elbow	285175	UNC80	ORPHA:371364
HP:0009811	Abnormality of the elbow	84992	PIGY	OMIM:616809
HP:0009811	Abnormality of the elbow	2222	FDFT1	OMIM:618156
HP:0009811	Abnormality of the elbow	163175	LGI4	OMIM:617468
HP:0009811	Abnormality of the elbow	60681	FKBP10	OMIM:259450
HP:0009811	Abnormality of the elbow	2799	GNS	OMIM:252940
HP:0009811	Abnormality of the elbow	9215	LARGE1	OMIM:608840
HP:0009811	Abnormality of the elbow	1376	CPT2	OMIM:608836
HP:0009811	Abnormality of the elbow	342035	GLDN	OMIM:617194
HP:0009811	Abnormality of the elbow	339855	KY	OMIM:617114
HP:0009811	Abnormality of the elbow	5286	PIK3C2A	OMIM:618440
HP:0009811	Abnormality of the elbow	7317	UBA1	ORPHA:1145
HP:0009811	Abnormality of the elbow	23219	FBXO28	OMIM:619777
HP:0009811	Abnormality of the elbow	55681	SCYL2	ORPHA:1143
HP:0009811	Abnormality of the elbow	84570	COL25A1	ORPHA:1143
HP:0009811	Abnormality of the elbow	57222	ERGIC1	ORPHA:1143
HP:0009811	Abnormality of the elbow	6329	SCN4A	OMIM:620369
HP:0009811	Abnormality of the elbow	64116	SLC39A8	ORPHA:468699
HP:0009811	Abnormality of the elbow	5832	ALDH18A1	ORPHA:447757
HP:0009811	Abnormality of the elbow	26229	B3GAT3	OMIM:245600
HP:0009811	Abnormality of the elbow	91137	SLC25A46	OMIM:619303
HP:0009811	Abnormality of the elbow	2706	GJB2	OMIM:148210
HP:0009811	Abnormality of the elbow	5696	PSMB8	OMIM:256040
HP:0009811	Abnormality of the elbow	1756	DMD	ORPHA:206546
HP:0009811	Abnormality of the elbow	79188	TMEM43	ORPHA:98853
HP:0009811	Abnormality of the elbow	23345	SYNE1	ORPHA:98853
HP:0009811	Abnormality of the elbow	23224	SYNE2	ORPHA:98853
HP:0009811	Abnormality of the elbow	203859	ANO5	ORPHA:206549
HP:0009811	Abnormality of the elbow	2137	EXTL3	ORPHA:508533
HP:0009811	Abnormality of the elbow	8243	SMC1A	OMIM:300590
HP:0009811	Abnormality of the elbow	6399	TRAPPC2	ORPHA:93284
HP:0009811	Abnormality of the elbow	2316	FLNA	OMIM:305620
HP:0009811	Abnormality of the elbow	2316	FLNA	ORPHA:1826
HP:0009811	Abnormality of the elbow	145173	B3GLCT	OMIM:261540
HP:0009811	Abnormality of the elbow	57167	SALL4	OMIM:147750
HP:0009811	Abnormality of the elbow	8815	BANF1	OMIM:614008
HP:0009811	Abnormality of the elbow	1280	COL2A1	ORPHA:94068
HP:0009811	Abnormality of the elbow	1280	COL2A1	OMIM:183900
HP:0009811	Abnormality of the elbow	6885	MAP3K7	ORPHA:1826
HP:0009811	Abnormality of the elbow	8291	DYSF	ORPHA:268
HP:0009811	Abnormality of the elbow	9401	RECQL4	OMIM:218600
HP:0009811	Abnormality of the elbow	78989	COLEC11	OMIM:265050
HP:0009811	Abnormality of the elbow	9427	ECEL1	OMIM:615065
HP:0009811	Abnormality of the elbow	27145	FILIP1	OMIM:620775
HP:0009811	Abnormality of the elbow	126792	B3GALT6	OMIM:615349
HP:0009811	Abnormality of the elbow	126792	B3GALT6	OMIM:271640
HP:0009811	Abnormality of the elbow	3265	HRAS	OMIM:218040
HP:0009811	Abnormality of the elbow	2273	FHL1	OMIM:300280
HP:0009811	Abnormality of the elbow	9126	SMC3	OMIM:610759
HP:0009811	Abnormality of the elbow	2263	FGFR2	OMIM:101200
HP:0009811	Abnormality of the elbow	4054	LTBP3	OMIM:617809
HP:0009811	Abnormality of the elbow	56603	CYP26B1	OMIM:614416
HP:0009811	Abnormality of the elbow	23476	BRD4	ORPHA:199
HP:0009811	Abnormality of the elbow	6878	TAF6	ORPHA:199
HP:0009811	Abnormality of the elbow	25836	NIPBL	ORPHA:199
HP:0009811	Abnormality of the elbow	55869	HDAC8	ORPHA:199
HP:0009811	Abnormality of the elbow	5885	RAD21	ORPHA:199
HP:0009811	Abnormality of the elbow	1857	DVL3	ORPHA:3107
HP:0009811	Abnormality of the elbow	7474	WNT5A	ORPHA:3107
HP:0009811	Abnormality of the elbow	1855	DVL1	ORPHA:3107
HP:0009811	Abnormality of the elbow	2535	FZD2	ORPHA:3107
HP:0009811	Abnormality of the elbow	2535	FZD2	ORPHA:93328
HP:0009811	Abnormality of the elbow	100151683	RNU4ATAC	OMIM:210710
HP:0009811	Abnormality of the elbow	100151683	RNU4ATAC	ORPHA:1824
HP:0009811	Abnormality of the elbow	347734	SLC35B2	OMIM:620269
HP:0009811	Abnormality of the elbow	1836	SLC26A2	ORPHA:628
HP:0009811	Abnormality of the elbow	1836	SLC26A2	ORPHA:56304
HP:0009811	Abnormality of the elbow	2317	FLNB	ORPHA:56305
HP:0009811	Abnormality of the elbow	2317	FLNB	OMIM:108721
HP:0009811	Abnormality of the elbow	2317	FLNB	OMIM:108720
HP:0009811	Abnormality of the elbow	2317	FLNB	OMIM:150250
HP:0009811	Abnormality of the elbow	8200	GDF5	ORPHA:3250
HP:0009811	Abnormality of the elbow	8200	GDF5	OMIM:201250
HP:0009811	Abnormality of the elbow	8200	GDF5	ORPHA:968
HP:0009811	Abnormality of the elbow	2201	FBN2	OMIM:121050
HP:0009811	Abnormality of the elbow	9555	MACROH2A1	ORPHA:1275
HP:0009811	Abnormality of the elbow	5307	PITX1	ORPHA:1275
HP:0009811	Abnormality of the elbow	4038	LRP4	ORPHA:3258
HP:0009811	Abnormality of the elbow	324	APC	ORPHA:3258
HP:0009811	Abnormality of the elbow	3187	HNRNPH1	OMIM:620083
HP:0009811	Abnormality of the elbow	4998	ORC1	OMIM:224690
HP:0009811	Abnormality of the elbow	4998	ORC1	ORPHA:2554
HP:0009811	Abnormality of the elbow	64359	NXN	ORPHA:1507
HP:0009811	Abnormality of the elbow	4920	ROR2	ORPHA:1507
HP:0009811	Abnormality of the elbow	81620	CDT1	ORPHA:2554
HP:0009811	Abnormality of the elbow	5000	ORC4	ORPHA:2554
HP:0009811	Abnormality of the elbow	23594	ORC6	ORPHA:2554
HP:0009811	Abnormality of the elbow	8318	CDC45	ORPHA:2554
HP:0009811	Abnormality of the elbow	990	CDC6	ORPHA:2554
HP:0009811	Abnormality of the elbow	990	CDC6	OMIM:613805
HP:0009811	Abnormality of the elbow	51053	GMNN	ORPHA:2554
HP:0009811	Abnormality of the elbow	64131	XYLT1	ORPHA:1425
HP:0009811	Abnormality of the elbow	124583	CANT1	ORPHA:1425
HP:0009811	Abnormality of the elbow	55790	CSGALNACT1	ORPHA:1425
HP:0009811	Abnormality of the elbow	3339	HSPG2	ORPHA:800
HP:0009811	Abnormality of the elbow	64093	SMOC1	ORPHA:1106
HP:0009811	Abnormality of the elbow	6910	TBX5	OMIM:142900
HP:0009811	Abnormality of the elbow	10082	GPC6	ORPHA:93329
HP:0009811	Abnormality of the elbow	2200	FBN1	ORPHA:2462
HP:0009811	Abnormality of the elbow	6497	SKI	ORPHA:2462
HP:0009811	Abnormality of the elbow	165	AEBP1	ORPHA:536532
HP:0009811	Abnormality of the elbow	2260	FGFR1	OMIM:101600
HP:0009811	Abnormality of the elbow	9791	PTDSS1	ORPHA:2658
HP:0009811	Abnormality of the elbow	7476	WNT7A	OMIM:276820
HP:0009811	Abnormality of the elbow	4593	MUSK	OMIM:208150
HP:0009811	Abnormality of the elbow	11285	B4GALT7	OMIM:130070
HP:0009811	Abnormality of the elbow	1182	CLCN3	OMIM:619512
HP:0009811	Abnormality of the elbow	2033	EP300	OMIM:180849
HP:0009811	Abnormality of the elbow	1387	CREBBP	OMIM:180849
HP:0009811	Abnormality of the elbow	145258	GSC	OMIM:602471
HP:0009811	Abnormality of the elbow	10847	SRCAP	OMIM:136140
HP:0009811	Abnormality of the elbow	10847	SRCAP	ORPHA:2044
HP:0009811	Abnormality of the elbow	23233	EXOC6B	OMIM:618395
HP:0009811	Abnormality of the elbow	6662	SOX9	OMIM:114290
HP:0009811	Abnormality of the elbow	10225	CD96	OMIM:211750
HP:0009811	Abnormality of the elbow	10225	CD96	ORPHA:1308
HP:0009811	Abnormality of the elbow	1146	CHRNG	OMIM:265000
HP:0009811	Abnormality of the elbow	57492	ARID1B	OMIM:135900
HP:0009811	Abnormality of the elbow	3899	AFF3	OMIM:619297
HP:0009811	Abnormality of the elbow	4853	NOTCH2	OMIM:102500
HP:0009811	Abnormality of the elbow	1277	COL1A1	ORPHA:287
HP:0009811	Abnormality of the elbow	1289	COL5A1	ORPHA:287
HP:0009811	Abnormality of the elbow	1290	COL5A2	ORPHA:287
HP:0009811	Abnormality of the elbow	3897	L1CAM	OMIM:304100
HP:0009811	Abnormality of the elbow	171023	ASXL1	OMIM:605039
HP:0009811	Abnormality of the elbow	91252	SLC39A13	OMIM:612350
HP:0009811	Abnormality of the elbow	649	BMP1	OMIM:614856
HP:0009811	Abnormality of the elbow	29980	DONSON	OMIM:617604
HP:0009811	Abnormality of the elbow	5573	PRKAR1A	OMIM:101800
HP:0009811	Abnormality of the elbow	341208	HEPHL1	OMIM:261990
HP:0009811	Abnormality of the elbow	10216	PRG4	ORPHA:2848
HP:0009811	Abnormality of the elbow	5167	ENPP1	ORPHA:51608
HP:0009811	Abnormality of the elbow	368	ABCC6	ORPHA:51608
HP:0009811	Abnormality of the elbow	6913	TBX15	ORPHA:93333
HP:0009811	Abnormality of the elbow	2887	GRB10	ORPHA:96182
HP:0009811	Abnormality of the elbow	1297	COL9A1	ORPHA:166002
HP:0009811	Abnormality of the elbow	1298	COL9A2	ORPHA:166002
HP:0009811	Abnormality of the elbow	1299	COL9A3	ORPHA:166002
HP:0009811	Abnormality of the elbow	9935	MAFB	OMIM:166300
HP:0009811	Abnormality of the elbow	51305	KCNK9	ORPHA:166108
HP:0009811	Abnormality of the elbow	9968	MED12	ORPHA:93932
HP:0009811	Abnormality of the elbow	9499	MYOT	ORPHA:266
HP:0009811	Abnormality of the elbow	4233	MET	OMIM:620019
HP:0009811	Abnormality of the elbow	4091	SMAD6	OMIM:179300
HP:0009811	Abnormality of the elbow	10584	COLEC10	ORPHA:293843
HP:0009811	Abnormality of the elbow	5648	MASP1	ORPHA:293843
HP:0009811	Abnormality of the elbow	2122	MECOM	OMIM:616738
HP:0009811	Abnormality of the elbow	3207	HOXA11	OMIM:605432
HP:0009811	Abnormality of the elbow	387733	IFITM5	OMIM:610967
HP:0009811	Abnormality of the elbow	6812	STXBP1	ORPHA:495818
HP:0009811	Abnormality of the elbow	427	ASAH1	ORPHA:333
HP:0009811	Abnormality of the elbow	9469	CHST3	ORPHA:263463
HP:0009811	Abnormality of the elbow	1593	CYP27A1	ORPHA:909
HP:0009811	Abnormality of the elbow	4010	LMX1B	ORPHA:2614
HP:0009811	Abnormality of the elbow	2733	GLE1	ORPHA:1486
HP:0009811	Abnormality of the elbow	9820	CUL7	ORPHA:2616
HP:0009811	Abnormality of the elbow	23363	OBSL1	ORPHA:2616
HP:0009811	Abnormality of the elbow	83987	CCDC8	ORPHA:2616
HP:0009811	Abnormality of the elbow	3425	IDUA	ORPHA:93473
HP:0009811	Abnormality of the elbow	2261	FGFR3	ORPHA:429
HP:0009811	Abnormality of the elbow	157570	ESCO2	ORPHA:2319
HP:0009811	Abnormality of the elbow	4297	KMT2A	ORPHA:319182
HP:0009811	Abnormality of the elbow	1294	COL7A1	ORPHA:158673
HP:0009811	Abnormality of the elbow	1294	COL7A1	ORPHA:89843
HP:0009811	Abnormality of the elbow	8838	CCN6	ORPHA:1159
HP:0009811	Abnormality of the elbow	8036	SHOC2	ORPHA:2701
HP:0009811	Abnormality of the elbow	5500	PPP1CB	ORPHA:2701
HP:0009811	Abnormality of the elbow	2690	GHR	ORPHA:633
HP:0009811	Abnormality of the elbow	2588	GALNS	OMIM:253000
HP:0002967	Cubitus valgus	64374	SIL1	OMIM:248800
HP:0002967	Cubitus valgus	8036	SHOC2	OMIM:607721
HP:0002967	Cubitus valgus	6424	SFRP4	OMIM:265900
HP:0002967	Cubitus valgus	157680	VPS13B	ORPHA:193
HP:0002967	Cubitus valgus	157680	VPS13B	OMIM:216550
HP:0002967	Cubitus valgus	8216	LZTR1	OMIM:616564
HP:0002967	Cubitus valgus	8216	LZTR1	OMIM:605275
HP:0002967	Cubitus valgus	3572	IL6ST	OMIM:619750
HP:0002967	Cubitus valgus	4010	LMX1B	ORPHA:2614
HP:0002967	Cubitus valgus	54361	WNT4	ORPHA:247768
HP:0002967	Cubitus valgus	5828	PEX2	OMIM:614866
HP:0002967	Cubitus valgus	5894	RAF1	OMIM:611554
HP:0002967	Cubitus valgus	5894	RAF1	OMIM:611553
HP:0002967	Cubitus valgus	673	BRAF	OMIM:115150
HP:0002967	Cubitus valgus	673	BRAF	OMIM:613707
HP:0002967	Cubitus valgus	673	BRAF	OMIM:613706
HP:0002967	Cubitus valgus	673	BRAF	ORPHA:1340
HP:0002967	Cubitus valgus	673	BRAF	OMIM:163950
HP:0002967	Cubitus valgus	2254	FGF9	OMIM:612961
HP:0002967	Cubitus valgus	57122	NUP107	OMIM:618348
HP:0002967	Cubitus valgus	3845	KRAS	OMIM:609942
HP:0002967	Cubitus valgus	3845	KRAS	ORPHA:1340
HP:0002967	Cubitus valgus	5830	PEX5	OMIM:214110
HP:0002967	Cubitus valgus	5447	POR	ORPHA:95699
HP:0002967	Cubitus valgus	55027	HEATR3	OMIM:620072
HP:0002967	Cubitus valgus	5594	MAPK1	OMIM:619087
HP:0002967	Cubitus valgus	8450	CUL4B	ORPHA:85293
HP:0002967	Cubitus valgus	23529	CLCF1	OMIM:610313
HP:0002967	Cubitus valgus	55717	WDR11	OMIM:620237
HP:0002967	Cubitus valgus	6473	SHOX	ORPHA:314795
HP:0002967	Cubitus valgus	5189	PEX1	OMIM:214100
HP:0002967	Cubitus valgus	4763	NF1	OMIM:601321
HP:0002967	Cubitus valgus	5745	PTH1R	ORPHA:296
HP:0002967	Cubitus valgus	5745	PTH1R	ORPHA:79106
HP:0002967	Cubitus valgus	3418	IDH2	ORPHA:296
HP:0002967	Cubitus valgus	3417	IDH1	ORPHA:296
HP:0002967	Cubitus valgus	10940	POP1	OMIM:617396
HP:0002967	Cubitus valgus	8242	KDM5C	OMIM:300534
HP:0002967	Cubitus valgus	9469	CHST3	ORPHA:263463
HP:0002967	Cubitus valgus	9469	CHST3	OMIM:143095
HP:0002967	Cubitus valgus	9241	NOG	OMIM:186570
HP:0002967	Cubitus valgus	9241	NOG	OMIM:186500
HP:0002967	Cubitus valgus	54496	PRMT7	OMIM:617157
HP:0002967	Cubitus valgus	92255	LMBRD2	OMIM:619694
HP:0002967	Cubitus valgus	80204	FBXO11	OMIM:618089
HP:0002967	Cubitus valgus	89970	RSPRY1	ORPHA:457395
HP:0002967	Cubitus valgus	54880	BCOR	ORPHA:2712
HP:0002967	Cubitus valgus	10381	TUBB3	ORPHA:300570
HP:0002967	Cubitus valgus	5604	MAP2K1	ORPHA:1340
HP:0002967	Cubitus valgus	5604	MAP2K1	OMIM:163950
HP:0002967	Cubitus valgus	5605	MAP2K2	ORPHA:1340
HP:0002967	Cubitus valgus	444	ASPH	OMIM:601552
HP:0002967	Cubitus valgus	5566	PRKACA	ORPHA:289
HP:0002967	Cubitus valgus	5567	PRKACB	ORPHA:289
HP:0002967	Cubitus valgus	2735	GLI1	ORPHA:289
HP:0002967	Cubitus valgus	2121	EVC	ORPHA:289
HP:0002967	Cubitus valgus	51626	DYNC2LI1	ORPHA:289
HP:0002967	Cubitus valgus	132884	EVC2	ORPHA:289
HP:0002967	Cubitus valgus	5781	PTPN11	OMIM:151100
HP:0002967	Cubitus valgus	5781	PTPN11	OMIM:163950
HP:0002967	Cubitus valgus	5718	PSMD12	ORPHA:529962
HP:0002967	Cubitus valgus	2186	BPTF	ORPHA:529962
HP:0002967	Cubitus valgus	867	CBL	OMIM:613563
HP:0002967	Cubitus valgus	23395	LARS2	OMIM:615300
HP:0002967	Cubitus valgus	6736	SRY	ORPHA:1772
HP:0002967	Cubitus valgus	200734	SPRED2	OMIM:619745
HP:0002967	Cubitus valgus	6654	SOS1	OMIM:610733
HP:0002967	Cubitus valgus	2697	GJA1	OMIM:164200
HP:0009815	Aplasia/hypoplasia of the extremities	9451	EIF2AK3	OMIM:226980
HP:0009815	Aplasia/hypoplasia of the extremities	79158	GNPTAB	OMIM:252600
HP:0009815	Aplasia/hypoplasia of the extremities	79158	GNPTAB	OMIM:252500
HP:0009815	Aplasia/hypoplasia of the extremities	5832	ALDH18A1	OMIM:601162
HP:0009815	Aplasia/hypoplasia of the extremities	23111	SPART	OMIM:275900
HP:0009815	Aplasia/hypoplasia of the extremities	8450	CUL4B	OMIM:300354
HP:0009815	Aplasia/hypoplasia of the extremities	8450	CUL4B	ORPHA:85293
HP:0009815	Aplasia/hypoplasia of the extremities	2245	FGD1	OMIM:305400
HP:0009815	Aplasia/hypoplasia of the extremities	2245	FGD1	ORPHA:915
HP:0009815	Aplasia/hypoplasia of the extremities	26235	FBXL4	OMIM:615471
HP:0009815	Aplasia/hypoplasia of the extremities	22856	CHSY1	ORPHA:363417
HP:0009815	Aplasia/hypoplasia of the extremities	124997	WDR81	OMIM:610185
HP:0009815	Aplasia/hypoplasia of the extremities	5648	MASP1	OMIM:257920
HP:0009815	Aplasia/hypoplasia of the extremities	23314	SATB2	ORPHA:251028
HP:0009815	Aplasia/hypoplasia of the extremities	23314	SATB2	ORPHA:576283
HP:0009815	Aplasia/hypoplasia of the extremities	9759	HDAC4	ORPHA:1001
HP:0009815	Aplasia/hypoplasia of the extremities	10973	ASCC3	OMIM:620700
HP:0009815	Aplasia/hypoplasia of the extremities	650	BMP2	ORPHA:93396
HP:0009815	Aplasia/hypoplasia of the extremities	100033413	SNORD116-1	OMIM:176270
HP:0009815	Aplasia/hypoplasia of the extremities	8924	HERC2	OMIM:176270
HP:0009815	Aplasia/hypoplasia of the extremities	23742	NPAP1	OMIM:176270
HP:0009815	Aplasia/hypoplasia of the extremities	338433	SNORD115-1	OMIM:176270
HP:0009815	Aplasia/hypoplasia of the extremities	54551	MAGEL2	OMIM:176270
HP:0009815	Aplasia/hypoplasia of the extremities	54551	MAGEL2	ORPHA:177904
HP:0009815	Aplasia/hypoplasia of the extremities	54551	MAGEL2	ORPHA:177901
HP:0009815	Aplasia/hypoplasia of the extremities	54551	MAGEL2	ORPHA:398069
HP:0009815	Aplasia/hypoplasia of the extremities	54551	MAGEL2	ORPHA:177910
HP:0009815	Aplasia/hypoplasia of the extremities	54551	MAGEL2	OMIM:615547
HP:0009815	Aplasia/hypoplasia of the extremities	54551	MAGEL2	ORPHA:98754
HP:0009815	Aplasia/hypoplasia of the extremities	7681	MKRN3	OMIM:176270
HP:0009815	Aplasia/hypoplasia of the extremities	145624	PWAR1	OMIM:176270
HP:0009815	Aplasia/hypoplasia of the extremities	3653	IPW	OMIM:176270
HP:0009815	Aplasia/hypoplasia of the extremities	791114	PWRN1	OMIM:176270
HP:0009815	Aplasia/hypoplasia of the extremities	6792	CDKL5	ORPHA:3095
HP:0009815	Aplasia/hypoplasia of the extremities	6792	CDKL5	OMIM:300672
HP:0009815	Aplasia/hypoplasia of the extremities	22854	NTNG1	ORPHA:3095
HP:0009815	Aplasia/hypoplasia of the extremities	9568	GABBR2	ORPHA:3095
HP:0009815	Aplasia/hypoplasia of the extremities	9568	GABBR2	OMIM:617903
HP:0009815	Aplasia/hypoplasia of the extremities	4204	MECP2	ORPHA:3095
HP:0009815	Aplasia/hypoplasia of the extremities	4204	MECP2	OMIM:300260
HP:0009815	Aplasia/hypoplasia of the extremities	4204	MECP2	OMIM:312750
HP:0009815	Aplasia/hypoplasia of the extremities	1062	CENPE	OMIM:616051
HP:0009815	Aplasia/hypoplasia of the extremities	6651	SON	OMIM:617140
HP:0009815	Aplasia/hypoplasia of the extremities	23030	KDM4B	OMIM:619320
HP:0009815	Aplasia/hypoplasia of the extremities	6905	TBCE	ORPHA:2323
HP:0009815	Aplasia/hypoplasia of the extremities	6905	TBCE	OMIM:241410
HP:0009815	Aplasia/hypoplasia of the extremities	6905	TBCE	OMIM:244460
HP:0009815	Aplasia/hypoplasia of the extremities	6905	TBCE	ORPHA:93324
HP:0009815	Aplasia/hypoplasia of the extremities	6492	SIM1	ORPHA:398079
HP:0009815	Aplasia/hypoplasia of the extremities	55777	MBD5	OMIM:156200
HP:0009815	Aplasia/hypoplasia of the extremities	6638	SNRPN	ORPHA:177904
HP:0009815	Aplasia/hypoplasia of the extremities	6638	SNRPN	ORPHA:177901
HP:0009815	Aplasia/hypoplasia of the extremities	6638	SNRPN	ORPHA:177910
HP:0009815	Aplasia/hypoplasia of the extremities	6638	SNRPN	ORPHA:177907
HP:0009815	Aplasia/hypoplasia of the extremities	6638	SNRPN	ORPHA:98754
HP:0009815	Aplasia/hypoplasia of the extremities	4692	NDN	ORPHA:177904
HP:0009815	Aplasia/hypoplasia of the extremities	4692	NDN	ORPHA:177901
HP:0009815	Aplasia/hypoplasia of the extremities	4692	NDN	ORPHA:177910
HP:0009815	Aplasia/hypoplasia of the extremities	4692	NDN	ORPHA:98754
HP:0009815	Aplasia/hypoplasia of the extremities	4948	OCA2	ORPHA:177904
HP:0009815	Aplasia/hypoplasia of the extremities	4948	OCA2	ORPHA:177901
HP:0009815	Aplasia/hypoplasia of the extremities	4948	OCA2	ORPHA:98754
HP:0009815	Aplasia/hypoplasia of the extremities	2590	GALNT2	OMIM:618885
HP:0009815	Aplasia/hypoplasia of the extremities	818	CAMK2G	OMIM:618522
HP:0009815	Aplasia/hypoplasia of the extremities	80204	FBXO11	OMIM:618089
HP:0009815	Aplasia/hypoplasia of the extremities	1778	DYNC1H1	OMIM:614563
HP:0009815	Aplasia/hypoplasia of the extremities	3064	HTT	OMIM:617435
HP:0009815	Aplasia/hypoplasia of the extremities	10381	TUBB3	ORPHA:300570
HP:0009815	Aplasia/hypoplasia of the extremities	84100	ARL6	OMIM:209900
HP:0009815	Aplasia/hypoplasia of the extremities	79140	CCDC28B	OMIM:209900
HP:0009815	Aplasia/hypoplasia of the extremities	582	BBS1	OMIM:209900
HP:0009815	Aplasia/hypoplasia of the extremities	3759	KCNJ2	OMIM:170390
HP:0009815	Aplasia/hypoplasia of the extremities	3759	KCNJ2	ORPHA:37553
HP:0009815	Aplasia/hypoplasia of the extremities	6045	RNF2	OMIM:619460
HP:0009815	Aplasia/hypoplasia of the extremities	7319	UBE2A	OMIM:300860
HP:0009815	Aplasia/hypoplasia of the extremities	7319	UBE2A	ORPHA:163956
HP:0009815	Aplasia/hypoplasia of the extremities	10943	MSL3	OMIM:301032
HP:0009815	Aplasia/hypoplasia of the extremities	10087	CERT1	OMIM:616351
HP:0009815	Aplasia/hypoplasia of the extremities	633	BGN	OMIM:300106
HP:0009815	Aplasia/hypoplasia of the extremities	6885	MAP3K7	OMIM:157800
HP:0009815	Aplasia/hypoplasia of the extremities	6304	SATB1	OMIM:619229
HP:0009815	Aplasia/hypoplasia of the extremities	25942	SIN3A	OMIM:613406
HP:0009815	Aplasia/hypoplasia of the extremities	9487	PIGL	ORPHA:3474
HP:0009815	Aplasia/hypoplasia of the extremities	2697	GJA1	OMIM:257850
HP:0009815	Aplasia/hypoplasia of the extremities	3981	LIG4	ORPHA:235
HP:0009815	Aplasia/hypoplasia of the extremities	54888	NSUN2	ORPHA:235
HP:0009815	Aplasia/hypoplasia of the extremities	7874	USP7	ORPHA:500055
HP:0009815	Aplasia/hypoplasia of the extremities	8493	PPM1D	OMIM:617450
HP:0009815	Aplasia/hypoplasia of the extremities	57003	CCDC47	OMIM:618268
HP:0009815	Aplasia/hypoplasia of the extremities	2200	FBN1	OMIM:614185
HP:0009815	Aplasia/hypoplasia of the extremities	2200	FBN1	OMIM:102370
HP:0009815	Aplasia/hypoplasia of the extremities	8239	USP9X	ORPHA:480880
HP:0009815	Aplasia/hypoplasia of the extremities	8239	USP9X	OMIM:300968
HP:0009815	Aplasia/hypoplasia of the extremities	9894	TELO2	ORPHA:488642
HP:0009815	Aplasia/hypoplasia of the extremities	80232	WDR26	OMIM:617616
HP:0009815	Aplasia/hypoplasia of the extremities	8364	H4C3	OMIM:619758
HP:0009815	Aplasia/hypoplasia of the extremities	5590	PRKCZ	ORPHA:1606
HP:0009815	Aplasia/hypoplasia of the extremities	2563	GABRD	ORPHA:1606
HP:0009815	Aplasia/hypoplasia of the extremities	23013	SPEN	ORPHA:1606
HP:0009815	Aplasia/hypoplasia of the extremities	8510	MMP23B	ORPHA:1606
HP:0009815	Aplasia/hypoplasia of the extremities	7798	LUZP1	ORPHA:1606
HP:0009815	Aplasia/hypoplasia of the extremities	6497	SKI	ORPHA:1606
HP:0009815	Aplasia/hypoplasia of the extremities	10630	PDPN	ORPHA:1606
HP:0009815	Aplasia/hypoplasia of the extremities	10277	UBE4B	ORPHA:1606
HP:0009815	Aplasia/hypoplasia of the extremities	8514	KCNAB2	ORPHA:1606
HP:0009815	Aplasia/hypoplasia of the extremities	473	RERE	ORPHA:1606
HP:0009815	Aplasia/hypoplasia of the extremities	63976	PRDM16	ORPHA:1606
HP:0009815	Aplasia/hypoplasia of the extremities	54897	CASZ1	ORPHA:1606
HP:0009815	Aplasia/hypoplasia of the extremities	9719	ADAMTSL2	OMIM:231050
HP:0009815	Aplasia/hypoplasia of the extremities	1859	DYRK1A	ORPHA:464311
HP:0009815	Aplasia/hypoplasia of the extremities	10236	HNRNPR	OMIM:620073
HP:0009815	Aplasia/hypoplasia of the extremities	79718	TBL1XR1	OMIM:602342
HP:0009815	Aplasia/hypoplasia of the extremities	23556	PIGN	ORPHA:280633
HP:0009815	Aplasia/hypoplasia of the extremities	4089	SMAD4	OMIM:139210
HP:0009815	Aplasia/hypoplasia of the extremities	7750	ZMYM2	OMIM:619522
HP:0009815	Aplasia/hypoplasia of the extremities	3800	KIF5C	OMIM:615282
HP:0009815	Aplasia/hypoplasia of the extremities	5159	PDGFRB	OMIM:601812
HP:0009815	Aplasia/hypoplasia of the extremities	81887	LAS1L	ORPHA:3459
HP:0009815	Aplasia/hypoplasia of the extremities	81887	LAS1L	OMIM:309585
HP:0009815	Aplasia/hypoplasia of the extremities	2239	GPC4	ORPHA:373
HP:0009815	Aplasia/hypoplasia of the extremities	2239	GPC4	OMIM:312870
HP:0009815	Aplasia/hypoplasia of the extremities	2719	GPC3	ORPHA:373
HP:0009815	Aplasia/hypoplasia of the extremities	2719	GPC3	OMIM:312870
HP:0009815	Aplasia/hypoplasia of the extremities	8242	KDM5C	OMIM:300534
HP:0009815	Aplasia/hypoplasia of the extremities	23162	MAPK8IP3	OMIM:618443
HP:0009815	Aplasia/hypoplasia of the extremities	2332	FMR1	ORPHA:261483
HP:0009815	Aplasia/hypoplasia of the extremities	147372	CCBE1	OMIM:235510
HP:0009815	Aplasia/hypoplasia of the extremities	9130	FAM50A	OMIM:300261
HP:0009815	Aplasia/hypoplasia of the extremities	8295	TRRAP	OMIM:618454
HP:0009815	Aplasia/hypoplasia of the extremities	7543	ZFX	OMIM:301118
HP:0009815	Aplasia/hypoplasia of the extremities	7227	TRPS1	OMIM:190351
HP:0009815	Aplasia/hypoplasia of the extremities	78987	CRELD1	OMIM:620771
HP:0009815	Aplasia/hypoplasia of the extremities	3480	IGF1R	OMIM:270450
HP:0009815	Aplasia/hypoplasia of the extremities	3762	KCNJ5	ORPHA:37553
HP:0009815	Aplasia/hypoplasia of the extremities	84181	CHD6	ORPHA:2108
HP:0009815	Aplasia/hypoplasia of the extremities	1281	COL3A1	ORPHA:2500
HP:0009815	Aplasia/hypoplasia of the extremities	10075	HUWE1	OMIM:309590
HP:0009815	Aplasia/hypoplasia of the extremities	59344	ALOXE3	OMIM:242100
HP:0009815	Aplasia/hypoplasia of the extremities	242	ALOX12B	OMIM:242100
HP:0009815	Aplasia/hypoplasia of the extremities	7840	ALMS1	ORPHA:64
HP:0009815	Aplasia/hypoplasia of the extremities	5896	RAG1	ORPHA:39041
HP:0009815	Aplasia/hypoplasia of the extremities	5897	RAG2	ORPHA:39041
HP:0009815	Aplasia/hypoplasia of the extremities	64421	DCLRE1C	ORPHA:39041
HP:0009815	Aplasia/hypoplasia of the extremities	100	ADA	ORPHA:39041
HP:0009815	Aplasia/hypoplasia of the extremities	3575	IL7R	ORPHA:39041
HP:0009815	Aplasia/hypoplasia of the extremities	3561	IL2RG	ORPHA:39041
HP:0009815	Aplasia/hypoplasia of the extremities	1788	DNMT3A	ORPHA:404443
HP:0009815	Aplasia/hypoplasia of the extremities	55027	HEATR3	OMIM:620072
HP:0009815	Aplasia/hypoplasia of the extremities	55650	PIGV	OMIM:239300
HP:0009815	Aplasia/hypoplasia of the extremities	427	ASAH1	ORPHA:333
HP:0009815	Aplasia/hypoplasia of the extremities	3039	HBA1	ORPHA:98791
HP:0009815	Aplasia/hypoplasia of the extremities	3040	HBA2	ORPHA:98791
HP:0009815	Aplasia/hypoplasia of the extremities	84295	PHF6	OMIM:301900
HP:0009815	Aplasia/hypoplasia of the extremities	84295	PHF6	ORPHA:127
HP:0009815	Aplasia/hypoplasia of the extremities	8481	OFD1	ORPHA:2750
HP:0009815	Aplasia/hypoplasia of the extremities	50945	TBX22	ORPHA:921
HP:0009815	Aplasia/hypoplasia of the extremities	55697	VAC14	ORPHA:3472
HP:0009815	Aplasia/hypoplasia of the extremities	375056	MIA3	OMIM:619269
HP:0009815	Aplasia/hypoplasia of the extremities	57178	ZMIZ1	OMIM:618659
HP:0009815	Aplasia/hypoplasia of the extremities	4613	MYCN	OMIM:164280
HP:0009815	Aplasia/hypoplasia of the extremities	4853	NOTCH2	ORPHA:955
HP:0009815	Aplasia/hypoplasia of the extremities	2313	FLI1	ORPHA:2308
HP:0009815	Aplasia/hypoplasia of the extremities	5281	PIGF	OMIM:619356
HP:0009815	Aplasia/hypoplasia of the extremities	415	ARSL	ORPHA:79345
HP:0009815	Aplasia/hypoplasia of the extremities	3756	KCNH1	OMIM:135500
HP:0009815	Aplasia/hypoplasia of the extremities	1327	COX4I1	OMIM:619060
HP:0009815	Aplasia/hypoplasia of the extremities	113246	C12orf57	OMIM:218340
HP:0009815	Aplasia/hypoplasia of the extremities	8626	TP63	OMIM:605289
HP:0009815	Aplasia/hypoplasia of the extremities	5573	PRKAR1A	ORPHA:950
HP:0009815	Aplasia/hypoplasia of the extremities	5144	PDE4D	ORPHA:950
HP:0009815	Aplasia/hypoplasia of the extremities	4921	DDR2	OMIM:271665
HP:0009815	Aplasia/hypoplasia of the extremities	176	ACAN	ORPHA:93283
HP:0009815	Aplasia/hypoplasia of the extremities	28981	IFT81	OMIM:617895
HP:0009815	Aplasia/hypoplasia of the extremities	9820	CUL7	ORPHA:2616
HP:0009815	Aplasia/hypoplasia of the extremities	23363	OBSL1	ORPHA:2616
HP:0009815	Aplasia/hypoplasia of the extremities	83987	CCDC8	ORPHA:2616
HP:0009815	Aplasia/hypoplasia of the extremities	145173	B3GLCT	ORPHA:709
HP:0009815	Aplasia/hypoplasia of the extremities	118429	ANTXR2	ORPHA:2176
HP:0009815	Aplasia/hypoplasia of the extremities	55733	HHAT	OMIM:600092
HP:0009815	Aplasia/hypoplasia of the extremities	55733	HHAT	ORPHA:1422
HP:0009815	Aplasia/hypoplasia of the extremities	3636	INPPL1	ORPHA:3144
HP:0009815	Aplasia/hypoplasia of the extremities	5745	PTH1R	OMIM:215045
HP:0009815	Aplasia/hypoplasia of the extremities	5745	PTH1R	ORPHA:296
HP:0009815	Aplasia/hypoplasia of the extremities	55112	DYNC2I1	ORPHA:93271
HP:0009815	Aplasia/hypoplasia of the extremities	55112	DYNC2I1	ORPHA:474
HP:0009815	Aplasia/hypoplasia of the extremities	57560	IFT80	ORPHA:93271
HP:0009815	Aplasia/hypoplasia of the extremities	57560	IFT80	ORPHA:474
HP:0009815	Aplasia/hypoplasia of the extremities	57539	WDR35	ORPHA:93271
HP:0009815	Aplasia/hypoplasia of the extremities	57539	WDR35	OMIM:614091
HP:0009815	Aplasia/hypoplasia of the extremities	79659	DYNC2H1	ORPHA:93271
HP:0009815	Aplasia/hypoplasia of the extremities	79659	DYNC2H1	ORPHA:474
HP:0009815	Aplasia/hypoplasia of the extremities	89891	DYNC2I2	ORPHA:93271
HP:0009815	Aplasia/hypoplasia of the extremities	89891	DYNC2I2	ORPHA:474
HP:0009815	Aplasia/hypoplasia of the extremities	249	ALPL	OMIM:241500
HP:0009815	Aplasia/hypoplasia of the extremities	55790	CSGALNACT1	OMIM:618870
HP:0009815	Aplasia/hypoplasia of the extremities	22858	CILK1	OMIM:612651
HP:0009815	Aplasia/hypoplasia of the extremities	4038	LRP4	ORPHA:3258
HP:0009815	Aplasia/hypoplasia of the extremities	324	APC	ORPHA:3258
HP:0009815	Aplasia/hypoplasia of the extremities	56975	FAM20C	OMIM:259775
HP:0009815	Aplasia/hypoplasia of the extremities	2263	FGFR2	ORPHA:87
HP:0009815	Aplasia/hypoplasia of the extremities	3418	IDH2	ORPHA:296
HP:0009815	Aplasia/hypoplasia of the extremities	3417	IDH1	ORPHA:296
HP:0009815	Aplasia/hypoplasia of the extremities	6023	RMRP	ORPHA:175
HP:0009815	Aplasia/hypoplasia of the extremities	4318	MMP9	OMIM:613073
HP:0009815	Aplasia/hypoplasia of the extremities	60	ACTB	ORPHA:79107
HP:0009815	Aplasia/hypoplasia of the extremities	60	ACTB	ORPHA:64755
HP:0009815	Aplasia/hypoplasia of the extremities	22827	PUF60	ORPHA:508488
HP:0009815	Aplasia/hypoplasia of the extremities	1717	DHCR7	OMIM:270400
HP:0009815	Aplasia/hypoplasia of the extremities	2735	GLI1	ORPHA:289
HP:0009815	Aplasia/hypoplasia of the extremities	2121	EVC	ORPHA:289
HP:0009815	Aplasia/hypoplasia of the extremities	51626	DYNC2LI1	ORPHA:289
HP:0009815	Aplasia/hypoplasia of the extremities	51626	DYNC2LI1	ORPHA:474
HP:0009815	Aplasia/hypoplasia of the extremities	132884	EVC2	ORPHA:289
HP:0009815	Aplasia/hypoplasia of the extremities	2752	GLUL	OMIM:610015
HP:0009815	Aplasia/hypoplasia of the extremities	1301	COL11A1	ORPHA:2021
HP:0009815	Aplasia/hypoplasia of the extremities	1301	COL11A1	ORPHA:440354
HP:0009815	Aplasia/hypoplasia of the extremities	29980	DONSON	OMIM:251230
HP:0009815	Aplasia/hypoplasia of the extremities	23476	BRD4	ORPHA:199
HP:0009815	Aplasia/hypoplasia of the extremities	9126	SMC3	ORPHA:199
HP:0009815	Aplasia/hypoplasia of the extremities	8243	SMC1A	ORPHA:199
HP:0009815	Aplasia/hypoplasia of the extremities	6878	TAF6	ORPHA:199
HP:0009815	Aplasia/hypoplasia of the extremities	55869	HDAC8	ORPHA:199
HP:0009815	Aplasia/hypoplasia of the extremities	5885	RAD21	ORPHA:199
HP:0009815	Aplasia/hypoplasia of the extremities	9851	KIAA0753	ORPHA:474
HP:0009815	Aplasia/hypoplasia of the extremities	26160	IFT172	ORPHA:474
HP:0009815	Aplasia/hypoplasia of the extremities	153241	CEP120	ORPHA:474
HP:0009815	Aplasia/hypoplasia of the extremities	9742	IFT140	ORPHA:474
HP:0009815	Aplasia/hypoplasia of the extremities	57728	WDR19	ORPHA:474
HP:0009815	Aplasia/hypoplasia of the extremities	79809	TTC21B	ORPHA:474
HP:0009815	Aplasia/hypoplasia of the extremities	9321	TRIP11	ORPHA:166272
HP:0009815	Aplasia/hypoplasia of the extremities	9321	TRIP11	OMIM:184260
HP:0009815	Aplasia/hypoplasia of the extremities	9321	TRIP11	OMIM:200600
HP:0009815	Aplasia/hypoplasia of the extremities	9321	TRIP11	ORPHA:93299
HP:0009815	Aplasia/hypoplasia of the extremities	1857	DVL3	ORPHA:3107
HP:0009815	Aplasia/hypoplasia of the extremities	7474	WNT5A	ORPHA:3107
HP:0009815	Aplasia/hypoplasia of the extremities	1855	DVL1	ORPHA:3107
HP:0009815	Aplasia/hypoplasia of the extremities	2535	FZD2	ORPHA:3107
HP:0009815	Aplasia/hypoplasia of the extremities	6608	SMO	OMIM:241800
HP:0009815	Aplasia/hypoplasia of the extremities	8200	GDF5	ORPHA:2098
HP:0009815	Aplasia/hypoplasia of the extremities	8200	GDF5	ORPHA:2639
HP:0009815	Aplasia/hypoplasia of the extremities	1718	DHCR24	ORPHA:35107
HP:0009815	Aplasia/hypoplasia of the extremities	112752	IFT43	OMIM:617866
HP:0009815	Aplasia/hypoplasia of the extremities	1806	DPYD	ORPHA:1675
HP:0009815	Aplasia/hypoplasia of the extremities	1028	CDKN1C	ORPHA:85173
HP:0009815	Aplasia/hypoplasia of the extremities	5426	POLE	ORPHA:85173
HP:0009815	Aplasia/hypoplasia of the extremities	9786	KIAA0586	OMIM:616546
HP:0009815	Aplasia/hypoplasia of the extremities	3977	LIFR	ORPHA:3206
HP:0009815	Aplasia/hypoplasia of the extremities	59341	TRPV4	ORPHA:2635
HP:0009815	Aplasia/hypoplasia of the extremities	10491	CRTAP	OMIM:610682
HP:0009815	Aplasia/hypoplasia of the extremities	5116	PCNT	ORPHA:2637
HP:0009815	Aplasia/hypoplasia of the extremities	51594	NBAS	OMIM:614800
HP:0009815	Aplasia/hypoplasia of the extremities	26123	TCTN3	ORPHA:2753
HP:0009815	Aplasia/hypoplasia of the extremities	6473	SHOX	ORPHA:2632
HP:0009815	Aplasia/hypoplasia of the extremities	6473	SHOX	ORPHA:240
HP:0009815	Aplasia/hypoplasia of the extremities	10082	GPC6	ORPHA:93329
HP:0009815	Aplasia/hypoplasia of the extremities	51025	PAM16	OMIM:613320
HP:0009815	Aplasia/hypoplasia of the extremities	219844	HYLS1	ORPHA:2189
HP:0009815	Aplasia/hypoplasia of the extremities	374654	KIF7	ORPHA:2189
HP:0009815	Aplasia/hypoplasia of the extremities	871	SERPINH1	OMIM:613848
HP:0009815	Aplasia/hypoplasia of the extremities	9935	MAFB	ORPHA:233
HP:0009815	Aplasia/hypoplasia of the extremities	1123	CHN1	ORPHA:233
HP:0009815	Aplasia/hypoplasia of the extremities	6154	RPL26	OMIM:614900
HP:0009815	Aplasia/hypoplasia of the extremities	55159	RFWD3	OMIM:617784
HP:0009815	Aplasia/hypoplasia of the extremities	1723	DHODH	OMIM:263750
HP:0009815	Aplasia/hypoplasia of the extremities	1723	DHODH	ORPHA:246
HP:0009815	Aplasia/hypoplasia of the extremities	55215	FANCI	OMIM:609053
HP:0009815	Aplasia/hypoplasia of the extremities	92002	CCNQ	ORPHA:140952
HP:0009815	Aplasia/hypoplasia of the extremities	2255	FGF10	ORPHA:2363
HP:0009815	Aplasia/hypoplasia of the extremities	79728	PALB2	OMIM:610832
HP:0009815	Aplasia/hypoplasia of the extremities	2187	FANCB	ORPHA:3412
HP:0009815	Aplasia/hypoplasia of the extremities	2188	FANCF	OMIM:603467
HP:0009815	Aplasia/hypoplasia of the extremities	5889	RAD51C	OMIM:613390
HP:0009815	Aplasia/hypoplasia of the extremities	84464	SLX4	OMIM:613951
HP:0009815	Aplasia/hypoplasia of the extremities	6223	RPS19	OMIM:105650
HP:0009815	Aplasia/hypoplasia of the extremities	6926	TBX3	OMIM:181450
HP:0009815	Aplasia/hypoplasia of the extremities	7516	XRCC2	OMIM:617247
HP:0009815	Aplasia/hypoplasia of the extremities	8241	RBM10	OMIM:311900
HP:0009815	Aplasia/hypoplasia of the extremities	139285	AMER1	OMIM:300373
HP:0009815	Aplasia/hypoplasia of the extremities	23233	EXOC6B	OMIM:618395
HP:0009815	Aplasia/hypoplasia of the extremities	182	JAG1	OMIM:118450
HP:0009815	Aplasia/hypoplasia of the extremities	57020	VPS35L	OMIM:619135
HP:0009815	Aplasia/hypoplasia of the extremities	672	BRCA1	ORPHA:84
HP:0009815	Aplasia/hypoplasia of the extremities	10459	MAD2L2	ORPHA:84
HP:0009815	Aplasia/hypoplasia of the extremities	29089	UBE2T	ORPHA:84
HP:0009815	Aplasia/hypoplasia of the extremities	675	BRCA2	ORPHA:84
HP:0009815	Aplasia/hypoplasia of the extremities	55120	FANCL	ORPHA:84
HP:0009815	Aplasia/hypoplasia of the extremities	2177	FANCD2	ORPHA:84
HP:0009815	Aplasia/hypoplasia of the extremities	2175	FANCA	ORPHA:84
HP:0009815	Aplasia/hypoplasia of the extremities	2176	FANCC	ORPHA:84
HP:0009815	Aplasia/hypoplasia of the extremities	2178	FANCE	ORPHA:84
HP:0009815	Aplasia/hypoplasia of the extremities	2189	FANCG	ORPHA:84
HP:0009815	Aplasia/hypoplasia of the extremities	5888	RAD51	ORPHA:84
HP:0009815	Aplasia/hypoplasia of the extremities	83990	BRIP1	ORPHA:84
HP:0009815	Aplasia/hypoplasia of the extremities	57697	FANCM	ORPHA:84
HP:0009815	Aplasia/hypoplasia of the extremities	2072	ERCC4	ORPHA:84
HP:0009815	Aplasia/hypoplasia of the extremities	567	B2M	OMIM:241600
HP:0009815	Aplasia/hypoplasia of the extremities	55636	CHD7	OMIM:214800
HP:0009815	Aplasia/hypoplasia of the extremities	5593	PRKG2	OMIM:619636
HP:0009815	Aplasia/hypoplasia of the extremities	4920	ROR2	OMIM:268310
HP:0009815	Aplasia/hypoplasia of the extremities	4920	ROR2	ORPHA:1507
HP:0009815	Aplasia/hypoplasia of the extremities	23387	SIK3	OMIM:618162
HP:0009815	Aplasia/hypoplasia of the extremities	3899	AFF3	OMIM:619297
HP:0009815	Aplasia/hypoplasia of the extremities	64359	NXN	OMIM:618529
HP:0009815	Aplasia/hypoplasia of the extremities	64359	NXN	ORPHA:1507
HP:0009815	Aplasia/hypoplasia of the extremities	90993	CREB3L1	OMIM:616229
HP:0009815	Aplasia/hypoplasia of the extremities	6913	TBX15	OMIM:260660
HP:0009815	Aplasia/hypoplasia of the extremities	2737	GLI3	OMIM:146510
HP:0009815	Aplasia/hypoplasia of the extremities	27125	AFF4	ORPHA:444077
HP:0009815	Aplasia/hypoplasia of the extremities	6662	SOX9	ORPHA:140
HP:0009815	Aplasia/hypoplasia of the extremities	6662	SOX9	OMIM:114290
HP:0009815	Aplasia/hypoplasia of the extremities	4233	MET	OMIM:607278
HP:0009815	Aplasia/hypoplasia of the extremities	7473	WNT3	OMIM:273395
HP:0009815	Aplasia/hypoplasia of the extremities	7473	WNT3	ORPHA:3301
HP:0009815	Aplasia/hypoplasia of the extremities	10804	GJB6	ORPHA:477
HP:0009815	Aplasia/hypoplasia of the extremities	2706	GJB2	ORPHA:477
HP:0009815	Aplasia/hypoplasia of the extremities	4010	LMX1B	ORPHA:2614
HP:0009815	Aplasia/hypoplasia of the extremities	4010	LMX1B	OMIM:161200
HP:0009815	Aplasia/hypoplasia of the extremities	4010	LMX1B	ORPHA:495818
HP:0009815	Aplasia/hypoplasia of the extremities	55148	UBR7	OMIM:619189
HP:0009815	Aplasia/hypoplasia of the extremities	6812	STXBP1	ORPHA:495818
HP:0009815	Aplasia/hypoplasia of the extremities	54496	PRMT7	ORPHA:464288
HP:0009815	Aplasia/hypoplasia of the extremities	64682	ANAPC1	ORPHA:221008
HP:0009815	Aplasia/hypoplasia of the extremities	4882	NPR2	OMIM:602875
HP:0009815	Aplasia/hypoplasia of the extremities	4882	NPR2	ORPHA:40
HP:0009815	Aplasia/hypoplasia of the extremities	56992	KIF15	ORPHA:261323
HP:0009815	Aplasia/hypoplasia of the extremities	5879	RAC1	ORPHA:500159
HP:0009815	Aplasia/hypoplasia of the extremities	55768	NGLY1	ORPHA:404454
HP:0009815	Aplasia/hypoplasia of the extremities	9949	AMMECR1	OMIM:300990
HP:0009815	Aplasia/hypoplasia of the extremities	10588	MTHFS	OMIM:618367
HP:0009815	Aplasia/hypoplasia of the extremities	65250	CPLANE1	OMIM:277170
HP:0009815	Aplasia/hypoplasia of the extremities	23483	TGDS	OMIM:616145
HP:0009815	Aplasia/hypoplasia of the extremities	55503	TRPV6	OMIM:618188
HP:0009815	Aplasia/hypoplasia of the extremities	83871	RAB34	OMIM:620718
HP:0009815	Aplasia/hypoplasia of the extremities	815	CAMK2A	OMIM:617798
HP:0009815	Aplasia/hypoplasia of the extremities	1317	SLC31A1	OMIM:620306
HP:0009815	Aplasia/hypoplasia of the extremities	11128	POLR3A	OMIM:264090
HP:0009815	Aplasia/hypoplasia of the extremities	11128	POLR3A	ORPHA:3455
HP:0009815	Aplasia/hypoplasia of the extremities	8802	SUCLG1	ORPHA:17
HP:0009815	Aplasia/hypoplasia of the extremities	8792	TNFRSF11A	OMIM:602080
HP:0009815	Aplasia/hypoplasia of the extremities	9898	UBAP2L	OMIM:620494
HP:0009815	Aplasia/hypoplasia of the extremities	8517	IKBKG	ORPHA:464
HP:0009815	Aplasia/hypoplasia of the extremities	5980	REV3L	ORPHA:570
HP:0009815	Aplasia/hypoplasia of the extremities	1750	DLX6	ORPHA:2440
HP:0009815	Aplasia/hypoplasia of the extremities	7979	SEM1	ORPHA:2440
HP:0009815	Aplasia/hypoplasia of the extremities	8945	BTRC	ORPHA:2440
HP:0009815	Aplasia/hypoplasia of the extremities	58513	EPS15L1	ORPHA:2440
HP:0009815	Aplasia/hypoplasia of the extremities	6468	FBXW4	ORPHA:2440
HP:0009815	Aplasia/hypoplasia of the extremities	7480	WNT10B	ORPHA:2440
HP:0009815	Aplasia/hypoplasia of the extremities	1749	DLX5	ORPHA:2440
HP:0009815	Aplasia/hypoplasia of the extremities	3516	RBPJ	ORPHA:974
HP:0009815	Aplasia/hypoplasia of the extremities	4851	NOTCH1	ORPHA:974
HP:0009815	Aplasia/hypoplasia of the extremities	57514	ARHGAP31	ORPHA:974
HP:0009815	Aplasia/hypoplasia of the extremities	57572	DOCK6	ORPHA:974
HP:0009815	Aplasia/hypoplasia of the extremities	285203	EOGT	ORPHA:974
HP:0009815	Aplasia/hypoplasia of the extremities	54567	DLL4	ORPHA:974
HP:0009815	Aplasia/hypoplasia of the extremities	7021	TFAP2B	ORPHA:46627
HP:0009815	Aplasia/hypoplasia of the extremities	2783	GNB2	OMIM:619503
HP:0009815	Aplasia/hypoplasia of the extremities	5932	RBBP8	OMIM:251255
HP:0009815	Aplasia/hypoplasia of the extremities	613	BCR	ORPHA:261330
HP:0009815	Aplasia/hypoplasia of the extremities	1399	CRKL	ORPHA:261330
HP:0009815	Aplasia/hypoplasia of the extremities	5594	MAPK1	ORPHA:261330
HP:0009815	Aplasia/hypoplasia of the extremities	79639	TMEM53	OMIM:619727
HP:0009815	Aplasia/hypoplasia of the extremities	55249	YY1AP1	ORPHA:79094
HP:0009815	Aplasia/hypoplasia of the extremities	10982	MAPRE2	OMIM:616734
HP:0009815	Aplasia/hypoplasia of the extremities	25782	RAB3GAP2	OMIM:212720
HP:0009815	Aplasia/hypoplasia of the extremities	222663	SCUBE3	OMIM:619184
HP:0009815	Aplasia/hypoplasia of the extremities	80311	KLHL15	OMIM:300982
HP:0009815	Aplasia/hypoplasia of the extremities	55012	PPP2R3C	OMIM:618419
HP:0009815	Aplasia/hypoplasia of the extremities	51715	RAB23	ORPHA:65759
HP:0009815	Aplasia/hypoplasia of the extremities	1954	MEGF8	ORPHA:65759
HP:0009815	Aplasia/hypoplasia of the extremities	64374	SIL1	ORPHA:559
HP:0009815	Aplasia/hypoplasia of the extremities	9244	CRLF1	OMIM:272430
HP:0009815	Aplasia/hypoplasia of the extremities	4000	LMNA	ORPHA:79474
HP:0009815	Aplasia/hypoplasia of the extremities	2254	FGF9	ORPHA:3237
HP:0009815	Aplasia/hypoplasia of the extremities	9791	PTDSS1	ORPHA:2658
HP:0009815	Aplasia/hypoplasia of the extremities	79753	SNIP1	OMIM:614501
HP:0009815	Aplasia/hypoplasia of the extremities	6595	SMARCA2	ORPHA:3051
HP:0009815	Aplasia/hypoplasia of the extremities	285590	SH3PXD2B	OMIM:249420
HP:0009815	Aplasia/hypoplasia of the extremities	7204	TRIO	ORPHA:476126
HP:0009815	Aplasia/hypoplasia of the extremities	3845	KRAS	ORPHA:3339
HP:0009815	Aplasia/hypoplasia of the extremities	28957	MRPS28	OMIM:618958
HP:0009815	Aplasia/hypoplasia of the extremities	23261	CAMTA1	OMIM:614756
HP:0009815	Aplasia/hypoplasia of the extremities	25839	COG4	ORPHA:85172
HP:0009815	Aplasia/hypoplasia of the extremities	6925	TCF4	OMIM:610954
HP:0009815	Aplasia/hypoplasia of the extremities	5295	PIK3R1	ORPHA:3163
HP:0009815	Aplasia/hypoplasia of the extremities	10743	RAI1	OMIM:182290
HP:0009815	Aplasia/hypoplasia of the extremities	89970	RSPRY1	ORPHA:457395
HP:0009815	Aplasia/hypoplasia of the extremities	51322	WAC	ORPHA:466950
HP:0009815	Aplasia/hypoplasia of the extremities	29123	ANKRD11	OMIM:148050
HP:0009815	Aplasia/hypoplasia of the extremities	3094	HINT1	ORPHA:324442
HP:0009815	Aplasia/hypoplasia of the extremities	94005	PIGS	OMIM:618143
HP:0009815	Aplasia/hypoplasia of the extremities	341208	HEPHL1	OMIM:261990
HP:0009815	Aplasia/hypoplasia of the extremities	54585	LZTFL1	OMIM:615994
HP:0009815	Aplasia/hypoplasia of the extremities	55628	ZNF407	OMIM:619557
HP:0009815	Aplasia/hypoplasia of the extremities	2146	EZH2	OMIM:277590
HP:0009815	Aplasia/hypoplasia of the extremities	79633	FAT4	OMIM:615546
HP:0009815	Aplasia/hypoplasia of the extremities	3708	ITPR1	OMIM:206700
HP:0009815	Aplasia/hypoplasia of the extremities	8642	DCHS1	OMIM:601390
HP:0009815	Aplasia/hypoplasia of the extremities	23288	IQCE	OMIM:617642
HP:0009815	Aplasia/hypoplasia of the extremities	2316	FLNA	OMIM:300244
HP:0009815	Aplasia/hypoplasia of the extremities	9775	EIF4A3	OMIM:268305
HP:0009815	Aplasia/hypoplasia of the extremities	57688	ZSWIM6	OMIM:603671
HP:0009815	Aplasia/hypoplasia of the extremities	79848	CSPP1	ORPHA:397715
HP:0009815	Aplasia/hypoplasia of the extremities	171023	ASXL1	OMIM:605039
HP:0009815	Aplasia/hypoplasia of the extremities	91179	SCARF2	OMIM:600920
HP:0009815	Aplasia/hypoplasia of the extremities	374969	SVBP	OMIM:618569
HP:0009815	Aplasia/hypoplasia of the extremities	8936	WASF1	OMIM:618707
HP:0009815	Aplasia/hypoplasia of the extremities	64093	SMOC1	ORPHA:1106
HP:0009815	Aplasia/hypoplasia of the extremities	27152	INTU	OMIM:617925
HP:0009815	Aplasia/hypoplasia of the extremities	727857	BHLHA9	ORPHA:3329
HP:0009815	Aplasia/hypoplasia of the extremities	727857	BHLHA9	ORPHA:1986
HP:0009815	Aplasia/hypoplasia of the extremities	6469	SHH	ORPHA:988
HP:0009815	Aplasia/hypoplasia of the extremities	6628	SNRPB	OMIM:117650
HP:0009815	Aplasia/hypoplasia of the extremities	4982	TNFRSF11B	OMIM:239000
HP:0009815	Aplasia/hypoplasia of the extremities	7547	ZIC3	OMIM:314390
HP:0009815	Aplasia/hypoplasia of the extremities	5830	PEX5	OMIM:616716
HP:0009815	Aplasia/hypoplasia of the extremities	5422	POLA1	OMIM:301030
HP:0009815	Aplasia/hypoplasia of the extremities	652	BMP4	OMIM:607932
HP:0009815	Aplasia/hypoplasia of the extremities	22995	CEP152	OMIM:613823
HP:0009815	Aplasia/hypoplasia of the extremities	55081	IFT57	OMIM:617927
HP:0009815	Aplasia/hypoplasia of the extremities	407975	MIR17HG	ORPHA:391646
HP:0009815	Aplasia/hypoplasia of the extremities	84720	PIGO	ORPHA:247262
HP:0009815	Aplasia/hypoplasia of the extremities	84720	PIGO	OMIM:614749
HP:0009815	Aplasia/hypoplasia of the extremities	93210	PGAP3	ORPHA:247262
HP:0009815	Aplasia/hypoplasia of the extremities	93210	PGAP3	OMIM:615716
HP:0009815	Aplasia/hypoplasia of the extremities	284098	PIGW	ORPHA:247262
HP:0009815	Aplasia/hypoplasia of the extremities	27315	PGAP2	ORPHA:247262
HP:0009815	Aplasia/hypoplasia of the extremities	27315	PGAP2	OMIM:614207
HP:0009815	Aplasia/hypoplasia of the extremities	2972	BRF1	OMIM:616202
HP:0009815	Aplasia/hypoplasia of the extremities	29929	ALG6	ORPHA:79320
HP:0009815	Aplasia/hypoplasia of the extremities	23394	ADNP	OMIM:615873
HP:0009815	Aplasia/hypoplasia of the extremities	5479	PPIB	OMIM:259440
HP:0009815	Aplasia/hypoplasia of the extremities	3911	LAMA5	OMIM:620076
HP:0009815	Aplasia/hypoplasia of the extremities	2767	GNA11	ORPHA:1556
HP:0009815	Aplasia/hypoplasia of the extremities	151188	ARL6IP6	ORPHA:1556
HP:0009815	Aplasia/hypoplasia of the extremities	10013	HDAC6	OMIM:300863
HP:0009815	Aplasia/hypoplasia of the extremities	545	ATR	OMIM:210600
HP:0009815	Aplasia/hypoplasia of the extremities	1146	CHRNG	OMIM:265000
HP:0009815	Aplasia/hypoplasia of the extremities	23522	KAT6B	OMIM:606170
HP:0009815	Aplasia/hypoplasia of the extremities	23522	KAT6B	ORPHA:85201
HP:0009815	Aplasia/hypoplasia of the extremities	81620	CDT1	ORPHA:2554
HP:0009815	Aplasia/hypoplasia of the extremities	81620	CDT1	OMIM:613804
HP:0009815	Aplasia/hypoplasia of the extremities	5000	ORC4	ORPHA:2554
HP:0009815	Aplasia/hypoplasia of the extremities	5000	ORC4	OMIM:613800
HP:0009815	Aplasia/hypoplasia of the extremities	990	CDC6	ORPHA:2554
HP:0009815	Aplasia/hypoplasia of the extremities	990	CDC6	OMIM:613805
HP:0009815	Aplasia/hypoplasia of the extremities	51053	GMNN	ORPHA:2554
HP:0009815	Aplasia/hypoplasia of the extremities	51053	GMNN	OMIM:616835
HP:0009815	Aplasia/hypoplasia of the extremities	9401	RECQL4	ORPHA:221016
HP:0009815	Aplasia/hypoplasia of the extremities	57492	ARID1B	OMIM:135900
HP:0009815	Aplasia/hypoplasia of the extremities	8318	CDC45	OMIM:617063
HP:0009815	Aplasia/hypoplasia of the extremities	4998	ORC1	OMIM:224690
HP:0009815	Aplasia/hypoplasia of the extremities	23594	ORC6	OMIM:613803
HP:0009815	Aplasia/hypoplasia of the extremities	60681	FKBP10	ORPHA:1149
HP:0009815	Aplasia/hypoplasia of the extremities	7140	TNNT3	ORPHA:1147
HP:0009815	Aplasia/hypoplasia of the extremities	4621	MYH3	ORPHA:1147
HP:0009815	Aplasia/hypoplasia of the extremities	7169	TPM2	ORPHA:1147
HP:0009815	Aplasia/hypoplasia of the extremities	7136	TNNI2	ORPHA:1147
HP:0009815	Aplasia/hypoplasia of the extremities	7040	TGFB1	ORPHA:1328
HP:0009815	Aplasia/hypoplasia of the extremities	3239	HOXD13	ORPHA:887
HP:0009815	Aplasia/hypoplasia of the extremities	9555	MACROH2A1	ORPHA:1275
HP:0009815	Aplasia/hypoplasia of the extremities	538	ATP7A	ORPHA:198
HP:0009815	Aplasia/hypoplasia of the extremities	3459	IFNGR1	OMIM:209950
HP:0009815	Aplasia/hypoplasia of the extremities	3425	IDUA	OMIM:607014
HP:0009815	Aplasia/hypoplasia of the extremities	10940	POP1	OMIM:617396
HP:0009815	Aplasia/hypoplasia of the extremities	26146	TRAF3IP1	OMIM:616629
HP:0009815	Aplasia/hypoplasia of the extremities	10586	MAB21L2	OMIM:615877
HP:0009815	Aplasia/hypoplasia of the extremities	755	CFAP410	OMIM:602271
HP:0009815	Aplasia/hypoplasia of the extremities	8540	AGPS	OMIM:600121
HP:0009815	Aplasia/hypoplasia of the extremities	8443	GNPAT	OMIM:222765
HP:0009815	Aplasia/hypoplasia of the extremities	8942	KYNU	OMIM:617661
HP:0009815	Aplasia/hypoplasia of the extremities	114803	MYSM1	OMIM:618116
HP:0009815	Aplasia/hypoplasia of the extremities	55764	IFT122	ORPHA:1515
HP:0009815	Aplasia/hypoplasia of the extremities	55764	IFT122	OMIM:218330
HP:0009815	Aplasia/hypoplasia of the extremities	9382	COG1	OMIM:611209
HP:0009815	Aplasia/hypoplasia of the extremities	9382	COG1	ORPHA:263508
HP:0009815	Aplasia/hypoplasia of the extremities	54808	DYM	OMIM:223800
HP:0009815	Aplasia/hypoplasia of the extremities	54808	DYM	ORPHA:239
HP:0009815	Aplasia/hypoplasia of the extremities	9469	CHST3	ORPHA:263463
HP:0009815	Aplasia/hypoplasia of the extremities	9469	CHST3	OMIM:143095
HP:0009815	Aplasia/hypoplasia of the extremities	9469	CHST3	OMIM:245600
HP:0009815	Aplasia/hypoplasia of the extremities	5191	PEX7	OMIM:215100
HP:0009815	Aplasia/hypoplasia of the extremities	79087	ALG12	OMIM:607143
HP:0009815	Aplasia/hypoplasia of the extremities	372	ARCN1	OMIM:617164
HP:0009815	Aplasia/hypoplasia of the extremities	4297	KMT2A	ORPHA:319182
HP:0009815	Aplasia/hypoplasia of the extremities	2475	MTOR	OMIM:616638
HP:0009815	Aplasia/hypoplasia of the extremities	4322	MMP13	OMIM:602111
HP:0009815	Aplasia/hypoplasia of the extremities	64841	GNPNAT1	OMIM:619598
HP:0009815	Aplasia/hypoplasia of the extremities	91461	PKDCC	OMIM:618821
HP:0009815	Aplasia/hypoplasia of the extremities	145258	GSC	OMIM:602471
HP:0009815	Aplasia/hypoplasia of the extremities	51360	MBTPS2	OMIM:301014
HP:0009815	Aplasia/hypoplasia of the extremities	79796	ALG9	ORPHA:79328
HP:0009815	Aplasia/hypoplasia of the extremities	5130	PCYT1A	ORPHA:85167
HP:0009815	Aplasia/hypoplasia of the extremities	5130	PCYT1A	OMIM:608940
HP:0009815	Aplasia/hypoplasia of the extremities	9702	CEP57	OMIM:614114
HP:0009815	Aplasia/hypoplasia of the extremities	10682	EBP	OMIM:302960
HP:0009815	Aplasia/hypoplasia of the extremities	26229	B3GAT3	OMIM:245600
HP:0009815	Aplasia/hypoplasia of the extremities	81570	CLPB	OMIM:616271
HP:0009815	Aplasia/hypoplasia of the extremities	25886	POC1A	OMIM:614813
HP:0009815	Aplasia/hypoplasia of the extremities	2879	GPX4	OMIM:250220
HP:0009815	Aplasia/hypoplasia of the extremities	6598	SMARCB1	ORPHA:1465
HP:0009815	Aplasia/hypoplasia of the extremities	6659	SOX4	ORPHA:1465
HP:0009815	Aplasia/hypoplasia of the extremities	8289	ARID1A	ORPHA:1465
HP:0009815	Aplasia/hypoplasia of the extremities	5977	DPF2	ORPHA:1465
HP:0009815	Aplasia/hypoplasia of the extremities	6601	SMARCC2	ORPHA:1465
HP:0009815	Aplasia/hypoplasia of the extremities	196528	ARID2	ORPHA:1465
HP:0009815	Aplasia/hypoplasia of the extremities	6605	SMARCE1	ORPHA:1465
HP:0009815	Aplasia/hypoplasia of the extremities	6664	SOX11	ORPHA:1465
HP:0009815	Aplasia/hypoplasia of the extremities	4848	CNOT2	OMIM:618608
HP:0009815	Aplasia/hypoplasia of the extremities	4212	MEIS2	OMIM:600987
HP:0009815	Aplasia/hypoplasia of the extremities	5324	PLAG1	ORPHA:397590
HP:0009815	Aplasia/hypoplasia of the extremities	8091	HMGA2	ORPHA:397590
HP:0009815	Aplasia/hypoplasia of the extremities	2122	MECOM	OMIM:616738
HP:0009815	Aplasia/hypoplasia of the extremities	55605	KIF21A	ORPHA:45358
HP:0009815	Aplasia/hypoplasia of the extremities	347733	TUBB2B	ORPHA:45358
HP:0009815	Aplasia/hypoplasia of the extremities	7846	TUBA1A	ORPHA:45358
HP:0009815	Aplasia/hypoplasia of the extremities	401	PHOX2A	ORPHA:45358
HP:0009815	Aplasia/hypoplasia of the extremities	84570	COL25A1	ORPHA:45358
HP:0009815	Aplasia/hypoplasia of the extremities	8820	HESX1	OMIM:182230
HP:0009815	Aplasia/hypoplasia of the extremities	8820	HESX1	ORPHA:226307
HP:0009815	Aplasia/hypoplasia of the extremities	26154	ABCA12	OMIM:242500
HP:0009815	Aplasia/hypoplasia of the extremities	6134	RPL10	OMIM:300998
HP:0009815	Aplasia/hypoplasia of the extremities	6134	RPL10	ORPHA:459070
HP:0009815	Aplasia/hypoplasia of the extremities	5626	PROP1	ORPHA:226307
HP:0009815	Aplasia/hypoplasia of the extremities	89884	LHX4	ORPHA:226307
HP:0009815	Aplasia/hypoplasia of the extremities	8022	LHX3	ORPHA:226307
HP:0009815	Aplasia/hypoplasia of the extremities	5449	POU1F1	ORPHA:226307
HP:0009815	Aplasia/hypoplasia of the extremities	9578	CDC42BPB	OMIM:619841
HP:0009815	Aplasia/hypoplasia of the extremities	6263	RYR3	OMIM:620310
HP:0009815	Aplasia/hypoplasia of the extremities	444	ASPH	OMIM:601552
HP:0009815	Aplasia/hypoplasia of the extremities	84823	LMNB2	OMIM:619180
HP:0009815	Aplasia/hypoplasia of the extremities	164	AP1G1	OMIM:619467
HP:0009815	Aplasia/hypoplasia of the extremities	5277	PIGA	OMIM:300868
HP:0009815	Aplasia/hypoplasia of the extremities	1134	CHRNA1	OMIM:253290
HP:0009815	Aplasia/hypoplasia of the extremities	1144	CHRND	OMIM:253290
HP:0009815	Aplasia/hypoplasia of the extremities	3736	KCNA1	ORPHA:1934
HP:0009815	Aplasia/hypoplasia of the extremities	9091	PIGQ	ORPHA:1934
HP:0009815	Aplasia/hypoplasia of the extremities	140679	SLC32A1	ORPHA:1934
HP:0009815	Aplasia/hypoplasia of the extremities	2775	GNAO1	ORPHA:1934
HP:0009815	Aplasia/hypoplasia of the extremities	81603	TRIM8	ORPHA:1934
HP:0009815	Aplasia/hypoplasia of the extremities	2902	GRIN1	ORPHA:1934
HP:0009815	Aplasia/hypoplasia of the extremities	79751	SLC25A22	ORPHA:1934
HP:0009815	Aplasia/hypoplasia of the extremities	150094	SIK1	ORPHA:1934
HP:0009815	Aplasia/hypoplasia of the extremities	8573	CASK	ORPHA:1934
HP:0009815	Aplasia/hypoplasia of the extremities	23312	DMXL2	ORPHA:1934
HP:0009815	Aplasia/hypoplasia of the extremities	2917	GRM7	ORPHA:1934
HP:0009815	Aplasia/hypoplasia of the extremities	170302	ARX	ORPHA:1934
HP:0009815	Aplasia/hypoplasia of the extremities	11284	PNKP	ORPHA:1934
HP:0009815	Aplasia/hypoplasia of the extremities	6326	SCN2A	ORPHA:1934
HP:0009815	Aplasia/hypoplasia of the extremities	51227	PIGP	ORPHA:1934
HP:0009815	Aplasia/hypoplasia of the extremities	6324	SCN1B	ORPHA:1934
HP:0009815	Aplasia/hypoplasia of the extremities	4761	NEUROD2	ORPHA:1934
HP:0009815	Aplasia/hypoplasia of the extremities	2019	EN1	OMIM:619218
HP:0009815	Aplasia/hypoplasia of the extremities	2077	ERF	OMIM:617180
HP:0009815	Aplasia/hypoplasia of the extremities	10265	IRX5	OMIM:611174
HP:0009815	Aplasia/hypoplasia of the extremities	5307	PITX1	OMIM:119800
HP:0009815	Aplasia/hypoplasia of the extremities	5925	RB1	ORPHA:1587
HP:0009815	Aplasia/hypoplasia of the extremities	8452	CUL3	OMIM:619239
HP:0009815	Aplasia/hypoplasia of the extremities	6138	RPL15	ORPHA:124
HP:0009815	Aplasia/hypoplasia of the extremities	6224	RPS20	ORPHA:124
HP:0009815	Aplasia/hypoplasia of the extremities	6165	RPL35A	ORPHA:124
HP:0009815	Aplasia/hypoplasia of the extremities	6132	RPL8	ORPHA:124
HP:0009815	Aplasia/hypoplasia of the extremities	6232	RPS27	ORPHA:124
HP:0009815	Aplasia/hypoplasia of the extremities	6160	RPL31	ORPHA:124
HP:0009815	Aplasia/hypoplasia of the extremities	6201	RPS7	ORPHA:124
HP:0009815	Aplasia/hypoplasia of the extremities	6155	RPL27	ORPHA:124
HP:0009815	Aplasia/hypoplasia of the extremities	6234	RPS28	ORPHA:124
HP:0009815	Aplasia/hypoplasia of the extremities	6135	RPL11	ORPHA:124
HP:0009815	Aplasia/hypoplasia of the extremities	6229	RPS24	ORPHA:124
HP:0009815	Aplasia/hypoplasia of the extremities	6125	RPL5	ORPHA:124
HP:0009815	Aplasia/hypoplasia of the extremities	6204	RPS10	ORPHA:124
HP:0009815	Aplasia/hypoplasia of the extremities	2623	GATA1	ORPHA:124
HP:0009815	Aplasia/hypoplasia of the extremities	6133	RPL9	ORPHA:124
HP:0009815	Aplasia/hypoplasia of the extremities	6231	RPS26	ORPHA:124
HP:0009815	Aplasia/hypoplasia of the extremities	11224	RPL35	ORPHA:124
HP:0009815	Aplasia/hypoplasia of the extremities	6218	RPS17	ORPHA:124
HP:0009815	Aplasia/hypoplasia of the extremities	6210	RPS15A	ORPHA:124
HP:0009815	Aplasia/hypoplasia of the extremities	90121	TSR2	ORPHA:124
HP:0009815	Aplasia/hypoplasia of the extremities	6141	RPL18	ORPHA:124
HP:0009815	Aplasia/hypoplasia of the extremities	6235	RPS29	ORPHA:124
HP:0009815	Aplasia/hypoplasia of the extremities	51816	ADA2	ORPHA:124
HP:0009815	Aplasia/hypoplasia of the extremities	23028	KDM1A	OMIM:616728
HP:0009815	Aplasia/hypoplasia of the extremities	23028	KDM1A	ORPHA:477993
HP:0009815	Aplasia/hypoplasia of the extremities	29998	BICRA	OMIM:619325
HP:0009815	Aplasia/hypoplasia of the extremities	54880	BCOR	ORPHA:2712
HP:0009815	Aplasia/hypoplasia of the extremities	7020	TFAP2A	OMIM:113620
HP:0009815	Aplasia/hypoplasia of the extremities	1387	CREBBP	OMIM:180849
HP:0009815	Aplasia/hypoplasia of the extremities	80036	TRPM3	OMIM:620224
HP:0009815	Aplasia/hypoplasia of the extremities	9968	MED12	OMIM:300895
HP:0009815	Aplasia/hypoplasia of the extremities	170691	ADAMTS17	ORPHA:3449
HP:0009815	Aplasia/hypoplasia of the extremities	4053	LTBP2	ORPHA:3449
HP:0009815	Aplasia/hypoplasia of the extremities	81794	ADAMTS10	ORPHA:3449
HP:0009815	Aplasia/hypoplasia of the extremities	26100	WIPI2	OMIM:618453
HP:0009815	Aplasia/hypoplasia of the extremities	2261	FGFR3	OMIM:146000
HP:0009815	Aplasia/hypoplasia of the extremities	1280	COL2A1	ORPHA:485
HP:0009815	Aplasia/hypoplasia of the extremities	3835	KIF22	ORPHA:93360
HP:0009815	Aplasia/hypoplasia of the extremities	7476	WNT7A	OMIM:276820
HP:0009815	Aplasia/hypoplasia of the extremities	9241	NOG	OMIM:186500
HP:0009815	Aplasia/hypoplasia of the extremities	1147	CHUK	OMIM:613630
HP:0009815	Aplasia/hypoplasia of the extremities	9060	PAPSS2	OMIM:612847
HP:0009815	Aplasia/hypoplasia of the extremities	1009	CDH11	ORPHA:1299
HP:0009815	Aplasia/hypoplasia of the extremities	5718	PSMD12	ORPHA:529962
HP:0009815	Aplasia/hypoplasia of the extremities	2186	BPTF	ORPHA:529962
HP:0009815	Aplasia/hypoplasia of the extremities	51604	PIGT	ORPHA:369837
HP:0009815	Aplasia/hypoplasia of the extremities	57167	SALL4	OMIM:147750
HP:0009815	Aplasia/hypoplasia of the extremities	2335	FN1	ORPHA:93315
HP:0009815	Aplasia/hypoplasia of the extremities	1311	COMP	ORPHA:750
HP:0009815	Aplasia/hypoplasia of the extremities	2137	EXTL3	ORPHA:508533
HP:0009815	Aplasia/hypoplasia of the extremities	2137	EXTL3	OMIM:617425
HP:0009815	Aplasia/hypoplasia of the extremities	65992	DDRGK1	OMIM:602557
HP:0009815	Aplasia/hypoplasia of the extremities	65992	DDRGK1	ORPHA:93352
HP:0009815	Aplasia/hypoplasia of the extremities	341640	FREM2	ORPHA:2052
HP:0009815	Aplasia/hypoplasia of the extremities	80144	FRAS1	ORPHA:2052
HP:0009815	Aplasia/hypoplasia of the extremities	23426	GRIP1	ORPHA:2052
HP:0009815	Aplasia/hypoplasia of the extremities	100151683	RNU4ATAC	OMIM:210710
HP:0009815	Aplasia/hypoplasia of the extremities	2778	GNAS	OMIM:166350
HP:0009815	Aplasia/hypoplasia of the extremities	2720	GLB1	OMIM:230600
HP:0009815	Aplasia/hypoplasia of the extremities	90459	ERI1	OMIM:620663
HP:0009815	Aplasia/hypoplasia of the extremities	4796	TONSL	ORPHA:93357
HP:0009815	Aplasia/hypoplasia of the extremities	84992	PIGY	OMIM:616809
HP:0009815	Aplasia/hypoplasia of the extremities	1836	SLC26A2	ORPHA:56304
HP:0009815	Aplasia/hypoplasia of the extremities	1836	SLC26A2	OMIM:256050
HP:0009815	Aplasia/hypoplasia of the extremities	2571	GAD1	OMIM:619124
HP:0009815	Aplasia/hypoplasia of the extremities	2690	GHR	OMIM:262500
HP:0009815	Aplasia/hypoplasia of the extremities	54928	BPNT2	OMIM:614078
HP:0009815	Aplasia/hypoplasia of the extremities	2317	FLNB	ORPHA:1190
HP:0009815	Aplasia/hypoplasia of the extremities	2317	FLNB	OMIM:108720
HP:0009815	Aplasia/hypoplasia of the extremities	51098	IFT52	OMIM:617102
HP:0009815	Aplasia/hypoplasia of the extremities	202018	TAPT1	OMIM:616897
HP:0009815	Aplasia/hypoplasia of the extremities	23169	SLC35D1	OMIM:269250
HP:0009815	Aplasia/hypoplasia of the extremities	388015	RTL1	ORPHA:96334
HP:0009815	Aplasia/hypoplasia of the extremities	8788	DLK1	ORPHA:96334
HP:0009815	Aplasia/hypoplasia of the extremities	55384	MEG3	ORPHA:96334
HP:0009815	Aplasia/hypoplasia of the extremities	10225	CD96	OMIM:211750
HP:0009815	Aplasia/hypoplasia of the extremities	55343	SLC35C1	ORPHA:99843
HP:0009815	Aplasia/hypoplasia of the extremities	1297	COL9A1	ORPHA:166002
HP:0009815	Aplasia/hypoplasia of the extremities	1298	COL9A2	ORPHA:166002
HP:0009815	Aplasia/hypoplasia of the extremities	1299	COL9A3	ORPHA:166002
HP:0009815	Aplasia/hypoplasia of the extremities	4148	MATN3	ORPHA:156728
HP:0009815	Aplasia/hypoplasia of the extremities	1300	COL10A1	ORPHA:174
HP:0009815	Aplasia/hypoplasia of the extremities	5331	PLCB3	OMIM:618961
HP:0009815	Aplasia/hypoplasia of the extremities	2530	FUT8	OMIM:618005
HP:0009815	Aplasia/hypoplasia of the extremities	7518	XRCC4	OMIM:616541
HP:0009815	Aplasia/hypoplasia of the extremities	8218	CLTCL1	ORPHA:453510
HP:0009815	Aplasia/hypoplasia of the extremities	2260	FGFR1	OMIM:166250
HP:0009815	Aplasia/hypoplasia of the extremities	93627	TBCK	OMIM:616900
HP:0009815	Aplasia/hypoplasia of the extremities	93627	TBCK	ORPHA:488632
HP:0009815	Aplasia/hypoplasia of the extremities	1277	COL1A1	OMIM:166210
HP:0009815	Aplasia/hypoplasia of the extremities	1278	COL1A2	OMIM:166210
HP:0009815	Aplasia/hypoplasia of the extremities	64116	SLC39A8	ORPHA:468699
HP:0009815	Aplasia/hypoplasia of the extremities	9361	LONP1	ORPHA:79243
HP:0009815	Aplasia/hypoplasia of the extremities	5160	PDHA1	ORPHA:79243
HP:0009815	Aplasia/hypoplasia of the extremities	27077	B9D1	OMIM:614209
HP:0009815	Aplasia/hypoplasia of the extremities	8813	DPM1	ORPHA:79322
HP:0009815	Aplasia/hypoplasia of the extremities	1302	COL11A2	ORPHA:1427
HP:0009815	Aplasia/hypoplasia of the extremities	4750	NEK1	ORPHA:2751
HP:0009815	Aplasia/hypoplasia of the extremities	51199	NIN	ORPHA:319675
HP:0009815	Aplasia/hypoplasia of the extremities	3339	HSPG2	ORPHA:1865
HP:0009815	Aplasia/hypoplasia of the extremities	658	BMPR1B	OMIM:609441
HP:0009815	Aplasia/hypoplasia of the extremities	2131	EXT1	ORPHA:321
HP:0009815	Aplasia/hypoplasia of the extremities	2132	EXT2	ORPHA:321
HP:0009815	Aplasia/hypoplasia of the extremities	3549	IHH	OMIM:607778
HP:0009815	Aplasia/hypoplasia of the extremities	9509	ADAMTS2	OMIM:225410
HP:0009815	Aplasia/hypoplasia of the extremities	54101	RIPK4	OMIM:263650
HP:0009815	Aplasia/hypoplasia of the extremities	5566	PRKACA	OMIM:619142
HP:0009815	Aplasia/hypoplasia of the extremities	5567	PRKACB	OMIM:619143
HP:0009815	Aplasia/hypoplasia of the extremities	3930	LBR	OMIM:618019
HP:0009815	Aplasia/hypoplasia of the extremities	54	ACP5	ORPHA:1855
HP:0009815	Aplasia/hypoplasia of the extremities	4054	LTBP3	OMIM:617809
HP:0009815	Aplasia/hypoplasia of the extremities	26227	PHGDH	OMIM:256520
HP:0009815	Aplasia/hypoplasia of the extremities	340419	RSPO2	OMIM:618021
HP:0009815	Aplasia/hypoplasia of the extremities	9496	TBX4	OMIM:601360
HP:0009815	Aplasia/hypoplasia of the extremities	64327	LMBR1	OMIM:200500
HP:0009815	Aplasia/hypoplasia of the extremities	157570	ESCO2	OMIM:268300
HP:0009815	Aplasia/hypoplasia of the extremities	157570	ESCO2	ORPHA:3103
HP:0009815	Aplasia/hypoplasia of the extremities	6910	TBX5	OMIM:142900
HP:0009815	Aplasia/hypoplasia of the extremities	6910	TBX5	ORPHA:392
HP:0009815	Aplasia/hypoplasia of the extremities	10262	SF3B4	ORPHA:245
HP:0009815	Aplasia/hypoplasia of the extremities	25836	NIPBL	OMIM:122470
HP:0009815	Aplasia/hypoplasia of the extremities	9939	RBM8A	ORPHA:3320
HP:0009815	Aplasia/hypoplasia of the extremities	9939	RBM8A	OMIM:274000
HP:0009815	Aplasia/hypoplasia of the extremities	9488	PIGB	OMIM:618580
HP:0009815	Aplasia/hypoplasia of the extremities	10617	STAMBP	OMIM:614261
HP:0009815	Aplasia/hypoplasia of the extremities	51412	ACTL6B	OMIM:618470
HP:0009815	Aplasia/hypoplasia of the extremities	10269	ZMPSTE24	ORPHA:90154
HP:0009815	Aplasia/hypoplasia of the extremities	29957	SLC25A24	ORPHA:2963
HP:0009815	Aplasia/hypoplasia of the extremities	29957	SLC25A24	ORPHA:2095
HP:0009815	Aplasia/hypoplasia of the extremities	29957	SLC25A24	OMIM:612289
HP:0009815	Aplasia/hypoplasia of the extremities	4784	NFIX	OMIM:602535
HP:0009815	Aplasia/hypoplasia of the extremities	24140	FTSJ1	OMIM:309549
HP:0009815	Aplasia/hypoplasia of the extremities	9419	CRIPT	OMIM:615789
HP:0009815	Aplasia/hypoplasia of the extremities	2677	GGCX	OMIM:277450
HP:0009815	Aplasia/hypoplasia of the extremities	26137	ZBTB20	OMIM:259050
HP:0009815	Aplasia/hypoplasia of the extremities	60401	EDA2R	ORPHA:181
HP:0009815	Aplasia/hypoplasia of the extremities	1896	EDA	ORPHA:181
HP:0009815	Aplasia/hypoplasia of the extremities	28952	CCDC22	OMIM:300963
HP:0009815	Aplasia/hypoplasia of the extremities	1186	CLCN7	ORPHA:53
HP:0009815	Aplasia/hypoplasia of the extremities	2703	GJA8	OMIM:612474
HP:0009815	Aplasia/hypoplasia of the extremities	2702	GJA5	OMIM:612474
HP:0009815	Aplasia/hypoplasia of the extremities	865	CBFB	OMIM:620099
HP:0009815	Aplasia/hypoplasia of the extremities	26040	SETBP1	OMIM:269150
HP:0009815	Aplasia/hypoplasia of the extremities	26040	SETBP1	ORPHA:798
HP:0009815	Aplasia/hypoplasia of the extremities	55612	FERMT1	ORPHA:2908
HP:0009815	Aplasia/hypoplasia of the extremities	26224	FBXL3	OMIM:606220
HP:0009815	Aplasia/hypoplasia of the extremities	5727	PTCH1	OMIM:109400
HP:0009815	Aplasia/hypoplasia of the extremities	8823	FGF16	OMIM:309630
HP:0009815	Aplasia/hypoplasia of the extremities	1763	DNA2	OMIM:620819
HP:0009815	Aplasia/hypoplasia of the extremities	5447	POR	ORPHA:95699
HP:0009815	Aplasia/hypoplasia of the extremities	149775	GNAS-AS1	OMIM:603233
HP:0009815	Aplasia/hypoplasia of the extremities	8675	STX16	OMIM:603233
HP:0009815	Aplasia/hypoplasia of the extremities	117581	TWIST2	OMIM:200110
HP:0009815	Aplasia/hypoplasia of the extremities	10686	CLDN16	OMIM:248250
HP:0009815	Aplasia/hypoplasia of the extremities	10847	SRCAP	ORPHA:2044
HP:0009815	Aplasia/hypoplasia of the extremities	64175	P3H1	OMIM:610915
HP:0009815	Aplasia/hypoplasia of the extremities	6197	RPS6KA3	OMIM:303600
HP:0009815	Aplasia/hypoplasia of the extremities	6197	RPS6KA3	ORPHA:192
HP:0009815	Aplasia/hypoplasia of the extremities	5139	PDE3A	OMIM:112410
HP:0009815	Aplasia/hypoplasia of the extremities	5139	PDE3A	ORPHA:1276
HP:0009815	Aplasia/hypoplasia of the extremities	10283	CWC27	OMIM:250410
HP:0009815	Aplasia/hypoplasia of the extremities	10283	CWC27	ORPHA:166035
HP:0009815	Aplasia/hypoplasia of the extremities	4810	NHS	ORPHA:627
HP:0009815	Aplasia/hypoplasia of the extremities	55252	ASXL2	OMIM:617190
HP:0009815	Aplasia/hypoplasia of the extremities	5264	PHYH	ORPHA:773
HP:0009815	Aplasia/hypoplasia of the extremities	5498	PPOX	OMIM:620483
HP:0009815	Aplasia/hypoplasia of the extremities	25871	NEPRO	OMIM:618853
HP:0009815	Aplasia/hypoplasia of the extremities	90	ACVR1	ORPHA:337
HP:0009815	Aplasia/hypoplasia of the extremities	7291	TWIST1	OMIM:101400
HP:0009815	Aplasia/hypoplasia of the extremities	2033	EP300	OMIM:613684
HP:0009815	Aplasia/hypoplasia of the extremities	3209	HOXA13	OMIM:140000
HP:0009815	Aplasia/hypoplasia of the extremities	3209	HOXA13	ORPHA:2438
HP:0009815	Aplasia/hypoplasia of the extremities	50515	CHST11	OMIM:618167
HP:0009815	Aplasia/hypoplasia of the extremities	4256	MGP	OMIM:245150
HP:0009815	Aplasia/hypoplasia of the extremities	7994	KAT6A	OMIM:616268
HP:0009815	Aplasia/hypoplasia of the extremities	6091	ROBO1	OMIM:620305
HP:0009815	Aplasia/hypoplasia of the extremities	10060	ABCC9	OMIM:239850
HP:0009815	Aplasia/hypoplasia of the extremities	10060	ABCC9	ORPHA:1517
HP:0009815	Aplasia/hypoplasia of the extremities	10815	CPLX1	ORPHA:280
HP:0009815	Aplasia/hypoplasia of the extremities	10815	CPLX1	OMIM:194190
HP:0009815	Aplasia/hypoplasia of the extremities	54872	PIGG	ORPHA:280
HP:0009815	Aplasia/hypoplasia of the extremities	7469	NELFA	ORPHA:280
HP:0009815	Aplasia/hypoplasia of the extremities	1487	CTBP1	ORPHA:280
HP:0009815	Aplasia/hypoplasia of the extremities	1487	CTBP1	OMIM:194190
HP:0009815	Aplasia/hypoplasia of the extremities	3954	LETM1	ORPHA:280
HP:0009815	Aplasia/hypoplasia of the extremities	3954	LETM1	OMIM:194190
HP:0009815	Aplasia/hypoplasia of the extremities	7468	NSD2	ORPHA:280
HP:0009815	Aplasia/hypoplasia of the extremities	7468	NSD2	OMIM:194190
HP:0009815	Aplasia/hypoplasia of the extremities	53834	FGFRL1	OMIM:194190
HP:0009815	Aplasia/hypoplasia of the extremities	3764	KCNJ8	ORPHA:1517
HP:0009815	Aplasia/hypoplasia of the extremities	7175	TPR	OMIM:620393
HP:0009815	Aplasia/hypoplasia of the extremities	526	ATP6V1B2	ORPHA:79500
HP:0009815	Aplasia/hypoplasia of the extremities	57465	TBC1D24	ORPHA:79500
HP:0009815	Aplasia/hypoplasia of the extremities	51776	MAP3K20	ORPHA:488232
HP:0009815	Aplasia/hypoplasia of the extremities	3782	KCNN3	OMIM:618658
HP:0009815	Aplasia/hypoplasia of the extremities	64840	PORCN	OMIM:305600
HP:0009815	Aplasia/hypoplasia of the extremities	253738	EBF3	ORPHA:96148
HP:0009815	Aplasia/hypoplasia of the extremities	6299	SALL1	OMIM:107480
HP:0009815	Aplasia/hypoplasia of the extremities	5744	PTHLH	OMIM:613382
HP:0009815	Aplasia/hypoplasia of the extremities	5744	PTHLH	ORPHA:93387
HP:0009815	Aplasia/hypoplasia of the extremities	157680	VPS13B	OMIM:216550
HP:0009815	Aplasia/hypoplasia of the extremities	9896	FIG4	OMIM:216340
HP:0009815	Aplasia/hypoplasia of the extremities	83452	RAB33B	OMIM:615222
HP:0009815	Aplasia/hypoplasia of the extremities	6736	SRY	ORPHA:1772
HP:0009815	Aplasia/hypoplasia of the extremities	90417	KNSTRN	OMIM:613328
HP:0009815	Aplasia/hypoplasia of the extremities	5293	PIK3CD	OMIM:613328
HP:0009815	Aplasia/hypoplasia of the extremities	79971	WLS	OMIM:619648
HP:0009815	Aplasia/hypoplasia of the extremities	50814	NSDHL	OMIM:308050
HP:0009815	Aplasia/hypoplasia of the extremities	51339	DACT1	ORPHA:857
HP:0009815	Aplasia/hypoplasia of the extremities	1513	CTSK	ORPHA:763
HP:0009815	Aplasia/hypoplasia of the extremities	7355	SLC35A2	ORPHA:356961
HP:0009815	Aplasia/hypoplasia of the extremities	6899	TBX1	ORPHA:3384
HP:0009815	Aplasia/hypoplasia of the extremities	137814	NKX2-6	ORPHA:3384
HP:0009815	Aplasia/hypoplasia of the extremities	23129	PLXND1	ORPHA:3384
HP:0009815	Aplasia/hypoplasia of the extremities	6597	SMARCA4	OMIM:614609
HP:0009815	Aplasia/hypoplasia of the extremities	3265	HRAS	ORPHA:2874
HP:0009815	Aplasia/hypoplasia of the extremities	6399	TRAPPC2	ORPHA:93284
HP:0009815	Aplasia/hypoplasia of the extremities	6399	TRAPPC2	OMIM:313400
HP:0009815	Aplasia/hypoplasia of the extremities	9131	AIFM1	OMIM:300232
HP:0009815	Aplasia/hypoplasia of the extremities	91147	TMEM67	OMIM:602152
HP:0009815	Aplasia/hypoplasia of the extremities	8720	MBTPS1	OMIM:618392
HP:0009815	Aplasia/hypoplasia of the extremities	10651	MTX2	OMIM:619127
HP:0009815	Aplasia/hypoplasia of the extremities	8838	CCN6	ORPHA:1159
HP:0009815	Aplasia/hypoplasia of the extremities	10216	PRG4	ORPHA:2848
HP:0009815	Aplasia/hypoplasia of the extremities	126792	B3GALT6	OMIM:271640
HP:0009815	Aplasia/hypoplasia of the extremities	84068	SLC10A7	OMIM:618363
HP:0009815	Aplasia/hypoplasia of the extremities	5286	PIK3C2A	OMIM:618440
HP:0009815	Aplasia/hypoplasia of the extremities	1108	CHD4	OMIM:617159
HP:0009815	Aplasia/hypoplasia of the extremities	54187	NANS	OMIM:610442
HP:0009815	Aplasia/hypoplasia of the extremities	91252	SLC39A13	ORPHA:157965
HP:0009815	Aplasia/hypoplasia of the extremities	91252	SLC39A13	OMIM:612350
HP:0009815	Aplasia/hypoplasia of the extremities	860	RUNX2	OMIM:119600
HP:0009815	Aplasia/hypoplasia of the extremities	80169	CTC1	OMIM:612199
HP:0009815	Aplasia/hypoplasia of the extremities	1947	EFNB1	OMIM:304110
HP:0009815	Aplasia/hypoplasia of the extremities	374879	ZNF699	OMIM:619488
HP:0009815	Aplasia/hypoplasia of the extremities	26128	KIFBP	OMIM:609460
HP:0009815	Aplasia/hypoplasia of the extremities	9698	PUM1	OMIM:617931
HP:0009815	Aplasia/hypoplasia of the extremities	9698	PUM1	OMIM:620719
HP:0009815	Aplasia/hypoplasia of the extremities	781	CACNA2D1	OMIM:620149
HP:0009815	Aplasia/hypoplasia of the extremities	123263	MTFMT	OMIM:614947
HP:0009815	Aplasia/hypoplasia of the extremities	84320	ACBD6	OMIM:620785
HP:0009815	Aplasia/hypoplasia of the extremities	79868	ALG13	OMIM:300884
HP:0009815	Aplasia/hypoplasia of the extremities	55784	MCTP2	ORPHA:1596
HP:0009815	Aplasia/hypoplasia of the extremities	8085	KMT2D	ORPHA:2322
HP:0009815	Aplasia/hypoplasia of the extremities	7403	KDM6A	ORPHA:2322
HP:0009815	Aplasia/hypoplasia of the extremities	3248	HPGD	ORPHA:2796
HP:0009815	Aplasia/hypoplasia of the extremities	6578	SLCO2A1	ORPHA:2796
HP:0009815	Aplasia/hypoplasia of the extremities	7703	PCGF2	OMIM:618371
HP:0009815	Aplasia/hypoplasia of the extremities	1501	CTNND2	ORPHA:281
HP:0009815	Aplasia/hypoplasia of the extremities	9037	SEMA5A	ORPHA:281
HP:0009815	Aplasia/hypoplasia of the extremities	23384	SPECC1L	OMIM:145420
HP:0009815	Aplasia/hypoplasia of the extremities	6602	SMARCD1	OMIM:618779
HP:0009815	Aplasia/hypoplasia of the extremities	1974	EIF4A2	OMIM:620455
HP:0009815	Aplasia/hypoplasia of the extremities	8558	CDK10	OMIM:617694
HP:0009815	Aplasia/hypoplasia of the extremities	3481	IGF2	OMIM:616489
HP:0009815	Aplasia/hypoplasia of the extremities	259232	NALCN	ORPHA:371364
HP:0009815	Aplasia/hypoplasia of the extremities	285175	UNC80	ORPHA:371364
HP:0009815	Aplasia/hypoplasia of the extremities	7486	WRN	ORPHA:902
HP:0009815	Aplasia/hypoplasia of the extremities	4849	CNOT3	OMIM:618672
HP:0009815	Aplasia/hypoplasia of the extremities	388662	SLC6A17	OMIM:616269
HP:0009815	Aplasia/hypoplasia of the extremities	23219	FBXO28	OMIM:619777
HP:0009815	Aplasia/hypoplasia of the extremities	5557	PRIM1	OMIM:620005
HP:0009815	Aplasia/hypoplasia of the extremities	64131	XYLT1	ORPHA:1425
HP:0009815	Aplasia/hypoplasia of the extremities	124583	CANT1	ORPHA:1425
HP:0009815	Aplasia/hypoplasia of the extremities	406932	MIR140	OMIM:618618
HP:0009815	Aplasia/hypoplasia of the extremities	10664	CTCF	OMIM:615502
HP:0009815	Aplasia/hypoplasia of the extremities	1801	DPH1	ORPHA:459061
HP:0009815	Aplasia/hypoplasia of the extremities	1802	DPH2	ORPHA:459061
HP:0002970	Genu varum	1280	COL2A1	OMIM:184255
HP:0002970	Genu varum	1280	COL2A1	ORPHA:93315
HP:0002970	Genu varum	1280	COL2A1	ORPHA:85166
HP:0002970	Genu varum	1280	COL2A1	OMIM:156550
HP:0002970	Genu varum	2335	FN1	OMIM:184255
HP:0002970	Genu varum	2335	FN1	ORPHA:93315
HP:0002970	Genu varum	1311	COMP	ORPHA:750
HP:0002970	Genu varum	1311	COMP	OMIM:177170
HP:0002970	Genu varum	1311	COMP	ORPHA:93308
HP:0002970	Genu varum	1576	CYP3A4	OMIM:619073
HP:0002970	Genu varum	5573	PRKAR1A	ORPHA:950
HP:0002970	Genu varum	5144	PDE4D	ORPHA:950
HP:0002970	Genu varum	4322	MMP13	OMIM:602111
HP:0002970	Genu varum	4322	MMP13	ORPHA:93356
HP:0002970	Genu varum	4322	MMP13	ORPHA:2501
HP:0002970	Genu varum	3835	KIF22	ORPHA:93360
HP:0002970	Genu varum	3835	KIF22	OMIM:603546
HP:0002970	Genu varum	54808	DYM	OMIM:607326
HP:0002970	Genu varum	54808	DYM	OMIM:223800
HP:0002970	Genu varum	65992	DDRGK1	OMIM:602557
HP:0002970	Genu varum	65992	DDRGK1	ORPHA:93352
HP:0002970	Genu varum	7421	VDR	ORPHA:93160
HP:0002970	Genu varum	5251	PHEX	ORPHA:89936
HP:0002970	Genu varum	1300	COL10A1	OMIM:156500
HP:0002970	Genu varum	1300	COL10A1	ORPHA:174
HP:0002970	Genu varum	1594	CYP27B1	ORPHA:289157
HP:0002970	Genu varum	120227	CYP2R1	ORPHA:289157
HP:0002970	Genu varum	579	NKX3-2	OMIM:613330
HP:0002970	Genu varum	8838	CCN6	OMIM:208230
HP:0002970	Genu varum	8838	CCN6	ORPHA:1159
HP:0002970	Genu varum	55325	UFSP2	OMIM:617974
HP:0002970	Genu varum	9401	RECQL4	ORPHA:221016
HP:0002970	Genu varum	5593	PRKG2	OMIM:619636
HP:0002970	Genu varum	11128	POLR3A	OMIM:264090
HP:0002970	Genu varum	2261	FGFR3	ORPHA:429
HP:0002970	Genu varum	2261	FGFR3	OMIM:146000
HP:0002970	Genu varum	2261	FGFR3	OMIM:100800
HP:0002970	Genu varum	59341	TRPV4	ORPHA:93314
HP:0002970	Genu varum	4796	TONSL	OMIM:271510
HP:0002970	Genu varum	4148	MATN3	ORPHA:93311
HP:0002970	Genu varum	1298	COL9A2	OMIM:600204
HP:0002970	Genu varum	1298	COL9A2	ORPHA:166002
HP:0002970	Genu varum	58	ACTA1	ORPHA:171436
HP:0002970	Genu varum	7169	TPM2	ORPHA:171436
HP:0002970	Genu varum	4703	NEB	ORPHA:171436
HP:0002970	Genu varum	10324	KLHL41	ORPHA:171436
HP:0002970	Genu varum	56203	LMOD3	ORPHA:171436
HP:0002970	Genu varum	1073	CFL2	ORPHA:171436
HP:0002970	Genu varum	9321	TRIP11	OMIM:184260
HP:0002970	Genu varum	51715	RAB23	OMIM:201000
HP:0002970	Genu varum	176	ACAN	OMIM:608361
HP:0002970	Genu varum	79631	EFL1	OMIM:617941
HP:0002970	Genu varum	124583	CANT1	OMIM:251450
HP:0002970	Genu varum	124583	CANT1	OMIM:617719
HP:0002970	Genu varum	1297	COL9A1	ORPHA:166002
HP:0002970	Genu varum	1299	COL9A3	ORPHA:166002
HP:0002970	Genu varum	3417	IDH1	ORPHA:99646
HP:0002970	Genu varum	3417	IDH1	ORPHA:296
HP:0002970	Genu varum	284403	WDR62	OMIM:604317
HP:0002970	Genu varum	5745	PTH1R	ORPHA:296
HP:0002970	Genu varum	3418	IDH2	ORPHA:296
HP:0002970	Genu varum	4318	MMP9	OMIM:613073
HP:0002970	Genu varum	3549	IHH	ORPHA:63446
HP:0002970	Genu varum	3549	IHH	OMIM:607778
HP:0002970	Genu varum	1758	DMP1	ORPHA:289176
HP:0002970	Genu varum	5167	ENPP1	ORPHA:289176
HP:0002970	Genu varum	5167	ENPP1	OMIM:613312
HP:0002970	Genu varum	4998	ORC1	OMIM:224690
HP:0002970	Genu varum	4052	LTBP1	OMIM:619451
HP:0002970	Genu varum	7994	KAT6A	OMIM:616268
HP:0002970	Genu varum	6137	RPL13	OMIM:618728
HP:0002970	Genu varum	64131	XYLT1	OMIM:615777
HP:0002970	Genu varum	9675	TTI1	OMIM:620445
HP:0002970	Genu varum	9939	RBM8A	ORPHA:3320
HP:0002970	Genu varum	9939	RBM8A	OMIM:274000
HP:0002970	Genu varum	3248	HPGD	ORPHA:2796
HP:0002970	Genu varum	6578	SLCO2A1	ORPHA:2796
HP:0002970	Genu varum	26123	TCTN3	ORPHA:2753
HP:0002970	Genu varum	6473	SHOX	ORPHA:240
HP:0002970	Genu varum	633	BGN	OMIM:300106
HP:0002970	Genu varum	5442	POLRMT	OMIM:619743
HP:0002970	Genu varum	23594	ORC6	OMIM:613803
HP:0002970	Genu varum	6023	RMRP	OMIM:250460
HP:0002970	Genu varum	64682	ANAPC1	ORPHA:221008
HP:0002971	Absent microvilli on the surface of peripheral blood lymphocytes	7454	WAS	OMIM:301000
HP:0002972	Reduced delayed hypersensitivity	843	CASP10	OMIM:603909
HP:0002972	Reduced delayed hypersensitivity	5873	RAB27A	OMIM:607624
HP:0002972	Reduced delayed hypersensitivity	56160	NSMCE3	OMIM:617241
HP:0002972	Reduced delayed hypersensitivity	356	FASLG	OMIM:601859
HP:0002972	Reduced delayed hypersensitivity	355	FAS	OMIM:601859
HP:0002973	Abnormal forearm morphology	5573	PRKAR1A	ORPHA:950
HP:0002973	Abnormal forearm morphology	5144	PDE4D	ORPHA:950
HP:0002973	Abnormal forearm morphology	6473	SHOX	ORPHA:240
HP:0002973	Abnormal forearm morphology	10082	GPC6	ORPHA:93329
HP:0002973	Abnormal forearm morphology	8200	GDF5	ORPHA:2639
HP:0002973	Abnormal forearm morphology	658	BMPR1B	ORPHA:2639
HP:0002973	Abnormal forearm morphology	57167	SALL4	ORPHA:959
HP:0002973	Abnormal forearm morphology	2317	FLNB	ORPHA:1263
HP:0002973	Abnormal forearm morphology	7040	TGFB1	ORPHA:1328
HP:0002973	Abnormal forearm morphology	6926	TBX3	ORPHA:3138
HP:0002973	Abnormal forearm morphology	10743	RAI1	OMIM:182290
HP:0002973	Abnormal forearm morphology	1294	COL7A1	ORPHA:89843
HP:0002973	Abnormal forearm morphology	7291	TWIST1	ORPHA:794
HP:0002973	Abnormal forearm morphology	7291	TWIST1	OMIM:101400
HP:0002973	Abnormal forearm morphology	2263	FGFR2	ORPHA:794
HP:0002973	Abnormal forearm morphology	2263	FGFR2	OMIM:101400
HP:0002973	Abnormal forearm morphology	2261	FGFR3	ORPHA:794
HP:0002973	Abnormal forearm morphology	11285	B4GALT7	OMIM:130070
HP:0002973	Abnormal forearm morphology	4091	SMAD6	OMIM:179300
HP:0002973	Abnormal forearm morphology	10262	SF3B4	OMIM:154400
HP:0002973	Abnormal forearm morphology	10262	SF3B4	ORPHA:1788
HP:0002973	Abnormal forearm morphology	6910	TBX5	ORPHA:392
HP:0002973	Abnormal forearm morphology	6910	TBX5	OMIM:142900
HP:0002973	Abnormal forearm morphology	5648	MASP1	OMIM:257920
HP:0002973	Abnormal forearm morphology	5648	MASP1	ORPHA:293843
HP:0002973	Abnormal forearm morphology	6804	STX1A	ORPHA:904
HP:0002973	Abnormal forearm morphology	7461	CLIP2	ORPHA:904
HP:0002973	Abnormal forearm morphology	84277	DNAJC30	ORPHA:904
HP:0002973	Abnormal forearm morphology	8468	FKBP6	ORPHA:904
HP:0002973	Abnormal forearm morphology	5982	RFC2	ORPHA:904
HP:0002973	Abnormal forearm morphology	2969	GTF2I	ORPHA:904
HP:0002973	Abnormal forearm morphology	3984	LIMK1	ORPHA:904
HP:0002973	Abnormal forearm morphology	9569	GTF2IRD1	ORPHA:904
HP:0002973	Abnormal forearm morphology	155382	VPS37D	ORPHA:904
HP:0002973	Abnormal forearm morphology	155368	METTL27	ORPHA:904
HP:0002973	Abnormal forearm morphology	114049	BUD23	ORPHA:904
HP:0002973	Abnormal forearm morphology	7458	EIF4H	ORPHA:904
HP:0002973	Abnormal forearm morphology	84163	GTF2IRD2	ORPHA:904
HP:0002973	Abnormal forearm morphology	26608	TBL2	ORPHA:904
HP:0002973	Abnormal forearm morphology	653361	NCF1	ORPHA:904
HP:0002973	Abnormal forearm morphology	135886	TMEM270	ORPHA:904
HP:0002973	Abnormal forearm morphology	9031	BAZ1B	ORPHA:904
HP:0002973	Abnormal forearm morphology	2006	ELN	ORPHA:904
HP:0002973	Abnormal forearm morphology	2006	ELN	OMIM:194050
HP:0002973	Abnormal forearm morphology	2122	MECOM	ORPHA:71289
HP:0002973	Abnormal forearm morphology	2122	MECOM	OMIM:616738
HP:0002973	Abnormal forearm morphology	3207	HOXA11	ORPHA:71289
HP:0002973	Abnormal forearm morphology	157570	ESCO2	ORPHA:3103
HP:0002973	Abnormal forearm morphology	157570	ESCO2	ORPHA:2319
HP:0002973	Abnormal forearm morphology	78989	COLEC11	OMIM:265050
HP:0002973	Abnormal forearm morphology	78989	COLEC11	ORPHA:293843
HP:0002973	Abnormal forearm morphology	54880	BCOR	OMIM:300166
HP:0002973	Abnormal forearm morphology	54880	BCOR	ORPHA:2712
HP:0002973	Abnormal forearm morphology	4094	MAF	ORPHA:1272
HP:0002973	Abnormal forearm morphology	4094	MAF	OMIM:601088
HP:0002973	Abnormal forearm morphology	29998	BICRA	OMIM:619325
HP:0002973	Abnormal forearm morphology	23522	KAT6B	ORPHA:85201
HP:0002973	Abnormal forearm morphology	23522	KAT6B	OMIM:606170
HP:0002973	Abnormal forearm morphology	1723	DHODH	OMIM:263750
HP:0002973	Abnormal forearm morphology	51085	MLXIPL	OMIM:194050
HP:0002973	Abnormal forearm morphology	4038	LRP4	ORPHA:3258
HP:0002973	Abnormal forearm morphology	4038	LRP4	OMIM:212780
HP:0002973	Abnormal forearm morphology	324	APC	ORPHA:3258
HP:0002973	Abnormal forearm morphology	63895	PIEZO2	OMIM:248700
HP:0002973	Abnormal forearm morphology	63895	PIEZO2	ORPHA:2461
HP:0002973	Abnormal forearm morphology	126792	B3GALT6	ORPHA:536467
HP:0002973	Abnormal forearm morphology	10584	COLEC10	OMIM:248340
HP:0002973	Abnormal forearm morphology	10584	COLEC10	ORPHA:293843
HP:0002973	Abnormal forearm morphology	50945	TBX22	OMIM:302905
HP:0002973	Abnormal forearm morphology	50945	TBX22	ORPHA:921
HP:0002973	Abnormal forearm morphology	22800	RRAS2	ORPHA:648
HP:0002973	Abnormal forearm morphology	867	CBL	ORPHA:648
HP:0002973	Abnormal forearm morphology	8216	LZTR1	ORPHA:648
HP:0002973	Abnormal forearm morphology	6016	RIT1	ORPHA:648
HP:0002973	Abnormal forearm morphology	6237	RRAS	ORPHA:648
HP:0002973	Abnormal forearm morphology	5894	RAF1	ORPHA:648
HP:0002973	Abnormal forearm morphology	22808	MRAS	ORPHA:648
HP:0002973	Abnormal forearm morphology	200734	SPRED2	ORPHA:648
HP:0002973	Abnormal forearm morphology	4893	NRAS	ORPHA:648
HP:0002973	Abnormal forearm morphology	6654	SOS1	ORPHA:648
HP:0002973	Abnormal forearm morphology	6655	SOS2	ORPHA:648
HP:0002973	Abnormal forearm morphology	5781	PTPN11	ORPHA:648
HP:0002973	Abnormal forearm morphology	5922	RASA2	ORPHA:648
HP:0002973	Abnormal forearm morphology	22856	CHSY1	OMIM:605282
HP:0002973	Abnormal forearm morphology	64131	XYLT1	ORPHA:1425
HP:0002973	Abnormal forearm morphology	55790	CSGALNACT1	ORPHA:1425
HP:0002973	Abnormal forearm morphology	9469	CHST3	OMIM:245600
HP:0002973	Abnormal forearm morphology	26229	B3GAT3	OMIM:245600
HP:0002973	Abnormal forearm morphology	29980	DONSON	OMIM:617604
HP:0002973	Abnormal forearm morphology	7468	NSD2	OMIM:194190
HP:0002973	Abnormal forearm morphology	10815	CPLX1	OMIM:194190
HP:0002973	Abnormal forearm morphology	1487	CTBP1	OMIM:194190
HP:0002973	Abnormal forearm morphology	53834	FGFRL1	OMIM:194190
HP:0002973	Abnormal forearm morphology	3954	LETM1	OMIM:194190
HP:0002973	Abnormal forearm morphology	26040	SETBP1	ORPHA:798
HP:0002973	Abnormal forearm morphology	9935	MAFB	ORPHA:233
HP:0002973	Abnormal forearm morphology	1123	CHN1	ORPHA:233
HP:0002973	Abnormal forearm morphology	28981	IFT81	OMIM:617895
HP:0002973	Abnormal forearm morphology	92002	CCNQ	ORPHA:140952
HP:0002973	Abnormal forearm morphology	2255	FGF10	ORPHA:2363
HP:0002973	Abnormal forearm morphology	9321	TRIP11	OMIM:200600
HP:0002973	Abnormal forearm morphology	6223	RPS19	OMIM:105650
HP:0002973	Abnormal forearm morphology	79087	ALG12	OMIM:607143
HP:0002973	Abnormal forearm morphology	9775	EIF4A3	OMIM:268305
HP:0002973	Abnormal forearm morphology	8241	RBM10	OMIM:311900
HP:0002973	Abnormal forearm morphology	2737	GLI3	ORPHA:672
HP:0002973	Abnormal forearm morphology	4920	ROR2	OMIM:268310
HP:0002973	Abnormal forearm morphology	1301	COL11A1	OMIM:154780
HP:0002973	Abnormal forearm morphology	4882	NPR2	OMIM:602875
HP:0002973	Abnormal forearm morphology	1280	COL2A1	OMIM:151210
HP:0002973	Abnormal forearm morphology	8074	FGF23	OMIM:617993
HP:0002973	Abnormal forearm morphology	5593	PRKG2	OMIM:619636
HP:0002973	Abnormal forearm morphology	91147	TMEM67	OMIM:602152
HP:0002973	Abnormal forearm morphology	3549	IHH	OMIM:607778
HP:0002973	Abnormal forearm morphology	567	B2M	OMIM:241600
HP:0002973	Abnormal forearm morphology	112752	IFT43	OMIM:617866
HP:0002973	Abnormal forearm morphology	3930	LBR	OMIM:618019
HP:0002973	Abnormal forearm morphology	5116	PCNT	OMIM:210720
HP:0002973	Abnormal forearm morphology	2316	FLNA	OMIM:304120
HP:0002973	Abnormal forearm morphology	64175	P3H1	OMIM:610915
HP:0002973	Abnormal forearm morphology	79659	DYNC2H1	OMIM:613091
HP:0002973	Abnormal forearm morphology	51604	PIGT	OMIM:615398
HP:0002973	Abnormal forearm morphology	9820	CUL7	ORPHA:2616
HP:0002973	Abnormal forearm morphology	23363	OBSL1	ORPHA:2616
HP:0002973	Abnormal forearm morphology	83987	CCDC8	ORPHA:2616
HP:0002973	Abnormal forearm morphology	182	JAG1	OMIM:118450
HP:0002973	Abnormal forearm morphology	57020	VPS35L	OMIM:619135
HP:0002973	Abnormal forearm morphology	54101	RIPK4	OMIM:263650
HP:0002973	Abnormal forearm morphology	9939	RBM8A	OMIM:274000
HP:0002973	Abnormal forearm morphology	3911	LAMA5	OMIM:620076
HP:0002973	Abnormal forearm morphology	9791	PTDSS1	OMIM:151050
HP:0002973	Abnormal forearm morphology	6913	TBX15	OMIM:260660
HP:0002973	Abnormal forearm morphology	6913	TBX15	ORPHA:93333
HP:0002973	Abnormal forearm morphology	9241	NOG	OMIM:186570
HP:0002973	Abnormal forearm morphology	2260	FGFR1	OMIM:101600
HP:0002973	Abnormal forearm morphology	7476	WNT7A	ORPHA:2879
HP:0002973	Abnormal forearm morphology	7476	WNT7A	OMIM:276820
HP:0002973	Abnormal forearm morphology	56603	CYP26B1	OMIM:614416
HP:0002973	Abnormal forearm morphology	2254	FGF9	OMIM:612961
HP:0002973	Abnormal forearm morphology	59341	TRPV4	ORPHA:93314
HP:0002973	Abnormal forearm morphology	1182	CLCN3	OMIM:619512
HP:0002973	Abnormal forearm morphology	85301	COL27A1	OMIM:615155
HP:0002973	Abnormal forearm morphology	2033	EP300	OMIM:180849
HP:0002973	Abnormal forearm morphology	1387	CREBBP	OMIM:180849
HP:0002973	Abnormal forearm morphology	6885	MAP3K7	OMIM:617137
HP:0002973	Abnormal forearm morphology	6885	MAP3K7	ORPHA:1826
HP:0002973	Abnormal forearm morphology	90459	ERI1	OMIM:620663
HP:0002973	Abnormal forearm morphology	145258	GSC	OMIM:602471
HP:0002973	Abnormal forearm morphology	10847	SRCAP	OMIM:136140
HP:0002973	Abnormal forearm morphology	10847	SRCAP	ORPHA:2044
HP:0002973	Abnormal forearm morphology	8318	CDC45	OMIM:617063
HP:0002973	Abnormal forearm morphology	23233	EXOC6B	OMIM:618395
HP:0002973	Abnormal forearm morphology	2137	EXTL3	OMIM:617425
HP:0002973	Abnormal forearm morphology	6662	SOX9	OMIM:114290
HP:0002973	Abnormal forearm morphology	10225	CD96	OMIM:211750
HP:0002973	Abnormal forearm morphology	10225	CD96	ORPHA:1308
HP:0002973	Abnormal forearm morphology	2067	ERCC1	OMIM:610758
HP:0002973	Abnormal forearm morphology	2535	FZD2	OMIM:164745
HP:0002973	Abnormal forearm morphology	1146	CHRNG	OMIM:265000
HP:0002973	Abnormal forearm morphology	6497	SKI	OMIM:182212
HP:0002973	Abnormal forearm morphology	3835	KIF22	OMIM:603546
HP:0002973	Abnormal forearm morphology	57492	ARID1B	OMIM:135900
HP:0002973	Abnormal forearm morphology	3899	AFF3	OMIM:619297
HP:0002973	Abnormal forearm morphology	4853	NOTCH2	OMIM:102500
HP:0002973	Abnormal forearm morphology	100151683	RNU4ATAC	ORPHA:1824
HP:0002973	Abnormal forearm morphology	7474	WNT5A	OMIM:180700
HP:0002973	Abnormal forearm morphology	1855	DVL1	OMIM:180700
HP:0002973	Abnormal forearm morphology	1289	COL5A1	ORPHA:287
HP:0002973	Abnormal forearm morphology	1290	COL5A2	ORPHA:287
HP:0002973	Abnormal forearm morphology	3897	L1CAM	OMIM:304100
HP:0002973	Abnormal forearm morphology	171023	ASXL1	OMIM:605039
HP:0002973	Abnormal forearm morphology	91252	SLC39A13	OMIM:612350
HP:0002973	Abnormal forearm morphology	545	ATR	OMIM:210600
HP:0002973	Abnormal forearm morphology	649	BMP1	OMIM:614856
HP:0002973	Abnormal forearm morphology	22858	CILK1	OMIM:612651
HP:0002973	Abnormal forearm morphology	2131	EXT1	ORPHA:321
HP:0002973	Abnormal forearm morphology	2132	EXT2	ORPHA:321
HP:0002973	Abnormal forearm morphology	7547	ZIC3	OMIM:314390
HP:0002973	Abnormal forearm morphology	55636	CHD7	OMIM:214800
HP:0002973	Abnormal forearm morphology	202018	TAPT1	OMIM:616897
HP:0002973	Abnormal forearm morphology	633	BGN	OMIM:300106
HP:0002973	Abnormal forearm morphology	8792	TNFRSF11A	OMIM:602080
HP:0002973	Abnormal forearm morphology	25782	RAB3GAP2	OMIM:212720
HP:0002973	Abnormal forearm morphology	64682	ANAPC1	ORPHA:221008
HP:0002973	Abnormal forearm morphology	1297	COL9A1	ORPHA:166002
HP:0002973	Abnormal forearm morphology	1298	COL9A2	ORPHA:166002
HP:0002973	Abnormal forearm morphology	1299	COL9A3	ORPHA:166002
HP:0002973	Abnormal forearm morphology	1311	COMP	OMIM:177170
HP:0002973	Abnormal forearm morphology	1300	COL10A1	ORPHA:174
HP:0002973	Abnormal forearm morphology	6638	SNRPN	ORPHA:177910
HP:0002973	Abnormal forearm morphology	4692	NDN	ORPHA:177910
HP:0002973	Abnormal forearm morphology	54551	MAGEL2	ORPHA:177910
HP:0002973	Abnormal forearm morphology	54809	SAMD9	OMIM:617053
HP:0002973	Abnormal forearm morphology	387733	IFITM5	OMIM:610967
HP:0002973	Abnormal forearm morphology	64327	LMBR1	OMIM:200500
HP:0002973	Abnormal forearm morphology	9401	RECQL4	OMIM:268400
HP:0002973	Abnormal forearm morphology	6154	RPL26	OMIM:614900
HP:0002973	Abnormal forearm morphology	64135	IFIH1	OMIM:182250
HP:0002973	Abnormal forearm morphology	4010	LMX1B	OMIM:161200
HP:0002973	Abnormal forearm morphology	27125	AFF4	ORPHA:444077
HP:0002973	Abnormal forearm morphology	165	AEBP1	ORPHA:536532
HP:0002973	Abnormal forearm morphology	124583	CANT1	OMIM:251450
HP:0002973	Abnormal forearm morphology	5447	POR	ORPHA:95699
HP:0002973	Abnormal forearm morphology	727857	BHLHA9	ORPHA:3329
HP:0002973	Abnormal forearm morphology	727857	BHLHA9	ORPHA:1986
HP:0002973	Abnormal forearm morphology	7140	TNNT3	ORPHA:1147
HP:0002973	Abnormal forearm morphology	4621	MYH3	ORPHA:1147
HP:0002973	Abnormal forearm morphology	7169	TPM2	ORPHA:1147
HP:0002973	Abnormal forearm morphology	259232	NALCN	ORPHA:1147
HP:0002973	Abnormal forearm morphology	7136	TNNI2	ORPHA:1147
HP:0002973	Abnormal forearm morphology	3239	HOXD13	ORPHA:887
HP:0002973	Abnormal forearm morphology	60681	FKBP10	ORPHA:1149
HP:0002973	Abnormal forearm morphology	1717	DHCR7	ORPHA:818
HP:0002973	Abnormal forearm morphology	6469	SHH	ORPHA:93321
HP:0002973	Abnormal forearm morphology	7204	TRIO	ORPHA:476126
HP:0002973	Abnormal forearm morphology	23476	BRD4	ORPHA:199
HP:0002973	Abnormal forearm morphology	9126	SMC3	ORPHA:199
HP:0002973	Abnormal forearm morphology	8243	SMC1A	ORPHA:199
HP:0002973	Abnormal forearm morphology	6878	TAF6	ORPHA:199
HP:0002973	Abnormal forearm morphology	25836	NIPBL	ORPHA:199
HP:0002973	Abnormal forearm morphology	55869	HDAC8	ORPHA:199
HP:0002973	Abnormal forearm morphology	5885	RAD21	ORPHA:199
HP:0002973	Abnormal forearm morphology	5980	REV3L	ORPHA:570
HP:0002973	Abnormal forearm morphology	23129	PLXND1	ORPHA:570
HP:0002973	Abnormal forearm morphology	4318	MMP9	ORPHA:1040
HP:0002973	Abnormal forearm morphology	4322	MMP13	ORPHA:1040
HP:0002973	Abnormal forearm morphology	5604	MAP2K1	ORPHA:1340
HP:0002973	Abnormal forearm morphology	5605	MAP2K2	ORPHA:1340
HP:0002973	Abnormal forearm morphology	3845	KRAS	ORPHA:1340
HP:0002973	Abnormal forearm morphology	673	BRAF	ORPHA:1340
HP:0002973	Abnormal forearm morphology	672	BRCA1	ORPHA:84
HP:0002973	Abnormal forearm morphology	10459	MAD2L2	ORPHA:84
HP:0002973	Abnormal forearm morphology	7516	XRCC2	ORPHA:84
HP:0002973	Abnormal forearm morphology	29089	UBE2T	ORPHA:84
HP:0002973	Abnormal forearm morphology	675	BRCA2	ORPHA:84
HP:0002973	Abnormal forearm morphology	55120	FANCL	ORPHA:84
HP:0002973	Abnormal forearm morphology	2177	FANCD2	ORPHA:84
HP:0002973	Abnormal forearm morphology	2175	FANCA	ORPHA:84
HP:0002973	Abnormal forearm morphology	2187	FANCB	ORPHA:84
HP:0002973	Abnormal forearm morphology	2176	FANCC	ORPHA:84
HP:0002973	Abnormal forearm morphology	2178	FANCE	ORPHA:84
HP:0002973	Abnormal forearm morphology	2188	FANCF	ORPHA:84
HP:0002973	Abnormal forearm morphology	2189	FANCG	ORPHA:84
HP:0002973	Abnormal forearm morphology	5888	RAD51	ORPHA:84
HP:0002973	Abnormal forearm morphology	5889	RAD51C	ORPHA:84
HP:0002973	Abnormal forearm morphology	55159	RFWD3	ORPHA:84
HP:0002973	Abnormal forearm morphology	83990	BRIP1	ORPHA:84
HP:0002973	Abnormal forearm morphology	57697	FANCM	ORPHA:84
HP:0002973	Abnormal forearm morphology	79728	PALB2	ORPHA:84
HP:0002973	Abnormal forearm morphology	84464	SLX4	ORPHA:84
HP:0002973	Abnormal forearm morphology	2072	ERCC4	ORPHA:84
HP:0002973	Abnormal forearm morphology	55215	FANCI	ORPHA:84
HP:0002973	Abnormal forearm morphology	9555	MACROH2A1	ORPHA:1275
HP:0002973	Abnormal forearm morphology	5307	PITX1	ORPHA:1275
HP:0002973	Abnormal forearm morphology	175	AGA	ORPHA:93
HP:0002973	Abnormal forearm morphology	1836	SLC26A2	ORPHA:93307
HP:0002973	Abnormal forearm morphology	91179	SCARF2	OMIM:600920
HP:0002973	Abnormal forearm morphology	1277	COL1A1	OMIM:114000
HP:0002974	Radioulnar synostosis	7291	TWIST1	ORPHA:794
HP:0002974	Radioulnar synostosis	7291	TWIST1	OMIM:101400
HP:0002974	Radioulnar synostosis	2263	FGFR2	ORPHA:794
HP:0002974	Radioulnar synostosis	2263	FGFR2	OMIM:101400
HP:0002974	Radioulnar synostosis	2261	FGFR3	ORPHA:794
HP:0002974	Radioulnar synostosis	23476	BRD4	ORPHA:199
HP:0002974	Radioulnar synostosis	9126	SMC3	ORPHA:199
HP:0002974	Radioulnar synostosis	8243	SMC1A	ORPHA:199
HP:0002974	Radioulnar synostosis	6878	TAF6	ORPHA:199
HP:0002974	Radioulnar synostosis	25836	NIPBL	ORPHA:199
HP:0002974	Radioulnar synostosis	55869	HDAC8	ORPHA:199
HP:0002974	Radioulnar synostosis	5885	RAD21	ORPHA:199
HP:0002974	Radioulnar synostosis	5885	RAD21	OMIM:614701
HP:0002974	Radioulnar synostosis	11285	B4GALT7	OMIM:130070
HP:0002974	Radioulnar synostosis	4091	SMAD6	OMIM:179300
HP:0002974	Radioulnar synostosis	10262	SF3B4	OMIM:154400
HP:0002974	Radioulnar synostosis	10262	SF3B4	ORPHA:1788
HP:0002974	Radioulnar synostosis	5447	POR	OMIM:201750
HP:0002974	Radioulnar synostosis	5447	POR	ORPHA:95699
HP:0002974	Radioulnar synostosis	6910	TBX5	ORPHA:392
HP:0002974	Radioulnar synostosis	6910	TBX5	OMIM:142900
HP:0002974	Radioulnar synostosis	57167	SALL4	OMIM:147750
HP:0002974	Radioulnar synostosis	57167	SALL4	ORPHA:2307
HP:0002974	Radioulnar synostosis	5648	MASP1	OMIM:257920
HP:0002974	Radioulnar synostosis	5648	MASP1	ORPHA:293843
HP:0002974	Radioulnar synostosis	6154	RPL26	OMIM:614900
HP:0002974	Radioulnar synostosis	6804	STX1A	ORPHA:904
HP:0002974	Radioulnar synostosis	7461	CLIP2	ORPHA:904
HP:0002974	Radioulnar synostosis	84277	DNAJC30	ORPHA:904
HP:0002974	Radioulnar synostosis	8468	FKBP6	ORPHA:904
HP:0002974	Radioulnar synostosis	5982	RFC2	ORPHA:904
HP:0002974	Radioulnar synostosis	2969	GTF2I	ORPHA:904
HP:0002974	Radioulnar synostosis	3984	LIMK1	ORPHA:904
HP:0002974	Radioulnar synostosis	9569	GTF2IRD1	ORPHA:904
HP:0002974	Radioulnar synostosis	155382	VPS37D	ORPHA:904
HP:0002974	Radioulnar synostosis	155368	METTL27	ORPHA:904
HP:0002974	Radioulnar synostosis	114049	BUD23	ORPHA:904
HP:0002974	Radioulnar synostosis	7458	EIF4H	ORPHA:904
HP:0002974	Radioulnar synostosis	84163	GTF2IRD2	ORPHA:904
HP:0002974	Radioulnar synostosis	26608	TBL2	ORPHA:904
HP:0002974	Radioulnar synostosis	653361	NCF1	ORPHA:904
HP:0002974	Radioulnar synostosis	135886	TMEM270	ORPHA:904
HP:0002974	Radioulnar synostosis	9031	BAZ1B	ORPHA:904
HP:0002974	Radioulnar synostosis	2006	ELN	ORPHA:904
HP:0002974	Radioulnar synostosis	2006	ELN	OMIM:194050
HP:0002974	Radioulnar synostosis	2122	MECOM	ORPHA:71289
HP:0002974	Radioulnar synostosis	2122	MECOM	OMIM:616738
HP:0002974	Radioulnar synostosis	3207	HOXA11	ORPHA:71289
HP:0002974	Radioulnar synostosis	157570	ESCO2	ORPHA:3103
HP:0002974	Radioulnar synostosis	157570	ESCO2	ORPHA:2319
HP:0002974	Radioulnar synostosis	78989	COLEC11	OMIM:265050
HP:0002974	Radioulnar synostosis	78989	COLEC11	ORPHA:293843
HP:0002974	Radioulnar synostosis	54880	BCOR	OMIM:300166
HP:0002974	Radioulnar synostosis	54880	BCOR	ORPHA:2712
HP:0002974	Radioulnar synostosis	4094	MAF	ORPHA:1272
HP:0002974	Radioulnar synostosis	4094	MAF	OMIM:601088
HP:0002974	Radioulnar synostosis	29998	BICRA	OMIM:619325
HP:0002974	Radioulnar synostosis	23522	KAT6B	ORPHA:85201
HP:0002974	Radioulnar synostosis	23522	KAT6B	OMIM:606170
HP:0002974	Radioulnar synostosis	1723	DHODH	OMIM:263750
HP:0002974	Radioulnar synostosis	51085	MLXIPL	OMIM:194050
HP:0002974	Radioulnar synostosis	4038	LRP4	ORPHA:3258
HP:0002974	Radioulnar synostosis	4038	LRP4	OMIM:212780
HP:0002974	Radioulnar synostosis	324	APC	ORPHA:3258
HP:0002974	Radioulnar synostosis	63895	PIEZO2	OMIM:248700
HP:0002974	Radioulnar synostosis	63895	PIEZO2	ORPHA:2461
HP:0002974	Radioulnar synostosis	126792	B3GALT6	ORPHA:536467
HP:0002974	Radioulnar synostosis	10584	COLEC10	OMIM:248340
HP:0002974	Radioulnar synostosis	10584	COLEC10	ORPHA:293843
HP:0002974	Radioulnar synostosis	50945	TBX22	OMIM:302905
HP:0002974	Radioulnar synostosis	50945	TBX22	ORPHA:921
HP:0002974	Radioulnar synostosis	22800	RRAS2	ORPHA:648
HP:0002974	Radioulnar synostosis	867	CBL	ORPHA:648
HP:0002974	Radioulnar synostosis	8216	LZTR1	ORPHA:648
HP:0002974	Radioulnar synostosis	6016	RIT1	ORPHA:648
HP:0002974	Radioulnar synostosis	6237	RRAS	ORPHA:648
HP:0002974	Radioulnar synostosis	5894	RAF1	ORPHA:648
HP:0002974	Radioulnar synostosis	22808	MRAS	ORPHA:648
HP:0002974	Radioulnar synostosis	3845	KRAS	ORPHA:648
HP:0002974	Radioulnar synostosis	200734	SPRED2	ORPHA:648
HP:0002974	Radioulnar synostosis	4893	NRAS	ORPHA:648
HP:0002974	Radioulnar synostosis	6654	SOS1	ORPHA:648
HP:0002974	Radioulnar synostosis	6655	SOS2	ORPHA:648
HP:0002974	Radioulnar synostosis	5781	PTPN11	ORPHA:648
HP:0002974	Radioulnar synostosis	5922	RASA2	ORPHA:648
HP:0002974	Radioulnar synostosis	22856	CHSY1	OMIM:605282
HP:0002974	Radioulnar synostosis	64131	XYLT1	ORPHA:1425
HP:0002974	Radioulnar synostosis	124583	CANT1	ORPHA:1425
HP:0002974	Radioulnar synostosis	55790	CSGALNACT1	ORPHA:1425
HP:0002974	Radioulnar synostosis	9469	CHST3	OMIM:245600
HP:0002974	Radioulnar synostosis	26229	B3GAT3	OMIM:245600
HP:0002974	Radioulnar synostosis	29980	DONSON	OMIM:617604
HP:0002974	Radioulnar synostosis	7468	NSD2	OMIM:194190
HP:0002974	Radioulnar synostosis	10815	CPLX1	OMIM:194190
HP:0002974	Radioulnar synostosis	1487	CTBP1	OMIM:194190
HP:0002974	Radioulnar synostosis	53834	FGFRL1	OMIM:194190
HP:0002974	Radioulnar synostosis	3954	LETM1	OMIM:194190
HP:0002974	Radioulnar synostosis	26040	SETBP1	ORPHA:798
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1718	DHCR24	OMIM:602398
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1718	DHCR24	ORPHA:35107
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23394	ADNP	ORPHA:404448
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51399	TRAPPC4	OMIM:618741
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1139	CHRNA7	ORPHA:199318
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51569	UFM1	OMIM:617899
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10059	DNM1L	OMIM:614388
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6228	RPS23	OMIM:617412
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7360	UGP2	OMIM:618744
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	283489	CHAMP1	OMIM:616579
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	478	ATP1A3	OMIM:619606
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	478	ATP1A3	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2137	EXTL3	OMIM:617425
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2137	EXTL3	ORPHA:508533
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84520	GON7	OMIM:619603
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84520	GON7	ORPHA:2065
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1161	ERCC8	OMIM:216400
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79693	YRDC	OMIM:619609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79693	YRDC	ORPHA:2065
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5832	ALDH18A1	OMIM:616586
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5832	ALDH18A1	ORPHA:90348
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5832	ALDH18A1	ORPHA:447760
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5832	ALDH18A1	OMIM:616603
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6884	TAF13	OMIM:617432
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6884	TAF13	ORPHA:2512
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79029	AFG2B	OMIM:619616
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10111	RAD50	OMIM:613078
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55681	SCYL2	OMIM:618766
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	85465	SELENOI	OMIM:618768
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	85465	SELENOI	ORPHA:506353
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5191	PEX7	OMIM:215100
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3339	HSPG2	ORPHA:1865
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3339	HSPG2	OMIM:224410
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3339	HSPG2	ORPHA:800
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3339	HSPG2	ORPHA:1606
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5813	PURA	ORPHA:438216
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	89910	UBE3B	ORPHA:2707
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	89910	UBE3B	OMIM:244450
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1499	CTNNB1	ORPHA:404473
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1499	CTNNB1	ORPHA:891
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55131	RBM28	ORPHA:157954
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55131	RBM28	OMIM:612079
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55768	NGLY1	OMIM:615273
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55621	TRMT1	OMIM:618302
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6905	TBCE	OMIM:241410
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6905	TBCE	ORPHA:2323
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6905	TBCE	ORPHA:93324
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51633	OTUD6B	OMIM:617452
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51633	OTUD6B	ORPHA:505237
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79718	TBL1XR1	OMIM:602342
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54828	BCAS3	OMIM:619641
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6305	SBF1	OMIM:615284
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3800	KIF5C	OMIM:615282
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2232	FDXR	ORPHA:543470
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7358	UGDH	OMIM:618792
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	113179	ADAT3	OMIM:615286
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	113179	ADAT3	ORPHA:363528
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2904	GRIN2B	OMIM:616139
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2904	GRIN2B	OMIM:613970
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	200424	TET3	OMIM:618798
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79971	WLS	OMIM:619648
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79728	PALB2	OMIM:610832
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79728	PALB2	ORPHA:84
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	56975	FAM20C	ORPHA:1832
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	56975	FAM20C	OMIM:259775
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5917	RARS1	OMIM:616140
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5917	RARS1	ORPHA:438114
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54916	TMEM260	OMIM:617478
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4733	DRG1	OMIM:620641
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	100151683	RNU4ATAC	ORPHA:1824
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	100151683	RNU4ATAC	ORPHA:353298
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	100151683	RNU4ATAC	OMIM:226960
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	100151683	RNU4ATAC	OMIM:210710
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	100151683	RNU4ATAC	OMIM:616651
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	100151683	RNU4ATAC	ORPHA:2636
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	58497	PRUNE1	OMIM:617481
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	58497	PRUNE1	ORPHA:544469
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84188	FAR1	OMIM:616154
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	120	ADD3	OMIM:617008
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5426	POLE	OMIM:618336
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5910	RAP1GDS1	OMIM:620655
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7873	MANF	OMIM:620651
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3480	IGF1R	ORPHA:73273
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3480	IGF1R	OMIM:270450
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3479	IGF1	ORPHA:73272
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3479	IGF1	OMIM:608747
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3155	HMGCL	ORPHA:20
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3155	HMGCL	OMIM:246450
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2775	GNAO1	OMIM:617493
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2775	GNAO1	ORPHA:1934
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10785	WDR4	OMIM:618346
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10785	WDR4	OMIM:618347
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10785	WDR4	ORPHA:2065
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4598	MVK	ORPHA:29
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4598	MVK	OMIM:610377
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23516	SLC39A14	OMIM:617013
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54517	PUS7	OMIM:618342
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10564	ARFGEF2	OMIM:608097
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57122	NUP107	OMIM:618348
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57122	NUP107	ORPHA:243
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57122	NUP107	ORPHA:2065
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55746	NUP133	OMIM:618349
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55746	NUP133	ORPHA:2065
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	56945	MRPS22	OMIM:611719
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	56945	MRPS22	ORPHA:243
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	27125	AFF4	ORPHA:444077
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	27125	AFF4	OMIM:616368
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5575	PRKAR1B	OMIM:619680
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	11277	TREX1	OMIM:225750
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	11277	TREX1	ORPHA:51
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23114	NFASC	OMIM:618356
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	154881	KCTD7	OMIM:611726
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	154881	KCTD7	ORPHA:263516
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55777	MBD5	OMIM:156200
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55777	MBD5	ORPHA:228402
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10588	MTHFS	OMIM:618367
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2334	AFF2	OMIM:309548
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	92255	LMBRD2	OMIM:619694
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3054	HCFC1	OMIM:309541
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	201163	FLCN	OMIM:610883
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3183	HNRNPC	OMIM:620688
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3431	SP110	OMIM:235550
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3431	SP110	ORPHA:79124
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51608	GET4	OMIM:620200
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7703	PCGF2	OMIM:618371
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23111	SPART	ORPHA:101000
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	27316	RBMX	OMIM:309555
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6390	SDHB	OMIM:619224
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	11342	RNF13	OMIM:618379
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	11342	RNF13	ORPHA:544503
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8802	SUCLG1	ORPHA:17
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4613	MYCN	OMIM:164280
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4613	MYCN	ORPHA:391641
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51729	WBP11	OMIM:619227
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2707	GJB3	ORPHA:317
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2531	KDSR	ORPHA:317
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	127534	GJB4	ORPHA:317
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3028	HSD17B10	ORPHA:391428
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	83480	PUS3	OMIM:617051
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8943	AP3D1	OMIM:617050
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9757	KMT2B	ORPHA:589618
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9757	KMT2B	OMIM:619934
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9757	KMT2B	OMIM:617284
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84265	POLR3GL	OMIM:619234
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	134218	DNAJC21	OMIM:617052
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8452	CUL3	OMIM:619239
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6608	SMO	OMIM:241800
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1457	CSNK2A1	OMIM:617062
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7204	TRIO	OMIM:617061
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23112	TNRC6B	OMIM:619243
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	91875	TTC5	OMIM:619244
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8450	CUL4B	ORPHA:85293
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	201595	STT3B	ORPHA:370924
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	201595	STT3B	OMIM:615597
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10436	EMG1	OMIM:211180
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10436	EMG1	ORPHA:1270
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6748	SSR4	ORPHA:370927
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6748	SSR4	OMIM:300934
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10084	PQBP1	OMIM:309500
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10084	PQBP1	ORPHA:93950
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10084	PQBP1	ORPHA:93946
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10084	PQBP1	ORPHA:93947
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10479	SLC9A6	ORPHA:85278
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10479	SLC9A6	OMIM:300243
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8242	KDM5C	ORPHA:85279
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8242	KDM5C	OMIM:300534
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	89970	RSPRY1	ORPHA:457395
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	89970	RSPRY1	OMIM:616723
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8831	SYNGAP1	OMIM:612621
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8831	SYNGAP1	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8831	SYNGAP1	ORPHA:1942
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8831	SYNGAP1	ORPHA:544254
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54187	NANS	OMIM:610442
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84464	SLX4	OMIM:613951
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84464	SLX4	ORPHA:84
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	284058	KANSL1	OMIM:610443
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	284058	KANSL1	ORPHA:363958
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	284058	KANSL1	ORPHA:363965
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1968	EIF2S3	ORPHA:85282
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1968	EIF2S3	OMIM:300148
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	81615	TMEM163	OMIM:620243
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	64131	XYLT1	ORPHA:370930
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	64131	XYLT1	OMIM:615777
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2801	GOLGA2	OMIM:620240
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	116150	NUS1	OMIM:617082
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	116150	NUS1	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55181	SMG8	OMIM:619268
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	25886	POC1A	OMIM:614813
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3516	RBPJ	OMIM:614814
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5138	PDE2A	OMIM:619150
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	128	ADH5	OMIM:619151
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6535	SLC6A8	OMIM:300352
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6535	SLC6A8	ORPHA:52503
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26960	NBEA	OMIM:619157
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6309	SC5D	ORPHA:46059
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6309	SC5D	OMIM:607330
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	781	CACNA2D1	OMIM:620149
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	781	CACNA2D1	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7518	XRCC4	ORPHA:99812
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7518	XRCC4	OMIM:616541
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3981	LIG4	ORPHA:99812
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3981	LIG4	ORPHA:235
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3981	LIG4	OMIM:606593
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80144	FRAS1	OMIM:219000
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80144	FRAS1	ORPHA:2052
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10093	ARPC4	OMIM:620141
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	613	BCR	ORPHA:261330
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1399	CRKL	ORPHA:261330
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5594	MAPK1	ORPHA:261330
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5594	MAPK1	OMIM:619087
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	224	ALDH3A2	ORPHA:816
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2314	FLII	ORPHA:819
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23096	IQSEC2	ORPHA:819
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10743	RAI1	ORPHA:819
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10743	RAI1	ORPHA:1713
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10522	DEAF1	ORPHA:819
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10522	DEAF1	ORPHA:468620
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	150468	CKAP2L	ORPHA:3255
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	150468	CKAP2L	OMIM:272440
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3242	HPD	OMIM:140350
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9382	COG1	OMIM:611209
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	338657	CENATAC	OMIM:620153
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	25778	DSTYK	OMIM:270750
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	25839	COG4	ORPHA:263501
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	25839	COG4	OMIM:613489
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	25839	COG4	ORPHA:85172
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	56992	KIF15	ORPHA:261323
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	56992	KIF15	OMIM:619981
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4718	NDUFC2	OMIM:619170
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1738	DLD	ORPHA:2394
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1738	DLD	OMIM:246900
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	92579	G6PC3	OMIM:612541
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	672	BRCA1	ORPHA:84
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	672	BRCA1	OMIM:617883
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10459	MAD2L2	ORPHA:84
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10459	MAD2L2	OMIM:617243
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7516	XRCC2	ORPHA:84
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7516	XRCC2	OMIM:617247
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	29089	UBE2T	ORPHA:84
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	675	BRCA2	ORPHA:84
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	675	BRCA2	OMIM:605724
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2177	FANCD2	ORPHA:84
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2177	FANCD2	OMIM:227646
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2175	FANCA	ORPHA:84
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2175	FANCA	OMIM:227650
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2176	FANCC	ORPHA:84
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2176	FANCC	OMIM:227645
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2178	FANCE	ORPHA:84
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2178	FANCE	OMIM:600901
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2188	FANCF	ORPHA:84
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2188	FANCF	OMIM:603467
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2189	FANCG	ORPHA:84
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2189	FANCG	OMIM:614082
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5888	RAD51	ORPHA:84
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5888	RAD51	OMIM:617244
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5889	RAD51C	ORPHA:84
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55159	RFWD3	ORPHA:84
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55159	RFWD3	OMIM:617784
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	83990	BRIP1	ORPHA:84
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57697	FANCM	ORPHA:84
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	546	ATRX	ORPHA:847
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	546	ATRX	OMIM:309580
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	546	ATRX	OMIM:301040
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	222663	SCUBE3	OMIM:619184
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10367	MICU1	ORPHA:401768
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10367	MICU1	OMIM:615673
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	11284	PNKP	OMIM:613402
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	11284	PNKP	ORPHA:1934
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	63894	VIPAS39	OMIM:613404
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	83879	CDCA7	OMIM:616910
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	25942	SIN3A	OMIM:613406
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	25942	SIN3A	ORPHA:94065
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	53834	FGFRL1	OMIM:194190
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54084	TSPEAR	OMIM:620173
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5447	POR	OMIM:201750
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	91754	NEK9	ORPHA:64754
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84720	PIGO	OMIM:614749
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23345	SYNE1	ORPHA:319332
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3675	ITGA3	OMIM:614748
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8379	MAD1L1	OMIM:620189
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23137	SMC5	OMIM:620185
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55343	SLC35C1	OMIM:266265
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55343	SLC35C1	ORPHA:99843
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79759	ZNF668	OMIM:620194
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1737	DLAT	OMIM:245348
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1737	DLAT	ORPHA:79244
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8050	PDHX	OMIM:245349
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8050	PDHX	ORPHA:255182
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23522	KAT6B	ORPHA:85201
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23522	KAT6B	OMIM:606170
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23522	KAT6B	OMIM:603736
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23522	KAT6B	ORPHA:3047
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	388015	RTL1	ORPHA:96334
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8788	DLK1	ORPHA:96334
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55384	MEG3	ORPHA:96334
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	158	ADSL	ORPHA:46
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	158	ADSL	OMIM:103050
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	81887	LAS1L	OMIM:309585
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	545	ATR	ORPHA:808
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	545	ATR	OMIM:210600
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5116	PCNT	ORPHA:808
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5116	PCNT	OMIM:210720
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5116	PCNT	ORPHA:2637
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79902	NUP85	ORPHA:808
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84126	ATRIP	ORPHA:808
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10293	TRAIP	ORPHA:808
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10293	TRAIP	OMIM:616777
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1763	DNA2	ORPHA:808
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1763	DNA2	OMIM:620819
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1763	DNA2	OMIM:615807
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	22995	CEP152	ORPHA:808
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	22995	CEP152	OMIM:613823
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	22995	CEP152	ORPHA:2512
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	22995	CEP152	OMIM:614852
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2961	GTF2E2	OMIM:616943
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2961	GTF2E2	ORPHA:33364
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51567	TDP2	OMIM:616949
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6567	SLC16A2	ORPHA:59
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6567	SLC16A2	OMIM:300523
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9276	COPB2	OMIM:617800
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9276	COPB2	OMIM:619884
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9276	COPB2	ORPHA:2512
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	22907	DHX30	OMIM:617804
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9990	SLC12A6	ORPHA:1496
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9894	TELO2	OMIM:616954
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10535	RNASEH2A	ORPHA:51
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84153	RNASEH2C	ORPHA:51
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	25939	SAMHD1	ORPHA:51
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	25939	SAMHD1	OMIM:612952
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79621	RNASEH2B	ORPHA:51
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79621	RNASEH2B	OMIM:610181
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	103	ADAR	ORPHA:51
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	103	ADAR	OMIM:615010
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	100147744	RNU7-1	ORPHA:51
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	100147744	RNU7-1	OMIM:619487
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	134353	LSM11	ORPHA:51
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	64135	IFIH1	ORPHA:51
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	64135	IFIH1	OMIM:615846
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	56052	ALG1	OMIM:608540
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10075	HUWE1	OMIM:309590
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	60529	ALX4	OMIM:613451
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9759	HDAC4	ORPHA:1001
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1806	DPYD	OMIM:274270
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1806	DPYD	ORPHA:1675
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3097	HIVEP2	OMIM:616977
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9837	GINS1	OMIM:617827
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79840	NHEJ1	ORPHA:169079
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55906	ZC4H2	OMIM:314580
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55906	ZC4H2	OMIM:301041
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6597	SMARCA4	ORPHA:1465
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6597	SMARCA4	OMIM:614609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6659	SOX4	ORPHA:1465
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6659	SOX4	OMIM:618506
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5977	DPF2	ORPHA:1465
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6601	SMARCC2	ORPHA:1465
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6602	SMARCD1	ORPHA:1465
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57492	ARID1B	ORPHA:1465
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57492	ARID1B	ORPHA:251056
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57492	ARID1B	OMIM:135900
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	196528	ARID2	ORPHA:1465
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6664	SOX11	ORPHA:1465
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6664	SOX11	OMIM:615866
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6709	SPTAN1	OMIM:613477
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6709	SPTAN1	OMIM:620538
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6709	SPTAN1	OMIM:620540
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51741	WWOX	OMIM:614322
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51741	WWOX	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51741	WWOX	OMIM:616211
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4358	MPV17	OMIM:256810
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	134701	RIPPLY2	ORPHA:2311
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10683	DLL3	ORPHA:2311
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3955	LFNG	ORPHA:2311
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84667	HES7	ORPHA:2311
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	145873	MESP2	ORPHA:2311
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	157570	ESCO2	ORPHA:2319
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	157570	ESCO2	OMIM:268300
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	157570	ESCO2	OMIM:216100
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	157570	ESCO2	ORPHA:3103
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	197131	UBR1	ORPHA:2315
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	197131	UBR1	OMIM:243800
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6792	CDKL5	ORPHA:505652
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6792	CDKL5	ORPHA:1934
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5723	PSPH	ORPHA:79350
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5723	PSPH	OMIM:614023
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6638	SNRPN	ORPHA:177907
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	64840	PORCN	OMIM:305600
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55180	LINS1	OMIM:614340
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80152	CENPT	OMIM:618702
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6697	SPR	ORPHA:70594
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6697	SPR	OMIM:612716
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	953	ENTPD1	OMIM:615683
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	953	ENTPD1	ORPHA:401810
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84628	NTNG2	OMIM:618718
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54802	TRIT1	OMIM:617873
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55733	HHAT	ORPHA:1422
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55733	HHAT	OMIM:600092
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4724	NDUFS4	OMIM:252010
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4724	NDUFS4	ORPHA:2609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84700	MYO18B	OMIM:616549
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8777	MPDZ	OMIM:615219
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8086	AAAS	OMIM:231550
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8086	AAAS	ORPHA:869
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2182	ACSL4	OMIM:300387
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51763	INPP5K	OMIM:617404
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	246329	STAC3	OMIM:255995
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8367	H4C5	OMIM:619950
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3703	STT3A	OMIM:615596
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3703	STT3A	OMIM:619714
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3703	STT3A	ORPHA:370921
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6873	TAF2	OMIM:615599
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1947	EFNB1	ORPHA:1520
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1355	COX15	OMIM:615119
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	81857	MED25	OMIM:616449
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	81857	MED25	ORPHA:464738
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5361	PLXNA1	OMIM:619955
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4047	LSS	ORPHA:2850
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4047	LSS	OMIM:618840
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	197	AHSG	ORPHA:2850
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3694	ITGB6	ORPHA:2850
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6536	SLC6A9	OMIM:617301
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	65082	VPS33A	OMIM:617303
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	28960	DCPS	OMIM:616459
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51684	SUFU	ORPHA:280200
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10559	SLC35A1	OMIM:603585
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80153	EDC3	OMIM:616460
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55870	ASH1L	OMIM:617796
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	25885	POLR1A	OMIM:616462
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	91869	RFT1	ORPHA:244310
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	91869	RFT1	OMIM:612015
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	816	CAMK2B	OMIM:617799
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	815	CAMK2A	OMIM:617798
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9326	ZNHIT3	ORPHA:2836
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5155	PDGFB	ORPHA:1980
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9213	XPR1	ORPHA:1980
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5159	PDGFRB	ORPHA:1980
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57462	MYORG	ORPHA:1980
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6575	SLC20A2	ORPHA:1980
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	58494	JAM2	ORPHA:1980
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23184	MESD	OMIM:618644
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55109	AGGF1	ORPHA:90308
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2626	GATA4	ORPHA:251071
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1656	DDX6	OMIM:618653
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1501	CTNND2	ORPHA:281
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9037	SEMA5A	ORPHA:281
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26057	ANKRD17	OMIM:619504
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3737	KCNA2	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1759	DNM1	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8120	AP3B2	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8120	AP3B2	OMIM:617276
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10991	SLC38A3	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10991	SLC38A3	OMIM:619881
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51343	FZR1	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3747	KCNC2	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1917	EEF1A2	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1917	EEF1A2	OMIM:616393
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23219	FBXO28	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2561	GABRB2	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2558	GABRA5	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2906	GRIN2D	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2906	GRIN2D	OMIM:617162
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1213	CLTC	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23334	SZT2	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	348980	HCN1	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	348980	HCN1	OMIM:618482
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	25977	NECAP1	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23241	PACS2	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	16	AARS1	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	16	AARS1	ORPHA:33364
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	16	AARS1	OMIM:616339
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9568	GABBR2	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9568	GABBR2	OMIM:617903
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2555	GABRA2	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2555	GABRA2	OMIM:618557
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55152	DALRD3	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55152	DALRD3	OMIM:618910
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26999	CYFIP2	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26999	CYFIP2	OMIM:618008
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4915	NTRK2	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	25973	PARS2	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23097	CDK19	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2257	FGF12	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5530	PPP3CA	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	22906	TRAK1	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	22906	TRAK1	OMIM:618201
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7532	YWHAG	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79876	UBA5	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6328	SCN3A	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6328	SCN3A	OMIM:617935
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6328	SCN3A	OMIM:617938
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10659	CELF2	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	774	CACNA1B	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2290	FOXG1	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2290	FOXG1	ORPHA:261144
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6506	SLC1A2	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6506	SLC1A2	OMIM:617105
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8867	SYNJ1	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3745	KCNB1	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	284111	SLC13A5	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	284111	SLC13A5	OMIM:615905
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	22866	CNKSR2	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	773	CACNA1A	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79947	DHDDS	ORPHA:442835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55623	THUMPD1	OMIM:619989
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57167	SALL4	ORPHA:233
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9935	MAFB	ORPHA:233
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1123	CHN1	ORPHA:233
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54888	NSUN2	ORPHA:235
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54888	NSUN2	OMIM:611091
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	29081	METTL5	OMIM:618665
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	29081	METTL5	ORPHA:2512
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7862	BRPF1	OMIM:617333
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1660	DHX9	OMIM:620988
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	286	ANK1	ORPHA:251066
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5860	QDPR	ORPHA:226
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5860	QDPR	OMIM:261630
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7385	UQCRC2	OMIM:615160
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7750	ZMYM2	OMIM:619522
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6621	SNAPC4	OMIM:620515
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57466	SCAF4	OMIM:620511
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57104	PNPLA2	OMIM:610717
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9922	IQSEC1	OMIM:618687
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	85365	ALG2	OMIM:607906
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	85365	ALG2	ORPHA:79326
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57479	PRR12	OMIM:619539
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10516	FBLN5	ORPHA:90348
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10516	FBLN5	OMIM:219100
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	404672	GTF2H5	ORPHA:33364
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	833	CARS1	ORPHA:33364
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	833	CARS1	OMIM:618891
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	136647	MPLKIP	ORPHA:33364
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	136647	MPLKIP	OMIM:234050
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6897	TARS1	ORPHA:33364
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2071	ERCC3	ORPHA:33364
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2071	ERCC3	ORPHA:220295
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2071	ERCC3	OMIM:610651
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2071	ERCC3	ORPHA:910
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6513	SLC2A1	ORPHA:1942
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6513	SLC2A1	ORPHA:168577
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6513	SLC2A1	OMIM:608885
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1173	AP2M1	ORPHA:1942
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	340533	NEXMIF	ORPHA:1942
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1106	CHD2	ORPHA:1942
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6529	SLC6A1	ORPHA:1942
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	29893	PSMC3IP	ORPHA:243
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	171568	POLR3H	ORPHA:243
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2516	NR5A1	ORPHA:243
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	125150	ZSWIM7	ORPHA:243
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9210	BMP15	ORPHA:243
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23514	SPIDR	ORPHA:243
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2492	FSHR	ORPHA:243
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	646	BNC1	ORPHA:243
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4438	MSH4	ORPHA:243
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8621	CDK13	OMIM:617360
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	133686	NADK2	OMIM:616034
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	133686	NADK2	ORPHA:431361
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5587	PRKD1	OMIM:617364
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	11338	U2AF2	OMIM:620535
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3736	KCNA1	ORPHA:1934
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9091	PIGQ	ORPHA:1934
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	140679	SLC32A1	ORPHA:1934
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	81603	TRIM8	ORPHA:1934
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	81603	TRIM8	OMIM:619428
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2902	GRIN1	ORPHA:1934
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2902	GRIN1	OMIM:614254
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2902	GRIN1	OMIM:619814
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2902	GRIN1	ORPHA:208447
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79751	SLC25A22	ORPHA:1934
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79751	SLC25A22	ORPHA:293181
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	150094	SIK1	ORPHA:1934
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2917	GRM7	ORPHA:1934
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2917	GRM7	OMIM:618922
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51227	PIGP	ORPHA:1934
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51227	PIGP	OMIM:617599
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4761	NEUROD2	ORPHA:1934
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54808	DYM	ORPHA:239
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54808	DYM	OMIM:223800
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54808	DYM	OMIM:607326
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10466	COG5	ORPHA:263487
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10466	COG5	OMIM:613612
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23314	SATB2	ORPHA:251028
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23314	SATB2	ORPHA:251019
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23314	SATB2	OMIM:612313
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4719	NDUFS1	OMIM:618226
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4719	NDUFS1	ORPHA:2609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	83548	COG3	OMIM:620546
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4729	NDUFV2	OMIM:618229
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4729	NDUFV2	ORPHA:2609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2627	GATA6	OMIM:600001
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1349	COX7B	OMIM:300887
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1349	COX7B	ORPHA:2556
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1349	COX7B	OMIM:309801
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4695	NDUFA2	OMIM:618235
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9342	SNAP29	ORPHA:66631
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9179	AP4M1	OMIM:612936
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9179	AP4M1	ORPHA:280763
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3192	HNRNPU	OMIM:617391
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3192	HNRNPU	ORPHA:238769
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	56915	EXOSC5	OMIM:619576
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8260	NAA10	OMIM:300855
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8260	NAA10	ORPHA:568
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8260	NAA10	OMIM:309800
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	340665	CYP26C1	ORPHA:398189
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5831	PYCR1	OMIM:612940
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	92344	GORAB	OMIM:231070
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6898	TAT	ORPHA:28378
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2898	GRIK2	OMIM:619580
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80324	PUS1	OMIM:600462
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80324	PUS1	ORPHA:2598
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10524	KAT5	OMIM:619103
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9451	EIF2AK3	OMIM:226980
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9451	EIF2AK3	ORPHA:1667
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8635	RNASET2	OMIM:612951
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5000	ORC4	OMIM:613800
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5000	ORC4	ORPHA:2554
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	81620	CDT1	OMIM:613804
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	81620	CDT1	ORPHA:2554
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23594	ORC6	OMIM:613803
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23594	ORC6	ORPHA:2554
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	990	CDC6	OMIM:613805
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	990	CDC6	ORPHA:2554
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10847	SRCAP	OMIM:619595
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55526	DHTKD1	OMIM:204750
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	526	ATP6V1B2	ORPHA:79500
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57465	TBC1D24	ORPHA:79500
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57465	TBC1D24	ORPHA:293181
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57465	TBC1D24	ORPHA:352596
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57465	TBC1D24	OMIM:220500
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57465	TBC1D24	OMIM:615338
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	90522	YIF1B	OMIM:619125
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55755	CDK5RAP2	OMIM:604804
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55755	CDK5RAP2	ORPHA:2512
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6472	SHMT2	OMIM:619121
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	90416	CCDC32	OMIM:619123
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9895	TECPR2	ORPHA:320385
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9895	TECPR2	OMIM:615031
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3739	KCNA4	OMIM:618284
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55835	CPAP	OMIM:608393
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55835	CPAP	OMIM:613676
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4683	NBN	ORPHA:647
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4683	NBN	OMIM:251260
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8665	EIF3F	OMIM:618295
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	221692	PHACTR1	OMIM:618298
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8517	IKBKG	OMIM:308300
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	11198	SUPT16H	ORPHA:261229
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57680	CHD8	ORPHA:261229
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10134	BCAP31	OMIM:300475
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10134	BCAP31	ORPHA:369939
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3763	KCNJ6	ORPHA:435628
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3763	KCNJ6	OMIM:614098
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	341640	FREM2	ORPHA:2052
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23426	GRIP1	ORPHA:2052
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10262	SF3B4	OMIM:154400
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8506	CNTNAP1	OMIM:618186
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	145173	B3GLCT	ORPHA:709
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	145173	B3GLCT	OMIM:261540
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7109	TRAPPC10	OMIM:620027
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7109	TRAPPC10	ORPHA:2512
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57468	SLC12A5	ORPHA:293181
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23236	PLCB1	ORPHA:293181
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3785	KCNQ2	ORPHA:293181
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57582	KCNT1	ORPHA:293181
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57582	KCNT1	OMIM:614959
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10274	STAG1	ORPHA:502434
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10274	STAG1	OMIM:617635
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1119	CHKA	OMIM:620023
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8496	PPFIBP1	OMIM:620024
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5111	PCNA	OMIM:615919
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5111	PCNA	ORPHA:438134
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2629	GBA1	OMIM:608013
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1636	ACE	OMIM:267430
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	183	AGT	OMIM:267430
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	185	AGTR1	OMIM:267430
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5972	REN	OMIM:267430
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54968	TMEM70	ORPHA:1194
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5689	PSMB1	OMIM:620038
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23431	AP4E1	OMIM:613744
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23431	AP4E1	ORPHA:280763
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10472	ZBTB18	ORPHA:36367
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10472	ZBTB18	OMIM:612337
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	63908	NAPB	OMIM:620033
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7298	TYMS	OMIM:620040
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1351	COX8A	OMIM:619059
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4509	MT-ATP8	ORPHA:254913
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	514	ATP5F1E	ORPHA:254913
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	513	ATP5F1D	ORPHA:254913
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4508	MT-ATP6	ORPHA:254913
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84833	ATP5MK	ORPHA:254913
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	91647	ATPAF2	ORPHA:254913
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	91647	ATPAF2	OMIM:604273
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	100131801	PET100	OMIM:619055
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10908	PNPLA6	ORPHA:3363
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5428	POLG	ORPHA:726
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7080	NKX2-1	ORPHA:209905
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	259232	NALCN	ORPHA:562528
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	259232	NALCN	OMIM:615419
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	259232	NALCN	ORPHA:371364
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4212	MEIS2	OMIM:600987
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4212	MEIS2	ORPHA:261190
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26053	AUTS2	ORPHA:352490
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26053	AUTS2	OMIM:615834
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10382	TUBB4A	OMIM:612438
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1802	DPH2	OMIM:620062
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	443	ASPA	OMIM:271900
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	149371	EXOC8	OMIM:619076
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	92667	MGME1	ORPHA:352447
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	92667	MGME1	OMIM:615084
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55027	HEATR3	OMIM:620072
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55027	HEATR3	ORPHA:124
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5700	PSMC1	OMIM:620071
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4089	SMAD4	OMIM:139210
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5591	PRKDC	OMIM:615966
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3187	HNRNPH1	OMIM:620083
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	22880	MORC2	OMIM:619090
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	22880	MORC2	ORPHA:466768
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4677	NARS1	OMIM:619091
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4677	NARS1	OMIM:619092
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	92154	MTSS2	OMIM:620086
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	197322	ACSF3	ORPHA:289504
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	63925	ZNF335	ORPHA:329228
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2703	GJA8	OMIM:612474
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2702	GJA5	OMIM:612474
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51053	GMNN	OMIM:616835
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51053	GMNN	ORPHA:2554
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10664	CTCF	OMIM:615502
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10664	CTCF	ORPHA:363611
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6307	MSMO1	OMIM:616834
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2200	FBN1	ORPHA:2462
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6497	SKI	ORPHA:2462
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6497	SKI	ORPHA:1606
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6497	SKI	OMIM:182212
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1828	DSG1	OMIM:615508
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3720	JARID2	OMIM:620098
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	579	NKX3-2	OMIM:613330
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	85358	SHANK3	OMIM:606232
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	549	AUH	ORPHA:67046
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55784	MCTP2	ORPHA:1596
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6301	SARS1	OMIM:617709
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6301	SARS1	ORPHA:2512
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55997	CFC1	OMIM:605376
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26224	FBXL3	OMIM:606220
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4204	MECP2	OMIM:300055
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4204	MECP2	ORPHA:209370
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4204	MECP2	OMIM:300260
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5925	RB1	ORPHA:1587
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	27315	PGAP2	OMIM:614207
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	83987	CCDC8	OMIM:614205
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84342	COG8	OMIM:611182
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80185	TTI2	OMIM:615541
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80185	TTI2	ORPHA:391307
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55644	OSGEP	OMIM:617729
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55644	OSGEP	ORPHA:2065
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2464	FRA16E	OMIM:136570
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	22931	RAB18	OMIM:614222
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	22931	RAB18	ORPHA:2510
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23443	SLC35A3	OMIM:615553
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6925	TCF4	ORPHA:2896
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6925	TCF4	OMIM:610954
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54805	CNNM2	OMIM:616418
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6591	SNAI2	ORPHA:2884
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3815	KIT	ORPHA:2884
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3756	KCNH1	ORPHA:420561
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1376	CPT2	OMIM:608836
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10717	AP4B1	ORPHA:280763
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10717	AP4B1	OMIM:614066
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	11154	AP4S1	ORPHA:280763
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	11154	AP4S1	OMIM:614067
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9320	TRIP12	OMIM:617752
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1663	DDX11	OMIM:613398
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2186	BPTF	OMIM:617755
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5430	POLR2A	OMIM:618603
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	547	KIF1A	OMIM:614255
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23019	CNOT1	OMIM:618500
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55823	VPS11	ORPHA:466934
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55823	VPS11	OMIM:616683
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6777	STAT5B	OMIM:618985
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4897	NRCAM	OMIM:619833
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5927	KDM5A	OMIM:620820
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23498	HAAO	OMIM:617660
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	161582	DNAAF4	OMIM:615482
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	65993	MRPS34	OMIM:617664
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80816	ASXL3	OMIM:615485
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80816	ASXL3	ORPHA:352577
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8942	KYNU	OMIM:617661
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	387787	LIPT2	OMIM:617668
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1841	DTYMK	OMIM:619847
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5424	POLD1	OMIM:620836
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3149	HMGB3	OMIM:300915
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2132	EXT2	ORPHA:466926
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2132	EXT2	OMIM:616682
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	284403	WDR62	OMIM:604317
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	284403	WDR62	ORPHA:2512
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	288	ANK3	OMIM:615493
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23250	ATP11A	OMIM:619851
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7994	KAT6A	ORPHA:457193
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7994	KAT6A	OMIM:616268
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1716	DGUOK	OMIM:251880
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8550	MAPKAPK5	OMIM:619869
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	11193	WBP4	OMIM:620852
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23007	PLCH1	ORPHA:93925
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23007	PLCH1	OMIM:619895
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	788	SLC25A20	ORPHA:159
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8558	CDK10	OMIM:617694
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51692	CPSF3	OMIM:619876
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	116115	ZNF526	OMIM:619877
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5590	PRKCZ	ORPHA:1606
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2563	GABRD	ORPHA:1606
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23013	SPEN	ORPHA:1606
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23013	SPEN	OMIM:619312
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8510	MMP23B	ORPHA:1606
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7798	LUZP1	ORPHA:1606
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10630	PDPN	ORPHA:1606
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10277	UBE4B	ORPHA:1606
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8514	KCNAB2	ORPHA:1606
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	63976	PRDM16	ORPHA:1606
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54897	CASZ1	ORPHA:1606
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	285362	SUMF1	ORPHA:585
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	83479	DDX59	ORPHA:2919
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	83479	DDX59	OMIM:174300
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	56098	PCDHGC4	OMIM:619880
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4285	MIPEP	OMIM:617228
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	641	BLM	OMIM:210900
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79633	FAT4	ORPHA:314679
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8642	DCHS1	ORPHA:314679
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57192	MCOLN1	ORPHA:578
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57192	MCOLN1	OMIM:252650
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3798	KIF5A	OMIM:617235
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57679	ALS2	OMIM:205100
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57679	ALS2	ORPHA:300605
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8565	YARS1	OMIM:619418
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	374969	SVBP	OMIM:618569
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84295	PHF6	ORPHA:127
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84295	PHF6	OMIM:301900
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6138	RPL15	ORPHA:124
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6224	RPS20	ORPHA:124
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6165	RPL35A	ORPHA:124
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6132	RPL8	ORPHA:124
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6223	RPS19	ORPHA:124
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6223	RPS19	OMIM:105650
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6232	RPS27	ORPHA:124
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6160	RPL31	ORPHA:124
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6201	RPS7	ORPHA:124
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6155	RPL27	ORPHA:124
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6234	RPS28	ORPHA:124
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6135	RPL11	ORPHA:124
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6229	RPS24	ORPHA:124
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6125	RPL5	ORPHA:124
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6204	RPS10	ORPHA:124
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2623	GATA1	ORPHA:124
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6133	RPL9	ORPHA:124
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6231	RPS26	ORPHA:124
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	11224	RPL35	ORPHA:124
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6218	RPS17	ORPHA:124
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6154	RPL26	ORPHA:124
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6210	RPS15A	ORPHA:124
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	90121	TSR2	ORPHA:124
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6141	RPL18	ORPHA:124
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6235	RPS29	ORPHA:124
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51816	ADA2	ORPHA:124
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	165918	RNF168	OMIM:611943
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	165918	RNF168	ORPHA:420741
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51574	LARP7	OMIM:615071
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	286053	NSMCE2	OMIM:617253
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84894	LINGO1	OMIM:618103
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	123606	NIPA1	ORPHA:261183
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7283	TUBG1	ORPHA:261183
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7283	TUBG1	OMIM:615412
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	81614	NIPA2	ORPHA:261183
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8473	OGT	OMIM:300997
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	53371	NUP54	OMIM:620427
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6418	SET	OMIM:618106
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9526	MPDU1	OMIM:609180
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1120	CHKB	OMIM:602541
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7707	ZNF148	OMIM:617260
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6299	SALL1	OMIM:107480
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3778	KCNMA1	OMIM:618596
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	112939	NACC1	ORPHA:500545
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23524	SRRM2	OMIM:620439
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5053	PAH	OMIM:261600
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5053	PAH	ORPHA:79254
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5053	PAH	ORPHA:2209
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	114803	MYSM1	OMIM:618116
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4041	LRP5	OMIM:259770
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4041	LRP5	ORPHA:891
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3039	HBA1	ORPHA:98791
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3040	HBA2	ORPHA:98791
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51132	RLIM	OMIM:300978
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4998	ORC1	OMIM:224690
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4998	ORC1	ORPHA:2554
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	27341	RRP7A	OMIM:619453
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3376	IARS1	ORPHA:541423
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9675	TTI1	OMIM:620445
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1312	COMT	ORPHA:567
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	221037	JMJD1C	ORPHA:567
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2812	GP1BB	ORPHA:567
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6239	RREB1	ORPHA:567
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6899	TBX1	ORPHA:567
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6899	TBX1	ORPHA:1727
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6899	TBX1	OMIM:192430
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6899	TBX1	OMIM:188400
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7290	HIRA	ORPHA:567
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9632	SEC24C	ORPHA:567
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7353	UFD1	ORPHA:567
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	421	ARVCF	ORPHA:567
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5077	PAX3	OMIM:148820
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5077	PAX3	ORPHA:896
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54880	BCOR	ORPHA:568
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54880	BCOR	OMIM:300166
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54880	BCOR	OMIM:309800
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	538	ATP7A	ORPHA:565
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	538	ATP7A	OMIM:309400
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79600	TCTN1	ORPHA:564
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79770	TXNDC15	ORPHA:564
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	27077	B9D1	ORPHA:564
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23258	DENND5A	OMIM:617281
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	92949	ADAMTSL1	ORPHA:521445
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4548	MTR	OMIM:250940
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6874	TAF4	OMIM:620450
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79736	TEFM	OMIM:620451
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84065	TMEM222	OMIM:619470
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57187	THOC2	OMIM:300957
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57187	THOC2	ORPHA:457240
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10526	IPO8	OMIM:619472
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	348180	CTU2	OMIM:618142
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55651	NHP2	OMIM:224230
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6711	SPTBN1	OMIM:619475
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3643	INSR	ORPHA:508
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2131	EXT1	ORPHA:502
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7227	TRPS1	ORPHA:502
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	374879	ZNF699	OMIM:619488
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	60676	PAPPA2	OMIM:619489
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9373	PLAA	ORPHA:521426
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7284	TUFM	OMIM:610678
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	407975	MIR17HG	ORPHA:391646
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55599	RNPC3	OMIM:618160
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5805	PTS	OMIM:261640
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84231	TRAF7	OMIM:618164
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	63899	NSUN3	OMIM:619012
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7157	TP53	OMIM:618165
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2193	FARSA	OMIM:619013
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5557	PRIM1	OMIM:620005
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54936	ADPRS	OMIM:618170
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	64432	MRPS25	OMIM:619025
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84842	HPDL	OMIM:619026
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51002	TPRKB	ORPHA:2065
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8270	LAGE3	ORPHA:2065
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55294	FBXW7	OMIM:620012
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1183	CLCN4	OMIM:300114
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1183	CLCN4	ORPHA:485350
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	123263	MTFMT	OMIM:614947
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10667	FARS2	OMIM:614946
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4010	LMX1B	ORPHA:495818
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6812	STXBP1	ORPHA:495818
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10978	CLP1	OMIM:615803
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10225	CD96	OMIM:211750
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10225	CD96	ORPHA:1308
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80204	FBXO11	OMIM:618089
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1509	CTSD	OMIM:610127
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23325	WASHC4	OMIM:615817
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57531	HACE1	ORPHA:464282
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57531	HACE1	OMIM:616756
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7156	TOP3A	OMIM:618097
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1009	CDH11	ORPHA:1299
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54496	PRMT7	ORPHA:464288
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54496	PRMT7	OMIM:617157
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5063	PAK3	OMIM:300558
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10056	FARSB	OMIM:613658
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54499	TMCO1	OMIM:213980
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	440138	ALG11	OMIM:613661
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	440138	ALG11	ORPHA:280071
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5422	POLA1	ORPHA:163976
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5422	POLA1	OMIM:301030
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55275	VPS53	OMIM:615851
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51067	YARS2	ORPHA:2598
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	28962	OSTM1	OMIM:259720
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79228	THOC6	OMIM:613680
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2033	EP300	OMIM:613684
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2033	EP300	OMIM:180849
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5830	PEX5	OMIM:616716
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5830	PEX5	ORPHA:912
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2245	FGD1	OMIM:305400
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5648	MASP1	OMIM:257920
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26115	TANC2	OMIM:618906
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5160	PDHA1	OMIM:312170
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5160	PDHA1	ORPHA:79243
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54101	RIPK4	ORPHA:1234
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	50	ACO2	OMIM:614559
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10982	MAPRE2	OMIM:616734
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10982	MAPRE2	ORPHA:2505
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3176	HNMT	OMIM:616739
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4131	MAP1B	OMIM:618918
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3796	KIF2A	OMIM:615411
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1911	PHC1	OMIM:615414
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1911	PHC1	ORPHA:2512
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3759	KCNJ2	OMIM:170390
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8318	CDC45	ORPHA:2554
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54539	NDUFB11	ORPHA:2556
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54539	NDUFB11	ORPHA:2609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54539	NDUFB11	OMIM:309801
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3052	HCCS	ORPHA:2556
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3052	HCCS	OMIM:309801
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57511	COG6	OMIM:614576
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57511	COG6	OMIM:615328
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	29980	DONSON	OMIM:617604
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	29980	DONSON	OMIM:251230
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84172	POLR1B	OMIM:618939
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	60	ACTB	OMIM:243310
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	60	ACTB	ORPHA:2995
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9997	SCO2	OMIM:604377
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	81689	ISCA1	OMIM:617613
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1861	TOR1A	OMIM:618947
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	64857	PLEKHG2	OMIM:616763
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51520	LARS1	OMIM:615438
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4329	ALDH6A1	OMIM:614105
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80781	COL18A1	OMIM:267750
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7343	UBTF	ORPHA:500180
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55617	TASP1	OMIM:618950
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	60528	ELAC2	OMIM:615440
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	28957	MRPS28	OMIM:618958
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3832	KIF11	ORPHA:2526
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3832	KIF11	OMIM:152950
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7991	TUSC3	OMIM:611093
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4763	NF1	ORPHA:139474
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1804	DPP6	ORPHA:2514
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1804	DPP6	OMIM:616311
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8192	CLPP	OMIM:614129
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1146	CHRNG	ORPHA:2990
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	128637	TBC1D20	ORPHA:2510
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	71	ACTG1	ORPHA:2995
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55262	TRAPPC14	ORPHA:2512
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	163786	SASS6	ORPHA:2512
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4176	MCM7	ORPHA:2512
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80254	CEP63	ORPHA:2512
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79023	NUP37	ORPHA:2512
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23310	NCAPD3	ORPHA:2512
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23310	NCAPD3	OMIM:617984
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79648	MCPH1	ORPHA:2512
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23141	ANKLE2	ORPHA:2512
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7453	WARS1	ORPHA:2512
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9662	CEP135	ORPHA:2512
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57082	KNL1	ORPHA:2512
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1021	CDK6	ORPHA:2512
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55367	PIDD1	OMIM:619827
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10749	KIF1C	ORPHA:397946
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	25915	NDUFAF3	ORPHA:2609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51103	NDUFAF1	ORPHA:2609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	91942	NDUFAF2	ORPHA:2609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51300	TIMMDC1	ORPHA:2609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4716	NDUFB10	ORPHA:2609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4723	NDUFV1	ORPHA:2609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55572	FOXRED1	ORPHA:2609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	284184	NDUFAF8	ORPHA:2609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55863	TMEM126B	ORPHA:2609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4535	MT-ND1	ORPHA:2609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4537	MT-ND3	ORPHA:2609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4694	NDUFA1	ORPHA:2609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4720	NDUFS2	ORPHA:2609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4726	NDUFS6	ORPHA:2609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4728	NDUFS8	ORPHA:2609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4722	NDUFS3	ORPHA:2609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79133	NDUFAF5	ORPHA:2609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	126328	NDUFA11	ORPHA:2609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4709	NDUFB3	ORPHA:2609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80224	NUBPL	ORPHA:2609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	29078	NDUFAF4	ORPHA:2609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	374291	NDUFS7	ORPHA:2609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4536	MT-ND2	ORPHA:2609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4715	NDUFB9	ORPHA:2609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	104	ADARB1	OMIM:618862
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	60684	TRAPPC11	OMIM:615356
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	60684	TRAPPC11	ORPHA:869
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	60684	TRAPPC11	ORPHA:369840
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10973	ASCC3	OMIM:620700
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3020	H3-3A	OMIM:619720
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3021	H3-3B	OMIM:619721
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10300	KATNB1	OMIM:616212
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4056	LTC4S	OMIM:614037
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	72	ACTG2	ORPHA:2604
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	472	ATM	OMIM:208900
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5610	EIF2AK2	OMIM:618877
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3781	KCNN2	OMIM:619725
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	137492	VPS37A	ORPHA:319199
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2590	GALNT2	OMIM:618885
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9698	PUM1	OMIM:620719
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51319	RSRC1	OMIM:618402
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23761	PISD	OMIM:618889
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7020	TFAP2A	OMIM:113620
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55703	POLR3B	OMIM:619742
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5442	POLRMT	OMIM:619743
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4297	KMT2A	ORPHA:319182
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4297	KMT2A	OMIM:605130
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79731	NARS2	OMIM:616239
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79158	GNPTAB	OMIM:252600
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	339983	NAT8L	OMIM:614063
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8879	SGPL1	OMIM:617575
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57282	SLC4A10	OMIM:620746
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8364	H4C3	OMIM:619758
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	145258	GSC	OMIM:602471
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	53335	BCL11A	OMIM:617101
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54487	DGCR8	OMIM:192430
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8214	DGCR6	OMIM:192430
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8220	ESS2	OMIM:192430
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9993	DGCR2	OMIM:192430
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10463	SLC30A9	OMIM:617595
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8295	TRRAP	OMIM:618454
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	81570	CLPB	OMIM:616271
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	221078	NSUN6	OMIM:620779
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	27145	FILIP1	OMIM:620775
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	78987	CRELD1	OMIM:620771
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9900	SV2A	OMIM:620772
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84706	GPT2	OMIM:616281
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84706	GPT2	ORPHA:477673
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54892	NCAPG2	OMIM:618460
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51728	POLR3K	OMIM:619310
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79903	NAA60	OMIM:620786
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6650	CAPN15	OMIM:619318
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	221496	LEMD2	OMIM:619322
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	29998	BICRA	OMIM:619325
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10073	SNUPN	OMIM:620793
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2530	FUT8	OMIM:618005
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7965	AIMP2	OMIM:618006
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4141	MARS1	OMIM:620323
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8091	HMGA2	ORPHA:94063
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23592	LEMD3	ORPHA:94063
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26276	VPS33B	OMIM:208085
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	372	ARCN1	OMIM:617164
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54681	P4HTM	OMIM:618493
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5283	PIGH	OMIM:618010
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9343	EFTUD2	OMIM:610536
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	668	FOXL2	OMIM:110100
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9791	PTDSS1	OMIM:151050
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	37	ACADVL	OMIM:201475
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5281	PIGF	OMIM:619356
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1387	CREBBP	OMIM:180849
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1387	CREBBP	ORPHA:592574
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57514	ARHGAP31	OMIM:100300
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	29926	GMPPA	ORPHA:869
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10681	GNB5	OMIM:617182
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79143	MBOAT7	OMIM:617188
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	627	BDNF	ORPHA:893
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6904	TBCD	OMIM:617193
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23554	TSPAN12	ORPHA:891
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79797	ZNF408	ORPHA:891
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8322	FZD4	ORPHA:891
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2733	GLE1	OMIM:611890
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10295	BCKDK	OMIM:614923
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	11011	TLK2	OMIM:618050
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5965	RECQL	OMIM:620370
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23040	MYT1L	ORPHA:647799
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	267	AMFR	OMIM:620379
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	90952	ESAM	OMIM:620371
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4702	NDUFA8	OMIM:619272
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10128	LRPPRC	OMIM:220111
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	81555	YIPF5	OMIM:619278
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55532	SLC30A10	ORPHA:309854
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9442	MED27	OMIM:619286
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	56246	MRAP	OMIM:607398
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	64324	NSD1	ORPHA:228415
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1353	COX11	OMIM:620275
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3899	AFF3	OMIM:619297
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	36	ACADSB	OMIM:610006
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8546	AP3B1	OMIM:608233
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51199	NIN	OMIM:614851
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51199	NIN	ORPHA:319675
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4338	MOCS2	OMIM:252160
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	197257	LDHD	OMIM:245450
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6804	STX1A	ORPHA:904
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7461	CLIP2	ORPHA:904
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84277	DNAJC30	ORPHA:904
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8468	FKBP6	ORPHA:904
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5982	RFC2	ORPHA:904
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2969	GTF2I	ORPHA:904
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3984	LIMK1	ORPHA:904
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9569	GTF2IRD1	ORPHA:904
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	155382	VPS37D	ORPHA:904
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	155368	METTL27	ORPHA:904
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	114049	BUD23	ORPHA:904
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7458	EIF4H	ORPHA:904
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84163	GTF2IRD2	ORPHA:904
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26608	TBL2	ORPHA:904
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	653361	NCF1	ORPHA:904
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	135886	TMEM270	ORPHA:904
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9031	BAZ1B	ORPHA:904
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	27286	SRPX2	ORPHA:98889
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	375748	ERCC6L2	OMIM:615715
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	93210	PGAP3	OMIM:615716
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80208	SPG11	ORPHA:300605
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10280	SIGMAR1	ORPHA:300605
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10558	SPTLC1	ORPHA:300605
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6628	SNRPB	ORPHA:1393
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6628	SNRPB	OMIM:117650
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5295	PIK3R1	ORPHA:397596
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	162417	NAGS	ORPHA:927
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	50628	GEMIN4	OMIM:617913
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5824	PEX19	OMIM:614886
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5824	PEX19	ORPHA:912
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	867	CBL	OMIM:613563
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55670	PEX26	ORPHA:912
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8504	PEX3	ORPHA:912
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8799	PEX11B	ORPHA:912
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9409	PEX16	ORPHA:912
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5190	PEX6	ORPHA:912
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5193	PEX12	ORPHA:912
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5194	PEX13	ORPHA:912
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5195	PEX14	ORPHA:912
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5192	PEX10	ORPHA:912
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7507	XPA	ORPHA:910
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7507	XPA	OMIM:278700
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7508	XPC	ORPHA:910
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1643	DDB2	ORPHA:910
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4173	MCM4	OMIM:609981
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55187	VPS13D	OMIM:607317
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5859	QARS1	OMIM:615760
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79631	EFL1	OMIM:617941
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5429	POLH	OMIM:278750
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	30008	EFEMP2	OMIM:614437
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2058	EPRS1	OMIM:617951
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	20	ABCA2	OMIM:618808
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1729	DIAPH1	OMIM:616632
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	175	AGA	OMIM:208400
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9419	CRIPT	OMIM:615789
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2584	GALK1	ORPHA:79237
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7874	USP7	ORPHA:500055
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	11019	LIAS	OMIM:614462
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4337	MOCS1	OMIM:252150
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3704	ITPA	OMIM:616647
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	56270	WDR45B	OMIM:617977
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54870	QRICH1	OMIM:617982
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6911	TBX6	ORPHA:1797
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23397	NCAPH	OMIM:617985
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6509	SLC1A4	OMIM:616657
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54676	GTPBP2	OMIM:617988
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	158326	FREM1	OMIM:614485
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	200205	IBA57	OMIM:615330
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	25974	MMACHC	ORPHA:79282
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	25974	MMACHC	OMIM:277400
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1807	DPYS	OMIM:222748
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9203	ZMYM3	OMIM:301111
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23133	PHF8	OMIM:300263
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51733	UPB1	OMIM:613161
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23001	WDFY3	OMIM:617520
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	35	ACADS	ORPHA:26792
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	221927	BRAT1	OMIM:614498
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55753	OGDHL	OMIM:619701
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5052	PRDX1	OMIM:277400
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	91452	ACBD5	OMIM:618863
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51660	MPC1	OMIM:614741
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54862	CC2D1A	OMIM:608443
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	203190	LGI3	OMIM:620007
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	22827	PUF60	ORPHA:508498
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	22827	PUF60	ORPHA:508488
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	22827	PUF60	OMIM:615583
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2077	ERF	OMIM:600775
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10735	STAG2	OMIM:301043
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3145	HMBS	OMIM:620704
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	220	ALDH1A3	OMIM:615113
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8573	CASK	OMIM:300749
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8573	CASK	ORPHA:163937
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	775	CACNA1C	OMIM:620029
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84282	RNF135	ORPHA:137634
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55605	KIF21A	ORPHA:45358
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	347733	TUBB2B	ORPHA:45358
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7846	TUBA1A	ORPHA:45358
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7846	TUBA1A	ORPHA:171680
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	401	PHOX2A	ORPHA:45358
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10381	TUBB3	ORPHA:45358
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10381	TUBB3	ORPHA:300570
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84570	COL25A1	ORPHA:45358
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6334	SCN8A	OMIM:614306
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1788	DNMT3A	OMIM:615879
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51807	TUBA8	ORPHA:250972
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54820	NDE1	ORPHA:2177
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8854	ALDH1A2	OMIM:620025
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	11267	SNF8	OMIM:620783
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	256297	PTF1A	OMIM:609069
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	256297	PTF1A	ORPHA:65288
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55593	OTUD5	OMIM:301056
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3190	HNRNPK	ORPHA:453504
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3190	HNRNPK	ORPHA:352665
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8443	GNPAT	OMIM:222765
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8882	ZPR1	OMIM:619321
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	473	RERE	OMIM:616975
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55215	FANCI	OMIM:609053
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8085	KMT2D	ORPHA:2322
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7403	KDM6A	ORPHA:2322
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10730	YME1L1	OMIM:617302
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	25914	RTTN	OMIM:614833
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	25914	RTTN	ORPHA:468631
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5080	PAX6	OMIM:165550
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5080	PAX6	ORPHA:250923
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5080	PAX6	OMIM:106210
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	29072	SETD2	OMIM:620157
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	29072	SETD2	OMIM:620155
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	29954	POMT2	OMIM:236670
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	29954	POMT2	ORPHA:370959
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79147	FKRP	OMIM:236670
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79147	FKRP	ORPHA:370959
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2218	FKTN	OMIM:236670
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10585	POMT1	OMIM:236670
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10585	POMT1	ORPHA:370959
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9215	LARGE1	OMIM:236670
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23499	MACF1	ORPHA:572013
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	387119	CEP85L	ORPHA:572013
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4784	NFIX	OMIM:602535
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9968	MED12	ORPHA:93932
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5015	OTX2	OMIM:610125
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5015	OTX2	ORPHA:95494
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5015	OTX2	ORPHA:3157
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1063	CENPF	OMIM:243605
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10157	AASS	OMIM:238700
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9401	RECQL4	OMIM:218600
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	64121	RRAGC	OMIM:620609
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80173	IFT74	OMIM:619582
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	25930	PTPN23	OMIM:618890
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	132158	GLYCTK	OMIM:220120
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4990	SIX6	OMIM:206900
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6657	SOX2	OMIM:206900
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6657	SOX2	ORPHA:3157
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1974	EIF4A2	OMIM:620455
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26834	RNU4-2	OMIM:620851
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4747	NEFL	ORPHA:101085
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	64864	RFX7	OMIM:620330
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8820	HESX1	OMIM:182230
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8820	HESX1	ORPHA:226307
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8820	HESX1	ORPHA:95494
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8820	HESX1	ORPHA:3157
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	50801	KCNK4	OMIM:618381
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7025	NR2F1	ORPHA:401777
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23126	POGZ	OMIM:616364
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23259	DDHD2	OMIM:615033
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2296	FOXC1	ORPHA:250923
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54765	TRIM44	ORPHA:250923
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7737	RNF113A	OMIM:300953
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5626	PROP1	ORPHA:226307
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5626	PROP1	ORPHA:95494
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	89884	LHX4	ORPHA:226307
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	89884	LHX4	ORPHA:95494
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8022	LHX3	ORPHA:226307
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5449	POU1F1	ORPHA:226307
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5449	POU1F1	ORPHA:95494
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2550	GABBR1	OMIM:620502
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8405	SPOP	OMIM:618828
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5293	PIK3CD	ORPHA:221139
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	90417	KNSTRN	ORPHA:221139
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	415	ARSL	ORPHA:79345
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2736	GLI2	OMIM:610829
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2736	GLI2	ORPHA:95494
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55210	ATAD3A	ORPHA:496790
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57459	GATAD2B	ORPHA:363686
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	29925	GMPPB	ORPHA:370959
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84197	POMK	ORPHA:370959
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55624	POMGNT1	ORPHA:370959
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3170	FOXA2	ORPHA:95494
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5605	MAP2K2	OMIM:615280
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2222	FDFT1	OMIM:618156
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3913	LAMB2	OMIM:614199
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	29123	ANKRD11	ORPHA:261250
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2893	GRIA4	OMIM:617864
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80210	ARMC9	OMIM:617622
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5500	PPP1CB	OMIM:617506
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57688	ZSWIM6	OMIM:603671
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4208	MEF2C	ORPHA:228384
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4081	MAB21L1	ORPHA:495875
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	440	ASNS	OMIM:615574
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6651	SON	ORPHA:500150
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51360	MBTPS2	ORPHA:85284
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	729920	CRPPA	OMIM:614643
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9928	KIF14	OMIM:617914
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	148789	B3GALNT2	OMIM:615181
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7543	ZFX	OMIM:301118
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7545	ZIC1	OMIM:618736
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5518	PPP2R1A	ORPHA:457284
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2260	FGFR1	ORPHA:3157
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	128674	PROKR2	ORPHA:3157
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6658	SOX3	ORPHA:3157
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9915	ARNT2	ORPHA:3157
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7490	WT1	OMIM:106210
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3476	IGBP1	OMIM:300472
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3476	IGBP1	ORPHA:52055
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7528	YY1	ORPHA:506358
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1024	CDK8	OMIM:618748
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10992	SF3B2	OMIM:164210
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2731	GLDC	OMIM:605899
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	116931	MED12L	OMIM:618872
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5173	PDYN	OMIM:610245
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2018	EMX2	OMIM:269160
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	22872	SEC31A	OMIM:618651
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55012	PPP2R3C	OMIM:618419
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51021	MRPS16	OMIM:610498
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9653	HS2ST1	OMIM:619194
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	129563	DIS3L2	OMIM:267000
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23512	SUZ12	OMIM:618786
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4519	MT-CYB	ORPHA:137675
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6558	SLC12A2	OMIM:619083
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	197258	FCSK	OMIM:618324
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2678	GGT1	OMIM:231950
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	64919	BCL11B	OMIM:617237
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5881	RAC3	OMIM:618577
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	164	AP1G1	OMIM:619548
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10126	DNAL4	ORPHA:238722
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9423	NTN1	ORPHA:238722
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9423	NTN1	OMIM:157600
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4558	MT-TF	ORPHA:550
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4572	MT-TQ	ORPHA:550
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4512	MT-CO1	ORPHA:550
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4513	MT-CO2	ORPHA:550
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4514	MT-CO3	ORPHA:550
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4578	MT-TW	ORPHA:550
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4540	MT-ND5	ORPHA:550
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4541	MT-ND6	ORPHA:550
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4538	MT-ND4	ORPHA:550
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4574	MT-TS1	ORPHA:550
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4575	MT-TS2	ORPHA:550
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4564	MT-TH	ORPHA:550
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23030	KDM4B	OMIM:619320
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3313	HSPA9	OMIM:616854
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2657	GDF1	OMIM:208530
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1000	CDH2	OMIM:618929
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1583	CYP11A1	ORPHA:289548
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1583	CYP11A1	ORPHA:168558
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7161	TP73	OMIM:619466
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2009	EML1	OMIM:600348
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5395	PMS2	OMIM:619101
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8092	ALX1	ORPHA:306542
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26576	SRPK3	OMIM:301134
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	113246	C12orf57	OMIM:218340
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4781	NFIB	OMIM:618286
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	124454	EARS2	OMIM:614924
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4292	MLH1	OMIM:276300
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8449	DHX16	OMIM:618733
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	58499	ZNF462	OMIM:618619
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	283450	HECTD4	OMIM:620250
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	27031	NPHP3	OMIM:267010
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	27031	NPHP3	OMIM:208540
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	27031	NPHP3	ORPHA:3032
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4927	NUP88	ORPHA:994
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4654	MYOD1	ORPHA:994
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54551	MAGEL2	ORPHA:994
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5913	RAPSN	ORPHA:994
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6572	SLC18A3	ORPHA:994
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	285489	DOK7	ORPHA:994
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4534	MTM1	OMIM:310400
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	132884	EVC2	OMIM:225500
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2121	EVC	OMIM:225500
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1028	CDKN1C	OMIM:130650
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3481	IGF2	OMIM:130650
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3784	KCNQ1	OMIM:130650
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10984	KCNQ1OT1	OMIM:130650
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4750	NEK1	OMIM:263520
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26160	IFT172	OMIM:615630
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2355	FOSL2	OMIM:620789
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84320	ACBD6	OMIM:620785
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4867	NPHP1	OMIM:609583
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4867	NPHP1	ORPHA:220497
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79644	SRD5A3	OMIM:612379
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10501	SEMA6B	OMIM:618876
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1801	DPH1	OMIM:616901
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1801	DPH1	ORPHA:459061
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	22897	CEP164	OMIM:614845
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54974	THG1L	OMIM:618800
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80856	LNPK	OMIM:618090
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26278	SACS	ORPHA:98
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10804	GJB6	ORPHA:477
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2706	GJB2	ORPHA:477
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2615	LRRC32	OMIM:619074
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4352	MPL	OMIM:604498
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2892	GRIA3	ORPHA:364028
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4361	MRE11	ORPHA:251347
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10236	HNRNPR	OMIM:620073
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51611	DPH5	OMIM:620070
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	284217	LAMA1	OMIM:615960
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4123	MAN2C1	OMIM:619775
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79645	CLXN	OMIM:620642
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10079	ATP9A	OMIM:620242
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	129285	PPP1R21	OMIM:619383
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2719	GPC3	OMIM:312870
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2239	GPC4	OMIM:312870
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5908	RAP1B	OMIM:620654
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6095	RORA	OMIM:618060
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	11113	CIT	OMIM:617090
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	27183	VPS4A	OMIM:619273
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	29899	GPSM2	OMIM:604213
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	11253	MAN1B1	ORPHA:397941
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	11253	MAN1B1	OMIM:614202
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	83700	JAM3	OMIM:613730
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55627	SMPD4	OMIM:618622
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55325	UFSP2	OMIM:620028
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1736	DKC1	OMIM:305000
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1736	DKC1	ORPHA:3322
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5457	POU4F1	ORPHA:314647
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23261	CAMTA1	ORPHA:314647
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23261	CAMTA1	OMIM:614756
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	85300	ATCAY	ORPHA:94122
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	85300	ATCAY	OMIM:601238
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57176	VARS2	OMIM:615917
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9690	UBE3C	OMIM:620270
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79848	CSPP1	ORPHA:397715
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9786	KIAA0586	ORPHA:397715
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4983	OPHN1	OMIM:300486
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4983	OPHN1	ORPHA:137831
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55112	DYNC2I1	ORPHA:93271
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57560	IFT80	ORPHA:93271
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57539	WDR35	ORPHA:93271
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79659	DYNC2H1	ORPHA:93271
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	89891	DYNC2I2	ORPHA:93271
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80232	WDR26	ORPHA:513456
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5932	RBBP8	OMIM:606744
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51506	UFC1	OMIM:618076
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84892	POMGNT2	OMIM:614830
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84892	POMGNT2	ORPHA:899
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55690	PACS1	OMIM:615009
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55690	PACS1	ORPHA:329224
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6507	SLC1A3	OMIM:612656
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55780	ERMARD	ORPHA:75857
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7015	TERT	OMIM:613989
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7015	TERT	ORPHA:3322
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7015	TERT	OMIM:127550
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3735	KARS1	ORPHA:3240
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	535	ATP6V0A1	OMIM:619971
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26277	TINF2	OMIM:613990
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26277	TINF2	ORPHA:3322
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26277	TINF2	OMIM:268130
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26277	TINF2	OMIM:127550
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8913	CACNA1G	OMIM:618087
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1020	CDK5	OMIM:616342
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	83871	RAB34	OMIM:620718
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5119	CHMP1A	OMIM:614961
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7436	VLDLR	OMIM:224050
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6773	STAT2	OMIM:618886
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8289	ARID1A	OMIM:614607
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10939	AFG3L2	ORPHA:313772
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6598	SMARCB1	OMIM:614608
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	157680	VPS13B	OMIM:216550
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	22	ABCB7	OMIM:301310
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9839	ZEB2	ORPHA:261552
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9839	ZEB2	ORPHA:261537
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9896	FIG4	ORPHA:3472
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9896	FIG4	OMIM:216340
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55697	VAC14	ORPHA:3472
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	652	BMP4	OMIM:607932
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57498	KIDINS220	OMIM:619501
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23312	DMXL2	OMIM:616113
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23312	DMXL2	ORPHA:453533
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5073	PARN	OMIM:616353
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5073	PARN	ORPHA:3322
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23036	ZNF292	OMIM:619188
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84314	TMEM107	OMIM:617562
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80776	B9D2	OMIM:614175
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26005	C2CD3	OMIM:615948
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55154	MSTO1	ORPHA:502423
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	492	ATP2B3	ORPHA:314978
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4247	MGAT2	OMIM:212066
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4247	MGAT2	ORPHA:79329
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5373	PMM2	OMIM:212065
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5373	PMM2	ORPHA:79318
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26227	PHGDH	OMIM:256520
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2316	FLNA	ORPHA:90652
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2316	FLNA	OMIM:300049
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8241	RBM10	OMIM:311900
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8241	RBM10	ORPHA:2886
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23265	EXOC7	OMIM:619072
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4593	MUSK	OMIM:208150
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84879	MFSD2A	OMIM:616486
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55280	CWF19L1	OMIM:616127
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5828	PEX2	OMIM:614866
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10013	HDAC6	ORPHA:163966
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3912	LAMB1	ORPHA:352682
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6134	RPL10	ORPHA:459070
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6134	RPL10	OMIM:300998
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55165	CEP55	OMIM:236500
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	11128	POLR3A	ORPHA:447896
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	11128	POLR3A	ORPHA:3455
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4644	MYO5A	ORPHA:33445
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79813	EHMT1	ORPHA:261652
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	58508	KMT2C	ORPHA:261652
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8818	DPM2	OMIM:615042
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8818	DPM2	ORPHA:329178
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8733	GPAA1	ORPHA:529665
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8733	GPAA1	OMIM:617810
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	11041	B4GAT1	OMIM:615287
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	11041	B4GAT1	ORPHA:899
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9474	ATG5	OMIM:617584
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5340	PLG	OMIM:217090
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6605	SMARCE1	OMIM:616938
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2683	B4GALT1	ORPHA:79332
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2006	ELN	OMIM:194050
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51085	MLXIPL	OMIM:194050
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55691	FRMD4A	OMIM:616819
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51322	WAC	ORPHA:284169
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	63895	PIEZO2	OMIM:248700
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	63895	PIEZO2	ORPHA:2461
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23162	MAPK8IP3	OMIM:618443
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7355	SLC35A2	OMIM:300896
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55120	FANCL	OMIM:614083
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26047	CNTNAP2	OMIM:610042
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	125988	MICOS13	OMIM:618329
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2146	EZH2	OMIM:277590
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	29929	ALG6	ORPHA:79320
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51750	RTEL1	ORPHA:3322
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51750	RTEL1	OMIM:615190
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	65057	ACD	ORPHA:3322
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	65057	ACD	OMIM:616553
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79087	ALG12	ORPHA:79324
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3897	L1CAM	OMIM:304100
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3897	L1CAM	ORPHA:1497
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10533	ATG7	OMIM:619422
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6576	SLC25A1	OMIM:615182
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51362	CDC40	OMIM:619302
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54903	MKS1	OMIM:249000
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51117	COQ4	OMIM:616276
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55656	INTS8	OMIM:618572
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	29968	PSAT1	OMIM:616038
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55770	EXOC2	OMIM:619306
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84181	CHD6	ORPHA:2108
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2263	FGFR2	OMIM:101200
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2263	FGFR2	ORPHA:207
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9361	LONP1	OMIM:600373
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1281	COL3A1	OMIM:618343
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	30000	TNPO2	OMIM:619556
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	160418	TMTC3	OMIM:617255
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2187	FANCB	OMIM:300514
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2879	GPX4	ORPHA:93317
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2495	FTH1	OMIM:620669
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54973	INTS11	OMIM:620428
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55505	NOP10	OMIM:620425
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	253738	EBF3	ORPHA:96148
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	128869	PIGU	OMIM:618590
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1062	CENPE	OMIM:616051
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84162	BLTP1	OMIM:617822
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	998	CDC42	OMIM:616737
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8320	EOMES	ORPHA:171703
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	157922	CAMSAP1	OMIM:620316
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7012	TERC	OMIM:127550
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5048	PAFAH1B1	OMIM:607432
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1282	COL4A1	ORPHA:899
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10329	RXYLT1	ORPHA:899
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1605	DAG1	ORPHA:899
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7547	ZIC3	OMIM:306955
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8925	HERC1	ORPHA:457359
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84340	GFM2	ORPHA:565624
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23221	RHOBTB2	OMIM:618004
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	22930	RAB3GAP1	OMIM:600118
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79641	ROGDI	OMIM:226750
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	11274	USP18	OMIM:617397
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26007	TKFC	OMIM:618805
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	267010	RNU12	OMIM:620208
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80746	TSEN2	OMIM:612389
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80746	TSEN2	ORPHA:2524
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	400569	MED11	OMIM:620327
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23203	PMPCA	OMIM:213200
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6821	SUOX	OMIM:272300
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6712	SPTBN2	OMIM:600224
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5277	PIGA	OMIM:300868
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4700	NDUFA6	OMIM:618253
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3188	HNRNPH2	OMIM:300986
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	83696	TRAPPC9	ORPHA:352530
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	64374	SIL1	ORPHA:559
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57572	DOCK6	OMIM:614219
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80347	COASY	OMIM:618266
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	340075	ARSI	ORPHA:401815
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57003	CCDC47	OMIM:618268
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	112858	TP53RK	OMIM:617730
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	27107	ZBTB11	OMIM:618383
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	29957	SLC25A24	OMIM:612289
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3839	KPNA3	OMIM:620106
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5162	PDHB	ORPHA:255138
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6872	TAF1	OMIM:300966
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4841	NONO	OMIM:300967
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4841	NONO	ORPHA:466791
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51124	IER3IP1	OMIM:614231
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	22983	MAST1	OMIM:618273
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55640	FLVCR2	OMIM:225790
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79042	TSEN34	ORPHA:2524
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51091	SEPSECS	ORPHA:2524
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	202018	TAPT1	OMIM:616897
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79867	TCTN2	OMIM:616654
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57038	RARS2	OMIM:611523
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55164	SHQ1	OMIM:619922
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7291	TWIST1	OMIM:617746
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	100506658	OCLN	OMIM:251290
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	93587	TRMT10A	ORPHA:391408
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84919	PPP1R15B	ORPHA:391408
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	60386	SLC25A19	OMIM:607196
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	259266	ASPM	OMIM:608716
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	153241	CEP120	OMIM:616300
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23545	ATP6V0A2	ORPHA:357074
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	523	ATP6V1A	ORPHA:357074
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	529	ATP6V1E1	ORPHA:357074
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5879	RAC1	OMIM:617751
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5879	RAC1	ORPHA:500159
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9731	CEP104	OMIM:616781
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9939	RBM8A	OMIM:274000
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1719	DHFR	OMIM:613839
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55074	OXR1	OMIM:213000
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23299	BICD2	OMIM:618291
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57647	DHX37	OMIM:618731
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23404	EXOSC2	OMIM:617763
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	18	ABAT	OMIM:613163
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1496	CTNNA2	OMIM:618174
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	498	ATP5F1A	OMIM:615228
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6938	TCF12	OMIM:615314
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	139285	AMER1	OMIM:300373
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7143	TNR	OMIM:619653
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5274	SERPINI1	OMIM:604218
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3064	HTT	ORPHA:399
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3064	HTT	OMIM:617435
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6515	SLC2A3	ORPHA:399
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1497	CTNS	OMIM:219800
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10617	STAMBP	OMIM:614261
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2720	GLB1	OMIM:230600
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1786	DNMT1	ORPHA:314404
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1786	DNMT1	OMIM:614116
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57165	GJC2	OMIM:608804
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3074	HEXB	ORPHA:309162
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	65267	WNK3	OMIM:309610
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	101060691	NUTM2B-AS1	OMIM:618637
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	375387	NRROS	OMIM:618875
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54982	CLN6	OMIM:204300
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7345	UCHL1	OMIM:615491
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5105	PCK1	OMIM:261680
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6573	SLC19A1	OMIM:620603
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5833	PCYT2	OMIM:618770
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57178	ZMIZ1	OMIM:618659
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1201	CLN3	OMIM:204200
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26040	SETBP1	OMIM:269150
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84504	NKX6-2	ORPHA:527497
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54902	TTC19	OMIM:615157
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	92609	TIMM50	OMIM:617698
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	92609	TIMM50	ORPHA:505216
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	253959	RALGAPA1	OMIM:618797
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4076	CAPRIN1	OMIM:620636
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10531	PITRM1	OMIM:619405
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	256471	MFSD8	OMIM:610951
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23556	PIGN	OMIM:614080
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55739	NAXD	OMIM:618321
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	339855	KY	ORPHA:496689
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	29960	MRM2	OMIM:618567
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23189	KANK1	OMIM:612900
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2055	CLN8	ORPHA:1947
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2055	CLN8	OMIM:600143
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2055	CLN8	OMIM:610003
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8813	DPM1	ORPHA:79322
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26100	WIPI2	OMIM:618453
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7040	TGFB1	OMIM:618213
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51693	TRAPPC2L	OMIM:618331
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	27133	KCNH5	OMIM:620537
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	27429	HTRA2	OMIM:617248
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4137	MAPT	OMIM:601104
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1317	SLC31A1	OMIM:620306
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7084	TK2	ORPHA:254886
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7084	TK2	OMIM:609560
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57520	HECW2	OMIM:617268
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	11152	WDR45	ORPHA:329284
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	11152	WDR45	OMIM:300894
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1760	DMPK	OMIM:160900
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5934	RBL2	OMIM:619690
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79709	COLGALT1	OMIM:618360
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5071	PRKN	OMIM:600116
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4704	NDUFA9	OMIM:618247
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	56652	TWNK	OMIM:609286
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5611	DNAJC3	OMIM:616192
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5611	DNAJC3	ORPHA:445062
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	127833	SYT2	OMIM:619461
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4714	NDUFB8	OMIM:618252
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1822	ATN1	OMIM:618494
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84896	ATAD1	OMIM:618011
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	220296	HEPACAM	OMIM:613925
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3975	LHX1	ORPHA:261265
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6928	HNF1B	ORPHA:261265
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51095	TRNT1	OMIM:616084
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4567	MT-TL1	ORPHA:324525
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2571	GAD1	OMIM:619124
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2760	GM2A	ORPHA:309246
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2760	GM2A	OMIM:272750
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1200	TPP1	OMIM:204500
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57704	GBA2	ORPHA:320391
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57704	GBA2	OMIM:614409
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57704	GBA2	ORPHA:352641
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6663	SOX10	OMIM:609136
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9487	PIGL	OMIM:280000
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	727676	SNORD118	ORPHA:542310
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	199857	ALG14	OMIM:619036
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51102	MECR	ORPHA:508093
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	347734	SLC35B2	OMIM:620269
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80222	TARS2	OMIM:615918
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	162	AP1B1	OMIM:242150
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54476	RNF216	OMIM:212840
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26580	BSCL2	OMIM:615924
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26580	BSCL2	ORPHA:363400
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26153	KIF26A	OMIM:620156
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51324	SPG21	OMIM:248900
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	64207	IRF2BPL	OMIM:618088
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55037	PTCD3	OMIM:619057
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55157	DARS2	ORPHA:137898
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7841	MOGS	OMIM:606056
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8772	FADD	OMIM:613759
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8772	FADD	ORPHA:306550
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54675	CRLS1	OMIM:620167
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5095	PCCA	OMIM:606054
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5096	PCCB	OMIM:606054
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7466	WFS1	OMIM:222300
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1327	COX4I1	OMIM:619060
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5826	ABCD4	OMIM:614857
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5521	PPP2R2B	ORPHA:98762
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23065	EMC1	ORPHA:480898
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23065	EMC1	OMIM:616875
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	85021	REPS1	OMIM:617916
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6314	ATXN7	ORPHA:94147
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10159	ATP6AP2	OMIM:300423
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57017	COQ9	OMIM:614654
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	91949	COG7	OMIM:608779
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7167	TPI1	OMIM:615512
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	64116	SLC39A8	OMIM:616721
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	132	ADK	OMIM:614300
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	53616	ADAM22	OMIM:617933
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2258	FGF13	OMIM:301058
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9150	CTDP1	OMIM:604168
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9131	AIFM1	ORPHA:83629
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54822	TRPM7	OMIM:105500
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2891	GRIA2	OMIM:618917
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23732	FRRS1L	OMIM:616981
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	29940	DSE	OMIM:615539
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2313	FLI1	ORPHA:2308
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2517	FUCA1	OMIM:230000
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	203228	C9orf72	OMIM:105550
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	617	BCS1L	OMIM:124000
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4094	MAF	OMIM:601088
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26503	SLC17A5	OMIM:269920
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9197	SLC33A1	OMIM:614482
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5538	PPT1	OMIM:256730
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2806	GOT2	OMIM:618721
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2639	GCDH	OMIM:231670
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7305	TYROBP	OMIM:221770
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55331	ACER3	OMIM:617762
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	22978	NT5C2	OMIM:613162
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	22868	FASTKD2	OMIM:618855
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8036	SHOC2	OMIM:607721
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	343450	KCNT2	OMIM:617771
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	27245	AHDC1	ORPHA:412069
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	27245	AHDC1	OMIM:615829
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6844	VAMP2	OMIM:618760
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	11232	POLG2	OMIM:618528
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23327	NEDD4L	OMIM:617201
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	113612	CYP2U1	OMIM:615030
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	113612	CYP2U1	ORPHA:320411
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	91574	MTRFR	OMIM:615035
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	91574	MTRFR	ORPHA:320375
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	91574	MTRFR	ORPHA:254930
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7531	YWHAE	ORPHA:217385
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7531	YWHAE	ORPHA:531
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3098	HK1	OMIM:618547
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26137	ZBTB20	OMIM:259050
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9533	POLR1C	OMIM:616494
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1615	DARS1	OMIM:615281
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51098	IFT52	OMIM:617102
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4849	CNOT3	OMIM:618672
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51062	ATL1	OMIM:182600
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79053	ALG8	ORPHA:79325
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9488	PIGB	OMIM:618580
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10765	KDM5B	OMIM:618109
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2671	GFER	ORPHA:330054
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	11160	ERLIN2	ORPHA:209951
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	11160	ERLIN2	OMIM:611225
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5631	PRPS1	ORPHA:423479
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8312	AXIN1	OMIM:620558
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2560	GABRB1	OMIM:617153
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9758	FRMPD4	OMIM:300983
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5332	PLCB4	OMIM:620458
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8883	NAE1	OMIM:620210
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	285590	SH3PXD2B	OMIM:249420
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	374354	NHLRC2	OMIM:618278
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8911	CACNA1I	OMIM:620114
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3090	HIC1	ORPHA:531
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55005	RMND1	OMIM:614922
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10682	EBP	ORPHA:401973
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54209	TREM2	OMIM:618193
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10000	AKT3	OMIM:615937
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	501	ALDH7A1	ORPHA:3006
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23400	ATP13A2	ORPHA:513436
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2752	GLUL	OMIM:610015
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9907	AP5Z1	OMIM:613647
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9907	AP5Z1	ORPHA:306511
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1267	CNP	OMIM:619071
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79753	SNIP1	OMIM:614501
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23503	ZFYVE26	OMIM:270700
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23503	ZFYVE26	ORPHA:100996
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51244	CCDC174	OMIM:616816
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	200403	VWA3B	OMIM:616948
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	11020	IFT27	OMIM:615996
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23028	KDM1A	OMIM:616728
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23028	KDM1A	ORPHA:477993
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23291	FBXW11	OMIM:618914
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51218	GLRX5	OMIM:616859
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54664	TMEM106B	OMIM:617964
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2475	MTOR	OMIM:616638
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	122553	TRAPPC6B	OMIM:617862
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55704	CCDC88A	OMIM:617507
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5296	PIK3R2	OMIM:603387
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51663	ZFR	ORPHA:401840
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1468	SLC25A10	OMIM:618972
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5307	PITX1	OMIM:119800
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10844	TUBGCP2	OMIM:618737
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4858	NOVA2	OMIM:618859
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84148	KAT8	OMIM:618974
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	25792	CIZ1	ORPHA:420492
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6687	SPG7	ORPHA:99013
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6687	SPG7	OMIM:607259
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8722	CTSF	OMIM:615362
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55650	PIGV	OMIM:239300
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2192	FBLN1	ORPHA:404451
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	348	APOE	OMIM:607822
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5663	PSEN1	OMIM:607822
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5663	PSEN1	ORPHA:1020
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2332	FMR1	ORPHA:93256
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2332	FMR1	ORPHA:908
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10347	ABCA7	OMIM:608907
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10347	ABCA7	ORPHA:1020
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	246243	RNASEH1	OMIM:616479
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23230	VPS13A	ORPHA:2388
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4582	MUC1	OMIM:174000
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57338	JPH3	ORPHA:98934
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57338	JPH3	OMIM:606438
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55699	IARS2	OMIM:616007
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	493856	CISD2	ORPHA:3463
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2896	GRN	OMIM:607485
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54941	RNF125	OMIM:616260
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5664	PSEN2	ORPHA:1020
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10452	TOMM40	ORPHA:1020
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	351	APP	ORPHA:1020
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6653	SORL1	ORPHA:1020
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2776	GNAQ	ORPHA:3205
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2776	GNAQ	OMIM:185300
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2583	B4GALNT1	OMIM:609195
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2583	B4GALNT1	ORPHA:101006
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54832	VPS13C	OMIM:616840
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	27249	MMADHC	OMIM:277410
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55630	SLC39A4	ORPHA:37
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10166	SLC25A15	ORPHA:415
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10166	SLC25A15	OMIM:238970
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54834	GDAP2	OMIM:618369
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23317	DNAJC13	ORPHA:411602
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1981	EIF4G1	ORPHA:411602
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55737	VPS35	ORPHA:411602
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	120892	LRRK2	ORPHA:411602
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26058	GIGYF2	ORPHA:411602
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5604	MAP2K1	ORPHA:1340
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10283	CWC27	OMIM:250410
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10283	CWC27	ORPHA:166035
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	60558	GUF1	OMIM:617065
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	25978	CHMP2B	OMIM:600795
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1203	CLN5	OMIM:256731
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	435	ASL	ORPHA:23
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5621	PRNP	ORPHA:282166
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5621	PRNP	OMIM:603218
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1798	DPAGT1	ORPHA:86309
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26235	FBXL4	OMIM:615471
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51604	PIGT	ORPHA:369837
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	56006	SMG9	OMIM:616920
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	124997	WDR81	OMIM:610185
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1593	CYP27A1	ORPHA:909
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	25782	RAB3GAP2	OMIM:614225
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9255	AIMP1	OMIM:260600
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	85476	GFM1	OMIM:609060
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	285175	UNC80	OMIM:616801
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8021	NUP214	OMIM:618426
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	90624	LYRM7	OMIM:615838
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55775	TDP1	ORPHA:94124
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79796	ALG9	OMIM:608776
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2521	FUS	ORPHA:275872
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8878	SQSTM1	ORPHA:275872
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7415	VCP	ORPHA:275872
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23435	TARDBP	ORPHA:275872
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	29110	TBK1	ORPHA:275872
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	400916	CHCHD10	ORPHA:275872
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6335	SCN9A	ORPHA:33069
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6326	SCN2A	ORPHA:33069
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6326	SCN2A	OMIM:613721
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2554	GABRA1	ORPHA:33069
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6323	SCN1A	ORPHA:33069
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6324	SCN1B	ORPHA:33069
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57526	PCDH19	ORPHA:33069
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2566	GABRG2	ORPHA:33069
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1528	CYB5A	ORPHA:621
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1727	CYB5R3	ORPHA:621
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	170302	ARX	OMIM:308350
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	83475	DOHH	OMIM:620066
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80025	PANK2	OMIM:234200
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51412	ACTL6B	OMIM:618470
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	128240	NAXE	OMIM:617186
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	25828	TXN2	ORPHA:478029
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	25828	TXN2	OMIM:616811
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23287	AGTPBP1	OMIM:618276
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	790	CAD	OMIM:616457
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2782	GNB1	OMIM:616973
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55163	PNPO	ORPHA:79096
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5660	PSAP	OMIM:611722
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79944	L2HGDH	OMIM:236792
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8869	ST3GAL5	OMIM:609056
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1436	CSF1R	OMIM:221820
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79868	ALG13	ORPHA:324422
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5354	PLP1	OMIM:312080
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1540	CYLD	OMIM:619132
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	215	ABCD1	ORPHA:139396
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1315	COPB1	OMIM:619255
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	166378	AFG2A	ORPHA:457351
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10352	WARS2	OMIM:619738
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	93627	TBCK	OMIM:616900
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	93627	TBCK	ORPHA:488632
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	29920	PYCR2	ORPHA:481152
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2074	ERCC6	OMIM:278800
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	128989	TANGO2	ORPHA:480864
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1717	DHCR7	OMIM:270400
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1678	TIMM8A	ORPHA:52368
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8803	SUCLA2	OMIM:612073
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79587	CARS2	OMIM:616672
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7407	VARS1	OMIM:617802
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8398	PLA2G6	OMIM:612953
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6304	SATB1	OMIM:619229
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	27010	TPK1	OMIM:614458
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10695	CNPY3	OMIM:617929
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6622	SNCA	OMIM:168601
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	81788	NUAK2	OMIM:619452
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6347	CCL2	OMIM:182940
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	81839	VANGL1	OMIM:182940
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80199	FUZ	OMIM:182940
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6862	TBXT	OMIM:182940
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	219844	HYLS1	OMIM:236680
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	219844	HYLS1	ORPHA:2189
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3239	HOXD13	ORPHA:887
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55521	TRIM36	OMIM:206500
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51339	DACT1	ORPHA:63260
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6913	TBX15	OMIM:260660
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2512	FTL	ORPHA:157846
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1859	DYRK1A	ORPHA:268261
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26128	KIFBP	OMIM:609460
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	65062	TMEM237	OMIM:614424
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5515	PPP2CA	OMIM:618354
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4552	MTRR	ORPHA:2169
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7280	TUBB2A	OMIM:615763
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4621	MYH3	OMIM:193700
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	203068	TUBB	OMIM:615771
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1778	DYNC1H1	OMIM:614563
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1781	DYNC1I2	OMIM:618492
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9440	MED17	OMIM:613668
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2271	FH	OMIM:606812
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	111	ADCY5	OMIM:619651
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84081	NSRP1	OMIM:620001
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	171023	ASXL1	OMIM:605039
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51075	TMX2	OMIM:618730
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9230	RAB11B	OMIM:617807
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5654	HTRA1	ORPHA:199354
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	27235	COQ2	OMIM:607426
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	64601	VPS16	OMIM:619291
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7384	UQCRC1	OMIM:619279
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	686	BTD	OMIM:253260
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2581	GALC	ORPHA:206436
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2581	GALC	OMIM:245200
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51473	DCDC2	ORPHA:84081
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6908	TBP	OMIM:607136
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7074	TIAM1	OMIM:619908
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2072	ERCC4	OMIM:278760
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	50814	NSDHL	OMIM:308050
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6785	ELOVL4	OMIM:614457
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84947	SERAC1	OMIM:614739
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1967	EIF2B1	OMIM:603896
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57194	ATP10A	ORPHA:411515
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9853	RUSC2	OMIM:617773
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2653	GCSH	OMIM:620423
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6571	SLC18A2	ORPHA:352649
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	22854	NTNG1	ORPHA:3095
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55610	VPS50	OMIM:619685
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6392	SDHD	OMIM:619167
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79068	FTO	OMIM:612938
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7337	UBE3A	ORPHA:98794
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7337	UBE3A	ORPHA:98795
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7337	UBE3A	OMIM:105830
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7337	UBE3A	ORPHA:411511
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4948	OCA2	ORPHA:98794
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	22796	COG2	OMIM:617395
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	22796	COG2	ORPHA:435934
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9512	PMPCB	OMIM:617954
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9692	PRORP	OMIM:619737
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54543	TOMM7	OMIM:620601
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8560	DEGS1	OMIM:618404
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55858	TMEM165	OMIM:614727
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	22845	DOLK	OMIM:610768
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8604	SLC25A12	OMIM:612949
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10087	CERT1	OMIM:616351
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	22884	WDR37	OMIM:618652
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2903	GRIN2A	ORPHA:289266
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1641	DCX	ORPHA:2148
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	11212	PLPBP	OMIM:617290
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51501	HIKESHI	OMIM:616881
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4659	PPP1R12A	OMIM:618820
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	56947	MFF	ORPHA:485421
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	56947	MFF	OMIM:617086
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	539	ATP5PO	OMIM:620359
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	118924	FRA10AC1	OMIM:620113
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	205327	C2orf69	OMIM:619423
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3329	HSPD1	OMIM:612233
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2744	GLS	OMIM:618339
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3769	KCNJ13	ORPHA:65
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	343035	RD3	ORPHA:65
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	145226	RDH12	ORPHA:65
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1406	CRX	ORPHA:65
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	64802	NMNAT1	ORPHA:65
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57096	RPGRIP1	ORPHA:65
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80184	CEP290	ORPHA:65
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80184	CEP290	OMIM:610188
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80184	CEP290	OMIM:610189
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10383	TUBB4B	ORPHA:65
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9742	IFT140	ORPHA:65
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	85015	USP45	ORPHA:65
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6121	RPE65	ORPHA:65
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23418	CRB1	ORPHA:65
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5130	PCYT1A	ORPHA:65
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9657	IQCB1	ORPHA:65
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	392255	GDF6	ORPHA:65
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23746	AIPL1	ORPHA:65
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3000	GUCY2D	ORPHA:65
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9227	LRAT	ORPHA:65
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55812	SPATA7	ORPHA:65
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7287	TULP1	ORPHA:65
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	167691	LCA5	ORPHA:65
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3614	IMPDH1	ORPHA:65
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	80055	PGAP1	ORPHA:401820
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4281	MID1	ORPHA:2745
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	95	ACY1	ORPHA:137754
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	476	ATP1A1	ORPHA:564178
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3295	HSD17B4	OMIM:261515
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79989	IFT56	OMIM:619534
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5189	PEX1	OMIM:214100
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6311	ATXN2	ORPHA:98756
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6662	SOX9	ORPHA:140
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79583	TMEM231	ORPHA:2754
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10210	TOPORS	ORPHA:2754
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9851	KIAA0753	ORPHA:2754
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26123	TCTN3	ORPHA:2754
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5147	PDE6D	ORPHA:2754
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	65250	CPLANE1	ORPHA:2754
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51259	TMEM216	ORPHA:2754
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8481	OFD1	ORPHA:2754
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	317662	FAM149B1	ORPHA:2754
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	374654	KIF7	ORPHA:2754
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	112755	STX1B	ORPHA:36387
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	112476	PRRT2	ORPHA:36387
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26173	INTS1	OMIM:618571
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2911	GRM1	OMIM:614831
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23229	ARHGEF9	ORPHA:163985
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23229	ARHGEF9	OMIM:300607
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23476	BRD4	ORPHA:199
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9126	SMC3	ORPHA:199
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8243	SMC1A	ORPHA:199
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6878	TAF6	ORPHA:199
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	25836	NIPBL	ORPHA:199
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55869	HDAC8	ORPHA:199
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5885	RAD21	ORPHA:199
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5396	PRRX1	ORPHA:990
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7399	USH2A	ORPHA:231178
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79955	PDZD7	ORPHA:231178
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4647	MYO7A	ORPHA:231178
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4647	MYO7A	ORPHA:231169
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	25861	WHRN	ORPHA:231178
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84059	ADGRV1	ORPHA:231178
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	27238	GPKOW	ORPHA:2570
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6197	RPS6KA3	ORPHA:192
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3265	HRAS	ORPHA:2612
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3845	KRAS	ORPHA:2612
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4893	NRAS	ORPHA:2612
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5290	PIK3CA	ORPHA:60040
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8239	USP9X	ORPHA:480880
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	11340	EXOSC8	ORPHA:2254
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5393	EXOSC9	ORPHA:2254
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51010	EXOSC3	ORPHA:2254
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7443	VRK1	ORPHA:2254
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	91137	SLC25A46	ORPHA:2254
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8905	AP1S2	ORPHA:1568
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2737	GLI3	ORPHA:36
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1654	DDX3X	ORPHA:3338
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	22858	CILK1	OMIM:612651
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9640	ZNF592	ORPHA:83472
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84942	WDR73	ORPHA:83472
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55636	CHD7	ORPHA:138
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9723	SEMA3E	ORPHA:138
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57231	SNX14	ORPHA:397709
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	389827	MYMK	ORPHA:1358
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	101929726	MYMX	ORPHA:1358
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2261	FGFR3	ORPHA:93262
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2068	ERCC2	ORPHA:1466
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2067	ERCC1	ORPHA:1466
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2073	ERCC5	ORPHA:1466
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	85378	TUBGCP6	ORPHA:2518
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	27229	TUBGCP4	ORPHA:2518
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10733	PLK4	ORPHA:2518
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4693	NDP	ORPHA:649
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2697	GJA1	ORPHA:2710
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9897	WASHC5	ORPHA:7
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	28952	CCDC22	ORPHA:7
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57020	VPS35L	ORPHA:7
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	56896	DPYSL5	ORPHA:7
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	64072	CDH23	ORPHA:231169
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10083	USH1C	ORPHA:231169
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	124590	USH1G	ORPHA:231169
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	83715	ESPN	ORPHA:231169
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10518	CIB2	ORPHA:231169
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	65217	PCDH15	ORPHA:231169
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4524	MTHFR	ORPHA:563612
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57216	VANGL2	ORPHA:563612
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10815	CPLX1	ORPHA:280
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54872	PIGG	ORPHA:280
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7469	NELFA	ORPHA:280
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1487	CTBP1	ORPHA:280
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3954	LETM1	ORPHA:280
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7468	NSD2	ORPHA:280
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9184	BUB3	ORPHA:1052
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	699	BUB1	ORPHA:1052
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9702	CEP57	ORPHA:1052
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9319	TRIP13	ORPHA:1052
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	701	BUB1B	ORPHA:1052
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	56623	INPP5E	ORPHA:1454
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	91147	TMEM67	ORPHA:1454
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23322	RPGRIP1L	ORPHA:1454
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57545	CC2D2A	ORPHA:1454
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	219285	SAMD9L	ORPHA:2585
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4001	LMNB1	ORPHA:99027
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4668	NAGA	ORPHA:79279
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	477	ATP1A2	OMIM:619602
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	3708	ITPR1	OMIM:117360
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	54806	AHI1	ORPHA:475
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	200894	ARL13B	ORPHA:475
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23247	KATNIP	ORPHA:475
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	219854	TMEM218	ORPHA:475
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	95681	CEP41	ORPHA:475
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10464	PIBF1	ORPHA:475
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23116	TOGARAM1	ORPHA:475
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	25776	CBY1	ORPHA:475
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	403	ARL3	ORPHA:475
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	64327	LMBR1	ORPHA:2378
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	673	BRAF	OMIM:115150
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4036	LRP2	OMIM:222448
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4036	LRP2	ORPHA:2143
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4774	NFIA	ORPHA:401986
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	26275	HIBCH	ORPHA:88639
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51715	RAB23	OMIM:201000
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51114	ZDHHC9	ORPHA:776
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	65109	UPF3B	ORPHA:776
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51524	TMEM138	ORPHA:2318
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23090	ZNF423	ORPHA:2318
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	257	ALX3	ORPHA:391474
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4976	OPA1	ORPHA:98673
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4099	MAG	OMIM:616680
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4125	MAN2B1	OMIM:248500
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	777	CACNA1E	OMIM:618285
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84631	SLITRK2	OMIM:301107
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	27247	NFU1	OMIM:620938
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4191	MDH2	OMIM:617339
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	27072	VPS41	OMIM:619389
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	79152	FA2H	ORPHA:171629
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51761	ATP8A2	OMIM:615268
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8890	EIF2B4	OMIM:620314
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23636	NUP62	ORPHA:225154
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9918	NCAPD2	OMIM:617983
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1984	EIF5A	OMIM:619376
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23511	NUP188	OMIM:618804
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	85459	CEP295	OMIM:620767
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51294	PCDH12	OMIM:251280
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10015	PDCD6IP	OMIM:620047
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6045	RNF2	OMIM:619460
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84823	LMNB2	OMIM:619180
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4905	NSF	OMIM:619340
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4692	NDN	ORPHA:177904
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4692	NDN	ORPHA:177901
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4692	NDN	ORPHA:98754
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10430	TMEM147	OMIM:620075
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1182	CLCN3	OMIM:619512
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55773	TBC1D23	OMIM:617695
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	94005	PIGS	OMIM:618143
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9681	DEPDC5	OMIM:620504
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2972	BRF1	OMIM:616202
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2972	BRF1	ORPHA:444072
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6091	ROBO1	OMIM:620305
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	85440	DOCK7	ORPHA:411986
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	85440	DOCK7	OMIM:615859
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5649	RELN	OMIM:257320
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9289	ADGRG1	ORPHA:101070
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9289	ADGRG1	OMIM:606854
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5728	PTEN	ORPHA:101070
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	724066	ATXN8	ORPHA:98760
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6315	ATXN8OS	ORPHA:98760
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51112	TRAPPC12	ORPHA:500144
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51112	TRAPPC12	OMIM:617669
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	283989	TSEN54	OMIM:225753
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	283989	TSEN54	OMIM:277470
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	116461	TSEN15	OMIM:617026
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	1630	DCC	OMIM:617542
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	28514	DLL1	ORPHA:280195
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2253	FGF8	ORPHA:280195
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6496	SIX3	ORPHA:280195
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7050	TGIF1	ORPHA:280195
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4838	NODAL	ORPHA:280195
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6469	SHH	ORPHA:280195
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7546	ZIC2	ORPHA:280195
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6491	STIL	ORPHA:280195
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2619	GAS1	ORPHA:280195
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	84976	DISP1	ORPHA:280195
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8928	FOXH1	ORPHA:280195
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6997	CRIPTO	ORPHA:280195
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5727	PTCH1	ORPHA:280195
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	50937	CDON	ORPHA:280195
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	4190	MDH1	OMIM:618959
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10297	APC2	OMIM:618677
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9562	MINPP1	OMIM:619527
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	64221	ROBO3	OMIM:607313
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	271	AMPD2	OMIM:615809
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	6595	SMARCA2	OMIM:619293
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10273	STUB1	ORPHA:412057
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	738	VPS51	OMIM:618606
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9439	MED23	OMIM:614249
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	114034	TOE1	OMIM:614969
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10195	ALG3	ORPHA:79321
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	191	AHCY	ORPHA:88618
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51645	PPIL1	OMIM:619301
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	8884	SLC5A6	OMIM:618973
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	92935	MARS2	OMIM:616430
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7471	WNT1	OMIM:615220
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10243	GPHN	OMIM:615501
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9181	ARHGEF2	OMIM:617523
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51013	EXOSC1	OMIM:619304
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7319	UBE2A	ORPHA:163956
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57724	EPG5	ORPHA:1493
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55361	PI4K2A	OMIM:620732
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	27445	PCLO	OMIM:608027
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5297	PI4KA	OMIM:619708
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	59336	PRDM13	OMIM:619909
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23729	SHPK	ORPHA:440713
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	2019	EN1	OMIM:619218
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	11023	VAX1	OMIM:614402
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	5455	POU3F3	OMIM:618604
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	10371	SEMA3A	OMIM:614897
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	170825	GSX2	OMIM:618646
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23347	SMCHD1	ORPHA:2250
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	93986	FOXP2	ORPHA:251061
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	51651	PTRH2	ORPHA:456312
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	55717	WDR11	ORPHA:95496
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	23432	GPR161	ORPHA:95496
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9578	CDC42BPB	OMIM:619841
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	7473	WNT3	ORPHA:3301
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	340419	RSPO2	ORPHA:3301
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	9496	TBX4	ORPHA:3301
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	57094	CPA6	OMIM:614418
HP:0006380	Knee flexion contracture	11160	ERLIN2	ORPHA:280384
HP:0006380	Knee flexion contracture	11160	ERLIN2	ORPHA:209951
HP:0006380	Knee flexion contracture	4921	DDR2	OMIM:271665
HP:0006380	Knee flexion contracture	23141	ANKLE2	OMIM:616681
HP:0006380	Knee flexion contracture	8506	CNTNAP1	OMIM:616286
HP:0006380	Knee flexion contracture	100151683	RNU4ATAC	OMIM:210710
HP:0006380	Knee flexion contracture	4010	LMX1B	ORPHA:2614
HP:0006380	Knee flexion contracture	1756	DMD	OMIM:310200
HP:0006380	Knee flexion contracture	170689	ADAMTS15	OMIM:620545
HP:0006380	Knee flexion contracture	5352	PLOD2	OMIM:609220
HP:0006380	Knee flexion contracture	1303	COL12A1	ORPHA:75840
HP:0006380	Knee flexion contracture	1303	COL12A1	ORPHA:536516
HP:0006380	Knee flexion contracture	1291	COL6A1	ORPHA:75840
HP:0006380	Knee flexion contracture	1292	COL6A2	ORPHA:75840
HP:0006380	Knee flexion contracture	1293	COL6A3	ORPHA:75840
HP:0006380	Knee flexion contracture	6840	SVIL	OMIM:619040
HP:0006380	Knee flexion contracture	91179	SCARF2	OMIM:600920
HP:0006380	Knee flexion contracture	3714	JAG2	OMIM:619566
HP:0006380	Knee flexion contracture	51506	UFC1	OMIM:618076
HP:0006380	Knee flexion contracture	4649	MYO9A	OMIM:618198
HP:0006380	Knee flexion contracture	6616	SNAP25	OMIM:616330
HP:0006380	Knee flexion contracture	2201	FBN2	OMIM:121050
HP:0006380	Knee flexion contracture	2067	ERCC1	OMIM:610758
HP:0006380	Knee flexion contracture	29925	GMPPB	ORPHA:353327
HP:0006380	Knee flexion contracture	2673	GFPT1	ORPHA:353327
HP:0006380	Knee flexion contracture	1798	DPAGT1	ORPHA:353327
HP:0006380	Knee flexion contracture	85365	ALG2	ORPHA:353327
HP:0006380	Knee flexion contracture	85365	ALG2	OMIM:616228
HP:0006380	Knee flexion contracture	199857	ALG14	ORPHA:353327
HP:0006380	Knee flexion contracture	79158	GNPTAB	ORPHA:576
HP:0006380	Knee flexion contracture	79158	GNPTAB	OMIM:252600
HP:0006380	Knee flexion contracture	1146	CHRNG	OMIM:265000
HP:0006380	Knee flexion contracture	2273	FHL1	OMIM:300695
HP:0006380	Knee flexion contracture	2316	FLNA	OMIM:305620
HP:0006380	Knee flexion contracture	4621	MYH3	OMIM:193700
HP:0006380	Knee flexion contracture	4621	MYH3	OMIM:178110
HP:0006380	Knee flexion contracture	23321	TRIM2	OMIM:615490
HP:0006380	Knee flexion contracture	92255	LMBRD2	OMIM:619694
HP:0006380	Knee flexion contracture	23522	KAT6B	OMIM:606170
HP:0006380	Knee flexion contracture	23522	KAT6B	ORPHA:85201
HP:0006380	Knee flexion contracture	2010	EMD	OMIM:310300
HP:0006380	Knee flexion contracture	29968	PSAT1	ORPHA:284417
HP:0006380	Knee flexion contracture	57190	SELENON	ORPHA:2020
HP:0006380	Knee flexion contracture	58	ACTA1	ORPHA:2020
HP:0006380	Knee flexion contracture	4633	MYL2	ORPHA:2020
HP:0006380	Knee flexion contracture	3679	ITGA7	ORPHA:2020
HP:0006380	Knee flexion contracture	7169	TPM2	ORPHA:2020
HP:0006380	Knee flexion contracture	7169	TPM2	OMIM:108120
HP:0006380	Knee flexion contracture	9200	HACD1	ORPHA:2020
HP:0006380	Knee flexion contracture	7170	TPM3	ORPHA:2020
HP:0006380	Knee flexion contracture	51776	MAP3K20	ORPHA:2020
HP:0006380	Knee flexion contracture	5297	PI4KA	OMIM:619621
HP:0006380	Knee flexion contracture	5297	PI4KA	OMIM:616531
HP:0006380	Knee flexion contracture	5297	PI4KA	OMIM:619708
HP:0006380	Knee flexion contracture	3977	LIFR	OMIM:601559
HP:0006380	Knee flexion contracture	3977	LIFR	ORPHA:3206
HP:0006380	Knee flexion contracture	84342	COG8	OMIM:611182
HP:0006380	Knee flexion contracture	127833	SYT2	OMIM:619461
HP:0006380	Knee flexion contracture	5277	PIGA	OMIM:300868
HP:0006380	Knee flexion contracture	23327	NEDD4L	OMIM:617201
HP:0006380	Knee flexion contracture	1954	MEGF8	OMIM:614976
HP:0006380	Knee flexion contracture	2783	GNB2	OMIM:619503
HP:0006380	Knee flexion contracture	4632	MYL1	OMIM:618414
HP:0006380	Knee flexion contracture	3930	LBR	OMIM:618019
HP:0006380	Knee flexion contracture	79644	SRD5A3	OMIM:612713
HP:0006380	Knee flexion contracture	6811	STX5	OMIM:620454
HP:0006380	Knee flexion contracture	9531	BAG3	OMIM:612954
HP:0006380	Knee flexion contracture	6874	TAF4	OMIM:620450
HP:0006380	Knee flexion contracture	2074	ERCC6	OMIM:214150
HP:0006380	Knee flexion contracture	9653	HS2ST1	OMIM:619194
HP:0006380	Knee flexion contracture	9051	PSTPIP1	OMIM:604416
HP:0006380	Knee flexion contracture	59341	TRPV4	OMIM:600175
HP:0006380	Knee flexion contracture	10804	GJB6	ORPHA:477
HP:0006380	Knee flexion contracture	2706	GJB2	ORPHA:477
HP:0006380	Knee flexion contracture	2706	GJB2	OMIM:148210
HP:0006380	Knee flexion contracture	9791	PTDSS1	OMIM:151050
HP:0006380	Knee flexion contracture	63895	PIEZO2	OMIM:114300
HP:0006380	Knee flexion contracture	29895	MYL11	OMIM:619110
HP:0006380	Knee flexion contracture	9894	TELO2	ORPHA:488642
HP:0006380	Knee flexion contracture	259232	NALCN	ORPHA:371364
HP:0006380	Knee flexion contracture	259232	NALCN	OMIM:616266
HP:0006380	Knee flexion contracture	285175	UNC80	ORPHA:371364
HP:0006380	Knee flexion contracture	25914	RTTN	ORPHA:468631
HP:0006380	Knee flexion contracture	157570	ESCO2	ORPHA:3103
HP:0006380	Knee flexion contracture	157570	ESCO2	OMIM:268300
HP:0006380	Knee flexion contracture	84992	PIGY	OMIM:616809
HP:0006380	Knee flexion contracture	10613	ERLIN1	ORPHA:401785
HP:0006380	Knee flexion contracture	6134	RPL10	ORPHA:435938
HP:0006380	Knee flexion contracture	26137	ZBTB20	OMIM:259050
HP:0006380	Knee flexion contracture	22978	NT5C2	ORPHA:320396
HP:0006380	Knee flexion contracture	2222	FDFT1	OMIM:618156
HP:0006380	Knee flexion contracture	83636	C19orf12	OMIM:615043
HP:0006380	Knee flexion contracture	163175	LGI4	OMIM:617468
HP:0006380	Knee flexion contracture	60681	FKBP10	OMIM:259450
HP:0006380	Knee flexion contracture	4773	NFATC2	OMIM:620232
HP:0006380	Knee flexion contracture	1376	CPT2	OMIM:608836
HP:0006380	Knee flexion contracture	5296	PIK3R2	OMIM:603387
HP:0006380	Knee flexion contracture	23387	SIK3	OMIM:618162
HP:0006380	Knee flexion contracture	23299	BICD2	OMIM:615290
HP:0006380	Knee flexion contracture	8813	DPM1	OMIM:608799
HP:0006380	Knee flexion contracture	8813	DPM1	ORPHA:79322
HP:0006380	Knee flexion contracture	5745	PTH1R	OMIM:156400
HP:0006380	Knee flexion contracture	339855	KY	ORPHA:496689
HP:0006380	Knee flexion contracture	6572	SLC18A3	OMIM:617239
HP:0006380	Knee flexion contracture	6389	SDHA	ORPHA:3208
HP:0006380	Knee flexion contracture	6390	SDHB	ORPHA:3208
HP:0006380	Knee flexion contracture	6392	SDHD	ORPHA:3208
HP:0006380	Knee flexion contracture	644096	SDHAF1	ORPHA:3208
HP:0006380	Knee flexion contracture	7317	UBA1	ORPHA:1145
HP:0006380	Knee flexion contracture	55681	SCYL2	ORPHA:1143
HP:0006380	Knee flexion contracture	84570	COL25A1	ORPHA:1143
HP:0006380	Knee flexion contracture	57222	ERGIC1	ORPHA:1143
HP:0006380	Knee flexion contracture	64116	SLC39A8	ORPHA:468699
HP:0006380	Knee flexion contracture	2200	FBN1	OMIM:184900
HP:0006380	Knee flexion contracture	91137	SLC25A46	OMIM:619303
HP:0006380	Knee flexion contracture	1140	CHRNB1	OMIM:616313
HP:0006380	Knee flexion contracture	529	ATP6V1E1	OMIM:617402
HP:0006380	Knee flexion contracture	8449	DHX16	OMIM:618733
HP:0006380	Knee flexion contracture	2737	GLI3	ORPHA:93322
HP:0002979	Bowing of the legs	1497	CTNS	OMIM:219800
HP:0002979	Bowing of the legs	875	CBS	ORPHA:394
HP:0002979	Bowing of the legs	2131	EXT1	OMIM:133700
HP:0002979	Bowing of the legs	2131	EXT1	ORPHA:321
HP:0002979	Bowing of the legs	2131	EXT1	ORPHA:502
HP:0002979	Bowing of the legs	51256	TBC1D7	OMIM:248000
HP:0002979	Bowing of the legs	2132	EXT2	OMIM:133701
HP:0002979	Bowing of the legs	2132	EXT2	ORPHA:321
HP:0002979	Bowing of the legs	2972	BRF1	OMIM:616202
HP:0002979	Bowing of the legs	652	BMP4	ORPHA:828
HP:0002979	Bowing of the legs	7360	UGP2	OMIM:618744
HP:0002979	Bowing of the legs	10992	SF3B2	OMIM:164210
HP:0002979	Bowing of the legs	538	ATP7A	OMIM:304150
HP:0002979	Bowing of the legs	538	ATP7A	ORPHA:198
HP:0002979	Bowing of the legs	1836	SLC26A2	ORPHA:56304
HP:0002979	Bowing of the legs	1836	SLC26A2	ORPHA:93307
HP:0002979	Bowing of the legs	1836	SLC26A2	ORPHA:628
HP:0002979	Bowing of the legs	1836	SLC26A2	OMIM:222600
HP:0002979	Bowing of the legs	4125	MAN2B1	ORPHA:309282
HP:0002979	Bowing of the legs	58	ACTA1	ORPHA:171436
HP:0002979	Bowing of the legs	7169	TPM2	ORPHA:171436
HP:0002979	Bowing of the legs	4703	NEB	ORPHA:171436
HP:0002979	Bowing of the legs	10324	KLHL41	ORPHA:171436
HP:0002979	Bowing of the legs	56203	LMOD3	ORPHA:171436
HP:0002979	Bowing of the legs	1073	CFL2	ORPHA:171436
HP:0002979	Bowing of the legs	1278	COL1A2	ORPHA:230851
HP:0002979	Bowing of the legs	3021	H3-3B	OMIM:619721
HP:0002979	Bowing of the legs	55790	CSGALNACT1	OMIM:618870
HP:0002979	Bowing of the legs	23322	RPGRIP1L	OMIM:611560
HP:0002979	Bowing of the legs	176	ACAN	OMIM:608361
HP:0002979	Bowing of the legs	54681	P4HTM	ORPHA:436141
HP:0002979	Bowing of the legs	54681	P4HTM	OMIM:618493
HP:0002979	Bowing of the legs	84572	GNPTG	OMIM:252605
HP:0002979	Bowing of the legs	5745	PTH1R	ORPHA:296
HP:0002979	Bowing of the legs	3418	IDH2	ORPHA:296
HP:0002979	Bowing of the legs	3417	IDH1	ORPHA:296
HP:0002979	Bowing of the legs	64324	NSD1	OMIM:117550
HP:0002979	Bowing of the legs	7040	TGFB1	OMIM:131300
HP:0002979	Bowing of the legs	7040	TGFB1	ORPHA:1328
HP:0002979	Bowing of the legs	9469	CHST3	OMIM:143095
HP:0002979	Bowing of the legs	9469	CHST3	ORPHA:263463
HP:0002979	Bowing of the legs	9469	CHST3	OMIM:245600
HP:0002979	Bowing of the legs	54880	BCOR	ORPHA:2712
HP:0002979	Bowing of the legs	815	CAMK2A	OMIM:617798
HP:0002979	Bowing of the legs	4853	NOTCH2	OMIM:102500
HP:0002979	Bowing of the legs	10381	TUBB3	ORPHA:300570
HP:0002979	Bowing of the legs	55699	IARS2	ORPHA:436174
HP:0002979	Bowing of the legs	55699	IARS2	OMIM:616007
HP:0002979	Bowing of the legs	83480	PUS3	ORPHA:488627
HP:0002979	Bowing of the legs	157680	VPS13B	OMIM:216550
HP:0002979	Bowing of the legs	157680	VPS13B	ORPHA:193
HP:0002979	Bowing of the legs	5566	PRKACA	ORPHA:289
HP:0002979	Bowing of the legs	5566	PRKACA	OMIM:619142
HP:0002979	Bowing of the legs	5567	PRKACB	ORPHA:289
HP:0002979	Bowing of the legs	5567	PRKACB	OMIM:619143
HP:0002979	Bowing of the legs	2735	GLI1	ORPHA:289
HP:0002979	Bowing of the legs	2735	GLI1	OMIM:618123
HP:0002979	Bowing of the legs	2121	EVC	ORPHA:289
HP:0002979	Bowing of the legs	2121	EVC	OMIM:225500
HP:0002979	Bowing of the legs	51626	DYNC2LI1	ORPHA:289
HP:0002979	Bowing of the legs	132884	EVC2	ORPHA:289
HP:0002979	Bowing of the legs	132884	EVC2	OMIM:225500
HP:0002979	Bowing of the legs	9839	ZEB2	ORPHA:261552
HP:0002979	Bowing of the legs	9839	ZEB2	ORPHA:261537
HP:0002979	Bowing of the legs	1311	COMP	OMIM:132400
HP:0002979	Bowing of the legs	1311	COMP	OMIM:177170
HP:0002979	Bowing of the legs	1311	COMP	ORPHA:93308
HP:0002979	Bowing of the legs	1311	COMP	ORPHA:750
HP:0002979	Bowing of the legs	2720	GLB1	OMIM:253010
HP:0002979	Bowing of the legs	1280	COL2A1	ORPHA:85198
HP:0002979	Bowing of the legs	1280	COL2A1	OMIM:184250
HP:0002979	Bowing of the legs	1280	COL2A1	OMIM:132450
HP:0002979	Bowing of the legs	1280	COL2A1	ORPHA:93315
HP:0002979	Bowing of the legs	1280	COL2A1	ORPHA:93316
HP:0002979	Bowing of the legs	1280	COL2A1	ORPHA:94068
HP:0002979	Bowing of the legs	3425	IDUA	OMIM:607016
HP:0002979	Bowing of the legs	374654	KIF7	OMIM:607131
HP:0002979	Bowing of the legs	374654	KIF7	ORPHA:166024
HP:0002979	Bowing of the legs	5376	PMP22	ORPHA:3115
HP:0002979	Bowing of the legs	4359	MPZ	ORPHA:3115
HP:0002979	Bowing of the legs	1588	CYP19A1	ORPHA:91
HP:0002979	Bowing of the legs	9653	HS2ST1	OMIM:619194
HP:0002979	Bowing of the legs	3043	HBB	ORPHA:231214
HP:0002979	Bowing of the legs	3043	HBB	ORPHA:231226
HP:0002979	Bowing of the legs	6804	STX1A	ORPHA:904
HP:0002979	Bowing of the legs	7461	CLIP2	ORPHA:904
HP:0002979	Bowing of the legs	84277	DNAJC30	ORPHA:904
HP:0002979	Bowing of the legs	8468	FKBP6	ORPHA:904
HP:0002979	Bowing of the legs	5982	RFC2	ORPHA:904
HP:0002979	Bowing of the legs	2969	GTF2I	ORPHA:904
HP:0002979	Bowing of the legs	3984	LIMK1	ORPHA:904
HP:0002979	Bowing of the legs	9569	GTF2IRD1	ORPHA:904
HP:0002979	Bowing of the legs	155382	VPS37D	ORPHA:904
HP:0002979	Bowing of the legs	155368	METTL27	ORPHA:904
HP:0002979	Bowing of the legs	114049	BUD23	ORPHA:904
HP:0002979	Bowing of the legs	7458	EIF4H	ORPHA:904
HP:0002979	Bowing of the legs	84163	GTF2IRD2	ORPHA:904
HP:0002979	Bowing of the legs	26608	TBL2	ORPHA:904
HP:0002979	Bowing of the legs	653361	NCF1	ORPHA:904
HP:0002979	Bowing of the legs	135886	TMEM270	ORPHA:904
HP:0002979	Bowing of the legs	9031	BAZ1B	ORPHA:904
HP:0002979	Bowing of the legs	2006	ELN	ORPHA:904
HP:0002979	Bowing of the legs	5593	PRKG2	OMIM:619636
HP:0002979	Bowing of the legs	4952	OCRL	OMIM:309000
HP:0002979	Bowing of the legs	4952	OCRL	ORPHA:534
HP:0002979	Bowing of the legs	55027	HEATR3	OMIM:620072
HP:0002979	Bowing of the legs	26137	ZBTB20	OMIM:259050
HP:0002979	Bowing of the legs	54928	BPNT2	OMIM:614078
HP:0002979	Bowing of the legs	8838	CCN6	ORPHA:1159
HP:0002979	Bowing of the legs	6473	SHOX	ORPHA:314795
HP:0002979	Bowing of the legs	6473	SHOX	ORPHA:240
HP:0002979	Bowing of the legs	3835	KIF22	OMIM:603546
HP:0002979	Bowing of the legs	3835	KIF22	ORPHA:93360
HP:0002979	Bowing of the legs	7030	TFE3	OMIM:301066
HP:0002979	Bowing of the legs	23162	MAPK8IP3	OMIM:618443
HP:0002979	Bowing of the legs	9394	HS6ST1	OMIM:614880
HP:0002979	Bowing of the legs	23483	TGDS	OMIM:616145
HP:0002979	Bowing of the legs	3977	LIFR	ORPHA:3206
HP:0002979	Bowing of the legs	546	ATRX	OMIM:309580
HP:0002979	Bowing of the legs	5167	ENPP1	OMIM:613312
HP:0002979	Bowing of the legs	7994	KAT6A	OMIM:616268
HP:0002979	Bowing of the legs	1186	CLCN7	ORPHA:53
HP:0002979	Bowing of the legs	2316	FLNA	OMIM:309350
HP:0002979	Bowing of the legs	2316	FLNA	OMIM:305620
HP:0002979	Bowing of the legs	1297	COL9A1	ORPHA:250984
HP:0002979	Bowing of the legs	1297	COL9A1	ORPHA:166002
HP:0002979	Bowing of the legs	1297	COL9A1	OMIM:614134
HP:0002979	Bowing of the legs	1298	COL9A2	ORPHA:250984
HP:0002979	Bowing of the legs	1298	COL9A2	ORPHA:166002
HP:0002979	Bowing of the legs	1299	COL9A3	ORPHA:250984
HP:0002979	Bowing of the legs	1299	COL9A3	ORPHA:166002
HP:0002979	Bowing of the legs	10664	CTCF	OMIM:615502
HP:0002979	Bowing of the legs	2200	FBN1	ORPHA:2462
HP:0002979	Bowing of the legs	6497	SKI	ORPHA:2462
HP:0002979	Bowing of the legs	6497	SKI	OMIM:182212
HP:0002979	Bowing of the legs	55081	IFT57	OMIM:617927
HP:0002979	Bowing of the legs	865	CBFB	OMIM:620099
HP:0002979	Bowing of the legs	54808	DYM	ORPHA:239
HP:0002979	Bowing of the legs	54808	DYM	OMIM:607326
HP:0002979	Bowing of the legs	54808	DYM	OMIM:223800
HP:0002979	Bowing of the legs	8600	TNFSF11	OMIM:259710
HP:0002979	Bowing of the legs	9361	LONP1	OMIM:600373
HP:0002979	Bowing of the legs	10466	COG5	ORPHA:263487
HP:0002979	Bowing of the legs	579	NKX3-2	OMIM:613330
HP:0002979	Bowing of the legs	26160	IFT172	OMIM:615630
HP:0002979	Bowing of the legs	2335	FN1	ORPHA:93315
HP:0002979	Bowing of the legs	23394	ADNP	OMIM:615873
HP:0002979	Bowing of the legs	79903	NAA60	OMIM:620786
HP:0002979	Bowing of the legs	100033413	SNORD116-1	OMIM:176270
HP:0002979	Bowing of the legs	8924	HERC2	OMIM:176270
HP:0002979	Bowing of the legs	23742	NPAP1	OMIM:176270
HP:0002979	Bowing of the legs	338433	SNORD115-1	OMIM:176270
HP:0002979	Bowing of the legs	54551	MAGEL2	OMIM:176270
HP:0002979	Bowing of the legs	7681	MKRN3	OMIM:176270
HP:0002979	Bowing of the legs	145624	PWAR1	OMIM:176270
HP:0002979	Bowing of the legs	3653	IPW	OMIM:176270
HP:0002979	Bowing of the legs	791114	PWRN1	OMIM:176270
HP:0002979	Bowing of the legs	411	ARSB	OMIM:253200
HP:0002979	Bowing of the legs	59341	TRPV4	OMIM:156530
HP:0002979	Bowing of the legs	59341	TRPV4	OMIM:168400
HP:0002979	Bowing of the legs	59341	TRPV4	OMIM:184095
HP:0002979	Bowing of the legs	91179	SCARF2	OMIM:600920
HP:0002979	Bowing of the legs	8882	ZPR1	OMIM:619321
HP:0002979	Bowing of the legs	137682	NDUFAF6	OMIM:618913
HP:0002979	Bowing of the legs	55784	MCTP2	ORPHA:1596
HP:0002979	Bowing of the legs	64135	IFIH1	OMIM:182250
HP:0002979	Bowing of the legs	153642	ARSK	OMIM:619698
HP:0002979	Bowing of the legs	4998	ORC1	OMIM:224690
HP:0002979	Bowing of the legs	84068	SLC10A7	OMIM:618363
HP:0002979	Bowing of the legs	5604	MAP2K1	ORPHA:1340
HP:0002979	Bowing of the legs	5605	MAP2K2	ORPHA:1340
HP:0002979	Bowing of the legs	3845	KRAS	ORPHA:1340
HP:0002979	Bowing of the legs	673	BRAF	ORPHA:1340
HP:0002979	Bowing of the legs	11145	PLAAT3	OMIM:620683
HP:0002979	Bowing of the legs	23111	SPART	ORPHA:101000
HP:0002979	Bowing of the legs	1301	COL11A1	ORPHA:560
HP:0002979	Bowing of the legs	9451	EIF2AK3	OMIM:226980
HP:0002979	Bowing of the legs	860	RUNX2	ORPHA:1452
HP:0002979	Bowing of the legs	7476	WNT7A	OMIM:613005
HP:0002979	Bowing of the legs	3930	LBR	OMIM:618019
HP:0002979	Bowing of the legs	51715	RAB23	ORPHA:65759
HP:0002979	Bowing of the legs	51715	RAB23	OMIM:201000
HP:0002979	Bowing of the legs	1954	MEGF8	ORPHA:65759
HP:0002979	Bowing of the legs	6424	SFRP4	OMIM:265900
HP:0002979	Bowing of the legs	10526	IPO8	OMIM:619472
HP:0002979	Bowing of the legs	6711	SPTBN1	OMIM:619475
HP:0002979	Bowing of the legs	2588	GALNS	OMIM:253000
HP:0002979	Bowing of the legs	80152	CENPT	OMIM:618702
HP:0002979	Bowing of the legs	4796	TONSL	ORPHA:93357
HP:0002979	Bowing of the legs	4796	TONSL	OMIM:271510
HP:0002979	Bowing of the legs	5184	PEPD	ORPHA:742
HP:0002979	Bowing of the legs	5885	RAD21	ORPHA:502
HP:0002979	Bowing of the legs	7227	TRPS1	ORPHA:502
HP:0002979	Bowing of the legs	374879	ZNF699	OMIM:619488
HP:0002979	Bowing of the legs	10651	MTX2	OMIM:619127
HP:0002979	Bowing of the legs	126792	B3GALT6	OMIM:271640
HP:0002979	Bowing of the legs	89970	RSPRY1	ORPHA:457395
HP:0002979	Bowing of the legs	2990	GUSB	OMIM:253220
HP:0002979	Bowing of the legs	8139	GAN	ORPHA:643
HP:0002979	Bowing of the legs	26229	B3GAT3	OMIM:245600
HP:0002979	Bowing of the legs	83452	RAB33B	OMIM:615222
HP:0002979	Bowing of the legs	80169	CTC1	OMIM:612199
HP:0002979	Bowing of the legs	25871	NEPRO	OMIM:618853
HP:0002979	Bowing of the legs	871	SERPINH1	OMIM:613848
HP:0002979	Bowing of the legs	5573	PRKAR1A	ORPHA:950
HP:0002979	Bowing of the legs	5144	PDE4D	ORPHA:950
HP:0002979	Bowing of the legs	9401	RECQL4	ORPHA:221016
HP:0002979	Bowing of the legs	11128	POLR3A	OMIM:264090
HP:0002979	Bowing of the legs	79631	EFL1	OMIM:617941
HP:0002979	Bowing of the legs	124583	CANT1	OMIM:251450
HP:0002979	Bowing of the legs	124583	CANT1	OMIM:617719
HP:0002979	Bowing of the legs	284403	WDR62	OMIM:604317
HP:0002979	Bowing of the legs	3549	IHH	ORPHA:63446
HP:0002979	Bowing of the legs	3549	IHH	OMIM:607778
HP:0002979	Bowing of the legs	1758	DMP1	ORPHA:289176
HP:0002979	Bowing of the legs	4052	LTBP1	OMIM:619451
HP:0002979	Bowing of the legs	6137	RPL13	OMIM:618728
HP:0002979	Bowing of the legs	64131	XYLT1	OMIM:615777
HP:0002979	Bowing of the legs	9675	TTI1	OMIM:620445
HP:0002979	Bowing of the legs	9939	RBM8A	ORPHA:3320
HP:0002979	Bowing of the legs	9939	RBM8A	OMIM:274000
HP:0002979	Bowing of the legs	3248	HPGD	ORPHA:2796
HP:0002979	Bowing of the legs	6578	SLCO2A1	ORPHA:2796
HP:0002979	Bowing of the legs	26123	TCTN3	ORPHA:2753
HP:0002979	Bowing of the legs	633	BGN	OMIM:300106
HP:0002979	Bowing of the legs	5442	POLRMT	OMIM:619743
HP:0002979	Bowing of the legs	23594	ORC6	OMIM:613803
HP:0002979	Bowing of the legs	6023	RMRP	OMIM:250460
HP:0002979	Bowing of the legs	64682	ANAPC1	ORPHA:221008
HP:0002979	Bowing of the legs	1576	CYP3A4	OMIM:619073
HP:0002979	Bowing of the legs	4921	DDR2	OMIM:271665
HP:0002979	Bowing of the legs	5251	PHEX	ORPHA:89936
HP:0002979	Bowing of the legs	5251	PHEX	OMIM:307800
HP:0002979	Bowing of the legs	8074	FGF23	ORPHA:89937
HP:0002979	Bowing of the legs	1184	CLCN5	OMIM:300554
HP:0002979	Bowing of the legs	1184	CLCN5	OMIM:300009
HP:0002979	Bowing of the legs	142680	SLC34A3	OMIM:241530
HP:0002979	Bowing of the legs	142680	SLC34A3	ORPHA:157215
HP:0002979	Bowing of the legs	55325	UFSP2	OMIM:617974
HP:0002979	Bowing of the legs	9060	PAPSS2	OMIM:612847
HP:0002979	Bowing of the legs	65992	DDRGK1	ORPHA:93352
HP:0002979	Bowing of the legs	4148	MATN3	OMIM:608728
HP:0002979	Bowing of the legs	4148	MATN3	ORPHA:156728
HP:0002979	Bowing of the legs	51360	MBTPS2	OMIM:301014
HP:0002979	Bowing of the legs	249	ALPL	OMIM:241500
HP:0002979	Bowing of the legs	249	ALPL	OMIM:241510
HP:0002979	Bowing of the legs	8318	CDC45	OMIM:617063
HP:0002979	Bowing of the legs	5130	PCYT1A	ORPHA:85167
HP:0002979	Bowing of the legs	5130	PCYT1A	OMIM:608940
HP:0002979	Bowing of the legs	5176	SERPINF1	OMIM:613982
HP:0002979	Bowing of the legs	9158	FIBP	OMIM:617107
HP:0002979	Bowing of the legs	23187	PHLDB1	OMIM:620639
HP:0002979	Bowing of the legs	10686	CLDN16	OMIM:248250
HP:0002979	Bowing of the legs	120227	CYP2R1	OMIM:600081
HP:0002979	Bowing of the legs	1962	EHHADH	OMIM:615605
HP:0002979	Bowing of the legs	4322	MMP13	OMIM:250400
HP:0002979	Bowing of the legs	1300	COL10A1	ORPHA:174
HP:0002979	Bowing of the legs	9321	TRIP11	OMIM:200600
HP:0002979	Bowing of the legs	1277	COL1A1	OMIM:114000
HP:0002979	Bowing of the legs	4318	MMP9	OMIM:613073
HP:0002979	Bowing of the legs	6569	SLC34A1	ORPHA:157215
HP:0002979	Bowing of the legs	11014	KDELR2	OMIM:619131
HP:0002979	Bowing of the legs	10491	CRTAP	OMIM:610682
HP:0002979	Bowing of the legs	2261	FGFR3	OMIM:100800
HP:0002979	Bowing of the legs	2261	FGFR3	ORPHA:15
HP:0002979	Bowing of the legs	3339	HSPG2	OMIM:255800
HP:0002979	Bowing of the legs	3339	HSPG2	ORPHA:1865
HP:0002979	Bowing of the legs	2263	FGFR2	ORPHA:313855
HP:0002979	Bowing of the legs	372	ARCN1	OMIM:617164
HP:0002979	Bowing of the legs	1594	CYP27B1	OMIM:264700
HP:0002979	Bowing of the legs	4507	MTAP	OMIM:112250
HP:0002979	Bowing of the legs	7421	VDR	OMIM:277440
HP:0002979	Bowing of the legs	4763	NF1	ORPHA:97685
HP:0002979	Bowing of the legs	54	ACP5	ORPHA:1855
HP:0002979	Bowing of the legs	121340	SP7	OMIM:613849
HP:0002979	Bowing of the legs	79659	DYNC2H1	OMIM:613091
HP:0002979	Bowing of the legs	5447	POR	OMIM:201750
HP:0002979	Bowing of the legs	5447	POR	ORPHA:95699
HP:0002979	Bowing of the legs	5447	POR	OMIM:207410
HP:0002979	Bowing of the legs	55503	TRPV6	OMIM:618188
HP:0002979	Bowing of the legs	100151683	RNU4ATAC	OMIM:210710
HP:0002979	Bowing of the legs	5352	PLOD2	OMIM:609220
HP:0002979	Bowing of the legs	6662	SOX9	ORPHA:140
HP:0002979	Bowing of the legs	6662	SOX9	OMIM:114290
HP:0002979	Bowing of the legs	91754	NEK9	OMIM:617022
HP:0002979	Bowing of the legs	3911	LAMA5	OMIM:620076
HP:0002979	Bowing of the legs	64175	P3H1	OMIM:610915
HP:0002979	Bowing of the legs	25885	POLR1A	OMIM:616462
HP:0002979	Bowing of the legs	55603	TENT5A	OMIM:617952
HP:0002979	Bowing of the legs	727857	BHLHA9	ORPHA:3329
HP:0002979	Bowing of the legs	284086	NEK8	OMIM:615415
HP:0002979	Bowing of the legs	92344	GORAB	OMIM:231070
HP:0002979	Bowing of the legs	166929	SGMS2	OMIM:126550
HP:0002979	Bowing of the legs	55151	TMEM38B	OMIM:615066
HP:0002979	Bowing of the legs	8792	TNFRSF11A	OMIM:602080
HP:0002979	Bowing of the legs	649	BMP1	OMIM:614856
HP:0002979	Bowing of the legs	55112	DYNC2I1	OMIM:615503
HP:0002979	Bowing of the legs	65250	CPLANE1	OMIM:277170
HP:0002979	Bowing of the legs	23314	SATB2	ORPHA:251028
HP:0002979	Bowing of the legs	5159	PDGFRB	OMIM:601812
HP:0002979	Bowing of the legs	22858	CILK1	OMIM:612651
HP:0002979	Bowing of the legs	64093	SMOC1	OMIM:206920
HP:0002979	Bowing of the legs	64093	SMOC1	ORPHA:1106
HP:0002979	Bowing of the legs	4041	LRP5	OMIM:259770
HP:0002979	Bowing of the legs	388015	RTL1	ORPHA:96334
HP:0002979	Bowing of the legs	8788	DLK1	ORPHA:96334
HP:0002979	Bowing of the legs	55384	MEG3	ORPHA:96334
HP:0002979	Bowing of the legs	8218	CLTCL1	ORPHA:453510
HP:0002979	Bowing of the legs	2317	FLNB	OMIM:108721
HP:0002979	Bowing of the legs	2317	FLNB	OMIM:108720
HP:0002979	Bowing of the legs	1302	COL11A2	ORPHA:1427
HP:0002979	Bowing of the legs	5116	PCNT	OMIM:210720
HP:0002979	Bowing of the legs	26040	SETBP1	OMIM:269150
HP:0002979	Bowing of the legs	26040	SETBP1	ORPHA:798
HP:0002979	Bowing of the legs	4982	TNFRSF11B	OMIM:239000
HP:0002979	Bowing of the legs	8200	GDF5	OMIM:201250
HP:0002979	Bowing of the legs	57003	CCDC47	OMIM:618268
HP:0012000	EEG with generalized spikes	1106	CHD2	OMIM:615369
HP:0012000	EEG with generalized spikes	785	CACNB4	OMIM:613855
HP:0012001	EEG with generalized polyspikes	1106	CHD2	OMIM:615369
HP:0012001	EEG with generalized polyspikes	114327	EFHC1	OMIM:254770
HP:0012001	EEG with generalized polyspikes	23732	FRRS1L	ORPHA:725
HP:0012001	EEG with generalized polyspikes	2903	GRIN2A	ORPHA:725
HP:0012001	EEG with generalized polyspikes	2896	GRN	OMIM:614706
HP:0012001	EEG with generalized polyspikes	5277	PIGA	OMIM:300868
HP:0012001	EEG with generalized polyspikes	26047	CNTNAP2	ORPHA:163681
HP:0012002	Experiential epileptic aura	5138	PDE2A	ORPHA:31709
HP:0012002	Experiential epileptic aura	6334	SCN8A	ORPHA:31709
HP:0012002	Experiential epileptic aura	112476	PRRT2	ORPHA:31709
HP:0012002	Experiential epileptic aura	9211	LGI1	OMIM:600512
HP:0012002	Experiential epileptic aura	5649	RELN	OMIM:600512
HP:0012002	Experiential epileptic aura	64780	MICAL1	OMIM:600512
HP:0012002	Experiential epileptic aura	51083	GAL	OMIM:616461
HP:0012002	Experiential epileptic aura	8131	NPRL3	ORPHA:98820
HP:0012002	Experiential epileptic aura	10641	NPRL2	ORPHA:98820
HP:0012002	Experiential epileptic aura	9681	DEPDC5	ORPHA:98820
HP:0012004	Focal cognitive seizure with deja vu/jamais vu	9211	LGI1	OMIM:600512
HP:0012004	Focal cognitive seizure with deja vu/jamais vu	5649	RELN	OMIM:600512
HP:0012004	Focal cognitive seizure with deja vu/jamais vu	64780	MICAL1	OMIM:600512
HP:0012004	Focal cognitive seizure with deja vu/jamais vu	51083	GAL	OMIM:616461
HP:0012004	Focal cognitive seizure with deja vu/jamais vu	8131	NPRL3	ORPHA:98820
HP:0012004	Focal cognitive seizure with deja vu/jamais vu	10641	NPRL2	ORPHA:98820
HP:0012004	Focal cognitive seizure with deja vu/jamais vu	9681	DEPDC5	ORPHA:98820
HP:0012005	Deja vu aura	9211	LGI1	OMIM:600512
HP:0012005	Deja vu aura	5649	RELN	OMIM:600512
HP:0012005	Deja vu aura	64780	MICAL1	OMIM:600512
HP:0012005	Deja vu aura	51083	GAL	OMIM:616461
HP:0012005	Deja vu aura	8131	NPRL3	ORPHA:98820
HP:0012005	Deja vu aura	10641	NPRL2	ORPHA:98820
HP:0012005	Deja vu aura	9681	DEPDC5	ORPHA:98820
HP:0002980	Femoral bowing	4322	MMP13	OMIM:602111
HP:0002980	Femoral bowing	4322	MMP13	ORPHA:93356
HP:0002980	Femoral bowing	2261	FGFR3	OMIM:187600
HP:0002980	Femoral bowing	2261	FGFR3	OMIM:616482
HP:0002980	Femoral bowing	2261	FGFR3	ORPHA:85165
HP:0002980	Femoral bowing	2261	FGFR3	ORPHA:1860
HP:0002980	Femoral bowing	2261	FGFR3	OMIM:100800
HP:0002980	Femoral bowing	79659	DYNC2H1	OMIM:613091
HP:0002980	Femoral bowing	1300	COL10A1	OMIM:156500
HP:0002980	Femoral bowing	1300	COL10A1	ORPHA:174
HP:0002980	Femoral bowing	5447	POR	OMIM:201750
HP:0002980	Femoral bowing	5447	POR	ORPHA:95699
HP:0002980	Femoral bowing	5447	POR	OMIM:207410
HP:0002980	Femoral bowing	1184	CLCN5	OMIM:300554
HP:0002980	Femoral bowing	1184	CLCN5	OMIM:300009
HP:0002980	Femoral bowing	142680	SLC34A3	OMIM:241530
HP:0002980	Femoral bowing	1594	CYP27B1	ORPHA:289157
HP:0002980	Femoral bowing	1594	CYP27B1	OMIM:264700
HP:0002980	Femoral bowing	120227	CYP2R1	ORPHA:289157
HP:0002980	Femoral bowing	120227	CYP2R1	OMIM:600081
HP:0002980	Femoral bowing	55503	TRPV6	OMIM:618188
HP:0002980	Femoral bowing	5593	PRKG2	OMIM:619638
HP:0002980	Femoral bowing	100151683	RNU4ATAC	OMIM:210710
HP:0002980	Femoral bowing	6023	RMRP	OMIM:250250
HP:0002980	Femoral bowing	89970	RSPRY1	OMIM:616723
HP:0002980	Femoral bowing	5352	PLOD2	OMIM:609220
HP:0002980	Femoral bowing	4148	MATN3	OMIM:608728
HP:0002980	Femoral bowing	6662	SOX9	ORPHA:140
HP:0002980	Femoral bowing	6662	SOX9	OMIM:114290
HP:0002980	Femoral bowing	91754	NEK9	OMIM:617022
HP:0002980	Femoral bowing	91179	SCARF2	OMIM:600920
HP:0002980	Femoral bowing	2263	FGFR2	OMIM:207410
HP:0002980	Femoral bowing	1277	COL1A1	OMIM:166200
HP:0002980	Femoral bowing	2316	FLNA	OMIM:304120
HP:0002980	Femoral bowing	2316	FLNA	OMIM:311300
HP:0002980	Femoral bowing	3911	LAMA5	OMIM:620076
HP:0002980	Femoral bowing	1301	COL11A1	ORPHA:440354
HP:0002980	Femoral bowing	64175	P3H1	OMIM:610915
HP:0002980	Femoral bowing	54808	DYM	OMIM:223800
HP:0002980	Femoral bowing	5251	PHEX	OMIM:307800
HP:0002980	Femoral bowing	7476	WNT7A	OMIM:228930
HP:0002980	Femoral bowing	7476	WNT7A	OMIM:276820
HP:0002980	Femoral bowing	4125	MAN2B1	OMIM:248500
HP:0002980	Femoral bowing	25885	POLR1A	OMIM:616462
HP:0002980	Femoral bowing	55603	TENT5A	OMIM:617952
HP:0002980	Femoral bowing	727857	BHLHA9	ORPHA:3329
HP:0002980	Femoral bowing	284086	NEK8	OMIM:615415
HP:0002980	Femoral bowing	92344	GORAB	OMIM:231070
HP:0002980	Femoral bowing	9939	RBM8A	OMIM:274000
HP:0002980	Femoral bowing	166929	SGMS2	OMIM:126550
HP:0002980	Femoral bowing	3977	LIFR	OMIM:601559
HP:0002980	Femoral bowing	55151	TMEM38B	OMIM:615066
HP:0002980	Femoral bowing	7421	VDR	OMIM:277440
HP:0002980	Femoral bowing	25871	NEPRO	OMIM:618853
HP:0002980	Femoral bowing	8792	TNFRSF11A	OMIM:602080
HP:0002980	Femoral bowing	649	BMP1	OMIM:614856
HP:0002980	Femoral bowing	3930	LBR	OMIM:618019
HP:0002980	Femoral bowing	55112	DYNC2I1	OMIM:615503
HP:0002980	Femoral bowing	5130	PCYT1A	OMIM:608940
HP:0002980	Femoral bowing	1278	COL1A2	OMIM:166220
HP:0002980	Femoral bowing	4982	TNFRSF11B	OMIM:239000
HP:0002980	Femoral bowing	1758	DMP1	ORPHA:289176
HP:0002980	Femoral bowing	5167	ENPP1	ORPHA:289176
HP:0002980	Femoral bowing	8200	GDF5	OMIM:201250
HP:0002981	Abnormality of the calf	1497	CTNS	OMIM:219800
HP:0002981	Abnormality of the calf	875	CBS	ORPHA:394
HP:0002981	Abnormality of the calf	51256	TBC1D7	OMIM:248000
HP:0002981	Abnormality of the calf	2972	BRF1	OMIM:616202
HP:0002981	Abnormality of the calf	652	BMP4	ORPHA:828
HP:0002981	Abnormality of the calf	7360	UGP2	OMIM:618744
HP:0002981	Abnormality of the calf	10992	SF3B2	OMIM:164210
HP:0002981	Abnormality of the calf	1836	SLC26A2	ORPHA:56304
HP:0002981	Abnormality of the calf	1836	SLC26A2	ORPHA:93307
HP:0002981	Abnormality of the calf	1836	SLC26A2	ORPHA:628
HP:0002981	Abnormality of the calf	1836	SLC26A2	OMIM:222600
HP:0002981	Abnormality of the calf	4125	MAN2B1	ORPHA:309282
HP:0002981	Abnormality of the calf	58	ACTA1	ORPHA:171436
HP:0002981	Abnormality of the calf	7169	TPM2	ORPHA:171436
HP:0002981	Abnormality of the calf	4703	NEB	ORPHA:171436
HP:0002981	Abnormality of the calf	10324	KLHL41	ORPHA:171436
HP:0002981	Abnormality of the calf	56203	LMOD3	ORPHA:171436
HP:0002981	Abnormality of the calf	1073	CFL2	ORPHA:171436
HP:0002981	Abnormality of the calf	1278	COL1A2	ORPHA:230851
HP:0002981	Abnormality of the calf	3021	H3-3B	OMIM:619721
HP:0002981	Abnormality of the calf	55790	CSGALNACT1	OMIM:618870
HP:0002981	Abnormality of the calf	23322	RPGRIP1L	OMIM:611560
HP:0002981	Abnormality of the calf	176	ACAN	OMIM:608361
HP:0002981	Abnormality of the calf	54681	P4HTM	ORPHA:436141
HP:0002981	Abnormality of the calf	54681	P4HTM	OMIM:618493
HP:0002981	Abnormality of the calf	84572	GNPTG	OMIM:252605
HP:0002981	Abnormality of the calf	5745	PTH1R	ORPHA:296
HP:0002981	Abnormality of the calf	3418	IDH2	ORPHA:296
HP:0002981	Abnormality of the calf	3417	IDH1	ORPHA:296
HP:0002981	Abnormality of the calf	64324	NSD1	OMIM:117550
HP:0002981	Abnormality of the calf	9469	CHST3	OMIM:143095
HP:0002981	Abnormality of the calf	9469	CHST3	ORPHA:263463
HP:0002981	Abnormality of the calf	9469	CHST3	OMIM:245600
HP:0002981	Abnormality of the calf	54880	BCOR	ORPHA:2712
HP:0002981	Abnormality of the calf	815	CAMK2A	OMIM:617798
HP:0002981	Abnormality of the calf	4853	NOTCH2	OMIM:102500
HP:0002981	Abnormality of the calf	10381	TUBB3	ORPHA:300570
HP:0002981	Abnormality of the calf	55699	IARS2	ORPHA:436174
HP:0002981	Abnormality of the calf	55699	IARS2	OMIM:616007
HP:0002981	Abnormality of the calf	83480	PUS3	ORPHA:488627
HP:0002981	Abnormality of the calf	157680	VPS13B	OMIM:216550
HP:0002981	Abnormality of the calf	157680	VPS13B	ORPHA:193
HP:0002981	Abnormality of the calf	5566	PRKACA	ORPHA:289
HP:0002981	Abnormality of the calf	5566	PRKACA	OMIM:619142
HP:0002981	Abnormality of the calf	5567	PRKACB	ORPHA:289
HP:0002981	Abnormality of the calf	5567	PRKACB	OMIM:619143
HP:0002981	Abnormality of the calf	2735	GLI1	ORPHA:289
HP:0002981	Abnormality of the calf	2735	GLI1	OMIM:618123
HP:0002981	Abnormality of the calf	2121	EVC	ORPHA:289
HP:0002981	Abnormality of the calf	2121	EVC	OMIM:225500
HP:0002981	Abnormality of the calf	51626	DYNC2LI1	ORPHA:289
HP:0002981	Abnormality of the calf	132884	EVC2	ORPHA:289
HP:0002981	Abnormality of the calf	132884	EVC2	OMIM:225500
HP:0002981	Abnormality of the calf	9839	ZEB2	ORPHA:261552
HP:0002981	Abnormality of the calf	9839	ZEB2	ORPHA:261537
HP:0002981	Abnormality of the calf	1311	COMP	OMIM:132400
HP:0002981	Abnormality of the calf	1311	COMP	OMIM:177170
HP:0002981	Abnormality of the calf	1311	COMP	ORPHA:93308
HP:0002981	Abnormality of the calf	1311	COMP	ORPHA:750
HP:0002981	Abnormality of the calf	2720	GLB1	OMIM:253010
HP:0002981	Abnormality of the calf	3425	IDUA	OMIM:607016
HP:0002981	Abnormality of the calf	374654	KIF7	OMIM:607131
HP:0002981	Abnormality of the calf	374654	KIF7	ORPHA:166024
HP:0002981	Abnormality of the calf	5376	PMP22	ORPHA:3115
HP:0002981	Abnormality of the calf	4359	MPZ	ORPHA:3115
HP:0002981	Abnormality of the calf	1588	CYP19A1	ORPHA:91
HP:0002981	Abnormality of the calf	9653	HS2ST1	OMIM:619194
HP:0002981	Abnormality of the calf	3043	HBB	ORPHA:231214
HP:0002981	Abnormality of the calf	3043	HBB	ORPHA:231226
HP:0002981	Abnormality of the calf	6804	STX1A	ORPHA:904
HP:0002981	Abnormality of the calf	7461	CLIP2	ORPHA:904
HP:0002981	Abnormality of the calf	84277	DNAJC30	ORPHA:904
HP:0002981	Abnormality of the calf	8468	FKBP6	ORPHA:904
HP:0002981	Abnormality of the calf	5982	RFC2	ORPHA:904
HP:0002981	Abnormality of the calf	2969	GTF2I	ORPHA:904
HP:0002981	Abnormality of the calf	3984	LIMK1	ORPHA:904
HP:0002981	Abnormality of the calf	9569	GTF2IRD1	ORPHA:904
HP:0002981	Abnormality of the calf	155382	VPS37D	ORPHA:904
HP:0002981	Abnormality of the calf	155368	METTL27	ORPHA:904
HP:0002981	Abnormality of the calf	114049	BUD23	ORPHA:904
HP:0002981	Abnormality of the calf	7458	EIF4H	ORPHA:904
HP:0002981	Abnormality of the calf	84163	GTF2IRD2	ORPHA:904
HP:0002981	Abnormality of the calf	26608	TBL2	ORPHA:904
HP:0002981	Abnormality of the calf	653361	NCF1	ORPHA:904
HP:0002981	Abnormality of the calf	135886	TMEM270	ORPHA:904
HP:0002981	Abnormality of the calf	9031	BAZ1B	ORPHA:904
HP:0002981	Abnormality of the calf	2006	ELN	ORPHA:904
HP:0002981	Abnormality of the calf	5593	PRKG2	OMIM:619636
HP:0002981	Abnormality of the calf	4952	OCRL	OMIM:309000
HP:0002981	Abnormality of the calf	4952	OCRL	ORPHA:534
HP:0002981	Abnormality of the calf	55027	HEATR3	OMIM:620072
HP:0002981	Abnormality of the calf	26137	ZBTB20	OMIM:259050
HP:0002981	Abnormality of the calf	54928	BPNT2	OMIM:614078
HP:0002981	Abnormality of the calf	8838	CCN6	ORPHA:1159
HP:0002981	Abnormality of the calf	3835	KIF22	OMIM:603546
HP:0002981	Abnormality of the calf	3835	KIF22	ORPHA:93360
HP:0002981	Abnormality of the calf	7030	TFE3	OMIM:301066
HP:0002981	Abnormality of the calf	23162	MAPK8IP3	OMIM:618443
HP:0002981	Abnormality of the calf	9394	HS6ST1	OMIM:614880
HP:0002981	Abnormality of the calf	23483	TGDS	OMIM:616145
HP:0002981	Abnormality of the calf	3977	LIFR	ORPHA:3206
HP:0002981	Abnormality of the calf	546	ATRX	OMIM:309580
HP:0002981	Abnormality of the calf	5167	ENPP1	OMIM:613312
HP:0002981	Abnormality of the calf	7994	KAT6A	OMIM:616268
HP:0002981	Abnormality of the calf	1186	CLCN7	ORPHA:53
HP:0002981	Abnormality of the calf	2316	FLNA	OMIM:309350
HP:0002981	Abnormality of the calf	2316	FLNA	OMIM:305620
HP:0002981	Abnormality of the calf	1297	COL9A1	ORPHA:250984
HP:0002981	Abnormality of the calf	1297	COL9A1	ORPHA:166002
HP:0002981	Abnormality of the calf	1297	COL9A1	OMIM:614134
HP:0002981	Abnormality of the calf	1298	COL9A2	ORPHA:250984
HP:0002981	Abnormality of the calf	1298	COL9A2	ORPHA:166002
HP:0002981	Abnormality of the calf	1299	COL9A3	ORPHA:250984
HP:0002981	Abnormality of the calf	1299	COL9A3	ORPHA:166002
HP:0002981	Abnormality of the calf	10664	CTCF	OMIM:615502
HP:0002981	Abnormality of the calf	2200	FBN1	ORPHA:2462
HP:0002981	Abnormality of the calf	6497	SKI	ORPHA:2462
HP:0002981	Abnormality of the calf	6497	SKI	OMIM:182212
HP:0002981	Abnormality of the calf	55081	IFT57	OMIM:617927
HP:0002981	Abnormality of the calf	865	CBFB	OMIM:620099
HP:0002981	Abnormality of the calf	54808	DYM	ORPHA:239
HP:0002981	Abnormality of the calf	54808	DYM	OMIM:607326
HP:0002981	Abnormality of the calf	54808	DYM	OMIM:223800
HP:0002981	Abnormality of the calf	8600	TNFSF11	OMIM:259710
HP:0002981	Abnormality of the calf	9361	LONP1	OMIM:600373
HP:0002981	Abnormality of the calf	10466	COG5	ORPHA:263487
HP:0002981	Abnormality of the calf	579	NKX3-2	OMIM:613330
HP:0002981	Abnormality of the calf	26160	IFT172	OMIM:615630
HP:0002981	Abnormality of the calf	2335	FN1	ORPHA:93315
HP:0002981	Abnormality of the calf	23394	ADNP	OMIM:615873
HP:0002981	Abnormality of the calf	79903	NAA60	OMIM:620786
HP:0002981	Abnormality of the calf	100033413	SNORD116-1	OMIM:176270
HP:0002981	Abnormality of the calf	8924	HERC2	OMIM:176270
HP:0002981	Abnormality of the calf	23742	NPAP1	OMIM:176270
HP:0002981	Abnormality of the calf	338433	SNORD115-1	OMIM:176270
HP:0002981	Abnormality of the calf	54551	MAGEL2	OMIM:176270
HP:0002981	Abnormality of the calf	7681	MKRN3	OMIM:176270
HP:0002981	Abnormality of the calf	145624	PWAR1	OMIM:176270
HP:0002981	Abnormality of the calf	3653	IPW	OMIM:176270
HP:0002981	Abnormality of the calf	791114	PWRN1	OMIM:176270
HP:0002981	Abnormality of the calf	411	ARSB	OMIM:253200
HP:0002981	Abnormality of the calf	59341	TRPV4	OMIM:156530
HP:0002981	Abnormality of the calf	59341	TRPV4	OMIM:168400
HP:0002981	Abnormality of the calf	59341	TRPV4	OMIM:184095
HP:0002981	Abnormality of the calf	91179	SCARF2	OMIM:600920
HP:0002981	Abnormality of the calf	8882	ZPR1	OMIM:619321
HP:0002981	Abnormality of the calf	137682	NDUFAF6	OMIM:618913
HP:0002981	Abnormality of the calf	55784	MCTP2	ORPHA:1596
HP:0002981	Abnormality of the calf	64135	IFIH1	OMIM:182250
HP:0002981	Abnormality of the calf	153642	ARSK	OMIM:619698
HP:0002981	Abnormality of the calf	4998	ORC1	OMIM:224690
HP:0002981	Abnormality of the calf	84068	SLC10A7	OMIM:618363
HP:0002981	Abnormality of the calf	5604	MAP2K1	ORPHA:1340
HP:0002981	Abnormality of the calf	5605	MAP2K2	ORPHA:1340
HP:0002981	Abnormality of the calf	3845	KRAS	ORPHA:1340
HP:0002981	Abnormality of the calf	673	BRAF	ORPHA:1340
HP:0002981	Abnormality of the calf	11145	PLAAT3	OMIM:620683
HP:0002981	Abnormality of the calf	23111	SPART	ORPHA:101000
HP:0002981	Abnormality of the calf	1301	COL11A1	ORPHA:560
HP:0002981	Abnormality of the calf	9451	EIF2AK3	OMIM:226980
HP:0002981	Abnormality of the calf	860	RUNX2	ORPHA:1452
HP:0002981	Abnormality of the calf	3930	LBR	OMIM:618019
HP:0002981	Abnormality of the calf	51715	RAB23	ORPHA:65759
HP:0002981	Abnormality of the calf	51715	RAB23	OMIM:201000
HP:0002981	Abnormality of the calf	1954	MEGF8	ORPHA:65759
HP:0002981	Abnormality of the calf	6424	SFRP4	OMIM:265900
HP:0002981	Abnormality of the calf	10526	IPO8	OMIM:619472
HP:0002981	Abnormality of the calf	6711	SPTBN1	OMIM:619475
HP:0002981	Abnormality of the calf	2588	GALNS	OMIM:253000
HP:0002981	Abnormality of the calf	80152	CENPT	OMIM:618702
HP:0002981	Abnormality of the calf	4796	TONSL	ORPHA:93357
HP:0002981	Abnormality of the calf	4796	TONSL	OMIM:271510
HP:0002981	Abnormality of the calf	5184	PEPD	ORPHA:742
HP:0002981	Abnormality of the calf	5885	RAD21	ORPHA:502
HP:0002981	Abnormality of the calf	7227	TRPS1	ORPHA:502
HP:0002981	Abnormality of the calf	374879	ZNF699	OMIM:619488
HP:0002981	Abnormality of the calf	10651	MTX2	OMIM:619127
HP:0002981	Abnormality of the calf	126792	B3GALT6	OMIM:271640
HP:0002981	Abnormality of the calf	89970	RSPRY1	ORPHA:457395
HP:0002981	Abnormality of the calf	2990	GUSB	OMIM:253220
HP:0002981	Abnormality of the calf	8139	GAN	ORPHA:643
HP:0002981	Abnormality of the calf	26229	B3GAT3	OMIM:245600
HP:0002981	Abnormality of the calf	83452	RAB33B	OMIM:615222
HP:0002981	Abnormality of the calf	80169	CTC1	OMIM:612199
HP:0002981	Abnormality of the calf	25871	NEPRO	OMIM:618853
HP:0002981	Abnormality of the calf	871	SERPINH1	OMIM:613848
HP:0002981	Abnormality of the calf	5573	PRKAR1A	ORPHA:950
HP:0002981	Abnormality of the calf	5144	PDE4D	ORPHA:950
HP:0002981	Abnormality of the calf	9401	RECQL4	ORPHA:221016
HP:0002981	Abnormality of the calf	11128	POLR3A	OMIM:264090
HP:0002981	Abnormality of the calf	79631	EFL1	OMIM:617941
HP:0002981	Abnormality of the calf	124583	CANT1	OMIM:251450
HP:0002981	Abnormality of the calf	124583	CANT1	OMIM:617719
HP:0002981	Abnormality of the calf	284403	WDR62	OMIM:604317
HP:0002981	Abnormality of the calf	3549	IHH	ORPHA:63446
HP:0002981	Abnormality of the calf	3549	IHH	OMIM:607778
HP:0002981	Abnormality of the calf	1758	DMP1	ORPHA:289176
HP:0002981	Abnormality of the calf	4052	LTBP1	OMIM:619451
HP:0002981	Abnormality of the calf	6137	RPL13	OMIM:618728
HP:0002981	Abnormality of the calf	64131	XYLT1	OMIM:615777
HP:0002981	Abnormality of the calf	9675	TTI1	OMIM:620445
HP:0002981	Abnormality of the calf	9939	RBM8A	ORPHA:3320
HP:0002981	Abnormality of the calf	9939	RBM8A	OMIM:274000
HP:0002981	Abnormality of the calf	6578	SLCO2A1	ORPHA:2796
HP:0002981	Abnormality of the calf	26123	TCTN3	ORPHA:2753
HP:0002981	Abnormality of the calf	633	BGN	OMIM:300106
HP:0002981	Abnormality of the calf	5442	POLRMT	OMIM:619743
HP:0002981	Abnormality of the calf	23594	ORC6	OMIM:613803
HP:0002981	Abnormality of the calf	6023	RMRP	OMIM:250460
HP:0002981	Abnormality of the calf	64682	ANAPC1	ORPHA:221008
HP:0002981	Abnormality of the calf	1576	CYP3A4	OMIM:619073
HP:0002981	Abnormality of the calf	4921	DDR2	OMIM:271665
HP:0002981	Abnormality of the calf	5251	PHEX	ORPHA:89936
HP:0002981	Abnormality of the calf	5251	PHEX	OMIM:307800
HP:0002981	Abnormality of the calf	8074	FGF23	ORPHA:89937
HP:0002981	Abnormality of the calf	1184	CLCN5	OMIM:300554
HP:0002981	Abnormality of the calf	1184	CLCN5	OMIM:300009
HP:0002981	Abnormality of the calf	142680	SLC34A3	OMIM:241530
HP:0002981	Abnormality of the calf	142680	SLC34A3	ORPHA:157215
HP:0002981	Abnormality of the calf	55325	UFSP2	OMIM:617974
HP:0002981	Abnormality of the calf	9060	PAPSS2	OMIM:612847
HP:0002981	Abnormality of the calf	65992	DDRGK1	ORPHA:93352
HP:0002981	Abnormality of the calf	4148	MATN3	OMIM:608728
HP:0002981	Abnormality of the calf	4148	MATN3	ORPHA:156728
HP:0002981	Abnormality of the calf	51360	MBTPS2	OMIM:301014
HP:0002981	Abnormality of the calf	249	ALPL	OMIM:241500
HP:0002981	Abnormality of the calf	249	ALPL	OMIM:241510
HP:0002981	Abnormality of the calf	8318	CDC45	OMIM:617063
HP:0002981	Abnormality of the calf	5130	PCYT1A	ORPHA:85167
HP:0002981	Abnormality of the calf	5130	PCYT1A	OMIM:608940
HP:0002981	Abnormality of the calf	5176	SERPINF1	OMIM:613982
HP:0002981	Abnormality of the calf	9158	FIBP	OMIM:617107
HP:0002981	Abnormality of the calf	23187	PHLDB1	OMIM:620639
HP:0002981	Abnormality of the calf	10686	CLDN16	OMIM:248250
HP:0002981	Abnormality of the calf	120227	CYP2R1	OMIM:600081
HP:0002981	Abnormality of the calf	1962	EHHADH	OMIM:615605
HP:0002981	Abnormality of the calf	4322	MMP13	OMIM:250400
HP:0002981	Abnormality of the calf	1300	COL10A1	ORPHA:174
HP:0002981	Abnormality of the calf	9321	TRIP11	OMIM:200600
HP:0002981	Abnormality of the calf	1277	COL1A1	OMIM:114000
HP:0002981	Abnormality of the calf	4318	MMP9	OMIM:613073
HP:0002981	Abnormality of the calf	6569	SLC34A1	ORPHA:157215
HP:0002981	Abnormality of the calf	11014	KDELR2	OMIM:619131
HP:0002981	Abnormality of the calf	10491	CRTAP	OMIM:610682
HP:0002981	Abnormality of the calf	2261	FGFR3	OMIM:100800
HP:0002981	Abnormality of the calf	2261	FGFR3	ORPHA:15
HP:0002981	Abnormality of the calf	3339	HSPG2	OMIM:255800
HP:0002981	Abnormality of the calf	3339	HSPG2	ORPHA:1865
HP:0002981	Abnormality of the calf	2263	FGFR2	ORPHA:313855
HP:0002981	Abnormality of the calf	372	ARCN1	OMIM:617164
HP:0002981	Abnormality of the calf	1594	CYP27B1	OMIM:264700
HP:0002981	Abnormality of the calf	4507	MTAP	OMIM:112250
HP:0002981	Abnormality of the calf	7421	VDR	OMIM:277440
HP:0002981	Abnormality of the calf	4763	NF1	ORPHA:97685
HP:0002981	Abnormality of the calf	54	ACP5	ORPHA:1855
HP:0002981	Abnormality of the calf	121340	SP7	OMIM:613849
HP:0002981	Abnormality of the calf	79659	DYNC2H1	OMIM:613091
HP:0002981	Abnormality of the calf	5447	POR	OMIM:201750
HP:0002981	Abnormality of the calf	5447	POR	ORPHA:95699
HP:0002981	Abnormality of the calf	5447	POR	OMIM:207410
HP:0002981	Abnormality of the calf	55503	TRPV6	OMIM:618188
HP:0002981	Abnormality of the calf	100151683	RNU4ATAC	OMIM:210710
HP:0002981	Abnormality of the calf	5352	PLOD2	OMIM:609220
HP:0002981	Abnormality of the calf	6662	SOX9	ORPHA:140
HP:0002981	Abnormality of the calf	6662	SOX9	OMIM:114290
HP:0002981	Abnormality of the calf	91754	NEK9	OMIM:617022
HP:0002981	Abnormality of the calf	3911	LAMA5	OMIM:620076
HP:0002981	Abnormality of the calf	64175	P3H1	OMIM:610915
HP:0002981	Abnormality of the calf	25885	POLR1A	OMIM:616462
HP:0002981	Abnormality of the calf	55603	TENT5A	OMIM:617952
HP:0002981	Abnormality of the calf	284086	NEK8	OMIM:615415
HP:0002981	Abnormality of the calf	92344	GORAB	OMIM:231070
HP:0002981	Abnormality of the calf	166929	SGMS2	OMIM:126550
HP:0002981	Abnormality of the calf	55151	TMEM38B	OMIM:615066
HP:0002981	Abnormality of the calf	8792	TNFRSF11A	OMIM:602080
HP:0002981	Abnormality of the calf	649	BMP1	OMIM:614856
HP:0002981	Abnormality of the calf	55112	DYNC2I1	OMIM:615503
HP:0002981	Abnormality of the calf	65250	CPLANE1	OMIM:277170
HP:0002981	Abnormality of the calf	23314	SATB2	ORPHA:251028
HP:0002981	Abnormality of the calf	5159	PDGFRB	OMIM:601812
HP:0002981	Abnormality of the calf	22858	CILK1	OMIM:612651
HP:0002981	Abnormality of the calf	64093	SMOC1	OMIM:206920
HP:0002981	Abnormality of the calf	64093	SMOC1	ORPHA:1106
HP:0002981	Abnormality of the calf	4041	LRP5	OMIM:259770
HP:0002981	Abnormality of the calf	388015	RTL1	ORPHA:96334
HP:0002981	Abnormality of the calf	8788	DLK1	ORPHA:96334
HP:0002981	Abnormality of the calf	55384	MEG3	ORPHA:96334
HP:0002981	Abnormality of the calf	8218	CLTCL1	ORPHA:453510
HP:0002981	Abnormality of the calf	1302	COL11A2	ORPHA:1427
HP:0002981	Abnormality of the calf	5116	PCNT	OMIM:210720
HP:0002981	Abnormality of the calf	26040	SETBP1	OMIM:269150
HP:0002981	Abnormality of the calf	26040	SETBP1	ORPHA:798
HP:0002981	Abnormality of the calf	139285	AMER1	OMIM:300373
HP:0002981	Abnormality of the calf	6913	TBX15	OMIM:260660
HP:0002981	Abnormality of the calf	538	ATP7A	ORPHA:198
HP:0002981	Abnormality of the calf	727857	BHLHA9	ORPHA:3329
HP:0002981	Abnormality of the calf	64327	LMBR1	ORPHA:988
HP:0002981	Abnormality of the calf	6469	SHH	ORPHA:988
HP:0002981	Abnormality of the calf	2131	EXT1	ORPHA:321
HP:0002981	Abnormality of the calf	2132	EXT2	ORPHA:321
HP:0002981	Abnormality of the calf	2317	FLNB	ORPHA:1190
HP:0002981	Abnormality of the calf	1280	COL2A1	ORPHA:85198
HP:0002981	Abnormality of the calf	1593	CYP27A1	ORPHA:909
HP:0002981	Abnormality of the calf	4010	LMX1B	ORPHA:2614
HP:0002981	Abnormality of the calf	7476	WNT7A	ORPHA:2879
HP:0002981	Abnormality of the calf	60	ACTB	ORPHA:64755
HP:0002981	Abnormality of the calf	8200	GDF5	ORPHA:2639
HP:0002981	Abnormality of the calf	658	BMPR1B	ORPHA:2639
HP:0002981	Abnormality of the calf	6916	TBXAS1	ORPHA:1802
HP:0002981	Abnormality of the calf	7040	TGFB1	ORPHA:1328
HP:0002981	Abnormality of the calf	3248	HPGD	ORPHA:1525
HP:0002981	Abnormality of the calf	6473	SHOX	ORPHA:240
HP:0002981	Abnormality of the calf	55636	CHD7	ORPHA:138
HP:0002981	Abnormality of the calf	9723	SEMA3E	ORPHA:138
HP:0002981	Abnormality of the calf	2535	FZD2	OMIM:164745
HP:0002981	Abnormality of the calf	153241	CEP120	OMIM:616300
HP:0002981	Abnormality of the calf	3899	AFF3	OMIM:619297
HP:0002981	Abnormality of the calf	55764	IFT122	OMIM:218330
HP:0002981	Abnormality of the calf	10262	SF3B4	ORPHA:1788
HP:0002981	Abnormality of the calf	27125	AFF4	ORPHA:444077
HP:0002981	Abnormality of the calf	9775	EIF4A3	OMIM:268305
HP:0002981	Abnormality of the calf	27152	INTU	OMIM:617925
HP:0002981	Abnormality of the calf	4233	MET	OMIM:607278
HP:0002981	Abnormality of the calf	2879	GPX4	ORPHA:93317
HP:0002981	Abnormality of the calf	2879	GPX4	OMIM:250220
HP:0002981	Abnormality of the calf	54187	NANS	OMIM:610442
HP:0002981	Abnormality of the calf	6399	TRAPPC2	ORPHA:93284
HP:0002981	Abnormality of the calf	4982	TNFRSF11B	OMIM:239000
HP:0002981	Abnormality of the calf	1317	SLC31A1	OMIM:620306
HP:0002981	Abnormality of the calf	7355	SLC35A2	ORPHA:356961
HP:0002981	Abnormality of the calf	4750	NEK1	ORPHA:2751
HP:0002981	Abnormality of the calf	79087	ALG12	OMIM:607143
HP:0002981	Abnormality of the calf	29980	DONSON	OMIM:251230
HP:0002981	Abnormality of the calf	57688	ZSWIM6	ORPHA:1827
HP:0002981	Abnormality of the calf	2737	GLI3	ORPHA:93322
HP:0002981	Abnormality of the calf	219844	HYLS1	OMIM:236680
HP:0002981	Abnormality of the calf	9131	AIFM1	OMIM:300232
HP:0002981	Abnormality of the calf	545	ATR	OMIM:210600
HP:0002981	Abnormality of the calf	25839	COG4	OMIM:618150
HP:0002981	Abnormality of the calf	7157	TP53	ORPHA:668
HP:0002981	Abnormality of the calf	5925	RB1	ORPHA:668
HP:0002981	Abnormality of the calf	11200	CHEK2	ORPHA:668
HP:0002981	Abnormality of the calf	5307	PITX1	OMIM:119800
HP:0002981	Abnormality of the calf	57003	CCDC47	OMIM:618268
HP:0002981	Abnormality of the calf	10082	GPC6	OMIM:258315
HP:0002981	Abnormality of the calf	3636	INPPL1	ORPHA:3144
HP:0002981	Abnormality of the calf	23169	SLC35D1	ORPHA:3144
HP:0002981	Abnormality of the calf	202018	TAPT1	OMIM:616897
HP:0002981	Abnormality of the calf	60676	PAPPA2	OMIM:619489
HP:0002981	Abnormality of the calf	2019	EN1	OMIM:619218
HP:0002981	Abnormality of the calf	6874	TAF4	OMIM:620450
HP:0002981	Abnormality of the calf	55315	SLC29A3	OMIM:602782
HP:0002981	Abnormality of the calf	1656	DDX6	OMIM:618653
HP:0002981	Abnormality of the calf	57479	PRR12	OMIM:619539
HP:0002981	Abnormality of the calf	6335	SCN9A	ORPHA:33069
HP:0002981	Abnormality of the calf	6335	SCN9A	ORPHA:36387
HP:0002981	Abnormality of the calf	6326	SCN2A	ORPHA:33069
HP:0002981	Abnormality of the calf	6326	SCN2A	ORPHA:36387
HP:0002981	Abnormality of the calf	2554	GABRA1	ORPHA:33069
HP:0002981	Abnormality of the calf	6323	SCN1A	ORPHA:33069
HP:0002981	Abnormality of the calf	6323	SCN1A	ORPHA:36387
HP:0002981	Abnormality of the calf	6324	SCN1B	ORPHA:33069
HP:0002981	Abnormality of the calf	6324	SCN1B	ORPHA:36387
HP:0002981	Abnormality of the calf	57526	PCDH19	ORPHA:33069
HP:0002981	Abnormality of the calf	2566	GABRG2	ORPHA:33069
HP:0002981	Abnormality of the calf	2566	GABRG2	ORPHA:36387
HP:0002981	Abnormality of the calf	112755	STX1B	ORPHA:36387
HP:0002981	Abnormality of the calf	2563	GABRD	ORPHA:36387
HP:0002981	Abnormality of the calf	112476	PRRT2	ORPHA:36387
HP:0002981	Abnormality of the calf	348980	HCN1	ORPHA:36387
HP:0002981	Abnormality of the calf	2258	FGF13	ORPHA:36387
HP:0002981	Abnormality of the calf	84059	ADGRV1	ORPHA:36387
HP:0002982	Tibial bowing	4322	MMP13	OMIM:602111
HP:0002982	Tibial bowing	4322	MMP13	ORPHA:93356
HP:0002982	Tibial bowing	2261	FGFR3	OMIM:616482
HP:0002982	Tibial bowing	2261	FGFR3	ORPHA:85165
HP:0002982	Tibial bowing	65250	CPLANE1	OMIM:277170
HP:0002982	Tibial bowing	1184	CLCN5	OMIM:300554
HP:0002982	Tibial bowing	1184	CLCN5	OMIM:300009
HP:0002982	Tibial bowing	142680	SLC34A3	OMIM:241530
HP:0002982	Tibial bowing	9158	FIBP	ORPHA:500095
HP:0002982	Tibial bowing	1594	CYP27B1	ORPHA:289157
HP:0002982	Tibial bowing	1594	CYP27B1	OMIM:264700
HP:0002982	Tibial bowing	120227	CYP2R1	ORPHA:289157
HP:0002982	Tibial bowing	120227	CYP2R1	OMIM:600081
HP:0002982	Tibial bowing	2335	FN1	ORPHA:93315
HP:0002982	Tibial bowing	1280	COL2A1	ORPHA:93315
HP:0002982	Tibial bowing	1280	COL2A1	OMIM:156550
HP:0002982	Tibial bowing	23314	SATB2	ORPHA:251028
HP:0002982	Tibial bowing	1277	COL1A1	OMIM:259420
HP:0002982	Tibial bowing	1277	COL1A1	OMIM:114000
HP:0002982	Tibial bowing	1277	COL1A1	OMIM:166210
HP:0002982	Tibial bowing	1278	COL1A2	OMIM:259420
HP:0002982	Tibial bowing	1278	COL1A2	OMIM:166210
HP:0002982	Tibial bowing	6473	SHOX	OMIM:127300
HP:0002982	Tibial bowing	6473	SHOX	ORPHA:314795
HP:0002982	Tibial bowing	6473	SHOX	ORPHA:240
HP:0002982	Tibial bowing	6662	SOX9	ORPHA:140
HP:0002982	Tibial bowing	6662	SOX9	OMIM:114290
HP:0002982	Tibial bowing	5159	PDGFRB	OMIM:601812
HP:0002982	Tibial bowing	22858	CILK1	OMIM:612651
HP:0002982	Tibial bowing	64093	SMOC1	OMIM:206920
HP:0002982	Tibial bowing	64093	SMOC1	ORPHA:1106
HP:0002982	Tibial bowing	4041	LRP5	OMIM:259770
HP:0002982	Tibial bowing	388015	RTL1	ORPHA:96334
HP:0002982	Tibial bowing	8788	DLK1	ORPHA:96334
HP:0002982	Tibial bowing	55384	MEG3	ORPHA:96334
HP:0002982	Tibial bowing	2316	FLNA	OMIM:304120
HP:0002982	Tibial bowing	2316	FLNA	OMIM:309350
HP:0002982	Tibial bowing	64175	P3H1	OMIM:610915
HP:0002982	Tibial bowing	54808	DYM	OMIM:223800
HP:0002982	Tibial bowing	5251	PHEX	OMIM:307800
HP:0002982	Tibial bowing	6023	RMRP	ORPHA:175
HP:0002982	Tibial bowing	1758	DMP1	ORPHA:289176
HP:0002982	Tibial bowing	5167	ENPP1	ORPHA:289176
HP:0002982	Tibial bowing	8218	CLTCL1	ORPHA:453510
HP:0002982	Tibial bowing	9469	CHST3	OMIM:143095
HP:0002982	Tibial bowing	92344	GORAB	OMIM:231070
HP:0002982	Tibial bowing	2317	FLNB	OMIM:108721
HP:0002982	Tibial bowing	2317	FLNB	OMIM:108720
HP:0002982	Tibial bowing	1302	COL11A2	ORPHA:1427
HP:0002982	Tibial bowing	3977	LIFR	OMIM:601559
HP:0002982	Tibial bowing	7421	VDR	OMIM:277440
HP:0002982	Tibial bowing	5116	PCNT	OMIM:210720
HP:0002982	Tibial bowing	5130	PCYT1A	OMIM:608940
HP:0002982	Tibial bowing	26040	SETBP1	OMIM:269150
HP:0002982	Tibial bowing	26040	SETBP1	ORPHA:798
HP:0002982	Tibial bowing	871	SERPINH1	OMIM:613848
HP:0002982	Tibial bowing	1300	COL10A1	OMIM:156500
HP:0002986	Radial bowing	2737	GLI3	ORPHA:672
HP:0002986	Radial bowing	4920	ROR2	OMIM:268310
HP:0002986	Radial bowing	4322	MMP13	OMIM:602111
HP:0002986	Radial bowing	1301	COL11A1	OMIM:154780
HP:0002986	Radial bowing	4882	NPR2	OMIM:602875
HP:0002986	Radial bowing	1280	COL2A1	OMIM:151210
HP:0002986	Radial bowing	7476	WNT7A	OMIM:228930
HP:0002986	Radial bowing	7476	WNT7A	ORPHA:2879
HP:0002986	Radial bowing	7476	WNT7A	OMIM:276820
HP:0002986	Radial bowing	8074	FGF23	OMIM:617993
HP:0002986	Radial bowing	8200	GDF5	OMIM:201250
HP:0002986	Radial bowing	2261	FGFR3	OMIM:100800
HP:0002986	Radial bowing	5593	PRKG2	OMIM:619636
HP:0002986	Radial bowing	2317	FLNB	OMIM:108721
HP:0002986	Radial bowing	2317	FLNB	OMIM:108720
HP:0002986	Radial bowing	59341	TRPV4	ORPHA:93314
HP:0002986	Radial bowing	6473	SHOX	OMIM:127300
HP:0002986	Radial bowing	6473	SHOX	ORPHA:240
HP:0002986	Radial bowing	6473	SHOX	OMIM:249700
HP:0002986	Radial bowing	91147	TMEM67	OMIM:602152
HP:0002986	Radial bowing	6910	TBX5	OMIM:142900
HP:0002986	Radial bowing	3549	IHH	OMIM:607778
HP:0002986	Radial bowing	567	B2M	OMIM:241600
HP:0002986	Radial bowing	112752	IFT43	OMIM:617866
HP:0002986	Radial bowing	1836	SLC26A2	ORPHA:93307
HP:0002986	Radial bowing	3930	LBR	OMIM:618019
HP:0002986	Radial bowing	5116	PCNT	OMIM:210720
HP:0002986	Radial bowing	2316	FLNA	OMIM:304120
HP:0002986	Radial bowing	3207	HOXA11	OMIM:605432
HP:0002986	Radial bowing	64175	P3H1	OMIM:610915
HP:0002986	Radial bowing	126792	B3GALT6	OMIM:271640
HP:0031095	Abnormal humerus morphology	9791	PTDSS1	OMIM:151050
HP:0031095	Abnormal humerus morphology	6913	TBX15	OMIM:260660
HP:0031095	Abnormal humerus morphology	6913	TBX15	ORPHA:93333
HP:0031095	Abnormal humerus morphology	5447	POR	OMIM:201750
HP:0031095	Abnormal humerus morphology	5447	POR	OMIM:207410
HP:0031095	Abnormal humerus morphology	5447	POR	ORPHA:95699
HP:0031095	Abnormal humerus morphology	9241	NOG	OMIM:186570
HP:0031095	Abnormal humerus morphology	2263	FGFR2	OMIM:101600
HP:0031095	Abnormal humerus morphology	2263	FGFR2	OMIM:207410
HP:0031095	Abnormal humerus morphology	2263	FGFR2	OMIM:101200
HP:0031095	Abnormal humerus morphology	2260	FGFR1	OMIM:101600
HP:0031095	Abnormal humerus morphology	7476	WNT7A	ORPHA:2879
HP:0031095	Abnormal humerus morphology	7476	WNT7A	OMIM:276820
HP:0031095	Abnormal humerus morphology	56603	CYP26B1	OMIM:614416
HP:0031095	Abnormal humerus morphology	2254	FGF9	OMIM:612961
HP:0031095	Abnormal humerus morphology	8200	GDF5	OMIM:610017
HP:0031095	Abnormal humerus morphology	29980	DONSON	OMIM:251230
HP:0031095	Abnormal humerus morphology	649	BMP1	OMIM:614856
HP:0031095	Abnormal humerus morphology	90993	CREB3L1	OMIM:616229
HP:0031095	Abnormal humerus morphology	1836	SLC26A2	OMIM:256050
HP:0031095	Abnormal humerus morphology	100151683	RNU4ATAC	OMIM:210710
HP:0031095	Abnormal humerus morphology	3930	LBR	OMIM:618019
HP:0031095	Abnormal humerus morphology	6678	SPARC	OMIM:616507
HP:0031095	Abnormal humerus morphology	9851	KIAA0753	OMIM:619479
HP:0031095	Abnormal humerus morphology	3911	LAMA5	OMIM:620076
HP:0031095	Abnormal humerus morphology	126792	B3GALT6	OMIM:609465
HP:0031095	Abnormal humerus morphology	340419	RSPO2	OMIM:618022
HP:0031095	Abnormal humerus morphology	538	ATP7A	ORPHA:198
HP:0031095	Abnormal humerus morphology	10847	SRCAP	ORPHA:2044
HP:0031095	Abnormal humerus morphology	26175	LYSET	OMIM:619345
HP:0031095	Abnormal humerus morphology	5593	PRKG2	OMIM:619636
HP:0031095	Abnormal humerus morphology	4796	TONSL	ORPHA:93357
HP:0031095	Abnormal humerus morphology	59341	TRPV4	ORPHA:93314
HP:0031095	Abnormal humerus morphology	2778	GNAS	ORPHA:94089
HP:0031095	Abnormal humerus morphology	8675	STX16	ORPHA:94089
HP:0031095	Abnormal humerus morphology	2146	EZH2	OMIM:277590
HP:0031095	Abnormal humerus morphology	54808	DYM	OMIM:223800
HP:0031095	Abnormal humerus morphology	2535	FZD2	OMIM:164745
HP:0031095	Abnormal humerus morphology	10082	GPC6	OMIM:258315
HP:0031095	Abnormal humerus morphology	10082	GPC6	ORPHA:93329
HP:0031095	Abnormal humerus morphology	9361	LONP1	OMIM:600373
HP:0031095	Abnormal humerus morphology	64327	LMBR1	OMIM:200500
HP:0031095	Abnormal humerus morphology	64327	LMBR1	ORPHA:931
HP:0031095	Abnormal humerus morphology	64841	GNPNAT1	OMIM:619598
HP:0031095	Abnormal humerus morphology	6628	SNRPB	OMIM:117650
HP:0031095	Abnormal humerus morphology	10588	MTHFS	OMIM:618367
HP:0031095	Abnormal humerus morphology	23483	TGDS	OMIM:616145
HP:0031095	Abnormal humerus morphology	11128	POLR3A	OMIM:264090
HP:0031095	Abnormal humerus morphology	11128	POLR3A	ORPHA:3455
HP:0031095	Abnormal humerus morphology	57167	SALL4	OMIM:607323
HP:0031095	Abnormal humerus morphology	57167	SALL4	ORPHA:959
HP:0031095	Abnormal humerus morphology	55764	IFT122	OMIM:218330
HP:0031095	Abnormal humerus morphology	79087	ALG12	OMIM:607143
HP:0031095	Abnormal humerus morphology	157570	ESCO2	OMIM:268300
HP:0031095	Abnormal humerus morphology	4982	TNFRSF11B	OMIM:239000
HP:0031095	Abnormal humerus morphology	114803	MYSM1	ORPHA:508542
HP:0031095	Abnormal humerus morphology	8540	AGPS	OMIM:600121
HP:0031095	Abnormal humerus morphology	9401	RECQL4	OMIM:218600
HP:0031095	Abnormal humerus morphology	8443	GNPAT	OMIM:222765
HP:0031095	Abnormal humerus morphology	7547	ZIC3	OMIM:314390
HP:0031095	Abnormal humerus morphology	2187	FANCB	OMIM:314390
HP:0031095	Abnormal humerus morphology	8802	SUCLG1	ORPHA:17
HP:0031095	Abnormal humerus morphology	2316	FLNA	OMIM:309350
HP:0031095	Abnormal humerus morphology	5830	PEX5	OMIM:616716
HP:0031095	Abnormal humerus morphology	79158	GNPTAB	OMIM:252500
HP:0031095	Abnormal humerus morphology	9939	RBM8A	ORPHA:3320
HP:0031095	Abnormal humerus morphology	9939	RBM8A	OMIM:274000
HP:0031095	Abnormal humerus morphology	145258	GSC	OMIM:602471
HP:0031095	Abnormal humerus morphology	2317	FLNB	ORPHA:56305
HP:0031095	Abnormal humerus morphology	2317	FLNB	ORPHA:1263
HP:0031095	Abnormal humerus morphology	6473	SHOX	ORPHA:240
HP:0031095	Abnormal humerus morphology	6910	TBX5	ORPHA:392
HP:0031095	Abnormal humerus morphology	9555	MACROH2A1	ORPHA:1275
HP:0031095	Abnormal humerus morphology	5307	PITX1	ORPHA:1275
HP:0031095	Abnormal humerus morphology	7040	TGFB1	ORPHA:1328
HP:0031095	Abnormal humerus morphology	6926	TBX3	ORPHA:3138
HP:0031095	Abnormal humerus morphology	3549	IHH	OMIM:607778
HP:0012010	EEG with frontal focal spike waves	23732	FRRS1L	ORPHA:725
HP:0012010	EEG with frontal focal spike waves	2903	GRIN2A	ORPHA:725
HP:0012012	EEG with parietal focal spike waves	57465	TBC1D24	ORPHA:163727
HP:0012014	EEG with central focal spikes	7030	TFE3	OMIM:301066
HP:0012014	EEG with central focal spikes	9289	ADGRG1	ORPHA:98889
HP:0012014	EEG with central focal spikes	5297	PI4KA	ORPHA:98889
HP:0012014	EEG with central focal spikes	27286	SRPX2	ORPHA:98889
HP:0012015	EEG with frontal focal spikes	2903	GRIN2A	ORPHA:98818
HP:0012015	EEG with frontal focal spikes	9289	ADGRG1	ORPHA:98889
HP:0012015	EEG with frontal focal spikes	5297	PI4KA	ORPHA:98889
HP:0012015	EEG with frontal focal spikes	27286	SRPX2	ORPHA:98889
HP:0012015	EEG with frontal focal spikes	6709	SPTAN1	OMIM:620540
HP:0012016	EEG with occipital focal spikes	7030	TFE3	OMIM:301066
HP:0012017	EEG with parietal focal spikes	7030	TFE3	OMIM:301066
HP:0012017	EEG with parietal focal spikes	9289	ADGRG1	ORPHA:98889
HP:0012017	EEG with parietal focal spikes	5297	PI4KA	ORPHA:98889
HP:0012017	EEG with parietal focal spikes	27286	SRPX2	ORPHA:98889
HP:0012018	EEG with temporal focal spikes	23229	ARHGEF9	ORPHA:163985
HP:0012018	EEG with temporal focal spikes	2782	GNB1	OMIM:616973
HP:0012018	EEG with temporal focal spikes	2903	GRIN2A	ORPHA:98818
HP:0012019	Lens luxation	1280	COL2A1	ORPHA:485
HP:0012019	Lens luxation	4337	MOCS1	OMIM:252150
HP:0012019	Lens luxation	1301	COL11A1	OMIM:154780
HP:0012019	Lens luxation	2200	FBN1	OMIM:608328
HP:0012019	Lens luxation	4338	MOCS2	OMIM:252160
HP:0012019	Lens luxation	113246	C12orf57	OMIM:218340
HP:0012019	Lens luxation	5076	PAX2	OMIM:120330
HP:0012019	Lens luxation	2776	GNAQ	ORPHA:3205
HP:0002990	Fibular aplasia	139285	AMER1	OMIM:300373
HP:0002990	Fibular aplasia	2317	FLNB	ORPHA:56305
HP:0002990	Fibular aplasia	2317	FLNB	OMIM:112310
HP:0002990	Fibular aplasia	2317	FLNB	OMIM:108720
HP:0002990	Fibular aplasia	64327	LMBR1	OMIM:200500
HP:0002990	Fibular aplasia	64327	LMBR1	ORPHA:931
HP:0002990	Fibular aplasia	8200	GDF5	OMIM:228900
HP:0002990	Fibular aplasia	6913	TBX15	OMIM:260660
HP:0002990	Fibular aplasia	65250	CPLANE1	OMIM:277170
HP:0002990	Fibular aplasia	7476	WNT7A	OMIM:228930
HP:0002990	Fibular aplasia	7476	WNT7A	ORPHA:2879
HP:0002990	Fibular aplasia	7476	WNT7A	OMIM:276820
HP:0002990	Fibular aplasia	9939	RBM8A	ORPHA:3320
HP:0002990	Fibular aplasia	9939	RBM8A	OMIM:274000
HP:0002990	Fibular aplasia	2316	FLNA	ORPHA:90652
HP:0002990	Fibular aplasia	658	BMPR1B	OMIM:609441
HP:0002991	Abnormal fibula morphology	139285	AMER1	OMIM:300373
HP:0002991	Abnormal fibula morphology	6913	TBX15	OMIM:260660
HP:0002991	Abnormal fibula morphology	65250	CPLANE1	OMIM:277170
HP:0002991	Abnormal fibula morphology	9939	RBM8A	ORPHA:3320
HP:0002991	Abnormal fibula morphology	9939	RBM8A	OMIM:274000
HP:0002991	Abnormal fibula morphology	2316	FLNA	ORPHA:90652
HP:0002991	Abnormal fibula morphology	538	ATP7A	ORPHA:198
HP:0002991	Abnormal fibula morphology	727857	BHLHA9	ORPHA:3329
HP:0002991	Abnormal fibula morphology	2263	FGFR2	ORPHA:1540
HP:0002991	Abnormal fibula morphology	64327	LMBR1	ORPHA:988
HP:0002991	Abnormal fibula morphology	6469	SHH	ORPHA:988
HP:0002991	Abnormal fibula morphology	2131	EXT1	ORPHA:321
HP:0002991	Abnormal fibula morphology	2132	EXT2	ORPHA:321
HP:0002991	Abnormal fibula morphology	2317	FLNB	ORPHA:1190
HP:0002991	Abnormal fibula morphology	1280	COL2A1	ORPHA:85198
HP:0002991	Abnormal fibula morphology	2535	FZD2	OMIM:164745
HP:0002991	Abnormal fibula morphology	79659	DYNC2H1	OMIM:613091
HP:0002991	Abnormal fibula morphology	153241	CEP120	OMIM:616300
HP:0002991	Abnormal fibula morphology	3899	AFF3	OMIM:619297
HP:0002991	Abnormal fibula morphology	55764	IFT122	OMIM:218330
HP:0002991	Abnormal fibula morphology	10262	SF3B4	ORPHA:1788
HP:0002991	Abnormal fibula morphology	64093	SMOC1	ORPHA:1106
HP:0002991	Abnormal fibula morphology	64093	SMOC1	OMIM:206920
HP:0002991	Abnormal fibula morphology	5745	PTH1R	ORPHA:79106
HP:0002991	Abnormal fibula morphology	5745	PTH1R	OMIM:600002
HP:0002991	Abnormal fibula morphology	27125	AFF4	ORPHA:444077
HP:0002991	Abnormal fibula morphology	6662	SOX9	ORPHA:140
HP:0002991	Abnormal fibula morphology	6662	SOX9	OMIM:114290
HP:0002991	Abnormal fibula morphology	9775	EIF4A3	OMIM:268305
HP:0002991	Abnormal fibula morphology	1301	COL11A1	OMIM:228520
HP:0002991	Abnormal fibula morphology	27152	INTU	OMIM:617925
HP:0002991	Abnormal fibula morphology	4233	MET	OMIM:607278
HP:0002991	Abnormal fibula morphology	2879	GPX4	ORPHA:93317
HP:0002991	Abnormal fibula morphology	2879	GPX4	OMIM:250220
HP:0002991	Abnormal fibula morphology	4921	DDR2	OMIM:271665
HP:0002991	Abnormal fibula morphology	54187	NANS	OMIM:610442
HP:0002991	Abnormal fibula morphology	633	BGN	OMIM:300106
HP:0002991	Abnormal fibula morphology	65992	DDRGK1	OMIM:602557
HP:0002991	Abnormal fibula morphology	65992	DDRGK1	ORPHA:93352
HP:0002991	Abnormal fibula morphology	3549	IHH	OMIM:607778
HP:0002991	Abnormal fibula morphology	124583	CANT1	OMIM:251450
HP:0002991	Abnormal fibula morphology	2737	GLI3	ORPHA:93322
HP:0002991	Abnormal fibula morphology	5447	POR	ORPHA:95699
HP:0002991	Abnormal fibula morphology	545	ATR	OMIM:210600
HP:0002991	Abnormal fibula morphology	25839	COG4	OMIM:618150
HP:0002991	Abnormal fibula morphology	8200	GDF5	ORPHA:2639
HP:0002991	Abnormal fibula morphology	658	BMPR1B	ORPHA:2639
HP:0002991	Abnormal fibula morphology	7476	WNT7A	OMIM:228930
HP:0002991	Abnormal fibula morphology	6473	SHOX	ORPHA:2632
HP:0002991	Abnormal fibula morphology	5251	PHEX	OMIM:307800
HP:0002991	Abnormal fibula morphology	57003	CCDC47	OMIM:618268
HP:0002991	Abnormal fibula morphology	1594	CYP27B1	OMIM:264700
HP:0002991	Abnormal fibula morphology	1184	CLCN5	OMIM:300554
HP:0002991	Abnormal fibula morphology	1184	CLCN5	OMIM:300009
HP:0002991	Abnormal fibula morphology	142680	SLC34A3	OMIM:241530
HP:0002991	Abnormal fibula morphology	7421	VDR	OMIM:277440
HP:0002991	Abnormal fibula morphology	2261	FGFR3	ORPHA:85165
HP:0002991	Abnormal fibula morphology	4853	NOTCH2	OMIM:102500
HP:0002991	Abnormal fibula morphology	22858	CILK1	OMIM:612651
HP:0002991	Abnormal fibula morphology	120227	CYP2R1	OMIM:600081
HP:0002991	Abnormal fibula morphology	871	SERPINH1	OMIM:613848
HP:0002991	Abnormal fibula morphology	1302	COL11A2	ORPHA:1427
HP:0002991	Abnormal fibula morphology	10082	GPC6	OMIM:258315
HP:0002991	Abnormal fibula morphology	3636	INPPL1	ORPHA:3144
HP:0002991	Abnormal fibula morphology	23169	SLC35D1	ORPHA:3144
HP:0002991	Abnormal fibula morphology	202018	TAPT1	OMIM:616897
HP:0002991	Abnormal fibula morphology	60676	PAPPA2	OMIM:619489
HP:0002991	Abnormal fibula morphology	10651	MTX2	OMIM:619127
HP:0002992	Abnormal tibia morphology	4322	MMP13	OMIM:602111
HP:0002992	Abnormal tibia morphology	4322	MMP13	ORPHA:93356
HP:0002992	Abnormal tibia morphology	2261	FGFR3	OMIM:616482
HP:0002992	Abnormal tibia morphology	2261	FGFR3	ORPHA:85165
HP:0002992	Abnormal tibia morphology	65250	CPLANE1	OMIM:277170
HP:0002992	Abnormal tibia morphology	1184	CLCN5	OMIM:300554
HP:0002992	Abnormal tibia morphology	1184	CLCN5	OMIM:300009
HP:0002992	Abnormal tibia morphology	142680	SLC34A3	OMIM:241530
HP:0002992	Abnormal tibia morphology	9158	FIBP	ORPHA:500095
HP:0002992	Abnormal tibia morphology	1594	CYP27B1	ORPHA:289157
HP:0002992	Abnormal tibia morphology	1594	CYP27B1	OMIM:264700
HP:0002992	Abnormal tibia morphology	120227	CYP2R1	ORPHA:289157
HP:0002992	Abnormal tibia morphology	120227	CYP2R1	OMIM:600081
HP:0002992	Abnormal tibia morphology	2335	FN1	ORPHA:93315
HP:0002992	Abnormal tibia morphology	1280	COL2A1	ORPHA:93315
HP:0002992	Abnormal tibia morphology	1280	COL2A1	OMIM:156550
HP:0002992	Abnormal tibia morphology	23314	SATB2	ORPHA:251028
HP:0002992	Abnormal tibia morphology	1277	COL1A1	OMIM:259420
HP:0002992	Abnormal tibia morphology	1277	COL1A1	OMIM:114000
HP:0002992	Abnormal tibia morphology	1277	COL1A1	OMIM:166210
HP:0002992	Abnormal tibia morphology	1278	COL1A2	OMIM:259420
HP:0002992	Abnormal tibia morphology	1278	COL1A2	OMIM:166210
HP:0002992	Abnormal tibia morphology	6662	SOX9	ORPHA:140
HP:0002992	Abnormal tibia morphology	6662	SOX9	OMIM:114290
HP:0002992	Abnormal tibia morphology	5159	PDGFRB	OMIM:601812
HP:0002992	Abnormal tibia morphology	22858	CILK1	OMIM:612651
HP:0002992	Abnormal tibia morphology	64093	SMOC1	OMIM:206920
HP:0002992	Abnormal tibia morphology	64093	SMOC1	ORPHA:1106
HP:0002992	Abnormal tibia morphology	4041	LRP5	OMIM:259770
HP:0002992	Abnormal tibia morphology	388015	RTL1	ORPHA:96334
HP:0002992	Abnormal tibia morphology	8788	DLK1	ORPHA:96334
HP:0002992	Abnormal tibia morphology	55384	MEG3	ORPHA:96334
HP:0002992	Abnormal tibia morphology	2316	FLNA	OMIM:304120
HP:0002992	Abnormal tibia morphology	2316	FLNA	OMIM:309350
HP:0002992	Abnormal tibia morphology	64175	P3H1	OMIM:610915
HP:0002992	Abnormal tibia morphology	54808	DYM	OMIM:223800
HP:0002992	Abnormal tibia morphology	5251	PHEX	OMIM:307800
HP:0002992	Abnormal tibia morphology	6023	RMRP	ORPHA:175
HP:0002992	Abnormal tibia morphology	1758	DMP1	ORPHA:289176
HP:0002992	Abnormal tibia morphology	5167	ENPP1	ORPHA:289176
HP:0002992	Abnormal tibia morphology	8218	CLTCL1	ORPHA:453510
HP:0002992	Abnormal tibia morphology	9469	CHST3	OMIM:143095
HP:0002992	Abnormal tibia morphology	92344	GORAB	OMIM:231070
HP:0002992	Abnormal tibia morphology	1302	COL11A2	ORPHA:1427
HP:0002992	Abnormal tibia morphology	3977	LIFR	OMIM:601559
HP:0002992	Abnormal tibia morphology	7421	VDR	OMIM:277440
HP:0002992	Abnormal tibia morphology	5116	PCNT	OMIM:210720
HP:0002992	Abnormal tibia morphology	5130	PCYT1A	OMIM:608940
HP:0002992	Abnormal tibia morphology	26040	SETBP1	OMIM:269150
HP:0002992	Abnormal tibia morphology	26040	SETBP1	ORPHA:798
HP:0002992	Abnormal tibia morphology	871	SERPINH1	OMIM:613848
HP:0002992	Abnormal tibia morphology	1593	CYP27A1	ORPHA:909
HP:0002992	Abnormal tibia morphology	4010	LMX1B	ORPHA:2614
HP:0002992	Abnormal tibia morphology	7476	WNT7A	ORPHA:2879
HP:0002992	Abnormal tibia morphology	60	ACTB	ORPHA:64755
HP:0002992	Abnormal tibia morphology	8200	GDF5	ORPHA:2639
HP:0002992	Abnormal tibia morphology	658	BMPR1B	ORPHA:2639
HP:0002992	Abnormal tibia morphology	2317	FLNB	ORPHA:1263
HP:0002992	Abnormal tibia morphology	6916	TBXAS1	ORPHA:1802
HP:0002992	Abnormal tibia morphology	7040	TGFB1	ORPHA:1328
HP:0002992	Abnormal tibia morphology	3248	HPGD	ORPHA:1525
HP:0002992	Abnormal tibia morphology	2131	EXT1	ORPHA:321
HP:0002992	Abnormal tibia morphology	2132	EXT2	ORPHA:321
HP:0002992	Abnormal tibia morphology	6473	SHOX	ORPHA:240
HP:0002992	Abnormal tibia morphology	4763	NF1	ORPHA:363700
HP:0002992	Abnormal tibia morphology	55636	CHD7	ORPHA:138
HP:0002992	Abnormal tibia morphology	9723	SEMA3E	ORPHA:138
HP:0002992	Abnormal tibia morphology	6399	TRAPPC2	ORPHA:93284
HP:0002992	Abnormal tibia morphology	153241	CEP120	OMIM:616300
HP:0002992	Abnormal tibia morphology	10082	GPC6	OMIM:258315
HP:0002992	Abnormal tibia morphology	1317	SLC31A1	OMIM:620306
HP:0002992	Abnormal tibia morphology	7355	SLC35A2	ORPHA:356961
HP:0002992	Abnormal tibia morphology	4750	NEK1	ORPHA:2751
HP:0002992	Abnormal tibia morphology	79087	ALG12	OMIM:607143
HP:0002992	Abnormal tibia morphology	3549	IHH	OMIM:607778
HP:0002992	Abnormal tibia morphology	9775	EIF4A3	OMIM:268305
HP:0002992	Abnormal tibia morphology	27152	INTU	OMIM:617925
HP:0002992	Abnormal tibia morphology	3911	LAMA5	OMIM:620076
HP:0002992	Abnormal tibia morphology	29980	DONSON	OMIM:251230
HP:0002992	Abnormal tibia morphology	2737	GLI3	ORPHA:93322
HP:0002992	Abnormal tibia morphology	727857	BHLHA9	ORPHA:3329
HP:0002992	Abnormal tibia morphology	727857	BHLHA9	ORPHA:1986
HP:0002992	Abnormal tibia morphology	57688	ZSWIM6	ORPHA:1827
HP:0002992	Abnormal tibia morphology	64327	LMBR1	ORPHA:988
HP:0002992	Abnormal tibia morphology	6469	SHH	ORPHA:988
HP:0002992	Abnormal tibia morphology	26123	TCTN3	ORPHA:2753
HP:0002992	Abnormal tibia morphology	5447	POR	ORPHA:95699
HP:0002992	Abnormal tibia morphology	219844	HYLS1	OMIM:236680
HP:0002992	Abnormal tibia morphology	1300	COL10A1	OMIM:156500
HP:0002992	Abnormal tibia morphology	9131	AIFM1	OMIM:300232
HP:0002992	Abnormal tibia morphology	1301	COL11A1	OMIM:154780
HP:0002992	Abnormal tibia morphology	7157	TP53	ORPHA:668
HP:0002992	Abnormal tibia morphology	5925	RB1	ORPHA:668
HP:0002992	Abnormal tibia morphology	11200	CHEK2	ORPHA:668
HP:0002992	Abnormal tibia morphology	9361	LONP1	OMIM:600373
HP:0002992	Abnormal tibia morphology	79659	DYNC2H1	OMIM:613091
HP:0002992	Abnormal tibia morphology	538	ATP7A	ORPHA:198
HP:0002992	Abnormal tibia morphology	5307	PITX1	OMIM:119800
HP:0002992	Abnormal tibia morphology	2019	EN1	OMIM:619218
HP:0002992	Abnormal tibia morphology	1299	COL9A3	OMIM:620022
HP:0002992	Abnormal tibia morphology	9675	TTI1	OMIM:620445
HP:0002992	Abnormal tibia morphology	6874	TAF4	OMIM:620450
HP:0002992	Abnormal tibia morphology	1836	SLC26A2	ORPHA:56304
HP:0002992	Abnormal tibia morphology	55315	SLC29A3	OMIM:602782
HP:0002992	Abnormal tibia morphology	1298	COL9A2	OMIM:600204
HP:0002992	Abnormal tibia morphology	1656	DDX6	OMIM:618653
HP:0002992	Abnormal tibia morphology	57479	PRR12	OMIM:619539
HP:0002992	Abnormal tibia morphology	9939	RBM8A	ORPHA:3320
HP:0002992	Abnormal tibia morphology	9939	RBM8A	OMIM:274000
HP:0002992	Abnormal tibia morphology	6335	SCN9A	ORPHA:33069
HP:0002992	Abnormal tibia morphology	6335	SCN9A	ORPHA:36387
HP:0002992	Abnormal tibia morphology	6326	SCN2A	ORPHA:33069
HP:0002992	Abnormal tibia morphology	6326	SCN2A	ORPHA:36387
HP:0002992	Abnormal tibia morphology	2554	GABRA1	ORPHA:33069
HP:0002992	Abnormal tibia morphology	6323	SCN1A	ORPHA:33069
HP:0002992	Abnormal tibia morphology	6323	SCN1A	ORPHA:36387
HP:0002992	Abnormal tibia morphology	6324	SCN1B	ORPHA:33069
HP:0002992	Abnormal tibia morphology	6324	SCN1B	ORPHA:36387
HP:0002992	Abnormal tibia morphology	57526	PCDH19	ORPHA:33069
HP:0002992	Abnormal tibia morphology	2566	GABRG2	ORPHA:33069
HP:0002992	Abnormal tibia morphology	2566	GABRG2	ORPHA:36387
HP:0002992	Abnormal tibia morphology	112755	STX1B	ORPHA:36387
HP:0002992	Abnormal tibia morphology	2563	GABRD	ORPHA:36387
HP:0002992	Abnormal tibia morphology	112476	PRRT2	ORPHA:36387
HP:0002992	Abnormal tibia morphology	348980	HCN1	ORPHA:36387
HP:0002992	Abnormal tibia morphology	2258	FGF13	ORPHA:36387
HP:0002992	Abnormal tibia morphology	84059	ADGRV1	ORPHA:36387
HP:0009829	Phocomelia	64327	LMBR1	ORPHA:931
HP:0009829	Phocomelia	157570	ESCO2	OMIM:268300
HP:0009829	Phocomelia	157570	ESCO2	ORPHA:3103
HP:0009829	Phocomelia	6910	TBX5	OMIM:142900
HP:0009829	Phocomelia	6910	TBX5	ORPHA:392
HP:0009829	Phocomelia	10262	SF3B4	ORPHA:245
HP:0009829	Phocomelia	25836	NIPBL	OMIM:122470
HP:0009829	Phocomelia	7476	WNT7A	OMIM:276820
HP:0009829	Phocomelia	9939	RBM8A	ORPHA:3320
HP:0009829	Phocomelia	9939	RBM8A	OMIM:274000
HP:0009829	Phocomelia	3930	LBR	OMIM:215140
HP:0002996	Limited elbow movement	1311	COMP	ORPHA:750
HP:0002996	Limited elbow movement	1311	COMP	OMIM:177170
HP:0002996	Limited elbow movement	4322	MMP13	OMIM:602111
HP:0002996	Limited elbow movement	4882	NPR2	OMIM:602875
HP:0002996	Limited elbow movement	10262	SF3B4	OMIM:154400
HP:0002996	Limited elbow movement	6424	SFRP4	OMIM:265900
HP:0002996	Limited elbow movement	85301	COL27A1	OMIM:615155
HP:0002996	Limited elbow movement	80207	OPA3	ORPHA:67036
HP:0002996	Limited elbow movement	4010	LMX1B	ORPHA:2614
HP:0002996	Limited elbow movement	4010	LMX1B	OMIM:161200
HP:0002996	Limited elbow movement	6023	RMRP	OMIM:250250
HP:0002996	Limited elbow movement	6023	RMRP	ORPHA:175
HP:0002996	Limited elbow movement	6023	RMRP	OMIM:607095
HP:0002996	Limited elbow movement	89970	RSPRY1	OMIM:616723
HP:0002996	Limited elbow movement	89970	RSPRY1	ORPHA:457395
HP:0002996	Limited elbow movement	90459	ERI1	OMIM:620663
HP:0002996	Limited elbow movement	10274	STAG1	ORPHA:502434
HP:0002996	Limited elbow movement	538	ATP7A	OMIM:304150
HP:0002996	Limited elbow movement	4796	TONSL	ORPHA:93357
HP:0002996	Limited elbow movement	4796	TONSL	OMIM:271510
HP:0002996	Limited elbow movement	10060	ABCC9	OMIM:619719
HP:0002996	Limited elbow movement	5447	POR	ORPHA:95699
HP:0002996	Limited elbow movement	4148	MATN3	OMIM:608728
HP:0002996	Limited elbow movement	4148	MATN3	ORPHA:156728
HP:0002996	Limited elbow movement	55869	HDAC8	OMIM:300882
HP:0002996	Limited elbow movement	100151683	RNU4ATAC	OMIM:226960
HP:0002996	Limited elbow movement	5594	MAPK1	OMIM:619087
HP:0002996	Limited elbow movement	54928	BPNT2	OMIM:614078
HP:0002996	Limited elbow movement	83737	ITCH	OMIM:613385
HP:0002996	Limited elbow movement	55790	CSGALNACT1	OMIM:618870
HP:0002996	Limited elbow movement	1299	COL9A3	OMIM:600969
HP:0002996	Limited elbow movement	2782	GNB1	OMIM:616973
HP:0002996	Limited elbow movement	2201	FBN2	OMIM:121050
HP:0002996	Limited elbow movement	23529	CLCF1	OMIM:610313
HP:0002996	Limited elbow movement	7030	TFE3	OMIM:301066
HP:0002996	Limited elbow movement	2200	FBN1	OMIM:154700
HP:0002996	Limited elbow movement	10082	GPC6	OMIM:258315
HP:0002996	Limited elbow movement	2261	FGFR3	OMIM:146000
HP:0002996	Limited elbow movement	2261	FGFR3	OMIM:100800
HP:0002996	Limited elbow movement	2261	FGFR3	ORPHA:15
HP:0002996	Limited elbow movement	25836	NIPBL	OMIM:122470
HP:0002996	Limited elbow movement	2146	EZH2	OMIM:277590
HP:0002996	Limited elbow movement	2317	FLNB	OMIM:272460
HP:0002996	Limited elbow movement	6910	TBX5	OMIM:142900
HP:0002996	Limited elbow movement	633	BGN	OMIM:300106
HP:0002996	Limited elbow movement	83452	RAB33B	OMIM:615222
HP:0002996	Limited elbow movement	6999	TDO2	OMIM:600627
HP:0002996	Limited elbow movement	55012	PPP2R3C	OMIM:618419
HP:0002996	Limited elbow movement	200734	SPRED2	OMIM:619745
HP:0002996	Limited elbow movement	3930	LBR	OMIM:618019
HP:0002996	Limited elbow movement	5116	PCNT	OMIM:210720
HP:0002996	Limited elbow movement	9244	CRLF1	OMIM:272430
HP:0002996	Limited elbow movement	6874	TAF4	OMIM:620450
HP:0002996	Limited elbow movement	157570	ESCO2	OMIM:216100
HP:0002996	Limited elbow movement	54808	DYM	ORPHA:239
HP:0002996	Limited elbow movement	11160	ERLIN2	ORPHA:280384
HP:0002996	Limited elbow movement	11160	ERLIN2	ORPHA:209951
HP:0002996	Limited elbow movement	4921	DDR2	OMIM:271665
HP:0002996	Limited elbow movement	4921	DDR2	OMIM:618175
HP:0002996	Limited elbow movement	57190	SELENON	ORPHA:97244
HP:0002996	Limited elbow movement	57190	SELENON	ORPHA:2020
HP:0002996	Limited elbow movement	58	ACTA1	ORPHA:97244
HP:0002996	Limited elbow movement	58	ACTA1	ORPHA:2020
HP:0002996	Limited elbow movement	83932	SPRTN	OMIM:616200
HP:0002996	Limited elbow movement	5352	PLOD2	OMIM:609220
HP:0002996	Limited elbow movement	1303	COL12A1	ORPHA:75840
HP:0002996	Limited elbow movement	1303	COL12A1	ORPHA:536516
HP:0002996	Limited elbow movement	1303	COL12A1	ORPHA:610
HP:0002996	Limited elbow movement	1291	COL6A1	ORPHA:75840
HP:0002996	Limited elbow movement	1291	COL6A1	ORPHA:610
HP:0002996	Limited elbow movement	1292	COL6A2	ORPHA:75840
HP:0002996	Limited elbow movement	1292	COL6A2	ORPHA:610
HP:0002996	Limited elbow movement	1293	COL6A3	ORPHA:75840
HP:0002996	Limited elbow movement	1293	COL6A3	ORPHA:610
HP:0002996	Limited elbow movement	6840	SVIL	OMIM:619040
HP:0002996	Limited elbow movement	1836	SLC26A2	ORPHA:56304
HP:0002996	Limited elbow movement	1836	SLC26A2	ORPHA:93307
HP:0002996	Limited elbow movement	55315	SLC29A3	OMIM:602782
HP:0002996	Limited elbow movement	825	CAPN3	ORPHA:267
HP:0002996	Limited elbow movement	91179	SCARF2	OMIM:600920
HP:0002996	Limited elbow movement	3714	JAG2	OMIM:619566
HP:0002996	Limited elbow movement	6536	SLC6A9	OMIM:617301
HP:0002996	Limited elbow movement	5831	PYCR1	OMIM:614438
HP:0002996	Limited elbow movement	4000	LMNA	OMIM:248370
HP:0002996	Limited elbow movement	4000	LMNA	OMIM:616516
HP:0002996	Limited elbow movement	4000	LMNA	ORPHA:98855
HP:0002996	Limited elbow movement	4000	LMNA	ORPHA:98853
HP:0002996	Limited elbow movement	2067	ERCC1	OMIM:610758
HP:0002996	Limited elbow movement	4621	MYH3	OMIM:193700
HP:0002996	Limited elbow movement	4621	MYH3	OMIM:178110
HP:0002996	Limited elbow movement	2010	EMD	OMIM:310300
HP:0002996	Limited elbow movement	2010	EMD	ORPHA:98863
HP:0002996	Limited elbow movement	5351	PLOD1	ORPHA:1900
HP:0002996	Limited elbow movement	7020	TFAP2A	OMIM:113620
HP:0002996	Limited elbow movement	6926	TBX3	OMIM:181450
HP:0002996	Limited elbow movement	4633	MYL2	ORPHA:2020
HP:0002996	Limited elbow movement	3679	ITGA7	ORPHA:2020
HP:0002996	Limited elbow movement	7169	TPM2	ORPHA:2020
HP:0002996	Limited elbow movement	7169	TPM2	OMIM:108120
HP:0002996	Limited elbow movement	9200	HACD1	ORPHA:2020
HP:0002996	Limited elbow movement	7170	TPM3	ORPHA:2020
HP:0002996	Limited elbow movement	51776	MAP3K20	ORPHA:2020
HP:0002996	Limited elbow movement	3977	LIFR	OMIM:601559
HP:0002996	Limited elbow movement	3977	LIFR	ORPHA:3206
HP:0002996	Limited elbow movement	127833	SYT2	OMIM:619461
HP:0002996	Limited elbow movement	54681	P4HTM	OMIM:618493
HP:0002996	Limited elbow movement	5277	PIGA	OMIM:300868
HP:0002996	Limited elbow movement	8985	PLOD3	OMIM:612394
HP:0002996	Limited elbow movement	545	ATR	OMIM:210600
HP:0002996	Limited elbow movement	3908	LAMA2	OMIM:618138
HP:0002996	Limited elbow movement	2783	GNB2	OMIM:619503
HP:0002996	Limited elbow movement	4632	MYL1	OMIM:618414
HP:0002996	Limited elbow movement	2074	ERCC6	OMIM:214150
HP:0002996	Limited elbow movement	9653	HS2ST1	OMIM:619194
HP:0002996	Limited elbow movement	9051	PSTPIP1	OMIM:604416
HP:0002996	Limited elbow movement	59341	TRPV4	OMIM:600175
HP:0002996	Limited elbow movement	59341	TRPV4	OMIM:184252
HP:0002996	Limited elbow movement	84065	TMEM222	OMIM:619470
HP:0002996	Limited elbow movement	3835	KIF22	ORPHA:93360
HP:0002996	Limited elbow movement	9791	PTDSS1	OMIM:151050
HP:0002996	Limited elbow movement	6628	SNRPB	OMIM:117650
HP:0002996	Limited elbow movement	29895	MYL11	OMIM:619110
HP:0002996	Limited elbow movement	340419	RSPO2	OMIM:618022
HP:0002996	Limited elbow movement	1861	TOR1A	OMIM:618947
HP:0002996	Limited elbow movement	259232	NALCN	ORPHA:371364
HP:0002996	Limited elbow movement	259232	NALCN	OMIM:616266
HP:0002996	Limited elbow movement	285175	UNC80	ORPHA:371364
HP:0002996	Limited elbow movement	84992	PIGY	OMIM:616809
HP:0002996	Limited elbow movement	2222	FDFT1	OMIM:618156
HP:0002996	Limited elbow movement	163175	LGI4	OMIM:617468
HP:0002996	Limited elbow movement	60681	FKBP10	OMIM:259450
HP:0002996	Limited elbow movement	2799	GNS	OMIM:252940
HP:0002996	Limited elbow movement	9215	LARGE1	OMIM:608840
HP:0002996	Limited elbow movement	1376	CPT2	OMIM:608836
HP:0002996	Limited elbow movement	342035	GLDN	OMIM:617194
HP:0002996	Limited elbow movement	339855	KY	OMIM:617114
HP:0002996	Limited elbow movement	5286	PIK3C2A	OMIM:618440
HP:0002996	Limited elbow movement	7317	UBA1	ORPHA:1145
HP:0002996	Limited elbow movement	23219	FBXO28	OMIM:619777
HP:0002996	Limited elbow movement	55681	SCYL2	ORPHA:1143
HP:0002996	Limited elbow movement	84570	COL25A1	ORPHA:1143
HP:0002996	Limited elbow movement	57222	ERGIC1	ORPHA:1143
HP:0002996	Limited elbow movement	6329	SCN4A	OMIM:620369
HP:0002996	Limited elbow movement	7476	WNT7A	OMIM:276820
HP:0002996	Limited elbow movement	64116	SLC39A8	ORPHA:468699
HP:0002996	Limited elbow movement	5832	ALDH18A1	ORPHA:447757
HP:0002996	Limited elbow movement	6913	TBX15	ORPHA:93333
HP:0002996	Limited elbow movement	9469	CHST3	OMIM:245600
HP:0002996	Limited elbow movement	26229	B3GAT3	OMIM:245600
HP:0002996	Limited elbow movement	91137	SLC25A46	OMIM:619303
HP:0002996	Limited elbow movement	2706	GJB2	OMIM:148210
HP:0002996	Limited elbow movement	5696	PSMB8	OMIM:256040
HP:0002996	Limited elbow movement	1756	DMD	ORPHA:206546
HP:0002996	Limited elbow movement	79188	TMEM43	ORPHA:98853
HP:0002996	Limited elbow movement	23345	SYNE1	ORPHA:98853
HP:0002996	Limited elbow movement	23224	SYNE2	ORPHA:98853
HP:0002996	Limited elbow movement	203859	ANO5	ORPHA:206549
HP:0002996	Limited elbow movement	2137	EXTL3	ORPHA:508533
HP:0002996	Limited elbow movement	8243	SMC1A	OMIM:300590
HP:0002996	Limited elbow movement	6399	TRAPPC2	ORPHA:93284
HP:0002996	Limited elbow movement	2316	FLNA	OMIM:305620
HP:0002996	Limited elbow movement	2316	FLNA	ORPHA:1826
HP:0002996	Limited elbow movement	145173	B3GLCT	OMIM:261540
HP:0002996	Limited elbow movement	57167	SALL4	OMIM:147750
HP:0002996	Limited elbow movement	8815	BANF1	OMIM:614008
HP:0002996	Limited elbow movement	1280	COL2A1	ORPHA:94068
HP:0002996	Limited elbow movement	1280	COL2A1	OMIM:183900
HP:0002996	Limited elbow movement	6885	MAP3K7	ORPHA:1826
HP:0002996	Limited elbow movement	6473	SHOX	OMIM:127300
HP:0002996	Limited elbow movement	8291	DYSF	ORPHA:268
HP:0002996	Limited elbow movement	9401	RECQL4	OMIM:218600
HP:0002996	Limited elbow movement	78989	COLEC11	OMIM:265050
HP:0002996	Limited elbow movement	5781	PTPN11	OMIM:151100
HP:0002996	Limited elbow movement	9427	ECEL1	OMIM:615065
HP:0002996	Limited elbow movement	27145	FILIP1	OMIM:620775
HP:0002996	Limited elbow movement	126792	B3GALT6	OMIM:615349
HP:0002996	Limited elbow movement	126792	B3GALT6	OMIM:271640
HP:0002996	Limited elbow movement	3265	HRAS	OMIM:218040
HP:0002996	Limited elbow movement	2273	FHL1	OMIM:300280
HP:0002996	Limited elbow movement	9126	SMC3	OMIM:610759
HP:0002996	Limited elbow movement	2263	FGFR2	OMIM:101200
HP:0002996	Limited elbow movement	4054	LTBP3	OMIM:617809
HP:0002996	Limited elbow movement	51305	KCNK9	ORPHA:166108
HP:0002996	Limited elbow movement	9968	MED12	ORPHA:93932
HP:0002996	Limited elbow movement	7474	WNT5A	OMIM:180700
HP:0002996	Limited elbow movement	1855	DVL1	OMIM:180700
HP:0002996	Limited elbow movement	5745	PTH1R	ORPHA:79106
HP:0002996	Limited elbow movement	9499	MYOT	ORPHA:266
HP:0002996	Limited elbow movement	2535	FZD2	OMIM:164745
HP:0002996	Limited elbow movement	4920	ROR2	OMIM:268310
HP:0002996	Limited elbow movement	4233	MET	OMIM:620019
HP:0002996	Limited elbow movement	4091	SMAD6	OMIM:179300
HP:0002996	Limited elbow movement	10584	COLEC10	ORPHA:293843
HP:0002996	Limited elbow movement	5648	MASP1	ORPHA:293843
HP:0002996	Limited elbow movement	2122	MECOM	OMIM:616738
HP:0002996	Limited elbow movement	3207	HOXA11	OMIM:605432
HP:0002996	Limited elbow movement	387733	IFITM5	OMIM:610967
HP:0002996	Limited elbow movement	6812	STXBP1	ORPHA:495818
HP:0002996	Limited elbow movement	171023	ASXL1	ORPHA:97297
HP:0040071	Abnormal morphology of ulna	7291	TWIST1	ORPHA:794
HP:0040071	Abnormal morphology of ulna	7291	TWIST1	OMIM:101400
HP:0040071	Abnormal morphology of ulna	2263	FGFR2	ORPHA:794
HP:0040071	Abnormal morphology of ulna	2263	FGFR2	OMIM:101400
HP:0040071	Abnormal morphology of ulna	2261	FGFR3	ORPHA:794
HP:0040071	Abnormal morphology of ulna	11285	B4GALT7	OMIM:130070
HP:0040071	Abnormal morphology of ulna	4091	SMAD6	OMIM:179300
HP:0040071	Abnormal morphology of ulna	10262	SF3B4	OMIM:154400
HP:0040071	Abnormal morphology of ulna	10262	SF3B4	ORPHA:1788
HP:0040071	Abnormal morphology of ulna	5447	POR	OMIM:201750
HP:0040071	Abnormal morphology of ulna	5447	POR	ORPHA:95699
HP:0040071	Abnormal morphology of ulna	6910	TBX5	ORPHA:392
HP:0040071	Abnormal morphology of ulna	6910	TBX5	OMIM:142900
HP:0040071	Abnormal morphology of ulna	57167	SALL4	OMIM:147750
HP:0040071	Abnormal morphology of ulna	57167	SALL4	ORPHA:2307
HP:0040071	Abnormal morphology of ulna	5648	MASP1	OMIM:257920
HP:0040071	Abnormal morphology of ulna	5648	MASP1	ORPHA:293843
HP:0040071	Abnormal morphology of ulna	6154	RPL26	OMIM:614900
HP:0040071	Abnormal morphology of ulna	6804	STX1A	ORPHA:904
HP:0040071	Abnormal morphology of ulna	7461	CLIP2	ORPHA:904
HP:0040071	Abnormal morphology of ulna	84277	DNAJC30	ORPHA:904
HP:0040071	Abnormal morphology of ulna	8468	FKBP6	ORPHA:904
HP:0040071	Abnormal morphology of ulna	5982	RFC2	ORPHA:904
HP:0040071	Abnormal morphology of ulna	2969	GTF2I	ORPHA:904
HP:0040071	Abnormal morphology of ulna	3984	LIMK1	ORPHA:904
HP:0040071	Abnormal morphology of ulna	9569	GTF2IRD1	ORPHA:904
HP:0040071	Abnormal morphology of ulna	155382	VPS37D	ORPHA:904
HP:0040071	Abnormal morphology of ulna	155368	METTL27	ORPHA:904
HP:0040071	Abnormal morphology of ulna	114049	BUD23	ORPHA:904
HP:0040071	Abnormal morphology of ulna	7458	EIF4H	ORPHA:904
HP:0040071	Abnormal morphology of ulna	84163	GTF2IRD2	ORPHA:904
HP:0040071	Abnormal morphology of ulna	26608	TBL2	ORPHA:904
HP:0040071	Abnormal morphology of ulna	653361	NCF1	ORPHA:904
HP:0040071	Abnormal morphology of ulna	135886	TMEM270	ORPHA:904
HP:0040071	Abnormal morphology of ulna	9031	BAZ1B	ORPHA:904
HP:0040071	Abnormal morphology of ulna	2006	ELN	ORPHA:904
HP:0040071	Abnormal morphology of ulna	2006	ELN	OMIM:194050
HP:0040071	Abnormal morphology of ulna	2122	MECOM	ORPHA:71289
HP:0040071	Abnormal morphology of ulna	2122	MECOM	OMIM:616738
HP:0040071	Abnormal morphology of ulna	3207	HOXA11	ORPHA:71289
HP:0040071	Abnormal morphology of ulna	157570	ESCO2	ORPHA:3103
HP:0040071	Abnormal morphology of ulna	157570	ESCO2	ORPHA:2319
HP:0040071	Abnormal morphology of ulna	78989	COLEC11	OMIM:265050
HP:0040071	Abnormal morphology of ulna	78989	COLEC11	ORPHA:293843
HP:0040071	Abnormal morphology of ulna	54880	BCOR	OMIM:300166
HP:0040071	Abnormal morphology of ulna	54880	BCOR	ORPHA:2712
HP:0040071	Abnormal morphology of ulna	4094	MAF	ORPHA:1272
HP:0040071	Abnormal morphology of ulna	4094	MAF	OMIM:601088
HP:0040071	Abnormal morphology of ulna	29998	BICRA	OMIM:619325
HP:0040071	Abnormal morphology of ulna	23522	KAT6B	ORPHA:85201
HP:0040071	Abnormal morphology of ulna	23522	KAT6B	OMIM:606170
HP:0040071	Abnormal morphology of ulna	1723	DHODH	OMIM:263750
HP:0040071	Abnormal morphology of ulna	51085	MLXIPL	OMIM:194050
HP:0040071	Abnormal morphology of ulna	4038	LRP4	ORPHA:3258
HP:0040071	Abnormal morphology of ulna	4038	LRP4	OMIM:212780
HP:0040071	Abnormal morphology of ulna	324	APC	ORPHA:3258
HP:0040071	Abnormal morphology of ulna	63895	PIEZO2	OMIM:248700
HP:0040071	Abnormal morphology of ulna	63895	PIEZO2	ORPHA:2461
HP:0040071	Abnormal morphology of ulna	126792	B3GALT6	ORPHA:536467
HP:0040071	Abnormal morphology of ulna	10584	COLEC10	OMIM:248340
HP:0040071	Abnormal morphology of ulna	10584	COLEC10	ORPHA:293843
HP:0040071	Abnormal morphology of ulna	50945	TBX22	OMIM:302905
HP:0040071	Abnormal morphology of ulna	50945	TBX22	ORPHA:921
HP:0040071	Abnormal morphology of ulna	22800	RRAS2	ORPHA:648
HP:0040071	Abnormal morphology of ulna	867	CBL	ORPHA:648
HP:0040071	Abnormal morphology of ulna	8216	LZTR1	ORPHA:648
HP:0040071	Abnormal morphology of ulna	6016	RIT1	ORPHA:648
HP:0040071	Abnormal morphology of ulna	6237	RRAS	ORPHA:648
HP:0040071	Abnormal morphology of ulna	5894	RAF1	ORPHA:648
HP:0040071	Abnormal morphology of ulna	22808	MRAS	ORPHA:648
HP:0040071	Abnormal morphology of ulna	200734	SPRED2	ORPHA:648
HP:0040071	Abnormal morphology of ulna	4893	NRAS	ORPHA:648
HP:0040071	Abnormal morphology of ulna	6654	SOS1	ORPHA:648
HP:0040071	Abnormal morphology of ulna	6655	SOS2	ORPHA:648
HP:0040071	Abnormal morphology of ulna	5781	PTPN11	ORPHA:648
HP:0040071	Abnormal morphology of ulna	5922	RASA2	ORPHA:648
HP:0040071	Abnormal morphology of ulna	22856	CHSY1	OMIM:605282
HP:0040071	Abnormal morphology of ulna	64131	XYLT1	ORPHA:1425
HP:0040071	Abnormal morphology of ulna	124583	CANT1	ORPHA:1425
HP:0040071	Abnormal morphology of ulna	55790	CSGALNACT1	ORPHA:1425
HP:0040071	Abnormal morphology of ulna	9469	CHST3	OMIM:245600
HP:0040071	Abnormal morphology of ulna	26229	B3GAT3	OMIM:245600
HP:0040071	Abnormal morphology of ulna	29980	DONSON	OMIM:617604
HP:0040071	Abnormal morphology of ulna	7468	NSD2	OMIM:194190
HP:0040071	Abnormal morphology of ulna	10815	CPLX1	OMIM:194190
HP:0040071	Abnormal morphology of ulna	1487	CTBP1	OMIM:194190
HP:0040071	Abnormal morphology of ulna	53834	FGFRL1	OMIM:194190
HP:0040071	Abnormal morphology of ulna	3954	LETM1	OMIM:194190
HP:0040071	Abnormal morphology of ulna	26040	SETBP1	ORPHA:798
HP:0040071	Abnormal morphology of ulna	79659	DYNC2H1	OMIM:613091
HP:0040071	Abnormal morphology of ulna	51604	PIGT	OMIM:615398
HP:0040071	Abnormal morphology of ulna	9820	CUL7	ORPHA:2616
HP:0040071	Abnormal morphology of ulna	23363	OBSL1	ORPHA:2616
HP:0040071	Abnormal morphology of ulna	83987	CCDC8	ORPHA:2616
HP:0040071	Abnormal morphology of ulna	145258	GSC	OMIM:602471
HP:0040071	Abnormal morphology of ulna	23233	EXOC6B	OMIM:618395
HP:0040071	Abnormal morphology of ulna	182	JAG1	OMIM:118450
HP:0040071	Abnormal morphology of ulna	3549	IHH	ORPHA:93388
HP:0040071	Abnormal morphology of ulna	3549	IHH	OMIM:607778
HP:0040071	Abnormal morphology of ulna	9241	NOG	OMIM:186500
HP:0040071	Abnormal morphology of ulna	567	B2M	OMIM:241600
HP:0040071	Abnormal morphology of ulna	55636	CHD7	OMIM:214800
HP:0040071	Abnormal morphology of ulna	9401	RECQL4	OMIM:218600
HP:0040071	Abnormal morphology of ulna	1301	COL11A1	OMIM:154780
HP:0040071	Abnormal morphology of ulna	57020	VPS35L	OMIM:619135
HP:0040071	Abnormal morphology of ulna	91179	SCARF2	OMIM:600920
HP:0040071	Abnormal morphology of ulna	54101	RIPK4	OMIM:263650
HP:0040071	Abnormal morphology of ulna	112752	IFT43	OMIM:617866
HP:0040071	Abnormal morphology of ulna	1836	SLC26A2	ORPHA:93307
HP:0040071	Abnormal morphology of ulna	5593	PRKG2	OMIM:619636
HP:0040071	Abnormal morphology of ulna	5116	PCNT	OMIM:210720
HP:0040071	Abnormal morphology of ulna	2316	FLNA	OMIM:304120
HP:0040071	Abnormal morphology of ulna	9939	RBM8A	OMIM:274000
HP:0040071	Abnormal morphology of ulna	3911	LAMA5	OMIM:620076
HP:0040071	Abnormal morphology of ulna	64327	LMBR1	OMIM:200500
HP:0040071	Abnormal morphology of ulna	64327	LMBR1	ORPHA:931
HP:0040071	Abnormal morphology of ulna	633	BGN	OMIM:300106
HP:0040071	Abnormal morphology of ulna	8792	TNFRSF11A	OMIM:602080
HP:0040071	Abnormal morphology of ulna	25782	RAB3GAP2	OMIM:212720
HP:0040071	Abnormal morphology of ulna	6638	SNRPN	ORPHA:177910
HP:0040071	Abnormal morphology of ulna	4692	NDN	ORPHA:177910
HP:0040071	Abnormal morphology of ulna	54551	MAGEL2	ORPHA:177910
HP:0040071	Abnormal morphology of ulna	1280	COL2A1	ORPHA:85198
HP:0040071	Abnormal morphology of ulna	64682	ANAPC1	ORPHA:221008
HP:0040071	Abnormal morphology of ulna	1311	COMP	OMIM:177170
HP:0040071	Abnormal morphology of ulna	1300	COL10A1	ORPHA:174
HP:0040071	Abnormal morphology of ulna	4920	ROR2	OMIM:268310
HP:0040071	Abnormal morphology of ulna	7476	WNT7A	OMIM:228930
HP:0040071	Abnormal morphology of ulna	727857	BHLHA9	ORPHA:3329
HP:0040071	Abnormal morphology of ulna	727857	BHLHA9	ORPHA:1986
HP:0040071	Abnormal morphology of ulna	6926	TBX3	ORPHA:3138
HP:0040071	Abnormal morphology of ulna	23476	BRD4	ORPHA:199
HP:0040071	Abnormal morphology of ulna	9126	SMC3	ORPHA:199
HP:0040071	Abnormal morphology of ulna	8243	SMC1A	ORPHA:199
HP:0040071	Abnormal morphology of ulna	6878	TAF6	ORPHA:199
HP:0040071	Abnormal morphology of ulna	25836	NIPBL	ORPHA:199
HP:0040071	Abnormal morphology of ulna	55869	HDAC8	ORPHA:199
HP:0040071	Abnormal morphology of ulna	5885	RAD21	ORPHA:199
HP:0040071	Abnormal morphology of ulna	5573	PRKAR1A	ORPHA:950
HP:0040071	Abnormal morphology of ulna	5144	PDE4D	ORPHA:950
HP:0040071	Abnormal morphology of ulna	5980	REV3L	ORPHA:570
HP:0040071	Abnormal morphology of ulna	23129	PLXND1	ORPHA:570
HP:0040071	Abnormal morphology of ulna	4318	MMP9	ORPHA:1040
HP:0040071	Abnormal morphology of ulna	4322	MMP13	ORPHA:1040
HP:0040071	Abnormal morphology of ulna	8200	GDF5	ORPHA:2639
HP:0040071	Abnormal morphology of ulna	658	BMPR1B	ORPHA:2639
HP:0040071	Abnormal morphology of ulna	2317	FLNB	ORPHA:1263
HP:0040071	Abnormal morphology of ulna	5604	MAP2K1	ORPHA:1340
HP:0040071	Abnormal morphology of ulna	5605	MAP2K2	ORPHA:1340
HP:0040071	Abnormal morphology of ulna	3845	KRAS	ORPHA:1340
HP:0040071	Abnormal morphology of ulna	673	BRAF	ORPHA:1340
HP:0040071	Abnormal morphology of ulna	672	BRCA1	ORPHA:84
HP:0040071	Abnormal morphology of ulna	10459	MAD2L2	ORPHA:84
HP:0040071	Abnormal morphology of ulna	7516	XRCC2	ORPHA:84
HP:0040071	Abnormal morphology of ulna	29089	UBE2T	ORPHA:84
HP:0040071	Abnormal morphology of ulna	675	BRCA2	ORPHA:84
HP:0040071	Abnormal morphology of ulna	55120	FANCL	ORPHA:84
HP:0040071	Abnormal morphology of ulna	2177	FANCD2	ORPHA:84
HP:0040071	Abnormal morphology of ulna	2175	FANCA	ORPHA:84
HP:0040071	Abnormal morphology of ulna	2187	FANCB	ORPHA:84
HP:0040071	Abnormal morphology of ulna	2176	FANCC	ORPHA:84
HP:0040071	Abnormal morphology of ulna	2178	FANCE	ORPHA:84
HP:0040071	Abnormal morphology of ulna	2188	FANCF	ORPHA:84
HP:0040071	Abnormal morphology of ulna	2189	FANCG	ORPHA:84
HP:0040071	Abnormal morphology of ulna	5888	RAD51	ORPHA:84
HP:0040071	Abnormal morphology of ulna	5889	RAD51C	ORPHA:84
HP:0040071	Abnormal morphology of ulna	55159	RFWD3	ORPHA:84
HP:0040071	Abnormal morphology of ulna	83990	BRIP1	ORPHA:84
HP:0040071	Abnormal morphology of ulna	57697	FANCM	ORPHA:84
HP:0040071	Abnormal morphology of ulna	79728	PALB2	ORPHA:84
HP:0040071	Abnormal morphology of ulna	84464	SLX4	ORPHA:84
HP:0040071	Abnormal morphology of ulna	2072	ERCC4	ORPHA:84
HP:0040071	Abnormal morphology of ulna	55215	FANCI	ORPHA:84
HP:0040071	Abnormal morphology of ulna	7040	TGFB1	ORPHA:1328
HP:0040071	Abnormal morphology of ulna	6473	SHOX	ORPHA:2632
HP:0040071	Abnormal morphology of ulna	6473	SHOX	ORPHA:240
HP:0040071	Abnormal morphology of ulna	2131	EXT1	ORPHA:321
HP:0040071	Abnormal morphology of ulna	2132	EXT2	ORPHA:321
HP:0040071	Abnormal morphology of ulna	9555	MACROH2A1	ORPHA:1275
HP:0040071	Abnormal morphology of ulna	5307	PITX1	ORPHA:1275
HP:0040071	Abnormal morphology of ulna	175	AGA	ORPHA:93
HP:0002999	Patellar dislocation	375	ARF1	ORPHA:98892
HP:0002999	Patellar dislocation	4131	MAP1B	ORPHA:98892
HP:0002999	Patellar dislocation	2316	FLNA	ORPHA:98892
HP:0002999	Patellar dislocation	23327	NEDD4L	ORPHA:98892
HP:0002999	Patellar dislocation	160418	TMTC3	ORPHA:98892
HP:0002999	Patellar dislocation	10564	ARFGEF2	ORPHA:98892
HP:0002999	Patellar dislocation	55780	ERMARD	ORPHA:98892
HP:0002999	Patellar dislocation	50515	CHST11	OMIM:618167
HP:0002999	Patellar dislocation	2033	EP300	OMIM:180849
HP:0002999	Patellar dislocation	2033	EP300	ORPHA:353284
HP:0002999	Patellar dislocation	1387	CREBBP	OMIM:180849
HP:0002999	Patellar dislocation	1387	CREBBP	ORPHA:353277
HP:0002999	Patellar dislocation	1387	CREBBP	ORPHA:353281
HP:0002999	Patellar dislocation	23522	KAT6B	OMIM:606170
HP:0002999	Patellar dislocation	23522	KAT6B	OMIM:603736
HP:0002999	Patellar dislocation	7528	YY1	OMIM:617557
HP:0002999	Patellar dislocation	4010	LMX1B	ORPHA:2614
HP:0002999	Patellar dislocation	4010	LMX1B	OMIM:161200
HP:0002999	Patellar dislocation	4010	LMX1B	ORPHA:495818
HP:0002999	Patellar dislocation	5290	PIK3CA	ORPHA:140944
HP:0002999	Patellar dislocation	91461	PKDCC	OMIM:618821
HP:0002999	Patellar dislocation	6804	STX1A	ORPHA:904
HP:0002999	Patellar dislocation	7461	CLIP2	ORPHA:904
HP:0002999	Patellar dislocation	84277	DNAJC30	ORPHA:904
HP:0002999	Patellar dislocation	8468	FKBP6	ORPHA:904
HP:0002999	Patellar dislocation	5982	RFC2	ORPHA:904
HP:0002999	Patellar dislocation	2969	GTF2I	ORPHA:904
HP:0002999	Patellar dislocation	3984	LIMK1	ORPHA:904
HP:0002999	Patellar dislocation	9569	GTF2IRD1	ORPHA:904
HP:0002999	Patellar dislocation	155382	VPS37D	ORPHA:904
HP:0002999	Patellar dislocation	155368	METTL27	ORPHA:904
HP:0002999	Patellar dislocation	114049	BUD23	ORPHA:904
HP:0002999	Patellar dislocation	7458	EIF4H	ORPHA:904
HP:0002999	Patellar dislocation	84163	GTF2IRD2	ORPHA:904
HP:0002999	Patellar dislocation	26608	TBL2	ORPHA:904
HP:0002999	Patellar dislocation	653361	NCF1	ORPHA:904
HP:0002999	Patellar dislocation	135886	TMEM270	ORPHA:904
HP:0002999	Patellar dislocation	9031	BAZ1B	ORPHA:904
HP:0002999	Patellar dislocation	2006	ELN	ORPHA:904
HP:0002999	Patellar dislocation	9496	TBX4	OMIM:147891
HP:0002999	Patellar dislocation	90459	ERI1	OMIM:620663
HP:0002999	Patellar dislocation	90459	ERI1	OMIM:620662
HP:0002999	Patellar dislocation	9939	RBM8A	ORPHA:3320
HP:0002999	Patellar dislocation	9939	RBM8A	OMIM:274000
HP:0002999	Patellar dislocation	100151683	RNU4ATAC	ORPHA:1824
HP:0002999	Patellar dislocation	8200	GDF5	ORPHA:968
HP:0002999	Patellar dislocation	8200	GDF5	OMIM:228900
HP:0002999	Patellar dislocation	5351	PLOD1	ORPHA:1900
HP:0002999	Patellar dislocation	1312	COMT	ORPHA:567
HP:0002999	Patellar dislocation	221037	JMJD1C	ORPHA:567
HP:0002999	Patellar dislocation	2812	GP1BB	ORPHA:567
HP:0002999	Patellar dislocation	6239	RREB1	ORPHA:567
HP:0002999	Patellar dislocation	6899	TBX1	ORPHA:567
HP:0002999	Patellar dislocation	6899	TBX1	OMIM:188400
HP:0002999	Patellar dislocation	7290	HIRA	ORPHA:567
HP:0002999	Patellar dislocation	9632	SEC24C	ORPHA:567
HP:0002999	Patellar dislocation	7353	UFD1	ORPHA:567
HP:0002999	Patellar dislocation	421	ARVCF	ORPHA:567
HP:0002999	Patellar dislocation	64131	XYLT1	ORPHA:1425
HP:0002999	Patellar dislocation	124583	CANT1	ORPHA:1425
HP:0002999	Patellar dislocation	55790	CSGALNACT1	ORPHA:1425
HP:0002999	Patellar dislocation	2317	FLNB	ORPHA:56305
HP:0002999	Patellar dislocation	10682	EBP	OMIM:302960
HP:0002999	Patellar dislocation	10682	EBP	ORPHA:35173
HP:0002999	Patellar dislocation	1277	COL1A1	ORPHA:287
HP:0002999	Patellar dislocation	1289	COL5A1	ORPHA:287
HP:0002999	Patellar dislocation	1290	COL5A2	ORPHA:287
HP:0002999	Patellar dislocation	1836	SLC26A2	OMIM:222600
HP:0002999	Patellar dislocation	65267	WNK3	OMIM:309610
HP:0002999	Patellar dislocation	54928	BPNT2	OMIM:614078
HP:0002999	Patellar dislocation	23233	EXOC6B	OMIM:618395
HP:0002999	Patellar dislocation	2535	FZD2	ORPHA:93328
HP:0002999	Patellar dislocation	6812	STXBP1	ORPHA:495818
HP:0002999	Patellar dislocation	2201	FBN2	OMIM:121050
HP:0002999	Patellar dislocation	4853	NOTCH2	ORPHA:955
HP:0002999	Patellar dislocation	4952	OCRL	ORPHA:534
HP:0002999	Patellar dislocation	10586	MAB21L2	OMIM:615877
HP:0002999	Patellar dislocation	6261	RYR1	ORPHA:178145
HP:0002999	Patellar dislocation	91179	SCARF2	OMIM:600920
HP:0002999	Patellar dislocation	63895	PIEZO2	OMIM:108145
HP:0002999	Patellar dislocation	5567	PRKACB	OMIM:619143
HP:0002999	Patellar dislocation	165	AEBP1	OMIM:618000
HP:0012020	Right aortic arch	78987	CRELD1	OMIM:606217
HP:0012020	Right aortic arch	54487	DGCR8	OMIM:192430
HP:0012020	Right aortic arch	8214	DGCR6	OMIM:192430
HP:0012020	Right aortic arch	8220	ESS2	OMIM:192430
HP:0012020	Right aortic arch	9993	DGCR2	OMIM:192430
HP:0012020	Right aortic arch	64220	STRA6	OMIM:601186
HP:0012020	Right aortic arch	7490	WT1	OMIM:608978
HP:0012020	Right aortic arch	6899	TBX1	ORPHA:3384
HP:0012020	Right aortic arch	137814	NKX2-6	ORPHA:3384
HP:0012020	Right aortic arch	23129	PLXND1	ORPHA:3384
HP:0012020	Right aortic arch	1770	DNAH9	OMIM:618300
HP:0012020	Right aortic arch	79989	IFT56	OMIM:619534
HP:0012020	Right aortic arch	2324	FLT4	OMIM:618780
HP:0012020	Right aortic arch	25981	DNAH1	OMIM:617577
HP:0012020	Right aortic arch	93	ACVR2B	OMIM:613751
HP:0012020	Right aortic arch	54916	TMEM260	OMIM:617478
HP:0012020	Right aortic arch	80232	WDR26	OMIM:617616
HP:0012020	Right aortic arch	80232	WDR26	ORPHA:513456
HP:0012020	Right aortic arch	93627	TBCK	OMIM:616900
HP:0012020	Right aortic arch	2657	GDF1	OMIM:613854
HP:0012020	Right aortic arch	10992	SF3B2	OMIM:164210
HP:0012020	Right aortic arch	79645	CLXN	OMIM:620642
HP:0012020	Right aortic arch	118856	MMP21	OMIM:616749
HP:0012020	Right aortic arch	9203	ZMYM3	OMIM:301111
HP:0012020	Right aortic arch	168507	PKD1L1	OMIM:617205
HP:0012020	Right aortic arch	220136	CFAP53	OMIM:614779
HP:0012020	Right aortic arch	55636	CHD7	OMIM:214800
HP:0012020	Right aortic arch	100128908	CIROP	OMIM:619702
HP:0012021	Persistent patent ductus venosus	6811	STX5	OMIM:620454
HP:0012023	Galactosuria	2584	GALK1	OMIM:230200
HP:0012023	Galactosuria	2592	GALT	OMIM:230400
HP:0012023	Galactosuria	9652	SKIC3	OMIM:222470
HP:0012023	Galactosuria	93986	FOXP2	ORPHA:251061
HP:0012023	Galactosuria	2582	GALE	OMIM:230350
HP:0012024	Hypergalactosemia	2584	GALK1	OMIM:230200
HP:0012024	Hypergalactosemia	2584	GALK1	ORPHA:79237
HP:0012024	Hypergalactosemia	130589	GALM	ORPHA:570422
HP:0012024	Hypergalactosemia	130589	GALM	OMIM:618881
HP:0012024	Hypergalactosemia	2592	GALT	OMIM:230400
HP:0012024	Hypergalactosemia	10165	SLC25A13	ORPHA:247598
HP:0012024	Hypergalactosemia	2582	GALE	OMIM:620776
HP:0012024	Hypergalactosemia	2582	GALE	OMIM:230350
HP:0012024	Hypergalactosemia	6514	SLC2A2	OMIM:227810
HP:0012024	Hypergalactosemia	9652	SKIC3	OMIM:222470
HP:0012025	Abnormal circulating ornithine concentration	4942	OAT	OMIM:258870
HP:0012025	Abnormal circulating ornithine concentration	4942	OAT	ORPHA:414
HP:0012025	Abnormal circulating ornithine concentration	10166	SLC25A15	ORPHA:415
HP:0012025	Abnormal circulating ornithine concentration	10166	SLC25A15	OMIM:238970
HP:0012025	Abnormal circulating ornithine concentration	10157	AASS	ORPHA:2203
HP:0012025	Abnormal circulating ornithine concentration	10157	AASS	OMIM:238700
HP:0012025	Abnormal circulating ornithine concentration	763	CA5A	OMIM:615751
HP:0012025	Abnormal circulating ornithine concentration	5832	ALDH18A1	OMIM:219150
HP:0012026	Hyperornithinemia	4942	OAT	OMIM:258870
HP:0012026	Hyperornithinemia	4942	OAT	ORPHA:414
HP:0012026	Hyperornithinemia	10166	SLC25A15	ORPHA:415
HP:0012026	Hyperornithinemia	10166	SLC25A15	OMIM:238970
HP:0012027	Laryngeal edema	7512	XPNPEP2	ORPHA:100057
HP:0012027	Laryngeal edema	5340	PLG	OMIM:619360
HP:0012027	Laryngeal edema	710	SERPING1	ORPHA:100050
HP:0012027	Laryngeal edema	710	SERPING1	OMIM:106100
HP:0012027	Laryngeal edema	64711	HS3ST6	OMIM:619367
HP:0012027	Laryngeal edema	2050	EPHB4	ORPHA:90186
HP:0012028	Hepatocellular adenoma	3767	KCNJ11	ORPHA:552
HP:0012028	Hepatocellular adenoma	8462	KLF11	ORPHA:552
HP:0012028	Hepatocellular adenoma	2645	GCK	ORPHA:552
HP:0012028	Hepatocellular adenoma	26060	APPL1	ORPHA:552
HP:0012028	Hepatocellular adenoma	640	BLK	ORPHA:552
HP:0012028	Hepatocellular adenoma	1056	CEL	ORPHA:552
HP:0012028	Hepatocellular adenoma	4760	NEUROD1	ORPHA:552
HP:0012028	Hepatocellular adenoma	3651	PDX1	ORPHA:552
HP:0012028	Hepatocellular adenoma	6833	ABCC8	ORPHA:552
HP:0012028	Hepatocellular adenoma	5078	PAX4	ORPHA:552
HP:0012028	Hepatocellular adenoma	3172	HNF4A	ORPHA:552
HP:0012028	Hepatocellular adenoma	6927	HNF1A	ORPHA:552
HP:0012028	Hepatocellular adenoma	6927	HNF1A	OMIM:142330
HP:0012028	Hepatocellular adenoma	3630	INS	ORPHA:552
HP:0012028	Hepatocellular adenoma	2778	GNAS	ORPHA:562
HP:0012028	Hepatocellular adenoma	5257	PHKB	ORPHA:79240
HP:0012028	Hepatocellular adenoma	2542	SLC37A4	ORPHA:79259
HP:0012028	Hepatocellular adenoma	7543	ZFX	OMIM:301118
HP:0012028	Hepatocellular adenoma	5256	PHKA2	ORPHA:264580
HP:0012028	Hepatocellular adenoma	5261	PHKG2	ORPHA:264580
HP:0012029	Abnormal urine hormone level	79798	ARMC5	ORPHA:189427
HP:0012029	Abnormal urine hormone level	79798	ARMC5	OMIM:615954
HP:0012029	Abnormal urine hormone level	23028	KDM1A	ORPHA:189427
HP:0012029	Abnormal urine hormone level	2778	GNAS	ORPHA:189427
HP:0012029	Abnormal urine hormone level	84196	USP48	ORPHA:96253
HP:0012029	Abnormal urine hormone level	7157	TP53	ORPHA:96253
HP:0012029	Abnormal urine hormone level	7157	TP53	ORPHA:1501
HP:0012029	Abnormal urine hormone level	9101	USP8	ORPHA:96253
HP:0012029	Abnormal urine hormone level	64072	CDH23	ORPHA:96253
HP:0012029	Abnormal urine hormone level	2908	NR3C1	ORPHA:96253
HP:0012029	Abnormal urine hormone level	2908	NR3C1	ORPHA:786
HP:0012029	Abnormal urine hormone level	673	BRAF	ORPHA:96253
HP:0012029	Abnormal urine hormone level	546	ATRX	ORPHA:96253
HP:0012029	Abnormal urine hormone level	5573	PRKAR1A	OMIM:610489
HP:0012029	Abnormal urine hormone level	5573	PRKAR1A	ORPHA:1501
HP:0012029	Abnormal urine hormone level	1027	CDKN1B	ORPHA:276152
HP:0012029	Abnormal urine hormone level	84133	ZNRF3	ORPHA:1501
HP:0012029	Abnormal urine hormone level	1499	CTNNB1	ORPHA:1501
HP:0012029	Abnormal urine hormone level	1029	CDKN2A	ORPHA:1501
HP:0012029	Abnormal urine hormone level	7015	TERT	ORPHA:1501
HP:0012029	Abnormal urine hormone level	1586	CYP17A1	ORPHA:90793
HP:0012029	Abnormal urine hormone level	1584	CYP11B1	ORPHA:90795
HP:0012029	Abnormal urine hormone level	3290	HSD11B1	OMIM:614662
HP:4000148	Hepatic artery hyperplasia	10112	KIF20A	OMIM:619433
HP:4000147	Abnormal hepatic artery morphology	10112	KIF20A	OMIM:619433
HP:4000141	Left ventricular dilatation	3032	HADHB	OMIM:620300
HP:0012030	Increased urinary cortisol level	79798	ARMC5	ORPHA:189427
HP:0012030	Increased urinary cortisol level	79798	ARMC5	OMIM:615954
HP:0012030	Increased urinary cortisol level	23028	KDM1A	ORPHA:189427
HP:0012030	Increased urinary cortisol level	2778	GNAS	ORPHA:189427
HP:0012030	Increased urinary cortisol level	84196	USP48	ORPHA:96253
HP:0012030	Increased urinary cortisol level	7157	TP53	ORPHA:96253
HP:0012030	Increased urinary cortisol level	7157	TP53	ORPHA:1501
HP:0012030	Increased urinary cortisol level	9101	USP8	ORPHA:96253
HP:0012030	Increased urinary cortisol level	64072	CDH23	ORPHA:96253
HP:0012030	Increased urinary cortisol level	2908	NR3C1	ORPHA:96253
HP:0012030	Increased urinary cortisol level	2908	NR3C1	ORPHA:786
HP:0012030	Increased urinary cortisol level	673	BRAF	ORPHA:96253
HP:0012030	Increased urinary cortisol level	546	ATRX	ORPHA:96253
HP:0012030	Increased urinary cortisol level	5573	PRKAR1A	OMIM:610489
HP:0012030	Increased urinary cortisol level	5573	PRKAR1A	ORPHA:1501
HP:0012030	Increased urinary cortisol level	1027	CDKN1B	ORPHA:276152
HP:0012030	Increased urinary cortisol level	84133	ZNRF3	ORPHA:1501
HP:0012030	Increased urinary cortisol level	1499	CTNNB1	ORPHA:1501
HP:0012030	Increased urinary cortisol level	1029	CDKN2A	ORPHA:1501
HP:0012030	Increased urinary cortisol level	7015	TERT	ORPHA:1501
HP:0012031	Lipomatous tumor	4558	MT-TF	ORPHA:551
HP:0012031	Lipomatous tumor	4567	MT-TL1	ORPHA:551
HP:0012031	Lipomatous tumor	4549	MT-RNR1	ORPHA:551
HP:0012031	Lipomatous tumor	4574	MT-TS1	ORPHA:551
HP:0012031	Lipomatous tumor	4575	MT-TS2	ORPHA:551
HP:0012031	Lipomatous tumor	4571	MT-TP	ORPHA:551
HP:0012031	Lipomatous tumor	4572	MT-TQ	ORPHA:551
HP:0012031	Lipomatous tumor	4540	MT-ND5	ORPHA:551
HP:0012031	Lipomatous tumor	4566	MT-TK	ORPHA:551
HP:0012031	Lipomatous tumor	4566	MT-TK	ORPHA:1349
HP:0012031	Lipomatous tumor	4564	MT-TH	ORPHA:551
HP:0012031	Lipomatous tumor	5290	PIK3CA	ORPHA:276280
HP:0012031	Lipomatous tumor	4221	MEN1	ORPHA:652
HP:0012031	Lipomatous tumor	1027	CDKN1B	ORPHA:652
HP:0012031	Lipomatous tumor	1026	CDKN1A	ORPHA:652
HP:0012031	Lipomatous tumor	1030	CDKN2B	ORPHA:652
HP:0012031	Lipomatous tumor	1031	CDKN2C	ORPHA:652
HP:0012031	Lipomatous tumor	55154	MSTO1	OMIM:617675
HP:0012031	Lipomatous tumor	161742	SPRED1	OMIM:611431
HP:0012031	Lipomatous tumor	161742	SPRED1	ORPHA:137605
HP:0012031	Lipomatous tumor	9927	MFN2	OMIM:151800
HP:0012031	Lipomatous tumor	9927	MFN2	ORPHA:2398
HP:0012031	Lipomatous tumor	2260	FGFR1	ORPHA:2396
HP:0012031	Lipomatous tumor	3845	KRAS	ORPHA:2396
HP:0012031	Lipomatous tumor	324	APC	OMIM:175100
HP:0012031	Lipomatous tumor	6347	CCL2	OMIM:182940
HP:0012031	Lipomatous tumor	81839	VANGL1	OMIM:182940
HP:0012031	Lipomatous tumor	80199	FUZ	OMIM:182940
HP:0012031	Lipomatous tumor	6862	TBXT	OMIM:182940
HP:0012031	Lipomatous tumor	57216	VANGL2	OMIM:182940
HP:0012031	Lipomatous tumor	56980	PRDM10	ORPHA:122
HP:0012031	Lipomatous tumor	56980	PRDM10	OMIM:620459
HP:0012031	Lipomatous tumor	201163	FLCN	ORPHA:122
HP:0012031	Lipomatous tumor	201163	FLCN	OMIM:135150
HP:0012031	Lipomatous tumor	284252	KCTD1	OMIM:181270
HP:0012031	Lipomatous tumor	1175	AP2S1	OMIM:600740
HP:0012031	Lipomatous tumor	5728	PTEN	ORPHA:210548
HP:0012031	Lipomatous tumor	220296	HEPACAM	ORPHA:210548
HP:0012031	Lipomatous tumor	207	AKT1	OMIM:176920
HP:0012031	Lipomatous tumor	2767	GNA11	OMIM:145981
HP:0012031	Lipomatous tumor	5167	ENPP1	ORPHA:758
HP:0012031	Lipomatous tumor	368	ABCC6	ORPHA:758
HP:0012031	Lipomatous tumor	23592	LEMD3	ORPHA:1879
HP:0012031	Lipomatous tumor	657	BMPR1A	ORPHA:79076
HP:0012031	Lipomatous tumor	57688	ZSWIM6	ORPHA:1827
HP:0012031	Lipomatous tumor	57688	ZSWIM6	OMIM:603671
HP:0012031	Lipomatous tumor	8092	ALX1	ORPHA:306542
HP:0012031	Lipomatous tumor	257	ALX3	OMIM:136760
HP:0012031	Lipomatous tumor	4763	NF1	OMIM:162200
HP:0012031	Lipomatous tumor	79577	CDC73	ORPHA:99880
HP:0012031	Lipomatous tumor	79577	CDC73	ORPHA:143
HP:0012031	Lipomatous tumor	6134	RPL10	ORPHA:459070
HP:0012031	Lipomatous tumor	8379	MAD1L1	OMIM:620189
HP:0012031	Lipomatous tumor	10483	SEC23B	ORPHA:201
HP:0012031	Lipomatous tumor	6390	SDHB	ORPHA:201
HP:0012031	Lipomatous tumor	6392	SDHD	ORPHA:201
HP:0012031	Lipomatous tumor	6391	SDHC	ORPHA:201
HP:0012031	Lipomatous tumor	205717	USF3	ORPHA:201
HP:0012031	Lipomatous tumor	100144748	KLLN	ORPHA:201
HP:0012031	Lipomatous tumor	6872	TAF1	ORPHA:480907
HP:0012031	Lipomatous tumor	4771	NF2	ORPHA:93921
HP:0012031	Lipomatous tumor	6598	SMARCB1	ORPHA:93921
HP:0012031	Lipomatous tumor	51004	COQ6	ORPHA:93921
HP:0012031	Lipomatous tumor	8216	LZTR1	ORPHA:93921
HP:0012031	Lipomatous tumor	3110	MNX1	ORPHA:1552
HP:0012031	Lipomatous tumor	55262	TRAPPC14	OMIM:618351
HP:0012032	Lipoma	257	ALX3	OMIM:136760
HP:0012032	Lipoma	5290	PIK3CA	OMIM:612918
HP:0012032	Lipoma	5290	PIK3CA	ORPHA:314662
HP:0012032	Lipoma	5290	PIK3CA	ORPHA:201
HP:0012032	Lipoma	4763	NF1	OMIM:162200
HP:0012032	Lipoma	79577	CDC73	ORPHA:99880
HP:0012032	Lipoma	79577	CDC73	ORPHA:143
HP:0012032	Lipoma	5728	PTEN	ORPHA:109
HP:0012032	Lipoma	5728	PTEN	ORPHA:201
HP:0012032	Lipoma	324	APC	ORPHA:247806
HP:0012032	Lipoma	324	APC	ORPHA:79665
HP:0012032	Lipoma	6134	RPL10	ORPHA:459070
HP:0012032	Lipoma	6347	CCL2	OMIM:182940
HP:0012032	Lipoma	81839	VANGL1	OMIM:182940
HP:0012032	Lipoma	80199	FUZ	OMIM:182940
HP:0012032	Lipoma	6862	TBXT	OMIM:182940
HP:0012032	Lipoma	57216	VANGL2	OMIM:182940
HP:0012032	Lipoma	8379	MAD1L1	OMIM:620189
HP:0012032	Lipoma	207	AKT1	ORPHA:744
HP:0012032	Lipoma	207	AKT1	ORPHA:201
HP:0012032	Lipoma	207	AKT1	OMIM:176920
HP:0012032	Lipoma	10483	SEC23B	ORPHA:201
HP:0012032	Lipoma	6390	SDHB	ORPHA:201
HP:0012032	Lipoma	6392	SDHD	ORPHA:201
HP:0012032	Lipoma	6391	SDHC	ORPHA:201
HP:0012032	Lipoma	205717	USF3	ORPHA:201
HP:0012032	Lipoma	100144748	KLLN	ORPHA:201
HP:0012032	Lipoma	6872	TAF1	ORPHA:480907
HP:0012032	Lipoma	2260	FGFR1	OMIM:613001
HP:0012032	Lipoma	4771	NF2	ORPHA:93921
HP:0012032	Lipoma	6598	SMARCB1	ORPHA:93921
HP:0012032	Lipoma	51004	COQ6	ORPHA:93921
HP:0012032	Lipoma	8216	LZTR1	ORPHA:93921
HP:0012032	Lipoma	55154	MSTO1	ORPHA:502423
HP:0012032	Lipoma	3110	MNX1	ORPHA:1552
HP:0012032	Lipoma	55262	TRAPPC14	OMIM:618351
HP:0012033	Sacral lipoma	81839	VANGL1	OMIM:600145
HP:0012033	Sacral lipoma	3110	MNX1	ORPHA:1552
HP:0012033	Sacral lipoma	6134	RPL10	ORPHA:435938
HP:0012035	Steatocystoma multiplex	3872	KRT17	OMIM:184500
HP:0012035	Steatocystoma multiplex	3872	KRT17	OMIM:167210
HP:0012035	Steatocystoma multiplex	3872	KRT17	ORPHA:2309
HP:0012035	Steatocystoma multiplex	3872	KRT17	ORPHA:841
HP:0012035	Steatocystoma multiplex	3854	KRT6B	OMIM:615728
HP:0012035	Steatocystoma multiplex	3854	KRT6B	ORPHA:2309
HP:0012035	Steatocystoma multiplex	3868	KRT16	ORPHA:2309
HP:0012035	Steatocystoma multiplex	3853	KRT6A	ORPHA:2309
HP:0012036	Sternocleidomastoid amyotrophy	7555	CNBP	OMIM:602668
HP:0012036	Sternocleidomastoid amyotrophy	4703	NEB	ORPHA:399103
HP:0012036	Sternocleidomastoid amyotrophy	4703	NEB	OMIM:256030
HP:0012036	Sternocleidomastoid amyotrophy	6261	RYR1	ORPHA:98905
HP:0012036	Sternocleidomastoid amyotrophy	4556	MT-TE	ORPHA:2596
HP:0012037	Pectoralis amyotrophy	825	CAPN3	ORPHA:267
HP:0012037	Pectoralis amyotrophy	22947	DUX4L1	ORPHA:269
HP:0012037	Pectoralis amyotrophy	1789	DNMT3B	ORPHA:269
HP:0012037	Pectoralis amyotrophy	2483	FRG1	ORPHA:269
HP:0012037	Pectoralis amyotrophy	23347	SMCHD1	ORPHA:269
HP:0012037	Pectoralis amyotrophy	100288687	DUX4	ORPHA:269
HP:0012038	Corneal guttata	6935	ZEB1	OMIM:609141
HP:0012038	Corneal guttata	6935	ZEB1	OMIM:613270
HP:0012038	Corneal guttata	123624	AGBL1	OMIM:615523
HP:0012038	Corneal guttata	3769	KCNJ13	OMIM:193230
HP:0012038	Corneal guttata	83959	SLC4A11	OMIM:613268
HP:0012038	Corneal guttata	6925	TCF4	OMIM:613267
HP:0012038	Corneal guttata	1296	COL8A2	OMIM:136800
HP:0012039	Descemet Membrane Folds	1296	COL8A2	OMIM:136800
HP:4000158	Typified by high penetrance	4091	SMAD6	OMIM:614823
HP:4000150	Multinucleated neuron	55165	CEP55	OMIM:236500
HP:0012040	Corneal stromal edema	83959	SLC4A11	ORPHA:293603
HP:0012040	Corneal stromal edema	6935	ZEB1	OMIM:613270
HP:0012040	Corneal stromal edema	6935	ZEB1	ORPHA:98973
HP:0012040	Corneal stromal edema	5159	PDGFRB	OMIM:601812
HP:0012040	Corneal stromal edema	7010	TEK	OMIM:617272
HP:0012040	Corneal stromal edema	7010	TEK	ORPHA:98976
HP:0012040	Corneal stromal edema	1296	COL8A2	OMIM:136800
HP:0012040	Corneal stromal edema	1296	COL8A2	ORPHA:98973
HP:0012040	Corneal stromal edema	6925	TCF4	OMIM:613267
HP:0012040	Corneal stromal edema	27151	CPAMD8	OMIM:617319
HP:0012040	Corneal stromal edema	1545	CYP1B1	ORPHA:98976
HP:0012040	Corneal stromal edema	4053	LTBP2	ORPHA:98976
HP:0012040	Corneal stromal edema	4653	MYOC	ORPHA:98976
HP:0012040	Corneal stromal edema	30813	VSX1	ORPHA:98973
HP:0012040	Corneal stromal edema	58495	OVOL2	ORPHA:98973
HP:0012040	Corneal stromal edema	79977	GRHL2	ORPHA:98973
HP:0012040	Corneal stromal edema	7045	TGFBI	ORPHA:98964
HP:0012041	Decreased fertility in males	374407	DNAJB13	OMIM:617091
HP:0012041	Decreased fertility in males	374407	DNAJB13	ORPHA:244
HP:0012041	Decreased fertility in males	139212	DNAAF6	OMIM:300991
HP:0012041	Decreased fertility in males	139212	DNAAF6	ORPHA:244
HP:0012041	Decreased fertility in males	1497	CTNS	OMIM:219800
HP:0012041	Decreased fertility in males	125150	ZSWIM7	OMIM:619831
HP:0012041	Decreased fertility in males	84074	QRICH2	OMIM:618341
HP:0012041	Decreased fertility in males	10734	STAG3	OMIM:619672
HP:0012041	Decreased fertility in males	285498	RNF212	OMIM:619673
HP:0012041	Decreased fertility in males	124404	SEPTIN12	OMIM:614822
HP:0012041	Decreased fertility in males	11055	ZPBP	OMIM:619799
HP:0012041	Decreased fertility in males	147872	KASH5	OMIM:620547
HP:0012041	Decreased fertility in males	144132	DNHD1	OMIM:619712
HP:0012041	Decreased fertility in males	83894	TTC29	OMIM:618745
HP:0012041	Decreased fertility in males	8556	CDC14A	OMIM:608653
HP:0012041	Decreased fertility in males	7258	TSPY1	ORPHA:1646
HP:0012041	Decreased fertility in males	57055	DAZ2	ORPHA:1646
HP:0012041	Decreased fertility in males	57055	DAZ2	OMIM:415000
HP:0012041	Decreased fertility in males	57135	DAZ4	ORPHA:1646
HP:0012041	Decreased fertility in males	8287	USP9Y	ORPHA:1646
HP:0012041	Decreased fertility in males	8287	USP9Y	OMIM:415000
HP:0012041	Decreased fertility in males	5940	RBMY1A1	ORPHA:1646
HP:0012041	Decreased fertility in males	5940	RBMY1A1	OMIM:415000
HP:0012041	Decreased fertility in males	57054	DAZ3	ORPHA:1646
HP:0012041	Decreased fertility in males	57054	DAZ3	OMIM:415000
HP:0012041	Decreased fertility in males	8653	DDX3Y	ORPHA:1646
HP:0012041	Decreased fertility in males	8653	DDX3Y	OMIM:415000
HP:0012041	Decreased fertility in males	1617	DAZ1	ORPHA:1646
HP:0012041	Decreased fertility in males	1617	DAZ1	OMIM:415000
HP:0012041	Decreased fertility in males	286464	CFAP47	OMIM:301059
HP:0012041	Decreased fertility in males	317719	KLHL10	OMIM:615081
HP:0012041	Decreased fertility in males	83449	PMFBP1	OMIM:618112
HP:0012041	Decreased fertility in males	83449	PMFBP1	ORPHA:529970
HP:0012041	Decreased fertility in males	317761	C14orf39	OMIM:619202
HP:0012041	Decreased fertility in males	79925	SPEF2	OMIM:618751
HP:0012041	Decreased fertility in males	79925	SPEF2	ORPHA:244
HP:0012041	Decreased fertility in males	402381	SOHLH1	OMIM:618115
HP:0012041	Decreased fertility in males	201134	CEP112	OMIM:619044
HP:0012041	Decreased fertility in males	122402	TDRD9	OMIM:618110
HP:0012041	Decreased fertility in males	367	AR	ORPHA:90797
HP:0012041	Decreased fertility in males	367	AR	ORPHA:99429
HP:0012041	Decreased fertility in males	146845	CFAP52	OMIM:619607
HP:0012041	Decreased fertility in males	54014	BRWD1	OMIM:620438
HP:0012041	Decreased fertility in males	140801	RPL10L	OMIM:619689
HP:0012041	Decreased fertility in males	56155	TEX14	OMIM:617707
HP:0012041	Decreased fertility in males	254528	MEIOB	OMIM:617706
HP:0012041	Decreased fertility in males	64518	TEKT3	OMIM:620277
HP:0012041	Decreased fertility in males	84690	SPATA22	OMIM:621001
HP:0012041	Decreased fertility in males	2592	GALT	ORPHA:79239
HP:0012041	Decreased fertility in males	1080	CFTR	OMIM:219700
HP:0012041	Decreased fertility in males	1080	CFTR	ORPHA:586
HP:0012041	Decreased fertility in males	1080	CFTR	OMIM:277180
HP:0012041	Decreased fertility in males	1080	CFTR	ORPHA:48
HP:0012041	Decreased fertility in males	2212	FCGR2A	OMIM:219700
HP:0012041	Decreased fertility in males	7040	TGFB1	OMIM:219700
HP:0012041	Decreased fertility in males	7040	TGFB1	ORPHA:586
HP:0012041	Decreased fertility in males	10388	SYCP2	OMIM:258150
HP:0012041	Decreased fertility in males	286151	FBXO43	OMIM:619696
HP:0012041	Decreased fertility in males	8632	DNAH17	OMIM:618643
HP:0012041	Decreased fertility in males	140732	SUN5	ORPHA:529970
HP:0012041	Decreased fertility in males	140732	SUN5	OMIM:617187
HP:0012041	Decreased fertility in males	881	CCIN	OMIM:620838
HP:0012041	Decreased fertility in males	10233	LRRC23	OMIM:620848
HP:0012041	Decreased fertility in males	54970	TTC12	OMIM:618801
HP:0012041	Decreased fertility in males	54970	TTC12	ORPHA:244
HP:0012041	Decreased fertility in males	3973	LHCGR	ORPHA:3000
HP:0012041	Decreased fertility in males	80726	IQCN	OMIM:620170
HP:0012041	Decreased fertility in males	161497	STRC	ORPHA:94064
HP:0012041	Decreased fertility in males	161497	STRC	OMIM:611102
HP:0012041	Decreased fertility in males	161497	STRC	OMIM:612997
HP:0012041	Decreased fertility in males	117155	CATSPER2	ORPHA:94064
HP:0012041	Decreased fertility in males	117155	CATSPER2	OMIM:611102
HP:0012041	Decreased fertility in males	117155	CATSPER2	OMIM:612997
HP:0012041	Decreased fertility in males	6691	SPINK2	OMIM:618091
HP:0012041	Decreased fertility in males	6795	AURKC	OMIM:243060
HP:0012041	Decreased fertility in males	22873	DZIP1	OMIM:619102
HP:0012041	Decreased fertility in males	80705	TSGA10	OMIM:617961
HP:0012041	Decreased fertility in males	56154	TEX15	OMIM:617960
HP:0012041	Decreased fertility in males	10149	ADGRG2	OMIM:300985
HP:0012041	Decreased fertility in males	10149	ADGRG2	ORPHA:48
HP:0012041	Decreased fertility in males	269	AMHR2	OMIM:261550
HP:0012041	Decreased fertility in males	268	AMH	OMIM:261550
HP:0012041	Decreased fertility in males	65975	STK33	OMIM:620849
HP:0012041	Decreased fertility in males	80173	IFT74	OMIM:619585
HP:0012041	Decreased fertility in males	122481	AK7	OMIM:617965
HP:0012041	Decreased fertility in males	6662	SOX9	ORPHA:251510
HP:0012041	Decreased fertility in males	6845	VAMP7	ORPHA:251510
HP:0012041	Decreased fertility in males	51741	WWOX	ORPHA:251510
HP:0012041	Decreased fertility in males	4214	MAP3K1	ORPHA:251510
HP:0012041	Decreased fertility in males	2516	NR5A1	ORPHA:251510
HP:0012041	Decreased fertility in males	7490	WT1	ORPHA:251510
HP:0012041	Decreased fertility in males	57647	DHX37	ORPHA:251510
HP:0012041	Decreased fertility in males	6736	SRY	ORPHA:251510
HP:0012041	Decreased fertility in males	6736	SRY	ORPHA:1772
HP:0012041	Decreased fertility in males	23414	ZFPM2	ORPHA:251510
HP:0012041	Decreased fertility in males	190	NR0B1	ORPHA:251510
HP:0012041	Decreased fertility in males	2626	GATA4	ORPHA:251510
HP:0012041	Decreased fertility in males	130951	M1AP	OMIM:619108
HP:0012041	Decreased fertility in males	9082	XKRY	OMIM:415000
HP:0012041	Decreased fertility in males	9084	VCY	OMIM:415000
HP:0012041	Decreased fertility in males	86614	HSFY1	OMIM:415000
HP:0012041	Decreased fertility in males	9426	CDY2A	OMIM:415000
HP:0012041	Decreased fertility in males	9085	CDY1	OMIM:415000
HP:0012041	Decreased fertility in males	442862	PRY2	OMIM:415000
HP:0012041	Decreased fertility in males	9081	PRY	OMIM:415000
HP:0012041	Decreased fertility in males	9083	BPY2	OMIM:415000
HP:0012041	Decreased fertility in males	140032	RPS4Y2	OMIM:415000
HP:0012041	Decreased fertility in males	8284	KDM5D	OMIM:415000
HP:0012041	Decreased fertility in males	57728	WDR19	OMIM:619867
HP:0012041	Decreased fertility in males	57639	CCDC146	OMIM:620850
HP:0012041	Decreased fertility in males	1588	CYP19A1	ORPHA:91
HP:0012041	Decreased fertility in males	339829	CCDC39	OMIM:613807
HP:0012041	Decreased fertility in males	339829	CCDC39	ORPHA:244
HP:0012041	Decreased fertility in males	27019	DNAI1	OMIM:244400
HP:0012041	Decreased fertility in males	27019	DNAI1	ORPHA:244
HP:0012041	Decreased fertility in males	55012	PPP2R3C	OMIM:618420
HP:0012041	Decreased fertility in males	255101	CFAP65	OMIM:618664
HP:0012041	Decreased fertility in males	25981	DNAH1	OMIM:617576
HP:0012041	Decreased fertility in males	25981	DNAH1	ORPHA:244
HP:0012041	Decreased fertility in males	199223	TTC21A	OMIM:618429
HP:0012041	Decreased fertility in males	55329	MNS1	OMIM:618948
HP:0012041	Decreased fertility in males	89869	PLCZ1	OMIM:617214
HP:0012041	Decreased fertility in males	221481	ARMC12	OMIM:620744
HP:0012041	Decreased fertility in males	64446	DNAI2	OMIM:612444
HP:0012041	Decreased fertility in males	64446	DNAI2	ORPHA:244
HP:0012041	Decreased fertility in males	196385	DNAH10	OMIM:619515
HP:0012041	Decreased fertility in males	49	ACR	OMIM:620500
HP:0012041	Decreased fertility in males	54456	MOV10L1	OMIM:619878
HP:0012041	Decreased fertility in males	8468	FKBP6	OMIM:620103
HP:0012041	Decreased fertility in males	92749	DRC1	OMIM:620222
HP:0012041	Decreased fertility in males	92749	DRC1	ORPHA:244
HP:0012041	Decreased fertility in males	4438	MSH4	OMIM:108420
HP:0012041	Decreased fertility in males	56159	TEX11	OMIM:309120
HP:0012041	Decreased fertility in males	6804	STX1A	ORPHA:586
HP:0012041	Decreased fertility in males	2947	GSTM3	ORPHA:586
HP:0012041	Decreased fertility in males	2729	GCLC	ORPHA:586
HP:0012041	Decreased fertility in males	1084	CEACAM3	ORPHA:586
HP:0012041	Decreased fertility in males	6556	SLC11A1	ORPHA:586
HP:0012041	Decreased fertility in males	51164	DCTN4	ORPHA:586
HP:0012041	Decreased fertility in males	3783	KCNN4	ORPHA:586
HP:0012041	Decreased fertility in males	4282	MIF	ORPHA:586
HP:0012041	Decreased fertility in males	1909	EDNRA	ORPHA:586
HP:0012041	Decreased fertility in males	6550	SLC9A3	ORPHA:586
HP:0012041	Decreased fertility in males	3162	HMOX1	ORPHA:586
HP:0012041	Decreased fertility in males	115019	SLC26A9	ORPHA:586
HP:0012041	Decreased fertility in males	3077	HFE	ORPHA:586
HP:0012041	Decreased fertility in males	11254	SLC6A14	ORPHA:586
HP:0012041	Decreased fertility in males	5265	SERPINA1	ORPHA:586
HP:0012041	Decreased fertility in males	22802	CLCA4	ORPHA:586
HP:0012041	Decreased fertility in males	4680	CEACAM6	ORPHA:586
HP:0012041	Decreased fertility in males	6756	SSX1	OMIM:301099
HP:0012041	Decreased fertility in males	84071	ARMC2	OMIM:618433
HP:0012041	Decreased fertility in males	144406	CFAP251	OMIM:618152
HP:0012041	Decreased fertility in males	401024	FSIP2	OMIM:618153
HP:0012041	Decreased fertility in males	118491	CFAP70	OMIM:618670
HP:0012041	Decreased fertility in males	6875	TAF4B	OMIM:615841
HP:0012041	Decreased fertility in males	154197	PNLDC1	OMIM:619528
HP:0012041	Decreased fertility in males	84660	CCDC62	OMIM:619803
HP:0012041	Decreased fertility in males	84225	ZMYND15	OMIM:615842
HP:0012041	Decreased fertility in males	54919	DNAAF5	OMIM:614874
HP:0012041	Decreased fertility in males	54919	DNAAF5	ORPHA:244
HP:0012041	Decreased fertility in males	151254	C2CD6	OMIM:619805
HP:0012041	Decreased fertility in males	145645	TERB2	OMIM:619645
HP:0012041	Decreased fertility in males	283847	TERB1	OMIM:619646
HP:0012041	Decreased fertility in males	56171	DNAH7	OMIM:620356
HP:0012041	Decreased fertility in males	10566	AKAP3	OMIM:620353
HP:0012041	Decreased fertility in males	7802	DNALI1	OMIM:620354
HP:0012041	Decreased fertility in males	85452	CFAP74	OMIM:620197
HP:0012041	Decreased fertility in males	85452	CFAP74	ORPHA:244
HP:0012041	Decreased fertility in males	157855	KCNU1	OMIM:620196
HP:0012041	Decreased fertility in males	146754	DNAH2	OMIM:619094
HP:0012041	Decreased fertility in males	83844	USP26	OMIM:301101
HP:0012041	Decreased fertility in males	91057	CCDC34	OMIM:620084
HP:0012041	Decreased fertility in males	1769	DNAH8	OMIM:619095
HP:0012041	Decreased fertility in males	55779	CFAP44	OMIM:617593
HP:0012041	Decreased fertility in males	80217	CFAP43	OMIM:617592
HP:0012041	Decreased fertility in males	284382	ACTL9	OMIM:619258
HP:0012041	Decreased fertility in males	375307	CATIP	OMIM:619379
HP:0012041	Decreased fertility in males	54967	CT55	OMIM:301106
HP:0012041	Decreased fertility in males	4439	MSH5	OMIM:619937
HP:0012041	Decreased fertility in males	9075	CLDN2	OMIM:301060
HP:0012041	Decreased fertility in males	283417	DPY19L2	OMIM:613958
HP:0012041	Decreased fertility in males	50511	SYCP3	OMIM:270960
HP:0012041	Decreased fertility in males	9247	GCM2	ORPHA:2239
HP:0012041	Decreased fertility in males	115948	ODAD3	ORPHA:244
HP:0012041	Decreased fertility in males	54768	HYDIN	ORPHA:244
HP:0012041	Decreased fertility in males	352909	DNAAF3	ORPHA:244
HP:0012041	Decreased fertility in males	27148	STK36	ORPHA:244
HP:0012041	Decreased fertility in males	51314	NME8	ORPHA:244
HP:0012041	Decreased fertility in males	152110	NEK10	ORPHA:244
HP:0012041	Decreased fertility in males	8481	OFD1	ORPHA:244
HP:0012041	Decreased fertility in males	2302	FOXJ1	ORPHA:244
HP:0012041	Decreased fertility in males	221421	RSPH9	ORPHA:244
HP:0012041	Decreased fertility in males	85478	CCDC65	ORPHA:244
HP:0012041	Decreased fertility in males	55036	CCDC40	ORPHA:244
HP:0012041	Decreased fertility in males	51364	ZMYND10	ORPHA:244
HP:0012041	Decreased fertility in males	8382	NME5	ORPHA:244
HP:0012041	Decreased fertility in males	6674	SPAG1	ORPHA:244
HP:0012041	Decreased fertility in males	83544	DNAL1	ORPHA:244
HP:0012041	Decreased fertility in males	89765	RSPH1	ORPHA:244
HP:0012041	Decreased fertility in males	83538	ODAD4	ORPHA:244
HP:0012041	Decreased fertility in males	200373	CFAP221	ORPHA:244
HP:0012041	Decreased fertility in males	55172	DNAAF2	ORPHA:244
HP:0012041	Decreased fertility in males	161582	DNAAF4	ORPHA:244
HP:0012041	Decreased fertility in males	2622	GAS8	ORPHA:244
HP:0012041	Decreased fertility in males	23639	DNAAF11	ORPHA:244
HP:0012041	Decreased fertility in males	23639	DNAAF11	OMIM:614935
HP:0012041	Decreased fertility in males	345895	RSPH4A	ORPHA:244
HP:0012041	Decreased fertility in males	6103	RPGR	ORPHA:244
HP:0012041	Decreased fertility in males	93233	ODAD1	ORPHA:244
HP:0012041	Decreased fertility in males	55130	ODAD2	ORPHA:244
HP:0012041	Decreased fertility in males	1767	DNAH5	ORPHA:244
HP:0012041	Decreased fertility in males	83861	RSPH3	ORPHA:244
HP:0012041	Decreased fertility in males	345643	MCIDAS	ORPHA:244
HP:0012041	Decreased fertility in males	56683	CFAP298	ORPHA:244
HP:0012041	Decreased fertility in males	10309	CCNO	ORPHA:244
HP:0012041	Decreased fertility in males	115399	LRRC56	ORPHA:244
HP:0012041	Decreased fertility in males	123872	DNAAF1	ORPHA:244
HP:0012041	Decreased fertility in males	85016	CFAP300	ORPHA:244
HP:0012041	Decreased fertility in males	8701	DNAH11	ORPHA:244
HP:0012041	Decreased fertility in males	1770	DNAH9	ORPHA:244
HP:0012041	Decreased fertility in males	246176	GAS2L2	ORPHA:244
HP:0012041	Decreased fertility in males	81833	SPACA1	OMIM:620490
HP:0012041	Decreased fertility in males	200162	SPAG17	OMIM:619380
HP:0012041	Decreased fertility in males	641	BLM	ORPHA:125
HP:0012041	Decreased fertility in males	93953	GCNA	OMIM:301077
HP:0012041	Decreased fertility in males	116369	SLC26A8	OMIM:606766
HP:0012041	Decreased fertility in males	1538	CYLC1	OMIM:301119
HP:0012041	Decreased fertility in males	159686	CFAP58	OMIM:619144
HP:0012041	Decreased fertility in males	26074	CFAP61	OMIM:620409
HP:0012041	Decreased fertility in males	199720	GGN	OMIM:619826
HP:0012041	Decreased fertility in males	676	BRDT	OMIM:617644
HP:0012041	Decreased fertility in males	93426	SYCE1	OMIM:616950
HP:0012041	Decreased fertility in males	158401	SHOC1	OMIM:619949
HP:0012041	Decreased fertility in males	5161	PDHA2	OMIM:619828
HP:0012041	Decreased fertility in males	117144	CATSPER1	OMIM:612997
HP:0012041	Decreased fertility in males	10881	ACTL7A	OMIM:620499
HP:0012041	Decreased fertility in males	83893	SPATA16	OMIM:102530
HP:0012041	Decreased fertility in males	673	BRAF	OMIM:163950
HP:0012041	Decreased fertility in males	5604	MAP2K1	OMIM:163950
HP:0012041	Decreased fertility in males	5781	PTPN11	OMIM:163950
HP:0012041	Decreased fertility in males	64072	CDH23	ORPHA:91347
HP:0012041	Decreased fertility in males	64072	CDH23	ORPHA:2965
HP:0012041	Decreased fertility in males	1528	CYB5A	ORPHA:90796
HP:0012041	Decreased fertility in males	1586	CYP17A1	ORPHA:90796
HP:0012041	Decreased fertility in males	4221	MEN1	ORPHA:2965
HP:0012041	Decreased fertility in males	9049	AIP	ORPHA:2965
HP:0012041	Decreased fertility in males	7840	ALMS1	ORPHA:64
HP:0012041	Decreased fertility in males	672	BRCA1	ORPHA:84
HP:0012041	Decreased fertility in males	10459	MAD2L2	ORPHA:84
HP:0012041	Decreased fertility in males	7516	XRCC2	ORPHA:84
HP:0012041	Decreased fertility in males	29089	UBE2T	ORPHA:84
HP:0012041	Decreased fertility in males	675	BRCA2	ORPHA:84
HP:0012041	Decreased fertility in males	55120	FANCL	ORPHA:84
HP:0012041	Decreased fertility in males	2177	FANCD2	ORPHA:84
HP:0012041	Decreased fertility in males	2175	FANCA	ORPHA:84
HP:0012041	Decreased fertility in males	2187	FANCB	ORPHA:84
HP:0012041	Decreased fertility in males	2176	FANCC	ORPHA:84
HP:0012041	Decreased fertility in males	2178	FANCE	ORPHA:84
HP:0012041	Decreased fertility in males	2188	FANCF	ORPHA:84
HP:0012041	Decreased fertility in males	2189	FANCG	ORPHA:84
HP:0012041	Decreased fertility in males	5888	RAD51	ORPHA:84
HP:0012041	Decreased fertility in males	5889	RAD51C	ORPHA:84
HP:0012041	Decreased fertility in males	55159	RFWD3	ORPHA:84
HP:0012041	Decreased fertility in males	83990	BRIP1	ORPHA:84
HP:0012041	Decreased fertility in males	57697	FANCM	ORPHA:84
HP:0012041	Decreased fertility in males	79728	PALB2	ORPHA:84
HP:0012041	Decreased fertility in males	84464	SLX4	ORPHA:84
HP:0012041	Decreased fertility in males	2072	ERCC4	ORPHA:84
HP:0012041	Decreased fertility in males	55215	FANCI	ORPHA:84
HP:0012041	Decreased fertility in males	3284	HSD3B2	ORPHA:90791
HP:0012041	Decreased fertility in males	5573	PRKAR1A	ORPHA:1359
HP:0012041	Decreased fertility in males	50940	PDE11A	ORPHA:1359
HP:0012042	Aspirin-induced asthma	30009	TBX21	OMIM:208550
HP:0012042	Aspirin-induced asthma	5732	PTGER2	OMIM:208550
HP:0012043	Pendular nystagmus	9181	ARHGEF2	OMIM:617523
HP:0012043	Pendular nystagmus	4041	LRP5	OMIM:601813
HP:0012043	Pendular nystagmus	4508	MT-ATP6	ORPHA:225154
HP:0012043	Pendular nystagmus	53371	NUP54	ORPHA:225154
HP:0012043	Pendular nystagmus	103	ADAR	ORPHA:225154
HP:0012043	Pendular nystagmus	6323	SCN1A	OMIM:619317
HP:0012043	Pendular nystagmus	220202	ATOH7	OMIM:221900
HP:0012043	Pendular nystagmus	22926	ATF6	ORPHA:49382
HP:0012043	Pendular nystagmus	5146	PDE6C	ORPHA:49382
HP:0012043	Pendular nystagmus	6103	RPGR	ORPHA:49382
HP:0012043	Pendular nystagmus	5149	PDE6H	ORPHA:49382
HP:0012043	Pendular nystagmus	2780	GNAT2	ORPHA:49382
HP:0012043	Pendular nystagmus	1261	CNGA3	ORPHA:49382
HP:0012043	Pendular nystagmus	1261	CNGA3	OMIM:216900
HP:0012043	Pendular nystagmus	54714	CNGB3	ORPHA:49382
HP:0012043	Pendular nystagmus	611	OPN1SW	ORPHA:88629
HP:0012043	Pendular nystagmus	5917	RARS1	OMIM:616140
HP:0012043	Pendular nystagmus	5956	OPN1LW	OMIM:303700
HP:0012043	Pendular nystagmus	2652	OPN1MW	OMIM:303700
HP:0012043	Pendular nystagmus	5828	PEX2	OMIM:614866
HP:0012043	Pendular nystagmus	9725	TMEM63A	OMIM:618688
HP:0012043	Pendular nystagmus	26504	CNNM4	OMIM:217080
HP:0012043	Pendular nystagmus	8398	PLA2G6	ORPHA:35069
HP:0012043	Pendular nystagmus	5498	PPOX	OMIM:620483
HP:0012043	Pendular nystagmus	23746	AIPL1	OMIM:604393
HP:0012043	Pendular nystagmus	90167	FRMD7	OMIM:310700
HP:0012043	Pendular nystagmus	1737	DLAT	OMIM:245348
HP:0012043	Pendular nystagmus	23636	NUP62	OMIM:271930
HP:0012043	Pendular nystagmus	79718	TBL1XR1	OMIM:602342
HP:0012043	Pendular nystagmus	79718	TBL1XR1	ORPHA:487825
HP:0012043	Pendular nystagmus	5354	PLP1	ORPHA:280210
HP:0012043	Pendular nystagmus	22978	NT5C2	ORPHA:320396
HP:0012043	Pendular nystagmus	388552	BLOC1S3	OMIM:614077
HP:0012043	Pendular nystagmus	54681	P4HTM	OMIM:618493
HP:0012043	Pendular nystagmus	55714	TENM3	OMIM:615145
HP:0012043	Pendular nystagmus	833	CARS1	OMIM:618891
HP:0012043	Pendular nystagmus	6392	SDHD	OMIM:619167
HP:0012043	Pendular nystagmus	54664	TMEM106B	OMIM:617964
HP:0012043	Pendular nystagmus	2670	GFAP	OMIM:203450
HP:0012043	Pendular nystagmus	3149	HMGB3	OMIM:300915
HP:0012043	Pendular nystagmus	23268	DNMBP	OMIM:618415
HP:0012043	Pendular nystagmus	57096	RPGRIP1	OMIM:613826
HP:0012043	Pendular nystagmus	1406	CRX	OMIM:613829
HP:0012043	Pendular nystagmus	773	CACNA1A	ORPHA:569
HP:0012043	Pendular nystagmus	112476	PRRT2	ORPHA:569
HP:0012043	Pendular nystagmus	477	ATP1A2	ORPHA:569
HP:0012043	Pendular nystagmus	8218	CLTCL1	ORPHA:453510
HP:0012044	Seesaw nystagmus	773	CACNA1A	ORPHA:569
HP:0012044	Seesaw nystagmus	112476	PRRT2	ORPHA:569
HP:0012044	Seesaw nystagmus	6323	SCN1A	ORPHA:569
HP:0012044	Seesaw nystagmus	477	ATP1A2	ORPHA:569
HP:0012044	Seesaw nystagmus	8218	CLTCL1	ORPHA:453510
HP:0012045	Retinal flecks	8842	PROM1	OMIM:603786
HP:0012045	Retinal flecks	7439	BEST1	OMIM:611809
HP:0012045	Retinal flecks	7439	BEST1	OMIM:613194
HP:0012045	Retinal flecks	5959	RDH5	OMIM:136880
HP:0012045	Retinal flecks	6010	RHO	OMIM:136880
HP:0012045	Retinal flecks	6017	RLBP1	OMIM:136880
HP:0012045	Retinal flecks	5961	PRPH2	OMIM:136880
HP:0012045	Retinal flecks	57096	RPGRIP1	OMIM:613826
HP:0012045	Retinal flecks	23503	ZFYVE26	ORPHA:100996
HP:0012045	Retinal flecks	5322	PLA2G5	OMIM:228980
HP:0012046	Areflexia of upper limbs	6709	SPTAN1	OMIM:620528
HP:0012046	Areflexia of upper limbs	22943	DKK1	ORPHA:268882
HP:0012046	Areflexia of upper limbs	6548	SLC9A1	OMIM:616291
HP:0012046	Areflexia of upper limbs	7504	XK	OMIM:300842
HP:0012046	Areflexia of upper limbs	81846	SBF2	ORPHA:99956
HP:0012046	Areflexia of upper limbs	3508	IGHMBP2	OMIM:616155
HP:0012046	Areflexia of upper limbs	182	JAG1	OMIM:619574
HP:0012046	Areflexia of upper limbs	81570	CLPB	OMIM:616271
HP:0012047	Hemeralopia	26160	IFT172	OMIM:619471
HP:0012047	Hemeralopia	10002	NR2E3	OMIM:268100
HP:0012047	Hemeralopia	9997	SCO2	OMIM:604377
HP:0012047	Hemeralopia	3000	GUCY2D	OMIM:601777
HP:0012047	Hemeralopia	2916	GRM6	OMIM:257270
HP:0012047	Hemeralopia	84131	CEP78	OMIM:617236
HP:0012047	Hemeralopia	1261	CNGA3	OMIM:216900
HP:0012047	Hemeralopia	7287	TULP1	OMIM:613843
HP:0012047	Hemeralopia	60506	NYX	OMIM:310500
HP:0012047	Hemeralopia	6314	ATXN7	ORPHA:94147
HP:0012048	Oromandibular dystonia	80347	COASY	ORPHA:397725
HP:0012048	Oromandibular dystonia	80347	COASY	OMIM:615643
HP:0012048	Oromandibular dystonia	9757	KMT2B	ORPHA:589618
HP:0012048	Oromandibular dystonia	9757	KMT2B	OMIM:617284
HP:0012048	Oromandibular dystonia	64601	VPS16	OMIM:619291
HP:0012048	Oromandibular dystonia	80025	PANK2	ORPHA:216873
HP:0012048	Oromandibular dystonia	63982	ANO3	OMIM:615034
HP:0012048	Oromandibular dystonia	63982	ANO3	ORPHA:420485
HP:0012048	Oromandibular dystonia	23516	SLC39A14	OMIM:617013
HP:0012048	Oromandibular dystonia	23516	SLC39A14	ORPHA:521406
HP:0012048	Oromandibular dystonia	6531	SLC6A3	OMIM:613135
HP:0012048	Oromandibular dystonia	1822	ATN1	ORPHA:101
HP:0012048	Oromandibular dystonia	1678	TIMM8A	ORPHA:52368
HP:0012048	Oromandibular dystonia	2521	FUS	ORPHA:300605
HP:0012048	Oromandibular dystonia	80208	SPG11	ORPHA:300605
HP:0012048	Oromandibular dystonia	10280	SIGMAR1	ORPHA:300605
HP:0012048	Oromandibular dystonia	10558	SPTLC1	ORPHA:300605
HP:0012048	Oromandibular dystonia	57679	ALS2	ORPHA:300605
HP:0012048	Oromandibular dystonia	83636	C19orf12	OMIM:614298
HP:0012048	Oromandibular dystonia	55145	THAP1	OMIM:602629
HP:0012048	Oromandibular dystonia	1293	COL6A3	OMIM:616411
HP:0012048	Oromandibular dystonia	1293	COL6A3	ORPHA:464440
HP:0012048	Oromandibular dystonia	23230	VPS13A	ORPHA:2388
HP:0012048	Oromandibular dystonia	1861	TOR1A	OMIM:128100
HP:0012048	Oromandibular dystonia	9256	TSPOAP1	OMIM:620453
HP:0012048	Oromandibular dystonia	9898	UBAP2L	OMIM:620494
HP:0012049	Laryngeal dystonia	2512	FTL	OMIM:606159
HP:0012049	Laryngeal dystonia	2774	GNAL	OMIM:615073
HP:0012049	Laryngeal dystonia	2774	GNAL	ORPHA:329466
HP:0012049	Laryngeal dystonia	25885	POLR1A	OMIM:616462
HP:0012049	Laryngeal dystonia	8575	PRKRA	OMIM:612067
HP:0012049	Laryngeal dystonia	10382	TUBB4A	ORPHA:98805
HP:0012049	Laryngeal dystonia	55145	THAP1	ORPHA:98806
HP:0012049	Laryngeal dystonia	55145	THAP1	OMIM:602629
HP:0012049	Laryngeal dystonia	55823	VPS11	OMIM:619637
HP:0012049	Laryngeal dystonia	2778	GNAS	ORPHA:94089
HP:0012049	Laryngeal dystonia	2778	GNAS	ORPHA:79443
HP:0012049	Laryngeal dystonia	2778	GNAS	ORPHA:79444
HP:0012049	Laryngeal dystonia	8675	STX16	ORPHA:94089
HP:0012049	Laryngeal dystonia	9757	KMT2B	OMIM:617284
HP:0012049	Laryngeal dystonia	518	ATP5MC3	OMIM:619681
HP:0012049	Laryngeal dystonia	79734	KCTD17	OMIM:616398
HP:0012049	Laryngeal dystonia	1293	COL6A3	OMIM:616411
HP:0012049	Laryngeal dystonia	1293	COL6A3	ORPHA:464440
HP:0012049	Laryngeal dystonia	23230	VPS13A	ORPHA:2388
HP:0012049	Laryngeal dystonia	9256	TSPOAP1	OMIM:620453
HP:4000169	Pontine T2 hypointensity	26278	SACS	OMIM:270550
HP:4000166	Post-vaccination varicella zoster virus infection	11151	CORO1A	OMIM:615401
HP:4000165	Decreased circulating plasmalogen concentration	8443	GNPAT	OMIM:222765
HP:4000163	Reduced phytanic acid oxidase activity in cultured fibroblasts	5191	PEX7	OMIM:266500
HP:4000163	Reduced phytanic acid oxidase activity in cultured fibroblasts	5264	PHYH	OMIM:266500
HP:0012050	Anasarca	83483	PLVAP	OMIM:618183
HP:0012050	Anasarca	5373	PMM2	ORPHA:79318
HP:0012050	Anasarca	1798	DPAGT1	ORPHA:86309
HP:0012050	Anasarca	197131	UBR1	OMIM:243800
HP:0012050	Anasarca	51422	PRKAG2	OMIM:261740
HP:0012050	Anasarca	50619	DEF6	OMIM:619573
HP:0012050	Anasarca	950	SCARB2	OMIM:254900
HP:0012050	Anasarca	10056	FARSB	OMIM:613658
HP:0012050	Anasarca	5428	POLG	OMIM:203700
HP:0012050	Anasarca	4868	NPHS1	OMIM:256300
HP:0012051	Reactive hypoglycemia	2746	GLUD1	ORPHA:35878
HP:0012051	Reactive hypoglycemia	7351	UCP2	ORPHA:276556
HP:0012051	Reactive hypoglycemia	5122	PCSK1	OMIM:600955
HP:0012051	Reactive hypoglycemia	6927	HNF1A	ORPHA:324575
HP:0012051	Reactive hypoglycemia	4221	MEN1	ORPHA:97279
HP:0012051	Reactive hypoglycemia	7528	YY1	ORPHA:97279
HP:0012051	Reactive hypoglycemia	229	ALDOB	ORPHA:469
HP:0012052	Low serum calcitriol	4041	LRP5	ORPHA:2788
HP:0012052	Low serum calcitriol	1576	CYP3A4	OMIM:619073
HP:0012052	Low serum calcitriol	10686	CLDN16	OMIM:248250
HP:0012052	Low serum calcitriol	1594	CYP27B1	OMIM:264700
HP:0012052	Low serum calcitriol	1594	CYP27B1	ORPHA:289157
HP:0012052	Low serum calcitriol	1758	DMP1	ORPHA:289176
HP:0012052	Low serum calcitriol	5167	ENPP1	ORPHA:289176
HP:0012052	Low serum calcitriol	120227	CYP2R1	ORPHA:289157
HP:0012053	Decreased circulating calcifediol concentration	1576	CYP3A4	OMIM:619073
HP:0012053	Decreased circulating calcifediol concentration	120227	CYP2R1	OMIM:600081
HP:0012053	Decreased circulating calcifediol concentration	23600	AMACR	OMIM:214950
HP:0012053	Decreased circulating calcifediol concentration	1594	CYP27B1	OMIM:264700
HP:0012054	Choroidal melanoma	8314	BAP1	ORPHA:39044
HP:0012054	Choroidal melanoma	57105	CYSLTR2	ORPHA:39044
HP:0012054	Choroidal melanoma	2776	GNAQ	ORPHA:39044
HP:0012054	Choroidal melanoma	2767	GNA11	ORPHA:39044
HP:0012054	Choroidal melanoma	23451	SF3B1	ORPHA:39044
HP:0012055	Ciliary body melanoma	8314	BAP1	ORPHA:39044
HP:0012055	Ciliary body melanoma	57105	CYSLTR2	ORPHA:39044
HP:0012055	Ciliary body melanoma	2776	GNAQ	ORPHA:39044
HP:0012055	Ciliary body melanoma	2767	GNA11	ORPHA:39044
HP:0012055	Ciliary body melanoma	23451	SF3B1	ORPHA:39044
HP:0012056	Cutaneous melanoma	1308	COL17A1	ORPHA:79406
HP:0012056	Cutaneous melanoma	4312	MMP1	ORPHA:79408
HP:0012056	Cutaneous melanoma	1294	COL7A1	ORPHA:79408
HP:0012056	Cutaneous melanoma	1294	COL7A1	ORPHA:79409
HP:0012056	Cutaneous melanoma	1294	COL7A1	ORPHA:79410
HP:0012056	Cutaneous melanoma	1294	COL7A1	ORPHA:79411
HP:0012056	Cutaneous melanoma	4893	NRAS	OMIM:137550
HP:0012056	Cutaneous melanoma	4893	NRAS	ORPHA:626
HP:0012056	Cutaneous melanoma	3265	HRAS	OMIM:137550
HP:0012056	Cutaneous melanoma	3265	HRAS	ORPHA:2874
HP:0012056	Cutaneous melanoma	7852	CXCR4	ORPHA:51636
HP:0012056	Cutaneous melanoma	673	BRAF	OMIM:155600
HP:0012056	Cutaneous melanoma	673	BRAF	ORPHA:626
HP:0012056	Cutaneous melanoma	6794	STK11	OMIM:155600
HP:0012056	Cutaneous melanoma	1029	CDKN2A	OMIM:155755
HP:0012056	Cutaneous melanoma	1029	CDKN2A	OMIM:155601
HP:0012056	Cutaneous melanoma	4286	MITF	OMIM:614456
HP:0012056	Cutaneous melanoma	5429	POLH	OMIM:278750
HP:0012056	Cutaneous melanoma	8314	BAP1	OMIM:614327
HP:0012056	Cutaneous melanoma	2071	ERCC3	OMIM:610651
HP:0012056	Cutaneous melanoma	6660	SOX5	ORPHA:626
HP:0012056	Cutaneous melanoma	238	ALK	ORPHA:626
HP:0012056	Cutaneous melanoma	9839	ZEB2	ORPHA:626
HP:0012056	Cutaneous melanoma	5894	RAF1	ORPHA:626
HP:0012056	Cutaneous melanoma	1019	CDK4	OMIM:609048
HP:0012056	Cutaneous melanoma	7486	WRN	ORPHA:902
HP:0012056	Cutaneous melanoma	4157	MC1R	ORPHA:79432
HP:0012056	Cutaneous melanoma	4948	OCA2	ORPHA:79432
HP:0012056	Cutaneous melanoma	7508	XPC	OMIM:278720
HP:0012059	Lentigo maligna melanoma	673	BRAF	OMIM:613706
HP:4000170	Anti-platelet antigen antibody positivity	10020	GNE	OMIM:620757
HP:4000170	Anti-platelet antigen antibody positivity	9103	FCGR2C	ORPHA:3002
HP:4000170	Anti-platelet antigen antibody positivity	60	ACTB	OMIM:620475
HP:0012060	Acral lentiginous melanoma	7486	WRN	ORPHA:902
HP:0012061	Urinary excretion of sialylated oligosaccharides	4758	NEU1	ORPHA:812
HP:0012061	Urinary excretion of sialylated oligosaccharides	4758	NEU1	OMIM:256550
HP:0012062	Bone cyst	54209	TREM2	OMIM:618193
HP:0012062	Bone cyst	54209	TREM2	ORPHA:2770
HP:0012062	Bone cyst	10483	SEC23B	ORPHA:201
HP:0012062	Bone cyst	5728	PTEN	ORPHA:201
HP:0012062	Bone cyst	6390	SDHB	ORPHA:201
HP:0012062	Bone cyst	6392	SDHD	ORPHA:201
HP:0012062	Bone cyst	6391	SDHC	ORPHA:201
HP:0012062	Bone cyst	207	AKT1	ORPHA:201
HP:0012062	Bone cyst	205717	USF3	ORPHA:201
HP:0012062	Bone cyst	5290	PIK3CA	ORPHA:201
HP:0012062	Bone cyst	100144748	KLLN	ORPHA:201
HP:0012062	Bone cyst	6452	SH3BP2	ORPHA:184
HP:0012062	Bone cyst	7421	VDR	ORPHA:93160
HP:0012062	Bone cyst	3123	HLA-DRB1	OMIM:181000
HP:0012062	Bone cyst	3123	HLA-DRB1	ORPHA:797
HP:0012062	Bone cyst	4854	NOTCH3	ORPHA:2591
HP:0012062	Bone cyst	5159	PDGFRB	ORPHA:2591
HP:0012062	Bone cyst	26137	ZBTB20	ORPHA:3042
HP:0012062	Bone cyst	4763	NF1	ORPHA:363700
HP:0012062	Bone cyst	7305	TYROBP	OMIM:221770
HP:0012062	Bone cyst	7305	TYROBP	ORPHA:2770
HP:0012062	Bone cyst	10216	PRG4	ORPHA:2848
HP:0012062	Bone cyst	2260	FGFR1	ORPHA:2396
HP:0012062	Bone cyst	3845	KRAS	ORPHA:2396
HP:0012062	Bone cyst	5468	PPARG	ORPHA:528
HP:0012062	Bone cyst	10555	AGPAT2	ORPHA:528
HP:0012062	Bone cyst	284119	CAVIN1	ORPHA:528
HP:0012062	Bone cyst	26580	BSCL2	ORPHA:528
HP:0012062	Bone cyst	2353	FOS	ORPHA:528
HP:0012062	Bone cyst	857	CAV1	ORPHA:528
HP:0012062	Bone cyst	56244	BTNL2	ORPHA:797
HP:0012062	Bone cyst	2778	GNAS	ORPHA:562
HP:0012062	Bone cyst	567	B2M	ORPHA:314652
HP:0012063	Aneurysmal bone cyst	2778	GNAS	ORPHA:562
HP:0012065	Multiple bony cystic lesions	567	B2M	ORPHA:314652
HP:0012066	Increased urinary disaccharide excretion	4126	MANBA	OMIM:248510
HP:0012067	Glycopeptiduria	4668	NAGA	OMIM:609241
HP:0012067	Glycopeptiduria	4668	NAGA	OMIM:609242
HP:0012067	Glycopeptiduria	4758	NEU1	ORPHA:812
HP:0012067	Glycopeptiduria	4758	NEU1	OMIM:256550
HP:0012067	Glycopeptiduria	2517	FUCA1	OMIM:230000
HP:0012067	Glycopeptiduria	175	AGA	OMIM:208400
HP:0012067	Glycopeptiduria	175	AGA	ORPHA:93
HP:0012068	Aspartylglucosaminuria	175	AGA	OMIM:208400
HP:0012068	Aspartylglucosaminuria	175	AGA	ORPHA:93
HP:0012069	Keratan sulfate excretion in urine	2720	GLB1	OMIM:253010
HP:0012069	Keratan sulfate excretion in urine	2588	GALNS	OMIM:253000
HP:0012069	Keratan sulfate excretion in urine	1280	COL2A1	ORPHA:485
HP:0012069	Keratan sulfate excretion in urine	55768	NGLY1	OMIM:615273
HP:0012069	Keratan sulfate excretion in urine	79158	GNPTAB	ORPHA:423461
HP:4000184	Reduced erythrocyte adenosine triphosphate concentration	2623	GATA1	OMIM:301083
HP:4000183	Abnormal erythrocyte adenosine triphosphate concentration	2623	GATA1	OMIM:301083
HP:0012070	Chondroitin sulfate excretion in urine	2720	GLB1	OMIM:253010
HP:0012070	Chondroitin sulfate excretion in urine	2588	GALNS	OMIM:253000
HP:0012070	Chondroitin sulfate excretion in urine	55768	NGLY1	OMIM:615273
HP:0012071	Abnormal circulating acylcarnitine concentration	283209	PGM2L1	OMIM:620191
HP:0012071	Abnormal circulating acylcarnitine concentration	3033	HADH	ORPHA:71212
HP:0012071	Abnormal circulating acylcarnitine concentration	84033	OBSCN	OMIM:620235
HP:0012071	Abnormal circulating acylcarnitine concentration	84896	ATAD1	OMIM:618011
HP:0012071	Abnormal circulating acylcarnitine concentration	25974	MMACHC	ORPHA:79282
HP:0012071	Abnormal circulating acylcarnitine concentration	84693	MCEE	OMIM:251120
HP:0012071	Abnormal circulating acylcarnitine concentration	2639	GCDH	OMIM:231670
HP:0012071	Abnormal circulating acylcarnitine concentration	55788	LMBRD1	OMIM:277380
HP:0012071	Abnormal circulating acylcarnitine concentration	5826	ABCD4	OMIM:614857
HP:0012071	Abnormal circulating acylcarnitine concentration	326625	MMAB	OMIM:251110
HP:0012071	Abnormal circulating acylcarnitine concentration	23474	ETHE1	OMIM:602473
HP:0012071	Abnormal circulating acylcarnitine concentration	3712	IVD	ORPHA:33
HP:0012071	Abnormal circulating acylcarnitine concentration	51241	COX16	OMIM:619355
HP:0012071	Abnormal circulating acylcarnitine concentration	35	ACADS	ORPHA:26792
HP:0012071	Abnormal circulating acylcarnitine concentration	55065	SLC52A1	OMIM:615026
HP:0012071	Abnormal circulating acylcarnitine concentration	128989	TANGO2	OMIM:616878
HP:0012071	Abnormal circulating acylcarnitine concentration	128989	TANGO2	ORPHA:480864
HP:0012071	Abnormal circulating acylcarnitine concentration	1376	CPT2	ORPHA:228302
HP:0012071	Abnormal circulating acylcarnitine concentration	1376	CPT2	ORPHA:228305
HP:0012071	Abnormal circulating acylcarnitine concentration	1376	CPT2	ORPHA:228308
HP:0012071	Abnormal circulating acylcarnitine concentration	90624	LYRM7	OMIM:615838
HP:0012071	Abnormal circulating acylcarnitine concentration	28976	ACAD9	ORPHA:99901
HP:0012071	Abnormal circulating acylcarnitine concentration	3030	HADHA	OMIM:609015
HP:0012071	Abnormal circulating acylcarnitine concentration	788	SLC25A20	ORPHA:159
HP:0012071	Abnormal circulating acylcarnitine concentration	27034	ACAD8	ORPHA:79159
HP:0012071	Abnormal circulating acylcarnitine concentration	133686	NADK2	OMIM:616034
HP:0012072	Aciduria	55343	SLC35C1	OMIM:266265
HP:0012072	Aciduria	5095	PCCA	ORPHA:35
HP:0012072	Aciduria	5096	PCCB	ORPHA:35
HP:0012072	Aciduria	22	ABCB7	OMIM:301310
HP:0012072	Aciduria	22	ABCB7	ORPHA:2802
HP:0012072	Aciduria	283209	PGM2L1	OMIM:620191
HP:0012072	Aciduria	56922	MCCC1	ORPHA:6
HP:0012072	Aciduria	64087	MCCC2	ORPHA:6
HP:0012072	Aciduria	64087	MCCC2	OMIM:210210
HP:0012072	Aciduria	3155	HMGCL	OMIM:246450
HP:0012072	Aciduria	5442	POLRMT	OMIM:619743
HP:0012072	Aciduria	291	SLC25A4	OMIM:617184
HP:0012072	Aciduria	51660	MPC1	OMIM:614741
HP:0012072	Aciduria	80308	FLAD1	OMIM:255100
HP:0012072	Aciduria	133686	NADK2	ORPHA:431361
HP:0012072	Aciduria	3141	HLCS	OMIM:253270
HP:0012072	Aciduria	3141	HLCS	ORPHA:79242
HP:0012072	Aciduria	686	BTD	OMIM:253260
HP:0012072	Aciduria	686	BTD	ORPHA:79241
HP:0012072	Aciduria	60386	SLC25A19	ORPHA:99742
HP:0012072	Aciduria	79581	SLC52A2	OMIM:614707
HP:0012072	Aciduria	2628	GATM	OMIM:612718
HP:0012072	Aciduria	79783	SUGCT	ORPHA:35706
HP:0012072	Aciduria	79783	SUGCT	OMIM:231690
HP:0012072	Aciduria	2639	GCDH	ORPHA:25
HP:0012072	Aciduria	2639	GCDH	OMIM:231670
HP:0012072	Aciduria	728294	D2HGDH	OMIM:600721
HP:0012072	Aciduria	10861	SLC26A1	OMIM:167030
HP:0012072	Aciduria	189	AGXT	OMIM:259900
HP:0012072	Aciduria	189	AGXT	ORPHA:93598
HP:0012072	Aciduria	9380	GRHPR	OMIM:260000
HP:0012072	Aciduria	9380	GRHPR	ORPHA:93599
HP:0012072	Aciduria	5189	PEX1	OMIM:601539
HP:0012072	Aciduria	112817	HOGA1	OMIM:613616
HP:0012072	Aciduria	112817	HOGA1	ORPHA:93600
HP:0012072	Aciduria	27199	OXGR1	OMIM:620374
HP:0012072	Aciduria	3242	HPD	OMIM:276710
HP:0012072	Aciduria	3242	HPD	OMIM:140350
HP:0012072	Aciduria	3242	HPD	ORPHA:2118
HP:0012072	Aciduria	6898	TAT	OMIM:276600
HP:0012072	Aciduria	7019	TFAM	OMIM:617156
HP:0012072	Aciduria	3158	HMGCS2	OMIM:605911
HP:0012072	Aciduria	197322	ACSF3	ORPHA:289504
HP:0012072	Aciduria	34	ACADM	ORPHA:42
HP:0012072	Aciduria	51241	COX16	OMIM:619355
HP:0012072	Aciduria	37	ACADVL	OMIM:201475
HP:0012072	Aciduria	3033	HADH	OMIM:231530
HP:0012072	Aciduria	3033	HADH	ORPHA:71212
HP:0012072	Aciduria	1374	CPT1A	OMIM:255120
HP:0012072	Aciduria	55065	SLC52A1	OMIM:615026
HP:0012072	Aciduria	788	SLC25A20	OMIM:212138
HP:0012072	Aciduria	788	SLC25A20	ORPHA:159
HP:0012072	Aciduria	54148	MRPL39	OMIM:620646
HP:0012072	Aciduria	28976	ACAD9	OMIM:611126
HP:0012072	Aciduria	28976	ACAD9	ORPHA:99901
HP:0012072	Aciduria	5195	PEX14	OMIM:614887
HP:0012072	Aciduria	1376	CPT2	ORPHA:228308
HP:0012072	Aciduria	27034	ACAD8	ORPHA:79159
HP:0012072	Aciduria	6584	SLC22A5	OMIM:212140
HP:0012072	Aciduria	23474	ETHE1	ORPHA:51188
HP:0012072	Aciduria	23474	ETHE1	OMIM:602473
HP:0012072	Aciduria	3329	HSPD1	OMIM:612233
HP:0012072	Aciduria	35	ACADS	OMIM:201470
HP:0012072	Aciduria	35	ACADS	ORPHA:26792
HP:0012072	Aciduria	9997	SCO2	OMIM:604377
HP:0012072	Aciduria	55687	TRMU	OMIM:613070
HP:0012072	Aciduria	26235	FBXL4	OMIM:615471
HP:0012072	Aciduria	197257	LDHD	OMIM:245450
HP:0012072	Aciduria	4704	NDUFA9	OMIM:618247
HP:0012072	Aciduria	57128	LYRM4	OMIM:615595
HP:0012072	Aciduria	4724	NDUFS4	OMIM:252010
HP:0012072	Aciduria	763	CA5A	OMIM:615751
HP:0012072	Aciduria	4358	MPV17	OMIM:256810
HP:0012072	Aciduria	54704	PDP1	ORPHA:79246
HP:0012072	Aciduria	91647	ATPAF2	OMIM:604273
HP:0012072	Aciduria	8802	SUCLG1	OMIM:245400
HP:0012072	Aciduria	100303755	PET117	OMIM:619063
HP:0012072	Aciduria	55863	TMEM126B	OMIM:618250
HP:0012072	Aciduria	4535	MT-ND1	ORPHA:255210
HP:0012072	Aciduria	4536	MT-ND2	ORPHA:255210
HP:0012072	Aciduria	4537	MT-ND3	ORPHA:255210
HP:0012072	Aciduria	4538	MT-ND4	ORPHA:255210
HP:0012072	Aciduria	4567	MT-TL1	ORPHA:255210
HP:0012072	Aciduria	4578	MT-TW	ORPHA:255210
HP:0012072	Aciduria	4577	MT-TV	ORPHA:255210
HP:0012072	Aciduria	4508	MT-ATP6	ORPHA:255210
HP:0012072	Aciduria	4540	MT-ND5	ORPHA:255210
HP:0012072	Aciduria	4541	MT-ND6	ORPHA:255210
HP:0012072	Aciduria	4566	MT-TK	ORPHA:255210
HP:0012072	Aciduria	27247	NFU1	OMIM:605711
HP:0012072	Aciduria	4716	NDUFB10	OMIM:619003
HP:0012072	Aciduria	51601	LIPT1	OMIM:616299
HP:0012072	Aciduria	9054	NFS1	OMIM:619386
HP:0012072	Aciduria	6392	SDHD	OMIM:619167
HP:0012072	Aciduria	132001	TAMM41	OMIM:620139
HP:0012072	Aciduria	89874	SLC25A21	OMIM:618811
HP:0012072	Aciduria	617	BCS1L	OMIM:124000
HP:0012072	Aciduria	79736	TEFM	OMIM:620451
HP:0012072	Aciduria	23095	KIF1B	OMIM:256700
HP:0012072	Aciduria	6571	SLC18A2	OMIM:618049
HP:0012072	Aciduria	4613	MYCN	ORPHA:635
HP:0012072	Aciduria	238	ALK	ORPHA:635
HP:0012072	Aciduria	389421	LIN28B	ORPHA:635
HP:0012072	Aciduria	4004	LMO1	ORPHA:635
HP:0012072	Aciduria	57531	HACE1	ORPHA:635
HP:0012072	Aciduria	8929	PHOX2B	ORPHA:635
HP:0012072	Aciduria	5979	RET	OMIM:171400
HP:0012072	Aciduria	5428	POLG	OMIM:203700
HP:0012072	Aciduria	51116	MRPS2	OMIM:617950
HP:0012072	Aciduria	119559	SFXN4	OMIM:615578
HP:0012072	Aciduria	25974	MMACHC	ORPHA:79282
HP:0012072	Aciduria	25974	MMACHC	OMIM:277400
HP:0012072	Aciduria	3054	HCFC1	OMIM:309541
HP:0012072	Aciduria	23417	MLYCD	OMIM:248360
HP:0012072	Aciduria	4329	ALDH6A1	OMIM:614105
HP:0012072	Aciduria	6948	TCN2	OMIM:275350
HP:0012072	Aciduria	6948	TCN2	ORPHA:859
HP:0012072	Aciduria	55788	LMBRD1	ORPHA:79284
HP:0012072	Aciduria	55788	LMBRD1	OMIM:277380
HP:0012072	Aciduria	27249	MMADHC	OMIM:277410
HP:0012072	Aciduria	4594	MMUT	OMIM:251000
HP:0012072	Aciduria	84693	MCEE	OMIM:251120
HP:0012072	Aciduria	4552	MTRR	OMIM:236270
HP:0012072	Aciduria	8803	SUCLA2	OMIM:612073
HP:0012072	Aciduria	8803	SUCLA2	ORPHA:1933
HP:0012072	Aciduria	51293	CD320	OMIM:613646
HP:0012072	Aciduria	5826	ABCD4	OMIM:614857
HP:0012072	Aciduria	4548	MTR	OMIM:250940
HP:0012072	Aciduria	326625	MMAB	OMIM:251110
HP:0012072	Aciduria	5052	PRDX1	OMIM:277400
HP:0012072	Aciduria	5498	PPOX	OMIM:176200
HP:0012072	Aciduria	5498	PPOX	ORPHA:79473
HP:0012072	Aciduria	1371	CPOX	ORPHA:79273
HP:0012072	Aciduria	1371	CPOX	OMIM:121300
HP:0012072	Aciduria	1371	CPOX	OMIM:618892
HP:0012072	Aciduria	210	ALAD	ORPHA:100924
HP:0012072	Aciduria	3145	HMBS	ORPHA:79276
HP:0012072	Aciduria	7390	UROS	ORPHA:79277
HP:0012072	Aciduria	2623	GATA1	ORPHA:79277
HP:0012072	Aciduria	131669	UROC1	OMIM:276880
HP:0012072	Aciduria	131669	UROC1	ORPHA:210128
HP:0012072	Aciduria	3418	IDH2	OMIM:613657
HP:0012072	Aciduria	3417	IDH1	ORPHA:99646
HP:0012072	Aciduria	54914	FOCAD	OMIM:619991
HP:0012072	Aciduria	2110	ETFDH	OMIM:231680
HP:0012072	Aciduria	2108	ETFA	OMIM:231680
HP:0012072	Aciduria	2109	ETFB	OMIM:231680
HP:0012072	Aciduria	51117	COQ4	OMIM:616276
HP:0012072	Aciduria	7915	ALDH5A1	OMIM:271980
HP:0012072	Aciduria	4598	MVK	OMIM:260920
HP:0012072	Aciduria	4598	MVK	OMIM:610377
HP:0012072	Aciduria	2271	FH	OMIM:606812
HP:0012072	Aciduria	6341	SCO1	OMIM:619048
HP:0012072	Aciduria	6576	SLC25A1	OMIM:615182
HP:0012072	Aciduria	64849	SLC13A3	OMIM:618384
HP:0012072	Aciduria	3712	IVD	ORPHA:33
HP:0012072	Aciduria	36	ACADSB	OMIM:610006
HP:0012072	Aciduria	3081	HGD	ORPHA:56
HP:0012072	Aciduria	3081	HGD	OMIM:203500
HP:0012072	Aciduria	5053	PAH	OMIM:261600
HP:0012072	Aciduria	55526	DHTKD1	OMIM:204750
HP:0012072	Aciduria	166785	MMAA	OMIM:251100
HP:0012072	Aciduria	10841	FTCD	OMIM:229100
HP:0012072	Aciduria	79944	L2HGDH	OMIM:236792
HP:0012072	Aciduria	5019	OXCT1	OMIM:245050
HP:0012072	Aciduria	3954	LETM1	OMIM:620089
HP:0012072	Aciduria	8942	KYNU	OMIM:236800
HP:0012072	Aciduria	593	BCKDHA	OMIM:248600
HP:0012072	Aciduria	340024	SLC6A19	OMIM:234500
HP:0012072	Aciduria	2222	FDFT1	OMIM:618156
HP:0012072	Aciduria	1892	ECHS1	OMIM:616277
HP:0012072	Aciduria	51733	UPB1	OMIM:613161
HP:0012072	Aciduria	8659	ALDH4A1	OMIM:239510
HP:0012072	Aciduria	1644	DDC	OMIM:608643
HP:0012073	Abnormal urinary acylglycine profile	3712	IVD	OMIM:243500
HP:0012074	Tonic pupil	9692	PRORP	OMIM:619737
HP:0012074	Tonic pupil	5376	PMP22	ORPHA:90658
HP:0012074	Tonic pupil	4359	MPZ	OMIM:118200
HP:0012075	Personality disorder	57582	KCNT1	OMIM:615005
HP:0012075	Personality disorder	1593	CYP27A1	ORPHA:909
HP:0012075	Personality disorder	51324	SPG21	ORPHA:101001
HP:0012075	Personality disorder	1813	DRD2	ORPHA:36899
HP:0012075	Personality disorder	8910	SGCE	ORPHA:36899
HP:0012075	Personality disorder	79734	KCTD17	ORPHA:36899
HP:0012075	Personality disorder	1861	TOR1A	ORPHA:36899
HP:0012075	Personality disorder	875	CBS	OMIM:236200
HP:0012075	Personality disorder	7504	XK	OMIM:300842
HP:0012075	Personality disorder	1759	DNM1	ORPHA:2382
HP:0012075	Personality disorder	2562	GABRB3	ORPHA:2382
HP:0012075	Personality disorder	5602	MAPK10	ORPHA:2382
HP:0012075	Personality disorder	773	CACNA1A	ORPHA:2382
HP:0012075	Personality disorder	6323	SCN1A	ORPHA:2382
HP:0012075	Personality disorder	23316	CUX2	ORPHA:2382
HP:0012075	Personality disorder	1106	CHD2	ORPHA:2382
HP:0012075	Personality disorder	6095	RORA	OMIM:618060
HP:0012075	Personality disorder	51322	WAC	ORPHA:466950
HP:0012076	Borderline personality disorder	6095	RORA	OMIM:618060
HP:0012076	Borderline personality disorder	51322	WAC	ORPHA:466950
HP:0012078	Motor conduction block	54332	GDAP1	ORPHA:99948
HP:0012078	Motor conduction block	3098	HK1	ORPHA:99953
HP:0012079	Abnormality of central motor conduction	2395	FXN	ORPHA:95
HP:0012079	Abnormality of central motor conduction	5428	POLG	ORPHA:94125
HP:0012079	Abnormality of central motor conduction	126129	CPT1C	OMIM:616282
HP:4000199	Reduced erythrocyte porphobilinogen deaminase activity	3145	HMBS	OMIM:620704
HP:4000199	Reduced erythrocyte porphobilinogen deaminase activity	3145	HMBS	OMIM:176000
HP:4000198	Reduced acetylglucosamine-6-sulfate sulfatase activity in cultured fibroblasts	2799	GNS	OMIM:252940
HP:4000195	Abnormal enzyme activity in cultured fibroblasts	5191	PEX7	OMIM:266500
HP:4000195	Abnormal enzyme activity in cultured fibroblasts	5264	PHYH	OMIM:266500
HP:4000195	Abnormal enzyme activity in cultured fibroblasts	2799	GNS	OMIM:252940
HP:4000195	Abnormal enzyme activity in cultured fibroblasts	3141	HLCS	OMIM:253270
HP:4000195	Abnormal enzyme activity in cultured fibroblasts	4668	NAGA	OMIM:609241
HP:4000195	Abnormal enzyme activity in cultured fibroblasts	38	ACAT1	OMIM:203750
HP:4000195	Abnormal enzyme activity in cultured fibroblasts	56922	MCCC1	OMIM:210200
HP:4000195	Abnormal enzyme activity in cultured fibroblasts	593	BCKDHA	OMIM:248600
HP:4000195	Abnormal enzyme activity in cultured fibroblasts	3712	IVD	OMIM:243500
HP:4000195	Abnormal enzyme activity in cultured fibroblasts	2710	GK	OMIM:307030
HP:4000195	Abnormal enzyme activity in cultured fibroblasts	23600	AMACR	OMIM:614307
HP:4000195	Abnormal enzyme activity in cultured fibroblasts	6309	SC5D	OMIM:607330
HP:4000195	Abnormal enzyme activity in cultured fibroblasts	3155	HMGCL	OMIM:246450
HP:4000195	Abnormal enzyme activity in cultured fibroblasts	4329	ALDH6A1	OMIM:614105
HP:4000195	Abnormal enzyme activity in cultured fibroblasts	443	ASPA	OMIM:271900
HP:4000195	Abnormal enzyme activity in cultured fibroblasts	23417	MLYCD	OMIM:248360
HP:4000195	Abnormal enzyme activity in cultured fibroblasts	875	CBS	OMIM:236200
HP:4000195	Abnormal enzyme activity in cultured fibroblasts	5019	OXCT1	OMIM:245050
HP:4000195	Abnormal enzyme activity in cultured fibroblasts	8443	GNPAT	OMIM:222765
HP:4000195	Abnormal enzyme activity in cultured fibroblasts	8540	AGPS	OMIM:600121
HP:4000195	Abnormal enzyme activity in cultured fibroblasts	6697	SPR	OMIM:612716
HP:4000195	Abnormal enzyme activity in cultured fibroblasts	4952	OCRL	OMIM:309000
HP:4000195	Abnormal enzyme activity in cultured fibroblasts	5105	PCK1	OMIM:261680
HP:4000195	Abnormal enzyme activity in cultured fibroblasts	80270	HSD3B7	OMIM:607765
HP:4000195	Abnormal enzyme activity in cultured fibroblasts	5351	PLOD1	OMIM:225400
HP:4000195	Abnormal enzyme activity in cultured fibroblasts	387787	LIPT2	OMIM:617668
HP:4000195	Abnormal enzyme activity in cultured fibroblasts	200205	IBA57	OMIM:615330
HP:4000195	Abnormal enzyme activity in cultured fibroblasts	9469	CHST3	OMIM:143095
HP:4000195	Abnormal enzyme activity in cultured fibroblasts	3030	HADHA	OMIM:609015
HP:4000193	Reduced leukocyte N-sulfoglucosamine sulfohydrolase activity	6448	SGSH	OMIM:252900
HP:4000194	Pseudohyperkalemia	6521	SLC4A1	OMIM:185020
HP:4000190	Reduced leukocyte alpha-mannosidase activity	4125	MAN2B1	OMIM:248500
HP:0012081	Enlarged cerebellum	9839	ZEB2	ORPHA:261537
HP:0012081	Enlarged cerebellum	9839	ZEB2	ORPHA:261552
HP:0012081	Enlarged cerebellum	2261	FGFR3	ORPHA:85165
HP:0012081	Enlarged cerebellum	10015	PDCD6IP	OMIM:620047
HP:0012081	Enlarged cerebellum	3265	HRAS	OMIM:218040
HP:0012081	Enlarged cerebellum	23028	KDM1A	ORPHA:477993
HP:0012081	Enlarged cerebellum	5728	PTEN	ORPHA:65285
HP:0012081	Enlarged cerebellum	29998	BICRA	OMIM:619325
HP:0012082	Cerebellar Purkinje layer atrophy	6311	ATXN2	ORPHA:98756
HP:0012082	Cerebellar Purkinje layer atrophy	6908	TBP	ORPHA:98759
HP:0012083	Ubiquitin-positive cerebral inclusion bodies	2332	FMR1	ORPHA:93256
HP:0012083	Ubiquitin-positive cerebral inclusion bodies	3178	HNRNPA1	ORPHA:52430
HP:0012083	Ubiquitin-positive cerebral inclusion bodies	7415	VCP	ORPHA:52430
HP:0012083	Ubiquitin-positive cerebral inclusion bodies	3181	HNRNPA2B1	ORPHA:52430
HP:0012084	Abnormality of skeletal muscle fiber size	9131	AIFM1	ORPHA:238329
HP:0012084	Abnormality of skeletal muscle fiber size	353116	RILPL1	OMIM:619790
HP:0012084	Abnormality of skeletal muscle fiber size	1291	COL6A1	OMIM:254090
HP:0012084	Abnormality of skeletal muscle fiber size	1291	COL6A1	ORPHA:75840
HP:0012084	Abnormality of skeletal muscle fiber size	57128	LYRM4	OMIM:615595
HP:0012084	Abnormality of skeletal muscle fiber size	79188	TMEM43	OMIM:614302
HP:0012084	Abnormality of skeletal muscle fiber size	9782	MATR3	OMIM:606070
HP:0012084	Abnormality of skeletal muscle fiber size	1305	COL13A1	OMIM:616720
HP:0012084	Abnormality of skeletal muscle fiber size	1410	CRYAB	ORPHA:399058
HP:0012084	Abnormality of skeletal muscle fiber size	9927	MFN2	OMIM:151800
HP:0012084	Abnormality of skeletal muscle fiber size	6606	SMN1	OMIM:271150
HP:0012084	Abnormality of skeletal muscle fiber size	8291	DYSF	OMIM:253601
HP:0012084	Abnormality of skeletal muscle fiber size	7443	VRK1	OMIM:620542
HP:0012084	Abnormality of skeletal muscle fiber size	5428	POLG	OMIM:258450
HP:0012084	Abnormality of skeletal muscle fiber size	5428	POLG	OMIM:157640
HP:0012084	Abnormality of skeletal muscle fiber size	5428	POLG	ORPHA:70595
HP:0012084	Abnormality of skeletal muscle fiber size	5428	POLG	OMIM:607459
HP:0012084	Abnormality of skeletal muscle fiber size	4703	NEB	OMIM:256030
HP:0012084	Abnormality of skeletal muscle fiber size	4703	NEB	ORPHA:171436
HP:0012084	Abnormality of skeletal muscle fiber size	4703	NEB	OMIM:619334
HP:0012084	Abnormality of skeletal muscle fiber size	4703	NEB	ORPHA:171439
HP:0012084	Abnormality of skeletal muscle fiber size	7138	TNNT1	OMIM:620386
HP:0012084	Abnormality of skeletal muscle fiber size	6442	SGCA	OMIM:608099
HP:0012084	Abnormality of skeletal muscle fiber size	1303	COL12A1	ORPHA:75840
HP:0012084	Abnormality of skeletal muscle fiber size	1303	COL12A1	OMIM:616471
HP:0012084	Abnormality of skeletal muscle fiber size	1303	COL12A1	OMIM:616470
HP:0012084	Abnormality of skeletal muscle fiber size	1303	COL12A1	ORPHA:536516
HP:0012084	Abnormality of skeletal muscle fiber size	1293	COL6A3	ORPHA:75840
HP:0012084	Abnormality of skeletal muscle fiber size	9499	MYOT	ORPHA:266
HP:0012084	Abnormality of skeletal muscle fiber size	9499	MYOT	OMIM:609200
HP:0012084	Abnormality of skeletal muscle fiber size	2617	GARS1	OMIM:619042
HP:0012084	Abnormality of skeletal muscle fiber size	54344	DPM3	OMIM:618992
HP:0012084	Abnormality of skeletal muscle fiber size	54344	DPM3	OMIM:612937
HP:0012084	Abnormality of skeletal muscle fiber size	7169	TPM2	ORPHA:171436
HP:0012084	Abnormality of skeletal muscle fiber size	7169	TPM2	ORPHA:171881
HP:0012084	Abnormality of skeletal muscle fiber size	7169	TPM2	ORPHA:171439
HP:0012084	Abnormality of skeletal muscle fiber size	10324	KLHL41	ORPHA:171436
HP:0012084	Abnormality of skeletal muscle fiber size	10324	KLHL41	ORPHA:171439
HP:0012084	Abnormality of skeletal muscle fiber size	56203	LMOD3	ORPHA:171436
HP:0012084	Abnormality of skeletal muscle fiber size	1073	CFL2	ORPHA:171436
HP:0012084	Abnormality of skeletal muscle fiber size	1073	CFL2	OMIM:610687
HP:0012084	Abnormality of skeletal muscle fiber size	91754	NEK9	OMIM:617022
HP:0012084	Abnormality of skeletal muscle fiber size	7273	TTN	ORPHA:178464
HP:0012084	Abnormality of skeletal muscle fiber size	7273	TTN	OMIM:608807
HP:0012084	Abnormality of skeletal muscle fiber size	7273	TTN	ORPHA:609
HP:0012084	Abnormality of skeletal muscle fiber size	7273	TTN	OMIM:603689
HP:0012084	Abnormality of skeletal muscle fiber size	7273	TTN	OMIM:611705
HP:0012084	Abnormality of skeletal muscle fiber size	3714	JAG2	OMIM:619566
HP:0012084	Abnormality of skeletal muscle fiber size	84466	MEGF10	OMIM:614399
HP:0012084	Abnormality of skeletal muscle fiber size	84466	MEGF10	OMIM:620249
HP:0012084	Abnormality of skeletal muscle fiber size	10730	YME1L1	OMIM:617302
HP:0012084	Abnormality of skeletal muscle fiber size	4976	OPA1	OMIM:125250
HP:0012084	Abnormality of skeletal muscle fiber size	6263	RYR3	OMIM:620310
HP:0012084	Abnormality of skeletal muscle fiber size	22954	TRIM32	ORPHA:1878
HP:0012084	Abnormality of skeletal muscle fiber size	22954	TRIM32	OMIM:254110
HP:0012084	Abnormality of skeletal muscle fiber size	7125	TNNC2	OMIM:620161
HP:0012084	Abnormality of skeletal muscle fiber size	1185	CLCN6	OMIM:619173
HP:0012084	Abnormality of skeletal muscle fiber size	57190	SELENON	OMIM:602771
HP:0012084	Abnormality of skeletal muscle fiber size	2273	FHL1	OMIM:300696
HP:0012084	Abnormality of skeletal muscle fiber size	2273	FHL1	OMIM:300718
HP:0012084	Abnormality of skeletal muscle fiber size	2273	FHL1	OMIM:300717
HP:0012084	Abnormality of skeletal muscle fiber size	55154	MSTO1	OMIM:617675
HP:0012084	Abnormality of skeletal muscle fiber size	55154	MSTO1	ORPHA:502423
HP:0012084	Abnormality of skeletal muscle fiber size	8878	SQSTM1	OMIM:617158
HP:0012084	Abnormality of skeletal muscle fiber size	84665	MYPN	ORPHA:171881
HP:0012084	Abnormality of skeletal muscle fiber size	84665	MYPN	ORPHA:171439
HP:0012084	Abnormality of skeletal muscle fiber size	7170	TPM3	ORPHA:171881
HP:0012084	Abnormality of skeletal muscle fiber size	7170	TPM3	ORPHA:171439
HP:0012084	Abnormality of skeletal muscle fiber size	23345	SYNE1	OMIM:618484
HP:0012084	Abnormality of skeletal muscle fiber size	146862	UNC45B	OMIM:619178
HP:0012084	Abnormality of skeletal muscle fiber size	6261	RYR1	OMIM:255320
HP:0012084	Abnormality of skeletal muscle fiber size	6261	RYR1	OMIM:117000
HP:0012084	Abnormality of skeletal muscle fiber size	6261	RYR1	ORPHA:98905
HP:0012084	Abnormality of skeletal muscle fiber size	859	CAV3	OMIM:614321
HP:0012084	Abnormality of skeletal muscle fiber size	859	CAV3	ORPHA:488650
HP:0012084	Abnormality of skeletal muscle fiber size	191	AHCY	OMIM:613752
HP:0012084	Abnormality of skeletal muscle fiber size	311	ANXA11	OMIM:619733
HP:0012084	Abnormality of skeletal muscle fiber size	93627	TBCK	OMIM:616900
HP:0012084	Abnormality of skeletal muscle fiber size	51008	ASCC1	OMIM:616867
HP:0012084	Abnormality of skeletal muscle fiber size	825	CAPN3	OMIM:618129
HP:0012084	Abnormality of skeletal muscle fiber size	57211	ADGRG6	OMIM:616503
HP:0012084	Abnormality of skeletal muscle fiber size	85365	ALG2	OMIM:616228
HP:0012084	Abnormality of skeletal muscle fiber size	9325	TRIP4	OMIM:616866
HP:0012084	Abnormality of skeletal muscle fiber size	9325	TRIP4	OMIM:617066
HP:0012084	Abnormality of skeletal muscle fiber size	9325	TRIP4	ORPHA:486815
HP:0012084	Abnormality of skeletal muscle fiber size	6445	SGCG	OMIM:253700
HP:0012084	Abnormality of skeletal muscle fiber size	6445	SGCG	ORPHA:353
HP:0012084	Abnormality of skeletal muscle fiber size	2218	FKTN	OMIM:611615
HP:0012084	Abnormality of skeletal muscle fiber size	29967	LRP12	OMIM:164310
HP:0012084	Abnormality of skeletal muscle fiber size	4151	MB	OMIM:620286
HP:0012084	Abnormality of skeletal muscle fiber size	10020	GNE	ORPHA:602
HP:0012084	Abnormality of skeletal muscle fiber size	8604	SLC25A12	OMIM:612949
HP:0012084	Abnormality of skeletal muscle fiber size	10049	DNAJB6	ORPHA:34516
HP:0012084	Abnormality of skeletal muscle fiber size	4620	MYH2	OMIM:605637
HP:0012084	Abnormality of skeletal muscle fiber size	10367	MICU1	ORPHA:401768
HP:0012084	Abnormality of skeletal muscle fiber size	8557	TCAP	OMIM:601954
HP:0012084	Abnormality of skeletal muscle fiber size	88	ACTN2	OMIM:618654
HP:0012084	Abnormality of skeletal muscle fiber size	88	ACTN2	OMIM:618655
HP:0012084	Abnormality of skeletal muscle fiber size	4697	NDUFA4	OMIM:619065
HP:0012084	Abnormality of skeletal muscle fiber size	127833	SYT2	OMIM:619461
HP:0012084	Abnormality of skeletal muscle fiber size	8802	SUCLG1	ORPHA:17
HP:0012084	Abnormality of skeletal muscle fiber size	3178	HNRNPA1	OMIM:615424
HP:0012084	Abnormality of skeletal muscle fiber size	3178	HNRNPA1	ORPHA:52430
HP:0012084	Abnormality of skeletal muscle fiber size	3908	LAMA2	OMIM:618138
HP:0012084	Abnormality of skeletal muscle fiber size	4632	MYL1	OMIM:618414
HP:0012084	Abnormality of skeletal muscle fiber size	9997	SCO2	OMIM:604377
HP:0012084	Abnormality of skeletal muscle fiber size	79784	MYH14	ORPHA:397744
HP:0012084	Abnormality of skeletal muscle fiber size	10755	GIPC1	OMIM:618940
HP:0012084	Abnormality of skeletal muscle fiber size	100996717	NOTCH2NLC	OMIM:619473
HP:0012084	Abnormality of skeletal muscle fiber size	4744	NEFH	OMIM:616924
HP:0012084	Abnormality of skeletal muscle fiber size	56652	TWNK	ORPHA:70595
HP:0012084	Abnormality of skeletal muscle fiber size	56652	TWNK	OMIM:607459
HP:0012084	Abnormality of skeletal muscle fiber size	10585	POMT1	ORPHA:86812
HP:0012084	Abnormality of skeletal muscle fiber size	4285	MIPEP	OMIM:617228
HP:0012084	Abnormality of skeletal muscle fiber size	226	ALDOA	OMIM:611881
HP:0012084	Abnormality of skeletal muscle fiber size	1605	DAG1	OMIM:616538
HP:0012084	Abnormality of skeletal muscle fiber size	11149	POPDC1	OMIM:616812
HP:0012084	Abnormality of skeletal muscle fiber size	84033	OBSCN	OMIM:620235
HP:0012084	Abnormality of skeletal muscle fiber size	51244	CCDC174	OMIM:616816
HP:0012084	Abnormality of skeletal muscle fiber size	6329	SCN4A	OMIM:620351
HP:0012084	Abnormality of skeletal muscle fiber size	7415	VCP	ORPHA:52430
HP:0012084	Abnormality of skeletal muscle fiber size	7415	VCP	OMIM:613954
HP:0012084	Abnormality of skeletal muscle fiber size	3181	HNRNPA2B1	ORPHA:52430
HP:0012084	Abnormality of skeletal muscle fiber size	26092	TOR1AIP1	OMIM:617072
HP:0012084	Abnormality of skeletal muscle fiber size	29954	POMT2	OMIM:613150
HP:0012084	Abnormality of skeletal muscle fiber size	3798	KIF5A	OMIM:617235
HP:0012084	Abnormality of skeletal muscle fiber size	339855	KY	OMIM:617114
HP:0012084	Abnormality of skeletal muscle fiber size	5339	PLEC	OMIM:226670
HP:0012084	Abnormality of skeletal muscle fiber size	64208	POPDC3	OMIM:618848
HP:0012084	Abnormality of skeletal muscle fiber size	55624	POMGNT1	OMIM:613157
HP:0012084	Abnormality of skeletal muscle fiber size	5213	PFKM	OMIM:232800
HP:0012084	Abnormality of skeletal muscle fiber size	390594	KBTBD13	ORPHA:171439
HP:0012084	Abnormality of skeletal muscle fiber size	10229	COQ7	OMIM:620402
HP:0012084	Abnormality of skeletal muscle fiber size	844	CASQ1	ORPHA:2593
HP:0012084	Abnormality of skeletal muscle fiber size	84876	ORAI1	ORPHA:2593
HP:0012084	Abnormality of skeletal muscle fiber size	6786	STIM1	ORPHA:2593
HP:0012084	Abnormality of skeletal muscle fiber size	6786	STIM1	OMIM:160565
HP:0012084	Abnormality of skeletal muscle fiber size	779	CACNA1S	OMIM:620246
HP:0012084	Abnormality of skeletal muscle fiber size	1487	CTBP1	OMIM:617915
HP:0012084	Abnormality of skeletal muscle fiber size	23479	ISCU	OMIM:255125
HP:0012084	Abnormality of skeletal muscle fiber size	23676	SMPX	OMIM:301075
HP:0012084	Abnormality of skeletal muscle fiber size	1756	DMD	OMIM:302045
HP:0012084	Abnormality of skeletal muscle fiber size	57505	AARS2	OMIM:614096
HP:0012084	Abnormality of skeletal muscle fiber size	84842	HPDL	OMIM:619026
HP:0012084	Abnormality of skeletal muscle fiber size	51776	MAP3K20	OMIM:617760
HP:0012084	Abnormality of skeletal muscle fiber size	1140	CHRNB1	OMIM:616313
HP:0012084	Abnormality of skeletal muscle fiber size	3679	ITGA7	OMIM:613204
HP:0012084	Abnormality of skeletal muscle fiber size	132001	TAMM41	OMIM:620139
HP:0012084	Abnormality of skeletal muscle fiber size	284119	CAVIN1	OMIM:613327
HP:0012084	Abnormality of skeletal muscle fiber size	90523	MLIP	OMIM:620138
HP:0012084	Abnormality of skeletal muscle fiber size	23224	SYNE2	OMIM:612999
HP:0012084	Abnormality of skeletal muscle fiber size	6443	SGCB	ORPHA:119
HP:0012084	Abnormality of skeletal muscle fiber size	203859	ANO5	ORPHA:206549
HP:0012084	Abnormality of skeletal muscle fiber size	4534	MTM1	ORPHA:596
HP:0012084	Abnormality of skeletal muscle fiber size	4633	MYL2	OMIM:619424
HP:0012084	Abnormality of skeletal muscle fiber size	1292	COL6A2	OMIM:620725
HP:0012084	Abnormality of skeletal muscle fiber size	5468	PPARG	ORPHA:79083
HP:0012084	Abnormality of skeletal muscle fiber size	58	ACTA1	OMIM:620278
HP:0012084	Abnormality of skeletal muscle fiber size	246329	STAC3	ORPHA:168572
HP:0012084	Abnormality of skeletal muscle fiber size	4000	LMNA	ORPHA:2348
HP:0012085	Pyuria	2215	FCGR3B	ORPHA:536
HP:0012085	Pyuria	6775	STAT4	ORPHA:536
HP:0012085	Pyuria	3684	ITGAM	ORPHA:536
HP:0012085	Pyuria	3586	IL10	ORPHA:536
HP:0012085	Pyuria	221895	JAZF1	ORPHA:536
HP:0012085	Pyuria	11277	TREX1	ORPHA:536
HP:0012085	Pyuria	7292	TNFSF4	ORPHA:536
HP:0012085	Pyuria	640	BLK	ORPHA:536
HP:0012085	Pyuria	720	C4A	ORPHA:536
HP:0012085	Pyuria	55024	BANK1	ORPHA:536
HP:0012085	Pyuria	3500	IGHG1	ORPHA:536
HP:0012085	Pyuria	3654	IRAK1	ORPHA:536
HP:0012085	Pyuria	1493	CTLA4	ORPHA:536
HP:0012085	Pyuria	26191	PTPN22	ORPHA:536
HP:0012085	Pyuria	1380	CR2	ORPHA:536
HP:0012085	Pyuria	5133	PDCD1	ORPHA:536
HP:0012085	Pyuria	2113	ETS1	ORPHA:536
HP:0012085	Pyuria	2213	FCGR2B	ORPHA:536
HP:0012085	Pyuria	10318	TNIP1	ORPHA:536
HP:0012085	Pyuria	7332	UBE2L3	ORPHA:536
HP:0012085	Pyuria	79932	KIAA0319L	ORPHA:536
HP:0012085	Pyuria	4204	MECP2	ORPHA:536
HP:0012085	Pyuria	3663	IRF5	ORPHA:536
HP:0012085	Pyuria	3123	HLA-DRB1	ORPHA:536
HP:0012085	Pyuria	721	C4B	ORPHA:536
HP:0012085	Pyuria	1773	DNASE1	ORPHA:536
HP:0012085	Pyuria	51284	TLR7	ORPHA:536
HP:0012085	Pyuria	6696	SPP1	ORPHA:536
HP:0012085	Pyuria	54899	PXK	ORPHA:536
HP:0012085	Pyuria	7128	TNFAIP3	ORPHA:536
HP:0012085	Pyuria	10686	CLDN16	OMIM:248250
HP:0012086	Abnormal urinary color	340024	SLC6A19	ORPHA:2116
HP:0012086	Abnormal urinary color	57393	CLTRN	ORPHA:2116
HP:0012086	Abnormal urinary color	1244	ABCC2	ORPHA:234
HP:0012086	Abnormal urinary color	7248	TSC1	ORPHA:538
HP:0012086	Abnormal urinary color	7249	TSC2	ORPHA:538
HP:0012086	Abnormal urinary color	1756	DMD	ORPHA:98895
HP:0012086	Abnormal urinary color	7390	UROS	OMIM:263700
HP:0012086	Abnormal urinary color	3145	HMBS	OMIM:620704
HP:0012086	Abnormal urinary color	644	BLVRA	OMIM:614156
HP:0012086	Abnormal urinary color	7389	UROD	ORPHA:95159
HP:0012086	Abnormal urinary color	1371	CPOX	OMIM:618892
HP:0012086	Abnormal urinary color	3081	HGD	ORPHA:56
HP:0012086	Abnormal urinary color	3081	HGD	OMIM:203500
HP:0012086	Abnormal urinary color	286410	ATP11C	OMIM:301015
HP:0012086	Abnormal urinary color	79989	IFT56	OMIM:619534
HP:0012086	Abnormal urinary color	4358	MPV17	OMIM:256810
HP:0012086	Abnormal urinary color	5837	PYGM	OMIM:232600
HP:0012086	Abnormal urinary color	5837	PYGM	ORPHA:368
HP:0012086	Abnormal urinary color	84033	OBSCN	ORPHA:99845
HP:0012086	Abnormal urinary color	23175	LPIN1	ORPHA:99845
HP:0012086	Abnormal urinary color	4512	MT-CO1	ORPHA:99845
HP:0012086	Abnormal urinary color	4514	MT-CO3	ORPHA:99845
HP:0012086	Abnormal urinary color	6775	STAT4	ORPHA:93552
HP:0012086	Abnormal urinary color	6696	SPP1	ORPHA:93552
HP:0012086	Abnormal urinary color	6303	SAT1	ORPHA:93552
HP:0012086	Abnormal urinary color	3654	IRAK1	ORPHA:93552
HP:0012086	Abnormal urinary color	6718	AKR1D1	ORPHA:79303
HP:0012086	Abnormal urinary color	1376	CPT2	ORPHA:228302
HP:0012086	Abnormal urinary color	1376	CPT2	ORPHA:228305
HP:0012086	Abnormal urinary color	1376	CPT2	ORPHA:228308
HP:0012086	Abnormal urinary color	2623	GATA1	ORPHA:79277
HP:0012086	Abnormal urinary color	210	ALAD	ORPHA:100924
HP:0012087	Abnormal mitochondrial shape	56947	MFF	ORPHA:485421
HP:0012087	Abnormal mitochondrial shape	5250	SLC25A3	OMIM:610773
HP:0012087	Abnormal mitochondrial shape	8802	SUCLG1	ORPHA:17
HP:0012087	Abnormal mitochondrial shape	2232	FDXR	ORPHA:543470
HP:0012087	Abnormal mitochondrial shape	2271	FH	OMIM:606812
HP:0012087	Abnormal mitochondrial shape	55863	TMEM126B	OMIM:618250
HP:0012087	Abnormal mitochondrial shape	79784	MYH14	ORPHA:397744
HP:0012087	Abnormal mitochondrial shape	57128	LYRM4	OMIM:615595
HP:0012087	Abnormal mitochondrial shape	9453	GGPS1	OMIM:619518
HP:0012087	Abnormal mitochondrial shape	1120	CHKB	OMIM:602541
HP:0012089	Arteritis	10525	HYOU1	OMIM:233600
HP:0012089	Arteritis	7317	UBA1	OMIM:301054
HP:0012089	Arteritis	3593	IL12B	ORPHA:3287
HP:0012089	Arteritis	3106	HLA-B	ORPHA:3287
HP:0012089	Arteritis	6945	MLX	ORPHA:3287
HP:0012090	Abnormal pancreas morphology	9401	RECQL4	OMIM:268400
HP:0012090	Abnormal pancreas morphology	23387	SIK3	OMIM:618162
HP:0012090	Abnormal pancreas morphology	2294	FOXF1	OMIM:265380
HP:0012090	Abnormal pancreas morphology	2294	FOXF1	ORPHA:210122
HP:0012090	Abnormal pancreas morphology	2177	FANCD2	OMIM:227646
HP:0012090	Abnormal pancreas morphology	171023	ASXL1	ORPHA:97297
HP:0012090	Abnormal pancreas morphology	64220	STRA6	ORPHA:2470
HP:0012090	Abnormal pancreas morphology	7477	WNT7B	ORPHA:2470
HP:0012090	Abnormal pancreas morphology	5915	RARB	ORPHA:2470
HP:0012090	Abnormal pancreas morphology	473	RERE	OMIM:616975
HP:0012090	Abnormal pancreas morphology	473	RERE	ORPHA:1606
HP:0012090	Abnormal pancreas morphology	222546	RFX6	OMIM:615710
HP:0012090	Abnormal pancreas morphology	4613	MYCN	OMIM:164280
HP:0012090	Abnormal pancreas morphology	9894	TELO2	ORPHA:488642
HP:0012090	Abnormal pancreas morphology	5590	PRKCZ	ORPHA:1606
HP:0012090	Abnormal pancreas morphology	2563	GABRD	ORPHA:1606
HP:0012090	Abnormal pancreas morphology	23013	SPEN	ORPHA:1606
HP:0012090	Abnormal pancreas morphology	8510	MMP23B	ORPHA:1606
HP:0012090	Abnormal pancreas morphology	7798	LUZP1	ORPHA:1606
HP:0012090	Abnormal pancreas morphology	6497	SKI	ORPHA:1606
HP:0012090	Abnormal pancreas morphology	10630	PDPN	ORPHA:1606
HP:0012090	Abnormal pancreas morphology	3339	HSPG2	ORPHA:1606
HP:0012090	Abnormal pancreas morphology	10277	UBE4B	ORPHA:1606
HP:0012090	Abnormal pancreas morphology	8514	KCNAB2	ORPHA:1606
HP:0012090	Abnormal pancreas morphology	63976	PRDM16	ORPHA:1606
HP:0012090	Abnormal pancreas morphology	54897	CASZ1	ORPHA:1606
HP:0012090	Abnormal pancreas morphology	2313	FLI1	ORPHA:2308
HP:0012090	Abnormal pancreas morphology	26040	SETBP1	ORPHA:798
HP:0012090	Abnormal pancreas morphology	9203	ZMYM3	OMIM:301111
HP:0012090	Abnormal pancreas morphology	7428	VHL	ORPHA:892
HP:0012090	Abnormal pancreas morphology	7428	VHL	OMIM:193300
HP:0012090	Abnormal pancreas morphology	595	CCND1	ORPHA:892
HP:0012090	Abnormal pancreas morphology	595	CCND1	OMIM:193300
HP:0012090	Abnormal pancreas morphology	51726	DNAJB11	ORPHA:730
HP:0012090	Abnormal pancreas morphology	23193	GANAB	ORPHA:730
HP:0012090	Abnormal pancreas morphology	5310	PKD1	ORPHA:730
HP:0012090	Abnormal pancreas morphology	5311	PKD2	ORPHA:730
HP:0012090	Abnormal pancreas morphology	29880	ALG5	ORPHA:730
HP:0012090	Abnormal pancreas morphology	9742	IFT140	ORPHA:730
HP:0012090	Abnormal pancreas morphology	9742	IFT140	OMIM:266920
HP:0012090	Abnormal pancreas morphology	79796	ALG9	ORPHA:730
HP:0012090	Abnormal pancreas morphology	80114	BICC1	ORPHA:730
HP:0012090	Abnormal pancreas morphology	84314	TMEM107	ORPHA:564
HP:0012090	Abnormal pancreas morphology	26123	TCTN3	ORPHA:564
HP:0012090	Abnormal pancreas morphology	79867	TCTN2	ORPHA:564
HP:0012090	Abnormal pancreas morphology	80776	B9D2	ORPHA:564
HP:0012090	Abnormal pancreas morphology	79600	TCTN1	ORPHA:564
HP:0012090	Abnormal pancreas morphology	57096	RPGRIP1	ORPHA:564
HP:0012090	Abnormal pancreas morphology	79848	CSPP1	ORPHA:564
HP:0012090	Abnormal pancreas morphology	80184	CEP290	ORPHA:564
HP:0012090	Abnormal pancreas morphology	51259	TMEM216	ORPHA:564
HP:0012090	Abnormal pancreas morphology	57545	CC2D2A	ORPHA:564
HP:0012090	Abnormal pancreas morphology	79583	TMEM231	ORPHA:564
HP:0012090	Abnormal pancreas morphology	91147	TMEM67	ORPHA:564
HP:0012090	Abnormal pancreas morphology	79770	TXNDC15	ORPHA:564
HP:0012090	Abnormal pancreas morphology	27077	B9D1	ORPHA:564
HP:0012090	Abnormal pancreas morphology	23322	RPGRIP1L	ORPHA:564
HP:0012090	Abnormal pancreas morphology	54903	MKS1	ORPHA:564
HP:0012090	Abnormal pancreas morphology	65062	TMEM237	ORPHA:564
HP:0012090	Abnormal pancreas morphology	27031	NPHP3	OMIM:267010
HP:0012090	Abnormal pancreas morphology	27031	NPHP3	OMIM:208540
HP:0012090	Abnormal pancreas morphology	5314	PKHD1	OMIM:263200
HP:0012090	Abnormal pancreas morphology	5314	PKHD1	ORPHA:731
HP:0012090	Abnormal pancreas morphology	57728	WDR19	OMIM:614377
HP:0012090	Abnormal pancreas morphology	57728	WDR19	OMIM:616307
HP:0012090	Abnormal pancreas morphology	169792	GLIS3	OMIM:610199
HP:0012090	Abnormal pancreas morphology	8481	OFD1	OMIM:311200
HP:0012090	Abnormal pancreas morphology	8481	OFD1	ORPHA:2750
HP:0012090	Abnormal pancreas morphology	63929	XPNPEP3	OMIM:613159
HP:0012090	Abnormal pancreas morphology	9939	RBM8A	OMIM:274000
HP:0012090	Abnormal pancreas morphology	199221	DZIP1L	ORPHA:731
HP:0012090	Abnormal pancreas morphology	2627	GATA6	OMIM:600001
HP:0012090	Abnormal pancreas morphology	2627	GATA6	ORPHA:2255
HP:0012090	Abnormal pancreas morphology	8462	KLF11	ORPHA:552
HP:0012090	Abnormal pancreas morphology	2645	GCK	ORPHA:552
HP:0012090	Abnormal pancreas morphology	2645	GCK	ORPHA:99885
HP:0012090	Abnormal pancreas morphology	26060	APPL1	ORPHA:552
HP:0012090	Abnormal pancreas morphology	640	BLK	ORPHA:552
HP:0012090	Abnormal pancreas morphology	1056	CEL	ORPHA:552
HP:0012090	Abnormal pancreas morphology	4760	NEUROD1	ORPHA:552
HP:0012090	Abnormal pancreas morphology	3651	PDX1	ORPHA:552
HP:0012090	Abnormal pancreas morphology	3651	PDX1	OMIM:260370
HP:0012090	Abnormal pancreas morphology	3651	PDX1	ORPHA:99885
HP:0012090	Abnormal pancreas morphology	6833	ABCC8	ORPHA:552
HP:0012090	Abnormal pancreas morphology	6833	ABCC8	ORPHA:99885
HP:0012090	Abnormal pancreas morphology	5078	PAX4	ORPHA:552
HP:0012090	Abnormal pancreas morphology	3172	HNF4A	ORPHA:552
HP:0012090	Abnormal pancreas morphology	6927	HNF1A	ORPHA:552
HP:0012090	Abnormal pancreas morphology	3630	INS	ORPHA:552
HP:0012090	Abnormal pancreas morphology	3630	INS	ORPHA:99885
HP:0012090	Abnormal pancreas morphology	55315	SLC29A3	OMIM:602782
HP:0012090	Abnormal pancreas morphology	54914	FOCAD	OMIM:619991
HP:0012090	Abnormal pancreas morphology	6774	STAT3	ORPHA:99885
HP:0012090	Abnormal pancreas morphology	51119	SBDS	ORPHA:811
HP:0012090	Abnormal pancreas morphology	1080	CFTR	OMIM:167800
HP:0012090	Abnormal pancreas morphology	11330	CTRC	OMIM:167800
HP:0012090	Abnormal pancreas morphology	5645	PRSS2	OMIM:167800
HP:0012090	Abnormal pancreas morphology	5644	PRSS1	OMIM:167800
HP:0012090	Abnormal pancreas morphology	6690	SPINK1	OMIM:167800
HP:0012090	Abnormal pancreas morphology	55503	TRPV6	ORPHA:676
HP:0012090	Abnormal pancreas morphology	846	CASR	ORPHA:676
HP:0012090	Abnormal pancreas morphology	1357	CPA1	ORPHA:676
HP:0012090	Abnormal pancreas morphology	5167	ENPP1	ORPHA:51608
HP:0012090	Abnormal pancreas morphology	368	ABCC6	ORPHA:51608
HP:0012090	Abnormal pancreas morphology	79631	EFL1	OMIM:617941
HP:0012090	Abnormal pancreas morphology	51651	PTRH2	ORPHA:456312
HP:0012090	Abnormal pancreas morphology	134218	DNAJC21	OMIM:617052
HP:0012090	Abnormal pancreas morphology	1028	CDKN1C	OMIM:130650
HP:0012090	Abnormal pancreas morphology	3481	IGF2	OMIM:130650
HP:0012090	Abnormal pancreas morphology	3784	KCNQ1	OMIM:130650
HP:0012090	Abnormal pancreas morphology	10984	KCNQ1OT1	OMIM:130650
HP:0012090	Abnormal pancreas morphology	1356	CP	ORPHA:48818
HP:0012090	Abnormal pancreas morphology	129563	DIS3L2	ORPHA:2849
HP:0012090	Abnormal pancreas morphology	2317	FLNB	ORPHA:1190
HP:0012090	Abnormal pancreas morphology	3767	KCNJ11	OMIM:601820
HP:0012090	Abnormal pancreas morphology	55112	DYNC2I1	OMIM:615503
HP:0012090	Abnormal pancreas morphology	2542	SLC37A4	OMIM:232220
HP:0012090	Abnormal pancreas morphology	4750	NEK1	OMIM:263520
HP:0012090	Abnormal pancreas morphology	256297	PTF1A	ORPHA:65288
HP:0012090	Abnormal pancreas morphology	23019	CNOT1	ORPHA:556955
HP:0012090	Abnormal pancreas morphology	23019	CNOT1	OMIM:618500
HP:0012090	Abnormal pancreas morphology	3975	LHX1	ORPHA:261265
HP:0012090	Abnormal pancreas morphology	6928	HNF1B	OMIM:137920
HP:0012091	Abnormality of pancreas physiology	4594	MMUT	ORPHA:289916
HP:0012091	Abnormality of pancreas physiology	4594	MMUT	OMIM:251000
HP:0012091	Abnormality of pancreas physiology	4594	MMUT	ORPHA:79312
HP:0012091	Abnormality of pancreas physiology	26160	IFT172	OMIM:619471
HP:0012091	Abnormality of pancreas physiology	875	CBS	ORPHA:394
HP:0012091	Abnormality of pancreas physiology	875	CBS	OMIM:236200
HP:0012091	Abnormality of pancreas physiology	7840	ALMS1	ORPHA:64
HP:0012091	Abnormality of pancreas physiology	9056	SLC7A7	ORPHA:470
HP:0012091	Abnormality of pancreas physiology	9056	SLC7A7	OMIM:222700
HP:0012091	Abnormality of pancreas physiology	593	BCKDHA	OMIM:248600
HP:0012091	Abnormality of pancreas physiology	540	ATP7B	ORPHA:905
HP:0012091	Abnormality of pancreas physiology	1493	CTLA4	ORPHA:900
HP:0012091	Abnormality of pancreas physiology	26191	PTPN22	ORPHA:900
HP:0012091	Abnormality of pancreas physiology	3115	HLA-DPB1	ORPHA:900
HP:0012091	Abnormality of pancreas physiology	5657	PRTN3	ORPHA:900
HP:0012091	Abnormality of pancreas physiology	3113	HLA-DPA1	ORPHA:900
HP:0012091	Abnormality of pancreas physiology	2542	SLC37A4	OMIM:232220
HP:0012091	Abnormality of pancreas physiology	2542	SLC37A4	ORPHA:79259
HP:0012091	Abnormality of pancreas physiology	1080	CFTR	OMIM:167800
HP:0012091	Abnormality of pancreas physiology	1080	CFTR	OMIM:219700
HP:0012091	Abnormality of pancreas physiology	11330	CTRC	OMIM:167800
HP:0012091	Abnormality of pancreas physiology	5645	PRSS2	OMIM:167800
HP:0012091	Abnormality of pancreas physiology	5644	PRSS1	OMIM:167800
HP:0012091	Abnormality of pancreas physiology	6690	SPINK1	OMIM:167800
HP:0012091	Abnormality of pancreas physiology	4210	MEFV	ORPHA:342
HP:0012091	Abnormality of pancreas physiology	4210	MEFV	ORPHA:117
HP:0012091	Abnormality of pancreas physiology	79577	CDC73	ORPHA:143
HP:0012091	Abnormality of pancreas physiology	79577	CDC73	ORPHA:99880
HP:0012091	Abnormality of pancreas physiology	57104	PNPLA2	ORPHA:565612
HP:0012091	Abnormality of pancreas physiology	5244	ABCB4	ORPHA:69663
HP:0012091	Abnormality of pancreas physiology	5244	ABCB4	OMIM:600803
HP:0012091	Abnormality of pancreas physiology	4722	NDUFS3	OMIM:618230
HP:0012091	Abnormality of pancreas physiology	63924	CIDEC	ORPHA:435651
HP:0012091	Abnormality of pancreas physiology	50485	SMARCAL1	ORPHA:1830
HP:0012091	Abnormality of pancreas physiology	50940	PDE11A	OMIM:610475
HP:0012091	Abnormality of pancreas physiology	10165	SLC25A13	OMIM:603471
HP:0012091	Abnormality of pancreas physiology	10165	SLC25A13	ORPHA:247585
HP:0012091	Abnormality of pancreas physiology	4000	LMNA	ORPHA:280365
HP:0012091	Abnormality of pancreas physiology	4000	LMNA	ORPHA:79084
HP:0012091	Abnormality of pancreas physiology	4000	LMNA	OMIM:151660
HP:0012091	Abnormality of pancreas physiology	4000	LMNA	ORPHA:2348
HP:0012091	Abnormality of pancreas physiology	2212	FCGR2A	OMIM:219700
HP:0012091	Abnormality of pancreas physiology	7040	TGFB1	OMIM:219700
HP:0012091	Abnormality of pancreas physiology	3106	HLA-B	ORPHA:36426
HP:0012091	Abnormality of pancreas physiology	3106	HLA-B	ORPHA:117
HP:0012091	Abnormality of pancreas physiology	10320	IKZF1	ORPHA:36426
HP:0012091	Abnormality of pancreas physiology	72	ACTG2	OMIM:155310
HP:0012091	Abnormality of pancreas physiology	2859	GPR35	ORPHA:171
HP:0012091	Abnormality of pancreas physiology	10507	SEMA4D	ORPHA:171
HP:0012091	Abnormality of pancreas physiology	4485	MST1	ORPHA:171
HP:0012091	Abnormality of pancreas physiology	6925	TCF4	ORPHA:171
HP:0012091	Abnormality of pancreas physiology	326	AIRE	OMIM:240300
HP:0012091	Abnormality of pancreas physiology	10273	STUB1	ORPHA:412057
HP:0012091	Abnormality of pancreas physiology	133686	NADK2	ORPHA:431361
HP:0012091	Abnormality of pancreas physiology	2538	G6PC1	OMIM:232200
HP:0012091	Abnormality of pancreas physiology	26007	TKFC	OMIM:618805
HP:0012091	Abnormality of pancreas physiology	4358	MPV17	OMIM:256810
HP:0012091	Abnormality of pancreas physiology	5468	PPARG	ORPHA:79083
HP:0012091	Abnormality of pancreas physiology	5095	PCCA	OMIM:606054
HP:0012091	Abnormality of pancreas physiology	5096	PCCB	OMIM:606054
HP:0012091	Abnormality of pancreas physiology	5205	ATP8B1	OMIM:243300
HP:0012091	Abnormality of pancreas physiology	2778	GNAS	ORPHA:562
HP:0012091	Abnormality of pancreas physiology	1175	AP2S1	OMIM:600740
HP:0012091	Abnormality of pancreas physiology	9054	NFS1	OMIM:619386
HP:0012091	Abnormality of pancreas physiology	64788	LMF1	OMIM:246650
HP:0012091	Abnormality of pancreas physiology	344	APOC2	OMIM:207750
HP:0012091	Abnormality of pancreas physiology	846	CASR	OMIM:145980
HP:0012091	Abnormality of pancreas physiology	2767	GNA11	OMIM:145981
HP:0012091	Abnormality of pancreas physiology	7388	UQCRH	OMIM:620137
HP:0012091	Abnormality of pancreas physiology	78987	CRELD1	OMIM:620771
HP:0012091	Abnormality of pancreas physiology	338328	GPIHBP1	OMIM:615947
HP:0012091	Abnormality of pancreas physiology	2313	FLI1	ORPHA:370348
HP:0012091	Abnormality of pancreas physiology	90952	ESAM	OMIM:620371
HP:0012091	Abnormality of pancreas physiology	149233	IL23R	ORPHA:117
HP:0012091	Abnormality of pancreas physiology	6775	STAT4	ORPHA:117
HP:0012091	Abnormality of pancreas physiology	3586	IL10	ORPHA:117
HP:0012091	Abnormality of pancreas physiology	1230	CCR1	ORPHA:117
HP:0012091	Abnormality of pancreas physiology	355	FAS	ORPHA:117
HP:0012091	Abnormality of pancreas physiology	3592	IL12A	ORPHA:117
HP:0012091	Abnormality of pancreas physiology	101928376	IL12A-AS1	ORPHA:117
HP:0012091	Abnormality of pancreas physiology	7099	TLR4	ORPHA:117
HP:0012091	Abnormality of pancreas physiology	3459	IFNGR1	ORPHA:117
HP:0012091	Abnormality of pancreas physiology	720	C4A	ORPHA:117
HP:0012091	Abnormality of pancreas physiology	337867	UBAC2	ORPHA:117
HP:0012091	Abnormality of pancreas physiology	51752	ERAP1	ORPHA:117
HP:0012091	Abnormality of pancreas physiology	8302	KLRC4	ORPHA:117
HP:0012091	Abnormality of pancreas physiology	3155	HMGCL	ORPHA:20
HP:0012091	Abnormality of pancreas physiology	3712	IVD	ORPHA:33
HP:0012091	Abnormality of pancreas physiology	100147744	RNU7-1	OMIM:619487
HP:0012091	Abnormality of pancreas physiology	286053	NSMCE2	OMIM:617253
HP:0012091	Abnormality of pancreas physiology	26580	BSCL2	OMIM:269700
HP:0012091	Abnormality of pancreas physiology	79415	CYBC1	OMIM:618935
HP:0012091	Abnormality of pancreas physiology	4023	LPL	OMIM:238600
HP:0012091	Abnormality of pancreas physiology	348	APOE	ORPHA:412
HP:0012091	Abnormality of pancreas physiology	10555	AGPAT2	OMIM:608594
HP:0012091	Abnormality of pancreas physiology	3767	KCNJ11	ORPHA:552
HP:0012091	Abnormality of pancreas physiology	8462	KLF11	ORPHA:552
HP:0012091	Abnormality of pancreas physiology	2645	GCK	ORPHA:552
HP:0012091	Abnormality of pancreas physiology	26060	APPL1	ORPHA:552
HP:0012091	Abnormality of pancreas physiology	640	BLK	ORPHA:552
HP:0012091	Abnormality of pancreas physiology	1056	CEL	ORPHA:552
HP:0012091	Abnormality of pancreas physiology	1056	CEL	OMIM:609812
HP:0012091	Abnormality of pancreas physiology	4760	NEUROD1	ORPHA:552
HP:0012091	Abnormality of pancreas physiology	3651	PDX1	ORPHA:552
HP:0012091	Abnormality of pancreas physiology	3651	PDX1	OMIM:260370
HP:0012091	Abnormality of pancreas physiology	6833	ABCC8	ORPHA:552
HP:0012091	Abnormality of pancreas physiology	5078	PAX4	ORPHA:552
HP:0012091	Abnormality of pancreas physiology	3172	HNF4A	ORPHA:552
HP:0012091	Abnormality of pancreas physiology	6927	HNF1A	ORPHA:552
HP:0012091	Abnormality of pancreas physiology	3630	INS	ORPHA:552
HP:0012091	Abnormality of pancreas physiology	170302	ARX	ORPHA:452
HP:0012091	Abnormality of pancreas physiology	22827	PUF60	ORPHA:508498
HP:0012091	Abnormality of pancreas physiology	22827	PUF60	ORPHA:508488
HP:0012091	Abnormality of pancreas physiology	1497	CTNS	OMIM:219800
HP:0012091	Abnormality of pancreas physiology	51651	PTRH2	OMIM:616263
HP:0012091	Abnormality of pancreas physiology	51651	PTRH2	ORPHA:456312
HP:0012091	Abnormality of pancreas physiology	134218	DNAJC21	OMIM:617052
HP:0012091	Abnormality of pancreas physiology	134218	DNAJC21	OMIM:260400
HP:0012091	Abnormality of pancreas physiology	134218	DNAJC21	ORPHA:811
HP:0012091	Abnormality of pancreas physiology	23019	CNOT1	OMIM:618500
HP:0012091	Abnormality of pancreas physiology	537	ATP6AP1	OMIM:300972
HP:0012091	Abnormality of pancreas physiology	54914	FOCAD	OMIM:619991
HP:0012091	Abnormality of pancreas physiology	7468	NSD2	OMIM:619695
HP:0012091	Abnormality of pancreas physiology	8565	YARS1	OMIM:619418
HP:0012091	Abnormality of pancreas physiology	6774	STAT3	OMIM:615952
HP:0012091	Abnormality of pancreas physiology	2627	GATA6	ORPHA:2255
HP:0012091	Abnormality of pancreas physiology	5557	PRIM1	OMIM:620005
HP:0012091	Abnormality of pancreas physiology	256297	PTF1A	OMIM:615935
HP:0012091	Abnormality of pancreas physiology	8481	OFD1	ORPHA:2750
HP:0012091	Abnormality of pancreas physiology	9451	EIF2AK3	ORPHA:1667
HP:0012091	Abnormality of pancreas physiology	197131	UBR1	ORPHA:2315
HP:0012091	Abnormality of pancreas physiology	197131	UBR1	OMIM:243800
HP:0012091	Abnormality of pancreas physiology	6804	STX1A	ORPHA:586
HP:0012091	Abnormality of pancreas physiology	2947	GSTM3	ORPHA:586
HP:0012091	Abnormality of pancreas physiology	2729	GCLC	ORPHA:586
HP:0012091	Abnormality of pancreas physiology	1084	CEACAM3	ORPHA:586
HP:0012091	Abnormality of pancreas physiology	6556	SLC11A1	ORPHA:586
HP:0012091	Abnormality of pancreas physiology	51164	DCTN4	ORPHA:586
HP:0012091	Abnormality of pancreas physiology	3783	KCNN4	ORPHA:586
HP:0012091	Abnormality of pancreas physiology	4282	MIF	ORPHA:586
HP:0012091	Abnormality of pancreas physiology	1909	EDNRA	ORPHA:586
HP:0012091	Abnormality of pancreas physiology	6550	SLC9A3	ORPHA:586
HP:0012091	Abnormality of pancreas physiology	3162	HMOX1	ORPHA:586
HP:0012091	Abnormality of pancreas physiology	115019	SLC26A9	ORPHA:586
HP:0012091	Abnormality of pancreas physiology	3077	HFE	ORPHA:586
HP:0012091	Abnormality of pancreas physiology	11254	SLC6A14	ORPHA:586
HP:0012091	Abnormality of pancreas physiology	5265	SERPINA1	ORPHA:586
HP:0012091	Abnormality of pancreas physiology	22802	CLCA4	ORPHA:586
HP:0012091	Abnormality of pancreas physiology	4680	CEACAM6	ORPHA:586
HP:0012091	Abnormality of pancreas physiology	8567	MADD	OMIM:619004
HP:0012091	Abnormality of pancreas physiology	6729	SRP54	OMIM:618752
HP:0012091	Abnormality of pancreas physiology	6729	SRP54	OMIM:260400
HP:0012091	Abnormality of pancreas physiology	51119	SBDS	OMIM:260400
HP:0012091	Abnormality of pancreas physiology	51119	SBDS	ORPHA:811
HP:0012091	Abnormality of pancreas physiology	79631	EFL1	OMIM:617941
HP:0012091	Abnormality of pancreas physiology	79631	EFL1	ORPHA:811
HP:0012091	Abnormality of pancreas physiology	672	BRCA1	ORPHA:1333
HP:0012091	Abnormality of pancreas physiology	285282	RABL3	ORPHA:1333
HP:0012091	Abnormality of pancreas physiology	7157	TP53	ORPHA:1333
HP:0012091	Abnormality of pancreas physiology	675	BRCA2	ORPHA:1333
HP:0012091	Abnormality of pancreas physiology	3845	KRAS	ORPHA:1333
HP:0012091	Abnormality of pancreas physiology	1029	CDKN2A	ORPHA:1333
HP:0012091	Abnormality of pancreas physiology	79728	PALB2	ORPHA:1333
HP:0012091	Abnormality of pancreas physiology	4089	SMAD4	ORPHA:1333
HP:0012091	Abnormality of pancreas physiology	23022	PALLD	ORPHA:1333
HP:0012091	Abnormality of pancreas physiology	57570	TRMT5	OMIM:616539
HP:0012091	Abnormality of pancreas physiology	182	JAG1	OMIM:118450
HP:0012091	Abnormality of pancreas physiology	84701	COX4I2	OMIM:612714
HP:0012091	Abnormality of pancreas physiology	3930	LBR	OMIM:215140
HP:0012091	Abnormality of pancreas physiology	6566	SLC16A1	OMIM:610021
HP:0012091	Abnormality of pancreas physiology	129563	DIS3L2	OMIM:267000
HP:0012091	Abnormality of pancreas physiology	2719	GPC3	OMIM:312870
HP:0012091	Abnormality of pancreas physiology	2719	GPC3	ORPHA:373
HP:0012091	Abnormality of pancreas physiology	2239	GPC4	OMIM:312870
HP:0012091	Abnormality of pancreas physiology	2239	GPC4	ORPHA:373
HP:0012091	Abnormality of pancreas physiology	2184	FAH	OMIM:276700
HP:0012091	Abnormality of pancreas physiology	3643	INSR	OMIM:246200
HP:0012091	Abnormality of pancreas physiology	435	ASL	ORPHA:23
HP:0012091	Abnormality of pancreas physiology	63929	XPNPEP3	OMIM:613159
HP:0012091	Abnormality of pancreas physiology	2710	GK	OMIM:307030
HP:0012091	Abnormality of pancreas physiology	4221	MEN1	ORPHA:97279
HP:0012091	Abnormality of pancreas physiology	7528	YY1	ORPHA:97279
HP:0012091	Abnormality of pancreas physiology	2746	GLUD1	OMIM:606762
HP:0012091	Abnormality of pancreas physiology	389692	MAFA	OMIM:147630
HP:0012091	Abnormality of pancreas physiology	7428	VHL	ORPHA:892
HP:0012091	Abnormality of pancreas physiology	595	CCND1	ORPHA:892
HP:0012091	Abnormality of pancreas physiology	1027	CDKN1B	ORPHA:276152
HP:0012091	Abnormality of pancreas physiology	6338	SCNN1B	OMIM:211400
HP:0012091	Abnormality of pancreas physiology	6928	HNF1B	ORPHA:93111
HP:0012091	Abnormality of pancreas physiology	6337	SCNN1A	OMIM:613021
HP:0012091	Abnormality of pancreas physiology	57817	HAMP	ORPHA:79230
HP:0012091	Abnormality of pancreas physiology	148738	HJV	ORPHA:79230
HP:0012091	Abnormality of pancreas physiology	1026	CDKN1A	ORPHA:652
HP:0012091	Abnormality of pancreas physiology	1030	CDKN2B	ORPHA:652
HP:0012091	Abnormality of pancreas physiology	1031	CDKN2C	ORPHA:652
HP:0012091	Abnormality of pancreas physiology	7351	UCP2	ORPHA:276556
HP:0012091	Abnormality of pancreas physiology	857	CAV1	OMIM:606721
HP:0012091	Abnormality of pancreas physiology	4558	MT-TF	ORPHA:550
HP:0012091	Abnormality of pancreas physiology	4572	MT-TQ	ORPHA:550
HP:0012091	Abnormality of pancreas physiology	4512	MT-CO1	ORPHA:550
HP:0012091	Abnormality of pancreas physiology	4513	MT-CO2	ORPHA:550
HP:0012091	Abnormality of pancreas physiology	4514	MT-CO3	ORPHA:550
HP:0012091	Abnormality of pancreas physiology	4578	MT-TW	ORPHA:550
HP:0012091	Abnormality of pancreas physiology	4540	MT-ND5	ORPHA:550
HP:0012091	Abnormality of pancreas physiology	4541	MT-ND6	ORPHA:550
HP:0012091	Abnormality of pancreas physiology	4535	MT-ND1	ORPHA:550
HP:0012091	Abnormality of pancreas physiology	4538	MT-ND4	ORPHA:550
HP:0012091	Abnormality of pancreas physiology	4567	MT-TL1	ORPHA:550
HP:0012091	Abnormality of pancreas physiology	4574	MT-TS1	ORPHA:550
HP:0012091	Abnormality of pancreas physiology	4575	MT-TS2	ORPHA:550
HP:0012091	Abnormality of pancreas physiology	4564	MT-TH	ORPHA:550
HP:0012091	Abnormality of pancreas physiology	2642	GCGR	OMIM:619290
HP:0012091	Abnormality of pancreas physiology	57003	CCDC47	OMIM:618268
HP:0012091	Abnormality of pancreas physiology	55503	TRPV6	ORPHA:676
HP:0012091	Abnormality of pancreas physiology	1357	CPA1	ORPHA:676
HP:0012092	Abnormality of exocrine pancreas physiology	3767	KCNJ11	ORPHA:552
HP:0012092	Abnormality of exocrine pancreas physiology	8462	KLF11	ORPHA:552
HP:0012092	Abnormality of exocrine pancreas physiology	2645	GCK	ORPHA:552
HP:0012092	Abnormality of exocrine pancreas physiology	26060	APPL1	ORPHA:552
HP:0012092	Abnormality of exocrine pancreas physiology	640	BLK	ORPHA:552
HP:0012092	Abnormality of exocrine pancreas physiology	1056	CEL	ORPHA:552
HP:0012092	Abnormality of exocrine pancreas physiology	1056	CEL	OMIM:609812
HP:0012092	Abnormality of exocrine pancreas physiology	4760	NEUROD1	ORPHA:552
HP:0012092	Abnormality of exocrine pancreas physiology	3651	PDX1	ORPHA:552
HP:0012092	Abnormality of exocrine pancreas physiology	3651	PDX1	OMIM:260370
HP:0012092	Abnormality of exocrine pancreas physiology	6833	ABCC8	ORPHA:552
HP:0012092	Abnormality of exocrine pancreas physiology	5078	PAX4	ORPHA:552
HP:0012092	Abnormality of exocrine pancreas physiology	3172	HNF4A	ORPHA:552
HP:0012092	Abnormality of exocrine pancreas physiology	6927	HNF1A	ORPHA:552
HP:0012092	Abnormality of exocrine pancreas physiology	3630	INS	ORPHA:552
HP:0012092	Abnormality of exocrine pancreas physiology	170302	ARX	ORPHA:452
HP:0012092	Abnormality of exocrine pancreas physiology	22827	PUF60	ORPHA:508498
HP:0012092	Abnormality of exocrine pancreas physiology	22827	PUF60	ORPHA:508488
HP:0012092	Abnormality of exocrine pancreas physiology	1497	CTNS	OMIM:219800
HP:0012092	Abnormality of exocrine pancreas physiology	2212	FCGR2A	OMIM:219700
HP:0012092	Abnormality of exocrine pancreas physiology	7040	TGFB1	OMIM:219700
HP:0012092	Abnormality of exocrine pancreas physiology	7040	TGFB1	ORPHA:586
HP:0012092	Abnormality of exocrine pancreas physiology	51651	PTRH2	OMIM:616263
HP:0012092	Abnormality of exocrine pancreas physiology	51651	PTRH2	ORPHA:456312
HP:0012092	Abnormality of exocrine pancreas physiology	57003	CCDC47	OMIM:618268
HP:0012092	Abnormality of exocrine pancreas physiology	134218	DNAJC21	OMIM:617052
HP:0012092	Abnormality of exocrine pancreas physiology	134218	DNAJC21	OMIM:260400
HP:0012092	Abnormality of exocrine pancreas physiology	134218	DNAJC21	ORPHA:811
HP:0012092	Abnormality of exocrine pancreas physiology	23019	CNOT1	OMIM:618500
HP:0012092	Abnormality of exocrine pancreas physiology	537	ATP6AP1	OMIM:300972
HP:0012092	Abnormality of exocrine pancreas physiology	54914	FOCAD	OMIM:619991
HP:0012092	Abnormality of exocrine pancreas physiology	7468	NSD2	OMIM:619695
HP:0012092	Abnormality of exocrine pancreas physiology	8565	YARS1	OMIM:619418
HP:0012092	Abnormality of exocrine pancreas physiology	6774	STAT3	OMIM:615952
HP:0012092	Abnormality of exocrine pancreas physiology	2627	GATA6	ORPHA:2255
HP:0012092	Abnormality of exocrine pancreas physiology	5557	PRIM1	OMIM:620005
HP:0012092	Abnormality of exocrine pancreas physiology	256297	PTF1A	OMIM:615935
HP:0012092	Abnormality of exocrine pancreas physiology	8481	OFD1	ORPHA:2750
HP:0012092	Abnormality of exocrine pancreas physiology	9451	EIF2AK3	ORPHA:1667
HP:0012092	Abnormality of exocrine pancreas physiology	11330	CTRC	OMIM:167800
HP:0012092	Abnormality of exocrine pancreas physiology	5645	PRSS2	OMIM:167800
HP:0012092	Abnormality of exocrine pancreas physiology	5644	PRSS1	OMIM:167800
HP:0012092	Abnormality of exocrine pancreas physiology	6690	SPINK1	OMIM:167800
HP:0012092	Abnormality of exocrine pancreas physiology	197131	UBR1	ORPHA:2315
HP:0012092	Abnormality of exocrine pancreas physiology	197131	UBR1	OMIM:243800
HP:0012092	Abnormality of exocrine pancreas physiology	6804	STX1A	ORPHA:586
HP:0012092	Abnormality of exocrine pancreas physiology	2947	GSTM3	ORPHA:586
HP:0012092	Abnormality of exocrine pancreas physiology	2729	GCLC	ORPHA:586
HP:0012092	Abnormality of exocrine pancreas physiology	1084	CEACAM3	ORPHA:586
HP:0012092	Abnormality of exocrine pancreas physiology	6556	SLC11A1	ORPHA:586
HP:0012092	Abnormality of exocrine pancreas physiology	51164	DCTN4	ORPHA:586
HP:0012092	Abnormality of exocrine pancreas physiology	3783	KCNN4	ORPHA:586
HP:0012092	Abnormality of exocrine pancreas physiology	4282	MIF	ORPHA:586
HP:0012092	Abnormality of exocrine pancreas physiology	1909	EDNRA	ORPHA:586
HP:0012092	Abnormality of exocrine pancreas physiology	6550	SLC9A3	ORPHA:586
HP:0012092	Abnormality of exocrine pancreas physiology	3162	HMOX1	ORPHA:586
HP:0012092	Abnormality of exocrine pancreas physiology	115019	SLC26A9	ORPHA:586
HP:0012092	Abnormality of exocrine pancreas physiology	3077	HFE	ORPHA:586
HP:0012092	Abnormality of exocrine pancreas physiology	11254	SLC6A14	ORPHA:586
HP:0012092	Abnormality of exocrine pancreas physiology	5265	SERPINA1	ORPHA:586
HP:0012092	Abnormality of exocrine pancreas physiology	22802	CLCA4	ORPHA:586
HP:0012092	Abnormality of exocrine pancreas physiology	4680	CEACAM6	ORPHA:586
HP:0012092	Abnormality of exocrine pancreas physiology	8567	MADD	OMIM:619004
HP:0012092	Abnormality of exocrine pancreas physiology	6729	SRP54	OMIM:618752
HP:0012092	Abnormality of exocrine pancreas physiology	6729	SRP54	OMIM:260400
HP:0012092	Abnormality of exocrine pancreas physiology	51119	SBDS	OMIM:260400
HP:0012092	Abnormality of exocrine pancreas physiology	51119	SBDS	ORPHA:811
HP:0012092	Abnormality of exocrine pancreas physiology	79631	EFL1	OMIM:617941
HP:0012092	Abnormality of exocrine pancreas physiology	79631	EFL1	ORPHA:811
HP:0012092	Abnormality of exocrine pancreas physiology	672	BRCA1	ORPHA:1333
HP:0012092	Abnormality of exocrine pancreas physiology	285282	RABL3	ORPHA:1333
HP:0012092	Abnormality of exocrine pancreas physiology	7157	TP53	ORPHA:1333
HP:0012092	Abnormality of exocrine pancreas physiology	675	BRCA2	ORPHA:1333
HP:0012092	Abnormality of exocrine pancreas physiology	3845	KRAS	ORPHA:1333
HP:0012092	Abnormality of exocrine pancreas physiology	1029	CDKN2A	ORPHA:1333
HP:0012092	Abnormality of exocrine pancreas physiology	79728	PALB2	ORPHA:1333
HP:0012092	Abnormality of exocrine pancreas physiology	4089	SMAD4	ORPHA:1333
HP:0012092	Abnormality of exocrine pancreas physiology	23022	PALLD	ORPHA:1333
HP:0012092	Abnormality of exocrine pancreas physiology	57570	TRMT5	OMIM:616539
HP:0012092	Abnormality of exocrine pancreas physiology	182	JAG1	OMIM:118450
HP:0012092	Abnormality of exocrine pancreas physiology	84701	COX4I2	OMIM:612714
HP:0012092	Abnormality of exocrine pancreas physiology	1080	CFTR	OMIM:211400
HP:0012092	Abnormality of exocrine pancreas physiology	6338	SCNN1B	OMIM:211400
HP:0012092	Abnormality of exocrine pancreas physiology	6928	HNF1B	ORPHA:93111
HP:0012092	Abnormality of exocrine pancreas physiology	6337	SCNN1A	OMIM:613021
HP:0012093	Abnormality of endocrine pancreas physiology	3930	LBR	OMIM:215140
HP:0012093	Abnormality of endocrine pancreas physiology	6566	SLC16A1	OMIM:610021
HP:0012093	Abnormality of endocrine pancreas physiology	129563	DIS3L2	OMIM:267000
HP:0012093	Abnormality of endocrine pancreas physiology	3767	KCNJ11	OMIM:601820
HP:0012093	Abnormality of endocrine pancreas physiology	3172	HNF4A	ORPHA:263455
HP:0012093	Abnormality of endocrine pancreas physiology	2719	GPC3	OMIM:312870
HP:0012093	Abnormality of endocrine pancreas physiology	2719	GPC3	ORPHA:373
HP:0012093	Abnormality of endocrine pancreas physiology	2239	GPC4	OMIM:312870
HP:0012093	Abnormality of endocrine pancreas physiology	2239	GPC4	ORPHA:373
HP:0012093	Abnormality of endocrine pancreas physiology	2184	FAH	OMIM:276700
HP:0012093	Abnormality of endocrine pancreas physiology	6833	ABCC8	OMIM:256450
HP:0012093	Abnormality of endocrine pancreas physiology	3643	INSR	OMIM:246200
HP:0012093	Abnormality of endocrine pancreas physiology	6774	STAT3	ORPHA:99885
HP:0012093	Abnormality of endocrine pancreas physiology	2645	GCK	ORPHA:99885
HP:0012093	Abnormality of endocrine pancreas physiology	3651	PDX1	ORPHA:99885
HP:0012093	Abnormality of endocrine pancreas physiology	3630	INS	ORPHA:99885
HP:0012093	Abnormality of endocrine pancreas physiology	9451	EIF2AK3	OMIM:226980
HP:0012093	Abnormality of endocrine pancreas physiology	5078	PAX4	OMIM:612227
HP:0012093	Abnormality of endocrine pancreas physiology	4221	MEN1	ORPHA:97279
HP:0012093	Abnormality of endocrine pancreas physiology	7528	YY1	ORPHA:97279
HP:0012093	Abnormality of endocrine pancreas physiology	2746	GLUD1	OMIM:606762
HP:0012093	Abnormality of endocrine pancreas physiology	389692	MAFA	OMIM:147630
HP:0012093	Abnormality of endocrine pancreas physiology	7428	VHL	ORPHA:892
HP:0012093	Abnormality of endocrine pancreas physiology	595	CCND1	ORPHA:892
HP:0012093	Abnormality of endocrine pancreas physiology	57817	HAMP	ORPHA:79230
HP:0012093	Abnormality of endocrine pancreas physiology	148738	HJV	ORPHA:79230
HP:0012093	Abnormality of endocrine pancreas physiology	6928	HNF1B	ORPHA:93111
HP:0012093	Abnormality of endocrine pancreas physiology	1027	CDKN1B	ORPHA:652
HP:0012093	Abnormality of endocrine pancreas physiology	1027	CDKN1B	ORPHA:276152
HP:0012093	Abnormality of endocrine pancreas physiology	1026	CDKN1A	ORPHA:652
HP:0012093	Abnormality of endocrine pancreas physiology	1030	CDKN2B	ORPHA:652
HP:0012093	Abnormality of endocrine pancreas physiology	1031	CDKN2C	ORPHA:652
HP:0012093	Abnormality of endocrine pancreas physiology	7351	UCP2	ORPHA:276556
HP:0012093	Abnormality of endocrine pancreas physiology	2642	GCGR	OMIM:619290
HP:0012094	Abnormal pancreas size	2627	GATA6	OMIM:600001
HP:0012094	Abnormal pancreas size	2627	GATA6	ORPHA:2255
HP:0012094	Abnormal pancreas size	3767	KCNJ11	ORPHA:552
HP:0012094	Abnormal pancreas size	3767	KCNJ11	ORPHA:99885
HP:0012094	Abnormal pancreas size	8462	KLF11	ORPHA:552
HP:0012094	Abnormal pancreas size	2645	GCK	ORPHA:552
HP:0012094	Abnormal pancreas size	2645	GCK	ORPHA:99885
HP:0012094	Abnormal pancreas size	26060	APPL1	ORPHA:552
HP:0012094	Abnormal pancreas size	640	BLK	ORPHA:552
HP:0012094	Abnormal pancreas size	1056	CEL	ORPHA:552
HP:0012094	Abnormal pancreas size	4760	NEUROD1	ORPHA:552
HP:0012094	Abnormal pancreas size	3651	PDX1	ORPHA:552
HP:0012094	Abnormal pancreas size	3651	PDX1	OMIM:260370
HP:0012094	Abnormal pancreas size	3651	PDX1	ORPHA:99885
HP:0012094	Abnormal pancreas size	6833	ABCC8	ORPHA:552
HP:0012094	Abnormal pancreas size	6833	ABCC8	ORPHA:99885
HP:0012094	Abnormal pancreas size	5078	PAX4	ORPHA:552
HP:0012094	Abnormal pancreas size	3172	HNF4A	ORPHA:552
HP:0012094	Abnormal pancreas size	6927	HNF1A	ORPHA:552
HP:0012094	Abnormal pancreas size	3630	INS	ORPHA:552
HP:0012094	Abnormal pancreas size	3630	INS	ORPHA:99885
HP:0012094	Abnormal pancreas size	55315	SLC29A3	OMIM:602782
HP:0012094	Abnormal pancreas size	54914	FOCAD	OMIM:619991
HP:0012094	Abnormal pancreas size	222546	RFX6	OMIM:615710
HP:0012094	Abnormal pancreas size	169792	GLIS3	OMIM:610199
HP:0012094	Abnormal pancreas size	6774	STAT3	ORPHA:99885
HP:0012094	Abnormal pancreas size	134218	DNAJC21	ORPHA:811
HP:0012094	Abnormal pancreas size	79631	EFL1	ORPHA:811
HP:0012094	Abnormal pancreas size	51119	SBDS	ORPHA:811
HP:0012094	Abnormal pancreas size	1028	CDKN1C	OMIM:130650
HP:0012094	Abnormal pancreas size	3481	IGF2	OMIM:130650
HP:0012094	Abnormal pancreas size	3784	KCNQ1	OMIM:130650
HP:0012094	Abnormal pancreas size	10984	KCNQ1OT1	OMIM:130650
HP:0012094	Abnormal pancreas size	51651	PTRH2	ORPHA:456312
HP:0012094	Abnormal pancreas size	64220	STRA6	ORPHA:2470
HP:0012094	Abnormal pancreas size	7477	WNT7B	ORPHA:2470
HP:0012094	Abnormal pancreas size	5915	RARB	ORPHA:2470
HP:0012094	Abnormal pancreas size	6928	HNF1B	ORPHA:93111
HP:0012094	Abnormal pancreas size	256297	PTF1A	ORPHA:65288
HP:0012094	Abnormal pancreas size	23019	CNOT1	ORPHA:556955
HP:0012094	Abnormal pancreas size	23019	CNOT1	OMIM:618500
HP:0012094	Abnormal pancreas size	3975	LHX1	ORPHA:261265
HP:0012095	Multiple joint dislocation	9469	CHST3	OMIM:245600
HP:0012095	Multiple joint dislocation	26229	B3GAT3	OMIM:245600
HP:0012095	Multiple joint dislocation	3835	KIF22	ORPHA:93360
HP:0012095	Multiple joint dislocation	126792	B3GALT6	ORPHA:536467
HP:0012095	Multiple joint dislocation	7058	THBS2	OMIM:620865
HP:0012095	Multiple joint dislocation	2783	GNB2	OMIM:619503
HP:0012095	Multiple joint dislocation	100151683	RNU4ATAC	OMIM:226960
HP:0012095	Multiple joint dislocation	23233	EXOC6B	OMIM:618395
HP:0012095	Multiple joint dislocation	64412	GZF1	OMIM:617662
HP:0012098	Edema of the dorsum of feet	9373	PLAA	ORPHA:521426
HP:0012098	Edema of the dorsum of feet	9373	PLAA	OMIM:617527
HP:0012098	Edema of the dorsum of feet	7051	TGM1	ORPHA:281127
HP:0012098	Edema of the dorsum of feet	11342	RNF13	ORPHA:544503
HP:0012098	Edema of the dorsum of feet	9939	RBM8A	OMIM:274000
HP:0012098	Edema of the dorsum of feet	9326	ZNHIT3	OMIM:260565
HP:0012099	Abnormality of circulating catecholamine level	7428	VHL	ORPHA:892
HP:0012099	Abnormality of circulating catecholamine level	595	CCND1	ORPHA:892
HP:0012099	Abnormality of circulating catecholamine level	6392	SDHD	OMIM:168000
HP:0012099	Abnormality of circulating catecholamine level	8402	SLC25A11	OMIM:618464
HP:0012099	Abnormality of circulating catecholamine level	4613	MYCN	ORPHA:635
HP:0012099	Abnormality of circulating catecholamine level	238	ALK	ORPHA:635
HP:0012099	Abnormality of circulating catecholamine level	389421	LIN28B	ORPHA:635
HP:0012099	Abnormality of circulating catecholamine level	4004	LMO1	ORPHA:635
HP:0012099	Abnormality of circulating catecholamine level	57531	HACE1	ORPHA:635
HP:0012099	Abnormality of circulating catecholamine level	8929	PHOX2B	ORPHA:635
HP:0012099	Abnormality of circulating catecholamine level	6391	SDHC	OMIM:605373
HP:4000200	Reduced holocarboxylase synthetase activity in cultured fibroblasts	3141	HLCS	OMIM:253270
HP:4000201	Abnormal circulating alpha mannosidase activity	4125	MAN2B1	OMIM:248500
HP:4000202	Reduced tissue alpha-N-acetylgalactosaminidase activity	4668	NAGA	OMIM:609241
HP:4000203	Reduced erythrocyte arginase activity	383	ARG1	OMIM:207800
HP:4000204	Reduced mitochondrial acetyl-CoA acetyltransferase activity in cultured fibroblasts	38	ACAT1	OMIM:203750
HP:4000205	Reduced tissue beta-mannosidase activity	4126	MANBA	OMIM:248510
HP:4000206	Reduced 3-methylcrotonyl CoA carboxylase activity in cultured fibroblasts	56922	MCCC1	OMIM:210200
HP:4000207	Reduced branched-chain alpha-keto acid dehydrogenase activity in cultured fibroblasts	593	BCKDHA	OMIM:248600
HP:4000208	Reduced erythrocyte galactose-1-phosphate uridylyltransferase activity	2592	GALT	OMIM:230400
HP:4000208	Reduced erythrocyte galactose-1-phosphate uridylyltransferase activity	2582	GALE	OMIM:620776
HP:4000209	Abnormal erythrocyte adenosine deaminase activity	6138	RPL15	ORPHA:124
HP:4000209	Abnormal erythrocyte adenosine deaminase activity	6138	RPL15	OMIM:615550
HP:4000209	Abnormal erythrocyte adenosine deaminase activity	6224	RPS20	ORPHA:124
HP:4000209	Abnormal erythrocyte adenosine deaminase activity	6165	RPL35A	ORPHA:124
HP:4000209	Abnormal erythrocyte adenosine deaminase activity	6132	RPL8	ORPHA:124
HP:4000209	Abnormal erythrocyte adenosine deaminase activity	6223	RPS19	ORPHA:124
HP:4000209	Abnormal erythrocyte adenosine deaminase activity	6223	RPS19	OMIM:105650
HP:4000209	Abnormal erythrocyte adenosine deaminase activity	6232	RPS27	ORPHA:124
HP:4000209	Abnormal erythrocyte adenosine deaminase activity	55027	HEATR3	ORPHA:124
HP:4000209	Abnormal erythrocyte adenosine deaminase activity	6160	RPL31	ORPHA:124
HP:4000209	Abnormal erythrocyte adenosine deaminase activity	6201	RPS7	ORPHA:124
HP:4000209	Abnormal erythrocyte adenosine deaminase activity	6155	RPL27	ORPHA:124
HP:4000209	Abnormal erythrocyte adenosine deaminase activity	6234	RPS28	ORPHA:124
HP:4000209	Abnormal erythrocyte adenosine deaminase activity	6135	RPL11	ORPHA:124
HP:4000209	Abnormal erythrocyte adenosine deaminase activity	6229	RPS24	ORPHA:124
HP:4000209	Abnormal erythrocyte adenosine deaminase activity	6229	RPS24	OMIM:610629
HP:4000209	Abnormal erythrocyte adenosine deaminase activity	6125	RPL5	ORPHA:124
HP:4000209	Abnormal erythrocyte adenosine deaminase activity	6204	RPS10	ORPHA:124
HP:4000209	Abnormal erythrocyte adenosine deaminase activity	2623	GATA1	ORPHA:124
HP:4000209	Abnormal erythrocyte adenosine deaminase activity	6133	RPL9	ORPHA:124
HP:4000209	Abnormal erythrocyte adenosine deaminase activity	6231	RPS26	ORPHA:124
HP:4000209	Abnormal erythrocyte adenosine deaminase activity	11224	RPL35	ORPHA:124
HP:4000209	Abnormal erythrocyte adenosine deaminase activity	6218	RPS17	ORPHA:124
HP:4000209	Abnormal erythrocyte adenosine deaminase activity	6154	RPL26	ORPHA:124
HP:4000209	Abnormal erythrocyte adenosine deaminase activity	6210	RPS15A	ORPHA:124
HP:4000209	Abnormal erythrocyte adenosine deaminase activity	90121	TSR2	ORPHA:124
HP:4000209	Abnormal erythrocyte adenosine deaminase activity	90121	TSR2	OMIM:300946
HP:4000209	Abnormal erythrocyte adenosine deaminase activity	6141	RPL18	ORPHA:124
HP:4000209	Abnormal erythrocyte adenosine deaminase activity	6235	RPS29	ORPHA:124
HP:4000209	Abnormal erythrocyte adenosine deaminase activity	6235	RPS29	OMIM:615909
HP:4000209	Abnormal erythrocyte adenosine deaminase activity	51816	ADA2	ORPHA:124
HP:4000209	Abnormal erythrocyte adenosine deaminase activity	100	ADA	OMIM:102700
HP:4000210	Reduced isovaleryl CoA dehydrogenase activity in cultured fibroblasts	3712	IVD	OMIM:243500
HP:4000211	Reduced glycerol kinase activity in cultured fibroblasts	2710	GK	OMIM:307030
HP:0012100	Abnormal circulating creatinine concentration	3043	HBB	ORPHA:232
HP:0012100	Abnormal circulating creatinine concentration	8518	ELP1	OMIM:223900
HP:0012100	Abnormal circulating creatinine concentration	1621	DBH	ORPHA:230
HP:0012100	Abnormal circulating creatinine concentration	116085	SLC22A12	OMIM:220150
HP:0012100	Abnormal circulating creatinine concentration	5311	PKD2	OMIM:613095
HP:0012100	Abnormal circulating creatinine concentration	5311	PKD2	ORPHA:730
HP:0012100	Abnormal circulating creatinine concentration	595	CCND1	ORPHA:29073
HP:0012100	Abnormal circulating creatinine concentration	57545	CC2D2A	OMIM:619111
HP:0012100	Abnormal circulating creatinine concentration	29927	SEC61A1	OMIM:617056
HP:0012100	Abnormal circulating creatinine concentration	29927	SEC61A1	OMIM:620670
HP:0012100	Abnormal circulating creatinine concentration	2321	FLT1	ORPHA:275555
HP:0012100	Abnormal circulating creatinine concentration	219736	STOX1	ORPHA:275555
HP:0012100	Abnormal circulating creatinine concentration	10699	CORIN	ORPHA:275555
HP:0012100	Abnormal circulating creatinine concentration	4179	CD46	OMIM:612922
HP:0012100	Abnormal circulating creatinine concentration	629	CFB	OMIM:612924
HP:0012100	Abnormal circulating creatinine concentration	3426	CFI	OMIM:612923
HP:0012100	Abnormal circulating creatinine concentration	7056	THBD	OMIM:612926
HP:0012100	Abnormal circulating creatinine concentration	718	C3	OMIM:612925
HP:0012100	Abnormal circulating creatinine concentration	4867	NPHP1	OMIM:266900
HP:0012100	Abnormal circulating creatinine concentration	10229	COQ7	OMIM:616733
HP:0012100	Abnormal circulating creatinine concentration	10686	CLDN16	OMIM:248250
HP:0012100	Abnormal circulating creatinine concentration	11093	ADAMTS13	OMIM:274150
HP:0012100	Abnormal circulating creatinine concentration	1962	EHHADH	OMIM:615605
HP:0012100	Abnormal circulating creatinine concentration	1497	CTNS	OMIM:219750
HP:0012100	Abnormal circulating creatinine concentration	1497	CTNS	ORPHA:411634
HP:0012100	Abnormal circulating creatinine concentration	51726	DNAJB11	ORPHA:730
HP:0012100	Abnormal circulating creatinine concentration	23193	GANAB	ORPHA:730
HP:0012100	Abnormal circulating creatinine concentration	5310	PKD1	ORPHA:730
HP:0012100	Abnormal circulating creatinine concentration	29880	ALG5	ORPHA:730
HP:0012100	Abnormal circulating creatinine concentration	9742	IFT140	ORPHA:730
HP:0012100	Abnormal circulating creatinine concentration	79796	ALG9	ORPHA:730
HP:0012100	Abnormal circulating creatinine concentration	80114	BICC1	ORPHA:730
HP:0012100	Abnormal circulating creatinine concentration	1376	CPT2	OMIM:608836
HP:0012100	Abnormal circulating creatinine concentration	7369	UMOD	OMIM:162000
HP:0012100	Abnormal circulating creatinine concentration	79989	IFT56	OMIM:619534
HP:0012100	Abnormal circulating creatinine concentration	51081	MRPS7	OMIM:617872
HP:0012100	Abnormal circulating creatinine concentration	6521	SLC4A1	OMIM:179800
HP:0012100	Abnormal circulating creatinine concentration	6928	HNF1B	OMIM:137920
HP:0012100	Abnormal circulating creatinine concentration	54916	TMEM260	OMIM:617478
HP:0012100	Abnormal circulating creatinine concentration	353	APRT	OMIM:614723
HP:0012100	Abnormal circulating creatinine concentration	6522	SLC4A2	OMIM:620366
HP:0012100	Abnormal circulating creatinine concentration	5076	PAX2	OMIM:120330
HP:0012100	Abnormal circulating creatinine concentration	29071	C1GALT1C1	OMIM:301110
HP:0012100	Abnormal circulating creatinine concentration	11277	TREX1	ORPHA:247691
HP:0012100	Abnormal circulating creatinine concentration	254428	SLC41A1	OMIM:619468
HP:0012100	Abnormal circulating creatinine concentration	51117	COQ4	OMIM:616276
HP:0012100	Abnormal circulating creatinine concentration	57728	WDR19	OMIM:614376
HP:0012100	Abnormal circulating creatinine concentration	90523	MLIP	OMIM:620138
HP:0012100	Abnormal circulating creatinine concentration	4582	MUC1	OMIM:174000
HP:0012100	Abnormal circulating creatinine concentration	79053	ALG8	OMIM:608104
HP:0012100	Abnormal circulating creatinine concentration	3251	HPRT1	ORPHA:79233
HP:0012100	Abnormal circulating creatinine concentration	27130	INVS	OMIM:602088
HP:0012100	Abnormal circulating creatinine concentration	10878	CFHR3	OMIM:235400
HP:0012100	Abnormal circulating creatinine concentration	3075	CFH	OMIM:235400
HP:0012100	Abnormal circulating creatinine concentration	3078	CFHR1	OMIM:235400
HP:0012100	Abnormal circulating creatinine concentration	22909	FAN1	OMIM:614817
HP:0012100	Abnormal circulating creatinine concentration	9380	GRHPR	OMIM:260000
HP:0012100	Abnormal circulating creatinine concentration	4000	LMNA	OMIM:151660
HP:0012100	Abnormal circulating creatinine concentration	4780	NFE2L2	OMIM:617744
HP:0012100	Abnormal circulating creatinine concentration	4907	NT5E	ORPHA:289601
HP:0012100	Abnormal circulating creatinine concentration	2590	GALNT2	OMIM:618885
HP:0012100	Abnormal circulating creatinine concentration	2593	GAMT	OMIM:612736
HP:0012100	Abnormal circulating creatinine concentration	554	AVPR2	OMIM:300539
HP:0012101	Decreased serum creatinine	4780	NFE2L2	OMIM:617744
HP:0012101	Decreased serum creatinine	4907	NT5E	ORPHA:289601
HP:0012101	Decreased serum creatinine	2590	GALNT2	OMIM:618885
HP:0012101	Decreased serum creatinine	2593	GAMT	OMIM:612736
HP:0012101	Decreased serum creatinine	554	AVPR2	OMIM:300539
HP:0012102	Abnormal mitochondrial number	1763	DNA2	ORPHA:352470
HP:0012102	Abnormal mitochondrial number	92667	MGME1	ORPHA:352447
HP:0012102	Abnormal mitochondrial number	119559	SFXN4	OMIM:615578
HP:0012102	Abnormal mitochondrial number	100303755	PET117	OMIM:619063
HP:0012102	Abnormal mitochondrial number	400916	CHCHD10	ORPHA:457050
HP:0012102	Abnormal mitochondrial number	2992	GYG1	ORPHA:263297
HP:0012103	Abnormality of the mitochondrion	1737	DLAT	OMIM:245348
HP:0012103	Abnormality of the mitochondrion	51218	GLRX5	ORPHA:401866
HP:0012103	Abnormality of the mitochondrion	51218	GLRX5	OMIM:616859
HP:0012103	Abnormality of the mitochondrion	8050	PDHX	OMIM:245349
HP:0012103	Abnormality of the mitochondrion	8050	PDHX	ORPHA:255182
HP:0012103	Abnormality of the mitochondrion	5162	PDHB	ORPHA:255138
HP:0012103	Abnormality of the mitochondrion	11019	LIAS	OMIM:614462
HP:0012103	Abnormality of the mitochondrion	1892	ECHS1	OMIM:616277
HP:0012103	Abnormality of the mitochondrion	5160	PDHA1	OMIM:312170
HP:0012103	Abnormality of the mitochondrion	388962	BOLA3	OMIM:614299
HP:0012103	Abnormality of the mitochondrion	54148	MRPL39	OMIM:620646
HP:0012103	Abnormality of the mitochondrion	64116	SLC39A8	ORPHA:468699
HP:0012103	Abnormality of the mitochondrion	54704	PDP1	OMIM:608782
HP:0012103	Abnormality of the mitochondrion	54704	PDP1	ORPHA:79246
HP:0012103	Abnormality of the mitochondrion	2395	FXN	OMIM:229300
HP:0012103	Abnormality of the mitochondrion	1497	CTNS	OMIM:219800
HP:0012103	Abnormality of the mitochondrion	1738	DLD	ORPHA:2394
HP:0012103	Abnormality of the mitochondrion	3155	HMGCL	OMIM:246450
HP:0012103	Abnormality of the mitochondrion	4556	MT-TE	ORPHA:254864
HP:0012103	Abnormality of the mitochondrion	55687	TRMU	ORPHA:254864
HP:0012103	Abnormality of the mitochondrion	37	ACADVL	OMIM:201475
HP:0012103	Abnormality of the mitochondrion	4695	NDUFA2	OMIM:618235
HP:0012103	Abnormality of the mitochondrion	34	ACADM	OMIM:201450
HP:0012103	Abnormality of the mitochondrion	1294	COL7A1	ORPHA:89842
HP:0012103	Abnormality of the mitochondrion	27034	ACAD8	OMIM:611283
HP:0012103	Abnormality of the mitochondrion	27034	ACAD8	ORPHA:79159
HP:0012103	Abnormality of the mitochondrion	133686	NADK2	ORPHA:431361
HP:0012103	Abnormality of the mitochondrion	3033	HADH	ORPHA:71212
HP:0012103	Abnormality of the mitochondrion	28976	ACAD9	ORPHA:99901
HP:0012103	Abnormality of the mitochondrion	64087	MCCC2	OMIM:210210
HP:0012103	Abnormality of the mitochondrion	788	SLC25A20	ORPHA:159
HP:0012103	Abnormality of the mitochondrion	1962	EHHADH	ORPHA:3337
HP:0012103	Abnormality of the mitochondrion	2628	GATM	ORPHA:3337
HP:0012103	Abnormality of the mitochondrion	137682	NDUFAF6	ORPHA:3337
HP:0012103	Abnormality of the mitochondrion	6569	SLC34A1	ORPHA:3337
HP:0012103	Abnormality of the mitochondrion	6584	SLC22A5	OMIM:212140
HP:0012103	Abnormality of the mitochondrion	1786	DNMT1	ORPHA:314404
HP:0012103	Abnormality of the mitochondrion	26275	HIBCH	ORPHA:88639
HP:0012103	Abnormality of the mitochondrion	204	AK2	ORPHA:33355
HP:0012103	Abnormality of the mitochondrion	3028	HSD17B10	ORPHA:391428
HP:0012103	Abnormality of the mitochondrion	1536	CYBB	OMIM:306400
HP:0012103	Abnormality of the mitochondrion	1535	CYBA	OMIM:233690
HP:0012103	Abnormality of the mitochondrion	2110	ETFDH	OMIM:231680
HP:0012103	Abnormality of the mitochondrion	2108	ETFA	OMIM:231680
HP:0012103	Abnormality of the mitochondrion	2109	ETFB	OMIM:231680
HP:0012103	Abnormality of the mitochondrion	6240	RRM1	OMIM:620647
HP:0012103	Abnormality of the mitochondrion	1716	DGUOK	OMIM:251880
HP:0012103	Abnormality of the mitochondrion	23479	ISCU	OMIM:255125
HP:0012103	Abnormality of the mitochondrion	200205	IBA57	ORPHA:468661
HP:0012103	Abnormality of the mitochondrion	200205	IBA57	OMIM:615330
HP:0012103	Abnormality of the mitochondrion	112812	FDX2	OMIM:251900
HP:0012103	Abnormality of the mitochondrion	6390	SDHB	OMIM:619224
HP:0012103	Abnormality of the mitochondrion	51102	MECR	ORPHA:508093
HP:0012103	Abnormality of the mitochondrion	51117	COQ4	OMIM:616276
HP:0012103	Abnormality of the mitochondrion	9054	NFS1	OMIM:619386
HP:0012103	Abnormality of the mitochondrion	6392	SDHD	OMIM:619167
HP:0012103	Abnormality of the mitochondrion	125170	MIEF2	OMIM:619024
HP:0012103	Abnormality of the mitochondrion	54931	TRMT10C	OMIM:616974
HP:0012103	Abnormality of the mitochondrion	84300	UQCC2	OMIM:615824
HP:0012103	Abnormality of the mitochondrion	1376	CPT2	OMIM:608836
HP:0012103	Abnormality of the mitochondrion	1376	CPT2	ORPHA:228305
HP:0012103	Abnormality of the mitochondrion	1376	CPT2	ORPHA:228308
HP:0012103	Abnormality of the mitochondrion	6341	SCO1	OMIM:619048
HP:0012103	Abnormality of the mitochondrion	4568	MT-TL2	ORPHA:663
HP:0012103	Abnormality of the mitochondrion	4567	MT-TL1	ORPHA:663
HP:0012103	Abnormality of the mitochondrion	4567	MT-TL1	ORPHA:550
HP:0012103	Abnormality of the mitochondrion	4570	MT-TN	ORPHA:663
HP:0012103	Abnormality of the mitochondrion	4574	MT-TS1	ORPHA:663
HP:0012103	Abnormality of the mitochondrion	4574	MT-TS1	ORPHA:550
HP:0012103	Abnormality of the mitochondrion	4558	MT-TF	ORPHA:550
HP:0012103	Abnormality of the mitochondrion	4572	MT-TQ	ORPHA:550
HP:0012103	Abnormality of the mitochondrion	4512	MT-CO1	ORPHA:550
HP:0012103	Abnormality of the mitochondrion	4513	MT-CO2	ORPHA:550
HP:0012103	Abnormality of the mitochondrion	4514	MT-CO3	ORPHA:550
HP:0012103	Abnormality of the mitochondrion	4578	MT-TW	ORPHA:550
HP:0012103	Abnormality of the mitochondrion	4540	MT-ND5	ORPHA:550
HP:0012103	Abnormality of the mitochondrion	4541	MT-ND6	ORPHA:550
HP:0012103	Abnormality of the mitochondrion	4535	MT-ND1	ORPHA:550
HP:0012103	Abnormality of the mitochondrion	4535	MT-ND1	ORPHA:2609
HP:0012103	Abnormality of the mitochondrion	4538	MT-ND4	ORPHA:550
HP:0012103	Abnormality of the mitochondrion	4575	MT-TS2	ORPHA:550
HP:0012103	Abnormality of the mitochondrion	4564	MT-TH	ORPHA:550
HP:0012103	Abnormality of the mitochondrion	54539	NDUFB11	ORPHA:2609
HP:0012103	Abnormality of the mitochondrion	25915	NDUFAF3	ORPHA:2609
HP:0012103	Abnormality of the mitochondrion	51103	NDUFAF1	ORPHA:2609
HP:0012103	Abnormality of the mitochondrion	91942	NDUFAF2	ORPHA:2609
HP:0012103	Abnormality of the mitochondrion	51300	TIMMDC1	ORPHA:2609
HP:0012103	Abnormality of the mitochondrion	4716	NDUFB10	ORPHA:2609
HP:0012103	Abnormality of the mitochondrion	4723	NDUFV1	ORPHA:2609
HP:0012103	Abnormality of the mitochondrion	55572	FOXRED1	ORPHA:2609
HP:0012103	Abnormality of the mitochondrion	284184	NDUFAF8	ORPHA:2609
HP:0012103	Abnormality of the mitochondrion	55863	TMEM126B	ORPHA:2609
HP:0012103	Abnormality of the mitochondrion	4537	MT-ND3	ORPHA:2609
HP:0012103	Abnormality of the mitochondrion	4729	NDUFV2	ORPHA:2609
HP:0012103	Abnormality of the mitochondrion	4694	NDUFA1	ORPHA:2609
HP:0012103	Abnormality of the mitochondrion	4720	NDUFS2	ORPHA:2609
HP:0012103	Abnormality of the mitochondrion	4724	NDUFS4	ORPHA:2609
HP:0012103	Abnormality of the mitochondrion	4726	NDUFS6	ORPHA:2609
HP:0012103	Abnormality of the mitochondrion	4728	NDUFS8	ORPHA:2609
HP:0012103	Abnormality of the mitochondrion	4722	NDUFS3	ORPHA:2609
HP:0012103	Abnormality of the mitochondrion	79133	NDUFAF5	ORPHA:2609
HP:0012103	Abnormality of the mitochondrion	126328	NDUFA11	ORPHA:2609
HP:0012103	Abnormality of the mitochondrion	4709	NDUFB3	ORPHA:2609
HP:0012103	Abnormality of the mitochondrion	80224	NUBPL	ORPHA:2609
HP:0012103	Abnormality of the mitochondrion	29078	NDUFAF4	ORPHA:2609
HP:0012103	Abnormality of the mitochondrion	374291	NDUFS7	ORPHA:2609
HP:0012103	Abnormality of the mitochondrion	4700	NDUFA6	ORPHA:2609
HP:0012103	Abnormality of the mitochondrion	4536	MT-ND2	ORPHA:2609
HP:0012103	Abnormality of the mitochondrion	4719	NDUFS1	ORPHA:2609
HP:0012103	Abnormality of the mitochondrion	4715	NDUFB9	ORPHA:2609
HP:0012103	Abnormality of the mitochondrion	4508	MT-ATP6	ORPHA:644
HP:0012103	Abnormality of the mitochondrion	10939	AFG3L2	ORPHA:313772
HP:0012103	Abnormality of the mitochondrion	6389	SDHA	OMIM:252011
HP:0012103	Abnormality of the mitochondrion	4625	MYH7	ORPHA:59135
HP:0012103	Abnormality of the mitochondrion	6687	SPG7	ORPHA:99013
HP:0012103	Abnormality of the mitochondrion	6901	TAFAZZIN	ORPHA:111
HP:0012103	Abnormality of the mitochondrion	6901	TAFAZZIN	OMIM:302060
HP:0012103	Abnormality of the mitochondrion	63931	MRPS14	OMIM:618378
HP:0012103	Abnormality of the mitochondrion	2521	FUS	ORPHA:275872
HP:0012103	Abnormality of the mitochondrion	8878	SQSTM1	ORPHA:275872
HP:0012103	Abnormality of the mitochondrion	7415	VCP	ORPHA:275872
HP:0012103	Abnormality of the mitochondrion	23435	TARDBP	ORPHA:275872
HP:0012103	Abnormality of the mitochondrion	29110	TBK1	ORPHA:275872
HP:0012103	Abnormality of the mitochondrion	400916	CHCHD10	ORPHA:275872
HP:0012103	Abnormality of the mitochondrion	10128	LRPPRC	OMIM:220111
HP:0012103	Abnormality of the mitochondrion	10128	LRPPRC	ORPHA:70472
HP:0012103	Abnormality of the mitochondrion	9997	SCO2	OMIM:604377
HP:0012103	Abnormality of the mitochondrion	51241	COX16	OMIM:619355
HP:0012103	Abnormality of the mitochondrion	80308	FLAD1	OMIM:255100
HP:0012103	Abnormality of the mitochondrion	85476	GFM1	OMIM:609060
HP:0012103	Abnormality of the mitochondrion	123263	MTFMT	OMIM:614947
HP:0012103	Abnormality of the mitochondrion	10102	TSFM	OMIM:610505
HP:0012103	Abnormality of the mitochondrion	57176	VARS2	OMIM:615917
HP:0012103	Abnormality of the mitochondrion	56945	MRPS22	OMIM:611719
HP:0012103	Abnormality of the mitochondrion	6182	MRPL12	OMIM:618951
HP:0012103	Abnormality of the mitochondrion	79587	CARS2	ORPHA:477774
HP:0012103	Abnormality of the mitochondrion	79587	CARS2	OMIM:616672
HP:0012103	Abnormality of the mitochondrion	84340	GFM2	OMIM:618397
HP:0012103	Abnormality of the mitochondrion	55278	QRSL1	OMIM:618835
HP:0012103	Abnormality of the mitochondrion	57570	TRMT5	OMIM:616539
HP:0012103	Abnormality of the mitochondrion	51649	MRPS23	OMIM:618952
HP:0012103	Abnormality of the mitochondrion	57038	RARS2	OMIM:611523
HP:0012103	Abnormality of the mitochondrion	283459	GATC	OMIM:618839
HP:0012103	Abnormality of the mitochondrion	28958	COA3	OMIM:619058
HP:0012103	Abnormality of the mitochondrion	54802	TRIT1	OMIM:617873
HP:0012103	Abnormality of the mitochondrion	116228	COX20	OMIM:619054
HP:0012103	Abnormality of the mitochondrion	100131801	PET100	OMIM:619055
HP:0012103	Abnormality of the mitochondrion	63899	NSUN3	OMIM:619012
HP:0012103	Abnormality of the mitochondrion	388753	COA6	OMIM:616501
HP:0012103	Abnormality of the mitochondrion	493753	COA5	OMIM:616500
HP:0012103	Abnormality of the mitochondrion	29960	MRM2	OMIM:618567
HP:0012103	Abnormality of the mitochondrion	708	C1QBP	OMIM:617713
HP:0012103	Abnormality of the mitochondrion	91574	MTRFR	OMIM:613559
HP:0012103	Abnormality of the mitochondrion	124454	EARS2	OMIM:614924
HP:0012103	Abnormality of the mitochondrion	54675	CRLS1	OMIM:620167
HP:0012103	Abnormality of the mitochondrion	84334	COA8	OMIM:619061
HP:0012103	Abnormality of the mitochondrion	1339	COX6A2	OMIM:619062
HP:0012103	Abnormality of the mitochondrion	80324	PUS1	OMIM:600462
HP:0012103	Abnormality of the mitochondrion	9377	COX5A	OMIM:619064
HP:0012103	Abnormality of the mitochondrion	1327	COX4I1	OMIM:619060
HP:0012103	Abnormality of the mitochondrion	64432	MRPS25	OMIM:619025
HP:0012103	Abnormality of the mitochondrion	57505	AARS2	OMIM:614096
HP:0012103	Abnormality of the mitochondrion	29928	TIMM22	OMIM:618851
HP:0012103	Abnormality of the mitochondrion	4697	NDUFA4	OMIM:619065
HP:0012103	Abnormality of the mitochondrion	115286	SLC25A26	OMIM:616794
HP:0012103	Abnormality of the mitochondrion	51067	YARS2	OMIM:613561
HP:0012103	Abnormality of the mitochondrion	84705	GTPBP3	OMIM:616198
HP:0012103	Abnormality of the mitochondrion	84705	GTPBP3	ORPHA:444013
HP:0012103	Abnormality of the mitochondrion	9131	AIFM1	OMIM:300816
HP:0012103	Abnormality of the mitochondrion	132001	TAMM41	OMIM:620139
HP:0012103	Abnormality of the mitochondrion	51021	MRPS16	OMIM:610498
HP:0012103	Abnormality of the mitochondrion	79731	NARS2	OMIM:616239
HP:0012103	Abnormality of the mitochondrion	79736	TEFM	OMIM:620451
HP:0012103	Abnormality of the mitochondrion	27247	NFU1	OMIM:605711
HP:0012103	Abnormality of the mitochondrion	3735	KARS1	OMIM:619147
HP:0012103	Abnormality of the mitochondrion	8803	SUCLA2	OMIM:612073
HP:0012103	Abnormality of the mitochondrion	2671	GFER	OMIM:613076
HP:0012103	Abnormality of the mitochondrion	1468	SLC25A10	OMIM:618972
HP:0012103	Abnormality of the mitochondrion	7156	TOP3A	OMIM:618097
HP:0012103	Abnormality of the mitochondrion	7084	TK2	OMIM:617069
HP:0012103	Abnormality of the mitochondrion	7084	TK2	OMIM:609560
HP:0012103	Abnormality of the mitochondrion	498	ATP5F1A	OMIM:616045
HP:0012103	Abnormality of the mitochondrion	7019	TFAM	OMIM:617156
HP:0012103	Abnormality of the mitochondrion	4976	OPA1	OMIM:616896
HP:0012103	Abnormality of the mitochondrion	55750	AGK	OMIM:212350
HP:0012103	Abnormality of the mitochondrion	9200	HACD1	OMIM:619967
HP:0012103	Abnormality of the mitochondrion	128240	NAXE	OMIM:617186
HP:0012103	Abnormality of the mitochondrion	1020	CDK5	OMIM:616342
HP:0012103	Abnormality of the mitochondrion	4702	NDUFA8	OMIM:619272
HP:0012103	Abnormality of the mitochondrion	4718	NDUFC2	OMIM:619170
HP:0012103	Abnormality of the mitochondrion	55967	NDUFA12	OMIM:618244
HP:0012103	Abnormality of the mitochondrion	4704	NDUFA9	OMIM:618247
HP:0012103	Abnormality of the mitochondrion	55037	PTCD3	OMIM:619057
HP:0012103	Abnormality of the mitochondrion	4705	NDUFA10	OMIM:618243
HP:0012103	Abnormality of the mitochondrion	51079	NDUFA13	OMIM:618249
HP:0012103	Abnormality of the mitochondrion	4714	NDUFB8	OMIM:618252
HP:0012103	Abnormality of the mitochondrion	122961	ISCA2	OMIM:616370
HP:0012103	Abnormality of the mitochondrion	25828	TXN2	ORPHA:478029
HP:0012103	Abnormality of the mitochondrion	25828	TXN2	OMIM:616811
HP:0012103	Abnormality of the mitochondrion	60528	ELAC2	OMIM:615440
HP:0012103	Abnormality of the mitochondrion	6329	SCN4A	OMIM:620351
HP:0012103	Abnormality of the mitochondrion	4713	NDUFB7	OMIM:620135
HP:0012103	Abnormality of the mitochondrion	27089	UQCRQ	OMIM:615159
HP:0012103	Abnormality of the mitochondrion	54902	TTC19	OMIM:615157
HP:0012103	Abnormality of the mitochondrion	7381	UQCRB	OMIM:615158
HP:0012103	Abnormality of the mitochondrion	25821	MTO1	OMIM:614702
HP:0012103	Abnormality of the mitochondrion	90624	LYRM7	OMIM:615838
HP:0012103	Abnormality of the mitochondrion	617	BCS1L	OMIM:124000
HP:0012103	Abnormality of the mitochondrion	1537	CYC1	OMIM:615453
HP:0012103	Abnormality of the mitochondrion	790955	UQCC3	OMIM:616111
HP:0012103	Abnormality of the mitochondrion	7388	UQCRH	OMIM:620137
HP:0012103	Abnormality of the mitochondrion	54968	TMEM70	OMIM:614052
HP:0012103	Abnormality of the mitochondrion	513	ATP5F1D	OMIM:618120
HP:0012103	Abnormality of the mitochondrion	514	ATP5F1E	OMIM:614053
HP:0012103	Abnormality of the mitochondrion	92609	TIMM50	ORPHA:505216
HP:0012103	Abnormality of the mitochondrion	91647	ATPAF2	OMIM:604273
HP:0012103	Abnormality of the mitochondrion	4312	MMP1	ORPHA:79408
HP:0012103	Abnormality of the mitochondrion	56947	MFF	ORPHA:485421
HP:0012103	Abnormality of the mitochondrion	8802	SUCLG1	ORPHA:17
HP:0012103	Abnormality of the mitochondrion	2232	FDXR	ORPHA:543470
HP:0012103	Abnormality of the mitochondrion	5428	POLG	ORPHA:298
HP:0012103	Abnormality of the mitochondrion	5428	POLG	ORPHA:254892
HP:0012103	Abnormality of the mitochondrion	1890	TYMP	ORPHA:298
HP:0012103	Abnormality of the mitochondrion	3980	LIG3	ORPHA:298
HP:0012103	Abnormality of the mitochondrion	50484	RRM2B	ORPHA:298
HP:0012103	Abnormality of the mitochondrion	50484	RRM2B	ORPHA:254892
HP:0012103	Abnormality of the mitochondrion	291	SLC25A4	ORPHA:254892
HP:0012103	Abnormality of the mitochondrion	56652	TWNK	ORPHA:254892
HP:0012103	Abnormality of the mitochondrion	11232	POLG2	ORPHA:254892
HP:0012103	Abnormality of the mitochondrion	10059	DNM1L	ORPHA:330050
HP:0012103	Abnormality of the mitochondrion	5250	SLC25A3	ORPHA:91130
HP:0012103	Abnormality of the mitochondrion	10020	GNE	ORPHA:3166
HP:0012103	Abnormality of the mitochondrion	5830	PEX5	OMIM:214110
HP:0012103	Abnormality of the mitochondrion	5277	PIGA	OMIM:300868
HP:0012103	Abnormality of the mitochondrion	4358	MPV17	OMIM:256810
HP:0012103	Abnormality of the mitochondrion	26235	FBXL4	OMIM:615471
HP:0012103	Abnormality of the mitochondrion	4703	NEB	OMIM:256030
HP:0012103	Abnormality of the mitochondrion	7273	TTN	OMIM:611705
HP:0012103	Abnormality of the mitochondrion	2271	FH	OMIM:606812
HP:0012103	Abnormality of the mitochondrion	79784	MYH14	ORPHA:397744
HP:0012103	Abnormality of the mitochondrion	57128	LYRM4	OMIM:615595
HP:0012103	Abnormality of the mitochondrion	9453	GGPS1	OMIM:619518
HP:0012103	Abnormality of the mitochondrion	1120	CHKB	OMIM:602541
HP:0012103	Abnormality of the mitochondrion	1763	DNA2	ORPHA:352470
HP:0012103	Abnormality of the mitochondrion	92667	MGME1	ORPHA:352447
HP:0012103	Abnormality of the mitochondrion	119559	SFXN4	OMIM:615578
HP:0012103	Abnormality of the mitochondrion	100303755	PET117	OMIM:619063
HP:0012103	Abnormality of the mitochondrion	2992	GYG1	ORPHA:263297
HP:0012103	Abnormality of the mitochondrion	3030	HADHA	OMIM:609016
HP:0012103	Abnormality of the mitochondrion	1593	CYP27A1	ORPHA:909
HP:0012103	Abnormality of the mitochondrion	87178	PNPT1	ORPHA:319514
HP:0012103	Abnormality of the mitochondrion	84277	DNAJC30	ORPHA:104
HP:0012103	Abnormality of the mitochondrion	4519	MT-CYB	ORPHA:104
HP:0012103	Abnormality of the mitochondrion	4539	MT-ND4L	ORPHA:104
HP:0012103	Abnormality of the mitochondrion	5495	PPM1B	ORPHA:163693
HP:0012103	Abnormality of the mitochondrion	6519	SLC3A1	ORPHA:163693
HP:0012103	Abnormality of the mitochondrion	9581	PREPL	ORPHA:163693
HP:0012103	Abnormality of the mitochondrion	79823	CAMKMT	ORPHA:163693
HP:0012104	Parietal cortical atrophy	10273	STUB1	ORPHA:412057
HP:0012104	Parietal cortical atrophy	6638	SNRPN	ORPHA:177904
HP:0012104	Parietal cortical atrophy	6638	SNRPN	ORPHA:177901
HP:0012104	Parietal cortical atrophy	6638	SNRPN	ORPHA:98754
HP:0012104	Parietal cortical atrophy	4692	NDN	ORPHA:177904
HP:0012104	Parietal cortical atrophy	4692	NDN	ORPHA:177901
HP:0012104	Parietal cortical atrophy	4692	NDN	ORPHA:98754
HP:0012104	Parietal cortical atrophy	54551	MAGEL2	ORPHA:177904
HP:0012104	Parietal cortical atrophy	54551	MAGEL2	ORPHA:177901
HP:0012104	Parietal cortical atrophy	54551	MAGEL2	ORPHA:98754
HP:0012104	Parietal cortical atrophy	4948	OCA2	ORPHA:177904
HP:0012104	Parietal cortical atrophy	4948	OCA2	ORPHA:177901
HP:0012104	Parietal cortical atrophy	4948	OCA2	ORPHA:98754
HP:0012104	Parietal cortical atrophy	55681	SCYL2	OMIM:618766
HP:0012104	Parietal cortical atrophy	26278	SACS	ORPHA:98
HP:0012104	Parietal cortical atrophy	5927	KDM5A	OMIM:620820
HP:0012104	Parietal cortical atrophy	10430	TMEM147	OMIM:620075
HP:0012105	Occipital cortical atrophy	6638	SNRPN	ORPHA:177904
HP:0012105	Occipital cortical atrophy	6638	SNRPN	ORPHA:177901
HP:0012105	Occipital cortical atrophy	6638	SNRPN	ORPHA:98754
HP:0012105	Occipital cortical atrophy	4692	NDN	ORPHA:177904
HP:0012105	Occipital cortical atrophy	4692	NDN	ORPHA:177901
HP:0012105	Occipital cortical atrophy	4692	NDN	ORPHA:98754
HP:0012105	Occipital cortical atrophy	54551	MAGEL2	ORPHA:177904
HP:0012105	Occipital cortical atrophy	54551	MAGEL2	ORPHA:177901
HP:0012105	Occipital cortical atrophy	54551	MAGEL2	ORPHA:98754
HP:0012105	Occipital cortical atrophy	4948	OCA2	ORPHA:177904
HP:0012105	Occipital cortical atrophy	4948	OCA2	ORPHA:177901
HP:0012105	Occipital cortical atrophy	4948	OCA2	ORPHA:98754
HP:0012105	Occipital cortical atrophy	85440	DOCK7	ORPHA:411986
HP:0012106	Rhizomelic leg shortening	1280	COL2A1	OMIM:271700
HP:0012106	Rhizomelic leg shortening	79848	CSPP1	ORPHA:397715
HP:0012106	Rhizomelic leg shortening	9786	KIAA0586	ORPHA:397715
HP:0012107	Increased fibular diameter	10082	GPC6	OMIM:258315
HP:0012107	Increased fibular diameter	3636	INPPL1	ORPHA:3144
HP:0012107	Increased fibular diameter	23169	SLC35D1	ORPHA:3144
HP:0012108	Open angle glaucoma	10133	OPTN	OMIM:137760
HP:0012108	Open angle glaucoma	4909	NTF4	OMIM:613100
HP:0012108	Open angle glaucoma	4010	LMX1B	ORPHA:2614
HP:0012108	Open angle glaucoma	2202	EFEMP1	OMIM:611276
HP:0012108	Open angle glaucoma	2202	EFEMP1	ORPHA:98977
HP:0012108	Open angle glaucoma	11232	POLG2	OMIM:619425
HP:0012108	Open angle glaucoma	2263	FGFR2	ORPHA:2363
HP:0012108	Open angle glaucoma	2261	FGFR3	ORPHA:2363
HP:0012108	Open angle glaucoma	2255	FGF10	ORPHA:2363
HP:0012108	Open angle glaucoma	134430	WDR36	OMIM:609887
HP:0012108	Open angle glaucoma	1545	CYP1B1	ORPHA:98977
HP:0012108	Open angle glaucoma	4653	MYOC	ORPHA:98977
HP:0012108	Open angle glaucoma	136371	ASB10	OMIM:603383
HP:0012109	Angle closure glaucoma	4041	LRP5	ORPHA:2788
HP:0012109	Angle closure glaucoma	26022	TMEM98	OMIM:615972
HP:0012109	Angle closure glaucoma	1301	COL11A1	OMIM:604841
HP:0012109	Angle closure glaucoma	4693	NDP	ORPHA:91495
HP:0012109	Angle closure glaucoma	220202	ATOH7	ORPHA:91495
HP:0012109	Angle closure glaucoma	8322	FZD4	ORPHA:91495
HP:0012109	Angle closure glaucoma	80781	COL18A1	OMIM:618880
HP:0012110	Hypoplasia of the pons	79042	TSEN34	ORPHA:2524
HP:0012110	Hypoplasia of the pons	80746	TSEN2	ORPHA:2524
HP:0012110	Hypoplasia of the pons	51091	SEPSECS	ORPHA:2524
HP:0012110	Hypoplasia of the pons	5518	PPP2R1A	ORPHA:457284
HP:0012110	Hypoplasia of the pons	6311	ATXN2	ORPHA:98756
HP:0012110	Hypoplasia of the pons	5373	PMM2	OMIM:212065
HP:0012110	Hypoplasia of the pons	29925	GMPPB	OMIM:615350
HP:0012110	Hypoplasia of the pons	29925	GMPPB	ORPHA:370959
HP:0012110	Hypoplasia of the pons	1182	CLCN3	OMIM:619512
HP:0012110	Hypoplasia of the pons	55773	TBC1D23	OMIM:617695
HP:0012110	Hypoplasia of the pons	94005	PIGS	OMIM:618143
HP:0012110	Hypoplasia of the pons	9681	DEPDC5	OMIM:620504
HP:0012110	Hypoplasia of the pons	2972	BRF1	OMIM:616202
HP:0012110	Hypoplasia of the pons	2972	BRF1	ORPHA:444072
HP:0012110	Hypoplasia of the pons	8573	CASK	OMIM:300749
HP:0012110	Hypoplasia of the pons	8573	CASK	ORPHA:163937
HP:0012110	Hypoplasia of the pons	11340	EXOSC8	ORPHA:2254
HP:0012110	Hypoplasia of the pons	5393	EXOSC9	ORPHA:2254
HP:0012110	Hypoplasia of the pons	23287	AGTPBP1	ORPHA:2254
HP:0012110	Hypoplasia of the pons	23287	AGTPBP1	OMIM:618276
HP:0012110	Hypoplasia of the pons	51010	EXOSC3	ORPHA:2254
HP:0012110	Hypoplasia of the pons	7443	VRK1	ORPHA:2254
HP:0012110	Hypoplasia of the pons	7443	VRK1	OMIM:620542
HP:0012110	Hypoplasia of the pons	7443	VRK1	OMIM:607596
HP:0012110	Hypoplasia of the pons	91137	SLC25A46	ORPHA:2254
HP:0012110	Hypoplasia of the pons	91137	SLC25A46	OMIM:619303
HP:0012110	Hypoplasia of the pons	6091	ROBO1	OMIM:620305
HP:0012110	Hypoplasia of the pons	85440	DOCK7	ORPHA:411986
HP:0012110	Hypoplasia of the pons	85440	DOCK7	OMIM:615859
HP:0012110	Hypoplasia of the pons	25914	RTTN	ORPHA:468631
HP:0012110	Hypoplasia of the pons	5649	RELN	OMIM:257320
HP:0012110	Hypoplasia of the pons	23126	POGZ	ORPHA:468678
HP:0012110	Hypoplasia of the pons	9289	ADGRG1	ORPHA:101070
HP:0012110	Hypoplasia of the pons	9289	ADGRG1	OMIM:606854
HP:0012110	Hypoplasia of the pons	5728	PTEN	ORPHA:101070
HP:0012110	Hypoplasia of the pons	724066	ATXN8	ORPHA:98760
HP:0012110	Hypoplasia of the pons	6315	ATXN8OS	ORPHA:98760
HP:0012110	Hypoplasia of the pons	79147	FKRP	ORPHA:370959
HP:0012110	Hypoplasia of the pons	79147	FKRP	OMIM:613153
HP:0012110	Hypoplasia of the pons	29954	POMT2	ORPHA:370959
HP:0012110	Hypoplasia of the pons	84197	POMK	ORPHA:370959
HP:0012110	Hypoplasia of the pons	55624	POMGNT1	ORPHA:370959
HP:0012110	Hypoplasia of the pons	55624	POMGNT1	OMIM:613151
HP:0012110	Hypoplasia of the pons	10585	POMT1	ORPHA:370959
HP:0012110	Hypoplasia of the pons	10733	PLK4	OMIM:616171
HP:0012110	Hypoplasia of the pons	51112	TRAPPC12	ORPHA:500144
HP:0012110	Hypoplasia of the pons	51112	TRAPPC12	OMIM:617669
HP:0012110	Hypoplasia of the pons	283989	TSEN54	OMIM:225753
HP:0012110	Hypoplasia of the pons	283989	TSEN54	OMIM:277470
HP:0012110	Hypoplasia of the pons	116461	TSEN15	OMIM:617026
HP:0012110	Hypoplasia of the pons	1630	DCC	OMIM:617542
HP:0012110	Hypoplasia of the pons	28514	DLL1	ORPHA:280195
HP:0012110	Hypoplasia of the pons	2253	FGF8	ORPHA:280195
HP:0012110	Hypoplasia of the pons	6496	SIX3	ORPHA:280195
HP:0012110	Hypoplasia of the pons	7050	TGIF1	ORPHA:280195
HP:0012110	Hypoplasia of the pons	4838	NODAL	ORPHA:280195
HP:0012110	Hypoplasia of the pons	6469	SHH	ORPHA:280195
HP:0012110	Hypoplasia of the pons	7546	ZIC2	ORPHA:280195
HP:0012110	Hypoplasia of the pons	6491	STIL	ORPHA:280195
HP:0012110	Hypoplasia of the pons	2619	GAS1	ORPHA:280195
HP:0012110	Hypoplasia of the pons	84976	DISP1	ORPHA:280195
HP:0012110	Hypoplasia of the pons	2736	GLI2	ORPHA:280195
HP:0012110	Hypoplasia of the pons	8928	FOXH1	ORPHA:280195
HP:0012110	Hypoplasia of the pons	6997	CRIPTO	ORPHA:280195
HP:0012110	Hypoplasia of the pons	5727	PTCH1	ORPHA:280195
HP:0012110	Hypoplasia of the pons	50937	CDON	ORPHA:280195
HP:0012110	Hypoplasia of the pons	473	RERE	OMIM:616975
HP:0012110	Hypoplasia of the pons	4190	MDH1	OMIM:618959
HP:0012110	Hypoplasia of the pons	10297	APC2	OMIM:618677
HP:0012110	Hypoplasia of the pons	4081	MAB21L1	OMIM:618479
HP:0012110	Hypoplasia of the pons	4081	MAB21L1	ORPHA:495875
HP:0012110	Hypoplasia of the pons	9562	MINPP1	OMIM:619527
HP:0012110	Hypoplasia of the pons	29072	SETD2	OMIM:620157
HP:0012110	Hypoplasia of the pons	29072	SETD2	OMIM:620155
HP:0012110	Hypoplasia of the pons	64221	ROBO3	OMIM:607313
HP:0012110	Hypoplasia of the pons	271	AMPD2	OMIM:615809
HP:0012110	Hypoplasia of the pons	57231	SNX14	ORPHA:397709
HP:0012110	Hypoplasia of the pons	6595	SMARCA2	OMIM:619293
HP:0012110	Hypoplasia of the pons	347733	TUBB2B	ORPHA:467166
HP:0012110	Hypoplasia of the pons	347733	TUBB2B	ORPHA:300573
HP:0012110	Hypoplasia of the pons	7846	TUBA1A	ORPHA:467166
HP:0012110	Hypoplasia of the pons	10381	TUBB3	ORPHA:467166
HP:0012110	Hypoplasia of the pons	440	ASNS	OMIM:615574
HP:0012110	Hypoplasia of the pons	9215	LARGE1	OMIM:613154
HP:0012110	Hypoplasia of the pons	10273	STUB1	ORPHA:412057
HP:0012110	Hypoplasia of the pons	738	VPS51	OMIM:618606
HP:0012110	Hypoplasia of the pons	23499	MACF1	OMIM:618325
HP:0012110	Hypoplasia of the pons	9439	MED23	OMIM:614249
HP:0012110	Hypoplasia of the pons	114034	TOE1	OMIM:614969
HP:0012110	Hypoplasia of the pons	10195	ALG3	ORPHA:79321
HP:0012110	Hypoplasia of the pons	148789	B3GALNT2	OMIM:615181
HP:0012110	Hypoplasia of the pons	191	AHCY	ORPHA:88618
HP:0012110	Hypoplasia of the pons	51645	PPIL1	OMIM:619301
HP:0012110	Hypoplasia of the pons	8884	SLC5A6	OMIM:618973
HP:0012110	Hypoplasia of the pons	92935	MARS2	OMIM:616430
HP:0012110	Hypoplasia of the pons	7471	WNT1	OMIM:615220
HP:0012110	Hypoplasia of the pons	7545	ZIC1	OMIM:618736
HP:0012110	Hypoplasia of the pons	10243	GPHN	OMIM:615501
HP:0012110	Hypoplasia of the pons	9181	ARHGEF2	OMIM:617523
HP:0012110	Hypoplasia of the pons	51013	EXOSC1	OMIM:619304
HP:0012110	Hypoplasia of the pons	7319	UBE2A	ORPHA:163956
HP:0012110	Hypoplasia of the pons	57724	EPG5	ORPHA:1493
HP:0012110	Hypoplasia of the pons	55361	PI4K2A	OMIM:620732
HP:0012110	Hypoplasia of the pons	27445	PCLO	OMIM:608027
HP:0012110	Hypoplasia of the pons	1974	EIF4A2	OMIM:620455
HP:0012110	Hypoplasia of the pons	5297	PI4KA	OMIM:619708
HP:0012110	Hypoplasia of the pons	59336	PRDM13	OMIM:619909
HP:0012111	Abnormality of circulating glucocorticoid level	4221	MEN1	ORPHA:652
HP:0012111	Abnormality of circulating glucocorticoid level	4221	MEN1	OMIM:131100
HP:0012111	Abnormality of circulating glucocorticoid level	1027	CDKN1B	ORPHA:652
HP:0012111	Abnormality of circulating glucocorticoid level	1027	CDKN1B	ORPHA:276152
HP:0012111	Abnormality of circulating glucocorticoid level	1026	CDKN1A	ORPHA:652
HP:0012111	Abnormality of circulating glucocorticoid level	1030	CDKN2B	ORPHA:652
HP:0012111	Abnormality of circulating glucocorticoid level	1031	CDKN2C	ORPHA:652
HP:0012111	Abnormality of circulating glucocorticoid level	84196	USP48	ORPHA:96253
HP:0012111	Abnormality of circulating glucocorticoid level	7157	TP53	ORPHA:96253
HP:0012111	Abnormality of circulating glucocorticoid level	7157	TP53	ORPHA:1501
HP:0012111	Abnormality of circulating glucocorticoid level	9101	USP8	ORPHA:96253
HP:0012111	Abnormality of circulating glucocorticoid level	64072	CDH23	ORPHA:96253
HP:0012111	Abnormality of circulating glucocorticoid level	2908	NR3C1	ORPHA:96253
HP:0012111	Abnormality of circulating glucocorticoid level	2908	NR3C1	ORPHA:786
HP:0012111	Abnormality of circulating glucocorticoid level	2908	NR3C1	OMIM:615962
HP:0012111	Abnormality of circulating glucocorticoid level	673	BRAF	ORPHA:96253
HP:0012111	Abnormality of circulating glucocorticoid level	546	ATRX	ORPHA:96253
HP:0012111	Abnormality of circulating glucocorticoid level	2778	GNAS	OMIM:174800
HP:0012111	Abnormality of circulating glucocorticoid level	2778	GNAS	OMIM:219080
HP:0012111	Abnormality of circulating glucocorticoid level	2778	GNAS	ORPHA:562
HP:0012111	Abnormality of circulating glucocorticoid level	2778	GNAS	OMIM:617686
HP:0012111	Abnormality of circulating glucocorticoid level	2778	GNAS	ORPHA:189427
HP:0012111	Abnormality of circulating glucocorticoid level	5566	PRKACA	OMIM:615830
HP:0012111	Abnormality of circulating glucocorticoid level	23040	MYT1L	OMIM:616521
HP:0012111	Abnormality of circulating glucocorticoid level	79798	ARMC5	OMIM:615954
HP:0012111	Abnormality of circulating glucocorticoid level	79798	ARMC5	ORPHA:189427
HP:0012111	Abnormality of circulating glucocorticoid level	5573	PRKAR1A	OMIM:610489
HP:0012111	Abnormality of circulating glucocorticoid level	5573	PRKAR1A	ORPHA:1501
HP:0012111	Abnormality of circulating glucocorticoid level	5573	PRKAR1A	ORPHA:1359
HP:0012111	Abnormality of circulating glucocorticoid level	3767	KCNJ11	ORPHA:79644
HP:0012111	Abnormality of circulating glucocorticoid level	84133	ZNRF3	ORPHA:1501
HP:0012111	Abnormality of circulating glucocorticoid level	1499	CTNNB1	ORPHA:1501
HP:0012111	Abnormality of circulating glucocorticoid level	1029	CDKN2A	ORPHA:1501
HP:0012111	Abnormality of circulating glucocorticoid level	7015	TERT	ORPHA:1501
HP:0012111	Abnormality of circulating glucocorticoid level	5621	PRNP	ORPHA:466
HP:0012111	Abnormality of circulating glucocorticoid level	8622	PDE8B	OMIM:614190
HP:0012111	Abnormality of circulating glucocorticoid level	5979	RET	OMIM:171400
HP:0012111	Abnormality of circulating glucocorticoid level	23028	KDM1A	ORPHA:189427
HP:0012111	Abnormality of circulating glucocorticoid level	3350	HTR1A	OMIM:614674
HP:0012111	Abnormality of circulating glucocorticoid level	50940	PDE11A	OMIM:610475
HP:0012111	Abnormality of circulating glucocorticoid level	50940	PDE11A	ORPHA:1359
HP:0012111	Abnormality of circulating glucocorticoid level	326	AIRE	ORPHA:3453
HP:0012111	Abnormality of circulating glucocorticoid level	9095	TBX19	ORPHA:199296
HP:0012111	Abnormality of circulating glucocorticoid level	9095	TBX19	OMIM:201400
HP:0012111	Abnormality of circulating glucocorticoid level	4791	NFKB2	ORPHA:293978
HP:0012111	Abnormality of circulating glucocorticoid level	5122	PCSK1	OMIM:600955
HP:0012111	Abnormality of circulating glucocorticoid level	5447	POR	OMIM:201750
HP:0012111	Abnormality of circulating glucocorticoid level	5447	POR	ORPHA:95699
HP:0012111	Abnormality of circulating glucocorticoid level	4158	MC2R	OMIM:202200
HP:0012111	Abnormality of circulating glucocorticoid level	4158	MC2R	ORPHA:361
HP:0012111	Abnormality of circulating glucocorticoid level	215	ABCD1	ORPHA:139396
HP:0012111	Abnormality of circulating glucocorticoid level	4358	MPV17	OMIM:256810
HP:0012111	Abnormality of circulating glucocorticoid level	1583	CYP11A1	ORPHA:168558
HP:0012111	Abnormality of circulating glucocorticoid level	1583	CYP11A1	ORPHA:289548
HP:0012111	Abnormality of circulating glucocorticoid level	6091	ROBO1	OMIM:620305
HP:0012111	Abnormality of circulating glucocorticoid level	8314	BAP1	ORPHA:2495
HP:0012111	Abnormality of circulating glucocorticoid level	4771	NF2	ORPHA:2495
HP:0012111	Abnormality of circulating glucocorticoid level	6598	SMARCB1	ORPHA:2495
HP:0012111	Abnormality of circulating glucocorticoid level	5155	PDGFB	ORPHA:2495
HP:0012111	Abnormality of circulating glucocorticoid level	84231	TRAF7	ORPHA:2495
HP:0012111	Abnormality of circulating glucocorticoid level	6608	SMO	ORPHA:2495
HP:0012111	Abnormality of circulating glucocorticoid level	207	AKT1	ORPHA:2495
HP:0012111	Abnormality of circulating glucocorticoid level	5290	PIK3CA	ORPHA:2495
HP:0012111	Abnormality of circulating glucocorticoid level	51684	SUFU	ORPHA:2495
HP:0012111	Abnormality of circulating glucocorticoid level	6605	SMARCE1	ORPHA:2495
HP:0012111	Abnormality of circulating glucocorticoid level	29926	GMPPA	ORPHA:869
HP:0012111	Abnormality of circulating glucocorticoid level	60684	TRAPPC11	ORPHA:869
HP:0012111	Abnormality of circulating glucocorticoid level	8086	AAAS	ORPHA:869
HP:0012111	Abnormality of circulating glucocorticoid level	8086	AAAS	OMIM:231550
HP:0012111	Abnormality of circulating glucocorticoid level	56246	MRAP	ORPHA:361
HP:0012111	Abnormality of circulating glucocorticoid level	56246	MRAP	OMIM:607398
HP:0012111	Abnormality of circulating glucocorticoid level	6770	STAR	ORPHA:361
HP:0012111	Abnormality of circulating glucocorticoid level	23530	NNT	ORPHA:361
HP:0012111	Abnormality of circulating glucocorticoid level	23530	NNT	OMIM:614736
HP:0012111	Abnormality of circulating glucocorticoid level	10587	TXNRD2	ORPHA:361
HP:0012111	Abnormality of circulating glucocorticoid level	10587	TXNRD2	OMIM:617825
HP:0012111	Abnormality of circulating glucocorticoid level	190	NR0B1	OMIM:300200
HP:0012111	Abnormality of circulating glucocorticoid level	190	NR0B1	ORPHA:95702
HP:0012111	Abnormality of circulating glucocorticoid level	5443	POMC	OMIM:609734
HP:0012111	Abnormality of circulating glucocorticoid level	55278	QRSL1	OMIM:618835
HP:0012111	Abnormality of circulating glucocorticoid level	5188	GATB	OMIM:618838
HP:0012111	Abnormality of circulating glucocorticoid level	866	SERPINA6	OMIM:611489
HP:0012111	Abnormality of circulating glucocorticoid level	3284	HSD3B2	ORPHA:90791
HP:0012111	Abnormality of circulating glucocorticoid level	283459	GATC	OMIM:618839
HP:0012111	Abnormality of circulating glucocorticoid level	2737	GLI3	OMIM:146510
HP:0012111	Abnormality of circulating glucocorticoid level	1584	CYP11B1	ORPHA:90795
HP:0012111	Abnormality of circulating glucocorticoid level	3291	HSD11B2	ORPHA:320
HP:0012111	Abnormality of circulating glucocorticoid level	84733	CBX2	OMIM:613080
HP:0012111	Abnormality of circulating glucocorticoid level	1528	CYB5A	ORPHA:90796
HP:0012111	Abnormality of circulating glucocorticoid level	1586	CYP17A1	ORPHA:90796
HP:0012111	Abnormality of circulating glucocorticoid level	1585	CYP11B2	ORPHA:556030
HP:0012111	Abnormality of circulating glucocorticoid level	3290	HSD11B1	OMIM:614662
HP:0012111	Abnormality of circulating glucocorticoid level	1589	CYP21A2	OMIM:201910
HP:0012112	Abnormal circulating corticosterone level	1528	CYB5A	ORPHA:90796
HP:0012112	Abnormal circulating corticosterone level	1586	CYP17A1	ORPHA:90796
HP:0012112	Abnormal circulating corticosterone level	1585	CYP11B2	ORPHA:556030
HP:0012112	Abnormal circulating corticosterone level	5447	POR	ORPHA:95699
HP:0012113	Abnormal circulating creatine concentration	64218	SEMA4A	ORPHA:440437
HP:0012113	Abnormal circulating creatine concentration	472	ATM	ORPHA:440437
HP:0012113	Abnormal circulating creatine concentration	5426	POLE	ORPHA:440437
HP:0012113	Abnormal circulating creatine concentration	675	BRCA2	ORPHA:440437
HP:0012113	Abnormal circulating creatine concentration	657	BMPR1A	ORPHA:440437
HP:0012113	Abnormal circulating creatine concentration	6224	RPS20	ORPHA:440437
HP:0012113	Abnormal circulating creatine concentration	4595	MUTYH	ORPHA:440437
HP:0012113	Abnormal circulating creatine concentration	5424	POLD1	ORPHA:440437
HP:0012113	Abnormal circulating creatine concentration	11200	CHEK2	ORPHA:440437
HP:0012113	Abnormal circulating creatine concentration	6535	SLC6A8	ORPHA:52503
HP:0012113	Abnormal circulating creatine concentration	23534	TNPO3	OMIM:608423
HP:0012114	Endometrial carcinoma	4072	EPCAM	ORPHA:144
HP:0012114	Endometrial carcinoma	4072	EPCAM	OMIM:613244
HP:0012114	Endometrial carcinoma	4292	MLH1	ORPHA:144
HP:0012114	Endometrial carcinoma	5395	PMS2	ORPHA:144
HP:0012114	Endometrial carcinoma	5395	PMS2	OMIM:614337
HP:0012114	Endometrial carcinoma	7048	TGFBR2	ORPHA:144
HP:0012114	Endometrial carcinoma	3845	KRAS	ORPHA:144
HP:0012114	Endometrial carcinoma	5290	PIK3CA	ORPHA:144
HP:0012114	Endometrial carcinoma	5290	PIK3CA	ORPHA:201
HP:0012114	Endometrial carcinoma	2956	MSH6	ORPHA:144
HP:0012114	Endometrial carcinoma	2956	MSH6	OMIM:614350
HP:0012114	Endometrial carcinoma	2956	MSH6	OMIM:608089
HP:0012114	Endometrial carcinoma	5378	PMS1	ORPHA:144
HP:0012114	Endometrial carcinoma	4436	MSH2	ORPHA:144
HP:0012114	Endometrial carcinoma	10483	SEC23B	ORPHA:201
HP:0012114	Endometrial carcinoma	5728	PTEN	ORPHA:201
HP:0012114	Endometrial carcinoma	6390	SDHB	ORPHA:201
HP:0012114	Endometrial carcinoma	6392	SDHD	ORPHA:201
HP:0012114	Endometrial carcinoma	6391	SDHC	ORPHA:201
HP:0012114	Endometrial carcinoma	207	AKT1	ORPHA:201
HP:0012114	Endometrial carcinoma	205717	USF3	ORPHA:201
HP:0012114	Endometrial carcinoma	100144748	KLLN	ORPHA:201
HP:0012114	Endometrial carcinoma	388662	SLC6A17	ORPHA:457212
HP:0012114	Endometrial carcinoma	5424	POLD1	OMIM:612591
HP:0012114	Endometrial carcinoma	5424	POLD1	ORPHA:447877
HP:0012114	Endometrial carcinoma	26585	GREM1	ORPHA:157794
HP:0012114	Endometrial carcinoma	657	BMPR1A	ORPHA:157794
HP:0012114	Endometrial carcinoma	4913	NTHL1	ORPHA:454840
HP:0012114	Endometrial carcinoma	4913	NTHL1	OMIM:616415
HP:0012114	Endometrial carcinoma	5426	POLE	ORPHA:447877
HP:0012114	Endometrial carcinoma	999	CDH1	OMIM:608089
HP:0012114	Endometrial carcinoma	4437	MSH3	OMIM:608089
HP:0012114	Endometrial carcinoma	27030	MLH3	OMIM:608089
HP:0012115	Hepatitis	10068	IL18BP	OMIM:618549
HP:0012115	Hepatitis	3875	KRT18	OMIM:215600
HP:0012115	Hepatitis	4068	SH2D1A	OMIM:308240
HP:0012115	Hepatitis	4261	CIITA	OMIM:209920
HP:0012115	Hepatitis	3514	IGKC	ORPHA:183675
HP:0012115	Hepatitis	3501	IGHG2	ORPHA:183675
HP:0012115	Hepatitis	4233	MET	OMIM:114550
HP:0012115	Hepatitis	1499	CTNNB1	OMIM:114550
HP:0012115	Hepatitis	8312	AXIN1	OMIM:114550
HP:0012115	Hepatitis	324	APC	OMIM:114550
HP:0012115	Hepatitis	5157	PDGFRL	OMIM:114550
HP:0012115	Hepatitis	5290	PIK3CA	OMIM:114550
HP:0012115	Hepatitis	3482	IGF2R	OMIM:114550
HP:0012115	Hepatitis	841	CASP8	OMIM:114550
HP:0012115	Hepatitis	7157	TP53	OMIM:114550
HP:0012115	Hepatitis	7840	ALMS1	ORPHA:64
HP:0012115	Hepatitis	355	FAS	ORPHA:3261
HP:0012115	Hepatitis	356	FASLG	ORPHA:3261
HP:0012115	Hepatitis	843	CASP10	ORPHA:3261
HP:0012115	Hepatitis	538	ATP7A	ORPHA:198
HP:0012115	Hepatitis	6772	STAT1	ORPHA:391487
HP:0012115	Hepatitis	331	XIAP	OMIM:300635
HP:0012115	Hepatitis	331	XIAP	ORPHA:538934
HP:0012115	Hepatitis	540	ATP7B	ORPHA:905
HP:0012115	Hepatitis	5265	SERPINA1	ORPHA:60
HP:0012115	Hepatitis	9420	CYP7B1	OMIM:613812
HP:0012115	Hepatitis	50943	FOXP3	OMIM:304790
HP:0012115	Hepatitis	50943	FOXP3	ORPHA:37042
HP:0012115	Hepatitis	9780	PIEZO1	OMIM:194380
HP:0012115	Hepatitis	7174	TPP2	ORPHA:444463
HP:0012115	Hepatitis	959	CD40LG	OMIM:308230
HP:0012115	Hepatitis	2990	GUSB	ORPHA:584
HP:0012115	Hepatitis	3594	IL12RB1	ORPHA:186
HP:0012115	Hepatitis	23534	TNPO3	ORPHA:186
HP:0012115	Hepatitis	3592	IL12A	ORPHA:186
HP:0012115	Hepatitis	6689	SPIB	ORPHA:186
HP:0012115	Hepatitis	5450	POU2AF1	ORPHA:186
HP:0012115	Hepatitis	9966	TNFSF15	ORPHA:186
HP:0012115	Hepatitis	79258	MMEL1	ORPHA:186
HP:0012115	Hepatitis	3663	IRF5	ORPHA:186
HP:0012115	Hepatitis	57511	COG6	ORPHA:363523
HP:0012115	Hepatitis	83737	ITCH	OMIM:613385
HP:0012115	Hepatitis	83737	ITCH	ORPHA:228426
HP:0012115	Hepatitis	716	C1S	OMIM:613783
HP:0012115	Hepatitis	169792	GLIS3	OMIM:610199
HP:0012115	Hepatitis	64135	IFIH1	OMIM:615846
HP:0012115	Hepatitis	23729	SHPK	ORPHA:440713
HP:0012115	Hepatitis	10166	SLC25A15	ORPHA:415
HP:0012115	Hepatitis	695	BTK	ORPHA:47
HP:0012115	Hepatitis	915	CD3D	ORPHA:169160
HP:0012115	Hepatitis	916	CD3E	ORPHA:169160
HP:0012115	Hepatitis	919	CD247	ORPHA:169160
HP:0012115	Hepatitis	9095	TBX19	ORPHA:199296
HP:0012115	Hepatitis	2859	GPR35	ORPHA:171
HP:0012115	Hepatitis	10507	SEMA4D	ORPHA:171
HP:0012115	Hepatitis	4485	MST1	ORPHA:171
HP:0012115	Hepatitis	6925	TCF4	ORPHA:171
HP:0012115	Hepatitis	5236	PGM1	OMIM:614921
HP:0012115	Hepatitis	5297	PI4KA	ORPHA:436252
HP:0012115	Hepatitis	57217	TTC7A	ORPHA:436252
HP:0012115	Hepatitis	10092	ARPC5	OMIM:620565
HP:0012115	Hepatitis	1581	CYP7A1	ORPHA:209902
HP:0012115	Hepatitis	2778	GNAS	ORPHA:562
HP:0012115	Hepatitis	6850	SYK	OMIM:619381
HP:0012115	Hepatitis	84818	IL17RC	ORPHA:1334
HP:0012115	Hepatitis	64581	CLEC7A	ORPHA:1334
HP:0012115	Hepatitis	23765	IL17RA	ORPHA:1334
HP:0012115	Hepatitis	10758	TRAF3IP2	ORPHA:1334
HP:0012115	Hepatitis	112744	IL17F	ORPHA:1334
HP:0012115	Hepatitis	54	ACP5	ORPHA:1855
HP:0012115	Hepatitis	6929	TCF3	ORPHA:33110
HP:0012115	Hepatitis	7922	SLC39A7	ORPHA:33110
HP:0012115	Hepatitis	973	CD79A	ORPHA:33110
HP:0012115	Hepatitis	974	CD79B	ORPHA:33110
HP:0012115	Hepatitis	6688	SPI1	ORPHA:33110
HP:0012115	Hepatitis	3543	IGLL1	ORPHA:33110
HP:0012115	Hepatitis	3507	IGHM	ORPHA:33110
HP:0012115	Hepatitis	29760	BLNK	ORPHA:33110
HP:0012115	Hepatitis	5295	PIK3R1	ORPHA:33110
HP:0012115	Hepatitis	56262	LRRC8A	ORPHA:33110
HP:0012115	Hepatitis	84342	COG8	OMIM:611182
HP:0012115	Hepatitis	23600	AMACR	ORPHA:79095
HP:0012115	Hepatitis	23600	AMACR	OMIM:214950
HP:0012115	Hepatitis	80270	HSD3B7	OMIM:607765
HP:0012115	Hepatitis	63894	VIPAS39	OMIM:613404
HP:0012115	Hepatitis	26276	VPS33B	OMIM:208085
HP:0012115	Hepatitis	6718	AKR1D1	ORPHA:79303
HP:0012115	Hepatitis	721	C4B	OMIM:614379
HP:0012115	Hepatitis	326	AIRE	OMIM:240300
HP:0012115	Hepatitis	8456	FOXN1	ORPHA:83471
HP:0012115	Hepatitis	6499	SKIC2	OMIM:614602
HP:0012115	Hepatitis	3043	HBB	ORPHA:231226
HP:0012115	Hepatitis	50615	IL21R	OMIM:615207
HP:0012115	Hepatitis	5994	RFXAP	ORPHA:572
HP:0012115	Hepatitis	5993	RFX5	ORPHA:572
HP:0012115	Hepatitis	8625	RFXANK	ORPHA:572
HP:0012116	Abnormal circulating albumin concentration	83483	PLVAP	OMIM:618183
HP:0012116	Abnormal circulating albumin concentration	3376	IARS1	OMIM:617093
HP:0012116	Abnormal circulating albumin concentration	10785	WDR4	OMIM:618347
HP:0012116	Abnormal circulating albumin concentration	55746	NUP133	OMIM:618349
HP:0012116	Abnormal circulating albumin concentration	55746	NUP133	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	84942	WDR73	OMIM:251300
HP:0012116	Abnormal circulating albumin concentration	55775	TDP1	ORPHA:94124
HP:0012116	Abnormal circulating albumin concentration	55775	TDP1	OMIM:607250
HP:0012116	Abnormal circulating albumin concentration	79796	ALG9	OMIM:608776
HP:0012116	Abnormal circulating albumin concentration	5551	PRF1	ORPHA:540
HP:0012116	Abnormal circulating albumin concentration	5551	PRF1	OMIM:603553
HP:0012116	Abnormal circulating albumin concentration	8676	STX11	ORPHA:540
HP:0012116	Abnormal circulating albumin concentration	201294	UNC13D	ORPHA:540
HP:0012116	Abnormal circulating albumin concentration	6813	STXBP2	ORPHA:540
HP:0012116	Abnormal circulating albumin concentration	5604	MAP2K1	ORPHA:389
HP:0012116	Abnormal circulating albumin concentration	4893	NRAS	ORPHA:389
HP:0012116	Abnormal circulating albumin concentration	673	BRAF	ORPHA:389
HP:0012116	Abnormal circulating albumin concentration	58484	NLRC4	OMIM:616050
HP:0012116	Abnormal circulating albumin concentration	23395	LARS2	OMIM:617021
HP:0012116	Abnormal circulating albumin concentration	162	AP1B1	OMIM:242150
HP:0012116	Abnormal circulating albumin concentration	396	ARHGDIA	OMIM:615244
HP:0012116	Abnormal circulating albumin concentration	396	ARHGDIA	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	1294	COL7A1	ORPHA:89842
HP:0012116	Abnormal circulating albumin concentration	65082	VPS33A	OMIM:617303
HP:0012116	Abnormal circulating albumin concentration	65082	VPS33A	ORPHA:505248
HP:0012116	Abnormal circulating albumin concentration	3459	IFNGR1	OMIM:209950
HP:0012116	Abnormal circulating albumin concentration	57122	NUP107	OMIM:616730
HP:0012116	Abnormal circulating albumin concentration	57122	NUP107	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	8526	DGKE	OMIM:615008
HP:0012116	Abnormal circulating albumin concentration	4068	SH2D1A	OMIM:308240
HP:0012116	Abnormal circulating albumin concentration	331	XIAP	OMIM:308240
HP:0012116	Abnormal circulating albumin concentration	4868	NPHS1	OMIM:256300
HP:0012116	Abnormal circulating albumin concentration	4868	NPHS1	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	23607	CD2AP	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	9688	NUP93	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	4643	MYO1E	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	4643	MYO1E	OMIM:614131
HP:0012116	Abnormal circulating albumin concentration	64423	INF2	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	26130	GAPVD1	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	7490	WT1	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	51479	ANKFY1	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	54443	ANLN	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	5800	PTPRO	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	5800	PTPRO	OMIM:614196
HP:0012116	Abnormal circulating albumin concentration	286204	CRB2	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	23165	NUP205	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	2013	EMP2	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	79023	NUP37	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	51196	PLCE1	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	51196	PLCE1	OMIM:610725
HP:0012116	Abnormal circulating albumin concentration	79902	NUP85	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	1285	COL4A3	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	79934	COQ8B	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	79934	COQ8B	OMIM:615573
HP:0012116	Abnormal circulating albumin concentration	23279	NUP160	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	9863	MAGI2	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	9863	MAGI2	OMIM:617609
HP:0012116	Abnormal circulating albumin concentration	81	ACTN4	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	81	ACTN4	OMIM:603278
HP:0012116	Abnormal circulating albumin concentration	7225	TRPC6	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	8542	APOL1	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	54885	TBC1D8B	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	7827	NPHS2	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	7827	NPHS2	OMIM:600995
HP:0012116	Abnormal circulating albumin concentration	83478	ARHGAP24	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	23500	DAAM2	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	5076	PAX2	ORPHA:656
HP:0012116	Abnormal circulating albumin concentration	55687	TRMU	OMIM:613070
HP:0012116	Abnormal circulating albumin concentration	2859	GPR35	ORPHA:171
HP:0012116	Abnormal circulating albumin concentration	10507	SEMA4D	ORPHA:171
HP:0012116	Abnormal circulating albumin concentration	4485	MST1	ORPHA:171
HP:0012116	Abnormal circulating albumin concentration	6925	TCF4	ORPHA:171
HP:0012116	Abnormal circulating albumin concentration	657	BMPR1A	OMIM:174900
HP:0012116	Abnormal circulating albumin concentration	657	BMPR1A	ORPHA:79076
HP:0012116	Abnormal circulating albumin concentration	4089	SMAD4	OMIM:174900
HP:0012116	Abnormal circulating albumin concentration	6578	SLCO2A1	OMIM:614441
HP:0012116	Abnormal circulating albumin concentration	100131801	PET100	OMIM:619055
HP:0012116	Abnormal circulating albumin concentration	7019	TFAM	OMIM:617156
HP:0012116	Abnormal circulating albumin concentration	3394	IRF8	OMIM:226990
HP:0012116	Abnormal circulating albumin concentration	11232	POLG2	OMIM:618528
HP:0012116	Abnormal circulating albumin concentration	191	AHCY	OMIM:613752
HP:0012116	Abnormal circulating albumin concentration	191	AHCY	ORPHA:88618
HP:0012116	Abnormal circulating albumin concentration	26007	TKFC	OMIM:618805
HP:0012116	Abnormal circulating albumin concentration	4358	MPV17	OMIM:256810
HP:0012116	Abnormal circulating albumin concentration	1716	DGUOK	OMIM:251880
HP:0012116	Abnormal circulating albumin concentration	1717	DHCR7	OMIM:270400
HP:0012116	Abnormal circulating albumin concentration	4547	MTTP	ORPHA:14
HP:0012116	Abnormal circulating albumin concentration	567	B2M	OMIM:241600
HP:0012116	Abnormal circulating albumin concentration	54840	APTX	OMIM:208920
HP:0012116	Abnormal circulating albumin concentration	4645	MYO5B	OMIM:619868
HP:0012116	Abnormal circulating albumin concentration	5728	PTEN	ORPHA:79076
HP:0012116	Abnormal circulating albumin concentration	950	SCARB2	OMIM:254900
HP:0012116	Abnormal circulating albumin concentration	79053	ALG8	OMIM:608104
HP:0012116	Abnormal circulating albumin concentration	55644	OSGEP	OMIM:617729
HP:0012116	Abnormal circulating albumin concentration	5373	PMM2	OMIM:212065
HP:0012116	Abnormal circulating albumin concentration	5373	PMM2	ORPHA:79318
HP:0012116	Abnormal circulating albumin concentration	51128	SAR1B	OMIM:246700
HP:0012116	Abnormal circulating albumin concentration	8879	SGPL1	OMIM:617575
HP:0012116	Abnormal circulating albumin concentration	213	ALB	OMIM:616000
HP:0012116	Abnormal circulating albumin concentration	213	ALB	ORPHA:86816
HP:0012116	Abnormal circulating albumin concentration	23533	PIK3R5	ORPHA:64753
HP:0012116	Abnormal circulating albumin concentration	23064	SETX	ORPHA:64753
HP:0012116	Abnormal circulating albumin concentration	10056	FARSB	OMIM:613658
HP:0012116	Abnormal circulating albumin concentration	2335	FN1	ORPHA:84090
HP:0012116	Abnormal circulating albumin concentration	3675	ITGA3	OMIM:614748
HP:0012116	Abnormal circulating albumin concentration	56052	ALG1	ORPHA:79327
HP:0012116	Abnormal circulating albumin concentration	3594	IL12RB1	ORPHA:186
HP:0012116	Abnormal circulating albumin concentration	23534	TNPO3	ORPHA:186
HP:0012116	Abnormal circulating albumin concentration	3592	IL12A	ORPHA:186
HP:0012116	Abnormal circulating albumin concentration	6689	SPIB	ORPHA:186
HP:0012116	Abnormal circulating albumin concentration	5450	POU2AF1	ORPHA:186
HP:0012116	Abnormal circulating albumin concentration	9966	TNFSF15	ORPHA:186
HP:0012116	Abnormal circulating albumin concentration	79258	MMEL1	ORPHA:186
HP:0012116	Abnormal circulating albumin concentration	3663	IRF5	ORPHA:186
HP:0012116	Abnormal circulating albumin concentration	100147744	RNU7-1	OMIM:619487
HP:0012116	Abnormal circulating albumin concentration	130340	AP1S3	ORPHA:247353
HP:0012116	Abnormal circulating albumin concentration	26525	IL36RN	ORPHA:247353
HP:0012116	Abnormal circulating albumin concentration	10165	SLC25A13	ORPHA:247598
HP:0012116	Abnormal circulating albumin concentration	10165	SLC25A13	ORPHA:247585
HP:0012116	Abnormal circulating albumin concentration	55072	RNF31	OMIM:620632
HP:0012116	Abnormal circulating albumin concentration	51703	ACSL5	OMIM:620357
HP:0012116	Abnormal circulating albumin concentration	540	ATP7B	OMIM:277900
HP:0012116	Abnormal circulating albumin concentration	4351	MPI	ORPHA:79319
HP:0012116	Abnormal circulating albumin concentration	4351	MPI	OMIM:602579
HP:0012116	Abnormal circulating albumin concentration	79989	IFT56	OMIM:619534
HP:0012116	Abnormal circulating albumin concentration	11284	PNKP	OMIM:616267
HP:0012116	Abnormal circulating albumin concentration	9652	SKIC3	OMIM:222470
HP:0012116	Abnormal circulating albumin concentration	2193	FARSA	OMIM:619013
HP:0012116	Abnormal circulating albumin concentration	125988	MICOS13	OMIM:618329
HP:0012116	Abnormal circulating albumin concentration	50943	FOXP3	ORPHA:37042
HP:0012116	Abnormal circulating albumin concentration	29929	ALG6	ORPHA:79320
HP:0012116	Abnormal circulating albumin concentration	2072	ERCC4	OMIM:610965
HP:0012116	Abnormal circulating albumin concentration	147372	CCBE1	OMIM:235510
HP:0012116	Abnormal circulating albumin concentration	79087	ALG12	ORPHA:79324
HP:0012116	Abnormal circulating albumin concentration	9451	EIF2AK3	ORPHA:1667
HP:0012116	Abnormal circulating albumin concentration	6850	SYK	OMIM:619381
HP:0012116	Abnormal circulating albumin concentration	1604	CD55	OMIM:226300
HP:0012116	Abnormal circulating albumin concentration	8694	DGAT1	OMIM:615863
HP:0012116	Abnormal circulating albumin concentration	57107	PDSS2	OMIM:614652
HP:0012116	Abnormal circulating albumin concentration	1828	DSG1	OMIM:615508
HP:0012116	Abnormal circulating albumin concentration	3852	KRT5	ORPHA:79396
HP:0012116	Abnormal circulating albumin concentration	3861	KRT14	ORPHA:79396
HP:0012118	Laryngeal carcinoma	4292	MLH1	OMIM:158320
HP:0012118	Laryngeal carcinoma	4292	MLH1	ORPHA:144
HP:0012118	Laryngeal carcinoma	4436	MSH2	OMIM:158320
HP:0012118	Laryngeal carcinoma	4436	MSH2	ORPHA:144
HP:0012118	Laryngeal carcinoma	4072	EPCAM	ORPHA:144
HP:0012118	Laryngeal carcinoma	5395	PMS2	ORPHA:144
HP:0012118	Laryngeal carcinoma	7048	TGFBR2	ORPHA:144
HP:0012118	Laryngeal carcinoma	3845	KRAS	ORPHA:144
HP:0012118	Laryngeal carcinoma	5290	PIK3CA	ORPHA:144
HP:0012118	Laryngeal carcinoma	2956	MSH6	ORPHA:144
HP:0012118	Laryngeal carcinoma	5378	PMS1	ORPHA:144
HP:0012118	Laryngeal carcinoma	284654	RSPO1	OMIM:610644
HP:0012119	Methemoglobinemia	3081	HGD	ORPHA:56
HP:0012119	Methemoglobinemia	3039	HBA1	OMIM:617973
HP:0012119	Methemoglobinemia	1727	CYB5R3	OMIM:250800
HP:0012119	Methemoglobinemia	1727	CYB5R3	ORPHA:621
HP:0012119	Methemoglobinemia	3048	HBG2	OMIM:613977
HP:0012119	Methemoglobinemia	3043	HBB	OMIM:617971
HP:0012119	Methemoglobinemia	1528	CYB5A	ORPHA:621
HP:0012119	Methemoglobinemia	1528	CYB5A	OMIM:250790
HP:0012120	Methylmalonic aciduria	197322	ACSF3	OMIM:614265
HP:0012120	Methylmalonic aciduria	197322	ACSF3	ORPHA:289504
HP:0012120	Methylmalonic aciduria	119559	SFXN4	OMIM:615578
HP:0012120	Methylmalonic aciduria	25974	MMACHC	ORPHA:79282
HP:0012120	Methylmalonic aciduria	25974	MMACHC	OMIM:277400
HP:0012120	Methylmalonic aciduria	3054	HCFC1	OMIM:309541
HP:0012120	Methylmalonic aciduria	23417	MLYCD	OMIM:248360
HP:0012120	Methylmalonic aciduria	4329	ALDH6A1	OMIM:614105
HP:0012120	Methylmalonic aciduria	6948	TCN2	OMIM:275350
HP:0012120	Methylmalonic aciduria	6948	TCN2	ORPHA:859
HP:0012120	Methylmalonic aciduria	55788	LMBRD1	ORPHA:79284
HP:0012120	Methylmalonic aciduria	55788	LMBRD1	OMIM:277380
HP:0012120	Methylmalonic aciduria	27249	MMADHC	OMIM:277410
HP:0012120	Methylmalonic aciduria	4594	MMUT	OMIM:251000
HP:0012120	Methylmalonic aciduria	84693	MCEE	OMIM:251120
HP:0012120	Methylmalonic aciduria	166785	MMAA	OMIM:251100
HP:0012120	Methylmalonic aciduria	4552	MTRR	OMIM:236270
HP:0012120	Methylmalonic aciduria	8802	SUCLG1	OMIM:245400
HP:0012120	Methylmalonic aciduria	8802	SUCLG1	ORPHA:17
HP:0012120	Methylmalonic aciduria	8803	SUCLA2	OMIM:612073
HP:0012120	Methylmalonic aciduria	8803	SUCLA2	ORPHA:1933
HP:0012120	Methylmalonic aciduria	132001	TAMM41	OMIM:620139
HP:0012120	Methylmalonic aciduria	51293	CD320	OMIM:613646
HP:0012120	Methylmalonic aciduria	5826	ABCD4	OMIM:614857
HP:0012120	Methylmalonic aciduria	4548	MTR	OMIM:250940
HP:0012120	Methylmalonic aciduria	326625	MMAB	OMIM:251110
HP:0012120	Methylmalonic aciduria	5052	PRDX1	OMIM:277400
HP:0012121	Panuveitis	8517	IKBKG	OMIM:301081
HP:0012121	Panuveitis	149233	IL23R	ORPHA:117
HP:0012121	Panuveitis	6775	STAT4	ORPHA:117
HP:0012121	Panuveitis	3586	IL10	ORPHA:117
HP:0012121	Panuveitis	4210	MEFV	ORPHA:117
HP:0012121	Panuveitis	1230	CCR1	ORPHA:117
HP:0012121	Panuveitis	355	FAS	ORPHA:117
HP:0012121	Panuveitis	3592	IL12A	ORPHA:117
HP:0012121	Panuveitis	101928376	IL12A-AS1	ORPHA:117
HP:0012121	Panuveitis	3106	HLA-B	ORPHA:117
HP:0012121	Panuveitis	7099	TLR4	ORPHA:117
HP:0012121	Panuveitis	3459	IFNGR1	ORPHA:117
HP:0012121	Panuveitis	720	C4A	ORPHA:117
HP:0012121	Panuveitis	337867	UBAC2	ORPHA:117
HP:0012121	Panuveitis	51752	ERAP1	ORPHA:117
HP:0012121	Panuveitis	8302	KLRC4	ORPHA:117
HP:0012122	Anterior uveitis	355	FAS	ORPHA:3437
HP:0012122	Anterior uveitis	26191	PTPN22	ORPHA:3437
HP:0012122	Anterior uveitis	26191	PTPN22	ORPHA:85408
HP:0012122	Anterior uveitis	10273	STUB1	ORPHA:412057
HP:0012122	Anterior uveitis	6775	STAT4	ORPHA:85408
HP:0012122	Anterior uveitis	3560	IL2RB	ORPHA:85408
HP:0012122	Anterior uveitis	79722	ANKRD55	ORPHA:85408
HP:0012122	Anterior uveitis	919	CD247	ORPHA:85408
HP:0012122	Anterior uveitis	3559	IL2RA	ORPHA:85408
HP:0012122	Anterior uveitis	5771	PTPN2	ORPHA:85408
HP:0012122	Anterior uveitis	326	AIRE	OMIM:240300
HP:0012122	Anterior uveitis	64127	NOD2	ORPHA:90340
HP:0012122	Anterior uveitis	144811	LACC1	ORPHA:85414
HP:0012122	Anterior uveitis	4282	MIF	ORPHA:85414
HP:0012122	Anterior uveitis	3123	HLA-DRB1	ORPHA:85414
HP:0012122	Anterior uveitis	3569	IL6	ORPHA:85414
HP:0012122	Anterior uveitis	7128	TNFAIP3	OMIM:616744
HP:0012122	Anterior uveitis	8517	IKBKG	OMIM:301081
HP:0012122	Anterior uveitis	3106	HLA-B	OMIM:106300
HP:0012123	Posterior uveitis	330	BIRC3	ORPHA:52417
HP:0012123	Posterior uveitis	10892	MALT1	ORPHA:52417
HP:0012123	Posterior uveitis	27086	FOXP1	ORPHA:52417
HP:0012123	Posterior uveitis	3492	IGH	ORPHA:52417
HP:0012123	Posterior uveitis	8915	BCL10	ORPHA:52417
HP:0012123	Posterior uveitis	64127	NOD2	ORPHA:90340
HP:0012125	Prostate cancer	672	BRCA1	ORPHA:145
HP:0012125	Prostate cancer	7157	TP53	ORPHA:145
HP:0012125	Prostate cancer	7157	TP53	OMIM:151623
HP:0012125	Prostate cancer	7157	TP53	ORPHA:524
HP:0012125	Prostate cancer	5892	RAD51D	ORPHA:145
HP:0012125	Prostate cancer	675	BRCA2	ORPHA:145
HP:0012125	Prostate cancer	675	BRCA2	OMIM:176807
HP:0012125	Prostate cancer	5728	PTEN	ORPHA:145
HP:0012125	Prostate cancer	5728	PTEN	OMIM:176807
HP:0012125	Prostate cancer	10111	RAD50	ORPHA:145
HP:0012125	Prostate cancer	580	BARD1	ORPHA:145
HP:0012125	Prostate cancer	5888	RAD51	ORPHA:145
HP:0012125	Prostate cancer	4683	NBN	ORPHA:145
HP:0012125	Prostate cancer	5889	RAD51C	ORPHA:145
HP:0012125	Prostate cancer	83990	BRIP1	ORPHA:145
HP:0012125	Prostate cancer	4361	MRE11	ORPHA:145
HP:0012125	Prostate cancer	79728	PALB2	ORPHA:145
HP:0012125	Prostate cancer	11200	CHEK2	ORPHA:145
HP:0012125	Prostate cancer	11200	CHEK2	OMIM:176807
HP:0012125	Prostate cancer	11200	CHEK2	ORPHA:524
HP:0012125	Prostate cancer	2048	EPHB2	OMIM:603688
HP:0012125	Prostate cancer	463	ZFHX3	OMIM:176807
HP:0012125	Prostate cancer	4601	MXI1	OMIM:176807
HP:0012125	Prostate cancer	8379	MAD1L1	OMIM:176807
HP:0012125	Prostate cancer	1316	KLF6	OMIM:176807
HP:0012125	Prostate cancer	54894	RNF43	ORPHA:157798
HP:0012125	Prostate cancer	6041	RNASEL	OMIM:601518
HP:0012125	Prostate cancer	26585	GREM1	ORPHA:157794
HP:0012125	Prostate cancer	657	BMPR1A	ORPHA:157794
HP:0012125	Prostate cancer	2304	FOXE1	OMIM:616534
HP:0012125	Prostate cancer	4665	NAB2	ORPHA:2126
HP:0012125	Prostate cancer	6778	STAT6	ORPHA:2126
HP:0012125	Prostate cancer	4913	NTHL1	OMIM:616415
HP:0012125	Prostate cancer	324	APC	ORPHA:79665
HP:0012125	Prostate cancer	7373	COL14A1	ORPHA:79501
HP:0012125	Prostate cancer	79719	AAGAB	ORPHA:79501
HP:0012125	Prostate cancer	1029	CDKN2A	ORPHA:524
HP:0012125	Prostate cancer	4193	MDM2	ORPHA:524
HP:0012126	Stomach cancer	641	BLM	ORPHA:125
HP:0012126	Stomach cancer	9184	BUB3	ORPHA:1052
HP:0012126	Stomach cancer	699	BUB1	ORPHA:1052
HP:0012126	Stomach cancer	9702	CEP57	ORPHA:1052
HP:0012126	Stomach cancer	9319	TRIP13	ORPHA:1052
HP:0012126	Stomach cancer	701	BUB1B	ORPHA:1052
HP:0012126	Stomach cancer	999	CDH1	OMIM:137215
HP:0012126	Stomach cancer	64218	SEMA4A	ORPHA:440437
HP:0012126	Stomach cancer	472	ATM	ORPHA:440437
HP:0012126	Stomach cancer	5426	POLE	ORPHA:440437
HP:0012126	Stomach cancer	675	BRCA2	ORPHA:440437
HP:0012126	Stomach cancer	657	BMPR1A	ORPHA:440437
HP:0012126	Stomach cancer	6224	RPS20	ORPHA:440437
HP:0012126	Stomach cancer	4595	MUTYH	ORPHA:440437
HP:0012126	Stomach cancer	4595	MUTYH	OMIM:613659
HP:0012126	Stomach cancer	5424	POLD1	ORPHA:440437
HP:0012126	Stomach cancer	11200	CHEK2	ORPHA:440437
HP:0012126	Stomach cancer	11200	CHEK2	ORPHA:524
HP:0012126	Stomach cancer	11200	CHEK2	OMIM:609265
HP:0012126	Stomach cancer	6794	STK11	ORPHA:2869
HP:0012126	Stomach cancer	3553	IL1B	OMIM:613659
HP:0012126	Stomach cancer	2064	ERBB2	OMIM:613659
HP:0012126	Stomach cancer	3557	IL1RN	OMIM:613659
HP:0012126	Stomach cancer	324	APC	OMIM:613659
HP:0012126	Stomach cancer	843	CASP10	OMIM:613659
HP:0012126	Stomach cancer	3659	IRF1	OMIM:613659
HP:0012126	Stomach cancer	2263	FGFR2	OMIM:613659
HP:0012126	Stomach cancer	3845	KRAS	OMIM:613659
HP:0012126	Stomach cancer	5290	PIK3CA	OMIM:613659
HP:0012126	Stomach cancer	1316	KLF6	OMIM:613659
HP:0012126	Stomach cancer	4437	MSH3	ORPHA:480536
HP:0012126	Stomach cancer	7373	COL14A1	ORPHA:79501
HP:0012126	Stomach cancer	79719	AAGAB	ORPHA:79501
HP:0012126	Stomach cancer	7157	TP53	ORPHA:524
HP:0012126	Stomach cancer	1029	CDKN2A	ORPHA:524
HP:0012126	Stomach cancer	4193	MDM2	ORPHA:524
HP:0012127	Uraciluria	1806	DPYD	OMIM:274270
HP:0012127	Uraciluria	1806	DPYD	ORPHA:1675
HP:0012127	Uraciluria	1807	DPYS	OMIM:222748
HP:0012128	Basal ganglia necrosis	137682	NDUFAF6	OMIM:618239
HP:0012128	Basal ganglia necrosis	9361	LONP1	ORPHA:79243
HP:0012128	Basal ganglia necrosis	5160	PDHA1	ORPHA:79243
HP:0012129	Abnormality of bone marrow stromal cells	6208	RPS14	ORPHA:86841
HP:0012130	Abnormal erythroid lineage cell morphology	2065	ERBB3	OMIM:133180
HP:0012130	Abnormal erythroid lineage cell morphology	150274	HSCB	OMIM:619523
HP:0012130	Abnormal erythroid lineage cell morphology	3313	HSPA9	OMIM:182170
HP:0012130	Abnormal erythroid lineage cell morphology	54790	TET2	ORPHA:75564
HP:0012130	Abnormal erythroid lineage cell morphology	23451	SF3B1	ORPHA:75564
HP:0012130	Abnormal erythroid lineage cell morphology	9493	KIF23	ORPHA:98870
HP:0012130	Abnormal erythroid lineage cell morphology	29127	RACGAP1	ORPHA:98870
HP:0012130	Abnormal erythroid lineage cell morphology	114803	MYSM1	ORPHA:508542
HP:0012130	Abnormal erythroid lineage cell morphology	7317	UBA1	OMIM:301054
HP:0012130	Abnormal erythroid lineage cell morphology	6573	SLC19A1	OMIM:601775
HP:0012130	Abnormal erythroid lineage cell morphology	148867	SLC30A7	OMIM:620501
HP:0012130	Abnormal erythroid lineage cell morphology	51428	DDX41	OMIM:616871
HP:0012130	Abnormal erythroid lineage cell morphology	84529	CDIN1	OMIM:615631
HP:0012131	Abnormal number of erythroid precursors	5313	PKLR	OMIM:266200
HP:0012131	Abnormal number of erythroid precursors	22	ABCB7	OMIM:301310
HP:0012131	Abnormal number of erythroid precursors	9663	LPIN2	OMIM:609628
HP:0012131	Abnormal number of erythroid precursors	80324	PUS1	OMIM:600462
HP:0012131	Abnormal number of erythroid precursors	3043	HBB	ORPHA:231222
HP:0012131	Abnormal number of erythroid precursors	23395	LARS2	OMIM:617021
HP:0012131	Abnormal number of erythroid precursors	5230	PGK1	OMIM:300653
HP:0012131	Abnormal number of erythroid precursors	51218	GLRX5	OMIM:616860
HP:0012131	Abnormal number of erythroid precursors	146059	CDAN1	OMIM:224120
HP:0012131	Abnormal number of erythroid precursors	10661	KLF1	OMIM:613673
HP:0012131	Abnormal number of erythroid precursors	4891	SLC11A2	OMIM:206100
HP:0012131	Abnormal number of erythroid precursors	84529	CDIN1	OMIM:615631
HP:0012131	Abnormal number of erythroid precursors	2065	ERBB3	OMIM:133180
HP:0012131	Abnormal number of erythroid precursors	2623	GATA1	OMIM:301083
HP:0012131	Abnormal number of erythroid precursors	2623	GATA1	ORPHA:79277
HP:0012131	Abnormal number of erythroid precursors	7390	UROS	ORPHA:79277
HP:0012131	Abnormal number of erythroid precursors	54790	TET2	ORPHA:75564
HP:0012131	Abnormal number of erythroid precursors	23451	SF3B1	ORPHA:75564
HP:0012131	Abnormal number of erythroid precursors	7389	UROD	ORPHA:95159
HP:0012131	Abnormal number of erythroid precursors	5277	PIGA	ORPHA:447
HP:0012131	Abnormal number of erythroid precursors	55027	HEATR3	OMIM:620072
HP:0012131	Abnormal number of erythroid precursors	55027	HEATR3	ORPHA:124
HP:0012131	Abnormal number of erythroid precursors	6138	RPL15	ORPHA:124
HP:0012131	Abnormal number of erythroid precursors	6224	RPS20	ORPHA:124
HP:0012131	Abnormal number of erythroid precursors	6165	RPL35A	ORPHA:124
HP:0012131	Abnormal number of erythroid precursors	6165	RPL35A	OMIM:612528
HP:0012131	Abnormal number of erythroid precursors	6132	RPL8	ORPHA:124
HP:0012131	Abnormal number of erythroid precursors	6223	RPS19	ORPHA:124
HP:0012131	Abnormal number of erythroid precursors	6232	RPS27	ORPHA:124
HP:0012131	Abnormal number of erythroid precursors	6160	RPL31	ORPHA:124
HP:0012131	Abnormal number of erythroid precursors	6201	RPS7	ORPHA:124
HP:0012131	Abnormal number of erythroid precursors	6155	RPL27	ORPHA:124
HP:0012131	Abnormal number of erythroid precursors	6234	RPS28	ORPHA:124
HP:0012131	Abnormal number of erythroid precursors	6135	RPL11	ORPHA:124
HP:0012131	Abnormal number of erythroid precursors	6229	RPS24	ORPHA:124
HP:0012131	Abnormal number of erythroid precursors	6125	RPL5	ORPHA:124
HP:0012131	Abnormal number of erythroid precursors	6204	RPS10	ORPHA:124
HP:0012131	Abnormal number of erythroid precursors	6133	RPL9	ORPHA:124
HP:0012131	Abnormal number of erythroid precursors	6231	RPS26	ORPHA:124
HP:0012131	Abnormal number of erythroid precursors	11224	RPL35	ORPHA:124
HP:0012131	Abnormal number of erythroid precursors	11224	RPL35	OMIM:618312
HP:0012131	Abnormal number of erythroid precursors	6218	RPS17	ORPHA:124
HP:0012131	Abnormal number of erythroid precursors	6218	RPS17	OMIM:612527
HP:0012131	Abnormal number of erythroid precursors	6154	RPL26	ORPHA:124
HP:0012131	Abnormal number of erythroid precursors	6210	RPS15A	ORPHA:124
HP:0012131	Abnormal number of erythroid precursors	6210	RPS15A	OMIM:618313
HP:0012131	Abnormal number of erythroid precursors	90121	TSR2	ORPHA:124
HP:0012131	Abnormal number of erythroid precursors	6141	RPL18	ORPHA:124
HP:0012131	Abnormal number of erythroid precursors	6141	RPL18	OMIM:618310
HP:0012131	Abnormal number of erythroid precursors	6235	RPS29	ORPHA:124
HP:0012131	Abnormal number of erythroid precursors	51816	ADA2	ORPHA:124
HP:0012131	Abnormal number of erythroid precursors	6208	RPS14	OMIM:153550
HP:0012131	Abnormal number of erythroid precursors	6208	RPS14	ORPHA:86841
HP:0012131	Abnormal number of erythroid precursors	7157	TP53	OMIM:618165
HP:0012131	Abnormal number of erythroid precursors	92579	G6PC3	OMIM:612541
HP:0012131	Abnormal number of erythroid precursors	6948	TCN2	OMIM:275350
HP:0012131	Abnormal number of erythroid precursors	4860	PNP	OMIM:613179
HP:0012131	Abnormal number of erythroid precursors	2056	EPO	OMIM:617911
HP:0012131	Abnormal number of erythroid precursors	1493	CTLA4	ORPHA:436159
HP:0012131	Abnormal number of erythroid precursors	2694	CBLIF	OMIM:261000
HP:0012132	Erythroid hyperplasia	5313	PKLR	OMIM:266200
HP:0012132	Erythroid hyperplasia	22	ABCB7	OMIM:301310
HP:0012132	Erythroid hyperplasia	9663	LPIN2	OMIM:609628
HP:0012132	Erythroid hyperplasia	80324	PUS1	OMIM:600462
HP:0012132	Erythroid hyperplasia	3043	HBB	ORPHA:231222
HP:0012132	Erythroid hyperplasia	23395	LARS2	OMIM:617021
HP:0012132	Erythroid hyperplasia	5230	PGK1	OMIM:300653
HP:0012132	Erythroid hyperplasia	51218	GLRX5	OMIM:616860
HP:0012132	Erythroid hyperplasia	146059	CDAN1	OMIM:224120
HP:0012132	Erythroid hyperplasia	10661	KLF1	OMIM:613673
HP:0012132	Erythroid hyperplasia	4891	SLC11A2	OMIM:206100
HP:0012132	Erythroid hyperplasia	84529	CDIN1	OMIM:615631
HP:0012132	Erythroid hyperplasia	2065	ERBB3	OMIM:133180
HP:0012132	Erythroid hyperplasia	2623	GATA1	OMIM:301083
HP:0012132	Erythroid hyperplasia	2623	GATA1	ORPHA:79277
HP:0012132	Erythroid hyperplasia	7390	UROS	ORPHA:79277
HP:0012132	Erythroid hyperplasia	54790	TET2	ORPHA:75564
HP:0012132	Erythroid hyperplasia	23451	SF3B1	ORPHA:75564
HP:0012132	Erythroid hyperplasia	7389	UROD	ORPHA:95159
HP:0012132	Erythroid hyperplasia	5277	PIGA	ORPHA:447
HP:0012132	Erythroid hyperplasia	2694	CBLIF	OMIM:261000
HP:0012133	Erythroid hypoplasia	55027	HEATR3	OMIM:620072
HP:0012133	Erythroid hypoplasia	55027	HEATR3	ORPHA:124
HP:0012133	Erythroid hypoplasia	6138	RPL15	ORPHA:124
HP:0012133	Erythroid hypoplasia	6224	RPS20	ORPHA:124
HP:0012133	Erythroid hypoplasia	6165	RPL35A	ORPHA:124
HP:0012133	Erythroid hypoplasia	6165	RPL35A	OMIM:612528
HP:0012133	Erythroid hypoplasia	6132	RPL8	ORPHA:124
HP:0012133	Erythroid hypoplasia	6223	RPS19	ORPHA:124
HP:0012133	Erythroid hypoplasia	6232	RPS27	ORPHA:124
HP:0012133	Erythroid hypoplasia	6160	RPL31	ORPHA:124
HP:0012133	Erythroid hypoplasia	6201	RPS7	ORPHA:124
HP:0012133	Erythroid hypoplasia	6155	RPL27	ORPHA:124
HP:0012133	Erythroid hypoplasia	6234	RPS28	ORPHA:124
HP:0012133	Erythroid hypoplasia	6135	RPL11	ORPHA:124
HP:0012133	Erythroid hypoplasia	6229	RPS24	ORPHA:124
HP:0012133	Erythroid hypoplasia	6125	RPL5	ORPHA:124
HP:0012133	Erythroid hypoplasia	6204	RPS10	ORPHA:124
HP:0012133	Erythroid hypoplasia	2623	GATA1	ORPHA:124
HP:0012133	Erythroid hypoplasia	6133	RPL9	ORPHA:124
HP:0012133	Erythroid hypoplasia	6231	RPS26	ORPHA:124
HP:0012133	Erythroid hypoplasia	11224	RPL35	ORPHA:124
HP:0012133	Erythroid hypoplasia	11224	RPL35	OMIM:618312
HP:0012133	Erythroid hypoplasia	6218	RPS17	ORPHA:124
HP:0012133	Erythroid hypoplasia	6218	RPS17	OMIM:612527
HP:0012133	Erythroid hypoplasia	6154	RPL26	ORPHA:124
HP:0012133	Erythroid hypoplasia	6210	RPS15A	ORPHA:124
HP:0012133	Erythroid hypoplasia	6210	RPS15A	OMIM:618313
HP:0012133	Erythroid hypoplasia	90121	TSR2	ORPHA:124
HP:0012133	Erythroid hypoplasia	6141	RPL18	ORPHA:124
HP:0012133	Erythroid hypoplasia	6141	RPL18	OMIM:618310
HP:0012133	Erythroid hypoplasia	6235	RPS29	ORPHA:124
HP:0012133	Erythroid hypoplasia	51816	ADA2	ORPHA:124
HP:0012133	Erythroid hypoplasia	6208	RPS14	OMIM:153550
HP:0012133	Erythroid hypoplasia	6208	RPS14	ORPHA:86841
HP:0012133	Erythroid hypoplasia	7157	TP53	OMIM:618165
HP:0012133	Erythroid hypoplasia	92579	G6PC3	OMIM:612541
HP:0012133	Erythroid hypoplasia	54790	TET2	ORPHA:98826
HP:0012133	Erythroid hypoplasia	6948	TCN2	OMIM:275350
HP:0012134	Dysplastic erythropoesis	55240	STEAP3	ORPHA:300298
HP:0012135	Abnormal granulocytopoietic cell morphology	5914	RARA	OMIM:612376
HP:0012135	Abnormal granulocytopoietic cell morphology	2623	GATA1	OMIM:300835
HP:0012135	Abnormal granulocytopoietic cell morphology	6730	SRP68	OMIM:620534
HP:0012135	Abnormal granulocytopoietic cell morphology	54790	TET2	ORPHA:75564
HP:0012135	Abnormal granulocytopoietic cell morphology	23451	SF3B1	ORPHA:75564
HP:0012135	Abnormal granulocytopoietic cell morphology	1441	CSF3R	OMIM:162830
HP:0012135	Abnormal granulocytopoietic cell morphology	171023	ASXL1	ORPHA:98849
HP:0012135	Abnormal granulocytopoietic cell morphology	3815	KIT	ORPHA:98849
HP:0012135	Abnormal granulocytopoietic cell morphology	6427	SRSF2	ORPHA:98849
HP:0012135	Abnormal granulocytopoietic cell morphology	3394	IRF8	OMIM:226990
HP:0012135	Abnormal granulocytopoietic cell morphology	6154	RPL26	OMIM:614900
HP:0012135	Abnormal granulocytopoietic cell morphology	6141	RPL18	OMIM:618310
HP:0012135	Abnormal granulocytopoietic cell morphology	3579	CXCR2	OMIM:619407
HP:0012135	Abnormal granulocytopoietic cell morphology	23308	ICOSLG	OMIM:620825
HP:0012135	Abnormal granulocytopoietic cell morphology	7852	CXCR4	OMIM:193670
HP:0012135	Abnormal granulocytopoietic cell morphology	7852	CXCR4	ORPHA:51636
HP:0012136	Dysplastic granulopoesis	6730	SRP68	OMIM:620534
HP:0012136	Dysplastic granulopoesis	54790	TET2	ORPHA:75564
HP:0012136	Dysplastic granulopoesis	23451	SF3B1	ORPHA:75564
HP:0012137	Abnormal number of granulocyte precursors	54790	TET2	ORPHA:75564
HP:0012137	Abnormal number of granulocyte precursors	23451	SF3B1	ORPHA:75564
HP:0012137	Abnormal number of granulocyte precursors	1441	CSF3R	OMIM:162830
HP:0012137	Abnormal number of granulocyte precursors	171023	ASXL1	ORPHA:98849
HP:0012137	Abnormal number of granulocyte precursors	3815	KIT	ORPHA:98849
HP:0012137	Abnormal number of granulocyte precursors	6427	SRSF2	ORPHA:98849
HP:0012137	Abnormal number of granulocyte precursors	3394	IRF8	OMIM:226990
HP:0012137	Abnormal number of granulocyte precursors	6154	RPL26	OMIM:614900
HP:0012137	Abnormal number of granulocyte precursors	6141	RPL18	OMIM:618310
HP:0012138	Granulocytic hyperplasia	1441	CSF3R	OMIM:162830
HP:0012138	Granulocytic hyperplasia	171023	ASXL1	ORPHA:98849
HP:0012138	Granulocytic hyperplasia	54790	TET2	ORPHA:98849
HP:0012138	Granulocytic hyperplasia	3815	KIT	ORPHA:98849
HP:0012138	Granulocytic hyperplasia	6427	SRSF2	ORPHA:98849
HP:0012138	Granulocytic hyperplasia	3394	IRF8	OMIM:226990
HP:0012139	Granulocytic hypoplasia	6154	RPL26	OMIM:614900
HP:0012139	Granulocytic hypoplasia	6141	RPL18	OMIM:618310
HP:0004332	Abnormal lymphocyte morphology	2137	EXTL3	ORPHA:508533
HP:0004332	Abnormal lymphocyte morphology	2137	EXTL3	OMIM:617425
HP:0004332	Abnormal lymphocyte morphology	355	FAS	ORPHA:3261
HP:0004332	Abnormal lymphocyte morphology	356	FASLG	ORPHA:3261
HP:0004332	Abnormal lymphocyte morphology	843	CASP10	ORPHA:3261
HP:0004332	Abnormal lymphocyte morphology	26235	FBXL4	OMIM:615471
HP:0004332	Abnormal lymphocyte morphology	5728	PTEN	OMIM:605309
HP:0004332	Abnormal lymphocyte morphology	5728	PTEN	OMIM:158350
HP:0004332	Abnormal lymphocyte morphology	54892	NCAPG2	OMIM:618460
HP:0004332	Abnormal lymphocyte morphology	23308	ICOSLG	OMIM:620825
HP:0004332	Abnormal lymphocyte morphology	5238	PGM3	ORPHA:443811
HP:0004332	Abnormal lymphocyte morphology	5238	PGM3	OMIM:615816
HP:0004332	Abnormal lymphocyte morphology	5880	RAC2	OMIM:618986
HP:0004332	Abnormal lymphocyte morphology	22800	RRAS2	OMIM:618624
HP:0004332	Abnormal lymphocyte morphology	6775	STAT4	ORPHA:93552
HP:0004332	Abnormal lymphocyte morphology	6775	STAT4	OMIM:620443
HP:0004332	Abnormal lymphocyte morphology	6696	SPP1	ORPHA:93552
HP:0004332	Abnormal lymphocyte morphology	6303	SAT1	ORPHA:93552
HP:0004332	Abnormal lymphocyte morphology	3654	IRAK1	ORPHA:93552
HP:0004332	Abnormal lymphocyte morphology	9094	UNC119	OMIM:615518
HP:0004332	Abnormal lymphocyte morphology	7174	TPP2	ORPHA:444463
HP:0004332	Abnormal lymphocyte morphology	114803	MYSM1	ORPHA:508542
HP:0004332	Abnormal lymphocyte morphology	4522	MTHFD1	OMIM:617780
HP:0004332	Abnormal lymphocyte morphology	23149	FCHO1	OMIM:619164
HP:0004332	Abnormal lymphocyte morphology	11151	CORO1A	OMIM:615401
HP:0004332	Abnormal lymphocyte morphology	56259	CTNNBL1	OMIM:619846
HP:0004332	Abnormal lymphocyte morphology	26277	TINF2	OMIM:127550
HP:0004332	Abnormal lymphocyte morphology	7012	TERC	OMIM:127550
HP:0004332	Abnormal lymphocyte morphology	7015	TERT	OMIM:127550
HP:0004332	Abnormal lymphocyte morphology	5698	PSMB9	OMIM:620796
HP:0004332	Abnormal lymphocyte morphology	9837	GINS1	OMIM:617827
HP:0004332	Abnormal lymphocyte morphology	1991	ELANE	ORPHA:2686
HP:0004332	Abnormal lymphocyte morphology	1991	ELANE	ORPHA:486
HP:0004332	Abnormal lymphocyte morphology	79840	NHEJ1	ORPHA:169079
HP:0004332	Abnormal lymphocyte morphology	51816	ADA2	OMIM:182410
HP:0004332	Abnormal lymphocyte morphology	51816	ADA2	OMIM:615688
HP:0004332	Abnormal lymphocyte morphology	84196	USP48	ORPHA:96253
HP:0004332	Abnormal lymphocyte morphology	7157	TP53	ORPHA:96253
HP:0004332	Abnormal lymphocyte morphology	9101	USP8	ORPHA:96253
HP:0004332	Abnormal lymphocyte morphology	64072	CDH23	ORPHA:96253
HP:0004332	Abnormal lymphocyte morphology	2908	NR3C1	ORPHA:96253
HP:0004332	Abnormal lymphocyte morphology	673	BRAF	ORPHA:96253
HP:0004332	Abnormal lymphocyte morphology	546	ATRX	ORPHA:96253
HP:0004332	Abnormal lymphocyte morphology	919	CD247	ORPHA:169160
HP:0004332	Abnormal lymphocyte morphology	54	ACP5	OMIM:607944
HP:0004332	Abnormal lymphocyte morphology	3930	LBR	OMIM:613471
HP:0004332	Abnormal lymphocyte morphology	50619	DEF6	OMIM:619573
HP:0004332	Abnormal lymphocyte morphology	7128	TNFAIP3	OMIM:616744
HP:0004332	Abnormal lymphocyte morphology	1503	CTPS1	OMIM:615897
HP:0004332	Abnormal lymphocyte morphology	6573	SLC19A1	OMIM:620603
HP:0004332	Abnormal lymphocyte morphology	92579	G6PC3	OMIM:612541
HP:0004332	Abnormal lymphocyte morphology	340061	STING1	OMIM:615934
HP:0004332	Abnormal lymphocyte morphology	2624	GATA2	OMIM:614172
HP:0004332	Abnormal lymphocyte morphology	7852	CXCR4	ORPHA:51636
HP:0004332	Abnormal lymphocyte morphology	4478	MSN	OMIM:300988
HP:0004332	Abnormal lymphocyte morphology	79415	CYBC1	OMIM:618935
HP:0004332	Abnormal lymphocyte morphology	29128	UHRF1	ORPHA:2268
HP:0004332	Abnormal lymphocyte morphology	1789	DNMT3B	ORPHA:2268
HP:0004332	Abnormal lymphocyte morphology	9841	ZBTB24	ORPHA:2268
HP:0004332	Abnormal lymphocyte morphology	4790	NFKB1	ORPHA:1572
HP:0004332	Abnormal lymphocyte morphology	8742	TNFSF12	ORPHA:1572
HP:0004332	Abnormal lymphocyte morphology	359948	IRF2BP2	ORPHA:1572
HP:0004332	Abnormal lymphocyte morphology	200734	SPRED2	OMIM:619745
HP:0004332	Abnormal lymphocyte morphology	6773	STAT2	OMIM:616636
HP:0004332	Abnormal lymphocyte morphology	8883	NAE1	OMIM:620210
HP:0004332	Abnormal lymphocyte morphology	80185	TTI2	ORPHA:391307
HP:0004332	Abnormal lymphocyte morphology	10043	TOM1	OMIM:619510
HP:0004332	Abnormal lymphocyte morphology	3572	IL6ST	OMIM:619752
HP:0004332	Abnormal lymphocyte morphology	54809	SAMD9	OMIM:617053
HP:0004332	Abnormal lymphocyte morphology	8879	SGPL1	OMIM:617575
HP:0004332	Abnormal lymphocyte morphology	9508	ADAMTS3	ORPHA:2136
HP:0004332	Abnormal lymphocyte morphology	147372	CCBE1	ORPHA:2136
HP:0004332	Abnormal lymphocyte morphology	79633	FAT4	ORPHA:2136
HP:0004332	Abnormal lymphocyte morphology	3574	IL7	OMIM:618309
HP:0004332	Abnormal lymphocyte morphology	7456	WIPF1	ORPHA:906
HP:0004332	Abnormal lymphocyte morphology	6789	STK4	OMIM:614868
HP:0004332	Abnormal lymphocyte morphology	7036	TFR2	OMIM:604250
HP:0004332	Abnormal lymphocyte morphology	51284	TLR7	OMIM:301080
HP:0004332	Abnormal lymphocyte morphology	130340	AP1S3	ORPHA:247353
HP:0004332	Abnormal lymphocyte morphology	26525	IL36RN	ORPHA:247353
HP:0004332	Abnormal lymphocyte morphology	6117	RPA1	OMIM:619767
HP:0004332	Abnormal lymphocyte morphology	5294	PIK3CG	OMIM:619802
HP:0004332	Abnormal lymphocyte morphology	6948	TCN2	ORPHA:859
HP:0004332	Abnormal lymphocyte morphology	57724	EPG5	OMIM:242840
HP:0004332	Abnormal lymphocyte morphology	64135	IFIH1	OMIM:619773
HP:0004332	Abnormal lymphocyte morphology	5692	PSMB4	OMIM:617591
HP:0004332	Abnormal lymphocyte morphology	7518	XRCC4	OMIM:616541
HP:0004332	Abnormal lymphocyte morphology	204	AK2	OMIM:267500
HP:0004332	Abnormal lymphocyte morphology	4194	MDM4	OMIM:618849
HP:0004332	Abnormal lymphocyte morphology	5557	PRIM1	OMIM:620005
HP:0004332	Abnormal lymphocyte morphology	92345	NAF1	OMIM:620365
HP:0004332	Abnormal lymphocyte morphology	10312	TCIRG1	ORPHA:486
HP:0004332	Abnormal lymphocyte morphology	6728	SRP19	ORPHA:486
HP:0004332	Abnormal lymphocyte morphology	2672	GFI1	ORPHA:486
HP:0004332	Abnormal lymphocyte morphology	81570	CLPB	ORPHA:486
HP:0004332	Abnormal lymphocyte morphology	29071	C1GALT1C1	OMIM:301110
HP:0004332	Abnormal lymphocyte morphology	404672	GTF2H5	OMIM:616395
HP:0004332	Abnormal lymphocyte morphology	9652	SKIC3	ORPHA:84064
HP:0004332	Abnormal lymphocyte morphology	6499	SKIC2	ORPHA:84064
HP:0004332	Abnormal lymphocyte morphology	5908	RAP1B	OMIM:620654
HP:0004332	Abnormal lymphocyte morphology	2582	GALE	OMIM:620776
HP:0004332	Abnormal lymphocyte morphology	5297	PI4KA	OMIM:619708
HP:0004332	Abnormal lymphocyte morphology	1130	LYST	ORPHA:167
HP:0004332	Abnormal lymphocyte morphology	26503	SLC17A5	OMIM:604369
HP:0004332	Abnormal lymphocyte morphology	26503	SLC17A5	OMIM:269920
HP:0004332	Abnormal lymphocyte morphology	57104	PNPLA2	ORPHA:565612
HP:0004332	Abnormal lymphocyte morphology	4125	MAN2B1	OMIM:248500
HP:0004332	Abnormal lymphocyte morphology	5538	PPT1	OMIM:256730
HP:0004332	Abnormal lymphocyte morphology	2517	FUCA1	OMIM:230000
HP:0004332	Abnormal lymphocyte morphology	1203	CLN5	OMIM:256731
HP:0004332	Abnormal lymphocyte morphology	1201	CLN3	OMIM:204200
HP:0004332	Abnormal lymphocyte morphology	175	AGA	OMIM:208400
HP:0004332	Abnormal lymphocyte morphology	2720	GLB1	OMIM:230500
HP:0004332	Abnormal lymphocyte morphology	4758	NEU1	OMIM:256550
HP:0004332	Abnormal lymphocyte morphology	5295	PIK3R1	OMIM:615214
HP:0004332	Abnormal lymphocyte morphology	4860	PNP	ORPHA:760
HP:0004332	Abnormal lymphocyte morphology	973	CD79A	OMIM:613501
HP:0004332	Abnormal lymphocyte morphology	3543	IGLL1	OMIM:613500
HP:0004332	Abnormal lymphocyte morphology	29760	BLNK	OMIM:613502
HP:0004332	Abnormal lymphocyte morphology	50485	SMARCAL1	OMIM:242900
HP:0004332	Abnormal lymphocyte morphology	920	CD4	OMIM:613949
HP:0004332	Abnormal lymphocyte morphology	974	CD79B	OMIM:612692
HP:0004332	Abnormal lymphocyte morphology	3070	HELLS	OMIM:616911
HP:0004332	Abnormal lymphocyte morphology	83879	CDCA7	OMIM:616910
HP:0004332	Abnormal lymphocyte morphology	917	CD3G	OMIM:615607
HP:0004332	Abnormal lymphocyte morphology	6909	TBX2	OMIM:618223
HP:0004332	Abnormal lymphocyte morphology	915	CD3D	OMIM:615617
HP:0004332	Abnormal lymphocyte morphology	7454	WAS	OMIM:301000
HP:0004332	Abnormal lymphocyte morphology	7535	ZAP70	OMIM:269840
HP:0004332	Abnormal lymphocyte morphology	7535	ZAP70	OMIM:617006
HP:0004332	Abnormal lymphocyte morphology	4247	MGAT2	ORPHA:79329
HP:0004332	Abnormal lymphocyte morphology	6772	STAT1	OMIM:614162
HP:0004332	Abnormal lymphocyte morphology	3718	JAK3	OMIM:600802
HP:0004332	Abnormal lymphocyte morphology	3718	JAK3	ORPHA:35078
HP:0004332	Abnormal lymphocyte morphology	57217	TTC7A	OMIM:243150
HP:0004332	Abnormal lymphocyte morphology	55388	MCM10	OMIM:619313
HP:0004332	Abnormal lymphocyte morphology	4615	MYD88	OMIM:153600
HP:0004332	Abnormal lymphocyte morphology	5971	RELB	OMIM:617585
HP:0004332	Abnormal lymphocyte morphology	5994	RFXAP	OMIM:620817
HP:0004332	Abnormal lymphocyte morphology	5788	PTPRC	OMIM:619924
HP:0004332	Abnormal lymphocyte morphology	64919	BCL11B	OMIM:617237
HP:0004332	Abnormal lymphocyte morphology	200942	KLHDC8B	OMIM:236000
HP:0004332	Abnormal lymphocyte morphology	23495	TNFRSF13B	OMIM:609529
HP:0004332	Abnormal lymphocyte morphology	1493	CTLA4	ORPHA:3162
HP:0004332	Abnormal lymphocyte morphology	1493	CTLA4	ORPHA:2584
HP:0004332	Abnormal lymphocyte morphology	940	CD28	ORPHA:3162
HP:0004332	Abnormal lymphocyte morphology	940	CD28	ORPHA:2584
HP:0004332	Abnormal lymphocyte morphology	7133	TNFRSF1B	ORPHA:3162
HP:0004332	Abnormal lymphocyte morphology	7133	TNFRSF1B	ORPHA:2584
HP:0004332	Abnormal lymphocyte morphology	23765	IL17RA	OMIM:613953
HP:0004332	Abnormal lymphocyte morphology	4791	NFKB2	ORPHA:293978
HP:0004332	Abnormal lymphocyte morphology	6023	RMRP	ORPHA:39041
HP:0004332	Abnormal lymphocyte morphology	55636	CHD7	ORPHA:39041
HP:0004332	Abnormal lymphocyte morphology	3981	LIG4	ORPHA:39041
HP:0004332	Abnormal lymphocyte morphology	5896	RAG1	ORPHA:39041
HP:0004332	Abnormal lymphocyte morphology	5897	RAG2	ORPHA:39041
HP:0004332	Abnormal lymphocyte morphology	64421	DCLRE1C	ORPHA:39041
HP:0004332	Abnormal lymphocyte morphology	100	ADA	ORPHA:39041
HP:0004332	Abnormal lymphocyte morphology	3575	IL7R	ORPHA:39041
HP:0004332	Abnormal lymphocyte morphology	3561	IL2RG	ORPHA:39041
HP:0004332	Abnormal lymphocyte morphology	8456	FOXN1	OMIM:601705
HP:0004332	Abnormal lymphocyte morphology	8456	FOXN1	ORPHA:83471
HP:0004332	Abnormal lymphocyte morphology	8456	FOXN1	OMIM:618806
HP:0004332	Abnormal lymphocyte morphology	8456	FOXN1	ORPHA:169095
HP:0004332	Abnormal lymphocyte morphology	5993	RFX5	OMIM:620816
HP:0004332	Abnormal lymphocyte morphology	5993	RFX5	ORPHA:572
HP:0004332	Abnormal lymphocyte morphology	4683	NBN	OMIM:251260
HP:0004332	Abnormal lymphocyte morphology	3659	IRF1	OMIM:620668
HP:0004332	Abnormal lymphocyte morphology	5293	PIK3CD	OMIM:615513
HP:0004332	Abnormal lymphocyte morphology	8737	RIPK1	OMIM:618108
HP:0004332	Abnormal lymphocyte morphology	55072	RNF31	OMIM:620632
HP:0004332	Abnormal lymphocyte morphology	4261	CIITA	ORPHA:572
HP:0004332	Abnormal lymphocyte morphology	8625	RFXANK	ORPHA:572
HP:0004332	Abnormal lymphocyte morphology	9020	MAP3K14	OMIM:620449
HP:0004332	Abnormal lymphocyte morphology	6850	SYK	OMIM:619381
HP:0004332	Abnormal lymphocyte morphology	5699	PSMB10	OMIM:620807
HP:0004332	Abnormal lymphocyte morphology	1794	DOCK2	OMIM:616433
HP:0004332	Abnormal lymphocyte morphology	3559	IL2RA	OMIM:606367
HP:0004332	Abnormal lymphocyte morphology	81704	DOCK8	ORPHA:217390
HP:0004332	Abnormal lymphocyte morphology	5580	PRKCD	OMIM:615559
HP:0004332	Abnormal lymphocyte morphology	3071	NCKAP1L	OMIM:618982
HP:0004332	Abnormal lymphocyte morphology	84433	CARD11	OMIM:616452
HP:0004332	Abnormal lymphocyte morphology	84061	MAGT1	OMIM:300853
HP:0004332	Abnormal lymphocyte morphology	3702	ITK	OMIM:613011
HP:0004332	Abnormal lymphocyte morphology	29927	SEC61A1	OMIM:617056
HP:0004332	Abnormal lymphocyte morphology	3932	LCK	OMIM:615758
HP:0004332	Abnormal lymphocyte morphology	4609	MYC	ORPHA:543
HP:0004332	Abnormal lymphocyte morphology	56160	NSMCE3	OMIM:617241
HP:0004332	Abnormal lymphocyte morphology	3953	LEPR	ORPHA:179494
HP:0004332	Abnormal lymphocyte morphology	3952	LEP	ORPHA:66628
HP:0004332	Abnormal lymphocyte morphology	925	CD8A	OMIM:608957
HP:0004332	Abnormal lymphocyte morphology	64170	CARD9	OMIM:212050
HP:0004332	Abnormal lymphocyte morphology	27040	LAT	OMIM:617514
HP:0004332	Abnormal lymphocyte morphology	472	ATM	OMIM:208900
HP:0004332	Abnormal lymphocyte morphology	51095	TRNT1	OMIM:616084
HP:0004332	Abnormal lymphocyte morphology	22806	IKZF3	OMIM:619437
HP:0004332	Abnormal lymphocyte morphology	987	LRBA	OMIM:614700
HP:0004332	Abnormal lymphocyte morphology	54440	SASH3	OMIM:301082
HP:0004332	Abnormal lymphocyte morphology	3507	IGHM	OMIM:601495
HP:0004332	Abnormal lymphocyte morphology	9948	WDR1	OMIM:150550
HP:0004332	Abnormal lymphocyte morphology	5424	POLD1	OMIM:620836
HP:0004332	Abnormal lymphocyte morphology	23250	ATP11A	OMIM:619851
HP:0004332	Abnormal lymphocyte morphology	51371	POMP	OMIM:618048
HP:0004332	Abnormal lymphocyte morphology	6929	TCF3	OMIM:616941
HP:0004332	Abnormal lymphocyte morphology	6929	TCF3	OMIM:619824
HP:0004332	Abnormal lymphocyte morphology	10625	IVNS1ABP	OMIM:618969
HP:0004332	Abnormal lymphocyte morphology	79087	ALG12	ORPHA:79324
HP:0004332	Abnormal lymphocyte morphology	51311	TLR8	OMIM:301078
HP:0004332	Abnormal lymphocyte morphology	567	B2M	OMIM:241600
HP:0004332	Abnormal lymphocyte morphology	96459	FNIP1	OMIM:619705
HP:0004332	Abnormal lymphocyte morphology	10320	IKZF1	OMIM:616873
HP:0004332	Abnormal lymphocyte morphology	9138	ARHGEF1	OMIM:618459
HP:0004332	Abnormal lymphocyte morphology	64858	DCLRE1B	OMIM:620133
HP:0004332	Abnormal lymphocyte morphology	115650	TNFRSF13C	OMIM:240500
HP:0004332	Abnormal lymphocyte morphology	115650	TNFRSF13C	OMIM:613494
HP:0004332	Abnormal lymphocyte morphology	29851	ICOS	OMIM:240500
HP:0004332	Abnormal lymphocyte morphology	29851	ICOS	OMIM:607594
HP:0004332	Abnormal lymphocyte morphology	930	CD19	OMIM:240500
HP:0004332	Abnormal lymphocyte morphology	930	CD19	OMIM:613493
HP:0004332	Abnormal lymphocyte morphology	1380	CR2	OMIM:240500
HP:0004332	Abnormal lymphocyte morphology	931	MS4A1	OMIM:613495
HP:0004332	Abnormal lymphocyte morphology	975	CD81	OMIM:613496
HP:0004332	Abnormal lymphocyte morphology	59067	IL21	OMIM:615767
HP:0004332	Abnormal lymphocyte morphology	695	BTK	OMIM:307200
HP:0004332	Abnormal lymphocyte morphology	51135	IRAK4	OMIM:607676
HP:0004332	Abnormal lymphocyte morphology	868	CBLB	OMIM:620430
HP:0004332	Abnormal lymphocyte morphology	4068	SH2D1A	OMIM:308240
HP:0004332	Abnormal lymphocyte morphology	331	XIAP	OMIM:308240
HP:0004332	Abnormal lymphocyte morphology	5591	PRKDC	OMIM:615966
HP:0004332	Abnormal lymphocyte morphology	90417	KNSTRN	ORPHA:221139
HP:0004332	Abnormal lymphocyte morphology	3604	TNFRSF9	OMIM:620282
HP:0004332	Abnormal lymphocyte morphology	6688	SPI1	OMIM:619707
HP:0004332	Abnormal lymphocyte morphology	7922	SLC39A7	OMIM:619693
HP:0004332	Abnormal lymphocyte morphology	60468	BACH2	OMIM:618394
HP:0004332	Abnormal lymphocyte morphology	8085	KMT2D	OMIM:147920
HP:0004332	Abnormal lymphocyte morphology	7403	KDM6A	OMIM:147920
HP:0004332	Abnormal lymphocyte morphology	54790	TET2	OMIM:619126
HP:0004332	Abnormal lymphocyte morphology	8651	SOCS1	OMIM:619375
HP:0004332	Abnormal lymphocyte morphology	10525	HYOU1	OMIM:233600
HP:0004332	Abnormal lymphocyte morphology	5336	PLCG2	OMIM:614878
HP:0004332	Abnormal lymphocyte morphology	3570	IL6R	OMIM:618944
HP:0004332	Abnormal lymphocyte morphology	3115	HLA-DPB1	ORPHA:133
HP:0004332	Abnormal lymphocyte morphology	641	BLM	ORPHA:125
HP:0004332	Abnormal lymphocyte morphology	10125	RASGRP1	OMIM:618534
HP:0004332	Abnormal lymphocyte morphology	399	RHOH	OMIM:618307
HP:0004332	Abnormal lymphocyte morphology	79991	STN1	OMIM:617341
HP:0004332	Abnormal lymphocyte morphology	3937	LCP2	OMIM:619374
HP:0004332	Abnormal lymphocyte morphology	10159	ATP6AP2	OMIM:301045
HP:0004332	Abnormal lymphocyte morphology	1729	DIAPH1	ORPHA:477814
HP:0004332	Abnormal lymphocyte morphology	90268	OTULIN	OMIM:617099
HP:0004332	Abnormal lymphocyte morphology	841	CASP8	OMIM:607271
HP:0004332	Abnormal lymphocyte morphology	3560	IL2RB	OMIM:618495
HP:0004332	Abnormal lymphocyte morphology	10892	MALT1	OMIM:615468
HP:0004332	Abnormal lymphocyte morphology	6786	STIM1	OMIM:612783
HP:0004332	Abnormal lymphocyte morphology	916	CD3E	OMIM:615615
HP:0004332	Abnormal lymphocyte morphology	3431	SP110	ORPHA:79124
HP:0004332	Abnormal lymphocyte morphology	84876	ORAI1	OMIM:612782
HP:0004332	Abnormal lymphocyte morphology	970	CD70	OMIM:618261
HP:0004332	Abnormal lymphocyte morphology	3551	IKBKB	OMIM:615592
HP:0004332	Abnormal lymphocyte morphology	4173	MCM4	OMIM:609981
HP:0004332	Abnormal lymphocyte morphology	8546	AP3B1	OMIM:608233
HP:0004332	Abnormal lymphocyte morphology	58484	NLRC4	OMIM:616050
HP:0004332	Abnormal lymphocyte morphology	2214	FCGR3A	OMIM:615707
HP:0004332	Abnormal lymphocyte morphology	2000	ELF4	OMIM:301074
HP:0004332	Abnormal lymphocyte morphology	5966	REL	OMIM:619652
HP:0004332	Abnormal lymphocyte morphology	4893	NRAS	OMIM:614470
HP:0004332	Abnormal lymphocyte morphology	3845	KRAS	OMIM:614470
HP:0004332	Abnormal lymphocyte morphology	79621	RNASEH2B	OMIM:610181
HP:0004332	Abnormal lymphocyte morphology	54914	FOCAD	OMIM:619991
HP:0004332	Abnormal lymphocyte morphology	84823	LMNB2	ORPHA:79087
HP:0004332	Abnormal lymphocyte morphology	10095	ARPC1B	OMIM:617718
HP:0004332	Abnormal lymphocyte morphology	9451	EIF2AK3	ORPHA:1667
HP:0004332	Abnormal lymphocyte morphology	8517	IKBKG	ORPHA:98813
HP:0004332	Abnormal lymphocyte morphology	4792	NFKBIA	ORPHA:98813
HP:0004332	Abnormal lymphocyte morphology	4067	LYN	OMIM:620376
HP:0004332	Abnormal lymphocyte morphology	56244	BTNL2	ORPHA:797
HP:0004332	Abnormal lymphocyte morphology	3123	HLA-DRB1	ORPHA:797
HP:0004332	Abnormal lymphocyte morphology	8915	BCL10	OMIM:616098
HP:0004332	Abnormal lymphocyte morphology	3978	LIG1	OMIM:619774
HP:0004332	Abnormal lymphocyte morphology	50943	FOXP3	OMIM:304790
HP:0100827	Lymphocytosis	5788	PTPRC	OMIM:619924
HP:0100827	Lymphocytosis	9020	MAP3K14	OMIM:620449
HP:0100827	Lymphocytosis	5580	PRKCD	OMIM:615559
HP:0100827	Lymphocytosis	3071	NCKAP1L	OMIM:618982
HP:0100827	Lymphocytosis	8517	IKBKG	ORPHA:98813
HP:0100827	Lymphocytosis	4792	NFKBIA	ORPHA:98813
HP:0100827	Lymphocytosis	4067	LYN	OMIM:620376
HP:0100827	Lymphocytosis	84433	CARD11	OMIM:616452
HP:0100827	Lymphocytosis	3575	IL7R	ORPHA:169154
HP:0100827	Lymphocytosis	2000	ELF4	OMIM:301074
HP:0100827	Lymphocytosis	355	FAS	ORPHA:3261
HP:0100827	Lymphocytosis	356	FASLG	ORPHA:3261
HP:0100827	Lymphocytosis	843	CASP10	ORPHA:3261
HP:0100827	Lymphocytosis	5966	REL	OMIM:619652
HP:0100827	Lymphocytosis	4893	NRAS	OMIM:614470
HP:0100827	Lymphocytosis	3845	KRAS	OMIM:614470
HP:0100827	Lymphocytosis	79621	RNASEH2B	OMIM:610181
HP:0100827	Lymphocytosis	54914	FOCAD	OMIM:619991
HP:0100827	Lymphocytosis	84823	LMNB2	ORPHA:79087
HP:0100827	Lymphocytosis	7535	ZAP70	ORPHA:911
HP:0100827	Lymphocytosis	10095	ARPC1B	OMIM:617718
HP:0100827	Lymphocytosis	4068	SH2D1A	OMIM:308240
HP:0100827	Lymphocytosis	331	XIAP	OMIM:308240
HP:0100827	Lymphocytosis	9451	EIF2AK3	ORPHA:1667
HP:0100827	Lymphocytosis	56244	BTNL2	ORPHA:797
HP:0100827	Lymphocytosis	3123	HLA-DRB1	ORPHA:797
HP:0012142	Pancreatic squamous cell carcinoma	23476	BRD4	ORPHA:443167
HP:0012142	Pancreatic squamous cell carcinoma	256646	NUTM1	ORPHA:443167
HP:0012142	Pancreatic squamous cell carcinoma	1029	CDKN2A	OMIM:606719
HP:0012143	Abnormal megakaryocyte morphology	10019	SH2B3	ORPHA:3318
HP:0012143	Abnormal megakaryocyte morphology	7157	TP53	ORPHA:3318
HP:0012143	Abnormal megakaryocyte morphology	10020	GNE	OMIM:620757
HP:0012143	Abnormal megakaryocyte morphology	9056	SLC7A7	ORPHA:470
HP:0012143	Abnormal megakaryocyte morphology	148867	SLC30A7	OMIM:620501
HP:0012143	Abnormal megakaryocyte morphology	9630	GNA14	ORPHA:1063
HP:0012143	Abnormal megakaryocyte morphology	57169	ZNFX1	OMIM:619644
HP:0012143	Abnormal megakaryocyte morphology	3207	HOXA11	OMIM:605432
HP:0012143	Abnormal megakaryocyte morphology	56992	KIF15	OMIM:619981
HP:0012143	Abnormal megakaryocyte morphology	2533	FYB1	OMIM:273900
HP:0012143	Abnormal megakaryocyte morphology	10559	SLC35A1	ORPHA:238459
HP:0012143	Abnormal megakaryocyte morphology	2811	GP1BA	ORPHA:274
HP:0012143	Abnormal megakaryocyte morphology	2812	GP1BB	ORPHA:274
HP:0012143	Abnormal megakaryocyte morphology	2815	GP9	ORPHA:274
HP:0012143	Abnormal megakaryocyte morphology	811	CALR	ORPHA:824
HP:0012143	Abnormal megakaryocyte morphology	4352	MPL	ORPHA:824
HP:0012143	Abnormal megakaryocyte morphology	3717	JAK2	ORPHA:824
HP:0012143	Abnormal megakaryocyte morphology	54790	TET2	ORPHA:824
HP:0012143	Abnormal megakaryocyte morphology	54790	TET2	ORPHA:75564
HP:0012143	Abnormal megakaryocyte morphology	2623	GATA1	ORPHA:67044
HP:0012143	Abnormal megakaryocyte morphology	23451	SF3B1	ORPHA:75564
HP:0012143	Abnormal megakaryocyte morphology	6208	RPS14	ORPHA:86841
HP:0012143	Abnormal megakaryocyte morphology	2582	GALE	OMIM:620776
HP:0012143	Abnormal megakaryocyte morphology	2624	GATA2	OMIM:614172
HP:0012143	Abnormal megakaryocyte morphology	54809	SAMD9	OMIM:619041
HP:0012143	Abnormal megakaryocyte morphology	114803	MYSM1	ORPHA:508542
HP:0012143	Abnormal megakaryocyte morphology	4627	MYH9	OMIM:155100
HP:0012143	Abnormal megakaryocyte morphology	7317	UBA1	OMIM:301054
HP:0012143	Abnormal megakaryocyte morphology	55159	RFWD3	OMIM:617784
HP:0012143	Abnormal megakaryocyte morphology	22852	ANKRD26	OMIM:188000
HP:0012144	Abnormal monocyte morphology	10312	TCIRG1	ORPHA:486
HP:0012144	Abnormal monocyte morphology	6728	SRP19	ORPHA:486
HP:0012144	Abnormal monocyte morphology	1991	ELANE	ORPHA:486
HP:0012144	Abnormal monocyte morphology	1991	ELANE	OMIM:202700
HP:0012144	Abnormal monocyte morphology	2672	GFI1	ORPHA:486
HP:0012144	Abnormal monocyte morphology	2672	GFI1	OMIM:613107
HP:0012144	Abnormal monocyte morphology	81570	CLPB	ORPHA:486
HP:0012144	Abnormal monocyte morphology	5293	PIK3CD	OMIM:619281
HP:0012144	Abnormal monocyte morphology	3551	IKBKB	OMIM:615592
HP:0012144	Abnormal monocyte morphology	4893	NRAS	OMIM:614470
HP:0012144	Abnormal monocyte morphology	3845	KRAS	OMIM:614470
HP:0012144	Abnormal monocyte morphology	57169	ZNFX1	OMIM:619644
HP:0012144	Abnormal monocyte morphology	51428	DDX41	OMIM:616871
HP:0012144	Abnormal monocyte morphology	92579	G6PC3	OMIM:612541
HP:0012144	Abnormal monocyte morphology	6730	SRP68	OMIM:620534
HP:0012144	Abnormal monocyte morphology	29927	SEC61A1	OMIM:620674
HP:0012144	Abnormal monocyte morphology	10092	ARPC5	OMIM:620565
HP:0012144	Abnormal monocyte morphology	5880	RAC2	OMIM:618986
HP:0012144	Abnormal monocyte morphology	7454	WAS	OMIM:300299
HP:0012144	Abnormal monocyte morphology	7454	WAS	ORPHA:86788
HP:0012144	Abnormal monocyte morphology	84433	CARD11	OMIM:615206
HP:0012144	Abnormal monocyte morphology	5294	PIK3CG	OMIM:619802
HP:0012144	Abnormal monocyte morphology	2624	GATA2	OMIM:614172
HP:0012144	Abnormal monocyte morphology	3394	IRF8	OMIM:226990
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	171023	ASXL1	ORPHA:98850
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	54790	TET2	ORPHA:98850
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	54790	TET2	ORPHA:824
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	54790	TET2	ORPHA:75564
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	867	CBL	ORPHA:98850
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	861	RUNX1	ORPHA:98850
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	6427	SRSF2	ORPHA:98850
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	7293	TNFRSF4	OMIM:615593
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	331	XIAP	OMIM:300635
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	331	XIAP	OMIM:308240
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	331	XIAP	ORPHA:538934
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	10312	TCIRG1	OMIM:259700
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	5880	RAC2	OMIM:618986
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	6948	TCN2	OMIM:275350
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	6948	TCN2	ORPHA:859
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	987	LRBA	OMIM:614700
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	811	CALR	ORPHA:824
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	4352	MPL	ORPHA:824
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	4352	MPL	OMIM:604498
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	3717	JAK2	ORPHA:824
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	7518	XRCC4	ORPHA:99812
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	3981	LIG4	ORPHA:99812
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	3981	LIG4	OMIM:606593
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	1736	DKC1	OMIM:305000
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	84320	ACBD6	OMIM:620785
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	113235	SLC46A1	ORPHA:90045
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	23451	SF3B1	ORPHA:75564
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	4125	MAN2B1	ORPHA:309282
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	4125	MAN2B1	ORPHA:309288
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	54809	SAMD9	OMIM:619041
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	58484	NLRC4	OMIM:616050
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	4522	MTHFD1	OMIM:617780
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	939	CD27	OMIM:615122
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	6729	SRP54	OMIM:260400
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	51119	SBDS	OMIM:260400
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	51119	SBDS	ORPHA:811
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	51119	SBDS	ORPHA:88
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	134218	DNAJC21	OMIM:260400
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	134218	DNAJC21	ORPHA:811
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	134218	DNAJC21	OMIM:617052
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	2175	FANCA	OMIM:227650
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	6731	SRP72	OMIM:614675
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	2624	GATA2	OMIM:614038
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	4552	MTRR	ORPHA:2169
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	55788	LMBRD1	OMIM:277380
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	55651	NHP2	OMIM:613987
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	55651	NHP2	OMIM:224230
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	5698	PSMB9	OMIM:620796
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	55135	WRAP53	OMIM:613988
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	7015	TERT	OMIM:613989
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	7015	TERT	ORPHA:88
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	7015	TERT	OMIM:614742
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	4068	SH2D1A	OMIM:308240
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	79631	EFL1	ORPHA:811
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	3604	TNFRSF9	OMIM:620282
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	8029	CUBN	ORPHA:35858
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	81693	AMN	ORPHA:35858
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	219285	SAMD9L	OMIM:159550
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	219285	SAMD9L	ORPHA:2585
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	5994	RFXAP	ORPHA:572
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	4261	CIITA	ORPHA:572
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	5993	RFX5	ORPHA:572
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	8625	RFXANK	ORPHA:572
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	3458	IFNG	ORPHA:88
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	3458	IFNG	OMIM:618963
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	7012	TERC	ORPHA:88
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	7012	TERC	OMIM:614743
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	27235	COQ2	OMIM:607426
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	26277	TINF2	OMIM:613990
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	1777	DNASE2	OMIM:619858
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	3431	SP110	ORPHA:79124
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	1854	DUT	OMIM:620044
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	5277	PIGA	ORPHA:447
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	5095	PCCA	OMIM:606054
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	5096	PCCB	OMIM:606054
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	2778	GNAS	ORPHA:562
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	3712	IVD	OMIM:243500
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	2178	FANCE	OMIM:600901
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	57511	COG6	OMIM:614576
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	545	ATR	OMIM:210600
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	10320	IKZF1	OMIM:616873
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	2629	GBA1	OMIM:231005
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	2629	GBA1	OMIM:231000
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	2629	GBA1	ORPHA:85212
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	2629	GBA1	OMIM:230800
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	2629	GBA1	ORPHA:2072
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	2629	GBA1	ORPHA:77261
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	2629	GBA1	ORPHA:77259
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	91039	DPP9	OMIM:620331
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	80216	ALPK1	OMIM:614979
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	326625	MMAB	OMIM:251110
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	5873	RAB27A	ORPHA:79477
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	760	CA2	ORPHA:2785
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	54	ACP5	ORPHA:1855
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	9051	PSTPIP1	OMIM:604416
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	3702	ITK	OMIM:613011
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	55505	NOP10	OMIM:224230
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	10056	FARSB	OMIM:613658
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	166785	MMAA	OMIM:251100
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	84868	HAVCR2	OMIM:618398
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	79991	STN1	OMIM:617341
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	4893	NRAS	OMIM:614470
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	3845	KRAS	OMIM:614470
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	374879	ZNF699	OMIM:619488
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	60468	BACH2	OMIM:618394
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	83737	ITCH	OMIM:613385
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	83737	ITCH	ORPHA:228426
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	5788	PTPRC	OMIM:619924
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	51816	ADA2	OMIM:615688
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	64135	IFIH1	OMIM:615846
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	6117	RPA1	OMIM:619767
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	50485	SMARCAL1	OMIM:242900
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	3123	HLA-DRB1	OMIM:181000
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	2177	FANCD2	OMIM:227646
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	55739	NAXD	OMIM:618321
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	2176	FANCC	OMIM:227645
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	51081	MRPS7	OMIM:617872
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	84464	SLX4	OMIM:613951
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	1719	DHFR	OMIM:613839
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	7066	THPO	OMIM:620481
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	28962	OSTM1	OMIM:259720
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	6774	STAT3	ORPHA:520
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	5371	PML	ORPHA:520
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	5914	RARA	ORPHA:520
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	359948	IRF2BP2	ORPHA:520
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	81608	FIP1L1	ORPHA:520
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	4869	NPM1	ORPHA:520
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	5573	PRKAR1A	ORPHA:520
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	54880	BCOR	ORPHA:520
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	64859	NABP1	ORPHA:520
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	6777	STAT5B	ORPHA:520
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	4926	NUMA1	ORPHA:520
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	7704	ZBTB16	ORPHA:520
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	79718	TBL1XR1	ORPHA:520
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	65057	ACD	OMIM:616553
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	29089	UBE2T	OMIM:616435
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	10535	RNASEH2A	OMIM:610333
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	5908	RAP1B	OMIM:620654
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	6929	TCF3	OMIM:619824
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	2582	GALE	OMIM:620776
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	54938	SARS2	OMIM:613845
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	64858	DCLRE1B	OMIM:620133
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	6888	TALDO1	OMIM:606003
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	950	SCARB2	ORPHA:77259
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	8600	TNFSF11	OMIM:259710
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	2187	FANCB	OMIM:300514
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	9401	RECQL4	ORPHA:221016
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	6728	SRP19	ORPHA:486
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	1991	ELANE	ORPHA:486
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	2672	GFI1	ORPHA:486
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	79728	PALB2	OMIM:610832
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	3207	HOXA11	OMIM:605432
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	64682	ANAPC1	ORPHA:221008
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	6573	SLC19A1	OMIM:620603
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	27249	MMADHC	ORPHA:79283
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	128	ADH5	OMIM:619151
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	355	FAS	ORPHA:3261
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	356	FASLG	ORPHA:3261
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	843	CASP10	ORPHA:3261
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	51750	RTEL1	OMIM:615190
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	51750	RTEL1	ORPHA:3322
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	51750	RTEL1	ORPHA:1775
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	2072	ERCC4	OMIM:615272
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	5238	PGM3	ORPHA:443811
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	6154	RPL26	OMIM:614900
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	148867	SLC30A7	OMIM:620501
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	6916	TBXAS1	OMIM:231095
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	375748	ERCC6L2	OMIM:615715
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	81570	CLPB	ORPHA:445038
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	114803	MYSM1	ORPHA:508542
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	114803	MYSM1	OMIM:618116
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	55596	ZCCHC8	OMIM:618674
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	55215	FANCI	OMIM:609053
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	83990	BRIP1	OMIM:609054
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	65082	VPS33A	OMIM:617303
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	65082	VPS33A	ORPHA:505248
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	4683	NBN	OMIM:609135
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	2188	FANCF	OMIM:603467
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	675	BRCA2	OMIM:605724
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	3930	LBR	OMIM:215140
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	55120	FANCL	OMIM:614083
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	7040	TGFB1	OMIM:131300
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	6208	RPS14	ORPHA:86841
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	4194	MDM4	OMIM:618849
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	5073	PARN	ORPHA:3322
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	5073	PARN	OMIM:616353
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	5073	PARN	ORPHA:1775
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	51311	TLR8	OMIM:301078
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	51428	DDX41	OMIM:616871
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	5888	RAD51	OMIM:617244
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	10459	MAD2L2	OMIM:617243
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	57728	WDR19	OMIM:614378
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	80169	CTC1	OMIM:612199
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	80169	CTC1	ORPHA:1775
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	79650	USB1	ORPHA:1775
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	7298	TYMS	ORPHA:1775
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	2313	FLI1	ORPHA:2308
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	8036	SHOC2	OMIM:607721
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	80739	MPIG6B	OMIM:617441
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	10019	SH2B3	OMIM:254450
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	10019	SH2B3	ORPHA:3318
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	7157	TP53	ORPHA:3318
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	6714	SRC	OMIM:616937
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	8328	GFI1B	OMIM:187900
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	23218	NBEAL2	OMIM:139090
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	1130	LYST	ORPHA:167
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	5551	PRF1	ORPHA:540
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	8676	STX11	ORPHA:540
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	201294	UNC13D	ORPHA:540
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	6813	STXBP2	ORPHA:540
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	1186	CLCN7	ORPHA:53
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	2623	GATA1	ORPHA:67044
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	22	ABCB7	OMIM:301310
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	9056	SLC7A7	ORPHA:470
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	7852	CXCR4	ORPHA:51636
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	7852	CXCR4	OMIM:193670
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	3815	KIT	ORPHA:98849
HP:0012146	Abnormality of von Willebrand factor	7058	THBS2	OMIM:620865
HP:0012146	Abnormality of von Willebrand factor	2157	F8	ORPHA:169802
HP:0012146	Abnormality of von Willebrand factor	7450	VWF	OMIM:277480
HP:0012146	Abnormality of von Willebrand factor	5978	REST	ORPHA:654
HP:0012146	Abnormality of von Willebrand factor	129563	DIS3L2	ORPHA:654
HP:0012146	Abnormality of von Willebrand factor	675	BRCA2	ORPHA:654
HP:0012146	Abnormality of von Willebrand factor	9319	TRIP13	ORPHA:654
HP:0012146	Abnormality of von Willebrand factor	7490	WT1	ORPHA:654
HP:0012146	Abnormality of von Willebrand factor	10155	TRIM28	ORPHA:654
HP:0012146	Abnormality of von Willebrand factor	11281	POU6F2	ORPHA:654
HP:0012146	Abnormality of von Willebrand factor	2719	GPC3	ORPHA:654
HP:0012146	Abnormality of von Willebrand factor	283120	H19	ORPHA:654
HP:0012146	Abnormality of von Willebrand factor	23218	NBEAL2	OMIM:139090
HP:0012146	Abnormality of von Willebrand factor	2815	GP9	OMIM:231200
HP:0012146	Abnormality of von Willebrand factor	2815	GP9	ORPHA:274
HP:0012146	Abnormality of von Willebrand factor	2811	GP1BA	OMIM:231200
HP:0012146	Abnormality of von Willebrand factor	2811	GP1BA	OMIM:153670
HP:0012146	Abnormality of von Willebrand factor	2811	GP1BA	ORPHA:274
HP:0012146	Abnormality of von Willebrand factor	2812	GP1BB	OMIM:231200
HP:0012146	Abnormality of von Willebrand factor	2812	GP1BB	ORPHA:274
HP:0012146	Abnormality of von Willebrand factor	3690	ITGB3	OMIM:619271
HP:0012146	Abnormality of von Willebrand factor	3690	ITGB3	ORPHA:849
HP:0012146	Abnormality of von Willebrand factor	3690	ITGB3	OMIM:619267
HP:0012146	Abnormality of von Willebrand factor	3674	ITGA2B	OMIM:273800
HP:0012146	Abnormality of von Willebrand factor	3674	ITGA2B	ORPHA:849
HP:0012146	Abnormality of von Willebrand factor	51206	GP6	OMIM:614201
HP:0012146	Abnormality of von Willebrand factor	64376	IKZF5	OMIM:619130
HP:0012146	Abnormality of von Willebrand factor	2048	EPHB2	OMIM:618462
HP:0012146	Abnormality of von Willebrand factor	93986	FOXP2	ORPHA:251061
HP:0012146	Abnormality of von Willebrand factor	2542	SLC37A4	ORPHA:79259
HP:0012147	Reduced quantity of Von Willebrand factor	7450	VWF	OMIM:193400
HP:0012147	Reduced quantity of Von Willebrand factor	23218	NBEAL2	OMIM:139090
HP:0012148	Multiple lineage myelodysplasia	6208	RPS14	ORPHA:86841
HP:0012150	Single lineage myelodysplasia	2065	ERBB3	OMIM:133180
HP:0012150	Single lineage myelodysplasia	150274	HSCB	OMIM:619523
HP:0012150	Single lineage myelodysplasia	3313	HSPA9	OMIM:182170
HP:0012150	Single lineage myelodysplasia	23451	SF3B1	ORPHA:75564
HP:0012150	Single lineage myelodysplasia	54790	TET2	ORPHA:98826
HP:0012151	Hemothorax	2131	EXT1	ORPHA:321
HP:0012151	Hemothorax	2132	EXT2	ORPHA:321
HP:0012151	Hemothorax	1281	COL3A1	OMIM:130050
HP:0012151	Hemothorax	5345	SERPINF2	ORPHA:79
HP:0012151	Hemothorax	5345	SERPINF2	OMIM:262850
HP:0012151	Hemothorax	2022	ENG	OMIM:187300
HP:0012151	Hemothorax	440275	EIF2AK4	ORPHA:199241
HP:0012152	Foveoschisis	4942	OAT	OMIM:258870
HP:0012152	Foveoschisis	83552	MFRP	OMIM:611040
HP:0012153	Hypotriglyceridemia	22948	CCT5	OMIM:256840
HP:0012153	Hypotriglyceridemia	27329	ANGPTL3	OMIM:605019
HP:0012153	Hypotriglyceridemia	51128	SAR1B	OMIM:246700
HP:0012153	Hypotriglyceridemia	4547	MTTP	ORPHA:14
HP:0012153	Hypotriglyceridemia	345	APOC3	OMIM:614028
HP:0012153	Hypotriglyceridemia	55768	NGLY1	ORPHA:404454
HP:0012153	Hypotriglyceridemia	2590	GALNT2	OMIM:618885
HP:0012153	Hypotriglyceridemia	5130	PCYT1A	ORPHA:85167
HP:0012155	Decreased corneal sensation	4166	CHST6	ORPHA:98969
HP:0012155	Decreased corneal sensation	2263	FGFR2	ORPHA:2363
HP:0012155	Decreased corneal sensation	2261	FGFR3	ORPHA:2363
HP:0012155	Decreased corneal sensation	2255	FGF10	ORPHA:2363
HP:0012155	Decreased corneal sensation	7045	TGFBI	ORPHA:98964
HP:0012156	Hemophagocytosis	9056	SLC7A7	ORPHA:470
HP:0012156	Hemophagocytosis	9056	SLC7A7	OMIM:222700
HP:0012156	Hemophagocytosis	201294	UNC13D	OMIM:608898
HP:0012156	Hemophagocytosis	201294	UNC13D	ORPHA:540
HP:0012156	Hemophagocytosis	5873	RAB27A	OMIM:607624
HP:0012156	Hemophagocytosis	5873	RAB27A	ORPHA:79477
HP:0012156	Hemophagocytosis	84868	HAVCR2	ORPHA:86884
HP:0012156	Hemophagocytosis	84868	HAVCR2	OMIM:618398
HP:0012156	Hemophagocytosis	3702	ITK	OMIM:613011
HP:0012156	Hemophagocytosis	331	XIAP	OMIM:300635
HP:0012156	Hemophagocytosis	331	XIAP	OMIM:308240
HP:0012156	Hemophagocytosis	1777	DNASE2	OMIM:619858
HP:0012156	Hemophagocytosis	10019	SH2B3	OMIM:254450
HP:0012156	Hemophagocytosis	811	CALR	OMIM:254450
HP:0012156	Hemophagocytosis	3717	JAK2	OMIM:254450
HP:0012156	Hemophagocytosis	4352	MPL	OMIM:254450
HP:0012156	Hemophagocytosis	3458	IFNG	OMIM:618963
HP:0012156	Hemophagocytosis	51311	TLR8	OMIM:301078
HP:0012156	Hemophagocytosis	1130	LYST	ORPHA:167
HP:0012156	Hemophagocytosis	1130	LYST	OMIM:214500
HP:0012156	Hemophagocytosis	5551	PRF1	ORPHA:540
HP:0012156	Hemophagocytosis	5551	PRF1	OMIM:603553
HP:0012156	Hemophagocytosis	8676	STX11	ORPHA:540
HP:0012156	Hemophagocytosis	8676	STX11	OMIM:603552
HP:0012156	Hemophagocytosis	6813	STXBP2	ORPHA:540
HP:0012156	Hemophagocytosis	6813	STXBP2	OMIM:613101
HP:0012156	Hemophagocytosis	57169	ZNFX1	OMIM:619644
HP:0012156	Hemophagocytosis	939	CD27	OMIM:615122
HP:0012156	Hemophagocytosis	5294	PIK3CG	OMIM:619802
HP:0012156	Hemophagocytosis	4068	SH2D1A	OMIM:308240
HP:0012156	Hemophagocytosis	868	CBLB	OMIM:620430
HP:0012157	Subcortical cerebral atrophy	2639	GCDH	ORPHA:25
HP:0012157	Subcortical cerebral atrophy	4125	MAN2B1	ORPHA:309282
HP:0012157	Subcortical cerebral atrophy	4125	MAN2B1	ORPHA:309288
HP:0012157	Subcortical cerebral atrophy	64072	CDH23	ORPHA:231169
HP:0012157	Subcortical cerebral atrophy	10083	USH1C	ORPHA:231169
HP:0012157	Subcortical cerebral atrophy	124590	USH1G	ORPHA:231169
HP:0012157	Subcortical cerebral atrophy	83715	ESPN	ORPHA:231169
HP:0012157	Subcortical cerebral atrophy	10518	CIB2	ORPHA:231169
HP:0012157	Subcortical cerebral atrophy	4647	MYO7A	ORPHA:231169
HP:0012157	Subcortical cerebral atrophy	4647	MYO7A	ORPHA:231178
HP:0012157	Subcortical cerebral atrophy	65217	PCDH15	ORPHA:231169
HP:0012157	Subcortical cerebral atrophy	4644	MYO5A	ORPHA:33445
HP:0012157	Subcortical cerebral atrophy	7399	USH2A	ORPHA:231178
HP:0012157	Subcortical cerebral atrophy	79955	PDZD7	ORPHA:231178
HP:0012157	Subcortical cerebral atrophy	25861	WHRN	ORPHA:231178
HP:0012157	Subcortical cerebral atrophy	84059	ADGRV1	ORPHA:231178
HP:0012157	Subcortical cerebral atrophy	51360	MBTPS2	ORPHA:2273
HP:0012157	Subcortical cerebral atrophy	3975	LHX1	ORPHA:261265
HP:0012157	Subcortical cerebral atrophy	6928	HNF1B	ORPHA:261265
HP:0012157	Subcortical cerebral atrophy	2260	FGFR1	ORPHA:2396
HP:0012157	Subcortical cerebral atrophy	3845	KRAS	ORPHA:2396
HP:0012157	Subcortical cerebral atrophy	23729	SHPK	ORPHA:440713
HP:0012157	Subcortical cerebral atrophy	79813	EHMT1	ORPHA:96147
HP:0012157	Subcortical cerebral atrophy	10195	ALG3	ORPHA:79321
HP:0012157	Subcortical cerebral atrophy	91949	COG7	ORPHA:79333
HP:0012157	Subcortical cerebral atrophy	26123	TCTN3	ORPHA:2753
HP:0012157	Subcortical cerebral atrophy	23126	POGZ	ORPHA:468678
HP:0012157	Subcortical cerebral atrophy	71	ACTG1	ORPHA:2995
HP:0012157	Subcortical cerebral atrophy	60	ACTB	ORPHA:2995
HP:0012158	Carotid artery dissection	4087	SMAD2	OMIM:619656
HP:0012158	Carotid artery dissection	81031	SLC2A10	OMIM:208050
HP:0012158	Carotid artery dissection	55901	THSD1	OMIM:618734
HP:0012159	Internal carotid artery dissection	55901	THSD1	OMIM:618734
HP:0012163	Carotid artery dilatation	51473	DCDC2	ORPHA:84081
HP:0012163	Carotid artery dilatation	91147	TMEM67	ORPHA:84081
HP:0012163	Carotid artery dilatation	4087	SMAD2	OMIM:619656
HP:0012163	Carotid artery dilatation	4087	SMAD2	ORPHA:91387
HP:0012163	Carotid artery dilatation	7048	TGFBR2	OMIM:610168
HP:0012163	Carotid artery dilatation	7048	TGFBR2	ORPHA:91387
HP:0012163	Carotid artery dilatation	6772	STAT1	ORPHA:391487
HP:0012163	Carotid artery dilatation	4629	MYH11	ORPHA:229
HP:0012163	Carotid artery dilatation	4629	MYH11	ORPHA:91387
HP:0012163	Carotid artery dilatation	7046	TGFBR1	ORPHA:91387
HP:0012163	Carotid artery dilatation	4015	LOX	ORPHA:91387
HP:0012163	Carotid artery dilatation	7043	TGFB3	ORPHA:91387
HP:0012163	Carotid artery dilatation	4088	SMAD3	ORPHA:91387
HP:0012163	Carotid artery dilatation	7042	TGFB2	ORPHA:91387
HP:0012163	Carotid artery dilatation	4089	SMAD4	ORPHA:91387
HP:0012163	Carotid artery dilatation	2200	FBN1	ORPHA:91387
HP:0012163	Carotid artery dilatation	59	ACTA2	ORPHA:91387
HP:0012163	Carotid artery dilatation	5592	PRKG1	ORPHA:91387
HP:0012163	Carotid artery dilatation	2301	FOXE3	ORPHA:91387
HP:0012163	Carotid artery dilatation	4144	MAT2A	ORPHA:91387
HP:0012163	Carotid artery dilatation	23493	HEY2	ORPHA:91387
HP:0012163	Carotid artery dilatation	8076	MFAP5	ORPHA:91387
HP:0012163	Carotid artery dilatation	4638	MYLK	ORPHA:91387
HP:0012163	Carotid artery dilatation	79875	THSD4	ORPHA:91387
HP:0012163	Carotid artery dilatation	2006	ELN	ORPHA:91387
HP:0012163	Carotid artery dilatation	10526	IPO8	OMIM:619472
HP:0012164	Asterixis	10165	SLC25A13	ORPHA:247585
HP:0012164	Asterixis	5205	ATP8B1	ORPHA:69665
HP:0012164	Asterixis	8647	ABCB11	ORPHA:69665
HP:0012164	Asterixis	5244	ABCB4	ORPHA:69665
HP:0012164	Asterixis	9971	NR1H4	ORPHA:69665
HP:0012165	Oligodactyly	64840	PORCN	OMIM:305600
HP:0012165	Oligodactyly	10262	SF3B4	OMIM:154400
HP:0012165	Oligodactyly	54567	DLL4	OMIM:616589
HP:0012165	Oligodactyly	64093	SMOC1	OMIM:206920
HP:0012165	Oligodactyly	64093	SMOC1	ORPHA:1106
HP:0012165	Oligodactyly	90459	ERI1	OMIM:620662
HP:0012165	Oligodactyly	23476	BRD4	ORPHA:199
HP:0012165	Oligodactyly	9126	SMC3	ORPHA:199
HP:0012165	Oligodactyly	8243	SMC1A	ORPHA:199
HP:0012165	Oligodactyly	6878	TAF6	ORPHA:199
HP:0012165	Oligodactyly	25836	NIPBL	ORPHA:199
HP:0012165	Oligodactyly	25836	NIPBL	OMIM:122470
HP:0012165	Oligodactyly	55869	HDAC8	ORPHA:199
HP:0012165	Oligodactyly	5885	RAD21	ORPHA:199
HP:0012165	Oligodactyly	2737	GLI3	ORPHA:672
HP:0012165	Oligodactyly	2737	GLI3	OMIM:146510
HP:0012165	Oligodactyly	2737	GLI3	ORPHA:93322
HP:0012165	Oligodactyly	51360	MBTPS2	ORPHA:2273
HP:0012165	Oligodactyly	8364	H4C3	OMIM:619758
HP:0012165	Oligodactyly	9401	RECQL4	OMIM:218600
HP:0012165	Oligodactyly	8626	TP63	ORPHA:69085
HP:0012165	Oligodactyly	8626	TP63	ORPHA:1896
HP:0012165	Oligodactyly	8626	TP63	ORPHA:2440
HP:0012165	Oligodactyly	54101	RIPK4	OMIM:263650
HP:0012165	Oligodactyly	7476	WNT7A	OMIM:613005
HP:0012165	Oligodactyly	56603	CYP26B1	OMIM:614416
HP:0012165	Oligodactyly	1750	DLX6	ORPHA:2440
HP:0012165	Oligodactyly	7979	SEM1	ORPHA:2440
HP:0012165	Oligodactyly	8945	BTRC	ORPHA:2440
HP:0012165	Oligodactyly	58513	EPS15L1	ORPHA:2440
HP:0012165	Oligodactyly	6468	FBXW4	ORPHA:2440
HP:0012165	Oligodactyly	7480	WNT10B	ORPHA:2440
HP:0012165	Oligodactyly	1749	DLX5	ORPHA:2440
HP:0012165	Oligodactyly	3239	HOXD13	OMIM:610713
HP:0012165	Oligodactyly	29980	DONSON	OMIM:251230
HP:0012165	Oligodactyly	4038	LRP4	ORPHA:3258
HP:0012165	Oligodactyly	324	APC	ORPHA:3258
HP:0012166	Skin-picking	9759	HDAC4	OMIM:600430
HP:0012166	Skin-picking	6638	SNRPN	ORPHA:177904
HP:0012166	Skin-picking	6638	SNRPN	ORPHA:177901
HP:0012166	Skin-picking	6638	SNRPN	ORPHA:177907
HP:0012166	Skin-picking	6638	SNRPN	ORPHA:98754
HP:0012166	Skin-picking	4692	NDN	ORPHA:177904
HP:0012166	Skin-picking	4692	NDN	ORPHA:177901
HP:0012166	Skin-picking	4692	NDN	ORPHA:98754
HP:0012166	Skin-picking	54551	MAGEL2	ORPHA:177904
HP:0012166	Skin-picking	54551	MAGEL2	ORPHA:177901
HP:0012166	Skin-picking	54551	MAGEL2	ORPHA:398069
HP:0012166	Skin-picking	54551	MAGEL2	OMIM:615547
HP:0012166	Skin-picking	54551	MAGEL2	ORPHA:98754
HP:0012166	Skin-picking	4948	OCA2	ORPHA:177904
HP:0012166	Skin-picking	4948	OCA2	ORPHA:177901
HP:0012166	Skin-picking	4948	OCA2	ORPHA:98754
HP:0012166	Skin-picking	7874	USP7	ORPHA:500055
HP:0012166	Skin-picking	26038	CHD5	OMIM:619873
HP:0012166	Skin-picking	6492	SIM1	ORPHA:398079
HP:0012166	Skin-picking	55904	KMT2E	OMIM:618512
HP:0012166	Skin-picking	6532	SLC6A4	OMIM:164230
HP:0012166	Skin-picking	3356	HTR2A	OMIM:164230
HP:0012166	Skin-picking	26047	CNTNAP2	ORPHA:163681
HP:0012167	Hair-pulling	23230	VPS13A	ORPHA:2388
HP:0012167	Hair-pulling	23476	BRD4	OMIM:620568
HP:0012167	Hair-pulling	114798	SLITRK1	OMIM:613229
HP:0012167	Hair-pulling	1917	EEF1A2	OMIM:616393
HP:0012167	Hair-pulling	6509	SLC1A4	ORPHA:447997
HP:0012167	Hair-pulling	64864	RFX7	OMIM:620330
HP:0012168	Head-banging	473	RERE	OMIM:616975
HP:0012168	Head-banging	23230	VPS13A	ORPHA:2388
HP:0012168	Head-banging	1798	DPAGT1	ORPHA:86309
HP:0012168	Head-banging	374969	SVBP	OMIM:618569
HP:0012168	Head-banging	6638	SNRPN	ORPHA:177907
HP:0012168	Head-banging	57551	TAOK1	OMIM:619575
HP:0012168	Head-banging	10524	KAT5	OMIM:619103
HP:0012168	Head-banging	1974	EIF4A2	OMIM:620455
HP:0012168	Head-banging	5281	PIGF	OMIM:619356
HP:0012168	Head-banging	5594	MAPK1	OMIM:619087
HP:0012168	Head-banging	10743	RAI1	OMIM:182290
HP:0012169	Self-biting	55367	PIDD1	OMIM:619827
HP:0012169	Self-biting	10059	DNM1L	OMIM:614388
HP:0012169	Self-biting	476	ATP1A1	OMIM:618314
HP:0012169	Self-biting	9731	CEP104	OMIM:619988
HP:0012169	Self-biting	26834	RNU4-2	OMIM:620851
HP:0012169	Self-biting	6857	SYT1	ORPHA:522077
HP:0012169	Self-biting	340533	NEXMIF	OMIM:300912
HP:0012169	Self-biting	2332	FMR1	OMIM:300624
HP:0012169	Self-biting	4914	NTRK1	ORPHA:642
HP:0012169	Self-biting	64864	RFX7	OMIM:620330
HP:0012169	Self-biting	2314	FLII	ORPHA:819
HP:0012169	Self-biting	23096	IQSEC2	ORPHA:819
HP:0012169	Self-biting	10743	RAI1	ORPHA:819
HP:0012169	Self-biting	10743	RAI1	OMIM:182290
HP:0012169	Self-biting	10522	DEAF1	ORPHA:819
HP:0012170	Nail-biting	4914	NTRK1	ORPHA:642
HP:0012170	Nail-biting	55367	PIDD1	OMIM:619827
HP:0012170	Nail-biting	64864	RFX7	OMIM:620330
HP:0012170	Nail-biting	2314	FLII	ORPHA:819
HP:0012170	Nail-biting	23096	IQSEC2	ORPHA:819
HP:0012170	Nail-biting	10743	RAI1	ORPHA:819
HP:0012170	Nail-biting	10743	RAI1	OMIM:182290
HP:0012170	Nail-biting	10522	DEAF1	ORPHA:819
HP:0012171	Stereotypical hand wringing	9759	HDAC4	OMIM:600430
HP:0012171	Stereotypical hand wringing	4001	LMNB1	OMIM:619179
HP:0012171	Stereotypical hand wringing	8573	CASK	ORPHA:163937
HP:0012171	Stereotypical hand wringing	8367	H4C5	OMIM:619950
HP:0012171	Stereotypical hand wringing	340533	NEXMIF	OMIM:300912
HP:0012171	Stereotypical hand wringing	9698	PUM1	OMIM:620719
HP:0012171	Stereotypical hand wringing	1859	DYRK1A	ORPHA:268261
HP:0012171	Stereotypical hand wringing	1859	DYRK1A	OMIM:614104
HP:0012171	Stereotypical hand wringing	57680	CHD8	OMIM:615032
HP:0012171	Stereotypical hand wringing	6844	VAMP2	OMIM:618760
HP:0012171	Stereotypical hand wringing	2770	GNAI1	OMIM:619854
HP:0012171	Stereotypical hand wringing	51574	LARP7	ORPHA:319671
HP:0012171	Stereotypical hand wringing	26047	CNTNAP2	ORPHA:163681
HP:0012171	Stereotypical hand wringing	4247	MGAT2	ORPHA:79329
HP:0012171	Stereotypical hand wringing	4247	MGAT2	OMIM:212066
HP:0012171	Stereotypical hand wringing	23096	IQSEC2	ORPHA:397933
HP:0012171	Stereotypical hand wringing	6792	CDKL5	ORPHA:3095
HP:0012171	Stereotypical hand wringing	6792	CDKL5	ORPHA:505652
HP:0012171	Stereotypical hand wringing	22854	NTNG1	ORPHA:3095
HP:0012171	Stereotypical hand wringing	9568	GABBR2	ORPHA:3095
HP:0012171	Stereotypical hand wringing	4204	MECP2	ORPHA:3095
HP:0012171	Stereotypical hand wringing	4204	MECP2	OMIM:312750
HP:0012171	Stereotypical hand wringing	4204	MECP2	ORPHA:778
HP:0012171	Stereotypical hand wringing	8243	SMC1A	ORPHA:3095
HP:0012171	Stereotypical hand wringing	774	CACNA1B	OMIM:618497
HP:0012171	Stereotypical hand wringing	2902	GRIN1	OMIM:614254
HP:0012171	Stereotypical hand wringing	10659	CELF2	OMIM:619561
HP:0012171	Stereotypical hand wringing	3745	KCNB1	OMIM:616056
HP:0012171	Stereotypical hand wringing	2903	GRIN2A	ORPHA:289266
HP:0012171	Stereotypical hand wringing	112939	NACC1	ORPHA:500545
HP:0012171	Stereotypical hand wringing	22907	DHX30	OMIM:617804
HP:0012171	Stereotypical hand wringing	10472	ZBTB18	OMIM:612337
HP:0012171	Stereotypical hand wringing	6304	SATB1	OMIM:619229
HP:0012171	Stereotypical hand wringing	8905	AP1S2	OMIM:304340
HP:0012171	Stereotypical hand wringing	2891	GRIA2	OMIM:618917
HP:0012172	Stereotypical body rocking	57688	ZSWIM6	OMIM:617865
HP:0012172	Stereotypical body rocking	10730	YME1L1	OMIM:617302
HP:0012172	Stereotypical body rocking	2334	AFF2	ORPHA:100973
HP:0012172	Stereotypical body rocking	2334	AFF2	OMIM:309548
HP:0012172	Stereotypical body rocking	1798	DPAGT1	ORPHA:86309
HP:0012172	Stereotypical body rocking	2783	GNB2	OMIM:619503
HP:0012172	Stereotypical body rocking	80232	WDR26	ORPHA:513456
HP:0012172	Stereotypical body rocking	56992	KIF15	ORPHA:261323
HP:0012172	Stereotypical body rocking	340533	NEXMIF	OMIM:300912
HP:0012173	Orthostatic tachycardia	6530	SLC6A2	OMIM:604715
HP:0012174	Glioblastoma multiforme	64218	SEMA4A	ORPHA:440437
HP:0012174	Glioblastoma multiforme	472	ATM	ORPHA:440437
HP:0012174	Glioblastoma multiforme	5426	POLE	ORPHA:440437
HP:0012174	Glioblastoma multiforme	675	BRCA2	ORPHA:440437
HP:0012174	Glioblastoma multiforme	675	BRCA2	OMIM:613029
HP:0012174	Glioblastoma multiforme	657	BMPR1A	ORPHA:440437
HP:0012174	Glioblastoma multiforme	6224	RPS20	ORPHA:440437
HP:0012174	Glioblastoma multiforme	4595	MUTYH	ORPHA:440437
HP:0012174	Glioblastoma multiforme	5424	POLD1	ORPHA:440437
HP:0012174	Glioblastoma multiforme	11200	CHEK2	ORPHA:440437
HP:0012174	Glioblastoma multiforme	11200	CHEK2	ORPHA:524
HP:0012174	Glioblastoma multiforme	4072	EPCAM	ORPHA:144
HP:0012174	Glioblastoma multiforme	4292	MLH1	ORPHA:144
HP:0012174	Glioblastoma multiforme	4292	MLH1	OMIM:276300
HP:0012174	Glioblastoma multiforme	5395	PMS2	ORPHA:144
HP:0012174	Glioblastoma multiforme	5395	PMS2	OMIM:619101
HP:0012174	Glioblastoma multiforme	7048	TGFBR2	ORPHA:144
HP:0012174	Glioblastoma multiforme	3845	KRAS	ORPHA:144
HP:0012174	Glioblastoma multiforme	5290	PIK3CA	ORPHA:144
HP:0012174	Glioblastoma multiforme	2956	MSH6	ORPHA:144
HP:0012174	Glioblastoma multiforme	2956	MSH6	OMIM:619097
HP:0012174	Glioblastoma multiforme	5378	PMS1	ORPHA:144
HP:0012174	Glioblastoma multiforme	4436	MSH2	ORPHA:144
HP:0012174	Glioblastoma multiforme	4436	MSH2	OMIM:619096
HP:0012174	Glioblastoma multiforme	324	APC	ORPHA:99818
HP:0012174	Glioblastoma multiforme	2064	ERBB2	OMIM:137800
HP:0012174	Glioblastoma multiforme	7157	TP53	OMIM:137800
HP:0012174	Glioblastoma multiforme	7157	TP53	ORPHA:524
HP:0012174	Glioblastoma multiforme	3417	IDH1	OMIM:137800
HP:0012174	Glioblastoma multiforme	1029	CDKN2A	ORPHA:524
HP:0012174	Glioblastoma multiforme	4193	MDM2	ORPHA:524
HP:0012175	Resistance to activated protein C	2153	F5	OMIM:188055
HP:0012176	Abnormal natural killer cell morphology	1130	LYST	ORPHA:167
HP:0012176	Abnormal natural killer cell morphology	5591	PRKDC	OMIM:615966
HP:0012176	Abnormal natural killer cell morphology	915	CD3D	OMIM:615617
HP:0012176	Abnormal natural killer cell morphology	27040	LAT	OMIM:617514
HP:0012176	Abnormal natural killer cell morphology	84876	ORAI1	OMIM:612782
HP:0012176	Abnormal natural killer cell morphology	64170	CARD9	OMIM:212050
HP:0012176	Abnormal natural killer cell morphology	5896	RAG1	ORPHA:331206
HP:0012176	Abnormal natural killer cell morphology	5897	RAG2	ORPHA:331206
HP:0012176	Abnormal natural killer cell morphology	3561	IL2RG	OMIM:312863
HP:0012176	Abnormal natural killer cell morphology	51135	IRAK4	OMIM:607676
HP:0012176	Abnormal natural killer cell morphology	868	CBLB	OMIM:620430
HP:0012176	Abnormal natural killer cell morphology	3431	SP110	ORPHA:79124
HP:0012176	Abnormal natural killer cell morphology	4615	MYD88	OMIM:612260
HP:0012176	Abnormal natural killer cell morphology	1789	DNMT3B	OMIM:242860
HP:0012176	Abnormal natural killer cell morphology	970	CD70	OMIM:618261
HP:0012176	Abnormal natural killer cell morphology	3551	IKBKB	OMIM:615592
HP:0012176	Abnormal natural killer cell morphology	10043	TOM1	OMIM:619510
HP:0012176	Abnormal natural killer cell morphology	3572	IL6ST	OMIM:619752
HP:0012176	Abnormal natural killer cell morphology	55388	MCM10	OMIM:619313
HP:0012176	Abnormal natural killer cell morphology	5295	PIK3R1	OMIM:615214
HP:0012176	Abnormal natural killer cell morphology	9020	MAP3K14	OMIM:620449
HP:0012176	Abnormal natural killer cell morphology	5238	PGM3	ORPHA:443811
HP:0012176	Abnormal natural killer cell morphology	916	CD3E	OMIM:615615
HP:0012176	Abnormal natural killer cell morphology	3659	IRF1	OMIM:620668
HP:0012176	Abnormal natural killer cell morphology	8737	RIPK1	OMIM:618108
HP:0012176	Abnormal natural killer cell morphology	54440	SASH3	OMIM:301082
HP:0012176	Abnormal natural killer cell morphology	5293	PIK3CD	ORPHA:221139
HP:0012176	Abnormal natural killer cell morphology	90417	KNSTRN	ORPHA:221139
HP:0012176	Abnormal natural killer cell morphology	4173	MCM4	OMIM:609981
HP:0012176	Abnormal natural killer cell morphology	8546	AP3B1	OMIM:608233
HP:0012176	Abnormal natural killer cell morphology	6850	SYK	OMIM:619381
HP:0012176	Abnormal natural killer cell morphology	2000	ELF4	OMIM:301074
HP:0012176	Abnormal natural killer cell morphology	58484	NLRC4	OMIM:616050
HP:0012176	Abnormal natural killer cell morphology	81704	DOCK8	OMIM:243700
HP:0012176	Abnormal natural killer cell morphology	331	XIAP	ORPHA:538934
HP:0012176	Abnormal natural killer cell morphology	2624	GATA2	OMIM:614172
HP:0012176	Abnormal natural killer cell morphology	567	B2M	OMIM:241600
HP:0012176	Abnormal natural killer cell morphology	5788	PTPRC	OMIM:619924
HP:0012176	Abnormal natural killer cell morphology	5424	POLD1	OMIM:620836
HP:0012176	Abnormal natural killer cell morphology	5294	PIK3CG	OMIM:619802
HP:0012176	Abnormal natural killer cell morphology	2214	FCGR3A	OMIM:615707
HP:0012176	Abnormal natural killer cell morphology	5698	PSMB9	OMIM:620796
HP:0012176	Abnormal natural killer cell morphology	64858	DCLRE1B	OMIM:620133
HP:0012176	Abnormal natural killer cell morphology	3718	JAK3	OMIM:600802
HP:0012176	Abnormal natural killer cell morphology	3718	JAK3	ORPHA:35078
HP:0012176	Abnormal natural killer cell morphology	9837	GINS1	OMIM:617827
HP:0012177	Abnormal natural killer cell physiology	6813	STXBP2	OMIM:613101
HP:0012177	Abnormal natural killer cell physiology	5293	PIK3CD	OMIM:619281
HP:0012177	Abnormal natural killer cell physiology	5551	PRF1	ORPHA:540
HP:0012177	Abnormal natural killer cell physiology	5551	PRF1	OMIM:603553
HP:0012177	Abnormal natural killer cell physiology	8676	STX11	ORPHA:540
HP:0012177	Abnormal natural killer cell physiology	201294	UNC13D	ORPHA:540
HP:0012177	Abnormal natural killer cell physiology	201294	UNC13D	OMIM:608898
HP:0012177	Abnormal natural killer cell physiology	58484	NLRC4	OMIM:616050
HP:0012177	Abnormal natural killer cell physiology	7454	WAS	OMIM:301000
HP:0012177	Abnormal natural killer cell physiology	3561	IL2RG	OMIM:300400
HP:0012177	Abnormal natural killer cell physiology	3937	LCP2	OMIM:619374
HP:0012177	Abnormal natural killer cell physiology	7456	WIPF1	OMIM:614493
HP:0012177	Abnormal natural killer cell physiology	5580	PRKCD	OMIM:615559
HP:0012177	Abnormal natural killer cell physiology	2214	FCGR3A	OMIM:615707
HP:0012177	Abnormal natural killer cell physiology	8517	IKBKG	OMIM:300291
HP:0012177	Abnormal natural killer cell physiology	4068	SH2D1A	OMIM:308240
HP:0012177	Abnormal natural killer cell physiology	331	XIAP	OMIM:308240
HP:0012177	Abnormal natural killer cell physiology	8546	AP3B1	OMIM:608233
HP:0012178	Reduced natural killer cell activity	5293	PIK3CD	OMIM:619281
HP:0012178	Reduced natural killer cell activity	5551	PRF1	ORPHA:540
HP:0012178	Reduced natural killer cell activity	5551	PRF1	OMIM:603553
HP:0012178	Reduced natural killer cell activity	8676	STX11	ORPHA:540
HP:0012178	Reduced natural killer cell activity	201294	UNC13D	ORPHA:540
HP:0012178	Reduced natural killer cell activity	201294	UNC13D	OMIM:608898
HP:0012178	Reduced natural killer cell activity	6813	STXBP2	ORPHA:540
HP:0012178	Reduced natural killer cell activity	58484	NLRC4	OMIM:616050
HP:0012178	Reduced natural killer cell activity	7454	WAS	OMIM:301000
HP:0012178	Reduced natural killer cell activity	3561	IL2RG	OMIM:300400
HP:0012178	Reduced natural killer cell activity	3937	LCP2	OMIM:619374
HP:0012178	Reduced natural killer cell activity	7456	WIPF1	OMIM:614493
HP:0012178	Reduced natural killer cell activity	5580	PRKCD	OMIM:615559
HP:0012178	Reduced natural killer cell activity	2214	FCGR3A	OMIM:615707
HP:0012178	Reduced natural killer cell activity	8517	IKBKG	OMIM:300291
HP:0012178	Reduced natural killer cell activity	4068	SH2D1A	OMIM:308240
HP:0012178	Reduced natural killer cell activity	331	XIAP	OMIM:308240
HP:0012178	Reduced natural killer cell activity	8546	AP3B1	OMIM:608233
HP:0012179	Craniofacial dystonia	58	ACTA1	ORPHA:97240
HP:0012179	Craniofacial dystonia	10749	KIF1C	ORPHA:397946
HP:0012179	Craniofacial dystonia	10749	KIF1C	OMIM:611302
HP:0012179	Craniofacial dystonia	2643	GCH1	OMIM:128230
HP:0012179	Craniofacial dystonia	2643	GCH1	ORPHA:98808
HP:0012179	Craniofacial dystonia	1291	COL6A1	OMIM:254090
HP:0012179	Craniofacial dystonia	1291	COL6A1	ORPHA:75840
HP:0012179	Craniofacial dystonia	1291	COL6A1	OMIM:158810
HP:0012179	Craniofacial dystonia	55605	KIF21A	ORPHA:45358
HP:0012179	Craniofacial dystonia	347733	TUBB2B	ORPHA:45358
HP:0012179	Craniofacial dystonia	7846	TUBA1A	ORPHA:45358
HP:0012179	Craniofacial dystonia	401	PHOX2A	ORPHA:45358
HP:0012179	Craniofacial dystonia	10381	TUBB3	ORPHA:45358
HP:0012179	Craniofacial dystonia	10381	TUBB3	ORPHA:300570
HP:0012179	Craniofacial dystonia	84570	COL25A1	ORPHA:45358
HP:0012179	Craniofacial dystonia	1303	COL12A1	ORPHA:75840
HP:0012179	Craniofacial dystonia	1292	COL6A2	ORPHA:75840
HP:0012179	Craniofacial dystonia	1292	COL6A2	OMIM:620727
HP:0012179	Craniofacial dystonia	1293	COL6A3	ORPHA:75840
HP:0012179	Craniofacial dystonia	1293	COL6A3	OMIM:620728
HP:0012179	Craniofacial dystonia	1293	COL6A3	OMIM:616411
HP:0012179	Craniofacial dystonia	3208	HPCA	ORPHA:99657
HP:0012179	Craniofacial dystonia	3208	HPCA	OMIM:224500
HP:0012179	Craniofacial dystonia	5575	PRKAR1B	OMIM:619680
HP:0012179	Craniofacial dystonia	55187	VPS13D	OMIM:607317
HP:0012179	Craniofacial dystonia	91754	NEK9	OMIM:617022
HP:0012179	Craniofacial dystonia	81790	RNF170	OMIM:619686
HP:0012179	Craniofacial dystonia	387119	CEP85L	OMIM:618873
HP:0012179	Craniofacial dystonia	3781	KCNN2	OMIM:619724
HP:0012179	Craniofacial dystonia	1644	DDC	OMIM:608643
HP:0012179	Craniofacial dystonia	64221	ROBO3	OMIM:607313
HP:0012179	Craniofacial dystonia	63982	ANO3	ORPHA:420485
HP:0012179	Craniofacial dystonia	63982	ANO3	OMIM:615034
HP:0012179	Craniofacial dystonia	343641	TGM6	OMIM:613908
HP:0012179	Craniofacial dystonia	343641	TGM6	ORPHA:276193
HP:0012179	Craniofacial dystonia	8575	PRKRA	ORPHA:210571
HP:0012179	Craniofacial dystonia	64601	VPS16	OMIM:619291
HP:0012179	Craniofacial dystonia	25953	PNKD	OMIM:118800
HP:0012179	Craniofacial dystonia	25953	PNKD	ORPHA:98810
HP:0012179	Craniofacial dystonia	116228	COX20	OMIM:619054
HP:0012179	Craniofacial dystonia	8260	NAA10	OMIM:300855
HP:0012179	Craniofacial dystonia	8260	NAA10	ORPHA:276432
HP:0012179	Craniofacial dystonia	54834	GDAP2	OMIM:618369
HP:0012179	Craniofacial dystonia	23400	ATP13A2	OMIM:606693
HP:0012179	Craniofacial dystonia	7703	PCGF2	OMIM:618371
HP:0012179	Craniofacial dystonia	773	CACNA1A	ORPHA:97
HP:0012179	Craniofacial dystonia	773	CACNA1A	ORPHA:71518
HP:0012179	Craniofacial dystonia	1813	DRD2	ORPHA:36899
HP:0012179	Craniofacial dystonia	8910	SGCE	ORPHA:36899
HP:0012179	Craniofacial dystonia	8910	SGCE	OMIM:159900
HP:0012179	Craniofacial dystonia	79734	KCTD17	ORPHA:36899
HP:0012179	Craniofacial dystonia	79734	KCTD17	OMIM:616398
HP:0012179	Craniofacial dystonia	1861	TOR1A	ORPHA:36899
HP:0012179	Craniofacial dystonia	1861	TOR1A	OMIM:128100
HP:0012179	Craniofacial dystonia	84504	NKX6-2	OMIM:617560
HP:0012179	Craniofacial dystonia	10935	PRDX3	OMIM:619862
HP:0012179	Craniofacial dystonia	9256	TSPOAP1	OMIM:620456
HP:0012179	Craniofacial dystonia	9256	TSPOAP1	OMIM:620453
HP:0012179	Craniofacial dystonia	2313	FLI1	ORPHA:370348
HP:0012179	Craniofacial dystonia	112476	PRRT2	ORPHA:98810
HP:0012179	Craniofacial dystonia	1267	CNP	OMIM:619071
HP:0012179	Craniofacial dystonia	8558	CDK10	OMIM:617694
HP:0012179	Craniofacial dystonia	6711	SPTBN1	OMIM:619475
HP:0012179	Craniofacial dystonia	4929	NR4A2	ORPHA:98808
HP:0012179	Craniofacial dystonia	3615	IMPDH2	ORPHA:98808
HP:0012179	Craniofacial dystonia	10382	TUBB4A	ORPHA:98805
HP:0012179	Craniofacial dystonia	10382	TUBB4A	OMIM:128101
HP:0012179	Craniofacial dystonia	7701	ZNF142	OMIM:618425
HP:0012179	Craniofacial dystonia	3098	HK1	OMIM:618547
HP:0012179	Craniofacial dystonia	55823	VPS11	OMIM:619637
HP:0012179	Craniofacial dystonia	3748	KCNC3	ORPHA:98768
HP:0012179	Craniofacial dystonia	80036	TRPM3	OMIM:620224
HP:0012179	Craniofacial dystonia	93986	FOXP2	ORPHA:251061
HP:0012179	Craniofacial dystonia	11198	SUPT16H	OMIM:619480
HP:0012179	Craniofacial dystonia	79796	ALG9	ORPHA:79328
HP:0012179	Craniofacial dystonia	78989	COLEC11	OMIM:265050
HP:0012179	Craniofacial dystonia	128240	NAXE	OMIM:617186
HP:0012179	Craniofacial dystonia	4617	MYF5	OMIM:618155
HP:0012179	Craniofacial dystonia	23187	PHLDB1	OMIM:620639
HP:0012179	Craniofacial dystonia	6663	SOX10	OMIM:609136
HP:0012179	Craniofacial dystonia	6908	TBP	ORPHA:98759
HP:0012179	Craniofacial dystonia	126792	B3GALT6	ORPHA:536467
HP:0012179	Craniofacial dystonia	2898	GRIK2	OMIM:611092
HP:0012179	Craniofacial dystonia	8831	SYNGAP1	OMIM:612621
HP:0012179	Craniofacial dystonia	256472	TMEM151A	OMIM:620245
HP:0012179	Craniofacial dystonia	3679	ITGA7	OMIM:613204
HP:0012179	Craniofacial dystonia	7042	TGFB2	OMIM:614816
HP:0012179	Craniofacial dystonia	6342	SCP2	OMIM:613724
HP:0012179	Craniofacial dystonia	59341	TRPV4	OMIM:181405
HP:0012179	Craniofacial dystonia	57167	SALL4	ORPHA:233
HP:0012179	Craniofacial dystonia	9935	MAFB	ORPHA:233
HP:0012179	Craniofacial dystonia	1123	CHN1	ORPHA:233
HP:0012179	Craniofacial dystonia	7291	TWIST1	ORPHA:794
HP:0012179	Craniofacial dystonia	2263	FGFR2	ORPHA:794
HP:0012179	Craniofacial dystonia	2261	FGFR3	ORPHA:794
HP:0012179	Craniofacial dystonia	1816	DRD5	OMIM:606798
HP:0012179	Craniofacial dystonia	2512	FTL	OMIM:606159
HP:0012179	Craniofacial dystonia	2512	FTL	ORPHA:157846
HP:0012179	Craniofacial dystonia	4137	MAPT	ORPHA:240071
HP:0012179	Craniofacial dystonia	4137	MAPT	ORPHA:240094
HP:0012179	Craniofacial dystonia	10815	CPLX1	ORPHA:352582
HP:0012179	Craniofacial dystonia	57465	TBC1D24	ORPHA:352582
HP:0012179	Craniofacial dystonia	6872	TAF1	ORPHA:53351
HP:0012179	Craniofacial dystonia	80025	PANK2	OMIM:234200
HP:0012179	Craniofacial dystonia	3339	HSPG2	ORPHA:800
HP:0012179	Craniofacial dystonia	1822	ATN1	ORPHA:101
HP:0012179	Craniofacial dystonia	84172	POLR1B	ORPHA:861
HP:0012179	Craniofacial dystonia	9533	POLR1C	ORPHA:861
HP:0012179	Craniofacial dystonia	51082	POLR1D	ORPHA:861
HP:0012179	Craniofacial dystonia	6949	TCOF1	ORPHA:861
HP:0012179	Craniofacial dystonia	56910	STARD7	OMIM:607876
HP:0012179	Craniofacial dystonia	11315	PARK7	OMIM:606324
HP:0012179	Craniofacial dystonia	23230	VPS13A	ORPHA:2388
HP:0012179	Craniofacial dystonia	1545	CYP1B1	ORPHA:98976
HP:0012179	Craniofacial dystonia	4053	LTBP2	ORPHA:98976
HP:0012179	Craniofacial dystonia	4653	MYOC	ORPHA:98976
HP:0012179	Craniofacial dystonia	7010	TEK	ORPHA:98976
HP:0012179	Craniofacial dystonia	4070	TACSTD2	ORPHA:98957
HP:0012179	Craniofacial dystonia	80347	COASY	ORPHA:397725
HP:0012179	Craniofacial dystonia	80347	COASY	OMIM:615643
HP:0012179	Craniofacial dystonia	23516	SLC39A14	OMIM:617013
HP:0012179	Craniofacial dystonia	23516	SLC39A14	ORPHA:521406
HP:0012179	Craniofacial dystonia	6531	SLC6A3	OMIM:613135
HP:0012179	Craniofacial dystonia	1678	TIMM8A	ORPHA:52368
HP:0012179	Craniofacial dystonia	2521	FUS	ORPHA:300605
HP:0012179	Craniofacial dystonia	80208	SPG11	ORPHA:300605
HP:0012179	Craniofacial dystonia	10280	SIGMAR1	ORPHA:300605
HP:0012179	Craniofacial dystonia	10558	SPTLC1	ORPHA:300605
HP:0012179	Craniofacial dystonia	57679	ALS2	ORPHA:300605
HP:0012179	Craniofacial dystonia	83636	C19orf12	OMIM:614298
HP:0012179	Craniofacial dystonia	9898	UBAP2L	OMIM:620494
HP:0012179	Craniofacial dystonia	25792	CIZ1	ORPHA:420492
HP:0012179	Craniofacial dystonia	16	AARS1	OMIM:619691
HP:0012179	Craniofacial dystonia	51102	MECR	OMIM:617282
HP:0012179	Craniofacial dystonia	51102	MECR	ORPHA:508093
HP:0012179	Craniofacial dystonia	55697	VAC14	OMIM:617054
HP:0012179	Craniofacial dystonia	84909	AOPEP	OMIM:619565
HP:0012179	Craniofacial dystonia	9757	KMT2B	OMIM:617284
HP:0012179	Craniofacial dystonia	4700	NDUFA6	OMIM:618253
HP:0012179	Craniofacial dystonia	478	ATP1A3	ORPHA:71517
HP:0012179	Craniofacial dystonia	2774	GNAL	ORPHA:329466
HP:0012179	Craniofacial dystonia	1356	CP	ORPHA:48818
HP:0012179	Craniofacial dystonia	55145	THAP1	ORPHA:98806
HP:0012179	Craniofacial dystonia	80704	SLC19A3	OMIM:607483
HP:0012179	Craniofacial dystonia	65055	REEP1	OMIM:620011
HP:0012179	Craniofacial dystonia	55768	NGLY1	ORPHA:404454
HP:0012180	Cystic medial necrosis	4629	MYH11	OMIM:132900
HP:0012180	Cystic medial necrosis	7046	TGFBR1	ORPHA:91387
HP:0012180	Cystic medial necrosis	7048	TGFBR2	ORPHA:91387
HP:0012180	Cystic medial necrosis	4015	LOX	ORPHA:91387
HP:0012180	Cystic medial necrosis	4087	SMAD2	ORPHA:91387
HP:0012180	Cystic medial necrosis	7043	TGFB3	ORPHA:91387
HP:0012180	Cystic medial necrosis	4088	SMAD3	ORPHA:91387
HP:0012180	Cystic medial necrosis	7042	TGFB2	ORPHA:91387
HP:0012180	Cystic medial necrosis	4089	SMAD4	ORPHA:91387
HP:0012180	Cystic medial necrosis	2200	FBN1	ORPHA:91387
HP:0012180	Cystic medial necrosis	59	ACTA2	ORPHA:91387
HP:0012180	Cystic medial necrosis	5592	PRKG1	ORPHA:91387
HP:0012180	Cystic medial necrosis	2301	FOXE3	ORPHA:91387
HP:0012180	Cystic medial necrosis	4144	MAT2A	ORPHA:91387
HP:0012180	Cystic medial necrosis	23493	HEY2	ORPHA:91387
HP:0012180	Cystic medial necrosis	8076	MFAP5	ORPHA:91387
HP:0012180	Cystic medial necrosis	4638	MYLK	ORPHA:91387
HP:0012180	Cystic medial necrosis	79875	THSD4	ORPHA:91387
HP:0012180	Cystic medial necrosis	2006	ELN	ORPHA:91387
HP:0012181	Entrapment neuropathy	760	CA2	ORPHA:2785
HP:0012181	Entrapment neuropathy	7276	TTR	OMIM:115430
HP:0012181	Entrapment neuropathy	7276	TTR	OMIM:105210
HP:0012181	Entrapment neuropathy	7276	TTR	ORPHA:85447
HP:0012181	Entrapment neuropathy	7276	TTR	ORPHA:85451
HP:0012181	Entrapment neuropathy	595	CCND1	ORPHA:29073
HP:0012181	Entrapment neuropathy	79628	SH3TC2	OMIM:613353
HP:0012181	Entrapment neuropathy	3423	IDS	ORPHA:217085
HP:0012181	Entrapment neuropathy	3423	IDS	ORPHA:217093
HP:0012181	Entrapment neuropathy	2778	GNAS	ORPHA:79443
HP:0012181	Entrapment neuropathy	2778	GNAS	ORPHA:79444
HP:0012181	Entrapment neuropathy	83550	GPR101	ORPHA:963
HP:0012181	Entrapment neuropathy	9049	AIP	ORPHA:963
HP:0012181	Entrapment neuropathy	79158	GNPTAB	ORPHA:423461
HP:0012181	Entrapment neuropathy	79158	GNPTAB	OMIM:252600
HP:0012181	Entrapment neuropathy	411	ARSB	OMIM:253200
HP:0012181	Entrapment neuropathy	1311	COMP	OMIM:619161
HP:0012181	Entrapment neuropathy	2934	GSN	ORPHA:85448
HP:0012181	Entrapment neuropathy	4000	LMNA	OMIM:151660
HP:0012181	Entrapment neuropathy	6288	SAA1	ORPHA:85445
HP:0012181	Entrapment neuropathy	3425	IDUA	OMIM:607014
HP:0012181	Entrapment neuropathy	3425	IDUA	OMIM:607016
HP:0012181	Entrapment neuropathy	567	B2M	ORPHA:314652
HP:0012182	Oropharyngeal squamous cell carcinoma	545	ATR	OMIM:614564
HP:0012182	Oropharyngeal squamous cell carcinoma	6772	STAT1	ORPHA:391487
HP:0012182	Oropharyngeal squamous cell carcinoma	1736	DKC1	OMIM:305000
HP:0012182	Oropharyngeal squamous cell carcinoma	23476	BRD4	ORPHA:443167
HP:0012182	Oropharyngeal squamous cell carcinoma	256646	NUTM1	ORPHA:443167
HP:0012182	Oropharyngeal squamous cell carcinoma	1029	CDKN2A	OMIM:606719
HP:0012183	Hyperplastic colonic polyposis	657	BMPR1A	OMIM:610069
HP:0012183	Hyperplastic colonic polyposis	657	BMPR1A	ORPHA:157794
HP:0012183	Hyperplastic colonic polyposis	26585	GREM1	ORPHA:157794
HP:0012184	Increased HDL cholesterol concentration	3990	LIPC	OMIM:614025
HP:0012184	Increased HDL cholesterol concentration	3990	LIPC	ORPHA:140905
HP:0012184	Increased HDL cholesterol concentration	345	APOC3	OMIM:614028
HP:0012184	Increased HDL cholesterol concentration	1071	CETP	OMIM:143470
HP:0012185	Constrictive median neuropathy	7276	TTR	OMIM:115430
HP:0012185	Constrictive median neuropathy	7276	TTR	OMIM:105210
HP:0012185	Constrictive median neuropathy	7276	TTR	ORPHA:85447
HP:0012185	Constrictive median neuropathy	7276	TTR	ORPHA:85451
HP:0012185	Constrictive median neuropathy	595	CCND1	ORPHA:29073
HP:0012185	Constrictive median neuropathy	79628	SH3TC2	OMIM:613353
HP:0012185	Constrictive median neuropathy	3423	IDS	ORPHA:217085
HP:0012185	Constrictive median neuropathy	3423	IDS	ORPHA:217093
HP:0012185	Constrictive median neuropathy	2778	GNAS	ORPHA:79443
HP:0012185	Constrictive median neuropathy	2778	GNAS	ORPHA:79444
HP:0012185	Constrictive median neuropathy	83550	GPR101	ORPHA:963
HP:0012185	Constrictive median neuropathy	9049	AIP	ORPHA:963
HP:0012185	Constrictive median neuropathy	79158	GNPTAB	ORPHA:423461
HP:0012185	Constrictive median neuropathy	79158	GNPTAB	OMIM:252600
HP:0012185	Constrictive median neuropathy	411	ARSB	OMIM:253200
HP:0012185	Constrictive median neuropathy	1311	COMP	OMIM:619161
HP:0012185	Constrictive median neuropathy	2934	GSN	ORPHA:85448
HP:0012185	Constrictive median neuropathy	4000	LMNA	OMIM:151660
HP:0012185	Constrictive median neuropathy	6288	SAA1	ORPHA:85445
HP:0012185	Constrictive median neuropathy	3425	IDUA	OMIM:607014
HP:0012185	Constrictive median neuropathy	3425	IDUA	OMIM:607016
HP:0012185	Constrictive median neuropathy	567	B2M	ORPHA:314652
HP:0012187	Increased erythrocyte protoporphyrin concentration	22	ABCB7	OMIM:301310
HP:0012187	Increased erythrocyte protoporphyrin concentration	22	ABCB7	ORPHA:2802
HP:0012187	Increased erythrocyte protoporphyrin concentration	210	ALAD	ORPHA:100924
HP:0012187	Increased erythrocyte protoporphyrin concentration	10845	CLPX	OMIM:618015
HP:0012187	Increased erythrocyte protoporphyrin concentration	7390	UROS	ORPHA:79277
HP:0012187	Increased erythrocyte protoporphyrin concentration	2623	GATA1	ORPHA:79277
HP:0012187	Increased erythrocyte protoporphyrin concentration	212	ALAS2	OMIM:300752
HP:0012187	Increased erythrocyte protoporphyrin concentration	5498	PPOX	OMIM:620483
HP:0012188	Hyperemesis gravidarum	7253	TSHR	ORPHA:99819
HP:0012188	Hyperemesis gravidarum	7253	TSHR	OMIM:603373
HP:0012188	Hyperemesis gravidarum	9518	GDF15	OMIM:620730
HP:0012189	Hodgkin lymphoma	3604	TNFRSF9	OMIM:620282
HP:0012189	Hodgkin lymphoma	970	CD70	OMIM:618261
HP:0012189	Hodgkin lymphoma	355	FAS	ORPHA:3261
HP:0012189	Hodgkin lymphoma	356	FASLG	ORPHA:3261
HP:0012189	Hodgkin lymphoma	843	CASP10	ORPHA:3261
HP:0012189	Hodgkin lymphoma	84061	MAGT1	OMIM:300853
HP:0012189	Hodgkin lymphoma	54894	RNF43	ORPHA:157798
HP:0012189	Hodgkin lymphoma	3702	ITK	OMIM:613011
HP:0012189	Hodgkin lymphoma	50619	DEF6	OMIM:619573
HP:0012189	Hodgkin lymphoma	8651	SOCS1	OMIM:619375
HP:0012189	Hodgkin lymphoma	6774	STAT3	OMIM:615952
HP:0012189	Hodgkin lymphoma	5238	PGM3	OMIM:615816
HP:0012189	Hodgkin lymphoma	1736	DKC1	OMIM:305000
HP:0012189	Hodgkin lymphoma	6789	STK4	OMIM:614868
HP:0012189	Hodgkin lymphoma	6925	TCF4	ORPHA:2896
HP:0012189	Hodgkin lymphoma	200942	KLHDC8B	OMIM:236000
HP:0012189	Hodgkin lymphoma	7373	COL14A1	ORPHA:79501
HP:0012189	Hodgkin lymphoma	79719	AAGAB	ORPHA:79501
HP:0012189	Hodgkin lymphoma	7157	TP53	ORPHA:524
HP:0012189	Hodgkin lymphoma	1029	CDKN2A	ORPHA:524
HP:0012189	Hodgkin lymphoma	4193	MDM2	ORPHA:524
HP:0012189	Hodgkin lymphoma	11200	CHEK2	ORPHA:524
HP:0012189	Hodgkin lymphoma	939	CD27	OMIM:615122
HP:0012189	Hodgkin lymphoma	472	ATM	OMIM:208900
HP:0012189	Hodgkin lymphoma	5426	POLE	OMIM:618336
HP:0012190	T-cell lymphoma	2956	MSH6	OMIM:619097
HP:0012190	T-cell lymphoma	5426	POLE	OMIM:618336
HP:0012190	T-cell lymphoma	355	FAS	ORPHA:3261
HP:0012190	T-cell lymphoma	356	FASLG	ORPHA:3261
HP:0012190	T-cell lymphoma	843	CASP10	ORPHA:3261
HP:0012190	T-cell lymphoma	4683	NBN	ORPHA:647
HP:0012190	T-cell lymphoma	57217	TTC7A	OMIM:243150
HP:0012190	T-cell lymphoma	4292	MLH1	OMIM:276300
HP:0012190	T-cell lymphoma	1493	CTLA4	ORPHA:3162
HP:0012190	T-cell lymphoma	1493	CTLA4	ORPHA:2584
HP:0012190	T-cell lymphoma	940	CD28	ORPHA:3162
HP:0012190	T-cell lymphoma	940	CD28	ORPHA:2584
HP:0012190	T-cell lymphoma	7133	TNFRSF1B	ORPHA:3162
HP:0012190	T-cell lymphoma	7133	TNFRSF1B	ORPHA:2584
HP:0012190	T-cell lymphoma	84868	HAVCR2	OMIM:618398
HP:0012191	B-cell lymphoma	6850	SYK	OMIM:619381
HP:0012191	B-cell lymphoma	1729	DIAPH1	ORPHA:477814
HP:0012191	B-cell lymphoma	355	FAS	ORPHA:3261
HP:0012191	B-cell lymphoma	356	FASLG	ORPHA:3261
HP:0012191	B-cell lymphoma	843	CASP10	ORPHA:3261
HP:0012191	B-cell lymphoma	595	CCND1	ORPHA:52416
HP:0012191	B-cell lymphoma	472	ATM	ORPHA:52416
HP:0012191	B-cell lymphoma	3492	IGH	ORPHA:52416
HP:0012191	B-cell lymphoma	3492	IGH	ORPHA:52417
HP:0012191	B-cell lymphoma	330	BIRC3	ORPHA:52417
HP:0012191	B-cell lymphoma	10892	MALT1	ORPHA:52417
HP:0012191	B-cell lymphoma	27086	FOXP1	ORPHA:52417
HP:0012191	B-cell lymphoma	8915	BCL10	ORPHA:52417
HP:0012191	B-cell lymphoma	84061	MAGT1	OMIM:300853
HP:0012191	B-cell lymphoma	23149	FCHO1	OMIM:619164
HP:0012191	B-cell lymphoma	3702	ITK	OMIM:613011
HP:0012191	B-cell lymphoma	100	ADA	OMIM:102700
HP:0012191	B-cell lymphoma	5788	PTPRC	OMIM:619924
HP:0012191	B-cell lymphoma	5295	PIK3R1	OMIM:616005
HP:0012191	B-cell lymphoma	10125	RASGRP1	OMIM:618534
HP:0012191	B-cell lymphoma	22806	IKZF3	OMIM:619437
HP:0012191	B-cell lymphoma	4683	NBN	ORPHA:647
HP:0012191	B-cell lymphoma	6778	STAT6	OMIM:620532
HP:0012191	B-cell lymphoma	4773	NFATC2	OMIM:620232
HP:0012192	Cutaneous T-cell lymphoma	1493	CTLA4	ORPHA:3162
HP:0012192	Cutaneous T-cell lymphoma	1493	CTLA4	ORPHA:2584
HP:0012192	Cutaneous T-cell lymphoma	940	CD28	ORPHA:3162
HP:0012192	Cutaneous T-cell lymphoma	940	CD28	ORPHA:2584
HP:0012192	Cutaneous T-cell lymphoma	7133	TNFRSF1B	ORPHA:3162
HP:0012192	Cutaneous T-cell lymphoma	7133	TNFRSF1B	ORPHA:2584
HP:0012194	Episodic hemiplegia	477	ATP1A2	OMIM:104290
HP:0012194	Episodic hemiplegia	477	ATP1A2	ORPHA:2131
HP:0012194	Episodic hemiplegia	773	CACNA1A	ORPHA:2131
HP:0012194	Episodic hemiplegia	6507	SLC1A3	ORPHA:2131
HP:0012194	Episodic hemiplegia	478	ATP1A3	ORPHA:2131
HP:0012195	Irregular respiration	9997	SCO2	OMIM:604377
HP:0012196	Cheyne-Stokes respiration	2744	GLS	OMIM:618328
HP:0012196	Cheyne-Stokes respiration	16	AARS1	OMIM:619661
HP:0012197	Insulinoma	389692	MAFA	OMIM:147630
HP:0012197	Insulinoma	4221	MEN1	ORPHA:652
HP:0012197	Insulinoma	4221	MEN1	OMIM:131100
HP:0012197	Insulinoma	1027	CDKN1B	ORPHA:652
HP:0012197	Insulinoma	1027	CDKN1B	ORPHA:276152
HP:0012197	Insulinoma	1026	CDKN1A	ORPHA:652
HP:0012197	Insulinoma	1030	CDKN2B	ORPHA:652
HP:0012197	Insulinoma	1031	CDKN2C	ORPHA:652
HP:0012198	Juvenile colonic polyposis	657	BMPR1A	OMIM:610069
HP:0012198	Juvenile colonic polyposis	657	BMPR1A	ORPHA:157794
HP:0012198	Juvenile colonic polyposis	26585	GREM1	ORPHA:157794
HP:0033001	Laryngeal papilloma	22861	NLRP1	OMIM:618803
HP:0033001	Laryngeal papilloma	22861	NLRP1	OMIM:617388
HP:0033001	Laryngeal papilloma	64840	PORCN	OMIM:305600
HP:0033004	Palmar warts	10625	IVNS1ABP	OMIM:618969
HP:0033004	Palmar warts	920	CD4	OMIM:619238
HP:0033005	Plantar warts	10625	IVNS1ABP	OMIM:618969
HP:0033005	Plantar warts	920	CD4	OMIM:619238
HP:0033005	Plantar warts	3981	LIG4	OMIM:606593
HP:0033008	Increased Z-disc width	442721	LMOD2	OMIM:619897
HP:0033008	Increased Z-disc width	339855	KY	OMIM:617114
HP:0033009	Increased fecal coproporphyrin 1	7390	UROS	OMIM:263700
HP:0033009	Increased fecal coproporphyrin 1	7390	UROS	ORPHA:79277
HP:0033009	Increased fecal coproporphyrin 1	2623	GATA1	ORPHA:79277
HP:0033010	Increased fecal coproporphyrin 3	210	ALAD	ORPHA:100924
HP:0033010	Increased fecal coproporphyrin 3	1371	CPOX	OMIM:121300
HP:0033011	Platystencephaly	4330	MN1	OMIM:618774
HP:0033019	Male reproductive system neoplasm	6662	SOX9	ORPHA:251510
HP:0033019	Male reproductive system neoplasm	6845	VAMP7	ORPHA:251510
HP:0033019	Male reproductive system neoplasm	51741	WWOX	ORPHA:251510
HP:0033019	Male reproductive system neoplasm	4214	MAP3K1	ORPHA:251510
HP:0033019	Male reproductive system neoplasm	2516	NR5A1	ORPHA:251510
HP:0033019	Male reproductive system neoplasm	57647	DHX37	ORPHA:251510
HP:0033019	Male reproductive system neoplasm	6736	SRY	ORPHA:251510
HP:0033019	Male reproductive system neoplasm	23414	ZFPM2	ORPHA:251510
HP:0033019	Male reproductive system neoplasm	190	NR0B1	ORPHA:251510
HP:0033019	Male reproductive system neoplasm	2626	GATA4	ORPHA:251510
HP:0033019	Male reproductive system neoplasm	6794	STK11	OMIM:175200
HP:0033019	Male reproductive system neoplasm	79577	CDC73	ORPHA:143
HP:0033019	Male reproductive system neoplasm	79577	CDC73	ORPHA:99880
HP:0033019	Male reproductive system neoplasm	284058	KANSL1	ORPHA:363965
HP:0033019	Male reproductive system neoplasm	284058	KANSL1	ORPHA:363958
HP:0033019	Male reproductive system neoplasm	2130	EWSR1	ORPHA:83469
HP:0033019	Male reproductive system neoplasm	7490	WT1	ORPHA:83469
HP:0033019	Male reproductive system neoplasm	412	STS	OMIM:308100
HP:0033019	Male reproductive system neoplasm	367	AR	ORPHA:99429
HP:0033019	Male reproductive system neoplasm	1027	CDKN1B	ORPHA:276152
HP:0033019	Male reproductive system neoplasm	5573	PRKAR1A	ORPHA:1359
HP:0033019	Male reproductive system neoplasm	50940	PDE11A	ORPHA:1359
HP:0033019	Male reproductive system neoplasm	207	AKT1	ORPHA:744
HP:0033019	Male reproductive system neoplasm	672	BRCA1	ORPHA:145
HP:0033019	Male reproductive system neoplasm	5892	RAD51D	ORPHA:145
HP:0033019	Male reproductive system neoplasm	675	BRCA2	ORPHA:145
HP:0033019	Male reproductive system neoplasm	675	BRCA2	OMIM:176807
HP:0033019	Male reproductive system neoplasm	5728	PTEN	ORPHA:145
HP:0033019	Male reproductive system neoplasm	5728	PTEN	OMIM:176807
HP:0033019	Male reproductive system neoplasm	10111	RAD50	ORPHA:145
HP:0033019	Male reproductive system neoplasm	580	BARD1	ORPHA:145
HP:0033019	Male reproductive system neoplasm	5888	RAD51	ORPHA:145
HP:0033019	Male reproductive system neoplasm	4683	NBN	ORPHA:145
HP:0033019	Male reproductive system neoplasm	5889	RAD51C	ORPHA:145
HP:0033019	Male reproductive system neoplasm	83990	BRIP1	ORPHA:145
HP:0033019	Male reproductive system neoplasm	4361	MRE11	ORPHA:145
HP:0033019	Male reproductive system neoplasm	79728	PALB2	ORPHA:145
HP:0033019	Male reproductive system neoplasm	11200	CHEK2	ORPHA:145
HP:0033019	Male reproductive system neoplasm	11200	CHEK2	OMIM:176807
HP:0033019	Male reproductive system neoplasm	11200	CHEK2	ORPHA:524
HP:0033019	Male reproductive system neoplasm	2048	EPHB2	OMIM:603688
HP:0033019	Male reproductive system neoplasm	463	ZFHX3	OMIM:176807
HP:0033019	Male reproductive system neoplasm	4601	MXI1	OMIM:176807
HP:0033019	Male reproductive system neoplasm	8379	MAD1L1	OMIM:176807
HP:0033019	Male reproductive system neoplasm	1316	KLF6	OMIM:176807
HP:0033019	Male reproductive system neoplasm	54894	RNF43	ORPHA:157798
HP:0033019	Male reproductive system neoplasm	6041	RNASEL	OMIM:601518
HP:0033019	Male reproductive system neoplasm	26585	GREM1	ORPHA:157794
HP:0033019	Male reproductive system neoplasm	657	BMPR1A	ORPHA:157794
HP:0033019	Male reproductive system neoplasm	2304	FOXE1	OMIM:616534
HP:0033019	Male reproductive system neoplasm	4665	NAB2	ORPHA:2126
HP:0033019	Male reproductive system neoplasm	6778	STAT6	ORPHA:2126
HP:0033019	Male reproductive system neoplasm	4913	NTHL1	OMIM:616415
HP:0033019	Male reproductive system neoplasm	324	APC	ORPHA:79665
HP:0033019	Male reproductive system neoplasm	7373	COL14A1	ORPHA:79501
HP:0033019	Male reproductive system neoplasm	79719	AAGAB	ORPHA:79501
HP:0033019	Male reproductive system neoplasm	1029	CDKN2A	ORPHA:524
HP:0033019	Male reproductive system neoplasm	4193	MDM2	ORPHA:524
HP:0033019	Male reproductive system neoplasm	56246	MRAP	ORPHA:361
HP:0033019	Male reproductive system neoplasm	6770	STAR	ORPHA:361
HP:0033019	Male reproductive system neoplasm	4158	MC2R	ORPHA:361
HP:0033019	Male reproductive system neoplasm	23530	NNT	ORPHA:361
HP:0033019	Male reproductive system neoplasm	10587	TXNRD2	ORPHA:361
HP:0033019	Male reproductive system neoplasm	1584	CYP11B1	ORPHA:90795
HP:0033019	Male reproductive system neoplasm	9817	KEAP1	ORPHA:276399
HP:0033019	Male reproductive system neoplasm	23405	DICER1	ORPHA:276399
HP:0033019	Male reproductive system neoplasm	3481	IGF2	OMIM:180860
HP:0033019	Male reproductive system neoplasm	7157	TP53	OMIM:151623
HP:0033019	Male reproductive system neoplasm	2313	FLI1	ORPHA:370348
HP:0033020	Female reproductive system neoplasm	4771	NF2	ORPHA:93921
HP:0033020	Female reproductive system neoplasm	6598	SMARCB1	ORPHA:93921
HP:0033020	Female reproductive system neoplasm	51004	COQ6	ORPHA:93921
HP:0033020	Female reproductive system neoplasm	8216	LZTR1	ORPHA:93921
HP:0033020	Female reproductive system neoplasm	79577	CDC73	ORPHA:143
HP:0033020	Female reproductive system neoplasm	79577	CDC73	ORPHA:99880
HP:0033020	Female reproductive system neoplasm	2261	FGFR3	OMIM:616482
HP:0033020	Female reproductive system neoplasm	4437	MSH3	ORPHA:480536
HP:0033020	Female reproductive system neoplasm	4437	MSH3	OMIM:617100
HP:0033020	Female reproductive system neoplasm	581	BAX	OMIM:114500
HP:0033020	Female reproductive system neoplasm	25788	RAD54B	OMIM:114500
HP:0033020	Female reproductive system neoplasm	5795	PTPRJ	OMIM:114500
HP:0033020	Female reproductive system neoplasm	5157	PDGFRL	OMIM:114500
HP:0033020	Female reproductive system neoplasm	1630	DCC	OMIM:114500
HP:0033020	Female reproductive system neoplasm	207	AKT1	OMIM:114500
HP:0033020	Female reproductive system neoplasm	7157	TP53	OMIM:114500
HP:0033020	Female reproductive system neoplasm	673	BRAF	OMIM:114500
HP:0033020	Female reproductive system neoplasm	10395	DLC1	OMIM:114500
HP:0033020	Female reproductive system neoplasm	8313	AXIN2	OMIM:114500
HP:0033020	Female reproductive system neoplasm	4163	MCC	OMIM:114500
HP:0033020	Female reproductive system neoplasm	201163	FLCN	OMIM:114500
HP:0033020	Female reproductive system neoplasm	595	CCND1	OMIM:114500
HP:0033020	Female reproductive system neoplasm	7097	TLR2	OMIM:114500
HP:0033020	Female reproductive system neoplasm	6714	SRC	OMIM:114500
HP:0033020	Female reproductive system neoplasm	2033	EP300	OMIM:114500
HP:0033020	Female reproductive system neoplasm	27030	MLH3	OMIM:114500
HP:0033020	Female reproductive system neoplasm	5320	PLA2G2A	OMIM:114500
HP:0033020	Female reproductive system neoplasm	1499	CTNNB1	OMIM:114500
HP:0033020	Female reproductive system neoplasm	6790	AURKA	OMIM:114500
HP:0033020	Female reproductive system neoplasm	4893	NRAS	OMIM:114500
HP:0033020	Female reproductive system neoplasm	324	APC	OMIM:114500
HP:0033020	Female reproductive system neoplasm	5782	PTPN12	OMIM:114500
HP:0033020	Female reproductive system neoplasm	5290	PIK3CA	OMIM:114500
HP:0033020	Female reproductive system neoplasm	64218	SEMA4A	ORPHA:440437
HP:0033020	Female reproductive system neoplasm	472	ATM	ORPHA:440437
HP:0033020	Female reproductive system neoplasm	5426	POLE	ORPHA:440437
HP:0033020	Female reproductive system neoplasm	675	BRCA2	ORPHA:440437
HP:0033020	Female reproductive system neoplasm	657	BMPR1A	ORPHA:440437
HP:0033020	Female reproductive system neoplasm	6224	RPS20	ORPHA:440437
HP:0033020	Female reproductive system neoplasm	4595	MUTYH	ORPHA:440437
HP:0033020	Female reproductive system neoplasm	5424	POLD1	ORPHA:440437
HP:0033020	Female reproductive system neoplasm	11200	CHEK2	ORPHA:440437
HP:0033020	Female reproductive system neoplasm	4665	NAB2	ORPHA:2126
HP:0033020	Female reproductive system neoplasm	6778	STAT6	ORPHA:2126
HP:0033020	Female reproductive system neoplasm	6794	STK11	OMIM:175200
HP:0033020	Female reproductive system neoplasm	5728	PTEN	ORPHA:109
HP:0033020	Female reproductive system neoplasm	2313	FLI1	ORPHA:370348
HP:0033020	Female reproductive system neoplasm	1288	COL4A6	ORPHA:1018
HP:0033020	Female reproductive system neoplasm	1287	COL4A5	ORPHA:1018
HP:0033020	Female reproductive system neoplasm	4072	EPCAM	ORPHA:144
HP:0033020	Female reproductive system neoplasm	4072	EPCAM	OMIM:613244
HP:0033020	Female reproductive system neoplasm	4292	MLH1	ORPHA:144
HP:0033020	Female reproductive system neoplasm	5395	PMS2	ORPHA:144
HP:0033020	Female reproductive system neoplasm	5395	PMS2	OMIM:614337
HP:0033020	Female reproductive system neoplasm	7048	TGFBR2	ORPHA:144
HP:0033020	Female reproductive system neoplasm	3845	KRAS	ORPHA:144
HP:0033020	Female reproductive system neoplasm	2956	MSH6	ORPHA:144
HP:0033020	Female reproductive system neoplasm	2956	MSH6	OMIM:614350
HP:0033020	Female reproductive system neoplasm	2956	MSH6	OMIM:608089
HP:0033020	Female reproductive system neoplasm	5378	PMS1	ORPHA:144
HP:0033020	Female reproductive system neoplasm	4436	MSH2	ORPHA:144
HP:0033020	Female reproductive system neoplasm	10483	SEC23B	ORPHA:201
HP:0033020	Female reproductive system neoplasm	6390	SDHB	ORPHA:201
HP:0033020	Female reproductive system neoplasm	6392	SDHD	ORPHA:201
HP:0033020	Female reproductive system neoplasm	6391	SDHC	ORPHA:201
HP:0033020	Female reproductive system neoplasm	205717	USF3	ORPHA:201
HP:0033020	Female reproductive system neoplasm	100144748	KLLN	ORPHA:201
HP:0033020	Female reproductive system neoplasm	388662	SLC6A17	ORPHA:457212
HP:0033020	Female reproductive system neoplasm	26585	GREM1	ORPHA:157794
HP:0033020	Female reproductive system neoplasm	4913	NTHL1	ORPHA:454840
HP:0033020	Female reproductive system neoplasm	4913	NTHL1	OMIM:616415
HP:0033020	Female reproductive system neoplasm	999	CDH1	OMIM:608089
HP:0033020	Female reproductive system neoplasm	81704	DOCK8	ORPHA:217390
HP:0033020	Female reproductive system neoplasm	9184	BUB3	ORPHA:1052
HP:0033020	Female reproductive system neoplasm	699	BUB1	ORPHA:1052
HP:0033020	Female reproductive system neoplasm	9702	CEP57	ORPHA:1052
HP:0033020	Female reproductive system neoplasm	9319	TRIP13	ORPHA:1052
HP:0033020	Female reproductive system neoplasm	701	BUB1B	ORPHA:1052
HP:0033020	Female reproductive system neoplasm	2271	FH	ORPHA:523
HP:0033026	White oral mucosal macule	64131	XYLT1	OMIM:264800
HP:0033026	White oral mucosal macule	64132	XYLT2	OMIM:264800
HP:0033026	White oral mucosal macule	368	ABCC6	OMIM:264800
HP:0033027	Retinal peau d'orange	5167	ENPP1	ORPHA:758
HP:0033027	Retinal peau d'orange	368	ABCC6	ORPHA:758
HP:0033027	Retinal peau d'orange	368	ABCC6	OMIM:264800
HP:0033027	Retinal peau d'orange	2677	GGCX	OMIM:610842
HP:0033027	Retinal peau d'orange	64131	XYLT1	OMIM:264800
HP:0033027	Retinal peau d'orange	64132	XYLT2	OMIM:264800
HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	139818	DOCK11	OMIM:301109
HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	2215	FCGR3B	ORPHA:536
HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	6775	STAT4	ORPHA:536
HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	3684	ITGAM	ORPHA:536
HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	3586	IL10	ORPHA:536
HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	221895	JAZF1	ORPHA:536
HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	11277	TREX1	ORPHA:536
HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	7292	TNFSF4	ORPHA:536
HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	640	BLK	ORPHA:536
HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	720	C4A	ORPHA:536
HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	55024	BANK1	ORPHA:536
HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	3500	IGHG1	ORPHA:536
HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	3654	IRAK1	ORPHA:536
HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	1493	CTLA4	ORPHA:536
HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	26191	PTPN22	ORPHA:536
HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	1380	CR2	ORPHA:536
HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	5133	PDCD1	ORPHA:536
HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	2113	ETS1	ORPHA:536
HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	2213	FCGR2B	ORPHA:536
HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	10318	TNIP1	ORPHA:536
HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	7332	UBE2L3	ORPHA:536
HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	79932	KIAA0319L	ORPHA:536
HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	4204	MECP2	ORPHA:536
HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	3663	IRF5	ORPHA:536
HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	3123	HLA-DRB1	ORPHA:536
HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	721	C4B	ORPHA:536
HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	1773	DNASE1	ORPHA:536
HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	51284	TLR7	ORPHA:536
HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	6696	SPP1	ORPHA:536
HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	54899	PXK	ORPHA:536
HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	7128	TNFAIP3	ORPHA:536
HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	8651	SOCS1	OMIM:619375
HP:0033031	Hyperpyrexia	667	DST	OMIM:614653
HP:0033031	Hyperpyrexia	2581	GALC	ORPHA:206436
HP:0033031	Hyperpyrexia	5660	PSAP	ORPHA:206436
HP:0033034	Anti-citrullinated protein antibody positivity	3586	IL10	OMIM:180300
HP:0033034	Anti-citrullinated protein antibody positivity	6583	SLC22A4	OMIM:180300
HP:0033034	Anti-citrullinated protein antibody positivity	26191	PTPN22	OMIM:180300
HP:0033034	Anti-citrullinated protein antibody positivity	4261	CIITA	OMIM:180300
HP:0033034	Anti-citrullinated protein antibody positivity	51744	CD244	OMIM:180300
HP:0033034	Anti-citrullinated protein antibody positivity	4795	NFKBIL1	OMIM:180300
HP:0033036	Decreased nasal nitric oxide	374407	DNAJB13	OMIM:617091
HP:0033036	Decreased nasal nitric oxide	139212	DNAAF6	OMIM:300991
HP:0033036	Decreased nasal nitric oxide	85016	CFAP300	OMIM:618063
HP:0033036	Decreased nasal nitric oxide	83538	ODAD4	OMIM:617092
HP:0033036	Decreased nasal nitric oxide	92749	DRC1	OMIM:615294
HP:0033036	Decreased nasal nitric oxide	1770	DNAH9	OMIM:618300
HP:0033036	Decreased nasal nitric oxide	83861	RSPH3	OMIM:616481
HP:0033036	Decreased nasal nitric oxide	152110	NEK10	OMIM:618781
HP:0033036	Decreased nasal nitric oxide	23568	ARL2BP	OMIM:615434
HP:0033036	Decreased nasal nitric oxide	10309	CCNO	OMIM:615872
HP:0033036	Decreased nasal nitric oxide	64446	DNAI2	OMIM:612444
HP:0033036	Decreased nasal nitric oxide	345895	RSPH4A	OMIM:612649
HP:0033036	Decreased nasal nitric oxide	89765	RSPH1	OMIM:615481
HP:0033036	Decreased nasal nitric oxide	345643	MCIDAS	OMIM:618695
HP:0033036	Decreased nasal nitric oxide	115399	LRRC56	OMIM:618254
HP:0033036	Decreased nasal nitric oxide	57728	WDR19	OMIM:614378
HP:0033036	Decreased nasal nitric oxide	56683	CFAP298	OMIM:615500
HP:0033036	Decreased nasal nitric oxide	221421	RSPH9	OMIM:612650
HP:0033036	Decreased nasal nitric oxide	54919	DNAAF5	OMIM:614874
HP:0033036	Decreased nasal nitric oxide	146845	CFAP52	OMIM:619607
HP:0033036	Decreased nasal nitric oxide	54014	BRWD1	OMIM:620438
HP:0033036	Decreased nasal nitric oxide	51364	ZMYND10	OMIM:615444
HP:0033036	Decreased nasal nitric oxide	25790	CFAP45	OMIM:619608
HP:0033036	Decreased nasal nitric oxide	115948	ODAD3	OMIM:616037
HP:0033036	Decreased nasal nitric oxide	85478	CCDC65	OMIM:615504
HP:0033036	Decreased nasal nitric oxide	8701	DNAH11	OMIM:611884
HP:0033036	Decreased nasal nitric oxide	6674	SPAG1	OMIM:615505
HP:0033036	Decreased nasal nitric oxide	1767	DNAH5	OMIM:608644
HP:0033036	Decreased nasal nitric oxide	85452	CFAP74	OMIM:620197
HP:0012202	Increased serum bile acid concentration	9414	TJP2	OMIM:607748
HP:0012202	Increased serum bile acid concentration	5205	ATP8B1	OMIM:243300
HP:0012202	Increased serum bile acid concentration	5205	ATP8B1	ORPHA:69665
HP:0012202	Increased serum bile acid concentration	10165	SLC25A13	OMIM:605814
HP:0012202	Increased serum bile acid concentration	6888	TALDO1	ORPHA:101028
HP:0012202	Increased serum bile acid concentration	5244	ABCB4	OMIM:602347
HP:0012202	Increased serum bile acid concentration	5244	ABCB4	ORPHA:69665
HP:0012202	Increased serum bile acid concentration	6554	SLC10A1	OMIM:619256
HP:0012202	Increased serum bile acid concentration	55610	VPS50	OMIM:619685
HP:0012202	Increased serum bile acid concentration	55898	UNC45A	OMIM:619377
HP:0012202	Increased serum bile acid concentration	6514	SLC2A2	OMIM:227810
HP:0012202	Increased serum bile acid concentration	57003	CCDC47	OMIM:618268
HP:0012202	Increased serum bile acid concentration	8482	SEMA7A	OMIM:619874
HP:0012202	Increased serum bile acid concentration	162	AP1B1	OMIM:242150
HP:0012202	Increased serum bile acid concentration	5825	ABCD3	OMIM:616278
HP:0012202	Increased serum bile acid concentration	8647	ABCB11	ORPHA:69665
HP:0012202	Increased serum bile acid concentration	9971	NR1H4	ORPHA:69665
HP:0012202	Increased serum bile acid concentration	113220	KIF12	OMIM:619662
HP:0012202	Increased serum bile acid concentration	4358	MPV17	OMIM:256810
HP:0012202	Increased serum bile acid concentration	4645	MYO5B	OMIM:619868
HP:0012202	Increased serum bile acid concentration	26276	VPS33B	OMIM:620010
HP:0012202	Increased serum bile acid concentration	199221	DZIP1L	ORPHA:731
HP:0012202	Increased serum bile acid concentration	5314	PKHD1	ORPHA:731
HP:0012202	Increased serum bile acid concentration	134218	DNAJC21	ORPHA:811
HP:0012202	Increased serum bile acid concentration	79631	EFL1	ORPHA:811
HP:0012202	Increased serum bile acid concentration	51119	SBDS	ORPHA:811
HP:0012203	Onychomycosis	64170	CARD9	OMIM:212050
HP:0012203	Onychomycosis	3594	IL12RB1	ORPHA:186
HP:0012203	Onychomycosis	23534	TNPO3	ORPHA:186
HP:0012203	Onychomycosis	3592	IL12A	ORPHA:186
HP:0012203	Onychomycosis	6689	SPIB	ORPHA:186
HP:0012203	Onychomycosis	5450	POU2AF1	ORPHA:186
HP:0012203	Onychomycosis	9966	TNFSF15	ORPHA:186
HP:0012203	Onychomycosis	79258	MMEL1	ORPHA:186
HP:0012203	Onychomycosis	3663	IRF5	ORPHA:186
HP:0012203	Onychomycosis	6772	STAT1	OMIM:614162
HP:0012203	Onychomycosis	326	AIRE	OMIM:240300
HP:0012203	Onychomycosis	146206	CARMIL2	OMIM:618131
HP:0012203	Onychomycosis	121214	SDR9C7	OMIM:617574
HP:0012203	Onychomycosis	3848	KRT1	ORPHA:530838
HP:0012203	Onychomycosis	4791	NFKB2	OMIM:615577
HP:0012203	Onychomycosis	79415	CYBC1	OMIM:618935
HP:0012203	Onychomycosis	84818	IL17RC	OMIM:616445
HP:0012203	Onychomycosis	545	ATR	OMIM:614564
HP:0012203	Onychomycosis	10758	TRAF3IP2	OMIM:615527
HP:0012203	Onychomycosis	3248	HPGD	ORPHA:217059
HP:0012203	Onychomycosis	5336	PLCG2	OMIM:614468
HP:0012203	Onychomycosis	64581	CLEC7A	OMIM:613108
HP:0012203	Onychomycosis	81704	DOCK8	ORPHA:217390
HP:0012204	Recurrent vulvovaginal candidiasis	6772	STAT1	OMIM:614162
HP:0012204	Recurrent vulvovaginal candidiasis	64581	CLEC7A	OMIM:613108
HP:0012205	Globozoospermia	81833	SPACA1	OMIM:620490
HP:0012205	Globozoospermia	84660	CCDC62	OMIM:619803
HP:0012205	Globozoospermia	199720	GGN	OMIM:619826
HP:0012205	Globozoospermia	151254	C2CD6	OMIM:619805
HP:0012205	Globozoospermia	11055	ZPBP	OMIM:619799
HP:0012205	Globozoospermia	283417	DPY19L2	OMIM:613958
HP:0012205	Globozoospermia	83893	SPATA16	OMIM:102530
HP:0012205	Globozoospermia	54967	CT55	OMIM:301106
HP:0012205	Globozoospermia	881	CCIN	OMIM:620838
HP:0012206	Abnormal sperm motility	25981	DNAH1	ORPHA:244
HP:0012206	Abnormal sperm motility	115948	ODAD3	ORPHA:244
HP:0012206	Abnormal sperm motility	54768	HYDIN	ORPHA:244
HP:0012206	Abnormal sperm motility	352909	DNAAF3	ORPHA:244
HP:0012206	Abnormal sperm motility	27148	STK36	ORPHA:244
HP:0012206	Abnormal sperm motility	51314	NME8	ORPHA:244
HP:0012206	Abnormal sperm motility	92749	DRC1	ORPHA:244
HP:0012206	Abnormal sperm motility	54970	TTC12	ORPHA:244
HP:0012206	Abnormal sperm motility	152110	NEK10	ORPHA:244
HP:0012206	Abnormal sperm motility	8481	OFD1	ORPHA:244
HP:0012206	Abnormal sperm motility	2302	FOXJ1	ORPHA:244
HP:0012206	Abnormal sperm motility	221421	RSPH9	ORPHA:244
HP:0012206	Abnormal sperm motility	85478	CCDC65	ORPHA:244
HP:0012206	Abnormal sperm motility	55036	CCDC40	ORPHA:244
HP:0012206	Abnormal sperm motility	51364	ZMYND10	ORPHA:244
HP:0012206	Abnormal sperm motility	64446	DNAI2	ORPHA:244
HP:0012206	Abnormal sperm motility	8382	NME5	ORPHA:244
HP:0012206	Abnormal sperm motility	6674	SPAG1	ORPHA:244
HP:0012206	Abnormal sperm motility	83544	DNAL1	ORPHA:244
HP:0012206	Abnormal sperm motility	89765	RSPH1	ORPHA:244
HP:0012206	Abnormal sperm motility	83538	ODAD4	ORPHA:244
HP:0012206	Abnormal sperm motility	200373	CFAP221	ORPHA:244
HP:0012206	Abnormal sperm motility	374407	DNAJB13	ORPHA:244
HP:0012206	Abnormal sperm motility	55172	DNAAF2	ORPHA:244
HP:0012206	Abnormal sperm motility	161582	DNAAF4	ORPHA:244
HP:0012206	Abnormal sperm motility	2622	GAS8	ORPHA:244
HP:0012206	Abnormal sperm motility	23639	DNAAF11	ORPHA:244
HP:0012206	Abnormal sperm motility	27019	DNAI1	ORPHA:244
HP:0012206	Abnormal sperm motility	345895	RSPH4A	ORPHA:244
HP:0012206	Abnormal sperm motility	54919	DNAAF5	ORPHA:244
HP:0012206	Abnormal sperm motility	6103	RPGR	ORPHA:244
HP:0012206	Abnormal sperm motility	85452	CFAP74	ORPHA:244
HP:0012206	Abnormal sperm motility	93233	ODAD1	ORPHA:244
HP:0012206	Abnormal sperm motility	55130	ODAD2	ORPHA:244
HP:0012206	Abnormal sperm motility	1767	DNAH5	ORPHA:244
HP:0012206	Abnormal sperm motility	83861	RSPH3	ORPHA:244
HP:0012206	Abnormal sperm motility	345643	MCIDAS	ORPHA:244
HP:0012206	Abnormal sperm motility	56683	CFAP298	ORPHA:244
HP:0012206	Abnormal sperm motility	79925	SPEF2	ORPHA:244
HP:0012206	Abnormal sperm motility	10309	CCNO	ORPHA:244
HP:0012206	Abnormal sperm motility	115399	LRRC56	ORPHA:244
HP:0012206	Abnormal sperm motility	139212	DNAAF6	ORPHA:244
HP:0012206	Abnormal sperm motility	123872	DNAAF1	ORPHA:244
HP:0012206	Abnormal sperm motility	85016	CFAP300	ORPHA:244
HP:0012206	Abnormal sperm motility	339829	CCDC39	ORPHA:244
HP:0012206	Abnormal sperm motility	8701	DNAH11	ORPHA:244
HP:0012206	Abnormal sperm motility	1770	DNAH9	ORPHA:244
HP:0012206	Abnormal sperm motility	246176	GAS2L2	ORPHA:244
HP:0012206	Abnormal sperm motility	5573	PRKAR1A	ORPHA:1359
HP:0012206	Abnormal sperm motility	50940	PDE11A	ORPHA:1359
HP:0012206	Abnormal sperm motility	23568	ARL2BP	OMIM:615434
HP:0012206	Abnormal sperm motility	199223	TTC21A	OMIM:618429
HP:0012206	Abnormal sperm motility	124404	SEPTIN12	OMIM:614822
HP:0012206	Abnormal sperm motility	144132	DNHD1	OMIM:619712
HP:0012206	Abnormal sperm motility	196385	DNAH10	OMIM:619515
HP:0012206	Abnormal sperm motility	83894	TTC29	OMIM:618745
HP:0012206	Abnormal sperm motility	755	CFAP410	OMIM:602271
HP:0012206	Abnormal sperm motility	286464	CFAP47	OMIM:301059
HP:0012206	Abnormal sperm motility	317719	KLHL10	OMIM:615081
HP:0012206	Abnormal sperm motility	6756	SSX1	OMIM:301099
HP:0012206	Abnormal sperm motility	140732	SUN5	OMIM:617187
HP:0012206	Abnormal sperm motility	140732	SUN5	ORPHA:529970
HP:0012206	Abnormal sperm motility	84071	ARMC2	OMIM:618433
HP:0012206	Abnormal sperm motility	144406	CFAP251	OMIM:618152
HP:0012206	Abnormal sperm motility	201134	CEP112	OMIM:619044
HP:0012206	Abnormal sperm motility	401024	FSIP2	OMIM:618153
HP:0012206	Abnormal sperm motility	54014	BRWD1	OMIM:620438
HP:0012206	Abnormal sperm motility	57704	GBA2	ORPHA:320391
HP:0012206	Abnormal sperm motility	56171	DNAH7	OMIM:620356
HP:0012206	Abnormal sperm motility	7802	DNALI1	OMIM:620354
HP:0012206	Abnormal sperm motility	157855	KCNU1	OMIM:620196
HP:0012206	Abnormal sperm motility	146754	DNAH2	OMIM:619094
HP:0012206	Abnormal sperm motility	83844	USP26	OMIM:301101
HP:0012206	Abnormal sperm motility	91057	CCDC34	OMIM:620084
HP:0012206	Abnormal sperm motility	1769	DNAH8	OMIM:619095
HP:0012206	Abnormal sperm motility	51726	DNAJB11	ORPHA:730
HP:0012206	Abnormal sperm motility	23193	GANAB	ORPHA:730
HP:0012206	Abnormal sperm motility	5310	PKD1	ORPHA:730
HP:0012206	Abnormal sperm motility	5311	PKD2	ORPHA:730
HP:0012206	Abnormal sperm motility	29880	ALG5	ORPHA:730
HP:0012206	Abnormal sperm motility	9742	IFT140	ORPHA:730
HP:0012206	Abnormal sperm motility	79796	ALG9	ORPHA:730
HP:0012206	Abnormal sperm motility	80114	BICC1	ORPHA:730
HP:0012206	Abnormal sperm motility	80217	CFAP43	OMIM:617592
HP:0012206	Abnormal sperm motility	375307	CATIP	OMIM:619379
HP:0012206	Abnormal sperm motility	8632	DNAH17	OMIM:618643
HP:0012206	Abnormal sperm motility	6928	HNF1B	OMIM:137920
HP:0012206	Abnormal sperm motility	54967	CT55	OMIM:301106
HP:0012206	Abnormal sperm motility	83449	PMFBP1	ORPHA:529970
HP:0012206	Abnormal sperm motility	89876	CFAP91	OMIM:619177
HP:0012206	Abnormal sperm motility	881	CCIN	OMIM:620838
HP:0012206	Abnormal sperm motility	10233	LRRC23	OMIM:620848
HP:0012206	Abnormal sperm motility	79846	CFAP69	OMIM:617959
HP:0012206	Abnormal sperm motility	200162	SPAG17	OMIM:619380
HP:0012206	Abnormal sperm motility	116369	SLC26A8	OMIM:606766
HP:0012206	Abnormal sperm motility	159686	CFAP58	OMIM:619144
HP:0012206	Abnormal sperm motility	26074	CFAP61	OMIM:620409
HP:0012206	Abnormal sperm motility	65975	STK33	OMIM:620849
HP:0012206	Abnormal sperm motility	122481	AK7	OMIM:617965
HP:0012206	Abnormal sperm motility	676	BRDT	OMIM:617644
HP:0012206	Abnormal sperm motility	5161	PDHA2	OMIM:619828
HP:0012206	Abnormal sperm motility	161497	STRC	OMIM:611102
HP:0012206	Abnormal sperm motility	161497	STRC	OMIM:612997
HP:0012206	Abnormal sperm motility	117155	CATSPER2	OMIM:611102
HP:0012206	Abnormal sperm motility	117155	CATSPER2	OMIM:612997
HP:0012206	Abnormal sperm motility	117144	CATSPER1	OMIM:612997
HP:0012206	Abnormal sperm motility	57639	CCDC146	OMIM:620850
HP:0012206	Abnormal sperm motility	6691	SPINK2	OMIM:618091
HP:0012206	Abnormal sperm motility	22873	DZIP1	OMIM:619102
HP:0012206	Abnormal sperm motility	255101	CFAP65	OMIM:618664
HP:0012206	Abnormal sperm motility	118491	CFAP70	OMIM:618670
HP:0012206	Abnormal sperm motility	8556	CDC14A	OMIM:608653
HP:0012206	Abnormal sperm motility	81833	SPACA1	OMIM:620490
HP:0012206	Abnormal sperm motility	1538	CYLC1	OMIM:301119
HP:0012206	Abnormal sperm motility	286151	FBXO43	OMIM:619696
HP:0012206	Abnormal sperm motility	80173	IFT74	OMIM:619585
HP:0012206	Abnormal sperm motility	25790	CFAP45	OMIM:619608
HP:0012206	Abnormal sperm motility	140801	RPL10L	OMIM:619689
HP:0012206	Abnormal sperm motility	221481	ARMC12	OMIM:620744
HP:0012206	Abnormal sperm motility	57728	WDR19	OMIM:619867
HP:0012206	Abnormal sperm motility	10566	AKAP3	OMIM:620353
HP:0012206	Abnormal sperm motility	64518	TEKT3	OMIM:620277
HP:0012207	Reduced sperm motility	25981	DNAH1	OMIM:617576
HP:0012207	Reduced sperm motility	23568	ARL2BP	OMIM:615434
HP:0012207	Reduced sperm motility	199223	TTC21A	OMIM:618429
HP:0012207	Reduced sperm motility	124404	SEPTIN12	OMIM:614822
HP:0012207	Reduced sperm motility	27148	STK36	OMIM:619436
HP:0012207	Reduced sperm motility	144132	DNHD1	OMIM:619712
HP:0012207	Reduced sperm motility	196385	DNAH10	OMIM:619515
HP:0012207	Reduced sperm motility	83894	TTC29	OMIM:618745
HP:0012207	Reduced sperm motility	755	CFAP410	OMIM:602271
HP:0012207	Reduced sperm motility	345895	RSPH4A	OMIM:612649
HP:0012207	Reduced sperm motility	286464	CFAP47	OMIM:301059
HP:0012207	Reduced sperm motility	317719	KLHL10	OMIM:615081
HP:0012207	Reduced sperm motility	54768	HYDIN	OMIM:608647
HP:0012207	Reduced sperm motility	6756	SSX1	OMIM:301099
HP:0012207	Reduced sperm motility	140732	SUN5	OMIM:617187
HP:0012207	Reduced sperm motility	140732	SUN5	ORPHA:529970
HP:0012207	Reduced sperm motility	79925	SPEF2	OMIM:618751
HP:0012207	Reduced sperm motility	84071	ARMC2	OMIM:618433
HP:0012207	Reduced sperm motility	144406	CFAP251	OMIM:618152
HP:0012207	Reduced sperm motility	201134	CEP112	OMIM:619044
HP:0012207	Reduced sperm motility	401024	FSIP2	OMIM:618153
HP:0012207	Reduced sperm motility	221421	RSPH9	OMIM:612650
HP:0012207	Reduced sperm motility	54014	BRWD1	OMIM:620438
HP:0012207	Reduced sperm motility	51364	ZMYND10	OMIM:615444
HP:0012207	Reduced sperm motility	57704	GBA2	ORPHA:320391
HP:0012207	Reduced sperm motility	56171	DNAH7	OMIM:620356
HP:0012207	Reduced sperm motility	7802	DNALI1	OMIM:620354
HP:0012207	Reduced sperm motility	157855	KCNU1	OMIM:620196
HP:0012207	Reduced sperm motility	146754	DNAH2	OMIM:619094
HP:0012207	Reduced sperm motility	83844	USP26	OMIM:301101
HP:0012207	Reduced sperm motility	91057	CCDC34	OMIM:620084
HP:0012207	Reduced sperm motility	1769	DNAH8	OMIM:619095
HP:0012207	Reduced sperm motility	51726	DNAJB11	ORPHA:730
HP:0012207	Reduced sperm motility	23193	GANAB	ORPHA:730
HP:0012207	Reduced sperm motility	5310	PKD1	ORPHA:730
HP:0012207	Reduced sperm motility	5311	PKD2	ORPHA:730
HP:0012207	Reduced sperm motility	29880	ALG5	ORPHA:730
HP:0012207	Reduced sperm motility	9742	IFT140	ORPHA:730
HP:0012207	Reduced sperm motility	79796	ALG9	ORPHA:730
HP:0012207	Reduced sperm motility	80114	BICC1	ORPHA:730
HP:0012207	Reduced sperm motility	80217	CFAP43	OMIM:617592
HP:0012207	Reduced sperm motility	375307	CATIP	OMIM:619379
HP:0012207	Reduced sperm motility	8632	DNAH17	OMIM:618643
HP:0012207	Reduced sperm motility	6928	HNF1B	OMIM:137920
HP:0012207	Reduced sperm motility	54967	CT55	OMIM:301106
HP:0012207	Reduced sperm motility	83449	PMFBP1	ORPHA:529970
HP:0012207	Reduced sperm motility	89876	CFAP91	OMIM:619177
HP:0012207	Reduced sperm motility	881	CCIN	OMIM:620838
HP:0012207	Reduced sperm motility	10233	LRRC23	OMIM:620848
HP:0012207	Reduced sperm motility	79846	CFAP69	OMIM:617959
HP:0012207	Reduced sperm motility	200162	SPAG17	OMIM:619380
HP:0012207	Reduced sperm motility	116369	SLC26A8	OMIM:606766
HP:0012207	Reduced sperm motility	159686	CFAP58	OMIM:619144
HP:0012207	Reduced sperm motility	26074	CFAP61	OMIM:620409
HP:0012207	Reduced sperm motility	65975	STK33	OMIM:620849
HP:0012207	Reduced sperm motility	56683	CFAP298	OMIM:615500
HP:0012207	Reduced sperm motility	122481	AK7	OMIM:617965
HP:0012207	Reduced sperm motility	676	BRDT	OMIM:617644
HP:0012207	Reduced sperm motility	5161	PDHA2	OMIM:619828
HP:0012207	Reduced sperm motility	161497	STRC	OMIM:611102
HP:0012207	Reduced sperm motility	161497	STRC	OMIM:612997
HP:0012207	Reduced sperm motility	117155	CATSPER2	OMIM:611102
HP:0012207	Reduced sperm motility	117155	CATSPER2	OMIM:612997
HP:0012207	Reduced sperm motility	117144	CATSPER1	OMIM:612997
HP:0012207	Reduced sperm motility	57639	CCDC146	OMIM:620850
HP:0012207	Reduced sperm motility	339829	CCDC39	OMIM:613807
HP:0012207	Reduced sperm motility	374407	DNAJB13	OMIM:617091
HP:0012207	Reduced sperm motility	6691	SPINK2	OMIM:618091
HP:0012207	Reduced sperm motility	22873	DZIP1	OMIM:619102
HP:0012207	Reduced sperm motility	255101	CFAP65	OMIM:618664
HP:0012207	Reduced sperm motility	118491	CFAP70	OMIM:618670
HP:0012207	Reduced sperm motility	80173	IFT74	OMIM:619585
HP:0012207	Reduced sperm motility	54919	DNAAF5	OMIM:614874
HP:0012207	Reduced sperm motility	246176	GAS2L2	OMIM:618449
HP:0012207	Reduced sperm motility	8556	CDC14A	OMIM:608653
HP:0012207	Reduced sperm motility	55036	CCDC40	OMIM:613808
HP:0012208	Immotile sperm	374407	DNAJB13	OMIM:617091
HP:0012208	Immotile sperm	6691	SPINK2	OMIM:618091
HP:0012208	Immotile sperm	22873	DZIP1	OMIM:619102
HP:0012208	Immotile sperm	255101	CFAP65	OMIM:618664
HP:0012208	Immotile sperm	118491	CFAP70	OMIM:618670
HP:0012208	Immotile sperm	80173	IFT74	OMIM:619585
HP:0012208	Immotile sperm	221421	RSPH9	OMIM:612650
HP:0012208	Immotile sperm	54919	DNAAF5	OMIM:614874
HP:0012208	Immotile sperm	117144	CATSPER1	OMIM:612997
HP:0012208	Immotile sperm	161497	STRC	OMIM:612997
HP:0012208	Immotile sperm	117155	CATSPER2	OMIM:612997
HP:0012208	Immotile sperm	246176	GAS2L2	OMIM:618449
HP:0012208	Immotile sperm	8556	CDC14A	OMIM:608653
HP:0012208	Immotile sperm	55036	CCDC40	OMIM:613808
HP:0012208	Immotile sperm	339829	CCDC39	OMIM:613807
HP:0012209	Juvenile myelomonocytic leukemia	867	CBL	OMIM:613563
HP:0012209	Juvenile myelomonocytic leukemia	867	CBL	ORPHA:648
HP:0012209	Juvenile myelomonocytic leukemia	867	CBL	OMIM:607785
HP:0012209	Juvenile myelomonocytic leukemia	4893	NRAS	OMIM:613224
HP:0012209	Juvenile myelomonocytic leukemia	4893	NRAS	ORPHA:648
HP:0012209	Juvenile myelomonocytic leukemia	22800	RRAS2	ORPHA:648
HP:0012209	Juvenile myelomonocytic leukemia	8216	LZTR1	ORPHA:648
HP:0012209	Juvenile myelomonocytic leukemia	6016	RIT1	ORPHA:648
HP:0012209	Juvenile myelomonocytic leukemia	6237	RRAS	ORPHA:648
HP:0012209	Juvenile myelomonocytic leukemia	5894	RAF1	ORPHA:648
HP:0012209	Juvenile myelomonocytic leukemia	22808	MRAS	ORPHA:648
HP:0012209	Juvenile myelomonocytic leukemia	3845	KRAS	ORPHA:648
HP:0012209	Juvenile myelomonocytic leukemia	3845	KRAS	OMIM:609942
HP:0012209	Juvenile myelomonocytic leukemia	200734	SPRED2	ORPHA:648
HP:0012209	Juvenile myelomonocytic leukemia	6654	SOS1	ORPHA:648
HP:0012209	Juvenile myelomonocytic leukemia	6655	SOS2	ORPHA:648
HP:0012209	Juvenile myelomonocytic leukemia	5781	PTPN11	ORPHA:648
HP:0012209	Juvenile myelomonocytic leukemia	5781	PTPN11	OMIM:607785
HP:0012209	Juvenile myelomonocytic leukemia	5781	PTPN11	OMIM:163950
HP:0012209	Juvenile myelomonocytic leukemia	5922	RASA2	ORPHA:648
HP:0012209	Juvenile myelomonocytic leukemia	4763	NF1	OMIM:607785
HP:0012209	Juvenile myelomonocytic leukemia	23092	ARHGAP26	OMIM:607785
HP:0012209	Juvenile myelomonocytic leukemia	673	BRAF	OMIM:163950
HP:0012209	Juvenile myelomonocytic leukemia	5604	MAP2K1	OMIM:163950
HP:0012200	Abnormality of prothrombin	8328	GFI1B	OMIM:187900
HP:0012200	Abnormality of prothrombin	3155	HMGCL	ORPHA:20
HP:0012200	Abnormality of prothrombin	51594	NBAS	OMIM:616483
HP:0012200	Abnormality of prothrombin	55532	SLC30A10	ORPHA:309854
HP:0012200	Abnormality of prothrombin	2677	GGCX	OMIM:277450
HP:0012200	Abnormality of prothrombin	2677	GGCX	OMIM:610842
HP:0012200	Abnormality of prothrombin	132	ADK	OMIM:614300
HP:0012200	Abnormality of prothrombin	5009	OTC	OMIM:311250
HP:0012200	Abnormality of prothrombin	9420	CYP7B1	OMIM:613812
HP:0012200	Abnormality of prothrombin	23600	AMACR	OMIM:214950
HP:0012200	Abnormality of prothrombin	6718	AKR1D1	ORPHA:79303
HP:0012200	Abnormality of prothrombin	2158	F9	OMIM:306900
HP:0012200	Abnormality of prothrombin	5551	PRF1	OMIM:603553
HP:0012200	Abnormality of prothrombin	3998	LMAN1	ORPHA:35909
HP:0012200	Abnormality of prothrombin	90411	MCFD2	ORPHA:35909
HP:0012200	Abnormality of prothrombin	79631	EFL1	OMIM:617941
HP:0012200	Abnormality of prothrombin	3075	CFH	ORPHA:244242
HP:0012200	Abnormality of prothrombin	3426	CFI	ORPHA:244242
HP:0012200	Abnormality of prothrombin	4179	CD46	ORPHA:244242
HP:0012200	Abnormality of prothrombin	101101692	HELLPAR	ORPHA:244242
HP:0012200	Abnormality of prothrombin	2542	SLC37A4	OMIM:619525
HP:0012200	Abnormality of prothrombin	10165	SLC25A13	ORPHA:247598
HP:0012200	Abnormality of prothrombin	3033	HADH	ORPHA:71212
HP:0012200	Abnormality of prothrombin	5698	PSMB9	OMIM:620796
HP:0012200	Abnormality of prothrombin	55768	NGLY1	ORPHA:404454
HP:0012200	Abnormality of prothrombin	2159	F10	OMIM:227600
HP:0012200	Abnormality of prothrombin	2159	F10	ORPHA:328
HP:0012200	Abnormality of prothrombin	55687	TRMU	OMIM:613070
HP:0012200	Abnormality of prothrombin	60561	RINT1	OMIM:618641
HP:0012200	Abnormality of prothrombin	2153	F5	OMIM:227400
HP:0012200	Abnormality of prothrombin	2859	GPR35	ORPHA:171
HP:0012200	Abnormality of prothrombin	10507	SEMA4D	ORPHA:171
HP:0012200	Abnormality of prothrombin	4485	MST1	ORPHA:171
HP:0012200	Abnormality of prothrombin	6925	TCF4	ORPHA:171
HP:0012200	Abnormality of prothrombin	100131801	PET100	OMIM:619055
HP:0012200	Abnormality of prothrombin	125988	MICOS13	OMIM:618329
HP:0012200	Abnormality of prothrombin	4358	MPV17	OMIM:256810
HP:0012200	Abnormality of prothrombin	5236	PGM1	OMIM:614921
HP:0012200	Abnormality of prothrombin	3117	HLA-DQA1	OMIM:212750
HP:0012200	Abnormality of prothrombin	3119	HLA-DQB1	OMIM:212750
HP:0012200	Abnormality of prothrombin	2184	FAH	OMIM:276700
HP:0012200	Abnormality of prothrombin	10020	GNE	ORPHA:3166
HP:0012200	Abnormality of prothrombin	79087	ALG12	ORPHA:79324
HP:0012200	Abnormality of prothrombin	2155	F7	ORPHA:327
HP:0012200	Abnormality of prothrombin	4547	MTTP	ORPHA:14
HP:0012200	Abnormality of prothrombin	191	AHCY	ORPHA:88618
HP:0012200	Abnormality of prothrombin	81570	CLPB	OMIM:616271
HP:0012200	Abnormality of prothrombin	9971	NR1H4	OMIM:617049
HP:0012200	Abnormality of prothrombin	84342	COG8	ORPHA:95428
HP:0012200	Abnormality of prothrombin	6655	SOS2	OMIM:616559
HP:0012200	Abnormality of prothrombin	28976	ACAD9	ORPHA:99901
HP:0012200	Abnormality of prothrombin	5373	PMM2	OMIM:212065
HP:0012200	Abnormality of prothrombin	175	AGA	OMIM:208400
HP:0012200	Abnormality of prothrombin	7058	THBS2	OMIM:620865
HP:0012200	Abnormality of prothrombin	8985	PLOD3	OMIM:612394
HP:0012200	Abnormality of prothrombin	2147	F2	ORPHA:325
HP:0012200	Abnormality of prothrombin	79001	VKORC1	OMIM:607473
HP:0008151	Prolonged prothrombin time	3155	HMGCL	ORPHA:20
HP:0008151	Prolonged prothrombin time	51594	NBAS	OMIM:616483
HP:0008151	Prolonged prothrombin time	55532	SLC30A10	ORPHA:309854
HP:0008151	Prolonged prothrombin time	2677	GGCX	OMIM:277450
HP:0008151	Prolonged prothrombin time	2677	GGCX	OMIM:610842
HP:0008151	Prolonged prothrombin time	132	ADK	OMIM:614300
HP:0008151	Prolonged prothrombin time	5009	OTC	OMIM:311250
HP:0008151	Prolonged prothrombin time	9420	CYP7B1	OMIM:613812
HP:0008151	Prolonged prothrombin time	23600	AMACR	OMIM:214950
HP:0008151	Prolonged prothrombin time	6718	AKR1D1	ORPHA:79303
HP:0008151	Prolonged prothrombin time	2158	F9	OMIM:306900
HP:0008151	Prolonged prothrombin time	5551	PRF1	OMIM:603553
HP:0008151	Prolonged prothrombin time	3998	LMAN1	ORPHA:35909
HP:0008151	Prolonged prothrombin time	90411	MCFD2	ORPHA:35909
HP:0008151	Prolonged prothrombin time	79631	EFL1	OMIM:617941
HP:0008151	Prolonged prothrombin time	3075	CFH	ORPHA:244242
HP:0008151	Prolonged prothrombin time	3426	CFI	ORPHA:244242
HP:0008151	Prolonged prothrombin time	4179	CD46	ORPHA:244242
HP:0008151	Prolonged prothrombin time	101101692	HELLPAR	ORPHA:244242
HP:0008151	Prolonged prothrombin time	2542	SLC37A4	OMIM:619525
HP:0008151	Prolonged prothrombin time	10165	SLC25A13	ORPHA:247598
HP:0008151	Prolonged prothrombin time	3033	HADH	ORPHA:71212
HP:0008151	Prolonged prothrombin time	5698	PSMB9	OMIM:620796
HP:0008151	Prolonged prothrombin time	55768	NGLY1	ORPHA:404454
HP:0008151	Prolonged prothrombin time	2159	F10	OMIM:227600
HP:0008151	Prolonged prothrombin time	2159	F10	ORPHA:328
HP:0008151	Prolonged prothrombin time	55687	TRMU	OMIM:613070
HP:0008151	Prolonged prothrombin time	60561	RINT1	OMIM:618641
HP:0008151	Prolonged prothrombin time	2153	F5	OMIM:227400
HP:0008151	Prolonged prothrombin time	2859	GPR35	ORPHA:171
HP:0008151	Prolonged prothrombin time	10507	SEMA4D	ORPHA:171
HP:0008151	Prolonged prothrombin time	4485	MST1	ORPHA:171
HP:0008151	Prolonged prothrombin time	6925	TCF4	ORPHA:171
HP:0008151	Prolonged prothrombin time	100131801	PET100	OMIM:619055
HP:0008151	Prolonged prothrombin time	125988	MICOS13	OMIM:618329
HP:0008151	Prolonged prothrombin time	4358	MPV17	OMIM:256810
HP:0008151	Prolonged prothrombin time	5236	PGM1	OMIM:614921
HP:0008151	Prolonged prothrombin time	2147	F2	OMIM:613679
HP:0008151	Prolonged prothrombin time	2147	F2	ORPHA:325
HP:0008151	Prolonged prothrombin time	3117	HLA-DQA1	OMIM:212750
HP:0008151	Prolonged prothrombin time	3119	HLA-DQB1	OMIM:212750
HP:0008151	Prolonged prothrombin time	2184	FAH	OMIM:276700
HP:0008151	Prolonged prothrombin time	10020	GNE	ORPHA:3166
HP:0008151	Prolonged prothrombin time	79087	ALG12	ORPHA:79324
HP:0008151	Prolonged prothrombin time	2155	F7	ORPHA:327
HP:0008151	Prolonged prothrombin time	4547	MTTP	ORPHA:14
HP:0008151	Prolonged prothrombin time	191	AHCY	ORPHA:88618
HP:0008151	Prolonged prothrombin time	81570	CLPB	OMIM:616271
HP:0008151	Prolonged prothrombin time	9971	NR1H4	OMIM:617049
HP:0008151	Prolonged prothrombin time	84342	COG8	ORPHA:95428
HP:0008151	Prolonged prothrombin time	6655	SOS2	OMIM:616559
HP:0008151	Prolonged prothrombin time	28976	ACAD9	ORPHA:99901
HP:0008151	Prolonged prothrombin time	5373	PMM2	OMIM:212065
HP:0033040	Anti-Sm antibody positivity	713	C1QB	OMIM:620321
HP:0033040	Anti-Sm antibody positivity	4067	LYN	OMIM:620376
HP:0033040	Anti-Sm antibody positivity	2215	FCGR3B	ORPHA:536
HP:0033040	Anti-Sm antibody positivity	6775	STAT4	ORPHA:536
HP:0033040	Anti-Sm antibody positivity	3684	ITGAM	ORPHA:536
HP:0033040	Anti-Sm antibody positivity	3586	IL10	ORPHA:536
HP:0033040	Anti-Sm antibody positivity	221895	JAZF1	ORPHA:536
HP:0033040	Anti-Sm antibody positivity	11277	TREX1	ORPHA:536
HP:0033040	Anti-Sm antibody positivity	7292	TNFSF4	ORPHA:536
HP:0033040	Anti-Sm antibody positivity	640	BLK	ORPHA:536
HP:0033040	Anti-Sm antibody positivity	720	C4A	ORPHA:536
HP:0033040	Anti-Sm antibody positivity	55024	BANK1	ORPHA:536
HP:0033040	Anti-Sm antibody positivity	3500	IGHG1	ORPHA:536
HP:0033040	Anti-Sm antibody positivity	3654	IRAK1	ORPHA:536
HP:0033040	Anti-Sm antibody positivity	1493	CTLA4	ORPHA:536
HP:0033040	Anti-Sm antibody positivity	26191	PTPN22	ORPHA:536
HP:0033040	Anti-Sm antibody positivity	1380	CR2	ORPHA:536
HP:0033040	Anti-Sm antibody positivity	5133	PDCD1	ORPHA:536
HP:0033040	Anti-Sm antibody positivity	2113	ETS1	ORPHA:536
HP:0033040	Anti-Sm antibody positivity	2213	FCGR2B	ORPHA:536
HP:0033040	Anti-Sm antibody positivity	10318	TNIP1	ORPHA:536
HP:0033040	Anti-Sm antibody positivity	7332	UBE2L3	ORPHA:536
HP:0033040	Anti-Sm antibody positivity	79932	KIAA0319L	ORPHA:536
HP:0033040	Anti-Sm antibody positivity	4204	MECP2	ORPHA:536
HP:0033040	Anti-Sm antibody positivity	3663	IRF5	ORPHA:536
HP:0033040	Anti-Sm antibody positivity	3123	HLA-DRB1	ORPHA:536
HP:0033040	Anti-Sm antibody positivity	721	C4B	ORPHA:536
HP:0033040	Anti-Sm antibody positivity	1773	DNASE1	ORPHA:536
HP:0033040	Anti-Sm antibody positivity	51284	TLR7	ORPHA:536
HP:0033040	Anti-Sm antibody positivity	6696	SPP1	ORPHA:536
HP:0033040	Anti-Sm antibody positivity	54899	PXK	ORPHA:536
HP:0033040	Anti-Sm antibody positivity	7128	TNFAIP3	ORPHA:536
HP:0033044	Motor regression	128	ADH5	OMIM:619151
HP:0033044	Motor regression	51611	DPH5	OMIM:620070
HP:0033044	Motor regression	10128	LRPPRC	OMIM:220111
HP:0033044	Motor regression	27247	NFU1	OMIM:605711
HP:0033044	Motor regression	84265	POLR3GL	OMIM:619234
HP:0033044	Motor regression	79991	STN1	OMIM:617341
HP:0033044	Motor regression	55768	NGLY1	OMIM:615273
HP:0033044	Motor regression	122553	TRAPPC6B	OMIM:617862
HP:0033044	Motor regression	4700	NDUFA6	OMIM:618253
HP:0033044	Motor regression	51728	POLR3K	OMIM:619310
HP:0033044	Motor regression	6621	SNAPC4	OMIM:620515
HP:0033044	Motor regression	2058	EPRS1	OMIM:617951
HP:0033044	Motor regression	1355	COX15	OMIM:615119
HP:0033044	Motor regression	2720	GLB1	OMIM:230600
HP:0033044	Motor regression	3295	HSD17B4	OMIM:261515
HP:0033044	Motor regression	85465	SELENOI	OMIM:618768
HP:0033044	Motor regression	2055	CLN8	ORPHA:1947
HP:0033045	Bipedal edema	811	CALR	ORPHA:131
HP:0033045	Bipedal edema	3717	JAK2	ORPHA:131
HP:0033045	Bipedal edema	2153	F5	ORPHA:131
HP:0033047	Body ache	7486	WRN	OMIM:277700
HP:0033048	Substantia nigra hypointensity on susceptibility-weighted imaging	23446	SLC44A1	OMIM:618868
HP:0033048	Substantia nigra hypointensity on susceptibility-weighted imaging	54676	GTPBP2	OMIM:617988
HP:0033049	Globus pallidus hypointensity on susceptibility-weighted imaging	23446	SLC44A1	OMIM:618868
HP:0033049	Globus pallidus hypointensity on susceptibility-weighted imaging	9757	KMT2B	ORPHA:589618
HP:0033049	Globus pallidus hypointensity on susceptibility-weighted imaging	54676	GTPBP2	OMIM:617988
HP:0033049	Globus pallidus hypointensity on susceptibility-weighted imaging	64601	VPS16	OMIM:619291
HP:0012210	Abnormal renal morphology	23476	BRD4	ORPHA:199
HP:0012210	Abnormal renal morphology	8243	SMC1A	ORPHA:199
HP:0012210	Abnormal renal morphology	6878	TAF6	ORPHA:199
HP:0012210	Abnormal renal morphology	55869	HDAC8	ORPHA:199
HP:0012210	Abnormal renal morphology	5885	RAD21	ORPHA:199
HP:0012210	Abnormal renal morphology	9231	DLG5	OMIM:620703
HP:0012210	Abnormal renal morphology	9759	HDAC4	ORPHA:1001
HP:0012210	Abnormal renal morphology	10992	SF3B2	OMIM:164210
HP:0012210	Abnormal renal morphology	1131	CHRM3	ORPHA:2970
HP:0012210	Abnormal renal morphology	7473	WNT3	ORPHA:3301
HP:0012210	Abnormal renal morphology	340419	RSPO2	ORPHA:3301
HP:0012210	Abnormal renal morphology	9496	TBX4	ORPHA:3301
HP:0012210	Abnormal renal morphology	8405	SPOP	OMIM:618829
HP:0012210	Abnormal renal morphology	8204	NRIP1	OMIM:618270
HP:0012210	Abnormal renal morphology	11041	B4GAT1	OMIM:615287
HP:0012210	Abnormal renal morphology	23522	KAT6B	ORPHA:85201
HP:0012210	Abnormal renal morphology	23522	KAT6B	OMIM:606170
HP:0012210	Abnormal renal morphology	57466	SCAF4	OMIM:620511
HP:0012210	Abnormal renal morphology	25802	LMOD1	ORPHA:2241
HP:0012210	Abnormal renal morphology	4629	MYH11	ORPHA:2241
HP:0012210	Abnormal renal morphology	72	ACTG2	ORPHA:2241
HP:0012210	Abnormal renal morphology	4638	MYLK	ORPHA:2241
HP:0012210	Abnormal renal morphology	151188	ARL6IP6	ORPHA:1556
HP:0012210	Abnormal renal morphology	139285	AMER1	OMIM:300373
HP:0012210	Abnormal renal morphology	3978	LIG1	OMIM:619774
HP:0012210	Abnormal renal morphology	64359	NXN	ORPHA:1507
HP:0012210	Abnormal renal morphology	27077	B9D1	OMIM:614209
HP:0012210	Abnormal renal morphology	27077	B9D1	ORPHA:564
HP:0012210	Abnormal renal morphology	3239	HOXD13	ORPHA:887
HP:0012210	Abnormal renal morphology	84314	TMEM107	ORPHA:564
HP:0012210	Abnormal renal morphology	79600	TCTN1	ORPHA:564
HP:0012210	Abnormal renal morphology	57096	RPGRIP1	ORPHA:564
HP:0012210	Abnormal renal morphology	79770	TXNDC15	ORPHA:564
HP:0012210	Abnormal renal morphology	54903	MKS1	ORPHA:564
HP:0012210	Abnormal renal morphology	25970	SH2B1	ORPHA:261197
HP:0012210	Abnormal renal morphology	9184	BUB3	ORPHA:1052
HP:0012210	Abnormal renal morphology	699	BUB1	ORPHA:1052
HP:0012210	Abnormal renal morphology	9702	CEP57	ORPHA:1052
HP:0012210	Abnormal renal morphology	55670	PEX26	ORPHA:912
HP:0012210	Abnormal renal morphology	5824	PEX19	ORPHA:912
HP:0012210	Abnormal renal morphology	8799	PEX11B	ORPHA:912
HP:0012210	Abnormal renal morphology	9409	PEX16	ORPHA:912
HP:0012210	Abnormal renal morphology	5830	PEX5	ORPHA:912
HP:0012210	Abnormal renal morphology	5193	PEX12	ORPHA:912
HP:0012210	Abnormal renal morphology	5195	PEX14	ORPHA:912
HP:0012210	Abnormal renal morphology	2313	FLI1	ORPHA:2308
HP:0012210	Abnormal renal morphology	3655	ITGA6	ORPHA:79403
HP:0012210	Abnormal renal morphology	3691	ITGB4	ORPHA:79403
HP:0012210	Abnormal renal morphology	3691	ITGB4	ORPHA:158684
HP:0012210	Abnormal renal morphology	80781	COL18A1	OMIM:267750
HP:0012210	Abnormal renal morphology	9839	ZEB2	ORPHA:261537
HP:0012210	Abnormal renal morphology	9839	ZEB2	ORPHA:261552
HP:0012210	Abnormal renal morphology	4920	ROR2	OMIM:268310
HP:0012210	Abnormal renal morphology	284058	KANSL1	ORPHA:363965
HP:0012210	Abnormal renal morphology	284058	KANSL1	ORPHA:363958
HP:0012210	Abnormal renal morphology	5339	PLEC	ORPHA:158684
HP:0012210	Abnormal renal morphology	6804	STX1A	ORPHA:904
HP:0012210	Abnormal renal morphology	7461	CLIP2	ORPHA:904
HP:0012210	Abnormal renal morphology	84277	DNAJC30	ORPHA:904
HP:0012210	Abnormal renal morphology	8468	FKBP6	ORPHA:904
HP:0012210	Abnormal renal morphology	5982	RFC2	ORPHA:904
HP:0012210	Abnormal renal morphology	2969	GTF2I	ORPHA:904
HP:0012210	Abnormal renal morphology	3984	LIMK1	ORPHA:904
HP:0012210	Abnormal renal morphology	9569	GTF2IRD1	ORPHA:904
HP:0012210	Abnormal renal morphology	155382	VPS37D	ORPHA:904
HP:0012210	Abnormal renal morphology	155368	METTL27	ORPHA:904
HP:0012210	Abnormal renal morphology	114049	BUD23	ORPHA:904
HP:0012210	Abnormal renal morphology	7458	EIF4H	ORPHA:904
HP:0012210	Abnormal renal morphology	84163	GTF2IRD2	ORPHA:904
HP:0012210	Abnormal renal morphology	26608	TBL2	ORPHA:904
HP:0012210	Abnormal renal morphology	653361	NCF1	ORPHA:904
HP:0012210	Abnormal renal morphology	135886	TMEM270	ORPHA:904
HP:0012210	Abnormal renal morphology	9031	BAZ1B	ORPHA:904
HP:0012210	Abnormal renal morphology	145173	B3GLCT	ORPHA:709
HP:0012210	Abnormal renal morphology	2303	FOXC2	ORPHA:33001
HP:0012210	Abnormal renal morphology	6231	RPS26	OMIM:613309
HP:0012210	Abnormal renal morphology	7474	WNT5A	OMIM:180700
HP:0012210	Abnormal renal morphology	1855	DVL1	OMIM:180700
HP:0012210	Abnormal renal morphology	8085	KMT2D	OMIM:147920
HP:0012210	Abnormal renal morphology	7403	KDM6A	OMIM:147920
HP:0012210	Abnormal renal morphology	10653	SPINT2	OMIM:270420
HP:0012210	Abnormal renal morphology	8036	SHOC2	OMIM:607721
HP:0012210	Abnormal renal morphology	3376	IARS1	OMIM:617093
HP:0012210	Abnormal renal morphology	3376	IARS1	ORPHA:541423
HP:0012210	Abnormal renal morphology	23126	POGZ	OMIM:616364
HP:0012210	Abnormal renal morphology	23126	POGZ	ORPHA:468678
HP:0012210	Abnormal renal morphology	9487	PIGL	OMIM:280000
HP:0012210	Abnormal renal morphology	9894	TELO2	ORPHA:488642
HP:0012210	Abnormal renal morphology	55593	OTUD5	OMIM:301056
HP:0012210	Abnormal renal morphology	5700	PSMC1	OMIM:620071
HP:0012210	Abnormal renal morphology	5594	MAPK1	OMIM:619087
HP:0012210	Abnormal renal morphology	5277	PIGA	OMIM:300868
HP:0012210	Abnormal renal morphology	7148	TNXB	OMIM:615963
HP:0012210	Abnormal renal morphology	6309	SC5D	ORPHA:46059
HP:0012210	Abnormal renal morphology	6309	SC5D	OMIM:607330
HP:0012210	Abnormal renal morphology	10054	UBA2	OMIM:619959
HP:0012210	Abnormal renal morphology	6650	CAPN15	OMIM:619318
HP:0012210	Abnormal renal morphology	253738	EBF3	ORPHA:96148
HP:0012210	Abnormal renal morphology	10274	STAG1	ORPHA:502434
HP:0012210	Abnormal renal morphology	1736	DKC1	OMIM:305000
HP:0012210	Abnormal renal morphology	27125	AFF4	ORPHA:444077
HP:0012210	Abnormal renal morphology	27125	AFF4	OMIM:616368
HP:0012210	Abnormal renal morphology	29998	BICRA	OMIM:619325
HP:0012210	Abnormal renal morphology	65993	MRPS34	OMIM:617664
HP:0012210	Abnormal renal morphology	83479	DDX59	OMIM:174300
HP:0012210	Abnormal renal morphology	9723	SEMA3E	ORPHA:138
HP:0012210	Abnormal renal morphology	10584	COLEC10	OMIM:248340
HP:0012210	Abnormal renal morphology	6597	SMARCA4	ORPHA:1465
HP:0012210	Abnormal renal morphology	6598	SMARCB1	ORPHA:1465
HP:0012210	Abnormal renal morphology	6659	SOX4	ORPHA:1465
HP:0012210	Abnormal renal morphology	8289	ARID1A	ORPHA:1465
HP:0012210	Abnormal renal morphology	5977	DPF2	ORPHA:1465
HP:0012210	Abnormal renal morphology	6601	SMARCC2	ORPHA:1465
HP:0012210	Abnormal renal morphology	6602	SMARCD1	ORPHA:1465
HP:0012210	Abnormal renal morphology	196528	ARID2	ORPHA:1465
HP:0012210	Abnormal renal morphology	6605	SMARCE1	ORPHA:1465
HP:0012210	Abnormal renal morphology	1147	CHUK	OMIM:613630
HP:0012210	Abnormal renal morphology	64093	SMOC1	ORPHA:1106
HP:0012210	Abnormal renal morphology	7319	UBE2A	OMIM:300860
HP:0012210	Abnormal renal morphology	10524	KAT5	OMIM:619103
HP:0012210	Abnormal renal morphology	6885	MAP3K7	OMIM:157800
HP:0012210	Abnormal renal morphology	8241	RBM10	OMIM:311900
HP:0012210	Abnormal renal morphology	8241	RBM10	ORPHA:2886
HP:0012210	Abnormal renal morphology	3192	HNRNPU	ORPHA:238769
HP:0012210	Abnormal renal morphology	9508	ADAMTS3	ORPHA:2136
HP:0012210	Abnormal renal morphology	147372	CCBE1	ORPHA:2136
HP:0012210	Abnormal renal morphology	147372	CCBE1	OMIM:235510
HP:0012210	Abnormal renal morphology	3265	HRAS	OMIM:163200
HP:0012210	Abnormal renal morphology	79228	THOC6	ORPHA:363444
HP:0012210	Abnormal renal morphology	79228	THOC6	OMIM:613680
HP:0012210	Abnormal renal morphology	78989	COLEC11	OMIM:265050
HP:0012210	Abnormal renal morphology	3110	MNX1	ORPHA:1552
HP:0012210	Abnormal renal morphology	3110	MNX1	OMIM:176450
HP:0012210	Abnormal renal morphology	3187	HNRNPH1	OMIM:620083
HP:0012210	Abnormal renal morphology	6748	SSR4	ORPHA:370927
HP:0012210	Abnormal renal morphology	6736	SRY	ORPHA:1772
HP:0012210	Abnormal renal morphology	1642	DDB1	OMIM:619426
HP:0012210	Abnormal renal morphology	5910	RAP1GDS1	OMIM:620655
HP:0012210	Abnormal renal morphology	1123	CHN1	ORPHA:233
HP:0012210	Abnormal renal morphology	6611	SMS	ORPHA:3063
HP:0012210	Abnormal renal morphology	5932	RBBP8	OMIM:606744
HP:0012210	Abnormal renal morphology	23384	SPECC1L	ORPHA:1519
HP:0012210	Abnormal renal morphology	1763	DNA2	OMIM:615807
HP:0012210	Abnormal renal morphology	90417	KNSTRN	OMIM:613328
HP:0012210	Abnormal renal morphology	5293	PIK3CD	OMIM:613328
HP:0012210	Abnormal renal morphology	11005	SPINK5	ORPHA:634
HP:0012210	Abnormal renal morphology	1161	ERCC8	ORPHA:90324
HP:0012210	Abnormal renal morphology	2074	ERCC6	ORPHA:90324
HP:0012210	Abnormal renal morphology	4774	NFIA	OMIM:613735
HP:0012210	Abnormal renal morphology	4838	NODAL	OMIM:270100
HP:0012210	Abnormal renal morphology	23498	HAAO	OMIM:617660
HP:0012210	Abnormal renal morphology	8942	KYNU	OMIM:617661
HP:0012210	Abnormal renal morphology	8882	ZPR1	OMIM:619321
HP:0012210	Abnormal renal morphology	3313	HSPA9	OMIM:616854
HP:0012210	Abnormal renal morphology	23291	FBXW11	OMIM:618914
HP:0012210	Abnormal renal morphology	23524	SRRM2	OMIM:620439
HP:0012210	Abnormal renal morphology	6092	ROBO2	OMIM:610878
HP:0012210	Abnormal renal morphology	6926	TBX3	ORPHA:3138
HP:0012210	Abnormal renal morphology	84987	COX14	OMIM:619053
HP:0012210	Abnormal renal morphology	57492	ARID1B	OMIM:135900
HP:0012210	Abnormal renal morphology	4509	MT-ATP8	ORPHA:254913
HP:0012210	Abnormal renal morphology	514	ATP5F1E	ORPHA:254913
HP:0012210	Abnormal renal morphology	513	ATP5F1D	ORPHA:254913
HP:0012210	Abnormal renal morphology	498	ATP5F1A	ORPHA:254913
HP:0012210	Abnormal renal morphology	4508	MT-ATP6	ORPHA:254913
HP:0012210	Abnormal renal morphology	84833	ATP5MK	ORPHA:254913
HP:0012210	Abnormal renal morphology	91647	ATPAF2	ORPHA:254913
HP:0012210	Abnormal renal morphology	91647	ATPAF2	OMIM:604273
HP:0012210	Abnormal renal morphology	3899	AFF3	OMIM:619297
HP:0012210	Abnormal renal morphology	54496	PRMT7	OMIM:617157
HP:0012210	Abnormal renal morphology	54496	PRMT7	ORPHA:464288
HP:0012210	Abnormal renal morphology	54567	DLL4	OMIM:616589
HP:0012210	Abnormal renal morphology	25778	DSTYK	OMIM:610805
HP:0012210	Abnormal renal morphology	652	BMP4	OMIM:607932
HP:0012210	Abnormal renal morphology	8091	HMGA2	ORPHA:94063
HP:0012210	Abnormal renal morphology	23592	LEMD3	ORPHA:94063
HP:0012210	Abnormal renal morphology	1822	ATN1	OMIM:618494
HP:0012210	Abnormal renal morphology	55636	CHD7	OMIM:214800
HP:0012210	Abnormal renal morphology	79633	FAT4	OMIM:615546
HP:0012210	Abnormal renal morphology	79633	FAT4	ORPHA:314679
HP:0012210	Abnormal renal morphology	8642	DCHS1	OMIM:601390
HP:0012210	Abnormal renal morphology	8642	DCHS1	ORPHA:314679
HP:0012210	Abnormal renal morphology	5972	REN	OMIM:613092
HP:0012210	Abnormal renal morphology	8364	H4C3	OMIM:619758
HP:0012210	Abnormal renal morphology	10907	TXNL4A	OMIM:608572
HP:0012210	Abnormal renal morphology	9928	KIF14	OMIM:616258
HP:0012210	Abnormal renal morphology	9928	KIF14	OMIM:617914
HP:0012210	Abnormal renal morphology	3708	ITPR1	OMIM:117360
HP:0012210	Abnormal renal morphology	2261	FGFR3	ORPHA:2363
HP:0012210	Abnormal renal morphology	2255	FGF10	ORPHA:2363
HP:0012210	Abnormal renal morphology	84919	PPP1R15B	OMIM:616817
HP:0012210	Abnormal renal morphology	10084	PQBP1	OMIM:309500
HP:0012210	Abnormal renal morphology	7477	WNT7B	ORPHA:2470
HP:0012210	Abnormal renal morphology	5915	RARB	ORPHA:2470
HP:0012210	Abnormal renal morphology	7518	XRCC4	OMIM:616541
HP:0012210	Abnormal renal morphology	4193	MDM2	OMIM:618681
HP:0012210	Abnormal renal morphology	10463	SLC30A9	OMIM:617595
HP:0012210	Abnormal renal morphology	546	ATRX	OMIM:309580
HP:0012210	Abnormal renal morphology	5557	PRIM1	OMIM:620005
HP:0012210	Abnormal renal morphology	6223	RPS19	OMIM:105650
HP:0012210	Abnormal renal morphology	57728	WDR19	OMIM:614376
HP:0012210	Abnormal renal morphology	57728	WDR19	OMIM:614377
HP:0012210	Abnormal renal morphology	4654	MYOD1	OMIM:618975
HP:0012210	Abnormal renal morphology	5908	RAP1B	OMIM:620654
HP:0012210	Abnormal renal morphology	27152	INTU	OMIM:617926
HP:0012210	Abnormal renal morphology	3762	KCNJ5	ORPHA:37553
HP:0012210	Abnormal renal morphology	3759	KCNJ2	ORPHA:37553
HP:0012210	Abnormal renal morphology	79809	TTC21B	ORPHA:474
HP:0012210	Abnormal renal morphology	79809	TTC21B	OMIM:613820
HP:0012210	Abnormal renal morphology	95681	CEP41	OMIM:614464
HP:0012210	Abnormal renal morphology	22897	CEP164	OMIM:614845
HP:0012210	Abnormal renal morphology	22897	CEP164	ORPHA:3156
HP:0012210	Abnormal renal morphology	84662	GLIS2	OMIM:611498
HP:0012210	Abnormal renal morphology	26146	TRAF3IP1	OMIM:616629
HP:0012210	Abnormal renal morphology	26146	TRAF3IP1	ORPHA:3156
HP:0012210	Abnormal renal morphology	54806	AHI1	OMIM:608629
HP:0012210	Abnormal renal morphology	51134	CEP83	OMIM:615862
HP:0012210	Abnormal renal morphology	9657	IQCB1	ORPHA:3156
HP:0012210	Abnormal renal morphology	9657	IQCB1	OMIM:609254
HP:0012210	Abnormal renal morphology	56945	MRPS22	OMIM:611719
HP:0012210	Abnormal renal morphology	4535	MT-ND1	ORPHA:255210
HP:0012210	Abnormal renal morphology	4536	MT-ND2	ORPHA:255210
HP:0012210	Abnormal renal morphology	4537	MT-ND3	ORPHA:255210
HP:0012210	Abnormal renal morphology	4538	MT-ND4	ORPHA:255210
HP:0012210	Abnormal renal morphology	4567	MT-TL1	ORPHA:255210
HP:0012210	Abnormal renal morphology	4578	MT-TW	ORPHA:255210
HP:0012210	Abnormal renal morphology	4577	MT-TV	ORPHA:255210
HP:0012210	Abnormal renal morphology	4540	MT-ND5	ORPHA:255210
HP:0012210	Abnormal renal morphology	4541	MT-ND6	ORPHA:255210
HP:0012210	Abnormal renal morphology	4566	MT-TK	ORPHA:255210
HP:0012210	Abnormal renal morphology	4868	NPHS1	ORPHA:839
HP:0012210	Abnormal renal morphology	23729	SHPK	ORPHA:440713
HP:0012210	Abnormal renal morphology	2717	GLA	ORPHA:324
HP:0012210	Abnormal renal morphology	57122	NUP107	OMIM:618348
HP:0012210	Abnormal renal morphology	57122	NUP107	OMIM:616730
HP:0012210	Abnormal renal morphology	55746	NUP133	OMIM:618349
HP:0012210	Abnormal renal morphology	3675	ITGA3	OMIM:614748
HP:0012210	Abnormal renal morphology	4643	MYO1E	OMIM:614131
HP:0012210	Abnormal renal morphology	54345	SOX18	OMIM:137940
HP:0012210	Abnormal renal morphology	8518	ELP1	OMIM:223900
HP:0012210	Abnormal renal morphology	27235	COQ2	OMIM:607426
HP:0012210	Abnormal renal morphology	11277	TREX1	ORPHA:247691
HP:0012210	Abnormal renal morphology	79934	COQ8B	OMIM:615573
HP:0012210	Abnormal renal morphology	9722	NOS1AP	OMIM:619155
HP:0012210	Abnormal renal morphology	1743	DLST	ORPHA:29072
HP:0012210	Abnormal renal morphology	4191	MDH2	ORPHA:29072
HP:0012210	Abnormal renal morphology	6389	SDHA	ORPHA:29072
HP:0012210	Abnormal renal morphology	23095	KIF1B	ORPHA:29072
HP:0012210	Abnormal renal morphology	8402	SLC25A11	ORPHA:29072
HP:0012210	Abnormal renal morphology	54949	SDHAF2	ORPHA:29072
HP:0012210	Abnormal renal morphology	55654	TMEM127	ORPHA:29072
HP:0012210	Abnormal renal morphology	6391	SDHC	ORPHA:29072
HP:0012210	Abnormal renal morphology	6392	SDHD	ORPHA:29072
HP:0012210	Abnormal renal morphology	6392	SDHD	ORPHA:276621
HP:0012210	Abnormal renal morphology	6390	SDHB	ORPHA:29072
HP:0012210	Abnormal renal morphology	6390	SDHB	ORPHA:276621
HP:0012210	Abnormal renal morphology	1788	DNMT3A	ORPHA:276621
HP:0012210	Abnormal renal morphology	2034	EPAS1	ORPHA:276621
HP:0012210	Abnormal renal morphology	55644	OSGEP	OMIM:617729
HP:0012210	Abnormal renal morphology	7225	TRPC6	OMIM:603965
HP:0012210	Abnormal renal morphology	7225	TRPC6	ORPHA:656
HP:0012210	Abnormal renal morphology	4558	MT-TF	ORPHA:550
HP:0012210	Abnormal renal morphology	4572	MT-TQ	ORPHA:550
HP:0012210	Abnormal renal morphology	4512	MT-CO1	ORPHA:550
HP:0012210	Abnormal renal morphology	4513	MT-CO2	ORPHA:550
HP:0012210	Abnormal renal morphology	4514	MT-CO3	ORPHA:550
HP:0012210	Abnormal renal morphology	4574	MT-TS1	ORPHA:550
HP:0012210	Abnormal renal morphology	4575	MT-TS2	ORPHA:550
HP:0012210	Abnormal renal morphology	4564	MT-TH	ORPHA:550
HP:0012210	Abnormal renal morphology	112858	TP53RK	OMIM:617730
HP:0012210	Abnormal renal morphology	8879	SGPL1	OMIM:617575
HP:0012210	Abnormal renal morphology	8270	LAGE3	OMIM:301006
HP:0012210	Abnormal renal morphology	51002	TPRKB	OMIM:617731
HP:0012210	Abnormal renal morphology	10785	WDR4	OMIM:618347
HP:0012210	Abnormal renal morphology	55505	NOP10	OMIM:620425
HP:0012210	Abnormal renal morphology	84942	WDR73	OMIM:251300
HP:0012210	Abnormal renal morphology	23607	CD2AP	OMIM:607832
HP:0012210	Abnormal renal morphology	23607	CD2AP	ORPHA:656
HP:0012210	Abnormal renal morphology	55243	KIRREL1	OMIM:619201
HP:0012210	Abnormal renal morphology	10651	MTX2	OMIM:619127
HP:0012210	Abnormal renal morphology	23165	NUP205	OMIM:616893
HP:0012210	Abnormal renal morphology	23165	NUP205	ORPHA:656
HP:0012210	Abnormal renal morphology	9688	NUP93	OMIM:616892
HP:0012210	Abnormal renal morphology	9688	NUP93	ORPHA:656
HP:0012210	Abnormal renal morphology	50485	SMARCAL1	ORPHA:1830
HP:0012210	Abnormal renal morphology	50485	SMARCAL1	OMIM:242900
HP:0012210	Abnormal renal morphology	84520	GON7	OMIM:619603
HP:0012210	Abnormal renal morphology	64423	INF2	ORPHA:656
HP:0012210	Abnormal renal morphology	64423	INF2	OMIM:613237
HP:0012210	Abnormal renal morphology	64423	INF2	OMIM:614455
HP:0012210	Abnormal renal morphology	26130	GAPVD1	ORPHA:656
HP:0012210	Abnormal renal morphology	51479	ANKFY1	ORPHA:656
HP:0012210	Abnormal renal morphology	54443	ANLN	ORPHA:656
HP:0012210	Abnormal renal morphology	54443	ANLN	OMIM:616032
HP:0012210	Abnormal renal morphology	2013	EMP2	ORPHA:656
HP:0012210	Abnormal renal morphology	51196	PLCE1	ORPHA:656
HP:0012210	Abnormal renal morphology	51196	PLCE1	OMIM:610725
HP:0012210	Abnormal renal morphology	79902	NUP85	ORPHA:656
HP:0012210	Abnormal renal morphology	79902	NUP85	OMIM:618176
HP:0012210	Abnormal renal morphology	396	ARHGDIA	ORPHA:656
HP:0012210	Abnormal renal morphology	23279	NUP160	ORPHA:656
HP:0012210	Abnormal renal morphology	23279	NUP160	OMIM:618178
HP:0012210	Abnormal renal morphology	9863	MAGI2	ORPHA:656
HP:0012210	Abnormal renal morphology	8542	APOL1	ORPHA:656
HP:0012210	Abnormal renal morphology	8542	APOL1	OMIM:612551
HP:0012210	Abnormal renal morphology	54885	TBC1D8B	ORPHA:656
HP:0012210	Abnormal renal morphology	54885	TBC1D8B	OMIM:301028
HP:0012210	Abnormal renal morphology	7827	NPHS2	ORPHA:656
HP:0012210	Abnormal renal morphology	7827	NPHS2	OMIM:600995
HP:0012210	Abnormal renal morphology	83478	ARHGAP24	ORPHA:656
HP:0012210	Abnormal renal morphology	3911	LAMA5	OMIM:620049
HP:0012210	Abnormal renal morphology	79731	NARS2	OMIM:616239
HP:0012210	Abnormal renal morphology	355	FAS	ORPHA:3261
HP:0012210	Abnormal renal morphology	355	FAS	ORPHA:117
HP:0012210	Abnormal renal morphology	356	FASLG	ORPHA:3261
HP:0012210	Abnormal renal morphology	843	CASP10	ORPHA:3261
HP:0012210	Abnormal renal morphology	144811	LACC1	ORPHA:85414
HP:0012210	Abnormal renal morphology	3569	IL6	ORPHA:85414
HP:0012210	Abnormal renal morphology	720	C4A	OMIM:614380
HP:0012210	Abnormal renal morphology	720	C4A	ORPHA:117
HP:0012210	Abnormal renal morphology	8651	SOCS1	OMIM:619375
HP:0012210	Abnormal renal morphology	3426	CFI	OMIM:610984
HP:0012210	Abnormal renal morphology	81494	CFHR5	OMIM:614809
HP:0012210	Abnormal renal morphology	4010	LMX1B	OMIM:161200
HP:0012210	Abnormal renal morphology	4311	MME	ORPHA:69063
HP:0012210	Abnormal renal morphology	6892	TAPBP	OMIM:620814
HP:0012210	Abnormal renal morphology	149233	IL23R	ORPHA:117
HP:0012210	Abnormal renal morphology	6775	STAT4	ORPHA:117
HP:0012210	Abnormal renal morphology	3586	IL10	ORPHA:117
HP:0012210	Abnormal renal morphology	1230	CCR1	ORPHA:117
HP:0012210	Abnormal renal morphology	3592	IL12A	ORPHA:117
HP:0012210	Abnormal renal morphology	101928376	IL12A-AS1	ORPHA:117
HP:0012210	Abnormal renal morphology	3106	HLA-B	ORPHA:117
HP:0012210	Abnormal renal morphology	7099	TLR4	ORPHA:117
HP:0012210	Abnormal renal morphology	3459	IFNGR1	ORPHA:117
HP:0012210	Abnormal renal morphology	337867	UBAC2	ORPHA:117
HP:0012210	Abnormal renal morphology	51752	ERAP1	ORPHA:117
HP:0012210	Abnormal renal morphology	8302	KLRC4	ORPHA:117
HP:0012210	Abnormal renal morphology	11113	CIT	OMIM:617090
HP:0012210	Abnormal renal morphology	158326	FREM1	ORPHA:217266
HP:0012210	Abnormal renal morphology	158326	FREM1	OMIM:608980
HP:0012210	Abnormal renal morphology	5979	RET	ORPHA:1848
HP:0012210	Abnormal renal morphology	26281	FGF20	ORPHA:1848
HP:0012210	Abnormal renal morphology	2674	GFRA1	ORPHA:1848
HP:0012210	Abnormal renal morphology	7484	WNT9B	ORPHA:1848
HP:0012210	Abnormal renal morphology	81839	VANGL1	ORPHA:3027
HP:0012210	Abnormal renal morphology	80199	FUZ	ORPHA:3027
HP:0012210	Abnormal renal morphology	64324	NSD1	ORPHA:821
HP:0012210	Abnormal renal morphology	10297	APC2	ORPHA:821
HP:0012210	Abnormal renal morphology	7750	ZMYM2	OMIM:619522
HP:0012210	Abnormal renal morphology	92002	CCNQ	ORPHA:140952
HP:0012210	Abnormal renal morphology	4149	MAX	OMIM:620712
HP:0012210	Abnormal renal morphology	79971	WLS	OMIM:619648
HP:0012210	Abnormal renal morphology	2260	FGFR1	ORPHA:280200
HP:0012210	Abnormal renal morphology	2260	FGFR1	ORPHA:478
HP:0012210	Abnormal renal morphology	28514	DLL1	ORPHA:280200
HP:0012210	Abnormal renal morphology	2253	FGF8	ORPHA:280200
HP:0012210	Abnormal renal morphology	2253	FGF8	ORPHA:478
HP:0012210	Abnormal renal morphology	6496	SIX3	ORPHA:280200
HP:0012210	Abnormal renal morphology	7050	TGIF1	ORPHA:280200
HP:0012210	Abnormal renal morphology	6469	SHH	ORPHA:280200
HP:0012210	Abnormal renal morphology	51684	SUFU	ORPHA:280200
HP:0012210	Abnormal renal morphology	7546	ZIC2	ORPHA:280200
HP:0012210	Abnormal renal morphology	2619	GAS1	ORPHA:280200
HP:0012210	Abnormal renal morphology	84976	DISP1	ORPHA:280200
HP:0012210	Abnormal renal morphology	2736	GLI2	ORPHA:280200
HP:0012210	Abnormal renal morphology	8928	FOXH1	ORPHA:280200
HP:0012210	Abnormal renal morphology	6997	CRIPTO	ORPHA:280200
HP:0012210	Abnormal renal morphology	5727	PTCH1	ORPHA:280200
HP:0012210	Abnormal renal morphology	50937	CDON	ORPHA:280200
HP:0012210	Abnormal renal morphology	6138	RPL15	ORPHA:124
HP:0012210	Abnormal renal morphology	6224	RPS20	ORPHA:124
HP:0012210	Abnormal renal morphology	6165	RPL35A	ORPHA:124
HP:0012210	Abnormal renal morphology	6132	RPL8	ORPHA:124
HP:0012210	Abnormal renal morphology	6232	RPS27	ORPHA:124
HP:0012210	Abnormal renal morphology	55027	HEATR3	ORPHA:124
HP:0012210	Abnormal renal morphology	6160	RPL31	ORPHA:124
HP:0012210	Abnormal renal morphology	6201	RPS7	ORPHA:124
HP:0012210	Abnormal renal morphology	6155	RPL27	ORPHA:124
HP:0012210	Abnormal renal morphology	6234	RPS28	ORPHA:124
HP:0012210	Abnormal renal morphology	6135	RPL11	ORPHA:124
HP:0012210	Abnormal renal morphology	6229	RPS24	ORPHA:124
HP:0012210	Abnormal renal morphology	6125	RPL5	ORPHA:124
HP:0012210	Abnormal renal morphology	6204	RPS10	ORPHA:124
HP:0012210	Abnormal renal morphology	2623	GATA1	ORPHA:124
HP:0012210	Abnormal renal morphology	6133	RPL9	ORPHA:124
HP:0012210	Abnormal renal morphology	11224	RPL35	ORPHA:124
HP:0012210	Abnormal renal morphology	6218	RPS17	ORPHA:124
HP:0012210	Abnormal renal morphology	6154	RPL26	ORPHA:124
HP:0012210	Abnormal renal morphology	6210	RPS15A	ORPHA:124
HP:0012210	Abnormal renal morphology	90121	TSR2	ORPHA:124
HP:0012210	Abnormal renal morphology	6141	RPL18	ORPHA:124
HP:0012210	Abnormal renal morphology	6235	RPS29	ORPHA:124
HP:0012210	Abnormal renal morphology	51816	ADA2	ORPHA:124
HP:0012210	Abnormal renal morphology	51729	WBP11	OMIM:619227
HP:0012210	Abnormal renal morphology	3640	INSL3	OMIM:219050
HP:0012210	Abnormal renal morphology	10371	SEMA3A	ORPHA:478
HP:0012210	Abnormal renal morphology	81848	SPRY4	ORPHA:478
HP:0012210	Abnormal renal morphology	23767	FLRT3	ORPHA:478
HP:0012210	Abnormal renal morphology	128674	PROKR2	ORPHA:478
HP:0012210	Abnormal renal morphology	79625	NDNF	ORPHA:478
HP:0012210	Abnormal renal morphology	389549	FEZF1	ORPHA:478
HP:0012210	Abnormal renal morphology	1630	DCC	ORPHA:478
HP:0012210	Abnormal renal morphology	3730	ANOS1	ORPHA:478
HP:0012210	Abnormal renal morphology	54756	IL17RD	ORPHA:478
HP:0012210	Abnormal renal morphology	6663	SOX10	ORPHA:478
HP:0012210	Abnormal renal morphology	285025	CCDC141	ORPHA:478
HP:0012210	Abnormal renal morphology	60675	PROK2	ORPHA:478
HP:0012210	Abnormal renal morphology	1848	DUSP6	ORPHA:478
HP:0012210	Abnormal renal morphology	6870	TACR3	ORPHA:478
HP:0012210	Abnormal renal morphology	55717	WDR11	ORPHA:478
HP:0012210	Abnormal renal morphology	9394	HS6ST1	ORPHA:478
HP:0012210	Abnormal renal morphology	8820	HESX1	ORPHA:478
HP:0012210	Abnormal renal morphology	8822	FGF17	ORPHA:478
HP:0012210	Abnormal renal morphology	26227	PHGDH	OMIM:256520
HP:0012210	Abnormal renal morphology	5290	PIK3CA	ORPHA:276280
HP:0012210	Abnormal renal morphology	7490	WT1	OMIM:608978
HP:0012210	Abnormal renal morphology	7490	WT1	OMIM:194080
HP:0012210	Abnormal renal morphology	79659	DYNC2H1	OMIM:613091
HP:0012210	Abnormal renal morphology	51422	PRKAG2	OMIM:261740
HP:0012210	Abnormal renal morphology	9158	FIBP	ORPHA:500095
HP:0012210	Abnormal renal morphology	5314	PKHD1	OMIM:263200
HP:0012210	Abnormal renal morphology	5314	PKHD1	ORPHA:731
HP:0012210	Abnormal renal morphology	55503	TRPV6	OMIM:618188
HP:0012210	Abnormal renal morphology	975	CD81	OMIM:613496
HP:0012210	Abnormal renal morphology	284086	NEK8	OMIM:620903
HP:0012210	Abnormal renal morphology	284086	NEK8	OMIM:615415
HP:0012210	Abnormal renal morphology	199221	DZIP1L	OMIM:617610
HP:0012210	Abnormal renal morphology	199221	DZIP1L	ORPHA:731
HP:0012210	Abnormal renal morphology	23394	ADNP	OMIM:615873
HP:0012210	Abnormal renal morphology	3643	INSR	ORPHA:508
HP:0012210	Abnormal renal morphology	3643	INSR	OMIM:246200
HP:0012210	Abnormal renal morphology	2542	SLC37A4	OMIM:232220
HP:0012210	Abnormal renal morphology	2542	SLC37A4	ORPHA:79259
HP:0012210	Abnormal renal morphology	207	AKT1	ORPHA:744
HP:0012210	Abnormal renal morphology	79796	ALG9	ORPHA:79328
HP:0012210	Abnormal renal morphology	79796	ALG9	ORPHA:730
HP:0012210	Abnormal renal morphology	23405	DICER1	OMIM:618272
HP:0012210	Abnormal renal morphology	7547	ZIC3	OMIM:314390
HP:0012210	Abnormal renal morphology	7547	ZIC3	OMIM:306955
HP:0012210	Abnormal renal morphology	27031	NPHP3	OMIM:208540
HP:0012210	Abnormal renal morphology	27031	NPHP3	OMIM:604387
HP:0012210	Abnormal renal morphology	11311	VPS45	OMIM:615285
HP:0012210	Abnormal renal morphology	6288	SAA1	ORPHA:85445
HP:0012210	Abnormal renal morphology	65082	VPS33A	OMIM:617303
HP:0012210	Abnormal renal morphology	65082	VPS33A	ORPHA:505248
HP:0012210	Abnormal renal morphology	22858	CILK1	OMIM:612651
HP:0012210	Abnormal renal morphology	79158	GNPTAB	OMIM:252500
HP:0012210	Abnormal renal morphology	745	MYRF	OMIM:618280
HP:0012210	Abnormal renal morphology	51726	DNAJB11	ORPHA:730
HP:0012210	Abnormal renal morphology	23193	GANAB	ORPHA:730
HP:0012210	Abnormal renal morphology	5310	PKD1	ORPHA:730
HP:0012210	Abnormal renal morphology	5311	PKD2	ORPHA:730
HP:0012210	Abnormal renal morphology	29880	ALG5	ORPHA:730
HP:0012210	Abnormal renal morphology	9742	IFT140	ORPHA:730
HP:0012210	Abnormal renal morphology	80114	BICC1	ORPHA:730
HP:0012210	Abnormal renal morphology	1376	CPT2	OMIM:608836
HP:0012210	Abnormal renal morphology	1028	CDKN1C	OMIM:130650
HP:0012210	Abnormal renal morphology	3481	IGF2	OMIM:130650
HP:0012210	Abnormal renal morphology	3784	KCNQ1	OMIM:130650
HP:0012210	Abnormal renal morphology	10984	KCNQ1OT1	OMIM:130650
HP:0012210	Abnormal renal morphology	8260	NAA10	OMIM:300855
HP:0012210	Abnormal renal morphology	2538	G6PC1	OMIM:232200
HP:0012210	Abnormal renal morphology	2184	FAH	OMIM:276700
HP:0012210	Abnormal renal morphology	203286	ANKS6	OMIM:615382
HP:0012210	Abnormal renal morphology	7289	TULP3	OMIM:619902
HP:0012210	Abnormal renal morphology	55315	SLC29A3	ORPHA:168569
HP:0012210	Abnormal renal morphology	79867	TCTN2	OMIM:613885
HP:0012210	Abnormal renal morphology	2719	GPC3	OMIM:312870
HP:0012210	Abnormal renal morphology	2239	GPC4	OMIM:312870
HP:0012210	Abnormal renal morphology	27130	INVS	OMIM:602088
HP:0012210	Abnormal renal morphology	168667	BMPER	OMIM:608022
HP:0012210	Abnormal renal morphology	3767	KCNJ11	ORPHA:552
HP:0012210	Abnormal renal morphology	8462	KLF11	ORPHA:552
HP:0012210	Abnormal renal morphology	2645	GCK	ORPHA:552
HP:0012210	Abnormal renal morphology	26060	APPL1	ORPHA:552
HP:0012210	Abnormal renal morphology	640	BLK	ORPHA:552
HP:0012210	Abnormal renal morphology	1056	CEL	ORPHA:552
HP:0012210	Abnormal renal morphology	4760	NEUROD1	ORPHA:552
HP:0012210	Abnormal renal morphology	3651	PDX1	ORPHA:552
HP:0012210	Abnormal renal morphology	6833	ABCC8	ORPHA:552
HP:0012210	Abnormal renal morphology	5078	PAX4	ORPHA:552
HP:0012210	Abnormal renal morphology	3172	HNF4A	ORPHA:552
HP:0012210	Abnormal renal morphology	6927	HNF1A	ORPHA:552
HP:0012210	Abnormal renal morphology	3630	INS	ORPHA:552
HP:0012210	Abnormal renal morphology	5076	PAX2	ORPHA:97362
HP:0012210	Abnormal renal morphology	5076	PAX2	OMIM:120330
HP:0012210	Abnormal renal morphology	5087	PBX1	ORPHA:97362
HP:0012210	Abnormal renal morphology	54892	NCAPG2	OMIM:618460
HP:0012210	Abnormal renal morphology	100151683	RNU4ATAC	OMIM:210710
HP:0012210	Abnormal renal morphology	10806	SDCCAG8	OMIM:615993
HP:0012210	Abnormal renal morphology	54585	LZTFL1	OMIM:615994
HP:0012210	Abnormal renal morphology	79848	CSPP1	OMIM:615636
HP:0012210	Abnormal renal morphology	57539	WDR35	OMIM:613610
HP:0012210	Abnormal renal morphology	57539	WDR35	ORPHA:93271
HP:0012210	Abnormal renal morphology	57539	WDR35	OMIM:614091
HP:0012210	Abnormal renal morphology	65062	TMEM237	OMIM:614424
HP:0012210	Abnormal renal morphology	51259	TMEM216	OMIM:608091
HP:0012210	Abnormal renal morphology	51259	TMEM216	OMIM:603194
HP:0012210	Abnormal renal morphology	56623	INPP5E	OMIM:213300
HP:0012210	Abnormal renal morphology	81570	CLPB	ORPHA:445038
HP:0012210	Abnormal renal morphology	6718	AKR1D1	ORPHA:79303
HP:0012210	Abnormal renal morphology	3909	LAMA3	ORPHA:79404
HP:0012210	Abnormal renal morphology	3918	LAMC2	ORPHA:79404
HP:0012210	Abnormal renal morphology	3914	LAMB3	ORPHA:79404
HP:0012210	Abnormal renal morphology	91147	TMEM67	OMIM:216360
HP:0012210	Abnormal renal morphology	7707	ZNF148	OMIM:617260
HP:0012210	Abnormal renal morphology	79577	CDC73	ORPHA:143
HP:0012210	Abnormal renal morphology	79577	CDC73	ORPHA:99880
HP:0012210	Abnormal renal morphology	55112	DYNC2I1	ORPHA:93271
HP:0012210	Abnormal renal morphology	57560	IFT80	ORPHA:93271
HP:0012210	Abnormal renal morphology	89891	DYNC2I2	ORPHA:93271
HP:0012210	Abnormal renal morphology	473	RERE	OMIM:616975
HP:0012210	Abnormal renal morphology	473	RERE	ORPHA:1606
HP:0012210	Abnormal renal morphology	23322	RPGRIP1L	OMIM:611561
HP:0012210	Abnormal renal morphology	23322	RPGRIP1L	OMIM:611560
HP:0012210	Abnormal renal morphology	169792	GLIS3	OMIM:610199
HP:0012210	Abnormal renal morphology	10847	SRCAP	ORPHA:2044
HP:0012210	Abnormal renal morphology	7086	TKT	ORPHA:488618
HP:0012210	Abnormal renal morphology	23005	MAPKBP1	OMIM:617271
HP:0012210	Abnormal renal morphology	4853	NOTCH2	OMIM:102500
HP:0012210	Abnormal renal morphology	4853	NOTCH2	OMIM:610205
HP:0012210	Abnormal renal morphology	7020	TFAP2A	OMIM:113620
HP:0012210	Abnormal renal morphology	1717	DHCR7	OMIM:270400
HP:0012210	Abnormal renal morphology	80776	B9D2	OMIM:614175
HP:0012210	Abnormal renal morphology	79583	TMEM231	OMIM:614970
HP:0012210	Abnormal renal morphology	79813	EHMT1	OMIM:610253
HP:0012210	Abnormal renal morphology	8195	MKKS	OMIM:605231
HP:0012210	Abnormal renal morphology	26040	SETBP1	ORPHA:798
HP:0012210	Abnormal renal morphology	2737	GLI3	OMIM:146510
HP:0012210	Abnormal renal morphology	5373	PMM2	OMIM:212065
HP:0012210	Abnormal renal morphology	6628	SNRPB	OMIM:117650
HP:0012210	Abnormal renal morphology	51604	PIGT	OMIM:615398
HP:0012210	Abnormal renal morphology	51604	PIGT	ORPHA:369837
HP:0012210	Abnormal renal morphology	57545	CC2D2A	OMIM:612284
HP:0012210	Abnormal renal morphology	29927	SEC61A1	OMIM:617056
HP:0012210	Abnormal renal morphology	5190	PEX6	OMIM:614862
HP:0012210	Abnormal renal morphology	3458	IFNG	OMIM:613254
HP:0012210	Abnormal renal morphology	3458	IFNG	ORPHA:805
HP:0012210	Abnormal renal morphology	7249	TSC2	OMIM:613254
HP:0012210	Abnormal renal morphology	7249	TSC2	ORPHA:805
HP:0012210	Abnormal renal morphology	51524	TMEM138	OMIM:614465
HP:0012210	Abnormal renal morphology	4519	MT-CYB	ORPHA:137675
HP:0012210	Abnormal renal morphology	5828	PEX2	OMIM:614866
HP:0012210	Abnormal renal morphology	10283	CWC27	OMIM:250410
HP:0012210	Abnormal renal morphology	10283	CWC27	ORPHA:166035
HP:0012210	Abnormal renal morphology	5590	PRKCZ	ORPHA:1606
HP:0012210	Abnormal renal morphology	2563	GABRD	ORPHA:1606
HP:0012210	Abnormal renal morphology	23013	SPEN	ORPHA:1606
HP:0012210	Abnormal renal morphology	8510	MMP23B	ORPHA:1606
HP:0012210	Abnormal renal morphology	7798	LUZP1	ORPHA:1606
HP:0012210	Abnormal renal morphology	6497	SKI	ORPHA:1606
HP:0012210	Abnormal renal morphology	10630	PDPN	ORPHA:1606
HP:0012210	Abnormal renal morphology	3339	HSPG2	ORPHA:1606
HP:0012210	Abnormal renal morphology	10277	UBE4B	ORPHA:1606
HP:0012210	Abnormal renal morphology	8514	KCNAB2	ORPHA:1606
HP:0012210	Abnormal renal morphology	63976	PRDM16	ORPHA:1606
HP:0012210	Abnormal renal morphology	54897	CASZ1	ORPHA:1606
HP:0012210	Abnormal renal morphology	5589	PRKCSH	OMIM:174050
HP:0012210	Abnormal renal morphology	55165	CEP55	OMIM:236500
HP:0012210	Abnormal renal morphology	1859	DYRK1A	ORPHA:464311
HP:0012210	Abnormal renal morphology	5189	PEX1	OMIM:601539
HP:0012210	Abnormal renal morphology	5192	PEX10	OMIM:614870
HP:0012210	Abnormal renal morphology	5075	PAX1	OMIM:615560
HP:0012210	Abnormal renal morphology	4437	MSH3	OMIM:617100
HP:0012210	Abnormal renal morphology	4437	MSH3	ORPHA:480536
HP:0012210	Abnormal renal morphology	7248	TSC1	OMIM:191100
HP:0012210	Abnormal renal morphology	7248	TSC1	ORPHA:805
HP:0012210	Abnormal renal morphology	4351	MPI	OMIM:602579
HP:0012210	Abnormal renal morphology	7369	UMOD	OMIM:162000
HP:0012210	Abnormal renal morphology	4081	MAB21L1	ORPHA:495875
HP:0012210	Abnormal renal morphology	153241	CEP120	OMIM:616300
HP:0012210	Abnormal renal morphology	4041	LRP5	OMIM:617875
HP:0012210	Abnormal renal morphology	79053	ALG8	OMIM:617874
HP:0012210	Abnormal renal morphology	80184	CEP290	OMIM:611134
HP:0012210	Abnormal renal morphology	5194	PEX13	OMIM:614883
HP:0012210	Abnormal renal morphology	54916	TMEM260	OMIM:617478
HP:0012210	Abnormal renal morphology	25836	NIPBL	OMIM:122470
HP:0012210	Abnormal renal morphology	55005	RMND1	OMIM:614922
HP:0012210	Abnormal renal morphology	1282	COL4A1	OMIM:611773
HP:0012210	Abnormal renal morphology	3295	HSD17B4	OMIM:261515
HP:0012210	Abnormal renal morphology	2317	FLNB	OMIM:272460
HP:0012210	Abnormal renal morphology	701	BUB1B	OMIM:257300
HP:0012210	Abnormal renal morphology	9203	ZMYM3	OMIM:301111
HP:0012210	Abnormal renal morphology	23040	MYT1L	ORPHA:647799
HP:0012210	Abnormal renal morphology	8295	TRRAP	OMIM:618454
HP:0012210	Abnormal renal morphology	22827	PUF60	OMIM:615583
HP:0012210	Abnormal renal morphology	585	BBS4	OMIM:615982
HP:0012210	Abnormal renal morphology	79738	BBS10	OMIM:615987
HP:0012210	Abnormal renal morphology	26123	TCTN3	OMIM:614815
HP:0012210	Abnormal renal morphology	286204	CRB2	OMIM:219730
HP:0012210	Abnormal renal morphology	261734	NPHP4	OMIM:606966
HP:0012210	Abnormal renal morphology	63929	XPNPEP3	OMIM:613159
HP:0012210	Abnormal renal morphology	4582	MUC1	OMIM:174000
HP:0012210	Abnormal renal morphology	9949	AMMECR1	OMIM:300990
HP:0012210	Abnormal renal morphology	83483	PLVAP	OMIM:618183
HP:0012210	Abnormal renal morphology	4613	MYCN	ORPHA:391641
HP:0012210	Abnormal renal morphology	2138	EYA1	OMIM:113650
HP:0012210	Abnormal renal morphology	6495	SIX1	OMIM:113650
HP:0012210	Abnormal renal morphology	8239	USP9X	ORPHA:480880
HP:0012210	Abnormal renal morphology	8239	USP9X	OMIM:300968
HP:0012210	Abnormal renal morphology	6608	SMO	OMIM:241800
HP:0012210	Abnormal renal morphology	8626	TP63	OMIM:604292
HP:0012210	Abnormal renal morphology	54361	WNT4	ORPHA:2578
HP:0012210	Abnormal renal morphology	9786	KIAA0586	ORPHA:397715
HP:0012210	Abnormal renal morphology	2887	GRB10	ORPHA:96182
HP:0012210	Abnormal renal morphology	51360	MBTPS2	OMIM:308205
HP:0012210	Abnormal renal morphology	51360	MBTPS2	ORPHA:85284
HP:0012210	Abnormal renal morphology	6299	SALL1	OMIM:107480
HP:0012210	Abnormal renal morphology	170302	ARX	OMIM:300004
HP:0012210	Abnormal renal morphology	170302	ARX	ORPHA:2508
HP:0012210	Abnormal renal morphology	170302	ARX	ORPHA:1934
HP:0012210	Abnormal renal morphology	10229	COQ7	OMIM:616733
HP:0012210	Abnormal renal morphology	2625	GATA3	OMIM:146255
HP:0012210	Abnormal renal morphology	2625	GATA3	ORPHA:2237
HP:0012210	Abnormal renal morphology	182	JAG1	OMIM:118450
HP:0012210	Abnormal renal morphology	29954	POMT2	OMIM:236670
HP:0012210	Abnormal renal morphology	79147	FKRP	OMIM:236670
HP:0012210	Abnormal renal morphology	2218	FKTN	OMIM:236670
HP:0012210	Abnormal renal morphology	10585	POMT1	OMIM:236670
HP:0012210	Abnormal renal morphology	9215	LARGE1	OMIM:236670
HP:0012210	Abnormal renal morphology	23556	PIGN	OMIM:614080
HP:0012210	Abnormal renal morphology	6899	TBX1	OMIM:188400
HP:0012210	Abnormal renal morphology	8516	ITGA8	OMIM:191830
HP:0012210	Abnormal renal morphology	26173	INTS1	OMIM:618571
HP:0012210	Abnormal renal morphology	123016	TTC8	OMIM:615985
HP:0012210	Abnormal renal morphology	147912	SIX5	OMIM:610896
HP:0012210	Abnormal renal morphology	63895	PIEZO2	ORPHA:2461
HP:0012210	Abnormal renal morphology	9096	TBX18	OMIM:143400
HP:0012210	Abnormal renal morphology	80000	GREB1L	OMIM:617805
HP:0012210	Abnormal renal morphology	6792	CDKL5	ORPHA:1934
HP:0012210	Abnormal renal morphology	3736	KCNA1	ORPHA:1934
HP:0012210	Abnormal renal morphology	9091	PIGQ	ORPHA:1934
HP:0012210	Abnormal renal morphology	140679	SLC32A1	ORPHA:1934
HP:0012210	Abnormal renal morphology	2775	GNAO1	ORPHA:1934
HP:0012210	Abnormal renal morphology	81603	TRIM8	ORPHA:1934
HP:0012210	Abnormal renal morphology	2902	GRIN1	ORPHA:1934
HP:0012210	Abnormal renal morphology	79751	SLC25A22	ORPHA:1934
HP:0012210	Abnormal renal morphology	150094	SIK1	ORPHA:1934
HP:0012210	Abnormal renal morphology	8573	CASK	ORPHA:1934
HP:0012210	Abnormal renal morphology	23312	DMXL2	ORPHA:1934
HP:0012210	Abnormal renal morphology	2917	GRM7	ORPHA:1934
HP:0012210	Abnormal renal morphology	11284	PNKP	ORPHA:1934
HP:0012210	Abnormal renal morphology	6326	SCN2A	ORPHA:1934
HP:0012210	Abnormal renal morphology	51227	PIGP	ORPHA:1934
HP:0012210	Abnormal renal morphology	6324	SCN1B	ORPHA:1934
HP:0012210	Abnormal renal morphology	4761	NEUROD2	ORPHA:1934
HP:0012210	Abnormal renal morphology	4750	NEK1	OMIM:263520
HP:0012210	Abnormal renal morphology	85358	SHANK3	OMIM:606232
HP:0012210	Abnormal renal morphology	157570	ESCO2	ORPHA:3103
HP:0012210	Abnormal renal morphology	157570	ESCO2	OMIM:268300
HP:0012210	Abnormal renal morphology	9321	TRIP11	OMIM:184260
HP:0012210	Abnormal renal morphology	219854	TMEM218	OMIM:619562
HP:0012210	Abnormal renal morphology	112752	IFT43	OMIM:617866
HP:0012210	Abnormal renal morphology	23090	ZNF423	OMIM:614844
HP:0012210	Abnormal renal morphology	1312	COMT	ORPHA:567
HP:0012210	Abnormal renal morphology	221037	JMJD1C	ORPHA:567
HP:0012210	Abnormal renal morphology	6239	RREB1	ORPHA:567
HP:0012210	Abnormal renal morphology	7290	HIRA	ORPHA:567
HP:0012210	Abnormal renal morphology	9632	SEC24C	ORPHA:567
HP:0012210	Abnormal renal morphology	7353	UFD1	ORPHA:567
HP:0012210	Abnormal renal morphology	421	ARVCF	ORPHA:567
HP:0012210	Abnormal renal morphology	9652	SKIC3	ORPHA:84064
HP:0012210	Abnormal renal morphology	6499	SKIC2	ORPHA:84064
HP:0012210	Abnormal renal morphology	2110	ETFDH	OMIM:231680
HP:0012210	Abnormal renal morphology	2108	ETFA	OMIM:231680
HP:0012210	Abnormal renal morphology	2109	ETFB	OMIM:231680
HP:0012210	Abnormal renal morphology	8504	PEX3	OMIM:617370
HP:0012210	Abnormal renal morphology	6809	STX3	ORPHA:2290
HP:0012210	Abnormal renal morphology	4645	MYO5B	ORPHA:2290
HP:0012210	Abnormal renal morphology	6569	SLC34A1	OMIM:616963
HP:0012210	Abnormal renal morphology	92335	STRADA	ORPHA:500533
HP:0012210	Abnormal renal morphology	92335	STRADA	OMIM:611087
HP:0012210	Abnormal renal morphology	2767	GNA11	ORPHA:428
HP:0012210	Abnormal renal morphology	846	CASR	ORPHA:428
HP:0012210	Abnormal renal morphology	846	CASR	OMIM:601198
HP:0012210	Abnormal renal morphology	1184	CLCN5	OMIM:308990
HP:0012210	Abnormal renal morphology	1184	CLCN5	OMIM:300009
HP:0012210	Abnormal renal morphology	1184	CLCN5	OMIM:300554
HP:0012210	Abnormal renal morphology	1184	CLCN5	OMIM:310468
HP:0012210	Abnormal renal morphology	9380	GRHPR	OMIM:260000
HP:0012210	Abnormal renal morphology	9380	GRHPR	ORPHA:93599
HP:0012210	Abnormal renal morphology	249	ALPL	OMIM:241500
HP:0012210	Abnormal renal morphology	6729	SRP54	OMIM:260400
HP:0012210	Abnormal renal morphology	51119	SBDS	OMIM:260400
HP:0012210	Abnormal renal morphology	134218	DNAJC21	OMIM:260400
HP:0012210	Abnormal renal morphology	10686	CLDN16	OMIM:248250
HP:0012210	Abnormal renal morphology	4952	OCRL	ORPHA:534
HP:0012210	Abnormal renal morphology	4952	OCRL	OMIM:300555
HP:0012210	Abnormal renal morphology	58528	RRAGD	OMIM:620152
HP:0012210	Abnormal renal morphology	2530	FUT8	OMIM:618005
HP:0012210	Abnormal renal morphology	6521	SLC4A1	OMIM:179800
HP:0012210	Abnormal renal morphology	6521	SLC4A1	OMIM:611590
HP:0012210	Abnormal renal morphology	54757	FAM20A	OMIM:204690
HP:0012210	Abnormal renal morphology	54757	FAM20A	ORPHA:1031
HP:0012210	Abnormal renal morphology	4358	MPV17	OMIM:256810
HP:0012210	Abnormal renal morphology	4221	MEN1	ORPHA:99879
HP:0012210	Abnormal renal morphology	9247	GCM2	ORPHA:99879
HP:0012210	Abnormal renal morphology	3291	HSD11B2	ORPHA:320
HP:0012210	Abnormal renal morphology	6557	SLC12A1	OMIM:601678
HP:0012210	Abnormal renal morphology	26276	VPS33B	OMIM:208085
HP:0012210	Abnormal renal morphology	3758	KCNJ1	OMIM:241200
HP:0012210	Abnormal renal morphology	149461	CLDN19	OMIM:248190
HP:0012210	Abnormal renal morphology	1591	CYP24A1	OMIM:143880
HP:0012210	Abnormal renal morphology	63894	VIPAS39	OMIM:613404
HP:0012210	Abnormal renal morphology	56244	BTNL2	ORPHA:797
HP:0012210	Abnormal renal morphology	3123	HLA-DRB1	ORPHA:797
HP:0012210	Abnormal renal morphology	9056	SLC7A7	ORPHA:470
HP:0012210	Abnormal renal morphology	7809	BSND	ORPHA:89938
HP:0012210	Abnormal renal morphology	1188	CLCNKB	ORPHA:89938
HP:0012210	Abnormal renal morphology	1188	CLCNKB	OMIM:607364
HP:0012210	Abnormal renal morphology	1187	CLCNKA	ORPHA:89938
HP:0012210	Abnormal renal morphology	5251	PHEX	ORPHA:89936
HP:0012210	Abnormal renal morphology	51095	TRNT1	OMIM:616084
HP:0012210	Abnormal renal morphology	5167	ENPP1	ORPHA:51608
HP:0012210	Abnormal renal morphology	5167	ENPP1	ORPHA:758
HP:0012210	Abnormal renal morphology	368	ABCC6	ORPHA:51608
HP:0012210	Abnormal renal morphology	368	ABCC6	OMIM:614473
HP:0012210	Abnormal renal morphology	368	ABCC6	ORPHA:758
HP:0012210	Abnormal renal morphology	189	AGXT	OMIM:259900
HP:0012210	Abnormal renal morphology	189	AGXT	ORPHA:93598
HP:0012210	Abnormal renal morphology	526	ATP6V1B2	ORPHA:79500
HP:0012210	Abnormal renal morphology	57465	TBC1D24	ORPHA:79500
HP:0012210	Abnormal renal morphology	4210	MEFV	ORPHA:342
HP:0012210	Abnormal renal morphology	3251	HPRT1	OMIM:300322
HP:0012210	Abnormal renal morphology	6506	SLC1A2	OMIM:617105
HP:0012210	Abnormal renal morphology	476	ATP1A1	OMIM:618314
HP:0012210	Abnormal renal morphology	476	ATP1A1	ORPHA:564178
HP:0012210	Abnormal renal morphology	6514	SLC2A2	ORPHA:2088
HP:0012210	Abnormal renal morphology	5745	PTH1R	OMIM:156400
HP:0012210	Abnormal renal morphology	326	AIRE	OMIM:240300
HP:0012210	Abnormal renal morphology	5741	PTH	OMIM:146200
HP:0012210	Abnormal renal morphology	2591	GALNT3	OMIM:211900
HP:0012210	Abnormal renal morphology	50628	GEMIN4	OMIM:617913
HP:0012210	Abnormal renal morphology	1285	COL4A3	OMIM:104200
HP:0012210	Abnormal renal morphology	5286	PIK3C2A	ORPHA:557003
HP:0012210	Abnormal renal morphology	50617	ATP6V0A4	OMIM:602722
HP:0012210	Abnormal renal morphology	7543	ZFX	OMIM:301118
HP:0012210	Abnormal renal morphology	529	ATP6V1E1	OMIM:617402
HP:0012210	Abnormal renal morphology	57592	ZNF687	OMIM:616833
HP:0012210	Abnormal renal morphology	112817	HOGA1	ORPHA:93600
HP:0012210	Abnormal renal morphology	27199	OXGR1	OMIM:620374
HP:0012210	Abnormal renal morphology	8294	H4C9	OMIM:619951
HP:0012210	Abnormal renal morphology	5832	ALDH18A1	OMIM:616603
HP:0012210	Abnormal renal morphology	5832	ALDH18A1	ORPHA:90348
HP:0012210	Abnormal renal morphology	91801	ALKBH8	OMIM:618504
HP:0012210	Abnormal renal morphology	8496	PPFIBP1	OMIM:620024
HP:0012210	Abnormal renal morphology	998	CDC42	OMIM:616737
HP:0012210	Abnormal renal morphology	998	CDC42	ORPHA:487796
HP:0012210	Abnormal renal morphology	3417	IDH1	ORPHA:99646
HP:0012210	Abnormal renal morphology	50814	NSDHL	OMIM:308050
HP:0012210	Abnormal renal morphology	412	STS	ORPHA:281090
HP:0012210	Abnormal renal morphology	55012	PPP2R3C	OMIM:618419
HP:0012210	Abnormal renal morphology	2783	GNB2	OMIM:619503
HP:0012210	Abnormal renal morphology	26057	ANKRD17	OMIM:619504
HP:0012210	Abnormal renal morphology	5573	PRKAR1A	OMIM:101800
HP:0012210	Abnormal renal morphology	6811	STX5	OMIM:620454
HP:0012210	Abnormal renal morphology	6862	TBXT	OMIM:615709
HP:0012210	Abnormal renal morphology	9653	HS2ST1	OMIM:619194
HP:0012210	Abnormal renal morphology	5518	PPP2R1A	OMIM:616362
HP:0012210	Abnormal renal morphology	5518	PPP2R1A	ORPHA:457284
HP:0012210	Abnormal renal morphology	348180	CTU2	OMIM:618142
HP:0012210	Abnormal renal morphology	54499	TMCO1	OMIM:213980
HP:0012210	Abnormal renal morphology	55252	ASXL2	OMIM:617190
HP:0012210	Abnormal renal morphology	10516	FBLN5	ORPHA:90348
HP:0012210	Abnormal renal morphology	55191	NADSYN1	OMIM:618845
HP:0012210	Abnormal renal morphology	55788	LMBRD1	ORPHA:79284
HP:0012210	Abnormal renal morphology	9276	COPB2	ORPHA:2512
HP:0012210	Abnormal renal morphology	22995	CEP152	ORPHA:2512
HP:0012210	Abnormal renal morphology	284403	WDR62	ORPHA:2512
HP:0012210	Abnormal renal morphology	55262	TRAPPC14	ORPHA:2512
HP:0012210	Abnormal renal morphology	163786	SASS6	ORPHA:2512
HP:0012210	Abnormal renal morphology	29920	PYCR2	ORPHA:2512
HP:0012210	Abnormal renal morphology	84879	MFSD2A	ORPHA:2512
HP:0012210	Abnormal renal morphology	4176	MCM7	ORPHA:2512
HP:0012210	Abnormal renal morphology	80254	CEP63	ORPHA:2512
HP:0012210	Abnormal renal morphology	29081	METTL5	ORPHA:2512
HP:0012210	Abnormal renal morphology	79023	NUP37	ORPHA:2512
HP:0012210	Abnormal renal morphology	23310	NCAPD3	ORPHA:2512
HP:0012210	Abnormal renal morphology	6301	SARS1	ORPHA:2512
HP:0012210	Abnormal renal morphology	55755	CDK5RAP2	ORPHA:2512
HP:0012210	Abnormal renal morphology	79648	MCPH1	ORPHA:2512
HP:0012210	Abnormal renal morphology	6491	STIL	ORPHA:2512
HP:0012210	Abnormal renal morphology	23141	ANKLE2	ORPHA:2512
HP:0012210	Abnormal renal morphology	259266	ASPM	ORPHA:2512
HP:0012210	Abnormal renal morphology	7109	TRAPPC10	ORPHA:2512
HP:0012210	Abnormal renal morphology	7453	WARS1	ORPHA:2512
HP:0012210	Abnormal renal morphology	1911	PHC1	ORPHA:2512
HP:0012210	Abnormal renal morphology	1062	CENPE	ORPHA:2512
HP:0012210	Abnormal renal morphology	6884	TAF13	ORPHA:2512
HP:0012210	Abnormal renal morphology	9662	CEP135	ORPHA:2512
HP:0012210	Abnormal renal morphology	57082	KNL1	ORPHA:2512
HP:0012210	Abnormal renal morphology	1021	CDK6	ORPHA:2512
HP:0012210	Abnormal renal morphology	6095	RORA	OMIM:618060
HP:0012210	Abnormal renal morphology	7528	YY1	ORPHA:506358
HP:0012210	Abnormal renal morphology	7528	YY1	OMIM:617557
HP:0012210	Abnormal renal morphology	26235	FBXL4	OMIM:615471
HP:0012210	Abnormal renal morphology	9860	LRIG2	OMIM:615112
HP:0012210	Abnormal renal morphology	9860	LRIG2	ORPHA:2704
HP:0012210	Abnormal renal morphology	8425	LTBP4	OMIM:613177
HP:0012210	Abnormal renal morphology	81857	MED25	OMIM:616449
HP:0012210	Abnormal renal morphology	81857	MED25	ORPHA:464738
HP:0012210	Abnormal renal morphology	538	ATP7A	OMIM:304150
HP:0012210	Abnormal renal morphology	126792	B3GALT6	OMIM:609465
HP:0012210	Abnormal renal morphology	10093	ARPC4	OMIM:620141
HP:0012210	Abnormal renal morphology	6662	SOX9	ORPHA:140
HP:0012210	Abnormal renal morphology	6662	SOX9	OMIM:114290
HP:0012210	Abnormal renal morphology	197131	UBR1	OMIM:243800
HP:0012210	Abnormal renal morphology	197131	UBR1	ORPHA:2315
HP:0012210	Abnormal renal morphology	2782	GNB1	ORPHA:488613
HP:0012210	Abnormal renal morphology	2782	GNB1	OMIM:616973
HP:0012210	Abnormal renal morphology	9915	ARNT2	OMIM:615926
HP:0012210	Abnormal renal morphology	9382	COG1	OMIM:611209
HP:0012210	Abnormal renal morphology	84720	PIGO	ORPHA:247262
HP:0012210	Abnormal renal morphology	93210	PGAP3	ORPHA:247262
HP:0012210	Abnormal renal morphology	284098	PIGW	ORPHA:247262
HP:0012210	Abnormal renal morphology	27315	PGAP2	ORPHA:247262
HP:0012210	Abnormal renal morphology	4001	LMNB1	OMIM:619179
HP:0012210	Abnormal renal morphology	25885	POLR1A	OMIM:616462
HP:0012210	Abnormal renal morphology	1136	CHRNA3	OMIM:191800
HP:0012210	Abnormal renal morphology	815	CAMK2A	OMIM:617798
HP:0012210	Abnormal renal morphology	92579	G6PC3	OMIM:612541
HP:0012210	Abnormal renal morphology	7994	KAT6A	ORPHA:457193
HP:0012210	Abnormal renal morphology	7994	KAT6A	OMIM:616268
HP:0012210	Abnormal renal morphology	23116	TOGARAM1	OMIM:619185
HP:0012210	Abnormal renal morphology	7466	WFS1	OMIM:222300
HP:0012210	Abnormal renal morphology	1656	DDX6	OMIM:618653
HP:0012210	Abnormal renal morphology	10682	EBP	ORPHA:35173
HP:0012210	Abnormal renal morphology	10682	EBP	OMIM:302960
HP:0012210	Abnormal renal morphology	60495	HPSE2	ORPHA:2704
HP:0012210	Abnormal renal morphology	60495	HPSE2	OMIM:236730
HP:0012210	Abnormal renal morphology	11193	WBP4	OMIM:620852
HP:0012210	Abnormal renal morphology	2316	FLNA	ORPHA:90652
HP:0012210	Abnormal renal morphology	2316	FLNA	ORPHA:2484
HP:0012210	Abnormal renal morphology	2316	FLNA	OMIM:304120
HP:0012210	Abnormal renal morphology	2316	FLNA	ORPHA:1826
HP:0012210	Abnormal renal morphology	2316	FLNA	OMIM:309350
HP:0012210	Abnormal renal morphology	2316	FLNA	OMIM:305620
HP:0012210	Abnormal renal morphology	2316	FLNA	OMIM:300048
HP:0012210	Abnormal renal morphology	5337	PLD1	OMIM:212093
HP:0012210	Abnormal renal morphology	3981	LIG4	ORPHA:235
HP:0012210	Abnormal renal morphology	54888	NSUN2	ORPHA:235
HP:0012210	Abnormal renal morphology	1493	CTLA4	ORPHA:900
HP:0012210	Abnormal renal morphology	26191	PTPN22	ORPHA:900
HP:0012210	Abnormal renal morphology	3115	HLA-DPB1	ORPHA:900
HP:0012210	Abnormal renal morphology	5657	PRTN3	ORPHA:900
HP:0012210	Abnormal renal morphology	3113	HLA-DPA1	ORPHA:900
HP:0012210	Abnormal renal morphology	8314	BAP1	OMIM:619762
HP:0012210	Abnormal renal morphology	2065	ERBB3	OMIM:607598
HP:0012210	Abnormal renal morphology	9968	MED12	OMIM:301068
HP:0012210	Abnormal renal morphology	64321	SOX17	OMIM:613674
HP:0012210	Abnormal renal morphology	91949	COG7	OMIM:608779
HP:0012210	Abnormal renal morphology	4683	NBN	OMIM:251260
HP:0012210	Abnormal renal morphology	5648	MASP1	OMIM:257920
HP:0012210	Abnormal renal morphology	90459	ERI1	OMIM:620663
HP:0012210	Abnormal renal morphology	90459	ERI1	OMIM:620662
HP:0012210	Abnormal renal morphology	2972	BRF1	ORPHA:444072
HP:0012210	Abnormal renal morphology	388015	RTL1	ORPHA:254528
HP:0012210	Abnormal renal morphology	8788	DLK1	ORPHA:254528
HP:0012210	Abnormal renal morphology	55384	MEG3	ORPHA:254528
HP:0012210	Abnormal renal morphology	389827	MYMK	ORPHA:1358
HP:0012210	Abnormal renal morphology	101929726	MYMX	ORPHA:1358
HP:0012210	Abnormal renal morphology	56975	FAM20C	OMIM:259775
HP:0012210	Abnormal renal morphology	25915	NDUFAF3	OMIM:618240
HP:0012210	Abnormal renal morphology	400569	MED11	OMIM:620327
HP:0012210	Abnormal renal morphology	5604	MAP2K1	ORPHA:1340
HP:0012210	Abnormal renal morphology	5605	MAP2K2	ORPHA:1340
HP:0012210	Abnormal renal morphology	2019	EN1	OMIM:619218
HP:0012210	Abnormal renal morphology	23111	SPART	ORPHA:101000
HP:0012210	Abnormal renal morphology	64864	RFX7	OMIM:620330
HP:0012210	Abnormal renal morphology	1499	CTNNB1	ORPHA:873
HP:0012210	Abnormal renal morphology	10526	IPO8	OMIM:619472
HP:0012210	Abnormal renal morphology	2892	GRIA3	ORPHA:364028
HP:0012210	Abnormal renal morphology	5530	PPP3CA	OMIM:618265
HP:0012210	Abnormal renal morphology	55617	TASP1	OMIM:618950
HP:0012210	Abnormal renal morphology	51715	RAB23	OMIM:201000
HP:0012210	Abnormal renal morphology	202018	TAPT1	OMIM:616897
HP:0012210	Abnormal renal morphology	5426	POLE	ORPHA:85173
HP:0012210	Abnormal renal morphology	9897	WASHC5	OMIM:220210
HP:0012210	Abnormal renal morphology	9897	WASHC5	ORPHA:7
HP:0012210	Abnormal renal morphology	10491	CRTAP	OMIM:610682
HP:0012210	Abnormal renal morphology	5236	PGM1	OMIM:614921
HP:0012210	Abnormal renal morphology	10295	BCKDK	OMIM:614923
HP:0012210	Abnormal renal morphology	219844	HYLS1	OMIM:236680
HP:0012210	Abnormal renal morphology	71	ACTG1	ORPHA:2995
HP:0012210	Abnormal renal morphology	60	ACTB	ORPHA:2995
HP:0012210	Abnormal renal morphology	28952	CCDC22	ORPHA:7
HP:0012210	Abnormal renal morphology	57020	VPS35L	ORPHA:7
HP:0012210	Abnormal renal morphology	56896	DPYSL5	ORPHA:7
HP:0012210	Abnormal renal morphology	6913	TBX15	OMIM:260660
HP:0012210	Abnormal renal morphology	375056	MIA3	OMIM:619269
HP:0012210	Abnormal renal morphology	4281	MID1	ORPHA:2745
HP:0012210	Abnormal renal morphology	1497	CTNS	OMIM:219800
HP:0012210	Abnormal renal morphology	7421	VDR	ORPHA:93160
HP:0012210	Abnormal renal morphology	776	CACNA1D	OMIM:615474
HP:0012210	Abnormal renal morphology	776	CACNA1D	ORPHA:369929
HP:0012210	Abnormal renal morphology	3081	HGD	OMIM:203500
HP:0012210	Abnormal renal morphology	3081	HGD	ORPHA:56
HP:0012210	Abnormal renal morphology	1119	CHKA	OMIM:620023
HP:0012210	Abnormal renal morphology	6519	SLC3A1	OMIM:220100
HP:0012210	Abnormal renal morphology	6519	SLC3A1	ORPHA:163690
HP:0012210	Abnormal renal morphology	6519	SLC3A1	ORPHA:163693
HP:0012210	Abnormal renal morphology	11136	SLC7A9	OMIM:220100
HP:0012210	Abnormal renal morphology	1387	CREBBP	ORPHA:353281
HP:0012210	Abnormal renal morphology	1387	CREBBP	ORPHA:353277
HP:0012210	Abnormal renal morphology	2033	EP300	ORPHA:353284
HP:0012210	Abnormal renal morphology	6523	SLC5A1	ORPHA:35710
HP:0012210	Abnormal renal morphology	55034	MOCOS	OMIM:603592
HP:0012210	Abnormal renal morphology	525	ATP6V1B1	OMIM:267300
HP:0012210	Abnormal renal morphology	1491	CTH	ORPHA:212
HP:0012210	Abnormal renal morphology	9071	CLDN10	OMIM:617671
HP:0012210	Abnormal renal morphology	153642	ARSK	OMIM:619698
HP:0012210	Abnormal renal morphology	3756	KCNH1	OMIM:135500
HP:0012210	Abnormal renal morphology	113189	CHST14	ORPHA:2953
HP:0012210	Abnormal renal morphology	29940	DSE	ORPHA:2953
HP:0012210	Abnormal renal morphology	2200	FBN1	ORPHA:2833
HP:0012210	Abnormal renal morphology	353	APRT	OMIM:614723
HP:0012210	Abnormal renal morphology	353	APRT	ORPHA:976
HP:0012210	Abnormal renal morphology	3872	KRT17	ORPHA:841
HP:0012210	Abnormal renal morphology	5340	PLG	ORPHA:722
HP:0012210	Abnormal renal morphology	5340	PLG	OMIM:217090
HP:0012210	Abnormal renal morphology	10555	AGPAT2	OMIM:608594
HP:0012210	Abnormal renal morphology	1175	AP2S1	OMIM:600740
HP:0012210	Abnormal renal morphology	64127	NOD2	OMIM:617321
HP:0012210	Abnormal renal morphology	92949	ADAMTSL1	ORPHA:521445
HP:0012210	Abnormal renal morphology	5333	PLCD1	ORPHA:2387
HP:0012210	Abnormal renal morphology	9049	AIP	OMIM:219090
HP:0012210	Abnormal renal morphology	9101	USP8	OMIM:219090
HP:0012210	Abnormal renal morphology	760	CA2	ORPHA:2785
HP:0012210	Abnormal renal morphology	6505	SLC1A1	OMIM:222730
HP:0012210	Abnormal renal morphology	26580	BSCL2	OMIM:269700
HP:0012210	Abnormal renal morphology	9368	NHERF1	OMIM:612287
HP:0012210	Abnormal renal morphology	9681	DEPDC5	OMIM:620504
HP:0012210	Abnormal renal morphology	540	ATP7B	ORPHA:905
HP:0012210	Abnormal renal morphology	540	ATP7B	OMIM:277900
HP:0012210	Abnormal renal morphology	92667	MGME1	ORPHA:352447
HP:0012210	Abnormal renal morphology	2947	GSTM3	ORPHA:586
HP:0012210	Abnormal renal morphology	7040	TGFB1	ORPHA:586
HP:0012210	Abnormal renal morphology	2729	GCLC	ORPHA:586
HP:0012210	Abnormal renal morphology	1084	CEACAM3	ORPHA:586
HP:0012210	Abnormal renal morphology	6556	SLC11A1	ORPHA:586
HP:0012210	Abnormal renal morphology	51164	DCTN4	ORPHA:586
HP:0012210	Abnormal renal morphology	3783	KCNN4	ORPHA:586
HP:0012210	Abnormal renal morphology	4282	MIF	ORPHA:586
HP:0012210	Abnormal renal morphology	1909	EDNRA	ORPHA:586
HP:0012210	Abnormal renal morphology	6550	SLC9A3	ORPHA:586
HP:0012210	Abnormal renal morphology	3162	HMOX1	ORPHA:586
HP:0012210	Abnormal renal morphology	115019	SLC26A9	ORPHA:586
HP:0012210	Abnormal renal morphology	3077	HFE	ORPHA:586
HP:0012210	Abnormal renal morphology	11254	SLC6A14	ORPHA:586
HP:0012210	Abnormal renal morphology	5265	SERPINA1	ORPHA:586
HP:0012210	Abnormal renal morphology	22802	CLCA4	ORPHA:586
HP:0012210	Abnormal renal morphology	4680	CEACAM6	ORPHA:586
HP:0012210	Abnormal renal morphology	10398	MYL9	OMIM:619365
HP:0012210	Abnormal renal morphology	79798	ARMC5	ORPHA:189427
HP:0012210	Abnormal renal morphology	23028	KDM1A	ORPHA:189427
HP:0012210	Abnormal renal morphology	2778	GNAS	ORPHA:189427
HP:0012210	Abnormal renal morphology	9581	PREPL	ORPHA:163690
HP:0012210	Abnormal renal morphology	9581	PREPL	ORPHA:163693
HP:0012210	Abnormal renal morphology	90	ACVR1	ORPHA:337
HP:0012210	Abnormal renal morphology	5495	PPM1B	ORPHA:163693
HP:0012210	Abnormal renal morphology	79823	CAMKMT	ORPHA:163693
HP:0012210	Abnormal renal morphology	1027	CDKN1B	ORPHA:652
HP:0012210	Abnormal renal morphology	1026	CDKN1A	ORPHA:652
HP:0012210	Abnormal renal morphology	1030	CDKN2B	ORPHA:652
HP:0012210	Abnormal renal morphology	1031	CDKN2C	ORPHA:652
HP:0012210	Abnormal renal morphology	142680	SLC34A3	ORPHA:157215
HP:0012210	Abnormal renal morphology	9365	KL	OMIM:617994
HP:0012210	Abnormal renal morphology	9075	CLDN2	OMIM:301060
HP:0012210	Abnormal renal morphology	6476	SI	OMIM:222900
HP:0012210	Abnormal renal morphology	51004	COQ6	OMIM:614650
HP:0012210	Abnormal renal morphology	56606	SLC2A9	OMIM:612076
HP:0012210	Abnormal renal morphology	55367	PIDD1	OMIM:619827
HP:0012210	Abnormal renal morphology	84168	ANTXR1	ORPHA:2067
HP:0012210	Abnormal renal morphology	161742	SPRED1	ORPHA:137605
HP:0012210	Abnormal renal morphology	871	SERPINH1	OMIM:613848
HP:0012210	Abnormal renal morphology	10861	SLC26A1	OMIM:620372
HP:0012210	Abnormal renal morphology	5631	PRPS1	ORPHA:411543
HP:0012210	Abnormal renal morphology	5631	PRPS1	ORPHA:411536
HP:0012210	Abnormal renal morphology	5631	PRPS1	OMIM:300661
HP:0012210	Abnormal renal morphology	116085	SLC22A12	OMIM:220150
HP:0012210	Abnormal renal morphology	57169	ZNFX1	OMIM:619644
HP:0012210	Abnormal renal morphology	1777	DNASE2	OMIM:619858
HP:0012210	Abnormal renal morphology	712	C1QA	OMIM:613652
HP:0012210	Abnormal renal morphology	5238	PGM3	ORPHA:443811
HP:0012210	Abnormal renal morphology	5238	PGM3	OMIM:615816
HP:0012210	Abnormal renal morphology	8526	DGKE	OMIM:615008
HP:0012210	Abnormal renal morphology	718	C3	OMIM:613779
HP:0012210	Abnormal renal morphology	10253	SPRY2	OMIM:616818
HP:0012210	Abnormal renal morphology	3949	LDLR	ORPHA:391665
HP:0012210	Abnormal renal morphology	255738	PCSK9	ORPHA:391665
HP:0012210	Abnormal renal morphology	26119	LDLRAP1	ORPHA:391665
HP:0012210	Abnormal renal morphology	338	APOB	ORPHA:391665
HP:0012210	Abnormal renal morphology	64240	ABCG5	ORPHA:391665
HP:0012210	Abnormal renal morphology	64241	ABCG8	ORPHA:391665
HP:0012210	Abnormal renal morphology	5105	PCK1	OMIM:261680
HP:0012210	Abnormal renal morphology	348	APOE	ORPHA:412
HP:0012210	Abnormal renal morphology	5106	PCK2	OMIM:261650
HP:0012210	Abnormal renal morphology	83700	JAM3	OMIM:613730
HP:0012210	Abnormal renal morphology	166379	BBS12	OMIM:615989
HP:0012210	Abnormal renal morphology	9526	MPDU1	OMIM:609180
HP:0012210	Abnormal renal morphology	9526	MPDU1	ORPHA:79323
HP:0012210	Abnormal renal morphology	7498	XDH	OMIM:278300
HP:0012210	Abnormal renal morphology	4337	MOCS1	OMIM:252150
HP:0012210	Abnormal renal morphology	4338	MOCS2	OMIM:252160
HP:0012210	Abnormal renal morphology	114548	NLRP3	ORPHA:575
HP:0012210	Abnormal renal morphology	114548	NLRP3	OMIM:191900
HP:0012210	Abnormal renal morphology	114548	NLRP3	OMIM:120100
HP:0012210	Abnormal renal morphology	4312	MMP1	ORPHA:79408
HP:0012210	Abnormal renal morphology	1294	COL7A1	ORPHA:79408
HP:0012210	Abnormal renal morphology	4069	LYZ	OMIM:620658
HP:0012210	Abnormal renal morphology	335	APOA1	OMIM:620657
HP:0012210	Abnormal renal morphology	567	B2M	ORPHA:314652
HP:0012210	Abnormal renal morphology	2243	FGA	OMIM:105200
HP:0012210	Abnormal renal morphology	55249	YY1AP1	OMIM:602531
HP:0012210	Abnormal renal morphology	6772	STAT1	ORPHA:391487
HP:0012210	Abnormal renal morphology	9896	FIG4	ORPHA:3472
HP:0012210	Abnormal renal morphology	55697	VAC14	ORPHA:3472
HP:0012210	Abnormal renal morphology	3593	IL12B	ORPHA:3287
HP:0012210	Abnormal renal morphology	6945	MLX	ORPHA:3287
HP:0012210	Abnormal renal morphology	5456	POU3F4	ORPHA:1435
HP:0012210	Abnormal renal morphology	2335	FN1	ORPHA:84090
HP:0012210	Abnormal renal morphology	10677	AVIL	OMIM:618594
HP:0012210	Abnormal renal morphology	100	ADA	OMIM:102700
HP:0012210	Abnormal renal morphology	79693	YRDC	OMIM:619609
HP:0012210	Abnormal renal morphology	11222	MRPL3	OMIM:614582
HP:0012210	Abnormal renal morphology	50943	FOXP3	ORPHA:37042
HP:0012210	Abnormal renal morphology	1801	DPH1	OMIM:616901
HP:0012210	Abnormal renal morphology	1801	DPH1	ORPHA:459061
HP:0012210	Abnormal renal morphology	7840	ALMS1	OMIM:203800
HP:0012210	Abnormal renal morphology	4594	MMUT	OMIM:251000
HP:0012210	Abnormal renal morphology	83480	PUS3	ORPHA:488627
HP:0012210	Abnormal renal morphology	55764	IFT122	OMIM:218330
HP:0012210	Abnormal renal morphology	1802	DPH2	ORPHA:459061
HP:0012210	Abnormal renal morphology	6559	SLC12A3	ORPHA:358
HP:0012210	Abnormal renal morphology	617	BCS1L	OMIM:124000
HP:0012210	Abnormal renal morphology	57167	SALL4	ORPHA:959
HP:0012210	Abnormal renal morphology	57167	SALL4	OMIM:607323
HP:0012210	Abnormal renal morphology	6664	SOX11	OMIM:615866
HP:0012210	Abnormal renal morphology	9939	RBM8A	OMIM:274000
HP:0012210	Abnormal renal morphology	64220	STRA6	OMIM:601186
HP:0012210	Abnormal renal morphology	54914	FOCAD	OMIM:619991
HP:0012210	Abnormal renal morphology	7468	NSD2	OMIM:619695
HP:0012210	Abnormal renal morphology	6091	ROBO1	OMIM:620305
HP:0012210	Abnormal renal morphology	10015	PDCD6IP	OMIM:620047
HP:0012210	Abnormal renal morphology	81	ACTN4	OMIM:603278
HP:0012210	Abnormal renal morphology	29071	C1GALT1C1	OMIM:301110
HP:0012210	Abnormal renal morphology	100147744	RNU7-1	OMIM:619487
HP:0012210	Abnormal renal morphology	57511	COG6	OMIM:614576
HP:0012210	Abnormal renal morphology	54938	SARS2	OMIM:613845
HP:0012210	Abnormal renal morphology	93649	MYOCD	OMIM:618719
HP:0012210	Abnormal renal morphology	1286	COL4A4	OMIM:203780
HP:0012210	Abnormal renal morphology	1287	COL4A5	OMIM:301050
HP:0012210	Abnormal renal morphology	977	CD151	OMIM:609057
HP:0012210	Abnormal renal morphology	10568	SLC34A2	ORPHA:60025
HP:0012210	Abnormal renal morphology	5718	PSMD12	OMIM:617516
HP:0012210	Abnormal renal morphology	25914	RTTN	ORPHA:468631
HP:0012210	Abnormal renal morphology	8802	SUCLG1	ORPHA:17
HP:0012210	Abnormal renal morphology	84992	PIGY	OMIM:616809
HP:0012210	Abnormal renal morphology	3075	CFH	OMIM:609814
HP:0012210	Abnormal renal morphology	7428	VHL	ORPHA:892
HP:0012210	Abnormal renal morphology	7428	VHL	OMIM:193300
HP:0012210	Abnormal renal morphology	595	CCND1	ORPHA:892
HP:0012210	Abnormal renal morphology	595	CCND1	OMIM:193300
HP:0012210	Abnormal renal morphology	92482	BBIP1	ORPHA:110
HP:0012210	Abnormal renal morphology	11020	IFT27	ORPHA:110
HP:0012210	Abnormal renal morphology	582	BBS1	ORPHA:110
HP:0012210	Abnormal renal morphology	49855	SCAPER	ORPHA:110
HP:0012210	Abnormal renal morphology	51057	WDPCP	ORPHA:110
HP:0012210	Abnormal renal morphology	132320	SCLT1	ORPHA:110
HP:0012210	Abnormal renal morphology	27241	BBS9	ORPHA:110
HP:0012210	Abnormal renal morphology	84984	CEP19	ORPHA:110
HP:0012210	Abnormal renal morphology	22954	TRIM32	ORPHA:110
HP:0012210	Abnormal renal morphology	26160	IFT172	ORPHA:110
HP:0012210	Abnormal renal morphology	55212	BBS7	ORPHA:110
HP:0012210	Abnormal renal morphology	157657	CFAP418	ORPHA:110
HP:0012210	Abnormal renal morphology	84100	ARL6	ORPHA:110
HP:0012210	Abnormal renal morphology	129880	BBS5	ORPHA:110
HP:0012210	Abnormal renal morphology	80173	IFT74	ORPHA:110
HP:0012210	Abnormal renal morphology	2137	EXTL3	OMIM:617425
HP:0012210	Abnormal renal morphology	6794	STK11	ORPHA:2869
HP:0012210	Abnormal renal morphology	11231	SEC63	ORPHA:2924
HP:0012210	Abnormal renal morphology	8449	DHX16	OMIM:618733
HP:0012210	Abnormal renal morphology	51339	DACT1	ORPHA:857
HP:0012210	Abnormal renal morphology	1186	CLCN7	OMIM:618541
HP:0012210	Abnormal renal morphology	54	ACP5	OMIM:607944
HP:0012210	Abnormal renal morphology	5800	PTPRO	OMIM:614196
HP:0012210	Abnormal renal morphology	137682	NDUFAF6	OMIM:618913
HP:0012210	Abnormal renal morphology	2632	GBE1	OMIM:232500
HP:0012210	Abnormal renal morphology	284252	KCTD1	ORPHA:2036
HP:0012210	Abnormal renal morphology	388662	SLC6A17	ORPHA:457212
HP:0012210	Abnormal renal morphology	5978	REST	ORPHA:654
HP:0012210	Abnormal renal morphology	9319	TRIP13	ORPHA:654
HP:0012210	Abnormal renal morphology	10155	TRIM28	ORPHA:654
HP:0012210	Abnormal renal morphology	11281	POU6F2	ORPHA:654
HP:0012210	Abnormal renal morphology	283120	H19	ORPHA:654
HP:0012210	Abnormal renal morphology	11274	USP18	OMIM:617397
HP:0012210	Abnormal renal morphology	1314	COPA	OMIM:616414
HP:0012210	Abnormal renal morphology	1636	ACE	OMIM:267430
HP:0012210	Abnormal renal morphology	183	AGT	OMIM:267430
HP:0012210	Abnormal renal morphology	185	AGTR1	OMIM:267430
HP:0012210	Abnormal renal morphology	26873	OPLAH	OMIM:260005
HP:0012210	Abnormal renal morphology	55811	ADCY10	ORPHA:2197
HP:0012210	Abnormal renal morphology	55811	ADCY10	OMIM:143870
HP:0012210	Abnormal renal morphology	51256	TBC1D7	OMIM:248000
HP:0012210	Abnormal renal morphology	153201	SLC36A2	OMIM:138500
HP:0012210	Abnormal renal morphology	27238	GPKOW	ORPHA:2570
HP:0012210	Abnormal renal morphology	341640	FREM2	ORPHA:2052
HP:0012210	Abnormal renal morphology	80144	FRAS1	ORPHA:2052
HP:0012210	Abnormal renal morphology	80144	FRAS1	OMIM:219000
HP:0012210	Abnormal renal morphology	23426	GRIP1	ORPHA:2052
HP:0012210	Abnormal renal morphology	3975	LHX1	ORPHA:261265
HP:0012210	Abnormal renal morphology	54880	BCOR	OMIM:309800
HP:0012210	Abnormal renal morphology	54880	BCOR	ORPHA:568
HP:0012210	Abnormal renal morphology	64840	PORCN	ORPHA:2092
HP:0012210	Abnormal renal morphology	1718	DHCR24	ORPHA:35107
HP:0012210	Abnormal renal morphology	54101	RIPK4	ORPHA:1234
HP:0012210	Abnormal renal morphology	2314	FLII	ORPHA:819
HP:0012210	Abnormal renal morphology	23096	IQSEC2	ORPHA:819
HP:0012210	Abnormal renal morphology	10522	DEAF1	ORPHA:819
HP:0012210	Abnormal renal morphology	4038	LRP4	ORPHA:3258
HP:0012210	Abnormal renal morphology	324	APC	ORPHA:3258
HP:0012210	Abnormal renal morphology	10225	CD96	ORPHA:1308
HP:0012210	Abnormal renal morphology	10262	SF3B4	ORPHA:1788
HP:0012210	Abnormal renal morphology	10210	TOPORS	ORPHA:2754
HP:0012210	Abnormal renal morphology	9851	KIAA0753	ORPHA:2754
HP:0012210	Abnormal renal morphology	5147	PDE6D	ORPHA:2754
HP:0012210	Abnormal renal morphology	8481	OFD1	ORPHA:2754
HP:0012210	Abnormal renal morphology	317662	FAM149B1	ORPHA:2754
HP:0012210	Abnormal renal morphology	374654	KIF7	ORPHA:2754
HP:0012210	Abnormal renal morphology	5566	PRKACA	ORPHA:289
HP:0012210	Abnormal renal morphology	5567	PRKACB	ORPHA:289
HP:0012210	Abnormal renal morphology	2735	GLI1	ORPHA:289
HP:0012210	Abnormal renal morphology	2121	EVC	ORPHA:289
HP:0012210	Abnormal renal morphology	51626	DYNC2LI1	ORPHA:289
HP:0012210	Abnormal renal morphology	132884	EVC2	ORPHA:289
HP:0012210	Abnormal renal morphology	9573	GDF3	ORPHA:2345
HP:0012210	Abnormal renal morphology	392255	GDF6	ORPHA:2345
HP:0012210	Abnormal renal morphology	4222	MEOX1	ORPHA:2345
HP:0012210	Abnormal renal morphology	54796	BNC2	ORPHA:93110
HP:0012210	Abnormal renal morphology	2811	GP1BA	ORPHA:274
HP:0012210	Abnormal renal morphology	2812	GP1BB	ORPHA:274
HP:0012210	Abnormal renal morphology	2815	GP9	ORPHA:274
HP:0012210	Abnormal renal morphology	2258	FGF13	OMIM:301058
HP:0012210	Abnormal renal morphology	9578	CDC42BPB	OMIM:619841
HP:0012210	Abnormal renal morphology	1182	CLCN3	OMIM:619512
HP:0012210	Abnormal renal morphology	5297	PI4KA	OMIM:616531
HP:0012210	Abnormal renal morphology	93627	TBCK	OMIM:616900
HP:0012210	Abnormal renal morphology	10472	ZBTB18	OMIM:612337
HP:0012210	Abnormal renal morphology	2294	FOXF1	OMIM:265380
HP:0012210	Abnormal renal morphology	3190	HNRNPK	OMIM:616580
HP:0012210	Abnormal renal morphology	91179	SCARF2	OMIM:600920
HP:0012210	Abnormal renal morphology	22800	RRAS2	ORPHA:648
HP:0012210	Abnormal renal morphology	867	CBL	ORPHA:648
HP:0012210	Abnormal renal morphology	8216	LZTR1	ORPHA:648
HP:0012210	Abnormal renal morphology	6016	RIT1	ORPHA:648
HP:0012210	Abnormal renal morphology	6237	RRAS	ORPHA:648
HP:0012210	Abnormal renal morphology	22808	MRAS	ORPHA:648
HP:0012210	Abnormal renal morphology	3845	KRAS	ORPHA:648
HP:0012210	Abnormal renal morphology	200734	SPRED2	ORPHA:648
HP:0012210	Abnormal renal morphology	4893	NRAS	ORPHA:648
HP:0012210	Abnormal renal morphology	6654	SOS1	ORPHA:648
HP:0012210	Abnormal renal morphology	6655	SOS2	ORPHA:648
HP:0012210	Abnormal renal morphology	5922	RASA2	ORPHA:648
HP:0012210	Abnormal renal morphology	51163	DBR1	OMIM:620510
HP:0012210	Abnormal renal morphology	374879	ZNF699	OMIM:619488
HP:0012210	Abnormal renal morphology	4174	MCM5	OMIM:617564
HP:0012210	Abnormal renal morphology	2271	FH	OMIM:606812
HP:0012210	Abnormal renal morphology	10149	ADGRG2	ORPHA:48
HP:0012210	Abnormal renal morphology	1080	CFTR	ORPHA:48
HP:0012210	Abnormal renal morphology	11146	GLMN	ORPHA:83454
HP:0012210	Abnormal renal morphology	583	BBS2	OMIM:616562
HP:0012210	Abnormal renal morphology	6928	HNF1B	OMIM:137920
HP:0012210	Abnormal renal morphology	10743	RAI1	OMIM:182290
HP:0012210	Abnormal renal morphology	10743	RAI1	ORPHA:477817
HP:0012210	Abnormal renal morphology	7355	SLC35A2	ORPHA:356961
HP:0012210	Abnormal renal morphology	201163	FLCN	OMIM:610883
HP:0012210	Abnormal renal morphology	672	BRCA1	ORPHA:84
HP:0012210	Abnormal renal morphology	10459	MAD2L2	ORPHA:84
HP:0012210	Abnormal renal morphology	7516	XRCC2	ORPHA:84
HP:0012210	Abnormal renal morphology	29089	UBE2T	ORPHA:84
HP:0012210	Abnormal renal morphology	675	BRCA2	ORPHA:84
HP:0012210	Abnormal renal morphology	55120	FANCL	ORPHA:84
HP:0012210	Abnormal renal morphology	2177	FANCD2	ORPHA:84
HP:0012210	Abnormal renal morphology	2175	FANCA	ORPHA:84
HP:0012210	Abnormal renal morphology	2175	FANCA	OMIM:227650
HP:0012210	Abnormal renal morphology	2187	FANCB	ORPHA:84
HP:0012210	Abnormal renal morphology	2176	FANCC	ORPHA:84
HP:0012210	Abnormal renal morphology	2178	FANCE	ORPHA:84
HP:0012210	Abnormal renal morphology	2188	FANCF	ORPHA:84
HP:0012210	Abnormal renal morphology	2189	FANCG	ORPHA:84
HP:0012210	Abnormal renal morphology	5888	RAD51	ORPHA:84
HP:0012210	Abnormal renal morphology	5889	RAD51C	ORPHA:84
HP:0012210	Abnormal renal morphology	55159	RFWD3	ORPHA:84
HP:0012210	Abnormal renal morphology	83990	BRIP1	ORPHA:84
HP:0012210	Abnormal renal morphology	57697	FANCM	ORPHA:84
HP:0012210	Abnormal renal morphology	79728	PALB2	ORPHA:84
HP:0012210	Abnormal renal morphology	84464	SLX4	ORPHA:84
HP:0012210	Abnormal renal morphology	2072	ERCC4	ORPHA:84
HP:0012210	Abnormal renal morphology	55215	FANCI	ORPHA:84
HP:0012210	Abnormal renal morphology	55215	FANCI	OMIM:609053
HP:0012210	Abnormal renal morphology	4763	NF1	ORPHA:363700
HP:0012210	Abnormal renal morphology	2263	FGFR2	OMIM:207410
HP:0012210	Abnormal renal morphology	5447	POR	OMIM:207410
HP:0012210	Abnormal renal morphology	55690	PACS1	ORPHA:329224
HP:0012210	Abnormal renal morphology	65250	CPLANE1	OMIM:614615
HP:0012210	Abnormal renal morphology	5053	PAH	ORPHA:2209
HP:0012210	Abnormal renal morphology	2006	ELN	OMIM:194050
HP:0012210	Abnormal renal morphology	51085	MLXIPL	OMIM:194050
HP:0012210	Abnormal renal morphology	9126	SMC3	OMIM:610759
HP:0012210	Abnormal renal morphology	55650	PIGV	OMIM:239300
HP:0012210	Abnormal renal morphology	10916	MAGED2	OMIM:300971
HP:0012210	Abnormal renal morphology	79989	IFT56	OMIM:619534
HP:0012210	Abnormal renal morphology	5442	POLRMT	OMIM:619743
HP:0012210	Abnormal renal morphology	113179	ADAT3	ORPHA:363528
HP:0012210	Abnormal renal morphology	8074	FGF23	OMIM:617993
HP:0012210	Abnormal renal morphology	1861	TOR1A	OMIM:618947
HP:0012210	Abnormal renal morphology	78987	CRELD1	OMIM:620771
HP:0012210	Abnormal renal morphology	5580	PRKCD	OMIM:615559
HP:0012210	Abnormal renal morphology	3716	JAK1	OMIM:618999
HP:0012210	Abnormal renal morphology	25959	KANK2	OMIM:617783
HP:0012210	Abnormal renal morphology	7535	ZAP70	OMIM:617006
HP:0012210	Abnormal renal morphology	10092	ARPC5	OMIM:620565
HP:0012210	Abnormal renal morphology	6651	SON	ORPHA:500150
HP:0012210	Abnormal renal morphology	5361	PLXNA1	OMIM:619955
HP:0012210	Abnormal renal morphology	26005	C2CD3	OMIM:615948
HP:0012210	Abnormal renal morphology	8367	H4C5	OMIM:619950
HP:0012210	Abnormal renal morphology	1063	CENPF	OMIM:243605
HP:0012210	Abnormal renal morphology	57178	ZMIZ1	OMIM:618659
HP:0012210	Abnormal renal morphology	51473	DCDC2	ORPHA:84081
HP:0012210	Abnormal renal morphology	5081	PAX7	OMIM:618578
HP:0012210	Abnormal renal morphology	9935	MAFB	OMIM:166300
HP:0012210	Abnormal renal morphology	9361	LONP1	ORPHA:79243
HP:0012210	Abnormal renal morphology	5160	PDHA1	ORPHA:79243
HP:0012210	Abnormal renal morphology	403	ARL3	OMIM:618161
HP:0012210	Abnormal renal morphology	57104	PNPLA2	ORPHA:565612
HP:0012210	Abnormal renal morphology	254428	SLC41A1	OMIM:619468
HP:0012210	Abnormal renal morphology	3913	LAMB2	OMIM:614199
HP:0012210	Abnormal renal morphology	2934	GSN	OMIM:105120
HP:0012210	Abnormal renal morphology	23500	DAAM2	OMIM:619263
HP:0012210	Abnormal renal morphology	2212	FCGR2A	OMIM:152700
HP:0012210	Abnormal renal morphology	2213	FCGR2B	OMIM:152700
HP:0012210	Abnormal renal morphology	2213	FCGR2B	ORPHA:536
HP:0012210	Abnormal renal morphology	1773	DNASE1	OMIM:152700
HP:0012210	Abnormal renal morphology	1773	DNASE1	ORPHA:536
HP:0012210	Abnormal renal morphology	2215	FCGR3B	ORPHA:536
HP:0012210	Abnormal renal morphology	3684	ITGAM	ORPHA:536
HP:0012210	Abnormal renal morphology	221895	JAZF1	ORPHA:536
HP:0012210	Abnormal renal morphology	7292	TNFSF4	ORPHA:536
HP:0012210	Abnormal renal morphology	55024	BANK1	ORPHA:536
HP:0012210	Abnormal renal morphology	3500	IGHG1	ORPHA:536
HP:0012210	Abnormal renal morphology	3654	IRAK1	ORPHA:536
HP:0012210	Abnormal renal morphology	1380	CR2	ORPHA:536
HP:0012210	Abnormal renal morphology	5133	PDCD1	ORPHA:536
HP:0012210	Abnormal renal morphology	2113	ETS1	ORPHA:536
HP:0012210	Abnormal renal morphology	10318	TNIP1	ORPHA:536
HP:0012210	Abnormal renal morphology	7332	UBE2L3	ORPHA:536
HP:0012210	Abnormal renal morphology	79932	KIAA0319L	ORPHA:536
HP:0012210	Abnormal renal morphology	4204	MECP2	ORPHA:536
HP:0012210	Abnormal renal morphology	3663	IRF5	ORPHA:536
HP:0012210	Abnormal renal morphology	721	C4B	ORPHA:536
HP:0012210	Abnormal renal morphology	51284	TLR7	ORPHA:536
HP:0012210	Abnormal renal morphology	6696	SPP1	ORPHA:536
HP:0012210	Abnormal renal morphology	54899	PXK	ORPHA:536
HP:0012210	Abnormal renal morphology	7128	TNFAIP3	ORPHA:536
HP:0012210	Abnormal renal morphology	22909	FAN1	OMIM:614817
HP:0012210	Abnormal renal morphology	894	CCND2	ORPHA:83473
HP:0012210	Abnormal renal morphology	5296	PIK3R2	ORPHA:83473
HP:0012210	Abnormal renal morphology	10000	AKT3	ORPHA:83473
HP:0012210	Abnormal renal morphology	9401	RECQL4	ORPHA:1225
HP:0012210	Abnormal renal morphology	55784	MCTP2	ORPHA:1596
HP:0012210	Abnormal renal morphology	22930	RAB3GAP1	ORPHA:2510
HP:0012210	Abnormal renal morphology	25782	RAB3GAP2	ORPHA:2510
HP:0012210	Abnormal renal morphology	22931	RAB18	ORPHA:2510
HP:0012210	Abnormal renal morphology	128637	TBC1D20	ORPHA:2510
HP:0012210	Abnormal renal morphology	5781	PTPN11	ORPHA:500
HP:0012210	Abnormal renal morphology	673	BRAF	ORPHA:500
HP:0012210	Abnormal renal morphology	5894	RAF1	ORPHA:500
HP:0012210	Abnormal renal morphology	50945	TBX22	ORPHA:921
HP:0012210	Abnormal renal morphology	51322	WAC	ORPHA:466950
HP:0012210	Abnormal renal morphology	4297	KMT2A	ORPHA:319182
HP:0012210	Abnormal renal morphology	11128	POLR3A	ORPHA:3455
HP:0012210	Abnormal renal morphology	9663	LPIN2	ORPHA:77297
HP:0012210	Abnormal renal morphology	25974	MMACHC	ORPHA:79282
HP:0012210	Abnormal renal morphology	7454	WAS	ORPHA:906
HP:0012210	Abnormal renal morphology	7456	WIPF1	ORPHA:906
HP:0012210	Abnormal renal morphology	84823	LMNB2	ORPHA:79087
HP:0012210	Abnormal renal morphology	1776	DNASE1L3	ORPHA:36412
HP:0012210	Abnormal renal morphology	23630	KCNE5	ORPHA:86818
HP:0012210	Abnormal renal morphology	2182	ACSL4	ORPHA:86818
HP:0012210	Abnormal renal morphology	4552	MTRR	ORPHA:2169
HP:0012210	Abnormal renal morphology	950	SCARB2	OMIM:254900
HP:0012210	Abnormal renal morphology	4000	LMNA	ORPHA:2348
HP:0012210	Abnormal renal morphology	129563	DIS3L2	OMIM:267000
HP:0012210	Abnormal renal morphology	4867	NPHP1	OMIM:609583
HP:0012213	Decreased glomerular filtration rate	1534	CYB561	OMIM:618182
HP:0012213	Decreased glomerular filtration rate	51726	DNAJB11	OMIM:618061
HP:0012213	Decreased glomerular filtration rate	51726	DNAJB11	ORPHA:730
HP:0012213	Decreased glomerular filtration rate	23193	GANAB	ORPHA:730
HP:0012213	Decreased glomerular filtration rate	5310	PKD1	ORPHA:730
HP:0012213	Decreased glomerular filtration rate	5311	PKD2	ORPHA:730
HP:0012213	Decreased glomerular filtration rate	29880	ALG5	ORPHA:730
HP:0012213	Decreased glomerular filtration rate	9742	IFT140	ORPHA:730
HP:0012213	Decreased glomerular filtration rate	79796	ALG9	ORPHA:730
HP:0012213	Decreased glomerular filtration rate	80114	BICC1	ORPHA:730
HP:0012213	Decreased glomerular filtration rate	9056	SLC7A7	ORPHA:470
HP:0012213	Decreased glomerular filtration rate	7369	UMOD	OMIM:162000
HP:0012213	Decreased glomerular filtration rate	1187	CLCNKA	OMIM:613090
HP:0012213	Decreased glomerular filtration rate	1188	CLCNKB	OMIM:613090
HP:0012213	Decreased glomerular filtration rate	5076	PAX2	ORPHA:97362
HP:0012213	Decreased glomerular filtration rate	5087	PBX1	ORPHA:97362
HP:0012213	Decreased glomerular filtration rate	29927	SEC61A1	OMIM:617056
HP:0012213	Decreased glomerular filtration rate	2538	G6PC1	OMIM:232200
HP:0012213	Decreased glomerular filtration rate	3081	HGD	OMIM:203500
HP:0012213	Decreased glomerular filtration rate	56606	SLC2A9	ORPHA:94088
HP:0012213	Decreased glomerular filtration rate	116085	SLC22A12	ORPHA:94088
HP:0012213	Decreased glomerular filtration rate	3675	ITGA3	OMIM:614748
HP:0012213	Decreased glomerular filtration rate	51816	ADA2	ORPHA:820
HP:0012213	Decreased glomerular filtration rate	2542	SLC37A4	OMIM:232220
HP:0012213	Decreased glomerular filtration rate	2542	SLC37A4	OMIM:232240
HP:0012213	Decreased glomerular filtration rate	83480	PUS3	ORPHA:488627
HP:0012213	Decreased glomerular filtration rate	189	AGXT	ORPHA:93598
HP:0012213	Decreased glomerular filtration rate	846	CASR	OMIM:601198
HP:0012213	Decreased glomerular filtration rate	7809	BSND	OMIM:602522
HP:0012213	Decreased glomerular filtration rate	6569	SLC34A1	OMIM:613388
HP:0012213	Decreased glomerular filtration rate	4582	MUC1	OMIM:174000
HP:0012215	Testicular microlithiasis	10568	SLC34A2	ORPHA:60025
HP:0012215	Testicular microlithiasis	3972	LHB	OMIM:228300
HP:0012217	Increased urinary porphobilinogen	5498	PPOX	OMIM:176200
HP:0012217	Increased urinary porphobilinogen	5498	PPOX	ORPHA:79473
HP:0012217	Increased urinary porphobilinogen	1371	CPOX	ORPHA:79273
HP:0012217	Increased urinary porphobilinogen	1371	CPOX	OMIM:121300
HP:0012217	Increased urinary porphobilinogen	1371	CPOX	OMIM:618892
HP:0012217	Increased urinary porphobilinogen	210	ALAD	ORPHA:100924
HP:0012217	Increased urinary porphobilinogen	3145	HMBS	ORPHA:79276
HP:0012217	Increased urinary porphobilinogen	7390	UROS	ORPHA:79277
HP:0012217	Increased urinary porphobilinogen	2623	GATA1	ORPHA:79277
HP:0012218	Alveolar soft part sarcoma	79058	ASPSCR1	OMIM:606243
HP:0012219	Erythema nodosum	3930	LBR	OMIM:613471
HP:0012219	Erythema nodosum	331	XIAP	OMIM:300635
HP:0012219	Erythema nodosum	331	XIAP	ORPHA:538934
HP:0012219	Erythema nodosum	5295	PIK3R1	OMIM:615214
HP:0012219	Erythema nodosum	56244	BTNL2	OMIM:612387
HP:0012219	Erythema nodosum	56244	BTNL2	ORPHA:797
HP:0012219	Erythema nodosum	987	LRBA	OMIM:614700
HP:0012219	Erythema nodosum	3593	IL12B	ORPHA:3287
HP:0012219	Erythema nodosum	3106	HLA-B	ORPHA:3287
HP:0012219	Erythema nodosum	3106	HLA-B	ORPHA:29207
HP:0012219	Erythema nodosum	3106	HLA-B	ORPHA:117
HP:0012219	Erythema nodosum	6945	MLX	ORPHA:3287
HP:0012219	Erythema nodosum	64127	NOD2	ORPHA:90340
HP:0012219	Erythema nodosum	64127	NOD2	OMIM:186580
HP:0012219	Erythema nodosum	51816	ADA2	OMIM:615688
HP:0012219	Erythema nodosum	91662	NLRP12	OMIM:611762
HP:0012219	Erythema nodosum	5696	PSMB8	OMIM:256040
HP:0012219	Erythema nodosum	3123	HLA-DRB1	ORPHA:797
HP:0012219	Erythema nodosum	149233	IL23R	ORPHA:117
HP:0012219	Erythema nodosum	6775	STAT4	ORPHA:117
HP:0012219	Erythema nodosum	3586	IL10	ORPHA:117
HP:0012219	Erythema nodosum	4210	MEFV	ORPHA:117
HP:0012219	Erythema nodosum	1230	CCR1	ORPHA:117
HP:0012219	Erythema nodosum	355	FAS	ORPHA:117
HP:0012219	Erythema nodosum	3592	IL12A	ORPHA:117
HP:0012219	Erythema nodosum	101928376	IL12A-AS1	ORPHA:117
HP:0012219	Erythema nodosum	7099	TLR4	ORPHA:117
HP:0012219	Erythema nodosum	3459	IFNGR1	ORPHA:117
HP:0012219	Erythema nodosum	720	C4A	ORPHA:117
HP:0012219	Erythema nodosum	337867	UBAC2	ORPHA:117
HP:0012219	Erythema nodosum	51752	ERAP1	ORPHA:117
HP:0012219	Erythema nodosum	8302	KLRC4	ORPHA:117
HP:0012211	Abnormal renal physiology	26191	PTPN22	ORPHA:397
HP:0012211	Abnormal renal physiology	26191	PTPN22	ORPHA:900
HP:0012211	Abnormal renal physiology	3106	HLA-B	ORPHA:397
HP:0012211	Abnormal renal physiology	3106	HLA-B	ORPHA:117
HP:0012211	Abnormal renal physiology	3106	HLA-B	ORPHA:36426
HP:0012211	Abnormal renal physiology	3123	HLA-DRB1	ORPHA:397
HP:0012211	Abnormal renal physiology	3123	HLA-DRB1	ORPHA:797
HP:0012211	Abnormal renal physiology	3123	HLA-DRB1	ORPHA:220393
HP:0012211	Abnormal renal physiology	8974	P4HA2	ORPHA:397
HP:0012211	Abnormal renal physiology	51726	DNAJB11	OMIM:618061
HP:0012211	Abnormal renal physiology	51726	DNAJB11	ORPHA:730
HP:0012211	Abnormal renal physiology	4594	MMUT	ORPHA:289916
HP:0012211	Abnormal renal physiology	4594	MMUT	ORPHA:79312
HP:0012211	Abnormal renal physiology	1497	CTNS	OMIM:219800
HP:0012211	Abnormal renal physiology	1497	CTNS	ORPHA:411634
HP:0012211	Abnormal renal physiology	355	FAS	ORPHA:3261
HP:0012211	Abnormal renal physiology	355	FAS	ORPHA:117
HP:0012211	Abnormal renal physiology	356	FASLG	ORPHA:3261
HP:0012211	Abnormal renal physiology	843	CASP10	ORPHA:3261
HP:0012211	Abnormal renal physiology	9860	LRIG2	OMIM:615112
HP:0012211	Abnormal renal physiology	9860	LRIG2	ORPHA:2704
HP:0012211	Abnormal renal physiology	4010	LMX1B	ORPHA:2613
HP:0012211	Abnormal renal physiology	4010	LMX1B	ORPHA:2614
HP:0012211	Abnormal renal physiology	4010	LMX1B	OMIM:161200
HP:0012211	Abnormal renal physiology	4010	LMX1B	OMIM:256020
HP:0012211	Abnormal renal physiology	1161	ERCC8	ORPHA:90324
HP:0012211	Abnormal renal physiology	1161	ERCC8	ORPHA:90321
HP:0012211	Abnormal renal physiology	1161	ERCC8	OMIM:216400
HP:0012211	Abnormal renal physiology	2074	ERCC6	ORPHA:90324
HP:0012211	Abnormal renal physiology	2074	ERCC6	ORPHA:90321
HP:0012211	Abnormal renal physiology	2074	ERCC6	OMIM:133540
HP:0012211	Abnormal renal physiology	5631	PRPS1	ORPHA:411543
HP:0012211	Abnormal renal physiology	5631	PRPS1	ORPHA:411536
HP:0012211	Abnormal renal physiology	5631	PRPS1	OMIM:300661
HP:0012211	Abnormal renal physiology	57539	WDR35	OMIM:613610
HP:0012211	Abnormal renal physiology	3209	HOXA13	OMIM:140000
HP:0012211	Abnormal renal physiology	84942	WDR73	OMIM:251300
HP:0012211	Abnormal renal physiology	84942	WDR73	ORPHA:83472
HP:0012211	Abnormal renal physiology	1131	CHRM3	ORPHA:2970
HP:0012211	Abnormal renal physiology	1184	CLCN5	OMIM:308990
HP:0012211	Abnormal renal physiology	1184	CLCN5	OMIM:300009
HP:0012211	Abnormal renal physiology	1184	CLCN5	OMIM:300554
HP:0012211	Abnormal renal physiology	1184	CLCN5	OMIM:310468
HP:0012211	Abnormal renal physiology	81839	VANGL1	ORPHA:3027
HP:0012211	Abnormal renal physiology	80199	FUZ	ORPHA:3027
HP:0012211	Abnormal renal physiology	91147	TMEM67	OMIM:602152
HP:0012211	Abnormal renal physiology	91147	TMEM67	OMIM:615991
HP:0012211	Abnormal renal physiology	91147	TMEM67	ORPHA:1454
HP:0012211	Abnormal renal physiology	2072	ERCC4	ORPHA:90321
HP:0012211	Abnormal renal physiology	2072	ERCC4	ORPHA:84
HP:0012211	Abnormal renal physiology	2072	ERCC4	OMIM:610965
HP:0012211	Abnormal renal physiology	4867	NPHP1	OMIM:609583
HP:0012211	Abnormal renal physiology	4867	NPHP1	OMIM:266900
HP:0012211	Abnormal renal physiology	4867	NPHP1	ORPHA:220497
HP:0012211	Abnormal renal physiology	64324	NSD1	ORPHA:821
HP:0012211	Abnormal renal physiology	10297	APC2	ORPHA:821
HP:0012211	Abnormal renal physiology	79848	CSPP1	ORPHA:397715
HP:0012211	Abnormal renal physiology	9786	KIAA0586	ORPHA:397715
HP:0012211	Abnormal renal physiology	6519	SLC3A1	OMIM:220100
HP:0012211	Abnormal renal physiology	11136	SLC7A9	OMIM:220100
HP:0012211	Abnormal renal physiology	23607	CD2AP	OMIM:607832
HP:0012211	Abnormal renal physiology	4312	MMP1	ORPHA:79408
HP:0012211	Abnormal renal physiology	1294	COL7A1	ORPHA:79408
HP:0012211	Abnormal renal physiology	79577	CDC73	ORPHA:143
HP:0012211	Abnormal renal physiology	79577	CDC73	ORPHA:99880
HP:0012211	Abnormal renal physiology	79577	CDC73	ORPHA:99879
HP:0012211	Abnormal renal physiology	4311	MME	ORPHA:69063
HP:0012211	Abnormal renal physiology	9380	GRHPR	OMIM:260000
HP:0012211	Abnormal renal physiology	9380	GRHPR	ORPHA:93599
HP:0012211	Abnormal renal physiology	23322	RPGRIP1L	ORPHA:220497
HP:0012211	Abnormal renal physiology	23322	RPGRIP1L	ORPHA:1454
HP:0012211	Abnormal renal physiology	23322	RPGRIP1L	OMIM:619113
HP:0012211	Abnormal renal physiology	65062	TMEM237	ORPHA:220497
HP:0012211	Abnormal renal physiology	65062	TMEM237	ORPHA:2318
HP:0012211	Abnormal renal physiology	79947	DHDDS	OMIM:613861
HP:0012211	Abnormal renal physiology	9640	ZNF592	ORPHA:83472
HP:0012211	Abnormal renal physiology	10686	CLDN16	OMIM:248250
HP:0012211	Abnormal renal physiology	6523	SLC5A1	ORPHA:35710
HP:0012211	Abnormal renal physiology	9382	COG1	OMIM:611209
HP:0012211	Abnormal renal physiology	4868	NPHS1	OMIM:256300
HP:0012211	Abnormal renal physiology	55034	MOCOS	OMIM:603592
HP:0012211	Abnormal renal physiology	23193	GANAB	ORPHA:730
HP:0012211	Abnormal renal physiology	5310	PKD1	ORPHA:730
HP:0012211	Abnormal renal physiology	5310	PKD1	OMIM:173900
HP:0012211	Abnormal renal physiology	5311	PKD2	ORPHA:730
HP:0012211	Abnormal renal physiology	5311	PKD2	OMIM:613095
HP:0012211	Abnormal renal physiology	29880	ALG5	ORPHA:730
HP:0012211	Abnormal renal physiology	29880	ALG5	OMIM:620056
HP:0012211	Abnormal renal physiology	9742	IFT140	ORPHA:730
HP:0012211	Abnormal renal physiology	9742	IFT140	ORPHA:474
HP:0012211	Abnormal renal physiology	79796	ALG9	ORPHA:730
HP:0012211	Abnormal renal physiology	80114	BICC1	ORPHA:730
HP:0012211	Abnormal renal physiology	80114	BICC1	OMIM:601331
HP:0012211	Abnormal renal physiology	9071	CLDN10	OMIM:617671
HP:0012211	Abnormal renal physiology	81693	AMN	OMIM:618882
HP:0012211	Abnormal renal physiology	3043	HBB	OMIM:603903
HP:0012211	Abnormal renal physiology	8029	CUBN	OMIM:618884
HP:0012211	Abnormal renal physiology	2859	GPR35	ORPHA:171
HP:0012211	Abnormal renal physiology	10507	SEMA4D	ORPHA:171
HP:0012211	Abnormal renal physiology	4485	MST1	ORPHA:171
HP:0012211	Abnormal renal physiology	6925	TCF4	ORPHA:171
HP:0012211	Abnormal renal physiology	54757	FAM20A	OMIM:204690
HP:0012211	Abnormal renal physiology	54757	FAM20A	ORPHA:1031
HP:0012211	Abnormal renal physiology	353	APRT	OMIM:614723
HP:0012211	Abnormal renal physiology	353	APRT	ORPHA:976
HP:0012211	Abnormal renal physiology	412	STS	ORPHA:281090
HP:0012211	Abnormal renal physiology	7840	ALMS1	OMIM:203800
HP:0012211	Abnormal renal physiology	672	BRCA1	ORPHA:84
HP:0012211	Abnormal renal physiology	10459	MAD2L2	ORPHA:84
HP:0012211	Abnormal renal physiology	7516	XRCC2	ORPHA:84
HP:0012211	Abnormal renal physiology	29089	UBE2T	ORPHA:84
HP:0012211	Abnormal renal physiology	675	BRCA2	ORPHA:84
HP:0012211	Abnormal renal physiology	55120	FANCL	ORPHA:84
HP:0012211	Abnormal renal physiology	2177	FANCD2	ORPHA:84
HP:0012211	Abnormal renal physiology	2175	FANCA	ORPHA:84
HP:0012211	Abnormal renal physiology	2187	FANCB	ORPHA:84
HP:0012211	Abnormal renal physiology	2176	FANCC	ORPHA:84
HP:0012211	Abnormal renal physiology	2178	FANCE	ORPHA:84
HP:0012211	Abnormal renal physiology	2188	FANCF	ORPHA:84
HP:0012211	Abnormal renal physiology	2189	FANCG	ORPHA:84
HP:0012211	Abnormal renal physiology	5888	RAD51	ORPHA:84
HP:0012211	Abnormal renal physiology	5889	RAD51C	ORPHA:84
HP:0012211	Abnormal renal physiology	55159	RFWD3	ORPHA:84
HP:0012211	Abnormal renal physiology	83990	BRIP1	ORPHA:84
HP:0012211	Abnormal renal physiology	57697	FANCM	ORPHA:84
HP:0012211	Abnormal renal physiology	79728	PALB2	ORPHA:84
HP:0012211	Abnormal renal physiology	84464	SLX4	ORPHA:84
HP:0012211	Abnormal renal physiology	55215	FANCI	ORPHA:84
HP:0012211	Abnormal renal physiology	6899	TBX1	OMIM:188400
HP:0012211	Abnormal renal physiology	1175	AP2S1	OMIM:600740
HP:0012211	Abnormal renal physiology	203286	ANKS6	OMIM:615382
HP:0012211	Abnormal renal physiology	5224	PGAM2	OMIM:261670
HP:0012211	Abnormal renal physiology	60495	HPSE2	ORPHA:2704
HP:0012211	Abnormal renal physiology	950	SCARB2	OMIM:254900
HP:0012211	Abnormal renal physiology	9096	TBX18	OMIM:143400
HP:0012211	Abnormal renal physiology	5230	PGK1	ORPHA:713
HP:0012211	Abnormal renal physiology	5230	PGK1	OMIM:300653
HP:0012211	Abnormal renal physiology	3265	HRAS	OMIM:218040
HP:0012211	Abnormal renal physiology	5080	PAX6	OMIM:194072
HP:0012211	Abnormal renal physiology	7490	WT1	OMIM:194072
HP:0012211	Abnormal renal physiology	7490	WT1	ORPHA:347
HP:0012211	Abnormal renal physiology	7490	WT1	OMIM:256370
HP:0012211	Abnormal renal physiology	54345	SOX18	OMIM:137940
HP:0012211	Abnormal renal physiology	9851	KIAA0753	ORPHA:474
HP:0012211	Abnormal renal physiology	55112	DYNC2I1	ORPHA:474
HP:0012211	Abnormal renal physiology	26160	IFT172	ORPHA:474
HP:0012211	Abnormal renal physiology	153241	CEP120	ORPHA:474
HP:0012211	Abnormal renal physiology	57560	IFT80	ORPHA:474
HP:0012211	Abnormal renal physiology	51626	DYNC2LI1	ORPHA:474
HP:0012211	Abnormal renal physiology	79659	DYNC2H1	ORPHA:474
HP:0012211	Abnormal renal physiology	57728	WDR19	ORPHA:474
HP:0012211	Abnormal renal physiology	89891	DYNC2I2	ORPHA:474
HP:0012211	Abnormal renal physiology	79809	TTC21B	ORPHA:474
HP:0012211	Abnormal renal physiology	1187	CLCNKA	OMIM:613090
HP:0012211	Abnormal renal physiology	1188	CLCNKB	OMIM:613090
HP:0012211	Abnormal renal physiology	5314	PKHD1	OMIM:263200
HP:0012211	Abnormal renal physiology	5314	PKHD1	ORPHA:731
HP:0012211	Abnormal renal physiology	114548	NLRP3	OMIM:191900
HP:0012211	Abnormal renal physiology	10908	PNPLA6	ORPHA:2377
HP:0012211	Abnormal renal physiology	2321	FLT1	ORPHA:275555
HP:0012211	Abnormal renal physiology	219736	STOX1	ORPHA:275555
HP:0012211	Abnormal renal physiology	10699	CORIN	ORPHA:275555
HP:0012211	Abnormal renal physiology	1282	COL4A1	ORPHA:73229
HP:0012211	Abnormal renal physiology	1282	COL4A1	OMIM:611773
HP:0012211	Abnormal renal physiology	6804	STX1A	ORPHA:904
HP:0012211	Abnormal renal physiology	7461	CLIP2	ORPHA:904
HP:0012211	Abnormal renal physiology	84277	DNAJC30	ORPHA:904
HP:0012211	Abnormal renal physiology	8468	FKBP6	ORPHA:904
HP:0012211	Abnormal renal physiology	5982	RFC2	ORPHA:904
HP:0012211	Abnormal renal physiology	2969	GTF2I	ORPHA:904
HP:0012211	Abnormal renal physiology	3984	LIMK1	ORPHA:904
HP:0012211	Abnormal renal physiology	9569	GTF2IRD1	ORPHA:904
HP:0012211	Abnormal renal physiology	155382	VPS37D	ORPHA:904
HP:0012211	Abnormal renal physiology	155368	METTL27	ORPHA:904
HP:0012211	Abnormal renal physiology	114049	BUD23	ORPHA:904
HP:0012211	Abnormal renal physiology	7458	EIF4H	ORPHA:904
HP:0012211	Abnormal renal physiology	84163	GTF2IRD2	ORPHA:904
HP:0012211	Abnormal renal physiology	26608	TBL2	ORPHA:904
HP:0012211	Abnormal renal physiology	653361	NCF1	ORPHA:904
HP:0012211	Abnormal renal physiology	135886	TMEM270	ORPHA:904
HP:0012211	Abnormal renal physiology	9031	BAZ1B	ORPHA:904
HP:0012211	Abnormal renal physiology	2006	ELN	ORPHA:904
HP:0012211	Abnormal renal physiology	2006	ELN	OMIM:194050
HP:0012211	Abnormal renal physiology	718	C3	OMIM:613779
HP:0012211	Abnormal renal physiology	1493	CTLA4	ORPHA:900
HP:0012211	Abnormal renal physiology	3115	HLA-DPB1	ORPHA:900
HP:0012211	Abnormal renal physiology	5657	PRTN3	ORPHA:900
HP:0012211	Abnormal renal physiology	3113	HLA-DPA1	ORPHA:900
HP:0012211	Abnormal renal physiology	8659	ALDH4A1	ORPHA:79101
HP:0012211	Abnormal renal physiology	3675	ITGA3	OMIM:614748
HP:0012211	Abnormal renal physiology	4952	OCRL	OMIM:309000
HP:0012211	Abnormal renal physiology	4952	OCRL	ORPHA:534
HP:0012211	Abnormal renal physiology	2138	EYA1	ORPHA:107
HP:0012211	Abnormal renal physiology	147912	SIX5	ORPHA:107
HP:0012211	Abnormal renal physiology	147912	SIX5	OMIM:610896
HP:0012211	Abnormal renal physiology	6495	SIX1	ORPHA:107
HP:0012211	Abnormal renal physiology	229	ALDOB	ORPHA:469
HP:0012211	Abnormal renal physiology	56052	ALG1	ORPHA:79327
HP:0012211	Abnormal renal physiology	554	AVPR2	ORPHA:223
HP:0012211	Abnormal renal physiology	359	AQP2	ORPHA:223
HP:0012211	Abnormal renal physiology	3931	LCAT	OMIM:245900
HP:0012211	Abnormal renal physiology	331	XIAP	ORPHA:538934
HP:0012211	Abnormal renal physiology	3251	HPRT1	OMIM:300323
HP:0012211	Abnormal renal physiology	3251	HPRT1	ORPHA:79233
HP:0012211	Abnormal renal physiology	3251	HPRT1	ORPHA:510
HP:0012211	Abnormal renal physiology	130340	AP1S3	ORPHA:247353
HP:0012211	Abnormal renal physiology	26525	IL36RN	ORPHA:247353
HP:0012211	Abnormal renal physiology	57169	ZNFX1	OMIM:619644
HP:0012211	Abnormal renal physiology	3913	LAMB2	OMIM:614199
HP:0012211	Abnormal renal physiology	6288	SAA1	ORPHA:85445
HP:0012211	Abnormal renal physiology	92002	CCNQ	ORPHA:140952
HP:0012211	Abnormal renal physiology	84033	OBSCN	ORPHA:99845
HP:0012211	Abnormal renal physiology	84033	OBSCN	OMIM:620235
HP:0012211	Abnormal renal physiology	23175	LPIN1	ORPHA:99845
HP:0012211	Abnormal renal physiology	4512	MT-CO1	ORPHA:99845
HP:0012211	Abnormal renal physiology	4514	MT-CO3	ORPHA:99845
HP:0012211	Abnormal renal physiology	1962	EHHADH	OMIM:615605
HP:0012211	Abnormal renal physiology	51085	MLXIPL	OMIM:194050
HP:0012211	Abnormal renal physiology	9968	MED12	OMIM:301068
HP:0012211	Abnormal renal physiology	7369	UMOD	OMIM:162000
HP:0012211	Abnormal renal physiology	811	CALR	ORPHA:131
HP:0012211	Abnormal renal physiology	3717	JAK2	ORPHA:131
HP:0012211	Abnormal renal physiology	2153	F5	ORPHA:131
HP:0012211	Abnormal renal physiology	79989	IFT56	OMIM:619534
HP:0012211	Abnormal renal physiology	2717	GLA	OMIM:301500
HP:0012211	Abnormal renal physiology	2717	GLA	ORPHA:324
HP:0012211	Abnormal renal physiology	10463	SLC30A9	OMIM:617595
HP:0012211	Abnormal renal physiology	2625	GATA3	ORPHA:2237
HP:0012211	Abnormal renal physiology	54916	TMEM260	OMIM:617478
HP:0012211	Abnormal renal physiology	3458	IFNG	ORPHA:805
HP:0012211	Abnormal renal physiology	7248	TSC1	ORPHA:805
HP:0012211	Abnormal renal physiology	7249	TSC2	ORPHA:805
HP:0012211	Abnormal renal physiology	2184	FAH	OMIM:276700
HP:0012211	Abnormal renal physiology	2542	SLC37A4	OMIM:232240
HP:0012211	Abnormal renal physiology	286204	CRB2	OMIM:219730
HP:0012211	Abnormal renal physiology	4615	MYD88	ORPHA:33226
HP:0012211	Abnormal renal physiology	1376	CPT2	OMIM:255110
HP:0012211	Abnormal renal physiology	1376	CPT2	OMIM:608836
HP:0012211	Abnormal renal physiology	1376	CPT2	ORPHA:228302
HP:0012211	Abnormal renal physiology	1376	CPT2	ORPHA:228308
HP:0012211	Abnormal renal physiology	4069	LYZ	OMIM:620658
HP:0012211	Abnormal renal physiology	1285	COL4A3	OMIM:620536
HP:0012211	Abnormal renal physiology	1285	COL4A3	OMIM:104200
HP:0012211	Abnormal renal physiology	27241	BBS9	OMIM:615986
HP:0012211	Abnormal renal physiology	79738	BBS10	OMIM:615987
HP:0012211	Abnormal renal physiology	2934	GSN	OMIM:105120
HP:0012211	Abnormal renal physiology	149233	IL23R	ORPHA:117
HP:0012211	Abnormal renal physiology	6775	STAT4	ORPHA:117
HP:0012211	Abnormal renal physiology	6775	STAT4	ORPHA:93552
HP:0012211	Abnormal renal physiology	3586	IL10	ORPHA:117
HP:0012211	Abnormal renal physiology	4210	MEFV	ORPHA:117
HP:0012211	Abnormal renal physiology	4210	MEFV	OMIM:134610
HP:0012211	Abnormal renal physiology	1230	CCR1	ORPHA:117
HP:0012211	Abnormal renal physiology	3592	IL12A	ORPHA:117
HP:0012211	Abnormal renal physiology	101928376	IL12A-AS1	ORPHA:117
HP:0012211	Abnormal renal physiology	7099	TLR4	ORPHA:117
HP:0012211	Abnormal renal physiology	3459	IFNGR1	ORPHA:117
HP:0012211	Abnormal renal physiology	720	C4A	ORPHA:117
HP:0012211	Abnormal renal physiology	337867	UBAC2	ORPHA:117
HP:0012211	Abnormal renal physiology	51752	ERAP1	ORPHA:117
HP:0012211	Abnormal renal physiology	8302	KLRC4	ORPHA:117
HP:0012211	Abnormal renal physiology	435	ASL	ORPHA:23
HP:0012211	Abnormal renal physiology	80184	CEP290	OMIM:615991
HP:0012211	Abnormal renal physiology	80184	CEP290	ORPHA:2318
HP:0012211	Abnormal renal physiology	92482	BBIP1	OMIM:615995
HP:0012211	Abnormal renal physiology	11020	IFT27	OMIM:615996
HP:0012211	Abnormal renal physiology	10806	SDCCAG8	OMIM:615993
HP:0012211	Abnormal renal physiology	51259	TMEM216	OMIM:608091
HP:0012211	Abnormal renal physiology	51259	TMEM216	ORPHA:2318
HP:0012211	Abnormal renal physiology	3426	CFI	OMIM:610984
HP:0012211	Abnormal renal physiology	6696	SPP1	ORPHA:93552
HP:0012211	Abnormal renal physiology	6303	SAT1	ORPHA:93552
HP:0012211	Abnormal renal physiology	3654	IRAK1	ORPHA:93552
HP:0012211	Abnormal renal physiology	79813	EHMT1	ORPHA:96147
HP:0012211	Abnormal renal physiology	84320	ACBD6	OMIM:620785
HP:0012211	Abnormal renal physiology	1776	DNASE1L3	ORPHA:36412
HP:0012211	Abnormal renal physiology	81570	CLPB	ORPHA:445038
HP:0012211	Abnormal renal physiology	6299	SALL1	OMIM:107480
HP:0012211	Abnormal renal physiology	6299	SALL1	ORPHA:857
HP:0012211	Abnormal renal physiology	5076	PAX2	ORPHA:1475
HP:0012211	Abnormal renal physiology	23729	SHPK	ORPHA:440713
HP:0012211	Abnormal renal physiology	3939	LDHA	OMIM:612933
HP:0012211	Abnormal renal physiology	1287	COL4A5	OMIM:301050
HP:0012211	Abnormal renal physiology	23005	MAPKBP1	OMIM:617271
HP:0012211	Abnormal renal physiology	10320	IKZF1	ORPHA:36426
HP:0012211	Abnormal renal physiology	486	FXYD2	OMIM:154020
HP:0012211	Abnormal renal physiology	1108	CHD4	OMIM:617159
HP:0012211	Abnormal renal physiology	4221	MEN1	ORPHA:99879
HP:0012211	Abnormal renal physiology	9247	GCM2	ORPHA:99879
HP:0012211	Abnormal renal physiology	79583	TMEM231	ORPHA:2318
HP:0012211	Abnormal renal physiology	51524	TMEM138	ORPHA:2318
HP:0012211	Abnormal renal physiology	23090	ZNF423	ORPHA:2318
HP:0012211	Abnormal renal physiology	57545	CC2D2A	ORPHA:2318
HP:0012211	Abnormal renal physiology	57545	CC2D2A	ORPHA:1454
HP:0012211	Abnormal renal physiology	5277	PIGA	ORPHA:447
HP:0012211	Abnormal renal physiology	3291	HSD11B2	ORPHA:320
HP:0012211	Abnormal renal physiology	7809	BSND	OMIM:602522
HP:0012211	Abnormal renal physiology	254428	SLC41A1	OMIM:619468
HP:0012211	Abnormal renal physiology	9451	EIF2AK3	OMIM:226980
HP:0012211	Abnormal renal physiology	9451	EIF2AK3	ORPHA:1667
HP:0012211	Abnormal renal physiology	56623	INPP5E	ORPHA:1454
HP:0012211	Abnormal renal physiology	27031	NPHP3	OMIM:604387
HP:0012211	Abnormal renal physiology	27031	NPHP3	OMIM:208540
HP:0012211	Abnormal renal physiology	151516	ASPRV1	ORPHA:313
HP:0012211	Abnormal renal physiology	242	ALOX12B	ORPHA:313
HP:0012211	Abnormal renal physiology	126410	CYP4F22	ORPHA:313
HP:0012211	Abnormal renal physiology	6820	SULT2B1	ORPHA:313
HP:0012211	Abnormal renal physiology	26154	ABCA12	ORPHA:313
HP:0012211	Abnormal renal physiology	643418	LIPN	ORPHA:313
HP:0012211	Abnormal renal physiology	59344	ALOXE3	ORPHA:313
HP:0012211	Abnormal renal physiology	348938	NIPAL4	ORPHA:313
HP:0012211	Abnormal renal physiology	121214	SDR9C7	ORPHA:313
HP:0012211	Abnormal renal physiology	7051	TGM1	ORPHA:313
HP:0012211	Abnormal renal physiology	56244	BTNL2	ORPHA:797
HP:0012211	Abnormal renal physiology	23476	BRD4	ORPHA:199
HP:0012211	Abnormal renal physiology	9126	SMC3	ORPHA:199
HP:0012211	Abnormal renal physiology	8243	SMC1A	ORPHA:199
HP:0012211	Abnormal renal physiology	6878	TAF6	ORPHA:199
HP:0012211	Abnormal renal physiology	25836	NIPBL	ORPHA:199
HP:0012211	Abnormal renal physiology	55869	HDAC8	ORPHA:199
HP:0012211	Abnormal renal physiology	5885	RAD21	ORPHA:199
HP:0012211	Abnormal renal physiology	4613	MYCN	ORPHA:391641
HP:0012211	Abnormal renal physiology	6338	SCNN1B	OMIM:177200
HP:0012211	Abnormal renal physiology	6338	SCNN1B	ORPHA:526
HP:0012211	Abnormal renal physiology	3975	LHX1	ORPHA:261265
HP:0012211	Abnormal renal physiology	6928	HNF1B	ORPHA:261265
HP:0012211	Abnormal renal physiology	6928	HNF1B	ORPHA:93111
HP:0012211	Abnormal renal physiology	4576	MT-TT	ORPHA:254857
HP:0012211	Abnormal renal physiology	1286	COL4A4	OMIM:203780
HP:0012211	Abnormal renal physiology	284086	NEK8	OMIM:620903
HP:0012211	Abnormal renal physiology	189	AGXT	OMIM:259900
HP:0012211	Abnormal renal physiology	3257	HPS1	OMIM:203300
HP:0012211	Abnormal renal physiology	54796	BNC2	ORPHA:93110
HP:0012211	Abnormal renal physiology	2335	FN1	ORPHA:84090
HP:0012211	Abnormal renal physiology	2335	FN1	OMIM:601894
HP:0012211	Abnormal renal physiology	23630	KCNE5	ORPHA:86818
HP:0012211	Abnormal renal physiology	2182	ACSL4	ORPHA:86818
HP:0012211	Abnormal renal physiology	9949	AMMECR1	ORPHA:86818
HP:0012211	Abnormal renal physiology	284252	KCTD1	OMIM:181270
HP:0012211	Abnormal renal physiology	100147744	RNU7-1	OMIM:619487
HP:0012211	Abnormal renal physiology	2628	GATM	OMIM:134600
HP:0012211	Abnormal renal physiology	6569	SLC34A1	OMIM:613388
HP:0012211	Abnormal renal physiology	100506658	OCLN	OMIM:251290
HP:0012211	Abnormal renal physiology	50485	SMARCAL1	OMIM:242900
HP:0012211	Abnormal renal physiology	51339	DACT1	ORPHA:857
HP:0012211	Abnormal renal physiology	199221	DZIP1L	ORPHA:731
HP:0012211	Abnormal renal physiology	348	APOE	OMIM:611771
HP:0012211	Abnormal renal physiology	25974	MMACHC	ORPHA:79282
HP:0012211	Abnormal renal physiology	25974	MMACHC	OMIM:277400
HP:0012211	Abnormal renal physiology	55005	RMND1	OMIM:614922
HP:0012211	Abnormal renal physiology	6340	SCNN1G	ORPHA:526
HP:0012211	Abnormal renal physiology	6337	SCNN1A	ORPHA:526
HP:0012211	Abnormal renal physiology	4853	NOTCH2	OMIM:610205
HP:0012211	Abnormal renal physiology	8481	OFD1	ORPHA:2750
HP:0012211	Abnormal renal physiology	81494	CFHR5	OMIM:614809
HP:0012211	Abnormal renal physiology	3735	KARS1	OMIM:619147
HP:0012211	Abnormal renal physiology	5087	PBX1	OMIM:617641
HP:0012211	Abnormal renal physiology	9054	NFS1	OMIM:619386
HP:0012211	Abnormal renal physiology	1235	CCR6	ORPHA:220393
HP:0012211	Abnormal renal physiology	1490	CCN2	ORPHA:220393
HP:0012211	Abnormal renal physiology	3663	IRF5	ORPHA:220393
HP:0012211	Abnormal renal physiology	857	CAV1	ORPHA:220393
HP:0012211	Abnormal renal physiology	4627	MYH9	ORPHA:182050
HP:0012211	Abnormal renal physiology	9935	MAFB	OMIM:166300
HP:0012211	Abnormal renal physiology	3145	HMBS	ORPHA:79276
HP:0012211	Abnormal renal physiology	5052	PRDX1	OMIM:277400
HP:0012211	Abnormal renal physiology	8085	KMT2D	OMIM:147920
HP:0012211	Abnormal renal physiology	7403	KDM6A	OMIM:147920
HP:0012211	Abnormal renal physiology	144811	LACC1	ORPHA:85414
HP:0012211	Abnormal renal physiology	4282	MIF	ORPHA:85414
HP:0012211	Abnormal renal physiology	3569	IL6	ORPHA:85414
HP:0012211	Abnormal renal physiology	8651	SOCS1	OMIM:619375
HP:0012211	Abnormal renal physiology	975	CD81	OMIM:613496
HP:0012211	Abnormal renal physiology	6892	TAPBP	OMIM:620814
HP:0012211	Abnormal renal physiology	9722	NOS1AP	OMIM:619155
HP:0012211	Abnormal renal physiology	10785	WDR4	OMIM:618347
HP:0012211	Abnormal renal physiology	10785	WDR4	ORPHA:2065
HP:0012211	Abnormal renal physiology	55505	NOP10	OMIM:620425
HP:0012211	Abnormal renal physiology	57122	NUP107	OMIM:618348
HP:0012211	Abnormal renal physiology	57122	NUP107	OMIM:616730
HP:0012211	Abnormal renal physiology	57122	NUP107	ORPHA:2065
HP:0012211	Abnormal renal physiology	55746	NUP133	OMIM:618349
HP:0012211	Abnormal renal physiology	55746	NUP133	ORPHA:2065
HP:0012211	Abnormal renal physiology	396	ARHGDIA	OMIM:615244
HP:0012211	Abnormal renal physiology	25959	KANK2	OMIM:617783
HP:0012211	Abnormal renal physiology	9342	SNAP29	ORPHA:66631
HP:0012211	Abnormal renal physiology	65082	VPS33A	OMIM:617303
HP:0012211	Abnormal renal physiology	65082	VPS33A	ORPHA:505248
HP:0012211	Abnormal renal physiology	3716	JAK1	OMIM:618999
HP:0012211	Abnormal renal physiology	8526	DGKE	OMIM:615008
HP:0012211	Abnormal renal physiology	7827	NPHS2	OMIM:600995
HP:0012211	Abnormal renal physiology	27235	COQ2	OMIM:607426
HP:0012211	Abnormal renal physiology	6786	STIM1	OMIM:612783
HP:0012211	Abnormal renal physiology	5921	RASA1	ORPHA:90307
HP:0012211	Abnormal renal physiology	3911	LAMA5	OMIM:620049
HP:0012211	Abnormal renal physiology	708	C1QBP	OMIM:617713
HP:0012211	Abnormal renal physiology	83480	PUS3	ORPHA:488627
HP:0012211	Abnormal renal physiology	79415	CYBC1	OMIM:618935
HP:0012211	Abnormal renal physiology	6662	SOX9	ORPHA:251510
HP:0012211	Abnormal renal physiology	6845	VAMP7	ORPHA:251510
HP:0012211	Abnormal renal physiology	51741	WWOX	ORPHA:251510
HP:0012211	Abnormal renal physiology	4214	MAP3K1	ORPHA:251510
HP:0012211	Abnormal renal physiology	2516	NR5A1	ORPHA:251510
HP:0012211	Abnormal renal physiology	57647	DHX37	ORPHA:251510
HP:0012211	Abnormal renal physiology	6736	SRY	ORPHA:251510
HP:0012211	Abnormal renal physiology	23414	ZFPM2	ORPHA:251510
HP:0012211	Abnormal renal physiology	190	NR0B1	ORPHA:251510
HP:0012211	Abnormal renal physiology	2626	GATA4	ORPHA:251510
HP:0012211	Abnormal renal physiology	55644	OSGEP	OMIM:617729
HP:0012211	Abnormal renal physiology	55644	OSGEP	ORPHA:2065
HP:0012211	Abnormal renal physiology	5373	PMM2	OMIM:212065
HP:0012211	Abnormal renal physiology	5373	PMM2	ORPHA:79318
HP:0012211	Abnormal renal physiology	2243	FGA	OMIM:105200
HP:0012211	Abnormal renal physiology	7225	TRPC6	OMIM:603965
HP:0012211	Abnormal renal physiology	582	BBS1	ORPHA:110
HP:0012211	Abnormal renal physiology	49855	SCAPER	ORPHA:110
HP:0012211	Abnormal renal physiology	51057	WDPCP	ORPHA:110
HP:0012211	Abnormal renal physiology	132320	SCLT1	ORPHA:110
HP:0012211	Abnormal renal physiology	84984	CEP19	ORPHA:110
HP:0012211	Abnormal renal physiology	22954	TRIM32	ORPHA:110
HP:0012211	Abnormal renal physiology	54903	MKS1	ORPHA:110
HP:0012211	Abnormal renal physiology	123016	TTC8	ORPHA:110
HP:0012211	Abnormal renal physiology	583	BBS2	ORPHA:110
HP:0012211	Abnormal renal physiology	585	BBS4	ORPHA:110
HP:0012211	Abnormal renal physiology	8195	MKKS	ORPHA:110
HP:0012211	Abnormal renal physiology	54585	LZTFL1	ORPHA:110
HP:0012211	Abnormal renal physiology	55212	BBS7	ORPHA:110
HP:0012211	Abnormal renal physiology	166379	BBS12	ORPHA:110
HP:0012211	Abnormal renal physiology	157657	CFAP418	ORPHA:110
HP:0012211	Abnormal renal physiology	84100	ARL6	ORPHA:110
HP:0012211	Abnormal renal physiology	129880	BBS5	ORPHA:110
HP:0012211	Abnormal renal physiology	80173	IFT74	ORPHA:110
HP:0012211	Abnormal renal physiology	595	CCND1	ORPHA:29073
HP:0012211	Abnormal renal physiology	112858	TP53RK	OMIM:617730
HP:0012211	Abnormal renal physiology	112858	TP53RK	ORPHA:2065
HP:0012211	Abnormal renal physiology	8879	SGPL1	OMIM:617575
HP:0012211	Abnormal renal physiology	8270	LAGE3	OMIM:301006
HP:0012211	Abnormal renal physiology	8270	LAGE3	ORPHA:2065
HP:0012211	Abnormal renal physiology	5580	PRKCD	OMIM:615559
HP:0012211	Abnormal renal physiology	5265	SERPINA1	ORPHA:60
HP:0012211	Abnormal renal physiology	6023	RMRP	ORPHA:39041
HP:0012211	Abnormal renal physiology	55636	CHD7	ORPHA:39041
HP:0012211	Abnormal renal physiology	3981	LIG4	ORPHA:39041
HP:0012211	Abnormal renal physiology	5896	RAG1	ORPHA:39041
HP:0012211	Abnormal renal physiology	5897	RAG2	ORPHA:39041
HP:0012211	Abnormal renal physiology	64421	DCLRE1C	ORPHA:39041
HP:0012211	Abnormal renal physiology	100	ADA	ORPHA:39041
HP:0012211	Abnormal renal physiology	3575	IL7R	ORPHA:39041
HP:0012211	Abnormal renal physiology	3561	IL2RG	ORPHA:39041
HP:0012211	Abnormal renal physiology	113189	CHST14	OMIM:601776
HP:0012211	Abnormal renal physiology	5800	PTPRO	OMIM:614196
HP:0012211	Abnormal renal physiology	64135	IFIH1	OMIM:615846
HP:0012211	Abnormal renal physiology	1736	DKC1	OMIM:301108
HP:0012211	Abnormal renal physiology	139818	DOCK11	OMIM:301109
HP:0012211	Abnormal renal physiology	4141	MARS1	ORPHA:401835
HP:0012211	Abnormal renal physiology	26503	SLC17A5	OMIM:269920
HP:0012211	Abnormal renal physiology	50943	FOXP3	ORPHA:37042
HP:0012211	Abnormal renal physiology	51196	PLCE1	OMIM:610725
HP:0012211	Abnormal renal physiology	29110	TBK1	OMIM:620880
HP:0012211	Abnormal renal physiology	54443	ANLN	OMIM:616032
HP:0012211	Abnormal renal physiology	4643	MYO1E	OMIM:614131
HP:0012211	Abnormal renal physiology	84823	LMNB2	OMIM:608709
HP:0012211	Abnormal renal physiology	2013	EMP2	OMIM:615861
HP:0012211	Abnormal renal physiology	7535	ZAP70	OMIM:617006
HP:0012211	Abnormal renal physiology	7535	ZAP70	ORPHA:911
HP:0012211	Abnormal renal physiology	57107	PDSS2	OMIM:614652
HP:0012211	Abnormal renal physiology	79693	YRDC	ORPHA:2065
HP:0012211	Abnormal renal physiology	51002	TPRKB	ORPHA:2065
HP:0012211	Abnormal renal physiology	84520	GON7	ORPHA:2065
HP:0012211	Abnormal renal physiology	81603	TRIM8	OMIM:619428
HP:0012211	Abnormal renal physiology	83483	PLVAP	OMIM:618183
HP:0012211	Abnormal renal physiology	10916	MAGED2	OMIM:300971
HP:0012211	Abnormal renal physiology	9365	KL	OMIM:617994
HP:0012211	Abnormal renal physiology	6557	SLC12A1	OMIM:601678
HP:0012211	Abnormal renal physiology	3710	ITPR3	OMIM:222100
HP:0012211	Abnormal renal physiology	6651	SON	OMIM:617140
HP:0012211	Abnormal renal physiology	3758	KCNJ1	OMIM:241200
HP:0012211	Abnormal renal physiology	1591	CYP24A1	OMIM:143880
HP:0012211	Abnormal renal physiology	476	ATP1A1	OMIM:618314
HP:0012211	Abnormal renal physiology	58528	RRAGD	OMIM:620152
HP:0012211	Abnormal renal physiology	3767	KCNJ11	ORPHA:552
HP:0012211	Abnormal renal physiology	8462	KLF11	ORPHA:552
HP:0012211	Abnormal renal physiology	2645	GCK	ORPHA:552
HP:0012211	Abnormal renal physiology	26060	APPL1	ORPHA:552
HP:0012211	Abnormal renal physiology	640	BLK	ORPHA:552
HP:0012211	Abnormal renal physiology	1056	CEL	ORPHA:552
HP:0012211	Abnormal renal physiology	4760	NEUROD1	ORPHA:552
HP:0012211	Abnormal renal physiology	3651	PDX1	ORPHA:552
HP:0012211	Abnormal renal physiology	6833	ABCC8	ORPHA:552
HP:0012211	Abnormal renal physiology	5078	PAX4	ORPHA:552
HP:0012211	Abnormal renal physiology	3172	HNF4A	ORPHA:552
HP:0012211	Abnormal renal physiology	6927	HNF1A	ORPHA:552
HP:0012211	Abnormal renal physiology	3630	INS	ORPHA:552
HP:0012211	Abnormal renal physiology	4558	MT-TF	ORPHA:550
HP:0012211	Abnormal renal physiology	4572	MT-TQ	ORPHA:550
HP:0012211	Abnormal renal physiology	4513	MT-CO2	ORPHA:550
HP:0012211	Abnormal renal physiology	4578	MT-TW	ORPHA:550
HP:0012211	Abnormal renal physiology	4540	MT-ND5	ORPHA:550
HP:0012211	Abnormal renal physiology	4541	MT-ND6	ORPHA:550
HP:0012211	Abnormal renal physiology	4535	MT-ND1	ORPHA:550
HP:0012211	Abnormal renal physiology	4538	MT-ND4	ORPHA:550
HP:0012211	Abnormal renal physiology	4567	MT-TL1	ORPHA:550
HP:0012211	Abnormal renal physiology	4574	MT-TS1	ORPHA:550
HP:0012211	Abnormal renal physiology	4575	MT-TS2	ORPHA:550
HP:0012211	Abnormal renal physiology	4564	MT-TH	ORPHA:550
HP:0012211	Abnormal renal physiology	7454	WAS	OMIM:301000
HP:0012211	Abnormal renal physiology	7454	WAS	ORPHA:906
HP:0012211	Abnormal renal physiology	29927	SEC61A1	OMIM:617056
HP:0012211	Abnormal renal physiology	7456	WIPF1	ORPHA:906
HP:0012211	Abnormal renal physiology	493856	CISD2	ORPHA:3463
HP:0012211	Abnormal renal physiology	7466	WFS1	ORPHA:3463
HP:0012211	Abnormal renal physiology	3766	KCNJ10	ORPHA:705
HP:0012211	Abnormal renal physiology	2299	FOXI1	ORPHA:705
HP:0012211	Abnormal renal physiology	5172	SLC26A4	ORPHA:705
HP:0012211	Abnormal renal physiology	51816	ADA2	ORPHA:820
HP:0012211	Abnormal renal physiology	6514	SLC2A2	ORPHA:2088
HP:0012211	Abnormal renal physiology	5625	PRODH	ORPHA:419
HP:0012211	Abnormal renal physiology	3090	HIC1	ORPHA:531
HP:0012211	Abnormal renal physiology	5048	PAFAH1B1	ORPHA:531
HP:0012211	Abnormal renal physiology	7531	YWHAE	ORPHA:531
HP:0012211	Abnormal renal physiology	6524	SLC5A2	ORPHA:69076
HP:0012211	Abnormal renal physiology	149461	CLDN19	ORPHA:2196
HP:0012211	Abnormal renal physiology	64127	NOD2	ORPHA:90340
HP:0012211	Abnormal renal physiology	11277	TREX1	ORPHA:247691
HP:0012211	Abnormal renal physiology	26276	VPS33B	OMIM:208085
HP:0012211	Abnormal renal physiology	63894	VIPAS39	OMIM:613404
HP:0012211	Abnormal renal physiology	1371	CPOX	ORPHA:79273
HP:0012211	Abnormal renal physiology	1288	COL4A6	ORPHA:1018
HP:0012211	Abnormal renal physiology	4351	MPI	OMIM:602579
HP:0012211	Abnormal renal physiology	54539	NDUFB11	ORPHA:2609
HP:0012211	Abnormal renal physiology	25915	NDUFAF3	ORPHA:2609
HP:0012211	Abnormal renal physiology	51103	NDUFAF1	ORPHA:2609
HP:0012211	Abnormal renal physiology	91942	NDUFAF2	ORPHA:2609
HP:0012211	Abnormal renal physiology	51300	TIMMDC1	ORPHA:2609
HP:0012211	Abnormal renal physiology	4716	NDUFB10	ORPHA:2609
HP:0012211	Abnormal renal physiology	4723	NDUFV1	ORPHA:2609
HP:0012211	Abnormal renal physiology	55572	FOXRED1	ORPHA:2609
HP:0012211	Abnormal renal physiology	284184	NDUFAF8	ORPHA:2609
HP:0012211	Abnormal renal physiology	55863	TMEM126B	ORPHA:2609
HP:0012211	Abnormal renal physiology	4537	MT-ND3	ORPHA:2609
HP:0012211	Abnormal renal physiology	4729	NDUFV2	ORPHA:2609
HP:0012211	Abnormal renal physiology	4694	NDUFA1	ORPHA:2609
HP:0012211	Abnormal renal physiology	4720	NDUFS2	ORPHA:2609
HP:0012211	Abnormal renal physiology	4724	NDUFS4	ORPHA:2609
HP:0012211	Abnormal renal physiology	4726	NDUFS6	ORPHA:2609
HP:0012211	Abnormal renal physiology	4728	NDUFS8	ORPHA:2609
HP:0012211	Abnormal renal physiology	4722	NDUFS3	ORPHA:2609
HP:0012211	Abnormal renal physiology	79133	NDUFAF5	ORPHA:2609
HP:0012211	Abnormal renal physiology	126328	NDUFA11	ORPHA:2609
HP:0012211	Abnormal renal physiology	4709	NDUFB3	ORPHA:2609
HP:0012211	Abnormal renal physiology	80224	NUBPL	ORPHA:2609
HP:0012211	Abnormal renal physiology	29078	NDUFAF4	ORPHA:2609
HP:0012211	Abnormal renal physiology	374291	NDUFS7	ORPHA:2609
HP:0012211	Abnormal renal physiology	4700	NDUFA6	ORPHA:2609
HP:0012211	Abnormal renal physiology	4536	MT-ND2	ORPHA:2609
HP:0012211	Abnormal renal physiology	4719	NDUFS1	ORPHA:2609
HP:0012211	Abnormal renal physiology	4715	NDUFB9	ORPHA:2609
HP:0012211	Abnormal renal physiology	5442	POLRMT	OMIM:619743
HP:0012211	Abnormal renal physiology	57511	COG6	OMIM:614576
HP:0012211	Abnormal renal physiology	4358	MPV17	OMIM:256810
HP:0012211	Abnormal renal physiology	2110	ETFDH	OMIM:231680
HP:0012211	Abnormal renal physiology	2108	ETFA	OMIM:231680
HP:0012211	Abnormal renal physiology	2109	ETFB	OMIM:231680
HP:0012211	Abnormal renal physiology	3162	HMOX1	OMIM:614034
HP:0012211	Abnormal renal physiology	2212	FCGR2A	OMIM:152700
HP:0012211	Abnormal renal physiology	2213	FCGR2B	OMIM:152700
HP:0012211	Abnormal renal physiology	1773	DNASE1	OMIM:152700
HP:0012211	Abnormal renal physiology	5340	PLG	OMIM:217090
HP:0012211	Abnormal renal physiology	977	CD151	OMIM:609057
HP:0012211	Abnormal renal physiology	2778	GNAS	ORPHA:562
HP:0012211	Abnormal renal physiology	5251	PHEX	OMIM:307800
HP:0012211	Abnormal renal physiology	9056	SLC7A7	ORPHA:470
HP:0012211	Abnormal renal physiology	4570	MT-TN	OMIM:220110
HP:0012211	Abnormal renal physiology	6834	SURF1	OMIM:220110
HP:0012211	Abnormal renal physiology	142680	SLC34A3	OMIM:241530
HP:0012211	Abnormal renal physiology	57570	TRMT5	OMIM:616539
HP:0012211	Abnormal renal physiology	5824	PEX19	OMIM:614886
HP:0012211	Abnormal renal physiology	84334	COA8	ORPHA:436271
HP:0012211	Abnormal renal physiology	540	ATP7B	OMIM:277900
HP:0012211	Abnormal renal physiology	6774	STAT3	ORPHA:99885
HP:0012211	Abnormal renal physiology	3762	KCNJ5	ORPHA:37553
HP:0012211	Abnormal renal physiology	3759	KCNJ2	ORPHA:37553
HP:0012211	Abnormal renal physiology	4179	CD46	OMIM:612922
HP:0012211	Abnormal renal physiology	629	CFB	OMIM:612924
HP:0012211	Abnormal renal physiology	7056	THBD	OMIM:612926
HP:0012211	Abnormal renal physiology	3655	ITGA6	ORPHA:79403
HP:0012211	Abnormal renal physiology	3691	ITGB4	ORPHA:79403
HP:0012211	Abnormal renal physiology	6720	SREBF1	OMIM:158310
HP:0012211	Abnormal renal physiology	2158	F9	OMIM:306900
HP:0012211	Abnormal renal physiology	23395	LARS2	OMIM:617021
HP:0012211	Abnormal renal physiology	10413	YAP1	ORPHA:1473
HP:0012211	Abnormal renal physiology	10413	YAP1	OMIM:120433
HP:0012211	Abnormal renal physiology	2215	FCGR3B	ORPHA:536
HP:0012211	Abnormal renal physiology	3684	ITGAM	ORPHA:536
HP:0012211	Abnormal renal physiology	221895	JAZF1	ORPHA:536
HP:0012211	Abnormal renal physiology	7292	TNFSF4	ORPHA:536
HP:0012211	Abnormal renal physiology	55024	BANK1	ORPHA:536
HP:0012211	Abnormal renal physiology	3500	IGHG1	ORPHA:536
HP:0012211	Abnormal renal physiology	1380	CR2	ORPHA:536
HP:0012211	Abnormal renal physiology	5133	PDCD1	ORPHA:536
HP:0012211	Abnormal renal physiology	2113	ETS1	ORPHA:536
HP:0012211	Abnormal renal physiology	10318	TNIP1	ORPHA:536
HP:0012211	Abnormal renal physiology	7332	UBE2L3	ORPHA:536
HP:0012211	Abnormal renal physiology	79932	KIAA0319L	ORPHA:536
HP:0012211	Abnormal renal physiology	4204	MECP2	ORPHA:536
HP:0012211	Abnormal renal physiology	721	C4B	ORPHA:536
HP:0012211	Abnormal renal physiology	51284	TLR7	ORPHA:536
HP:0012211	Abnormal renal physiology	54899	PXK	ORPHA:536
HP:0012211	Abnormal renal physiology	7128	TNFAIP3	ORPHA:536
HP:0012211	Abnormal renal physiology	1801	DPH1	OMIM:616901
HP:0012211	Abnormal renal physiology	55109	AGGF1	ORPHA:90308
HP:0012211	Abnormal renal physiology	5290	PIK3CA	ORPHA:90308
HP:0012211	Abnormal renal physiology	2159	F10	ORPHA:328
HP:0012211	Abnormal renal physiology	7428	VHL	ORPHA:276621
HP:0012211	Abnormal renal physiology	7428	VHL	ORPHA:29072
HP:0012211	Abnormal renal physiology	5979	RET	ORPHA:276621
HP:0012211	Abnormal renal physiology	5979	RET	ORPHA:29072
HP:0012211	Abnormal renal physiology	1788	DNMT3A	ORPHA:276621
HP:0012211	Abnormal renal physiology	2034	EPAS1	ORPHA:276621
HP:0012211	Abnormal renal physiology	6392	SDHD	ORPHA:276621
HP:0012211	Abnormal renal physiology	6392	SDHD	ORPHA:29072
HP:0012211	Abnormal renal physiology	6390	SDHB	ORPHA:276621
HP:0012211	Abnormal renal physiology	6390	SDHB	ORPHA:29072
HP:0012211	Abnormal renal physiology	9103	FCGR2C	ORPHA:3002
HP:0012211	Abnormal renal physiology	84818	IL17RC	ORPHA:1334
HP:0012211	Abnormal renal physiology	64581	CLEC7A	ORPHA:1334
HP:0012211	Abnormal renal physiology	23765	IL17RA	ORPHA:1334
HP:0012211	Abnormal renal physiology	10758	TRAF3IP2	ORPHA:1334
HP:0012211	Abnormal renal physiology	112744	IL17F	ORPHA:1334
HP:0012211	Abnormal renal physiology	54	ACP5	ORPHA:1855
HP:0012211	Abnormal renal physiology	6711	SPTBN1	OMIM:619475
HP:0012211	Abnormal renal physiology	1743	DLST	ORPHA:29072
HP:0012211	Abnormal renal physiology	4191	MDH2	ORPHA:29072
HP:0012211	Abnormal renal physiology	6389	SDHA	ORPHA:29072
HP:0012211	Abnormal renal physiology	23095	KIF1B	ORPHA:29072
HP:0012211	Abnormal renal physiology	2271	FH	ORPHA:29072
HP:0012211	Abnormal renal physiology	8402	SLC25A11	ORPHA:29072
HP:0012211	Abnormal renal physiology	54949	SDHAF2	ORPHA:29072
HP:0012211	Abnormal renal physiology	55654	TMEM127	ORPHA:29072
HP:0012211	Abnormal renal physiology	4763	NF1	ORPHA:29072
HP:0012211	Abnormal renal physiology	6391	SDHC	ORPHA:29072
HP:0012211	Abnormal renal physiology	4149	MAX	ORPHA:29072
HP:0012211	Abnormal renal physiology	5345	SERPINF2	ORPHA:79
HP:0012211	Abnormal renal physiology	3075	CFH	OMIM:609814
HP:0012211	Abnormal renal physiology	3998	LMAN1	ORPHA:35909
HP:0012211	Abnormal renal physiology	90411	MCFD2	ORPHA:35909
HP:0012211	Abnormal renal physiology	9688	NUP93	OMIM:616892
HP:0012211	Abnormal renal physiology	10253	SPRY2	OMIM:616818
HP:0012211	Abnormal renal physiology	2811	GP1BA	ORPHA:853
HP:0012211	Abnormal renal physiology	2812	GP1BB	ORPHA:853
HP:0012211	Abnormal renal physiology	3674	ITGA2B	ORPHA:853
HP:0012211	Abnormal renal physiology	3673	ITGA2	ORPHA:853
HP:0012211	Abnormal renal physiology	135228	CD109	ORPHA:853
HP:0012211	Abnormal renal physiology	3690	ITGB3	ORPHA:853
HP:0012211	Abnormal renal physiology	2157	F8	ORPHA:169805
HP:0012211	Abnormal renal physiology	5213	PFKM	OMIM:232800
HP:0012211	Abnormal renal physiology	5371	PML	ORPHA:520
HP:0012211	Abnormal renal physiology	5914	RARA	ORPHA:520
HP:0012211	Abnormal renal physiology	359948	IRF2BP2	ORPHA:520
HP:0012211	Abnormal renal physiology	81608	FIP1L1	ORPHA:520
HP:0012211	Abnormal renal physiology	4869	NPM1	ORPHA:520
HP:0012211	Abnormal renal physiology	5573	PRKAR1A	ORPHA:520
HP:0012211	Abnormal renal physiology	54880	BCOR	ORPHA:520
HP:0012211	Abnormal renal physiology	64859	NABP1	ORPHA:520
HP:0012211	Abnormal renal physiology	6777	STAT5B	ORPHA:520
HP:0012211	Abnormal renal physiology	4926	NUMA1	ORPHA:520
HP:0012211	Abnormal renal physiology	7704	ZBTB16	ORPHA:520
HP:0012211	Abnormal renal physiology	79718	TBL1XR1	ORPHA:520
HP:0012211	Abnormal renal physiology	2629	GBA1	ORPHA:77261
HP:0012211	Abnormal renal physiology	2629	GBA1	ORPHA:77259
HP:0012211	Abnormal renal physiology	10568	SLC34A2	ORPHA:60025
HP:0012211	Abnormal renal physiology	7372	UMPS	OMIM:258900
HP:0012211	Abnormal renal physiology	22909	FAN1	OMIM:614817
HP:0012211	Abnormal renal physiology	1777	DNASE2	OMIM:619858
HP:0012211	Abnormal renal physiology	712	C1QA	OMIM:613652
HP:0012211	Abnormal renal physiology	5238	PGM3	ORPHA:443811
HP:0012211	Abnormal renal physiology	5238	PGM3	OMIM:615816
HP:0012211	Abnormal renal physiology	253738	EBF3	ORPHA:96148
HP:0012211	Abnormal renal physiology	6261	RYR1	ORPHA:466650
HP:0012211	Abnormal renal physiology	6261	RYR1	ORPHA:423
HP:0012211	Abnormal renal physiology	779	CACNA1S	ORPHA:423
HP:0012211	Abnormal renal physiology	101101692	HELLPAR	ORPHA:244242
HP:0012211	Abnormal renal physiology	6948	TCN2	ORPHA:859
HP:0012211	Abnormal renal physiology	6773	STAT2	OMIM:618886
HP:0012211	Abnormal renal physiology	5837	PYGM	ORPHA:368
HP:0012211	Abnormal renal physiology	226	ALDOA	ORPHA:57
HP:0012211	Abnormal renal physiology	10861	SLC26A1	OMIM:167030
HP:0012211	Abnormal renal physiology	1374	CPT1A	ORPHA:156
HP:0012211	Abnormal renal physiology	1374	CPT1A	OMIM:255120
HP:0012211	Abnormal renal physiology	525	ATP6V1B1	OMIM:267300
HP:0012211	Abnormal renal physiology	57551	TAOK1	OMIM:619575
HP:0012211	Abnormal renal physiology	26235	FBXL4	OMIM:615471
HP:0012211	Abnormal renal physiology	133686	NADK2	ORPHA:431361
HP:0012211	Abnormal renal physiology	5257	PHKB	ORPHA:79240
HP:0012211	Abnormal renal physiology	5256	PHKA2	ORPHA:264580
HP:0012211	Abnormal renal physiology	5261	PHKG2	ORPHA:264580
HP:0012211	Abnormal renal physiology	790	CAD	OMIM:616457
HP:0012211	Abnormal renal physiology	182	JAG1	OMIM:118450
HP:0012211	Abnormal renal physiology	57724	EPG5	ORPHA:1493
HP:0012211	Abnormal renal physiology	6559	SLC12A3	ORPHA:358
HP:0012211	Abnormal renal physiology	760	CA2	ORPHA:2785
HP:0012211	Abnormal renal physiology	3712	IVD	ORPHA:33
HP:0012211	Abnormal renal physiology	617	BCS1L	ORPHA:53693
HP:0012211	Abnormal renal physiology	8671	SLC4A4	OMIM:604278
HP:0012211	Abnormal renal physiology	84300	UQCC2	OMIM:615824
HP:0012211	Abnormal renal physiology	5091	PC	OMIM:266150
HP:0012211	Abnormal renal physiology	9663	LPIN2	ORPHA:77297
HP:0012211	Abnormal renal physiology	2147	F2	ORPHA:325
HP:0012211	Abnormal renal physiology	335	APOA1	OMIM:620657
HP:0012211	Abnormal renal physiology	5978	REST	ORPHA:654
HP:0012211	Abnormal renal physiology	129563	DIS3L2	ORPHA:654
HP:0012211	Abnormal renal physiology	9319	TRIP13	ORPHA:654
HP:0012211	Abnormal renal physiology	10155	TRIM28	ORPHA:654
HP:0012211	Abnormal renal physiology	11281	POU6F2	ORPHA:654
HP:0012211	Abnormal renal physiology	2719	GPC3	ORPHA:654
HP:0012211	Abnormal renal physiology	283120	H19	ORPHA:654
HP:0012211	Abnormal renal physiology	6091	ROBO1	OMIM:620305
HP:0012211	Abnormal renal physiology	10847	SRCAP	ORPHA:2044
HP:0012211	Abnormal renal physiology	25778	DSTYK	OMIM:610805
HP:0012211	Abnormal renal physiology	54806	AHI1	OMIM:608629
HP:0012211	Abnormal renal physiology	10269	ZMPSTE24	OMIM:608612
HP:0012211	Abnormal renal physiology	93649	MYOCD	OMIM:618719
HP:0012211	Abnormal renal physiology	63929	XPNPEP3	OMIM:613159
HP:0012211	Abnormal renal physiology	84662	GLIS2	OMIM:611498
HP:0012211	Abnormal renal physiology	112752	IFT43	OMIM:614099
HP:0012211	Abnormal renal physiology	51134	CEP83	OMIM:615862
HP:0012211	Abnormal renal physiology	4582	MUC1	OMIM:174000
HP:0012211	Abnormal renal physiology	2591	GALNT3	OMIM:211900
HP:0012211	Abnormal renal physiology	4036	LRP2	OMIM:222448
HP:0012211	Abnormal renal physiology	29071	C1GALT1C1	OMIM:301110
HP:0012211	Abnormal renal physiology	4552	MTRR	ORPHA:2169
HP:0012211	Abnormal renal physiology	55858	TMEM165	OMIM:614727
HP:0012211	Abnormal renal physiology	10878	CFHR3	OMIM:235400
HP:0012211	Abnormal renal physiology	3078	CFHR1	OMIM:235400
HP:0012211	Abnormal renal physiology	50617	ATP6V0A4	OMIM:602722
HP:0012211	Abnormal renal physiology	1314	COPA	OMIM:616414
HP:0012211	Abnormal renal physiology	7355	SLC35A2	ORPHA:356961
HP:0012211	Abnormal renal physiology	1758	DMP1	ORPHA:289176
HP:0012211	Abnormal renal physiology	5167	ENPP1	ORPHA:289176
HP:0012211	Abnormal renal physiology	5551	PRF1	ORPHA:540
HP:0012211	Abnormal renal physiology	8676	STX11	ORPHA:540
HP:0012211	Abnormal renal physiology	201294	UNC13D	ORPHA:540
HP:0012211	Abnormal renal physiology	6813	STXBP2	ORPHA:540
HP:0012211	Abnormal renal physiology	8518	ELP1	OMIM:223900
HP:0012211	Abnormal renal physiology	1019	CDK4	ORPHA:99971
HP:0012211	Abnormal renal physiology	4193	MDM2	ORPHA:99971
HP:0012211	Abnormal renal physiology	8091	HMGA2	ORPHA:99971
HP:0012211	Abnormal renal physiology	7276	TTR	ORPHA:85447
HP:0012211	Abnormal renal physiology	5191	PEX7	OMIM:266500
HP:0012211	Abnormal renal physiology	5264	PHYH	OMIM:266500
HP:0012211	Abnormal renal physiology	6809	STX3	ORPHA:2290
HP:0012211	Abnormal renal physiology	4645	MYO5B	ORPHA:2290
HP:0012211	Abnormal renal physiology	11093	ADAMTS13	OMIM:274150
HP:0012211	Abnormal renal physiology	56606	SLC2A9	ORPHA:94088
HP:0012211	Abnormal renal physiology	116085	SLC22A12	ORPHA:94088
HP:0012211	Abnormal renal physiology	112817	HOGA1	ORPHA:93600
HP:0012211	Abnormal renal physiology	1534	CYB561	OMIM:618182
HP:0012211	Abnormal renal physiology	2538	G6PC1	OMIM:232200
HP:0012211	Abnormal renal physiology	3081	HGD	OMIM:203500
HP:0012211	Abnormal renal physiology	846	CASR	OMIM:601198
HP:0012211	Abnormal renal physiology	9203	ZMYM3	OMIM:301111
HP:0012211	Abnormal renal physiology	4629	MYH11	OMIM:619351
HP:0012211	Abnormal renal physiology	7498	XDH	OMIM:278300
HP:0012211	Abnormal renal physiology	10516	FBLN5	ORPHA:90348
HP:0012211	Abnormal renal physiology	10516	FBLN5	ORPHA:90349
HP:0012211	Abnormal renal physiology	5832	ALDH18A1	ORPHA:90348
HP:0012211	Abnormal renal physiology	4052	LTBP1	ORPHA:90349
HP:0012211	Abnormal renal physiology	30008	EFEMP2	ORPHA:90349
HP:0012211	Abnormal renal physiology	10092	ARPC5	OMIM:620565
HP:0012211	Abnormal renal physiology	2815	GP9	ORPHA:274
HP:0012211	Abnormal renal physiology	1291	COL6A1	OMIM:158810
HP:0012211	Abnormal renal physiology	55243	KIRREL1	OMIM:619201
HP:0012211	Abnormal renal physiology	51004	COQ6	OMIM:614650
HP:0012211	Abnormal renal physiology	10677	AVIL	OMIM:618594
HP:0012211	Abnormal renal physiology	2639	GCDH	ORPHA:25
HP:0012211	Abnormal renal physiology	25970	SH2B1	ORPHA:261222
HP:0012211	Abnormal renal physiology	5972	REN	OMIM:613092
HP:0012211	Abnormal renal physiology	374879	ZNF699	OMIM:619488
HP:0012211	Abnormal renal physiology	8942	KYNU	OMIM:617661
HP:0012211	Abnormal renal physiology	51473	DCDC2	ORPHA:84081
HP:0012211	Abnormal renal physiology	64423	INF2	ORPHA:656
HP:0012211	Abnormal renal physiology	26130	GAPVD1	ORPHA:656
HP:0012211	Abnormal renal physiology	51479	ANKFY1	ORPHA:656
HP:0012211	Abnormal renal physiology	23165	NUP205	ORPHA:656
HP:0012211	Abnormal renal physiology	79023	NUP37	ORPHA:656
HP:0012211	Abnormal renal physiology	79902	NUP85	ORPHA:656
HP:0012211	Abnormal renal physiology	79934	COQ8B	ORPHA:656
HP:0012211	Abnormal renal physiology	23279	NUP160	ORPHA:656
HP:0012211	Abnormal renal physiology	9863	MAGI2	ORPHA:656
HP:0012211	Abnormal renal physiology	81	ACTN4	ORPHA:656
HP:0012211	Abnormal renal physiology	8542	APOL1	ORPHA:656
HP:0012211	Abnormal renal physiology	54885	TBC1D8B	ORPHA:656
HP:0012211	Abnormal renal physiology	83478	ARHGAP24	ORPHA:656
HP:0012211	Abnormal renal physiology	23500	DAAM2	ORPHA:656
HP:0012211	Abnormal renal physiology	137682	NDUFAF6	ORPHA:3337
HP:0012211	Abnormal renal physiology	3190	HNRNPK	OMIM:616580
HP:0012211	Abnormal renal physiology	55764	IFT122	OMIM:218330
HP:0012211	Abnormal renal physiology	4914	NTRK1	ORPHA:642
HP:0012211	Abnormal renal physiology	4509	MT-ATP8	ORPHA:480
HP:0012211	Abnormal renal physiology	50484	RRM2B	ORPHA:480
HP:0012211	Abnormal renal physiology	5498	PPOX	ORPHA:79473
HP:0012211	Abnormal renal physiology	54938	SARS2	OMIM:613845
HP:0012211	Abnormal renal physiology	26146	TRAF3IP1	ORPHA:3156
HP:0012211	Abnormal renal physiology	9657	IQCB1	ORPHA:3156
HP:0012211	Abnormal renal physiology	27130	INVS	ORPHA:3156
HP:0012211	Abnormal renal physiology	261734	NPHP4	ORPHA:3156
HP:0012211	Abnormal renal physiology	22897	CEP164	ORPHA:3156
HP:0012211	Abnormal renal physiology	567	B2M	ORPHA:314652
HP:0012211	Abnormal renal physiology	91461	PKDCC	OMIM:618821
HP:0012211	Abnormal renal physiology	1136	CHRNA3	OMIM:191800
HP:0012211	Abnormal renal physiology	6522	SLC4A2	OMIM:620366
HP:0012211	Abnormal renal physiology	340533	NEXMIF	OMIM:300912
HP:0012211	Abnormal renal physiology	6521	SLC4A1	OMIM:611590
HP:0012211	Abnormal renal physiology	54805	CNNM2	OMIM:613882
HP:0012211	Abnormal renal physiology	1636	ACE	OMIM:267430
HP:0012211	Abnormal renal physiology	183	AGT	OMIM:267430
HP:0012211	Abnormal renal physiology	185	AGTR1	OMIM:267430
HP:0012211	Abnormal renal physiology	788	SLC25A20	ORPHA:159
HP:0012211	Abnormal renal physiology	55249	YY1AP1	OMIM:602531
HP:0012211	Abnormal renal physiology	1281	COL3A1	ORPHA:286
HP:0012211	Abnormal renal physiology	6772	STAT1	ORPHA:391487
HP:0012211	Abnormal renal physiology	9896	FIG4	ORPHA:3472
HP:0012211	Abnormal renal physiology	55697	VAC14	ORPHA:3472
HP:0012211	Abnormal renal physiology	368	ABCC6	ORPHA:758
HP:0012211	Abnormal renal physiology	368	ABCC6	OMIM:264800
HP:0012211	Abnormal renal physiology	64131	XYLT1	OMIM:264800
HP:0012211	Abnormal renal physiology	64132	XYLT2	OMIM:264800
HP:0012212	Abnormal glomerular filtration rate	1534	CYB561	OMIM:618182
HP:0012212	Abnormal glomerular filtration rate	51726	DNAJB11	OMIM:618061
HP:0012212	Abnormal glomerular filtration rate	51726	DNAJB11	ORPHA:730
HP:0012212	Abnormal glomerular filtration rate	23193	GANAB	ORPHA:730
HP:0012212	Abnormal glomerular filtration rate	5310	PKD1	ORPHA:730
HP:0012212	Abnormal glomerular filtration rate	5311	PKD2	ORPHA:730
HP:0012212	Abnormal glomerular filtration rate	29880	ALG5	ORPHA:730
HP:0012212	Abnormal glomerular filtration rate	9742	IFT140	ORPHA:730
HP:0012212	Abnormal glomerular filtration rate	79796	ALG9	ORPHA:730
HP:0012212	Abnormal glomerular filtration rate	80114	BICC1	ORPHA:730
HP:0012212	Abnormal glomerular filtration rate	9056	SLC7A7	ORPHA:470
HP:0012212	Abnormal glomerular filtration rate	7369	UMOD	OMIM:162000
HP:0012212	Abnormal glomerular filtration rate	1187	CLCNKA	OMIM:613090
HP:0012212	Abnormal glomerular filtration rate	1188	CLCNKB	OMIM:613090
HP:0012212	Abnormal glomerular filtration rate	5076	PAX2	ORPHA:97362
HP:0012212	Abnormal glomerular filtration rate	5087	PBX1	ORPHA:97362
HP:0012212	Abnormal glomerular filtration rate	29927	SEC61A1	OMIM:617056
HP:0012212	Abnormal glomerular filtration rate	2538	G6PC1	OMIM:232200
HP:0012212	Abnormal glomerular filtration rate	3081	HGD	OMIM:203500
HP:0012212	Abnormal glomerular filtration rate	56606	SLC2A9	ORPHA:94088
HP:0012212	Abnormal glomerular filtration rate	116085	SLC22A12	ORPHA:94088
HP:0012212	Abnormal glomerular filtration rate	3675	ITGA3	OMIM:614748
HP:0012212	Abnormal glomerular filtration rate	51816	ADA2	ORPHA:820
HP:0012212	Abnormal glomerular filtration rate	2542	SLC37A4	OMIM:232220
HP:0012212	Abnormal glomerular filtration rate	2542	SLC37A4	OMIM:232240
HP:0012212	Abnormal glomerular filtration rate	83480	PUS3	ORPHA:488627
HP:0012212	Abnormal glomerular filtration rate	189	AGXT	ORPHA:93598
HP:0012212	Abnormal glomerular filtration rate	846	CASR	OMIM:601198
HP:0012212	Abnormal glomerular filtration rate	7809	BSND	OMIM:602522
HP:0012212	Abnormal glomerular filtration rate	6569	SLC34A1	OMIM:613388
HP:0012212	Abnormal glomerular filtration rate	4582	MUC1	OMIM:174000
HP:0033050	Pharyngalgia	91662	NLRP12	OMIM:611762
HP:0033050	Pharyngalgia	1380	CR2	OMIM:614699
HP:0033051	Impaired executive functioning	4358	MPV17	OMIM:256810
HP:0033051	Impaired executive functioning	25974	MMACHC	ORPHA:79282
HP:0033051	Impaired executive functioning	6687	SPG7	OMIM:607259
HP:0033051	Impaired executive functioning	84188	FAR1	OMIM:619338
HP:0033051	Impaired executive functioning	54840	APTX	OMIM:208920
HP:0033051	Impaired executive functioning	55187	VPS13D	OMIM:607317
HP:0033051	Impaired executive functioning	1436	CSF1R	OMIM:221820
HP:0033051	Impaired executive functioning	4884	NPTX1	OMIM:620158
HP:0033051	Impaired executive functioning	10558	SPTLC1	OMIM:620285
HP:0033051	Impaired executive functioning	1540	CYLD	OMIM:619132
HP:0033051	Impaired executive functioning	5155	PDGFB	OMIM:615483
HP:0033052	Non-epileptic seizure	25942	SIN3A	OMIM:613406
HP:0033054	Myoclonic tremor	27327	TNRC6A	OMIM:618074
HP:0033054	Myoclonic tremor	9693	RAPGEF2	OMIM:618075
HP:0033057	Decreased circulating terminal complement component concentration	732	C8B	OMIM:613789
HP:0033057	Decreased circulating terminal complement component concentration	731	C8A	OMIM:613790
HP:0033057	Decreased circulating terminal complement component concentration	735	C9	OMIM:613825
HP:0033057	Decreased circulating terminal complement component concentration	730	C7	OMIM:610102
HP:0033057	Decreased circulating terminal complement component concentration	729	C6	OMIM:612446
HP:0033057	Decreased circulating terminal complement component concentration	727	C5	OMIM:609536
HP:0033058	Decreased circulating complement C7 concentration	730	C7	OMIM:610102
HP:0033059	Decreased circulating complement C6 concentration	729	C6	OMIM:612446
HP:0012221	Pretibial blistering	3852	KRT5	ORPHA:158681
HP:0012221	Pretibial blistering	1280	COL2A1	ORPHA:85198
HP:0012221	Pretibial blistering	1294	COL7A1	ORPHA:79410
HP:0012221	Pretibial blistering	1294	COL7A1	OMIM:131850
HP:0012221	Pretibial blistering	1294	COL7A1	ORPHA:89843
HP:0012221	Pretibial blistering	977	CD151	OMIM:609057
HP:0012225	Oligodontia of primary teeth	5083	PAX9	OMIM:604625
HP:0012226	Ovarian teratoma	4437	MSH3	ORPHA:480536
HP:0012226	Ovarian teratoma	5573	PRKAR1A	ORPHA:1359
HP:0012226	Ovarian teratoma	50940	PDE11A	ORPHA:1359
HP:0012227	Urethral stricture	3655	ITGA6	ORPHA:79403
HP:0012227	Urethral stricture	3691	ITGB4	ORPHA:79403
HP:0012227	Urethral stricture	3909	LAMA3	ORPHA:79404
HP:0012227	Urethral stricture	3918	LAMC2	ORPHA:79404
HP:0012227	Urethral stricture	3914	LAMB3	ORPHA:79404
HP:0012227	Urethral stricture	4312	MMP1	ORPHA:79408
HP:0012227	Urethral stricture	1294	COL7A1	ORPHA:79408
HP:0012227	Urethral stricture	1294	COL7A1	ORPHA:79409
HP:0012227	Urethral stricture	5422	POLA1	OMIM:301220
HP:0012227	Urethral stricture	5317	PKP1	ORPHA:158668
HP:0012227	Urethral stricture	55612	FERMT1	ORPHA:2908
HP:0012227	Urethral stricture	7750	ZMYM2	OMIM:619522
HP:0012227	Urethral stricture	2324	FLT4	OMIM:153100
HP:0012227	Urethral stricture	8318	CDC45	OMIM:617063
HP:0012227	Urethral stricture	26277	TINF2	OMIM:613990
HP:0012227	Urethral stricture	5339	PLEC	OMIM:226670
HP:0012227	Urethral stricture	8195	MKKS	ORPHA:2473
HP:0012227	Urethral stricture	7015	TERT	OMIM:613989
HP:0012229	CSF pleocytosis	79621	RNASEH2B	ORPHA:51
HP:0012229	CSF pleocytosis	79621	RNASEH2B	OMIM:610181
HP:0012229	CSF pleocytosis	100147744	RNU7-1	ORPHA:51
HP:0012229	CSF pleocytosis	64135	IFIH1	ORPHA:51
HP:0012229	CSF pleocytosis	64849	SLC13A3	OMIM:618384
HP:0012229	CSF pleocytosis	103	ADAR	OMIM:615010
HP:0012229	CSF pleocytosis	129607	CMPK2	OMIM:621018
HP:0012229	CSF pleocytosis	773	CACNA1A	ORPHA:569
HP:0012229	CSF pleocytosis	112476	PRRT2	ORPHA:569
HP:0012229	CSF pleocytosis	6323	SCN1A	ORPHA:569
HP:0012229	CSF pleocytosis	477	ATP1A2	ORPHA:569
HP:0012229	CSF pleocytosis	5551	PRF1	ORPHA:540
HP:0012229	CSF pleocytosis	5551	PRF1	OMIM:603553
HP:0012229	CSF pleocytosis	8676	STX11	ORPHA:540
HP:0012229	CSF pleocytosis	201294	UNC13D	ORPHA:540
HP:0012229	CSF pleocytosis	6813	STXBP2	ORPHA:540
HP:0012229	CSF pleocytosis	134353	LSM11	OMIM:619486
HP:0012229	CSF pleocytosis	355	FAS	ORPHA:3437
HP:0012229	CSF pleocytosis	26191	PTPN22	ORPHA:3437
HP:0012229	CSF pleocytosis	100996717	NOTCH2NLC	OMIM:603472
HP:0012229	CSF pleocytosis	11277	TREX1	OMIM:225750
HP:0012229	CSF pleocytosis	3661	IRF3	OMIM:616532
HP:0012229	CSF pleocytosis	10535	RNASEH2A	OMIM:610333
HP:0012229	CSF pleocytosis	25939	SAMHD1	OMIM:612952
HP:0012229	CSF pleocytosis	84153	RNASEH2C	OMIM:610329
HP:0012229	CSF pleocytosis	7187	TRAF3	ORPHA:1930
HP:0012229	CSF pleocytosis	81622	UNC93B1	ORPHA:1930
HP:0012229	CSF pleocytosis	148022	TICAM1	ORPHA:1930
HP:0012229	CSF pleocytosis	7098	TLR3	ORPHA:1930
HP:0012229	CSF pleocytosis	29110	TBK1	ORPHA:1930
HP:0012222	Arachnoid hemangiomatosis	2776	GNAQ	OMIM:185300
HP:0012222	Arachnoid hemangiomatosis	2776	GNAQ	ORPHA:3205
HP:0012222	Arachnoid hemangiomatosis	7428	VHL	ORPHA:29072
HP:0012222	Arachnoid hemangiomatosis	1743	DLST	ORPHA:29072
HP:0012222	Arachnoid hemangiomatosis	4191	MDH2	ORPHA:29072
HP:0012222	Arachnoid hemangiomatosis	5979	RET	ORPHA:29072
HP:0012222	Arachnoid hemangiomatosis	6389	SDHA	ORPHA:29072
HP:0012222	Arachnoid hemangiomatosis	23095	KIF1B	ORPHA:29072
HP:0012222	Arachnoid hemangiomatosis	2271	FH	ORPHA:29072
HP:0012222	Arachnoid hemangiomatosis	8402	SLC25A11	ORPHA:29072
HP:0012222	Arachnoid hemangiomatosis	54949	SDHAF2	ORPHA:29072
HP:0012222	Arachnoid hemangiomatosis	55654	TMEM127	ORPHA:29072
HP:0012222	Arachnoid hemangiomatosis	4763	NF1	ORPHA:29072
HP:0012222	Arachnoid hemangiomatosis	6391	SDHC	ORPHA:29072
HP:0012222	Arachnoid hemangiomatosis	6392	SDHD	ORPHA:29072
HP:0012222	Arachnoid hemangiomatosis	6390	SDHB	ORPHA:29072
HP:0012222	Arachnoid hemangiomatosis	4149	MAX	ORPHA:29072
HP:0012223	Splenic rupture	2266	FGG	OMIM:202400
HP:0012223	Splenic rupture	2243	FGA	OMIM:202400
HP:0012223	Splenic rupture	2244	FGB	OMIM:202400
HP:0012223	Splenic rupture	2629	GBA1	ORPHA:77259
HP:0012223	Splenic rupture	950	SCARB2	ORPHA:77259
HP:0033060	Decreased circulating complement C5 concentration	727	C5	OMIM:609536
HP:0033061	Increased factor IX activity	2158	F9	OMIM:300807
HP:0033062	Abnormal factor IX activity	2677	GGCX	OMIM:277450
HP:0033062	Abnormal factor IX activity	2677	GGCX	OMIM:610842
HP:0033062	Abnormal factor IX activity	2158	F9	OMIM:306900
HP:0033062	Abnormal factor IX activity	5373	PMM2	ORPHA:79318
HP:0033062	Abnormal factor IX activity	2542	SLC37A4	OMIM:619525
HP:0033062	Abnormal factor IX activity	4247	MGAT2	OMIM:212066
HP:0033062	Abnormal factor IX activity	79001	VKORC1	OMIM:607473
HP:0033063	Shortened sleep phase	7337	UBE3A	ORPHA:98794
HP:0033063	Shortened sleep phase	4948	OCA2	ORPHA:98794
HP:0033063	Shortened sleep phase	153	ADRB1	OMIM:618591
HP:0012231	Exudative retinal detachment	3490	IGFBP7	OMIM:614224
HP:0012231	Exudative retinal detachment	2202	EFEMP1	ORPHA:75376
HP:0012231	Exudative retinal detachment	3075	CFH	ORPHA:75376
HP:0012231	Exudative retinal detachment	3426	CFI	ORPHA:75376
HP:0012231	Exudative retinal detachment	2483	FRG1	OMIM:158900
HP:0012232	Shortened QT interval	4221	MEN1	ORPHA:652
HP:0012232	Shortened QT interval	1027	CDKN1B	ORPHA:652
HP:0012232	Shortened QT interval	1026	CDKN1A	ORPHA:652
HP:0012232	Shortened QT interval	1030	CDKN2B	ORPHA:652
HP:0012232	Shortened QT interval	1031	CDKN2C	ORPHA:652
HP:0012232	Shortened QT interval	79577	CDC73	ORPHA:143
HP:0012232	Shortened QT interval	79577	CDC73	ORPHA:99880
HP:0012232	Shortened QT interval	775	CACNA1C	OMIM:611875
HP:0012232	Shortened QT interval	3759	KCNJ2	OMIM:609622
HP:0012232	Shortened QT interval	3759	KCNJ2	ORPHA:51083
HP:0012232	Shortened QT interval	783	CACNB2	OMIM:611876
HP:0012232	Shortened QT interval	781	CACNA2D1	ORPHA:51083
HP:0012232	Shortened QT interval	3784	KCNQ1	ORPHA:51083
HP:0012232	Shortened QT interval	3784	KCNQ1	OMIM:609621
HP:0012232	Shortened QT interval	3757	KCNH2	ORPHA:51083
HP:0012232	Shortened QT interval	3757	KCNH2	OMIM:609620
HP:0012232	Shortened QT interval	6508	SLC4A3	ORPHA:51083
HP:0012232	Shortened QT interval	6508	SLC4A3	OMIM:620231
HP:0012233	Intramuscular hematoma	2157	F8	ORPHA:169805
HP:0012233	Intramuscular hematoma	2157	F8	ORPHA:169802
HP:0012233	Intramuscular hematoma	5345	SERPINF2	ORPHA:79
HP:0012233	Intramuscular hematoma	2165	F13B	ORPHA:331
HP:0012233	Intramuscular hematoma	2162	F13A1	ORPHA:331
HP:0012233	Intramuscular hematoma	5054	SERPINE1	ORPHA:465
HP:0012233	Intramuscular hematoma	2159	F10	OMIM:227600
HP:0012233	Intramuscular hematoma	2159	F10	ORPHA:328
HP:0012233	Intramuscular hematoma	2155	F7	OMIM:227500
HP:0012233	Intramuscular hematoma	2147	F2	ORPHA:325
HP:0012236	Elevated sweat chloride	2517	FUCA1	OMIM:230000
HP:0012236	Elevated sweat chloride	10309	CCNO	OMIM:615872
HP:0012236	Elevated sweat chloride	6804	STX1A	ORPHA:586
HP:0012236	Elevated sweat chloride	2947	GSTM3	ORPHA:586
HP:0012236	Elevated sweat chloride	7040	TGFB1	ORPHA:586
HP:0012236	Elevated sweat chloride	7040	TGFB1	OMIM:219700
HP:0012236	Elevated sweat chloride	2729	GCLC	ORPHA:586
HP:0012236	Elevated sweat chloride	1084	CEACAM3	ORPHA:586
HP:0012236	Elevated sweat chloride	6556	SLC11A1	ORPHA:586
HP:0012236	Elevated sweat chloride	51164	DCTN4	ORPHA:586
HP:0012236	Elevated sweat chloride	3783	KCNN4	ORPHA:586
HP:0012236	Elevated sweat chloride	4282	MIF	ORPHA:586
HP:0012236	Elevated sweat chloride	1909	EDNRA	ORPHA:586
HP:0012236	Elevated sweat chloride	6550	SLC9A3	ORPHA:586
HP:0012236	Elevated sweat chloride	3162	HMOX1	ORPHA:586
HP:0012236	Elevated sweat chloride	115019	SLC26A9	ORPHA:586
HP:0012236	Elevated sweat chloride	3077	HFE	ORPHA:586
HP:0012236	Elevated sweat chloride	11254	SLC6A14	ORPHA:586
HP:0012236	Elevated sweat chloride	5265	SERPINA1	ORPHA:586
HP:0012236	Elevated sweat chloride	1080	CFTR	ORPHA:586
HP:0012236	Elevated sweat chloride	1080	CFTR	OMIM:211400
HP:0012236	Elevated sweat chloride	1080	CFTR	OMIM:219700
HP:0012236	Elevated sweat chloride	22802	CLCA4	ORPHA:586
HP:0012236	Elevated sweat chloride	4680	CEACAM6	ORPHA:586
HP:0012236	Elevated sweat chloride	5406	PNLIP	OMIM:614338
HP:0012236	Elevated sweat chloride	6338	SCNN1B	OMIM:211400
HP:0012236	Elevated sweat chloride	2212	FCGR2A	OMIM:219700
HP:0012236	Elevated sweat chloride	10551	AGR2	OMIM:620233
HP:0012236	Elevated sweat chloride	771	CA12	OMIM:143860
HP:0012236	Elevated sweat chloride	6337	SCNN1A	OMIM:613021
HP:0012237	Urocanic aciduria	131669	UROC1	OMIM:276880
HP:0012237	Urocanic aciduria	131669	UROC1	ORPHA:210128
HP:0012238	Increased circulating chylomicron concentration	344	APOC2	OMIM:207750
HP:0012238	Increased circulating chylomicron concentration	116519	APOA5	OMIM:144650
HP:0012238	Increased circulating chylomicron concentration	338328	GPIHBP1	OMIM:615947
HP:0012238	Increased circulating chylomicron concentration	4023	LPL	OMIM:238600
HP:0012239	Atransferrinemia	7018	TF	OMIM:209300
HP:0012234	Agranulocytosis	1991	ELANE	OMIM:202700
HP:0012234	Agranulocytosis	204	AK2	OMIM:267500
HP:0012234	Agranulocytosis	51311	TLR8	OMIM:301078
HP:0012230	Rhegmatogenous retinal detachment	1280	COL2A1	ORPHA:485
HP:0012230	Rhegmatogenous retinal detachment	1280	COL2A1	OMIM:609508
HP:0012230	Rhegmatogenous retinal detachment	1280	COL2A1	OMIM:619248
HP:0012230	Rhegmatogenous retinal detachment	1297	COL9A1	OMIM:614134
HP:0012230	Rhegmatogenous retinal detachment	4693	NDP	ORPHA:891
HP:0012230	Rhegmatogenous retinal detachment	1499	CTNNB1	ORPHA:891
HP:0012230	Rhegmatogenous retinal detachment	23554	TSPAN12	ORPHA:891
HP:0012230	Rhegmatogenous retinal detachment	4041	LRP5	ORPHA:891
HP:0012230	Rhegmatogenous retinal detachment	79797	ZNF408	ORPHA:891
HP:0012230	Rhegmatogenous retinal detachment	8322	FZD4	ORPHA:891
HP:0012230	Rhegmatogenous retinal detachment	9227	LRAT	ORPHA:364055
HP:0012230	Rhegmatogenous retinal detachment	55812	SPATA7	ORPHA:364055
HP:0012230	Rhegmatogenous retinal detachment	6121	RPE65	ORPHA:364055
HP:0012230	Rhegmatogenous retinal detachment	167691	LCA5	ORPHA:364055
HP:0033072	Abnormal macroscopic urine appearance	340024	SLC6A19	ORPHA:2116
HP:0033072	Abnormal macroscopic urine appearance	57393	CLTRN	ORPHA:2116
HP:0033072	Abnormal macroscopic urine appearance	1244	ABCC2	ORPHA:234
HP:0033072	Abnormal macroscopic urine appearance	7248	TSC1	ORPHA:538
HP:0033072	Abnormal macroscopic urine appearance	7249	TSC2	ORPHA:538
HP:0033072	Abnormal macroscopic urine appearance	1756	DMD	ORPHA:98895
HP:0033072	Abnormal macroscopic urine appearance	4868	NPHS1	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	23607	CD2AP	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	9688	NUP93	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	4643	MYO1E	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	64423	INF2	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	26130	GAPVD1	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	7490	WT1	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	57122	NUP107	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	51479	ANKFY1	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	54443	ANLN	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	5800	PTPRO	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	286204	CRB2	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	23165	NUP205	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	2013	EMP2	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	79023	NUP37	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	51196	PLCE1	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	79902	NUP85	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	1285	COL4A3	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	396	ARHGDIA	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	79934	COQ8B	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	23279	NUP160	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	9863	MAGI2	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	81	ACTN4	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	7225	TRPC6	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	8542	APOL1	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	54885	TBC1D8B	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	7827	NPHS2	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	83478	ARHGAP24	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	23500	DAAM2	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	5076	PAX2	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	55746	NUP133	ORPHA:656
HP:0033072	Abnormal macroscopic urine appearance	7390	UROS	OMIM:263700
HP:0033072	Abnormal macroscopic urine appearance	3145	HMBS	OMIM:620704
HP:0033072	Abnormal macroscopic urine appearance	644	BLVRA	OMIM:614156
HP:0033072	Abnormal macroscopic urine appearance	7389	UROD	ORPHA:95159
HP:0033072	Abnormal macroscopic urine appearance	1371	CPOX	OMIM:618892
HP:0033072	Abnormal macroscopic urine appearance	3081	HGD	ORPHA:56
HP:0033072	Abnormal macroscopic urine appearance	3081	HGD	OMIM:203500
HP:0033072	Abnormal macroscopic urine appearance	286410	ATP11C	OMIM:301015
HP:0033072	Abnormal macroscopic urine appearance	79989	IFT56	OMIM:619534
HP:0033072	Abnormal macroscopic urine appearance	4358	MPV17	OMIM:256810
HP:0033072	Abnormal macroscopic urine appearance	5837	PYGM	OMIM:232600
HP:0033072	Abnormal macroscopic urine appearance	5837	PYGM	ORPHA:368
HP:0033072	Abnormal macroscopic urine appearance	84033	OBSCN	ORPHA:99845
HP:0033072	Abnormal macroscopic urine appearance	23175	LPIN1	ORPHA:99845
HP:0033072	Abnormal macroscopic urine appearance	4512	MT-CO1	ORPHA:99845
HP:0033072	Abnormal macroscopic urine appearance	4514	MT-CO3	ORPHA:99845
HP:0033072	Abnormal macroscopic urine appearance	6775	STAT4	ORPHA:93552
HP:0033072	Abnormal macroscopic urine appearance	6696	SPP1	ORPHA:93552
HP:0033072	Abnormal macroscopic urine appearance	6303	SAT1	ORPHA:93552
HP:0033072	Abnormal macroscopic urine appearance	3654	IRAK1	ORPHA:93552
HP:0033072	Abnormal macroscopic urine appearance	6718	AKR1D1	ORPHA:79303
HP:0033072	Abnormal macroscopic urine appearance	1376	CPT2	ORPHA:228302
HP:0033072	Abnormal macroscopic urine appearance	1376	CPT2	ORPHA:228305
HP:0033072	Abnormal macroscopic urine appearance	1376	CPT2	ORPHA:228308
HP:0033072	Abnormal macroscopic urine appearance	2623	GATA1	ORPHA:79277
HP:0033072	Abnormal macroscopic urine appearance	210	ALAD	ORPHA:100924
HP:0033074	Steroid-responsive anemia	2056	EPO	OMIM:617911
HP:0033074	Steroid-responsive anemia	6141	RPL18	OMIM:618310
HP:0033074	Steroid-responsive anemia	6231	RPS26	OMIM:613309
HP:0033074	Steroid-responsive anemia	11224	RPL35	OMIM:618312
HP:0033075	Inappropriately normal thyroid-stimulating hormone level	8471	IRS4	OMIM:301035
HP:0033075	Inappropriately normal thyroid-stimulating hormone level	7068	THRB	ORPHA:566243
HP:0033075	Inappropriately normal thyroid-stimulating hormone level	6907	TBL1X	OMIM:301033
HP:0033075	Inappropriately normal thyroid-stimulating hormone level	3547	IGSF1	OMIM:300888
HP:0033076	Abnormal circulating free T4 concentration	213	ALB	OMIM:615999
HP:0033076	Abnormal circulating free T4 concentration	7234	TRU-TCA1-1	OMIM:620198
HP:0033076	Abnormal circulating free T4 concentration	7068	THRB	ORPHA:566243
HP:0033076	Abnormal circulating free T4 concentration	7068	THRB	OMIM:274300
HP:0033076	Abnormal circulating free T4 concentration	7068	THRB	OMIM:188570
HP:0033076	Abnormal circulating free T4 concentration	100134444	KCNJ18	OMIM:613239
HP:0033076	Abnormal circulating free T4 concentration	79048	SECISBP2	OMIM:609698
HP:0033076	Abnormal circulating free T4 concentration	8471	IRS4	OMIM:301035
HP:0033076	Abnormal circulating free T4 concentration	1482	NKX2-5	OMIM:225250
HP:0033076	Abnormal circulating free T4 concentration	1363	CPE	OMIM:619326
HP:0033076	Abnormal circulating free T4 concentration	5449	POU1F1	OMIM:613038
HP:0033076	Abnormal circulating free T4 concentration	6907	TBL1X	OMIM:301033
HP:0033076	Abnormal circulating free T4 concentration	8567	MADD	OMIM:619004
HP:0033077	Increased circulating free T4 concentration	7068	THRB	ORPHA:566243
HP:0033077	Increased circulating free T4 concentration	7068	THRB	OMIM:274300
HP:0033077	Increased circulating free T4 concentration	7068	THRB	OMIM:188570
HP:0033077	Increased circulating free T4 concentration	213	ALB	OMIM:615999
HP:0033077	Increased circulating free T4 concentration	100134444	KCNJ18	OMIM:613239
HP:0033077	Increased circulating free T4 concentration	79048	SECISBP2	OMIM:609698
HP:0033077	Increased circulating free T4 concentration	7234	TRU-TCA1-1	OMIM:620198
HP:0033078	Decreased circulating free T4 concentration	8471	IRS4	OMIM:301035
HP:0033078	Decreased circulating free T4 concentration	1482	NKX2-5	OMIM:225250
HP:0033078	Decreased circulating free T4 concentration	1363	CPE	OMIM:619326
HP:0033078	Decreased circulating free T4 concentration	5449	POU1F1	OMIM:613038
HP:0033078	Decreased circulating free T4 concentration	6907	TBL1X	OMIM:301033
HP:0033078	Decreased circulating free T4 concentration	8567	MADD	OMIM:619004
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	8471	IRS4	OMIM:301035
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	2737	GLI3	ORPHA:672
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	84172	POLR1B	ORPHA:861
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	9533	POLR1C	ORPHA:861
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	51082	POLR1D	ORPHA:861
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	6949	TCOF1	ORPHA:861
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	7849	PAX8	OMIM:218700
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	7849	PAX8	ORPHA:95720
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	5626	PROP1	ORPHA:226307
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	89884	LHX4	ORPHA:226307
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	8022	LHX3	ORPHA:226307
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	5449	POU1F1	ORPHA:226307
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	8820	HESX1	ORPHA:226307
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	50814	NSDHL	OMIM:308050
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	92949	ADAMTSL1	ORPHA:521445
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	50506	DUOX2	ORPHA:226316
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	1482	NKX2-5	OMIM:225250
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	2783	GNB2	OMIM:619503
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	7253	TSHR	OMIM:275200
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	7253	TSHR	ORPHA:90673
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	7253	TSHR	ORPHA:95720
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	23522	KAT6B	ORPHA:3047
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	8085	KMT2D	OMIM:620186
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	7201	TRHR	ORPHA:99832
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	5172	SLC26A4	ORPHA:95720
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	7252	TSHB	ORPHA:90674
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	7080	NKX2-1	ORPHA:95713
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	2304	FOXE1	ORPHA:95713
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	2304	FOXE1	OMIM:241850
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	2304	FOXE1	ORPHA:1226
HP:0012242	Superior rectus atrophy	55605	KIF21A	OMIM:135700
HP:0012242	Superior rectus atrophy	10381	TUBB3	OMIM:600638
HP:0012243	Abnormal reproductive system morphology	5566	PRKACA	ORPHA:289
HP:0012243	Abnormal reproductive system morphology	5567	PRKACB	ORPHA:289
HP:0012243	Abnormal reproductive system morphology	2735	GLI1	ORPHA:289
HP:0012243	Abnormal reproductive system morphology	2121	EVC	ORPHA:289
HP:0012243	Abnormal reproductive system morphology	51626	DYNC2LI1	ORPHA:289
HP:0012243	Abnormal reproductive system morphology	132884	EVC2	ORPHA:289
HP:0012243	Abnormal reproductive system morphology	6911	TBX6	ORPHA:1797
HP:0012243	Abnormal reproductive system morphology	80169	CTC1	ORPHA:1775
HP:0012243	Abnormal reproductive system morphology	26277	TINF2	ORPHA:1775
HP:0012243	Abnormal reproductive system morphology	55651	NHP2	ORPHA:1775
HP:0012243	Abnormal reproductive system morphology	79650	USB1	ORPHA:1775
HP:0012243	Abnormal reproductive system morphology	55135	WRAP53	ORPHA:1775
HP:0012243	Abnormal reproductive system morphology	51750	RTEL1	ORPHA:1775
HP:0012243	Abnormal reproductive system morphology	4869	NPM1	ORPHA:1775
HP:0012243	Abnormal reproductive system morphology	7012	TERC	ORPHA:1775
HP:0012243	Abnormal reproductive system morphology	55505	NOP10	ORPHA:1775
HP:0012243	Abnormal reproductive system morphology	5073	PARN	ORPHA:1775
HP:0012243	Abnormal reproductive system morphology	7015	TERT	ORPHA:1775
HP:0012243	Abnormal reproductive system morphology	1736	DKC1	ORPHA:1775
HP:0012243	Abnormal reproductive system morphology	7298	TYMS	ORPHA:1775
HP:0012243	Abnormal reproductive system morphology	134701	RIPPLY2	ORPHA:2311
HP:0012243	Abnormal reproductive system morphology	10683	DLL3	ORPHA:2311
HP:0012243	Abnormal reproductive system morphology	3955	LFNG	ORPHA:2311
HP:0012243	Abnormal reproductive system morphology	84667	HES7	ORPHA:2311
HP:0012243	Abnormal reproductive system morphology	145873	MESP2	ORPHA:2311
HP:0012243	Abnormal reproductive system morphology	7248	TSC1	ORPHA:538
HP:0012243	Abnormal reproductive system morphology	7249	TSC2	ORPHA:538
HP:0012243	Abnormal reproductive system morphology	5979	RET	ORPHA:1848
HP:0012243	Abnormal reproductive system morphology	8516	ITGA8	ORPHA:1848
HP:0012243	Abnormal reproductive system morphology	26281	FGF20	ORPHA:1848
HP:0012243	Abnormal reproductive system morphology	2674	GFRA1	ORPHA:1848
HP:0012243	Abnormal reproductive system morphology	7484	WNT9B	ORPHA:1848
HP:0012243	Abnormal reproductive system morphology	80000	GREB1L	ORPHA:1848
HP:0012243	Abnormal reproductive system morphology	9723	SEMA3E	ORPHA:138
HP:0012243	Abnormal reproductive system morphology	10371	SEMA3A	ORPHA:478
HP:0012243	Abnormal reproductive system morphology	81848	SPRY4	ORPHA:478
HP:0012243	Abnormal reproductive system morphology	23767	FLRT3	ORPHA:478
HP:0012243	Abnormal reproductive system morphology	128674	PROKR2	ORPHA:478
HP:0012243	Abnormal reproductive system morphology	79625	NDNF	ORPHA:478
HP:0012243	Abnormal reproductive system morphology	389549	FEZF1	ORPHA:478
HP:0012243	Abnormal reproductive system morphology	1630	DCC	ORPHA:478
HP:0012243	Abnormal reproductive system morphology	3730	ANOS1	ORPHA:478
HP:0012243	Abnormal reproductive system morphology	54756	IL17RD	ORPHA:478
HP:0012243	Abnormal reproductive system morphology	6663	SOX10	ORPHA:478
HP:0012243	Abnormal reproductive system morphology	285025	CCDC141	ORPHA:478
HP:0012243	Abnormal reproductive system morphology	60675	PROK2	ORPHA:478
HP:0012243	Abnormal reproductive system morphology	1848	DUSP6	ORPHA:478
HP:0012243	Abnormal reproductive system morphology	6870	TACR3	ORPHA:478
HP:0012243	Abnormal reproductive system morphology	55717	WDR11	ORPHA:478
HP:0012243	Abnormal reproductive system morphology	9394	HS6ST1	ORPHA:478
HP:0012243	Abnormal reproductive system morphology	8820	HESX1	ORPHA:478
HP:0012243	Abnormal reproductive system morphology	8822	FGF17	ORPHA:478
HP:0012243	Abnormal reproductive system morphology	50940	PDE11A	ORPHA:1359
HP:0012243	Abnormal reproductive system morphology	668	FOXL2	OMIM:110100
HP:0012243	Abnormal reproductive system morphology	668	FOXL2	ORPHA:572333
HP:0012243	Abnormal reproductive system morphology	668	FOXL2	OMIM:608996
HP:0012243	Abnormal reproductive system morphology	128	ADH5	OMIM:619151
HP:0012243	Abnormal reproductive system morphology	2099	ESR1	ORPHA:785
HP:0012243	Abnormal reproductive system morphology	2099	ESR1	OMIM:615363
HP:0012243	Abnormal reproductive system morphology	317761	C14orf39	OMIM:619203
HP:0012243	Abnormal reproductive system morphology	8192	CLPP	OMIM:614129
HP:0012243	Abnormal reproductive system morphology	658	BMPR1B	OMIM:609441
HP:0012243	Abnormal reproductive system morphology	26284	ERAL1	OMIM:617565
HP:0012243	Abnormal reproductive system morphology	51199	NIN	OMIM:614851
HP:0012243	Abnormal reproductive system morphology	23395	LARS2	OMIM:615300
HP:0012243	Abnormal reproductive system morphology	344018	FIGLA	OMIM:612310
HP:0012243	Abnormal reproductive system morphology	3081	HGD	ORPHA:56
HP:0012243	Abnormal reproductive system morphology	695	BTK	OMIM:300755
HP:0012243	Abnormal reproductive system morphology	695	BTK	OMIM:307200
HP:0012243	Abnormal reproductive system morphology	1493	CTLA4	ORPHA:900
HP:0012243	Abnormal reproductive system morphology	26191	PTPN22	ORPHA:900
HP:0012243	Abnormal reproductive system morphology	3115	HLA-DPB1	ORPHA:900
HP:0012243	Abnormal reproductive system morphology	5657	PRTN3	ORPHA:900
HP:0012243	Abnormal reproductive system morphology	3113	HLA-DPA1	ORPHA:900
HP:0012243	Abnormal reproductive system morphology	23394	ADNP	ORPHA:404448
HP:0012243	Abnormal reproductive system morphology	23394	ADNP	OMIM:615873
HP:0012243	Abnormal reproductive system morphology	26235	FBXL4	OMIM:615471
HP:0012243	Abnormal reproductive system morphology	8216	LZTR1	OMIM:616564
HP:0012243	Abnormal reproductive system morphology	8216	LZTR1	OMIM:605275
HP:0012243	Abnormal reproductive system morphology	8216	LZTR1	ORPHA:648
HP:0012243	Abnormal reproductive system morphology	1763	DNA2	OMIM:620819
HP:0012243	Abnormal reproductive system morphology	23135	KDM6B	OMIM:618505
HP:0012243	Abnormal reproductive system morphology	1024	CDK8	OMIM:618748
HP:0012243	Abnormal reproductive system morphology	91801	ALKBH8	OMIM:618504
HP:0012243	Abnormal reproductive system morphology	1788	DNMT3A	ORPHA:404443
HP:0012243	Abnormal reproductive system morphology	7258	TSPY1	ORPHA:1646
HP:0012243	Abnormal reproductive system morphology	57055	DAZ2	ORPHA:1646
HP:0012243	Abnormal reproductive system morphology	57135	DAZ4	ORPHA:1646
HP:0012243	Abnormal reproductive system morphology	8287	USP9Y	ORPHA:1646
HP:0012243	Abnormal reproductive system morphology	5940	RBMY1A1	ORPHA:1646
HP:0012243	Abnormal reproductive system morphology	57054	DAZ3	ORPHA:1646
HP:0012243	Abnormal reproductive system morphology	8653	DDX3Y	ORPHA:1646
HP:0012243	Abnormal reproductive system morphology	1617	DAZ1	ORPHA:1646
HP:0012243	Abnormal reproductive system morphology	55209	SETD5	ORPHA:404440
HP:0012243	Abnormal reproductive system morphology	9578	CDC42BPB	OMIM:619841
HP:0012243	Abnormal reproductive system morphology	80816	ASXL3	OMIM:615485
HP:0012243	Abnormal reproductive system morphology	1841	DTYMK	OMIM:619847
HP:0012243	Abnormal reproductive system morphology	55690	PACS1	OMIM:615009
HP:0012243	Abnormal reproductive system morphology	55690	PACS1	ORPHA:329224
HP:0012243	Abnormal reproductive system morphology	55904	KMT2E	OMIM:618512
HP:0012243	Abnormal reproductive system morphology	9968	MED12	ORPHA:2728
HP:0012243	Abnormal reproductive system morphology	9968	MED12	ORPHA:93932
HP:0012243	Abnormal reproductive system morphology	9968	MED12	OMIM:305450
HP:0012243	Abnormal reproductive system morphology	9968	MED12	OMIM:300895
HP:0012243	Abnormal reproductive system morphology	2132	EXT2	ORPHA:466926
HP:0012243	Abnormal reproductive system morphology	2132	EXT2	OMIM:616682
HP:0012243	Abnormal reproductive system morphology	10908	PNPLA6	OMIM:275400
HP:0012243	Abnormal reproductive system morphology	10908	PNPLA6	ORPHA:2377
HP:0012243	Abnormal reproductive system morphology	10908	PNPLA6	ORPHA:3363
HP:0012243	Abnormal reproductive system morphology	1161	ERCC8	OMIM:216400
HP:0012243	Abnormal reproductive system morphology	1161	ERCC8	ORPHA:90321
HP:0012243	Abnormal reproductive system morphology	1161	ERCC8	ORPHA:90322
HP:0012243	Abnormal reproductive system morphology	2192	FBLN1	ORPHA:404451
HP:0012243	Abnormal reproductive system morphology	284403	WDR62	OMIM:604317
HP:0012243	Abnormal reproductive system morphology	3190	HNRNPK	OMIM:616580
HP:0012243	Abnormal reproductive system morphology	3190	HNRNPK	ORPHA:453504
HP:0012243	Abnormal reproductive system morphology	3190	HNRNPK	ORPHA:352665
HP:0012243	Abnormal reproductive system morphology	54453	RIN2	OMIM:613075
HP:0012243	Abnormal reproductive system morphology	54453	RIN2	ORPHA:217335
HP:0012243	Abnormal reproductive system morphology	113189	CHST14	ORPHA:2953
HP:0012243	Abnormal reproductive system morphology	113189	CHST14	OMIM:601776
HP:0012243	Abnormal reproductive system morphology	29940	DSE	ORPHA:2953
HP:0012243	Abnormal reproductive system morphology	7994	KAT6A	ORPHA:457193
HP:0012243	Abnormal reproductive system morphology	55681	SCYL2	OMIM:618766
HP:0012243	Abnormal reproductive system morphology	10484	SEC23A	OMIM:607812
HP:0012243	Abnormal reproductive system morphology	23327	NEDD4L	OMIM:617201
HP:0012243	Abnormal reproductive system morphology	8036	SHOC2	ORPHA:2701
HP:0012243	Abnormal reproductive system morphology	8036	SHOC2	OMIM:607721
HP:0012243	Abnormal reproductive system morphology	5500	PPP1CB	ORPHA:2701
HP:0012243	Abnormal reproductive system morphology	5500	PPP1CB	OMIM:617506
HP:0012243	Abnormal reproductive system morphology	9860	LRIG2	ORPHA:2704
HP:0012243	Abnormal reproductive system morphology	60495	HPSE2	ORPHA:2704
HP:0012243	Abnormal reproductive system morphology	60495	HPSE2	OMIM:236730
HP:0012243	Abnormal reproductive system morphology	11193	WBP4	OMIM:620852
HP:0012243	Abnormal reproductive system morphology	92482	BBIP1	ORPHA:110
HP:0012243	Abnormal reproductive system morphology	49855	SCAPER	ORPHA:110
HP:0012243	Abnormal reproductive system morphology	4867	NPHP1	ORPHA:110
HP:0012243	Abnormal reproductive system morphology	51057	WDPCP	ORPHA:110
HP:0012243	Abnormal reproductive system morphology	51057	WDPCP	ORPHA:1338
HP:0012243	Abnormal reproductive system morphology	132320	SCLT1	ORPHA:110
HP:0012243	Abnormal reproductive system morphology	27241	BBS9	ORPHA:110
HP:0012243	Abnormal reproductive system morphology	84984	CEP19	ORPHA:110
HP:0012243	Abnormal reproductive system morphology	22954	TRIM32	ORPHA:110
HP:0012243	Abnormal reproductive system morphology	79738	BBS10	ORPHA:110
HP:0012243	Abnormal reproductive system morphology	123016	TTC8	ORPHA:110
HP:0012243	Abnormal reproductive system morphology	26160	IFT172	ORPHA:110
HP:0012243	Abnormal reproductive system morphology	54585	LZTFL1	ORPHA:110
HP:0012243	Abnormal reproductive system morphology	55212	BBS7	ORPHA:110
HP:0012243	Abnormal reproductive system morphology	157657	CFAP418	ORPHA:110
HP:0012243	Abnormal reproductive system morphology	80173	IFT74	ORPHA:110
HP:0012243	Abnormal reproductive system morphology	23512	SUZ12	OMIM:618786
HP:0012243	Abnormal reproductive system morphology	23512	SUZ12	ORPHA:3447
HP:0012243	Abnormal reproductive system morphology	6905	TBCE	OMIM:241410
HP:0012243	Abnormal reproductive system morphology	6905	TBCE	ORPHA:2323
HP:0012243	Abnormal reproductive system morphology	23126	POGZ	OMIM:616364
HP:0012243	Abnormal reproductive system morphology	51633	OTUD6B	OMIM:617452
HP:0012243	Abnormal reproductive system morphology	51633	OTUD6B	ORPHA:505237
HP:0012243	Abnormal reproductive system morphology	27125	AFF4	OMIM:616368
HP:0012243	Abnormal reproductive system morphology	1859	DYRK1A	ORPHA:464311
HP:0012243	Abnormal reproductive system morphology	1859	DYRK1A	ORPHA:268261
HP:0012243	Abnormal reproductive system morphology	79718	TBL1XR1	OMIM:602342
HP:0012243	Abnormal reproductive system morphology	79718	TBL1XR1	ORPHA:487825
HP:0012243	Abnormal reproductive system morphology	55210	ATAD3A	ORPHA:496790
HP:0012243	Abnormal reproductive system morphology	641	BLM	OMIM:210900
HP:0012243	Abnormal reproductive system morphology	9772	TMEM94	OMIM:618316
HP:0012243	Abnormal reproductive system morphology	57688	ZSWIM6	OMIM:603671
HP:0012243	Abnormal reproductive system morphology	57688	ZSWIM6	ORPHA:1827
HP:0012243	Abnormal reproductive system morphology	8643	PTCH2	ORPHA:377
HP:0012243	Abnormal reproductive system morphology	2239	GPC4	ORPHA:373
HP:0012243	Abnormal reproductive system morphology	2239	GPC4	OMIM:312870
HP:0012243	Abnormal reproductive system morphology	2719	GPC3	ORPHA:373
HP:0012243	Abnormal reproductive system morphology	2719	GPC3	ORPHA:654
HP:0012243	Abnormal reproductive system morphology	2719	GPC3	OMIM:312870
HP:0012243	Abnormal reproductive system morphology	23483	TGDS	OMIM:616145
HP:0012243	Abnormal reproductive system morphology	84295	PHF6	ORPHA:127
HP:0012243	Abnormal reproductive system morphology	84295	PHF6	OMIM:301900
HP:0012243	Abnormal reproductive system morphology	56246	MRAP	ORPHA:361
HP:0012243	Abnormal reproductive system morphology	6770	STAR	ORPHA:361
HP:0012243	Abnormal reproductive system morphology	4158	MC2R	ORPHA:361
HP:0012243	Abnormal reproductive system morphology	23530	NNT	ORPHA:361
HP:0012243	Abnormal reproductive system morphology	23530	NNT	OMIM:614736
HP:0012243	Abnormal reproductive system morphology	10587	TXNRD2	ORPHA:361
HP:0012243	Abnormal reproductive system morphology	1387	CREBBP	OMIM:618332
HP:0012243	Abnormal reproductive system morphology	1387	CREBBP	ORPHA:353281
HP:0012243	Abnormal reproductive system morphology	1387	CREBBP	OMIM:180849
HP:0012243	Abnormal reproductive system morphology	1387	CREBBP	ORPHA:353277
HP:0012243	Abnormal reproductive system morphology	1387	CREBBP	ORPHA:592574
HP:0012243	Abnormal reproductive system morphology	60529	ALX4	ORPHA:228390
HP:0012243	Abnormal reproductive system morphology	5081	PAX7	OMIM:618578
HP:0012243	Abnormal reproductive system morphology	389827	MYMK	OMIM:254940
HP:0012243	Abnormal reproductive system morphology	7291	TWIST1	ORPHA:794
HP:0012243	Abnormal reproductive system morphology	2261	FGFR3	ORPHA:794
HP:0012243	Abnormal reproductive system morphology	2261	FGFR3	ORPHA:2363
HP:0012243	Abnormal reproductive system morphology	9361	LONP1	OMIM:600373
HP:0012243	Abnormal reproductive system morphology	6134	RPL10	OMIM:300998
HP:0012243	Abnormal reproductive system morphology	6134	RPL10	ORPHA:435938
HP:0012243	Abnormal reproductive system morphology	6134	RPL10	ORPHA:459070
HP:0012243	Abnormal reproductive system morphology	56896	DPYSL5	OMIM:619435
HP:0012243	Abnormal reproductive system morphology	8473	OGT	OMIM:300997
HP:0012243	Abnormal reproductive system morphology	10765	KDM5B	OMIM:618109
HP:0012243	Abnormal reproductive system morphology	1798	DPAGT1	OMIM:608093
HP:0012243	Abnormal reproductive system morphology	2972	BRF1	ORPHA:444072
HP:0012243	Abnormal reproductive system morphology	2972	BRF1	OMIM:616202
HP:0012243	Abnormal reproductive system morphology	122402	TDRD9	OMIM:618110
HP:0012243	Abnormal reproductive system morphology	4952	OCRL	ORPHA:534
HP:0012243	Abnormal reproductive system morphology	4952	OCRL	OMIM:309000
HP:0012243	Abnormal reproductive system morphology	1281	COL3A1	OMIM:130050
HP:0012243	Abnormal reproductive system morphology	1281	COL3A1	ORPHA:286
HP:0012243	Abnormal reproductive system morphology	29925	GMPPB	ORPHA:370968
HP:0012243	Abnormal reproductive system morphology	4784	NFIX	OMIM:602535
HP:0012243	Abnormal reproductive system morphology	3039	HBA1	ORPHA:98791
HP:0012243	Abnormal reproductive system morphology	3040	HBA2	ORPHA:98791
HP:0012243	Abnormal reproductive system morphology	84340	GFM2	ORPHA:565624
HP:0012243	Abnormal reproductive system morphology	51132	RLIM	OMIM:300978
HP:0012243	Abnormal reproductive system morphology	4998	ORC1	OMIM:224690
HP:0012243	Abnormal reproductive system morphology	4998	ORC1	ORPHA:2554
HP:0012243	Abnormal reproductive system morphology	6601	SMARCC2	OMIM:618362
HP:0012243	Abnormal reproductive system morphology	6601	SMARCC2	ORPHA:1465
HP:0012243	Abnormal reproductive system morphology	8260	NAA10	ORPHA:568
HP:0012243	Abnormal reproductive system morphology	8260	NAA10	OMIM:309800
HP:0012243	Abnormal reproductive system morphology	8260	NAA10	OMIM:300855
HP:0012243	Abnormal reproductive system morphology	8260	NAA10	ORPHA:276432
HP:0012243	Abnormal reproductive system morphology	54880	BCOR	ORPHA:568
HP:0012243	Abnormal reproductive system morphology	54880	BCOR	OMIM:300166
HP:0012243	Abnormal reproductive system morphology	54880	BCOR	OMIM:309800
HP:0012243	Abnormal reproductive system morphology	7317	UBA1	OMIM:301830
HP:0012243	Abnormal reproductive system morphology	7317	UBA1	ORPHA:1145
HP:0012243	Abnormal reproductive system morphology	6874	TAF4	OMIM:620450
HP:0012243	Abnormal reproductive system morphology	11285	B4GALT7	ORPHA:75496
HP:0012243	Abnormal reproductive system morphology	55605	KIF21A	ORPHA:994
HP:0012243	Abnormal reproductive system morphology	4927	NUP88	ORPHA:994
HP:0012243	Abnormal reproductive system morphology	4927	NUP88	OMIM:618393
HP:0012243	Abnormal reproductive system morphology	7846	TUBA1A	ORPHA:994
HP:0012243	Abnormal reproductive system morphology	4654	MYOD1	ORPHA:994
HP:0012243	Abnormal reproductive system morphology	4593	MUSK	ORPHA:994
HP:0012243	Abnormal reproductive system morphology	4593	MUSK	OMIM:208150
HP:0012243	Abnormal reproductive system morphology	5913	RAPSN	ORPHA:994
HP:0012243	Abnormal reproductive system morphology	5913	RAPSN	OMIM:618388
HP:0012243	Abnormal reproductive system morphology	6572	SLC18A3	ORPHA:994
HP:0012243	Abnormal reproductive system morphology	285489	DOK7	ORPHA:994
HP:0012243	Abnormal reproductive system morphology	54809	SAMD9	OMIM:617053
HP:0012243	Abnormal reproductive system morphology	57187	THOC2	OMIM:300957
HP:0012243	Abnormal reproductive system morphology	134218	DNAJC21	OMIM:617052
HP:0012243	Abnormal reproductive system morphology	57061	HYMAI	ORPHA:96191
HP:0012243	Abnormal reproductive system morphology	5325	PLAGL1	ORPHA:96191
HP:0012243	Abnormal reproductive system morphology	2892	GRIA3	ORPHA:364028
HP:0012243	Abnormal reproductive system morphology	94005	PIGS	OMIM:618143
HP:0012243	Abnormal reproductive system morphology	80036	TRPM3	OMIM:620224
HP:0012243	Abnormal reproductive system morphology	5781	PTPN11	ORPHA:500
HP:0012243	Abnormal reproductive system morphology	5781	PTPN11	ORPHA:648
HP:0012243	Abnormal reproductive system morphology	5781	PTPN11	OMIM:151100
HP:0012243	Abnormal reproductive system morphology	5781	PTPN11	OMIM:163950
HP:0012243	Abnormal reproductive system morphology	5894	RAF1	ORPHA:500
HP:0012243	Abnormal reproductive system morphology	5894	RAF1	ORPHA:626
HP:0012243	Abnormal reproductive system morphology	5894	RAF1	ORPHA:648
HP:0012243	Abnormal reproductive system morphology	5894	RAF1	OMIM:611553
HP:0012243	Abnormal reproductive system morphology	2317	FLNB	ORPHA:503
HP:0012243	Abnormal reproductive system morphology	2317	FLNB	ORPHA:1263
HP:0012243	Abnormal reproductive system morphology	2317	FLNB	OMIM:108720
HP:0012243	Abnormal reproductive system morphology	2317	FLNB	OMIM:150250
HP:0012243	Abnormal reproductive system morphology	10283	CWC27	ORPHA:166035
HP:0012243	Abnormal reproductive system morphology	2887	GRB10	ORPHA:96182
HP:0012243	Abnormal reproductive system morphology	10682	EBP	OMIM:300960
HP:0012243	Abnormal reproductive system morphology	10682	EBP	ORPHA:401973
HP:0012243	Abnormal reproductive system morphology	51360	MBTPS2	OMIM:308205
HP:0012243	Abnormal reproductive system morphology	51360	MBTPS2	ORPHA:85284
HP:0012243	Abnormal reproductive system morphology	51360	MBTPS2	ORPHA:2273
HP:0012243	Abnormal reproductive system morphology	8567	MADD	OMIM:619004
HP:0012243	Abnormal reproductive system morphology	8567	MADD	OMIM:619005
HP:0012243	Abnormal reproductive system morphology	4841	NONO	OMIM:300967
HP:0012243	Abnormal reproductive system morphology	4841	NONO	ORPHA:466791
HP:0012243	Abnormal reproductive system morphology	8318	CDC45	OMIM:617063
HP:0012243	Abnormal reproductive system morphology	8318	CDC45	ORPHA:2554
HP:0012243	Abnormal reproductive system morphology	28952	CCDC22	OMIM:300963
HP:0012243	Abnormal reproductive system morphology	23112	TNRC6B	OMIM:619243
HP:0012243	Abnormal reproductive system morphology	91875	TTC5	OMIM:619244
HP:0012243	Abnormal reproductive system morphology	7169	TPM2	OMIM:108120
HP:0012243	Abnormal reproductive system morphology	201595	STT3B	ORPHA:370924
HP:0012243	Abnormal reproductive system morphology	201595	STT3B	OMIM:615597
HP:0012243	Abnormal reproductive system morphology	4081	MAB21L1	ORPHA:495875
HP:0012243	Abnormal reproductive system morphology	8242	KDM5C	ORPHA:85279
HP:0012243	Abnormal reproductive system morphology	8242	KDM5C	OMIM:300534
HP:0012243	Abnormal reproductive system morphology	23133	PHF8	ORPHA:85287
HP:0012243	Abnormal reproductive system morphology	284058	KANSL1	OMIM:610443
HP:0012243	Abnormal reproductive system morphology	284058	KANSL1	ORPHA:363958
HP:0012243	Abnormal reproductive system morphology	284058	KANSL1	ORPHA:363965
HP:0012243	Abnormal reproductive system morphology	5557	PRIM1	OMIM:620005
HP:0012243	Abnormal reproductive system morphology	55294	FBXW7	OMIM:620012
HP:0012243	Abnormal reproductive system morphology	6657	SOX2	ORPHA:3157
HP:0012243	Abnormal reproductive system morphology	6657	SOX2	OMIM:206900
HP:0012243	Abnormal reproductive system morphology	6657	SOX2	ORPHA:77298
HP:0012243	Abnormal reproductive system morphology	9915	ARNT2	ORPHA:3157
HP:0012243	Abnormal reproductive system morphology	9915	ARNT2	OMIM:615926
HP:0012243	Abnormal reproductive system morphology	5015	OTX2	ORPHA:3157
HP:0012243	Abnormal reproductive system morphology	5015	OTX2	OMIM:610125
HP:0012243	Abnormal reproductive system morphology	8085	KMT2D	OMIM:147920
HP:0012243	Abnormal reproductive system morphology	8085	KMT2D	ORPHA:2322
HP:0012243	Abnormal reproductive system morphology	7403	KDM6A	OMIM:147920
HP:0012243	Abnormal reproductive system morphology	7403	KDM6A	ORPHA:2322
HP:0012243	Abnormal reproductive system morphology	6095	RORA	OMIM:618060
HP:0012243	Abnormal reproductive system morphology	8450	CUL4B	OMIM:300354
HP:0012243	Abnormal reproductive system morphology	23241	PACS2	OMIM:618067
HP:0012243	Abnormal reproductive system morphology	7518	XRCC4	ORPHA:99812
HP:0012243	Abnormal reproductive system morphology	7518	XRCC4	OMIM:616541
HP:0012243	Abnormal reproductive system morphology	9839	ZEB2	OMIM:235730
HP:0012243	Abnormal reproductive system morphology	9839	ZEB2	ORPHA:261552
HP:0012243	Abnormal reproductive system morphology	9839	ZEB2	ORPHA:261537
HP:0012243	Abnormal reproductive system morphology	9839	ZEB2	ORPHA:626
HP:0012243	Abnormal reproductive system morphology	64324	NSD1	ORPHA:821
HP:0012243	Abnormal reproductive system morphology	64324	NSD1	OMIM:117550
HP:0012243	Abnormal reproductive system morphology	64324	NSD1	ORPHA:3447
HP:0012243	Abnormal reproductive system morphology	10297	APC2	ORPHA:821
HP:0012243	Abnormal reproductive system morphology	9401	RECQL4	OMIM:268400
HP:0012243	Abnormal reproductive system morphology	9401	RECQL4	ORPHA:221016
HP:0012243	Abnormal reproductive system morphology	4010	LMX1B	ORPHA:495818
HP:0012243	Abnormal reproductive system morphology	6812	STXBP1	ORPHA:495818
HP:0012243	Abnormal reproductive system morphology	79947	DHDDS	OMIM:613861
HP:0012243	Abnormal reproductive system morphology	10978	CLP1	OMIM:615803
HP:0012243	Abnormal reproductive system morphology	9382	COG1	OMIM:611209
HP:0012243	Abnormal reproductive system morphology	84690	SPATA22	OMIM:621001
HP:0012243	Abnormal reproductive system morphology	80204	FBXO11	OMIM:618089
HP:0012243	Abnormal reproductive system morphology	23522	KAT6B	OMIM:606170
HP:0012243	Abnormal reproductive system morphology	23522	KAT6B	ORPHA:85201
HP:0012243	Abnormal reproductive system morphology	23522	KAT6B	OMIM:603736
HP:0012243	Abnormal reproductive system morphology	23522	KAT6B	ORPHA:3047
HP:0012243	Abnormal reproductive system morphology	92579	G6PC3	OMIM:612541
HP:0012243	Abnormal reproductive system morphology	412	STS	ORPHA:281090
HP:0012243	Abnormal reproductive system morphology	412	STS	ORPHA:461
HP:0012243	Abnormal reproductive system morphology	412	STS	OMIM:308100
HP:0012243	Abnormal reproductive system morphology	93627	TBCK	OMIM:616900
HP:0012243	Abnormal reproductive system morphology	93627	TBCK	ORPHA:488632
HP:0012243	Abnormal reproductive system morphology	23116	TOGARAM1	OMIM:619185
HP:0012243	Abnormal reproductive system morphology	84823	LMNB2	OMIM:619180
HP:0012243	Abnormal reproductive system morphology	9896	FIG4	ORPHA:3472
HP:0012243	Abnormal reproductive system morphology	9896	FIG4	OMIM:216340
HP:0012243	Abnormal reproductive system morphology	55697	VAC14	ORPHA:3472
HP:0012243	Abnormal reproductive system morphology	55148	UBR7	OMIM:619189
HP:0012243	Abnormal reproductive system morphology	23545	ATP6V0A2	OMIM:278250
HP:0012243	Abnormal reproductive system morphology	23545	ATP6V0A2	ORPHA:2834
HP:0012243	Abnormal reproductive system morphology	84300	UQCC2	OMIM:615824
HP:0012243	Abnormal reproductive system morphology	83879	CDCA7	OMIM:616910
HP:0012243	Abnormal reproductive system morphology	79053	ALG8	OMIM:608104
HP:0012243	Abnormal reproductive system morphology	7468	NSD2	OMIM:194190
HP:0012243	Abnormal reproductive system morphology	7468	NSD2	ORPHA:280
HP:0012243	Abnormal reproductive system morphology	10815	CPLX1	OMIM:194190
HP:0012243	Abnormal reproductive system morphology	10815	CPLX1	ORPHA:280
HP:0012243	Abnormal reproductive system morphology	1487	CTBP1	OMIM:194190
HP:0012243	Abnormal reproductive system morphology	1487	CTBP1	ORPHA:280
HP:0012243	Abnormal reproductive system morphology	53834	FGFRL1	OMIM:194190
HP:0012243	Abnormal reproductive system morphology	3954	LETM1	OMIM:194190
HP:0012243	Abnormal reproductive system morphology	3954	LETM1	ORPHA:280
HP:0012243	Abnormal reproductive system morphology	54496	PRMT7	ORPHA:464288
HP:0012243	Abnormal reproductive system morphology	165	AEBP1	ORPHA:536532
HP:0012243	Abnormal reproductive system morphology	165	AEBP1	OMIM:618000
HP:0012243	Abnormal reproductive system morphology	9653	HS2ST1	OMIM:619194
HP:0012243	Abnormal reproductive system morphology	64327	LMBR1	ORPHA:2378
HP:0012243	Abnormal reproductive system morphology	23345	SYNE1	ORPHA:319332
HP:0012243	Abnormal reproductive system morphology	23345	SYNE1	OMIM:618484
HP:0012243	Abnormal reproductive system morphology	89884	LHX4	ORPHA:95496
HP:0012243	Abnormal reproductive system morphology	6091	ROBO1	ORPHA:95496
HP:0012243	Abnormal reproductive system morphology	6091	ROBO1	OMIM:620305
HP:0012243	Abnormal reproductive system morphology	23432	GPR161	ORPHA:95496
HP:0012243	Abnormal reproductive system morphology	11128	POLR3A	OMIM:264090
HP:0012243	Abnormal reproductive system morphology	11128	POLR3A	ORPHA:3455
HP:0012243	Abnormal reproductive system morphology	4094	MAF	ORPHA:1272
HP:0012243	Abnormal reproductive system morphology	10436	EMG1	ORPHA:1270
HP:0012243	Abnormal reproductive system morphology	81887	LAS1L	ORPHA:3459
HP:0012243	Abnormal reproductive system morphology	81887	LAS1L	OMIM:309585
HP:0012243	Abnormal reproductive system morphology	3708	ITPR1	OMIM:117360
HP:0012243	Abnormal reproductive system morphology	2255	FGF10	ORPHA:2363
HP:0012243	Abnormal reproductive system morphology	5422	POLA1	ORPHA:163976
HP:0012243	Abnormal reproductive system morphology	6949	TCOF1	OMIM:154500
HP:0012243	Abnormal reproductive system morphology	6949	TCOF1	ORPHA:861
HP:0012243	Abnormal reproductive system morphology	6611	SMS	OMIM:309583
HP:0012243	Abnormal reproductive system morphology	6611	SMS	ORPHA:3063
HP:0012243	Abnormal reproductive system morphology	2146	EZH2	OMIM:277590
HP:0012243	Abnormal reproductive system morphology	2146	EZH2	ORPHA:3447
HP:0012243	Abnormal reproductive system morphology	147372	CCBE1	OMIM:235510
HP:0012243	Abnormal reproductive system morphology	6567	SLC16A2	ORPHA:59
HP:0012243	Abnormal reproductive system morphology	55023	PHIP	ORPHA:589905
HP:0012243	Abnormal reproductive system morphology	55023	PHIP	OMIM:617991
HP:0012243	Abnormal reproductive system morphology	29123	ANKRD11	OMIM:148050
HP:0012243	Abnormal reproductive system morphology	29123	ANKRD11	ORPHA:2332
HP:0012243	Abnormal reproductive system morphology	29123	ANKRD11	ORPHA:261250
HP:0012243	Abnormal reproductive system morphology	7319	UBE2A	ORPHA:163956
HP:0012243	Abnormal reproductive system morphology	3640	INSL3	OMIM:219050
HP:0012243	Abnormal reproductive system morphology	84181	CHD6	ORPHA:2108
HP:0012243	Abnormal reproductive system morphology	10075	HUWE1	OMIM:309590
HP:0012243	Abnormal reproductive system morphology	2245	FGD1	OMIM:305400
HP:0012243	Abnormal reproductive system morphology	2245	FGD1	ORPHA:915
HP:0012243	Abnormal reproductive system morphology	23028	KDM1A	OMIM:616728
HP:0012243	Abnormal reproductive system morphology	23028	KDM1A	ORPHA:477993
HP:0012243	Abnormal reproductive system morphology	55593	OTUD5	OMIM:301056
HP:0012243	Abnormal reproductive system morphology	4854	NOTCH3	OMIM:130720
HP:0012243	Abnormal reproductive system morphology	4854	NOTCH3	ORPHA:2789
HP:0012243	Abnormal reproductive system morphology	131118	DNAJC19	OMIM:610198
HP:0012243	Abnormal reproductive system morphology	998	CDC42	OMIM:616737
HP:0012243	Abnormal reproductive system morphology	2891	GRIA2	OMIM:618917
HP:0012243	Abnormal reproductive system morphology	10560	SLC19A2	OMIM:249270
HP:0012243	Abnormal reproductive system morphology	6597	SMARCA4	ORPHA:1465
HP:0012243	Abnormal reproductive system morphology	6598	SMARCB1	ORPHA:1465
HP:0012243	Abnormal reproductive system morphology	6659	SOX4	ORPHA:1465
HP:0012243	Abnormal reproductive system morphology	8289	ARID1A	ORPHA:1465
HP:0012243	Abnormal reproductive system morphology	8289	ARID1A	OMIM:614607
HP:0012243	Abnormal reproductive system morphology	5977	DPF2	ORPHA:1465
HP:0012243	Abnormal reproductive system morphology	6602	SMARCD1	ORPHA:1465
HP:0012243	Abnormal reproductive system morphology	196528	ARID2	ORPHA:1465
HP:0012243	Abnormal reproductive system morphology	6605	SMARCE1	ORPHA:1465
HP:0012243	Abnormal reproductive system morphology	6664	SOX11	ORPHA:1465
HP:0012243	Abnormal reproductive system morphology	259232	NALCN	OMIM:615419
HP:0012243	Abnormal reproductive system morphology	259232	NALCN	ORPHA:2053
HP:0012243	Abnormal reproductive system morphology	81620	CDT1	ORPHA:2554
HP:0012243	Abnormal reproductive system morphology	81620	CDT1	OMIM:613804
HP:0012243	Abnormal reproductive system morphology	5000	ORC4	ORPHA:2554
HP:0012243	Abnormal reproductive system morphology	23594	ORC6	ORPHA:2554
HP:0012243	Abnormal reproductive system morphology	23594	ORC6	OMIM:613803
HP:0012243	Abnormal reproductive system morphology	990	CDC6	ORPHA:2554
HP:0012243	Abnormal reproductive system morphology	990	CDC6	OMIM:613805
HP:0012243	Abnormal reproductive system morphology	51053	GMNN	ORPHA:2554
HP:0012243	Abnormal reproductive system morphology	51053	GMNN	OMIM:616835
HP:0012243	Abnormal reproductive system morphology	1000	CDH2	OMIM:618929
HP:0012243	Abnormal reproductive system morphology	79576	NKAP	OMIM:301039
HP:0012243	Abnormal reproductive system morphology	25	ABL1	OMIM:617602
HP:0012243	Abnormal reproductive system morphology	545	ATR	OMIM:210600
HP:0012243	Abnormal reproductive system morphology	128637	TBC1D20	OMIM:615663
HP:0012243	Abnormal reproductive system morphology	128637	TBC1D20	ORPHA:2510
HP:0012243	Abnormal reproductive system morphology	2313	FLI1	ORPHA:2308
HP:0012243	Abnormal reproductive system morphology	64840	PORCN	OMIM:305600
HP:0012243	Abnormal reproductive system morphology	10664	CTCF	ORPHA:363611
HP:0012243	Abnormal reproductive system morphology	10664	CTCF	OMIM:615502
HP:0012243	Abnormal reproductive system morphology	157680	VPS13B	ORPHA:193
HP:0012243	Abnormal reproductive system morphology	25914	RTTN	ORPHA:468631
HP:0012243	Abnormal reproductive system morphology	55617	TASP1	OMIM:618950
HP:0012243	Abnormal reproductive system morphology	28957	MRPS28	OMIM:618958
HP:0012243	Abnormal reproductive system morphology	652	BMP4	ORPHA:139471
HP:0012243	Abnormal reproductive system morphology	652	BMP4	OMIM:607932
HP:0012243	Abnormal reproductive system morphology	1748	DLX4	OMIM:616788
HP:0012243	Abnormal reproductive system morphology	5879	RAC1	ORPHA:500159
HP:0012243	Abnormal reproductive system morphology	6261	RYR1	ORPHA:98905
HP:0012243	Abnormal reproductive system morphology	6261	RYR1	OMIM:619542
HP:0012243	Abnormal reproductive system morphology	6261	RYR1	ORPHA:169189
HP:0012243	Abnormal reproductive system morphology	23389	MED13L	OMIM:616789
HP:0012243	Abnormal reproductive system morphology	23389	MED13L	ORPHA:369891
HP:0012243	Abnormal reproductive system morphology	4621	MYH3	ORPHA:2990
HP:0012243	Abnormal reproductive system morphology	4621	MYH3	OMIM:193700
HP:0012243	Abnormal reproductive system morphology	4621	MYH3	ORPHA:2053
HP:0012243	Abnormal reproductive system morphology	1146	CHRNG	ORPHA:2990
HP:0012243	Abnormal reproductive system morphology	1146	CHRNG	OMIM:265000
HP:0012243	Abnormal reproductive system morphology	25782	RAB3GAP2	ORPHA:2510
HP:0012243	Abnormal reproductive system morphology	25782	RAB3GAP2	OMIM:212720
HP:0012243	Abnormal reproductive system morphology	25782	RAB3GAP2	ORPHA:1387
HP:0012243	Abnormal reproductive system morphology	25782	RAB3GAP2	OMIM:614225
HP:0012243	Abnormal reproductive system morphology	22931	RAB18	ORPHA:2510
HP:0012243	Abnormal reproductive system morphology	4281	MID1	ORPHA:2745
HP:0012243	Abnormal reproductive system morphology	4281	MID1	OMIM:300000
HP:0012243	Abnormal reproductive system morphology	523	ATP6V1A	OMIM:617403
HP:0012243	Abnormal reproductive system morphology	529	ATP6V1E1	OMIM:617402
HP:0012243	Abnormal reproductive system morphology	6655	SOS2	OMIM:616559
HP:0012243	Abnormal reproductive system morphology	6655	SOS2	ORPHA:648
HP:0012243	Abnormal reproductive system morphology	246329	STAC3	OMIM:255995
HP:0012243	Abnormal reproductive system morphology	246329	STAC3	ORPHA:168572
HP:0012243	Abnormal reproductive system morphology	64682	ANAPC1	ORPHA:221008
HP:0012243	Abnormal reproductive system morphology	7528	YY1	ORPHA:506358
HP:0012243	Abnormal reproductive system morphology	7528	YY1	OMIM:617557
HP:0012243	Abnormal reproductive system morphology	23141	ANKLE2	OMIM:616681
HP:0012243	Abnormal reproductive system morphology	8294	H4C9	OMIM:619951
HP:0012243	Abnormal reproductive system morphology	6016	RIT1	OMIM:615355
HP:0012243	Abnormal reproductive system morphology	6016	RIT1	ORPHA:648
HP:0012243	Abnormal reproductive system morphology	4204	MECP2	ORPHA:1762
HP:0012243	Abnormal reproductive system morphology	4204	MECP2	OMIM:300260
HP:0012243	Abnormal reproductive system morphology	6938	TCF12	OMIM:619718
HP:0012243	Abnormal reproductive system morphology	3008	H1-4	OMIM:617537
HP:0012243	Abnormal reproductive system morphology	5830	PEX5	OMIM:214110
HP:0012243	Abnormal reproductive system morphology	5830	PEX5	ORPHA:912
HP:0012243	Abnormal reproductive system morphology	2067	ERCC1	ORPHA:90322
HP:0012243	Abnormal reproductive system morphology	65267	WNK3	OMIM:309610
HP:0012243	Abnormal reproductive system morphology	1723	DHODH	OMIM:263750
HP:0012243	Abnormal reproductive system morphology	51111	KMT5B	OMIM:617788
HP:0012243	Abnormal reproductive system morphology	129563	DIS3L2	ORPHA:2849
HP:0012243	Abnormal reproductive system morphology	129563	DIS3L2	ORPHA:654
HP:0012243	Abnormal reproductive system morphology	129563	DIS3L2	OMIM:267000
HP:0012243	Abnormal reproductive system morphology	10584	COLEC10	OMIM:248340
HP:0012243	Abnormal reproductive system morphology	55870	ASH1L	OMIM:617796
HP:0012243	Abnormal reproductive system morphology	9698	PUM1	OMIM:620719
HP:0012243	Abnormal reproductive system morphology	25885	POLR1A	OMIM:616462
HP:0012243	Abnormal reproductive system morphology	815	CAMK2A	OMIM:617798
HP:0012243	Abnormal reproductive system morphology	4853	NOTCH2	OMIM:102500
HP:0012243	Abnormal reproductive system morphology	1183	CLCN4	ORPHA:485350
HP:0012243	Abnormal reproductive system morphology	7020	TFAP2A	OMIM:113620
HP:0012243	Abnormal reproductive system morphology	8726	EED	OMIM:617561
HP:0012243	Abnormal reproductive system morphology	54872	PIGG	ORPHA:280
HP:0012243	Abnormal reproductive system morphology	7469	NELFA	ORPHA:280
HP:0012243	Abnormal reproductive system morphology	54968	TMEM70	OMIM:614052
HP:0012243	Abnormal reproductive system morphology	54968	TMEM70	ORPHA:1194
HP:0012243	Abnormal reproductive system morphology	1656	DDX6	OMIM:618653
HP:0012243	Abnormal reproductive system morphology	5424	POLD1	OMIM:615381
HP:0012243	Abnormal reproductive system morphology	57178	ZMIZ1	OMIM:618659
HP:0012243	Abnormal reproductive system morphology	10011	SRA1	OMIM:146110
HP:0012243	Abnormal reproductive system morphology	2796	GNRH1	OMIM:146110
HP:0012243	Abnormal reproductive system morphology	2796	GNRH1	ORPHA:432
HP:0012243	Abnormal reproductive system morphology	2796	GNRH1	OMIM:614841
HP:0012243	Abnormal reproductive system morphology	558	AXL	OMIM:146110
HP:0012243	Abnormal reproductive system morphology	2798	GNRHR	OMIM:146110
HP:0012243	Abnormal reproductive system morphology	2798	GNRHR	ORPHA:432
HP:0012243	Abnormal reproductive system morphology	2783	GNB2	OMIM:619503
HP:0012243	Abnormal reproductive system morphology	200734	SPRED2	OMIM:619745
HP:0012243	Abnormal reproductive system morphology	200734	SPRED2	ORPHA:648
HP:0012243	Abnormal reproductive system morphology	1947	EFNB1	OMIM:304110
HP:0012243	Abnormal reproductive system morphology	253738	EBF3	OMIM:617330
HP:0012243	Abnormal reproductive system morphology	1182	CLCN3	OMIM:619512
HP:0012243	Abnormal reproductive system morphology	8879	SGPL1	OMIM:617575
HP:0012243	Abnormal reproductive system morphology	5792	PTPRF	OMIM:616001
HP:0012243	Abnormal reproductive system morphology	9681	DEPDC5	OMIM:620504
HP:0012243	Abnormal reproductive system morphology	148867	SLC30A7	OMIM:620501
HP:0012243	Abnormal reproductive system morphology	286	ANK1	ORPHA:251066
HP:0012243	Abnormal reproductive system morphology	145258	GSC	OMIM:602471
HP:0012243	Abnormal reproductive system morphology	26137	ZBTB20	OMIM:259050
HP:0012243	Abnormal reproductive system morphology	2312	FLG	ORPHA:461
HP:0012243	Abnormal reproductive system morphology	7750	ZMYM2	OMIM:619522
HP:0012243	Abnormal reproductive system morphology	59336	PRDM13	OMIM:619761
HP:0012243	Abnormal reproductive system morphology	22	ABCB7	ORPHA:2802
HP:0012243	Abnormal reproductive system morphology	22	ABCB7	OMIM:301310
HP:0012243	Abnormal reproductive system morphology	54487	DGCR8	OMIM:192430
HP:0012243	Abnormal reproductive system morphology	8214	DGCR6	OMIM:192430
HP:0012243	Abnormal reproductive system morphology	8220	ESS2	OMIM:192430
HP:0012243	Abnormal reproductive system morphology	9993	DGCR2	OMIM:192430
HP:0012243	Abnormal reproductive system morphology	6925	TCF4	OMIM:610954
HP:0012243	Abnormal reproductive system morphology	6925	TCF4	ORPHA:2896
HP:0012243	Abnormal reproductive system morphology	2316	FLNA	OMIM:304120
HP:0012243	Abnormal reproductive system morphology	5286	PIK3C2A	OMIM:618440
HP:0012243	Abnormal reproductive system morphology	79087	ALG12	ORPHA:79324
HP:0012243	Abnormal reproductive system morphology	79087	ALG12	OMIM:607143
HP:0012243	Abnormal reproductive system morphology	8295	TRRAP	OMIM:618454
HP:0012243	Abnormal reproductive system morphology	27145	FILIP1	OMIM:620775
HP:0012243	Abnormal reproductive system morphology	6654	SOS1	OMIM:610733
HP:0012243	Abnormal reproductive system morphology	6654	SOS1	ORPHA:648
HP:0012243	Abnormal reproductive system morphology	5277	PIGA	OMIM:301072
HP:0012243	Abnormal reproductive system morphology	26012	NSMF	ORPHA:432
HP:0012243	Abnormal reproductive system morphology	4808	NHLH2	ORPHA:432
HP:0012243	Abnormal reproductive system morphology	84634	KISS1R	ORPHA:432
HP:0012243	Abnormal reproductive system morphology	84634	KISS1R	OMIM:614837
HP:0012243	Abnormal reproductive system morphology	6866	TAC3	ORPHA:432
HP:0012243	Abnormal reproductive system morphology	3814	KISS1	ORPHA:432
HP:0012243	Abnormal reproductive system morphology	5076	PAX2	ORPHA:97362
HP:0012243	Abnormal reproductive system morphology	10466	COG5	ORPHA:263487
HP:0012243	Abnormal reproductive system morphology	9759	HDAC4	OMIM:619797
HP:0012243	Abnormal reproductive system morphology	6477	SIAH1	OMIM:619314
HP:0012243	Abnormal reproductive system morphology	51728	POLR3K	OMIM:619310
HP:0012243	Abnormal reproductive system morphology	6885	MAP3K7	OMIM:617137
HP:0012243	Abnormal reproductive system morphology	170689	ADAMTS15	OMIM:620545
HP:0012243	Abnormal reproductive system morphology	84320	ACBD6	OMIM:620785
HP:0012243	Abnormal reproductive system morphology	26275	HIBCH	ORPHA:88639
HP:0012243	Abnormal reproductive system morphology	29998	BICRA	OMIM:619325
HP:0012243	Abnormal reproductive system morphology	1363	CPE	OMIM:619326
HP:0012243	Abnormal reproductive system morphology	157922	CAMSAP1	OMIM:620316
HP:0012243	Abnormal reproductive system morphology	2033	EP300	ORPHA:353284
HP:0012243	Abnormal reproductive system morphology	2033	EP300	OMIM:180849
HP:0012243	Abnormal reproductive system morphology	5978	REST	ORPHA:654
HP:0012243	Abnormal reproductive system morphology	10155	TRIM28	ORPHA:654
HP:0012243	Abnormal reproductive system morphology	11281	POU6F2	ORPHA:654
HP:0012243	Abnormal reproductive system morphology	2710	GK	OMIM:307030
HP:0012243	Abnormal reproductive system morphology	84892	POMGNT2	ORPHA:899
HP:0012243	Abnormal reproductive system morphology	148789	B3GALNT2	ORPHA:899
HP:0012243	Abnormal reproductive system morphology	1282	COL4A1	ORPHA:899
HP:0012243	Abnormal reproductive system morphology	729920	CRPPA	ORPHA:899
HP:0012243	Abnormal reproductive system morphology	1605	DAG1	ORPHA:899
HP:0012243	Abnormal reproductive system morphology	11041	B4GAT1	ORPHA:899
HP:0012243	Abnormal reproductive system morphology	84197	POMK	ORPHA:899
HP:0012243	Abnormal reproductive system morphology	55624	POMGNT1	ORPHA:899
HP:0012243	Abnormal reproductive system morphology	79068	FTO	OMIM:612938
HP:0012243	Abnormal reproductive system morphology	4763	NF1	OMIM:601321
HP:0012243	Abnormal reproductive system morphology	4763	NF1	ORPHA:638
HP:0012243	Abnormal reproductive system morphology	10082	GPC6	OMIM:258315
HP:0012243	Abnormal reproductive system morphology	10082	GPC6	ORPHA:93329
HP:0012243	Abnormal reproductive system morphology	400569	MED11	OMIM:620327
HP:0012243	Abnormal reproductive system morphology	3265	HRAS	ORPHA:3071
HP:0012243	Abnormal reproductive system morphology	3265	HRAS	ORPHA:2874
HP:0012243	Abnormal reproductive system morphology	25942	SIN3A	ORPHA:94065
HP:0012243	Abnormal reproductive system morphology	10524	KAT5	OMIM:619103
HP:0012243	Abnormal reproductive system morphology	372	ARCN1	OMIM:617164
HP:0012243	Abnormal reproductive system morphology	1822	ATN1	OMIM:618494
HP:0012243	Abnormal reproductive system morphology	26040	SETBP1	OMIM:616078
HP:0012243	Abnormal reproductive system morphology	2475	MTOR	ORPHA:457485
HP:0012243	Abnormal reproductive system morphology	2475	MTOR	OMIM:616638
HP:0012243	Abnormal reproductive system morphology	4990	SIX6	OMIM:206900
HP:0012243	Abnormal reproductive system morphology	91039	DPP9	OMIM:620331
HP:0012243	Abnormal reproductive system morphology	3975	LHX1	ORPHA:261265
HP:0012243	Abnormal reproductive system morphology	6928	HNF1B	ORPHA:261265
HP:0012243	Abnormal reproductive system morphology	29895	MYL11	OMIM:619110
HP:0012243	Abnormal reproductive system morphology	10847	SRCAP	OMIM:619595
HP:0012243	Abnormal reproductive system morphology	10847	SRCAP	ORPHA:2044
HP:0012243	Abnormal reproductive system morphology	10847	SRCAP	OMIM:136140
HP:0012243	Abnormal reproductive system morphology	145173	B3GLCT	OMIM:261540
HP:0012243	Abnormal reproductive system morphology	145173	B3GLCT	ORPHA:709
HP:0012243	Abnormal reproductive system morphology	6660	SOX5	ORPHA:626
HP:0012243	Abnormal reproductive system morphology	238	ALK	ORPHA:626
HP:0012243	Abnormal reproductive system morphology	8468	FKBP6	OMIM:620103
HP:0012243	Abnormal reproductive system morphology	8468	FKBP6	ORPHA:904
HP:0012243	Abnormal reproductive system morphology	1836	SLC26A2	ORPHA:628
HP:0012243	Abnormal reproductive system morphology	4534	MTM1	OMIM:310400
HP:0012243	Abnormal reproductive system morphology	4534	MTM1	ORPHA:456328
HP:0012243	Abnormal reproductive system morphology	84172	POLR1B	ORPHA:861
HP:0012243	Abnormal reproductive system morphology	9533	POLR1C	ORPHA:861
HP:0012243	Abnormal reproductive system morphology	51082	POLR1D	ORPHA:861
HP:0012243	Abnormal reproductive system morphology	90416	CCDC32	OMIM:619123
HP:0012243	Abnormal reproductive system morphology	5426	POLE	ORPHA:85173
HP:0012243	Abnormal reproductive system morphology	22995	CEP152	OMIM:613823
HP:0012243	Abnormal reproductive system morphology	57020	VPS35L	OMIM:619135
HP:0012243	Abnormal reproductive system morphology	2332	FMR1	ORPHA:261483
HP:0012243	Abnormal reproductive system morphology	1984	EIF5A	OMIM:619376
HP:0012243	Abnormal reproductive system morphology	2733	GLE1	OMIM:611890
HP:0012243	Abnormal reproductive system morphology	22800	RRAS2	ORPHA:648
HP:0012243	Abnormal reproductive system morphology	867	CBL	ORPHA:648
HP:0012243	Abnormal reproductive system morphology	867	CBL	OMIM:613563
HP:0012243	Abnormal reproductive system morphology	6237	RRAS	ORPHA:648
HP:0012243	Abnormal reproductive system morphology	22808	MRAS	ORPHA:648
HP:0012243	Abnormal reproductive system morphology	5922	RASA2	ORPHA:648
HP:0012243	Abnormal reproductive system morphology	59	ACTA2	OMIM:613834
HP:0012243	Abnormal reproductive system morphology	4693	NDP	ORPHA:649
HP:0012243	Abnormal reproductive system morphology	92345	NAF1	OMIM:620365
HP:0012243	Abnormal reproductive system morphology	23040	MYT1L	ORPHA:647799
HP:0012243	Abnormal reproductive system morphology	221692	PHACTR1	OMIM:618298
HP:0012243	Abnormal reproductive system morphology	4713	NDUFB7	OMIM:620135
HP:0012243	Abnormal reproductive system morphology	5605	MAP2K2	ORPHA:638
HP:0012243	Abnormal reproductive system morphology	5605	MAP2K2	ORPHA:1340
HP:0012243	Abnormal reproductive system morphology	9325	TRIP4	ORPHA:486815
HP:0012243	Abnormal reproductive system morphology	90952	ESAM	OMIM:620371
HP:0012243	Abnormal reproductive system morphology	83483	PLVAP	OMIM:618183
HP:0012243	Abnormal reproductive system morphology	58499	ZNF462	ORPHA:502430
HP:0012243	Abnormal reproductive system morphology	10046	MAMLD1	ORPHA:456328
HP:0012243	Abnormal reproductive system morphology	10046	MAMLD1	ORPHA:95706
HP:0012243	Abnormal reproductive system morphology	83700	JAM3	OMIM:613730
HP:0012243	Abnormal reproductive system morphology	23556	PIGN	ORPHA:2059
HP:0012243	Abnormal reproductive system morphology	2904	GRIN2B	OMIM:613970
HP:0012243	Abnormal reproductive system morphology	8854	ALDH1A2	OMIM:620025
HP:0012243	Abnormal reproductive system morphology	55777	MBD5	ORPHA:228402
HP:0012243	Abnormal reproductive system morphology	3636	INPPL1	ORPHA:3144
HP:0012243	Abnormal reproductive system morphology	23169	SLC35D1	ORPHA:3144
HP:0012243	Abnormal reproductive system morphology	8496	PPFIBP1	OMIM:620024
HP:0012243	Abnormal reproductive system morphology	4983	OPHN1	OMIM:300486
HP:0012243	Abnormal reproductive system morphology	3703	STT3A	ORPHA:370921
HP:0012243	Abnormal reproductive system morphology	26053	AUTS2	ORPHA:352490
HP:0012243	Abnormal reproductive system morphology	26005	C2CD3	OMIM:615948
HP:0012243	Abnormal reproductive system morphology	5826	ABCD4	OMIM:614857
HP:0012243	Abnormal reproductive system morphology	26227	PHGDH	OMIM:256520
HP:0012243	Abnormal reproductive system morphology	4953	ODC1	OMIM:619075
HP:0012243	Abnormal reproductive system morphology	5828	PEX2	OMIM:614866
HP:0012243	Abnormal reproductive system morphology	5828	PEX2	ORPHA:912
HP:0012243	Abnormal reproductive system morphology	6804	STX1A	ORPHA:904
HP:0012243	Abnormal reproductive system morphology	7461	CLIP2	ORPHA:904
HP:0012243	Abnormal reproductive system morphology	84277	DNAJC30	ORPHA:904
HP:0012243	Abnormal reproductive system morphology	5982	RFC2	ORPHA:904
HP:0012243	Abnormal reproductive system morphology	2969	GTF2I	ORPHA:904
HP:0012243	Abnormal reproductive system morphology	3984	LIMK1	ORPHA:904
HP:0012243	Abnormal reproductive system morphology	9569	GTF2IRD1	ORPHA:904
HP:0012243	Abnormal reproductive system morphology	155382	VPS37D	ORPHA:904
HP:0012243	Abnormal reproductive system morphology	155368	METTL27	ORPHA:904
HP:0012243	Abnormal reproductive system morphology	114049	BUD23	ORPHA:904
HP:0012243	Abnormal reproductive system morphology	7458	EIF4H	ORPHA:904
HP:0012243	Abnormal reproductive system morphology	84163	GTF2IRD2	ORPHA:904
HP:0012243	Abnormal reproductive system morphology	26608	TBL2	ORPHA:904
HP:0012243	Abnormal reproductive system morphology	653361	NCF1	ORPHA:904
HP:0012243	Abnormal reproductive system morphology	135886	TMEM270	ORPHA:904
HP:0012243	Abnormal reproductive system morphology	9031	BAZ1B	ORPHA:904
HP:0012243	Abnormal reproductive system morphology	2006	ELN	ORPHA:904
HP:0012243	Abnormal reproductive system morphology	157570	ESCO2	ORPHA:3103
HP:0012243	Abnormal reproductive system morphology	157570	ESCO2	OMIM:268300
HP:0012243	Abnormal reproductive system morphology	10236	HNRNPR	OMIM:620073
HP:0012243	Abnormal reproductive system morphology	5700	PSMC1	OMIM:620071
HP:0012243	Abnormal reproductive system morphology	78989	COLEC11	OMIM:265050
HP:0012243	Abnormal reproductive system morphology	5594	MAPK1	OMIM:619087
HP:0012243	Abnormal reproductive system morphology	1654	DDX3X	ORPHA:3338
HP:0012243	Abnormal reproductive system morphology	25802	LMOD1	ORPHA:2241
HP:0012243	Abnormal reproductive system morphology	4629	MYH11	ORPHA:2241
HP:0012243	Abnormal reproductive system morphology	72	ACTG2	ORPHA:2241
HP:0012243	Abnormal reproductive system morphology	4638	MYLK	ORPHA:2241
HP:0012243	Abnormal reproductive system morphology	5832	ALDH18A1	OMIM:219150
HP:0012243	Abnormal reproductive system morphology	84919	PPP1R15B	OMIM:616817
HP:0012243	Abnormal reproductive system morphology	51244	CCDC174	OMIM:616816
HP:0012243	Abnormal reproductive system morphology	3187	HNRNPH1	OMIM:620083
HP:0012243	Abnormal reproductive system morphology	254065	BRWD3	OMIM:300659
HP:0012243	Abnormal reproductive system morphology	50945	TBX22	ORPHA:921
HP:0012243	Abnormal reproductive system morphology	5631	PRPS1	OMIM:300661
HP:0012243	Abnormal reproductive system morphology	2200	FBN1	ORPHA:2462
HP:0012243	Abnormal reproductive system morphology	55670	PEX26	ORPHA:912
HP:0012243	Abnormal reproductive system morphology	8504	PEX3	ORPHA:912
HP:0012243	Abnormal reproductive system morphology	8799	PEX11B	ORPHA:912
HP:0012243	Abnormal reproductive system morphology	9409	PEX16	ORPHA:912
HP:0012243	Abnormal reproductive system morphology	5193	PEX12	ORPHA:912
HP:0012243	Abnormal reproductive system morphology	5194	PEX13	ORPHA:912
HP:0012243	Abnormal reproductive system morphology	5195	PEX14	ORPHA:912
HP:0012243	Abnormal reproductive system morphology	5192	PEX10	ORPHA:912
HP:0012243	Abnormal reproductive system morphology	7507	XPA	ORPHA:910
HP:0012243	Abnormal reproductive system morphology	7508	XPC	ORPHA:910
HP:0012243	Abnormal reproductive system morphology	1643	DDB2	ORPHA:910
HP:0012243	Abnormal reproductive system morphology	2073	ERCC5	ORPHA:910
HP:0012243	Abnormal reproductive system morphology	100151683	RNU4ATAC	OMIM:210710
HP:0012243	Abnormal reproductive system morphology	100151683	RNU4ATAC	ORPHA:2636
HP:0012243	Abnormal reproductive system morphology	274	BIN1	ORPHA:169189
HP:0012243	Abnormal reproductive system morphology	64419	MTMR14	ORPHA:169189
HP:0012243	Abnormal reproductive system morphology	4618	MYF6	ORPHA:169189
HP:0012243	Abnormal reproductive system morphology	1785	DNM2	ORPHA:169189
HP:0012243	Abnormal reproductive system morphology	2702	GJA5	ORPHA:3303
HP:0012243	Abnormal reproductive system morphology	1482	NKX2-5	ORPHA:3303
HP:0012243	Abnormal reproductive system morphology	137814	NKX2-6	ORPHA:3303
HP:0012243	Abnormal reproductive system morphology	3791	KDR	ORPHA:3303
HP:0012243	Abnormal reproductive system morphology	2627	GATA6	ORPHA:3303
HP:0012243	Abnormal reproductive system morphology	2657	GDF1	ORPHA:3303
HP:0012243	Abnormal reproductive system morphology	182	JAG1	ORPHA:3303
HP:0012243	Abnormal reproductive system morphology	140628	GATA5	ORPHA:3303
HP:0012243	Abnormal reproductive system morphology	2324	FLT4	ORPHA:3303
HP:0012243	Abnormal reproductive system morphology	10370	CITED2	ORPHA:3303
HP:0012243	Abnormal reproductive system morphology	2623	GATA1	ORPHA:67044
HP:0012243	Abnormal reproductive system morphology	113179	ADAT3	ORPHA:363528
HP:0012243	Abnormal reproductive system morphology	55784	MCTP2	ORPHA:1596
HP:0012243	Abnormal reproductive system morphology	5831	PYCR1	OMIM:614438
HP:0012243	Abnormal reproductive system morphology	4297	KMT2A	OMIM:605130
HP:0012243	Abnormal reproductive system morphology	2592	GALT	ORPHA:79239
HP:0012243	Abnormal reproductive system morphology	10265	IRX5	OMIM:611174
HP:0012243	Abnormal reproductive system morphology	7874	USP7	OMIM:616863
HP:0012243	Abnormal reproductive system morphology	7874	USP7	ORPHA:500055
HP:0012243	Abnormal reproductive system morphology	64093	SMOC1	ORPHA:1106
HP:0012243	Abnormal reproductive system morphology	79633	FAT4	OMIM:615546
HP:0012243	Abnormal reproductive system morphology	7074	TIAM1	OMIM:619908
HP:0012243	Abnormal reproductive system morphology	29957	SLC25A24	OMIM:612289
HP:0012243	Abnormal reproductive system morphology	8905	AP1S2	ORPHA:1568
HP:0012243	Abnormal reproductive system morphology	8241	RBM10	ORPHA:2886
HP:0012243	Abnormal reproductive system morphology	51780	KDM3B	OMIM:618846
HP:0012243	Abnormal reproductive system morphology	5455	POU3F3	OMIM:618604
HP:0012243	Abnormal reproductive system morphology	5718	PSMD12	OMIM:617516
HP:0012243	Abnormal reproductive system morphology	7543	ZFX	OMIM:301118
HP:0012243	Abnormal reproductive system morphology	3251	HPRT1	OMIM:300322
HP:0012243	Abnormal reproductive system morphology	7466	WFS1	OMIM:222300
HP:0012243	Abnormal reproductive system morphology	5428	POLG	OMIM:157640
HP:0012243	Abnormal reproductive system morphology	654	BMP6	ORPHA:465508
HP:0012243	Abnormal reproductive system morphology	3077	HFE	ORPHA:465508
HP:0012243	Abnormal reproductive system morphology	3077	HFE	OMIM:235200
HP:0012243	Abnormal reproductive system morphology	1760	DMPK	OMIM:160900
HP:0012243	Abnormal reproductive system morphology	56159	TEX11	OMIM:309120
HP:0012243	Abnormal reproductive system morphology	650	BMP2	OMIM:235200
HP:0012243	Abnormal reproductive system morphology	7374	UNG	OMIM:608106
HP:0012243	Abnormal reproductive system morphology	5696	PSMB8	OMIM:256040
HP:0012243	Abnormal reproductive system morphology	4067	LYN	OMIM:620376
HP:0012243	Abnormal reproductive system morphology	3514	IGKC	ORPHA:183675
HP:0012243	Abnormal reproductive system morphology	3501	IGHG2	ORPHA:183675
HP:0012243	Abnormal reproductive system morphology	83844	USP26	OMIM:301101
HP:0012243	Abnormal reproductive system morphology	6913	TBX15	OMIM:260660
HP:0012243	Abnormal reproductive system morphology	6309	SC5D	OMIM:607330
HP:0012243	Abnormal reproductive system morphology	54345	SOX18	OMIM:137940
HP:0012243	Abnormal reproductive system morphology	54345	SOX18	ORPHA:69735
HP:0012243	Abnormal reproductive system morphology	54345	SOX18	OMIM:607823
HP:0012243	Abnormal reproductive system morphology	1802	DPH2	OMIM:620062
HP:0012243	Abnormal reproductive system morphology	54914	FOCAD	OMIM:619991
HP:0012243	Abnormal reproductive system morphology	9780	PIEZO1	OMIM:616843
HP:0012243	Abnormal reproductive system morphology	9780	PIEZO1	ORPHA:79452
HP:0012243	Abnormal reproductive system morphology	285	ANGPT2	OMIM:619369
HP:0012243	Abnormal reproductive system morphology	285	ANGPT2	ORPHA:79452
HP:0012243	Abnormal reproductive system morphology	9508	ADAMTS3	OMIM:618154
HP:0012243	Abnormal reproductive system morphology	9739	SETD1A	OMIM:618832
HP:0012243	Abnormal reproductive system morphology	57165	GJC2	ORPHA:79452
HP:0012243	Abnormal reproductive system morphology	2122	MECOM	OMIM:616738
HP:0012243	Abnormal reproductive system morphology	80267	EDEM3	OMIM:619493
HP:0012243	Abnormal reproductive system morphology	9487	PIGL	OMIM:280000
HP:0012243	Abnormal reproductive system morphology	55901	THSD1	OMIM:620244
HP:0012243	Abnormal reproductive system morphology	1468	SLC25A10	OMIM:618972
HP:0012243	Abnormal reproductive system morphology	29969	MDFIC	OMIM:620014
HP:0012243	Abnormal reproductive system morphology	7424	VEGFC	OMIM:615907
HP:0012243	Abnormal reproductive system morphology	472	ATM	ORPHA:100
HP:0012243	Abnormal reproductive system morphology	2778	GNAS	ORPHA:562
HP:0012243	Abnormal reproductive system morphology	6595	SMARCA2	ORPHA:3051
HP:0012243	Abnormal reproductive system morphology	2697	GJA1	ORPHA:317
HP:0012243	Abnormal reproductive system morphology	2707	GJB3	ORPHA:317
HP:0012243	Abnormal reproductive system morphology	2531	KDSR	ORPHA:317
HP:0012243	Abnormal reproductive system morphology	127534	GJB4	ORPHA:317
HP:0012243	Abnormal reproductive system morphology	79813	EHMT1	ORPHA:96147
HP:0012243	Abnormal reproductive system morphology	4000	LMNA	ORPHA:79474
HP:0012243	Abnormal reproductive system morphology	672	BRCA1	ORPHA:84
HP:0012243	Abnormal reproductive system morphology	10459	MAD2L2	ORPHA:84
HP:0012243	Abnormal reproductive system morphology	7516	XRCC2	ORPHA:84
HP:0012243	Abnormal reproductive system morphology	29089	UBE2T	ORPHA:84
HP:0012243	Abnormal reproductive system morphology	675	BRCA2	ORPHA:84
HP:0012243	Abnormal reproductive system morphology	55120	FANCL	ORPHA:84
HP:0012243	Abnormal reproductive system morphology	2177	FANCD2	ORPHA:84
HP:0012243	Abnormal reproductive system morphology	2175	FANCA	ORPHA:84
HP:0012243	Abnormal reproductive system morphology	2187	FANCB	ORPHA:84
HP:0012243	Abnormal reproductive system morphology	2176	FANCC	ORPHA:84
HP:0012243	Abnormal reproductive system morphology	2178	FANCE	ORPHA:84
HP:0012243	Abnormal reproductive system morphology	2188	FANCF	ORPHA:84
HP:0012243	Abnormal reproductive system morphology	2189	FANCG	ORPHA:84
HP:0012243	Abnormal reproductive system morphology	5888	RAD51	ORPHA:84
HP:0012243	Abnormal reproductive system morphology	55159	RFWD3	ORPHA:84
HP:0012243	Abnormal reproductive system morphology	83990	BRIP1	ORPHA:84
HP:0012243	Abnormal reproductive system morphology	57697	FANCM	ORPHA:84
HP:0012243	Abnormal reproductive system morphology	79728	PALB2	ORPHA:84
HP:0012243	Abnormal reproductive system morphology	84464	SLX4	ORPHA:84
HP:0012243	Abnormal reproductive system morphology	2072	ERCC4	ORPHA:84
HP:0012243	Abnormal reproductive system morphology	55215	FANCI	ORPHA:84
HP:0012243	Abnormal reproductive system morphology	7486	WRN	ORPHA:902
HP:0012243	Abnormal reproductive system morphology	10483	SEC23B	ORPHA:201
HP:0012243	Abnormal reproductive system morphology	5728	PTEN	ORPHA:201
HP:0012243	Abnormal reproductive system morphology	6390	SDHB	ORPHA:201
HP:0012243	Abnormal reproductive system morphology	6392	SDHD	ORPHA:201
HP:0012243	Abnormal reproductive system morphology	6391	SDHC	ORPHA:201
HP:0012243	Abnormal reproductive system morphology	207	AKT1	ORPHA:201
HP:0012243	Abnormal reproductive system morphology	205717	USF3	ORPHA:201
HP:0012243	Abnormal reproductive system morphology	5290	PIK3CA	ORPHA:201
HP:0012243	Abnormal reproductive system morphology	100144748	KLLN	ORPHA:201
HP:0012243	Abnormal reproductive system morphology	1857	DVL3	ORPHA:3107
HP:0012243	Abnormal reproductive system morphology	7474	WNT5A	ORPHA:3107
HP:0012243	Abnormal reproductive system morphology	1855	DVL1	ORPHA:3107
HP:0012243	Abnormal reproductive system morphology	3845	KRAS	ORPHA:3339
HP:0012243	Abnormal reproductive system morphology	63895	PIEZO2	ORPHA:2461
HP:0012243	Abnormal reproductive system morphology	55733	HHAT	ORPHA:1422
HP:0012243	Abnormal reproductive system morphology	55733	HHAT	OMIM:600092
HP:0012243	Abnormal reproductive system morphology	268	AMH	ORPHA:2856
HP:0012243	Abnormal reproductive system morphology	269	AMHR2	ORPHA:2856
HP:0012243	Abnormal reproductive system morphology	1761	DMRT1	ORPHA:242
HP:0012243	Abnormal reproductive system morphology	5332	PLCB4	OMIM:620458
HP:0012243	Abnormal reproductive system morphology	3973	LHCGR	ORPHA:3000
HP:0012243	Abnormal reproductive system morphology	1974	EIF4A2	OMIM:620455
HP:0012243	Abnormal reproductive system morphology	1009	CDH11	ORPHA:1299
HP:0012243	Abnormal reproductive system morphology	7473	WNT3	OMIM:273395
HP:0012243	Abnormal reproductive system morphology	54101	RIPK4	OMIM:263650
HP:0012243	Abnormal reproductive system morphology	5324	PLAG1	ORPHA:397590
HP:0012243	Abnormal reproductive system morphology	8091	HMGA2	ORPHA:397590
HP:0012243	Abnormal reproductive system morphology	203068	TUBB	ORPHA:2505
HP:0012243	Abnormal reproductive system morphology	10982	MAPRE2	ORPHA:2505
HP:0012243	Abnormal reproductive system morphology	60	ACTB	ORPHA:64755
HP:0012243	Abnormal reproductive system morphology	10056	FARSB	OMIM:613658
HP:0012243	Abnormal reproductive system morphology	84162	BLTP1	OMIM:617822
HP:0012243	Abnormal reproductive system morphology	5818	NECTIN1	ORPHA:3253
HP:0012243	Abnormal reproductive system morphology	64864	RFX7	OMIM:620330
HP:0012243	Abnormal reproductive system morphology	23363	OBSL1	ORPHA:2616
HP:0012243	Abnormal reproductive system morphology	83987	CCDC8	ORPHA:2616
HP:0012243	Abnormal reproductive system morphology	5932	RBBP8	OMIM:606744
HP:0012243	Abnormal reproductive system morphology	116931	MED12L	OMIM:618872
HP:0012243	Abnormal reproductive system morphology	8239	USP9X	OMIM:300919
HP:0012243	Abnormal reproductive system morphology	4149	MAX	OMIM:620712
HP:0012243	Abnormal reproductive system morphology	8642	DCHS1	OMIM:601390
HP:0012243	Abnormal reproductive system morphology	8642	DCHS1	ORPHA:314679
HP:0012243	Abnormal reproductive system morphology	8363	H4C11	OMIM:619759
HP:0012243	Abnormal reproductive system morphology	9725	TMEM63A	OMIM:618688
HP:0012243	Abnormal reproductive system morphology	6138	RPL15	ORPHA:124
HP:0012243	Abnormal reproductive system morphology	6165	RPL35A	ORPHA:124
HP:0012243	Abnormal reproductive system morphology	6165	RPL35A	OMIM:612528
HP:0012243	Abnormal reproductive system morphology	6132	RPL8	ORPHA:124
HP:0012243	Abnormal reproductive system morphology	6223	RPS19	ORPHA:124
HP:0012243	Abnormal reproductive system morphology	6232	RPS27	ORPHA:124
HP:0012243	Abnormal reproductive system morphology	55027	HEATR3	ORPHA:124
HP:0012243	Abnormal reproductive system morphology	6160	RPL31	ORPHA:124
HP:0012243	Abnormal reproductive system morphology	6201	RPS7	ORPHA:124
HP:0012243	Abnormal reproductive system morphology	6155	RPL27	ORPHA:124
HP:0012243	Abnormal reproductive system morphology	6234	RPS28	ORPHA:124
HP:0012243	Abnormal reproductive system morphology	6135	RPL11	ORPHA:124
HP:0012243	Abnormal reproductive system morphology	6229	RPS24	ORPHA:124
HP:0012243	Abnormal reproductive system morphology	6125	RPL5	ORPHA:124
HP:0012243	Abnormal reproductive system morphology	6204	RPS10	ORPHA:124
HP:0012243	Abnormal reproductive system morphology	6133	RPL9	ORPHA:124
HP:0012243	Abnormal reproductive system morphology	6231	RPS26	ORPHA:124
HP:0012243	Abnormal reproductive system morphology	11224	RPL35	ORPHA:124
HP:0012243	Abnormal reproductive system morphology	6218	RPS17	ORPHA:124
HP:0012243	Abnormal reproductive system morphology	6154	RPL26	ORPHA:124
HP:0012243	Abnormal reproductive system morphology	6210	RPS15A	ORPHA:124
HP:0012243	Abnormal reproductive system morphology	6141	RPL18	ORPHA:124
HP:0012243	Abnormal reproductive system morphology	6235	RPS29	ORPHA:124
HP:0012243	Abnormal reproductive system morphology	51816	ADA2	ORPHA:124
HP:0012243	Abnormal reproductive system morphology	1523	CUX1	OMIM:618330
HP:0012243	Abnormal reproductive system morphology	22827	PUF60	ORPHA:508498
HP:0012243	Abnormal reproductive system morphology	5308	PITX2	ORPHA:782
HP:0012243	Abnormal reproductive system morphology	5308	PITX2	OMIM:180500
HP:0012243	Abnormal reproductive system morphology	2296	FOXC1	ORPHA:782
HP:0012243	Abnormal reproductive system morphology	8802	SUCLG1	ORPHA:17
HP:0012243	Abnormal reproductive system morphology	4700	NDUFA6	OMIM:618253
HP:0012243	Abnormal reproductive system morphology	6748	SSR4	OMIM:300934
HP:0012243	Abnormal reproductive system morphology	55181	SMG8	OMIM:619268
HP:0012243	Abnormal reproductive system morphology	4702	NDUFA8	OMIM:619272
HP:0012243	Abnormal reproductive system morphology	1136	CHRNA3	OMIM:191800
HP:0012243	Abnormal reproductive system morphology	7080	NKX2-1	ORPHA:209905
HP:0012243	Abnormal reproductive system morphology	222663	SCUBE3	OMIM:619184
HP:0012243	Abnormal reproductive system morphology	57459	GATAD2B	ORPHA:363686
HP:0012243	Abnormal reproductive system morphology	9652	SKIC3	OMIM:222470
HP:0012243	Abnormal reproductive system morphology	10159	ATP6AP2	OMIM:301045
HP:0012243	Abnormal reproductive system morphology	10586	MAB21L2	OMIM:615877
HP:0012243	Abnormal reproductive system morphology	8831	SYNGAP1	ORPHA:544254
HP:0012243	Abnormal reproductive system morphology	5723	PSPH	ORPHA:79350
HP:0012243	Abnormal reproductive system morphology	1589	CYP21A2	OMIM:201910
HP:0012243	Abnormal reproductive system morphology	4796	TONSL	ORPHA:93357
HP:0012243	Abnormal reproductive system morphology	4724	NDUFS4	OMIM:252010
HP:0012243	Abnormal reproductive system morphology	5699	PSMB10	OMIM:620807
HP:0012243	Abnormal reproductive system morphology	6711	SPTBN1	OMIM:619475
HP:0012243	Abnormal reproductive system morphology	26128	KIFBP	ORPHA:66629
HP:0012243	Abnormal reproductive system morphology	51733	UPB1	OMIM:613161
HP:0012243	Abnormal reproductive system morphology	51651	PTRH2	OMIM:616263
HP:0012243	Abnormal reproductive system morphology	51651	PTRH2	ORPHA:456312
HP:0012243	Abnormal reproductive system morphology	340533	NEXMIF	ORPHA:85277
HP:0012243	Abnormal reproductive system morphology	54499	TMCO1	OMIM:213980
HP:0012243	Abnormal reproductive system morphology	23524	SRRM2	OMIM:620439
HP:0012243	Abnormal reproductive system morphology	124512	METTL23	OMIM:615942
HP:0012243	Abnormal reproductive system morphology	3911	LAMA5	OMIM:620076
HP:0012243	Abnormal reproductive system morphology	10269	ZMPSTE24	ORPHA:740
HP:0012243	Abnormal reproductive system morphology	134353	LSM11	OMIM:619486
HP:0012243	Abnormal reproductive system morphology	25836	NIPBL	OMIM:122470
HP:0012243	Abnormal reproductive system morphology	8087	FXR1	OMIM:618823
HP:0012243	Abnormal reproductive system morphology	10274	STAG1	ORPHA:502434
HP:0012243	Abnormal reproductive system morphology	29954	POMT2	OMIM:236670
HP:0012243	Abnormal reproductive system morphology	79147	FKRP	OMIM:236670
HP:0012243	Abnormal reproductive system morphology	2218	FKTN	OMIM:236670
HP:0012243	Abnormal reproductive system morphology	10585	POMT1	OMIM:236670
HP:0012243	Abnormal reproductive system morphology	9215	LARGE1	OMIM:236670
HP:0012243	Abnormal reproductive system morphology	27316	RBMX	OMIM:300238
HP:0012243	Abnormal reproductive system morphology	27316	RBMX	ORPHA:85286
HP:0012243	Abnormal reproductive system morphology	8367	H4C5	OMIM:619950
HP:0012243	Abnormal reproductive system morphology	57680	CHD8	OMIM:615032
HP:0012243	Abnormal reproductive system morphology	11141	IL1RAPL1	OMIM:300143
HP:0012243	Abnormal reproductive system morphology	1193	CLIC2	ORPHA:324410
HP:0012243	Abnormal reproductive system morphology	175	AGA	OMIM:208400
HP:0012243	Abnormal reproductive system morphology	175	AGA	ORPHA:93
HP:0012243	Abnormal reproductive system morphology	51114	ZDHHC9	ORPHA:776
HP:0012243	Abnormal reproductive system morphology	65109	UPF3B	ORPHA:776
HP:0012243	Abnormal reproductive system morphology	7252	TSHB	ORPHA:90674
HP:0012243	Abnormal reproductive system morphology	58	ACTA1	ORPHA:171430
HP:0012243	Abnormal reproductive system morphology	4703	NEB	ORPHA:171430
HP:0012243	Abnormal reproductive system morphology	131377	KLHL40	ORPHA:171430
HP:0012243	Abnormal reproductive system morphology	10324	KLHL41	ORPHA:171430
HP:0012243	Abnormal reproductive system morphology	56203	LMOD3	ORPHA:171430
HP:0012243	Abnormal reproductive system morphology	56623	INPP5E	ORPHA:75858
HP:0012243	Abnormal reproductive system morphology	56623	INPP5E	OMIM:610156
HP:0012243	Abnormal reproductive system morphology	1889	ECE1	OMIM:613870
HP:0012243	Abnormal reproductive system morphology	2688	GH1	OMIM:612781
HP:0012243	Abnormal reproductive system morphology	283987	HID1	OMIM:619983
HP:0012243	Abnormal reproductive system morphology	132158	GLYCTK	OMIM:220120
HP:0012243	Abnormal reproductive system morphology	79228	THOC6	ORPHA:363444
HP:0012243	Abnormal reproductive system morphology	5591	PRKDC	OMIM:615966
HP:0012243	Abnormal reproductive system morphology	51085	MLXIPL	OMIM:194050
HP:0012243	Abnormal reproductive system morphology	10661	KLF1	OMIM:613673
HP:0012243	Abnormal reproductive system morphology	10535	RNASEH2A	ORPHA:51
HP:0012243	Abnormal reproductive system morphology	84153	RNASEH2C	ORPHA:51
HP:0012243	Abnormal reproductive system morphology	25939	SAMHD1	ORPHA:51
HP:0012243	Abnormal reproductive system morphology	79621	RNASEH2B	ORPHA:51
HP:0012243	Abnormal reproductive system morphology	103	ADAR	ORPHA:51
HP:0012243	Abnormal reproductive system morphology	11277	TREX1	ORPHA:51
HP:0012243	Abnormal reproductive system morphology	100147744	RNU7-1	ORPHA:51
HP:0012243	Abnormal reproductive system morphology	100147744	RNU7-1	OMIM:619487
HP:0012243	Abnormal reproductive system morphology	64135	IFIH1	ORPHA:51
HP:0012243	Abnormal reproductive system morphology	6792	CDKL5	ORPHA:1934
HP:0012243	Abnormal reproductive system morphology	3736	KCNA1	ORPHA:1934
HP:0012243	Abnormal reproductive system morphology	9091	PIGQ	ORPHA:1934
HP:0012243	Abnormal reproductive system morphology	140679	SLC32A1	ORPHA:1934
HP:0012243	Abnormal reproductive system morphology	2775	GNAO1	ORPHA:1934
HP:0012243	Abnormal reproductive system morphology	81603	TRIM8	ORPHA:1934
HP:0012243	Abnormal reproductive system morphology	2902	GRIN1	ORPHA:1934
HP:0012243	Abnormal reproductive system morphology	79751	SLC25A22	ORPHA:1934
HP:0012243	Abnormal reproductive system morphology	150094	SIK1	ORPHA:1934
HP:0012243	Abnormal reproductive system morphology	8573	CASK	ORPHA:1934
HP:0012243	Abnormal reproductive system morphology	2917	GRM7	ORPHA:1934
HP:0012243	Abnormal reproductive system morphology	11284	PNKP	ORPHA:1934
HP:0012243	Abnormal reproductive system morphology	6326	SCN2A	ORPHA:1934
HP:0012243	Abnormal reproductive system morphology	51227	PIGP	ORPHA:1934
HP:0012243	Abnormal reproductive system morphology	6324	SCN1B	ORPHA:1934
HP:0012243	Abnormal reproductive system morphology	4761	NEUROD2	ORPHA:1934
HP:0012243	Abnormal reproductive system morphology	8925	HERC1	ORPHA:457359
HP:0012243	Abnormal reproductive system morphology	1641	DCX	OMIM:300067
HP:0012243	Abnormal reproductive system morphology	6608	SMO	OMIM:241800
HP:0012243	Abnormal reproductive system morphology	51317	PHF21A	ORPHA:52022
HP:0012243	Abnormal reproductive system morphology	202018	TAPT1	OMIM:616897
HP:0012243	Abnormal reproductive system morphology	80210	ARMC9	OMIM:617622
HP:0012243	Abnormal reproductive system morphology	23247	KATNIP	OMIM:616784
HP:0012243	Abnormal reproductive system morphology	9786	KIAA0586	OMIM:616546
HP:0012243	Abnormal reproductive system morphology	3981	LIG4	ORPHA:235
HP:0012243	Abnormal reproductive system morphology	54888	NSUN2	ORPHA:235
HP:0012243	Abnormal reproductive system morphology	5573	PRKAR1A	ORPHA:950
HP:0012243	Abnormal reproductive system morphology	5144	PDE4D	ORPHA:950
HP:0012243	Abnormal reproductive system morphology	84733	CBX2	OMIM:613080
HP:0012243	Abnormal reproductive system morphology	7852	CXCR4	OMIM:193670
HP:0012243	Abnormal reproductive system morphology	5116	PCNT	ORPHA:2637
HP:0012243	Abnormal reproductive system morphology	5590	PRKCZ	ORPHA:1606
HP:0012243	Abnormal reproductive system morphology	2563	GABRD	ORPHA:1606
HP:0012243	Abnormal reproductive system morphology	23013	SPEN	ORPHA:1606
HP:0012243	Abnormal reproductive system morphology	8510	MMP23B	ORPHA:1606
HP:0012243	Abnormal reproductive system morphology	7798	LUZP1	ORPHA:1606
HP:0012243	Abnormal reproductive system morphology	6497	SKI	ORPHA:1606
HP:0012243	Abnormal reproductive system morphology	10630	PDPN	ORPHA:1606
HP:0012243	Abnormal reproductive system morphology	3339	HSPG2	ORPHA:1606
HP:0012243	Abnormal reproductive system morphology	10277	UBE4B	ORPHA:1606
HP:0012243	Abnormal reproductive system morphology	8514	KCNAB2	ORPHA:1606
HP:0012243	Abnormal reproductive system morphology	473	RERE	ORPHA:1606
HP:0012243	Abnormal reproductive system morphology	63976	PRDM16	ORPHA:1606
HP:0012243	Abnormal reproductive system morphology	54897	CASZ1	ORPHA:1606
HP:0012243	Abnormal reproductive system morphology	50846	DHH	ORPHA:168563
HP:0012243	Abnormal reproductive system morphology	117581	TWIST2	ORPHA:920
HP:0012243	Abnormal reproductive system morphology	6888	TALDO1	ORPHA:101028
HP:0012243	Abnormal reproductive system morphology	8626	TP63	ORPHA:93930
HP:0012243	Abnormal reproductive system morphology	3670	ISL1	ORPHA:93930
HP:0012243	Abnormal reproductive system morphology	2100	ESR2	OMIM:618187
HP:0012243	Abnormal reproductive system morphology	2571	GAD1	OMIM:619124
HP:0012243	Abnormal reproductive system morphology	89910	UBE3B	OMIM:244450
HP:0012243	Abnormal reproductive system morphology	9427	ECEL1	OMIM:615065
HP:0012243	Abnormal reproductive system morphology	25886	POC1A	OMIM:614813
HP:0012243	Abnormal reproductive system morphology	7148	TNXB	OMIM:606408
HP:0012243	Abnormal reproductive system morphology	1588	CYP19A1	ORPHA:91
HP:0012243	Abnormal reproductive system morphology	2737	GLI3	ORPHA:672
HP:0012243	Abnormal reproductive system morphology	2737	GLI3	ORPHA:93322
HP:0012243	Abnormal reproductive system morphology	6658	SOX3	ORPHA:393
HP:0012243	Abnormal reproductive system morphology	341640	FREM2	ORPHA:2052
HP:0012243	Abnormal reproductive system morphology	341640	FREM2	OMIM:617666
HP:0012243	Abnormal reproductive system morphology	80144	FRAS1	ORPHA:2052
HP:0012243	Abnormal reproductive system morphology	23426	GRIP1	ORPHA:2052
HP:0012243	Abnormal reproductive system morphology	28981	IFT81	OMIM:617895
HP:0012243	Abnormal reproductive system morphology	4750	NEK1	OMIM:263520
HP:0012243	Abnormal reproductive system morphology	7026	NR2F2	OMIM:618901
HP:0012243	Abnormal reproductive system morphology	2908	NR3C1	ORPHA:786
HP:0012243	Abnormal reproductive system morphology	81839	VANGL1	ORPHA:3027
HP:0012243	Abnormal reproductive system morphology	80199	FUZ	ORPHA:3027
HP:0012243	Abnormal reproductive system morphology	55112	DYNC2I1	ORPHA:93271
HP:0012243	Abnormal reproductive system morphology	55112	DYNC2I1	OMIM:615503
HP:0012243	Abnormal reproductive system morphology	57560	IFT80	ORPHA:93271
HP:0012243	Abnormal reproductive system morphology	57539	WDR35	ORPHA:93271
HP:0012243	Abnormal reproductive system morphology	79659	DYNC2H1	ORPHA:93271
HP:0012243	Abnormal reproductive system morphology	79659	DYNC2H1	OMIM:613091
HP:0012243	Abnormal reproductive system morphology	89891	DYNC2I2	ORPHA:93271
HP:0012243	Abnormal reproductive system morphology	1109	AKR1C4	OMIM:614279
HP:0012243	Abnormal reproductive system morphology	1646	AKR1C2	OMIM:614279
HP:0012243	Abnormal reproductive system morphology	367	AR	ORPHA:90797
HP:0012243	Abnormal reproductive system morphology	22858	CILK1	OMIM:612651
HP:0012243	Abnormal reproductive system morphology	1717	DHCR7	ORPHA:818
HP:0012243	Abnormal reproductive system morphology	1717	DHCR7	OMIM:270400
HP:0012243	Abnormal reproductive system morphology	1584	CYP11B1	ORPHA:90795
HP:0012243	Abnormal reproductive system morphology	170302	ARX	ORPHA:452
HP:0012243	Abnormal reproductive system morphology	170302	ARX	OMIM:300215
HP:0012243	Abnormal reproductive system morphology	2260	FGFR1	ORPHA:280200
HP:0012243	Abnormal reproductive system morphology	28514	DLL1	ORPHA:280200
HP:0012243	Abnormal reproductive system morphology	2253	FGF8	ORPHA:280200
HP:0012243	Abnormal reproductive system morphology	6496	SIX3	ORPHA:280200
HP:0012243	Abnormal reproductive system morphology	7050	TGIF1	ORPHA:280200
HP:0012243	Abnormal reproductive system morphology	4838	NODAL	ORPHA:280200
HP:0012243	Abnormal reproductive system morphology	6469	SHH	ORPHA:280200
HP:0012243	Abnormal reproductive system morphology	51684	SUFU	ORPHA:280200
HP:0012243	Abnormal reproductive system morphology	7546	ZIC2	ORPHA:280200
HP:0012243	Abnormal reproductive system morphology	2619	GAS1	ORPHA:280200
HP:0012243	Abnormal reproductive system morphology	84976	DISP1	ORPHA:280200
HP:0012243	Abnormal reproductive system morphology	2736	GLI2	ORPHA:280200
HP:0012243	Abnormal reproductive system morphology	8928	FOXH1	ORPHA:280200
HP:0012243	Abnormal reproductive system morphology	6997	CRIPTO	ORPHA:280200
HP:0012243	Abnormal reproductive system morphology	5727	PTCH1	ORPHA:280200
HP:0012243	Abnormal reproductive system morphology	50937	CDON	ORPHA:280200
HP:0012243	Abnormal reproductive system morphology	7259	TSPYL1	ORPHA:168593
HP:0012243	Abnormal reproductive system morphology	1108	CHD4	OMIM:617159
HP:0012243	Abnormal reproductive system morphology	114034	TOE1	OMIM:614969
HP:0012243	Abnormal reproductive system morphology	114034	TOE1	ORPHA:284339
HP:0012243	Abnormal reproductive system morphology	284654	RSPO1	OMIM:610644
HP:0012243	Abnormal reproductive system morphology	27077	B9D1	OMIM:614209
HP:0012243	Abnormal reproductive system morphology	27077	B9D1	ORPHA:564
HP:0012243	Abnormal reproductive system morphology	54539	NDUFB11	ORPHA:2556
HP:0012243	Abnormal reproductive system morphology	1349	COX7B	ORPHA:2556
HP:0012243	Abnormal reproductive system morphology	3052	HCCS	ORPHA:2556
HP:0012243	Abnormal reproductive system morphology	84314	TMEM107	ORPHA:564
HP:0012243	Abnormal reproductive system morphology	26123	TCTN3	ORPHA:564
HP:0012243	Abnormal reproductive system morphology	79867	TCTN2	ORPHA:564
HP:0012243	Abnormal reproductive system morphology	79867	TCTN2	OMIM:613885
HP:0012243	Abnormal reproductive system morphology	80776	B9D2	ORPHA:564
HP:0012243	Abnormal reproductive system morphology	79600	TCTN1	ORPHA:564
HP:0012243	Abnormal reproductive system morphology	57096	RPGRIP1	ORPHA:564
HP:0012243	Abnormal reproductive system morphology	79848	CSPP1	ORPHA:564
HP:0012243	Abnormal reproductive system morphology	80184	CEP290	ORPHA:564
HP:0012243	Abnormal reproductive system morphology	51259	TMEM216	ORPHA:564
HP:0012243	Abnormal reproductive system morphology	79583	TMEM231	ORPHA:564
HP:0012243	Abnormal reproductive system morphology	91147	TMEM67	ORPHA:564
HP:0012243	Abnormal reproductive system morphology	79770	TXNDC15	ORPHA:564
HP:0012243	Abnormal reproductive system morphology	79770	TXNDC15	OMIM:619879
HP:0012243	Abnormal reproductive system morphology	23322	RPGRIP1L	ORPHA:564
HP:0012243	Abnormal reproductive system morphology	54903	MKS1	ORPHA:564
HP:0012243	Abnormal reproductive system morphology	65062	TMEM237	ORPHA:564
HP:0012243	Abnormal reproductive system morphology	9184	BUB3	ORPHA:1052
HP:0012243	Abnormal reproductive system morphology	699	BUB1	ORPHA:1052
HP:0012243	Abnormal reproductive system morphology	9702	CEP57	ORPHA:1052
HP:0012243	Abnormal reproductive system morphology	9319	TRIP13	ORPHA:1052
HP:0012243	Abnormal reproductive system morphology	701	BUB1B	ORPHA:1052
HP:0012243	Abnormal reproductive system morphology	701	BUB1B	OMIM:257300
HP:0012243	Abnormal reproductive system morphology	3293	HSD17B3	ORPHA:752
HP:0012243	Abnormal reproductive system morphology	348180	CTU2	OMIM:618142
HP:0012243	Abnormal reproductive system morphology	95681	CEP41	OMIM:614464
HP:0012243	Abnormal reproductive system morphology	150468	CKAP2L	OMIM:272440
HP:0012243	Abnormal reproductive system morphology	57465	TBC1D24	ORPHA:79500
HP:0012243	Abnormal reproductive system morphology	1718	DHCR24	ORPHA:35107
HP:0012243	Abnormal reproductive system morphology	374879	ZNF699	OMIM:619488
HP:0012243	Abnormal reproductive system morphology	2232	FDXR	ORPHA:543470
HP:0012243	Abnormal reproductive system morphology	10293	TRAIP	OMIM:616777
HP:0012243	Abnormal reproductive system morphology	5080	PAX6	ORPHA:893
HP:0012243	Abnormal reproductive system morphology	627	BDNF	ORPHA:893
HP:0012243	Abnormal reproductive system morphology	745	MYRF	OMIM:618280
HP:0012243	Abnormal reproductive system morphology	3284	HSD3B2	OMIM:201810
HP:0012243	Abnormal reproductive system morphology	153241	CEP120	OMIM:616300
HP:0012243	Abnormal reproductive system morphology	3664	IRF6	ORPHA:1300
HP:0012243	Abnormal reproductive system morphology	3239	HOXD13	ORPHA:887
HP:0012243	Abnormal reproductive system morphology	9203	ZMYM3	OMIM:301111
HP:0012243	Abnormal reproductive system morphology	29893	PSMC3IP	ORPHA:243
HP:0012243	Abnormal reproductive system morphology	171568	POLR3H	ORPHA:243
HP:0012243	Abnormal reproductive system morphology	125150	ZSWIM7	ORPHA:243
HP:0012243	Abnormal reproductive system morphology	9210	BMP15	ORPHA:243
HP:0012243	Abnormal reproductive system morphology	57122	NUP107	ORPHA:243
HP:0012243	Abnormal reproductive system morphology	23514	SPIDR	ORPHA:243
HP:0012243	Abnormal reproductive system morphology	2492	FSHR	ORPHA:243
HP:0012243	Abnormal reproductive system morphology	56945	MRPS22	ORPHA:243
HP:0012243	Abnormal reproductive system morphology	646	BNC1	ORPHA:243
HP:0012243	Abnormal reproductive system morphology	4438	MSH4	ORPHA:243
HP:0012243	Abnormal reproductive system morphology	9562	MINPP1	ORPHA:284339
HP:0012243	Abnormal reproductive system morphology	5087	PBX1	OMIM:617641
HP:0012243	Abnormal reproductive system morphology	2535	FZD2	ORPHA:93328
HP:0012243	Abnormal reproductive system morphology	6716	SRD5A2	ORPHA:753
HP:0012243	Abnormal reproductive system morphology	471	ATIC	ORPHA:250977
HP:0012243	Abnormal reproductive system morphology	471	ATIC	OMIM:608688
HP:0012243	Abnormal reproductive system morphology	92002	CCNQ	ORPHA:140952
HP:0012243	Abnormal reproductive system morphology	92002	CCNQ	OMIM:300707
HP:0012243	Abnormal reproductive system morphology	23476	BRD4	ORPHA:199
HP:0012243	Abnormal reproductive system morphology	9126	SMC3	ORPHA:199
HP:0012243	Abnormal reproductive system morphology	8243	SMC1A	ORPHA:199
HP:0012243	Abnormal reproductive system morphology	6878	TAF6	ORPHA:199
HP:0012243	Abnormal reproductive system morphology	55869	HDAC8	ORPHA:199
HP:0012243	Abnormal reproductive system morphology	5885	RAD21	ORPHA:199
HP:0012243	Abnormal reproductive system morphology	64220	STRA6	ORPHA:2470
HP:0012243	Abnormal reproductive system morphology	7477	WNT7B	ORPHA:2470
HP:0012243	Abnormal reproductive system morphology	5915	RARB	ORPHA:2470
HP:0012243	Abnormal reproductive system morphology	4036	LRP2	ORPHA:2143
HP:0012243	Abnormal reproductive system morphology	6299	SALL1	ORPHA:857
HP:0012243	Abnormal reproductive system morphology	51339	DACT1	ORPHA:857
HP:0012243	Abnormal reproductive system morphology	1131	CHRM3	ORPHA:2970
HP:0012243	Abnormal reproductive system morphology	1312	COMT	ORPHA:567
HP:0012243	Abnormal reproductive system morphology	221037	JMJD1C	ORPHA:567
HP:0012243	Abnormal reproductive system morphology	2812	GP1BB	ORPHA:567
HP:0012243	Abnormal reproductive system morphology	6239	RREB1	ORPHA:567
HP:0012243	Abnormal reproductive system morphology	6899	TBX1	ORPHA:567
HP:0012243	Abnormal reproductive system morphology	7290	HIRA	ORPHA:567
HP:0012243	Abnormal reproductive system morphology	9632	SEC24C	ORPHA:567
HP:0012243	Abnormal reproductive system morphology	7353	UFD1	ORPHA:567
HP:0012243	Abnormal reproductive system morphology	421	ARVCF	ORPHA:567
HP:0012243	Abnormal reproductive system morphology	3209	HOXA13	ORPHA:2438
HP:0012243	Abnormal reproductive system morphology	10262	SF3B4	ORPHA:1788
HP:0012243	Abnormal reproductive system morphology	6926	TBX3	ORPHA:3138
HP:0012243	Abnormal reproductive system morphology	4771	NF2	ORPHA:93921
HP:0012243	Abnormal reproductive system morphology	51004	COQ6	ORPHA:93921
HP:0012243	Abnormal reproductive system morphology	4659	PPP1R12A	OMIM:618820
HP:0012243	Abnormal reproductive system morphology	404672	GTF2H5	ORPHA:33364
HP:0012243	Abnormal reproductive system morphology	833	CARS1	ORPHA:33364
HP:0012243	Abnormal reproductive system morphology	2068	ERCC2	ORPHA:33364
HP:0012243	Abnormal reproductive system morphology	7737	RNF113A	ORPHA:33364
HP:0012243	Abnormal reproductive system morphology	136647	MPLKIP	ORPHA:33364
HP:0012243	Abnormal reproductive system morphology	6897	TARS1	ORPHA:33364
HP:0012243	Abnormal reproductive system morphology	16	AARS1	ORPHA:33364
HP:0012243	Abnormal reproductive system morphology	2071	ERCC3	ORPHA:33364
HP:0012243	Abnormal reproductive system morphology	2961	GTF2E2	ORPHA:33364
HP:0012243	Abnormal reproductive system morphology	10329	RXYLT1	OMIM:615041
HP:0012243	Abnormal reproductive system morphology	56652	TWNK	OMIM:616138
HP:0012243	Abnormal reproductive system morphology	55012	PPP2R3C	OMIM:618419
HP:0012243	Abnormal reproductive system morphology	3295	HSD17B4	OMIM:233400
HP:0012243	Abnormal reproductive system morphology	4609	MYC	ORPHA:543
HP:0012243	Abnormal reproductive system morphology	5340	PLG	ORPHA:722
HP:0012243	Abnormal reproductive system morphology	5295	PIK3R1	OMIM:269880
HP:0012243	Abnormal reproductive system morphology	4913	NTHL1	ORPHA:454840
HP:0012243	Abnormal reproductive system morphology	55503	TRPV6	OMIM:618188
HP:0012243	Abnormal reproductive system morphology	2155	F7	ORPHA:327
HP:0012243	Abnormal reproductive system morphology	4437	MSH3	OMIM:617100
HP:0012243	Abnormal reproductive system morphology	4088	SMAD3	ORPHA:284984
HP:0012243	Abnormal reproductive system morphology	4088	SMAD3	OMIM:613795
HP:0012243	Abnormal reproductive system morphology	6197	RPS6KA3	OMIM:303600
HP:0012243	Abnormal reproductive system morphology	84818	IL17RC	ORPHA:1334
HP:0012243	Abnormal reproductive system morphology	64581	CLEC7A	ORPHA:1334
HP:0012243	Abnormal reproductive system morphology	23765	IL17RA	ORPHA:1334
HP:0012243	Abnormal reproductive system morphology	10758	TRAF3IP2	ORPHA:1334
HP:0012243	Abnormal reproductive system morphology	112744	IL17F	ORPHA:1334
HP:0012243	Abnormal reproductive system morphology	219844	HYLS1	OMIM:236680
HP:0012243	Abnormal reproductive system morphology	57167	SALL4	OMIM:147750
HP:0012243	Abnormal reproductive system morphology	57167	SALL4	ORPHA:2307
HP:0012243	Abnormal reproductive system morphology	3588	IL10RB	OMIM:612567
HP:0012243	Abnormal reproductive system morphology	10653	SPINT2	OMIM:270420
HP:0012243	Abnormal reproductive system morphology	267010	RNU12	OMIM:603116
HP:0012243	Abnormal reproductive system morphology	1642	DDB1	OMIM:619426
HP:0012243	Abnormal reproductive system morphology	3718	JAK3	ORPHA:35078
HP:0012243	Abnormal reproductive system morphology	5297	PI4KA	OMIM:619708
HP:0012243	Abnormal reproductive system morphology	4519	MT-CYB	ORPHA:137675
HP:0012243	Abnormal reproductive system morphology	2321	FLT1	ORPHA:275555
HP:0012243	Abnormal reproductive system morphology	219736	STOX1	ORPHA:275555
HP:0012243	Abnormal reproductive system morphology	10699	CORIN	ORPHA:275555
HP:0012243	Abnormal reproductive system morphology	118429	ANTXR2	ORPHA:2176
HP:0012243	Abnormal reproductive system morphology	5346	PLIN1	ORPHA:280356
HP:0012243	Abnormal reproductive system morphology	63924	CIDEC	ORPHA:435651
HP:0012243	Abnormal reproductive system morphology	6927	HNF1A	OMIM:142330
HP:0012243	Abnormal reproductive system morphology	2542	SLC37A4	ORPHA:79259
HP:0012243	Abnormal reproductive system morphology	208	AKT2	ORPHA:79085
HP:0012243	Abnormal reproductive system morphology	5257	PHKB	ORPHA:79240
HP:0012243	Abnormal reproductive system morphology	11145	PLAAT3	OMIM:620683
HP:0012243	Abnormal reproductive system morphology	4313	MMP2	ORPHA:371428
HP:0012243	Abnormal reproductive system morphology	4323	MMP14	ORPHA:371428
HP:0012243	Abnormal reproductive system morphology	5256	PHKA2	ORPHA:264580
HP:0012243	Abnormal reproductive system morphology	5261	PHKG2	ORPHA:264580
HP:0012243	Abnormal reproductive system morphology	24145	PANX1	ORPHA:488191
HP:0012243	Abnormal reproductive system morphology	494551	WEE2	ORPHA:488191
HP:0012243	Abnormal reproductive system morphology	197135	PATL2	ORPHA:488191
HP:0012243	Abnormal reproductive system morphology	347688	TUBB8	ORPHA:488191
HP:0012243	Abnormal reproductive system morphology	29072	SETD2	OMIM:616831
HP:0012243	Abnormal reproductive system morphology	4487	MSX1	ORPHA:2228
HP:0012243	Abnormal reproductive system morphology	158326	FREM1	OMIM:248450
HP:0012243	Abnormal reproductive system morphology	2625	GATA3	ORPHA:2237
HP:0012243	Abnormal reproductive system morphology	9928	KIF14	OMIM:616258
HP:0012243	Abnormal reproductive system morphology	9928	KIF14	OMIM:617914
HP:0012243	Abnormal reproductive system morphology	2263	FGFR2	OMIM:207410
HP:0012243	Abnormal reproductive system morphology	2263	FGFR2	OMIM:101200
HP:0012243	Abnormal reproductive system morphology	166379	BBS12	OMIM:615989
HP:0012243	Abnormal reproductive system morphology	79140	CCDC28B	OMIM:209900
HP:0012243	Abnormal reproductive system morphology	582	BBS1	OMIM:209900
HP:0012243	Abnormal reproductive system morphology	340419	RSPO2	ORPHA:3301
HP:0012243	Abnormal reproductive system morphology	9496	TBX4	ORPHA:3301
HP:0012243	Abnormal reproductive system morphology	9939	RBM8A	ORPHA:3320
HP:0012243	Abnormal reproductive system morphology	9939	RBM8A	OMIM:274000
HP:0012243	Abnormal reproductive system morphology	5518	PPP2R1A	ORPHA:457284
HP:0012243	Abnormal reproductive system morphology	1317	SLC31A1	OMIM:620306
HP:0012243	Abnormal reproductive system morphology	101929726	MYMX	ORPHA:1358
HP:0012243	Abnormal reproductive system morphology	3481	IGF2	ORPHA:231140
HP:0012243	Abnormal reproductive system morphology	283120	H19	ORPHA:231140
HP:0012243	Abnormal reproductive system morphology	526	ATP6V1B2	ORPHA:3473
HP:0012243	Abnormal reproductive system morphology	3756	KCNH1	ORPHA:3473
HP:0012243	Abnormal reproductive system morphology	3782	KCNN3	ORPHA:3473
HP:0012243	Abnormal reproductive system morphology	1585	CYP11B2	ORPHA:556030
HP:0012243	Abnormal reproductive system morphology	5447	POR	ORPHA:95699
HP:0012243	Abnormal reproductive system morphology	6736	SRY	ORPHA:1772
HP:0012243	Abnormal reproductive system morphology	6736	SRY	ORPHA:251510
HP:0012243	Abnormal reproductive system morphology	57647	DHX37	OMIM:273250
HP:0012243	Abnormal reproductive system morphology	57647	DHX37	ORPHA:251510
HP:0012243	Abnormal reproductive system morphology	6662	SOX9	ORPHA:251510
HP:0012243	Abnormal reproductive system morphology	6845	VAMP7	ORPHA:251510
HP:0012243	Abnormal reproductive system morphology	51741	WWOX	ORPHA:251510
HP:0012243	Abnormal reproductive system morphology	4214	MAP3K1	ORPHA:251510
HP:0012243	Abnormal reproductive system morphology	2516	NR5A1	ORPHA:251510
HP:0012243	Abnormal reproductive system morphology	7490	WT1	ORPHA:251510
HP:0012243	Abnormal reproductive system morphology	23414	ZFPM2	ORPHA:251510
HP:0012243	Abnormal reproductive system morphology	190	NR0B1	ORPHA:251510
HP:0012243	Abnormal reproductive system morphology	2626	GATA4	ORPHA:251510
HP:0012243	Abnormal reproductive system morphology	57545	CC2D2A	OMIM:612284
HP:0012243	Abnormal reproductive system morphology	2294	FOXF1	OMIM:265380
HP:0012243	Abnormal reproductive system morphology	79796	ALG9	ORPHA:79328
HP:0012243	Abnormal reproductive system morphology	79796	ALG9	OMIM:263210
HP:0012243	Abnormal reproductive system morphology	3110	MNX1	ORPHA:1552
HP:0012243	Abnormal reproductive system morphology	3110	MNX1	OMIM:176450
HP:0012243	Abnormal reproductive system morphology	27152	INTU	OMIM:617925
HP:0012243	Abnormal reproductive system morphology	7355	SLC35A2	OMIM:300896
HP:0012243	Abnormal reproductive system morphology	55612	FERMT1	OMIM:173650
HP:0012243	Abnormal reproductive system morphology	55612	FERMT1	ORPHA:2908
HP:0012243	Abnormal reproductive system morphology	55780	ERMARD	ORPHA:75857
HP:0012243	Abnormal reproductive system morphology	581	BAX	OMIM:114500
HP:0012243	Abnormal reproductive system morphology	25788	RAD54B	OMIM:114500
HP:0012243	Abnormal reproductive system morphology	5795	PTPRJ	OMIM:114500
HP:0012243	Abnormal reproductive system morphology	5157	PDGFRL	OMIM:114500
HP:0012243	Abnormal reproductive system morphology	10395	DLC1	OMIM:114500
HP:0012243	Abnormal reproductive system morphology	8313	AXIN2	OMIM:114500
HP:0012243	Abnormal reproductive system morphology	4163	MCC	OMIM:114500
HP:0012243	Abnormal reproductive system morphology	201163	FLCN	OMIM:114500
HP:0012243	Abnormal reproductive system morphology	7097	TLR2	OMIM:114500
HP:0012243	Abnormal reproductive system morphology	6714	SRC	OMIM:114500
HP:0012243	Abnormal reproductive system morphology	27030	MLH3	OMIM:114500
HP:0012243	Abnormal reproductive system morphology	5320	PLA2G2A	OMIM:114500
HP:0012243	Abnormal reproductive system morphology	6790	AURKA	OMIM:114500
HP:0012243	Abnormal reproductive system morphology	5782	PTPN12	OMIM:114500
HP:0012243	Abnormal reproductive system morphology	59344	ALOXE3	OMIM:242100
HP:0012243	Abnormal reproductive system morphology	242	ALOX12B	OMIM:242100
HP:0012243	Abnormal reproductive system morphology	23347	SMCHD1	ORPHA:2250
HP:0012243	Abnormal reproductive system morphology	11020	IFT27	OMIM:615996
HP:0012243	Abnormal reproductive system morphology	10806	SDCCAG8	OMIM:615993
HP:0012243	Abnormal reproductive system morphology	9791	PTDSS1	ORPHA:2658
HP:0012243	Abnormal reproductive system morphology	23314	SATB2	ORPHA:251028
HP:0012243	Abnormal reproductive system morphology	8818	DPM2	ORPHA:329178
HP:0012243	Abnormal reproductive system morphology	80152	CENPT	OMIM:618702
HP:0012243	Abnormal reproductive system morphology	5189	PEX1	ORPHA:3220
HP:0012243	Abnormal reproductive system morphology	5190	PEX6	ORPHA:3220
HP:0012243	Abnormal reproductive system morphology	100033413	SNORD116-1	OMIM:176270
HP:0012243	Abnormal reproductive system morphology	8924	HERC2	OMIM:176270
HP:0012243	Abnormal reproductive system morphology	23742	NPAP1	OMIM:176270
HP:0012243	Abnormal reproductive system morphology	338433	SNORD115-1	OMIM:176270
HP:0012243	Abnormal reproductive system morphology	54551	MAGEL2	OMIM:176270
HP:0012243	Abnormal reproductive system morphology	54551	MAGEL2	ORPHA:98754
HP:0012243	Abnormal reproductive system morphology	54551	MAGEL2	ORPHA:177904
HP:0012243	Abnormal reproductive system morphology	54551	MAGEL2	ORPHA:177901
HP:0012243	Abnormal reproductive system morphology	54551	MAGEL2	ORPHA:398069
HP:0012243	Abnormal reproductive system morphology	54551	MAGEL2	ORPHA:177910
HP:0012243	Abnormal reproductive system morphology	7681	MKRN3	OMIM:176270
HP:0012243	Abnormal reproductive system morphology	145624	PWAR1	OMIM:176270
HP:0012243	Abnormal reproductive system morphology	3653	IPW	OMIM:176270
HP:0012243	Abnormal reproductive system morphology	791114	PWRN1	OMIM:176270
HP:0012243	Abnormal reproductive system morphology	51124	IER3IP1	OMIM:614231
HP:0012243	Abnormal reproductive system morphology	6492	SIM1	ORPHA:398079
HP:0012243	Abnormal reproductive system morphology	57492	ARID1B	ORPHA:251056
HP:0012243	Abnormal reproductive system morphology	7841	MOGS	ORPHA:79330
HP:0012243	Abnormal reproductive system morphology	388015	RTL1	ORPHA:96334
HP:0012243	Abnormal reproductive system morphology	8788	DLK1	ORPHA:96334
HP:0012243	Abnormal reproductive system morphology	55384	MEG3	ORPHA:96334
HP:0012243	Abnormal reproductive system morphology	6638	SNRPN	ORPHA:98754
HP:0012243	Abnormal reproductive system morphology	6638	SNRPN	ORPHA:177904
HP:0012243	Abnormal reproductive system morphology	6638	SNRPN	ORPHA:177901
HP:0012243	Abnormal reproductive system morphology	6638	SNRPN	ORPHA:177910
HP:0012243	Abnormal reproductive system morphology	6638	SNRPN	ORPHA:177907
HP:0012243	Abnormal reproductive system morphology	4692	NDN	ORPHA:98754
HP:0012243	Abnormal reproductive system morphology	4692	NDN	ORPHA:177904
HP:0012243	Abnormal reproductive system morphology	4692	NDN	ORPHA:177901
HP:0012243	Abnormal reproductive system morphology	4692	NDN	ORPHA:177910
HP:0012243	Abnormal reproductive system morphology	4948	OCA2	ORPHA:98754
HP:0012243	Abnormal reproductive system morphology	4948	OCA2	ORPHA:177904
HP:0012243	Abnormal reproductive system morphology	4948	OCA2	ORPHA:177901
HP:0012243	Abnormal reproductive system morphology	5889	RAD51C	OMIM:613390
HP:0012243	Abnormal reproductive system morphology	22930	RAB3GAP1	OMIM:600118
HP:0012243	Abnormal reproductive system morphology	1968	EIF2S3	ORPHA:85282
HP:0012243	Abnormal reproductive system morphology	8813	DPM1	ORPHA:79322
HP:0012243	Abnormal reproductive system morphology	84100	ARL6	OMIM:600151
HP:0012243	Abnormal reproductive system morphology	583	BBS2	OMIM:615981
HP:0012243	Abnormal reproductive system morphology	585	BBS4	OMIM:615982
HP:0012243	Abnormal reproductive system morphology	129880	BBS5	OMIM:615983
HP:0012243	Abnormal reproductive system morphology	55636	CHD7	OMIM:214800
HP:0012243	Abnormal reproductive system morphology	8195	MKKS	OMIM:605231
HP:0012243	Abnormal reproductive system morphology	64374	SIL1	ORPHA:559
HP:0012243	Abnormal reproductive system morphology	4089	SMAD4	ORPHA:2588
HP:0012243	Abnormal reproductive system morphology	57724	EPG5	OMIM:242840
HP:0012243	Abnormal reproductive system morphology	3643	INSR	ORPHA:508
HP:0012243	Abnormal reproductive system morphology	5468	PPARG	ORPHA:528
HP:0012243	Abnormal reproductive system morphology	10555	AGPAT2	ORPHA:528
HP:0012243	Abnormal reproductive system morphology	284119	CAVIN1	ORPHA:528
HP:0012243	Abnormal reproductive system morphology	26580	BSCL2	ORPHA:528
HP:0012243	Abnormal reproductive system morphology	2353	FOS	ORPHA:528
HP:0012243	Abnormal reproductive system morphology	857	CAV1	ORPHA:528
HP:0012243	Abnormal reproductive system morphology	1028	CDKN1C	OMIM:130650
HP:0012243	Abnormal reproductive system morphology	3784	KCNQ1	OMIM:130650
HP:0012243	Abnormal reproductive system morphology	10984	KCNQ1OT1	OMIM:130650
HP:0012243	Abnormal reproductive system morphology	7128	TNFAIP3	OMIM:616744
HP:0012243	Abnormal reproductive system morphology	5604	MAP2K1	ORPHA:389
HP:0012243	Abnormal reproductive system morphology	4893	NRAS	ORPHA:389
HP:0012243	Abnormal reproductive system morphology	673	BRAF	ORPHA:389
HP:0012243	Abnormal reproductive system morphology	64421	DCLRE1C	OMIM:602450
HP:0012243	Abnormal reproductive system morphology	149233	IL23R	ORPHA:117
HP:0012243	Abnormal reproductive system morphology	6775	STAT4	ORPHA:117
HP:0012243	Abnormal reproductive system morphology	3586	IL10	ORPHA:117
HP:0012243	Abnormal reproductive system morphology	4210	MEFV	ORPHA:117
HP:0012243	Abnormal reproductive system morphology	1230	CCR1	ORPHA:117
HP:0012243	Abnormal reproductive system morphology	355	FAS	ORPHA:117
HP:0012243	Abnormal reproductive system morphology	3592	IL12A	ORPHA:117
HP:0012243	Abnormal reproductive system morphology	101928376	IL12A-AS1	ORPHA:117
HP:0012243	Abnormal reproductive system morphology	3106	HLA-B	ORPHA:117
HP:0012243	Abnormal reproductive system morphology	7099	TLR4	ORPHA:117
HP:0012243	Abnormal reproductive system morphology	3459	IFNGR1	ORPHA:117
HP:0012243	Abnormal reproductive system morphology	720	C4A	ORPHA:117
HP:0012243	Abnormal reproductive system morphology	337867	UBAC2	ORPHA:117
HP:0012243	Abnormal reproductive system morphology	51752	ERAP1	ORPHA:117
HP:0012243	Abnormal reproductive system morphology	8302	KLRC4	ORPHA:117
HP:0012243	Abnormal reproductive system morphology	5077	PAX3	OMIM:193500
HP:0012243	Abnormal reproductive system morphology	7476	WNT7A	OMIM:276820
HP:0012243	Abnormal reproductive system morphology	8312	AXIN1	OMIM:607864
HP:0012243	Abnormal reproductive system morphology	6650	CAPN15	OMIM:619318
HP:0012243	Abnormal reproductive system morphology	2064	ERBB2	OMIM:167000
HP:0012243	Abnormal reproductive system morphology	1499	CTNNB1	OMIM:167000
HP:0012243	Abnormal reproductive system morphology	999	CDH1	OMIM:167000
HP:0012243	Abnormal reproductive system morphology	4978	OPCML	OMIM:167000
HP:0012243	Abnormal reproductive system morphology	5071	PRKN	OMIM:167000
HP:0012243	Abnormal reproductive system morphology	2074	ERCC6	OMIM:278800
HP:0012243	Abnormal reproductive system morphology	3476	IGBP1	OMIM:300472
HP:0012243	Abnormal reproductive system morphology	55610	VPS50	OMIM:619685
HP:0012243	Abnormal reproductive system morphology	2222	FDFT1	OMIM:618156
HP:0012243	Abnormal reproductive system morphology	50485	SMARCAL1	OMIM:242900
HP:0012243	Abnormal reproductive system morphology	10667	FARS2	ORPHA:466722
HP:0012243	Abnormal reproductive system morphology	4047	LSS	OMIM:618840
HP:0012243	Abnormal reproductive system morphology	10606	PAICS	OMIM:619859
HP:0012243	Abnormal reproductive system morphology	5648	MASP1	ORPHA:293843
HP:0012243	Abnormal reproductive system morphology	10210	TOPORS	ORPHA:2754
HP:0012243	Abnormal reproductive system morphology	9851	KIAA0753	ORPHA:2754
HP:0012243	Abnormal reproductive system morphology	5147	PDE6D	ORPHA:2754
HP:0012243	Abnormal reproductive system morphology	65250	CPLANE1	ORPHA:2754
HP:0012243	Abnormal reproductive system morphology	8481	OFD1	ORPHA:2754
HP:0012243	Abnormal reproductive system morphology	317662	FAM149B1	ORPHA:2754
HP:0012243	Abnormal reproductive system morphology	80311	KLHL15	OMIM:300982
HP:0012243	Abnormal reproductive system morphology	22884	WDR37	OMIM:618652
HP:0012243	Abnormal reproductive system morphology	4174	MCM5	OMIM:617564
HP:0012243	Abnormal reproductive system morphology	10568	SLC34A2	ORPHA:60025
HP:0012243	Abnormal reproductive system morphology	164045	HFM1	OMIM:615724
HP:0012243	Abnormal reproductive system morphology	135935	NOBOX	OMIM:611548
HP:0012243	Abnormal reproductive system morphology	3763	KCNJ6	ORPHA:435628
HP:0012243	Abnormal reproductive system morphology	84515	MCM8	OMIM:612885
HP:0012243	Abnormal reproductive system morphology	10084	PQBP1	ORPHA:93950
HP:0012243	Abnormal reproductive system morphology	10084	PQBP1	OMIM:309500
HP:0012243	Abnormal reproductive system morphology	9150	CTDP1	OMIM:604168
HP:0012243	Abnormal reproductive system morphology	201134	CEP112	OMIM:619044
HP:0012243	Abnormal reproductive system morphology	8882	ZPR1	OMIM:619321
HP:0012243	Abnormal reproductive system morphology	140801	RPL10L	OMIM:619689
HP:0012243	Abnormal reproductive system morphology	140801	RPL10L	ORPHA:399805
HP:0012243	Abnormal reproductive system morphology	3952	LEP	ORPHA:66628
HP:0012243	Abnormal reproductive system morphology	3952	LEP	OMIM:614962
HP:0012243	Abnormal reproductive system morphology	79184	BRCC3	ORPHA:280679
HP:0012243	Abnormal reproductive system morphology	9820	CUL7	OMIM:273750
HP:0012243	Abnormal reproductive system morphology	55630	SLC39A4	OMIM:201100
HP:0012243	Abnormal reproductive system morphology	23312	DMXL2	OMIM:616113
HP:0012243	Abnormal reproductive system morphology	23312	DMXL2	ORPHA:453533
HP:0012243	Abnormal reproductive system morphology	56154	TEX15	OMIM:617960
HP:0012243	Abnormal reproductive system morphology	56154	TEX15	ORPHA:399805
HP:0012243	Abnormal reproductive system morphology	3953	LEPR	ORPHA:179494
HP:0012243	Abnormal reproductive system morphology	5626	PROP1	ORPHA:95494
HP:0012243	Abnormal reproductive system morphology	5626	PROP1	ORPHA:90695
HP:0012243	Abnormal reproductive system morphology	3170	FOXA2	ORPHA:95494
HP:0012243	Abnormal reproductive system morphology	5449	POU1F1	ORPHA:95494
HP:0012243	Abnormal reproductive system morphology	154197	PNLDC1	OMIM:619528
HP:0012243	Abnormal reproductive system morphology	154197	PNLDC1	ORPHA:399805
HP:0012243	Abnormal reproductive system morphology	6875	TAF4B	ORPHA:399805
HP:0012243	Abnormal reproductive system morphology	254528	MEIOB	ORPHA:399805
HP:0012243	Abnormal reproductive system morphology	10734	STAG3	ORPHA:399805
HP:0012243	Abnormal reproductive system morphology	145645	TERB2	ORPHA:399805
HP:0012243	Abnormal reproductive system morphology	54967	CT55	ORPHA:399805
HP:0012243	Abnormal reproductive system morphology	4439	MSH5	ORPHA:399805
HP:0012243	Abnormal reproductive system morphology	283847	TERB1	ORPHA:399805
HP:0012243	Abnormal reproductive system morphology	144132	DNHD1	ORPHA:399805
HP:0012243	Abnormal reproductive system morphology	1080	CFTR	ORPHA:399805
HP:0012243	Abnormal reproductive system morphology	50511	SYCP3	ORPHA:399805
HP:0012243	Abnormal reproductive system morphology	285498	RNF212	ORPHA:399805
HP:0012243	Abnormal reproductive system morphology	54456	MOV10L1	ORPHA:399805
HP:0012243	Abnormal reproductive system morphology	56155	TEX14	ORPHA:399805
HP:0012243	Abnormal reproductive system morphology	91057	CCDC34	ORPHA:399805
HP:0012243	Abnormal reproductive system morphology	375307	CATIP	ORPHA:399805
HP:0012243	Abnormal reproductive system morphology	196385	DNAH10	ORPHA:399805
HP:0012243	Abnormal reproductive system morphology	200162	SPAG17	ORPHA:399805
HP:0012243	Abnormal reproductive system morphology	84225	ZMYND15	ORPHA:399805
HP:0012243	Abnormal reproductive system morphology	93426	SYCE1	ORPHA:399805
HP:0012243	Abnormal reproductive system morphology	286151	FBXO43	ORPHA:399805
HP:0012243	Abnormal reproductive system morphology	158401	SHOC1	ORPHA:399805
HP:0012243	Abnormal reproductive system morphology	5161	PDHA2	ORPHA:399805
HP:0012243	Abnormal reproductive system morphology	5373	PMM2	ORPHA:79318
HP:0012243	Abnormal reproductive system morphology	80067	DCAF17	OMIM:241080
HP:0012243	Abnormal reproductive system morphology	55315	SLC29A3	ORPHA:168569
HP:0012243	Abnormal reproductive system morphology	63901	FAM111A	ORPHA:93325
HP:0012243	Abnormal reproductive system morphology	5396	PRRX1	ORPHA:990
HP:0012243	Abnormal reproductive system morphology	5048	PAFAH1B1	ORPHA:217385
HP:0012243	Abnormal reproductive system morphology	7531	YWHAE	ORPHA:217385
HP:0012243	Abnormal reproductive system morphology	9897	WASHC5	ORPHA:7
HP:0012243	Abnormal reproductive system morphology	2690	GHR	ORPHA:633
HP:0012243	Abnormal reproductive system morphology	4665	NAB2	ORPHA:2126
HP:0012243	Abnormal reproductive system morphology	6778	STAT6	ORPHA:2126
HP:0012243	Abnormal reproductive system morphology	7428	VHL	ORPHA:892
HP:0012243	Abnormal reproductive system morphology	7428	VHL	OMIM:193300
HP:0012243	Abnormal reproductive system morphology	595	CCND1	ORPHA:892
HP:0012243	Abnormal reproductive system morphology	595	CCND1	OMIM:193300
HP:0012243	Abnormal reproductive system morphology	23384	SPECC1L	ORPHA:1519
HP:0012243	Abnormal reproductive system morphology	10225	CD96	ORPHA:1308
HP:0012243	Abnormal reproductive system morphology	1288	COL4A6	ORPHA:1018
HP:0012243	Abnormal reproductive system morphology	1287	COL4A5	ORPHA:1018
HP:0012243	Abnormal reproductive system morphology	197131	UBR1	ORPHA:2315
HP:0012243	Abnormal reproductive system morphology	5824	PEX19	OMIM:614886
HP:0012243	Abnormal reproductive system morphology	546	ATRX	ORPHA:847
HP:0012243	Abnormal reproductive system morphology	78995	HROB	OMIM:620897
HP:0012243	Abnormal reproductive system morphology	23438	HARS2	OMIM:614926
HP:0012243	Abnormal reproductive system morphology	392255	GDF6	OMIM:613094
HP:0012243	Abnormal reproductive system morphology	6794	STK11	OMIM:175200
HP:0012243	Abnormal reproductive system morphology	79577	CDC73	ORPHA:143
HP:0012243	Abnormal reproductive system morphology	79577	CDC73	ORPHA:99880
HP:0012243	Abnormal reproductive system morphology	2130	EWSR1	ORPHA:83469
HP:0012243	Abnormal reproductive system morphology	1027	CDKN1B	ORPHA:276152
HP:0012243	Abnormal reproductive system morphology	1029	CDKN2A	ORPHA:524
HP:0012243	Abnormal reproductive system morphology	4193	MDM2	ORPHA:524
HP:0012243	Abnormal reproductive system morphology	3972	LHB	OMIM:228300
HP:0012243	Abnormal reproductive system morphology	7157	TP53	ORPHA:145
HP:0012243	Abnormal reproductive system morphology	5892	RAD51D	ORPHA:145
HP:0012243	Abnormal reproductive system morphology	10111	RAD50	ORPHA:145
HP:0012243	Abnormal reproductive system morphology	580	BARD1	ORPHA:145
HP:0012243	Abnormal reproductive system morphology	4683	NBN	ORPHA:145
HP:0012243	Abnormal reproductive system morphology	4361	MRE11	ORPHA:145
HP:0012243	Abnormal reproductive system morphology	11200	CHEK2	ORPHA:145
HP:0012243	Abnormal reproductive system morphology	374654	KIF7	ORPHA:2189
HP:0012243	Abnormal reproductive system morphology	388662	SLC6A17	ORPHA:457212
HP:0012243	Abnormal reproductive system morphology	2048	EPHB2	OMIM:603688
HP:0012243	Abnormal reproductive system morphology	463	ZFHX3	OMIM:176807
HP:0012243	Abnormal reproductive system morphology	4601	MXI1	OMIM:176807
HP:0012243	Abnormal reproductive system morphology	8379	MAD1L1	OMIM:176807
HP:0012243	Abnormal reproductive system morphology	1316	KLF6	OMIM:176807
HP:0012243	Abnormal reproductive system morphology	6041	RNASEL	OMIM:601518
HP:0012243	Abnormal reproductive system morphology	26585	GREM1	ORPHA:157794
HP:0012243	Abnormal reproductive system morphology	324	APC	ORPHA:79665
HP:0012243	Abnormal reproductive system morphology	7373	COL14A1	ORPHA:79501
HP:0012243	Abnormal reproductive system morphology	79719	AAGAB	ORPHA:79501
HP:0012243	Abnormal reproductive system morphology	81833	SPACA1	OMIM:620490
HP:0012243	Abnormal reproductive system morphology	84660	CCDC62	OMIM:619803
HP:0012243	Abnormal reproductive system morphology	199720	GGN	OMIM:619826
HP:0012243	Abnormal reproductive system morphology	151254	C2CD6	OMIM:619805
HP:0012243	Abnormal reproductive system morphology	11055	ZPBP	OMIM:619799
HP:0012243	Abnormal reproductive system morphology	283417	DPY19L2	OMIM:613958
HP:0012243	Abnormal reproductive system morphology	83893	SPATA16	OMIM:102530
HP:0012243	Abnormal reproductive system morphology	881	CCIN	OMIM:620838
HP:0012243	Abnormal reproductive system morphology	51715	RAB23	ORPHA:65759
HP:0012243	Abnormal reproductive system morphology	1954	MEGF8	ORPHA:65759
HP:0012243	Abnormal reproductive system morphology	56244	BTNL2	ORPHA:797
HP:0012243	Abnormal reproductive system morphology	3123	HLA-DRB1	ORPHA:797
HP:0012243	Abnormal reproductive system morphology	10128	LRPPRC	ORPHA:70472
HP:0012243	Abnormal reproductive system morphology	1528	CYB5A	ORPHA:90796
HP:0012243	Abnormal reproductive system morphology	1586	CYP17A1	ORPHA:90796
HP:0012243	Abnormal reproductive system morphology	1583	CYP11A1	ORPHA:289548
HP:0012243	Abnormal reproductive system morphology	1583	CYP11A1	ORPHA:168558
HP:0012243	Abnormal reproductive system morphology	54361	WNT4	ORPHA:139466
HP:0012243	Abnormal reproductive system morphology	54361	WNT4	OMIM:611812
HP:0012243	Abnormal reproductive system morphology	51574	LARP7	OMIM:615071
HP:0012243	Abnormal reproductive system morphology	6904	TBCD	OMIM:617193
HP:0012243	Abnormal reproductive system morphology	64132	XYLT2	OMIM:605822
HP:0012243	Abnormal reproductive system morphology	104	ADARB1	OMIM:618862
HP:0012243	Abnormal reproductive system morphology	90121	TSR2	OMIM:300946
HP:0012243	Abnormal reproductive system morphology	4781	NFIB	OMIM:618286
HP:0012243	Abnormal reproductive system morphology	83479	DDX59	OMIM:174300
HP:0012243	Abnormal reproductive system morphology	84282	RNF135	ORPHA:137634
HP:0012243	Abnormal reproductive system morphology	3229	HOXC13	OMIM:614931
HP:0012243	Abnormal reproductive system morphology	64359	NXN	ORPHA:1507
HP:0012243	Abnormal reproductive system morphology	4920	ROR2	ORPHA:1507
HP:0012243	Abnormal reproductive system morphology	5881	RAC3	OMIM:618577
HP:0012243	Abnormal reproductive system morphology	7840	ALMS1	ORPHA:64
HP:0012243	Abnormal reproductive system morphology	340719	NANOS1	OMIM:615413
HP:0012243	Abnormal reproductive system morphology	317719	KLHL10	OMIM:615081
HP:0012243	Abnormal reproductive system morphology	124404	SEPTIN12	OMIM:614822
HP:0012243	Abnormal reproductive system morphology	57704	GBA2	ORPHA:320391
HP:0012243	Abnormal reproductive system morphology	2488	FSHB	ORPHA:52901
HP:0012243	Abnormal reproductive system morphology	8556	CDC14A	OMIM:608653
HP:0012243	Abnormal reproductive system morphology	161497	STRC	OMIM:611102
HP:0012243	Abnormal reproductive system morphology	117155	CATSPER2	OMIM:611102
HP:0012243	Abnormal reproductive system morphology	1538	CYLC1	OMIM:301119
HP:0012243	Abnormal reproductive system morphology	10881	ACTL7A	OMIM:620499
HP:0012243	Abnormal reproductive system morphology	84071	ARMC2	OMIM:618433
HP:0012243	Abnormal reproductive system morphology	140732	SUN5	ORPHA:529970
HP:0012243	Abnormal reproductive system morphology	83449	PMFBP1	ORPHA:529970
HP:0012243	Abnormal reproductive system morphology	676	BRDT	OMIM:617644
HP:0012243	Abnormal reproductive system morphology	80705	TSGA10	OMIM:617961
HP:0012243	Abnormal reproductive system morphology	10149	ADGRG2	ORPHA:48
HP:0012243	Abnormal reproductive system morphology	10149	ADGRG2	OMIM:300985
HP:0012243	Abnormal reproductive system morphology	2947	GSTM3	ORPHA:586
HP:0012243	Abnormal reproductive system morphology	7040	TGFB1	ORPHA:586
HP:0012243	Abnormal reproductive system morphology	2729	GCLC	ORPHA:586
HP:0012243	Abnormal reproductive system morphology	1084	CEACAM3	ORPHA:586
HP:0012243	Abnormal reproductive system morphology	6556	SLC11A1	ORPHA:586
HP:0012243	Abnormal reproductive system morphology	51164	DCTN4	ORPHA:586
HP:0012243	Abnormal reproductive system morphology	3783	KCNN4	ORPHA:586
HP:0012243	Abnormal reproductive system morphology	4282	MIF	ORPHA:586
HP:0012243	Abnormal reproductive system morphology	1909	EDNRA	ORPHA:586
HP:0012243	Abnormal reproductive system morphology	6550	SLC9A3	ORPHA:586
HP:0012243	Abnormal reproductive system morphology	3162	HMOX1	ORPHA:586
HP:0012243	Abnormal reproductive system morphology	115019	SLC26A9	ORPHA:586
HP:0012243	Abnormal reproductive system morphology	11254	SLC6A14	ORPHA:586
HP:0012243	Abnormal reproductive system morphology	5265	SERPINA1	ORPHA:586
HP:0012243	Abnormal reproductive system morphology	22802	CLCA4	ORPHA:586
HP:0012243	Abnormal reproductive system morphology	4680	CEACAM6	ORPHA:586
HP:0012243	Abnormal reproductive system morphology	3991	LIPE	ORPHA:435660
HP:0012243	Abnormal reproductive system morphology	5618	PRLR	ORPHA:397685
HP:0012243	Abnormal reproductive system morphology	285282	RABL3	ORPHA:1333
HP:0012243	Abnormal reproductive system morphology	23022	PALLD	ORPHA:1333
HP:0012243	Abnormal reproductive system morphology	1294	COL7A1	ORPHA:79409
HP:0012243	Abnormal reproductive system morphology	6795	AURKC	OMIM:243060
HP:0012243	Abnormal reproductive system morphology	89876	CFAP91	OMIM:619177
HP:0012243	Abnormal reproductive system morphology	1277	COL1A1	ORPHA:287
HP:0012243	Abnormal reproductive system morphology	1289	COL5A1	ORPHA:287
HP:0012243	Abnormal reproductive system morphology	1290	COL5A2	ORPHA:287
HP:0012243	Abnormal reproductive system morphology	57514	ARHGAP31	OMIM:100300
HP:0012243	Abnormal reproductive system morphology	79803	HPS6	OMIM:614075
HP:0012243	Abnormal reproductive system morphology	657	BMPR1A	ORPHA:79076
HP:0012243	Abnormal reproductive system morphology	56983	POGLUT1	ORPHA:79145
HP:0012243	Abnormal reproductive system morphology	3852	KRT5	ORPHA:79145
HP:0012243	Abnormal reproductive system morphology	23509	POFUT1	ORPHA:79145
HP:0012243	Abnormal reproductive system morphology	55851	PSENEN	ORPHA:79145
HP:0012243	Abnormal reproductive system morphology	220296	HEPACAM	ORPHA:210548
HP:0012243	Abnormal reproductive system morphology	8930	MBD4	OMIM:619975
HP:0012243	Abnormal reproductive system morphology	81857	MED25	ORPHA:464738
HP:0012243	Abnormal reproductive system morphology	2624	GATA2	OMIM:614172
HP:0012243	Abnormal reproductive system morphology	146754	DNAH2	OMIM:619094
HP:0012243	Abnormal reproductive system morphology	1769	DNAH8	OMIM:619095
HP:0012243	Abnormal reproductive system morphology	55779	CFAP44	OMIM:617593
HP:0012243	Abnormal reproductive system morphology	80217	CFAP43	OMIM:617592
HP:0012243	Abnormal reproductive system morphology	255101	CFAP65	OMIM:618664
HP:0012243	Abnormal reproductive system morphology	25981	DNAH1	OMIM:617576
HP:0012243	Abnormal reproductive system morphology	84074	QRICH2	OMIM:618341
HP:0012243	Abnormal reproductive system morphology	10233	LRRC23	OMIM:620848
HP:0012243	Abnormal reproductive system morphology	199223	TTC21A	OMIM:618429
HP:0012243	Abnormal reproductive system morphology	92749	DRC1	OMIM:620222
HP:0012243	Abnormal reproductive system morphology	286464	CFAP47	OMIM:301059
HP:0012243	Abnormal reproductive system morphology	6756	SSX1	OMIM:301099
HP:0012243	Abnormal reproductive system morphology	22873	DZIP1	OMIM:619102
HP:0012243	Abnormal reproductive system morphology	79925	SPEF2	OMIM:618751
HP:0012243	Abnormal reproductive system morphology	144406	CFAP251	OMIM:618152
HP:0012243	Abnormal reproductive system morphology	401024	FSIP2	OMIM:618153
HP:0012243	Abnormal reproductive system morphology	159686	CFAP58	OMIM:619144
HP:0012243	Abnormal reproductive system morphology	26074	CFAP61	OMIM:620409
HP:0012243	Abnormal reproductive system morphology	65975	STK33	OMIM:620849
HP:0012243	Abnormal reproductive system morphology	122481	AK7	OMIM:617965
HP:0012243	Abnormal reproductive system morphology	54014	BRWD1	OMIM:620438
HP:0012243	Abnormal reproductive system morphology	57728	WDR19	OMIM:619867
HP:0012243	Abnormal reproductive system morphology	57639	CCDC146	OMIM:620850
HP:0012243	Abnormal reproductive system morphology	10566	AKAP3	OMIM:620353
HP:0012243	Abnormal reproductive system morphology	56171	DNAH7	OMIM:620356
HP:0012243	Abnormal reproductive system morphology	85452	CFAP74	OMIM:620197
HP:0012243	Abnormal reproductive system morphology	157855	KCNU1	OMIM:620196
HP:0012243	Abnormal reproductive system morphology	80726	IQCN	OMIM:620170
HP:0012243	Abnormal reproductive system morphology	83894	TTC29	OMIM:618745
HP:0012243	Abnormal reproductive system morphology	79846	CFAP69	OMIM:617959
HP:0012243	Abnormal reproductive system morphology	284382	ACTL9	OMIM:619258
HP:0012243	Abnormal reproductive system morphology	8632	DNAH17	OMIM:618643
HP:0012243	Abnormal reproductive system morphology	118491	CFAP70	OMIM:618670
HP:0012243	Abnormal reproductive system morphology	5970	RELA	OMIM:618287
HP:0012243	Abnormal reproductive system morphology	9075	CLDN2	OMIM:301060
HP:0012243	Abnormal reproductive system morphology	402381	SOHLH1	OMIM:618115
HP:0012243	Abnormal reproductive system morphology	64518	TEKT3	OMIM:620277
HP:0012243	Abnormal reproductive system morphology	7802	DNALI1	OMIM:620354
HP:0012243	Abnormal reproductive system morphology	4292	MLH1	OMIM:158320
HP:0012243	Abnormal reproductive system morphology	4292	MLH1	ORPHA:144
HP:0012243	Abnormal reproductive system morphology	4436	MSH2	OMIM:158320
HP:0012243	Abnormal reproductive system morphology	4436	MSH2	ORPHA:144
HP:0012243	Abnormal reproductive system morphology	54894	RNF43	ORPHA:157798
HP:0012243	Abnormal reproductive system morphology	4072	EPCAM	ORPHA:144
HP:0012243	Abnormal reproductive system morphology	5395	PMS2	ORPHA:144
HP:0012243	Abnormal reproductive system morphology	5395	PMS2	OMIM:614337
HP:0012243	Abnormal reproductive system morphology	7048	TGFBR2	ORPHA:144
HP:0012243	Abnormal reproductive system morphology	2956	MSH6	ORPHA:144
HP:0012243	Abnormal reproductive system morphology	2956	MSH6	OMIM:614350
HP:0012243	Abnormal reproductive system morphology	5378	PMS1	ORPHA:144
HP:0012243	Abnormal reproductive system morphology	80326	WNT10A	ORPHA:50944
HP:0012243	Abnormal reproductive system morphology	64218	SEMA4A	ORPHA:440437
HP:0012243	Abnormal reproductive system morphology	6224	RPS20	ORPHA:440437
HP:0012243	Abnormal reproductive system morphology	4595	MUTYH	ORPHA:440437
HP:0012243	Abnormal reproductive system morphology	2304	FOXE1	OMIM:616534
HP:0012243	Abnormal reproductive system morphology	65998	ZFTA	ORPHA:251636
HP:0012243	Abnormal reproductive system morphology	3418	IDH2	ORPHA:163634
HP:0012243	Abnormal reproductive system morphology	3417	IDH1	ORPHA:163634
HP:0012243	Abnormal reproductive system morphology	161742	SPRED1	ORPHA:137605
HP:0012243	Abnormal reproductive system morphology	9817	KEAP1	ORPHA:276399
HP:0012243	Abnormal reproductive system morphology	23405	DICER1	ORPHA:276399
HP:0012243	Abnormal reproductive system morphology	79827	CLMP	ORPHA:2301
HP:0012243	Abnormal reproductive system morphology	2767	GNA11	ORPHA:1556
HP:0012243	Abnormal reproductive system morphology	151188	ARL6IP6	ORPHA:1556
HP:0012243	Abnormal reproductive system morphology	2271	FH	ORPHA:523
HP:0012243	Abnormal reproductive system morphology	7046	TGFBR1	ORPHA:60030
HP:0012243	Abnormal reproductive system morphology	10526	IPO8	ORPHA:60030
HP:0012243	Abnormal reproductive system morphology	7042	TGFB2	ORPHA:60030
HP:0012243	Abnormal reproductive system morphology	7043	TGFB3	ORPHA:60030
HP:0012243	Abnormal reproductive system morphology	4087	SMAD2	ORPHA:60030
HP:0012243	Abnormal reproductive system morphology	7132	TNFRSF1A	ORPHA:32960
HP:0012243	Abnormal reproductive system morphology	2202	EFEMP1	OMIM:620780
HP:0012243	Abnormal reproductive system morphology	49	ACR	OMIM:620500
HP:0012244	Abnormal sex determination	1528	CYB5A	ORPHA:90796
HP:0012244	Abnormal sex determination	1586	CYP17A1	ORPHA:90796
HP:0012244	Abnormal sex determination	1583	CYP11A1	ORPHA:289548
HP:0012244	Abnormal sex determination	1583	CYP11A1	ORPHA:168558
HP:0012244	Abnormal sex determination	6662	SOX9	ORPHA:251510
HP:0012244	Abnormal sex determination	6845	VAMP7	ORPHA:251510
HP:0012244	Abnormal sex determination	51741	WWOX	ORPHA:251510
HP:0012244	Abnormal sex determination	4214	MAP3K1	ORPHA:251510
HP:0012244	Abnormal sex determination	2516	NR5A1	ORPHA:251510
HP:0012244	Abnormal sex determination	7490	WT1	ORPHA:251510
HP:0012244	Abnormal sex determination	57647	DHX37	ORPHA:251510
HP:0012244	Abnormal sex determination	6736	SRY	ORPHA:251510
HP:0012244	Abnormal sex determination	23414	ZFPM2	ORPHA:251510
HP:0012244	Abnormal sex determination	190	NR0B1	ORPHA:251510
HP:0012244	Abnormal sex determination	2626	GATA4	ORPHA:251510
HP:0012244	Abnormal sex determination	84733	CBX2	OMIM:613080
HP:0012244	Abnormal sex determination	284654	RSPO1	ORPHA:85112
HP:0012244	Abnormal sex determination	1109	AKR1C4	OMIM:614279
HP:0012244	Abnormal sex determination	1646	AKR1C2	OMIM:614279
HP:0012244	Abnormal sex determination	54361	WNT4	ORPHA:139466
HP:0012244	Abnormal sex determination	54361	WNT4	OMIM:611812
HP:0012244	Abnormal sex determination	22858	CILK1	OMIM:612651
HP:0012244	Abnormal sex determination	50846	DHH	OMIM:233420
HP:0012245	Sex reversal	1583	CYP11A1	ORPHA:289548
HP:0012245	Sex reversal	1583	CYP11A1	ORPHA:168558
HP:0012245	Sex reversal	1583	CYP11A1	OMIM:613743
HP:0012245	Sex reversal	84733	CBX2	OMIM:613080
HP:0012245	Sex reversal	190	NR0B1	OMIM:300018
HP:0012245	Sex reversal	284654	RSPO1	ORPHA:85112
HP:0012245	Sex reversal	23414	ZFPM2	OMIM:616067
HP:0012245	Sex reversal	6662	SOX9	OMIM:616425
HP:0012245	Sex reversal	6662	SOX9	OMIM:278850
HP:0012245	Sex reversal	6662	SOX9	OMIM:114290
HP:0012245	Sex reversal	1109	AKR1C4	OMIM:614279
HP:0012245	Sex reversal	1646	AKR1C2	OMIM:614279
HP:0012245	Sex reversal	54361	WNT4	ORPHA:139466
HP:0012245	Sex reversal	54361	WNT4	OMIM:611812
HP:0012245	Sex reversal	4214	MAP3K1	OMIM:613762
HP:0012245	Sex reversal	22858	CILK1	OMIM:612651
HP:0012245	Sex reversal	2516	NR5A1	OMIM:612965
HP:0012245	Sex reversal	6736	SRY	OMIM:400044
HP:0012245	Sex reversal	6736	SRY	OMIM:400045
HP:0012245	Sex reversal	50846	DHH	OMIM:233420
HP:0012246	Oculomotor nerve palsy	57167	SALL4	ORPHA:233
HP:0012246	Oculomotor nerve palsy	9935	MAFB	ORPHA:233
HP:0012246	Oculomotor nerve palsy	1123	CHN1	ORPHA:233
HP:0012246	Oculomotor nerve palsy	5339	PLEC	ORPHA:257
HP:0012246	Oculomotor nerve palsy	64072	CDH23	ORPHA:91347
HP:0012246	Oculomotor nerve palsy	64072	CDH23	ORPHA:2965
HP:0012246	Oculomotor nerve palsy	59341	TRPV4	OMIM:606071
HP:0012246	Oculomotor nerve palsy	4221	MEN1	ORPHA:2965
HP:0012246	Oculomotor nerve palsy	9049	AIP	ORPHA:2965
HP:0012246	Oculomotor nerve palsy	8314	BAP1	ORPHA:2495
HP:0012246	Oculomotor nerve palsy	4771	NF2	ORPHA:2495
HP:0012246	Oculomotor nerve palsy	6598	SMARCB1	ORPHA:2495
HP:0012246	Oculomotor nerve palsy	5155	PDGFB	ORPHA:2495
HP:0012246	Oculomotor nerve palsy	84231	TRAF7	ORPHA:2495
HP:0012246	Oculomotor nerve palsy	6608	SMO	ORPHA:2495
HP:0012246	Oculomotor nerve palsy	207	AKT1	ORPHA:2495
HP:0012246	Oculomotor nerve palsy	5290	PIK3CA	ORPHA:2495
HP:0012246	Oculomotor nerve palsy	5290	PIK3CA	ORPHA:99802
HP:0012246	Oculomotor nerve palsy	7015	TERT	ORPHA:2495
HP:0012246	Oculomotor nerve palsy	51684	SUFU	ORPHA:2495
HP:0012246	Oculomotor nerve palsy	6605	SMARCE1	ORPHA:2495
HP:0012246	Oculomotor nerve palsy	2475	MTOR	ORPHA:99802
HP:0012246	Oculomotor nerve palsy	10000	AKT3	ORPHA:99802
HP:0012246	Oculomotor nerve palsy	54658	UGT1A1	ORPHA:79234
HP:0012246	Oculomotor nerve palsy	389827	MYMK	OMIM:254940
HP:0012246	Oculomotor nerve palsy	51816	ADA2	ORPHA:820
HP:0012246	Oculomotor nerve palsy	55901	THSD1	ORPHA:231160
HP:0012246	Oculomotor nerve palsy	7049	TGFBR3	ORPHA:231160
HP:0012246	Oculomotor nerve palsy	1281	COL3A1	ORPHA:231160
HP:0012246	Oculomotor nerve palsy	83854	ANGPTL6	ORPHA:231160
HP:0012246	Oculomotor nerve palsy	2022	ENG	ORPHA:231160
HP:0012248	Prolonged PR interval	6327	SCN2B	OMIM:615378
HP:0012248	Prolonged PR interval	6331	SCN5A	OMIM:113900
HP:0012248	Prolonged PR interval	10681	GNB5	ORPHA:542306
HP:0012248	Prolonged PR interval	23171	GPD1L	OMIM:611777
HP:0012248	Prolonged PR interval	1482	NKX2-5	OMIM:108900
HP:0012248	Prolonged PR interval	1188	CLCNKB	ORPHA:358
HP:0012248	Prolonged PR interval	6559	SLC12A3	ORPHA:358
HP:0012248	Prolonged PR interval	1829	DSG2	OMIM:610193
HP:0012248	Prolonged PR interval	7092	TLL1	ORPHA:99106
HP:0012248	Prolonged PR interval	3741	KCNA5	OMIM:612240
HP:0012249	Abnormal ST segment	7139	TNNT2	OMIM:612422
HP:0012249	Abnormal ST segment	5894	RAF1	OMIM:615916
HP:0012249	Abnormal ST segment	7134	TNNC1	OMIM:613243
HP:0012249	Abnormal ST segment	7092	TLL1	ORPHA:99103
HP:0012249	Abnormal ST segment	57057	TBX20	ORPHA:99103
HP:0012249	Abnormal ST segment	4624	MYH6	ORPHA:99103
HP:0012249	Abnormal ST segment	1482	NKX2-5	ORPHA:99103
HP:0012249	Abnormal ST segment	70	ACTC1	ORPHA:99103
HP:0012249	Abnormal ST segment	10370	CITED2	ORPHA:99103
HP:0012249	Abnormal ST segment	2626	GATA4	ORPHA:99103
HP:0012249	Abnormal ST segment	2627	GATA6	ORPHA:99103
HP:0012249	Abnormal ST segment	51422	PRKAG2	OMIM:261740
HP:0012249	Abnormal ST segment	6261	RYR1	ORPHA:466650
HP:0012249	Abnormal ST segment	1188	CLCNKB	ORPHA:358
HP:0012249	Abnormal ST segment	6559	SLC12A3	ORPHA:358
HP:0012249	Abnormal ST segment	23630	KCNE5	ORPHA:130
HP:0012249	Abnormal ST segment	10371	SEMA3A	ORPHA:130
HP:0012249	Abnormal ST segment	54795	TRPM4	ORPHA:130
HP:0012249	Abnormal ST segment	10021	HCN4	ORPHA:130
HP:0012249	Abnormal ST segment	10021	HCN4	OMIM:613123
HP:0012249	Abnormal ST segment	3764	KCNJ8	ORPHA:130
HP:0012249	Abnormal ST segment	3752	KCND3	ORPHA:130
HP:0012249	Abnormal ST segment	3752	KCND3	OMIM:616399
HP:0012249	Abnormal ST segment	5318	PKP2	ORPHA:130
HP:0012249	Abnormal ST segment	7871	SLMAP	ORPHA:130
HP:0012249	Abnormal ST segment	10060	ABCC9	ORPHA:130
HP:0012249	Abnormal ST segment	29098	RANGRF	ORPHA:130
HP:0012249	Abnormal ST segment	6336	SCN10A	ORPHA:130
HP:0012249	Abnormal ST segment	10008	KCNE3	ORPHA:130
HP:0012249	Abnormal ST segment	10008	KCNE3	OMIM:613119
HP:0012249	Abnormal ST segment	55800	SCN3B	ORPHA:130
HP:0012249	Abnormal ST segment	55800	SCN3B	OMIM:613120
HP:0012249	Abnormal ST segment	10142	AKAP9	ORPHA:130
HP:0012249	Abnormal ST segment	783	CACNB2	ORPHA:130
HP:0012249	Abnormal ST segment	6337	SCNN1A	ORPHA:130
HP:0012249	Abnormal ST segment	6327	SCN2B	ORPHA:130
HP:0012249	Abnormal ST segment	6327	SCN2B	OMIM:615378
HP:0012249	Abnormal ST segment	781	CACNA2D1	ORPHA:130
HP:0012249	Abnormal ST segment	775	CACNA1C	ORPHA:130
HP:0012249	Abnormal ST segment	6324	SCN1B	ORPHA:130
HP:0012249	Abnormal ST segment	6324	SCN1B	OMIM:612838
HP:0012249	Abnormal ST segment	6331	SCN5A	ORPHA:130
HP:0012249	Abnormal ST segment	23171	GPD1L	ORPHA:130
HP:0012249	Abnormal ST segment	2992	GYG1	ORPHA:263297
HP:0012249	Abnormal ST segment	2992	GYG1	OMIM:613507
HP:0012249	Abnormal ST segment	5428	POLG	ORPHA:94125
HP:0012240	Increased intramyocellular lipid droplets	1339	COX6A2	OMIM:619062
HP:0012240	Increased intramyocellular lipid droplets	6329	SCN4A	ORPHA:681
HP:0012240	Increased intramyocellular lipid droplets	779	CACNA1S	ORPHA:681
HP:0012240	Increased intramyocellular lipid droplets	779	CACNA1S	ORPHA:79102
HP:0012240	Increased intramyocellular lipid droplets	10008	KCNE3	ORPHA:681
HP:0012240	Increased intramyocellular lipid droplets	4697	NDUFA4	OMIM:619065
HP:0012240	Increased intramyocellular lipid droplets	4574	MT-TS1	OMIM:220110
HP:0012240	Increased intramyocellular lipid droplets	4570	MT-TN	OMIM:220110
HP:0012240	Increased intramyocellular lipid droplets	6834	SURF1	OMIM:220110
HP:0012240	Increased intramyocellular lipid droplets	8802	SUCLG1	ORPHA:17
HP:0012240	Increased intramyocellular lipid droplets	51099	ABHD5	ORPHA:98907
HP:0012240	Increased intramyocellular lipid droplets	4285	MIPEP	OMIM:617228
HP:0012240	Increased intramyocellular lipid droplets	4724	NDUFS4	OMIM:252010
HP:0012240	Increased intramyocellular lipid droplets	57104	PNPLA2	ORPHA:98908
HP:0012240	Increased intramyocellular lipid droplets	10939	AFG3L2	OMIM:614487
HP:0012240	Increased intramyocellular lipid droplets	400916	CHCHD10	ORPHA:457050
HP:0012240	Increased intramyocellular lipid droplets	56997	COQ8A	OMIM:612016
HP:0012240	Increased intramyocellular lipid droplets	55154	MSTO1	ORPHA:502423
HP:0012240	Increased intramyocellular lipid droplets	3156	HMGCR	OMIM:620375
HP:0012240	Increased intramyocellular lipid droplets	100134444	KCNJ18	ORPHA:79102
HP:0012240	Increased intramyocellular lipid droplets	2556	GABRA3	ORPHA:79102
HP:0012240	Increased intramyocellular lipid droplets	246329	STAC3	OMIM:255995
HP:0012240	Increased intramyocellular lipid droplets	23479	ISCU	OMIM:255125
HP:0012240	Increased intramyocellular lipid droplets	6389	SDHA	OMIM:252011
HP:0012241	Levator palpebrae superioris atrophy	55605	KIF21A	ORPHA:45358
HP:0012241	Levator palpebrae superioris atrophy	55605	KIF21A	OMIM:135700
HP:0012241	Levator palpebrae superioris atrophy	347733	TUBB2B	ORPHA:45358
HP:0012241	Levator palpebrae superioris atrophy	7846	TUBA1A	ORPHA:45358
HP:0012241	Levator palpebrae superioris atrophy	401	PHOX2A	ORPHA:45358
HP:0012241	Levator palpebrae superioris atrophy	10381	TUBB3	ORPHA:45358
HP:0012241	Levator palpebrae superioris atrophy	10381	TUBB3	OMIM:600638
HP:0012241	Levator palpebrae superioris atrophy	84570	COL25A1	ORPHA:45358
HP:0033080	Abnormal TSH response to thyrotrophin-releasing hormone stimulation test	1363	CPE	OMIM:619326
HP:0033080	Abnormal TSH response to thyrotrophin-releasing hormone stimulation test	5449	POU1F1	OMIM:613038
HP:0033080	Abnormal TSH response to thyrotrophin-releasing hormone stimulation test	3547	IGSF1	OMIM:300888
HP:0033080	Abnormal TSH response to thyrotrophin-releasing hormone stimulation test	7201	TRHR	OMIM:618573
HP:0033082	Reduced TSH response to thyrotrophin-releasing hormone stimulation test	1363	CPE	OMIM:619326
HP:0033082	Reduced TSH response to thyrotrophin-releasing hormone stimulation test	5449	POU1F1	OMIM:613038
HP:0033082	Reduced TSH response to thyrotrophin-releasing hormone stimulation test	3547	IGSF1	OMIM:300888
HP:0033082	Reduced TSH response to thyrotrophin-releasing hormone stimulation test	7201	TRHR	OMIM:618573
HP:0033083	Increased circulating farnesol concentration	2222	FDFT1	OMIM:618156
HP:0033084	Abnormal antral follicle count	646	BNC1	OMIM:618723
HP:0033084	Abnormal antral follicle count	254528	MEIOB	OMIM:620686
HP:0033084	Abnormal antral follicle count	221711	SYCP2L	OMIM:620840
HP:0033084	Abnormal antral follicle count	135935	NOBOX	OMIM:611548
HP:0033085	Reduced antral follicle count	646	BNC1	OMIM:618723
HP:0033085	Reduced antral follicle count	254528	MEIOB	OMIM:620686
HP:0033085	Reduced antral follicle count	221711	SYCP2L	OMIM:620840
HP:0033085	Reduced antral follicle count	135935	NOBOX	OMIM:611548
HP:0033087	Quotidian fever	144811	LACC1	OMIM:618795
HP:0012250	ST segment depression	7134	TNNC1	OMIM:613243
HP:0012250	ST segment depression	7092	TLL1	ORPHA:99103
HP:0012250	ST segment depression	57057	TBX20	ORPHA:99103
HP:0012250	ST segment depression	4624	MYH6	ORPHA:99103
HP:0012250	ST segment depression	1482	NKX2-5	ORPHA:99103
HP:0012250	ST segment depression	70	ACTC1	ORPHA:99103
HP:0012250	ST segment depression	10370	CITED2	ORPHA:99103
HP:0012250	ST segment depression	2626	GATA4	ORPHA:99103
HP:0012250	ST segment depression	2627	GATA6	ORPHA:99103
HP:0012250	ST segment depression	51422	PRKAG2	OMIM:261740
HP:0012250	ST segment depression	6261	RYR1	ORPHA:466650
HP:0012250	ST segment depression	1188	CLCNKB	ORPHA:358
HP:0012250	ST segment depression	6559	SLC12A3	ORPHA:358
HP:0012253	Abnormal respiratory epithelium morphology	51314	NME8	OMIM:610852
HP:0012253	Abnormal respiratory epithelium morphology	55172	DNAAF2	OMIM:612518
HP:0012253	Abnormal respiratory epithelium morphology	388389	DNAAF19	OMIM:614679
HP:0012253	Abnormal respiratory epithelium morphology	6674	SPAG1	OMIM:615505
HP:0012253	Abnormal respiratory epithelium morphology	27019	DNAI1	OMIM:244400
HP:0012253	Abnormal respiratory epithelium morphology	56683	CFAP298	OMIM:615500
HP:0012253	Abnormal respiratory epithelium morphology	54919	DNAAF5	OMIM:614874
HP:0012253	Abnormal respiratory epithelium morphology	115948	ODAD3	OMIM:616037
HP:0012253	Abnormal respiratory epithelium morphology	64446	DNAI2	OMIM:612444
HP:0012253	Abnormal respiratory epithelium morphology	83544	DNAL1	OMIM:614017
HP:0012253	Abnormal respiratory epithelium morphology	1770	DNAH9	OMIM:618300
HP:0012253	Abnormal respiratory epithelium morphology	123872	DNAAF1	OMIM:613193
HP:0012253	Abnormal respiratory epithelium morphology	93233	ODAD1	OMIM:615067
HP:0012253	Abnormal respiratory epithelium morphology	56171	DNAH7	OMIM:620356
HP:0012253	Abnormal respiratory epithelium morphology	8701	DNAH11	OMIM:611884
HP:0012253	Abnormal respiratory epithelium morphology	84071	ARMC2	OMIM:618433
HP:0012253	Abnormal respiratory epithelium morphology	55036	CCDC40	OMIM:613808
HP:0012253	Abnormal respiratory epithelium morphology	339829	CCDC39	OMIM:613807
HP:0012253	Abnormal respiratory epithelium morphology	51364	ZMYND10	OMIM:615444
HP:0012253	Abnormal respiratory epithelium morphology	85016	CFAP300	OMIM:618063
HP:0012253	Abnormal respiratory epithelium morphology	54970	TTC12	OMIM:618801
HP:0012253	Abnormal respiratory epithelium morphology	352909	DNAAF3	OMIM:606763
HP:0012253	Abnormal respiratory epithelium morphology	23639	DNAAF11	OMIM:614935
HP:0012253	Abnormal respiratory epithelium morphology	221421	RSPH9	OMIM:612650
HP:0012253	Abnormal respiratory epithelium morphology	345895	RSPH4A	OMIM:612649
HP:0012253	Abnormal respiratory epithelium morphology	374407	DNAJB13	OMIM:617091
HP:0012253	Abnormal respiratory epithelium morphology	8382	NME5	OMIM:620032
HP:0012253	Abnormal respiratory epithelium morphology	83861	RSPH3	OMIM:616481
HP:0012254	Ewing sarcoma	5925	RB1	OMIM:180200
HP:0012254	Ewing sarcoma	2130	EWSR1	OMIM:612219
HP:0012254	Ewing sarcoma	23476	BRD4	ORPHA:443167
HP:0012254	Ewing sarcoma	256646	NUTM1	ORPHA:443167
HP:0012255	Dynein arm defect of respiratory motile cilia	388389	DNAAF19	OMIM:614679
HP:0012255	Dynein arm defect of respiratory motile cilia	6674	SPAG1	OMIM:615505
HP:0012255	Dynein arm defect of respiratory motile cilia	27019	DNAI1	OMIM:244400
HP:0012255	Dynein arm defect of respiratory motile cilia	56683	CFAP298	OMIM:615500
HP:0012255	Dynein arm defect of respiratory motile cilia	54919	DNAAF5	OMIM:614874
HP:0012255	Dynein arm defect of respiratory motile cilia	115948	ODAD3	OMIM:616037
HP:0012255	Dynein arm defect of respiratory motile cilia	64446	DNAI2	OMIM:612444
HP:0012255	Dynein arm defect of respiratory motile cilia	83544	DNAL1	OMIM:614017
HP:0012255	Dynein arm defect of respiratory motile cilia	1770	DNAH9	OMIM:618300
HP:0012255	Dynein arm defect of respiratory motile cilia	123872	DNAAF1	OMIM:613193
HP:0012255	Dynein arm defect of respiratory motile cilia	93233	ODAD1	OMIM:615067
HP:0012255	Dynein arm defect of respiratory motile cilia	56171	DNAH7	OMIM:620356
HP:0012255	Dynein arm defect of respiratory motile cilia	339829	CCDC39	OMIM:613807
HP:0012255	Dynein arm defect of respiratory motile cilia	51364	ZMYND10	OMIM:615444
HP:0012255	Dynein arm defect of respiratory motile cilia	85016	CFAP300	OMIM:618063
HP:0012255	Dynein arm defect of respiratory motile cilia	54970	TTC12	OMIM:618801
HP:0012255	Dynein arm defect of respiratory motile cilia	352909	DNAAF3	OMIM:606763
HP:0012255	Dynein arm defect of respiratory motile cilia	23639	DNAAF11	OMIM:614935
HP:0012255	Dynein arm defect of respiratory motile cilia	51314	NME8	OMIM:610852
HP:0012256	Absent outer dynein arms	27019	DNAI1	OMIM:244400
HP:0012256	Absent outer dynein arms	56683	CFAP298	OMIM:615500
HP:0012256	Absent outer dynein arms	54919	DNAAF5	OMIM:614874
HP:0012256	Absent outer dynein arms	115948	ODAD3	OMIM:616037
HP:0012256	Absent outer dynein arms	64446	DNAI2	OMIM:612444
HP:0012256	Absent outer dynein arms	83544	DNAL1	OMIM:614017
HP:0012256	Absent outer dynein arms	1770	DNAH9	OMIM:618300
HP:0012256	Absent outer dynein arms	123872	DNAAF1	OMIM:613193
HP:0012256	Absent outer dynein arms	93233	ODAD1	OMIM:615067
HP:0012256	Absent outer dynein arms	51364	ZMYND10	OMIM:615444
HP:0012256	Absent outer dynein arms	85016	CFAP300	OMIM:618063
HP:0012256	Absent outer dynein arms	54970	TTC12	OMIM:618801
HP:0012256	Absent outer dynein arms	352909	DNAAF3	OMIM:606763
HP:0012256	Absent outer dynein arms	23639	DNAAF11	OMIM:614935
HP:0012257	Absent inner dynein arms	54919	DNAAF5	OMIM:614874
HP:0012257	Absent inner dynein arms	56171	DNAH7	OMIM:620356
HP:0012257	Absent inner dynein arms	123872	DNAAF1	OMIM:613193
HP:0012257	Absent inner dynein arms	339829	CCDC39	OMIM:613807
HP:0012257	Absent inner dynein arms	51364	ZMYND10	OMIM:615444
HP:0012257	Absent inner dynein arms	85016	CFAP300	OMIM:618063
HP:0012257	Absent inner dynein arms	54970	TTC12	OMIM:618801
HP:0012257	Absent inner dynein arms	352909	DNAAF3	OMIM:606763
HP:0012257	Absent inner dynein arms	23639	DNAAF11	OMIM:614935
HP:0012258	Abnormal axonemal organization of respiratory motile cilia	8701	DNAH11	OMIM:611884
HP:0012258	Abnormal axonemal organization of respiratory motile cilia	84071	ARMC2	OMIM:618433
HP:0012258	Abnormal axonemal organization of respiratory motile cilia	55036	CCDC40	OMIM:613808
HP:0012258	Abnormal axonemal organization of respiratory motile cilia	339829	CCDC39	OMIM:613807
HP:0012259	Absent inner and outer dynein arms	51364	ZMYND10	OMIM:615444
HP:0012259	Absent inner and outer dynein arms	85016	CFAP300	OMIM:618063
HP:0012259	Absent inner and outer dynein arms	54970	TTC12	OMIM:618801
HP:0012259	Absent inner and outer dynein arms	352909	DNAAF3	OMIM:606763
HP:0012259	Absent inner and outer dynein arms	23639	DNAAF11	OMIM:614935
HP:0012251	ST segment elevation	23630	KCNE5	ORPHA:130
HP:0012251	ST segment elevation	10371	SEMA3A	ORPHA:130
HP:0012251	ST segment elevation	54795	TRPM4	ORPHA:130
HP:0012251	ST segment elevation	10021	HCN4	ORPHA:130
HP:0012251	ST segment elevation	10021	HCN4	OMIM:613123
HP:0012251	ST segment elevation	3764	KCNJ8	ORPHA:130
HP:0012251	ST segment elevation	3752	KCND3	ORPHA:130
HP:0012251	ST segment elevation	3752	KCND3	OMIM:616399
HP:0012251	ST segment elevation	5318	PKP2	ORPHA:130
HP:0012251	ST segment elevation	7871	SLMAP	ORPHA:130
HP:0012251	ST segment elevation	10060	ABCC9	ORPHA:130
HP:0012251	ST segment elevation	29098	RANGRF	ORPHA:130
HP:0012251	ST segment elevation	6336	SCN10A	ORPHA:130
HP:0012251	ST segment elevation	10008	KCNE3	ORPHA:130
HP:0012251	ST segment elevation	10008	KCNE3	OMIM:613119
HP:0012251	ST segment elevation	55800	SCN3B	ORPHA:130
HP:0012251	ST segment elevation	55800	SCN3B	OMIM:613120
HP:0012251	ST segment elevation	10142	AKAP9	ORPHA:130
HP:0012251	ST segment elevation	783	CACNB2	ORPHA:130
HP:0012251	ST segment elevation	6337	SCNN1A	ORPHA:130
HP:0012251	ST segment elevation	6327	SCN2B	ORPHA:130
HP:0012251	ST segment elevation	6327	SCN2B	OMIM:615378
HP:0012251	ST segment elevation	781	CACNA2D1	ORPHA:130
HP:0012251	ST segment elevation	775	CACNA1C	ORPHA:130
HP:0012251	ST segment elevation	6324	SCN1B	ORPHA:130
HP:0012251	ST segment elevation	6324	SCN1B	OMIM:612838
HP:0012251	ST segment elevation	6331	SCN5A	ORPHA:130
HP:0012251	ST segment elevation	23171	GPD1L	ORPHA:130
HP:0012251	ST segment elevation	51422	PRKAG2	OMIM:261740
HP:0012251	ST segment elevation	2992	GYG1	ORPHA:263297
HP:0012251	ST segment elevation	2992	GYG1	OMIM:613507
HP:0012251	ST segment elevation	5428	POLG	ORPHA:94125
HP:0012252	Abnormal respiratory system morphology	100	ADA	ORPHA:277
HP:0012252	Abnormal respiratory system morphology	100	ADA	OMIM:102700
HP:0012252	Abnormal respiratory system morphology	1789	DNMT3B	OMIM:242860
HP:0012252	Abnormal respiratory system morphology	4683	NBN	OMIM:251260
HP:0012252	Abnormal respiratory system morphology	2332	FMR1	ORPHA:908
HP:0012252	Abnormal respiratory system morphology	4860	PNP	OMIM:613179
HP:0012252	Abnormal respiratory system morphology	3659	IRF1	OMIM:620668
HP:0012252	Abnormal respiratory system morphology	7454	WAS	ORPHA:906
HP:0012252	Abnormal respiratory system morphology	7456	WIPF1	ORPHA:906
HP:0012252	Abnormal respiratory system morphology	3561	IL2RG	OMIM:312863
HP:0012252	Abnormal respiratory system morphology	472	ATM	OMIM:208900
HP:0012252	Abnormal respiratory system morphology	8456	FOXN1	ORPHA:83471
HP:0012252	Abnormal respiratory system morphology	1535	CYBA	ORPHA:379
HP:0012252	Abnormal respiratory system morphology	4689	NCF4	ORPHA:379
HP:0012252	Abnormal respiratory system morphology	653361	NCF1	ORPHA:379
HP:0012252	Abnormal respiratory system morphology	79415	CYBC1	ORPHA:379
HP:0012252	Abnormal respiratory system morphology	134218	DNAJC21	ORPHA:811
HP:0012252	Abnormal respiratory system morphology	79631	EFL1	ORPHA:811
HP:0012252	Abnormal respiratory system morphology	51119	SBDS	ORPHA:811
HP:0012252	Abnormal respiratory system morphology	5994	RFXAP	ORPHA:572
HP:0012252	Abnormal respiratory system morphology	4261	CIITA	ORPHA:572
HP:0012252	Abnormal respiratory system morphology	5993	RFX5	ORPHA:572
HP:0012252	Abnormal respiratory system morphology	8625	RFXANK	ORPHA:572
HP:0012252	Abnormal respiratory system morphology	5692	PSMB4	OMIM:617591
HP:0012252	Abnormal respiratory system morphology	3394	IRF8	OMIM:226990
HP:0012252	Abnormal respiratory system morphology	860	RUNX2	ORPHA:1452
HP:0012252	Abnormal respiratory system morphology	3321	IGSF3	OMIM:149700
HP:0012252	Abnormal respiratory system morphology	6929	TCF3	ORPHA:33110
HP:0012252	Abnormal respiratory system morphology	7922	SLC39A7	ORPHA:33110
HP:0012252	Abnormal respiratory system morphology	973	CD79A	ORPHA:33110
HP:0012252	Abnormal respiratory system morphology	974	CD79B	ORPHA:33110
HP:0012252	Abnormal respiratory system morphology	6688	SPI1	ORPHA:33110
HP:0012252	Abnormal respiratory system morphology	3543	IGLL1	ORPHA:33110
HP:0012252	Abnormal respiratory system morphology	3507	IGHM	ORPHA:33110
HP:0012252	Abnormal respiratory system morphology	29760	BLNK	ORPHA:33110
HP:0012252	Abnormal respiratory system morphology	5295	PIK3R1	ORPHA:33110
HP:0012252	Abnormal respiratory system morphology	56262	LRRC8A	ORPHA:33110
HP:0012252	Abnormal respiratory system morphology	80169	CTC1	ORPHA:1775
HP:0012252	Abnormal respiratory system morphology	26277	TINF2	ORPHA:1775
HP:0012252	Abnormal respiratory system morphology	55651	NHP2	ORPHA:1775
HP:0012252	Abnormal respiratory system morphology	79650	USB1	ORPHA:1775
HP:0012252	Abnormal respiratory system morphology	55135	WRAP53	ORPHA:1775
HP:0012252	Abnormal respiratory system morphology	51750	RTEL1	ORPHA:1775
HP:0012252	Abnormal respiratory system morphology	4869	NPM1	ORPHA:1775
HP:0012252	Abnormal respiratory system morphology	7012	TERC	ORPHA:1775
HP:0012252	Abnormal respiratory system morphology	55505	NOP10	ORPHA:1775
HP:0012252	Abnormal respiratory system morphology	5073	PARN	ORPHA:1775
HP:0012252	Abnormal respiratory system morphology	7015	TERT	ORPHA:1775
HP:0012252	Abnormal respiratory system morphology	1736	DKC1	ORPHA:1775
HP:0012252	Abnormal respiratory system morphology	7298	TYMS	ORPHA:1775
HP:0012252	Abnormal respiratory system morphology	100996717	NOTCH2NLC	ORPHA:2289
HP:0012252	Abnormal respiratory system morphology	6899	TBX1	ORPHA:1727
HP:0012252	Abnormal respiratory system morphology	6899	TBX1	ORPHA:567
HP:0012252	Abnormal respiratory system morphology	1312	COMT	ORPHA:567
HP:0012252	Abnormal respiratory system morphology	221037	JMJD1C	ORPHA:567
HP:0012252	Abnormal respiratory system morphology	2812	GP1BB	ORPHA:567
HP:0012252	Abnormal respiratory system morphology	6239	RREB1	ORPHA:567
HP:0012252	Abnormal respiratory system morphology	7290	HIRA	ORPHA:567
HP:0012252	Abnormal respiratory system morphology	9632	SEC24C	ORPHA:567
HP:0012252	Abnormal respiratory system morphology	7353	UFD1	ORPHA:567
HP:0012252	Abnormal respiratory system morphology	421	ARVCF	ORPHA:567
HP:0012252	Abnormal respiratory system morphology	3339	HSPG2	ORPHA:800
HP:0012252	Abnormal respiratory system morphology	54903	MKS1	OMIM:249000
HP:0012252	Abnormal respiratory system morphology	4750	NEK1	OMIM:263520
HP:0012252	Abnormal respiratory system morphology	1654	DDX3X	ORPHA:3338
HP:0012252	Abnormal respiratory system morphology	1717	DHCR7	ORPHA:818
HP:0012252	Abnormal respiratory system morphology	3852	KRT5	ORPHA:79396
HP:0012252	Abnormal respiratory system morphology	3861	KRT14	ORPHA:79396
HP:0012252	Abnormal respiratory system morphology	63982	ANO3	ORPHA:420485
HP:0012252	Abnormal respiratory system morphology	7473	WNT3	ORPHA:3301
HP:0012252	Abnormal respiratory system morphology	340419	RSPO2	ORPHA:3301
HP:0012252	Abnormal respiratory system morphology	9496	TBX4	ORPHA:3301
HP:0012252	Abnormal respiratory system morphology	9361	LONP1	ORPHA:1458
HP:0012252	Abnormal respiratory system morphology	389827	MYMK	ORPHA:1358
HP:0012252	Abnormal respiratory system morphology	101929726	MYMX	ORPHA:1358
HP:0012252	Abnormal respiratory system morphology	6134	RPL10	OMIM:300998
HP:0012252	Abnormal respiratory system morphology	6134	RPL10	ORPHA:459070
HP:0012252	Abnormal respiratory system morphology	6134	RPL10	ORPHA:435938
HP:0012252	Abnormal respiratory system morphology	104	ADARB1	OMIM:618862
HP:0012252	Abnormal respiratory system morphology	6477	SIAH1	OMIM:619314
HP:0012252	Abnormal respiratory system morphology	6659	SOX4	OMIM:618506
HP:0012252	Abnormal respiratory system morphology	2972	BRF1	OMIM:616202
HP:0012252	Abnormal respiratory system morphology	2972	BRF1	ORPHA:444072
HP:0012252	Abnormal respiratory system morphology	4897	NRCAM	OMIM:619833
HP:0012252	Abnormal respiratory system morphology	23498	HAAO	OMIM:617660
HP:0012252	Abnormal respiratory system morphology	91179	SCARF2	OMIM:600920
HP:0012252	Abnormal respiratory system morphology	3020	H3-3A	OMIM:619720
HP:0012252	Abnormal respiratory system morphology	3021	H3-3B	OMIM:619721
HP:0012252	Abnormal respiratory system morphology	388015	RTL1	ORPHA:254528
HP:0012252	Abnormal respiratory system morphology	388015	RTL1	ORPHA:96334
HP:0012252	Abnormal respiratory system morphology	8788	DLK1	ORPHA:254528
HP:0012252	Abnormal respiratory system morphology	8788	DLK1	ORPHA:96334
HP:0012252	Abnormal respiratory system morphology	55384	MEG3	ORPHA:254528
HP:0012252	Abnormal respiratory system morphology	55384	MEG3	ORPHA:96334
HP:0012252	Abnormal respiratory system morphology	80816	ASXL3	OMIM:615485
HP:0012252	Abnormal respiratory system morphology	89910	UBE3B	OMIM:244450
HP:0012252	Abnormal respiratory system morphology	1841	DTYMK	OMIM:619847
HP:0012252	Abnormal respiratory system morphology	4038	LRP4	ORPHA:3258
HP:0012252	Abnormal respiratory system morphology	324	APC	ORPHA:3258
HP:0012252	Abnormal respiratory system morphology	6926	TBX3	ORPHA:3138
HP:0012252	Abnormal respiratory system morphology	3417	IDH1	ORPHA:99646
HP:0012252	Abnormal respiratory system morphology	4784	NFIX	OMIM:602535
HP:0012252	Abnormal respiratory system morphology	54496	PRMT7	OMIM:617157
HP:0012252	Abnormal respiratory system morphology	54496	PRMT7	ORPHA:464288
HP:0012252	Abnormal respiratory system morphology	25885	POLR1A	OMIM:616462
HP:0012252	Abnormal respiratory system morphology	157680	VPS13B	OMIM:216550
HP:0012252	Abnormal respiratory system morphology	8493	PPM1D	OMIM:617450
HP:0012252	Abnormal respiratory system morphology	91461	PKDCC	OMIM:618821
HP:0012252	Abnormal respiratory system morphology	79753	SNIP1	OMIM:614501
HP:0012252	Abnormal respiratory system morphology	10236	HNRNPR	OMIM:620073
HP:0012252	Abnormal respiratory system morphology	1303	COL12A1	ORPHA:536516
HP:0012252	Abnormal respiratory system morphology	6857	SYT1	ORPHA:522077
HP:0012252	Abnormal respiratory system morphology	51341	ZBTB7A	OMIM:619769
HP:0012252	Abnormal respiratory system morphology	23314	SATB2	ORPHA:576283
HP:0012252	Abnormal respiratory system morphology	2581	GALC	ORPHA:206436
HP:0012252	Abnormal respiratory system morphology	3778	KCNMA1	OMIM:618729
HP:0012252	Abnormal respiratory system morphology	1513	CTSK	ORPHA:763
HP:0012252	Abnormal respiratory system morphology	4212	MEIS2	ORPHA:261190
HP:0012252	Abnormal respiratory system morphology	374654	KIF7	ORPHA:2189
HP:0012252	Abnormal respiratory system morphology	3835	KIF22	ORPHA:93360
HP:0012252	Abnormal respiratory system morphology	55612	FERMT1	ORPHA:2908
HP:0012252	Abnormal respiratory system morphology	10262	SF3B4	OMIM:154400
HP:0012252	Abnormal respiratory system morphology	1062	CENPE	OMIM:616051
HP:0012252	Abnormal respiratory system morphology	6091	ROBO1	OMIM:620305
HP:0012252	Abnormal respiratory system morphology	4796	TONSL	ORPHA:93357
HP:0012252	Abnormal respiratory system morphology	4796	TONSL	OMIM:271510
HP:0012252	Abnormal respiratory system morphology	51199	NIN	ORPHA:319675
HP:0012252	Abnormal respiratory system morphology	2697	GJA1	OMIM:218400
HP:0012252	Abnormal respiratory system morphology	6469	SHH	OMIM:147250
HP:0012252	Abnormal respiratory system morphology	26040	SETBP1	OMIM:269150
HP:0012252	Abnormal respiratory system morphology	57167	SALL4	OMIM:607323
HP:0012252	Abnormal respiratory system morphology	8626	TP63	OMIM:604292
HP:0012252	Abnormal respiratory system morphology	3909	LAMA3	ORPHA:79404
HP:0012252	Abnormal respiratory system morphology	3918	LAMC2	ORPHA:79404
HP:0012252	Abnormal respiratory system morphology	3914	LAMB3	ORPHA:79404
HP:0012252	Abnormal respiratory system morphology	3123	HLA-DRB1	ORPHA:747
HP:0012252	Abnormal respiratory system morphology	695	BTK	ORPHA:47
HP:0012252	Abnormal respiratory system morphology	64220	STRA6	ORPHA:2470
HP:0012252	Abnormal respiratory system morphology	7477	WNT7B	ORPHA:2470
HP:0012252	Abnormal respiratory system morphology	5915	RARB	ORPHA:2470
HP:0012252	Abnormal respiratory system morphology	1593	CYP27A1	ORPHA:909
HP:0012252	Abnormal respiratory system morphology	10682	EBP	ORPHA:35173
HP:0012252	Abnormal respiratory system morphology	4763	NF1	ORPHA:97685
HP:0012252	Abnormal respiratory system morphology	56244	BTNL2	ORPHA:797
HP:0012252	Abnormal respiratory system morphology	8314	BAP1	ORPHA:50251
HP:0012252	Abnormal respiratory system morphology	28981	IFT81	OMIM:617895
HP:0012252	Abnormal respiratory system morphology	23556	PIGN	ORPHA:2059
HP:0012252	Abnormal respiratory system morphology	23556	PIGN	OMIM:614080
HP:0012252	Abnormal respiratory system morphology	8195	MKKS	OMIM:236700
HP:0012252	Abnormal respiratory system morphology	8854	ALDH1A2	OMIM:620025
HP:0012252	Abnormal respiratory system morphology	10992	SF3B2	OMIM:164210
HP:0012252	Abnormal respiratory system morphology	81839	VANGL1	ORPHA:3027
HP:0012252	Abnormal respiratory system morphology	80199	FUZ	ORPHA:3027
HP:0012252	Abnormal respiratory system morphology	1636	ACE	OMIM:267430
HP:0012252	Abnormal respiratory system morphology	183	AGT	OMIM:267430
HP:0012252	Abnormal respiratory system morphology	185	AGTR1	OMIM:267430
HP:0012252	Abnormal respiratory system morphology	5972	REN	OMIM:267430
HP:0012252	Abnormal respiratory system morphology	91754	NEK9	OMIM:617022
HP:0012252	Abnormal respiratory system morphology	4703	NEB	ORPHA:171430
HP:0012252	Abnormal respiratory system morphology	131377	KLHL40	ORPHA:171430
HP:0012252	Abnormal respiratory system morphology	10324	KLHL41	ORPHA:171430
HP:0012252	Abnormal respiratory system morphology	56203	LMOD3	ORPHA:171430
HP:0012252	Abnormal respiratory system morphology	10229	COQ7	OMIM:616733
HP:0012252	Abnormal respiratory system morphology	55784	MCTP2	ORPHA:1596
HP:0012252	Abnormal respiratory system morphology	5189	PEX1	OMIM:214100
HP:0012252	Abnormal respiratory system morphology	56975	FAM20C	OMIM:259775
HP:0012252	Abnormal respiratory system morphology	1146	CHRNG	OMIM:265000
HP:0012252	Abnormal respiratory system morphology	1146	CHRNG	ORPHA:2990
HP:0012252	Abnormal respiratory system morphology	1146	CHRNG	OMIM:253290
HP:0012252	Abnormal respiratory system morphology	51132	RLIM	OMIM:300978
HP:0012252	Abnormal respiratory system morphology	50814	NSDHL	OMIM:308050
HP:0012252	Abnormal respiratory system morphology	51008	ASCC1	OMIM:616867
HP:0012252	Abnormal respiratory system morphology	57211	ADGRG6	OMIM:616503
HP:0012252	Abnormal respiratory system morphology	23414	ZFPM2	ORPHA:2140
HP:0012252	Abnormal respiratory system morphology	3977	LIFR	OMIM:601559
HP:0012252	Abnormal respiratory system morphology	23384	SPECC1L	OMIM:145420
HP:0012252	Abnormal respiratory system morphology	27130	INVS	OMIM:602088
HP:0012252	Abnormal respiratory system morphology	29980	DONSON	OMIM:251230
HP:0012252	Abnormal respiratory system morphology	26227	PHGDH	OMIM:256520
HP:0012252	Abnormal respiratory system morphology	55605	KIF21A	ORPHA:994
HP:0012252	Abnormal respiratory system morphology	4927	NUP88	ORPHA:994
HP:0012252	Abnormal respiratory system morphology	7846	TUBA1A	ORPHA:994
HP:0012252	Abnormal respiratory system morphology	4593	MUSK	ORPHA:994
HP:0012252	Abnormal respiratory system morphology	4593	MUSK	OMIM:208150
HP:0012252	Abnormal respiratory system morphology	285489	DOK7	ORPHA:994
HP:0012252	Abnormal respiratory system morphology	1798	DPAGT1	ORPHA:86309
HP:0012252	Abnormal respiratory system morphology	6608	SMO	OMIM:241800
HP:0012252	Abnormal respiratory system morphology	55165	CEP55	OMIM:236500
HP:0012252	Abnormal respiratory system morphology	4716	NDUFB10	OMIM:619003
HP:0012252	Abnormal respiratory system morphology	8318	CDC45	OMIM:617063
HP:0012252	Abnormal respiratory system morphology	27031	NPHP3	OMIM:208540
HP:0012252	Abnormal respiratory system morphology	27031	NPHP3	ORPHA:3032
HP:0012252	Abnormal respiratory system morphology	163175	LGI4	OMIM:617468
HP:0012252	Abnormal respiratory system morphology	8241	RBM10	ORPHA:2886
HP:0012252	Abnormal respiratory system morphology	63895	PIEZO2	OMIM:248700
HP:0012252	Abnormal respiratory system morphology	342035	GLDN	OMIM:617194
HP:0012252	Abnormal respiratory system morphology	10269	ZMPSTE24	ORPHA:1662
HP:0012252	Abnormal respiratory system morphology	10269	ZMPSTE24	OMIM:275210
HP:0012252	Abnormal respiratory system morphology	10195	ALG3	ORPHA:79321
HP:0012252	Abnormal respiratory system morphology	57505	AARS2	OMIM:614096
HP:0012252	Abnormal respiratory system morphology	1496	CTNNA2	OMIM:618174
HP:0012252	Abnormal respiratory system morphology	1134	CHRNA1	OMIM:253290
HP:0012252	Abnormal respiratory system morphology	1144	CHRND	OMIM:253290
HP:0012252	Abnormal respiratory system morphology	498	ATP5F1A	OMIM:615228
HP:0012252	Abnormal respiratory system morphology	2110	ETFDH	OMIM:231680
HP:0012252	Abnormal respiratory system morphology	2108	ETFA	OMIM:231680
HP:0012252	Abnormal respiratory system morphology	2109	ETFB	OMIM:231680
HP:0012252	Abnormal respiratory system morphology	57190	SELENON	ORPHA:97244
HP:0012252	Abnormal respiratory system morphology	58	ACTA1	ORPHA:97244
HP:0012252	Abnormal respiratory system morphology	23308	ICOSLG	OMIM:620825
HP:0012252	Abnormal respiratory system morphology	987	LRBA	OMIM:614700
HP:0012252	Abnormal respiratory system morphology	411	ARSB	OMIM:253200
HP:0012252	Abnormal respiratory system morphology	6720	SREBF1	OMIM:158310
HP:0012252	Abnormal respiratory system morphology	5897	RAG2	OMIM:601457
HP:0012252	Abnormal respiratory system morphology	5897	RAG2	ORPHA:39041
HP:0012252	Abnormal respiratory system morphology	5897	RAG2	OMIM:603554
HP:0012252	Abnormal respiratory system morphology	3718	JAK3	OMIM:600802
HP:0012252	Abnormal respiratory system morphology	841	CASP8	OMIM:607271
HP:0012252	Abnormal respiratory system morphology	29927	SEC61A1	OMIM:620674
HP:0012252	Abnormal respiratory system morphology	5698	PSMB9	OMIM:620796
HP:0012252	Abnormal respiratory system morphology	2188	FANCF	OMIM:603467
HP:0012252	Abnormal respiratory system morphology	7535	ZAP70	OMIM:269840
HP:0012252	Abnormal respiratory system morphology	7535	ZAP70	ORPHA:911
HP:0012252	Abnormal respiratory system morphology	915	CD3D	ORPHA:169160
HP:0012252	Abnormal respiratory system morphology	916	CD3E	ORPHA:169160
HP:0012252	Abnormal respiratory system morphology	919	CD247	ORPHA:169160
HP:0012252	Abnormal respiratory system morphology	54	ACP5	OMIM:607944
HP:0012252	Abnormal respiratory system morphology	54	ACP5	ORPHA:1855
HP:0012252	Abnormal respiratory system morphology	6445	SGCG	OMIM:253700
HP:0012252	Abnormal respiratory system morphology	4534	MTM1	ORPHA:596
HP:0012252	Abnormal respiratory system morphology	57057	TBX20	ORPHA:99103
HP:0012252	Abnormal respiratory system morphology	4624	MYH6	ORPHA:99103
HP:0012252	Abnormal respiratory system morphology	1482	NKX2-5	ORPHA:99103
HP:0012252	Abnormal respiratory system morphology	70	ACTC1	ORPHA:99103
HP:0012252	Abnormal respiratory system morphology	10370	CITED2	ORPHA:99103
HP:0012252	Abnormal respiratory system morphology	2626	GATA4	ORPHA:99103
HP:0012252	Abnormal respiratory system morphology	2627	GATA6	ORPHA:99103
HP:0012252	Abnormal respiratory system morphology	28962	OSTM1	ORPHA:85179
HP:0012252	Abnormal respiratory system morphology	9841	ZBTB24	OMIM:614069
HP:0012252	Abnormal respiratory system morphology	6023	RMRP	ORPHA:39041
HP:0012252	Abnormal respiratory system morphology	55636	CHD7	ORPHA:39041
HP:0012252	Abnormal respiratory system morphology	3981	LIG4	ORPHA:39041
HP:0012252	Abnormal respiratory system morphology	64421	DCLRE1C	ORPHA:39041
HP:0012252	Abnormal respiratory system morphology	64421	DCLRE1C	OMIM:603554
HP:0012252	Abnormal respiratory system morphology	64421	DCLRE1C	OMIM:602450
HP:0012252	Abnormal respiratory system morphology	3575	IL7R	ORPHA:39041
HP:0012252	Abnormal respiratory system morphology	3575	IL7R	OMIM:608971
HP:0012252	Abnormal respiratory system morphology	11128	POLR3A	OMIM:264090
HP:0012252	Abnormal respiratory system morphology	55343	SLC35C1	OMIM:266265
HP:0012252	Abnormal respiratory system morphology	374879	ZNF699	OMIM:619488
HP:0012252	Abnormal respiratory system morphology	5728	PTEN	ORPHA:397596
HP:0012252	Abnormal respiratory system morphology	5293	PIK3CD	ORPHA:397596
HP:0012252	Abnormal respiratory system morphology	5293	PIK3CD	OMIM:613328
HP:0012252	Abnormal respiratory system morphology	629	CFB	OMIM:615561
HP:0012252	Abnormal respiratory system morphology	2215	FCGR3B	ORPHA:464370
HP:0012252	Abnormal respiratory system morphology	775	CACNA1C	OMIM:601005
HP:0012252	Abnormal respiratory system morphology	5966	REL	OMIM:619652
HP:0012252	Abnormal respiratory system morphology	25836	NIPBL	OMIM:122470
HP:0012252	Abnormal respiratory system morphology	84433	CARD11	OMIM:617638
HP:0012252	Abnormal respiratory system morphology	6261	RYR1	ORPHA:98905
HP:0012252	Abnormal respiratory system morphology	3594	IL12RB1	ORPHA:319552
HP:0012252	Abnormal respiratory system morphology	3514	IGKC	ORPHA:183675
HP:0012252	Abnormal respiratory system morphology	3501	IGHG2	ORPHA:183675
HP:0012252	Abnormal respiratory system morphology	5903	RANBP2	OMIM:608033
HP:0012252	Abnormal respiratory system morphology	10312	TCIRG1	ORPHA:486
HP:0012252	Abnormal respiratory system morphology	6728	SRP19	ORPHA:486
HP:0012252	Abnormal respiratory system morphology	2672	GFI1	ORPHA:486
HP:0012252	Abnormal respiratory system morphology	37	ACADVL	ORPHA:26793
HP:0012252	Abnormal respiratory system morphology	6850	SYK	OMIM:619381
HP:0012252	Abnormal respiratory system morphology	90417	KNSTRN	OMIM:613328
HP:0012252	Abnormal respiratory system morphology	4054	LTBP3	OMIM:617809
HP:0012252	Abnormal respiratory system morphology	81704	DOCK8	ORPHA:217390
HP:0012252	Abnormal respiratory system morphology	10526	IPO8	OMIM:619472
HP:0012252	Abnormal respiratory system morphology	6340	SCNN1G	ORPHA:60033
HP:0012252	Abnormal respiratory system morphology	1080	CFTR	ORPHA:60033
HP:0012252	Abnormal respiratory system morphology	6337	SCNN1A	ORPHA:60033
HP:0012252	Abnormal respiratory system morphology	6338	SCNN1B	ORPHA:60033
HP:0012252	Abnormal respiratory system morphology	399	RHOH	OMIM:618307
HP:0012252	Abnormal respiratory system morphology	8425	LTBP4	OMIM:613177
HP:0012252	Abnormal respiratory system morphology	6890	TAP1	OMIM:604571
HP:0012252	Abnormal respiratory system morphology	5265	SERPINA1	ORPHA:60
HP:0012252	Abnormal respiratory system morphology	10056	FARSB	OMIM:613658
HP:0012252	Abnormal respiratory system morphology	2006	ELN	OMIM:123700
HP:0012252	Abnormal respiratory system morphology	2006	ELN	ORPHA:90348
HP:0012252	Abnormal respiratory system morphology	1776	DNASE1L3	ORPHA:36412
HP:0012252	Abnormal respiratory system morphology	2200	FBN1	ORPHA:284979
HP:0012252	Abnormal respiratory system morphology	2200	FBN1	OMIM:154700
HP:0012252	Abnormal respiratory system morphology	137682	NDUFAF6	OMIM:618913
HP:0012252	Abnormal respiratory system morphology	30008	EFEMP2	OMIM:614437
HP:0012252	Abnormal respiratory system morphology	30008	EFEMP2	ORPHA:90349
HP:0012252	Abnormal respiratory system morphology	7248	TSC1	ORPHA:538
HP:0012252	Abnormal respiratory system morphology	7249	TSC2	ORPHA:538
HP:0012252	Abnormal respiratory system morphology	1281	COL3A1	OMIM:130050
HP:0012252	Abnormal respiratory system morphology	4256	MGP	OMIM:245150
HP:0012252	Abnormal respiratory system morphology	23545	ATP6V0A2	ORPHA:357074
HP:0012252	Abnormal respiratory system morphology	23545	ATP6V0A2	ORPHA:2834
HP:0012252	Abnormal respiratory system morphology	523	ATP6V1A	ORPHA:357074
HP:0012252	Abnormal respiratory system morphology	529	ATP6V1E1	ORPHA:357074
HP:0012252	Abnormal respiratory system morphology	6651	SON	ORPHA:500150
HP:0012252	Abnormal respiratory system morphology	4998	ORC1	OMIM:224690
HP:0012252	Abnormal respiratory system morphology	10516	FBLN5	ORPHA:90348
HP:0012252	Abnormal respiratory system morphology	10516	FBLN5	ORPHA:90349
HP:0012252	Abnormal respiratory system morphology	10516	FBLN5	OMIM:219100
HP:0012252	Abnormal respiratory system morphology	5832	ALDH18A1	ORPHA:90348
HP:0012252	Abnormal respiratory system morphology	4052	LTBP1	ORPHA:90349
HP:0012252	Abnormal respiratory system morphology	92345	NAF1	OMIM:620365
HP:0012252	Abnormal respiratory system morphology	2717	GLA	ORPHA:324
HP:0012252	Abnormal respiratory system morphology	56980	PRDM10	ORPHA:122
HP:0012252	Abnormal respiratory system morphology	201163	FLCN	ORPHA:122
HP:0012252	Abnormal respiratory system morphology	5566	PRKACA	ORPHA:289
HP:0012252	Abnormal respiratory system morphology	5567	PRKACB	ORPHA:289
HP:0012252	Abnormal respiratory system morphology	2735	GLI1	ORPHA:289
HP:0012252	Abnormal respiratory system morphology	2121	EVC	ORPHA:289
HP:0012252	Abnormal respiratory system morphology	51626	DYNC2LI1	ORPHA:289
HP:0012252	Abnormal respiratory system morphology	132884	EVC2	ORPHA:289
HP:0012252	Abnormal respiratory system morphology	4000	LMNA	ORPHA:363618
HP:0012252	Abnormal respiratory system morphology	51053	GMNN	OMIM:616835
HP:0012252	Abnormal respiratory system morphology	23495	TNFRSF13B	ORPHA:1572
HP:0012252	Abnormal respiratory system morphology	4790	NFKB1	ORPHA:1572
HP:0012252	Abnormal respiratory system morphology	4791	NFKB2	ORPHA:1572
HP:0012252	Abnormal respiratory system morphology	115650	TNFRSF13C	ORPHA:1572
HP:0012252	Abnormal respiratory system morphology	1380	CR2	ORPHA:1572
HP:0012252	Abnormal respiratory system morphology	8742	TNFSF12	ORPHA:1572
HP:0012252	Abnormal respiratory system morphology	930	CD19	ORPHA:1572
HP:0012252	Abnormal respiratory system morphology	29851	ICOS	ORPHA:1572
HP:0012252	Abnormal respiratory system morphology	931	MS4A1	ORPHA:1572
HP:0012252	Abnormal respiratory system morphology	975	CD81	ORPHA:1572
HP:0012252	Abnormal respiratory system morphology	359948	IRF2BP2	ORPHA:1572
HP:0012252	Abnormal respiratory system morphology	7042	TGFB2	OMIM:614816
HP:0012252	Abnormal respiratory system morphology	81620	CDT1	OMIM:613804
HP:0012252	Abnormal respiratory system morphology	11005	SPINK5	ORPHA:634
HP:0012252	Abnormal respiratory system morphology	4914	NTRK1	ORPHA:642
HP:0012252	Abnormal respiratory system morphology	535	ATP6V0A1	OMIM:619971
HP:0012252	Abnormal respiratory system morphology	5160	PDHA1	ORPHA:79243
HP:0012252	Abnormal respiratory system morphology	378884	NHLRC1	ORPHA:501
HP:0012252	Abnormal respiratory system morphology	7957	EPM2A	ORPHA:501
HP:0012252	Abnormal respiratory system morphology	3930	LBR	OMIM:215140
HP:0012252	Abnormal respiratory system morphology	2737	GLI3	ORPHA:672
HP:0012252	Abnormal respiratory system morphology	2737	GLI3	OMIM:146510
HP:0012252	Abnormal respiratory system morphology	341640	FREM2	ORPHA:2052
HP:0012252	Abnormal respiratory system morphology	80144	FRAS1	ORPHA:2052
HP:0012252	Abnormal respiratory system morphology	23426	GRIP1	ORPHA:2052
HP:0012252	Abnormal respiratory system morphology	23426	GRIP1	OMIM:617667
HP:0012252	Abnormal respiratory system morphology	2657	GDF1	OMIM:208530
HP:0012252	Abnormal respiratory system morphology	2187	FANCB	OMIM:300514
HP:0012252	Abnormal respiratory system morphology	51604	PIGT	ORPHA:369837
HP:0012252	Abnormal respiratory system morphology	284086	NEK8	OMIM:615415
HP:0012252	Abnormal respiratory system morphology	219844	HYLS1	OMIM:236680
HP:0012252	Abnormal respiratory system morphology	22827	PUF60	ORPHA:508488
HP:0012252	Abnormal respiratory system morphology	79796	ALG9	ORPHA:79328
HP:0012252	Abnormal respiratory system morphology	79796	ALG9	OMIM:263210
HP:0012252	Abnormal respiratory system morphology	9184	BUB3	ORPHA:1052
HP:0012252	Abnormal respiratory system morphology	699	BUB1	ORPHA:1052
HP:0012252	Abnormal respiratory system morphology	9702	CEP57	ORPHA:1052
HP:0012252	Abnormal respiratory system morphology	9702	CEP57	OMIM:614114
HP:0012252	Abnormal respiratory system morphology	701	BUB1B	ORPHA:1052
HP:0012252	Abnormal respiratory system morphology	10436	EMG1	ORPHA:1270
HP:0012252	Abnormal respiratory system morphology	2239	GPC4	OMIM:312870
HP:0012252	Abnormal respiratory system morphology	64127	NOD2	OMIM:617321
HP:0012252	Abnormal respiratory system morphology	2213	FCGR2B	OMIM:152700
HP:0012252	Abnormal respiratory system morphology	11277	TREX1	OMIM:152700
HP:0012252	Abnormal respiratory system morphology	1773	DNASE1	OMIM:152700
HP:0012252	Abnormal respiratory system morphology	10216	PRG4	ORPHA:2848
HP:0012252	Abnormal respiratory system morphology	7132	TNFRSF1A	OMIM:142680
HP:0012252	Abnormal respiratory system morphology	7132	TNFRSF1A	ORPHA:32960
HP:0012252	Abnormal respiratory system morphology	3662	IRF4	ORPHA:3452
HP:0012252	Abnormal respiratory system morphology	26191	PTPN22	ORPHA:397
HP:0012252	Abnormal respiratory system morphology	3106	HLA-B	ORPHA:397
HP:0012252	Abnormal respiratory system morphology	3106	HLA-B	ORPHA:36426
HP:0012252	Abnormal respiratory system morphology	3106	HLA-B	ORPHA:29207
HP:0012252	Abnormal respiratory system morphology	8974	P4HA2	ORPHA:397
HP:0012252	Abnormal respiratory system morphology	2990	GUSB	ORPHA:584
HP:0012252	Abnormal respiratory system morphology	1493	CTLA4	ORPHA:3162
HP:0012252	Abnormal respiratory system morphology	940	CD28	ORPHA:3162
HP:0012252	Abnormal respiratory system morphology	7133	TNFRSF1B	ORPHA:3162
HP:0012252	Abnormal respiratory system morphology	10320	IKZF1	ORPHA:36426
HP:0012252	Abnormal respiratory system morphology	27238	GPKOW	ORPHA:2570
HP:0012252	Abnormal respiratory system morphology	8518	ELP1	ORPHA:1764
HP:0012252	Abnormal respiratory system morphology	6804	STX1A	ORPHA:586
HP:0012252	Abnormal respiratory system morphology	2947	GSTM3	ORPHA:586
HP:0012252	Abnormal respiratory system morphology	7040	TGFB1	ORPHA:586
HP:0012252	Abnormal respiratory system morphology	7040	TGFB1	OMIM:219700
HP:0012252	Abnormal respiratory system morphology	2729	GCLC	ORPHA:586
HP:0012252	Abnormal respiratory system morphology	1084	CEACAM3	ORPHA:586
HP:0012252	Abnormal respiratory system morphology	6556	SLC11A1	ORPHA:586
HP:0012252	Abnormal respiratory system morphology	51164	DCTN4	ORPHA:586
HP:0012252	Abnormal respiratory system morphology	3783	KCNN4	ORPHA:586
HP:0012252	Abnormal respiratory system morphology	4282	MIF	ORPHA:586
HP:0012252	Abnormal respiratory system morphology	1909	EDNRA	ORPHA:586
HP:0012252	Abnormal respiratory system morphology	6550	SLC9A3	ORPHA:586
HP:0012252	Abnormal respiratory system morphology	3162	HMOX1	ORPHA:586
HP:0012252	Abnormal respiratory system morphology	115019	SLC26A9	ORPHA:586
HP:0012252	Abnormal respiratory system morphology	3077	HFE	ORPHA:586
HP:0012252	Abnormal respiratory system morphology	11254	SLC6A14	ORPHA:586
HP:0012252	Abnormal respiratory system morphology	22802	CLCA4	ORPHA:586
HP:0012252	Abnormal respiratory system morphology	4680	CEACAM6	ORPHA:586
HP:0012252	Abnormal respiratory system morphology	1289	COL5A1	OMIM:130000
HP:0012252	Abnormal respiratory system morphology	2658	GDF2	ORPHA:774
HP:0012252	Abnormal respiratory system morphology	94	ACVRL1	ORPHA:774
HP:0012252	Abnormal respiratory system morphology	4089	SMAD4	ORPHA:774
HP:0012252	Abnormal respiratory system morphology	4089	SMAD4	ORPHA:91387
HP:0012252	Abnormal respiratory system morphology	2212	FCGR2A	OMIM:219700
HP:0012252	Abnormal respiratory system morphology	1290	COL5A2	OMIM:130010
HP:0012252	Abnormal respiratory system morphology	3593	IL12B	ORPHA:3287
HP:0012252	Abnormal respiratory system morphology	6945	MLX	ORPHA:3287
HP:0012252	Abnormal respiratory system morphology	10092	ARPC5	OMIM:620565
HP:0012252	Abnormal respiratory system morphology	2153	F5	ORPHA:326
HP:0012252	Abnormal respiratory system morphology	55340	GIMAP5	OMIM:619463
HP:0012252	Abnormal respiratory system morphology	84818	IL17RC	ORPHA:1334
HP:0012252	Abnormal respiratory system morphology	64581	CLEC7A	ORPHA:1334
HP:0012252	Abnormal respiratory system morphology	23765	IL17RA	ORPHA:1334
HP:0012252	Abnormal respiratory system morphology	10758	TRAF3IP2	ORPHA:1334
HP:0012252	Abnormal respiratory system morphology	112744	IL17F	ORPHA:1334
HP:0012252	Abnormal respiratory system morphology	4629	MYH11	ORPHA:91387
HP:0012252	Abnormal respiratory system morphology	7046	TGFBR1	ORPHA:91387
HP:0012252	Abnormal respiratory system morphology	7048	TGFBR2	ORPHA:91387
HP:0012252	Abnormal respiratory system morphology	4015	LOX	ORPHA:91387
HP:0012252	Abnormal respiratory system morphology	4087	SMAD2	ORPHA:91387
HP:0012252	Abnormal respiratory system morphology	7043	TGFB3	ORPHA:91387
HP:0012252	Abnormal respiratory system morphology	4088	SMAD3	ORPHA:91387
HP:0012252	Abnormal respiratory system morphology	59	ACTA2	ORPHA:91387
HP:0012252	Abnormal respiratory system morphology	5592	PRKG1	ORPHA:91387
HP:0012252	Abnormal respiratory system morphology	2301	FOXE3	ORPHA:91387
HP:0012252	Abnormal respiratory system morphology	4144	MAT2A	ORPHA:91387
HP:0012252	Abnormal respiratory system morphology	23493	HEY2	ORPHA:91387
HP:0012252	Abnormal respiratory system morphology	8076	MFAP5	ORPHA:91387
HP:0012252	Abnormal respiratory system morphology	4638	MYLK	ORPHA:91387
HP:0012252	Abnormal respiratory system morphology	79875	THSD4	ORPHA:91387
HP:0012252	Abnormal respiratory system morphology	7092	TLL1	ORPHA:99106
HP:0012252	Abnormal respiratory system morphology	80204	FBXO11	OMIM:618089
HP:0012252	Abnormal respiratory system morphology	113189	CHST14	ORPHA:2953
HP:0012252	Abnormal respiratory system morphology	113189	CHST14	OMIM:601776
HP:0012252	Abnormal respiratory system morphology	29940	DSE	ORPHA:2953
HP:0012252	Abnormal respiratory system morphology	10352	WARS2	OMIM:619738
HP:0012252	Abnormal respiratory system morphology	29957	SLC25A24	OMIM:612289
HP:0012252	Abnormal respiratory system morphology	1317	SLC31A1	OMIM:620306
HP:0012252	Abnormal respiratory system morphology	79770	TXNDC15	OMIM:619879
HP:0012252	Abnormal respiratory system morphology	81570	CLPB	ORPHA:445038
HP:0012252	Abnormal respiratory system morphology	2131	EXT1	ORPHA:321
HP:0012252	Abnormal respiratory system morphology	2132	EXT2	ORPHA:321
HP:0012252	Abnormal respiratory system morphology	4921	DDR2	OMIM:618175
HP:0012252	Abnormal respiratory system morphology	3265	HRAS	OMIM:218040
HP:0012252	Abnormal respiratory system morphology	199221	DZIP1L	ORPHA:731
HP:0012252	Abnormal respiratory system morphology	5314	PKHD1	ORPHA:731
HP:0012252	Abnormal respiratory system morphology	3071	NCKAP1L	OMIM:618982
HP:0012252	Abnormal respiratory system morphology	1729	DIAPH1	ORPHA:477814
HP:0012252	Abnormal respiratory system morphology	1729	DIAPH1	OMIM:616632
HP:0012252	Abnormal respiratory system morphology	9948	WDR1	OMIM:150550
HP:0012252	Abnormal respiratory system morphology	5424	POLD1	OMIM:620836
HP:0012252	Abnormal respiratory system morphology	3604	TNFRSF9	OMIM:620282
HP:0012252	Abnormal respiratory system morphology	54453	RIN2	OMIM:613075
HP:0012252	Abnormal respiratory system morphology	10379	IRF9	OMIM:618648
HP:0012252	Abnormal respiratory system morphology	5426	POLE	OMIM:615139
HP:0012252	Abnormal respiratory system morphology	219972	MPEG1	OMIM:619223
HP:0012252	Abnormal respiratory system morphology	4700	NDUFA6	OMIM:618253
HP:0012252	Abnormal respiratory system morphology	10125	RASGRP1	OMIM:618534
HP:0012252	Abnormal respiratory system morphology	23568	ARL2BP	OMIM:615434
HP:0012252	Abnormal respiratory system morphology	54440	SASH3	OMIM:301082
HP:0012252	Abnormal respiratory system morphology	6789	STK4	OMIM:614868
HP:0012252	Abnormal respiratory system morphology	55719	SLF2	OMIM:620184
HP:0012252	Abnormal respiratory system morphology	11117	EMILIN1	OMIM:620080
HP:0012252	Abnormal respiratory system morphology	27040	LAT	OMIM:617514
HP:0012252	Abnormal respiratory system morphology	96459	FNIP1	OMIM:619705
HP:0012252	Abnormal respiratory system morphology	55315	SLC29A3	ORPHA:168569
HP:0012252	Abnormal respiratory system morphology	9138	ARHGEF1	OMIM:618459
HP:0012252	Abnormal respiratory system morphology	355	FAS	ORPHA:3261
HP:0012252	Abnormal respiratory system morphology	355	FAS	ORPHA:117
HP:0012252	Abnormal respiratory system morphology	356	FASLG	ORPHA:3261
HP:0012252	Abnormal respiratory system morphology	843	CASP10	ORPHA:3261
HP:0012252	Abnormal respiratory system morphology	330	BIRC3	ORPHA:52417
HP:0012252	Abnormal respiratory system morphology	10892	MALT1	ORPHA:52417
HP:0012252	Abnormal respiratory system morphology	27086	FOXP1	ORPHA:52417
HP:0012252	Abnormal respiratory system morphology	3492	IGH	ORPHA:52417
HP:0012252	Abnormal respiratory system morphology	8915	BCL10	ORPHA:52417
HP:0012252	Abnormal respiratory system morphology	5156	PDGFRA	OMIM:607685
HP:0012252	Abnormal respiratory system morphology	5657	PRTN3	ORPHA:900
HP:0012252	Abnormal respiratory system morphology	3113	HLA-DPA1	ORPHA:900
HP:0012252	Abnormal respiratory system morphology	3043	HBB	ORPHA:251380
HP:0012252	Abnormal respiratory system morphology	53335	BCL11A	ORPHA:251380
HP:0012252	Abnormal respiratory system morphology	10661	KLF1	ORPHA:251380
HP:0012252	Abnormal respiratory system morphology	3047	HBG1	ORPHA:251380
HP:0012252	Abnormal respiratory system morphology	3048	HBG2	ORPHA:251380
HP:0012252	Abnormal respiratory system morphology	7317	UBA1	OMIM:301054
HP:0012252	Abnormal respiratory system morphology	60468	BACH2	OMIM:618394
HP:0012252	Abnormal respiratory system morphology	3459	IFNGR1	OMIM:209950
HP:0012252	Abnormal respiratory system morphology	3459	IFNGR1	ORPHA:117
HP:0012252	Abnormal respiratory system morphology	9663	LPIN2	ORPHA:77297
HP:0012252	Abnormal respiratory system morphology	348	APOE	ORPHA:158029
HP:0012252	Abnormal respiratory system morphology	5557	PRIM1	OMIM:620005
HP:0012252	Abnormal respiratory system morphology	4615	MYD88	ORPHA:33226
HP:0012252	Abnormal respiratory system morphology	254428	SLC41A1	OMIM:619468
HP:0012252	Abnormal respiratory system morphology	1235	CCR6	ORPHA:220393
HP:0012252	Abnormal respiratory system morphology	1490	CCN2	ORPHA:220393
HP:0012252	Abnormal respiratory system morphology	3663	IRF5	ORPHA:220393
HP:0012252	Abnormal respiratory system morphology	857	CAV1	ORPHA:220393
HP:0012252	Abnormal respiratory system morphology	3559	IL2RA	OMIM:606367
HP:0012252	Abnormal respiratory system morphology	5873	RAB27A	ORPHA:79477
HP:0012252	Abnormal respiratory system morphology	149233	IL23R	ORPHA:117
HP:0012252	Abnormal respiratory system morphology	6775	STAT4	ORPHA:117
HP:0012252	Abnormal respiratory system morphology	3586	IL10	ORPHA:117
HP:0012252	Abnormal respiratory system morphology	4210	MEFV	ORPHA:117
HP:0012252	Abnormal respiratory system morphology	1230	CCR1	ORPHA:117
HP:0012252	Abnormal respiratory system morphology	3592	IL12A	ORPHA:117
HP:0012252	Abnormal respiratory system morphology	101928376	IL12A-AS1	ORPHA:117
HP:0012252	Abnormal respiratory system morphology	7099	TLR4	ORPHA:117
HP:0012252	Abnormal respiratory system morphology	720	C4A	ORPHA:117
HP:0012252	Abnormal respiratory system morphology	337867	UBAC2	ORPHA:117
HP:0012252	Abnormal respiratory system morphology	51752	ERAP1	ORPHA:117
HP:0012252	Abnormal respiratory system morphology	8302	KLRC4	ORPHA:117
HP:0012252	Abnormal respiratory system morphology	83483	PLVAP	OMIM:618183
HP:0012252	Abnormal respiratory system morphology	2294	FOXF1	OMIM:265380
HP:0012252	Abnormal respiratory system morphology	144811	LACC1	ORPHA:85414
HP:0012252	Abnormal respiratory system morphology	3569	IL6	ORPHA:85414
HP:0012252	Abnormal respiratory system morphology	8216	LZTR1	OMIM:616564
HP:0012252	Abnormal respiratory system morphology	9780	PIEZO1	OMIM:616843
HP:0012252	Abnormal respiratory system morphology	6016	RIT1	OMIM:615355
HP:0012252	Abnormal respiratory system morphology	25821	MTO1	OMIM:614702
HP:0012252	Abnormal respiratory system morphology	6696	SPP1	ORPHA:93552
HP:0012252	Abnormal respiratory system morphology	6303	SAT1	ORPHA:93552
HP:0012252	Abnormal respiratory system morphology	3654	IRAK1	ORPHA:93552
HP:0012252	Abnormal respiratory system morphology	596	BCL2	ORPHA:545
HP:0012252	Abnormal respiratory system morphology	604	BCL6	ORPHA:545
HP:0012252	Abnormal respiratory system morphology	84162	BLTP1	OMIM:617822
HP:0012252	Abnormal respiratory system morphology	54345	SOX18	ORPHA:69735
HP:0012252	Abnormal respiratory system morphology	64135	IFIH1	OMIM:182250
HP:0012252	Abnormal respiratory system morphology	2859	GPR35	ORPHA:171
HP:0012252	Abnormal respiratory system morphology	10507	SEMA4D	ORPHA:171
HP:0012252	Abnormal respiratory system morphology	4485	MST1	ORPHA:171
HP:0012252	Abnormal respiratory system morphology	6925	TCF4	ORPHA:171
HP:0012252	Abnormal respiratory system morphology	50619	DEF6	OMIM:619573
HP:0012252	Abnormal respiratory system morphology	11274	USP18	OMIM:617397
HP:0012252	Abnormal respiratory system morphology	1130	LYST	ORPHA:167
HP:0012252	Abnormal respiratory system morphology	10203	CALCRL	OMIM:618773
HP:0012252	Abnormal respiratory system morphology	9971	NR1H4	OMIM:617049
HP:0012252	Abnormal respiratory system morphology	650	BMP2	OMIM:235200
HP:0012252	Abnormal respiratory system morphology	595	CCND1	ORPHA:29073
HP:0012252	Abnormal respiratory system morphology	3702	ITK	OMIM:613011
HP:0012252	Abnormal respiratory system morphology	11330	CTRC	OMIM:167800
HP:0012252	Abnormal respiratory system morphology	5645	PRSS2	OMIM:167800
HP:0012252	Abnormal respiratory system morphology	5644	PRSS1	OMIM:167800
HP:0012252	Abnormal respiratory system morphology	6690	SPINK1	OMIM:167800
HP:0012252	Abnormal respiratory system morphology	202018	TAPT1	OMIM:616897
HP:0012252	Abnormal respiratory system morphology	3832	KIF11	ORPHA:2526
HP:0012252	Abnormal respiratory system morphology	738	VPS51	OMIM:618606
HP:0012252	Abnormal respiratory system morphology	6329	SCN4A	OMIM:620369
HP:0012252	Abnormal respiratory system morphology	147372	CCBE1	OMIM:235510
HP:0012252	Abnormal respiratory system morphology	8367	H4C5	OMIM:619950
HP:0012252	Abnormal respiratory system morphology	5393	EXOSC9	OMIM:618065
HP:0012252	Abnormal respiratory system morphology	5631	PRPS1	ORPHA:411543
HP:0012252	Abnormal respiratory system morphology	10054	UBA2	OMIM:619959
HP:0012252	Abnormal respiratory system morphology	5238	PGM3	ORPHA:443811
HP:0012252	Abnormal respiratory system morphology	5238	PGM3	OMIM:615816
HP:0012252	Abnormal respiratory system morphology	652	BMP4	ORPHA:828
HP:0012252	Abnormal respiratory system morphology	7360	UGP2	OMIM:618744
HP:0012252	Abnormal respiratory system morphology	128178	EDARADD	OMIM:614941
HP:0012252	Abnormal respiratory system morphology	1131	CHRM3	ORPHA:2970
HP:0012252	Abnormal respiratory system morphology	79848	CSPP1	ORPHA:397715
HP:0012252	Abnormal respiratory system morphology	9786	KIAA0586	ORPHA:397715
HP:0012252	Abnormal respiratory system morphology	5354	PLP1	ORPHA:99015
HP:0012252	Abnormal respiratory system morphology	249	ALPL	OMIM:241500
HP:0012252	Abnormal respiratory system morphology	613	BCR	ORPHA:261330
HP:0012252	Abnormal respiratory system morphology	1399	CRKL	ORPHA:261330
HP:0012252	Abnormal respiratory system morphology	5594	MAPK1	ORPHA:261330
HP:0012252	Abnormal respiratory system morphology	51506	UFC1	OMIM:618076
HP:0012252	Abnormal respiratory system morphology	283489	CHAMP1	OMIM:616579
HP:0012252	Abnormal respiratory system morphology	65082	VPS33A	OMIM:617303
HP:0012252	Abnormal respiratory system morphology	65082	VPS33A	ORPHA:505248
HP:0012252	Abnormal respiratory system morphology	25782	RAB3GAP2	OMIM:212720
HP:0012252	Abnormal respiratory system morphology	5818	NECTIN1	ORPHA:3253
HP:0012252	Abnormal respiratory system morphology	55768	NGLY1	ORPHA:404454
HP:0012252	Abnormal respiratory system morphology	55768	NGLY1	OMIM:615273
HP:0012252	Abnormal respiratory system morphology	57492	ARID1B	OMIM:135900
HP:0012252	Abnormal respiratory system morphology	284058	KANSL1	ORPHA:363958
HP:0012252	Abnormal respiratory system morphology	284058	KANSL1	ORPHA:363965
HP:0012252	Abnormal respiratory system morphology	92579	G6PC3	OMIM:612541
HP:0012252	Abnormal respiratory system morphology	9326	ZNHIT3	ORPHA:2836
HP:0012252	Abnormal respiratory system morphology	3572	IL6ST	OMIM:618523
HP:0012252	Abnormal respiratory system morphology	64359	NXN	ORPHA:1507
HP:0012252	Abnormal respiratory system morphology	4920	ROR2	ORPHA:1507
HP:0012252	Abnormal respiratory system morphology	100303755	PET117	OMIM:619063
HP:0012252	Abnormal respiratory system morphology	171023	ASXL1	ORPHA:97297
HP:0012252	Abnormal respiratory system morphology	10815	CPLX1	ORPHA:280
HP:0012252	Abnormal respiratory system morphology	54872	PIGG	ORPHA:280
HP:0012252	Abnormal respiratory system morphology	7469	NELFA	ORPHA:280
HP:0012252	Abnormal respiratory system morphology	1487	CTBP1	ORPHA:280
HP:0012252	Abnormal respiratory system morphology	3954	LETM1	ORPHA:280
HP:0012252	Abnormal respiratory system morphology	7468	NSD2	ORPHA:280
HP:0012252	Abnormal respiratory system morphology	4633	MYL2	ORPHA:2020
HP:0012252	Abnormal respiratory system morphology	3679	ITGA7	ORPHA:2020
HP:0012252	Abnormal respiratory system morphology	7169	TPM2	ORPHA:2020
HP:0012252	Abnormal respiratory system morphology	9200	HACD1	ORPHA:2020
HP:0012252	Abnormal respiratory system morphology	7170	TPM3	ORPHA:2020
HP:0012252	Abnormal respiratory system morphology	51776	MAP3K20	ORPHA:2020
HP:0012252	Abnormal respiratory system morphology	28755	TRAC	OMIM:615387
HP:0012252	Abnormal respiratory system morphology	79813	EHMT1	OMIM:610253
HP:0012252	Abnormal respiratory system morphology	29128	UHRF1	ORPHA:2268
HP:0012252	Abnormal respiratory system morphology	3070	HELLS	ORPHA:2268
HP:0012252	Abnormal respiratory system morphology	83879	CDCA7	ORPHA:2268
HP:0012252	Abnormal respiratory system morphology	2752	GLUL	OMIM:610015
HP:0012252	Abnormal respiratory system morphology	3425	IDUA	OMIM:607014
HP:0012252	Abnormal respiratory system morphology	3425	IDUA	OMIM:607015
HP:0012252	Abnormal respiratory system morphology	3425	IDUA	ORPHA:93473
HP:0012252	Abnormal respiratory system morphology	175	AGA	ORPHA:93
HP:0012252	Abnormal respiratory system morphology	175	AGA	OMIM:208400
HP:0012252	Abnormal respiratory system morphology	2214	FCGR3A	OMIM:615707
HP:0012252	Abnormal respiratory system morphology	4853	NOTCH2	ORPHA:955
HP:0012252	Abnormal respiratory system morphology	113278	SLC52A3	OMIM:211530
HP:0012252	Abnormal respiratory system morphology	30011	SH3KBP1	OMIM:300310
HP:0012252	Abnormal respiratory system morphology	57217	TTC7A	OMIM:243150
HP:0012252	Abnormal respiratory system morphology	23126	POGZ	OMIM:616364
HP:0012252	Abnormal respiratory system morphology	55773	TBC1D23	OMIM:617695
HP:0012252	Abnormal respiratory system morphology	9681	DEPDC5	OMIM:620504
HP:0012252	Abnormal respiratory system morphology	7461	CLIP2	ORPHA:904
HP:0012252	Abnormal respiratory system morphology	84277	DNAJC30	ORPHA:904
HP:0012252	Abnormal respiratory system morphology	8468	FKBP6	ORPHA:904
HP:0012252	Abnormal respiratory system morphology	5982	RFC2	ORPHA:904
HP:0012252	Abnormal respiratory system morphology	2969	GTF2I	ORPHA:904
HP:0012252	Abnormal respiratory system morphology	3984	LIMK1	ORPHA:904
HP:0012252	Abnormal respiratory system morphology	9569	GTF2IRD1	ORPHA:904
HP:0012252	Abnormal respiratory system morphology	155382	VPS37D	ORPHA:904
HP:0012252	Abnormal respiratory system morphology	155368	METTL27	ORPHA:904
HP:0012252	Abnormal respiratory system morphology	114049	BUD23	ORPHA:904
HP:0012252	Abnormal respiratory system morphology	7458	EIF4H	ORPHA:904
HP:0012252	Abnormal respiratory system morphology	84163	GTF2IRD2	ORPHA:904
HP:0012252	Abnormal respiratory system morphology	26608	TBL2	ORPHA:904
HP:0012252	Abnormal respiratory system morphology	135886	TMEM270	ORPHA:904
HP:0012252	Abnormal respiratory system morphology	9031	BAZ1B	ORPHA:904
HP:0012252	Abnormal respiratory system morphology	8364	H4C3	OMIM:619758
HP:0012252	Abnormal respiratory system morphology	8085	KMT2D	OMIM:620186
HP:0012252	Abnormal respiratory system morphology	93986	FOXP2	ORPHA:251061
HP:0012252	Abnormal respiratory system morphology	4644	MYO5A	ORPHA:33445
HP:0012252	Abnormal respiratory system morphology	9321	TRIP11	OMIM:184260
HP:0012252	Abnormal respiratory system morphology	2316	FLNA	ORPHA:2484
HP:0012252	Abnormal respiratory system morphology	2316	FLNA	OMIM:309350
HP:0012252	Abnormal respiratory system morphology	9772	TMEM94	OMIM:618316
HP:0012252	Abnormal respiratory system morphology	917	CD3G	OMIM:615607
HP:0012252	Abnormal respiratory system morphology	9338	TCEAL1	OMIM:301094
HP:0012252	Abnormal respiratory system morphology	26154	ABCA12	ORPHA:457
HP:0012252	Abnormal respiratory system morphology	26154	ABCA12	ORPHA:313
HP:0012252	Abnormal respiratory system morphology	6638	SNRPN	ORPHA:98754
HP:0012252	Abnormal respiratory system morphology	6638	SNRPN	ORPHA:177904
HP:0012252	Abnormal respiratory system morphology	6638	SNRPN	ORPHA:177901
HP:0012252	Abnormal respiratory system morphology	6638	SNRPN	ORPHA:177907
HP:0012252	Abnormal respiratory system morphology	4692	NDN	ORPHA:98754
HP:0012252	Abnormal respiratory system morphology	4692	NDN	ORPHA:177904
HP:0012252	Abnormal respiratory system morphology	4692	NDN	ORPHA:177901
HP:0012252	Abnormal respiratory system morphology	54551	MAGEL2	ORPHA:98754
HP:0012252	Abnormal respiratory system morphology	54551	MAGEL2	OMIM:176270
HP:0012252	Abnormal respiratory system morphology	54551	MAGEL2	ORPHA:177904
HP:0012252	Abnormal respiratory system morphology	54551	MAGEL2	ORPHA:177901
HP:0012252	Abnormal respiratory system morphology	54551	MAGEL2	ORPHA:398069
HP:0012252	Abnormal respiratory system morphology	4948	OCA2	ORPHA:98754
HP:0012252	Abnormal respiratory system morphology	4948	OCA2	ORPHA:177904
HP:0012252	Abnormal respiratory system morphology	4948	OCA2	ORPHA:177901
HP:0012252	Abnormal respiratory system morphology	145873	MESP2	OMIM:608681
HP:0012252	Abnormal respiratory system morphology	145873	MESP2	OMIM:277300
HP:0012252	Abnormal respiratory system morphology	57724	EPG5	OMIM:242840
HP:0012252	Abnormal respiratory system morphology	57724	EPG5	ORPHA:1493
HP:0012252	Abnormal respiratory system morphology	8242	KDM5C	OMIM:300534
HP:0012252	Abnormal respiratory system morphology	197258	FCSK	OMIM:618324
HP:0012252	Abnormal respiratory system morphology	79989	IFT56	OMIM:619534
HP:0012252	Abnormal respiratory system morphology	84522	JAGN1	OMIM:616022
HP:0012252	Abnormal respiratory system morphology	7994	KAT6A	OMIM:616268
HP:0012252	Abnormal respiratory system morphology	3551	IKBKB	OMIM:618204
HP:0012252	Abnormal respiratory system morphology	23219	FBXO28	OMIM:619777
HP:0012252	Abnormal respiratory system morphology	51322	WAC	ORPHA:466950
HP:0012252	Abnormal respiratory system morphology	6509	SLC1A4	ORPHA:447997
HP:0012252	Abnormal respiratory system morphology	79087	ALG12	ORPHA:79324
HP:0012252	Abnormal respiratory system morphology	2000	ELF4	OMIM:301074
HP:0012252	Abnormal respiratory system morphology	6595	SMARCA2	OMIM:601358
HP:0012252	Abnormal respiratory system morphology	9742	IFT140	OMIM:266920
HP:0012252	Abnormal respiratory system morphology	7227	TRPS1	OMIM:190350
HP:0012252	Abnormal respiratory system morphology	7319	UBE2A	ORPHA:163956
HP:0012252	Abnormal respiratory system morphology	5908	RAP1B	OMIM:620654
HP:0012252	Abnormal respiratory system morphology	1828	DSG1	OMIM:615508
HP:0012252	Abnormal respiratory system morphology	5830	PEX5	OMIM:616716
HP:0012252	Abnormal respiratory system morphology	219285	SAMD9L	ORPHA:2585
HP:0012252	Abnormal respiratory system morphology	6792	CDKL5	ORPHA:1934
HP:0012252	Abnormal respiratory system morphology	3736	KCNA1	ORPHA:1934
HP:0012252	Abnormal respiratory system morphology	9091	PIGQ	ORPHA:1934
HP:0012252	Abnormal respiratory system morphology	140679	SLC32A1	ORPHA:1934
HP:0012252	Abnormal respiratory system morphology	2775	GNAO1	ORPHA:1934
HP:0012252	Abnormal respiratory system morphology	81603	TRIM8	ORPHA:1934
HP:0012252	Abnormal respiratory system morphology	2902	GRIN1	ORPHA:1934
HP:0012252	Abnormal respiratory system morphology	79751	SLC25A22	ORPHA:1934
HP:0012252	Abnormal respiratory system morphology	150094	SIK1	ORPHA:1934
HP:0012252	Abnormal respiratory system morphology	8573	CASK	ORPHA:1934
HP:0012252	Abnormal respiratory system morphology	23312	DMXL2	ORPHA:1934
HP:0012252	Abnormal respiratory system morphology	2917	GRM7	ORPHA:1934
HP:0012252	Abnormal respiratory system morphology	170302	ARX	ORPHA:1934
HP:0012252	Abnormal respiratory system morphology	11284	PNKP	ORPHA:1934
HP:0012252	Abnormal respiratory system morphology	6326	SCN2A	ORPHA:1934
HP:0012252	Abnormal respiratory system morphology	51227	PIGP	ORPHA:1934
HP:0012252	Abnormal respiratory system morphology	6324	SCN1B	ORPHA:1934
HP:0012252	Abnormal respiratory system morphology	4761	NEUROD2	ORPHA:1934
HP:0012252	Abnormal respiratory system morphology	204	AK2	ORPHA:33355
HP:0012252	Abnormal respiratory system morphology	4126	MANBA	ORPHA:118
HP:0012252	Abnormal respiratory system morphology	331	XIAP	OMIM:300635
HP:0012252	Abnormal respiratory system morphology	331	XIAP	OMIM:308240
HP:0012252	Abnormal respiratory system morphology	89891	DYNC2I2	OMIM:615633
HP:0012252	Abnormal respiratory system morphology	10806	SDCCAG8	OMIM:615993
HP:0012252	Abnormal respiratory system morphology	23394	ADNP	OMIM:615873
HP:0012252	Abnormal respiratory system morphology	8818	DPM2	ORPHA:329178
HP:0012252	Abnormal respiratory system morphology	8737	RIPK1	OMIM:618108
HP:0012252	Abnormal respiratory system morphology	4173	MCM4	OMIM:609981
HP:0012252	Abnormal respiratory system morphology	113235	SLC46A1	ORPHA:90045
HP:0012252	Abnormal respiratory system morphology	100033413	SNORD116-1	OMIM:176270
HP:0012252	Abnormal respiratory system morphology	8924	HERC2	OMIM:176270
HP:0012252	Abnormal respiratory system morphology	23742	NPAP1	OMIM:176270
HP:0012252	Abnormal respiratory system morphology	338433	SNORD115-1	OMIM:176270
HP:0012252	Abnormal respiratory system morphology	7681	MKRN3	OMIM:176270
HP:0012252	Abnormal respiratory system morphology	145624	PWAR1	OMIM:176270
HP:0012252	Abnormal respiratory system morphology	3653	IPW	OMIM:176270
HP:0012252	Abnormal respiratory system morphology	791114	PWRN1	OMIM:176270
HP:0012252	Abnormal respiratory system morphology	1186	CLCN7	ORPHA:667
HP:0012252	Abnormal respiratory system morphology	29887	SNX10	ORPHA:667
HP:0012252	Abnormal respiratory system morphology	8600	TNFSF11	ORPHA:667
HP:0012252	Abnormal respiratory system morphology	7372	UMPS	ORPHA:30
HP:0012252	Abnormal respiratory system morphology	57379	AICDA	OMIM:605258
HP:0012252	Abnormal respiratory system morphology	57511	COG6	ORPHA:363523
HP:0012252	Abnormal respiratory system morphology	23114	NFASC	OMIM:618356
HP:0012252	Abnormal respiratory system morphology	4792	NFKBIA	OMIM:612132
HP:0012252	Abnormal respiratory system morphology	6606	SMN1	OMIM:253550
HP:0012252	Abnormal respiratory system morphology	6606	SMN1	OMIM:253300
HP:0012252	Abnormal respiratory system morphology	6905	TBCE	ORPHA:2323
HP:0012252	Abnormal respiratory system morphology	54014	BRWD1	OMIM:620438
HP:0012252	Abnormal respiratory system morphology	83479	DDX59	OMIM:174300
HP:0012252	Abnormal respiratory system morphology	6492	SIM1	ORPHA:398079
HP:0012252	Abnormal respiratory system morphology	388389	DNAAF19	OMIM:614679
HP:0012252	Abnormal respiratory system morphology	5660	PSAP	ORPHA:139406
HP:0012252	Abnormal respiratory system morphology	114803	MYSM1	OMIM:618116
HP:0012252	Abnormal respiratory system morphology	59067	IL21	OMIM:615767
HP:0012252	Abnormal respiratory system morphology	10683	DLL3	OMIM:277300
HP:0012252	Abnormal respiratory system morphology	4068	SH2D1A	OMIM:308240
HP:0012252	Abnormal respiratory system morphology	79158	GNPTAB	ORPHA:576
HP:0012252	Abnormal respiratory system morphology	57551	TAOK1	OMIM:619575
HP:0012252	Abnormal respiratory system morphology	84061	MAGT1	OMIM:300853
HP:0012252	Abnormal respiratory system morphology	4621	MYH3	OMIM:193700
HP:0012252	Abnormal respiratory system morphology	6335	SCN9A	ORPHA:90026
HP:0012252	Abnormal respiratory system morphology	11280	SCN11A	ORPHA:90026
HP:0012252	Abnormal respiratory system morphology	6336	SCN10A	ORPHA:90026
HP:0012252	Abnormal respiratory system morphology	55764	IFT122	OMIM:218330
HP:0012252	Abnormal respiratory system morphology	7703	PCGF2	OMIM:618371
HP:0012252	Abnormal respiratory system morphology	774	CACNA1B	OMIM:618497
HP:0012252	Abnormal respiratory system morphology	4478	MSN	OMIM:300988
HP:0012252	Abnormal respiratory system morphology	51300	TIMMDC1	OMIM:618251
HP:0012252	Abnormal respiratory system morphology	8802	SUCLG1	ORPHA:17
HP:0012252	Abnormal respiratory system morphology	146206	CARMIL2	OMIM:618131
HP:0012252	Abnormal respiratory system morphology	3560	IL2RB	OMIM:618495
HP:0012252	Abnormal respiratory system morphology	25839	COG4	OMIM:613489
HP:0012252	Abnormal respiratory system morphology	8883	NAE1	OMIM:620210
HP:0012252	Abnormal respiratory system morphology	2313	FLI1	ORPHA:2308
HP:0012252	Abnormal respiratory system morphology	151516	ASPRV1	ORPHA:313
HP:0012252	Abnormal respiratory system morphology	242	ALOX12B	ORPHA:313
HP:0012252	Abnormal respiratory system morphology	126410	CYP4F22	ORPHA:313
HP:0012252	Abnormal respiratory system morphology	6820	SULT2B1	ORPHA:313
HP:0012252	Abnormal respiratory system morphology	643418	LIPN	ORPHA:313
HP:0012252	Abnormal respiratory system morphology	59344	ALOXE3	ORPHA:313
HP:0012252	Abnormal respiratory system morphology	348938	NIPAL4	ORPHA:313
HP:0012252	Abnormal respiratory system morphology	121214	SDR9C7	ORPHA:313
HP:0012252	Abnormal respiratory system morphology	7051	TGM1	ORPHA:313
HP:0012252	Abnormal respiratory system morphology	1075	CTSC	ORPHA:678
HP:0012252	Abnormal respiratory system morphology	2517	FUCA1	OMIM:230000
HP:0012252	Abnormal respiratory system morphology	1836	SLC26A2	ORPHA:628
HP:0012252	Abnormal respiratory system morphology	5184	PEPD	ORPHA:742
HP:0012252	Abnormal respiratory system morphology	3636	INPPL1	OMIM:258480
HP:0012252	Abnormal respiratory system morphology	3636	INPPL1	ORPHA:2746
HP:0012252	Abnormal respiratory system morphology	3845	KRAS	OMIM:614470
HP:0012252	Abnormal respiratory system morphology	55617	TASP1	OMIM:618950
HP:0012252	Abnormal respiratory system morphology	54790	TET2	OMIM:619126
HP:0012252	Abnormal respiratory system morphology	8239	USP9X	OMIM:300968
HP:0012252	Abnormal respiratory system morphology	51124	IER3IP1	OMIM:614231
HP:0012252	Abnormal respiratory system morphology	57477	SHROOM4	ORPHA:85288
HP:0012252	Abnormal respiratory system morphology	83737	ITCH	OMIM:613385
HP:0012252	Abnormal respiratory system morphology	84340	GFM2	OMIM:618397
HP:0012252	Abnormal respiratory system morphology	10398	MYL9	OMIM:619365
HP:0012252	Abnormal respiratory system morphology	10293	TRAIP	OMIM:616777
HP:0012252	Abnormal respiratory system morphology	6911	TBX6	ORPHA:1797
HP:0012252	Abnormal respiratory system morphology	2890	GRIA1	OMIM:619927
HP:0012252	Abnormal respiratory system morphology	50615	IL21R	OMIM:615207
HP:0012252	Abnormal respiratory system morphology	7297	TYK2	OMIM:611521
HP:0012252	Abnormal respiratory system morphology	60482	SLC5A7	ORPHA:98914
HP:0012252	Abnormal respiratory system morphology	4649	MYO9A	ORPHA:98914
HP:0012252	Abnormal respiratory system morphology	1305	COL13A1	ORPHA:98914
HP:0012252	Abnormal respiratory system morphology	1103	CHAT	ORPHA:98914
HP:0012252	Abnormal respiratory system morphology	6576	SLC25A1	ORPHA:98914
HP:0012252	Abnormal respiratory system morphology	6843	VAMP1	ORPHA:98914
HP:0012252	Abnormal respiratory system morphology	375790	AGRN	ORPHA:98914
HP:0012252	Abnormal respiratory system morphology	127833	SYT2	ORPHA:98914
HP:0012252	Abnormal respiratory system morphology	6572	SLC18A3	ORPHA:98914
HP:0012252	Abnormal respiratory system morphology	6616	SNAP25	ORPHA:98914
HP:0012252	Abnormal respiratory system morphology	1893	ECM1	ORPHA:530
HP:0012252	Abnormal respiratory system morphology	925	CD8A	OMIM:608957
HP:0012252	Abnormal respiratory system morphology	84905	ZNF341	OMIM:618282
HP:0012252	Abnormal respiratory system morphology	9895	TECPR2	ORPHA:320385
HP:0012252	Abnormal respiratory system morphology	4938	OAS1	OMIM:618042
HP:0012252	Abnormal respiratory system morphology	8651	SOCS1	OMIM:619375
HP:0012252	Abnormal respiratory system morphology	5116	PCNT	ORPHA:2637
HP:0012252	Abnormal respiratory system morphology	5430	POLR2A	OMIM:618603
HP:0012252	Abnormal respiratory system morphology	2624	GATA2	ORPHA:228423
HP:0012252	Abnormal respiratory system morphology	23522	KAT6B	ORPHA:3047
HP:0012252	Abnormal respiratory system morphology	26123	TCTN3	ORPHA:2753
HP:0012252	Abnormal respiratory system morphology	9897	WASHC5	ORPHA:7
HP:0012252	Abnormal respiratory system morphology	28952	CCDC22	ORPHA:7
HP:0012252	Abnormal respiratory system morphology	57020	VPS35L	ORPHA:7
HP:0012252	Abnormal respiratory system morphology	56896	DPYSL5	ORPHA:7
HP:0012252	Abnormal respiratory system morphology	4204	MECP2	OMIM:300260
HP:0012252	Abnormal respiratory system morphology	129285	PPP1R21	OMIM:619383
HP:0012252	Abnormal respiratory system morphology	6892	TAPBP	OMIM:620814
HP:0012252	Abnormal respiratory system morphology	406932	MIR140	OMIM:618618
HP:0012252	Abnormal respiratory system morphology	6891	TAP2	OMIM:620813
HP:0012252	Abnormal respiratory system morphology	25871	NEPRO	OMIM:618853
HP:0012252	Abnormal respiratory system morphology	9325	TRIP4	ORPHA:486815
HP:0012252	Abnormal respiratory system morphology	10043	TOM1	OMIM:619510
HP:0012252	Abnormal respiratory system morphology	55213	RCBTB1	OMIM:617175
HP:0012252	Abnormal respiratory system morphology	5880	RAC2	OMIM:618986
HP:0012252	Abnormal respiratory system morphology	3257	HPS1	OMIM:203300
HP:0012252	Abnormal respiratory system morphology	79932	KIAA0319L	ORPHA:220402
HP:0012252	Abnormal respiratory system morphology	89781	HPS4	OMIM:614073
HP:0012252	Abnormal respiratory system morphology	55596	ZCCHC8	OMIM:618674
HP:0012252	Abnormal respiratory system morphology	79803	HPS6	OMIM:614075
HP:0012252	Abnormal respiratory system morphology	3557	IL1RN	OMIM:612852
HP:0012252	Abnormal respiratory system morphology	6117	RPA1	OMIM:619767
HP:0012252	Abnormal respiratory system morphology	1962	EHHADH	ORPHA:3337
HP:0012252	Abnormal respiratory system morphology	2628	GATM	ORPHA:3337
HP:0012252	Abnormal respiratory system morphology	6569	SLC34A1	ORPHA:3337
HP:0012252	Abnormal respiratory system morphology	10577	NPC2	OMIM:607625
HP:0012252	Abnormal respiratory system morphology	340061	STING1	OMIM:615934
HP:0012252	Abnormal respiratory system morphology	25913	POT1	OMIM:620367
HP:0012252	Abnormal respiratory system morphology	8546	AP3B1	OMIM:608233
HP:0012252	Abnormal respiratory system morphology	29893	PSMC3IP	ORPHA:243
HP:0012252	Abnormal respiratory system morphology	171568	POLR3H	ORPHA:243
HP:0012252	Abnormal respiratory system morphology	2516	NR5A1	ORPHA:243
HP:0012252	Abnormal respiratory system morphology	125150	ZSWIM7	ORPHA:243
HP:0012252	Abnormal respiratory system morphology	9210	BMP15	ORPHA:243
HP:0012252	Abnormal respiratory system morphology	23514	SPIDR	ORPHA:243
HP:0012252	Abnormal respiratory system morphology	56945	MRPS22	ORPHA:243
HP:0012252	Abnormal respiratory system morphology	646	BNC1	ORPHA:243
HP:0012252	Abnormal respiratory system morphology	4438	MSH4	ORPHA:243
HP:0012252	Abnormal respiratory system morphology	57187	THOC2	ORPHA:457240
HP:0012252	Abnormal respiratory system morphology	374393	FAM111B	OMIM:615704
HP:0012252	Abnormal respiratory system morphology	5979	RET	ORPHA:1848
HP:0012252	Abnormal respiratory system morphology	8516	ITGA8	ORPHA:1848
HP:0012252	Abnormal respiratory system morphology	26281	FGF20	ORPHA:1848
HP:0012252	Abnormal respiratory system morphology	2674	GFRA1	ORPHA:1848
HP:0012252	Abnormal respiratory system morphology	7484	WNT9B	ORPHA:1848
HP:0012252	Abnormal respiratory system morphology	80000	GREB1L	ORPHA:1848
HP:0012252	Abnormal respiratory system morphology	6558	SLC12A2	OMIM:619083
HP:0012252	Abnormal respiratory system morphology	84172	POLR1B	ORPHA:861
HP:0012252	Abnormal respiratory system morphology	9533	POLR1C	ORPHA:861
HP:0012252	Abnormal respiratory system morphology	51082	POLR1D	ORPHA:861
HP:0012252	Abnormal respiratory system morphology	6949	TCOF1	ORPHA:861
HP:0012252	Abnormal respiratory system morphology	6299	SALL1	OMIM:107480
HP:0012252	Abnormal respiratory system morphology	7547	ZIC3	OMIM:314390
HP:0012252	Abnormal respiratory system morphology	55788	LMBRD1	OMIM:277380
HP:0012252	Abnormal respiratory system morphology	57466	SCAF4	OMIM:620511
HP:0012252	Abnormal respiratory system morphology	9723	SEMA3E	ORPHA:138
HP:0012252	Abnormal respiratory system morphology	6657	SOX2	ORPHA:77298
HP:0012252	Abnormal respiratory system morphology	6657	SOX2	ORPHA:3157
HP:0012252	Abnormal respiratory system morphology	2177	FANCD2	OMIM:227646
HP:0012252	Abnormal respiratory system morphology	2177	FANCD2	ORPHA:84
HP:0012252	Abnormal respiratory system morphology	55120	FANCL	OMIM:614083
HP:0012252	Abnormal respiratory system morphology	55120	FANCL	ORPHA:84
HP:0012252	Abnormal respiratory system morphology	10606	PAICS	OMIM:619859
HP:0012252	Abnormal respiratory system morphology	7476	WNT7A	ORPHA:2879
HP:0012252	Abnormal respiratory system morphology	85459	CEP295	OMIM:620767
HP:0012252	Abnormal respiratory system morphology	672	BRCA1	ORPHA:84
HP:0012252	Abnormal respiratory system morphology	10459	MAD2L2	ORPHA:84
HP:0012252	Abnormal respiratory system morphology	7516	XRCC2	ORPHA:84
HP:0012252	Abnormal respiratory system morphology	29089	UBE2T	ORPHA:84
HP:0012252	Abnormal respiratory system morphology	2175	FANCA	ORPHA:84
HP:0012252	Abnormal respiratory system morphology	2176	FANCC	ORPHA:84
HP:0012252	Abnormal respiratory system morphology	2178	FANCE	ORPHA:84
HP:0012252	Abnormal respiratory system morphology	2189	FANCG	ORPHA:84
HP:0012252	Abnormal respiratory system morphology	5888	RAD51	ORPHA:84
HP:0012252	Abnormal respiratory system morphology	5889	RAD51C	ORPHA:84
HP:0012252	Abnormal respiratory system morphology	55159	RFWD3	ORPHA:84
HP:0012252	Abnormal respiratory system morphology	83990	BRIP1	ORPHA:84
HP:0012252	Abnormal respiratory system morphology	57697	FANCM	ORPHA:84
HP:0012252	Abnormal respiratory system morphology	79728	PALB2	ORPHA:84
HP:0012252	Abnormal respiratory system morphology	84464	SLX4	ORPHA:84
HP:0012252	Abnormal respiratory system morphology	2072	ERCC4	ORPHA:84
HP:0012252	Abnormal respiratory system morphology	55215	FANCI	ORPHA:84
HP:0012252	Abnormal respiratory system morphology	5422	POLA1	OMIM:301030
HP:0012252	Abnormal respiratory system morphology	4613	MYCN	OMIM:164280
HP:0012252	Abnormal respiratory system morphology	51729	WBP11	OMIM:619227
HP:0012252	Abnormal respiratory system morphology	2260	FGFR1	ORPHA:3157
HP:0012252	Abnormal respiratory system morphology	128674	PROKR2	ORPHA:3157
HP:0012252	Abnormal respiratory system morphology	6658	SOX3	ORPHA:3157
HP:0012252	Abnormal respiratory system morphology	9915	ARNT2	ORPHA:3157
HP:0012252	Abnormal respiratory system morphology	8820	HESX1	ORPHA:3157
HP:0012252	Abnormal respiratory system morphology	5015	OTX2	ORPHA:3157
HP:0012252	Abnormal respiratory system morphology	2201	FBN2	ORPHA:115
HP:0012252	Abnormal respiratory system morphology	1301	COL11A1	OMIM:154780
HP:0012252	Abnormal respiratory system morphology	546	ATRX	OMIM:301040
HP:0012252	Abnormal respiratory system morphology	257	ALX3	OMIM:136760
HP:0012252	Abnormal respiratory system morphology	257	ALX3	ORPHA:391474
HP:0012252	Abnormal respiratory system morphology	6424	SFRP4	OMIM:265900
HP:0012252	Abnormal respiratory system morphology	6885	MAP3K7	OMIM:617137
HP:0012252	Abnormal respiratory system morphology	3766	KCNJ10	ORPHA:705
HP:0012252	Abnormal respiratory system morphology	2299	FOXI1	ORPHA:705
HP:0012252	Abnormal respiratory system morphology	5172	SLC26A4	ORPHA:705
HP:0012252	Abnormal respiratory system morphology	9719	ADAMTSL2	OMIM:231050
HP:0012252	Abnormal respiratory system morphology	6662	SOX9	ORPHA:718
HP:0012252	Abnormal respiratory system morphology	79633	FAT4	OMIM:616006
HP:0012252	Abnormal respiratory system morphology	79633	FAT4	ORPHA:314679
HP:0012252	Abnormal respiratory system morphology	8642	DCHS1	ORPHA:314679
HP:0012252	Abnormal respiratory system morphology	11146	GLMN	ORPHA:83454
HP:0012252	Abnormal respiratory system morphology	6125	RPL5	OMIM:612561
HP:0012252	Abnormal respiratory system morphology	27125	AFF4	OMIM:616368
HP:0012252	Abnormal respiratory system morphology	27125	AFF4	ORPHA:444077
HP:0012252	Abnormal respiratory system morphology	5396	PRRX1	OMIM:202650
HP:0012252	Abnormal respiratory system morphology	9759	HDAC4	ORPHA:1001
HP:0012252	Abnormal respiratory system morphology	5428	POLG	OMIM:203700
HP:0012252	Abnormal respiratory system morphology	80232	WDR26	ORPHA:513456
HP:0012252	Abnormal respiratory system morphology	58508	KMT2C	ORPHA:261652
HP:0012252	Abnormal respiratory system morphology	6628	SNRPB	ORPHA:1393
HP:0012252	Abnormal respiratory system morphology	253959	RALGAPA1	OMIM:618797
HP:0012252	Abnormal respiratory system morphology	27245	AHDC1	ORPHA:412069
HP:0012252	Abnormal respiratory system morphology	29072	SETD2	OMIM:620155
HP:0012252	Abnormal respiratory system morphology	139285	AMER1	OMIM:300373
HP:0012252	Abnormal respiratory system morphology	745	MYRF	OMIM:618280
HP:0012252	Abnormal respiratory system morphology	2263	FGFR2	ORPHA:93260
HP:0012252	Abnormal respiratory system morphology	2263	FGFR2	ORPHA:93259
HP:0012252	Abnormal respiratory system morphology	23321	TRIM2	OMIM:615490
HP:0012252	Abnormal respiratory system morphology	1280	COL2A1	OMIM:156550
HP:0012252	Abnormal respiratory system morphology	5000	ORC4	OMIM:613800
HP:0012252	Abnormal respiratory system morphology	23594	ORC6	OMIM:613803
HP:0012252	Abnormal respiratory system morphology	84181	CHD6	ORPHA:2108
HP:0012252	Abnormal respiratory system morphology	168667	BMPER	OMIM:608022
HP:0012252	Abnormal respiratory system morphology	5447	POR	OMIM:201750
HP:0012252	Abnormal respiratory system morphology	1291	COL6A1	OMIM:254090
HP:0012252	Abnormal respiratory system morphology	213	ALB	OMIM:616000
HP:0012252	Abnormal respiratory system morphology	213	ALB	ORPHA:86816
HP:0012252	Abnormal respiratory system morphology	57282	SLC4A10	OMIM:620746
HP:0012252	Abnormal respiratory system morphology	79912	PYROXD1	OMIM:617258
HP:0012252	Abnormal respiratory system morphology	3932	LCK	OMIM:615758
HP:0012252	Abnormal respiratory system morphology	8021	NUP214	OMIM:618426
HP:0012252	Abnormal respiratory system morphology	959	CD40LG	OMIM:308230
HP:0012252	Abnormal respiratory system morphology	79759	ZNF668	OMIM:620194
HP:0012252	Abnormal respiratory system morphology	11151	CORO1A	OMIM:615401
HP:0012252	Abnormal respiratory system morphology	8547	FCN3	OMIM:613860
HP:0012252	Abnormal respiratory system morphology	10525	HYOU1	OMIM:233600
HP:0012252	Abnormal respiratory system morphology	4780	NFE2L2	OMIM:617744
HP:0012252	Abnormal respiratory system morphology	5591	PRKDC	OMIM:615966
HP:0012252	Abnormal respiratory system morphology	91869	RFT1	OMIM:612015
HP:0012252	Abnormal respiratory system morphology	8292	COLQ	ORPHA:98915
HP:0012252	Abnormal respiratory system morphology	3913	LAMB2	ORPHA:98915
HP:0012252	Abnormal respiratory system morphology	868	CBLB	OMIM:620430
HP:0012252	Abnormal respiratory system morphology	57609	DIP2B	OMIM:136630
HP:0012252	Abnormal respiratory system morphology	4718	NDUFC2	OMIM:619170
HP:0012252	Abnormal respiratory system morphology	3978	LIG1	OMIM:619774
HP:0012252	Abnormal respiratory system morphology	2530	FUT8	OMIM:618005
HP:0012252	Abnormal respiratory system morphology	1292	COL6A2	OMIM:620727
HP:0012252	Abnormal respiratory system morphology	6573	SLC19A1	OMIM:620603
HP:0012252	Abnormal respiratory system morphology	9020	MAP3K14	OMIM:620449
HP:0012252	Abnormal respiratory system morphology	50628	GEMIN4	OMIM:617913
HP:0012252	Abnormal respiratory system morphology	5718	PSMD12	OMIM:617516
HP:0012252	Abnormal respiratory system morphology	92344	GORAB	OMIM:231070
HP:0012252	Abnormal respiratory system morphology	1604	CD55	OMIM:226300
HP:0012252	Abnormal respiratory system morphology	4591	TRIM37	OMIM:253250
HP:0012252	Abnormal respiratory system morphology	7407	VARS1	OMIM:617802
HP:0012252	Abnormal respiratory system morphology	6304	SATB1	OMIM:619229
HP:0012252	Abnormal respiratory system morphology	164781	DAW1	OMIM:620570
HP:0012252	Abnormal respiratory system morphology	222663	SCUBE3	OMIM:619184
HP:0012252	Abnormal respiratory system morphology	6448	SGSH	OMIM:252900
HP:0012252	Abnormal respiratory system morphology	84320	ACBD6	OMIM:620785
HP:0012252	Abnormal respiratory system morphology	3953	LEPR	OMIM:614963
HP:0012252	Abnormal respiratory system morphology	3953	LEPR	ORPHA:179494
HP:0012252	Abnormal respiratory system morphology	920	CD4	OMIM:619238
HP:0012252	Abnormal respiratory system morphology	3570	IL6R	OMIM:618944
HP:0012252	Abnormal respiratory system morphology	6050	RNH1	OMIM:620461
HP:0012252	Abnormal respiratory system morphology	2799	GNS	OMIM:252940
HP:0012252	Abnormal respiratory system morphology	23247	KATNIP	OMIM:616784
HP:0012252	Abnormal respiratory system morphology	138050	HGSNAT	OMIM:252930
HP:0012252	Abnormal respiratory system morphology	2542	SLC37A4	OMIM:232240
HP:0012252	Abnormal respiratory system morphology	7388	UQCRH	OMIM:620137
HP:0012252	Abnormal respiratory system morphology	4669	NAGLU	OMIM:252920
HP:0012252	Abnormal respiratory system morphology	54808	DYM	ORPHA:239
HP:0012252	Abnormal respiratory system morphology	83844	USP26	OMIM:301101
HP:0012252	Abnormal respiratory system morphology	139818	DOCK11	OMIM:301109
HP:0012252	Abnormal respiratory system morphology	3588	IL10RB	OMIM:612567
HP:0012252	Abnormal respiratory system morphology	6901	TAFAZZIN	OMIM:302060
HP:0012252	Abnormal respiratory system morphology	64864	RFX7	OMIM:620330
HP:0012252	Abnormal respiratory system morphology	9839	ZEB2	ORPHA:261537
HP:0012252	Abnormal respiratory system morphology	9839	ZEB2	ORPHA:261552
HP:0012252	Abnormal respiratory system morphology	4286	MITF	ORPHA:895
HP:0012252	Abnormal respiratory system morphology	7299	TYR	ORPHA:895
HP:0012252	Abnormal respiratory system morphology	6591	SNAI2	ORPHA:895
HP:0012252	Abnormal respiratory system morphology	1910	EDNRB	ORPHA:895
HP:0012252	Abnormal respiratory system morphology	4254	KITLG	ORPHA:895
HP:0012252	Abnormal respiratory system morphology	6663	SOX10	ORPHA:895
HP:0012252	Abnormal respiratory system morphology	145173	B3GLCT	ORPHA:709
HP:0012252	Abnormal respiratory system morphology	5080	PAX6	ORPHA:1065
HP:0012252	Abnormal respiratory system morphology	3708	ITPR1	ORPHA:1065
HP:0012252	Abnormal respiratory system morphology	55109	AGGF1	ORPHA:90308
HP:0012252	Abnormal respiratory system morphology	5290	PIK3CA	ORPHA:90308
HP:0012252	Abnormal respiratory system morphology	5781	PTPN11	ORPHA:500
HP:0012252	Abnormal respiratory system morphology	673	BRAF	ORPHA:500
HP:0012252	Abnormal respiratory system morphology	5894	RAF1	ORPHA:500
HP:0012252	Abnormal respiratory system morphology	9968	MED12	OMIM:301068
HP:0012252	Abnormal respiratory system morphology	81031	SLC2A10	OMIM:208050
HP:0012252	Abnormal respiratory system morphology	81031	SLC2A10	ORPHA:3342
HP:0012252	Abnormal respiratory system morphology	1272	CNTN1	OMIM:612540
HP:0012252	Abnormal respiratory system morphology	10082	GPC6	OMIM:258315
HP:0012252	Abnormal respiratory system morphology	9487	PIGL	OMIM:280000
HP:0012252	Abnormal respiratory system morphology	64919	BCL11B	OMIM:617237
HP:0012252	Abnormal respiratory system morphology	57514	ARHGAP31	OMIM:100300
HP:0012252	Abnormal respiratory system morphology	22800	RRAS2	ORPHA:648
HP:0012252	Abnormal respiratory system morphology	6237	RRAS	ORPHA:648
HP:0012252	Abnormal respiratory system morphology	22808	MRAS	ORPHA:648
HP:0012252	Abnormal respiratory system morphology	200734	SPRED2	ORPHA:648
HP:0012252	Abnormal respiratory system morphology	6654	SOS1	ORPHA:648
HP:0012252	Abnormal respiratory system morphology	6655	SOS2	ORPHA:648
HP:0012252	Abnormal respiratory system morphology	5922	RASA2	ORPHA:648
HP:0012252	Abnormal respiratory system morphology	92002	CCNQ	ORPHA:140952
HP:0012252	Abnormal respiratory system morphology	26146	TRAF3IP1	OMIM:616629
HP:0012252	Abnormal respiratory system morphology	9898	UBAP2L	OMIM:620494
HP:0012252	Abnormal respiratory system morphology	9509	ADAMTS2	OMIM:225410
HP:0012252	Abnormal respiratory system morphology	57731	SPTBN4	OMIM:617519
HP:0012252	Abnormal respiratory system morphology	171019	ADAMTS19	OMIM:620067
HP:0012252	Abnormal respiratory system morphology	2303	FOXC2	ORPHA:33001
HP:0012252	Abnormal respiratory system morphology	64840	PORCN	ORPHA:2092
HP:0012252	Abnormal respiratory system morphology	5337	PLD1	OMIM:212093
HP:0012252	Abnormal respiratory system morphology	78987	CRELD1	OMIM:606217
HP:0012252	Abnormal respiratory system morphology	84231	TRAF7	OMIM:618164
HP:0012252	Abnormal respiratory system morphology	2324	FLT4	OMIM:618780
HP:0012252	Abnormal respiratory system morphology	93	ACVR2B	OMIM:613751
HP:0012252	Abnormal respiratory system morphology	23476	BRD4	OMIM:620568
HP:0012252	Abnormal respiratory system morphology	118856	MMP21	OMIM:616749
HP:0012252	Abnormal respiratory system morphology	8772	FADD	OMIM:613759
HP:0012252	Abnormal respiratory system morphology	8772	FADD	ORPHA:306550
HP:0012252	Abnormal respiratory system morphology	55593	OTUD5	OMIM:301056
HP:0012252	Abnormal respiratory system morphology	1857	DVL3	OMIM:616894
HP:0012252	Abnormal respiratory system morphology	168507	PKD1L1	OMIM:617205
HP:0012252	Abnormal respiratory system morphology	100128908	CIROP	OMIM:619702
HP:0012252	Abnormal respiratory system morphology	118924	FRA10AC1	OMIM:620113
HP:0012252	Abnormal respiratory system morphology	3516	RBPJ	ORPHA:974
HP:0012252	Abnormal respiratory system morphology	4851	NOTCH1	ORPHA:974
HP:0012252	Abnormal respiratory system morphology	57572	DOCK6	ORPHA:974
HP:0012252	Abnormal respiratory system morphology	285203	EOGT	ORPHA:974
HP:0012252	Abnormal respiratory system morphology	54567	DLL4	ORPHA:974
HP:0012252	Abnormal respiratory system morphology	633	BGN	OMIM:300989
HP:0012252	Abnormal respiratory system morphology	10491	CRTAP	OMIM:610682
HP:0012252	Abnormal respiratory system morphology	55181	SMG8	OMIM:619268
HP:0012252	Abnormal respiratory system morphology	182	JAG1	OMIM:617992
HP:0012252	Abnormal respiratory system morphology	182	JAG1	OMIM:118450
HP:0012252	Abnormal respiratory system morphology	84720	PIGO	OMIM:614749
HP:0012252	Abnormal respiratory system morphology	112752	IFT43	OMIM:614099
HP:0012252	Abnormal respiratory system morphology	9652	SKIC3	ORPHA:84064
HP:0012252	Abnormal respiratory system morphology	6499	SKIC2	ORPHA:84064
HP:0012252	Abnormal respiratory system morphology	5500	PPP1CB	OMIM:617506
HP:0012252	Abnormal respiratory system morphology	51085	MLXIPL	OMIM:194050
HP:0012252	Abnormal respiratory system morphology	4625	MYH7	OMIM:613426
HP:0012252	Abnormal respiratory system morphology	6210	RPS15A	OMIM:618313
HP:0012252	Abnormal respiratory system morphology	123606	NIPA1	ORPHA:261183
HP:0012252	Abnormal respiratory system morphology	7283	TUBG1	ORPHA:261183
HP:0012252	Abnormal respiratory system morphology	81614	NIPA2	ORPHA:261183
HP:0012252	Abnormal respiratory system morphology	998	CDC42	ORPHA:487796
HP:0012252	Abnormal respiratory system morphology	220136	CFAP53	OMIM:614779
HP:0012252	Abnormal respiratory system morphology	2255	FGF10	ORPHA:2363
HP:0012252	Abnormal respiratory system morphology	51135	IRAK4	ORPHA:70592
HP:0012252	Abnormal respiratory system morphology	7037	TFRC	OMIM:616740
HP:0012252	Abnormal respiratory system morphology	56259	CTNNBL1	OMIM:619846
HP:0012252	Abnormal respiratory system morphology	3759	KCNJ2	OMIM:170390
HP:0012252	Abnormal respiratory system morphology	9526	MPDU1	ORPHA:79323
HP:0012252	Abnormal respiratory system morphology	3115	HLA-DPB1	ORPHA:133
HP:0012252	Abnormal respiratory system morphology	2314	FLII	ORPHA:819
HP:0012252	Abnormal respiratory system morphology	23096	IQSEC2	ORPHA:819
HP:0012252	Abnormal respiratory system morphology	10743	RAI1	ORPHA:819
HP:0012252	Abnormal respiratory system morphology	10743	RAI1	OMIM:182290
HP:0012252	Abnormal respiratory system morphology	10522	DEAF1	ORPHA:819
HP:0012252	Abnormal respiratory system morphology	8565	YARS1	OMIM:619418
HP:0012252	Abnormal respiratory system morphology	729230	CCR2	OMIM:219600
HP:0012252	Abnormal respiratory system morphology	826	CAPNS1	OMIM:620777
HP:0012252	Abnormal respiratory system morphology	7428	VHL	OMIM:193300
HP:0012252	Abnormal respiratory system morphology	5621	PRNP	ORPHA:466
HP:0012252	Abnormal respiratory system morphology	686	BTD	ORPHA:79241
HP:0012252	Abnormal respiratory system morphology	6872	TAF1	ORPHA:53351
HP:0012252	Abnormal respiratory system morphology	5896	RAG1	ORPHA:231154
HP:0012252	Abnormal respiratory system morphology	50943	FOXP3	ORPHA:37042
HP:0012252	Abnormal respiratory system morphology	5336	PLCG2	OMIM:614878
HP:0012252	Abnormal respiratory system morphology	3055	HCK	OMIM:620296
HP:0012252	Abnormal respiratory system morphology	1438	CSF2RA	OMIM:300770
HP:0012252	Abnormal respiratory system morphology	1439	CSF2RB	OMIM:614370
HP:0012252	Abnormal respiratory system morphology	9508	ADAMTS3	ORPHA:2136
HP:0012252	Abnormal respiratory system morphology	25	ABL1	OMIM:617602
HP:0012252	Abnormal respiratory system morphology	9056	SLC7A7	ORPHA:470
HP:0012252	Abnormal respiratory system morphology	8943	AP3D1	OMIM:617050
HP:0012252	Abnormal respiratory system morphology	6609	SMPD1	ORPHA:77293
HP:0012252	Abnormal respiratory system morphology	6609	SMPD1	OMIM:607616
HP:0012252	Abnormal respiratory system morphology	2629	GBA1	ORPHA:2072
HP:0012252	Abnormal respiratory system morphology	2629	GBA1	ORPHA:77261
HP:0012252	Abnormal respiratory system morphology	2629	GBA1	ORPHA:77260
HP:0012252	Abnormal respiratory system morphology	2629	GBA1	OMIM:230800
HP:0012252	Abnormal respiratory system morphology	2629	GBA1	ORPHA:77259
HP:0012252	Abnormal respiratory system morphology	4141	MARS1	ORPHA:401835
HP:0012252	Abnormal respiratory system morphology	4141	MARS1	OMIM:615486
HP:0012252	Abnormal respiratory system morphology	2193	FARSA	OMIM:619013
HP:0012252	Abnormal respiratory system morphology	21	ABCA3	ORPHA:217563
HP:0012252	Abnormal respiratory system morphology	21	ABCA3	ORPHA:2032
HP:0012252	Abnormal respiratory system morphology	6439	SFTPB	ORPHA:217563
HP:0012252	Abnormal respiratory system morphology	6440	SFTPC	ORPHA:2032
HP:0012252	Abnormal respiratory system morphology	729238	SFTPA2	ORPHA:2032
HP:0012252	Abnormal respiratory system morphology	79991	STN1	ORPHA:2032
HP:0012252	Abnormal respiratory system morphology	653509	SFTPA1	ORPHA:2032
HP:0012252	Abnormal respiratory system morphology	1832	DSP	ORPHA:2032
HP:0012252	Abnormal respiratory system morphology	727897	MUC5B	ORPHA:2032
HP:0012252	Abnormal respiratory system morphology	10144	FAM13A	ORPHA:2032
HP:0012252	Abnormal respiratory system morphology	23250	ATP11A	ORPHA:2032
HP:0012252	Abnormal respiratory system morphology	91039	DPP9	ORPHA:2032
HP:0012252	Abnormal respiratory system morphology	3675	ITGA3	OMIM:614748
HP:0012252	Abnormal respiratory system morphology	7080	NKX2-1	ORPHA:209905
HP:0012252	Abnormal respiratory system morphology	57169	ZNFX1	OMIM:619644
HP:0012252	Abnormal respiratory system morphology	1314	COPA	OMIM:616414
HP:0012252	Abnormal respiratory system morphology	6813	STXBP2	OMIM:613101
HP:0012252	Abnormal respiratory system morphology	5062	PAK2	OMIM:618458
HP:0012252	Abnormal respiratory system morphology	165918	RNF168	ORPHA:420741
HP:0012252	Abnormal respiratory system morphology	10551	AGR2	OMIM:620233
HP:0012252	Abnormal respiratory system morphology	950	SCARB2	ORPHA:77259
HP:0012252	Abnormal respiratory system morphology	3476	IGBP1	OMIM:300472
HP:0012252	Abnormal respiratory system morphology	2137	EXTL3	ORPHA:508533
HP:0012252	Abnormal respiratory system morphology	2137	EXTL3	OMIM:617425
HP:0012252	Abnormal respiratory system morphology	3763	KCNJ6	ORPHA:435628
HP:0012252	Abnormal respiratory system morphology	3763	KCNJ6	OMIM:614098
HP:0012252	Abnormal respiratory system morphology	5351	PLOD1	OMIM:225400
HP:0012252	Abnormal respiratory system morphology	5351	PLOD1	ORPHA:1900
HP:0012252	Abnormal respiratory system morphology	11133	KPTN	OMIM:615637
HP:0012252	Abnormal respiratory system morphology	11133	KPTN	ORPHA:397612
HP:0012252	Abnormal respiratory system morphology	57539	WDR35	OMIM:613610
HP:0012252	Abnormal respiratory system morphology	81857	MED25	OMIM:616449
HP:0012252	Abnormal respiratory system morphology	81857	MED25	ORPHA:464738
HP:0012252	Abnormal respiratory system morphology	100151683	RNU4ATAC	ORPHA:353298
HP:0012252	Abnormal respiratory system morphology	100151683	RNU4ATAC	OMIM:616651
HP:0012252	Abnormal respiratory system morphology	1302	COL11A2	OMIM:215150
HP:0012252	Abnormal respiratory system morphology	4522	MTHFD1	OMIM:617780
HP:0012252	Abnormal respiratory system morphology	939	CD27	OMIM:615122
HP:0012252	Abnormal respiratory system morphology	23149	FCHO1	OMIM:619164
HP:0012252	Abnormal respiratory system morphology	10157	AASS	ORPHA:2203
HP:0012252	Abnormal respiratory system morphology	56246	MRAP	OMIM:607398
HP:0012252	Abnormal respiratory system morphology	6904	TBCD	ORPHA:496641
HP:0012252	Abnormal respiratory system morphology	4001	LMNB1	OMIM:619179
HP:0012252	Abnormal respiratory system morphology	7084	TK2	ORPHA:254875
HP:0012252	Abnormal respiratory system morphology	3952	LEP	OMIM:614962
HP:0012252	Abnormal respiratory system morphology	6786	STIM1	OMIM:612783
HP:0012252	Abnormal respiratory system morphology	8792	TNFRSF11A	OMIM:612301
HP:0012252	Abnormal respiratory system morphology	10095	ARPC1B	OMIM:617718
HP:0012252	Abnormal respiratory system morphology	1053	CEBPE	OMIM:245480
HP:0012252	Abnormal respiratory system morphology	54681	P4HTM	OMIM:618493
HP:0012252	Abnormal respiratory system morphology	2328	FMO3	OMIM:602079
HP:0012252	Abnormal respiratory system morphology	2588	GALNS	OMIM:253000
HP:0012252	Abnormal respiratory system morphology	718	C3	OMIM:613779
HP:0012252	Abnormal respiratory system morphology	5971	RELB	OMIM:617585
HP:0012252	Abnormal respiratory system morphology	5317	PKP1	ORPHA:158668
HP:0012252	Abnormal respiratory system morphology	54941	RNF125	OMIM:616260
HP:0012252	Abnormal respiratory system morphology	3423	IDS	OMIM:309900
HP:0012252	Abnormal respiratory system morphology	5879	RAC1	OMIM:617751
HP:0012252	Abnormal respiratory system morphology	5879	RAC1	ORPHA:500159
HP:0012252	Abnormal respiratory system morphology	6603	SMARCD2	OMIM:617475
HP:0012252	Abnormal respiratory system morphology	10747	MASP2	OMIM:613791
HP:0012252	Abnormal respiratory system morphology	84466	MEGF10	OMIM:620249
HP:0012252	Abnormal respiratory system morphology	284119	CAVIN1	OMIM:613327
HP:0012252	Abnormal respiratory system morphology	871	SERPINH1	OMIM:613848
HP:0012252	Abnormal respiratory system morphology	5813	PURA	ORPHA:314655
HP:0012252	Abnormal respiratory system morphology	28956	LAMTOR2	OMIM:610798
HP:0012252	Abnormal respiratory system morphology	28956	LAMTOR2	ORPHA:90023
HP:0012252	Abnormal respiratory system morphology	404672	GTF2H5	ORPHA:33364
HP:0012252	Abnormal respiratory system morphology	833	CARS1	ORPHA:33364
HP:0012252	Abnormal respiratory system morphology	2068	ERCC2	ORPHA:33364
HP:0012252	Abnormal respiratory system morphology	7737	RNF113A	ORPHA:33364
HP:0012252	Abnormal respiratory system morphology	136647	MPLKIP	ORPHA:33364
HP:0012252	Abnormal respiratory system morphology	6897	TARS1	ORPHA:33364
HP:0012252	Abnormal respiratory system morphology	16	AARS1	ORPHA:33364
HP:0012252	Abnormal respiratory system morphology	2071	ERCC3	ORPHA:33364
HP:0012252	Abnormal respiratory system morphology	2961	GTF2E2	ORPHA:33364
HP:0012252	Abnormal respiratory system morphology	54487	DGCR8	OMIM:192430
HP:0012252	Abnormal respiratory system morphology	8214	DGCR6	OMIM:192430
HP:0012252	Abnormal respiratory system morphology	8220	ESS2	OMIM:192430
HP:0012252	Abnormal respiratory system morphology	9993	DGCR2	OMIM:192430
HP:0012252	Abnormal respiratory system morphology	9851	KIAA0753	ORPHA:474
HP:0012252	Abnormal respiratory system morphology	55112	DYNC2I1	ORPHA:474
HP:0012252	Abnormal respiratory system morphology	26160	IFT172	ORPHA:474
HP:0012252	Abnormal respiratory system morphology	153241	CEP120	ORPHA:474
HP:0012252	Abnormal respiratory system morphology	57560	IFT80	ORPHA:474
HP:0012252	Abnormal respiratory system morphology	79659	DYNC2H1	ORPHA:474
HP:0012252	Abnormal respiratory system morphology	57728	WDR19	ORPHA:474
HP:0012252	Abnormal respiratory system morphology	79809	TTC21B	ORPHA:474
HP:0012252	Abnormal respiratory system morphology	59341	TRPV4	ORPHA:2635
HP:0012252	Abnormal respiratory system morphology	2261	FGFR3	ORPHA:1860
HP:0012252	Abnormal respiratory system morphology	2261	FGFR3	ORPHA:93274
HP:0012252	Abnormal respiratory system morphology	2317	FLNB	ORPHA:1263
HP:0012252	Abnormal respiratory system morphology	3239	HOXD13	ORPHA:887
HP:0012252	Abnormal respiratory system morphology	4281	MID1	OMIM:300000
HP:0012252	Abnormal respiratory system morphology	23347	SMCHD1	OMIM:603457
HP:0012252	Abnormal respiratory system morphology	9775	EIF4A3	OMIM:268305
HP:0012252	Abnormal respiratory system morphology	22858	CILK1	OMIM:612651
HP:0012252	Abnormal respiratory system morphology	27152	INTU	OMIM:617925
HP:0012252	Abnormal respiratory system morphology	6650	CAPN15	OMIM:619318
HP:0012252	Abnormal respiratory system morphology	1906	EDN1	OMIM:615706
HP:0012252	Abnormal respiratory system morphology	55294	FBXW7	OMIM:620012
HP:0012252	Abnormal respiratory system morphology	55023	PHIP	OMIM:617991
HP:0012252	Abnormal respiratory system morphology	6711	SPTBN1	OMIM:619475
HP:0012252	Abnormal respiratory system morphology	26005	C2CD3	OMIM:615948
HP:0012252	Abnormal respiratory system morphology	26005	C2CD3	ORPHA:434179
HP:0012252	Abnormal respiratory system morphology	5745	PTH1R	OMIM:215045
HP:0012252	Abnormal respiratory system morphology	8295	TRRAP	OMIM:618454
HP:0012252	Abnormal respiratory system morphology	23065	EMC1	OMIM:616875
HP:0012252	Abnormal respiratory system morphology	23065	EMC1	ORPHA:480898
HP:0012252	Abnormal respiratory system morphology	10736	SIX2	ORPHA:488437
HP:0012252	Abnormal respiratory system morphology	8092	ALX1	ORPHA:306542
HP:0012252	Abnormal respiratory system morphology	199857	ALG14	OMIM:619036
HP:0012252	Abnormal respiratory system morphology	867	CBL	OMIM:613563
HP:0012252	Abnormal respiratory system morphology	5921	RASA1	ORPHA:137667
HP:0012252	Abnormal respiratory system morphology	2304	FOXE1	OMIM:241850
HP:0012252	Abnormal respiratory system morphology	1718	DHCR24	ORPHA:35107
HP:0012252	Abnormal respiratory system morphology	6910	TBX5	ORPHA:392
HP:0012252	Abnormal respiratory system morphology	473	RERE	OMIM:616975
HP:0012252	Abnormal respiratory system morphology	134701	RIPPLY2	ORPHA:2311
HP:0012252	Abnormal respiratory system morphology	3955	LFNG	ORPHA:2311
HP:0012252	Abnormal respiratory system morphology	84667	HES7	ORPHA:2311
HP:0012252	Abnormal respiratory system morphology	54916	TMEM260	OMIM:617478
HP:0012252	Abnormal respiratory system morphology	54361	WNT4	OMIM:611812
HP:0012252	Abnormal respiratory system morphology	7840	ALMS1	ORPHA:64
HP:0012252	Abnormal respiratory system morphology	5580	PRKCD	OMIM:615559
HP:0012252	Abnormal respiratory system morphology	54499	TMCO1	OMIM:213980
HP:0012252	Abnormal respiratory system morphology	51816	ADA2	OMIM:615688
HP:0012252	Abnormal respiratory system morphology	10625	IVNS1ABP	OMIM:618969
HP:0012252	Abnormal respiratory system morphology	4194	MDM4	OMIM:618849
HP:0012252	Abnormal respiratory system morphology	29110	TBK1	OMIM:620880
HP:0012252	Abnormal respiratory system morphology	721	C4B	OMIM:614379
HP:0012252	Abnormal respiratory system morphology	5696	PSMB8	OMIM:256040
HP:0012252	Abnormal respiratory system morphology	8517	IKBKG	ORPHA:98813
HP:0012252	Abnormal respiratory system morphology	326	AIRE	OMIM:240300
HP:0012252	Abnormal respiratory system morphology	79645	CLXN	OMIM:620642
HP:0012252	Abnormal respiratory system morphology	146845	CFAP52	OMIM:619607
HP:0012252	Abnormal respiratory system morphology	25790	CFAP45	OMIM:619608
HP:0012252	Abnormal respiratory system morphology	56171	DNAH7	OMIM:620356
HP:0012252	Abnormal respiratory system morphology	7512	XPNPEP2	ORPHA:100057
HP:0012252	Abnormal respiratory system morphology	2161	F12	OMIM:610618
HP:0012252	Abnormal respiratory system morphology	1147	CHUK	OMIM:613630
HP:0012252	Abnormal respiratory system morphology	5294	PIK3CG	OMIM:619802
HP:0012252	Abnormal respiratory system morphology	9094	UNC119	OMIM:615518
HP:0012252	Abnormal respiratory system morphology	56160	NSMCE3	OMIM:617241
HP:0012252	Abnormal respiratory system morphology	5913	RAPSN	OMIM:616326
HP:0012252	Abnormal respiratory system morphology	2033	EP300	OMIM:180849
HP:0012252	Abnormal respiratory system morphology	1387	CREBBP	OMIM:180849
HP:0012252	Abnormal respiratory system morphology	1503	CTPS1	OMIM:615897
HP:0012252	Abnormal respiratory system morphology	5194	PEX13	OMIM:614885
HP:0012252	Abnormal respiratory system morphology	3458	IFNG	ORPHA:805
HP:0012252	Abnormal respiratory system morphology	3098	HK1	OMIM:618547
HP:0012252	Abnormal respiratory system morphology	7174	TPP2	ORPHA:444463
HP:0012252	Abnormal respiratory system morphology	641	BLM	ORPHA:125
HP:0012252	Abnormal respiratory system morphology	7852	CXCR4	ORPHA:51636
HP:0012252	Abnormal respiratory system morphology	10568	SLC34A2	ORPHA:60025
HP:0012252	Abnormal respiratory system morphology	2934	GSN	ORPHA:85448
HP:0012252	Abnormal respiratory system morphology	6809	STX3	OMIM:619445
HP:0012252	Abnormal respiratory system morphology	2548	GAA	ORPHA:308552
HP:0012252	Abnormal respiratory system morphology	5277	PIGA	OMIM:300868
HP:0012252	Abnormal respiratory system morphology	1794	DOCK2	OMIM:616433
HP:0012252	Abnormal respiratory system morphology	1896	EDA	OMIM:313500
HP:0012252	Abnormal respiratory system morphology	4654	MYOD1	OMIM:618975
HP:0012252	Abnormal respiratory system morphology	1991	ELANE	ORPHA:2686
HP:0012252	Abnormal respiratory system morphology	9990	SLC12A6	OMIM:218000
HP:0012252	Abnormal respiratory system morphology	4758	NEU1	ORPHA:93400
HP:0012252	Abnormal respiratory system morphology	4868	NPHS1	ORPHA:656
HP:0012252	Abnormal respiratory system morphology	23607	CD2AP	ORPHA:656
HP:0012252	Abnormal respiratory system morphology	9688	NUP93	ORPHA:656
HP:0012252	Abnormal respiratory system morphology	4643	MYO1E	ORPHA:656
HP:0012252	Abnormal respiratory system morphology	64423	INF2	ORPHA:656
HP:0012252	Abnormal respiratory system morphology	26130	GAPVD1	ORPHA:656
HP:0012252	Abnormal respiratory system morphology	7490	WT1	ORPHA:656
HP:0012252	Abnormal respiratory system morphology	57122	NUP107	ORPHA:656
HP:0012252	Abnormal respiratory system morphology	51479	ANKFY1	ORPHA:656
HP:0012252	Abnormal respiratory system morphology	54443	ANLN	ORPHA:656
HP:0012252	Abnormal respiratory system morphology	5800	PTPRO	ORPHA:656
HP:0012252	Abnormal respiratory system morphology	286204	CRB2	ORPHA:656
HP:0012252	Abnormal respiratory system morphology	23165	NUP205	ORPHA:656
HP:0012252	Abnormal respiratory system morphology	2013	EMP2	ORPHA:656
HP:0012252	Abnormal respiratory system morphology	79023	NUP37	ORPHA:656
HP:0012252	Abnormal respiratory system morphology	51196	PLCE1	ORPHA:656
HP:0012252	Abnormal respiratory system morphology	79902	NUP85	ORPHA:656
HP:0012252	Abnormal respiratory system morphology	1285	COL4A3	ORPHA:656
HP:0012252	Abnormal respiratory system morphology	396	ARHGDIA	ORPHA:656
HP:0012252	Abnormal respiratory system morphology	79934	COQ8B	ORPHA:656
HP:0012252	Abnormal respiratory system morphology	23279	NUP160	ORPHA:656
HP:0012252	Abnormal respiratory system morphology	9863	MAGI2	ORPHA:656
HP:0012252	Abnormal respiratory system morphology	81	ACTN4	ORPHA:656
HP:0012252	Abnormal respiratory system morphology	7225	TRPC6	ORPHA:656
HP:0012252	Abnormal respiratory system morphology	8542	APOL1	ORPHA:656
HP:0012252	Abnormal respiratory system morphology	54885	TBC1D8B	ORPHA:656
HP:0012252	Abnormal respiratory system morphology	7827	NPHS2	ORPHA:656
HP:0012252	Abnormal respiratory system morphology	83478	ARHGAP24	ORPHA:656
HP:0012252	Abnormal respiratory system morphology	23500	DAAM2	ORPHA:656
HP:0012252	Abnormal respiratory system morphology	5076	PAX2	ORPHA:656
HP:0012252	Abnormal respiratory system morphology	55746	NUP133	ORPHA:656
HP:0012252	Abnormal respiratory system morphology	65055	REEP1	OMIM:620011
HP:0012252	Abnormal respiratory system morphology	5373	PMM2	ORPHA:79318
HP:0012252	Abnormal respiratory system morphology	9342	SNAP29	OMIM:609528
HP:0012252	Abnormal respiratory system morphology	55791	LRIF1	OMIM:619477
HP:0012252	Abnormal respiratory system morphology	54809	SAMD9	OMIM:617053
HP:0012252	Abnormal respiratory system morphology	55037	PTCD3	OMIM:619057
HP:0012252	Abnormal respiratory system morphology	28514	DLL1	ORPHA:220386
HP:0012252	Abnormal respiratory system morphology	28514	DLL1	ORPHA:93926
HP:0012252	Abnormal respiratory system morphology	28514	DLL1	ORPHA:93924
HP:0012252	Abnormal respiratory system morphology	28514	DLL1	ORPHA:93925
HP:0012252	Abnormal respiratory system morphology	10735	STAG2	ORPHA:220386
HP:0012252	Abnormal respiratory system morphology	10735	STAG2	ORPHA:93925
HP:0012252	Abnormal respiratory system morphology	2253	FGF8	ORPHA:220386
HP:0012252	Abnormal respiratory system morphology	2253	FGF8	ORPHA:93926
HP:0012252	Abnormal respiratory system morphology	2253	FGF8	ORPHA:93924
HP:0012252	Abnormal respiratory system morphology	2253	FGF8	ORPHA:93925
HP:0012252	Abnormal respiratory system morphology	8243	SMC1A	ORPHA:220386
HP:0012252	Abnormal respiratory system morphology	6496	SIX3	ORPHA:220386
HP:0012252	Abnormal respiratory system morphology	6496	SIX3	ORPHA:93926
HP:0012252	Abnormal respiratory system morphology	6496	SIX3	ORPHA:93924
HP:0012252	Abnormal respiratory system morphology	6496	SIX3	ORPHA:93925
HP:0012252	Abnormal respiratory system morphology	7050	TGIF1	ORPHA:220386
HP:0012252	Abnormal respiratory system morphology	7050	TGIF1	ORPHA:93926
HP:0012252	Abnormal respiratory system morphology	7050	TGIF1	ORPHA:93924
HP:0012252	Abnormal respiratory system morphology	7050	TGIF1	ORPHA:93925
HP:0012252	Abnormal respiratory system morphology	4838	NODAL	ORPHA:220386
HP:0012252	Abnormal respiratory system morphology	4838	NODAL	ORPHA:93926
HP:0012252	Abnormal respiratory system morphology	4838	NODAL	ORPHA:93924
HP:0012252	Abnormal respiratory system morphology	4838	NODAL	ORPHA:93925
HP:0012252	Abnormal respiratory system morphology	7546	ZIC2	ORPHA:220386
HP:0012252	Abnormal respiratory system morphology	7546	ZIC2	ORPHA:93926
HP:0012252	Abnormal respiratory system morphology	7546	ZIC2	ORPHA:93924
HP:0012252	Abnormal respiratory system morphology	7546	ZIC2	ORPHA:93925
HP:0012252	Abnormal respiratory system morphology	6491	STIL	ORPHA:220386
HP:0012252	Abnormal respiratory system morphology	6491	STIL	ORPHA:93926
HP:0012252	Abnormal respiratory system morphology	6491	STIL	ORPHA:93924
HP:0012252	Abnormal respiratory system morphology	6491	STIL	ORPHA:93925
HP:0012252	Abnormal respiratory system morphology	2619	GAS1	ORPHA:220386
HP:0012252	Abnormal respiratory system morphology	2619	GAS1	ORPHA:93926
HP:0012252	Abnormal respiratory system morphology	2619	GAS1	ORPHA:93924
HP:0012252	Abnormal respiratory system morphology	2619	GAS1	ORPHA:93925
HP:0012252	Abnormal respiratory system morphology	84976	DISP1	ORPHA:220386
HP:0012252	Abnormal respiratory system morphology	84976	DISP1	ORPHA:93926
HP:0012252	Abnormal respiratory system morphology	84976	DISP1	ORPHA:93924
HP:0012252	Abnormal respiratory system morphology	84976	DISP1	ORPHA:93925
HP:0012252	Abnormal respiratory system morphology	2736	GLI2	ORPHA:220386
HP:0012252	Abnormal respiratory system morphology	2736	GLI2	ORPHA:93926
HP:0012252	Abnormal respiratory system morphology	2736	GLI2	ORPHA:93924
HP:0012252	Abnormal respiratory system morphology	2736	GLI2	ORPHA:93925
HP:0012252	Abnormal respiratory system morphology	8928	FOXH1	ORPHA:220386
HP:0012252	Abnormal respiratory system morphology	8928	FOXH1	ORPHA:93926
HP:0012252	Abnormal respiratory system morphology	8928	FOXH1	ORPHA:93924
HP:0012252	Abnormal respiratory system morphology	8928	FOXH1	ORPHA:93925
HP:0012252	Abnormal respiratory system morphology	6997	CRIPTO	ORPHA:220386
HP:0012252	Abnormal respiratory system morphology	6997	CRIPTO	ORPHA:93926
HP:0012252	Abnormal respiratory system morphology	6997	CRIPTO	ORPHA:93924
HP:0012252	Abnormal respiratory system morphology	6997	CRIPTO	ORPHA:93925
HP:0012252	Abnormal respiratory system morphology	5727	PTCH1	ORPHA:220386
HP:0012252	Abnormal respiratory system morphology	5727	PTCH1	ORPHA:93926
HP:0012252	Abnormal respiratory system morphology	5727	PTCH1	ORPHA:93924
HP:0012252	Abnormal respiratory system morphology	5727	PTCH1	ORPHA:93925
HP:0012252	Abnormal respiratory system morphology	50937	CDON	ORPHA:220386
HP:0012252	Abnormal respiratory system morphology	50937	CDON	ORPHA:93926
HP:0012252	Abnormal respiratory system morphology	50937	CDON	ORPHA:93924
HP:0012252	Abnormal respiratory system morphology	50937	CDON	ORPHA:93925
HP:0012252	Abnormal respiratory system morphology	6597	SMARCA4	ORPHA:1465
HP:0012252	Abnormal respiratory system morphology	6598	SMARCB1	ORPHA:1465
HP:0012252	Abnormal respiratory system morphology	8289	ARID1A	ORPHA:1465
HP:0012252	Abnormal respiratory system morphology	5977	DPF2	ORPHA:1465
HP:0012252	Abnormal respiratory system morphology	6601	SMARCC2	ORPHA:1465
HP:0012252	Abnormal respiratory system morphology	6602	SMARCD1	ORPHA:1465
HP:0012252	Abnormal respiratory system morphology	196528	ARID2	ORPHA:1465
HP:0012252	Abnormal respiratory system morphology	6605	SMARCE1	ORPHA:1465
HP:0012252	Abnormal respiratory system morphology	6664	SOX11	ORPHA:1465
HP:0012252	Abnormal respiratory system morphology	133686	NADK2	ORPHA:431361
HP:0012252	Abnormal respiratory system morphology	8398	PLA2G6	ORPHA:35069
HP:0012252	Abnormal respiratory system morphology	5048	PAFAH1B1	ORPHA:95232
HP:0012252	Abnormal respiratory system morphology	526	ATP6V1B2	ORPHA:79500
HP:0012252	Abnormal respiratory system morphology	57465	TBC1D24	ORPHA:79500
HP:0012252	Abnormal respiratory system morphology	7314	UBB	ORPHA:99772
HP:0012252	Abnormal respiratory system morphology	57822	GRHL3	ORPHA:99772
HP:0012252	Abnormal respiratory system morphology	1678	TIMM8A	ORPHA:52368
HP:0012252	Abnormal respiratory system morphology	283446	MYO1H	OMIM:619482
HP:0012252	Abnormal respiratory system morphology	80025	PANK2	ORPHA:216866
HP:0012252	Abnormal respiratory system morphology	92935	MARS2	OMIM:616430
HP:0012252	Abnormal respiratory system morphology	6392	SDHD	OMIM:619167
HP:0012252	Abnormal respiratory system morphology	10342	TFG	ORPHA:90117
HP:0012252	Abnormal respiratory system morphology	23007	PLCH1	ORPHA:93925
HP:0012252	Abnormal respiratory system morphology	2720	GLB1	ORPHA:79255
HP:0012252	Abnormal respiratory system morphology	5340	PLG	OMIM:619360
HP:0012252	Abnormal respiratory system morphology	64711	HS3ST6	OMIM:619367
HP:0012252	Abnormal respiratory system morphology	4292	MLH1	OMIM:158320
HP:0012252	Abnormal respiratory system morphology	4292	MLH1	ORPHA:144
HP:0012252	Abnormal respiratory system morphology	4436	MSH2	OMIM:158320
HP:0012252	Abnormal respiratory system morphology	4436	MSH2	ORPHA:144
HP:0012252	Abnormal respiratory system morphology	4072	EPCAM	ORPHA:144
HP:0012252	Abnormal respiratory system morphology	5395	PMS2	ORPHA:144
HP:0012252	Abnormal respiratory system morphology	2956	MSH6	ORPHA:144
HP:0012252	Abnormal respiratory system morphology	5378	PMS1	ORPHA:144
HP:0012252	Abnormal respiratory system morphology	284654	RSPO1	OMIM:610644
HP:0012252	Abnormal respiratory system morphology	5345	SERPINF2	ORPHA:79
HP:0012252	Abnormal respiratory system morphology	5345	SERPINF2	OMIM:262850
HP:0012252	Abnormal respiratory system morphology	1308	COL17A1	ORPHA:79406
HP:0012252	Abnormal respiratory system morphology	4312	MMP1	ORPHA:79408
HP:0012252	Abnormal respiratory system morphology	1294	COL7A1	ORPHA:79408
HP:0012252	Abnormal respiratory system morphology	1294	COL7A1	ORPHA:79409
HP:0012252	Abnormal respiratory system morphology	1294	COL7A1	ORPHA:79410
HP:0012252	Abnormal respiratory system morphology	1294	COL7A1	ORPHA:79411
HP:0012252	Abnormal respiratory system morphology	158326	FREM1	ORPHA:217266
HP:0012252	Abnormal respiratory system morphology	710	SERPING1	ORPHA:100050
HP:0012252	Abnormal respiratory system morphology	1288	COL4A6	ORPHA:1018
HP:0012252	Abnormal respiratory system morphology	1287	COL4A5	ORPHA:1018
HP:0012252	Abnormal respiratory system morphology	84071	ARMC2	OMIM:618433
HP:0012252	Abnormal respiratory system morphology	3119	HLA-DQB1	ORPHA:930
HP:0012252	Abnormal respiratory system morphology	9244	CRLF1	ORPHA:930
HP:0012252	Abnormal respiratory system morphology	3117	HLA-DQA1	ORPHA:930
HP:0012252	Abnormal respiratory system morphology	4842	NOS1	ORPHA:930
HP:0012252	Abnormal respiratory system morphology	5371	PML	ORPHA:520
HP:0012252	Abnormal respiratory system morphology	5914	RARA	ORPHA:520
HP:0012252	Abnormal respiratory system morphology	81608	FIP1L1	ORPHA:520
HP:0012252	Abnormal respiratory system morphology	54880	BCOR	ORPHA:520
HP:0012252	Abnormal respiratory system morphology	64859	NABP1	ORPHA:520
HP:0012252	Abnormal respiratory system morphology	6777	STAT5B	ORPHA:520
HP:0012252	Abnormal respiratory system morphology	4926	NUMA1	ORPHA:520
HP:0012252	Abnormal respiratory system morphology	7704	ZBTB16	ORPHA:520
HP:0012252	Abnormal respiratory system morphology	79718	TBL1XR1	ORPHA:520
HP:0012252	Abnormal respiratory system morphology	58484	NLRC4	OMIM:616050
HP:0012252	Abnormal respiratory system morphology	846	CASR	OMIM:601198
HP:0012252	Abnormal respiratory system morphology	7259	TSPYL1	OMIM:608800
HP:0012252	Abnormal respiratory system morphology	25978	CHMP2B	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	3178	HNRNPA1	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	8148	TAF15	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	5445	PON2	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	9217	VAPB	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	8878	SQSTM1	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	5630	PRPH	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	55830	GLT8D1	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	755	CFAP410	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	10891	PPARGC1A	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	6647	SOD1	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	10133	OPTN	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	1639	DCTN1	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	9896	FIG4	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	5444	PON1	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	5446	PON3	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	4744	NEFH	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	5216	PFN1	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	54209	TREM2	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	7415	VCP	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	283	ANG	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	23435	TARDBP	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	29978	UBQLN2	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	2733	GLE1	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	2521	FUS	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	6311	ATXN2	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	1610	DAO	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	2066	ERBB4	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	311	ANXA11	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	23025	UNC13A	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	899	CCNF	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	400916	CHCHD10	ORPHA:803
HP:0012252	Abnormal respiratory system morphology	27286	SRPX2	ORPHA:1945
HP:0012252	Abnormal respiratory system morphology	2903	GRIN2A	ORPHA:1945
HP:0012252	Abnormal respiratory system morphology	2566	GABRG2	ORPHA:1945
HP:0012252	Abnormal respiratory system morphology	65992	DDRGK1	ORPHA:93352
HP:0012252	Abnormal respiratory system morphology	415	ARSL	ORPHA:79345
HP:0012252	Abnormal respiratory system morphology	5573	PRKAR1A	ORPHA:1359
HP:0012252	Abnormal respiratory system morphology	50940	PDE11A	ORPHA:1359
HP:0012252	Abnormal respiratory system morphology	84133	ZNRF3	ORPHA:1501
HP:0012252	Abnormal respiratory system morphology	1499	CTNNB1	ORPHA:1501
HP:0012252	Abnormal respiratory system morphology	161742	SPRED1	ORPHA:137605
HP:0012252	Abnormal respiratory system morphology	5002	SLC22A18	OMIM:211980
HP:0012252	Abnormal respiratory system morphology	1956	EGFR	OMIM:211980
HP:0012252	Abnormal respiratory system morphology	5519	PPP2R1B	OMIM:211980
HP:0012252	Abnormal respiratory system morphology	2074	ERCC6	OMIM:211980
HP:0012252	Abnormal respiratory system morphology	1326	MAP3K8	OMIM:211980
HP:0012252	Abnormal respiratory system morphology	5071	PRKN	OMIM:211980
HP:0012252	Abnormal respiratory system morphology	1548	CYP2A6	OMIM:211980
HP:0012252	Abnormal respiratory system morphology	2064	ERBB2	OMIM:211980
HP:0012252	Abnormal respiratory system morphology	659	BMPR2	OMIM:265450
HP:0012252	Abnormal respiratory system morphology	7403	KDM6A	OMIM:147920
HP:0012252	Abnormal respiratory system morphology	29969	MDFIC	OMIM:620014
HP:0012252	Abnormal respiratory system morphology	25981	DNAH1	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	115948	ODAD3	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	54768	HYDIN	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	352909	DNAAF3	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	27148	STK36	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	51314	NME8	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	92749	DRC1	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	54970	TTC12	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	152110	NEK10	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	8481	OFD1	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	2302	FOXJ1	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	221421	RSPH9	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	85478	CCDC65	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	55036	CCDC40	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	51364	ZMYND10	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	64446	DNAI2	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	8382	NME5	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	6674	SPAG1	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	83544	DNAL1	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	89765	RSPH1	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	83538	ODAD4	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	200373	CFAP221	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	374407	DNAJB13	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	55172	DNAAF2	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	161582	DNAAF4	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	2622	GAS8	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	23639	DNAAF11	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	27019	DNAI1	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	345895	RSPH4A	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	54919	DNAAF5	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	6103	RPGR	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	85452	CFAP74	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	93233	ODAD1	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	55130	ODAD2	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	1767	DNAH5	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	83861	RSPH3	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	345643	MCIDAS	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	56683	CFAP298	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	79925	SPEF2	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	10309	CCNO	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	115399	LRRC56	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	139212	DNAAF6	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	123872	DNAAF1	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	85016	CFAP300	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	339829	CCDC39	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	8701	DNAH11	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	1770	DNAH9	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	246176	GAS2L2	ORPHA:244
HP:0012252	Abnormal respiratory system morphology	23405	DICER1	OMIM:618272
HP:0012252	Abnormal respiratory system morphology	6774	STAT3	OMIM:147060
HP:0012252	Abnormal respiratory system morphology	207	AKT1	ORPHA:744
HP:0012252	Abnormal respiratory system morphology	29775	CARD10	OMIM:619632
HP:0012252	Abnormal respiratory system morphology	2202	EFEMP1	OMIM:620780
HP:0012252	Abnormal respiratory system morphology	64324	NSD1	ORPHA:821
HP:0012252	Abnormal respiratory system morphology	10297	APC2	ORPHA:821
HP:0012252	Abnormal respiratory system morphology	2077	ERF	OMIM:617180
HP:0012252	Abnormal respiratory system morphology	5297	PI4KA	OMIM:619708
HP:0012252	Abnormal respiratory system morphology	22861	NLRP1	OMIM:618803
HP:0012252	Abnormal respiratory system morphology	22861	NLRP1	OMIM:617388
HP:0012252	Abnormal respiratory system morphology	91662	NLRP12	OMIM:611762
HP:0012252	Abnormal respiratory system morphology	57545	CC2D2A	OMIM:612284
HP:0012252	Abnormal respiratory system morphology	83871	RAB34	OMIM:620718
HP:0012252	Abnormal respiratory system morphology	60558	GUF1	OMIM:617065
HP:0012252	Abnormal respiratory system morphology	11080	DNAJB4	OMIM:620326
HP:0012252	Abnormal respiratory system morphology	4688	NCF2	OMIM:233710
HP:0012252	Abnormal respiratory system morphology	6772	STAT1	OMIM:614162
HP:0012252	Abnormal respiratory system morphology	1536	CYBB	OMIM:306400
HP:0012252	Abnormal respiratory system morphology	567	B2M	OMIM:241600
HP:0012252	Abnormal respiratory system morphology	23095	KIF1B	OMIM:256700
HP:0012252	Abnormal respiratory system morphology	26834	RNU4-2	OMIM:620851
HP:0012252	Abnormal respiratory system morphology	5604	MAP2K1	ORPHA:389
HP:0012252	Abnormal respiratory system morphology	4893	NRAS	ORPHA:389
HP:0012252	Abnormal respiratory system morphology	10559	SLC35A1	ORPHA:238459
HP:0012252	Abnormal respiratory system morphology	10559	SLC35A1	OMIM:603585
HP:0012252	Abnormal respiratory system morphology	2022	ENG	OMIM:187300
HP:0012252	Abnormal respiratory system morphology	10664	CTCF	ORPHA:363611
HP:0012252	Abnormal respiratory system morphology	3431	SP110	ORPHA:79124
HP:0012252	Abnormal respiratory system morphology	89970	RSPRY1	ORPHA:457395
HP:0012252	Abnormal respiratory system morphology	4854	NOTCH3	ORPHA:2591
HP:0012252	Abnormal respiratory system morphology	5159	PDGFRB	ORPHA:2591
HP:0012252	Abnormal respiratory system morphology	7486	WRN	ORPHA:902
HP:0012252	Abnormal respiratory system morphology	3248	HPGD	ORPHA:2796
HP:0012252	Abnormal respiratory system morphology	6578	SLCO2A1	ORPHA:2796
HP:0012252	Abnormal respiratory system morphology	7373	COL14A1	ORPHA:79501
HP:0012252	Abnormal respiratory system morphology	79719	AAGAB	ORPHA:79501
HP:0012252	Abnormal respiratory system morphology	7157	TP53	ORPHA:524
HP:0012252	Abnormal respiratory system morphology	1029	CDKN2A	ORPHA:524
HP:0012252	Abnormal respiratory system morphology	4193	MDM2	ORPHA:524
HP:0012252	Abnormal respiratory system morphology	11200	CHEK2	ORPHA:524
HP:0012252	Abnormal respiratory system morphology	2130	EWSR1	ORPHA:83469
HP:0012252	Abnormal respiratory system morphology	5925	RB1	OMIM:182280
HP:0012252	Abnormal respiratory system morphology	65998	ZFTA	ORPHA:251636
HP:0012252	Abnormal respiratory system morphology	4665	NAB2	ORPHA:2126
HP:0012252	Abnormal respiratory system morphology	6778	STAT6	ORPHA:2126
HP:0012252	Abnormal respiratory system morphology	6794	STK11	ORPHA:2869
HP:0012252	Abnormal respiratory system morphology	51360	MBTPS2	ORPHA:659
HP:0012252	Abnormal respiratory system morphology	162514	TRPV3	ORPHA:659
HP:0012252	Abnormal respiratory system morphology	64065	PERP	ORPHA:659
HP:0012252	Abnormal respiratory system morphology	5978	REST	ORPHA:654
HP:0012252	Abnormal respiratory system morphology	129563	DIS3L2	ORPHA:654
HP:0012252	Abnormal respiratory system morphology	675	BRCA2	ORPHA:654
HP:0012252	Abnormal respiratory system morphology	9319	TRIP13	ORPHA:654
HP:0012252	Abnormal respiratory system morphology	10155	TRIM28	ORPHA:654
HP:0012252	Abnormal respiratory system morphology	11281	POU6F2	ORPHA:654
HP:0012252	Abnormal respiratory system morphology	2719	GPC3	ORPHA:654
HP:0012252	Abnormal respiratory system morphology	283120	H19	ORPHA:654
HP:0012252	Abnormal respiratory system morphology	9817	KEAP1	ORPHA:276399
HP:0012252	Abnormal respiratory system morphology	10128	LRPPRC	OMIM:220111
HP:0012252	Abnormal respiratory system morphology	137814	NKX2-6	ORPHA:3384
HP:0012252	Abnormal respiratory system morphology	23129	PLXND1	ORPHA:3384
HP:0012252	Abnormal respiratory system morphology	51422	PRKAG2	OMIM:261740
HP:0012252	Abnormal respiratory system morphology	4607	MYBPC3	OMIM:115197
HP:0012252	Abnormal respiratory system morphology	54914	FOCAD	OMIM:619991
HP:0012252	Abnormal respiratory system morphology	8260	NAA10	OMIM:300855
HP:0012252	Abnormal respiratory system morphology	4519	MT-CYB	ORPHA:137675
HP:0012252	Abnormal respiratory system morphology	2321	FLT1	ORPHA:275555
HP:0012252	Abnormal respiratory system morphology	219736	STOX1	ORPHA:275555
HP:0012252	Abnormal respiratory system morphology	10699	CORIN	ORPHA:275555
HP:0012252	Abnormal respiratory system morphology	84665	MYPN	ORPHA:75249
HP:0012252	Abnormal respiratory system morphology	2318	FLNC	ORPHA:75249
HP:0012252	Abnormal respiratory system morphology	7139	TNNT2	ORPHA:75249
HP:0012252	Abnormal respiratory system morphology	7137	TNNI3	ORPHA:75249
HP:0012252	Abnormal respiratory system morphology	10112	KIF20A	ORPHA:75249
HP:0012252	Abnormal respiratory system morphology	2492	FSHR	ORPHA:64739
HP:0012252	Abnormal respiratory system morphology	7276	TTR	OMIM:105210
HP:0012252	Abnormal respiratory system morphology	440275	EIF2AK4	ORPHA:199241
HP:0012252	Abnormal respiratory system morphology	2050	EPHB4	OMIM:617300
HP:0012252	Abnormal respiratory system morphology	3075	CFH	ORPHA:244242
HP:0012252	Abnormal respiratory system morphology	3426	CFI	ORPHA:244242
HP:0012252	Abnormal respiratory system morphology	4179	CD46	ORPHA:244242
HP:0012252	Abnormal respiratory system morphology	101101692	HELLPAR	ORPHA:244242
HP:0012252	Abnormal respiratory system morphology	7841	MOGS	ORPHA:79330
HP:0012252	Abnormal respiratory system morphology	847	CAT	ORPHA:926
HP:0012252	Abnormal respiratory system morphology	4486	MST1R	OMIM:617075
HP:0012252	Abnormal respiratory system morphology	1523	CUX1	OMIM:618330
HP:0012252	Abnormal respiratory system morphology	427	ASAH1	ORPHA:333
HP:0012252	Abnormal respiratory system morphology	126792	B3GALT6	ORPHA:536467
HP:0012252	Abnormal respiratory system morphology	54101	RIPK4	ORPHA:1401
HP:0012252	Abnormal respiratory system morphology	713	C1QB	OMIM:620321
HP:0012252	Abnormal respiratory system morphology	5339	PLEC	ORPHA:254361
HP:0012252	Abnormal respiratory system morphology	374354	NHLRC2	OMIM:618278
HP:0012252	Abnormal respiratory system morphology	7161	TP73	OMIM:619466
HP:0012252	Abnormal respiratory system morphology	4952	OCRL	ORPHA:534
HP:0012252	Abnormal respiratory system morphology	3908	LAMA2	ORPHA:258
HP:0012252	Abnormal respiratory system morphology	5077	PAX3	ORPHA:896
HP:0012252	Abnormal respiratory system morphology	90952	ESAM	OMIM:620371
HP:0012252	Abnormal respiratory system morphology	4247	MGAT2	ORPHA:79329
HP:0012252	Abnormal respiratory system morphology	7374	UNG	OMIM:608106
HP:0012252	Abnormal respiratory system morphology	9782	MATR3	ORPHA:600
HP:0012252	Abnormal respiratory system morphology	353116	RILPL1	ORPHA:98897
HP:0012252	Abnormal respiratory system morphology	10755	GIPC1	ORPHA:98897
HP:0012252	Abnormal respiratory system morphology	29967	LRP12	ORPHA:98897
HP:0012252	Abnormal respiratory system morphology	4125	MAN2B1	ORPHA:309282
HP:0033090	Increased aromatic amino acid level in urine	6999	TDO2	OMIM:600627
HP:0033090	Increased aromatic amino acid level in urine	6898	TAT	OMIM:276600
HP:0033092	Increased urine succinate level	2271	FH	OMIM:606812
HP:0033092	Increased urine succinate level	6341	SCO1	OMIM:619048
HP:0033092	Increased urine succinate level	6576	SLC25A1	OMIM:615182
HP:0033092	Increased urine succinate level	64849	SLC13A3	OMIM:618384
HP:0033093	Increased glutamine family amino acid level in urine	10157	AASS	ORPHA:2203
HP:0033093	Increased glutamine family amino acid level in urine	10157	AASS	OMIM:238700
HP:0033093	Increased glutamine family amino acid level in urine	6519	SLC3A1	OMIM:220100
HP:0033093	Increased glutamine family amino acid level in urine	11136	SLC7A9	OMIM:220100
HP:0033093	Increased glutamine family amino acid level in urine	9056	SLC7A7	ORPHA:470
HP:0033093	Increased glutamine family amino acid level in urine	51601	LIPT1	OMIM:616299
HP:0033095	Increased sulfur amino acid level in urine	444	ASPH	OMIM:601552
HP:0033095	Increased sulfur amino acid level in urine	4552	MTRR	OMIM:236270
HP:0033095	Increased sulfur amino acid level in urine	4524	MTHFR	OMIM:236250
HP:0033095	Increased sulfur amino acid level in urine	4524	MTHFR	ORPHA:395
HP:0033095	Increased sulfur amino acid level in urine	55788	LMBRD1	OMIM:277380
HP:0033095	Increased sulfur amino acid level in urine	3054	HCFC1	OMIM:309541
HP:0033095	Increased sulfur amino acid level in urine	875	CBS	OMIM:236200
HP:0033095	Increased sulfur amino acid level in urine	5826	ABCD4	OMIM:614857
HP:0033095	Increased sulfur amino acid level in urine	4548	MTR	OMIM:250940
HP:0033095	Increased sulfur amino acid level in urine	27249	MMADHC	OMIM:277410
HP:0033095	Increased sulfur amino acid level in urine	5052	PRDX1	OMIM:277400
HP:0033095	Increased sulfur amino acid level in urine	25974	MMACHC	OMIM:277400
HP:0033095	Increased sulfur amino acid level in urine	10157	AASS	ORPHA:2203
HP:0033095	Increased sulfur amino acid level in urine	10157	AASS	OMIM:238700
HP:0033095	Increased sulfur amino acid level in urine	10157	AASS	ORPHA:3124
HP:0033095	Increased sulfur amino acid level in urine	9581	PREPL	OMIM:616224
HP:0033095	Increased sulfur amino acid level in urine	9581	PREPL	ORPHA:163690
HP:0033095	Increased sulfur amino acid level in urine	9581	PREPL	ORPHA:163693
HP:0033095	Increased sulfur amino acid level in urine	6519	SLC3A1	OMIM:220100
HP:0033095	Increased sulfur amino acid level in urine	6519	SLC3A1	ORPHA:163690
HP:0033095	Increased sulfur amino acid level in urine	6519	SLC3A1	ORPHA:163693
HP:0033095	Increased sulfur amino acid level in urine	11136	SLC7A9	OMIM:220100
HP:0033095	Increased sulfur amino acid level in urine	5495	PPM1B	ORPHA:163693
HP:0033095	Increased sulfur amino acid level in urine	79823	CAMKMT	ORPHA:163693
HP:0033096	Increased aspartate family amino acid level in urine	3000	GUCY2D	OMIM:204000
HP:0033096	Increased aspartate family amino acid level in urine	9056	SLC7A7	OMIM:222700
HP:0033096	Increased aspartate family amino acid level in urine	9056	SLC7A7	ORPHA:470
HP:0033096	Increased aspartate family amino acid level in urine	6519	SLC3A1	OMIM:220100
HP:0033096	Increased aspartate family amino acid level in urine	11136	SLC7A9	OMIM:220100
HP:0033096	Increased aspartate family amino acid level in urine	133686	NADK2	OMIM:616034
HP:0033096	Increased aspartate family amino acid level in urine	10157	AASS	ORPHA:2203
HP:0033096	Increased aspartate family amino acid level in urine	10157	AASS	OMIM:238700
HP:0033096	Increased aspartate family amino acid level in urine	10157	AASS	ORPHA:3124
HP:0033096	Increased aspartate family amino acid level in urine	6505	SLC1A1	OMIM:222730
HP:0033097	Increased urine proteinogenic amino acid derivative level	10243	GPHN	OMIM:615501
HP:0033097	Increased urine proteinogenic amino acid derivative level	4337	MOCS1	OMIM:252150
HP:0033097	Increased urine proteinogenic amino acid derivative level	4338	MOCS2	OMIM:252160
HP:0033097	Increased urine proteinogenic amino acid derivative level	435	ASL	ORPHA:23
HP:0033097	Increased urine proteinogenic amino acid derivative level	10165	SLC25A13	OMIM:603471
HP:0033097	Increased urine proteinogenic amino acid derivative level	85007	PHYKPL	OMIM:615011
HP:0033097	Increased urine proteinogenic amino acid derivative level	26873	OPLAH	OMIM:260005
HP:0033097	Increased urine proteinogenic amino acid derivative level	2937	GSS	OMIM:266130
HP:0033097	Increased urine proteinogenic amino acid derivative level	2937	GSS	OMIM:231900
HP:0033097	Increased urine proteinogenic amino acid derivative level	3712	IVD	OMIM:243500
HP:0033097	Increased urine proteinogenic amino acid derivative level	38	ACAT1	OMIM:203750
HP:0033097	Increased urine proteinogenic amino acid derivative level	3034	HAL	OMIM:235800
HP:0033098	Increased urinary non-proteinogenic amino acid level	4982	TNFRSF11B	OMIM:239000
HP:0033098	Increased urinary non-proteinogenic amino acid level	8792	TNFRSF11A	OMIM:602080
HP:0033098	Increased urinary non-proteinogenic amino acid level	8792	TNFRSF11A	OMIM:174810
HP:0033098	Increased urinary non-proteinogenic amino acid level	153201	SLC36A2	OMIM:242600
HP:0033098	Increased urinary non-proteinogenic amino acid level	153201	SLC36A2	ORPHA:42062
HP:0033098	Increased urinary non-proteinogenic amino acid level	5625	PRODH	OMIM:239500
HP:0033098	Increased urinary non-proteinogenic amino acid level	348932	SLC6A18	ORPHA:42062
HP:0033098	Increased urinary non-proteinogenic amino acid level	54716	SLC6A20	ORPHA:42062
HP:0033098	Increased urinary non-proteinogenic amino acid level	340024	SLC6A19	ORPHA:42062
HP:0033098	Increased urinary non-proteinogenic amino acid level	8659	ALDH4A1	ORPHA:79101
HP:0033098	Increased urinary non-proteinogenic amino acid level	8659	ALDH4A1	OMIM:239510
HP:0033098	Increased urinary non-proteinogenic amino acid level	5352	PLOD2	OMIM:609220
HP:0033098	Increased urinary non-proteinogenic amino acid level	1491	CTH	OMIM:219500
HP:0033098	Increased urinary non-proteinogenic amino acid level	1491	CTH	ORPHA:212
HP:0033098	Increased urinary non-proteinogenic amino acid level	55788	LMBRD1	OMIM:277380
HP:0033098	Increased urinary non-proteinogenic amino acid level	5052	PRDX1	OMIM:277400
HP:0033098	Increased urinary non-proteinogenic amino acid level	25974	MMACHC	OMIM:277400
HP:0033098	Increased urinary non-proteinogenic amino acid level	6519	SLC3A1	OMIM:220100
HP:0033098	Increased urinary non-proteinogenic amino acid level	11136	SLC7A9	OMIM:220100
HP:0033098	Increased urinary non-proteinogenic amino acid level	9056	SLC7A7	ORPHA:470
HP:0033098	Increased urinary non-proteinogenic amino acid level	10157	AASS	OMIM:238700
HP:0033098	Increased urinary non-proteinogenic amino acid level	4329	ALDH6A1	OMIM:614105
HP:0033098	Increased urinary non-proteinogenic amino acid level	29958	DMGDH	OMIM:605850
HP:0033098	Increased urinary non-proteinogenic amino acid level	64902	AGXT2	OMIM:210100
HP:0033098	Increased urinary non-proteinogenic amino acid level	200205	IBA57	OMIM:615330
HP:0033098	Increased urinary non-proteinogenic amino acid level	10166	SLC25A15	OMIM:238970
HP:0033098	Increased urinary non-proteinogenic amino acid level	2678	GGT1	OMIM:231950
HP:0033098	Increased urinary non-proteinogenic amino acid level	443	ASPA	OMIM:271900
HP:0033098	Increased urinary non-proteinogenic amino acid level	443	ASPA	ORPHA:314911
HP:0033098	Increased urinary non-proteinogenic amino acid level	64849	SLC13A3	OMIM:618384
HP:0033098	Increased urinary non-proteinogenic amino acid level	4337	MOCS1	OMIM:252150
HP:0033098	Increased urinary non-proteinogenic amino acid level	55526	DHTKD1	OMIM:204750
HP:0033098	Increased urinary non-proteinogenic amino acid level	27247	NFU1	OMIM:605711
HP:0033098	Increased urinary non-proteinogenic amino acid level	3954	LETM1	OMIM:620089
HP:0033098	Increased urinary non-proteinogenic amino acid level	7915	ALDH5A1	OMIM:271980
HP:0033098	Increased urinary non-proteinogenic amino acid level	5053	PAH	OMIM:261600
HP:0033098	Increased urinary non-proteinogenic amino acid level	85007	PHYKPL	OMIM:615011
HP:0033098	Increased urinary non-proteinogenic amino acid level	2729	GCLC	OMIM:230450
HP:0033099	Increased serine family amino acid in urine	2731	GLDC	OMIM:605899
HP:0033099	Increased serine family amino acid in urine	3712	IVD	OMIM:243500
HP:0033099	Increased serine family amino acid in urine	153201	SLC36A2	OMIM:242600
HP:0033099	Increased serine family amino acid in urine	153201	SLC36A2	ORPHA:42062
HP:0033099	Increased serine family amino acid in urine	153201	SLC36A2	OMIM:138500
HP:0033099	Increased serine family amino acid in urine	27247	NFU1	OMIM:605711
HP:0033099	Increased serine family amino acid in urine	348932	SLC6A18	ORPHA:42062
HP:0033099	Increased serine family amino acid in urine	54716	SLC6A20	ORPHA:42062
HP:0033099	Increased serine family amino acid in urine	340024	SLC6A19	ORPHA:42062
HP:0033099	Increased serine family amino acid in urine	34	ACADM	OMIM:201450
HP:0033099	Increased serine family amino acid in urine	5625	PRODH	OMIM:239500
HP:0033099	Increased serine family amino acid in urine	64087	MCCC2	OMIM:210210
HP:0033099	Increased serine family amino acid in urine	132158	GLYCTK	ORPHA:941
HP:0033099	Increased serine family amino acid in urine	8659	ALDH4A1	OMIM:239510
HP:0033099	Increased serine family amino acid in urine	5095	PCCA	OMIM:606054
HP:0033099	Increased serine family amino acid in urine	5096	PCCB	OMIM:606054
HP:0012260	Abnormal central microtubular pair morphology of respiratory motile cilia	221421	RSPH9	OMIM:612650
HP:0012260	Abnormal central microtubular pair morphology of respiratory motile cilia	345895	RSPH4A	OMIM:612649
HP:0012261	Abnormal respiratory motile cilium physiology	8701	DNAH11	OMIM:611884
HP:0012261	Abnormal respiratory motile cilium physiology	83544	DNAL1	OMIM:614017
HP:0012261	Abnormal respiratory motile cilium physiology	51314	NME8	OMIM:610852
HP:0012261	Abnormal respiratory motile cilium physiology	339829	CCDC39	OMIM:613807
HP:0012261	Abnormal respiratory motile cilium physiology	27019	DNAI1	OMIM:244400
HP:0012261	Abnormal respiratory motile cilium physiology	85016	CFAP300	OMIM:618063
HP:0012261	Abnormal respiratory motile cilium physiology	89765	RSPH1	OMIM:615481
HP:0012261	Abnormal respiratory motile cilium physiology	161582	DNAAF4	OMIM:615482
HP:0012261	Abnormal respiratory motile cilium physiology	83861	RSPH3	OMIM:616481
HP:0012261	Abnormal respiratory motile cilium physiology	123872	DNAAF1	OMIM:613193
HP:0012261	Abnormal respiratory motile cilium physiology	54970	TTC12	OMIM:618801
HP:0012261	Abnormal respiratory motile cilium physiology	345895	RSPH4A	OMIM:612649
HP:0012261	Abnormal respiratory motile cilium physiology	352909	DNAAF3	OMIM:606763
HP:0012261	Abnormal respiratory motile cilium physiology	92749	DRC1	OMIM:615294
HP:0012261	Abnormal respiratory motile cilium physiology	10309	CCNO	OMIM:615872
HP:0012261	Abnormal respiratory motile cilium physiology	2622	GAS8	OMIM:616726
HP:0012261	Abnormal respiratory motile cilium physiology	27148	STK36	OMIM:619436
HP:0012261	Abnormal respiratory motile cilium physiology	64446	DNAI2	OMIM:612444
HP:0012261	Abnormal respiratory motile cilium physiology	221421	RSPH9	OMIM:612650
HP:0012261	Abnormal respiratory motile cilium physiology	388389	DNAAF19	OMIM:614679
HP:0012261	Abnormal respiratory motile cilium physiology	1767	DNAH5	OMIM:608644
HP:0012261	Abnormal respiratory motile cilium physiology	85452	CFAP74	OMIM:620197
HP:0012261	Abnormal respiratory motile cilium physiology	55172	DNAAF2	OMIM:612518
HP:0012261	Abnormal respiratory motile cilium physiology	55036	CCDC40	OMIM:613808
HP:0012261	Abnormal respiratory motile cilium physiology	374407	DNAJB13	OMIM:617091
HP:0012261	Abnormal respiratory motile cilium physiology	1770	DNAH9	OMIM:618300
HP:0012261	Abnormal respiratory motile cilium physiology	56683	CFAP298	OMIM:615500
HP:0012261	Abnormal respiratory motile cilium physiology	54919	DNAAF5	OMIM:614874
HP:0012261	Abnormal respiratory motile cilium physiology	51364	ZMYND10	OMIM:615444
HP:0012261	Abnormal respiratory motile cilium physiology	115948	ODAD3	OMIM:616037
HP:0012261	Abnormal respiratory motile cilium physiology	85478	CCDC65	OMIM:615504
HP:0012261	Abnormal respiratory motile cilium physiology	54768	HYDIN	OMIM:608647
HP:0012261	Abnormal respiratory motile cilium physiology	6674	SPAG1	OMIM:615505
HP:0012261	Abnormal respiratory motile cilium physiology	23639	DNAAF11	OMIM:614935
HP:0012261	Abnormal respiratory motile cilium physiology	93233	ODAD1	OMIM:615067
HP:0012261	Abnormal respiratory motile cilium physiology	55130	ODAD2	OMIM:615451
HP:0012264	Absent central microtubular pair morphology of respiratory motile cilia	374407	DNAJB13	OMIM:617091
HP:0012264	Absent central microtubular pair morphology of respiratory motile cilia	8382	NME5	OMIM:620032
HP:0012265	Ciliary dyskinesia	27019	DNAI1	OMIM:244400
HP:0012265	Ciliary dyskinesia	92749	DRC1	OMIM:615294
HP:0012265	Ciliary dyskinesia	83861	RSPH3	OMIM:616481
HP:0012265	Ciliary dyskinesia	123872	DNAAF1	OMIM:613193
HP:0012265	Ciliary dyskinesia	55130	ODAD2	OMIM:615451
HP:0012265	Ciliary dyskinesia	10309	CCNO	OMIM:615872
HP:0012265	Ciliary dyskinesia	2622	GAS8	OMIM:616726
HP:0012265	Ciliary dyskinesia	27148	STK36	OMIM:619436
HP:0012265	Ciliary dyskinesia	64446	DNAI2	OMIM:612444
HP:0012265	Ciliary dyskinesia	345895	RSPH4A	OMIM:612649
HP:0012265	Ciliary dyskinesia	54768	HYDIN	OMIM:608647
HP:0012265	Ciliary dyskinesia	89765	RSPH1	OMIM:615481
HP:0012265	Ciliary dyskinesia	161582	DNAAF4	OMIM:615482
HP:0012265	Ciliary dyskinesia	93233	ODAD1	OMIM:615067
HP:0012265	Ciliary dyskinesia	56683	CFAP298	OMIM:615500
HP:0012265	Ciliary dyskinesia	221421	RSPH9	OMIM:612650
HP:0012265	Ciliary dyskinesia	54919	DNAAF5	OMIM:614874
HP:0012265	Ciliary dyskinesia	51364	ZMYND10	OMIM:615444
HP:0012265	Ciliary dyskinesia	115948	ODAD3	OMIM:616037
HP:0012265	Ciliary dyskinesia	85478	CCDC65	OMIM:615504
HP:0012265	Ciliary dyskinesia	388389	DNAAF19	OMIM:614679
HP:0012265	Ciliary dyskinesia	8701	DNAH11	OMIM:611884
HP:0012265	Ciliary dyskinesia	6674	SPAG1	OMIM:615505
HP:0012265	Ciliary dyskinesia	83544	DNAL1	OMIM:614017
HP:0012265	Ciliary dyskinesia	51314	NME8	OMIM:610852
HP:0012265	Ciliary dyskinesia	1767	DNAH5	OMIM:608644
HP:0012265	Ciliary dyskinesia	352909	DNAAF3	OMIM:606763
HP:0012265	Ciliary dyskinesia	23639	DNAAF11	OMIM:614935
HP:0012265	Ciliary dyskinesia	85452	CFAP74	OMIM:620197
HP:0012265	Ciliary dyskinesia	55172	DNAAF2	OMIM:612518
HP:0012265	Ciliary dyskinesia	55036	CCDC40	OMIM:613808
HP:0012265	Ciliary dyskinesia	339829	CCDC39	OMIM:613807
HP:0012266	T-wave alternans	6330	SCN4B	OMIM:611819
HP:0012266	T-wave alternans	801	CALM1	OMIM:616247
HP:0012266	T-wave alternans	808	CALM3	OMIM:618782
HP:0012267	Absent respiratory ciliary axoneme radial spokes	83861	RSPH3	OMIM:616481
HP:0012269	Abnormal muscle glycogen content	2548	GAA	OMIM:232300
HP:0012269	Abnormal muscle glycogen content	5213	PFKM	OMIM:232800
HP:0012269	Abnormal muscle glycogen content	5213	PFKM	ORPHA:371
HP:0012269	Abnormal muscle glycogen content	5257	PHKB	OMIM:261750
HP:0012269	Abnormal muscle glycogen content	4556	MT-TE	ORPHA:254864
HP:0012269	Abnormal muscle glycogen content	55687	TRMU	ORPHA:254864
HP:0012269	Abnormal muscle glycogen content	55154	MSTO1	ORPHA:502423
HP:0012269	Abnormal muscle glycogen content	2027	ENO3	OMIM:612932
HP:0012269	Abnormal muscle glycogen content	5255	PHKA1	ORPHA:715
HP:0012269	Abnormal muscle glycogen content	5255	PHKA1	OMIM:300559
HP:0012269	Abnormal muscle glycogen content	5260	PHKG1	ORPHA:715
HP:0012269	Abnormal muscle glycogen content	5837	PYGM	ORPHA:368
HP:0012269	Abnormal muscle glycogen content	2997	GYS1	OMIM:611556
HP:0012269	Abnormal muscle glycogen content	2992	GYG1	ORPHA:263297
HP:0012269	Abnormal muscle glycogen content	5256	PHKA2	ORPHA:264580
HP:0012269	Abnormal muscle glycogen content	5261	PHKG2	ORPHA:264580
HP:0012262	Abnormal ciliary motility	8701	DNAH11	OMIM:611884
HP:0012262	Abnormal ciliary motility	83544	DNAL1	OMIM:614017
HP:0012262	Abnormal ciliary motility	51314	NME8	OMIM:610852
HP:0012262	Abnormal ciliary motility	339829	CCDC39	OMIM:613807
HP:0012262	Abnormal ciliary motility	27019	DNAI1	OMIM:244400
HP:0012262	Abnormal ciliary motility	85016	CFAP300	OMIM:618063
HP:0012262	Abnormal ciliary motility	89765	RSPH1	OMIM:615481
HP:0012262	Abnormal ciliary motility	161582	DNAAF4	OMIM:615482
HP:0012262	Abnormal ciliary motility	83861	RSPH3	OMIM:616481
HP:0012262	Abnormal ciliary motility	123872	DNAAF1	OMIM:613193
HP:0012262	Abnormal ciliary motility	56683	CFAP298	OMIM:615500
HP:0012262	Abnormal ciliary motility	54919	DNAAF5	OMIM:614874
HP:0012262	Abnormal ciliary motility	51364	ZMYND10	OMIM:615444
HP:0012262	Abnormal ciliary motility	54970	TTC12	OMIM:618801
HP:0012262	Abnormal ciliary motility	345895	RSPH4A	OMIM:612649
HP:0012262	Abnormal ciliary motility	352909	DNAAF3	OMIM:606763
HP:0012262	Abnormal ciliary motility	23639	DNAAF11	OMIM:614935
HP:0012262	Abnormal ciliary motility	92749	DRC1	OMIM:615294
HP:0012262	Abnormal ciliary motility	55130	ODAD2	OMIM:615451
HP:0012262	Abnormal ciliary motility	10309	CCNO	OMIM:615872
HP:0012262	Abnormal ciliary motility	2622	GAS8	OMIM:616726
HP:0012262	Abnormal ciliary motility	27148	STK36	OMIM:619436
HP:0012262	Abnormal ciliary motility	64446	DNAI2	OMIM:612444
HP:0012262	Abnormal ciliary motility	54768	HYDIN	OMIM:608647
HP:0012262	Abnormal ciliary motility	93233	ODAD1	OMIM:615067
HP:0012262	Abnormal ciliary motility	221421	RSPH9	OMIM:612650
HP:0012262	Abnormal ciliary motility	115948	ODAD3	OMIM:616037
HP:0012262	Abnormal ciliary motility	85478	CCDC65	OMIM:615504
HP:0012262	Abnormal ciliary motility	388389	DNAAF19	OMIM:614679
HP:0012262	Abnormal ciliary motility	6674	SPAG1	OMIM:615505
HP:0012262	Abnormal ciliary motility	1767	DNAH5	OMIM:608644
HP:0012262	Abnormal ciliary motility	85452	CFAP74	OMIM:620197
HP:0012262	Abnormal ciliary motility	55172	DNAAF2	OMIM:612518
HP:0012262	Abnormal ciliary motility	55036	CCDC40	OMIM:613808
HP:0012263	Immotile cilia	27019	DNAI1	OMIM:244400
HP:0012263	Immotile cilia	85016	CFAP300	OMIM:618063
HP:0012263	Immotile cilia	89765	RSPH1	OMIM:615481
HP:0012263	Immotile cilia	161582	DNAAF4	OMIM:615482
HP:0012263	Immotile cilia	83861	RSPH3	OMIM:616481
HP:0012263	Immotile cilia	123872	DNAAF1	OMIM:613193
HP:0012263	Immotile cilia	56683	CFAP298	OMIM:615500
HP:0012263	Immotile cilia	54919	DNAAF5	OMIM:614874
HP:0012263	Immotile cilia	51364	ZMYND10	OMIM:615444
HP:0012263	Immotile cilia	54970	TTC12	OMIM:618801
HP:0012263	Immotile cilia	345895	RSPH4A	OMIM:612649
HP:0012263	Immotile cilia	352909	DNAAF3	OMIM:606763
HP:0012263	Immotile cilia	23639	DNAAF11	OMIM:614935
HP:0012270	Decreased muscle glycogen content	2997	GYS1	OMIM:611556
HP:0012270	Decreased muscle glycogen content	2992	GYG1	ORPHA:263297
HP:0012271	Episodic upper airway obstruction	2161	F12	OMIM:610618
HP:0012272	J wave	775	CACNA1C	OMIM:611875
HP:0012275	Autosomal dominant inheritance with maternal imprinting	7681	MKRN3	OMIM:615346
HP:0012275	Autosomal dominant inheritance with maternal imprinting	23189	KANK1	OMIM:612900
HP:0012276	Digital flexor tenosynovitis	7276	TTR	OMIM:115430
HP:0012276	Digital flexor tenosynovitis	3586	IL10	OMIM:180300
HP:0012276	Digital flexor tenosynovitis	6583	SLC22A4	OMIM:180300
HP:0012276	Digital flexor tenosynovitis	26191	PTPN22	OMIM:180300
HP:0012276	Digital flexor tenosynovitis	4261	CIITA	OMIM:180300
HP:0012276	Digital flexor tenosynovitis	51744	CD244	OMIM:180300
HP:0012276	Digital flexor tenosynovitis	4795	NFKBIL1	OMIM:180300
HP:0012277	Hypoglycinemia	29968	PSAT1	OMIM:610992
HP:0012277	Hypoglycinemia	26227	PHGDH	ORPHA:79351
HP:0012278	Abnormal circulating serine concentration	9056	SLC7A7	ORPHA:470
HP:0012278	Abnormal circulating serine concentration	10165	SLC25A13	ORPHA:247598
HP:0012278	Abnormal circulating serine concentration	29968	PSAT1	ORPHA:284417
HP:0012278	Abnormal circulating serine concentration	29968	PSAT1	OMIM:610992
HP:0012278	Abnormal circulating serine concentration	5723	PSPH	ORPHA:79350
HP:0012278	Abnormal circulating serine concentration	5723	PSPH	OMIM:614023
HP:0012278	Abnormal circulating serine concentration	26227	PHGDH	ORPHA:79351
HP:0012279	Hyposerinemia	29968	PSAT1	ORPHA:284417
HP:0012279	Hyposerinemia	29968	PSAT1	OMIM:610992
HP:0012279	Hyposerinemia	5723	PSPH	ORPHA:79350
HP:0012279	Hyposerinemia	5723	PSPH	OMIM:614023
HP:0012279	Hyposerinemia	26227	PHGDH	ORPHA:79351
HP:0012280	Hepatic amyloidosis	4069	LYZ	OMIM:620658
HP:0012280	Hepatic amyloidosis	567	B2M	OMIM:620659
HP:0012280	Hepatic amyloidosis	567	B2M	ORPHA:314652
HP:0012280	Hepatic amyloidosis	9056	SLC7A7	ORPHA:470
HP:0012280	Hepatic amyloidosis	7132	TNFRSF1A	OMIM:142680
HP:0012280	Hepatic amyloidosis	335	APOA1	OMIM:620657
HP:0012282	Morbilliform rash	4598	MVK	OMIM:610377
HP:0012283	Small distal femoral epiphysis	1301	COL11A1	OMIM:154780
HP:0012284	Small proximal tibial epiphyses	1301	COL11A1	OMIM:154780
HP:0012284	Small proximal tibial epiphyses	388015	RTL1	ORPHA:96334
HP:0012284	Small proximal tibial epiphyses	8788	DLK1	ORPHA:96334
HP:0012284	Small proximal tibial epiphyses	55384	MEG3	ORPHA:96334
HP:0012285	Abnormal hypothalamus physiology	3730	ANOS1	OMIM:308700
HP:0012285	Abnormal hypothalamus physiology	3730	ANOS1	ORPHA:478
HP:0012285	Abnormal hypothalamus physiology	79625	NDNF	OMIM:618841
HP:0012285	Abnormal hypothalamus physiology	79625	NDNF	ORPHA:478
HP:0012285	Abnormal hypothalamus physiology	10371	SEMA3A	ORPHA:478
HP:0012285	Abnormal hypothalamus physiology	81848	SPRY4	ORPHA:478
HP:0012285	Abnormal hypothalamus physiology	23767	FLRT3	ORPHA:478
HP:0012285	Abnormal hypothalamus physiology	128674	PROKR2	ORPHA:478
HP:0012285	Abnormal hypothalamus physiology	389549	FEZF1	ORPHA:478
HP:0012285	Abnormal hypothalamus physiology	1630	DCC	ORPHA:478
HP:0012285	Abnormal hypothalamus physiology	54756	IL17RD	ORPHA:478
HP:0012285	Abnormal hypothalamus physiology	6663	SOX10	ORPHA:478
HP:0012285	Abnormal hypothalamus physiology	285025	CCDC141	ORPHA:478
HP:0012285	Abnormal hypothalamus physiology	60675	PROK2	ORPHA:478
HP:0012285	Abnormal hypothalamus physiology	55636	CHD7	ORPHA:478
HP:0012285	Abnormal hypothalamus physiology	1848	DUSP6	ORPHA:478
HP:0012285	Abnormal hypothalamus physiology	6870	TACR3	ORPHA:478
HP:0012285	Abnormal hypothalamus physiology	55717	WDR11	ORPHA:478
HP:0012285	Abnormal hypothalamus physiology	9394	HS6ST1	ORPHA:478
HP:0012285	Abnormal hypothalamus physiology	8820	HESX1	ORPHA:478
HP:0012285	Abnormal hypothalamus physiology	8822	FGF17	ORPHA:478
HP:0012285	Abnormal hypothalamus physiology	7200	TRH	OMIM:275120
HP:0012285	Abnormal hypothalamus physiology	2260	FGFR1	ORPHA:220386
HP:0012285	Abnormal hypothalamus physiology	2260	FGFR1	ORPHA:93924
HP:0012285	Abnormal hypothalamus physiology	28514	DLL1	ORPHA:220386
HP:0012285	Abnormal hypothalamus physiology	28514	DLL1	ORPHA:93926
HP:0012285	Abnormal hypothalamus physiology	28514	DLL1	ORPHA:93924
HP:0012285	Abnormal hypothalamus physiology	28514	DLL1	ORPHA:93925
HP:0012285	Abnormal hypothalamus physiology	10735	STAG2	ORPHA:220386
HP:0012285	Abnormal hypothalamus physiology	10735	STAG2	ORPHA:93925
HP:0012285	Abnormal hypothalamus physiology	2253	FGF8	ORPHA:220386
HP:0012285	Abnormal hypothalamus physiology	2253	FGF8	ORPHA:93926
HP:0012285	Abnormal hypothalamus physiology	2253	FGF8	ORPHA:93924
HP:0012285	Abnormal hypothalamus physiology	2253	FGF8	ORPHA:93925
HP:0012285	Abnormal hypothalamus physiology	8243	SMC1A	ORPHA:220386
HP:0012285	Abnormal hypothalamus physiology	6496	SIX3	ORPHA:220386
HP:0012285	Abnormal hypothalamus physiology	6496	SIX3	ORPHA:93926
HP:0012285	Abnormal hypothalamus physiology	6496	SIX3	ORPHA:93924
HP:0012285	Abnormal hypothalamus physiology	6496	SIX3	ORPHA:93925
HP:0012285	Abnormal hypothalamus physiology	7050	TGIF1	ORPHA:220386
HP:0012285	Abnormal hypothalamus physiology	7050	TGIF1	ORPHA:93926
HP:0012285	Abnormal hypothalamus physiology	7050	TGIF1	ORPHA:93924
HP:0012285	Abnormal hypothalamus physiology	7050	TGIF1	ORPHA:93925
HP:0012285	Abnormal hypothalamus physiology	4838	NODAL	ORPHA:220386
HP:0012285	Abnormal hypothalamus physiology	4838	NODAL	ORPHA:93926
HP:0012285	Abnormal hypothalamus physiology	4838	NODAL	ORPHA:93924
HP:0012285	Abnormal hypothalamus physiology	4838	NODAL	ORPHA:93925
HP:0012285	Abnormal hypothalamus physiology	6469	SHH	ORPHA:220386
HP:0012285	Abnormal hypothalamus physiology	6469	SHH	ORPHA:93926
HP:0012285	Abnormal hypothalamus physiology	6469	SHH	ORPHA:93924
HP:0012285	Abnormal hypothalamus physiology	6469	SHH	ORPHA:93925
HP:0012285	Abnormal hypothalamus physiology	7546	ZIC2	ORPHA:220386
HP:0012285	Abnormal hypothalamus physiology	7546	ZIC2	ORPHA:93926
HP:0012285	Abnormal hypothalamus physiology	7546	ZIC2	ORPHA:93924
HP:0012285	Abnormal hypothalamus physiology	7546	ZIC2	ORPHA:93925
HP:0012285	Abnormal hypothalamus physiology	6491	STIL	ORPHA:220386
HP:0012285	Abnormal hypothalamus physiology	6491	STIL	ORPHA:93926
HP:0012285	Abnormal hypothalamus physiology	6491	STIL	ORPHA:93924
HP:0012285	Abnormal hypothalamus physiology	6491	STIL	ORPHA:93925
HP:0012285	Abnormal hypothalamus physiology	2619	GAS1	ORPHA:220386
HP:0012285	Abnormal hypothalamus physiology	2619	GAS1	ORPHA:93926
HP:0012285	Abnormal hypothalamus physiology	2619	GAS1	ORPHA:93924
HP:0012285	Abnormal hypothalamus physiology	2619	GAS1	ORPHA:93925
HP:0012285	Abnormal hypothalamus physiology	84976	DISP1	ORPHA:220386
HP:0012285	Abnormal hypothalamus physiology	84976	DISP1	ORPHA:93926
HP:0012285	Abnormal hypothalamus physiology	84976	DISP1	ORPHA:93924
HP:0012285	Abnormal hypothalamus physiology	84976	DISP1	ORPHA:93925
HP:0012285	Abnormal hypothalamus physiology	2736	GLI2	ORPHA:220386
HP:0012285	Abnormal hypothalamus physiology	2736	GLI2	ORPHA:93926
HP:0012285	Abnormal hypothalamus physiology	2736	GLI2	ORPHA:93924
HP:0012285	Abnormal hypothalamus physiology	2736	GLI2	ORPHA:93925
HP:0012285	Abnormal hypothalamus physiology	8928	FOXH1	ORPHA:220386
HP:0012285	Abnormal hypothalamus physiology	8928	FOXH1	ORPHA:93926
HP:0012285	Abnormal hypothalamus physiology	8928	FOXH1	ORPHA:93924
HP:0012285	Abnormal hypothalamus physiology	8928	FOXH1	ORPHA:93925
HP:0012285	Abnormal hypothalamus physiology	6997	CRIPTO	ORPHA:220386
HP:0012285	Abnormal hypothalamus physiology	6997	CRIPTO	ORPHA:93926
HP:0012285	Abnormal hypothalamus physiology	6997	CRIPTO	ORPHA:93924
HP:0012285	Abnormal hypothalamus physiology	6997	CRIPTO	ORPHA:93925
HP:0012285	Abnormal hypothalamus physiology	5727	PTCH1	ORPHA:220386
HP:0012285	Abnormal hypothalamus physiology	5727	PTCH1	ORPHA:93926
HP:0012285	Abnormal hypothalamus physiology	5727	PTCH1	ORPHA:93924
HP:0012285	Abnormal hypothalamus physiology	5727	PTCH1	ORPHA:93925
HP:0012285	Abnormal hypothalamus physiology	50937	CDON	ORPHA:220386
HP:0012285	Abnormal hypothalamus physiology	50937	CDON	ORPHA:93926
HP:0012285	Abnormal hypothalamus physiology	50937	CDON	ORPHA:93924
HP:0012285	Abnormal hypothalamus physiology	50937	CDON	ORPHA:93925
HP:0012285	Abnormal hypothalamus physiology	8314	BAP1	ORPHA:2495
HP:0012285	Abnormal hypothalamus physiology	4771	NF2	ORPHA:2495
HP:0012285	Abnormal hypothalamus physiology	6598	SMARCB1	ORPHA:2495
HP:0012285	Abnormal hypothalamus physiology	5155	PDGFB	ORPHA:2495
HP:0012285	Abnormal hypothalamus physiology	84231	TRAF7	ORPHA:2495
HP:0012285	Abnormal hypothalamus physiology	6608	SMO	ORPHA:2495
HP:0012285	Abnormal hypothalamus physiology	207	AKT1	ORPHA:2495
HP:0012285	Abnormal hypothalamus physiology	5290	PIK3CA	ORPHA:2495
HP:0012285	Abnormal hypothalamus physiology	7015	TERT	ORPHA:2495
HP:0012285	Abnormal hypothalamus physiology	51684	SUFU	ORPHA:2495
HP:0012285	Abnormal hypothalamus physiology	6605	SMARCE1	ORPHA:2495
HP:0012285	Abnormal hypothalamus physiology	23007	PLCH1	ORPHA:93925
HP:0012285	Abnormal hypothalamus physiology	6492	SIM1	ORPHA:398079
HP:0012285	Abnormal hypothalamus physiology	54551	MAGEL2	ORPHA:398069
HP:0012285	Abnormal hypothalamus physiology	8022	LHX3	ORPHA:231720
HP:0012287	Hypothalamic luteinizing hormone-releasing hormone deficiency	6492	SIM1	ORPHA:398079
HP:0012287	Hypothalamic luteinizing hormone-releasing hormone deficiency	54551	MAGEL2	ORPHA:398069
HP:0012287	Hypothalamic luteinizing hormone-releasing hormone deficiency	8022	LHX3	ORPHA:231720
HP:0012288	Neoplasm of head and neck	51008	ASCC1	OMIM:614266
HP:0012288	Neoplasm of head and neck	115908	CTHRC1	OMIM:614266
HP:0012288	Neoplasm of head and neck	4481	MSR1	OMIM:614266
HP:0012288	Neoplasm of head and neck	6772	STAT1	ORPHA:391487
HP:0012288	Neoplasm of head and neck	6049	RNF6	ORPHA:99977
HP:0012288	Neoplasm of head and neck	6049	RNF6	OMIM:133239
HP:0012288	Neoplasm of head and neck	7048	TGFBR2	ORPHA:99977
HP:0012288	Neoplasm of head and neck	7048	TGFBR2	OMIM:133239
HP:0012288	Neoplasm of head and neck	51741	WWOX	ORPHA:99977
HP:0012288	Neoplasm of head and neck	51741	WWOX	OMIM:133239
HP:0012288	Neoplasm of head and neck	9940	DLEC1	ORPHA:99977
HP:0012288	Neoplasm of head and neck	324	APC	ORPHA:247806
HP:0012288	Neoplasm of head and neck	324	APC	ORPHA:79665
HP:0012288	Neoplasm of head and neck	11178	LZTS1	OMIM:133239
HP:0012288	Neoplasm of head and neck	1630	DCC	OMIM:133239
HP:0012288	Neoplasm of head and neck	1499	CTNNB1	ORPHA:91414
HP:0012288	Neoplasm of head and neck	2304	FOXE1	ORPHA:319487
HP:0012288	Neoplasm of head and neck	3026	HABP2	ORPHA:319487
HP:0012288	Neoplasm of head and neck	9562	MINPP1	ORPHA:319487
HP:0012288	Neoplasm of head and neck	7157	TP53	ORPHA:524
HP:0012288	Neoplasm of head and neck	1029	CDKN2A	ORPHA:524
HP:0012288	Neoplasm of head and neck	4193	MDM2	ORPHA:524
HP:0012288	Neoplasm of head and neck	11200	CHEK2	ORPHA:524
HP:0012288	Neoplasm of head and neck	5885	RAD21	OMIM:611376
HP:0012288	Neoplasm of head and neck	4629	MYH11	OMIM:619350
HP:0012288	Neoplasm of head and neck	641	BLM	ORPHA:125
HP:0012288	Neoplasm of head and neck	6794	STK11	ORPHA:2869
HP:0012288	Neoplasm of head and neck	79651	RHBDF2	ORPHA:2198
HP:0012288	Neoplasm of head and neck	2271	FH	ORPHA:523
HP:0012288	Neoplasm of head and neck	6389	SDHA	ORPHA:44890
HP:0012288	Neoplasm of head and neck	6390	SDHB	ORPHA:44890
HP:0012288	Neoplasm of head and neck	6391	SDHC	ORPHA:44890
HP:0012288	Neoplasm of head and neck	5156	PDGFRA	ORPHA:44890
HP:0012288	Neoplasm of head and neck	3815	KIT	ORPHA:44890
HP:0012288	Neoplasm of head and neck	5573	PRKAR1A	ORPHA:1359
HP:0012288	Neoplasm of head and neck	50940	PDE11A	ORPHA:1359
HP:0012288	Neoplasm of head and neck	1288	COL4A6	ORPHA:1018
HP:0012288	Neoplasm of head and neck	1287	COL4A5	ORPHA:1018
HP:0012288	Neoplasm of head and neck	7373	COL14A1	ORPHA:79501
HP:0012288	Neoplasm of head and neck	79719	AAGAB	ORPHA:79501
HP:0012289	Facial neoplasm	6794	STK11	ORPHA:2869
HP:0012289	Facial neoplasm	5573	PRKAR1A	ORPHA:1359
HP:0012289	Facial neoplasm	50940	PDE11A	ORPHA:1359
HP:0100649	Neoplasm of the oral cavity	5727	PTCH1	ORPHA:77301
HP:0100649	Neoplasm of the oral cavity	5727	PTCH1	ORPHA:377
HP:0100649	Neoplasm of the oral cavity	5727	PTCH1	OMIM:109400
HP:0100649	Neoplasm of the oral cavity	8643	PTCH2	ORPHA:377
HP:0100649	Neoplasm of the oral cavity	324	APC	OMIM:175100
HP:0100649	Neoplasm of the oral cavity	324	APC	ORPHA:247806
HP:0100649	Neoplasm of the oral cavity	324	APC	ORPHA:79665
HP:0100649	Neoplasm of the oral cavity	2248	FGF3	ORPHA:2791
HP:0100649	Neoplasm of the oral cavity	79659	DYNC2H1	OMIM:613091
HP:0100649	Neoplasm of the oral cavity	4123	MAN2C1	OMIM:619775
HP:0100649	Neoplasm of the oral cavity	65250	CPLANE1	OMIM:277170
HP:0100649	Neoplasm of the oral cavity	65250	CPLANE1	ORPHA:2754
HP:0100649	Neoplasm of the oral cavity	153241	CEP120	OMIM:616300
HP:0100649	Neoplasm of the oral cavity	84314	TMEM107	OMIM:617563
HP:0100649	Neoplasm of the oral cavity	4750	NEK1	OMIM:263520
HP:0100649	Neoplasm of the oral cavity	4750	NEK1	ORPHA:2751
HP:0100649	Neoplasm of the oral cavity	26005	C2CD3	ORPHA:434179
HP:0100649	Neoplasm of the oral cavity	26005	C2CD3	OMIM:615948
HP:0100649	Neoplasm of the oral cavity	9786	KIAA0586	OMIM:616546
HP:0100649	Neoplasm of the oral cavity	83479	DDX59	OMIM:174300
HP:0100649	Neoplasm of the oral cavity	27152	INTU	OMIM:617925
HP:0100649	Neoplasm of the oral cavity	1906	EDN1	ORPHA:137888
HP:0100649	Neoplasm of the oral cavity	5332	PLCB4	ORPHA:137888
HP:0100649	Neoplasm of the oral cavity	2773	GNAI3	ORPHA:137888
HP:0100649	Neoplasm of the oral cavity	51057	WDPCP	OMIM:217085
HP:0100649	Neoplasm of the oral cavity	51057	WDPCP	ORPHA:1338
HP:0100649	Neoplasm of the oral cavity	26123	TCTN3	OMIM:258860
HP:0100649	Neoplasm of the oral cavity	26123	TCTN3	ORPHA:2754
HP:0100649	Neoplasm of the oral cavity	79583	TMEM231	ORPHA:2754
HP:0100649	Neoplasm of the oral cavity	10210	TOPORS	ORPHA:2754
HP:0100649	Neoplasm of the oral cavity	9851	KIAA0753	ORPHA:2754
HP:0100649	Neoplasm of the oral cavity	5147	PDE6D	ORPHA:2754
HP:0100649	Neoplasm of the oral cavity	51259	TMEM216	ORPHA:2754
HP:0100649	Neoplasm of the oral cavity	317662	FAM149B1	ORPHA:2754
HP:0100649	Neoplasm of the oral cavity	374654	KIF7	ORPHA:2754
HP:0100649	Neoplasm of the oral cavity	4194	MDM4	OMIM:618849
HP:0100649	Neoplasm of the oral cavity	55135	WRAP53	OMIM:613988
HP:0100649	Neoplasm of the oral cavity	89970	RSPRY1	ORPHA:457395
HP:0100649	Neoplasm of the oral cavity	5573	PRKAR1A	OMIM:160980
HP:0100649	Neoplasm of the oral cavity	8481	OFD1	ORPHA:2750
HP:0100649	Neoplasm of the oral cavity	4952	OCRL	ORPHA:534
HP:0100649	Neoplasm of the oral cavity	3339	HSPG2	ORPHA:800
HP:0100649	Neoplasm of the oral cavity	10804	GJB6	ORPHA:477
HP:0100649	Neoplasm of the oral cavity	2706	GJB2	ORPHA:477
HP:0100649	Neoplasm of the oral cavity	355	FAS	ORPHA:3261
HP:0100649	Neoplasm of the oral cavity	356	FASLG	ORPHA:3261
HP:0100649	Neoplasm of the oral cavity	843	CASP10	ORPHA:3261
HP:0100649	Neoplasm of the oral cavity	8314	BAP1	ORPHA:2495
HP:0100649	Neoplasm of the oral cavity	4771	NF2	ORPHA:2495
HP:0100649	Neoplasm of the oral cavity	6598	SMARCB1	ORPHA:2495
HP:0100649	Neoplasm of the oral cavity	5155	PDGFB	ORPHA:2495
HP:0100649	Neoplasm of the oral cavity	84231	TRAF7	ORPHA:2495
HP:0100649	Neoplasm of the oral cavity	6608	SMO	ORPHA:2495
HP:0100649	Neoplasm of the oral cavity	207	AKT1	ORPHA:2495
HP:0100649	Neoplasm of the oral cavity	5290	PIK3CA	ORPHA:2495
HP:0100649	Neoplasm of the oral cavity	7015	TERT	ORPHA:2495
HP:0100649	Neoplasm of the oral cavity	51684	SUFU	ORPHA:2495
HP:0100649	Neoplasm of the oral cavity	6605	SMARCE1	ORPHA:2495
HP:0100649	Neoplasm of the oral cavity	23522	KAT6B	ORPHA:3047
HP:0100649	Neoplasm of the oral cavity	4609	MYC	ORPHA:543
HP:0100649	Neoplasm of the oral cavity	4000	LMNA	ORPHA:79474
HP:0100649	Neoplasm of the oral cavity	7486	WRN	ORPHA:902
HP:0100649	Neoplasm of the oral cavity	5324	PLAG1	OMIM:181030
HP:0100649	Neoplasm of the oral cavity	4072	EPCAM	ORPHA:144
HP:0100649	Neoplasm of the oral cavity	4292	MLH1	ORPHA:144
HP:0100649	Neoplasm of the oral cavity	5395	PMS2	ORPHA:144
HP:0100649	Neoplasm of the oral cavity	7048	TGFBR2	ORPHA:144
HP:0100649	Neoplasm of the oral cavity	3845	KRAS	ORPHA:144
HP:0100649	Neoplasm of the oral cavity	2956	MSH6	ORPHA:144
HP:0100649	Neoplasm of the oral cavity	5378	PMS1	ORPHA:144
HP:0100649	Neoplasm of the oral cavity	4436	MSH2	ORPHA:144
HP:0012293	Abnormal genital pigmentation	5728	PTEN	ORPHA:79076
HP:0012293	Abnormal genital pigmentation	657	BMPR1A	ORPHA:79076
HP:0012294	Abnormal occipital bone morphology	23019	CNOT1	OMIM:618500
HP:0012294	Abnormal occipital bone morphology	23019	CNOT1	ORPHA:556955
HP:0012294	Abnormal occipital bone morphology	28981	IFT81	OMIM:617895
HP:0012294	Abnormal occipital bone morphology	57061	HYMAI	ORPHA:96191
HP:0012294	Abnormal occipital bone morphology	5325	PLAGL1	ORPHA:96191
HP:0012294	Abnormal occipital bone morphology	56006	SMG9	OMIM:616920
HP:0012294	Abnormal occipital bone morphology	3265	HRAS	ORPHA:2612
HP:0012294	Abnormal occipital bone morphology	3845	KRAS	ORPHA:2612
HP:0012294	Abnormal occipital bone morphology	4893	NRAS	ORPHA:2612
HP:0012294	Abnormal occipital bone morphology	1859	DYRK1A	OMIM:614104
HP:0012294	Abnormal occipital bone morphology	7291	TWIST1	OMIM:123100
HP:0012294	Abnormal occipital bone morphology	7291	TWIST1	ORPHA:35093
HP:0012294	Abnormal occipital bone morphology	100151683	RNU4ATAC	OMIM:210710
HP:0012294	Abnormal occipital bone morphology	100151683	RNU4ATAC	ORPHA:2636
HP:0012294	Abnormal occipital bone morphology	1861	TOR1A	OMIM:618947
HP:0012294	Abnormal occipital bone morphology	526	ATP6V1B2	ORPHA:79500
HP:0012294	Abnormal occipital bone morphology	57465	TBC1D24	ORPHA:79500
HP:0012294	Abnormal occipital bone morphology	2737	GLI3	ORPHA:36
HP:0012294	Abnormal occipital bone morphology	374654	KIF7	ORPHA:36
HP:0012294	Abnormal occipital bone morphology	374654	KIF7	OMIM:200990
HP:0012294	Abnormal occipital bone morphology	23556	PIGN	ORPHA:280633
HP:0012294	Abnormal occipital bone morphology	5649	RELN	ORPHA:89844
HP:0012294	Abnormal occipital bone morphology	10300	KATNB1	ORPHA:89844
HP:0012294	Abnormal occipital bone morphology	54820	NDE1	ORPHA:89844
HP:0012294	Abnormal occipital bone morphology	83737	ITCH	OMIM:613385
HP:0012294	Abnormal occipital bone morphology	83737	ITCH	ORPHA:228426
HP:0012294	Abnormal occipital bone morphology	10220	GDF11	OMIM:619122
HP:0012294	Abnormal occipital bone morphology	4849	CNOT3	OMIM:618672
HP:0012294	Abnormal occipital bone morphology	6911	TBX6	ORPHA:1797
HP:0012294	Abnormal occipital bone morphology	7841	MOGS	ORPHA:79330
HP:0012294	Abnormal occipital bone morphology	7841	MOGS	OMIM:606056
HP:0012294	Abnormal occipital bone morphology	57539	WDR35	ORPHA:1515
HP:0012294	Abnormal occipital bone morphology	112752	IFT43	ORPHA:1515
HP:0012294	Abnormal occipital bone morphology	51098	IFT52	ORPHA:1515
HP:0012294	Abnormal occipital bone morphology	55764	IFT122	ORPHA:1515
HP:0012294	Abnormal occipital bone morphology	57728	WDR19	ORPHA:1515
HP:0012294	Abnormal occipital bone morphology	9897	WASHC5	OMIM:220210
HP:0012294	Abnormal occipital bone morphology	9897	WASHC5	ORPHA:7
HP:0012294	Abnormal occipital bone morphology	4784	NFIX	OMIM:602535
HP:0012294	Abnormal occipital bone morphology	1513	CTSK	OMIM:265800
HP:0012294	Abnormal occipital bone morphology	1028	CDKN1C	OMIM:130650
HP:0012294	Abnormal occipital bone morphology	3481	IGF2	OMIM:130650
HP:0012294	Abnormal occipital bone morphology	3784	KCNQ1	OMIM:130650
HP:0012294	Abnormal occipital bone morphology	10984	KCNQ1OT1	OMIM:130650
HP:0012294	Abnormal occipital bone morphology	7021	TFAP2B	ORPHA:46627
HP:0012294	Abnormal occipital bone morphology	9968	MED12	ORPHA:93932
HP:0012294	Abnormal occipital bone morphology	134701	RIPPLY2	ORPHA:2311
HP:0012294	Abnormal occipital bone morphology	10683	DLL3	ORPHA:2311
HP:0012294	Abnormal occipital bone morphology	3955	LFNG	ORPHA:2311
HP:0012294	Abnormal occipital bone morphology	84667	HES7	ORPHA:2311
HP:0012294	Abnormal occipital bone morphology	145873	MESP2	ORPHA:2311
HP:0012294	Abnormal occipital bone morphology	1147	CHUK	OMIM:619339
HP:0012294	Abnormal occipital bone morphology	2317	FLNB	OMIM:108721
HP:0012294	Abnormal occipital bone morphology	23522	KAT6B	ORPHA:3047
HP:0012294	Abnormal occipital bone morphology	23522	KAT6B	OMIM:603736
HP:0012294	Abnormal occipital bone morphology	28952	CCDC22	ORPHA:7
HP:0012294	Abnormal occipital bone morphology	57020	VPS35L	ORPHA:7
HP:0012294	Abnormal occipital bone morphology	56896	DPYSL5	ORPHA:7
HP:0012294	Abnormal occipital bone morphology	538	ATP7A	ORPHA:565
HP:0012294	Abnormal occipital bone morphology	55553	SOX6	OMIM:618971
HP:0012294	Abnormal occipital bone morphology	8621	CDK13	OMIM:617360
HP:0012294	Abnormal occipital bone morphology	5277	PIGA	OMIM:300868
HP:0012294	Abnormal occipital bone morphology	2703	GJA8	OMIM:612474
HP:0012294	Abnormal occipital bone morphology	2702	GJA5	OMIM:612474
HP:0012294	Abnormal occipital bone morphology	4613	MYCN	OMIM:164280
HP:0012294	Abnormal occipital bone morphology	2316	FLNA	OMIM:311300
HP:0012294	Abnormal occipital bone morphology	2077	ERF	ORPHA:35093
HP:0012294	Abnormal occipital bone morphology	60529	ALX4	ORPHA:35093
HP:0012294	Abnormal occipital bone morphology	4853	NOTCH2	ORPHA:955
HP:0012294	Abnormal occipital bone morphology	11253	MAN1B1	ORPHA:397941
HP:0012294	Abnormal occipital bone morphology	11253	MAN1B1	OMIM:614202
HP:0012294	Abnormal occipital bone morphology	3590	IL11RA	OMIM:614188
HP:0012294	Abnormal occipital bone morphology	142680	SLC34A3	OMIM:241530
HP:0012294	Abnormal occipital bone morphology	1594	CYP27B1	ORPHA:289157
HP:0012294	Abnormal occipital bone morphology	1594	CYP27B1	OMIM:264700
HP:0012294	Abnormal occipital bone morphology	120227	CYP2R1	ORPHA:289157
HP:0012294	Abnormal occipital bone morphology	120227	CYP2R1	OMIM:600081
HP:0012294	Abnormal occipital bone morphology	51633	OTUD6B	OMIM:617452
HP:0012294	Abnormal occipital bone morphology	51633	OTUD6B	ORPHA:505237
HP:0012294	Abnormal occipital bone morphology	6228	RPS23	OMIM:617412
HP:0012294	Abnormal occipital bone morphology	23314	SATB2	ORPHA:251028
HP:0012294	Abnormal occipital bone morphology	4762	NEUROG1	OMIM:620469
HP:0012294	Abnormal occipital bone morphology	3098	HK1	OMIM:618547
HP:0012294	Abnormal occipital bone morphology	84942	WDR73	OMIM:251300
HP:0012294	Abnormal occipital bone morphology	79813	EHMT1	ORPHA:96147
HP:0012294	Abnormal occipital bone morphology	23345	SYNE1	ORPHA:319332
HP:0012294	Abnormal occipital bone morphology	7337	UBE3A	OMIM:105830
HP:0012294	Abnormal occipital bone morphology	7337	UBE3A	ORPHA:98794
HP:0012294	Abnormal occipital bone morphology	7337	UBE3A	ORPHA:411511
HP:0012294	Abnormal occipital bone morphology	6638	SNRPN	OMIM:105830
HP:0012294	Abnormal occipital bone morphology	6638	SNRPN	ORPHA:177907
HP:0012294	Abnormal occipital bone morphology	5727	PTCH1	OMIM:610828
HP:0012294	Abnormal occipital bone morphology	6872	TAF1	OMIM:300966
HP:0012294	Abnormal occipital bone morphology	285590	SH3PXD2B	OMIM:249420
HP:0012294	Abnormal occipital bone morphology	253959	RALGAPA1	OMIM:618797
HP:0012294	Abnormal occipital bone morphology	23067	SETD1B	OMIM:619000
HP:0012294	Abnormal occipital bone morphology	51506	UFC1	OMIM:618076
HP:0012294	Abnormal occipital bone morphology	55784	MCTP2	ORPHA:1596
HP:0012294	Abnormal occipital bone morphology	55670	PEX26	OMIM:614872
HP:0012294	Abnormal occipital bone morphology	55670	PEX26	ORPHA:912
HP:0012294	Abnormal occipital bone morphology	2263	FGFR2	OMIM:123790
HP:0012294	Abnormal occipital bone morphology	4952	OCRL	ORPHA:534
HP:0012294	Abnormal occipital bone morphology	5189	PEX1	OMIM:214100
HP:0012294	Abnormal occipital bone morphology	5189	PEX1	ORPHA:912
HP:0012294	Abnormal occipital bone morphology	158	ADSL	ORPHA:46
HP:0012294	Abnormal occipital bone morphology	4948	OCA2	ORPHA:98794
HP:0012294	Abnormal occipital bone morphology	10559	SLC35A1	OMIM:603585
HP:0012294	Abnormal occipital bone morphology	259266	ASPM	OMIM:608716
HP:0012294	Abnormal occipital bone morphology	8813	DPM1	OMIM:608799
HP:0012294	Abnormal occipital bone morphology	8813	DPM1	ORPHA:79322
HP:0012294	Abnormal occipital bone morphology	4125	MAN2B1	OMIM:248500
HP:0012294	Abnormal occipital bone morphology	10381	TUBB3	ORPHA:300570
HP:0012294	Abnormal occipital bone morphology	2146	EZH2	OMIM:277590
HP:0012294	Abnormal occipital bone morphology	5195	PEX14	OMIM:614887
HP:0012294	Abnormal occipital bone morphology	5195	PEX14	ORPHA:912
HP:0012294	Abnormal occipital bone morphology	5479	PPIB	OMIM:259440
HP:0012294	Abnormal occipital bone morphology	8604	SLC25A12	OMIM:612949
HP:0012294	Abnormal occipital bone morphology	129285	PPP1R21	OMIM:619383
HP:0012294	Abnormal occipital bone morphology	54968	TMEM70	OMIM:614052
HP:0012294	Abnormal occipital bone morphology	3832	KIF11	OMIM:152950
HP:0012294	Abnormal occipital bone morphology	7545	ZIC1	OMIM:618736
HP:0012294	Abnormal occipital bone morphology	7421	VDR	OMIM:277440
HP:0012294	Abnormal occipital bone morphology	3636	INPPL1	ORPHA:2746
HP:0012294	Abnormal occipital bone morphology	124512	METTL23	OMIM:615942
HP:0012294	Abnormal occipital bone morphology	89910	UBE3B	ORPHA:2707
HP:0012294	Abnormal occipital bone morphology	139285	AMER1	ORPHA:2780
HP:0012294	Abnormal occipital bone morphology	5824	PEX19	ORPHA:912
HP:0012294	Abnormal occipital bone morphology	5828	PEX2	ORPHA:912
HP:0012294	Abnormal occipital bone morphology	8504	PEX3	ORPHA:912
HP:0012294	Abnormal occipital bone morphology	8799	PEX11B	ORPHA:912
HP:0012294	Abnormal occipital bone morphology	9409	PEX16	ORPHA:912
HP:0012294	Abnormal occipital bone morphology	5190	PEX6	ORPHA:912
HP:0012294	Abnormal occipital bone morphology	5830	PEX5	ORPHA:912
HP:0012294	Abnormal occipital bone morphology	5193	PEX12	ORPHA:912
HP:0012294	Abnormal occipital bone morphology	5194	PEX13	ORPHA:912
HP:0012294	Abnormal occipital bone morphology	5192	PEX10	ORPHA:912
HP:0012294	Abnormal occipital bone morphology	26834	RNU4-2	OMIM:620851
HP:0012294	Abnormal occipital bone morphology	9896	FIG4	ORPHA:3472
HP:0012294	Abnormal occipital bone morphology	55697	VAC14	ORPHA:3472
HP:0012294	Abnormal occipital bone morphology	25914	RTTN	ORPHA:468631
HP:0012296	Slender distal phalanx of finger	3835	KIF22	OMIM:603546
HP:0012297	Slender proximal phalanx of finger	3835	KIF22	OMIM:603546
HP:0012299	Long distal phalanx of finger	3835	KIF22	OMIM:603546
HP:0033100	Increased proteinogenic amino acid level in urine	444	ASPH	OMIM:601552
HP:0033100	Increased proteinogenic amino acid level in urine	4552	MTRR	OMIM:236270
HP:0033100	Increased proteinogenic amino acid level in urine	4524	MTHFR	OMIM:236250
HP:0033100	Increased proteinogenic amino acid level in urine	4524	MTHFR	ORPHA:395
HP:0033100	Increased proteinogenic amino acid level in urine	55788	LMBRD1	OMIM:277380
HP:0033100	Increased proteinogenic amino acid level in urine	3054	HCFC1	OMIM:309541
HP:0033100	Increased proteinogenic amino acid level in urine	875	CBS	OMIM:236200
HP:0033100	Increased proteinogenic amino acid level in urine	5826	ABCD4	OMIM:614857
HP:0033100	Increased proteinogenic amino acid level in urine	4548	MTR	OMIM:250940
HP:0033100	Increased proteinogenic amino acid level in urine	27249	MMADHC	OMIM:277410
HP:0033100	Increased proteinogenic amino acid level in urine	5052	PRDX1	OMIM:277400
HP:0033100	Increased proteinogenic amino acid level in urine	25974	MMACHC	OMIM:277400
HP:0033100	Increased proteinogenic amino acid level in urine	3034	HAL	OMIM:235800
HP:0033100	Increased proteinogenic amino acid level in urine	3034	HAL	ORPHA:2157
HP:0033100	Increased proteinogenic amino acid level in urine	2731	GLDC	OMIM:605899
HP:0033100	Increased proteinogenic amino acid level in urine	3712	IVD	OMIM:243500
HP:0033100	Increased proteinogenic amino acid level in urine	27247	NFU1	OMIM:605711
HP:0033100	Increased proteinogenic amino acid level in urine	34	ACADM	OMIM:201450
HP:0033100	Increased proteinogenic amino acid level in urine	64087	MCCC2	OMIM:210210
HP:0033100	Increased proteinogenic amino acid level in urine	132158	GLYCTK	ORPHA:941
HP:0033100	Increased proteinogenic amino acid level in urine	5095	PCCA	OMIM:606054
HP:0033100	Increased proteinogenic amino acid level in urine	5096	PCCB	OMIM:606054
HP:0033100	Increased proteinogenic amino acid level in urine	9581	PREPL	OMIM:616224
HP:0033100	Increased proteinogenic amino acid level in urine	9581	PREPL	ORPHA:163690
HP:0033100	Increased proteinogenic amino acid level in urine	9581	PREPL	ORPHA:163693
HP:0033100	Increased proteinogenic amino acid level in urine	5495	PPM1B	ORPHA:163693
HP:0033100	Increased proteinogenic amino acid level in urine	79823	CAMKMT	ORPHA:163693
HP:0033100	Increased proteinogenic amino acid level in urine	26873	OPLAH	OMIM:260005
HP:0033100	Increased proteinogenic amino acid level in urine	153201	SLC36A2	OMIM:242600
HP:0033100	Increased proteinogenic amino acid level in urine	153201	SLC36A2	ORPHA:42062
HP:0033100	Increased proteinogenic amino acid level in urine	5625	PRODH	OMIM:239500
HP:0033100	Increased proteinogenic amino acid level in urine	5625	PRODH	ORPHA:419
HP:0033100	Increased proteinogenic amino acid level in urine	348932	SLC6A18	ORPHA:42062
HP:0033100	Increased proteinogenic amino acid level in urine	54716	SLC6A20	ORPHA:42062
HP:0033100	Increased proteinogenic amino acid level in urine	340024	SLC6A19	ORPHA:42062
HP:0033100	Increased proteinogenic amino acid level in urine	8659	ALDH4A1	ORPHA:79101
HP:0033100	Increased proteinogenic amino acid level in urine	8659	ALDH4A1	OMIM:239510
HP:0033100	Increased proteinogenic amino acid level in urine	10157	AASS	ORPHA:2203
HP:0033100	Increased proteinogenic amino acid level in urine	10157	AASS	OMIM:238700
HP:0033100	Increased proteinogenic amino acid level in urine	6519	SLC3A1	OMIM:220100
HP:0033100	Increased proteinogenic amino acid level in urine	11136	SLC7A9	OMIM:220100
HP:0033100	Increased proteinogenic amino acid level in urine	9056	SLC7A7	ORPHA:470
HP:0033100	Increased proteinogenic amino acid level in urine	3000	GUCY2D	OMIM:204000
HP:0033100	Increased proteinogenic amino acid level in urine	133686	NADK2	OMIM:616034
HP:0033100	Increased proteinogenic amino acid level in urine	6999	TDO2	OMIM:600627
HP:0033100	Increased proteinogenic amino acid level in urine	383	ARG1	OMIM:207800
HP:0033100	Increased proteinogenic amino acid level in urine	383	ARG1	ORPHA:90
HP:0033100	Increased proteinogenic amino acid level in urine	57393	CLTRN	ORPHA:2116
HP:0033100	Increased proteinogenic amino acid level in urine	1757	SARDH	ORPHA:3129
HP:0033100	Increased proteinogenic amino acid level in urine	7381	UQCRB	OMIM:615158
HP:0033100	Increased proteinogenic amino acid level in urine	51601	LIPT1	OMIM:616299
HP:0033100	Increased proteinogenic amino acid level in urine	6821	SUOX	OMIM:272300
HP:0033100	Increased proteinogenic amino acid level in urine	6505	SLC1A1	OMIM:222730
HP:0033100	Increased proteinogenic amino acid level in urine	6898	TAT	OMIM:276600
HP:0033102	Monkey wrench femoral neck	64131	XYLT1	OMIM:615777
HP:0033102	Monkey wrench femoral neck	124583	CANT1	OMIM:617719
HP:0033102	Monkey wrench femoral neck	124583	CANT1	OMIM:251450
HP:0033102	Monkey wrench femoral neck	55790	CSGALNACT1	OMIM:618870
HP:0033104	Inappropriate absence of fever	3570	IL6R	OMIM:618944
HP:0033105	Interhypothalamic adhesion	1000	CDH2	OMIM:618929
HP:0033106	Elevated circulating D-dimer concentration	6773	STAT2	OMIM:618886
HP:0033106	Elevated circulating D-dimer concentration	3119	HLA-DQB1	ORPHA:703
HP:0033106	Elevated circulating D-dimer concentration	3123	HLA-DRB1	ORPHA:703
HP:0033106	Elevated circulating D-dimer concentration	5698	PSMB9	OMIM:620796
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	2731	GLDC	OMIM:605899
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	8802	SUCLG1	OMIM:245400
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	100303755	PET117	OMIM:619063
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	29968	PSAT1	ORPHA:284417
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	27247	NFU1	OMIM:605711
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	1351	COX8A	OMIM:619059
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	348932	SLC6A18	ORPHA:42062
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	153201	SLC36A2	ORPHA:42062
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	54716	SLC6A20	ORPHA:42062
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	340024	SLC6A19	ORPHA:42062
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	9054	NFS1	OMIM:619386
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	200205	IBA57	OMIM:615330
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	55532	SLC30A10	ORPHA:309854
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	387787	LIPT2	OMIM:617668
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	388962	BOLA3	OMIM:614299
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	2653	GCSH	OMIM:620423
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	498	ATP5F1A	OMIM:620358
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	8659	ALDH4A1	ORPHA:79101
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	51218	GLRX5	OMIM:616859
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	326625	MMAB	OMIM:251110
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	4594	MMUT	OMIM:251000
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	132158	GLYCTK	ORPHA:941
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	166785	MMAA	OMIM:251100
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	5095	PCCA	OMIM:606054
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	5096	PCCB	OMIM:606054
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	6573	SLC19A1	OMIM:601775
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	4522	MTHFD1	OMIM:617780
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	3054	HCFC1	OMIM:309541
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	51293	CD320	OMIM:613646
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	6948	TCN2	OMIM:275350
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	84693	MCEE	OMIM:251120
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	133686	NADK2	ORPHA:431361
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	133686	NADK2	OMIM:616034
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	435	ASL	ORPHA:23
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	435	ASL	OMIM:207900
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	763	CA5A	OMIM:615751
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	5009	OTC	OMIM:311250
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	162417	NAGS	ORPHA:927
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	162417	NAGS	OMIM:237310
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	445	ASS1	OMIM:215700
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	51241	COX16	OMIM:619355
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	2744	GLS	OMIM:618412
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	51601	LIPT1	OMIM:616299
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	4358	MPV17	OMIM:256810
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	6898	TAT	OMIM:276600
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	2184	FAH	OMIM:276700
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	617	BCS1L	OMIM:124000
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	7019	TFAM	OMIM:617156
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	132	ADK	OMIM:614300
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	875	CBS	OMIM:236200
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	4143	MAT1A	OMIM:250850
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	27232	GNMT	OMIM:606664
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	9652	SKIC3	OMIM:222470
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	4982	TNFRSF11B	OMIM:239000
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	3000	GUCY2D	OMIM:204000
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	4552	MTRR	OMIM:236270
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	4552	MTRR	ORPHA:2169
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	25974	MMACHC	ORPHA:79282
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	25974	MMACHC	OMIM:277400
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	55788	LMBRD1	ORPHA:79284
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	4524	MTHFR	ORPHA:395
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	5826	ABCD4	OMIM:614857
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	4548	MTR	OMIM:250940
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	27249	MMADHC	OMIM:277410
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	5052	PRDX1	OMIM:277400
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	56922	MCCC1	ORPHA:6
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	64087	MCCC2	ORPHA:6
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	8942	KYNU	ORPHA:79155
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	5053	PAH	OMIM:261600
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	5053	PAH	ORPHA:79254
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	5092	PCBD1	OMIM:264070
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	5092	PCBD1	ORPHA:1578
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	2643	GCH1	OMIM:233910
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	5805	PTS	OMIM:261640
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	5860	QDPR	OMIM:261630
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	6697	SPR	OMIM:612716
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	1373	CPS1	ORPHA:147
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	1373	CPS1	OMIM:237300
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	3664	IRF6	ORPHA:1300
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	275	AMT	OMIM:620398
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	4929	NR4A2	ORPHA:98808
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	3615	IMPDH2	ORPHA:98808
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	1738	DLD	ORPHA:2394
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	593	BCKDHA	OMIM:248600
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	9377	COX5A	OMIM:619064
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	5625	PRODH	OMIM:600850
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	5625	PRODH	OMIM:239500
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	5625	PRODH	ORPHA:419
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	4718	NDUFC2	OMIM:619170
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	4716	NDUFB10	OMIM:619003
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	1352	COX10	OMIM:619046
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	54704	PDP1	ORPHA:79246
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	79736	TEFM	OMIM:620451
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	80222	TARS2	OMIM:615918
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	1757	SARDH	ORPHA:3129
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	1757	SARDH	OMIM:268900
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	191	AHCY	ORPHA:88618
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	6888	TALDO1	ORPHA:101028
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	55163	PNPO	ORPHA:79096
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	10841	FTCD	ORPHA:51208
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	131669	UROC1	ORPHA:210128
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	3034	HAL	OMIM:235800
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	3034	HAL	ORPHA:2157
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	10367	MICU1	OMIM:615673
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	152926	PPM1K	OMIM:615135
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	594	BCKDHB	OMIM:620698
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	587	BCAT2	OMIM:618850
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	506	ATP5F1B	OMIM:620085
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	3242	HPD	ORPHA:2118
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	26227	PHGDH	ORPHA:79351
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	9056	SLC7A7	ORPHA:470
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	10165	SLC25A13	ORPHA:247598
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	5723	PSPH	ORPHA:79350
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	5723	PSPH	OMIM:614023
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	6999	TDO2	OMIM:600627
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	5832	ALDH18A1	OMIM:219150
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	10295	BCKDK	OMIM:614923
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	2752	GLUL	OMIM:610015
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	2752	GLUL	OMIM:620806
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	4190	MDH1	OMIM:618959
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	10157	AASS	ORPHA:3124
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	4780	NFE2L2	OMIM:617744
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	10243	GPHN	OMIM:615501
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	383	ARG1	OMIM:207800
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	440	ASNS	OMIM:615574
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	1491	CTH	ORPHA:212
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	55788	LMBRD1	OMIM:277380
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	4524	MTHFR	ORPHA:395
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	5052	PRDX1	OMIM:277400
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	25974	MMACHC	OMIM:277400
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	9056	SLC7A7	ORPHA:470
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	5091	PC	OMIM:266150
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	51241	COX16	OMIM:619355
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	55768	NGLY1	OMIM:615273
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	26235	FBXL4	OMIM:615471
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	4567	MT-TL1	ORPHA:324525
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	4567	MT-TL1	ORPHA:255210
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	54914	FOCAD	OMIM:619991
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	498	ATP5F1A	OMIM:616045
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	498	ATP5F1A	OMIM:620358
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	498	ATP5F1A	ORPHA:254913
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	11222	MRPL3	OMIM:614582
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	763	CA5A	OMIM:615751
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	10059	DNM1L	OMIM:614388
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	25821	MTO1	OMIM:614702
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	90624	LYRM7	OMIM:615838
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	8659	ALDH4A1	ORPHA:79101
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	57176	VARS2	OMIM:615917
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	2203	FBP1	ORPHA:348
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	80222	TARS2	OMIM:615918
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	162417	NAGS	OMIM:237310
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	162417	NAGS	ORPHA:927
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	5428	POLG	ORPHA:254881
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	5428	POLG	ORPHA:298
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	4535	MT-ND1	ORPHA:255210
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	4536	MT-ND2	ORPHA:255210
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	4537	MT-ND3	ORPHA:255210
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	4538	MT-ND4	ORPHA:255210
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	4578	MT-TW	ORPHA:255210
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	4577	MT-TV	ORPHA:255210
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	4508	MT-ATP6	ORPHA:255210
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	4508	MT-ATP6	ORPHA:254913
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	4540	MT-ND5	ORPHA:255210
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	4541	MT-ND6	ORPHA:255210
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	4566	MT-TK	ORPHA:255210
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	4716	NDUFB10	OMIM:619003
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	6341	SCO1	OMIM:619048
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	7385	UQCRC2	OMIM:615160
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	5160	PDHA1	OMIM:312170
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	1352	COX10	OMIM:619046
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	387787	LIPT2	OMIM:617668
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	1841	DTYMK	OMIM:619847
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	4285	MIPEP	OMIM:617228
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	54931	TRMT10C	OMIM:616974
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	4976	OPA1	OMIM:616896
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	1890	TYMP	ORPHA:298
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	3980	LIG3	ORPHA:298
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	50484	RRM2B	ORPHA:298
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	1340	COX6B1	OMIM:619051
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	90161	HS6ST2	OMIM:301025
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	4718	NDUFC2	OMIM:619170
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	1351	COX8A	OMIM:619059
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	4509	MT-ATP8	ORPHA:254913
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	514	ATP5F1E	ORPHA:254913
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	513	ATP5F1D	ORPHA:254913
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	84833	ATP5MK	ORPHA:254913
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	91647	ATPAF2	ORPHA:254913
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	51116	MRPS2	OMIM:617950
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	125988	MICOS13	OMIM:618329
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	4724	NDUFS4	OMIM:252010
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	54148	MRPL39	OMIM:620646
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	51079	NDUFA13	OMIM:618249
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	291	SLC25A4	OMIM:615418
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	54704	PDP1	ORPHA:79246
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	9377	COX5A	OMIM:619064
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	55863	TMEM126B	OMIM:618250
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	54968	TMEM70	OMIM:614052
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	3735	KARS1	OMIM:619147
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	63931	MRPS14	OMIM:618378
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	9054	NFS1	OMIM:619386
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	57017	COQ9	OMIM:614654
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	84947	SERAC1	OMIM:614739
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	79736	TEFM	OMIM:620451
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	8050	PDHX	ORPHA:255182
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	10165	SLC25A13	ORPHA:247598
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	443	ASPA	OMIM:271900
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	593	BCKDHA	OMIM:248600
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	2593	GAMT	OMIM:612736
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	763	CA5A	OMIM:615751
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	5009	OTC	ORPHA:664
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	5009	OTC	OMIM:311250
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	4535	MT-ND1	ORPHA:255210
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	4536	MT-ND2	ORPHA:255210
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	4537	MT-ND3	ORPHA:255210
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	4538	MT-ND4	ORPHA:255210
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	4567	MT-TL1	ORPHA:255210
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	4578	MT-TW	ORPHA:255210
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	4577	MT-TV	ORPHA:255210
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	4508	MT-ATP6	ORPHA:255210
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	4540	MT-ND5	ORPHA:255210
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	4541	MT-ND6	ORPHA:255210
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	4566	MT-TK	ORPHA:255210
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	29960	MRM2	OMIM:618567
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	498	ATP5F1A	OMIM:620358
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	1373	CPS1	OMIM:237300
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	5832	ALDH18A1	OMIM:219150
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	5105	PCK1	OMIM:261680
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	162417	NAGS	OMIM:237310
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	10166	SLC25A15	ORPHA:415
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	10165	SLC25A13	OMIM:605814
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	10165	SLC25A13	ORPHA:247585
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	10165	SLC25A13	ORPHA:247598
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	10165	SLC25A13	OMIM:603471
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	9056	SLC7A7	ORPHA:470
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	445	ASS1	OMIM:215700
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	10157	AASS	ORPHA:3124
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	4942	OAT	OMIM:258870
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	4942	OAT	ORPHA:414
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	29958	DMGDH	OMIM:605850
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	435	ASL	ORPHA:23
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	435	ASL	OMIM:207900
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	51733	UPB1	OMIM:613161
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	132	ADK	OMIM:614300
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	54532	USP53	OMIM:619658
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	7915	ALDH5A1	OMIM:271980
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	4353	MPO	OMIM:104300
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	4846	NOS3	OMIM:104300
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	5328	PLAU	OMIM:104300
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	351	APP	OMIM:104300
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	8942	KYNU	OMIM:617661
HP:0033111	3-hydroxyisovaleric aciduria	763	CA5A	OMIM:615751
HP:0033111	3-hydroxyisovaleric aciduria	3141	HLCS	OMIM:253270
HP:0033111	3-hydroxyisovaleric aciduria	56922	MCCC1	OMIM:210200
HP:0033111	3-hydroxyisovaleric aciduria	3712	IVD	ORPHA:33
HP:0033113	Gallop rhythm	7092	TLL1	ORPHA:99106
HP:0033113	Gallop rhythm	4625	MYH7	OMIM:255160
HP:0033117	Duodenitis	6868	ADAM17	OMIM:614328
HP:0033117	Duodenitis	10526	IPO8	OMIM:619472
HP:0033117	Duodenitis	22900	CARD8	OMIM:619079
HP:0033118	Abnormal right ventricular function	4920	ROR2	OMIM:268310
HP:0033118	Abnormal right ventricular function	7474	WNT5A	OMIM:180700
HP:0033118	Abnormal right ventricular function	1855	DVL1	OMIM:180700
HP:0033118	Abnormal right ventricular function	7092	TLL1	ORPHA:99103
HP:0033118	Abnormal right ventricular function	57057	TBX20	ORPHA:99103
HP:0033118	Abnormal right ventricular function	4624	MYH6	ORPHA:99103
HP:0033118	Abnormal right ventricular function	1482	NKX2-5	ORPHA:99103
HP:0033118	Abnormal right ventricular function	70	ACTC1	ORPHA:99103
HP:0033118	Abnormal right ventricular function	10370	CITED2	ORPHA:99103
HP:0033118	Abnormal right ventricular function	2626	GATA4	ORPHA:99103
HP:0033118	Abnormal right ventricular function	2627	GATA6	ORPHA:99103
HP:0033118	Abnormal right ventricular function	57190	SELENON	ORPHA:324604
HP:0033118	Abnormal right ventricular function	4625	MYH7	ORPHA:324604
HP:0033118	Abnormal right ventricular function	7273	TTN	ORPHA:324604
HP:0033118	Abnormal right ventricular function	79572	ATP13A3	OMIM:265400
HP:0033118	Abnormal right ventricular function	546	ATRX	ORPHA:100075
HP:0033118	Abnormal right ventricular function	440275	EIF2AK4	ORPHA:199241
HP:0033118	Abnormal right ventricular function	10568	SLC34A2	ORPHA:60025
HP:0033118	Abnormal right ventricular function	659	BMPR2	OMIM:178600
HP:0033118	Abnormal right ventricular function	826	CAPNS1	OMIM:620777
HP:0033118	Abnormal right ventricular function	6392	SDHD	ORPHA:100093
HP:0033122	Absent P wave	4878	NPPA	OMIM:615745
HP:0033122	Absent P wave	6331	SCN5A	OMIM:608567
HP:0033122	Absent P wave	2010	EMD	OMIM:310300
HP:0033123	Elevated circulating osteopontin level	26191	PTPN22	ORPHA:397
HP:0033123	Elevated circulating osteopontin level	3106	HLA-B	ORPHA:397
HP:0033123	Elevated circulating osteopontin level	3123	HLA-DRB1	ORPHA:397
HP:0033123	Elevated circulating osteopontin level	8974	P4HA2	ORPHA:397
HP:0033124	Increased serum sorbitol concentration	6652	SORD	OMIM:618912
HP:0033126	Cutaneous necrosis	51816	ADA2	ORPHA:820
HP:0033127	Abnormality of the musculoskeletal system	268	AMH	ORPHA:2856
HP:0033127	Abnormality of the musculoskeletal system	268	AMH	OMIM:261550
HP:0033127	Abnormality of the musculoskeletal system	269	AMHR2	ORPHA:2856
HP:0033127	Abnormality of the musculoskeletal system	269	AMHR2	OMIM:261550
HP:0033127	Abnormality of the musculoskeletal system	64412	GZF1	OMIM:617662
HP:0033127	Abnormality of the musculoskeletal system	57589	RIC1	OMIM:618761
HP:0033127	Abnormality of the musculoskeletal system	64359	NXN	ORPHA:1507
HP:0033127	Abnormality of the musculoskeletal system	3670	ISL1	ORPHA:93930
HP:0033127	Abnormality of the musculoskeletal system	5337	PLD1	OMIM:212093
HP:0033127	Abnormality of the musculoskeletal system	339983	NAT8L	OMIM:614063
HP:0033127	Abnormality of the musculoskeletal system	9681	DEPDC5	OMIM:620504
HP:0033127	Abnormality of the musculoskeletal system	9158	FIBP	OMIM:617107
HP:0033127	Abnormality of the musculoskeletal system	9158	FIBP	ORPHA:500095
HP:0033127	Abnormality of the musculoskeletal system	284098	PIGW	OMIM:616025
HP:0033127	Abnormality of the musculoskeletal system	4212	MEIS2	ORPHA:261190
HP:0033127	Abnormality of the musculoskeletal system	1801	DPH1	ORPHA:459061
HP:0033127	Abnormality of the musculoskeletal system	1802	DPH2	ORPHA:459061
HP:0033127	Abnormality of the musculoskeletal system	10765	KDM5B	OMIM:618109
HP:0033127	Abnormality of the musculoskeletal system	170689	ADAMTS15	OMIM:620545
HP:0033127	Abnormality of the musculoskeletal system	91039	DPP9	OMIM:620331
HP:0033127	Abnormality of the musculoskeletal system	6935	ZEB1	OMIM:609141
HP:0033127	Abnormality of the musculoskeletal system	10220	GDF11	OMIM:619122
HP:0033127	Abnormality of the musculoskeletal system	9652	SKIC3	ORPHA:84064
HP:0033127	Abnormality of the musculoskeletal system	6499	SKIC2	ORPHA:84064
HP:0033127	Abnormality of the musculoskeletal system	29969	MDFIC	OMIM:620014
HP:0033127	Abnormality of the musculoskeletal system	10093	ARPC4	OMIM:620141
HP:0033127	Abnormality of the musculoskeletal system	613	BCR	ORPHA:261330
HP:0033127	Abnormality of the musculoskeletal system	1399	CRKL	ORPHA:261330
HP:0033127	Abnormality of the musculoskeletal system	5594	MAPK1	ORPHA:261330
HP:0033127	Abnormality of the musculoskeletal system	197257	LDHD	OMIM:245450
HP:0033127	Abnormality of the musculoskeletal system	1857	DVL3	ORPHA:3107
HP:0033127	Abnormality of the musculoskeletal system	2535	FZD2	ORPHA:3107
HP:0033127	Abnormality of the musculoskeletal system	84992	PIGY	OMIM:616809
HP:0033127	Abnormality of the musculoskeletal system	55690	PACS1	ORPHA:329224
HP:0033127	Abnormality of the musculoskeletal system	2657	GDF1	OMIM:208530
HP:0033127	Abnormality of the musculoskeletal system	55617	TASP1	OMIM:618950
HP:0033127	Abnormality of the musculoskeletal system	1748	DLX4	OMIM:616788
HP:0033127	Abnormality of the musculoskeletal system	6288	SAA1	ORPHA:85445
HP:0033127	Abnormality of the musculoskeletal system	3975	LHX1	ORPHA:261265
HP:0033127	Abnormality of the musculoskeletal system	9343	EFTUD2	OMIM:610536
HP:0033127	Abnormality of the musculoskeletal system	9343	EFTUD2	ORPHA:79113
HP:0033127	Abnormality of the musculoskeletal system	8456	FOXN1	ORPHA:83471
HP:0033127	Abnormality of the musculoskeletal system	4689	NCF4	ORPHA:379
HP:0033127	Abnormality of the musculoskeletal system	79415	CYBC1	ORPHA:379
HP:0033127	Abnormality of the musculoskeletal system	3321	IGSF3	OMIM:149700
HP:0033127	Abnormality of the musculoskeletal system	129685	TAF8	OMIM:619972
HP:0033127	Abnormality of the musculoskeletal system	8092	ALX1	OMIM:613456
HP:0033127	Abnormality of the musculoskeletal system	92949	ADAMTSL1	ORPHA:521445
HP:0033127	Abnormality of the musculoskeletal system	23495	TNFRSF13B	ORPHA:1572
HP:0033127	Abnormality of the musculoskeletal system	4790	NFKB1	ORPHA:1572
HP:0033127	Abnormality of the musculoskeletal system	4791	NFKB2	ORPHA:1572
HP:0033127	Abnormality of the musculoskeletal system	115650	TNFRSF13C	ORPHA:1572
HP:0033127	Abnormality of the musculoskeletal system	8742	TNFSF12	ORPHA:1572
HP:0033127	Abnormality of the musculoskeletal system	930	CD19	ORPHA:1572
HP:0033127	Abnormality of the musculoskeletal system	29851	ICOS	ORPHA:1572
HP:0033127	Abnormality of the musculoskeletal system	931	MS4A1	ORPHA:1572
HP:0033127	Abnormality of the musculoskeletal system	975	CD81	ORPHA:1572
HP:0033127	Abnormality of the musculoskeletal system	154881	KCTD7	OMIM:611726
HP:0033127	Abnormality of the musculoskeletal system	154881	KCTD7	ORPHA:263516
HP:0033127	Abnormality of the musculoskeletal system	3431	SP110	OMIM:235550
HP:0033127	Abnormality of the musculoskeletal system	3431	SP110	ORPHA:79124
HP:0033127	Abnormality of the musculoskeletal system	8452	CUL3	OMIM:619239
HP:0033127	Abnormality of the musculoskeletal system	338657	CENATAC	OMIM:620153
HP:0033127	Abnormality of the musculoskeletal system	54084	TSPEAR	OMIM:620173
HP:0033127	Abnormality of the musculoskeletal system	9837	GINS1	OMIM:617827
HP:0033127	Abnormality of the musculoskeletal system	79840	NHEJ1	ORPHA:169079
HP:0033127	Abnormality of the musculoskeletal system	80153	EDC3	OMIM:616460
HP:0033127	Abnormality of the musculoskeletal system	55623	THUMPD1	OMIM:619989
HP:0033127	Abnormality of the musculoskeletal system	7385	UQCRC2	OMIM:615160
HP:0033127	Abnormality of the musculoskeletal system	6898	TAT	ORPHA:28378
HP:0033127	Abnormality of the musculoskeletal system	10524	KAT5	OMIM:619103
HP:0033127	Abnormality of the musculoskeletal system	1636	ACE	OMIM:267430
HP:0033127	Abnormality of the musculoskeletal system	183	AGT	OMIM:267430
HP:0033127	Abnormality of the musculoskeletal system	185	AGTR1	OMIM:267430
HP:0033127	Abnormality of the musculoskeletal system	5972	REN	OMIM:267430
HP:0033127	Abnormality of the musculoskeletal system	5591	PRKDC	OMIM:615966
HP:0033127	Abnormality of the musculoskeletal system	92154	MTSS2	OMIM:620086
HP:0033127	Abnormality of the musculoskeletal system	1828	DSG1	OMIM:615508
HP:0033127	Abnormality of the musculoskeletal system	55997	CFC1	OMIM:605376
HP:0033127	Abnormality of the musculoskeletal system	55656	INTS8	OMIM:618572
HP:0033127	Abnormality of the musculoskeletal system	7283	TUBG1	ORPHA:261183
HP:0033127	Abnormality of the musculoskeletal system	7283	TUBG1	OMIM:615412
HP:0033127	Abnormality of the musculoskeletal system	81614	NIPA2	ORPHA:261183
HP:0033127	Abnormality of the musculoskeletal system	27341	RRP7A	OMIM:619453
HP:0033127	Abnormality of the musculoskeletal system	3176	HNMT	OMIM:616739
HP:0033127	Abnormality of the musculoskeletal system	3796	KIF2A	OMIM:615411
HP:0033127	Abnormality of the musculoskeletal system	7991	TUSC3	OMIM:611093
HP:0033127	Abnormality of the musculoskeletal system	8192	CLPP	OMIM:614129
HP:0033127	Abnormality of the musculoskeletal system	55367	PIDD1	OMIM:619827
HP:0033127	Abnormality of the musculoskeletal system	221078	NSUN6	OMIM:620779
HP:0033127	Abnormality of the musculoskeletal system	51728	POLR3K	OMIM:619310
HP:0033127	Abnormality of the musculoskeletal system	668	FOXL2	OMIM:110100
HP:0033127	Abnormality of the musculoskeletal system	81555	YIPF5	OMIM:619278
HP:0033127	Abnormality of the musculoskeletal system	56246	MRAP	OMIM:607398
HP:0033127	Abnormality of the musculoskeletal system	4173	MCM4	OMIM:609981
HP:0033127	Abnormality of the musculoskeletal system	5429	POLH	OMIM:278750
HP:0033127	Abnormality of the musculoskeletal system	2584	GALK1	ORPHA:79237
HP:0033127	Abnormality of the musculoskeletal system	23397	NCAPH	OMIM:617985
HP:0033127	Abnormality of the musculoskeletal system	23001	WDFY3	OMIM:617520
HP:0033127	Abnormality of the musculoskeletal system	91801	ALKBH8	OMIM:618504
HP:0033127	Abnormality of the musculoskeletal system	64121	RRAGC	OMIM:620609
HP:0033127	Abnormality of the musculoskeletal system	6810	STX4	OMIM:620745
HP:0033127	Abnormality of the musculoskeletal system	8812	CCNK	OMIM:618147
HP:0033127	Abnormality of the musculoskeletal system	10653	SPINT2	OMIM:270420
HP:0033127	Abnormality of the musculoskeletal system	6853	SYN1	ORPHA:85294
HP:0033127	Abnormality of the musculoskeletal system	6853	SYN1	OMIM:300491
HP:0033127	Abnormality of the musculoskeletal system	23590	PDSS1	OMIM:614651
HP:0033127	Abnormality of the musculoskeletal system	2334	AFF2	ORPHA:100973
HP:0033127	Abnormality of the musculoskeletal system	6907	TBL1X	OMIM:301033
HP:0033127	Abnormality of the musculoskeletal system	139886	SPIN4	OMIM:301114
HP:0033127	Abnormality of the musculoskeletal system	83871	RAB34	OMIM:620718
HP:0033127	Abnormality of the musculoskeletal system	7174	TPP2	OMIM:619220
HP:0033127	Abnormality of the musculoskeletal system	128	ADH5	OMIM:619151
HP:0033127	Abnormality of the musculoskeletal system	51256	TBC1D7	OMIM:248000
HP:0033127	Abnormality of the musculoskeletal system	3791	KDR	ORPHA:3303
HP:0033127	Abnormality of the musculoskeletal system	10370	CITED2	ORPHA:3303
HP:0033127	Abnormality of the musculoskeletal system	79005	SCNM1	OMIM:620107
HP:0033127	Abnormality of the musculoskeletal system	2296	FOXC1	OMIM:602482
HP:0033127	Abnormality of the musculoskeletal system	90161	HS6ST2	OMIM:301025
HP:0033127	Abnormality of the musculoskeletal system	9130	FAM50A	OMIM:300261
HP:0033127	Abnormality of the musculoskeletal system	79791	FBXO31	OMIM:615979
HP:0033127	Abnormality of the musculoskeletal system	54796	BNC2	ORPHA:93110
HP:0033127	Abnormality of the musculoskeletal system	818	CAMK2G	OMIM:618522
HP:0033127	Abnormality of the musculoskeletal system	10463	SLC30A9	OMIM:617595
HP:0033127	Abnormality of the musculoskeletal system	5455	POU3F3	OMIM:618604
HP:0033127	Abnormality of the musculoskeletal system	353116	RILPL1	ORPHA:98897
HP:0033127	Abnormality of the musculoskeletal system	10755	GIPC1	ORPHA:98897
HP:0033127	Abnormality of the musculoskeletal system	5521	PPP2R2B	OMIM:604326
HP:0033127	Abnormality of the musculoskeletal system	203190	LGI3	OMIM:620007
HP:0033127	Abnormality of the musculoskeletal system	5308	PITX2	ORPHA:782
HP:0033127	Abnormality of the musculoskeletal system	5308	PITX2	OMIM:180500
HP:0033127	Abnormality of the musculoskeletal system	7314	UBB	ORPHA:99772
HP:0033127	Abnormality of the musculoskeletal system	57822	GRHL3	ORPHA:99772
HP:0033127	Abnormality of the musculoskeletal system	1739	DLG1	ORPHA:199306
HP:0033127	Abnormality of the musculoskeletal system	5156	PDGFRA	ORPHA:199306
HP:0033127	Abnormality of the musculoskeletal system	22837	COBLL1	ORPHA:199306
HP:0033127	Abnormality of the musculoskeletal system	54848	ARHGEF38	ORPHA:199306
HP:0033127	Abnormality of the musculoskeletal system	9411	ARHGAP29	ORPHA:199306
HP:0033127	Abnormality of the musculoskeletal system	2512	FTL	OMIM:606159
HP:0033127	Abnormality of the musculoskeletal system	2512	FTL	ORPHA:157846
HP:0033127	Abnormality of the musculoskeletal system	23259	DDHD2	OMIM:615033
HP:0033127	Abnormality of the musculoskeletal system	10907	TXNL4A	OMIM:608572
HP:0033127	Abnormality of the musculoskeletal system	10935	PRDX3	OMIM:619862
HP:0033127	Abnormality of the musculoskeletal system	25793	FBXO7	ORPHA:171695
HP:0033127	Abnormality of the musculoskeletal system	25793	FBXO7	OMIM:260300
HP:0033127	Abnormality of the musculoskeletal system	55753	OGDHL	OMIM:619701
HP:0033127	Abnormality of the musculoskeletal system	54862	CC2D1A	OMIM:608443
HP:0033127	Abnormality of the musculoskeletal system	5396	PRRX1	OMIM:202650
HP:0033127	Abnormality of the musculoskeletal system	344167	FOXI3	OMIM:620444
HP:0033127	Abnormality of the musculoskeletal system	9734	HDAC9	OMIM:620457
HP:0033127	Abnormality of the musculoskeletal system	10134	BCAP31	ORPHA:369942
HP:0033127	Abnormality of the musculoskeletal system	199221	DZIP1L	ORPHA:731
HP:0033127	Abnormality of the musculoskeletal system	5314	PKHD1	ORPHA:731
HP:0033127	Abnormality of the musculoskeletal system	55181	SMG8	OMIM:619268
HP:0033127	Abnormality of the musculoskeletal system	81887	LAS1L	ORPHA:3459
HP:0033127	Abnormality of the musculoskeletal system	4174	MCM5	OMIM:617564
HP:0033127	Abnormality of the musculoskeletal system	6091	ROBO1	OMIM:620305
HP:0033127	Abnormality of the musculoskeletal system	83483	PLVAP	OMIM:618183
HP:0033127	Abnormality of the musculoskeletal system	55791	LRIF1	OMIM:619477
HP:0033127	Abnormality of the musculoskeletal system	79581	SLC52A2	OMIM:614707
HP:0033127	Abnormality of the musculoskeletal system	111	ADCY5	OMIM:606703
HP:0033127	Abnormality of the musculoskeletal system	79152	FA2H	ORPHA:171629
HP:0033127	Abnormality of the musculoskeletal system	1103	CHAT	ORPHA:98914
HP:0033127	Abnormality of the musculoskeletal system	127833	SYT2	ORPHA:98914
HP:0033127	Abnormality of the musculoskeletal system	6616	SNAP25	ORPHA:98914
HP:0033127	Abnormality of the musculoskeletal system	343641	TGM6	OMIM:613908
HP:0033127	Abnormality of the musculoskeletal system	343641	TGM6	ORPHA:276193
HP:0033127	Abnormality of the musculoskeletal system	5361	PLXNA1	OMIM:619955
HP:0033127	Abnormality of the musculoskeletal system	10606	PAICS	OMIM:619859
HP:0033127	Abnormality of the musculoskeletal system	4081	MAB21L1	ORPHA:495875
HP:0033127	Abnormality of the musculoskeletal system	51109	RDH11	ORPHA:436245
HP:0033127	Abnormality of the musculoskeletal system	10236	HNRNPR	OMIM:620073
HP:0033127	Abnormality of the musculoskeletal system	6888	TALDO1	OMIM:606003
HP:0033127	Abnormality of the musculoskeletal system	25792	CIZ1	ORPHA:420492
HP:0033127	Abnormality of the musculoskeletal system	2774	GNAL	OMIM:615073
HP:0033127	Abnormality of the musculoskeletal system	2774	GNAL	ORPHA:329466
HP:0033127	Abnormality of the musculoskeletal system	1356	CP	OMIM:604290
HP:0033127	Abnormality of the musculoskeletal system	1356	CP	ORPHA:48818
HP:0033127	Abnormality of the musculoskeletal system	3208	HPCA	ORPHA:99657
HP:0033127	Abnormality of the musculoskeletal system	3208	HPCA	OMIM:224500
HP:0033127	Abnormality of the musculoskeletal system	91754	NEK9	OMIM:617022
HP:0033127	Abnormality of the musculoskeletal system	387119	CEP85L	OMIM:618873
HP:0033127	Abnormality of the musculoskeletal system	3781	KCNN2	OMIM:619724
HP:0033127	Abnormality of the musculoskeletal system	63982	ANO3	ORPHA:420485
HP:0033127	Abnormality of the musculoskeletal system	63982	ANO3	OMIM:615034
HP:0033127	Abnormality of the musculoskeletal system	64601	VPS16	OMIM:619291
HP:0033127	Abnormality of the musculoskeletal system	1813	DRD2	ORPHA:36899
HP:0033127	Abnormality of the musculoskeletal system	79734	KCTD17	ORPHA:36899
HP:0033127	Abnormality of the musculoskeletal system	79734	KCTD17	OMIM:616398
HP:0033127	Abnormality of the musculoskeletal system	8558	CDK10	OMIM:617694
HP:0033127	Abnormality of the musculoskeletal system	4929	NR4A2	ORPHA:98808
HP:0033127	Abnormality of the musculoskeletal system	3615	IMPDH2	ORPHA:98808
HP:0033127	Abnormality of the musculoskeletal system	7701	ZNF142	OMIM:618425
HP:0033127	Abnormality of the musculoskeletal system	55145	THAP1	ORPHA:98806
HP:0033127	Abnormality of the musculoskeletal system	55145	THAP1	OMIM:602629
HP:0033127	Abnormality of the musculoskeletal system	11198	SUPT16H	OMIM:619480
HP:0033127	Abnormality of the musculoskeletal system	4617	MYF5	OMIM:618155
HP:0033127	Abnormality of the musculoskeletal system	6908	TBP	ORPHA:98759
HP:0033127	Abnormality of the musculoskeletal system	256472	TMEM151A	OMIM:620245
HP:0033127	Abnormality of the musculoskeletal system	6342	SCP2	OMIM:613724
HP:0033127	Abnormality of the musculoskeletal system	5422	POLA1	OMIM:301220
HP:0033127	Abnormality of the musculoskeletal system	85446	ZFHX2	OMIM:147430
HP:0033127	Abnormality of the musculoskeletal system	59335	PRDM12	OMIM:616488
HP:0033127	Abnormality of the musculoskeletal system	4990	SIX6	OMIM:212550
HP:0033127	Abnormality of the musculoskeletal system	1308	COL17A1	ORPHA:293381
HP:0033127	Abnormality of the musculoskeletal system	7045	TGFBI	ORPHA:98964
HP:0033127	Abnormality of the musculoskeletal system	7045	TGFBI	OMIM:602082
HP:0033127	Abnormality of the musculoskeletal system	2706	GJB2	OMIM:148210
HP:0033127	Abnormality of the musculoskeletal system	7399	USH2A	ORPHA:231178
HP:0033127	Abnormality of the musculoskeletal system	79955	PDZD7	ORPHA:231178
HP:0033127	Abnormality of the musculoskeletal system	4647	MYO7A	ORPHA:231178
HP:0033127	Abnormality of the musculoskeletal system	4647	MYO7A	ORPHA:231169
HP:0033127	Abnormality of the musculoskeletal system	25861	WHRN	ORPHA:231178
HP:0033127	Abnormality of the musculoskeletal system	84059	ADGRV1	ORPHA:231178
HP:0033127	Abnormality of the musculoskeletal system	9791	PTDSS1	ORPHA:2658
HP:0033127	Abnormality of the musculoskeletal system	9401	RECQL4	ORPHA:221016
HP:0033127	Abnormality of the musculoskeletal system	9820	CUL7	ORPHA:2616
HP:0033127	Abnormality of the musculoskeletal system	23363	OBSL1	ORPHA:2616
HP:0033127	Abnormality of the musculoskeletal system	83987	CCDC8	ORPHA:2616
HP:0033127	Abnormality of the musculoskeletal system	6804	STX1A	ORPHA:904
HP:0033127	Abnormality of the musculoskeletal system	7461	CLIP2	ORPHA:904
HP:0033127	Abnormality of the musculoskeletal system	84277	DNAJC30	ORPHA:904
HP:0033127	Abnormality of the musculoskeletal system	8468	FKBP6	ORPHA:904
HP:0033127	Abnormality of the musculoskeletal system	5982	RFC2	ORPHA:904
HP:0033127	Abnormality of the musculoskeletal system	2969	GTF2I	ORPHA:904
HP:0033127	Abnormality of the musculoskeletal system	3984	LIMK1	ORPHA:904
HP:0033127	Abnormality of the musculoskeletal system	9569	GTF2IRD1	ORPHA:904
HP:0033127	Abnormality of the musculoskeletal system	155382	VPS37D	ORPHA:904
HP:0033127	Abnormality of the musculoskeletal system	155368	METTL27	ORPHA:904
HP:0033127	Abnormality of the musculoskeletal system	114049	BUD23	ORPHA:904
HP:0033127	Abnormality of the musculoskeletal system	7458	EIF4H	ORPHA:904
HP:0033127	Abnormality of the musculoskeletal system	84163	GTF2IRD2	ORPHA:904
HP:0033127	Abnormality of the musculoskeletal system	26608	TBL2	ORPHA:904
HP:0033127	Abnormality of the musculoskeletal system	135886	TMEM270	ORPHA:904
HP:0033127	Abnormality of the musculoskeletal system	9031	BAZ1B	ORPHA:904
HP:0033127	Abnormality of the musculoskeletal system	63916	ELMO2	ORPHA:3019
HP:0033127	Abnormality of the musculoskeletal system	26504	CNNM4	ORPHA:1873
HP:0033127	Abnormality of the musculoskeletal system	6905	TBCE	ORPHA:2323
HP:0033127	Abnormality of the musculoskeletal system	2255	FGF10	ORPHA:2363
HP:0033127	Abnormality of the musculoskeletal system	54757	FAM20A	ORPHA:1031
HP:0033127	Abnormality of the musculoskeletal system	5818	NECTIN1	ORPHA:3253
HP:0033127	Abnormality of the musculoskeletal system	9076	CLDN1	ORPHA:59303
HP:0033127	Abnormality of the musculoskeletal system	57539	WDR35	ORPHA:1515
HP:0033127	Abnormality of the musculoskeletal system	112752	IFT43	ORPHA:1515
HP:0033127	Abnormality of the musculoskeletal system	51098	IFT52	ORPHA:1515
HP:0033127	Abnormality of the musculoskeletal system	55764	IFT122	ORPHA:1515
HP:0033127	Abnormality of the musculoskeletal system	4952	OCRL	ORPHA:534
HP:0033127	Abnormality of the musculoskeletal system	4038	LRP4	ORPHA:3258
HP:0033127	Abnormality of the musculoskeletal system	51360	MBTPS2	ORPHA:2273
HP:0033127	Abnormality of the musculoskeletal system	55612	FERMT1	ORPHA:2908
HP:0033127	Abnormality of the musculoskeletal system	545	ATR	ORPHA:808
HP:0033127	Abnormality of the musculoskeletal system	1062	CENPE	ORPHA:808
HP:0033127	Abnormality of the musculoskeletal system	5116	PCNT	ORPHA:808
HP:0033127	Abnormality of the musculoskeletal system	79902	NUP85	ORPHA:808
HP:0033127	Abnormality of the musculoskeletal system	84126	ATRIP	ORPHA:808
HP:0033127	Abnormality of the musculoskeletal system	10293	TRAIP	ORPHA:808
HP:0033127	Abnormality of the musculoskeletal system	1763	DNA2	ORPHA:808
HP:0033127	Abnormality of the musculoskeletal system	22995	CEP152	ORPHA:808
HP:0033127	Abnormality of the musculoskeletal system	10733	PLK4	ORPHA:808
HP:0033127	Abnormality of the musculoskeletal system	2248	FGF3	ORPHA:2791
HP:0033127	Abnormality of the musculoskeletal system	284111	SLC13A5	ORPHA:1946
HP:0033127	Abnormality of the musculoskeletal system	79641	ROGDI	ORPHA:1946
HP:0033127	Abnormality of the musculoskeletal system	1312	COMT	ORPHA:567
HP:0033127	Abnormality of the musculoskeletal system	221037	JMJD1C	ORPHA:567
HP:0033127	Abnormality of the musculoskeletal system	2812	GP1BB	ORPHA:567
HP:0033127	Abnormality of the musculoskeletal system	6239	RREB1	ORPHA:567
HP:0033127	Abnormality of the musculoskeletal system	6899	TBX1	ORPHA:567
HP:0033127	Abnormality of the musculoskeletal system	7290	HIRA	ORPHA:567
HP:0033127	Abnormality of the musculoskeletal system	9632	SEC24C	ORPHA:567
HP:0033127	Abnormality of the musculoskeletal system	7353	UFD1	ORPHA:567
HP:0033127	Abnormality of the musculoskeletal system	421	ARVCF	ORPHA:567
HP:0033127	Abnormality of the musculoskeletal system	54539	NDUFB11	ORPHA:2556
HP:0033127	Abnormality of the musculoskeletal system	1349	COX7B	ORPHA:2556
HP:0033127	Abnormality of the musculoskeletal system	3052	HCCS	ORPHA:2556
HP:0033127	Abnormality of the musculoskeletal system	3265	HRAS	ORPHA:3071
HP:0033127	Abnormality of the musculoskeletal system	10083	USH1C	ORPHA:231169
HP:0033127	Abnormality of the musculoskeletal system	124590	USH1G	ORPHA:231169
HP:0033127	Abnormality of the musculoskeletal system	83715	ESPN	ORPHA:231169
HP:0033127	Abnormality of the musculoskeletal system	10518	CIB2	ORPHA:231169
HP:0033127	Abnormality of the musculoskeletal system	65217	PCDH15	ORPHA:231169
HP:0033127	Abnormality of the musculoskeletal system	8626	TP63	ORPHA:1896
HP:0033127	Abnormality of the musculoskeletal system	84818	IL17RC	ORPHA:1334
HP:0033127	Abnormality of the musculoskeletal system	64581	CLEC7A	ORPHA:1334
HP:0033127	Abnormality of the musculoskeletal system	23765	IL17RA	ORPHA:1334
HP:0033127	Abnormality of the musculoskeletal system	10758	TRAF3IP2	ORPHA:1334
HP:0033127	Abnormality of the musculoskeletal system	112744	IL17F	ORPHA:1334
HP:0033127	Abnormality of the musculoskeletal system	267010	RNU12	ORPHA:85199
HP:0033127	Abnormality of the musculoskeletal system	9361	LONP1	ORPHA:1458
HP:0033127	Abnormality of the musculoskeletal system	9321	TRIP11	ORPHA:166272
HP:0033127	Abnormality of the musculoskeletal system	9321	TRIP11	OMIM:184260
HP:0033127	Abnormality of the musculoskeletal system	79879	CCDC134	OMIM:619795
HP:0033127	Abnormality of the musculoskeletal system	1834	DSPP	OMIM:125500
HP:0033127	Abnormality of the musculoskeletal system	1834	DSPP	OMIM:125490
HP:0033127	Abnormality of the musculoskeletal system	1834	DSPP	OMIM:605594
HP:0033127	Abnormality of the musculoskeletal system	5479	PPIB	OMIM:259440
HP:0033127	Abnormality of the musculoskeletal system	6678	SPARC	OMIM:616507
HP:0033127	Abnormality of the musculoskeletal system	375056	MIA3	OMIM:619269
HP:0033127	Abnormality of the musculoskeletal system	649	BMP1	OMIM:614856
HP:0033127	Abnormality of the musculoskeletal system	871	SERPINH1	OMIM:613848
HP:0033127	Abnormality of the musculoskeletal system	121340	SP7	OMIM:613849
HP:0033127	Abnormality of the musculoskeletal system	64175	P3H1	OMIM:610915
HP:0033127	Abnormality of the musculoskeletal system	265	AMELX	OMIM:301200
HP:0033127	Abnormality of the musculoskeletal system	93650	ACP4	OMIM:617297
HP:0033127	Abnormality of the musculoskeletal system	6603	SMARCD2	OMIM:617475
HP:0033127	Abnormality of the musculoskeletal system	84957	RELT	OMIM:618386
HP:0033127	Abnormality of the musculoskeletal system	256764	WDR72	OMIM:613211
HP:0033127	Abnormality of the musculoskeletal system	8111	GPR68	OMIM:617217
HP:0033127	Abnormality of the musculoskeletal system	10117	ENAM	OMIM:204650
HP:0033127	Abnormality of the musculoskeletal system	10117	ENAM	OMIM:104500
HP:0033127	Abnormality of the musculoskeletal system	286077	FAM83H	OMIM:130900
HP:0033127	Abnormality of the musculoskeletal system	80320	SP6	OMIM:620104
HP:0033127	Abnormality of the musculoskeletal system	9313	MMP20	OMIM:612529
HP:0033127	Abnormality of the musculoskeletal system	258	AMBN	OMIM:616270
HP:0033127	Abnormality of the musculoskeletal system	3909	LAMA3	OMIM:245660
HP:0033127	Abnormality of the musculoskeletal system	149461	CLDN19	OMIM:248190
HP:0033127	Abnormality of the musculoskeletal system	123041	SLC24A4	OMIM:615887
HP:0033127	Abnormality of the musculoskeletal system	6304	SATB1	OMIM:619229
HP:0033127	Abnormality of the musculoskeletal system	152816	ODAPH	OMIM:614832
HP:0033127	Abnormality of the musculoskeletal system	9622	KLK4	OMIM:204700
HP:0033127	Abnormality of the musculoskeletal system	3914	LAMB3	OMIM:104530
HP:0033127	Abnormality of the musculoskeletal system	1747	DLX3	OMIM:104510
HP:0033127	Abnormality of the musculoskeletal system	401138	AMTN	OMIM:617607
HP:0033127	Abnormality of the musculoskeletal system	1589	CYP21A2	OMIM:201910
HP:0033127	Abnormality of the musculoskeletal system	6492	SIM1	ORPHA:171829
HP:0033127	Abnormality of the musculoskeletal system	6440	SFTPC	ORPHA:685082
HP:0033127	Abnormality of the musculoskeletal system	21	ABCA3	ORPHA:685082
HP:0033127	Abnormality of the musculoskeletal system	6439	SFTPB	ORPHA:685082
HP:0033127	Abnormality of the musculoskeletal system	26503	SLC17A5	OMIM:269920
HP:0033127	Abnormality of the musculoskeletal system	5605	MAP2K2	ORPHA:638
HP:0033127	Abnormality of the musculoskeletal system	26040	SETBP1	ORPHA:798
HP:0033127	Abnormality of the musculoskeletal system	5978	REST	OMIM:617626
HP:0033127	Abnormality of the musculoskeletal system	3476	IGBP1	ORPHA:52055
HP:0033127	Abnormality of the musculoskeletal system	3476	IGBP1	OMIM:300472
HP:0033127	Abnormality of the musculoskeletal system	55969	RAB5IF	OMIM:616994
HP:0033127	Abnormality of the musculoskeletal system	4149	MAX	OMIM:620712
HP:0033127	Abnormality of the musculoskeletal system	10525	HYOU1	OMIM:233600
HP:0033127	Abnormality of the musculoskeletal system	9508	ADAMTS3	ORPHA:2136
HP:0033127	Abnormality of the musculoskeletal system	57211	ADGRG6	OMIM:616503
HP:0033127	Abnormality of the musculoskeletal system	1947	EFNB1	ORPHA:1520
HP:0033127	Abnormality of the musculoskeletal system	1947	EFNB1	OMIM:304110
HP:0033127	Abnormality of the musculoskeletal system	23556	PIGN	ORPHA:2059
HP:0033127	Abnormality of the musculoskeletal system	23556	PIGN	OMIM:614080
HP:0033127	Abnormality of the musculoskeletal system	23414	ZFPM2	OMIM:610187
HP:0033127	Abnormality of the musculoskeletal system	23414	ZFPM2	ORPHA:2140
HP:0033127	Abnormality of the musculoskeletal system	9759	HDAC4	ORPHA:1001
HP:0033127	Abnormality of the musculoskeletal system	2202	EFEMP1	OMIM:620780
HP:0033127	Abnormality of the musculoskeletal system	64220	STRA6	OMIM:601186
HP:0033127	Abnormality of the musculoskeletal system	64220	STRA6	ORPHA:2470
HP:0033127	Abnormality of the musculoskeletal system	7490	WT1	ORPHA:3097
HP:0033127	Abnormality of the musculoskeletal system	7490	WT1	OMIM:194080
HP:0033127	Abnormality of the musculoskeletal system	113179	ADAT3	ORPHA:363528
HP:0033127	Abnormality of the musculoskeletal system	55784	MCTP2	ORPHA:1596
HP:0033127	Abnormality of the musculoskeletal system	8085	KMT2D	ORPHA:2322
HP:0033127	Abnormality of the musculoskeletal system	7403	KDM6A	ORPHA:2322
HP:0033127	Abnormality of the musculoskeletal system	5915	RARB	OMIM:615524
HP:0033127	Abnormality of the musculoskeletal system	5915	RARB	ORPHA:2470
HP:0033127	Abnormality of the musculoskeletal system	5358	PLS3	OMIM:306950
HP:0033127	Abnormality of the musculoskeletal system	51132	RLIM	OMIM:300978
HP:0033127	Abnormality of the musculoskeletal system	51434	ANAPC7	OMIM:619699
HP:0033127	Abnormality of the musculoskeletal system	1147	CHUK	OMIM:613630
HP:0033127	Abnormality of the musculoskeletal system	134701	RIPPLY2	ORPHA:2311
HP:0033127	Abnormality of the musculoskeletal system	10683	DLL3	ORPHA:2311
HP:0033127	Abnormality of the musculoskeletal system	3955	LFNG	ORPHA:2311
HP:0033127	Abnormality of the musculoskeletal system	84667	HES7	ORPHA:2311
HP:0033127	Abnormality of the musculoskeletal system	145873	MESP2	ORPHA:2311
HP:0033127	Abnormality of the musculoskeletal system	2626	GATA4	ORPHA:251071
HP:0033127	Abnormality of the musculoskeletal system	4330	MN1	OMIM:618774
HP:0033127	Abnormality of the musculoskeletal system	25	ABL1	OMIM:617602
HP:0033127	Abnormality of the musculoskeletal system	4036	LRP2	ORPHA:2143
HP:0033127	Abnormality of the musculoskeletal system	4036	LRP2	OMIM:222448
HP:0033127	Abnormality of the musculoskeletal system	10046	MAMLD1	ORPHA:95706
HP:0033127	Abnormality of the musculoskeletal system	57216	VANGL2	ORPHA:563609
HP:0033127	Abnormality of the musculoskeletal system	81788	NUAK2	ORPHA:563609
HP:0033127	Abnormality of the musculoskeletal system	6234	RPS28	OMIM:606164
HP:0033127	Abnormality of the musculoskeletal system	23476	BRD4	ORPHA:199
HP:0033127	Abnormality of the musculoskeletal system	9126	SMC3	ORPHA:199
HP:0033127	Abnormality of the musculoskeletal system	6878	TAF6	ORPHA:199
HP:0033127	Abnormality of the musculoskeletal system	25836	NIPBL	ORPHA:199
HP:0033127	Abnormality of the musculoskeletal system	25836	NIPBL	OMIM:122470
HP:0033127	Abnormality of the musculoskeletal system	55869	HDAC8	ORPHA:199
HP:0033127	Abnormality of the musculoskeletal system	129563	DIS3L2	OMIM:267000
HP:0033127	Abnormality of the musculoskeletal system	340419	RSPO2	OMIM:618022
HP:0033127	Abnormality of the musculoskeletal system	4094	MAF	ORPHA:1272
HP:0033127	Abnormality of the musculoskeletal system	79971	WLS	OMIM:619648
HP:0033127	Abnormality of the musculoskeletal system	6231	RPS26	OMIM:613309
HP:0033127	Abnormality of the musculoskeletal system	745	MYRF	OMIM:618280
HP:0033127	Abnormality of the musculoskeletal system	2239	GPC4	ORPHA:373
HP:0033127	Abnormality of the musculoskeletal system	2239	GPC4	OMIM:312870
HP:0033127	Abnormality of the musculoskeletal system	2719	GPC3	ORPHA:373
HP:0033127	Abnormality of the musculoskeletal system	2719	GPC3	OMIM:312870
HP:0033127	Abnormality of the musculoskeletal system	7477	WNT7B	ORPHA:2470
HP:0033127	Abnormality of the musculoskeletal system	9786	KIAA0586	OMIM:616546
HP:0033127	Abnormality of the musculoskeletal system	51780	KDM3B	OMIM:618846
HP:0033127	Abnormality of the musculoskeletal system	10225	CD96	ORPHA:1308
HP:0033127	Abnormality of the musculoskeletal system	7473	WNT3	OMIM:273395
HP:0033127	Abnormality of the musculoskeletal system	54361	WNT4	OMIM:611812
HP:0033127	Abnormality of the musculoskeletal system	54361	WNT4	ORPHA:139466
HP:0033127	Abnormality of the musculoskeletal system	3239	HOXD13	ORPHA:887
HP:0033127	Abnormality of the musculoskeletal system	26229	B3GAT3	OMIM:245600
HP:0033127	Abnormality of the musculoskeletal system	23040	MYT1L	ORPHA:647799
HP:0033127	Abnormality of the musculoskeletal system	25970	SH2B1	ORPHA:261197
HP:0033127	Abnormality of the musculoskeletal system	8295	TRRAP	OMIM:618454
HP:0033127	Abnormality of the musculoskeletal system	5087	PBX1	OMIM:617641
HP:0033127	Abnormality of the musculoskeletal system	4281	MID1	ORPHA:2745
HP:0033127	Abnormality of the musculoskeletal system	51339	DACT1	ORPHA:63260
HP:0033127	Abnormality of the musculoskeletal system	255758	DYNLT2B	OMIM:617405
HP:0033127	Abnormality of the musculoskeletal system	6909	TBX2	OMIM:618223
HP:0033127	Abnormality of the musculoskeletal system	2137	EXTL3	ORPHA:508533
HP:0033127	Abnormality of the musculoskeletal system	1832	DSP	ORPHA:158687
HP:0033127	Abnormality of the musculoskeletal system	3728	JUP	ORPHA:158687
HP:0033127	Abnormality of the musculoskeletal system	5238	PGM3	ORPHA:443811
HP:0033127	Abnormality of the musculoskeletal system	7355	SLC35A2	ORPHA:356961
HP:0033127	Abnormality of the musculoskeletal system	57122	NUP107	OMIM:618348
HP:0033127	Abnormality of the musculoskeletal system	7518	XRCC4	ORPHA:99812
HP:0033127	Abnormality of the musculoskeletal system	3981	LIG4	ORPHA:99812
HP:0033127	Abnormality of the musculoskeletal system	5447	POR	ORPHA:95699
HP:0033127	Abnormality of the musculoskeletal system	4552	MTRR	ORPHA:2169
HP:0033127	Abnormality of the musculoskeletal system	2720	GLB1	ORPHA:79255
HP:0033127	Abnormality of the musculoskeletal system	10269	ZMPSTE24	ORPHA:90154
HP:0033127	Abnormality of the musculoskeletal system	134218	DNAJC21	ORPHA:811
HP:0033127	Abnormality of the musculoskeletal system	79631	EFL1	ORPHA:811
HP:0033127	Abnormality of the musculoskeletal system	51119	SBDS	ORPHA:811
HP:0033127	Abnormality of the musculoskeletal system	29920	PYCR2	ORPHA:481152
HP:0033127	Abnormality of the musculoskeletal system	28234	SLCO1B3	OMIM:237450
HP:0033127	Abnormality of the musculoskeletal system	10599	SLCO1B1	OMIM:237450
HP:0033127	Abnormality of the musculoskeletal system	5566	PRKACA	ORPHA:289
HP:0033127	Abnormality of the musculoskeletal system	5567	PRKACB	ORPHA:289
HP:0033127	Abnormality of the musculoskeletal system	2735	GLI1	ORPHA:289
HP:0033127	Abnormality of the musculoskeletal system	2121	EVC	ORPHA:289
HP:0033127	Abnormality of the musculoskeletal system	51626	DYNC2LI1	ORPHA:289
HP:0033127	Abnormality of the musculoskeletal system	132884	EVC2	ORPHA:289
HP:0033127	Abnormality of the musculoskeletal system	23111	SPART	ORPHA:101000
HP:0033127	Abnormality of the musculoskeletal system	9184	BUB3	ORPHA:1052
HP:0033127	Abnormality of the musculoskeletal system	699	BUB1	ORPHA:1052
HP:0033127	Abnormality of the musculoskeletal system	9702	CEP57	ORPHA:1052
HP:0033127	Abnormality of the musculoskeletal system	9319	TRIP13	ORPHA:1052
HP:0033127	Abnormality of the musculoskeletal system	701	BUB1B	ORPHA:1052
HP:0033127	Abnormality of the musculoskeletal system	4763	NF1	ORPHA:363700
HP:0033127	Abnormality of the musculoskeletal system	28514	DLL1	ORPHA:93926
HP:0033127	Abnormality of the musculoskeletal system	28514	DLL1	ORPHA:93924
HP:0033127	Abnormality of the musculoskeletal system	28514	DLL1	ORPHA:93925
HP:0033127	Abnormality of the musculoskeletal system	28514	DLL1	ORPHA:220386
HP:0033127	Abnormality of the musculoskeletal system	2253	FGF8	ORPHA:93926
HP:0033127	Abnormality of the musculoskeletal system	2253	FGF8	ORPHA:93924
HP:0033127	Abnormality of the musculoskeletal system	2253	FGF8	ORPHA:93925
HP:0033127	Abnormality of the musculoskeletal system	2253	FGF8	ORPHA:220386
HP:0033127	Abnormality of the musculoskeletal system	6496	SIX3	ORPHA:93926
HP:0033127	Abnormality of the musculoskeletal system	6496	SIX3	ORPHA:93924
HP:0033127	Abnormality of the musculoskeletal system	6496	SIX3	ORPHA:93925
HP:0033127	Abnormality of the musculoskeletal system	6496	SIX3	ORPHA:220386
HP:0033127	Abnormality of the musculoskeletal system	7050	TGIF1	ORPHA:93926
HP:0033127	Abnormality of the musculoskeletal system	7050	TGIF1	ORPHA:93924
HP:0033127	Abnormality of the musculoskeletal system	7050	TGIF1	ORPHA:93925
HP:0033127	Abnormality of the musculoskeletal system	7050	TGIF1	ORPHA:220386
HP:0033127	Abnormality of the musculoskeletal system	4838	NODAL	ORPHA:93926
HP:0033127	Abnormality of the musculoskeletal system	4838	NODAL	ORPHA:93924
HP:0033127	Abnormality of the musculoskeletal system	4838	NODAL	ORPHA:93925
HP:0033127	Abnormality of the musculoskeletal system	4838	NODAL	ORPHA:220386
HP:0033127	Abnormality of the musculoskeletal system	6469	SHH	ORPHA:93926
HP:0033127	Abnormality of the musculoskeletal system	6469	SHH	ORPHA:93924
HP:0033127	Abnormality of the musculoskeletal system	6469	SHH	ORPHA:93925
HP:0033127	Abnormality of the musculoskeletal system	6469	SHH	ORPHA:220386
HP:0033127	Abnormality of the musculoskeletal system	7546	ZIC2	ORPHA:93926
HP:0033127	Abnormality of the musculoskeletal system	7546	ZIC2	ORPHA:93924
HP:0033127	Abnormality of the musculoskeletal system	7546	ZIC2	ORPHA:93925
HP:0033127	Abnormality of the musculoskeletal system	7546	ZIC2	ORPHA:220386
HP:0033127	Abnormality of the musculoskeletal system	6491	STIL	ORPHA:93926
HP:0033127	Abnormality of the musculoskeletal system	6491	STIL	ORPHA:93924
HP:0033127	Abnormality of the musculoskeletal system	6491	STIL	ORPHA:93925
HP:0033127	Abnormality of the musculoskeletal system	6491	STIL	ORPHA:220386
HP:0033127	Abnormality of the musculoskeletal system	2619	GAS1	ORPHA:93926
HP:0033127	Abnormality of the musculoskeletal system	2619	GAS1	ORPHA:93924
HP:0033127	Abnormality of the musculoskeletal system	2619	GAS1	ORPHA:93925
HP:0033127	Abnormality of the musculoskeletal system	2619	GAS1	ORPHA:220386
HP:0033127	Abnormality of the musculoskeletal system	84976	DISP1	ORPHA:93926
HP:0033127	Abnormality of the musculoskeletal system	84976	DISP1	ORPHA:93924
HP:0033127	Abnormality of the musculoskeletal system	84976	DISP1	ORPHA:93925
HP:0033127	Abnormality of the musculoskeletal system	84976	DISP1	ORPHA:220386
HP:0033127	Abnormality of the musculoskeletal system	2736	GLI2	ORPHA:93926
HP:0033127	Abnormality of the musculoskeletal system	2736	GLI2	ORPHA:93924
HP:0033127	Abnormality of the musculoskeletal system	2736	GLI2	ORPHA:93925
HP:0033127	Abnormality of the musculoskeletal system	2736	GLI2	ORPHA:220386
HP:0033127	Abnormality of the musculoskeletal system	8928	FOXH1	ORPHA:93926
HP:0033127	Abnormality of the musculoskeletal system	8928	FOXH1	ORPHA:93924
HP:0033127	Abnormality of the musculoskeletal system	8928	FOXH1	ORPHA:93925
HP:0033127	Abnormality of the musculoskeletal system	8928	FOXH1	ORPHA:220386
HP:0033127	Abnormality of the musculoskeletal system	6997	CRIPTO	ORPHA:93926
HP:0033127	Abnormality of the musculoskeletal system	6997	CRIPTO	ORPHA:93924
HP:0033127	Abnormality of the musculoskeletal system	6997	CRIPTO	ORPHA:93925
HP:0033127	Abnormality of the musculoskeletal system	6997	CRIPTO	ORPHA:220386
HP:0033127	Abnormality of the musculoskeletal system	5727	PTCH1	ORPHA:93926
HP:0033127	Abnormality of the musculoskeletal system	5727	PTCH1	ORPHA:93924
HP:0033127	Abnormality of the musculoskeletal system	5727	PTCH1	ORPHA:93925
HP:0033127	Abnormality of the musculoskeletal system	5727	PTCH1	ORPHA:220386
HP:0033127	Abnormality of the musculoskeletal system	50937	CDON	ORPHA:93926
HP:0033127	Abnormality of the musculoskeletal system	50937	CDON	ORPHA:93924
HP:0033127	Abnormality of the musculoskeletal system	50937	CDON	ORPHA:93925
HP:0033127	Abnormality of the musculoskeletal system	50937	CDON	ORPHA:220386
HP:0033127	Abnormality of the musculoskeletal system	2260	FGFR1	ORPHA:93924
HP:0033127	Abnormality of the musculoskeletal system	2260	FGFR1	ORPHA:220386
HP:0033127	Abnormality of the musculoskeletal system	23007	PLCH1	ORPHA:93925
HP:0033127	Abnormality of the musculoskeletal system	10735	STAG2	ORPHA:93925
HP:0033127	Abnormality of the musculoskeletal system	10735	STAG2	ORPHA:220386
HP:0033127	Abnormality of the musculoskeletal system	54496	PRMT7	ORPHA:464288
HP:0033127	Abnormality of the musculoskeletal system	6711	SPTBN1	OMIM:619475
HP:0033127	Abnormality of the musculoskeletal system	998	CDC42	ORPHA:487796
HP:0033127	Abnormality of the musculoskeletal system	3425	IDUA	ORPHA:93474
HP:0033127	Abnormality of the musculoskeletal system	3425	IDUA	ORPHA:93473
HP:0033127	Abnormality of the musculoskeletal system	5293	PIK3CD	ORPHA:221139
HP:0033127	Abnormality of the musculoskeletal system	90417	KNSTRN	ORPHA:221139
HP:0033127	Abnormality of the musculoskeletal system	189	AGXT	ORPHA:93598
HP:0033127	Abnormality of the musculoskeletal system	56052	ALG1	ORPHA:79327
HP:0033127	Abnormality of the musculoskeletal system	3043	HBB	ORPHA:231222
HP:0033127	Abnormality of the musculoskeletal system	388015	RTL1	ORPHA:96334
HP:0033127	Abnormality of the musculoskeletal system	8788	DLK1	ORPHA:96334
HP:0033127	Abnormality of the musculoskeletal system	55384	MEG3	ORPHA:96334
HP:0033127	Abnormality of the musculoskeletal system	407975	MIR17HG	ORPHA:391646
HP:0033127	Abnormality of the musculoskeletal system	23314	SATB2	ORPHA:576283
HP:0033127	Abnormality of the musculoskeletal system	6748	SSR4	ORPHA:370927
HP:0033127	Abnormality of the musculoskeletal system	142680	SLC34A3	ORPHA:157215
HP:0033127	Abnormality of the musculoskeletal system	6569	SLC34A1	ORPHA:157215
HP:0033127	Abnormality of the musculoskeletal system	8243	SMC1A	ORPHA:220386
HP:0033127	Abnormality of the musculoskeletal system	100151683	RNU4ATAC	ORPHA:2636
HP:0033127	Abnormality of the musculoskeletal system	29929	ALG6	ORPHA:79320
HP:0033127	Abnormality of the musculoskeletal system	8481	OFD1	ORPHA:2750
HP:0033127	Abnormality of the musculoskeletal system	8481	OFD1	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	25981	DNAH1	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	115948	ODAD3	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	54768	HYDIN	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	352909	DNAAF3	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	27148	STK36	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	51314	NME8	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	92749	DRC1	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	54970	TTC12	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	152110	NEK10	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	2302	FOXJ1	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	221421	RSPH9	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	85478	CCDC65	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	55036	CCDC40	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	51364	ZMYND10	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	64446	DNAI2	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	8382	NME5	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	6674	SPAG1	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	83544	DNAL1	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	89765	RSPH1	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	83538	ODAD4	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	200373	CFAP221	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	374407	DNAJB13	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	55172	DNAAF2	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	161582	DNAAF4	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	2622	GAS8	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	23639	DNAAF11	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	27019	DNAI1	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	345895	RSPH4A	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	54919	DNAAF5	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	6103	RPGR	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	85452	CFAP74	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	93233	ODAD1	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	55130	ODAD2	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	1767	DNAH5	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	83861	RSPH3	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	345643	MCIDAS	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	56683	CFAP298	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	79925	SPEF2	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	10309	CCNO	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	115399	LRRC56	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	139212	DNAAF6	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	123872	DNAAF1	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	85016	CFAP300	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	339829	CCDC39	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	8701	DNAH11	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	1770	DNAH9	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	246176	GAS2L2	ORPHA:244
HP:0033127	Abnormality of the musculoskeletal system	23309	SIN3B	ORPHA:500166
HP:0033127	Abnormality of the musculoskeletal system	25942	SIN3A	ORPHA:500166
HP:0033127	Abnormality of the musculoskeletal system	91147	TMEM67	ORPHA:140976
HP:0033127	Abnormality of the musculoskeletal system	3229	HOXC13	OMIM:614931
HP:0033127	Abnormality of the musculoskeletal system	2778	GNAS	ORPHA:57782
HP:0033127	Abnormality of the musculoskeletal system	80816	ASXL3	ORPHA:352577
HP:0033127	Abnormality of the musculoskeletal system	374654	KIF7	ORPHA:166024
HP:0033127	Abnormality of the musculoskeletal system	78989	COLEC11	OMIM:265050
HP:0033127	Abnormality of the musculoskeletal system	7547	ZIC3	OMIM:314390
HP:0033127	Abnormality of the musculoskeletal system	2187	FANCB	OMIM:314390
HP:0033127	Abnormality of the musculoskeletal system	27245	AHDC1	ORPHA:412069
HP:0033127	Abnormality of the musculoskeletal system	9573	GDF3	ORPHA:2345
HP:0033127	Abnormality of the musculoskeletal system	4222	MEOX1	ORPHA:2345
HP:0033127	Abnormality of the musculoskeletal system	26275	HIBCH	OMIM:250620
HP:0033127	Abnormality of the musculoskeletal system	7291	TWIST1	ORPHA:794
HP:0033127	Abnormality of the musculoskeletal system	2077	ERF	ORPHA:207
HP:0033127	Abnormality of the musculoskeletal system	51715	RAB23	ORPHA:65759
HP:0033127	Abnormality of the musculoskeletal system	1954	MEGF8	ORPHA:65759
HP:0033127	Abnormality of the musculoskeletal system	6557	SLC12A1	OMIM:601678
HP:0033127	Abnormality of the musculoskeletal system	486	FXYD2	OMIM:154020
HP:0033127	Abnormality of the musculoskeletal system	3758	KCNJ1	OMIM:241200
HP:0033127	Abnormality of the musculoskeletal system	2767	GNA11	OMIM:145981
HP:0033127	Abnormality of the musculoskeletal system	6559	SLC12A3	OMIM:263800
HP:0033127	Abnormality of the musculoskeletal system	6559	SLC12A3	ORPHA:358
HP:0033127	Abnormality of the musculoskeletal system	9247	GCM2	ORPHA:99879
HP:0033127	Abnormality of the musculoskeletal system	7486	WRN	ORPHA:902
HP:0033127	Abnormality of the musculoskeletal system	1188	CLCNKB	ORPHA:358
HP:0033127	Abnormality of the musculoskeletal system	4982	TNFRSF11B	ORPHA:1416
HP:0033127	Abnormality of the musculoskeletal system	56172	ANKH	ORPHA:1416
HP:0033127	Abnormality of the musculoskeletal system	3373	HYAL1	OMIM:601492
HP:0033127	Abnormality of the musculoskeletal system	4792	NFKBIA	ORPHA:98813
HP:0033127	Abnormality of the musculoskeletal system	2947	GSTM3	ORPHA:586
HP:0033127	Abnormality of the musculoskeletal system	1084	CEACAM3	ORPHA:586
HP:0033127	Abnormality of the musculoskeletal system	6556	SLC11A1	ORPHA:586
HP:0033127	Abnormality of the musculoskeletal system	51164	DCTN4	ORPHA:586
HP:0033127	Abnormality of the musculoskeletal system	3783	KCNN4	ORPHA:586
HP:0033127	Abnormality of the musculoskeletal system	6550	SLC9A3	ORPHA:586
HP:0033127	Abnormality of the musculoskeletal system	3162	HMOX1	ORPHA:586
HP:0033127	Abnormality of the musculoskeletal system	115019	SLC26A9	ORPHA:586
HP:0033127	Abnormality of the musculoskeletal system	11254	SLC6A14	ORPHA:586
HP:0033127	Abnormality of the musculoskeletal system	22802	CLCA4	ORPHA:586
HP:0033127	Abnormality of the musculoskeletal system	4680	CEACAM6	ORPHA:586
HP:0033127	Abnormality of the musculoskeletal system	5618	PRLR	ORPHA:397685
HP:0033127	Abnormality of the musculoskeletal system	6809	STX3	OMIM:619445
HP:0033127	Abnormality of the musculoskeletal system	6809	STX3	OMIM:619446
HP:0033127	Abnormality of the musculoskeletal system	551	AVP	OMIM:125700
HP:0033127	Abnormality of the musculoskeletal system	5205	ATP8B1	OMIM:211600
HP:0033127	Abnormality of the musculoskeletal system	6554	SLC10A1	OMIM:619256
HP:0033127	Abnormality of the musculoskeletal system	4194	MDM4	OMIM:618849
HP:0033127	Abnormality of the musculoskeletal system	55811	ADCY10	ORPHA:2197
HP:0033127	Abnormality of the musculoskeletal system	92345	NAF1	OMIM:620365
HP:0033127	Abnormality of the musculoskeletal system	2100	ESR2	OMIM:618187
HP:0033127	Abnormality of the musculoskeletal system	80270	HSD3B7	ORPHA:79301
HP:0033127	Abnormality of the musculoskeletal system	535	ATP6V0A1	OMIM:619971
HP:0033127	Abnormality of the musculoskeletal system	799	CALCR	OMIM:166710
HP:0033127	Abnormality of the musculoskeletal system	8572	PDLIM4	OMIM:166710
HP:0033127	Abnormality of the musculoskeletal system	6714	SRC	OMIM:616937
HP:0033127	Abnormality of the musculoskeletal system	6689	SPIB	ORPHA:186
HP:0033127	Abnormality of the musculoskeletal system	5450	POU2AF1	ORPHA:186
HP:0033127	Abnormality of the musculoskeletal system	9966	TNFSF15	ORPHA:186
HP:0033127	Abnormality of the musculoskeletal system	79258	MMEL1	ORPHA:186
HP:0033127	Abnormality of the musculoskeletal system	79983	POF1B	OMIM:300604
HP:0033127	Abnormality of the musculoskeletal system	84572	GNPTG	OMIM:252605
HP:0033127	Abnormality of the musculoskeletal system	6448	SGSH	OMIM:252900
HP:0033127	Abnormality of the musculoskeletal system	3423	IDS	OMIM:309900
HP:0033127	Abnormality of the musculoskeletal system	2588	GALNS	OMIM:253000
HP:0033127	Abnormality of the musculoskeletal system	3845	KRAS	ORPHA:2396
HP:0033127	Abnormality of the musculoskeletal system	10020	GNE	ORPHA:3166
HP:0033127	Abnormality of the musculoskeletal system	285362	SUMF1	OMIM:272200
HP:0033127	Abnormality of the musculoskeletal system	26175	LYSET	OMIM:619345
HP:0033127	Abnormality of the musculoskeletal system	4669	NAGLU	OMIM:252920
HP:0033127	Abnormality of the musculoskeletal system	2799	GNS	OMIM:252940
HP:0033127	Abnormality of the musculoskeletal system	5476	CTSA	OMIM:256540
HP:0033127	Abnormality of the musculoskeletal system	4318	MMP9	ORPHA:1040
HP:0033127	Abnormality of the musculoskeletal system	64421	DCLRE1C	ORPHA:39041
HP:0033127	Abnormality of the musculoskeletal system	3575	IL7R	ORPHA:39041
HP:0033127	Abnormality of the musculoskeletal system	3561	IL2RG	ORPHA:39041
HP:0033127	Abnormality of the musculoskeletal system	23630	KCNE5	ORPHA:86818
HP:0033127	Abnormality of the musculoskeletal system	2182	ACSL4	ORPHA:86818
HP:0033127	Abnormality of the musculoskeletal system	9949	AMMECR1	ORPHA:86818
HP:0033127	Abnormality of the musculoskeletal system	64327	LMBR1	ORPHA:931
HP:0033127	Abnormality of the musculoskeletal system	79783	SUGCT	ORPHA:35706
HP:0033127	Abnormality of the musculoskeletal system	716	C1S	OMIM:617174
HP:0033127	Abnormality of the musculoskeletal system	7020	TFAP2A	OMIM:113620
HP:0033127	Abnormality of the musculoskeletal system	7020	TFAP2A	ORPHA:1297
HP:0033127	Abnormality of the musculoskeletal system	10526	IPO8	ORPHA:60030
HP:0033127	Abnormality of the musculoskeletal system	23385	NCSTN	OMIM:142690
HP:0033127	Abnormality of the musculoskeletal system	79053	ALG8	ORPHA:79325
HP:0033127	Abnormality of the musculoskeletal system	6347	CCL2	OMIM:182940
HP:0033127	Abnormality of the musculoskeletal system	56980	PRDM10	ORPHA:122
HP:0033127	Abnormality of the musculoskeletal system	56980	PRDM10	OMIM:620459
HP:0033127	Abnormality of the musculoskeletal system	284252	KCTD1	OMIM:181270
HP:0033127	Abnormality of the musculoskeletal system	55605	KIF21A	ORPHA:994
HP:0033127	Abnormality of the musculoskeletal system	7846	TUBA1A	ORPHA:994
HP:0033127	Abnormality of the musculoskeletal system	6572	SLC18A3	ORPHA:994
HP:0033127	Abnormality of the musculoskeletal system	3655	ITGA6	ORPHA:79403
HP:0033127	Abnormality of the musculoskeletal system	57538	ALPK3	OMIM:618052
HP:0033127	Abnormality of the musculoskeletal system	26227	PHGDH	OMIM:256520
HP:0033127	Abnormality of the musculoskeletal system	4035	LRP1	ORPHA:79100
HP:0033127	Abnormality of the musculoskeletal system	2707	GJB3	ORPHA:317
HP:0033127	Abnormality of the musculoskeletal system	2531	KDSR	ORPHA:317
HP:0033127	Abnormality of the musculoskeletal system	127534	GJB4	ORPHA:317
HP:0033127	Abnormality of the musculoskeletal system	84529	CDIN1	OMIM:615631
HP:0033127	Abnormality of the musculoskeletal system	22858	CILK1	OMIM:612651
HP:0033127	Abnormality of the musculoskeletal system	2192	FBLN1	ORPHA:404451
HP:0033127	Abnormality of the musculoskeletal system	79140	CCDC28B	OMIM:209900
HP:0033127	Abnormality of the musculoskeletal system	894	CCND2	OMIM:615938
HP:0033127	Abnormality of the musculoskeletal system	8550	MAPKAPK5	OMIM:619869
HP:0033127	Abnormality of the musculoskeletal system	9419	CRIPT	OMIM:615789
HP:0033127	Abnormality of the musculoskeletal system	85459	CEP295	OMIM:620767
HP:0033127	Abnormality of the musculoskeletal system	92935	MARS2	OMIM:616430
HP:0033127	Abnormality of the musculoskeletal system	146059	CDAN1	OMIM:224120
HP:0033127	Abnormality of the musculoskeletal system	3207	HOXA11	OMIM:605432
HP:0033127	Abnormality of the musculoskeletal system	285600	KIAA0825	OMIM:618498
HP:0033127	Abnormality of the musculoskeletal system	137392	CIBAR1	OMIM:618219
HP:0033127	Abnormality of the musculoskeletal system	374969	SVBP	OMIM:618569
HP:0033127	Abnormality of the musculoskeletal system	1509	CTSD	OMIM:610127
HP:0033127	Abnormality of the musculoskeletal system	23067	SETD1B	OMIM:619000
HP:0033127	Abnormality of the musculoskeletal system	94	ACVRL1	OMIM:600376
HP:0033127	Abnormality of the musculoskeletal system	3659	IRF1	OMIM:620668
HP:0033127	Abnormality of the musculoskeletal system	2022	ENG	OMIM:187300
HP:0033127	Abnormality of the musculoskeletal system	653509	SFTPA1	OMIM:619611
HP:0033127	Abnormality of the musculoskeletal system	738	VPS51	OMIM:618606
HP:0033127	Abnormality of the musculoskeletal system	6794	STK11	OMIM:175200
HP:0033127	Abnormality of the musculoskeletal system	3857	KRT9	ORPHA:2199
HP:0033127	Abnormality of the musculoskeletal system	3858	KRT10	OMIM:609165
HP:0033127	Abnormality of the musculoskeletal system	1604	CD55	OMIM:226300
HP:0033127	Abnormality of the musculoskeletal system	29895	MYL11	OMIM:619110
HP:0033127	Abnormality of the musculoskeletal system	1139	CHRNA7	ORPHA:199318
HP:0033127	Abnormality of the musculoskeletal system	1139	CHRNA7	OMIM:612001
HP:0033127	Abnormality of the musculoskeletal system	55209	SETD5	ORPHA:404440
HP:0033127	Abnormality of the musculoskeletal system	2731	GLDC	OMIM:605899
HP:0033127	Abnormality of the musculoskeletal system	2593	GAMT	ORPHA:382
HP:0033127	Abnormality of the musculoskeletal system	2593	GAMT	OMIM:612736
HP:0033127	Abnormality of the musculoskeletal system	283489	CHAMP1	OMIM:616579
HP:0033127	Abnormality of the musculoskeletal system	23322	RPGRIP1L	ORPHA:220497
HP:0033127	Abnormality of the musculoskeletal system	23322	RPGRIP1L	ORPHA:1454
HP:0033127	Abnormality of the musculoskeletal system	65062	TMEM237	ORPHA:220497
HP:0033127	Abnormality of the musculoskeletal system	65062	TMEM237	ORPHA:2318
HP:0033127	Abnormality of the musculoskeletal system	65062	TMEM237	ORPHA:475
HP:0033127	Abnormality of the musculoskeletal system	65062	TMEM237	OMIM:614424
HP:0033127	Abnormality of the musculoskeletal system	166378	AFG2A	OMIM:616577
HP:0033127	Abnormality of the musculoskeletal system	54806	AHI1	ORPHA:220493
HP:0033127	Abnormality of the musculoskeletal system	54806	AHI1	ORPHA:475
HP:0033127	Abnormality of the musculoskeletal system	54806	AHI1	OMIM:608629
HP:0033127	Abnormality of the musculoskeletal system	95681	CEP41	ORPHA:220493
HP:0033127	Abnormality of the musculoskeletal system	95681	CEP41	ORPHA:475
HP:0033127	Abnormality of the musculoskeletal system	95681	CEP41	OMIM:614464
HP:0033127	Abnormality of the musculoskeletal system	8029	CUBN	ORPHA:35858
HP:0033127	Abnormality of the musculoskeletal system	81693	AMN	ORPHA:35858
HP:0033127	Abnormality of the musculoskeletal system	79029	AFG2B	OMIM:619616
HP:0033127	Abnormality of the musculoskeletal system	54543	TOMM7	OMIM:620601
HP:0033127	Abnormality of the musculoskeletal system	3340	NDST1	OMIM:616116
HP:0033127	Abnormality of the musculoskeletal system	8493	PPM1D	OMIM:617450
HP:0033127	Abnormality of the musculoskeletal system	9354	UBE4A	OMIM:619639
HP:0033127	Abnormality of the musculoskeletal system	55280	CWF19L1	OMIM:616127
HP:0033127	Abnormality of the musculoskeletal system	2203	FBP1	ORPHA:348
HP:0033127	Abnormality of the musculoskeletal system	2203	FBP1	OMIM:229700
HP:0033127	Abnormality of the musculoskeletal system	54828	BCAS3	OMIM:619641
HP:0033127	Abnormality of the musculoskeletal system	2232	FDXR	ORPHA:543470
HP:0033127	Abnormality of the musculoskeletal system	2904	GRIN2B	OMIM:616139
HP:0033127	Abnormality of the musculoskeletal system	4208	MEF2C	ORPHA:228384
HP:0033127	Abnormality of the musculoskeletal system	4208	MEF2C	OMIM:613443
HP:0033127	Abnormality of the musculoskeletal system	23499	MACF1	OMIM:618325
HP:0033127	Abnormality of the musculoskeletal system	54148	MRPL39	OMIM:620646
HP:0033127	Abnormality of the musculoskeletal system	2744	GLS	OMIM:618328
HP:0033127	Abnormality of the musculoskeletal system	1523	CUX1	OMIM:618330
HP:0033127	Abnormality of the musculoskeletal system	84188	FAR1	OMIM:616154
HP:0033127	Abnormality of the musculoskeletal system	5908	RAP1B	OMIM:620654
HP:0033127	Abnormality of the musculoskeletal system	3155	HMGCL	ORPHA:20
HP:0033127	Abnormality of the musculoskeletal system	3155	HMGCL	OMIM:246450
HP:0033127	Abnormality of the musculoskeletal system	7915	ALDH5A1	ORPHA:22
HP:0033127	Abnormality of the musculoskeletal system	7915	ALDH5A1	OMIM:271980
HP:0033127	Abnormality of the musculoskeletal system	8925	HERC1	OMIM:617011
HP:0033127	Abnormality of the musculoskeletal system	8925	HERC1	ORPHA:457359
HP:0033127	Abnormality of the musculoskeletal system	51259	TMEM216	OMIM:608091
HP:0033127	Abnormality of the musculoskeletal system	51259	TMEM216	ORPHA:2318
HP:0033127	Abnormality of the musculoskeletal system	51259	TMEM216	ORPHA:2754
HP:0033127	Abnormality of the musculoskeletal system	3712	IVD	ORPHA:33
HP:0033127	Abnormality of the musculoskeletal system	5515	PPP2CA	OMIM:618354
HP:0033127	Abnormality of the musculoskeletal system	23114	NFASC	OMIM:618356
HP:0033127	Abnormality of the musculoskeletal system	116461	TSEN15	OMIM:617026
HP:0033127	Abnormality of the musculoskeletal system	51114	ZDHHC9	ORPHA:776
HP:0033127	Abnormality of the musculoskeletal system	65109	UPF3B	ORPHA:776
HP:0033127	Abnormality of the musculoskeletal system	65109	UPF3B	OMIM:300676
HP:0033127	Abnormality of the musculoskeletal system	3651	PDX1	ORPHA:99885
HP:0033127	Abnormality of the musculoskeletal system	3630	INS	ORPHA:99885
HP:0033127	Abnormality of the musculoskeletal system	346171	ZFP57	ORPHA:99886
HP:0033127	Abnormality of the musculoskeletal system	57061	HYMAI	ORPHA:99886
HP:0033127	Abnormality of the musculoskeletal system	5325	PLAGL1	ORPHA:99886
HP:0033127	Abnormality of the musculoskeletal system	22930	RAB3GAP1	OMIM:600118
HP:0033127	Abnormality of the musculoskeletal system	22930	RAB3GAP1	ORPHA:2510
HP:0033127	Abnormality of the musculoskeletal system	3054	HCFC1	OMIM:309541
HP:0033127	Abnormality of the musculoskeletal system	3183	HNRNPC	OMIM:620688
HP:0033127	Abnormality of the musculoskeletal system	7086	TKT	OMIM:617044
HP:0033127	Abnormality of the musculoskeletal system	7086	TKT	ORPHA:488618
HP:0033127	Abnormality of the musculoskeletal system	220296	HEPACAM	OMIM:613926
HP:0033127	Abnormality of the musculoskeletal system	220296	HEPACAM	ORPHA:210548
HP:0033127	Abnormality of the musculoskeletal system	50801	KCNK4	OMIM:618381
HP:0033127	Abnormality of the musculoskeletal system	83480	PUS3	OMIM:617051
HP:0033127	Abnormality of the musculoskeletal system	55697	VAC14	OMIM:617054
HP:0033127	Abnormality of the musculoskeletal system	27107	ZBTB11	OMIM:618383
HP:0033127	Abnormality of the musculoskeletal system	80036	TRPM3	OMIM:620224
HP:0033127	Abnormality of the musculoskeletal system	1457	CSNK2A1	OMIM:617062
HP:0033127	Abnormality of the musculoskeletal system	7204	TRIO	OMIM:617061
HP:0033127	Abnormality of the musculoskeletal system	60558	GUF1	OMIM:617065
HP:0033127	Abnormality of the musculoskeletal system	23112	TNRC6B	OMIM:619243
HP:0033127	Abnormality of the musculoskeletal system	91875	TTC5	OMIM:619244
HP:0033127	Abnormality of the musculoskeletal system	5625	PRODH	OMIM:239500
HP:0033127	Abnormality of the musculoskeletal system	10551	AGR2	OMIM:620233
HP:0033127	Abnormality of the musculoskeletal system	1968	EIF2S3	ORPHA:85282
HP:0033127	Abnormality of the musculoskeletal system	81615	TMEM163	OMIM:620243
HP:0033127	Abnormality of the musculoskeletal system	4860	PNP	ORPHA:760
HP:0033127	Abnormality of the musculoskeletal system	4860	PNP	OMIM:613179
HP:0033127	Abnormality of the musculoskeletal system	25886	POC1A	OMIM:614813
HP:0033127	Abnormality of the musculoskeletal system	283450	HECTD4	OMIM:620250
HP:0033127	Abnormality of the musculoskeletal system	2294	FOXF1	OMIM:265380
HP:0033127	Abnormality of the musculoskeletal system	8450	CUL4B	OMIM:300354
HP:0033127	Abnormality of the musculoskeletal system	6535	SLC6A8	OMIM:300352
HP:0033127	Abnormality of the musculoskeletal system	6535	SLC6A8	ORPHA:52503
HP:0033127	Abnormality of the musculoskeletal system	26960	NBEA	OMIM:619157
HP:0033127	Abnormality of the musculoskeletal system	26128	KIFBP	OMIM:609460
HP:0033127	Abnormality of the musculoskeletal system	26128	KIFBP	ORPHA:66629
HP:0033127	Abnormality of the musculoskeletal system	25821	MTO1	OMIM:614702
HP:0033127	Abnormality of the musculoskeletal system	55788	LMBRD1	OMIM:277380
HP:0033127	Abnormality of the musculoskeletal system	55788	LMBRD1	ORPHA:79284
HP:0033127	Abnormality of the musculoskeletal system	9640	ZNF592	ORPHA:83472
HP:0033127	Abnormality of the musculoskeletal system	2314	FLII	ORPHA:819
HP:0033127	Abnormality of the musculoskeletal system	23096	IQSEC2	ORPHA:819
HP:0033127	Abnormality of the musculoskeletal system	23096	IQSEC2	ORPHA:397933
HP:0033127	Abnormality of the musculoskeletal system	10522	DEAF1	ORPHA:819
HP:0033127	Abnormality of the musculoskeletal system	10522	DEAF1	OMIM:615828
HP:0033127	Abnormality of the musculoskeletal system	10522	DEAF1	OMIM:617171
HP:0033127	Abnormality of the musculoskeletal system	429	ASCL1	ORPHA:99803
HP:0033127	Abnormality of the musculoskeletal system	29072	SETD2	OMIM:620155
HP:0033127	Abnormality of the musculoskeletal system	26153	KIF26A	OMIM:620156
HP:0033127	Abnormality of the musculoskeletal system	9382	COG1	OMIM:611209
HP:0033127	Abnormality of the musculoskeletal system	5080	PAX6	ORPHA:1065
HP:0033127	Abnormality of the musculoskeletal system	3778	KCNMA1	OMIM:609446
HP:0033127	Abnormality of the musculoskeletal system	54675	CRLS1	OMIM:620167
HP:0033127	Abnormality of the musculoskeletal system	23036	ZNF292	OMIM:619188
HP:0033127	Abnormality of the musculoskeletal system	55148	UBR7	OMIM:619189
HP:0033127	Abnormality of the musculoskeletal system	1591	CYP24A1	OMIM:143880
HP:0033127	Abnormality of the musculoskeletal system	56922	MCCC1	OMIM:210200
HP:0033127	Abnormality of the musculoskeletal system	56922	MCCC1	ORPHA:6
HP:0033127	Abnormality of the musculoskeletal system	63894	VIPAS39	OMIM:613404
HP:0033127	Abnormality of the musculoskeletal system	84947	SERAC1	OMIM:614739
HP:0033127	Abnormality of the musculoskeletal system	9653	HS2ST1	OMIM:619194
HP:0033127	Abnormality of the musculoskeletal system	3769	KCNJ13	ORPHA:65
HP:0033127	Abnormality of the musculoskeletal system	343035	RD3	ORPHA:65
HP:0033127	Abnormality of the musculoskeletal system	145226	RDH12	ORPHA:65
HP:0033127	Abnormality of the musculoskeletal system	1406	CRX	ORPHA:65
HP:0033127	Abnormality of the musculoskeletal system	57096	RPGRIP1	ORPHA:65
HP:0033127	Abnormality of the musculoskeletal system	10383	TUBB4B	ORPHA:65
HP:0033127	Abnormality of the musculoskeletal system	85015	USP45	ORPHA:65
HP:0033127	Abnormality of the musculoskeletal system	6121	RPE65	ORPHA:65
HP:0033127	Abnormality of the musculoskeletal system	23418	CRB1	ORPHA:65
HP:0033127	Abnormality of the musculoskeletal system	9657	IQCB1	ORPHA:65
HP:0033127	Abnormality of the musculoskeletal system	23746	AIPL1	ORPHA:65
HP:0033127	Abnormality of the musculoskeletal system	3000	GUCY2D	ORPHA:65
HP:0033127	Abnormality of the musculoskeletal system	9227	LRAT	ORPHA:65
HP:0033127	Abnormality of the musculoskeletal system	55812	SPATA7	ORPHA:65
HP:0033127	Abnormality of the musculoskeletal system	7287	TULP1	ORPHA:65
HP:0033127	Abnormality of the musculoskeletal system	167691	LCA5	ORPHA:65
HP:0033127	Abnormality of the musculoskeletal system	3614	IMPDH1	ORPHA:65
HP:0033127	Abnormality of the musculoskeletal system	51660	MPC1	OMIM:614741
HP:0033127	Abnormality of the musculoskeletal system	84720	PIGO	OMIM:614749
HP:0033127	Abnormality of the musculoskeletal system	3675	ITGA3	OMIM:614748
HP:0033127	Abnormality of the musculoskeletal system	55719	SLF2	OMIM:620184
HP:0033127	Abnormality of the musculoskeletal system	79759	ZNF668	OMIM:620194
HP:0033127	Abnormality of the musculoskeletal system	492	ATP2B3	OMIM:302500
HP:0033127	Abnormality of the musculoskeletal system	6509	SLC1A4	ORPHA:447997
HP:0033127	Abnormality of the musculoskeletal system	6509	SLC1A4	OMIM:616657
HP:0033127	Abnormality of the musculoskeletal system	22907	DHX30	OMIM:617804
HP:0033127	Abnormality of the musculoskeletal system	9894	TELO2	OMIM:616954
HP:0033127	Abnormality of the musculoskeletal system	9230	RAB11B	OMIM:617807
HP:0033127	Abnormality of the musculoskeletal system	3033	HADH	OMIM:231530
HP:0033127	Abnormality of the musculoskeletal system	3033	HADH	OMIM:609975
HP:0033127	Abnormality of the musculoskeletal system	8733	GPAA1	OMIM:617810
HP:0033127	Abnormality of the musculoskeletal system	79848	CSPP1	OMIM:615636
HP:0033127	Abnormality of the musculoskeletal system	79848	CSPP1	ORPHA:475
HP:0033127	Abnormality of the musculoskeletal system	11133	KPTN	OMIM:615637
HP:0033127	Abnormality of the musculoskeletal system	11133	KPTN	ORPHA:397612
HP:0033127	Abnormality of the musculoskeletal system	27034	ACAD8	OMIM:611283
HP:0033127	Abnormality of the musculoskeletal system	27034	ACAD8	ORPHA:79159
HP:0033127	Abnormality of the musculoskeletal system	2782	GNB1	OMIM:616973
HP:0033127	Abnormality of the musculoskeletal system	23732	FRRS1L	OMIM:616981
HP:0033127	Abnormality of the musculoskeletal system	388753	COA6	OMIM:616501
HP:0033127	Abnormality of the musculoskeletal system	9378	NRXN1	OMIM:614325
HP:0033127	Abnormality of the musculoskeletal system	79583	TMEM231	ORPHA:2318
HP:0033127	Abnormality of the musculoskeletal system	79583	TMEM231	ORPHA:2754
HP:0033127	Abnormality of the musculoskeletal system	51524	TMEM138	ORPHA:2318
HP:0033127	Abnormality of the musculoskeletal system	23090	ZNF423	ORPHA:2318
HP:0033127	Abnormality of the musculoskeletal system	57545	CC2D2A	ORPHA:2318
HP:0033127	Abnormality of the musculoskeletal system	57545	CC2D2A	ORPHA:1454
HP:0033127	Abnormality of the musculoskeletal system	326625	MMAB	OMIM:251110
HP:0033127	Abnormality of the musculoskeletal system	6812	STXBP1	OMIM:612164
HP:0033127	Abnormality of the musculoskeletal system	6812	STXBP1	ORPHA:599373
HP:0033127	Abnormality of the musculoskeletal system	55180	LINS1	OMIM:614340
HP:0033127	Abnormality of the musculoskeletal system	85440	DOCK7	ORPHA:411986
HP:0033127	Abnormality of the musculoskeletal system	85440	DOCK7	OMIM:615859
HP:0033127	Abnormality of the musculoskeletal system	57688	ZSWIM6	OMIM:617865
HP:0033127	Abnormality of the musculoskeletal system	10577	NPC2	OMIM:607625
HP:0033127	Abnormality of the musculoskeletal system	8777	MPDZ	OMIM:615219
HP:0033127	Abnormality of the musculoskeletal system	10210	TOPORS	ORPHA:2754
HP:0033127	Abnormality of the musculoskeletal system	5147	PDE6D	ORPHA:2754
HP:0033127	Abnormality of the musculoskeletal system	5147	PDE6D	ORPHA:475
HP:0033127	Abnormality of the musculoskeletal system	317662	FAM149B1	ORPHA:2754
HP:0033127	Abnormality of the musculoskeletal system	10617	STAMBP	OMIM:614261
HP:0033127	Abnormality of the musculoskeletal system	8367	H4C5	OMIM:619950
HP:0033127	Abnormality of the musculoskeletal system	8294	H4C9	OMIM:619951
HP:0033127	Abnormality of the musculoskeletal system	343450	KCNT2	OMIM:617771
HP:0033127	Abnormality of the musculoskeletal system	201595	STT3B	OMIM:615597
HP:0033127	Abnormality of the musculoskeletal system	1355	COX15	OMIM:615119
HP:0033127	Abnormality of the musculoskeletal system	55627	SMPD4	OMIM:618622
HP:0033127	Abnormality of the musculoskeletal system	23417	MLYCD	OMIM:248360
HP:0033127	Abnormality of the musculoskeletal system	65267	WNK3	OMIM:309610
HP:0033127	Abnormality of the musculoskeletal system	790	CAD	OMIM:616457
HP:0033127	Abnormality of the musculoskeletal system	526	ATP6V1B2	OMIM:616455
HP:0033127	Abnormality of the musculoskeletal system	10730	YME1L1	OMIM:617302
HP:0033127	Abnormality of the musculoskeletal system	54681	P4HTM	ORPHA:436141
HP:0033127	Abnormality of the musculoskeletal system	28960	DCPS	OMIM:616459
HP:0033127	Abnormality of the musculoskeletal system	4286	MITF	OMIM:617306
HP:0033127	Abnormality of the musculoskeletal system	55870	ASH1L	OMIM:617796
HP:0033127	Abnormality of the musculoskeletal system	91869	RFT1	ORPHA:244310
HP:0033127	Abnormality of the musculoskeletal system	91869	RFT1	OMIM:612015
HP:0033127	Abnormality of the musculoskeletal system	815	CAMK2A	OMIM:617798
HP:0033127	Abnormality of the musculoskeletal system	815	CAMK2A	OMIM:618095
HP:0033127	Abnormality of the musculoskeletal system	283987	HID1	OMIM:619983
HP:0033127	Abnormality of the musculoskeletal system	497661	C18orf32	OMIM:619985
HP:0033127	Abnormality of the musculoskeletal system	57178	ZMIZ1	OMIM:618659
HP:0033127	Abnormality of the musculoskeletal system	8241	RBM10	OMIM:311900
HP:0033127	Abnormality of the musculoskeletal system	56006	SMG9	OMIM:619995
HP:0033127	Abnormality of the musculoskeletal system	1182	CLCN3	OMIM:619512
HP:0033127	Abnormality of the musculoskeletal system	7862	BRPF1	OMIM:617333
HP:0033127	Abnormality of the musculoskeletal system	54914	FOCAD	OMIM:619991
HP:0033127	Abnormality of the musculoskeletal system	2550	GABBR1	OMIM:620502
HP:0033127	Abnormality of the musculoskeletal system	166785	MMAA	OMIM:251100
HP:0033127	Abnormality of the musculoskeletal system	7750	ZMYM2	OMIM:619522
HP:0033127	Abnormality of the musculoskeletal system	4849	CNOT3	OMIM:618672
HP:0033127	Abnormality of the musculoskeletal system	22	ABCB7	ORPHA:2802
HP:0033127	Abnormality of the musculoskeletal system	22	ABCB7	OMIM:301310
HP:0033127	Abnormality of the musculoskeletal system	57466	SCAF4	OMIM:620511
HP:0033127	Abnormality of the musculoskeletal system	79989	IFT56	OMIM:619534
HP:0033127	Abnormality of the musculoskeletal system	23189	KANK1	OMIM:612900
HP:0033127	Abnormality of the musculoskeletal system	1173	AP2M1	ORPHA:1942
HP:0033127	Abnormality of the musculoskeletal system	1106	CHD2	ORPHA:1942
HP:0033127	Abnormality of the musculoskeletal system	6529	SLC6A1	ORPHA:1942
HP:0033127	Abnormality of the musculoskeletal system	6529	SLC6A1	OMIM:616421
HP:0033127	Abnormality of the musculoskeletal system	8621	CDK13	OMIM:617360
HP:0033127	Abnormality of the musculoskeletal system	27133	KCNH5	OMIM:620537
HP:0033127	Abnormality of the musculoskeletal system	11338	U2AF2	OMIM:620535
HP:0033127	Abnormality of the musculoskeletal system	164	AP1G1	OMIM:619548
HP:0033127	Abnormality of the musculoskeletal system	164	AP1G1	OMIM:619467
HP:0033127	Abnormality of the musculoskeletal system	30000	TNPO2	OMIM:619556
HP:0033127	Abnormality of the musculoskeletal system	57102	FERRY3	OMIM:618221
HP:0033127	Abnormality of the musculoskeletal system	55628	ZNF407	OMIM:619557
HP:0033127	Abnormality of the musculoskeletal system	1908	EDN3	ORPHA:661
HP:0033127	Abnormality of the musculoskeletal system	2668	GDNF	ORPHA:661
HP:0033127	Abnormality of the musculoskeletal system	627	BDNF	ORPHA:661
HP:0033127	Abnormality of the musculoskeletal system	10660	LBX1	ORPHA:661
HP:0033127	Abnormality of the musculoskeletal system	283446	MYO1H	ORPHA:661
HP:0033127	Abnormality of the musculoskeletal system	283446	MYO1H	OMIM:619482
HP:0033127	Abnormality of the musculoskeletal system	5009	OTC	ORPHA:664
HP:0033127	Abnormality of the musculoskeletal system	9179	AP4M1	OMIM:612936
HP:0033127	Abnormality of the musculoskeletal system	9179	AP4M1	ORPHA:280763
HP:0033127	Abnormality of the musculoskeletal system	10166	SLC25A15	OMIM:238970
HP:0033127	Abnormality of the musculoskeletal system	1741	DLG3	OMIM:300850
HP:0033127	Abnormality of the musculoskeletal system	57551	TAOK1	OMIM:619575
HP:0033127	Abnormality of the musculoskeletal system	22796	COG2	OMIM:617395
HP:0033127	Abnormality of the musculoskeletal system	123263	MTFMT	OMIM:618248
HP:0033127	Abnormality of the musculoskeletal system	123263	MTFMT	OMIM:614947
HP:0033127	Abnormality of the musculoskeletal system	4864	NPC1	OMIM:257220
HP:0033127	Abnormality of the musculoskeletal system	2898	GRIK2	OMIM:619580
HP:0033127	Abnormality of the musculoskeletal system	6657	SOX2	OMIM:206900
HP:0033127	Abnormality of the musculoskeletal system	10771	ZMYND11	OMIM:616083
HP:0033127	Abnormality of the musculoskeletal system	139411	PTCHD1	OMIM:300830
HP:0033127	Abnormality of the musculoskeletal system	57003	CCDC47	OMIM:618268
HP:0033127	Abnormality of the musculoskeletal system	51095	TRNT1	OMIM:616084
HP:0033127	Abnormality of the musculoskeletal system	4983	OPHN1	ORPHA:137831
HP:0033127	Abnormality of the musculoskeletal system	118924	FRA10AC1	OMIM:620113
HP:0033127	Abnormality of the musculoskeletal system	8911	CACNA1I	OMIM:620114
HP:0033127	Abnormality of the musculoskeletal system	4781	NFIB	OMIM:618286
HP:0033127	Abnormality of the musculoskeletal system	1795	DOCK3	OMIM:618292
HP:0033127	Abnormality of the musculoskeletal system	27161	AGO2	OMIM:619149
HP:0033127	Abnormality of the musculoskeletal system	8665	EIF3F	OMIM:618295
HP:0033127	Abnormality of the musculoskeletal system	54938	SARS2	OMIM:613845
HP:0033127	Abnormality of the musculoskeletal system	58499	ZNF462	ORPHA:502430
HP:0033127	Abnormality of the musculoskeletal system	10274	STAG1	ORPHA:502434
HP:0033127	Abnormality of the musculoskeletal system	4774	NFIA	OMIM:613735
HP:0033127	Abnormality of the musculoskeletal system	4774	NFIA	ORPHA:401986
HP:0033127	Abnormality of the musculoskeletal system	501	ALDH7A1	OMIM:266100
HP:0033127	Abnormality of the musculoskeletal system	3141	HLCS	OMIM:253270
HP:0033127	Abnormality of the musculoskeletal system	3141	HLCS	ORPHA:79242
HP:0033127	Abnormality of the musculoskeletal system	5689	PSMB1	OMIM:620038
HP:0033127	Abnormality of the musculoskeletal system	63908	NAPB	OMIM:620033
HP:0033127	Abnormality of the musculoskeletal system	116228	COX20	OMIM:619054
HP:0033127	Abnormality of the musculoskeletal system	55107	ANO1	OMIM:620045
HP:0033127	Abnormality of the musculoskeletal system	9377	COX5A	OMIM:619064
HP:0033127	Abnormality of the musculoskeletal system	54476	RNF216	ORPHA:1173
HP:0033127	Abnormality of the musculoskeletal system	124512	METTL23	OMIM:615942
HP:0033127	Abnormality of the musculoskeletal system	10382	TUBB4A	OMIM:612438
HP:0033127	Abnormality of the musculoskeletal system	1174	AP1S1	OMIM:609313
HP:0033127	Abnormality of the musculoskeletal system	112755	STX1B	ORPHA:36387
HP:0033127	Abnormality of the musculoskeletal system	2258	FGF13	ORPHA:36387
HP:0033127	Abnormality of the musculoskeletal system	2258	FGF13	OMIM:301058
HP:0033127	Abnormality of the musculoskeletal system	5091	PC	OMIM:266150
HP:0033127	Abnormality of the musculoskeletal system	22859	ADGRL1	OMIM:620065
HP:0033127	Abnormality of the musculoskeletal system	83475	DOHH	OMIM:620066
HP:0033127	Abnormality of the musculoskeletal system	51611	DPH5	OMIM:620070
HP:0033127	Abnormality of the musculoskeletal system	1654	DDX3X	ORPHA:3338
HP:0033127	Abnormality of the musculoskeletal system	1654	DDX3X	OMIM:300958
HP:0033127	Abnormality of the musculoskeletal system	284217	LAMA1	OMIM:615960
HP:0033127	Abnormality of the musculoskeletal system	284217	LAMA1	ORPHA:370022
HP:0033127	Abnormality of the musculoskeletal system	10430	TMEM147	OMIM:620075
HP:0033127	Abnormality of the musculoskeletal system	3187	HNRNPH1	OMIM:620083
HP:0033127	Abnormality of the musculoskeletal system	147007	TMEM199	OMIM:616829
HP:0033127	Abnormality of the musculoskeletal system	84978	FRMD5	OMIM:620094
HP:0033127	Abnormality of the musculoskeletal system	2703	GJA8	OMIM:612474
HP:0033127	Abnormality of the musculoskeletal system	2702	GJA5	OMIM:612474
HP:0033127	Abnormality of the musculoskeletal system	57017	COQ9	OMIM:614654
HP:0033127	Abnormality of the musculoskeletal system	10664	CTCF	OMIM:615502
HP:0033127	Abnormality of the musculoskeletal system	10664	CTCF	ORPHA:363611
HP:0033127	Abnormality of the musculoskeletal system	3720	JARID2	OMIM:620098
HP:0033127	Abnormality of the musculoskeletal system	51621	KLF13	OMIM:612001
HP:0033127	Abnormality of the musculoskeletal system	29926	GMPPA	OMIM:615510
HP:0033127	Abnormality of the musculoskeletal system	29926	GMPPA	ORPHA:869
HP:0033127	Abnormality of the musculoskeletal system	5332	PLCB4	OMIM:614669
HP:0033127	Abnormality of the musculoskeletal system	5332	PLCB4	OMIM:620458
HP:0033127	Abnormality of the musculoskeletal system	57572	DOCK6	OMIM:614219
HP:0033127	Abnormality of the musculoskeletal system	2464	FRA16E	OMIM:136570
HP:0033127	Abnormality of the musculoskeletal system	490	ATP2B1	OMIM:619910
HP:0033127	Abnormality of the musculoskeletal system	26047	CNTNAP2	ORPHA:163681
HP:0033127	Abnormality of the musculoskeletal system	26047	CNTNAP2	OMIM:610042
HP:0033127	Abnormality of the musculoskeletal system	6519	SLC3A1	ORPHA:163690
HP:0033127	Abnormality of the musculoskeletal system	6519	SLC3A1	ORPHA:163693
HP:0033127	Abnormality of the musculoskeletal system	6591	SNAI2	ORPHA:2884
HP:0033127	Abnormality of the musculoskeletal system	5495	PPM1B	ORPHA:163693
HP:0033127	Abnormality of the musculoskeletal system	79823	CAMKMT	ORPHA:163693
HP:0033127	Abnormality of the musculoskeletal system	9320	TRIP12	OMIM:617752
HP:0033127	Abnormality of the musculoskeletal system	5879	RAC1	OMIM:617751
HP:0033127	Abnormality of the musculoskeletal system	440	ASNS	OMIM:615574
HP:0033127	Abnormality of the musculoskeletal system	1663	DDX11	OMIM:613398
HP:0033127	Abnormality of the musculoskeletal system	9757	KMT2B	OMIM:619934
HP:0033127	Abnormality of the musculoskeletal system	10464	PIBF1	OMIM:617767
HP:0033127	Abnormality of the musculoskeletal system	10464	PIBF1	ORPHA:475
HP:0033127	Abnormality of the musculoskeletal system	2036	EPB41L1	OMIM:614257
HP:0033127	Abnormality of the musculoskeletal system	5994	RFXAP	OMIM:620817
HP:0033127	Abnormality of the musculoskeletal system	23135	KDM6B	OMIM:618505
HP:0033127	Abnormality of the musculoskeletal system	4897	NRCAM	OMIM:619833
HP:0033127	Abnormality of the musculoskeletal system	5927	KDM5A	OMIM:620820
HP:0033127	Abnormality of the musculoskeletal system	1373	CPS1	ORPHA:147
HP:0033127	Abnormality of the musculoskeletal system	9578	CDC42BPB	OMIM:619841
HP:0033127	Abnormality of the musculoskeletal system	387787	LIPT2	OMIM:617668
HP:0033127	Abnormality of the musculoskeletal system	1841	DTYMK	OMIM:619847
HP:0033127	Abnormality of the musculoskeletal system	6487	ST3GAL3	OMIM:615006
HP:0033127	Abnormality of the musculoskeletal system	8239	USP9X	OMIM:300919
HP:0033127	Abnormality of the musculoskeletal system	318	NUDT2	OMIM:619844
HP:0033127	Abnormality of the musculoskeletal system	55650	PIGV	OMIM:239300
HP:0033127	Abnormality of the musculoskeletal system	288	ANK3	OMIM:615493
HP:0033127	Abnormality of the musculoskeletal system	288	ANK3	ORPHA:356996
HP:0033127	Abnormality of the musculoskeletal system	2770	GNAI1	OMIM:619854
HP:0033127	Abnormality of the musculoskeletal system	1105	CHD1	OMIM:617682
HP:0033127	Abnormality of the musculoskeletal system	5528	PPP2R5D	OMIM:616355
HP:0033127	Abnormality of the musculoskeletal system	55065	SLC52A1	OMIM:615026
HP:0033127	Abnormality of the musculoskeletal system	11193	WBP4	OMIM:620852
HP:0033127	Abnormality of the musculoskeletal system	26834	RNU4-2	OMIM:620851
HP:0033127	Abnormality of the musculoskeletal system	5518	PPP2R1A	OMIM:616362
HP:0033127	Abnormality of the musculoskeletal system	5518	PPP2R1A	ORPHA:457284
HP:0033127	Abnormality of the musculoskeletal system	9895	TECPR2	OMIM:615031
HP:0033127	Abnormality of the musculoskeletal system	26038	CHD5	OMIM:619873
HP:0033127	Abnormality of the musculoskeletal system	57680	CHD8	OMIM:615032
HP:0033127	Abnormality of the musculoskeletal system	51692	CPSF3	OMIM:619876
HP:0033127	Abnormality of the musculoskeletal system	56098	PCDHGC4	OMIM:619880
HP:0033127	Abnormality of the musculoskeletal system	27068	PPA2	OMIM:617222
HP:0033127	Abnormality of the musculoskeletal system	4285	MIPEP	OMIM:617228
HP:0033127	Abnormality of the musculoskeletal system	57192	MCOLN1	ORPHA:578
HP:0033127	Abnormality of the musculoskeletal system	57192	MCOLN1	OMIM:252650
HP:0033127	Abnormality of the musculoskeletal system	38	ACAT1	ORPHA:134
HP:0033127	Abnormality of the musculoskeletal system	4351	MPI	OMIM:602579
HP:0033127	Abnormality of the musculoskeletal system	64919	BCL11B	OMIM:617237
HP:0033127	Abnormality of the musculoskeletal system	64919	BCL11B	OMIM:618092
HP:0033127	Abnormality of the musculoskeletal system	1967	EIF2B1	OMIM:603896
HP:0033127	Abnormality of the musculoskeletal system	26173	INTS1	OMIM:618571
HP:0033127	Abnormality of the musculoskeletal system	1642	DDB1	OMIM:619426
HP:0033127	Abnormality of the musculoskeletal system	56896	DPYSL5	OMIM:619435
HP:0033127	Abnormality of the musculoskeletal system	56896	DPYSL5	ORPHA:7
HP:0033127	Abnormality of the musculoskeletal system	53371	NUP54	OMIM:620427
HP:0033127	Abnormality of the musculoskeletal system	54973	INTS11	OMIM:620428
HP:0033127	Abnormality of the musculoskeletal system	6418	SET	OMIM:618106
HP:0033127	Abnormality of the musculoskeletal system	2653	GCSH	OMIM:620423
HP:0033127	Abnormality of the musculoskeletal system	128869	PIGU	OMIM:618590
HP:0033127	Abnormality of the musculoskeletal system	57520	HECW2	OMIM:617268
HP:0033127	Abnormality of the musculoskeletal system	23524	SRRM2	OMIM:620439
HP:0033127	Abnormality of the musculoskeletal system	537	ATP6AP1	OMIM:300972
HP:0033127	Abnormality of the musculoskeletal system	3756	KCNH1	OMIM:135500
HP:0033127	Abnormality of the musculoskeletal system	3756	KCNH1	OMIM:611816
HP:0033127	Abnormality of the musculoskeletal system	3376	IARS1	ORPHA:541423
HP:0033127	Abnormality of the musculoskeletal system	3376	IARS1	OMIM:617093
HP:0033127	Abnormality of the musculoskeletal system	9675	TTI1	OMIM:620445
HP:0033127	Abnormality of the musculoskeletal system	6045	RNF2	OMIM:619460
HP:0033127	Abnormality of the musculoskeletal system	3188	HNRNPH2	OMIM:300986
HP:0033127	Abnormality of the musculoskeletal system	6811	STX5	OMIM:620454
HP:0033127	Abnormality of the musculoskeletal system	1974	EIF4A2	OMIM:620455
HP:0033127	Abnormality of the musculoskeletal system	4548	MTR	OMIM:250940
HP:0033127	Abnormality of the musculoskeletal system	84065	TMEM222	OMIM:619470
HP:0033127	Abnormality of the musculoskeletal system	11212	PLPBP	OMIM:617290
HP:0033127	Abnormality of the musculoskeletal system	4762	NEUROG1	OMIM:620469
HP:0033127	Abnormality of the musculoskeletal system	6050	RNH1	OMIM:620461
HP:0033127	Abnormality of the musculoskeletal system	28952	CCDC22	OMIM:300963
HP:0033127	Abnormality of the musculoskeletal system	28952	CCDC22	ORPHA:7
HP:0033127	Abnormality of the musculoskeletal system	80267	EDEM3	OMIM:619493
HP:0033127	Abnormality of the musculoskeletal system	1496	CTNNA2	OMIM:618174
HP:0033127	Abnormality of the musculoskeletal system	8910	SGCE	OMIM:159900
HP:0033127	Abnormality of the musculoskeletal system	55294	FBXW7	OMIM:620012
HP:0033127	Abnormality of the musculoskeletal system	9898	UBAP2L	OMIM:620494
HP:0033127	Abnormality of the musculoskeletal system	1183	CLCN4	OMIM:300114
HP:0033127	Abnormality of the musculoskeletal system	10466	COG5	OMIM:613612
HP:0033127	Abnormality of the musculoskeletal system	7175	TPR	OMIM:620393
HP:0033127	Abnormality of the musculoskeletal system	3766	KCNJ10	OMIM:612780
HP:0033127	Abnormality of the musculoskeletal system	64207	IRF2BPL	OMIM:618088
HP:0033127	Abnormality of the musculoskeletal system	5119	CHMP1A	OMIM:614961
HP:0033127	Abnormality of the musculoskeletal system	23522	KAT6B	OMIM:606170
HP:0033127	Abnormality of the musculoskeletal system	23522	KAT6B	OMIM:603736
HP:0033127	Abnormality of the musculoskeletal system	23522	KAT6B	ORPHA:3047
HP:0033127	Abnormality of the musculoskeletal system	23325	WASHC4	OMIM:615817
HP:0033127	Abnormality of the musculoskeletal system	80856	LNPK	OMIM:618090
HP:0033127	Abnormality of the musculoskeletal system	84300	UQCC2	OMIM:615824
HP:0033127	Abnormality of the musculoskeletal system	3192	HNRNPU	ORPHA:238769
HP:0033127	Abnormality of the musculoskeletal system	593	BCKDHA	OMIM:248600
HP:0033127	Abnormality of the musculoskeletal system	5063	PAK3	OMIM:300558
HP:0033127	Abnormality of the musculoskeletal system	8022	LHX3	ORPHA:226307
HP:0033127	Abnormality of the musculoskeletal system	79753	SNIP1	OMIM:614501
HP:0033127	Abnormality of the musculoskeletal system	6507	SLC1A3	ORPHA:2131
HP:0033127	Abnormality of the musculoskeletal system	50506	DUOX2	ORPHA:226316
HP:0033127	Abnormality of the musculoskeletal system	50506	DUOX2	ORPHA:95716
HP:0033127	Abnormality of the musculoskeletal system	1910	EDNRB	OMIM:277580
HP:0033127	Abnormality of the musculoskeletal system	10472	ZBTB18	OMIM:612337
HP:0033127	Abnormality of the musculoskeletal system	340024	SLC6A19	ORPHA:2116
HP:0033127	Abnormality of the musculoskeletal system	57393	CLTRN	ORPHA:2116
HP:0033127	Abnormality of the musculoskeletal system	3242	HPD	ORPHA:2118
HP:0033127	Abnormality of the musculoskeletal system	55023	PHIP	ORPHA:589905
HP:0033127	Abnormality of the musculoskeletal system	55023	PHIP	OMIM:617991
HP:0033127	Abnormality of the musculoskeletal system	54704	PDP1	OMIM:608782
HP:0033127	Abnormality of the musculoskeletal system	401	PHOX2A	ORPHA:45358
HP:0033127	Abnormality of the musculoskeletal system	1788	DNMT3A	OMIM:615879
HP:0033127	Abnormality of the musculoskeletal system	55593	OTUD5	OMIM:301056
HP:0033127	Abnormality of the musculoskeletal system	3748	KCNC3	OMIM:605259
HP:0033127	Abnormality of the musculoskeletal system	79644	SRD5A3	OMIM:612379
HP:0033127	Abnormality of the musculoskeletal system	50	ACO2	OMIM:614559
HP:0033127	Abnormality of the musculoskeletal system	63035	BCORL1	OMIM:301029
HP:0033127	Abnormality of the musculoskeletal system	80746	TSEN2	OMIM:612389
HP:0033127	Abnormality of the musculoskeletal system	4361	MRE11	OMIM:604391
HP:0033127	Abnormality of the musculoskeletal system	79576	NKAP	OMIM:301039
HP:0033127	Abnormality of the musculoskeletal system	83696	TRAPPC9	ORPHA:352530
HP:0033127	Abnormality of the musculoskeletal system	56479	KCNQ5	OMIM:617601
HP:0033127	Abnormality of the musculoskeletal system	23152	CIC	OMIM:617600
HP:0033127	Abnormality of the musculoskeletal system	157680	VPS13B	ORPHA:193
HP:0033127	Abnormality of the musculoskeletal system	157680	VPS13B	OMIM:216550
HP:0033127	Abnormality of the musculoskeletal system	51520	LARS1	OMIM:615438
HP:0033127	Abnormality of the musculoskeletal system	4329	ALDH6A1	OMIM:614105
HP:0033127	Abnormality of the musculoskeletal system	60528	ELAC2	OMIM:615440
HP:0033127	Abnormality of the musculoskeletal system	80210	ARMC9	OMIM:617622
HP:0033127	Abnormality of the musculoskeletal system	80210	ARMC9	ORPHA:475
HP:0033127	Abnormality of the musculoskeletal system	5294	PIK3CG	OMIM:619802
HP:0033127	Abnormality of the musculoskeletal system	113246	C12orf57	OMIM:218340
HP:0033127	Abnormality of the musculoskeletal system	8625	RFXANK	OMIM:620815
HP:0033127	Abnormality of the musculoskeletal system	4099	MAG	OMIM:616680
HP:0033127	Abnormality of the musculoskeletal system	51126	NAA20	OMIM:619717
HP:0033127	Abnormality of the musculoskeletal system	4056	LTC4S	OMIM:614037
HP:0033127	Abnormality of the musculoskeletal system	27102	EIF2AK1	OMIM:618878
HP:0033127	Abnormality of the musculoskeletal system	6660	SOX5	ORPHA:313892
HP:0033127	Abnormality of the musculoskeletal system	9698	PUM1	OMIM:620719
HP:0033127	Abnormality of the musculoskeletal system	51319	RSRC1	OMIM:618402
HP:0033127	Abnormality of the musculoskeletal system	39	ACAT2	OMIM:614055
HP:0033127	Abnormality of the musculoskeletal system	79600	TCTN1	ORPHA:475
HP:0033127	Abnormality of the musculoskeletal system	200894	ARL13B	ORPHA:475
HP:0033127	Abnormality of the musculoskeletal system	200894	ARL13B	OMIM:612291
HP:0033127	Abnormality of the musculoskeletal system	9731	CEP104	ORPHA:475
HP:0033127	Abnormality of the musculoskeletal system	219844	HYLS1	ORPHA:475
HP:0033127	Abnormality of the musculoskeletal system	23247	KATNIP	ORPHA:475
HP:0033127	Abnormality of the musculoskeletal system	219854	TMEM218	ORPHA:475
HP:0033127	Abnormality of the musculoskeletal system	79867	TCTN2	ORPHA:475
HP:0033127	Abnormality of the musculoskeletal system	79867	TCTN2	OMIM:616654
HP:0033127	Abnormality of the musculoskeletal system	80776	B9D2	ORPHA:475
HP:0033127	Abnormality of the musculoskeletal system	23116	TOGARAM1	ORPHA:475
HP:0033127	Abnormality of the musculoskeletal system	25776	CBY1	ORPHA:475
HP:0033127	Abnormality of the musculoskeletal system	27077	B9D1	ORPHA:475
HP:0033127	Abnormality of the musculoskeletal system	27077	B9D1	OMIM:617120
HP:0033127	Abnormality of the musculoskeletal system	403	ARL3	ORPHA:475
HP:0033127	Abnormality of the musculoskeletal system	7531	YWHAE	ORPHA:217385
HP:0033127	Abnormality of the musculoskeletal system	8021	NUP214	OMIM:618426
HP:0033127	Abnormality of the musculoskeletal system	2643	GCH1	OMIM:233910
HP:0033127	Abnormality of the musculoskeletal system	8364	H4C3	OMIM:619758
HP:0033127	Abnormality of the musculoskeletal system	59336	PRDM13	OMIM:619761
HP:0033127	Abnormality of the musculoskeletal system	54487	DGCR8	OMIM:192430
HP:0033127	Abnormality of the musculoskeletal system	8214	DGCR6	OMIM:192430
HP:0033127	Abnormality of the musculoskeletal system	8220	ESS2	OMIM:192430
HP:0033127	Abnormality of the musculoskeletal system	9993	DGCR2	OMIM:192430
HP:0033127	Abnormality of the musculoskeletal system	9338	TCEAL1	OMIM:301094
HP:0033127	Abnormality of the musculoskeletal system	7030	TFE3	OMIM:301066
HP:0033127	Abnormality of the musculoskeletal system	23162	MAPK8IP3	OMIM:618443
HP:0033127	Abnormality of the musculoskeletal system	4123	MAN2C1	OMIM:619775
HP:0033127	Abnormality of the musculoskeletal system	54941	RNF125	OMIM:616260
HP:0033127	Abnormality of the musculoskeletal system	51645	PPIL1	OMIM:619301
HP:0033127	Abnormality of the musculoskeletal system	51362	CDC40	OMIM:619302
HP:0033127	Abnormality of the musculoskeletal system	1892	ECHS1	OMIM:616277
HP:0033127	Abnormality of the musculoskeletal system	51013	EXOSC1	OMIM:619304
HP:0033127	Abnormality of the musculoskeletal system	27145	FILIP1	OMIM:620775
HP:0033127	Abnormality of the musculoskeletal system	78987	CRELD1	OMIM:620771
HP:0033127	Abnormality of the musculoskeletal system	9900	SV2A	OMIM:620772
HP:0033127	Abnormality of the musculoskeletal system	79944	L2HGDH	ORPHA:79314
HP:0033127	Abnormality of the musculoskeletal system	5898	RALA	OMIM:619311
HP:0033127	Abnormality of the musculoskeletal system	9256	TSPOAP1	ORPHA:101150
HP:0033127	Abnormality of the musculoskeletal system	7054	TH	ORPHA:101150
HP:0033127	Abnormality of the musculoskeletal system	84320	ACBD6	OMIM:620785
HP:0033127	Abnormality of the musculoskeletal system	11267	SNF8	OMIM:620783
HP:0033127	Abnormality of the musculoskeletal system	51601	LIPT1	OMIM:616299
HP:0033127	Abnormality of the musculoskeletal system	23030	KDM4B	OMIM:619320
HP:0033127	Abnormality of the musculoskeletal system	157922	CAMSAP1	OMIM:620316
HP:0033127	Abnormality of the musculoskeletal system	8869	ST3GAL5	OMIM:609056
HP:0033127	Abnormality of the musculoskeletal system	161725	OTUD7A	OMIM:620790
HP:0033127	Abnormality of the musculoskeletal system	1725	DHPS	OMIM:618480
HP:0033127	Abnormality of the musculoskeletal system	25929	GEMIN5	OMIM:619333
HP:0033127	Abnormality of the musculoskeletal system	2560	GABRB1	OMIM:617153
HP:0033127	Abnormality of the musculoskeletal system	23221	RHOBTB2	OMIM:618004
HP:0033127	Abnormality of the musculoskeletal system	1108	CHD4	OMIM:617159
HP:0033127	Abnormality of the musculoskeletal system	9969	MED13	OMIM:618009
HP:0033127	Abnormality of the musculoskeletal system	10157	AASS	OMIM:238700
HP:0033127	Abnormality of the musculoskeletal system	23389	MED13L	ORPHA:369891
HP:0033127	Abnormality of the musculoskeletal system	26276	VPS33B	OMIM:208085
HP:0033127	Abnormality of the musculoskeletal system	1822	ATN1	OMIM:618494
HP:0033127	Abnormality of the musculoskeletal system	4126	MANBA	OMIM:248510
HP:0033127	Abnormality of the musculoskeletal system	64864	RFX7	OMIM:620330
HP:0033127	Abnormality of the musculoskeletal system	5457	POU4F1	OMIM:619352
HP:0033127	Abnormality of the musculoskeletal system	26005	C2CD3	ORPHA:434179
HP:0033127	Abnormality of the musculoskeletal system	57514	ARHGAP31	OMIM:100300
HP:0033127	Abnormality of the musculoskeletal system	55210	ATAD3A	OMIM:617183
HP:0033127	Abnormality of the musculoskeletal system	55210	ATAD3A	OMIM:618810
HP:0033127	Abnormality of the musculoskeletal system	128240	NAXE	OMIM:617186
HP:0033127	Abnormality of the musculoskeletal system	539	ATP5PO	OMIM:620359
HP:0033127	Abnormality of the musculoskeletal system	1984	EIF5A	OMIM:619376
HP:0033127	Abnormality of the musculoskeletal system	10295	BCKDK	OMIM:614923
HP:0033127	Abnormality of the musculoskeletal system	55074	OXR1	OMIM:213000
HP:0033127	Abnormality of the musculoskeletal system	27072	VPS41	OMIM:619389
HP:0033127	Abnormality of the musculoskeletal system	9054	NFS1	OMIM:619386
HP:0033127	Abnormality of the musculoskeletal system	55777	MBD5	ORPHA:228402
HP:0033127	Abnormality of the musculoskeletal system	9442	MED27	OMIM:619286
HP:0033127	Abnormality of the musculoskeletal system	3899	AFF3	OMIM:619297
HP:0033127	Abnormality of the musculoskeletal system	36	ACADSB	OMIM:610006
HP:0033127	Abnormality of the musculoskeletal system	26523	AGO1	OMIM:620292
HP:0033127	Abnormality of the musculoskeletal system	132158	GLYCTK	OMIM:220120
HP:0033127	Abnormality of the musculoskeletal system	4338	MOCS2	OMIM:252160
HP:0033127	Abnormality of the musculoskeletal system	93210	PGAP3	OMIM:615716
HP:0033127	Abnormality of the musculoskeletal system	471	ATIC	OMIM:608688
HP:0033127	Abnormality of the musculoskeletal system	254065	BRWD3	OMIM:300659
HP:0033127	Abnormality of the musculoskeletal system	1384	CRAT	OMIM:617917
HP:0033127	Abnormality of the musculoskeletal system	85021	REPS1	OMIM:617916
HP:0033127	Abnormality of the musculoskeletal system	7545	ZIC1	OMIM:616602
HP:0033127	Abnormality of the musculoskeletal system	27249	MMADHC	OMIM:277410
HP:0033127	Abnormality of the musculoskeletal system	5859	QARS1	OMIM:615760
HP:0033127	Abnormality of the musculoskeletal system	7280	TUBB2A	OMIM:615763
HP:0033127	Abnormality of the musculoskeletal system	51116	MRPS2	OMIM:617950
HP:0033127	Abnormality of the musculoskeletal system	405753	DUOXA2	ORPHA:95716
HP:0033127	Abnormality of the musculoskeletal system	6528	SLC5A5	ORPHA:95716
HP:0033127	Abnormality of the musculoskeletal system	7038	TG	ORPHA:95716
HP:0033127	Abnormality of the musculoskeletal system	7173	TPO	ORPHA:95716
HP:0033127	Abnormality of the musculoskeletal system	389434	IYD	ORPHA:95716
HP:0033127	Abnormality of the musculoskeletal system	54664	TMEM106B	OMIM:617964
HP:0033127	Abnormality of the musculoskeletal system	27010	TPK1	OMIM:614458
HP:0033127	Abnormality of the musculoskeletal system	5162	PDHB	ORPHA:255138
HP:0033127	Abnormality of the musculoskeletal system	51305	KCNK9	OMIM:612292
HP:0033127	Abnormality of the musculoskeletal system	55704	CCDC88A	OMIM:617507
HP:0033127	Abnormality of the musculoskeletal system	25974	MMACHC	ORPHA:79282
HP:0033127	Abnormality of the musculoskeletal system	25974	MMACHC	OMIM:277400
HP:0033127	Abnormality of the musculoskeletal system	5718	PSMD12	OMIM:617516
HP:0033127	Abnormality of the musculoskeletal system	51733	UPB1	OMIM:613161
HP:0033127	Abnormality of the musculoskeletal system	18	ABAT	OMIM:613163
HP:0033127	Abnormality of the musculoskeletal system	79587	CARS2	OMIM:616672
HP:0033127	Abnormality of the musculoskeletal system	9181	ARHGEF2	OMIM:617523
HP:0033127	Abnormality of the musculoskeletal system	5052	PRDX1	OMIM:277400
HP:0033127	Abnormality of the musculoskeletal system	2582	GALE	OMIM:230350
HP:0033127	Abnormality of the musculoskeletal system	6873	TAF2	OMIM:615599
HP:0033127	Abnormality of the musculoskeletal system	6873	TAF2	ORPHA:397951
HP:0033127	Abnormality of the musculoskeletal system	64834	ELOVL1	OMIM:618527
HP:0033127	Abnormality of the musculoskeletal system	10111	RAD50	OMIM:613078
HP:0033127	Abnormality of the musculoskeletal system	5833	PCYT2	OMIM:618770
HP:0033127	Abnormality of the musculoskeletal system	79991	STN1	OMIM:617341
HP:0033127	Abnormality of the musculoskeletal system	6621	SNAPC4	OMIM:620515
HP:0033127	Abnormality of the musculoskeletal system	146227	BEAN1	ORPHA:217012
HP:0033127	Abnormality of the musculoskeletal system	4733	DRG1	OMIM:620641
HP:0033127	Abnormality of the musculoskeletal system	120	ADD3	OMIM:617008
HP:0033127	Abnormality of the musculoskeletal system	4695	NDUFA2	OMIM:618235
HP:0033127	Abnormality of the musculoskeletal system	8890	EIF2B4	OMIM:620314
HP:0033127	Abnormality of the musculoskeletal system	51704	GPRC5B	OMIM:620447
HP:0033127	Abnormality of the musculoskeletal system	361	AQP4	OMIM:620448
HP:0033127	Abnormality of the musculoskeletal system	549	AUH	OMIM:250950
HP:0033127	Abnormality of the musculoskeletal system	27316	RBMX	OMIM:309555
HP:0033127	Abnormality of the musculoskeletal system	2009	EML1	OMIM:600348
HP:0033127	Abnormality of the musculoskeletal system	9758	FRMPD4	OMIM:300983
HP:0033127	Abnormality of the musculoskeletal system	378884	NHLRC1	ORPHA:501
HP:0033127	Abnormality of the musculoskeletal system	7957	EPM2A	ORPHA:501
HP:0033127	Abnormality of the musculoskeletal system	83700	JAM3	OMIM:613730
HP:0033127	Abnormality of the musculoskeletal system	9915	ARNT2	OMIM:615926
HP:0033127	Abnormality of the musculoskeletal system	1351	COX8A	OMIM:619059
HP:0033127	Abnormality of the musculoskeletal system	724066	ATXN8	ORPHA:98760
HP:0033127	Abnormality of the musculoskeletal system	724066	ATXN8	OMIM:608768
HP:0033127	Abnormality of the musculoskeletal system	6315	ATXN8OS	ORPHA:98760
HP:0033127	Abnormality of the musculoskeletal system	6315	ATXN8OS	OMIM:608768
HP:0033127	Abnormality of the musculoskeletal system	2891	GRIA2	OMIM:618917
HP:0033127	Abnormality of the musculoskeletal system	2058	EPRS1	OMIM:617951
HP:0033127	Abnormality of the musculoskeletal system	84693	MCEE	OMIM:251120
HP:0033127	Abnormality of the musculoskeletal system	56978	PRDM8	OMIM:616640
HP:0033127	Abnormality of the musculoskeletal system	81689	ISCA1	OMIM:617613
HP:0033127	Abnormality of the musculoskeletal system	22934	RPIA	OMIM:608611
HP:0033127	Abnormality of the musculoskeletal system	23209	MLC1	OMIM:604004
HP:0033127	Abnormality of the musculoskeletal system	84631	SLITRK2	OMIM:301107
HP:0033127	Abnormality of the musculoskeletal system	55182	RNF220	OMIM:619688
HP:0033127	Abnormality of the musculoskeletal system	5723	PSPH	OMIM:614023
HP:0033127	Abnormality of the musculoskeletal system	5723	PSPH	ORPHA:79350
HP:0033127	Abnormality of the musculoskeletal system	55532	SLC30A10	ORPHA:309854
HP:0033127	Abnormality of the musculoskeletal system	1119	CHKA	OMIM:620023
HP:0033127	Abnormality of the musculoskeletal system	51218	GLRX5	ORPHA:401866
HP:0033127	Abnormality of the musculoskeletal system	6531	SLC6A3	ORPHA:238455
HP:0033127	Abnormality of the musculoskeletal system	6531	SLC6A3	OMIM:613135
HP:0033127	Abnormality of the musculoskeletal system	55163	PNPO	ORPHA:79096
HP:0033127	Abnormality of the musculoskeletal system	55163	PNPO	OMIM:610090
HP:0033127	Abnormality of the musculoskeletal system	51324	SPG21	OMIM:248900
HP:0033127	Abnormality of the musculoskeletal system	9692	PRORP	OMIM:619737
HP:0033127	Abnormality of the musculoskeletal system	283989	TSEN54	ORPHA:166063
HP:0033127	Abnormality of the musculoskeletal system	283989	TSEN54	OMIM:225753
HP:0033127	Abnormality of the musculoskeletal system	26053	AUTS2	ORPHA:352490
HP:0033127	Abnormality of the musculoskeletal system	26053	AUTS2	OMIM:615834
HP:0033127	Abnormality of the musculoskeletal system	25930	PTPN23	OMIM:618890
HP:0033127	Abnormality of the musculoskeletal system	1267	CNP	OMIM:619071
HP:0033127	Abnormality of the musculoskeletal system	1727	CYB5R3	OMIM:250800
HP:0033127	Abnormality of the musculoskeletal system	1727	CYB5R3	ORPHA:621
HP:0033127	Abnormality of the musculoskeletal system	6558	SLC12A2	OMIM:619083
HP:0033127	Abnormality of the musculoskeletal system	3800	KIF5C	OMIM:615282
HP:0033127	Abnormality of the musculoskeletal system	9440	MED17	OMIM:613668
HP:0033127	Abnormality of the musculoskeletal system	5092	PCBD1	OMIM:264070
HP:0033127	Abnormality of the musculoskeletal system	5092	PCBD1	ORPHA:1578
HP:0033127	Abnormality of the musculoskeletal system	10452	TOMM40	ORPHA:1020
HP:0033127	Abnormality of the musculoskeletal system	10347	ABCA7	ORPHA:1020
HP:0033127	Abnormality of the musculoskeletal system	6653	SORL1	ORPHA:1020
HP:0033127	Abnormality of the musculoskeletal system	9445	ITM2B	OMIM:176500
HP:0033127	Abnormality of the musculoskeletal system	84894	LINGO1	OMIM:618103
HP:0033127	Abnormality of the musculoskeletal system	85476	GFM1	OMIM:609060
HP:0033127	Abnormality of the musculoskeletal system	3786	KCNQ3	ORPHA:306
HP:0033127	Abnormality of the musculoskeletal system	5309	PITX3	OMIM:610623
HP:0033127	Abnormality of the musculoskeletal system	56521	DNAJC12	OMIM:617384
HP:0033127	Abnormality of the musculoskeletal system	23291	FBXW11	OMIM:618914
HP:0033127	Abnormality of the musculoskeletal system	29968	PSAT1	OMIM:610992
HP:0033127	Abnormality of the musculoskeletal system	29968	PSAT1	ORPHA:284417
HP:0033127	Abnormality of the musculoskeletal system	79068	FTO	OMIM:612938
HP:0033127	Abnormality of the musculoskeletal system	10588	MTHFS	OMIM:618367
HP:0033127	Abnormality of the musculoskeletal system	63925	ZNF335	OMIM:615095
HP:0033127	Abnormality of the musculoskeletal system	23229	ARHGEF9	ORPHA:163985
HP:0033127	Abnormality of the musculoskeletal system	23229	ARHGEF9	OMIM:300607
HP:0033127	Abnormality of the musculoskeletal system	6821	SUOX	OMIM:272300
HP:0033127	Abnormality of the musculoskeletal system	27031	NPHP3	OMIM:267010
HP:0033127	Abnormality of the musculoskeletal system	5873	RAB27A	ORPHA:79477
HP:0033127	Abnormality of the musculoskeletal system	8405	SPOP	OMIM:618828
HP:0033127	Abnormality of the musculoskeletal system	162417	NAGS	OMIM:237310
HP:0033127	Abnormality of the musculoskeletal system	79143	MBOAT7	OMIM:617188
HP:0033127	Abnormality of the musculoskeletal system	4190	MDH1	OMIM:618959
HP:0033127	Abnormality of the musculoskeletal system	3516	RBPJ	ORPHA:974
HP:0033127	Abnormality of the musculoskeletal system	4851	NOTCH1	ORPHA:974
HP:0033127	Abnormality of the musculoskeletal system	285203	EOGT	ORPHA:974
HP:0033127	Abnormality of the musculoskeletal system	55691	FRMD4A	ORPHA:466688
HP:0033127	Abnormality of the musculoskeletal system	23636	NUP62	ORPHA:225154
HP:0033127	Abnormality of the musculoskeletal system	3739	KCNA4	OMIM:618284
HP:0033127	Abnormality of the musculoskeletal system	85378	TUBGCP6	ORPHA:2518
HP:0033127	Abnormality of the musculoskeletal system	27229	TUBGCP4	ORPHA:2518
HP:0033127	Abnormality of the musculoskeletal system	51075	TMX2	OMIM:618730
HP:0033127	Abnormality of the musculoskeletal system	8942	KYNU	ORPHA:79155
HP:0033127	Abnormality of the musculoskeletal system	140803	TRPM6	OMIM:602014
HP:0033127	Abnormality of the musculoskeletal system	5741	PTH	OMIM:146200
HP:0033127	Abnormality of the musculoskeletal system	2625	GATA3	OMIM:146255
HP:0033127	Abnormality of the musculoskeletal system	10686	CLDN16	OMIM:248250
HP:0033127	Abnormality of the musculoskeletal system	58528	RRAGD	OMIM:620152
HP:0033127	Abnormality of the musculoskeletal system	100131801	PET100	OMIM:619055
HP:0033127	Abnormality of the musculoskeletal system	3098	HK1	OMIM:618547
HP:0033127	Abnormality of the musculoskeletal system	9373	PLAA	ORPHA:521426
HP:0033127	Abnormality of the musculoskeletal system	9373	PLAA	OMIM:617527
HP:0033127	Abnormality of the musculoskeletal system	2934	GSN	OMIM:105120
HP:0033127	Abnormality of the musculoskeletal system	2937	GSS	OMIM:266130
HP:0033127	Abnormality of the musculoskeletal system	29960	MRM2	OMIM:618567
HP:0033127	Abnormality of the musculoskeletal system	50651	SLC45A1	OMIM:617532
HP:0033127	Abnormality of the musculoskeletal system	51569	UFM1	OMIM:617899
HP:0033127	Abnormality of the musculoskeletal system	1024	CDK8	OMIM:618748
HP:0033127	Abnormality of the musculoskeletal system	6228	RPS23	OMIM:617412
HP:0033127	Abnormality of the musculoskeletal system	9254	CACNA2D2	OMIM:618501
HP:0033127	Abnormality of the musculoskeletal system	116931	MED12L	OMIM:618872
HP:0033127	Abnormality of the musculoskeletal system	10026	PIGK	OMIM:618879
HP:0033127	Abnormality of the musculoskeletal system	55904	KMT2E	OMIM:618512
HP:0033127	Abnormality of the musculoskeletal system	2590	GALNT2	OMIM:618885
HP:0033127	Abnormality of the musculoskeletal system	8879	SGPL1	OMIM:617575
HP:0033127	Abnormality of the musculoskeletal system	122961	ISCA2	OMIM:616370
HP:0033127	Abnormality of the musculoskeletal system	7358	UGDH	OMIM:618792
HP:0033127	Abnormality of the musculoskeletal system	9922	IQSEC1	OMIM:618687
HP:0033127	Abnormality of the musculoskeletal system	2562	GABRB3	OMIM:617113
HP:0033127	Abnormality of the musculoskeletal system	5587	PRKD1	OMIM:617364
HP:0033127	Abnormality of the musculoskeletal system	9488	PIGB	OMIM:618580
HP:0033127	Abnormality of the musculoskeletal system	201163	FLCN	OMIM:610883
HP:0033127	Abnormality of the musculoskeletal system	1781	DYNC1I2	OMIM:618492
HP:0033127	Abnormality of the musculoskeletal system	56776	FMN2	OMIM:616193
HP:0033127	Abnormality of the musculoskeletal system	63931	MRPS14	OMIM:618378
HP:0033127	Abnormality of the musculoskeletal system	64849	SLC13A3	OMIM:618384
HP:0033127	Abnormality of the musculoskeletal system	348180	CTU2	OMIM:618142
HP:0033127	Abnormality of the musculoskeletal system	90522	YIF1B	OMIM:619125
HP:0033127	Abnormality of the musculoskeletal system	5058	PAK1	OMIM:618158
HP:0033127	Abnormality of the musculoskeletal system	22983	MAST1	OMIM:618273
HP:0033127	Abnormality of the musculoskeletal system	6095	RORA	OMIM:618060
HP:0033127	Abnormality of the musculoskeletal system	6341	SCO1	OMIM:619048
HP:0033127	Abnormality of the musculoskeletal system	1185	CLCN6	OMIM:619173
HP:0033127	Abnormality of the musculoskeletal system	2615	LRRC32	OMIM:619074
HP:0033127	Abnormality of the musculoskeletal system	25814	ATXN10	ORPHA:98761
HP:0033127	Abnormality of the musculoskeletal system	5340	PLG	OMIM:217090
HP:0033127	Abnormality of the musculoskeletal system	51322	WAC	OMIM:616708
HP:0033127	Abnormality of the musculoskeletal system	53616	ADAM22	OMIM:617933
HP:0033127	Abnormality of the musculoskeletal system	10943	MSL3	OMIM:301032
HP:0033127	Abnormality of the musculoskeletal system	23443	SLC35A3	OMIM:615553
HP:0033127	Abnormality of the musculoskeletal system	64857	PLEKHG2	OMIM:616763
HP:0033127	Abnormality of the musculoskeletal system	28957	MRPS28	OMIM:618958
HP:0033127	Abnormality of the musculoskeletal system	54802	TRIT1	OMIM:617873
HP:0033127	Abnormality of the musculoskeletal system	4848	CNOT2	OMIM:618608
HP:0033127	Abnormality of the musculoskeletal system	4858	NOVA2	OMIM:618859
HP:0033127	Abnormality of the musculoskeletal system	1460	CSNK2B	OMIM:618732
HP:0033127	Abnormality of the musculoskeletal system	22868	FASTKD2	OMIM:618855
HP:0033127	Abnormality of the musculoskeletal system	51021	MRPS16	OMIM:610498
HP:0033127	Abnormality of the musculoskeletal system	375748	ERCC6L2	OMIM:615715
HP:0033127	Abnormality of the musculoskeletal system	8050	PDHX	OMIM:245349
HP:0033127	Abnormality of the musculoskeletal system	54916	TMEM260	OMIM:617478
HP:0033127	Abnormality of the musculoskeletal system	6927	HNF1A	ORPHA:324575
HP:0033127	Abnormality of the musculoskeletal system	51807	TUBA8	ORPHA:250972
HP:0033127	Abnormality of the musculoskeletal system	7707	ZNF148	OMIM:617260
HP:0033127	Abnormality of the musculoskeletal system	5934	RBL2	OMIM:619690
HP:0033127	Abnormality of the musculoskeletal system	3172	HNF4A	ORPHA:263455
HP:0033127	Abnormality of the musculoskeletal system	7284	TUFM	OMIM:610678
HP:0033127	Abnormality of the musculoskeletal system	1315	COPB1	OMIM:619255
HP:0033127	Abnormality of the musculoskeletal system	2806	GOT2	OMIM:618721
HP:0033127	Abnormality of the musculoskeletal system	29928	TIMM22	OMIM:618851
HP:0033127	Abnormality of the musculoskeletal system	26191	PTPN22	ORPHA:397
HP:0033127	Abnormality of the musculoskeletal system	8974	P4HA2	ORPHA:397
HP:0033127	Abnormality of the musculoskeletal system	6584	SLC22A5	ORPHA:158
HP:0033127	Abnormality of the musculoskeletal system	6584	SLC22A5	OMIM:212140
HP:0033127	Abnormality of the musculoskeletal system	25915	NDUFAF3	ORPHA:2609
HP:0033127	Abnormality of the musculoskeletal system	51103	NDUFAF1	ORPHA:2609
HP:0033127	Abnormality of the musculoskeletal system	91942	NDUFAF2	ORPHA:2609
HP:0033127	Abnormality of the musculoskeletal system	51300	TIMMDC1	ORPHA:2609
HP:0033127	Abnormality of the musculoskeletal system	4716	NDUFB10	ORPHA:2609
HP:0033127	Abnormality of the musculoskeletal system	4723	NDUFV1	ORPHA:2609
HP:0033127	Abnormality of the musculoskeletal system	55572	FOXRED1	ORPHA:2609
HP:0033127	Abnormality of the musculoskeletal system	284184	NDUFAF8	ORPHA:2609
HP:0033127	Abnormality of the musculoskeletal system	55863	TMEM126B	ORPHA:2609
HP:0033127	Abnormality of the musculoskeletal system	55863	TMEM126B	OMIM:618250
HP:0033127	Abnormality of the musculoskeletal system	4535	MT-ND1	ORPHA:2609
HP:0033127	Abnormality of the musculoskeletal system	4535	MT-ND1	ORPHA:255210
HP:0033127	Abnormality of the musculoskeletal system	4535	MT-ND1	ORPHA:550
HP:0033127	Abnormality of the musculoskeletal system	4537	MT-ND3	ORPHA:2609
HP:0033127	Abnormality of the musculoskeletal system	4537	MT-ND3	ORPHA:255210
HP:0033127	Abnormality of the musculoskeletal system	4729	NDUFV2	ORPHA:2609
HP:0033127	Abnormality of the musculoskeletal system	4694	NDUFA1	ORPHA:2609
HP:0033127	Abnormality of the musculoskeletal system	4720	NDUFS2	ORPHA:2609
HP:0033127	Abnormality of the musculoskeletal system	4724	NDUFS4	ORPHA:2609
HP:0033127	Abnormality of the musculoskeletal system	4724	NDUFS4	OMIM:252010
HP:0033127	Abnormality of the musculoskeletal system	4726	NDUFS6	ORPHA:2609
HP:0033127	Abnormality of the musculoskeletal system	4728	NDUFS8	ORPHA:2609
HP:0033127	Abnormality of the musculoskeletal system	4722	NDUFS3	ORPHA:2609
HP:0033127	Abnormality of the musculoskeletal system	79133	NDUFAF5	ORPHA:2609
HP:0033127	Abnormality of the musculoskeletal system	126328	NDUFA11	ORPHA:2609
HP:0033127	Abnormality of the musculoskeletal system	4709	NDUFB3	ORPHA:2609
HP:0033127	Abnormality of the musculoskeletal system	80224	NUBPL	ORPHA:2609
HP:0033127	Abnormality of the musculoskeletal system	29078	NDUFAF4	ORPHA:2609
HP:0033127	Abnormality of the musculoskeletal system	374291	NDUFS7	ORPHA:2609
HP:0033127	Abnormality of the musculoskeletal system	4700	NDUFA6	ORPHA:2609
HP:0033127	Abnormality of the musculoskeletal system	4536	MT-ND2	ORPHA:2609
HP:0033127	Abnormality of the musculoskeletal system	4536	MT-ND2	ORPHA:255210
HP:0033127	Abnormality of the musculoskeletal system	4719	NDUFS1	ORPHA:2609
HP:0033127	Abnormality of the musculoskeletal system	4715	NDUFB9	ORPHA:2609
HP:0033127	Abnormality of the musculoskeletal system	23019	CNOT1	OMIM:618500
HP:0033127	Abnormality of the musculoskeletal system	1145	CHRNE	OMIM:616324
HP:0033127	Abnormality of the musculoskeletal system	1145	CHRNE	ORPHA:98913
HP:0033127	Abnormality of the musculoskeletal system	57679	ALS2	ORPHA:247604
HP:0033127	Abnormality of the musculoskeletal system	57679	ALS2	OMIM:205100
HP:0033127	Abnormality of the musculoskeletal system	57679	ALS2	ORPHA:300605
HP:0033127	Abnormality of the musculoskeletal system	57679	ALS2	OMIM:607225
HP:0033127	Abnormality of the musculoskeletal system	51099	ABHD5	OMIM:275630
HP:0033127	Abnormality of the musculoskeletal system	3190	HNRNPK	ORPHA:453504
HP:0033127	Abnormality of the musculoskeletal system	3190	HNRNPK	ORPHA:352665
HP:0033127	Abnormality of the musculoskeletal system	5631	PRPS1	ORPHA:99014
HP:0033127	Abnormality of the musculoskeletal system	5631	PRPS1	ORPHA:1187
HP:0033127	Abnormality of the musculoskeletal system	5354	PLP1	ORPHA:99015
HP:0033127	Abnormality of the musculoskeletal system	4538	MT-ND4	ORPHA:255210
HP:0033127	Abnormality of the musculoskeletal system	4538	MT-ND4	ORPHA:550
HP:0033127	Abnormality of the musculoskeletal system	4567	MT-TL1	ORPHA:255210
HP:0033127	Abnormality of the musculoskeletal system	4567	MT-TL1	OMIM:545000
HP:0033127	Abnormality of the musculoskeletal system	4567	MT-TL1	ORPHA:480
HP:0033127	Abnormality of the musculoskeletal system	4567	MT-TL1	ORPHA:550
HP:0033127	Abnormality of the musculoskeletal system	4578	MT-TW	ORPHA:255210
HP:0033127	Abnormality of the musculoskeletal system	4578	MT-TW	ORPHA:550
HP:0033127	Abnormality of the musculoskeletal system	4577	MT-TV	ORPHA:255210
HP:0033127	Abnormality of the musculoskeletal system	4508	MT-ATP6	ORPHA:255210
HP:0033127	Abnormality of the musculoskeletal system	4508	MT-ATP6	ORPHA:254913
HP:0033127	Abnormality of the musculoskeletal system	4540	MT-ND5	ORPHA:255210
HP:0033127	Abnormality of the musculoskeletal system	4540	MT-ND5	ORPHA:550
HP:0033127	Abnormality of the musculoskeletal system	4541	MT-ND6	ORPHA:255210
HP:0033127	Abnormality of the musculoskeletal system	4541	MT-ND6	ORPHA:550
HP:0033127	Abnormality of the musculoskeletal system	4566	MT-TK	ORPHA:255210
HP:0033127	Abnormality of the musculoskeletal system	4566	MT-TK	OMIM:545000
HP:0033127	Abnormality of the musculoskeletal system	4566	MT-TK	ORPHA:1349
HP:0033127	Abnormality of the musculoskeletal system	10528	NOP56	OMIM:614153
HP:0033127	Abnormality of the musculoskeletal system	100996717	NOTCH2NLC	OMIM:603472
HP:0033127	Abnormality of the musculoskeletal system	23400	ATP13A2	ORPHA:314632
HP:0033127	Abnormality of the musculoskeletal system	410	ARSA	ORPHA:309271
HP:0033127	Abnormality of the musculoskeletal system	410	ARSA	ORPHA:309263
HP:0033127	Abnormality of the musculoskeletal system	410	ARSA	ORPHA:309256
HP:0033127	Abnormality of the musculoskeletal system	23321	TRIM2	OMIM:615490
HP:0033127	Abnormality of the musculoskeletal system	55154	MSTO1	OMIM:617675
HP:0033127	Abnormality of the musculoskeletal system	29940	DSE	ORPHA:2953
HP:0033127	Abnormality of the musculoskeletal system	1292	COL6A2	OMIM:620727
HP:0033127	Abnormality of the musculoskeletal system	1292	COL6A2	ORPHA:610
HP:0033127	Abnormality of the musculoskeletal system	1292	COL6A2	ORPHA:75840
HP:0033127	Abnormality of the musculoskeletal system	9581	PREPL	OMIM:616224
HP:0033127	Abnormality of the musculoskeletal system	79184	BRCC3	ORPHA:280679
HP:0033127	Abnormality of the musculoskeletal system	84133	ZNRF3	ORPHA:1501
HP:0033127	Abnormality of the musculoskeletal system	1130	LYST	ORPHA:167
HP:0033127	Abnormality of the musculoskeletal system	1130	LYST	OMIM:214500
HP:0033127	Abnormality of the musculoskeletal system	4524	MTHFR	OMIM:236250
HP:0033127	Abnormality of the musculoskeletal system	1303	COL12A1	OMIM:616471
HP:0033127	Abnormality of the musculoskeletal system	1303	COL12A1	ORPHA:610
HP:0033127	Abnormality of the musculoskeletal system	1303	COL12A1	ORPHA:75840
HP:0033127	Abnormality of the musculoskeletal system	4565	MT-TI	OMIM:545000
HP:0033127	Abnormality of the musculoskeletal system	4571	MT-TP	OMIM:545000
HP:0033127	Abnormality of the musculoskeletal system	4558	MT-TF	OMIM:545000
HP:0033127	Abnormality of the musculoskeletal system	4558	MT-TF	ORPHA:550
HP:0033127	Abnormality of the musculoskeletal system	7386	UQCRFS1	OMIM:618775
HP:0033127	Abnormality of the musculoskeletal system	88	ACTN2	OMIM:618654
HP:0033127	Abnormality of the musculoskeletal system	5442	POLRMT	OMIM:619743
HP:0033127	Abnormality of the musculoskeletal system	9997	SCO2	OMIM:608908
HP:0033127	Abnormality of the musculoskeletal system	9997	SCO2	OMIM:604377
HP:0033127	Abnormality of the musculoskeletal system	790955	UQCC3	OMIM:616111
HP:0033127	Abnormality of the musculoskeletal system	844	CASQ1	OMIM:616231
HP:0033127	Abnormality of the musculoskeletal system	246243	RNASEH1	OMIM:616479
HP:0033127	Abnormality of the musculoskeletal system	388962	BOLA3	OMIM:614299
HP:0033127	Abnormality of the musculoskeletal system	4771	NF2	ORPHA:93921
HP:0033127	Abnormality of the musculoskeletal system	51004	COQ6	ORPHA:93921
HP:0033127	Abnormality of the musculoskeletal system	8216	LZTR1	ORPHA:93921
HP:0033127	Abnormality of the musculoskeletal system	8216	LZTR1	ORPHA:648
HP:0033127	Abnormality of the musculoskeletal system	54840	APTX	OMIM:208920
HP:0033127	Abnormality of the musculoskeletal system	79731	NARS2	OMIM:616239
HP:0033127	Abnormality of the musculoskeletal system	79731	NARS2	ORPHA:79134
HP:0033127	Abnormality of the musculoskeletal system	788	SLC25A20	ORPHA:159
HP:0033127	Abnormality of the musculoskeletal system	788	SLC25A20	OMIM:212138
HP:0033127	Abnormality of the musculoskeletal system	4359	MPZ	ORPHA:101082
HP:0033127	Abnormality of the musculoskeletal system	4359	MPZ	OMIM:618184
HP:0033127	Abnormality of the musculoskeletal system	55621	TRMT1	OMIM:618302
HP:0033127	Abnormality of the musculoskeletal system	779	CACNA1S	OMIM:170400
HP:0033127	Abnormality of the musculoskeletal system	779	CACNA1S	OMIM:188580
HP:0033127	Abnormality of the musculoskeletal system	6329	SCN4A	OMIM:170400
HP:0033127	Abnormality of the musculoskeletal system	6329	SCN4A	OMIM:168300
HP:0033127	Abnormality of the musculoskeletal system	6329	SCN4A	OMIM:608390
HP:0033127	Abnormality of the musculoskeletal system	6329	SCN4A	ORPHA:99735
HP:0033127	Abnormality of the musculoskeletal system	6329	SCN4A	ORPHA:98913
HP:0033127	Abnormality of the musculoskeletal system	54902	TTC19	OMIM:615157
HP:0033127	Abnormality of the musculoskeletal system	84665	MYPN	OMIM:617336
HP:0033127	Abnormality of the musculoskeletal system	92609	TIMM50	OMIM:617698
HP:0033127	Abnormality of the musculoskeletal system	92609	TIMM50	ORPHA:505216
HP:0033127	Abnormality of the musculoskeletal system	4191	MDH2	OMIM:617339
HP:0033127	Abnormality of the musculoskeletal system	1180	CLCN1	OMIM:255700
HP:0033127	Abnormality of the musculoskeletal system	1180	CLCN1	OMIM:160800
HP:0033127	Abnormality of the musculoskeletal system	83636	C19orf12	OMIM:615043
HP:0033127	Abnormality of the musculoskeletal system	50485	SMARCAL1	ORPHA:1830
HP:0033127	Abnormality of the musculoskeletal system	56947	MFF	ORPHA:485421
HP:0033127	Abnormality of the musculoskeletal system	56947	MFF	OMIM:617086
HP:0033127	Abnormality of the musculoskeletal system	400916	CHCHD10	OMIM:615048
HP:0033127	Abnormality of the musculoskeletal system	56652	TWNK	OMIM:271245
HP:0033127	Abnormality of the musculoskeletal system	56652	TWNK	OMIM:607459
HP:0033127	Abnormality of the musculoskeletal system	487	ATP2A1	OMIM:601003
HP:0033127	Abnormality of the musculoskeletal system	5213	PFKM	ORPHA:371
HP:0033127	Abnormality of the musculoskeletal system	5213	PFKM	OMIM:232800
HP:0033127	Abnormality of the musculoskeletal system	339855	KY	OMIM:617114
HP:0033127	Abnormality of the musculoskeletal system	654	BMP6	ORPHA:465508
HP:0033127	Abnormality of the musculoskeletal system	3077	HFE	ORPHA:465508
HP:0033127	Abnormality of the musculoskeletal system	5837	PYGM	ORPHA:368
HP:0033127	Abnormality of the musculoskeletal system	5837	PYGM	OMIM:232600
HP:0033127	Abnormality of the musculoskeletal system	27247	NFU1	OMIM:605711
HP:0033127	Abnormality of the musculoskeletal system	10533	ATG7	OMIM:619422
HP:0033127	Abnormality of the musculoskeletal system	4509	MT-ATP8	ORPHA:480
HP:0033127	Abnormality of the musculoskeletal system	4509	MT-ATP8	ORPHA:254913
HP:0033127	Abnormality of the musculoskeletal system	50484	RRM2B	ORPHA:480
HP:0033127	Abnormality of the musculoskeletal system	54344	DPM3	ORPHA:263494
HP:0033127	Abnormality of the musculoskeletal system	54344	DPM3	OMIM:612937
HP:0033127	Abnormality of the musculoskeletal system	51117	COQ4	OMIM:616276
HP:0033127	Abnormality of the musculoskeletal system	5081	PAX7	OMIM:618578
HP:0033127	Abnormality of the musculoskeletal system	835	CASP2	OMIM:620653
HP:0033127	Abnormality of the musculoskeletal system	3762	KCNJ5	ORPHA:251274
HP:0033127	Abnormality of the musculoskeletal system	3762	KCNJ5	ORPHA:37553
HP:0033127	Abnormality of the musculoskeletal system	4001	LMNB1	ORPHA:99027
HP:0033127	Abnormality of the musculoskeletal system	435	ASL	ORPHA:23
HP:0033127	Abnormality of the musculoskeletal system	64132	XYLT2	OMIM:605822
HP:0033127	Abnormality of the musculoskeletal system	4572	MT-TQ	ORPHA:550
HP:0033127	Abnormality of the musculoskeletal system	4512	MT-CO1	ORPHA:550
HP:0033127	Abnormality of the musculoskeletal system	4512	MT-CO1	ORPHA:99845
HP:0033127	Abnormality of the musculoskeletal system	4513	MT-CO2	ORPHA:550
HP:0033127	Abnormality of the musculoskeletal system	4514	MT-CO3	ORPHA:550
HP:0033127	Abnormality of the musculoskeletal system	4514	MT-CO3	ORPHA:99845
HP:0033127	Abnormality of the musculoskeletal system	4574	MT-TS1	ORPHA:550
HP:0033127	Abnormality of the musculoskeletal system	4575	MT-TS2	ORPHA:550
HP:0033127	Abnormality of the musculoskeletal system	4564	MT-TH	ORPHA:550
HP:0033127	Abnormality of the musculoskeletal system	5351	PLOD1	OMIM:225400
HP:0033127	Abnormality of the musculoskeletal system	5351	PLOD1	ORPHA:1900
HP:0033127	Abnormality of the musculoskeletal system	8573	CASK	OMIM:300749
HP:0033127	Abnormality of the musculoskeletal system	79912	PYROXD1	OMIM:617258
HP:0033127	Abnormality of the musculoskeletal system	1756	DMD	OMIM:310200
HP:0033127	Abnormality of the musculoskeletal system	1756	DMD	ORPHA:98895
HP:0033127	Abnormality of the musculoskeletal system	1756	DMD	OMIM:300376
HP:0033127	Abnormality of the musculoskeletal system	2671	GFER	ORPHA:330054
HP:0033127	Abnormality of the musculoskeletal system	10102	TSFM	OMIM:610505
HP:0033127	Abnormality of the musculoskeletal system	1120	CHKB	OMIM:602541
HP:0033127	Abnormality of the musculoskeletal system	221496	LEMD2	OMIM:619322
HP:0033127	Abnormality of the musculoskeletal system	60482	SLC5A7	OMIM:617143
HP:0033127	Abnormality of the musculoskeletal system	478	ATP1A3	OMIM:601338
HP:0033127	Abnormality of the musculoskeletal system	478	ATP1A3	ORPHA:1171
HP:0033127	Abnormality of the musculoskeletal system	729920	CRPPA	OMIM:616052
HP:0033127	Abnormality of the musculoskeletal system	729920	CRPPA	ORPHA:899
HP:0033127	Abnormality of the musculoskeletal system	1760	DMPK	OMIM:160900
HP:0033127	Abnormality of the musculoskeletal system	84892	POMGNT2	ORPHA:899
HP:0033127	Abnormality of the musculoskeletal system	148789	B3GALNT2	ORPHA:899
HP:0033127	Abnormality of the musculoskeletal system	1282	COL4A1	ORPHA:899
HP:0033127	Abnormality of the musculoskeletal system	10329	RXYLT1	ORPHA:899
HP:0033127	Abnormality of the musculoskeletal system	1605	DAG1	ORPHA:899
HP:0033127	Abnormality of the musculoskeletal system	11041	B4GAT1	ORPHA:899
HP:0033127	Abnormality of the musculoskeletal system	84197	POMK	ORPHA:899
HP:0033127	Abnormality of the musculoskeletal system	2218	FKTN	ORPHA:899
HP:0033127	Abnormality of the musculoskeletal system	2218	FKTN	OMIM:253800
HP:0033127	Abnormality of the musculoskeletal system	55624	POMGNT1	ORPHA:899
HP:0033127	Abnormality of the musculoskeletal system	55624	POMGNT1	OMIM:253280
HP:0033127	Abnormality of the musculoskeletal system	1298	COL9A2	ORPHA:166002
HP:0033127	Abnormality of the musculoskeletal system	1299	COL9A3	ORPHA:166002
HP:0033127	Abnormality of the musculoskeletal system	6904	TBCD	ORPHA:496641
HP:0033127	Abnormality of the musculoskeletal system	6904	TBCD	OMIM:617193
HP:0033127	Abnormality of the musculoskeletal system	7084	TK2	ORPHA:254875
HP:0033127	Abnormality of the musculoskeletal system	56915	EXOSC5	OMIM:619576
HP:0033127	Abnormality of the musculoskeletal system	513	ATP5F1D	OMIM:618120
HP:0033127	Abnormality of the musculoskeletal system	513	ATP5F1D	ORPHA:254913
HP:0033127	Abnormality of the musculoskeletal system	4625	MYH7	OMIM:255160
HP:0033127	Abnormality of the musculoskeletal system	4625	MYH7	OMIM:608358
HP:0033127	Abnormality of the musculoskeletal system	55750	AGK	OMIM:212350
HP:0033127	Abnormality of the musculoskeletal system	773	CACNA1A	ORPHA:569
HP:0033127	Abnormality of the musculoskeletal system	773	CACNA1A	OMIM:108500
HP:0033127	Abnormality of the musculoskeletal system	112476	PRRT2	ORPHA:569
HP:0033127	Abnormality of the musculoskeletal system	6323	SCN1A	ORPHA:569
HP:0033127	Abnormality of the musculoskeletal system	477	ATP1A2	ORPHA:569
HP:0033127	Abnormality of the musculoskeletal system	2632	GBE1	ORPHA:206583
HP:0033127	Abnormality of the musculoskeletal system	2632	GBE1	OMIM:232500
HP:0033127	Abnormality of the musculoskeletal system	212	ALAS2	ORPHA:75563
HP:0033127	Abnormality of the musculoskeletal system	80324	PUS1	OMIM:600462
HP:0033127	Abnormality of the musculoskeletal system	2583	B4GALNT1	ORPHA:101006
HP:0033127	Abnormality of the musculoskeletal system	112812	FDX2	OMIM:251900
HP:0033127	Abnormality of the musculoskeletal system	191	AHCY	ORPHA:88618
HP:0033127	Abnormality of the musculoskeletal system	4556	MT-TE	ORPHA:254864
HP:0033127	Abnormality of the musculoskeletal system	55687	TRMU	ORPHA:254864
HP:0033127	Abnormality of the musculoskeletal system	29967	LRP12	OMIM:620452
HP:0033127	Abnormality of the musculoskeletal system	29967	LRP12	OMIM:164310
HP:0033127	Abnormality of the musculoskeletal system	79736	TEFM	OMIM:620451
HP:0033127	Abnormality of the musculoskeletal system	37	ACADVL	OMIM:201475
HP:0033127	Abnormality of the musculoskeletal system	6424	SFRP4	OMIM:265900
HP:0033127	Abnormality of the musculoskeletal system	3032	HADHB	ORPHA:746
HP:0033127	Abnormality of the musculoskeletal system	3030	HADHA	ORPHA:746
HP:0033127	Abnormality of the musculoskeletal system	246329	STAC3	ORPHA:168572
HP:0033127	Abnormality of the musculoskeletal system	246329	STAC3	OMIM:255995
HP:0033127	Abnormality of the musculoskeletal system	7504	XK	OMIM:300842
HP:0033127	Abnormality of the musculoskeletal system	23287	AGTPBP1	OMIM:618276
HP:0033127	Abnormality of the musculoskeletal system	23287	AGTPBP1	ORPHA:2254
HP:0033127	Abnormality of the musculoskeletal system	226	ALDOA	OMIM:611881
HP:0033127	Abnormality of the musculoskeletal system	226	ALDOA	ORPHA:57
HP:0033127	Abnormality of the musculoskeletal system	54800	KLHL24	OMIM:620236
HP:0033127	Abnormality of the musculoskeletal system	1291	COL6A1	ORPHA:610
HP:0033127	Abnormality of the musculoskeletal system	1291	COL6A1	ORPHA:75840
HP:0033127	Abnormality of the musculoskeletal system	63899	NSUN3	OMIM:619012
HP:0033127	Abnormality of the musculoskeletal system	131118	DNAJC19	ORPHA:66634
HP:0033127	Abnormality of the musculoskeletal system	131118	DNAJC19	OMIM:610198
HP:0033127	Abnormality of the musculoskeletal system	60386	SLC25A19	OMIM:613710
HP:0033127	Abnormality of the musculoskeletal system	5236	PGM1	OMIM:614921
HP:0033127	Abnormality of the musculoskeletal system	1073	CFL2	OMIM:610687
HP:0033127	Abnormality of the musculoskeletal system	22800	RRAS2	ORPHA:648
HP:0033127	Abnormality of the musculoskeletal system	6016	RIT1	ORPHA:648
HP:0033127	Abnormality of the musculoskeletal system	6237	RRAS	ORPHA:648
HP:0033127	Abnormality of the musculoskeletal system	5894	RAF1	ORPHA:648
HP:0033127	Abnormality of the musculoskeletal system	22808	MRAS	ORPHA:648
HP:0033127	Abnormality of the musculoskeletal system	200734	SPRED2	ORPHA:648
HP:0033127	Abnormality of the musculoskeletal system	6654	SOS1	ORPHA:648
HP:0033127	Abnormality of the musculoskeletal system	6655	SOS2	ORPHA:648
HP:0033127	Abnormality of the musculoskeletal system	5922	RASA2	ORPHA:648
HP:0033127	Abnormality of the musculoskeletal system	3593	IL12B	ORPHA:3287
HP:0033127	Abnormality of the musculoskeletal system	6945	MLX	ORPHA:3287
HP:0033127	Abnormality of the musculoskeletal system	2581	GALC	ORPHA:206436
HP:0033127	Abnormality of the musculoskeletal system	5216	PFN1	OMIM:614808
HP:0033127	Abnormality of the musculoskeletal system	10079	ATP9A	OMIM:620242
HP:0033127	Abnormality of the musculoskeletal system	1181	CLCN2	ORPHA:404
HP:0033127	Abnormality of the musculoskeletal system	124093	CCDC78	OMIM:614807
HP:0033127	Abnormality of the musculoskeletal system	1584	CYP11B1	ORPHA:403
HP:0033127	Abnormality of the musculoskeletal system	1585	CYP11B2	ORPHA:403
HP:0033127	Abnormality of the musculoskeletal system	5376	PMP22	ORPHA:640
HP:0033127	Abnormality of the musculoskeletal system	5376	PMP22	OMIM:162500
HP:0033127	Abnormality of the musculoskeletal system	54936	ADPRS	OMIM:618170
HP:0033127	Abnormality of the musculoskeletal system	899	CCNF	OMIM:619141
HP:0033127	Abnormality of the musculoskeletal system	5257	PHKB	OMIM:261750
HP:0033127	Abnormality of the musculoskeletal system	65250	CPLANE1	ORPHA:65684
HP:0033127	Abnormality of the musculoskeletal system	57562	CEP126	ORPHA:65684
HP:0033127	Abnormality of the musculoskeletal system	5621	PRNP	ORPHA:282166
HP:0033127	Abnormality of the musculoskeletal system	51102	MECR	ORPHA:508093
HP:0033127	Abnormality of the musculoskeletal system	5393	EXOSC9	OMIM:618065
HP:0033127	Abnormality of the musculoskeletal system	5393	EXOSC9	ORPHA:2254
HP:0033127	Abnormality of the musculoskeletal system	51816	ADA2	ORPHA:820
HP:0033127	Abnormality of the musculoskeletal system	57176	VARS2	OMIM:615917
HP:0033127	Abnormality of the musculoskeletal system	2038	EPB42	ORPHA:822
HP:0033127	Abnormality of the musculoskeletal system	6521	SLC4A1	ORPHA:822
HP:0033127	Abnormality of the musculoskeletal system	6521	SLC4A1	OMIM:179800
HP:0033127	Abnormality of the musculoskeletal system	6710	SPTB	ORPHA:822
HP:0033127	Abnormality of the musculoskeletal system	6708	SPTA1	ORPHA:822
HP:0033127	Abnormality of the musculoskeletal system	286	ANK1	ORPHA:822
HP:0033127	Abnormality of the musculoskeletal system	6840	SVIL	OMIM:619040
HP:0033127	Abnormality of the musculoskeletal system	2617	GARS1	OMIM:619042
HP:0033127	Abnormality of the musculoskeletal system	6576	SLC25A1	OMIM:618197
HP:0033127	Abnormality of the musculoskeletal system	4649	MYO9A	OMIM:618198
HP:0033127	Abnormality of the musculoskeletal system	1352	COX10	OMIM:619046
HP:0033127	Abnormality of the musculoskeletal system	9197	SLC33A1	OMIM:612539
HP:0033127	Abnormality of the musculoskeletal system	2992	GYG1	OMIM:613507
HP:0033127	Abnormality of the musculoskeletal system	87178	PNPT1	ORPHA:319514
HP:0033127	Abnormality of the musculoskeletal system	7125	TNNC2	OMIM:620161
HP:0033127	Abnormality of the musculoskeletal system	1340	COX6B1	OMIM:619051
HP:0033127	Abnormality of the musculoskeletal system	514	ATP5F1E	ORPHA:254913
HP:0033127	Abnormality of the musculoskeletal system	498	ATP5F1A	ORPHA:254913
HP:0033127	Abnormality of the musculoskeletal system	84833	ATP5MK	ORPHA:254913
HP:0033127	Abnormality of the musculoskeletal system	91647	ATPAF2	ORPHA:254913
HP:0033127	Abnormality of the musculoskeletal system	1272	CNTN1	OMIM:612540
HP:0033127	Abnormality of the musculoskeletal system	55858	TMEM165	OMIM:614727
HP:0033127	Abnormality of the musculoskeletal system	114034	TOE1	OMIM:614969
HP:0033127	Abnormality of the musculoskeletal system	9570	GOSR2	OMIM:620166
HP:0033127	Abnormality of the musculoskeletal system	2332	FMR1	ORPHA:93256
HP:0033127	Abnormality of the musculoskeletal system	7276	TTR	OMIM:105210
HP:0033127	Abnormality of the musculoskeletal system	1339	COX6A2	OMIM:619062
HP:0033127	Abnormality of the musculoskeletal system	7274	TTPA	ORPHA:96
HP:0033127	Abnormality of the musculoskeletal system	6687	SPG7	OMIM:607259
HP:0033127	Abnormality of the musculoskeletal system	26278	SACS	ORPHA:98
HP:0033127	Abnormality of the musculoskeletal system	23203	PMPCA	ORPHA:1170
HP:0033127	Abnormality of the musculoskeletal system	10282	BET1	OMIM:254100
HP:0033127	Abnormality of the musculoskeletal system	54805	CNNM2	OMIM:613882
HP:0033127	Abnormality of the musculoskeletal system	10352	WARS2	ORPHA:572798
HP:0033127	Abnormality of the musculoskeletal system	10352	WARS2	OMIM:617710
HP:0033127	Abnormality of the musculoskeletal system	55157	DARS2	OMIM:611105
HP:0033127	Abnormality of the musculoskeletal system	5230	PGK1	ORPHA:713
HP:0033127	Abnormality of the musculoskeletal system	5230	PGK1	OMIM:300653
HP:0033127	Abnormality of the musculoskeletal system	113278	SLC52A3	OMIM:211530
HP:0033127	Abnormality of the musculoskeletal system	2395	FXN	ORPHA:95
HP:0033127	Abnormality of the musculoskeletal system	3475	IFRD1	ORPHA:98771
HP:0033127	Abnormality of the musculoskeletal system	10801	SEPTIN9	OMIM:162100
HP:0033127	Abnormality of the musculoskeletal system	7809	BSND	ORPHA:89938
HP:0033127	Abnormality of the musculoskeletal system	1187	CLCNKA	ORPHA:89938
HP:0033127	Abnormality of the musculoskeletal system	149371	EXOC8	OMIM:619076
HP:0033127	Abnormality of the musculoskeletal system	5255	PHKA1	OMIM:300559
HP:0033127	Abnormality of the musculoskeletal system	51010	EXOSC3	ORPHA:2254
HP:0033127	Abnormality of the musculoskeletal system	51010	EXOSC3	OMIM:614678
HP:0033127	Abnormality of the musculoskeletal system	7443	VRK1	ORPHA:2254
HP:0033127	Abnormality of the musculoskeletal system	7443	VRK1	OMIM:607596
HP:0033127	Abnormality of the musculoskeletal system	91137	SLC25A46	ORPHA:2254
HP:0033127	Abnormality of the musculoskeletal system	91137	SLC25A46	OMIM:616505
HP:0033127	Abnormality of the musculoskeletal system	10290	SPEG	OMIM:615959
HP:0033127	Abnormality of the musculoskeletal system	90624	LYRM7	OMIM:615838
HP:0033127	Abnormality of the musculoskeletal system	11128	POLR3A	OMIM:264090
HP:0033127	Abnormality of the musculoskeletal system	9990	SLC12A6	OMIM:620068
HP:0033127	Abnormality of the musculoskeletal system	6609	SMPD1	OMIM:257200
HP:0033127	Abnormality of the musculoskeletal system	283209	PGM2L1	OMIM:620191
HP:0033127	Abnormality of the musculoskeletal system	23175	LPIN1	OMIM:268200
HP:0033127	Abnormality of the musculoskeletal system	23175	LPIN1	ORPHA:99845
HP:0033127	Abnormality of the musculoskeletal system	728294	D2HGDH	OMIM:600721
HP:0033127	Abnormality of the musculoskeletal system	2521	FUS	ORPHA:300605
HP:0033127	Abnormality of the musculoskeletal system	80208	SPG11	ORPHA:300605
HP:0033127	Abnormality of the musculoskeletal system	10280	SIGMAR1	ORPHA:300605
HP:0033127	Abnormality of the musculoskeletal system	2548	GAA	ORPHA:308552
HP:0033127	Abnormality of the musculoskeletal system	2548	GAA	OMIM:232300
HP:0033127	Abnormality of the musculoskeletal system	5428	POLG	OMIM:613662
HP:0033127	Abnormality of the musculoskeletal system	5428	POLG	OMIM:607459
HP:0033127	Abnormality of the musculoskeletal system	28976	ACAD9	OMIM:611126
HP:0033127	Abnormality of the musculoskeletal system	84033	OBSCN	ORPHA:99845
HP:0033127	Abnormality of the musculoskeletal system	3662	IRF4	ORPHA:3452
HP:0033127	Abnormality of the musculoskeletal system	7234	TRU-TCA1-1	OMIM:620198
HP:0033127	Abnormality of the musculoskeletal system	1374	CPT1A	OMIM:255120
HP:0033127	Abnormality of the musculoskeletal system	10133	OPTN	OMIM:613435
HP:0033127	Abnormality of the musculoskeletal system	91574	MTRFR	OMIM:613559
HP:0033127	Abnormality of the musculoskeletal system	710	SERPING1	OMIM:106100
HP:0033127	Abnormality of the musculoskeletal system	23479	ISCU	OMIM:255125
HP:0033127	Abnormality of the musculoskeletal system	6314	ATXN7	ORPHA:94147
HP:0033127	Abnormality of the musculoskeletal system	3991	LIPE	OMIM:615980
HP:0033127	Abnormality of the musculoskeletal system	23503	ZFYVE26	ORPHA:100996
HP:0033127	Abnormality of the musculoskeletal system	51067	YARS2	OMIM:613561
HP:0033127	Abnormality of the musculoskeletal system	3897	L1CAM	ORPHA:1497
HP:0033127	Abnormality of the musculoskeletal system	284119	CAVIN1	OMIM:613327
HP:0033127	Abnormality of the musculoskeletal system	6310	ATXN1	OMIM:164400
HP:0033127	Abnormality of the musculoskeletal system	270	AMPD1	OMIM:615511
HP:0033127	Abnormality of the musculoskeletal system	7167	TPI1	OMIM:615512
HP:0033127	Abnormality of the musculoskeletal system	132	ADK	OMIM:614300
HP:0033127	Abnormality of the musculoskeletal system	6948	TCN2	OMIM:275350
HP:0033127	Abnormality of the musculoskeletal system	6696	SPP1	ORPHA:93552
HP:0033127	Abnormality of the musculoskeletal system	6303	SAT1	ORPHA:93552
HP:0033127	Abnormality of the musculoskeletal system	3654	IRAK1	ORPHA:93552
HP:0033127	Abnormality of the musculoskeletal system	3074	HEXB	OMIM:268800
HP:0033127	Abnormality of the musculoskeletal system	10229	COQ7	OMIM:616733
HP:0033127	Abnormality of the musculoskeletal system	6606	SMN1	OMIM:253550
HP:0033127	Abnormality of the musculoskeletal system	57505	AARS2	OMIM:615889
HP:0033127	Abnormality of the musculoskeletal system	7200	TRH	OMIM:275120
HP:0033127	Abnormality of the musculoskeletal system	6301	SARS1	OMIM:617709
HP:0033127	Abnormality of the musculoskeletal system	54822	TRPM7	OMIM:105500
HP:0033127	Abnormality of the musculoskeletal system	3767	KCNJ11	ORPHA:79134
HP:0033127	Abnormality of the musculoskeletal system	3767	KCNJ11	ORPHA:276580
HP:0033127	Abnormality of the musculoskeletal system	6833	ABCC8	ORPHA:79134
HP:0033127	Abnormality of the musculoskeletal system	6833	ABCC8	OMIM:618857
HP:0033127	Abnormality of the musculoskeletal system	50940	PDE11A	ORPHA:1359
HP:0033127	Abnormality of the musculoskeletal system	84679	SLC9A7	OMIM:301024
HP:0033127	Abnormality of the musculoskeletal system	64135	IFIH1	OMIM:182250
HP:0033127	Abnormality of the musculoskeletal system	55906	ZC4H2	OMIM:314580
HP:0033127	Abnormality of the musculoskeletal system	2821	GPI	OMIM:613470
HP:0033127	Abnormality of the musculoskeletal system	79572	ATP13A3	OMIM:265400
HP:0033127	Abnormality of the musculoskeletal system	7080	NKX2-1	ORPHA:95713
HP:0033127	Abnormality of the musculoskeletal system	7849	PAX8	ORPHA:95713
HP:0033127	Abnormality of the musculoskeletal system	7849	PAX8	ORPHA:95712
HP:0033127	Abnormality of the musculoskeletal system	1482	NKX2-5	ORPHA:95713
HP:0033127	Abnormality of the musculoskeletal system	1482	NKX2-5	ORPHA:95712
HP:0033127	Abnormality of the musculoskeletal system	7253	TSHR	ORPHA:95713
HP:0033127	Abnormality of the musculoskeletal system	5172	SLC26A4	ORPHA:95713
HP:0033127	Abnormality of the musculoskeletal system	10616	RBCK1	OMIM:615895
HP:0033127	Abnormality of the musculoskeletal system	10342	TFG	OMIM:615658
HP:0033127	Abnormality of the musculoskeletal system	27315	PGAP2	OMIM:614207
HP:0033127	Abnormality of the musculoskeletal system	51008	ASCC1	OMIM:616867
HP:0033127	Abnormality of the musculoskeletal system	291	SLC25A4	OMIM:615418
HP:0033127	Abnormality of the musculoskeletal system	4594	MMUT	OMIM:251000
HP:0033127	Abnormality of the musculoskeletal system	20	ABCA2	OMIM:618808
HP:0033127	Abnormality of the musculoskeletal system	9056	SLC7A7	OMIM:222700
HP:0033127	Abnormality of the musculoskeletal system	11280	SCN11A	OMIM:615548
HP:0033127	Abnormality of the musculoskeletal system	128989	TANGO2	OMIM:616878
HP:0033127	Abnormality of the musculoskeletal system	57817	HAMP	ORPHA:79230
HP:0033127	Abnormality of the musculoskeletal system	148738	HJV	ORPHA:79230
HP:0033127	Abnormality of the musculoskeletal system	6197	RPS6KA3	ORPHA:192
HP:0033127	Abnormality of the musculoskeletal system	29957	SLC25A24	OMIM:612289
HP:0033127	Abnormality of the musculoskeletal system	203228	C9orf72	OMIM:105550
HP:0033127	Abnormality of the musculoskeletal system	10128	LRPPRC	ORPHA:70472
HP:0033127	Abnormality of the musculoskeletal system	6697	SPR	ORPHA:70594
HP:0033127	Abnormality of the musculoskeletal system	6182	MRPL12	OMIM:618951
HP:0033127	Abnormality of the musculoskeletal system	122553	TRAPPC6B	OMIM:617862
HP:0033127	Abnormality of the musculoskeletal system	4780	NFE2L2	OMIM:617744
HP:0033127	Abnormality of the musculoskeletal system	57570	TRMT5	OMIM:616539
HP:0033127	Abnormality of the musculoskeletal system	8292	COLQ	ORPHA:98915
HP:0033127	Abnormality of the musculoskeletal system	3913	LAMB2	ORPHA:98915
HP:0033127	Abnormality of the musculoskeletal system	54676	GTPBP2	OMIM:617988
HP:0033127	Abnormality of the musculoskeletal system	2645	GCK	ORPHA:79299
HP:0033127	Abnormality of the musculoskeletal system	1305	COL13A1	ORPHA:98913
HP:0033127	Abnormality of the musculoskeletal system	1140	CHRNB1	ORPHA:98913
HP:0033127	Abnormality of the musculoskeletal system	1140	CHRNB1	OMIM:616314
HP:0033127	Abnormality of the musculoskeletal system	4593	MUSK	ORPHA:98913
HP:0033127	Abnormality of the musculoskeletal system	5913	RAPSN	ORPHA:98913
HP:0033127	Abnormality of the musculoskeletal system	375790	AGRN	ORPHA:98913
HP:0033127	Abnormality of the musculoskeletal system	221264	AK9	ORPHA:98913
HP:0033127	Abnormality of the musculoskeletal system	285489	DOK7	ORPHA:98913
HP:0033127	Abnormality of the musculoskeletal system	617	BCS1L	OMIM:124000
HP:0033127	Abnormality of the musculoskeletal system	84628	NTNG2	OMIM:618718
HP:0033127	Abnormality of the musculoskeletal system	95	ACY1	OMIM:609924
HP:0033127	Abnormality of the musculoskeletal system	210	ALAD	ORPHA:100924
HP:0033127	Abnormality of the musculoskeletal system	3920	LAMP2	OMIM:300257
HP:0033127	Abnormality of the musculoskeletal system	178	AGL	OMIM:232400
HP:0033127	Abnormality of the musculoskeletal system	23435	TARDBP	OMIM:612069
HP:0033127	Abnormality of the musculoskeletal system	23533	PIK3R5	OMIM:615217
HP:0033127	Abnormality of the musculoskeletal system	8086	AAAS	OMIM:231550
HP:0033127	Abnormality of the musculoskeletal system	6389	SDHA	OMIM:252011
HP:0033127	Abnormality of the musculoskeletal system	115286	SLC25A26	OMIM:616794
HP:0033127	Abnormality of the musculoskeletal system	1235	CCR6	ORPHA:220393
HP:0033127	Abnormality of the musculoskeletal system	1490	CCN2	ORPHA:220393
HP:0033127	Abnormality of the musculoskeletal system	3663	IRF5	ORPHA:220393
HP:0033127	Abnormality of the musculoskeletal system	857	CAV1	ORPHA:220393
HP:0033127	Abnormality of the musculoskeletal system	6647	SOD1	OMIM:105400
HP:0033127	Abnormality of the musculoskeletal system	5630	PRPH	OMIM:105400
HP:0033127	Abnormality of the musculoskeletal system	1639	DCTN1	OMIM:105400
HP:0033127	Abnormality of the musculoskeletal system	4744	NEFH	OMIM:105400
HP:0033127	Abnormality of the musculoskeletal system	2110	ETFDH	OMIM:231680
HP:0033127	Abnormality of the musculoskeletal system	2108	ETFA	OMIM:231680
HP:0033127	Abnormality of the musculoskeletal system	2109	ETFB	OMIM:231680
HP:0033127	Abnormality of the musculoskeletal system	4668	NAGA	ORPHA:79279
HP:0033127	Abnormality of the musculoskeletal system	3759	KCNJ2	ORPHA:37553
HP:0033127	Abnormality of the musculoskeletal system	3119	HLA-DQB1	OMIM:126200
HP:0033127	Abnormality of the musculoskeletal system	6472	SHMT2	OMIM:619121
HP:0033127	Abnormality of the musculoskeletal system	57502	NLGN4X	OMIM:300495
HP:0033127	Abnormality of the musculoskeletal system	284361	EMC10	OMIM:619264
HP:0033127	Abnormality of the musculoskeletal system	10436	EMG1	OMIM:211180
HP:0033127	Abnormality of the musculoskeletal system	2690	GHR	OMIM:262500
HP:0033127	Abnormality of the musculoskeletal system	5277	PIGA	OMIM:300868
HP:0033127	Abnormality of the musculoskeletal system	114548	NLRP3	ORPHA:1451
HP:0033127	Abnormality of the musculoskeletal system	1302	COL11A2	ORPHA:1427
HP:0033127	Abnormality of the musculoskeletal system	26123	TCTN3	ORPHA:2753
HP:0033127	Abnormality of the musculoskeletal system	144811	LACC1	ORPHA:85414
HP:0033127	Abnormality of the musculoskeletal system	4282	MIF	ORPHA:85414
HP:0033127	Abnormality of the musculoskeletal system	3569	IL6	ORPHA:85414
HP:0033127	Abnormality of the musculoskeletal system	987	LRBA	OMIM:614700
HP:0033127	Abnormality of the musculoskeletal system	23509	POFUT1	ORPHA:79145
HP:0033127	Abnormality of the musculoskeletal system	55851	PSENEN	ORPHA:79145
HP:0033127	Abnormality of the musculoskeletal system	1776	DNASE1L3	ORPHA:36412
HP:0033127	Abnormality of the musculoskeletal system	5896	RAG1	OMIM:601457
HP:0033127	Abnormality of the musculoskeletal system	5897	RAG2	OMIM:601457
HP:0033127	Abnormality of the musculoskeletal system	7018	TF	ORPHA:1195
HP:0033127	Abnormality of the musculoskeletal system	81858	SHARPIN	OMIM:620795
HP:0033127	Abnormality of the musculoskeletal system	2215	FCGR3B	ORPHA:536
HP:0033127	Abnormality of the musculoskeletal system	3684	ITGAM	ORPHA:536
HP:0033127	Abnormality of the musculoskeletal system	221895	JAZF1	ORPHA:536
HP:0033127	Abnormality of the musculoskeletal system	7292	TNFSF4	ORPHA:536
HP:0033127	Abnormality of the musculoskeletal system	640	BLK	ORPHA:536
HP:0033127	Abnormality of the musculoskeletal system	55024	BANK1	ORPHA:536
HP:0033127	Abnormality of the musculoskeletal system	3500	IGHG1	ORPHA:536
HP:0033127	Abnormality of the musculoskeletal system	1380	CR2	ORPHA:536
HP:0033127	Abnormality of the musculoskeletal system	5133	PDCD1	ORPHA:536
HP:0033127	Abnormality of the musculoskeletal system	2113	ETS1	ORPHA:536
HP:0033127	Abnormality of the musculoskeletal system	2213	FCGR2B	ORPHA:536
HP:0033127	Abnormality of the musculoskeletal system	2213	FCGR2B	OMIM:152700
HP:0033127	Abnormality of the musculoskeletal system	10318	TNIP1	ORPHA:536
HP:0033127	Abnormality of the musculoskeletal system	7332	UBE2L3	ORPHA:536
HP:0033127	Abnormality of the musculoskeletal system	79932	KIAA0319L	ORPHA:536
HP:0033127	Abnormality of the musculoskeletal system	721	C4B	ORPHA:536
HP:0033127	Abnormality of the musculoskeletal system	1773	DNASE1	ORPHA:536
HP:0033127	Abnormality of the musculoskeletal system	1773	DNASE1	OMIM:152700
HP:0033127	Abnormality of the musculoskeletal system	51284	TLR7	ORPHA:536
HP:0033127	Abnormality of the musculoskeletal system	54899	PXK	ORPHA:536
HP:0033127	Abnormality of the musculoskeletal system	7128	TNFAIP3	ORPHA:536
HP:0033127	Abnormality of the musculoskeletal system	10216	PRG4	OMIM:208250
HP:0033127	Abnormality of the musculoskeletal system	3107	HLA-C	OMIM:177900
HP:0033127	Abnormality of the musculoskeletal system	713	C1QB	OMIM:620321
HP:0033127	Abnormality of the musculoskeletal system	64127	NOD2	OMIM:186580
HP:0033127	Abnormality of the musculoskeletal system	64127	NOD2	OMIM:617321
HP:0033127	Abnormality of the musculoskeletal system	64127	NOD2	ORPHA:90340
HP:0033127	Abnormality of the musculoskeletal system	10804	GJB6	ORPHA:477
HP:0033127	Abnormality of the musculoskeletal system	3236	HOXD10	OMIM:192950
HP:0033127	Abnormality of the musculoskeletal system	5580	PRKCD	OMIM:615559
HP:0033127	Abnormality of the musculoskeletal system	3115	HLA-DPB1	ORPHA:900
HP:0033127	Abnormality of the musculoskeletal system	5657	PRTN3	ORPHA:900
HP:0033127	Abnormality of the musculoskeletal system	3113	HLA-DPA1	ORPHA:900
HP:0033127	Abnormality of the musculoskeletal system	6928	HNF1B	ORPHA:93111
HP:0033127	Abnormality of the musculoskeletal system	7036	TFR2	OMIM:604250
HP:0033127	Abnormality of the musculoskeletal system	331	XIAP	ORPHA:538934
HP:0033127	Abnormality of the musculoskeletal system	130340	AP1S3	ORPHA:247353
HP:0033127	Abnormality of the musculoskeletal system	26525	IL36RN	ORPHA:247353
HP:0033127	Abnormality of the musculoskeletal system	1314	COPA	OMIM:616414
HP:0033127	Abnormality of the musculoskeletal system	3514	IGKC	ORPHA:183675
HP:0033127	Abnormality of the musculoskeletal system	3501	IGHG2	ORPHA:183675
HP:0033127	Abnormality of the musculoskeletal system	2000	ELF4	OMIM:301074
HP:0033127	Abnormality of the musculoskeletal system	2212	FCGR2A	OMIM:152700
HP:0033127	Abnormality of the musculoskeletal system	165918	RNF168	ORPHA:420741
HP:0033127	Abnormality of the musculoskeletal system	55823	VPS11	OMIM:616683
HP:0033127	Abnormality of the musculoskeletal system	775	CACNA1C	OMIM:620029
HP:0033127	Abnormality of the musculoskeletal system	64324	NSD1	ORPHA:821
HP:0033127	Abnormality of the musculoskeletal system	10297	APC2	ORPHA:821
HP:0033127	Abnormality of the musculoskeletal system	4312	MMP1	ORPHA:79408
HP:0033127	Abnormality of the musculoskeletal system	3560	IL2RB	ORPHA:85408
HP:0033127	Abnormality of the musculoskeletal system	79722	ANKRD55	ORPHA:85408
HP:0033127	Abnormality of the musculoskeletal system	919	CD247	ORPHA:85408
HP:0033127	Abnormality of the musculoskeletal system	5771	PTPN2	ORPHA:85408
HP:0033127	Abnormality of the musculoskeletal system	3020	H3-3A	OMIM:619720
HP:0033127	Abnormality of the musculoskeletal system	6536	SLC6A9	OMIM:617301
HP:0033127	Abnormality of the musculoskeletal system	1785	DNM2	OMIM:615368
HP:0033127	Abnormality of the musculoskeletal system	1785	DNM2	OMIM:160150
HP:0033127	Abnormality of the musculoskeletal system	25914	RTTN	OMIM:614833
HP:0033127	Abnormality of the musculoskeletal system	128486	FITM2	OMIM:618635
HP:0033127	Abnormality of the musculoskeletal system	23250	ATP11A	OMIM:619851
HP:0033127	Abnormality of the musculoskeletal system	274	BIN1	OMIM:255200
HP:0033127	Abnormality of the musculoskeletal system	9469	CHST3	OMIM:143095
HP:0033127	Abnormality of the musculoskeletal system	9469	CHST3	ORPHA:263463
HP:0033127	Abnormality of the musculoskeletal system	1889	ECE1	OMIM:613870
HP:0033127	Abnormality of the musculoskeletal system	9326	ZNHIT3	ORPHA:2836
HP:0033127	Abnormality of the musculoskeletal system	8560	DEGS1	OMIM:618404
HP:0033127	Abnormality of the musculoskeletal system	8398	PLA2G6	ORPHA:35069
HP:0033127	Abnormality of the musculoskeletal system	3848	KRT1	ORPHA:79503
HP:0033127	Abnormality of the musculoskeletal system	9839	ZEB2	ORPHA:261552
HP:0033127	Abnormality of the musculoskeletal system	9839	ZEB2	ORPHA:261537
HP:0033127	Abnormality of the musculoskeletal system	8726	EED	OMIM:617561
HP:0033127	Abnormality of the musculoskeletal system	22872	SEC31A	OMIM:618651
HP:0033127	Abnormality of the musculoskeletal system	833	CARS1	OMIM:618891
HP:0033127	Abnormality of the musculoskeletal system	84314	TMEM107	OMIM:617562
HP:0033127	Abnormality of the musculoskeletal system	2783	GNB2	OMIM:619503
HP:0033127	Abnormality of the musculoskeletal system	4632	MYL1	OMIM:618414
HP:0033127	Abnormality of the musculoskeletal system	2752	GLUL	OMIM:610015
HP:0033127	Abnormality of the musculoskeletal system	3782	KCNN3	OMIM:618658
HP:0033127	Abnormality of the musculoskeletal system	10717	AP4B1	OMIM:614066
HP:0033127	Abnormality of the musculoskeletal system	11154	AP4S1	OMIM:614067
HP:0033127	Abnormality of the musculoskeletal system	51633	OTUD6B	OMIM:617452
HP:0033127	Abnormality of the musculoskeletal system	9289	ADGRG1	ORPHA:98889
HP:0033127	Abnormality of the musculoskeletal system	27286	SRPX2	ORPHA:98889
HP:0033127	Abnormality of the musculoskeletal system	64837	KLC2	OMIM:609541
HP:0033127	Abnormality of the musculoskeletal system	64419	MTMR14	OMIM:160150
HP:0033127	Abnormality of the musculoskeletal system	57152	SLURP1	ORPHA:87503
HP:0033127	Abnormality of the musculoskeletal system	27086	FOXP1	ORPHA:391372
HP:0033127	Abnormality of the musculoskeletal system	6506	SLC1A2	OMIM:617105
HP:0033127	Abnormality of the musculoskeletal system	51085	MLXIPL	OMIM:194050
HP:0033127	Abnormality of the musculoskeletal system	4677	NARS1	OMIM:619091
HP:0033127	Abnormality of the musculoskeletal system	8242	KDM5C	OMIM:300534
HP:0033127	Abnormality of the musculoskeletal system	22906	TRAK1	OMIM:618201
HP:0033127	Abnormality of the musculoskeletal system	81031	SLC2A10	OMIM:208050
HP:0033127	Abnormality of the musculoskeletal system	51227	PIGP	OMIM:617599
HP:0033127	Abnormality of the musculoskeletal system	55275	VPS53	OMIM:615851
HP:0033127	Abnormality of the musculoskeletal system	1387	CREBBP	OMIM:618332
HP:0033127	Abnormality of the musculoskeletal system	1387	CREBBP	OMIM:180849
HP:0033127	Abnormality of the musculoskeletal system	54101	RIPK4	OMIM:263650
HP:0033127	Abnormality of the musculoskeletal system	667	DST	OMIM:614653
HP:0033127	Abnormality of the musculoskeletal system	3329	HSPD1	OMIM:612233
HP:0033127	Abnormality of the musculoskeletal system	55770	EXOC2	OMIM:619306
HP:0033127	Abnormality of the musculoskeletal system	7051	TGM1	OMIM:242300
HP:0033127	Abnormality of the musculoskeletal system	84706	GPT2	OMIM:616281
HP:0033127	Abnormality of the musculoskeletal system	10785	WDR4	OMIM:618346
HP:0033127	Abnormality of the musculoskeletal system	579	NKX3-2	OMIM:613330
HP:0033127	Abnormality of the musculoskeletal system	9526	MPDU1	OMIM:609180
HP:0033127	Abnormality of the musculoskeletal system	256297	PTF1A	OMIM:609069
HP:0033127	Abnormality of the musculoskeletal system	79868	ALG13	OMIM:300884
HP:0033127	Abnormality of the musculoskeletal system	8882	ZPR1	OMIM:619321
HP:0033127	Abnormality of the musculoskeletal system	5010	CLDN11	OMIM:619328
HP:0033127	Abnormality of the musculoskeletal system	23729	SHPK	ORPHA:440713
HP:0033127	Abnormality of the musculoskeletal system	3039	HBA1	ORPHA:98791
HP:0033127	Abnormality of the musculoskeletal system	3040	HBA2	ORPHA:98791
HP:0033127	Abnormality of the musculoskeletal system	10940	POP1	OMIM:617396
HP:0033127	Abnormality of the musculoskeletal system	4998	ORC1	OMIM:224690
HP:0033127	Abnormality of the musculoskeletal system	11253	MAN1B1	OMIM:614202
HP:0033127	Abnormality of the musculoskeletal system	64856	VWA1	OMIM:619216
HP:0033127	Abnormality of the musculoskeletal system	7965	AIMP2	OMIM:618006
HP:0033127	Abnormality of the musculoskeletal system	5160	PDHA1	ORPHA:79243
HP:0033127	Abnormality of the musculoskeletal system	2068	ERCC2	OMIM:601675
HP:0033127	Abnormality of the musculoskeletal system	11342	RNF13	OMIM:618379
HP:0033127	Abnormality of the musculoskeletal system	11342	RNF13	ORPHA:544503
HP:0033127	Abnormality of the musculoskeletal system	6874	TAF4	OMIM:620450
HP:0033127	Abnormality of the musculoskeletal system	7874	USP7	ORPHA:500055
HP:0033127	Abnormality of the musculoskeletal system	2033	EP300	OMIM:180849
HP:0033127	Abnormality of the musculoskeletal system	25782	RAB3GAP2	OMIM:614225
HP:0033127	Abnormality of the musculoskeletal system	9968	MED12	OMIM:309520
HP:0033127	Abnormality of the musculoskeletal system	4534	MTM1	OMIM:310400
HP:0033127	Abnormality of the musculoskeletal system	2571	GAD1	OMIM:619124
HP:0033127	Abnormality of the musculoskeletal system	10651	MTX2	OMIM:619127
HP:0033127	Abnormality of the musculoskeletal system	162514	TRPV3	OMIM:614594
HP:0033127	Abnormality of the musculoskeletal system	202018	TAPT1	OMIM:616897
HP:0033127	Abnormality of the musculoskeletal system	342035	GLDN	OMIM:617194
HP:0033127	Abnormality of the musculoskeletal system	2176	FANCC	OMIM:227645
HP:0033127	Abnormality of the musculoskeletal system	5538	PPT1	OMIM:256730
HP:0033127	Abnormality of the musculoskeletal system	8815	BANF1	OMIM:614008
HP:0033127	Abnormality of the musculoskeletal system	84081	NSRP1	OMIM:620001
HP:0033127	Abnormality of the musculoskeletal system	23529	CLCF1	ORPHA:1545
HP:0033127	Abnormality of the musculoskeletal system	9244	CRLF1	ORPHA:1545
HP:0033127	Abnormality of the musculoskeletal system	2801	GOLGA2	OMIM:620240
HP:0033127	Abnormality of the musculoskeletal system	129285	PPP1R21	OMIM:619383
HP:0033127	Abnormality of the musculoskeletal system	221692	PHACTR1	OMIM:618298
HP:0033127	Abnormality of the musculoskeletal system	2639	GCDH	ORPHA:25
HP:0033127	Abnormality of the musculoskeletal system	26224	FBXL3	OMIM:606220
HP:0033127	Abnormality of the musculoskeletal system	23483	TGDS	OMIM:616145
HP:0033127	Abnormality of the musculoskeletal system	8883	NAE1	OMIM:620210
HP:0033127	Abnormality of the musculoskeletal system	242	ALOX12B	ORPHA:281122
HP:0033127	Abnormality of the musculoskeletal system	59344	ALOXE3	ORPHA:281122
HP:0033127	Abnormality of the musculoskeletal system	64841	GNPNAT1	OMIM:619598
HP:0033127	Abnormality of the musculoskeletal system	26154	ABCA12	ORPHA:457
HP:0033127	Abnormality of the musculoskeletal system	6938	TCF12	OMIM:619718
HP:0033127	Abnormality of the musculoskeletal system	3021	H3-3B	OMIM:619721
HP:0033127	Abnormality of the musculoskeletal system	137492	VPS37A	ORPHA:319199
HP:0033127	Abnormality of the musculoskeletal system	137492	VPS37A	OMIM:614898
HP:0033127	Abnormality of the musculoskeletal system	53335	BCL11A	OMIM:617101
HP:0033127	Abnormality of the musculoskeletal system	1742	DLG4	OMIM:618793
HP:0033127	Abnormality of the musculoskeletal system	4883	NPR3	OMIM:619543
HP:0033127	Abnormality of the musculoskeletal system	5910	RAP1GDS1	OMIM:620655
HP:0033127	Abnormality of the musculoskeletal system	444	ASPH	OMIM:601552
HP:0033127	Abnormality of the musculoskeletal system	92002	CCNQ	OMIM:300707
HP:0033127	Abnormality of the musculoskeletal system	5076	PAX2	OMIM:120330
HP:0033127	Abnormality of the musculoskeletal system	5076	PAX2	ORPHA:1475
HP:0033127	Abnormality of the musculoskeletal system	11011	TLK2	OMIM:618050
HP:0033127	Abnormality of the musculoskeletal system	347734	SLC35B2	OMIM:620269
HP:0033127	Abnormality of the musculoskeletal system	5744	PTHLH	ORPHA:93387
HP:0033127	Abnormality of the musculoskeletal system	9739	SETD1A	OMIM:619056
HP:0033127	Abnormality of the musculoskeletal system	10716	TBR1	OMIM:606053
HP:0033127	Abnormality of the musculoskeletal system	57459	GATAD2B	ORPHA:363686
HP:0033127	Abnormality of the musculoskeletal system	55084	SOBP	OMIM:613671
HP:0033127	Abnormality of the musculoskeletal system	26115	TANC2	OMIM:618906
HP:0033127	Abnormality of the musculoskeletal system	91179	SCARF2	OMIM:600920
HP:0033127	Abnormality of the musculoskeletal system	80781	COL18A1	ORPHA:1571
HP:0033127	Abnormality of the musculoskeletal system	80781	COL18A1	OMIM:267750
HP:0033127	Abnormality of the musculoskeletal system	8936	WASF1	OMIM:618707
HP:0033127	Abnormality of the musculoskeletal system	9203	ZMYM3	OMIM:301111
HP:0033127	Abnormality of the musculoskeletal system	11141	IL1RAPL1	OMIM:300143
HP:0033127	Abnormality of the musculoskeletal system	25871	NEPRO	OMIM:618853
HP:0033127	Abnormality of the musculoskeletal system	7372	UMPS	ORPHA:30
HP:0033127	Abnormality of the musculoskeletal system	2243	FGA	ORPHA:98880
HP:0033127	Abnormality of the musculoskeletal system	2244	FGB	ORPHA:98880
HP:0033127	Abnormality of the musculoskeletal system	2266	FGG	ORPHA:98880
HP:0033127	Abnormality of the musculoskeletal system	6583	SLC22A4	OMIM:180300
HP:0033127	Abnormality of the musculoskeletal system	4261	CIITA	OMIM:180300
HP:0033127	Abnormality of the musculoskeletal system	51744	CD244	OMIM:180300
HP:0033127	Abnormality of the musculoskeletal system	4795	NFKBIL1	OMIM:180300
HP:0033127	Abnormality of the musculoskeletal system	54507	ADAMTSL4	ORPHA:1885
HP:0033127	Abnormality of the musculoskeletal system	2254	FGF9	ORPHA:3237
HP:0033127	Abnormality of the musculoskeletal system	3889	KRT83	OMIM:617756
HP:0033127	Abnormality of the musculoskeletal system	341640	FREM2	ORPHA:2052
HP:0033127	Abnormality of the musculoskeletal system	80144	FRAS1	ORPHA:2052
HP:0033127	Abnormality of the musculoskeletal system	23426	GRIP1	ORPHA:2052
HP:0033127	Abnormality of the musculoskeletal system	23384	SPECC1L	ORPHA:1519
HP:0033127	Abnormality of the musculoskeletal system	672	BRCA1	ORPHA:84
HP:0033127	Abnormality of the musculoskeletal system	10459	MAD2L2	ORPHA:84
HP:0033127	Abnormality of the musculoskeletal system	7516	XRCC2	ORPHA:84
HP:0033127	Abnormality of the musculoskeletal system	55120	FANCL	ORPHA:84
HP:0033127	Abnormality of the musculoskeletal system	2177	FANCD2	ORPHA:84
HP:0033127	Abnormality of the musculoskeletal system	2175	FANCA	ORPHA:84
HP:0033127	Abnormality of the musculoskeletal system	2178	FANCE	ORPHA:84
HP:0033127	Abnormality of the musculoskeletal system	2188	FANCF	ORPHA:84
HP:0033127	Abnormality of the musculoskeletal system	2189	FANCG	ORPHA:84
HP:0033127	Abnormality of the musculoskeletal system	5889	RAD51C	ORPHA:84
HP:0033127	Abnormality of the musculoskeletal system	83990	BRIP1	ORPHA:84
HP:0033127	Abnormality of the musculoskeletal system	57697	FANCM	ORPHA:84
HP:0033127	Abnormality of the musculoskeletal system	79728	PALB2	ORPHA:84
HP:0033127	Abnormality of the musculoskeletal system	84464	SLX4	ORPHA:84
HP:0033127	Abnormality of the musculoskeletal system	55215	FANCI	ORPHA:84
HP:0033127	Abnormality of the musculoskeletal system	29128	UHRF1	ORPHA:2268
HP:0033127	Abnormality of the musculoskeletal system	3070	HELLS	ORPHA:2268
HP:0033127	Abnormality of the musculoskeletal system	83879	CDCA7	ORPHA:2268
HP:0033127	Abnormality of the musculoskeletal system	9841	ZBTB24	ORPHA:2268
HP:0033127	Abnormality of the musculoskeletal system	1009	CDH11	ORPHA:1299
HP:0033127	Abnormality of the musculoskeletal system	25802	LMOD1	ORPHA:2241
HP:0033127	Abnormality of the musculoskeletal system	57479	PRR12	OMIM:619539
HP:0033127	Abnormality of the musculoskeletal system	6299	SALL1	OMIM:107480
HP:0033127	Abnormality of the musculoskeletal system	28981	IFT81	OMIM:617895
HP:0033127	Abnormality of the musculoskeletal system	158326	FREM1	ORPHA:3366
HP:0033127	Abnormality of the musculoskeletal system	158326	FREM1	OMIM:248450
HP:0033127	Abnormality of the musculoskeletal system	4659	PPP1R12A	OMIM:618820
HP:0033127	Abnormality of the musculoskeletal system	9772	TMEM94	OMIM:618316
HP:0033127	Abnormality of the musculoskeletal system	3090	HIC1	ORPHA:531
HP:0033127	Abnormality of the musculoskeletal system	10584	COLEC10	OMIM:248340
HP:0033127	Abnormality of the musculoskeletal system	10584	COLEC10	ORPHA:293843
HP:0033127	Abnormality of the musculoskeletal system	5648	MASP1	OMIM:257920
HP:0033127	Abnormality of the musculoskeletal system	5648	MASP1	ORPHA:293843
HP:0033127	Abnormality of the musculoskeletal system	7021	TFAP2B	ORPHA:46627
HP:0033127	Abnormality of the musculoskeletal system	84148	KAT8	OMIM:618974
HP:0033127	Abnormality of the musculoskeletal system	6049	RNF6	ORPHA:99977
HP:0033127	Abnormality of the musculoskeletal system	9940	DLEC1	ORPHA:99977
HP:0033127	Abnormality of the musculoskeletal system	22948	CCT5	OMIM:256840
HP:0033127	Abnormality of the musculoskeletal system	22948	CCT5	ORPHA:139578
HP:0033127	Abnormality of the musculoskeletal system	7879	RAB7A	OMIM:600882
HP:0033127	Abnormality of the musculoskeletal system	51726	DNAJB11	OMIM:618061
HP:0033127	Abnormality of the musculoskeletal system	7369	UMOD	OMIM:162000
HP:0033127	Abnormality of the musculoskeletal system	29927	SEC61A1	OMIM:617056
HP:0033127	Abnormality of the musculoskeletal system	4582	MUC1	OMIM:174000
HP:0033127	Abnormality of the musculoskeletal system	2035	EPB41	ORPHA:288
HP:0033127	Abnormality of the musculoskeletal system	2995	GYPC	ORPHA:288
HP:0033127	Abnormality of the musculoskeletal system	10913	EDAR	OMIM:224900
HP:0033127	Abnormality of the musculoskeletal system	84942	WDR73	OMIM:251300
HP:0033127	Abnormality of the musculoskeletal system	84942	WDR73	ORPHA:2065
HP:0033127	Abnormality of the musculoskeletal system	6925	TCF4	ORPHA:2896
HP:0033127	Abnormality of the musculoskeletal system	715	C1R	OMIM:130080
HP:0033127	Abnormality of the musculoskeletal system	374879	ZNF699	OMIM:619488
HP:0033127	Abnormality of the musculoskeletal system	169792	GLIS3	OMIM:610199
HP:0033127	Abnormality of the musculoskeletal system	23261	CAMTA1	OMIM:614756
HP:0033127	Abnormality of the musculoskeletal system	84520	GON7	OMIM:619603
HP:0033127	Abnormality of the musculoskeletal system	84520	GON7	ORPHA:2065
HP:0033127	Abnormality of the musculoskeletal system	79693	YRDC	ORPHA:2065
HP:0033127	Abnormality of the musculoskeletal system	51002	TPRKB	ORPHA:2065
HP:0033127	Abnormality of the musculoskeletal system	55644	OSGEP	ORPHA:2065
HP:0033127	Abnormality of the musculoskeletal system	55644	OSGEP	OMIM:617729
HP:0033127	Abnormality of the musculoskeletal system	55746	NUP133	ORPHA:2065
HP:0033127	Abnormality of the musculoskeletal system	112858	TP53RK	ORPHA:2065
HP:0033127	Abnormality of the musculoskeletal system	8270	LAGE3	ORPHA:2065
HP:0033127	Abnormality of the musculoskeletal system	51341	ZBTB7A	OMIM:619769
HP:0033127	Abnormality of the musculoskeletal system	200403	VWA3B	OMIM:616948
HP:0033127	Abnormality of the musculoskeletal system	7384	UQCRC1	OMIM:619279
HP:0033127	Abnormality of the musculoskeletal system	4016	LOXL1	OMIM:177650
HP:0033127	Abnormality of the musculoskeletal system	10501	SEMA6B	OMIM:618876
HP:0033127	Abnormality of the musculoskeletal system	11152	WDR45	ORPHA:329284
HP:0033127	Abnormality of the musculoskeletal system	11152	WDR45	OMIM:300894
HP:0033127	Abnormality of the musculoskeletal system	55037	PTCD3	OMIM:619057
HP:0033127	Abnormality of the musculoskeletal system	8622	PDE8B	OMIM:609161
HP:0033127	Abnormality of the musculoskeletal system	8622	PDE8B	ORPHA:228169
HP:0033127	Abnormality of the musculoskeletal system	116442	RAB39B	OMIM:311510
HP:0033127	Abnormality of the musculoskeletal system	116442	RAB39B	ORPHA:2379
HP:0033127	Abnormality of the musculoskeletal system	339453	TMEM240	ORPHA:98773
HP:0033127	Abnormality of the musculoskeletal system	5524	PTPA	OMIM:620482
HP:0033127	Abnormality of the musculoskeletal system	51142	CHCHD2	OMIM:616710
HP:0033127	Abnormality of the musculoskeletal system	126	ADH1C	OMIM:168600
HP:0033127	Abnormality of the musculoskeletal system	9627	SNCAIP	OMIM:168600
HP:0033127	Abnormality of the musculoskeletal system	57156	TMEM63C	OMIM:619966
HP:0033127	Abnormality of the musculoskeletal system	113612	CYP2U1	OMIM:615030
HP:0033127	Abnormality of the musculoskeletal system	9636	ISG15	OMIM:616126
HP:0033127	Abnormality of the musculoskeletal system	23404	EXOSC2	OMIM:617763
HP:0033127	Abnormality of the musculoskeletal system	594	BCKDHB	OMIM:620698
HP:0033127	Abnormality of the musculoskeletal system	1629	DBT	OMIM:620699
HP:0033127	Abnormality of the musculoskeletal system	10749	KIF1C	ORPHA:397946
HP:0033127	Abnormality of the musculoskeletal system	10749	KIF1C	OMIM:611302
HP:0033127	Abnormality of the musculoskeletal system	10159	ATP6AP2	ORPHA:93952
HP:0033127	Abnormality of the musculoskeletal system	54834	GDAP2	OMIM:618369
HP:0033127	Abnormality of the musculoskeletal system	55149	MTPAP	ORPHA:254343
HP:0033127	Abnormality of the musculoskeletal system	55703	POLR3B	OMIM:619742
HP:0033127	Abnormality of the musculoskeletal system	1600	DAB1	OMIM:615945
HP:0033127	Abnormality of the musculoskeletal system	81790	RNF170	OMIM:608984
HP:0033127	Abnormality of the musculoskeletal system	10846	PDE10A	ORPHA:494526
HP:0033127	Abnormality of the musculoskeletal system	10846	PDE10A	OMIM:616921
HP:0033127	Abnormality of the musculoskeletal system	6872	TAF1	ORPHA:53351
HP:0033127	Abnormality of the musculoskeletal system	383	ARG1	OMIM:207800
HP:0033127	Abnormality of the musculoskeletal system	2055	CLN8	ORPHA:1947
HP:0033127	Abnormality of the musculoskeletal system	8996	NOL3	OMIM:614937
HP:0033127	Abnormality of the musculoskeletal system	3752	KCND3	ORPHA:98772
HP:0033127	Abnormality of the musculoskeletal system	3752	KCND3	OMIM:607346
HP:0033127	Abnormality of the musculoskeletal system	2775	GNAO1	OMIM:617493
HP:0033127	Abnormality of the musculoskeletal system	2775	GNAO1	ORPHA:1934
HP:0033127	Abnormality of the musculoskeletal system	57128	LYRM4	OMIM:615595
HP:0033127	Abnormality of the musculoskeletal system	64116	SLC39A8	OMIM:616721
HP:0033127	Abnormality of the musculoskeletal system	64116	SLC39A8	ORPHA:468699
HP:0033127	Abnormality of the musculoskeletal system	23394	ADNP	OMIM:615873
HP:0033127	Abnormality of the musculoskeletal system	8818	DPM2	ORPHA:329178
HP:0033127	Abnormality of the musculoskeletal system	781	CACNA2D1	OMIM:620149
HP:0033127	Abnormality of the musculoskeletal system	781	CACNA2D1	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	56623	INPP5E	OMIM:213300
HP:0033127	Abnormality of the musculoskeletal system	6571	SLC18A2	ORPHA:352649
HP:0033127	Abnormality of the musculoskeletal system	6571	SLC18A2	OMIM:618049
HP:0033127	Abnormality of the musculoskeletal system	3073	HEXA	OMIM:272800
HP:0033127	Abnormality of the musculoskeletal system	55610	VPS50	OMIM:619685
HP:0033127	Abnormality of the musculoskeletal system	10978	CLP1	ORPHA:411493
HP:0033127	Abnormality of the musculoskeletal system	10659	CELF2	OMIM:619561
HP:0033127	Abnormality of the musculoskeletal system	10659	CELF2	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	51506	UFC1	OMIM:618076
HP:0033127	Abnormality of the musculoskeletal system	9342	SNAP29	ORPHA:66631
HP:0033127	Abnormality of the musculoskeletal system	9342	SNAP29	OMIM:609528
HP:0033127	Abnormality of the musculoskeletal system	5917	RARS1	ORPHA:438114
HP:0033127	Abnormality of the musculoskeletal system	5917	RARS1	OMIM:616140
HP:0033127	Abnormality of the musculoskeletal system	3097	HIVEP2	OMIM:616977
HP:0033127	Abnormality of the musculoskeletal system	55250	ELP2	OMIM:617270
HP:0033127	Abnormality of the musculoskeletal system	8913	CACNA1G	OMIM:618087
HP:0033127	Abnormality of the musculoskeletal system	4705	NDUFA10	OMIM:618243
HP:0033127	Abnormality of the musculoskeletal system	9512	PMPCB	OMIM:617954
HP:0033127	Abnormality of the musculoskeletal system	816	CAMK2B	OMIM:617799
HP:0033127	Abnormality of the musculoskeletal system	51079	NDUFA13	OMIM:618249
HP:0033127	Abnormality of the musculoskeletal system	819	CAMLG	OMIM:620201
HP:0033127	Abnormality of the musculoskeletal system	8604	SLC25A12	OMIM:612949
HP:0033127	Abnormality of the musculoskeletal system	5805	PTS	ORPHA:13
HP:0033127	Abnormality of the musculoskeletal system	6712	SPTBN2	OMIM:600224
HP:0033127	Abnormality of the musculoskeletal system	2903	GRIN2A	ORPHA:289266
HP:0033127	Abnormality of the musculoskeletal system	3737	KCNA2	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	1759	DNM1	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	1759	DNM1	OMIM:620352
HP:0033127	Abnormality of the musculoskeletal system	8120	AP3B2	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	10991	SLC38A3	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	51343	FZR1	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	3747	KCNC2	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	3747	KCNC2	OMIM:619913
HP:0033127	Abnormality of the musculoskeletal system	1917	EEF1A2	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	2561	GABRB2	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	8831	SYNGAP1	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	2558	GABRA5	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	2906	GRIN2D	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	116150	NUS1	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	1213	CLTC	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	23334	SZT2	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	348980	HCN1	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	25977	NECAP1	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	23241	PACS2	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	6334	SCN8A	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	2555	GABRA2	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	55152	DALRD3	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	26999	CYFIP2	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	4915	NTRK2	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	25973	PARS2	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	23097	CDK19	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	2257	FGF12	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	5530	PPP3CA	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	2566	GABRG2	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	7532	YWHAG	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	79876	UBA5	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	6328	SCN3A	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	774	CACNA1B	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	51412	ACTL6B	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	2290	FOXG1	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	3745	KCNB1	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	22866	CNKSR2	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	79947	DHDDS	ORPHA:442835
HP:0033127	Abnormality of the musculoskeletal system	3028	HSD17B10	ORPHA:391428
HP:0033127	Abnormality of the musculoskeletal system	8943	AP3D1	OMIM:617050
HP:0033127	Abnormality of the musculoskeletal system	253738	EBF3	OMIM:617330
HP:0033127	Abnormality of the musculoskeletal system	5281	PIGF	OMIM:619356
HP:0033127	Abnormality of the musculoskeletal system	116115	ZNF526	OMIM:619877
HP:0033127	Abnormality of the musculoskeletal system	9091	PIGQ	OMIM:618548
HP:0033127	Abnormality of the musculoskeletal system	9091	PIGQ	ORPHA:1934
HP:0033127	Abnormality of the musculoskeletal system	3251	HPRT1	OMIM:300322
HP:0033127	Abnormality of the musculoskeletal system	253959	RALGAPA1	OMIM:618797
HP:0033127	Abnormality of the musculoskeletal system	3708	ITPR1	OMIM:117360
HP:0033127	Abnormality of the musculoskeletal system	3708	ITPR1	OMIM:206700
HP:0033127	Abnormality of the musculoskeletal system	57038	RARS2	OMIM:611523
HP:0033127	Abnormality of the musculoskeletal system	10681	GNB5	ORPHA:542306
HP:0033127	Abnormality of the musculoskeletal system	4841	NONO	ORPHA:466791
HP:0033127	Abnormality of the musculoskeletal system	125988	MICOS13	OMIM:618329
HP:0033127	Abnormality of the musculoskeletal system	2902	GRIN1	OMIM:619814
HP:0033127	Abnormality of the musculoskeletal system	2902	GRIN1	ORPHA:1934
HP:0033127	Abnormality of the musculoskeletal system	9725	TMEM63A	OMIM:618688
HP:0033127	Abnormality of the musculoskeletal system	5048	PAFAH1B1	ORPHA:95232
HP:0033127	Abnormality of the musculoskeletal system	57731	SPTBN4	OMIM:617519
HP:0033127	Abnormality of the musculoskeletal system	124454	EARS2	OMIM:614924
HP:0033127	Abnormality of the musculoskeletal system	1719	DHFR	OMIM:613839
HP:0033127	Abnormality of the musculoskeletal system	64432	MRPS25	OMIM:619025
HP:0033127	Abnormality of the musculoskeletal system	8884	SLC5A6	OMIM:618973
HP:0033127	Abnormality of the musculoskeletal system	133686	NADK2	OMIM:616034
HP:0033127	Abnormality of the musculoskeletal system	3658	IREB2	OMIM:618451
HP:0033127	Abnormality of the musculoskeletal system	8449	DHX16	OMIM:618733
HP:0033127	Abnormality of the musculoskeletal system	7407	VARS1	OMIM:617802
HP:0033127	Abnormality of the musculoskeletal system	27445	PCLO	OMIM:608027
HP:0033127	Abnormality of the musculoskeletal system	140679	SLC32A1	ORPHA:1934
HP:0033127	Abnormality of the musculoskeletal system	81603	TRIM8	ORPHA:1934
HP:0033127	Abnormality of the musculoskeletal system	150094	SIK1	ORPHA:1934
HP:0033127	Abnormality of the musculoskeletal system	23312	DMXL2	ORPHA:1934
HP:0033127	Abnormality of the musculoskeletal system	6324	SCN1B	ORPHA:1934
HP:0033127	Abnormality of the musculoskeletal system	4761	NEUROD2	ORPHA:1934
HP:0033127	Abnormality of the musculoskeletal system	2760	GM2A	OMIM:272750
HP:0033127	Abnormality of the musculoskeletal system	50717	DCAF8	OMIM:610100
HP:0033127	Abnormality of the musculoskeletal system	10743	RAI1	ORPHA:477817
HP:0033127	Abnormality of the musculoskeletal system	56704	JPH1	OMIM:607831
HP:0033127	Abnormality of the musculoskeletal system	101060691	NUTM2B-AS1	OMIM:618637
HP:0033127	Abnormality of the musculoskeletal system	3508	IGHMBP2	OMIM:604320
HP:0033127	Abnormality of the musculoskeletal system	81846	SBF2	OMIM:604563
HP:0033127	Abnormality of the musculoskeletal system	57449	PLEKHG5	OMIM:615376
HP:0033127	Abnormality of the musculoskeletal system	57449	PLEKHG5	OMIM:611067
HP:0033127	Abnormality of the musculoskeletal system	7920	ABHD16A	OMIM:619735
HP:0033127	Abnormality of the musculoskeletal system	65998	ZFTA	ORPHA:251636
HP:0033127	Abnormality of the musculoskeletal system	60481	ELOVL5	OMIM:615957
HP:0033127	Abnormality of the musculoskeletal system	60481	ELOVL5	ORPHA:423296
HP:0033127	Abnormality of the musculoskeletal system	8898	MTMR2	OMIM:601382
HP:0033127	Abnormality of the musculoskeletal system	8565	YARS1	OMIM:608323
HP:0033127	Abnormality of the musculoskeletal system	19	ABCA1	ORPHA:31150
HP:0033127	Abnormality of the musculoskeletal system	5981	RFC1	ORPHA:504476
HP:0033127	Abnormality of the musculoskeletal system	3300	DNAJB2	OMIM:614881
HP:0033127	Abnormality of the musculoskeletal system	26353	HSPB8	OMIM:608673
HP:0033127	Abnormality of the musculoskeletal system	26353	HSPB8	OMIM:158590
HP:0033127	Abnormality of the musculoskeletal system	10397	NDRG1	ORPHA:99950
HP:0033127	Abnormality of the musculoskeletal system	10397	NDRG1	OMIM:601455
HP:0033127	Abnormality of the musculoskeletal system	1959	EGR2	OMIM:145900
HP:0033127	Abnormality of the musculoskeletal system	1959	EGR2	OMIM:607678
HP:0033127	Abnormality of the musculoskeletal system	1959	EGR2	OMIM:605253
HP:0033127	Abnormality of the musculoskeletal system	55187	VPS13D	OMIM:607317
HP:0033127	Abnormality of the musculoskeletal system	90678	LRSAM1	OMIM:614436
HP:0033127	Abnormality of the musculoskeletal system	8888	MCM3AP	OMIM:618124
HP:0033127	Abnormality of the musculoskeletal system	182	JAG1	OMIM:619574
HP:0033127	Abnormality of the musculoskeletal system	3035	HARS1	OMIM:616625
HP:0033127	Abnormality of the musculoskeletal system	2705	GJB1	OMIM:302800
HP:0033127	Abnormality of the musculoskeletal system	64423	INF2	OMIM:614455
HP:0033127	Abnormality of the musculoskeletal system	89874	SLC25A21	OMIM:618811
HP:0033127	Abnormality of the musculoskeletal system	81857	MED25	OMIM:605589
HP:0033127	Abnormality of the musculoskeletal system	65260	COA7	OMIM:618387
HP:0033127	Abnormality of the musculoskeletal system	1778	DYNC1H1	OMIM:614228
HP:0033127	Abnormality of the musculoskeletal system	93587	TRMT10A	ORPHA:391408
HP:0033127	Abnormality of the musculoskeletal system	3710	ITPR3	OMIM:620111
HP:0033127	Abnormality of the musculoskeletal system	9516	LITAF	OMIM:601098
HP:0033127	Abnormality of the musculoskeletal system	7515	XRCC1	OMIM:617633
HP:0033127	Abnormality of the musculoskeletal system	727676	SNORD118	ORPHA:542310
HP:0033127	Abnormality of the musculoskeletal system	6575	SLC20A2	OMIM:213600
HP:0033127	Abnormality of the musculoskeletal system	57462	MYORG	OMIM:618317
HP:0033127	Abnormality of the musculoskeletal system	3094	HINT1	ORPHA:324442
HP:0033127	Abnormality of the musculoskeletal system	7345	UCHL1	OMIM:615491
HP:0033127	Abnormality of the musculoskeletal system	203547	VMA21	OMIM:310440
HP:0033127	Abnormality of the musculoskeletal system	7555	CNBP	ORPHA:606
HP:0033127	Abnormality of the musculoskeletal system	7555	CNBP	OMIM:602668
HP:0033127	Abnormality of the musculoskeletal system	100134444	KCNJ18	ORPHA:79102
HP:0033127	Abnormality of the musculoskeletal system	2556	GABRA3	ORPHA:79102
HP:0033127	Abnormality of the musculoskeletal system	2273	FHL1	ORPHA:98863
HP:0033127	Abnormality of the musculoskeletal system	2010	EMD	ORPHA:98863
HP:0033127	Abnormality of the musculoskeletal system	9217	VAPB	ORPHA:209335
HP:0033127	Abnormality of the musculoskeletal system	10008	KCNE3	ORPHA:681
HP:0033127	Abnormality of the musculoskeletal system	79188	TMEM43	ORPHA:98853
HP:0033127	Abnormality of the musculoskeletal system	23345	SYNE1	ORPHA:98853
HP:0033127	Abnormality of the musculoskeletal system	23224	SYNE2	ORPHA:98853
HP:0033127	Abnormality of the musculoskeletal system	80185	TTI2	ORPHA:391307
HP:0033127	Abnormality of the musculoskeletal system	57498	KIDINS220	OMIM:617296
HP:0033127	Abnormality of the musculoskeletal system	1317	SLC31A1	OMIM:620306
HP:0033127	Abnormality of the musculoskeletal system	80222	TARS2	OMIM:615918
HP:0033127	Abnormality of the musculoskeletal system	7343	UBTF	ORPHA:500180
HP:0033127	Abnormality of the musculoskeletal system	64801	ARV1	OMIM:617020
HP:0033127	Abnormality of the musculoskeletal system	23065	EMC1	ORPHA:480898
HP:0033127	Abnormality of the musculoskeletal system	23065	EMC1	OMIM:616875
HP:0033127	Abnormality of the musculoskeletal system	25839	COG4	ORPHA:263501
HP:0033127	Abnormality of the musculoskeletal system	25839	COG4	OMIM:613489
HP:0033127	Abnormality of the musculoskeletal system	4718	NDUFC2	OMIM:619170
HP:0033127	Abnormality of the musculoskeletal system	400569	MED11	OMIM:620327
HP:0033127	Abnormality of the musculoskeletal system	5095	PCCA	OMIM:606054
HP:0033127	Abnormality of the musculoskeletal system	5096	PCCB	OMIM:606054
HP:0033127	Abnormality of the musculoskeletal system	57599	WDR48	ORPHA:401800
HP:0033127	Abnormality of the musculoskeletal system	170825	GSX2	OMIM:618646
HP:0033127	Abnormality of the musculoskeletal system	1284	COL4A2	OMIM:614483
HP:0033127	Abnormality of the musculoskeletal system	10695	CNPY3	OMIM:617929
HP:0033127	Abnormality of the musculoskeletal system	6309	SC5D	ORPHA:46059
HP:0033127	Abnormality of the musculoskeletal system	8496	PPFIBP1	OMIM:620024
HP:0033127	Abnormality of the musculoskeletal system	1436	CSF1R	OMIM:618476
HP:0033127	Abnormality of the musculoskeletal system	5053	PAH	OMIM:261600
HP:0033127	Abnormality of the musculoskeletal system	5053	PAH	ORPHA:79254
HP:0033127	Abnormality of the musculoskeletal system	56975	FAM20C	OMIM:259775
HP:0033127	Abnormality of the musculoskeletal system	79709	COLGALT1	OMIM:618360
HP:0033127	Abnormality of the musculoskeletal system	8671	SLC4A4	OMIM:604278
HP:0033127	Abnormality of the musculoskeletal system	3394	IRF8	OMIM:226990
HP:0033127	Abnormality of the musculoskeletal system	11274	USP18	OMIM:617397
HP:0033127	Abnormality of the musculoskeletal system	6573	SLC19A1	OMIM:620603
HP:0033127	Abnormality of the musculoskeletal system	6773	STAT2	OMIM:618886
HP:0033127	Abnormality of the musculoskeletal system	9213	XPR1	ORPHA:1980
HP:0033127	Abnormality of the musculoskeletal system	3117	HLA-DQA1	OMIM:212750
HP:0033127	Abnormality of the musculoskeletal system	100506658	OCLN	ORPHA:1229
HP:0033127	Abnormality of the musculoskeletal system	100506658	OCLN	OMIM:251290
HP:0033127	Abnormality of the musculoskeletal system	23258	DENND5A	OMIM:617281
HP:0033127	Abnormality of the musculoskeletal system	8635	RNASET2	OMIM:612951
HP:0033127	Abnormality of the musculoskeletal system	139285	AMER1	ORPHA:2780
HP:0033127	Abnormality of the musculoskeletal system	1075	CTSC	ORPHA:678
HP:0033127	Abnormality of the musculoskeletal system	4953	ODC1	OMIM:619075
HP:0033127	Abnormality of the musculoskeletal system	57169	ZNFX1	OMIM:619644
HP:0033127	Abnormality of the musculoskeletal system	326	AIRE	ORPHA:3453
HP:0033127	Abnormality of the musculoskeletal system	8643	PTCH2	ORPHA:377
HP:0033127	Abnormality of the musculoskeletal system	9365	KL	OMIM:617994
HP:0033127	Abnormality of the musculoskeletal system	351	APP	ORPHA:100006
HP:0033127	Abnormality of the musculoskeletal system	65057	ACD	ORPHA:3322
HP:0033127	Abnormality of the musculoskeletal system	5860	QDPR	OMIM:261630
HP:0033127	Abnormality of the musculoskeletal system	56160	NSMCE3	OMIM:617241
HP:0033127	Abnormality of the musculoskeletal system	90952	ESAM	OMIM:620371
HP:0033127	Abnormality of the musculoskeletal system	11232	POLG2	ORPHA:254892
HP:0033127	Abnormality of the musculoskeletal system	11232	POLG2	OMIM:610131
HP:0033127	Abnormality of the musculoskeletal system	6638	SNRPN	ORPHA:177904
HP:0033127	Abnormality of the musculoskeletal system	6638	SNRPN	ORPHA:177901
HP:0033127	Abnormality of the musculoskeletal system	6638	SNRPN	ORPHA:98754
HP:0033127	Abnormality of the musculoskeletal system	4692	NDN	ORPHA:177904
HP:0033127	Abnormality of the musculoskeletal system	4692	NDN	ORPHA:177901
HP:0033127	Abnormality of the musculoskeletal system	4692	NDN	ORPHA:98754
HP:0033127	Abnormality of the musculoskeletal system	54551	MAGEL2	ORPHA:177904
HP:0033127	Abnormality of the musculoskeletal system	54551	MAGEL2	ORPHA:177901
HP:0033127	Abnormality of the musculoskeletal system	54551	MAGEL2	ORPHA:98754
HP:0033127	Abnormality of the musculoskeletal system	4948	OCA2	ORPHA:177904
HP:0033127	Abnormality of the musculoskeletal system	4948	OCA2	ORPHA:177901
HP:0033127	Abnormality of the musculoskeletal system	4948	OCA2	ORPHA:98754
HP:0033127	Abnormality of the musculoskeletal system	72	ACTG2	OMIM:155310
HP:0033127	Abnormality of the musculoskeletal system	6651	SON	ORPHA:500150
HP:0033127	Abnormality of the musculoskeletal system	6240	RRM1	OMIM:620647
HP:0033127	Abnormality of the musculoskeletal system	1890	TYMP	OMIM:603041
HP:0033127	Abnormality of the musculoskeletal system	4247	MGAT2	ORPHA:79329
HP:0033127	Abnormality of the musculoskeletal system	54968	TMEM70	OMIM:614052
HP:0033127	Abnormality of the musculoskeletal system	7543	ZFX	OMIM:301118
HP:0033127	Abnormality of the musculoskeletal system	54832	VPS13C	ORPHA:2828
HP:0033127	Abnormality of the musculoskeletal system	11315	PARK7	ORPHA:2828
HP:0033127	Abnormality of the musculoskeletal system	27429	HTRA2	ORPHA:2828
HP:0033127	Abnormality of the musculoskeletal system	120892	LRRK2	ORPHA:2828
HP:0033127	Abnormality of the musculoskeletal system	9829	DNAJC6	ORPHA:2828
HP:0033127	Abnormality of the musculoskeletal system	6622	SNCA	ORPHA:2828
HP:0033127	Abnormality of the musculoskeletal system	5420	PODXL	ORPHA:2828
HP:0033127	Abnormality of the musculoskeletal system	65018	PINK1	ORPHA:2828
HP:0033127	Abnormality of the musculoskeletal system	8867	SYNJ1	ORPHA:2828
HP:0033127	Abnormality of the musculoskeletal system	5071	PRKN	ORPHA:2828
HP:0033127	Abnormality of the musculoskeletal system	145173	B3GLCT	OMIM:261540
HP:0033127	Abnormality of the musculoskeletal system	9496	TBX4	ORPHA:1509
HP:0033127	Abnormality of the musculoskeletal system	100	ADA	OMIM:102700
HP:0033127	Abnormality of the musculoskeletal system	51399	TRAPPC4	OMIM:618741
HP:0033127	Abnormality of the musculoskeletal system	7873	MANF	OMIM:620651
HP:0033127	Abnormality of the musculoskeletal system	23005	MAPKBP1	OMIM:617271
HP:0033127	Abnormality of the musculoskeletal system	118987	PDZD8	OMIM:620021
HP:0033127	Abnormality of the musculoskeletal system	65992	DDRGK1	OMIM:602557
HP:0033127	Abnormality of the musculoskeletal system	23233	EXOC6B	OMIM:618395
HP:0033127	Abnormality of the musculoskeletal system	54187	NANS	OMIM:610442
HP:0033127	Abnormality of the musculoskeletal system	9060	PAPSS2	OMIM:612847
HP:0033127	Abnormality of the musculoskeletal system	2737	GLI3	ORPHA:672
HP:0033127	Abnormality of the musculoskeletal system	10491	CRTAP	ORPHA:2050
HP:0033127	Abnormality of the musculoskeletal system	9871	SEC24D	ORPHA:2050
HP:0033127	Abnormality of the musculoskeletal system	5034	P4HB	ORPHA:2050
HP:0033127	Abnormality of the musculoskeletal system	2697	GJA1	ORPHA:1522
HP:0033127	Abnormality of the musculoskeletal system	79796	ALG9	OMIM:608776
HP:0033127	Abnormality of the musculoskeletal system	79796	ALG9	OMIM:263210
HP:0033127	Abnormality of the musculoskeletal system	79796	ALG9	ORPHA:79328
HP:0033127	Abnormality of the musculoskeletal system	2261	FGFR3	ORPHA:93274
HP:0033127	Abnormality of the musculoskeletal system	2261	FGFR3	ORPHA:429
HP:0033127	Abnormality of the musculoskeletal system	2261	FGFR3	ORPHA:1860
HP:0033127	Abnormality of the musculoskeletal system	224	ALDH3A2	ORPHA:816
HP:0033127	Abnormality of the musculoskeletal system	5728	PTEN	ORPHA:2969
HP:0033127	Abnormality of the musculoskeletal system	3764	KCNJ8	ORPHA:1517
HP:0033127	Abnormality of the musculoskeletal system	10060	ABCC9	ORPHA:1517
HP:0033127	Abnormality of the musculoskeletal system	4072	EPCAM	ORPHA:92050
HP:0033127	Abnormality of the musculoskeletal system	105371045	PERCC1	ORPHA:92050
HP:0033127	Abnormality of the musculoskeletal system	6023	RMRP	ORPHA:175
HP:0033127	Abnormality of the musculoskeletal system	10484	SEC23A	ORPHA:50814
HP:0033127	Abnormality of the musculoskeletal system	3549	IHH	ORPHA:63446
HP:0033127	Abnormality of the musculoskeletal system	284058	KANSL1	ORPHA:363958
HP:0033127	Abnormality of the musculoskeletal system	284058	KANSL1	ORPHA:363965
HP:0033127	Abnormality of the musculoskeletal system	55699	IARS2	ORPHA:436174
HP:0033127	Abnormality of the musculoskeletal system	1001	CDH3	ORPHA:1573
HP:0033127	Abnormality of the musculoskeletal system	79633	FAT4	OMIM:615546
HP:0033127	Abnormality of the musculoskeletal system	8642	DCHS1	OMIM:601390
HP:0033127	Abnormality of the musculoskeletal system	11285	B4GALT7	ORPHA:75496
HP:0033127	Abnormality of the musculoskeletal system	9851	KIAA0753	ORPHA:474
HP:0033127	Abnormality of the musculoskeletal system	55112	DYNC2I1	ORPHA:474
HP:0033127	Abnormality of the musculoskeletal system	26160	IFT172	ORPHA:474
HP:0033127	Abnormality of the musculoskeletal system	153241	CEP120	ORPHA:474
HP:0033127	Abnormality of the musculoskeletal system	57560	IFT80	ORPHA:474
HP:0033127	Abnormality of the musculoskeletal system	79659	DYNC2H1	ORPHA:474
HP:0033127	Abnormality of the musculoskeletal system	9742	IFT140	ORPHA:474
HP:0033127	Abnormality of the musculoskeletal system	57728	WDR19	ORPHA:474
HP:0033127	Abnormality of the musculoskeletal system	89891	DYNC2I2	ORPHA:474
HP:0033127	Abnormality of the musculoskeletal system	79809	TTC21B	ORPHA:474
HP:0033127	Abnormality of the musculoskeletal system	3835	KIF22	ORPHA:93360
HP:0033127	Abnormality of the musculoskeletal system	6608	SMO	OMIM:241800
HP:0033127	Abnormality of the musculoskeletal system	8200	GDF5	ORPHA:2098
HP:0033127	Abnormality of the musculoskeletal system	658	BMPR1B	ORPHA:2098
HP:0033127	Abnormality of the musculoskeletal system	84172	POLR1B	ORPHA:861
HP:0033127	Abnormality of the musculoskeletal system	9533	POLR1C	ORPHA:861
HP:0033127	Abnormality of the musculoskeletal system	51082	POLR1D	ORPHA:861
HP:0033127	Abnormality of the musculoskeletal system	6949	TCOF1	ORPHA:861
HP:0033127	Abnormality of the musculoskeletal system	5264	PHYH	ORPHA:773
HP:0033127	Abnormality of the musculoskeletal system	3977	LIFR	ORPHA:3206
HP:0033127	Abnormality of the musculoskeletal system	59341	TRPV4	ORPHA:2635
HP:0033127	Abnormality of the musculoskeletal system	6885	MAP3K7	ORPHA:1826
HP:0033127	Abnormality of the musculoskeletal system	3339	HSPG2	ORPHA:800
HP:0033127	Abnormality of the musculoskeletal system	71	ACTG1	ORPHA:2995
HP:0033127	Abnormality of the musculoskeletal system	60	ACTB	ORPHA:2995
HP:0033127	Abnormality of the musculoskeletal system	9451	EIF2AK3	ORPHA:1667
HP:0033127	Abnormality of the musculoskeletal system	10262	SF3B4	ORPHA:245
HP:0033127	Abnormality of the musculoskeletal system	91252	SLC39A13	ORPHA:157965
HP:0033127	Abnormality of the musculoskeletal system	10371	SEMA3A	ORPHA:478
HP:0033127	Abnormality of the musculoskeletal system	81848	SPRY4	ORPHA:478
HP:0033127	Abnormality of the musculoskeletal system	23767	FLRT3	ORPHA:478
HP:0033127	Abnormality of the musculoskeletal system	128674	PROKR2	ORPHA:478
HP:0033127	Abnormality of the musculoskeletal system	79625	NDNF	ORPHA:478
HP:0033127	Abnormality of the musculoskeletal system	389549	FEZF1	ORPHA:478
HP:0033127	Abnormality of the musculoskeletal system	1630	DCC	ORPHA:478
HP:0033127	Abnormality of the musculoskeletal system	3730	ANOS1	ORPHA:478
HP:0033127	Abnormality of the musculoskeletal system	54756	IL17RD	ORPHA:478
HP:0033127	Abnormality of the musculoskeletal system	6663	SOX10	ORPHA:478
HP:0033127	Abnormality of the musculoskeletal system	285025	CCDC141	ORPHA:478
HP:0033127	Abnormality of the musculoskeletal system	60675	PROK2	ORPHA:478
HP:0033127	Abnormality of the musculoskeletal system	55636	CHD7	ORPHA:478
HP:0033127	Abnormality of the musculoskeletal system	1848	DUSP6	ORPHA:478
HP:0033127	Abnormality of the musculoskeletal system	6870	TACR3	ORPHA:478
HP:0033127	Abnormality of the musculoskeletal system	55717	WDR11	ORPHA:478
HP:0033127	Abnormality of the musculoskeletal system	9394	HS6ST1	ORPHA:478
HP:0033127	Abnormality of the musculoskeletal system	8820	HESX1	ORPHA:478
HP:0033127	Abnormality of the musculoskeletal system	8822	FGF17	ORPHA:478
HP:0033127	Abnormality of the musculoskeletal system	54808	DYM	ORPHA:239
HP:0033127	Abnormality of the musculoskeletal system	1281	COL3A1	ORPHA:2500
HP:0033127	Abnormality of the musculoskeletal system	9663	LPIN2	OMIM:609628
HP:0033127	Abnormality of the musculoskeletal system	9663	LPIN2	ORPHA:77297
HP:0033127	Abnormality of the musculoskeletal system	171023	ASXL1	ORPHA:98850
HP:0033127	Abnormality of the musculoskeletal system	171023	ASXL1	ORPHA:98849
HP:0033127	Abnormality of the musculoskeletal system	54790	TET2	ORPHA:98850
HP:0033127	Abnormality of the musculoskeletal system	54790	TET2	ORPHA:98849
HP:0033127	Abnormality of the musculoskeletal system	867	CBL	ORPHA:98850
HP:0033127	Abnormality of the musculoskeletal system	861	RUNX1	ORPHA:98850
HP:0033127	Abnormality of the musculoskeletal system	6427	SRSF2	ORPHA:98850
HP:0033127	Abnormality of the musculoskeletal system	6427	SRSF2	ORPHA:98849
HP:0033127	Abnormality of the musculoskeletal system	652	BMP4	ORPHA:828
HP:0033127	Abnormality of the musculoskeletal system	3815	KIT	ORPHA:98849
HP:0033127	Abnormality of the musculoskeletal system	1186	CLCN7	ORPHA:667
HP:0033127	Abnormality of the musculoskeletal system	1186	CLCN7	ORPHA:53
HP:0033127	Abnormality of the musculoskeletal system	29887	SNX10	ORPHA:667
HP:0033127	Abnormality of the musculoskeletal system	8600	TNFSF11	ORPHA:667
HP:0033127	Abnormality of the musculoskeletal system	5604	MAP2K1	ORPHA:389
HP:0033127	Abnormality of the musculoskeletal system	4893	NRAS	ORPHA:389
HP:0033127	Abnormality of the musculoskeletal system	673	BRAF	ORPHA:389
HP:0033127	Abnormality of the musculoskeletal system	79577	CDC73	ORPHA:143
HP:0033127	Abnormality of the musculoskeletal system	79577	CDC73	ORPHA:99880
HP:0033127	Abnormality of the musculoskeletal system	8792	TNFRSF11A	OMIM:174810
HP:0033127	Abnormality of the musculoskeletal system	8792	TNFRSF11A	OMIM:602080
HP:0033127	Abnormality of the musculoskeletal system	1184	CLCN5	OMIM:300009
HP:0033127	Abnormality of the musculoskeletal system	1184	CLCN5	OMIM:300554
HP:0033127	Abnormality of the musculoskeletal system	23095	KIF1B	OMIM:256700
HP:0033127	Abnormality of the musculoskeletal system	120227	CYP2R1	OMIM:600081
HP:0033127	Abnormality of the musculoskeletal system	120227	CYP2R1	ORPHA:289157
HP:0033127	Abnormality of the musculoskeletal system	2304	FOXE1	ORPHA:319487
HP:0033127	Abnormality of the musculoskeletal system	3026	HABP2	ORPHA:319487
HP:0033127	Abnormality of the musculoskeletal system	9562	MINPP1	ORPHA:319487
HP:0033127	Abnormality of the musculoskeletal system	5745	PTH1R	ORPHA:296
HP:0033127	Abnormality of the musculoskeletal system	3418	IDH2	ORPHA:296
HP:0033127	Abnormality of the musculoskeletal system	3418	IDH2	ORPHA:163634
HP:0033127	Abnormality of the musculoskeletal system	3417	IDH1	ORPHA:296
HP:0033127	Abnormality of the musculoskeletal system	3417	IDH1	ORPHA:163634
HP:0033127	Abnormality of the musculoskeletal system	5426	POLE	OMIM:615139
HP:0033127	Abnormality of the musculoskeletal system	6578	SLCO2A1	ORPHA:2796
HP:0033127	Abnormality of the musculoskeletal system	1175	AP2S1	OMIM:600740
HP:0033127	Abnormality of the musculoskeletal system	1594	CYP27B1	OMIM:264700
HP:0033127	Abnormality of the musculoskeletal system	1594	CYP27B1	ORPHA:289157
HP:0033127	Abnormality of the musculoskeletal system	7010	TEK	ORPHA:1059
HP:0033127	Abnormality of the musculoskeletal system	7471	WNT1	ORPHA:85193
HP:0033127	Abnormality of the musculoskeletal system	22943	DKK1	ORPHA:85193
HP:0033127	Abnormality of the musculoskeletal system	89780	WNT3A	ORPHA:85193
HP:0033127	Abnormality of the musculoskeletal system	5660	PSAP	OMIM:610539
HP:0033127	Abnormality of the musculoskeletal system	1588	CYP19A1	ORPHA:91
HP:0033127	Abnormality of the musculoskeletal system	8074	FGF23	ORPHA:89937
HP:0033127	Abnormality of the musculoskeletal system	8074	FGF23	OMIM:193100
HP:0033127	Abnormality of the musculoskeletal system	595	CCND1	ORPHA:29073
HP:0033127	Abnormality of the musculoskeletal system	5781	PTPN11	ORPHA:2499
HP:0033127	Abnormality of the musculoskeletal system	540	ATP7B	ORPHA:905
HP:0033127	Abnormality of the musculoskeletal system	7040	TGFB1	ORPHA:1328
HP:0033127	Abnormality of the musculoskeletal system	2131	EXT1	ORPHA:502
HP:0033127	Abnormality of the musculoskeletal system	5885	RAD21	ORPHA:502
HP:0033127	Abnormality of the musculoskeletal system	7227	TRPS1	ORPHA:502
HP:0033127	Abnormality of the musculoskeletal system	5345	SERPINF2	ORPHA:79
HP:0033127	Abnormality of the musculoskeletal system	2629	GBA1	OMIM:230800
HP:0033127	Abnormality of the musculoskeletal system	2629	GBA1	ORPHA:77261
HP:0033127	Abnormality of the musculoskeletal system	2629	GBA1	ORPHA:77259
HP:0033127	Abnormality of the musculoskeletal system	8878	SQSTM1	OMIM:167250
HP:0033127	Abnormality of the musculoskeletal system	1962	EHHADH	ORPHA:3337
HP:0033127	Abnormality of the musculoskeletal system	2628	GATM	ORPHA:3337
HP:0033127	Abnormality of the musculoskeletal system	137682	NDUFAF6	ORPHA:3337
HP:0033127	Abnormality of the musculoskeletal system	3554	IL1R1	OMIM:259680
HP:0033127	Abnormality of the musculoskeletal system	1758	DMP1	ORPHA:289176
HP:0033127	Abnormality of the musculoskeletal system	79158	GNPTAB	ORPHA:423461
HP:0033127	Abnormality of the musculoskeletal system	5371	PML	ORPHA:520
HP:0033127	Abnormality of the musculoskeletal system	5914	RARA	ORPHA:520
HP:0033127	Abnormality of the musculoskeletal system	359948	IRF2BP2	ORPHA:520
HP:0033127	Abnormality of the musculoskeletal system	81608	FIP1L1	ORPHA:520
HP:0033127	Abnormality of the musculoskeletal system	4869	NPM1	ORPHA:520
HP:0033127	Abnormality of the musculoskeletal system	5573	PRKAR1A	ORPHA:520
HP:0033127	Abnormality of the musculoskeletal system	54880	BCOR	ORPHA:520
HP:0033127	Abnormality of the musculoskeletal system	64859	NABP1	ORPHA:520
HP:0033127	Abnormality of the musculoskeletal system	6777	STAT5B	ORPHA:520
HP:0033127	Abnormality of the musculoskeletal system	4926	NUMA1	ORPHA:520
HP:0033127	Abnormality of the musculoskeletal system	7704	ZBTB16	ORPHA:520
HP:0033127	Abnormality of the musculoskeletal system	79718	TBL1XR1	ORPHA:520
HP:0033127	Abnormality of the musculoskeletal system	57592	ZNF687	OMIM:616833
HP:0033127	Abnormality of the musculoskeletal system	5696	PSMB8	OMIM:256040
HP:0033127	Abnormality of the musculoskeletal system	950	SCARB2	ORPHA:77259
HP:0033127	Abnormality of the musculoskeletal system	4613	MYCN	ORPHA:635
HP:0033127	Abnormality of the musculoskeletal system	238	ALK	ORPHA:635
HP:0033127	Abnormality of the musculoskeletal system	389421	LIN28B	ORPHA:635
HP:0033127	Abnormality of the musculoskeletal system	4004	LMO1	ORPHA:635
HP:0033127	Abnormality of the musculoskeletal system	57531	HACE1	ORPHA:635
HP:0033127	Abnormality of the musculoskeletal system	8929	PHOX2B	ORPHA:635
HP:0033127	Abnormality of the musculoskeletal system	6134	RPL10	OMIM:300998
HP:0033127	Abnormality of the musculoskeletal system	6134	RPL10	ORPHA:459070
HP:0033127	Abnormality of the musculoskeletal system	8720	MBTPS1	OMIM:618392
HP:0033127	Abnormality of the musculoskeletal system	1311	COMP	OMIM:132400
HP:0033127	Abnormality of the musculoskeletal system	3313	HSPA9	OMIM:616854
HP:0033127	Abnormality of the musculoskeletal system	1806	DPYD	ORPHA:1675
HP:0033127	Abnormality of the musculoskeletal system	9842	PLEKHM1	ORPHA:210110
HP:0033127	Abnormality of the musculoskeletal system	3763	KCNJ6	ORPHA:435628
HP:0033127	Abnormality of the musculoskeletal system	3572	IL6ST	OMIM:619752
HP:0033127	Abnormality of the musculoskeletal system	9368	NHERF1	OMIM:612287
HP:0033127	Abnormality of the musculoskeletal system	1593	CYP27A1	ORPHA:909
HP:0033127	Abnormality of the musculoskeletal system	249	ALPL	OMIM:146300
HP:0033127	Abnormality of the musculoskeletal system	249	ALPL	OMIM:241500
HP:0033127	Abnormality of the musculoskeletal system	2335	FN1	ORPHA:93315
HP:0033127	Abnormality of the musculoskeletal system	1280	COL2A1	ORPHA:93315
HP:0033127	Abnormality of the musculoskeletal system	5352	PLOD2	OMIM:609220
HP:0033127	Abnormality of the musculoskeletal system	54453	RIN2	ORPHA:217335
HP:0033127	Abnormality of the musculoskeletal system	5176	SERPINF1	OMIM:613982
HP:0033127	Abnormality of the musculoskeletal system	79798	ARMC5	ORPHA:189427
HP:0033127	Abnormality of the musculoskeletal system	23028	KDM1A	ORPHA:189427
HP:0033127	Abnormality of the musculoskeletal system	55249	YY1AP1	ORPHA:79094
HP:0033127	Abnormality of the musculoskeletal system	55249	YY1AP1	OMIM:602531
HP:0033127	Abnormality of the musculoskeletal system	4041	LRP5	OMIM:259770
HP:0033127	Abnormality of the musculoskeletal system	4041	LRP5	ORPHA:2788
HP:0033127	Abnormality of the musculoskeletal system	60681	FKBP10	OMIM:259450
HP:0033127	Abnormality of the musculoskeletal system	60681	FKBP10	OMIM:610968
HP:0033127	Abnormality of the musculoskeletal system	55768	NGLY1	ORPHA:404454
HP:0033127	Abnormality of the musculoskeletal system	3178	HNRNPA1	ORPHA:52430
HP:0033127	Abnormality of the musculoskeletal system	3181	HNRNPA2B1	ORPHA:52430
HP:0033127	Abnormality of the musculoskeletal system	2542	SLC37A4	ORPHA:79259
HP:0033127	Abnormality of the musculoskeletal system	90	ACVR1	ORPHA:337
HP:0033127	Abnormality of the musculoskeletal system	4221	MEN1	ORPHA:652
HP:0033127	Abnormality of the musculoskeletal system	1027	CDKN1B	ORPHA:652
HP:0033127	Abnormality of the musculoskeletal system	1026	CDKN1A	ORPHA:652
HP:0033127	Abnormality of the musculoskeletal system	1030	CDKN2B	ORPHA:652
HP:0033127	Abnormality of the musculoskeletal system	1031	CDKN2C	ORPHA:652
HP:0033127	Abnormality of the musculoskeletal system	4358	MPV17	OMIM:256810
HP:0033127	Abnormality of the musculoskeletal system	3081	HGD	ORPHA:56
HP:0033127	Abnormality of the musculoskeletal system	4313	MMP2	ORPHA:371428
HP:0033127	Abnormality of the musculoskeletal system	4323	MMP14	ORPHA:371428
HP:0033127	Abnormality of the musculoskeletal system	1678	TIMM8A	OMIM:304700
HP:0033127	Abnormality of the musculoskeletal system	1513	CTSK	ORPHA:763
HP:0033127	Abnormality of the musculoskeletal system	4784	NFIX	ORPHA:561
HP:0033127	Abnormality of the musculoskeletal system	860	RUNX2	OMIM:119600
HP:0033127	Abnormality of the musculoskeletal system	80025	PANK2	ORPHA:216866
HP:0033127	Abnormality of the musculoskeletal system	55151	TMEM38B	OMIM:615066
HP:0033127	Abnormality of the musculoskeletal system	80169	CTC1	OMIM:612199
HP:0033127	Abnormality of the musculoskeletal system	1134	CHRNA1	OMIM:253290
HP:0033127	Abnormality of the musculoskeletal system	1144	CHRND	OMIM:253290
HP:0033127	Abnormality of the musculoskeletal system	406932	MIR140	OMIM:618618
HP:0033127	Abnormality of the musculoskeletal system	55027	HEATR3	OMIM:620072
HP:0033127	Abnormality of the musculoskeletal system	55027	HEATR3	ORPHA:124
HP:0033127	Abnormality of the musculoskeletal system	6138	RPL15	ORPHA:124
HP:0033127	Abnormality of the musculoskeletal system	6165	RPL35A	ORPHA:124
HP:0033127	Abnormality of the musculoskeletal system	6132	RPL8	ORPHA:124
HP:0033127	Abnormality of the musculoskeletal system	6223	RPS19	ORPHA:124
HP:0033127	Abnormality of the musculoskeletal system	6223	RPS19	OMIM:105650
HP:0033127	Abnormality of the musculoskeletal system	6232	RPS27	ORPHA:124
HP:0033127	Abnormality of the musculoskeletal system	6160	RPL31	ORPHA:124
HP:0033127	Abnormality of the musculoskeletal system	6201	RPS7	ORPHA:124
HP:0033127	Abnormality of the musculoskeletal system	6155	RPL27	ORPHA:124
HP:0033127	Abnormality of the musculoskeletal system	6135	RPL11	ORPHA:124
HP:0033127	Abnormality of the musculoskeletal system	6229	RPS24	ORPHA:124
HP:0033127	Abnormality of the musculoskeletal system	6125	RPL5	ORPHA:124
HP:0033127	Abnormality of the musculoskeletal system	6204	RPS10	ORPHA:124
HP:0033127	Abnormality of the musculoskeletal system	6133	RPL9	ORPHA:124
HP:0033127	Abnormality of the musculoskeletal system	11224	RPL35	ORPHA:124
HP:0033127	Abnormality of the musculoskeletal system	6218	RPS17	ORPHA:124
HP:0033127	Abnormality of the musculoskeletal system	6154	RPL26	ORPHA:124
HP:0033127	Abnormality of the musculoskeletal system	6210	RPS15A	ORPHA:124
HP:0033127	Abnormality of the musculoskeletal system	90121	TSR2	ORPHA:124
HP:0033127	Abnormality of the musculoskeletal system	6141	RPL18	ORPHA:124
HP:0033127	Abnormality of the musculoskeletal system	6235	RPS29	ORPHA:124
HP:0033127	Abnormality of the musculoskeletal system	10736	SIX2	ORPHA:488437
HP:0033127	Abnormality of the musculoskeletal system	29899	GPSM2	OMIM:604213
HP:0033127	Abnormality of the musculoskeletal system	570	BAAT	OMIM:619232
HP:0033127	Abnormality of the musculoskeletal system	6718	AKR1D1	ORPHA:79303
HP:0033127	Abnormality of the musculoskeletal system	9414	TJP2	OMIM:607748
HP:0033127	Abnormality of the musculoskeletal system	50617	ATP6V0A4	OMIM:602722
HP:0033127	Abnormality of the musculoskeletal system	2972	BRF1	OMIM:616202
HP:0033127	Abnormality of the musculoskeletal system	2972	BRF1	ORPHA:444072
HP:0033127	Abnormality of the musculoskeletal system	10973	ASCC3	OMIM:620700
HP:0033127	Abnormality of the musculoskeletal system	3481	IGF2	ORPHA:231140
HP:0033127	Abnormality of the musculoskeletal system	3481	IGF2	ORPHA:231144
HP:0033127	Abnormality of the musculoskeletal system	3481	IGF2	OMIM:616489
HP:0033127	Abnormality of the musculoskeletal system	3481	IGF2	OMIM:180860
HP:0033127	Abnormality of the musculoskeletal system	283120	H19	ORPHA:231140
HP:0033127	Abnormality of the musculoskeletal system	283120	H19	ORPHA:231144
HP:0033127	Abnormality of the musculoskeletal system	197131	UBR1	OMIM:243800
HP:0033127	Abnormality of the musculoskeletal system	197131	UBR1	ORPHA:2315
HP:0033127	Abnormality of the musculoskeletal system	2099	ESR1	OMIM:615363
HP:0033127	Abnormality of the musculoskeletal system	1528	CYB5A	ORPHA:90796
HP:0033127	Abnormality of the musculoskeletal system	10908	PNPLA6	OMIM:275400
HP:0033127	Abnormality of the musculoskeletal system	10908	PNPLA6	ORPHA:3363
HP:0033127	Abnormality of the musculoskeletal system	7252	TSHB	ORPHA:90674
HP:0033127	Abnormality of the musculoskeletal system	6884	TAF13	OMIM:617432
HP:0033127	Abnormality of the musculoskeletal system	2688	GH1	OMIM:262650
HP:0033127	Abnormality of the musculoskeletal system	2688	GH1	OMIM:612781
HP:0033127	Abnormality of the musculoskeletal system	55366	LGR4	OMIM:619613
HP:0033127	Abnormality of the musculoskeletal system	4297	KMT2A	ORPHA:319182
HP:0033127	Abnormality of the musculoskeletal system	4297	KMT2A	OMIM:605130
HP:0033127	Abnormality of the musculoskeletal system	8036	SHOC2	ORPHA:2701
HP:0033127	Abnormality of the musculoskeletal system	5500	PPP1CB	ORPHA:2701
HP:0033127	Abnormality of the musculoskeletal system	5500	PPP1CB	OMIM:617506
HP:0033127	Abnormality of the musculoskeletal system	55012	PPP2R3C	OMIM:618419
HP:0033127	Abnormality of the musculoskeletal system	26057	ANKRD17	OMIM:619504
HP:0033127	Abnormality of the musculoskeletal system	54888	NSUN2	ORPHA:235
HP:0033127	Abnormality of the musculoskeletal system	4322	MMP13	OMIM:602111
HP:0033127	Abnormality of the musculoskeletal system	4322	MMP13	ORPHA:2501
HP:0033127	Abnormality of the musculoskeletal system	402381	SOHLH1	OMIM:617690
HP:0033127	Abnormality of the musculoskeletal system	5593	PRKG2	OMIM:619638
HP:0033127	Abnormality of the musculoskeletal system	148867	SLC30A7	OMIM:620501
HP:0033127	Abnormality of the musculoskeletal system	4882	NPR2	OMIM:616255
HP:0033127	Abnormality of the musculoskeletal system	11261	CHP1	OMIM:618438
HP:0033127	Abnormality of the musculoskeletal system	5286	PIK3C2A	OMIM:618440
HP:0033127	Abnormality of the musculoskeletal system	5286	PIK3C2A	ORPHA:557003
HP:0033127	Abnormality of the musculoskeletal system	84168	ANTXR1	OMIM:230740
HP:0033127	Abnormality of the musculoskeletal system	84168	ANTXR1	ORPHA:2067
HP:0033127	Abnormality of the musculoskeletal system	404672	GTF2H5	ORPHA:33364
HP:0033127	Abnormality of the musculoskeletal system	7737	RNF113A	ORPHA:33364
HP:0033127	Abnormality of the musculoskeletal system	136647	MPLKIP	ORPHA:33364
HP:0033127	Abnormality of the musculoskeletal system	6897	TARS1	ORPHA:33364
HP:0033127	Abnormality of the musculoskeletal system	2071	ERCC3	ORPHA:33364
HP:0033127	Abnormality of the musculoskeletal system	2071	ERCC3	ORPHA:910
HP:0033127	Abnormality of the musculoskeletal system	2961	GTF2E2	ORPHA:33364
HP:0033127	Abnormality of the musculoskeletal system	2961	GTF2E2	OMIM:616943
HP:0033127	Abnormality of the musculoskeletal system	2317	FLNB	OMIM:272460
HP:0033127	Abnormality of the musculoskeletal system	29893	PSMC3IP	ORPHA:243
HP:0033127	Abnormality of the musculoskeletal system	171568	POLR3H	ORPHA:243
HP:0033127	Abnormality of the musculoskeletal system	2516	NR5A1	ORPHA:243
HP:0033127	Abnormality of the musculoskeletal system	2516	NR5A1	ORPHA:251510
HP:0033127	Abnormality of the musculoskeletal system	125150	ZSWIM7	ORPHA:243
HP:0033127	Abnormality of the musculoskeletal system	9210	BMP15	ORPHA:243
HP:0033127	Abnormality of the musculoskeletal system	23514	SPIDR	ORPHA:243
HP:0033127	Abnormality of the musculoskeletal system	23514	SPIDR	OMIM:619665
HP:0033127	Abnormality of the musculoskeletal system	2492	FSHR	ORPHA:243
HP:0033127	Abnormality of the musculoskeletal system	56945	MRPS22	ORPHA:243
HP:0033127	Abnormality of the musculoskeletal system	56945	MRPS22	OMIM:618117
HP:0033127	Abnormality of the musculoskeletal system	646	BNC1	ORPHA:243
HP:0033127	Abnormality of the musculoskeletal system	4438	MSH4	ORPHA:243
HP:0033127	Abnormality of the musculoskeletal system	7201	TRHR	OMIM:618573
HP:0033127	Abnormality of the musculoskeletal system	7201	TRHR	ORPHA:99832
HP:0033127	Abnormality of the musculoskeletal system	5626	PROP1	ORPHA:90695
HP:0033127	Abnormality of the musculoskeletal system	5626	PROP1	ORPHA:95494
HP:0033127	Abnormality of the musculoskeletal system	6658	SOX3	ORPHA:90695
HP:0033127	Abnormality of the musculoskeletal system	6658	SOX3	ORPHA:67045
HP:0033127	Abnormality of the musculoskeletal system	3479	IGF1	ORPHA:73272
HP:0033127	Abnormality of the musculoskeletal system	3479	IGF1	OMIM:608747
HP:0033127	Abnormality of the musculoskeletal system	26012	NSMF	ORPHA:432
HP:0033127	Abnormality of the musculoskeletal system	4808	NHLH2	ORPHA:432
HP:0033127	Abnormality of the musculoskeletal system	2796	GNRH1	ORPHA:432
HP:0033127	Abnormality of the musculoskeletal system	2798	GNRHR	ORPHA:432
HP:0033127	Abnormality of the musculoskeletal system	84634	KISS1R	ORPHA:432
HP:0033127	Abnormality of the musculoskeletal system	84634	KISS1R	OMIM:614837
HP:0033127	Abnormality of the musculoskeletal system	6866	TAC3	ORPHA:432
HP:0033127	Abnormality of the musculoskeletal system	3814	KISS1	ORPHA:432
HP:0033127	Abnormality of the musculoskeletal system	3814	KISS1	OMIM:614842
HP:0033127	Abnormality of the musculoskeletal system	4598	MVK	ORPHA:29
HP:0033127	Abnormality of the musculoskeletal system	90459	ERI1	OMIM:620663
HP:0033127	Abnormality of the musculoskeletal system	90459	ERI1	OMIM:620662
HP:0033127	Abnormality of the musculoskeletal system	4054	LTBP3	OMIM:601216
HP:0033127	Abnormality of the musculoskeletal system	4054	LTBP3	ORPHA:969
HP:0033127	Abnormality of the musculoskeletal system	4054	LTBP3	OMIM:617809
HP:0033127	Abnormality of the musculoskeletal system	6729	SRP54	OMIM:260400
HP:0033127	Abnormality of the musculoskeletal system	254394	MCM9	OMIM:616185
HP:0033127	Abnormality of the musculoskeletal system	8260	NAA10	OMIM:300855
HP:0033127	Abnormality of the musculoskeletal system	51608	GET4	OMIM:620200
HP:0033127	Abnormality of the musculoskeletal system	7703	PCGF2	OMIM:618371
HP:0033127	Abnormality of the musculoskeletal system	5000	ORC4	OMIM:613800
HP:0033127	Abnormality of the musculoskeletal system	5000	ORC4	ORPHA:2554
HP:0033127	Abnormality of the musculoskeletal system	81620	CDT1	OMIM:613804
HP:0033127	Abnormality of the musculoskeletal system	81620	CDT1	ORPHA:2554
HP:0033127	Abnormality of the musculoskeletal system	23594	ORC6	OMIM:613803
HP:0033127	Abnormality of the musculoskeletal system	23594	ORC6	ORPHA:2554
HP:0033127	Abnormality of the musculoskeletal system	84701	COX4I2	OMIM:612714
HP:0033127	Abnormality of the musculoskeletal system	990	CDC6	OMIM:613805
HP:0033127	Abnormality of the musculoskeletal system	990	CDC6	ORPHA:2554
HP:0033127	Abnormality of the musculoskeletal system	10847	SRCAP	OMIM:619595
HP:0033127	Abnormality of the musculoskeletal system	10847	SRCAP	ORPHA:2044
HP:0033127	Abnormality of the musculoskeletal system	10847	SRCAP	OMIM:136140
HP:0033127	Abnormality of the musculoskeletal system	4796	TONSL	OMIM:271510
HP:0033127	Abnormality of the musculoskeletal system	8567	MADD	OMIM:619004
HP:0033127	Abnormality of the musculoskeletal system	2692	GHRHR	OMIM:618157
HP:0033127	Abnormality of the musculoskeletal system	55599	RNPC3	OMIM:618160
HP:0033127	Abnormality of the musculoskeletal system	89970	RSPRY1	ORPHA:457395
HP:0033127	Abnormality of the musculoskeletal system	89970	RSPRY1	OMIM:616723
HP:0033127	Abnormality of the musculoskeletal system	51594	NBAS	OMIM:614800
HP:0033127	Abnormality of the musculoskeletal system	7474	WNT5A	OMIM:180700
HP:0033127	Abnormality of the musculoskeletal system	1855	DVL1	OMIM:180700
HP:0033127	Abnormality of the musculoskeletal system	3735	KARS1	OMIM:619147
HP:0033127	Abnormality of the musculoskeletal system	2693	GHSR	ORPHA:314811
HP:0033127	Abnormality of the musculoskeletal system	2693	GHSR	OMIM:615925
HP:0033127	Abnormality of the musculoskeletal system	176	ACAN	OMIM:608361
HP:0033127	Abnormality of the musculoskeletal system	150468	CKAP2L	ORPHA:3255
HP:0033127	Abnormality of the musculoskeletal system	56992	KIF15	ORPHA:261323
HP:0033127	Abnormality of the musculoskeletal system	80204	FBXO11	OMIM:618089
HP:0033127	Abnormality of the musculoskeletal system	3483	IGFALS	ORPHA:140941
HP:0033127	Abnormality of the musculoskeletal system	1327	COX4I1	OMIM:619060
HP:0033127	Abnormality of the musculoskeletal system	51199	NIN	OMIM:614851
HP:0033127	Abnormality of the musculoskeletal system	51199	NIN	ORPHA:319675
HP:0033127	Abnormality of the musculoskeletal system	6845	VAMP7	ORPHA:251510
HP:0033127	Abnormality of the musculoskeletal system	51741	WWOX	ORPHA:251510
HP:0033127	Abnormality of the musculoskeletal system	4214	MAP3K1	ORPHA:251510
HP:0033127	Abnormality of the musculoskeletal system	57647	DHX37	ORPHA:251510
HP:0033127	Abnormality of the musculoskeletal system	6736	SRY	ORPHA:251510
HP:0033127	Abnormality of the musculoskeletal system	6736	SRY	ORPHA:1772
HP:0033127	Abnormality of the musculoskeletal system	1028	CDKN1C	OMIM:614732
HP:0033127	Abnormality of the musculoskeletal system	5826	ABCD4	OMIM:614857
HP:0033127	Abnormality of the musculoskeletal system	7025	NR2F1	ORPHA:401777
HP:0033127	Abnormality of the musculoskeletal system	10056	FARSB	OMIM:613658
HP:0033127	Abnormality of the musculoskeletal system	89884	LHX4	ORPHA:95494
HP:0033127	Abnormality of the musculoskeletal system	3170	FOXA2	ORPHA:95494
HP:0033127	Abnormality of the musculoskeletal system	5449	POU1F1	ORPHA:95494
HP:0033127	Abnormality of the musculoskeletal system	5015	OTX2	ORPHA:95494
HP:0033127	Abnormality of the musculoskeletal system	84919	PPP1R15B	OMIM:616817
HP:0033127	Abnormality of the musculoskeletal system	4920	ROR2	OMIM:268310
HP:0033127	Abnormality of the musculoskeletal system	170691	ADAMTS17	ORPHA:3449
HP:0033127	Abnormality of the musculoskeletal system	4053	LTBP2	ORPHA:3449
HP:0033127	Abnormality of the musculoskeletal system	81794	ADAMTS10	ORPHA:3449
HP:0033127	Abnormality of the musculoskeletal system	147372	CCBE1	OMIM:235510
HP:0033127	Abnormality of the musculoskeletal system	51025	PAM16	OMIM:613320
HP:0033127	Abnormality of the musculoskeletal system	51053	GMNN	OMIM:616835
HP:0033127	Abnormality of the musculoskeletal system	51053	GMNN	ORPHA:2554
HP:0033127	Abnormality of the musculoskeletal system	6307	MSMO1	OMIM:616834
HP:0033127	Abnormality of the musculoskeletal system	55081	IFT57	OMIM:617927
HP:0033127	Abnormality of the musculoskeletal system	7507	XPA	ORPHA:910
HP:0033127	Abnormality of the musculoskeletal system	7508	XPC	ORPHA:910
HP:0033127	Abnormality of the musculoskeletal system	1643	DDB2	ORPHA:910
HP:0033127	Abnormality of the musculoskeletal system	2073	ERCC5	ORPHA:910
HP:0033127	Abnormality of the musculoskeletal system	2245	FGD1	OMIM:305400
HP:0033127	Abnormality of the musculoskeletal system	2879	GPX4	ORPHA:93317
HP:0033127	Abnormality of the musculoskeletal system	2138	EYA1	ORPHA:2792
HP:0033127	Abnormality of the musculoskeletal system	5075	PAX1	ORPHA:2792
HP:0033127	Abnormality of the musculoskeletal system	8318	CDC45	ORPHA:2554
HP:0033127	Abnormality of the musculoskeletal system	7067	THRA	OMIM:614450
HP:0033127	Abnormality of the musculoskeletal system	29980	DONSON	OMIM:617604
HP:0033127	Abnormality of the musculoskeletal system	55325	UFSP2	OMIM:617974
HP:0033127	Abnormality of the musculoskeletal system	54870	QRICH1	OMIM:617982
HP:0033127	Abnormality of the musculoskeletal system	83737	ITCH	OMIM:613385
HP:0033127	Abnormality of the musculoskeletal system	5456	POU3F4	ORPHA:1435
HP:0033127	Abnormality of the musculoskeletal system	650	BMP2	OMIM:617877
HP:0033127	Abnormality of the musculoskeletal system	1804	DPP6	OMIM:616311
HP:0033127	Abnormality of the musculoskeletal system	10892	MALT1	OMIM:615468
HP:0033127	Abnormality of the musculoskeletal system	3636	INPPL1	ORPHA:2746
HP:0033127	Abnormality of the musculoskeletal system	3149	HMGB3	OMIM:300915
HP:0033127	Abnormality of the musculoskeletal system	3689	ITGB2	OMIM:116920
HP:0033127	Abnormality of the musculoskeletal system	25923	ATL3	OMIM:615632
HP:0033127	Abnormality of the musculoskeletal system	25923	ATL3	ORPHA:36386
HP:0033127	Abnormality of the musculoskeletal system	4803	NGF	OMIM:608654
HP:0033127	Abnormality of the musculoskeletal system	3106	HLA-B	ORPHA:29207
HP:0033127	Abnormality of the musculoskeletal system	6340	SCNN1G	ORPHA:171876
HP:0033127	Abnormality of the musculoskeletal system	6337	SCNN1A	ORPHA:171876
HP:0033127	Abnormality of the musculoskeletal system	6338	SCNN1B	ORPHA:171876
HP:0033127	Abnormality of the musculoskeletal system	3557	IL1RN	OMIM:612852
HP:0033127	Abnormality of the musculoskeletal system	1786	DNMT1	OMIM:614116
HP:0033127	Abnormality of the musculoskeletal system	51062	ATL1	OMIM:613708
HP:0033127	Abnormality of the musculoskeletal system	51062	ATL1	ORPHA:36386
HP:0033127	Abnormality of the musculoskeletal system	10558	SPTLC1	OMIM:162400
HP:0033127	Abnormality of the musculoskeletal system	10558	SPTLC1	ORPHA:36386
HP:0033127	Abnormality of the musculoskeletal system	84905	ZNF341	OMIM:618282
HP:0033127	Abnormality of the musculoskeletal system	5966	REL	OMIM:619652
HP:0033127	Abnormality of the musculoskeletal system	6772	STAT1	OMIM:614162
HP:0033127	Abnormality of the musculoskeletal system	28982	FLVCR1	ORPHA:88628
HP:0033127	Abnormality of the musculoskeletal system	8218	CLTCL1	ORPHA:453510
HP:0033127	Abnormality of the musculoskeletal system	50943	FOXP3	ORPHA:37042
HP:0033127	Abnormality of the musculoskeletal system	3459	IFNGR1	OMIM:615978
HP:0033127	Abnormality of the musculoskeletal system	54463	RETREG1	OMIM:613115
HP:0033127	Abnormality of the musculoskeletal system	2019	EN1	OMIM:619218
HP:0033127	Abnormality of the musculoskeletal system	29110	TBK1	OMIM:620880
HP:0033127	Abnormality of the musculoskeletal system	6850	SYK	OMIM:619381
HP:0033127	Abnormality of the musculoskeletal system	4914	NTRK1	ORPHA:642
HP:0033127	Abnormality of the musculoskeletal system	4914	NTRK1	OMIM:256800
HP:0033127	Abnormality of the musculoskeletal system	81704	DOCK8	OMIM:243700
HP:0033127	Abnormality of the musculoskeletal system	205327	C2orf69	OMIM:619423
HP:0033127	Abnormality of the musculoskeletal system	28985	MCTS1	OMIM:301115
HP:0033127	Abnormality of the musculoskeletal system	5283	PIGH	OMIM:618010
HP:0033127	Abnormality of the musculoskeletal system	9517	SPTLC2	OMIM:613640
HP:0033127	Abnormality of the musculoskeletal system	9517	SPTLC2	ORPHA:36386
HP:0033127	Abnormality of the musculoskeletal system	51124	IER3IP1	OMIM:614231
HP:0033127	Abnormality of the musculoskeletal system	4233	MET	OMIM:607278
HP:0033127	Abnormality of the musculoskeletal system	6522	SLC4A2	OMIM:620366
HP:0033127	Abnormality of the musculoskeletal system	8985	PLOD3	OMIM:612394
HP:0033127	Abnormality of the musculoskeletal system	1301	COL11A1	OMIM:604841
HP:0033127	Abnormality of the musculoskeletal system	10265	IRX5	OMIM:611174
HP:0033127	Abnormality of the musculoskeletal system	55603	TENT5A	OMIM:617952
HP:0033127	Abnormality of the musculoskeletal system	90993	CREB3L1	OMIM:616229
HP:0033127	Abnormality of the musculoskeletal system	1501	CTNND2	ORPHA:281
HP:0033127	Abnormality of the musculoskeletal system	9037	SEMA5A	ORPHA:281
HP:0033127	Abnormality of the musculoskeletal system	760	CA2	ORPHA:2785
HP:0033127	Abnormality of the musculoskeletal system	9276	COPB2	OMIM:619884
HP:0033127	Abnormality of the musculoskeletal system	23187	PHLDB1	OMIM:620639
HP:0033127	Abnormality of the musculoskeletal system	55898	UNC45A	OMIM:619377
HP:0033127	Abnormality of the musculoskeletal system	11014	KDELR2	OMIM:619131
HP:0033127	Abnormality of the musculoskeletal system	25913	POT1	OMIM:620368
HP:0033127	Abnormality of the musculoskeletal system	166929	SGMS2	OMIM:126550
HP:0033127	Abnormality of the musculoskeletal system	84181	CHD6	ORPHA:2108
HP:0033127	Abnormality of the musculoskeletal system	30061	SLC40A1	OMIM:606069
HP:0033127	Abnormality of the musculoskeletal system	54829	ASPN	OMIM:607850
HP:0033127	Abnormality of the musculoskeletal system	6999	TDO2	OMIM:600627
HP:0033127	Abnormality of the musculoskeletal system	4488	MSX2	ORPHA:60015
HP:0033127	Abnormality of the musculoskeletal system	2132	EXT2	ORPHA:321
HP:0033127	Abnormality of the musculoskeletal system	10682	EBP	OMIM:302960
HP:0033127	Abnormality of the musculoskeletal system	4921	DDR2	OMIM:271665
HP:0033127	Abnormality of the musculoskeletal system	4256	MGP	OMIM:245150
HP:0033127	Abnormality of the musculoskeletal system	415	ARSL	ORPHA:79345
HP:0033127	Abnormality of the musculoskeletal system	64065	PERP	ORPHA:659
HP:0033127	Abnormality of the musculoskeletal system	9487	PIGL	ORPHA:3474
HP:0033127	Abnormality of the musculoskeletal system	777	CACNA1E	OMIM:618285
HP:0033127	Abnormality of the musculoskeletal system	100128927	ZBTB42	OMIM:616248
HP:0033127	Abnormality of the musculoskeletal system	1020	CDK5	OMIM:616342
HP:0033127	Abnormality of the musculoskeletal system	23265	EXOC7	OMIM:619072
HP:0033127	Abnormality of the musculoskeletal system	55165	CEP55	OMIM:236500
HP:0033127	Abnormality of the musculoskeletal system	3911	LAMA5	OMIM:620076
HP:0033127	Abnormality of the musculoskeletal system	57477	SHROOM4	ORPHA:85288
HP:0033127	Abnormality of the musculoskeletal system	10195	ALG3	ORPHA:79321
HP:0033127	Abnormality of the musculoskeletal system	392255	GDF6	OMIM:118100
HP:0033127	Abnormality of the musculoskeletal system	85301	COL27A1	OMIM:615155
HP:0033127	Abnormality of the musculoskeletal system	9775	EIF4A3	OMIM:268305
HP:0033127	Abnormality of the musculoskeletal system	27238	GPKOW	ORPHA:2570
HP:0033127	Abnormality of the musculoskeletal system	94005	PIGS	OMIM:618143
HP:0033127	Abnormality of the musculoskeletal system	3295	HSD17B4	OMIM:261515
HP:0033127	Abnormality of the musculoskeletal system	8443	GNPAT	OMIM:222765
HP:0033127	Abnormality of the musculoskeletal system	23405	DICER1	OMIM:601200
HP:0033127	Abnormality of the musculoskeletal system	1029	CDKN2A	ORPHA:524
HP:0033127	Abnormality of the musculoskeletal system	4193	MDM2	ORPHA:524
HP:0033127	Abnormality of the musculoskeletal system	6650	CAPN15	OMIM:619318
HP:0033127	Abnormality of the musculoskeletal system	23133	PHF8	OMIM:300263
HP:0033127	Abnormality of the musculoskeletal system	1723	DHODH	OMIM:263750
HP:0033127	Abnormality of the musculoskeletal system	55191	NADSYN1	OMIM:618845
HP:0033127	Abnormality of the musculoskeletal system	51729	WBP11	OMIM:619227
HP:0033127	Abnormality of the musculoskeletal system	23395	LARS2	OMIM:615300
HP:0033127	Abnormality of the musculoskeletal system	2122	MECOM	ORPHA:71289
HP:0033127	Abnormality of the musculoskeletal system	2122	MECOM	OMIM:616738
HP:0033127	Abnormality of the musculoskeletal system	50945	TBX22	OMIM:302905
HP:0033127	Abnormality of the musculoskeletal system	50945	TBX22	ORPHA:921
HP:0033127	Abnormality of the musculoskeletal system	284086	NEK8	OMIM:615415
HP:0033127	Abnormality of the musculoskeletal system	1499	CTNNB1	ORPHA:873
HP:0033127	Abnormality of the musculoskeletal system	324	APC	ORPHA:873
HP:0033127	Abnormality of the musculoskeletal system	5610	EIF2AK2	ORPHA:256
HP:0033127	Abnormality of the musculoskeletal system	1861	TOR1A	ORPHA:256
HP:0033127	Abnormality of the musculoskeletal system	55164	SHQ1	ORPHA:256
HP:0033127	Abnormality of the musculoskeletal system	3736	KCNA1	OMIM:160120
HP:0033127	Abnormality of the musculoskeletal system	4854	NOTCH3	ORPHA:2591
HP:0033127	Abnormality of the musculoskeletal system	5159	PDGFRB	ORPHA:2591
HP:0033127	Abnormality of the musculoskeletal system	889	KRIT1	OMIM:116860
HP:0033127	Abnormality of the musculoskeletal system	340533	NEXMIF	ORPHA:85277
HP:0033127	Abnormality of the musculoskeletal system	2200	FBN1	ORPHA:2833
HP:0033127	Abnormality of the musculoskeletal system	118429	ANTXR2	ORPHA:2176
HP:0033127	Abnormality of the musculoskeletal system	4683	NBN	ORPHA:647
HP:0033127	Abnormality of the musculoskeletal system	2271	FH	ORPHA:523
HP:0033127	Abnormality of the musculoskeletal system	84876	ORAI1	ORPHA:3204
HP:0033127	Abnormality of the musculoskeletal system	6786	STIM1	ORPHA:3204
HP:0033127	Abnormality of the musculoskeletal system	2303	FOXC2	OMIM:153400
HP:0033127	Abnormality of the musculoskeletal system	203068	TUBB	ORPHA:2505
HP:0033127	Abnormality of the musculoskeletal system	10982	MAPRE2	ORPHA:2505
HP:0033127	Abnormality of the musculoskeletal system	7454	WAS	OMIM:313900
HP:0033127	Abnormality of the musculoskeletal system	4000	LMNA	ORPHA:90153
HP:0033127	Abnormality of the musculoskeletal system	4626	MYH8	ORPHA:3377
HP:0033127	Abnormality of the musculoskeletal system	6785	ELOVL4	ORPHA:1955
HP:0033127	Abnormality of the musculoskeletal system	2201	FBN2	ORPHA:115
HP:0033127	Abnormality of the musculoskeletal system	56244	BTNL2	ORPHA:797
HP:0033127	Abnormality of the musculoskeletal system	3123	HLA-DRB1	ORPHA:797
HP:0033127	Abnormality of the musculoskeletal system	9241	NOG	ORPHA:3250
HP:0033127	Abnormality of the musculoskeletal system	2186	BPTF	ORPHA:529962
HP:0033127	Abnormality of the musculoskeletal system	1576	CYP3A4	OMIM:619073
HP:0033127	Abnormality of the musculoskeletal system	23387	SIK3	OMIM:618162
HP:0033127	Abnormality of the musculoskeletal system	6137	RPL13	OMIM:618728
HP:0033127	Abnormality of the musculoskeletal system	29071	C1GALT1C1	OMIM:301110
HP:0033127	Abnormality of the musculoskeletal system	27152	INTU	OMIM:617925
HP:0033127	Abnormality of the musculoskeletal system	4148	MATN3	ORPHA:156728
HP:0033127	Abnormality of the musculoskeletal system	9939	RBM8A	OMIM:274000
HP:0033127	Abnormality of the musculoskeletal system	54928	BPNT2	OMIM:614078
HP:0033127	Abnormality of the musculoskeletal system	4522	MTHFD1	OMIM:617780
HP:0033127	Abnormality of the musculoskeletal system	4615	MYD88	OMIM:612260
HP:0033127	Abnormality of the musculoskeletal system	51135	IRAK4	OMIM:607676
HP:0033127	Abnormality of the musculoskeletal system	286053	NSMCE2	OMIM:617253
HP:0033127	Abnormality of the musculoskeletal system	2222	FDFT1	OMIM:618156
HP:0033127	Abnormality of the musculoskeletal system	51574	LARP7	ORPHA:319671
HP:0033127	Abnormality of the musculoskeletal system	11113	CIT	ORPHA:2512
HP:0033127	Abnormality of the musculoskeletal system	9928	KIF14	ORPHA:2512
HP:0033127	Abnormality of the musculoskeletal system	284403	WDR62	ORPHA:2512
HP:0033127	Abnormality of the musculoskeletal system	55262	TRAPPC14	ORPHA:2512
HP:0033127	Abnormality of the musculoskeletal system	163786	SASS6	ORPHA:2512
HP:0033127	Abnormality of the musculoskeletal system	84879	MFSD2A	ORPHA:2512
HP:0033127	Abnormality of the musculoskeletal system	4176	MCM7	ORPHA:2512
HP:0033127	Abnormality of the musculoskeletal system	80254	CEP63	ORPHA:2512
HP:0033127	Abnormality of the musculoskeletal system	29081	METTL5	ORPHA:2512
HP:0033127	Abnormality of the musculoskeletal system	79023	NUP37	ORPHA:2512
HP:0033127	Abnormality of the musculoskeletal system	23310	NCAPD3	ORPHA:2512
HP:0033127	Abnormality of the musculoskeletal system	55755	CDK5RAP2	ORPHA:2512
HP:0033127	Abnormality of the musculoskeletal system	79648	MCPH1	ORPHA:2512
HP:0033127	Abnormality of the musculoskeletal system	23141	ANKLE2	ORPHA:2512
HP:0033127	Abnormality of the musculoskeletal system	259266	ASPM	ORPHA:2512
HP:0033127	Abnormality of the musculoskeletal system	7109	TRAPPC10	ORPHA:2512
HP:0033127	Abnormality of the musculoskeletal system	7453	WARS1	ORPHA:2512
HP:0033127	Abnormality of the musculoskeletal system	1911	PHC1	ORPHA:2512
HP:0033127	Abnormality of the musculoskeletal system	9662	CEP135	ORPHA:2512
HP:0033127	Abnormality of the musculoskeletal system	57082	KNL1	ORPHA:2512
HP:0033127	Abnormality of the musculoskeletal system	1021	CDK6	ORPHA:2512
HP:0033127	Abnormality of the musculoskeletal system	50964	SOST	ORPHA:3152
HP:0033127	Abnormality of the musculoskeletal system	50964	SOST	ORPHA:3416
HP:0033127	Abnormality of the musculoskeletal system	60561	RINT1	OMIM:618641
HP:0033127	Abnormality of the musculoskeletal system	1497	CTNS	OMIM:219800
HP:0033127	Abnormality of the musculoskeletal system	8106	PABPN1	ORPHA:270
HP:0033127	Abnormality of the musculoskeletal system	80308	FLAD1	OMIM:255100
HP:0033127	Abnormality of the musculoskeletal system	57222	ERGIC1	OMIM:208100
HP:0033127	Abnormality of the musculoskeletal system	4519	MT-CYB	OMIM:540000
HP:0033127	Abnormality of the musculoskeletal system	4519	MT-CYB	ORPHA:104
HP:0033127	Abnormality of the musculoskeletal system	4519	MT-CYB	OMIM:535000
HP:0033127	Abnormality of the musculoskeletal system	4511	MT-TC	OMIM:540000
HP:0033127	Abnormality of the musculoskeletal system	92579	G6PC3	OMIM:612541
HP:0033127	Abnormality of the musculoskeletal system	5468	PPARG	ORPHA:79083
HP:0033127	Abnormality of the musculoskeletal system	84823	LMNB2	ORPHA:79087
HP:0033127	Abnormality of the musculoskeletal system	7072	TIA1	ORPHA:603
HP:0033127	Abnormality of the musculoskeletal system	4620	MYH2	OMIM:605637
HP:0033127	Abnormality of the musculoskeletal system	5224	PGAM2	OMIM:261670
HP:0033127	Abnormality of the musculoskeletal system	7498	XDH	OMIM:278300
HP:0033127	Abnormality of the musculoskeletal system	4576	MT-TT	OMIM:551000
HP:0033127	Abnormality of the musculoskeletal system	5590	PRKCZ	ORPHA:1606
HP:0033127	Abnormality of the musculoskeletal system	2563	GABRD	ORPHA:1606
HP:0033127	Abnormality of the musculoskeletal system	23013	SPEN	ORPHA:1606
HP:0033127	Abnormality of the musculoskeletal system	8510	MMP23B	ORPHA:1606
HP:0033127	Abnormality of the musculoskeletal system	7798	LUZP1	ORPHA:1606
HP:0033127	Abnormality of the musculoskeletal system	6497	SKI	ORPHA:1606
HP:0033127	Abnormality of the musculoskeletal system	10630	PDPN	ORPHA:1606
HP:0033127	Abnormality of the musculoskeletal system	10277	UBE4B	ORPHA:1606
HP:0033127	Abnormality of the musculoskeletal system	8514	KCNAB2	ORPHA:1606
HP:0033127	Abnormality of the musculoskeletal system	473	RERE	ORPHA:1606
HP:0033127	Abnormality of the musculoskeletal system	54897	CASZ1	ORPHA:1606
HP:0033127	Abnormality of the musculoskeletal system	493856	CISD2	ORPHA:3463
HP:0033127	Abnormality of the musculoskeletal system	7466	WFS1	ORPHA:3463
HP:0033127	Abnormality of the musculoskeletal system	4539	MT-ND4L	ORPHA:104
HP:0033127	Abnormality of the musculoskeletal system	4539	MT-ND4L	OMIM:535000
HP:0033127	Abnormality of the musculoskeletal system	92667	MGME1	ORPHA:352447
HP:0033127	Abnormality of the musculoskeletal system	8905	AP1S2	ORPHA:85329
HP:0033127	Abnormality of the musculoskeletal system	6392	SDHD	ORPHA:100093
HP:0033127	Abnormality of the musculoskeletal system	2729	GCLC	ORPHA:33574
HP:0033127	Abnormality of the musculoskeletal system	2729	GCLC	OMIM:230450
HP:0033127	Abnormality of the musculoskeletal system	51128	SAR1B	ORPHA:71
HP:0033127	Abnormality of the musculoskeletal system	51244	CCDC174	OMIM:616816
HP:0033127	Abnormality of the musculoskeletal system	57104	PNPLA2	OMIM:610717
HP:0033127	Abnormality of the musculoskeletal system	57104	PNPLA2	ORPHA:98908
HP:0033127	Abnormality of the musculoskeletal system	57724	EPG5	OMIM:242840
HP:0033127	Abnormality of the musculoskeletal system	6843	VAMP1	OMIM:618323
HP:0033127	Abnormality of the musculoskeletal system	6443	SGCB	ORPHA:119
HP:0033127	Abnormality of the musculoskeletal system	389827	MYMK	OMIM:254940
HP:0033127	Abnormality of the musculoskeletal system	389827	MYMK	ORPHA:1358
HP:0033127	Abnormality of the musculoskeletal system	5979	RET	OMIM:162300
HP:0033127	Abnormality of the musculoskeletal system	51422	PRKAG2	OMIM:261740
HP:0033127	Abnormality of the musculoskeletal system	5250	SLC25A3	ORPHA:91130
HP:0033127	Abnormality of the musculoskeletal system	26007	TKFC	ORPHA:1369
HP:0033127	Abnormality of the musculoskeletal system	26580	BSCL2	ORPHA:363400
HP:0033127	Abnormality of the musculoskeletal system	4976	OPA1	OMIM:125250
HP:0033127	Abnormality of the musculoskeletal system	4976	OPA1	ORPHA:98673
HP:0033127	Abnormality of the musculoskeletal system	4976	OPA1	ORPHA:1215
HP:0033127	Abnormality of the musculoskeletal system	2710	GK	OMIM:307030
HP:0033127	Abnormality of the musculoskeletal system	10059	DNM1L	ORPHA:98673
HP:0033127	Abnormality of the musculoskeletal system	122622	ADSS1	OMIM:617030
HP:0033127	Abnormality of the musculoskeletal system	825	CAPN3	OMIM:618129
HP:0033127	Abnormality of the musculoskeletal system	708	C1QBP	OMIM:617713
HP:0033127	Abnormality of the musculoskeletal system	1063	CENPF	OMIM:243605
HP:0033127	Abnormality of the musculoskeletal system	4547	MTTP	ORPHA:14
HP:0033127	Abnormality of the musculoskeletal system	4507	MTAP	OMIM:112250
HP:0033127	Abnormality of the musculoskeletal system	2683	B4GALT1	OMIM:607091
HP:0033127	Abnormality of the musculoskeletal system	7138	TNNT1	OMIM:605355
HP:0033127	Abnormality of the musculoskeletal system	79784	MYH14	ORPHA:397744
HP:0033127	Abnormality of the musculoskeletal system	35	ACADS	OMIM:201470
HP:0033127	Abnormality of the musculoskeletal system	35	ACADS	ORPHA:26792
HP:0033127	Abnormality of the musculoskeletal system	31	ACACA	OMIM:613933
HP:0033127	Abnormality of the musculoskeletal system	26137	ZBTB20	ORPHA:3042
HP:0033127	Abnormality of the musculoskeletal system	84700	MYO18B	OMIM:616549
HP:0033127	Abnormality of the musculoskeletal system	55005	RMND1	OMIM:614922
HP:0033127	Abnormality of the musculoskeletal system	64221	ROBO3	ORPHA:2744
HP:0033127	Abnormality of the musculoskeletal system	4654	MYOD1	OMIM:618975
HP:0033127	Abnormality of the musculoskeletal system	9987	HNRNPDL	OMIM:609115
HP:0033127	Abnormality of the musculoskeletal system	6611	SMS	ORPHA:3063
HP:0033127	Abnormality of the musculoskeletal system	6611	SMS	OMIM:309583
HP:0033127	Abnormality of the musculoskeletal system	63895	PIEZO2	OMIM:114300
HP:0033127	Abnormality of the musculoskeletal system	63895	PIEZO2	OMIM:108145
HP:0033127	Abnormality of the musculoskeletal system	63895	PIEZO2	ORPHA:376
HP:0033127	Abnormality of the musculoskeletal system	63895	PIEZO2	OMIM:248700
HP:0033127	Abnormality of the musculoskeletal system	9853	RUSC2	OMIM:617773
HP:0033127	Abnormality of the musculoskeletal system	22931	RAB18	OMIM:614222
HP:0033127	Abnormality of the musculoskeletal system	4010	LMX1B	ORPHA:2614
HP:0033127	Abnormality of the musculoskeletal system	92335	STRADA	ORPHA:500533
HP:0033127	Abnormality of the musculoskeletal system	81839	VANGL1	ORPHA:3027
HP:0033127	Abnormality of the musculoskeletal system	80199	FUZ	ORPHA:3027
HP:0033127	Abnormality of the musculoskeletal system	100033413	SNORD116-1	OMIM:176270
HP:0033127	Abnormality of the musculoskeletal system	8924	HERC2	OMIM:176270
HP:0033127	Abnormality of the musculoskeletal system	23742	NPAP1	OMIM:176270
HP:0033127	Abnormality of the musculoskeletal system	338433	SNORD115-1	OMIM:176270
HP:0033127	Abnormality of the musculoskeletal system	7681	MKRN3	OMIM:176270
HP:0033127	Abnormality of the musculoskeletal system	145624	PWAR1	OMIM:176270
HP:0033127	Abnormality of the musculoskeletal system	3653	IPW	OMIM:176270
HP:0033127	Abnormality of the musculoskeletal system	791114	PWRN1	OMIM:176270
HP:0033127	Abnormality of the musculoskeletal system	2887	GRB10	ORPHA:96182
HP:0033127	Abnormality of the musculoskeletal system	23431	AP4E1	OMIM:613744
HP:0033127	Abnormality of the musculoskeletal system	2488	FSHB	OMIM:229070
HP:0033127	Abnormality of the musculoskeletal system	3980	LIG3	ORPHA:298
HP:0033127	Abnormality of the musculoskeletal system	23545	ATP6V0A2	ORPHA:357074
HP:0033127	Abnormality of the musculoskeletal system	23545	ATP6V0A2	ORPHA:2834
HP:0033127	Abnormality of the musculoskeletal system	10479	SLC9A6	ORPHA:85278
HP:0033127	Abnormality of the musculoskeletal system	2193	FARSA	OMIM:619013
HP:0033127	Abnormality of the musculoskeletal system	2538	G6PC1	OMIM:232200
HP:0033127	Abnormality of the musculoskeletal system	9427	ECEL1	OMIM:615065
HP:0033127	Abnormality of the musculoskeletal system	128637	TBC1D20	OMIM:615663
HP:0033127	Abnormality of the musculoskeletal system	53834	FGFRL1	OMIM:194190
HP:0033127	Abnormality of the musculoskeletal system	27089	UQCRQ	OMIM:615159
HP:0033127	Abnormality of the musculoskeletal system	81034	SLC25A32	OMIM:616839
HP:0033127	Abnormality of the musculoskeletal system	23600	AMACR	ORPHA:79095
HP:0033127	Abnormality of the musculoskeletal system	8802	SUCLG1	ORPHA:17
HP:0033127	Abnormality of the musculoskeletal system	51693	TRAPPC2L	OMIM:618331
HP:0033127	Abnormality of the musculoskeletal system	90523	MLIP	OMIM:620138
HP:0033127	Abnormality of the musculoskeletal system	284439	SLC25A42	OMIM:618416
HP:0033127	Abnormality of the musculoskeletal system	26235	FBXL4	OMIM:615471
HP:0033127	Abnormality of the musculoskeletal system	104	ADARB1	OMIM:618862
HP:0033127	Abnormality of the musculoskeletal system	83932	SPRTN	OMIM:616200
HP:0033127	Abnormality of the musculoskeletal system	6834	SURF1	OMIM:616684
HP:0033127	Abnormality of the musculoskeletal system	22947	DUX4L1	ORPHA:269
HP:0033127	Abnormality of the musculoskeletal system	1789	DNMT3B	ORPHA:269
HP:0033127	Abnormality of the musculoskeletal system	2483	FRG1	ORPHA:269
HP:0033127	Abnormality of the musculoskeletal system	2483	FRG1	OMIM:158900
HP:0033127	Abnormality of the musculoskeletal system	23347	SMCHD1	ORPHA:269
HP:0033127	Abnormality of the musculoskeletal system	100288687	DUX4	ORPHA:269
HP:0033127	Abnormality of the musculoskeletal system	347733	TUBB2B	ORPHA:1766
HP:0033127	Abnormality of the musculoskeletal system	7436	VLDLR	ORPHA:1766
HP:0033127	Abnormality of the musculoskeletal system	124997	WDR81	ORPHA:1766
HP:0033127	Abnormality of the musculoskeletal system	51761	ATP8A2	ORPHA:1766
HP:0033127	Abnormality of the musculoskeletal system	767	CA8	ORPHA:1766
HP:0033127	Abnormality of the musculoskeletal system	1729	DIAPH1	ORPHA:477814
HP:0033127	Abnormality of the musculoskeletal system	6445	SGCG	OMIM:253700
HP:0033127	Abnormality of the musculoskeletal system	55526	DHTKD1	OMIM:615025
HP:0033127	Abnormality of the musculoskeletal system	55361	PI4K2A	OMIM:620732
HP:0033127	Abnormality of the musculoskeletal system	57167	SALL4	ORPHA:233
HP:0033127	Abnormality of the musculoskeletal system	1123	CHN1	ORPHA:233
HP:0033127	Abnormality of the musculoskeletal system	92482	BBIP1	ORPHA:110
HP:0033127	Abnormality of the musculoskeletal system	80184	CEP290	ORPHA:110
HP:0033127	Abnormality of the musculoskeletal system	11020	IFT27	ORPHA:110
HP:0033127	Abnormality of the musculoskeletal system	582	BBS1	ORPHA:110
HP:0033127	Abnormality of the musculoskeletal system	49855	SCAPER	ORPHA:110
HP:0033127	Abnormality of the musculoskeletal system	4867	NPHP1	ORPHA:110
HP:0033127	Abnormality of the musculoskeletal system	51057	WDPCP	ORPHA:110
HP:0033127	Abnormality of the musculoskeletal system	132320	SCLT1	ORPHA:110
HP:0033127	Abnormality of the musculoskeletal system	27241	BBS9	ORPHA:110
HP:0033127	Abnormality of the musculoskeletal system	84984	CEP19	ORPHA:110
HP:0033127	Abnormality of the musculoskeletal system	54903	MKS1	ORPHA:110
HP:0033127	Abnormality of the musculoskeletal system	79738	BBS10	ORPHA:110
HP:0033127	Abnormality of the musculoskeletal system	123016	TTC8	ORPHA:110
HP:0033127	Abnormality of the musculoskeletal system	583	BBS2	ORPHA:110
HP:0033127	Abnormality of the musculoskeletal system	585	BBS4	ORPHA:110
HP:0033127	Abnormality of the musculoskeletal system	8195	MKKS	ORPHA:110
HP:0033127	Abnormality of the musculoskeletal system	54585	LZTFL1	ORPHA:110
HP:0033127	Abnormality of the musculoskeletal system	55212	BBS7	ORPHA:110
HP:0033127	Abnormality of the musculoskeletal system	166379	BBS12	ORPHA:110
HP:0033127	Abnormality of the musculoskeletal system	10806	SDCCAG8	ORPHA:110
HP:0033127	Abnormality of the musculoskeletal system	157657	CFAP418	ORPHA:110
HP:0033127	Abnormality of the musculoskeletal system	84100	ARL6	ORPHA:110
HP:0033127	Abnormality of the musculoskeletal system	129880	BBS5	ORPHA:110
HP:0033127	Abnormality of the musculoskeletal system	80173	IFT74	ORPHA:110
HP:0033127	Abnormality of the musculoskeletal system	55773	TBC1D23	OMIM:617695
HP:0033127	Abnormality of the musculoskeletal system	8363	H4C11	OMIM:619759
HP:0033127	Abnormality of the musculoskeletal system	93986	FOXP2	ORPHA:251061
HP:0033127	Abnormality of the musculoskeletal system	6305	SBF1	OMIM:615284
HP:0033127	Abnormality of the musculoskeletal system	4076	CAPRIN1	OMIM:620636
HP:0033127	Abnormality of the musculoskeletal system	55072	RNF31	OMIM:620632
HP:0033127	Abnormality of the musculoskeletal system	56983	POGLUT1	OMIM:617232
HP:0033127	Abnormality of the musculoskeletal system	84295	PHF6	ORPHA:127
HP:0033127	Abnormality of the musculoskeletal system	85300	ATCAY	OMIM:601238
HP:0033127	Abnormality of the musculoskeletal system	6709	SPTAN1	OMIM:620538
HP:0033127	Abnormality of the musculoskeletal system	8803	SUCLA2	ORPHA:1933
HP:0033127	Abnormality of the musculoskeletal system	8803	SUCLA2	OMIM:612073
HP:0033127	Abnormality of the musculoskeletal system	27235	COQ2	OMIM:146500
HP:0033127	Abnormality of the musculoskeletal system	4967	OGDH	ORPHA:31
HP:0033127	Abnormality of the musculoskeletal system	3714	JAG2	OMIM:619566
HP:0033127	Abnormality of the musculoskeletal system	6263	RYR3	OMIM:620310
HP:0033127	Abnormality of the musculoskeletal system	5980	REV3L	ORPHA:570
HP:0033127	Abnormality of the musculoskeletal system	23129	PLXND1	ORPHA:570
HP:0033127	Abnormality of the musculoskeletal system	55967	NDUFA12	OMIM:618244
HP:0033127	Abnormality of the musculoskeletal system	3643	INSR	OMIM:246200
HP:0033127	Abnormality of the musculoskeletal system	3643	INSR	ORPHA:508
HP:0033127	Abnormality of the musculoskeletal system	4141	MARS1	OMIM:620323
HP:0033127	Abnormality of the musculoskeletal system	8091	HMGA2	ORPHA:94063
HP:0033127	Abnormality of the musculoskeletal system	4714	NDUFB8	OMIM:618252
HP:0033127	Abnormality of the musculoskeletal system	9049	AIP	OMIM:219090
HP:0033127	Abnormality of the musculoskeletal system	8425	LTBP4	ORPHA:98896
HP:0033127	Abnormality of the musculoskeletal system	4927	NUP88	OMIM:618393
HP:0033127	Abnormality of the musculoskeletal system	4604	MYBPC1	OMIM:614915
HP:0033127	Abnormality of the musculoskeletal system	1493	CTLA4	ORPHA:3162
HP:0033127	Abnormality of the musculoskeletal system	940	CD28	ORPHA:3162
HP:0033127	Abnormality of the musculoskeletal system	7133	TNFRSF1B	ORPHA:3162
HP:0033127	Abnormality of the musculoskeletal system	23299	BICD2	OMIM:618291
HP:0033127	Abnormality of the musculoskeletal system	5965	RECQL	OMIM:620370
HP:0033127	Abnormality of the musculoskeletal system	65055	REEP1	OMIM:620011
HP:0033127	Abnormality of the musculoskeletal system	65055	REEP1	OMIM:610250
HP:0033127	Abnormality of the musculoskeletal system	50846	DHH	ORPHA:168563
HP:0033127	Abnormality of the musculoskeletal system	4702	NDUFA8	OMIM:619272
HP:0033127	Abnormality of the musculoskeletal system	158	ADSL	OMIM:103050
HP:0033127	Abnormality of the musculoskeletal system	80055	PGAP1	OMIM:615802
HP:0033127	Abnormality of the musculoskeletal system	6335	SCN9A	ORPHA:970
HP:0033127	Abnormality of the musculoskeletal system	65125	WNK1	ORPHA:970
HP:0033127	Abnormality of the musculoskeletal system	547	KIF1A	ORPHA:970
HP:0033127	Abnormality of the musculoskeletal system	966	CD59	OMIM:612300
HP:0033127	Abnormality of the musculoskeletal system	340061	STING1	OMIM:615934
HP:0033127	Abnormality of the musculoskeletal system	64087	MCCC2	OMIM:210210
HP:0033127	Abnormality of the musculoskeletal system	4151	MB	OMIM:620286
HP:0033127	Abnormality of the musculoskeletal system	823	CAPN1	OMIM:616907
HP:0033127	Abnormality of the musculoskeletal system	823	CAPN1	ORPHA:488594
HP:0033127	Abnormality of the musculoskeletal system	56984	PSMG2	OMIM:619183
HP:0033127	Abnormality of the musculoskeletal system	84342	COG8	ORPHA:95428
HP:0033127	Abnormality of the musculoskeletal system	11284	PNKP	OMIM:613402
HP:0033127	Abnormality of the musculoskeletal system	10613	ERLIN1	ORPHA:401785
HP:0033127	Abnormality of the musculoskeletal system	10613	ERLIN1	OMIM:615681
HP:0033127	Abnormality of the musculoskeletal system	11149	POPDC1	OMIM:616812
HP:0033127	Abnormality of the musculoskeletal system	23396	PIP5K1C	OMIM:611369
HP:0033127	Abnormality of the musculoskeletal system	2065	ERBB3	OMIM:607598
HP:0033127	Abnormality of the musculoskeletal system	6390	SDHB	ORPHA:3208
HP:0033127	Abnormality of the musculoskeletal system	644096	SDHAF1	ORPHA:3208
HP:0033127	Abnormality of the musculoskeletal system	55681	SCYL2	ORPHA:1143
HP:0033127	Abnormality of the musculoskeletal system	84570	COL25A1	ORPHA:1143
HP:0033127	Abnormality of the musculoskeletal system	84317	CCDC115	OMIM:616828
HP:0033127	Abnormality of the musculoskeletal system	6567	SLC16A2	ORPHA:59
HP:0033127	Abnormality of the musculoskeletal system	57716	PRX	OMIM:614895
HP:0033127	Abnormality of the musculoskeletal system	57410	SCYL1	OMIM:616719
HP:0033127	Abnormality of the musculoskeletal system	10075	HUWE1	OMIM:309590
HP:0033127	Abnormality of the musculoskeletal system	91949	COG7	OMIM:608779
HP:0033127	Abnormality of the musculoskeletal system	123606	NIPA1	ORPHA:100988
HP:0033127	Abnormality of the musculoskeletal system	113235	SLC46A1	ORPHA:90045
HP:0033127	Abnormality of the musculoskeletal system	271	AMPD2	ORPHA:401805
HP:0033127	Abnormality of the musculoskeletal system	271	AMPD2	OMIM:615686
HP:0033127	Abnormality of the musculoskeletal system	23064	SETX	ORPHA:357043
HP:0033127	Abnormality of the musculoskeletal system	953	ENTPD1	OMIM:615683
HP:0033127	Abnormality of the musculoskeletal system	5296	PIK3R2	OMIM:603387
HP:0033127	Abnormality of the musculoskeletal system	119559	SFXN4	OMIM:615578
HP:0033127	Abnormality of the musculoskeletal system	5430	POLR2A	OMIM:618603
HP:0033127	Abnormality of the musculoskeletal system	22978	NT5C2	OMIM:613162
HP:0033127	Abnormality of the musculoskeletal system	16	AARS1	OMIM:613287
HP:0033127	Abnormality of the musculoskeletal system	55131	RBM28	OMIM:612079
HP:0033127	Abnormality of the musculoskeletal system	7140	TNNT3	ORPHA:1147
HP:0033127	Abnormality of the musculoskeletal system	7140	TNNT3	ORPHA:1146
HP:0033127	Abnormality of the musculoskeletal system	7136	TNNI2	ORPHA:1147
HP:0033127	Abnormality of the musculoskeletal system	7136	TNNI2	ORPHA:1146
HP:0033127	Abnormality of the musculoskeletal system	5184	PEPD	ORPHA:742
HP:0033127	Abnormality of the musculoskeletal system	9907	AP5Z1	ORPHA:306511
HP:0033127	Abnormality of the musculoskeletal system	9453	GGPS1	OMIM:619518
HP:0033127	Abnormality of the musculoskeletal system	125170	MIEF2	OMIM:619024
HP:0033127	Abnormality of the musculoskeletal system	3064	HTT	ORPHA:399
HP:0033127	Abnormality of the musculoskeletal system	6515	SLC2A3	ORPHA:399
HP:0033127	Abnormality of the musculoskeletal system	5903	RANBP2	ORPHA:88619
HP:0033127	Abnormality of the musculoskeletal system	25953	PNKD	ORPHA:98810
HP:0033127	Abnormality of the musculoskeletal system	7528	YY1	ORPHA:97279
HP:0033127	Abnormality of the musculoskeletal system	200205	IBA57	OMIM:615330
HP:0033127	Abnormality of the musculoskeletal system	146862	UNC45B	OMIM:619178
HP:0033127	Abnormality of the musculoskeletal system	24142	NAA80	OMIM:620830
HP:0033127	Abnormality of the musculoskeletal system	3156	HMGCR	OMIM:620375
HP:0033127	Abnormality of the musculoskeletal system	10661	KLF1	ORPHA:46532
HP:0033127	Abnormality of the musculoskeletal system	3047	HBG1	ORPHA:46532
HP:0033127	Abnormality of the musculoskeletal system	3048	HBG2	ORPHA:46532
HP:0033127	Abnormality of the musculoskeletal system	10126	DNAL4	ORPHA:238722
HP:0033127	Abnormality of the musculoskeletal system	9423	NTN1	ORPHA:238722
HP:0033127	Abnormality of the musculoskeletal system	811	CALR	ORPHA:824
HP:0033127	Abnormality of the musculoskeletal system	4352	MPL	ORPHA:824
HP:0033127	Abnormality of the musculoskeletal system	3717	JAK2	ORPHA:824
HP:0033127	Abnormality of the musculoskeletal system	50515	CHST11	OMIM:618167
HP:0033127	Abnormality of the musculoskeletal system	51567	TDP2	OMIM:616949
HP:0033127	Abnormality of the musculoskeletal system	2673	GFPT1	OMIM:608931
HP:0033127	Abnormality of the musculoskeletal system	2673	GFPT1	ORPHA:353327
HP:0033127	Abnormality of the musculoskeletal system	2673	GFPT1	OMIM:610542
HP:0033127	Abnormality of the musculoskeletal system	4287	ATXN3	OMIM:109150
HP:0033127	Abnormality of the musculoskeletal system	4287	ATXN3	ORPHA:276238
HP:0033127	Abnormality of the musculoskeletal system	4287	ATXN3	ORPHA:276244
HP:0033127	Abnormality of the musculoskeletal system	4287	ATXN3	ORPHA:276241
HP:0033127	Abnormality of the musculoskeletal system	9897	WASHC5	ORPHA:100989
HP:0033127	Abnormality of the musculoskeletal system	80207	OPA3	ORPHA:67036
HP:0033127	Abnormality of the musculoskeletal system	54517	PUS7	OMIM:618342
HP:0033127	Abnormality of the musculoskeletal system	22880	MORC2	OMIM:616688
HP:0033127	Abnormality of the musculoskeletal system	22880	MORC2	ORPHA:466768
HP:0033127	Abnormality of the musculoskeletal system	60684	TRAPPC11	OMIM:615356
HP:0033127	Abnormality of the musculoskeletal system	60684	TRAPPC11	ORPHA:369840
HP:0033127	Abnormality of the musculoskeletal system	3703	STT3A	OMIM:619714
HP:0033127	Abnormality of the musculoskeletal system	55733	HHAT	OMIM:600092
HP:0033127	Abnormality of the musculoskeletal system	3315	HSPB1	OMIM:606595
HP:0033127	Abnormality of the musculoskeletal system	3939	LDHA	OMIM:612933
HP:0033127	Abnormality of the musculoskeletal system	1586	CYP17A1	ORPHA:90793
HP:0033127	Abnormality of the musculoskeletal system	1798	DPAGT1	ORPHA:353327
HP:0033127	Abnormality of the musculoskeletal system	85365	ALG2	ORPHA:353327
HP:0033127	Abnormality of the musculoskeletal system	199857	ALG14	ORPHA:353327
HP:0033127	Abnormality of the musculoskeletal system	1738	DLD	ORPHA:2394
HP:0033127	Abnormality of the musculoskeletal system	1716	DGUOK	ORPHA:329314
HP:0033127	Abnormality of the musculoskeletal system	23317	DNAJC13	ORPHA:411602
HP:0033127	Abnormality of the musculoskeletal system	1981	EIF4G1	ORPHA:411602
HP:0033127	Abnormality of the musculoskeletal system	55737	VPS35	ORPHA:411602
HP:0033127	Abnormality of the musculoskeletal system	26058	GIGYF2	ORPHA:411602
HP:0033127	Abnormality of the musculoskeletal system	146206	CARMIL2	OMIM:618131
HP:0033127	Abnormality of the musculoskeletal system	10058	ABCB6	OMIM:609153
HP:0033127	Abnormality of the musculoskeletal system	5260	PHKG1	ORPHA:715
HP:0033127	Abnormality of the musculoskeletal system	10367	MICU1	OMIM:615673
HP:0033127	Abnormality of the musculoskeletal system	57863	CADM3	OMIM:619519
HP:0033127	Abnormality of the musculoskeletal system	8659	ALDH4A1	ORPHA:79101
HP:0033127	Abnormality of the musculoskeletal system	6607	SMN2	OMIM:253400
HP:0033127	Abnormality of the musculoskeletal system	476	ATP1A1	OMIM:618036
HP:0033127	Abnormality of the musculoskeletal system	6311	ATXN2	ORPHA:98756
HP:0033127	Abnormality of the musculoskeletal system	6311	ATXN2	ORPHA:803
HP:0033127	Abnormality of the musculoskeletal system	272	AMPD3	ORPHA:45
HP:0033127	Abnormality of the musculoskeletal system	34	ACADM	ORPHA:42
HP:0033127	Abnormality of the musculoskeletal system	2717	GLA	OMIM:301500
HP:0033127	Abnormality of the musculoskeletal system	859	CAV3	OMIM:123320
HP:0033127	Abnormality of the musculoskeletal system	81545	FBXO38	OMIM:615575
HP:0033127	Abnormality of the musculoskeletal system	25978	CHMP2B	ORPHA:803
HP:0033127	Abnormality of the musculoskeletal system	8148	TAF15	ORPHA:803
HP:0033127	Abnormality of the musculoskeletal system	5445	PON2	ORPHA:803
HP:0033127	Abnormality of the musculoskeletal system	55830	GLT8D1	ORPHA:803
HP:0033127	Abnormality of the musculoskeletal system	755	CFAP410	ORPHA:803
HP:0033127	Abnormality of the musculoskeletal system	10891	PPARGC1A	ORPHA:803
HP:0033127	Abnormality of the musculoskeletal system	9896	FIG4	ORPHA:803
HP:0033127	Abnormality of the musculoskeletal system	5444	PON1	ORPHA:803
HP:0033127	Abnormality of the musculoskeletal system	5446	PON3	ORPHA:803
HP:0033127	Abnormality of the musculoskeletal system	9782	MATR3	ORPHA:803
HP:0033127	Abnormality of the musculoskeletal system	283	ANG	ORPHA:803
HP:0033127	Abnormality of the musculoskeletal system	29978	UBQLN2	ORPHA:803
HP:0033127	Abnormality of the musculoskeletal system	2733	GLE1	ORPHA:803
HP:0033127	Abnormality of the musculoskeletal system	4750	NEK1	ORPHA:803
HP:0033127	Abnormality of the musculoskeletal system	1610	DAO	ORPHA:803
HP:0033127	Abnormality of the musculoskeletal system	2066	ERBB4	ORPHA:803
HP:0033127	Abnormality of the musculoskeletal system	311	ANXA11	ORPHA:803
HP:0033127	Abnormality of the musculoskeletal system	23025	UNC13A	ORPHA:803
HP:0033127	Abnormality of the musculoskeletal system	6253	RTN2	ORPHA:100993
HP:0033127	Abnormality of the musculoskeletal system	51271	UBAP1	ORPHA:100993
HP:0033127	Abnormality of the musculoskeletal system	3839	KPNA3	ORPHA:171612
HP:0033127	Abnormality of the musculoskeletal system	84842	HPDL	OMIM:619027
HP:0033127	Abnormality of the musculoskeletal system	5256	PHKA2	ORPHA:264580
HP:0033127	Abnormality of the musculoskeletal system	5261	PHKG2	ORPHA:264580
HP:0033127	Abnormality of the musculoskeletal system	79628	SH3TC2	ORPHA:99949
HP:0033127	Abnormality of the musculoskeletal system	367	AR	OMIM:313200
HP:0033127	Abnormality of the musculoskeletal system	8729	GBF1	OMIM:606483
HP:0033127	Abnormality of the musculoskeletal system	5589	PRKCSH	OMIM:174050
HP:0033127	Abnormality of the musculoskeletal system	5589	PRKCSH	ORPHA:2924
HP:0033127	Abnormality of the musculoskeletal system	56606	SLC2A9	ORPHA:94088
HP:0033127	Abnormality of the musculoskeletal system	116085	SLC22A12	ORPHA:94088
HP:0033127	Abnormality of the musculoskeletal system	3075	CFH	ORPHA:244242
HP:0033127	Abnormality of the musculoskeletal system	4179	CD46	ORPHA:244242
HP:0033127	Abnormality of the musculoskeletal system	101101692	HELLPAR	ORPHA:244242
HP:0033127	Abnormality of the musculoskeletal system	11231	SEC63	ORPHA:2924
HP:0033127	Abnormality of the musculoskeletal system	285282	RABL3	ORPHA:1333
HP:0033127	Abnormality of the musculoskeletal system	23022	PALLD	ORPHA:1333
HP:0033127	Abnormality of the musculoskeletal system	9096	TBX18	OMIM:143400
HP:0033127	Abnormality of the musculoskeletal system	4665	NAB2	ORPHA:2126
HP:0033127	Abnormality of the musculoskeletal system	6778	STAT6	ORPHA:2126
HP:0033127	Abnormality of the musculoskeletal system	1200	TPP1	ORPHA:284324
HP:0033127	Abnormality of the musculoskeletal system	8988	HSPB3	OMIM:613376
HP:0033127	Abnormality of the musculoskeletal system	4549	MT-RNR1	ORPHA:551
HP:0033127	Abnormality of the musculoskeletal system	10486	CAP2	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	7716	VEZF1	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	7168	TPM1	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	27063	ANKRD1	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	1410	CRYAB	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	439	GET3	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	5350	PLN	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	5664	PSEN2	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	9529	BAG5	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	4607	MYBPC3	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	11155	LDB3	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	2274	FHL2	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	1674	DES	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	442721	LMOD2	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	57158	JPH2	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	9015	TAF1A	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	5663	PSEN1	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	7112	TMPO	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	9464	HAND2	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	7414	VCL	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	70	ACTC1	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	6123	RPL3L	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	8048	CSRP3	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	7139	TNNT2	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	1829	DSG2	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	3910	LAMA4	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	63976	PRDM16	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	10587	TXNRD2	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	9531	BAG3	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	91624	NEXN	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	79717	PPCS	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	4624	MYH6	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	282996	RBM20	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	7137	TNNI3	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	6901	TAFAZZIN	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	22845	DOLK	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	57798	GATAD1	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	7134	TNNC1	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	6444	SGCD	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	6331	SCN5A	ORPHA:154
HP:0033127	Abnormality of the musculoskeletal system	3912	LAMB1	ORPHA:352682
HP:0033127	Abnormality of the musculoskeletal system	9935	MAFB	ORPHA:2774
HP:0033127	Abnormality of the musculoskeletal system	4568	MT-TL2	ORPHA:663
HP:0033127	Abnormality of the musculoskeletal system	4570	MT-TN	ORPHA:663
HP:0033127	Abnormality of the musculoskeletal system	112	ADCY6	ORPHA:2680
HP:0033127	Abnormality of the musculoskeletal system	163175	LGI4	ORPHA:2680
HP:0033127	Abnormality of the musculoskeletal system	8506	CNTNAP1	ORPHA:2680
HP:0033127	Abnormality of the musculoskeletal system	6566	SLC16A1	OMIM:245340
HP:0033127	Abnormality of the musculoskeletal system	56997	COQ8A	ORPHA:139485
HP:0033127	Abnormality of the musculoskeletal system	22954	TRIM32	ORPHA:1878
HP:0033127	Abnormality of the musculoskeletal system	55129	ANO10	ORPHA:284289
HP:0033127	Abnormality of the musculoskeletal system	4942	OAT	OMIM:258870
HP:0033127	Abnormality of the musculoskeletal system	51663	ZFR	ORPHA:401840
HP:0033127	Abnormality of the musculoskeletal system	126129	CPT1C	ORPHA:444099
HP:0033127	Abnormality of the musculoskeletal system	54332	GDAP1	ORPHA:99948
HP:0033127	Abnormality of the musculoskeletal system	4618	MYF6	ORPHA:169189
HP:0033127	Abnormality of the musculoskeletal system	285175	UNC80	ORPHA:371364
HP:0033127	Abnormality of the musculoskeletal system	55958	KLHL9	ORPHA:399081
HP:0033127	Abnormality of the musculoskeletal system	6862	TBXT	OMIM:615709
HP:0033127	Abnormality of the musculoskeletal system	5165	PDK3	ORPHA:352675
HP:0033127	Abnormality of the musculoskeletal system	153642	ARSK	OMIM:619698
HP:0033127	Abnormality of the musculoskeletal system	83452	RAB33B	OMIM:615222
HP:0033127	Abnormality of the musculoskeletal system	6911	TBX6	OMIM:122600
HP:0033127	Abnormality of the musculoskeletal system	168667	BMPER	OMIM:608022
HP:0033127	Abnormality of the musculoskeletal system	29925	GMPPB	ORPHA:370968
HP:0033127	Abnormality of the musculoskeletal system	79147	FKRP	ORPHA:370968
HP:0033127	Abnormality of the musculoskeletal system	29954	POMT2	ORPHA:370968
HP:0033127	Abnormality of the musculoskeletal system	9215	LARGE1	ORPHA:370968
HP:0033127	Abnormality of the musculoskeletal system	10585	POMT1	ORPHA:370968
HP:0033127	Abnormality of the musculoskeletal system	3248	HPGD	ORPHA:217059
HP:0033127	Abnormality of the musculoskeletal system	4629	MYH11	ORPHA:91387
HP:0033127	Abnormality of the musculoskeletal system	7046	TGFBR1	ORPHA:91387
HP:0033127	Abnormality of the musculoskeletal system	7048	TGFBR2	ORPHA:91387
HP:0033127	Abnormality of the musculoskeletal system	4015	LOX	ORPHA:91387
HP:0033127	Abnormality of the musculoskeletal system	4087	SMAD2	ORPHA:91387
HP:0033127	Abnormality of the musculoskeletal system	7043	TGFB3	ORPHA:91387
HP:0033127	Abnormality of the musculoskeletal system	4088	SMAD3	ORPHA:91387
HP:0033127	Abnormality of the musculoskeletal system	7042	TGFB2	ORPHA:91387
HP:0033127	Abnormality of the musculoskeletal system	4089	SMAD4	ORPHA:91387
HP:0033127	Abnormality of the musculoskeletal system	59	ACTA2	ORPHA:91387
HP:0033127	Abnormality of the musculoskeletal system	5592	PRKG1	ORPHA:91387
HP:0033127	Abnormality of the musculoskeletal system	2301	FOXE3	ORPHA:91387
HP:0033127	Abnormality of the musculoskeletal system	4144	MAT2A	ORPHA:91387
HP:0033127	Abnormality of the musculoskeletal system	23493	HEY2	ORPHA:91387
HP:0033127	Abnormality of the musculoskeletal system	8076	MFAP5	ORPHA:91387
HP:0033127	Abnormality of the musculoskeletal system	4638	MYLK	ORPHA:91387
HP:0033127	Abnormality of the musculoskeletal system	79875	THSD4	ORPHA:91387
HP:0033127	Abnormality of the musculoskeletal system	2006	ELN	ORPHA:91387
HP:0033127	Abnormality of the musculoskeletal system	4644	MYO5A	ORPHA:33445
HP:0033127	Abnormality of the musculoskeletal system	170302	ARX	ORPHA:3175
HP:0033127	Abnormality of the musculoskeletal system	1718	DHCR24	ORPHA:35107
HP:0033127	Abnormality of the musculoskeletal system	84909	AOPEP	OMIM:619565
HP:0033127	Abnormality of the musculoskeletal system	5575	PRKAR1B	ORPHA:412066
HP:0033127	Abnormality of the musculoskeletal system	9499	MYOT	ORPHA:98911
HP:0033127	Abnormality of the musculoskeletal system	9499	MYOT	OMIM:609200
HP:0033127	Abnormality of the musculoskeletal system	7994	KAT6A	ORPHA:457193
HP:0033127	Abnormality of the musculoskeletal system	390594	KBTBD13	ORPHA:171439
HP:0033127	Abnormality of the musculoskeletal system	390594	KBTBD13	OMIM:609273
HP:0033127	Abnormality of the musculoskeletal system	51308	REEP2	OMIM:615625
HP:0033127	Abnormality of the musculoskeletal system	64374	SIL1	ORPHA:559
HP:0033127	Abnormality of the musculoskeletal system	10535	RNASEH2A	ORPHA:51
HP:0033127	Abnormality of the musculoskeletal system	84153	RNASEH2C	ORPHA:51
HP:0033127	Abnormality of the musculoskeletal system	25939	SAMHD1	ORPHA:51
HP:0033127	Abnormality of the musculoskeletal system	79621	RNASEH2B	ORPHA:51
HP:0033127	Abnormality of the musculoskeletal system	103	ADAR	ORPHA:51
HP:0033127	Abnormality of the musculoskeletal system	100147744	RNU7-1	ORPHA:51
HP:0033127	Abnormality of the musculoskeletal system	134353	LSM11	ORPHA:51
HP:0033127	Abnormality of the musculoskeletal system	6513	SLC2A1	ORPHA:71277
HP:0033127	Abnormality of the musculoskeletal system	79042	TSEN34	ORPHA:2524
HP:0033127	Abnormality of the musculoskeletal system	51091	SEPSECS	ORPHA:2524
HP:0033127	Abnormality of the musculoskeletal system	3691	ITGB4	ORPHA:158684
HP:0033127	Abnormality of the musculoskeletal system	10049	DNAJB6	OMIM:603511
HP:0033127	Abnormality of the musculoskeletal system	729359	PLIN4	OMIM:601846
HP:0033127	Abnormality of the musculoskeletal system	6442	SGCA	ORPHA:62
HP:0033127	Abnormality of the musculoskeletal system	190	NR0B1	OMIM:300200
HP:0033127	Abnormality of the musculoskeletal system	8813	DPM1	OMIM:608799
HP:0033127	Abnormality of the musculoskeletal system	8813	DPM1	ORPHA:79322
HP:0033127	Abnormality of the musculoskeletal system	51204	TACO1	OMIM:619052
HP:0033127	Abnormality of the musculoskeletal system	28958	COA3	OMIM:619058
HP:0033127	Abnormality of the musculoskeletal system	65080	MRPL44	OMIM:615395
HP:0033127	Abnormality of the musculoskeletal system	23474	ETHE1	OMIM:602473
HP:0033127	Abnormality of the musculoskeletal system	4697	NDUFA4	OMIM:619065
HP:0033127	Abnormality of the musculoskeletal system	84705	GTPBP3	OMIM:616198
HP:0033127	Abnormality of the musculoskeletal system	54931	TRMT10C	OMIM:616974
HP:0033127	Abnormality of the musculoskeletal system	2670	GFAP	ORPHA:363722
HP:0033127	Abnormality of the musculoskeletal system	51	ACOX1	OMIM:618960
HP:0033127	Abnormality of the musculoskeletal system	686	BTD	ORPHA:79241
HP:0033127	Abnormality of the musculoskeletal system	23769	FLRT1	ORPHA:320406
HP:0033127	Abnormality of the musculoskeletal system	55775	TDP1	ORPHA:94124
HP:0033127	Abnormality of the musculoskeletal system	55775	TDP1	OMIM:607250
HP:0033127	Abnormality of the musculoskeletal system	4704	NDUFA9	OMIM:618247
HP:0033127	Abnormality of the musculoskeletal system	26090	ABHD12	OMIM:612674
HP:0033127	Abnormality of the musculoskeletal system	9147	NEMF	OMIM:619099
HP:0033127	Abnormality of the musculoskeletal system	10273	STUB1	ORPHA:412057
HP:0033127	Abnormality of the musculoskeletal system	2859	GPR35	ORPHA:171
HP:0033127	Abnormality of the musculoskeletal system	10507	SEMA4D	ORPHA:171
HP:0033127	Abnormality of the musculoskeletal system	4485	MST1	ORPHA:171
HP:0033127	Abnormality of the musculoskeletal system	91452	ACBD5	OMIM:618863
HP:0033127	Abnormality of the musculoskeletal system	7156	TOP3A	OMIM:618098
HP:0033127	Abnormality of the musculoskeletal system	84265	POLR3GL	OMIM:619234
HP:0033127	Abnormality of the musculoskeletal system	26576	SRPK3	OMIM:301134
HP:0033127	Abnormality of the musculoskeletal system	10345	TRDN	OMIM:615441
HP:0033127	Abnormality of the musculoskeletal system	132001	TAMM41	OMIM:620139
HP:0033127	Abnormality of the musculoskeletal system	50640	PNPLA8	OMIM:251950
HP:0033127	Abnormality of the musculoskeletal system	5836	PYGL	ORPHA:369
HP:0033127	Abnormality of the musculoskeletal system	1807	DPYS	OMIM:222748
HP:0033127	Abnormality of the musculoskeletal system	2660	MSTN	OMIM:614160
HP:0033127	Abnormality of the musculoskeletal system	10555	AGPAT2	OMIM:608594
HP:0033127	Abnormality of the musculoskeletal system	29958	DMGDH	ORPHA:243343
HP:0033127	Abnormality of the musculoskeletal system	29958	DMGDH	OMIM:605850
HP:0033127	Abnormality of the musculoskeletal system	866	SERPINA6	OMIM:611489
HP:0033127	Abnormality of the musculoskeletal system	54345	SOX18	OMIM:137940
HP:0033127	Abnormality of the musculoskeletal system	50628	GEMIN4	OMIM:617913
HP:0033127	Abnormality of the musculoskeletal system	3166	HMX1	OMIM:612109
HP:0033127	Abnormality of the musculoskeletal system	10667	FARS2	ORPHA:466722
HP:0033127	Abnormality of the musculoskeletal system	1641	DCX	ORPHA:2148
HP:0033127	Abnormality of the musculoskeletal system	4337	MOCS1	OMIM:252150
HP:0033127	Abnormality of the musculoskeletal system	6792	CDKL5	ORPHA:3095
HP:0033127	Abnormality of the musculoskeletal system	6792	CDKL5	ORPHA:505652
HP:0033127	Abnormality of the musculoskeletal system	22854	NTNG1	ORPHA:3095
HP:0033127	Abnormality of the musculoskeletal system	9568	GABBR2	ORPHA:3095
HP:0033127	Abnormality of the musculoskeletal system	4204	MECP2	ORPHA:3095
HP:0033127	Abnormality of the musculoskeletal system	4204	MECP2	ORPHA:778
HP:0033127	Abnormality of the musculoskeletal system	5649	RELN	ORPHA:89844
HP:0033127	Abnormality of the musculoskeletal system	10300	KATNB1	ORPHA:89844
HP:0033127	Abnormality of the musculoskeletal system	54820	NDE1	ORPHA:89844
HP:0033127	Abnormality of the musculoskeletal system	25828	TXN2	ORPHA:478029
HP:0033127	Abnormality of the musculoskeletal system	80311	KLHL15	OMIM:300982
HP:0033127	Abnormality of the musculoskeletal system	6926	TBX3	ORPHA:3138
HP:0033127	Abnormality of the musculoskeletal system	85465	SELENOI	ORPHA:506353
HP:0033127	Abnormality of the musculoskeletal system	6683	SPAST	ORPHA:100985
HP:0033127	Abnormality of the musculoskeletal system	8314	BAP1	ORPHA:2495
HP:0033127	Abnormality of the musculoskeletal system	51684	SUFU	ORPHA:2495
HP:0033127	Abnormality of the musculoskeletal system	6326	SCN2A	ORPHA:293181
HP:0033127	Abnormality of the musculoskeletal system	57468	SLC12A5	ORPHA:293181
HP:0033127	Abnormality of the musculoskeletal system	23236	PLCB1	ORPHA:293181
HP:0033127	Abnormality of the musculoskeletal system	3785	KCNQ2	ORPHA:293181
HP:0033127	Abnormality of the musculoskeletal system	57582	KCNT1	ORPHA:293181
HP:0033127	Abnormality of the musculoskeletal system	79751	SLC25A22	ORPHA:293181
HP:0033127	Abnormality of the musculoskeletal system	57465	TBC1D24	ORPHA:293181
HP:0033127	Abnormality of the musculoskeletal system	5551	PRF1	ORPHA:540
HP:0033127	Abnormality of the musculoskeletal system	8676	STX11	ORPHA:540
HP:0033127	Abnormality of the musculoskeletal system	201294	UNC13D	ORPHA:540
HP:0033127	Abnormality of the musculoskeletal system	6813	STXBP2	ORPHA:540
HP:0033127	Abnormality of the musculoskeletal system	5921	RASA1	ORPHA:137667
HP:0033127	Abnormality of the musculoskeletal system	2475	MTOR	ORPHA:99802
HP:0033127	Abnormality of the musculoskeletal system	10000	AKT3	ORPHA:99802
HP:0033127	Abnormality of the musculoskeletal system	443	ASPA	ORPHA:314911
HP:0033127	Abnormality of the musculoskeletal system	440193	CCDC88C	ORPHA:423275
HP:0033127	Abnormality of the musculoskeletal system	7337	UBE3A	ORPHA:98794
HP:0033127	Abnormality of the musculoskeletal system	2895	GRID2	ORPHA:363432
HP:0033127	Abnormality of the musculoskeletal system	215	ABCD1	ORPHA:139399
HP:0033127	Abnormality of the musculoskeletal system	215	ABCD1	ORPHA:139396
HP:0033127	Abnormality of the musculoskeletal system	2911	GRM1	ORPHA:324262
HP:0033127	Abnormality of the musculoskeletal system	1737	DLAT	ORPHA:79244
HP:0033127	Abnormality of the musculoskeletal system	80704	SLC19A3	ORPHA:263410
HP:0033127	Abnormality of the musculoskeletal system	23230	VPS13A	ORPHA:2388
HP:0033127	Abnormality of the musculoskeletal system	57338	JPH3	ORPHA:98934
HP:0033127	Abnormality of the musculoskeletal system	7187	TRAF3	ORPHA:1930
HP:0033127	Abnormality of the musculoskeletal system	81622	UNC93B1	ORPHA:1930
HP:0033127	Abnormality of the musculoskeletal system	148022	TICAM1	ORPHA:1930
HP:0033127	Abnormality of the musculoskeletal system	7098	TLR3	ORPHA:1930
HP:0033127	Abnormality of the musculoskeletal system	7066	THPO	ORPHA:3319
HP:0033127	Abnormality of the musculoskeletal system	26146	TRAF3IP1	ORPHA:3156
HP:0033127	Abnormality of the musculoskeletal system	27130	INVS	ORPHA:3156
HP:0033127	Abnormality of the musculoskeletal system	261734	NPHP4	ORPHA:3156
HP:0033127	Abnormality of the musculoskeletal system	22897	CEP164	ORPHA:3156
HP:0033127	Abnormality of the musculoskeletal system	60676	PAPPA2	OMIM:619489
HP:0033127	Abnormality of the musculoskeletal system	51163	DBR1	OMIM:620510
HP:0033127	Abnormality of the musculoskeletal system	151188	ARL6IP6	ORPHA:1556
HP:0033127	Abnormality of the musculoskeletal system	23554	TSPAN12	ORPHA:891
HP:0033127	Abnormality of the musculoskeletal system	79797	ZNF408	ORPHA:891
HP:0033127	Abnormality of the musculoskeletal system	140628	GATA5	ORPHA:402075
HP:0033127	Abnormality of the musculoskeletal system	4091	SMAD6	ORPHA:402075
HP:0033127	Abnormality of the musculoskeletal system	57187	THOC2	ORPHA:457240
HP:0033127	Abnormality of the musculoskeletal system	28962	OSTM1	OMIM:259720
HP:0033127	Abnormality of the musculoskeletal system	3590	IL11RA	OMIM:614188
HP:0033127	Abnormality of the musculoskeletal system	126695	KDF1	OMIM:617337
HP:0033127	Abnormality of the musculoskeletal system	10992	SF3B2	OMIM:164210
HP:0033127	Abnormality of the musculoskeletal system	6628	SNRPB	OMIM:117650
HP:0033127	Abnormality of the musculoskeletal system	23288	IQCE	OMIM:617642
HP:0033127	Abnormality of the musculoskeletal system	2184	FAH	OMIM:276700
HP:0033127	Abnormality of the musculoskeletal system	10586	MAB21L2	OMIM:615877
HP:0033127	Abnormality of the musculoskeletal system	8516	ITGA8	ORPHA:1848
HP:0033127	Abnormality of the musculoskeletal system	26281	FGF20	ORPHA:1848
HP:0033127	Abnormality of the musculoskeletal system	2674	GFRA1	ORPHA:1848
HP:0033127	Abnormality of the musculoskeletal system	7484	WNT9B	ORPHA:1848
HP:0033127	Abnormality of the musculoskeletal system	80000	GREB1L	ORPHA:1848
HP:0033127	Abnormality of the musculoskeletal system	5582	PRKCG	ORPHA:98763
HP:0033127	Abnormality of the musculoskeletal system	8139	GAN	ORPHA:643
HP:0033127	Abnormality of the musculoskeletal system	23204	ARL6IP1	ORPHA:401780
HP:0033127	Abnormality of the musculoskeletal system	1131	CHRM3	ORPHA:2970
HP:0033127	Abnormality of the musculoskeletal system	1131	CHRM3	OMIM:100100
HP:0033127	Abnormality of the musculoskeletal system	11330	CTRC	ORPHA:103918
HP:0033127	Abnormality of the musculoskeletal system	11330	CTRC	ORPHA:676
HP:0033127	Abnormality of the musculoskeletal system	11330	CTRC	OMIM:167800
HP:0033127	Abnormality of the musculoskeletal system	6690	SPINK1	ORPHA:103918
HP:0033127	Abnormality of the musculoskeletal system	6690	SPINK1	ORPHA:676
HP:0033127	Abnormality of the musculoskeletal system	6690	SPINK1	OMIM:608189
HP:0033127	Abnormality of the musculoskeletal system	6690	SPINK1	OMIM:167800
HP:0033127	Abnormality of the musculoskeletal system	5644	PRSS1	ORPHA:676
HP:0033127	Abnormality of the musculoskeletal system	5644	PRSS1	OMIM:167800
HP:0033127	Abnormality of the musculoskeletal system	5645	PRSS2	ORPHA:676
HP:0033127	Abnormality of the musculoskeletal system	5645	PRSS2	OMIM:167800
HP:0033127	Abnormality of the musculoskeletal system	55503	TRPV6	ORPHA:676
HP:0033127	Abnormality of the musculoskeletal system	846	CASR	ORPHA:676
HP:0033127	Abnormality of the musculoskeletal system	1080	CFTR	ORPHA:676
HP:0033127	Abnormality of the musculoskeletal system	1080	CFTR	OMIM:167800
HP:0033127	Abnormality of the musculoskeletal system	1357	CPA1	ORPHA:676
HP:0033127	Abnormality of the musculoskeletal system	7450	VWF	OMIM:193400
HP:0033127	Abnormality of the musculoskeletal system	7450	VWF	OMIM:277480
HP:0033127	Abnormality of the musculoskeletal system	2160	F11	ORPHA:329
HP:0033127	Abnormality of the musculoskeletal system	2153	F5	ORPHA:326
HP:0033127	Abnormality of the musculoskeletal system	2158	F9	OMIM:306900
HP:0033127	Abnormality of the musculoskeletal system	3998	LMAN1	ORPHA:35909
HP:0033127	Abnormality of the musculoskeletal system	90411	MCFD2	ORPHA:35909
HP:0033127	Abnormality of the musculoskeletal system	5328	PLAU	OMIM:601709
HP:0033127	Abnormality of the musculoskeletal system	1909	EDNRA	OMIM:616367
HP:0033127	Abnormality of the musculoskeletal system	22884	WDR37	OMIM:618652
HP:0033127	Abnormality of the musculoskeletal system	7840	ALMS1	ORPHA:64
HP:0033127	Abnormality of the musculoskeletal system	7840	ALMS1	OMIM:203800
HP:0033127	Abnormality of the musculoskeletal system	4158	MC2R	OMIM:202200
HP:0033127	Abnormality of the musculoskeletal system	23512	SUZ12	OMIM:618786
HP:0033127	Abnormality of the musculoskeletal system	23512	SUZ12	ORPHA:3447
HP:0033127	Abnormality of the musculoskeletal system	3290	HSD11B1	OMIM:614662
HP:0033127	Abnormality of the musculoskeletal system	84282	RNF135	ORPHA:137634
HP:0033127	Abnormality of the musculoskeletal system	3008	H1-4	OMIM:617537
HP:0033127	Abnormality of the musculoskeletal system	23169	SLC35D1	ORPHA:3144
HP:0033127	Abnormality of the musculoskeletal system	9690	UBE3C	OMIM:620270
HP:0033127	Abnormality of the musculoskeletal system	55790	CSGALNACT1	OMIM:618870
HP:0033127	Abnormality of the musculoskeletal system	55790	CSGALNACT1	ORPHA:1425
HP:0033127	Abnormality of the musculoskeletal system	6942	TCF20	OMIM:618430
HP:0033127	Abnormality of the musculoskeletal system	200424	TET3	OMIM:618798
HP:0033127	Abnormality of the musculoskeletal system	3952	LEP	ORPHA:66628
HP:0033127	Abnormality of the musculoskeletal system	55252	ASXL2	OMIM:617190
HP:0033127	Abnormality of the musculoskeletal system	3784	KCNQ1	OMIM:130650
HP:0033127	Abnormality of the musculoskeletal system	10984	KCNQ1OT1	OMIM:130650
HP:0033127	Abnormality of the musculoskeletal system	84068	SLC10A7	OMIM:618363
HP:0033127	Abnormality of the musculoskeletal system	2146	EZH2	OMIM:277590
HP:0033127	Abnormality of the musculoskeletal system	2146	EZH2	ORPHA:3447
HP:0033127	Abnormality of the musculoskeletal system	3973	LHCGR	ORPHA:3000
HP:0033127	Abnormality of the musculoskeletal system	64131	XYLT1	ORPHA:370930
HP:0033127	Abnormality of the musculoskeletal system	64131	XYLT1	ORPHA:1425
HP:0033127	Abnormality of the musculoskeletal system	124583	CANT1	ORPHA:1425
HP:0033127	Abnormality of the musculoskeletal system	372	ARCN1	OMIM:617164
HP:0033127	Abnormality of the musculoskeletal system	1656	DDX6	OMIM:618653
HP:0033127	Abnormality of the musculoskeletal system	83550	GPR101	OMIM:300942
HP:0033127	Abnormality of the musculoskeletal system	3953	LEPR	ORPHA:179494
HP:0033127	Abnormality of the musculoskeletal system	4907	NT5E	OMIM:211800
HP:0033127	Abnormality of the musculoskeletal system	1297	COL9A1	OMIM:614135
HP:0033127	Abnormality of the musculoskeletal system	3594	IL12RB1	ORPHA:319552
HP:0033127	Abnormality of the musculoskeletal system	8379	MAD1L1	OMIM:620189
HP:0033127	Abnormality of the musculoskeletal system	1193	CLIC2	ORPHA:324410
HP:0033127	Abnormality of the musculoskeletal system	80152	CENPT	OMIM:618702
HP:0033127	Abnormality of the musculoskeletal system	23184	MESD	OMIM:618644
HP:0033127	Abnormality of the musculoskeletal system	10013	HDAC6	ORPHA:163966
HP:0033127	Abnormality of the musculoskeletal system	6857	SYT1	ORPHA:522077
HP:0033127	Abnormality of the musculoskeletal system	157570	ESCO2	ORPHA:3103
HP:0033127	Abnormality of the musculoskeletal system	1500	CTNND1	ORPHA:1997
HP:0033127	Abnormality of the musculoskeletal system	81607	NECTIN4	OMIM:613573
HP:0033127	Abnormality of the musculoskeletal system	2355	FOSL2	OMIM:620789
HP:0033127	Abnormality of the musculoskeletal system	64094	SMOC2	OMIM:125400
HP:0033127	Abnormality of the musculoskeletal system	3918	LAMC2	ORPHA:79404
HP:0033127	Abnormality of the musculoskeletal system	3918	LAMC2	ORPHA:79402
HP:0033127	Abnormality of the musculoskeletal system	3918	LAMC2	OMIM:226700
HP:0033127	Abnormality of the musculoskeletal system	57511	COG6	ORPHA:363523
HP:0033127	Abnormality of the musculoskeletal system	57511	COG6	OMIM:614576
HP:0033127	Abnormality of the musculoskeletal system	57511	COG6	OMIM:615328
HP:0033127	Abnormality of the musculoskeletal system	222663	SCUBE3	OMIM:619184
HP:0033127	Abnormality of the musculoskeletal system	4591	TRIM37	OMIM:253250
HP:0033127	Abnormality of the musculoskeletal system	83479	DDX59	ORPHA:2919
HP:0033127	Abnormality of the musculoskeletal system	79977	GRHL2	OMIM:616029
HP:0033127	Abnormality of the musculoskeletal system	387	RHOA	OMIM:618727
HP:0033127	Abnormality of the musculoskeletal system	23219	FBXO28	OMIM:619777
HP:0033127	Abnormality of the musculoskeletal system	1107	CHD3	OMIM:618205
HP:0033127	Abnormality of the musculoskeletal system	4487	MSX1	ORPHA:99798
HP:0033127	Abnormality of the musculoskeletal system	128178	EDARADD	ORPHA:99798
HP:0033127	Abnormality of the musculoskeletal system	5083	PAX9	ORPHA:99798
HP:0033127	Abnormality of the musculoskeletal system	7341	SUMO1	ORPHA:99798
HP:0033127	Abnormality of the musculoskeletal system	80326	WNT10A	ORPHA:99798
HP:0033127	Abnormality of the musculoskeletal system	1896	EDA	ORPHA:99798
HP:0033127	Abnormality of the musculoskeletal system	3664	IRF6	ORPHA:99798
HP:0033127	Abnormality of the musculoskeletal system	4040	LRP6	ORPHA:99798
HP:0033127	Abnormality of the musculoskeletal system	7039	TGFA	ORPHA:99798
HP:0033127	Abnormality of the musculoskeletal system	7480	WNT10B	ORPHA:99798
HP:0033127	Abnormality of the musculoskeletal system	5062	PAK2	OMIM:618458
HP:0033127	Abnormality of the musculoskeletal system	5888	RAD51	OMIM:617244
HP:0033127	Abnormality of the musculoskeletal system	91461	PKDCC	OMIM:618821
HP:0033127	Abnormality of the musculoskeletal system	79770	TXNDC15	ORPHA:564
HP:0033127	Abnormality of the musculoskeletal system	79770	TXNDC15	OMIM:619879
HP:0033127	Abnormality of the musculoskeletal system	1376	CPT2	OMIM:608836
HP:0033127	Abnormality of the musculoskeletal system	1376	CPT2	ORPHA:228308
HP:0033127	Abnormality of the musculoskeletal system	4067	LYN	OMIM:620376
HP:0033127	Abnormality of the musculoskeletal system	10861	SLC26A1	OMIM:620372
HP:0033127	Abnormality of the musculoskeletal system	5002	SLC22A18	OMIM:268210
HP:0033127	Abnormality of the musculoskeletal system	8013	NR4A3	OMIM:612237
HP:0033127	Abnormality of the musculoskeletal system	2308	FOXO1	OMIM:268220
HP:0033127	Abnormality of the musculoskeletal system	5077	PAX3	OMIM:268220
HP:0033127	Abnormality of the musculoskeletal system	9817	KEAP1	ORPHA:276399
HP:0033127	Abnormality of the musculoskeletal system	3704	ITPA	OMIM:616647
HP:0033127	Abnormality of the musculoskeletal system	4137	MAPT	ORPHA:240085
HP:0033127	Abnormality of the musculoskeletal system	4137	MAPT	ORPHA:240071
HP:0033127	Abnormality of the musculoskeletal system	340075	ARSI	ORPHA:401815
HP:0033127	Abnormality of the musculoskeletal system	9420	CYP7B1	ORPHA:100986
HP:0033127	Abnormality of the musculoskeletal system	9420	CYP7B1	OMIM:270800
HP:0033127	Abnormality of the musculoskeletal system	8566	PDXK	OMIM:618511
HP:0033127	Abnormality of the musculoskeletal system	84668	HYCC1	OMIM:610532
HP:0033127	Abnormality of the musculoskeletal system	30813	VSX1	OMIM:614195
HP:0033127	Abnormality of the musculoskeletal system	80821	DDHD1	OMIM:609340
HP:0033127	Abnormality of the musculoskeletal system	80821	DDHD1	ORPHA:101008
HP:0033127	Abnormality of the musculoskeletal system	518	ATP5MC3	OMIM:619681
HP:0033127	Abnormality of the musculoskeletal system	8891	EIF2B3	OMIM:620313
HP:0033127	Abnormality of the musculoskeletal system	8892	EIF2B2	OMIM:620312
HP:0033127	Abnormality of the musculoskeletal system	25778	DSTYK	OMIM:270750
HP:0033127	Abnormality of the musculoskeletal system	58494	JAM2	OMIM:618824
HP:0033127	Abnormality of the musculoskeletal system	129607	CMPK2	OMIM:621018
HP:0033127	Abnormality of the musculoskeletal system	79903	NAA60	OMIM:620786
HP:0033127	Abnormality of the musculoskeletal system	5932	RBBP8	OMIM:606744
HP:0033127	Abnormality of the musculoskeletal system	5155	PDGFB	OMIM:615483
HP:0033127	Abnormality of the musculoskeletal system	5557	PRIM1	OMIM:620005
HP:0033127	Abnormality of the musculoskeletal system	5702	PSMC3	OMIM:619354
HP:0033127	Abnormality of the musculoskeletal system	63901	FAM111A	OMIM:127000
HP:0033127	Abnormality of the musculoskeletal system	63901	FAM111A	ORPHA:93325
HP:0033127	Abnormality of the musculoskeletal system	5925	RB1	OMIM:180200
HP:0033127	Abnormality of the musculoskeletal system	10939	AFG3L2	ORPHA:313772
HP:0033127	Abnormality of the musculoskeletal system	3110	MNX1	ORPHA:1552
HP:0033127	Abnormality of the musculoskeletal system	8546	AP3B1	OMIM:608233
HP:0033127	Abnormality of the musculoskeletal system	2487	FRZB	OMIM:165720
HP:0033127	Abnormality of the musculoskeletal system	641	BLM	ORPHA:125
HP:0033127	Abnormality of the musculoskeletal system	5138	PDE2A	OMIM:619150
HP:0033127	Abnormality of the musculoskeletal system	7360	UGP2	OMIM:618744
HP:0033127	Abnormality of the musculoskeletal system	51112	TRAPPC12	ORPHA:500144
HP:0033127	Abnormality of the musculoskeletal system	51112	TRAPPC12	OMIM:617669
HP:0033127	Abnormality of the musculoskeletal system	375387	NRROS	OMIM:618875
HP:0033127	Abnormality of the musculoskeletal system	10565	ARFGEF1	OMIM:619964
HP:0033127	Abnormality of the musculoskeletal system	6844	VAMP2	OMIM:618760
HP:0033127	Abnormality of the musculoskeletal system	10087	CERT1	OMIM:616351
HP:0033127	Abnormality of the musculoskeletal system	1660	DHX9	OMIM:620988
HP:0033127	Abnormality of the musculoskeletal system	5700	PSMC1	OMIM:620071
HP:0033127	Abnormality of the musculoskeletal system	1615	DARS1	OMIM:615281
HP:0033127	Abnormality of the musculoskeletal system	55739	NAXD	OMIM:618321
HP:0033127	Abnormality of the musculoskeletal system	197322	ACSF3	ORPHA:289504
HP:0033127	Abnormality of the musculoskeletal system	2495	FTH1	OMIM:620669
HP:0033127	Abnormality of the musculoskeletal system	23102	TBC1D2B	OMIM:619323
HP:0033127	Abnormality of the musculoskeletal system	2664	GDI1	OMIM:300849
HP:0033127	Abnormality of the musculoskeletal system	1000	CDH2	OMIM:618929
HP:0033127	Abnormality of the musculoskeletal system	7074	TIAM1	OMIM:619908
HP:0033127	Abnormality of the musculoskeletal system	374354	NHLRC2	OMIM:618278
HP:0033127	Abnormality of the musculoskeletal system	51294	PCDH12	OMIM:251280
HP:0033127	Abnormality of the musculoskeletal system	9439	MED23	OMIM:614249
HP:0033127	Abnormality of the musculoskeletal system	10844	TUBGCP2	OMIM:618737
HP:0033127	Abnormality of the musculoskeletal system	267	AMFR	OMIM:620379
HP:0033127	Abnormality of the musculoskeletal system	9150	CTDP1	OMIM:604168
HP:0033127	Abnormality of the musculoskeletal system	9150	CTDP1	ORPHA:48431
HP:0033127	Abnormality of the musculoskeletal system	6477	SIAH1	OMIM:619314
HP:0033127	Abnormality of the musculoskeletal system	1363	CPE	OMIM:619326
HP:0033127	Abnormality of the musculoskeletal system	1757	SARDH	ORPHA:3129
HP:0033127	Abnormality of the musculoskeletal system	54658	UGT1A1	ORPHA:79234
HP:0033127	Abnormality of the musculoskeletal system	2554	GABRA1	ORPHA:33069
HP:0033127	Abnormality of the musculoskeletal system	57526	PCDH19	ORPHA:33069
HP:0033127	Abnormality of the musculoskeletal system	57194	ATP10A	ORPHA:411515
HP:0033127	Abnormality of the musculoskeletal system	7143	TNR	OMIM:619653
HP:0033127	Abnormality of the musculoskeletal system	59345	GNB4	OMIM:615185
HP:0033127	Abnormality of the musculoskeletal system	6652	SORD	OMIM:618912
HP:0033127	Abnormality of the musculoskeletal system	3798	KIF5A	ORPHA:100991
HP:0033127	Abnormality of the musculoskeletal system	1621	DBH	ORPHA:230
HP:0033127	Abnormality of the musculoskeletal system	9131	AIFM1	ORPHA:238329
HP:0033127	Abnormality of the musculoskeletal system	7148	TNXB	OMIM:606408
HP:0033127	Abnormality of the musculoskeletal system	8557	TCAP	OMIM:601954
HP:0033127	Abnormality of the musculoskeletal system	4703	NEB	ORPHA:171430
HP:0033127	Abnormality of the musculoskeletal system	131377	KLHL40	ORPHA:171430
HP:0033127	Abnormality of the musculoskeletal system	10324	KLHL41	ORPHA:171430
HP:0033127	Abnormality of the musculoskeletal system	56203	LMOD3	ORPHA:171430
HP:0033127	Abnormality of the musculoskeletal system	5339	PLEC	OMIM:226670
HP:0033127	Abnormality of the musculoskeletal system	8291	DYSF	OMIM:253601
HP:0033127	Abnormality of the musculoskeletal system	4747	NEFL	OMIM:607684
HP:0033127	Abnormality of the musculoskeletal system	55679	LIMS2	OMIM:616827
HP:0033127	Abnormality of the musculoskeletal system	7390	UROS	ORPHA:79277
HP:0033127	Abnormality of the musculoskeletal system	2623	GATA1	ORPHA:79277
HP:0033127	Abnormality of the musculoskeletal system	203859	ANO5	OMIM:611307
HP:0033127	Abnormality of the musculoskeletal system	3908	LAMA2	ORPHA:258
HP:0033127	Abnormality of the musculoskeletal system	391356	PTRHD1	OMIM:620747
HP:0033127	Abnormality of the musculoskeletal system	1337	COX6A1	OMIM:616039
HP:0033127	Abnormality of the musculoskeletal system	2027	ENO3	OMIM:612932
HP:0033127	Abnormality of the musculoskeletal system	121512	FGD4	OMIM:609311
HP:0033127	Abnormality of the musculoskeletal system	8854	ALDH1A2	OMIM:620025
HP:0033127	Abnormality of the musculoskeletal system	7026	NR2F2	OMIM:618901
HP:0033127	Abnormality of the musculoskeletal system	11080	DNAJB4	OMIM:620326
HP:0033127	Abnormality of the musculoskeletal system	1859	DYRK1A	ORPHA:464311
HP:0033127	Abnormality of the musculoskeletal system	9927	MFN2	ORPHA:2398
HP:0033127	Abnormality of the musculoskeletal system	7421	VDR	ORPHA:93160
HP:0033127	Abnormality of the musculoskeletal system	7305	TYROBP	ORPHA:2770
HP:0033127	Abnormality of the musculoskeletal system	54209	TREM2	ORPHA:2770
HP:0033127	Abnormality of the musculoskeletal system	64840	PORCN	ORPHA:2092
HP:0033127	Abnormality of the musculoskeletal system	79087	ALG12	ORPHA:79324
HP:0033127	Abnormality of the musculoskeletal system	27183	VPS4A	OMIM:619273
HP:0033127	Abnormality of the musculoskeletal system	90268	OTULIN	OMIM:617099
HP:0033127	Abnormality of the musculoskeletal system	213	ALB	OMIM:616000
HP:0033127	Abnormality of the musculoskeletal system	213	ALB	ORPHA:86816
HP:0033127	Abnormality of the musculoskeletal system	117581	TWIST2	OMIM:209885
HP:0033127	Abnormality of the musculoskeletal system	63924	CIDEC	OMIM:615238
HP:0033127	Abnormality of the musculoskeletal system	63924	CIDEC	ORPHA:435651
HP:0033127	Abnormality of the musculoskeletal system	150	ADRA2A	OMIM:620679
HP:0033127	Abnormality of the musculoskeletal system	1650	DDOST	ORPHA:300536
HP:0033127	Abnormality of the musculoskeletal system	51371	POMP	OMIM:618048
HP:0033127	Abnormality of the musculoskeletal system	1777	DNASE2	OMIM:619858
HP:0033127	Abnormality of the musculoskeletal system	208	AKT2	ORPHA:79085
HP:0033127	Abnormality of the musculoskeletal system	5346	PLIN1	OMIM:613877
HP:0033127	Abnormality of the musculoskeletal system	2917	GRM7	OMIM:618922
HP:0033127	Abnormality of the musculoskeletal system	11145	PLAAT3	OMIM:620683
HP:0033127	Abnormality of the musculoskeletal system	2353	FOS	ORPHA:528
HP:0033127	Abnormality of the musculoskeletal system	5130	PCYT1A	OMIM:620680
HP:0033127	Abnormality of the musculoskeletal system	64788	LMF1	OMIM:246650
HP:0033127	Abnormality of the musculoskeletal system	3480	IGF1R	OMIM:270450
HP:0033127	Abnormality of the musculoskeletal system	5122	PCSK1	ORPHA:71528
HP:0033127	Abnormality of the musculoskeletal system	51763	INPP5K	OMIM:617404
HP:0033127	Abnormality of the musculoskeletal system	4160	MC4R	ORPHA:71529
HP:0033127	Abnormality of the musculoskeletal system	5443	POMC	ORPHA:71526
HP:0033127	Abnormality of the musculoskeletal system	1468	SLC25A10	OMIM:618972
HP:0033127	Abnormality of the musculoskeletal system	7019	TFAM	OMIM:617156
HP:0033127	Abnormality of the musculoskeletal system	7700	ZNF141	OMIM:615226
HP:0033127	Abnormality of the musculoskeletal system	9231	DLG5	OMIM:620703
HP:0033127	Abnormality of the musculoskeletal system	10084	PQBP1	OMIM:309500
HP:0033127	Abnormality of the musculoskeletal system	257	ALX3	OMIM:136760
HP:0033127	Abnormality of the musculoskeletal system	6913	TBX15	OMIM:260660
HP:0033127	Abnormality of the musculoskeletal system	3458	IFNG	OMIM:613254
HP:0033127	Abnormality of the musculoskeletal system	3458	IFNG	ORPHA:805
HP:0033127	Abnormality of the musculoskeletal system	7249	TSC2	OMIM:613254
HP:0033127	Abnormality of the musculoskeletal system	7249	TSC2	ORPHA:805
HP:0033127	Abnormality of the musculoskeletal system	7249	TSC2	ORPHA:538
HP:0033127	Abnormality of the musculoskeletal system	7248	TSC1	ORPHA:805
HP:0033127	Abnormality of the musculoskeletal system	7248	TSC1	OMIM:191100
HP:0033127	Abnormality of the musculoskeletal system	7248	TSC1	ORPHA:538
HP:0033127	Abnormality of the musculoskeletal system	5307	PITX1	OMIM:119800
HP:0033127	Abnormality of the musculoskeletal system	1289	COL5A1	ORPHA:287
HP:0033127	Abnormality of the musculoskeletal system	7428	VHL	ORPHA:892
HP:0033127	Abnormality of the musculoskeletal system	6399	TRAPPC2	ORPHA:93284
HP:0033127	Abnormality of the musculoskeletal system	11277	TREX1	OMIM:192315
HP:0033127	Abnormality of the musculoskeletal system	8575	PRKRA	OMIM:612067
HP:0033127	Abnormality of the musculoskeletal system	1371	CPOX	ORPHA:79273
HP:0033127	Abnormality of the musculoskeletal system	3145	HMBS	ORPHA:79276
HP:0033127	Abnormality of the musculoskeletal system	7476	WNT7A	OMIM:276820
HP:0033127	Abnormality of the musculoskeletal system	6910	TBX5	OMIM:142900
HP:0033127	Abnormality of the musculoskeletal system	6910	TBX5	ORPHA:392
HP:0033127	Abnormality of the musculoskeletal system	24140	FTSJ1	OMIM:309549
HP:0033127	Abnormality of the musculoskeletal system	60401	EDA2R	ORPHA:181
HP:0033127	Abnormality of the musculoskeletal system	1906	EDN1	ORPHA:137888
HP:0033127	Abnormality of the musculoskeletal system	2773	GNAI3	ORPHA:137888
HP:0033127	Abnormality of the musculoskeletal system	63932	STEEP1	OMIM:301013
HP:0033127	Abnormality of the musculoskeletal system	8823	FGF16	OMIM:309630
HP:0033127	Abnormality of the musculoskeletal system	149775	GNAS-AS1	OMIM:603233
HP:0033127	Abnormality of the musculoskeletal system	5139	PDE3A	OMIM:112410
HP:0033127	Abnormality of the musculoskeletal system	5139	PDE3A	ORPHA:1276
HP:0033127	Abnormality of the musculoskeletal system	4810	NHS	ORPHA:627
HP:0033127	Abnormality of the musculoskeletal system	23498	HAAO	OMIM:617660
HP:0033127	Abnormality of the musculoskeletal system	55835	CPAP	OMIM:613676
HP:0033127	Abnormality of the musculoskeletal system	51111	KMT5B	OMIM:617788
HP:0033127	Abnormality of the musculoskeletal system	3988	LIPA	OMIM:278000
HP:0033127	Abnormality of the musculoskeletal system	3988	LIPA	ORPHA:75233
HP:0033127	Abnormality of the musculoskeletal system	3988	LIPA	ORPHA:75234
HP:0033127	Abnormality of the musculoskeletal system	3988	LIPA	OMIM:620151
HP:0033127	Abnormality of the musculoskeletal system	1583	CYP11A1	ORPHA:289548
HP:0033127	Abnormality of the musculoskeletal system	11235	PDCD10	ORPHA:221061
HP:0033127	Abnormality of the musculoskeletal system	83605	CCM2	ORPHA:221061
HP:0033127	Abnormality of the musculoskeletal system	89910	UBE3B	ORPHA:2707
HP:0033127	Abnormality of the musculoskeletal system	1353	COX11	OMIM:620275
HP:0033127	Abnormality of the musculoskeletal system	3209	HOXA13	OMIM:140000
HP:0033127	Abnormality of the musculoskeletal system	84274	COQ5	OMIM:619028
HP:0033127	Abnormality of the musculoskeletal system	64218	SEMA4A	ORPHA:440437
HP:0033127	Abnormality of the musculoskeletal system	472	ATM	ORPHA:440437
HP:0033127	Abnormality of the musculoskeletal system	675	BRCA2	ORPHA:440437
HP:0033127	Abnormality of the musculoskeletal system	657	BMPR1A	ORPHA:440437
HP:0033127	Abnormality of the musculoskeletal system	6224	RPS20	ORPHA:440437
HP:0033127	Abnormality of the musculoskeletal system	4595	MUTYH	ORPHA:440437
HP:0033127	Abnormality of the musculoskeletal system	11200	CHEK2	ORPHA:440437
HP:0033127	Abnormality of the musculoskeletal system	4292	MLH1	ORPHA:144
HP:0033127	Abnormality of the musculoskeletal system	5395	PMS2	ORPHA:144
HP:0033127	Abnormality of the musculoskeletal system	2956	MSH6	ORPHA:144
HP:0033127	Abnormality of the musculoskeletal system	5378	PMS1	ORPHA:144
HP:0033127	Abnormality of the musculoskeletal system	4436	MSH2	ORPHA:144
HP:0033127	Abnormality of the musculoskeletal system	7373	COL14A1	ORPHA:79501
HP:0033127	Abnormality of the musculoskeletal system	79719	AAGAB	ORPHA:79501
HP:0033127	Abnormality of the musculoskeletal system	6495	SIX1	OMIM:113650
HP:0033127	Abnormality of the musculoskeletal system	6495	SIX1	ORPHA:107
HP:0033127	Abnormality of the musculoskeletal system	6495	SIX1	ORPHA:52429
HP:0033127	Abnormality of the musculoskeletal system	29998	BICRA	OMIM:619325
HP:0033127	Abnormality of the musculoskeletal system	9790	BMS1	ORPHA:1114
HP:0033127	Abnormality of the musculoskeletal system	54567	DLL4	ORPHA:1114
HP:0033127	Abnormality of the musculoskeletal system	9723	SEMA3E	ORPHA:138
HP:0033127	Abnormality of the musculoskeletal system	10381	TUBB3	OMIM:600638
HP:0033127	Abnormality of the musculoskeletal system	84617	TUBB6	OMIM:617732
HP:0033127	Abnormality of the musculoskeletal system	3211	HOXB1	OMIM:614744
HP:0033127	Abnormality of the musculoskeletal system	147912	SIX5	ORPHA:107
HP:0033127	Abnormality of the musculoskeletal system	23516	SLC39A14	OMIM:144755
HP:0033127	Abnormality of the musculoskeletal system	29089	UBE2T	OMIM:616435
HP:0033127	Abnormality of the musculoskeletal system	5144	PDE4D	ORPHA:950
HP:0033127	Abnormality of the musculoskeletal system	57020	VPS35L	OMIM:619135
HP:0033127	Abnormality of the musculoskeletal system	2677	GGCX	OMIM:277450
HP:0033127	Abnormality of the musculoskeletal system	5190	PEX6	OMIM:614862
HP:0033127	Abnormality of the musculoskeletal system	5190	PEX6	ORPHA:912
HP:0033127	Abnormality of the musculoskeletal system	50814	NSDHL	OMIM:308050
HP:0033127	Abnormality of the musculoskeletal system	8504	PEX3	OMIM:614882
HP:0033127	Abnormality of the musculoskeletal system	8504	PEX3	ORPHA:912
HP:0033127	Abnormality of the musculoskeletal system	5828	PEX2	OMIM:614866
HP:0033127	Abnormality of the musculoskeletal system	5828	PEX2	ORPHA:912
HP:0033127	Abnormality of the musculoskeletal system	7068	THRB	OMIM:274300
HP:0033127	Abnormality of the musculoskeletal system	5191	PEX7	OMIM:215100
HP:0033127	Abnormality of the musculoskeletal system	2990	GUSB	ORPHA:584
HP:0033127	Abnormality of the musculoskeletal system	1717	DHCR7	OMIM:270400
HP:0033127	Abnormality of the musculoskeletal system	8540	AGPS	OMIM:600121
HP:0033127	Abnormality of the musculoskeletal system	5189	PEX1	OMIM:601539
HP:0033127	Abnormality of the musculoskeletal system	5189	PEX1	ORPHA:912
HP:0033127	Abnormality of the musculoskeletal system	5189	PEX1	OMIM:214100
HP:0033127	Abnormality of the musculoskeletal system	5192	PEX10	OMIM:614870
HP:0033127	Abnormality of the musculoskeletal system	5192	PEX10	ORPHA:912
HP:0033127	Abnormality of the musculoskeletal system	55670	PEX26	OMIM:614872
HP:0033127	Abnormality of the musculoskeletal system	55670	PEX26	ORPHA:912
HP:0033127	Abnormality of the musculoskeletal system	9409	PEX16	OMIM:614876
HP:0033127	Abnormality of the musculoskeletal system	9409	PEX16	ORPHA:912
HP:0033127	Abnormality of the musculoskeletal system	5193	PEX12	OMIM:614859
HP:0033127	Abnormality of the musculoskeletal system	5193	PEX12	ORPHA:912
HP:0033127	Abnormality of the musculoskeletal system	5824	PEX19	ORPHA:912
HP:0033127	Abnormality of the musculoskeletal system	8799	PEX11B	ORPHA:912
HP:0033127	Abnormality of the musculoskeletal system	5830	PEX5	ORPHA:912
HP:0033127	Abnormality of the musculoskeletal system	5194	PEX13	ORPHA:912
HP:0033127	Abnormality of the musculoskeletal system	5195	PEX14	ORPHA:912
HP:0033127	Abnormality of the musculoskeletal system	3930	LBR	OMIM:215140
HP:0033127	Abnormality of the musculoskeletal system	10568	SLC34A2	ORPHA:60025
HP:0033127	Abnormality of the musculoskeletal system	5167	ENPP1	ORPHA:51608
HP:0033127	Abnormality of the musculoskeletal system	5167	ENPP1	OMIM:615522
HP:0033127	Abnormality of the musculoskeletal system	368	ABCC6	ORPHA:51608
HP:0033127	Abnormality of the musculoskeletal system	5297	PI4KA	ORPHA:436252
HP:0033127	Abnormality of the musculoskeletal system	57217	TTC7A	ORPHA:436252
HP:0033127	Abnormality of the musculoskeletal system	4693	NDP	ORPHA:91495
HP:0033127	Abnormality of the musculoskeletal system	220202	ATOH7	ORPHA:91495
HP:0033127	Abnormality of the musculoskeletal system	8322	FZD4	ORPHA:91495
HP:0033127	Abnormality of the musculoskeletal system	8675	STX16	ORPHA:94089
HP:0033127	Abnormality of the musculoskeletal system	336	APOA2	OMIM:143890
HP:0033127	Abnormality of the musculoskeletal system	2053	EPHX2	OMIM:143890
HP:0033127	Abnormality of the musculoskeletal system	10842	PPP1R17	OMIM:143890
HP:0033127	Abnormality of the musculoskeletal system	348	APOE	ORPHA:412
HP:0033127	Abnormality of the musculoskeletal system	335	APOA1	OMIM:618463
HP:0033127	Abnormality of the musculoskeletal system	84196	USP48	ORPHA:96253
HP:0033127	Abnormality of the musculoskeletal system	7157	TP53	ORPHA:96253
HP:0033127	Abnormality of the musculoskeletal system	9101	USP8	ORPHA:96253
HP:0033127	Abnormality of the musculoskeletal system	64072	CDH23	ORPHA:96253
HP:0033127	Abnormality of the musculoskeletal system	2908	NR3C1	ORPHA:96253
HP:0033127	Abnormality of the musculoskeletal system	546	ATRX	ORPHA:96253
HP:0033127	Abnormality of the musculoskeletal system	8518	ELP1	ORPHA:1764
HP:0033127	Abnormality of the musculoskeletal system	285590	SH3PXD2B	ORPHA:137834
HP:0033127	Abnormality of the musculoskeletal system	411	ARSB	OMIM:253200
HP:0033127	Abnormality of the musculoskeletal system	26277	TINF2	ORPHA:1775
HP:0033127	Abnormality of the musculoskeletal system	55651	NHP2	ORPHA:1775
HP:0033127	Abnormality of the musculoskeletal system	79650	USB1	ORPHA:1775
HP:0033127	Abnormality of the musculoskeletal system	55135	WRAP53	ORPHA:1775
HP:0033127	Abnormality of the musculoskeletal system	51750	RTEL1	ORPHA:1775
HP:0033127	Abnormality of the musculoskeletal system	7012	TERC	ORPHA:1775
HP:0033127	Abnormality of the musculoskeletal system	55505	NOP10	ORPHA:1775
HP:0033127	Abnormality of the musculoskeletal system	5073	PARN	ORPHA:1775
HP:0033127	Abnormality of the musculoskeletal system	7015	TERT	ORPHA:1775
HP:0033127	Abnormality of the musculoskeletal system	7015	TERT	OMIM:613989
HP:0033127	Abnormality of the musculoskeletal system	1736	DKC1	ORPHA:1775
HP:0033127	Abnormality of the musculoskeletal system	7298	TYMS	ORPHA:1775
HP:0033127	Abnormality of the musculoskeletal system	149233	IL23R	ORPHA:117
HP:0033127	Abnormality of the musculoskeletal system	3586	IL10	ORPHA:117
HP:0033127	Abnormality of the musculoskeletal system	4210	MEFV	ORPHA:117
HP:0033127	Abnormality of the musculoskeletal system	1230	CCR1	ORPHA:117
HP:0033127	Abnormality of the musculoskeletal system	355	FAS	ORPHA:117
HP:0033127	Abnormality of the musculoskeletal system	3592	IL12A	ORPHA:117
HP:0033127	Abnormality of the musculoskeletal system	101928376	IL12A-AS1	ORPHA:117
HP:0033127	Abnormality of the musculoskeletal system	7099	TLR4	ORPHA:117
HP:0033127	Abnormality of the musculoskeletal system	720	C4A	ORPHA:117
HP:0033127	Abnormality of the musculoskeletal system	337867	UBAC2	ORPHA:117
HP:0033127	Abnormality of the musculoskeletal system	51752	ERAP1	ORPHA:117
HP:0033127	Abnormality of the musculoskeletal system	8302	KLRC4	ORPHA:117
HP:0033127	Abnormality of the musculoskeletal system	83706	FERMT3	OMIM:612840
HP:0033127	Abnormality of the musculoskeletal system	30011	SH3KBP1	OMIM:300310
HP:0033127	Abnormality of the musculoskeletal system	23308	ICOSLG	OMIM:620825
HP:0033127	Abnormality of the musculoskeletal system	54440	SASH3	OMIM:301082
HP:0033127	Abnormality of the musculoskeletal system	6789	STK4	OMIM:614868
HP:0033127	Abnormality of the musculoskeletal system	9094	UNC119	OMIM:615518
HP:0033127	Abnormality of the musculoskeletal system	54014	BRWD1	OMIM:620438
HP:0033127	Abnormality of the musculoskeletal system	50615	IL21R	OMIM:615207
HP:0033127	Abnormality of the musculoskeletal system	3604	TNFRSF9	OMIM:620282
HP:0033127	Abnormality of the musculoskeletal system	84061	MAGT1	OMIM:300853
HP:0033127	Abnormality of the musculoskeletal system	10625	IVNS1ABP	OMIM:618969
HP:0033127	Abnormality of the musculoskeletal system	3551	IKBKB	OMIM:618204
HP:0033127	Abnormality of the musculoskeletal system	2214	FCGR3A	OMIM:615707
HP:0033127	Abnormality of the musculoskeletal system	6890	TAP1	OMIM:604571
HP:0033127	Abnormality of the musculoskeletal system	79645	CLXN	OMIM:620642
HP:0033127	Abnormality of the musculoskeletal system	146845	CFAP52	OMIM:619607
HP:0033127	Abnormality of the musculoskeletal system	25790	CFAP45	OMIM:619608
HP:0033127	Abnormality of the musculoskeletal system	6891	TAP2	OMIM:620813
HP:0033127	Abnormality of the musculoskeletal system	388389	DNAAF19	OMIM:614679
HP:0033127	Abnormality of the musculoskeletal system	56171	DNAH7	OMIM:620356
HP:0033127	Abnormality of the musculoskeletal system	11146	GLMN	ORPHA:83454
HP:0033127	Abnormality of the musculoskeletal system	22856	CHSY1	ORPHA:363417
HP:0033127	Abnormality of the musculoskeletal system	2890	GRIA1	OMIM:619927
HP:0033127	Abnormality of the musculoskeletal system	959	CD40LG	OMIM:308230
HP:0033127	Abnormality of the musculoskeletal system	219285	SAMD9L	OMIM:159550
HP:0033127	Abnormality of the musculoskeletal system	9918	NCAPD2	OMIM:617983
HP:0033127	Abnormality of the musculoskeletal system	8320	EOMES	ORPHA:171703
HP:0033127	Abnormality of the musculoskeletal system	10015	PDCD6IP	OMIM:620047
HP:0033127	Abnormality of the musculoskeletal system	4905	NSF	OMIM:619340
HP:0033127	Abnormality of the musculoskeletal system	6261	RYR1	ORPHA:98905
HP:0033127	Abnormality of the musculoskeletal system	101929726	MYMX	OMIM:619941
HP:0033127	Abnormality of the musculoskeletal system	567	B2M	ORPHA:314652
HP:0033127	Abnormality of the musculoskeletal system	4125	MAN2B1	ORPHA:309282
HP:0033127	Abnormality of the musculoskeletal system	22827	PUF60	ORPHA:508498
HP:0033127	Abnormality of the musculoskeletal system	27125	AFF4	ORPHA:444077
HP:0033127	Abnormality of the musculoskeletal system	5373	PMM2	ORPHA:79318
HP:0033127	Abnormality of the musculoskeletal system	427	ASAH1	ORPHA:333
HP:0033127	Abnormality of the musculoskeletal system	57190	SELENON	ORPHA:97244
HP:0033127	Abnormality of the musculoskeletal system	57190	SELENON	ORPHA:2020
HP:0033127	Abnormality of the musculoskeletal system	58	ACTA1	ORPHA:97244
HP:0033127	Abnormality of the musculoskeletal system	58	ACTA1	ORPHA:2020
HP:0033127	Abnormality of the musculoskeletal system	80232	WDR26	ORPHA:513456
HP:0033127	Abnormality of the musculoskeletal system	4633	MYL2	ORPHA:2020
HP:0033127	Abnormality of the musculoskeletal system	3679	ITGA7	ORPHA:2020
HP:0033127	Abnormality of the musculoskeletal system	7169	TPM2	ORPHA:2020
HP:0033127	Abnormality of the musculoskeletal system	9200	HACD1	ORPHA:2020
HP:0033127	Abnormality of the musculoskeletal system	7170	TPM3	ORPHA:2020
HP:0033127	Abnormality of the musculoskeletal system	51776	MAP3K20	ORPHA:2020
HP:0033127	Abnormality of the musculoskeletal system	440138	ALG11	ORPHA:280071
HP:0033127	Abnormality of the musculoskeletal system	51604	PIGT	ORPHA:369837
HP:0033127	Abnormality of the musculoskeletal system	6662	SOX9	OMIM:278850
HP:0033127	Abnormality of the musculoskeletal system	29123	ANKRD11	ORPHA:2332
HP:0033127	Abnormality of the musculoskeletal system	7415	VCP	ORPHA:329475
HP:0033127	Abnormality of the musculoskeletal system	55109	AGGF1	ORPHA:90308
HP:0033127	Abnormality of the musculoskeletal system	5290	PIK3CA	ORPHA:90308
HP:0033127	Abnormality of the musculoskeletal system	4621	MYH3	ORPHA:2990
HP:0033127	Abnormality of the musculoskeletal system	1146	CHRNG	ORPHA:2990
HP:0033127	Abnormality of the musculoskeletal system	4047	LSS	ORPHA:2850
HP:0033127	Abnormality of the musculoskeletal system	197	AHSG	ORPHA:2850
HP:0033127	Abnormality of the musculoskeletal system	3694	ITGB6	ORPHA:2850
HP:0033127	Abnormality of the musculoskeletal system	57231	SNX14	ORPHA:397709
HP:0033127	Abnormality of the musculoskeletal system	10483	SEC23B	ORPHA:201
HP:0033127	Abnormality of the musculoskeletal system	6391	SDHC	ORPHA:201
HP:0033127	Abnormality of the musculoskeletal system	205717	USF3	ORPHA:201
HP:0033127	Abnormality of the musculoskeletal system	100144748	KLLN	ORPHA:201
HP:0033127	Abnormality of the musculoskeletal system	56603	CYP26B1	OMIM:614416
HP:0033127	Abnormality of the musculoskeletal system	1750	DLX6	ORPHA:2440
HP:0033127	Abnormality of the musculoskeletal system	7979	SEM1	ORPHA:2440
HP:0033127	Abnormality of the musculoskeletal system	8945	BTRC	ORPHA:2440
HP:0033127	Abnormality of the musculoskeletal system	58513	EPS15L1	ORPHA:2440
HP:0033127	Abnormality of the musculoskeletal system	6468	FBXW4	ORPHA:2440
HP:0033127	Abnormality of the musculoskeletal system	2157	F8	ORPHA:169805
HP:0033127	Abnormality of the musculoskeletal system	2157	F8	ORPHA:169802
HP:0033127	Abnormality of the musculoskeletal system	2165	F13B	ORPHA:331
HP:0033127	Abnormality of the musculoskeletal system	2162	F13A1	ORPHA:331
HP:0033127	Abnormality of the musculoskeletal system	5054	SERPINE1	ORPHA:465
HP:0033127	Abnormality of the musculoskeletal system	2159	F10	OMIM:227600
HP:0033127	Abnormality of the musculoskeletal system	2159	F10	ORPHA:328
HP:0033127	Abnormality of the musculoskeletal system	2155	F7	OMIM:227500
HP:0033127	Abnormality of the musculoskeletal system	2147	F2	ORPHA:325
HP:0033127	Abnormality of the musculoskeletal system	2997	GYS1	OMIM:611556
HP:0033127	Abnormality of the musculoskeletal system	79228	THOC6	ORPHA:363444
HP:0033127	Abnormality of the musculoskeletal system	26100	WIPI2	OMIM:618453
HP:0033127	Abnormality of the musculoskeletal system	90416	CCDC32	OMIM:619123
HP:0033127	Abnormality of the musculoskeletal system	96459	FNIP1	OMIM:619705
HP:0033127	Abnormality of the musculoskeletal system	114803	MYSM1	ORPHA:508542
HP:0033127	Abnormality of the musculoskeletal system	356	FASLG	ORPHA:3261
HP:0033127	Abnormality of the musculoskeletal system	843	CASP10	ORPHA:3261
HP:0033127	Abnormality of the musculoskeletal system	84868	HAVCR2	OMIM:618398
HP:0033127	Abnormality of the musculoskeletal system	84868	HAVCR2	ORPHA:86884
HP:0033127	Abnormality of the musculoskeletal system	139818	DOCK11	OMIM:301109
HP:0033127	Abnormality of the musculoskeletal system	3932	LCK	OMIM:615758
HP:0033127	Abnormality of the musculoskeletal system	5265	SERPINA1	ORPHA:60
HP:0033127	Abnormality of the musculoskeletal system	2313	FLI1	ORPHA:370348
HP:0033127	Abnormality of the musculoskeletal system	5654	HTRA1	ORPHA:199354
HP:0033127	Abnormality of the musculoskeletal system	4311	MME	OMIM:617018
HP:0033127	Abnormality of the musculoskeletal system	341208	HEPHL1	OMIM:261990
HP:0033127	Abnormality of the musculoskeletal system	91662	NLRP12	OMIM:611762
HP:0033127	Abnormality of the musculoskeletal system	54	ACP5	ORPHA:1855
HP:0033127	Abnormality of the musculoskeletal system	64208	POPDC3	OMIM:618848
HP:0033127	Abnormality of the musculoskeletal system	84466	MEGF10	OMIM:620249
HP:0033127	Abnormality of the musculoskeletal system	8087	FXR1	OMIM:618823
HP:0033127	Abnormality of the musculoskeletal system	23676	SMPX	OMIM:301075
HP:0033127	Abnormality of the musculoskeletal system	5375	PMP2	OMIM:618279
HP:0033127	Abnormality of the musculoskeletal system	79048	SECISBP2	ORPHA:171706
HP:0033127	Abnormality of the musculoskeletal system	5813	PURA	ORPHA:438216
HP:0033127	Abnormality of the musculoskeletal system	2592	GALT	ORPHA:79239
HP:0033127	Abnormality of the musculoskeletal system	7317	UBA1	ORPHA:1145
HP:0033127	Abnormality of the musculoskeletal system	6514	SLC2A2	ORPHA:2088
HP:0033127	Abnormality of the musculoskeletal system	7841	MOGS	ORPHA:79330
HP:0033127	Abnormality of the musculoskeletal system	64682	ANAPC1	ORPHA:221008
HP:0033127	Abnormality of the musculoskeletal system	1300	COL10A1	ORPHA:174
HP:0033127	Abnormality of the musculoskeletal system	8838	CCN6	ORPHA:1159
HP:0033127	Abnormality of the musculoskeletal system	54809	SAMD9	OMIM:610455
HP:0033127	Abnormality of the musculoskeletal system	56916	SMARCAD1	OMIM:129200
HP:0033127	Abnormality of the musculoskeletal system	23137	SMC5	OMIM:620185
HP:0033127	Abnormality of the musculoskeletal system	5881	RAC3	OMIM:618577
HP:0033127	Abnormality of the musculoskeletal system	8473	OGT	OMIM:300997
HP:0033127	Abnormality of the musculoskeletal system	84162	BLTP1	OMIM:617822
HP:0033127	Abnormality of the musculoskeletal system	999	CDH1	OMIM:119580
HP:0033127	Abnormality of the musculoskeletal system	23511	NUP188	OMIM:618804
HP:0033127	Abnormality of the musculoskeletal system	11043	MID2	OMIM:300928
HP:0033127	Abnormality of the musculoskeletal system	2892	GRIA3	ORPHA:364028
HP:0033127	Abnormality of the musculoskeletal system	3868	KRT16	ORPHA:2309
HP:0033127	Abnormality of the musculoskeletal system	3872	KRT17	ORPHA:2309
HP:0033127	Abnormality of the musculoskeletal system	3853	KRT6A	ORPHA:2309
HP:0033127	Abnormality of the musculoskeletal system	3854	KRT6B	ORPHA:2309
HP:0033127	Abnormality of the musculoskeletal system	387733	IFITM5	OMIM:610967
HP:0033127	Abnormality of the musculoskeletal system	7319	UBE2A	ORPHA:163956
HP:0033127	Abnormality of the musculoskeletal system	2263	FGFR2	ORPHA:313855
HP:0033127	Abnormality of the musculoskeletal system	55553	SOX6	OMIM:618971
HP:0033127	Abnormality of the musculoskeletal system	4773	NFATC2	OMIM:620232
HP:0033127	Abnormality of the musculoskeletal system	51651	PTRH2	OMIM:616263
HP:0033127	Abnormality of the musculoskeletal system	51651	PTRH2	ORPHA:456312
HP:0033127	Abnormality of the musculoskeletal system	9555	MACROH2A1	ORPHA:1275
HP:0033127	Abnormality of the musculoskeletal system	23761	PISD	OMIM:618889
HP:0033127	Abnormality of the musculoskeletal system	23586	RIGI	OMIM:616298
HP:0033127	Abnormality of the musculoskeletal system	79813	EHMT1	ORPHA:261652
HP:0033127	Abnormality of the musculoskeletal system	58508	KMT2C	ORPHA:261652
HP:0033127	Abnormality of the musculoskeletal system	8651	SOCS1	OMIM:619375
HP:0033127	Abnormality of the musculoskeletal system	57107	PDSS2	OMIM:614652
HP:0033127	Abnormality of the musculoskeletal system	11340	EXOSC8	OMIM:616081
HP:0033127	Abnormality of the musculoskeletal system	55975	KLHL7	OMIM:617055
HP:0033127	Abnormality of the musculoskeletal system	80347	COASY	OMIM:618266
HP:0033127	Abnormality of the musculoskeletal system	11019	LIAS	OMIM:614462
HP:0033127	Abnormality of the musculoskeletal system	54892	NCAPG2	OMIM:618460
HP:0033127	Abnormality of the musculoskeletal system	23126	POGZ	OMIM:616364
HP:0033127	Abnormality of the musculoskeletal system	51501	HIKESHI	OMIM:616881
HP:0033127	Abnormality of the musculoskeletal system	9255	AIMP1	OMIM:260600
HP:0033127	Abnormality of the musculoskeletal system	83548	COG3	OMIM:620546
HP:0033127	Abnormality of the musculoskeletal system	56270	WDR45B	OMIM:617977
HP:0033127	Abnormality of the musculoskeletal system	1836	SLC26A2	ORPHA:628
HP:0033127	Abnormality of the musculoskeletal system	5111	PCNA	OMIM:615919
HP:0033127	Abnormality of the musculoskeletal system	145258	GSC	OMIM:602471
HP:0033127	Abnormality of the musculoskeletal system	9325	TRIP4	OMIM:617066
HP:0033127	Abnormality of the musculoskeletal system	65993	MRPS34	OMIM:617664
HP:0033127	Abnormality of the musculoskeletal system	55640	FLVCR2	OMIM:225790
HP:0033127	Abnormality of the musculoskeletal system	1644	DDC	ORPHA:35708
HP:0033127	Abnormality of the musculoskeletal system	84340	GFM2	OMIM:618397
HP:0033127	Abnormality of the musculoskeletal system	2893	GRIA4	OMIM:617864
HP:0033127	Abnormality of the musculoskeletal system	10073	SNUPN	OMIM:620793
HP:0033127	Abnormality of the musculoskeletal system	1161	ERCC8	OMIM:216400
HP:0033127	Abnormality of the musculoskeletal system	26092	TOR1AIP1	OMIM:617072
HP:0033127	Abnormality of the musculoskeletal system	2318	FLNC	ORPHA:171445
HP:0033127	Abnormality of the musculoskeletal system	197258	FCSK	OMIM:618324
HP:0033127	Abnormality of the musculoskeletal system	2530	FUT8	OMIM:618005
HP:0033127	Abnormality of the musculoskeletal system	112939	NACC1	OMIM:617393
HP:0033127	Abnormality of the musculoskeletal system	84231	TRAF7	OMIM:618164
HP:0033127	Abnormality of the musculoskeletal system	25885	POLR1A	OMIM:616462
HP:0033127	Abnormality of the musculoskeletal system	1293	COL6A3	OMIM:620726
HP:0033127	Abnormality of the musculoskeletal system	93627	TBCK	OMIM:616900
HP:0033127	Abnormality of the musculoskeletal system	6775	STAT4	OMIM:620443
HP:0033127	Abnormality of the musculoskeletal system	259232	NALCN	OMIM:615419
HP:0033127	Abnormality of the musculoskeletal system	84504	NKX6-2	OMIM:617560
HP:0033127	Abnormality of the musculoskeletal system	633	BGN	OMIM:300989
HP:0033127	Abnormality of the musculoskeletal system	5424	POLD1	OMIM:615381
HP:0033127	Abnormality of the musculoskeletal system	58497	PRUNE1	OMIM:617481
HP:0033127	Abnormality of the musculoskeletal system	55331	ACER3	OMIM:617762
HP:0033127	Abnormality of the musculoskeletal system	523	ATP6V1A	OMIM:617403
HP:0033127	Abnormality of the musculoskeletal system	529	ATP6V1E1	OMIM:617402
HP:0033127	Abnormality of the musculoskeletal system	221927	BRAT1	OMIM:614498
HP:0033127	Abnormality of the musculoskeletal system	171546	SPTSSA	OMIM:620417
HP:0033127	Abnormality of the musculoskeletal system	11160	ERLIN2	OMIM:611225
HP:0033127	Abnormality of the musculoskeletal system	126792	B3GALT6	OMIM:615349
HP:0033127	Abnormality of the musculoskeletal system	23534	TNPO3	OMIM:608423
HP:0033127	Abnormality of the musculoskeletal system	374393	FAM111B	OMIM:615704
HP:0033127	Abnormality of the musculoskeletal system	7273	TTN	OMIM:611705
HP:0033127	Abnormality of the musculoskeletal system	23592	LEMD3	ORPHA:166119
HP:0033127	Abnormality of the musculoskeletal system	8738	CRADD	OMIM:614499
HP:0033127	Abnormality of the musculoskeletal system	84334	COA8	ORPHA:436271
HP:0033127	Abnormality of the musculoskeletal system	10043	TOM1	OMIM:619510
HP:0033127	Abnormality of the musculoskeletal system	137814	NKX2-6	ORPHA:3384
HP:0033127	Abnormality of the musculoskeletal system	64093	SMOC1	ORPHA:1106
HP:0033127	Abnormality of the musculoskeletal system	79639	TMEM53	OMIM:619727
HP:0033127	Abnormality of the musculoskeletal system	161742	SPRED1	ORPHA:137605
HP:0033127	Abnormality of the musculoskeletal system	6916	TBXAS1	OMIM:231095
HP:0033127	Abnormality of the musculoskeletal system	79705	LRRK1	OMIM:615198
HP:0033127	Abnormality of the musculoskeletal system	10283	CWC27	OMIM:250410
HP:0033127	Abnormality of the musculoskeletal system	5324	PLAG1	ORPHA:397590
HP:0033127	Abnormality of the musculoskeletal system	727857	BHLHA9	ORPHA:3329
HP:0033127	Abnormality of the musculoskeletal system	727857	BHLHA9	ORPHA:1986
HP:0033127	Abnormality of the musculoskeletal system	10054	UBA2	OMIM:619959
HP:0033127	Abnormality of the musculoskeletal system	1749	DLX5	OMIM:183600
HP:0033127	Abnormality of the musculoskeletal system	9371	KIF3B	OMIM:618955
HP:0033127	Abnormality of the musculoskeletal system	286204	CRB2	OMIM:219730
HP:0033127	Abnormality of the musculoskeletal system	3949	LDLR	ORPHA:391665
HP:0033127	Abnormality of the musculoskeletal system	255738	PCSK9	ORPHA:391665
HP:0033127	Abnormality of the musculoskeletal system	26119	LDLRAP1	ORPHA:391665
HP:0033127	Abnormality of the musculoskeletal system	338	APOB	ORPHA:391665
HP:0033127	Abnormality of the musculoskeletal system	64240	ABCG5	ORPHA:391665
HP:0033127	Abnormality of the musculoskeletal system	64241	ABCG8	ORPHA:391665
HP:0033127	Abnormality of the musculoskeletal system	57704	GBA2	ORPHA:320391
HP:0033127	Abnormality of the musculoskeletal system	776	CACNA1D	ORPHA:369929
HP:0033127	Abnormality of the musculoskeletal system	7058	THBS2	OMIM:620865
HP:0033127	Abnormality of the musculoskeletal system	11117	EMILIN1	OMIM:620080
HP:0033127	Abnormality of the musculoskeletal system	79827	CLMP	ORPHA:2301
HP:0033127	Abnormality of the musculoskeletal system	5692	PSMB4	OMIM:617591
HP:0033127	Abnormality of the musculoskeletal system	5777	PTPN6	ORPHA:3243
HP:0033127	Abnormality of the musculoskeletal system	10092	ARPC5	OMIM:620565
HP:0033127	Abnormality of the musculoskeletal system	5698	PSMB9	OMIM:620796
HP:0033127	Abnormality of the musculoskeletal system	9051	PSTPIP1	OMIM:604416
HP:0033127	Abnormality of the musculoskeletal system	5251	PHEX	ORPHA:89936
HP:0033127	Abnormality of the musculoskeletal system	5993	RFX5	OMIM:620816
HP:0033127	Abnormality of the musculoskeletal system	9780	PIEZO1	OMIM:616843
HP:0033127	Abnormality of the musculoskeletal system	9780	PIEZO1	ORPHA:79452
HP:0033127	Abnormality of the musculoskeletal system	4688	NCF2	OMIM:233710
HP:0033127	Abnormality of the musculoskeletal system	5880	RAC2	OMIM:618986
HP:0033127	Abnormality of the musculoskeletal system	3570	IL6R	OMIM:618944
HP:0033127	Abnormality of the musculoskeletal system	85358	SHANK3	OMIM:606232
HP:0033127	Abnormality of the musculoskeletal system	55343	SLC35C1	OMIM:266265
HP:0033127	Abnormality of the musculoskeletal system	10559	SLC35A1	ORPHA:238459
HP:0033127	Abnormality of the musculoskeletal system	2324	FLT4	OMIM:153100
HP:0033127	Abnormality of the musculoskeletal system	2324	FLT4	ORPHA:79452
HP:0033127	Abnormality of the musculoskeletal system	2624	GATA2	OMIM:614038
HP:0033127	Abnormality of the musculoskeletal system	3832	KIF11	ORPHA:2526
HP:0033127	Abnormality of the musculoskeletal system	1277	COL1A1	ORPHA:1310
HP:0033127	Abnormality of the musculoskeletal system	5336	PLCG2	OMIM:614878
HP:0033127	Abnormality of the musculoskeletal system	285	ANGPT2	ORPHA:79452
HP:0033127	Abnormality of the musculoskeletal system	57165	GJC2	ORPHA:79452
HP:0033127	Abnormality of the musculoskeletal system	57165	GJC2	OMIM:613480
HP:0033127	Abnormality of the musculoskeletal system	7132	TNFRSF1A	ORPHA:32960
HP:0033127	Abnormality of the musculoskeletal system	1991	ELANE	ORPHA:2686
HP:0033127	Abnormality of the musculoskeletal system	1991	ELANE	ORPHA:486
HP:0033127	Abnormality of the musculoskeletal system	695	BTK	ORPHA:47
HP:0033127	Abnormality of the musculoskeletal system	165	AEBP1	OMIM:618000
HP:0033127	Abnormality of the musculoskeletal system	165	AEBP1	ORPHA:536532
HP:0033127	Abnormality of the musculoskeletal system	6774	STAT3	ORPHA:2314
HP:0033127	Abnormality of the musculoskeletal system	1535	CYBA	OMIM:233690
HP:0033127	Abnormality of the musculoskeletal system	10095	ARPC1B	OMIM:617718
HP:0033127	Abnormality of the musculoskeletal system	2050	EPHB4	ORPHA:90186
HP:0033127	Abnormality of the musculoskeletal system	10312	TCIRG1	ORPHA:486
HP:0033127	Abnormality of the musculoskeletal system	6728	SRP19	ORPHA:486
HP:0033127	Abnormality of the musculoskeletal system	2672	GFI1	ORPHA:486
HP:0033127	Abnormality of the musculoskeletal system	81570	CLPB	ORPHA:486
HP:0033127	Abnormality of the musculoskeletal system	1536	CYBB	OMIM:306400
HP:0033127	Abnormality of the musculoskeletal system	219972	MPEG1	OMIM:619223
HP:0033127	Abnormality of the musculoskeletal system	7852	CXCR4	ORPHA:51636
HP:0033127	Abnormality of the musculoskeletal system	653361	NCF1	OMIM:233700
HP:0033127	Abnormality of the musculoskeletal system	3559	IL2RA	OMIM:606367
HP:0033127	Abnormality of the musculoskeletal system	6929	TCF3	ORPHA:33110
HP:0033127	Abnormality of the musculoskeletal system	7922	SLC39A7	ORPHA:33110
HP:0033127	Abnormality of the musculoskeletal system	973	CD79A	ORPHA:33110
HP:0033127	Abnormality of the musculoskeletal system	974	CD79B	ORPHA:33110
HP:0033127	Abnormality of the musculoskeletal system	6688	SPI1	ORPHA:33110
HP:0033127	Abnormality of the musculoskeletal system	3543	IGLL1	ORPHA:33110
HP:0033127	Abnormality of the musculoskeletal system	3507	IGHM	ORPHA:33110
HP:0033127	Abnormality of the musculoskeletal system	29760	BLNK	ORPHA:33110
HP:0033127	Abnormality of the musculoskeletal system	5295	PIK3R1	ORPHA:33110
HP:0033127	Abnormality of the musculoskeletal system	56262	LRRC8A	ORPHA:33110
HP:0033127	Abnormality of the musculoskeletal system	7424	VEGFC	OMIM:615907
HP:0033127	Abnormality of the musculoskeletal system	5331	PLCB3	OMIM:618961
HP:0033127	Abnormality of the musculoskeletal system	8312	AXIN1	OMIM:620558
HP:0033127	Abnormality of the musculoskeletal system	1893	ECM1	ORPHA:530
HP:0033127	Abnormality of the musculoskeletal system	1893	ECM1	OMIM:247100
HP:0033127	Abnormality of the musculoskeletal system	538	ATP7A	ORPHA:198
HP:0033127	Abnormality of the musculoskeletal system	5317	PKP1	ORPHA:158668
HP:0033127	Abnormality of the musculoskeletal system	57282	SLC4A10	OMIM:620746
HP:0033127	Abnormality of the musculoskeletal system	340665	CYP26C1	ORPHA:398189
HP:0033127	Abnormality of the musculoskeletal system	9719	ADAMTSL2	ORPHA:1901
HP:0033127	Abnormality of the musculoskeletal system	9509	ADAMTS2	ORPHA:1901
HP:0033127	Abnormality of the musculoskeletal system	5498	PPOX	OMIM:620483
HP:0033127	Abnormality of the musculoskeletal system	5498	PPOX	ORPHA:79473
HP:0033127	Abnormality of the musculoskeletal system	2072	ERCC4	ORPHA:90321
HP:0033127	Abnormality of the musculoskeletal system	2074	ERCC6	ORPHA:90321
HP:0033127	Abnormality of the musculoskeletal system	2074	ERCC6	ORPHA:90322
HP:0033127	Abnormality of the musculoskeletal system	7389	UROD	ORPHA:95159
HP:0033127	Abnormality of the musculoskeletal system	2067	ERCC1	ORPHA:90322
HP:0033127	Abnormality of the musculoskeletal system	113189	CHST14	OMIM:601776
HP:0033127	Abnormality of the musculoskeletal system	1294	COL7A1	ORPHA:89843
HP:0033127	Abnormality of the musculoskeletal system	30008	EFEMP2	OMIM:614437
HP:0033127	Abnormality of the musculoskeletal system	4878	NPPA	OMIM:615745
HP:0033127	Abnormality of the musculoskeletal system	8517	IKBKG	OMIM:308300
HP:0033127	Abnormality of the musculoskeletal system	3852	KRT5	ORPHA:79396
HP:0033127	Abnormality of the musculoskeletal system	3861	KRT14	ORPHA:79396
HP:0033127	Abnormality of the musculoskeletal system	1278	COL1A2	ORPHA:1899
HP:0033127	Abnormality of the musculoskeletal system	3071	NCKAP1L	OMIM:618982
HP:0033127	Abnormality of the musculoskeletal system	729238	SFTPA2	ORPHA:2032
HP:0033127	Abnormality of the musculoskeletal system	729238	SFTPA2	OMIM:178500
HP:0033127	Abnormality of the musculoskeletal system	727897	MUC5B	ORPHA:2032
HP:0033127	Abnormality of the musculoskeletal system	727897	MUC5B	OMIM:178500
HP:0033127	Abnormality of the musculoskeletal system	10144	FAM13A	ORPHA:2032
HP:0033127	Abnormality of the musculoskeletal system	440275	EIF2AK4	ORPHA:199241
HP:0033127	Abnormality of the musculoskeletal system	10125	RASGRP1	OMIM:618534
HP:0033127	Abnormality of the musculoskeletal system	59067	IL21	OMIM:615767
HP:0033127	Abnormality of the musculoskeletal system	7092	TLL1	ORPHA:99106
HP:0033127	Abnormality of the musculoskeletal system	79651	RHBDF2	ORPHA:2198
HP:0033127	Abnormality of the musculoskeletal system	2591	GALNT3	OMIM:211900
HP:0033127	Abnormality of the musculoskeletal system	7456	WIPF1	ORPHA:906
HP:0033127	Abnormality of the musculoskeletal system	2776	GNAQ	ORPHA:3205
HP:0033127	Abnormality of the musculoskeletal system	60529	ALX4	ORPHA:52022
HP:0033127	Abnormality of the musculoskeletal system	51317	PHF21A	ORPHA:52022
HP:0033127	Abnormality of the musculoskeletal system	6473	SHOX	ORPHA:240
HP:0033127	Abnormality of the musculoskeletal system	375	ARF1	ORPHA:98892
HP:0033127	Abnormality of the musculoskeletal system	4131	MAP1B	ORPHA:98892
HP:0033127	Abnormality of the musculoskeletal system	2316	FLNA	ORPHA:98892
HP:0033127	Abnormality of the musculoskeletal system	2316	FLNA	ORPHA:75497
HP:0033127	Abnormality of the musculoskeletal system	23327	NEDD4L	ORPHA:98892
HP:0033127	Abnormality of the musculoskeletal system	160418	TMTC3	ORPHA:98892
HP:0033127	Abnormality of the musculoskeletal system	10564	ARFGEF2	ORPHA:98892
HP:0033127	Abnormality of the musculoskeletal system	55780	ERMARD	ORPHA:98892
HP:0033127	Abnormality of the musculoskeletal system	875	CBS	ORPHA:394
HP:0033127	Abnormality of the musculoskeletal system	2517	FUCA1	OMIM:230000
HP:0033127	Abnormality of the musculoskeletal system	2627	GATA6	ORPHA:2255
HP:0033127	Abnormality of the musculoskeletal system	5832	ALDH18A1	OMIM:616603
HP:0033127	Abnormality of the musculoskeletal system	5832	ALDH18A1	ORPHA:90348
HP:0033127	Abnormality of the musculoskeletal system	6595	SMARCA2	ORPHA:3051
HP:0033127	Abnormality of the musculoskeletal system	54499	TMCO1	ORPHA:1394
HP:0033127	Abnormality of the musculoskeletal system	4758	NEU1	ORPHA:812
HP:0033127	Abnormality of the musculoskeletal system	11107	PRDM5	ORPHA:90354
HP:0033127	Abnormality of the musculoskeletal system	84627	ZNF469	ORPHA:90354
HP:0033127	Abnormality of the musculoskeletal system	65082	VPS33A	ORPHA:505248
HP:0033127	Abnormality of the musculoskeletal system	1290	COL5A2	OMIM:130010
HP:0033127	Abnormality of the musculoskeletal system	55033	FKBP14	ORPHA:300179
HP:0033127	Abnormality of the musculoskeletal system	6597	SMARCA4	ORPHA:1465
HP:0033127	Abnormality of the musculoskeletal system	6598	SMARCB1	ORPHA:1465
HP:0033127	Abnormality of the musculoskeletal system	6659	SOX4	ORPHA:1465
HP:0033127	Abnormality of the musculoskeletal system	8289	ARID1A	ORPHA:1465
HP:0033127	Abnormality of the musculoskeletal system	5977	DPF2	ORPHA:1465
HP:0033127	Abnormality of the musculoskeletal system	6601	SMARCC2	ORPHA:1465
HP:0033127	Abnormality of the musculoskeletal system	6602	SMARCD1	ORPHA:1465
HP:0033127	Abnormality of the musculoskeletal system	57492	ARID1B	ORPHA:1465
HP:0033127	Abnormality of the musculoskeletal system	196528	ARID2	ORPHA:1465
HP:0033127	Abnormality of the musculoskeletal system	6605	SMARCE1	ORPHA:1465
HP:0033127	Abnormality of the musculoskeletal system	6664	SOX11	ORPHA:1465
HP:0033127	Abnormality of the musculoskeletal system	10516	FBLN5	ORPHA:90348
HP:0033127	Abnormality of the musculoskeletal system	10516	FBLN5	ORPHA:90349
HP:0033127	Abnormality of the musculoskeletal system	4052	LTBP1	ORPHA:90349
HP:0033127	Abnormality of the musculoskeletal system	92344	GORAB	ORPHA:2078
HP:0033127	Abnormality of the musculoskeletal system	5831	PYCR1	ORPHA:2078
HP:0033127	Abnormality of the musculoskeletal system	138050	HGSNAT	OMIM:252930
HP:0033127	Abnormality of the musculoskeletal system	2743	GLRB	ORPHA:3197
HP:0033127	Abnormality of the musculoskeletal system	2741	GLRA1	ORPHA:3197
HP:0033127	Abnormality of the musculoskeletal system	10243	GPHN	ORPHA:3197
HP:0033127	Abnormality of the musculoskeletal system	84896	ATAD1	ORPHA:3197
HP:0033127	Abnormality of the musculoskeletal system	9152	SLC6A5	ORPHA:3197
HP:0033127	Abnormality of the musculoskeletal system	10815	CPLX1	ORPHA:280
HP:0033127	Abnormality of the musculoskeletal system	54872	PIGG	ORPHA:280
HP:0033127	Abnormality of the musculoskeletal system	7469	NELFA	ORPHA:280
HP:0033127	Abnormality of the musculoskeletal system	1487	CTBP1	ORPHA:280
HP:0033127	Abnormality of the musculoskeletal system	3954	LETM1	ORPHA:280
HP:0033127	Abnormality of the musculoskeletal system	7468	NSD2	ORPHA:280
HP:0033127	Abnormality of the musculoskeletal system	10082	GPC6	ORPHA:93329
HP:0033127	Abnormality of the musculoskeletal system	175	AGA	OMIM:208400
HP:0033127	Abnormality of the musculoskeletal system	55315	SLC29A3	ORPHA:168569
HP:0033127	Abnormality of the musculoskeletal system	4853	NOTCH2	ORPHA:955
HP:0033127	Abnormality of the musculoskeletal system	22861	NLRP1	OMIM:618803
HP:0033127	Abnormality of the musculoskeletal system	92255	LMBRD2	OMIM:619694
HP:0033127	Abnormality of the musculoskeletal system	865	CBFB	OMIM:620099
HP:0033127	Abnormality of the musculoskeletal system	388662	SLC6A17	OMIM:616269
HP:0033127	Abnormality of the musculoskeletal system	3105	HLA-A	ORPHA:179
HP:0033127	Abnormality of the musculoskeletal system	3426	CFI	OMIM:615439
HP:0033127	Abnormality of the musculoskeletal system	6452	SH3BP2	OMIM:118400
HP:0033127	Abnormality of the musculoskeletal system	64802	NMNAT1	OMIM:608553
HP:0033127	Abnormality of the musculoskeletal system	55159	RFWD3	OMIM:617784
HP:0033127	Abnormality of the musculoskeletal system	8313	AXIN2	ORPHA:401911
HP:0033127	Abnormality of the musculoskeletal system	207	AKT1	OMIM:176920
HP:0033128	Delayed ability to crawl	5934	RBL2	OMIM:619690
HP:0033128	Delayed ability to crawl	80055	PGAP1	OMIM:615802
HP:0033128	Delayed ability to crawl	3097	HIVEP2	OMIM:616977
HP:0033128	Delayed ability to crawl	3708	ITPR1	OMIM:117360
HP:0033128	Delayed ability to crawl	4191	MDH2	OMIM:617339
HP:0033128	Delayed ability to crawl	64432	MRPS25	OMIM:619025
HP:0033128	Delayed ability to crawl	1499	CTNNB1	OMIM:615075
HP:0033128	Delayed ability to crawl	6651	SON	OMIM:617140
HP:0033128	Delayed ability to crawl	10659	CELF2	OMIM:619561
HP:0033129	Abnormal shoulder physiology	1311	COMP	OMIM:177170
HP:0033129	Abnormal shoulder physiology	79158	GNPTAB	ORPHA:576
HP:0033129	Abnormal shoulder physiology	4000	LMNA	ORPHA:740
HP:0033129	Abnormal shoulder physiology	10269	ZMPSTE24	ORPHA:740
HP:0033129	Abnormal shoulder physiology	9401	RECQL4	OMIM:218600
HP:0033129	Abnormal shoulder physiology	55906	ZC4H2	OMIM:301041
HP:0033129	Abnormal shoulder physiology	6399	TRAPPC2	ORPHA:93284
HP:0033129	Abnormal shoulder physiology	9427	ECEL1	OMIM:615065
HP:0033129	Abnormal shoulder physiology	91461	PKDCC	OMIM:618821
HP:0033129	Abnormal shoulder physiology	3081	HGD	OMIM:203500
HP:0033129	Abnormal shoulder physiology	6442	SGCA	ORPHA:62
HP:0033129	Abnormal shoulder physiology	10020	GNE	ORPHA:602
HP:0033129	Abnormal shoulder physiology	2200	FBN1	OMIM:184900
HP:0033129	Abnormal shoulder physiology	7169	TPM2	OMIM:108120
HP:0033130	Abnormal renal echogenicity	7369	UMOD	OMIM:162000
HP:0033130	Abnormal renal echogenicity	5972	REN	OMIM:613092
HP:0033130	Abnormal renal echogenicity	79989	IFT56	OMIM:619534
HP:0033130	Abnormal renal echogenicity	5314	PKHD1	OMIM:263200
HP:0033130	Abnormal renal echogenicity	57545	CC2D2A	OMIM:619111
HP:0033130	Abnormal renal echogenicity	54914	FOCAD	OMIM:619991
HP:0033130	Abnormal renal echogenicity	10463	SLC30A9	OMIM:617595
HP:0033130	Abnormal renal echogenicity	7468	NSD2	OMIM:619695
HP:0033130	Abnormal renal echogenicity	29927	SEC61A1	OMIM:617056
HP:0033130	Abnormal renal echogenicity	284086	NEK8	OMIM:620903
HP:0033130	Abnormal renal echogenicity	199221	DZIP1L	OMIM:617610
HP:0033130	Abnormal renal echogenicity	79848	CSPP1	OMIM:615636
HP:0033130	Abnormal renal echogenicity	79848	CSPP1	ORPHA:397715
HP:0033130	Abnormal renal echogenicity	9928	KIF14	OMIM:617914
HP:0033130	Abnormal renal echogenicity	63929	XPNPEP3	OMIM:613159
HP:0033130	Abnormal renal echogenicity	6091	ROBO1	OMIM:620305
HP:0033130	Abnormal renal echogenicity	10015	PDCD6IP	OMIM:620047
HP:0033130	Abnormal renal echogenicity	3913	LAMB2	OMIM:609049
HP:0033130	Abnormal renal echogenicity	84992	PIGY	OMIM:616809
HP:0033130	Abnormal renal echogenicity	286204	CRB2	OMIM:219730
HP:0033130	Abnormal renal echogenicity	81	ACTN4	OMIM:603278
HP:0033130	Abnormal renal echogenicity	9786	KIAA0586	ORPHA:397715
HP:0033130	Abnormal renal echogenicity	80114	BICC1	OMIM:601331
HP:0033130	Abnormal renal echogenicity	29071	C1GALT1C1	OMIM:301110
HP:0033130	Abnormal renal echogenicity	100147744	RNU7-1	OMIM:619487
HP:0033130	Abnormal renal echogenicity	5087	PBX1	OMIM:617641
HP:0033130	Abnormal renal echogenicity	112752	IFT43	OMIM:617866
HP:0033130	Abnormal renal echogenicity	57511	COG6	OMIM:614576
HP:0033130	Abnormal renal echogenicity	7289	TULP3	OMIM:619902
HP:0033130	Abnormal renal echogenicity	22858	CILK1	OMIM:612651
HP:0033130	Abnormal renal echogenicity	51473	DCDC2	ORPHA:84081
HP:0033130	Abnormal renal echogenicity	51473	DCDC2	OMIM:616217
HP:0033130	Abnormal renal echogenicity	91147	TMEM67	ORPHA:84081
HP:0033130	Abnormal renal echogenicity	79867	TCTN2	OMIM:613885
HP:0033130	Abnormal renal echogenicity	9096	TBX18	OMIM:143400
HP:0033130	Abnormal renal echogenicity	54938	SARS2	OMIM:613845
HP:0033130	Abnormal renal echogenicity	27130	INVS	OMIM:602088
HP:0033130	Abnormal renal echogenicity	93649	MYOCD	OMIM:618719
HP:0033130	Abnormal renal echogenicity	9231	DLG5	OMIM:620703
HP:0033130	Abnormal renal echogenicity	116085	SLC22A12	OMIM:220150
HP:0033130	Abnormal renal echogenicity	23500	DAAM2	OMIM:619263
HP:0033130	Abnormal renal echogenicity	4629	MYH11	OMIM:619351
HP:0033132	Renal cortical hyperechogenicity	9231	DLG5	OMIM:620703
HP:0033132	Renal cortical hyperechogenicity	116085	SLC22A12	OMIM:220150
HP:0033132	Renal cortical hyperechogenicity	23500	DAAM2	OMIM:619263
HP:0033132	Renal cortical hyperechogenicity	4629	MYH11	OMIM:619351
HP:0033134	Abdominal adhesions	404672	GTF2H5	OMIM:616395
HP:0033137	Abnormal pulmonary alveolar system morphology	10568	SLC34A2	OMIM:265100
HP:0033137	Abnormal pulmonary alveolar system morphology	2294	FOXF1	OMIM:265380
HP:0033137	Abnormal pulmonary alveolar system morphology	64220	STRA6	OMIM:601186
HP:0033137	Abnormal pulmonary alveolar system morphology	6440	SFTPC	OMIM:610913
HP:0033137	Abnormal pulmonary alveolar system morphology	8085	KMT2D	OMIM:147920
HP:0033137	Abnormal pulmonary alveolar system morphology	7403	KDM6A	OMIM:147920
HP:0033137	Abnormal pulmonary alveolar system morphology	60558	GUF1	OMIM:617065
HP:0033137	Abnormal pulmonary alveolar system morphology	826	CAPNS1	OMIM:620777
HP:0012300	Ureteral agenesis	23426	GRIP1	OMIM:617667
HP:0012300	Ureteral agenesis	341640	FREM2	OMIM:617666
HP:0012300	Ureteral agenesis	9928	KIF14	OMIM:617914
HP:0012300	Ureteral agenesis	55165	CEP55	OMIM:236500
HP:0012301	Type II transferrin isoform profile	10159	ATP6AP2	OMIM:301045
HP:0012301	Type II transferrin isoform profile	25839	COG4	ORPHA:263501
HP:0012301	Type II transferrin isoform profile	25839	COG4	OMIM:613489
HP:0012301	Type II transferrin isoform profile	91949	COG7	OMIM:608779
HP:0012301	Type II transferrin isoform profile	91949	COG7	ORPHA:79333
HP:0012301	Type II transferrin isoform profile	11253	MAN1B1	ORPHA:397941
HP:0012301	Type II transferrin isoform profile	84342	COG8	OMIM:611182
HP:0012301	Type II transferrin isoform profile	537	ATP6AP1	OMIM:300972
HP:0012301	Type II transferrin isoform profile	57511	COG6	OMIM:614576
HP:0012301	Type II transferrin isoform profile	529	ATP6V1E1	OMIM:617402
HP:0012301	Type II transferrin isoform profile	2542	SLC37A4	OMIM:619525
HP:0012301	Type II transferrin isoform profile	10466	COG5	OMIM:613612
HP:0012301	Type II transferrin isoform profile	147007	TMEM199	OMIM:616829
HP:0012301	Type II transferrin isoform profile	819	CAMLG	OMIM:620201
HP:0012301	Type II transferrin isoform profile	64116	SLC39A8	ORPHA:468699
HP:0012301	Type II transferrin isoform profile	4247	MGAT2	OMIM:212066
HP:0012301	Type II transferrin isoform profile	2683	B4GALT1	ORPHA:79332
HP:0012301	Type II transferrin isoform profile	51608	GET4	OMIM:620200
HP:0012301	Type II transferrin isoform profile	9382	COG1	OMIM:611209
HP:0012301	Type II transferrin isoform profile	9382	COG1	ORPHA:263508
HP:0012303	Abnormal aortic arch morphology	78987	CRELD1	OMIM:606217
HP:0012303	Abnormal aortic arch morphology	64220	STRA6	OMIM:601186
HP:0012303	Abnormal aortic arch morphology	2737	GLI3	OMIM:146510
HP:0012303	Abnormal aortic arch morphology	5745	PTH1R	OMIM:215045
HP:0012303	Abnormal aortic arch morphology	2033	EP300	OMIM:180849
HP:0012303	Abnormal aortic arch morphology	2033	EP300	ORPHA:353284
HP:0012303	Abnormal aortic arch morphology	1387	CREBBP	OMIM:180849
HP:0012303	Abnormal aortic arch morphology	1387	CREBBP	ORPHA:353277
HP:0012303	Abnormal aortic arch morphology	1387	CREBBP	ORPHA:353281
HP:0012303	Abnormal aortic arch morphology	5296	PIK3R2	OMIM:603387
HP:0012303	Abnormal aortic arch morphology	9894	TELO2	OMIM:616954
HP:0012303	Abnormal aortic arch morphology	10526	IPO8	OMIM:619472
HP:0012303	Abnormal aortic arch morphology	2629	GBA1	OMIM:230900
HP:0012303	Abnormal aortic arch morphology	2324	FLT4	OMIM:618780
HP:0012303	Abnormal aortic arch morphology	5337	PLD1	OMIM:212093
HP:0012303	Abnormal aortic arch morphology	2627	GATA6	OMIM:600001
HP:0012303	Abnormal aortic arch morphology	2627	GATA6	ORPHA:2255
HP:0012303	Abnormal aortic arch morphology	745	MYRF	OMIM:618280
HP:0012303	Abnormal aortic arch morphology	129563	DIS3L2	OMIM:267000
HP:0012303	Abnormal aortic arch morphology	2294	FOXF1	OMIM:265380
HP:0012303	Abnormal aortic arch morphology	4613	MYCN	ORPHA:391641
HP:0012303	Abnormal aortic arch morphology	4613	MYCN	OMIM:164280
HP:0012303	Abnormal aortic arch morphology	137814	NKX2-6	ORPHA:3384
HP:0012303	Abnormal aortic arch morphology	23129	PLXND1	ORPHA:3384
HP:0012303	Abnormal aortic arch morphology	8802	SUCLG1	ORPHA:17
HP:0012303	Abnormal aortic arch morphology	56006	SMG9	OMIM:616920
HP:0012303	Abnormal aortic arch morphology	54916	TMEM260	OMIM:617478
HP:0012303	Abnormal aortic arch morphology	2260	FGFR1	ORPHA:2396
HP:0012303	Abnormal aortic arch morphology	3845	KRAS	ORPHA:2396
HP:0012303	Abnormal aortic arch morphology	54487	DGCR8	OMIM:192430
HP:0012303	Abnormal aortic arch morphology	8214	DGCR6	OMIM:192430
HP:0012303	Abnormal aortic arch morphology	8220	ESS2	OMIM:192430
HP:0012303	Abnormal aortic arch morphology	9993	DGCR2	OMIM:192430
HP:0012303	Abnormal aortic arch morphology	118856	MMP21	OMIM:616749
HP:0012303	Abnormal aortic arch morphology	55636	CHD7	ORPHA:138
HP:0012303	Abnormal aortic arch morphology	9723	SEMA3E	ORPHA:138
HP:0012303	Abnormal aortic arch morphology	8085	KMT2D	OMIM:147920
HP:0012303	Abnormal aortic arch morphology	7403	KDM6A	OMIM:147920
HP:0012303	Abnormal aortic arch morphology	7490	WT1	OMIM:608978
HP:0012303	Abnormal aortic arch morphology	1770	DNAH9	OMIM:618300
HP:0012303	Abnormal aortic arch morphology	79989	IFT56	OMIM:619534
HP:0012303	Abnormal aortic arch morphology	25981	DNAH1	OMIM:617577
HP:0012303	Abnormal aortic arch morphology	93	ACVR2B	OMIM:613751
HP:0012303	Abnormal aortic arch morphology	80232	WDR26	OMIM:617616
HP:0012303	Abnormal aortic arch morphology	80232	WDR26	ORPHA:513456
HP:0012303	Abnormal aortic arch morphology	93627	TBCK	OMIM:616900
HP:0012303	Abnormal aortic arch morphology	2657	GDF1	OMIM:613854
HP:0012303	Abnormal aortic arch morphology	10992	SF3B2	OMIM:164210
HP:0012303	Abnormal aortic arch morphology	79645	CLXN	OMIM:620642
HP:0012303	Abnormal aortic arch morphology	9203	ZMYM3	OMIM:301111
HP:0012303	Abnormal aortic arch morphology	168507	PKD1L1	OMIM:617205
HP:0012303	Abnormal aortic arch morphology	220136	CFAP53	OMIM:614779
HP:0012303	Abnormal aortic arch morphology	23556	PIGN	ORPHA:2059
HP:0012303	Abnormal aortic arch morphology	55784	MCTP2	ORPHA:1596
HP:0012303	Abnormal aortic arch morphology	388015	RTL1	ORPHA:96334
HP:0012303	Abnormal aortic arch morphology	8788	DLK1	ORPHA:96334
HP:0012303	Abnormal aortic arch morphology	55384	MEG3	ORPHA:96334
HP:0012303	Abnormal aortic arch morphology	1312	COMT	ORPHA:567
HP:0012303	Abnormal aortic arch morphology	221037	JMJD1C	ORPHA:567
HP:0012303	Abnormal aortic arch morphology	2812	GP1BB	ORPHA:567
HP:0012303	Abnormal aortic arch morphology	6239	RREB1	ORPHA:567
HP:0012303	Abnormal aortic arch morphology	6899	TBX1	ORPHA:567
HP:0012303	Abnormal aortic arch morphology	7290	HIRA	ORPHA:567
HP:0012303	Abnormal aortic arch morphology	9632	SEC24C	ORPHA:567
HP:0012303	Abnormal aortic arch morphology	7353	UFD1	ORPHA:567
HP:0012303	Abnormal aortic arch morphology	421	ARVCF	ORPHA:567
HP:0012303	Abnormal aortic arch morphology	7547	ZIC3	OMIM:306955
HP:0012303	Abnormal aortic arch morphology	22827	PUF60	ORPHA:508488
HP:0012303	Abnormal aortic arch morphology	54880	BCOR	OMIM:300166
HP:0012303	Abnormal aortic arch morphology	6885	MAP3K7	OMIM:157800
HP:0012303	Abnormal aortic arch morphology	2697	GJA1	ORPHA:2248
HP:0012303	Abnormal aortic arch morphology	1482	NKX2-5	ORPHA:2248
HP:0012303	Abnormal aortic arch morphology	5500	PPP1CB	OMIM:617506
HP:0012303	Abnormal aortic arch morphology	2783	GNB2	OMIM:619503
HP:0012303	Abnormal aortic arch morphology	57466	SCAF4	OMIM:620511
HP:0012303	Abnormal aortic arch morphology	100128908	CIROP	OMIM:619702
HP:0012303	Abnormal aortic arch morphology	5518	PPP2R1A	ORPHA:457284
HP:0012303	Abnormal aortic arch morphology	10195	ALG3	ORPHA:79321
HP:0012304	Hypoplastic aortic arch	7547	ZIC3	OMIM:306955
HP:0012304	Hypoplastic aortic arch	22827	PUF60	ORPHA:508488
HP:0012304	Hypoplastic aortic arch	2294	FOXF1	OMIM:265380
HP:0012304	Hypoplastic aortic arch	54880	BCOR	OMIM:300166
HP:0012304	Hypoplastic aortic arch	6885	MAP3K7	OMIM:157800
HP:0012304	Hypoplastic aortic arch	2697	GJA1	ORPHA:2248
HP:0012304	Hypoplastic aortic arch	1482	NKX2-5	ORPHA:2248
HP:0012304	Hypoplastic aortic arch	5500	PPP1CB	OMIM:617506
HP:0012304	Hypoplastic aortic arch	2783	GNB2	OMIM:619503
HP:0012304	Hypoplastic aortic arch	57466	SCAF4	OMIM:620511
HP:0012304	Hypoplastic aortic arch	100128908	CIROP	OMIM:619702
HP:0012304	Hypoplastic aortic arch	5518	PPP2R1A	ORPHA:457284
HP:0012304	Hypoplastic aortic arch	2033	EP300	OMIM:180849
HP:0012304	Hypoplastic aortic arch	1387	CREBBP	OMIM:180849
HP:0012305	Coarctation of the descending aortic arch	2737	GLI3	OMIM:146510
HP:0012305	Coarctation of the descending aortic arch	5745	PTH1R	OMIM:215045
HP:0012305	Coarctation of the descending aortic arch	10195	ALG3	ORPHA:79321
HP:0012306	Abnormal rib ossification	6729	SRP54	OMIM:260400
HP:0012306	Abnormal rib ossification	51119	SBDS	OMIM:260400
HP:0012306	Abnormal rib ossification	134218	DNAJC21	OMIM:260400
HP:0012306	Abnormal rib ossification	168667	BMPER	OMIM:608022
HP:0012306	Abnormal rib ossification	10682	EBP	ORPHA:35173
HP:0012306	Abnormal rib ossification	3930	LBR	OMIM:215140
HP:0012306	Abnormal rib ossification	3930	LBR	ORPHA:1426
HP:0012306	Abnormal rib ossification	1300	COL10A1	ORPHA:174
HP:0012306	Abnormal rib ossification	1836	SLC26A2	OMIM:222600
HP:0012306	Abnormal rib ossification	4256	MGP	OMIM:245150
HP:0012307	Spatulate ribs	1311	COMP	OMIM:177170
HP:0012307	Spatulate ribs	2990	GUSB	OMIM:253220
HP:0012307	Spatulate ribs	153642	ARSK	OMIM:619698
HP:0012307	Spatulate ribs	2720	GLB1	ORPHA:79255
HP:0012308	Decreased circulating complement C9 concentration	735	C9	OMIM:613825
HP:0012309	Cutaneous amyloidosis	9180	OSMR	OMIM:105250
HP:0012309	Cutaneous amyloidosis	335	APOA1	OMIM:620657
HP:0012309	Cutaneous amyloidosis	5422	POLA1	OMIM:301220
HP:0012309	Cutaneous amyloidosis	133396	IL31RA	OMIM:613955
HP:0012309	Cutaneous amyloidosis	567	B2M	ORPHA:314652
HP:0012309	Cutaneous amyloidosis	5979	RET	OMIM:171400
HP:0012309	Cutaneous amyloidosis	22861	NLRP1	OMIM:615225
HP:0033139	Elevated circulating uracil concentration	5009	OTC	OMIM:311250
HP:0033139	Elevated circulating uracil concentration	1807	DPYS	OMIM:222748
HP:0007000	Morning myoclonic jerks	114327	EFHC1	OMIM:254770
HP:0007000	Morning myoclonic jerks	114327	EFHC1	ORPHA:307
HP:0007000	Morning myoclonic jerks	2563	GABRD	ORPHA:307
HP:0007000	Morning myoclonic jerks	1181	CLCN2	ORPHA:307
HP:0007000	Morning myoclonic jerks	2554	GABRA1	ORPHA:307
HP:0007000	Morning myoclonic jerks	3786	KCNQ3	ORPHA:307
HP:0007000	Morning myoclonic jerks	22858	CILK1	ORPHA:307
HP:0007000	Morning myoclonic jerks	8629	JRK	ORPHA:307
HP:0007000	Morning myoclonic jerks	785	CACNB4	ORPHA:307
HP:0007000	Morning myoclonic jerks	785	CACNB4	OMIM:607682
HP:0007000	Morning myoclonic jerks	144165	PRICKLE1	ORPHA:308
HP:0007000	Morning myoclonic jerks	1476	CSTB	ORPHA:308
HP:0007000	Morning myoclonic jerks	950	SCARB2	ORPHA:308
HP:0007001	Loss of Purkinje cells in the cerebellar vermis	283989	TSEN54	OMIM:225753
HP:0007001	Loss of Purkinje cells in the cerebellar vermis	10528	NOP56	ORPHA:276198
HP:0007001	Loss of Purkinje cells in the cerebellar vermis	8913	CACNA1G	OMIM:616795
HP:0007001	Loss of Purkinje cells in the cerebellar vermis	26278	SACS	OMIM:270550
HP:0007001	Loss of Purkinje cells in the cerebellar vermis	6310	ATXN1	ORPHA:98755
HP:0007002	Motor axonal neuropathy	6904	TBCD	ORPHA:496641
HP:0007002	Motor axonal neuropathy	9997	SCO2	OMIM:604377
HP:0007002	Motor axonal neuropathy	3094	HINT1	ORPHA:324442
HP:0007002	Motor axonal neuropathy	5393	EXOSC9	OMIM:618065
HP:0007002	Motor axonal neuropathy	6709	SPTAN1	OMIM:620528
HP:0007002	Motor axonal neuropathy	64856	VWA1	OMIM:619216
HP:0007002	Motor axonal neuropathy	3839	KPNA3	OMIM:620106
HP:0007002	Motor axonal neuropathy	7443	VRK1	OMIM:620542
HP:0007002	Motor axonal neuropathy	57731	SPTBN4	OMIM:617519
HP:0007002	Motor axonal neuropathy	29926	GMPPA	ORPHA:869
HP:0007002	Motor axonal neuropathy	60684	TRAPPC11	ORPHA:869
HP:0007002	Motor axonal neuropathy	8086	AAAS	ORPHA:869
HP:0007002	Motor axonal neuropathy	8086	AAAS	OMIM:231550
HP:0007002	Motor axonal neuropathy	9990	SLC12A6	OMIM:620068
HP:0007002	Motor axonal neuropathy	64837	KLC2	OMIM:609541
HP:0007002	Motor axonal neuropathy	25894	PLEKHG4	ORPHA:98765
HP:0007002	Motor axonal neuropathy	8139	GAN	OMIM:256850
HP:0007002	Motor axonal neuropathy	57599	WDR48	ORPHA:401800
HP:0007002	Motor axonal neuropathy	6687	SPG7	ORPHA:35689
HP:0007002	Motor axonal neuropathy	7504	XK	OMIM:300842
HP:0007002	Motor axonal neuropathy	10908	PNPLA6	ORPHA:139480
HP:0007002	Motor axonal neuropathy	83636	C19orf12	OMIM:614298
HP:0007002	Motor axonal neuropathy	23287	AGTPBP1	OMIM:618276
HP:0007002	Motor axonal neuropathy	80347	COASY	OMIM:615643
HP:0007002	Motor axonal neuropathy	51305	KCNK9	ORPHA:166108
HP:0007002	Motor axonal neuropathy	7453	WARS1	OMIM:617721
HP:0007002	Motor axonal neuropathy	5192	PEX10	OMIM:614871
HP:0007002	Motor axonal neuropathy	5192	PEX10	ORPHA:247815
HP:0007002	Motor axonal neuropathy	9131	AIFM1	OMIM:310490
HP:0007002	Motor axonal neuropathy	22880	MORC2	ORPHA:466768
HP:0007002	Motor axonal neuropathy	3035	HARS1	ORPHA:488333
HP:0007002	Motor axonal neuropathy	4000	LMNA	ORPHA:98856
HP:0007002	Motor axonal neuropathy	26834	RNU4-2	OMIM:620851
HP:0007002	Motor axonal neuropathy	3145	HMBS	ORPHA:79276
HP:0007002	Motor axonal neuropathy	3178	HNRNPA1	ORPHA:52430
HP:0007002	Motor axonal neuropathy	7415	VCP	ORPHA:52430
HP:0007002	Motor axonal neuropathy	3181	HNRNPA2B1	ORPHA:52430
HP:0007002	Motor axonal neuropathy	4976	OPA1	ORPHA:1215
HP:0007002	Motor axonal neuropathy	10558	SPTLC1	ORPHA:36386
HP:0007002	Motor axonal neuropathy	25923	ATL3	ORPHA:36386
HP:0007002	Motor axonal neuropathy	9517	SPTLC2	ORPHA:36386
HP:0007002	Motor axonal neuropathy	51062	ATL1	ORPHA:36386
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3476	IGBP1	OMIM:300472
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3476	IGBP1	ORPHA:52055
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	11113	CIT	OMIM:617090
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	11113	CIT	ORPHA:2512
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7528	YY1	ORPHA:506358
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23141	ANKLE2	OMIM:616681
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23141	ANKLE2	ORPHA:2512
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23019	CNOT1	OMIM:618500
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23019	CNOT1	ORPHA:556955
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1024	CDK8	OMIM:618748
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23556	PIGN	ORPHA:2059
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	81857	MED25	OMIM:616449
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	81857	MED25	ORPHA:464738
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5361	PLXNA1	OMIM:619955
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10992	SF3B2	OMIM:164210
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9839	ZEB2	OMIM:235730
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9839	ZEB2	ORPHA:261552
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9839	ZEB2	ORPHA:261537
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2731	GLDC	OMIM:605899
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3190	HNRNPK	ORPHA:453504
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3190	HNRNPK	ORPHA:352665
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55112	DYNC2I1	ORPHA:93271
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	57560	IFT80	ORPHA:93271
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	57539	WDR35	ORPHA:93271
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79659	DYNC2H1	ORPHA:93271
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79659	DYNC2H1	OMIM:613091
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	89891	DYNC2I2	ORPHA:93271
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4281	MID1	OMIM:300000
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4281	MID1	ORPHA:2745
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51112	TRAPPC12	ORPHA:500144
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51112	TRAPPC12	OMIM:617669
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2073	ERCC5	OMIM:616570
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	116931	MED12L	OMIM:618872
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9578	CDC42BPB	OMIM:619841
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3020	H3-3A	OMIM:619720
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	170302	ARX	OMIM:300004
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	170302	ARX	OMIM:300215
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	170302	ARX	ORPHA:452
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	170302	ARX	ORPHA:2508
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1630	DCC	OMIM:617542
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1630	DCC	ORPHA:238722
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1630	DCC	OMIM:157600
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6576	SLC25A1	OMIM:618197
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4867	NPHP1	ORPHA:220497
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	22858	CILK1	OMIM:612651
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	25914	RTTN	OMIM:614833
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	25914	RTTN	ORPHA:468631
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	80055	PGAP1	OMIM:615802
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	80055	PGAP1	ORPHA:401820
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	84197	POMK	OMIM:615249
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	84197	POMK	ORPHA:899
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	84197	POMK	ORPHA:370959
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10381	TUBB3	OMIM:614039
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10381	TUBB3	OMIM:600638
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	26153	KIF26A	OMIM:620156
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	28514	DLL1	ORPHA:280200
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	28514	DLL1	ORPHA:93926
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	28514	DLL1	ORPHA:93924
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	28514	DLL1	ORPHA:93925
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	28514	DLL1	ORPHA:220386
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2253	FGF8	ORPHA:280200
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2253	FGF8	ORPHA:93926
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2253	FGF8	ORPHA:93924
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2253	FGF8	ORPHA:93925
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2253	FGF8	ORPHA:220386
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6496	SIX3	ORPHA:280200
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6496	SIX3	OMIM:269160
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6496	SIX3	ORPHA:93926
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6496	SIX3	ORPHA:93924
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6496	SIX3	ORPHA:93925
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6496	SIX3	ORPHA:220386
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6496	SIX3	OMIM:157170
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7050	TGIF1	ORPHA:280200
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7050	TGIF1	ORPHA:93926
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7050	TGIF1	ORPHA:93924
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7050	TGIF1	ORPHA:93925
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7050	TGIF1	ORPHA:220386
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4838	NODAL	ORPHA:280200
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4838	NODAL	ORPHA:93926
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4838	NODAL	ORPHA:93924
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4838	NODAL	ORPHA:93925
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4838	NODAL	ORPHA:220386
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6469	SHH	ORPHA:280200
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6469	SHH	ORPHA:93926
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6469	SHH	ORPHA:93924
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6469	SHH	ORPHA:93925
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6469	SHH	ORPHA:220386
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7546	ZIC2	ORPHA:280200
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7546	ZIC2	ORPHA:93926
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7546	ZIC2	ORPHA:93924
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7546	ZIC2	ORPHA:93925
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7546	ZIC2	ORPHA:220386
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2619	GAS1	ORPHA:280200
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2619	GAS1	ORPHA:93926
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2619	GAS1	ORPHA:93924
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2619	GAS1	ORPHA:93925
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2619	GAS1	ORPHA:220386
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	84976	DISP1	ORPHA:280200
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	84976	DISP1	ORPHA:93926
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	84976	DISP1	ORPHA:93924
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	84976	DISP1	ORPHA:93925
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	84976	DISP1	ORPHA:220386
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2736	GLI2	ORPHA:280200
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2736	GLI2	ORPHA:93926
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2736	GLI2	ORPHA:93924
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2736	GLI2	ORPHA:93925
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2736	GLI2	ORPHA:95494
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2736	GLI2	ORPHA:220386
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8928	FOXH1	ORPHA:280200
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8928	FOXH1	ORPHA:93926
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8928	FOXH1	ORPHA:93924
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8928	FOXH1	ORPHA:93925
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8928	FOXH1	ORPHA:220386
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6997	CRIPTO	ORPHA:280200
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6997	CRIPTO	ORPHA:93926
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6997	CRIPTO	ORPHA:93924
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6997	CRIPTO	ORPHA:93925
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6997	CRIPTO	ORPHA:220386
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5727	PTCH1	ORPHA:280200
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5727	PTCH1	ORPHA:93926
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5727	PTCH1	ORPHA:93924
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5727	PTCH1	ORPHA:93925
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5727	PTCH1	OMIM:610828
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5727	PTCH1	ORPHA:220386
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	50937	CDON	ORPHA:280200
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	50937	CDON	ORPHA:93926
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	50937	CDON	ORPHA:93924
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	50937	CDON	ORPHA:93925
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	50937	CDON	OMIM:614226
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	50937	CDON	ORPHA:220386
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2263	FGFR2	ORPHA:87
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2263	FGFR2	OMIM:123790
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2263	FGFR2	OMIM:101200
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	56992	KIF15	ORPHA:261323
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51360	MBTPS2	ORPHA:2273
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	284058	KANSL1	ORPHA:363958
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	284058	KANSL1	ORPHA:363965
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	347733	TUBB2B	ORPHA:300573
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	347733	TUBB2B	OMIM:610031
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1020	CDK5	OMIM:616342
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	83871	RAB34	OMIM:620718
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23522	KAT6B	OMIM:606170
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23522	KAT6B	ORPHA:85201
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5173	PDYN	OMIM:610245
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55681	SCYL2	OMIM:618766
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2018	EMX2	OMIM:269160
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	546	ATRX	ORPHA:847
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7080	NKX2-1	ORPHA:209905
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6597	SMARCA4	OMIM:614609
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6597	SMARCA4	ORPHA:1465
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9401	RECQL4	OMIM:218600
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4524	MTHFR	ORPHA:563612
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	57216	VANGL2	ORPHA:563612
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	171023	ASXL1	ORPHA:97297
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	171023	ASXL1	OMIM:605039
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9896	FIG4	ORPHA:3472
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9896	FIG4	OMIM:216340
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55697	VAC14	ORPHA:3472
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10815	CPLX1	ORPHA:280
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10815	CPLX1	OMIM:194190
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	54872	PIGG	ORPHA:280
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7469	NELFA	ORPHA:280
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1487	CTBP1	ORPHA:280
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1487	CTBP1	OMIM:194190
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3954	LETM1	ORPHA:280
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3954	LETM1	OMIM:194190
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7468	NSD2	ORPHA:280
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7468	NSD2	OMIM:194190
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	22872	SEC31A	OMIM:618651
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	57498	KIDINS220	OMIM:619501
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55012	PPP2R3C	OMIM:618419
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6491	STIL	ORPHA:93926
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6491	STIL	ORPHA:93924
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6491	STIL	ORPHA:93925
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6491	STIL	ORPHA:220386
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6491	STIL	ORPHA:2512
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51021	MRPS16	OMIM:610498
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	11193	WBP4	OMIM:620852
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23007	PLCH1	ORPHA:93925
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10735	STAG2	ORPHA:93925
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10735	STAG2	OMIM:301043
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10735	STAG2	ORPHA:220386
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79731	NARS2	OMIM:616239
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6602	SMARCD1	OMIM:618779
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6602	SMARCD1	ORPHA:1465
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55623	THUMPD1	OMIM:619989
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	53834	FGFRL1	OMIM:194190
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	26227	PHGDH	OMIM:256520
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2074	ERCC6	OMIM:214150
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3192	HNRNPU	ORPHA:238769
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9653	HS2ST1	OMIM:619194
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	129563	DIS3L2	OMIM:267000
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1947	EFNB1	OMIM:304110
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5518	PPP2R1A	OMIM:616362
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5518	PPP2R1A	ORPHA:457284
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1182	CLCN3	OMIM:619512
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23512	SUZ12	OMIM:618786
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6608	SMO	OMIM:601707
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6608	SMO	ORPHA:1553
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	54539	NDUFB11	OMIM:309801
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	54539	NDUFB11	ORPHA:2556
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	54539	NDUFB11	OMIM:300952
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1349	COX7B	OMIM:309801
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1349	COX7B	OMIM:300887
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1349	COX7B	ORPHA:2556
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3052	HCCS	OMIM:309801
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3052	HCCS	ORPHA:2556
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55773	TBC1D23	OMIM:617695
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5626	PROP1	ORPHA:226307
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5626	PROP1	ORPHA:95494
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	89884	LHX4	ORPHA:226307
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	89884	LHX4	ORPHA:95494
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8022	LHX3	ORPHA:226307
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5449	POU1F1	ORPHA:226307
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5449	POU1F1	ORPHA:95494
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8820	HESX1	ORPHA:226307
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8820	HESX1	ORPHA:95494
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8820	HESX1	OMIM:182230
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8820	HESX1	ORPHA:3157
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4519	MT-CYB	ORPHA:137675
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5828	PEX2	OMIM:614866
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5590	PRKCZ	ORPHA:1606
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2563	GABRD	ORPHA:1606
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23013	SPEN	ORPHA:1606
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23013	SPEN	OMIM:619312
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8510	MMP23B	ORPHA:1606
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7798	LUZP1	ORPHA:1606
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6497	SKI	ORPHA:1606
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10630	PDPN	ORPHA:1606
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3339	HSPG2	ORPHA:1606
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10277	UBE4B	ORPHA:1606
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8514	KCNAB2	ORPHA:1606
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	473	RERE	ORPHA:1606
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	63976	PRDM16	ORPHA:1606
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	54897	CASZ1	ORPHA:1606
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	11128	POLR3A	OMIM:264090
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	11128	POLR3A	ORPHA:3455
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6558	SLC12A2	OMIM:619083
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10236	HNRNPR	OMIM:620073
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3170	FOXA2	ORPHA:95494
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5015	OTX2	ORPHA:95494
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5015	OTX2	ORPHA:990
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5015	OTX2	ORPHA:3157
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	83479	DDX59	ORPHA:2919
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	83479	DDX59	OMIM:174300
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	11041	B4GAT1	OMIM:615287
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	11041	B4GAT1	ORPHA:899
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	113179	ADAT3	OMIM:615286
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	113179	ADAT3	ORPHA:363528
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1654	DDX3X	ORPHA:3338
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9928	KIF14	OMIM:616258
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9928	KIF14	OMIM:617914
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9928	KIF14	ORPHA:2512
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79633	FAT4	ORPHA:314679
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8642	DCHS1	ORPHA:314679
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	57492	ARID1B	ORPHA:251056
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	57492	ARID1B	ORPHA:1465
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	57688	ZSWIM6	OMIM:603671
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	57688	ZSWIM6	ORPHA:1827
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7846	TUBA1A	ORPHA:171680
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7846	TUBA1A	OMIM:611603
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2271	FH	OMIM:606812
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	57724	EPG5	OMIM:242840
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	57724	EPG5	ORPHA:1493
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	63895	PIEZO2	OMIM:248700
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	63895	PIEZO2	ORPHA:2461
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2239	GPC4	ORPHA:373
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2239	GPC4	OMIM:312870
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2719	GPC3	ORPHA:373
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2719	GPC3	OMIM:312870
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	197258	FCSK	OMIM:618324
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10463	SLC30A9	OMIM:617595
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8565	YARS1	OMIM:619418
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2678	GGT1	OMIM:231950
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	64919	BCL11B	OMIM:617237
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	11023	VAX1	OMIM:614402
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51645	PPIL1	OMIM:619301
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51362	CDC40	OMIM:619302
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8621	CDK13	OMIM:617360
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5881	RAC3	OMIM:618577
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	60529	ALX4	ORPHA:228390
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55280	CWF19L1	ORPHA:453521
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3897	L1CAM	ORPHA:2466
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3897	L1CAM	OMIM:303350
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3897	L1CAM	OMIM:307000
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3897	L1CAM	ORPHA:2182
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9990	SLC12A6	ORPHA:1496
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9990	SLC12A6	OMIM:218000
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	164	AP1G1	OMIM:619548
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1801	DPH1	ORPHA:459061
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1802	DPH2	ORPHA:459061
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	22827	PUF60	ORPHA:508498
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5888	RAD51	ORPHA:238722
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5888	RAD51	OMIM:157600
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10126	DNAL4	ORPHA:238722
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9423	NTN1	ORPHA:238722
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9423	NTN1	OMIM:157600
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4558	MT-TF	ORPHA:550
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4572	MT-TQ	ORPHA:550
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4512	MT-CO1	ORPHA:550
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4513	MT-CO2	ORPHA:550
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4514	MT-CO3	ORPHA:550
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4578	MT-TW	ORPHA:550
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4540	MT-ND5	ORPHA:550
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4541	MT-ND6	ORPHA:550
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4535	MT-ND1	ORPHA:550
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4538	MT-ND4	ORPHA:550
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4567	MT-TL1	ORPHA:550
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4574	MT-TS1	ORPHA:550
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4575	MT-TS2	ORPHA:550
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4564	MT-TH	ORPHA:550
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	56896	DPYSL5	OMIM:619435
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2879	GPX4	ORPHA:93317
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	54973	INTS11	OMIM:620428
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5396	PRRX1	OMIM:202650
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5396	PRRX1	ORPHA:990
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51807	TUBA8	ORPHA:250972
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6091	ROBO1	OMIM:620305
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7545	ZIC1	OMIM:616602
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7545	ZIC1	OMIM:618736
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	11267	SNF8	OMIM:620784
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	11267	SNF8	OMIM:620783
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79813	EHMT1	ORPHA:96147
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	84320	ACBD6	OMIM:620785
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7473	WNT3	ORPHA:3301
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	340419	RSPO2	ORPHA:3301
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9496	TBX4	ORPHA:3301
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8050	PDHX	ORPHA:255182
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55593	OTUD5	OMIM:301056
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7707	ZNF148	OMIM:617260
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1436	CSF1R	OMIM:618476
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5649	RELN	ORPHA:89844
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10300	KATNB1	ORPHA:89844
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	54820	NDE1	ORPHA:89844
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	54820	NDE1	OMIM:605013
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	54820	NDE1	OMIM:614019
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23030	KDM4B	OMIM:619320
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5160	PDHA1	OMIM:312170
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5160	PDHA1	ORPHA:79243
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3313	HSPA9	OMIM:616854
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1806	DPYD	OMIM:274270
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55215	FANCI	OMIM:609053
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8320	EOMES	ORPHA:171703
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79133	NDUFAF5	OMIM:618238
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	157922	CAMSAP1	OMIM:620316
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55997	CFC1	OMIM:605376
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	29954	POMT2	OMIM:236670
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	29954	POMT2	ORPHA:899
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	29954	POMT2	ORPHA:370959
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	29954	POMT2	OMIM:613150
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79147	FKRP	OMIM:236670
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79147	FKRP	ORPHA:899
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79147	FKRP	ORPHA:370959
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79147	FKRP	OMIM:613153
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10585	POMT1	OMIM:236670
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10585	POMT1	ORPHA:899
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10585	POMT1	ORPHA:370959
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9215	LARGE1	OMIM:236670
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9215	LARGE1	ORPHA:899
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	84892	POMGNT2	ORPHA:899
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	148789	B3GALNT2	ORPHA:899
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1282	COL4A1	ORPHA:899
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	729920	CRPPA	ORPHA:899
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10329	RXYLT1	ORPHA:899
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1605	DAG1	ORPHA:899
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6657	SOX2	ORPHA:77298
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6657	SOX2	OMIM:206900
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6657	SOX2	ORPHA:3157
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4784	NFIX	OMIM:602535
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	63925	ZNF335	OMIM:615095
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2657	GDF1	OMIM:208530
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6598	SMARCB1	ORPHA:1465
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6659	SOX4	ORPHA:1465
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8289	ARID1A	ORPHA:1465
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5977	DPF2	ORPHA:1465
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6601	SMARCC2	ORPHA:1465
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	196528	ARID2	ORPHA:1465
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6605	SMARCE1	ORPHA:1465
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6664	SOX11	ORPHA:1465
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5831	PYCR1	OMIM:612940
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	29920	PYCR2	ORPHA:481152
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	29920	PYCR2	ORPHA:2512
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1063	CENPF	OMIM:243605
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9361	LONP1	ORPHA:79243
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51608	GET4	OMIM:620200
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1000	CDH2	OMIM:618929
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1781	DYNC1I2	OMIM:618492
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1583	CYP11A1	ORPHA:289548
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1583	CYP11A1	ORPHA:168558
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1641	DCX	OMIM:300067
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7161	TP73	OMIM:619466
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2009	EML1	OMIM:600348
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	84342	COG8	OMIM:611182
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5395	PMS2	OMIM:619101
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4990	SIX6	OMIM:206900
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2313	FLI1	ORPHA:2308
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	60386	SLC25A19	ORPHA:99742
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	60	ACTB	OMIM:243310
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	64840	PORCN	OMIM:305600
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9791	PTDSS1	OMIM:151050
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9791	PTDSS1	ORPHA:2658
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2290	FOXG1	ORPHA:261144
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	71	ACTG1	OMIM:614583
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8092	ALX1	ORPHA:306542
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	28962	OSTM1	ORPHA:85179
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	348180	CTU2	OMIM:618142
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2033	EP300	OMIM:180849
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1387	CREBBP	OMIM:180849
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4659	PPP1R12A	OMIM:618820
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	26576	SRPK3	OMIM:301134
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	29925	GMPPB	ORPHA:370959
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5162	PDHB	ORPHA:255138
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5162	PDHB	OMIM:614111
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	374879	ZNF699	OMIM:619488
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55640	FLVCR2	OMIM:225790
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	91875	TTC5	OMIM:619244
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6299	SALL1	ORPHA:857
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51339	DACT1	ORPHA:857
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	118924	FRA10AC1	OMIM:620113
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	113246	C12orf57	OMIM:218340
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1759	DNM1	OMIM:620352
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	80208	SPG11	OMIM:604360
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1376	CPT2	OMIM:608836
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1376	CPT2	ORPHA:228308
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	259266	ASPM	OMIM:608716
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	259266	ASPM	ORPHA:2512
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2177	FANCD2	OMIM:227646
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	84823	LMNB2	OMIM:616540
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4781	NFIB	OMIM:618286
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8243	SMC1A	ORPHA:220386
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8777	MPDZ	OMIM:615219
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5430	POLR2A	OMIM:618603
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	124454	EARS2	OMIM:614924
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4292	MLH1	OMIM:276300
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9276	COPB2	ORPHA:2512
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	22995	CEP152	ORPHA:2512
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	284403	WDR62	ORPHA:2512
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55262	TRAPPC14	ORPHA:2512
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	163786	SASS6	ORPHA:2512
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	84879	MFSD2A	ORPHA:2512
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4176	MCM7	ORPHA:2512
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	80254	CEP63	ORPHA:2512
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	29081	METTL5	ORPHA:2512
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79023	NUP37	ORPHA:2512
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23310	NCAPD3	ORPHA:2512
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6301	SARS1	ORPHA:2512
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55755	CDK5RAP2	ORPHA:2512
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79648	MCPH1	ORPHA:2512
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7109	TRAPPC10	ORPHA:2512
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7453	WARS1	ORPHA:2512
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1911	PHC1	ORPHA:2512
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1062	CENPE	ORPHA:2512
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6884	TAF13	ORPHA:2512
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9662	CEP135	ORPHA:2512
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	57082	KNL1	ORPHA:2512
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1021	CDK6	ORPHA:2512
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	18	ABAT	OMIM:613163
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8449	DHX16	OMIM:618733
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	128674	PROKR2	ORPHA:3157
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6658	SOX3	ORPHA:3157
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9915	ARNT2	ORPHA:3157
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	58499	ZNF462	OMIM:618619
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	283450	HECTD4	OMIM:620250
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2615	LRRC32	OMIM:619074
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10128	LRPPRC	OMIM:220111
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10785	WDR4	OMIM:618346
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6938	TCF12	OMIM:615314
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	11198	SUPT16H	OMIM:619480
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	136647	MPLKIP	OMIM:234050
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	136647	MPLKIP	ORPHA:33364
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10733	PLK4	OMIM:616171
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4190	MDH1	OMIM:618959
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	139285	AMER1	OMIM:300373
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7143	TNR	OMIM:619653
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4123	MAN2C1	OMIM:619775
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	54916	TMEM260	OMIM:617478
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	404672	GTF2H5	ORPHA:33364
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2068	ERCC2	ORPHA:33364
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7737	RNF113A	ORPHA:33364
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6897	TARS1	ORPHA:33364
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	16	AARS1	ORPHA:33364
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2071	ERCC3	ORPHA:33364
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2961	GTF2E2	ORPHA:33364
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	64432	MRPS25	OMIM:619025
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10524	KAT5	OMIM:619103
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2137	EXTL3	ORPHA:508533
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	29899	GPSM2	OMIM:604213
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8036	SHOC2	OMIM:607721
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23394	ADNP	ORPHA:404448
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55703	POLR3B	OMIM:614381
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55703	POLR3B	OMIM:607694
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10617	STAMBP	OMIM:614261
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	26235	FBXL4	OMIM:615471
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	104	ADARB1	OMIM:618862
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9853	RUSC2	OMIM:617773
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1763	DNA2	OMIM:620819
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55823	VPS11	OMIM:616683
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55823	VPS11	ORPHA:466934
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	343450	KCNT2	OMIM:617771
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2775	GNAO1	OMIM:615473
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2775	GNAO1	ORPHA:1934
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2775	GNAO1	OMIM:617493
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	27247	NFU1	OMIM:620938
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6873	TAF2	OMIM:615599
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6873	TAF2	ORPHA:397951
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7360	UGP2	OMIM:618744
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5927	KDM5A	OMIM:620820
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	84942	WDR73	OMIM:251300
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10159	ATP6AP2	ORPHA:93952
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10159	ATP6AP2	OMIM:300423
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	80816	ASXL3	OMIM:615485
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6536	SLC6A9	OMIM:617301
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51741	WWOX	OMIM:616211
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5917	RARS1	ORPHA:438114
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5917	RARS1	OMIM:616140
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	27245	AHDC1	ORPHA:412069
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	27245	AHDC1	OMIM:615829
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	166378	AFG2A	OMIM:616577
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	166378	AFG2A	ORPHA:457351
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	375387	NRROS	OMIM:618875
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5610	EIF2AK2	OMIM:618877
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	83696	TRAPPC9	OMIM:613192
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	83696	TRAPPC9	ORPHA:352530
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7343	UBTF	OMIM:617672
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7343	UBTF	ORPHA:500180
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6844	VAMP2	OMIM:618760
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79029	AFG2B	OMIM:619616
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	11232	POLG2	OMIM:618528
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1183	CLCN4	ORPHA:485350
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1183	CLCN4	OMIM:300114
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	83480	PUS3	ORPHA:488627
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6872	TAF1	ORPHA:480907
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6872	TAF1	OMIM:300966
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4763	NF1	ORPHA:363700
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1656	DDX6	OMIM:618653
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	25930	PTPN23	OMIM:618890
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23327	NEDD4L	OMIM:617201
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	833	CARS1	OMIM:618891
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2903	GRIN2A	ORPHA:289266
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2903	GRIN2A	ORPHA:163721
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	57178	ZMIZ1	OMIM:618659
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8550	MAPKAPK5	OMIM:619869
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	93627	TBCK	ORPHA:488632
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	93627	TBCK	OMIM:616900
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6905	TBCE	OMIM:617207
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6905	TBCE	OMIM:241410
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6905	TBCE	ORPHA:496756
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55361	PI4K2A	OMIM:620732
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	26040	SETBP1	OMIM:269150
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	26040	SETBP1	ORPHA:798
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	26834	RNU4-2	OMIM:620851
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1499	CTNNB1	ORPHA:404473
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1499	CTNNB1	OMIM:615075
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	113612	CYP2U1	OMIM:615030
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	113612	CYP2U1	ORPHA:320411
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2261	FGFR3	OMIM:616482
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2261	FGFR3	ORPHA:85165
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9895	TECPR2	OMIM:615031
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9895	TECPR2	ORPHA:320385
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10717	AP4B1	OMIM:614066
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10717	AP4B1	ORPHA:280763
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	91574	MTRFR	OMIM:615035
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	91574	MTRFR	ORPHA:320375
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	91574	MTRFR	ORPHA:254930
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	84504	NKX6-2	ORPHA:527497
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23126	POGZ	OMIM:616364
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23126	POGZ	ORPHA:468678
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8558	CDK10	OMIM:617694
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23259	DDHD2	OMIM:615033
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23259	DDHD2	ORPHA:320380
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4613	MYCN	OMIM:620748
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5048	PAFAH1B1	ORPHA:217385
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5048	PAFAH1B1	ORPHA:531
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5048	PAFAH1B1	ORPHA:95232
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7531	YWHAE	ORPHA:217385
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7531	YWHAE	ORPHA:531
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	57282	SLC4A10	OMIM:620746
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3098	HK1	OMIM:618547
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1859	DYRK1A	ORPHA:464311
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1859	DYRK1A	ORPHA:268261
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	85365	ALG2	ORPHA:79326
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	26137	ZBTB20	OMIM:259050
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9533	POLR1C	OMIM:616494
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1615	DARS1	OMIM:615281
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3800	KIF5C	OMIM:615282
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	253959	RALGAPA1	OMIM:618797
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2232	FDXR	ORPHA:543470
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51098	IFT52	OMIM:617102
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4849	CNOT3	OMIM:618672
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6506	SLC1A2	OMIM:617105
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	57466	SCAF4	OMIM:620511
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	25973	PARS2	OMIM:618437
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79971	WLS	OMIM:619648
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2558	GABRA5	OMIM:618559
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7841	MOGS	ORPHA:79330
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7841	MOGS	OMIM:606056
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4208	MEF2C	ORPHA:228384
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23162	MAPK8IP3	OMIM:618443
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3798	KIF5A	OMIM:617235
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51227	PIGP	OMIM:617599
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51227	PIGP	ORPHA:1934
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3785	KCNQ2	ORPHA:439218
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3785	KCNQ2	OMIM:613720
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23499	MACF1	OMIM:618325
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	374969	SVBP	OMIM:618569
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51062	ATL1	OMIM:182600
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10195	ALG3	ORPHA:79321
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79087	ALG12	ORPHA:79324
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79053	ALG8	ORPHA:79325
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8295	TRRAP	OMIM:618454
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9742	IFT140	OMIM:266920
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7040	TGFB1	OMIM:618213
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	58497	PRUNE1	OMIM:617481
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	133686	NADK2	OMIM:616034
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	133686	NADK2	ORPHA:431361
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	27429	HTRA2	OMIM:617248
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	11338	U2AF2	OMIM:620535
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51013	EXOSC1	OMIM:619304
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55770	EXOC2	OMIM:619306
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6792	CDKL5	ORPHA:1934
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3736	KCNA1	ORPHA:1934
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9091	PIGQ	ORPHA:1934
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	140679	SLC32A1	ORPHA:1934
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	81603	TRIM8	ORPHA:1934
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2902	GRIN1	ORPHA:1934
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2902	GRIN1	ORPHA:208447
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2902	GRIN1	OMIM:617820
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2902	GRIN1	OMIM:614254
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79751	SLC25A22	ORPHA:1934
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	150094	SIK1	ORPHA:1934
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8573	CASK	ORPHA:1934
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23312	DMXL2	ORPHA:1934
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2917	GRM7	ORPHA:1934
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2917	GRM7	OMIM:618922
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	11284	PNKP	ORPHA:1934
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	11284	PNKP	OMIM:613402
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6326	SCN2A	ORPHA:1934
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6324	SCN1B	ORPHA:1934
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4761	NEUROD2	ORPHA:1934
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4761	NEUROD2	OMIM:618374
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9488	PIGB	OMIM:618580
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3912	LAMB1	OMIM:615191
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	84706	GPT2	OMIM:616281
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	84706	GPT2	ORPHA:477673
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79876	UBA5	OMIM:617132
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	160418	TMTC3	OMIM:617255
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8506	CNTNAP1	OMIM:616286
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8506	CNTNAP1	OMIM:618186
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2187	FANCB	OMIM:300514
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10765	KDM5B	OMIM:618109
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10564	ARFGEF2	OMIM:608097
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	85476	GFM1	OMIM:609060
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51412	ACTL6B	OMIM:618468
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51412	ACTL6B	OMIM:618470
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2653	GCSH	OMIM:620423
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2671	GFER	ORPHA:330054
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	11160	ERLIN2	ORPHA:209951
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	11160	ERLIN2	OMIM:611225
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	56945	MRPS22	OMIM:611719
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	128869	PIGU	OMIM:618590
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5631	PRPS1	ORPHA:423479
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2972	BRF1	ORPHA:444072
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5515	PPP2CA	OMIM:618354
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55610	VPS50	OMIM:619685
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4695	NDUFA2	OMIM:618235
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6651	SON	OMIM:617140
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6651	SON	ORPHA:500150
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8312	AXIN1	OMIM:620558
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5660	PSAP	OMIM:611721
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	26128	KIFBP	ORPHA:66629
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	26128	KIFBP	OMIM:609460
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9179	AP4M1	OMIM:612936
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9179	AP4M1	ORPHA:280763
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6904	TBCD	ORPHA:496641
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6904	TBCD	OMIM:617193
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7337	UBE3A	ORPHA:98794
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4948	OCA2	ORPHA:98794
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	84340	GFM2	ORPHA:565624
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	22796	COG2	OMIM:617395
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	22796	COG2	ORPHA:435934
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2560	GABRB1	OMIM:617153
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10588	MTHFS	OMIM:618367
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23221	RHOBTB2	OMIM:618004
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8120	AP3B2	OMIM:617276
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23476	BRD4	OMIM:620568
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7965	AIMP2	OMIM:618006
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	201163	FLCN	OMIM:610883
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7703	PCGF2	OMIM:618371
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	29968	PSAT1	ORPHA:284417
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	191	AHCY	ORPHA:88618
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51324	SPG21	ORPHA:101001
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	11342	RNF13	OMIM:618379
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	11342	RNF13	ORPHA:544503
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9758	FRMPD4	OMIM:300983
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1822	ATN1	OMIM:618494
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	523	ATP6V1A	OMIM:618012
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5332	PLCB4	OMIM:620458
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8883	NAE1	OMIM:620210
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	80185	TTI2	ORPHA:391307
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	50801	KCNK4	OMIM:618381
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	11340	EXOSC8	OMIM:616081
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	84265	POLR3GL	OMIM:619234
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2892	GRIA3	ORPHA:364028
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	26005	C2CD3	ORPHA:434179
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	26005	C2CD3	OMIM:615948
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	57514	ARHGAP31	OMIM:100300
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51091	SEPSECS	OMIM:613811
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51091	SEPSECS	ORPHA:2524
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2571	GAD1	OMIM:619124
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2222	FDFT1	OMIM:618156
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	203068	TUBB	OMIM:156610
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	285590	SH3PXD2B	OMIM:249420
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	90522	YIF1B	OMIM:619125
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	374354	NHLRC2	OMIM:618278
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8239	USP9X	OMIM:300968
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8239	USP9X	ORPHA:480880
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9326	ZNHIT3	OMIM:260565
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6472	SHMT2	OMIM:619121
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	29123	ANKRD11	ORPHA:261250
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79152	FA2H	ORPHA:171629
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79152	FA2H	ORPHA:329308
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79152	FA2H	OMIM:612319
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9373	PLAA	ORPHA:521426
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9373	PLAA	OMIM:617527
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8911	CACNA1I	OMIM:620114
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	93587	TRMT10A	ORPHA:391408
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	84919	PPP1R15B	ORPHA:391408
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	84919	PPP1R15B	OMIM:616817
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3090	HIC1	ORPHA:531
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6748	SSR4	ORPHA:370927
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6748	SSR4	OMIM:300934
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2629	GBA1	ORPHA:2072
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	340533	NEXMIF	ORPHA:85277
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	89970	RSPRY1	ORPHA:457395
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	54187	NANS	OMIM:610442
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55005	RMND1	OMIM:614922
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3295	HSD17B4	OMIM:261515
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	84153	RNASEH2C	OMIM:610329
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	84153	RNASEH2C	ORPHA:51
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10079	ATP9A	OMIM:620242
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23299	BICD2	OMIM:618291
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	64802	NMNAT1	OMIM:619260
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	129285	PPP1R21	OMIM:619383
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	114034	TOE1	ORPHA:284339
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	114034	TOE1	OMIM:614969
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9562	MINPP1	ORPHA:284339
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2316	FLNA	ORPHA:555877
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2316	FLNA	OMIM:300049
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	84842	HPDL	OMIM:619026
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1496	CTNNA2	OMIM:618174
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	221927	BRAT1	OMIM:618056
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	27445	PCLO	OMIM:608027
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3480	IGF1R	OMIM:270450
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8085	KMT2D	OMIM:147920
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7403	KDM6A	OMIM:147920
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10682	EBP	ORPHA:401973
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6095	RORA	OMIM:618060
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8450	CUL4B	OMIM:300354
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9131	AIFM1	OMIM:300232
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9131	AIFM1	ORPHA:83629
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6535	SLC6A8	OMIM:300352
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7355	SLC35A2	ORPHA:356961
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7355	SLC35A2	OMIM:300896
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	347734	SLC35B2	OMIM:620269
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	781	CACNA2D1	OMIM:620149
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8496	PPFIBP1	OMIM:620024
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	132158	GLYCTK	ORPHA:941
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	57176	VARS2	OMIM:615917
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	80222	TARS2	OMIM:615918
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	54209	TREM2	OMIM:618193
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	200205	IBA57	ORPHA:468661
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	200205	IBA57	OMIM:615330
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	80232	WDR26	ORPHA:513456
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	80232	WDR26	OMIM:617616
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	89910	UBE3B	OMIM:244450
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	29072	SETD2	OMIM:620157
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	29072	SETD2	OMIM:620155
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	57582	KCNT1	OMIM:614959
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55780	ERMARD	ORPHA:75857
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10978	CLP1	OMIM:615803
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	271	AMPD2	OMIM:615809
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	271	AMPD2	OMIM:615686
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	25839	COG4	ORPHA:263501
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	25839	COG4	OMIM:613489
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5119	CHMP1A	OMIM:614961
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55157	DARS2	ORPHA:137898
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10000	AKT3	OMIM:615937
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	501	ALDH7A1	ORPHA:3006
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	11212	PLPBP	ORPHA:3006
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	57531	HACE1	ORPHA:464282
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	57531	HACE1	OMIM:616756
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23400	ATP13A2	ORPHA:513436
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	80856	LNPK	OMIM:618090
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	26278	SACS	ORPHA:98
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4338	MOCS2	OMIM:252160
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2752	GLUL	OMIM:610015
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	25942	SIN3A	OMIM:613406
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9907	AP5Z1	OMIM:613647
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9907	AP5Z1	ORPHA:306511
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	54496	PRMT7	ORPHA:464288
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23265	EXOC7	OMIM:619072
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1798	DPAGT1	ORPHA:86309
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7025	NR2F1	ORPHA:401777
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1267	CNP	OMIM:619071
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	149371	EXOC8	OMIM:619076
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	56006	SMG9	OMIM:616920
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	27286	SRPX2	ORPHA:163721
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	285175	UNC80	OMIM:616801
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	285175	UNC80	ORPHA:371364
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79753	SNIP1	OMIM:614501
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	54499	TMCO1	OMIM:213980
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	54499	TMCO1	ORPHA:1394
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23503	ZFYVE26	OMIM:270700
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23503	ZFYVE26	ORPHA:100996
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	58508	KMT2C	ORPHA:261652
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4094	MAF	ORPHA:1272
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5591	PRKDC	OMIM:615966
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51244	CCDC174	OMIM:616816
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51322	WAC	ORPHA:284169
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51322	WAC	OMIM:616708
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4677	NARS1	OMIM:619091
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55275	VPS53	OMIM:615851
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	57704	GBA2	OMIM:614409
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	200403	VWA3B	OMIM:616948
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	85021	REPS1	OMIM:617916
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	85440	DOCK7	OMIM:615859
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	85440	DOCK7	ORPHA:411986
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6509	SLC1A4	ORPHA:447997
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6509	SLC1A4	OMIM:616657
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7407	VARS1	OMIM:617802
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	57165	GJC2	OMIM:613206
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10535	RNASEH2A	ORPHA:51
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	25939	SAMHD1	ORPHA:51
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79621	RNASEH2B	ORPHA:51
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	103	ADAR	ORPHA:51
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	11277	TREX1	ORPHA:51
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	100147744	RNU7-1	ORPHA:51
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	134353	LSM11	ORPHA:51
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	64135	IFIH1	ORPHA:51
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5080	PAX6	OMIM:106210
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7490	WT1	OMIM:106210
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10075	HUWE1	OMIM:309590
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	91949	COG7	OMIM:608779
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	124997	WDR81	OMIM:610185
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	11020	IFT27	OMIM:615996
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23028	KDM1A	OMIM:616728
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23028	KDM1A	ORPHA:477993
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6328	SCN3A	OMIM:617938
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79587	CARS2	ORPHA:477774
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79587	CARS2	OMIM:616672
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5859	QARS1	OMIM:615760
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	80347	COASY	OMIM:615643
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23291	FBXW11	OMIM:618914
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7280	TUBB2A	OMIM:615763
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	998	CDC42	OMIM:616737
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	998	CDC42	ORPHA:487796
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	50	ACO2	OMIM:614559
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3097	HIVEP2	OMIM:616977
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10982	MAPRE2	OMIM:616734
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51218	GLRX5	OMIM:616859
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5053	PAH	ORPHA:2209
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4131	MAP1B	OMIM:618918
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5925	RB1	ORPHA:1587
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23511	NUP188	OMIM:618804
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6709	SPTAN1	OMIM:613477
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1778	DYNC1H1	OMIM:614563
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3796	KIF2A	OMIM:615411
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2058	EPRS1	OMIM:617951
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	27315	PGAP2	OMIM:614207
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	80746	TSEN2	OMIM:612389
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	80746	TSEN2	ORPHA:2524
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	57511	COG6	OMIM:614576
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23065	EMC1	OMIM:616875
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	54664	TMEM106B	OMIM:617964
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1729	DIAPH1	OMIM:616632
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2475	MTOR	OMIM:616638
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9419	CRIPT	OMIM:615789
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55644	OSGEP	OMIM:617729
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7874	USP7	ORPHA:500055
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	340075	ARSI	ORPHA:401815
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6812	STXBP1	OMIM:612164
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4337	MOCS1	OMIM:252150
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	29957	SLC25A24	OMIM:612289
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4329	ALDH6A1	OMIM:614105
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	56270	WDR45B	OMIM:617977
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	259232	NALCN	ORPHA:371364
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	122553	TRAPPC6B	OMIM:617862
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51124	IER3IP1	OMIM:614231
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	283989	TSEN54	ORPHA:2524
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	116461	TSEN15	ORPHA:2524
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79042	TSEN34	ORPHA:2524
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2893	GRIA4	OMIM:617864
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55704	CCDC88A	OMIM:617507
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	54676	GTPBP2	OMIM:617988
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5296	PIK3R2	OMIM:603387
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	11154	AP4S1	ORPHA:280763
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23431	AP4E1	ORPHA:280763
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4841	NONO	ORPHA:466791
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4047	LSS	OMIM:618840
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5879	RAC1	OMIM:617751
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5879	RAC1	ORPHA:500159
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	440	ASNS	OMIM:615574
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5455	POU3F3	OMIM:618604
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	738	VPS51	OMIM:618606
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5116	PCNT	ORPHA:2637
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2806	GOT2	OMIM:618721
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51663	ZFR	ORPHA:401840
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1468	SLC25A10	OMIM:618972
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1968	EIF2S3	OMIM:300148
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5307	PITX1	OMIM:119800
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51075	TMX2	OMIM:618730
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8884	SLC5A6	OMIM:618973
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7305	TYROBP	OMIM:221770
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55331	ACER3	OMIM:617762
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	22978	NT5C2	OMIM:613162
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	7543	ZFX	OMIM:301118
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10844	TUBGCP2	OMIM:618737
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4858	NOVA2	OMIM:618859
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	84148	KAT8	OMIM:618974
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55753	OGDHL	OMIM:619701
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9851	KIAA0753	ORPHA:475
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9851	KIAA0753	ORPHA:2754
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5147	PDE6D	ORPHA:475
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5147	PDE6D	ORPHA:2754
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79600	TCTN1	ORPHA:475
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79600	TCTN1	ORPHA:564
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79848	CSPP1	ORPHA:475
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79848	CSPP1	ORPHA:564
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8481	OFD1	ORPHA:475
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8481	OFD1	ORPHA:2754
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51684	SUFU	ORPHA:475
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	54806	AHI1	ORPHA:475
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	153241	CEP120	ORPHA:475
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	65250	CPLANE1	ORPHA:475
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	65250	CPLANE1	ORPHA:2754
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	91147	TMEM67	ORPHA:475
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	91147	TMEM67	ORPHA:564
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	91147	TMEM67	ORPHA:1454
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	200894	ARL13B	ORPHA:475
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9731	CEP104	ORPHA:475
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	219844	HYLS1	ORPHA:475
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23247	KATNIP	ORPHA:475
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	219854	TMEM218	ORPHA:475
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	54903	MKS1	ORPHA:475
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	54903	MKS1	ORPHA:564
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	95681	CEP41	ORPHA:475
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9786	KIAA0586	ORPHA:475
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	56623	INPP5E	ORPHA:475
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	56623	INPP5E	ORPHA:1454
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	26123	TCTN3	ORPHA:475
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	26123	TCTN3	ORPHA:2754
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	26123	TCTN3	ORPHA:564
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79867	TCTN2	ORPHA:475
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79867	TCTN2	ORPHA:564
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	80776	B9D2	ORPHA:475
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	80776	B9D2	ORPHA:564
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10464	PIBF1	ORPHA:475
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	80210	ARMC9	ORPHA:475
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23116	TOGARAM1	ORPHA:475
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	25776	CBY1	ORPHA:475
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	27077	B9D1	ORPHA:475
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	27077	B9D1	ORPHA:564
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	403	ARL3	ORPHA:475
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	80173	IFT74	ORPHA:475
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	65062	TMEM237	ORPHA:475
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	65062	TMEM237	ORPHA:2318
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	65062	TMEM237	ORPHA:564
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1718	DHCR24	OMIM:602398
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3981	LIG4	ORPHA:235
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	54888	NSUN2	ORPHA:235
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2218	FKTN	ORPHA:272
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	27238	GPKOW	ORPHA:2570
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6197	RPS6KA3	ORPHA:192
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3265	HRAS	ORPHA:2612
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	3845	KRAS	ORPHA:2612
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4893	NRAS	ORPHA:2612
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	64327	LMBR1	ORPHA:2378
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	673	BRAF	OMIM:115150
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	95	ACY1	ORPHA:137754
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	145173	B3GLCT	ORPHA:709
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55624	POMGNT1	OMIM:253280
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	6925	TCF4	ORPHA:2896
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	64324	NSD1	ORPHA:821
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10297	APC2	ORPHA:821
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	154881	KCTD7	ORPHA:263516
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4036	LRP2	OMIM:222448
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4036	LRP2	ORPHA:2143
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2737	GLI3	ORPHA:36
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	374654	KIF7	ORPHA:36
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	374654	KIF7	OMIM:200990
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	374654	KIF7	ORPHA:2754
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51633	OTUD6B	ORPHA:505237
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4774	NFIA	ORPHA:401986
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	26275	HIBCH	ORPHA:88639
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	54968	TMEM70	ORPHA:1194
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51715	RAB23	OMIM:201000
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	84162	BLTP1	OMIM:617822
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2314	FLII	ORPHA:819
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23096	IQSEC2	ORPHA:819
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10743	RAI1	ORPHA:819
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10522	DEAF1	ORPHA:819
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	1717	DHCR7	ORPHA:818
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10472	ZBTB18	ORPHA:36367
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51114	ZDHHC9	ORPHA:776
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	65109	UPF3B	ORPHA:776
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9968	MED12	ORPHA:776
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9968	MED12	ORPHA:93932
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5189	PEX1	OMIM:214100
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	55691	FRMD4A	OMIM:616819
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10479	SLC9A6	ORPHA:85278
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5290	PIK3CA	ORPHA:140944
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10225	CD96	ORPHA:1308
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	100151683	RNU4ATAC	ORPHA:1824
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79583	TMEM231	ORPHA:2318
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79583	TMEM231	ORPHA:2754
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79583	TMEM231	ORPHA:564
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51524	TMEM138	ORPHA:2318
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23090	ZNF423	ORPHA:2318
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	80184	CEP290	ORPHA:2318
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	80184	CEP290	ORPHA:564
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51259	TMEM216	ORPHA:2318
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51259	TMEM216	ORPHA:2754
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	51259	TMEM216	ORPHA:564
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	57545	CC2D2A	ORPHA:2318
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	57545	CC2D2A	ORPHA:564
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	57545	CC2D2A	ORPHA:1454
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	22930	RAB3GAP1	ORPHA:2510
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	25782	RAB3GAP2	ORPHA:2510
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	22931	RAB18	ORPHA:2510
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	128637	TBC1D20	ORPHA:2510
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	10210	TOPORS	ORPHA:2754
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	317662	FAM149B1	ORPHA:2754
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	8260	NAA10	ORPHA:568
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	54880	BCOR	ORPHA:568
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2260	FGFR1	ORPHA:2117
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	84314	TMEM107	ORPHA:564
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	57096	RPGRIP1	ORPHA:564
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	79770	TXNDC15	ORPHA:564
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23322	RPGRIP1L	ORPHA:564
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	23322	RPGRIP1L	ORPHA:1454
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	257	ALX3	ORPHA:391474
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	652	BMP4	OMIM:607932
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9184	BUB3	ORPHA:1052
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	699	BUB1	ORPHA:1052
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9702	CEP57	ORPHA:1052
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	9319	TRIP13	ORPHA:1052
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	701	BUB1B	ORPHA:1052
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	5277	PIGA	OMIM:300868
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	4001	LMNB1	ORPHA:99027
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	29980	DONSON	OMIM:251230
HP:0007006	Dorsal column degeneration	6310	ATXN1	OMIM:164400
HP:0007006	Dorsal column degeneration	215	ABCD1	ORPHA:139399
HP:0007007	Cavitation of the basal ganglia	2512	FTL	OMIM:606159
HP:0007193	Bilateral tonic-clonic seizure on awakening	1181	CLCN2	OMIM:607628
HP:0007193	Bilateral tonic-clonic seizure on awakening	114327	EFHC1	OMIM:607631
HP:0007193	Bilateral tonic-clonic seizure on awakening	785	CACNB4	OMIM:607682
HP:0007009	Central nervous system degeneration	51099	ABHD5	ORPHA:98907
HP:0007009	Central nervous system degeneration	5621	PRNP	ORPHA:282166
HP:0007009	Central nervous system degeneration	7167	TPI1	ORPHA:868
HP:0007009	Central nervous system degeneration	11277	TREX1	OMIM:192315
HP:0033140	Blake's pouch cyst	8496	PPFIBP1	OMIM:620024
HP:0033141	Severe SARS-CoV-2 infection	51284	TLR7	OMIM:301051
HP:0033142	Long nasal bridge	7169	TPM2	OMIM:108120
HP:0033142	Long nasal bridge	2186	BPTF	OMIM:617755
HP:0033142	Long nasal bridge	5700	PSMC1	OMIM:620071
HP:0033142	Long nasal bridge	10801	SEPTIN9	OMIM:162100
HP:0033142	Long nasal bridge	4621	MYH3	OMIM:178110
HP:0033144	Abnormal circulating ceruloplasmin concentration	22796	COG2	ORPHA:435934
HP:0033144	Abnormal circulating ceruloplasmin concentration	22796	COG2	OMIM:617395
HP:0033144	Abnormal circulating ceruloplasmin concentration	162	AP1B1	ORPHA:171851
HP:0033144	Abnormal circulating ceruloplasmin concentration	162	AP1B1	OMIM:242150
HP:0033144	Abnormal circulating ceruloplasmin concentration	1174	AP1S1	ORPHA:171851
HP:0033144	Abnormal circulating ceruloplasmin concentration	9197	SLC33A1	OMIM:614482
HP:0033144	Abnormal circulating ceruloplasmin concentration	1356	CP	ORPHA:48818
HP:0033144	Abnormal circulating ceruloplasmin concentration	540	ATP7B	ORPHA:905
HP:0033144	Abnormal circulating ceruloplasmin concentration	540	ATP7B	OMIM:277900
HP:0033144	Abnormal circulating ceruloplasmin concentration	538	ATP7A	OMIM:309400
HP:0033144	Abnormal circulating ceruloplasmin concentration	538	ATP7A	OMIM:304150
HP:0033144	Abnormal circulating ceruloplasmin concentration	147007	TMEM199	OMIM:616829
HP:0033144	Abnormal circulating ceruloplasmin concentration	84317	CCDC115	OMIM:616828
HP:0033144	Abnormal circulating ceruloplasmin concentration	1317	SLC31A1	OMIM:620306
HP:0033144	Abnormal circulating ceruloplasmin concentration	2495	FTH1	OMIM:615517
HP:0033146	Elevated circulating methylsuccinic acid concentration	2222	FDFT1	OMIM:618156
HP:0012310	Abnormal monocyte count	10312	TCIRG1	ORPHA:486
HP:0012310	Abnormal monocyte count	6728	SRP19	ORPHA:486
HP:0012310	Abnormal monocyte count	1991	ELANE	ORPHA:486
HP:0012310	Abnormal monocyte count	1991	ELANE	OMIM:202700
HP:0012310	Abnormal monocyte count	2672	GFI1	ORPHA:486
HP:0012310	Abnormal monocyte count	2672	GFI1	OMIM:613107
HP:0012310	Abnormal monocyte count	81570	CLPB	ORPHA:486
HP:0012310	Abnormal monocyte count	5293	PIK3CD	OMIM:619281
HP:0012310	Abnormal monocyte count	3551	IKBKB	OMIM:615592
HP:0012310	Abnormal monocyte count	4893	NRAS	OMIM:614470
HP:0012310	Abnormal monocyte count	3845	KRAS	OMIM:614470
HP:0012310	Abnormal monocyte count	57169	ZNFX1	OMIM:619644
HP:0012310	Abnormal monocyte count	51428	DDX41	OMIM:616871
HP:0012310	Abnormal monocyte count	92579	G6PC3	OMIM:612541
HP:0012310	Abnormal monocyte count	6730	SRP68	OMIM:620534
HP:0012310	Abnormal monocyte count	29927	SEC61A1	OMIM:620674
HP:0012310	Abnormal monocyte count	10092	ARPC5	OMIM:620565
HP:0012310	Abnormal monocyte count	5880	RAC2	OMIM:618986
HP:0012310	Abnormal monocyte count	7454	WAS	OMIM:300299
HP:0012310	Abnormal monocyte count	7454	WAS	ORPHA:86788
HP:0012310	Abnormal monocyte count	84433	CARD11	OMIM:615206
HP:0012310	Abnormal monocyte count	5294	PIK3CG	OMIM:619802
HP:0012310	Abnormal monocyte count	2624	GATA2	OMIM:614172
HP:0012310	Abnormal monocyte count	3394	IRF8	OMIM:226990
HP:0012311	Monocytosis	10312	TCIRG1	ORPHA:486
HP:0012311	Monocytosis	6728	SRP19	ORPHA:486
HP:0012311	Monocytosis	1991	ELANE	ORPHA:486
HP:0012311	Monocytosis	1991	ELANE	OMIM:202700
HP:0012311	Monocytosis	2672	GFI1	ORPHA:486
HP:0012311	Monocytosis	2672	GFI1	OMIM:613107
HP:0012311	Monocytosis	81570	CLPB	ORPHA:486
HP:0012311	Monocytosis	5293	PIK3CD	OMIM:619281
HP:0012311	Monocytosis	3551	IKBKB	OMIM:615592
HP:0012311	Monocytosis	4893	NRAS	OMIM:614470
HP:0012311	Monocytosis	3845	KRAS	OMIM:614470
HP:0012311	Monocytosis	57169	ZNFX1	OMIM:619644
HP:0012311	Monocytosis	51428	DDX41	OMIM:616871
HP:0012311	Monocytosis	92579	G6PC3	OMIM:612541
HP:0012311	Monocytosis	6730	SRP68	OMIM:620534
HP:0012311	Monocytosis	29927	SEC61A1	OMIM:620674
HP:0012311	Monocytosis	10092	ARPC5	OMIM:620565
HP:0012312	Monocytopenia	5880	RAC2	OMIM:618986
HP:0012312	Monocytopenia	7454	WAS	OMIM:300299
HP:0012312	Monocytopenia	7454	WAS	ORPHA:86788
HP:0012312	Monocytopenia	84433	CARD11	OMIM:615206
HP:0012312	Monocytopenia	5294	PIK3CG	OMIM:619802
HP:0012312	Monocytopenia	2624	GATA2	OMIM:614172
HP:0012312	Monocytopenia	3394	IRF8	OMIM:226990
HP:0012313	Heberden's node	4148	MATN3	OMIM:140600
HP:0012313	Heberden's node	1280	COL2A1	OMIM:604864
HP:0012315	Histiocytoma	1385	CREB1	OMIM:612160
HP:0012315	Histiocytoma	4507	MTAP	OMIM:112250
HP:0012316	Fibrous tissue neoplasm	6654	SOS1	OMIM:135300
HP:0012316	Fibrous tissue neoplasm	6654	SOS1	ORPHA:2024
HP:0012316	Fibrous tissue neoplasm	1718	DHCR24	OMIM:602398
HP:0012316	Fibrous tissue neoplasm	4221	MEN1	ORPHA:652
HP:0012316	Fibrous tissue neoplasm	1027	CDKN1B	ORPHA:652
HP:0012316	Fibrous tissue neoplasm	1026	CDKN1A	ORPHA:652
HP:0012316	Fibrous tissue neoplasm	1030	CDKN2B	ORPHA:652
HP:0012316	Fibrous tissue neoplasm	1031	CDKN2C	ORPHA:652
HP:0012316	Fibrous tissue neoplasm	118429	ANTXR2	OMIM:228600
HP:0012316	Fibrous tissue neoplasm	118429	ANTXR2	ORPHA:2028
HP:0012316	Fibrous tissue neoplasm	23461	ABCA5	OMIM:135400
HP:0012316	Fibrous tissue neoplasm	23461	ABCA5	ORPHA:2026
HP:0012316	Fibrous tissue neoplasm	54757	FAM20A	OMIM:204690
HP:0012316	Fibrous tissue neoplasm	3756	KCNH1	OMIM:135500
HP:0012316	Fibrous tissue neoplasm	3756	KCNH1	ORPHA:3473
HP:0012316	Fibrous tissue neoplasm	63916	ELMO2	ORPHA:3019
HP:0012316	Fibrous tissue neoplasm	3458	IFNG	OMIM:613254
HP:0012316	Fibrous tissue neoplasm	7249	TSC2	OMIM:613254
HP:0012316	Fibrous tissue neoplasm	5978	REST	ORPHA:2024
HP:0012316	Fibrous tissue neoplasm	5978	REST	OMIM:617626
HP:0012316	Fibrous tissue neoplasm	7248	TSC1	OMIM:191100
HP:0012316	Fibrous tissue neoplasm	526	ATP6V1B2	ORPHA:3473
HP:0012316	Fibrous tissue neoplasm	3782	KCNN3	ORPHA:3473
HP:0012316	Fibrous tissue neoplasm	56975	FAM20C	ORPHA:1832
HP:0012316	Fibrous tissue neoplasm	4763	NF1	OMIM:601321
HP:0012316	Fibrous tissue neoplasm	4763	NF1	OMIM:162200
HP:0012316	Fibrous tissue neoplasm	4763	NF1	OMIM:162210
HP:0012316	Fibrous tissue neoplasm	4763	NF1	OMIM:193520
HP:0012316	Fibrous tissue neoplasm	3815	KIT	OMIM:606764
HP:0012316	Fibrous tissue neoplasm	6711	SPTBN1	OMIM:619475
HP:0012316	Fibrous tissue neoplasm	161742	SPRED1	OMIM:611431
HP:0012316	Fibrous tissue neoplasm	161742	SPRED1	ORPHA:137605
HP:0012316	Fibrous tissue neoplasm	8314	BAP1	ORPHA:2495
HP:0012316	Fibrous tissue neoplasm	4771	NF2	ORPHA:2495
HP:0012316	Fibrous tissue neoplasm	4771	NF2	OMIM:101000
HP:0012316	Fibrous tissue neoplasm	6598	SMARCB1	ORPHA:2495
HP:0012316	Fibrous tissue neoplasm	5155	PDGFB	ORPHA:2495
HP:0012316	Fibrous tissue neoplasm	84231	TRAF7	ORPHA:2495
HP:0012316	Fibrous tissue neoplasm	6608	SMO	ORPHA:2495
HP:0012316	Fibrous tissue neoplasm	7015	TERT	ORPHA:2495
HP:0012316	Fibrous tissue neoplasm	51684	SUFU	ORPHA:2495
HP:0012316	Fibrous tissue neoplasm	51684	SUFU	OMIM:620343
HP:0012316	Fibrous tissue neoplasm	6605	SMARCE1	ORPHA:2495
HP:0012316	Fibrous tissue neoplasm	4035	LRP1	ORPHA:79100
HP:0012316	Fibrous tissue neoplasm	4436	MSH2	OMIM:158320
HP:0012316	Fibrous tissue neoplasm	4436	MSH2	ORPHA:144
HP:0012316	Fibrous tissue neoplasm	3265	HRAS	ORPHA:2612
HP:0012316	Fibrous tissue neoplasm	3845	KRAS	ORPHA:2612
HP:0012316	Fibrous tissue neoplasm	3845	KRAS	ORPHA:144
HP:0012316	Fibrous tissue neoplasm	4893	NRAS	ORPHA:2612
HP:0012316	Fibrous tissue neoplasm	4072	EPCAM	ORPHA:144
HP:0012316	Fibrous tissue neoplasm	5395	PMS2	ORPHA:144
HP:0012316	Fibrous tissue neoplasm	7048	TGFBR2	ORPHA:144
HP:0012316	Fibrous tissue neoplasm	2956	MSH6	ORPHA:144
HP:0012316	Fibrous tissue neoplasm	5378	PMS1	ORPHA:144
HP:0012316	Fibrous tissue neoplasm	5333	PLCD1	ORPHA:2387
HP:0012316	Fibrous tissue neoplasm	3872	KRT17	ORPHA:841
HP:0012316	Fibrous tissue neoplasm	4292	MLH1	OMIM:276300
HP:0012316	Fibrous tissue neoplasm	5159	PDGFRB	OMIM:228550
HP:0012316	Fibrous tissue neoplasm	5159	PDGFRB	ORPHA:2591
HP:0012316	Fibrous tissue neoplasm	1499	CTNNB1	ORPHA:873
HP:0012316	Fibrous tissue neoplasm	324	APC	ORPHA:873
HP:0012316	Fibrous tissue neoplasm	324	APC	OMIM:175100
HP:0012316	Fibrous tissue neoplasm	10483	SEC23B	ORPHA:201
HP:0012316	Fibrous tissue neoplasm	5728	PTEN	ORPHA:201
HP:0012316	Fibrous tissue neoplasm	6390	SDHB	ORPHA:201
HP:0012316	Fibrous tissue neoplasm	6392	SDHD	ORPHA:201
HP:0012316	Fibrous tissue neoplasm	6391	SDHC	ORPHA:201
HP:0012316	Fibrous tissue neoplasm	207	AKT1	ORPHA:201
HP:0012316	Fibrous tissue neoplasm	205717	USF3	ORPHA:201
HP:0012316	Fibrous tissue neoplasm	5290	PIK3CA	ORPHA:201
HP:0012316	Fibrous tissue neoplasm	100144748	KLLN	ORPHA:201
HP:0012316	Fibrous tissue neoplasm	2316	FLNA	OMIM:300244
HP:0012316	Fibrous tissue neoplasm	79577	CDC73	ORPHA:143
HP:0012316	Fibrous tissue neoplasm	79577	CDC73	ORPHA:99880
HP:0012316	Fibrous tissue neoplasm	4854	NOTCH3	ORPHA:2591
HP:0012316	Fibrous tissue neoplasm	1288	COL4A6	ORPHA:1018
HP:0012316	Fibrous tissue neoplasm	1287	COL4A5	ORPHA:1018
HP:0012316	Fibrous tissue neoplasm	3572	IL6ST	OMIM:619750
HP:0012316	Fibrous tissue neoplasm	5727	PTCH1	ORPHA:77301
HP:0012316	Fibrous tissue neoplasm	5727	PTCH1	ORPHA:377
HP:0012316	Fibrous tissue neoplasm	5727	PTCH1	OMIM:109400
HP:0012316	Fibrous tissue neoplasm	8643	PTCH2	ORPHA:377
HP:0012316	Fibrous tissue neoplasm	5618	PRLR	OMIM:615554
HP:0012316	Fibrous tissue neoplasm	355	FAS	ORPHA:3261
HP:0012316	Fibrous tissue neoplasm	356	FASLG	ORPHA:3261
HP:0012316	Fibrous tissue neoplasm	843	CASP10	ORPHA:3261
HP:0012316	Fibrous tissue neoplasm	5573	PRKAR1A	ORPHA:1359
HP:0012316	Fibrous tissue neoplasm	50940	PDE11A	ORPHA:1359
HP:0012316	Fibrous tissue neoplasm	1385	CREB1	OMIM:612160
HP:0012316	Fibrous tissue neoplasm	4507	MTAP	OMIM:112250
HP:0012316	Fibrous tissue neoplasm	89970	RSPRY1	ORPHA:457395
HP:0012317	Sacroiliac arthritis	3106	HLA-B	ORPHA:29207
HP:0012317	Sacroiliac arthritis	3106	HLA-B	OMIM:106300
HP:0033149	Intrahepatic bile duct dilatation	9968	MED12	OMIM:301068
HP:0033149	Intrahepatic bile duct dilatation	91147	TMEM67	OMIM:216360
HP:0033149	Intrahepatic bile duct dilatation	57728	WDR19	OMIM:614377
HP:0033149	Intrahepatic bile duct dilatation	57728	WDR19	OMIM:616307
HP:0033149	Intrahepatic bile duct dilatation	9371	KIF3B	OMIM:618955
HP:0033149	Intrahepatic bile duct dilatation	79989	IFT56	OMIM:619534
HP:0007010	Poor fine motor coordination	3064	HTT	ORPHA:399
HP:0007010	Poor fine motor coordination	6515	SLC2A3	ORPHA:399
HP:0007010	Poor fine motor coordination	388015	RTL1	ORPHA:254531
HP:0007010	Poor fine motor coordination	388015	RTL1	ORPHA:96184
HP:0007010	Poor fine motor coordination	388015	RTL1	ORPHA:254525
HP:0007010	Poor fine motor coordination	8788	DLK1	ORPHA:254531
HP:0007010	Poor fine motor coordination	8788	DLK1	ORPHA:96184
HP:0007010	Poor fine motor coordination	8788	DLK1	ORPHA:254525
HP:0007010	Poor fine motor coordination	55384	MEG3	ORPHA:254531
HP:0007010	Poor fine motor coordination	55384	MEG3	ORPHA:96184
HP:0007010	Poor fine motor coordination	55384	MEG3	ORPHA:254525
HP:0007010	Poor fine motor coordination	7840	ALMS1	ORPHA:64
HP:0007010	Poor fine motor coordination	5888	RAD51	ORPHA:238722
HP:0007010	Poor fine motor coordination	10126	DNAL4	ORPHA:238722
HP:0007010	Poor fine motor coordination	9423	NTN1	ORPHA:238722
HP:0007010	Poor fine motor coordination	1630	DCC	ORPHA:238722
HP:0007010	Poor fine motor coordination	54914	FOCAD	OMIM:619991
HP:0007010	Poor fine motor coordination	55532	SLC30A10	ORPHA:309854
HP:0007010	Poor fine motor coordination	55532	SLC30A10	OMIM:613280
HP:0007010	Poor fine motor coordination	7415	VCP	ORPHA:435387
HP:0007010	Poor fine motor coordination	253738	EBF3	ORPHA:96148
HP:0007010	Poor fine motor coordination	6335	SCN9A	ORPHA:33069
HP:0007010	Poor fine motor coordination	6335	SCN9A	ORPHA:36387
HP:0007010	Poor fine motor coordination	6326	SCN2A	ORPHA:33069
HP:0007010	Poor fine motor coordination	6326	SCN2A	ORPHA:36387
HP:0007010	Poor fine motor coordination	2554	GABRA1	ORPHA:33069
HP:0007010	Poor fine motor coordination	6323	SCN1A	ORPHA:33069
HP:0007010	Poor fine motor coordination	6323	SCN1A	ORPHA:36387
HP:0007010	Poor fine motor coordination	6324	SCN1B	ORPHA:33069
HP:0007010	Poor fine motor coordination	6324	SCN1B	ORPHA:36387
HP:0007010	Poor fine motor coordination	57526	PCDH19	ORPHA:33069
HP:0007010	Poor fine motor coordination	2566	GABRG2	ORPHA:33069
HP:0007010	Poor fine motor coordination	2566	GABRG2	ORPHA:36387
HP:0007010	Poor fine motor coordination	100033413	SNORD116-1	OMIM:176270
HP:0007010	Poor fine motor coordination	8924	HERC2	OMIM:176270
HP:0007010	Poor fine motor coordination	23742	NPAP1	OMIM:176270
HP:0007010	Poor fine motor coordination	338433	SNORD115-1	OMIM:176270
HP:0007010	Poor fine motor coordination	54551	MAGEL2	OMIM:176270
HP:0007010	Poor fine motor coordination	7681	MKRN3	OMIM:176270
HP:0007010	Poor fine motor coordination	145624	PWAR1	OMIM:176270
HP:0007010	Poor fine motor coordination	3653	IPW	OMIM:176270
HP:0007010	Poor fine motor coordination	791114	PWRN1	OMIM:176270
HP:0007010	Poor fine motor coordination	9839	ZEB2	ORPHA:261537
HP:0007010	Poor fine motor coordination	9839	ZEB2	ORPHA:261552
HP:0007010	Poor fine motor coordination	5521	PPP2R2B	ORPHA:98762
HP:0007010	Poor fine motor coordination	8050	PDHX	OMIM:245349
HP:0007010	Poor fine motor coordination	10681	GNB5	OMIM:617182
HP:0007010	Poor fine motor coordination	10681	GNB5	ORPHA:542306
HP:0007010	Poor fine motor coordination	5621	PRNP	ORPHA:157941
HP:0007010	Poor fine motor coordination	63895	PIEZO2	OMIM:617146
HP:0007010	Poor fine motor coordination	10743	RAI1	ORPHA:1713
HP:0007010	Poor fine motor coordination	10020	GNE	OMIM:269921
HP:0007010	Poor fine motor coordination	55157	DARS2	ORPHA:137898
HP:0007010	Poor fine motor coordination	93986	FOXP2	ORPHA:209908
HP:0007010	Poor fine motor coordination	84665	MYPN	ORPHA:171439
HP:0007010	Poor fine motor coordination	58	ACTA1	ORPHA:171439
HP:0007010	Poor fine motor coordination	7169	TPM2	ORPHA:171439
HP:0007010	Poor fine motor coordination	390594	KBTBD13	ORPHA:171439
HP:0007010	Poor fine motor coordination	4703	NEB	ORPHA:171439
HP:0007010	Poor fine motor coordination	10324	KLHL41	ORPHA:171439
HP:0007010	Poor fine motor coordination	7170	TPM3	ORPHA:171439
HP:0007010	Poor fine motor coordination	25974	MMACHC	ORPHA:79282
HP:0007010	Poor fine motor coordination	2146	EZH2	OMIM:277590
HP:0007010	Poor fine motor coordination	54974	THG1L	OMIM:618800
HP:0007010	Poor fine motor coordination	81846	SBF2	ORPHA:99956
HP:0007010	Poor fine motor coordination	10079	ATP9A	OMIM:620242
HP:0007010	Poor fine motor coordination	1760	DMPK	ORPHA:589821
HP:0007010	Poor fine motor coordination	2332	FMR1	OMIM:300623
HP:0007010	Poor fine motor coordination	7852	CXCR4	ORPHA:51636
HP:0007010	Poor fine motor coordination	91574	MTRFR	ORPHA:320375
HP:0007010	Poor fine motor coordination	1523	CUX1	OMIM:618330
HP:0007010	Poor fine motor coordination	51109	RDH11	ORPHA:436245
HP:0007010	Poor fine motor coordination	54332	GDAP1	ORPHA:99948
HP:0007010	Poor fine motor coordination	2395	FXN	ORPHA:95
HP:0007010	Poor fine motor coordination	9927	MFN2	ORPHA:99947
HP:0007010	Poor fine motor coordination	112755	STX1B	ORPHA:36387
HP:0007010	Poor fine motor coordination	2563	GABRD	ORPHA:36387
HP:0007010	Poor fine motor coordination	112476	PRRT2	ORPHA:36387
HP:0007010	Poor fine motor coordination	348980	HCN1	ORPHA:36387
HP:0007010	Poor fine motor coordination	2258	FGF13	ORPHA:36387
HP:0007010	Poor fine motor coordination	84059	ADGRV1	ORPHA:36387
HP:0007010	Poor fine motor coordination	267010	RNU12	ORPHA:512260
HP:0007011	Fourth cranial nerve palsy	64072	CDH23	ORPHA:91347
HP:0007011	Fourth cranial nerve palsy	64072	CDH23	ORPHA:2965
HP:0007011	Fourth cranial nerve palsy	4221	MEN1	ORPHA:2965
HP:0007011	Fourth cranial nerve palsy	9049	AIP	ORPHA:2965
HP:0007011	Fourth cranial nerve palsy	8314	BAP1	ORPHA:50251
HP:0007182	Peripheral hypomyelination	3766	KCNJ10	ORPHA:199343
HP:0007182	Peripheral hypomyelination	3766	KCNJ10	OMIM:612780
HP:0007182	Peripheral hypomyelination	9150	CTDP1	OMIM:604168
HP:0007182	Peripheral hypomyelination	9150	CTDP1	ORPHA:48431
HP:0007182	Peripheral hypomyelination	8449	DHX16	OMIM:618733
HP:0007182	Peripheral hypomyelination	1959	EGR2	OMIM:605253
HP:0007182	Peripheral hypomyelination	9896	FIG4	OMIM:611228
HP:0007182	Peripheral hypomyelination	6663	SOX10	OMIM:609136
HP:0007182	Peripheral hypomyelination	121512	FGD4	OMIM:609311
HP:0007182	Peripheral hypomyelination	112	ADCY6	OMIM:616287
HP:0007182	Peripheral hypomyelination	3098	HK1	OMIM:605285
HP:0003383	Onion bulb formation	54332	GDAP1	OMIM:607706
HP:0003383	Onion bulb formation	54332	GDAP1	OMIM:214400
HP:0003383	Onion bulb formation	54332	GDAP1	OMIM:608340
HP:0003383	Onion bulb formation	4359	MPZ	OMIM:618184
HP:0003383	Onion bulb formation	4359	MPZ	OMIM:118200
HP:0003383	Onion bulb formation	4359	MPZ	OMIM:180800
HP:0003383	Onion bulb formation	4359	MPZ	OMIM:145900
HP:0003383	Onion bulb formation	4000	LMNA	OMIM:605588
HP:0003383	Onion bulb formation	91574	MTRFR	OMIM:615035
HP:0003383	Onion bulb formation	91574	MTRFR	ORPHA:320375
HP:0003383	Onion bulb formation	5631	PRPS1	OMIM:311070
HP:0003383	Onion bulb formation	9927	MFN2	OMIM:609260
HP:0003383	Onion bulb formation	10939	AFG3L2	OMIM:614487
HP:0003383	Onion bulb formation	50717	DCAF8	OMIM:610100
HP:0003383	Onion bulb formation	5376	PMP22	OMIM:118220
HP:0003383	Onion bulb formation	5376	PMP22	OMIM:180800
HP:0003383	Onion bulb formation	5376	PMP22	ORPHA:98916
HP:0003383	Onion bulb formation	5376	PMP22	OMIM:145900
HP:0003383	Onion bulb formation	9639	ARHGEF10	OMIM:608236
HP:0003383	Onion bulb formation	4747	NEFL	OMIM:607684
HP:0003383	Onion bulb formation	4747	NEFL	OMIM:607734
HP:0003383	Onion bulb formation	10397	NDRG1	OMIM:601455
HP:0003383	Onion bulb formation	6305	SBF1	OMIM:615284
HP:0003383	Onion bulb formation	59345	GNB4	OMIM:615185
HP:0003383	Onion bulb formation	5375	PMP2	OMIM:618279
HP:0003383	Onion bulb formation	23095	KIF1B	OMIM:118210
HP:0003383	Onion bulb formation	2705	GJB1	OMIM:302800
HP:0003383	Onion bulb formation	64423	INF2	OMIM:614455
HP:0003383	Onion bulb formation	57716	PRX	OMIM:614895
HP:0003383	Onion bulb formation	57716	PRX	OMIM:145900
HP:0003383	Onion bulb formation	1337	COX6A1	OMIM:616039
HP:0003383	Onion bulb formation	84668	HYCC1	OMIM:610532
HP:0003383	Onion bulb formation	1959	EGR2	OMIM:605253
HP:0003383	Onion bulb formation	1959	EGR2	OMIM:145900
HP:0003383	Onion bulb formation	9896	FIG4	OMIM:611228
HP:0003383	Onion bulb formation	81846	SBF2	OMIM:604563
HP:0003383	Onion bulb formation	8565	YARS1	OMIM:608323
HP:0003383	Onion bulb formation	1785	DNM2	OMIM:606482
HP:0003383	Onion bulb formation	9516	LITAF	OMIM:601098
HP:0003383	Onion bulb formation	121512	FGD4	OMIM:609311
HP:0003383	Onion bulb formation	26278	SACS	OMIM:270550
HP:0003383	Onion bulb formation	9990	SLC12A6	OMIM:218000
HP:0003383	Onion bulb formation	8729	GBF1	OMIM:606483
HP:0003383	Onion bulb formation	79628	SH3TC2	OMIM:601596
HP:0002078	Truncal ataxia	10128	LRPPRC	OMIM:220111
HP:0002078	Truncal ataxia	773	CACNA1A	OMIM:183086
HP:0002078	Truncal ataxia	4287	ATXN3	OMIM:109150
HP:0002078	Truncal ataxia	10466	COG5	ORPHA:263487
HP:0002078	Truncal ataxia	10466	COG5	OMIM:613612
HP:0002078	Truncal ataxia	1173	AP2M1	OMIM:618587
HP:0002078	Truncal ataxia	4574	MT-TS1	OMIM:220110
HP:0002078	Truncal ataxia	4570	MT-TN	OMIM:220110
HP:0002078	Truncal ataxia	6834	SURF1	OMIM:220110
HP:0002078	Truncal ataxia	9420	CYP7B1	ORPHA:100986
HP:0002078	Truncal ataxia	55532	SLC30A10	ORPHA:309854
HP:0002078	Truncal ataxia	124997	WDR81	OMIM:610185
HP:0002078	Truncal ataxia	2895	GRID2	OMIM:616204
HP:0002078	Truncal ataxia	2895	GRID2	ORPHA:363432
HP:0002078	Truncal ataxia	60684	TRAPPC11	OMIM:615356
HP:0002078	Truncal ataxia	60684	TRAPPC11	ORPHA:369840
HP:0002078	Truncal ataxia	60684	TRAPPC11	ORPHA:369847
HP:0002078	Truncal ataxia	57704	GBA2	ORPHA:352641
HP:0002078	Truncal ataxia	57704	GBA2	ORPHA:320391
HP:0002078	Truncal ataxia	785	CACNB4	OMIM:613855
HP:0002078	Truncal ataxia	785	CACNB4	OMIM:607682
HP:0002078	Truncal ataxia	785	CACNB4	ORPHA:211067
HP:0002078	Truncal ataxia	5428	POLG	OMIM:258450
HP:0002078	Truncal ataxia	85300	ATCAY	ORPHA:94122
HP:0002078	Truncal ataxia	85300	ATCAY	OMIM:601238
HP:0002078	Truncal ataxia	6712	SPTBN2	ORPHA:352403
HP:0002078	Truncal ataxia	10479	SLC9A6	OMIM:300243
HP:0002078	Truncal ataxia	10479	SLC9A6	ORPHA:85278
HP:0002078	Truncal ataxia	26275	HIBCH	ORPHA:88639
HP:0002078	Truncal ataxia	26275	HIBCH	OMIM:250620
HP:0002078	Truncal ataxia	478	ATP1A3	OMIM:601338
HP:0002078	Truncal ataxia	10528	NOP56	OMIM:614153
HP:0002078	Truncal ataxia	10528	NOP56	ORPHA:276198
HP:0002078	Truncal ataxia	10273	STUB1	OMIM:615768
HP:0002078	Truncal ataxia	10273	STUB1	ORPHA:412057
HP:0002078	Truncal ataxia	5610	EIF2AK2	OMIM:618877
HP:0002078	Truncal ataxia	6507	SLC1A3	OMIM:612656
HP:0002078	Truncal ataxia	25885	POLR1A	OMIM:620675
HP:0002078	Truncal ataxia	154881	KCTD7	OMIM:611726
HP:0002078	Truncal ataxia	10166	SLC25A15	OMIM:238970
HP:0002078	Truncal ataxia	1340	COX6B1	OMIM:619051
HP:0002078	Truncal ataxia	146057	TTBK2	OMIM:604432
HP:0002078	Truncal ataxia	9289	ADGRG1	OMIM:606854
HP:0002078	Truncal ataxia	1600	DAB1	ORPHA:363710
HP:0002078	Truncal ataxia	55154	MSTO1	OMIM:617675
HP:0002078	Truncal ataxia	7436	VLDLR	OMIM:224050
HP:0002078	Truncal ataxia	267010	RNU12	OMIM:620208
HP:0002078	Truncal ataxia	55157	DARS2	ORPHA:137898
HP:0002078	Truncal ataxia	51079	NDUFA13	OMIM:618249
HP:0002078	Truncal ataxia	7276	TTR	OMIM:105210
HP:0002078	Truncal ataxia	55187	VPS13D	ORPHA:95434
HP:0002078	Truncal ataxia	27072	VPS41	ORPHA:95434
HP:0002078	Truncal ataxia	215	ABCD1	OMIM:300100
HP:0002078	Truncal ataxia	10715	CERS1	OMIM:616230
HP:0002078	Truncal ataxia	84504	NKX6-2	OMIM:617560
HP:0002078	Truncal ataxia	5277	PIGA	OMIM:300868
HP:0002078	Truncal ataxia	51761	ATP8A2	OMIM:615268
HP:0002078	Truncal ataxia	54840	APTX	OMIM:208920
HP:0002078	Truncal ataxia	27010	TPK1	OMIM:614458
HP:0002078	Truncal ataxia	492	ATP2B3	ORPHA:314978
HP:0002078	Truncal ataxia	113278	SLC52A3	OMIM:211530
HP:0002078	Truncal ataxia	5192	PEX10	ORPHA:247815
HP:0002078	Truncal ataxia	3752	KCND3	ORPHA:98772
HP:0002078	Truncal ataxia	3752	KCND3	OMIM:607346
HP:0002078	Truncal ataxia	1938	EEF2	OMIM:609306
HP:0002078	Truncal ataxia	1938	EEF2	ORPHA:101112
HP:0002078	Truncal ataxia	253738	EBF3	OMIM:617330
HP:0002078	Truncal ataxia	339983	NAT8L	OMIM:614063
HP:0002078	Truncal ataxia	55280	CWF19L1	OMIM:616127
HP:0002078	Truncal ataxia	55280	CWF19L1	ORPHA:453521
HP:0002078	Truncal ataxia	131669	UROC1	OMIM:276880
HP:0002078	Truncal ataxia	131669	UROC1	ORPHA:210128
HP:0002078	Truncal ataxia	255928	SYT14	OMIM:614229
HP:0002078	Truncal ataxia	255928	SYT14	ORPHA:284271
HP:0002078	Truncal ataxia	3035	HARS1	OMIM:614504
HP:0002078	Truncal ataxia	11128	POLR3A	OMIM:264090
HP:0002078	Truncal ataxia	11128	POLR3A	ORPHA:3455
HP:0002078	Truncal ataxia	2259	FGF14	ORPHA:98764
HP:0002078	Truncal ataxia	83475	DOHH	OMIM:620066
HP:0002078	Truncal ataxia	1822	ATN1	ORPHA:101
HP:0002078	Truncal ataxia	22983	MAST1	OMIM:618273
HP:0002078	Truncal ataxia	6472	SHMT2	OMIM:619121
HP:0002078	Truncal ataxia	53335	BCL11A	OMIM:617101
HP:0002078	Truncal ataxia	9474	ATG5	OMIM:617584
HP:0002078	Truncal ataxia	3708	ITPR1	OMIM:117360
HP:0002078	Truncal ataxia	3708	ITPR1	OMIM:606658
HP:0002078	Truncal ataxia	84919	PPP1R15B	OMIM:616817
HP:0002078	Truncal ataxia	55129	ANO10	ORPHA:284289
HP:0002078	Truncal ataxia	55129	ANO10	OMIM:613728
HP:0002078	Truncal ataxia	5621	PRNP	OMIM:137440
HP:0002078	Truncal ataxia	6389	SDHA	OMIM:619259
HP:0002078	Truncal ataxia	6389	SDHA	OMIM:252011
HP:0002078	Truncal ataxia	200403	VWA3B	OMIM:616948
HP:0002078	Truncal ataxia	153241	CEP120	OMIM:617761
HP:0002078	Truncal ataxia	4204	MECP2	OMIM:312750
HP:0002078	Truncal ataxia	4976	OPA1	OMIM:210000
HP:0002078	Truncal ataxia	6310	ATXN1	OMIM:164400
HP:0002078	Truncal ataxia	26278	SACS	OMIM:270550
HP:0007015	Poor gross motor coordination	1641	DCX	ORPHA:2148
HP:0007015	Poor gross motor coordination	29925	GMPPB	ORPHA:370968
HP:0007015	Poor gross motor coordination	79147	FKRP	ORPHA:370968
HP:0007015	Poor gross motor coordination	29954	POMT2	ORPHA:370968
HP:0007015	Poor gross motor coordination	9215	LARGE1	ORPHA:370968
HP:0007015	Poor gross motor coordination	10585	POMT1	ORPHA:370968
HP:0007015	Poor gross motor coordination	3785	KCNQ2	ORPHA:439218
HP:0007015	Poor gross motor coordination	23261	CAMTA1	OMIM:614756
HP:0007015	Poor gross motor coordination	54332	GDAP1	ORPHA:99948
HP:0007015	Poor gross motor coordination	93986	FOXP2	ORPHA:209908
HP:0007015	Poor gross motor coordination	8050	PDHX	OMIM:245349
HP:0007015	Poor gross motor coordination	100033413	SNORD116-1	OMIM:176270
HP:0007015	Poor gross motor coordination	8924	HERC2	OMIM:176270
HP:0007015	Poor gross motor coordination	23742	NPAP1	OMIM:176270
HP:0007015	Poor gross motor coordination	338433	SNORD115-1	OMIM:176270
HP:0007015	Poor gross motor coordination	54551	MAGEL2	OMIM:176270
HP:0007015	Poor gross motor coordination	7681	MKRN3	OMIM:176270
HP:0007015	Poor gross motor coordination	145624	PWAR1	OMIM:176270
HP:0007015	Poor gross motor coordination	3653	IPW	OMIM:176270
HP:0007015	Poor gross motor coordination	791114	PWRN1	OMIM:176270
HP:0007016	Corticospinal tract hypoplasia	5162	PDHB	ORPHA:255138
HP:0007016	Corticospinal tract hypoplasia	3897	L1CAM	OMIM:307000
HP:0007017	Progressive forgetfulness	5621	PRNP	ORPHA:282166
HP:0007017	Progressive forgetfulness	11277	TREX1	OMIM:192315
HP:0007018	Attention deficit hyperactivity disorder	11198	SUPT16H	ORPHA:261229
HP:0007018	Attention deficit hyperactivity disorder	57680	CHD8	ORPHA:261229
HP:0007018	Attention deficit hyperactivity disorder	57680	CHD8	OMIM:615032
HP:0007018	Attention deficit hyperactivity disorder	128	ADH5	OMIM:619151
HP:0007018	Attention deficit hyperactivity disorder	7528	YY1	ORPHA:506358
HP:0007018	Attention deficit hyperactivity disorder	7528	YY1	OMIM:617557
HP:0007018	Attention deficit hyperactivity disorder	7337	UBE3A	ORPHA:238446
HP:0007018	Attention deficit hyperactivity disorder	25970	SH2B1	ORPHA:261222
HP:0007018	Attention deficit hyperactivity disorder	25970	SH2B1	ORPHA:261197
HP:0007018	Attention deficit hyperactivity disorder	8036	SHOC2	OMIM:607721
HP:0007018	Attention deficit hyperactivity disorder	6535	SLC6A8	OMIM:300352
HP:0007018	Attention deficit hyperactivity disorder	6513	SLC2A1	ORPHA:64280
HP:0007018	Attention deficit hyperactivity disorder	6513	SLC2A1	ORPHA:1942
HP:0007018	Attention deficit hyperactivity disorder	2562	GABRB3	ORPHA:64280
HP:0007018	Attention deficit hyperactivity disorder	2562	GABRB3	OMIM:617113
HP:0007018	Attention deficit hyperactivity disorder	2554	GABRA1	ORPHA:64280
HP:0007018	Attention deficit hyperactivity disorder	8912	CACNA1H	ORPHA:64280
HP:0007018	Attention deficit hyperactivity disorder	8629	JRK	ORPHA:64280
HP:0007018	Attention deficit hyperactivity disorder	2566	GABRG2	ORPHA:64280
HP:0007018	Attention deficit hyperactivity disorder	2566	GABRG2	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	2566	GABRG2	ORPHA:1945
HP:0007018	Attention deficit hyperactivity disorder	23394	ADNP	ORPHA:404448
HP:0007018	Attention deficit hyperactivity disorder	23394	ADNP	OMIM:615873
HP:0007018	Attention deficit hyperactivity disorder	26960	NBEA	OMIM:619157
HP:0007018	Attention deficit hyperactivity disorder	8367	H4C5	OMIM:619950
HP:0007018	Attention deficit hyperactivity disorder	1139	CHRNA7	ORPHA:199318
HP:0007018	Attention deficit hyperactivity disorder	1000	CDH2	OMIM:619957
HP:0007018	Attention deficit hyperactivity disorder	1000	CDH2	OMIM:618929
HP:0007018	Attention deficit hyperactivity disorder	1024	CDK8	OMIM:618748
HP:0007018	Attention deficit hyperactivity disorder	161742	SPRED1	OMIM:611431
HP:0007018	Attention deficit hyperactivity disorder	161742	SPRED1	ORPHA:137605
HP:0007018	Attention deficit hyperactivity disorder	775	CACNA1C	OMIM:620029
HP:0007018	Attention deficit hyperactivity disorder	10973	ASCC3	OMIM:620700
HP:0007018	Attention deficit hyperactivity disorder	91801	ALKBH8	OMIM:618504
HP:0007018	Attention deficit hyperactivity disorder	7068	THRB	OMIM:274300
HP:0007018	Attention deficit hyperactivity disorder	7068	THRB	ORPHA:566243
HP:0007018	Attention deficit hyperactivity disorder	7068	THRB	OMIM:188570
HP:0007018	Attention deficit hyperactivity disorder	118987	PDZD8	OMIM:620021
HP:0007018	Attention deficit hyperactivity disorder	64324	NSD1	ORPHA:821
HP:0007018	Attention deficit hyperactivity disorder	64324	NSD1	OMIM:117550
HP:0007018	Attention deficit hyperactivity disorder	10297	APC2	ORPHA:821
HP:0007018	Attention deficit hyperactivity disorder	55209	SETD5	ORPHA:404440
HP:0007018	Attention deficit hyperactivity disorder	10093	ARPC4	OMIM:620141
HP:0007018	Attention deficit hyperactivity disorder	6687	SPG7	ORPHA:99013
HP:0007018	Attention deficit hyperactivity disorder	4072	EPCAM	ORPHA:144
HP:0007018	Attention deficit hyperactivity disorder	4292	MLH1	ORPHA:144
HP:0007018	Attention deficit hyperactivity disorder	5395	PMS2	ORPHA:144
HP:0007018	Attention deficit hyperactivity disorder	7048	TGFBR2	ORPHA:144
HP:0007018	Attention deficit hyperactivity disorder	3845	KRAS	ORPHA:144
HP:0007018	Attention deficit hyperactivity disorder	5290	PIK3CA	ORPHA:144
HP:0007018	Attention deficit hyperactivity disorder	2956	MSH6	ORPHA:144
HP:0007018	Attention deficit hyperactivity disorder	5378	PMS1	ORPHA:144
HP:0007018	Attention deficit hyperactivity disorder	4436	MSH2	ORPHA:144
HP:0007018	Attention deficit hyperactivity disorder	49855	SCAPER	OMIM:618195
HP:0007018	Attention deficit hyperactivity disorder	4774	NFIA	ORPHA:401986
HP:0007018	Attention deficit hyperactivity disorder	116931	MED12L	OMIM:618872
HP:0007018	Attention deficit hyperactivity disorder	3199	HOXA2	ORPHA:83463
HP:0007018	Attention deficit hyperactivity disorder	9578	CDC42BPB	OMIM:619841
HP:0007018	Attention deficit hyperactivity disorder	613	BCR	ORPHA:261330
HP:0007018	Attention deficit hyperactivity disorder	1399	CRKL	ORPHA:261330
HP:0007018	Attention deficit hyperactivity disorder	5594	MAPK1	ORPHA:261330
HP:0007018	Attention deficit hyperactivity disorder	5594	MAPK1	OMIM:619087
HP:0007018	Attention deficit hyperactivity disorder	5728	PTEN	ORPHA:210548
HP:0007018	Attention deficit hyperactivity disorder	220296	HEPACAM	ORPHA:210548
HP:0007018	Attention deficit hyperactivity disorder	55790	CSGALNACT1	OMIM:618870
HP:0007018	Attention deficit hyperactivity disorder	64218	SEMA4A	ORPHA:440437
HP:0007018	Attention deficit hyperactivity disorder	472	ATM	ORPHA:440437
HP:0007018	Attention deficit hyperactivity disorder	5426	POLE	ORPHA:440437
HP:0007018	Attention deficit hyperactivity disorder	675	BRCA2	ORPHA:440437
HP:0007018	Attention deficit hyperactivity disorder	657	BMPR1A	ORPHA:440437
HP:0007018	Attention deficit hyperactivity disorder	6224	RPS20	ORPHA:440437
HP:0007018	Attention deficit hyperactivity disorder	4595	MUTYH	ORPHA:440437
HP:0007018	Attention deficit hyperactivity disorder	5424	POLD1	ORPHA:440437
HP:0007018	Attention deficit hyperactivity disorder	11200	CHEK2	ORPHA:440437
HP:0007018	Attention deficit hyperactivity disorder	477	ATP1A2	OMIM:619605
HP:0007018	Attention deficit hyperactivity disorder	477	ATP1A2	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	51111	KMT5B	OMIM:617788
HP:0007018	Attention deficit hyperactivity disorder	80155	NAA15	OMIM:617787
HP:0007018	Attention deficit hyperactivity disorder	7532	YWHAG	OMIM:617665
HP:0007018	Attention deficit hyperactivity disorder	7532	YWHAG	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	10730	YME1L1	OMIM:617302
HP:0007018	Attention deficit hyperactivity disorder	5159	PDGFRB	OMIM:615007
HP:0007018	Attention deficit hyperactivity disorder	2314	FLII	ORPHA:819
HP:0007018	Attention deficit hyperactivity disorder	23096	IQSEC2	ORPHA:819
HP:0007018	Attention deficit hyperactivity disorder	10743	RAI1	ORPHA:819
HP:0007018	Attention deficit hyperactivity disorder	10743	RAI1	ORPHA:1713
HP:0007018	Attention deficit hyperactivity disorder	10522	DEAF1	ORPHA:819
HP:0007018	Attention deficit hyperactivity disorder	10847	SRCAP	ORPHA:2044
HP:0007018	Attention deficit hyperactivity disorder	5689	PSMB1	OMIM:620038
HP:0007018	Attention deficit hyperactivity disorder	27102	EIF2AK1	OMIM:618878
HP:0007018	Attention deficit hyperactivity disorder	1717	DHCR7	ORPHA:818
HP:0007018	Attention deficit hyperactivity disorder	3781	KCNN2	OMIM:619725
HP:0007018	Attention deficit hyperactivity disorder	7086	TKT	ORPHA:488618
HP:0007018	Attention deficit hyperactivity disorder	7086	TKT	OMIM:617044
HP:0007018	Attention deficit hyperactivity disorder	55636	CHD7	ORPHA:138
HP:0007018	Attention deficit hyperactivity disorder	9723	SEMA3E	ORPHA:138
HP:0007018	Attention deficit hyperactivity disorder	7252	TSHB	ORPHA:90674
HP:0007018	Attention deficit hyperactivity disorder	6595	SMARCA2	OMIM:619293
HP:0007018	Attention deficit hyperactivity disorder	6595	SMARCA2	OMIM:601358
HP:0007018	Attention deficit hyperactivity disorder	6660	SOX5	ORPHA:313892
HP:0007018	Attention deficit hyperactivity disorder	57589	RIC1	OMIM:618761
HP:0007018	Attention deficit hyperactivity disorder	535	ATP6V0A1	OMIM:619971
HP:0007018	Attention deficit hyperactivity disorder	3190	HNRNPK	OMIM:616580
HP:0007018	Attention deficit hyperactivity disorder	284058	KANSL1	ORPHA:363958
HP:0007018	Attention deficit hyperactivity disorder	284058	KANSL1	ORPHA:363965
HP:0007018	Attention deficit hyperactivity disorder	347733	TUBB2B	ORPHA:300573
HP:0007018	Attention deficit hyperactivity disorder	347733	TUBB2B	ORPHA:467166
HP:0007018	Attention deficit hyperactivity disorder	340024	SLC6A19	OMIM:234500
HP:0007018	Attention deficit hyperactivity disorder	9968	MED12	ORPHA:93932
HP:0007018	Attention deficit hyperactivity disorder	9968	MED12	OMIM:305450
HP:0007018	Attention deficit hyperactivity disorder	9968	MED12	ORPHA:776
HP:0007018	Attention deficit hyperactivity disorder	51319	RSRC1	OMIM:618402
HP:0007018	Attention deficit hyperactivity disorder	412	STS	ORPHA:281090
HP:0007018	Attention deficit hyperactivity disorder	412	STS	ORPHA:461
HP:0007018	Attention deficit hyperactivity disorder	1009	CDH11	OMIM:619736
HP:0007018	Attention deficit hyperactivity disorder	3973	LHCGR	ORPHA:3000
HP:0007018	Attention deficit hyperactivity disorder	2626	GATA4	ORPHA:251071
HP:0007018	Attention deficit hyperactivity disorder	26523	AGO1	OMIM:620292
HP:0007018	Attention deficit hyperactivity disorder	6899	TBX1	OMIM:188400
HP:0007018	Attention deficit hyperactivity disorder	6899	TBX1	ORPHA:1727
HP:0007018	Attention deficit hyperactivity disorder	6899	TBX1	ORPHA:567
HP:0007018	Attention deficit hyperactivity disorder	215	ABCD1	OMIM:300100
HP:0007018	Attention deficit hyperactivity disorder	4763	NF1	ORPHA:363700
HP:0007018	Attention deficit hyperactivity disorder	26053	AUTS2	ORPHA:352490
HP:0007018	Attention deficit hyperactivity disorder	833	CARS1	OMIM:618891
HP:0007018	Attention deficit hyperactivity disorder	23036	ZNF292	OMIM:619188
HP:0007018	Attention deficit hyperactivity disorder	57178	ZMIZ1	OMIM:618659
HP:0007018	Attention deficit hyperactivity disorder	79813	EHMT1	OMIM:610253
HP:0007018	Attention deficit hyperactivity disorder	28514	DLL1	ORPHA:93926
HP:0007018	Attention deficit hyperactivity disorder	28514	DLL1	ORPHA:93924
HP:0007018	Attention deficit hyperactivity disorder	28514	DLL1	ORPHA:93925
HP:0007018	Attention deficit hyperactivity disorder	28514	DLL1	OMIM:618709
HP:0007018	Attention deficit hyperactivity disorder	28514	DLL1	ORPHA:220386
HP:0007018	Attention deficit hyperactivity disorder	2253	FGF8	ORPHA:93926
HP:0007018	Attention deficit hyperactivity disorder	2253	FGF8	ORPHA:93924
HP:0007018	Attention deficit hyperactivity disorder	2253	FGF8	ORPHA:93925
HP:0007018	Attention deficit hyperactivity disorder	2253	FGF8	ORPHA:220386
HP:0007018	Attention deficit hyperactivity disorder	6496	SIX3	ORPHA:93926
HP:0007018	Attention deficit hyperactivity disorder	6496	SIX3	ORPHA:93924
HP:0007018	Attention deficit hyperactivity disorder	6496	SIX3	ORPHA:93925
HP:0007018	Attention deficit hyperactivity disorder	6496	SIX3	ORPHA:220386
HP:0007018	Attention deficit hyperactivity disorder	7050	TGIF1	ORPHA:93926
HP:0007018	Attention deficit hyperactivity disorder	7050	TGIF1	ORPHA:93924
HP:0007018	Attention deficit hyperactivity disorder	7050	TGIF1	ORPHA:93925
HP:0007018	Attention deficit hyperactivity disorder	7050	TGIF1	ORPHA:220386
HP:0007018	Attention deficit hyperactivity disorder	4838	NODAL	ORPHA:93926
HP:0007018	Attention deficit hyperactivity disorder	4838	NODAL	ORPHA:93924
HP:0007018	Attention deficit hyperactivity disorder	4838	NODAL	ORPHA:93925
HP:0007018	Attention deficit hyperactivity disorder	4838	NODAL	ORPHA:220386
HP:0007018	Attention deficit hyperactivity disorder	6469	SHH	ORPHA:93926
HP:0007018	Attention deficit hyperactivity disorder	6469	SHH	ORPHA:93924
HP:0007018	Attention deficit hyperactivity disorder	6469	SHH	ORPHA:93925
HP:0007018	Attention deficit hyperactivity disorder	6469	SHH	ORPHA:220386
HP:0007018	Attention deficit hyperactivity disorder	7546	ZIC2	ORPHA:93926
HP:0007018	Attention deficit hyperactivity disorder	7546	ZIC2	ORPHA:93924
HP:0007018	Attention deficit hyperactivity disorder	7546	ZIC2	ORPHA:93925
HP:0007018	Attention deficit hyperactivity disorder	7546	ZIC2	ORPHA:220386
HP:0007018	Attention deficit hyperactivity disorder	6491	STIL	ORPHA:93926
HP:0007018	Attention deficit hyperactivity disorder	6491	STIL	ORPHA:93924
HP:0007018	Attention deficit hyperactivity disorder	6491	STIL	ORPHA:93925
HP:0007018	Attention deficit hyperactivity disorder	6491	STIL	ORPHA:220386
HP:0007018	Attention deficit hyperactivity disorder	2619	GAS1	ORPHA:93926
HP:0007018	Attention deficit hyperactivity disorder	2619	GAS1	ORPHA:93924
HP:0007018	Attention deficit hyperactivity disorder	2619	GAS1	ORPHA:93925
HP:0007018	Attention deficit hyperactivity disorder	2619	GAS1	ORPHA:220386
HP:0007018	Attention deficit hyperactivity disorder	84976	DISP1	ORPHA:93926
HP:0007018	Attention deficit hyperactivity disorder	84976	DISP1	ORPHA:93924
HP:0007018	Attention deficit hyperactivity disorder	84976	DISP1	ORPHA:93925
HP:0007018	Attention deficit hyperactivity disorder	84976	DISP1	ORPHA:220386
HP:0007018	Attention deficit hyperactivity disorder	2736	GLI2	ORPHA:93926
HP:0007018	Attention deficit hyperactivity disorder	2736	GLI2	ORPHA:93924
HP:0007018	Attention deficit hyperactivity disorder	2736	GLI2	ORPHA:93925
HP:0007018	Attention deficit hyperactivity disorder	2736	GLI2	ORPHA:220386
HP:0007018	Attention deficit hyperactivity disorder	8928	FOXH1	ORPHA:93926
HP:0007018	Attention deficit hyperactivity disorder	8928	FOXH1	ORPHA:93924
HP:0007018	Attention deficit hyperactivity disorder	8928	FOXH1	ORPHA:93925
HP:0007018	Attention deficit hyperactivity disorder	8928	FOXH1	ORPHA:220386
HP:0007018	Attention deficit hyperactivity disorder	6997	CRIPTO	ORPHA:93926
HP:0007018	Attention deficit hyperactivity disorder	6997	CRIPTO	ORPHA:93924
HP:0007018	Attention deficit hyperactivity disorder	6997	CRIPTO	ORPHA:93925
HP:0007018	Attention deficit hyperactivity disorder	6997	CRIPTO	ORPHA:220386
HP:0007018	Attention deficit hyperactivity disorder	5727	PTCH1	ORPHA:93926
HP:0007018	Attention deficit hyperactivity disorder	5727	PTCH1	ORPHA:93924
HP:0007018	Attention deficit hyperactivity disorder	5727	PTCH1	ORPHA:93925
HP:0007018	Attention deficit hyperactivity disorder	5727	PTCH1	ORPHA:220386
HP:0007018	Attention deficit hyperactivity disorder	50937	CDON	ORPHA:93926
HP:0007018	Attention deficit hyperactivity disorder	50937	CDON	ORPHA:93924
HP:0007018	Attention deficit hyperactivity disorder	50937	CDON	ORPHA:93925
HP:0007018	Attention deficit hyperactivity disorder	50937	CDON	ORPHA:220386
HP:0007018	Attention deficit hyperactivity disorder	2260	FGFR1	ORPHA:93924
HP:0007018	Attention deficit hyperactivity disorder	2260	FGFR1	ORPHA:220386
HP:0007018	Attention deficit hyperactivity disorder	26057	ANKRD17	OMIM:619504
HP:0007018	Attention deficit hyperactivity disorder	23007	PLCH1	ORPHA:93925
HP:0007018	Attention deficit hyperactivity disorder	10735	STAG2	ORPHA:93925
HP:0007018	Attention deficit hyperactivity disorder	10735	STAG2	OMIM:301022
HP:0007018	Attention deficit hyperactivity disorder	10735	STAG2	ORPHA:220386
HP:0007018	Attention deficit hyperactivity disorder	2903	GRIN2A	ORPHA:98818
HP:0007018	Attention deficit hyperactivity disorder	2903	GRIN2A	OMIM:245570
HP:0007018	Attention deficit hyperactivity disorder	2903	GRIN2A	ORPHA:1945
HP:0007018	Attention deficit hyperactivity disorder	3737	KCNA2	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	1759	DNM1	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	8120	AP3B2	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	523	ATP6V1A	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	10991	SLC38A3	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	51343	FZR1	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	3747	KCNC2	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	1917	EEF1A2	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	23219	FBXO28	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	2561	GABRB2	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	8831	SYNGAP1	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	8831	SYNGAP1	ORPHA:1942
HP:0007018	Attention deficit hyperactivity disorder	2558	GABRA5	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	2906	GRIN2D	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	116150	NUS1	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	1213	CLTC	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	1213	CLTC	OMIM:617854
HP:0007018	Attention deficit hyperactivity disorder	51741	WWOX	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	23334	SZT2	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	348980	HCN1	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	348980	HCN1	OMIM:615871
HP:0007018	Attention deficit hyperactivity disorder	25977	NECAP1	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	23241	PACS2	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	16	AARS1	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	6334	SCN8A	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	6334	SCN8A	OMIM:614306
HP:0007018	Attention deficit hyperactivity disorder	9568	GABBR2	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	2555	GABRA2	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	55152	DALRD3	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	26999	CYFIP2	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	4915	NTRK2	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	25973	PARS2	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	23097	CDK19	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	2257	FGF12	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	5530	PPP3CA	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	478	ATP1A3	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	22906	TRAK1	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	79876	UBA5	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	6328	SCN3A	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	6328	SCN3A	OMIM:617935
HP:0007018	Attention deficit hyperactivity disorder	781	CACNA2D1	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	10659	CELF2	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	774	CACNA1B	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	51412	ACTL6B	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	2290	FOXG1	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	6506	SLC1A2	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	8867	SYNJ1	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	3745	KCNB1	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	284111	SLC13A5	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	22866	CNKSR2	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	22866	CNKSR2	OMIM:301008
HP:0007018	Attention deficit hyperactivity disorder	773	CACNA1A	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	6323	SCN1A	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	6323	SCN1A	ORPHA:1942
HP:0007018	Attention deficit hyperactivity disorder	79947	DHDDS	ORPHA:442835
HP:0007018	Attention deficit hyperactivity disorder	25942	SIN3A	OMIM:613406
HP:0007018	Attention deficit hyperactivity disorder	10528	NOP56	ORPHA:276198
HP:0007018	Attention deficit hyperactivity disorder	3981	LIG4	ORPHA:235
HP:0007018	Attention deficit hyperactivity disorder	54888	NSUN2	ORPHA:235
HP:0007018	Attention deficit hyperactivity disorder	4953	ODC1	OMIM:619075
HP:0007018	Attention deficit hyperactivity disorder	4953	ODC1	ORPHA:544488
HP:0007018	Attention deficit hyperactivity disorder	2746	GLUD1	ORPHA:35878
HP:0007018	Attention deficit hyperactivity disorder	30011	SH3KBP1	OMIM:300310
HP:0007018	Attention deficit hyperactivity disorder	84138	SLC7A6OS	OMIM:619191
HP:0007018	Attention deficit hyperactivity disorder	7025	NR2F1	ORPHA:401777
HP:0007018	Attention deficit hyperactivity disorder	8493	PPM1D	OMIM:617450
HP:0007018	Attention deficit hyperactivity disorder	26038	CHD5	OMIM:619873
HP:0007018	Attention deficit hyperactivity disorder	29081	METTL5	OMIM:618665
HP:0007018	Attention deficit hyperactivity disorder	23126	POGZ	OMIM:616364
HP:0007018	Attention deficit hyperactivity disorder	55773	TBC1D23	OMIM:617695
HP:0007018	Attention deficit hyperactivity disorder	1593	CYP27A1	ORPHA:909
HP:0007018	Attention deficit hyperactivity disorder	2332	FMR1	ORPHA:908
HP:0007018	Attention deficit hyperactivity disorder	2332	FMR1	ORPHA:449291
HP:0007018	Attention deficit hyperactivity disorder	9354	UBE4A	OMIM:619639
HP:0007018	Attention deficit hyperactivity disorder	2550	GABBR1	OMIM:620502
HP:0007018	Attention deficit hyperactivity disorder	6804	STX1A	ORPHA:904
HP:0007018	Attention deficit hyperactivity disorder	7461	CLIP2	ORPHA:904
HP:0007018	Attention deficit hyperactivity disorder	84277	DNAJC30	ORPHA:904
HP:0007018	Attention deficit hyperactivity disorder	8468	FKBP6	ORPHA:904
HP:0007018	Attention deficit hyperactivity disorder	5982	RFC2	ORPHA:904
HP:0007018	Attention deficit hyperactivity disorder	2969	GTF2I	ORPHA:904
HP:0007018	Attention deficit hyperactivity disorder	3984	LIMK1	ORPHA:904
HP:0007018	Attention deficit hyperactivity disorder	9569	GTF2IRD1	ORPHA:904
HP:0007018	Attention deficit hyperactivity disorder	155382	VPS37D	ORPHA:904
HP:0007018	Attention deficit hyperactivity disorder	155368	METTL27	ORPHA:904
HP:0007018	Attention deficit hyperactivity disorder	114049	BUD23	ORPHA:904
HP:0007018	Attention deficit hyperactivity disorder	7458	EIF4H	ORPHA:904
HP:0007018	Attention deficit hyperactivity disorder	84163	GTF2IRD2	ORPHA:904
HP:0007018	Attention deficit hyperactivity disorder	26608	TBL2	ORPHA:904
HP:0007018	Attention deficit hyperactivity disorder	653361	NCF1	ORPHA:904
HP:0007018	Attention deficit hyperactivity disorder	135886	TMEM270	ORPHA:904
HP:0007018	Attention deficit hyperactivity disorder	9031	BAZ1B	ORPHA:904
HP:0007018	Attention deficit hyperactivity disorder	2006	ELN	ORPHA:904
HP:0007018	Attention deficit hyperactivity disorder	2006	ELN	OMIM:194050
HP:0007018	Attention deficit hyperactivity disorder	54499	TMCO1	OMIM:213980
HP:0007018	Attention deficit hyperactivity disorder	22859	ADGRL1	OMIM:620065
HP:0007018	Attention deficit hyperactivity disorder	1859	DYRK1A	ORPHA:464311
HP:0007018	Attention deficit hyperactivity disorder	55719	SLF2	OMIM:620184
HP:0007018	Attention deficit hyperactivity disorder	23137	SMC5	OMIM:620185
HP:0007018	Attention deficit hyperactivity disorder	8517	IKBKG	ORPHA:464
HP:0007018	Attention deficit hyperactivity disorder	10236	HNRNPR	OMIM:620073
HP:0007018	Attention deficit hyperactivity disorder	26137	ZBTB20	OMIM:259050
HP:0007018	Attention deficit hyperactivity disorder	2312	FLG	ORPHA:461
HP:0007018	Attention deficit hyperactivity disorder	8314	BAP1	OMIM:619762
HP:0007018	Attention deficit hyperactivity disorder	7750	ZMYM2	OMIM:619522
HP:0007018	Attention deficit hyperactivity disorder	27086	FOXP1	ORPHA:391372
HP:0007018	Attention deficit hyperactivity disorder	27086	FOXP1	OMIM:613670
HP:0007018	Attention deficit hyperactivity disorder	3481	IGF2	ORPHA:397590
HP:0007018	Attention deficit hyperactivity disorder	1028	CDKN1C	ORPHA:397590
HP:0007018	Attention deficit hyperactivity disorder	5324	PLAG1	ORPHA:397590
HP:0007018	Attention deficit hyperactivity disorder	8091	HMGA2	ORPHA:397590
HP:0007018	Attention deficit hyperactivity disorder	23261	CAMTA1	OMIM:614756
HP:0007018	Attention deficit hyperactivity disorder	200424	TET3	OMIM:618798
HP:0007018	Attention deficit hyperactivity disorder	7248	TSC1	OMIM:191100
HP:0007018	Attention deficit hyperactivity disorder	7248	TSC1	ORPHA:805
HP:0007018	Attention deficit hyperactivity disorder	5422	POLA1	ORPHA:163976
HP:0007018	Attention deficit hyperactivity disorder	5422	POLA1	OMIM:301030
HP:0007018	Attention deficit hyperactivity disorder	51085	MLXIPL	OMIM:194050
HP:0007018	Attention deficit hyperactivity disorder	23314	SATB2	ORPHA:576283
HP:0007018	Attention deficit hyperactivity disorder	23314	SATB2	ORPHA:251019
HP:0007018	Attention deficit hyperactivity disorder	51322	WAC	ORPHA:284169
HP:0007018	Attention deficit hyperactivity disorder	51322	WAC	OMIM:616708
HP:0007018	Attention deficit hyperactivity disorder	51322	WAC	ORPHA:466950
HP:0007018	Attention deficit hyperactivity disorder	55120	FANCL	OMIM:614083
HP:0007018	Attention deficit hyperactivity disorder	9922	IQSEC1	OMIM:618687
HP:0007018	Attention deficit hyperactivity disorder	26047	CNTNAP2	OMIM:610042
HP:0007018	Attention deficit hyperactivity disorder	57479	PRR12	OMIM:619539
HP:0007018	Attention deficit hyperactivity disorder	25836	NIPBL	OMIM:122470
HP:0007018	Attention deficit hyperactivity disorder	25836	NIPBL	ORPHA:199
HP:0007018	Attention deficit hyperactivity disorder	9928	KIF14	OMIM:617914
HP:0007018	Attention deficit hyperactivity disorder	3458	IFNG	ORPHA:805
HP:0007018	Attention deficit hyperactivity disorder	3458	IFNG	OMIM:613254
HP:0007018	Attention deficit hyperactivity disorder	7249	TSC2	ORPHA:805
HP:0007018	Attention deficit hyperactivity disorder	7249	TSC2	OMIM:613254
HP:0007018	Attention deficit hyperactivity disorder	54148	MRPL39	OMIM:620646
HP:0007018	Attention deficit hyperactivity disorder	1107	CHD3	OMIM:618205
HP:0007018	Attention deficit hyperactivity disorder	27286	SRPX2	ORPHA:1945
HP:0007018	Attention deficit hyperactivity disorder	3339	HSPG2	ORPHA:800
HP:0007018	Attention deficit hyperactivity disorder	1173	AP2M1	ORPHA:1942
HP:0007018	Attention deficit hyperactivity disorder	340533	NEXMIF	ORPHA:1942
HP:0007018	Attention deficit hyperactivity disorder	1106	CHD2	ORPHA:1942
HP:0007018	Attention deficit hyperactivity disorder	6529	SLC6A1	ORPHA:1942
HP:0007018	Attention deficit hyperactivity disorder	6529	SLC6A1	OMIM:616421
HP:0007018	Attention deficit hyperactivity disorder	2776	GNAQ	ORPHA:3205
HP:0007018	Attention deficit hyperactivity disorder	55023	PHIP	ORPHA:589905
HP:0007018	Attention deficit hyperactivity disorder	55023	PHIP	OMIM:617991
HP:0007018	Attention deficit hyperactivity disorder	29123	ANKRD11	OMIM:148050
HP:0007018	Attention deficit hyperactivity disorder	80025	PANK2	ORPHA:216866
HP:0007018	Attention deficit hyperactivity disorder	5587	PRKD1	OMIM:617364
HP:0007018	Attention deficit hyperactivity disorder	27133	KCNH5	OMIM:620537
HP:0007018	Attention deficit hyperactivity disorder	221078	NSUN6	OMIM:620779
HP:0007018	Attention deficit hyperactivity disorder	2245	FGD1	ORPHA:915
HP:0007018	Attention deficit hyperactivity disorder	2245	FGD1	OMIM:305400
HP:0007018	Attention deficit hyperactivity disorder	1642	DDB1	OMIM:619426
HP:0007018	Attention deficit hyperactivity disorder	10664	CTCF	OMIM:615502
HP:0007018	Attention deficit hyperactivity disorder	63895	PIEZO2	ORPHA:2461
HP:0007018	Attention deficit hyperactivity disorder	196528	ARID2	OMIM:617808
HP:0007018	Attention deficit hyperactivity disorder	835	CASP2	OMIM:620653
HP:0007018	Attention deficit hyperactivity disorder	1801	DPH1	ORPHA:459061
HP:0007018	Attention deficit hyperactivity disorder	1802	DPH2	ORPHA:459061
HP:0007018	Attention deficit hyperactivity disorder	3720	JARID2	OMIM:620098
HP:0007018	Attention deficit hyperactivity disorder	435	ASL	ORPHA:23
HP:0007018	Attention deficit hyperactivity disorder	3479	IGF1	ORPHA:73272
HP:0007018	Attention deficit hyperactivity disorder	6492	SIM1	ORPHA:369873
HP:0007018	Attention deficit hyperactivity disorder	6909	TBX2	OMIM:618223
HP:0007018	Attention deficit hyperactivity disorder	23013	SPEN	OMIM:619312
HP:0007018	Attention deficit hyperactivity disorder	30000	TNPO2	OMIM:619556
HP:0007018	Attention deficit hyperactivity disorder	123606	NIPA1	ORPHA:261183
HP:0007018	Attention deficit hyperactivity disorder	7283	TUBG1	ORPHA:261183
HP:0007018	Attention deficit hyperactivity disorder	81614	NIPA2	ORPHA:261183
HP:0007018	Attention deficit hyperactivity disorder	54517	PUS7	OMIM:618342
HP:0007018	Attention deficit hyperactivity disorder	57102	FERRY3	OMIM:618221
HP:0007018	Attention deficit hyperactivity disorder	9759	HDAC4	ORPHA:1001
HP:0007018	Attention deficit hyperactivity disorder	79903	NAA60	OMIM:620786
HP:0007018	Attention deficit hyperactivity disorder	253738	EBF3	ORPHA:96148
HP:0007018	Attention deficit hyperactivity disorder	3067	HDC	OMIM:137580
HP:0007018	Attention deficit hyperactivity disorder	114798	SLITRK1	OMIM:137580
HP:0007018	Attention deficit hyperactivity disorder	6709	SPTAN1	OMIM:620540
HP:0007018	Attention deficit hyperactivity disorder	4076	CAPRIN1	OMIM:620782
HP:0007018	Attention deficit hyperactivity disorder	26115	TANC2	OMIM:618906
HP:0007018	Attention deficit hyperactivity disorder	100033413	SNORD116-1	OMIM:176270
HP:0007018	Attention deficit hyperactivity disorder	8924	HERC2	OMIM:176270
HP:0007018	Attention deficit hyperactivity disorder	23742	NPAP1	OMIM:176270
HP:0007018	Attention deficit hyperactivity disorder	338433	SNORD115-1	OMIM:176270
HP:0007018	Attention deficit hyperactivity disorder	54551	MAGEL2	OMIM:176270
HP:0007018	Attention deficit hyperactivity disorder	7681	MKRN3	OMIM:176270
HP:0007018	Attention deficit hyperactivity disorder	145624	PWAR1	OMIM:176270
HP:0007018	Attention deficit hyperactivity disorder	3653	IPW	OMIM:176270
HP:0007018	Attention deficit hyperactivity disorder	791114	PWRN1	OMIM:176270
HP:0007018	Attention deficit hyperactivity disorder	5009	OTC	ORPHA:664
HP:0007018	Attention deficit hyperactivity disorder	5575	PRKAR1B	OMIM:619680
HP:0007018	Attention deficit hyperactivity disorder	5621	PRNP	ORPHA:280397
HP:0007018	Attention deficit hyperactivity disorder	2581	GALC	ORPHA:206443
HP:0007018	Attention deficit hyperactivity disorder	3712	IVD	ORPHA:33
HP:0007018	Attention deficit hyperactivity disorder	57526	PCDH19	OMIM:300088
HP:0007018	Attention deficit hyperactivity disorder	5515	PPP2CA	OMIM:618354
HP:0007018	Attention deficit hyperactivity disorder	56521	DNAJC12	OMIM:617384
HP:0007018	Attention deficit hyperactivity disorder	55262	TRAPPC14	OMIM:618351
HP:0007018	Attention deficit hyperactivity disorder	23030	KDM4B	OMIM:619320
HP:0007018	Attention deficit hyperactivity disorder	473	RERE	OMIM:616975
HP:0007018	Attention deficit hyperactivity disorder	473	RERE	ORPHA:494344
HP:0007018	Attention deficit hyperactivity disorder	11151	CORO1A	OMIM:615401
HP:0007018	Attention deficit hyperactivity disorder	2782	GNB1	OMIM:616973
HP:0007018	Attention deficit hyperactivity disorder	23043	TNIK	OMIM:617028
HP:0007018	Attention deficit hyperactivity disorder	55784	MCTP2	ORPHA:1596
HP:0007018	Attention deficit hyperactivity disorder	23524	SRRM2	OMIM:620439
HP:0007018	Attention deficit hyperactivity disorder	5053	PAH	OMIM:261600
HP:0007018	Attention deficit hyperactivity disorder	5053	PAH	ORPHA:79254
HP:0007018	Attention deficit hyperactivity disorder	1815	DRD4	OMIM:143465
HP:0007018	Attention deficit hyperactivity disorder	1816	DRD5	OMIM:143465
HP:0007018	Attention deficit hyperactivity disorder	51114	ZDHHC9	ORPHA:776
HP:0007018	Attention deficit hyperactivity disorder	65109	UPF3B	ORPHA:776
HP:0007018	Attention deficit hyperactivity disorder	4952	OCRL	ORPHA:534
HP:0007018	Attention deficit hyperactivity disorder	4131	MAP1B	OMIM:618918
HP:0007018	Attention deficit hyperactivity disorder	84679	SLC9A7	OMIM:301024
HP:0007018	Attention deficit hyperactivity disorder	2592	GALT	ORPHA:79239
HP:0007018	Attention deficit hyperactivity disorder	1741	DLG3	OMIM:300850
HP:0007018	Attention deficit hyperactivity disorder	7846	TUBA1A	ORPHA:467166
HP:0007018	Attention deficit hyperactivity disorder	10381	TUBB3	ORPHA:467166
HP:0007018	Attention deficit hyperactivity disorder	6609	SMPD1	ORPHA:77293
HP:0007018	Attention deficit hyperactivity disorder	57551	TAOK1	OMIM:619575
HP:0007018	Attention deficit hyperactivity disorder	63035	BCORL1	OMIM:301029
HP:0007018	Attention deficit hyperactivity disorder	9969	MED13	OMIM:618009
HP:0007018	Attention deficit hyperactivity disorder	1312	COMT	ORPHA:567
HP:0007018	Attention deficit hyperactivity disorder	221037	JMJD1C	ORPHA:567
HP:0007018	Attention deficit hyperactivity disorder	2812	GP1BB	ORPHA:567
HP:0007018	Attention deficit hyperactivity disorder	6239	RREB1	ORPHA:567
HP:0007018	Attention deficit hyperactivity disorder	7290	HIRA	ORPHA:567
HP:0007018	Attention deficit hyperactivity disorder	9632	SEC24C	ORPHA:567
HP:0007018	Attention deficit hyperactivity disorder	7353	UFD1	ORPHA:567
HP:0007018	Attention deficit hyperactivity disorder	421	ARVCF	ORPHA:567
HP:0007018	Attention deficit hyperactivity disorder	5582	PRKCG	OMIM:605361
HP:0007018	Attention deficit hyperactivity disorder	51185	CRBN	OMIM:607417
HP:0007018	Attention deficit hyperactivity disorder	2898	GRIK2	OMIM:619580
HP:0007018	Attention deficit hyperactivity disorder	1137	CHRNA4	ORPHA:98784
HP:0007018	Attention deficit hyperactivity disorder	1135	CHRNA2	ORPHA:98784
HP:0007018	Attention deficit hyperactivity disorder	57010	CABP4	ORPHA:98784
HP:0007018	Attention deficit hyperactivity disorder	1141	CHRNB2	ORPHA:98784
HP:0007018	Attention deficit hyperactivity disorder	57582	KCNT1	ORPHA:98784
HP:0007018	Attention deficit hyperactivity disorder	1392	CRH	ORPHA:98784
HP:0007018	Attention deficit hyperactivity disorder	9681	DEPDC5	ORPHA:98784
HP:0007018	Attention deficit hyperactivity disorder	7703	PCGF2	OMIM:618371
HP:0007018	Attention deficit hyperactivity disorder	1781	DYNC1I2	OMIM:618492
HP:0007018	Attention deficit hyperactivity disorder	6907	TBL1X	OMIM:301033
HP:0007018	Attention deficit hyperactivity disorder	10524	KAT5	OMIM:619103
HP:0007018	Attention deficit hyperactivity disorder	79576	NKAP	OMIM:301039
HP:0007018	Attention deficit hyperactivity disorder	26040	SETBP1	OMIM:616078
HP:0007018	Attention deficit hyperactivity disorder	3188	HNRNPH2	OMIM:300986
HP:0007018	Attention deficit hyperactivity disorder	23152	CIC	OMIM:617600
HP:0007018	Attention deficit hyperactivity disorder	121278	TPH2	OMIM:613003
HP:0007018	Attention deficit hyperactivity disorder	51729	WBP11	OMIM:619227
HP:0007018	Attention deficit hyperactivity disorder	6638	SNRPN	ORPHA:177907
HP:0007018	Attention deficit hyperactivity disorder	1974	EIF4A2	OMIM:620455
HP:0007018	Attention deficit hyperactivity disorder	55186	SLC25A36	OMIM:620211
HP:0007018	Attention deficit hyperactivity disorder	2313	FLI1	ORPHA:2308
HP:0007018	Attention deficit hyperactivity disorder	64864	RFX7	OMIM:620330
HP:0007018	Attention deficit hyperactivity disorder	7074	TIAM1	OMIM:619908
HP:0007018	Attention deficit hyperactivity disorder	23476	BRD4	ORPHA:199
HP:0007018	Attention deficit hyperactivity disorder	9126	SMC3	ORPHA:199
HP:0007018	Attention deficit hyperactivity disorder	8243	SMC1A	ORPHA:199
HP:0007018	Attention deficit hyperactivity disorder	8243	SMC1A	ORPHA:220386
HP:0007018	Attention deficit hyperactivity disorder	6878	TAF6	ORPHA:199
HP:0007018	Attention deficit hyperactivity disorder	55869	HDAC8	ORPHA:199
HP:0007018	Attention deficit hyperactivity disorder	5885	RAD21	ORPHA:199
HP:0007018	Attention deficit hyperactivity disorder	9757	KMT2B	ORPHA:589618
HP:0007018	Attention deficit hyperactivity disorder	9757	KMT2B	OMIM:619934
HP:0007018	Attention deficit hyperactivity disorder	7874	USP7	ORPHA:500055
HP:0007018	Attention deficit hyperactivity disorder	139411	PTCHD1	OMIM:300830
HP:0007018	Attention deficit hyperactivity disorder	6711	SPTBN1	OMIM:619475
HP:0007018	Attention deficit hyperactivity disorder	7204	TRIO	OMIM:618825
HP:0007018	Attention deficit hyperactivity disorder	7204	TRIO	OMIM:617061
HP:0007018	Attention deficit hyperactivity disorder	7204	TRIO	ORPHA:476126
HP:0007018	Attention deficit hyperactivity disorder	23040	MYT1L	OMIM:616521
HP:0007018	Attention deficit hyperactivity disorder	23040	MYT1L	ORPHA:647799
HP:0007018	Attention deficit hyperactivity disorder	55526	DHTKD1	OMIM:204750
HP:0007018	Attention deficit hyperactivity disorder	4659	PPP1R12A	OMIM:618820
HP:0007018	Attention deficit hyperactivity disorder	3839	KPNA3	OMIM:620106
HP:0007018	Attention deficit hyperactivity disorder	4983	OPHN1	ORPHA:137831
HP:0007018	Attention deficit hyperactivity disorder	63932	STEEP1	OMIM:301013
HP:0007018	Attention deficit hyperactivity disorder	1457	CSNK2A1	OMIM:617062
HP:0007018	Attention deficit hyperactivity disorder	10681	GNB5	OMIM:617182
HP:0007018	Attention deficit hyperactivity disorder	6872	TAF1	OMIM:300966
HP:0007018	Attention deficit hyperactivity disorder	8567	MADD	OMIM:619005
HP:0007018	Attention deficit hyperactivity disorder	22871	NLGN1	OMIM:618830
HP:0007018	Attention deficit hyperactivity disorder	6472	SHMT2	OMIM:619121
HP:0007018	Attention deficit hyperactivity disorder	23112	TNRC6B	OMIM:619243
HP:0007018	Attention deficit hyperactivity disorder	81562	LMAN2L	OMIM:617863
HP:0007018	Attention deficit hyperactivity disorder	2890	GRIA1	OMIM:619927
HP:0007018	Attention deficit hyperactivity disorder	51473	DCDC2	ORPHA:84081
HP:0007018	Attention deficit hyperactivity disorder	91147	TMEM67	ORPHA:84081
HP:0007018	Attention deficit hyperactivity disorder	259266	ASPM	OMIM:608716
HP:0007018	Attention deficit hyperactivity disorder	2177	FANCD2	OMIM:227646
HP:0007018	Attention deficit hyperactivity disorder	4081	MAB21L1	ORPHA:495875
HP:0007018	Attention deficit hyperactivity disorder	1512	CTSH	ORPHA:2073
HP:0007018	Attention deficit hyperactivity disorder	5032	P2RY11	ORPHA:2073
HP:0007018	Attention deficit hyperactivity disorder	4340	MOG	ORPHA:2073
HP:0007018	Attention deficit hyperactivity disorder	3119	HLA-DQB1	ORPHA:2073
HP:0007018	Attention deficit hyperactivity disorder	3060	HCRT	ORPHA:2073
HP:0007018	Attention deficit hyperactivity disorder	22891	ZNF365	ORPHA:2073
HP:0007018	Attention deficit hyperactivity disorder	7292	TNFSF4	ORPHA:2073
HP:0007018	Attention deficit hyperactivity disorder	3123	HLA-DRB1	ORPHA:2073
HP:0007018	Attention deficit hyperactivity disorder	3739	KCNA4	OMIM:618284
HP:0007018	Attention deficit hyperactivity disorder	10020	GNE	OMIM:269921
HP:0007018	Attention deficit hyperactivity disorder	10020	GNE	ORPHA:3166
HP:0007018	Attention deficit hyperactivity disorder	4781	NFIB	OMIM:618286
HP:0007018	Attention deficit hyperactivity disorder	51780	KDM3B	OMIM:618846
HP:0007018	Attention deficit hyperactivity disorder	51317	PHF21A	OMIM:618725
HP:0007018	Attention deficit hyperactivity disorder	5116	PCNT	ORPHA:2637
HP:0007018	Attention deficit hyperactivity disorder	203190	LGI3	OMIM:620007
HP:0007018	Attention deficit hyperactivity disorder	4683	NBN	ORPHA:647
HP:0007018	Attention deficit hyperactivity disorder	10295	BCKDK	OMIM:614923
HP:0007018	Attention deficit hyperactivity disorder	4693	NDP	ORPHA:649
HP:0007018	Attention deficit hyperactivity disorder	10079	ATP9A	OMIM:620242
HP:0007018	Attention deficit hyperactivity disorder	9203	ZMYM3	OMIM:301111
HP:0007018	Attention deficit hyperactivity disorder	11011	TLK2	OMIM:618050
HP:0007018	Attention deficit hyperactivity disorder	1678	TIMM8A	ORPHA:52368
HP:0007018	Attention deficit hyperactivity disorder	129285	PPP1R21	OMIM:619383
HP:0007018	Attention deficit hyperactivity disorder	55553	SOX6	OMIM:618971
HP:0007018	Attention deficit hyperactivity disorder	27161	AGO2	OMIM:619149
HP:0007018	Attention deficit hyperactivity disorder	3832	KIF11	OMIM:152950
HP:0007018	Attention deficit hyperactivity disorder	7543	ZFX	OMIM:301118
HP:0007018	Attention deficit hyperactivity disorder	2261	FGFR3	OMIM:602849
HP:0007018	Attention deficit hyperactivity disorder	55367	PIDD1	OMIM:619827
HP:0007018	Attention deficit hyperactivity disorder	84148	KAT8	OMIM:618974
HP:0007018	Attention deficit hyperactivity disorder	9898	UBAP2L	OMIM:620494
HP:0007018	Attention deficit hyperactivity disorder	64682	ANAPC1	ORPHA:221008
HP:0003551	Difficulty climbing stairs	58	ACTA1	ORPHA:97240
HP:0003551	Difficulty climbing stairs	6445	SGCG	ORPHA:353
HP:0003551	Difficulty climbing stairs	274	BIN1	ORPHA:169186
HP:0003551	Difficulty climbing stairs	10290	SPEG	ORPHA:169186
HP:0003551	Difficulty climbing stairs	6261	RYR1	ORPHA:169186
HP:0003551	Difficulty climbing stairs	7273	TTN	ORPHA:169186
HP:0003551	Difficulty climbing stairs	7273	TTN	OMIM:608807
HP:0003551	Difficulty climbing stairs	7273	TTN	OMIM:611705
HP:0003551	Difficulty climbing stairs	291	SLC25A4	ORPHA:254892
HP:0003551	Difficulty climbing stairs	5428	POLG	ORPHA:254892
HP:0003551	Difficulty climbing stairs	5428	POLG	OMIM:258450
HP:0003551	Difficulty climbing stairs	5428	POLG	OMIM:607459
HP:0003551	Difficulty climbing stairs	56652	TWNK	ORPHA:254892
HP:0003551	Difficulty climbing stairs	56652	TWNK	OMIM:607459
HP:0003551	Difficulty climbing stairs	11232	POLG2	ORPHA:254892
HP:0003551	Difficulty climbing stairs	50484	RRM2B	ORPHA:254892
HP:0003551	Difficulty climbing stairs	50484	RRM2B	ORPHA:329336
HP:0003551	Difficulty climbing stairs	10585	POMT1	OMIM:609308
HP:0003551	Difficulty climbing stairs	10585	POMT1	ORPHA:86812
HP:0003551	Difficulty climbing stairs	29925	GMPPB	OMIM:615350
HP:0003551	Difficulty climbing stairs	29925	GMPPB	ORPHA:353327
HP:0003551	Difficulty climbing stairs	29925	GMPPB	ORPHA:363623
HP:0003551	Difficulty climbing stairs	55791	LRIF1	OMIM:619477
HP:0003551	Difficulty climbing stairs	1763	DNA2	OMIM:615156
HP:0003551	Difficulty climbing stairs	7415	VCP	ORPHA:435387
HP:0003551	Difficulty climbing stairs	7415	VCP	OMIM:167320
HP:0003551	Difficulty climbing stairs	246243	RNASEH1	ORPHA:329336
HP:0003551	Difficulty climbing stairs	2548	GAA	OMIM:232300
HP:0003551	Difficulty climbing stairs	8291	DYSF	OMIM:254130
HP:0003551	Difficulty climbing stairs	8291	DYSF	OMIM:253601
HP:0003551	Difficulty climbing stairs	8291	DYSF	ORPHA:268
HP:0003551	Difficulty climbing stairs	8291	DYSF	ORPHA:45448
HP:0003551	Difficulty climbing stairs	79912	PYROXD1	OMIM:617258
HP:0003551	Difficulty climbing stairs	1756	DMD	OMIM:310200
HP:0003551	Difficulty climbing stairs	1756	DMD	ORPHA:98895
HP:0003551	Difficulty climbing stairs	203547	VMA21	OMIM:310440
HP:0003551	Difficulty climbing stairs	3032	HADHB	ORPHA:746
HP:0003551	Difficulty climbing stairs	3030	HADHA	ORPHA:746
HP:0003551	Difficulty climbing stairs	7138	TNNT1	OMIM:620389
HP:0003551	Difficulty climbing stairs	7138	TNNT1	OMIM:620386
HP:0003551	Difficulty climbing stairs	6442	SGCA	ORPHA:62
HP:0003551	Difficulty climbing stairs	1605	DAG1	OMIM:613818
HP:0003551	Difficulty climbing stairs	1605	DAG1	ORPHA:280333
HP:0003551	Difficulty climbing stairs	10049	DNAJB6	OMIM:603511
HP:0003551	Difficulty climbing stairs	10049	DNAJB6	ORPHA:34516
HP:0003551	Difficulty climbing stairs	9499	MYOT	ORPHA:266
HP:0003551	Difficulty climbing stairs	4000	LMNA	OMIM:181350
HP:0003551	Difficulty climbing stairs	5339	PLEC	ORPHA:254361
HP:0003551	Difficulty climbing stairs	5339	PLEC	OMIM:613723
HP:0003551	Difficulty climbing stairs	825	CAPN3	ORPHA:267
HP:0003551	Difficulty climbing stairs	84197	POMK	OMIM:616094
HP:0003551	Difficulty climbing stairs	10073	SNUPN	OMIM:620793
HP:0003551	Difficulty climbing stairs	6263	RYR3	OMIM:620310
HP:0003551	Difficulty climbing stairs	79147	FKRP	OMIM:607155
HP:0003551	Difficulty climbing stairs	79147	FKRP	OMIM:606612
HP:0003551	Difficulty climbing stairs	79147	FKRP	ORPHA:34515
HP:0003551	Difficulty climbing stairs	2673	GFPT1	ORPHA:353327
HP:0003551	Difficulty climbing stairs	1798	DPAGT1	ORPHA:353327
HP:0003551	Difficulty climbing stairs	85365	ALG2	ORPHA:353327
HP:0003551	Difficulty climbing stairs	199857	ALG14	ORPHA:353327
HP:0003551	Difficulty climbing stairs	284403	WDR62	OMIM:604317
HP:0003551	Difficulty climbing stairs	6444	SGCD	OMIM:601287
HP:0003551	Difficulty climbing stairs	26092	TOR1AIP1	OMIM:617072
HP:0003551	Difficulty climbing stairs	10342	TFG	ORPHA:431329
HP:0003551	Difficulty climbing stairs	2318	FLNC	ORPHA:171445
HP:0003551	Difficulty climbing stairs	2318	FLNC	OMIM:609524
HP:0003551	Difficulty climbing stairs	84665	MYPN	ORPHA:171881
HP:0003551	Difficulty climbing stairs	7169	TPM2	ORPHA:171881
HP:0003551	Difficulty climbing stairs	7170	TPM3	ORPHA:171881
HP:0003551	Difficulty climbing stairs	6709	SPTAN1	OMIM:620528
HP:0003551	Difficulty climbing stairs	55624	POMGNT1	OMIM:613157
HP:0003551	Difficulty climbing stairs	84466	MEGF10	OMIM:620249
HP:0003551	Difficulty climbing stairs	122622	ADSS1	ORPHA:482601
HP:0003551	Difficulty climbing stairs	4625	MYH7	OMIM:608358
HP:0003551	Difficulty climbing stairs	203859	ANO5	OMIM:613319
HP:0003551	Difficulty climbing stairs	4556	MT-TE	ORPHA:2596
HP:0003551	Difficulty climbing stairs	29954	POMT2	ORPHA:206559
HP:0003551	Difficulty climbing stairs	9217	VAPB	ORPHA:209335
HP:0003551	Difficulty climbing stairs	8557	TCAP	OMIM:601954
HP:0003551	Difficulty climbing stairs	3991	LIPE	OMIM:615980
HP:0003551	Difficulty climbing stairs	1291	COL6A1	OMIM:158810
HP:0003551	Difficulty climbing stairs	125170	MIEF2	OMIM:619024
HP:0003551	Difficulty climbing stairs	390594	KBTBD13	OMIM:609273
HP:0003551	Difficulty climbing stairs	57449	PLEKHG5	OMIM:611067
HP:0003551	Difficulty climbing stairs	3908	LAMA2	OMIM:618138
HP:0003551	Difficulty climbing stairs	23534	TNPO3	OMIM:608423
HP:0003551	Difficulty climbing stairs	29967	LRP12	OMIM:620452
HP:0003551	Difficulty climbing stairs	5255	PHKA1	ORPHA:715
HP:0003551	Difficulty climbing stairs	5260	PHKG1	ORPHA:715
HP:0003551	Difficulty climbing stairs	9927	MFN2	ORPHA:99947
HP:0033150	Anorectal abscess	6730	SRP68	OMIM:620534
HP:0033151	Abnormal pharynx morphology	2697	GJA1	OMIM:218400
HP:0033151	Abnormal pharynx morphology	6469	SHH	OMIM:147250
HP:0033151	Abnormal pharynx morphology	4281	MID1	OMIM:300000
HP:0033151	Abnormal pharynx morphology	26040	SETBP1	OMIM:269150
HP:0033151	Abnormal pharynx morphology	57167	SALL4	OMIM:607323
HP:0033151	Abnormal pharynx morphology	8626	TP63	OMIM:604292
HP:0033151	Abnormal pharynx morphology	100	ADA	ORPHA:277
HP:0033151	Abnormal pharynx morphology	83483	PLVAP	OMIM:618183
HP:0033151	Abnormal pharynx morphology	6448	SGSH	OMIM:252900
HP:0033151	Abnormal pharynx morphology	23394	ADNP	ORPHA:404448
HP:0033151	Abnormal pharynx morphology	4791	NFKB2	ORPHA:293978
HP:0033151	Abnormal pharynx morphology	1493	CTLA4	ORPHA:436159
HP:0033151	Abnormal pharynx morphology	1493	CTLA4	OMIM:616100
HP:0033151	Abnormal pharynx morphology	4860	PNP	OMIM:613179
HP:0033151	Abnormal pharynx morphology	3932	LCK	OMIM:615758
HP:0033151	Abnormal pharynx morphology	84320	ACBD6	OMIM:620785
HP:0033151	Abnormal pharynx morphology	9094	UNC119	OMIM:615518
HP:0033151	Abnormal pharynx morphology	411	ARSB	OMIM:253200
HP:0033151	Abnormal pharynx morphology	114803	MYSM1	ORPHA:508542
HP:0033151	Abnormal pharynx morphology	3718	JAK3	OMIM:600802
HP:0033151	Abnormal pharynx morphology	6809	STX3	OMIM:619446
HP:0033151	Abnormal pharynx morphology	11151	CORO1A	OMIM:615401
HP:0033151	Abnormal pharynx morphology	6813	STXBP2	OMIM:613101
HP:0033151	Abnormal pharynx morphology	57465	TBC1D24	ORPHA:352596
HP:0033151	Abnormal pharynx morphology	5424	POLD1	OMIM:620836
HP:0033151	Abnormal pharynx morphology	10525	HYOU1	OMIM:233600
HP:0033151	Abnormal pharynx morphology	2314	FLII	ORPHA:819
HP:0033151	Abnormal pharynx morphology	23096	IQSEC2	ORPHA:819
HP:0033151	Abnormal pharynx morphology	10743	RAI1	ORPHA:819
HP:0033151	Abnormal pharynx morphology	10522	DEAF1	ORPHA:819
HP:0033151	Abnormal pharynx morphology	3952	LEP	ORPHA:66628
HP:0033151	Abnormal pharynx morphology	3952	LEP	OMIM:614962
HP:0033151	Abnormal pharynx morphology	6662	SOX9	OMIM:114290
HP:0033151	Abnormal pharynx morphology	427	ASAH1	ORPHA:333
HP:0033151	Abnormal pharynx morphology	25839	COG4	ORPHA:263501
HP:0033151	Abnormal pharynx morphology	4784	NFIX	OMIM:602535
HP:0033151	Abnormal pharynx morphology	6597	SMARCA4	ORPHA:1465
HP:0033151	Abnormal pharynx morphology	6598	SMARCB1	ORPHA:1465
HP:0033151	Abnormal pharynx morphology	6659	SOX4	ORPHA:1465
HP:0033151	Abnormal pharynx morphology	8289	ARID1A	ORPHA:1465
HP:0033151	Abnormal pharynx morphology	5977	DPF2	ORPHA:1465
HP:0033151	Abnormal pharynx morphology	6601	SMARCC2	ORPHA:1465
HP:0033151	Abnormal pharynx morphology	6602	SMARCD1	ORPHA:1465
HP:0033151	Abnormal pharynx morphology	57492	ARID1B	ORPHA:1465
HP:0033151	Abnormal pharynx morphology	196528	ARID2	ORPHA:1465
HP:0033151	Abnormal pharynx morphology	6605	SMARCE1	ORPHA:1465
HP:0033151	Abnormal pharynx morphology	6664	SOX11	ORPHA:1465
HP:0033151	Abnormal pharynx morphology	3423	IDS	ORPHA:217085
HP:0033151	Abnormal pharynx morphology	3423	IDS	ORPHA:217093
HP:0033151	Abnormal pharynx morphology	92579	G6PC3	OMIM:612541
HP:0033151	Abnormal pharynx morphology	5631	PRPS1	ORPHA:1187
HP:0033151	Abnormal pharynx morphology	5631	PRPS1	OMIM:301835
HP:0033151	Abnormal pharynx morphology	5426	POLE	OMIM:615139
HP:0033151	Abnormal pharynx morphology	3953	LEPR	OMIM:614963
HP:0033151	Abnormal pharynx morphology	3953	LEPR	ORPHA:179494
HP:0033151	Abnormal pharynx morphology	8456	FOXN1	OMIM:618806
HP:0033151	Abnormal pharynx morphology	79087	ALG12	OMIM:607143
HP:0033151	Abnormal pharynx morphology	146206	CARMIL2	OMIM:618131
HP:0033151	Abnormal pharynx morphology	2720	GLB1	OMIM:253010
HP:0033151	Abnormal pharynx morphology	3055	HCK	OMIM:620296
HP:0033151	Abnormal pharynx morphology	7840	ALMS1	ORPHA:64
HP:0033151	Abnormal pharynx morphology	6772	STAT1	ORPHA:391487
HP:0033151	Abnormal pharynx morphology	7454	WAS	OMIM:301000
HP:0033151	Abnormal pharynx morphology	3572	IL6ST	OMIM:619752
HP:0033151	Abnormal pharynx morphology	3852	KRT5	OMIM:619599
HP:0033151	Abnormal pharynx morphology	2033	EP300	OMIM:180849
HP:0033151	Abnormal pharynx morphology	2033	EP300	OMIM:618333
HP:0033151	Abnormal pharynx morphology	1387	CREBBP	OMIM:180849
HP:0033151	Abnormal pharynx morphology	1387	CREBBP	ORPHA:592574
HP:0033151	Abnormal pharynx morphology	1387	CREBBP	OMIM:618332
HP:0033151	Abnormal pharynx morphology	4261	CIITA	OMIM:209920
HP:0033151	Abnormal pharynx morphology	2588	GALNS	OMIM:253000
HP:0033151	Abnormal pharynx morphology	6774	STAT3	OMIM:615952
HP:0033151	Abnormal pharynx morphology	6774	STAT3	OMIM:147060
HP:0033151	Abnormal pharynx morphology	5295	PIK3R1	OMIM:616005
HP:0033151	Abnormal pharynx morphology	57282	SLC4A10	OMIM:620746
HP:0033151	Abnormal pharynx morphology	9841	ZBTB24	OMIM:614069
HP:0033151	Abnormal pharynx morphology	5580	PRKCD	OMIM:615559
HP:0033151	Abnormal pharynx morphology	920	CD4	OMIM:619238
HP:0033151	Abnormal pharynx morphology	3570	IL6R	OMIM:618944
HP:0033151	Abnormal pharynx morphology	54440	SASH3	OMIM:301082
HP:0033151	Abnormal pharynx morphology	6789	STK4	OMIM:614868
HP:0033151	Abnormal pharynx morphology	6050	RNH1	OMIM:620461
HP:0033151	Abnormal pharynx morphology	3575	IL7R	ORPHA:169154
HP:0033151	Abnormal pharynx morphology	51360	MBTPS2	OMIM:308205
HP:0033151	Abnormal pharynx morphology	27086	FOXP1	ORPHA:391372
HP:0033151	Abnormal pharynx morphology	8481	OFD1	OMIM:300209
HP:0033151	Abnormal pharynx morphology	5971	RELB	OMIM:617585
HP:0033151	Abnormal pharynx morphology	79803	HPS6	OMIM:614075
HP:0033151	Abnormal pharynx morphology	641	BLM	OMIM:210900
HP:0033151	Abnormal pharynx morphology	5340	PLG	OMIM:217090
HP:0033151	Abnormal pharynx morphology	51341	ZBTB7A	OMIM:619769
HP:0033151	Abnormal pharynx morphology	2799	GNS	OMIM:252940
HP:0033151	Abnormal pharynx morphology	8242	KDM5C	OMIM:300534
HP:0033151	Abnormal pharynx morphology	23247	KATNIP	OMIM:616784
HP:0033151	Abnormal pharynx morphology	2990	GUSB	OMIM:253220
HP:0033151	Abnormal pharynx morphology	138050	HGSNAT	OMIM:252930
HP:0033151	Abnormal pharynx morphology	3514	IGKC	ORPHA:183675
HP:0033151	Abnormal pharynx morphology	3501	IGHG2	ORPHA:183675
HP:0033151	Abnormal pharynx morphology	64421	DCLRE1C	OMIM:602450
HP:0033151	Abnormal pharynx morphology	79158	GNPTAB	ORPHA:423461
HP:0033151	Abnormal pharynx morphology	2542	SLC37A4	OMIM:232240
HP:0033151	Abnormal pharynx morphology	55023	PHIP	ORPHA:589905
HP:0033151	Abnormal pharynx morphology	8625	RFXANK	OMIM:620815
HP:0033151	Abnormal pharynx morphology	2302	FOXJ1	OMIM:618699
HP:0033151	Abnormal pharynx morphology	7388	UQCRH	OMIM:620137
HP:0033151	Abnormal pharynx morphology	9138	ARHGEF1	OMIM:618459
HP:0033151	Abnormal pharynx morphology	5696	PSMB8	OMIM:256040
HP:0033151	Abnormal pharynx morphology	4669	NAGLU	OMIM:252920
HP:0033151	Abnormal pharynx morphology	54808	DYM	ORPHA:239
HP:0033151	Abnormal pharynx morphology	6949	TCOF1	OMIM:154500
HP:0033151	Abnormal pharynx morphology	374407	DNAJB13	OMIM:617091
HP:0033151	Abnormal pharynx morphology	139212	DNAAF6	OMIM:300991
HP:0033151	Abnormal pharynx morphology	30011	SH3KBP1	OMIM:300310
HP:0033151	Abnormal pharynx morphology	695	BTK	OMIM:300755
HP:0033151	Abnormal pharynx morphology	930	CD19	OMIM:613493
HP:0033151	Abnormal pharynx morphology	930	CD19	OMIM:240500
HP:0033151	Abnormal pharynx morphology	152110	NEK10	OMIM:618781
HP:0033151	Abnormal pharynx morphology	115650	TNFRSF13C	OMIM:613494
HP:0033151	Abnormal pharynx morphology	115650	TNFRSF13C	OMIM:240500
HP:0033151	Abnormal pharynx morphology	23308	ICOSLG	OMIM:620825
HP:0033151	Abnormal pharynx morphology	27148	STK36	OMIM:619436
HP:0033151	Abnormal pharynx morphology	5880	RAC2	OMIM:618986
HP:0033151	Abnormal pharynx morphology	64446	DNAI2	OMIM:612444
HP:0033151	Abnormal pharynx morphology	987	LRBA	OMIM:614700
HP:0033151	Abnormal pharynx morphology	3426	CFI	OMIM:610984
HP:0033151	Abnormal pharynx morphology	345895	RSPH4A	OMIM:612649
HP:0033151	Abnormal pharynx morphology	54499	TMCO1	OMIM:213980
HP:0033151	Abnormal pharynx morphology	79650	USB1	OMIM:604173
HP:0033151	Abnormal pharynx morphology	5293	PIK3CD	OMIM:619281
HP:0033151	Abnormal pharynx morphology	3507	IGHM	OMIM:601495
HP:0033151	Abnormal pharynx morphology	54768	HYDIN	OMIM:608647
HP:0033151	Abnormal pharynx morphology	89765	RSPH1	OMIM:615481
HP:0033151	Abnormal pharynx morphology	161582	DNAAF4	OMIM:615482
HP:0033151	Abnormal pharynx morphology	1289	COL5A1	OMIM:130000
HP:0033151	Abnormal pharynx morphology	4256	MGP	ORPHA:85202
HP:0033151	Abnormal pharynx morphology	51816	ADA2	OMIM:615688
HP:0033151	Abnormal pharynx morphology	54919	DNAAF5	OMIM:614874
HP:0033151	Abnormal pharynx morphology	54014	BRWD1	OMIM:620438
HP:0033151	Abnormal pharynx morphology	4790	NFKB1	OMIM:616576
HP:0033151	Abnormal pharynx morphology	51364	ZMYND10	OMIM:615444
HP:0033151	Abnormal pharynx morphology	50615	IL21R	OMIM:615207
HP:0033151	Abnormal pharynx morphology	29927	SEC61A1	OMIM:620674
HP:0033151	Abnormal pharynx morphology	29927	SEC61A1	OMIM:620670
HP:0033151	Abnormal pharynx morphology	1767	DNAH5	OMIM:608644
HP:0033151	Abnormal pharynx morphology	85452	CFAP74	OMIM:620197
HP:0033151	Abnormal pharynx morphology	8382	NME5	OMIM:620032
HP:0033151	Abnormal pharynx morphology	29851	ICOS	OMIM:607594
HP:0033151	Abnormal pharynx morphology	29851	ICOS	OMIM:240500
HP:0033151	Abnormal pharynx morphology	3604	TNFRSF9	OMIM:620282
HP:0033151	Abnormal pharynx morphology	84905	ZNF341	OMIM:618282
HP:0033151	Abnormal pharynx morphology	54	ACP5	OMIM:607944
HP:0033151	Abnormal pharynx morphology	23495	TNFRSF13B	OMIM:240500
HP:0033151	Abnormal pharynx morphology	1380	CR2	OMIM:240500
HP:0033151	Abnormal pharynx morphology	84061	MAGT1	OMIM:300853
HP:0033151	Abnormal pharynx morphology	123872	DNAAF1	OMIM:613193
HP:0033151	Abnormal pharynx morphology	1290	COL5A2	OMIM:130010
HP:0033151	Abnormal pharynx morphology	55130	ODAD2	OMIM:615451
HP:0033151	Abnormal pharynx morphology	10625	IVNS1ABP	OMIM:618969
HP:0033151	Abnormal pharynx morphology	4194	MDM4	OMIM:618849
HP:0033151	Abnormal pharynx morphology	3551	IKBKB	OMIM:618204
HP:0033151	Abnormal pharynx morphology	23765	IL17RA	OMIM:613953
HP:0033151	Abnormal pharynx morphology	246176	GAS2L2	OMIM:618449
HP:0033151	Abnormal pharynx morphology	29110	TBK1	OMIM:620880
HP:0033151	Abnormal pharynx morphology	6899	TBX1	OMIM:188400
HP:0033151	Abnormal pharynx morphology	81704	DOCK8	OMIM:243700
HP:0033151	Abnormal pharynx morphology	81704	DOCK8	ORPHA:217390
HP:0033151	Abnormal pharynx morphology	345643	MCIDAS	OMIM:618695
HP:0033151	Abnormal pharynx morphology	93233	ODAD1	OMIM:615067
HP:0033151	Abnormal pharynx morphology	56683	CFAP298	OMIM:615500
HP:0033151	Abnormal pharynx morphology	721	C4B	OMIM:614379
HP:0033151	Abnormal pharynx morphology	359948	IRF2BP2	OMIM:617765
HP:0033151	Abnormal pharynx morphology	4689	NCF4	OMIM:613960
HP:0033151	Abnormal pharynx morphology	6688	SPI1	OMIM:619707
HP:0033151	Abnormal pharynx morphology	85478	CCDC65	OMIM:615504
HP:0033151	Abnormal pharynx morphology	6674	SPAG1	OMIM:615505
HP:0033151	Abnormal pharynx morphology	51314	NME8	OMIM:610852
HP:0033151	Abnormal pharynx morphology	2214	FCGR3A	OMIM:615707
HP:0033151	Abnormal pharynx morphology	8517	IKBKG	ORPHA:98813
HP:0033151	Abnormal pharynx morphology	4792	NFKBIA	ORPHA:98813
HP:0033151	Abnormal pharynx morphology	165918	RNF168	ORPHA:420741
HP:0033151	Abnormal pharynx morphology	23639	DNAAF11	OMIM:614935
HP:0033151	Abnormal pharynx morphology	55172	DNAAF2	OMIM:612518
HP:0033151	Abnormal pharynx morphology	7512	XPNPEP2	ORPHA:100057
HP:0033151	Abnormal pharynx morphology	710	SERPING1	ORPHA:100050
HP:0033151	Abnormal pharynx morphology	710	SERPING1	OMIM:106100
HP:0033151	Abnormal pharynx morphology	2161	F12	OMIM:610618
HP:0033151	Abnormal pharynx morphology	6794	STK11	ORPHA:2869
HP:0033151	Abnormal pharynx morphology	10312	TCIRG1	ORPHA:486
HP:0033151	Abnormal pharynx morphology	6728	SRP19	ORPHA:486
HP:0033151	Abnormal pharynx morphology	1991	ELANE	ORPHA:486
HP:0033151	Abnormal pharynx morphology	1991	ELANE	ORPHA:2686
HP:0033151	Abnormal pharynx morphology	2672	GFI1	ORPHA:486
HP:0033151	Abnormal pharynx morphology	81570	CLPB	ORPHA:486
HP:0033151	Abnormal pharynx morphology	3115	HLA-DPB1	ORPHA:133
HP:0033151	Abnormal pharynx morphology	7852	CXCR4	ORPHA:51636
HP:0033151	Abnormal pharynx morphology	64135	IFIH1	OMIM:619773
HP:0033151	Abnormal pharynx morphology	89970	RSPRY1	ORPHA:457395
HP:0033151	Abnormal pharynx morphology	7157	TP53	OMIM:607107
HP:0033151	Abnormal pharynx morphology	4486	MST1R	OMIM:617075
HP:0033151	Abnormal pharynx morphology	5573	PRKAR1A	ORPHA:1359
HP:0033151	Abnormal pharynx morphology	50940	PDE11A	ORPHA:1359
HP:0033151	Abnormal pharynx morphology	26191	PTPN22	ORPHA:397
HP:0033151	Abnormal pharynx morphology	3106	HLA-B	ORPHA:397
HP:0033151	Abnormal pharynx morphology	3123	HLA-DRB1	ORPHA:397
HP:0033151	Abnormal pharynx morphology	8974	P4HA2	ORPHA:397
HP:0033151	Abnormal pharynx morphology	55315	SLC29A3	ORPHA:168569
HP:0033151	Abnormal pharynx morphology	7132	TNFRSF1A	ORPHA:32960
HP:0033151	Abnormal pharynx morphology	4068	SH2D1A	OMIM:308240
HP:0033151	Abnormal pharynx morphology	331	XIAP	OMIM:308240
HP:0033151	Abnormal pharynx morphology	2737	GLI3	ORPHA:672
HP:0033151	Abnormal pharynx morphology	5896	RAG1	ORPHA:331206
HP:0033151	Abnormal pharynx morphology	5897	RAG2	ORPHA:331206
HP:0033151	Abnormal pharynx morphology	4247	MGAT2	ORPHA:79329
HP:0033151	Abnormal pharynx morphology	8239	USP9X	ORPHA:480880
HP:0033151	Abnormal pharynx morphology	57379	AICDA	OMIM:605258
HP:0033151	Abnormal pharynx morphology	7374	UNG	OMIM:608106
HP:0033151	Abnormal pharynx morphology	6340	SCNN1G	ORPHA:171876
HP:0033151	Abnormal pharynx morphology	6337	SCNN1A	ORPHA:171876
HP:0033151	Abnormal pharynx morphology	6338	SCNN1B	ORPHA:171876
HP:0033151	Abnormal pharynx morphology	29969	MDFIC	OMIM:620014
HP:0033151	Abnormal pharynx morphology	7535	ZAP70	ORPHA:911
HP:0033151	Abnormal pharynx morphology	5728	PTEN	ORPHA:397596
HP:0033151	Abnormal pharynx morphology	5354	PLP1	ORPHA:280210
HP:0033151	Abnormal pharynx morphology	9782	MATR3	ORPHA:600
HP:0033151	Abnormal pharynx morphology	353116	RILPL1	ORPHA:98897
HP:0033151	Abnormal pharynx morphology	10755	GIPC1	ORPHA:98897
HP:0033151	Abnormal pharynx morphology	29967	LRP12	ORPHA:98897
HP:0033151	Abnormal pharynx morphology	100996717	NOTCH2NLC	ORPHA:98897
HP:0033152	Abnormal pharynx physiology	91662	NLRP12	OMIM:611762
HP:0033152	Abnormal pharynx physiology	1380	CR2	OMIM:614699
HP:0033154	Elevated circulating deoxypyridinoline concentration	5176	SERPINF1	OMIM:613982
HP:0033155	Elevated circulating L-alloisoleucine concentration	593	BCKDHA	OMIM:248600
HP:0012321	D-2-hydroxyglutaric aciduria	728294	D2HGDH	OMIM:600721
HP:0012321	D-2-hydroxyglutaric aciduria	3418	IDH2	OMIM:613657
HP:0012321	D-2-hydroxyglutaric aciduria	3417	IDH1	ORPHA:99646
HP:0012322	Perifolliculitis	55851	PSENEN	OMIM:613736
HP:0012322	Perifolliculitis	5663	PSEN1	OMIM:613737
HP:0012324	Myeloid leukemia	219285	SAMD9L	OMIM:159550
HP:0012324	Myeloid leukemia	219285	SAMD9L	ORPHA:2585
HP:0012324	Myeloid leukemia	3417	IDH1	ORPHA:99646
HP:0012324	Myeloid leukemia	867	CBL	OMIM:613563
HP:0012324	Myeloid leukemia	867	CBL	ORPHA:648
HP:0012324	Myeloid leukemia	867	CBL	OMIM:607785
HP:0012324	Myeloid leukemia	4893	NRAS	OMIM:613224
HP:0012324	Myeloid leukemia	4893	NRAS	ORPHA:648
HP:0012324	Myeloid leukemia	22800	RRAS2	ORPHA:648
HP:0012324	Myeloid leukemia	8216	LZTR1	ORPHA:648
HP:0012324	Myeloid leukemia	6016	RIT1	ORPHA:648
HP:0012324	Myeloid leukemia	6237	RRAS	ORPHA:648
HP:0012324	Myeloid leukemia	5894	RAF1	ORPHA:648
HP:0012324	Myeloid leukemia	22808	MRAS	ORPHA:648
HP:0012324	Myeloid leukemia	3845	KRAS	ORPHA:648
HP:0012324	Myeloid leukemia	3845	KRAS	OMIM:609942
HP:0012324	Myeloid leukemia	200734	SPRED2	ORPHA:648
HP:0012324	Myeloid leukemia	6654	SOS1	ORPHA:648
HP:0012324	Myeloid leukemia	6655	SOS2	ORPHA:648
HP:0012324	Myeloid leukemia	5781	PTPN11	ORPHA:648
HP:0012324	Myeloid leukemia	5781	PTPN11	OMIM:607785
HP:0012324	Myeloid leukemia	5781	PTPN11	OMIM:163950
HP:0012324	Myeloid leukemia	5922	RASA2	ORPHA:648
HP:0012324	Myeloid leukemia	4763	NF1	OMIM:607785
HP:0012324	Myeloid leukemia	23092	ARHGAP26	OMIM:607785
HP:0012324	Myeloid leukemia	673	BRAF	OMIM:163950
HP:0012324	Myeloid leukemia	5604	MAP2K1	OMIM:163950
HP:0012324	Myeloid leukemia	2165	F13B	ORPHA:331
HP:0012324	Myeloid leukemia	2162	F13A1	ORPHA:331
HP:0012324	Myeloid leukemia	7015	TERT	OMIM:614742
HP:0012324	Myeloid leukemia	171023	ASXL1	ORPHA:98849
HP:0012324	Myeloid leukemia	54790	TET2	ORPHA:98849
HP:0012324	Myeloid leukemia	3815	KIT	ORPHA:98849
HP:0012324	Myeloid leukemia	6427	SRSF2	ORPHA:98849
HP:0012324	Myeloid leukemia	7012	TERC	OMIM:614743
HP:0012324	Myeloid leukemia	2624	GATA2	OMIM:614172
HP:0012324	Myeloid leukemia	1788	DNMT3A	ORPHA:404443
HP:0012324	Myeloid leukemia	26040	SETBP1	ORPHA:798
HP:0012325	Chronic myelomonocytic leukemia	171023	ASXL1	ORPHA:98849
HP:0012325	Chronic myelomonocytic leukemia	54790	TET2	ORPHA:98849
HP:0012325	Chronic myelomonocytic leukemia	3815	KIT	ORPHA:98849
HP:0012325	Chronic myelomonocytic leukemia	6427	SRSF2	ORPHA:98849
HP:0012326	Abnormal celiac artery morphology	1289	COL5A1	OMIM:619329
HP:0033158	Reduced respiratory ciliary beating frequency	374407	DNAJB13	OMIM:617091
HP:0033158	Reduced respiratory ciliary beating frequency	1770	DNAH9	OMIM:618300
HP:0007020	Progressive spastic paraplegia	25782	RAB3GAP2	ORPHA:401830
HP:0007020	Progressive spastic paraplegia	85465	SELENOI	ORPHA:506353
HP:0007020	Progressive spastic paraplegia	10717	AP4B1	ORPHA:280763
HP:0007020	Progressive spastic paraplegia	9179	AP4M1	ORPHA:280763
HP:0007020	Progressive spastic paraplegia	11154	AP4S1	ORPHA:280763
HP:0007020	Progressive spastic paraplegia	23431	AP4E1	ORPHA:280763
HP:0007020	Progressive spastic paraplegia	547	KIF1A	ORPHA:101010
HP:0007020	Progressive spastic paraplegia	23769	FLRT1	ORPHA:320406
HP:0007020	Progressive spastic paraplegia	64837	KLC2	ORPHA:320406
HP:0007020	Progressive spastic paraplegia	9897	WASHC5	ORPHA:100989
HP:0007020	Progressive spastic paraplegia	8242	KDM5C	OMIM:300534
HP:0007020	Progressive spastic paraplegia	340075	ARSI	ORPHA:401815
HP:0007020	Progressive spastic paraplegia	9197	SLC33A1	ORPHA:171863
HP:0007020	Progressive spastic paraplegia	4141	MARS1	ORPHA:401835
HP:0007020	Progressive spastic paraplegia	339855	KY	ORPHA:496689
HP:0007020	Progressive spastic paraplegia	57498	KIDINS220	ORPHA:521390
HP:0007020	Progressive spastic paraplegia	10908	PNPLA6	OMIM:612020
HP:0007020	Progressive spastic paraplegia	27247	NFU1	OMIM:620938
HP:0007020	Progressive spastic paraplegia	22948	CCT5	ORPHA:139578
HP:0007020	Progressive spastic paraplegia	4508	MT-ATP6	ORPHA:320360
HP:0007020	Progressive spastic paraplegia	51663	ZFR	ORPHA:401840
HP:0007020	Progressive spastic paraplegia	6253	RTN2	ORPHA:100993
HP:0007020	Progressive spastic paraplegia	51271	UBAP1	ORPHA:100993
HP:0007020	Progressive spastic paraplegia	126129	CPT1C	ORPHA:444099
HP:0007020	Progressive spastic paraplegia	200205	IBA57	ORPHA:468661
HP:0007020	Progressive spastic paraplegia	57531	HACE1	ORPHA:464282
HP:0007020	Progressive spastic paraplegia	23400	ATP13A2	ORPHA:513436
HP:0007020	Progressive spastic paraplegia	5354	PLP1	ORPHA:280234
HP:0007020	Progressive spastic paraplegia	80055	PGAP1	ORPHA:401820
HP:0007020	Progressive spastic paraplegia	3839	KPNA3	ORPHA:171612
HP:0007020	Progressive spastic paraplegia	79152	FA2H	ORPHA:329308
HP:0007020	Progressive spastic paraplegia	9907	AP5Z1	ORPHA:306511
HP:0007020	Progressive spastic paraplegia	10667	FARS2	ORPHA:466722
HP:0007021	Pain insensitivity	9759	HDAC4	OMIM:600430
HP:0007021	Pain insensitivity	253738	EBF3	OMIM:617330
HP:0007021	Pain insensitivity	55768	NGLY1	OMIM:615273
HP:0007021	Pain insensitivity	8242	KDM5C	OMIM:300534
HP:0007021	Pain insensitivity	2892	GRIA3	ORPHA:364028
HP:0007021	Pain insensitivity	10743	RAI1	OMIM:182290
HP:0007021	Pain insensitivity	8218	CLTCL1	ORPHA:453510
HP:0007021	Pain insensitivity	55699	IARS2	OMIM:616007
HP:0007021	Pain insensitivity	85446	ZFHX2	OMIM:147430
HP:0007021	Pain insensitivity	7204	TRIO	OMIM:618825
HP:0007021	Pain insensitivity	7204	TRIO	OMIM:617061
HP:0007021	Pain insensitivity	4803	NGF	ORPHA:64752
HP:0007021	Pain insensitivity	4803	NGF	OMIM:608654
HP:0007021	Pain insensitivity	4914	NTRK1	ORPHA:64752
HP:0007021	Pain insensitivity	4914	NTRK1	ORPHA:642
HP:0007021	Pain insensitivity	4914	NTRK1	OMIM:256800
HP:0007021	Pain insensitivity	59335	PRDM12	OMIM:616488
HP:0007021	Pain insensitivity	10059	DNM1L	OMIM:614388
HP:0007021	Pain insensitivity	4358	MPV17	OMIM:256810
HP:0007021	Pain insensitivity	781	CACNA2D1	OMIM:620149
HP:0007021	Pain insensitivity	80036	TRPM3	OMIM:620224
HP:0007021	Pain insensitivity	55775	TDP1	ORPHA:94124
HP:0007021	Pain insensitivity	4204	MECP2	OMIM:300260
HP:0007021	Pain insensitivity	80821	DDHD1	ORPHA:101008
HP:0007021	Pain insensitivity	6335	SCN9A	OMIM:243000
HP:0007021	Pain insensitivity	219854	TMEM218	OMIM:619562
HP:0007021	Pain insensitivity	11280	SCN11A	OMIM:615548
HP:0007021	Pain insensitivity	10522	DEAF1	OMIM:615828
HP:0007021	Pain insensitivity	10073	SNUPN	OMIM:620793
HP:0007021	Pain insensitivity	64864	RFX7	OMIM:620330
HP:0007021	Pain insensitivity	10558	SPTLC1	ORPHA:36386
HP:0007021	Pain insensitivity	25923	ATL3	ORPHA:36386
HP:0007021	Pain insensitivity	9517	SPTLC2	ORPHA:36386
HP:0007021	Pain insensitivity	51062	ATL1	ORPHA:36386
HP:0007023	Antenatal intracerebral hemorrhage	1376	CPT2	OMIM:608836
HP:0007023	Antenatal intracerebral hemorrhage	54820	NDE1	ORPHA:2177
HP:0007024	Pseudobulbar paralysis	343641	TGM6	OMIM:613908
HP:0007024	Pseudobulbar paralysis	343641	TGM6	ORPHA:276193
HP:0007024	Pseudobulbar paralysis	5654	HTRA1	ORPHA:199354
HP:0007024	Pseudobulbar paralysis	4841	NONO	ORPHA:466791
HP:0007024	Pseudobulbar paralysis	5917	RARS1	OMIM:616140
HP:0007024	Pseudobulbar paralysis	5917	RARS1	ORPHA:438114
HP:0007024	Pseudobulbar paralysis	5832	ALDH18A1	OMIM:616586
HP:0007024	Pseudobulbar paralysis	1593	CYP27A1	OMIM:213700
HP:0007024	Pseudobulbar paralysis	9289	ADGRG1	ORPHA:98889
HP:0007024	Pseudobulbar paralysis	5297	PI4KA	ORPHA:98889
HP:0007024	Pseudobulbar paralysis	27286	SRPX2	ORPHA:98889
HP:0007024	Pseudobulbar paralysis	57679	ALS2	OMIM:606353
HP:0007024	Pseudobulbar paralysis	4001	LMNB1	OMIM:169500
HP:0007024	Pseudobulbar paralysis	2583	B4GALNT1	ORPHA:101006
HP:0007024	Pseudobulbar paralysis	116150	NUS1	OMIM:617082
HP:0007024	Pseudobulbar paralysis	9896	FIG4	ORPHA:208441
HP:0007024	Pseudobulbar paralysis	22872	SEC31A	OMIM:618651
HP:0007024	Pseudobulbar paralysis	23503	ZFYVE26	ORPHA:100996
HP:0007024	Pseudobulbar paralysis	60	ACTB	OMIM:607371
HP:0007024	Pseudobulbar paralysis	6647	SOD1	OMIM:105400
HP:0007024	Pseudobulbar paralysis	5630	PRPH	OMIM:105400
HP:0007024	Pseudobulbar paralysis	1639	DCTN1	OMIM:105400
HP:0007024	Pseudobulbar paralysis	4744	NEFH	OMIM:105400
HP:0007024	Pseudobulbar paralysis	3145	HMBS	ORPHA:79276
HP:0007024	Pseudobulbar paralysis	4854	NOTCH3	OMIM:125310
HP:0006887	Intellectual disability, progressive	51	ACOX1	OMIM:264470
HP:0006887	Intellectual disability, progressive	4204	MECP2	OMIM:300673
HP:0006887	Intellectual disability, progressive	9342	SNAP29	OMIM:609528
HP:0006887	Intellectual disability, progressive	9131	AIFM1	OMIM:300232
HP:0006887	Intellectual disability, progressive	5805	PTS	OMIM:261640
HP:0006887	Intellectual disability, progressive	3756	KCNH1	OMIM:135500
HP:0006887	Intellectual disability, progressive	145173	B3GLCT	OMIM:261540
HP:0006887	Intellectual disability, progressive	546	ATRX	OMIM:309580
HP:0006887	Intellectual disability, progressive	124997	WDR81	OMIM:610185
HP:0006887	Intellectual disability, progressive	23522	KAT6B	OMIM:606170
HP:0006887	Intellectual disability, progressive	7084	TK2	OMIM:609560
HP:0006887	Intellectual disability, progressive	2643	GCH1	OMIM:233910
HP:0006887	Intellectual disability, progressive	1509	CTSD	OMIM:610127
HP:0006887	Intellectual disability, progressive	4693	NDP	OMIM:310600
HP:0006887	Intellectual disability, progressive	4693	NDP	ORPHA:649
HP:0006887	Intellectual disability, progressive	7337	UBE3A	OMIM:105830
HP:0006887	Intellectual disability, progressive	6638	SNRPN	OMIM:105830
HP:0006887	Intellectual disability, progressive	4796	TONSL	OMIM:271510
HP:0006887	Intellectual disability, progressive	55343	SLC35C1	OMIM:266265
HP:0006887	Intellectual disability, progressive	4552	MTRR	OMIM:236270
HP:0006887	Intellectual disability, progressive	10479	SLC9A6	OMIM:300243
HP:0006887	Intellectual disability, progressive	6567	SLC16A2	OMIM:300523
HP:0006887	Intellectual disability, progressive	170302	ARX	OMIM:300004
HP:0006887	Intellectual disability, progressive	8803	SUCLA2	OMIM:612073
HP:0006887	Intellectual disability, progressive	8803	SUCLA2	ORPHA:1933
HP:0006887	Intellectual disability, progressive	1482	NKX2-5	OMIM:225250
HP:0006887	Intellectual disability, progressive	25782	RAB3GAP2	OMIM:212720
HP:0006887	Intellectual disability, progressive	54820	NDE1	OMIM:605013
HP:0006887	Intellectual disability, progressive	6925	TCF4	OMIM:610954
HP:0006887	Intellectual disability, progressive	1760	DMPK	OMIM:160900
HP:0006887	Intellectual disability, progressive	7252	TSHB	OMIM:275100
HP:0006887	Intellectual disability, progressive	5189	PEX1	OMIM:214100
HP:0006887	Intellectual disability, progressive	9179	AP4M1	OMIM:612936
HP:0006887	Intellectual disability, progressive	2068	ERCC2	ORPHA:910
HP:0006887	Intellectual disability, progressive	7507	XPA	ORPHA:910
HP:0006887	Intellectual disability, progressive	2071	ERCC3	ORPHA:910
HP:0006887	Intellectual disability, progressive	7508	XPC	ORPHA:910
HP:0006887	Intellectual disability, progressive	1643	DDB2	ORPHA:910
HP:0006887	Intellectual disability, progressive	2072	ERCC4	ORPHA:910
HP:0006887	Intellectual disability, progressive	2073	ERCC5	ORPHA:910
HP:0006887	Intellectual disability, progressive	79944	L2HGDH	ORPHA:79314
HP:0002079	Hypoplasia of the corpus callosum	2137	EXTL3	ORPHA:508533
HP:0002079	Hypoplasia of the corpus callosum	7528	YY1	ORPHA:506358
HP:0002079	Hypoplasia of the corpus callosum	29899	GPSM2	OMIM:604213
HP:0002079	Hypoplasia of the corpus callosum	8036	SHOC2	OMIM:607721
HP:0002079	Hypoplasia of the corpus callosum	23394	ADNP	ORPHA:404448
HP:0002079	Hypoplasia of the corpus callosum	55703	POLR3B	OMIM:614381
HP:0002079	Hypoplasia of the corpus callosum	55703	POLR3B	OMIM:607694
HP:0002079	Hypoplasia of the corpus callosum	10617	STAMBP	OMIM:614261
HP:0002079	Hypoplasia of the corpus callosum	26235	FBXL4	OMIM:615471
HP:0002079	Hypoplasia of the corpus callosum	104	ADARB1	OMIM:618862
HP:0002079	Hypoplasia of the corpus callosum	23019	CNOT1	OMIM:618500
HP:0002079	Hypoplasia of the corpus callosum	9853	RUSC2	OMIM:617773
HP:0002079	Hypoplasia of the corpus callosum	1763	DNA2	OMIM:620819
HP:0002079	Hypoplasia of the corpus callosum	55823	VPS11	OMIM:616683
HP:0002079	Hypoplasia of the corpus callosum	55823	VPS11	ORPHA:466934
HP:0002079	Hypoplasia of the corpus callosum	343450	KCNT2	OMIM:617771
HP:0002079	Hypoplasia of the corpus callosum	2775	GNAO1	OMIM:615473
HP:0002079	Hypoplasia of the corpus callosum	2775	GNAO1	ORPHA:1934
HP:0002079	Hypoplasia of the corpus callosum	2775	GNAO1	OMIM:617493
HP:0002079	Hypoplasia of the corpus callosum	27247	NFU1	OMIM:620938
HP:0002079	Hypoplasia of the corpus callosum	6873	TAF2	OMIM:615599
HP:0002079	Hypoplasia of the corpus callosum	6873	TAF2	ORPHA:397951
HP:0002079	Hypoplasia of the corpus callosum	1947	EFNB1	ORPHA:1520
HP:0002079	Hypoplasia of the corpus callosum	1947	EFNB1	OMIM:304110
HP:0002079	Hypoplasia of the corpus callosum	7360	UGP2	OMIM:618744
HP:0002079	Hypoplasia of the corpus callosum	81857	MED25	OMIM:616449
HP:0002079	Hypoplasia of the corpus callosum	81857	MED25	ORPHA:464738
HP:0002079	Hypoplasia of the corpus callosum	5927	KDM5A	OMIM:620820
HP:0002079	Hypoplasia of the corpus callosum	84942	WDR73	OMIM:251300
HP:0002079	Hypoplasia of the corpus callosum	10159	ATP6AP2	ORPHA:93952
HP:0002079	Hypoplasia of the corpus callosum	10159	ATP6AP2	OMIM:300423
HP:0002079	Hypoplasia of the corpus callosum	3190	HNRNPK	ORPHA:453504
HP:0002079	Hypoplasia of the corpus callosum	3190	HNRNPK	ORPHA:352665
HP:0002079	Hypoplasia of the corpus callosum	116931	MED12L	OMIM:618872
HP:0002079	Hypoplasia of the corpus callosum	10300	KATNB1	OMIM:616212
HP:0002079	Hypoplasia of the corpus callosum	10300	KATNB1	ORPHA:89844
HP:0002079	Hypoplasia of the corpus callosum	80816	ASXL3	OMIM:615485
HP:0002079	Hypoplasia of the corpus callosum	6536	SLC6A9	OMIM:617301
HP:0002079	Hypoplasia of the corpus callosum	51741	WWOX	OMIM:616211
HP:0002079	Hypoplasia of the corpus callosum	5917	RARS1	ORPHA:438114
HP:0002079	Hypoplasia of the corpus callosum	5917	RARS1	OMIM:616140
HP:0002079	Hypoplasia of the corpus callosum	27245	AHDC1	ORPHA:412069
HP:0002079	Hypoplasia of the corpus callosum	27245	AHDC1	OMIM:615829
HP:0002079	Hypoplasia of the corpus callosum	166378	AFG2A	OMIM:616577
HP:0002079	Hypoplasia of the corpus callosum	166378	AFG2A	ORPHA:457351
HP:0002079	Hypoplasia of the corpus callosum	375387	NRROS	OMIM:618875
HP:0002079	Hypoplasia of the corpus callosum	5610	EIF2AK2	OMIM:618877
HP:0002079	Hypoplasia of the corpus callosum	10381	TUBB3	OMIM:614039
HP:0002079	Hypoplasia of the corpus callosum	10381	TUBB3	ORPHA:300570
HP:0002079	Hypoplasia of the corpus callosum	10381	TUBB3	OMIM:600638
HP:0002079	Hypoplasia of the corpus callosum	284403	WDR62	OMIM:604317
HP:0002079	Hypoplasia of the corpus callosum	83696	TRAPPC9	OMIM:613192
HP:0002079	Hypoplasia of the corpus callosum	83696	TRAPPC9	ORPHA:352530
HP:0002079	Hypoplasia of the corpus callosum	284058	KANSL1	ORPHA:363958
HP:0002079	Hypoplasia of the corpus callosum	284058	KANSL1	OMIM:610443
HP:0002079	Hypoplasia of the corpus callosum	284058	KANSL1	ORPHA:363965
HP:0002079	Hypoplasia of the corpus callosum	347733	TUBB2B	ORPHA:300573
HP:0002079	Hypoplasia of the corpus callosum	347733	TUBB2B	OMIM:610031
HP:0002079	Hypoplasia of the corpus callosum	7343	UBTF	OMIM:617672
HP:0002079	Hypoplasia of the corpus callosum	7343	UBTF	ORPHA:500180
HP:0002079	Hypoplasia of the corpus callosum	6844	VAMP2	OMIM:618760
HP:0002079	Hypoplasia of the corpus callosum	79029	AFG2B	OMIM:619616
HP:0002079	Hypoplasia of the corpus callosum	11232	POLG2	OMIM:618528
HP:0002079	Hypoplasia of the corpus callosum	1183	CLCN4	ORPHA:485350
HP:0002079	Hypoplasia of the corpus callosum	1183	CLCN4	OMIM:300114
HP:0002079	Hypoplasia of the corpus callosum	83480	PUS3	ORPHA:488627
HP:0002079	Hypoplasia of the corpus callosum	6872	TAF1	ORPHA:480907
HP:0002079	Hypoplasia of the corpus callosum	6872	TAF1	OMIM:300966
HP:0002079	Hypoplasia of the corpus callosum	171023	ASXL1	ORPHA:97297
HP:0002079	Hypoplasia of the corpus callosum	171023	ASXL1	OMIM:605039
HP:0002079	Hypoplasia of the corpus callosum	4763	NF1	ORPHA:363700
HP:0002079	Hypoplasia of the corpus callosum	1656	DDX6	OMIM:618653
HP:0002079	Hypoplasia of the corpus callosum	25930	PTPN23	OMIM:618890
HP:0002079	Hypoplasia of the corpus callosum	23327	NEDD4L	OMIM:617201
HP:0002079	Hypoplasia of the corpus callosum	833	CARS1	OMIM:618891
HP:0002079	Hypoplasia of the corpus callosum	2903	GRIN2A	ORPHA:289266
HP:0002079	Hypoplasia of the corpus callosum	2903	GRIN2A	ORPHA:163721
HP:0002079	Hypoplasia of the corpus callosum	54872	PIGG	ORPHA:488635
HP:0002079	Hypoplasia of the corpus callosum	54872	PIGG	OMIM:616917
HP:0002079	Hypoplasia of the corpus callosum	57178	ZMIZ1	OMIM:618659
HP:0002079	Hypoplasia of the corpus callosum	8550	MAPKAPK5	OMIM:619869
HP:0002079	Hypoplasia of the corpus callosum	80208	SPG11	ORPHA:2822
HP:0002079	Hypoplasia of the corpus callosum	80208	SPG11	OMIM:604360
HP:0002079	Hypoplasia of the corpus callosum	80208	SPG11	OMIM:616668
HP:0002079	Hypoplasia of the corpus callosum	93627	TBCK	ORPHA:488632
HP:0002079	Hypoplasia of the corpus callosum	93627	TBCK	OMIM:616900
HP:0002079	Hypoplasia of the corpus callosum	11193	WBP4	OMIM:620852
HP:0002079	Hypoplasia of the corpus callosum	79731	NARS2	OMIM:616239
HP:0002079	Hypoplasia of the corpus callosum	6905	TBCE	OMIM:617207
HP:0002079	Hypoplasia of the corpus callosum	6905	TBCE	OMIM:241410
HP:0002079	Hypoplasia of the corpus callosum	6905	TBCE	ORPHA:496756
HP:0002079	Hypoplasia of the corpus callosum	55361	PI4K2A	OMIM:620732
HP:0002079	Hypoplasia of the corpus callosum	8642	DCHS1	OMIM:601390
HP:0002079	Hypoplasia of the corpus callosum	8642	DCHS1	ORPHA:314679
HP:0002079	Hypoplasia of the corpus callosum	26040	SETBP1	OMIM:269150
HP:0002079	Hypoplasia of the corpus callosum	26040	SETBP1	ORPHA:798
HP:0002079	Hypoplasia of the corpus callosum	26834	RNU4-2	OMIM:620851
HP:0002079	Hypoplasia of the corpus callosum	1499	CTNNB1	ORPHA:404473
HP:0002079	Hypoplasia of the corpus callosum	1499	CTNNB1	OMIM:615075
HP:0002079	Hypoplasia of the corpus callosum	5518	PPP2R1A	OMIM:616362
HP:0002079	Hypoplasia of the corpus callosum	5518	PPP2R1A	ORPHA:457284
HP:0002079	Hypoplasia of the corpus callosum	113612	CYP2U1	OMIM:615030
HP:0002079	Hypoplasia of the corpus callosum	113612	CYP2U1	ORPHA:320411
HP:0002079	Hypoplasia of the corpus callosum	2261	FGFR3	OMIM:616482
HP:0002079	Hypoplasia of the corpus callosum	2261	FGFR3	ORPHA:85165
HP:0002079	Hypoplasia of the corpus callosum	9895	TECPR2	OMIM:615031
HP:0002079	Hypoplasia of the corpus callosum	9895	TECPR2	ORPHA:320385
HP:0002079	Hypoplasia of the corpus callosum	10717	AP4B1	OMIM:614066
HP:0002079	Hypoplasia of the corpus callosum	10717	AP4B1	ORPHA:280763
HP:0002079	Hypoplasia of the corpus callosum	84879	MFSD2A	OMIM:616486
HP:0002079	Hypoplasia of the corpus callosum	91574	MTRFR	OMIM:615035
HP:0002079	Hypoplasia of the corpus callosum	91574	MTRFR	ORPHA:320375
HP:0002079	Hypoplasia of the corpus callosum	91574	MTRFR	ORPHA:254930
HP:0002079	Hypoplasia of the corpus callosum	84504	NKX6-2	ORPHA:527497
HP:0002079	Hypoplasia of the corpus callosum	23126	POGZ	OMIM:616364
HP:0002079	Hypoplasia of the corpus callosum	23126	POGZ	ORPHA:468678
HP:0002079	Hypoplasia of the corpus callosum	55773	TBC1D23	OMIM:617695
HP:0002079	Hypoplasia of the corpus callosum	8558	CDK10	OMIM:617694
HP:0002079	Hypoplasia of the corpus callosum	23259	DDHD2	OMIM:615033
HP:0002079	Hypoplasia of the corpus callosum	23259	DDHD2	ORPHA:320380
HP:0002079	Hypoplasia of the corpus callosum	51633	OTUD6B	OMIM:617452
HP:0002079	Hypoplasia of the corpus callosum	4613	MYCN	OMIM:620748
HP:0002079	Hypoplasia of the corpus callosum	5048	PAFAH1B1	ORPHA:217385
HP:0002079	Hypoplasia of the corpus callosum	5048	PAFAH1B1	ORPHA:531
HP:0002079	Hypoplasia of the corpus callosum	5048	PAFAH1B1	ORPHA:95232
HP:0002079	Hypoplasia of the corpus callosum	7531	YWHAE	ORPHA:217385
HP:0002079	Hypoplasia of the corpus callosum	7531	YWHAE	ORPHA:531
HP:0002079	Hypoplasia of the corpus callosum	57282	SLC4A10	OMIM:620746
HP:0002079	Hypoplasia of the corpus callosum	3098	HK1	OMIM:618547
HP:0002079	Hypoplasia of the corpus callosum	1859	DYRK1A	ORPHA:464311
HP:0002079	Hypoplasia of the corpus callosum	1859	DYRK1A	ORPHA:268261
HP:0002079	Hypoplasia of the corpus callosum	85365	ALG2	ORPHA:79326
HP:0002079	Hypoplasia of the corpus callosum	26137	ZBTB20	OMIM:259050
HP:0002079	Hypoplasia of the corpus callosum	9533	POLR1C	OMIM:616494
HP:0002079	Hypoplasia of the corpus callosum	1615	DARS1	OMIM:615281
HP:0002079	Hypoplasia of the corpus callosum	3800	KIF5C	OMIM:615282
HP:0002079	Hypoplasia of the corpus callosum	253959	RALGAPA1	OMIM:618797
HP:0002079	Hypoplasia of the corpus callosum	2232	FDXR	ORPHA:543470
HP:0002079	Hypoplasia of the corpus callosum	51098	IFT52	OMIM:617102
HP:0002079	Hypoplasia of the corpus callosum	4849	CNOT3	OMIM:618672
HP:0002079	Hypoplasia of the corpus callosum	6506	SLC1A2	OMIM:617105
HP:0002079	Hypoplasia of the corpus callosum	10297	APC2	OMIM:618677
HP:0002079	Hypoplasia of the corpus callosum	57466	SCAF4	OMIM:620511
HP:0002079	Hypoplasia of the corpus callosum	25973	PARS2	OMIM:618437
HP:0002079	Hypoplasia of the corpus callosum	79971	WLS	OMIM:619648
HP:0002079	Hypoplasia of the corpus callosum	2558	GABRA5	OMIM:618559
HP:0002079	Hypoplasia of the corpus callosum	79633	FAT4	ORPHA:314679
HP:0002079	Hypoplasia of the corpus callosum	79633	FAT4	OMIM:615546
HP:0002079	Hypoplasia of the corpus callosum	7841	MOGS	ORPHA:79330
HP:0002079	Hypoplasia of the corpus callosum	7841	MOGS	OMIM:606056
HP:0002079	Hypoplasia of the corpus callosum	6925	TCF4	OMIM:610954
HP:0002079	Hypoplasia of the corpus callosum	10743	RAI1	ORPHA:1713
HP:0002079	Hypoplasia of the corpus callosum	57688	ZSWIM6	OMIM:603671
HP:0002079	Hypoplasia of the corpus callosum	4208	MEF2C	ORPHA:228384
HP:0002079	Hypoplasia of the corpus callosum	23162	MAPK8IP3	OMIM:618443
HP:0002079	Hypoplasia of the corpus callosum	3798	KIF5A	OMIM:617235
HP:0002079	Hypoplasia of the corpus callosum	8565	YARS1	OMIM:619418
HP:0002079	Hypoplasia of the corpus callosum	51227	PIGP	OMIM:617599
HP:0002079	Hypoplasia of the corpus callosum	51227	PIGP	ORPHA:1934
HP:0002079	Hypoplasia of the corpus callosum	3785	KCNQ2	ORPHA:439218
HP:0002079	Hypoplasia of the corpus callosum	3785	KCNQ2	OMIM:613720
HP:0002079	Hypoplasia of the corpus callosum	23499	MACF1	OMIM:618325
HP:0002079	Hypoplasia of the corpus callosum	374969	SVBP	OMIM:618569
HP:0002079	Hypoplasia of the corpus callosum	51062	ATL1	OMIM:182600
HP:0002079	Hypoplasia of the corpus callosum	10195	ALG3	ORPHA:79321
HP:0002079	Hypoplasia of the corpus callosum	79087	ALG12	ORPHA:79324
HP:0002079	Hypoplasia of the corpus callosum	79053	ALG8	ORPHA:79325
HP:0002079	Hypoplasia of the corpus callosum	9896	FIG4	OMIM:216340
HP:0002079	Hypoplasia of the corpus callosum	3897	L1CAM	OMIM:304100
HP:0002079	Hypoplasia of the corpus callosum	8295	TRRAP	OMIM:618454
HP:0002079	Hypoplasia of the corpus callosum	9742	IFT140	OMIM:266920
HP:0002079	Hypoplasia of the corpus callosum	7040	TGFB1	OMIM:618213
HP:0002079	Hypoplasia of the corpus callosum	58497	PRUNE1	OMIM:617481
HP:0002079	Hypoplasia of the corpus callosum	8621	CDK13	OMIM:617360
HP:0002079	Hypoplasia of the corpus callosum	5881	RAC3	OMIM:618577
HP:0002079	Hypoplasia of the corpus callosum	133686	NADK2	OMIM:616034
HP:0002079	Hypoplasia of the corpus callosum	133686	NADK2	ORPHA:431361
HP:0002079	Hypoplasia of the corpus callosum	22930	RAB3GAP1	OMIM:619420
HP:0002079	Hypoplasia of the corpus callosum	22930	RAB3GAP1	OMIM:600118
HP:0002079	Hypoplasia of the corpus callosum	27429	HTRA2	OMIM:617248
HP:0002079	Hypoplasia of the corpus callosum	11338	U2AF2	OMIM:620535
HP:0002079	Hypoplasia of the corpus callosum	51013	EXOSC1	OMIM:619304
HP:0002079	Hypoplasia of the corpus callosum	55770	EXOC2	OMIM:619306
HP:0002079	Hypoplasia of the corpus callosum	6792	CDKL5	ORPHA:1934
HP:0002079	Hypoplasia of the corpus callosum	3736	KCNA1	ORPHA:1934
HP:0002079	Hypoplasia of the corpus callosum	9091	PIGQ	ORPHA:1934
HP:0002079	Hypoplasia of the corpus callosum	140679	SLC32A1	ORPHA:1934
HP:0002079	Hypoplasia of the corpus callosum	81603	TRIM8	ORPHA:1934
HP:0002079	Hypoplasia of the corpus callosum	2902	GRIN1	ORPHA:1934
HP:0002079	Hypoplasia of the corpus callosum	2902	GRIN1	ORPHA:208447
HP:0002079	Hypoplasia of the corpus callosum	2902	GRIN1	OMIM:617820
HP:0002079	Hypoplasia of the corpus callosum	2902	GRIN1	OMIM:614254
HP:0002079	Hypoplasia of the corpus callosum	79751	SLC25A22	ORPHA:1934
HP:0002079	Hypoplasia of the corpus callosum	150094	SIK1	ORPHA:1934
HP:0002079	Hypoplasia of the corpus callosum	8573	CASK	ORPHA:1934
HP:0002079	Hypoplasia of the corpus callosum	23312	DMXL2	ORPHA:1934
HP:0002079	Hypoplasia of the corpus callosum	2917	GRM7	ORPHA:1934
HP:0002079	Hypoplasia of the corpus callosum	2917	GRM7	OMIM:618922
HP:0002079	Hypoplasia of the corpus callosum	170302	ARX	ORPHA:1934
HP:0002079	Hypoplasia of the corpus callosum	11284	PNKP	ORPHA:1934
HP:0002079	Hypoplasia of the corpus callosum	11284	PNKP	OMIM:613402
HP:0002079	Hypoplasia of the corpus callosum	6326	SCN2A	ORPHA:1934
HP:0002079	Hypoplasia of the corpus callosum	6324	SCN1B	ORPHA:1934
HP:0002079	Hypoplasia of the corpus callosum	4761	NEUROD2	ORPHA:1934
HP:0002079	Hypoplasia of the corpus callosum	4761	NEUROD2	OMIM:618374
HP:0002079	Hypoplasia of the corpus callosum	9361	LONP1	OMIM:600373
HP:0002079	Hypoplasia of the corpus callosum	9361	LONP1	ORPHA:79243
HP:0002079	Hypoplasia of the corpus callosum	22827	PUF60	ORPHA:508498
HP:0002079	Hypoplasia of the corpus callosum	22827	PUF60	ORPHA:508488
HP:0002079	Hypoplasia of the corpus callosum	9488	PIGB	OMIM:618580
HP:0002079	Hypoplasia of the corpus callosum	3912	LAMB1	OMIM:615191
HP:0002079	Hypoplasia of the corpus callosum	84706	GPT2	OMIM:616281
HP:0002079	Hypoplasia of the corpus callosum	84706	GPT2	ORPHA:477673
HP:0002079	Hypoplasia of the corpus callosum	4558	MT-TF	ORPHA:550
HP:0002079	Hypoplasia of the corpus callosum	4572	MT-TQ	ORPHA:550
HP:0002079	Hypoplasia of the corpus callosum	4512	MT-CO1	ORPHA:550
HP:0002079	Hypoplasia of the corpus callosum	4513	MT-CO2	ORPHA:550
HP:0002079	Hypoplasia of the corpus callosum	4514	MT-CO3	ORPHA:550
HP:0002079	Hypoplasia of the corpus callosum	4578	MT-TW	ORPHA:550
HP:0002079	Hypoplasia of the corpus callosum	4540	MT-ND5	ORPHA:550
HP:0002079	Hypoplasia of the corpus callosum	4541	MT-ND6	ORPHA:550
HP:0002079	Hypoplasia of the corpus callosum	4535	MT-ND1	ORPHA:550
HP:0002079	Hypoplasia of the corpus callosum	4538	MT-ND4	ORPHA:550
HP:0002079	Hypoplasia of the corpus callosum	4567	MT-TL1	ORPHA:550
HP:0002079	Hypoplasia of the corpus callosum	4574	MT-TS1	ORPHA:550
HP:0002079	Hypoplasia of the corpus callosum	4575	MT-TS2	ORPHA:550
HP:0002079	Hypoplasia of the corpus callosum	4564	MT-TH	ORPHA:550
HP:0002079	Hypoplasia of the corpus callosum	79876	UBA5	OMIM:617132
HP:0002079	Hypoplasia of the corpus callosum	160418	TMTC3	OMIM:617255
HP:0002079	Hypoplasia of the corpus callosum	8506	CNTNAP1	OMIM:616286
HP:0002079	Hypoplasia of the corpus callosum	8506	CNTNAP1	OMIM:618186
HP:0002079	Hypoplasia of the corpus callosum	2187	FANCB	OMIM:300514
HP:0002079	Hypoplasia of the corpus callosum	10765	KDM5B	OMIM:618109
HP:0002079	Hypoplasia of the corpus callosum	10564	ARFGEF2	OMIM:608097
HP:0002079	Hypoplasia of the corpus callosum	85476	GFM1	OMIM:609060
HP:0002079	Hypoplasia of the corpus callosum	51412	ACTL6B	OMIM:618468
HP:0002079	Hypoplasia of the corpus callosum	51412	ACTL6B	OMIM:618470
HP:0002079	Hypoplasia of the corpus callosum	2653	GCSH	OMIM:620423
HP:0002079	Hypoplasia of the corpus callosum	100151683	RNU4ATAC	ORPHA:353298
HP:0002079	Hypoplasia of the corpus callosum	100151683	RNU4ATAC	OMIM:210710
HP:0002079	Hypoplasia of the corpus callosum	11267	SNF8	OMIM:620784
HP:0002079	Hypoplasia of the corpus callosum	11267	SNF8	OMIM:620783
HP:0002079	Hypoplasia of the corpus callosum	84320	ACBD6	OMIM:620785
HP:0002079	Hypoplasia of the corpus callosum	2671	GFER	ORPHA:330054
HP:0002079	Hypoplasia of the corpus callosum	1605	DAG1	ORPHA:370997
HP:0002079	Hypoplasia of the corpus callosum	1605	DAG1	OMIM:616538
HP:0002079	Hypoplasia of the corpus callosum	11160	ERLIN2	ORPHA:209951
HP:0002079	Hypoplasia of the corpus callosum	11160	ERLIN2	OMIM:611225
HP:0002079	Hypoplasia of the corpus callosum	56945	MRPS22	OMIM:611719
HP:0002079	Hypoplasia of the corpus callosum	128869	PIGU	OMIM:618590
HP:0002079	Hypoplasia of the corpus callosum	5631	PRPS1	ORPHA:423479
HP:0002079	Hypoplasia of the corpus callosum	7707	ZNF148	OMIM:617260
HP:0002079	Hypoplasia of the corpus callosum	2972	BRF1	ORPHA:444072
HP:0002079	Hypoplasia of the corpus callosum	1349	COX7B	OMIM:300887
HP:0002079	Hypoplasia of the corpus callosum	5515	PPP2CA	OMIM:618354
HP:0002079	Hypoplasia of the corpus callosum	55610	VPS50	OMIM:619685
HP:0002079	Hypoplasia of the corpus callosum	4695	NDUFA2	OMIM:618235
HP:0002079	Hypoplasia of the corpus callosum	6651	SON	OMIM:617140
HP:0002079	Hypoplasia of the corpus callosum	6651	SON	ORPHA:500150
HP:0002079	Hypoplasia of the corpus callosum	5649	RELN	ORPHA:89844
HP:0002079	Hypoplasia of the corpus callosum	54820	NDE1	ORPHA:89844
HP:0002079	Hypoplasia of the corpus callosum	55262	TRAPPC14	OMIM:618351
HP:0002079	Hypoplasia of the corpus callosum	1654	DDX3X	ORPHA:457260
HP:0002079	Hypoplasia of the corpus callosum	1654	DDX3X	OMIM:300958
HP:0002079	Hypoplasia of the corpus callosum	1654	DDX3X	ORPHA:3338
HP:0002079	Hypoplasia of the corpus callosum	8312	AXIN1	OMIM:620558
HP:0002079	Hypoplasia of the corpus callosum	5660	PSAP	OMIM:611721
HP:0002079	Hypoplasia of the corpus callosum	26128	KIFBP	ORPHA:66629
HP:0002079	Hypoplasia of the corpus callosum	26128	KIFBP	OMIM:609460
HP:0002079	Hypoplasia of the corpus callosum	7846	TUBA1A	OMIM:611603
HP:0002079	Hypoplasia of the corpus callosum	7846	TUBA1A	ORPHA:171680
HP:0002079	Hypoplasia of the corpus callosum	154881	KCTD7	OMIM:611726
HP:0002079	Hypoplasia of the corpus callosum	9179	AP4M1	OMIM:612936
HP:0002079	Hypoplasia of the corpus callosum	9179	AP4M1	ORPHA:280763
HP:0002079	Hypoplasia of the corpus callosum	29954	POMT2	OMIM:236670
HP:0002079	Hypoplasia of the corpus callosum	29954	POMT2	ORPHA:370968
HP:0002079	Hypoplasia of the corpus callosum	29954	POMT2	OMIM:613156
HP:0002079	Hypoplasia of the corpus callosum	79147	FKRP	OMIM:236670
HP:0002079	Hypoplasia of the corpus callosum	79147	FKRP	ORPHA:370968
HP:0002079	Hypoplasia of the corpus callosum	2218	FKTN	OMIM:236670
HP:0002079	Hypoplasia of the corpus callosum	10585	POMT1	OMIM:236670
HP:0002079	Hypoplasia of the corpus callosum	10585	POMT1	ORPHA:370968
HP:0002079	Hypoplasia of the corpus callosum	10585	POMT1	OMIM:613155
HP:0002079	Hypoplasia of the corpus callosum	9215	LARGE1	OMIM:236670
HP:0002079	Hypoplasia of the corpus callosum	9215	LARGE1	ORPHA:370968
HP:0002079	Hypoplasia of the corpus callosum	6904	TBCD	ORPHA:496641
HP:0002079	Hypoplasia of the corpus callosum	6904	TBCD	OMIM:617193
HP:0002079	Hypoplasia of the corpus callosum	29925	GMPPB	ORPHA:370968
HP:0002079	Hypoplasia of the corpus callosum	7337	UBE3A	ORPHA:98794
HP:0002079	Hypoplasia of the corpus callosum	4948	OCA2	ORPHA:98794
HP:0002079	Hypoplasia of the corpus callosum	473	RERE	ORPHA:494344
HP:0002079	Hypoplasia of the corpus callosum	473	RERE	OMIM:616975
HP:0002079	Hypoplasia of the corpus callosum	4784	NFIX	OMIM:602535
HP:0002079	Hypoplasia of the corpus callosum	4784	NFIX	ORPHA:420179
HP:0002079	Hypoplasia of the corpus callosum	4784	NFIX	OMIM:614753
HP:0002079	Hypoplasia of the corpus callosum	84340	GFM2	ORPHA:565624
HP:0002079	Hypoplasia of the corpus callosum	22796	COG2	OMIM:617395
HP:0002079	Hypoplasia of the corpus callosum	22796	COG2	ORPHA:435934
HP:0002079	Hypoplasia of the corpus callosum	2560	GABRB1	OMIM:617153
HP:0002079	Hypoplasia of the corpus callosum	10588	MTHFS	OMIM:618367
HP:0002079	Hypoplasia of the corpus callosum	23221	RHOBTB2	OMIM:618004
HP:0002079	Hypoplasia of the corpus callosum	8120	AP3B2	OMIM:617276
HP:0002079	Hypoplasia of the corpus callosum	23476	BRD4	OMIM:620568
HP:0002079	Hypoplasia of the corpus callosum	7965	AIMP2	OMIM:618006
HP:0002079	Hypoplasia of the corpus callosum	201163	FLCN	OMIM:610883
HP:0002079	Hypoplasia of the corpus callosum	29920	PYCR2	ORPHA:481152
HP:0002079	Hypoplasia of the corpus callosum	29920	PYCR2	OMIM:616420
HP:0002079	Hypoplasia of the corpus callosum	7703	PCGF2	OMIM:618371
HP:0002079	Hypoplasia of the corpus callosum	1781	DYNC1I2	OMIM:618492
HP:0002079	Hypoplasia of the corpus callosum	29968	PSAT1	ORPHA:284417
HP:0002079	Hypoplasia of the corpus callosum	191	AHCY	ORPHA:88618
HP:0002079	Hypoplasia of the corpus callosum	51324	SPG21	ORPHA:101001
HP:0002079	Hypoplasia of the corpus callosum	7161	TP73	OMIM:619466
HP:0002079	Hypoplasia of the corpus callosum	11342	RNF13	OMIM:618379
HP:0002079	Hypoplasia of the corpus callosum	11342	RNF13	ORPHA:544503
HP:0002079	Hypoplasia of the corpus callosum	9758	FRMPD4	OMIM:300983
HP:0002079	Hypoplasia of the corpus callosum	5277	PIGA	OMIM:300868
HP:0002079	Hypoplasia of the corpus callosum	1822	ATN1	OMIM:618494
HP:0002079	Hypoplasia of the corpus callosum	523	ATP6V1A	OMIM:618012
HP:0002079	Hypoplasia of the corpus callosum	5332	PLCB4	OMIM:620458
HP:0002079	Hypoplasia of the corpus callosum	4990	SIX6	OMIM:206900
HP:0002079	Hypoplasia of the corpus callosum	6657	SOX2	OMIM:206900
HP:0002079	Hypoplasia of the corpus callosum	8883	NAE1	OMIM:620210
HP:0002079	Hypoplasia of the corpus callosum	80185	TTI2	ORPHA:391307
HP:0002079	Hypoplasia of the corpus callosum	50801	KCNK4	OMIM:618381
HP:0002079	Hypoplasia of the corpus callosum	11340	EXOSC8	OMIM:616081
HP:0002079	Hypoplasia of the corpus callosum	84265	POLR3GL	OMIM:619234
HP:0002079	Hypoplasia of the corpus callosum	9851	KIAA0753	OMIM:619479
HP:0002079	Hypoplasia of the corpus callosum	2892	GRIA3	ORPHA:364028
HP:0002079	Hypoplasia of the corpus callosum	348180	CTU2	OMIM:618142
HP:0002079	Hypoplasia of the corpus callosum	26005	C2CD3	ORPHA:434179
HP:0002079	Hypoplasia of the corpus callosum	26005	C2CD3	OMIM:615948
HP:0002079	Hypoplasia of the corpus callosum	57514	ARHGAP31	OMIM:100300
HP:0002079	Hypoplasia of the corpus callosum	51091	SEPSECS	OMIM:613811
HP:0002079	Hypoplasia of the corpus callosum	51091	SEPSECS	ORPHA:2524
HP:0002079	Hypoplasia of the corpus callosum	51360	MBTPS2	OMIM:308205
HP:0002079	Hypoplasia of the corpus callosum	2571	GAD1	OMIM:619124
HP:0002079	Hypoplasia of the corpus callosum	2222	FDFT1	OMIM:618156
HP:0002079	Hypoplasia of the corpus callosum	203068	TUBB	OMIM:156610
HP:0002079	Hypoplasia of the corpus callosum	285590	SH3PXD2B	OMIM:249420
HP:0002079	Hypoplasia of the corpus callosum	90522	YIF1B	OMIM:619125
HP:0002079	Hypoplasia of the corpus callosum	374354	NHLRC2	OMIM:618278
HP:0002079	Hypoplasia of the corpus callosum	8239	USP9X	OMIM:300968
HP:0002079	Hypoplasia of the corpus callosum	8239	USP9X	ORPHA:480880
HP:0002079	Hypoplasia of the corpus callosum	9326	ZNHIT3	OMIM:260565
HP:0002079	Hypoplasia of the corpus callosum	6472	SHMT2	OMIM:619121
HP:0002079	Hypoplasia of the corpus callosum	29123	ANKRD11	ORPHA:261250
HP:0002079	Hypoplasia of the corpus callosum	79152	FA2H	ORPHA:171629
HP:0002079	Hypoplasia of the corpus callosum	79152	FA2H	ORPHA:329308
HP:0002079	Hypoplasia of the corpus callosum	79152	FA2H	OMIM:612319
HP:0002079	Hypoplasia of the corpus callosum	9373	PLAA	ORPHA:521426
HP:0002079	Hypoplasia of the corpus callosum	9373	PLAA	OMIM:617527
HP:0002079	Hypoplasia of the corpus callosum	118924	FRA10AC1	OMIM:620113
HP:0002079	Hypoplasia of the corpus callosum	8911	CACNA1I	OMIM:620114
HP:0002079	Hypoplasia of the corpus callosum	93587	TRMT10A	ORPHA:391408
HP:0002079	Hypoplasia of the corpus callosum	84919	PPP1R15B	ORPHA:391408
HP:0002079	Hypoplasia of the corpus callosum	84919	PPP1R15B	OMIM:616817
HP:0002079	Hypoplasia of the corpus callosum	3090	HIC1	ORPHA:531
HP:0002079	Hypoplasia of the corpus callosum	6748	SSR4	ORPHA:370927
HP:0002079	Hypoplasia of the corpus callosum	6748	SSR4	OMIM:300934
HP:0002079	Hypoplasia of the corpus callosum	2177	FANCD2	OMIM:227646
HP:0002079	Hypoplasia of the corpus callosum	2629	GBA1	ORPHA:2072
HP:0002079	Hypoplasia of the corpus callosum	340533	NEXMIF	ORPHA:85277
HP:0002079	Hypoplasia of the corpus callosum	89970	RSPRY1	ORPHA:457395
HP:0002079	Hypoplasia of the corpus callosum	54187	NANS	OMIM:610442
HP:0002079	Hypoplasia of the corpus callosum	55005	RMND1	OMIM:614922
HP:0002079	Hypoplasia of the corpus callosum	3295	HSD17B4	OMIM:261515
HP:0002079	Hypoplasia of the corpus callosum	124454	EARS2	OMIM:614924
HP:0002079	Hypoplasia of the corpus callosum	84153	RNASEH2C	OMIM:610329
HP:0002079	Hypoplasia of the corpus callosum	84153	RNASEH2C	ORPHA:51
HP:0002079	Hypoplasia of the corpus callosum	10079	ATP9A	OMIM:620242
HP:0002079	Hypoplasia of the corpus callosum	23299	BICD2	OMIM:618291
HP:0002079	Hypoplasia of the corpus callosum	64802	NMNAT1	OMIM:619260
HP:0002079	Hypoplasia of the corpus callosum	129285	PPP1R21	OMIM:619383
HP:0002079	Hypoplasia of the corpus callosum	114034	TOE1	ORPHA:284339
HP:0002079	Hypoplasia of the corpus callosum	114034	TOE1	OMIM:614969
HP:0002079	Hypoplasia of the corpus callosum	9562	MINPP1	ORPHA:284339
HP:0002079	Hypoplasia of the corpus callosum	2316	FLNA	ORPHA:555877
HP:0002079	Hypoplasia of the corpus callosum	2316	FLNA	OMIM:300049
HP:0002079	Hypoplasia of the corpus callosum	84842	HPDL	OMIM:619026
HP:0002079	Hypoplasia of the corpus callosum	1496	CTNNA2	OMIM:618174
HP:0002079	Hypoplasia of the corpus callosum	221927	BRAT1	OMIM:618056
HP:0002079	Hypoplasia of the corpus callosum	27445	PCLO	OMIM:608027
HP:0002079	Hypoplasia of the corpus callosum	3480	IGF1R	OMIM:270450
HP:0002079	Hypoplasia of the corpus callosum	374654	KIF7	ORPHA:166024
HP:0002079	Hypoplasia of the corpus callosum	374654	KIF7	OMIM:607131
HP:0002079	Hypoplasia of the corpus callosum	8085	KMT2D	OMIM:147920
HP:0002079	Hypoplasia of the corpus callosum	7403	KDM6A	OMIM:147920
HP:0002079	Hypoplasia of the corpus callosum	10682	EBP	ORPHA:401973
HP:0002079	Hypoplasia of the corpus callosum	6095	RORA	OMIM:618060
HP:0002079	Hypoplasia of the corpus callosum	11113	CIT	OMIM:617090
HP:0002079	Hypoplasia of the corpus callosum	8450	CUL4B	OMIM:300354
HP:0002079	Hypoplasia of the corpus callosum	9131	AIFM1	OMIM:300232
HP:0002079	Hypoplasia of the corpus callosum	9131	AIFM1	ORPHA:83629
HP:0002079	Hypoplasia of the corpus callosum	6535	SLC6A8	OMIM:300352
HP:0002079	Hypoplasia of the corpus callosum	7355	SLC35A2	ORPHA:356961
HP:0002079	Hypoplasia of the corpus callosum	7355	SLC35A2	OMIM:300896
HP:0002079	Hypoplasia of the corpus callosum	347734	SLC35B2	OMIM:620269
HP:0002079	Hypoplasia of the corpus callosum	781	CACNA2D1	OMIM:620149
HP:0002079	Hypoplasia of the corpus callosum	4774	NFIA	OMIM:613735
HP:0002079	Hypoplasia of the corpus callosum	8496	PPFIBP1	OMIM:620024
HP:0002079	Hypoplasia of the corpus callosum	132158	GLYCTK	ORPHA:941
HP:0002079	Hypoplasia of the corpus callosum	9839	ZEB2	OMIM:235730
HP:0002079	Hypoplasia of the corpus callosum	9839	ZEB2	ORPHA:261552
HP:0002079	Hypoplasia of the corpus callosum	9839	ZEB2	ORPHA:261537
HP:0002079	Hypoplasia of the corpus callosum	57176	VARS2	OMIM:615917
HP:0002079	Hypoplasia of the corpus callosum	80222	TARS2	OMIM:615918
HP:0002079	Hypoplasia of the corpus callosum	54209	TREM2	OMIM:618193
HP:0002079	Hypoplasia of the corpus callosum	200205	IBA57	ORPHA:468661
HP:0002079	Hypoplasia of the corpus callosum	200205	IBA57	OMIM:615330
HP:0002079	Hypoplasia of the corpus callosum	80232	WDR26	ORPHA:513456
HP:0002079	Hypoplasia of the corpus callosum	80232	WDR26	OMIM:617616
HP:0002079	Hypoplasia of the corpus callosum	89910	UBE3B	OMIM:244450
HP:0002079	Hypoplasia of the corpus callosum	80055	PGAP1	OMIM:615802
HP:0002079	Hypoplasia of the corpus callosum	9915	ARNT2	OMIM:615926
HP:0002079	Hypoplasia of the corpus callosum	29072	SETD2	OMIM:620157
HP:0002079	Hypoplasia of the corpus callosum	29072	SETD2	OMIM:620155
HP:0002079	Hypoplasia of the corpus callosum	57582	KCNT1	OMIM:614959
HP:0002079	Hypoplasia of the corpus callosum	55780	ERMARD	ORPHA:75857
HP:0002079	Hypoplasia of the corpus callosum	10978	CLP1	OMIM:615803
HP:0002079	Hypoplasia of the corpus callosum	26153	KIF26A	OMIM:620156
HP:0002079	Hypoplasia of the corpus callosum	271	AMPD2	OMIM:615809
HP:0002079	Hypoplasia of the corpus callosum	271	AMPD2	OMIM:615686
HP:0002079	Hypoplasia of the corpus callosum	25839	COG4	ORPHA:263501
HP:0002079	Hypoplasia of the corpus callosum	25839	COG4	OMIM:613489
HP:0002079	Hypoplasia of the corpus callosum	4001	LMNB1	OMIM:619179
HP:0002079	Hypoplasia of the corpus callosum	57492	ARID1B	OMIM:135900
HP:0002079	Hypoplasia of the corpus callosum	5119	CHMP1A	OMIM:614961
HP:0002079	Hypoplasia of the corpus callosum	55157	DARS2	ORPHA:137898
HP:0002079	Hypoplasia of the corpus callosum	10000	AKT3	OMIM:615937
HP:0002079	Hypoplasia of the corpus callosum	501	ALDH7A1	ORPHA:3006
HP:0002079	Hypoplasia of the corpus callosum	11212	PLPBP	ORPHA:3006
HP:0002079	Hypoplasia of the corpus callosum	1717	DHCR7	OMIM:270400
HP:0002079	Hypoplasia of the corpus callosum	23116	TOGARAM1	OMIM:619185
HP:0002079	Hypoplasia of the corpus callosum	57531	HACE1	ORPHA:464282
HP:0002079	Hypoplasia of the corpus callosum	57531	HACE1	OMIM:616756
HP:0002079	Hypoplasia of the corpus callosum	23400	ATP13A2	ORPHA:513436
HP:0002079	Hypoplasia of the corpus callosum	80856	LNPK	OMIM:618090
HP:0002079	Hypoplasia of the corpus callosum	26278	SACS	ORPHA:98
HP:0002079	Hypoplasia of the corpus callosum	1641	DCX	ORPHA:2148
HP:0002079	Hypoplasia of the corpus callosum	4338	MOCS2	OMIM:252160
HP:0002079	Hypoplasia of the corpus callosum	2752	GLUL	OMIM:610015
HP:0002079	Hypoplasia of the corpus callosum	25942	SIN3A	OMIM:613406
HP:0002079	Hypoplasia of the corpus callosum	9907	AP5Z1	OMIM:613647
HP:0002079	Hypoplasia of the corpus callosum	9907	AP5Z1	ORPHA:306511
HP:0002079	Hypoplasia of the corpus callosum	54496	PRMT7	ORPHA:464288
HP:0002079	Hypoplasia of the corpus callosum	23265	EXOC7	OMIM:619072
HP:0002079	Hypoplasia of the corpus callosum	9653	HS2ST1	OMIM:619194
HP:0002079	Hypoplasia of the corpus callosum	1798	DPAGT1	ORPHA:86309
HP:0002079	Hypoplasia of the corpus callosum	7025	NR2F1	ORPHA:401777
HP:0002079	Hypoplasia of the corpus callosum	1267	CNP	OMIM:619071
HP:0002079	Hypoplasia of the corpus callosum	149371	EXOC8	OMIM:619076
HP:0002079	Hypoplasia of the corpus callosum	57498	KIDINS220	ORPHA:521390
HP:0002079	Hypoplasia of the corpus callosum	56006	SMG9	OMIM:616920
HP:0002079	Hypoplasia of the corpus callosum	27286	SRPX2	ORPHA:163721
HP:0002079	Hypoplasia of the corpus callosum	285175	UNC80	OMIM:616801
HP:0002079	Hypoplasia of the corpus callosum	285175	UNC80	ORPHA:371364
HP:0002079	Hypoplasia of the corpus callosum	79753	SNIP1	OMIM:614501
HP:0002079	Hypoplasia of the corpus callosum	54499	TMCO1	OMIM:213980
HP:0002079	Hypoplasia of the corpus callosum	54499	TMCO1	ORPHA:1394
HP:0002079	Hypoplasia of the corpus callosum	11128	POLR3A	ORPHA:447896
HP:0002079	Hypoplasia of the corpus callosum	11128	POLR3A	OMIM:607694
HP:0002079	Hypoplasia of the corpus callosum	10236	HNRNPR	OMIM:620073
HP:0002079	Hypoplasia of the corpus callosum	23503	ZFYVE26	OMIM:270700
HP:0002079	Hypoplasia of the corpus callosum	23503	ZFYVE26	ORPHA:100996
HP:0002079	Hypoplasia of the corpus callosum	79813	EHMT1	ORPHA:261652
HP:0002079	Hypoplasia of the corpus callosum	58508	KMT2C	ORPHA:261652
HP:0002079	Hypoplasia of the corpus callosum	4094	MAF	ORPHA:1272
HP:0002079	Hypoplasia of the corpus callosum	5591	PRKDC	OMIM:615966
HP:0002079	Hypoplasia of the corpus callosum	6605	SMARCE1	OMIM:616938
HP:0002079	Hypoplasia of the corpus callosum	51244	CCDC174	OMIM:616816
HP:0002079	Hypoplasia of the corpus callosum	51322	WAC	ORPHA:284169
HP:0002079	Hypoplasia of the corpus callosum	51322	WAC	OMIM:616708
HP:0002079	Hypoplasia of the corpus callosum	4677	NARS1	OMIM:619091
HP:0002079	Hypoplasia of the corpus callosum	10735	STAG2	ORPHA:521258
HP:0002079	Hypoplasia of the corpus callosum	729920	CRPPA	OMIM:614643
HP:0002079	Hypoplasia of the corpus callosum	55275	VPS53	OMIM:615851
HP:0002079	Hypoplasia of the corpus callosum	80184	CEP290	OMIM:611134
HP:0002079	Hypoplasia of the corpus callosum	9928	KIF14	OMIM:617914
HP:0002079	Hypoplasia of the corpus callosum	57704	GBA2	OMIM:614409
HP:0002079	Hypoplasia of the corpus callosum	200403	VWA3B	OMIM:616948
HP:0002079	Hypoplasia of the corpus callosum	85021	REPS1	OMIM:617916
HP:0002079	Hypoplasia of the corpus callosum	85440	DOCK7	OMIM:615859
HP:0002079	Hypoplasia of the corpus callosum	85440	DOCK7	ORPHA:411986
HP:0002079	Hypoplasia of the corpus callosum	6509	SLC1A4	ORPHA:447997
HP:0002079	Hypoplasia of the corpus callosum	6509	SLC1A4	OMIM:616657
HP:0002079	Hypoplasia of the corpus callosum	9276	COPB2	OMIM:617800
HP:0002079	Hypoplasia of the corpus callosum	7407	VARS1	OMIM:617802
HP:0002079	Hypoplasia of the corpus callosum	57165	GJC2	OMIM:613206
HP:0002079	Hypoplasia of the corpus callosum	10535	RNASEH2A	ORPHA:51
HP:0002079	Hypoplasia of the corpus callosum	25939	SAMHD1	ORPHA:51
HP:0002079	Hypoplasia of the corpus callosum	79621	RNASEH2B	ORPHA:51
HP:0002079	Hypoplasia of the corpus callosum	103	ADAR	ORPHA:51
HP:0002079	Hypoplasia of the corpus callosum	11277	TREX1	ORPHA:51
HP:0002079	Hypoplasia of the corpus callosum	100147744	RNU7-1	ORPHA:51
HP:0002079	Hypoplasia of the corpus callosum	134353	LSM11	ORPHA:51
HP:0002079	Hypoplasia of the corpus callosum	64135	IFIH1	ORPHA:51
HP:0002079	Hypoplasia of the corpus callosum	5080	PAX6	OMIM:106210
HP:0002079	Hypoplasia of the corpus callosum	7490	WT1	OMIM:106210
HP:0002079	Hypoplasia of the corpus callosum	10075	HUWE1	OMIM:309590
HP:0002079	Hypoplasia of the corpus callosum	91949	COG7	OMIM:608779
HP:0002079	Hypoplasia of the corpus callosum	8243	SMC1A	OMIM:301044
HP:0002079	Hypoplasia of the corpus callosum	60529	ALX4	OMIM:613451
HP:0002079	Hypoplasia of the corpus callosum	124997	WDR81	OMIM:610185
HP:0002079	Hypoplasia of the corpus callosum	11020	IFT27	OMIM:615996
HP:0002079	Hypoplasia of the corpus callosum	2290	FOXG1	OMIM:613454
HP:0002079	Hypoplasia of the corpus callosum	79848	CSPP1	OMIM:615636
HP:0002079	Hypoplasia of the corpus callosum	65062	TMEM237	OMIM:614424
HP:0002079	Hypoplasia of the corpus callosum	23028	KDM1A	OMIM:616728
HP:0002079	Hypoplasia of the corpus callosum	23028	KDM1A	ORPHA:477993
HP:0002079	Hypoplasia of the corpus callosum	6328	SCN3A	OMIM:617938
HP:0002079	Hypoplasia of the corpus callosum	8050	PDHX	ORPHA:255182
HP:0002079	Hypoplasia of the corpus callosum	55593	OTUD5	OMIM:301056
HP:0002079	Hypoplasia of the corpus callosum	6658	SOX3	ORPHA:67045
HP:0002079	Hypoplasia of the corpus callosum	79587	CARS2	ORPHA:477774
HP:0002079	Hypoplasia of the corpus callosum	79587	CARS2	OMIM:616672
HP:0002079	Hypoplasia of the corpus callosum	5859	QARS1	OMIM:615760
HP:0002079	Hypoplasia of the corpus callosum	113179	ADAT3	ORPHA:363528
HP:0002079	Hypoplasia of the corpus callosum	80347	COASY	OMIM:615643
HP:0002079	Hypoplasia of the corpus callosum	23291	FBXW11	OMIM:618914
HP:0002079	Hypoplasia of the corpus callosum	7280	TUBB2A	OMIM:615763
HP:0002079	Hypoplasia of the corpus callosum	998	CDC42	OMIM:616737
HP:0002079	Hypoplasia of the corpus callosum	998	CDC42	ORPHA:487796
HP:0002079	Hypoplasia of the corpus callosum	50	ACO2	OMIM:614559
HP:0002079	Hypoplasia of the corpus callosum	3097	HIVEP2	OMIM:616977
HP:0002079	Hypoplasia of the corpus callosum	10982	MAPRE2	OMIM:616734
HP:0002079	Hypoplasia of the corpus callosum	51218	GLRX5	OMIM:616859
HP:0002079	Hypoplasia of the corpus callosum	5053	PAH	ORPHA:2209
HP:0002079	Hypoplasia of the corpus callosum	4131	MAP1B	OMIM:618918
HP:0002079	Hypoplasia of the corpus callosum	5925	RB1	ORPHA:1587
HP:0002079	Hypoplasia of the corpus callosum	23511	NUP188	OMIM:618804
HP:0002079	Hypoplasia of the corpus callosum	6709	SPTAN1	OMIM:613477
HP:0002079	Hypoplasia of the corpus callosum	1778	DYNC1H1	OMIM:614563
HP:0002079	Hypoplasia of the corpus callosum	3796	KIF2A	OMIM:615411
HP:0002079	Hypoplasia of the corpus callosum	2058	EPRS1	OMIM:617951
HP:0002079	Hypoplasia of the corpus callosum	27315	PGAP2	OMIM:614207
HP:0002079	Hypoplasia of the corpus callosum	80746	TSEN2	OMIM:612389
HP:0002079	Hypoplasia of the corpus callosum	80746	TSEN2	ORPHA:2524
HP:0002079	Hypoplasia of the corpus callosum	5160	PDHA1	ORPHA:79243
HP:0002079	Hypoplasia of the corpus callosum	5147	PDE6D	OMIM:615665
HP:0002079	Hypoplasia of the corpus callosum	57511	COG6	OMIM:614576
HP:0002079	Hypoplasia of the corpus callosum	2260	FGFR1	OMIM:613001
HP:0002079	Hypoplasia of the corpus callosum	23065	EMC1	OMIM:616875
HP:0002079	Hypoplasia of the corpus callosum	54664	TMEM106B	OMIM:617964
HP:0002079	Hypoplasia of the corpus callosum	128637	TBC1D20	OMIM:615663
HP:0002079	Hypoplasia of the corpus callosum	1729	DIAPH1	OMIM:616632
HP:0002079	Hypoplasia of the corpus callosum	2475	MTOR	OMIM:616638
HP:0002079	Hypoplasia of the corpus callosum	9419	CRIPT	OMIM:615789
HP:0002079	Hypoplasia of the corpus callosum	26227	PHGDH	ORPHA:79351
HP:0002079	Hypoplasia of the corpus callosum	55644	OSGEP	OMIM:617729
HP:0002079	Hypoplasia of the corpus callosum	7874	USP7	ORPHA:500055
HP:0002079	Hypoplasia of the corpus callosum	340075	ARSI	ORPHA:401815
HP:0002079	Hypoplasia of the corpus callosum	6812	STXBP1	OMIM:612164
HP:0002079	Hypoplasia of the corpus callosum	2737	GLI3	OMIM:175700
HP:0002079	Hypoplasia of the corpus callosum	25782	RAB3GAP2	OMIM:614225
HP:0002079	Hypoplasia of the corpus callosum	22931	RAB18	OMIM:614222
HP:0002079	Hypoplasia of the corpus callosum	4337	MOCS1	OMIM:252150
HP:0002079	Hypoplasia of the corpus callosum	29957	SLC25A24	OMIM:612289
HP:0002079	Hypoplasia of the corpus callosum	4329	ALDH6A1	OMIM:614105
HP:0002079	Hypoplasia of the corpus callosum	56270	WDR45B	OMIM:617977
HP:0002079	Hypoplasia of the corpus callosum	259232	NALCN	ORPHA:371364
HP:0002079	Hypoplasia of the corpus callosum	25914	RTTN	ORPHA:468631
HP:0002079	Hypoplasia of the corpus callosum	23556	PIGN	ORPHA:280633
HP:0002079	Hypoplasia of the corpus callosum	54880	BCOR	OMIM:300166
HP:0002079	Hypoplasia of the corpus callosum	5162	PDHB	ORPHA:255138
HP:0002079	Hypoplasia of the corpus callosum	122553	TRAPPC6B	OMIM:617862
HP:0002079	Hypoplasia of the corpus callosum	51124	IER3IP1	OMIM:614231
HP:0002079	Hypoplasia of the corpus callosum	283989	TSEN54	ORPHA:2524
HP:0002079	Hypoplasia of the corpus callosum	116461	TSEN15	ORPHA:2524
HP:0002079	Hypoplasia of the corpus callosum	79042	TSEN34	ORPHA:2524
HP:0002079	Hypoplasia of the corpus callosum	2893	GRIA4	OMIM:617864
HP:0002079	Hypoplasia of the corpus callosum	55704	CCDC88A	OMIM:617507
HP:0002079	Hypoplasia of the corpus callosum	54676	GTPBP2	OMIM:617988
HP:0002079	Hypoplasia of the corpus callosum	5296	PIK3R2	OMIM:603387
HP:0002079	Hypoplasia of the corpus callosum	259266	ASPM	OMIM:608716
HP:0002079	Hypoplasia of the corpus callosum	11154	AP4S1	ORPHA:280763
HP:0002079	Hypoplasia of the corpus callosum	23431	AP4E1	ORPHA:280763
HP:0002079	Hypoplasia of the corpus callosum	4841	NONO	ORPHA:466791
HP:0002079	Hypoplasia of the corpus callosum	4047	LSS	OMIM:618840
HP:0002079	Hypoplasia of the corpus callosum	5879	RAC1	OMIM:617751
HP:0002079	Hypoplasia of the corpus callosum	5879	RAC1	ORPHA:500159
HP:0002079	Hypoplasia of the corpus callosum	440	ASNS	OMIM:615574
HP:0002079	Hypoplasia of the corpus callosum	9786	KIAA0586	OMIM:616546
HP:0002079	Hypoplasia of the corpus callosum	5455	POU3F3	OMIM:618604
HP:0002079	Hypoplasia of the corpus callosum	738	VPS51	OMIM:618606
HP:0002079	Hypoplasia of the corpus callosum	5116	PCNT	ORPHA:2637
HP:0002079	Hypoplasia of the corpus callosum	2806	GOT2	OMIM:618721
HP:0002079	Hypoplasia of the corpus callosum	5430	POLR2A	OMIM:618603
HP:0002079	Hypoplasia of the corpus callosum	51663	ZFR	ORPHA:401840
HP:0002079	Hypoplasia of the corpus callosum	1468	SLC25A10	OMIM:618972
HP:0002079	Hypoplasia of the corpus callosum	1968	EIF2S3	OMIM:300148
HP:0002079	Hypoplasia of the corpus callosum	5307	PITX1	OMIM:119800
HP:0002079	Hypoplasia of the corpus callosum	51075	TMX2	OMIM:618730
HP:0002079	Hypoplasia of the corpus callosum	8884	SLC5A6	OMIM:618973
HP:0002079	Hypoplasia of the corpus callosum	7305	TYROBP	OMIM:221770
HP:0002079	Hypoplasia of the corpus callosum	55331	ACER3	OMIM:617762
HP:0002079	Hypoplasia of the corpus callosum	22978	NT5C2	OMIM:613162
HP:0002079	Hypoplasia of the corpus callosum	153241	CEP120	OMIM:617761
HP:0002079	Hypoplasia of the corpus callosum	7543	ZFX	OMIM:301118
HP:0002079	Hypoplasia of the corpus callosum	4281	MID1	ORPHA:2745
HP:0002079	Hypoplasia of the corpus callosum	10844	TUBGCP2	OMIM:618737
HP:0002079	Hypoplasia of the corpus callosum	4858	NOVA2	OMIM:618859
HP:0002079	Hypoplasia of the corpus callosum	84148	KAT8	OMIM:618974
HP:0002079	Hypoplasia of the corpus callosum	55753	OGDHL	OMIM:619701
HP:0002079	Hypoplasia of the corpus callosum	58499	ZNF462	OMIM:618619
HP:0002079	Hypoplasia of the corpus callosum	701	BUB1B	OMIM:257300
HP:0007029	Cerebral berry aneurysm	55901	THSD1	OMIM:618734
HP:0007029	Cerebral berry aneurysm	55901	THSD1	ORPHA:231160
HP:0007029	Cerebral berry aneurysm	5310	PKD1	OMIM:173900
HP:0007029	Cerebral berry aneurysm	7049	TGFBR3	ORPHA:231160
HP:0007029	Cerebral berry aneurysm	1281	COL3A1	ORPHA:231160
HP:0007029	Cerebral berry aneurysm	83854	ANGPTL6	ORPHA:231160
HP:0007029	Cerebral berry aneurysm	2022	ENG	ORPHA:231160
HP:0033161	Abnormal urinary purine level	4337	MOCS1	OMIM:252150
HP:0033161	Abnormal urinary purine level	4338	MOCS2	OMIM:252160
HP:0033161	Abnormal urinary purine level	55034	MOCOS	OMIM:603592
HP:0033161	Abnormal urinary purine level	1147	CHUK	OMIM:613630
HP:0033161	Abnormal urinary purine level	471	ATIC	OMIM:608688
HP:0033161	Abnormal urinary purine level	4860	PNP	OMIM:613179
HP:0033161	Abnormal urinary purine level	158	ADSL	OMIM:103050
HP:0033161	Abnormal urinary purine level	353	APRT	OMIM:614723
HP:0033162	Abnormal urinary pyrimidine level	1806	DPYD	OMIM:274270
HP:0033162	Abnormal urinary pyrimidine level	1806	DPYD	ORPHA:1675
HP:0033162	Abnormal urinary pyrimidine level	1807	DPYS	OMIM:222748
HP:0033162	Abnormal urinary pyrimidine level	9154	SLC28A1	OMIM:618477
HP:0033162	Abnormal urinary pyrimidine level	89874	SLC25A21	OMIM:618811
HP:0033164	Focal active colitis	1794	DOCK2	OMIM:616433
HP:0033165	Necrotizing enterocolitis	8547	FCN3	OMIM:613860
HP:0033165	Necrotizing enterocolitis	2271	FH	OMIM:606812
HP:0033165	Necrotizing enterocolitis	4629	MYH11	OMIM:619350
HP:0033165	Necrotizing enterocolitis	37	ACADVL	OMIM:201475
HP:0033165	Necrotizing enterocolitis	84992	PIGY	OMIM:616809
HP:0033165	Necrotizing enterocolitis	50619	DEF6	OMIM:619573
HP:0033166	Recurrent viral upper respiratory tract infections	4791	NFKB2	OMIM:615577
HP:0033166	Recurrent viral upper respiratory tract infections	64135	IFIH1	OMIM:619773
HP:0033166	Recurrent viral upper respiratory tract infections	2214	FCGR3A	OMIM:615707
HP:0012330	Pyelonephritis	9203	ZMYM3	OMIM:301111
HP:0012330	Pyelonephritis	9968	MED12	OMIM:301068
HP:0012330	Pyelonephritis	51726	DNAJB11	ORPHA:730
HP:0012330	Pyelonephritis	23193	GANAB	ORPHA:730
HP:0012330	Pyelonephritis	5310	PKD1	ORPHA:730
HP:0012330	Pyelonephritis	5311	PKD2	ORPHA:730
HP:0012330	Pyelonephritis	29880	ALG5	ORPHA:730
HP:0012330	Pyelonephritis	9742	IFT140	ORPHA:730
HP:0012330	Pyelonephritis	79796	ALG9	ORPHA:730
HP:0012330	Pyelonephritis	80114	BICC1	ORPHA:730
HP:0012330	Pyelonephritis	284252	KCTD1	OMIM:181270
HP:0012330	Pyelonephritis	284252	KCTD1	ORPHA:2036
HP:0012330	Pyelonephritis	4629	MYH11	OMIM:619351
HP:0012330	Pyelonephritis	7498	XDH	OMIM:278300
HP:0012330	Pyelonephritis	2006	ELN	ORPHA:90348
HP:0012330	Pyelonephritis	10516	FBLN5	ORPHA:90348
HP:0012330	Pyelonephritis	10516	FBLN5	ORPHA:90349
HP:0012330	Pyelonephritis	5832	ALDH18A1	ORPHA:90348
HP:0012330	Pyelonephritis	4052	LTBP1	ORPHA:90349
HP:0012330	Pyelonephritis	30008	EFEMP2	ORPHA:90349
HP:0012330	Pyelonephritis	3426	CFI	OMIM:610984
HP:0012330	Pyelonephritis	3209	HOXA13	OMIM:140000
HP:0012330	Pyelonephritis	54796	BNC2	ORPHA:93110
HP:0012331	Abnormal autonomic nervous system morphology	25970	SH2B1	ORPHA:261222
HP:0012331	Abnormal autonomic nervous system morphology	6535	SLC6A8	OMIM:300352
HP:0012331	Abnormal autonomic nervous system morphology	6535	SLC6A8	ORPHA:52503
HP:0012331	Abnormal autonomic nervous system morphology	10262	SF3B4	OMIM:154400
HP:0012331	Abnormal autonomic nervous system morphology	26128	KIFBP	OMIM:609460
HP:0012331	Abnormal autonomic nervous system morphology	26128	KIFBP	ORPHA:66629
HP:0012331	Abnormal autonomic nervous system morphology	23556	PIGN	ORPHA:2059
HP:0012331	Abnormal autonomic nervous system morphology	8195	MKKS	OMIM:236700
HP:0012331	Abnormal autonomic nervous system morphology	8195	MKKS	ORPHA:110
HP:0012331	Abnormal autonomic nervous system morphology	8195	MKKS	ORPHA:2473
HP:0012331	Abnormal autonomic nervous system morphology	57167	SALL4	OMIM:607323
HP:0012331	Abnormal autonomic nervous system morphology	57167	SALL4	ORPHA:959
HP:0012331	Abnormal autonomic nervous system morphology	64324	NSD1	ORPHA:821
HP:0012331	Abnormal autonomic nervous system morphology	10297	APC2	ORPHA:821
HP:0012331	Abnormal autonomic nervous system morphology	1908	EDN3	ORPHA:661
HP:0012331	Abnormal autonomic nervous system morphology	1908	EDN3	ORPHA:388
HP:0012331	Abnormal autonomic nervous system morphology	1908	EDN3	ORPHA:897
HP:0012331	Abnormal autonomic nervous system morphology	1908	EDN3	OMIM:613265
HP:0012331	Abnormal autonomic nervous system morphology	1908	EDN3	OMIM:613712
HP:0012331	Abnormal autonomic nervous system morphology	2668	GDNF	ORPHA:661
HP:0012331	Abnormal autonomic nervous system morphology	2668	GDNF	ORPHA:388
HP:0012331	Abnormal autonomic nervous system morphology	2668	GDNF	OMIM:613711
HP:0012331	Abnormal autonomic nervous system morphology	627	BDNF	ORPHA:661
HP:0012331	Abnormal autonomic nervous system morphology	10660	LBX1	ORPHA:661
HP:0012331	Abnormal autonomic nervous system morphology	283446	MYO1H	ORPHA:661
HP:0012331	Abnormal autonomic nervous system morphology	8929	PHOX2B	ORPHA:661
HP:0012331	Abnormal autonomic nervous system morphology	8929	PHOX2B	ORPHA:99803
HP:0012331	Abnormal autonomic nervous system morphology	8929	PHOX2B	ORPHA:2151
HP:0012331	Abnormal autonomic nervous system morphology	8929	PHOX2B	OMIM:209880
HP:0012331	Abnormal autonomic nervous system morphology	8929	PHOX2B	OMIM:613013
HP:0012331	Abnormal autonomic nervous system morphology	215	ABCD1	ORPHA:388
HP:0012331	Abnormal autonomic nervous system morphology	6608	SMO	ORPHA:388
HP:0012331	Abnormal autonomic nervous system morphology	1889	ECE1	ORPHA:388
HP:0012331	Abnormal autonomic nervous system morphology	1889	ECE1	OMIM:613870
HP:0012331	Abnormal autonomic nervous system morphology	6720	SREBF1	ORPHA:388
HP:0012331	Abnormal autonomic nervous system morphology	223117	SEMA3D	ORPHA:388
HP:0012331	Abnormal autonomic nervous system morphology	538	ATP7A	ORPHA:388
HP:0012331	Abnormal autonomic nervous system morphology	1910	EDNRB	ORPHA:388
HP:0012331	Abnormal autonomic nervous system morphology	1910	EDNRB	ORPHA:897
HP:0012331	Abnormal autonomic nervous system morphology	1910	EDNRB	OMIM:600501
HP:0012331	Abnormal autonomic nervous system morphology	1910	EDNRB	OMIM:277580
HP:0012331	Abnormal autonomic nervous system morphology	1910	EDNRB	OMIM:600155
HP:0012331	Abnormal autonomic nervous system morphology	1910	EDNRB	ORPHA:895
HP:0012331	Abnormal autonomic nervous system morphology	10512	SEMA3C	ORPHA:388
HP:0012331	Abnormal autonomic nervous system morphology	2064	ERBB2	ORPHA:388
HP:0012331	Abnormal autonomic nervous system morphology	2065	ERBB3	ORPHA:388
HP:0012331	Abnormal autonomic nervous system morphology	2065	ERBB3	OMIM:243180
HP:0012331	Abnormal autonomic nervous system morphology	4902	NRTN	ORPHA:388
HP:0012331	Abnormal autonomic nervous system morphology	23322	RPGRIP1L	ORPHA:220497
HP:0012331	Abnormal autonomic nervous system morphology	4867	NPHP1	ORPHA:220497
HP:0012331	Abnormal autonomic nervous system morphology	4867	NPHP1	ORPHA:110
HP:0012331	Abnormal autonomic nervous system morphology	65062	TMEM237	ORPHA:220497
HP:0012331	Abnormal autonomic nervous system morphology	65062	TMEM237	ORPHA:2318
HP:0012331	Abnormal autonomic nervous system morphology	65062	TMEM237	ORPHA:475
HP:0012331	Abnormal autonomic nervous system morphology	83479	DDX59	OMIM:174300
HP:0012331	Abnormal autonomic nervous system morphology	83479	DDX59	ORPHA:2919
HP:0012331	Abnormal autonomic nervous system morphology	72	ACTG2	ORPHA:2604
HP:0012331	Abnormal autonomic nervous system morphology	72	ACTG2	OMIM:155310
HP:0012331	Abnormal autonomic nervous system morphology	54806	AHI1	ORPHA:220493
HP:0012331	Abnormal autonomic nervous system morphology	54806	AHI1	ORPHA:475
HP:0012331	Abnormal autonomic nervous system morphology	56623	INPP5E	ORPHA:220493
HP:0012331	Abnormal autonomic nervous system morphology	56623	INPP5E	ORPHA:475
HP:0012331	Abnormal autonomic nervous system morphology	153241	CEP120	ORPHA:220493
HP:0012331	Abnormal autonomic nervous system morphology	153241	CEP120	ORPHA:475
HP:0012331	Abnormal autonomic nervous system morphology	54903	MKS1	ORPHA:220493
HP:0012331	Abnormal autonomic nervous system morphology	54903	MKS1	ORPHA:475
HP:0012331	Abnormal autonomic nervous system morphology	54903	MKS1	ORPHA:110
HP:0012331	Abnormal autonomic nervous system morphology	95681	CEP41	ORPHA:220493
HP:0012331	Abnormal autonomic nervous system morphology	95681	CEP41	ORPHA:475
HP:0012331	Abnormal autonomic nervous system morphology	1717	DHCR7	ORPHA:818
HP:0012331	Abnormal autonomic nervous system morphology	1717	DHCR7	OMIM:270400
HP:0012331	Abnormal autonomic nervous system morphology	429	ASCL1	ORPHA:99803
HP:0012331	Abnormal autonomic nervous system morphology	4286	MITF	ORPHA:897
HP:0012331	Abnormal autonomic nervous system morphology	4286	MITF	ORPHA:895
HP:0012331	Abnormal autonomic nervous system morphology	6663	SOX10	ORPHA:897
HP:0012331	Abnormal autonomic nervous system morphology	6663	SOX10	ORPHA:163746
HP:0012331	Abnormal autonomic nervous system morphology	6663	SOX10	OMIM:613266
HP:0012331	Abnormal autonomic nervous system morphology	6663	SOX10	OMIM:609136
HP:0012331	Abnormal autonomic nervous system morphology	6663	SOX10	ORPHA:895
HP:0012331	Abnormal autonomic nervous system morphology	55650	PIGV	OMIM:239300
HP:0012331	Abnormal autonomic nervous system morphology	55650	PIGV	ORPHA:247262
HP:0012331	Abnormal autonomic nervous system morphology	170302	ARX	ORPHA:452
HP:0012331	Abnormal autonomic nervous system morphology	6023	RMRP	ORPHA:175
HP:0012331	Abnormal autonomic nervous system morphology	6023	RMRP	OMIM:250250
HP:0012331	Abnormal autonomic nervous system morphology	84992	PIGY	ORPHA:247262
HP:0012331	Abnormal autonomic nervous system morphology	84720	PIGO	ORPHA:247262
HP:0012331	Abnormal autonomic nervous system morphology	84720	PIGO	OMIM:614749
HP:0012331	Abnormal autonomic nervous system morphology	93210	PGAP3	ORPHA:247262
HP:0012331	Abnormal autonomic nervous system morphology	284098	PIGW	ORPHA:247262
HP:0012331	Abnormal autonomic nervous system morphology	27315	PGAP2	ORPHA:247262
HP:0012331	Abnormal autonomic nervous system morphology	27315	PGAP2	OMIM:614207
HP:0012331	Abnormal autonomic nervous system morphology	9487	PIGL	ORPHA:247262
HP:0012331	Abnormal autonomic nervous system morphology	51360	MBTPS2	ORPHA:2273
HP:0012331	Abnormal autonomic nervous system morphology	51360	MBTPS2	OMIM:308205
HP:0012331	Abnormal autonomic nervous system morphology	51360	MBTPS2	ORPHA:85284
HP:0012331	Abnormal autonomic nervous system morphology	84100	ARL6	OMIM:209900
HP:0012331	Abnormal autonomic nervous system morphology	84100	ARL6	ORPHA:110
HP:0012331	Abnormal autonomic nervous system morphology	79140	CCDC28B	OMIM:209900
HP:0012331	Abnormal autonomic nervous system morphology	582	BBS1	OMIM:209900
HP:0012331	Abnormal autonomic nervous system morphology	582	BBS1	ORPHA:110
HP:0012331	Abnormal autonomic nervous system morphology	672	BRCA1	ORPHA:84
HP:0012331	Abnormal autonomic nervous system morphology	10459	MAD2L2	ORPHA:84
HP:0012331	Abnormal autonomic nervous system morphology	7516	XRCC2	ORPHA:84
HP:0012331	Abnormal autonomic nervous system morphology	29089	UBE2T	ORPHA:84
HP:0012331	Abnormal autonomic nervous system morphology	675	BRCA2	ORPHA:84
HP:0012331	Abnormal autonomic nervous system morphology	55120	FANCL	ORPHA:84
HP:0012331	Abnormal autonomic nervous system morphology	2177	FANCD2	ORPHA:84
HP:0012331	Abnormal autonomic nervous system morphology	2175	FANCA	ORPHA:84
HP:0012331	Abnormal autonomic nervous system morphology	2187	FANCB	ORPHA:84
HP:0012331	Abnormal autonomic nervous system morphology	2176	FANCC	ORPHA:84
HP:0012331	Abnormal autonomic nervous system morphology	2178	FANCE	ORPHA:84
HP:0012331	Abnormal autonomic nervous system morphology	2188	FANCF	ORPHA:84
HP:0012331	Abnormal autonomic nervous system morphology	2189	FANCG	ORPHA:84
HP:0012331	Abnormal autonomic nervous system morphology	5888	RAD51	ORPHA:84
HP:0012331	Abnormal autonomic nervous system morphology	5889	RAD51C	ORPHA:84
HP:0012331	Abnormal autonomic nervous system morphology	55159	RFWD3	ORPHA:84
HP:0012331	Abnormal autonomic nervous system morphology	83990	BRIP1	ORPHA:84
HP:0012331	Abnormal autonomic nervous system morphology	57697	FANCM	ORPHA:84
HP:0012331	Abnormal autonomic nervous system morphology	79728	PALB2	ORPHA:84
HP:0012331	Abnormal autonomic nervous system morphology	84464	SLX4	ORPHA:84
HP:0012331	Abnormal autonomic nervous system morphology	2072	ERCC4	ORPHA:84
HP:0012331	Abnormal autonomic nervous system morphology	55215	FANCI	ORPHA:84
HP:0012331	Abnormal autonomic nervous system morphology	546	ATRX	ORPHA:847
HP:0012331	Abnormal autonomic nervous system morphology	1312	COMT	ORPHA:567
HP:0012331	Abnormal autonomic nervous system morphology	221037	JMJD1C	ORPHA:567
HP:0012331	Abnormal autonomic nervous system morphology	2812	GP1BB	ORPHA:567
HP:0012331	Abnormal autonomic nervous system morphology	6239	RREB1	ORPHA:567
HP:0012331	Abnormal autonomic nervous system morphology	6899	TBX1	ORPHA:567
HP:0012331	Abnormal autonomic nervous system morphology	7290	HIRA	ORPHA:567
HP:0012331	Abnormal autonomic nervous system morphology	9632	SEC24C	ORPHA:567
HP:0012331	Abnormal autonomic nervous system morphology	7353	UFD1	ORPHA:567
HP:0012331	Abnormal autonomic nervous system morphology	421	ARVCF	ORPHA:567
HP:0012331	Abnormal autonomic nervous system morphology	79583	TMEM231	ORPHA:2318
HP:0012331	Abnormal autonomic nervous system morphology	51524	TMEM138	ORPHA:2318
HP:0012331	Abnormal autonomic nervous system morphology	23090	ZNF423	ORPHA:2318
HP:0012331	Abnormal autonomic nervous system morphology	80184	CEP290	ORPHA:2318
HP:0012331	Abnormal autonomic nervous system morphology	80184	CEP290	ORPHA:110
HP:0012331	Abnormal autonomic nervous system morphology	51259	TMEM216	ORPHA:2318
HP:0012331	Abnormal autonomic nervous system morphology	57545	CC2D2A	ORPHA:2318
HP:0012331	Abnormal autonomic nervous system morphology	5077	PAX3	OMIM:148820
HP:0012331	Abnormal autonomic nervous system morphology	5077	PAX3	ORPHA:894
HP:0012331	Abnormal autonomic nervous system morphology	26040	SETBP1	ORPHA:798
HP:0012331	Abnormal autonomic nervous system morphology	9851	KIAA0753	ORPHA:475
HP:0012331	Abnormal autonomic nervous system morphology	5147	PDE6D	ORPHA:475
HP:0012331	Abnormal autonomic nervous system morphology	79600	TCTN1	ORPHA:475
HP:0012331	Abnormal autonomic nervous system morphology	79848	CSPP1	ORPHA:475
HP:0012331	Abnormal autonomic nervous system morphology	8481	OFD1	ORPHA:475
HP:0012331	Abnormal autonomic nervous system morphology	51684	SUFU	ORPHA:475
HP:0012331	Abnormal autonomic nervous system morphology	65250	CPLANE1	ORPHA:475
HP:0012331	Abnormal autonomic nervous system morphology	91147	TMEM67	ORPHA:475
HP:0012331	Abnormal autonomic nervous system morphology	200894	ARL13B	ORPHA:475
HP:0012331	Abnormal autonomic nervous system morphology	9731	CEP104	ORPHA:475
HP:0012331	Abnormal autonomic nervous system morphology	219844	HYLS1	ORPHA:475
HP:0012331	Abnormal autonomic nervous system morphology	23247	KATNIP	ORPHA:475
HP:0012331	Abnormal autonomic nervous system morphology	219854	TMEM218	ORPHA:475
HP:0012331	Abnormal autonomic nervous system morphology	9786	KIAA0586	ORPHA:475
HP:0012331	Abnormal autonomic nervous system morphology	26123	TCTN3	ORPHA:475
HP:0012331	Abnormal autonomic nervous system morphology	79867	TCTN2	ORPHA:475
HP:0012331	Abnormal autonomic nervous system morphology	80776	B9D2	ORPHA:475
HP:0012331	Abnormal autonomic nervous system morphology	10464	PIBF1	ORPHA:475
HP:0012331	Abnormal autonomic nervous system morphology	80210	ARMC9	ORPHA:475
HP:0012331	Abnormal autonomic nervous system morphology	23116	TOGARAM1	ORPHA:475
HP:0012331	Abnormal autonomic nervous system morphology	25776	CBY1	ORPHA:475
HP:0012331	Abnormal autonomic nervous system morphology	27077	B9D1	ORPHA:475
HP:0012331	Abnormal autonomic nervous system morphology	403	ARL3	ORPHA:475
HP:0012331	Abnormal autonomic nervous system morphology	80173	IFT74	ORPHA:475
HP:0012331	Abnormal autonomic nervous system morphology	80173	IFT74	ORPHA:110
HP:0012331	Abnormal autonomic nervous system morphology	92482	BBIP1	ORPHA:110
HP:0012331	Abnormal autonomic nervous system morphology	11020	IFT27	ORPHA:110
HP:0012331	Abnormal autonomic nervous system morphology	49855	SCAPER	ORPHA:110
HP:0012331	Abnormal autonomic nervous system morphology	51057	WDPCP	ORPHA:110
HP:0012331	Abnormal autonomic nervous system morphology	132320	SCLT1	ORPHA:110
HP:0012331	Abnormal autonomic nervous system morphology	27241	BBS9	ORPHA:110
HP:0012331	Abnormal autonomic nervous system morphology	84984	CEP19	ORPHA:110
HP:0012331	Abnormal autonomic nervous system morphology	22954	TRIM32	ORPHA:110
HP:0012331	Abnormal autonomic nervous system morphology	79738	BBS10	ORPHA:110
HP:0012331	Abnormal autonomic nervous system morphology	123016	TTC8	ORPHA:110
HP:0012331	Abnormal autonomic nervous system morphology	26160	IFT172	ORPHA:110
HP:0012331	Abnormal autonomic nervous system morphology	583	BBS2	ORPHA:110
HP:0012331	Abnormal autonomic nervous system morphology	585	BBS4	ORPHA:110
HP:0012331	Abnormal autonomic nervous system morphology	54585	LZTFL1	ORPHA:110
HP:0012331	Abnormal autonomic nervous system morphology	55212	BBS7	ORPHA:110
HP:0012331	Abnormal autonomic nervous system morphology	166379	BBS12	ORPHA:110
HP:0012331	Abnormal autonomic nervous system morphology	10806	SDCCAG8	ORPHA:110
HP:0012331	Abnormal autonomic nervous system morphology	157657	CFAP418	ORPHA:110
HP:0012331	Abnormal autonomic nervous system morphology	129880	BBS5	ORPHA:110
HP:0012331	Abnormal autonomic nervous system morphology	54880	BCOR	OMIM:309800
HP:0012331	Abnormal autonomic nervous system morphology	8260	NAA10	OMIM:309800
HP:0012331	Abnormal autonomic nervous system morphology	6925	TCF4	ORPHA:2896
HP:0012331	Abnormal autonomic nervous system morphology	1654	DDX3X	ORPHA:3338
HP:0012331	Abnormal autonomic nervous system morphology	3845	KRAS	ORPHA:3339
HP:0012331	Abnormal autonomic nervous system morphology	6591	SNAI2	ORPHA:2884
HP:0012331	Abnormal autonomic nervous system morphology	6591	SNAI2	ORPHA:895
HP:0012331	Abnormal autonomic nervous system morphology	3815	KIT	ORPHA:2884
HP:0012331	Abnormal autonomic nervous system morphology	3815	KIT	OMIM:172800
HP:0012331	Abnormal autonomic nervous system morphology	7846	TUBA1A	ORPHA:171680
HP:0012331	Abnormal autonomic nervous system morphology	7299	TYR	ORPHA:895
HP:0012331	Abnormal autonomic nervous system morphology	4254	KITLG	ORPHA:895
HP:0012331	Abnormal autonomic nervous system morphology	2294	FOXF1	ORPHA:210122
HP:0012331	Abnormal autonomic nervous system morphology	3897	L1CAM	OMIM:304100
HP:0012331	Abnormal autonomic nervous system morphology	3897	L1CAM	ORPHA:1497
HP:0012331	Abnormal autonomic nervous system morphology	5979	RET	OMIM:142623
HP:0012331	Abnormal autonomic nervous system morphology	9839	ZEB2	OMIM:235730
HP:0012331	Abnormal autonomic nervous system morphology	7276	TTR	ORPHA:85451
HP:0012334	Extrahepatic cholestasis	672	BRCA1	ORPHA:1333
HP:0012334	Extrahepatic cholestasis	285282	RABL3	ORPHA:1333
HP:0012334	Extrahepatic cholestasis	7157	TP53	ORPHA:1333
HP:0012334	Extrahepatic cholestasis	675	BRCA2	ORPHA:1333
HP:0012334	Extrahepatic cholestasis	3845	KRAS	ORPHA:1333
HP:0012334	Extrahepatic cholestasis	1029	CDKN2A	ORPHA:1333
HP:0012334	Extrahepatic cholestasis	79728	PALB2	ORPHA:1333
HP:0012334	Extrahepatic cholestasis	4089	SMAD4	ORPHA:1333
HP:0012334	Extrahepatic cholestasis	23022	PALLD	ORPHA:1333
HP:0012334	Extrahepatic cholestasis	1027	CDKN1B	ORPHA:276152
HP:0012335	Abnormality of folate metabolism	10841	FTCD	ORPHA:51208
HP:0012335	Abnormality of folate metabolism	26834	RNU4-2	OMIM:620851
HP:0012335	Abnormality of folate metabolism	50640	PNPLA8	OMIM:251950
HP:0012335	Abnormality of folate metabolism	1719	DHFR	OMIM:613839
HP:0012335	Abnormality of folate metabolism	6711	SPTBN1	OMIM:619475
HP:0012335	Abnormality of folate metabolism	6573	SLC19A1	OMIM:620603
HP:0012335	Abnormality of folate metabolism	6948	TCN2	OMIM:275350
HP:0012335	Abnormality of folate metabolism	4548	MTR	OMIM:250940
HP:0012335	Abnormality of folate metabolism	8029	CUBN	OMIM:261100
HP:0012335	Abnormality of folate metabolism	55593	OTUD5	OMIM:301056
HP:0012335	Abnormality of folate metabolism	3117	HLA-DQA1	OMIM:212750
HP:0012335	Abnormality of folate metabolism	3119	HLA-DQB1	OMIM:212750
HP:0012335	Abnormality of folate metabolism	374879	ZNF699	OMIM:619488
HP:0012335	Abnormality of folate metabolism	81693	AMN	ORPHA:35858
HP:0012335	Abnormality of folate metabolism	113235	SLC46A1	OMIM:229050
HP:0012446	Decreased CSF 5-methyltetrahydrofolate concentration	26834	RNU4-2	OMIM:620851
HP:0012446	Decreased CSF 5-methyltetrahydrofolate concentration	50640	PNPLA8	OMIM:251950
HP:0012446	Decreased CSF 5-methyltetrahydrofolate concentration	1719	DHFR	OMIM:613839
HP:0012446	Decreased CSF 5-methyltetrahydrofolate concentration	6711	SPTBN1	OMIM:619475
HP:0012337	Abnormal homeostasis	9401	RECQL4	ORPHA:221016
HP:0012337	Abnormal homeostasis	1482	NKX2-5	ORPHA:95713
HP:0012337	Abnormal homeostasis	2304	FOXE1	ORPHA:95713
HP:0012337	Abnormal homeostasis	5172	SLC26A4	ORPHA:95713
HP:0012337	Abnormal homeostasis	7512	XPNPEP2	ORPHA:100057
HP:0012337	Abnormal homeostasis	5340	PLG	OMIM:619360
HP:0012337	Abnormal homeostasis	284	ANGPT1	OMIM:619361
HP:0012337	Abnormal homeostasis	26509	MYOF	OMIM:619366
HP:0012337	Abnormal homeostasis	64711	HS3ST6	OMIM:619367
HP:0012337	Abnormal homeostasis	3827	KNG1	OMIM:619363
HP:0012337	Abnormal homeostasis	710	SERPING1	ORPHA:100050
HP:0012337	Abnormal homeostasis	2161	F12	OMIM:610618
HP:0012337	Abnormal homeostasis	64682	ANAPC1	ORPHA:221008
HP:0012337	Abnormal homeostasis	81555	YIPF5	OMIM:619278
HP:0012337	Abnormal homeostasis	1356	CP	OMIM:604290
HP:0012337	Abnormal homeostasis	1356	CP	ORPHA:48818
HP:0012337	Abnormal homeostasis	55627	SMPD4	OMIM:618622
HP:0012337	Abnormal homeostasis	3119	HLA-DQB1	ORPHA:703
HP:0012337	Abnormal homeostasis	7068	THRB	OMIM:274300
HP:0012337	Abnormal homeostasis	256297	PTF1A	OMIM:609069
HP:0012337	Abnormal homeostasis	256297	PTF1A	OMIM:615935
HP:0012337	Abnormal homeostasis	60675	PROK2	OMIM:610628
HP:0012337	Abnormal homeostasis	2627	GATA6	OMIM:600001
HP:0012337	Abnormal homeostasis	57104	PNPLA2	ORPHA:565612
HP:0012337	Abnormal homeostasis	57104	PNPLA2	OMIM:610717
HP:0012337	Abnormal homeostasis	57104	PNPLA2	ORPHA:98908
HP:0012337	Abnormal homeostasis	63916	ELMO2	ORPHA:3019
HP:0012337	Abnormal homeostasis	169792	GLIS3	OMIM:610199
HP:0012337	Abnormal homeostasis	10560	SLC19A2	ORPHA:49827
HP:0012337	Abnormal homeostasis	10560	SLC19A2	OMIM:249270
HP:0012337	Abnormal homeostasis	150	ADRA2A	OMIM:620679
HP:0012337	Abnormal homeostasis	134218	DNAJC21	ORPHA:811
HP:0012337	Abnormal homeostasis	79631	EFL1	ORPHA:811
HP:0012337	Abnormal homeostasis	51119	SBDS	ORPHA:811
HP:0012337	Abnormal homeostasis	6638	SNRPN	ORPHA:177904
HP:0012337	Abnormal homeostasis	6638	SNRPN	ORPHA:177901
HP:0012337	Abnormal homeostasis	6638	SNRPN	ORPHA:98754
HP:0012337	Abnormal homeostasis	4692	NDN	ORPHA:177904
HP:0012337	Abnormal homeostasis	4692	NDN	ORPHA:177901
HP:0012337	Abnormal homeostasis	4692	NDN	ORPHA:98754
HP:0012337	Abnormal homeostasis	84196	USP48	ORPHA:96253
HP:0012337	Abnormal homeostasis	64072	CDH23	ORPHA:96253
HP:0012337	Abnormal homeostasis	546	ATRX	ORPHA:96253
HP:0012337	Abnormal homeostasis	2332	FMR1	ORPHA:449291
HP:0012337	Abnormal homeostasis	3376	IARS1	ORPHA:541423
HP:0012337	Abnormal homeostasis	84133	ZNRF3	ORPHA:1501
HP:0012337	Abnormal homeostasis	1499	CTNNB1	ORPHA:1501
HP:0012337	Abnormal homeostasis	1029	CDKN2A	ORPHA:1501
HP:0012337	Abnormal homeostasis	1029	CDKN2A	ORPHA:1333
HP:0012337	Abnormal homeostasis	7015	TERT	ORPHA:1501
HP:0012337	Abnormal homeostasis	7015	TERT	ORPHA:1775
HP:0012337	Abnormal homeostasis	7274	TTPA	ORPHA:96
HP:0012337	Abnormal homeostasis	8091	HMGA2	ORPHA:94063
HP:0012337	Abnormal homeostasis	23592	LEMD3	ORPHA:94063
HP:0012337	Abnormal homeostasis	51651	PTRH2	ORPHA:456312
HP:0012337	Abnormal homeostasis	51651	PTRH2	OMIM:616263
HP:0012337	Abnormal homeostasis	2992	GYG1	ORPHA:263297
HP:0012337	Abnormal homeostasis	285282	RABL3	ORPHA:1333
HP:0012337	Abnormal homeostasis	3845	KRAS	ORPHA:1333
HP:0012337	Abnormal homeostasis	79728	PALB2	ORPHA:1333
HP:0012337	Abnormal homeostasis	23022	PALLD	ORPHA:1333
HP:0012337	Abnormal homeostasis	5144	PDE4D	OMIM:614613
HP:0012337	Abnormal homeostasis	57817	HAMP	ORPHA:79230
HP:0012337	Abnormal homeostasis	148738	HJV	ORPHA:79230
HP:0012337	Abnormal homeostasis	2697	GJA1	ORPHA:317
HP:0012337	Abnormal homeostasis	2707	GJB3	ORPHA:317
HP:0012337	Abnormal homeostasis	2531	KDSR	ORPHA:317
HP:0012337	Abnormal homeostasis	127534	GJB4	ORPHA:317
HP:0012337	Abnormal homeostasis	2395	FXN	ORPHA:95
HP:0012337	Abnormal homeostasis	2395	FXN	OMIM:229300
HP:0012337	Abnormal homeostasis	165	AEBP1	ORPHA:536532
HP:0012337	Abnormal homeostasis	55503	TRPV6	ORPHA:676
HP:0012337	Abnormal homeostasis	846	CASR	ORPHA:676
HP:0012337	Abnormal homeostasis	1357	CPA1	ORPHA:676
HP:0012337	Abnormal homeostasis	3975	LHX1	ORPHA:261265
HP:0012337	Abnormal homeostasis	5566	PRKACA	OMIM:615830
HP:0012337	Abnormal homeostasis	222546	RFX6	OMIM:615710
HP:0012337	Abnormal homeostasis	5189	PEX1	ORPHA:3220
HP:0012337	Abnormal homeostasis	493856	CISD2	ORPHA:3463
HP:0012337	Abnormal homeostasis	493856	CISD2	OMIM:604928
HP:0012337	Abnormal homeostasis	79759	ZNF668	OMIM:620194
HP:0012337	Abnormal homeostasis	5244	ABCB4	ORPHA:69663
HP:0012337	Abnormal homeostasis	2642	GCGR	ORPHA:438274
HP:0012337	Abnormal homeostasis	51124	IER3IP1	OMIM:614231
HP:0012337	Abnormal homeostasis	84919	PPP1R15B	ORPHA:391408
HP:0012337	Abnormal homeostasis	4205	MEF2A	OMIM:608320
HP:0012337	Abnormal homeostasis	4854	NOTCH3	ORPHA:136
HP:0012337	Abnormal homeostasis	2625	GATA3	ORPHA:2237
HP:0012337	Abnormal homeostasis	5879	RAC1	ORPHA:500159
HP:0012337	Abnormal homeostasis	654	BMP6	ORPHA:465508
HP:0012337	Abnormal homeostasis	1968	EIF2S3	ORPHA:85282
HP:0012337	Abnormal homeostasis	2303	FOXC2	ORPHA:33001
HP:0012337	Abnormal homeostasis	4693	NDP	ORPHA:649
HP:0012337	Abnormal homeostasis	3514	IGKC	ORPHA:183675
HP:0012337	Abnormal homeostasis	3501	IGHG2	ORPHA:183675
HP:0012337	Abnormal homeostasis	5611	DNAJC3	ORPHA:445062
HP:0012337	Abnormal homeostasis	80067	DCAF17	OMIM:241080
HP:0012337	Abnormal homeostasis	23503	ZFYVE26	ORPHA:100996
HP:0012337	Abnormal homeostasis	80169	CTC1	ORPHA:1775
HP:0012337	Abnormal homeostasis	26277	TINF2	ORPHA:1775
HP:0012337	Abnormal homeostasis	55651	NHP2	ORPHA:1775
HP:0012337	Abnormal homeostasis	55135	WRAP53	ORPHA:1775
HP:0012337	Abnormal homeostasis	51750	RTEL1	ORPHA:1775
HP:0012337	Abnormal homeostasis	7012	TERC	ORPHA:1775
HP:0012337	Abnormal homeostasis	55505	NOP10	ORPHA:1775
HP:0012337	Abnormal homeostasis	5073	PARN	ORPHA:1775
HP:0012337	Abnormal homeostasis	1736	DKC1	ORPHA:1775
HP:0012337	Abnormal homeostasis	7298	TYMS	ORPHA:1775
HP:0012337	Abnormal homeostasis	25886	POC1A	OMIM:614813
HP:0012337	Abnormal homeostasis	3480	IGF1R	OMIM:270450
HP:0012337	Abnormal homeostasis	2746	GLUD1	ORPHA:35878
HP:0012337	Abnormal homeostasis	2746	GLUD1	OMIM:606762
HP:0012337	Abnormal homeostasis	389692	MAFA	OMIM:147630
HP:0012337	Abnormal homeostasis	93587	TRMT10A	OMIM:616033
HP:0012337	Abnormal homeostasis	8085	KMT2D	ORPHA:2322
HP:0012337	Abnormal homeostasis	7403	KDM6A	ORPHA:2322
HP:0012337	Abnormal homeostasis	7351	UCP2	ORPHA:276556
HP:0012337	Abnormal homeostasis	10367	MICU1	ORPHA:401768
HP:0012337	Abnormal homeostasis	63924	CIDEC	ORPHA:435651
HP:0012337	Abnormal homeostasis	7840	ALMS1	ORPHA:64
HP:0012337	Abnormal homeostasis	7840	ALMS1	OMIM:203800
HP:0012337	Abnormal homeostasis	3643	INSR	OMIM:262190
HP:0012337	Abnormal homeostasis	3643	INSR	ORPHA:508
HP:0012337	Abnormal homeostasis	3643	INSR	OMIM:246200
HP:0012337	Abnormal homeostasis	10269	ZMPSTE24	OMIM:608612
HP:0012337	Abnormal homeostasis	92840	REEP6	ORPHA:791
HP:0012337	Abnormal homeostasis	6094	ROM1	ORPHA:791
HP:0012337	Abnormal homeostasis	6017	RLBP1	ORPHA:791
HP:0012337	Abnormal homeostasis	7401	CLRN1	ORPHA:791
HP:0012337	Abnormal homeostasis	24	ABCA4	ORPHA:791
HP:0012337	Abnormal homeostasis	130557	ZNF513	ORPHA:791
HP:0012337	Abnormal homeostasis	582	BBS1	ORPHA:791
HP:0012337	Abnormal homeostasis	92211	CDHR1	ORPHA:791
HP:0012337	Abnormal homeostasis	23568	ARL2BP	ORPHA:791
HP:0012337	Abnormal homeostasis	6121	RPE65	ORPHA:791
HP:0012337	Abnormal homeostasis	54806	AHI1	ORPHA:791
HP:0012337	Abnormal homeostasis	6101	RP1	ORPHA:791
HP:0012337	Abnormal homeostasis	3419	IDH3A	ORPHA:791
HP:0012337	Abnormal homeostasis	4751	NEK2	ORPHA:791
HP:0012337	Abnormal homeostasis	346007	EYS	ORPHA:791
HP:0012337	Abnormal homeostasis	8100	IFT88	ORPHA:791
HP:0012337	Abnormal homeostasis	23020	SNRNP200	ORPHA:791
HP:0012337	Abnormal homeostasis	762	CA4	ORPHA:791
HP:0012337	Abnormal homeostasis	138050	HGSNAT	ORPHA:791
HP:0012337	Abnormal homeostasis	196	AHR	ORPHA:791
HP:0012337	Abnormal homeostasis	3614	IMPDH1	ORPHA:791
HP:0012337	Abnormal homeostasis	123016	TTC8	ORPHA:791
HP:0012337	Abnormal homeostasis	6103	RPGR	ORPHA:791
HP:0012337	Abnormal homeostasis	1406	CRX	ORPHA:791
HP:0012337	Abnormal homeostasis	5148	PDE6G	ORPHA:791
HP:0012337	Abnormal homeostasis	26160	IFT172	ORPHA:791
HP:0012337	Abnormal homeostasis	26121	PRPF31	ORPHA:791
HP:0012337	Abnormal homeostasis	583	BBS2	ORPHA:791
HP:0012337	Abnormal homeostasis	4117	MAK	ORPHA:791
HP:0012337	Abnormal homeostasis	25794	FSCN2	ORPHA:791
HP:0012337	Abnormal homeostasis	375298	CERKL	ORPHA:791
HP:0012337	Abnormal homeostasis	3420	IDH3B	ORPHA:791
HP:0012337	Abnormal homeostasis	57670	KIAA1549	ORPHA:791
HP:0012337	Abnormal homeostasis	7275	TUB	ORPHA:791
HP:0012337	Abnormal homeostasis	24148	PRPF6	ORPHA:791
HP:0012337	Abnormal homeostasis	23418	CRB1	ORPHA:791
HP:0012337	Abnormal homeostasis	10461	MERTK	ORPHA:791
HP:0012337	Abnormal homeostasis	57709	SLC7A14	ORPHA:791
HP:0012337	Abnormal homeostasis	768206	PRCD	ORPHA:791
HP:0012337	Abnormal homeostasis	7399	USH2A	ORPHA:791
HP:0012337	Abnormal homeostasis	23370	ARHGEF18	ORPHA:791
HP:0012337	Abnormal homeostasis	5949	RBP3	ORPHA:791
HP:0012337	Abnormal homeostasis	6010	RHO	ORPHA:791
HP:0012337	Abnormal homeostasis	6100	RP9	ORPHA:791
HP:0012337	Abnormal homeostasis	10002	NR2E3	ORPHA:791
HP:0012337	Abnormal homeostasis	9227	LRAT	ORPHA:791
HP:0012337	Abnormal homeostasis	84140	FAM161A	ORPHA:791
HP:0012337	Abnormal homeostasis	55812	SPATA7	ORPHA:791
HP:0012337	Abnormal homeostasis	55624	POMGNT1	ORPHA:791
HP:0012337	Abnormal homeostasis	79797	ZNF408	ORPHA:791
HP:0012337	Abnormal homeostasis	5145	PDE6A	ORPHA:791
HP:0012337	Abnormal homeostasis	10210	TOPORS	ORPHA:791
HP:0012337	Abnormal homeostasis	8842	PROM1	ORPHA:791
HP:0012337	Abnormal homeostasis	9128	PRPF4	ORPHA:791
HP:0012337	Abnormal homeostasis	145226	RDH12	ORPHA:791
HP:0012337	Abnormal homeostasis	50939	IMPG2	ORPHA:791
HP:0012337	Abnormal homeostasis	57545	CC2D2A	ORPHA:791
HP:0012337	Abnormal homeostasis	8481	OFD1	ORPHA:791
HP:0012337	Abnormal homeostasis	49855	SCAPER	ORPHA:791
HP:0012337	Abnormal homeostasis	9742	IFT140	ORPHA:791
HP:0012337	Abnormal homeostasis	2979	GUCA1B	ORPHA:791
HP:0012337	Abnormal homeostasis	1259	CNGA1	ORPHA:791
HP:0012337	Abnormal homeostasis	1258	CNGB1	ORPHA:791
HP:0012337	Abnormal homeostasis	60509	AGBL5	ORPHA:791
HP:0012337	Abnormal homeostasis	5961	PRPH2	ORPHA:791
HP:0012337	Abnormal homeostasis	388939	PCARE	ORPHA:791
HP:0012337	Abnormal homeostasis	7439	BEST1	ORPHA:791
HP:0012337	Abnormal homeostasis	9785	DHX38	ORPHA:791
HP:0012337	Abnormal homeostasis	7287	TULP1	ORPHA:791
HP:0012337	Abnormal homeostasis	5995	RGR	ORPHA:791
HP:0012337	Abnormal homeostasis	9129	PRPF3	ORPHA:791
HP:0012337	Abnormal homeostasis	3617	IMPG1	ORPHA:791
HP:0012337	Abnormal homeostasis	94137	RP1L1	ORPHA:791
HP:0012337	Abnormal homeostasis	5158	PDE6B	ORPHA:791
HP:0012337	Abnormal homeostasis	6102	RP2	ORPHA:791
HP:0012337	Abnormal homeostasis	55857	KIZ	ORPHA:791
HP:0012337	Abnormal homeostasis	64218	SEMA4A	ORPHA:791
HP:0012337	Abnormal homeostasis	4901	NRL	ORPHA:791
HP:0012337	Abnormal homeostasis	157657	CFAP418	ORPHA:791
HP:0012337	Abnormal homeostasis	10594	PRPF8	ORPHA:791
HP:0012337	Abnormal homeostasis	84100	ARL6	ORPHA:791
HP:0012337	Abnormal homeostasis	6295	SAG	ORPHA:791
HP:0012337	Abnormal homeostasis	79947	DHDDS	ORPHA:791
HP:0012337	Abnormal homeostasis	6492	SIM1	ORPHA:369873
HP:0012337	Abnormal homeostasis	26580	BSCL2	OMIM:269700
HP:0012337	Abnormal homeostasis	26580	BSCL2	ORPHA:363400
HP:0012337	Abnormal homeostasis	26580	BSCL2	ORPHA:528
HP:0012337	Abnormal homeostasis	5122	PCSK1	ORPHA:71528
HP:0012337	Abnormal homeostasis	6566	SLC16A1	OMIM:610021
HP:0012337	Abnormal homeostasis	4160	MC4R	ORPHA:71529
HP:0012337	Abnormal homeostasis	4160	MC4R	OMIM:618406
HP:0012337	Abnormal homeostasis	5443	POMC	ORPHA:71526
HP:0012337	Abnormal homeostasis	4221	MEN1	ORPHA:97279
HP:0012337	Abnormal homeostasis	7528	YY1	ORPHA:97279
HP:0012337	Abnormal homeostasis	23137	SMC5	OMIM:620185
HP:0012337	Abnormal homeostasis	2099	ESR1	ORPHA:785
HP:0012337	Abnormal homeostasis	2099	ESR1	OMIM:615363
HP:0012337	Abnormal homeostasis	5346	PLIN1	ORPHA:280356
HP:0012337	Abnormal homeostasis	5468	PPARG	OMIM:604367
HP:0012337	Abnormal homeostasis	5468	PPARG	ORPHA:528
HP:0012337	Abnormal homeostasis	25970	SH2B1	ORPHA:329249
HP:0012337	Abnormal homeostasis	3630	INS	OMIM:616214
HP:0012337	Abnormal homeostasis	1363	CPE	OMIM:619326
HP:0012337	Abnormal homeostasis	3952	LEP	ORPHA:66628
HP:0012337	Abnormal homeostasis	4000	LMNA	OMIM:248370
HP:0012337	Abnormal homeostasis	4000	LMNA	ORPHA:79084
HP:0012337	Abnormal homeostasis	4000	LMNA	OMIM:151660
HP:0012337	Abnormal homeostasis	4000	LMNA	ORPHA:79474
HP:0012337	Abnormal homeostasis	6833	ABCC8	ORPHA:276575
HP:0012337	Abnormal homeostasis	3767	KCNJ11	ORPHA:276580
HP:0012337	Abnormal homeostasis	11145	PLAAT3	OMIM:620683
HP:0012337	Abnormal homeostasis	10555	AGPAT2	ORPHA:528
HP:0012337	Abnormal homeostasis	10555	AGPAT2	OMIM:608594
HP:0012337	Abnormal homeostasis	284119	CAVIN1	ORPHA:528
HP:0012337	Abnormal homeostasis	284119	CAVIN1	OMIM:613327
HP:0012337	Abnormal homeostasis	2353	FOS	ORPHA:528
HP:0012337	Abnormal homeostasis	857	CAV1	ORPHA:528
HP:0012337	Abnormal homeostasis	5130	PCYT1A	OMIM:620680
HP:0012337	Abnormal homeostasis	3172	HNF4A	ORPHA:263455
HP:0012337	Abnormal homeostasis	6927	HNF1A	ORPHA:324575
HP:0012337	Abnormal homeostasis	109	ADCY3	OMIM:617885
HP:0012337	Abnormal homeostasis	3953	LEPR	ORPHA:179494
HP:0012337	Abnormal homeostasis	55186	SLC25A36	OMIM:620211
HP:0012337	Abnormal homeostasis	2584	GALK1	ORPHA:79237
HP:0012337	Abnormal homeostasis	3479	IGF1	ORPHA:73272
HP:0012337	Abnormal homeostasis	92482	BBIP1	ORPHA:110
HP:0012337	Abnormal homeostasis	80184	CEP290	ORPHA:110
HP:0012337	Abnormal homeostasis	11020	IFT27	ORPHA:110
HP:0012337	Abnormal homeostasis	4867	NPHP1	ORPHA:110
HP:0012337	Abnormal homeostasis	51057	WDPCP	ORPHA:110
HP:0012337	Abnormal homeostasis	132320	SCLT1	ORPHA:110
HP:0012337	Abnormal homeostasis	27241	BBS9	ORPHA:110
HP:0012337	Abnormal homeostasis	84984	CEP19	ORPHA:110
HP:0012337	Abnormal homeostasis	84984	CEP19	OMIM:615703
HP:0012337	Abnormal homeostasis	22954	TRIM32	ORPHA:110
HP:0012337	Abnormal homeostasis	54903	MKS1	ORPHA:110
HP:0012337	Abnormal homeostasis	79738	BBS10	ORPHA:110
HP:0012337	Abnormal homeostasis	585	BBS4	ORPHA:110
HP:0012337	Abnormal homeostasis	8195	MKKS	ORPHA:110
HP:0012337	Abnormal homeostasis	54585	LZTFL1	ORPHA:110
HP:0012337	Abnormal homeostasis	55212	BBS7	ORPHA:110
HP:0012337	Abnormal homeostasis	166379	BBS12	ORPHA:110
HP:0012337	Abnormal homeostasis	10806	SDCCAG8	ORPHA:110
HP:0012337	Abnormal homeostasis	129880	BBS5	ORPHA:110
HP:0012337	Abnormal homeostasis	80173	IFT74	ORPHA:110
HP:0012337	Abnormal homeostasis	286053	NSMCE2	OMIM:617253
HP:0012337	Abnormal homeostasis	3991	LIPE	ORPHA:435660
HP:0012337	Abnormal homeostasis	3991	LIPE	OMIM:615980
HP:0012337	Abnormal homeostasis	3290	HSD11B1	OMIM:614662
HP:0012337	Abnormal homeostasis	7486	WRN	ORPHA:902
HP:0012337	Abnormal homeostasis	2887	GRB10	ORPHA:96182
HP:0012337	Abnormal homeostasis	221496	LEMD2	OMIM:619322
HP:0012337	Abnormal homeostasis	6934	TCF7L2	OMIM:125853
HP:0012337	Abnormal homeostasis	3990	LIPC	OMIM:125853
HP:0012337	Abnormal homeostasis	4760	NEUROD1	OMIM:125853
HP:0012337	Abnormal homeostasis	5506	PPP1R3A	OMIM:125853
HP:0012337	Abnormal homeostasis	169026	SLC30A8	OMIM:125853
HP:0012337	Abnormal homeostasis	2820	GPD2	OMIM:125853
HP:0012337	Abnormal homeostasis	6928	HNF1B	OMIM:125853
HP:0012337	Abnormal homeostasis	5770	PTPN1	OMIM:125853
HP:0012337	Abnormal homeostasis	8660	IRS2	OMIM:125853
HP:0012337	Abnormal homeostasis	3159	HMGA1	OMIM:125853
HP:0012337	Abnormal homeostasis	3667	IRS1	OMIM:125853
HP:0012337	Abnormal homeostasis	9479	MAPK8IP1	OMIM:125853
HP:0012337	Abnormal homeostasis	208	AKT2	OMIM:125853
HP:0012337	Abnormal homeostasis	208	AKT2	ORPHA:79085
HP:0012337	Abnormal homeostasis	4544	MTNR1B	OMIM:125853
HP:0012337	Abnormal homeostasis	56729	RETN	OMIM:125853
HP:0012337	Abnormal homeostasis	7466	WFS1	OMIM:125853
HP:0012337	Abnormal homeostasis	3651	PDX1	OMIM:125853
HP:0012337	Abnormal homeostasis	2645	GCK	OMIM:125853
HP:0012337	Abnormal homeostasis	10644	IGF2BP2	OMIM:125853
HP:0012337	Abnormal homeostasis	23187	PHLDB1	OMIM:620639
HP:0012337	Abnormal homeostasis	6524	SLC5A2	ORPHA:69076
HP:0012337	Abnormal homeostasis	7518	XRCC4	OMIM:616541
HP:0012337	Abnormal homeostasis	3483	IGFALS	ORPHA:140941
HP:0012337	Abnormal homeostasis	9927	MFN2	ORPHA:2398
HP:0012337	Abnormal homeostasis	79140	CCDC28B	OMIM:209900
HP:0012337	Abnormal homeostasis	84823	LMNB2	ORPHA:79087
HP:0012337	Abnormal homeostasis	83550	GPR101	ORPHA:963
HP:0012337	Abnormal homeostasis	641	BLM	ORPHA:125
HP:0012337	Abnormal homeostasis	5424	POLD1	OMIM:615381
HP:0012337	Abnormal homeostasis	1188	CLCNKB	ORPHA:358
HP:0012337	Abnormal homeostasis	6559	SLC12A3	ORPHA:358
HP:0012337	Abnormal homeostasis	1588	CYP19A1	ORPHA:91
HP:0012337	Abnormal homeostasis	23019	CNOT1	ORPHA:556955
HP:0012337	Abnormal homeostasis	10486	CAP2	ORPHA:154
HP:0012337	Abnormal homeostasis	7716	VEZF1	ORPHA:154
HP:0012337	Abnormal homeostasis	10060	ABCC9	ORPHA:154
HP:0012337	Abnormal homeostasis	7168	TPM1	ORPHA:154
HP:0012337	Abnormal homeostasis	27063	ANKRD1	ORPHA:154
HP:0012337	Abnormal homeostasis	1410	CRYAB	ORPHA:154
HP:0012337	Abnormal homeostasis	439	GET3	ORPHA:154
HP:0012337	Abnormal homeostasis	7273	TTN	ORPHA:154
HP:0012337	Abnormal homeostasis	5350	PLN	ORPHA:154
HP:0012337	Abnormal homeostasis	5664	PSEN2	ORPHA:154
HP:0012337	Abnormal homeostasis	9529	BAG5	ORPHA:154
HP:0012337	Abnormal homeostasis	4607	MYBPC3	ORPHA:154
HP:0012337	Abnormal homeostasis	11155	LDB3	ORPHA:154
HP:0012337	Abnormal homeostasis	2274	FHL2	ORPHA:154
HP:0012337	Abnormal homeostasis	1756	DMD	ORPHA:154
HP:0012337	Abnormal homeostasis	84665	MYPN	ORPHA:154
HP:0012337	Abnormal homeostasis	1674	DES	ORPHA:154
HP:0012337	Abnormal homeostasis	442721	LMOD2	ORPHA:154
HP:0012337	Abnormal homeostasis	8557	TCAP	ORPHA:154
HP:0012337	Abnormal homeostasis	57158	JPH2	ORPHA:154
HP:0012337	Abnormal homeostasis	9015	TAF1A	ORPHA:154
HP:0012337	Abnormal homeostasis	5663	PSEN1	ORPHA:154
HP:0012337	Abnormal homeostasis	7112	TMPO	ORPHA:154
HP:0012337	Abnormal homeostasis	9464	HAND2	ORPHA:154
HP:0012337	Abnormal homeostasis	4625	MYH7	ORPHA:154
HP:0012337	Abnormal homeostasis	88	ACTN2	ORPHA:154
HP:0012337	Abnormal homeostasis	7414	VCL	ORPHA:154
HP:0012337	Abnormal homeostasis	1832	DSP	ORPHA:154
HP:0012337	Abnormal homeostasis	1832	DSP	OMIM:605676
HP:0012337	Abnormal homeostasis	70	ACTC1	ORPHA:154
HP:0012337	Abnormal homeostasis	6123	RPL3L	ORPHA:154
HP:0012337	Abnormal homeostasis	8048	CSRP3	ORPHA:154
HP:0012337	Abnormal homeostasis	7139	TNNT2	ORPHA:154
HP:0012337	Abnormal homeostasis	1829	DSG2	ORPHA:154
HP:0012337	Abnormal homeostasis	3910	LAMA4	ORPHA:154
HP:0012337	Abnormal homeostasis	63976	PRDM16	ORPHA:154
HP:0012337	Abnormal homeostasis	10587	TXNRD2	ORPHA:154
HP:0012337	Abnormal homeostasis	9531	BAG3	ORPHA:154
HP:0012337	Abnormal homeostasis	91624	NEXN	ORPHA:154
HP:0012337	Abnormal homeostasis	79717	PPCS	ORPHA:154
HP:0012337	Abnormal homeostasis	4624	MYH6	ORPHA:154
HP:0012337	Abnormal homeostasis	282996	RBM20	ORPHA:154
HP:0012337	Abnormal homeostasis	7137	TNNI3	ORPHA:154
HP:0012337	Abnormal homeostasis	6901	TAFAZZIN	ORPHA:154
HP:0012337	Abnormal homeostasis	22845	DOLK	ORPHA:154
HP:0012337	Abnormal homeostasis	5894	RAF1	ORPHA:154
HP:0012337	Abnormal homeostasis	57798	GATAD1	ORPHA:154
HP:0012337	Abnormal homeostasis	7134	TNNC1	ORPHA:154
HP:0012337	Abnormal homeostasis	6444	SGCD	ORPHA:154
HP:0012337	Abnormal homeostasis	2218	FKTN	ORPHA:154
HP:0012337	Abnormal homeostasis	2235	FECH	OMIM:177000
HP:0012337	Abnormal homeostasis	2235	FECH	ORPHA:79278
HP:0012337	Abnormal homeostasis	5087	PBX1	ORPHA:97362
HP:0012337	Abnormal homeostasis	9780	PIEZO1	OMIM:616843
HP:0012337	Abnormal homeostasis	9780	PIEZO1	ORPHA:3202
HP:0012337	Abnormal homeostasis	2632	GBE1	OMIM:232500
HP:0012337	Abnormal homeostasis	657	BMPR1A	ORPHA:329971
HP:0012337	Abnormal homeostasis	4089	SMAD4	ORPHA:329971
HP:0012337	Abnormal homeostasis	2022	ENG	ORPHA:329971
HP:0012337	Abnormal homeostasis	2186	BPTF	OMIM:148000
HP:0012337	Abnormal homeostasis	84320	ACBD6	OMIM:620785
HP:0012337	Abnormal homeostasis	79650	USB1	OMIM:604173
HP:0012337	Abnormal homeostasis	3909	LAMA3	ORPHA:79404
HP:0012337	Abnormal homeostasis	3918	LAMC2	ORPHA:79404
HP:0012337	Abnormal homeostasis	3914	LAMB3	ORPHA:79404
HP:0012337	Abnormal homeostasis	56945	MRPS22	OMIM:611719
HP:0012337	Abnormal homeostasis	6888	TALDO1	ORPHA:101028
HP:0012337	Abnormal homeostasis	2050	EPHB4	OMIM:617300
HP:0012337	Abnormal homeostasis	84162	BLTP1	OMIM:617822
HP:0012337	Abnormal homeostasis	2733	GLE1	OMIM:253310
HP:0012337	Abnormal homeostasis	3849	KRT2	ORPHA:455
HP:0012337	Abnormal homeostasis	182	JAG1	OMIM:619574
HP:0012337	Abnormal homeostasis	55109	AGGF1	ORPHA:90308
HP:0012337	Abnormal homeostasis	5290	PIK3CA	ORPHA:90308
HP:0012337	Abnormal homeostasis	3913	LAMB2	OMIM:609049
HP:0012337	Abnormal homeostasis	3248	HPGD	ORPHA:2796
HP:0012337	Abnormal homeostasis	6578	SLCO2A1	ORPHA:2796
HP:0012337	Abnormal homeostasis	7389	UROD	ORPHA:95159
HP:0012337	Abnormal homeostasis	197131	UBR1	ORPHA:2315
HP:0012337	Abnormal homeostasis	79087	ALG12	OMIM:607143
HP:0012337	Abnormal homeostasis	79087	ALG12	ORPHA:79324
HP:0012337	Abnormal homeostasis	56984	PSMG2	OMIM:619183
HP:0012337	Abnormal homeostasis	7809	BSND	OMIM:602522
HP:0012337	Abnormal homeostasis	5277	PIGA	OMIM:300868
HP:0012337	Abnormal homeostasis	3860	KRT13	OMIM:615785
HP:0012337	Abnormal homeostasis	4598	MVK	OMIM:610377
HP:0012337	Abnormal homeostasis	51021	MRPS16	OMIM:610498
HP:0012337	Abnormal homeostasis	950	SCARB2	OMIM:254900
HP:0012337	Abnormal homeostasis	79053	ALG8	OMIM:608104
HP:0012337	Abnormal homeostasis	79053	ALG8	ORPHA:79325
HP:0012337	Abnormal homeostasis	55644	OSGEP	OMIM:617729
HP:0012337	Abnormal homeostasis	4758	NEU1	ORPHA:93400
HP:0012337	Abnormal homeostasis	2243	FGA	OMIM:105200
HP:0012337	Abnormal homeostasis	5337	PLD1	OMIM:212093
HP:0012337	Abnormal homeostasis	1187	CLCNKA	OMIM:613090
HP:0012337	Abnormal homeostasis	1836	SLC26A2	OMIM:600972
HP:0012337	Abnormal homeostasis	8879	SGPL1	OMIM:617575
HP:0012337	Abnormal homeostasis	213	ALB	OMIM:616000
HP:0012337	Abnormal homeostasis	213	ALB	ORPHA:86816
HP:0012337	Abnormal homeostasis	51002	TPRKB	OMIM:617731
HP:0012337	Abnormal homeostasis	2776	GNAQ	ORPHA:624
HP:0012337	Abnormal homeostasis	3636	INPPL1	OMIM:258480
HP:0012337	Abnormal homeostasis	100147744	RNU7-1	OMIM:619487
HP:0012337	Abnormal homeostasis	2934	GSN	ORPHA:85448
HP:0012337	Abnormal homeostasis	57169	ZNFX1	OMIM:619644
HP:0012337	Abnormal homeostasis	9326	ZNHIT3	OMIM:260565
HP:0012337	Abnormal homeostasis	3832	KIF11	ORPHA:2526
HP:0012337	Abnormal homeostasis	55704	CCDC88A	OMIM:617507
HP:0012337	Abnormal homeostasis	7841	MOGS	ORPHA:79330
HP:0012337	Abnormal homeostasis	540	ATP7B	OMIM:277900
HP:0012337	Abnormal homeostasis	2683	B4GALT1	ORPHA:79332
HP:0012337	Abnormal homeostasis	2065	ERBB3	OMIM:607598
HP:0012337	Abnormal homeostasis	4846	NOS3	OMIM:189800
HP:0012337	Abnormal homeostasis	4351	MPI	ORPHA:79319
HP:0012337	Abnormal homeostasis	4351	MPI	OMIM:602579
HP:0012337	Abnormal homeostasis	348	APOE	ORPHA:158029
HP:0012337	Abnormal homeostasis	79989	IFT56	OMIM:619534
HP:0012337	Abnormal homeostasis	738	VPS51	OMIM:618606
HP:0012337	Abnormal homeostasis	1280	COL2A1	ORPHA:93296
HP:0012337	Abnormal homeostasis	1280	COL2A1	OMIM:200610
HP:0012337	Abnormal homeostasis	3783	KCNN4	ORPHA:3202
HP:0012337	Abnormal homeostasis	10682	EBP	OMIM:302960
HP:0012337	Abnormal homeostasis	1604	CD55	OMIM:226300
HP:0012337	Abnormal homeostasis	29968	PSAT1	OMIM:616038
HP:0012337	Abnormal homeostasis	57107	PDSS2	OMIM:614652
HP:0012337	Abnormal homeostasis	203068	TUBB	ORPHA:2505
HP:0012337	Abnormal homeostasis	10982	MAPRE2	ORPHA:2505
HP:0012337	Abnormal homeostasis	567	B2M	OMIM:620659
HP:0012337	Abnormal homeostasis	7390	UROS	ORPHA:79277
HP:0012337	Abnormal homeostasis	2623	GATA1	ORPHA:79277
HP:0012337	Abnormal homeostasis	6935	ZEB1	ORPHA:98974
HP:0012337	Abnormal homeostasis	123624	AGBL1	ORPHA:98974
HP:0012337	Abnormal homeostasis	83959	SLC4A11	ORPHA:98974
HP:0012337	Abnormal homeostasis	1296	COL8A2	ORPHA:98974
HP:0012337	Abnormal homeostasis	64132	XYLT2	OMIM:605822
HP:0012337	Abnormal homeostasis	5784	PTPN14	OMIM:613611
HP:0012337	Abnormal homeostasis	118429	ANTXR2	ORPHA:2176
HP:0012337	Abnormal homeostasis	23169	SLC35D1	ORPHA:3144
HP:0012337	Abnormal homeostasis	998	CDC42	OMIM:616737
HP:0012337	Abnormal homeostasis	998	CDC42	ORPHA:487796
HP:0012337	Abnormal homeostasis	8260	NAA10	OMIM:300855
HP:0012337	Abnormal homeostasis	2078	ERG	OMIM:620602
HP:0012337	Abnormal homeostasis	8517	IKBKG	OMIM:300291
HP:0012337	Abnormal homeostasis	57165	GJC2	OMIM:613480
HP:0012337	Abnormal homeostasis	57165	GJC2	ORPHA:79452
HP:0012337	Abnormal homeostasis	80208	SPG11	ORPHA:2822
HP:0012337	Abnormal homeostasis	374654	KIF7	OMIM:607131
HP:0012337	Abnormal homeostasis	54345	SOX18	OMIM:137940
HP:0012337	Abnormal homeostasis	79633	FAT4	OMIM:616006
HP:0012337	Abnormal homeostasis	79633	FAT4	ORPHA:2136
HP:0012337	Abnormal homeostasis	79633	FAT4	ORPHA:314679
HP:0012337	Abnormal homeostasis	9508	ADAMTS3	ORPHA:2136
HP:0012337	Abnormal homeostasis	9508	ADAMTS3	OMIM:618154
HP:0012337	Abnormal homeostasis	147372	CCBE1	ORPHA:2136
HP:0012337	Abnormal homeostasis	147372	CCBE1	OMIM:235510
HP:0012337	Abnormal homeostasis	5649	RELN	OMIM:257320
HP:0012337	Abnormal homeostasis	207	AKT1	ORPHA:744
HP:0012337	Abnormal homeostasis	2990	GUSB	ORPHA:584
HP:0012337	Abnormal homeostasis	7075	TIE1	OMIM:619401
HP:0012337	Abnormal homeostasis	285	ANGPT2	OMIM:619369
HP:0012337	Abnormal homeostasis	285	ANGPT2	ORPHA:79452
HP:0012337	Abnormal homeostasis	5594	MAPK1	OMIM:619087
HP:0012337	Abnormal homeostasis	5921	RASA1	ORPHA:137667
HP:0012337	Abnormal homeostasis	8642	DCHS1	ORPHA:314679
HP:0012337	Abnormal homeostasis	2324	FLT4	ORPHA:79452
HP:0012337	Abnormal homeostasis	90	ACVR1	ORPHA:337
HP:0012337	Abnormal homeostasis	23554	TSPAN12	ORPHA:891
HP:0012337	Abnormal homeostasis	4041	LRP5	ORPHA:891
HP:0012337	Abnormal homeostasis	8322	FZD4	ORPHA:891
HP:0012337	Abnormal homeostasis	4668	NAGA	ORPHA:79280
HP:0012337	Abnormal homeostasis	4668	NAGA	OMIM:609242
HP:0012337	Abnormal homeostasis	4668	NAGA	ORPHA:79279
HP:0012337	Abnormal homeostasis	22800	RRAS2	ORPHA:648
HP:0012337	Abnormal homeostasis	867	CBL	ORPHA:648
HP:0012337	Abnormal homeostasis	867	CBL	OMIM:613563
HP:0012337	Abnormal homeostasis	8216	LZTR1	ORPHA:648
HP:0012337	Abnormal homeostasis	6016	RIT1	ORPHA:648
HP:0012337	Abnormal homeostasis	6237	RRAS	ORPHA:648
HP:0012337	Abnormal homeostasis	22808	MRAS	ORPHA:648
HP:0012337	Abnormal homeostasis	200734	SPRED2	ORPHA:648
HP:0012337	Abnormal homeostasis	6654	SOS1	ORPHA:648
HP:0012337	Abnormal homeostasis	6655	SOS2	ORPHA:648
HP:0012337	Abnormal homeostasis	5781	PTPN11	ORPHA:648
HP:0012337	Abnormal homeostasis	5781	PTPN11	OMIM:163950
HP:0012337	Abnormal homeostasis	5922	RASA2	ORPHA:648
HP:0012337	Abnormal homeostasis	55901	THSD1	OMIM:620244
HP:0012337	Abnormal homeostasis	29969	MDFIC	OMIM:620014
HP:0012337	Abnormal homeostasis	7424	VEGFC	OMIM:615907
HP:0012337	Abnormal homeostasis	6399	TRAPPC2	ORPHA:93284
HP:0012337	Abnormal homeostasis	8838	CCN6	OMIM:208230
HP:0012337	Abnormal homeostasis	8838	CCN6	ORPHA:1159
HP:0012337	Abnormal homeostasis	2244	FGB	ORPHA:98880
HP:0012337	Abnormal homeostasis	2266	FGG	ORPHA:98880
HP:0012337	Abnormal homeostasis	3557	IL1RN	OMIM:612852
HP:0012337	Abnormal homeostasis	54	ACP5	OMIM:607944
HP:0012337	Abnormal homeostasis	2157	F8	ORPHA:169805
HP:0012337	Abnormal homeostasis	2157	F8	ORPHA:169802
HP:0012337	Abnormal homeostasis	3081	HGD	ORPHA:56
HP:0012337	Abnormal homeostasis	1289	COL5A1	ORPHA:287
HP:0012337	Abnormal homeostasis	1290	COL5A2	ORPHA:287
HP:0012337	Abnormal homeostasis	4921	DDR2	OMIM:618175
HP:0012337	Abnormal homeostasis	2783	GNB2	OMIM:619503
HP:0012337	Abnormal homeostasis	356	FASLG	ORPHA:3261
HP:0012337	Abnormal homeostasis	843	CASP10	ORPHA:3261
HP:0012337	Abnormal homeostasis	10112	KIF20A	OMIM:619433
HP:0012337	Abnormal homeostasis	4750	NEK1	OMIM:263520
HP:0012337	Abnormal homeostasis	57539	WDR35	OMIM:613610
HP:0012337	Abnormal homeostasis	57539	WDR35	ORPHA:93271
HP:0012337	Abnormal homeostasis	57539	WDR35	OMIM:614091
HP:0012337	Abnormal homeostasis	79796	ALG9	OMIM:608776
HP:0012337	Abnormal homeostasis	79796	ALG9	ORPHA:79328
HP:0012337	Abnormal homeostasis	5745	PTH1R	OMIM:215045
HP:0012337	Abnormal homeostasis	5745	PTH1R	ORPHA:50945
HP:0012337	Abnormal homeostasis	4247	MGAT2	ORPHA:79329
HP:0012337	Abnormal homeostasis	55112	DYNC2I1	ORPHA:93271
HP:0012337	Abnormal homeostasis	57560	IFT80	ORPHA:93271
HP:0012337	Abnormal homeostasis	79659	DYNC2H1	ORPHA:93271
HP:0012337	Abnormal homeostasis	89891	DYNC2I2	ORPHA:93271
HP:0012337	Abnormal homeostasis	91754	NEK9	OMIM:617022
HP:0012337	Abnormal homeostasis	202018	TAPT1	OMIM:616897
HP:0012337	Abnormal homeostasis	2122	MECOM	OMIM:616738
HP:0012337	Abnormal homeostasis	2720	GLB1	ORPHA:79255
HP:0012337	Abnormal homeostasis	2720	GLB1	OMIM:230500
HP:0012337	Abnormal homeostasis	9321	TRIP11	OMIM:200600
HP:0012337	Abnormal homeostasis	9321	TRIP11	ORPHA:93299
HP:0012337	Abnormal homeostasis	26503	SLC17A5	OMIM:269920
HP:0012337	Abnormal homeostasis	9786	KIAA0586	OMIM:616546
HP:0012337	Abnormal homeostasis	10661	KLF1	OMIM:613673
HP:0012337	Abnormal homeostasis	7476	WNT7A	ORPHA:2879
HP:0012337	Abnormal homeostasis	2317	FLNB	ORPHA:1263
HP:0012337	Abnormal homeostasis	5313	PKLR	ORPHA:766
HP:0012337	Abnormal homeostasis	9896	FIG4	OMIM:216340
HP:0012337	Abnormal homeostasis	9896	FIG4	ORPHA:3472
HP:0012337	Abnormal homeostasis	191	AHCY	ORPHA:88618
HP:0012337	Abnormal homeostasis	2629	GBA1	ORPHA:77261
HP:0012337	Abnormal homeostasis	55697	VAC14	ORPHA:3472
HP:0012337	Abnormal homeostasis	1301	COL11A1	OMIM:228520
HP:0012337	Abnormal homeostasis	4905	NSF	OMIM:619340
HP:0012337	Abnormal homeostasis	6007	RHD	OMIM:619462
HP:0012337	Abnormal homeostasis	146059	CDAN1	OMIM:224120
HP:0012337	Abnormal homeostasis	4591	TRIM37	OMIM:253250
HP:0012337	Abnormal homeostasis	3039	HBA1	ORPHA:163596
HP:0012337	Abnormal homeostasis	3040	HBA2	ORPHA:163596
HP:0012337	Abnormal homeostasis	90952	ESAM	OMIM:620371
HP:0012337	Abnormal homeostasis	5530	PPP3CA	OMIM:618265
HP:0012337	Abnormal homeostasis	1278	COL1A2	OMIM:166210
HP:0012337	Abnormal homeostasis	6138	RPL15	ORPHA:124
HP:0012337	Abnormal homeostasis	6224	RPS20	ORPHA:124
HP:0012337	Abnormal homeostasis	6165	RPL35A	ORPHA:124
HP:0012337	Abnormal homeostasis	6132	RPL8	ORPHA:124
HP:0012337	Abnormal homeostasis	6223	RPS19	ORPHA:124
HP:0012337	Abnormal homeostasis	6232	RPS27	ORPHA:124
HP:0012337	Abnormal homeostasis	55027	HEATR3	ORPHA:124
HP:0012337	Abnormal homeostasis	6160	RPL31	ORPHA:124
HP:0012337	Abnormal homeostasis	6201	RPS7	ORPHA:124
HP:0012337	Abnormal homeostasis	6155	RPL27	ORPHA:124
HP:0012337	Abnormal homeostasis	6234	RPS28	ORPHA:124
HP:0012337	Abnormal homeostasis	6135	RPL11	ORPHA:124
HP:0012337	Abnormal homeostasis	6229	RPS24	ORPHA:124
HP:0012337	Abnormal homeostasis	6125	RPL5	ORPHA:124
HP:0012337	Abnormal homeostasis	6204	RPS10	ORPHA:124
HP:0012337	Abnormal homeostasis	6133	RPL9	ORPHA:124
HP:0012337	Abnormal homeostasis	6231	RPS26	ORPHA:124
HP:0012337	Abnormal homeostasis	11224	RPL35	ORPHA:124
HP:0012337	Abnormal homeostasis	6218	RPS17	ORPHA:124
HP:0012337	Abnormal homeostasis	6154	RPL26	ORPHA:124
HP:0012337	Abnormal homeostasis	6210	RPS15A	ORPHA:124
HP:0012337	Abnormal homeostasis	90121	TSR2	ORPHA:124
HP:0012337	Abnormal homeostasis	6141	RPL18	ORPHA:124
HP:0012337	Abnormal homeostasis	6235	RPS29	ORPHA:124
HP:0012337	Abnormal homeostasis	57538	ALPK3	OMIM:618052
HP:0012337	Abnormal homeostasis	23426	GRIP1	OMIM:617667
HP:0012337	Abnormal homeostasis	56052	ALG1	OMIM:608540
HP:0012337	Abnormal homeostasis	5476	CTSA	OMIM:256540
HP:0012337	Abnormal homeostasis	38	ACAT1	ORPHA:134
HP:0012337	Abnormal homeostasis	57724	EPG5	OMIM:242840
HP:0012337	Abnormal homeostasis	197322	ACSF3	ORPHA:289504
HP:0012337	Abnormal homeostasis	1583	CYP11A1	ORPHA:289548
HP:0012337	Abnormal homeostasis	1583	CYP11A1	ORPHA:168558
HP:0012337	Abnormal homeostasis	6514	SLC2A2	OMIM:227810
HP:0012337	Abnormal homeostasis	4695	NDUFA2	OMIM:618235
HP:0012337	Abnormal homeostasis	27247	NFU1	OMIM:620938
HP:0012337	Abnormal homeostasis	29960	MRM2	OMIM:618567
HP:0012337	Abnormal homeostasis	10686	CLDN16	OMIM:248250
HP:0012337	Abnormal homeostasis	3773	KCNJ16	OMIM:619406
HP:0012337	Abnormal homeostasis	2110	ETFDH	OMIM:231680
HP:0012337	Abnormal homeostasis	2108	ETFA	OMIM:231680
HP:0012337	Abnormal homeostasis	2109	ETFB	OMIM:231680
HP:0012337	Abnormal homeostasis	1497	CTNS	ORPHA:411629
HP:0012337	Abnormal homeostasis	83483	PLVAP	OMIM:618183
HP:0012337	Abnormal homeostasis	1738	DLD	OMIM:246900
HP:0012337	Abnormal homeostasis	26235	FBXL4	OMIM:615471
HP:0012337	Abnormal homeostasis	374291	NDUFS7	OMIM:618224
HP:0012337	Abnormal homeostasis	229	ALDOB	OMIM:229600
HP:0012337	Abnormal homeostasis	229	ALDOB	ORPHA:469
HP:0012337	Abnormal homeostasis	4723	NDUFV1	OMIM:618225
HP:0012337	Abnormal homeostasis	57128	LYRM4	OMIM:615595
HP:0012337	Abnormal homeostasis	763	CA5A	OMIM:615751
HP:0012337	Abnormal homeostasis	4719	NDUFS1	OMIM:618226
HP:0012337	Abnormal homeostasis	25821	MTO1	OMIM:614702
HP:0012337	Abnormal homeostasis	4967	OGDH	OMIM:203740
HP:0012337	Abnormal homeostasis	23417	MLYCD	OMIM:248360
HP:0012337	Abnormal homeostasis	4720	NDUFS2	OMIM:618228
HP:0012337	Abnormal homeostasis	2653	GCSH	OMIM:620423
HP:0012337	Abnormal homeostasis	5250	SLC25A3	ORPHA:91130
HP:0012337	Abnormal homeostasis	5250	SLC25A3	OMIM:610773
HP:0012337	Abnormal homeostasis	3032	HADHB	OMIM:620300
HP:0012337	Abnormal homeostasis	132158	GLYCTK	ORPHA:941
HP:0012337	Abnormal homeostasis	132158	GLYCTK	OMIM:220120
HP:0012337	Abnormal homeostasis	3028	HSD17B10	ORPHA:391457
HP:0012337	Abnormal homeostasis	3028	HSD17B10	ORPHA:391428
HP:0012337	Abnormal homeostasis	3028	HSD17B10	OMIM:300438
HP:0012337	Abnormal homeostasis	9380	GRHPR	OMIM:260000
HP:0012337	Abnormal homeostasis	26275	HIBCH	ORPHA:88639
HP:0012337	Abnormal homeostasis	6341	SCO1	OMIM:619048
HP:0012337	Abnormal homeostasis	23395	LARS2	OMIM:617021
HP:0012337	Abnormal homeostasis	51103	NDUFAF1	OMIM:618234
HP:0012337	Abnormal homeostasis	5160	PDHA1	OMIM:312170
HP:0012337	Abnormal homeostasis	1352	COX10	OMIM:619046
HP:0012337	Abnormal homeostasis	3141	HLCS	OMIM:253270
HP:0012337	Abnormal homeostasis	29078	NDUFAF4	OMIM:618237
HP:0012337	Abnormal homeostasis	55163	PNPO	ORPHA:79096
HP:0012337	Abnormal homeostasis	55163	PNPO	OMIM:610090
HP:0012337	Abnormal homeostasis	3242	HPD	OMIM:140350
HP:0012337	Abnormal homeostasis	3242	HPD	ORPHA:2118
HP:0012337	Abnormal homeostasis	2710	GK	OMIM:307030
HP:0012337	Abnormal homeostasis	58528	RRAGD	OMIM:620152
HP:0012337	Abnormal homeostasis	1340	COX6B1	OMIM:619051
HP:0012337	Abnormal homeostasis	84987	COX14	OMIM:619053
HP:0012337	Abnormal homeostasis	8671	SLC4A4	OMIM:604278
HP:0012337	Abnormal homeostasis	54539	NDUFB11	OMIM:301021
HP:0012337	Abnormal homeostasis	57551	TAOK1	OMIM:619575
HP:0012337	Abnormal homeostasis	2937	GSS	OMIM:231900
HP:0012337	Abnormal homeostasis	34	ACADM	OMIM:201450
HP:0012337	Abnormal homeostasis	100131801	PET100	OMIM:619055
HP:0012337	Abnormal homeostasis	50619	DEF6	OMIM:619573
HP:0012337	Abnormal homeostasis	10616	RBCK1	OMIM:615895
HP:0012337	Abnormal homeostasis	353	APRT	OMIM:614723
HP:0012337	Abnormal homeostasis	64087	MCCC2	OMIM:210210
HP:0012337	Abnormal homeostasis	549	AUH	OMIM:250950
HP:0012337	Abnormal homeostasis	6821	SUOX	OMIM:272300
HP:0012337	Abnormal homeostasis	3158	HMGCS2	OMIM:605911
HP:0012337	Abnormal homeostasis	1594	CYP27B1	OMIM:264700
HP:0012337	Abnormal homeostasis	4714	NDUFB8	OMIM:618252
HP:0012337	Abnormal homeostasis	4700	NDUFA6	OMIM:618253
HP:0012337	Abnormal homeostasis	284184	NDUFAF8	OMIM:618776
HP:0012337	Abnormal homeostasis	84300	UQCC2	OMIM:615824
HP:0012337	Abnormal homeostasis	128989	TANGO2	OMIM:616878
HP:0012337	Abnormal homeostasis	63894	VIPAS39	OMIM:613404
HP:0012337	Abnormal homeostasis	760	CA2	ORPHA:2785
HP:0012337	Abnormal homeostasis	11212	PLPBP	OMIM:617290
HP:0012337	Abnormal homeostasis	54914	FOCAD	OMIM:619991
HP:0012337	Abnormal homeostasis	7381	UQCRB	OMIM:615158
HP:0012337	Abnormal homeostasis	4329	ALDH6A1	OMIM:614105
HP:0012337	Abnormal homeostasis	10128	LRPPRC	ORPHA:70472
HP:0012337	Abnormal homeostasis	8050	PDHX	OMIM:245349
HP:0012337	Abnormal homeostasis	7385	UQCRC2	OMIM:615160
HP:0012337	Abnormal homeostasis	27068	PPA2	OMIM:617222
HP:0012337	Abnormal homeostasis	7284	TUFM	OMIM:610678
HP:0012337	Abnormal homeostasis	2271	FH	OMIM:606812
HP:0012337	Abnormal homeostasis	7369	UMOD	OMIM:162000
HP:0012337	Abnormal homeostasis	3762	KCNJ5	OMIM:613677
HP:0012337	Abnormal homeostasis	1807	DPYS	OMIM:222748
HP:0012337	Abnormal homeostasis	2542	SLC37A4	OMIM:232240
HP:0012337	Abnormal homeostasis	2639	GCDH	OMIM:231670
HP:0012337	Abnormal homeostasis	57505	AARS2	OMIM:614096
HP:0012337	Abnormal homeostasis	65125	WNK1	OMIM:614492
HP:0012337	Abnormal homeostasis	51733	UPB1	OMIM:613161
HP:0012337	Abnormal homeostasis	8452	CUL3	OMIM:614496
HP:0012337	Abnormal homeostasis	9054	NFS1	OMIM:619386
HP:0012337	Abnormal homeostasis	133686	NADK2	OMIM:616034
HP:0012337	Abnormal homeostasis	35	ACADS	ORPHA:26792
HP:0012337	Abnormal homeostasis	8942	KYNU	ORPHA:79155
HP:0012337	Abnormal homeostasis	5052	PRDX1	OMIM:277400
HP:0012337	Abnormal homeostasis	1374	CPT1A	ORPHA:156
HP:0012337	Abnormal homeostasis	1534	CYB561	OMIM:618182
HP:0012337	Abnormal homeostasis	3481	IGF2	ORPHA:231140
HP:0012337	Abnormal homeostasis	3481	IGF2	ORPHA:397590
HP:0012337	Abnormal homeostasis	5015	OTX2	OMIM:613986
HP:0012337	Abnormal homeostasis	5015	OTX2	ORPHA:95494
HP:0012337	Abnormal homeostasis	56246	MRAP	OMIM:607398
HP:0012337	Abnormal homeostasis	2688	GH1	OMIM:262400
HP:0012337	Abnormal homeostasis	5528	PPP2R5D	OMIM:616355
HP:0012337	Abnormal homeostasis	5528	PPP2R5D	ORPHA:457279
HP:0012337	Abnormal homeostasis	23312	DMXL2	OMIM:616113
HP:0012337	Abnormal homeostasis	23312	DMXL2	ORPHA:453533
HP:0012337	Abnormal homeostasis	56922	MCCC1	OMIM:210200
HP:0012337	Abnormal homeostasis	56922	MCCC1	ORPHA:6
HP:0012337	Abnormal homeostasis	3265	HRAS	OMIM:218040
HP:0012337	Abnormal homeostasis	23530	NNT	OMIM:614736
HP:0012337	Abnormal homeostasis	4953	ODC1	OMIM:619075
HP:0012337	Abnormal homeostasis	51594	NBAS	OMIM:616483
HP:0012337	Abnormal homeostasis	5447	POR	OMIM:201750
HP:0012337	Abnormal homeostasis	5255	PHKA1	OMIM:300559
HP:0012337	Abnormal homeostasis	55699	IARS2	OMIM:616007
HP:0012337	Abnormal homeostasis	79753	SNIP1	OMIM:614501
HP:0012337	Abnormal homeostasis	5836	PYGL	OMIM:232700
HP:0012337	Abnormal homeostasis	5836	PYGL	ORPHA:369
HP:0012337	Abnormal homeostasis	5728	PTEN	ORPHA:109
HP:0012337	Abnormal homeostasis	10056	FARSB	OMIM:613658
HP:0012337	Abnormal homeostasis	128674	PROKR2	ORPHA:95496
HP:0012337	Abnormal homeostasis	55717	WDR11	ORPHA:95496
HP:0012337	Abnormal homeostasis	6091	ROBO1	ORPHA:95496
HP:0012337	Abnormal homeostasis	23432	GPR161	ORPHA:95496
HP:0012337	Abnormal homeostasis	3170	FOXA2	ORPHA:95494
HP:0012337	Abnormal homeostasis	1028	CDKN1C	ORPHA:397590
HP:0012337	Abnormal homeostasis	5324	PLAG1	ORPHA:397590
HP:0012337	Abnormal homeostasis	471	ATIC	OMIM:608688
HP:0012337	Abnormal homeostasis	7030	TFE3	OMIM:301066
HP:0012337	Abnormal homeostasis	2239	GPC4	ORPHA:373
HP:0012337	Abnormal homeostasis	54941	RNF125	OMIM:616260
HP:0012337	Abnormal homeostasis	178	AGL	ORPHA:366
HP:0012337	Abnormal homeostasis	178	AGL	OMIM:232400
HP:0012337	Abnormal homeostasis	6658	SOX3	ORPHA:90695
HP:0012337	Abnormal homeostasis	2690	GHR	ORPHA:314802
HP:0012337	Abnormal homeostasis	2690	GHR	ORPHA:633
HP:0012337	Abnormal homeostasis	10525	HYOU1	OMIM:233600
HP:0012337	Abnormal homeostasis	2530	FUT8	OMIM:618005
HP:0012337	Abnormal homeostasis	7019	TFAM	OMIM:617156
HP:0012337	Abnormal homeostasis	9971	NR1H4	OMIM:617049
HP:0012337	Abnormal homeostasis	2475	MTOR	OMIM:616638
HP:0012337	Abnormal homeostasis	6811	STX5	OMIM:620454
HP:0012337	Abnormal homeostasis	51241	COX16	OMIM:619355
HP:0012337	Abnormal homeostasis	54809	SAMD9	OMIM:617053
HP:0012337	Abnormal homeostasis	9150	CTDP1	ORPHA:48431
HP:0012337	Abnormal homeostasis	80036	TRPM3	OMIM:620224
HP:0012337	Abnormal homeostasis	29926	GMPPA	ORPHA:869
HP:0012337	Abnormal homeostasis	60684	TRAPPC11	ORPHA:869
HP:0012337	Abnormal homeostasis	8086	AAAS	ORPHA:869
HP:0012337	Abnormal homeostasis	55252	ASXL2	OMIM:617190
HP:0012337	Abnormal homeostasis	4791	NFKB2	OMIM:615577
HP:0012337	Abnormal homeostasis	2693	GHSR	ORPHA:314811
HP:0012337	Abnormal homeostasis	6809	STX3	ORPHA:2290
HP:0012337	Abnormal homeostasis	4645	MYO5B	ORPHA:2290
HP:0012337	Abnormal homeostasis	4645	MYO5B	OMIM:251850
HP:0012337	Abnormal homeostasis	79827	CLMP	OMIM:615237
HP:0012337	Abnormal homeostasis	50674	NEUROG3	ORPHA:83620
HP:0012337	Abnormal homeostasis	50674	NEUROG3	OMIM:610370
HP:0012337	Abnormal homeostasis	79731	NARS2	ORPHA:79134
HP:0012337	Abnormal homeostasis	3284	HSD3B2	ORPHA:90791
HP:0012337	Abnormal homeostasis	4952	OCRL	ORPHA:534
HP:0012337	Abnormal homeostasis	346171	ZFP57	ORPHA:99886
HP:0012337	Abnormal homeostasis	346171	ZFP57	OMIM:601410
HP:0012337	Abnormal homeostasis	57061	HYMAI	ORPHA:99886
HP:0012337	Abnormal homeostasis	57061	HYMAI	ORPHA:96191
HP:0012337	Abnormal homeostasis	57061	HYMAI	OMIM:601410
HP:0012337	Abnormal homeostasis	5325	PLAGL1	ORPHA:99886
HP:0012337	Abnormal homeostasis	5325	PLAGL1	ORPHA:96191
HP:0012337	Abnormal homeostasis	4072	EPCAM	ORPHA:92050
HP:0012337	Abnormal homeostasis	105371045	PERCC1	ORPHA:92050
HP:0012337	Abnormal homeostasis	2212	FCGR2A	OMIM:219700
HP:0012337	Abnormal homeostasis	7040	TGFB1	OMIM:219700
HP:0012337	Abnormal homeostasis	3938	LCT	OMIM:223000
HP:0012337	Abnormal homeostasis	1956	EGFR	OMIM:616069
HP:0012337	Abnormal homeostasis	1585	CYP11B2	OMIM:203400
HP:0012337	Abnormal homeostasis	1585	CYP11B2	OMIM:610600
HP:0012337	Abnormal homeostasis	1585	CYP11B2	ORPHA:556030
HP:0012337	Abnormal homeostasis	4594	MMUT	OMIM:251000
HP:0012337	Abnormal homeostasis	4594	MMUT	ORPHA:79312
HP:0012337	Abnormal homeostasis	84693	MCEE	OMIM:251120
HP:0012337	Abnormal homeostasis	5095	PCCA	OMIM:606054
HP:0012337	Abnormal homeostasis	5096	PCCB	OMIM:606054
HP:0012337	Abnormal homeostasis	26276	VPS33B	OMIM:208085
HP:0012337	Abnormal homeostasis	1591	CYP24A1	OMIM:143880
HP:0012337	Abnormal homeostasis	326625	MMAB	OMIM:251110
HP:0012337	Abnormal homeostasis	151516	ASPRV1	ORPHA:313
HP:0012337	Abnormal homeostasis	242	ALOX12B	ORPHA:313
HP:0012337	Abnormal homeostasis	126410	CYP4F22	ORPHA:313
HP:0012337	Abnormal homeostasis	6820	SULT2B1	ORPHA:313
HP:0012337	Abnormal homeostasis	643418	LIPN	ORPHA:313
HP:0012337	Abnormal homeostasis	348938	NIPAL4	ORPHA:313
HP:0012337	Abnormal homeostasis	121214	SDR9C7	ORPHA:313
HP:0012337	Abnormal homeostasis	7051	TGM1	ORPHA:313
HP:0012337	Abnormal homeostasis	189	AGXT	OMIM:259900
HP:0012337	Abnormal homeostasis	6507	SLC1A3	ORPHA:2131
HP:0012337	Abnormal homeostasis	478	ATP1A3	ORPHA:2131
HP:0012337	Abnormal homeostasis	166785	MMAA	OMIM:251100
HP:0012337	Abnormal homeostasis	190	NR0B1	OMIM:300200
HP:0012337	Abnormal homeostasis	4306	NR3C2	OMIM:177735
HP:0012337	Abnormal homeostasis	28957	MRPS28	OMIM:618958
HP:0012337	Abnormal homeostasis	1962	EHHADH	ORPHA:3337
HP:0012337	Abnormal homeostasis	2628	GATM	ORPHA:3337
HP:0012337	Abnormal homeostasis	137682	NDUFAF6	ORPHA:3337
HP:0012337	Abnormal homeostasis	6569	SLC34A1	ORPHA:3337
HP:0012337	Abnormal homeostasis	1027	CDKN1B	ORPHA:652
HP:0012337	Abnormal homeostasis	1026	CDKN1A	ORPHA:652
HP:0012337	Abnormal homeostasis	1030	CDKN2B	ORPHA:652
HP:0012337	Abnormal homeostasis	1031	CDKN2C	ORPHA:652
HP:0012337	Abnormal homeostasis	50617	ATP6V0A4	OMIM:602722
HP:0012337	Abnormal homeostasis	27034	ACAD8	ORPHA:79159
HP:0012337	Abnormal homeostasis	11005	SPINK5	ORPHA:634
HP:0012337	Abnormal homeostasis	26191	PTPN22	ORPHA:397
HP:0012337	Abnormal homeostasis	26191	PTPN22	OMIM:180300
HP:0012337	Abnormal homeostasis	26191	PTPN22	ORPHA:536
HP:0012337	Abnormal homeostasis	26191	PTPN22	ORPHA:900
HP:0012337	Abnormal homeostasis	26191	PTPN22	ORPHA:3437
HP:0012337	Abnormal homeostasis	3106	HLA-B	ORPHA:397
HP:0012337	Abnormal homeostasis	3106	HLA-B	ORPHA:117
HP:0012337	Abnormal homeostasis	3106	HLA-B	ORPHA:29207
HP:0012337	Abnormal homeostasis	3106	HLA-B	ORPHA:3287
HP:0012337	Abnormal homeostasis	3106	HLA-B	ORPHA:36426
HP:0012337	Abnormal homeostasis	3123	HLA-DRB1	ORPHA:397
HP:0012337	Abnormal homeostasis	3123	HLA-DRB1	ORPHA:545
HP:0012337	Abnormal homeostasis	3123	HLA-DRB1	ORPHA:536
HP:0012337	Abnormal homeostasis	3123	HLA-DRB1	ORPHA:797
HP:0012337	Abnormal homeostasis	3123	HLA-DRB1	ORPHA:747
HP:0012337	Abnormal homeostasis	3123	HLA-DRB1	ORPHA:85414
HP:0012337	Abnormal homeostasis	3123	HLA-DRB1	OMIM:181000
HP:0012337	Abnormal homeostasis	8974	P4HA2	ORPHA:397
HP:0012337	Abnormal homeostasis	114548	NLRP3	OMIM:617772
HP:0012337	Abnormal homeostasis	114548	NLRP3	ORPHA:575
HP:0012337	Abnormal homeostasis	114548	NLRP3	OMIM:120100
HP:0012337	Abnormal homeostasis	114548	NLRP3	ORPHA:47045
HP:0012337	Abnormal homeostasis	114548	NLRP3	ORPHA:1451
HP:0012337	Abnormal homeostasis	8573	CASK	OMIM:300908
HP:0012337	Abnormal homeostasis	2539	G6PD	OMIM:300908
HP:0012337	Abnormal homeostasis	9881	TRANK1	ORPHA:33543
HP:0012337	Abnormal homeostasis	5314	PKHD1	ORPHA:53035
HP:0012337	Abnormal homeostasis	5604	MAP2K1	ORPHA:389
HP:0012337	Abnormal homeostasis	4893	NRAS	ORPHA:389
HP:0012337	Abnormal homeostasis	673	BRAF	ORPHA:389
HP:0012337	Abnormal homeostasis	4535	MT-ND1	ORPHA:255210
HP:0012337	Abnormal homeostasis	4535	MT-ND1	ORPHA:550
HP:0012337	Abnormal homeostasis	4536	MT-ND2	ORPHA:255210
HP:0012337	Abnormal homeostasis	4537	MT-ND3	ORPHA:255210
HP:0012337	Abnormal homeostasis	4538	MT-ND4	ORPHA:255210
HP:0012337	Abnormal homeostasis	4538	MT-ND4	ORPHA:550
HP:0012337	Abnormal homeostasis	4567	MT-TL1	ORPHA:255210
HP:0012337	Abnormal homeostasis	4567	MT-TL1	ORPHA:550
HP:0012337	Abnormal homeostasis	4578	MT-TW	ORPHA:255210
HP:0012337	Abnormal homeostasis	4578	MT-TW	ORPHA:550
HP:0012337	Abnormal homeostasis	4577	MT-TV	ORPHA:255210
HP:0012337	Abnormal homeostasis	4508	MT-ATP6	ORPHA:255210
HP:0012337	Abnormal homeostasis	4540	MT-ND5	ORPHA:255210
HP:0012337	Abnormal homeostasis	4540	MT-ND5	ORPHA:550
HP:0012337	Abnormal homeostasis	4541	MT-ND6	ORPHA:255210
HP:0012337	Abnormal homeostasis	4541	MT-ND6	ORPHA:550
HP:0012337	Abnormal homeostasis	4566	MT-TK	ORPHA:255210
HP:0012337	Abnormal homeostasis	249	ALPL	OMIM:241500
HP:0012337	Abnormal homeostasis	939	CD27	OMIM:615122
HP:0012337	Abnormal homeostasis	84936	ZFYVE19	OMIM:619849
HP:0012337	Abnormal homeostasis	6523	SLC5A1	ORPHA:35710
HP:0012337	Abnormal homeostasis	1991	ELANE	OMIM:162800
HP:0012337	Abnormal homeostasis	1991	ELANE	ORPHA:486
HP:0012337	Abnormal homeostasis	1536	CYBB	ORPHA:379
HP:0012337	Abnormal homeostasis	1536	CYBB	OMIM:306400
HP:0012337	Abnormal homeostasis	4688	NCF2	ORPHA:379
HP:0012337	Abnormal homeostasis	1535	CYBA	ORPHA:379
HP:0012337	Abnormal homeostasis	4689	NCF4	ORPHA:379
HP:0012337	Abnormal homeostasis	653361	NCF1	ORPHA:379
HP:0012337	Abnormal homeostasis	79415	CYBC1	ORPHA:379
HP:0012337	Abnormal homeostasis	79415	CYBC1	OMIM:618935
HP:0012337	Abnormal homeostasis	1896	EDA	OMIM:305100
HP:0012337	Abnormal homeostasis	6772	STAT1	OMIM:614162
HP:0012337	Abnormal homeostasis	2859	GPR35	ORPHA:171
HP:0012337	Abnormal homeostasis	10507	SEMA4D	ORPHA:171
HP:0012337	Abnormal homeostasis	4485	MST1	ORPHA:171
HP:0012337	Abnormal homeostasis	6925	TCF4	ORPHA:171
HP:0012337	Abnormal homeostasis	1777	DNASE2	OMIM:619858
HP:0012337	Abnormal homeostasis	5621	PRNP	OMIM:600072
HP:0012337	Abnormal homeostasis	5621	PRNP	ORPHA:466
HP:0012337	Abnormal homeostasis	2035	EPB41	ORPHA:288
HP:0012337	Abnormal homeostasis	2995	GYPC	ORPHA:288
HP:0012337	Abnormal homeostasis	6710	SPTB	ORPHA:288
HP:0012337	Abnormal homeostasis	6710	SPTB	ORPHA:822
HP:0012337	Abnormal homeostasis	6708	SPTA1	ORPHA:288
HP:0012337	Abnormal homeostasis	6708	SPTA1	ORPHA:822
HP:0012337	Abnormal homeostasis	1130	LYST	ORPHA:167
HP:0012337	Abnormal homeostasis	58484	NLRC4	OMIM:616115
HP:0012337	Abnormal homeostasis	58484	NLRC4	OMIM:616050
HP:0012337	Abnormal homeostasis	477	ATP1A2	OMIM:602481
HP:0012337	Abnormal homeostasis	1244	ABCC2	ORPHA:234
HP:0012337	Abnormal homeostasis	55768	NGLY1	OMIM:615273
HP:0012337	Abnormal homeostasis	51284	TLR7	OMIM:301080
HP:0012337	Abnormal homeostasis	51284	TLR7	ORPHA:536
HP:0012337	Abnormal homeostasis	4210	MEFV	ORPHA:342
HP:0012337	Abnormal homeostasis	4210	MEFV	ORPHA:117
HP:0012337	Abnormal homeostasis	5551	PRF1	OMIM:603553
HP:0012337	Abnormal homeostasis	5551	PRF1	ORPHA:540
HP:0012337	Abnormal homeostasis	8676	STX11	OMIM:603552
HP:0012337	Abnormal homeostasis	8676	STX11	ORPHA:540
HP:0012337	Abnormal homeostasis	554	AVPR2	ORPHA:223
HP:0012337	Abnormal homeostasis	359	AQP2	ORPHA:223
HP:0012337	Abnormal homeostasis	5373	PMM2	ORPHA:79318
HP:0012337	Abnormal homeostasis	811	CALR	ORPHA:131
HP:0012337	Abnormal homeostasis	811	CALR	ORPHA:824
HP:0012337	Abnormal homeostasis	811	CALR	OMIM:254450
HP:0012337	Abnormal homeostasis	3717	JAK2	ORPHA:131
HP:0012337	Abnormal homeostasis	3717	JAK2	ORPHA:824
HP:0012337	Abnormal homeostasis	3717	JAK2	OMIM:254450
HP:0012337	Abnormal homeostasis	2153	F5	ORPHA:131
HP:0012337	Abnormal homeostasis	2184	FAH	OMIM:276700
HP:0012337	Abnormal homeostasis	3586	IL10	OMIM:180300
HP:0012337	Abnormal homeostasis	3586	IL10	ORPHA:117
HP:0012337	Abnormal homeostasis	3586	IL10	ORPHA:536
HP:0012337	Abnormal homeostasis	6583	SLC22A4	OMIM:180300
HP:0012337	Abnormal homeostasis	4261	CIITA	OMIM:180300
HP:0012337	Abnormal homeostasis	51744	CD244	OMIM:180300
HP:0012337	Abnormal homeostasis	4795	NFKBIL1	OMIM:180300
HP:0012337	Abnormal homeostasis	64127	NOD2	ORPHA:90340
HP:0012337	Abnormal homeostasis	1967	EIF2B1	OMIM:603896
HP:0012337	Abnormal homeostasis	6728	SRP19	ORPHA:486
HP:0012337	Abnormal homeostasis	2672	GFI1	ORPHA:486
HP:0012337	Abnormal homeostasis	81570	CLPB	ORPHA:486
HP:0012337	Abnormal homeostasis	2000	ELF4	OMIM:301074
HP:0012337	Abnormal homeostasis	4615	MYD88	ORPHA:33226
HP:0012337	Abnormal homeostasis	204	AK2	ORPHA:33355
HP:0012337	Abnormal homeostasis	6929	TCF3	ORPHA:33110
HP:0012337	Abnormal homeostasis	7922	SLC39A7	ORPHA:33110
HP:0012337	Abnormal homeostasis	973	CD79A	ORPHA:33110
HP:0012337	Abnormal homeostasis	974	CD79B	ORPHA:33110
HP:0012337	Abnormal homeostasis	6688	SPI1	ORPHA:33110
HP:0012337	Abnormal homeostasis	3543	IGLL1	ORPHA:33110
HP:0012337	Abnormal homeostasis	3507	IGHM	ORPHA:33110
HP:0012337	Abnormal homeostasis	29760	BLNK	ORPHA:33110
HP:0012337	Abnormal homeostasis	5295	PIK3R1	ORPHA:33110
HP:0012337	Abnormal homeostasis	56262	LRRC8A	ORPHA:33110
HP:0012337	Abnormal homeostasis	149233	IL23R	ORPHA:117
HP:0012337	Abnormal homeostasis	6775	STAT4	ORPHA:117
HP:0012337	Abnormal homeostasis	6775	STAT4	ORPHA:536
HP:0012337	Abnormal homeostasis	6775	STAT4	ORPHA:93552
HP:0012337	Abnormal homeostasis	1230	CCR1	ORPHA:117
HP:0012337	Abnormal homeostasis	355	FAS	ORPHA:117
HP:0012337	Abnormal homeostasis	355	FAS	ORPHA:3437
HP:0012337	Abnormal homeostasis	3592	IL12A	ORPHA:117
HP:0012337	Abnormal homeostasis	101928376	IL12A-AS1	ORPHA:117
HP:0012337	Abnormal homeostasis	7099	TLR4	ORPHA:117
HP:0012337	Abnormal homeostasis	3459	IFNGR1	ORPHA:117
HP:0012337	Abnormal homeostasis	3459	IFNGR1	OMIM:209950
HP:0012337	Abnormal homeostasis	720	C4A	ORPHA:117
HP:0012337	Abnormal homeostasis	720	C4A	ORPHA:536
HP:0012337	Abnormal homeostasis	337867	UBAC2	ORPHA:117
HP:0012337	Abnormal homeostasis	51752	ERAP1	ORPHA:117
HP:0012337	Abnormal homeostasis	8302	KLRC4	ORPHA:117
HP:0012337	Abnormal homeostasis	7187	TRAF3	ORPHA:1930
HP:0012337	Abnormal homeostasis	81622	UNC93B1	ORPHA:1930
HP:0012337	Abnormal homeostasis	148022	TICAM1	ORPHA:1930
HP:0012337	Abnormal homeostasis	7098	TLR3	ORPHA:1930
HP:0012337	Abnormal homeostasis	29110	TBK1	ORPHA:1930
HP:0012337	Abnormal homeostasis	3155	HMGCL	ORPHA:20
HP:0012337	Abnormal homeostasis	3155	HMGCL	OMIM:246450
HP:0012337	Abnormal homeostasis	4558	MT-TF	ORPHA:550
HP:0012337	Abnormal homeostasis	4572	MT-TQ	ORPHA:550
HP:0012337	Abnormal homeostasis	4512	MT-CO1	ORPHA:550
HP:0012337	Abnormal homeostasis	4512	MT-CO1	ORPHA:99845
HP:0012337	Abnormal homeostasis	4513	MT-CO2	ORPHA:550
HP:0012337	Abnormal homeostasis	4514	MT-CO3	ORPHA:550
HP:0012337	Abnormal homeostasis	4514	MT-CO3	ORPHA:99845
HP:0012337	Abnormal homeostasis	4574	MT-TS1	ORPHA:550
HP:0012337	Abnormal homeostasis	4575	MT-TS2	ORPHA:550
HP:0012337	Abnormal homeostasis	4564	MT-TH	ORPHA:550
HP:0012337	Abnormal homeostasis	55388	MCM10	OMIM:619313
HP:0012337	Abnormal homeostasis	331	XIAP	OMIM:300635
HP:0012337	Abnormal homeostasis	3659	IRF1	OMIM:620668
HP:0012337	Abnormal homeostasis	3875	KRT18	OMIM:215600
HP:0012337	Abnormal homeostasis	9256	TSPOAP1	ORPHA:101150
HP:0012337	Abnormal homeostasis	7054	TH	ORPHA:101150
HP:0012337	Abnormal homeostasis	596	BCL2	ORPHA:545
HP:0012337	Abnormal homeostasis	3492	IGH	ORPHA:545
HP:0012337	Abnormal homeostasis	3492	IGH	ORPHA:52416
HP:0012337	Abnormal homeostasis	3492	IGH	ORPHA:52417
HP:0012337	Abnormal homeostasis	604	BCL6	ORPHA:545
HP:0012337	Abnormal homeostasis	779	CACNA1S	ORPHA:423
HP:0012337	Abnormal homeostasis	779	CACNA1S	OMIM:601887
HP:0012337	Abnormal homeostasis	6261	RYR1	ORPHA:423
HP:0012337	Abnormal homeostasis	7157	TP53	ORPHA:668
HP:0012337	Abnormal homeostasis	5925	RB1	ORPHA:668
HP:0012337	Abnormal homeostasis	11200	CHEK2	ORPHA:668
HP:0012337	Abnormal homeostasis	201294	UNC13D	ORPHA:540
HP:0012337	Abnormal homeostasis	201294	UNC13D	OMIM:608898
HP:0012337	Abnormal homeostasis	6813	STXBP2	ORPHA:540
HP:0012337	Abnormal homeostasis	6813	STXBP2	OMIM:613101
HP:0012337	Abnormal homeostasis	55315	SLC29A3	OMIM:602782
HP:0012337	Abnormal homeostasis	11277	TREX1	OMIM:225750
HP:0012337	Abnormal homeostasis	11277	TREX1	ORPHA:536
HP:0012337	Abnormal homeostasis	7248	TSC1	ORPHA:538
HP:0012337	Abnormal homeostasis	7249	TSC2	ORPHA:538
HP:0012337	Abnormal homeostasis	3930	LBR	ORPHA:779
HP:0012337	Abnormal homeostasis	5698	PSMB9	OMIM:620796
HP:0012337	Abnormal homeostasis	5978	REST	ORPHA:654
HP:0012337	Abnormal homeostasis	129563	DIS3L2	ORPHA:654
HP:0012337	Abnormal homeostasis	675	BRCA2	ORPHA:654
HP:0012337	Abnormal homeostasis	675	BRCA2	ORPHA:70567
HP:0012337	Abnormal homeostasis	9319	TRIP13	ORPHA:654
HP:0012337	Abnormal homeostasis	7490	WT1	ORPHA:654
HP:0012337	Abnormal homeostasis	7490	WT1	ORPHA:656
HP:0012337	Abnormal homeostasis	10155	TRIM28	ORPHA:654
HP:0012337	Abnormal homeostasis	11281	POU6F2	ORPHA:654
HP:0012337	Abnormal homeostasis	2719	GPC3	ORPHA:654
HP:0012337	Abnormal homeostasis	283120	H19	ORPHA:654
HP:0012337	Abnormal homeostasis	2215	FCGR3B	ORPHA:536
HP:0012337	Abnormal homeostasis	2215	FCGR3B	ORPHA:464370
HP:0012337	Abnormal homeostasis	3684	ITGAM	ORPHA:536
HP:0012337	Abnormal homeostasis	221895	JAZF1	ORPHA:536
HP:0012337	Abnormal homeostasis	7292	TNFSF4	ORPHA:536
HP:0012337	Abnormal homeostasis	640	BLK	ORPHA:536
HP:0012337	Abnormal homeostasis	55024	BANK1	ORPHA:536
HP:0012337	Abnormal homeostasis	3500	IGHG1	ORPHA:536
HP:0012337	Abnormal homeostasis	3654	IRAK1	ORPHA:536
HP:0012337	Abnormal homeostasis	3654	IRAK1	ORPHA:93552
HP:0012337	Abnormal homeostasis	1493	CTLA4	ORPHA:536
HP:0012337	Abnormal homeostasis	1493	CTLA4	ORPHA:900
HP:0012337	Abnormal homeostasis	1493	CTLA4	ORPHA:2584
HP:0012337	Abnormal homeostasis	1380	CR2	ORPHA:536
HP:0012337	Abnormal homeostasis	1380	CR2	OMIM:614699
HP:0012337	Abnormal homeostasis	5133	PDCD1	ORPHA:536
HP:0012337	Abnormal homeostasis	2113	ETS1	ORPHA:536
HP:0012337	Abnormal homeostasis	2213	FCGR2B	ORPHA:536
HP:0012337	Abnormal homeostasis	10318	TNIP1	ORPHA:536
HP:0012337	Abnormal homeostasis	7332	UBE2L3	ORPHA:536
HP:0012337	Abnormal homeostasis	79932	KIAA0319L	ORPHA:536
HP:0012337	Abnormal homeostasis	4204	MECP2	ORPHA:536
HP:0012337	Abnormal homeostasis	3663	IRF5	ORPHA:536
HP:0012337	Abnormal homeostasis	721	C4B	ORPHA:536
HP:0012337	Abnormal homeostasis	1773	DNASE1	ORPHA:536
HP:0012337	Abnormal homeostasis	6696	SPP1	ORPHA:536
HP:0012337	Abnormal homeostasis	6696	SPP1	ORPHA:93552
HP:0012337	Abnormal homeostasis	54899	PXK	ORPHA:536
HP:0012337	Abnormal homeostasis	7128	TNFAIP3	ORPHA:536
HP:0012337	Abnormal homeostasis	4868	NPHS1	ORPHA:656
HP:0012337	Abnormal homeostasis	23607	CD2AP	ORPHA:656
HP:0012337	Abnormal homeostasis	9688	NUP93	ORPHA:656
HP:0012337	Abnormal homeostasis	4643	MYO1E	ORPHA:656
HP:0012337	Abnormal homeostasis	64423	INF2	ORPHA:656
HP:0012337	Abnormal homeostasis	26130	GAPVD1	ORPHA:656
HP:0012337	Abnormal homeostasis	57122	NUP107	ORPHA:656
HP:0012337	Abnormal homeostasis	51479	ANKFY1	ORPHA:656
HP:0012337	Abnormal homeostasis	54443	ANLN	ORPHA:656
HP:0012337	Abnormal homeostasis	5800	PTPRO	ORPHA:656
HP:0012337	Abnormal homeostasis	286204	CRB2	ORPHA:656
HP:0012337	Abnormal homeostasis	23165	NUP205	ORPHA:656
HP:0012337	Abnormal homeostasis	2013	EMP2	ORPHA:656
HP:0012337	Abnormal homeostasis	79023	NUP37	ORPHA:656
HP:0012337	Abnormal homeostasis	51196	PLCE1	ORPHA:656
HP:0012337	Abnormal homeostasis	79902	NUP85	ORPHA:656
HP:0012337	Abnormal homeostasis	1285	COL4A3	ORPHA:656
HP:0012337	Abnormal homeostasis	396	ARHGDIA	ORPHA:656
HP:0012337	Abnormal homeostasis	79934	COQ8B	ORPHA:656
HP:0012337	Abnormal homeostasis	23279	NUP160	ORPHA:656
HP:0012337	Abnormal homeostasis	9863	MAGI2	ORPHA:656
HP:0012337	Abnormal homeostasis	81	ACTN4	ORPHA:656
HP:0012337	Abnormal homeostasis	7225	TRPC6	ORPHA:656
HP:0012337	Abnormal homeostasis	8542	APOL1	ORPHA:656
HP:0012337	Abnormal homeostasis	54885	TBC1D8B	ORPHA:656
HP:0012337	Abnormal homeostasis	7827	NPHS2	ORPHA:656
HP:0012337	Abnormal homeostasis	83478	ARHGAP24	ORPHA:656
HP:0012337	Abnormal homeostasis	23500	DAAM2	ORPHA:656
HP:0012337	Abnormal homeostasis	5076	PAX2	ORPHA:656
HP:0012337	Abnormal homeostasis	55746	NUP133	ORPHA:656
HP:0012337	Abnormal homeostasis	10588	MTHFS	OMIM:618367
HP:0012337	Abnormal homeostasis	3394	IRF8	OMIM:226990
HP:0012337	Abnormal homeostasis	3394	IRF8	OMIM:614893
HP:0012337	Abnormal homeostasis	3394	IRF8	ORPHA:319600
HP:0012337	Abnormal homeostasis	2717	GLA	ORPHA:324
HP:0012337	Abnormal homeostasis	6557	SLC12A1	OMIM:601678
HP:0012337	Abnormal homeostasis	5903	RANBP2	ORPHA:88619
HP:0012337	Abnormal homeostasis	56244	BTNL2	ORPHA:797
HP:0012337	Abnormal homeostasis	55975	KLHL7	OMIM:617055
HP:0012337	Abnormal homeostasis	6711	SPTBN1	OMIM:619475
HP:0012337	Abnormal homeostasis	6023	RMRP	ORPHA:39041
HP:0012337	Abnormal homeostasis	55636	CHD7	ORPHA:39041
HP:0012337	Abnormal homeostasis	3981	LIG4	ORPHA:39041
HP:0012337	Abnormal homeostasis	5896	RAG1	ORPHA:39041
HP:0012337	Abnormal homeostasis	5896	RAG1	ORPHA:331206
HP:0012337	Abnormal homeostasis	5897	RAG2	ORPHA:39041
HP:0012337	Abnormal homeostasis	5897	RAG2	ORPHA:331206
HP:0012337	Abnormal homeostasis	64421	DCLRE1C	ORPHA:39041
HP:0012337	Abnormal homeostasis	100	ADA	ORPHA:39041
HP:0012337	Abnormal homeostasis	3575	IL7R	ORPHA:39041
HP:0012337	Abnormal homeostasis	3575	IL7R	ORPHA:169154
HP:0012337	Abnormal homeostasis	3561	IL2RG	ORPHA:39041
HP:0012337	Abnormal homeostasis	84868	HAVCR2	OMIM:618398
HP:0012337	Abnormal homeostasis	84868	HAVCR2	ORPHA:86884
HP:0012337	Abnormal homeostasis	374879	ZNF699	OMIM:619488
HP:0012337	Abnormal homeostasis	60468	BACH2	OMIM:618394
HP:0012337	Abnormal homeostasis	50485	SMARCAL1	OMIM:242900
HP:0012337	Abnormal homeostasis	5573	PRKAR1A	ORPHA:615
HP:0012337	Abnormal homeostasis	5573	PRKAR1A	ORPHA:520
HP:0012337	Abnormal homeostasis	3988	LIPA	ORPHA:75233
HP:0012337	Abnormal homeostasis	3988	LIPA	OMIM:620151
HP:0012337	Abnormal homeostasis	3554	IL1R1	OMIM:259680
HP:0012337	Abnormal homeostasis	2203	FBP1	OMIM:229700
HP:0012337	Abnormal homeostasis	51371	POMP	OMIM:618048
HP:0012337	Abnormal homeostasis	2624	GATA2	ORPHA:228423
HP:0012337	Abnormal homeostasis	3593	IL12B	ORPHA:3287
HP:0012337	Abnormal homeostasis	6945	MLX	ORPHA:3287
HP:0012337	Abnormal homeostasis	613	BCR	ORPHA:521
HP:0012337	Abnormal homeostasis	25	ABL1	ORPHA:521
HP:0012337	Abnormal homeostasis	861	RUNX1	ORPHA:521
HP:0012337	Abnormal homeostasis	6774	STAT3	ORPHA:520
HP:0012337	Abnormal homeostasis	6774	STAT3	ORPHA:2314
HP:0012337	Abnormal homeostasis	5371	PML	ORPHA:520
HP:0012337	Abnormal homeostasis	5914	RARA	ORPHA:520
HP:0012337	Abnormal homeostasis	359948	IRF2BP2	ORPHA:520
HP:0012337	Abnormal homeostasis	81608	FIP1L1	ORPHA:520
HP:0012337	Abnormal homeostasis	4869	NPM1	ORPHA:520
HP:0012337	Abnormal homeostasis	54880	BCOR	ORPHA:520
HP:0012337	Abnormal homeostasis	64859	NABP1	ORPHA:520
HP:0012337	Abnormal homeostasis	6777	STAT5B	ORPHA:520
HP:0012337	Abnormal homeostasis	4926	NUMA1	ORPHA:520
HP:0012337	Abnormal homeostasis	7704	ZBTB16	ORPHA:520
HP:0012337	Abnormal homeostasis	79718	TBL1XR1	ORPHA:520
HP:0012337	Abnormal homeostasis	7388	UQCRH	OMIM:620137
HP:0012337	Abnormal homeostasis	4067	LYN	OMIM:620376
HP:0012337	Abnormal homeostasis	4613	MYCN	ORPHA:635
HP:0012337	Abnormal homeostasis	238	ALK	ORPHA:635
HP:0012337	Abnormal homeostasis	389421	LIN28B	ORPHA:635
HP:0012337	Abnormal homeostasis	4004	LMO1	ORPHA:635
HP:0012337	Abnormal homeostasis	57531	HACE1	ORPHA:635
HP:0012337	Abnormal homeostasis	144811	LACC1	ORPHA:85414
HP:0012337	Abnormal homeostasis	4282	MIF	ORPHA:85414
HP:0012337	Abnormal homeostasis	3569	IL6	ORPHA:85414
HP:0012337	Abnormal homeostasis	54790	TET2	ORPHA:98849
HP:0012337	Abnormal homeostasis	54790	TET2	ORPHA:824
HP:0012337	Abnormal homeostasis	3815	KIT	ORPHA:98849
HP:0012337	Abnormal homeostasis	6427	SRSF2	ORPHA:98849
HP:0012337	Abnormal homeostasis	4352	MPL	ORPHA:824
HP:0012337	Abnormal homeostasis	4352	MPL	OMIM:254450
HP:0012337	Abnormal homeostasis	2038	EPB42	ORPHA:822
HP:0012337	Abnormal homeostasis	6521	SLC4A1	ORPHA:822
HP:0012337	Abnormal homeostasis	286	ANK1	ORPHA:822
HP:0012337	Abnormal homeostasis	5699	PSMB10	OMIM:619175
HP:0012337	Abnormal homeostasis	23400	ATP13A2	ORPHA:306674
HP:0012337	Abnormal homeostasis	595	CCND1	ORPHA:52416
HP:0012337	Abnormal homeostasis	472	ATM	ORPHA:52416
HP:0012337	Abnormal homeostasis	330	BIRC3	ORPHA:52417
HP:0012337	Abnormal homeostasis	10892	MALT1	ORPHA:52417
HP:0012337	Abnormal homeostasis	27086	FOXP1	ORPHA:52417
HP:0012337	Abnormal homeostasis	8915	BCL10	ORPHA:52417
HP:0012337	Abnormal homeostasis	6340	SCNN1G	ORPHA:60033
HP:0012337	Abnormal homeostasis	1080	CFTR	ORPHA:60033
HP:0012337	Abnormal homeostasis	1080	CFTR	OMIM:167800
HP:0012337	Abnormal homeostasis	6337	SCNN1A	ORPHA:60033
HP:0012337	Abnormal homeostasis	6338	SCNN1B	ORPHA:60033
HP:0012337	Abnormal homeostasis	4519	MT-CYB	ORPHA:137675
HP:0012337	Abnormal homeostasis	7454	WAS	ORPHA:906
HP:0012337	Abnormal homeostasis	7456	WIPF1	ORPHA:906
HP:0012337	Abnormal homeostasis	3115	HLA-DPB1	ORPHA:900
HP:0012337	Abnormal homeostasis	5657	PRTN3	ORPHA:900
HP:0012337	Abnormal homeostasis	3113	HLA-DPA1	ORPHA:900
HP:0012337	Abnormal homeostasis	80704	SLC19A3	OMIM:607483
HP:0012337	Abnormal homeostasis	11330	CTRC	OMIM:167800
HP:0012337	Abnormal homeostasis	5645	PRSS2	OMIM:167800
HP:0012337	Abnormal homeostasis	5644	PRSS1	OMIM:167800
HP:0012337	Abnormal homeostasis	6690	SPINK1	OMIM:167800
HP:0012337	Abnormal homeostasis	23175	LPIN1	OMIM:268200
HP:0012337	Abnormal homeostasis	23175	LPIN1	ORPHA:99845
HP:0012337	Abnormal homeostasis	130340	AP1S3	ORPHA:247353
HP:0012337	Abnormal homeostasis	26525	IL36RN	ORPHA:247353
HP:0012337	Abnormal homeostasis	26525	IL36RN	OMIM:614204
HP:0012337	Abnormal homeostasis	4665	NAB2	ORPHA:2126
HP:0012337	Abnormal homeostasis	6778	STAT6	ORPHA:2126
HP:0012337	Abnormal homeostasis	64135	IFIH1	OMIM:615846
HP:0012337	Abnormal homeostasis	84033	OBSCN	ORPHA:99845
HP:0012337	Abnormal homeostasis	3662	IRF4	ORPHA:3452
HP:0012337	Abnormal homeostasis	11128	POLR3A	ORPHA:3455
HP:0012337	Abnormal homeostasis	695	BTK	ORPHA:47
HP:0012337	Abnormal homeostasis	226	ALDOA	ORPHA:57
HP:0012337	Abnormal homeostasis	10568	SLC34A2	ORPHA:60025
HP:0012337	Abnormal homeostasis	667	DST	OMIM:614653
HP:0012337	Abnormal homeostasis	940	CD28	ORPHA:2584
HP:0012337	Abnormal homeostasis	7133	TNFRSF1B	ORPHA:2584
HP:0012337	Abnormal homeostasis	10878	CFHR3	OMIM:235400
HP:0012337	Abnormal homeostasis	3075	CFH	OMIM:235400
HP:0012337	Abnormal homeostasis	3078	CFHR1	OMIM:235400
HP:0012337	Abnormal homeostasis	2068	ERCC2	ORPHA:910
HP:0012337	Abnormal homeostasis	7507	XPA	ORPHA:910
HP:0012337	Abnormal homeostasis	2071	ERCC3	ORPHA:910
HP:0012337	Abnormal homeostasis	7508	XPC	ORPHA:910
HP:0012337	Abnormal homeostasis	1643	DDB2	ORPHA:910
HP:0012337	Abnormal homeostasis	2073	ERCC5	ORPHA:910
HP:0012337	Abnormal homeostasis	3932	LCK	OMIM:615758
HP:0012337	Abnormal homeostasis	6303	SAT1	ORPHA:93552
HP:0012337	Abnormal homeostasis	23095	KIF1B	OMIM:256700
HP:0012337	Abnormal homeostasis	3350	HTR1A	OMIM:614674
HP:0012337	Abnormal homeostasis	672	BRCA1	ORPHA:70567
HP:0012337	Abnormal homeostasis	5774	PTPN3	ORPHA:70567
HP:0012337	Abnormal homeostasis	6098	ROS1	ORPHA:70567
HP:0012337	Abnormal homeostasis	11093	ADAMTS13	OMIM:274150
HP:0012337	Abnormal homeostasis	9663	LPIN2	ORPHA:77297
HP:0012337	Abnormal homeostasis	915	CD3D	ORPHA:169160
HP:0012337	Abnormal homeostasis	916	CD3E	ORPHA:169160
HP:0012337	Abnormal homeostasis	919	CD247	ORPHA:169160
HP:0012337	Abnormal homeostasis	10320	IKZF1	ORPHA:36426
HP:0012337	Abnormal homeostasis	3758	KCNJ1	OMIM:241200
HP:0012337	Abnormal homeostasis	1376	CPT2	OMIM:614212
HP:0012337	Abnormal homeostasis	1376	CPT2	OMIM:608836
HP:0012337	Abnormal homeostasis	5873	RAB27A	ORPHA:79477
HP:0012337	Abnormal homeostasis	5873	RAB27A	OMIM:607624
HP:0012337	Abnormal homeostasis	773	CACNA1A	OMIM:141500
HP:0012337	Abnormal homeostasis	1589	CYP21A2	OMIM:201910
HP:0012337	Abnormal homeostasis	5167	ENPP1	ORPHA:51608
HP:0012337	Abnormal homeostasis	368	ABCC6	ORPHA:51608
HP:0012337	Abnormal homeostasis	10019	SH2B3	OMIM:254450
HP:0012337	Abnormal homeostasis	2548	GAA	OMIM:232300
HP:0012337	Abnormal homeostasis	51135	IRAK4	ORPHA:70592
HP:0012337	Abnormal homeostasis	5788	PTPRC	OMIM:619924
HP:0012337	Abnormal homeostasis	51816	ADA2	OMIM:615688
HP:0012337	Abnormal homeostasis	1277	COL1A1	ORPHA:1310
HP:0012337	Abnormal homeostasis	1277	COL1A1	OMIM:114000
HP:0012337	Abnormal homeostasis	5294	PIK3CG	OMIM:619802
HP:0012337	Abnormal homeostasis	51081	MRPS7	OMIM:617872
HP:0012337	Abnormal homeostasis	551	AVP	ORPHA:30925
HP:0012337	Abnormal homeostasis	3458	IFNG	OMIM:618963
HP:0012337	Abnormal homeostasis	57410	SCYL1	ORPHA:466794
HP:0012337	Abnormal homeostasis	9451	EIF2AK3	ORPHA:1667
HP:0012337	Abnormal homeostasis	9051	PSTPIP1	ORPHA:69126
HP:0012337	Abnormal homeostasis	1371	CPOX	ORPHA:79273
HP:0012337	Abnormal homeostasis	3145	HMBS	ORPHA:79276
HP:0012337	Abnormal homeostasis	4982	TNFRSF11B	ORPHA:1416
HP:0012337	Abnormal homeostasis	56172	ANKH	ORPHA:1416
HP:0012337	Abnormal homeostasis	525	ATP6V1B1	OMIM:267300
HP:0012337	Abnormal homeostasis	4853	NOTCH2	OMIM:610205
HP:0012337	Abnormal homeostasis	790	CAD	OMIM:616457
HP:0012337	Abnormal homeostasis	9049	AIP	OMIM:219090
HP:0012337	Abnormal homeostasis	9101	USP8	OMIM:219090
HP:0012337	Abnormal homeostasis	1811	SLC26A3	OMIM:214700
HP:0012337	Abnormal homeostasis	162417	NAGS	OMIM:237310
HP:0012337	Abnormal homeostasis	1586	CYP17A1	OMIM:202110
HP:0012337	Abnormal homeostasis	435	ASL	ORPHA:23
HP:0012337	Abnormal homeostasis	435	ASL	OMIM:207900
HP:0012337	Abnormal homeostasis	445	ASS1	OMIM:215700
HP:0012337	Abnormal homeostasis	1373	CPS1	OMIM:237300
HP:0012337	Abnormal homeostasis	10166	SLC25A15	ORPHA:415
HP:0012337	Abnormal homeostasis	8462	KLF11	ORPHA:552
HP:0012337	Abnormal homeostasis	26060	APPL1	ORPHA:552
HP:0012337	Abnormal homeostasis	1056	CEL	ORPHA:552
HP:0012337	Abnormal homeostasis	291	SLC25A4	ORPHA:254892
HP:0012337	Abnormal homeostasis	5428	POLG	ORPHA:254892
HP:0012337	Abnormal homeostasis	56652	TWNK	ORPHA:254892
HP:0012337	Abnormal homeostasis	11232	POLG2	ORPHA:254892
HP:0012337	Abnormal homeostasis	11232	POLG2	OMIM:610131
HP:0012337	Abnormal homeostasis	50484	RRM2B	ORPHA:254892
HP:0012337	Abnormal homeostasis	64324	NSD1	OMIM:117550
HP:0012337	Abnormal homeostasis	116519	APOA5	OMIM:145750
HP:0012337	Abnormal homeostasis	4040	LRP6	OMIM:610947
HP:0012337	Abnormal homeostasis	212	ALAS2	ORPHA:75563
HP:0012337	Abnormal homeostasis	26137	ZBTB20	OMIM:259050
HP:0012337	Abnormal homeostasis	10651	MTX2	OMIM:619127
HP:0012337	Abnormal homeostasis	79798	ARMC5	ORPHA:189427
HP:0012337	Abnormal homeostasis	23028	KDM1A	ORPHA:189427
HP:0012337	Abnormal homeostasis	2778	GNAS	ORPHA:189427
HP:0012337	Abnormal homeostasis	57570	TRMT5	OMIM:616539
HP:0012337	Abnormal homeostasis	30061	SLC40A1	OMIM:606069
HP:0012337	Abnormal homeostasis	5080	PAX6	OMIM:106210
HP:0012337	Abnormal homeostasis	650	BMP2	OMIM:235200
HP:0012337	Abnormal homeostasis	3077	HFE	OMIM:235200
HP:0012337	Abnormal homeostasis	90268	OTULIN	OMIM:617099
HP:0012337	Abnormal homeostasis	8367	H4C5	OMIM:619950
HP:0012337	Abnormal homeostasis	85446	ZFHX2	OMIM:147430
HP:0012337	Abnormal homeostasis	100151683	RNU4ATAC	OMIM:210710
HP:0012337	Abnormal homeostasis	4803	NGF	OMIM:608654
HP:0012337	Abnormal homeostasis	7317	UBA1	OMIM:301054
HP:0012337	Abnormal homeostasis	57511	COG6	ORPHA:363523
HP:0012337	Abnormal homeostasis	9948	WDR1	OMIM:150550
HP:0012337	Abnormal homeostasis	22861	NLRP1	OMIM:617388
HP:0012337	Abnormal homeostasis	81858	SHARPIN	OMIM:620795
HP:0012337	Abnormal homeostasis	7132	TNFRSF1A	ORPHA:32960
HP:0012337	Abnormal homeostasis	7132	TNFRSF1A	OMIM:142680
HP:0012337	Abnormal homeostasis	868	CBLB	OMIM:620430
HP:0012337	Abnormal homeostasis	4068	SH2D1A	OMIM:308240
HP:0012337	Abnormal homeostasis	427	ASAH1	ORPHA:333
HP:0012337	Abnormal homeostasis	427	ASAH1	OMIM:228000
HP:0012337	Abnormal homeostasis	10134	BCAP31	ORPHA:369939
HP:0012337	Abnormal homeostasis	6573	SLC19A1	OMIM:620603
HP:0012337	Abnormal homeostasis	6786	STIM1	OMIM:612783
HP:0012337	Abnormal homeostasis	340061	STING1	OMIM:615934
HP:0012337	Abnormal homeostasis	254428	SLC41A1	OMIM:619468
HP:0012337	Abnormal homeostasis	91039	DPP9	OMIM:620331
HP:0012337	Abnormal homeostasis	80216	ALPK1	OMIM:614979
HP:0012337	Abnormal homeostasis	970	CD70	OMIM:618261
HP:0012337	Abnormal homeostasis	1053	CEBPE	OMIM:260570
HP:0012337	Abnormal homeostasis	3043	HBB	ORPHA:231214
HP:0012337	Abnormal homeostasis	3043	HBB	ORPHA:231226
HP:0012337	Abnormal homeostasis	3702	ITK	OMIM:613011
HP:0012337	Abnormal homeostasis	5190	PEX6	OMIM:614863
HP:0012337	Abnormal homeostasis	5580	PRKCD	OMIM:615559
HP:0012337	Abnormal homeostasis	2643	GCH1	OMIM:233910
HP:0012337	Abnormal homeostasis	718	C3	OMIM:613779
HP:0012337	Abnormal homeostasis	6789	STK4	OMIM:614868
HP:0012337	Abnormal homeostasis	91662	NLRP12	OMIM:611762
HP:0012337	Abnormal homeostasis	55072	RNF31	OMIM:620632
HP:0012337	Abnormal homeostasis	5376	PMP22	ORPHA:98916
HP:0012337	Abnormal homeostasis	91949	COG7	ORPHA:79333
HP:0012337	Abnormal homeostasis	55343	SLC35C1	ORPHA:99843
HP:0012337	Abnormal homeostasis	5805	PTS	OMIM:261640
HP:0012337	Abnormal homeostasis	5966	REL	OMIM:619652
HP:0012337	Abnormal homeostasis	5692	PSMB4	OMIM:617591
HP:0012337	Abnormal homeostasis	506	ATP5F1B	OMIM:620085
HP:0012337	Abnormal homeostasis	6850	SYK	OMIM:619381
HP:0012337	Abnormal homeostasis	5860	QDPR	OMIM:261630
HP:0012337	Abnormal homeostasis	205327	C2orf69	OMIM:619423
HP:0012337	Abnormal homeostasis	8737	RIPK1	OMIM:618852
HP:0012337	Abnormal homeostasis	28985	MCTS1	OMIM:301115
HP:0012337	Abnormal homeostasis	341208	HEPHL1	OMIM:261990
HP:0012337	Abnormal homeostasis	1794	DOCK2	OMIM:616433
HP:0012337	Abnormal homeostasis	5696	PSMB8	OMIM:256040
HP:0012337	Abnormal homeostasis	165918	RNF168	ORPHA:420741
HP:0012337	Abnormal homeostasis	55858	TMEM165	OMIM:614727
HP:0012337	Abnormal homeostasis	10535	RNASEH2A	ORPHA:51
HP:0012337	Abnormal homeostasis	84153	RNASEH2C	ORPHA:51
HP:0012337	Abnormal homeostasis	25939	SAMHD1	ORPHA:51
HP:0012337	Abnormal homeostasis	79621	RNASEH2B	ORPHA:51
HP:0012337	Abnormal homeostasis	103	ADAR	ORPHA:51
HP:0012337	Abnormal homeostasis	134353	LSM11	ORPHA:51
HP:0012337	Abnormal homeostasis	54675	CRLS1	OMIM:620167
HP:0012337	Abnormal homeostasis	7080	NKX2-1	ORPHA:209905
HP:0012337	Abnormal homeostasis	5979	RET	ORPHA:1848
HP:0012337	Abnormal homeostasis	8516	ITGA8	ORPHA:1848
HP:0012337	Abnormal homeostasis	26281	FGF20	ORPHA:1848
HP:0012337	Abnormal homeostasis	2674	GFRA1	ORPHA:1848
HP:0012337	Abnormal homeostasis	7484	WNT9B	ORPHA:1848
HP:0012337	Abnormal homeostasis	80000	GREB1L	ORPHA:1848
HP:0012337	Abnormal homeostasis	4158	MC2R	OMIM:202200
HP:0012337	Abnormal homeostasis	5058	PAK1	OMIM:618158
HP:0012337	Abnormal homeostasis	51703	ACSL5	OMIM:620357
HP:0012337	Abnormal homeostasis	79783	SUGCT	ORPHA:35706
HP:0012337	Abnormal homeostasis	3710	ITPR3	OMIM:222100
HP:0012337	Abnormal homeostasis	513	ATP5F1D	OMIM:618120
HP:0012337	Abnormal homeostasis	1629	DBT	OMIM:620699
HP:0012337	Abnormal homeostasis	9095	TBX19	ORPHA:199296
HP:0012337	Abnormal homeostasis	8925	HERC1	ORPHA:457359
HP:0012337	Abnormal homeostasis	3784	KCNQ1	OMIM:130650
HP:0012337	Abnormal homeostasis	10984	KCNQ1OT1	OMIM:130650
HP:0012337	Abnormal homeostasis	10943	MSL3	OMIM:301032
HP:0012337	Abnormal homeostasis	23152	CIC	OMIM:617600
HP:0012337	Abnormal homeostasis	25885	POLR1A	OMIM:620675
HP:0012337	Abnormal homeostasis	538	ATP7A	ORPHA:198
HP:0012337	Abnormal homeostasis	538	ATP7A	OMIM:309400
HP:0012337	Abnormal homeostasis	538	ATP7A	ORPHA:565
HP:0012337	Abnormal homeostasis	1621	DBH	ORPHA:230
HP:0012337	Abnormal homeostasis	5626	PROP1	ORPHA:226307
HP:0012337	Abnormal homeostasis	89884	LHX4	ORPHA:226307
HP:0012337	Abnormal homeostasis	8022	LHX3	ORPHA:226307
HP:0012337	Abnormal homeostasis	5449	POU1F1	ORPHA:226307
HP:0012337	Abnormal homeostasis	8820	HESX1	ORPHA:226307
HP:0012337	Abnormal homeostasis	5009	OTC	ORPHA:664
HP:0012337	Abnormal homeostasis	7849	PAX8	OMIM:218700
HP:0012337	Abnormal homeostasis	3712	IVD	ORPHA:33
HP:0012337	Abnormal homeostasis	7259	TSPYL1	OMIM:608800
HP:0012337	Abnormal homeostasis	7259	TSPYL1	ORPHA:168593
HP:0012337	Abnormal homeostasis	50506	DUOX2	ORPHA:226316
HP:0012337	Abnormal homeostasis	50506	DUOX2	ORPHA:95716
HP:0012337	Abnormal homeostasis	2555	GABRA2	OMIM:618557
HP:0012337	Abnormal homeostasis	7253	TSHR	ORPHA:90673
HP:0012337	Abnormal homeostasis	7252	TSHB	ORPHA:90674
HP:0012337	Abnormal homeostasis	775	CACNA1C	OMIM:601005
HP:0012337	Abnormal homeostasis	6335	SCN9A	ORPHA:90026
HP:0012337	Abnormal homeostasis	11280	SCN11A	ORPHA:90026
HP:0012337	Abnormal homeostasis	6336	SCN10A	ORPHA:90026
HP:0012337	Abnormal homeostasis	125988	MICOS13	OMIM:618329
HP:0012337	Abnormal homeostasis	388753	COA6	OMIM:616501
HP:0012337	Abnormal homeostasis	405753	DUOXA2	ORPHA:95716
HP:0012337	Abnormal homeostasis	6528	SLC5A5	ORPHA:95716
HP:0012337	Abnormal homeostasis	7038	TG	ORPHA:95716
HP:0012337	Abnormal homeostasis	7173	TPO	ORPHA:95716
HP:0012337	Abnormal homeostasis	389434	IYD	ORPHA:95716
HP:0012337	Abnormal homeostasis	25974	MMACHC	ORPHA:79282
HP:0012337	Abnormal homeostasis	36	ACADSB	OMIM:610006
HP:0012337	Abnormal homeostasis	1716	DGUOK	OMIM:251880
HP:0012337	Abnormal homeostasis	37	ACADVL	ORPHA:26793
HP:0012337	Abnormal homeostasis	4914	NTRK1	ORPHA:642
HP:0012337	Abnormal homeostasis	7386	UQCRFS1	OMIM:618775
HP:0012337	Abnormal homeostasis	57017	COQ9	OMIM:614654
HP:0012337	Abnormal homeostasis	55065	SLC52A1	OMIM:615026
HP:0012337	Abnormal homeostasis	221927	BRAT1	OMIM:614498
HP:0012337	Abnormal homeostasis	93627	TBCK	ORPHA:488632
HP:0012337	Abnormal homeostasis	78987	CRELD1	OMIM:620771
HP:0012337	Abnormal homeostasis	4001	LMNB1	ORPHA:99027
HP:0012337	Abnormal homeostasis	788	SLC25A20	ORPHA:159
HP:0012337	Abnormal homeostasis	7337	UBE3A	ORPHA:98794
HP:0012337	Abnormal homeostasis	7337	UBE3A	ORPHA:98795
HP:0012337	Abnormal homeostasis	7337	UBE3A	ORPHA:411511
HP:0012337	Abnormal homeostasis	4948	OCA2	ORPHA:98794
HP:0012337	Abnormal homeostasis	3939	LDHA	ORPHA:284426
HP:0012337	Abnormal homeostasis	9071	CLDN10	OMIM:617671
HP:0012337	Abnormal homeostasis	84876	ORAI1	OMIM:612782
HP:0012337	Abnormal homeostasis	81607	NECTIN4	OMIM:613573
HP:0012337	Abnormal homeostasis	85358	SHANK3	OMIM:606232
HP:0012337	Abnormal homeostasis	56983	POGLUT1	ORPHA:79145
HP:0012337	Abnormal homeostasis	3852	KRT5	ORPHA:79145
HP:0012337	Abnormal homeostasis	3852	KRT5	ORPHA:79400
HP:0012337	Abnormal homeostasis	23509	POFUT1	ORPHA:79145
HP:0012337	Abnormal homeostasis	55851	PSENEN	ORPHA:79145
HP:0012337	Abnormal homeostasis	3861	KRT14	ORPHA:79400
HP:0012337	Abnormal homeostasis	3861	KRT14	OMIM:161000
HP:0012337	Abnormal homeostasis	3861	KRT14	ORPHA:69087
HP:0012337	Abnormal homeostasis	3190	HNRNPK	ORPHA:352665
HP:0012337	Abnormal homeostasis	3190	HNRNPK	ORPHA:453504
HP:0012337	Abnormal homeostasis	9203	ZMYM3	OMIM:301111
HP:0012337	Abnormal homeostasis	128178	EDARADD	OMIM:129490
HP:0012337	Abnormal homeostasis	128178	EDARADD	OMIM:224900
HP:0012337	Abnormal homeostasis	10913	EDAR	OMIM:129490
HP:0012337	Abnormal homeostasis	10913	EDAR	OMIM:224900
HP:0012337	Abnormal homeostasis	3709	ITPR2	OMIM:106190
HP:0012337	Abnormal homeostasis	59344	ALOXE3	OMIM:606545
HP:0012337	Abnormal homeostasis	5605	MAP2K2	OMIM:615280
HP:0012337	Abnormal homeostasis	10660	LBX1	OMIM:619483
HP:0012337	Abnormal homeostasis	4792	NFKBIA	OMIM:612132
HP:0012337	Abnormal homeostasis	55361	PI4K2A	OMIM:620732
HP:0012337	Abnormal homeostasis	487	ATP2A1	OMIM:601003
HP:0012337	Abnormal homeostasis	4621	MYH3	ORPHA:2053
HP:0012337	Abnormal homeostasis	4621	MYH3	OMIM:193700
HP:0012337	Abnormal homeostasis	259232	NALCN	ORPHA:2053
HP:0012337	Abnormal homeostasis	8518	ELP1	ORPHA:1764
HP:0012337	Abnormal homeostasis	5236	PGM1	OMIM:614921
HP:0012337	Abnormal homeostasis	3339	HSPG2	OMIM:255800
HP:0012337	Abnormal homeostasis	3339	HSPG2	ORPHA:800
HP:0012337	Abnormal homeostasis	6331	SCN5A	OMIM:272120
HP:0012337	Abnormal homeostasis	246329	STAC3	ORPHA:168572
HP:0012337	Abnormal homeostasis	246329	STAC3	OMIM:255995
HP:0012337	Abnormal homeostasis	274	BIN1	ORPHA:169189
HP:0012337	Abnormal homeostasis	64419	MTMR14	ORPHA:169189
HP:0012337	Abnormal homeostasis	4618	MYF6	ORPHA:169189
HP:0012337	Abnormal homeostasis	1785	DNM2	ORPHA:169189
HP:0012337	Abnormal homeostasis	23529	CLCF1	ORPHA:1545
HP:0012337	Abnormal homeostasis	9244	CRLF1	ORPHA:1545
HP:0012337	Abnormal homeostasis	6329	SCN4A	ORPHA:682
HP:0012337	Abnormal homeostasis	83696	TRAPPC9	ORPHA:352530
HP:0012337	Abnormal homeostasis	1134	CHRNA1	OMIM:253290
HP:0012337	Abnormal homeostasis	1146	CHRNG	OMIM:253290
HP:0012337	Abnormal homeostasis	1144	CHRND	OMIM:253290
HP:0012337	Abnormal homeostasis	26154	ABCA12	ORPHA:457
HP:0012337	Abnormal homeostasis	7189	TRAF6	ORPHA:1810
HP:0012337	Abnormal homeostasis	126695	KDF1	ORPHA:1810
HP:0012337	Abnormal homeostasis	9131	AIFM1	ORPHA:238329
HP:0012337	Abnormal homeostasis	9131	AIFM1	OMIM:300816
HP:0012337	Abnormal homeostasis	4702	NDUFA8	OMIM:619272
HP:0012337	Abnormal homeostasis	4570	MT-TN	OMIM:220110
HP:0012337	Abnormal homeostasis	4570	MT-TN	ORPHA:663
HP:0012337	Abnormal homeostasis	6834	SURF1	OMIM:220110
HP:0012337	Abnormal homeostasis	6834	SURF1	OMIM:616684
HP:0012337	Abnormal homeostasis	10059	DNM1L	OMIM:614388
HP:0012337	Abnormal homeostasis	10059	DNM1L	ORPHA:330050
HP:0012337	Abnormal homeostasis	400916	CHCHD10	OMIM:616209
HP:0012337	Abnormal homeostasis	400916	CHCHD10	ORPHA:457050
HP:0012337	Abnormal homeostasis	123263	MTFMT	OMIM:614947
HP:0012337	Abnormal homeostasis	10667	FARS2	OMIM:614946
HP:0012337	Abnormal homeostasis	80222	TARS2	OMIM:615918
HP:0012337	Abnormal homeostasis	51218	GLRX5	ORPHA:401866
HP:0012337	Abnormal homeostasis	51218	GLRX5	OMIM:616859
HP:0012337	Abnormal homeostasis	65993	MRPS34	OMIM:617664
HP:0012337	Abnormal homeostasis	5917	RARS1	ORPHA:438114
HP:0012337	Abnormal homeostasis	387787	LIPT2	OMIM:617668
HP:0012337	Abnormal homeostasis	1841	DTYMK	OMIM:619847
HP:0012337	Abnormal homeostasis	10730	YME1L1	OMIM:617302
HP:0012337	Abnormal homeostasis	271	AMPD2	OMIM:615809
HP:0012337	Abnormal homeostasis	1353	COX11	OMIM:620275
HP:0012337	Abnormal homeostasis	87178	PNPT1	ORPHA:319514
HP:0012337	Abnormal homeostasis	87178	PNPT1	OMIM:614932
HP:0012337	Abnormal homeostasis	4718	NDUFC2	OMIM:619170
HP:0012337	Abnormal homeostasis	55687	TRMU	OMIM:613070
HP:0012337	Abnormal homeostasis	1351	COX8A	OMIM:619059
HP:0012337	Abnormal homeostasis	116228	COX20	OMIM:619054
HP:0012337	Abnormal homeostasis	1020	CDK5	OMIM:616342
HP:0012337	Abnormal homeostasis	55157	DARS2	ORPHA:137898
HP:0012337	Abnormal homeostasis	1339	COX6A2	OMIM:619062
HP:0012337	Abnormal homeostasis	100303755	PET117	OMIM:619063
HP:0012337	Abnormal homeostasis	9377	COX5A	OMIM:619064
HP:0012337	Abnormal homeostasis	1327	COX4I1	OMIM:619060
HP:0012337	Abnormal homeostasis	54968	TMEM70	OMIM:614052
HP:0012337	Abnormal homeostasis	4565	MT-TI	OMIM:545000
HP:0012337	Abnormal homeostasis	4571	MT-TP	OMIM:545000
HP:0012337	Abnormal homeostasis	5442	POLRMT	OMIM:619743
HP:0012337	Abnormal homeostasis	39	ACAT2	OMIM:614055
HP:0012337	Abnormal homeostasis	64121	RRAGC	OMIM:620609
HP:0012337	Abnormal homeostasis	246243	RNASEH1	OMIM:616479
HP:0012337	Abnormal homeostasis	10352	WARS2	ORPHA:572798
HP:0012337	Abnormal homeostasis	10352	WARS2	OMIM:617710
HP:0012337	Abnormal homeostasis	284439	SLC25A42	OMIM:618416
HP:0012337	Abnormal homeostasis	84947	SERAC1	OMIM:614739
HP:0012337	Abnormal homeostasis	28976	ACAD9	ORPHA:99901
HP:0012337	Abnormal homeostasis	3735	KARS1	OMIM:619196
HP:0012337	Abnormal homeostasis	3735	KARS1	OMIM:619147
HP:0012337	Abnormal homeostasis	5091	PC	OMIM:266150
HP:0012337	Abnormal homeostasis	65080	MRPL44	OMIM:615395
HP:0012337	Abnormal homeostasis	27089	UQCRQ	OMIM:615159
HP:0012337	Abnormal homeostasis	51660	MPC1	OMIM:614741
HP:0012337	Abnormal homeostasis	1593	CYP27A1	ORPHA:909
HP:0012337	Abnormal homeostasis	92609	TIMM50	OMIM:617698
HP:0012337	Abnormal homeostasis	92609	TIMM50	ORPHA:505216
HP:0012337	Abnormal homeostasis	90624	LYRM7	OMIM:615838
HP:0012337	Abnormal homeostasis	55210	ATAD3A	ORPHA:496790
HP:0012337	Abnormal homeostasis	55210	ATAD3A	OMIM:618810
HP:0012337	Abnormal homeostasis	55210	ATAD3A	OMIM:617183
HP:0012337	Abnormal homeostasis	25828	TXN2	ORPHA:478029
HP:0012337	Abnormal homeostasis	25828	TXN2	OMIM:616811
HP:0012337	Abnormal homeostasis	4285	MIPEP	OMIM:617228
HP:0012337	Abnormal homeostasis	10531	PITRM1	OMIM:619405
HP:0012337	Abnormal homeostasis	270	AMPD1	ORPHA:45
HP:0012337	Abnormal homeostasis	272	AMPD3	ORPHA:45
HP:0012337	Abnormal homeostasis	55739	NAXD	OMIM:618321
HP:0012337	Abnormal homeostasis	8565	YARS1	OMIM:619418
HP:0012337	Abnormal homeostasis	54148	MRPL39	OMIM:620646
HP:0012337	Abnormal homeostasis	1384	CRAT	OMIM:617917
HP:0012337	Abnormal homeostasis	91574	MTRFR	OMIM:613559
HP:0012337	Abnormal homeostasis	3954	LETM1	OMIM:620089
HP:0012337	Abnormal homeostasis	23479	ISCU	OMIM:255125
HP:0012337	Abnormal homeostasis	1892	ECHS1	OMIM:616277
HP:0012337	Abnormal homeostasis	51117	COQ4	OMIM:616276
HP:0012337	Abnormal homeostasis	51067	YARS2	OMIM:613561
HP:0012337	Abnormal homeostasis	27429	HTRA2	OMIM:617248
HP:0012337	Abnormal homeostasis	3329	HSPD1	OMIM:612233
HP:0012337	Abnormal homeostasis	4728	NDUFS8	OMIM:618222
HP:0012337	Abnormal homeostasis	4568	MT-TL2	ORPHA:663
HP:0012337	Abnormal homeostasis	6647	SOD1	OMIM:618598
HP:0012337	Abnormal homeostasis	79587	CARS2	ORPHA:477774
HP:0012337	Abnormal homeostasis	79587	CARS2	OMIM:616672
HP:0012337	Abnormal homeostasis	126328	NDUFA11	OMIM:618236
HP:0012337	Abnormal homeostasis	8867	SYNJ1	OMIM:617389
HP:0012337	Abnormal homeostasis	51601	LIPT1	OMIM:616299
HP:0012337	Abnormal homeostasis	4722	NDUFS3	OMIM:618230
HP:0012337	Abnormal homeostasis	8492	PRSS12	OMIM:249500
HP:0012337	Abnormal homeostasis	4694	NDUFA1	OMIM:301020
HP:0012337	Abnormal homeostasis	55967	NDUFA12	OMIM:618244
HP:0012337	Abnormal homeostasis	84340	GFM2	ORPHA:565624
HP:0012337	Abnormal homeostasis	84340	GFM2	OMIM:618397
HP:0012337	Abnormal homeostasis	4715	NDUFB9	OMIM:618245
HP:0012337	Abnormal homeostasis	51116	MRPS2	OMIM:617950
HP:0012337	Abnormal homeostasis	9512	PMPCB	OMIM:617954
HP:0012337	Abnormal homeostasis	51079	NDUFA13	OMIM:618249
HP:0012337	Abnormal homeostasis	708	C1QBP	OMIM:617713
HP:0012337	Abnormal homeostasis	9361	LONP1	ORPHA:79243
HP:0012337	Abnormal homeostasis	55750	AGK	OMIM:212350
HP:0012337	Abnormal homeostasis	54704	PDP1	ORPHA:79246
HP:0012337	Abnormal homeostasis	91647	ATPAF2	OMIM:604273
HP:0012337	Abnormal homeostasis	8604	SLC25A12	OMIM:612949
HP:0012337	Abnormal homeostasis	9056	SLC7A7	OMIM:222700
HP:0012337	Abnormal homeostasis	80324	PUS1	OMIM:600462
HP:0012337	Abnormal homeostasis	112812	FDX2	OMIM:251900
HP:0012337	Abnormal homeostasis	6390	SDHB	OMIM:619224
HP:0012337	Abnormal homeostasis	63931	MRPS14	OMIM:618378
HP:0012337	Abnormal homeostasis	84705	GTPBP3	OMIM:616198
HP:0012337	Abnormal homeostasis	6773	STAT2	OMIM:616636
HP:0012337	Abnormal homeostasis	27010	TPK1	OMIM:614458
HP:0012337	Abnormal homeostasis	79736	TEFM	OMIM:620451
HP:0012337	Abnormal homeostasis	2998	GYS2	OMIM:240600
HP:0012337	Abnormal homeostasis	11019	LIAS	OMIM:614462
HP:0012337	Abnormal homeostasis	81689	ISCA1	OMIM:617613
HP:0012337	Abnormal homeostasis	31	ACACA	OMIM:613933
HP:0012337	Abnormal homeostasis	128240	NAXE	OMIM:617186
HP:0012337	Abnormal homeostasis	6182	MRPL12	OMIM:618951
HP:0012337	Abnormal homeostasis	7084	TK2	OMIM:617069
HP:0012337	Abnormal homeostasis	4976	OPA1	OMIM:616896
HP:0012337	Abnormal homeostasis	5261	PHKG2	OMIM:613027
HP:0012337	Abnormal homeostasis	57038	RARS2	OMIM:611523
HP:0012337	Abnormal homeostasis	498	ATP5F1A	OMIM:620358
HP:0012337	Abnormal homeostasis	63899	NSUN3	OMIM:619012
HP:0012337	Abnormal homeostasis	119559	SFXN4	OMIM:615578
HP:0012337	Abnormal homeostasis	131118	DNAJC19	ORPHA:66634
HP:0012337	Abnormal homeostasis	2806	GOT2	OMIM:618721
HP:0012337	Abnormal homeostasis	55005	RMND1	OMIM:614922
HP:0012337	Abnormal homeostasis	124454	EARS2	OMIM:614924
HP:0012337	Abnormal homeostasis	84842	HPDL	OMIM:619026
HP:0012337	Abnormal homeostasis	1468	SLC25A10	OMIM:618972
HP:0012337	Abnormal homeostasis	29928	TIMM22	OMIM:618851
HP:0012337	Abnormal homeostasis	115286	SLC25A26	OMIM:616794
HP:0012337	Abnormal homeostasis	8803	SUCLA2	OMIM:612073
HP:0012337	Abnormal homeostasis	22868	FASTKD2	OMIM:618855
HP:0012337	Abnormal homeostasis	54938	SARS2	OMIM:613845
HP:0012337	Abnormal homeostasis	50640	PNPLA8	OMIM:251950
HP:0012337	Abnormal homeostasis	6770	STAR	ORPHA:361
HP:0012337	Abnormal homeostasis	23126	POGZ	OMIM:616364
HP:0012337	Abnormal homeostasis	6611	SMS	ORPHA:3063
HP:0012337	Abnormal homeostasis	3785	KCNQ2	ORPHA:439218
HP:0012337	Abnormal homeostasis	51692	CPSF3	OMIM:619876
HP:0012337	Abnormal homeostasis	112476	PRRT2	ORPHA:569
HP:0012337	Abnormal homeostasis	6323	SCN1A	ORPHA:569
HP:0012337	Abnormal homeostasis	51163	DBR1	OMIM:620510
HP:0012337	Abnormal homeostasis	3908	LAMA2	ORPHA:258
HP:0012337	Abnormal homeostasis	2294	FOXF1	OMIM:265380
HP:0012337	Abnormal homeostasis	51422	PRKAG2	OMIM:261740
HP:0012337	Abnormal homeostasis	1776	DNASE1L3	ORPHA:36412
HP:0012337	Abnormal homeostasis	440275	EIF2AK4	ORPHA:199241
HP:0012337	Abnormal homeostasis	10203	CALCRL	OMIM:618773
HP:0012337	Abnormal homeostasis	3426	CFI	ORPHA:244242
HP:0012337	Abnormal homeostasis	4179	CD46	ORPHA:244242
HP:0012337	Abnormal homeostasis	101101692	HELLPAR	ORPHA:244242
HP:0012337	Abnormal homeostasis	8314	BAP1	ORPHA:50251
HP:0012337	Abnormal homeostasis	2492	FSHR	ORPHA:64739
HP:0012337	Abnormal homeostasis	4552	MTRR	OMIM:236270
HP:0012337	Abnormal homeostasis	55788	LMBRD1	OMIM:277380
HP:0012337	Abnormal homeostasis	3054	HCFC1	OMIM:309541
HP:0012337	Abnormal homeostasis	51293	CD320	OMIM:613646
HP:0012337	Abnormal homeostasis	5826	ABCD4	OMIM:614857
HP:0012337	Abnormal homeostasis	27249	MMADHC	OMIM:277410
HP:0012337	Abnormal homeostasis	2737	GLI3	OMIM:175700
HP:0012337	Abnormal homeostasis	3795	KHK	ORPHA:2056
HP:0012337	Abnormal homeostasis	27125	AFF4	ORPHA:444077
HP:0012337	Abnormal homeostasis	9149	DYRK1B	OMIM:615812
HP:0012337	Abnormal homeostasis	9699	RIMS2	OMIM:618970
HP:0012337	Abnormal homeostasis	25915	NDUFAF3	ORPHA:2609
HP:0012337	Abnormal homeostasis	25915	NDUFAF3	OMIM:618240
HP:0012337	Abnormal homeostasis	91942	NDUFAF2	ORPHA:2609
HP:0012337	Abnormal homeostasis	51300	TIMMDC1	ORPHA:2609
HP:0012337	Abnormal homeostasis	55572	FOXRED1	ORPHA:2609
HP:0012337	Abnormal homeostasis	55572	FOXRED1	OMIM:618241
HP:0012337	Abnormal homeostasis	4729	NDUFV2	ORPHA:2609
HP:0012337	Abnormal homeostasis	4729	NDUFV2	OMIM:618229
HP:0012337	Abnormal homeostasis	4726	NDUFS6	ORPHA:2609
HP:0012337	Abnormal homeostasis	4726	NDUFS6	OMIM:618232
HP:0012337	Abnormal homeostasis	79133	NDUFAF5	ORPHA:2609
HP:0012337	Abnormal homeostasis	79133	NDUFAF5	OMIM:618238
HP:0012337	Abnormal homeostasis	4709	NDUFB3	ORPHA:2609
HP:0012337	Abnormal homeostasis	4709	NDUFB3	OMIM:618246
HP:0012337	Abnormal homeostasis	80224	NUBPL	ORPHA:2609
HP:0012337	Abnormal homeostasis	1355	COX15	OMIM:615119
HP:0012337	Abnormal homeostasis	84334	COA8	ORPHA:436271
HP:0012337	Abnormal homeostasis	57176	VARS2	OMIM:615917
HP:0012337	Abnormal homeostasis	4141	MARS1	OMIM:615486
HP:0012337	Abnormal homeostasis	6392	SDHD	OMIM:619167
HP:0012337	Abnormal homeostasis	23474	ETHE1	ORPHA:51188
HP:0012337	Abnormal homeostasis	23474	ETHE1	OMIM:602473
HP:0012337	Abnormal homeostasis	1890	TYMP	ORPHA:298
HP:0012337	Abnormal homeostasis	1890	TYMP	OMIM:603041
HP:0012337	Abnormal homeostasis	3980	LIG3	ORPHA:298
HP:0012337	Abnormal homeostasis	4511	MT-TC	OMIM:540000
HP:0012337	Abnormal homeostasis	4509	MT-ATP8	ORPHA:254913
HP:0012337	Abnormal homeostasis	514	ATP5F1E	ORPHA:254913
HP:0012337	Abnormal homeostasis	514	ATP5F1E	OMIM:614053
HP:0012337	Abnormal homeostasis	84833	ATP5MK	ORPHA:254913
HP:0012337	Abnormal homeostasis	2538	G6PC1	OMIM:232200
HP:0012337	Abnormal homeostasis	501	ALDH7A1	ORPHA:3006
HP:0012337	Abnormal homeostasis	23203	PMPCA	ORPHA:1170
HP:0012337	Abnormal homeostasis	4697	NDUFA4	OMIM:619065
HP:0012337	Abnormal homeostasis	388962	BOLA3	OMIM:614299
HP:0012337	Abnormal homeostasis	593	BCKDHA	OMIM:248600
HP:0012337	Abnormal homeostasis	4576	MT-TT	OMIM:551000
HP:0012337	Abnormal homeostasis	1737	DLAT	OMIM:245348
HP:0012337	Abnormal homeostasis	10165	SLC25A13	ORPHA:247598
HP:0012337	Abnormal homeostasis	5256	PHKA2	ORPHA:264580
HP:0012337	Abnormal homeostasis	5256	PHKA2	OMIM:306000
HP:0012337	Abnormal homeostasis	2671	GFER	ORPHA:330054
HP:0012337	Abnormal homeostasis	26007	TKFC	ORPHA:1369
HP:0012337	Abnormal homeostasis	26007	TKFC	OMIM:618805
HP:0012337	Abnormal homeostasis	27235	COQ2	OMIM:607426
HP:0012337	Abnormal homeostasis	11274	USP18	OMIM:617397
HP:0012337	Abnormal homeostasis	5257	PHKB	ORPHA:79240
HP:0012337	Abnormal homeostasis	58472	SQOR	OMIM:619221
HP:0012337	Abnormal homeostasis	51095	TRNT1	OMIM:616084
HP:0012337	Abnormal homeostasis	51520	LARS1	OMIM:615438
HP:0012337	Abnormal homeostasis	5162	PDHB	ORPHA:255138
HP:0012337	Abnormal homeostasis	5162	PDHB	OMIM:614111
HP:0012337	Abnormal homeostasis	60528	ELAC2	OMIM:615440
HP:0012337	Abnormal homeostasis	55278	QRSL1	OMIM:618835
HP:0012337	Abnormal homeostasis	5188	GATB	OMIM:618838
HP:0012337	Abnormal homeostasis	3033	HADH	ORPHA:71212
HP:0012337	Abnormal homeostasis	3030	HADHA	OMIM:609015
HP:0012337	Abnormal homeostasis	283459	GATC	OMIM:618839
HP:0012337	Abnormal homeostasis	5495	PPM1B	ORPHA:163693
HP:0012337	Abnormal homeostasis	6519	SLC3A1	ORPHA:163693
HP:0012337	Abnormal homeostasis	9581	PREPL	ORPHA:163693
HP:0012337	Abnormal homeostasis	79823	CAMKMT	ORPHA:163693
HP:0012337	Abnormal homeostasis	4713	NDUFB7	OMIM:620135
HP:0012337	Abnormal homeostasis	6505	SLC1A1	OMIM:222730
HP:0012337	Abnormal homeostasis	79048	SECISBP2	ORPHA:171706
HP:0012337	Abnormal homeostasis	9620	CELSR1	OMIM:619319
HP:0012337	Abnormal homeostasis	1185	CLCN6	OMIM:619173
HP:0012337	Abnormal homeostasis	403	ARL3	OMIM:618161
HP:0012337	Abnormal homeostasis	51360	MBTPS2	ORPHA:2273
HP:0012337	Abnormal homeostasis	8567	MADD	OMIM:619004
HP:0012337	Abnormal homeostasis	3977	LIFR	OMIM:601559
HP:0012337	Abnormal homeostasis	54681	P4HTM	OMIM:618493
HP:0012337	Abnormal homeostasis	8929	PHOX2B	OMIM:209880
HP:0012337	Abnormal homeostasis	84818	IL17RC	ORPHA:1334
HP:0012337	Abnormal homeostasis	64581	CLEC7A	ORPHA:1334
HP:0012337	Abnormal homeostasis	23765	IL17RA	ORPHA:1334
HP:0012337	Abnormal homeostasis	10758	TRAF3IP2	ORPHA:1334
HP:0012337	Abnormal homeostasis	112744	IL17F	ORPHA:1334
HP:0012337	Abnormal homeostasis	4287	ATXN3	ORPHA:276238
HP:0012337	Abnormal homeostasis	4287	ATXN3	ORPHA:276244
HP:0012337	Abnormal homeostasis	4287	ATXN3	ORPHA:276241
HP:0012337	Abnormal homeostasis	1161	ERCC8	ORPHA:90321
HP:0012337	Abnormal homeostasis	2072	ERCC4	ORPHA:90321
HP:0012337	Abnormal homeostasis	2074	ERCC6	ORPHA:90321
HP:0012337	Abnormal homeostasis	6926	TBX3	ORPHA:3138
HP:0012337	Abnormal homeostasis	10312	TCIRG1	ORPHA:667
HP:0012337	Abnormal homeostasis	1186	CLCN7	ORPHA:667
HP:0012337	Abnormal homeostasis	29887	SNX10	ORPHA:667
HP:0012337	Abnormal homeostasis	8600	TNFSF11	ORPHA:667
HP:0012337	Abnormal homeostasis	4556	MT-TE	ORPHA:254864
HP:0012337	Abnormal homeostasis	388015	RTL1	ORPHA:96184
HP:0012337	Abnormal homeostasis	388015	RTL1	ORPHA:254531
HP:0012337	Abnormal homeostasis	8788	DLK1	ORPHA:96184
HP:0012337	Abnormal homeostasis	8788	DLK1	ORPHA:254531
HP:0012337	Abnormal homeostasis	55384	MEG3	ORPHA:96184
HP:0012337	Abnormal homeostasis	55384	MEG3	ORPHA:254531
HP:0012337	Abnormal homeostasis	5092	PCBD1	ORPHA:1578
HP:0012337	Abnormal homeostasis	3858	KRT10	OMIM:620707
HP:0012337	Abnormal homeostasis	65266	WNK4	OMIM:614491
HP:0012337	Abnormal homeostasis	26249	KLHL3	OMIM:614495
HP:0012337	Abnormal homeostasis	5053	PAH	OMIM:261600
HP:0012337	Abnormal homeostasis	5105	PCK1	OMIM:261680
HP:0012337	Abnormal homeostasis	6584	SLC22A5	OMIM:212140
HP:0012337	Abnormal homeostasis	5106	PCK2	OMIM:261650
HP:0012337	Abnormal homeostasis	283446	MYO1H	OMIM:619482
HP:0012337	Abnormal homeostasis	440138	ALG11	ORPHA:280071
HP:0012337	Abnormal homeostasis	440138	ALG11	OMIM:613661
HP:0012337	Abnormal homeostasis	6571	SLC18A2	OMIM:618049
HP:0012337	Abnormal homeostasis	55823	VPS11	OMIM:616683
HP:0012337	Abnormal homeostasis	2260	FGFR1	ORPHA:220386
HP:0012337	Abnormal homeostasis	2260	FGFR1	ORPHA:93924
HP:0012337	Abnormal homeostasis	28514	DLL1	ORPHA:220386
HP:0012337	Abnormal homeostasis	28514	DLL1	ORPHA:93926
HP:0012337	Abnormal homeostasis	28514	DLL1	ORPHA:93924
HP:0012337	Abnormal homeostasis	28514	DLL1	ORPHA:93925
HP:0012337	Abnormal homeostasis	10735	STAG2	ORPHA:220386
HP:0012337	Abnormal homeostasis	10735	STAG2	ORPHA:93925
HP:0012337	Abnormal homeostasis	2253	FGF8	ORPHA:220386
HP:0012337	Abnormal homeostasis	2253	FGF8	ORPHA:93926
HP:0012337	Abnormal homeostasis	2253	FGF8	ORPHA:93924
HP:0012337	Abnormal homeostasis	2253	FGF8	ORPHA:93925
HP:0012337	Abnormal homeostasis	8243	SMC1A	ORPHA:220386
HP:0012337	Abnormal homeostasis	6496	SIX3	ORPHA:220386
HP:0012337	Abnormal homeostasis	6496	SIX3	ORPHA:93926
HP:0012337	Abnormal homeostasis	6496	SIX3	ORPHA:93924
HP:0012337	Abnormal homeostasis	6496	SIX3	ORPHA:93925
HP:0012337	Abnormal homeostasis	7050	TGIF1	ORPHA:220386
HP:0012337	Abnormal homeostasis	7050	TGIF1	ORPHA:93926
HP:0012337	Abnormal homeostasis	7050	TGIF1	ORPHA:93924
HP:0012337	Abnormal homeostasis	7050	TGIF1	ORPHA:93925
HP:0012337	Abnormal homeostasis	4838	NODAL	ORPHA:220386
HP:0012337	Abnormal homeostasis	4838	NODAL	ORPHA:93926
HP:0012337	Abnormal homeostasis	4838	NODAL	ORPHA:93924
HP:0012337	Abnormal homeostasis	4838	NODAL	ORPHA:93925
HP:0012337	Abnormal homeostasis	6469	SHH	ORPHA:220386
HP:0012337	Abnormal homeostasis	6469	SHH	ORPHA:93926
HP:0012337	Abnormal homeostasis	6469	SHH	ORPHA:93924
HP:0012337	Abnormal homeostasis	6469	SHH	ORPHA:93925
HP:0012337	Abnormal homeostasis	7546	ZIC2	ORPHA:220386
HP:0012337	Abnormal homeostasis	7546	ZIC2	ORPHA:93926
HP:0012337	Abnormal homeostasis	7546	ZIC2	ORPHA:93924
HP:0012337	Abnormal homeostasis	7546	ZIC2	ORPHA:93925
HP:0012337	Abnormal homeostasis	6491	STIL	ORPHA:220386
HP:0012337	Abnormal homeostasis	6491	STIL	ORPHA:93926
HP:0012337	Abnormal homeostasis	6491	STIL	ORPHA:93924
HP:0012337	Abnormal homeostasis	6491	STIL	ORPHA:93925
HP:0012337	Abnormal homeostasis	2619	GAS1	ORPHA:220386
HP:0012337	Abnormal homeostasis	2619	GAS1	ORPHA:93926
HP:0012337	Abnormal homeostasis	2619	GAS1	ORPHA:93924
HP:0012337	Abnormal homeostasis	2619	GAS1	ORPHA:93925
HP:0012337	Abnormal homeostasis	84976	DISP1	ORPHA:220386
HP:0012337	Abnormal homeostasis	84976	DISP1	ORPHA:93926
HP:0012337	Abnormal homeostasis	84976	DISP1	ORPHA:93924
HP:0012337	Abnormal homeostasis	84976	DISP1	ORPHA:93925
HP:0012337	Abnormal homeostasis	2736	GLI2	ORPHA:220386
HP:0012337	Abnormal homeostasis	2736	GLI2	ORPHA:93926
HP:0012337	Abnormal homeostasis	2736	GLI2	ORPHA:93924
HP:0012337	Abnormal homeostasis	2736	GLI2	ORPHA:93925
HP:0012337	Abnormal homeostasis	8928	FOXH1	ORPHA:220386
HP:0012337	Abnormal homeostasis	8928	FOXH1	ORPHA:93926
HP:0012337	Abnormal homeostasis	8928	FOXH1	ORPHA:93924
HP:0012337	Abnormal homeostasis	8928	FOXH1	ORPHA:93925
HP:0012337	Abnormal homeostasis	6997	CRIPTO	ORPHA:220386
HP:0012337	Abnormal homeostasis	6997	CRIPTO	ORPHA:93926
HP:0012337	Abnormal homeostasis	6997	CRIPTO	ORPHA:93924
HP:0012337	Abnormal homeostasis	6997	CRIPTO	ORPHA:93925
HP:0012337	Abnormal homeostasis	5727	PTCH1	ORPHA:220386
HP:0012337	Abnormal homeostasis	5727	PTCH1	ORPHA:93926
HP:0012337	Abnormal homeostasis	5727	PTCH1	ORPHA:93924
HP:0012337	Abnormal homeostasis	5727	PTCH1	ORPHA:93925
HP:0012337	Abnormal homeostasis	50937	CDON	ORPHA:220386
HP:0012337	Abnormal homeostasis	50937	CDON	ORPHA:93926
HP:0012337	Abnormal homeostasis	50937	CDON	ORPHA:93924
HP:0012337	Abnormal homeostasis	50937	CDON	ORPHA:93925
HP:0012337	Abnormal homeostasis	1317	SLC31A1	OMIM:620306
HP:0012337	Abnormal homeostasis	54551	MAGEL2	ORPHA:398069
HP:0012337	Abnormal homeostasis	54551	MAGEL2	OMIM:176270
HP:0012337	Abnormal homeostasis	55164	SHQ1	OMIM:619922
HP:0012337	Abnormal homeostasis	23007	PLCH1	ORPHA:93925
HP:0012337	Abnormal homeostasis	1644	DDC	OMIM:608643
HP:0012337	Abnormal homeostasis	2581	GALC	ORPHA:206436
HP:0012337	Abnormal homeostasis	5660	PSAP	ORPHA:206436
HP:0012337	Abnormal homeostasis	8398	PLA2G6	ORPHA:35069
HP:0012337	Abnormal homeostasis	60386	SLC25A19	ORPHA:99742
HP:0012337	Abnormal homeostasis	100033413	SNORD116-1	OMIM:176270
HP:0012337	Abnormal homeostasis	8924	HERC2	OMIM:176270
HP:0012337	Abnormal homeostasis	23742	NPAP1	OMIM:176270
HP:0012337	Abnormal homeostasis	338433	SNORD115-1	OMIM:176270
HP:0012337	Abnormal homeostasis	7681	MKRN3	OMIM:176270
HP:0012337	Abnormal homeostasis	145624	PWAR1	OMIM:176270
HP:0012337	Abnormal homeostasis	3653	IPW	OMIM:176270
HP:0012337	Abnormal homeostasis	791114	PWRN1	OMIM:176270
HP:0012337	Abnormal homeostasis	6697	SPR	ORPHA:70594
HP:0012337	Abnormal homeostasis	3675	ITGA3	OMIM:614748
HP:0012337	Abnormal homeostasis	5019	OXCT1	OMIM:245050
HP:0012337	Abnormal homeostasis	6473	SHOX	ORPHA:314795
HP:0012337	Abnormal homeostasis	27130	INVS	OMIM:602088
HP:0012337	Abnormal homeostasis	63036	CELA2A	OMIM:618620
HP:0012337	Abnormal homeostasis	10908	PNPLA6	ORPHA:2377
HP:0012337	Abnormal homeostasis	23600	AMACR	ORPHA:79095
HP:0012337	Abnormal homeostasis	5422	POLA1	ORPHA:163976
HP:0012337	Abnormal homeostasis	1786	DNMT1	OMIM:604121
HP:0012337	Abnormal homeostasis	2200	FBN1	ORPHA:2833
HP:0012337	Abnormal homeostasis	10273	STUB1	ORPHA:412057
HP:0012337	Abnormal homeostasis	847	CAT	ORPHA:926
HP:0012337	Abnormal homeostasis	4340	MOG	OMIM:614250
HP:0012337	Abnormal homeostasis	833	CARS1	OMIM:618891
HP:0012337	Abnormal homeostasis	64788	LMF1	OMIM:246650
HP:0012337	Abnormal homeostasis	5333	PLCD1	ORPHA:2387
HP:0012337	Abnormal homeostasis	5116	PCNT	OMIM:210720
HP:0012337	Abnormal homeostasis	25942	SIN3A	OMIM:613406
HP:0012337	Abnormal homeostasis	7873	MANF	OMIM:620651
HP:0012337	Abnormal homeostasis	5192	PEX10	ORPHA:247815
HP:0012337	Abnormal homeostasis	686	BTD	OMIM:253260
HP:0012337	Abnormal homeostasis	686	BTD	ORPHA:79241
HP:0012337	Abnormal homeostasis	4638	MYLK	OMIM:249210
HP:0012337	Abnormal homeostasis	285489	DOK7	OMIM:618389
HP:0012337	Abnormal homeostasis	9722	NOS1AP	OMIM:619155
HP:0012337	Abnormal homeostasis	54916	TMEM260	OMIM:617478
HP:0012337	Abnormal homeostasis	26227	PHGDH	OMIM:256520
HP:0012337	Abnormal homeostasis	58	ACTA1	ORPHA:171430
HP:0012337	Abnormal homeostasis	4703	NEB	ORPHA:171430
HP:0012337	Abnormal homeostasis	131377	KLHL40	ORPHA:171430
HP:0012337	Abnormal homeostasis	10324	KLHL41	ORPHA:171430
HP:0012337	Abnormal homeostasis	56203	LMOD3	ORPHA:171430
HP:0012337	Abnormal homeostasis	9373	PLAA	ORPHA:521426
HP:0012337	Abnormal homeostasis	9373	PLAA	OMIM:617527
HP:0012337	Abnormal homeostasis	11342	RNF13	ORPHA:544503
HP:0012337	Abnormal homeostasis	9939	RBM8A	OMIM:274000
HP:0012337	Abnormal homeostasis	5651	TMPRSS15	OMIM:226200
HP:0012337	Abnormal homeostasis	367	AR	ORPHA:90797
HP:0012337	Abnormal homeostasis	7555	CNBP	OMIM:602668
HP:0012337	Abnormal homeostasis	7555	CNBP	ORPHA:606
HP:0012337	Abnormal homeostasis	60676	PAPPA2	OMIM:619489
HP:0012337	Abnormal homeostasis	199857	ALG14	OMIM:619036
HP:0012337	Abnormal homeostasis	7092	TLL1	ORPHA:99103
HP:0012337	Abnormal homeostasis	57057	TBX20	ORPHA:99103
HP:0012337	Abnormal homeostasis	10370	CITED2	ORPHA:99103
HP:0012337	Abnormal homeostasis	2626	GATA4	ORPHA:99103
HP:0012337	Abnormal homeostasis	2335	FN1	ORPHA:84090
HP:0012337	Abnormal homeostasis	10297	APC2	ORPHA:821
HP:0012337	Abnormal homeostasis	9158	FIBP	OMIM:617107
HP:0012337	Abnormal homeostasis	11231	SEC63	ORPHA:2924
HP:0012337	Abnormal homeostasis	5589	PRKCSH	ORPHA:2924
HP:0012337	Abnormal homeostasis	84231	TRAF7	OMIM:618164
HP:0012337	Abnormal homeostasis	1009	CDH11	ORPHA:1299
HP:0012337	Abnormal homeostasis	9509	ADAMTS2	OMIM:225410
HP:0012337	Abnormal homeostasis	2202	EFEMP1	OMIM:620780
HP:0012337	Abnormal homeostasis	80204	FBXO11	OMIM:618089
HP:0012337	Abnormal homeostasis	23476	BRD4	ORPHA:199
HP:0012337	Abnormal homeostasis	9126	SMC3	ORPHA:199
HP:0012337	Abnormal homeostasis	6878	TAF6	ORPHA:199
HP:0012337	Abnormal homeostasis	25836	NIPBL	ORPHA:199
HP:0012337	Abnormal homeostasis	55869	HDAC8	ORPHA:199
HP:0012337	Abnormal homeostasis	5885	RAD21	ORPHA:199
HP:0012337	Abnormal homeostasis	699	BUB1	OMIM:620183
HP:0012337	Abnormal homeostasis	699	BUB1	ORPHA:1052
HP:0012337	Abnormal homeostasis	1725	DHPS	OMIM:618480
HP:0012337	Abnormal homeostasis	104	ADARB1	OMIM:618862
HP:0012337	Abnormal homeostasis	4593	MUSK	OMIM:208150
HP:0012337	Abnormal homeostasis	29895	MYL11	OMIM:619110
HP:0012337	Abnormal homeostasis	83871	RAB34	OMIM:620718
HP:0012337	Abnormal homeostasis	10274	STAG1	OMIM:617635
HP:0012337	Abnormal homeostasis	2261	FGFR3	ORPHA:1860
HP:0012337	Abnormal homeostasis	2261	FGFR3	ORPHA:93274
HP:0012337	Abnormal homeostasis	7461	CLIP2	ORPHA:904
HP:0012337	Abnormal homeostasis	84277	DNAJC30	ORPHA:904
HP:0012337	Abnormal homeostasis	8468	FKBP6	ORPHA:904
HP:0012337	Abnormal homeostasis	5982	RFC2	ORPHA:904
HP:0012337	Abnormal homeostasis	2969	GTF2I	ORPHA:904
HP:0012337	Abnormal homeostasis	3984	LIMK1	ORPHA:904
HP:0012337	Abnormal homeostasis	9569	GTF2IRD1	ORPHA:904
HP:0012337	Abnormal homeostasis	155382	VPS37D	ORPHA:904
HP:0012337	Abnormal homeostasis	155368	METTL27	ORPHA:904
HP:0012337	Abnormal homeostasis	114049	BUD23	ORPHA:904
HP:0012337	Abnormal homeostasis	7458	EIF4H	ORPHA:904
HP:0012337	Abnormal homeostasis	84163	GTF2IRD2	ORPHA:904
HP:0012337	Abnormal homeostasis	26608	TBL2	ORPHA:904
HP:0012337	Abnormal homeostasis	135886	TMEM270	ORPHA:904
HP:0012337	Abnormal homeostasis	9031	BAZ1B	ORPHA:904
HP:0012337	Abnormal homeostasis	79770	TXNDC15	OMIM:619879
HP:0012337	Abnormal homeostasis	415	ARSL	ORPHA:79345
HP:0012337	Abnormal homeostasis	83475	DOHH	OMIM:620066
HP:0012337	Abnormal homeostasis	23556	PIGN	ORPHA:280633
HP:0012337	Abnormal homeostasis	9184	BUB3	ORPHA:1052
HP:0012337	Abnormal homeostasis	9702	CEP57	ORPHA:1052
HP:0012337	Abnormal homeostasis	701	BUB1B	ORPHA:1052
HP:0012337	Abnormal homeostasis	51741	WWOX	OMIM:616211
HP:0012337	Abnormal homeostasis	1822	ATN1	OMIM:618494
HP:0012337	Abnormal homeostasis	55790	CSGALNACT1	OMIM:618870
HP:0012337	Abnormal homeostasis	10082	GPC6	ORPHA:93329
HP:0012337	Abnormal homeostasis	5908	RAP1B	OMIM:620654
HP:0012337	Abnormal homeostasis	1717	DHCR7	ORPHA:818
HP:0012337	Abnormal homeostasis	168667	BMPER	OMIM:608022
HP:0012337	Abnormal homeostasis	10342	TFG	ORPHA:90117
HP:0012337	Abnormal homeostasis	23040	MYT1L	OMIM:616521
HP:0012337	Abnormal homeostasis	3560	IL2RB	ORPHA:85408
HP:0012337	Abnormal homeostasis	79722	ANKRD55	ORPHA:85408
HP:0012337	Abnormal homeostasis	3559	IL2RA	ORPHA:85408
HP:0012337	Abnormal homeostasis	5771	PTPN2	ORPHA:85408
HP:0012337	Abnormal homeostasis	3105	HLA-A	ORPHA:179
HP:0012337	Abnormal homeostasis	285440	CYP4V2	ORPHA:41751
HP:0012337	Abnormal homeostasis	57096	RPGRIP1	OMIM:608194
HP:0012337	Abnormal homeostasis	5959	RDH5	ORPHA:52427
HP:0012337	Abnormal homeostasis	83552	MFRP	OMIM:611040
HP:0012337	Abnormal homeostasis	29927	SEC61A1	OMIM:620674
HP:0012337	Abnormal homeostasis	10008	KCNE3	ORPHA:681
HP:0012337	Abnormal homeostasis	23729	SHPK	ORPHA:440713
HP:0012337	Abnormal homeostasis	100134444	KCNJ18	ORPHA:79102
HP:0012337	Abnormal homeostasis	2556	GABRA3	ORPHA:79102
HP:0012337	Abnormal homeostasis	5159	PDGFRB	OMIM:601812
HP:0012337	Abnormal homeostasis	7010	TEK	OMIM:617272
HP:0012337	Abnormal homeostasis	7010	TEK	ORPHA:98976
HP:0012337	Abnormal homeostasis	27151	CPAMD8	OMIM:617319
HP:0012337	Abnormal homeostasis	1545	CYP1B1	ORPHA:98976
HP:0012337	Abnormal homeostasis	4053	LTBP2	ORPHA:98976
HP:0012337	Abnormal homeostasis	4653	MYOC	ORPHA:98976
HP:0012337	Abnormal homeostasis	30813	VSX1	ORPHA:98973
HP:0012337	Abnormal homeostasis	58495	OVOL2	ORPHA:98973
HP:0012337	Abnormal homeostasis	79977	GRHL2	ORPHA:98973
HP:0012337	Abnormal homeostasis	7045	TGFBI	ORPHA:98964
HP:0012337	Abnormal homeostasis	1798	DPAGT1	ORPHA:86309
HP:0012337	Abnormal homeostasis	2517	FUCA1	OMIM:230000
HP:0012337	Abnormal homeostasis	10309	CCNO	OMIM:615872
HP:0012337	Abnormal homeostasis	6804	STX1A	ORPHA:586
HP:0012337	Abnormal homeostasis	2947	GSTM3	ORPHA:586
HP:0012337	Abnormal homeostasis	2729	GCLC	ORPHA:586
HP:0012337	Abnormal homeostasis	1084	CEACAM3	ORPHA:586
HP:0012337	Abnormal homeostasis	6556	SLC11A1	ORPHA:586
HP:0012337	Abnormal homeostasis	51164	DCTN4	ORPHA:586
HP:0012337	Abnormal homeostasis	1909	EDNRA	ORPHA:586
HP:0012337	Abnormal homeostasis	6550	SLC9A3	ORPHA:586
HP:0012337	Abnormal homeostasis	3162	HMOX1	ORPHA:586
HP:0012337	Abnormal homeostasis	115019	SLC26A9	ORPHA:586
HP:0012337	Abnormal homeostasis	11254	SLC6A14	ORPHA:586
HP:0012337	Abnormal homeostasis	5265	SERPINA1	ORPHA:586
HP:0012337	Abnormal homeostasis	22802	CLCA4	ORPHA:586
HP:0012337	Abnormal homeostasis	4680	CEACAM6	ORPHA:586
HP:0012337	Abnormal homeostasis	5406	PNLIP	OMIM:614338
HP:0012337	Abnormal homeostasis	10551	AGR2	OMIM:620233
HP:0012337	Abnormal homeostasis	771	CA12	OMIM:143860
HP:0012337	Abnormal homeostasis	155	ADRB3	OMIM:601665
HP:0012337	Abnormal homeostasis	7352	UCP3	OMIM:601665
HP:0012337	Abnormal homeostasis	8431	NR0B2	OMIM:601665
HP:0012337	Abnormal homeostasis	9607	CARTPT	OMIM:601665
HP:0012337	Abnormal homeostasis	51738	GHRL	OMIM:601665
HP:0012337	Abnormal homeostasis	9672	SDC3	OMIM:601665
HP:0012337	Abnormal homeostasis	181	AGRP	OMIM:601665
HP:0012337	Abnormal homeostasis	2318	FLNC	ORPHA:75249
HP:0012337	Abnormal homeostasis	2592	GALT	ORPHA:79239
HP:0012337	Abnormal homeostasis	10195	ALG3	OMIM:601110
HP:0012337	Abnormal homeostasis	171023	ASXL1	ORPHA:97297
HP:0012337	Abnormal homeostasis	55898	UNC45A	OMIM:619377
HP:0012337	Abnormal homeostasis	84342	COG8	ORPHA:95428
HP:0012337	Abnormal homeostasis	2006	ELN	OMIM:194050
HP:0012337	Abnormal homeostasis	51085	MLXIPL	OMIM:194050
HP:0012337	Abnormal homeostasis	10847	SRCAP	ORPHA:2044
HP:0012337	Abnormal homeostasis	7994	KAT6A	OMIM:616268
HP:0012337	Abnormal homeostasis	22907	DHX30	OMIM:617804
HP:0012337	Abnormal homeostasis	116931	MED12L	OMIM:618872
HP:0012337	Abnormal homeostasis	5777	PTPN6	ORPHA:3243
HP:0012337	Abnormal homeostasis	5078	PAX4	OMIM:612225
HP:0012337	Abnormal homeostasis	8802	SUCLG1	OMIM:245400
HP:0012337	Abnormal homeostasis	90161	HS6ST2	OMIM:301025
HP:0012337	Abnormal homeostasis	55863	TMEM126B	OMIM:618250
HP:0012337	Abnormal homeostasis	9997	SCO2	OMIM:604377
HP:0012337	Abnormal homeostasis	4716	NDUFB10	OMIM:619003
HP:0012337	Abnormal homeostasis	4704	NDUFA9	OMIM:618247
HP:0012337	Abnormal homeostasis	1537	CYC1	OMIM:615453
HP:0012337	Abnormal homeostasis	790955	UQCC3	OMIM:616111
HP:0012337	Abnormal homeostasis	200205	IBA57	OMIM:615330
HP:0012337	Abnormal homeostasis	11222	MRPL3	OMIM:614582
HP:0012337	Abnormal homeostasis	4705	NDUFA10	OMIM:618243
HP:0012337	Abnormal homeostasis	9692	PRORP	OMIM:619737
HP:0012337	Abnormal homeostasis	54931	TRMT10C	OMIM:616974
HP:0012337	Abnormal homeostasis	4724	NDUFS4	OMIM:252010
HP:0012337	Abnormal homeostasis	23590	PDSS1	OMIM:614651
HP:0012337	Abnormal homeostasis	4358	MPV17	OMIM:256810
HP:0012337	Abnormal homeostasis	56997	COQ8A	OMIM:612016
HP:0012337	Abnormal homeostasis	85476	GFM1	OMIM:609060
HP:0012337	Abnormal homeostasis	4191	MDH2	OMIM:617339
HP:0012337	Abnormal homeostasis	10102	TSFM	OMIM:610505
HP:0012337	Abnormal homeostasis	617	BCS1L	OMIM:124000
HP:0012337	Abnormal homeostasis	6389	SDHA	OMIM:252011
HP:0012337	Abnormal homeostasis	3570	IL6R	OMIM:618944
HP:0012337	Abnormal homeostasis	713	C1QB	OMIM:620321
HP:0012337	Abnormal homeostasis	7428	VHL	ORPHA:892
HP:0012337	Abnormal homeostasis	1121	CHM	ORPHA:180
HP:0012337	Abnormal homeostasis	2984	GUCY2C	OMIM:614665
HP:0012337	Abnormal homeostasis	152110	NEK10	OMIM:618781
HP:0012337	Abnormal homeostasis	3418	IDH2	OMIM:613657
HP:0012337	Abnormal homeostasis	79944	L2HGDH	OMIM:236792
HP:0012337	Abnormal homeostasis	8425	LTBP4	OMIM:613177
HP:0012337	Abnormal homeostasis	285362	SUMF1	OMIM:272200
HP:0012337	Abnormal homeostasis	3321	IGSF3	OMIM:149700
HP:0012337	Abnormal homeostasis	2290	FOXG1	ORPHA:261144
HP:0012337	Abnormal homeostasis	54453	RIN2	OMIM:613075
HP:0012337	Abnormal homeostasis	27316	RBMX	ORPHA:85286
HP:0012337	Abnormal homeostasis	5828	PEX2	OMIM:614866
HP:0012337	Abnormal homeostasis	5457	POU4F1	ORPHA:314647
HP:0012337	Abnormal homeostasis	23261	CAMTA1	ORPHA:314647
HP:0012337	Abnormal homeostasis	23261	CAMTA1	OMIM:614756
HP:0012337	Abnormal homeostasis	5830	PEX5	OMIM:214110
HP:0012337	Abnormal homeostasis	5293	PIK3CD	ORPHA:221139
HP:0012337	Abnormal homeostasis	90417	KNSTRN	ORPHA:221139
HP:0012337	Abnormal homeostasis	71	ACTG1	ORPHA:2995
HP:0012337	Abnormal homeostasis	60	ACTB	ORPHA:2995
HP:0012337	Abnormal homeostasis	11133	KPTN	ORPHA:397612
HP:0012337	Abnormal homeostasis	84168	ANTXR1	ORPHA:2067
HP:0012337	Abnormal homeostasis	5723	PSPH	ORPHA:79350
HP:0012337	Abnormal homeostasis	79158	GNPTAB	OMIM:252500
HP:0012337	Abnormal homeostasis	57231	SNX14	ORPHA:397709
HP:0012337	Abnormal homeostasis	55691	FRMD4A	ORPHA:466688
HP:0012337	Abnormal homeostasis	6440	SFTPC	ORPHA:685082
HP:0012337	Abnormal homeostasis	21	ABCA3	ORPHA:685082
HP:0012337	Abnormal homeostasis	6439	SFTPB	ORPHA:685082
HP:0012337	Abnormal homeostasis	6899	TBX1	ORPHA:3384
HP:0012337	Abnormal homeostasis	137814	NKX2-6	ORPHA:3384
HP:0012337	Abnormal homeostasis	23129	PLXND1	ORPHA:3384
HP:0012337	Abnormal homeostasis	2321	FLT1	ORPHA:275555
HP:0012337	Abnormal homeostasis	219736	STOX1	ORPHA:275555
HP:0012337	Abnormal homeostasis	10699	CORIN	ORPHA:275555
HP:0012337	Abnormal homeostasis	7276	TTR	OMIM:105210
HP:0012337	Abnormal homeostasis	10068	IL18BP	OMIM:618549
HP:0012337	Abnormal homeostasis	987	LRBA	OMIM:614700
HP:0012337	Abnormal homeostasis	50943	FOXP3	OMIM:304790
HP:0012337	Abnormal homeostasis	50943	FOXP3	ORPHA:37042
HP:0012337	Abnormal homeostasis	55806	HR	ORPHA:701
HP:0012337	Abnormal homeostasis	60401	EDA2R	ORPHA:181
HP:0012337	Abnormal homeostasis	83737	ITCH	OMIM:613385
HP:0012337	Abnormal homeostasis	83737	ITCH	ORPHA:228426
HP:0012337	Abnormal homeostasis	7086	TKT	ORPHA:488618
HP:0012337	Abnormal homeostasis	326	AIRE	OMIM:240300
HP:0012337	Abnormal homeostasis	284252	KCTD1	ORPHA:2036
HP:0012337	Abnormal homeostasis	5297	PI4KA	ORPHA:436252
HP:0012337	Abnormal homeostasis	57217	TTC7A	ORPHA:436252
HP:0012337	Abnormal homeostasis	3117	HLA-DQA1	OMIM:212750
HP:0012337	Abnormal homeostasis	9570	GOSR2	OMIM:620166
HP:0012337	Abnormal homeostasis	92345	NAF1	OMIM:620365
HP:0012337	Abnormal homeostasis	1854	DUT	OMIM:620044
HP:0012337	Abnormal homeostasis	51311	TLR8	OMIM:301078
HP:0012337	Abnormal homeostasis	4313	MMP2	ORPHA:371428
HP:0012337	Abnormal homeostasis	4323	MMP14	ORPHA:371428
HP:0012337	Abnormal homeostasis	375056	MIA3	OMIM:619269
HP:0012337	Abnormal homeostasis	1369	CPN1	OMIM:212070
HP:0012337	Abnormal homeostasis	5336	PLCG2	OMIM:614468
HP:0012337	Abnormal homeostasis	8291	DYSF	ORPHA:268
HP:0012337	Abnormal homeostasis	3766	KCNJ10	ORPHA:199343
HP:0012337	Abnormal homeostasis	776	CACNA1D	ORPHA:369929
HP:0012337	Abnormal homeostasis	776	CACNA1D	OMIM:615474
HP:0012337	Abnormal homeostasis	2908	NR3C1	OMIM:615962
HP:0012337	Abnormal homeostasis	2908	NR3C1	ORPHA:786
HP:0012337	Abnormal homeostasis	3291	HSD11B2	OMIM:218030
HP:0012337	Abnormal homeostasis	1181	CLCN2	ORPHA:404
HP:0012337	Abnormal homeostasis	5837	PYGM	OMIM:232600
HP:0012338	Abnormal energy expenditure	6492	SIM1	ORPHA:369873
HP:0012338	Abnormal energy expenditure	155	ADRB3	OMIM:601665
HP:0012338	Abnormal energy expenditure	5167	ENPP1	OMIM:601665
HP:0012338	Abnormal energy expenditure	7352	UCP3	OMIM:601665
HP:0012338	Abnormal energy expenditure	5443	POMC	OMIM:601665
HP:0012338	Abnormal energy expenditure	8431	NR0B2	OMIM:601665
HP:0012338	Abnormal energy expenditure	9607	CARTPT	OMIM:601665
HP:0012338	Abnormal energy expenditure	51738	GHRL	OMIM:601665
HP:0012338	Abnormal energy expenditure	9672	SDC3	OMIM:601665
HP:0012338	Abnormal energy expenditure	181	AGRP	OMIM:601665
HP:0012338	Abnormal energy expenditure	5468	PPARG	OMIM:601665
HP:0012338	Abnormal energy expenditure	55768	NGLY1	ORPHA:404454
HP:0012339	Increased resting energy expenditure	6492	SIM1	ORPHA:369873
HP:0007030	Nonprogressive encephalopathy	9439	MED23	OMIM:614249
HP:0007030	Nonprogressive encephalopathy	2192	FBLN1	ORPHA:404451
HP:0007030	Nonprogressive encephalopathy	3028	HSD17B10	ORPHA:391428
HP:0007030	Nonprogressive encephalopathy	87178	PNPT1	ORPHA:319514
HP:0007030	Nonprogressive encephalopathy	285175	UNC80	OMIM:616801
HP:0003387	Decreased number of large peripheral myelinated nerve fibers	79628	SH3TC2	OMIM:601596
HP:0003387	Decreased number of large peripheral myelinated nerve fibers	5428	POLG	ORPHA:298
HP:0003387	Decreased number of large peripheral myelinated nerve fibers	1890	TYMP	ORPHA:298
HP:0003387	Decreased number of large peripheral myelinated nerve fibers	3980	LIG3	ORPHA:298
HP:0003387	Decreased number of large peripheral myelinated nerve fibers	50484	RRM2B	ORPHA:298
HP:0003387	Decreased number of large peripheral myelinated nerve fibers	8518	ELP1	OMIM:223900
HP:0003387	Decreased number of large peripheral myelinated nerve fibers	10558	SPTLC1	OMIM:162400
HP:0003387	Decreased number of large peripheral myelinated nerve fibers	4311	MME	ORPHA:497764
HP:0003387	Decreased number of large peripheral myelinated nerve fibers	87178	PNPT1	ORPHA:101111
HP:0003387	Decreased number of large peripheral myelinated nerve fibers	9927	MFN2	OMIM:617087
HP:0003387	Decreased number of large peripheral myelinated nerve fibers	57449	PLEKHG5	OMIM:615376
HP:0003387	Decreased number of large peripheral myelinated nerve fibers	57716	PRX	OMIM:614895
HP:0003387	Decreased number of large peripheral myelinated nerve fibers	54332	GDAP1	ORPHA:99948
HP:0003387	Decreased number of large peripheral myelinated nerve fibers	54332	GDAP1	OMIM:608340
HP:0003387	Decreased number of large peripheral myelinated nerve fibers	54840	APTX	OMIM:208920
HP:0003387	Decreased number of large peripheral myelinated nerve fibers	4000	LMNA	ORPHA:98856
HP:0003387	Decreased number of large peripheral myelinated nerve fibers	4747	NEFL	ORPHA:101085
HP:0003387	Decreased number of large peripheral myelinated nerve fibers	56652	TWNK	OMIM:271245
HP:0003387	Decreased number of large peripheral myelinated nerve fibers	26353	HSPB8	OMIM:608673
HP:0003387	Decreased number of large peripheral myelinated nerve fibers	26278	SACS	OMIM:270550
HP:0003387	Decreased number of large peripheral myelinated nerve fibers	3098	HK1	OMIM:605285
HP:0003438	Absent Achilles reflex	291	SLC25A4	ORPHA:254892
HP:0003438	Absent Achilles reflex	5428	POLG	ORPHA:254892
HP:0003438	Absent Achilles reflex	5428	POLG	OMIM:607459
HP:0003438	Absent Achilles reflex	56652	TWNK	ORPHA:254892
HP:0003438	Absent Achilles reflex	56652	TWNK	OMIM:607459
HP:0003438	Absent Achilles reflex	11232	POLG2	ORPHA:254892
HP:0003438	Absent Achilles reflex	50484	RRM2B	ORPHA:254892
HP:0003438	Absent Achilles reflex	9997	SCO2	OMIM:604377
HP:0003438	Absent Achilles reflex	1410	CRYAB	OMIM:608810
HP:0003438	Absent Achilles reflex	4287	ATXN3	OMIM:109150
HP:0003438	Absent Achilles reflex	57003	CCDC47	OMIM:618268
HP:0003438	Absent Achilles reflex	3094	HINT1	ORPHA:324442
HP:0003438	Absent Achilles reflex	80207	OPA3	ORPHA:67036
HP:0003438	Absent Achilles reflex	8988	HSPB3	OMIM:613376
HP:0003438	Absent Achilles reflex	7415	VCP	ORPHA:435387
HP:0003438	Absent Achilles reflex	7415	VCP	OMIM:616687
HP:0003438	Absent Achilles reflex	22880	MORC2	OMIM:616688
HP:0003438	Absent Achilles reflex	57863	CADM3	OMIM:619519
HP:0003438	Absent Achilles reflex	4361	MRE11	ORPHA:251347
HP:0003438	Absent Achilles reflex	4361	MRE11	OMIM:604391
HP:0003438	Absent Achilles reflex	5165	PDK3	OMIM:300905
HP:0003438	Absent Achilles reflex	5165	PDK3	ORPHA:352675
HP:0003438	Absent Achilles reflex	64837	KLC2	OMIM:609541
HP:0003438	Absent Achilles reflex	10159	ATP6AP2	ORPHA:93952
HP:0003438	Absent Achilles reflex	6606	SMN1	OMIM:253400
HP:0003438	Absent Achilles reflex	6607	SMN2	OMIM:253400
HP:0003438	Absent Achilles reflex	25894	PLEKHG4	ORPHA:98765
HP:0003438	Absent Achilles reflex	7879	RAB7A	OMIM:600882
HP:0003438	Absent Achilles reflex	7504	XK	OMIM:300842
HP:0003438	Absent Achilles reflex	55958	KLHL9	ORPHA:399081
HP:0003438	Absent Achilles reflex	5375	PMP2	OMIM:618279
HP:0003438	Absent Achilles reflex	23204	ARL6IP1	OMIM:615685
HP:0003438	Absent Achilles reflex	5192	PEX10	OMIM:614871
HP:0003438	Absent Achilles reflex	65055	REEP1	OMIM:614751
HP:0003438	Absent Achilles reflex	65055	REEP1	OMIM:620011
HP:0003438	Absent Achilles reflex	3035	HARS1	ORPHA:488333
HP:0003438	Absent Achilles reflex	3035	HARS1	OMIM:616625
HP:0003438	Absent Achilles reflex	26278	SACS	OMIM:270550
HP:0003438	Absent Achilles reflex	26278	SACS	ORPHA:98
HP:0003438	Absent Achilles reflex	10280	SIGMAR1	OMIM:605726
HP:0003438	Absent Achilles reflex	8878	SQSTM1	OMIM:617158
HP:0003438	Absent Achilles reflex	4358	MPV17	OMIM:256810
HP:0003438	Absent Achilles reflex	5832	ALDH18A1	ORPHA:447757
HP:0003438	Absent Achilles reflex	5832	ALDH18A1	ORPHA:447760
HP:0003438	Absent Achilles reflex	10020	GNE	ORPHA:602
HP:0003438	Absent Achilles reflex	2632	GBE1	OMIM:263570
HP:0003438	Absent Achilles reflex	59345	GNB4	OMIM:615185
HP:0003438	Absent Achilles reflex	84342	COG8	OMIM:611182
HP:0003438	Absent Achilles reflex	2705	GJB1	OMIM:302800
HP:0003438	Absent Achilles reflex	8291	DYSF	ORPHA:178400
HP:0003438	Absent Achilles reflex	16	AARS1	OMIM:613287
HP:0003438	Absent Achilles reflex	7453	WARS1	OMIM:617721
HP:0003438	Absent Achilles reflex	5981	RFC1	OMIM:614575
HP:0003438	Absent Achilles reflex	23230	VPS13A	ORPHA:2388
HP:0003438	Absent Achilles reflex	9927	MFN2	ORPHA:99947
HP:0003438	Absent Achilles reflex	1861	TOR1A	OMIM:128100
HP:0003438	Absent Achilles reflex	4976	OPA1	ORPHA:1215
HP:0007033	Cerebellar dysplasia	29899	GPSM2	OMIM:604213
HP:0007033	Cerebellar dysplasia	29954	POMT2	OMIM:613150
HP:0007033	Cerebellar dysplasia	29954	POMT2	OMIM:236670
HP:0007033	Cerebellar dysplasia	5879	RAC1	OMIM:617751
HP:0007033	Cerebellar dysplasia	5879	RAC1	ORPHA:500159
HP:0007033	Cerebellar dysplasia	10367	MICU1	OMIM:615673
HP:0007033	Cerebellar dysplasia	79147	FKRP	OMIM:613153
HP:0007033	Cerebellar dysplasia	79147	FKRP	OMIM:236670
HP:0007033	Cerebellar dysplasia	10585	POMT1	OMIM:613155
HP:0007033	Cerebellar dysplasia	10585	POMT1	OMIM:236670
HP:0007033	Cerebellar dysplasia	998	CDC42	ORPHA:487796
HP:0007033	Cerebellar dysplasia	55624	POMGNT1	OMIM:253280
HP:0007033	Cerebellar dysplasia	9289	ADGRG1	ORPHA:98889
HP:0007033	Cerebellar dysplasia	9289	ADGRG1	ORPHA:101070
HP:0007033	Cerebellar dysplasia	5297	PI4KA	ORPHA:98889
HP:0007033	Cerebellar dysplasia	5297	PI4KA	OMIM:616531
HP:0007033	Cerebellar dysplasia	27286	SRPX2	ORPHA:98889
HP:0007033	Cerebellar dysplasia	5728	PTEN	ORPHA:101070
HP:0007033	Cerebellar dysplasia	9786	KIAA0586	OMIM:616490
HP:0007033	Cerebellar dysplasia	148789	B3GALNT2	OMIM:615181
HP:0007033	Cerebellar dysplasia	10329	RXYLT1	OMIM:615041
HP:0007033	Cerebellar dysplasia	84162	BLTP1	OMIM:617822
HP:0007033	Cerebellar dysplasia	284217	LAMA1	OMIM:615960
HP:0007033	Cerebellar dysplasia	284217	LAMA1	ORPHA:370022
HP:0007033	Cerebellar dysplasia	57187	THOC2	ORPHA:457240
HP:0007033	Cerebellar dysplasia	2218	FKTN	OMIM:236670
HP:0007033	Cerebellar dysplasia	9215	LARGE1	OMIM:236670
HP:0007033	Cerebellar dysplasia	9382	COG1	ORPHA:263508
HP:0007033	Cerebellar dysplasia	3417	IDH1	ORPHA:99646
HP:0007033	Cerebellar dysplasia	80210	ARMC9	OMIM:617622
HP:0007034	Generalized hyperreflexia	6687	SPG7	ORPHA:35689
HP:0007034	Generalized hyperreflexia	1938	EEF2	ORPHA:101112
HP:0007034	Generalized hyperreflexia	113278	SLC52A3	OMIM:211500
HP:0007034	Generalized hyperreflexia	404672	GTF2H5	ORPHA:33364
HP:0007034	Generalized hyperreflexia	833	CARS1	ORPHA:33364
HP:0007034	Generalized hyperreflexia	2068	ERCC2	ORPHA:33364
HP:0007034	Generalized hyperreflexia	7737	RNF113A	ORPHA:33364
HP:0007034	Generalized hyperreflexia	136647	MPLKIP	ORPHA:33364
HP:0007034	Generalized hyperreflexia	6897	TARS1	ORPHA:33364
HP:0007034	Generalized hyperreflexia	16	AARS1	ORPHA:33364
HP:0007034	Generalized hyperreflexia	2071	ERCC3	ORPHA:33364
HP:0007034	Generalized hyperreflexia	2961	GTF2E2	ORPHA:33364
HP:0007034	Generalized hyperreflexia	215	ABCD1	ORPHA:139396
HP:0007034	Generalized hyperreflexia	133686	NADK2	OMIM:616034
HP:0007034	Generalized hyperreflexia	8604	SLC25A12	OMIM:612949
HP:0007034	Generalized hyperreflexia	6513	SLC2A1	ORPHA:71277
HP:0007035	Anterior encephalocele	257	ALX3	OMIM:136760
HP:0007035	Anterior encephalocele	157570	ESCO2	OMIM:268300
HP:0007035	Anterior encephalocele	28514	DLL1	ORPHA:280195
HP:0007035	Anterior encephalocele	2253	FGF8	ORPHA:280195
HP:0007035	Anterior encephalocele	6496	SIX3	ORPHA:280195
HP:0007035	Anterior encephalocele	7050	TGIF1	ORPHA:280195
HP:0007035	Anterior encephalocele	4838	NODAL	ORPHA:280195
HP:0007035	Anterior encephalocele	6469	SHH	ORPHA:280195
HP:0007035	Anterior encephalocele	7546	ZIC2	ORPHA:280195
HP:0007035	Anterior encephalocele	6491	STIL	ORPHA:280195
HP:0007035	Anterior encephalocele	2619	GAS1	ORPHA:280195
HP:0007035	Anterior encephalocele	84976	DISP1	ORPHA:280195
HP:0007035	Anterior encephalocele	2736	GLI2	ORPHA:280195
HP:0007035	Anterior encephalocele	8928	FOXH1	ORPHA:280195
HP:0007035	Anterior encephalocele	6997	CRIPTO	ORPHA:280195
HP:0007035	Anterior encephalocele	5727	PTCH1	ORPHA:280195
HP:0007035	Anterior encephalocele	50937	CDON	ORPHA:280195
HP:0007035	Anterior encephalocele	30813	VSX1	OMIM:614195
HP:0007036	Hypoplasia of olfactory tract	6662	SOX9	ORPHA:140
HP:0007036	Hypoplasia of olfactory tract	79583	TMEM231	ORPHA:2754
HP:0007036	Hypoplasia of olfactory tract	10210	TOPORS	ORPHA:2754
HP:0007036	Hypoplasia of olfactory tract	9851	KIAA0753	ORPHA:2754
HP:0007036	Hypoplasia of olfactory tract	26123	TCTN3	ORPHA:2754
HP:0007036	Hypoplasia of olfactory tract	5147	PDE6D	ORPHA:2754
HP:0007036	Hypoplasia of olfactory tract	65250	CPLANE1	ORPHA:2754
HP:0007036	Hypoplasia of olfactory tract	51259	TMEM216	ORPHA:2754
HP:0007036	Hypoplasia of olfactory tract	8481	OFD1	ORPHA:2754
HP:0007036	Hypoplasia of olfactory tract	317662	FAM149B1	ORPHA:2754
HP:0007036	Hypoplasia of olfactory tract	374654	KIF7	ORPHA:2754
HP:0001321	Cerebellar hypoplasia	10682	EBP	ORPHA:401973
HP:0001321	Cerebellar hypoplasia	10682	EBP	OMIM:300960
HP:0001321	Cerebellar hypoplasia	10682	EBP	OMIM:302960
HP:0001321	Cerebellar hypoplasia	3265	HRAS	ORPHA:2612
HP:0001321	Cerebellar hypoplasia	3845	KRAS	ORPHA:2612
HP:0001321	Cerebellar hypoplasia	3845	KRAS	OMIM:609942
HP:0001321	Cerebellar hypoplasia	4893	NRAS	ORPHA:2612
HP:0001321	Cerebellar hypoplasia	4893	NRAS	OMIM:249400
HP:0001321	Cerebellar hypoplasia	23556	PIGN	ORPHA:2059
HP:0001321	Cerebellar hypoplasia	7545	ZIC1	OMIM:616602
HP:0001321	Cerebellar hypoplasia	7545	ZIC1	OMIM:618736
HP:0001321	Cerebellar hypoplasia	84942	WDR73	OMIM:251300
HP:0001321	Cerebellar hypoplasia	57465	TBC1D24	OMIM:220500
HP:0001321	Cerebellar hypoplasia	57465	TBC1D24	ORPHA:79500
HP:0001321	Cerebellar hypoplasia	55636	CHD7	ORPHA:138
HP:0001321	Cerebellar hypoplasia	9723	SEMA3E	ORPHA:138
HP:0001321	Cerebellar hypoplasia	79068	FTO	OMIM:612938
HP:0001321	Cerebellar hypoplasia	57492	ARID1B	OMIM:135900
HP:0001321	Cerebellar hypoplasia	57492	ARID1B	ORPHA:1465
HP:0001321	Cerebellar hypoplasia	3899	AFF3	OMIM:619297
HP:0001321	Cerebellar hypoplasia	25885	POLR1A	OMIM:616462
HP:0001321	Cerebellar hypoplasia	6597	SMARCA4	ORPHA:1465
HP:0001321	Cerebellar hypoplasia	6597	SMARCA4	OMIM:614609
HP:0001321	Cerebellar hypoplasia	6659	SOX4	ORPHA:1465
HP:0001321	Cerebellar hypoplasia	5977	DPF2	ORPHA:1465
HP:0001321	Cerebellar hypoplasia	6601	SMARCC2	ORPHA:1465
HP:0001321	Cerebellar hypoplasia	6602	SMARCD1	ORPHA:1465
HP:0001321	Cerebellar hypoplasia	196528	ARID2	ORPHA:1465
HP:0001321	Cerebellar hypoplasia	6664	SOX11	ORPHA:1465
HP:0001321	Cerebellar hypoplasia	27315	PGAP2	OMIM:614207
HP:0001321	Cerebellar hypoplasia	157570	ESCO2	ORPHA:2319
HP:0001321	Cerebellar hypoplasia	1717	DHCR7	OMIM:270400
HP:0001321	Cerebellar hypoplasia	57096	RPGRIP1	ORPHA:564
HP:0001321	Cerebellar hypoplasia	79770	TXNDC15	ORPHA:564
HP:0001321	Cerebellar hypoplasia	27031	NPHP3	OMIM:267010
HP:0001321	Cerebellar hypoplasia	27031	NPHP3	OMIM:208540
HP:0001321	Cerebellar hypoplasia	27031	NPHP3	ORPHA:3032
HP:0001321	Cerebellar hypoplasia	171023	ASXL1	ORPHA:97297
HP:0001321	Cerebellar hypoplasia	171023	ASXL1	OMIM:605039
HP:0001321	Cerebellar hypoplasia	9184	BUB3	ORPHA:1052
HP:0001321	Cerebellar hypoplasia	699	BUB1	ORPHA:1052
HP:0001321	Cerebellar hypoplasia	9702	CEP57	ORPHA:1052
HP:0001321	Cerebellar hypoplasia	9319	TRIP13	ORPHA:1052
HP:0001321	Cerebellar hypoplasia	84342	COG8	OMIM:611182
HP:0001321	Cerebellar hypoplasia	84188	FAR1	ORPHA:438178
HP:0001321	Cerebellar hypoplasia	84188	FAR1	OMIM:616154
HP:0001321	Cerebellar hypoplasia	55605	KIF21A	ORPHA:994
HP:0001321	Cerebellar hypoplasia	4927	NUP88	ORPHA:994
HP:0001321	Cerebellar hypoplasia	4654	MYOD1	ORPHA:994
HP:0001321	Cerebellar hypoplasia	54551	MAGEL2	ORPHA:994
HP:0001321	Cerebellar hypoplasia	5913	RAPSN	ORPHA:994
HP:0001321	Cerebellar hypoplasia	6572	SLC18A3	ORPHA:994
HP:0001321	Cerebellar hypoplasia	285489	DOK7	ORPHA:994
HP:0001321	Cerebellar hypoplasia	4534	MTM1	OMIM:310400
HP:0001321	Cerebellar hypoplasia	526	ATP6V1B2	ORPHA:79500
HP:0001321	Cerebellar hypoplasia	54880	BCOR	OMIM:300166
HP:0001321	Cerebellar hypoplasia	1654	DDX3X	ORPHA:3338
HP:0001321	Cerebellar hypoplasia	5500	PPP1CB	OMIM:617506
HP:0001321	Cerebellar hypoplasia	54676	GTPBP2	OMIM:617988
HP:0001321	Cerebellar hypoplasia	9897	WASHC5	OMIM:220210
HP:0001321	Cerebellar hypoplasia	9897	WASHC5	ORPHA:7
HP:0001321	Cerebellar hypoplasia	23007	PLCH1	OMIM:619895
HP:0001321	Cerebellar hypoplasia	132884	EVC2	OMIM:225500
HP:0001321	Cerebellar hypoplasia	2121	EVC	OMIM:225500
HP:0001321	Cerebellar hypoplasia	3798	KIF5A	OMIM:617235
HP:0001321	Cerebellar hypoplasia	1028	CDKN1C	OMIM:130650
HP:0001321	Cerebellar hypoplasia	3481	IGF2	OMIM:130650
HP:0001321	Cerebellar hypoplasia	3784	KCNQ1	OMIM:130650
HP:0001321	Cerebellar hypoplasia	10984	KCNQ1OT1	OMIM:130650
HP:0001321	Cerebellar hypoplasia	10195	ALG3	ORPHA:79321
HP:0001321	Cerebellar hypoplasia	10128	LRPPRC	OMIM:220111
HP:0001321	Cerebellar hypoplasia	54892	NCAPG2	OMIM:618460
HP:0001321	Cerebellar hypoplasia	60529	ALX4	OMIM:613451
HP:0001321	Cerebellar hypoplasia	4750	NEK1	OMIM:263520
HP:0001321	Cerebellar hypoplasia	23241	PACS2	OMIM:618067
HP:0001321	Cerebellar hypoplasia	100151683	RNU4ATAC	OMIM:210710
HP:0001321	Cerebellar hypoplasia	26160	IFT172	OMIM:615630
HP:0001321	Cerebellar hypoplasia	6091	ROBO1	OMIM:620305
HP:0001321	Cerebellar hypoplasia	2355	FOSL2	OMIM:620789
HP:0001321	Cerebellar hypoplasia	65062	TMEM237	OMIM:614424
HP:0001321	Cerebellar hypoplasia	65062	TMEM237	ORPHA:220497
HP:0001321	Cerebellar hypoplasia	65062	TMEM237	ORPHA:2318
HP:0001321	Cerebellar hypoplasia	65062	TMEM237	ORPHA:475
HP:0001321	Cerebellar hypoplasia	55733	HHAT	OMIM:600092
HP:0001321	Cerebellar hypoplasia	56623	INPP5E	OMIM:213300
HP:0001321	Cerebellar hypoplasia	56623	INPP5E	ORPHA:220493
HP:0001321	Cerebellar hypoplasia	56623	INPP5E	ORPHA:1454
HP:0001321	Cerebellar hypoplasia	56623	INPP5E	ORPHA:475
HP:0001321	Cerebellar hypoplasia	84320	ACBD6	OMIM:620785
HP:0001321	Cerebellar hypoplasia	8496	PPFIBP1	OMIM:620024
HP:0001321	Cerebellar hypoplasia	4867	NPHP1	OMIM:609583
HP:0001321	Cerebellar hypoplasia	4867	NPHP1	ORPHA:220497
HP:0001321	Cerebellar hypoplasia	64324	NSD1	ORPHA:821
HP:0001321	Cerebellar hypoplasia	91147	TMEM67	OMIM:216360
HP:0001321	Cerebellar hypoplasia	91147	TMEM67	ORPHA:1454
HP:0001321	Cerebellar hypoplasia	91147	TMEM67	ORPHA:475
HP:0001321	Cerebellar hypoplasia	91147	TMEM67	OMIM:610688
HP:0001321	Cerebellar hypoplasia	4281	MID1	OMIM:300000
HP:0001321	Cerebellar hypoplasia	9578	CDC42BPB	OMIM:619841
HP:0001321	Cerebellar hypoplasia	3020	H3-3A	OMIM:619720
HP:0001321	Cerebellar hypoplasia	219854	TMEM218	OMIM:619562
HP:0001321	Cerebellar hypoplasia	219854	TMEM218	ORPHA:475
HP:0001321	Cerebellar hypoplasia	473	RERE	OMIM:616975
HP:0001321	Cerebellar hypoplasia	473	RERE	ORPHA:494344
HP:0001321	Cerebellar hypoplasia	23322	RPGRIP1L	ORPHA:220497
HP:0001321	Cerebellar hypoplasia	23322	RPGRIP1L	ORPHA:1454
HP:0001321	Cerebellar hypoplasia	7280	TUBB2A	OMIM:615763
HP:0001321	Cerebellar hypoplasia	79644	SRD5A3	OMIM:612379
HP:0001321	Cerebellar hypoplasia	54806	AHI1	ORPHA:220493
HP:0001321	Cerebellar hypoplasia	54806	AHI1	OMIM:608629
HP:0001321	Cerebellar hypoplasia	54806	AHI1	ORPHA:475
HP:0001321	Cerebellar hypoplasia	95681	CEP41	ORPHA:220493
HP:0001321	Cerebellar hypoplasia	95681	CEP41	ORPHA:475
HP:0001321	Cerebellar hypoplasia	10501	SEMA6B	OMIM:618876
HP:0001321	Cerebellar hypoplasia	80055	PGAP1	OMIM:615802
HP:0001321	Cerebellar hypoplasia	57082	KNL1	OMIM:604321
HP:0001321	Cerebellar hypoplasia	7846	TUBA1A	OMIM:611603
HP:0001321	Cerebellar hypoplasia	7846	TUBA1A	ORPHA:467166
HP:0001321	Cerebellar hypoplasia	7846	TUBA1A	ORPHA:171680
HP:0001321	Cerebellar hypoplasia	9382	COG1	OMIM:611209
HP:0001321	Cerebellar hypoplasia	9382	COG1	ORPHA:263508
HP:0001321	Cerebellar hypoplasia	55777	MBD5	OMIM:156200
HP:0001321	Cerebellar hypoplasia	203068	TUBB	OMIM:615771
HP:0001321	Cerebellar hypoplasia	1778	DYNC1H1	OMIM:614563
HP:0001321	Cerebellar hypoplasia	23090	ZNF423	OMIM:614844
HP:0001321	Cerebellar hypoplasia	23090	ZNF423	ORPHA:2318
HP:0001321	Cerebellar hypoplasia	1801	DPH1	OMIM:616901
HP:0001321	Cerebellar hypoplasia	1801	DPH1	ORPHA:459061
HP:0001321	Cerebellar hypoplasia	22897	CEP164	OMIM:614845
HP:0001321	Cerebellar hypoplasia	54974	THG1L	OMIM:618800
HP:0001321	Cerebellar hypoplasia	79583	TMEM231	ORPHA:2318
HP:0001321	Cerebellar hypoplasia	79583	TMEM231	ORPHA:2754
HP:0001321	Cerebellar hypoplasia	51524	TMEM138	ORPHA:2318
HP:0001321	Cerebellar hypoplasia	80184	CEP290	ORPHA:2318
HP:0001321	Cerebellar hypoplasia	51259	TMEM216	ORPHA:2318
HP:0001321	Cerebellar hypoplasia	51259	TMEM216	ORPHA:2754
HP:0001321	Cerebellar hypoplasia	57545	CC2D2A	ORPHA:2318
HP:0001321	Cerebellar hypoplasia	57545	CC2D2A	ORPHA:1454
HP:0001321	Cerebellar hypoplasia	57545	CC2D2A	OMIM:619111
HP:0001321	Cerebellar hypoplasia	23116	TOGARAM1	OMIM:619185
HP:0001321	Cerebellar hypoplasia	23116	TOGARAM1	ORPHA:475
HP:0001321	Cerebellar hypoplasia	7703	PCGF2	OMIM:618371
HP:0001321	Cerebellar hypoplasia	80856	LNPK	OMIM:618090
HP:0001321	Cerebellar hypoplasia	23258	DENND5A	OMIM:617281
HP:0001321	Cerebellar hypoplasia	26278	SACS	ORPHA:98
HP:0001321	Cerebellar hypoplasia	79600	TCTN1	OMIM:614173
HP:0001321	Cerebellar hypoplasia	79600	TCTN1	ORPHA:475
HP:0001321	Cerebellar hypoplasia	127833	SYT2	OMIM:619461
HP:0001321	Cerebellar hypoplasia	1822	ATN1	OMIM:618494
HP:0001321	Cerebellar hypoplasia	8550	MAPKAPK5	OMIM:619869
HP:0001321	Cerebellar hypoplasia	545	ATR	OMIM:210600
HP:0001321	Cerebellar hypoplasia	10352	WARS2	ORPHA:572798
HP:0001321	Cerebellar hypoplasia	1974	EIF4A2	OMIM:620455
HP:0001321	Cerebellar hypoplasia	6874	TAF4	OMIM:620450
HP:0001321	Cerebellar hypoplasia	64864	RFX7	OMIM:620330
HP:0001321	Cerebellar hypoplasia	2296	FOXC1	OMIM:602482
HP:0001321	Cerebellar hypoplasia	2296	FOXC1	OMIM:601631
HP:0001321	Cerebellar hypoplasia	9851	KIAA0753	ORPHA:475
HP:0001321	Cerebellar hypoplasia	9851	KIAA0753	OMIM:619476
HP:0001321	Cerebellar hypoplasia	9851	KIAA0753	ORPHA:2754
HP:0001321	Cerebellar hypoplasia	9851	KIAA0753	OMIM:617127
HP:0001321	Cerebellar hypoplasia	5147	PDE6D	ORPHA:475
HP:0001321	Cerebellar hypoplasia	5147	PDE6D	ORPHA:2754
HP:0001321	Cerebellar hypoplasia	8481	OFD1	ORPHA:475
HP:0001321	Cerebellar hypoplasia	8481	OFD1	OMIM:300804
HP:0001321	Cerebellar hypoplasia	8481	OFD1	ORPHA:2754
HP:0001321	Cerebellar hypoplasia	51684	SUFU	ORPHA:475
HP:0001321	Cerebellar hypoplasia	65250	CPLANE1	ORPHA:475
HP:0001321	Cerebellar hypoplasia	65250	CPLANE1	OMIM:277170
HP:0001321	Cerebellar hypoplasia	65250	CPLANE1	ORPHA:2754
HP:0001321	Cerebellar hypoplasia	200894	ARL13B	ORPHA:475
HP:0001321	Cerebellar hypoplasia	219844	HYLS1	ORPHA:475
HP:0001321	Cerebellar hypoplasia	23247	KATNIP	ORPHA:475
HP:0001321	Cerebellar hypoplasia	23247	KATNIP	OMIM:616784
HP:0001321	Cerebellar hypoplasia	26123	TCTN3	ORPHA:475
HP:0001321	Cerebellar hypoplasia	26123	TCTN3	ORPHA:2754
HP:0001321	Cerebellar hypoplasia	10464	PIBF1	ORPHA:475
HP:0001321	Cerebellar hypoplasia	80210	ARMC9	ORPHA:475
HP:0001321	Cerebellar hypoplasia	25776	CBY1	ORPHA:475
HP:0001321	Cerebellar hypoplasia	27077	B9D1	ORPHA:475
HP:0001321	Cerebellar hypoplasia	403	ARL3	ORPHA:475
HP:0001321	Cerebellar hypoplasia	403	ARL3	OMIM:618161
HP:0001321	Cerebellar hypoplasia	80173	IFT74	ORPHA:475
HP:0001321	Cerebellar hypoplasia	10804	GJB6	ORPHA:477
HP:0001321	Cerebellar hypoplasia	2706	GJB2	ORPHA:477
HP:0001321	Cerebellar hypoplasia	2615	LRRC32	OMIM:619074
HP:0001321	Cerebellar hypoplasia	4352	MPL	OMIM:604498
HP:0001321	Cerebellar hypoplasia	11340	EXOSC8	OMIM:616081
HP:0001321	Cerebellar hypoplasia	57187	THOC2	OMIM:300957
HP:0001321	Cerebellar hypoplasia	2892	GRIA3	ORPHA:364028
HP:0001321	Cerebellar hypoplasia	56006	SMG9	OMIM:616920
HP:0001321	Cerebellar hypoplasia	163786	SASS6	OMIM:616402
HP:0001321	Cerebellar hypoplasia	4361	MRE11	ORPHA:251347
HP:0001321	Cerebellar hypoplasia	51692	CPSF3	OMIM:619876
HP:0001321	Cerebellar hypoplasia	27286	SRPX2	ORPHA:98889
HP:0001321	Cerebellar hypoplasia	5728	PTEN	ORPHA:101070
HP:0001321	Cerebellar hypoplasia	10236	HNRNPR	OMIM:620073
HP:0001321	Cerebellar hypoplasia	51611	DPH5	OMIM:620070
HP:0001321	Cerebellar hypoplasia	2232	FDXR	ORPHA:543470
HP:0001321	Cerebellar hypoplasia	90416	CCDC32	OMIM:619123
HP:0001321	Cerebellar hypoplasia	6121	RPE65	OMIM:204100
HP:0001321	Cerebellar hypoplasia	284217	LAMA1	OMIM:615960
HP:0001321	Cerebellar hypoplasia	5591	PRKDC	OMIM:615966
HP:0001321	Cerebellar hypoplasia	54499	TMCO1	ORPHA:1394
HP:0001321	Cerebellar hypoplasia	79971	WLS	OMIM:619648
HP:0001321	Cerebellar hypoplasia	79633	FAT4	ORPHA:314679
HP:0001321	Cerebellar hypoplasia	8642	DCHS1	ORPHA:314679
HP:0001321	Cerebellar hypoplasia	3187	HNRNPH1	OMIM:620083
HP:0001321	Cerebellar hypoplasia	57020	VPS35L	OMIM:619135
HP:0001321	Cerebellar hypoplasia	4123	MAN2C1	OMIM:619775
HP:0001321	Cerebellar hypoplasia	738	VPS51	OMIM:618606
HP:0001321	Cerebellar hypoplasia	23499	MACF1	OMIM:618325
HP:0001321	Cerebellar hypoplasia	2806	GOT2	OMIM:618721
HP:0001321	Cerebellar hypoplasia	79645	CLXN	OMIM:620642
HP:0001321	Cerebellar hypoplasia	3954	LETM1	OMIM:620089
HP:0001321	Cerebellar hypoplasia	84081	NSRP1	OMIM:620001
HP:0001321	Cerebellar hypoplasia	25782	RAB3GAP2	ORPHA:2510
HP:0001321	Cerebellar hypoplasia	22931	RAB18	ORPHA:2510
HP:0001321	Cerebellar hypoplasia	128637	TBC1D20	ORPHA:2510
HP:0001321	Cerebellar hypoplasia	10079	ATP9A	OMIM:620242
HP:0001321	Cerebellar hypoplasia	1376	CPT2	ORPHA:228308
HP:0001321	Cerebellar hypoplasia	10210	TOPORS	ORPHA:2754
HP:0001321	Cerebellar hypoplasia	317662	FAM149B1	ORPHA:2754
HP:0001321	Cerebellar hypoplasia	374654	KIF7	ORPHA:2754
HP:0001321	Cerebellar hypoplasia	129285	PPP1R21	OMIM:619383
HP:0001321	Cerebellar hypoplasia	79023	NUP37	OMIM:618179
HP:0001321	Cerebellar hypoplasia	8295	TRRAP	OMIM:618454
HP:0001321	Cerebellar hypoplasia	9181	ARHGEF2	OMIM:617523
HP:0001321	Cerebellar hypoplasia	221078	NSUN6	OMIM:620779
HP:0001321	Cerebellar hypoplasia	2719	GPC3	OMIM:312870
HP:0001321	Cerebellar hypoplasia	2239	GPC4	OMIM:312870
HP:0001321	Cerebellar hypoplasia	5908	RAP1B	OMIM:620654
HP:0001321	Cerebellar hypoplasia	9230	RAB11B	OMIM:617807
HP:0001321	Cerebellar hypoplasia	8905	AP1S2	OMIM:304340
HP:0001321	Cerebellar hypoplasia	1802	DPH2	ORPHA:459061
HP:0001321	Cerebellar hypoplasia	80816	ASXL3	ORPHA:352577
HP:0001321	Cerebellar hypoplasia	6095	RORA	OMIM:618060
HP:0001321	Cerebellar hypoplasia	11113	CIT	OMIM:617090
HP:0001321	Cerebellar hypoplasia	27183	VPS4A	OMIM:619273
HP:0001321	Cerebellar hypoplasia	29899	GPSM2	OMIM:604213
HP:0001321	Cerebellar hypoplasia	11253	MAN1B1	ORPHA:397941
HP:0001321	Cerebellar hypoplasia	11253	MAN1B1	OMIM:614202
HP:0001321	Cerebellar hypoplasia	26235	FBXL4	OMIM:615471
HP:0001321	Cerebellar hypoplasia	29925	GMPPB	OMIM:615350
HP:0001321	Cerebellar hypoplasia	29925	GMPPB	OMIM:615351
HP:0001321	Cerebellar hypoplasia	29925	GMPPB	ORPHA:370968
HP:0001321	Cerebellar hypoplasia	29925	GMPPB	ORPHA:370959
HP:0001321	Cerebellar hypoplasia	83700	JAM3	OMIM:613730
HP:0001321	Cerebellar hypoplasia	2972	BRF1	OMIM:616202
HP:0001321	Cerebellar hypoplasia	2972	BRF1	ORPHA:444072
HP:0001321	Cerebellar hypoplasia	55627	SMPD4	OMIM:618622
HP:0001321	Cerebellar hypoplasia	55624	POMGNT1	OMIM:253280
HP:0001321	Cerebellar hypoplasia	55624	POMGNT1	ORPHA:899
HP:0001321	Cerebellar hypoplasia	55624	POMGNT1	ORPHA:370959
HP:0001321	Cerebellar hypoplasia	55624	POMGNT1	OMIM:613151
HP:0001321	Cerebellar hypoplasia	55325	UFSP2	OMIM:620028
HP:0001321	Cerebellar hypoplasia	1736	DKC1	OMIM:305000
HP:0001321	Cerebellar hypoplasia	1736	DKC1	ORPHA:3322
HP:0001321	Cerebellar hypoplasia	5457	POU4F1	ORPHA:314647
HP:0001321	Cerebellar hypoplasia	23261	CAMTA1	ORPHA:314647
HP:0001321	Cerebellar hypoplasia	23261	CAMTA1	OMIM:614756
HP:0001321	Cerebellar hypoplasia	85300	ATCAY	ORPHA:94122
HP:0001321	Cerebellar hypoplasia	85300	ATCAY	OMIM:601238
HP:0001321	Cerebellar hypoplasia	57176	VARS2	OMIM:615917
HP:0001321	Cerebellar hypoplasia	9690	UBE3C	OMIM:620270
HP:0001321	Cerebellar hypoplasia	79848	CSPP1	ORPHA:397715
HP:0001321	Cerebellar hypoplasia	9786	KIAA0586	ORPHA:397715
HP:0001321	Cerebellar hypoplasia	4983	OPHN1	OMIM:300486
HP:0001321	Cerebellar hypoplasia	4983	OPHN1	ORPHA:137831
HP:0001321	Cerebellar hypoplasia	55112	DYNC2I1	ORPHA:93271
HP:0001321	Cerebellar hypoplasia	57560	IFT80	ORPHA:93271
HP:0001321	Cerebellar hypoplasia	57539	WDR35	ORPHA:93271
HP:0001321	Cerebellar hypoplasia	79659	DYNC2H1	ORPHA:93271
HP:0001321	Cerebellar hypoplasia	89891	DYNC2I2	ORPHA:93271
HP:0001321	Cerebellar hypoplasia	80232	WDR26	ORPHA:513456
HP:0001321	Cerebellar hypoplasia	5932	RBBP8	OMIM:606744
HP:0001321	Cerebellar hypoplasia	2073	ERCC5	OMIM:616570
HP:0001321	Cerebellar hypoplasia	51506	UFC1	OMIM:618076
HP:0001321	Cerebellar hypoplasia	84892	POMGNT2	OMIM:614830
HP:0001321	Cerebellar hypoplasia	84892	POMGNT2	ORPHA:899
HP:0001321	Cerebellar hypoplasia	10730	YME1L1	OMIM:617302
HP:0001321	Cerebellar hypoplasia	55690	PACS1	OMIM:615009
HP:0001321	Cerebellar hypoplasia	55690	PACS1	ORPHA:329224
HP:0001321	Cerebellar hypoplasia	84197	POMK	OMIM:615249
HP:0001321	Cerebellar hypoplasia	84197	POMK	ORPHA:899
HP:0001321	Cerebellar hypoplasia	84197	POMK	ORPHA:370959
HP:0001321	Cerebellar hypoplasia	6507	SLC1A3	OMIM:612656
HP:0001321	Cerebellar hypoplasia	51112	TRAPPC12	OMIM:617669
HP:0001321	Cerebellar hypoplasia	55780	ERMARD	ORPHA:75857
HP:0001321	Cerebellar hypoplasia	29072	SETD2	OMIM:620155
HP:0001321	Cerebellar hypoplasia	7015	TERT	OMIM:613989
HP:0001321	Cerebellar hypoplasia	7015	TERT	ORPHA:3322
HP:0001321	Cerebellar hypoplasia	7015	TERT	OMIM:127550
HP:0001321	Cerebellar hypoplasia	271	AMPD2	OMIM:615809
HP:0001321	Cerebellar hypoplasia	3735	KARS1	ORPHA:3240
HP:0001321	Cerebellar hypoplasia	9289	ADGRG1	OMIM:606854
HP:0001321	Cerebellar hypoplasia	51360	MBTPS2	ORPHA:2273
HP:0001321	Cerebellar hypoplasia	535	ATP6V0A1	OMIM:619971
HP:0001321	Cerebellar hypoplasia	26277	TINF2	OMIM:613990
HP:0001321	Cerebellar hypoplasia	26277	TINF2	ORPHA:3322
HP:0001321	Cerebellar hypoplasia	26277	TINF2	OMIM:268130
HP:0001321	Cerebellar hypoplasia	26277	TINF2	OMIM:127550
HP:0001321	Cerebellar hypoplasia	8913	CACNA1G	OMIM:618087
HP:0001321	Cerebellar hypoplasia	1020	CDK5	OMIM:616342
HP:0001321	Cerebellar hypoplasia	83871	RAB34	OMIM:620718
HP:0001321	Cerebellar hypoplasia	5119	CHMP1A	OMIM:614961
HP:0001321	Cerebellar hypoplasia	10381	TUBB3	ORPHA:300570
HP:0001321	Cerebellar hypoplasia	7436	VLDLR	OMIM:224050
HP:0001321	Cerebellar hypoplasia	6773	STAT2	OMIM:618886
HP:0001321	Cerebellar hypoplasia	93627	TBCK	OMIM:616900
HP:0001321	Cerebellar hypoplasia	114034	TOE1	OMIM:614969
HP:0001321	Cerebellar hypoplasia	8289	ARID1A	OMIM:614607
HP:0001321	Cerebellar hypoplasia	10939	AFG3L2	ORPHA:313772
HP:0001321	Cerebellar hypoplasia	6598	SMARCB1	OMIM:614608
HP:0001321	Cerebellar hypoplasia	157680	VPS13B	OMIM:216550
HP:0001321	Cerebellar hypoplasia	22	ABCB7	OMIM:301310
HP:0001321	Cerebellar hypoplasia	5354	PLP1	ORPHA:280210
HP:0001321	Cerebellar hypoplasia	9839	ZEB2	ORPHA:261552
HP:0001321	Cerebellar hypoplasia	9839	ZEB2	ORPHA:261537
HP:0001321	Cerebellar hypoplasia	9896	FIG4	ORPHA:3472
HP:0001321	Cerebellar hypoplasia	9896	FIG4	OMIM:216340
HP:0001321	Cerebellar hypoplasia	55697	VAC14	ORPHA:3472
HP:0001321	Cerebellar hypoplasia	652	BMP4	OMIM:607932
HP:0001321	Cerebellar hypoplasia	57498	KIDINS220	OMIM:619501
HP:0001321	Cerebellar hypoplasia	23312	DMXL2	OMIM:616113
HP:0001321	Cerebellar hypoplasia	23312	DMXL2	ORPHA:453533
HP:0001321	Cerebellar hypoplasia	57231	SNX14	OMIM:616354
HP:0001321	Cerebellar hypoplasia	5073	PARN	OMIM:616353
HP:0001321	Cerebellar hypoplasia	5073	PARN	ORPHA:3322
HP:0001321	Cerebellar hypoplasia	23036	ZNF292	OMIM:619188
HP:0001321	Cerebellar hypoplasia	84314	TMEM107	OMIM:617562
HP:0001321	Cerebellar hypoplasia	80776	B9D2	OMIM:614175
HP:0001321	Cerebellar hypoplasia	54872	PIGG	ORPHA:488635
HP:0001321	Cerebellar hypoplasia	54872	PIGG	OMIM:616917
HP:0001321	Cerebellar hypoplasia	26005	C2CD3	OMIM:615948
HP:0001321	Cerebellar hypoplasia	55154	MSTO1	ORPHA:502423
HP:0001321	Cerebellar hypoplasia	492	ATP2B3	ORPHA:314978
HP:0001321	Cerebellar hypoplasia	4247	MGAT2	OMIM:212066
HP:0001321	Cerebellar hypoplasia	4247	MGAT2	ORPHA:79329
HP:0001321	Cerebellar hypoplasia	5373	PMM2	OMIM:212065
HP:0001321	Cerebellar hypoplasia	5373	PMM2	ORPHA:79318
HP:0001321	Cerebellar hypoplasia	26227	PHGDH	OMIM:256520
HP:0001321	Cerebellar hypoplasia	2316	FLNA	ORPHA:90652
HP:0001321	Cerebellar hypoplasia	2316	FLNA	OMIM:300049
HP:0001321	Cerebellar hypoplasia	8241	RBM10	OMIM:311900
HP:0001321	Cerebellar hypoplasia	8241	RBM10	ORPHA:2886
HP:0001321	Cerebellar hypoplasia	2074	ERCC6	OMIM:214150
HP:0001321	Cerebellar hypoplasia	23265	EXOC7	OMIM:619072
HP:0001321	Cerebellar hypoplasia	1798	DPAGT1	ORPHA:86309
HP:0001321	Cerebellar hypoplasia	1182	CLCN3	OMIM:619512
HP:0001321	Cerebellar hypoplasia	4593	MUSK	OMIM:208150
HP:0001321	Cerebellar hypoplasia	84879	MFSD2A	OMIM:616486
HP:0001321	Cerebellar hypoplasia	51604	PIGT	OMIM:615398
HP:0001321	Cerebellar hypoplasia	23126	POGZ	OMIM:616364
HP:0001321	Cerebellar hypoplasia	55773	TBC1D23	OMIM:617695
HP:0001321	Cerebellar hypoplasia	55280	CWF19L1	OMIM:616127
HP:0001321	Cerebellar hypoplasia	8239	USP9X	ORPHA:480880
HP:0001321	Cerebellar hypoplasia	8239	USP9X	OMIM:300968
HP:0001321	Cerebellar hypoplasia	5828	PEX2	OMIM:614866
HP:0001321	Cerebellar hypoplasia	10013	HDAC6	ORPHA:163966
HP:0001321	Cerebellar hypoplasia	3912	LAMB1	ORPHA:352682
HP:0001321	Cerebellar hypoplasia	6134	RPL10	ORPHA:459070
HP:0001321	Cerebellar hypoplasia	6134	RPL10	OMIM:300998
HP:0001321	Cerebellar hypoplasia	55165	CEP55	OMIM:236500
HP:0001321	Cerebellar hypoplasia	5649	RELN	OMIM:257320
HP:0001321	Cerebellar hypoplasia	11128	POLR3A	ORPHA:447896
HP:0001321	Cerebellar hypoplasia	11128	POLR3A	ORPHA:3455
HP:0001321	Cerebellar hypoplasia	5605	MAP2K2	OMIM:615280
HP:0001321	Cerebellar hypoplasia	4644	MYO5A	ORPHA:33445
HP:0001321	Cerebellar hypoplasia	79813	EHMT1	ORPHA:261652
HP:0001321	Cerebellar hypoplasia	58508	KMT2C	ORPHA:261652
HP:0001321	Cerebellar hypoplasia	8818	DPM2	OMIM:615042
HP:0001321	Cerebellar hypoplasia	8818	DPM2	ORPHA:329178
HP:0001321	Cerebellar hypoplasia	8733	GPAA1	ORPHA:529665
HP:0001321	Cerebellar hypoplasia	8733	GPAA1	OMIM:617810
HP:0001321	Cerebellar hypoplasia	11041	B4GAT1	OMIM:615287
HP:0001321	Cerebellar hypoplasia	11041	B4GAT1	ORPHA:899
HP:0001321	Cerebellar hypoplasia	9474	ATG5	OMIM:617584
HP:0001321	Cerebellar hypoplasia	59336	PRDM13	OMIM:619761
HP:0001321	Cerebellar hypoplasia	347733	TUBB2B	OMIM:610031
HP:0001321	Cerebellar hypoplasia	9928	KIF14	OMIM:616258
HP:0001321	Cerebellar hypoplasia	9928	KIF14	OMIM:617914
HP:0001321	Cerebellar hypoplasia	10297	APC2	OMIM:618677
HP:0001321	Cerebellar hypoplasia	5340	PLG	OMIM:217090
HP:0001321	Cerebellar hypoplasia	3708	ITPR1	OMIM:117360
HP:0001321	Cerebellar hypoplasia	3708	ITPR1	OMIM:206700
HP:0001321	Cerebellar hypoplasia	9562	MINPP1	OMIM:619527
HP:0001321	Cerebellar hypoplasia	6605	SMARCE1	OMIM:616938
HP:0001321	Cerebellar hypoplasia	7443	VRK1	OMIM:607596
HP:0001321	Cerebellar hypoplasia	7443	VRK1	OMIM:620542
HP:0001321	Cerebellar hypoplasia	2683	B4GALT1	ORPHA:79332
HP:0001321	Cerebellar hypoplasia	2006	ELN	OMIM:194050
HP:0001321	Cerebellar hypoplasia	51085	MLXIPL	OMIM:194050
HP:0001321	Cerebellar hypoplasia	55691	FRMD4A	OMIM:616819
HP:0001321	Cerebellar hypoplasia	51322	WAC	ORPHA:284169
HP:0001321	Cerebellar hypoplasia	63895	PIEZO2	OMIM:248700
HP:0001321	Cerebellar hypoplasia	63895	PIEZO2	ORPHA:2461
HP:0001321	Cerebellar hypoplasia	8573	CASK	ORPHA:163937
HP:0001321	Cerebellar hypoplasia	8573	CASK	OMIM:300749
HP:0001321	Cerebellar hypoplasia	23162	MAPK8IP3	OMIM:618443
HP:0001321	Cerebellar hypoplasia	7355	SLC35A2	OMIM:300896
HP:0001321	Cerebellar hypoplasia	55120	FANCL	OMIM:614083
HP:0001321	Cerebellar hypoplasia	26047	CNTNAP2	OMIM:610042
HP:0001321	Cerebellar hypoplasia	125988	MICOS13	OMIM:618329
HP:0001321	Cerebellar hypoplasia	10735	STAG2	ORPHA:521258
HP:0001321	Cerebellar hypoplasia	729920	CRPPA	OMIM:614643
HP:0001321	Cerebellar hypoplasia	729920	CRPPA	ORPHA:899
HP:0001321	Cerebellar hypoplasia	2146	EZH2	OMIM:277590
HP:0001321	Cerebellar hypoplasia	283989	TSEN54	OMIM:277470
HP:0001321	Cerebellar hypoplasia	283989	TSEN54	OMIM:225753
HP:0001321	Cerebellar hypoplasia	283989	TSEN54	ORPHA:2524
HP:0001321	Cerebellar hypoplasia	29929	ALG6	ORPHA:79320
HP:0001321	Cerebellar hypoplasia	51750	RTEL1	ORPHA:3322
HP:0001321	Cerebellar hypoplasia	51750	RTEL1	OMIM:615190
HP:0001321	Cerebellar hypoplasia	65057	ACD	ORPHA:3322
HP:0001321	Cerebellar hypoplasia	65057	ACD	OMIM:616553
HP:0001321	Cerebellar hypoplasia	79087	ALG12	ORPHA:79324
HP:0001321	Cerebellar hypoplasia	701	BUB1B	OMIM:257300
HP:0001321	Cerebellar hypoplasia	3897	L1CAM	OMIM:304100
HP:0001321	Cerebellar hypoplasia	3897	L1CAM	ORPHA:1497
HP:0001321	Cerebellar hypoplasia	148789	B3GALNT2	OMIM:615181
HP:0001321	Cerebellar hypoplasia	148789	B3GALNT2	ORPHA:899
HP:0001321	Cerebellar hypoplasia	10533	ATG7	OMIM:619422
HP:0001321	Cerebellar hypoplasia	51645	PPIL1	OMIM:619301
HP:0001321	Cerebellar hypoplasia	6576	SLC25A1	OMIM:615182
HP:0001321	Cerebellar hypoplasia	51362	CDC40	OMIM:619302
HP:0001321	Cerebellar hypoplasia	54903	MKS1	OMIM:249000
HP:0001321	Cerebellar hypoplasia	91137	SLC25A46	OMIM:619303
HP:0001321	Cerebellar hypoplasia	51117	COQ4	OMIM:616276
HP:0001321	Cerebellar hypoplasia	256297	PTF1A	ORPHA:65288
HP:0001321	Cerebellar hypoplasia	256297	PTF1A	OMIM:609069
HP:0001321	Cerebellar hypoplasia	55656	INTS8	OMIM:618572
HP:0001321	Cerebellar hypoplasia	10243	GPHN	OMIM:615501
HP:0001321	Cerebellar hypoplasia	29968	PSAT1	OMIM:616038
HP:0001321	Cerebellar hypoplasia	51013	EXOSC1	OMIM:619304
HP:0001321	Cerebellar hypoplasia	55770	EXOC2	OMIM:619306
HP:0001321	Cerebellar hypoplasia	57724	EPG5	ORPHA:1493
HP:0001321	Cerebellar hypoplasia	84181	CHD6	ORPHA:2108
HP:0001321	Cerebellar hypoplasia	2263	FGFR2	OMIM:101200
HP:0001321	Cerebellar hypoplasia	2263	FGFR2	ORPHA:207
HP:0001321	Cerebellar hypoplasia	2261	FGFR3	OMIM:187601
HP:0001321	Cerebellar hypoplasia	2737	GLI3	ORPHA:672
HP:0001321	Cerebellar hypoplasia	2737	GLI3	OMIM:175700
HP:0001321	Cerebellar hypoplasia	9361	LONP1	OMIM:600373
HP:0001321	Cerebellar hypoplasia	1281	COL3A1	OMIM:618343
HP:0001321	Cerebellar hypoplasia	30000	TNPO2	OMIM:619556
HP:0001321	Cerebellar hypoplasia	56896	DPYSL5	OMIM:619435
HP:0001321	Cerebellar hypoplasia	160418	TMTC3	OMIM:617255
HP:0001321	Cerebellar hypoplasia	2187	FANCB	OMIM:300514
HP:0001321	Cerebellar hypoplasia	2879	GPX4	ORPHA:93317
HP:0001321	Cerebellar hypoplasia	124997	WDR81	OMIM:610185
HP:0001321	Cerebellar hypoplasia	124997	WDR81	OMIM:617967
HP:0001321	Cerebellar hypoplasia	2495	FTH1	OMIM:620669
HP:0001321	Cerebellar hypoplasia	54973	INTS11	OMIM:620428
HP:0001321	Cerebellar hypoplasia	55505	NOP10	OMIM:620425
HP:0001321	Cerebellar hypoplasia	253738	EBF3	ORPHA:96148
HP:0001321	Cerebellar hypoplasia	4838	NODAL	OMIM:270100
HP:0001321	Cerebellar hypoplasia	55593	OTUD5	OMIM:301056
HP:0001321	Cerebellar hypoplasia	128869	PIGU	OMIM:618590
HP:0001321	Cerebellar hypoplasia	10733	PLK4	OMIM:616171
HP:0001321	Cerebellar hypoplasia	1436	CSF1R	OMIM:618476
HP:0001321	Cerebellar hypoplasia	1062	CENPE	OMIM:616051
HP:0001321	Cerebellar hypoplasia	6651	SON	OMIM:617140
HP:0001321	Cerebellar hypoplasia	116461	TSEN15	OMIM:617026
HP:0001321	Cerebellar hypoplasia	116461	TSEN15	ORPHA:2524
HP:0001321	Cerebellar hypoplasia	84162	BLTP1	OMIM:617822
HP:0001321	Cerebellar hypoplasia	998	CDC42	OMIM:616737
HP:0001321	Cerebellar hypoplasia	10273	STUB1	OMIM:615768
HP:0001321	Cerebellar hypoplasia	10273	STUB1	ORPHA:412057
HP:0001321	Cerebellar hypoplasia	4081	MAB21L1	OMIM:618479
HP:0001321	Cerebellar hypoplasia	4081	MAB21L1	ORPHA:495875
HP:0001321	Cerebellar hypoplasia	8320	EOMES	ORPHA:171703
HP:0001321	Cerebellar hypoplasia	157922	CAMSAP1	OMIM:620316
HP:0001321	Cerebellar hypoplasia	7012	TERC	OMIM:127550
HP:0001321	Cerebellar hypoplasia	5048	PAFAH1B1	OMIM:607432
HP:0001321	Cerebellar hypoplasia	54820	NDE1	OMIM:605013
HP:0001321	Cerebellar hypoplasia	54820	NDE1	OMIM:614019
HP:0001321	Cerebellar hypoplasia	64221	ROBO3	OMIM:607313
HP:0001321	Cerebellar hypoplasia	2067	ERCC1	OMIM:610758
HP:0001321	Cerebellar hypoplasia	29954	POMT2	OMIM:236670
HP:0001321	Cerebellar hypoplasia	29954	POMT2	ORPHA:899
HP:0001321	Cerebellar hypoplasia	29954	POMT2	ORPHA:370968
HP:0001321	Cerebellar hypoplasia	29954	POMT2	ORPHA:370959
HP:0001321	Cerebellar hypoplasia	29954	POMT2	OMIM:613150
HP:0001321	Cerebellar hypoplasia	29954	POMT2	OMIM:613156
HP:0001321	Cerebellar hypoplasia	79147	FKRP	OMIM:236670
HP:0001321	Cerebellar hypoplasia	79147	FKRP	ORPHA:899
HP:0001321	Cerebellar hypoplasia	79147	FKRP	ORPHA:370968
HP:0001321	Cerebellar hypoplasia	79147	FKRP	ORPHA:370959
HP:0001321	Cerebellar hypoplasia	79147	FKRP	OMIM:613153
HP:0001321	Cerebellar hypoplasia	2218	FKTN	OMIM:236670
HP:0001321	Cerebellar hypoplasia	2218	FKTN	ORPHA:899
HP:0001321	Cerebellar hypoplasia	2218	FKTN	OMIM:253800
HP:0001321	Cerebellar hypoplasia	10585	POMT1	OMIM:236670
HP:0001321	Cerebellar hypoplasia	10585	POMT1	ORPHA:899
HP:0001321	Cerebellar hypoplasia	10585	POMT1	ORPHA:370968
HP:0001321	Cerebellar hypoplasia	10585	POMT1	ORPHA:370959
HP:0001321	Cerebellar hypoplasia	10585	POMT1	OMIM:613155
HP:0001321	Cerebellar hypoplasia	9215	LARGE1	OMIM:236670
HP:0001321	Cerebellar hypoplasia	9215	LARGE1	ORPHA:899
HP:0001321	Cerebellar hypoplasia	9215	LARGE1	ORPHA:370968
HP:0001321	Cerebellar hypoplasia	9215	LARGE1	OMIM:608840
HP:0001321	Cerebellar hypoplasia	9215	LARGE1	OMIM:613154
HP:0001321	Cerebellar hypoplasia	1282	COL4A1	ORPHA:899
HP:0001321	Cerebellar hypoplasia	10329	RXYLT1	ORPHA:899
HP:0001321	Cerebellar hypoplasia	1605	DAG1	ORPHA:899
HP:0001321	Cerebellar hypoplasia	7547	ZIC3	OMIM:306955
HP:0001321	Cerebellar hypoplasia	4784	NFIX	OMIM:602535
HP:0001321	Cerebellar hypoplasia	4784	NFIX	ORPHA:561
HP:0001321	Cerebellar hypoplasia	8925	HERC1	ORPHA:457359
HP:0001321	Cerebellar hypoplasia	84340	GFM2	ORPHA:565624
HP:0001321	Cerebellar hypoplasia	23221	RHOBTB2	OMIM:618004
HP:0001321	Cerebellar hypoplasia	22930	RAB3GAP1	OMIM:600118
HP:0001321	Cerebellar hypoplasia	79641	ROGDI	OMIM:226750
HP:0001321	Cerebellar hypoplasia	11274	USP18	OMIM:617397
HP:0001321	Cerebellar hypoplasia	26007	TKFC	OMIM:618805
HP:0001321	Cerebellar hypoplasia	267010	RNU12	OMIM:620208
HP:0001321	Cerebellar hypoplasia	80746	TSEN2	OMIM:612389
HP:0001321	Cerebellar hypoplasia	80746	TSEN2	ORPHA:2524
HP:0001321	Cerebellar hypoplasia	400569	MED11	OMIM:620327
HP:0001321	Cerebellar hypoplasia	1063	CENPF	OMIM:243605
HP:0001321	Cerebellar hypoplasia	2077	ERF	ORPHA:207
HP:0001321	Cerebellar hypoplasia	23203	PMPCA	OMIM:213200
HP:0001321	Cerebellar hypoplasia	6821	SUOX	OMIM:272300
HP:0001321	Cerebellar hypoplasia	191	AHCY	ORPHA:88618
HP:0001321	Cerebellar hypoplasia	6712	SPTBN2	OMIM:600224
HP:0001321	Cerebellar hypoplasia	5277	PIGA	OMIM:300868
HP:0001321	Cerebellar hypoplasia	4700	NDUFA6	OMIM:618253
HP:0001321	Cerebellar hypoplasia	3188	HNRNPH2	OMIM:300986
HP:0001321	Cerebellar hypoplasia	83696	TRAPPC9	ORPHA:352530
HP:0001321	Cerebellar hypoplasia	2260	FGFR1	OMIM:613001
HP:0001321	Cerebellar hypoplasia	55210	ATAD3A	OMIM:618810
HP:0001321	Cerebellar hypoplasia	64374	SIL1	ORPHA:559
HP:0001321	Cerebellar hypoplasia	57572	DOCK6	OMIM:614219
HP:0001321	Cerebellar hypoplasia	80347	COASY	OMIM:618266
HP:0001321	Cerebellar hypoplasia	340075	ARSI	ORPHA:401815
HP:0001321	Cerebellar hypoplasia	57003	CCDC47	OMIM:618268
HP:0001321	Cerebellar hypoplasia	112858	TP53RK	OMIM:617730
HP:0001321	Cerebellar hypoplasia	27107	ZBTB11	OMIM:618383
HP:0001321	Cerebellar hypoplasia	7737	RNF113A	OMIM:300953
HP:0001321	Cerebellar hypoplasia	29957	SLC25A24	OMIM:612289
HP:0001321	Cerebellar hypoplasia	3839	KPNA3	OMIM:620106
HP:0001321	Cerebellar hypoplasia	92935	MARS2	ORPHA:314603
HP:0001321	Cerebellar hypoplasia	25914	RTTN	ORPHA:468631
HP:0001321	Cerebellar hypoplasia	5162	PDHB	ORPHA:255138
HP:0001321	Cerebellar hypoplasia	6872	TAF1	OMIM:300966
HP:0001321	Cerebellar hypoplasia	4841	NONO	OMIM:300967
HP:0001321	Cerebellar hypoplasia	4841	NONO	ORPHA:466791
HP:0001321	Cerebellar hypoplasia	5297	PI4KA	OMIM:616531
HP:0001321	Cerebellar hypoplasia	5297	PI4KA	OMIM:619708
HP:0001321	Cerebellar hypoplasia	51124	IER3IP1	OMIM:614231
HP:0001321	Cerebellar hypoplasia	22983	MAST1	OMIM:618273
HP:0001321	Cerebellar hypoplasia	55640	FLVCR2	OMIM:225790
HP:0001321	Cerebellar hypoplasia	28952	CCDC22	OMIM:300963
HP:0001321	Cerebellar hypoplasia	79042	TSEN34	ORPHA:2524
HP:0001321	Cerebellar hypoplasia	51091	SEPSECS	ORPHA:2524
HP:0001321	Cerebellar hypoplasia	202018	TAPT1	OMIM:616897
HP:0001321	Cerebellar hypoplasia	79867	TCTN2	OMIM:616654
HP:0001321	Cerebellar hypoplasia	57038	RARS2	OMIM:611523
HP:0001321	Cerebellar hypoplasia	55164	SHQ1	OMIM:619922
HP:0001321	Cerebellar hypoplasia	7291	TWIST1	OMIM:617746
HP:0001321	Cerebellar hypoplasia	100506658	OCLN	OMIM:251290
HP:0001321	Cerebellar hypoplasia	93587	TRMT10A	ORPHA:391408
HP:0001321	Cerebellar hypoplasia	84919	PPP1R15B	ORPHA:391408
HP:0001321	Cerebellar hypoplasia	60386	SLC25A19	OMIM:607196
HP:0001321	Cerebellar hypoplasia	259266	ASPM	OMIM:608716
HP:0001321	Cerebellar hypoplasia	153241	CEP120	OMIM:616300
HP:0001321	Cerebellar hypoplasia	23545	ATP6V0A2	ORPHA:357074
HP:0001321	Cerebellar hypoplasia	523	ATP6V1A	ORPHA:357074
HP:0001321	Cerebellar hypoplasia	529	ATP6V1E1	ORPHA:357074
HP:0001321	Cerebellar hypoplasia	5879	RAC1	OMIM:617751
HP:0001321	Cerebellar hypoplasia	5879	RAC1	ORPHA:500159
HP:0001321	Cerebellar hypoplasia	440	ASNS	OMIM:615574
HP:0001321	Cerebellar hypoplasia	9731	CEP104	OMIM:616781
HP:0001321	Cerebellar hypoplasia	9939	RBM8A	OMIM:274000
HP:0001321	Cerebellar hypoplasia	1719	DHFR	OMIM:613839
HP:0001321	Cerebellar hypoplasia	6496	SIX3	OMIM:157170
HP:0001321	Cerebellar hypoplasia	55074	OXR1	OMIM:213000
HP:0001321	Cerebellar hypoplasia	23299	BICD2	OMIM:618291
HP:0001321	Cerebellar hypoplasia	57647	DHX37	OMIM:618731
HP:0001321	Cerebellar hypoplasia	23404	EXOSC2	OMIM:617763
HP:0001321	Cerebellar hypoplasia	18	ABAT	OMIM:613163
HP:0001321	Cerebellar hypoplasia	1496	CTNNA2	OMIM:618174
HP:0001321	Cerebellar hypoplasia	79587	CARS2	OMIM:616672
HP:0001321	Cerebellar hypoplasia	7471	WNT1	OMIM:615220
HP:0001321	Cerebellar hypoplasia	85378	TUBGCP6	OMIM:251270
HP:0001321	Cerebellar hypoplasia	498	ATP5F1A	OMIM:615228
HP:0001321	Cerebellar hypoplasia	27445	PCLO	OMIM:608027
HP:0001321	Cerebellar hypoplasia	5518	PPP2R1A	ORPHA:457284
HP:0001321	Cerebellar hypoplasia	6311	ATXN2	ORPHA:98756
HP:0001321	Cerebellar hypoplasia	26173	INTS1	OMIM:618571
HP:0001321	Cerebellar hypoplasia	4190	MDH1	OMIM:618959
HP:0001321	Cerebellar hypoplasia	50628	GEMIN4	OMIM:617913
HP:0001321	Cerebellar hypoplasia	2911	GRM1	OMIM:614831
HP:0001321	Cerebellar hypoplasia	51651	PTRH2	ORPHA:456312
HP:0001321	Cerebellar hypoplasia	63925	ZNF335	OMIM:615095
HP:0007039	Symmetric lesions of the basal ganglia	8622	PDE8B	OMIM:609161
HP:0033176	Submandibular lymph node enlargement	6452	SH3BP2	OMIM:118400
HP:0033177	Elevated circulating suberic acid concentration	7385	UQCRC2	OMIM:615160
HP:0012340	Decreased resting energy expenditure	155	ADRB3	OMIM:601665
HP:0012340	Decreased resting energy expenditure	5167	ENPP1	OMIM:601665
HP:0012340	Decreased resting energy expenditure	7352	UCP3	OMIM:601665
HP:0012340	Decreased resting energy expenditure	5443	POMC	OMIM:601665
HP:0012340	Decreased resting energy expenditure	8431	NR0B2	OMIM:601665
HP:0012340	Decreased resting energy expenditure	9607	CARTPT	OMIM:601665
HP:0012340	Decreased resting energy expenditure	51738	GHRL	OMIM:601665
HP:0012340	Decreased resting energy expenditure	9672	SDC3	OMIM:601665
HP:0012340	Decreased resting energy expenditure	181	AGRP	OMIM:601665
HP:0012340	Decreased resting energy expenditure	5468	PPARG	OMIM:601665
HP:0012340	Decreased resting energy expenditure	55768	NGLY1	ORPHA:404454
HP:0012343	Decreased circulating ferritin concentration	2495	FTH1	OMIM:620669
HP:0012343	Decreased circulating ferritin concentration	2512	FTL	OMIM:615604
HP:0012343	Decreased circulating ferritin concentration	2512	FTL	OMIM:606159
HP:0012343	Decreased circulating ferritin concentration	2512	FTL	ORPHA:157846
HP:0012343	Decreased circulating ferritin concentration	2671	GFER	ORPHA:330054
HP:0012343	Decreased circulating ferritin concentration	55532	SLC30A10	ORPHA:309854
HP:0012344	Morphea	6775	STAT4	OMIM:620443
HP:0012345	Abnormal glycosylation	283209	PGM2L1	OMIM:620191
HP:0012345	Abnormal glycosylation	8818	DPM2	OMIM:615042
HP:0012345	Abnormal glycosylation	10466	COG5	ORPHA:263487
HP:0012345	Abnormal glycosylation	57511	COG6	ORPHA:363523
HP:0012345	Abnormal glycosylation	440138	ALG11	ORPHA:280071
HP:0012345	Abnormal glycosylation	23545	ATP6V0A2	ORPHA:357074
HP:0012345	Abnormal glycosylation	23545	ATP6V0A2	ORPHA:2834
HP:0012345	Abnormal glycosylation	23545	ATP6V0A2	OMIM:278250
HP:0012345	Abnormal glycosylation	23545	ATP6V0A2	OMIM:219200
HP:0012345	Abnormal glycosylation	523	ATP6V1A	ORPHA:357074
HP:0012345	Abnormal glycosylation	529	ATP6V1E1	ORPHA:357074
HP:0012345	Abnormal glycosylation	5236	PGM1	OMIM:614921
HP:0012345	Abnormal glycosylation	83548	COG3	OMIM:620546
HP:0012345	Abnormal glycosylation	2683	B4GALT1	OMIM:607091
HP:0012345	Abnormal glycosylation	92344	GORAB	OMIM:231070
HP:0012345	Abnormal glycosylation	29929	ALG6	OMIM:603147
HP:0012345	Abnormal glycosylation	29929	ALG6	ORPHA:79320
HP:0012345	Abnormal glycosylation	1650	DDOST	ORPHA:300536
HP:0012345	Abnormal glycosylation	1650	DDOST	OMIM:614507
HP:0012345	Abnormal glycosylation	4351	MPI	OMIM:602579
HP:0012345	Abnormal glycosylation	8813	DPM1	OMIM:608799
HP:0012345	Abnormal glycosylation	6748	SSR4	OMIM:300934
HP:0012345	Abnormal glycosylation	85365	ALG2	OMIM:607906
HP:0012345	Abnormal glycosylation	85365	ALG2	ORPHA:79326
HP:0012345	Abnormal glycosylation	1798	DPAGT1	OMIM:608093
HP:0012345	Abnormal glycosylation	79796	ALG9	OMIM:608776
HP:0012345	Abnormal glycosylation	22845	DOLK	ORPHA:91131
HP:0012345	Abnormal glycosylation	22845	DOLK	OMIM:610768
HP:0012345	Abnormal glycosylation	9526	MPDU1	ORPHA:79323
HP:0012345	Abnormal glycosylation	79053	ALG8	ORPHA:79325
HP:0012345	Abnormal glycosylation	79053	ALG8	OMIM:608104
HP:0012345	Abnormal glycosylation	79087	ALG12	OMIM:607143
HP:0012345	Abnormal glycosylation	10195	ALG3	OMIM:601110
HP:0012345	Abnormal glycosylation	79644	SRD5A3	ORPHA:324737
HP:0012345	Abnormal glycosylation	79644	SRD5A3	OMIM:612379
HP:0012345	Abnormal glycosylation	84061	MAGT1	OMIM:301031
HP:0012345	Abnormal glycosylation	79868	ALG13	OMIM:300884
HP:0012345	Abnormal glycosylation	91869	RFT1	OMIM:612015
HP:0012345	Abnormal glycosylation	54344	DPM3	OMIM:612937
HP:0012345	Abnormal glycosylation	56052	ALG1	OMIM:608540
HP:0012345	Abnormal glycosylation	5373	PMM2	OMIM:212065
HP:0012345	Abnormal glycosylation	10159	ATP6AP2	OMIM:301045
HP:0012345	Abnormal glycosylation	91949	COG7	OMIM:608779
HP:0012345	Abnormal glycosylation	91949	COG7	ORPHA:79333
HP:0012345	Abnormal glycosylation	11253	MAN1B1	ORPHA:397941
HP:0012345	Abnormal glycosylation	84342	COG8	OMIM:611182
HP:0012345	Abnormal glycosylation	819	CAMLG	OMIM:620201
HP:0012345	Abnormal glycosylation	64116	SLC39A8	ORPHA:468699
HP:0012345	Abnormal glycosylation	4247	MGAT2	OMIM:212066
HP:0012345	Abnormal glycosylation	51608	GET4	OMIM:620200
HP:0012345	Abnormal glycosylation	9382	COG1	OMIM:611209
HP:0012345	Abnormal glycosylation	9382	COG1	ORPHA:263508
HP:0012345	Abnormal glycosylation	790	CAD	OMIM:616457
HP:0012345	Abnormal glycosylation	201595	STT3B	OMIM:615597
HP:0012345	Abnormal glycosylation	201595	STT3B	ORPHA:370924
HP:0012345	Abnormal glycosylation	7355	SLC35A2	ORPHA:356961
HP:0012345	Abnormal glycosylation	84317	CCDC115	OMIM:616828
HP:0012345	Abnormal glycosylation	22796	COG2	OMIM:617395
HP:0012345	Abnormal glycosylation	3703	STT3A	OMIM:615596
HP:0012345	Abnormal glycosylation	3703	STT3A	ORPHA:370921
HP:0012345	Abnormal glycosylation	80267	EDEM3	OMIM:619493
HP:0012345	Abnormal glycosylation	25839	COG4	ORPHA:263501
HP:0012345	Abnormal glycosylation	2542	SLC37A4	OMIM:619525
HP:0012345	Abnormal glycosylation	147007	TMEM199	OMIM:616829
HP:0012345	Abnormal glycosylation	537	ATP6AP1	OMIM:300972
HP:0012345	Abnormal glycosylation	2590	GALNT2	OMIM:618885
HP:0012346	Abnormal protein glycosylation	283209	PGM2L1	OMIM:620191
HP:0012346	Abnormal protein glycosylation	8818	DPM2	OMIM:615042
HP:0012346	Abnormal protein glycosylation	10466	COG5	ORPHA:263487
HP:0012346	Abnormal protein glycosylation	57511	COG6	ORPHA:363523
HP:0012346	Abnormal protein glycosylation	7355	SLC35A2	OMIM:300896
HP:0012346	Abnormal protein glycosylation	440138	ALG11	ORPHA:280071
HP:0012346	Abnormal protein glycosylation	23545	ATP6V0A2	ORPHA:357074
HP:0012346	Abnormal protein glycosylation	23545	ATP6V0A2	ORPHA:2834
HP:0012346	Abnormal protein glycosylation	23545	ATP6V0A2	OMIM:278250
HP:0012346	Abnormal protein glycosylation	23545	ATP6V0A2	OMIM:219200
HP:0012346	Abnormal protein glycosylation	523	ATP6V1A	ORPHA:357074
HP:0012346	Abnormal protein glycosylation	529	ATP6V1E1	ORPHA:357074
HP:0012346	Abnormal protein glycosylation	5236	PGM1	OMIM:614921
HP:0012346	Abnormal protein glycosylation	83548	COG3	OMIM:620546
HP:0012346	Abnormal protein glycosylation	2683	B4GALT1	OMIM:607091
HP:0012346	Abnormal protein glycosylation	92344	GORAB	OMIM:231070
HP:0012346	Abnormal protein glycosylation	29929	ALG6	OMIM:603147
HP:0012346	Abnormal protein glycosylation	29929	ALG6	ORPHA:79320
HP:0012346	Abnormal protein glycosylation	1650	DDOST	ORPHA:300536
HP:0012346	Abnormal protein glycosylation	1650	DDOST	OMIM:614507
HP:0012346	Abnormal protein glycosylation	4351	MPI	OMIM:602579
HP:0012346	Abnormal protein glycosylation	8813	DPM1	OMIM:608799
HP:0012346	Abnormal protein glycosylation	6748	SSR4	OMIM:300934
HP:0012346	Abnormal protein glycosylation	85365	ALG2	OMIM:607906
HP:0012346	Abnormal protein glycosylation	85365	ALG2	ORPHA:79326
HP:0012346	Abnormal protein glycosylation	1798	DPAGT1	OMIM:608093
HP:0012346	Abnormal protein glycosylation	79796	ALG9	OMIM:608776
HP:0012346	Abnormal protein glycosylation	22845	DOLK	ORPHA:91131
HP:0012346	Abnormal protein glycosylation	22845	DOLK	OMIM:610768
HP:0012346	Abnormal protein glycosylation	9526	MPDU1	ORPHA:79323
HP:0012346	Abnormal protein glycosylation	79053	ALG8	ORPHA:79325
HP:0012346	Abnormal protein glycosylation	79053	ALG8	OMIM:608104
HP:0012346	Abnormal protein glycosylation	79087	ALG12	OMIM:607143
HP:0012346	Abnormal protein glycosylation	10195	ALG3	OMIM:601110
HP:0012346	Abnormal protein glycosylation	79644	SRD5A3	ORPHA:324737
HP:0012346	Abnormal protein glycosylation	79644	SRD5A3	OMIM:612379
HP:0012346	Abnormal protein glycosylation	84061	MAGT1	OMIM:301031
HP:0012346	Abnormal protein glycosylation	79868	ALG13	OMIM:300884
HP:0012346	Abnormal protein glycosylation	91869	RFT1	OMIM:612015
HP:0012346	Abnormal protein glycosylation	54344	DPM3	OMIM:612937
HP:0012346	Abnormal protein glycosylation	56052	ALG1	OMIM:608540
HP:0012346	Abnormal protein glycosylation	5373	PMM2	OMIM:212065
HP:0012346	Abnormal protein glycosylation	10159	ATP6AP2	OMIM:301045
HP:0012346	Abnormal protein glycosylation	91949	COG7	OMIM:608779
HP:0012346	Abnormal protein glycosylation	91949	COG7	ORPHA:79333
HP:0012346	Abnormal protein glycosylation	11253	MAN1B1	ORPHA:397941
HP:0012346	Abnormal protein glycosylation	84342	COG8	OMIM:611182
HP:0012346	Abnormal protein glycosylation	819	CAMLG	OMIM:620201
HP:0012346	Abnormal protein glycosylation	64116	SLC39A8	ORPHA:468699
HP:0012346	Abnormal protein glycosylation	4247	MGAT2	OMIM:212066
HP:0012346	Abnormal protein glycosylation	51608	GET4	OMIM:620200
HP:0012346	Abnormal protein glycosylation	9382	COG1	OMIM:611209
HP:0012346	Abnormal protein glycosylation	9382	COG1	ORPHA:263508
HP:0012346	Abnormal protein glycosylation	80267	EDEM3	OMIM:619493
HP:0012346	Abnormal protein glycosylation	25839	COG4	ORPHA:263501
HP:0012346	Abnormal protein glycosylation	2542	SLC37A4	OMIM:619525
HP:0012346	Abnormal protein glycosylation	147007	TMEM199	OMIM:616829
HP:0012346	Abnormal protein glycosylation	537	ATP6AP1	OMIM:300972
HP:0012346	Abnormal protein glycosylation	2590	GALNT2	OMIM:618885
HP:0012347	Abnormal protein N-linked glycosylation	283209	PGM2L1	OMIM:620191
HP:0012347	Abnormal protein N-linked glycosylation	8818	DPM2	OMIM:615042
HP:0012347	Abnormal protein N-linked glycosylation	10466	COG5	ORPHA:263487
HP:0012347	Abnormal protein N-linked glycosylation	57511	COG6	ORPHA:363523
HP:0012347	Abnormal protein N-linked glycosylation	7355	SLC35A2	OMIM:300896
HP:0012347	Abnormal protein N-linked glycosylation	440138	ALG11	ORPHA:280071
HP:0012347	Abnormal protein N-linked glycosylation	23545	ATP6V0A2	ORPHA:357074
HP:0012347	Abnormal protein N-linked glycosylation	23545	ATP6V0A2	ORPHA:2834
HP:0012347	Abnormal protein N-linked glycosylation	23545	ATP6V0A2	OMIM:278250
HP:0012347	Abnormal protein N-linked glycosylation	23545	ATP6V0A2	OMIM:219200
HP:0012347	Abnormal protein N-linked glycosylation	523	ATP6V1A	ORPHA:357074
HP:0012347	Abnormal protein N-linked glycosylation	529	ATP6V1E1	ORPHA:357074
HP:0012347	Abnormal protein N-linked glycosylation	5236	PGM1	OMIM:614921
HP:0012347	Abnormal protein N-linked glycosylation	83548	COG3	OMIM:620546
HP:0012347	Abnormal protein N-linked glycosylation	2683	B4GALT1	OMIM:607091
HP:0012347	Abnormal protein N-linked glycosylation	92344	GORAB	OMIM:231070
HP:0012347	Abnormal protein N-linked glycosylation	29929	ALG6	OMIM:603147
HP:0012347	Abnormal protein N-linked glycosylation	29929	ALG6	ORPHA:79320
HP:0012347	Abnormal protein N-linked glycosylation	1650	DDOST	ORPHA:300536
HP:0012347	Abnormal protein N-linked glycosylation	1650	DDOST	OMIM:614507
HP:0012347	Abnormal protein N-linked glycosylation	4351	MPI	OMIM:602579
HP:0012347	Abnormal protein N-linked glycosylation	8813	DPM1	OMIM:608799
HP:0012347	Abnormal protein N-linked glycosylation	6748	SSR4	OMIM:300934
HP:0012347	Abnormal protein N-linked glycosylation	85365	ALG2	OMIM:607906
HP:0012347	Abnormal protein N-linked glycosylation	85365	ALG2	ORPHA:79326
HP:0012347	Abnormal protein N-linked glycosylation	1798	DPAGT1	OMIM:608093
HP:0012347	Abnormal protein N-linked glycosylation	79796	ALG9	OMIM:608776
HP:0012347	Abnormal protein N-linked glycosylation	22845	DOLK	ORPHA:91131
HP:0012347	Abnormal protein N-linked glycosylation	22845	DOLK	OMIM:610768
HP:0012347	Abnormal protein N-linked glycosylation	9526	MPDU1	ORPHA:79323
HP:0012347	Abnormal protein N-linked glycosylation	79053	ALG8	ORPHA:79325
HP:0012347	Abnormal protein N-linked glycosylation	79053	ALG8	OMIM:608104
HP:0012347	Abnormal protein N-linked glycosylation	79087	ALG12	OMIM:607143
HP:0012347	Abnormal protein N-linked glycosylation	10195	ALG3	OMIM:601110
HP:0012347	Abnormal protein N-linked glycosylation	79644	SRD5A3	ORPHA:324737
HP:0012347	Abnormal protein N-linked glycosylation	79644	SRD5A3	OMIM:612379
HP:0012347	Abnormal protein N-linked glycosylation	84061	MAGT1	OMIM:301031
HP:0012347	Abnormal protein N-linked glycosylation	79868	ALG13	OMIM:300884
HP:0012347	Abnormal protein N-linked glycosylation	91869	RFT1	OMIM:612015
HP:0012347	Abnormal protein N-linked glycosylation	54344	DPM3	OMIM:612937
HP:0012347	Abnormal protein N-linked glycosylation	56052	ALG1	OMIM:608540
HP:0012347	Abnormal protein N-linked glycosylation	5373	PMM2	OMIM:212065
HP:0012347	Abnormal protein N-linked glycosylation	10159	ATP6AP2	OMIM:301045
HP:0012347	Abnormal protein N-linked glycosylation	91949	COG7	OMIM:608779
HP:0012347	Abnormal protein N-linked glycosylation	91949	COG7	ORPHA:79333
HP:0012347	Abnormal protein N-linked glycosylation	11253	MAN1B1	ORPHA:397941
HP:0012347	Abnormal protein N-linked glycosylation	84342	COG8	OMIM:611182
HP:0012347	Abnormal protein N-linked glycosylation	819	CAMLG	OMIM:620201
HP:0012347	Abnormal protein N-linked glycosylation	64116	SLC39A8	ORPHA:468699
HP:0012347	Abnormal protein N-linked glycosylation	4247	MGAT2	OMIM:212066
HP:0012347	Abnormal protein N-linked glycosylation	51608	GET4	OMIM:620200
HP:0012347	Abnormal protein N-linked glycosylation	9382	COG1	OMIM:611209
HP:0012347	Abnormal protein N-linked glycosylation	9382	COG1	ORPHA:263508
HP:0012347	Abnormal protein N-linked glycosylation	80267	EDEM3	OMIM:619493
HP:0012347	Abnormal protein N-linked glycosylation	25839	COG4	ORPHA:263501
HP:0012347	Abnormal protein N-linked glycosylation	2542	SLC37A4	OMIM:619525
HP:0012347	Abnormal protein N-linked glycosylation	147007	TMEM199	OMIM:616829
HP:0012347	Abnormal protein N-linked glycosylation	537	ATP6AP1	OMIM:300972
HP:0012348	Decreased galactosylation of N-linked protein glycosylation	7355	SLC35A2	ORPHA:356961
HP:0033178	Increased circulating interleukin 8 concentration	5335	PLCG1	OMIM:620514
HP:0033178	Increased circulating interleukin 8 concentration	5422	POLA1	OMIM:301220
HP:0033178	Increased circulating interleukin 8 concentration	5696	PSMB8	OMIM:256040
HP:0007041	Chronic lymphocytic meningitis	4261	CIITA	OMIM:209920
HP:0007041	Chronic lymphocytic meningitis	55343	SLC35C1	ORPHA:99843
HP:0007042	Focal white matter lesions	291	SLC25A4	ORPHA:254892
HP:0007042	Focal white matter lesions	5428	POLG	ORPHA:254892
HP:0007042	Focal white matter lesions	56652	TWNK	ORPHA:254892
HP:0007042	Focal white matter lesions	11232	POLG2	ORPHA:254892
HP:0007042	Focal white matter lesions	50484	RRM2B	ORPHA:254892
HP:0007042	Focal white matter lesions	8635	RNASET2	OMIM:612951
HP:0007042	Focal white matter lesions	23394	ADNP	ORPHA:404448
HP:0007042	Focal white matter lesions	91574	MTRFR	ORPHA:320375
HP:0007042	Focal white matter lesions	5286	PIK3C2A	ORPHA:557003
HP:0007042	Focal white matter lesions	2475	MTOR	OMIM:607341
HP:0007042	Focal white matter lesions	7248	TSC1	OMIM:607341
HP:0007042	Focal white matter lesions	7249	TSC2	OMIM:607341
HP:0007042	Focal white matter lesions	11277	TREX1	ORPHA:247691
HP:0007042	Focal white matter lesions	54704	PDP1	ORPHA:79246
HP:0007042	Focal white matter lesions	9839	ZEB2	ORPHA:261537
HP:0007042	Focal white matter lesions	9839	ZEB2	ORPHA:261552
HP:0000763	Sensory neuropathy	773	CACNA1A	OMIM:183086
HP:0000763	Sensory neuropathy	9131	AIFM1	ORPHA:101078
HP:0000763	Sensory neuropathy	9131	AIFM1	OMIM:310490
HP:0000763	Sensory neuropathy	87178	PNPT1	ORPHA:101111
HP:0000763	Sensory neuropathy	87178	PNPT1	ORPHA:319514
HP:0000763	Sensory neuropathy	87178	PNPT1	OMIM:608703
HP:0000763	Sensory neuropathy	9150	CTDP1	ORPHA:48431
HP:0000763	Sensory neuropathy	59341	TRPV4	OMIM:606071
HP:0000763	Sensory neuropathy	55699	IARS2	OMIM:616007
HP:0000763	Sensory neuropathy	7148	TNXB	ORPHA:230839
HP:0000763	Sensory neuropathy	1786	DNMT1	ORPHA:314404
HP:0000763	Sensory neuropathy	1786	DNMT1	OMIM:614116
HP:0000763	Sensory neuropathy	1786	DNMT1	OMIM:604121
HP:0000763	Sensory neuropathy	5189	PEX1	ORPHA:3220
HP:0000763	Sensory neuropathy	5190	PEX6	ORPHA:3220
HP:0000763	Sensory neuropathy	5190	PEX6	ORPHA:95433
HP:0000763	Sensory neuropathy	1493	CTLA4	ORPHA:900
HP:0000763	Sensory neuropathy	26191	PTPN22	ORPHA:900
HP:0000763	Sensory neuropathy	3115	HLA-DPB1	ORPHA:900
HP:0000763	Sensory neuropathy	5657	PRTN3	ORPHA:900
HP:0000763	Sensory neuropathy	3113	HLA-DPA1	ORPHA:900
HP:0000763	Sensory neuropathy	2705	GJB1	ORPHA:101075
HP:0000763	Sensory neuropathy	2705	GJB1	OMIM:302800
HP:0000763	Sensory neuropathy	1776	DNASE1L3	ORPHA:36412
HP:0000763	Sensory neuropathy	7040	TGFB1	ORPHA:1328
HP:0000763	Sensory neuropathy	57679	ALS2	ORPHA:247604
HP:0000763	Sensory neuropathy	11160	ERLIN2	ORPHA:247604
HP:0000763	Sensory neuropathy	1311	COMP	OMIM:177170
HP:0000763	Sensory neuropathy	7879	RAB7A	OMIM:600882
HP:0000763	Sensory neuropathy	5631	PRPS1	ORPHA:99014
HP:0000763	Sensory neuropathy	5354	PLP1	ORPHA:99015
HP:0000763	Sensory neuropathy	6315	ATXN8OS	OMIM:608768
HP:0000763	Sensory neuropathy	724066	ATXN8	OMIM:608768
HP:0000763	Sensory neuropathy	10743	RAI1	ORPHA:477817
HP:0000763	Sensory neuropathy	100147744	RNU7-1	OMIM:619487
HP:0000763	Sensory neuropathy	2934	GSN	ORPHA:85448
HP:0000763	Sensory neuropathy	23230	VPS13A	OMIM:200150
HP:0000763	Sensory neuropathy	23204	ARL6IP1	OMIM:615685
HP:0000763	Sensory neuropathy	23600	AMACR	ORPHA:79095
HP:0000763	Sensory neuropathy	10342	TFG	OMIM:604484
HP:0000763	Sensory neuropathy	80208	SPG11	OMIM:604360
HP:0000763	Sensory neuropathy	1185	CLCN6	OMIM:619173
HP:0000763	Sensory neuropathy	210	ALAD	ORPHA:100924
HP:0000763	Sensory neuropathy	7518	XRCC4	OMIM:616541
HP:0000763	Sensory neuropathy	2395	FXN	OMIM:229300
HP:0000763	Sensory neuropathy	1384	CRAT	OMIM:617917
HP:0000763	Sensory neuropathy	85021	REPS1	OMIM:617916
HP:0000763	Sensory neuropathy	4508	MT-ATP6	ORPHA:644
HP:0000763	Sensory neuropathy	4508	MT-ATP6	OMIM:551500
HP:0000763	Sensory neuropathy	5498	PPOX	OMIM:620483
HP:0000763	Sensory neuropathy	1130	LYST	ORPHA:167
HP:0000763	Sensory neuropathy	1678	TIMM8A	ORPHA:52368
HP:0000763	Sensory neuropathy	7274	TTPA	ORPHA:96
HP:0000763	Sensory neuropathy	463	ZFHX3	OMIM:600223
HP:0000763	Sensory neuropathy	7156	TOP3A	OMIM:618098
HP:0000763	Sensory neuropathy	667	DST	OMIM:614653
HP:0000763	Sensory neuropathy	55775	TDP1	OMIM:607250
HP:0000763	Sensory neuropathy	367	AR	OMIM:313200
HP:0000763	Sensory neuropathy	55361	PI4K2A	OMIM:620732
HP:0000763	Sensory neuropathy	4771	NF2	ORPHA:637
HP:0000763	Sensory neuropathy	79158	GNPTAB	OMIM:252600
HP:0000763	Sensory neuropathy	4668	NAGA	ORPHA:79279
HP:0000763	Sensory neuropathy	9990	SLC12A6	OMIM:218000
HP:0000763	Sensory neuropathy	4976	OPA1	ORPHA:1215
HP:0000763	Sensory neuropathy	23646	PLD3	OMIM:617770
HP:0000763	Sensory neuropathy	3094	HINT1	ORPHA:324442
HP:0000763	Sensory neuropathy	3094	HINT1	OMIM:137200
HP:0000763	Sensory neuropathy	23345	SYNE1	ORPHA:88644
HP:0000763	Sensory neuropathy	25923	ATL3	OMIM:615632
HP:0000763	Sensory neuropathy	22948	CCT5	ORPHA:139578
HP:0000763	Sensory neuropathy	391356	PTRHD1	OMIM:620747
HP:0000763	Sensory neuropathy	4744	NEFH	OMIM:616924
HP:0000763	Sensory neuropathy	4762	NEUROG1	OMIM:620469
HP:0000763	Sensory neuropathy	7443	VRK1	OMIM:620542
HP:0000763	Sensory neuropathy	5428	POLG	OMIM:258450
HP:0000763	Sensory neuropathy	5428	POLG	ORPHA:94125
HP:0000763	Sensory neuropathy	5428	POLG	ORPHA:254881
HP:0000763	Sensory neuropathy	5428	POLG	ORPHA:254886
HP:0000763	Sensory neuropathy	5428	POLG	OMIM:157640
HP:0000763	Sensory neuropathy	5428	POLG	OMIM:607459
HP:0000763	Sensory neuropathy	64837	KLC2	OMIM:609541
HP:0000763	Sensory neuropathy	2259	FGF14	ORPHA:98764
HP:0000763	Sensory neuropathy	25894	PLEKHG4	ORPHA:98765
HP:0000763	Sensory neuropathy	57165	GJC2	OMIM:608804
HP:0000763	Sensory neuropathy	7084	TK2	ORPHA:254886
HP:0000763	Sensory neuropathy	3074	HEXB	ORPHA:309169
HP:0000763	Sensory neuropathy	6472	SHMT2	OMIM:619121
HP:0000763	Sensory neuropathy	63895	PIEZO2	OMIM:617146
HP:0000763	Sensory neuropathy	56652	TWNK	OMIM:616138
HP:0000763	Sensory neuropathy	56652	TWNK	OMIM:271245
HP:0000763	Sensory neuropathy	56652	TWNK	OMIM:609286
HP:0000763	Sensory neuropathy	56652	TWNK	OMIM:607459
HP:0000763	Sensory neuropathy	22880	MORC2	ORPHA:466768
HP:0000763	Sensory neuropathy	219285	SAMD9L	OMIM:619806
HP:0000763	Sensory neuropathy	3178	HNRNPA1	ORPHA:52430
HP:0000763	Sensory neuropathy	7415	VCP	ORPHA:52430
HP:0000763	Sensory neuropathy	3181	HNRNPA2B1	ORPHA:52430
HP:0000763	Sensory neuropathy	51	ACOX1	OMIM:618960
HP:0000763	Sensory neuropathy	116228	COX20	OMIM:619054
HP:0000763	Sensory neuropathy	1716	DGUOK	ORPHA:329314
HP:0000763	Sensory neuropathy	1509	CTSD	OMIM:610127
HP:0000763	Sensory neuropathy	823	CAPN1	OMIM:616907
HP:0000763	Sensory neuropathy	8139	GAN	OMIM:256850
HP:0000763	Sensory neuropathy	23400	ATP13A2	ORPHA:513436
HP:0000763	Sensory neuropathy	8449	DHX16	OMIM:618733
HP:0000763	Sensory neuropathy	144165	PRICKLE1	OMIM:612437
HP:0000763	Sensory neuropathy	4000	LMNA	ORPHA:98856
HP:0000763	Sensory neuropathy	9927	MFN2	ORPHA:99947
HP:0000763	Sensory neuropathy	10558	SPTLC1	OMIM:162400
HP:0000763	Sensory neuropathy	9517	SPTLC2	OMIM:613640
HP:0000763	Sensory neuropathy	81790	RNF170	OMIM:608984
HP:0000763	Sensory neuropathy	1756	DMD	ORPHA:206546
HP:0000763	Sensory neuropathy	50846	DHH	ORPHA:168563
HP:0000763	Sensory neuropathy	3098	HK1	ORPHA:99953
HP:0000763	Sensory neuropathy	51062	ATL1	OMIM:613708
HP:0000763	Sensory neuropathy	22943	DKK1	ORPHA:268882
HP:0000763	Sensory neuropathy	200205	IBA57	ORPHA:468661
HP:0000763	Sensory neuropathy	4558	MT-TF	ORPHA:550
HP:0000763	Sensory neuropathy	4572	MT-TQ	ORPHA:550
HP:0000763	Sensory neuropathy	4512	MT-CO1	ORPHA:550
HP:0000763	Sensory neuropathy	4513	MT-CO2	ORPHA:550
HP:0000763	Sensory neuropathy	4514	MT-CO3	ORPHA:550
HP:0000763	Sensory neuropathy	4578	MT-TW	ORPHA:550
HP:0000763	Sensory neuropathy	4540	MT-ND5	ORPHA:550
HP:0000763	Sensory neuropathy	4541	MT-ND6	ORPHA:550
HP:0000763	Sensory neuropathy	4535	MT-ND1	ORPHA:550
HP:0000763	Sensory neuropathy	4538	MT-ND4	ORPHA:550
HP:0000763	Sensory neuropathy	4567	MT-TL1	ORPHA:550
HP:0000763	Sensory neuropathy	4574	MT-TS1	ORPHA:550
HP:0000763	Sensory neuropathy	4575	MT-TS2	ORPHA:550
HP:0000763	Sensory neuropathy	4564	MT-TH	ORPHA:550
HP:0000763	Sensory neuropathy	3032	HADHB	ORPHA:746
HP:0000763	Sensory neuropathy	3030	HADHA	ORPHA:746
HP:0007047	Atrophy of the dentate nucleus	124997	WDR81	OMIM:610185
HP:0007047	Atrophy of the dentate nucleus	1822	ATN1	OMIM:125370
HP:0007048	Large basal ganglia	9839	ZEB2	ORPHA:261537
HP:0007048	Large basal ganglia	9839	ZEB2	ORPHA:261552
HP:0007048	Large basal ganglia	9839	ZEB2	OMIM:235730
HP:0007048	Large basal ganglia	545	ATR	OMIM:210600
HP:0007048	Large basal ganglia	10381	TUBB3	ORPHA:300570
HP:0007289	Limb fasciculations	54902	TTC19	OMIM:615157
HP:0007289	Limb fasciculations	10342	TFG	ORPHA:90117
HP:0007289	Limb fasciculations	7415	VCP	ORPHA:329475
HP:0007289	Limb fasciculations	3094	HINT1	ORPHA:324442
HP:0007289	Limb fasciculations	25814	ATXN10	OMIM:603516
HP:0007289	Limb fasciculations	3315	HSPB1	ORPHA:99940
HP:0007289	Limb fasciculations	6606	SMN1	OMIM:253400
HP:0007289	Limb fasciculations	6607	SMN2	OMIM:253400
HP:0033183	Bilobed right lung	57545	CC2D2A	OMIM:612284
HP:0033183	Bilobed right lung	83871	RAB34	OMIM:620718
HP:0033186	Misalignment of the pulmonary veins	6439	SFTPB	OMIM:265120
HP:0033186	Misalignment of the pulmonary veins	2294	FOXF1	OMIM:265380
HP:0033187	Hyperimidodipeptiduria	5184	PEPD	OMIM:170100
HP:0012358	Abnormal protein O-linked glycosylation	25839	COG4	ORPHA:263501
HP:0012358	Abnormal protein O-linked glycosylation	2542	SLC37A4	OMIM:619525
HP:0012358	Abnormal protein O-linked glycosylation	147007	TMEM199	OMIM:616829
HP:0012358	Abnormal protein O-linked glycosylation	2590	GALNT2	OMIM:618885
HP:0012358	Abnormal protein O-linked glycosylation	537	ATP6AP1	OMIM:300972
HP:0012358	Abnormal protein O-linked glycosylation	7355	SLC35A2	ORPHA:356961
HP:0012358	Abnormal protein O-linked glycosylation	54344	DPM3	ORPHA:263494
HP:0012358	Abnormal protein O-linked glycosylation	8818	DPM2	OMIM:615042
HP:0033189	Radiculomegaly	54880	BCOR	OMIM:300166
HP:0033188	Cystic acne	9051	PSTPIP1	OMIM:604416
HP:0033188	Cystic acne	4210	MEFV	OMIM:608068
HP:0002085	Occipital encephalocele	3912	LAMB1	OMIM:615191
HP:0002085	Occipital encephalocele	3912	LAMB1	ORPHA:352682
HP:0002085	Occipital encephalocele	4488	MSX2	ORPHA:60015
HP:0002085	Occipital encephalocele	60529	ALX4	ORPHA:60015
HP:0002085	Occipital encephalocele	3339	HSPG2	OMIM:224410
HP:0002085	Occipital encephalocele	79583	TMEM231	OMIM:615397
HP:0002085	Occipital encephalocele	160418	TMTC3	OMIM:617255
HP:0002085	Occipital encephalocele	57545	CC2D2A	OMIM:612284
HP:0002085	Occipital encephalocele	57545	CC2D2A	ORPHA:1454
HP:0002085	Occipital encephalocele	80184	CEP290	OMIM:610188
HP:0002085	Occipital encephalocele	79848	CSPP1	OMIM:615636
HP:0002085	Occipital encephalocele	79848	CSPP1	ORPHA:397715
HP:0002085	Occipital encephalocele	6608	SMO	OMIM:241800
HP:0002085	Occipital encephalocele	79770	TXNDC15	OMIM:619879
HP:0002085	Occipital encephalocele	10992	SF3B2	OMIM:164210
HP:0002085	Occipital encephalocele	27077	B9D1	OMIM:614209
HP:0002085	Occipital encephalocele	91147	TMEM67	OMIM:607361
HP:0002085	Occipital encephalocele	91147	TMEM67	OMIM:216360
HP:0002085	Occipital encephalocele	91147	TMEM67	ORPHA:1454
HP:0002085	Occipital encephalocele	3239	HOXD13	ORPHA:887
HP:0002085	Occipital encephalocele	80781	COL18A1	OMIM:267750
HP:0002085	Occipital encephalocele	80781	COL18A1	ORPHA:1571
HP:0002085	Occipital encephalocele	9786	KIAA0586	ORPHA:397715
HP:0002085	Occipital encephalocele	29925	GMPPB	ORPHA:370959
HP:0002085	Occipital encephalocele	79147	FKRP	ORPHA:370959
HP:0002085	Occipital encephalocele	79147	FKRP	OMIM:236670
HP:0002085	Occipital encephalocele	29954	POMT2	ORPHA:370959
HP:0002085	Occipital encephalocele	29954	POMT2	OMIM:236670
HP:0002085	Occipital encephalocele	84197	POMK	ORPHA:370959
HP:0002085	Occipital encephalocele	55624	POMGNT1	ORPHA:370959
HP:0002085	Occipital encephalocele	10585	POMT1	ORPHA:370959
HP:0002085	Occipital encephalocele	10585	POMT1	OMIM:236670
HP:0002085	Occipital encephalocele	54903	MKS1	OMIM:249000
HP:0002085	Occipital encephalocele	200894	ARL13B	OMIM:612291
HP:0002085	Occipital encephalocele	11041	B4GAT1	OMIM:615287
HP:0002085	Occipital encephalocele	219854	TMEM218	OMIM:619562
HP:0002085	Occipital encephalocele	84314	TMEM107	OMIM:617562
HP:0002085	Occipital encephalocele	80776	B9D2	OMIM:614175
HP:0002085	Occipital encephalocele	23322	RPGRIP1L	OMIM:611561
HP:0002085	Occipital encephalocele	23322	RPGRIP1L	ORPHA:1454
HP:0002085	Occipital encephalocele	56623	INPP5E	ORPHA:1454
HP:0002085	Occipital encephalocele	56603	CYP26B1	OMIM:614416
HP:0002085	Occipital encephalocele	79867	TCTN2	OMIM:613885
HP:0002085	Occipital encephalocele	5062	PAK2	ORPHA:1571
HP:0002085	Occipital encephalocele	26123	TCTN3	OMIM:614815
HP:0002085	Occipital encephalocele	26005	C2CD3	OMIM:615948
HP:0002085	Occipital encephalocele	2218	FKTN	OMIM:236670
HP:0002085	Occipital encephalocele	9215	LARGE1	OMIM:236670
HP:0007052	Multifocal cerebral white matter abnormalities	83696	TRAPPC9	ORPHA:352530
HP:0007052	Multifocal cerebral white matter abnormalities	728294	D2HGDH	OMIM:600721
HP:0007052	Multifocal cerebral white matter abnormalities	10535	RNASEH2A	ORPHA:51
HP:0007052	Multifocal cerebral white matter abnormalities	84153	RNASEH2C	ORPHA:51
HP:0007052	Multifocal cerebral white matter abnormalities	25939	SAMHD1	ORPHA:51
HP:0007052	Multifocal cerebral white matter abnormalities	79621	RNASEH2B	ORPHA:51
HP:0007052	Multifocal cerebral white matter abnormalities	103	ADAR	ORPHA:51
HP:0007052	Multifocal cerebral white matter abnormalities	11277	TREX1	ORPHA:51
HP:0007052	Multifocal cerebral white matter abnormalities	100147744	RNU7-1	ORPHA:51
HP:0007052	Multifocal cerebral white matter abnormalities	134353	LSM11	ORPHA:51
HP:0007052	Multifocal cerebral white matter abnormalities	64135	IFIH1	ORPHA:51
HP:0007052	Multifocal cerebral white matter abnormalities	83480	PUS3	ORPHA:488627
HP:0007052	Multifocal cerebral white matter abnormalities	10166	SLC25A15	ORPHA:415
HP:0007052	Multifocal cerebral white matter abnormalities	90952	ESAM	OMIM:620371
HP:0007052	Multifocal cerebral white matter abnormalities	4854	NOTCH3	ORPHA:136
HP:0007052	Multifocal cerebral white matter abnormalities	2548	GAA	ORPHA:308552
HP:0007054	Proximal hyperreflexia	23769	FLRT1	ORPHA:320406
HP:0007054	Proximal hyperreflexia	64837	KLC2	ORPHA:320406
HP:0007054	Proximal hyperreflexia	64837	KLC2	OMIM:609541
HP:0007054	Proximal hyperreflexia	10908	PNPLA6	OMIM:215470
HP:0007054	Proximal hyperreflexia	10280	SIGMAR1	OMIM:605726
HP:0007054	Proximal hyperreflexia	200205	IBA57	ORPHA:468661
HP:0007054	Proximal hyperreflexia	4841	NONO	ORPHA:466791
HP:0007054	Proximal hyperreflexia	1327	COX4I1	OMIM:619060
HP:0007054	Proximal hyperreflexia	3074	HEXB	ORPHA:309155
HP:0007054	Proximal hyperreflexia	23400	ATP13A2	ORPHA:306674
HP:0007054	Proximal hyperreflexia	6709	SPTAN1	OMIM:620528
HP:0007054	Proximal hyperreflexia	55149	MTPAP	OMIM:613672
HP:0007054	Proximal hyperreflexia	23204	ARL6IP1	OMIM:615685
HP:0007054	Proximal hyperreflexia	23204	ARL6IP1	ORPHA:401780
HP:0007054	Proximal hyperreflexia	6389	SDHA	ORPHA:3208
HP:0007054	Proximal hyperreflexia	6390	SDHB	ORPHA:3208
HP:0007054	Proximal hyperreflexia	6392	SDHD	ORPHA:3208
HP:0007054	Proximal hyperreflexia	644096	SDHAF1	ORPHA:3208
HP:0007054	Proximal hyperreflexia	5238	PGM3	ORPHA:443811
HP:0007054	Proximal hyperreflexia	3035	HARS1	OMIM:614504
HP:0007054	Proximal hyperreflexia	3035	HARS1	OMIM:616625
HP:0007054	Proximal hyperreflexia	5832	ALDH18A1	ORPHA:447757
HP:0007054	Proximal hyperreflexia	55129	ANO10	OMIM:613728
HP:0007054	Proximal hyperreflexia	26278	SACS	OMIM:270550
HP:0007141	Sensorimotor neuropathy	9488	PIGB	OMIM:618580
HP:0007141	Sensorimotor neuropathy	4558	MT-TF	ORPHA:550
HP:0007141	Sensorimotor neuropathy	4572	MT-TQ	ORPHA:550
HP:0007141	Sensorimotor neuropathy	4512	MT-CO1	ORPHA:550
HP:0007141	Sensorimotor neuropathy	4513	MT-CO2	ORPHA:550
HP:0007141	Sensorimotor neuropathy	4514	MT-CO3	ORPHA:550
HP:0007141	Sensorimotor neuropathy	4578	MT-TW	ORPHA:550
HP:0007141	Sensorimotor neuropathy	4578	MT-TW	ORPHA:255210
HP:0007141	Sensorimotor neuropathy	4540	MT-ND5	ORPHA:550
HP:0007141	Sensorimotor neuropathy	4540	MT-ND5	ORPHA:255210
HP:0007141	Sensorimotor neuropathy	4541	MT-ND6	ORPHA:550
HP:0007141	Sensorimotor neuropathy	4541	MT-ND6	ORPHA:255210
HP:0007141	Sensorimotor neuropathy	4535	MT-ND1	ORPHA:550
HP:0007141	Sensorimotor neuropathy	4535	MT-ND1	ORPHA:255210
HP:0007141	Sensorimotor neuropathy	4538	MT-ND4	ORPHA:550
HP:0007141	Sensorimotor neuropathy	4538	MT-ND4	ORPHA:255210
HP:0007141	Sensorimotor neuropathy	4567	MT-TL1	ORPHA:550
HP:0007141	Sensorimotor neuropathy	4567	MT-TL1	ORPHA:255210
HP:0007141	Sensorimotor neuropathy	4574	MT-TS1	ORPHA:550
HP:0007141	Sensorimotor neuropathy	4575	MT-TS2	ORPHA:550
HP:0007141	Sensorimotor neuropathy	4564	MT-TH	ORPHA:550
HP:0007141	Sensorimotor neuropathy	3145	HMBS	OMIM:620704
HP:0007141	Sensorimotor neuropathy	3145	HMBS	OMIM:620711
HP:0007141	Sensorimotor neuropathy	50484	RRM2B	ORPHA:329336
HP:0007141	Sensorimotor neuropathy	50484	RRM2B	ORPHA:298
HP:0007141	Sensorimotor neuropathy	246243	RNASEH1	ORPHA:329336
HP:0007141	Sensorimotor neuropathy	4311	MME	OMIM:617018
HP:0007141	Sensorimotor neuropathy	4311	MME	OMIM:617017
HP:0007141	Sensorimotor neuropathy	4311	MME	ORPHA:497764
HP:0007141	Sensorimotor neuropathy	57704	GBA2	ORPHA:352641
HP:0007141	Sensorimotor neuropathy	4747	NEFL	ORPHA:99939
HP:0007141	Sensorimotor neuropathy	4747	NEFL	ORPHA:101085
HP:0007141	Sensorimotor neuropathy	4747	NEFL	OMIM:617882
HP:0007141	Sensorimotor neuropathy	11284	PNKP	ORPHA:459033
HP:0007141	Sensorimotor neuropathy	55775	TDP1	ORPHA:94124
HP:0007141	Sensorimotor neuropathy	23600	AMACR	OMIM:614307
HP:0007141	Sensorimotor neuropathy	23600	AMACR	ORPHA:79095
HP:0007141	Sensorimotor neuropathy	51816	ADA2	ORPHA:820
HP:0007141	Sensorimotor neuropathy	79581	SLC52A2	OMIM:614707
HP:0007141	Sensorimotor neuropathy	5521	PPP2R2B	OMIM:604326
HP:0007141	Sensorimotor neuropathy	5521	PPP2R2B	ORPHA:98762
HP:0007141	Sensorimotor neuropathy	7879	RAB7A	OMIM:600882
HP:0007141	Sensorimotor neuropathy	4536	MT-ND2	ORPHA:255210
HP:0007141	Sensorimotor neuropathy	4537	MT-ND3	ORPHA:255210
HP:0007141	Sensorimotor neuropathy	4577	MT-TV	ORPHA:255210
HP:0007141	Sensorimotor neuropathy	4508	MT-ATP6	ORPHA:255210
HP:0007141	Sensorimotor neuropathy	4566	MT-TK	ORPHA:255210
HP:0007141	Sensorimotor neuropathy	2581	GALC	ORPHA:206443
HP:0007141	Sensorimotor neuropathy	2581	GALC	ORPHA:206448
HP:0007141	Sensorimotor neuropathy	2581	GALC	ORPHA:206436
HP:0007141	Sensorimotor neuropathy	2581	GALC	OMIM:245200
HP:0007141	Sensorimotor neuropathy	5191	PEX7	OMIM:266500
HP:0007141	Sensorimotor neuropathy	5264	PHYH	OMIM:266500
HP:0007141	Sensorimotor neuropathy	10978	CLP1	ORPHA:411493
HP:0007141	Sensorimotor neuropathy	55768	NGLY1	ORPHA:404454
HP:0007141	Sensorimotor neuropathy	3908	LAMA2	ORPHA:258
HP:0007141	Sensorimotor neuropathy	3908	LAMA2	OMIM:618138
HP:0007141	Sensorimotor neuropathy	5428	POLG	ORPHA:298
HP:0007141	Sensorimotor neuropathy	5428	POLG	OMIM:603041
HP:0007141	Sensorimotor neuropathy	1890	TYMP	ORPHA:298
HP:0007141	Sensorimotor neuropathy	1890	TYMP	OMIM:603041
HP:0007141	Sensorimotor neuropathy	3980	LIG3	ORPHA:298
HP:0007141	Sensorimotor neuropathy	10059	DNM1L	ORPHA:98673
HP:0007141	Sensorimotor neuropathy	4976	OPA1	ORPHA:98673
HP:0007141	Sensorimotor neuropathy	4976	OPA1	OMIM:210000
HP:0007141	Sensorimotor neuropathy	547	KIF1A	ORPHA:101010
HP:0007141	Sensorimotor neuropathy	10342	TFG	ORPHA:431329
HP:0007141	Sensorimotor neuropathy	28958	COA3	OMIM:619058
HP:0007141	Sensorimotor neuropathy	8888	MCM3AP	OMIM:618124
HP:0007141	Sensorimotor neuropathy	7345	UCHL1	OMIM:615491
HP:0007141	Sensorimotor neuropathy	215	ABCD1	ORPHA:139396
HP:0007141	Sensorimotor neuropathy	4358	MPV17	OMIM:256810
HP:0007141	Sensorimotor neuropathy	5173	PDYN	OMIM:610245
HP:0007141	Sensorimotor neuropathy	5190	PEX6	ORPHA:95433
HP:0007141	Sensorimotor neuropathy	8398	PLA2G6	ORPHA:35069
HP:0007141	Sensorimotor neuropathy	54332	GDAP1	ORPHA:101097
HP:0007141	Sensorimotor neuropathy	51608	GET4	OMIM:620200
HP:0007141	Sensorimotor neuropathy	10939	AFG3L2	ORPHA:313772
HP:0007141	Sensorimotor neuropathy	10939	AFG3L2	OMIM:614487
HP:0007141	Sensorimotor neuropathy	55187	VPS13D	ORPHA:95434
HP:0007141	Sensorimotor neuropathy	27072	VPS41	ORPHA:95434
HP:0007141	Sensorimotor neuropathy	84334	COA8	OMIM:619061
HP:0007141	Sensorimotor neuropathy	2583	B4GALNT1	ORPHA:101006
HP:0007141	Sensorimotor neuropathy	112812	FDX2	OMIM:251900
HP:0007141	Sensorimotor neuropathy	26278	SACS	ORPHA:98
HP:0007141	Sensorimotor neuropathy	191	AHCY	ORPHA:88618
HP:0007141	Sensorimotor neuropathy	9517	SPTLC2	OMIM:613640
HP:0007141	Sensorimotor neuropathy	80208	SPG11	ORPHA:2822
HP:0007141	Sensorimotor neuropathy	26090	ABHD12	OMIM:612674
HP:0007141	Sensorimotor neuropathy	2705	GJB1	ORPHA:1175
HP:0007141	Sensorimotor neuropathy	5376	PMP22	ORPHA:3115
HP:0007141	Sensorimotor neuropathy	5376	PMP22	ORPHA:640
HP:0007141	Sensorimotor neuropathy	4359	MPZ	ORPHA:3115
HP:0007141	Sensorimotor neuropathy	3475	IFRD1	ORPHA:98771
HP:0007141	Sensorimotor neuropathy	9997	SCO2	OMIM:604377
HP:0007141	Sensorimotor neuropathy	9131	AIFM1	ORPHA:101078
HP:0007141	Sensorimotor neuropathy	7415	VCP	ORPHA:435387
HP:0007141	Sensorimotor neuropathy	55699	IARS2	OMIM:616007
HP:0007141	Sensorimotor neuropathy	23533	PIK3R5	ORPHA:64753
HP:0007141	Sensorimotor neuropathy	23064	SETX	ORPHA:64753
HP:0007141	Sensorimotor neuropathy	4744	NEFH	OMIM:616924
HP:0007141	Sensorimotor neuropathy	4361	MRE11	ORPHA:251347
HP:0007141	Sensorimotor neuropathy	3032	HADHB	ORPHA:746
HP:0007141	Sensorimotor neuropathy	3030	HADHA	ORPHA:746
HP:0007141	Sensorimotor neuropathy	22934	RPIA	OMIM:608611
HP:0007141	Sensorimotor neuropathy	476	ATP1A1	OMIM:618036
HP:0007141	Sensorimotor neuropathy	5165	PDK3	ORPHA:352675
HP:0007141	Sensorimotor neuropathy	3295	HSD17B4	OMIM:233400
HP:0007141	Sensorimotor neuropathy	23529	CLCF1	OMIM:610313
HP:0007141	Sensorimotor neuropathy	7443	VRK1	OMIM:607596
HP:0007141	Sensorimotor neuropathy	9516	LITAF	OMIM:601098
HP:0007141	Sensorimotor neuropathy	5981	RFC1	ORPHA:504476
HP:0007141	Sensorimotor neuropathy	11117	EMILIN1	OMIM:620080
HP:0007141	Sensorimotor neuropathy	7515	XRCC1	OMIM:617633
HP:0007141	Sensorimotor neuropathy	6240	RRM1	OMIM:620647
HP:0007141	Sensorimotor neuropathy	5660	PSAP	ORPHA:206436
HP:0007141	Sensorimotor neuropathy	5611	DNAJC3	ORPHA:445062
HP:0007141	Sensorimotor neuropathy	3798	KIF5A	ORPHA:100991
HP:0007141	Sensorimotor neuropathy	55532	SLC30A10	OMIM:613280
HP:0007141	Sensorimotor neuropathy	91137	SLC25A46	OMIM:619303
HP:0007141	Sensorimotor neuropathy	3508	IGHMBP2	OMIM:616155
HP:0007141	Sensorimotor neuropathy	79628	SH3TC2	ORPHA:99949
HP:0007141	Sensorimotor neuropathy	57410	SCYL1	OMIM:616719
HP:0007141	Sensorimotor neuropathy	567	B2M	ORPHA:314652
HP:0007141	Sensorimotor neuropathy	50846	DHH	ORPHA:168563
HP:0007141	Sensorimotor neuropathy	2629	GBA1	ORPHA:77259
HP:0007141	Sensorimotor neuropathy	950	SCARB2	ORPHA:77259
HP:0006858	Impaired distal proprioception	10558	SPTLC1	OMIM:162400
HP:0006858	Impaired distal proprioception	4547	MTTP	ORPHA:14
HP:0006858	Impaired distal proprioception	9420	CYP7B1	OMIM:270800
HP:0006858	Impaired distal proprioception	5428	POLG	OMIM:157640
HP:0006858	Impaired distal proprioception	5428	POLG	OMIM:607459
HP:0006858	Impaired distal proprioception	5428	POLG	OMIM:258450
HP:0006858	Impaired distal proprioception	5428	POLG	ORPHA:70595
HP:0006858	Impaired distal proprioception	10397	NDRG1	OMIM:601455
HP:0006858	Impaired distal proprioception	56652	TWNK	OMIM:607459
HP:0006858	Impaired distal proprioception	56652	TWNK	ORPHA:70595
HP:0006858	Impaired distal proprioception	55703	POLR3B	OMIM:619742
HP:0006858	Impaired distal proprioception	547	KIF1A	OMIM:614213
HP:0006858	Impaired distal proprioception	22880	MORC2	OMIM:616688
HP:0006858	Impaired distal proprioception	7515	XRCC1	OMIM:617633
HP:0006858	Impaired distal proprioception	55775	TDP1	OMIM:607250
HP:0006858	Impaired distal proprioception	55775	TDP1	ORPHA:94124
HP:0006858	Impaired distal proprioception	4358	MPV17	OMIM:256810
HP:0006858	Impaired distal proprioception	54332	GDAP1	ORPHA:99948
HP:0006858	Impaired distal proprioception	54332	GDAP1	ORPHA:101097
HP:0006858	Impaired distal proprioception	55157	DARS2	ORPHA:137898
HP:0006858	Impaired distal proprioception	5173	PDYN	OMIM:610245
HP:0006858	Impaired distal proprioception	81790	RNF170	OMIM:608984
HP:0006858	Impaired distal proprioception	26580	BSCL2	OMIM:270685
HP:0006858	Impaired distal proprioception	11128	POLR3A	ORPHA:447896
HP:0007057	Poor hand-eye coordination	6535	SLC6A8	OMIM:300352
HP:0007057	Poor hand-eye coordination	9881	TRANK1	ORPHA:33543
HP:0007057	Poor hand-eye coordination	165918	RNF168	ORPHA:420741
HP:0007058	Generalized cerebral atrophy/hypoplasia	8398	PLA2G6	ORPHA:199351
HP:0007058	Generalized cerebral atrophy/hypoplasia	6908	TBP	ORPHA:98759
HP:0007058	Generalized cerebral atrophy/hypoplasia	6335	SCN9A	ORPHA:36387
HP:0007058	Generalized cerebral atrophy/hypoplasia	112755	STX1B	ORPHA:36387
HP:0007058	Generalized cerebral atrophy/hypoplasia	2563	GABRD	ORPHA:36387
HP:0007058	Generalized cerebral atrophy/hypoplasia	6326	SCN2A	ORPHA:36387
HP:0007058	Generalized cerebral atrophy/hypoplasia	112476	PRRT2	ORPHA:36387
HP:0007058	Generalized cerebral atrophy/hypoplasia	6323	SCN1A	ORPHA:36387
HP:0007058	Generalized cerebral atrophy/hypoplasia	6324	SCN1B	ORPHA:36387
HP:0007058	Generalized cerebral atrophy/hypoplasia	348980	HCN1	ORPHA:36387
HP:0007058	Generalized cerebral atrophy/hypoplasia	2258	FGF13	ORPHA:36387
HP:0007058	Generalized cerebral atrophy/hypoplasia	84059	ADGRV1	ORPHA:36387
HP:0007058	Generalized cerebral atrophy/hypoplasia	2566	GABRG2	ORPHA:36387
HP:0003444	EMG: chronic denervation signs	410	ARSA	ORPHA:309271
HP:0003444	EMG: chronic denervation signs	410	ARSA	ORPHA:309256
HP:0003444	EMG: chronic denervation signs	410	ARSA	ORPHA:309263
HP:0003444	EMG: chronic denervation signs	5660	PSAP	ORPHA:309271
HP:0003444	EMG: chronic denervation signs	5660	PSAP	ORPHA:309256
HP:0003444	EMG: chronic denervation signs	5660	PSAP	ORPHA:309263
HP:0003444	EMG: chronic denervation signs	427	ASAH1	ORPHA:333
HP:0003444	EMG: chronic denervation signs	4358	MPV17	OMIM:618400
HP:0003444	EMG: chronic denervation signs	3094	HINT1	ORPHA:324442
HP:0003444	EMG: chronic denervation signs	57679	ALS2	OMIM:205100
HP:0003444	EMG: chronic denervation signs	81545	FBXO38	OMIM:615575
HP:0003444	EMG: chronic denervation signs	50717	DCAF8	OMIM:610100
HP:0003444	EMG: chronic denervation signs	5631	PRPS1	ORPHA:1187
HP:0003444	EMG: chronic denervation signs	55681	SCYL2	ORPHA:1143
HP:0003444	EMG: chronic denervation signs	84570	COL25A1	ORPHA:1143
HP:0003444	EMG: chronic denervation signs	57222	ERGIC1	ORPHA:1143
HP:0003444	EMG: chronic denervation signs	93627	TBCK	OMIM:616900
HP:0003444	EMG: chronic denervation signs	93627	TBCK	ORPHA:488632
HP:0003444	EMG: chronic denervation signs	7415	VCP	OMIM:613954
HP:0003444	EMG: chronic denervation signs	7415	VCP	ORPHA:52430
HP:0003444	EMG: chronic denervation signs	9997	SCO2	ORPHA:521411
HP:0003444	EMG: chronic denervation signs	8398	PLA2G6	ORPHA:35069
HP:0003444	EMG: chronic denervation signs	8398	PLA2G6	OMIM:256600
HP:0003444	EMG: chronic denervation signs	6606	SMN1	OMIM:253400
HP:0003444	EMG: chronic denervation signs	6607	SMN2	OMIM:253400
HP:0003444	EMG: chronic denervation signs	26353	HSPB8	OMIM:608673
HP:0003444	EMG: chronic denervation signs	6687	SPG7	ORPHA:35689
HP:0003444	EMG: chronic denervation signs	6905	TBCE	ORPHA:496756
HP:0003444	EMG: chronic denervation signs	79628	SH3TC2	ORPHA:99949
HP:0003444	EMG: chronic denervation signs	9927	MFN2	ORPHA:99947
HP:0003444	EMG: chronic denervation signs	3315	HSPB1	ORPHA:99940
HP:0003444	EMG: chronic denervation signs	9990	SLC12A6	OMIM:218000
HP:0003444	EMG: chronic denervation signs	3178	HNRNPA1	ORPHA:52430
HP:0003444	EMG: chronic denervation signs	3181	HNRNPA2B1	ORPHA:52430
HP:0003444	EMG: chronic denervation signs	4976	OPA1	ORPHA:1215
HP:0033190	Hypertrichotic hyperpigmented patch	55315	SLC29A3	OMIM:602782
HP:0033192	Decreased circulating selenium concentration	7234	TRU-TCA1-1	OMIM:620198
HP:0033193	Ballooning hepatocyte degeneration	54914	FOCAD	OMIM:619991
HP:0033193	Ballooning hepatocyte degeneration	10165	SLC25A13	OMIM:603471
HP:0033194	Perioral erythema	6868	ADAM17	OMIM:614328
HP:0033194	Perioral erythema	55630	SLC39A4	OMIM:201100
HP:0033194	Perioral erythema	6720	SREBF1	OMIM:619016
HP:0033194	Perioral erythema	57152	SLURP1	OMIM:248300
HP:0033195	Perianal erythema	51360	MBTPS2	OMIM:308205
HP:0033195	Perianal erythema	6868	ADAM17	OMIM:614328
HP:0033195	Perianal erythema	55630	SLC39A4	OMIM:201100
HP:0033196	Portal inflammation	9968	MED12	OMIM:301068
HP:0033196	Portal inflammation	5244	ABCB4	OMIM:602347
HP:0033196	Portal inflammation	5244	ABCB4	OMIM:600803
HP:0033196	Portal inflammation	8772	FADD	OMIM:613759
HP:0033196	Portal inflammation	54914	FOCAD	OMIM:619991
HP:0033196	Portal inflammation	10165	SLC25A13	OMIM:603471
HP:0012362	Abnormal sialylation of O-linked protein glycosylation	7355	SLC35A2	ORPHA:356961
HP:0012362	Abnormal sialylation of O-linked protein glycosylation	54344	DPM3	ORPHA:263494
HP:0012363	Decreased sialylation of O-linked protein glycosylation	7355	SLC35A2	ORPHA:356961
HP:0012363	Decreased sialylation of O-linked protein glycosylation	54344	DPM3	ORPHA:263494
HP:0012364	Decreased urinary potassium	866	SERPINA6	OMIM:611489
HP:0012364	Decreased urinary potassium	100134444	KCNJ18	ORPHA:79102
HP:0012364	Decreased urinary potassium	2556	GABRA3	ORPHA:79102
HP:0012364	Decreased urinary potassium	779	CACNA1S	ORPHA:79102
HP:0012364	Decreased urinary potassium	1188	CLCNKB	ORPHA:358
HP:0012364	Decreased urinary potassium	6559	SLC12A3	ORPHA:358
HP:0012365	Hypophosphaturia	54757	FAM20A	ORPHA:1031
HP:0012366	Basilar invagination	22943	DKK1	ORPHA:268882
HP:0012366	Basilar invagination	126792	B3GALT6	ORPHA:536467
HP:0012366	Basilar invagination	55719	SLF2	OMIM:620184
HP:0012366	Basilar invagination	4617	MYF5	OMIM:618155
HP:0012368	Flat face	9949	AMMECR1	OMIM:300990
HP:0012368	Flat face	9361	LONP1	OMIM:600373
HP:0012368	Flat face	9361	LONP1	ORPHA:1458
HP:0012368	Flat face	5573	PRKAR1A	ORPHA:950
HP:0012368	Flat face	5144	PDE4D	ORPHA:950
HP:0012368	Flat face	5144	PDE4D	ORPHA:439822
HP:0012368	Flat face	1280	COL2A1	OMIM:132450
HP:0012368	Flat face	1280	COL2A1	ORPHA:93315
HP:0012368	Flat face	1280	COL2A1	ORPHA:94068
HP:0012368	Flat face	1280	COL2A1	OMIM:183900
HP:0012368	Flat face	1280	COL2A1	OMIM:151210
HP:0012368	Flat face	1280	COL2A1	ORPHA:93346
HP:0012368	Flat face	5193	PEX12	OMIM:266510
HP:0012368	Flat face	5193	PEX12	OMIM:614859
HP:0012368	Flat face	5193	PEX12	ORPHA:912
HP:0012368	Flat face	2335	FN1	ORPHA:93315
HP:0012368	Flat face	5885	RAD21	OMIM:614701
HP:0012368	Flat face	347734	SLC35B2	OMIM:620269
HP:0012368	Flat face	2720	GLB1	OMIM:230600
HP:0012368	Flat face	5077	PAX3	ORPHA:1529
HP:0012368	Flat face	5077	PAX3	OMIM:122880
HP:0012368	Flat face	2261	FGFR3	ORPHA:93274
HP:0012368	Flat face	2261	FGFR3	ORPHA:1860
HP:0012368	Flat face	10060	ABCC9	OMIM:619719
HP:0012368	Flat face	4125	MAN2B1	ORPHA:309282
HP:0012368	Flat face	6662	SOX9	ORPHA:140
HP:0012368	Flat face	6662	SOX9	OMIM:114290
HP:0012368	Flat face	30008	EFEMP2	OMIM:614437
HP:0012368	Flat face	28960	DCPS	OMIM:616459
HP:0012368	Flat face	10982	MAPRE2	OMIM:616734
HP:0012368	Flat face	999	CDH1	OMIM:119580
HP:0012368	Flat face	5189	PEX1	OMIM:214100
HP:0012368	Flat face	5189	PEX1	ORPHA:912
HP:0012368	Flat face	9126	SMC3	OMIM:610759
HP:0012368	Flat face	4297	KMT2A	OMIM:605130
HP:0012368	Flat face	4297	KMT2A	ORPHA:319182
HP:0012368	Flat face	6595	SMARCA2	OMIM:619293
HP:0012368	Flat face	79158	GNPTAB	ORPHA:576
HP:0012368	Flat face	4148	MATN3	ORPHA:156728
HP:0012368	Flat face	4148	MATN3	OMIM:608728
HP:0012368	Flat face	2263	FGFR2	ORPHA:87
HP:0012368	Flat face	2263	FGFR2	OMIM:101400
HP:0012368	Flat face	2263	FGFR2	OMIM:101200
HP:0012368	Flat face	4621	MYH3	OMIM:193700
HP:0012368	Flat face	818	CAMK2G	OMIM:618522
HP:0012368	Flat face	10082	GPC6	OMIM:258315
HP:0012368	Flat face	10606	PAICS	OMIM:619859
HP:0012368	Flat face	64131	XYLT1	OMIM:615777
HP:0012368	Flat face	546	ATRX	ORPHA:847
HP:0012368	Flat face	5191	PEX7	OMIM:215100
HP:0012368	Flat face	3339	HSPG2	ORPHA:1865
HP:0012368	Flat face	3339	HSPG2	OMIM:224410
HP:0012368	Flat face	3339	HSPG2	OMIM:255800
HP:0012368	Flat face	3339	HSPG2	ORPHA:800
HP:0012368	Flat face	1281	COL3A1	ORPHA:286
HP:0012368	Flat face	1301	COL11A1	ORPHA:560
HP:0012368	Flat face	1301	COL11A1	OMIM:228520
HP:0012368	Flat face	1500	CTNND1	OMIM:617681
HP:0012368	Flat face	54968	TMEM70	OMIM:614052
HP:0012368	Flat face	10524	KAT5	OMIM:619103
HP:0012368	Flat face	4330	MN1	OMIM:618774
HP:0012368	Flat face	8985	PLOD3	OMIM:612394
HP:0012368	Flat face	79813	EHMT1	OMIM:610253
HP:0012368	Flat face	29128	UHRF1	ORPHA:2268
HP:0012368	Flat face	3070	HELLS	ORPHA:2268
HP:0012368	Flat face	1789	DNMT3B	ORPHA:2268
HP:0012368	Flat face	1789	DNMT3B	OMIM:242860
HP:0012368	Flat face	83879	CDCA7	ORPHA:2268
HP:0012368	Flat face	83879	CDCA7	OMIM:616910
HP:0012368	Flat face	9841	ZBTB24	ORPHA:2268
HP:0012368	Flat face	55012	PPP2R3C	OMIM:618419
HP:0012368	Flat face	55969	RAB5IF	OMIM:616994
HP:0012368	Flat face	1009	CDH11	ORPHA:1299
HP:0012368	Flat face	7291	TWIST1	OMIM:101400
HP:0012368	Flat face	7291	TWIST1	OMIM:180750
HP:0012368	Flat face	139285	AMER1	ORPHA:2780
HP:0012368	Flat face	10522	DEAF1	OMIM:615828
HP:0012368	Flat face	26834	RNU4-2	OMIM:620851
HP:0012368	Flat face	54496	PRMT7	ORPHA:464288
HP:0012368	Flat face	3835	KIF22	ORPHA:93360
HP:0012368	Flat face	11285	B4GALT7	OMIM:130070
HP:0012368	Flat face	1836	SLC26A2	OMIM:600972
HP:0012368	Flat face	1836	SLC26A2	ORPHA:93298
HP:0012368	Flat face	9851	KIAA0753	OMIM:619479
HP:0012368	Flat face	9851	KIAA0753	OMIM:617127
HP:0012368	Flat face	7862	BRPF1	OMIM:617333
HP:0012368	Flat face	5063	PAK3	OMIM:300558
HP:0012368	Flat face	79633	FAT4	OMIM:616006
HP:0012368	Flat face	79633	FAT4	ORPHA:2136
HP:0012368	Flat face	9508	ADAMTS3	ORPHA:2136
HP:0012368	Flat face	9508	ADAMTS3	OMIM:618154
HP:0012368	Flat face	147372	CCBE1	ORPHA:2136
HP:0012368	Flat face	147372	CCBE1	OMIM:235510
HP:0012368	Flat face	4659	PPP1R12A	OMIM:618820
HP:0012368	Flat face	5828	PEX2	OMIM:614866
HP:0012368	Flat face	5828	PEX2	ORPHA:912
HP:0012368	Flat face	54499	TMCO1	OMIM:213980
HP:0012368	Flat face	2317	FLNB	ORPHA:503
HP:0012368	Flat face	2317	FLNB	OMIM:150250
HP:0012368	Flat face	285362	SUMF1	OMIM:272200
HP:0012368	Flat face	23545	ATP6V0A2	OMIM:219200
HP:0012368	Flat face	5727	PTCH1	OMIM:610828
HP:0012368	Flat face	2990	GUSB	ORPHA:584
HP:0012368	Flat face	4094	MAF	ORPHA:1272
HP:0012368	Flat face	4094	MAF	OMIM:601088
HP:0012368	Flat face	2571	GAD1	OMIM:619124
HP:0012368	Flat face	203068	TUBB	OMIM:156610
HP:0012368	Flat face	54928	BPNT2	OMIM:614078
HP:0012368	Flat face	202018	TAPT1	OMIM:616897
HP:0012368	Flat face	55670	PEX26	OMIM:614872
HP:0012368	Flat face	55670	PEX26	ORPHA:912
HP:0012368	Flat face	126792	B3GALT6	OMIM:271640
HP:0012368	Flat face	126792	B3GALT6	OMIM:615349
HP:0012368	Flat face	4920	ROR2	OMIM:268310
HP:0012368	Flat face	9321	TRIP11	OMIM:200600
HP:0012368	Flat face	9321	TRIP11	ORPHA:93299
HP:0012368	Flat face	85365	ALG2	OMIM:607906
HP:0012368	Flat face	64116	SLC39A8	ORPHA:468699
HP:0012368	Flat face	79791	FBXO31	OMIM:615979
HP:0012368	Flat face	1302	COL11A2	ORPHA:1427
HP:0012368	Flat face	7474	WNT5A	OMIM:180700
HP:0012368	Flat face	1855	DVL1	OMIM:180700
HP:0012368	Flat face	50945	TBX22	ORPHA:921
HP:0012368	Flat face	10682	EBP	OMIM:302960
HP:0012368	Flat face	9469	CHST3	OMIM:245600
HP:0012368	Flat face	26229	B3GAT3	OMIM:245600
HP:0012368	Flat face	1387	CREBBP	OMIM:618332
HP:0012368	Flat face	2033	EP300	OMIM:618333
HP:0012368	Flat face	1297	COL9A1	OMIM:614134
HP:0012368	Flat face	1297	COL9A1	ORPHA:250984
HP:0012368	Flat face	1298	COL9A2	ORPHA:250984
HP:0012368	Flat face	1299	COL9A3	ORPHA:250984
HP:0012368	Flat face	2316	FLNA	OMIM:311300
HP:0012368	Flat face	5824	PEX19	ORPHA:912
HP:0012368	Flat face	8504	PEX3	ORPHA:912
HP:0012368	Flat face	8799	PEX11B	ORPHA:912
HP:0012368	Flat face	9409	PEX16	ORPHA:912
HP:0012368	Flat face	5190	PEX6	ORPHA:912
HP:0012368	Flat face	5830	PEX5	ORPHA:912
HP:0012368	Flat face	5194	PEX13	ORPHA:912
HP:0012368	Flat face	5195	PEX14	ORPHA:912
HP:0012368	Flat face	5192	PEX10	ORPHA:912
HP:0012368	Flat face	9898	UBAP2L	OMIM:620494
HP:0010668	Abnormal zygomatic bone morphology	50964	SOST	OMIM:269500
HP:0010668	Abnormal zygomatic bone morphology	1280	COL2A1	OMIM:271700
HP:0010668	Abnormal zygomatic bone morphology	1280	COL2A1	OMIM:108300
HP:0010668	Abnormal zygomatic bone morphology	1280	COL2A1	OMIM:156550
HP:0010668	Abnormal zygomatic bone morphology	1280	COL2A1	ORPHA:166100
HP:0010668	Abnormal zygomatic bone morphology	1280	COL2A1	OMIM:183900
HP:0010668	Abnormal zygomatic bone morphology	1280	COL2A1	ORPHA:85166
HP:0010668	Abnormal zygomatic bone morphology	10128	LRPPRC	OMIM:220111
HP:0010668	Abnormal zygomatic bone morphology	7528	YY1	ORPHA:506358
HP:0010668	Abnormal zygomatic bone morphology	7528	YY1	OMIM:617557
HP:0010668	Abnormal zygomatic bone morphology	2077	ERF	OMIM:600775
HP:0010668	Abnormal zygomatic bone morphology	9131	AIFM1	OMIM:300232
HP:0010668	Abnormal zygomatic bone morphology	6535	SLC6A8	OMIM:300352
HP:0010668	Abnormal zygomatic bone morphology	6535	SLC6A8	ORPHA:52503
HP:0010668	Abnormal zygomatic bone morphology	11253	MAN1B1	ORPHA:397941
HP:0010668	Abnormal zygomatic bone morphology	11253	MAN1B1	OMIM:614202
HP:0010668	Abnormal zygomatic bone morphology	10262	SF3B4	OMIM:154400
HP:0010668	Abnormal zygomatic bone morphology	10262	SF3B4	ORPHA:1788
HP:0010668	Abnormal zygomatic bone morphology	2200	FBN1	ORPHA:1885
HP:0010668	Abnormal zygomatic bone morphology	2200	FBN1	OMIM:154700
HP:0010668	Abnormal zygomatic bone morphology	54507	ADAMTSL4	ORPHA:1885
HP:0010668	Abnormal zygomatic bone morphology	8425	LTBP4	OMIM:613177
HP:0010668	Abnormal zygomatic bone morphology	652	BMP4	ORPHA:828
HP:0010668	Abnormal zygomatic bone morphology	55624	POMGNT1	OMIM:253280
HP:0010668	Abnormal zygomatic bone morphology	2261	FGFR3	ORPHA:53271
HP:0010668	Abnormal zygomatic bone morphology	2261	FGFR3	ORPHA:93262
HP:0010668	Abnormal zygomatic bone morphology	2261	FGFR3	OMIM:146000
HP:0010668	Abnormal zygomatic bone morphology	2261	FGFR3	OMIM:100800
HP:0010668	Abnormal zygomatic bone morphology	2261	FGFR3	OMIM:602849
HP:0010668	Abnormal zygomatic bone morphology	55777	MBD5	ORPHA:228402
HP:0010668	Abnormal zygomatic bone morphology	3636	INPPL1	ORPHA:3144
HP:0010668	Abnormal zygomatic bone morphology	23169	SLC35D1	ORPHA:3144
HP:0010668	Abnormal zygomatic bone morphology	23169	SLC35D1	OMIM:269250
HP:0010668	Abnormal zygomatic bone morphology	10992	SF3B2	OMIM:164210
HP:0010668	Abnormal zygomatic bone morphology	4000	LMNA	OMIM:176670
HP:0010668	Abnormal zygomatic bone morphology	118987	PDZD8	OMIM:620021
HP:0010668	Abnormal zygomatic bone morphology	23126	POGZ	ORPHA:468678
HP:0010668	Abnormal zygomatic bone morphology	23126	POGZ	OMIM:616364
HP:0010668	Abnormal zygomatic bone morphology	2316	FLNA	OMIM:300244
HP:0010668	Abnormal zygomatic bone morphology	2316	FLNA	ORPHA:90652
HP:0010668	Abnormal zygomatic bone morphology	2316	FLNA	OMIM:304120
HP:0010668	Abnormal zygomatic bone morphology	2316	FLNA	OMIM:311300
HP:0010668	Abnormal zygomatic bone morphology	267010	RNU12	OMIM:603116
HP:0010668	Abnormal zygomatic bone morphology	267010	RNU12	ORPHA:85199
HP:0010668	Abnormal zygomatic bone morphology	613	BCR	ORPHA:261330
HP:0010668	Abnormal zygomatic bone morphology	1399	CRKL	ORPHA:261330
HP:0010668	Abnormal zygomatic bone morphology	5594	MAPK1	ORPHA:261330
HP:0010668	Abnormal zygomatic bone morphology	80816	ASXL3	OMIM:615485
HP:0010668	Abnormal zygomatic bone morphology	1723	DHODH	OMIM:263750
HP:0010668	Abnormal zygomatic bone morphology	1723	DHODH	ORPHA:246
HP:0010668	Abnormal zygomatic bone morphology	10084	PQBP1	ORPHA:93946
HP:0010668	Abnormal zygomatic bone morphology	10084	PQBP1	OMIM:309500
HP:0010668	Abnormal zygomatic bone morphology	29072	SETD2	OMIM:620157
HP:0010668	Abnormal zygomatic bone morphology	29072	SETD2	OMIM:620155
HP:0010668	Abnormal zygomatic bone morphology	29072	SETD2	OMIM:616831
HP:0010668	Abnormal zygomatic bone morphology	5189	PEX1	OMIM:214100
HP:0010668	Abnormal zygomatic bone morphology	4038	LRP4	ORPHA:3258
HP:0010668	Abnormal zygomatic bone morphology	4038	LRP4	OMIM:212780
HP:0010668	Abnormal zygomatic bone morphology	324	APC	ORPHA:3258
HP:0010668	Abnormal zygomatic bone morphology	55650	PIGV	OMIM:239300
HP:0010668	Abnormal zygomatic bone morphology	1301	COL11A1	OMIM:154780
HP:0010668	Abnormal zygomatic bone morphology	1301	COL11A1	OMIM:228520
HP:0010668	Abnormal zygomatic bone morphology	1301	COL11A1	OMIM:604841
HP:0010668	Abnormal zygomatic bone morphology	1301	COL11A1	ORPHA:560
HP:0010668	Abnormal zygomatic bone morphology	7021	TFAP2B	ORPHA:46627
HP:0010668	Abnormal zygomatic bone morphology	4853	NOTCH2	OMIM:102500
HP:0010668	Abnormal zygomatic bone morphology	9968	MED12	ORPHA:93932
HP:0010668	Abnormal zygomatic bone morphology	9326	ZNHIT3	ORPHA:2836
HP:0010668	Abnormal zygomatic bone morphology	5426	POLE	OMIM:615139
HP:0010668	Abnormal zygomatic bone morphology	51109	RDH11	OMIM:616108
HP:0010668	Abnormal zygomatic bone morphology	51109	RDH11	ORPHA:436245
HP:0010668	Abnormal zygomatic bone morphology	55858	TMEM165	OMIM:614727
HP:0010668	Abnormal zygomatic bone morphology	2317	FLNB	OMIM:108721
HP:0010668	Abnormal zygomatic bone morphology	2317	FLNB	OMIM:108720
HP:0010668	Abnormal zygomatic bone morphology	2317	FLNB	OMIM:150250
HP:0010668	Abnormal zygomatic bone morphology	2317	FLNB	ORPHA:503
HP:0010668	Abnormal zygomatic bone morphology	2263	FGFR2	ORPHA:93259
HP:0010668	Abnormal zygomatic bone morphology	2263	FGFR2	OMIM:101400
HP:0010668	Abnormal zygomatic bone morphology	2263	FGFR2	OMIM:123790
HP:0010668	Abnormal zygomatic bone morphology	2263	FGFR2	OMIM:101200
HP:0010668	Abnormal zygomatic bone morphology	2263	FGFR2	OMIM:207410
HP:0010668	Abnormal zygomatic bone morphology	2263	FGFR2	OMIM:614592
HP:0010668	Abnormal zygomatic bone morphology	2263	FGFR2	ORPHA:1555
HP:0010668	Abnormal zygomatic bone morphology	2263	FGFR2	OMIM:123150
HP:0010668	Abnormal zygomatic bone morphology	5191	PEX7	OMIM:215100
HP:0010668	Abnormal zygomatic bone morphology	7020	TFAP2A	OMIM:113620
HP:0010668	Abnormal zygomatic bone morphology	1302	COL11A2	OMIM:184840
HP:0010668	Abnormal zygomatic bone morphology	1302	COL11A2	OMIM:614524
HP:0010668	Abnormal zygomatic bone morphology	1302	COL11A2	OMIM:215150
HP:0010668	Abnormal zygomatic bone morphology	1302	COL11A2	ORPHA:166100
HP:0010668	Abnormal zygomatic bone morphology	10484	SEC23A	OMIM:607812
HP:0010668	Abnormal zygomatic bone morphology	860	RUNX2	OMIM:119600
HP:0010668	Abnormal zygomatic bone morphology	79813	EHMT1	OMIM:610253
HP:0010668	Abnormal zygomatic bone morphology	7291	TWIST1	OMIM:101400
HP:0010668	Abnormal zygomatic bone morphology	7291	TWIST1	OMIM:180750
HP:0010668	Abnormal zygomatic bone morphology	5144	PDE4D	OMIM:614613
HP:0010668	Abnormal zygomatic bone morphology	5144	PDE4D	ORPHA:439822
HP:0010668	Abnormal zygomatic bone morphology	23314	SATB2	OMIM:612313
HP:0010668	Abnormal zygomatic bone morphology	55636	CHD7	OMIM:214800
HP:0010668	Abnormal zygomatic bone morphology	8642	DCHS1	OMIM:601390
HP:0010668	Abnormal zygomatic bone morphology	26040	SETBP1	OMIM:269150
HP:0010668	Abnormal zygomatic bone morphology	374654	KIF7	OMIM:607131
HP:0010668	Abnormal zygomatic bone morphology	2296	FOXC1	OMIM:602482
HP:0010668	Abnormal zygomatic bone morphology	1789	DNMT3B	OMIM:242860
HP:0010668	Abnormal zygomatic bone morphology	1836	SLC26A2	OMIM:600972
HP:0010668	Abnormal zygomatic bone morphology	1836	SLC26A2	OMIM:256050
HP:0010668	Abnormal zygomatic bone morphology	5447	POR	OMIM:201750
HP:0010668	Abnormal zygomatic bone morphology	5447	POR	OMIM:207410
HP:0010668	Abnormal zygomatic bone morphology	8558	CDK10	OMIM:617694
HP:0010668	Abnormal zygomatic bone morphology	4803	NGF	ORPHA:64752
HP:0010668	Abnormal zygomatic bone morphology	4914	NTRK1	ORPHA:64752
HP:0010668	Abnormal zygomatic bone morphology	11128	POLR3A	OMIM:264090
HP:0010668	Abnormal zygomatic bone morphology	11128	POLR3A	ORPHA:3455
HP:0010668	Abnormal zygomatic bone morphology	157570	ESCO2	ORPHA:3103
HP:0010668	Abnormal zygomatic bone morphology	157570	ESCO2	OMIM:268300
HP:0010668	Abnormal zygomatic bone morphology	145258	GSC	OMIM:602471
HP:0010668	Abnormal zygomatic bone morphology	2736	GLI2	OMIM:610829
HP:0010668	Abnormal zygomatic bone morphology	4036	LRP2	OMIM:222448
HP:0010668	Abnormal zygomatic bone morphology	79718	TBL1XR1	OMIM:602342
HP:0010668	Abnormal zygomatic bone morphology	79718	TBL1XR1	ORPHA:487825
HP:0010668	Abnormal zygomatic bone morphology	26137	ZBTB20	OMIM:259050
HP:0010668	Abnormal zygomatic bone morphology	4089	SMAD4	OMIM:139210
HP:0010668	Abnormal zygomatic bone morphology	4849	CNOT3	OMIM:618672
HP:0010668	Abnormal zygomatic bone morphology	641	BLM	OMIM:210900
HP:0010668	Abnormal zygomatic bone morphology	641	BLM	ORPHA:125
HP:0010668	Abnormal zygomatic bone morphology	57492	ARID1B	ORPHA:251056
HP:0010668	Abnormal zygomatic bone morphology	6231	RPS26	OMIM:613309
HP:0010668	Abnormal zygomatic bone morphology	2006	ELN	OMIM:194050
HP:0010668	Abnormal zygomatic bone morphology	51085	MLXIPL	OMIM:194050
HP:0010668	Abnormal zygomatic bone morphology	124583	CANT1	OMIM:251450
HP:0010668	Abnormal zygomatic bone morphology	3187	HNRNPH1	OMIM:620083
HP:0010668	Abnormal zygomatic bone morphology	4920	ROR2	OMIM:268310
HP:0010668	Abnormal zygomatic bone morphology	3835	KIF22	OMIM:603546
HP:0010668	Abnormal zygomatic bone morphology	7030	TFE3	OMIM:301066
HP:0010668	Abnormal zygomatic bone morphology	3339	HSPG2	OMIM:224410
HP:0010668	Abnormal zygomatic bone morphology	3339	HSPG2	OMIM:255800
HP:0010668	Abnormal zygomatic bone morphology	10743	RAI1	OMIM:182290
HP:0010668	Abnormal zygomatic bone morphology	6949	TCOF1	OMIM:154500
HP:0010668	Abnormal zygomatic bone morphology	6949	TCOF1	ORPHA:861
HP:0010668	Abnormal zygomatic bone morphology	27086	FOXP1	OMIM:613670
HP:0010668	Abnormal zygomatic bone morphology	546	ATRX	OMIM:309580
HP:0010668	Abnormal zygomatic bone morphology	546	ATRX	OMIM:301040
HP:0010668	Abnormal zygomatic bone morphology	10735	STAG2	ORPHA:521258
HP:0010668	Abnormal zygomatic bone morphology	5818	NECTIN1	OMIM:225060
HP:0010668	Abnormal zygomatic bone morphology	23483	TGDS	ORPHA:1388
HP:0010668	Abnormal zygomatic bone morphology	2260	FGFR1	OMIM:166250
HP:0010668	Abnormal zygomatic bone morphology	2260	FGFR1	OMIM:123150
HP:0010668	Abnormal zygomatic bone morphology	22930	RAB3GAP1	ORPHA:1387
HP:0010668	Abnormal zygomatic bone morphology	25782	RAB3GAP2	ORPHA:1387
HP:0010668	Abnormal zygomatic bone morphology	4088	SMAD3	OMIM:613795
HP:0010668	Abnormal zygomatic bone morphology	4088	SMAD3	ORPHA:60030
HP:0010668	Abnormal zygomatic bone morphology	4088	SMAD3	ORPHA:284984
HP:0010668	Abnormal zygomatic bone morphology	7048	TGFBR2	OMIM:610168
HP:0010668	Abnormal zygomatic bone morphology	7048	TGFBR2	ORPHA:60030
HP:0010668	Abnormal zygomatic bone morphology	51574	LARP7	ORPHA:319671
HP:0010668	Abnormal zygomatic bone morphology	51574	LARP7	OMIM:615071
HP:0010668	Abnormal zygomatic bone morphology	147372	CCBE1	OMIM:235510
HP:0010668	Abnormal zygomatic bone morphology	50945	TBX22	ORPHA:921
HP:0010668	Abnormal zygomatic bone morphology	701	BUB1B	OMIM:257300
HP:0010668	Abnormal zygomatic bone morphology	10682	EBP	OMIM:302960
HP:0010668	Abnormal zygomatic bone morphology	8626	TP63	ORPHA:69085
HP:0010668	Abnormal zygomatic bone morphology	8626	TP63	OMIM:604292
HP:0010668	Abnormal zygomatic bone morphology	4883	NPR3	OMIM:619543
HP:0010668	Abnormal zygomatic bone morphology	55212	BBS7	OMIM:615984
HP:0010668	Abnormal zygomatic bone morphology	2703	GJA8	OMIM:612474
HP:0010668	Abnormal zygomatic bone morphology	2702	GJA5	OMIM:612474
HP:0010668	Abnormal zygomatic bone morphology	7046	TGFBR1	ORPHA:60030
HP:0010668	Abnormal zygomatic bone morphology	7046	TGFBR1	OMIM:609192
HP:0010668	Abnormal zygomatic bone morphology	10526	IPO8	ORPHA:60030
HP:0010668	Abnormal zygomatic bone morphology	7042	TGFB2	ORPHA:60030
HP:0010668	Abnormal zygomatic bone morphology	7042	TGFB2	OMIM:614816
HP:0010668	Abnormal zygomatic bone morphology	7043	TGFB3	ORPHA:60030
HP:0010668	Abnormal zygomatic bone morphology	4087	SMAD2	ORPHA:60030
HP:0010668	Abnormal zygomatic bone morphology	9533	POLR1C	OMIM:248390
HP:0010668	Abnormal zygomatic bone morphology	9533	POLR1C	ORPHA:861
HP:0010668	Abnormal zygomatic bone morphology	1297	COL9A1	ORPHA:250984
HP:0010668	Abnormal zygomatic bone morphology	1298	COL9A2	ORPHA:250984
HP:0010668	Abnormal zygomatic bone morphology	1299	COL9A3	ORPHA:250984
HP:0010668	Abnormal zygomatic bone morphology	78987	CRELD1	OMIM:620771
HP:0010668	Abnormal zygomatic bone morphology	84181	CHD6	ORPHA:2108
HP:0010668	Abnormal zygomatic bone morphology	4921	DDR2	OMIM:271665
HP:0010668	Abnormal zygomatic bone morphology	8925	HERC1	OMIM:617011
HP:0010668	Abnormal zygomatic bone morphology	8925	HERC1	ORPHA:457359
HP:0010668	Abnormal zygomatic bone morphology	5193	PEX12	OMIM:266510
HP:0010668	Abnormal zygomatic bone morphology	65062	TMEM237	OMIM:614424
HP:0010668	Abnormal zygomatic bone morphology	89970	RSPRY1	OMIM:616723
HP:0010668	Abnormal zygomatic bone morphology	89970	RSPRY1	ORPHA:457395
HP:0010668	Abnormal zygomatic bone morphology	23363	OBSL1	OMIM:612921
HP:0010668	Abnormal zygomatic bone morphology	85358	SHANK3	OMIM:606232
HP:0010668	Abnormal zygomatic bone morphology	50814	NSDHL	ORPHA:251383
HP:0010668	Abnormal zygomatic bone morphology	50814	NSDHL	OMIM:300831
HP:0010668	Abnormal zygomatic bone morphology	5745	PTH1R	OMIM:215045
HP:0010668	Abnormal zygomatic bone morphology	5745	PTH1R	ORPHA:50945
HP:0010668	Abnormal zygomatic bone morphology	128869	PIGU	OMIM:618590
HP:0010668	Abnormal zygomatic bone morphology	650	BMP2	ORPHA:261295
HP:0010668	Abnormal zygomatic bone morphology	91179	SCARF2	OMIM:600920
HP:0010668	Abnormal zygomatic bone morphology	4854	NOTCH3	OMIM:130720
HP:0010668	Abnormal zygomatic bone morphology	4854	NOTCH3	ORPHA:2789
HP:0010668	Abnormal zygomatic bone morphology	1289	COL5A1	OMIM:619329
HP:0010668	Abnormal zygomatic bone morphology	176	ACAN	OMIM:612813
HP:0010668	Abnormal zygomatic bone morphology	4750	NEK1	OMIM:252100
HP:0010668	Abnormal zygomatic bone morphology	56975	FAM20C	OMIM:259775
HP:0010668	Abnormal zygomatic bone morphology	4763	NF1	OMIM:601321
HP:0010668	Abnormal zygomatic bone morphology	4763	NF1	ORPHA:139474
HP:0010668	Abnormal zygomatic bone morphology	90161	HS6ST2	OMIM:301025
HP:0010668	Abnormal zygomatic bone morphology	1741	DLG3	OMIM:300850
HP:0010668	Abnormal zygomatic bone morphology	3039	HBA1	ORPHA:98791
HP:0010668	Abnormal zygomatic bone morphology	3040	HBA2	ORPHA:98791
HP:0010668	Abnormal zygomatic bone morphology	4621	MYH3	OMIM:193700
HP:0010668	Abnormal zygomatic bone morphology	51132	RLIM	OMIM:300978
HP:0010668	Abnormal zygomatic bone morphology	4125	MAN2B1	OMIM:248500
HP:0010668	Abnormal zygomatic bone morphology	54496	PRMT7	OMIM:617157
HP:0010668	Abnormal zygomatic bone morphology	10082	GPC6	OMIM:258315
HP:0010668	Abnormal zygomatic bone morphology	5831	PYCR1	OMIM:612940
HP:0010668	Abnormal zygomatic bone morphology	5831	PYCR1	ORPHA:2078
HP:0010668	Abnormal zygomatic bone morphology	9820	CUL7	OMIM:273750
HP:0010668	Abnormal zygomatic bone morphology	92344	GORAB	OMIM:231070
HP:0010668	Abnormal zygomatic bone morphology	92344	GORAB	ORPHA:2078
HP:0010668	Abnormal zygomatic bone morphology	3759	KCNJ2	OMIM:170390
HP:0010668	Abnormal zygomatic bone morphology	1312	COMT	ORPHA:567
HP:0010668	Abnormal zygomatic bone morphology	221037	JMJD1C	ORPHA:567
HP:0010668	Abnormal zygomatic bone morphology	2812	GP1BB	ORPHA:567
HP:0010668	Abnormal zygomatic bone morphology	6239	RREB1	ORPHA:567
HP:0010668	Abnormal zygomatic bone morphology	6899	TBX1	ORPHA:567
HP:0010668	Abnormal zygomatic bone morphology	7290	HIRA	ORPHA:567
HP:0010668	Abnormal zygomatic bone morphology	9632	SEC24C	ORPHA:567
HP:0010668	Abnormal zygomatic bone morphology	7353	UFD1	ORPHA:567
HP:0010668	Abnormal zygomatic bone morphology	421	ARVCF	ORPHA:567
HP:0010668	Abnormal zygomatic bone morphology	1009	CDH11	OMIM:211380
HP:0010668	Abnormal zygomatic bone morphology	6898	TAT	ORPHA:28378
HP:0010668	Abnormal zygomatic bone morphology	444	ASPH	OMIM:601552
HP:0010668	Abnormal zygomatic bone morphology	6469	SHH	OMIM:142945
HP:0010668	Abnormal zygomatic bone morphology	7703	PCGF2	OMIM:618371
HP:0010668	Abnormal zygomatic bone morphology	7319	UBE2A	OMIM:300860
HP:0010668	Abnormal zygomatic bone morphology	1277	COL1A1	OMIM:130060
HP:0010668	Abnormal zygomatic bone morphology	9496	TBX4	ORPHA:261279
HP:0010668	Abnormal zygomatic bone morphology	633	BGN	OMIM:300989
HP:0010668	Abnormal zygomatic bone morphology	3977	LIFR	OMIM:601559
HP:0010668	Abnormal zygomatic bone morphology	5277	PIGA	OMIM:300868
HP:0010668	Abnormal zygomatic bone morphology	8985	PLOD3	OMIM:612394
HP:0010668	Abnormal zygomatic bone morphology	79633	FAT4	OMIM:615546
HP:0010668	Abnormal zygomatic bone morphology	9343	EFTUD2	OMIM:610536
HP:0010668	Abnormal zygomatic bone morphology	9343	EFTUD2	ORPHA:79113
HP:0010668	Abnormal zygomatic bone morphology	84172	POLR1B	OMIM:618939
HP:0010668	Abnormal zygomatic bone morphology	84172	POLR1B	ORPHA:861
HP:0010668	Abnormal zygomatic bone morphology	64864	RFX7	OMIM:620330
HP:0010668	Abnormal zygomatic bone morphology	6628	SNRPB	OMIM:117650
HP:0010668	Abnormal zygomatic bone morphology	2892	GRIA3	ORPHA:364028
HP:0010668	Abnormal zygomatic bone morphology	51604	PIGT	ORPHA:369837
HP:0010668	Abnormal zygomatic bone morphology	5702	PSMC3	OMIM:619354
HP:0010668	Abnormal zygomatic bone morphology	4796	TONSL	OMIM:271510
HP:0010668	Abnormal zygomatic bone morphology	23545	ATP6V0A2	OMIM:219200
HP:0010668	Abnormal zygomatic bone morphology	23545	ATP6V0A2	ORPHA:357074
HP:0010668	Abnormal zygomatic bone morphology	23630	KCNE5	ORPHA:86818
HP:0010668	Abnormal zygomatic bone morphology	2182	ACSL4	ORPHA:86818
HP:0010668	Abnormal zygomatic bone morphology	9949	AMMECR1	ORPHA:86818
HP:0010668	Abnormal zygomatic bone morphology	51082	POLR1D	ORPHA:861
HP:0010668	Abnormal zygomatic bone morphology	51082	POLR1D	OMIM:613717
HP:0010668	Abnormal zygomatic bone morphology	4841	NONO	OMIM:300967
HP:0010668	Abnormal zygomatic bone morphology	4841	NONO	ORPHA:466791
HP:0010668	Abnormal zygomatic bone morphology	51715	RAB23	OMIM:201000
HP:0010668	Abnormal zygomatic bone morphology	25839	COG4	ORPHA:85172
HP:0010668	Abnormal zygomatic bone morphology	3756	KCNH1	ORPHA:420561
HP:0010668	Abnormal zygomatic bone morphology	126792	B3GALT6	OMIM:271640
HP:0010668	Abnormal zygomatic bone morphology	9759	HDAC4	OMIM:600430
HP:0010668	Abnormal zygomatic bone morphology	4094	MAF	OMIM:601088
HP:0010668	Abnormal zygomatic bone morphology	4256	MGP	OMIM:245150
HP:0010668	Abnormal zygomatic bone morphology	523	ATP6V1A	ORPHA:357074
HP:0010668	Abnormal zygomatic bone morphology	529	ATP6V1E1	ORPHA:357074
HP:0010668	Abnormal zygomatic bone morphology	529	ATP6V1E1	OMIM:617402
HP:0010668	Abnormal zygomatic bone morphology	29920	PYCR2	OMIM:616420
HP:0010668	Abnormal zygomatic bone morphology	178	AGL	OMIM:232400
HP:0010668	Abnormal zygomatic bone morphology	100151683	RNU4ATAC	ORPHA:2636
HP:0010668	Abnormal zygomatic bone morphology	387	RHOA	OMIM:618727
HP:0010668	Abnormal zygomatic bone morphology	5449	POU1F1	OMIM:613038
HP:0010668	Abnormal zygomatic bone morphology	4693	NDP	ORPHA:649
HP:0010668	Abnormal zygomatic bone morphology	9939	RBM8A	OMIM:274000
HP:0010668	Abnormal zygomatic bone morphology	6496	SIX3	OMIM:157170
HP:0010668	Abnormal zygomatic bone morphology	7474	WNT5A	OMIM:180700
HP:0010668	Abnormal zygomatic bone morphology	1855	DVL1	OMIM:180700
HP:0010668	Abnormal zygomatic bone morphology	9130	FAM50A	OMIM:300261
HP:0010668	Abnormal zygomatic bone morphology	4204	MECP2	OMIM:300260
HP:0010668	Abnormal zygomatic bone morphology	7543	ZFX	OMIM:301118
HP:0010668	Abnormal zygomatic bone morphology	2535	FZD2	ORPHA:93328
HP:0010668	Abnormal zygomatic bone morphology	5077	PAX3	OMIM:122880
HP:0010668	Abnormal zygomatic bone morphology	871	SERPINH1	OMIM:613848
HP:0010668	Abnormal zygomatic bone morphology	4683	NBN	OMIM:251260
HP:0010668	Abnormal zygomatic bone morphology	81887	LAS1L	ORPHA:3459
HP:0010668	Abnormal zygomatic bone morphology	55869	HDAC8	ORPHA:3459
HP:0010668	Abnormal zygomatic bone morphology	9150	CTDP1	OMIM:604168
HP:0010668	Abnormal zygomatic bone morphology	9150	CTDP1	ORPHA:48431
HP:0010668	Abnormal zygomatic bone morphology	286053	NSMCE2	ORPHA:436182
HP:0010668	Abnormal zygomatic bone morphology	7518	XRCC4	ORPHA:436182
HP:0010668	Abnormal zygomatic bone morphology	3043	HBB	ORPHA:231226
HP:0010668	Abnormal zygomatic bone morphology	3043	HBB	ORPHA:231214
HP:0010668	Abnormal zygomatic bone morphology	5295	PIK3R1	ORPHA:3163
HP:0010668	Abnormal zygomatic bone morphology	81031	SLC2A10	ORPHA:3342
HP:0010668	Abnormal zygomatic bone morphology	23019	CNOT1	ORPHA:556955
HP:0010668	Abnormal zygomatic bone morphology	23019	CNOT1	OMIM:618500
HP:0010668	Abnormal zygomatic bone morphology	157680	VPS13B	ORPHA:193
HP:0010668	Abnormal zygomatic bone morphology	51594	NBAS	OMIM:614800
HP:0010668	Abnormal zygomatic bone morphology	6804	STX1A	ORPHA:904
HP:0010668	Abnormal zygomatic bone morphology	7461	CLIP2	ORPHA:904
HP:0010668	Abnormal zygomatic bone morphology	84277	DNAJC30	ORPHA:904
HP:0010668	Abnormal zygomatic bone morphology	8468	FKBP6	ORPHA:904
HP:0010668	Abnormal zygomatic bone morphology	5982	RFC2	ORPHA:904
HP:0010668	Abnormal zygomatic bone morphology	2969	GTF2I	ORPHA:904
HP:0010668	Abnormal zygomatic bone morphology	3984	LIMK1	ORPHA:904
HP:0010668	Abnormal zygomatic bone morphology	9569	GTF2IRD1	ORPHA:904
HP:0010668	Abnormal zygomatic bone morphology	155382	VPS37D	ORPHA:904
HP:0010668	Abnormal zygomatic bone morphology	155368	METTL27	ORPHA:904
HP:0010668	Abnormal zygomatic bone morphology	114049	BUD23	ORPHA:904
HP:0010668	Abnormal zygomatic bone morphology	7458	EIF4H	ORPHA:904
HP:0010668	Abnormal zygomatic bone morphology	84163	GTF2IRD2	ORPHA:904
HP:0010668	Abnormal zygomatic bone morphology	26608	TBL2	ORPHA:904
HP:0010668	Abnormal zygomatic bone morphology	653361	NCF1	ORPHA:904
HP:0010668	Abnormal zygomatic bone morphology	135886	TMEM270	ORPHA:904
HP:0010668	Abnormal zygomatic bone morphology	9031	BAZ1B	ORPHA:904
HP:0010668	Abnormal zygomatic bone morphology	5604	MAP2K1	ORPHA:1340
HP:0010668	Abnormal zygomatic bone morphology	5605	MAP2K2	ORPHA:1340
HP:0010668	Abnormal zygomatic bone morphology	3845	KRAS	ORPHA:1340
HP:0010668	Abnormal zygomatic bone morphology	673	BRAF	ORPHA:1340
HP:0010668	Abnormal zygomatic bone morphology	90459	ERI1	OMIM:620663
HP:0010668	Abnormal zygomatic bone morphology	8481	OFD1	ORPHA:2750
HP:0010668	Abnormal zygomatic bone morphology	5184	PEPD	ORPHA:742
HP:0010668	Abnormal zygomatic bone morphology	117581	TWIST2	ORPHA:920
HP:0010668	Abnormal zygomatic bone morphology	117581	TWIST2	OMIM:200110
HP:0010668	Abnormal zygomatic bone morphology	9723	SEMA3E	ORPHA:138
HP:0010668	Abnormal zygomatic bone morphology	56172	ANKH	OMIM:123000
HP:0010668	Abnormal zygomatic bone morphology	760	CA2	ORPHA:2785
HP:0010668	Abnormal zygomatic bone morphology	25885	POLR1A	OMIM:616462
HP:0033199	Increased circulating interleukin 10 concentration	355	FAS	ORPHA:3261
HP:0033199	Increased circulating interleukin 10 concentration	356	FASLG	ORPHA:3261
HP:0033199	Increased circulating interleukin 10 concentration	843	CASP10	ORPHA:3261
HP:0033199	Increased circulating interleukin 10 concentration	5698	PSMB9	OMIM:620796
HP:0033199	Increased circulating interleukin 10 concentration	868	CBLB	OMIM:620430
HP:0033199	Increased circulating interleukin 10 concentration	8772	FADD	OMIM:613759
HP:0001258	Spastic paraplegia	3912	LAMB1	OMIM:615191
HP:0001258	Spastic paraplegia	23111	SPART	OMIM:275900
HP:0001258	Spastic paraplegia	8504	PEX3	OMIM:617370
HP:0001258	Spastic paraplegia	126129	CPT1C	OMIM:616282
HP:0001258	Spastic paraplegia	79621	RNASEH2B	OMIM:610181
HP:0001258	Spastic paraplegia	9420	CYP7B1	ORPHA:100986
HP:0001258	Spastic paraplegia	9420	CYP7B1	OMIM:270800
HP:0001258	Spastic paraplegia	27247	NFU1	OMIM:620938
HP:0001258	Spastic paraplegia	123606	NIPA1	ORPHA:100988
HP:0001258	Spastic paraplegia	123606	NIPA1	OMIM:600363
HP:0001258	Spastic paraplegia	80821	DDHD1	OMIM:609340
HP:0001258	Spastic paraplegia	10973	ASCC3	OMIM:620700
HP:0001258	Spastic paraplegia	4125	MAN2B1	ORPHA:309282
HP:0001258	Spastic paraplegia	9131	AIFM1	ORPHA:83629
HP:0001258	Spastic paraplegia	6567	SLC16A2	OMIM:300523
HP:0001258	Spastic paraplegia	81790	RNF170	OMIM:619686
HP:0001258	Spastic paraplegia	10908	PNPLA6	ORPHA:139480
HP:0001258	Spastic paraplegia	10908	PNPLA6	OMIM:275400
HP:0001258	Spastic paraplegia	10908	PNPLA6	OMIM:245800
HP:0001258	Spastic paraplegia	55182	RNF220	OMIM:619688
HP:0001258	Spastic paraplegia	518	ATP5MC3	OMIM:619681
HP:0001258	Spastic paraplegia	200205	IBA57	OMIM:616451
HP:0001258	Spastic paraplegia	3897	L1CAM	ORPHA:306617
HP:0001258	Spastic paraplegia	3897	L1CAM	OMIM:303350
HP:0001258	Spastic paraplegia	3897	L1CAM	OMIM:307000
HP:0001258	Spastic paraplegia	3897	L1CAM	ORPHA:2466
HP:0001258	Spastic paraplegia	23431	AP4E1	OMIM:613744
HP:0001258	Spastic paraplegia	547	KIF1A	OMIM:610357
HP:0001258	Spastic paraplegia	9197	SLC33A1	OMIM:612539
HP:0001258	Spastic paraplegia	5077	PAX3	ORPHA:896
HP:0001258	Spastic paraplegia	5077	PAX3	OMIM:148820
HP:0001258	Spastic paraplegia	10166	SLC25A15	ORPHA:415
HP:0001258	Spastic paraplegia	10166	SLC25A15	OMIM:238970
HP:0001258	Spastic paraplegia	25778	DSTYK	OMIM:270750
HP:0001258	Spastic paraplegia	25778	DSTYK	ORPHA:101003
HP:0001258	Spastic paraplegia	51324	SPG21	OMIM:248900
HP:0001258	Spastic paraplegia	10059	DNM1L	ORPHA:98673
HP:0001258	Spastic paraplegia	4976	OPA1	ORPHA:98673
HP:0001258	Spastic paraplegia	4976	OPA1	ORPHA:1215
HP:0001258	Spastic paraplegia	10342	TFG	ORPHA:431329
HP:0001258	Spastic paraplegia	10342	TFG	OMIM:615658
HP:0001258	Spastic paraplegia	4204	MECP2	OMIM:300055
HP:0001258	Spastic paraplegia	7345	UCHL1	OMIM:615491
HP:0001258	Spastic paraplegia	5832	ALDH18A1	OMIM:616586
HP:0001258	Spastic paraplegia	5832	ALDH18A1	OMIM:601162
HP:0001258	Spastic paraplegia	4509	MT-ATP8	ORPHA:254913
HP:0001258	Spastic paraplegia	514	ATP5F1E	ORPHA:254913
HP:0001258	Spastic paraplegia	513	ATP5F1D	ORPHA:254913
HP:0001258	Spastic paraplegia	498	ATP5F1A	ORPHA:254913
HP:0001258	Spastic paraplegia	4508	MT-ATP6	ORPHA:254913
HP:0001258	Spastic paraplegia	84833	ATP5MK	ORPHA:254913
HP:0001258	Spastic paraplegia	91647	ATPAF2	ORPHA:254913
HP:0001258	Spastic paraplegia	64834	ELOVL1	OMIM:618527
HP:0001258	Spastic paraplegia	7920	ABHD16A	OMIM:619735
HP:0001258	Spastic paraplegia	114034	TOE1	OMIM:614969
HP:0001258	Spastic paraplegia	6843	VAMP1	OMIM:108600
HP:0001258	Spastic paraplegia	6843	VAMP1	ORPHA:251282
HP:0001258	Spastic paraplegia	546	ATRX	ORPHA:847
HP:0001258	Spastic paraplegia	6513	SLC2A1	OMIM:601042
HP:0001258	Spastic paraplegia	6513	SLC2A1	ORPHA:168577
HP:0001258	Spastic paraplegia	6513	SLC2A1	ORPHA:53583
HP:0001258	Spastic paraplegia	23400	ATP13A2	OMIM:606693
HP:0001258	Spastic paraplegia	23400	ATP13A2	OMIM:617225
HP:0001258	Spastic paraplegia	823	CAPN1	OMIM:616907
HP:0001258	Spastic paraplegia	1130	LYST	ORPHA:167
HP:0001258	Spastic paraplegia	26154	ABCA12	OMIM:601277
HP:0001258	Spastic paraplegia	2632	GBE1	OMIM:263570
HP:0001258	Spastic paraplegia	6687	SPG7	OMIM:607259
HP:0001258	Spastic paraplegia	57599	WDR48	ORPHA:401800
HP:0001258	Spastic paraplegia	215	ABCD1	OMIM:300100
HP:0001258	Spastic paraplegia	5297	PI4KA	OMIM:619621
HP:0001258	Spastic paraplegia	776	CACNA1D	ORPHA:369929
HP:0001258	Spastic paraplegia	10667	FARS2	OMIM:617046
HP:0001258	Spastic paraplegia	65055	REEP1	OMIM:610250
HP:0001258	Spastic paraplegia	51271	UBAP1	OMIM:618418
HP:0001258	Spastic paraplegia	11160	ERLIN2	OMIM:611225
HP:0001258	Spastic paraplegia	9907	AP5Z1	OMIM:613647
HP:0001258	Spastic paraplegia	79152	FA2H	OMIM:612319
HP:0001258	Spastic paraplegia	79152	FA2H	ORPHA:171629
HP:0001258	Spastic paraplegia	9897	WASHC5	OMIM:603563
HP:0001258	Spastic paraplegia	113612	CYP2U1	OMIM:615030
HP:0001258	Spastic paraplegia	113612	CYP2U1	ORPHA:320411
HP:0001258	Spastic paraplegia	9895	TECPR2	OMIM:615031
HP:0001258	Spastic paraplegia	57498	KIDINS220	OMIM:617296
HP:0001258	Spastic paraplegia	10717	AP4B1	OMIM:614066
HP:0001258	Spastic paraplegia	91574	MTRFR	OMIM:615035
HP:0001258	Spastic paraplegia	11154	AP4S1	OMIM:614067
HP:0001258	Spastic paraplegia	6812	STXBP1	OMIM:612164
HP:0001258	Spastic paraplegia	23259	DDHD2	OMIM:615033
HP:0001258	Spastic paraplegia	23259	DDHD2	ORPHA:320380
HP:0001258	Spastic paraplegia	22948	CCT5	ORPHA:139578
HP:0001258	Spastic paraplegia	22948	CCT5	OMIM:256840
HP:0001258	Spastic paraplegia	56270	WDR45B	OMIM:617977
HP:0001258	Spastic paraplegia	64837	KLC2	OMIM:609541
HP:0001258	Spastic paraplegia	23503	ZFYVE26	OMIM:270700
HP:0001258	Spastic paraplegia	23503	ZFYVE26	ORPHA:100996
HP:0001258	Spastic paraplegia	8050	PDHX	OMIM:245349
HP:0001258	Spastic paraplegia	22978	NT5C2	ORPHA:320396
HP:0001258	Spastic paraplegia	22978	NT5C2	OMIM:613162
HP:0001258	Spastic paraplegia	23064	SETX	ORPHA:357043
HP:0001258	Spastic paraplegia	953	ENTPD1	OMIM:615683
HP:0001258	Spastic paraplegia	83636	C19orf12	OMIM:615043
HP:0001258	Spastic paraplegia	6253	RTN2	OMIM:604805
HP:0001258	Spastic paraplegia	23204	ARL6IP1	OMIM:615685
HP:0001258	Spastic paraplegia	271	AMPD2	OMIM:615686
HP:0001258	Spastic paraplegia	80208	SPG11	OMIM:604360
HP:0001258	Spastic paraplegia	9101	USP8	ORPHA:401795
HP:0001258	Spastic paraplegia	5354	PLP1	OMIM:312080
HP:0001258	Spastic paraplegia	5354	PLP1	OMIM:312920
HP:0001258	Spastic paraplegia	2629	GBA1	ORPHA:2072
HP:0001258	Spastic paraplegia	4099	MAG	ORPHA:459056
HP:0001258	Spastic paraplegia	3329	HSPD1	OMIM:605280
HP:0001258	Spastic paraplegia	3329	HSPD1	ORPHA:100994
HP:0001258	Spastic paraplegia	3329	HSPD1	OMIM:612233
HP:0001258	Spastic paraplegia	57679	ALS2	ORPHA:293168
HP:0001258	Spastic paraplegia	57679	ALS2	OMIM:607225
HP:0001258	Spastic paraplegia	7415	VCP	ORPHA:329475
HP:0001258	Spastic paraplegia	6683	SPAST	OMIM:182601
HP:0001258	Spastic paraplegia	51062	ATL1	OMIM:182600
HP:0001258	Spastic paraplegia	57704	GBA2	OMIM:614409
HP:0001258	Spastic paraplegia	26580	BSCL2	OMIM:270685
HP:0001258	Spastic paraplegia	8139	GAN	OMIM:256850
HP:0001258	Spastic paraplegia	84842	HPDL	OMIM:619026
HP:0001258	Spastic paraplegia	84842	HPDL	OMIM:619027
HP:0001258	Spastic paraplegia	84706	GPT2	ORPHA:477673
HP:0001258	Spastic paraplegia	55656	INTS8	OMIM:618572
HP:0001258	Spastic paraplegia	2583	B4GALNT1	OMIM:609195
HP:0001258	Spastic paraplegia	6709	SPTAN1	OMIM:620538
HP:0001258	Spastic paraplegia	51308	REEP2	OMIM:615625
HP:0001258	Spastic paraplegia	57165	GJC2	OMIM:613206
HP:0001258	Spastic paraplegia	267	AMFR	OMIM:620379
HP:0001258	Spastic paraplegia	137492	VPS37A	OMIM:614898
HP:0001258	Spastic paraplegia	5910	RAP1GDS1	OMIM:620655
HP:0001258	Spastic paraplegia	3798	KIF5A	OMIM:604187
HP:0001258	Spastic paraplegia	25782	RAB3GAP2	ORPHA:401830
HP:0001258	Spastic paraplegia	85465	SELENOI	ORPHA:506353
HP:0001258	Spastic paraplegia	9179	AP4M1	ORPHA:280763
HP:0001258	Spastic paraplegia	23769	FLRT1	ORPHA:320406
HP:0001258	Spastic paraplegia	8242	KDM5C	OMIM:300534
HP:0001258	Spastic paraplegia	340075	ARSI	ORPHA:401815
HP:0001258	Spastic paraplegia	4141	MARS1	ORPHA:401835
HP:0001258	Spastic paraplegia	339855	KY	ORPHA:496689
HP:0001258	Spastic paraplegia	51663	ZFR	ORPHA:401840
HP:0001258	Spastic paraplegia	57531	HACE1	ORPHA:464282
HP:0001258	Spastic paraplegia	80055	PGAP1	ORPHA:401820
HP:0001258	Spastic paraplegia	3839	KPNA3	ORPHA:171612
HP:0007063	Aplasia of the inferior half of the cerebellar vermis	124997	WDR81	OMIM:610185
HP:0007063	Aplasia of the inferior half of the cerebellar vermis	9215	LARGE1	OMIM:613154
HP:0007064	Progressive language deterioration	26047	CNTNAP2	OMIM:610042
HP:0007064	Progressive language deterioration	26047	CNTNAP2	ORPHA:163681
HP:0007064	Progressive language deterioration	4204	MECP2	ORPHA:778
HP:0007064	Progressive language deterioration	2896	GRN	OMIM:607485
HP:0007065	Disorganization of the anterior cerebellar vermis	4983	OPHN1	OMIM:300486
HP:0007067	Distal peripheral sensory neuropathy	22943	DKK1	ORPHA:268882
HP:0007067	Distal peripheral sensory neuropathy	200205	IBA57	ORPHA:468661
HP:0007067	Distal peripheral sensory neuropathy	4558	MT-TF	ORPHA:550
HP:0007067	Distal peripheral sensory neuropathy	4572	MT-TQ	ORPHA:550
HP:0007067	Distal peripheral sensory neuropathy	4512	MT-CO1	ORPHA:550
HP:0007067	Distal peripheral sensory neuropathy	4513	MT-CO2	ORPHA:550
HP:0007067	Distal peripheral sensory neuropathy	4514	MT-CO3	ORPHA:550
HP:0007067	Distal peripheral sensory neuropathy	4578	MT-TW	ORPHA:550
HP:0007067	Distal peripheral sensory neuropathy	4540	MT-ND5	ORPHA:550
HP:0007067	Distal peripheral sensory neuropathy	4541	MT-ND6	ORPHA:550
HP:0007067	Distal peripheral sensory neuropathy	4535	MT-ND1	ORPHA:550
HP:0007067	Distal peripheral sensory neuropathy	4538	MT-ND4	ORPHA:550
HP:0007067	Distal peripheral sensory neuropathy	4567	MT-TL1	ORPHA:550
HP:0007067	Distal peripheral sensory neuropathy	4574	MT-TS1	ORPHA:550
HP:0007067	Distal peripheral sensory neuropathy	4575	MT-TS2	ORPHA:550
HP:0007067	Distal peripheral sensory neuropathy	4564	MT-TH	ORPHA:550
HP:0007067	Distal peripheral sensory neuropathy	3032	HADHB	ORPHA:746
HP:0007067	Distal peripheral sensory neuropathy	3030	HADHA	ORPHA:746
HP:0007067	Distal peripheral sensory neuropathy	2934	GSN	ORPHA:85448
HP:0007067	Distal peripheral sensory neuropathy	80208	SPG11	OMIM:604360
HP:0007069	Profound static encephalopathy	87178	PNPT1	ORPHA:319514
HP:0007069	Profound static encephalopathy	285175	UNC80	OMIM:616801
HP:0002185	Neurofibrillary tangles	5664	PSEN2	OMIM:606889
HP:0002185	Neurofibrillary tangles	5664	PSEN2	ORPHA:1020
HP:0002185	Neurofibrillary tangles	348	APOE	OMIM:606889
HP:0002185	Neurofibrillary tangles	348	APOE	OMIM:607822
HP:0002185	Neurofibrillary tangles	348	APOE	OMIM:104310
HP:0002185	Neurofibrillary tangles	5621	PRNP	OMIM:606688
HP:0002185	Neurofibrillary tangles	5621	PRNP	OMIM:137440
HP:0002185	Neurofibrillary tangles	8398	PLA2G6	ORPHA:199351
HP:0002185	Neurofibrillary tangles	8398	PLA2G6	OMIM:610217
HP:0002185	Neurofibrillary tangles	10577	NPC2	OMIM:607625
HP:0002185	Neurofibrillary tangles	4137	MAPT	OMIM:601104
HP:0002185	Neurofibrillary tangles	4137	MAPT	ORPHA:100070
HP:0002185	Neurofibrillary tangles	5663	PSEN1	OMIM:607822
HP:0002185	Neurofibrillary tangles	5663	PSEN1	ORPHA:1020
HP:0002185	Neurofibrillary tangles	5663	PSEN1	ORPHA:100070
HP:0002185	Neurofibrillary tangles	9445	ITM2B	OMIM:117300
HP:0002185	Neurofibrillary tangles	1540	CYLD	OMIM:619132
HP:0002185	Neurofibrillary tangles	10347	ABCA7	OMIM:608907
HP:0002185	Neurofibrillary tangles	10347	ABCA7	ORPHA:1020
HP:0002185	Neurofibrillary tangles	54832	VPS13C	OMIM:616840
HP:0002185	Neurofibrillary tangles	10452	TOMM40	ORPHA:1020
HP:0002185	Neurofibrillary tangles	351	APP	ORPHA:1020
HP:0002185	Neurofibrillary tangles	351	APP	OMIM:104300
HP:0002185	Neurofibrillary tangles	54209	TREM2	ORPHA:1020
HP:0002185	Neurofibrillary tangles	54209	TREM2	ORPHA:100070
HP:0002185	Neurofibrillary tangles	6653	SORL1	ORPHA:1020
HP:0002185	Neurofibrillary tangles	4353	MPO	OMIM:104300
HP:0002185	Neurofibrillary tangles	4846	NOS3	OMIM:104300
HP:0002185	Neurofibrillary tangles	5328	PLAU	OMIM:104300
HP:0002185	Neurofibrillary tangles	4864	NPC1	OMIM:257220
HP:0002185	Neurofibrillary tangles	2896	GRN	OMIM:607485
HP:0002185	Neurofibrillary tangles	2896	GRN	ORPHA:100070
HP:0002185	Neurofibrillary tangles	25978	CHMP2B	ORPHA:100070
HP:0002185	Neurofibrillary tangles	54664	TMEM106B	ORPHA:100070
HP:0002185	Neurofibrillary tangles	7415	VCP	ORPHA:100070
HP:0001272	Cerebellar atrophy	10749	KIF1C	ORPHA:397946
HP:0001272	Cerebellar atrophy	10749	KIF1C	OMIM:611302
HP:0001272	Cerebellar atrophy	4287	ATXN3	OMIM:109150
HP:0001272	Cerebellar atrophy	4287	ATXN3	ORPHA:276238
HP:0001272	Cerebellar atrophy	4287	ATXN3	ORPHA:276244
HP:0001272	Cerebellar atrophy	4287	ATXN3	ORPHA:276241
HP:0001272	Cerebellar atrophy	23646	PLD3	OMIM:617770
HP:0001272	Cerebellar atrophy	55703	POLR3B	OMIM:614381
HP:0001272	Cerebellar atrophy	55703	POLR3B	OMIM:619742
HP:0001272	Cerebellar atrophy	55703	POLR3B	OMIM:607694
HP:0001272	Cerebellar atrophy	26235	FBXL4	OMIM:615471
HP:0001272	Cerebellar atrophy	4099	MAG	OMIM:616680
HP:0001272	Cerebellar atrophy	51399	TRAPPC4	OMIM:618741
HP:0001272	Cerebellar atrophy	3703	STT3A	OMIM:615596
HP:0001272	Cerebellar atrophy	3703	STT3A	ORPHA:370921
HP:0001272	Cerebellar atrophy	55823	VPS11	OMIM:616683
HP:0001272	Cerebellar atrophy	55823	VPS11	ORPHA:466934
HP:0001272	Cerebellar atrophy	51569	UFM1	OMIM:617899
HP:0001272	Cerebellar atrophy	23446	SLC44A1	OMIM:618868
HP:0001272	Cerebellar atrophy	2895	GRID2	OMIM:616204
HP:0001272	Cerebellar atrophy	6659	SOX4	OMIM:618506
HP:0001272	Cerebellar atrophy	201595	STT3B	OMIM:615597
HP:0001272	Cerebellar atrophy	201595	STT3B	ORPHA:370924
HP:0001272	Cerebellar atrophy	60684	TRAPPC11	OMIM:615356
HP:0001272	Cerebellar atrophy	100996717	NOTCH2NLC	OMIM:618866
HP:0001272	Cerebellar atrophy	81570	CLPB	OMIM:619835
HP:0001272	Cerebellar atrophy	81570	CLPB	OMIM:616271
HP:0001272	Cerebellar atrophy	81570	CLPB	ORPHA:445038
HP:0001272	Cerebellar atrophy	1786	DNMT1	ORPHA:314404
HP:0001272	Cerebellar atrophy	1786	DNMT1	OMIM:604121
HP:0001272	Cerebellar atrophy	84942	WDR73	OMIM:251300
HP:0001272	Cerebellar atrophy	10159	ATP6AP2	ORPHA:93952
HP:0001272	Cerebellar atrophy	10159	ATP6AP2	OMIM:300423
HP:0001272	Cerebellar atrophy	5521	PPP2R2B	OMIM:604326
HP:0001272	Cerebellar atrophy	5521	PPP2R2B	ORPHA:98762
HP:0001272	Cerebellar atrophy	6687	SPG7	ORPHA:99013
HP:0001272	Cerebellar atrophy	6687	SPG7	OMIM:607259
HP:0001272	Cerebellar atrophy	4125	MAN2B1	ORPHA:309282
HP:0001272	Cerebellar atrophy	4125	MAN2B1	ORPHA:309288
HP:0001272	Cerebellar atrophy	4125	MAN2B1	OMIM:248500
HP:0001272	Cerebellar atrophy	3074	HEXB	ORPHA:309162
HP:0001272	Cerebellar atrophy	10908	PNPLA6	ORPHA:139480
HP:0001272	Cerebellar atrophy	10908	PNPLA6	OMIM:215470
HP:0001272	Cerebellar atrophy	10908	PNPLA6	OMIM:612020
HP:0001272	Cerebellar atrophy	65993	MRPS34	OMIM:617664
HP:0001272	Cerebellar atrophy	10300	KATNB1	OMIM:616212
HP:0001272	Cerebellar atrophy	10300	KATNB1	ORPHA:89844
HP:0001272	Cerebellar atrophy	8722	CTSF	OMIM:615362
HP:0001272	Cerebellar atrophy	10528	NOP56	OMIM:614153
HP:0001272	Cerebellar atrophy	56997	COQ8A	ORPHA:139485
HP:0001272	Cerebellar atrophy	56997	COQ8A	OMIM:612016
HP:0001272	Cerebellar atrophy	10026	PIGK	OMIM:618879
HP:0001272	Cerebellar atrophy	477	ATP1A2	OMIM:619605
HP:0001272	Cerebellar atrophy	477	ATP1A2	OMIM:602481
HP:0001272	Cerebellar atrophy	477	ATP1A2	ORPHA:569
HP:0001272	Cerebellar atrophy	478	ATP1A3	OMIM:619606
HP:0001272	Cerebellar atrophy	478	ATP1A3	ORPHA:71517
HP:0001272	Cerebellar atrophy	3145	HMBS	OMIM:620711
HP:0001272	Cerebellar atrophy	10501	SEMA6B	OMIM:618876
HP:0001272	Cerebellar atrophy	84520	GON7	OMIM:619603
HP:0001272	Cerebellar atrophy	55768	NGLY1	ORPHA:404454
HP:0001272	Cerebellar atrophy	1161	ERCC8	OMIM:216400
HP:0001272	Cerebellar atrophy	79693	YRDC	OMIM:619609
HP:0001272	Cerebellar atrophy	146057	TTBK2	OMIM:604432
HP:0001272	Cerebellar atrophy	219285	SAMD9L	OMIM:159550
HP:0001272	Cerebellar atrophy	219285	SAMD9L	ORPHA:2585
HP:0001272	Cerebellar atrophy	219285	SAMD9L	OMIM:619806
HP:0001272	Cerebellar atrophy	79147	FKRP	OMIM:606612
HP:0001272	Cerebellar atrophy	79147	FKRP	ORPHA:370980
HP:0001272	Cerebellar atrophy	535	ATP6V0A1	OMIM:619971
HP:0001272	Cerebellar atrophy	7345	UCHL1	OMIM:615491
HP:0001272	Cerebellar atrophy	347733	TUBB2B	ORPHA:300573
HP:0001272	Cerebellar atrophy	7343	UBTF	OMIM:617672
HP:0001272	Cerebellar atrophy	816	CAMK2B	OMIM:617799
HP:0001272	Cerebellar atrophy	10352	WARS2	OMIM:619738
HP:0001272	Cerebellar atrophy	10352	WARS2	ORPHA:572798
HP:0001272	Cerebellar atrophy	10352	WARS2	OMIM:617710
HP:0001272	Cerebellar atrophy	6573	SLC19A1	OMIM:620603
HP:0001272	Cerebellar atrophy	3064	HTT	OMIM:617435
HP:0001272	Cerebellar atrophy	3064	HTT	OMIM:143100
HP:0001272	Cerebellar atrophy	3064	HTT	ORPHA:248111
HP:0001272	Cerebellar atrophy	7436	VLDLR	OMIM:224050
HP:0001272	Cerebellar atrophy	9326	ZNHIT3	ORPHA:2836
HP:0001272	Cerebellar atrophy	9326	ZNHIT3	OMIM:260565
HP:0001272	Cerebellar atrophy	8560	DEGS1	OMIM:618404
HP:0001272	Cerebellar atrophy	10939	AFG3L2	ORPHA:313772
HP:0001272	Cerebellar atrophy	10939	AFG3L2	OMIM:610246
HP:0001272	Cerebellar atrophy	10939	AFG3L2	OMIM:614487
HP:0001272	Cerebellar atrophy	1130	LYST	ORPHA:167
HP:0001272	Cerebellar atrophy	343641	TGM6	ORPHA:276193
HP:0001272	Cerebellar atrophy	343641	TGM6	OMIM:613908
HP:0001272	Cerebellar atrophy	10715	CERS1	OMIM:616230
HP:0001272	Cerebellar atrophy	84504	NKX6-2	OMIM:617560
HP:0001272	Cerebellar atrophy	84504	NKX6-2	ORPHA:527497
HP:0001272	Cerebellar atrophy	10935	PRDX3	OMIM:619862
HP:0001272	Cerebellar atrophy	2744	GLS	OMIM:618412
HP:0001272	Cerebellar atrophy	6712	SPTBN2	OMIM:615386
HP:0001272	Cerebellar atrophy	6712	SPTBN2	OMIM:600224
HP:0001272	Cerebellar atrophy	6712	SPTBN2	ORPHA:98766
HP:0001272	Cerebellar atrophy	6712	SPTBN2	ORPHA:352403
HP:0001272	Cerebellar atrophy	57231	SNX14	OMIM:616354
HP:0001272	Cerebellar atrophy	83636	C19orf12	OMIM:614298
HP:0001272	Cerebellar atrophy	833	CARS1	OMIM:618891
HP:0001272	Cerebellar atrophy	54872	PIGG	ORPHA:488635
HP:0001272	Cerebellar atrophy	57178	ZMIZ1	OMIM:618659
HP:0001272	Cerebellar atrophy	246243	RNASEH1	OMIM:616479
HP:0001272	Cerebellar atrophy	51761	ATP8A2	OMIM:615268
HP:0001272	Cerebellar atrophy	54840	APTX	OMIM:208920
HP:0001272	Cerebellar atrophy	79731	NARS2	OMIM:616239
HP:0001272	Cerebellar atrophy	6905	TBCE	OMIM:617207
HP:0001272	Cerebellar atrophy	6905	TBCE	ORPHA:496756
HP:0001272	Cerebellar atrophy	950	SCARB2	OMIM:254900
HP:0001272	Cerebellar atrophy	5373	PMM2	OMIM:212065
HP:0001272	Cerebellar atrophy	2074	ERCC6	OMIM:214150
HP:0001272	Cerebellar atrophy	253738	EBF3	OMIM:617330
HP:0001272	Cerebellar atrophy	1186	CLCN7	OMIM:618541
HP:0001272	Cerebellar atrophy	2911	GRM1	OMIM:617691
HP:0001272	Cerebellar atrophy	2911	GRM1	OMIM:614831
HP:0001272	Cerebellar atrophy	55621	TRMT1	OMIM:618302
HP:0001272	Cerebellar atrophy	51604	PIGT	OMIM:615398
HP:0001272	Cerebellar atrophy	51604	PIGT	ORPHA:369837
HP:0001272	Cerebellar atrophy	55280	CWF19L1	OMIM:616127
HP:0001272	Cerebellar atrophy	54902	TTC19	OMIM:615157
HP:0001272	Cerebellar atrophy	1660	DHX9	OMIM:620988
HP:0001272	Cerebellar atrophy	3098	HK1	OMIM:618547
HP:0001272	Cerebellar atrophy	8021	NUP214	OMIM:618426
HP:0001272	Cerebellar atrophy	4191	MDH2	OMIM:617339
HP:0001272	Cerebellar atrophy	150468	CKAP2L	OMIM:272440
HP:0001272	Cerebellar atrophy	285362	SUMF1	OMIM:272200
HP:0001272	Cerebellar atrophy	56052	ALG1	ORPHA:79327
HP:0001272	Cerebellar atrophy	79796	ALG9	ORPHA:79328
HP:0001272	Cerebellar atrophy	79796	ALG9	OMIM:608776
HP:0001272	Cerebellar atrophy	3766	KCNJ10	ORPHA:199343
HP:0001272	Cerebellar atrophy	3766	KCNJ10	OMIM:612780
HP:0001272	Cerebellar atrophy	55210	ATAD3A	ORPHA:496790
HP:0001272	Cerebellar atrophy	55210	ATAD3A	OMIM:617183
HP:0001272	Cerebellar atrophy	9533	POLR1C	OMIM:616494
HP:0001272	Cerebellar atrophy	54828	BCAS3	OMIM:619641
HP:0001272	Cerebellar atrophy	8733	GPAA1	ORPHA:529665
HP:0001272	Cerebellar atrophy	8733	GPAA1	OMIM:617810
HP:0001272	Cerebellar atrophy	5621	PRNP	ORPHA:157941
HP:0001272	Cerebellar atrophy	5621	PRNP	OMIM:137440
HP:0001272	Cerebellar atrophy	2232	FDXR	ORPHA:543470
HP:0001272	Cerebellar atrophy	56947	MFF	ORPHA:485421
HP:0001272	Cerebellar atrophy	56947	MFF	OMIM:617086
HP:0001272	Cerebellar atrophy	4076	CAPRIN1	OMIM:620636
HP:0001272	Cerebellar atrophy	6621	SNAPC4	OMIM:620515
HP:0001272	Cerebellar atrophy	22	ABCB7	ORPHA:2802
HP:0001272	Cerebellar atrophy	22	ABCB7	OMIM:301310
HP:0001272	Cerebellar atrophy	23400	ATP13A2	OMIM:617225
HP:0001272	Cerebellar atrophy	23400	ATP13A2	ORPHA:513436
HP:0001272	Cerebellar atrophy	57466	SCAF4	OMIM:620511
HP:0001272	Cerebellar atrophy	10531	PITRM1	OMIM:619405
HP:0001272	Cerebellar atrophy	146227	BEAN1	ORPHA:217012
HP:0001272	Cerebellar atrophy	146227	BEAN1	OMIM:117210
HP:0001272	Cerebellar atrophy	256471	MFSD8	OMIM:610951
HP:0001272	Cerebellar atrophy	91949	COG7	ORPHA:79333
HP:0001272	Cerebellar atrophy	91949	COG7	OMIM:608779
HP:0001272	Cerebellar atrophy	56652	TWNK	OMIM:271245
HP:0001272	Cerebellar atrophy	56652	TWNK	ORPHA:254892
HP:0001272	Cerebellar atrophy	23556	PIGN	OMIM:614080
HP:0001272	Cerebellar atrophy	23556	PIGN	ORPHA:280633
HP:0001272	Cerebellar atrophy	51651	PTRH2	OMIM:616263
HP:0001272	Cerebellar atrophy	23007	PLCH1	OMIM:619895
HP:0001272	Cerebellar atrophy	23162	MAPK8IP3	OMIM:618443
HP:0001272	Cerebellar atrophy	197258	FCSK	OMIM:618324
HP:0001272	Cerebellar atrophy	11284	PNKP	OMIM:616267
HP:0001272	Cerebellar atrophy	11284	PNKP	ORPHA:1934
HP:0001272	Cerebellar atrophy	11284	PNKP	OMIM:613402
HP:0001272	Cerebellar atrophy	259232	NALCN	OMIM:616266
HP:0001272	Cerebellar atrophy	339855	KY	ORPHA:496689
HP:0001272	Cerebellar atrophy	125988	MICOS13	OMIM:618329
HP:0001272	Cerebellar atrophy	29960	MRM2	OMIM:618567
HP:0001272	Cerebellar atrophy	2055	CLN8	ORPHA:1947
HP:0001272	Cerebellar atrophy	2055	CLN8	OMIM:600143
HP:0001272	Cerebellar atrophy	2055	CLN8	OMIM:610003
HP:0001272	Cerebellar atrophy	8813	DPM1	ORPHA:79322
HP:0001272	Cerebellar atrophy	57192	MCOLN1	OMIM:252650
HP:0001272	Cerebellar atrophy	10195	ALG3	OMIM:601110
HP:0001272	Cerebellar atrophy	85300	ATCAY	OMIM:601238
HP:0001272	Cerebellar atrophy	91137	SLC25A46	OMIM:619303
HP:0001272	Cerebellar atrophy	91137	SLC25A46	OMIM:616505
HP:0001272	Cerebellar atrophy	58497	PRUNE1	OMIM:617481
HP:0001272	Cerebellar atrophy	58497	PRUNE1	ORPHA:544469
HP:0001272	Cerebellar atrophy	5111	PCNA	ORPHA:438134
HP:0001272	Cerebellar atrophy	5111	PCNA	OMIM:615919
HP:0001272	Cerebellar atrophy	3980	LIG3	OMIM:619780
HP:0001272	Cerebellar atrophy	51117	COQ4	OMIM:616276
HP:0001272	Cerebellar atrophy	51117	COQ4	OMIM:620666
HP:0001272	Cerebellar atrophy	133686	NADK2	OMIM:616034
HP:0001272	Cerebellar atrophy	133686	NADK2	ORPHA:431361
HP:0001272	Cerebellar atrophy	6709	SPTAN1	OMIM:620538
HP:0001272	Cerebellar atrophy	6709	SPTAN1	OMIM:620540
HP:0001272	Cerebellar atrophy	6709	SPTAN1	OMIM:613477
HP:0001272	Cerebellar atrophy	11232	POLG2	OMIM:619425
HP:0001272	Cerebellar atrophy	11232	POLG2	ORPHA:254892
HP:0001272	Cerebellar atrophy	11232	POLG2	OMIM:610131
HP:0001272	Cerebellar atrophy	5277	PIGA	OMIM:301072
HP:0001272	Cerebellar atrophy	5277	PIGA	OMIM:300868
HP:0001272	Cerebellar atrophy	6792	CDKL5	ORPHA:1934
HP:0001272	Cerebellar atrophy	3736	KCNA1	ORPHA:1934
HP:0001272	Cerebellar atrophy	3736	KCNA1	ORPHA:37612
HP:0001272	Cerebellar atrophy	9091	PIGQ	ORPHA:1934
HP:0001272	Cerebellar atrophy	140679	SLC32A1	ORPHA:1934
HP:0001272	Cerebellar atrophy	2775	GNAO1	ORPHA:1934
HP:0001272	Cerebellar atrophy	2775	GNAO1	OMIM:617493
HP:0001272	Cerebellar atrophy	81603	TRIM8	ORPHA:1934
HP:0001272	Cerebellar atrophy	2902	GRIN1	ORPHA:1934
HP:0001272	Cerebellar atrophy	2902	GRIN1	OMIM:614254
HP:0001272	Cerebellar atrophy	79751	SLC25A22	ORPHA:1934
HP:0001272	Cerebellar atrophy	150094	SIK1	ORPHA:1934
HP:0001272	Cerebellar atrophy	8573	CASK	ORPHA:1934
HP:0001272	Cerebellar atrophy	23312	DMXL2	ORPHA:1934
HP:0001272	Cerebellar atrophy	2917	GRM7	ORPHA:1934
HP:0001272	Cerebellar atrophy	2917	GRM7	OMIM:618922
HP:0001272	Cerebellar atrophy	170302	ARX	ORPHA:1934
HP:0001272	Cerebellar atrophy	6326	SCN2A	ORPHA:1934
HP:0001272	Cerebellar atrophy	51227	PIGP	ORPHA:1934
HP:0001272	Cerebellar atrophy	6324	SCN1B	ORPHA:1934
HP:0001272	Cerebellar atrophy	4761	NEUROD2	ORPHA:1934
HP:0001272	Cerebellar atrophy	291	SLC25A4	ORPHA:254892
HP:0001272	Cerebellar atrophy	5428	POLG	ORPHA:254892
HP:0001272	Cerebellar atrophy	5428	POLG	OMIM:258450
HP:0001272	Cerebellar atrophy	5428	POLG	ORPHA:254886
HP:0001272	Cerebellar atrophy	5428	POLG	OMIM:203700
HP:0001272	Cerebellar atrophy	50484	RRM2B	ORPHA:254892
HP:0001272	Cerebellar atrophy	23111	SPART	OMIM:275900
HP:0001272	Cerebellar atrophy	10059	DNM1L	ORPHA:330050
HP:0001272	Cerebellar atrophy	10059	DNM1L	ORPHA:98673
HP:0001272	Cerebellar atrophy	8925	HERC1	OMIM:617011
HP:0001272	Cerebellar atrophy	79876	UBA5	OMIM:617132
HP:0001272	Cerebellar atrophy	79876	UBA5	OMIM:617133
HP:0001272	Cerebellar atrophy	10466	COG5	ORPHA:263487
HP:0001272	Cerebellar atrophy	10466	COG5	OMIM:613612
HP:0001272	Cerebellar atrophy	9759	HDAC4	OMIM:619797
HP:0001272	Cerebellar atrophy	23516	SLC39A14	OMIM:617013
HP:0001272	Cerebellar atrophy	23516	SLC39A14	ORPHA:521406
HP:0001272	Cerebellar atrophy	8506	CNTNAP1	OMIM:616286
HP:0001272	Cerebellar atrophy	8506	CNTNAP1	OMIM:618186
HP:0001272	Cerebellar atrophy	23345	SYNE1	ORPHA:88644
HP:0001272	Cerebellar atrophy	23345	SYNE1	OMIM:610743
HP:0001272	Cerebellar atrophy	51728	POLR3K	OMIM:619310
HP:0001272	Cerebellar atrophy	2495	FTH1	OMIM:620669
HP:0001272	Cerebellar atrophy	1317	SLC31A1	OMIM:620306
HP:0001272	Cerebellar atrophy	54973	INTS11	OMIM:620428
HP:0001272	Cerebellar atrophy	10785	WDR4	OMIM:618347
HP:0001272	Cerebellar atrophy	4719	NDUFS1	OMIM:618226
HP:0001272	Cerebellar atrophy	51412	ACTL6B	OMIM:618468
HP:0001272	Cerebellar atrophy	11267	SNF8	OMIM:620784
HP:0001272	Cerebellar atrophy	11267	SNF8	OMIM:620783
HP:0001272	Cerebellar atrophy	84320	ACBD6	OMIM:620785
HP:0001272	Cerebellar atrophy	3708	ITPR1	ORPHA:208513
HP:0001272	Cerebellar atrophy	3708	ITPR1	OMIM:206700
HP:0001272	Cerebellar atrophy	3708	ITPR1	ORPHA:98769
HP:0001272	Cerebellar atrophy	3708	ITPR1	OMIM:117360
HP:0001272	Cerebellar atrophy	3708	ITPR1	OMIM:606658
HP:0001272	Cerebellar atrophy	4838	NODAL	OMIM:270100
HP:0001272	Cerebellar atrophy	6507	SLC1A3	ORPHA:209967
HP:0001272	Cerebellar atrophy	6507	SLC1A3	OMIM:612656
HP:0001272	Cerebellar atrophy	128869	PIGU	OMIM:618590
HP:0001272	Cerebellar atrophy	10733	PLK4	OMIM:616171
HP:0001272	Cerebellar atrophy	6548	SLC9A1	OMIM:616291
HP:0001272	Cerebellar atrophy	55610	VPS50	OMIM:619685
HP:0001272	Cerebellar atrophy	7084	TK2	ORPHA:254886
HP:0001272	Cerebellar atrophy	81790	RNF170	OMIM:619686
HP:0001272	Cerebellar atrophy	23102	TBC1D2B	OMIM:619323
HP:0001272	Cerebellar atrophy	23114	NFASC	OMIM:618356
HP:0001272	Cerebellar atrophy	6647	SOD1	OMIM:618598
HP:0001272	Cerebellar atrophy	92667	MGME1	OMIM:615084
HP:0001272	Cerebellar atrophy	92667	MGME1	ORPHA:352447
HP:0001272	Cerebellar atrophy	25814	ATXN10	OMIM:603516
HP:0001272	Cerebellar atrophy	25814	ATXN10	ORPHA:98761
HP:0001272	Cerebellar atrophy	5649	RELN	ORPHA:89844
HP:0001272	Cerebellar atrophy	54820	NDE1	ORPHA:89844
HP:0001272	Cerebellar atrophy	51601	LIPT1	OMIM:616299
HP:0001272	Cerebellar atrophy	8878	SQSTM1	OMIM:617145
HP:0001272	Cerebellar atrophy	29078	NDUFAF4	OMIM:618237
HP:0001272	Cerebellar atrophy	11152	WDR45	ORPHA:329284
HP:0001272	Cerebellar atrophy	11152	WDR45	OMIM:300894
HP:0001272	Cerebellar atrophy	25885	POLR1A	OMIM:620675
HP:0001272	Cerebellar atrophy	10073	SNUPN	OMIM:620793
HP:0001272	Cerebellar atrophy	154881	KCTD7	OMIM:611726
HP:0001272	Cerebellar atrophy	154881	KCTD7	ORPHA:263516
HP:0001272	Cerebellar atrophy	9179	AP4M1	OMIM:612936
HP:0001272	Cerebellar atrophy	9179	AP4M1	ORPHA:280763
HP:0001272	Cerebellar atrophy	79944	L2HGDH	OMIM:236792
HP:0001272	Cerebellar atrophy	6904	TBCD	ORPHA:496641
HP:0001272	Cerebellar atrophy	6904	TBCD	OMIM:617193
HP:0001272	Cerebellar atrophy	4976	OPA1	ORPHA:98673
HP:0001272	Cerebellar atrophy	4976	OPA1	OMIM:210000
HP:0001272	Cerebellar atrophy	5934	RBL2	OMIM:619690
HP:0001272	Cerebellar atrophy	25929	GEMIN5	OMIM:619333
HP:0001272	Cerebellar atrophy	4621	MYH3	OMIM:193700
HP:0001272	Cerebellar atrophy	56915	EXOSC5	OMIM:619576
HP:0001272	Cerebellar atrophy	10588	MTHFS	OMIM:618367
HP:0001272	Cerebellar atrophy	63925	ZNF335	OMIM:615095
HP:0001272	Cerebellar atrophy	4704	NDUFA9	OMIM:618247
HP:0001272	Cerebellar atrophy	55572	FOXRED1	OMIM:618241
HP:0001272	Cerebellar atrophy	3746	KCNC1	OMIM:616187
HP:0001272	Cerebellar atrophy	8120	AP3B2	OMIM:617276
HP:0001272	Cerebellar atrophy	54834	GDAP2	OMIM:618369
HP:0001272	Cerebellar atrophy	7965	AIMP2	OMIM:618006
HP:0001272	Cerebellar atrophy	51079	NDUFA13	OMIM:618249
HP:0001272	Cerebellar atrophy	400569	MED11	OMIM:620327
HP:0001272	Cerebellar atrophy	26999	CYFIP2	OMIM:618008
HP:0001272	Cerebellar atrophy	773	CACNA1A	ORPHA:569
HP:0001272	Cerebellar atrophy	773	CACNA1A	OMIM:183086
HP:0001272	Cerebellar atrophy	773	CACNA1A	OMIM:141500
HP:0001272	Cerebellar atrophy	112476	PRRT2	ORPHA:569
HP:0001272	Cerebellar atrophy	6323	SCN1A	ORPHA:569
HP:0001272	Cerebellar atrophy	2898	GRIK2	OMIM:619580
HP:0001272	Cerebellar atrophy	5611	DNAJC3	OMIM:616192
HP:0001272	Cerebellar atrophy	5611	DNAJC3	ORPHA:445062
HP:0001272	Cerebellar atrophy	463	ZFHX3	OMIM:600223
HP:0001272	Cerebellar atrophy	2332	FMR1	OMIM:300623
HP:0001272	Cerebellar atrophy	10524	KAT5	OMIM:619103
HP:0001272	Cerebellar atrophy	372	ARCN1	OMIM:617164
HP:0001272	Cerebellar atrophy	2705	GJB1	OMIM:302800
HP:0001272	Cerebellar atrophy	523	ATP6V1A	OMIM:618012
HP:0001272	Cerebellar atrophy	2257	FGF12	OMIM:617166
HP:0001272	Cerebellar atrophy	2071	ERCC3	OMIM:610651
HP:0001272	Cerebellar atrophy	1200	TPP1	OMIM:609270
HP:0001272	Cerebellar atrophy	1200	TPP1	ORPHA:284324
HP:0001272	Cerebellar atrophy	2218	FKTN	ORPHA:370980
HP:0001272	Cerebellar atrophy	729920	CRPPA	ORPHA:370980
HP:0001272	Cerebellar atrophy	10585	POMT1	ORPHA:370980
HP:0001272	Cerebellar atrophy	220296	HEPACAM	OMIM:613925
HP:0001272	Cerebellar atrophy	9256	TSPOAP1	OMIM:620453
HP:0001272	Cerebellar atrophy	79736	TEFM	OMIM:620451
HP:0001272	Cerebellar atrophy	1938	EEF2	ORPHA:101112
HP:0001272	Cerebellar atrophy	1938	EEF2	OMIM:609306
HP:0001272	Cerebellar atrophy	65260	COA7	OMIM:618387
HP:0001272	Cerebellar atrophy	23316	CUX2	OMIM:618141
HP:0001272	Cerebellar atrophy	64849	SLC13A3	OMIM:618384
HP:0001272	Cerebellar atrophy	94005	PIGS	OMIM:618143
HP:0001272	Cerebellar atrophy	4361	MRE11	ORPHA:251347
HP:0001272	Cerebellar atrophy	4361	MRE11	OMIM:604391
HP:0001272	Cerebellar atrophy	51091	SEPSECS	OMIM:613811
HP:0001272	Cerebellar atrophy	1528	CYB5A	ORPHA:621
HP:0001272	Cerebellar atrophy	1727	CYB5R3	ORPHA:621
HP:0001272	Cerebellar atrophy	215	ABCD1	ORPHA:369942
HP:0001272	Cerebellar atrophy	10134	BCAP31	ORPHA:369942
HP:0001272	Cerebellar atrophy	10134	BCAP31	OMIM:300475
HP:0001272	Cerebellar atrophy	10134	BCAP31	ORPHA:369939
HP:0001272	Cerebellar atrophy	2571	GAD1	OMIM:619124
HP:0001272	Cerebellar atrophy	6872	TAF1	OMIM:300966
HP:0001272	Cerebellar atrophy	90522	YIF1B	OMIM:619125
HP:0001272	Cerebellar atrophy	84340	GFM2	OMIM:618397
HP:0001272	Cerebellar atrophy	23287	AGTPBP1	OMIM:618276
HP:0001272	Cerebellar atrophy	79152	FA2H	ORPHA:171629
HP:0001272	Cerebellar atrophy	79152	FA2H	ORPHA:329308
HP:0001272	Cerebellar atrophy	79152	FA2H	OMIM:612319
HP:0001272	Cerebellar atrophy	57038	RARS2	OMIM:611523
HP:0001272	Cerebellar atrophy	57704	GBA2	ORPHA:320391
HP:0001272	Cerebellar atrophy	57704	GBA2	OMIM:614409
HP:0001272	Cerebellar atrophy	2799	GNS	OMIM:252940
HP:0001272	Cerebellar atrophy	9895	TECPR2	ORPHA:320385
HP:0001272	Cerebellar atrophy	6389	SDHA	OMIM:619259
HP:0001272	Cerebellar atrophy	10479	SLC9A6	ORPHA:85278
HP:0001272	Cerebellar atrophy	10479	SLC9A6	OMIM:300243
HP:0001272	Cerebellar atrophy	10273	STUB1	ORPHA:412057
HP:0001272	Cerebellar atrophy	10273	STUB1	OMIM:618093
HP:0001272	Cerebellar atrophy	10273	STUB1	OMIM:615768
HP:0001272	Cerebellar atrophy	383	ARG1	OMIM:207800
HP:0001272	Cerebellar atrophy	3295	HSD17B4	OMIM:261515
HP:0001272	Cerebellar atrophy	3295	HSD17B4	OMIM:233400
HP:0001272	Cerebellar atrophy	54936	ADPRS	OMIM:618170
HP:0001272	Cerebellar atrophy	64802	NMNAT1	OMIM:619260
HP:0001272	Cerebellar atrophy	79644	SRD5A3	ORPHA:324737
HP:0001272	Cerebellar atrophy	27072	VPS41	OMIM:619389
HP:0001272	Cerebellar atrophy	84274	COQ5	OMIM:619028
HP:0001272	Cerebellar atrophy	221927	BRAT1	OMIM:618056
HP:0001272	Cerebellar atrophy	10535	RNASEH2A	OMIM:610333
HP:0001272	Cerebellar atrophy	11342	RNF13	ORPHA:544503
HP:0001272	Cerebellar atrophy	27445	PCLO	OMIM:608027
HP:0001272	Cerebellar atrophy	8398	PLA2G6	OMIM:610217
HP:0001272	Cerebellar atrophy	8398	PLA2G6	ORPHA:35069
HP:0001272	Cerebellar atrophy	8398	PLA2G6	OMIM:256600
HP:0001272	Cerebellar atrophy	64858	DCLRE1B	OMIM:620133
HP:0001272	Cerebellar atrophy	55129	ANO10	OMIM:613728
HP:0001272	Cerebellar atrophy	55129	ANO10	ORPHA:284289
HP:0001272	Cerebellar atrophy	60481	ELOVL5	ORPHA:423296
HP:0001272	Cerebellar atrophy	25792	CIZ1	ORPHA:420492
HP:0001272	Cerebellar atrophy	64374	SIL1	OMIM:248800
HP:0001272	Cerebellar atrophy	4702	NDUFA8	OMIM:619272
HP:0001272	Cerebellar atrophy	158	ADSL	OMIM:103050
HP:0001272	Cerebellar atrophy	51102	MECR	ORPHA:508093
HP:0001272	Cerebellar atrophy	5393	EXOSC9	OMIM:618065
HP:0001272	Cerebellar atrophy	7355	SLC35A2	ORPHA:356961
HP:0001272	Cerebellar atrophy	1593	CYP27A1	OMIM:213700
HP:0001272	Cerebellar atrophy	1593	CYP27A1	ORPHA:909
HP:0001272	Cerebellar atrophy	347734	SLC35B2	OMIM:620269
HP:0001272	Cerebellar atrophy	2896	GRN	OMIM:614706
HP:0001272	Cerebellar atrophy	10667	FARS2	OMIM:614946
HP:0001272	Cerebellar atrophy	23126	POGZ	ORPHA:468678
HP:0001272	Cerebellar atrophy	200205	IBA57	ORPHA:468661
HP:0001272	Cerebellar atrophy	9442	MED27	OMIM:619286
HP:0001272	Cerebellar atrophy	6311	ATXN2	OMIM:183090
HP:0001272	Cerebellar atrophy	25914	RTTN	OMIM:614833
HP:0001272	Cerebellar atrophy	25914	RTTN	ORPHA:468631
HP:0001272	Cerebellar atrophy	54476	RNF216	OMIM:212840
HP:0001272	Cerebellar atrophy	23431	AP4E1	OMIM:613744
HP:0001272	Cerebellar atrophy	23431	AP4E1	ORPHA:280763
HP:0001272	Cerebellar atrophy	547	KIF1A	OMIM:610357
HP:0001272	Cerebellar atrophy	547	KIF1A	OMIM:614255
HP:0001272	Cerebellar atrophy	4884	NPTX1	OMIM:620158
HP:0001272	Cerebellar atrophy	9382	COG1	OMIM:611209
HP:0001272	Cerebellar atrophy	51324	SPG21	OMIM:248900
HP:0001272	Cerebellar atrophy	4509	MT-ATP8	ORPHA:254913
HP:0001272	Cerebellar atrophy	514	ATP5F1E	ORPHA:254913
HP:0001272	Cerebellar atrophy	513	ATP5F1D	ORPHA:254913
HP:0001272	Cerebellar atrophy	498	ATP5F1A	ORPHA:254913
HP:0001272	Cerebellar atrophy	4508	MT-ATP6	ORPHA:254913
HP:0001272	Cerebellar atrophy	84833	ATP5MK	ORPHA:254913
HP:0001272	Cerebellar atrophy	91647	ATPAF2	ORPHA:254913
HP:0001272	Cerebellar atrophy	64207	IRF2BPL	OMIM:618088
HP:0001272	Cerebellar atrophy	55157	DARS2	ORPHA:137898
HP:0001272	Cerebellar atrophy	5173	PDYN	OMIM:610245
HP:0001272	Cerebellar atrophy	93627	TBCK	OMIM:616900
HP:0001272	Cerebellar atrophy	1509	CTSD	OMIM:610127
HP:0001272	Cerebellar atrophy	823	CAPN1	OMIM:616907
HP:0001272	Cerebellar atrophy	1717	DHCR7	OMIM:270400
HP:0001272	Cerebellar atrophy	7274	TTPA	ORPHA:96
HP:0001272	Cerebellar atrophy	7274	TTPA	OMIM:277460
HP:0001272	Cerebellar atrophy	80856	LNPK	OMIM:618090
HP:0001272	Cerebellar atrophy	26278	SACS	ORPHA:98
HP:0001272	Cerebellar atrophy	1327	COX4I1	OMIM:619060
HP:0001272	Cerebellar atrophy	23203	PMPCA	ORPHA:1170
HP:0001272	Cerebellar atrophy	7156	TOP3A	OMIM:618098
HP:0001272	Cerebellar atrophy	26090	ABHD12	OMIM:612674
HP:0001272	Cerebellar atrophy	55775	TDP1	OMIM:607250
HP:0001272	Cerebellar atrophy	84342	COG8	ORPHA:95428
HP:0001272	Cerebellar atrophy	84342	COG8	OMIM:611182
HP:0001272	Cerebellar atrophy	1600	DAB1	OMIM:615945
HP:0001272	Cerebellar atrophy	4598	MVK	OMIM:610377
HP:0001272	Cerebellar atrophy	10382	TUBB4A	OMIM:612438
HP:0001272	Cerebellar atrophy	84947	SERAC1	OMIM:614739
HP:0001272	Cerebellar atrophy	2395	FXN	ORPHA:95
HP:0001272	Cerebellar atrophy	9711	RUBCN	OMIM:615705
HP:0001272	Cerebellar atrophy	6908	TBP	OMIM:607136
HP:0001272	Cerebellar atrophy	6908	TBP	ORPHA:98759
HP:0001272	Cerebellar atrophy	7915	ALDH5A1	OMIM:271980
HP:0001272	Cerebellar atrophy	2259	FGF14	OMIM:620174
HP:0001272	Cerebellar atrophy	2259	FGF14	ORPHA:98764
HP:0001272	Cerebellar atrophy	2259	FGF14	OMIM:193003
HP:0001272	Cerebellar atrophy	3475	IFRD1	ORPHA:98771
HP:0001272	Cerebellar atrophy	3752	KCND3	ORPHA:98772
HP:0001272	Cerebellar atrophy	3752	KCND3	OMIM:607346
HP:0001272	Cerebellar atrophy	1267	CNP	OMIM:619071
HP:0001272	Cerebellar atrophy	5828	PEX2	OMIM:614866
HP:0001272	Cerebellar atrophy	5828	PEX2	OMIM:614867
HP:0001272	Cerebellar atrophy	90624	LYRM7	OMIM:615838
HP:0001272	Cerebellar atrophy	1282	COL4A1	OMIM:175780
HP:0001272	Cerebellar atrophy	3748	KCNC3	ORPHA:98768
HP:0001272	Cerebellar atrophy	3748	KCNC3	OMIM:605259
HP:0001272	Cerebellar atrophy	83475	DOHH	OMIM:620066
HP:0001272	Cerebellar atrophy	724066	ATXN8	ORPHA:98760
HP:0001272	Cerebellar atrophy	724066	ATXN8	OMIM:608768
HP:0001272	Cerebellar atrophy	6315	ATXN8OS	ORPHA:98760
HP:0001272	Cerebellar atrophy	6315	ATXN8OS	OMIM:608768
HP:0001272	Cerebellar atrophy	492	ATP2B3	OMIM:302500
HP:0001272	Cerebellar atrophy	255928	SYT14	ORPHA:284271
HP:0001272	Cerebellar atrophy	255928	SYT14	OMIM:614229
HP:0001272	Cerebellar atrophy	5192	PEX10	OMIM:614871
HP:0001272	Cerebellar atrophy	9409	PEX16	OMIM:614877
HP:0001272	Cerebellar atrophy	64135	IFIH1	OMIM:615846
HP:0001272	Cerebellar atrophy	25828	TXN2	OMIM:616811
HP:0001272	Cerebellar atrophy	6310	ATXN1	ORPHA:98755
HP:0001272	Cerebellar atrophy	22880	MORC2	OMIM:619090
HP:0001272	Cerebellar atrophy	22880	MORC2	ORPHA:466768
HP:0001272	Cerebellar atrophy	55275	VPS53	OMIM:615851
HP:0001272	Cerebellar atrophy	10815	CPLX1	ORPHA:352582
HP:0001272	Cerebellar atrophy	57465	TBC1D24	ORPHA:352582
HP:0001272	Cerebellar atrophy	1384	CRAT	OMIM:617917
HP:0001272	Cerebellar atrophy	64116	SLC39A8	ORPHA:468699
HP:0001272	Cerebellar atrophy	64116	SLC39A8	OMIM:616721
HP:0001272	Cerebellar atrophy	200403	VWA3B	OMIM:616948
HP:0001272	Cerebellar atrophy	85021	REPS1	OMIM:617916
HP:0001272	Cerebellar atrophy	3954	LETM1	OMIM:620089
HP:0001272	Cerebellar atrophy	1487	CTBP1	OMIM:617915
HP:0001272	Cerebellar atrophy	6314	ATXN7	ORPHA:94147
HP:0001272	Cerebellar atrophy	7546	ZIC2	OMIM:609637
HP:0001272	Cerebellar atrophy	57017	COQ9	OMIM:614654
HP:0001272	Cerebellar atrophy	55690	PACS1	ORPHA:329224
HP:0001272	Cerebellar atrophy	22907	DHX30	OMIM:617804
HP:0001272	Cerebellar atrophy	79628	SH3TC2	ORPHA:99949
HP:0001272	Cerebellar atrophy	7407	VARS1	OMIM:617802
HP:0001272	Cerebellar atrophy	10664	CTCF	OMIM:615502
HP:0001272	Cerebellar atrophy	339453	TMEM240	OMIM:607454
HP:0001272	Cerebellar atrophy	23064	SETX	OMIM:606002
HP:0001272	Cerebellar atrophy	1861	TOR1A	OMIM:128100
HP:0001272	Cerebellar atrophy	11128	POLR3A	OMIM:607694
HP:0001272	Cerebellar atrophy	92935	MARS2	OMIM:611390
HP:0001272	Cerebellar atrophy	92935	MARS2	OMIM:616430
HP:0001272	Cerebellar atrophy	80207	OPA3	ORPHA:67036
HP:0001272	Cerebellar atrophy	124997	WDR81	OMIM:610185
HP:0001272	Cerebellar atrophy	6334	SCN8A	OMIM:614306
HP:0001272	Cerebellar atrophy	7545	ZIC1	OMIM:616602
HP:0001272	Cerebellar atrophy	55187	VPS13D	OMIM:607317
HP:0001272	Cerebellar atrophy	998	CDC42	OMIM:616737
HP:0001272	Cerebellar atrophy	998	CDC42	ORPHA:487796
HP:0001272	Cerebellar atrophy	57505	AARS2	OMIM:615889
HP:0001272	Cerebellar atrophy	50	ACO2	OMIM:614559
HP:0001272	Cerebellar atrophy	51010	EXOSC3	OMIM:614678
HP:0001272	Cerebellar atrophy	2891	GRIA2	OMIM:618917
HP:0001272	Cerebellar atrophy	4694	NDUFA1	OMIM:301020
HP:0001272	Cerebellar atrophy	27235	COQ2	OMIM:607426
HP:0001272	Cerebellar atrophy	23732	FRRS1L	OMIM:616981
HP:0001272	Cerebellar atrophy	63035	BCORL1	OMIM:301029
HP:0001272	Cerebellar atrophy	9512	PMPCB	OMIM:617954
HP:0001272	Cerebellar atrophy	51741	WWOX	OMIM:614322
HP:0001272	Cerebellar atrophy	2058	EPRS1	OMIM:617951
HP:0001272	Cerebellar atrophy	80746	TSEN2	OMIM:612389
HP:0001272	Cerebellar atrophy	5582	PRKCG	OMIM:605361
HP:0001272	Cerebellar atrophy	5422	POLA1	OMIM:301030
HP:0001272	Cerebellar atrophy	84188	FAR1	ORPHA:438178
HP:0001272	Cerebellar atrophy	57511	COG6	OMIM:614576
HP:0001272	Cerebellar atrophy	23065	EMC1	OMIM:616875
HP:0001272	Cerebellar atrophy	128637	TBC1D20	OMIM:615663
HP:0001272	Cerebellar atrophy	5981	RFC1	OMIM:614575
HP:0001272	Cerebellar atrophy	55644	OSGEP	OMIM:617729
HP:0001272	Cerebellar atrophy	9997	SCO2	OMIM:604377
HP:0001272	Cerebellar atrophy	8270	LAGE3	OMIM:301006
HP:0001272	Cerebellar atrophy	80781	COL18A1	OMIM:267750
HP:0001272	Cerebellar atrophy	26576	SRPK3	OMIM:301134
HP:0001272	Cerebellar atrophy	122553	TRAPPC6B	OMIM:617862
HP:0001272	Cerebellar atrophy	7222	TRPC3	OMIM:616410
HP:0001272	Cerebellar atrophy	80210	ARMC9	OMIM:617622
HP:0001272	Cerebellar atrophy	2670	GFAP	ORPHA:363717
HP:0001272	Cerebellar atrophy	55704	CCDC88A	OMIM:617507
HP:0001272	Cerebellar atrophy	55164	SHQ1	OMIM:619922
HP:0001272	Cerebellar atrophy	6785	ELOVL4	OMIM:133190
HP:0001272	Cerebellar atrophy	617	BCS1L	OMIM:124000
HP:0001272	Cerebellar atrophy	10717	AP4B1	ORPHA:280763
HP:0001272	Cerebellar atrophy	11154	AP4S1	ORPHA:280763
HP:0001272	Cerebellar atrophy	95	ACY1	OMIM:609924
HP:0001272	Cerebellar atrophy	1736	DKC1	OMIM:301108
HP:0001272	Cerebellar atrophy	8913	CACNA1G	ORPHA:458803
HP:0001272	Cerebellar atrophy	8913	CACNA1G	OMIM:616795
HP:0001272	Cerebellar atrophy	9197	SLC33A1	OMIM:614482
HP:0001272	Cerebellar atrophy	1203	CLN5	OMIM:256731
HP:0001272	Cerebellar atrophy	4724	NDUFS4	OMIM:252010
HP:0001272	Cerebellar atrophy	7515	XRCC1	OMIM:617633
HP:0001272	Cerebellar atrophy	23533	PIK3R5	OMIM:615217
HP:0001272	Cerebellar atrophy	3778	KCNMA1	OMIM:618729
HP:0001272	Cerebellar atrophy	3778	KCNMA1	OMIM:617643
HP:0001272	Cerebellar atrophy	87178	PNPT1	OMIM:608703
HP:0001272	Cerebellar atrophy	51075	TMX2	OMIM:618730
HP:0001272	Cerebellar atrophy	8884	SLC5A6	OMIM:618973
HP:0001272	Cerebellar atrophy	23404	EXOSC2	OMIM:617763
HP:0001272	Cerebellar atrophy	79587	CARS2	OMIM:616672
HP:0001272	Cerebellar atrophy	2196	FAT2	OMIM:617769
HP:0001272	Cerebellar atrophy	5297	PI4KA	OMIM:619708
HP:0001272	Cerebellar atrophy	267010	RNU12	ORPHA:512260
HP:0001272	Cerebellar atrophy	8450	CUL4B	OMIM:300354
HP:0001272	Cerebellar atrophy	375	ARF1	OMIM:618185
HP:0001272	Cerebellar atrophy	57680	CHD8	OMIM:615032
HP:0001272	Cerebellar atrophy	9698	PUM1	OMIM:617931
HP:0001272	Cerebellar atrophy	4311	MME	OMIM:617018
HP:0001272	Cerebellar atrophy	4311	MME	ORPHA:497764
HP:0001272	Cerebellar atrophy	83548	COG3	OMIM:620546
HP:0001272	Cerebellar atrophy	9254	CACNA2D2	OMIM:618501
HP:0001272	Cerebellar atrophy	26047	CNTNAP2	ORPHA:163681
HP:0001272	Cerebellar atrophy	26047	CNTNAP2	OMIM:610042
HP:0001272	Cerebellar atrophy	203068	TUBB	OMIM:156610
HP:0001272	Cerebellar atrophy	5859	QARS1	OMIM:615760
HP:0001272	Cerebellar atrophy	53335	BCL11A	OMIM:617101
HP:0001272	Cerebellar atrophy	1742	DLG4	OMIM:618793
HP:0001272	Cerebellar atrophy	4010	LMX1B	ORPHA:495818
HP:0001272	Cerebellar atrophy	6812	STXBP1	ORPHA:495818
HP:0001272	Cerebellar atrophy	54676	GTPBP2	OMIM:617988
HP:0001272	Cerebellar atrophy	11261	CHP1	OMIM:618438
HP:0001272	Cerebellar atrophy	5354	PLP1	OMIM:312080
HP:0001272	Cerebellar atrophy	116228	COX20	OMIM:619054
HP:0001272	Cerebellar atrophy	7518	XRCC4	OMIM:616541
HP:0001272	Cerebellar atrophy	57410	SCYL1	ORPHA:466794
HP:0001272	Cerebellar atrophy	57410	SCYL1	OMIM:616719
HP:0001272	Cerebellar atrophy	6874	TAF4	OMIM:620450
HP:0001272	Cerebellar atrophy	6095	RORA	OMIM:618060
HP:0001272	Cerebellar atrophy	1213	CLTC	OMIM:617854
HP:0001272	Cerebellar atrophy	27183	VPS4A	OMIM:619273
HP:0001272	Cerebellar atrophy	440193	CCDC88C	OMIM:616053
HP:0001272	Cerebellar atrophy	440193	CCDC88C	ORPHA:423275
HP:0001272	Cerebellar atrophy	3908	LAMA2	ORPHA:258
HP:0001272	Cerebellar atrophy	5190	PEX6	ORPHA:95433
HP:0001272	Cerebellar atrophy	9361	LONP1	OMIM:600373
HP:0001272	Cerebellar atrophy	9373	PLAA	ORPHA:521426
HP:0001272	Cerebellar atrophy	6309	SC5D	ORPHA:46059
HP:0001272	Cerebellar atrophy	8882	ZPR1	OMIM:619321
HP:0001272	Cerebellar atrophy	686	BTD	OMIM:253260
HP:0001272	Cerebellar atrophy	819	CAMLG	OMIM:620201
HP:0001272	Cerebellar atrophy	404672	GTF2H5	ORPHA:33364
HP:0001272	Cerebellar atrophy	2068	ERCC2	ORPHA:33364
HP:0001272	Cerebellar atrophy	7737	RNF113A	ORPHA:33364
HP:0001272	Cerebellar atrophy	136647	MPLKIP	ORPHA:33364
HP:0001272	Cerebellar atrophy	6897	TARS1	ORPHA:33364
HP:0001272	Cerebellar atrophy	16	AARS1	ORPHA:33364
HP:0001272	Cerebellar atrophy	2961	GTF2E2	ORPHA:33364
HP:0002352	Leukoencephalopathy	3912	LAMB1	OMIM:615191
HP:0002352	Leukoencephalopathy	3155	HMGCL	ORPHA:20
HP:0002352	Leukoencephalopathy	54539	NDUFB11	ORPHA:2609
HP:0002352	Leukoencephalopathy	25915	NDUFAF3	ORPHA:2609
HP:0002352	Leukoencephalopathy	51103	NDUFAF1	ORPHA:2609
HP:0002352	Leukoencephalopathy	91942	NDUFAF2	ORPHA:2609
HP:0002352	Leukoencephalopathy	91942	NDUFAF2	OMIM:618233
HP:0002352	Leukoencephalopathy	51300	TIMMDC1	ORPHA:2609
HP:0002352	Leukoencephalopathy	4716	NDUFB10	ORPHA:2609
HP:0002352	Leukoencephalopathy	4723	NDUFV1	ORPHA:2609
HP:0002352	Leukoencephalopathy	55572	FOXRED1	ORPHA:2609
HP:0002352	Leukoencephalopathy	284184	NDUFAF8	ORPHA:2609
HP:0002352	Leukoencephalopathy	55863	TMEM126B	ORPHA:2609
HP:0002352	Leukoencephalopathy	4535	MT-ND1	ORPHA:2609
HP:0002352	Leukoencephalopathy	4537	MT-ND3	ORPHA:2609
HP:0002352	Leukoencephalopathy	4729	NDUFV2	ORPHA:2609
HP:0002352	Leukoencephalopathy	4694	NDUFA1	ORPHA:2609
HP:0002352	Leukoencephalopathy	4720	NDUFS2	ORPHA:2609
HP:0002352	Leukoencephalopathy	4724	NDUFS4	ORPHA:2609
HP:0002352	Leukoencephalopathy	4724	NDUFS4	OMIM:252010
HP:0002352	Leukoencephalopathy	4726	NDUFS6	ORPHA:2609
HP:0002352	Leukoencephalopathy	4728	NDUFS8	ORPHA:2609
HP:0002352	Leukoencephalopathy	4722	NDUFS3	ORPHA:2609
HP:0002352	Leukoencephalopathy	79133	NDUFAF5	ORPHA:2609
HP:0002352	Leukoencephalopathy	126328	NDUFA11	ORPHA:2609
HP:0002352	Leukoencephalopathy	4709	NDUFB3	ORPHA:2609
HP:0002352	Leukoencephalopathy	80224	NUBPL	ORPHA:2609
HP:0002352	Leukoencephalopathy	80224	NUBPL	OMIM:618242
HP:0002352	Leukoencephalopathy	29078	NDUFAF4	ORPHA:2609
HP:0002352	Leukoencephalopathy	374291	NDUFS7	ORPHA:2609
HP:0002352	Leukoencephalopathy	4700	NDUFA6	ORPHA:2609
HP:0002352	Leukoencephalopathy	4536	MT-ND2	ORPHA:2609
HP:0002352	Leukoencephalopathy	4719	NDUFS1	ORPHA:2609
HP:0002352	Leukoencephalopathy	4719	NDUFS1	OMIM:618226
HP:0002352	Leukoencephalopathy	4715	NDUFB9	ORPHA:2609
HP:0002352	Leukoencephalopathy	65260	COA7	OMIM:618387
HP:0002352	Leukoencephalopathy	92935	MARS2	OMIM:611390
HP:0002352	Leukoencephalopathy	92935	MARS2	ORPHA:314603
HP:0002352	Leukoencephalopathy	4574	MT-TS1	OMIM:220110
HP:0002352	Leukoencephalopathy	4570	MT-TN	OMIM:220110
HP:0002352	Leukoencephalopathy	6834	SURF1	OMIM:220110
HP:0002352	Leukoencephalopathy	100996717	NOTCH2NLC	OMIM:619473
HP:0002352	Leukoencephalopathy	100996717	NOTCH2NLC	OMIM:603472
HP:0002352	Leukoencephalopathy	54973	INTS11	OMIM:620428
HP:0002352	Leukoencephalopathy	1890	TYMP	OMIM:603041
HP:0002352	Leukoencephalopathy	1890	TYMP	ORPHA:298
HP:0002352	Leukoencephalopathy	5428	POLG	OMIM:603041
HP:0002352	Leukoencephalopathy	5428	POLG	ORPHA:298
HP:0002352	Leukoencephalopathy	1282	COL4A1	OMIM:175780
HP:0002352	Leukoencephalopathy	22934	RPIA	OMIM:608611
HP:0002352	Leukoencephalopathy	8496	PPFIBP1	OMIM:620024
HP:0002352	Leukoencephalopathy	11267	SNF8	OMIM:620783
HP:0002352	Leukoencephalopathy	56945	MRPS22	OMIM:611719
HP:0002352	Leukoencephalopathy	54209	TREM2	OMIM:618193
HP:0002352	Leukoencephalopathy	9131	AIFM1	ORPHA:83629
HP:0002352	Leukoencephalopathy	26275	HIBCH	ORPHA:88639
HP:0002352	Leukoencephalopathy	11277	TREX1	OMIM:225750
HP:0002352	Leukoencephalopathy	128240	NAXE	OMIM:617186
HP:0002352	Leukoencephalopathy	1615	DARS1	OMIM:615281
HP:0002352	Leukoencephalopathy	644096	SDHAF1	OMIM:619166
HP:0002352	Leukoencephalopathy	91875	TTC5	OMIM:619244
HP:0002352	Leukoencephalopathy	4780	NFE2L2	OMIM:617744
HP:0002352	Leukoencephalopathy	7453	WARS1	OMIM:620317
HP:0002352	Leukoencephalopathy	10730	YME1L1	OMIM:617302
HP:0002352	Leukoencephalopathy	9373	PLAA	ORPHA:521426
HP:0002352	Leukoencephalopathy	54982	CLN6	OMIM:204300
HP:0002352	Leukoencephalopathy	57505	AARS2	OMIM:615889
HP:0002352	Leukoencephalopathy	8891	EIF2B3	OMIM:620313
HP:0002352	Leukoencephalopathy	8890	EIF2B4	OMIM:620314
HP:0002352	Leukoencephalopathy	8892	EIF2B2	OMIM:620312
HP:0002352	Leukoencephalopathy	79944	L2HGDH	OMIM:236792
HP:0002352	Leukoencephalopathy	3980	LIG3	ORPHA:298
HP:0002352	Leukoencephalopathy	50484	RRM2B	ORPHA:298
HP:0002352	Leukoencephalopathy	4854	NOTCH3	ORPHA:136
HP:0002352	Leukoencephalopathy	4854	NOTCH3	OMIM:125310
HP:0002352	Leukoencephalopathy	79709	COLGALT1	OMIM:618360
HP:0002352	Leukoencephalopathy	1436	CSF1R	OMIM:221820
HP:0002352	Leukoencephalopathy	727676	SNORD118	OMIM:614561
HP:0002352	Leukoencephalopathy	727676	SNORD118	ORPHA:542310
HP:0002352	Leukoencephalopathy	1181	CLCN2	OMIM:615651
HP:0002352	Leukoencephalopathy	9512	PMPCB	OMIM:617954
HP:0002352	Leukoencephalopathy	10352	WARS2	OMIM:617710
HP:0002352	Leukoencephalopathy	10352	WARS2	ORPHA:572798
HP:0002352	Leukoencephalopathy	25974	MMACHC	ORPHA:79282
HP:0002352	Leukoencephalopathy	25913	POT1	OMIM:620368
HP:0002352	Leukoencephalopathy	6329	SCN4A	OMIM:620369
HP:0002352	Leukoencephalopathy	124454	EARS2	OMIM:614924
HP:0002352	Leukoencephalopathy	549	AUH	OMIM:250950
HP:0002352	Leukoencephalopathy	6389	SDHA	OMIM:252011
HP:0002352	Leukoencephalopathy	79053	ALG8	ORPHA:79325
HP:0002352	Leukoencephalopathy	1967	EIF2B1	OMIM:603896
HP:0002352	Leukoencephalopathy	64802	NMNAT1	OMIM:619260
HP:0002352	Leukoencephalopathy	5654	HTRA1	OMIM:600142
HP:0002352	Leukoencephalopathy	148789	B3GALNT2	OMIM:615181
HP:0002352	Leukoencephalopathy	27247	NFU1	OMIM:605711
HP:0002352	Leukoencephalopathy	54968	TMEM70	OMIM:614052
HP:0002352	Leukoencephalopathy	3735	KARS1	OMIM:619147
HP:0002352	Leukoencephalopathy	8802	SUCLG1	ORPHA:17
HP:0002352	Leukoencephalopathy	7305	TYROBP	OMIM:221770
HP:0002352	Leukoencephalopathy	16	AARS1	OMIM:619661
HP:0002352	Leukoencephalopathy	80169	CTC1	OMIM:612199
HP:0002352	Leukoencephalopathy	8635	RNASET2	OMIM:612951
HP:0002352	Leukoencephalopathy	55157	DARS2	OMIM:611105
HP:0002352	Leukoencephalopathy	25939	SAMHD1	OMIM:612952
HP:0002352	Leukoencephalopathy	6342	SCP2	OMIM:613724
HP:0002352	Leukoencephalopathy	9997	SCO2	OMIM:604377
HP:0002352	Leukoencephalopathy	4524	MTHFR	ORPHA:395
HP:0002352	Leukoencephalopathy	10717	AP4B1	OMIM:614066
HP:0002352	Leukoencephalopathy	10717	AP4B1	ORPHA:280763
HP:0002352	Leukoencephalopathy	51501	HIKESHI	OMIM:616881
HP:0002352	Leukoencephalopathy	998	CDC42	ORPHA:487796
HP:0002352	Leukoencephalopathy	998	CDC42	OMIM:616737
HP:0002352	Leukoencephalopathy	55823	VPS11	ORPHA:466934
HP:0002352	Leukoencephalopathy	1593	CYP27A1	OMIM:213700
HP:0002352	Leukoencephalopathy	8818	DPM2	ORPHA:329178
HP:0002352	Leukoencephalopathy	51091	SEPSECS	OMIM:613811
HP:0002352	Leukoencephalopathy	81570	CLPB	OMIM:619835
HP:0002352	Leukoencephalopathy	90624	LYRM7	OMIM:615838
HP:0002352	Leukoencephalopathy	85358	SHANK3	OMIM:606232
HP:0002352	Leukoencephalopathy	25914	RTTN	ORPHA:468631
HP:0002352	Leukoencephalopathy	285362	SUMF1	OMIM:272200
HP:0002352	Leukoencephalopathy	79783	SUGCT	ORPHA:35706
HP:0002352	Leukoencephalopathy	5660	PSAP	OMIM:249900
HP:0002352	Leukoencephalopathy	5660	PSAP	OMIM:611721
HP:0002352	Leukoencephalopathy	5660	PSAP	ORPHA:206436
HP:0002352	Leukoencephalopathy	54344	DPM3	OMIM:618992
HP:0002352	Leukoencephalopathy	2670	GFAP	ORPHA:363722
HP:0002352	Leukoencephalopathy	122961	ISCA2	OMIM:616370
HP:0002352	Leukoencephalopathy	55159	RFWD3	OMIM:617784
HP:0002352	Leukoencephalopathy	4010	LMX1B	ORPHA:495818
HP:0002352	Leukoencephalopathy	6812	STXBP1	ORPHA:495818
HP:0002352	Leukoencephalopathy	284217	LAMA1	OMIM:615960
HP:0002352	Leukoencephalopathy	271	AMPD2	OMIM:615686
HP:0002352	Leukoencephalopathy	271	AMPD2	ORPHA:401805
HP:0002352	Leukoencephalopathy	23400	ATP13A2	OMIM:617225
HP:0002352	Leukoencephalopathy	23400	ATP13A2	ORPHA:513436
HP:0002352	Leukoencephalopathy	3781	KCNN2	OMIM:619725
HP:0002352	Leukoencephalopathy	9215	LARGE1	OMIM:608840
HP:0002352	Leukoencephalopathy	9215	LARGE1	ORPHA:370968
HP:0002352	Leukoencephalopathy	80208	SPG11	OMIM:604360
HP:0002352	Leukoencephalopathy	29925	GMPPB	ORPHA:370968
HP:0002352	Leukoencephalopathy	79147	FKRP	ORPHA:370968
HP:0002352	Leukoencephalopathy	29954	POMT2	ORPHA:370968
HP:0002352	Leukoencephalopathy	10585	POMT1	ORPHA:370968
HP:0002352	Leukoencephalopathy	10059	DNM1L	ORPHA:98673
HP:0002352	Leukoencephalopathy	4976	OPA1	ORPHA:98673
HP:0002352	Leukoencephalopathy	9179	AP4M1	ORPHA:280763
HP:0002352	Leukoencephalopathy	11154	AP4S1	ORPHA:280763
HP:0002352	Leukoencephalopathy	23431	AP4E1	ORPHA:280763
HP:0002352	Leukoencephalopathy	6748	SSR4	ORPHA:370927
HP:0002352	Leukoencephalopathy	215	ABCD1	ORPHA:139396
HP:0002352	Leukoencephalopathy	7317	UBA1	ORPHA:1145
HP:0002352	Leukoencephalopathy	5879	RAC1	ORPHA:500159
HP:0002352	Leukoencephalopathy	283989	TSEN54	OMIM:277470
HP:0002352	Leukoencephalopathy	8560	DEGS1	OMIM:618404
HP:0002352	Leukoencephalopathy	2581	GALC	ORPHA:206436
HP:0002352	Leukoencephalopathy	5832	ALDH18A1	ORPHA:447760
HP:0002352	Leukoencephalopathy	4208	MEF2C	OMIM:613443
HP:0002352	Leukoencephalopathy	93627	TBCK	ORPHA:488632
HP:0002352	Leukoencephalopathy	79152	FA2H	OMIM:612319
HP:0002352	Leukoencephalopathy	760	CA2	ORPHA:2785
HP:0002352	Leukoencephalopathy	54	ACP5	ORPHA:1855
HP:0002352	Leukoencephalopathy	5621	PRNP	ORPHA:282166
HP:0002352	Leukoencephalopathy	220296	HEPACAM	OMIM:604004
HP:0002352	Leukoencephalopathy	23209	MLC1	OMIM:604004
HP:0002352	Leukoencephalopathy	435	ASL	ORPHA:23
HP:0002352	Leukoencephalopathy	22827	PUF60	ORPHA:508498
HP:0002352	Leukoencephalopathy	80267	EDEM3	OMIM:619493
HP:0002352	Leukoencephalopathy	5091	PC	OMIM:266150
HP:0002352	Leukoencephalopathy	4718	NDUFC2	OMIM:619170
HP:0002352	Leukoencephalopathy	7874	USP7	ORPHA:500055
HP:0002352	Leukoencephalopathy	55621	TRMT1	OMIM:618302
HP:0002352	Leukoencephalopathy	197258	FCSK	OMIM:618324
HP:0002352	Leukoencephalopathy	6651	SON	ORPHA:500150
HP:0002352	Leukoencephalopathy	6651	SON	OMIM:617140
HP:0002352	Leukoencephalopathy	26047	CNTNAP2	OMIM:610042
HP:0002352	Leukoencephalopathy	26047	CNTNAP2	ORPHA:163681
HP:0002352	Leukoencephalopathy	79029	AFG2B	OMIM:619616
HP:0002352	Leukoencephalopathy	57479	PRR12	OMIM:619539
HP:0002352	Leukoencephalopathy	51002	TPRKB	OMIM:617731
HP:0002352	Leukoencephalopathy	57514	ARHGAP31	OMIM:100300
HP:0002352	Leukoencephalopathy	57514	ARHGAP31	ORPHA:974
HP:0002352	Leukoencephalopathy	4897	NRCAM	OMIM:619833
HP:0002352	Leukoencephalopathy	1183	CLCN4	ORPHA:485350
HP:0002352	Leukoencephalopathy	3098	HK1	OMIM:618547
HP:0002352	Leukoencephalopathy	23259	DDHD2	ORPHA:320380
HP:0002352	Leukoencephalopathy	5927	KDM5A	OMIM:620820
HP:0002352	Leukoencephalopathy	404672	GTF2H5	ORPHA:33364
HP:0002352	Leukoencephalopathy	833	CARS1	ORPHA:33364
HP:0002352	Leukoencephalopathy	2068	ERCC2	ORPHA:33364
HP:0002352	Leukoencephalopathy	7737	RNF113A	ORPHA:33364
HP:0002352	Leukoencephalopathy	136647	MPLKIP	ORPHA:33364
HP:0002352	Leukoencephalopathy	6897	TARS1	ORPHA:33364
HP:0002352	Leukoencephalopathy	2071	ERCC3	ORPHA:33364
HP:0002352	Leukoencephalopathy	2961	GTF2E2	ORPHA:33364
HP:0002352	Leukoencephalopathy	9361	LONP1	ORPHA:79243
HP:0002352	Leukoencephalopathy	5160	PDHA1	ORPHA:79243
HP:0002352	Leukoencephalopathy	2972	BRF1	ORPHA:444072
HP:0002352	Leukoencephalopathy	5162	PDHB	ORPHA:255138
HP:0002352	Leukoencephalopathy	8621	CDK13	OMIM:617360
HP:0002352	Leukoencephalopathy	7543	ZFX	OMIM:301118
HP:0002352	Leukoencephalopathy	22880	MORC2	ORPHA:466768
HP:0002352	Leukoencephalopathy	375387	NRROS	OMIM:618875
HP:0002352	Leukoencephalopathy	200424	TET3	OMIM:618798
HP:0002352	Leukoencephalopathy	55753	OGDHL	OMIM:619701
HP:0002352	Leukoencephalopathy	10664	CTCF	OMIM:615502
HP:0002352	Leukoencephalopathy	196528	ARID2	OMIM:617808
HP:0002352	Leukoencephalopathy	26834	RNU4-2	OMIM:620851
HP:0002352	Leukoencephalopathy	3516	RBPJ	ORPHA:974
HP:0002352	Leukoencephalopathy	4851	NOTCH1	ORPHA:974
HP:0002352	Leukoencephalopathy	57572	DOCK6	ORPHA:974
HP:0002352	Leukoencephalopathy	285203	EOGT	ORPHA:974
HP:0002352	Leukoencephalopathy	54567	DLL4	ORPHA:974
HP:0002352	Leukoencephalopathy	90952	ESAM	OMIM:620371
HP:0002352	Leukoencephalopathy	84334	COA8	ORPHA:436271
HP:0002352	Leukoencephalopathy	3798	KIF5A	OMIM:617235
HP:0002352	Leukoencephalopathy	4358	MPV17	OMIM:256810
HP:0002352	Leukoencephalopathy	100147744	RNU7-1	OMIM:619487
HP:0002352	Leukoencephalopathy	4001	LMNB1	OMIM:169500
HP:0002352	Leukoencephalopathy	5277	PIGA	OMIM:300868
HP:0002352	Leukoencephalopathy	4953	ODC1	OMIM:619075
HP:0002352	Leukoencephalopathy	4953	ODC1	ORPHA:544488
HP:0002352	Leukoencephalopathy	26235	FBXL4	OMIM:615471
HP:0002352	Leukoencephalopathy	790955	UQCC3	OMIM:616111
HP:0002352	Leukoencephalopathy	2193	FARSA	OMIM:619013
HP:0002352	Leukoencephalopathy	387787	LIPT2	OMIM:617668
HP:0002352	Leukoencephalopathy	7468	NSD2	OMIM:194190
HP:0002352	Leukoencephalopathy	10815	CPLX1	OMIM:194190
HP:0002352	Leukoencephalopathy	1487	CTBP1	OMIM:194190
HP:0002352	Leukoencephalopathy	53834	FGFRL1	OMIM:194190
HP:0002352	Leukoencephalopathy	3954	LETM1	OMIM:194190
HP:0002352	Leukoencephalopathy	4952	OCRL	OMIM:309000
HP:0002352	Leukoencephalopathy	8050	PDHX	ORPHA:255182
HP:0002352	Leukoencephalopathy	410	ARSA	ORPHA:309271
HP:0002352	Leukoencephalopathy	410	ARSA	ORPHA:309263
HP:0002352	Leukoencephalopathy	410	ARSA	ORPHA:309256
HP:0002352	Leukoencephalopathy	1267	CNP	OMIM:619071
HP:0002352	Leukoencephalopathy	2760	GM2A	ORPHA:309246
HP:0002352	Leukoencephalopathy	51324	SPG21	OMIM:248900
HP:0002352	Leukoencephalopathy	84065	TMEM222	OMIM:619470
HP:0002352	Leukoencephalopathy	7555	CNBP	OMIM:602668
HP:0002352	Leukoencephalopathy	6134	RPL10	OMIM:300998
HP:0002352	Leukoencephalopathy	5058	PAK1	OMIM:618158
HP:0002352	Leukoencephalopathy	4761	NEUROD2	OMIM:618374
HP:0002352	Leukoencephalopathy	22866	CNKSR2	OMIM:301008
HP:0002352	Leukoencephalopathy	9692	PRORP	OMIM:619737
HP:0002352	Leukoencephalopathy	92335	STRADA	ORPHA:500533
HP:0002352	Leukoencephalopathy	51412	ACTL6B	OMIM:618468
HP:0002352	Leukoencephalopathy	2783	GNB2	OMIM:619503
HP:0002352	Leukoencephalopathy	7920	ABHD16A	OMIM:619735
HP:0002352	Leukoencephalopathy	25782	RAB3GAP2	OMIM:212720
HP:0002352	Leukoencephalopathy	85465	SELENOI	OMIM:618768
HP:0002352	Leukoencephalopathy	59	ACTA2	OMIM:613834
HP:0002352	Leukoencephalopathy	9907	AP5Z1	OMIM:613647
HP:0002352	Leukoencephalopathy	80036	TRPM3	OMIM:620224
HP:0002352	Leukoencephalopathy	10060	ABCC9	OMIM:619719
HP:0007074	Thick corpus callosum	5296	PIK3R2	OMIM:603387
HP:0007074	Thick corpus callosum	8925	HERC1	ORPHA:457359
HP:0007074	Thick corpus callosum	8925	HERC1	OMIM:617011
HP:0007074	Thick corpus callosum	51256	TBC1D7	OMIM:248000
HP:0007074	Thick corpus callosum	4841	NONO	OMIM:300967
HP:0007074	Thick corpus callosum	22983	MAST1	OMIM:618273
HP:0007074	Thick corpus callosum	4849	CNOT3	OMIM:618672
HP:0007074	Thick corpus callosum	51780	KDM3B	OMIM:618846
HP:0007074	Thick corpus callosum	7283	TUBG1	OMIM:615412
HP:0007074	Thick corpus callosum	26047	CNTNAP2	OMIM:610042
HP:0007074	Thick corpus callosum	477	ATP1A2	OMIM:619605
HP:0007074	Thick corpus callosum	478	ATP1A3	OMIM:619606
HP:0007074	Thick corpus callosum	815	CAMK2A	OMIM:617798
HP:0007074	Thick corpus callosum	23334	SZT2	OMIM:615476
HP:0007074	Thick corpus callosum	57282	SLC4A10	OMIM:620746
HP:0007074	Thick corpus callosum	4953	ODC1	ORPHA:544488
HP:0007074	Thick corpus callosum	894	CCND2	OMIM:615938
HP:0007074	Thick corpus callosum	54496	PRMT7	ORPHA:464288
HP:0007074	Thick corpus callosum	113246	C12orf57	OMIM:218340
HP:0007074	Thick corpus callosum	157680	VPS13B	OMIM:216550
HP:0012370	Prominence of the zygomatic bone	56172	ANKH	OMIM:123000
HP:0012370	Prominence of the zygomatic bone	760	CA2	ORPHA:2785
HP:0012371	Hyperplasia of midface	92335	STRADA	OMIM:611087
HP:0012371	Hyperplasia of midface	1297	COL9A1	OMIM:614134
HP:0012371	Hyperplasia of midface	23111	SPART	OMIM:275900
HP:0012371	Hyperplasia of midface	286053	NSMCE2	OMIM:617253
HP:0012371	Hyperplasia of midface	10265	IRX5	OMIM:611174
HP:0012372	Abnormal eye morphology	26235	FBXL4	OMIM:615471
HP:0012372	Abnormal eye morphology	8216	LZTR1	OMIM:616564
HP:0012372	Abnormal eye morphology	8216	LZTR1	OMIM:605275
HP:0012372	Abnormal eye morphology	8216	LZTR1	ORPHA:648
HP:0012372	Abnormal eye morphology	2304	FOXE1	OMIM:241850
HP:0012372	Abnormal eye morphology	4897	NRCAM	OMIM:619833
HP:0012372	Abnormal eye morphology	7021	TFAP2B	OMIM:169100
HP:0012372	Abnormal eye morphology	7021	TFAP2B	ORPHA:46627
HP:0012372	Abnormal eye morphology	5927	KDM5A	OMIM:620820
HP:0012372	Abnormal eye morphology	1788	DNMT3A	ORPHA:404443
HP:0012372	Abnormal eye morphology	1788	DNMT3A	OMIM:615879
HP:0012372	Abnormal eye morphology	51	ACOX1	ORPHA:2971
HP:0012372	Abnormal eye morphology	51	ACOX1	OMIM:264470
HP:0012372	Abnormal eye morphology	5781	PTPN11	OMIM:156250
HP:0012372	Abnormal eye morphology	5781	PTPN11	ORPHA:500
HP:0012372	Abnormal eye morphology	5781	PTPN11	ORPHA:648
HP:0012372	Abnormal eye morphology	5781	PTPN11	OMIM:151100
HP:0012372	Abnormal eye morphology	5781	PTPN11	OMIM:163950
HP:0012372	Abnormal eye morphology	4125	MAN2B1	ORPHA:309282
HP:0012372	Abnormal eye morphology	6662	SOX9	ORPHA:140
HP:0012372	Abnormal eye morphology	6662	SOX9	OMIM:114290
HP:0012372	Abnormal eye morphology	9578	CDC42BPB	OMIM:619841
HP:0012372	Abnormal eye morphology	80816	ASXL3	OMIM:615485
HP:0012372	Abnormal eye morphology	80816	ASXL3	ORPHA:352577
HP:0012372	Abnormal eye morphology	27245	AHDC1	ORPHA:412069
HP:0012372	Abnormal eye morphology	27245	AHDC1	OMIM:615829
HP:0012372	Abnormal eye morphology	2137	EXTL3	OMIM:617425
HP:0012372	Abnormal eye morphology	5184	PEPD	OMIM:170100
HP:0012372	Abnormal eye morphology	5184	PEPD	ORPHA:742
HP:0012372	Abnormal eye morphology	2132	EXT2	ORPHA:466926
HP:0012372	Abnormal eye morphology	2132	EXT2	OMIM:616682
HP:0012372	Abnormal eye morphology	84520	GON7	OMIM:619603
HP:0012372	Abnormal eye morphology	84520	GON7	ORPHA:2065
HP:0012372	Abnormal eye morphology	24142	NAA80	OMIM:620830
HP:0012372	Abnormal eye morphology	57082	KNL1	OMIM:604321
HP:0012372	Abnormal eye morphology	79158	GNPTAB	OMIM:252500
HP:0012372	Abnormal eye morphology	55650	PIGV	OMIM:239300
HP:0012372	Abnormal eye morphology	55650	PIGV	ORPHA:247262
HP:0012372	Abnormal eye morphology	79868	ALG13	ORPHA:324422
HP:0012372	Abnormal eye morphology	79868	ALG13	OMIM:300884
HP:0012372	Abnormal eye morphology	10606	PAICS	OMIM:619859
HP:0012372	Abnormal eye morphology	10484	SEC23A	OMIM:607812
HP:0012372	Abnormal eye morphology	10484	SEC23A	ORPHA:50814
HP:0012372	Abnormal eye morphology	1500	CTNND1	OMIM:617681
HP:0012372	Abnormal eye morphology	1500	CTNND1	ORPHA:1997
HP:0012372	Abnormal eye morphology	4330	MN1	OMIM:618774
HP:0012372	Abnormal eye morphology	5528	PPP2R5D	OMIM:616355
HP:0012372	Abnormal eye morphology	64121	RRAGC	OMIM:620609
HP:0012372	Abnormal eye morphology	23327	NEDD4L	OMIM:617201
HP:0012372	Abnormal eye morphology	8036	SHOC2	ORPHA:2701
HP:0012372	Abnormal eye morphology	8036	SHOC2	OMIM:607721
HP:0012372	Abnormal eye morphology	5500	PPP1CB	ORPHA:2701
HP:0012372	Abnormal eye morphology	5500	PPP1CB	OMIM:617506
HP:0012372	Abnormal eye morphology	11193	WBP4	OMIM:620852
HP:0012372	Abnormal eye morphology	6602	SMARCD1	OMIM:618779
HP:0012372	Abnormal eye morphology	26040	SETBP1	OMIM:269150
HP:0012372	Abnormal eye morphology	26040	SETBP1	ORPHA:798
HP:0012372	Abnormal eye morphology	26040	SETBP1	OMIM:616078
HP:0012372	Abnormal eye morphology	92482	BBIP1	ORPHA:110
HP:0012372	Abnormal eye morphology	11020	IFT27	ORPHA:110
HP:0012372	Abnormal eye morphology	51057	WDPCP	ORPHA:110
HP:0012372	Abnormal eye morphology	51057	WDPCP	OMIM:217085
HP:0012372	Abnormal eye morphology	132320	SCLT1	ORPHA:110
HP:0012372	Abnormal eye morphology	27241	BBS9	ORPHA:110
HP:0012372	Abnormal eye morphology	84984	CEP19	ORPHA:110
HP:0012372	Abnormal eye morphology	22954	TRIM32	ORPHA:110
HP:0012372	Abnormal eye morphology	79738	BBS10	ORPHA:110
HP:0012372	Abnormal eye morphology	585	BBS4	ORPHA:110
HP:0012372	Abnormal eye morphology	8195	MKKS	ORPHA:110
HP:0012372	Abnormal eye morphology	54585	LZTFL1	ORPHA:110
HP:0012372	Abnormal eye morphology	55212	BBS7	ORPHA:110
HP:0012372	Abnormal eye morphology	55212	BBS7	OMIM:615984
HP:0012372	Abnormal eye morphology	166379	BBS12	ORPHA:110
HP:0012372	Abnormal eye morphology	10806	SDCCAG8	ORPHA:110
HP:0012372	Abnormal eye morphology	129880	BBS5	ORPHA:110
HP:0012372	Abnormal eye morphology	5518	PPP2R1A	OMIM:616362
HP:0012372	Abnormal eye morphology	5518	PPP2R1A	ORPHA:457284
HP:0012372	Abnormal eye morphology	1186	CLCN7	OMIM:618541
HP:0012372	Abnormal eye morphology	55768	NGLY1	OMIM:615273
HP:0012372	Abnormal eye morphology	23512	SUZ12	OMIM:618786
HP:0012372	Abnormal eye morphology	23512	SUZ12	ORPHA:3447
HP:0012372	Abnormal eye morphology	3590	IL11RA	OMIM:614188
HP:0012372	Abnormal eye morphology	57680	CHD8	OMIM:615032
HP:0012372	Abnormal eye morphology	57680	CHD8	ORPHA:261229
HP:0012372	Abnormal eye morphology	8558	CDK10	OMIM:617694
HP:0012372	Abnormal eye morphology	27125	AFF4	OMIM:616368
HP:0012372	Abnormal eye morphology	116115	ZNF526	OMIM:619877
HP:0012372	Abnormal eye morphology	5979	RET	ORPHA:1848
HP:0012372	Abnormal eye morphology	8516	ITGA8	ORPHA:1848
HP:0012372	Abnormal eye morphology	8516	ITGA8	OMIM:191830
HP:0012372	Abnormal eye morphology	26281	FGF20	ORPHA:1848
HP:0012372	Abnormal eye morphology	2674	GFRA1	ORPHA:1848
HP:0012372	Abnormal eye morphology	7484	WNT9B	ORPHA:1848
HP:0012372	Abnormal eye morphology	80000	GREB1L	ORPHA:1848
HP:0012372	Abnormal eye morphology	54828	BCAS3	OMIM:619641
HP:0012372	Abnormal eye morphology	9772	TMEM94	OMIM:618316
HP:0012372	Abnormal eye morphology	79633	FAT4	ORPHA:314679
HP:0012372	Abnormal eye morphology	79633	FAT4	ORPHA:2136
HP:0012372	Abnormal eye morphology	79633	FAT4	OMIM:616006
HP:0012372	Abnormal eye morphology	79633	FAT4	OMIM:615546
HP:0012372	Abnormal eye morphology	8642	DCHS1	ORPHA:314679
HP:0012372	Abnormal eye morphology	8642	DCHS1	OMIM:601390
HP:0012372	Abnormal eye morphology	57688	ZSWIM6	OMIM:603671
HP:0012372	Abnormal eye morphology	57688	ZSWIM6	ORPHA:1827
HP:0012372	Abnormal eye morphology	3930	LBR	OMIM:215140
HP:0012372	Abnormal eye morphology	3930	LBR	OMIM:169400
HP:0012372	Abnormal eye morphology	2239	GPC4	ORPHA:373
HP:0012372	Abnormal eye morphology	2239	GPC4	OMIM:301026
HP:0012372	Abnormal eye morphology	2239	GPC4	OMIM:312870
HP:0012372	Abnormal eye morphology	2239	GPC4	ORPHA:2662
HP:0012372	Abnormal eye morphology	2719	GPC3	ORPHA:373
HP:0012372	Abnormal eye morphology	2719	GPC3	OMIM:312870
HP:0012372	Abnormal eye morphology	23483	TGDS	OMIM:616145
HP:0012372	Abnormal eye morphology	23483	TGDS	ORPHA:1388
HP:0012372	Abnormal eye morphology	84168	ANTXR1	OMIM:230740
HP:0012372	Abnormal eye morphology	84168	ANTXR1	ORPHA:2067
HP:0012372	Abnormal eye morphology	64919	BCL11B	OMIM:617237
HP:0012372	Abnormal eye morphology	64919	BCL11B	OMIM:618092
HP:0012372	Abnormal eye morphology	2720	GLB1	OMIM:230500
HP:0012372	Abnormal eye morphology	23499	MACF1	OMIM:618325
HP:0012372	Abnormal eye morphology	6138	RPL15	ORPHA:124
HP:0012372	Abnormal eye morphology	6224	RPS20	ORPHA:124
HP:0012372	Abnormal eye morphology	6165	RPL35A	ORPHA:124
HP:0012372	Abnormal eye morphology	6165	RPL35A	OMIM:612528
HP:0012372	Abnormal eye morphology	6132	RPL8	ORPHA:124
HP:0012372	Abnormal eye morphology	6223	RPS19	ORPHA:124
HP:0012372	Abnormal eye morphology	6223	RPS19	OMIM:105650
HP:0012372	Abnormal eye morphology	6232	RPS27	ORPHA:124
HP:0012372	Abnormal eye morphology	55027	HEATR3	ORPHA:124
HP:0012372	Abnormal eye morphology	55027	HEATR3	OMIM:620072
HP:0012372	Abnormal eye morphology	6160	RPL31	ORPHA:124
HP:0012372	Abnormal eye morphology	6201	RPS7	ORPHA:124
HP:0012372	Abnormal eye morphology	6201	RPS7	OMIM:612563
HP:0012372	Abnormal eye morphology	6155	RPL27	ORPHA:124
HP:0012372	Abnormal eye morphology	6234	RPS28	ORPHA:124
HP:0012372	Abnormal eye morphology	6135	RPL11	ORPHA:124
HP:0012372	Abnormal eye morphology	6229	RPS24	ORPHA:124
HP:0012372	Abnormal eye morphology	6125	RPL5	ORPHA:124
HP:0012372	Abnormal eye morphology	6125	RPL5	OMIM:612561
HP:0012372	Abnormal eye morphology	6204	RPS10	ORPHA:124
HP:0012372	Abnormal eye morphology	6133	RPL9	ORPHA:124
HP:0012372	Abnormal eye morphology	6231	RPS26	ORPHA:124
HP:0012372	Abnormal eye morphology	11224	RPL35	ORPHA:124
HP:0012372	Abnormal eye morphology	6218	RPS17	ORPHA:124
HP:0012372	Abnormal eye morphology	6154	RPL26	ORPHA:124
HP:0012372	Abnormal eye morphology	6210	RPS15A	ORPHA:124
HP:0012372	Abnormal eye morphology	90121	TSR2	ORPHA:124
HP:0012372	Abnormal eye morphology	6141	RPL18	ORPHA:124
HP:0012372	Abnormal eye morphology	6235	RPS29	ORPHA:124
HP:0012372	Abnormal eye morphology	51816	ADA2	ORPHA:124
HP:0012372	Abnormal eye morphology	25970	SH2B1	ORPHA:261197
HP:0012372	Abnormal eye morphology	56160	NSMCE3	OMIM:617241
HP:0012372	Abnormal eye morphology	5881	RAC3	OMIM:618577
HP:0012372	Abnormal eye morphology	55656	INTS8	OMIM:618572
HP:0012372	Abnormal eye morphology	84188	FAR1	OMIM:616154
HP:0012372	Abnormal eye morphology	84188	FAR1	ORPHA:438178
HP:0012372	Abnormal eye morphology	5910	RAP1GDS1	OMIM:620655
HP:0012372	Abnormal eye morphology	7291	TWIST1	ORPHA:794
HP:0012372	Abnormal eye morphology	7291	TWIST1	OMIM:180750
HP:0012372	Abnormal eye morphology	7291	TWIST1	OMIM:101400
HP:0012372	Abnormal eye morphology	7291	TWIST1	ORPHA:35099
HP:0012372	Abnormal eye morphology	7291	TWIST1	OMIM:617746
HP:0012372	Abnormal eye morphology	9488	PIGB	OMIM:618580
HP:0012372	Abnormal eye morphology	57459	GATAD2B	OMIM:615074
HP:0012372	Abnormal eye morphology	57459	GATAD2B	ORPHA:363686
HP:0012372	Abnormal eye morphology	8925	HERC1	OMIM:617011
HP:0012372	Abnormal eye morphology	8925	HERC1	ORPHA:457359
HP:0012372	Abnormal eye morphology	8473	OGT	OMIM:300997
HP:0012372	Abnormal eye morphology	54973	INTS11	OMIM:620428
HP:0012372	Abnormal eye morphology	6418	SET	OMIM:618106
HP:0012372	Abnormal eye morphology	79813	EHMT1	ORPHA:96147
HP:0012372	Abnormal eye morphology	79813	EHMT1	OMIM:610253
HP:0012372	Abnormal eye morphology	4703	NEB	OMIM:256030
HP:0012372	Abnormal eye morphology	4703	NEB	ORPHA:171433
HP:0012372	Abnormal eye morphology	4703	NEB	ORPHA:171439
HP:0012372	Abnormal eye morphology	7372	UMPS	ORPHA:30
HP:0012372	Abnormal eye morphology	5515	PPP2CA	OMIM:618354
HP:0012372	Abnormal eye morphology	23114	NFASC	OMIM:618356
HP:0012372	Abnormal eye morphology	5649	RELN	ORPHA:89844
HP:0012372	Abnormal eye morphology	10300	KATNB1	ORPHA:89844
HP:0012372	Abnormal eye morphology	54820	NDE1	ORPHA:89844
HP:0012372	Abnormal eye morphology	56975	FAM20C	OMIM:259775
HP:0012372	Abnormal eye morphology	5934	RBL2	OMIM:619690
HP:0012372	Abnormal eye morphology	55777	MBD5	OMIM:156200
HP:0012372	Abnormal eye morphology	3039	HBA1	ORPHA:98791
HP:0012372	Abnormal eye morphology	3040	HBA2	ORPHA:98791
HP:0012372	Abnormal eye morphology	51132	RLIM	OMIM:300978
HP:0012372	Abnormal eye morphology	51434	ANAPC7	OMIM:619699
HP:0012372	Abnormal eye morphology	551	AVP	OMIM:125700
HP:0012372	Abnormal eye morphology	201163	FLCN	OMIM:610883
HP:0012372	Abnormal eye morphology	3183	HNRNPC	OMIM:620688
HP:0012372	Abnormal eye morphology	6045	RNF2	OMIM:619460
HP:0012372	Abnormal eye morphology	23111	SPART	ORPHA:101000
HP:0012372	Abnormal eye morphology	23111	SPART	OMIM:275900
HP:0012372	Abnormal eye morphology	633	BGN	OMIM:300989
HP:0012372	Abnormal eye morphology	63931	MRPS14	OMIM:618378
HP:0012372	Abnormal eye morphology	3188	HNRNPH2	OMIM:300986
HP:0012372	Abnormal eye morphology	55605	KIF21A	ORPHA:994
HP:0012372	Abnormal eye morphology	4927	NUP88	ORPHA:994
HP:0012372	Abnormal eye morphology	7846	TUBA1A	ORPHA:994
HP:0012372	Abnormal eye morphology	4654	MYOD1	ORPHA:994
HP:0012372	Abnormal eye morphology	54551	MAGEL2	ORPHA:994
HP:0012372	Abnormal eye morphology	4593	MUSK	ORPHA:994
HP:0012372	Abnormal eye morphology	4593	MUSK	OMIM:208150
HP:0012372	Abnormal eye morphology	5913	RAPSN	ORPHA:994
HP:0012372	Abnormal eye morphology	5913	RAPSN	OMIM:618388
HP:0012372	Abnormal eye morphology	6572	SLC18A3	ORPHA:994
HP:0012372	Abnormal eye morphology	285489	DOK7	ORPHA:994
HP:0012372	Abnormal eye morphology	8812	CCNK	OMIM:618147
HP:0012372	Abnormal eye morphology	134218	DNAJC21	OMIM:617052
HP:0012372	Abnormal eye morphology	348180	CTU2	OMIM:618142
HP:0012372	Abnormal eye morphology	3643	INSR	ORPHA:508
HP:0012372	Abnormal eye morphology	5894	RAF1	ORPHA:500
HP:0012372	Abnormal eye morphology	5894	RAF1	ORPHA:648
HP:0012372	Abnormal eye morphology	5894	RAF1	OMIM:611554
HP:0012372	Abnormal eye morphology	5894	RAF1	OMIM:611553
HP:0012372	Abnormal eye morphology	2317	FLNB	ORPHA:503
HP:0012372	Abnormal eye morphology	2317	FLNB	OMIM:272460
HP:0012372	Abnormal eye morphology	2317	FLNB	ORPHA:1190
HP:0012372	Abnormal eye morphology	2317	FLNB	OMIM:108720
HP:0012372	Abnormal eye morphology	2317	FLNB	OMIM:150250
HP:0012372	Abnormal eye morphology	11198	SUPT16H	OMIM:619480
HP:0012372	Abnormal eye morphology	11198	SUPT16H	ORPHA:261229
HP:0012372	Abnormal eye morphology	1457	CSNK2A1	OMIM:617062
HP:0012372	Abnormal eye morphology	7204	TRIO	OMIM:617061
HP:0012372	Abnormal eye morphology	7204	TRIO	OMIM:618825
HP:0012372	Abnormal eye morphology	6872	TAF1	OMIM:300966
HP:0012372	Abnormal eye morphology	9508	ADAMTS3	OMIM:618154
HP:0012372	Abnormal eye morphology	9508	ADAMTS3	ORPHA:2136
HP:0012372	Abnormal eye morphology	1654	DDX3X	OMIM:300958
HP:0012372	Abnormal eye morphology	2799	GNS	OMIM:252940
HP:0012372	Abnormal eye morphology	50964	SOST	OMIM:122860
HP:0012372	Abnormal eye morphology	50964	SOST	OMIM:269500
HP:0012372	Abnormal eye morphology	23387	SIK3	OMIM:618162
HP:0012372	Abnormal eye morphology	80267	EDEM3	OMIM:619493
HP:0012372	Abnormal eye morphology	5745	PTH1R	OMIM:156400
HP:0012372	Abnormal eye morphology	5745	PTH1R	OMIM:600002
HP:0012372	Abnormal eye morphology	84231	TRAF7	OMIM:618164
HP:0012372	Abnormal eye morphology	89970	RSPRY1	ORPHA:457395
HP:0012372	Abnormal eye morphology	89970	RSPRY1	OMIM:616723
HP:0012372	Abnormal eye morphology	51594	NBAS	OMIM:614800
HP:0012372	Abnormal eye morphology	10020	GNE	ORPHA:3166
HP:0012372	Abnormal eye morphology	10020	GNE	OMIM:269921
HP:0012372	Abnormal eye morphology	84081	NSRP1	OMIM:620001
HP:0012372	Abnormal eye morphology	55901	THSD1	OMIM:620244
HP:0012372	Abnormal eye morphology	84842	HPDL	OMIM:619026
HP:0012372	Abnormal eye morphology	5077	PAX3	OMIM:122880
HP:0012372	Abnormal eye morphology	5077	PAX3	ORPHA:1529
HP:0012372	Abnormal eye morphology	5077	PAX3	OMIM:193500
HP:0012372	Abnormal eye morphology	79693	YRDC	ORPHA:2065
HP:0012372	Abnormal eye morphology	51002	TPRKB	ORPHA:2065
HP:0012372	Abnormal eye morphology	51002	TPRKB	OMIM:617731
HP:0012372	Abnormal eye morphology	57122	NUP107	ORPHA:2065
HP:0012372	Abnormal eye morphology	10785	WDR4	ORPHA:2065
HP:0012372	Abnormal eye morphology	55746	NUP133	ORPHA:2065
HP:0012372	Abnormal eye morphology	112858	TP53RK	ORPHA:2065
HP:0012372	Abnormal eye morphology	112858	TP53RK	OMIM:617730
HP:0012372	Abnormal eye morphology	8270	LAGE3	ORPHA:2065
HP:0012372	Abnormal eye morphology	25886	POC1A	OMIM:614813
HP:0012372	Abnormal eye morphology	9898	UBAP2L	OMIM:620494
HP:0012372	Abnormal eye morphology	168667	BMPER	OMIM:608022
HP:0012372	Abnormal eye morphology	2294	FOXF1	OMIM:265380
HP:0012372	Abnormal eye morphology	324	APC	ORPHA:261584
HP:0012372	Abnormal eye morphology	324	APC	ORPHA:3258
HP:0012372	Abnormal eye morphology	894	CCND2	ORPHA:83473
HP:0012372	Abnormal eye morphology	5296	PIK3R2	ORPHA:83473
HP:0012372	Abnormal eye morphology	10000	AKT3	ORPHA:83473
HP:0012372	Abnormal eye morphology	5393	EXOSC9	OMIM:618065
HP:0012372	Abnormal eye morphology	23241	PACS2	OMIM:618067
HP:0012372	Abnormal eye morphology	161742	SPRED1	OMIM:611431
HP:0012372	Abnormal eye morphology	57539	WDR35	OMIM:613610
HP:0012372	Abnormal eye morphology	89910	UBE3B	OMIM:244450
HP:0012372	Abnormal eye morphology	51506	UFC1	OMIM:618076
HP:0012372	Abnormal eye morphology	2314	FLII	ORPHA:819
HP:0012372	Abnormal eye morphology	23096	IQSEC2	ORPHA:819
HP:0012372	Abnormal eye morphology	10743	RAI1	ORPHA:819
HP:0012372	Abnormal eye morphology	10743	RAI1	ORPHA:1713
HP:0012372	Abnormal eye morphology	10522	DEAF1	ORPHA:819
HP:0012372	Abnormal eye morphology	29072	SETD2	OMIM:620157
HP:0012372	Abnormal eye morphology	29072	SETD2	OMIM:620155
HP:0012372	Abnormal eye morphology	55780	ERMARD	ORPHA:75857
HP:0012372	Abnormal eye morphology	9382	COG1	OMIM:611209
HP:0012372	Abnormal eye morphology	9382	COG1	ORPHA:263508
HP:0012372	Abnormal eye morphology	4038	LRP4	ORPHA:3258
HP:0012372	Abnormal eye morphology	4038	LRP4	OMIM:614305
HP:0012372	Abnormal eye morphology	4038	LRP4	OMIM:212780
HP:0012372	Abnormal eye morphology	6197	RPS6KA3	OMIM:303600
HP:0012372	Abnormal eye morphology	6197	RPS6KA3	ORPHA:192
HP:0012372	Abnormal eye morphology	6197	RPS6KA3	ORPHA:276630
HP:0012372	Abnormal eye morphology	1185	CLCN6	OMIM:619173
HP:0012372	Abnormal eye morphology	84992	PIGY	ORPHA:247262
HP:0012372	Abnormal eye morphology	84720	PIGO	ORPHA:247262
HP:0012372	Abnormal eye morphology	84720	PIGO	OMIM:614749
HP:0012372	Abnormal eye morphology	93210	PGAP3	ORPHA:247262
HP:0012372	Abnormal eye morphology	93210	PGAP3	OMIM:615716
HP:0012372	Abnormal eye morphology	284098	PIGW	ORPHA:247262
HP:0012372	Abnormal eye morphology	27315	PGAP2	ORPHA:247262
HP:0012372	Abnormal eye morphology	27315	PGAP2	OMIM:614207
HP:0012372	Abnormal eye morphology	4001	LMNB1	OMIM:619179
HP:0012372	Abnormal eye morphology	64324	NSD1	OMIM:117550
HP:0012372	Abnormal eye morphology	64324	NSD1	ORPHA:3447
HP:0012372	Abnormal eye morphology	8913	CACNA1G	OMIM:618087
HP:0012372	Abnormal eye morphology	80204	FBXO11	OMIM:618089
HP:0012372	Abnormal eye morphology	1272	CNTN1	OMIM:612540
HP:0012372	Abnormal eye morphology	1801	DPH1	OMIM:616901
HP:0012372	Abnormal eye morphology	1801	DPH1	ORPHA:459061
HP:0012372	Abnormal eye morphology	93627	TBCK	OMIM:616900
HP:0012372	Abnormal eye morphology	546	ATRX	ORPHA:847
HP:0012372	Abnormal eye morphology	546	ATRX	OMIM:309580
HP:0012372	Abnormal eye morphology	546	ATRX	OMIM:301040
HP:0012372	Abnormal eye morphology	57531	HACE1	ORPHA:464282
HP:0012372	Abnormal eye morphology	6999	TDO2	OMIM:600627
HP:0012372	Abnormal eye morphology	23036	ZNF292	OMIM:619188
HP:0012372	Abnormal eye morphology	55148	UBR7	OMIM:619189
HP:0012372	Abnormal eye morphology	3070	HELLS	OMIM:616911
HP:0012372	Abnormal eye morphology	3070	HELLS	ORPHA:2268
HP:0012372	Abnormal eye morphology	83879	CDCA7	OMIM:616910
HP:0012372	Abnormal eye morphology	83879	CDCA7	ORPHA:2268
HP:0012372	Abnormal eye morphology	79053	ALG8	OMIM:608104
HP:0012372	Abnormal eye morphology	79053	ALG8	ORPHA:79325
HP:0012372	Abnormal eye morphology	526	ATP6V1B2	ORPHA:3473
HP:0012372	Abnormal eye morphology	526	ATP6V1B2	ORPHA:79500
HP:0012372	Abnormal eye morphology	3756	KCNH1	ORPHA:3473
HP:0012372	Abnormal eye morphology	3756	KCNH1	OMIM:611816
HP:0012372	Abnormal eye morphology	3756	KCNH1	ORPHA:420561
HP:0012372	Abnormal eye morphology	3782	KCNN3	ORPHA:3473
HP:0012372	Abnormal eye morphology	3425	IDUA	OMIM:607014
HP:0012372	Abnormal eye morphology	175	AGA	ORPHA:93
HP:0012372	Abnormal eye morphology	3192	HNRNPU	ORPHA:238769
HP:0012372	Abnormal eye morphology	9653	HS2ST1	OMIM:619194
HP:0012372	Abnormal eye morphology	5447	POR	OMIM:201750
HP:0012372	Abnormal eye morphology	57217	TTC7A	OMIM:243150
HP:0012372	Abnormal eye morphology	64327	LMBR1	ORPHA:2378
HP:0012372	Abnormal eye morphology	147372	CCBE1	ORPHA:2136
HP:0012372	Abnormal eye morphology	147372	CCBE1	OMIM:235510
HP:0012372	Abnormal eye morphology	26053	AUTS2	OMIM:615834
HP:0012372	Abnormal eye morphology	26053	AUTS2	ORPHA:352490
HP:0012372	Abnormal eye morphology	54499	TMCO1	OMIM:213980
HP:0012372	Abnormal eye morphology	54499	TMCO1	ORPHA:1394
HP:0012372	Abnormal eye morphology	3675	ITGA3	OMIM:614748
HP:0012372	Abnormal eye morphology	10907	TXNL4A	OMIM:608572
HP:0012372	Abnormal eye morphology	10907	TXNL4A	ORPHA:1200
HP:0012372	Abnormal eye morphology	8050	PDHX	OMIM:245349
HP:0012372	Abnormal eye morphology	23522	KAT6B	ORPHA:85201
HP:0012372	Abnormal eye morphology	23261	CAMTA1	OMIM:614756
HP:0012372	Abnormal eye morphology	10472	ZBTB18	OMIM:612337
HP:0012372	Abnormal eye morphology	10472	ZBTB18	ORPHA:36367
HP:0012372	Abnormal eye morphology	1482	NKX2-5	OMIM:217095
HP:0012372	Abnormal eye morphology	137814	NKX2-6	OMIM:217095
HP:0012372	Abnormal eye morphology	2627	GATA6	OMIM:217095
HP:0012372	Abnormal eye morphology	55343	SLC35C1	ORPHA:99843
HP:0012372	Abnormal eye morphology	8813	DPM1	OMIM:608799
HP:0012372	Abnormal eye morphology	8813	DPM1	ORPHA:79322
HP:0012372	Abnormal eye morphology	9652	SKIC3	OMIM:222470
HP:0012372	Abnormal eye morphology	9652	SKIC3	ORPHA:84064
HP:0012372	Abnormal eye morphology	27086	FOXP1	OMIM:613670
HP:0012372	Abnormal eye morphology	27086	FOXP1	ORPHA:391372
HP:0012372	Abnormal eye morphology	6611	SMS	OMIM:309583
HP:0012372	Abnormal eye morphology	6611	SMS	ORPHA:3063
HP:0012372	Abnormal eye morphology	2146	EZH2	OMIM:277590
HP:0012372	Abnormal eye morphology	2146	EZH2	ORPHA:3447
HP:0012372	Abnormal eye morphology	6509	SLC1A4	ORPHA:447997
HP:0012372	Abnormal eye morphology	55023	PHIP	ORPHA:589905
HP:0012372	Abnormal eye morphology	55023	PHIP	OMIM:617991
HP:0012372	Abnormal eye morphology	29123	ANKRD11	OMIM:148050
HP:0012372	Abnormal eye morphology	29123	ANKRD11	ORPHA:2332
HP:0012372	Abnormal eye morphology	4208	MEF2C	OMIM:613443
HP:0012372	Abnormal eye morphology	7319	UBE2A	ORPHA:163956
HP:0012372	Abnormal eye morphology	7319	UBE2A	OMIM:300860
HP:0012372	Abnormal eye morphology	57724	EPG5	ORPHA:1493
HP:0012372	Abnormal eye morphology	57724	EPG5	OMIM:242840
HP:0012372	Abnormal eye morphology	56052	ALG1	OMIM:608540
HP:0012372	Abnormal eye morphology	10075	HUWE1	OMIM:309590
HP:0012372	Abnormal eye morphology	2245	FGD1	OMIM:305400
HP:0012372	Abnormal eye morphology	2245	FGD1	ORPHA:915
HP:0012372	Abnormal eye morphology	132	ADK	OMIM:614300
HP:0012372	Abnormal eye morphology	2733	GLE1	ORPHA:1486
HP:0012372	Abnormal eye morphology	11133	KPTN	OMIM:615637
HP:0012372	Abnormal eye morphology	79796	ALG9	OMIM:608776
HP:0012372	Abnormal eye morphology	79796	ALG9	ORPHA:79328
HP:0012372	Abnormal eye morphology	79796	ALG9	OMIM:263210
HP:0012372	Abnormal eye morphology	79650	USB1	OMIM:604173
HP:0012372	Abnormal eye morphology	55593	OTUD5	OMIM:301056
HP:0012372	Abnormal eye morphology	84162	BLTP1	OMIM:617822
HP:0012372	Abnormal eye morphology	998	CDC42	OMIM:616737
HP:0012372	Abnormal eye morphology	998	CDC42	ORPHA:487796
HP:0012372	Abnormal eye morphology	117581	TWIST2	ORPHA:1231
HP:0012372	Abnormal eye morphology	117581	TWIST2	OMIM:209885
HP:0012372	Abnormal eye morphology	117581	TWIST2	OMIM:200110
HP:0012372	Abnormal eye morphology	3097	HIVEP2	OMIM:616977
HP:0012372	Abnormal eye morphology	23097	CDK19	OMIM:618916
HP:0012372	Abnormal eye morphology	7547	ZIC3	OMIM:306955
HP:0012372	Abnormal eye morphology	63035	BCORL1	OMIM:301029
HP:0012372	Abnormal eye morphology	57211	ADGRG6	OMIM:616503
HP:0012372	Abnormal eye morphology	3759	KCNJ2	OMIM:170390
HP:0012372	Abnormal eye morphology	3759	KCNJ2	ORPHA:37553
HP:0012372	Abnormal eye morphology	1000	CDH2	OMIM:618929
HP:0012372	Abnormal eye morphology	83696	TRAPPC9	ORPHA:352530
HP:0012372	Abnormal eye morphology	83696	TRAPPC9	OMIM:613192
HP:0012372	Abnormal eye morphology	860	RUNX2	ORPHA:1452
HP:0012372	Abnormal eye morphology	860	RUNX2	OMIM:119600
HP:0012372	Abnormal eye morphology	6638	SNRPN	ORPHA:177907
HP:0012372	Abnormal eye morphology	10367	MICU1	OMIM:615673
HP:0012372	Abnormal eye morphology	2517	FUCA1	OMIM:230000
HP:0012372	Abnormal eye morphology	25885	POLR1A	ORPHA:1200
HP:0012372	Abnormal eye morphology	25885	POLR1A	OMIM:616462
HP:0012372	Abnormal eye morphology	80232	WDR26	OMIM:617616
HP:0012372	Abnormal eye morphology	55617	TASP1	OMIM:618950
HP:0012372	Abnormal eye morphology	112752	IFT43	OMIM:617866
HP:0012372	Abnormal eye morphology	92335	STRADA	OMIM:611087
HP:0012372	Abnormal eye morphology	139285	AMER1	OMIM:300373
HP:0012372	Abnormal eye morphology	5331	PLCB3	OMIM:618961
HP:0012372	Abnormal eye morphology	1748	DLX4	OMIM:616788
HP:0012372	Abnormal eye morphology	4000	LMNA	ORPHA:1662
HP:0012372	Abnormal eye morphology	10269	ZMPSTE24	ORPHA:1662
HP:0012372	Abnormal eye morphology	10269	ZMPSTE24	OMIM:275210
HP:0012372	Abnormal eye morphology	4621	MYH3	ORPHA:2990
HP:0012372	Abnormal eye morphology	4621	MYH3	OMIM:193700
HP:0012372	Abnormal eye morphology	4621	MYH3	ORPHA:2053
HP:0012372	Abnormal eye morphology	1146	CHRNG	ORPHA:2990
HP:0012372	Abnormal eye morphology	1146	CHRNG	OMIM:265000
HP:0012372	Abnormal eye morphology	1146	CHRNG	OMIM:253290
HP:0012372	Abnormal eye morphology	3778	KCNMA1	OMIM:618729
HP:0012372	Abnormal eye morphology	317662	FAM149B1	ORPHA:2754
HP:0012372	Abnormal eye morphology	11141	IL1RAPL1	OMIM:300143
HP:0012372	Abnormal eye morphology	55553	SOX6	OMIM:618971
HP:0012372	Abnormal eye morphology	57647	DHX37	OMIM:618731
HP:0012372	Abnormal eye morphology	10736	SIX2	ORPHA:488437
HP:0012372	Abnormal eye morphology	4281	MID1	ORPHA:2745
HP:0012372	Abnormal eye morphology	4281	MID1	OMIM:300000
HP:0012372	Abnormal eye morphology	529	ATP6V1E1	OMIM:617402
HP:0012372	Abnormal eye morphology	529	ATP6V1E1	ORPHA:357074
HP:0012372	Abnormal eye morphology	6655	SOS2	OMIM:616559
HP:0012372	Abnormal eye morphology	6655	SOS2	ORPHA:648
HP:0012372	Abnormal eye morphology	6929	TCF3	OMIM:619824
HP:0012372	Abnormal eye morphology	6929	TCF3	ORPHA:33110
HP:0012372	Abnormal eye morphology	3762	KCNJ5	ORPHA:37553
HP:0012372	Abnormal eye morphology	11253	MAN1B1	ORPHA:397941
HP:0012372	Abnormal eye morphology	11253	MAN1B1	OMIM:614202
HP:0012372	Abnormal eye morphology	10617	STAMBP	OMIM:614261
HP:0012372	Abnormal eye morphology	8294	H4C9	OMIM:619951
HP:0012372	Abnormal eye morphology	50651	SLC45A1	OMIM:617532
HP:0012372	Abnormal eye morphology	9853	RUSC2	OMIM:617773
HP:0012372	Abnormal eye morphology	56172	ANKH	ORPHA:1522
HP:0012372	Abnormal eye morphology	56172	ANKH	OMIM:123000
HP:0012372	Abnormal eye morphology	8425	LTBP4	OMIM:613177
HP:0012372	Abnormal eye morphology	6016	RIT1	OMIM:615355
HP:0012372	Abnormal eye morphology	6016	RIT1	ORPHA:648
HP:0012372	Abnormal eye morphology	1947	EFNB1	ORPHA:1520
HP:0012372	Abnormal eye morphology	1947	EFNB1	OMIM:304110
HP:0012372	Abnormal eye morphology	10973	ASCC3	OMIM:620700
HP:0012372	Abnormal eye morphology	5830	PEX5	OMIM:214110
HP:0012372	Abnormal eye morphology	65267	WNK3	OMIM:309610
HP:0012372	Abnormal eye morphology	3020	H3-3A	OMIM:619720
HP:0012372	Abnormal eye morphology	220296	HEPACAM	ORPHA:210548
HP:0012372	Abnormal eye morphology	5189	PEX1	OMIM:214100
HP:0012372	Abnormal eye morphology	999	CDH1	ORPHA:1997
HP:0012372	Abnormal eye morphology	999	CDH1	OMIM:119580
HP:0012372	Abnormal eye morphology	2590	GALNT2	OMIM:618885
HP:0012372	Abnormal eye morphology	55870	ASH1L	OMIM:617796
HP:0012372	Abnormal eye morphology	9698	PUM1	OMIM:620719
HP:0012372	Abnormal eye morphology	83871	RAB34	OMIM:620718
HP:0012372	Abnormal eye morphology	9692	PRORP	OMIM:619737
HP:0012372	Abnormal eye morphology	51319	RSRC1	OMIM:618402
HP:0012372	Abnormal eye morphology	79184	BRCC3	ORPHA:280679
HP:0012372	Abnormal eye morphology	8726	EED	OMIM:617561
HP:0012372	Abnormal eye morphology	283987	HID1	OMIM:619983
HP:0012372	Abnormal eye morphology	1656	DDX6	OMIM:618653
HP:0012372	Abnormal eye morphology	1501	CTNND2	ORPHA:281
HP:0012372	Abnormal eye morphology	9037	SEMA5A	ORPHA:281
HP:0012372	Abnormal eye morphology	200734	SPRED2	OMIM:619745
HP:0012372	Abnormal eye morphology	200734	SPRED2	ORPHA:648
HP:0012372	Abnormal eye morphology	55623	THUMPD1	OMIM:619989
HP:0012372	Abnormal eye morphology	8241	RBM10	OMIM:311900
HP:0012372	Abnormal eye morphology	8241	RBM10	ORPHA:2886
HP:0012372	Abnormal eye morphology	253738	EBF3	OMIM:617330
HP:0012372	Abnormal eye morphology	1182	CLCN3	OMIM:619512
HP:0012372	Abnormal eye morphology	85301	COL27A1	OMIM:615155
HP:0012372	Abnormal eye morphology	11154	AP4S1	OMIM:614067
HP:0012372	Abnormal eye morphology	7862	BRPF1	OMIM:617333
HP:0012372	Abnormal eye morphology	3572	IL6ST	OMIM:619750
HP:0012372	Abnormal eye morphology	8363	H4C11	OMIM:619759
HP:0012372	Abnormal eye morphology	4613	MYCN	OMIM:620748
HP:0012372	Abnormal eye morphology	5048	PAFAH1B1	ORPHA:217385
HP:0012372	Abnormal eye morphology	7531	YWHAE	ORPHA:217385
HP:0012372	Abnormal eye morphology	9681	DEPDC5	OMIM:620504
HP:0012372	Abnormal eye morphology	1660	DHX9	OMIM:620988
HP:0012372	Abnormal eye morphology	9841	ZBTB24	OMIM:614069
HP:0012372	Abnormal eye morphology	9841	ZBTB24	ORPHA:2268
HP:0012372	Abnormal eye morphology	8364	H4C3	OMIM:619758
HP:0012372	Abnormal eye morphology	93986	FOXP2	ORPHA:251061
HP:0012372	Abnormal eye morphology	4247	MGAT2	ORPHA:79329
HP:0012372	Abnormal eye morphology	26137	ZBTB20	OMIM:259050
HP:0012372	Abnormal eye morphology	7750	ZMYM2	OMIM:619522
HP:0012372	Abnormal eye morphology	8733	GPAA1	ORPHA:529665
HP:0012372	Abnormal eye morphology	4849	CNOT3	OMIM:618672
HP:0012372	Abnormal eye morphology	2542	SLC37A4	OMIM:619525
HP:0012372	Abnormal eye morphology	25973	PARS2	OMIM:618437
HP:0012372	Abnormal eye morphology	57492	ARID1B	ORPHA:251056
HP:0012372	Abnormal eye morphology	57492	ARID1B	OMIM:135900
HP:0012372	Abnormal eye morphology	51163	DBR1	OMIM:620510
HP:0012372	Abnormal eye morphology	2683	B4GALT1	ORPHA:79332
HP:0012372	Abnormal eye morphology	5354	PLP1	ORPHA:280229
HP:0012372	Abnormal eye morphology	2271	FH	OMIM:606812
HP:0012372	Abnormal eye morphology	5373	PMM2	ORPHA:79318
HP:0012372	Abnormal eye morphology	7030	TFE3	OMIM:301066
HP:0012372	Abnormal eye morphology	51651	PTRH2	OMIM:616263
HP:0012372	Abnormal eye morphology	51651	PTRH2	ORPHA:456312
HP:0012372	Abnormal eye morphology	23162	MAPK8IP3	OMIM:618443
HP:0012372	Abnormal eye morphology	1107	CHD3	OMIM:618205
HP:0012372	Abnormal eye morphology	6261	RYR1	ORPHA:324581
HP:0012372	Abnormal eye morphology	6261	RYR1	OMIM:619542
HP:0012372	Abnormal eye morphology	833	CARS1	ORPHA:33364
HP:0012372	Abnormal eye morphology	7737	RNF113A	ORPHA:33364
HP:0012372	Abnormal eye morphology	6897	TARS1	ORPHA:33364
HP:0012372	Abnormal eye morphology	16	AARS1	ORPHA:33364
HP:0012372	Abnormal eye morphology	2961	GTF2E2	ORPHA:33364
HP:0012372	Abnormal eye morphology	29929	ALG6	ORPHA:79320
HP:0012372	Abnormal eye morphology	8621	CDK13	OMIM:617360
HP:0012372	Abnormal eye morphology	29968	PSAT1	OMIM:616038
HP:0012372	Abnormal eye morphology	29968	PSAT1	ORPHA:284417
HP:0012372	Abnormal eye morphology	164	AP1G1	OMIM:619548
HP:0012372	Abnormal eye morphology	55770	EXOC2	OMIM:619306
HP:0012372	Abnormal eye morphology	27145	FILIP1	OMIM:620775
HP:0012372	Abnormal eye morphology	6654	SOS1	OMIM:610733
HP:0012372	Abnormal eye morphology	6654	SOS1	ORPHA:648
HP:0012372	Abnormal eye morphology	140679	SLC32A1	OMIM:620774
HP:0012372	Abnormal eye morphology	1802	DPH2	ORPHA:459061
HP:0012372	Abnormal eye morphology	7922	SLC39A7	ORPHA:33110
HP:0012372	Abnormal eye morphology	973	CD79A	ORPHA:33110
HP:0012372	Abnormal eye morphology	974	CD79B	ORPHA:33110
HP:0012372	Abnormal eye morphology	6688	SPI1	ORPHA:33110
HP:0012372	Abnormal eye morphology	3543	IGLL1	ORPHA:33110
HP:0012372	Abnormal eye morphology	3507	IGHM	ORPHA:33110
HP:0012372	Abnormal eye morphology	29760	BLNK	ORPHA:33110
HP:0012372	Abnormal eye morphology	56262	LRRC8A	ORPHA:33110
HP:0012372	Abnormal eye morphology	56262	LRRC8A	OMIM:613506
HP:0012372	Abnormal eye morphology	81848	SPRY4	ORPHA:432
HP:0012372	Abnormal eye morphology	128674	PROKR2	ORPHA:432
HP:0012372	Abnormal eye morphology	60675	PROK2	ORPHA:432
HP:0012372	Abnormal eye morphology	6870	TACR3	ORPHA:432
HP:0012372	Abnormal eye morphology	1848	DUSP6	ORPHA:432
HP:0012372	Abnormal eye morphology	26012	NSMF	ORPHA:432
HP:0012372	Abnormal eye morphology	55717	WDR11	ORPHA:432
HP:0012372	Abnormal eye morphology	4808	NHLH2	ORPHA:432
HP:0012372	Abnormal eye morphology	9394	HS6ST1	ORPHA:432
HP:0012372	Abnormal eye morphology	2796	GNRH1	ORPHA:432
HP:0012372	Abnormal eye morphology	2798	GNRHR	ORPHA:432
HP:0012372	Abnormal eye morphology	84634	KISS1R	ORPHA:432
HP:0012372	Abnormal eye morphology	6866	TAC3	ORPHA:432
HP:0012372	Abnormal eye morphology	8822	FGF17	ORPHA:432
HP:0012372	Abnormal eye morphology	3814	KISS1	ORPHA:432
HP:0012372	Abnormal eye morphology	6909	TBX2	OMIM:618223
HP:0012372	Abnormal eye morphology	23013	SPEN	OMIM:619312
HP:0012372	Abnormal eye morphology	9759	HDAC4	OMIM:619797
HP:0012372	Abnormal eye morphology	6477	SIAH1	OMIM:619314
HP:0012372	Abnormal eye morphology	83548	COG3	OMIM:620546
HP:0012372	Abnormal eye morphology	100151683	RNU4ATAC	ORPHA:353298
HP:0012372	Abnormal eye morphology	170689	ADAMTS15	OMIM:620545
HP:0012372	Abnormal eye morphology	4076	CAPRIN1	OMIM:620782
HP:0012372	Abnormal eye morphology	51412	ACTL6B	OMIM:618470
HP:0012372	Abnormal eye morphology	5631	PRPS1	ORPHA:423479
HP:0012372	Abnormal eye morphology	650	BMP2	ORPHA:261295
HP:0012372	Abnormal eye morphology	29998	BICRA	OMIM:619325
HP:0012372	Abnormal eye morphology	9342	SNAP29	ORPHA:66631
HP:0012372	Abnormal eye morphology	9342	SNAP29	OMIM:609528
HP:0012372	Abnormal eye morphology	8312	AXIN1	OMIM:620558
HP:0012372	Abnormal eye morphology	2710	GK	OMIM:307030
HP:0012372	Abnormal eye morphology	6904	TBCD	ORPHA:496641
HP:0012372	Abnormal eye morphology	6904	TBCD	OMIM:617193
HP:0012372	Abnormal eye morphology	83999	KREMEN1	OMIM:617392
HP:0012372	Abnormal eye morphology	57551	TAOK1	OMIM:619575
HP:0012372	Abnormal eye morphology	50619	DEF6	OMIM:619573
HP:0012372	Abnormal eye morphology	1108	CHD4	OMIM:617159
HP:0012372	Abnormal eye morphology	29920	PYCR2	ORPHA:481152
HP:0012372	Abnormal eye morphology	9969	MED13	OMIM:618009
HP:0012372	Abnormal eye morphology	92344	GORAB	OMIM:231070
HP:0012372	Abnormal eye morphology	4141	MARS1	OMIM:620323
HP:0012372	Abnormal eye morphology	8604	SLC25A12	OMIM:612949
HP:0012372	Abnormal eye morphology	80324	PUS1	OMIM:600462
HP:0012372	Abnormal eye morphology	8091	HMGA2	ORPHA:94063
HP:0012372	Abnormal eye morphology	23592	LEMD3	ORPHA:94063
HP:0012372	Abnormal eye morphology	22808	MRAS	OMIM:618499
HP:0012372	Abnormal eye morphology	22808	MRAS	ORPHA:648
HP:0012372	Abnormal eye morphology	9451	EIF2AK3	OMIM:226980
HP:0012372	Abnormal eye morphology	5277	PIGA	OMIM:300868
HP:0012372	Abnormal eye morphology	5144	PDE4D	ORPHA:439822
HP:0012372	Abnormal eye morphology	5144	PDE4D	ORPHA:950
HP:0012372	Abnormal eye morphology	2475	MTOR	ORPHA:457485
HP:0012372	Abnormal eye morphology	2475	MTOR	OMIM:616638
HP:0012372	Abnormal eye morphology	57187	THOC2	ORPHA:457240
HP:0012372	Abnormal eye morphology	9791	PTDSS1	OMIM:151050
HP:0012372	Abnormal eye morphology	9791	PTDSS1	ORPHA:2658
HP:0012372	Abnormal eye morphology	10771	ZMYND11	OMIM:616083
HP:0012372	Abnormal eye morphology	57003	CCDC47	OMIM:618268
HP:0012372	Abnormal eye morphology	5977	DPF2	OMIM:618027
HP:0012372	Abnormal eye morphology	79005	SCNM1	OMIM:620107
HP:0012372	Abnormal eye morphology	285590	SH3PXD2B	ORPHA:137834
HP:0012372	Abnormal eye morphology	285590	SH3PXD2B	OMIM:249420
HP:0012372	Abnormal eye morphology	4796	TONSL	OMIM:271510
HP:0012372	Abnormal eye morphology	57465	TBC1D24	ORPHA:79500
HP:0012372	Abnormal eye morphology	57465	TBC1D24	OMIM:220500
HP:0012372	Abnormal eye morphology	23405	DICER1	OMIM:618272
HP:0012372	Abnormal eye morphology	2571	GAD1	OMIM:619124
HP:0012372	Abnormal eye morphology	90416	CCDC32	OMIM:619123
HP:0012372	Abnormal eye morphology	118924	FRA10AC1	OMIM:620113
HP:0012372	Abnormal eye morphology	55252	ASXL2	OMIM:617190
HP:0012372	Abnormal eye morphology	23154	NCDN	OMIM:619373
HP:0012372	Abnormal eye morphology	1984	EIF5A	OMIM:619376
HP:0012372	Abnormal eye morphology	55835	CPAP	OMIM:608393
HP:0012372	Abnormal eye morphology	3295	HSD17B4	OMIM:261515
HP:0012372	Abnormal eye morphology	22800	RRAS2	ORPHA:648
HP:0012372	Abnormal eye morphology	867	CBL	ORPHA:648
HP:0012372	Abnormal eye morphology	867	CBL	OMIM:613563
HP:0012372	Abnormal eye morphology	6237	RRAS	ORPHA:648
HP:0012372	Abnormal eye morphology	5922	RASA2	ORPHA:648
HP:0012372	Abnormal eye morphology	11011	TLK2	OMIM:618050
HP:0012372	Abnormal eye morphology	5567	PRKACB	OMIM:619143
HP:0012372	Abnormal eye morphology	221692	PHACTR1	OMIM:618298
HP:0012372	Abnormal eye morphology	6499	SKIC2	ORPHA:84064
HP:0012372	Abnormal eye morphology	6499	SKIC2	OMIM:614602
HP:0012372	Abnormal eye morphology	5605	MAP2K2	ORPHA:638
HP:0012372	Abnormal eye morphology	5605	MAP2K2	ORPHA:1340
HP:0012372	Abnormal eye morphology	4067	LYN	OMIM:620376
HP:0012372	Abnormal eye morphology	11113	CIT	OMIM:617090
HP:0012372	Abnormal eye morphology	10128	LRPPRC	OMIM:220111
HP:0012372	Abnormal eye morphology	58499	ZNF462	ORPHA:502430
HP:0012372	Abnormal eye morphology	9131	AIFM1	OMIM:300232
HP:0012372	Abnormal eye morphology	259232	NALCN	ORPHA:2053
HP:0012372	Abnormal eye morphology	259232	NALCN	ORPHA:562528
HP:0012372	Abnormal eye morphology	95	ACY1	ORPHA:137754
HP:0012372	Abnormal eye morphology	95	ACY1	OMIM:609924
HP:0012372	Abnormal eye morphology	118987	PDZD8	OMIM:620021
HP:0012372	Abnormal eye morphology	2629	GBA1	OMIM:608013
HP:0012372	Abnormal eye morphology	58	ACTA1	ORPHA:171433
HP:0012372	Abnormal eye morphology	58	ACTA1	ORPHA:171439
HP:0012372	Abnormal eye morphology	10324	KLHL41	ORPHA:171433
HP:0012372	Abnormal eye morphology	10324	KLHL41	ORPHA:171439
HP:0012372	Abnormal eye morphology	7170	TPM3	ORPHA:171433
HP:0012372	Abnormal eye morphology	7170	TPM3	ORPHA:171439
HP:0012372	Abnormal eye morphology	6595	SMARCA2	OMIM:619293
HP:0012372	Abnormal eye morphology	3899	AFF3	OMIM:619297
HP:0012372	Abnormal eye morphology	9739	SETD1A	OMIM:619056
HP:0012372	Abnormal eye morphology	29128	UHRF1	ORPHA:2268
HP:0012372	Abnormal eye morphology	10352	WARS2	ORPHA:572798
HP:0012372	Abnormal eye morphology	4338	MOCS2	OMIM:252160
HP:0012372	Abnormal eye morphology	1302	COL11A2	ORPHA:2021
HP:0012372	Abnormal eye morphology	657	BMPR1A	ORPHA:79076
HP:0012372	Abnormal eye morphology	5826	ABCD4	OMIM:614857
HP:0012372	Abnormal eye morphology	4953	ODC1	OMIM:619075
HP:0012372	Abnormal eye morphology	4953	ODC1	ORPHA:544488
HP:0012372	Abnormal eye morphology	5190	PEX6	OMIM:614862
HP:0012372	Abnormal eye morphology	5190	PEX6	OMIM:614863
HP:0012372	Abnormal eye morphology	5828	PEX2	OMIM:614866
HP:0012372	Abnormal eye morphology	81031	SLC2A10	ORPHA:3342
HP:0012372	Abnormal eye morphology	81031	SLC2A10	OMIM:208050
HP:0012372	Abnormal eye morphology	6774	STAT3	OMIM:147060
HP:0012372	Abnormal eye morphology	5594	MAPK1	OMIM:619087
HP:0012372	Abnormal eye morphology	5832	ALDH18A1	OMIM:219150
HP:0012372	Abnormal eye morphology	10430	TMEM147	OMIM:620075
HP:0012372	Abnormal eye morphology	4677	NARS1	OMIM:619092
HP:0012372	Abnormal eye morphology	26047	CNTNAP2	OMIM:610042
HP:0012372	Abnormal eye morphology	26047	CNTNAP2	ORPHA:163681
HP:0012372	Abnormal eye morphology	8504	PEX3	OMIM:614882
HP:0012372	Abnormal eye morphology	84665	MYPN	ORPHA:171439
HP:0012372	Abnormal eye morphology	7169	TPM2	ORPHA:171439
HP:0012372	Abnormal eye morphology	390594	KBTBD13	ORPHA:171439
HP:0012372	Abnormal eye morphology	55681	SCYL2	ORPHA:1143
HP:0012372	Abnormal eye morphology	84570	COL25A1	ORPHA:1143
HP:0012372	Abnormal eye morphology	57222	ERGIC1	ORPHA:1143
HP:0012372	Abnormal eye morphology	79791	FBXO31	OMIM:615979
HP:0012372	Abnormal eye morphology	1134	CHRNA1	OMIM:253290
HP:0012372	Abnormal eye morphology	1144	CHRND	OMIM:253290
HP:0012372	Abnormal eye morphology	6497	SKI	ORPHA:2462
HP:0012372	Abnormal eye morphology	6497	SKI	OMIM:182212
HP:0012372	Abnormal eye morphology	90417	KNSTRN	OMIM:613328
HP:0012372	Abnormal eye morphology	90417	KNSTRN	ORPHA:221139
HP:0012372	Abnormal eye morphology	5293	PIK3CD	OMIM:613328
HP:0012372	Abnormal eye morphology	5293	PIK3CD	ORPHA:221139
HP:0012372	Abnormal eye morphology	6938	TCF12	ORPHA:35099
HP:0012372	Abnormal eye morphology	7545	ZIC1	ORPHA:35099
HP:0012372	Abnormal eye morphology	7545	ZIC1	OMIM:616602
HP:0012372	Abnormal eye morphology	579	NKX3-2	OMIM:613330
HP:0012372	Abnormal eye morphology	51621	KLF13	OMIM:612001
HP:0012372	Abnormal eye morphology	1139	CHRNA7	OMIM:612001
HP:0012372	Abnormal eye morphology	85358	SHANK3	OMIM:606232
HP:0012372	Abnormal eye morphology	113179	ADAT3	ORPHA:363528
HP:0012372	Abnormal eye morphology	55784	MCTP2	ORPHA:1596
HP:0012372	Abnormal eye morphology	30008	EFEMP2	OMIM:614437
HP:0012372	Abnormal eye morphology	4750	NEK1	OMIM:252100
HP:0012372	Abnormal eye morphology	10265	IRX5	OMIM:611174
HP:0012372	Abnormal eye morphology	5530	PPP3CA	OMIM:617711
HP:0012372	Abnormal eye morphology	5604	MAP2K1	ORPHA:1340
HP:0012372	Abnormal eye morphology	5604	MAP2K1	OMIM:163950
HP:0012372	Abnormal eye morphology	9325	TRIP4	OMIM:616866
HP:0012372	Abnormal eye morphology	5718	PSMD12	ORPHA:529962
HP:0012372	Abnormal eye morphology	5718	PSMD12	OMIM:617516
HP:0012372	Abnormal eye morphology	2186	BPTF	ORPHA:529962
HP:0012372	Abnormal eye morphology	2186	BPTF	OMIM:617755
HP:0012372	Abnormal eye morphology	84342	COG8	OMIM:611182
HP:0012372	Abnormal eye morphology	7067	THRA	OMIM:614450
HP:0012372	Abnormal eye morphology	23065	EMC1	OMIM:616875
HP:0012372	Abnormal eye morphology	59336	PRDM13	OMIM:619909
HP:0012372	Abnormal eye morphology	4337	MOCS1	OMIM:252150
HP:0012372	Abnormal eye morphology	4659	PPP1R12A	OMIM:618820
HP:0012372	Abnormal eye morphology	54796	BNC2	ORPHA:93110
HP:0012372	Abnormal eye morphology	8405	SPOP	OMIM:618829
HP:0012372	Abnormal eye morphology	54870	QRICH1	OMIM:617982
HP:0012372	Abnormal eye morphology	83737	ITCH	OMIM:613385
HP:0012372	Abnormal eye morphology	202018	TAPT1	OMIM:616897
HP:0012372	Abnormal eye morphology	4841	NONO	ORPHA:466791
HP:0012372	Abnormal eye morphology	9320	TRIP12	OMIM:617752
HP:0012372	Abnormal eye morphology	440	ASNS	OMIM:615574
HP:0012372	Abnormal eye morphology	738	VPS51	OMIM:618606
HP:0012372	Abnormal eye morphology	10312	TCIRG1	ORPHA:1782
HP:0012372	Abnormal eye morphology	8792	TNFRSF11A	ORPHA:1782
HP:0012372	Abnormal eye morphology	5430	POLR2A	OMIM:618603
HP:0012372	Abnormal eye morphology	5307	PITX1	OMIM:119800
HP:0012372	Abnormal eye morphology	92935	MARS2	OMIM:616430
HP:0012372	Abnormal eye morphology	7543	ZFX	OMIM:301118
HP:0012372	Abnormal eye morphology	2036	EPB41L1	OMIM:614257
HP:0012372	Abnormal eye morphology	9990	SLC12A6	OMIM:218000
HP:0012372	Abnormal eye morphology	85300	ATCAY	OMIM:601238
HP:0012372	Abnormal eye morphology	85300	ATCAY	ORPHA:94122
HP:0012372	Abnormal eye morphology	611	OPN1SW	ORPHA:88629
HP:0012372	Abnormal eye morphology	7084	TK2	ORPHA:254886
HP:0012372	Abnormal eye morphology	4123	MAN2C1	OMIM:619775
HP:0012372	Abnormal eye morphology	145173	B3GLCT	OMIM:261540
HP:0012372	Abnormal eye morphology	26005	C2CD3	ORPHA:434179
HP:0012372	Abnormal eye morphology	26005	C2CD3	OMIM:615948
HP:0012372	Abnormal eye morphology	9487	PIGL	OMIM:280000
HP:0012372	Abnormal eye morphology	9487	PIGL	ORPHA:3474
HP:0012372	Abnormal eye morphology	8573	CASK	OMIM:300749
HP:0012372	Abnormal eye morphology	80184	CEP290	OMIM:610188
HP:0012372	Abnormal eye morphology	2248	FGF3	ORPHA:2791
HP:0012372	Abnormal eye morphology	22930	RAB3GAP1	ORPHA:2510
HP:0012372	Abnormal eye morphology	25782	RAB3GAP2	ORPHA:2510
HP:0012372	Abnormal eye morphology	22931	RAB18	ORPHA:2510
HP:0012372	Abnormal eye morphology	128637	TBC1D20	ORPHA:2510
HP:0012372	Abnormal eye morphology	5076	PAX2	OMIM:120330
HP:0012372	Abnormal eye morphology	5076	PAX2	ORPHA:1475
HP:0012372	Abnormal eye morphology	26173	INTS1	OMIM:618571
HP:0012372	Abnormal eye morphology	54806	AHI1	ORPHA:220493
HP:0012372	Abnormal eye morphology	56623	INPP5E	ORPHA:220493
HP:0012372	Abnormal eye morphology	153241	CEP120	ORPHA:220493
HP:0012372	Abnormal eye morphology	54903	MKS1	ORPHA:220493
HP:0012372	Abnormal eye morphology	5908	RAP1B	OMIM:620654
HP:0012372	Abnormal eye morphology	7855	FZD5	OMIM:620731
HP:0012372	Abnormal eye morphology	6297	SALL2	OMIM:216820
HP:0012372	Abnormal eye morphology	27019	DNAI1	OMIM:244400
HP:0012372	Abnormal eye morphology	3909	LAMA3	ORPHA:79404
HP:0012372	Abnormal eye morphology	3918	LAMC2	ORPHA:79404
HP:0012372	Abnormal eye morphology	3914	LAMB3	ORPHA:79404
HP:0012372	Abnormal eye morphology	1290	COL5A2	ORPHA:287
HP:0012372	Abnormal eye morphology	5308	PITX2	OMIM:180550
HP:0012372	Abnormal eye morphology	1497	CTNS	ORPHA:411634
HP:0012372	Abnormal eye morphology	1497	CTNS	ORPHA:411629
HP:0012372	Abnormal eye morphology	51715	RAB23	ORPHA:65759
HP:0012372	Abnormal eye morphology	7045	TGFBI	ORPHA:98964
HP:0012372	Abnormal eye morphology	7528	YY1	ORPHA:506358
HP:0012372	Abnormal eye morphology	5087	PBX1	ORPHA:97362
HP:0012372	Abnormal eye morphology	4099	MAG	OMIM:616680
HP:0012372	Abnormal eye morphology	4099	MAG	ORPHA:459056
HP:0012372	Abnormal eye morphology	51256	TBC1D7	OMIM:248000
HP:0012372	Abnormal eye morphology	30000	TNPO2	OMIM:619556
HP:0012372	Abnormal eye morphology	10765	KDM5B	OMIM:618109
HP:0012372	Abnormal eye morphology	64116	SLC39A8	OMIM:616721
HP:0012372	Abnormal eye morphology	64116	SLC39A8	ORPHA:468699
HP:0012372	Abnormal eye morphology	3008	H1-4	OMIM:617537
HP:0012372	Abnormal eye morphology	7003	TEAD1	OMIM:108985
HP:0012372	Abnormal eye morphology	6812	STXBP1	ORPHA:495818
HP:0012372	Abnormal eye morphology	10686	CLDN16	OMIM:248250
HP:0012372	Abnormal eye morphology	157922	CAMSAP1	OMIM:620316
HP:0012372	Abnormal eye morphology	169522	KCNV2	OMIM:610356
HP:0012372	Abnormal eye morphology	5010	CLDN11	OMIM:619328
HP:0012372	Abnormal eye morphology	56915	EXOSC5	OMIM:619576
HP:0012372	Abnormal eye morphology	5119	CHMP1A	OMIM:614961
HP:0012372	Abnormal eye morphology	708	C1QBP	OMIM:617713
HP:0012372	Abnormal eye morphology	9241	NOG	OMIM:186500
HP:0012372	Abnormal eye morphology	222663	SCUBE3	OMIM:619184
HP:0012372	Abnormal eye morphology	54681	P4HTM	OMIM:618493
HP:0012372	Abnormal eye morphology	4761	NEUROD2	OMIM:618374
HP:0012372	Abnormal eye morphology	165	AEBP1	ORPHA:536532
HP:0012372	Abnormal eye morphology	2743	GLRB	OMIM:614619
HP:0012372	Abnormal eye morphology	9091	PIGQ	OMIM:618548
HP:0012372	Abnormal eye morphology	283446	MYO1H	OMIM:619482
HP:0012372	Abnormal eye morphology	2890	GRIA1	OMIM:619927
HP:0012372	Abnormal eye morphology	51341	ZBTB7A	OMIM:619769
HP:0012372	Abnormal eye morphology	9181	ARHGEF2	OMIM:617523
HP:0012372	Abnormal eye morphology	55294	FBXW7	OMIM:620012
HP:0012372	Abnormal eye morphology	23102	TBC1D2B	ORPHA:397973
HP:0012372	Abnormal eye morphology	64221	ROBO3	OMIM:607313
HP:0012372	Abnormal eye morphology	3767	KCNJ11	ORPHA:552
HP:0012372	Abnormal eye morphology	3767	KCNJ11	ORPHA:99885
HP:0012372	Abnormal eye morphology	8462	KLF11	ORPHA:552
HP:0012372	Abnormal eye morphology	2645	GCK	ORPHA:552
HP:0012372	Abnormal eye morphology	2645	GCK	ORPHA:99885
HP:0012372	Abnormal eye morphology	26060	APPL1	ORPHA:552
HP:0012372	Abnormal eye morphology	640	BLK	ORPHA:552
HP:0012372	Abnormal eye morphology	640	BLK	ORPHA:536
HP:0012372	Abnormal eye morphology	1056	CEL	ORPHA:552
HP:0012372	Abnormal eye morphology	4760	NEUROD1	ORPHA:552
HP:0012372	Abnormal eye morphology	3651	PDX1	ORPHA:552
HP:0012372	Abnormal eye morphology	3651	PDX1	ORPHA:99885
HP:0012372	Abnormal eye morphology	6833	ABCC8	ORPHA:552
HP:0012372	Abnormal eye morphology	6833	ABCC8	ORPHA:99885
HP:0012372	Abnormal eye morphology	5078	PAX4	ORPHA:552
HP:0012372	Abnormal eye morphology	3172	HNF4A	ORPHA:552
HP:0012372	Abnormal eye morphology	6927	HNF1A	ORPHA:552
HP:0012372	Abnormal eye morphology	3630	INS	ORPHA:552
HP:0012372	Abnormal eye morphology	3630	INS	ORPHA:99885
HP:0012372	Abnormal eye morphology	3043	HBB	ORPHA:232
HP:0012372	Abnormal eye morphology	3043	HBB	ORPHA:251380
HP:0012372	Abnormal eye morphology	3043	HBB	OMIM:603903
HP:0012372	Abnormal eye morphology	1355	COX15	OMIM:615119
HP:0012372	Abnormal eye morphology	5627	PROS1	ORPHA:743
HP:0012372	Abnormal eye morphology	10661	KLF1	ORPHA:251380
HP:0012372	Abnormal eye morphology	3047	HBG1	ORPHA:251380
HP:0012372	Abnormal eye morphology	3048	HBG2	ORPHA:251380
HP:0012372	Abnormal eye morphology	25828	TXN2	ORPHA:478029
HP:0012372	Abnormal eye morphology	25828	TXN2	OMIM:616811
HP:0012372	Abnormal eye morphology	1019	CDK4	ORPHA:618
HP:0012372	Abnormal eye morphology	4255	MGMT	ORPHA:618
HP:0012372	Abnormal eye morphology	54386	TERF2IP	ORPHA:618
HP:0012372	Abnormal eye morphology	65057	ACD	ORPHA:618
HP:0012372	Abnormal eye morphology	1029	CDKN2A	ORPHA:618
HP:0012372	Abnormal eye morphology	25913	POT1	ORPHA:618
HP:0012372	Abnormal eye morphology	1030	CDKN2B	ORPHA:618
HP:0012372	Abnormal eye morphology	256471	MFSD8	OMIM:610951
HP:0012372	Abnormal eye morphology	51128	SAR1B	ORPHA:71
HP:0012372	Abnormal eye morphology	2215	FCGR3B	ORPHA:536
HP:0012372	Abnormal eye morphology	3684	ITGAM	ORPHA:536
HP:0012372	Abnormal eye morphology	221895	JAZF1	ORPHA:536
HP:0012372	Abnormal eye morphology	7292	TNFSF4	ORPHA:536
HP:0012372	Abnormal eye morphology	55024	BANK1	ORPHA:536
HP:0012372	Abnormal eye morphology	3500	IGHG1	ORPHA:536
HP:0012372	Abnormal eye morphology	3654	IRAK1	ORPHA:536
HP:0012372	Abnormal eye morphology	5133	PDCD1	ORPHA:536
HP:0012372	Abnormal eye morphology	2113	ETS1	ORPHA:536
HP:0012372	Abnormal eye morphology	2213	FCGR2B	ORPHA:536
HP:0012372	Abnormal eye morphology	10318	TNIP1	ORPHA:536
HP:0012372	Abnormal eye morphology	7332	UBE2L3	ORPHA:536
HP:0012372	Abnormal eye morphology	79932	KIAA0319L	ORPHA:536
HP:0012372	Abnormal eye morphology	3663	IRF5	ORPHA:536
HP:0012372	Abnormal eye morphology	721	C4B	ORPHA:536
HP:0012372	Abnormal eye morphology	1773	DNASE1	ORPHA:536
HP:0012372	Abnormal eye morphology	51284	TLR7	ORPHA:536
HP:0012372	Abnormal eye morphology	6696	SPP1	ORPHA:536
HP:0012372	Abnormal eye morphology	54899	PXK	ORPHA:536
HP:0012372	Abnormal eye morphology	80025	PANK2	ORPHA:216873
HP:0012372	Abnormal eye morphology	3593	IL12B	ORPHA:3287
HP:0012372	Abnormal eye morphology	6945	MLX	ORPHA:3287
HP:0012372	Abnormal eye morphology	9203	ZMYM3	OMIM:301111
HP:0012372	Abnormal eye morphology	4982	TNFRSF11B	OMIM:239000
HP:0012372	Abnormal eye morphology	10533	ATG7	OMIM:619422
HP:0012372	Abnormal eye morphology	375056	MIA3	OMIM:619269
HP:0012372	Abnormal eye morphology	9907	AP5Z1	ORPHA:306511
HP:0012372	Abnormal eye morphology	9907	AP5Z1	OMIM:613647
HP:0012372	Abnormal eye morphology	1001	CDH3	ORPHA:1897
HP:0012372	Abnormal eye morphology	8367	H4C5	OMIM:619950
HP:0012372	Abnormal eye morphology	10059	DNM1L	OMIM:614388
HP:0012372	Abnormal eye morphology	91801	ALKBH8	OMIM:618504
HP:0012372	Abnormal eye morphology	10274	STAG1	ORPHA:502434
HP:0012372	Abnormal eye morphology	10274	STAG1	OMIM:617635
HP:0012372	Abnormal eye morphology	5457	POU4F1	ORPHA:314647
HP:0012372	Abnormal eye morphology	4983	OPHN1	OMIM:300486
HP:0012372	Abnormal eye morphology	4983	OPHN1	ORPHA:137831
HP:0012372	Abnormal eye morphology	613	BCR	ORPHA:261330
HP:0012372	Abnormal eye morphology	1399	CRKL	ORPHA:261330
HP:0012372	Abnormal eye morphology	22858	CILK1	OMIM:612651
HP:0012372	Abnormal eye morphology	55904	KMT2E	OMIM:618512
HP:0012372	Abnormal eye morphology	80055	PGAP1	OMIM:615802
HP:0012372	Abnormal eye morphology	129563	DIS3L2	ORPHA:2849
HP:0012372	Abnormal eye morphology	28960	DCPS	OMIM:616459
HP:0012372	Abnormal eye morphology	9915	ARNT2	OMIM:615926
HP:0012372	Abnormal eye morphology	7175	TPR	OMIM:620393
HP:0012372	Abnormal eye morphology	10559	SLC35A1	OMIM:603585
HP:0012372	Abnormal eye morphology	28958	COA3	OMIM:619058
HP:0012372	Abnormal eye morphology	2892	GRIA3	OMIM:300699
HP:0012372	Abnormal eye morphology	2892	GRIA3	ORPHA:364028
HP:0012372	Abnormal eye morphology	1351	COX8A	OMIM:619059
HP:0012372	Abnormal eye morphology	816	CAMK2B	OMIM:617799
HP:0012372	Abnormal eye morphology	10015	PDCD6IP	OMIM:620047
HP:0012372	Abnormal eye morphology	2626	GATA4	ORPHA:251071
HP:0012372	Abnormal eye morphology	9377	COX5A	OMIM:619064
HP:0012372	Abnormal eye morphology	4212	MEIS2	OMIM:600987
HP:0012372	Abnormal eye morphology	4212	MEIS2	ORPHA:261190
HP:0012372	Abnormal eye morphology	132158	GLYCTK	OMIM:220120
HP:0012372	Abnormal eye morphology	26057	ANKRD17	OMIM:619504
HP:0012372	Abnormal eye morphology	10801	SEPTIN9	OMIM:162100
HP:0012372	Abnormal eye morphology	7840	ALMS1	ORPHA:64
HP:0012372	Abnormal eye morphology	6792	CDKL5	OMIM:300672
HP:0012372	Abnormal eye morphology	6792	CDKL5	ORPHA:505652
HP:0012372	Abnormal eye morphology	57498	KIDINS220	ORPHA:521390
HP:0012372	Abnormal eye morphology	57498	KIDINS220	OMIM:617296
HP:0012372	Abnormal eye morphology	5063	PAK3	OMIM:300558
HP:0012372	Abnormal eye morphology	55699	IARS2	OMIM:616007
HP:0012372	Abnormal eye morphology	4803	NGF	ORPHA:64752
HP:0012372	Abnormal eye morphology	4914	NTRK1	ORPHA:64752
HP:0012372	Abnormal eye morphology	5590	PRKCZ	ORPHA:1606
HP:0012372	Abnormal eye morphology	2563	GABRD	ORPHA:1606
HP:0012372	Abnormal eye morphology	8510	MMP23B	ORPHA:1606
HP:0012372	Abnormal eye morphology	7798	LUZP1	ORPHA:1606
HP:0012372	Abnormal eye morphology	10630	PDPN	ORPHA:1606
HP:0012372	Abnormal eye morphology	10277	UBE4B	ORPHA:1606
HP:0012372	Abnormal eye morphology	8514	KCNAB2	ORPHA:1606
HP:0012372	Abnormal eye morphology	63976	PRDM16	ORPHA:1606
HP:0012372	Abnormal eye morphology	54897	CASZ1	ORPHA:1606
HP:0012372	Abnormal eye morphology	10056	FARSB	OMIM:613658
HP:0012372	Abnormal eye morphology	7337	UBE3A	OMIM:105830
HP:0012372	Abnormal eye morphology	8379	MAD1L1	OMIM:620189
HP:0012372	Abnormal eye morphology	145258	GSC	OMIM:602471
HP:0012372	Abnormal eye morphology	51611	DPH5	OMIM:620070
HP:0012372	Abnormal eye morphology	79228	THOC6	ORPHA:363444
HP:0012372	Abnormal eye morphology	79228	THOC6	OMIM:613680
HP:0012372	Abnormal eye morphology	55210	ATAD3A	ORPHA:496790
HP:0012372	Abnormal eye morphology	55210	ATAD3A	OMIM:617183
HP:0012372	Abnormal eye morphology	253959	RALGAPA1	OMIM:618797
HP:0012372	Abnormal eye morphology	7358	UGDH	OMIM:618792
HP:0012372	Abnormal eye morphology	6942	TCF20	OMIM:618430
HP:0012372	Abnormal eye morphology	81887	LAS1L	ORPHA:3459
HP:0012372	Abnormal eye morphology	4285	MIPEP	OMIM:617228
HP:0012372	Abnormal eye morphology	5591	PRKDC	OMIM:615966
HP:0012372	Abnormal eye morphology	6901	TAFAZZIN	OMIM:302060
HP:0012372	Abnormal eye morphology	388015	RTL1	ORPHA:96334
HP:0012372	Abnormal eye morphology	8788	DLK1	ORPHA:96334
HP:0012372	Abnormal eye morphology	55384	MEG3	ORPHA:96334
HP:0012372	Abnormal eye morphology	6714	SRC	OMIM:616937
HP:0012372	Abnormal eye morphology	8242	KDM5C	OMIM:300534
HP:0012372	Abnormal eye morphology	8242	KDM5C	ORPHA:85279
HP:0012372	Abnormal eye morphology	8565	YARS1	OMIM:619418
HP:0012372	Abnormal eye morphology	7994	KAT6A	OMIM:616268
HP:0012372	Abnormal eye morphology	51574	LARP7	ORPHA:319671
HP:0012372	Abnormal eye morphology	51574	LARP7	OMIM:615071
HP:0012372	Abnormal eye morphology	84295	PHF6	ORPHA:127
HP:0012372	Abnormal eye morphology	84295	PHF6	OMIM:301900
HP:0012372	Abnormal eye morphology	84876	ORAI1	ORPHA:3204
HP:0012372	Abnormal eye morphology	6786	STIM1	ORPHA:3204
HP:0012372	Abnormal eye morphology	6786	STIM1	OMIM:185070
HP:0012372	Abnormal eye morphology	1917	EEF1A2	OMIM:616393
HP:0012372	Abnormal eye morphology	81603	TRIM8	OMIM:619428
HP:0012372	Abnormal eye morphology	8905	AP1S2	OMIM:304340
HP:0012372	Abnormal eye morphology	55906	ZC4H2	OMIM:301041
HP:0012372	Abnormal eye morphology	27238	GPKOW	ORPHA:2570
HP:0012372	Abnormal eye morphology	54517	PUS7	OMIM:618342
HP:0012372	Abnormal eye morphology	84320	ACBD6	OMIM:620785
HP:0012372	Abnormal eye morphology	128869	PIGU	OMIM:618590
HP:0012372	Abnormal eye morphology	57520	HECW2	OMIM:617268
HP:0012372	Abnormal eye morphology	8882	ZPR1	OMIM:619321
HP:0012372	Abnormal eye morphology	23524	SRRM2	OMIM:620439
HP:0012372	Abnormal eye morphology	5339	PLEC	OMIM:612138
HP:0012372	Abnormal eye morphology	84679	SLC9A7	OMIM:301024
HP:0012372	Abnormal eye morphology	90161	HS6ST2	OMIM:301025
HP:0012372	Abnormal eye morphology	1725	DHPS	OMIM:618480
HP:0012372	Abnormal eye morphology	23221	RHOBTB2	OMIM:618004
HP:0012372	Abnormal eye morphology	11145	PLAAT3	OMIM:620683
HP:0012372	Abnormal eye morphology	6821	SUOX	OMIM:272300
HP:0012372	Abnormal eye morphology	10943	MSL3	OMIM:301032
HP:0012372	Abnormal eye morphology	3977	LIFR	OMIM:601559
HP:0012372	Abnormal eye morphology	80185	TTI2	OMIM:615541
HP:0012372	Abnormal eye morphology	80185	TTI2	ORPHA:391307
HP:0012372	Abnormal eye morphology	25	ABL1	OMIM:617602
HP:0012372	Abnormal eye morphology	6874	TAF4	OMIM:620450
HP:0012372	Abnormal eye morphology	50801	KCNK4	OMIM:618381
HP:0012372	Abnormal eye morphology	80036	TRPM3	OMIM:620224
HP:0012372	Abnormal eye morphology	5058	PAK1	OMIM:618158
HP:0012372	Abnormal eye morphology	57038	RARS2	OMIM:611523
HP:0012372	Abnormal eye morphology	6329	SCN4A	OMIM:620351
HP:0012372	Abnormal eye morphology	6329	SCN4A	OMIM:620369
HP:0012372	Abnormal eye morphology	6748	SSR4	ORPHA:370927
HP:0012372	Abnormal eye morphology	6748	SSR4	OMIM:300934
HP:0012372	Abnormal eye morphology	2332	FMR1	ORPHA:261483
HP:0012372	Abnormal eye morphology	7518	XRCC4	OMIM:616541
HP:0012372	Abnormal eye morphology	10479	SLC9A6	ORPHA:85278
HP:0012372	Abnormal eye morphology	2193	FARSA	OMIM:619013
HP:0012372	Abnormal eye morphology	178	AGL	OMIM:232400
HP:0012372	Abnormal eye morphology	5449	POU1F1	OMIM:613038
HP:0012372	Abnormal eye morphology	9757	KMT2B	OMIM:619934
HP:0012372	Abnormal eye morphology	139886	SPIN4	OMIM:301114
HP:0012372	Abnormal eye morphology	23040	MYT1L	ORPHA:647799
HP:0012372	Abnormal eye morphology	27161	AGO2	OMIM:619149
HP:0012372	Abnormal eye morphology	23404	EXOSC2	OMIM:617763
HP:0012372	Abnormal eye morphology	2902	GRIN1	OMIM:614254
HP:0012372	Abnormal eye morphology	4858	NOVA2	OMIM:618859
HP:0012372	Abnormal eye morphology	9373	PLAA	OMIM:617527
HP:0012372	Abnormal eye morphology	3480	IGF1R	OMIM:270450
HP:0012372	Abnormal eye morphology	8218	CLTCL1	ORPHA:453510
HP:0012372	Abnormal eye morphology	242	ALOX12B	ORPHA:79394
HP:0012372	Abnormal eye morphology	204219	CERS3	ORPHA:79394
HP:0012372	Abnormal eye morphology	6820	SULT2B1	ORPHA:79394
HP:0012372	Abnormal eye morphology	285848	PNPLA1	ORPHA:79394
HP:0012372	Abnormal eye morphology	59344	ALOXE3	ORPHA:79394
HP:0012372	Abnormal eye morphology	348938	NIPAL4	ORPHA:79394
HP:0012372	Abnormal eye morphology	7051	TGM1	ORPHA:79394
HP:0012372	Abnormal eye morphology	121214	SDR9C7	ORPHA:79394
HP:0012372	Abnormal eye morphology	9244	CRLF1	OMIM:272430
HP:0012372	Abnormal eye morphology	3850	KRT3	OMIM:618767
HP:0012372	Abnormal eye morphology	4126	MANBA	OMIM:248510
HP:0012372	Abnormal eye morphology	695	BTK	OMIM:300755
HP:0012372	Abnormal eye morphology	695	BTK	ORPHA:47
HP:0012372	Abnormal eye morphology	695	BTK	OMIM:307200
HP:0012372	Abnormal eye morphology	55630	SLC39A4	ORPHA:37
HP:0012372	Abnormal eye morphology	5896	RAG1	OMIM:601457
HP:0012372	Abnormal eye morphology	5897	RAG2	OMIM:601457
HP:0012372	Abnormal eye morphology	162	AP1B1	OMIM:242150
HP:0012372	Abnormal eye morphology	5429	POLH	OMIM:278750
HP:0012372	Abnormal eye morphology	8626	TP63	OMIM:103285
HP:0012372	Abnormal eye morphology	8626	TP63	OMIM:106260
HP:0012372	Abnormal eye morphology	65082	VPS33A	ORPHA:505248
HP:0012372	Abnormal eye morphology	10320	IKZF1	ORPHA:36426
HP:0012372	Abnormal eye morphology	115650	TNFRSF13C	OMIM:240500
HP:0012372	Abnormal eye morphology	29851	ICOS	OMIM:240500
HP:0012372	Abnormal eye morphology	29851	ICOS	OMIM:607594
HP:0012372	Abnormal eye morphology	930	CD19	OMIM:240500
HP:0012372	Abnormal eye morphology	930	CD19	OMIM:613493
HP:0012372	Abnormal eye morphology	23495	TNFRSF13B	OMIM:240500
HP:0012372	Abnormal eye morphology	1380	CR2	OMIM:240500
HP:0012372	Abnormal eye morphology	7037	TFRC	OMIM:616740
HP:0012372	Abnormal eye morphology	686	BTD	OMIM:253260
HP:0012372	Abnormal eye morphology	686	BTD	ORPHA:79241
HP:0012372	Abnormal eye morphology	7454	WAS	ORPHA:906
HP:0012372	Abnormal eye morphology	7456	WIPF1	ORPHA:906
HP:0012372	Abnormal eye morphology	8676	STX11	OMIM:603552
HP:0012372	Abnormal eye morphology	5340	PLG	OMIM:217090
HP:0012372	Abnormal eye morphology	5692	PSMB4	OMIM:617591
HP:0012372	Abnormal eye morphology	29110	TBK1	OMIM:620880
HP:0012372	Abnormal eye morphology	54809	SAMD9	OMIM:610455
HP:0012372	Abnormal eye morphology	3321	IGSF3	OMIM:149700
HP:0012372	Abnormal eye morphology	6311	ATXN2	OMIM:183090
HP:0012372	Abnormal eye morphology	4646	MYO6	OMIM:607821
HP:0012372	Abnormal eye morphology	55012	PPP2R3C	OMIM:618419
HP:0012372	Abnormal eye morphology	491	ATP2B2	OMIM:601386
HP:0012372	Abnormal eye morphology	6134	RPL10	ORPHA:459070
HP:0012372	Abnormal eye morphology	6134	RPL10	OMIM:300998
HP:0012372	Abnormal eye morphology	7355	SLC35A2	OMIM:300896
HP:0012372	Abnormal eye morphology	2625	GATA3	ORPHA:2237
HP:0012372	Abnormal eye morphology	25981	DNAH1	ORPHA:244
HP:0012372	Abnormal eye morphology	115948	ODAD3	ORPHA:244
HP:0012372	Abnormal eye morphology	54768	HYDIN	ORPHA:244
HP:0012372	Abnormal eye morphology	352909	DNAAF3	ORPHA:244
HP:0012372	Abnormal eye morphology	27148	STK36	ORPHA:244
HP:0012372	Abnormal eye morphology	51314	NME8	ORPHA:244
HP:0012372	Abnormal eye morphology	92749	DRC1	ORPHA:244
HP:0012372	Abnormal eye morphology	54970	TTC12	ORPHA:244
HP:0012372	Abnormal eye morphology	152110	NEK10	ORPHA:244
HP:0012372	Abnormal eye morphology	2302	FOXJ1	ORPHA:244
HP:0012372	Abnormal eye morphology	221421	RSPH9	ORPHA:244
HP:0012372	Abnormal eye morphology	85478	CCDC65	ORPHA:244
HP:0012372	Abnormal eye morphology	55036	CCDC40	ORPHA:244
HP:0012372	Abnormal eye morphology	51364	ZMYND10	ORPHA:244
HP:0012372	Abnormal eye morphology	64446	DNAI2	ORPHA:244
HP:0012372	Abnormal eye morphology	8382	NME5	ORPHA:244
HP:0012372	Abnormal eye morphology	6674	SPAG1	ORPHA:244
HP:0012372	Abnormal eye morphology	83544	DNAL1	ORPHA:244
HP:0012372	Abnormal eye morphology	89765	RSPH1	ORPHA:244
HP:0012372	Abnormal eye morphology	83538	ODAD4	ORPHA:244
HP:0012372	Abnormal eye morphology	200373	CFAP221	ORPHA:244
HP:0012372	Abnormal eye morphology	374407	DNAJB13	ORPHA:244
HP:0012372	Abnormal eye morphology	55172	DNAAF2	ORPHA:244
HP:0012372	Abnormal eye morphology	161582	DNAAF4	ORPHA:244
HP:0012372	Abnormal eye morphology	2622	GAS8	ORPHA:244
HP:0012372	Abnormal eye morphology	23639	DNAAF11	ORPHA:244
HP:0012372	Abnormal eye morphology	345895	RSPH4A	ORPHA:244
HP:0012372	Abnormal eye morphology	54919	DNAAF5	ORPHA:244
HP:0012372	Abnormal eye morphology	85452	CFAP74	ORPHA:244
HP:0012372	Abnormal eye morphology	93233	ODAD1	ORPHA:244
HP:0012372	Abnormal eye morphology	55130	ODAD2	ORPHA:244
HP:0012372	Abnormal eye morphology	1767	DNAH5	ORPHA:244
HP:0012372	Abnormal eye morphology	83861	RSPH3	ORPHA:244
HP:0012372	Abnormal eye morphology	345643	MCIDAS	ORPHA:244
HP:0012372	Abnormal eye morphology	56683	CFAP298	ORPHA:244
HP:0012372	Abnormal eye morphology	79925	SPEF2	ORPHA:244
HP:0012372	Abnormal eye morphology	10309	CCNO	ORPHA:244
HP:0012372	Abnormal eye morphology	115399	LRRC56	ORPHA:244
HP:0012372	Abnormal eye morphology	139212	DNAAF6	ORPHA:244
HP:0012372	Abnormal eye morphology	123872	DNAAF1	ORPHA:244
HP:0012372	Abnormal eye morphology	85016	CFAP300	ORPHA:244
HP:0012372	Abnormal eye morphology	339829	CCDC39	ORPHA:244
HP:0012372	Abnormal eye morphology	8701	DNAH11	ORPHA:244
HP:0012372	Abnormal eye morphology	1770	DNAH9	ORPHA:244
HP:0012372	Abnormal eye morphology	246176	GAS2L2	ORPHA:244
HP:0012372	Abnormal eye morphology	3329	HSPD1	ORPHA:100994
HP:0012372	Abnormal eye morphology	3798	KIF5A	ORPHA:100991
HP:0012372	Abnormal eye morphology	443	ASPA	ORPHA:314918
HP:0012372	Abnormal eye morphology	4704	NDUFA9	OMIM:618247
HP:0012372	Abnormal eye morphology	253827	MSRB3	OMIM:613718
HP:0012372	Abnormal eye morphology	4016	LOXL1	OMIM:177650
HP:0012372	Abnormal eye morphology	875	CBS	ORPHA:394
HP:0012372	Abnormal eye morphology	1410	CRYAB	OMIM:608810
HP:0012372	Abnormal eye morphology	1410	CRYAB	OMIM:615184
HP:0012372	Abnormal eye morphology	83932	SPRTN	OMIM:616200
HP:0012372	Abnormal eye morphology	54507	ADAMTSL4	ORPHA:1885
HP:0012372	Abnormal eye morphology	54507	ADAMTSL4	OMIM:225200
HP:0012372	Abnormal eye morphology	3145	HMBS	OMIM:620704
HP:0012372	Abnormal eye morphology	2972	BRF1	OMIM:616202
HP:0012372	Abnormal eye morphology	2972	BRF1	ORPHA:444072
HP:0012372	Abnormal eye morphology	60684	TRAPPC11	OMIM:615356
HP:0012372	Abnormal eye morphology	60684	TRAPPC11	ORPHA:369840
HP:0012372	Abnormal eye morphology	60684	TRAPPC11	ORPHA:369847
HP:0012372	Abnormal eye morphology	1786	DNMT1	ORPHA:314404
HP:0012372	Abnormal eye morphology	347733	TUBB2B	ORPHA:1766
HP:0012372	Abnormal eye morphology	347733	TUBB2B	ORPHA:45358
HP:0012372	Abnormal eye morphology	7436	VLDLR	ORPHA:1766
HP:0012372	Abnormal eye morphology	7436	VLDLR	OMIM:224050
HP:0012372	Abnormal eye morphology	124997	WDR81	ORPHA:1766
HP:0012372	Abnormal eye morphology	51761	ATP8A2	ORPHA:1766
HP:0012372	Abnormal eye morphology	767	CA8	ORPHA:1766
HP:0012372	Abnormal eye morphology	114803	MYSM1	ORPHA:508542
HP:0012372	Abnormal eye morphology	7486	WRN	OMIM:277700
HP:0012372	Abnormal eye morphology	7486	WRN	ORPHA:902
HP:0012372	Abnormal eye morphology	23250	ATP11A	OMIM:619851
HP:0012372	Abnormal eye morphology	1298	COL9A2	OMIM:614284
HP:0012372	Abnormal eye morphology	1298	COL9A2	ORPHA:250984
HP:0012372	Abnormal eye morphology	130589	GALM	OMIM:618881
HP:0012372	Abnormal eye morphology	130589	GALM	ORPHA:570422
HP:0012372	Abnormal eye morphology	2671	GFER	OMIM:613076
HP:0012372	Abnormal eye morphology	51109	RDH11	OMIM:616108
HP:0012372	Abnormal eye morphology	79140	CCDC28B	OMIM:209900
HP:0012372	Abnormal eye morphology	2512	FTL	ORPHA:163
HP:0012372	Abnormal eye morphology	2512	FTL	ORPHA:254704
HP:0012372	Abnormal eye morphology	2512	FTL	OMIM:600886
HP:0012372	Abnormal eye morphology	857	CAV1	OMIM:606721
HP:0012372	Abnormal eye morphology	54968	TMEM70	OMIM:614052
HP:0012372	Abnormal eye morphology	55214	P3H2	OMIM:614292
HP:0012372	Abnormal eye morphology	8550	MAPKAPK5	OMIM:619869
HP:0012372	Abnormal eye morphology	51004	COQ6	ORPHA:93921
HP:0012372	Abnormal eye morphology	1201	CLN3	OMIM:204200
HP:0012372	Abnormal eye morphology	23268	DNMBP	OMIM:618415
HP:0012372	Abnormal eye morphology	81794	ADAMTS10	OMIM:277600
HP:0012372	Abnormal eye morphology	81794	ADAMTS10	ORPHA:3449
HP:0012372	Abnormal eye morphology	2936	GSR	OMIM:618660
HP:0012372	Abnormal eye morphology	3769	KCNJ13	OMIM:614186
HP:0012372	Abnormal eye morphology	3769	KCNJ13	ORPHA:65
HP:0012372	Abnormal eye morphology	3769	KCNJ13	OMIM:193230
HP:0012372	Abnormal eye morphology	2592	GALT	OMIM:230400
HP:0012372	Abnormal eye morphology	2592	GALT	ORPHA:79239
HP:0012372	Abnormal eye morphology	415	ARSL	ORPHA:79345
HP:0012372	Abnormal eye morphology	415	ARSL	OMIM:302950
HP:0012372	Abnormal eye morphology	229	ALDOB	ORPHA:469
HP:0012372	Abnormal eye morphology	2232	FDXR	ORPHA:543470
HP:0012372	Abnormal eye morphology	9562	MINPP1	OMIM:619527
HP:0012372	Abnormal eye morphology	55739	NAXD	OMIM:618321
HP:0012372	Abnormal eye morphology	326	AIRE	OMIM:240300
HP:0012372	Abnormal eye morphology	326	AIRE	ORPHA:3453
HP:0012372	Abnormal eye morphology	5741	PTH	OMIM:146200
HP:0012372	Abnormal eye morphology	2778	GNAS	ORPHA:79443
HP:0012372	Abnormal eye morphology	2778	GNAS	ORPHA:79444
HP:0012372	Abnormal eye morphology	2778	GNAS	ORPHA:94089
HP:0012372	Abnormal eye morphology	2778	GNAS	OMIM:612463
HP:0012372	Abnormal eye morphology	2778	GNAS	OMIM:612462
HP:0012372	Abnormal eye morphology	2778	GNAS	OMIM:103580
HP:0012372	Abnormal eye morphology	23676	SMPX	OMIM:301075
HP:0012372	Abnormal eye morphology	81570	CLPB	OMIM:616271
HP:0012372	Abnormal eye morphology	81570	CLPB	ORPHA:445038
HP:0012372	Abnormal eye morphology	81570	CLPB	OMIM:619813
HP:0012372	Abnormal eye morphology	3980	LIG3	OMIM:619780
HP:0012372	Abnormal eye morphology	84695	LOXL3	OMIM:619781
HP:0012372	Abnormal eye morphology	3000	GUCY2D	OMIM:204000
HP:0012372	Abnormal eye morphology	3000	GUCY2D	ORPHA:65
HP:0012372	Abnormal eye morphology	27429	HTRA2	OMIM:617248
HP:0012372	Abnormal eye morphology	2582	GALE	OMIM:620776
HP:0012372	Abnormal eye morphology	389827	MYMK	OMIM:254940
HP:0012372	Abnormal eye morphology	9949	AMMECR1	OMIM:300990
HP:0012372	Abnormal eye morphology	5428	POLG	ORPHA:254892
HP:0012372	Abnormal eye morphology	5428	POLG	OMIM:157640
HP:0012372	Abnormal eye morphology	5428	POLG	OMIM:607459
HP:0012372	Abnormal eye morphology	5428	POLG	ORPHA:70595
HP:0012372	Abnormal eye morphology	56652	TWNK	ORPHA:254892
HP:0012372	Abnormal eye morphology	56652	TWNK	OMIM:609286
HP:0012372	Abnormal eye morphology	56652	TWNK	OMIM:607459
HP:0012372	Abnormal eye morphology	56652	TWNK	ORPHA:70595
HP:0012372	Abnormal eye morphology	11232	POLG2	ORPHA:254892
HP:0012372	Abnormal eye morphology	50484	RRM2B	ORPHA:254892
HP:0012372	Abnormal eye morphology	50484	RRM2B	OMIM:268315
HP:0012372	Abnormal eye morphology	9361	LONP1	OMIM:600373
HP:0012372	Abnormal eye morphology	9361	LONP1	ORPHA:1458
HP:0012372	Abnormal eye morphology	3912	LAMB1	OMIM:615191
HP:0012372	Abnormal eye morphology	51422	PRKAG2	OMIM:261740
HP:0012372	Abnormal eye morphology	79876	UBA5	OMIM:617133
HP:0012372	Abnormal eye morphology	335	APOA1	OMIM:618463
HP:0012372	Abnormal eye morphology	55505	NOP10	OMIM:620425
HP:0012372	Abnormal eye morphology	55505	NOP10	ORPHA:1775
HP:0012372	Abnormal eye morphology	2355	FOSL2	OMIM:620789
HP:0012372	Abnormal eye morphology	8675	STX16	ORPHA:94089
HP:0012372	Abnormal eye morphology	1294	COL7A1	OMIM:226600
HP:0012372	Abnormal eye morphology	2250	FGF5	OMIM:190330
HP:0012372	Abnormal eye morphology	8892	EIF2B2	OMIM:620312
HP:0012372	Abnormal eye morphology	1760	DMPK	OMIM:160900
HP:0012372	Abnormal eye morphology	1760	DMPK	ORPHA:589821
HP:0012372	Abnormal eye morphology	4942	OAT	ORPHA:414
HP:0012372	Abnormal eye morphology	147409	DSG4	ORPHA:573
HP:0012372	Abnormal eye morphology	3892	KRT86	ORPHA:573
HP:0012372	Abnormal eye morphology	3889	KRT83	ORPHA:573
HP:0012372	Abnormal eye morphology	3887	KRT81	ORPHA:573
HP:0012372	Abnormal eye morphology	4976	OPA1	ORPHA:98673
HP:0012372	Abnormal eye morphology	28982	FLVCR1	ORPHA:88628
HP:0012372	Abnormal eye morphology	28982	FLVCR1	OMIM:609033
HP:0012372	Abnormal eye morphology	63925	ZNF335	OMIM:615095
HP:0012372	Abnormal eye morphology	112939	NACC1	OMIM:617393
HP:0012372	Abnormal eye morphology	400569	MED11	OMIM:620327
HP:0012372	Abnormal eye morphology	10483	SEC23B	ORPHA:201
HP:0012372	Abnormal eye morphology	6390	SDHB	ORPHA:201
HP:0012372	Abnormal eye morphology	6392	SDHD	ORPHA:201
HP:0012372	Abnormal eye morphology	6391	SDHC	ORPHA:201
HP:0012372	Abnormal eye morphology	205717	USF3	ORPHA:201
HP:0012372	Abnormal eye morphology	100144748	KLLN	ORPHA:201
HP:0012372	Abnormal eye morphology	2583	B4GALNT1	ORPHA:101006
HP:0012372	Abnormal eye morphology	11342	RNF13	OMIM:618379
HP:0012372	Abnormal eye morphology	11342	RNF13	ORPHA:544503
HP:0012372	Abnormal eye morphology	64374	SIL1	ORPHA:559
HP:0012372	Abnormal eye morphology	1286	COL4A4	OMIM:203780
HP:0012372	Abnormal eye morphology	6050	RNH1	OMIM:620461
HP:0012372	Abnormal eye morphology	1412	CRYBA2	OMIM:115900
HP:0012372	Abnormal eye morphology	215	ABCD1	ORPHA:369942
HP:0012372	Abnormal eye morphology	10134	BCAP31	ORPHA:369942
HP:0012372	Abnormal eye morphology	8720	MBTPS1	OMIM:618392
HP:0012372	Abnormal eye morphology	57477	SHROOM4	ORPHA:85288
HP:0012372	Abnormal eye morphology	57704	GBA2	ORPHA:320391
HP:0012372	Abnormal eye morphology	57704	GBA2	OMIM:614409
HP:0012372	Abnormal eye morphology	1315	COPB1	OMIM:619255
HP:0012372	Abnormal eye morphology	10295	BCKDK	OMIM:614923
HP:0012372	Abnormal eye morphology	55181	SMG8	OMIM:619268
HP:0012372	Abnormal eye morphology	87178	PNPT1	OMIM:614932
HP:0012372	Abnormal eye morphology	1462	VCAN	OMIM:143200
HP:0012372	Abnormal eye morphology	26146	TRAF3IP1	ORPHA:3156
HP:0012372	Abnormal eye morphology	9657	IQCB1	ORPHA:3156
HP:0012372	Abnormal eye morphology	9657	IQCB1	ORPHA:65
HP:0012372	Abnormal eye morphology	27130	INVS	ORPHA:3156
HP:0012372	Abnormal eye morphology	261734	NPHP4	ORPHA:3156
HP:0012372	Abnormal eye morphology	27031	NPHP3	ORPHA:3156
HP:0012372	Abnormal eye morphology	22897	CEP164	ORPHA:3156
HP:0012372	Abnormal eye morphology	9987	HNRNPDL	OMIM:609115
HP:0012372	Abnormal eye morphology	6309	SC5D	ORPHA:46059
HP:0012372	Abnormal eye morphology	6309	SC5D	OMIM:607330
HP:0012372	Abnormal eye morphology	80207	OPA3	OMIM:165300
HP:0012372	Abnormal eye morphology	80207	OPA3	ORPHA:67036
HP:0012372	Abnormal eye morphology	10297	APC2	ORPHA:821
HP:0012372	Abnormal eye morphology	55112	DYNC2I1	ORPHA:93271
HP:0012372	Abnormal eye morphology	57560	IFT80	ORPHA:93271
HP:0012372	Abnormal eye morphology	79659	DYNC2H1	ORPHA:93271
HP:0012372	Abnormal eye morphology	89891	DYNC2I2	ORPHA:93271
HP:0012372	Abnormal eye morphology	8443	GNPAT	OMIM:222765
HP:0012372	Abnormal eye morphology	23600	AMACR	ORPHA:79095
HP:0012372	Abnormal eye morphology	23600	AMACR	OMIM:614307
HP:0012372	Abnormal eye morphology	30061	SLC40A1	OMIM:606069
HP:0012372	Abnormal eye morphology	4509	MT-ATP8	ORPHA:254913
HP:0012372	Abnormal eye morphology	514	ATP5F1E	ORPHA:254913
HP:0012372	Abnormal eye morphology	513	ATP5F1D	ORPHA:254913
HP:0012372	Abnormal eye morphology	498	ATP5F1A	ORPHA:254913
HP:0012372	Abnormal eye morphology	4508	MT-ATP6	ORPHA:254913
HP:0012372	Abnormal eye morphology	84833	ATP5MK	ORPHA:254913
HP:0012372	Abnormal eye morphology	91647	ATPAF2	ORPHA:254913
HP:0012372	Abnormal eye morphology	1716	DGUOK	ORPHA:329314
HP:0012372	Abnormal eye morphology	7555	CNBP	ORPHA:606
HP:0012372	Abnormal eye morphology	55107	ANO1	OMIM:620045
HP:0012372	Abnormal eye morphology	7466	WFS1	OMIM:222300
HP:0012372	Abnormal eye morphology	26090	ABHD12	OMIM:612674
HP:0012372	Abnormal eye morphology	23424	TDRD7	OMIM:613887
HP:0012372	Abnormal eye morphology	374393	FAM111B	OMIM:615704
HP:0012372	Abnormal eye morphology	1174	AP1S1	OMIM:609313
HP:0012372	Abnormal eye morphology	343035	RD3	ORPHA:65
HP:0012372	Abnormal eye morphology	10383	TUBB4B	ORPHA:65
HP:0012372	Abnormal eye morphology	85015	USP45	ORPHA:65
HP:0012372	Abnormal eye morphology	23746	AIPL1	ORPHA:65
HP:0012372	Abnormal eye morphology	91754	NEK9	ORPHA:64754
HP:0012372	Abnormal eye morphology	55719	SLF2	OMIM:620184
HP:0012372	Abnormal eye morphology	2934	GSN	ORPHA:85448
HP:0012372	Abnormal eye morphology	2934	GSN	OMIM:105120
HP:0012372	Abnormal eye morphology	5336	PLCG2	OMIM:614878
HP:0012372	Abnormal eye morphology	10165	SLC25A13	ORPHA:247598
HP:0012372	Abnormal eye morphology	3178	HNRNPA1	ORPHA:52430
HP:0012372	Abnormal eye morphology	7415	VCP	ORPHA:52430
HP:0012372	Abnormal eye morphology	3181	HNRNPA2B1	ORPHA:52430
HP:0012372	Abnormal eye morphology	55129	ANO10	ORPHA:284289
HP:0012372	Abnormal eye morphology	50628	GEMIN4	OMIM:617913
HP:0012372	Abnormal eye morphology	81846	SBF2	ORPHA:99956
HP:0012372	Abnormal eye morphology	1297	COL9A1	ORPHA:250984
HP:0012372	Abnormal eye morphology	1297	COL9A1	OMIM:614134
HP:0012372	Abnormal eye morphology	1299	COL9A3	ORPHA:250984
HP:0012372	Abnormal eye morphology	1288	COL4A6	ORPHA:1018
HP:0012372	Abnormal eye morphology	1287	COL4A5	ORPHA:1018
HP:0012372	Abnormal eye morphology	9420	CYP7B1	ORPHA:100986
HP:0012372	Abnormal eye morphology	9420	CYP7B1	OMIM:270800
HP:0012372	Abnormal eye morphology	4047	LSS	ORPHA:1366
HP:0012372	Abnormal eye morphology	2584	GALK1	OMIM:230200
HP:0012372	Abnormal eye morphology	2584	GALK1	ORPHA:79237
HP:0012372	Abnormal eye morphology	401	PHOX2A	ORPHA:45358
HP:0012372	Abnormal eye morphology	10381	TUBB3	ORPHA:45358
HP:0012372	Abnormal eye morphology	3313	HSPA9	OMIM:616854
HP:0012372	Abnormal eye morphology	22880	MORC2	ORPHA:466768
HP:0012372	Abnormal eye morphology	387700	SLC16A12	OMIM:612018
HP:0012372	Abnormal eye morphology	8671	SLC4A4	OMIM:604278
HP:0012372	Abnormal eye morphology	7283	TUBG1	OMIM:615412
HP:0012372	Abnormal eye morphology	8985	PLOD3	OMIM:612394
HP:0012372	Abnormal eye morphology	79955	PDZD7	ORPHA:231178
HP:0012372	Abnormal eye morphology	4647	MYO7A	ORPHA:231178
HP:0012372	Abnormal eye morphology	4647	MYO7A	ORPHA:231169
HP:0012372	Abnormal eye morphology	25861	WHRN	ORPHA:231178
HP:0012372	Abnormal eye morphology	84059	ADGRV1	ORPHA:231178
HP:0012372	Abnormal eye morphology	3704	ITPA	OMIM:616647
HP:0012372	Abnormal eye morphology	28957	MRPS28	OMIM:618958
HP:0012372	Abnormal eye morphology	54676	GTPBP2	OMIM:617988
HP:0012372	Abnormal eye morphology	100506658	OCLN	OMIM:251290
HP:0012372	Abnormal eye morphology	617	BCS1L	OMIM:124000
HP:0012372	Abnormal eye morphology	22901	ARSG	ORPHA:231183
HP:0012372	Abnormal eye morphology	4575	MT-TS2	ORPHA:231183
HP:0012372	Abnormal eye morphology	3035	HARS1	ORPHA:231183
HP:0012372	Abnormal eye morphology	84131	CEP78	ORPHA:231183
HP:0012372	Abnormal eye morphology	10558	SPTLC1	OMIM:162400
HP:0012372	Abnormal eye morphology	1376	CPT2	OMIM:608836
HP:0012372	Abnormal eye morphology	59341	TRPV4	ORPHA:2635
HP:0012372	Abnormal eye morphology	4668	NAGA	ORPHA:79281
HP:0012372	Abnormal eye morphology	9130	FAM50A	OMIM:300261
HP:0012372	Abnormal eye morphology	64072	CDH23	ORPHA:231169
HP:0012372	Abnormal eye morphology	10083	USH1C	ORPHA:231169
HP:0012372	Abnormal eye morphology	124590	USH1G	ORPHA:231169
HP:0012372	Abnormal eye morphology	83715	ESPN	ORPHA:231169
HP:0012372	Abnormal eye morphology	10518	CIB2	ORPHA:231169
HP:0012372	Abnormal eye morphology	65217	PCDH15	ORPHA:231169
HP:0012372	Abnormal eye morphology	80169	CTC1	ORPHA:1775
HP:0012372	Abnormal eye morphology	26277	TINF2	ORPHA:1775
HP:0012372	Abnormal eye morphology	55651	NHP2	ORPHA:1775
HP:0012372	Abnormal eye morphology	55135	WRAP53	ORPHA:1775
HP:0012372	Abnormal eye morphology	51750	RTEL1	ORPHA:1775
HP:0012372	Abnormal eye morphology	4869	NPM1	ORPHA:1775
HP:0012372	Abnormal eye morphology	7012	TERC	ORPHA:1775
HP:0012372	Abnormal eye morphology	5073	PARN	ORPHA:1775
HP:0012372	Abnormal eye morphology	7298	TYMS	ORPHA:1775
HP:0012372	Abnormal eye morphology	51763	INPP5K	OMIM:617404
HP:0012372	Abnormal eye morphology	55654	TMEM127	OMIM:171300
HP:0012372	Abnormal eye morphology	7428	VHL	OMIM:171300
HP:0012372	Abnormal eye morphology	1417	CRYBB3	OMIM:609741
HP:0012372	Abnormal eye morphology	10093	ARPC4	OMIM:620141
HP:0012372	Abnormal eye morphology	1411	CRYBA1	OMIM:600881
HP:0012372	Abnormal eye morphology	23094	SIPA1L3	OMIM:616851
HP:0012372	Abnormal eye morphology	10073	SNUPN	OMIM:620793
HP:0012372	Abnormal eye morphology	3417	IDH1	ORPHA:99646
HP:0012372	Abnormal eye morphology	4574	MT-TS1	OMIM:540000
HP:0012372	Abnormal eye morphology	4535	MT-ND1	OMIM:540000
HP:0012372	Abnormal eye morphology	4567	MT-TL1	OMIM:540000
HP:0012372	Abnormal eye morphology	4512	MT-CO1	OMIM:540000
HP:0012372	Abnormal eye morphology	4513	MT-CO2	OMIM:540000
HP:0012372	Abnormal eye morphology	4514	MT-CO3	OMIM:540000
HP:0012372	Abnormal eye morphology	4511	MT-TC	OMIM:540000
HP:0012372	Abnormal eye morphology	4572	MT-TQ	OMIM:540000
HP:0012372	Abnormal eye morphology	4577	MT-TV	OMIM:540000
HP:0012372	Abnormal eye morphology	4578	MT-TW	OMIM:540000
HP:0012372	Abnormal eye morphology	4558	MT-TF	OMIM:540000
HP:0012372	Abnormal eye morphology	4566	MT-TK	OMIM:540000
HP:0012372	Abnormal eye morphology	4540	MT-ND5	OMIM:540000
HP:0012372	Abnormal eye morphology	4541	MT-ND6	OMIM:540000
HP:0012372	Abnormal eye morphology	57589	RIC1	OMIM:618761
HP:0012372	Abnormal eye morphology	20	ABCA2	OMIM:618808
HP:0012372	Abnormal eye morphology	22872	SEC31A	OMIM:618651
HP:0012372	Abnormal eye morphology	84668	HYCC1	OMIM:610532
HP:0012372	Abnormal eye morphology	84668	HYCC1	ORPHA:85163
HP:0012372	Abnormal eye morphology	5702	PSMC3	OMIM:619354
HP:0012372	Abnormal eye morphology	389692	MAFA	OMIM:147630
HP:0012372	Abnormal eye morphology	8419	BFSP2	OMIM:611597
HP:0012372	Abnormal eye morphology	58508	KMT2C	ORPHA:261652
HP:0012372	Abnormal eye morphology	953	ENTPD1	OMIM:615683
HP:0012372	Abnormal eye morphology	2651	GCNT2	OMIM:116700
HP:0012372	Abnormal eye morphology	3739	KCNA4	OMIM:618284
HP:0012372	Abnormal eye morphology	9197	SLC33A1	OMIM:614482
HP:0012372	Abnormal eye morphology	5286	PIK3C2A	OMIM:618440
HP:0012372	Abnormal eye morphology	5286	PIK3C2A	ORPHA:557003
HP:0012372	Abnormal eye morphology	1419	CRYGB	OMIM:615188
HP:0012372	Abnormal eye morphology	6307	MSMO1	OMIM:616834
HP:0012372	Abnormal eye morphology	2110	ETFDH	OMIM:231680
HP:0012372	Abnormal eye morphology	2108	ETFA	OMIM:231680
HP:0012372	Abnormal eye morphology	2109	ETFB	OMIM:231680
HP:0012372	Abnormal eye morphology	64682	ANAPC1	ORPHA:221008
HP:0012372	Abnormal eye morphology	3763	KCNJ6	ORPHA:435628
HP:0012372	Abnormal eye morphology	3763	KCNJ6	OMIM:614098
HP:0012372	Abnormal eye morphology	4287	ATXN3	OMIM:109150
HP:0012372	Abnormal eye morphology	4287	ATXN3	ORPHA:276238
HP:0012372	Abnormal eye morphology	4287	ATXN3	ORPHA:276244
HP:0012372	Abnormal eye morphology	4287	ATXN3	ORPHA:276241
HP:0012372	Abnormal eye morphology	28981	IFT81	OMIM:617895
HP:0012372	Abnormal eye morphology	775	CACNA1C	OMIM:620029
HP:0012372	Abnormal eye morphology	7068	THRB	OMIM:274300
HP:0012372	Abnormal eye morphology	10978	CLP1	OMIM:615803
HP:0012372	Abnormal eye morphology	10978	CLP1	ORPHA:411493
HP:0012372	Abnormal eye morphology	64175	P3H1	OMIM:610915
HP:0012372	Abnormal eye morphology	6452	SH3BP2	OMIM:118400
HP:0012372	Abnormal eye morphology	6452	SH3BP2	ORPHA:184
HP:0012372	Abnormal eye morphology	7040	TGFB1	OMIM:131300
HP:0012372	Abnormal eye morphology	7040	TGFB1	ORPHA:1328
HP:0012372	Abnormal eye morphology	4524	MTHFR	ORPHA:563612
HP:0012372	Abnormal eye morphology	57216	VANGL2	ORPHA:563612
HP:0012372	Abnormal eye morphology	5424	POLD1	OMIM:615381
HP:0012372	Abnormal eye morphology	267010	RNU12	ORPHA:85199
HP:0012372	Abnormal eye morphology	26154	ABCA12	OMIM:242500
HP:0012372	Abnormal eye morphology	54914	FOCAD	OMIM:619991
HP:0012372	Abnormal eye morphology	4771	NF2	ORPHA:2495
HP:0012372	Abnormal eye morphology	6598	SMARCB1	ORPHA:2495
HP:0012372	Abnormal eye morphology	5155	PDGFB	ORPHA:2495
HP:0012372	Abnormal eye morphology	7015	TERT	ORPHA:2495
HP:0012372	Abnormal eye morphology	6605	SMARCE1	ORPHA:2495
HP:0012372	Abnormal eye morphology	150468	CKAP2L	OMIM:272440
HP:0012372	Abnormal eye morphology	54928	BPNT2	OMIM:614078
HP:0012372	Abnormal eye morphology	23414	ZFPM2	OMIM:187500
HP:0012372	Abnormal eye morphology	23414	ZFPM2	ORPHA:3303
HP:0012372	Abnormal eye morphology	1028	CDKN1C	OMIM:130650
HP:0012372	Abnormal eye morphology	3784	KCNQ1	OMIM:130650
HP:0012372	Abnormal eye morphology	10984	KCNQ1OT1	OMIM:130650
HP:0012372	Abnormal eye morphology	28962	OSTM1	OMIM:259720
HP:0012372	Abnormal eye morphology	58497	PRUNE1	OMIM:617481
HP:0012372	Abnormal eye morphology	78987	CRELD1	OMIM:620771
HP:0012372	Abnormal eye morphology	2335	FN1	ORPHA:93315
HP:0012372	Abnormal eye morphology	79903	NAA60	OMIM:620786
HP:0012372	Abnormal eye morphology	90459	ERI1	OMIM:620663
HP:0012372	Abnormal eye morphology	3791	KDR	ORPHA:3303
HP:0012372	Abnormal eye morphology	2657	GDF1	ORPHA:3303
HP:0012372	Abnormal eye morphology	140628	GATA5	ORPHA:3303
HP:0012372	Abnormal eye morphology	2324	FLT4	ORPHA:3303
HP:0012372	Abnormal eye morphology	10370	CITED2	ORPHA:3303
HP:0012372	Abnormal eye morphology	221496	LEMD2	OMIM:619322
HP:0012372	Abnormal eye morphology	10735	STAG2	OMIM:301022
HP:0012372	Abnormal eye morphology	4052	LTBP1	OMIM:619451
HP:0012372	Abnormal eye morphology	8120	AP3B2	OMIM:617276
HP:0012372	Abnormal eye morphology	1781	DYNC1I2	OMIM:618492
HP:0012372	Abnormal eye morphology	9419	CRIPT	OMIM:615789
HP:0012372	Abnormal eye morphology	84265	POLR3GL	OMIM:619234
HP:0012372	Abnormal eye morphology	91461	PKDCC	OMIM:618821
HP:0012372	Abnormal eye morphology	2254	FGF9	OMIM:612961
HP:0012372	Abnormal eye morphology	10651	MTX2	OMIM:619127
HP:0012372	Abnormal eye morphology	8318	CDC45	OMIM:617063
HP:0012372	Abnormal eye morphology	55755	CDK5RAP2	OMIM:604804
HP:0012372	Abnormal eye morphology	23516	SLC39A14	OMIM:144755
HP:0012372	Abnormal eye morphology	259266	ASPM	OMIM:608716
HP:0012372	Abnormal eye morphology	8815	BANF1	OMIM:614008
HP:0012372	Abnormal eye morphology	27445	PCLO	OMIM:608027
HP:0012372	Abnormal eye morphology	238	ALK	ORPHA:635
HP:0012372	Abnormal eye morphology	389421	LIN28B	ORPHA:635
HP:0012372	Abnormal eye morphology	4004	LMO1	ORPHA:635
HP:0012372	Abnormal eye morphology	8929	PHOX2B	ORPHA:635
HP:0012372	Abnormal eye morphology	51099	ABHD5	ORPHA:98907
HP:0012372	Abnormal eye morphology	51099	ABHD5	OMIM:275630
HP:0012372	Abnormal eye morphology	3978	LIG1	OMIM:619774
HP:0012372	Abnormal eye morphology	23328	SASH1	OMIM:618373
HP:0012372	Abnormal eye morphology	4683	NBN	OMIM:251260
HP:0012372	Abnormal eye morphology	472	ATM	OMIM:208900
HP:0012372	Abnormal eye morphology	23064	SETX	OMIM:606002
HP:0012372	Abnormal eye morphology	165918	RNF168	ORPHA:420741
HP:0012372	Abnormal eye morphology	2202	EFEMP1	ORPHA:98977
HP:0012372	Abnormal eye morphology	1545	CYP1B1	ORPHA:98977
HP:0012372	Abnormal eye morphology	4653	MYOC	ORPHA:98977
HP:0012372	Abnormal eye morphology	4629	MYH11	ORPHA:91387
HP:0012372	Abnormal eye morphology	7046	TGFBR1	ORPHA:91387
HP:0012372	Abnormal eye morphology	7048	TGFBR2	ORPHA:91387
HP:0012372	Abnormal eye morphology	4015	LOX	ORPHA:91387
HP:0012372	Abnormal eye morphology	4087	SMAD2	ORPHA:91387
HP:0012372	Abnormal eye morphology	7043	TGFB3	ORPHA:91387
HP:0012372	Abnormal eye morphology	4088	SMAD3	ORPHA:91387
HP:0012372	Abnormal eye morphology	7042	TGFB2	ORPHA:91387
HP:0012372	Abnormal eye morphology	4089	SMAD4	ORPHA:91387
HP:0012372	Abnormal eye morphology	2200	FBN1	ORPHA:91387
HP:0012372	Abnormal eye morphology	59	ACTA2	ORPHA:91387
HP:0012372	Abnormal eye morphology	5592	PRKG1	ORPHA:91387
HP:0012372	Abnormal eye morphology	4144	MAT2A	ORPHA:91387
HP:0012372	Abnormal eye morphology	23493	HEY2	ORPHA:91387
HP:0012372	Abnormal eye morphology	8076	MFAP5	ORPHA:91387
HP:0012372	Abnormal eye morphology	4638	MYLK	ORPHA:91387
HP:0012372	Abnormal eye morphology	79875	THSD4	ORPHA:91387
HP:0012372	Abnormal eye morphology	2006	ELN	ORPHA:91387
HP:0012372	Abnormal eye morphology	2697	GJA1	ORPHA:2710
HP:0012372	Abnormal eye morphology	197257	LDHD	OMIM:245450
HP:0012372	Abnormal eye morphology	1750	DLX6	ORPHA:2440
HP:0012372	Abnormal eye morphology	7979	SEM1	ORPHA:2440
HP:0012372	Abnormal eye morphology	8945	BTRC	ORPHA:2440
HP:0012372	Abnormal eye morphology	58513	EPS15L1	ORPHA:2440
HP:0012372	Abnormal eye morphology	6468	FBXW4	ORPHA:2440
HP:0012372	Abnormal eye morphology	7480	WNT10B	ORPHA:2440
HP:0012372	Abnormal eye morphology	1749	DLX5	ORPHA:2440
HP:0012372	Abnormal eye morphology	5978	REST	ORPHA:654
HP:0012372	Abnormal eye morphology	10155	TRIM28	ORPHA:654
HP:0012372	Abnormal eye morphology	11281	POU6F2	ORPHA:654
HP:0012372	Abnormal eye morphology	283120	H19	ORPHA:654
HP:0012372	Abnormal eye morphology	341640	FREM2	ORPHA:2052
HP:0012372	Abnormal eye morphology	80144	FRAS1	ORPHA:2052
HP:0012372	Abnormal eye morphology	80144	FRAS1	OMIM:219000
HP:0012372	Abnormal eye morphology	23426	GRIP1	ORPHA:2052
HP:0012372	Abnormal eye morphology	85440	DOCK7	ORPHA:411986
HP:0012372	Abnormal eye morphology	64220	STRA6	OMIM:601186
HP:0012372	Abnormal eye morphology	64220	STRA6	ORPHA:2470
HP:0012372	Abnormal eye morphology	158326	FREM1	OMIM:248450
HP:0012372	Abnormal eye morphology	158326	FREM1	ORPHA:2717
HP:0012372	Abnormal eye morphology	3832	KIF11	ORPHA:2526
HP:0012372	Abnormal eye morphology	5915	RARB	OMIM:615524
HP:0012372	Abnormal eye morphology	5915	RARB	ORPHA:2470
HP:0012372	Abnormal eye morphology	64093	SMOC1	OMIM:206920
HP:0012372	Abnormal eye morphology	2187	FANCB	ORPHA:3412
HP:0012372	Abnormal eye morphology	7477	WNT7B	ORPHA:2470
HP:0012372	Abnormal eye morphology	81788	NUAK2	OMIM:619452
HP:0012372	Abnormal eye morphology	84314	TMEM107	ORPHA:564
HP:0012372	Abnormal eye morphology	79770	TXNDC15	ORPHA:564
HP:0012372	Abnormal eye morphology	3030	HADHA	ORPHA:5
HP:0012372	Abnormal eye morphology	55670	PEX26	ORPHA:912
HP:0012372	Abnormal eye morphology	5824	PEX19	ORPHA:912
HP:0012372	Abnormal eye morphology	8799	PEX11B	ORPHA:912
HP:0012372	Abnormal eye morphology	9409	PEX16	ORPHA:912
HP:0012372	Abnormal eye morphology	5193	PEX12	ORPHA:912
HP:0012372	Abnormal eye morphology	5194	PEX13	ORPHA:912
HP:0012372	Abnormal eye morphology	5195	PEX14	ORPHA:912
HP:0012372	Abnormal eye morphology	5192	PEX10	ORPHA:912
HP:0012372	Abnormal eye morphology	5456	POU3F4	ORPHA:1435
HP:0012372	Abnormal eye morphology	286053	NSMCE2	OMIM:617253
HP:0012372	Abnormal eye morphology	286053	NSMCE2	ORPHA:436182
HP:0012372	Abnormal eye morphology	79087	ALG12	OMIM:607143
HP:0012372	Abnormal eye morphology	79087	ALG12	ORPHA:79324
HP:0012372	Abnormal eye morphology	8974	P4HA2	OMIM:617238
HP:0012372	Abnormal eye morphology	23769	FLRT1	ORPHA:320406
HP:0012372	Abnormal eye morphology	64837	KLC2	ORPHA:320406
HP:0012372	Abnormal eye morphology	64837	KLC2	OMIM:609541
HP:0012372	Abnormal eye morphology	2895	GRID2	OMIM:616204
HP:0012372	Abnormal eye morphology	7167	TPI1	OMIM:615512
HP:0012372	Abnormal eye morphology	123263	MTFMT	OMIM:614947
HP:0012372	Abnormal eye morphology	6687	SPG7	ORPHA:99013
HP:0012372	Abnormal eye morphology	6809	STX3	OMIM:619446
HP:0012372	Abnormal eye morphology	8566	PDXK	OMIM:618511
HP:0012372	Abnormal eye morphology	84816	RTN4IP1	OMIM:616732
HP:0012372	Abnormal eye morphology	9179	AP4M1	OMIM:612936
HP:0012372	Abnormal eye morphology	54471	MIEF1	OMIM:620550
HP:0012372	Abnormal eye morphology	4718	NDUFC2	OMIM:619170
HP:0012372	Abnormal eye morphology	84340	GFM2	ORPHA:565624
HP:0012372	Abnormal eye morphology	64834	ELOVL1	OMIM:618527
HP:0012372	Abnormal eye morphology	54664	TMEM106B	OMIM:617964
HP:0012372	Abnormal eye morphology	9927	MFN2	OMIM:601152
HP:0012372	Abnormal eye morphology	9927	MFN2	OMIM:617087
HP:0012372	Abnormal eye morphology	149371	EXOC8	OMIM:619076
HP:0012372	Abnormal eye morphology	1861	TOR1A	OMIM:618947
HP:0012372	Abnormal eye morphology	90624	LYRM7	OMIM:615838
HP:0012372	Abnormal eye morphology	3748	KCNC3	ORPHA:98768
HP:0012372	Abnormal eye morphology	27349	MCAT	OMIM:620583
HP:0012372	Abnormal eye morphology	56947	MFF	ORPHA:485421
HP:0012372	Abnormal eye morphology	56947	MFF	OMIM:617086
HP:0012372	Abnormal eye morphology	3187	HNRNPH1	OMIM:620083
HP:0012372	Abnormal eye morphology	2055	CLN8	ORPHA:1947
HP:0012372	Abnormal eye morphology	84233	TMEM126A	OMIM:612989
HP:0012372	Abnormal eye morphology	55331	ACER3	OMIM:617762
HP:0012372	Abnormal eye morphology	10939	AFG3L2	OMIM:618977
HP:0012372	Abnormal eye morphology	6310	ATXN1	OMIM:164400
HP:0012372	Abnormal eye morphology	10681	GNB5	OMIM:617173
HP:0012372	Abnormal eye morphology	10681	GNB5	ORPHA:542306
HP:0012372	Abnormal eye morphology	3028	HSD17B10	OMIM:300438
HP:0012372	Abnormal eye morphology	3028	HSD17B10	ORPHA:391428
HP:0012372	Abnormal eye morphology	1356	CP	OMIM:604290
HP:0012372	Abnormal eye morphology	1356	CP	ORPHA:48818
HP:0012372	Abnormal eye morphology	338	APOB	OMIM:615558
HP:0012372	Abnormal eye morphology	10283	CWC27	OMIM:250410
HP:0012372	Abnormal eye morphology	10283	CWC27	ORPHA:166035
HP:0012372	Abnormal eye morphology	54982	CLN6	OMIM:601780
HP:0012372	Abnormal eye morphology	23503	ZFYVE26	OMIM:270700
HP:0012372	Abnormal eye morphology	1200	TPP1	OMIM:204500
HP:0012372	Abnormal eye morphology	284086	NEK8	OMIM:613824
HP:0012372	Abnormal eye morphology	80208	SPG11	OMIM:604360
HP:0012372	Abnormal eye morphology	80208	SPG11	ORPHA:2822
HP:0012372	Abnormal eye morphology	5538	PPT1	OMIM:256730
HP:0012372	Abnormal eye morphology	10560	SLC19A2	OMIM:249270
HP:0012372	Abnormal eye morphology	1203	CLN5	OMIM:256731
HP:0012372	Abnormal eye morphology	54148	MRPL39	OMIM:620646
HP:0012372	Abnormal eye morphology	23761	PISD	OMIM:618889
HP:0012372	Abnormal eye morphology	1737	DLAT	ORPHA:79244
HP:0012372	Abnormal eye morphology	3737	KCNA2	ORPHA:442835
HP:0012372	Abnormal eye morphology	1759	DNM1	ORPHA:442835
HP:0012372	Abnormal eye morphology	10991	SLC38A3	ORPHA:442835
HP:0012372	Abnormal eye morphology	51343	FZR1	ORPHA:442835
HP:0012372	Abnormal eye morphology	3747	KCNC2	ORPHA:442835
HP:0012372	Abnormal eye morphology	23219	FBXO28	ORPHA:442835
HP:0012372	Abnormal eye morphology	2561	GABRB2	ORPHA:442835
HP:0012372	Abnormal eye morphology	2558	GABRA5	ORPHA:442835
HP:0012372	Abnormal eye morphology	2906	GRIN2D	ORPHA:442835
HP:0012372	Abnormal eye morphology	1213	CLTC	ORPHA:442835
HP:0012372	Abnormal eye morphology	23334	SZT2	ORPHA:442835
HP:0012372	Abnormal eye morphology	348980	HCN1	ORPHA:442835
HP:0012372	Abnormal eye morphology	25977	NECAP1	ORPHA:442835
HP:0012372	Abnormal eye morphology	6334	SCN8A	ORPHA:442835
HP:0012372	Abnormal eye morphology	9568	GABBR2	ORPHA:442835
HP:0012372	Abnormal eye morphology	2555	GABRA2	ORPHA:442835
HP:0012372	Abnormal eye morphology	55152	DALRD3	ORPHA:442835
HP:0012372	Abnormal eye morphology	26999	CYFIP2	ORPHA:442835
HP:0012372	Abnormal eye morphology	4915	NTRK2	ORPHA:442835
HP:0012372	Abnormal eye morphology	478	ATP1A3	ORPHA:442835
HP:0012372	Abnormal eye morphology	22906	TRAK1	ORPHA:442835
HP:0012372	Abnormal eye morphology	2566	GABRG2	ORPHA:442835
HP:0012372	Abnormal eye morphology	7532	YWHAG	ORPHA:442835
HP:0012372	Abnormal eye morphology	6328	SCN3A	ORPHA:442835
HP:0012372	Abnormal eye morphology	781	CACNA2D1	ORPHA:442835
HP:0012372	Abnormal eye morphology	10659	CELF2	ORPHA:442835
HP:0012372	Abnormal eye morphology	774	CACNA1B	ORPHA:442835
HP:0012372	Abnormal eye morphology	2290	FOXG1	ORPHA:442835
HP:0012372	Abnormal eye morphology	6506	SLC1A2	ORPHA:442835
HP:0012372	Abnormal eye morphology	8867	SYNJ1	ORPHA:442835
HP:0012372	Abnormal eye morphology	477	ATP1A2	ORPHA:442835
HP:0012372	Abnormal eye morphology	3745	KCNB1	ORPHA:442835
HP:0012372	Abnormal eye morphology	284111	SLC13A5	ORPHA:442835
HP:0012372	Abnormal eye morphology	22866	CNKSR2	ORPHA:442835
HP:0012372	Abnormal eye morphology	773	CACNA1A	ORPHA:442835
HP:0012372	Abnormal eye morphology	80216	ALPK1	OMIM:614979
HP:0012372	Abnormal eye morphology	3423	IDS	ORPHA:217085
HP:0012372	Abnormal eye morphology	3423	IDS	ORPHA:217093
HP:0012372	Abnormal eye morphology	355	FAS	ORPHA:3261
HP:0012372	Abnormal eye morphology	355	FAS	ORPHA:3437
HP:0012372	Abnormal eye morphology	356	FASLG	ORPHA:3261
HP:0012372	Abnormal eye morphology	843	CASP10	ORPHA:3261
HP:0012372	Abnormal eye morphology	6775	STAT4	ORPHA:85410
HP:0012372	Abnormal eye morphology	6775	STAT4	ORPHA:85408
HP:0012372	Abnormal eye morphology	3560	IL2RB	ORPHA:85410
HP:0012372	Abnormal eye morphology	3560	IL2RB	ORPHA:85408
HP:0012372	Abnormal eye morphology	79722	ANKRD55	ORPHA:85410
HP:0012372	Abnormal eye morphology	79722	ANKRD55	ORPHA:85408
HP:0012372	Abnormal eye morphology	26191	PTPN22	ORPHA:85410
HP:0012372	Abnormal eye morphology	26191	PTPN22	ORPHA:85408
HP:0012372	Abnormal eye morphology	26191	PTPN22	ORPHA:3437
HP:0012372	Abnormal eye morphology	919	CD247	ORPHA:85410
HP:0012372	Abnormal eye morphology	919	CD247	ORPHA:85408
HP:0012372	Abnormal eye morphology	3559	IL2RA	ORPHA:85410
HP:0012372	Abnormal eye morphology	3559	IL2RA	ORPHA:85408
HP:0012372	Abnormal eye morphology	5771	PTPN2	ORPHA:85410
HP:0012372	Abnormal eye morphology	5771	PTPN2	ORPHA:85408
HP:0012372	Abnormal eye morphology	987	LRBA	OMIM:614700
HP:0012372	Abnormal eye morphology	1776	DNASE1L3	ORPHA:36412
HP:0012372	Abnormal eye morphology	1161	ERCC8	ORPHA:90321
HP:0012372	Abnormal eye morphology	1161	ERCC8	ORPHA:90322
HP:0012372	Abnormal eye morphology	2074	ERCC6	ORPHA:90321
HP:0012372	Abnormal eye morphology	2074	ERCC6	ORPHA:90322
HP:0012372	Abnormal eye morphology	2067	ERCC1	ORPHA:90322
HP:0012372	Abnormal eye morphology	8517	IKBKG	ORPHA:464
HP:0012372	Abnormal eye morphology	8517	IKBKG	OMIM:308300
HP:0012372	Abnormal eye morphology	331	XIAP	ORPHA:538934
HP:0012372	Abnormal eye morphology	3106	HLA-B	ORPHA:29207
HP:0012372	Abnormal eye morphology	726	CAPN5	OMIM:193235
HP:0012372	Abnormal eye morphology	130340	AP1S3	ORPHA:247353
HP:0012372	Abnormal eye morphology	26525	IL36RN	ORPHA:247353
HP:0012372	Abnormal eye morphology	939	CD27	OMIM:615122
HP:0012372	Abnormal eye morphology	22861	NLRP1	OMIM:617388
HP:0012372	Abnormal eye morphology	3662	IRF4	ORPHA:3452
HP:0012372	Abnormal eye morphology	7132	TNFRSF1A	ORPHA:32960
HP:0012372	Abnormal eye morphology	114548	NLRP3	OMIM:607115
HP:0012372	Abnormal eye morphology	114548	NLRP3	ORPHA:575
HP:0012372	Abnormal eye morphology	114548	NLRP3	ORPHA:1451
HP:0012372	Abnormal eye morphology	114548	NLRP3	OMIM:120100
HP:0012372	Abnormal eye morphology	7086	TKT	ORPHA:488618
HP:0012372	Abnormal eye morphology	7086	TKT	OMIM:617044
HP:0012372	Abnormal eye morphology	3123	HLA-DRB1	OMIM:181000
HP:0012372	Abnormal eye morphology	3123	HLA-DRB1	ORPHA:797
HP:0012372	Abnormal eye morphology	51360	MBTPS2	ORPHA:2273
HP:0012372	Abnormal eye morphology	2859	GPR35	ORPHA:171
HP:0012372	Abnormal eye morphology	10507	SEMA4D	ORPHA:171
HP:0012372	Abnormal eye morphology	4485	MST1	ORPHA:171
HP:0012372	Abnormal eye morphology	6925	TCF4	ORPHA:171
HP:0012372	Abnormal eye morphology	56244	BTNL2	OMIM:612387
HP:0012372	Abnormal eye morphology	56244	BTNL2	ORPHA:797
HP:0012372	Abnormal eye morphology	641	BLM	ORPHA:125
HP:0012372	Abnormal eye morphology	64127	NOD2	OMIM:186580
HP:0012372	Abnormal eye morphology	64127	NOD2	OMIM:617321
HP:0012372	Abnormal eye morphology	84181	CHD6	ORPHA:2108
HP:0012372	Abnormal eye morphology	3708	ITPR1	OMIM:117360
HP:0012372	Abnormal eye morphology	151188	ARL6IP6	ORPHA:1556
HP:0012372	Abnormal eye morphology	2896	GRN	OMIM:614706
HP:0012372	Abnormal eye morphology	50	ACO2	OMIM:614559
HP:0012372	Abnormal eye morphology	51010	EXOSC3	OMIM:614678
HP:0012372	Abnormal eye morphology	9445	ITM2B	OMIM:616079
HP:0012372	Abnormal eye morphology	5230	PGK1	ORPHA:713
HP:0012372	Abnormal eye morphology	5230	PGK1	OMIM:300653
HP:0012372	Abnormal eye morphology	55213	RCBTB1	OMIM:617175
HP:0012372	Abnormal eye morphology	92002	CCNQ	ORPHA:140952
HP:0012372	Abnormal eye morphology	284217	LAMA1	OMIM:615960
HP:0012372	Abnormal eye morphology	284217	LAMA1	ORPHA:370022
HP:0012372	Abnormal eye morphology	2530	FUT8	OMIM:618005
HP:0012372	Abnormal eye morphology	92949	ADAMTSL1	ORPHA:521445
HP:0012372	Abnormal eye morphology	85446	ZFHX2	OMIM:147430
HP:0012372	Abnormal eye morphology	59335	PRDM12	OMIM:616488
HP:0012372	Abnormal eye morphology	4358	MPV17	OMIM:256810
HP:0012372	Abnormal eye morphology	667	DST	OMIM:614653
HP:0012372	Abnormal eye morphology	60	ACTB	OMIM:243310
HP:0012372	Abnormal eye morphology	9935	MAFB	ORPHA:233
HP:0012372	Abnormal eye morphology	1123	CHN1	ORPHA:233
HP:0012372	Abnormal eye morphology	64840	PORCN	OMIM:305600
HP:0012372	Abnormal eye morphology	64840	PORCN	ORPHA:2092
HP:0012372	Abnormal eye morphology	8260	NAA10	OMIM:309800
HP:0012372	Abnormal eye morphology	8260	NAA10	ORPHA:568
HP:0012372	Abnormal eye morphology	51259	TMEM216	OMIM:608091
HP:0012372	Abnormal eye morphology	51259	TMEM216	ORPHA:2318
HP:0012372	Abnormal eye morphology	10413	YAP1	OMIM:120433
HP:0012372	Abnormal eye morphology	10413	YAP1	ORPHA:1473
HP:0012372	Abnormal eye morphology	207	AKT1	ORPHA:744
HP:0012372	Abnormal eye morphology	79759	ZNF668	OMIM:620194
HP:0012372	Abnormal eye morphology	6299	SALL1	OMIM:107480
HP:0012372	Abnormal eye morphology	6299	SALL1	ORPHA:857
HP:0012372	Abnormal eye morphology	64412	GZF1	OMIM:617662
HP:0012372	Abnormal eye morphology	3149	HMGB3	OMIM:300915
HP:0012372	Abnormal eye morphology	4149	MAX	OMIM:620712
HP:0012372	Abnormal eye morphology	51339	DACT1	ORPHA:857
HP:0012372	Abnormal eye morphology	113246	C12orf57	OMIM:218340
HP:0012372	Abnormal eye morphology	51322	WAC	ORPHA:284169
HP:0012372	Abnormal eye morphology	57020	VPS35L	OMIM:619135
HP:0012372	Abnormal eye morphology	57020	VPS35L	ORPHA:7
HP:0012372	Abnormal eye morphology	149461	CLDN19	ORPHA:2196
HP:0012372	Abnormal eye morphology	55733	HHAT	ORPHA:1422
HP:0012372	Abnormal eye morphology	8777	MPDZ	OMIM:615219
HP:0012372	Abnormal eye morphology	5950	RBP4	OMIM:616428
HP:0012372	Abnormal eye morphology	79583	TMEM231	ORPHA:2318
HP:0012372	Abnormal eye morphology	23090	ZNF423	ORPHA:2318
HP:0012372	Abnormal eye morphology	6496	SIX3	OMIM:157170
HP:0012372	Abnormal eye morphology	28952	CCDC22	ORPHA:7
HP:0012372	Abnormal eye morphology	56896	DPYSL5	ORPHA:7
HP:0012372	Abnormal eye morphology	23322	RPGRIP1L	ORPHA:1454
HP:0012372	Abnormal eye morphology	10682	EBP	ORPHA:401973
HP:0012372	Abnormal eye morphology	10682	EBP	ORPHA:35173
HP:0012372	Abnormal eye morphology	10682	EBP	OMIM:302960
HP:0012372	Abnormal eye morphology	1763	DNA2	OMIM:620819
HP:0012372	Abnormal eye morphology	83700	JAM3	OMIM:613730
HP:0012372	Abnormal eye morphology	23556	PIGN	ORPHA:2059
HP:0012372	Abnormal eye morphology	81857	MED25	OMIM:616449
HP:0012372	Abnormal eye morphology	81857	MED25	ORPHA:464738
HP:0012372	Abnormal eye morphology	84942	WDR73	OMIM:251300
HP:0012372	Abnormal eye morphology	55209	SETD5	ORPHA:404440
HP:0012372	Abnormal eye morphology	9401	RECQL4	OMIM:268400
HP:0012372	Abnormal eye morphology	146167	SLC38A8	OMIM:609218
HP:0012372	Abnormal eye morphology	5932	RBBP8	OMIM:606744
HP:0012372	Abnormal eye morphology	2175	FANCA	OMIM:227650
HP:0012372	Abnormal eye morphology	2175	FANCA	ORPHA:84
HP:0012372	Abnormal eye morphology	27229	TUBGCP4	OMIM:616335
HP:0012372	Abnormal eye morphology	25914	RTTN	OMIM:614833
HP:0012372	Abnormal eye morphology	9968	MED12	ORPHA:2728
HP:0012372	Abnormal eye morphology	9968	MED12	OMIM:300895
HP:0012372	Abnormal eye morphology	2188	FANCF	OMIM:603467
HP:0012372	Abnormal eye morphology	2188	FANCF	ORPHA:84
HP:0012372	Abnormal eye morphology	84987	COX14	OMIM:619053
HP:0012372	Abnormal eye morphology	54543	TOMM7	OMIM:620601
HP:0012372	Abnormal eye morphology	672	BRCA1	ORPHA:84
HP:0012372	Abnormal eye morphology	672	BRCA1	OMIM:617883
HP:0012372	Abnormal eye morphology	10459	MAD2L2	ORPHA:84
HP:0012372	Abnormal eye morphology	7516	XRCC2	ORPHA:84
HP:0012372	Abnormal eye morphology	29089	UBE2T	ORPHA:84
HP:0012372	Abnormal eye morphology	675	BRCA2	ORPHA:84
HP:0012372	Abnormal eye morphology	55120	FANCL	ORPHA:84
HP:0012372	Abnormal eye morphology	55120	FANCL	OMIM:614083
HP:0012372	Abnormal eye morphology	2177	FANCD2	ORPHA:84
HP:0012372	Abnormal eye morphology	2177	FANCD2	OMIM:227646
HP:0012372	Abnormal eye morphology	2176	FANCC	ORPHA:84
HP:0012372	Abnormal eye morphology	2176	FANCC	OMIM:227645
HP:0012372	Abnormal eye morphology	2178	FANCE	ORPHA:84
HP:0012372	Abnormal eye morphology	2178	FANCE	OMIM:600901
HP:0012372	Abnormal eye morphology	2189	FANCG	ORPHA:84
HP:0012372	Abnormal eye morphology	2189	FANCG	OMIM:614082
HP:0012372	Abnormal eye morphology	5888	RAD51	ORPHA:84
HP:0012372	Abnormal eye morphology	5888	RAD51	OMIM:617244
HP:0012372	Abnormal eye morphology	5889	RAD51C	ORPHA:84
HP:0012372	Abnormal eye morphology	55159	RFWD3	ORPHA:84
HP:0012372	Abnormal eye morphology	83990	BRIP1	ORPHA:84
HP:0012372	Abnormal eye morphology	83990	BRIP1	OMIM:609054
HP:0012372	Abnormal eye morphology	57697	FANCM	ORPHA:84
HP:0012372	Abnormal eye morphology	79728	PALB2	ORPHA:84
HP:0012372	Abnormal eye morphology	79728	PALB2	OMIM:610832
HP:0012372	Abnormal eye morphology	84464	SLX4	ORPHA:84
HP:0012372	Abnormal eye morphology	55215	FANCI	ORPHA:84
HP:0012372	Abnormal eye morphology	55215	FANCI	OMIM:609053
HP:0012372	Abnormal eye morphology	9896	FIG4	ORPHA:3472
HP:0012372	Abnormal eye morphology	55697	VAC14	ORPHA:3472
HP:0012372	Abnormal eye morphology	9184	BUB3	ORPHA:1052
HP:0012372	Abnormal eye morphology	699	BUB1	ORPHA:1052
HP:0012372	Abnormal eye morphology	9702	CEP57	ORPHA:1052
HP:0012372	Abnormal eye morphology	9319	TRIP13	ORPHA:1052
HP:0012372	Abnormal eye morphology	701	BUB1B	ORPHA:1052
HP:0012372	Abnormal eye morphology	56992	KIF15	OMIM:619981
HP:0012372	Abnormal eye morphology	63901	FAM111A	OMIM:602361
HP:0012372	Abnormal eye morphology	63901	FAM111A	OMIM:127000
HP:0012372	Abnormal eye morphology	26227	PHGDH	OMIM:256520
HP:0012372	Abnormal eye morphology	11081	KERA	OMIM:217300
HP:0012372	Abnormal eye morphology	56006	SMG9	OMIM:616920
HP:0012372	Abnormal eye morphology	4519	MT-CYB	ORPHA:137675
HP:0012372	Abnormal eye morphology	10013	HDAC6	ORPHA:163966
HP:0012372	Abnormal eye morphology	10013	HDAC6	OMIM:300863
HP:0012372	Abnormal eye morphology	4952	OCRL	OMIM:309000
HP:0012372	Abnormal eye morphology	4952	OCRL	ORPHA:534
HP:0012372	Abnormal eye morphology	23137	SMC5	OMIM:620185
HP:0012372	Abnormal eye morphology	79718	TBL1XR1	OMIM:602342
HP:0012372	Abnormal eye morphology	79718	TBL1XR1	ORPHA:487825
HP:0012372	Abnormal eye morphology	5159	PDGFRB	OMIM:601812
HP:0012372	Abnormal eye morphology	3913	LAMB2	OMIM:614199
HP:0012372	Abnormal eye morphology	3913	LAMB2	OMIM:609049
HP:0012372	Abnormal eye morphology	63895	PIEZO2	OMIM:248700
HP:0012372	Abnormal eye morphology	285203	EOGT	OMIM:615297
HP:0012372	Abnormal eye morphology	285203	EOGT	ORPHA:974
HP:0012372	Abnormal eye morphology	9928	KIF14	OMIM:617914
HP:0012372	Abnormal eye morphology	11023	VAX1	OMIM:614402
HP:0012372	Abnormal eye morphology	93426	SYCE1	OMIM:616947
HP:0012372	Abnormal eye morphology	6513	SLC2A1	ORPHA:1942
HP:0012372	Abnormal eye morphology	8831	SYNGAP1	ORPHA:1942
HP:0012372	Abnormal eye morphology	1173	AP2M1	ORPHA:1942
HP:0012372	Abnormal eye morphology	6323	SCN1A	ORPHA:1942
HP:0012372	Abnormal eye morphology	340533	NEXMIF	ORPHA:1942
HP:0012372	Abnormal eye morphology	1106	CHD2	ORPHA:1942
HP:0012372	Abnormal eye morphology	6529	SLC6A1	ORPHA:1942
HP:0012372	Abnormal eye morphology	404672	GTF2H5	OMIM:616395
HP:0012372	Abnormal eye morphology	54101	RIPK4	OMIM:263650
HP:0012372	Abnormal eye morphology	60529	ALX4	ORPHA:228390
HP:0012372	Abnormal eye morphology	60529	ALX4	OMIM:613451
HP:0012372	Abnormal eye morphology	2303	FOXC2	OMIM:153400
HP:0012372	Abnormal eye morphology	2702	GJA5	OMIM:612474
HP:0012372	Abnormal eye morphology	27152	INTU	OMIM:617925
HP:0012372	Abnormal eye morphology	3720	JARID2	OMIM:620098
HP:0012372	Abnormal eye morphology	2737	GLI3	ORPHA:672
HP:0012372	Abnormal eye morphology	2737	GLI3	OMIM:146510
HP:0012372	Abnormal eye morphology	160418	TMTC3	OMIM:617255
HP:0012372	Abnormal eye morphology	8092	ALX1	OMIM:613456
HP:0012372	Abnormal eye morphology	8092	ALX1	ORPHA:306542
HP:0012372	Abnormal eye morphology	170302	ARX	OMIM:308350
HP:0012372	Abnormal eye morphology	10733	PLK4	OMIM:616171
HP:0012372	Abnormal eye morphology	10982	MAPRE2	OMIM:616734
HP:0012372	Abnormal eye morphology	10982	MAPRE2	ORPHA:2505
HP:0012372	Abnormal eye morphology	4810	NHS	OMIM:302350
HP:0012372	Abnormal eye morphology	4810	NHS	ORPHA:627
HP:0012372	Abnormal eye morphology	203068	TUBB	OMIM:615771
HP:0012372	Abnormal eye morphology	203068	TUBB	OMIM:156610
HP:0012372	Abnormal eye morphology	203068	TUBB	ORPHA:2505
HP:0012372	Abnormal eye morphology	92255	LMBRD2	OMIM:619694
HP:0012372	Abnormal eye morphology	23511	NUP188	OMIM:618804
HP:0012372	Abnormal eye morphology	26007	TKFC	OMIM:618805
HP:0012372	Abnormal eye morphology	1147	CHUK	OMIM:619339
HP:0012372	Abnormal eye morphology	1312	COMT	ORPHA:567
HP:0012372	Abnormal eye morphology	221037	JMJD1C	ORPHA:567
HP:0012372	Abnormal eye morphology	2812	GP1BB	ORPHA:567
HP:0012372	Abnormal eye morphology	6239	RREB1	ORPHA:567
HP:0012372	Abnormal eye morphology	6899	TBX1	ORPHA:567
HP:0012372	Abnormal eye morphology	7290	HIRA	ORPHA:567
HP:0012372	Abnormal eye morphology	9632	SEC24C	ORPHA:567
HP:0012372	Abnormal eye morphology	7353	UFD1	ORPHA:567
HP:0012372	Abnormal eye morphology	421	ARVCF	ORPHA:567
HP:0012372	Abnormal eye morphology	444	ASPH	OMIM:601552
HP:0012372	Abnormal eye morphology	1822	ATN1	OMIM:618494
HP:0012372	Abnormal eye morphology	55644	OSGEP	OMIM:617729
HP:0012372	Abnormal eye morphology	57572	DOCK6	OMIM:614219
HP:0012372	Abnormal eye morphology	57572	DOCK6	ORPHA:974
HP:0012372	Abnormal eye morphology	29980	DONSON	OMIM:251230
HP:0012372	Abnormal eye morphology	668	FOXL2	OMIM:110100
HP:0012372	Abnormal eye morphology	9150	CTDP1	ORPHA:48431
HP:0012372	Abnormal eye morphology	29957	SLC25A24	OMIM:612289
HP:0012372	Abnormal eye morphology	57514	ARHGAP31	OMIM:100300
HP:0012372	Abnormal eye morphology	57514	ARHGAP31	ORPHA:974
HP:0012372	Abnormal eye morphology	4329	ALDH6A1	OMIM:614105
HP:0012372	Abnormal eye morphology	136647	MPLKIP	OMIM:234050
HP:0012372	Abnormal eye morphology	5290	PIK3CA	OMIM:602501
HP:0012372	Abnormal eye morphology	374879	ZNF699	OMIM:619488
HP:0012372	Abnormal eye morphology	3516	RBPJ	ORPHA:974
HP:0012372	Abnormal eye morphology	4851	NOTCH1	ORPHA:974
HP:0012372	Abnormal eye morphology	54567	DLL4	ORPHA:974
HP:0012372	Abnormal eye morphology	5264	PHYH	ORPHA:773
HP:0012372	Abnormal eye morphology	5191	PEX7	ORPHA:773
HP:0012372	Abnormal eye morphology	1499	CTNNB1	ORPHA:891
HP:0012372	Abnormal eye morphology	23554	TSPAN12	ORPHA:891
HP:0012372	Abnormal eye morphology	1736	DKC1	OMIM:301108
HP:0012372	Abnormal eye morphology	387	RHOA	OMIM:618727
HP:0012372	Abnormal eye morphology	5557	PRIM1	OMIM:620005
HP:0012372	Abnormal eye morphology	6913	TBX15	OMIM:260660
HP:0012372	Abnormal eye morphology	85378	TUBGCP6	OMIM:251270
HP:0012372	Abnormal eye morphology	2639	GCDH	ORPHA:25
HP:0012372	Abnormal eye morphology	5551	PRF1	ORPHA:88
HP:0012372	Abnormal eye morphology	51119	SBDS	ORPHA:88
HP:0012372	Abnormal eye morphology	1785	DNM2	OMIM:615368
HP:0012372	Abnormal eye morphology	4564	MT-TH	ORPHA:550
HP:0012372	Abnormal eye morphology	4570	MT-TN	OMIM:220110
HP:0012372	Abnormal eye morphology	6834	SURF1	OMIM:220110
HP:0012372	Abnormal eye morphology	246243	RNASEH1	ORPHA:329336
HP:0012372	Abnormal eye morphology	84334	COA8	ORPHA:436271
HP:0012372	Abnormal eye morphology	80201	HKDC1	OMIM:619614
HP:0012372	Abnormal eye morphology	51102	MECR	OMIM:617282
HP:0012372	Abnormal eye morphology	100996717	NOTCH2NLC	OMIM:619473
HP:0012372	Abnormal eye morphology	81689	ISCA1	OMIM:617613
HP:0012372	Abnormal eye morphology	3032	HADHB	ORPHA:746
HP:0012372	Abnormal eye morphology	3033	HADH	ORPHA:71212
HP:0012372	Abnormal eye morphology	2937	GSS	OMIM:266130
HP:0012372	Abnormal eye morphology	644096	SDHAF1	ORPHA:3208
HP:0012372	Abnormal eye morphology	5052	PRDX1	OMIM:277400
HP:0012372	Abnormal eye morphology	57061	HYMAI	ORPHA:96191
HP:0012372	Abnormal eye morphology	5325	PLAGL1	ORPHA:96191
HP:0012372	Abnormal eye morphology	5422	POLA1	OMIM:301030
HP:0012372	Abnormal eye morphology	4644	MYO5A	ORPHA:33445
HP:0012372	Abnormal eye morphology	79628	SH3TC2	ORPHA:99949
HP:0012372	Abnormal eye morphology	7299	TYR	ORPHA:79431
HP:0012372	Abnormal eye morphology	7299	TYR	ORPHA:79434
HP:0012372	Abnormal eye morphology	3476	IGBP1	OMIM:300472
HP:0012372	Abnormal eye morphology	3476	IGBP1	ORPHA:52055
HP:0012372	Abnormal eye morphology	4072	EPCAM	ORPHA:92050
HP:0012372	Abnormal eye morphology	105371045	PERCC1	ORPHA:92050
HP:0012372	Abnormal eye morphology	1663	DDX11	OMIM:613398
HP:0012372	Abnormal eye morphology	10653	SPINT2	OMIM:270420
HP:0012372	Abnormal eye morphology	8295	TRRAP	OMIM:618454
HP:0012372	Abnormal eye morphology	6608	SMO	ORPHA:1553
HP:0012372	Abnormal eye morphology	83479	DDX59	OMIM:174300
HP:0012372	Abnormal eye morphology	83483	PLVAP	OMIM:618183
HP:0012372	Abnormal eye morphology	22827	PUF60	ORPHA:508498
HP:0012372	Abnormal eye morphology	22827	PUF60	OMIM:615583
HP:0012372	Abnormal eye morphology	392255	GDF6	OMIM:613094
HP:0012372	Abnormal eye morphology	392255	GDF6	OMIM:613703
HP:0012372	Abnormal eye morphology	71	ACTG1	OMIM:614583
HP:0012372	Abnormal eye morphology	23126	POGZ	OMIM:616364
HP:0012372	Abnormal eye morphology	55773	TBC1D23	OMIM:617695
HP:0012372	Abnormal eye morphology	57545	CC2D2A	OMIM:619111
HP:0012372	Abnormal eye morphology	6711	SPTBN1	OMIM:619475
HP:0012372	Abnormal eye morphology	2033	EP300	OMIM:180849
HP:0012372	Abnormal eye morphology	2033	EP300	ORPHA:353284
HP:0012372	Abnormal eye morphology	2033	EP300	OMIM:613684
HP:0012372	Abnormal eye morphology	1387	CREBBP	OMIM:180849
HP:0012372	Abnormal eye morphology	1387	CREBBP	ORPHA:353281
HP:0012372	Abnormal eye morphology	1387	CREBBP	ORPHA:353277
HP:0012372	Abnormal eye morphology	95681	CEP41	OMIM:614464
HP:0012372	Abnormal eye morphology	5080	PAX6	ORPHA:2334
HP:0012372	Abnormal eye morphology	51524	TMEM138	OMIM:614465
HP:0012372	Abnormal eye morphology	23314	SATB2	ORPHA:251028
HP:0012372	Abnormal eye morphology	65062	TMEM237	OMIM:614424
HP:0012372	Abnormal eye morphology	55624	POMGNT1	OMIM:253280
HP:0012372	Abnormal eye morphology	55624	POMGNT1	ORPHA:370959
HP:0012372	Abnormal eye morphology	10586	MAB21L2	OMIM:615877
HP:0012372	Abnormal eye morphology	6650	CAPN15	OMIM:619318
HP:0012372	Abnormal eye morphology	4893	NRAS	OMIM:163200
HP:0012372	Abnormal eye morphology	3845	KRAS	OMIM:163200
HP:0012372	Abnormal eye morphology	3265	HRAS	OMIM:163200
HP:0012372	Abnormal eye morphology	3265	HRAS	ORPHA:2874
HP:0012372	Abnormal eye morphology	23384	SPECC1L	OMIM:600251
HP:0012372	Abnormal eye morphology	3190	HNRNPK	ORPHA:453504
HP:0012372	Abnormal eye morphology	3190	HNRNPK	ORPHA:352665
HP:0012372	Abnormal eye morphology	91147	TMEM67	OMIM:216360
HP:0012372	Abnormal eye morphology	9786	KIAA0586	OMIM:616490
HP:0012372	Abnormal eye morphology	29925	GMPPB	ORPHA:370959
HP:0012372	Abnormal eye morphology	79147	FKRP	ORPHA:370959
HP:0012372	Abnormal eye morphology	79147	FKRP	OMIM:236670
HP:0012372	Abnormal eye morphology	79147	FKRP	OMIM:613153
HP:0012372	Abnormal eye morphology	29954	POMT2	ORPHA:370959
HP:0012372	Abnormal eye morphology	29954	POMT2	OMIM:236670
HP:0012372	Abnormal eye morphology	84197	POMK	ORPHA:370959
HP:0012372	Abnormal eye morphology	84197	POMK	OMIM:615249
HP:0012372	Abnormal eye morphology	10585	POMT1	ORPHA:370959
HP:0012372	Abnormal eye morphology	10585	POMT1	OMIM:236670
HP:0012372	Abnormal eye morphology	374654	KIF7	OMIM:200990
HP:0012372	Abnormal eye morphology	5130	PCYT1A	ORPHA:85167
HP:0012372	Abnormal eye morphology	473	RERE	OMIM:616975
HP:0012372	Abnormal eye morphology	1806	DPYD	OMIM:274270
HP:0012372	Abnormal eye morphology	9158	FIBP	OMIM:617107
HP:0012372	Abnormal eye morphology	80210	ARMC9	OMIM:617622
HP:0012372	Abnormal eye morphology	8085	KMT2D	ORPHA:2322
HP:0012372	Abnormal eye morphology	7403	KDM6A	ORPHA:2322
HP:0012372	Abnormal eye morphology	79644	SRD5A3	OMIM:612379
HP:0012372	Abnormal eye morphology	79644	SRD5A3	ORPHA:324737
HP:0012372	Abnormal eye morphology	4286	MITF	OMIM:617306
HP:0012372	Abnormal eye morphology	9573	GDF3	OMIM:613703
HP:0012372	Abnormal eye morphology	55636	CHD7	ORPHA:138
HP:0012372	Abnormal eye morphology	55636	CHD7	OMIM:214800
HP:0012372	Abnormal eye morphology	9723	SEMA3E	ORPHA:138
HP:0012372	Abnormal eye morphology	2218	FKTN	OMIM:236670
HP:0012372	Abnormal eye morphology	9215	LARGE1	OMIM:236670
HP:0012372	Abnormal eye morphology	9897	WASHC5	OMIM:220210
HP:0012372	Abnormal eye morphology	10084	PQBP1	OMIM:309500
HP:0012372	Abnormal eye morphology	79989	IFT56	OMIM:619534
HP:0012372	Abnormal eye morphology	50945	TBX22	OMIM:302905
HP:0012372	Abnormal eye morphology	50945	TBX22	ORPHA:921
HP:0012372	Abnormal eye morphology	6469	SHH	OMIM:147250
HP:0012372	Abnormal eye morphology	5015	OTX2	OMIM:610125
HP:0012372	Abnormal eye morphology	23389	MED13L	OMIM:616789
HP:0012372	Abnormal eye morphology	157570	ESCO2	OMIM:268300
HP:0012372	Abnormal eye morphology	257	ALX3	OMIM:136760
HP:0012372	Abnormal eye morphology	25942	SIN3A	ORPHA:94065
HP:0012372	Abnormal eye morphology	171023	ASXL1	ORPHA:97297
HP:0012372	Abnormal eye morphology	23347	SMCHD1	OMIM:603457
HP:0012372	Abnormal eye morphology	652	BMP4	OMIM:607932
HP:0012372	Abnormal eye morphology	22884	WDR37	OMIM:618652
HP:0012372	Abnormal eye morphology	8665	EIF3F	OMIM:618295
HP:0012372	Abnormal eye morphology	5147	PDE6D	OMIM:615665
HP:0012372	Abnormal eye morphology	57178	ZMIZ1	OMIM:618659
HP:0012372	Abnormal eye morphology	55690	PACS1	ORPHA:329224
HP:0012372	Abnormal eye morphology	7020	TFAP2A	ORPHA:1297
HP:0012372	Abnormal eye morphology	2301	FOXE3	OMIM:610256
HP:0012372	Abnormal eye morphology	57167	SALL4	ORPHA:959
HP:0012372	Abnormal eye morphology	4990	SIX6	OMIM:206900
HP:0012372	Abnormal eye morphology	6657	SOX2	OMIM:206900
HP:0012372	Abnormal eye morphology	4929	NR4A2	ORPHA:1617
HP:0012372	Abnormal eye morphology	10716	TBR1	ORPHA:1617
HP:0012372	Abnormal eye morphology	54496	PRMT7	ORPHA:464288
HP:0012372	Abnormal eye morphology	64132	XYLT2	OMIM:605822
HP:0012372	Abnormal eye morphology	60681	FKBP10	OMIM:259450
HP:0012372	Abnormal eye morphology	121340	SP7	OMIM:613849
HP:0012372	Abnormal eye morphology	1188	CLCNKB	OMIM:607364
HP:0012372	Abnormal eye morphology	10491	CRTAP	ORPHA:2050
HP:0012372	Abnormal eye morphology	10491	CRTAP	OMIM:610682
HP:0012372	Abnormal eye morphology	9871	SEC24D	ORPHA:2050
HP:0012372	Abnormal eye morphology	9871	SEC24D	OMIM:616294
HP:0012372	Abnormal eye morphology	5034	P4HB	ORPHA:2050
HP:0012372	Abnormal eye morphology	5351	PLOD1	OMIM:225400
HP:0012372	Abnormal eye morphology	5351	PLOD1	ORPHA:1900
HP:0012372	Abnormal eye morphology	4598	MVK	ORPHA:29
HP:0012372	Abnormal eye morphology	4598	MVK	OMIM:610377
HP:0012372	Abnormal eye morphology	22856	CHSY1	ORPHA:363417
HP:0012372	Abnormal eye morphology	22856	CHSY1	OMIM:605282
HP:0012372	Abnormal eye morphology	84627	ZNF469	OMIM:229200
HP:0012372	Abnormal eye morphology	84627	ZNF469	ORPHA:90354
HP:0012372	Abnormal eye morphology	6228	RPS23	OMIM:617412
HP:0012372	Abnormal eye morphology	6885	MAP3K7	OMIM:617137
HP:0012372	Abnormal eye morphology	6885	MAP3K7	OMIM:157800
HP:0012372	Abnormal eye morphology	23028	KDM1A	OMIM:616728
HP:0012372	Abnormal eye morphology	23028	KDM1A	ORPHA:477993
HP:0012372	Abnormal eye morphology	1277	COL1A1	OMIM:259420
HP:0012372	Abnormal eye morphology	1277	COL1A1	OMIM:166210
HP:0012372	Abnormal eye morphology	1277	COL1A1	OMIM:166220
HP:0012372	Abnormal eye morphology	1277	COL1A1	OMIM:619115
HP:0012372	Abnormal eye morphology	1277	COL1A1	OMIM:166200
HP:0012372	Abnormal eye morphology	1278	COL1A2	OMIM:259420
HP:0012372	Abnormal eye morphology	1278	COL1A2	OMIM:166210
HP:0012372	Abnormal eye morphology	1278	COL1A2	OMIM:166220
HP:0012372	Abnormal eye morphology	1278	COL1A2	OMIM:619120
HP:0012372	Abnormal eye morphology	249	ALPL	OMIM:241500
HP:0012372	Abnormal eye morphology	51741	WWOX	OMIM:616211
HP:0012372	Abnormal eye morphology	9442	MED27	OMIM:619286
HP:0012372	Abnormal eye morphology	1855	DVL1	OMIM:616331
HP:0012372	Abnormal eye morphology	1855	DVL1	ORPHA:3107
HP:0012372	Abnormal eye morphology	5176	SERPINF1	OMIM:613982
HP:0012372	Abnormal eye morphology	5831	PYCR1	OMIM:614438
HP:0012372	Abnormal eye morphology	5831	PYCR1	OMIM:612940
HP:0012372	Abnormal eye morphology	1289	COL5A1	OMIM:619329
HP:0012372	Abnormal eye morphology	1289	COL5A1	OMIM:130000
HP:0012372	Abnormal eye morphology	6263	RYR3	OMIM:620310
HP:0012372	Abnormal eye morphology	4297	KMT2A	OMIM:605130
HP:0012372	Abnormal eye morphology	4784	NFIX	OMIM:602535
HP:0012372	Abnormal eye morphology	4784	NFIX	ORPHA:561
HP:0012372	Abnormal eye morphology	113189	CHST14	ORPHA:2953
HP:0012372	Abnormal eye morphology	113189	CHST14	OMIM:601776
HP:0012372	Abnormal eye morphology	29940	DSE	ORPHA:2953
HP:0012372	Abnormal eye morphology	29940	DSE	OMIM:615539
HP:0012372	Abnormal eye morphology	55603	TENT5A	OMIM:617952
HP:0012372	Abnormal eye morphology	23184	MESD	OMIM:618644
HP:0012372	Abnormal eye morphology	90993	CREB3L1	OMIM:616229
HP:0012372	Abnormal eye morphology	64131	XYLT1	OMIM:615777
HP:0012372	Abnormal eye morphology	64131	XYLT1	ORPHA:1425
HP:0012372	Abnormal eye morphology	64359	NXN	ORPHA:1507
HP:0012372	Abnormal eye morphology	4920	ROR2	ORPHA:1507
HP:0012372	Abnormal eye morphology	3481	IGF2	OMIM:180860
HP:0012372	Abnormal eye morphology	83480	PUS3	ORPHA:488627
HP:0012372	Abnormal eye morphology	83480	PUS3	OMIM:617051
HP:0012372	Abnormal eye morphology	1281	COL3A1	ORPHA:286
HP:0012372	Abnormal eye morphology	9509	ADAMTS2	OMIM:225410
HP:0012372	Abnormal eye morphology	11107	PRDM5	OMIM:614170
HP:0012372	Abnormal eye morphology	11107	PRDM5	ORPHA:90354
HP:0012372	Abnormal eye morphology	5442	POLRMT	OMIM:619743
HP:0012372	Abnormal eye morphology	23545	ATP6V0A2	OMIM:278250
HP:0012372	Abnormal eye morphology	1954	MEGF8	OMIM:614976
HP:0012372	Abnormal eye morphology	649	BMP1	OMIM:614856
HP:0012372	Abnormal eye morphology	2783	GNB2	OMIM:619503
HP:0012372	Abnormal eye morphology	26834	RNU4-2	OMIM:620851
HP:0012372	Abnormal eye morphology	760	CA2	ORPHA:2785
HP:0012372	Abnormal eye morphology	11285	B4GALT7	OMIM:130070
HP:0012372	Abnormal eye morphology	10526	IPO8	OMIM:619472
HP:0012372	Abnormal eye morphology	10526	IPO8	ORPHA:60030
HP:0012372	Abnormal eye morphology	1857	DVL3	ORPHA:3107
HP:0012372	Abnormal eye morphology	1857	DVL3	OMIM:616894
HP:0012372	Abnormal eye morphology	7474	WNT5A	ORPHA:3107
HP:0012372	Abnormal eye morphology	2535	FZD2	ORPHA:3107
HP:0012372	Abnormal eye morphology	5593	PRKG2	OMIM:619638
HP:0012372	Abnormal eye morphology	9894	TELO2	ORPHA:488642
HP:0012372	Abnormal eye morphology	1836	SLC26A2	ORPHA:628
HP:0012372	Abnormal eye morphology	11128	POLR3A	OMIM:264090
HP:0012372	Abnormal eye morphology	11128	POLR3A	ORPHA:3455
HP:0012372	Abnormal eye morphology	8936	WASF1	OMIM:618707
HP:0012372	Abnormal eye morphology	1528	CYB5A	ORPHA:621
HP:0012372	Abnormal eye morphology	1727	CYB5R3	ORPHA:621
HP:0012372	Abnormal eye morphology	1303	COL12A1	ORPHA:536516
HP:0012372	Abnormal eye morphology	25839	COG4	OMIM:618150
HP:0012372	Abnormal eye morphology	715	C1R	OMIM:130080
HP:0012372	Abnormal eye morphology	368	ABCC6	OMIM:177850
HP:0012372	Abnormal eye morphology	368	ABCC6	ORPHA:758
HP:0012372	Abnormal eye morphology	2690	GHR	OMIM:262500
HP:0012372	Abnormal eye morphology	2690	GHR	ORPHA:633
HP:0012372	Abnormal eye morphology	5075	PAX1	OMIM:615560
HP:0012372	Abnormal eye morphology	10220	GDF11	OMIM:619122
HP:0012372	Abnormal eye morphology	53335	BCL11A	OMIM:617101
HP:0012372	Abnormal eye morphology	23187	PHLDB1	OMIM:620639
HP:0012372	Abnormal eye morphology	57570	TRMT5	OMIM:616539
HP:0012372	Abnormal eye morphology	84919	PPP1R15B	OMIM:616817
HP:0012372	Abnormal eye morphology	84919	PPP1R15B	ORPHA:391408
HP:0012372	Abnormal eye morphology	93587	TRMT10A	ORPHA:391408
HP:0012372	Abnormal eye morphology	4488	MSX2	OMIM:168500
HP:0012372	Abnormal eye morphology	126792	B3GALT6	OMIM:271640
HP:0012372	Abnormal eye morphology	126792	B3GALT6	ORPHA:536467
HP:0012372	Abnormal eye morphology	126792	B3GALT6	OMIM:615349
HP:0012372	Abnormal eye morphology	55898	UNC45A	OMIM:619377
HP:0012372	Abnormal eye morphology	6651	SON	ORPHA:500150
HP:0012372	Abnormal eye morphology	5236	PGM1	OMIM:614921
HP:0012372	Abnormal eye morphology	5479	PPIB	OMIM:259440
HP:0012372	Abnormal eye morphology	81615	TMEM163	OMIM:620243
HP:0012372	Abnormal eye morphology	387733	IFITM5	OMIM:610967
HP:0012372	Abnormal eye morphology	124583	CANT1	ORPHA:1425
HP:0012372	Abnormal eye morphology	55790	CSGALNACT1	ORPHA:1425
HP:0012372	Abnormal eye morphology	1513	CTSK	ORPHA:763
HP:0012372	Abnormal eye morphology	9469	CHST3	OMIM:245600
HP:0012372	Abnormal eye morphology	26229	B3GAT3	OMIM:245600
HP:0012372	Abnormal eye morphology	129285	PPP1R21	OMIM:619383
HP:0012372	Abnormal eye morphology	91252	SLC39A13	ORPHA:157965
HP:0012372	Abnormal eye morphology	91252	SLC39A13	OMIM:612350
HP:0012372	Abnormal eye morphology	7471	WNT1	OMIM:615220
HP:0012372	Abnormal eye morphology	55151	TMEM38B	OMIM:615066
HP:0012372	Abnormal eye morphology	3636	INPPL1	ORPHA:2746
HP:0012372	Abnormal eye morphology	51013	EXOSC1	OMIM:619304
HP:0012372	Abnormal eye morphology	10664	CTCF	OMIM:615502
HP:0012372	Abnormal eye morphology	5167	ENPP1	ORPHA:758
HP:0012372	Abnormal eye morphology	871	SERPINH1	OMIM:613848
HP:0012372	Abnormal eye morphology	283450	HECTD4	OMIM:620250
HP:0012372	Abnormal eye morphology	5295	PIK3R1	ORPHA:3163
HP:0012372	Abnormal eye morphology	63916	ELMO2	ORPHA:3019
HP:0012372	Abnormal eye morphology	5648	MASP1	OMIM:257920
HP:0012372	Abnormal eye morphology	5648	MASP1	ORPHA:293843
HP:0012372	Abnormal eye morphology	182	JAG1	OMIM:118450
HP:0012372	Abnormal eye morphology	10847	SRCAP	ORPHA:2044
HP:0012372	Abnormal eye morphology	10584	COLEC10	ORPHA:293843
HP:0012372	Abnormal eye morphology	78989	COLEC11	ORPHA:293843
HP:0012372	Abnormal eye morphology	84706	GPT2	OMIM:616281
HP:0012372	Abnormal eye morphology	84706	GPT2	ORPHA:477673
HP:0012372	Abnormal eye morphology	91452	ACBD5	OMIM:618863
HP:0012372	Abnormal eye morphology	23019	CNOT1	OMIM:618500
HP:0012372	Abnormal eye morphology	23019	CNOT1	ORPHA:556955
HP:0012372	Abnormal eye morphology	55627	SMPD4	OMIM:618622
HP:0012372	Abnormal eye morphology	8818	DPM2	ORPHA:329178
HP:0012372	Abnormal eye morphology	8818	DPM2	OMIM:615042
HP:0012372	Abnormal eye morphology	10060	ABCC9	OMIM:619719
HP:0012372	Abnormal eye morphology	5575	PRKAR1B	OMIM:619680
HP:0012372	Abnormal eye morphology	5859	QARS1	OMIM:615760
HP:0012372	Abnormal eye morphology	2624	GATA2	OMIM:614038
HP:0012372	Abnormal eye morphology	10157	AASS	ORPHA:2203
HP:0012372	Abnormal eye morphology	26153	KIF26A	OMIM:620156
HP:0012372	Abnormal eye morphology	5053	PAH	ORPHA:2209
HP:0012372	Abnormal eye morphology	51098	IFT52	ORPHA:1515
HP:0012372	Abnormal eye morphology	55764	IFT122	ORPHA:1515
HP:0012372	Abnormal eye morphology	55764	IFT122	OMIM:218330
HP:0012372	Abnormal eye morphology	57728	WDR19	ORPHA:1515
HP:0012372	Abnormal eye morphology	537	ATP6AP1	OMIM:300972
HP:0012372	Abnormal eye morphology	815	CAMK2A	OMIM:617798
HP:0012372	Abnormal eye morphology	372	ARCN1	OMIM:617164
HP:0012372	Abnormal eye morphology	51199	NIN	OMIM:614851
HP:0012372	Abnormal eye morphology	51199	NIN	ORPHA:319675
HP:0012372	Abnormal eye morphology	6491	STIL	ORPHA:93926
HP:0012372	Abnormal eye morphology	6491	STIL	ORPHA:93924
HP:0012372	Abnormal eye morphology	6491	STIL	ORPHA:93925
HP:0012372	Abnormal eye morphology	6491	STIL	ORPHA:220386
HP:0012372	Abnormal eye morphology	23007	PLCH1	ORPHA:93925
HP:0012372	Abnormal eye morphology	55361	PI4K2A	OMIM:620732
HP:0012372	Abnormal eye morphology	8943	AP3D1	OMIM:617050
HP:0012372	Abnormal eye morphology	57282	SLC4A10	OMIM:620746
HP:0012372	Abnormal eye morphology	132884	EVC2	OMIM:193530
HP:0012372	Abnormal eye morphology	2121	EVC	OMIM:193530
HP:0012372	Abnormal eye morphology	8239	USP9X	OMIM:300968
HP:0012372	Abnormal eye morphology	51085	MLXIPL	OMIM:194050
HP:0012372	Abnormal eye morphology	84628	NTNG2	OMIM:618718
HP:0012372	Abnormal eye morphology	2678	GGT1	OMIM:231950
HP:0012372	Abnormal eye morphology	284058	KANSL1	OMIM:610443
HP:0012372	Abnormal eye morphology	1523	CUX1	OMIM:618330
HP:0012372	Abnormal eye morphology	84148	KAT8	OMIM:618974
HP:0012372	Abnormal eye morphology	1642	DDB1	OMIM:619426
HP:0012372	Abnormal eye morphology	64858	DCLRE1B	OMIM:620133
HP:0012372	Abnormal eye morphology	735	C9	OMIM:615591
HP:0012372	Abnormal eye morphology	5654	HTRA1	OMIM:610149
HP:0012372	Abnormal eye morphology	1471	CST3	OMIM:611953
HP:0012372	Abnormal eye morphology	51807	TUBA8	ORPHA:250972
HP:0012372	Abnormal eye morphology	8854	ALDH1A2	OMIM:620025
HP:0012372	Abnormal eye morphology	11267	SNF8	OMIM:620783
HP:0012372	Abnormal eye morphology	256297	PTF1A	OMIM:609069
HP:0012372	Abnormal eye morphology	256297	PTF1A	ORPHA:65288
HP:0012372	Abnormal eye morphology	387119	CEP85L	ORPHA:572013
HP:0012372	Abnormal eye morphology	25930	PTPN23	OMIM:618890
HP:0012372	Abnormal eye morphology	1974	EIF4A2	OMIM:620455
HP:0012372	Abnormal eye morphology	4747	NEFL	ORPHA:101085
HP:0012372	Abnormal eye morphology	64864	RFX7	OMIM:620330
HP:0012372	Abnormal eye morphology	8820	HESX1	OMIM:182230
HP:0012372	Abnormal eye morphology	8820	HESX1	ORPHA:226307
HP:0012372	Abnormal eye morphology	8820	HESX1	ORPHA:95494
HP:0012372	Abnormal eye morphology	8820	HESX1	ORPHA:3157
HP:0012372	Abnormal eye morphology	7025	NR2F1	ORPHA:401777
HP:0012372	Abnormal eye morphology	23259	DDHD2	OMIM:615033
HP:0012372	Abnormal eye morphology	5626	PROP1	ORPHA:226307
HP:0012372	Abnormal eye morphology	5626	PROP1	ORPHA:95494
HP:0012372	Abnormal eye morphology	89884	LHX4	ORPHA:226307
HP:0012372	Abnormal eye morphology	89884	LHX4	ORPHA:95494
HP:0012372	Abnormal eye morphology	8022	LHX3	ORPHA:226307
HP:0012372	Abnormal eye morphology	2550	GABBR1	OMIM:620502
HP:0012372	Abnormal eye morphology	3170	FOXA2	ORPHA:95494
HP:0012372	Abnormal eye morphology	2222	FDFT1	OMIM:618156
HP:0012372	Abnormal eye morphology	2893	GRIA4	OMIM:617864
HP:0012372	Abnormal eye morphology	6658	SOX3	ORPHA:3157
HP:0012372	Abnormal eye morphology	3105	HLA-A	ORPHA:179
HP:0012372	Abnormal eye morphology	8842	PROM1	ORPHA:827
HP:0012372	Abnormal eye morphology	5961	PRPH2	ORPHA:827
HP:0012372	Abnormal eye morphology	6785	ELOVL4	ORPHA:827
HP:0012372	Abnormal eye morphology	24	ABCA4	ORPHA:827
HP:0012372	Abnormal eye morphology	54714	CNGB3	ORPHA:827
HP:0012372	Abnormal eye morphology	7078	TIMP3	ORPHA:59181
HP:0012372	Abnormal eye morphology	23418	CRB1	ORPHA:35612
HP:0012372	Abnormal eye morphology	7439	BEST1	ORPHA:35612
HP:0012372	Abnormal eye morphology	26022	TMEM98	ORPHA:35612
HP:0012372	Abnormal eye morphology	220	ALDH1A3	ORPHA:35612
HP:0012372	Abnormal eye morphology	646960	PRSS56	ORPHA:35612
HP:0012372	Abnormal eye morphology	83552	MFRP	ORPHA:35612
HP:0012372	Abnormal eye morphology	30062	RAX	ORPHA:35612
HP:0012372	Abnormal eye morphology	6017	RLBP1	ORPHA:85128
HP:0012372	Abnormal eye morphology	4763	NF1	ORPHA:97685
HP:0012372	Abnormal eye morphology	2776	GNAQ	ORPHA:3205
HP:0012372	Abnormal eye morphology	1409	CRYAA	OMIM:604219
HP:0012372	Abnormal eye morphology	1409	CRYAA	ORPHA:1377
HP:0012372	Abnormal eye morphology	23394	ADNP	ORPHA:404448
HP:0012372	Abnormal eye morphology	1859	DYRK1A	ORPHA:268261
HP:0012372	Abnormal eye morphology	406987	MIR204	OMIM:616722
HP:0012372	Abnormal eye morphology	2260	FGFR1	OMIM:147950
HP:0012372	Abnormal eye morphology	2260	FGFR1	ORPHA:280200
HP:0012372	Abnormal eye morphology	2260	FGFR1	ORPHA:2396
HP:0012372	Abnormal eye morphology	4919	ROR1	OMIM:617654
HP:0012372	Abnormal eye morphology	7473	WNT3	ORPHA:3301
HP:0012372	Abnormal eye morphology	340419	RSPO2	ORPHA:3301
HP:0012372	Abnormal eye morphology	9496	TBX4	ORPHA:3301
HP:0012372	Abnormal eye morphology	2316	FLNA	OMIM:300244
HP:0012372	Abnormal eye morphology	2316	FLNA	ORPHA:88630
HP:0012372	Abnormal eye morphology	116931	MED12L	OMIM:618872
HP:0012372	Abnormal eye morphology	26610	ELP4	OMIM:617141
HP:0012372	Abnormal eye morphology	4867	NPHP1	ORPHA:220497
HP:0012372	Abnormal eye morphology	26128	KIFBP	ORPHA:66629
HP:0012372	Abnormal eye morphology	84892	POMGNT2	ORPHA:899
HP:0012372	Abnormal eye morphology	148789	B3GALNT2	ORPHA:899
HP:0012372	Abnormal eye morphology	1282	COL4A1	ORPHA:899
HP:0012372	Abnormal eye morphology	729920	CRPPA	ORPHA:899
HP:0012372	Abnormal eye morphology	10329	RXYLT1	ORPHA:899
HP:0012372	Abnormal eye morphology	1605	DAG1	ORPHA:899
HP:0012372	Abnormal eye morphology	11041	B4GAT1	ORPHA:899
HP:0012372	Abnormal eye morphology	28514	DLL1	ORPHA:280200
HP:0012372	Abnormal eye morphology	2253	FGF8	ORPHA:280200
HP:0012372	Abnormal eye morphology	7050	TGIF1	ORPHA:280200
HP:0012372	Abnormal eye morphology	4838	NODAL	ORPHA:280200
HP:0012372	Abnormal eye morphology	51684	SUFU	ORPHA:280200
HP:0012372	Abnormal eye morphology	51684	SUFU	ORPHA:475
HP:0012372	Abnormal eye morphology	51684	SUFU	ORPHA:377
HP:0012372	Abnormal eye morphology	7546	ZIC2	ORPHA:280200
HP:0012372	Abnormal eye morphology	2619	GAS1	ORPHA:280200
HP:0012372	Abnormal eye morphology	84976	DISP1	ORPHA:280200
HP:0012372	Abnormal eye morphology	2736	GLI2	ORPHA:280200
HP:0012372	Abnormal eye morphology	8928	FOXH1	ORPHA:280200
HP:0012372	Abnormal eye morphology	6997	CRIPTO	ORPHA:280200
HP:0012372	Abnormal eye morphology	5727	PTCH1	ORPHA:280200
HP:0012372	Abnormal eye morphology	5727	PTCH1	OMIM:109400
HP:0012372	Abnormal eye morphology	5727	PTCH1	OMIM:610828
HP:0012372	Abnormal eye morphology	5727	PTCH1	ORPHA:377
HP:0012372	Abnormal eye morphology	50937	CDON	ORPHA:280200
HP:0012372	Abnormal eye morphology	5925	RB1	ORPHA:1587
HP:0012372	Abnormal eye morphology	4853	NOTCH2	OMIM:102500
HP:0012372	Abnormal eye morphology	4853	NOTCH2	ORPHA:955
HP:0012372	Abnormal eye morphology	1063	CENPF	OMIM:243605
HP:0012372	Abnormal eye morphology	2263	FGFR2	ORPHA:207
HP:0012372	Abnormal eye morphology	2077	ERF	ORPHA:207
HP:0012372	Abnormal eye morphology	4313	MMP2	ORPHA:371428
HP:0012372	Abnormal eye morphology	4323	MMP14	ORPHA:371428
HP:0012372	Abnormal eye morphology	10815	CPLX1	ORPHA:280
HP:0012372	Abnormal eye morphology	10815	CPLX1	OMIM:194190
HP:0012372	Abnormal eye morphology	54872	PIGG	ORPHA:280
HP:0012372	Abnormal eye morphology	7469	NELFA	ORPHA:280
HP:0012372	Abnormal eye morphology	1487	CTBP1	ORPHA:280
HP:0012372	Abnormal eye morphology	1487	CTBP1	OMIM:194190
HP:0012372	Abnormal eye morphology	3954	LETM1	ORPHA:280
HP:0012372	Abnormal eye morphology	3954	LETM1	OMIM:194190
HP:0012372	Abnormal eye morphology	7468	NSD2	ORPHA:280
HP:0012372	Abnormal eye morphology	7468	NSD2	OMIM:194190
HP:0012372	Abnormal eye morphology	338917	VSX2	OMIM:610092
HP:0012372	Abnormal eye morphology	55714	TENM3	OMIM:615145
HP:0012372	Abnormal eye morphology	523	ATP6V1A	OMIM:618012
HP:0012372	Abnormal eye morphology	4854	NOTCH3	ORPHA:2789
HP:0012372	Abnormal eye morphology	4591	TRIM37	OMIM:253250
HP:0012372	Abnormal eye morphology	4036	LRP2	ORPHA:2143
HP:0012372	Abnormal eye morphology	4036	LRP2	OMIM:222448
HP:0012372	Abnormal eye morphology	53834	FGFRL1	OMIM:194190
HP:0012372	Abnormal eye morphology	2313	FLI1	ORPHA:2308
HP:0012372	Abnormal eye morphology	9851	KIAA0753	ORPHA:475
HP:0012372	Abnormal eye morphology	79600	TCTN1	ORPHA:475
HP:0012372	Abnormal eye morphology	79848	CSPP1	ORPHA:475
HP:0012372	Abnormal eye morphology	8481	OFD1	ORPHA:475
HP:0012372	Abnormal eye morphology	65250	CPLANE1	ORPHA:475
HP:0012372	Abnormal eye morphology	200894	ARL13B	ORPHA:475
HP:0012372	Abnormal eye morphology	9731	CEP104	ORPHA:475
HP:0012372	Abnormal eye morphology	219844	HYLS1	ORPHA:475
HP:0012372	Abnormal eye morphology	23247	KATNIP	ORPHA:475
HP:0012372	Abnormal eye morphology	219854	TMEM218	ORPHA:475
HP:0012372	Abnormal eye morphology	26123	TCTN3	ORPHA:475
HP:0012372	Abnormal eye morphology	79867	TCTN2	ORPHA:475
HP:0012372	Abnormal eye morphology	80776	B9D2	ORPHA:475
HP:0012372	Abnormal eye morphology	10464	PIBF1	ORPHA:475
HP:0012372	Abnormal eye morphology	23116	TOGARAM1	ORPHA:475
HP:0012372	Abnormal eye morphology	25776	CBY1	ORPHA:475
HP:0012372	Abnormal eye morphology	27077	B9D1	ORPHA:475
HP:0012372	Abnormal eye morphology	403	ARL3	ORPHA:475
HP:0012372	Abnormal eye morphology	80173	IFT74	ORPHA:475
HP:0012372	Abnormal eye morphology	3981	LIG4	ORPHA:235
HP:0012372	Abnormal eye morphology	54888	NSUN2	ORPHA:235
HP:0012372	Abnormal eye morphology	157680	VPS13B	ORPHA:193
HP:0012372	Abnormal eye morphology	54539	NDUFB11	OMIM:309801
HP:0012372	Abnormal eye morphology	1349	COX7B	OMIM:309801
HP:0012372	Abnormal eye morphology	3052	HCCS	OMIM:309801
HP:0012372	Abnormal eye morphology	10908	PNPLA6	ORPHA:2377
HP:0012372	Abnormal eye morphology	286	ANK1	ORPHA:251066
HP:0012372	Abnormal eye morphology	85365	ALG2	ORPHA:79326
HP:0012372	Abnormal eye morphology	85365	ALG2	OMIM:607906
HP:0012372	Abnormal eye morphology	284252	KCTD1	OMIM:181270
HP:0012372	Abnormal eye morphology	84172	POLR1B	ORPHA:861
HP:0012372	Abnormal eye morphology	9533	POLR1C	ORPHA:861
HP:0012372	Abnormal eye morphology	51082	POLR1D	ORPHA:861
HP:0012372	Abnormal eye morphology	6949	TCOF1	ORPHA:861
HP:0012372	Abnormal eye morphology	9338	TCEAL1	OMIM:301094
HP:0012372	Abnormal eye morphology	7837	PXDN	OMIM:269400
HP:0012372	Abnormal eye morphology	8643	PTCH2	ORPHA:377
HP:0012372	Abnormal eye morphology	57479	PRR12	OMIM:619539
HP:0012372	Abnormal eye morphology	4094	MAF	OMIM:610202
HP:0012372	Abnormal eye morphology	4094	MAF	ORPHA:1377
HP:0012372	Abnormal eye morphology	10195	ALG3	OMIM:601110
HP:0012372	Abnormal eye morphology	2703	GJA8	ORPHA:1377
HP:0012372	Abnormal eye morphology	1413	CRYBA4	ORPHA:1377
HP:0012372	Abnormal eye morphology	1415	CRYBB2	ORPHA:1377
HP:0012372	Abnormal eye morphology	1414	CRYBB1	ORPHA:1377
HP:0012372	Abnormal eye morphology	1420	CRYGC	ORPHA:1377
HP:0012372	Abnormal eye morphology	1421	CRYGD	ORPHA:1377
HP:0012372	Abnormal eye morphology	10058	ABCB6	OMIM:614497
HP:0012372	Abnormal eye morphology	90952	ESAM	OMIM:620371
HP:0012372	Abnormal eye morphology	4935	GPR143	ORPHA:54
HP:0012372	Abnormal eye morphology	112802	KRT71	ORPHA:170
HP:0012372	Abnormal eye morphology	121391	KRT74	ORPHA:170
HP:0012372	Abnormal eye morphology	200879	LIPH	ORPHA:170
HP:0012372	Abnormal eye morphology	10161	LPAR6	ORPHA:170
HP:0012372	Abnormal eye morphology	147183	KRT25	ORPHA:170
HP:0012372	Abnormal eye morphology	8518	ELP1	ORPHA:1764
HP:0012372	Abnormal eye morphology	5376	PMP22	ORPHA:90658
HP:0012372	Abnormal eye morphology	4359	MPZ	ORPHA:101082
HP:0012372	Abnormal eye morphology	8924	HERC2	OMIM:615516
HP:0012372	Abnormal eye morphology	1908	EDN3	OMIM:613265
HP:0012372	Abnormal eye morphology	4254	KITLG	OMIM:619947
HP:0012372	Abnormal eye morphology	1910	EDNRB	OMIM:277580
HP:0012372	Abnormal eye morphology	7306	TYRP1	ORPHA:79433
HP:0012372	Abnormal eye morphology	91179	SCARF2	OMIM:600920
HP:0012372	Abnormal eye morphology	55703	POLR3B	OMIM:614381
HP:0012372	Abnormal eye morphology	55703	POLR3B	OMIM:607694
HP:0012372	Abnormal eye morphology	55823	VPS11	OMIM:616683
HP:0012372	Abnormal eye morphology	55823	VPS11	ORPHA:466934
HP:0012372	Abnormal eye morphology	27247	NFU1	OMIM:620938
HP:0012372	Abnormal eye morphology	23446	SLC44A1	OMIM:618868
HP:0012372	Abnormal eye morphology	201595	STT3B	OMIM:615597
HP:0012372	Abnormal eye morphology	201595	STT3B	ORPHA:370924
HP:0012372	Abnormal eye morphology	1729	DIAPH1	ORPHA:477814
HP:0012372	Abnormal eye morphology	1729	DIAPH1	OMIM:616632
HP:0012372	Abnormal eye morphology	57165	GJC2	OMIM:608804
HP:0012372	Abnormal eye morphology	65993	MRPS34	OMIM:617664
HP:0012372	Abnormal eye morphology	6536	SLC6A9	OMIM:617301
HP:0012372	Abnormal eye morphology	200205	IBA57	OMIM:616451
HP:0012372	Abnormal eye morphology	200205	IBA57	ORPHA:468661
HP:0012372	Abnormal eye morphology	200205	IBA57	OMIM:615330
HP:0012372	Abnormal eye morphology	51112	TRAPPC12	OMIM:617669
HP:0012372	Abnormal eye morphology	51112	TRAPPC12	ORPHA:500144
HP:0012372	Abnormal eye morphology	6660	SOX5	ORPHA:313892
HP:0012372	Abnormal eye morphology	6660	SOX5	OMIM:616803
HP:0012372	Abnormal eye morphology	410	ARSA	ORPHA:309271
HP:0012372	Abnormal eye morphology	410	ARSA	ORPHA:309263
HP:0012372	Abnormal eye morphology	410	ARSA	OMIM:250100
HP:0012372	Abnormal eye morphology	410	ARSA	ORPHA:309256
HP:0012372	Abnormal eye morphology	7345	UCHL1	OMIM:615491
HP:0012372	Abnormal eye morphology	7345	UCHL1	OMIM:620221
HP:0012372	Abnormal eye morphology	5105	PCK1	OMIM:261680
HP:0012372	Abnormal eye morphology	9326	ZNHIT3	ORPHA:2836
HP:0012372	Abnormal eye morphology	9326	ZNHIT3	OMIM:260565
HP:0012372	Abnormal eye morphology	55149	MTPAP	ORPHA:254343
HP:0012372	Abnormal eye morphology	55149	MTPAP	OMIM:613672
HP:0012372	Abnormal eye morphology	83636	C19orf12	OMIM:614298
HP:0012372	Abnormal eye morphology	83636	C19orf12	OMIM:615043
HP:0012372	Abnormal eye morphology	5833	PCYT2	OMIM:618770
HP:0012372	Abnormal eye morphology	388962	BOLA3	OMIM:614299
HP:0012372	Abnormal eye morphology	79731	NARS2	OMIM:616239
HP:0012372	Abnormal eye morphology	92609	TIMM50	OMIM:617698
HP:0012372	Abnormal eye morphology	92609	TIMM50	ORPHA:505216
HP:0012372	Abnormal eye morphology	51692	CPSF3	OMIM:619876
HP:0012372	Abnormal eye morphology	122961	ISCA2	OMIM:616370
HP:0012372	Abnormal eye morphology	7841	MOGS	ORPHA:79330
HP:0012372	Abnormal eye morphology	7841	MOGS	OMIM:606056
HP:0012372	Abnormal eye morphology	5981	RFC1	ORPHA:504476
HP:0012372	Abnormal eye morphology	197258	FCSK	OMIM:618324
HP:0012372	Abnormal eye morphology	2395	FXN	OMIM:229300
HP:0012372	Abnormal eye morphology	2395	FXN	ORPHA:95
HP:0012372	Abnormal eye morphology	10463	SLC30A9	OMIM:617595
HP:0012372	Abnormal eye morphology	9725	TMEM63A	OMIM:618688
HP:0012372	Abnormal eye morphology	9526	MPDU1	ORPHA:79323
HP:0012372	Abnormal eye morphology	9526	MPDU1	OMIM:609180
HP:0012372	Abnormal eye morphology	1967	EIF2B1	OMIM:603896
HP:0012372	Abnormal eye morphology	91137	SLC25A46	OMIM:619303
HP:0012372	Abnormal eye morphology	91137	SLC25A46	ORPHA:2254
HP:0012372	Abnormal eye morphology	91137	SLC25A46	OMIM:616505
HP:0012372	Abnormal eye morphology	133686	NADK2	OMIM:616034
HP:0012372	Abnormal eye morphology	835	CASP2	OMIM:620653
HP:0012372	Abnormal eye morphology	9900	SV2A	OMIM:620772
HP:0012372	Abnormal eye morphology	4594	MMUT	ORPHA:79312
HP:0012372	Abnormal eye morphology	4594	MMUT	ORPHA:289916
HP:0012372	Abnormal eye morphology	4549	MT-RNR1	ORPHA:551
HP:0012372	Abnormal eye morphology	4571	MT-TP	ORPHA:551
HP:0012372	Abnormal eye morphology	51728	POLR3K	OMIM:619310
HP:0012372	Abnormal eye morphology	846	CASR	ORPHA:428
HP:0012372	Abnormal eye morphology	23345	SYNE1	OMIM:610743
HP:0012372	Abnormal eye morphology	81790	RNF170	OMIM:619686
HP:0012372	Abnormal eye morphology	1436	CSF1R	OMIM:618476
HP:0012372	Abnormal eye morphology	8890	EIF2B4	OMIM:620314
HP:0012372	Abnormal eye morphology	154881	KCTD7	OMIM:611726
HP:0012372	Abnormal eye morphology	154881	KCTD7	ORPHA:263516
HP:0012372	Abnormal eye morphology	79944	L2HGDH	OMIM:236792
HP:0012372	Abnormal eye morphology	8869	ST3GAL5	OMIM:609056
HP:0012372	Abnormal eye morphology	549	AUH	OMIM:250950
HP:0012372	Abnormal eye morphology	112812	FDX2	OMIM:251900
HP:0012372	Abnormal eye morphology	23258	DENND5A	OMIM:617281
HP:0012372	Abnormal eye morphology	27316	RBMX	OMIM:309555
HP:0012372	Abnormal eye morphology	9758	FRMPD4	OMIM:300983
HP:0012372	Abnormal eye morphology	60386	SLC25A19	ORPHA:99742
HP:0012372	Abnormal eye morphology	60386	SLC25A19	OMIM:607196
HP:0012372	Abnormal eye morphology	79736	TEFM	OMIM:620451
HP:0012372	Abnormal eye morphology	84065	TMEM222	OMIM:619470
HP:0012372	Abnormal eye morphology	22978	NT5C2	ORPHA:320396
HP:0012372	Abnormal eye morphology	22978	NT5C2	OMIM:613162
HP:0012372	Abnormal eye morphology	79152	FA2H	ORPHA:171629
HP:0012372	Abnormal eye morphology	79152	FA2H	ORPHA:329308
HP:0012372	Abnormal eye morphology	79152	FA2H	OMIM:612319
HP:0012372	Abnormal eye morphology	23636	NUP62	ORPHA:225154
HP:0012372	Abnormal eye morphology	23636	NUP62	OMIM:271930
HP:0012372	Abnormal eye morphology	53371	NUP54	ORPHA:225154
HP:0012372	Abnormal eye morphology	131118	DNAJC19	ORPHA:66634
HP:0012372	Abnormal eye morphology	131118	DNAJC19	OMIM:610198
HP:0012372	Abnormal eye morphology	11043	MID2	OMIM:300928
HP:0012372	Abnormal eye morphology	1678	TIMM8A	ORPHA:52368
HP:0012372	Abnormal eye morphology	114034	TOE1	ORPHA:284339
HP:0012372	Abnormal eye morphology	114034	TOE1	OMIM:614969
HP:0012372	Abnormal eye morphology	1496	CTNNA2	OMIM:618174
HP:0012372	Abnormal eye morphology	8398	PLA2G6	OMIM:610217
HP:0012372	Abnormal eye morphology	8398	PLA2G6	ORPHA:35069
HP:0012372	Abnormal eye morphology	8398	PLA2G6	OMIM:256600
HP:0012372	Abnormal eye morphology	25821	MTO1	OMIM:614702
HP:0012372	Abnormal eye morphology	79581	SLC52A2	OMIM:614707
HP:0012372	Abnormal eye morphology	51218	GLRX5	ORPHA:401866
HP:0012372	Abnormal eye morphology	51218	GLRX5	OMIM:616859
HP:0012372	Abnormal eye morphology	9640	ZNF592	ORPHA:83472
HP:0012372	Abnormal eye morphology	271	AMPD2	OMIM:615809
HP:0012372	Abnormal eye morphology	51204	TACO1	OMIM:619052
HP:0012372	Abnormal eye morphology	55037	PTCD3	OMIM:619057
HP:0012372	Abnormal eye morphology	1757	SARDH	ORPHA:3129
HP:0012372	Abnormal eye morphology	55157	DARS2	ORPHA:137898
HP:0012372	Abnormal eye morphology	10382	TUBB4A	OMIM:612438
HP:0012372	Abnormal eye morphology	84947	SERAC1	OMIM:614739
HP:0012372	Abnormal eye morphology	11340	EXOSC8	ORPHA:2254
HP:0012372	Abnormal eye morphology	23287	AGTPBP1	ORPHA:2254
HP:0012372	Abnormal eye morphology	7443	VRK1	ORPHA:2254
HP:0012372	Abnormal eye morphology	4256	MGP	ORPHA:85202
HP:0012372	Abnormal eye morphology	471	ATIC	OMIM:608688
HP:0012372	Abnormal eye morphology	55275	VPS53	OMIM:615851
HP:0012372	Abnormal eye morphology	283989	TSEN54	OMIM:277470
HP:0012372	Abnormal eye morphology	23590	PDSS1	OMIM:614651
HP:0012372	Abnormal eye morphology	9230	RAB11B	OMIM:617807
HP:0012372	Abnormal eye morphology	53616	ADAM22	OMIM:617933
HP:0012372	Abnormal eye morphology	10342	TFG	ORPHA:431329
HP:0012372	Abnormal eye morphology	10342	TFG	OMIM:615658
HP:0012372	Abnormal eye morphology	9512	PMPCB	OMIM:617954
HP:0012372	Abnormal eye morphology	2058	EPRS1	OMIM:617951
HP:0012372	Abnormal eye morphology	54974	THG1L	OMIM:618800
HP:0012372	Abnormal eye morphology	128989	TANGO2	ORPHA:480864
HP:0012372	Abnormal eye morphology	128989	TANGO2	OMIM:616878
HP:0012372	Abnormal eye morphology	57511	COG6	OMIM:614576
HP:0012372	Abnormal eye morphology	51501	HIKESHI	OMIM:616881
HP:0012372	Abnormal eye morphology	22934	RPIA	OMIM:608611
HP:0012372	Abnormal eye morphology	51124	IER3IP1	OMIM:614231
HP:0012372	Abnormal eye morphology	55704	CCDC88A	OMIM:617507
HP:0012372	Abnormal eye morphology	57410	SCYL1	ORPHA:466794
HP:0012372	Abnormal eye morphology	10844	TUBGCP2	OMIM:618737
HP:0012372	Abnormal eye morphology	547	KIF1A	OMIM:614255
HP:0012372	Abnormal eye morphology	221927	BRAT1	OMIM:614498
HP:0012372	Abnormal eye morphology	55753	OGDHL	OMIM:619701
HP:0012372	Abnormal eye morphology	5297	PI4KA	OMIM:619708
HP:0012372	Abnormal eye morphology	54892	NCAPG2	OMIM:618460
HP:0012372	Abnormal eye morphology	344	APOC2	OMIM:207750
HP:0012372	Abnormal eye morphology	2538	G6PC1	OMIM:232200
HP:0012372	Abnormal eye morphology	338328	GPIHBP1	OMIM:615947
HP:0012372	Abnormal eye morphology	4023	LPL	OMIM:238600
HP:0012372	Abnormal eye morphology	348	APOE	ORPHA:412
HP:0012372	Abnormal eye morphology	80781	COL18A1	OMIM:267750
HP:0012372	Abnormal eye morphology	23476	BRD4	ORPHA:199
HP:0012372	Abnormal eye morphology	9126	SMC3	ORPHA:199
HP:0012372	Abnormal eye morphology	8243	SMC1A	ORPHA:199
HP:0012372	Abnormal eye morphology	6878	TAF6	ORPHA:199
HP:0012372	Abnormal eye morphology	25836	NIPBL	ORPHA:199
HP:0012372	Abnormal eye morphology	55869	HDAC8	ORPHA:199
HP:0012372	Abnormal eye morphology	5885	RAD21	ORPHA:199
HP:0012372	Abnormal eye morphology	79639	TMEM53	OMIM:619727
HP:0012372	Abnormal eye morphology	4140	MARK3	OMIM:618283
HP:0012372	Abnormal eye morphology	220202	ATOH7	OMIM:221900
HP:0012372	Abnormal eye morphology	220202	ATOH7	ORPHA:91495
HP:0012372	Abnormal eye morphology	54880	BCOR	OMIM:300166
HP:0012372	Abnormal eye morphology	4041	LRP5	OMIM:259770
HP:0012372	Abnormal eye morphology	4693	NDP	ORPHA:91495
HP:0012372	Abnormal eye morphology	8322	FZD4	ORPHA:91495
HP:0012372	Abnormal eye morphology	3166	HMX1	OMIM:612109
HP:0012372	Abnormal eye morphology	1009	CDH11	OMIM:211380
HP:0012372	Abnormal eye morphology	6890	TAP1	OMIM:604571
HP:0012372	Abnormal eye morphology	2201	FBN2	OMIM:121050
HP:0012372	Abnormal eye morphology	2201	FBN2	ORPHA:115
HP:0012372	Abnormal eye morphology	336	APOA2	OMIM:143890
HP:0012372	Abnormal eye morphology	2053	EPHX2	OMIM:143890
HP:0012372	Abnormal eye morphology	10842	PPP1R17	OMIM:143890
HP:0012372	Abnormal eye morphology	3990	LIPC	OMIM:614025
HP:0012372	Abnormal eye morphology	6522	SLC4A2	OMIM:620366
HP:0012372	Abnormal eye morphology	7386	UQCRFS1	OMIM:618775
HP:0012372	Abnormal eye morphology	6736	SRY	ORPHA:1772
HP:0012372	Abnormal eye morphology	169792	GLIS3	OMIM:610199
HP:0012372	Abnormal eye morphology	10535	RNASEH2A	ORPHA:51
HP:0012372	Abnormal eye morphology	84153	RNASEH2C	ORPHA:51
HP:0012372	Abnormal eye morphology	25939	SAMHD1	ORPHA:51
HP:0012372	Abnormal eye morphology	79621	RNASEH2B	ORPHA:51
HP:0012372	Abnormal eye morphology	103	ADAR	ORPHA:51
HP:0012372	Abnormal eye morphology	100147744	RNU7-1	ORPHA:51
HP:0012372	Abnormal eye morphology	134353	LSM11	ORPHA:51
HP:0012372	Abnormal eye morphology	64135	IFIH1	ORPHA:51
HP:0012372	Abnormal eye morphology	58495	OVOL2	OMIM:122000
HP:0012372	Abnormal eye morphology	6091	ROBO1	OMIM:620305
HP:0012372	Abnormal eye morphology	4053	LTBP2	ORPHA:98976
HP:0012372	Abnormal eye morphology	7010	TEK	ORPHA:98976
HP:0012372	Abnormal eye morphology	23078	VWA8	OMIM:620422
HP:0012372	Abnormal eye morphology	27235	COQ2	OMIM:146500
HP:0012372	Abnormal eye morphology	3758	KCNJ1	OMIM:241200
HP:0012372	Abnormal eye morphology	545	ATR	OMIM:210600
HP:0012372	Abnormal eye morphology	10273	STUB1	ORPHA:412057
HP:0012372	Abnormal eye morphology	3291	HSD11B2	ORPHA:320
HP:0012372	Abnormal eye morphology	3291	HSD11B2	OMIM:218030
HP:0012372	Abnormal eye morphology	595	CCND1	ORPHA:892
HP:0012372	Abnormal eye morphology	1743	DLST	ORPHA:29072
HP:0012372	Abnormal eye morphology	4191	MDH2	ORPHA:29072
HP:0012372	Abnormal eye morphology	6389	SDHA	ORPHA:29072
HP:0012372	Abnormal eye morphology	23095	KIF1B	ORPHA:29072
HP:0012372	Abnormal eye morphology	8402	SLC25A11	ORPHA:29072
HP:0012372	Abnormal eye morphology	54949	SDHAF2	ORPHA:29072
HP:0012372	Abnormal eye morphology	2034	EPAS1	ORPHA:276621
HP:0012372	Abnormal eye morphology	3141	HLCS	ORPHA:79242
HP:0012372	Abnormal eye morphology	6335	SCN9A	OMIM:133020
HP:0012372	Abnormal eye morphology	54941	RNF125	OMIM:616260
HP:0012372	Abnormal eye morphology	4069	LYZ	OMIM:620658
HP:0012372	Abnormal eye morphology	220074	LRTOMT	OMIM:611451
HP:0012372	Abnormal eye morphology	222662	LHFPL5	OMIM:610265
HP:0012372	Abnormal eye morphology	2677	GGCX	ORPHA:436274
HP:0012372	Abnormal eye morphology	283652	SLC24A5	ORPHA:370097
HP:0012372	Abnormal eye morphology	23262	PPIP5K2	OMIM:618422
HP:0012372	Abnormal eye morphology	9997	SCO2	OMIM:608908
HP:0012372	Abnormal eye morphology	8314	BAP1	ORPHA:39044
HP:0012372	Abnormal eye morphology	57105	CYSLTR2	ORPHA:39044
HP:0012372	Abnormal eye morphology	2767	GNA11	ORPHA:39044
HP:0012372	Abnormal eye morphology	23451	SF3B1	ORPHA:39044
HP:0012372	Abnormal eye morphology	6314	ATXN7	ORPHA:94147
HP:0012372	Abnormal eye morphology	5158	PDE6B	OMIM:163500
HP:0012372	Abnormal eye morphology	6591	SNAI2	ORPHA:895
HP:0012372	Abnormal eye morphology	6591	SNAI2	ORPHA:2884
HP:0012372	Abnormal eye morphology	80153	EDC3	OMIM:616460
HP:0012372	Abnormal eye morphology	3815	KIT	OMIM:172800
HP:0012372	Abnormal eye morphology	3815	KIT	ORPHA:2884
HP:0012372	Abnormal eye morphology	2591	GALNT3	OMIM:211900
HP:0012372	Abnormal eye morphology	6609	SMPD1	OMIM:607616
HP:0012372	Abnormal eye morphology	1509	CTSD	OMIM:610127
HP:0012372	Abnormal eye morphology	63915	BLOC1S5	OMIM:619172
HP:0012372	Abnormal eye morphology	3257	HPS1	OMIM:203300
HP:0012372	Abnormal eye morphology	8546	AP3B1	OMIM:608233
HP:0012372	Abnormal eye morphology	1130	LYST	ORPHA:352723
HP:0012372	Abnormal eye morphology	1130	LYST	OMIM:214500
HP:0012372	Abnormal eye morphology	89781	HPS4	OMIM:614073
HP:0012372	Abnormal eye morphology	11234	HPS5	OMIM:614074
HP:0012372	Abnormal eye morphology	26258	BLOC1S6	OMIM:614171
HP:0012372	Abnormal eye morphology	388552	BLOC1S3	OMIM:614077
HP:0012372	Abnormal eye morphology	79803	HPS6	OMIM:614075
HP:0012372	Abnormal eye morphology	84062	DTNBP1	OMIM:614076
HP:0012372	Abnormal eye morphology	6663	SOX10	OMIM:611584
HP:0012372	Abnormal eye morphology	51151	SLC45A2	ORPHA:79435
HP:0012372	Abnormal eye morphology	4007	PRICKLE3	OMIM:308905
HP:0012372	Abnormal eye morphology	7431	VIM	OMIM:116300
HP:0012372	Abnormal eye morphology	64802	NMNAT1	OMIM:619260
HP:0012372	Abnormal eye morphology	64802	NMNAT1	OMIM:608553
HP:0012372	Abnormal eye morphology	167691	LCA5	ORPHA:364055
HP:0012372	Abnormal eye morphology	25974	MMACHC	ORPHA:79282
HP:0012372	Abnormal eye morphology	4204	MECP2	OMIM:300055
HP:0012372	Abnormal eye morphology	7053	TGM3	OMIM:617251
HP:0012372	Abnormal eye morphology	83959	SLC4A11	OMIM:217400
HP:0012372	Abnormal eye morphology	83959	SLC4A11	OMIM:217700
HP:0012372	Abnormal eye morphology	83959	SLC4A11	ORPHA:1490
HP:0012372	Abnormal eye morphology	83959	SLC4A11	OMIM:613268
HP:0012372	Abnormal eye morphology	4166	CHST6	OMIM:217800
HP:0012372	Abnormal eye morphology	4081	MAB21L1	ORPHA:495875
HP:0012372	Abnormal eye morphology	2717	GLA	OMIM:301500
HP:0012372	Abnormal eye morphology	2717	GLA	ORPHA:324
HP:0012372	Abnormal eye morphology	4070	TACSTD2	OMIM:204870
HP:0012372	Abnormal eye morphology	1634	DCN	OMIM:610048
HP:0012372	Abnormal eye morphology	29914	UBIAD1	OMIM:121800
HP:0012372	Abnormal eye morphology	1308	COL17A1	ORPHA:293381
HP:0012372	Abnormal eye morphology	291	SLC25A4	ORPHA:1369
HP:0012372	Abnormal eye morphology	55750	AGK	ORPHA:1369
HP:0012372	Abnormal eye morphology	2652	OPN1MW	ORPHA:16
HP:0012372	Abnormal eye morphology	5956	OPN1LW	ORPHA:16
HP:0012372	Abnormal eye morphology	3859	KRT12	OMIM:122100
HP:0012372	Abnormal eye morphology	123624	AGBL1	OMIM:615523
HP:0012372	Abnormal eye morphology	3949	LDLR	ORPHA:391665
HP:0012372	Abnormal eye morphology	255738	PCSK9	ORPHA:391665
HP:0012372	Abnormal eye morphology	26119	LDLRAP1	ORPHA:391665
HP:0012372	Abnormal eye morphology	64240	ABCG5	ORPHA:391665
HP:0012372	Abnormal eye morphology	64241	ABCG8	ORPHA:391665
HP:0012372	Abnormal eye morphology	493856	CISD2	OMIM:604928
HP:0012372	Abnormal eye morphology	25915	NDUFAF3	ORPHA:2609
HP:0012372	Abnormal eye morphology	51103	NDUFAF1	ORPHA:2609
HP:0012372	Abnormal eye morphology	91942	NDUFAF2	ORPHA:2609
HP:0012372	Abnormal eye morphology	51300	TIMMDC1	ORPHA:2609
HP:0012372	Abnormal eye morphology	4716	NDUFB10	ORPHA:2609
HP:0012372	Abnormal eye morphology	4723	NDUFV1	ORPHA:2609
HP:0012372	Abnormal eye morphology	55572	FOXRED1	ORPHA:2609
HP:0012372	Abnormal eye morphology	284184	NDUFAF8	ORPHA:2609
HP:0012372	Abnormal eye morphology	55863	TMEM126B	ORPHA:2609
HP:0012372	Abnormal eye morphology	4537	MT-ND3	ORPHA:2609
HP:0012372	Abnormal eye morphology	4729	NDUFV2	ORPHA:2609
HP:0012372	Abnormal eye morphology	4694	NDUFA1	ORPHA:2609
HP:0012372	Abnormal eye morphology	4724	NDUFS4	ORPHA:2609
HP:0012372	Abnormal eye morphology	4724	NDUFS4	OMIM:252010
HP:0012372	Abnormal eye morphology	4726	NDUFS6	ORPHA:2609
HP:0012372	Abnormal eye morphology	4728	NDUFS8	ORPHA:2609
HP:0012372	Abnormal eye morphology	4722	NDUFS3	ORPHA:2609
HP:0012372	Abnormal eye morphology	79133	NDUFAF5	ORPHA:2609
HP:0012372	Abnormal eye morphology	126328	NDUFA11	ORPHA:2609
HP:0012372	Abnormal eye morphology	4709	NDUFB3	ORPHA:2609
HP:0012372	Abnormal eye morphology	80224	NUBPL	ORPHA:2609
HP:0012372	Abnormal eye morphology	29078	NDUFAF4	ORPHA:2609
HP:0012372	Abnormal eye morphology	374291	NDUFS7	ORPHA:2609
HP:0012372	Abnormal eye morphology	4700	NDUFA6	ORPHA:2609
HP:0012372	Abnormal eye morphology	4719	NDUFS1	ORPHA:2609
HP:0012372	Abnormal eye morphology	4715	NDUFB9	ORPHA:2609
HP:0012372	Abnormal eye morphology	91574	MTRFR	ORPHA:320375
HP:0012372	Abnormal eye morphology	6709	SPTAN1	OMIM:620538
HP:0012372	Abnormal eye morphology	51079	NDUFA13	OMIM:618249
HP:0012372	Abnormal eye morphology	10102	TSFM	OMIM:610505
HP:0012372	Abnormal eye morphology	1121	CHM	OMIM:303100
HP:0012372	Abnormal eye morphology	1121	CHM	ORPHA:180
HP:0012372	Abnormal eye morphology	1969	EPHA2	OMIM:116600
HP:0012372	Abnormal eye morphology	5332	PLCB4	OMIM:620458
HP:0012372	Abnormal eye morphology	5728	PTEN	ORPHA:2969
HP:0012372	Abnormal eye morphology	10992	SF3B2	OMIM:164210
HP:0012372	Abnormal eye morphology	1285	COL4A3	OMIM:104200
HP:0012372	Abnormal eye morphology	1301	COL11A1	OMIM:604841
HP:0012372	Abnormal eye morphology	1301	COL11A1	ORPHA:560
HP:0012372	Abnormal eye morphology	1301	COL11A1	ORPHA:90654
HP:0012372	Abnormal eye morphology	1280	COL2A1	ORPHA:90653
HP:0012372	Abnormal eye morphology	1280	COL2A1	ORPHA:93296
HP:0012372	Abnormal eye morphology	5062	PAK2	ORPHA:1571
HP:0012372	Abnormal eye morphology	57096	RPGRIP1	OMIM:613826
HP:0012372	Abnormal eye morphology	114902	C1QTNF5	ORPHA:67042
HP:0012372	Abnormal eye morphology	2811	GP1BA	OMIM:258660
HP:0012372	Abnormal eye morphology	4595	MUTYH	ORPHA:247798
HP:0012372	Abnormal eye morphology	406960	MIR184	OMIM:614303
HP:0012372	Abnormal eye morphology	5309	PITX3	OMIM:107250
HP:0012372	Abnormal eye morphology	30813	VSX1	OMIM:614195
HP:0012372	Abnormal eye morphology	6873	TAF2	ORPHA:397951
HP:0012372	Abnormal eye morphology	7274	TTPA	ORPHA:96
HP:0012372	Abnormal eye morphology	54476	RNF216	ORPHA:1173
HP:0012372	Abnormal eye morphology	51626	DYNC2LI1	ORPHA:474
HP:0012372	Abnormal eye morphology	79809	TTC21B	ORPHA:474
HP:0012372	Abnormal eye morphology	4308	TRPM1	ORPHA:215
HP:0012372	Abnormal eye morphology	57010	CABP4	ORPHA:215
HP:0012372	Abnormal eye morphology	345193	LRIT3	ORPHA:215
HP:0012372	Abnormal eye morphology	2916	GRM6	ORPHA:215
HP:0012372	Abnormal eye morphology	440435	GPR179	ORPHA:215
HP:0012372	Abnormal eye morphology	2784	GNB3	ORPHA:215
HP:0012372	Abnormal eye morphology	2779	GNAT1	ORPHA:215
HP:0012372	Abnormal eye morphology	60506	NYX	ORPHA:215
HP:0012372	Abnormal eye morphology	56980	PRDM10	ORPHA:122
HP:0012372	Abnormal eye morphology	8930	MBD4	OMIM:619975
HP:0012372	Abnormal eye morphology	8930	MBD4	OMIM:606660
HP:0012372	Abnormal eye morphology	673	BRAF	OMIM:155600
HP:0012372	Abnormal eye morphology	6794	STK11	OMIM:155600
HP:0012372	Abnormal eye morphology	224	ALDH3A2	OMIM:270200
HP:0012372	Abnormal eye morphology	4692	NDN	ORPHA:177904
HP:0012372	Abnormal eye morphology	4692	NDN	ORPHA:177901
HP:0012372	Abnormal eye morphology	4692	NDN	ORPHA:177910
HP:0012372	Abnormal eye morphology	4692	NDN	ORPHA:98754
HP:0012372	Abnormal eye morphology	57194	ATP10A	ORPHA:411515
HP:0012372	Abnormal eye morphology	5873	RAB27A	ORPHA:79477
HP:0012372	Abnormal eye morphology	79083	MLPH	ORPHA:79478
HP:0012372	Abnormal eye morphology	7360	UGP2	OMIM:618744
HP:0012372	Abnormal eye morphology	2588	GALNS	OMIM:253000
HP:0012372	Abnormal eye morphology	2312	FLG	ORPHA:461
HP:0012372	Abnormal eye morphology	84572	GNPTG	OMIM:252605
HP:0012372	Abnormal eye morphology	6399	TRAPPC2	OMIM:313400
HP:0012372	Abnormal eye morphology	2658	GDF2	ORPHA:774
HP:0012372	Abnormal eye morphology	94	ACVRL1	ORPHA:774
HP:0012372	Abnormal eye morphology	2022	ENG	ORPHA:774
HP:0012372	Abnormal eye morphology	79991	STN1	OMIM:617341
HP:0012372	Abnormal eye morphology	5111	PCNA	ORPHA:438134
HP:0012372	Abnormal eye morphology	4536	MT-ND2	ORPHA:104
HP:0012372	Abnormal eye morphology	4538	MT-ND4	ORPHA:104
HP:0012372	Abnormal eye morphology	4720	NDUFS2	ORPHA:104
HP:0012372	Abnormal eye morphology	4539	MT-ND4L	ORPHA:104
HP:0012372	Abnormal eye morphology	54802	TRIT1	OMIM:617873
HP:0012372	Abnormal eye morphology	5361	PLXNA1	OMIM:619955
HP:0012372	Abnormal eye morphology	3982	LIM2	OMIM:615277
HP:0012372	Abnormal eye morphology	128866	CHMP4B	OMIM:605387
HP:0012372	Abnormal eye morphology	146862	UNC45B	OMIM:616279
HP:0012372	Abnormal eye morphology	889	KRIT1	OMIM:116860
HP:0012372	Abnormal eye morphology	29894	CPSF1	OMIM:618827
HP:0012372	Abnormal eye morphology	4043	LRPAP1	OMIM:615431
HP:0012372	Abnormal eye morphology	84196	USP48	ORPHA:96253
HP:0012372	Abnormal eye morphology	9101	USP8	ORPHA:96253
HP:0012372	Abnormal eye morphology	2908	NR3C1	ORPHA:96253
HP:0012372	Abnormal eye morphology	8600	TNFSF11	ORPHA:667
HP:0012372	Abnormal eye morphology	149233	IL23R	ORPHA:117
HP:0012372	Abnormal eye morphology	3586	IL10	ORPHA:117
HP:0012372	Abnormal eye morphology	4210	MEFV	ORPHA:117
HP:0012372	Abnormal eye morphology	1230	CCR1	ORPHA:117
HP:0012372	Abnormal eye morphology	3592	IL12A	ORPHA:117
HP:0012372	Abnormal eye morphology	101928376	IL12A-AS1	ORPHA:117
HP:0012372	Abnormal eye morphology	7099	TLR4	ORPHA:117
HP:0012372	Abnormal eye morphology	3459	IFNGR1	ORPHA:117
HP:0012372	Abnormal eye morphology	720	C4A	ORPHA:117
HP:0012372	Abnormal eye morphology	337867	UBAC2	ORPHA:117
HP:0012372	Abnormal eye morphology	51752	ERAP1	ORPHA:117
HP:0012372	Abnormal eye morphology	8302	KLRC4	ORPHA:117
HP:0012372	Abnormal eye morphology	27072	VPS41	OMIM:619389
HP:0012372	Abnormal eye morphology	4627	MYH9	ORPHA:182050
HP:0012372	Abnormal eye morphology	4507	MTAP	OMIM:112250
HP:0012372	Abnormal eye morphology	3081	HGD	ORPHA:56
HP:0012372	Abnormal eye morphology	3081	HGD	OMIM:203500
HP:0012372	Abnormal eye morphology	5573	PRKAR1A	OMIM:160980
HP:0012372	Abnormal eye morphology	7276	TTR	OMIM:105210
HP:0012372	Abnormal eye morphology	64801	ARV1	OMIM:617020
HP:0012372	Abnormal eye morphology	22926	ATF6	ORPHA:1872
HP:0012372	Abnormal eye morphology	22926	ATF6	ORPHA:49382
HP:0012372	Abnormal eye morphology	84839	RAX2	ORPHA:1872
HP:0012372	Abnormal eye morphology	84839	RAX2	OMIM:620102
HP:0012372	Abnormal eye morphology	1261	CNGA3	ORPHA:1872
HP:0012372	Abnormal eye morphology	1261	CNGA3	ORPHA:49382
HP:0012372	Abnormal eye morphology	778	CACNA1F	ORPHA:1872
HP:0012372	Abnormal eye morphology	8754	ADAM9	ORPHA:1872
HP:0012372	Abnormal eye morphology	22999	RIMS1	ORPHA:1872
HP:0012372	Abnormal eye morphology	128338	DRAM2	ORPHA:1872
HP:0012372	Abnormal eye morphology	9094	UNC119	ORPHA:1872
HP:0012372	Abnormal eye morphology	9094	UNC119	OMIM:620342
HP:0012372	Abnormal eye morphology	93589	CACNA2D4	ORPHA:1872
HP:0012372	Abnormal eye morphology	2978	GUCA1A	ORPHA:1872
HP:0012372	Abnormal eye morphology	282809	POC1B	ORPHA:1872
HP:0012372	Abnormal eye morphology	83394	PITPNM3	ORPHA:1872
HP:0012372	Abnormal eye morphology	23093	TTLL5	ORPHA:1872
HP:0012372	Abnormal eye morphology	83723	TLCD3B	ORPHA:1872
HP:0012372	Abnormal eye morphology	83723	TLCD3B	OMIM:619531
HP:0012372	Abnormal eye morphology	9364	RAB28	ORPHA:1872
HP:0012372	Abnormal eye morphology	26504	CNNM4	OMIM:217080
HP:0012372	Abnormal eye morphology	2257	FGF12	OMIM:617166
HP:0012372	Abnormal eye morphology	3098	HK1	OMIM:617460
HP:0012372	Abnormal eye morphology	6742	SSBP1	OMIM:165510
HP:0012372	Abnormal eye morphology	5146	PDE6C	ORPHA:49382
HP:0012372	Abnormal eye morphology	5149	PDE6H	ORPHA:49382
HP:0012372	Abnormal eye morphology	2780	GNAT2	ORPHA:49382
HP:0012372	Abnormal eye morphology	9187	SLC24A1	OMIM:613830
HP:0012372	Abnormal eye morphology	6533	SLC6A6	OMIM:145350
HP:0012372	Abnormal eye morphology	23155	CLCC1	OMIM:609913
HP:0012372	Abnormal eye morphology	116150	NUS1	OMIM:617082
HP:0012372	Abnormal eye morphology	51095	TRNT1	OMIM:616959
HP:0012372	Abnormal eye morphology	8449	DHX16	OMIM:618733
HP:0012372	Abnormal eye morphology	11235	PDCD10	ORPHA:221061
HP:0012372	Abnormal eye morphology	83605	CCM2	ORPHA:221061
HP:0012372	Abnormal eye morphology	10166	SLC25A15	OMIM:238970
HP:0012372	Abnormal eye morphology	5624	PROC	OMIM:612304
HP:0012372	Abnormal eye morphology	26278	SACS	ORPHA:98
HP:0012372	Abnormal eye morphology	26278	SACS	OMIM:270550
HP:0012372	Abnormal eye morphology	4758	NEU1	ORPHA:93399
HP:0012372	Abnormal eye morphology	4758	NEU1	ORPHA:812
HP:0012372	Abnormal eye morphology	4758	NEU1	ORPHA:93400
HP:0012372	Abnormal eye morphology	411	ARSB	OMIM:253200
HP:0012372	Abnormal eye morphology	427	ASAH1	ORPHA:333
HP:0012372	Abnormal eye morphology	5980	REV3L	ORPHA:570
HP:0012372	Abnormal eye morphology	23129	PLXND1	ORPHA:570
HP:0012372	Abnormal eye morphology	9213	XPR1	ORPHA:1980
HP:0012372	Abnormal eye morphology	57462	MYORG	ORPHA:1980
HP:0012372	Abnormal eye morphology	6575	SLC20A2	ORPHA:1980
HP:0012372	Abnormal eye morphology	58494	JAM2	ORPHA:1980
HP:0012372	Abnormal eye morphology	412	STS	ORPHA:281090
HP:0012372	Abnormal eye morphology	6768	ST14	OMIM:602400
HP:0012372	Abnormal eye morphology	6898	TAT	ORPHA:28378
HP:0012372	Abnormal eye morphology	2707	GJB3	ORPHA:317
HP:0012372	Abnormal eye morphology	2531	KDSR	ORPHA:317
HP:0012372	Abnormal eye morphology	127534	GJB4	ORPHA:317
HP:0012372	Abnormal eye morphology	5476	CTSA	ORPHA:351
HP:0012372	Abnormal eye morphology	4762	NEUROG1	OMIM:620469
HP:0012372	Abnormal eye morphology	285362	SUMF1	OMIM:272200
HP:0012372	Abnormal eye morphology	285362	SUMF1	ORPHA:585
HP:0012372	Abnormal eye morphology	2990	GUSB	ORPHA:584
HP:0012372	Abnormal eye morphology	2990	GUSB	OMIM:253220
HP:0012372	Abnormal eye morphology	162514	TRPV3	OMIM:614594
HP:0012372	Abnormal eye morphology	50485	SMARCAL1	ORPHA:1830
HP:0012372	Abnormal eye morphology	3931	LCAT	ORPHA:79292
HP:0012372	Abnormal eye morphology	57192	MCOLN1	ORPHA:578
HP:0012372	Abnormal eye morphology	57192	MCOLN1	OMIM:252650
HP:0012372	Abnormal eye morphology	19	ABCA1	ORPHA:31150
HP:0012372	Abnormal eye morphology	55612	FERMT1	ORPHA:2908
HP:0012372	Abnormal eye morphology	10848	PPP1R13L	OMIM:620519
HP:0012372	Abnormal eye morphology	10516	FBLN5	ORPHA:90348
HP:0012372	Abnormal eye morphology	9939	RBM8A	OMIM:274000
HP:0012372	Abnormal eye morphology	3852	KRT5	ORPHA:79396
HP:0012372	Abnormal eye morphology	3861	KRT14	ORPHA:79396
HP:0012372	Abnormal eye morphology	54808	DYM	ORPHA:239
HP:0012372	Abnormal eye morphology	9842	PLEKHM1	ORPHA:210110
HP:0012372	Abnormal eye morphology	200576	PIKFYVE	OMIM:121850
HP:0012372	Abnormal eye morphology	1495	CTNNA1	OMIM:608970
HP:0012372	Abnormal eye morphology	2065	ERBB3	OMIM:607598
HP:0012372	Abnormal eye morphology	1427	CRYGS	OMIM:116100
HP:0012372	Abnormal eye morphology	631	BFSP1	OMIM:611391
HP:0012372	Abnormal eye morphology	4284	MIP	OMIM:615274
HP:0012372	Abnormal eye morphology	4010	LMX1B	ORPHA:2614
HP:0012372	Abnormal eye morphology	4615	MYD88	ORPHA:33226
HP:0012372	Abnormal eye morphology	92840	REEP6	ORPHA:791
HP:0012372	Abnormal eye morphology	6094	ROM1	ORPHA:791
HP:0012372	Abnormal eye morphology	7401	CLRN1	ORPHA:791
HP:0012372	Abnormal eye morphology	130557	ZNF513	ORPHA:791
HP:0012372	Abnormal eye morphology	582	BBS1	ORPHA:791
HP:0012372	Abnormal eye morphology	92211	CDHR1	ORPHA:791
HP:0012372	Abnormal eye morphology	23568	ARL2BP	ORPHA:791
HP:0012372	Abnormal eye morphology	6121	RPE65	ORPHA:791
HP:0012372	Abnormal eye morphology	6101	RP1	ORPHA:791
HP:0012372	Abnormal eye morphology	3419	IDH3A	ORPHA:791
HP:0012372	Abnormal eye morphology	4751	NEK2	ORPHA:791
HP:0012372	Abnormal eye morphology	346007	EYS	ORPHA:791
HP:0012372	Abnormal eye morphology	8100	IFT88	ORPHA:791
HP:0012372	Abnormal eye morphology	23020	SNRNP200	ORPHA:791
HP:0012372	Abnormal eye morphology	762	CA4	ORPHA:791
HP:0012372	Abnormal eye morphology	138050	HGSNAT	ORPHA:791
HP:0012372	Abnormal eye morphology	196	AHR	ORPHA:791
HP:0012372	Abnormal eye morphology	3614	IMPDH1	ORPHA:791
HP:0012372	Abnormal eye morphology	123016	TTC8	ORPHA:791
HP:0012372	Abnormal eye morphology	6103	RPGR	ORPHA:791
HP:0012372	Abnormal eye morphology	1406	CRX	ORPHA:791
HP:0012372	Abnormal eye morphology	5148	PDE6G	ORPHA:791
HP:0012372	Abnormal eye morphology	26160	IFT172	ORPHA:791
HP:0012372	Abnormal eye morphology	26121	PRPF31	ORPHA:791
HP:0012372	Abnormal eye morphology	583	BBS2	ORPHA:791
HP:0012372	Abnormal eye morphology	4117	MAK	ORPHA:791
HP:0012372	Abnormal eye morphology	25794	FSCN2	ORPHA:791
HP:0012372	Abnormal eye morphology	375298	CERKL	ORPHA:791
HP:0012372	Abnormal eye morphology	3420	IDH3B	ORPHA:791
HP:0012372	Abnormal eye morphology	57670	KIAA1549	ORPHA:791
HP:0012372	Abnormal eye morphology	7275	TUB	ORPHA:791
HP:0012372	Abnormal eye morphology	24148	PRPF6	ORPHA:791
HP:0012372	Abnormal eye morphology	10461	MERTK	ORPHA:791
HP:0012372	Abnormal eye morphology	57709	SLC7A14	ORPHA:791
HP:0012372	Abnormal eye morphology	768206	PRCD	ORPHA:791
HP:0012372	Abnormal eye morphology	7399	USH2A	ORPHA:791
HP:0012372	Abnormal eye morphology	23370	ARHGEF18	ORPHA:791
HP:0012372	Abnormal eye morphology	5949	RBP3	ORPHA:791
HP:0012372	Abnormal eye morphology	6010	RHO	ORPHA:791
HP:0012372	Abnormal eye morphology	6100	RP9	ORPHA:791
HP:0012372	Abnormal eye morphology	10002	NR2E3	ORPHA:791
HP:0012372	Abnormal eye morphology	9227	LRAT	ORPHA:791
HP:0012372	Abnormal eye morphology	84140	FAM161A	ORPHA:791
HP:0012372	Abnormal eye morphology	55812	SPATA7	ORPHA:791
HP:0012372	Abnormal eye morphology	79797	ZNF408	ORPHA:791
HP:0012372	Abnormal eye morphology	5145	PDE6A	ORPHA:791
HP:0012372	Abnormal eye morphology	10210	TOPORS	ORPHA:791
HP:0012372	Abnormal eye morphology	9128	PRPF4	ORPHA:791
HP:0012372	Abnormal eye morphology	145226	RDH12	ORPHA:791
HP:0012372	Abnormal eye morphology	50939	IMPG2	ORPHA:791
HP:0012372	Abnormal eye morphology	49855	SCAPER	ORPHA:791
HP:0012372	Abnormal eye morphology	9742	IFT140	ORPHA:791
HP:0012372	Abnormal eye morphology	2979	GUCA1B	ORPHA:791
HP:0012372	Abnormal eye morphology	1259	CNGA1	ORPHA:791
HP:0012372	Abnormal eye morphology	1258	CNGB1	ORPHA:791
HP:0012372	Abnormal eye morphology	60509	AGBL5	ORPHA:791
HP:0012372	Abnormal eye morphology	388939	PCARE	ORPHA:791
HP:0012372	Abnormal eye morphology	9785	DHX38	ORPHA:791
HP:0012372	Abnormal eye morphology	7287	TULP1	ORPHA:791
HP:0012372	Abnormal eye morphology	5995	RGR	ORPHA:791
HP:0012372	Abnormal eye morphology	9129	PRPF3	ORPHA:791
HP:0012372	Abnormal eye morphology	55975	KLHL7	ORPHA:791
HP:0012372	Abnormal eye morphology	3617	IMPG1	ORPHA:791
HP:0012372	Abnormal eye morphology	94137	RP1L1	ORPHA:791
HP:0012372	Abnormal eye morphology	6102	RP2	ORPHA:791
HP:0012372	Abnormal eye morphology	55857	KIZ	ORPHA:791
HP:0012372	Abnormal eye morphology	64218	SEMA4A	ORPHA:791
HP:0012372	Abnormal eye morphology	4901	NRL	ORPHA:791
HP:0012372	Abnormal eye morphology	157657	CFAP418	ORPHA:791
HP:0012372	Abnormal eye morphology	10594	PRPF8	ORPHA:791
HP:0012372	Abnormal eye morphology	84100	ARL6	ORPHA:791
HP:0012372	Abnormal eye morphology	6295	SAG	ORPHA:791
HP:0012372	Abnormal eye morphology	79947	DHDDS	ORPHA:791
HP:0012372	Abnormal eye morphology	11277	TREX1	ORPHA:247691
HP:0012372	Abnormal eye morphology	1593	CYP27A1	ORPHA:909
HP:0012372	Abnormal eye morphology	23474	ETHE1	OMIM:602473
HP:0012372	Abnormal eye morphology	22947	DUX4L1	ORPHA:269
HP:0012372	Abnormal eye morphology	1789	DNMT3B	ORPHA:269
HP:0012372	Abnormal eye morphology	2483	FRG1	ORPHA:269
HP:0012372	Abnormal eye morphology	100288687	DUX4	ORPHA:269
HP:0012372	Abnormal eye morphology	7490	WT1	ORPHA:893
HP:0012372	Abnormal eye morphology	627	BDNF	ORPHA:893
HP:0012372	Abnormal eye morphology	6804	STX1A	ORPHA:904
HP:0012372	Abnormal eye morphology	7461	CLIP2	ORPHA:904
HP:0012372	Abnormal eye morphology	84277	DNAJC30	ORPHA:904
HP:0012372	Abnormal eye morphology	8468	FKBP6	ORPHA:904
HP:0012372	Abnormal eye morphology	5982	RFC2	ORPHA:904
HP:0012372	Abnormal eye morphology	2969	GTF2I	ORPHA:904
HP:0012372	Abnormal eye morphology	3984	LIMK1	ORPHA:904
HP:0012372	Abnormal eye morphology	9569	GTF2IRD1	ORPHA:904
HP:0012372	Abnormal eye morphology	155382	VPS37D	ORPHA:904
HP:0012372	Abnormal eye morphology	155368	METTL27	ORPHA:904
HP:0012372	Abnormal eye morphology	114049	BUD23	ORPHA:904
HP:0012372	Abnormal eye morphology	7458	EIF4H	ORPHA:904
HP:0012372	Abnormal eye morphology	84163	GTF2IRD2	ORPHA:904
HP:0012372	Abnormal eye morphology	26608	TBL2	ORPHA:904
HP:0012372	Abnormal eye morphology	653361	NCF1	ORPHA:904
HP:0012372	Abnormal eye morphology	135886	TMEM270	ORPHA:904
HP:0012372	Abnormal eye morphology	9031	BAZ1B	ORPHA:904
HP:0012372	Abnormal eye morphology	6023	RMRP	ORPHA:175
HP:0012372	Abnormal eye morphology	6905	TBCE	ORPHA:2323
HP:0012372	Abnormal eye morphology	1717	DHCR7	ORPHA:818
HP:0012372	Abnormal eye morphology	3339	HSPG2	ORPHA:800
HP:0012372	Abnormal eye morphology	84282	RNF135	ORPHA:137634
HP:0012372	Abnormal eye morphology	3458	IFNG	OMIM:613254
HP:0012372	Abnormal eye morphology	3458	IFNG	ORPHA:805
HP:0012372	Abnormal eye morphology	7249	TSC2	OMIM:613254
HP:0012372	Abnormal eye morphology	7249	TSC2	ORPHA:805
HP:0012372	Abnormal eye morphology	7249	TSC2	ORPHA:538
HP:0012372	Abnormal eye morphology	7248	TSC1	ORPHA:805
HP:0012372	Abnormal eye morphology	7248	TSC1	OMIM:191100
HP:0012372	Abnormal eye morphology	7248	TSC1	ORPHA:538
HP:0012372	Abnormal eye morphology	2956	MSH6	OMIM:619097
HP:0012372	Abnormal eye morphology	5396	PRRX1	ORPHA:990
HP:0012372	Abnormal eye morphology	29926	GMPPA	OMIM:615510
HP:0012372	Abnormal eye morphology	8086	AAAS	OMIM:231550
HP:0012372	Abnormal eye morphology	7157	TP53	OMIM:259500
HP:0012372	Abnormal eye morphology	11200	CHEK2	OMIM:259500
HP:0012372	Abnormal eye morphology	35	ACADS	OMIM:201470
HP:0012372	Abnormal eye morphology	3074	HEXB	ORPHA:309155
HP:0012372	Abnormal eye morphology	3074	HEXB	OMIM:268800
HP:0012372	Abnormal eye morphology	2581	GALC	ORPHA:206436
HP:0012372	Abnormal eye morphology	5660	PSAP	ORPHA:206436
HP:0012372	Abnormal eye morphology	3073	HEXA	OMIM:272800
HP:0012372	Abnormal eye morphology	1615	DARS1	OMIM:615281
HP:0012372	Abnormal eye morphology	2760	GM2A	ORPHA:309246
HP:0012372	Abnormal eye morphology	10730	YME1L1	OMIM:617302
HP:0012372	Abnormal eye morphology	3299	HSF4	OMIM:116800
HP:0012372	Abnormal eye morphology	2700	GJA3	OMIM:601885
HP:0012372	Abnormal eye morphology	55229	PANK4	OMIM:619593
HP:0012372	Abnormal eye morphology	29887	SNX10	OMIM:615085
HP:0012372	Abnormal eye morphology	114928	GPRASP2	OMIM:301018
HP:0012372	Abnormal eye morphology	6720	SREBF1	OMIM:158310
HP:0012372	Abnormal eye morphology	54675	CRLS1	OMIM:620167
HP:0012372	Abnormal eye morphology	3075	CFH	ORPHA:75376
HP:0012372	Abnormal eye morphology	3426	CFI	ORPHA:75376
HP:0012372	Abnormal eye morphology	3426	CFI	OMIM:615439
HP:0012372	Abnormal eye morphology	1181	CLCN2	OMIM:615651
HP:0012372	Abnormal eye morphology	7867	MAPKAPK3	OMIM:617111
HP:0012372	Abnormal eye morphology	189	AGXT	OMIM:259900
HP:0012372	Abnormal eye morphology	7123	CLEC3B	OMIM:619977
HP:0012372	Abnormal eye morphology	10878	CFHR3	OMIM:603075
HP:0012372	Abnormal eye morphology	83872	HMCN1	OMIM:603075
HP:0012372	Abnormal eye morphology	3078	CFHR1	OMIM:603075
HP:0012372	Abnormal eye morphology	2192	FBLN1	ORPHA:404451
HP:0012372	Abnormal eye morphology	92154	MTSS2	OMIM:620086
HP:0012372	Abnormal eye morphology	488	ATP2A2	ORPHA:218
HP:0012372	Abnormal eye morphology	5322	PLA2G5	OMIM:228980
HP:0012372	Abnormal eye morphology	144811	LACC1	ORPHA:85414
HP:0012372	Abnormal eye morphology	4282	MIF	ORPHA:85414
HP:0012372	Abnormal eye morphology	3569	IL6	ORPHA:85414
HP:0012372	Abnormal eye morphology	7128	TNFAIP3	OMIM:616744
HP:0012372	Abnormal eye morphology	330	BIRC3	ORPHA:52417
HP:0012372	Abnormal eye morphology	10892	MALT1	ORPHA:52417
HP:0012372	Abnormal eye morphology	3492	IGH	ORPHA:52417
HP:0012372	Abnormal eye morphology	8915	BCL10	ORPHA:52417
HP:0012372	Abnormal eye morphology	7253	TSHR	ORPHA:424
HP:0012372	Abnormal eye morphology	9839	ZEB2	OMIM:235730
HP:0012372	Abnormal eye morphology	55033	FKBP14	ORPHA:300179
HP:0012372	Abnormal eye morphology	2161	F12	ORPHA:330
HP:0012372	Abnormal eye morphology	462	SERPINC1	ORPHA:82
HP:0012372	Abnormal eye morphology	136371	ASB10	OMIM:603383
HP:0012372	Abnormal eye morphology	4547	MTTP	ORPHA:14
HP:0012372	Abnormal eye morphology	1638	DCT	OMIM:619165
HP:0012372	Abnormal eye morphology	11152	WDR45	OMIM:615179
HP:0012372	Abnormal eye morphology	83938	LRMDA	OMIM:615179
HP:0012372	Abnormal eye morphology	54487	DGCR8	OMIM:192430
HP:0012372	Abnormal eye morphology	8214	DGCR6	OMIM:192430
HP:0012372	Abnormal eye morphology	8220	ESS2	OMIM:192430
HP:0012372	Abnormal eye morphology	9993	DGCR2	OMIM:192430
HP:0012372	Abnormal eye morphology	85465	SELENOI	OMIM:618768
HP:0012372	Abnormal eye morphology	344658	SAMD7	OMIM:620762
HP:0012372	Abnormal eye morphology	10625	IVNS1ABP	OMIM:618969
HP:0012372	Abnormal eye morphology	3932	LCK	OMIM:615758
HP:0012372	Abnormal eye morphology	5965	RECQL	OMIM:620370
HP:0012372	Abnormal eye morphology	710	SERPING1	ORPHA:100050
HP:0012372	Abnormal eye morphology	3490	IGFBP7	OMIM:614224
HP:0012372	Abnormal eye morphology	27151	CPAMD8	OMIM:617319
HP:0012372	Abnormal eye morphology	6935	ZEB1	ORPHA:98973
HP:0012372	Abnormal eye morphology	79977	GRHL2	ORPHA:98973
HP:0012372	Abnormal eye morphology	1296	COL8A2	ORPHA:98973
HP:0012372	Abnormal eye morphology	2670	GFAP	OMIM:203450
HP:0012372	Abnormal eye morphology	1798	DPAGT1	ORPHA:86309
HP:0012372	Abnormal eye morphology	9699	RIMS2	OMIM:618970
HP:0012372	Abnormal eye morphology	9371	KIF3B	OMIM:618955
HP:0012372	Abnormal eye morphology	2673	GFPT1	OMIM:610542
HP:0012372	Abnormal eye morphology	2615	LRRC32	OMIM:619074
HP:0012372	Abnormal eye morphology	6011	GRK1	OMIM:613411
HP:0012372	Abnormal eye morphology	6011	GRK1	ORPHA:75382
HP:0012372	Abnormal eye morphology	6247	RS1	ORPHA:792
HP:0012372	Abnormal eye morphology	6247	RS1	OMIM:312700
HP:0012372	Abnormal eye morphology	27183	VPS4A	OMIM:619273
HP:0012372	Abnormal eye morphology	755	CFAP410	OMIM:617547
HP:0012372	Abnormal eye morphology	402	ARL2	OMIM:619082
HP:0012372	Abnormal eye morphology	4157	MC1R	ORPHA:79432
HP:0012372	Abnormal eye morphology	4948	OCA2	ORPHA:79432
HP:0012372	Abnormal eye morphology	51604	PIGT	ORPHA:369837
HP:0012372	Abnormal eye morphology	4137	MAPT	ORPHA:240071
HP:0012372	Abnormal eye morphology	6472	SHMT2	OMIM:619121
HP:0012372	Abnormal eye morphology	5959	RDH5	ORPHA:52427
HP:0012372	Abnormal eye morphology	10804	GJB6	ORPHA:477
HP:0012372	Abnormal eye morphology	2706	GJB2	ORPHA:477
HP:0012372	Abnormal eye morphology	2261	FGFR3	ORPHA:2363
HP:0012372	Abnormal eye morphology	2255	FGF10	ORPHA:2363
HP:0012372	Abnormal eye morphology	4921	DDR2	OMIM:618175
HP:0012372	Abnormal eye morphology	51134	CEP83	OMIM:615862
HP:0012372	Abnormal eye morphology	10935	PRDX3	OMIM:619871
HP:0012372	Abnormal eye morphology	6492	SIM1	ORPHA:398079
HP:0012372	Abnormal eye morphology	125988	MICOS13	OMIM:618329
HP:0012372	Abnormal eye morphology	2068	ERCC2	ORPHA:910
HP:0012372	Abnormal eye morphology	7507	XPA	ORPHA:910
HP:0012372	Abnormal eye morphology	2071	ERCC3	ORPHA:910
HP:0012372	Abnormal eye morphology	7508	XPC	ORPHA:910
HP:0012372	Abnormal eye morphology	1643	DDB2	ORPHA:910
HP:0012372	Abnormal eye morphology	2072	ERCC4	ORPHA:910
HP:0012372	Abnormal eye morphology	2073	ERCC5	ORPHA:910
HP:0012372	Abnormal eye morphology	10216	PRG4	ORPHA:2848
HP:0012372	Abnormal eye morphology	79443	FYCO1	OMIM:610019
HP:0012372	Abnormal eye morphology	1493	CTLA4	ORPHA:900
HP:0012372	Abnormal eye morphology	3115	HLA-DPB1	ORPHA:900
HP:0012372	Abnormal eye morphology	5657	PRTN3	ORPHA:900
HP:0012372	Abnormal eye morphology	3113	HLA-DPA1	ORPHA:900
HP:0012372	Abnormal eye morphology	7390	UROS	ORPHA:79277
HP:0012372	Abnormal eye morphology	2623	GATA1	ORPHA:79277
HP:0012372	Abnormal eye morphology	7389	UROD	ORPHA:95159
HP:0012372	Abnormal eye morphology	55315	SLC29A3	OMIM:602782
HP:0012372	Abnormal eye morphology	5696	PSMB8	OMIM:256040
HP:0012372	Abnormal eye morphology	113457	TUBA3D	OMIM:617928
HP:0012372	Abnormal eye morphology	91851	CHRDL1	OMIM:309300
HP:0012372	Abnormal eye morphology	170691	ADAMTS17	OMIM:613195
HP:0012372	Abnormal eye morphology	23291	FBXW11	OMIM:618914
HP:0012372	Abnormal eye morphology	2296	FOXC1	ORPHA:250923
HP:0012372	Abnormal eye morphology	54765	TRIM44	ORPHA:250923
HP:0012372	Abnormal eye morphology	3858	KRT10	ORPHA:312
HP:0012372	Abnormal eye morphology	3848	KRT1	ORPHA:312
HP:0012372	Abnormal eye morphology	153642	ARSK	OMIM:619698
HP:0012372	Abnormal eye morphology	23432	GPR161	ORPHA:95496
HP:0012372	Abnormal eye morphology	23729	SHPK	ORPHA:440713
HP:0012372	Abnormal eye morphology	55154	MSTO1	ORPHA:502423
HP:0012372	Abnormal eye morphology	4312	MMP1	ORPHA:79408
HP:0012372	Abnormal eye morphology	540	ATP7B	ORPHA:905
HP:0012372	Abnormal eye morphology	540	ATP7B	OMIM:277900
HP:0012372	Abnormal eye morphology	1804	DPP6	OMIM:616311
HP:0012372	Abnormal eye morphology	285440	CYP4V2	ORPHA:41751
HP:0012372	Abnormal eye morphology	170692	ADAMTS18	OMIM:615458
HP:0012372	Abnormal eye morphology	7407	VARS1	OMIM:617802
HP:0012372	Abnormal eye morphology	4327	MMP19	OMIM:611543
HP:0012373	Abnormal eye physiology	5087	PBX1	ORPHA:97362
HP:0012373	Abnormal eye physiology	51256	TBC1D7	OMIM:248000
HP:0012373	Abnormal eye physiology	9759	HDAC4	OMIM:619797
HP:0012373	Abnormal eye physiology	30000	TNPO2	OMIM:619556
HP:0012373	Abnormal eye physiology	9158	FIBP	ORPHA:500095
HP:0012373	Abnormal eye physiology	64116	SLC39A8	OMIM:616721
HP:0012373	Abnormal eye physiology	64116	SLC39A8	ORPHA:468699
HP:0012373	Abnormal eye physiology	54973	INTS11	OMIM:620428
HP:0012373	Abnormal eye physiology	3008	H1-4	OMIM:617537
HP:0012373	Abnormal eye physiology	7003	TEAD1	OMIM:108985
HP:0012373	Abnormal eye physiology	64324	NSD1	ORPHA:821
HP:0012373	Abnormal eye physiology	10297	APC2	ORPHA:821
HP:0012373	Abnormal eye physiology	55593	OTUD5	OMIM:301056
HP:0012373	Abnormal eye physiology	4125	MAN2B1	ORPHA:309282
HP:0012373	Abnormal eye physiology	5575	PRKAR1B	OMIM:619680
HP:0012373	Abnormal eye physiology	146167	SLC38A8	OMIM:609218
HP:0012373	Abnormal eye physiology	6812	STXBP1	ORPHA:495818
HP:0012373	Abnormal eye physiology	6905	TBCE	ORPHA:2323
HP:0012373	Abnormal eye physiology	10686	CLDN16	OMIM:248250
HP:0012373	Abnormal eye physiology	157922	CAMSAP1	OMIM:620316
HP:0012373	Abnormal eye physiology	5010	CLDN11	OMIM:619328
HP:0012373	Abnormal eye physiology	56915	EXOSC5	OMIM:619576
HP:0012373	Abnormal eye physiology	2590	GALNT2	OMIM:618885
HP:0012373	Abnormal eye physiology	55870	ASH1L	OMIM:617796
HP:0012373	Abnormal eye physiology	5119	CHMP1A	OMIM:614961
HP:0012373	Abnormal eye physiology	222663	SCUBE3	OMIM:619184
HP:0012373	Abnormal eye physiology	6045	RNF2	OMIM:619460
HP:0012373	Abnormal eye physiology	372	ARCN1	OMIM:617164
HP:0012373	Abnormal eye physiology	4761	NEUROD2	OMIM:618374
HP:0012373	Abnormal eye physiology	23065	EMC1	OMIM:616875
HP:0012373	Abnormal eye physiology	23065	EMC1	ORPHA:480898
HP:0012373	Abnormal eye physiology	4591	TRIM37	OMIM:253250
HP:0012373	Abnormal eye physiology	149461	CLDN19	OMIM:248190
HP:0012373	Abnormal eye physiology	26834	RNU4-2	OMIM:620851
HP:0012373	Abnormal eye physiology	2743	GLRB	OMIM:614619
HP:0012373	Abnormal eye physiology	84265	POLR3GL	OMIM:619234
HP:0012373	Abnormal eye physiology	57498	KIDINS220	OMIM:617296
HP:0012373	Abnormal eye physiology	134218	DNAJC21	OMIM:617052
HP:0012373	Abnormal eye physiology	8239	USP9X	ORPHA:480880
HP:0012373	Abnormal eye physiology	8239	USP9X	OMIM:300968
HP:0012373	Abnormal eye physiology	283446	MYO1H	OMIM:619482
HP:0012373	Abnormal eye physiology	57459	GATAD2B	ORPHA:363686
HP:0012373	Abnormal eye physiology	388552	BLOC1S3	OMIM:614077
HP:0012373	Abnormal eye physiology	2890	GRIA1	OMIM:619927
HP:0012373	Abnormal eye physiology	23261	CAMTA1	OMIM:614756
HP:0012373	Abnormal eye physiology	51341	ZBTB7A	OMIM:619769
HP:0012373	Abnormal eye physiology	50485	SMARCAL1	OMIM:242900
HP:0012373	Abnormal eye physiology	9338	TCEAL1	OMIM:301094
HP:0012373	Abnormal eye physiology	81031	SLC2A10	OMIM:208050
HP:0012373	Abnormal eye physiology	1107	CHD3	OMIM:618205
HP:0012373	Abnormal eye physiology	55181	SMG8	OMIM:619268
HP:0012373	Abnormal eye physiology	26173	INTS1	OMIM:618571
HP:0012373	Abnormal eye physiology	1297	COL9A1	OMIM:614134
HP:0012373	Abnormal eye physiology	1297	COL9A1	ORPHA:250984
HP:0012373	Abnormal eye physiology	1298	COL9A2	ORPHA:250984
HP:0012373	Abnormal eye physiology	5908	RAP1B	OMIM:620654
HP:0012373	Abnormal eye physiology	55294	FBXW7	OMIM:620012
HP:0012373	Abnormal eye physiology	79158	GNPTAB	OMIM:252600
HP:0012373	Abnormal eye physiology	1718	DHCR24	OMIM:602398
HP:0012373	Abnormal eye physiology	1718	DHCR24	ORPHA:35107
HP:0012373	Abnormal eye physiology	1139	CHRNA7	ORPHA:199318
HP:0012373	Abnormal eye physiology	1139	CHRNA7	OMIM:612001
HP:0012373	Abnormal eye physiology	23135	KDM6B	OMIM:618505
HP:0012373	Abnormal eye physiology	4897	NRCAM	OMIM:619833
HP:0012373	Abnormal eye physiology	5927	KDM5A	OMIM:620820
HP:0012373	Abnormal eye physiology	5457	POU4F1	ORPHA:314647
HP:0012373	Abnormal eye physiology	112802	KRT71	ORPHA:170
HP:0012373	Abnormal eye physiology	121391	KRT74	ORPHA:170
HP:0012373	Abnormal eye physiology	200879	LIPH	ORPHA:170
HP:0012373	Abnormal eye physiology	10161	LPAR6	ORPHA:170
HP:0012373	Abnormal eye physiology	147183	KRT25	ORPHA:170
HP:0012373	Abnormal eye physiology	57589	RIC1	OMIM:618761
HP:0012373	Abnormal eye physiology	4330	MN1	OMIM:618774
HP:0012373	Abnormal eye physiology	3340	NDST1	OMIM:616116
HP:0012373	Abnormal eye physiology	11193	WBP4	OMIM:620852
HP:0012373	Abnormal eye physiology	8558	CDK10	OMIM:617694
HP:0012373	Abnormal eye physiology	23259	DDHD2	OMIM:615033
HP:0012373	Abnormal eye physiology	23259	DDHD2	ORPHA:320380
HP:0012373	Abnormal eye physiology	92609	TIMM50	OMIM:617698
HP:0012373	Abnormal eye physiology	51692	CPSF3	OMIM:619876
HP:0012373	Abnormal eye physiology	9289	ADGRG1	ORPHA:101070
HP:0012373	Abnormal eye physiology	79718	TBL1XR1	OMIM:602342
HP:0012373	Abnormal eye physiology	79718	TBL1XR1	ORPHA:487825
HP:0012373	Abnormal eye physiology	6305	SBF1	OMIM:615284
HP:0012373	Abnormal eye physiology	8818	DPM2	OMIM:615042
HP:0012373	Abnormal eye physiology	8818	DPM2	ORPHA:329178
HP:0012373	Abnormal eye physiology	56098	PCDHGC4	OMIM:619880
HP:0012373	Abnormal eye physiology	113179	ADAT3	OMIM:615286
HP:0012373	Abnormal eye physiology	113179	ADAT3	ORPHA:363528
HP:0012373	Abnormal eye physiology	1742	DLG4	OMIM:618793
HP:0012373	Abnormal eye physiology	4208	MEF2C	ORPHA:228384
HP:0012373	Abnormal eye physiology	23499	MACF1	OMIM:618325
HP:0012373	Abnormal eye physiology	23499	MACF1	ORPHA:572013
HP:0012373	Abnormal eye physiology	54148	MRPL39	OMIM:620646
HP:0012373	Abnormal eye physiology	85300	ATCAY	OMIM:601238
HP:0012373	Abnormal eye physiology	120	ADD3	OMIM:617008
HP:0012373	Abnormal eye physiology	7306	TYRP1	ORPHA:79433
HP:0012373	Abnormal eye physiology	7306	TYRP1	OMIM:203290
HP:0012373	Abnormal eye physiology	51574	LARP7	OMIM:615071
HP:0012373	Abnormal eye physiology	51574	LARP7	ORPHA:319671
HP:0012373	Abnormal eye physiology	6418	SET	OMIM:618106
HP:0012373	Abnormal eye physiology	55746	NUP133	OMIM:618349
HP:0012373	Abnormal eye physiology	9526	MPDU1	OMIM:609180
HP:0012373	Abnormal eye physiology	50814	NSDHL	ORPHA:251383
HP:0012373	Abnormal eye physiology	50814	NSDHL	OMIM:300831
HP:0012373	Abnormal eye physiology	2972	BRF1	ORPHA:444072
HP:0012373	Abnormal eye physiology	2972	BRF1	OMIM:616202
HP:0012373	Abnormal eye physiology	116461	TSEN15	OMIM:617026
HP:0012373	Abnormal eye physiology	8492	PRSS12	OMIM:249500
HP:0012373	Abnormal eye physiology	6492	SIM1	ORPHA:171829
HP:0012373	Abnormal eye physiology	6492	SIM1	ORPHA:398079
HP:0012373	Abnormal eye physiology	5934	RBL2	OMIM:619690
HP:0012373	Abnormal eye physiology	4998	ORC1	OMIM:224690
HP:0012373	Abnormal eye physiology	9675	TTI1	OMIM:620445
HP:0012373	Abnormal eye physiology	3858	KRT10	OMIM:609165
HP:0012373	Abnormal eye physiology	9758	FRMPD4	OMIM:300983
HP:0012373	Abnormal eye physiology	64374	SIL1	ORPHA:559
HP:0012373	Abnormal eye physiology	64374	SIL1	OMIM:248800
HP:0012373	Abnormal eye physiology	84065	TMEM222	OMIM:619470
HP:0012373	Abnormal eye physiology	9321	TRIP11	ORPHA:166272
HP:0012373	Abnormal eye physiology	6711	SPTBN1	OMIM:619475
HP:0012373	Abnormal eye physiology	11198	SUPT16H	OMIM:619480
HP:0012373	Abnormal eye physiology	57477	SHROOM4	ORPHA:85288
HP:0012373	Abnormal eye physiology	3516	RBPJ	ORPHA:974
HP:0012373	Abnormal eye physiology	4851	NOTCH1	ORPHA:974
HP:0012373	Abnormal eye physiology	57514	ARHGAP31	ORPHA:974
HP:0012373	Abnormal eye physiology	285203	EOGT	ORPHA:974
HP:0012373	Abnormal eye physiology	54567	DLL4	ORPHA:974
HP:0012373	Abnormal eye physiology	6748	SSR4	ORPHA:370927
HP:0012373	Abnormal eye physiology	6748	SSR4	OMIM:300934
HP:0012373	Abnormal eye physiology	10479	SLC9A6	ORPHA:85278
HP:0012373	Abnormal eye physiology	10479	SLC9A6	OMIM:300243
HP:0012373	Abnormal eye physiology	54187	NANS	OMIM:610442
HP:0012373	Abnormal eye physiology	10079	ATP9A	OMIM:620242
HP:0012373	Abnormal eye physiology	2801	GOLGA2	OMIM:620240
HP:0012373	Abnormal eye physiology	1183	CLCN4	OMIM:300114
HP:0012373	Abnormal eye physiology	1183	CLCN4	ORPHA:485350
HP:0012373	Abnormal eye physiology	84282	RNF135	ORPHA:137634
HP:0012373	Abnormal eye physiology	123263	MTFMT	OMIM:614947
HP:0012373	Abnormal eye physiology	10093	ARPC4	OMIM:620141
HP:0012373	Abnormal eye physiology	8200	GDF5	ORPHA:3250
HP:0012373	Abnormal eye physiology	5979	RET	ORPHA:99803
HP:0012373	Abnormal eye physiology	429	ASCL1	ORPHA:99803
HP:0012373	Abnormal eye physiology	10225	CD96	OMIM:211750
HP:0012373	Abnormal eye physiology	10225	CD96	ORPHA:1308
HP:0012373	Abnormal eye physiology	271	AMPD2	OMIM:615809
HP:0012373	Abnormal eye physiology	56992	KIF15	ORPHA:261323
HP:0012373	Abnormal eye physiology	23325	WASHC4	OMIM:615817
HP:0012373	Abnormal eye physiology	23400	ATP13A2	ORPHA:513436
HP:0012373	Abnormal eye physiology	23036	ZNF292	OMIM:619188
HP:0012373	Abnormal eye physiology	11160	ERLIN2	OMIM:611225
HP:0012373	Abnormal eye physiology	83879	CDCA7	OMIM:616910
HP:0012373	Abnormal eye physiology	3192	HNRNPU	ORPHA:238769
HP:0012373	Abnormal eye physiology	51114	ZDHHC9	OMIM:300799
HP:0012373	Abnormal eye physiology	116442	RAB39B	ORPHA:2379
HP:0012373	Abnormal eye physiology	79753	SNIP1	OMIM:614501
HP:0012373	Abnormal eye physiology	1650	DDOST	OMIM:614507
HP:0012373	Abnormal eye physiology	2259	FGF14	ORPHA:98764
HP:0012373	Abnormal eye physiology	2259	FGF14	OMIM:193003
HP:0012373	Abnormal eye physiology	492	ATP2B3	OMIM:302500
HP:0012373	Abnormal eye physiology	492	ATP2B3	ORPHA:314978
HP:0012373	Abnormal eye physiology	55275	VPS53	OMIM:615851
HP:0012373	Abnormal eye physiology	2146	EZH2	OMIM:277590
HP:0012373	Abnormal eye physiology	51134	CEP83	OMIM:615862
HP:0012373	Abnormal eye physiology	22907	DHX30	OMIM:617804
HP:0012373	Abnormal eye physiology	7319	UBE2A	ORPHA:163956
HP:0012373	Abnormal eye physiology	339453	TMEM240	OMIM:607454
HP:0012373	Abnormal eye physiology	6513	SLC2A1	ORPHA:71277
HP:0012373	Abnormal eye physiology	10586	MAB21L2	OMIM:615877
HP:0012373	Abnormal eye physiology	2902	GRIN1	OMIM:617820
HP:0012373	Abnormal eye physiology	2902	GRIN1	ORPHA:1934
HP:0012373	Abnormal eye physiology	84679	SLC9A7	OMIM:301024
HP:0012373	Abnormal eye physiology	2332	FMR1	ORPHA:449291
HP:0012373	Abnormal eye physiology	2332	FMR1	ORPHA:908
HP:0012373	Abnormal eye physiology	63035	BCORL1	OMIM:301029
HP:0012373	Abnormal eye physiology	9378	NRXN1	OMIM:614325
HP:0012373	Abnormal eye physiology	1000	CDH2	OMIM:618929
HP:0012373	Abnormal eye physiology	6197	RPS6KA3	ORPHA:192
HP:0012373	Abnormal eye physiology	9150	CTDP1	ORPHA:48431
HP:0012373	Abnormal eye physiology	81689	ISCA1	OMIM:617613
HP:0012373	Abnormal eye physiology	8936	WASF1	OMIM:618707
HP:0012373	Abnormal eye physiology	122553	TRAPPC6B	OMIM:617862
HP:0012373	Abnormal eye physiology	92335	STRADA	OMIM:611087
HP:0012373	Abnormal eye physiology	2893	GRIA4	OMIM:617864
HP:0012373	Abnormal eye physiology	219285	SAMD9L	OMIM:619806
HP:0012373	Abnormal eye physiology	5456	POU3F4	ORPHA:1435
HP:0012373	Abnormal eye physiology	55691	FRMD4A	ORPHA:466688
HP:0012373	Abnormal eye physiology	55691	FRMD4A	OMIM:616819
HP:0012373	Abnormal eye physiology	1788	DNMT3A	OMIM:618724
HP:0012373	Abnormal eye physiology	3778	KCNMA1	OMIM:618729
HP:0012373	Abnormal eye physiology	9451	EIF2AK3	ORPHA:1667
HP:0012373	Abnormal eye physiology	11141	IL1RAPL1	OMIM:300143
HP:0012373	Abnormal eye physiology	51763	INPP5K	OMIM:617404
HP:0012373	Abnormal eye physiology	529	ATP6V1E1	OMIM:617402
HP:0012373	Abnormal eye physiology	529	ATP6V1E1	ORPHA:357074
HP:0012373	Abnormal eye physiology	8294	H4C9	OMIM:619951
HP:0012373	Abnormal eye physiology	2132	EXT2	OMIM:616682
HP:0012373	Abnormal eye physiology	2132	EXT2	ORPHA:52022
HP:0012373	Abnormal eye physiology	23446	SLC44A1	OMIM:618868
HP:0012373	Abnormal eye physiology	10054	UBA2	OMIM:619959
HP:0012373	Abnormal eye physiology	3703	STT3A	OMIM:619714
HP:0012373	Abnormal eye physiology	3020	H3-3A	OMIM:619720
HP:0012373	Abnormal eye physiology	57156	TMEM63C	OMIM:619966
HP:0012373	Abnormal eye physiology	28514	DLL1	ORPHA:280200
HP:0012373	Abnormal eye physiology	6496	SIX3	ORPHA:280200
HP:0012373	Abnormal eye physiology	4838	NODAL	ORPHA:280200
HP:0012373	Abnormal eye physiology	7546	ZIC2	ORPHA:280200
HP:0012373	Abnormal eye physiology	2619	GAS1	ORPHA:280200
HP:0012373	Abnormal eye physiology	84976	DISP1	ORPHA:280200
HP:0012373	Abnormal eye physiology	8928	FOXH1	ORPHA:280200
HP:0012373	Abnormal eye physiology	6997	CRIPTO	ORPHA:280200
HP:0012373	Abnormal eye physiology	50937	CDON	ORPHA:280200
HP:0012373	Abnormal eye physiology	2626	GATA4	ORPHA:251071
HP:0012373	Abnormal eye physiology	5566	PRKACA	ORPHA:289
HP:0012373	Abnormal eye physiology	5567	PRKACB	ORPHA:289
HP:0012373	Abnormal eye physiology	2735	GLI1	ORPHA:289
HP:0012373	Abnormal eye physiology	2121	EVC	ORPHA:289
HP:0012373	Abnormal eye physiology	51626	DYNC2LI1	ORPHA:289
HP:0012373	Abnormal eye physiology	132884	EVC2	ORPHA:289
HP:0012373	Abnormal eye physiology	283987	HID1	OMIM:619983
HP:0012373	Abnormal eye physiology	26057	ANKRD17	OMIM:619504
HP:0012373	Abnormal eye physiology	29081	METTL5	OMIM:618665
HP:0012373	Abnormal eye physiology	4191	MDH2	OMIM:617339
HP:0012373	Abnormal eye physiology	56052	ALG1	ORPHA:79327
HP:0012373	Abnormal eye physiology	11234	HPS5	OMIM:614074
HP:0012373	Abnormal eye physiology	53335	BCL11A	OMIM:617101
HP:0012373	Abnormal eye physiology	59336	PRDM13	OMIM:619761
HP:0012373	Abnormal eye physiology	22	ABCB7	ORPHA:2802
HP:0012373	Abnormal eye physiology	22	ABCB7	OMIM:301310
HP:0012373	Abnormal eye physiology	2542	SLC37A4	OMIM:619525
HP:0012373	Abnormal eye physiology	23162	MAPK8IP3	OMIM:618443
HP:0012373	Abnormal eye physiology	2678	GGT1	OMIM:231950
HP:0012373	Abnormal eye physiology	3930	LBR	OMIM:169400
HP:0012373	Abnormal eye physiology	29929	ALG6	ORPHA:79320
HP:0012373	Abnormal eye physiology	29929	ALG6	OMIM:603147
HP:0012373	Abnormal eye physiology	79087	ALG12	ORPHA:79324
HP:0012373	Abnormal eye physiology	1723	DHODH	ORPHA:246
HP:0012373	Abnormal eye physiology	10195	ALG3	OMIM:601110
HP:0012373	Abnormal eye physiology	3897	L1CAM	OMIM:304100
HP:0012373	Abnormal eye physiology	3897	L1CAM	ORPHA:2182
HP:0012373	Abnormal eye physiology	3897	L1CAM	OMIM:303350
HP:0012373	Abnormal eye physiology	51013	EXOSC1	OMIM:619304
HP:0012373	Abnormal eye physiology	6792	CDKL5	ORPHA:1934
HP:0012373	Abnormal eye physiology	140679	SLC32A1	ORPHA:1934
HP:0012373	Abnormal eye physiology	2775	GNAO1	ORPHA:1934
HP:0012373	Abnormal eye physiology	81603	TRIM8	ORPHA:1934
HP:0012373	Abnormal eye physiology	150094	SIK1	ORPHA:1934
HP:0012373	Abnormal eye physiology	23312	DMXL2	ORPHA:1934
HP:0012373	Abnormal eye physiology	2917	GRM7	ORPHA:1934
HP:0012373	Abnormal eye physiology	51227	PIGP	ORPHA:1934
HP:0012373	Abnormal eye physiology	6324	SCN1B	ORPHA:1934
HP:0012373	Abnormal eye physiology	10466	COG5	ORPHA:263487
HP:0012373	Abnormal eye physiology	79903	NAA60	OMIM:620786
HP:0012373	Abnormal eye physiology	6709	SPTAN1	OMIM:620540
HP:0012373	Abnormal eye physiology	26275	HIBCH	ORPHA:88639
HP:0012373	Abnormal eye physiology	26275	HIBCH	OMIM:250620
HP:0012373	Abnormal eye physiology	2710	GK	OMIM:307030
HP:0012373	Abnormal eye physiology	9179	AP4M1	OMIM:612936
HP:0012373	Abnormal eye physiology	9179	AP4M1	ORPHA:280763
HP:0012373	Abnormal eye physiology	387119	CEP85L	ORPHA:572013
HP:0012373	Abnormal eye physiology	79944	L2HGDH	OMIM:236792
HP:0012373	Abnormal eye physiology	1741	DLG3	OMIM:300850
HP:0012373	Abnormal eye physiology	400569	MED11	OMIM:620327
HP:0012373	Abnormal eye physiology	2898	GRIK2	OMIM:619580
HP:0012373	Abnormal eye physiology	191	AHCY	ORPHA:88618
HP:0012373	Abnormal eye physiology	6712	SPTBN2	OMIM:600224
HP:0012373	Abnormal eye physiology	6712	SPTBN2	ORPHA:352403
HP:0012373	Abnormal eye physiology	2475	MTOR	ORPHA:457485
HP:0012373	Abnormal eye physiology	2475	MTOR	OMIM:616638
HP:0012373	Abnormal eye physiology	5573	PRKAR1A	OMIM:101800
HP:0012373	Abnormal eye physiology	51715	RAB23	ORPHA:65759
HP:0012373	Abnormal eye physiology	1954	MEGF8	ORPHA:65759
HP:0012373	Abnormal eye physiology	80185	TTI2	ORPHA:391307
HP:0012373	Abnormal eye physiology	80185	TTI2	OMIM:615541
HP:0012373	Abnormal eye physiology	5702	PSMC3	OMIM:619354
HP:0012373	Abnormal eye physiology	79005	SCNM1	OMIM:620107
HP:0012373	Abnormal eye physiology	4983	OPHN1	ORPHA:137831
HP:0012373	Abnormal eye physiology	4983	OPHN1	OMIM:300486
HP:0012373	Abnormal eye physiology	51317	PHF21A	ORPHA:52022
HP:0012373	Abnormal eye physiology	128240	NAXE	OMIM:617186
HP:0012373	Abnormal eye physiology	6472	SHMT2	OMIM:619121
HP:0012373	Abnormal eye physiology	23287	AGTPBP1	OMIM:618276
HP:0012373	Abnormal eye physiology	23287	AGTPBP1	ORPHA:2254
HP:0012373	Abnormal eye physiology	6904	TBCD	OMIM:617193
HP:0012373	Abnormal eye physiology	55835	CPAP	OMIM:608393
HP:0012373	Abnormal eye physiology	4668	NAGA	OMIM:609241
HP:0012373	Abnormal eye physiology	4668	NAGA	ORPHA:79281
HP:0012373	Abnormal eye physiology	4668	NAGA	ORPHA:79279
HP:0012373	Abnormal eye physiology	8665	EIF3F	OMIM:618295
HP:0012373	Abnormal eye physiology	3480	IGF1R	OMIM:270450
HP:0012373	Abnormal eye physiology	10128	LRPPRC	OMIM:220111
HP:0012373	Abnormal eye physiology	158	ADSL	OMIM:103050
HP:0012373	Abnormal eye physiology	10274	STAG1	ORPHA:502434
HP:0012373	Abnormal eye physiology	374654	KIF7	OMIM:200990
HP:0012373	Abnormal eye physiology	3899	AFF3	OMIM:619297
HP:0012373	Abnormal eye physiology	1757	SARDH	ORPHA:3129
HP:0012373	Abnormal eye physiology	10015	PDCD6IP	OMIM:620047
HP:0012373	Abnormal eye physiology	26523	AGO1	OMIM:620292
HP:0012373	Abnormal eye physiology	1727	CYB5R3	OMIM:250800
HP:0012373	Abnormal eye physiology	5393	EXOSC9	ORPHA:2254
HP:0012373	Abnormal eye physiology	7443	VRK1	ORPHA:2254
HP:0012373	Abnormal eye physiology	83475	DOHH	OMIM:620066
HP:0012373	Abnormal eye physiology	51244	CCDC174	OMIM:616816
HP:0012373	Abnormal eye physiology	3187	HNRNPH1	OMIM:620083
HP:0012373	Abnormal eye physiology	26047	CNTNAP2	OMIM:610042
HP:0012373	Abnormal eye physiology	9928	KIF14	OMIM:617914
HP:0012373	Abnormal eye physiology	84978	FRMD5	OMIM:620094
HP:0012373	Abnormal eye physiology	3329	HSPD1	OMIM:612233
HP:0012373	Abnormal eye physiology	51053	GMNN	OMIM:616835
HP:0012373	Abnormal eye physiology	51621	KLF13	OMIM:612001
HP:0012373	Abnormal eye physiology	10157	AASS	ORPHA:2203
HP:0012373	Abnormal eye physiology	55784	MCTP2	ORPHA:1596
HP:0012373	Abnormal eye physiology	10352	WARS2	OMIM:617710
HP:0012373	Abnormal eye physiology	3209	HOXA13	ORPHA:2438
HP:0012373	Abnormal eye physiology	2248	FGF3	ORPHA:90024
HP:0012373	Abnormal eye physiology	23395	LARS2	OMIM:615300
HP:0012373	Abnormal eye physiology	3835	KIF22	ORPHA:93360
HP:0012373	Abnormal eye physiology	8405	SPOP	OMIM:618829
HP:0012373	Abnormal eye physiology	8905	AP1S2	ORPHA:1568
HP:0012373	Abnormal eye physiology	26576	SRPK3	OMIM:301134
HP:0012373	Abnormal eye physiology	10717	AP4B1	ORPHA:280763
HP:0012373	Abnormal eye physiology	11154	AP4S1	ORPHA:280763
HP:0012373	Abnormal eye physiology	23431	AP4E1	ORPHA:280763
HP:0012373	Abnormal eye physiology	9320	TRIP12	OMIM:617752
HP:0012373	Abnormal eye physiology	738	VPS51	OMIM:618606
HP:0012373	Abnormal eye physiology	6913	TBX15	ORPHA:93333
HP:0012373	Abnormal eye physiology	7454	WAS	ORPHA:906
HP:0012373	Abnormal eye physiology	7456	WIPF1	ORPHA:906
HP:0012373	Abnormal eye physiology	22947	DUX4L1	ORPHA:269
HP:0012373	Abnormal eye physiology	1789	DNMT3B	ORPHA:269
HP:0012373	Abnormal eye physiology	2483	FRG1	ORPHA:269
HP:0012373	Abnormal eye physiology	23347	SMCHD1	ORPHA:269
HP:0012373	Abnormal eye physiology	100288687	DUX4	ORPHA:269
HP:0012373	Abnormal eye physiology	55343	SLC35C1	ORPHA:99843
HP:0012373	Abnormal eye physiology	3572	IL6ST	OMIM:618523
HP:0012373	Abnormal eye physiology	242	ALOX12B	ORPHA:79394
HP:0012373	Abnormal eye physiology	204219	CERS3	ORPHA:79394
HP:0012373	Abnormal eye physiology	6820	SULT2B1	ORPHA:79394
HP:0012373	Abnormal eye physiology	26154	ABCA12	ORPHA:79394
HP:0012373	Abnormal eye physiology	285848	PNPLA1	ORPHA:79394
HP:0012373	Abnormal eye physiology	59344	ALOXE3	ORPHA:79394
HP:0012373	Abnormal eye physiology	348938	NIPAL4	ORPHA:79394
HP:0012373	Abnormal eye physiology	7051	TGM1	ORPHA:79394
HP:0012373	Abnormal eye physiology	121214	SDR9C7	ORPHA:79394
HP:0012373	Abnormal eye physiology	9244	CRLF1	OMIM:272430
HP:0012373	Abnormal eye physiology	57167	SALL4	ORPHA:233
HP:0012373	Abnormal eye physiology	9935	MAFB	ORPHA:233
HP:0012373	Abnormal eye physiology	1123	CHN1	ORPHA:233
HP:0012373	Abnormal eye physiology	291	SLC25A4	ORPHA:254892
HP:0012373	Abnormal eye physiology	5428	POLG	ORPHA:254892
HP:0012373	Abnormal eye physiology	56652	TWNK	ORPHA:254892
HP:0012373	Abnormal eye physiology	11232	POLG2	ORPHA:254892
HP:0012373	Abnormal eye physiology	50484	RRM2B	ORPHA:254892
HP:0012373	Abnormal eye physiology	3064	HTT	ORPHA:399
HP:0012373	Abnormal eye physiology	3064	HTT	OMIM:143100
HP:0012373	Abnormal eye physiology	6515	SLC2A3	ORPHA:399
HP:0012373	Abnormal eye physiology	3763	KCNJ6	ORPHA:435628
HP:0012373	Abnormal eye physiology	6247	RS1	ORPHA:792
HP:0012373	Abnormal eye physiology	1281	COL3A1	OMIM:618343
HP:0012373	Abnormal eye physiology	5648	MASP1	OMIM:257920
HP:0012373	Abnormal eye physiology	9254	CACNA2D2	OMIM:618501
HP:0012373	Abnormal eye physiology	478	ATP1A3	OMIM:614820
HP:0012373	Abnormal eye physiology	478	ATP1A3	ORPHA:1171
HP:0012373	Abnormal eye physiology	2643	GCH1	OMIM:233910
HP:0012373	Abnormal eye physiology	114327	EFHC1	ORPHA:307
HP:0012373	Abnormal eye physiology	114327	EFHC1	ORPHA:1941
HP:0012373	Abnormal eye physiology	2563	GABRD	ORPHA:307
HP:0012373	Abnormal eye physiology	1181	CLCN2	ORPHA:307
HP:0012373	Abnormal eye physiology	2554	GABRA1	ORPHA:307
HP:0012373	Abnormal eye physiology	3786	KCNQ3	ORPHA:307
HP:0012373	Abnormal eye physiology	22858	CILK1	ORPHA:307
HP:0012373	Abnormal eye physiology	8629	JRK	ORPHA:307
HP:0012373	Abnormal eye physiology	785	CACNB4	ORPHA:307
HP:0012373	Abnormal eye physiology	2218	FKTN	OMIM:253800
HP:0012373	Abnormal eye physiology	8659	ALDH4A1	ORPHA:79101
HP:0012373	Abnormal eye physiology	6571	SLC18A2	ORPHA:352649
HP:0012373	Abnormal eye physiology	5521	PPP2R2B	OMIM:604326
HP:0012373	Abnormal eye physiology	472	ATM	ORPHA:100
HP:0012373	Abnormal eye physiology	9786	KIAA0586	OMIM:616490
HP:0012373	Abnormal eye physiology	8050	PDHX	OMIM:245349
HP:0012373	Abnormal eye physiology	6872	TAF1	OMIM:300966
HP:0012373	Abnormal eye physiology	5621	PRNP	ORPHA:157941
HP:0012373	Abnormal eye physiology	51506	UFC1	OMIM:618076
HP:0012373	Abnormal eye physiology	9342	SNAP29	ORPHA:66631
HP:0012373	Abnormal eye physiology	5160	PDHA1	OMIM:312170
HP:0012373	Abnormal eye physiology	84162	BLTP1	OMIM:617822
HP:0012373	Abnormal eye physiology	80210	ARMC9	OMIM:617622
HP:0012373	Abnormal eye physiology	4137	MAPT	ORPHA:240085
HP:0012373	Abnormal eye physiology	5660	PSAP	ORPHA:139406
HP:0012373	Abnormal eye physiology	64135	IFIH1	OMIM:615846
HP:0012373	Abnormal eye physiology	64135	IFIH1	ORPHA:51
HP:0012373	Abnormal eye physiology	55163	PNPO	ORPHA:79096
HP:0012373	Abnormal eye physiology	11152	WDR45	ORPHA:329284
HP:0012373	Abnormal eye physiology	11152	WDR45	OMIM:300894
HP:0012373	Abnormal eye physiology	55906	ZC4H2	ORPHA:3454
HP:0012373	Abnormal eye physiology	6329	SCN4A	ORPHA:98913
HP:0012373	Abnormal eye physiology	1134	CHRNA1	ORPHA:98913
HP:0012373	Abnormal eye physiology	4038	LRP4	ORPHA:98913
HP:0012373	Abnormal eye physiology	1305	COL13A1	ORPHA:98913
HP:0012373	Abnormal eye physiology	1140	CHRNB1	ORPHA:98913
HP:0012373	Abnormal eye physiology	1144	CHRND	ORPHA:98913
HP:0012373	Abnormal eye physiology	1145	CHRNE	ORPHA:98913
HP:0012373	Abnormal eye physiology	4593	MUSK	ORPHA:98913
HP:0012373	Abnormal eye physiology	5913	RAPSN	ORPHA:98913
HP:0012373	Abnormal eye physiology	375790	AGRN	ORPHA:98913
HP:0012373	Abnormal eye physiology	221264	AK9	ORPHA:98913
HP:0012373	Abnormal eye physiology	285489	DOK7	ORPHA:98913
HP:0012373	Abnormal eye physiology	6310	ATXN1	ORPHA:98755
HP:0012373	Abnormal eye physiology	87178	PNPT1	ORPHA:319514
HP:0012373	Abnormal eye physiology	87178	PNPT1	OMIM:614932
HP:0012373	Abnormal eye physiology	5264	PHYH	ORPHA:773
HP:0012373	Abnormal eye physiology	5191	PEX7	ORPHA:773
HP:0012373	Abnormal eye physiology	8888	MCM3AP	OMIM:618124
HP:0012373	Abnormal eye physiology	10134	BCAP31	ORPHA:369939
HP:0012373	Abnormal eye physiology	2629	GBA1	ORPHA:2072
HP:0012373	Abnormal eye physiology	10381	TUBB3	ORPHA:300570
HP:0012373	Abnormal eye physiology	57679	ALS2	ORPHA:293168
HP:0012373	Abnormal eye physiology	9326	ZNHIT3	ORPHA:2836
HP:0012373	Abnormal eye physiology	6843	VAMP1	OMIM:108600
HP:0012373	Abnormal eye physiology	1737	DLAT	ORPHA:79244
HP:0012373	Abnormal eye physiology	26123	TCTN3	ORPHA:2753
HP:0012373	Abnormal eye physiology	26123	TCTN3	OMIM:614815
HP:0012373	Abnormal eye physiology	501	ALDH7A1	ORPHA:3006
HP:0012373	Abnormal eye physiology	11212	PLPBP	ORPHA:3006
HP:0012373	Abnormal eye physiology	55187	VPS13D	ORPHA:95434
HP:0012373	Abnormal eye physiology	27072	VPS41	ORPHA:95434
HP:0012373	Abnormal eye physiology	823	CAPN1	ORPHA:488594
HP:0012373	Abnormal eye physiology	9757	KMT2B	OMIM:617284
HP:0012373	Abnormal eye physiology	23503	ZFYVE26	ORPHA:100996
HP:0012373	Abnormal eye physiology	54681	P4HTM	OMIM:618493
HP:0012373	Abnormal eye physiology	5277	PIGA	OMIM:300868
HP:0012373	Abnormal eye physiology	133686	NADK2	OMIM:616034
HP:0012373	Abnormal eye physiology	23230	VPS13A	ORPHA:2388
HP:0012373	Abnormal eye physiology	11342	RNF13	ORPHA:544503
HP:0012373	Abnormal eye physiology	10535	RNASEH2A	ORPHA:51
HP:0012373	Abnormal eye physiology	84153	RNASEH2C	ORPHA:51
HP:0012373	Abnormal eye physiology	25939	SAMHD1	ORPHA:51
HP:0012373	Abnormal eye physiology	79621	RNASEH2B	ORPHA:51
HP:0012373	Abnormal eye physiology	103	ADAR	ORPHA:51
HP:0012373	Abnormal eye physiology	11277	TREX1	ORPHA:51
HP:0012373	Abnormal eye physiology	100147744	RNU7-1	ORPHA:51
HP:0012373	Abnormal eye physiology	134353	LSM11	ORPHA:51
HP:0012373	Abnormal eye physiology	4001	LMNB1	ORPHA:99027
HP:0012373	Abnormal eye physiology	7915	ALDH5A1	OMIM:271980
HP:0012373	Abnormal eye physiology	348	APOE	ORPHA:158029
HP:0012373	Abnormal eye physiology	6868	ADAM17	OMIM:614328
HP:0012373	Abnormal eye physiology	6868	ADAM17	ORPHA:294023
HP:0012373	Abnormal eye physiology	79650	USB1	OMIM:604173
HP:0012373	Abnormal eye physiology	79650	USB1	ORPHA:1775
HP:0012373	Abnormal eye physiology	23556	PIGN	ORPHA:280633
HP:0012373	Abnormal eye physiology	9496	TBX4	ORPHA:261279
HP:0012373	Abnormal eye physiology	80169	CTC1	ORPHA:1775
HP:0012373	Abnormal eye physiology	55135	WRAP53	ORPHA:1775
HP:0012373	Abnormal eye physiology	51750	RTEL1	ORPHA:1775
HP:0012373	Abnormal eye physiology	4869	NPM1	ORPHA:1775
HP:0012373	Abnormal eye physiology	2137	EXTL3	OMIM:617425
HP:0012373	Abnormal eye physiology	6307	MSMO1	OMIM:616834
HP:0012373	Abnormal eye physiology	488	ATP2A2	ORPHA:218
HP:0012373	Abnormal eye physiology	1956	EGFR	ORPHA:294023
HP:0012373	Abnormal eye physiology	1409	CRYAA	OMIM:604219
HP:0012373	Abnormal eye physiology	875	CBS	ORPHA:394
HP:0012373	Abnormal eye physiology	875	CBS	OMIM:236200
HP:0012373	Abnormal eye physiology	23141	ANKLE2	OMIM:616681
HP:0012373	Abnormal eye physiology	4099	MAG	OMIM:616680
HP:0012373	Abnormal eye physiology	6775	STAT4	ORPHA:85410
HP:0012373	Abnormal eye physiology	3560	IL2RB	ORPHA:85410
HP:0012373	Abnormal eye physiology	79722	ANKRD55	ORPHA:85410
HP:0012373	Abnormal eye physiology	26191	PTPN22	ORPHA:85410
HP:0012373	Abnormal eye physiology	26191	PTPN22	ORPHA:3437
HP:0012373	Abnormal eye physiology	919	CD247	ORPHA:85410
HP:0012373	Abnormal eye physiology	3559	IL2RA	ORPHA:85410
HP:0012373	Abnormal eye physiology	5771	PTPN2	ORPHA:85410
HP:0012373	Abnormal eye physiology	1763	DNA2	OMIM:620819
HP:0012373	Abnormal eye physiology	1763	DNA2	ORPHA:808
HP:0012373	Abnormal eye physiology	5631	PRPS1	ORPHA:411543
HP:0012373	Abnormal eye physiology	5631	PRPS1	OMIM:300661
HP:0012373	Abnormal eye physiology	652	BMP4	ORPHA:828
HP:0012373	Abnormal eye physiology	145173	B3GLCT	ORPHA:709
HP:0012373	Abnormal eye physiology	145173	B3GLCT	OMIM:261540
HP:0012373	Abnormal eye physiology	55624	POMGNT1	OMIM:253280
HP:0012373	Abnormal eye physiology	55624	POMGNT1	ORPHA:588
HP:0012373	Abnormal eye physiology	55624	POMGNT1	ORPHA:791
HP:0012373	Abnormal eye physiology	55624	POMGNT1	ORPHA:899
HP:0012373	Abnormal eye physiology	9401	RECQL4	OMIM:268400
HP:0012373	Abnormal eye physiology	4653	MYOC	OMIM:137750
HP:0012373	Abnormal eye physiology	4653	MYOC	ORPHA:98976
HP:0012373	Abnormal eye physiology	4016	LOXL1	OMIM:177650
HP:0012373	Abnormal eye physiology	64412	GZF1	OMIM:617662
HP:0012373	Abnormal eye physiology	84892	POMGNT2	OMIM:614830
HP:0012373	Abnormal eye physiology	84892	POMGNT2	ORPHA:899
HP:0012373	Abnormal eye physiology	1717	DHCR7	ORPHA:818
HP:0012373	Abnormal eye physiology	81846	SBF2	OMIM:604563
HP:0012373	Abnormal eye physiology	81846	SBF2	ORPHA:99956
HP:0012373	Abnormal eye physiology	5189	PEX1	OMIM:214100
HP:0012373	Abnormal eye physiology	5189	PEX1	ORPHA:912
HP:0012373	Abnormal eye physiology	220202	ATOH7	OMIM:221900
HP:0012373	Abnormal eye physiology	1301	COL11A1	OMIM:154780
HP:0012373	Abnormal eye physiology	1301	COL11A1	OMIM:604841
HP:0012373	Abnormal eye physiology	1301	COL11A1	ORPHA:560
HP:0012373	Abnormal eye physiology	23418	CRB1	ORPHA:35612
HP:0012373	Abnormal eye physiology	23418	CRB1	ORPHA:791
HP:0012373	Abnormal eye physiology	7439	BEST1	ORPHA:35612
HP:0012373	Abnormal eye physiology	7439	BEST1	ORPHA:791
HP:0012373	Abnormal eye physiology	7439	BEST1	OMIM:193220
HP:0012373	Abnormal eye physiology	26022	TMEM98	ORPHA:35612
HP:0012373	Abnormal eye physiology	6657	SOX2	ORPHA:35612
HP:0012373	Abnormal eye physiology	220	ALDH1A3	ORPHA:35612
HP:0012373	Abnormal eye physiology	646960	PRSS56	ORPHA:35612
HP:0012373	Abnormal eye physiology	83552	MFRP	ORPHA:35612
HP:0012373	Abnormal eye physiology	30062	RAX	ORPHA:35612
HP:0012373	Abnormal eye physiology	5015	OTX2	ORPHA:35612
HP:0012373	Abnormal eye physiology	4990	SIX6	ORPHA:35612
HP:0012373	Abnormal eye physiology	4990	SIX6	OMIM:212550
HP:0012373	Abnormal eye physiology	170691	ADAMTS17	OMIM:613195
HP:0012373	Abnormal eye physiology	170691	ADAMTS17	ORPHA:3449
HP:0012373	Abnormal eye physiology	113189	CHST14	ORPHA:2953
HP:0012373	Abnormal eye physiology	113189	CHST14	OMIM:601776
HP:0012373	Abnormal eye physiology	29940	DSE	ORPHA:2953
HP:0012373	Abnormal eye physiology	54880	BCOR	ORPHA:2712
HP:0012373	Abnormal eye physiology	54880	BCOR	ORPHA:568
HP:0012373	Abnormal eye physiology	54880	BCOR	OMIM:300166
HP:0012373	Abnormal eye physiology	2200	FBN1	ORPHA:2833
HP:0012373	Abnormal eye physiology	2200	FBN1	OMIM:608328
HP:0012373	Abnormal eye physiology	2200	FBN1	ORPHA:3449
HP:0012373	Abnormal eye physiology	2200	FBN1	OMIM:129600
HP:0012373	Abnormal eye physiology	2200	FBN1	OMIM:154700
HP:0012373	Abnormal eye physiology	2200	FBN1	ORPHA:2084
HP:0012373	Abnormal eye physiology	84100	ARL6	OMIM:209900
HP:0012373	Abnormal eye physiology	84100	ARL6	ORPHA:791
HP:0012373	Abnormal eye physiology	79140	CCDC28B	OMIM:209900
HP:0012373	Abnormal eye physiology	582	BBS1	OMIM:209900
HP:0012373	Abnormal eye physiology	582	BBS1	ORPHA:791
HP:0012373	Abnormal eye physiology	2697	GJA1	ORPHA:2710
HP:0012373	Abnormal eye physiology	2697	GJA1	OMIM:164200
HP:0012373	Abnormal eye physiology	2697	GJA1	ORPHA:317
HP:0012373	Abnormal eye physiology	10815	CPLX1	ORPHA:280
HP:0012373	Abnormal eye physiology	54872	PIGG	ORPHA:280
HP:0012373	Abnormal eye physiology	7469	NELFA	ORPHA:280
HP:0012373	Abnormal eye physiology	1487	CTBP1	ORPHA:280
HP:0012373	Abnormal eye physiology	3954	LETM1	ORPHA:280
HP:0012373	Abnormal eye physiology	7468	NSD2	ORPHA:280
HP:0012373	Abnormal eye physiology	9184	BUB3	ORPHA:1052
HP:0012373	Abnormal eye physiology	699	BUB1	ORPHA:1052
HP:0012373	Abnormal eye physiology	9702	CEP57	ORPHA:1052
HP:0012373	Abnormal eye physiology	9319	TRIP13	ORPHA:1052
HP:0012373	Abnormal eye physiology	701	BUB1B	ORPHA:1052
HP:0012373	Abnormal eye physiology	64127	NOD2	OMIM:186580
HP:0012373	Abnormal eye physiology	64127	NOD2	ORPHA:90340
HP:0012373	Abnormal eye physiology	7466	WFS1	OMIM:614296
HP:0012373	Abnormal eye physiology	7466	WFS1	ORPHA:3463
HP:0012373	Abnormal eye physiology	7466	WFS1	ORPHA:411590
HP:0012373	Abnormal eye physiology	57178	ZMIZ1	OMIM:618659
HP:0012373	Abnormal eye physiology	1201	CLN3	OMIM:204200
HP:0012373	Abnormal eye physiology	3425	IDUA	OMIM:607014
HP:0012373	Abnormal eye physiology	3425	IDUA	OMIM:607016
HP:0012373	Abnormal eye physiology	3425	IDUA	ORPHA:93474
HP:0012373	Abnormal eye physiology	3425	IDUA	ORPHA:93473
HP:0012373	Abnormal eye physiology	4053	LTBP2	OMIM:251750
HP:0012373	Abnormal eye physiology	4053	LTBP2	ORPHA:3449
HP:0012373	Abnormal eye physiology	4053	LTBP2	ORPHA:98976
HP:0012373	Abnormal eye physiology	2296	FOXC1	OMIM:602482
HP:0012373	Abnormal eye physiology	2296	FOXC1	ORPHA:782
HP:0012373	Abnormal eye physiology	2296	FOXC1	ORPHA:250923
HP:0012373	Abnormal eye physiology	2296	FOXC1	OMIM:601631
HP:0012373	Abnormal eye physiology	81794	ADAMTS10	OMIM:277600
HP:0012373	Abnormal eye physiology	81794	ADAMTS10	ORPHA:3449
HP:0012373	Abnormal eye physiology	9508	ADAMTS3	ORPHA:2136
HP:0012373	Abnormal eye physiology	147372	CCBE1	ORPHA:2136
HP:0012373	Abnormal eye physiology	147372	CCBE1	OMIM:235510
HP:0012373	Abnormal eye physiology	79633	FAT4	ORPHA:2136
HP:0012373	Abnormal eye physiology	6804	STX1A	ORPHA:904
HP:0012373	Abnormal eye physiology	7461	CLIP2	ORPHA:904
HP:0012373	Abnormal eye physiology	84277	DNAJC30	ORPHA:904
HP:0012373	Abnormal eye physiology	8468	FKBP6	ORPHA:904
HP:0012373	Abnormal eye physiology	5982	RFC2	ORPHA:904
HP:0012373	Abnormal eye physiology	2969	GTF2I	ORPHA:904
HP:0012373	Abnormal eye physiology	3984	LIMK1	ORPHA:904
HP:0012373	Abnormal eye physiology	9569	GTF2IRD1	ORPHA:904
HP:0012373	Abnormal eye physiology	155382	VPS37D	ORPHA:904
HP:0012373	Abnormal eye physiology	155368	METTL27	ORPHA:904
HP:0012373	Abnormal eye physiology	114049	BUD23	ORPHA:904
HP:0012373	Abnormal eye physiology	7458	EIF4H	ORPHA:904
HP:0012373	Abnormal eye physiology	84163	GTF2IRD2	ORPHA:904
HP:0012373	Abnormal eye physiology	26608	TBL2	ORPHA:904
HP:0012373	Abnormal eye physiology	653361	NCF1	ORPHA:904
HP:0012373	Abnormal eye physiology	135886	TMEM270	ORPHA:904
HP:0012373	Abnormal eye physiology	9031	BAZ1B	ORPHA:904
HP:0012373	Abnormal eye physiology	2006	ELN	ORPHA:904
HP:0012373	Abnormal eye physiology	1282	COL4A1	OMIM:175780
HP:0012373	Abnormal eye physiology	1282	COL4A1	ORPHA:899
HP:0012373	Abnormal eye physiology	493856	CISD2	ORPHA:3463
HP:0012373	Abnormal eye physiology	1280	COL2A1	OMIM:108300
HP:0012373	Abnormal eye physiology	4952	OCRL	OMIM:309000
HP:0012373	Abnormal eye physiology	4952	OCRL	ORPHA:534
HP:0012373	Abnormal eye physiology	157570	ESCO2	ORPHA:3103
HP:0012373	Abnormal eye physiology	148789	B3GALNT2	ORPHA:588
HP:0012373	Abnormal eye physiology	148789	B3GALNT2	ORPHA:899
HP:0012373	Abnormal eye physiology	29925	GMPPB	ORPHA:588
HP:0012373	Abnormal eye physiology	79147	FKRP	ORPHA:588
HP:0012373	Abnormal eye physiology	79147	FKRP	OMIM:236670
HP:0012373	Abnormal eye physiology	79147	FKRP	ORPHA:899
HP:0012373	Abnormal eye physiology	9215	LARGE1	ORPHA:588
HP:0012373	Abnormal eye physiology	9215	LARGE1	OMIM:236670
HP:0012373	Abnormal eye physiology	9215	LARGE1	ORPHA:899
HP:0012373	Abnormal eye physiology	29954	POMT2	ORPHA:588
HP:0012373	Abnormal eye physiology	29954	POMT2	OMIM:236670
HP:0012373	Abnormal eye physiology	29954	POMT2	ORPHA:899
HP:0012373	Abnormal eye physiology	29954	POMT2	OMIM:613150
HP:0012373	Abnormal eye physiology	729920	CRPPA	ORPHA:588
HP:0012373	Abnormal eye physiology	729920	CRPPA	OMIM:614643
HP:0012373	Abnormal eye physiology	729920	CRPPA	ORPHA:899
HP:0012373	Abnormal eye physiology	10585	POMT1	ORPHA:588
HP:0012373	Abnormal eye physiology	10585	POMT1	OMIM:236670
HP:0012373	Abnormal eye physiology	10585	POMT1	ORPHA:899
HP:0012373	Abnormal eye physiology	4094	MAF	ORPHA:1272
HP:0012373	Abnormal eye physiology	2934	GSN	ORPHA:85448
HP:0012373	Abnormal eye physiology	2316	FLNA	OMIM:304120
HP:0012373	Abnormal eye physiology	57688	ZSWIM6	OMIM:603671
HP:0012373	Abnormal eye physiology	57688	ZSWIM6	ORPHA:1827
HP:0012373	Abnormal eye physiology	11107	PRDM5	ORPHA:90354
HP:0012373	Abnormal eye physiology	84627	ZNF469	ORPHA:90354
HP:0012373	Abnormal eye physiology	90	ACVR1	ORPHA:337
HP:0012373	Abnormal eye physiology	5727	PTCH1	ORPHA:377
HP:0012373	Abnormal eye physiology	5727	PTCH1	OMIM:109400
HP:0012373	Abnormal eye physiology	8643	PTCH2	ORPHA:377
HP:0012373	Abnormal eye physiology	51684	SUFU	ORPHA:377
HP:0012373	Abnormal eye physiology	5295	PIK3R1	OMIM:269880
HP:0012373	Abnormal eye physiology	5295	PIK3R1	ORPHA:3163
HP:0012373	Abnormal eye physiology	5286	PIK3C2A	OMIM:618440
HP:0012373	Abnormal eye physiology	5286	PIK3C2A	ORPHA:557003
HP:0012373	Abnormal eye physiology	5308	PITX2	OMIM:137600
HP:0012373	Abnormal eye physiology	5308	PITX2	ORPHA:782
HP:0012373	Abnormal eye physiology	5308	PITX2	OMIM:180500
HP:0012373	Abnormal eye physiology	57479	PRR12	OMIM:619539
HP:0012373	Abnormal eye physiology	84168	ANTXR1	OMIM:230740
HP:0012373	Abnormal eye physiology	84168	ANTXR1	ORPHA:2067
HP:0012373	Abnormal eye physiology	545	ATR	ORPHA:808
HP:0012373	Abnormal eye physiology	1062	CENPE	ORPHA:808
HP:0012373	Abnormal eye physiology	5116	PCNT	ORPHA:808
HP:0012373	Abnormal eye physiology	5932	RBBP8	ORPHA:808
HP:0012373	Abnormal eye physiology	79902	NUP85	ORPHA:808
HP:0012373	Abnormal eye physiology	84126	ATRIP	ORPHA:808
HP:0012373	Abnormal eye physiology	10293	TRAIP	ORPHA:808
HP:0012373	Abnormal eye physiology	22995	CEP152	ORPHA:808
HP:0012373	Abnormal eye physiology	10733	PLK4	ORPHA:808
HP:0012373	Abnormal eye physiology	1634	DCN	OMIM:610048
HP:0012373	Abnormal eye physiology	80324	PUS1	ORPHA:2598
HP:0012373	Abnormal eye physiology	51067	YARS2	ORPHA:2598
HP:0012373	Abnormal eye physiology	2776	GNAQ	ORPHA:3205
HP:0012373	Abnormal eye physiology	2776	GNAQ	ORPHA:624
HP:0012373	Abnormal eye physiology	3081	HGD	ORPHA:56
HP:0012373	Abnormal eye physiology	10682	EBP	OMIM:302960
HP:0012373	Abnormal eye physiology	355	FAS	ORPHA:3437
HP:0012373	Abnormal eye physiology	58495	OVOL2	OMIM:122000
HP:0012373	Abnormal eye physiology	58495	OVOL2	ORPHA:98973
HP:0012373	Abnormal eye physiology	341640	FREM2	OMIM:123570
HP:0012373	Abnormal eye physiology	55670	PEX26	ORPHA:912
HP:0012373	Abnormal eye physiology	5824	PEX19	ORPHA:912
HP:0012373	Abnormal eye physiology	5828	PEX2	ORPHA:912
HP:0012373	Abnormal eye physiology	8504	PEX3	ORPHA:912
HP:0012373	Abnormal eye physiology	8799	PEX11B	ORPHA:912
HP:0012373	Abnormal eye physiology	9409	PEX16	ORPHA:912
HP:0012373	Abnormal eye physiology	5190	PEX6	ORPHA:912
HP:0012373	Abnormal eye physiology	5830	PEX5	ORPHA:912
HP:0012373	Abnormal eye physiology	5193	PEX12	ORPHA:912
HP:0012373	Abnormal eye physiology	5194	PEX13	ORPHA:912
HP:0012373	Abnormal eye physiology	5195	PEX14	ORPHA:912
HP:0012373	Abnormal eye physiology	5192	PEX10	ORPHA:912
HP:0012373	Abnormal eye physiology	1545	CYP1B1	ORPHA:98976
HP:0012373	Abnormal eye physiology	7010	TEK	ORPHA:98976
HP:0012373	Abnormal eye physiology	7010	TEK	OMIM:617272
HP:0012373	Abnormal eye physiology	389827	MYMK	OMIM:254940
HP:0012373	Abnormal eye physiology	5080	PAX6	OMIM:106210
HP:0012373	Abnormal eye physiology	5080	PAX6	ORPHA:250923
HP:0012373	Abnormal eye physiology	5080	PAX6	ORPHA:893
HP:0012373	Abnormal eye physiology	5080	PAX6	OMIM:604229
HP:0012373	Abnormal eye physiology	7490	WT1	OMIM:106210
HP:0012373	Abnormal eye physiology	7490	WT1	ORPHA:893
HP:0012373	Abnormal eye physiology	84181	CHD6	ORPHA:2108
HP:0012373	Abnormal eye physiology	6935	ZEB1	ORPHA:98973
HP:0012373	Abnormal eye physiology	30813	VSX1	ORPHA:98973
HP:0012373	Abnormal eye physiology	79977	GRHL2	ORPHA:98973
HP:0012373	Abnormal eye physiology	1296	COL8A2	ORPHA:98973
HP:0012373	Abnormal eye physiology	4693	NDP	ORPHA:90050
HP:0012373	Abnormal eye physiology	4693	NDP	ORPHA:190
HP:0012373	Abnormal eye physiology	4693	NDP	ORPHA:649
HP:0012373	Abnormal eye physiology	4041	LRP5	ORPHA:90050
HP:0012373	Abnormal eye physiology	8322	FZD4	ORPHA:90050
HP:0012373	Abnormal eye physiology	92840	REEP6	ORPHA:791
HP:0012373	Abnormal eye physiology	6094	ROM1	ORPHA:791
HP:0012373	Abnormal eye physiology	6017	RLBP1	ORPHA:791
HP:0012373	Abnormal eye physiology	7401	CLRN1	ORPHA:791
HP:0012373	Abnormal eye physiology	24	ABCA4	ORPHA:791
HP:0012373	Abnormal eye physiology	130557	ZNF513	ORPHA:791
HP:0012373	Abnormal eye physiology	92211	CDHR1	ORPHA:791
HP:0012373	Abnormal eye physiology	23568	ARL2BP	ORPHA:791
HP:0012373	Abnormal eye physiology	6121	RPE65	ORPHA:791
HP:0012373	Abnormal eye physiology	54806	AHI1	ORPHA:791
HP:0012373	Abnormal eye physiology	6101	RP1	ORPHA:791
HP:0012373	Abnormal eye physiology	3419	IDH3A	ORPHA:791
HP:0012373	Abnormal eye physiology	4751	NEK2	ORPHA:791
HP:0012373	Abnormal eye physiology	346007	EYS	ORPHA:791
HP:0012373	Abnormal eye physiology	8100	IFT88	ORPHA:791
HP:0012373	Abnormal eye physiology	23020	SNRNP200	ORPHA:791
HP:0012373	Abnormal eye physiology	762	CA4	ORPHA:791
HP:0012373	Abnormal eye physiology	138050	HGSNAT	ORPHA:791
HP:0012373	Abnormal eye physiology	196	AHR	ORPHA:791
HP:0012373	Abnormal eye physiology	3614	IMPDH1	ORPHA:791
HP:0012373	Abnormal eye physiology	123016	TTC8	ORPHA:791
HP:0012373	Abnormal eye physiology	6103	RPGR	ORPHA:791
HP:0012373	Abnormal eye physiology	1406	CRX	ORPHA:791
HP:0012373	Abnormal eye physiology	5148	PDE6G	ORPHA:791
HP:0012373	Abnormal eye physiology	26160	IFT172	ORPHA:791
HP:0012373	Abnormal eye physiology	26121	PRPF31	ORPHA:791
HP:0012373	Abnormal eye physiology	583	BBS2	ORPHA:791
HP:0012373	Abnormal eye physiology	4117	MAK	ORPHA:791
HP:0012373	Abnormal eye physiology	25794	FSCN2	ORPHA:791
HP:0012373	Abnormal eye physiology	375298	CERKL	ORPHA:791
HP:0012373	Abnormal eye physiology	3420	IDH3B	ORPHA:791
HP:0012373	Abnormal eye physiology	57670	KIAA1549	ORPHA:791
HP:0012373	Abnormal eye physiology	7275	TUB	ORPHA:791
HP:0012373	Abnormal eye physiology	24148	PRPF6	ORPHA:791
HP:0012373	Abnormal eye physiology	10461	MERTK	ORPHA:791
HP:0012373	Abnormal eye physiology	57709	SLC7A14	ORPHA:791
HP:0012373	Abnormal eye physiology	768206	PRCD	ORPHA:791
HP:0012373	Abnormal eye physiology	7399	USH2A	ORPHA:791
HP:0012373	Abnormal eye physiology	23370	ARHGEF18	ORPHA:791
HP:0012373	Abnormal eye physiology	5949	RBP3	ORPHA:791
HP:0012373	Abnormal eye physiology	6010	RHO	ORPHA:791
HP:0012373	Abnormal eye physiology	6100	RP9	ORPHA:791
HP:0012373	Abnormal eye physiology	10002	NR2E3	ORPHA:791
HP:0012373	Abnormal eye physiology	9227	LRAT	ORPHA:791
HP:0012373	Abnormal eye physiology	84140	FAM161A	ORPHA:791
HP:0012373	Abnormal eye physiology	55812	SPATA7	ORPHA:791
HP:0012373	Abnormal eye physiology	79797	ZNF408	ORPHA:791
HP:0012373	Abnormal eye physiology	403	ARL3	ORPHA:791
HP:0012373	Abnormal eye physiology	5145	PDE6A	ORPHA:791
HP:0012373	Abnormal eye physiology	10210	TOPORS	ORPHA:791
HP:0012373	Abnormal eye physiology	8842	PROM1	ORPHA:791
HP:0012373	Abnormal eye physiology	9128	PRPF4	ORPHA:791
HP:0012373	Abnormal eye physiology	145226	RDH12	ORPHA:791
HP:0012373	Abnormal eye physiology	50939	IMPG2	ORPHA:791
HP:0012373	Abnormal eye physiology	57545	CC2D2A	ORPHA:791
HP:0012373	Abnormal eye physiology	8481	OFD1	ORPHA:791
HP:0012373	Abnormal eye physiology	49855	SCAPER	ORPHA:791
HP:0012373	Abnormal eye physiology	9742	IFT140	ORPHA:791
HP:0012373	Abnormal eye physiology	2979	GUCA1B	ORPHA:791
HP:0012373	Abnormal eye physiology	1259	CNGA1	ORPHA:791
HP:0012373	Abnormal eye physiology	1258	CNGB1	ORPHA:791
HP:0012373	Abnormal eye physiology	60509	AGBL5	ORPHA:791
HP:0012373	Abnormal eye physiology	5961	PRPH2	ORPHA:791
HP:0012373	Abnormal eye physiology	388939	PCARE	ORPHA:791
HP:0012373	Abnormal eye physiology	9785	DHX38	ORPHA:791
HP:0012373	Abnormal eye physiology	7287	TULP1	ORPHA:791
HP:0012373	Abnormal eye physiology	5995	RGR	ORPHA:791
HP:0012373	Abnormal eye physiology	9129	PRPF3	ORPHA:791
HP:0012373	Abnormal eye physiology	55975	KLHL7	ORPHA:791
HP:0012373	Abnormal eye physiology	3617	IMPG1	ORPHA:791
HP:0012373	Abnormal eye physiology	94137	RP1L1	ORPHA:791
HP:0012373	Abnormal eye physiology	5158	PDE6B	ORPHA:791
HP:0012373	Abnormal eye physiology	6102	RP2	ORPHA:791
HP:0012373	Abnormal eye physiology	55857	KIZ	ORPHA:791
HP:0012373	Abnormal eye physiology	64218	SEMA4A	ORPHA:791
HP:0012373	Abnormal eye physiology	4901	NRL	ORPHA:791
HP:0012373	Abnormal eye physiology	157657	CFAP418	ORPHA:791
HP:0012373	Abnormal eye physiology	10594	PRPF8	ORPHA:791
HP:0012373	Abnormal eye physiology	6295	SAG	ORPHA:791
HP:0012373	Abnormal eye physiology	79947	DHDDS	ORPHA:791
HP:0012373	Abnormal eye physiology	5351	PLOD1	OMIM:225400
HP:0012373	Abnormal eye physiology	5351	PLOD1	ORPHA:1900
HP:0012373	Abnormal eye physiology	54892	NCAPG2	OMIM:618460
HP:0012373	Abnormal eye physiology	1417	CRYBB3	OMIM:609741
HP:0012373	Abnormal eye physiology	411	ARSB	OMIM:253200
HP:0012373	Abnormal eye physiology	26007	TKFC	ORPHA:1369
HP:0012373	Abnormal eye physiology	55750	AGK	ORPHA:1369
HP:0012373	Abnormal eye physiology	55750	AGK	OMIM:212350
HP:0012373	Abnormal eye physiology	4010	LMX1B	OMIM:161200
HP:0012373	Abnormal eye physiology	10397	NDRG1	OMIM:601455
HP:0012373	Abnormal eye physiology	1387	CREBBP	ORPHA:353281
HP:0012373	Abnormal eye physiology	1387	CREBBP	OMIM:180849
HP:0012373	Abnormal eye physiology	1387	CREBBP	ORPHA:353277
HP:0012373	Abnormal eye physiology	54765	TRIM44	OMIM:617142
HP:0012373	Abnormal eye physiology	54765	TRIM44	ORPHA:250923
HP:0012373	Abnormal eye physiology	23586	RIGI	OMIM:616298
HP:0012373	Abnormal eye physiology	10413	YAP1	ORPHA:1473
HP:0012373	Abnormal eye physiology	5831	PYCR1	OMIM:614438
HP:0012373	Abnormal eye physiology	2033	EP300	ORPHA:353284
HP:0012373	Abnormal eye physiology	2033	EP300	OMIM:180849
HP:0012373	Abnormal eye physiology	10329	RXYLT1	ORPHA:899
HP:0012373	Abnormal eye physiology	1605	DAG1	ORPHA:899
HP:0012373	Abnormal eye physiology	1605	DAG1	OMIM:616538
HP:0012373	Abnormal eye physiology	11041	B4GAT1	ORPHA:899
HP:0012373	Abnormal eye physiology	84197	POMK	ORPHA:899
HP:0012373	Abnormal eye physiology	114548	NLRP3	ORPHA:575
HP:0012373	Abnormal eye physiology	4763	NF1	OMIM:162200
HP:0012373	Abnormal eye physiology	4763	NF1	ORPHA:97685
HP:0012373	Abnormal eye physiology	8671	SLC4A4	OMIM:604278
HP:0012373	Abnormal eye physiology	4810	NHS	OMIM:302350
HP:0012373	Abnormal eye physiology	4810	NHS	ORPHA:627
HP:0012373	Abnormal eye physiology	4784	NFIX	OMIM:602535
HP:0012373	Abnormal eye physiology	2530	FUT8	OMIM:618005
HP:0012373	Abnormal eye physiology	92255	LMBRD2	OMIM:619694
HP:0012373	Abnormal eye physiology	91851	CHRDL1	OMIM:309300
HP:0012373	Abnormal eye physiology	1312	COMT	ORPHA:567
HP:0012373	Abnormal eye physiology	221037	JMJD1C	ORPHA:567
HP:0012373	Abnormal eye physiology	2812	GP1BB	ORPHA:567
HP:0012373	Abnormal eye physiology	6239	RREB1	ORPHA:567
HP:0012373	Abnormal eye physiology	6899	TBX1	ORPHA:567
HP:0012373	Abnormal eye physiology	7290	HIRA	ORPHA:567
HP:0012373	Abnormal eye physiology	9632	SEC24C	ORPHA:567
HP:0012373	Abnormal eye physiology	7353	UFD1	ORPHA:567
HP:0012373	Abnormal eye physiology	421	ARVCF	ORPHA:567
HP:0012373	Abnormal eye physiology	1009	CDH11	OMIM:211380
HP:0012373	Abnormal eye physiology	54539	NDUFB11	ORPHA:2556
HP:0012373	Abnormal eye physiology	1349	COX7B	ORPHA:2556
HP:0012373	Abnormal eye physiology	3052	HCCS	ORPHA:2556
HP:0012373	Abnormal eye physiology	8260	NAA10	ORPHA:568
HP:0012373	Abnormal eye physiology	128637	TBC1D20	OMIM:615663
HP:0012373	Abnormal eye physiology	2707	GJB3	ORPHA:317
HP:0012373	Abnormal eye physiology	2531	KDSR	ORPHA:317
HP:0012373	Abnormal eye physiology	127534	GJB4	ORPHA:317
HP:0012373	Abnormal eye physiology	56244	BTNL2	ORPHA:797
HP:0012373	Abnormal eye physiology	3123	HLA-DRB1	ORPHA:797
HP:0012373	Abnormal eye physiology	3123	HLA-DRB1	OMIM:181000
HP:0012373	Abnormal eye physiology	23476	BRD4	ORPHA:199
HP:0012373	Abnormal eye physiology	9126	SMC3	ORPHA:199
HP:0012373	Abnormal eye physiology	8243	SMC1A	ORPHA:199
HP:0012373	Abnormal eye physiology	6878	TAF6	ORPHA:199
HP:0012373	Abnormal eye physiology	25836	NIPBL	ORPHA:199
HP:0012373	Abnormal eye physiology	55869	HDAC8	ORPHA:199
HP:0012373	Abnormal eye physiology	5885	RAD21	ORPHA:199
HP:0012373	Abnormal eye physiology	7040	TGFB1	ORPHA:1328
HP:0012373	Abnormal eye physiology	207	AKT1	ORPHA:744
HP:0012373	Abnormal eye physiology	80781	COL18A1	OMIM:267750
HP:0012373	Abnormal eye physiology	1412	CRYBA2	OMIM:115900
HP:0012373	Abnormal eye physiology	7078	TIMP3	OMIM:136900
HP:0012373	Abnormal eye physiology	28952	CCDC22	OMIM:300963
HP:0012373	Abnormal eye physiology	28952	CCDC22	ORPHA:7
HP:0012373	Abnormal eye physiology	3832	KIF11	ORPHA:2526
HP:0012373	Abnormal eye physiology	627	BDNF	ORPHA:893
HP:0012373	Abnormal eye physiology	126792	B3GALT6	ORPHA:536467
HP:0012373	Abnormal eye physiology	1736	DKC1	OMIM:301108
HP:0012373	Abnormal eye physiology	3739	KCNA4	OMIM:618284
HP:0012373	Abnormal eye physiology	10273	STUB1	ORPHA:412057
HP:0012373	Abnormal eye physiology	100151683	RNU4ATAC	ORPHA:2636
HP:0012373	Abnormal eye physiology	387	RHOA	OMIM:618727
HP:0012373	Abnormal eye physiology	64131	XYLT1	ORPHA:1425
HP:0012373	Abnormal eye physiology	124583	CANT1	ORPHA:1425
HP:0012373	Abnormal eye physiology	55790	CSGALNACT1	ORPHA:1425
HP:0012373	Abnormal eye physiology	3265	HRAS	ORPHA:2874
HP:0012373	Abnormal eye physiology	9897	WASHC5	ORPHA:7
HP:0012373	Abnormal eye physiology	57020	VPS35L	ORPHA:7
HP:0012373	Abnormal eye physiology	56896	DPYSL5	ORPHA:7
HP:0012373	Abnormal eye physiology	9130	FAM50A	OMIM:300261
HP:0012373	Abnormal eye physiology	23404	EXOSC2	OMIM:617763
HP:0012373	Abnormal eye physiology	7543	ZFX	OMIM:301118
HP:0012373	Abnormal eye physiology	9652	SKIC3	ORPHA:84064
HP:0012373	Abnormal eye physiology	6499	SKIC2	ORPHA:84064
HP:0012373	Abnormal eye physiology	1462	VCAN	OMIM:143200
HP:0012373	Abnormal eye physiology	80036	TRPM3	OMIM:620253
HP:0012373	Abnormal eye physiology	29957	SLC25A24	ORPHA:2095
HP:0012373	Abnormal eye physiology	3845	KRAS	ORPHA:2612
HP:0012373	Abnormal eye physiology	3845	KRAS	ORPHA:1340
HP:0012373	Abnormal eye physiology	4893	NRAS	ORPHA:2612
HP:0012373	Abnormal eye physiology	25885	POLR1A	ORPHA:1200
HP:0012373	Abnormal eye physiology	10907	TXNL4A	ORPHA:1200
HP:0012373	Abnormal eye physiology	4035	LRP1	OMIM:604093
HP:0012373	Abnormal eye physiology	2321	FLT1	ORPHA:275555
HP:0012373	Abnormal eye physiology	219736	STOX1	ORPHA:275555
HP:0012373	Abnormal eye physiology	10699	CORIN	ORPHA:275555
HP:0012373	Abnormal eye physiology	5590	PRKCZ	ORPHA:1606
HP:0012373	Abnormal eye physiology	23013	SPEN	ORPHA:1606
HP:0012373	Abnormal eye physiology	8510	MMP23B	ORPHA:1606
HP:0012373	Abnormal eye physiology	7798	LUZP1	ORPHA:1606
HP:0012373	Abnormal eye physiology	6497	SKI	ORPHA:1606
HP:0012373	Abnormal eye physiology	10630	PDPN	ORPHA:1606
HP:0012373	Abnormal eye physiology	3339	HSPG2	ORPHA:1606
HP:0012373	Abnormal eye physiology	10277	UBE4B	ORPHA:1606
HP:0012373	Abnormal eye physiology	8514	KCNAB2	ORPHA:1606
HP:0012373	Abnormal eye physiology	473	RERE	ORPHA:1606
HP:0012373	Abnormal eye physiology	63976	PRDM16	ORPHA:1606
HP:0012373	Abnormal eye physiology	54897	CASZ1	ORPHA:1606
HP:0012373	Abnormal eye physiology	4221	MEN1	ORPHA:97279
HP:0012373	Abnormal eye physiology	7528	YY1	ORPHA:97279
HP:0012373	Abnormal eye physiology	6469	SHH	OMIM:611638
HP:0012373	Abnormal eye physiology	1859	DYRK1A	ORPHA:464311
HP:0012373	Abnormal eye physiology	347733	TUBB2B	ORPHA:1766
HP:0012373	Abnormal eye physiology	7436	VLDLR	ORPHA:1766
HP:0012373	Abnormal eye physiology	124997	WDR81	ORPHA:1766
HP:0012373	Abnormal eye physiology	51761	ATP8A2	ORPHA:1766
HP:0012373	Abnormal eye physiology	767	CA8	ORPHA:1766
HP:0012373	Abnormal eye physiology	154881	KCTD7	ORPHA:263516
HP:0012373	Abnormal eye physiology	440138	ALG11	ORPHA:280071
HP:0012373	Abnormal eye physiology	2263	FGFR2	ORPHA:1555
HP:0012373	Abnormal eye physiology	1654	DDX3X	ORPHA:457260
HP:0012373	Abnormal eye physiology	6299	SALL1	ORPHA:857
HP:0012373	Abnormal eye physiology	51339	DACT1	ORPHA:857
HP:0012373	Abnormal eye physiology	57492	ARID1B	ORPHA:251056
HP:0012373	Abnormal eye physiology	773	CACNA1A	ORPHA:98758
HP:0012373	Abnormal eye physiology	773	CACNA1A	ORPHA:442835
HP:0012373	Abnormal eye physiology	2103	ESRRB	OMIM:608565
HP:0012373	Abnormal eye physiology	55636	CHD7	ORPHA:138
HP:0012373	Abnormal eye physiology	9723	SEMA3E	ORPHA:138
HP:0012373	Abnormal eye physiology	1908	EDN3	ORPHA:897
HP:0012373	Abnormal eye physiology	4286	MITF	ORPHA:897
HP:0012373	Abnormal eye physiology	1910	EDNRB	ORPHA:897
HP:0012373	Abnormal eye physiology	6663	SOX10	ORPHA:897
HP:0012373	Abnormal eye physiology	1500	CTNND1	ORPHA:1997
HP:0012373	Abnormal eye physiology	999	CDH1	ORPHA:1997
HP:0012373	Abnormal eye physiology	23314	SATB2	ORPHA:576283
HP:0012373	Abnormal eye physiology	5077	PAX3	ORPHA:894
HP:0012373	Abnormal eye physiology	6638	SNRPN	ORPHA:177904
HP:0012373	Abnormal eye physiology	6638	SNRPN	ORPHA:177901
HP:0012373	Abnormal eye physiology	4692	NDN	ORPHA:177904
HP:0012373	Abnormal eye physiology	4692	NDN	ORPHA:177901
HP:0012373	Abnormal eye physiology	54551	MAGEL2	ORPHA:177904
HP:0012373	Abnormal eye physiology	54551	MAGEL2	ORPHA:177901
HP:0012373	Abnormal eye physiology	4948	OCA2	ORPHA:177904
HP:0012373	Abnormal eye physiology	4948	OCA2	ORPHA:177901
HP:0012373	Abnormal eye physiology	3977	LIFR	ORPHA:3206
HP:0012373	Abnormal eye physiology	340024	SLC6A19	ORPHA:2116
HP:0012373	Abnormal eye physiology	57393	CLTRN	ORPHA:2116
HP:0012373	Abnormal eye physiology	3717	JAK2	ORPHA:729
HP:0012373	Abnormal eye physiology	2301	FOXE3	ORPHA:83461
HP:0012373	Abnormal eye physiology	92344	GORAB	ORPHA:2078
HP:0012373	Abnormal eye physiology	5604	MAP2K1	ORPHA:1340
HP:0012373	Abnormal eye physiology	5605	MAP2K2	ORPHA:1340
HP:0012373	Abnormal eye physiology	673	BRAF	ORPHA:1340
HP:0012373	Abnormal eye physiology	5663	PSEN1	ORPHA:1020
HP:0012373	Abnormal eye physiology	5664	PSEN2	ORPHA:1020
HP:0012373	Abnormal eye physiology	10452	TOMM40	ORPHA:1020
HP:0012373	Abnormal eye physiology	351	APP	ORPHA:1020
HP:0012373	Abnormal eye physiology	54209	TREM2	ORPHA:1020
HP:0012373	Abnormal eye physiology	10347	ABCA7	ORPHA:1020
HP:0012373	Abnormal eye physiology	6653	SORL1	ORPHA:1020
HP:0012373	Abnormal eye physiology	51322	WAC	ORPHA:466950
HP:0012373	Abnormal eye physiology	672	BRCA1	ORPHA:84
HP:0012373	Abnormal eye physiology	10459	MAD2L2	ORPHA:84
HP:0012373	Abnormal eye physiology	7516	XRCC2	ORPHA:84
HP:0012373	Abnormal eye physiology	29089	UBE2T	ORPHA:84
HP:0012373	Abnormal eye physiology	675	BRCA2	ORPHA:84
HP:0012373	Abnormal eye physiology	55120	FANCL	ORPHA:84
HP:0012373	Abnormal eye physiology	2177	FANCD2	ORPHA:84
HP:0012373	Abnormal eye physiology	2175	FANCA	ORPHA:84
HP:0012373	Abnormal eye physiology	2187	FANCB	ORPHA:84
HP:0012373	Abnormal eye physiology	2176	FANCC	ORPHA:84
HP:0012373	Abnormal eye physiology	2178	FANCE	ORPHA:84
HP:0012373	Abnormal eye physiology	2188	FANCF	ORPHA:84
HP:0012373	Abnormal eye physiology	2189	FANCG	ORPHA:84
HP:0012373	Abnormal eye physiology	5888	RAD51	ORPHA:84
HP:0012373	Abnormal eye physiology	5889	RAD51C	ORPHA:84
HP:0012373	Abnormal eye physiology	55159	RFWD3	ORPHA:84
HP:0012373	Abnormal eye physiology	83990	BRIP1	ORPHA:84
HP:0012373	Abnormal eye physiology	57697	FANCM	ORPHA:84
HP:0012373	Abnormal eye physiology	79728	PALB2	ORPHA:84
HP:0012373	Abnormal eye physiology	84464	SLX4	ORPHA:84
HP:0012373	Abnormal eye physiology	2072	ERCC4	ORPHA:84
HP:0012373	Abnormal eye physiology	55215	FANCI	ORPHA:84
HP:0012373	Abnormal eye physiology	5340	PLG	ORPHA:722
HP:0012373	Abnormal eye physiology	1806	DPYD	ORPHA:293948
HP:0012373	Abnormal eye physiology	84818	IL17RC	ORPHA:1334
HP:0012373	Abnormal eye physiology	64581	CLEC7A	ORPHA:1334
HP:0012373	Abnormal eye physiology	23765	IL17RA	ORPHA:1334
HP:0012373	Abnormal eye physiology	10758	TRAF3IP2	ORPHA:1334
HP:0012373	Abnormal eye physiology	112744	IL17F	ORPHA:1334
HP:0012373	Abnormal eye physiology	6304	SATB1	OMIM:619229
HP:0012373	Abnormal eye physiology	3737	KCNA2	ORPHA:442835
HP:0012373	Abnormal eye physiology	1759	DNM1	ORPHA:442835
HP:0012373	Abnormal eye physiology	8120	AP3B2	ORPHA:442835
HP:0012373	Abnormal eye physiology	523	ATP6V1A	ORPHA:442835
HP:0012373	Abnormal eye physiology	10991	SLC38A3	ORPHA:442835
HP:0012373	Abnormal eye physiology	51343	FZR1	ORPHA:442835
HP:0012373	Abnormal eye physiology	3747	KCNC2	ORPHA:442835
HP:0012373	Abnormal eye physiology	1917	EEF1A2	ORPHA:442835
HP:0012373	Abnormal eye physiology	23219	FBXO28	ORPHA:442835
HP:0012373	Abnormal eye physiology	2561	GABRB2	ORPHA:442835
HP:0012373	Abnormal eye physiology	8831	SYNGAP1	ORPHA:442835
HP:0012373	Abnormal eye physiology	2558	GABRA5	ORPHA:442835
HP:0012373	Abnormal eye physiology	2906	GRIN2D	ORPHA:442835
HP:0012373	Abnormal eye physiology	116150	NUS1	ORPHA:442835
HP:0012373	Abnormal eye physiology	1213	CLTC	ORPHA:442835
HP:0012373	Abnormal eye physiology	51741	WWOX	ORPHA:442835
HP:0012373	Abnormal eye physiology	23334	SZT2	ORPHA:442835
HP:0012373	Abnormal eye physiology	348980	HCN1	ORPHA:442835
HP:0012373	Abnormal eye physiology	25977	NECAP1	ORPHA:442835
HP:0012373	Abnormal eye physiology	23241	PACS2	ORPHA:442835
HP:0012373	Abnormal eye physiology	16	AARS1	ORPHA:442835
HP:0012373	Abnormal eye physiology	6334	SCN8A	ORPHA:442835
HP:0012373	Abnormal eye physiology	9568	GABBR2	ORPHA:442835
HP:0012373	Abnormal eye physiology	2555	GABRA2	ORPHA:442835
HP:0012373	Abnormal eye physiology	55152	DALRD3	ORPHA:442835
HP:0012373	Abnormal eye physiology	26999	CYFIP2	ORPHA:442835
HP:0012373	Abnormal eye physiology	4915	NTRK2	ORPHA:442835
HP:0012373	Abnormal eye physiology	25973	PARS2	ORPHA:442835
HP:0012373	Abnormal eye physiology	23097	CDK19	ORPHA:442835
HP:0012373	Abnormal eye physiology	2257	FGF12	ORPHA:442835
HP:0012373	Abnormal eye physiology	5530	PPP3CA	ORPHA:442835
HP:0012373	Abnormal eye physiology	22906	TRAK1	ORPHA:442835
HP:0012373	Abnormal eye physiology	2566	GABRG2	ORPHA:442835
HP:0012373	Abnormal eye physiology	7532	YWHAG	ORPHA:442835
HP:0012373	Abnormal eye physiology	79876	UBA5	ORPHA:442835
HP:0012373	Abnormal eye physiology	6328	SCN3A	ORPHA:442835
HP:0012373	Abnormal eye physiology	781	CACNA2D1	ORPHA:442835
HP:0012373	Abnormal eye physiology	10659	CELF2	ORPHA:442835
HP:0012373	Abnormal eye physiology	774	CACNA1B	ORPHA:442835
HP:0012373	Abnormal eye physiology	51412	ACTL6B	ORPHA:442835
HP:0012373	Abnormal eye physiology	2290	FOXG1	ORPHA:442835
HP:0012373	Abnormal eye physiology	6506	SLC1A2	ORPHA:442835
HP:0012373	Abnormal eye physiology	8867	SYNJ1	ORPHA:442835
HP:0012373	Abnormal eye physiology	477	ATP1A2	ORPHA:442835
HP:0012373	Abnormal eye physiology	3745	KCNB1	ORPHA:442835
HP:0012373	Abnormal eye physiology	284111	SLC13A5	ORPHA:442835
HP:0012373	Abnormal eye physiology	22866	CNKSR2	ORPHA:442835
HP:0012373	Abnormal eye physiology	6323	SCN1A	ORPHA:442835
HP:0012373	Abnormal eye physiology	1001	CDH3	ORPHA:1897
HP:0012373	Abnormal eye physiology	56172	ANKH	ORPHA:1522
HP:0012373	Abnormal eye physiology	54507	ADAMTSL4	ORPHA:1885
HP:0012373	Abnormal eye physiology	19	ABCA1	OMIM:205400
HP:0012373	Abnormal eye physiology	1161	ERCC8	ORPHA:90321
HP:0012373	Abnormal eye physiology	1161	ERCC8	ORPHA:90322
HP:0012373	Abnormal eye physiology	2074	ERCC6	ORPHA:90321
HP:0012373	Abnormal eye physiology	2074	ERCC6	ORPHA:90322
HP:0012373	Abnormal eye physiology	2074	ERCC6	ORPHA:1466
HP:0012373	Abnormal eye physiology	2067	ERCC1	ORPHA:90322
HP:0012373	Abnormal eye physiology	2067	ERCC1	ORPHA:1466
HP:0012373	Abnormal eye physiology	4072	EPCAM	ORPHA:144
HP:0012373	Abnormal eye physiology	4292	MLH1	ORPHA:144
HP:0012373	Abnormal eye physiology	5395	PMS2	ORPHA:144
HP:0012373	Abnormal eye physiology	7048	TGFBR2	ORPHA:144
HP:0012373	Abnormal eye physiology	2956	MSH6	ORPHA:144
HP:0012373	Abnormal eye physiology	5378	PMS1	ORPHA:144
HP:0012373	Abnormal eye physiology	4436	MSH2	ORPHA:144
HP:0012373	Abnormal eye physiology	5322	PLA2G5	OMIM:228980
HP:0012373	Abnormal eye physiology	200205	IBA57	OMIM:616451
HP:0012373	Abnormal eye physiology	200205	IBA57	ORPHA:468661
HP:0012373	Abnormal eye physiology	200205	IBA57	OMIM:615330
HP:0012373	Abnormal eye physiology	5426	POLE	ORPHA:440437
HP:0012373	Abnormal eye physiology	657	BMPR1A	ORPHA:440437
HP:0012373	Abnormal eye physiology	4595	MUTYH	ORPHA:440437
HP:0012373	Abnormal eye physiology	5424	POLD1	ORPHA:440437
HP:0012373	Abnormal eye physiology	11200	CHEK2	ORPHA:440437
HP:0012373	Abnormal eye physiology	26504	CNNM4	ORPHA:1873
HP:0012373	Abnormal eye physiology	26504	CNNM4	OMIM:217080
HP:0012373	Abnormal eye physiology	79639	TMEM53	OMIM:619727
HP:0012373	Abnormal eye physiology	166378	AFG2A	OMIM:616577
HP:0012373	Abnormal eye physiology	166378	AFG2A	ORPHA:457351
HP:0012373	Abnormal eye physiology	27229	TUBGCP4	OMIM:616335
HP:0012373	Abnormal eye physiology	27229	TUBGCP4	ORPHA:2518
HP:0012373	Abnormal eye physiology	64802	NMNAT1	ORPHA:1872
HP:0012373	Abnormal eye physiology	64802	NMNAT1	OMIM:619260
HP:0012373	Abnormal eye physiology	84839	RAX2	ORPHA:1872
HP:0012373	Abnormal eye physiology	57096	RPGRIP1	ORPHA:1872
HP:0012373	Abnormal eye physiology	57096	RPGRIP1	OMIM:608194
HP:0012373	Abnormal eye physiology	5956	OPN1LW	ORPHA:1872
HP:0012373	Abnormal eye physiology	5956	OPN1LW	ORPHA:16
HP:0012373	Abnormal eye physiology	5956	OPN1LW	OMIM:303700
HP:0012373	Abnormal eye physiology	755	CFAP410	ORPHA:1872
HP:0012373	Abnormal eye physiology	8754	ADAM9	ORPHA:1872
HP:0012373	Abnormal eye physiology	8754	ADAM9	OMIM:612775
HP:0012373	Abnormal eye physiology	3000	GUCY2D	ORPHA:1872
HP:0012373	Abnormal eye physiology	3000	GUCY2D	ORPHA:75377
HP:0012373	Abnormal eye physiology	22999	RIMS1	ORPHA:1872
HP:0012373	Abnormal eye physiology	128338	DRAM2	ORPHA:1872
HP:0012373	Abnormal eye physiology	2652	OPN1MW	ORPHA:1872
HP:0012373	Abnormal eye physiology	2652	OPN1MW	ORPHA:16
HP:0012373	Abnormal eye physiology	2652	OPN1MW	OMIM:303700
HP:0012373	Abnormal eye physiology	9094	UNC119	ORPHA:1872
HP:0012373	Abnormal eye physiology	2978	GUCA1A	ORPHA:1872
HP:0012373	Abnormal eye physiology	2978	GUCA1A	ORPHA:1871
HP:0012373	Abnormal eye physiology	2978	GUCA1A	ORPHA:75377
HP:0012373	Abnormal eye physiology	282809	POC1B	ORPHA:1872
HP:0012373	Abnormal eye physiology	282809	POC1B	OMIM:615973
HP:0012373	Abnormal eye physiology	83394	PITPNM3	ORPHA:1872
HP:0012373	Abnormal eye physiology	23093	TTLL5	ORPHA:1872
HP:0012373	Abnormal eye physiology	83723	TLCD3B	ORPHA:1872
HP:0012373	Abnormal eye physiology	23746	AIPL1	ORPHA:1872
HP:0012373	Abnormal eye physiology	9364	RAB28	ORPHA:1872
HP:0012373	Abnormal eye physiology	10730	YME1L1	OMIM:617302
HP:0012373	Abnormal eye physiology	85015	USP45	OMIM:618513
HP:0012373	Abnormal eye physiology	6023	RMRP	ORPHA:175
HP:0012373	Abnormal eye physiology	535	ATP6V0A1	OMIM:619970
HP:0012373	Abnormal eye physiology	283652	SLC24A5	OMIM:113750
HP:0012373	Abnormal eye physiology	91869	RFT1	ORPHA:244310
HP:0012373	Abnormal eye physiology	816	CAMK2B	OMIM:617799
HP:0012373	Abnormal eye physiology	815	CAMK2A	OMIM:617798
HP:0012373	Abnormal eye physiology	80201	HKDC1	OMIM:619614
HP:0012373	Abnormal eye physiology	83480	PUS3	ORPHA:488627
HP:0012373	Abnormal eye physiology	157680	VPS13B	OMIM:216550
HP:0012373	Abnormal eye physiology	1420	CRYGC	OMIM:604307
HP:0012373	Abnormal eye physiology	80208	SPG11	ORPHA:2822
HP:0012373	Abnormal eye physiology	80208	SPG11	OMIM:604360
HP:0012373	Abnormal eye physiology	388962	BOLA3	OMIM:614299
HP:0012373	Abnormal eye physiology	5950	RBP4	OMIM:615147
HP:0012373	Abnormal eye physiology	167691	LCA5	OMIM:604537
HP:0012373	Abnormal eye physiology	167691	LCA5	ORPHA:364055
HP:0012373	Abnormal eye physiology	5518	PPP2R1A	OMIM:616362
HP:0012373	Abnormal eye physiology	7157	TP53	ORPHA:2807
HP:0012373	Abnormal eye physiology	7157	TP53	ORPHA:3318
HP:0012373	Abnormal eye physiology	3769	KCNJ13	OMIM:614186
HP:0012373	Abnormal eye physiology	9681	DEPDC5	OMIM:620504
HP:0012373	Abnormal eye physiology	57282	SLC4A10	OMIM:620746
HP:0012373	Abnormal eye physiology	150468	CKAP2L	OMIM:272440
HP:0012373	Abnormal eye physiology	285362	SUMF1	ORPHA:585
HP:0012373	Abnormal eye physiology	8517	IKBKG	ORPHA:464
HP:0012373	Abnormal eye physiology	122961	ISCA2	OMIM:616370
HP:0012373	Abnormal eye physiology	84343	HPS3	OMIM:614072
HP:0012373	Abnormal eye physiology	2232	FDXR	ORPHA:543470
HP:0012373	Abnormal eye physiology	2232	FDXR	OMIM:617717
HP:0012373	Abnormal eye physiology	84062	DTNBP1	OMIM:614076
HP:0012373	Abnormal eye physiology	56947	MFF	ORPHA:485421
HP:0012373	Abnormal eye physiology	56947	MFF	OMIM:617086
HP:0012373	Abnormal eye physiology	2271	FH	OMIM:606812
HP:0012373	Abnormal eye physiology	197258	FCSK	OMIM:618324
HP:0012373	Abnormal eye physiology	9922	IQSEC1	OMIM:618687
HP:0012373	Abnormal eye physiology	125988	MICOS13	OMIM:618329
HP:0012373	Abnormal eye physiology	125988	MICOS13	ORPHA:67047
HP:0012373	Abnormal eye physiology	84131	CEP78	OMIM:617236
HP:0012373	Abnormal eye physiology	2055	CLN8	ORPHA:1947
HP:0012373	Abnormal eye physiology	57192	MCOLN1	OMIM:252650
HP:0012373	Abnormal eye physiology	9896	FIG4	ORPHA:208441
HP:0012373	Abnormal eye physiology	8295	TRRAP	OMIM:618454
HP:0012373	Abnormal eye physiology	6857	SYT1	OMIM:618218
HP:0012373	Abnormal eye physiology	64132	XYLT2	OMIM:605822
HP:0012373	Abnormal eye physiology	64132	XYLT2	OMIM:264800
HP:0012373	Abnormal eye physiology	50	ACO2	OMIM:616289
HP:0012373	Abnormal eye physiology	83548	COG3	OMIM:620546
HP:0012373	Abnormal eye physiology	51117	COQ4	OMIM:620666
HP:0012373	Abnormal eye physiology	84320	ACBD6	OMIM:620785
HP:0012373	Abnormal eye physiology	10102	TSFM	OMIM:610505
HP:0012373	Abnormal eye physiology	1186	CLCN7	ORPHA:667
HP:0012373	Abnormal eye physiology	1186	CLCN7	OMIM:611490
HP:0012373	Abnormal eye physiology	1186	CLCN7	ORPHA:53
HP:0012373	Abnormal eye physiology	1186	CLCN7	ORPHA:210110
HP:0012373	Abnormal eye physiology	29887	SNX10	ORPHA:667
HP:0012373	Abnormal eye physiology	8600	TNFSF11	ORPHA:667
HP:0012373	Abnormal eye physiology	55630	SLC39A4	ORPHA:37
HP:0012373	Abnormal eye physiology	256471	MFSD8	OMIM:616170
HP:0012373	Abnormal eye physiology	2581	GALC	ORPHA:206443
HP:0012373	Abnormal eye physiology	5515	PPP2CA	OMIM:618354
HP:0012373	Abnormal eye physiology	1436	CSF1R	OMIM:618476
HP:0012373	Abnormal eye physiology	10978	CLP1	ORPHA:411493
HP:0012373	Abnormal eye physiology	4081	MAB21L1	OMIM:618479
HP:0012373	Abnormal eye physiology	4081	MAB21L1	ORPHA:495875
HP:0012373	Abnormal eye physiology	6785	ELOVL4	OMIM:600110
HP:0012373	Abnormal eye physiology	55777	MBD5	OMIM:156200
HP:0012373	Abnormal eye physiology	57551	TAOK1	OMIM:619575
HP:0012373	Abnormal eye physiology	79955	PDZD7	OMIM:618003
HP:0012373	Abnormal eye physiology	444	ASPH	OMIM:601552
HP:0012373	Abnormal eye physiology	51102	MECR	OMIM:617282
HP:0012373	Abnormal eye physiology	84705	GTPBP3	OMIM:616198
HP:0012373	Abnormal eye physiology	84705	GTPBP3	ORPHA:444013
HP:0012373	Abnormal eye physiology	1974	EIF4A2	OMIM:620455
HP:0012373	Abnormal eye physiology	388531	RGS9BP	ORPHA:75374
HP:0012373	Abnormal eye physiology	8787	RGS9	ORPHA:75374
HP:0012373	Abnormal eye physiology	11340	EXOSC8	OMIM:616081
HP:0012373	Abnormal eye physiology	57187	THOC2	OMIM:300957
HP:0012373	Abnormal eye physiology	94005	PIGS	OMIM:618143
HP:0012373	Abnormal eye physiology	60684	TRAPPC11	ORPHA:869
HP:0012373	Abnormal eye physiology	8086	AAAS	ORPHA:869
HP:0012373	Abnormal eye physiology	84172	POLR1B	ORPHA:861
HP:0012373	Abnormal eye physiology	9533	POLR1C	ORPHA:861
HP:0012373	Abnormal eye physiology	51082	POLR1D	ORPHA:861
HP:0012373	Abnormal eye physiology	374354	NHLRC2	OMIM:618278
HP:0012373	Abnormal eye physiology	368	ABCC6	OMIM:264800
HP:0012373	Abnormal eye physiology	368	ABCC6	ORPHA:758
HP:0012373	Abnormal eye physiology	368	ABCC6	OMIM:177850
HP:0012373	Abnormal eye physiology	392255	GDF6	OMIM:613703
HP:0012373	Abnormal eye physiology	9573	GDF3	OMIM:613703
HP:0012373	Abnormal eye physiology	2799	GNS	OMIM:252940
HP:0012373	Abnormal eye physiology	3593	IL12B	ORPHA:3287
HP:0012373	Abnormal eye physiology	6945	MLX	ORPHA:3287
HP:0012373	Abnormal eye physiology	84233	TMEM126A	OMIM:612989
HP:0012373	Abnormal eye physiology	1678	TIMM8A	ORPHA:52368
HP:0012373	Abnormal eye physiology	1678	TIMM8A	OMIM:304700
HP:0012373	Abnormal eye physiology	84842	HPDL	OMIM:619026
HP:0012373	Abnormal eye physiology	27161	AGO2	OMIM:619149
HP:0012373	Abnormal eye physiology	4921	DDR2	OMIM:618175
HP:0012373	Abnormal eye physiology	221927	BRAT1	OMIM:618056
HP:0012373	Abnormal eye physiology	5167	ENPP1	ORPHA:758
HP:0012373	Abnormal eye physiology	26146	TRAF3IP1	ORPHA:3156
HP:0012373	Abnormal eye physiology	9657	IQCB1	ORPHA:3156
HP:0012373	Abnormal eye physiology	10806	SDCCAG8	ORPHA:3156
HP:0012373	Abnormal eye physiology	27130	INVS	ORPHA:3156
HP:0012373	Abnormal eye physiology	261734	NPHP4	ORPHA:3156
HP:0012373	Abnormal eye physiology	57728	WDR19	ORPHA:3156
HP:0012373	Abnormal eye physiology	57728	WDR19	OMIM:616307
HP:0012373	Abnormal eye physiology	57728	WDR19	OMIM:614378
HP:0012373	Abnormal eye physiology	27031	NPHP3	ORPHA:3156
HP:0012373	Abnormal eye physiology	22897	CEP164	ORPHA:3156
HP:0012373	Abnormal eye physiology	9915	ARNT2	ORPHA:3157
HP:0012373	Abnormal eye physiology	9898	UBAP2L	OMIM:620494
HP:0012373	Abnormal eye physiology	3476	IGBP1	OMIM:300472
HP:0012373	Abnormal eye physiology	27183	VPS4A	OMIM:619273
HP:0012373	Abnormal eye physiology	126326	GIPC3	OMIM:601869
HP:0012373	Abnormal eye physiology	57468	SLC12A5	ORPHA:293181
HP:0012373	Abnormal eye physiology	23236	PLCB1	ORPHA:293181
HP:0012373	Abnormal eye physiology	57582	KCNT1	ORPHA:293181
HP:0012373	Abnormal eye physiology	79751	SLC25A22	ORPHA:293181
HP:0012373	Abnormal eye physiology	2896	GRN	OMIM:614706
HP:0012373	Abnormal eye physiology	51218	GLRX5	ORPHA:401866
HP:0012373	Abnormal eye physiology	51218	GLRX5	OMIM:616859
HP:0012373	Abnormal eye physiology	170302	ARX	OMIM:300004
HP:0012373	Abnormal eye physiology	6392	SDHD	OMIM:619167
HP:0012373	Abnormal eye physiology	4552	MTRR	ORPHA:2169
HP:0012373	Abnormal eye physiology	4758	NEU1	ORPHA:812
HP:0012373	Abnormal eye physiology	63908	NAPB	OMIM:620033
HP:0012373	Abnormal eye physiology	1353	COX11	OMIM:620275
HP:0012373	Abnormal eye physiology	6452	SH3BP2	OMIM:118400
HP:0012373	Abnormal eye physiology	6452	SH3BP2	ORPHA:184
HP:0012373	Abnormal eye physiology	9739	SETD1A	OMIM:619056
HP:0012373	Abnormal eye physiology	7840	ALMS1	OMIM:203800
HP:0012373	Abnormal eye physiology	7274	TTPA	ORPHA:96
HP:0012373	Abnormal eye physiology	6999	TDO2	OMIM:600627
HP:0012373	Abnormal eye physiology	388551	CEACAM16	OMIM:614614
HP:0012373	Abnormal eye physiology	443	ASPA	OMIM:271900
HP:0012373	Abnormal eye physiology	330	BIRC3	ORPHA:52417
HP:0012373	Abnormal eye physiology	10892	MALT1	ORPHA:52417
HP:0012373	Abnormal eye physiology	3492	IGH	ORPHA:52417
HP:0012373	Abnormal eye physiology	8915	BCL10	ORPHA:52417
HP:0012373	Abnormal eye physiology	56006	SMG9	OMIM:616920
HP:0012373	Abnormal eye physiology	1593	CYP27A1	ORPHA:909
HP:0012373	Abnormal eye physiology	9255	AIMP1	OMIM:260600
HP:0012373	Abnormal eye physiology	285440	CYP4V2	ORPHA:41751
HP:0012373	Abnormal eye physiology	3035	HARS1	OMIM:614504
HP:0012373	Abnormal eye physiology	643226	GRXCR2	OMIM:615837
HP:0012373	Abnormal eye physiology	5591	PRKDC	OMIM:615966
HP:0012373	Abnormal eye physiology	51128	SAR1B	ORPHA:71
HP:0012373	Abnormal eye physiology	326	AIRE	ORPHA:3453
HP:0012373	Abnormal eye physiology	65217	PCDH15	OMIM:609533
HP:0012373	Abnormal eye physiology	760	CA2	OMIM:259730
HP:0012373	Abnormal eye physiology	8573	CASK	ORPHA:163937
HP:0012373	Abnormal eye physiology	55084	SOBP	OMIM:613671
HP:0012373	Abnormal eye physiology	23554	TSPAN12	OMIM:613310
HP:0012373	Abnormal eye physiology	283989	TSEN54	OMIM:277470
HP:0012373	Abnormal eye physiology	4942	OAT	OMIM:258870
HP:0012373	Abnormal eye physiology	28962	OSTM1	OMIM:259720
HP:0012373	Abnormal eye physiology	8943	AP3D1	ORPHA:54
HP:0012373	Abnormal eye physiology	8943	AP3D1	ORPHA:1000
HP:0012373	Abnormal eye physiology	4935	GPR143	ORPHA:54
HP:0012373	Abnormal eye physiology	83959	SLC4A11	ORPHA:1490
HP:0012373	Abnormal eye physiology	83959	SLC4A11	OMIM:613268
HP:0012373	Abnormal eye physiology	80207	OPA3	OMIM:258501
HP:0012373	Abnormal eye physiology	80207	OPA3	ORPHA:67036
HP:0012373	Abnormal eye physiology	80207	OPA3	ORPHA:67047
HP:0012373	Abnormal eye physiology	10019	SH2B3	ORPHA:3318
HP:0012373	Abnormal eye physiology	811	CALR	ORPHA:3318
HP:0012373	Abnormal eye physiology	4352	MPL	ORPHA:3318
HP:0012373	Abnormal eye physiology	54790	TET2	ORPHA:3318
HP:0012373	Abnormal eye physiology	9230	RAB11B	OMIM:617807
HP:0012373	Abnormal eye physiology	1121	CHM	OMIM:303100
HP:0012373	Abnormal eye physiology	1121	CHM	ORPHA:180
HP:0012373	Abnormal eye physiology	2335	FN1	ORPHA:93315
HP:0012373	Abnormal eye physiology	4047	LSS	ORPHA:1366
HP:0012373	Abnormal eye physiology	54585	LZTFL1	OMIM:615994
HP:0012373	Abnormal eye physiology	406960	MIR184	OMIM:614303
HP:0012373	Abnormal eye physiology	23600	AMACR	OMIM:614307
HP:0012373	Abnormal eye physiology	22845	DOLK	ORPHA:91131
HP:0012373	Abnormal eye physiology	9131	AIFM1	ORPHA:83629
HP:0012373	Abnormal eye physiology	10229	COQ7	OMIM:616733
HP:0012373	Abnormal eye physiology	5076	PAX2	ORPHA:1475
HP:0012373	Abnormal eye physiology	10320	IKZF1	ORPHA:36426
HP:0012373	Abnormal eye physiology	2068	ERCC2	ORPHA:1466
HP:0012373	Abnormal eye physiology	2073	ERCC5	ORPHA:1466
HP:0012373	Abnormal eye physiology	91137	SLC25A46	OMIM:616505
HP:0012373	Abnormal eye physiology	80746	TSEN2	OMIM:612389
HP:0012373	Abnormal eye physiology	51151	SLC45A2	OMIM:606574
HP:0012373	Abnormal eye physiology	79042	TSEN34	OMIM:612390
HP:0012373	Abnormal eye physiology	55644	OSGEP	OMIM:617729
HP:0012373	Abnormal eye physiology	57572	DOCK6	OMIM:614219
HP:0012373	Abnormal eye physiology	64840	PORCN	OMIM:305600
HP:0012373	Abnormal eye physiology	9842	PLEKHM1	ORPHA:210110
HP:0012373	Abnormal eye physiology	112858	TP53RK	OMIM:617730
HP:0012373	Abnormal eye physiology	4043	LRPAP1	OMIM:615431
HP:0012373	Abnormal eye physiology	51501	HIKESHI	OMIM:616881
HP:0012373	Abnormal eye physiology	56270	WDR45B	OMIM:617977
HP:0012373	Abnormal eye physiology	6925	TCF4	OMIM:613267
HP:0012373	Abnormal eye physiology	3931	LCAT	ORPHA:79292
HP:0012373	Abnormal eye physiology	54676	GTPBP2	OMIM:617988
HP:0012373	Abnormal eye physiology	5422	POLA1	OMIM:301220
HP:0012373	Abnormal eye physiology	3920	LAMP2	OMIM:300257
HP:0012373	Abnormal eye physiology	119559	SFXN4	OMIM:615578
HP:0012373	Abnormal eye physiology	2990	GUSB	OMIM:253220
HP:0012373	Abnormal eye physiology	8777	MPDZ	OMIM:615219
HP:0012373	Abnormal eye physiology	25974	MMACHC	ORPHA:79282
HP:0012373	Abnormal eye physiology	25974	MMACHC	OMIM:277400
HP:0012373	Abnormal eye physiology	85378	TUBGCP6	ORPHA:2518
HP:0012373	Abnormal eye physiology	85378	TUBGCP6	OMIM:251270
HP:0012373	Abnormal eye physiology	51294	PCDH12	OMIM:251280
HP:0012373	Abnormal eye physiology	5430	POLR2A	OMIM:618603
HP:0012373	Abnormal eye physiology	79587	CARS2	OMIM:616672
HP:0012373	Abnormal eye physiology	22861	NLRP1	OMIM:615225
HP:0012373	Abnormal eye physiology	64221	ROBO3	ORPHA:2744
HP:0012373	Abnormal eye physiology	406932	MIR140	OMIM:618618
HP:0012373	Abnormal eye physiology	55753	OGDHL	OMIM:619701
HP:0012373	Abnormal eye physiology	5052	PRDX1	OMIM:277400
HP:0012373	Abnormal eye physiology	3106	HLA-B	ORPHA:397
HP:0012373	Abnormal eye physiology	8974	P4HA2	ORPHA:397
HP:0012373	Abnormal eye physiology	2673	GFPT1	OMIM:608931
HP:0012373	Abnormal eye physiology	2673	GFPT1	OMIM:610542
HP:0012373	Abnormal eye physiology	2673	GFPT1	ORPHA:353327
HP:0012373	Abnormal eye physiology	26235	FBXL4	OMIM:615471
HP:0012373	Abnormal eye physiology	8216	LZTR1	OMIM:616564
HP:0012373	Abnormal eye physiology	8216	LZTR1	OMIM:605275
HP:0012373	Abnormal eye physiology	8216	LZTR1	ORPHA:648
HP:0012373	Abnormal eye physiology	1024	CDK8	OMIM:618748
HP:0012373	Abnormal eye physiology	7021	TFAP2B	OMIM:169100
HP:0012373	Abnormal eye physiology	7021	TFAP2B	ORPHA:46627
HP:0012373	Abnormal eye physiology	84334	COA8	ORPHA:436271
HP:0012373	Abnormal eye physiology	2261	FGFR3	ORPHA:53271
HP:0012373	Abnormal eye physiology	2261	FGFR3	ORPHA:794
HP:0012373	Abnormal eye physiology	2261	FGFR3	ORPHA:93262
HP:0012373	Abnormal eye physiology	2261	FGFR3	ORPHA:2363
HP:0012373	Abnormal eye physiology	2261	FGFR3	OMIM:602849
HP:0012373	Abnormal eye physiology	91147	TMEM67	OMIM:602152
HP:0012373	Abnormal eye physiology	91147	TMEM67	OMIM:216360
HP:0012373	Abnormal eye physiology	91147	TMEM67	ORPHA:1454
HP:0012373	Abnormal eye physiology	91147	TMEM67	ORPHA:475
HP:0012373	Abnormal eye physiology	91147	TMEM67	ORPHA:140976
HP:0012373	Abnormal eye physiology	9578	CDC42BPB	OMIM:619841
HP:0012373	Abnormal eye physiology	65993	MRPS34	OMIM:617664
HP:0012373	Abnormal eye physiology	6616	SNAP25	OMIM:616330
HP:0012373	Abnormal eye physiology	6616	SNAP25	ORPHA:98914
HP:0012373	Abnormal eye physiology	10528	NOP56	OMIM:614153
HP:0012373	Abnormal eye physiology	10528	NOP56	ORPHA:276198
HP:0012373	Abnormal eye physiology	23322	RPGRIP1L	ORPHA:220497
HP:0012373	Abnormal eye physiology	23322	RPGRIP1L	ORPHA:1454
HP:0012373	Abnormal eye physiology	23322	RPGRIP1L	OMIM:619113
HP:0012373	Abnormal eye physiology	23322	RPGRIP1L	OMIM:611560
HP:0012373	Abnormal eye physiology	4867	NPHP1	ORPHA:220497
HP:0012373	Abnormal eye physiology	65062	TMEM237	ORPHA:220497
HP:0012373	Abnormal eye physiology	65062	TMEM237	ORPHA:2318
HP:0012373	Abnormal eye physiology	65062	TMEM237	ORPHA:475
HP:0012373	Abnormal eye physiology	65062	TMEM237	OMIM:614424
HP:0012373	Abnormal eye physiology	64072	CDH23	ORPHA:2965
HP:0012373	Abnormal eye physiology	64072	CDH23	ORPHA:91347
HP:0012373	Abnormal eye physiology	9049	AIP	ORPHA:2965
HP:0012373	Abnormal eye physiology	5184	PEPD	OMIM:170100
HP:0012373	Abnormal eye physiology	55690	PACS1	OMIM:615009
HP:0012373	Abnormal eye physiology	56623	INPP5E	ORPHA:220493
HP:0012373	Abnormal eye physiology	56623	INPP5E	OMIM:213300
HP:0012373	Abnormal eye physiology	56623	INPP5E	ORPHA:1454
HP:0012373	Abnormal eye physiology	56623	INPP5E	ORPHA:475
HP:0012373	Abnormal eye physiology	153241	CEP120	ORPHA:220493
HP:0012373	Abnormal eye physiology	153241	CEP120	ORPHA:475
HP:0012373	Abnormal eye physiology	54903	MKS1	ORPHA:220493
HP:0012373	Abnormal eye physiology	54903	MKS1	ORPHA:475
HP:0012373	Abnormal eye physiology	54903	MKS1	OMIM:249000
HP:0012373	Abnormal eye physiology	95681	CEP41	ORPHA:220493
HP:0012373	Abnormal eye physiology	95681	CEP41	ORPHA:475
HP:0012373	Abnormal eye physiology	3149	HMGB3	OMIM:300915
HP:0012373	Abnormal eye physiology	9968	MED12	ORPHA:2728
HP:0012373	Abnormal eye physiology	9968	MED12	OMIM:309520
HP:0012373	Abnormal eye physiology	9968	MED12	OMIM:300895
HP:0012373	Abnormal eye physiology	24142	NAA80	OMIM:620830
HP:0012373	Abnormal eye physiology	7054	TH	OMIM:605407
HP:0012373	Abnormal eye physiology	7054	TH	ORPHA:101150
HP:0012373	Abnormal eye physiology	3190	HNRNPK	OMIM:616580
HP:0012373	Abnormal eye physiology	3190	HNRNPK	ORPHA:453504
HP:0012373	Abnormal eye physiology	3190	HNRNPK	ORPHA:352665
HP:0012373	Abnormal eye physiology	317662	FAM149B1	OMIM:618763
HP:0012373	Abnormal eye physiology	7994	KAT6A	ORPHA:457193
HP:0012373	Abnormal eye physiology	7994	KAT6A	OMIM:616268
HP:0012373	Abnormal eye physiology	81857	MED25	ORPHA:464738
HP:0012373	Abnormal eye physiology	81857	MED25	OMIM:616449
HP:0012373	Abnormal eye physiology	10939	AFG3L2	ORPHA:313772
HP:0012373	Abnormal eye physiology	10939	AFG3L2	ORPHA:101109
HP:0012373	Abnormal eye physiology	10939	AFG3L2	OMIM:610246
HP:0012373	Abnormal eye physiology	10939	AFG3L2	OMIM:614487
HP:0012373	Abnormal eye physiology	4620	MYH2	OMIM:605637
HP:0012373	Abnormal eye physiology	5159	PDGFRB	OMIM:616592
HP:0012373	Abnormal eye physiology	10935	PRDX3	OMIM:619862
HP:0012373	Abnormal eye physiology	5528	PPP2R5D	OMIM:616355
HP:0012373	Abnormal eye physiology	80776	B9D2	OMIM:614175
HP:0012373	Abnormal eye physiology	80776	B9D2	ORPHA:475
HP:0012373	Abnormal eye physiology	55768	NGLY1	OMIM:615273
HP:0012373	Abnormal eye physiology	23126	POGZ	OMIM:616364
HP:0012373	Abnormal eye physiology	57680	CHD8	OMIM:615032
HP:0012373	Abnormal eye physiology	9091	PIGQ	OMIM:618548
HP:0012373	Abnormal eye physiology	2736	GLI2	OMIM:610829
HP:0012373	Abnormal eye physiology	54828	BCAS3	OMIM:619641
HP:0012373	Abnormal eye physiology	7358	UGDH	OMIM:618792
HP:0012373	Abnormal eye physiology	163175	LGI4	OMIM:617468
HP:0012373	Abnormal eye physiology	200424	TET3	OMIM:618798
HP:0012373	Abnormal eye physiology	10667	FARS2	ORPHA:466722
HP:0012373	Abnormal eye physiology	3423	IDS	OMIM:309900
HP:0012373	Abnormal eye physiology	3798	KIF5A	OMIM:617235
HP:0012373	Abnormal eye physiology	6572	SLC18A3	OMIM:617239
HP:0012373	Abnormal eye physiology	6572	SLC18A3	ORPHA:98914
HP:0012373	Abnormal eye physiology	6240	RRM1	OMIM:620647
HP:0012373	Abnormal eye physiology	6578	SLCO2A1	OMIM:167100
HP:0012373	Abnormal eye physiology	6578	SLCO2A1	ORPHA:2796
HP:0012373	Abnormal eye physiology	2303	FOXC2	ORPHA:33001
HP:0012373	Abnormal eye physiology	2303	FOXC2	OMIM:153400
HP:0012373	Abnormal eye physiology	84295	PHF6	ORPHA:127
HP:0012373	Abnormal eye physiology	84295	PHF6	OMIM:301900
HP:0012373	Abnormal eye physiology	6138	RPL15	ORPHA:124
HP:0012373	Abnormal eye physiology	6224	RPS20	ORPHA:124
HP:0012373	Abnormal eye physiology	6165	RPL35A	ORPHA:124
HP:0012373	Abnormal eye physiology	6132	RPL8	ORPHA:124
HP:0012373	Abnormal eye physiology	6223	RPS19	ORPHA:124
HP:0012373	Abnormal eye physiology	6232	RPS27	ORPHA:124
HP:0012373	Abnormal eye physiology	55027	HEATR3	ORPHA:124
HP:0012373	Abnormal eye physiology	6160	RPL31	ORPHA:124
HP:0012373	Abnormal eye physiology	6201	RPS7	ORPHA:124
HP:0012373	Abnormal eye physiology	6155	RPL27	ORPHA:124
HP:0012373	Abnormal eye physiology	6234	RPS28	ORPHA:124
HP:0012373	Abnormal eye physiology	6135	RPL11	ORPHA:124
HP:0012373	Abnormal eye physiology	6229	RPS24	ORPHA:124
HP:0012373	Abnormal eye physiology	6125	RPL5	ORPHA:124
HP:0012373	Abnormal eye physiology	6204	RPS10	ORPHA:124
HP:0012373	Abnormal eye physiology	2623	GATA1	ORPHA:124
HP:0012373	Abnormal eye physiology	6133	RPL9	ORPHA:124
HP:0012373	Abnormal eye physiology	6231	RPS26	ORPHA:124
HP:0012373	Abnormal eye physiology	11224	RPL35	ORPHA:124
HP:0012373	Abnormal eye physiology	6218	RPS17	ORPHA:124
HP:0012373	Abnormal eye physiology	6154	RPL26	ORPHA:124
HP:0012373	Abnormal eye physiology	6210	RPS15A	ORPHA:124
HP:0012373	Abnormal eye physiology	90121	TSR2	ORPHA:124
HP:0012373	Abnormal eye physiology	6141	RPL18	ORPHA:124
HP:0012373	Abnormal eye physiology	6235	RPS29	ORPHA:124
HP:0012373	Abnormal eye physiology	51816	ADA2	ORPHA:124
HP:0012373	Abnormal eye physiology	257	ALX3	ORPHA:391474
HP:0012373	Abnormal eye physiology	257	ALX3	OMIM:136760
HP:0012373	Abnormal eye physiology	10533	ATG7	OMIM:619422
HP:0012373	Abnormal eye physiology	4633	MYL2	OMIM:619424
HP:0012373	Abnormal eye physiology	9427	ECEL1	OMIM:615065
HP:0012373	Abnormal eye physiology	84188	FAR1	OMIM:616154
HP:0012373	Abnormal eye physiology	84188	FAR1	ORPHA:438178
HP:0012373	Abnormal eye physiology	7046	TGFBR1	OMIM:609192
HP:0012373	Abnormal eye physiology	5081	PAX7	OMIM:618578
HP:0012373	Abnormal eye physiology	7273	TTN	OMIM:611705
HP:0012373	Abnormal eye physiology	5813	PURA	ORPHA:314655
HP:0012373	Abnormal eye physiology	7291	TWIST1	ORPHA:794
HP:0012373	Abnormal eye physiology	7291	TWIST1	OMIM:101400
HP:0012373	Abnormal eye physiology	3479	IGF1	ORPHA:73272
HP:0012373	Abnormal eye physiology	3479	IGF1	OMIM:608747
HP:0012373	Abnormal eye physiology	9361	LONP1	OMIM:600373
HP:0012373	Abnormal eye physiology	9361	LONP1	ORPHA:1458
HP:0012373	Abnormal eye physiology	10765	KDM5B	OMIM:618109
HP:0012373	Abnormal eye physiology	79912	PYROXD1	OMIM:617258
HP:0012373	Abnormal eye physiology	2671	GFER	ORPHA:330054
HP:0012373	Abnormal eye physiology	90459	ERI1	OMIM:620662
HP:0012373	Abnormal eye physiology	27125	AFF4	ORPHA:444077
HP:0012373	Abnormal eye physiology	7084	TK2	ORPHA:254886
HP:0012373	Abnormal eye physiology	7084	TK2	OMIM:617069
HP:0012373	Abnormal eye physiology	92667	MGME1	OMIM:615084
HP:0012373	Abnormal eye physiology	92667	MGME1	ORPHA:352447
HP:0012373	Abnormal eye physiology	57520	HECW2	OMIM:617268
HP:0012373	Abnormal eye physiology	5980	REV3L	ORPHA:570
HP:0012373	Abnormal eye physiology	23129	PLXND1	ORPHA:570
HP:0012373	Abnormal eye physiology	22930	RAB3GAP1	OMIM:600118
HP:0012373	Abnormal eye physiology	57007	ACKR3	OMIM:619215
HP:0012373	Abnormal eye physiology	1621	DBH	OMIM:223360
HP:0012373	Abnormal eye physiology	6601	SMARCC2	OMIM:618362
HP:0012373	Abnormal eye physiology	6601	SMARCC2	ORPHA:1465
HP:0012373	Abnormal eye physiology	5805	PTS	ORPHA:13
HP:0012373	Abnormal eye physiology	4547	MTTP	ORPHA:14
HP:0012373	Abnormal eye physiology	2064	ERBB2	OMIM:619465
HP:0012373	Abnormal eye physiology	7317	UBA1	OMIM:301830
HP:0012373	Abnormal eye physiology	8802	SUCLG1	ORPHA:17
HP:0012373	Abnormal eye physiology	2065	ERBB3	OMIM:243180
HP:0012373	Abnormal eye physiology	79736	TEFM	OMIM:620451
HP:0012373	Abnormal eye physiology	10526	IPO8	OMIM:619472
HP:0012373	Abnormal eye physiology	2892	GRIA3	ORPHA:364028
HP:0012373	Abnormal eye physiology	100996717	NOTCH2NLC	OMIM:619473
HP:0012373	Abnormal eye physiology	4762	NEUROG1	OMIM:620469
HP:0012373	Abnormal eye physiology	3248	HPGD	OMIM:259100
HP:0012373	Abnormal eye physiology	3248	HPGD	ORPHA:2796
HP:0012373	Abnormal eye physiology	63895	PIEZO2	OMIM:108145
HP:0012373	Abnormal eye physiology	63895	PIEZO2	OMIM:114300
HP:0012373	Abnormal eye physiology	63895	PIEZO2	ORPHA:1154
HP:0012373	Abnormal eye physiology	63895	PIEZO2	OMIM:248700
HP:0012373	Abnormal eye physiology	63895	PIEZO2	ORPHA:2461
HP:0012373	Abnormal eye physiology	5781	PTPN11	ORPHA:500
HP:0012373	Abnormal eye physiology	5781	PTPN11	ORPHA:648
HP:0012373	Abnormal eye physiology	5781	PTPN11	OMIM:151100
HP:0012373	Abnormal eye physiology	5781	PTPN11	OMIM:163950
HP:0012373	Abnormal eye physiology	5894	RAF1	ORPHA:500
HP:0012373	Abnormal eye physiology	5894	RAF1	ORPHA:648
HP:0012373	Abnormal eye physiology	5894	RAF1	OMIM:611553
HP:0012373	Abnormal eye physiology	3181	HNRNPA2B1	OMIM:620460
HP:0012373	Abnormal eye physiology	51360	MBTPS2	OMIM:308205
HP:0012373	Abnormal eye physiology	1457	CSNK2A1	OMIM:617062
HP:0012373	Abnormal eye physiology	7204	TRIO	OMIM:617061
HP:0012373	Abnormal eye physiology	374879	ZNF699	OMIM:619488
HP:0012373	Abnormal eye physiology	4617	MYF5	OMIM:618155
HP:0012373	Abnormal eye physiology	7169	TPM2	OMIM:108120
HP:0012373	Abnormal eye physiology	7169	TPM2	ORPHA:171436
HP:0012373	Abnormal eye physiology	7169	TPM2	ORPHA:171439
HP:0012373	Abnormal eye physiology	80267	EDEM3	OMIM:619493
HP:0012373	Abnormal eye physiology	1716	DGUOK	OMIM:617070
HP:0012373	Abnormal eye physiology	84231	TRAF7	OMIM:618164
HP:0012373	Abnormal eye physiology	284058	KANSL1	OMIM:610443
HP:0012373	Abnormal eye physiology	284058	KANSL1	ORPHA:363958
HP:0012373	Abnormal eye physiology	284058	KANSL1	ORPHA:363965
HP:0012373	Abnormal eye physiology	9997	SCO2	ORPHA:521411
HP:0012373	Abnormal eye physiology	9997	SCO2	OMIM:604377
HP:0012373	Abnormal eye physiology	54936	ADPRS	OMIM:618170
HP:0012373	Abnormal eye physiology	50964	SOST	ORPHA:3152
HP:0012373	Abnormal eye physiology	7042	TGFB2	OMIM:614816
HP:0012373	Abnormal eye physiology	8085	KMT2D	OMIM:147920
HP:0012373	Abnormal eye physiology	8085	KMT2D	ORPHA:2322
HP:0012373	Abnormal eye physiology	7403	KDM6A	OMIM:147920
HP:0012373	Abnormal eye physiology	7403	KDM6A	ORPHA:2322
HP:0012373	Abnormal eye physiology	6535	SLC6A8	OMIM:300352
HP:0012373	Abnormal eye physiology	6535	SLC6A8	ORPHA:52503
HP:0012373	Abnormal eye physiology	6309	SC5D	ORPHA:46059
HP:0012373	Abnormal eye physiology	6309	SC5D	OMIM:607330
HP:0012373	Abnormal eye physiology	26128	KIFBP	OMIM:609460
HP:0012373	Abnormal eye physiology	26128	KIFBP	ORPHA:66629
HP:0012373	Abnormal eye physiology	161742	SPRED1	OMIM:611431
HP:0012373	Abnormal eye physiology	2521	FUS	ORPHA:275872
HP:0012373	Abnormal eye physiology	8878	SQSTM1	ORPHA:275872
HP:0012373	Abnormal eye physiology	7415	VCP	ORPHA:275872
HP:0012373	Abnormal eye physiology	23435	TARDBP	ORPHA:275872
HP:0012373	Abnormal eye physiology	29110	TBK1	ORPHA:275872
HP:0012373	Abnormal eye physiology	400916	CHCHD10	ORPHA:275872
HP:0012373	Abnormal eye physiology	400916	CHCHD10	OMIM:615911
HP:0012373	Abnormal eye physiology	9839	ZEB2	OMIM:235730
HP:0012373	Abnormal eye physiology	9839	ZEB2	ORPHA:261552
HP:0012373	Abnormal eye physiology	9839	ZEB2	ORPHA:261537
HP:0012373	Abnormal eye physiology	1278	COL1A2	ORPHA:230851
HP:0012373	Abnormal eye physiology	89910	UBE3B	OMIM:244450
HP:0012373	Abnormal eye physiology	4884	NPTX1	OMIM:620158
HP:0012373	Abnormal eye physiology	324	APC	ORPHA:3258
HP:0012373	Abnormal eye physiology	6261	RYR1	OMIM:255320
HP:0012373	Abnormal eye physiology	6261	RYR1	ORPHA:98905
HP:0012373	Abnormal eye physiology	6261	RYR1	OMIM:619542
HP:0012373	Abnormal eye physiology	6261	RYR1	ORPHA:424107
HP:0012373	Abnormal eye physiology	6261	RYR1	ORPHA:169189
HP:0012373	Abnormal eye physiology	55157	DARS2	ORPHA:137898
HP:0012373	Abnormal eye physiology	93627	TBCK	OMIM:616900
HP:0012373	Abnormal eye physiology	29967	LRP12	OMIM:164310
HP:0012373	Abnormal eye physiology	23116	TOGARAM1	OMIM:619185
HP:0012373	Abnormal eye physiology	23116	TOGARAM1	ORPHA:475
HP:0012373	Abnormal eye physiology	10367	MICU1	ORPHA:401768
HP:0012373	Abnormal eye physiology	10367	MICU1	OMIM:615673
HP:0012373	Abnormal eye physiology	7156	TOP3A	OMIM:618098
HP:0012373	Abnormal eye physiology	6885	MAP3K7	OMIM:157800
HP:0012373	Abnormal eye physiology	55148	UBR7	OMIM:619189
HP:0012373	Abnormal eye physiology	7170	TPM3	OMIM:255310
HP:0012373	Abnormal eye physiology	7170	TPM3	ORPHA:171439
HP:0012373	Abnormal eye physiology	7020	TFAP2A	ORPHA:1297
HP:0012373	Abnormal eye physiology	7020	TFAP2A	OMIM:113620
HP:0012373	Abnormal eye physiology	1906	EDN1	ORPHA:137888
HP:0012373	Abnormal eye physiology	5332	PLCB4	ORPHA:137888
HP:0012373	Abnormal eye physiology	5332	PLCB4	OMIM:614669
HP:0012373	Abnormal eye physiology	2773	GNAI3	ORPHA:137888
HP:0012373	Abnormal eye physiology	53834	FGFRL1	OMIM:194190
HP:0012373	Abnormal eye physiology	9487	PIGL	ORPHA:3474
HP:0012373	Abnormal eye physiology	9487	PIGL	OMIM:280000
HP:0012373	Abnormal eye physiology	113278	SLC52A3	OMIM:211530
HP:0012373	Abnormal eye physiology	113278	SLC52A3	OMIM:211500
HP:0012373	Abnormal eye physiology	27245	AHDC1	OMIM:615829
HP:0012373	Abnormal eye physiology	10801	SEPTIN9	OMIM:162100
HP:0012373	Abnormal eye physiology	26053	AUTS2	OMIM:615834
HP:0012373	Abnormal eye physiology	90624	LYRM7	OMIM:615838
HP:0012373	Abnormal eye physiology	54499	TMCO1	OMIM:213980
HP:0012373	Abnormal eye physiology	80704	SLC19A3	OMIM:607483
HP:0012373	Abnormal eye physiology	64419	MTMR14	OMIM:160150
HP:0012373	Abnormal eye physiology	64419	MTMR14	ORPHA:169189
HP:0012373	Abnormal eye physiology	1785	DNM2	OMIM:160150
HP:0012373	Abnormal eye physiology	1785	DNM2	ORPHA:169189
HP:0012373	Abnormal eye physiology	1798	DPAGT1	OMIM:614750
HP:0012373	Abnormal eye physiology	1798	DPAGT1	ORPHA:353327
HP:0012373	Abnormal eye physiology	3708	ITPR1	OMIM:117360
HP:0012373	Abnormal eye physiology	3708	ITPR1	OMIM:206700
HP:0012373	Abnormal eye physiology	2255	FGF10	ORPHA:2363
HP:0012373	Abnormal eye physiology	6605	SMARCE1	OMIM:616938
HP:0012373	Abnormal eye physiology	6605	SMARCE1	ORPHA:1465
HP:0012373	Abnormal eye physiology	8106	PABPN1	OMIM:164300
HP:0012373	Abnormal eye physiology	8106	PABPN1	ORPHA:270
HP:0012373	Abnormal eye physiology	6949	TCOF1	OMIM:154500
HP:0012373	Abnormal eye physiology	546	ATRX	OMIM:309580
HP:0012373	Abnormal eye physiology	6611	SMS	OMIM:309583
HP:0012373	Abnormal eye physiology	2260	FGFR1	ORPHA:2117
HP:0012373	Abnormal eye physiology	2260	FGFR1	ORPHA:478
HP:0012373	Abnormal eye physiology	3098	HK1	OMIM:605285
HP:0012373	Abnormal eye physiology	55023	PHIP	ORPHA:589905
HP:0012373	Abnormal eye physiology	29123	ANKRD11	OMIM:148050
HP:0012373	Abnormal eye physiology	6664	SOX11	OMIM:615866
HP:0012373	Abnormal eye physiology	6664	SOX11	ORPHA:1465
HP:0012373	Abnormal eye physiology	4089	SMAD4	ORPHA:2588
HP:0012373	Abnormal eye physiology	10075	HUWE1	OMIM:309590
HP:0012373	Abnormal eye physiology	2245	FGD1	OMIM:305400
HP:0012373	Abnormal eye physiology	2245	FGD1	ORPHA:915
HP:0012373	Abnormal eye physiology	23394	ADNP	OMIM:615873
HP:0012373	Abnormal eye physiology	80184	CEP290	OMIM:610188
HP:0012373	Abnormal eye physiology	80184	CEP290	ORPHA:2318
HP:0012373	Abnormal eye physiology	79848	CSPP1	OMIM:615636
HP:0012373	Abnormal eye physiology	79848	CSPP1	ORPHA:475
HP:0012373	Abnormal eye physiology	55605	KIF21A	ORPHA:45358
HP:0012373	Abnormal eye physiology	7846	TUBA1A	ORPHA:45358
HP:0012373	Abnormal eye physiology	401	PHOX2A	ORPHA:45358
HP:0012373	Abnormal eye physiology	84570	COL25A1	ORPHA:45358
HP:0012373	Abnormal eye physiology	84570	COL25A1	OMIM:616219
HP:0012373	Abnormal eye physiology	89970	RSPRY1	OMIM:616723
HP:0012373	Abnormal eye physiology	4747	NEFL	OMIM:607684
HP:0012373	Abnormal eye physiology	23028	KDM1A	OMIM:616728
HP:0012373	Abnormal eye physiology	4854	NOTCH3	OMIM:130720
HP:0012373	Abnormal eye physiology	4854	NOTCH3	ORPHA:2789
HP:0012373	Abnormal eye physiology	998	CDC42	OMIM:616737
HP:0012373	Abnormal eye physiology	998	CDC42	ORPHA:487796
HP:0012373	Abnormal eye physiology	10982	MAPRE2	OMIM:616734
HP:0012373	Abnormal eye physiology	6597	SMARCA4	ORPHA:1465
HP:0012373	Abnormal eye physiology	6597	SMARCA4	OMIM:614609
HP:0012373	Abnormal eye physiology	6598	SMARCB1	ORPHA:1465
HP:0012373	Abnormal eye physiology	6598	SMARCB1	OMIM:614608
HP:0012373	Abnormal eye physiology	6659	SOX4	ORPHA:1465
HP:0012373	Abnormal eye physiology	8289	ARID1A	ORPHA:1465
HP:0012373	Abnormal eye physiology	8289	ARID1A	OMIM:614607
HP:0012373	Abnormal eye physiology	5977	DPF2	ORPHA:1465
HP:0012373	Abnormal eye physiology	6602	SMARCD1	ORPHA:1465
HP:0012373	Abnormal eye physiology	196528	ARID2	ORPHA:1465
HP:0012373	Abnormal eye physiology	4358	MPV17	OMIM:256810
HP:0012373	Abnormal eye physiology	10616	RBCK1	OMIM:615895
HP:0012373	Abnormal eye physiology	2911	GRM1	ORPHA:324262
HP:0012373	Abnormal eye physiology	2911	GRM1	OMIM:614831
HP:0012373	Abnormal eye physiology	79583	TMEM231	ORPHA:2318
HP:0012373	Abnormal eye physiology	51524	TMEM138	ORPHA:2318
HP:0012373	Abnormal eye physiology	23090	ZNF423	ORPHA:2318
HP:0012373	Abnormal eye physiology	51259	TMEM216	ORPHA:2318
HP:0012373	Abnormal eye physiology	7050	TGIF1	OMIM:142946
HP:0012373	Abnormal eye physiology	9241	NOG	OMIM:186500
HP:0012373	Abnormal eye physiology	2313	FLI1	ORPHA:2308
HP:0012373	Abnormal eye physiology	60	ACTB	OMIM:243310
HP:0012373	Abnormal eye physiology	60	ACTB	ORPHA:2995
HP:0012373	Abnormal eye physiology	10755	GIPC1	OMIM:618940
HP:0012373	Abnormal eye physiology	71	ACTG1	OMIM:614583
HP:0012373	Abnormal eye physiology	71	ACTG1	ORPHA:2995
HP:0012373	Abnormal eye physiology	1103	CHAT	OMIM:254210
HP:0012373	Abnormal eye physiology	1103	CHAT	ORPHA:98914
HP:0012373	Abnormal eye physiology	1861	TOR1A	OMIM:618947
HP:0012373	Abnormal eye physiology	1890	TYMP	OMIM:603041
HP:0012373	Abnormal eye physiology	1890	TYMP	ORPHA:298
HP:0012373	Abnormal eye physiology	6697	SPR	ORPHA:70594
HP:0012373	Abnormal eye physiology	114928	GPRASP2	OMIM:301018
HP:0012373	Abnormal eye physiology	28957	MRPS28	OMIM:618958
HP:0012373	Abnormal eye physiology	2625	GATA3	OMIM:146255
HP:0012373	Abnormal eye physiology	60482	SLC5A7	ORPHA:98914
HP:0012373	Abnormal eye physiology	60482	SLC5A7	OMIM:617143
HP:0012373	Abnormal eye physiology	4649	MYO9A	ORPHA:98914
HP:0012373	Abnormal eye physiology	4649	MYO9A	OMIM:618198
HP:0012373	Abnormal eye physiology	6576	SLC25A1	ORPHA:98914
HP:0012373	Abnormal eye physiology	6576	SLC25A1	OMIM:618197
HP:0012373	Abnormal eye physiology	127833	SYT2	ORPHA:98914
HP:0012373	Abnormal eye physiology	8292	COLQ	ORPHA:98915
HP:0012373	Abnormal eye physiology	8292	COLQ	OMIM:603034
HP:0012373	Abnormal eye physiology	3913	LAMB2	ORPHA:98915
HP:0012373	Abnormal eye physiology	617	BCS1L	OMIM:124000
HP:0012373	Abnormal eye physiology	23247	KATNIP	OMIM:616784
HP:0012373	Abnormal eye physiology	23247	KATNIP	ORPHA:475
HP:0012373	Abnormal eye physiology	1537	CYC1	OMIM:615453
HP:0012373	Abnormal eye physiology	26503	SLC17A5	OMIM:269920
HP:0012373	Abnormal eye physiology	51099	ABHD5	ORPHA:98907
HP:0012373	Abnormal eye physiology	4724	NDUFS4	OMIM:252010
HP:0012373	Abnormal eye physiology	4724	NDUFS4	ORPHA:2609
HP:0012373	Abnormal eye physiology	84700	MYO18B	OMIM:616549
HP:0012373	Abnormal eye physiology	4621	MYH3	ORPHA:2990
HP:0012373	Abnormal eye physiology	4621	MYH3	OMIM:618436
HP:0012373	Abnormal eye physiology	4621	MYH3	OMIM:178110
HP:0012373	Abnormal eye physiology	4621	MYH3	OMIM:193700
HP:0012373	Abnormal eye physiology	4621	MYH3	ORPHA:2053
HP:0012373	Abnormal eye physiology	1146	CHRNG	ORPHA:2990
HP:0012373	Abnormal eye physiology	1146	CHRNG	OMIM:265000
HP:0012373	Abnormal eye physiology	9939	RBM8A	OMIM:274000
HP:0012373	Abnormal eye physiology	5290	PIK3CA	OMIM:606773
HP:0012373	Abnormal eye physiology	6389	SDHA	OMIM:252011
HP:0012373	Abnormal eye physiology	57647	DHX37	OMIM:618731
HP:0012373	Abnormal eye physiology	10736	SIX2	ORPHA:488437
HP:0012373	Abnormal eye physiology	7545	ZIC1	OMIM:618736
HP:0012373	Abnormal eye physiology	7545	ZIC1	OMIM:616602
HP:0012373	Abnormal eye physiology	4281	MID1	ORPHA:2745
HP:0012373	Abnormal eye physiology	4654	MYOD1	OMIM:618975
HP:0012373	Abnormal eye physiology	6655	SOS2	OMIM:616559
HP:0012373	Abnormal eye physiology	6655	SOS2	ORPHA:648
HP:0012373	Abnormal eye physiology	246329	STAC3	OMIM:255995
HP:0012373	Abnormal eye physiology	8036	SHOC2	OMIM:607721
HP:0012373	Abnormal eye physiology	4287	ATXN3	OMIM:109150
HP:0012373	Abnormal eye physiology	25915	NDUFAF3	ORPHA:2609
HP:0012373	Abnormal eye physiology	51103	NDUFAF1	ORPHA:2609
HP:0012373	Abnormal eye physiology	91942	NDUFAF2	ORPHA:2609
HP:0012373	Abnormal eye physiology	51300	TIMMDC1	ORPHA:2609
HP:0012373	Abnormal eye physiology	4716	NDUFB10	ORPHA:2609
HP:0012373	Abnormal eye physiology	4723	NDUFV1	ORPHA:2609
HP:0012373	Abnormal eye physiology	4723	NDUFV1	OMIM:618225
HP:0012373	Abnormal eye physiology	55572	FOXRED1	ORPHA:2609
HP:0012373	Abnormal eye physiology	284184	NDUFAF8	ORPHA:2609
HP:0012373	Abnormal eye physiology	55863	TMEM126B	ORPHA:2609
HP:0012373	Abnormal eye physiology	4535	MT-ND1	ORPHA:2609
HP:0012373	Abnormal eye physiology	4537	MT-ND3	ORPHA:2609
HP:0012373	Abnormal eye physiology	4729	NDUFV2	ORPHA:2609
HP:0012373	Abnormal eye physiology	4694	NDUFA1	ORPHA:2609
HP:0012373	Abnormal eye physiology	4720	NDUFS2	ORPHA:2609
HP:0012373	Abnormal eye physiology	4726	NDUFS6	ORPHA:2609
HP:0012373	Abnormal eye physiology	4728	NDUFS8	ORPHA:2609
HP:0012373	Abnormal eye physiology	4722	NDUFS3	ORPHA:2609
HP:0012373	Abnormal eye physiology	79133	NDUFAF5	ORPHA:2609
HP:0012373	Abnormal eye physiology	79133	NDUFAF5	OMIM:618238
HP:0012373	Abnormal eye physiology	126328	NDUFA11	ORPHA:2609
HP:0012373	Abnormal eye physiology	4709	NDUFB3	ORPHA:2609
HP:0012373	Abnormal eye physiology	80224	NUBPL	ORPHA:2609
HP:0012373	Abnormal eye physiology	29078	NDUFAF4	ORPHA:2609
HP:0012373	Abnormal eye physiology	374291	NDUFS7	ORPHA:2609
HP:0012373	Abnormal eye physiology	4700	NDUFA6	ORPHA:2609
HP:0012373	Abnormal eye physiology	4536	MT-ND2	ORPHA:2609
HP:0012373	Abnormal eye physiology	4719	NDUFS1	ORPHA:2609
HP:0012373	Abnormal eye physiology	4719	NDUFS1	OMIM:618226
HP:0012373	Abnormal eye physiology	4715	NDUFB9	ORPHA:2609
HP:0012373	Abnormal eye physiology	10617	STAMBP	OMIM:614261
HP:0012373	Abnormal eye physiology	27247	NFU1	OMIM:620938
HP:0012373	Abnormal eye physiology	3145	HMBS	OMIM:620704
HP:0012373	Abnormal eye physiology	6016	RIT1	OMIM:615355
HP:0012373	Abnormal eye physiology	6016	RIT1	ORPHA:648
HP:0012373	Abnormal eye physiology	4204	MECP2	ORPHA:1762
HP:0012373	Abnormal eye physiology	4204	MECP2	OMIM:300260
HP:0012373	Abnormal eye physiology	10973	ASCC3	OMIM:620700
HP:0012373	Abnormal eye physiology	5361	PLXNA1	OMIM:619955
HP:0012373	Abnormal eye physiology	84942	WDR73	OMIM:251300
HP:0012373	Abnormal eye physiology	267010	RNU12	OMIM:603116
HP:0012373	Abnormal eye physiology	65267	WNK3	OMIM:309610
HP:0012373	Abnormal eye physiology	6536	SLC6A9	OMIM:617301
HP:0012373	Abnormal eye physiology	1644	DDC	ORPHA:35708
HP:0012373	Abnormal eye physiology	1644	DDC	OMIM:608643
HP:0012373	Abnormal eye physiology	101060691	NUTM2B-AS1	OMIM:618637
HP:0012373	Abnormal eye physiology	129563	DIS3L2	ORPHA:2849
HP:0012373	Abnormal eye physiology	3781	KCNN2	OMIM:619724
HP:0012373	Abnormal eye physiology	23384	SPECC1L	ORPHA:1519
HP:0012373	Abnormal eye physiology	3980	LIG3	ORPHA:298
HP:0012373	Abnormal eye physiology	129685	TAF8	OMIM:619972
HP:0012373	Abnormal eye physiology	10584	COLEC10	OMIM:248340
HP:0012373	Abnormal eye physiology	10584	COLEC10	ORPHA:293843
HP:0012373	Abnormal eye physiology	9698	PUM1	OMIM:620719
HP:0012373	Abnormal eye physiology	9698	PUM1	OMIM:617931
HP:0012373	Abnormal eye physiology	199857	ALG14	OMIM:616227
HP:0012373	Abnormal eye physiology	199857	ALG14	ORPHA:353327
HP:0012373	Abnormal eye physiology	9581	PREPL	OMIM:616224
HP:0012373	Abnormal eye physiology	9581	PREPL	ORPHA:163690
HP:0012373	Abnormal eye physiology	311	ANXA11	OMIM:619733
HP:0012373	Abnormal eye physiology	85365	ALG2	OMIM:616228
HP:0012373	Abnormal eye physiology	85365	ALG2	ORPHA:353327
HP:0012373	Abnormal eye physiology	64359	NXN	ORPHA:1507
HP:0012373	Abnormal eye physiology	4920	ROR2	ORPHA:1507
HP:0012373	Abnormal eye physiology	4920	ROR2	OMIM:268310
HP:0012373	Abnormal eye physiology	8726	EED	OMIM:617561
HP:0012373	Abnormal eye physiology	4297	KMT2A	ORPHA:319182
HP:0012373	Abnormal eye physiology	55714	TENM3	OMIM:615145
HP:0012373	Abnormal eye physiology	84314	TMEM107	OMIM:617563
HP:0012373	Abnormal eye physiology	246243	RNASEH1	OMIM:616479
HP:0012373	Abnormal eye physiology	79731	NARS2	OMIM:616239
HP:0012373	Abnormal eye physiology	55623	THUMPD1	OMIM:619989
HP:0012373	Abnormal eye physiology	8642	DCHS1	OMIM:601390
HP:0012373	Abnormal eye physiology	9851	KIAA0753	ORPHA:475
HP:0012373	Abnormal eye physiology	5147	PDE6D	ORPHA:475
HP:0012373	Abnormal eye physiology	79600	TCTN1	ORPHA:475
HP:0012373	Abnormal eye physiology	65250	CPLANE1	ORPHA:475
HP:0012373	Abnormal eye physiology	200894	ARL13B	ORPHA:475
HP:0012373	Abnormal eye physiology	200894	ARL13B	OMIM:612291
HP:0012373	Abnormal eye physiology	9731	CEP104	ORPHA:475
HP:0012373	Abnormal eye physiology	219844	HYLS1	ORPHA:475
HP:0012373	Abnormal eye physiology	219854	TMEM218	ORPHA:475
HP:0012373	Abnormal eye physiology	79867	TCTN2	ORPHA:475
HP:0012373	Abnormal eye physiology	10464	PIBF1	ORPHA:475
HP:0012373	Abnormal eye physiology	25776	CBY1	ORPHA:475
HP:0012373	Abnormal eye physiology	27077	B9D1	ORPHA:475
HP:0012373	Abnormal eye physiology	80173	IFT74	ORPHA:475
HP:0012373	Abnormal eye physiology	3981	LIG4	ORPHA:235
HP:0012373	Abnormal eye physiology	54888	NSUN2	ORPHA:235
HP:0012373	Abnormal eye physiology	8879	SGPL1	OMIM:617575
HP:0012373	Abnormal eye physiology	7862	BRPF1	OMIM:617333
HP:0012373	Abnormal eye physiology	55699	IARS2	OMIM:616007
HP:0012373	Abnormal eye physiology	8364	H4C3	OMIM:619758
HP:0012373	Abnormal eye physiology	26137	ZBTB20	OMIM:259050
HP:0012373	Abnormal eye physiology	8314	BAP1	OMIM:619762
HP:0012373	Abnormal eye physiology	27086	FOXP1	ORPHA:391372
HP:0012373	Abnormal eye physiology	9562	MINPP1	OMIM:619527
HP:0012373	Abnormal eye physiology	4626	MYH8	OMIM:158300
HP:0012373	Abnormal eye physiology	4626	MYH8	ORPHA:3377
HP:0012373	Abnormal eye physiology	5339	PLEC	ORPHA:257
HP:0012373	Abnormal eye physiology	57724	EPG5	OMIM:242840
HP:0012373	Abnormal eye physiology	7030	TFE3	OMIM:301066
HP:0012373	Abnormal eye physiology	10463	SLC30A9	OMIM:617595
HP:0012373	Abnormal eye physiology	10516	FBLN5	ORPHA:90348
HP:0012373	Abnormal eye physiology	5832	ALDH18A1	ORPHA:90348
HP:0012373	Abnormal eye physiology	10262	SF3B4	ORPHA:245
HP:0012373	Abnormal eye physiology	4509	MT-ATP8	ORPHA:480
HP:0012373	Abnormal eye physiology	4509	MT-ATP8	ORPHA:254913
HP:0012373	Abnormal eye physiology	4567	MT-TL1	ORPHA:480
HP:0012373	Abnormal eye physiology	4567	MT-TL1	ORPHA:663
HP:0012373	Abnormal eye physiology	8621	CDK13	OMIM:617360
HP:0012373	Abnormal eye physiology	3658	IREB2	OMIM:618451
HP:0012373	Abnormal eye physiology	11338	U2AF2	OMIM:620535
HP:0012373	Abnormal eye physiology	27145	FILIP1	OMIM:620775
HP:0012373	Abnormal eye physiology	6654	SOS1	OMIM:610733
HP:0012373	Abnormal eye physiology	6654	SOS1	ORPHA:648
HP:0012373	Abnormal eye physiology	78987	CRELD1	OMIM:620771
HP:0012373	Abnormal eye physiology	8803	SUCLA2	ORPHA:1933
HP:0012373	Abnormal eye physiology	8803	SUCLA2	OMIM:612073
HP:0012373	Abnormal eye physiology	10371	SEMA3A	ORPHA:478
HP:0012373	Abnormal eye physiology	81848	SPRY4	ORPHA:478
HP:0012373	Abnormal eye physiology	23767	FLRT3	ORPHA:478
HP:0012373	Abnormal eye physiology	128674	PROKR2	ORPHA:478
HP:0012373	Abnormal eye physiology	79625	NDNF	ORPHA:478
HP:0012373	Abnormal eye physiology	2253	FGF8	ORPHA:478
HP:0012373	Abnormal eye physiology	389549	FEZF1	ORPHA:478
HP:0012373	Abnormal eye physiology	1630	DCC	ORPHA:478
HP:0012373	Abnormal eye physiology	3730	ANOS1	ORPHA:478
HP:0012373	Abnormal eye physiology	54756	IL17RD	ORPHA:478
HP:0012373	Abnormal eye physiology	285025	CCDC141	ORPHA:478
HP:0012373	Abnormal eye physiology	60675	PROK2	ORPHA:478
HP:0012373	Abnormal eye physiology	1848	DUSP6	ORPHA:478
HP:0012373	Abnormal eye physiology	6870	TACR3	ORPHA:478
HP:0012373	Abnormal eye physiology	55717	WDR11	ORPHA:478
HP:0012373	Abnormal eye physiology	9394	HS6ST1	ORPHA:478
HP:0012373	Abnormal eye physiology	8820	HESX1	ORPHA:478
HP:0012373	Abnormal eye physiology	8822	FGF17	ORPHA:478
HP:0012373	Abnormal eye physiology	2737	GLI3	ORPHA:672
HP:0012373	Abnormal eye physiology	353116	RILPL1	OMIM:619790
HP:0012373	Abnormal eye physiology	55217	TMLHE	OMIM:300872
HP:0012373	Abnormal eye physiology	5898	RALA	OMIM:619311
HP:0012373	Abnormal eye physiology	6477	SIAH1	OMIM:619314
HP:0012373	Abnormal eye physiology	23345	SYNE1	ORPHA:88644
HP:0012373	Abnormal eye physiology	23345	SYNE1	OMIM:610743
HP:0012373	Abnormal eye physiology	23345	SYNE1	ORPHA:98853
HP:0012373	Abnormal eye physiology	170689	ADAMTS15	OMIM:620545
HP:0012373	Abnormal eye physiology	6091	ROBO1	OMIM:620303
HP:0012373	Abnormal eye physiology	9256	TSPOAP1	ORPHA:101150
HP:0012373	Abnormal eye physiology	4076	CAPRIN1	OMIM:620782
HP:0012373	Abnormal eye physiology	27235	COQ2	OMIM:146500
HP:0012373	Abnormal eye physiology	2202	EFEMP1	OMIM:620780
HP:0012373	Abnormal eye physiology	4568	MT-TL2	ORPHA:663
HP:0012373	Abnormal eye physiology	4570	MT-TN	ORPHA:663
HP:0012373	Abnormal eye physiology	4570	MT-TN	OMIM:220110
HP:0012373	Abnormal eye physiology	4574	MT-TS1	ORPHA:663
HP:0012373	Abnormal eye physiology	4574	MT-TS1	OMIM:220110
HP:0012373	Abnormal eye physiology	3714	JAG2	OMIM:619566
HP:0012373	Abnormal eye physiology	79048	SECISBP2	ORPHA:171706
HP:0012373	Abnormal eye physiology	10059	DNM1L	ORPHA:98673
HP:0012373	Abnormal eye physiology	4976	OPA1	ORPHA:98673
HP:0012373	Abnormal eye physiology	4976	OPA1	OMIM:125250
HP:0012373	Abnormal eye physiology	54496	PRMT7	OMIM:617157
HP:0012373	Abnormal eye physiology	1108	CHD4	OMIM:617159
HP:0012373	Abnormal eye physiology	4000	LMNA	OMIM:212112
HP:0012373	Abnormal eye physiology	4000	LMNA	ORPHA:2229
HP:0012373	Abnormal eye physiology	4000	LMNA	ORPHA:98853
HP:0012373	Abnormal eye physiology	2077	ERF	ORPHA:207
HP:0012373	Abnormal eye physiology	23389	MED13L	ORPHA:369891
HP:0012373	Abnormal eye physiology	112812	FDX2	OMIM:251900
HP:0012373	Abnormal eye physiology	22808	MRAS	OMIM:618499
HP:0012373	Abnormal eye physiology	22808	MRAS	ORPHA:648
HP:0012373	Abnormal eye physiology	26040	SETBP1	OMIM:616078
HP:0012373	Abnormal eye physiology	5144	PDE4D	ORPHA:439822
HP:0012373	Abnormal eye physiology	668	FOXL2	OMIM:110100
HP:0012373	Abnormal eye physiology	668	FOXL2	ORPHA:572333
HP:0012373	Abnormal eye physiology	10771	ZMYND11	OMIM:616083
HP:0012373	Abnormal eye physiology	57003	CCDC47	OMIM:618268
HP:0012373	Abnormal eye physiology	226	ALDOA	OMIM:611881
HP:0012373	Abnormal eye physiology	55252	ASXL2	OMIM:617190
HP:0012373	Abnormal eye physiology	7299	TYR	ORPHA:895
HP:0012373	Abnormal eye physiology	6591	SNAI2	ORPHA:895
HP:0012373	Abnormal eye physiology	4254	KITLG	ORPHA:895
HP:0012373	Abnormal eye physiology	4140	MARK3	OMIM:618283
HP:0012373	Abnormal eye physiology	2733	GLE1	OMIM:611890
HP:0012373	Abnormal eye physiology	22800	RRAS2	ORPHA:648
HP:0012373	Abnormal eye physiology	867	CBL	ORPHA:648
HP:0012373	Abnormal eye physiology	867	CBL	OMIM:613563
HP:0012373	Abnormal eye physiology	6237	RRAS	ORPHA:648
HP:0012373	Abnormal eye physiology	200734	SPRED2	ORPHA:648
HP:0012373	Abnormal eye physiology	5922	RASA2	ORPHA:648
HP:0012373	Abnormal eye physiology	83737	ITCH	ORPHA:228426
HP:0012373	Abnormal eye physiology	83737	ITCH	OMIM:613385
HP:0012373	Abnormal eye physiology	124454	EARS2	OMIM:614924
HP:0012373	Abnormal eye physiology	11011	TLK2	OMIM:618050
HP:0012373	Abnormal eye physiology	132001	TAMM41	OMIM:620139
HP:0012373	Abnormal eye physiology	58499	ZNF462	ORPHA:502430
HP:0012373	Abnormal eye physiology	58499	ZNF462	OMIM:618619
HP:0012373	Abnormal eye physiology	259232	NALCN	ORPHA:2053
HP:0012373	Abnormal eye physiology	91574	MTRFR	ORPHA:254930
HP:0012373	Abnormal eye physiology	91574	MTRFR	OMIM:613559
HP:0012373	Abnormal eye physiology	6834	SURF1	OMIM:220110
HP:0012373	Abnormal eye physiology	8506	CNTNAP1	OMIM:618186
HP:0012373	Abnormal eye physiology	10992	SF3B2	OMIM:164210
HP:0012373	Abnormal eye physiology	1299	COL9A3	OMIM:620022
HP:0012373	Abnormal eye physiology	57176	VARS2	OMIM:615917
HP:0012373	Abnormal eye physiology	58	ACTA1	ORPHA:171436
HP:0012373	Abnormal eye physiology	58	ACTA1	ORPHA:171439
HP:0012373	Abnormal eye physiology	4703	NEB	ORPHA:171436
HP:0012373	Abnormal eye physiology	4703	NEB	ORPHA:171439
HP:0012373	Abnormal eye physiology	10324	KLHL41	ORPHA:171436
HP:0012373	Abnormal eye physiology	10324	KLHL41	ORPHA:171439
HP:0012373	Abnormal eye physiology	56203	LMOD3	ORPHA:171436
HP:0012373	Abnormal eye physiology	1073	CFL2	ORPHA:171436
HP:0012373	Abnormal eye physiology	1352	COX10	OMIM:619046
HP:0012373	Abnormal eye physiology	6595	SMARCA2	OMIM:619293
HP:0012373	Abnormal eye physiology	514	ATP5F1E	ORPHA:254913
HP:0012373	Abnormal eye physiology	513	ATP5F1D	ORPHA:254913
HP:0012373	Abnormal eye physiology	498	ATP5F1A	ORPHA:254913
HP:0012373	Abnormal eye physiology	4508	MT-ATP6	ORPHA:254913
HP:0012373	Abnormal eye physiology	84833	ATP5MK	ORPHA:254913
HP:0012373	Abnormal eye physiology	91647	ATPAF2	ORPHA:254913
HP:0012373	Abnormal eye physiology	274	BIN1	OMIM:255200
HP:0012373	Abnormal eye physiology	274	BIN1	ORPHA:169189
HP:0012373	Abnormal eye physiology	7276	TTR	OMIM:105210
HP:0012373	Abnormal eye physiology	4953	ODC1	OMIM:619075
HP:0012373	Abnormal eye physiology	1267	CNP	OMIM:619071
HP:0012373	Abnormal eye physiology	149371	EXOC8	OMIM:619076
HP:0012373	Abnormal eye physiology	1857	DVL3	ORPHA:3107
HP:0012373	Abnormal eye physiology	7474	WNT5A	ORPHA:3107
HP:0012373	Abnormal eye physiology	1855	DVL1	ORPHA:3107
HP:0012373	Abnormal eye physiology	2535	FZD2	ORPHA:3107
HP:0012373	Abnormal eye physiology	285175	UNC80	OMIM:616801
HP:0012373	Abnormal eye physiology	8626	TP63	OMIM:129400
HP:0012373	Abnormal eye physiology	78989	COLEC11	OMIM:265050
HP:0012373	Abnormal eye physiology	78989	COLEC11	ORPHA:293843
HP:0012373	Abnormal eye physiology	5594	MAPK1	OMIM:619087
HP:0012373	Abnormal eye physiology	55129	ANO10	ORPHA:284289
HP:0012373	Abnormal eye physiology	84665	MYPN	ORPHA:171439
HP:0012373	Abnormal eye physiology	390594	KBTBD13	ORPHA:171439
HP:0012373	Abnormal eye physiology	84317	CCDC115	OMIM:616828
HP:0012373	Abnormal eye physiology	2273	FHL1	ORPHA:98863
HP:0012373	Abnormal eye physiology	2010	EMD	ORPHA:98863
HP:0012373	Abnormal eye physiology	92154	MTSS2	OMIM:620086
HP:0012373	Abnormal eye physiology	10664	CTCF	OMIM:615502
HP:0012373	Abnormal eye physiology	23534	TNPO3	OMIM:608423
HP:0012373	Abnormal eye physiology	3720	JARID2	OMIM:620098
HP:0012373	Abnormal eye physiology	79188	TMEM43	ORPHA:98853
HP:0012373	Abnormal eye physiology	23224	SYNE2	ORPHA:98853
HP:0012373	Abnormal eye physiology	29926	GMPPA	OMIM:615510
HP:0012373	Abnormal eye physiology	85358	SHANK3	OMIM:606232
HP:0012373	Abnormal eye physiology	4618	MYF6	ORPHA:169189
HP:0012373	Abnormal eye physiology	57465	TBC1D24	OMIM:220500
HP:0012373	Abnormal eye physiology	55209	SETD5	OMIM:615761
HP:0012373	Abnormal eye physiology	56997	COQ8A	OMIM:612016
HP:0012373	Abnormal eye physiology	26224	FBXL3	OMIM:606220
HP:0012373	Abnormal eye physiology	101929726	MYMX	ORPHA:1358
HP:0012373	Abnormal eye physiology	5925	RB1	ORPHA:1587
HP:0012373	Abnormal eye physiology	708	C1QBP	OMIM:617713
HP:0012373	Abnormal eye physiology	5718	PSMD12	ORPHA:529962
HP:0012373	Abnormal eye physiology	2186	BPTF	ORPHA:529962
HP:0012373	Abnormal eye physiology	2239	GPC4	ORPHA:2662
HP:0012373	Abnormal eye physiology	8092	ALX1	ORPHA:306542
HP:0012373	Abnormal eye physiology	6938	TCF12	OMIM:615314
HP:0012373	Abnormal eye physiology	84617	TUBB6	OMIM:617732
HP:0012373	Abnormal eye physiology	4659	PPP1R12A	OMIM:618820
HP:0012373	Abnormal eye physiology	51124	IER3IP1	OMIM:614231
HP:0012373	Abnormal eye physiology	54870	QRICH1	OMIM:617982
HP:0012373	Abnormal eye physiology	5500	PPP1CB	OMIM:617506
HP:0012373	Abnormal eye physiology	6519	SLC3A1	ORPHA:163690
HP:0012373	Abnormal eye physiology	5296	PIK3R2	OMIM:603387
HP:0012373	Abnormal eye physiology	23102	TBC1D2B	ORPHA:397973
HP:0012373	Abnormal eye physiology	7043	TGFB3	OMIM:615582
HP:0012373	Abnormal eye physiology	9181	ARHGEF2	OMIM:617523
HP:0012373	Abnormal eye physiology	9990	SLC12A6	OMIM:218000
HP:0012373	Abnormal eye physiology	695	BTK	OMIM:300755
HP:0012373	Abnormal eye physiology	695	BTK	ORPHA:47
HP:0012373	Abnormal eye physiology	695	BTK	OMIM:307200
HP:0012373	Abnormal eye physiology	987	LRBA	OMIM:614700
HP:0012373	Abnormal eye physiology	2778	GNAS	ORPHA:94089
HP:0012373	Abnormal eye physiology	2778	GNAS	ORPHA:79443
HP:0012373	Abnormal eye physiology	2778	GNAS	ORPHA:79444
HP:0012373	Abnormal eye physiology	8675	STX16	ORPHA:94089
HP:0012373	Abnormal eye physiology	5896	RAG1	OMIM:601457
HP:0012373	Abnormal eye physiology	5897	RAG2	OMIM:601457
HP:0012373	Abnormal eye physiology	1294	COL7A1	OMIM:226600
HP:0012373	Abnormal eye physiology	7132	TNFRSF1A	ORPHA:32960
HP:0012373	Abnormal eye physiology	7132	TNFRSF1A	OMIM:142680
HP:0012373	Abnormal eye physiology	7086	TKT	ORPHA:488618
HP:0012373	Abnormal eye physiology	65082	VPS33A	ORPHA:505248
HP:0012373	Abnormal eye physiology	115650	TNFRSF13C	OMIM:240500
HP:0012373	Abnormal eye physiology	29851	ICOS	OMIM:240500
HP:0012373	Abnormal eye physiology	29851	ICOS	OMIM:607594
HP:0012373	Abnormal eye physiology	930	CD19	OMIM:240500
HP:0012373	Abnormal eye physiology	930	CD19	OMIM:613493
HP:0012373	Abnormal eye physiology	23495	TNFRSF13B	OMIM:240500
HP:0012373	Abnormal eye physiology	1380	CR2	OMIM:240500
HP:0012373	Abnormal eye physiology	7037	TFRC	OMIM:616740
HP:0012373	Abnormal eye physiology	686	BTD	OMIM:253260
HP:0012373	Abnormal eye physiology	686	BTD	ORPHA:79241
HP:0012373	Abnormal eye physiology	3507	IGHM	OMIM:601495
HP:0012373	Abnormal eye physiology	3507	IGHM	ORPHA:33110
HP:0012373	Abnormal eye physiology	8676	STX11	OMIM:603552
HP:0012373	Abnormal eye physiology	5075	PAX1	OMIM:615560
HP:0012373	Abnormal eye physiology	974	CD79B	OMIM:612692
HP:0012373	Abnormal eye physiology	974	CD79B	ORPHA:33110
HP:0012373	Abnormal eye physiology	55612	FERMT1	ORPHA:2908
HP:0012373	Abnormal eye physiology	7390	UROS	OMIM:263700
HP:0012373	Abnormal eye physiology	5692	PSMB4	OMIM:617591
HP:0012373	Abnormal eye physiology	54809	SAMD9	OMIM:610455
HP:0012373	Abnormal eye physiology	5696	PSMB8	OMIM:256040
HP:0012373	Abnormal eye physiology	4067	LYN	OMIM:620376
HP:0012373	Abnormal eye physiology	6929	TCF3	ORPHA:33110
HP:0012373	Abnormal eye physiology	7922	SLC39A7	ORPHA:33110
HP:0012373	Abnormal eye physiology	973	CD79A	ORPHA:33110
HP:0012373	Abnormal eye physiology	6688	SPI1	ORPHA:33110
HP:0012373	Abnormal eye physiology	3543	IGLL1	ORPHA:33110
HP:0012373	Abnormal eye physiology	29760	BLNK	ORPHA:33110
HP:0012373	Abnormal eye physiology	56262	LRRC8A	ORPHA:33110
HP:0012373	Abnormal eye physiology	10577	NPC2	OMIM:607625
HP:0012373	Abnormal eye physiology	5610	EIF2AK2	OMIM:619687
HP:0012373	Abnormal eye physiology	8309	ACOX2	OMIM:617308
HP:0012373	Abnormal eye physiology	4864	NPC1	OMIM:257220
HP:0012373	Abnormal eye physiology	1639	DCTN1	OMIM:168605
HP:0012373	Abnormal eye physiology	440193	CCDC88C	ORPHA:423275
HP:0012373	Abnormal eye physiology	10681	GNB5	OMIM:617173
HP:0012373	Abnormal eye physiology	10681	GNB5	ORPHA:542306
HP:0012373	Abnormal eye physiology	6742	SSBP1	OMIM:165510
HP:0012373	Abnormal eye physiology	54476	RNF216	ORPHA:1173
HP:0012373	Abnormal eye physiology	23646	PLD3	OMIM:617770
HP:0012373	Abnormal eye physiology	391356	PTRHD1	OMIM:620747
HP:0012373	Abnormal eye physiology	60481	ELOVL5	OMIM:615957
HP:0012373	Abnormal eye physiology	60481	ELOVL5	ORPHA:423296
HP:0012373	Abnormal eye physiology	6315	ATXN8OS	OMIM:608768
HP:0012373	Abnormal eye physiology	724066	ATXN8	OMIM:608768
HP:0012373	Abnormal eye physiology	5173	PDYN	ORPHA:101108
HP:0012373	Abnormal eye physiology	5173	PDYN	OMIM:610245
HP:0012373	Abnormal eye physiology	343641	TGM6	OMIM:613908
HP:0012373	Abnormal eye physiology	7143	TNR	OMIM:619653
HP:0012373	Abnormal eye physiology	51079	NDUFA13	OMIM:618249
HP:0012373	Abnormal eye physiology	84274	COQ5	OMIM:619028
HP:0012373	Abnormal eye physiology	25793	FBXO7	ORPHA:171695
HP:0012373	Abnormal eye physiology	25793	FBXO7	OMIM:260300
HP:0012373	Abnormal eye physiology	8449	DHX16	OMIM:618733
HP:0012373	Abnormal eye physiology	6342	SCP2	OMIM:613724
HP:0012373	Abnormal eye physiology	9071	CLDN10	OMIM:617671
HP:0012373	Abnormal eye physiology	6558	SLC12A2	OMIM:619080
HP:0012373	Abnormal eye physiology	56246	MRAP	OMIM:607398
HP:0012373	Abnormal eye physiology	54982	CLN6	OMIM:601780
HP:0012373	Abnormal eye physiology	83636	C19orf12	OMIM:614298
HP:0012373	Abnormal eye physiology	1513	CTSK	ORPHA:763
HP:0012373	Abnormal eye physiology	6011	GRK1	ORPHA:75382
HP:0012373	Abnormal eye physiology	22926	ATF6	ORPHA:49382
HP:0012373	Abnormal eye physiology	5146	PDE6C	ORPHA:49382
HP:0012373	Abnormal eye physiology	5149	PDE6H	ORPHA:49382
HP:0012373	Abnormal eye physiology	2780	GNAT2	ORPHA:49382
HP:0012373	Abnormal eye physiology	1261	CNGA3	ORPHA:49382
HP:0012373	Abnormal eye physiology	54714	CNGB3	ORPHA:49382
HP:0012373	Abnormal eye physiology	5130	PCYT1A	ORPHA:85167
HP:0012373	Abnormal eye physiology	4157	MC1R	ORPHA:79432
HP:0012373	Abnormal eye physiology	51085	MLXIPL	OMIM:194050
HP:0012373	Abnormal eye physiology	57105	CYSLTR2	ORPHA:39044
HP:0012373	Abnormal eye physiology	2767	GNA11	ORPHA:39044
HP:0012373	Abnormal eye physiology	23451	SF3B1	ORPHA:39044
HP:0012373	Abnormal eye physiology	11253	MAN1B1	ORPHA:397941
HP:0012373	Abnormal eye physiology	8367	H4C5	OMIM:619950
HP:0012373	Abnormal eye physiology	4750	NEK1	OMIM:263520
HP:0012373	Abnormal eye physiology	80816	ASXL3	OMIM:615485
HP:0012373	Abnormal eye physiology	283489	CHAMP1	OMIM:616579
HP:0012373	Abnormal eye physiology	10847	SRCAP	ORPHA:2044
HP:0012373	Abnormal eye physiology	10847	SRCAP	OMIM:136140
HP:0012373	Abnormal eye physiology	10847	SRCAP	OMIM:619595
HP:0012373	Abnormal eye physiology	55780	ERMARD	ORPHA:75857
HP:0012373	Abnormal eye physiology	80204	FBXO11	OMIM:618089
HP:0012373	Abnormal eye physiology	10111	RAD50	OMIM:613078
HP:0012373	Abnormal eye physiology	59341	TRPV4	OMIM:113500
HP:0012373	Abnormal eye physiology	64919	BCL11B	OMIM:618092
HP:0012373	Abnormal eye physiology	1656	DDX6	OMIM:618653
HP:0012373	Abnormal eye physiology	790955	UQCC3	OMIM:616111
HP:0012373	Abnormal eye physiology	79813	EHMT1	OMIM:610253
HP:0012373	Abnormal eye physiology	79813	EHMT1	ORPHA:261652
HP:0012373	Abnormal eye physiology	2783	GNB2	OMIM:619503
HP:0012373	Abnormal eye physiology	25942	SIN3A	OMIM:613406
HP:0012373	Abnormal eye physiology	11081	KERA	OMIM:217300
HP:0012373	Abnormal eye physiology	11285	B4GALT7	OMIM:130070
HP:0012373	Abnormal eye physiology	7025	NR2F1	ORPHA:401777
HP:0012373	Abnormal eye physiology	8493	PPM1D	OMIM:617450
HP:0012373	Abnormal eye physiology	55773	TBC1D23	OMIM:617695
HP:0012373	Abnormal eye physiology	22859	ADGRL1	OMIM:620065
HP:0012373	Abnormal eye physiology	10236	HNRNPR	OMIM:620073
HP:0012373	Abnormal eye physiology	283209	PGM2L1	OMIM:620191
HP:0012373	Abnormal eye physiology	58508	KMT2C	ORPHA:261652
HP:0012373	Abnormal eye physiology	7750	ZMYM2	OMIM:619522
HP:0012373	Abnormal eye physiology	51098	IFT52	OMIM:617102
HP:0012373	Abnormal eye physiology	4849	CNOT3	OMIM:618672
HP:0012373	Abnormal eye physiology	81887	LAS1L	ORPHA:3459
HP:0012373	Abnormal eye physiology	4488	MSX2	OMIM:604757
HP:0012373	Abnormal eye physiology	8242	KDM5C	OMIM:300534
HP:0012373	Abnormal eye physiology	63901	FAM111A	OMIM:127000
HP:0012373	Abnormal eye physiology	63901	FAM111A	ORPHA:93325
HP:0012373	Abnormal eye physiology	2703	GJA8	OMIM:612474
HP:0012373	Abnormal eye physiology	2702	GJA5	OMIM:612474
HP:0012373	Abnormal eye physiology	6134	RPL10	OMIM:300998
HP:0012373	Abnormal eye physiology	100033413	SNORD116-1	OMIM:176270
HP:0012373	Abnormal eye physiology	8924	HERC2	OMIM:176270
HP:0012373	Abnormal eye physiology	23742	NPAP1	OMIM:176270
HP:0012373	Abnormal eye physiology	338433	SNORD115-1	OMIM:176270
HP:0012373	Abnormal eye physiology	7681	MKRN3	OMIM:176270
HP:0012373	Abnormal eye physiology	145624	PWAR1	OMIM:176270
HP:0012373	Abnormal eye physiology	3653	IPW	OMIM:176270
HP:0012373	Abnormal eye physiology	791114	PWRN1	OMIM:176270
HP:0012373	Abnormal eye physiology	128869	PIGU	OMIM:618590
HP:0012373	Abnormal eye physiology	7707	ZNF148	OMIM:617260
HP:0012373	Abnormal eye physiology	29998	BICRA	OMIM:619325
HP:0012373	Abnormal eye physiology	6651	SON	OMIM:617140
HP:0012373	Abnormal eye physiology	6651	SON	ORPHA:500150
HP:0012373	Abnormal eye physiology	23524	SRRM2	OMIM:620439
HP:0012373	Abnormal eye physiology	3097	HIVEP2	OMIM:616977
HP:0012373	Abnormal eye physiology	537	ATP6AP1	OMIM:300972
HP:0012373	Abnormal eye physiology	2058	EPRS1	OMIM:617951
HP:0012373	Abnormal eye physiology	201163	FLCN	OMIM:610883
HP:0012373	Abnormal eye physiology	10524	KAT5	OMIM:619103
HP:0012373	Abnormal eye physiology	6874	TAF4	OMIM:620450
HP:0012373	Abnormal eye physiology	80152	CENPT	OMIM:618702
HP:0012373	Abnormal eye physiology	8567	MADD	OMIM:619004
HP:0012373	Abnormal eye physiology	55617	TASP1	OMIM:618950
HP:0012373	Abnormal eye physiology	23096	IQSEC2	OMIM:309530
HP:0012373	Abnormal eye physiology	10084	PQBP1	OMIM:309500
HP:0012373	Abnormal eye physiology	51594	NBAS	OMIM:614800
HP:0012373	Abnormal eye physiology	1302	COL11A2	ORPHA:1427
HP:0012373	Abnormal eye physiology	84148	KAT8	OMIM:618974
HP:0012373	Abnormal eye physiology	35	ACADS	OMIM:201470
HP:0012373	Abnormal eye physiology	4534	MTM1	OMIM:310400
HP:0012373	Abnormal eye physiology	8518	ELP1	ORPHA:1764
HP:0012373	Abnormal eye physiology	51	ACOX1	ORPHA:2971
HP:0012373	Abnormal eye physiology	57165	GJC2	OMIM:608804
HP:0012373	Abnormal eye physiology	2201	FBN2	OMIM:121050
HP:0012373	Abnormal eye physiology	5728	PTEN	ORPHA:2969
HP:0012373	Abnormal eye physiology	5728	PTEN	ORPHA:201
HP:0012373	Abnormal eye physiology	5728	PTEN	OMIM:158350
HP:0012373	Abnormal eye physiology	55764	IFT122	ORPHA:1515
HP:0012373	Abnormal eye physiology	55764	IFT122	OMIM:218330
HP:0012373	Abnormal eye physiology	6660	SOX5	ORPHA:313892
HP:0012373	Abnormal eye physiology	6660	SOX5	OMIM:616803
HP:0012373	Abnormal eye physiology	84572	GNPTG	OMIM:252605
HP:0012373	Abnormal eye physiology	818	CAMK2G	OMIM:618522
HP:0012373	Abnormal eye physiology	23327	NEDD4L	OMIM:617201
HP:0012373	Abnormal eye physiology	1969	EPHA2	OMIM:116600
HP:0012373	Abnormal eye physiology	7337	UBE3A	OMIM:105830
HP:0012373	Abnormal eye physiology	55210	ATAD3A	ORPHA:496790
HP:0012373	Abnormal eye physiology	55210	ATAD3A	OMIM:617183
HP:0012373	Abnormal eye physiology	4644	MYO5A	ORPHA:33445
HP:0012373	Abnormal eye physiology	6942	TCF20	OMIM:618430
HP:0012373	Abnormal eye physiology	9772	TMEM94	OMIM:618316
HP:0012373	Abnormal eye physiology	2683	B4GALT1	ORPHA:79332
HP:0012373	Abnormal eye physiology	5373	PMM2	ORPHA:79318
HP:0012373	Abnormal eye physiology	9725	TMEM63A	OMIM:618688
HP:0012373	Abnormal eye physiology	4883	NPR3	OMIM:619543
HP:0012373	Abnormal eye physiology	171546	SPTSSA	OMIM:620417
HP:0012373	Abnormal eye physiology	165829	GPR156	OMIM:620551
HP:0012373	Abnormal eye physiology	10483	SEC23B	ORPHA:201
HP:0012373	Abnormal eye physiology	6390	SDHB	ORPHA:201
HP:0012373	Abnormal eye physiology	6391	SDHC	ORPHA:201
HP:0012373	Abnormal eye physiology	205717	USF3	ORPHA:201
HP:0012373	Abnormal eye physiology	100144748	KLLN	ORPHA:201
HP:0012373	Abnormal eye physiology	9509	ADAMTS2	OMIM:225410
HP:0012373	Abnormal eye physiology	4015	LOX	OMIM:617168
HP:0012373	Abnormal eye physiology	92949	ADAMTSL1	ORPHA:521445
HP:0012373	Abnormal eye physiology	1286	COL4A4	OMIM:203780
HP:0012373	Abnormal eye physiology	22978	NT5C2	ORPHA:320396
HP:0012373	Abnormal eye physiology	22978	NT5C2	OMIM:613162
HP:0012373	Abnormal eye physiology	4841	NONO	OMIM:300967
HP:0012373	Abnormal eye physiology	4841	NONO	ORPHA:466791
HP:0012373	Abnormal eye physiology	8318	CDC45	OMIM:617063
HP:0012373	Abnormal eye physiology	1289	COL5A1	OMIM:130000
HP:0012373	Abnormal eye physiology	129285	PPP1R21	OMIM:619383
HP:0012373	Abnormal eye physiology	2314	FLII	ORPHA:819
HP:0012373	Abnormal eye physiology	10743	RAI1	ORPHA:819
HP:0012373	Abnormal eye physiology	10743	RAI1	OMIM:182290
HP:0012373	Abnormal eye physiology	10522	DEAF1	ORPHA:819
HP:0012373	Abnormal eye physiology	6662	SOX9	OMIM:114290
HP:0012373	Abnormal eye physiology	7102	TSPAN7	OMIM:300210
HP:0012373	Abnormal eye physiology	4036	LRP2	ORPHA:2143
HP:0012373	Abnormal eye physiology	4853	NOTCH2	ORPHA:955
HP:0012373	Abnormal eye physiology	2615	LRRC32	OMIM:619074
HP:0012373	Abnormal eye physiology	8419	BFSP2	OMIM:611597
HP:0012373	Abnormal eye physiology	1303	COL12A1	ORPHA:536516
HP:0012373	Abnormal eye physiology	92002	CCNQ	ORPHA:140952
HP:0012373	Abnormal eye physiology	182	JAG1	OMIM:118450
HP:0012373	Abnormal eye physiology	171023	ASXL1	OMIM:605039
HP:0012373	Abnormal eye physiology	79228	THOC6	OMIM:613680
HP:0012373	Abnormal eye physiology	1413	CRYBA4	ORPHA:1377
HP:0012373	Abnormal eye physiology	1415	CRYBB2	ORPHA:1377
HP:0012373	Abnormal eye physiology	1414	CRYBB1	ORPHA:1377
HP:0012373	Abnormal eye physiology	1421	CRYGD	ORPHA:1377
HP:0012373	Abnormal eye physiology	7407	VARS1	OMIM:617802
HP:0012373	Abnormal eye physiology	1288	COL4A6	ORPHA:1018
HP:0012373	Abnormal eye physiology	1287	COL4A5	ORPHA:1018
HP:0012373	Abnormal eye physiology	1287	COL4A5	OMIM:301050
HP:0012373	Abnormal eye physiology	23291	FBXW11	OMIM:618914
HP:0012373	Abnormal eye physiology	55033	FKBP14	OMIM:614557
HP:0012373	Abnormal eye physiology	55033	FKBP14	ORPHA:300179
HP:0012373	Abnormal eye physiology	54974	THG1L	OMIM:618800
HP:0012373	Abnormal eye physiology	8985	PLOD3	OMIM:612394
HP:0012373	Abnormal eye physiology	7874	USP7	ORPHA:500055
HP:0012373	Abnormal eye physiology	23545	ATP6V0A2	OMIM:219200
HP:0012373	Abnormal eye physiology	23630	KCNE5	ORPHA:86818
HP:0012373	Abnormal eye physiology	2182	ACSL4	ORPHA:86818
HP:0012373	Abnormal eye physiology	9949	AMMECR1	ORPHA:86818
HP:0012373	Abnormal eye physiology	113246	C12orf57	OMIM:218340
HP:0012373	Abnormal eye physiology	8241	RBM10	ORPHA:2886
HP:0012373	Abnormal eye physiology	54802	TRIT1	OMIM:617873
HP:0012373	Abnormal eye physiology	170692	ADAMTS18	OMIM:615458
HP:0012373	Abnormal eye physiology	1285	COL4A3	OMIM:104200
HP:0012373	Abnormal eye physiology	9203	ZMYM3	OMIM:301111
HP:0012373	Abnormal eye physiology	1968	EIF2S3	OMIM:300148
HP:0012373	Abnormal eye physiology	6567	SLC16A2	OMIM:300523
HP:0012373	Abnormal eye physiology	1600	DAB1	ORPHA:363710
HP:0012373	Abnormal eye physiology	5538	PPT1	OMIM:256730
HP:0012373	Abnormal eye physiology	92482	BBIP1	ORPHA:110
HP:0012373	Abnormal eye physiology	11020	IFT27	ORPHA:110
HP:0012373	Abnormal eye physiology	51057	WDPCP	ORPHA:110
HP:0012373	Abnormal eye physiology	132320	SCLT1	ORPHA:110
HP:0012373	Abnormal eye physiology	27241	BBS9	ORPHA:110
HP:0012373	Abnormal eye physiology	84984	CEP19	ORPHA:110
HP:0012373	Abnormal eye physiology	22954	TRIM32	ORPHA:110
HP:0012373	Abnormal eye physiology	79738	BBS10	ORPHA:110
HP:0012373	Abnormal eye physiology	585	BBS4	ORPHA:110
HP:0012373	Abnormal eye physiology	8195	MKKS	ORPHA:110
HP:0012373	Abnormal eye physiology	55212	BBS7	ORPHA:110
HP:0012373	Abnormal eye physiology	166379	BBS12	ORPHA:110
HP:0012373	Abnormal eye physiology	129880	BBS5	ORPHA:110
HP:0012373	Abnormal eye physiology	4512	MT-CO1	ORPHA:104
HP:0012373	Abnormal eye physiology	4514	MT-CO3	ORPHA:104
HP:0012373	Abnormal eye physiology	4519	MT-CYB	ORPHA:104
HP:0012373	Abnormal eye physiology	4539	MT-ND4L	ORPHA:104
HP:0012373	Abnormal eye physiology	8566	PDXK	OMIM:618511
HP:0012373	Abnormal eye physiology	84816	RTN4IP1	OMIM:616732
HP:0012373	Abnormal eye physiology	611	OPN1SW	OMIM:190900
HP:0012373	Abnormal eye physiology	54832	VPS13C	ORPHA:2828
HP:0012373	Abnormal eye physiology	11315	PARK7	ORPHA:2828
HP:0012373	Abnormal eye physiology	27429	HTRA2	ORPHA:2828
HP:0012373	Abnormal eye physiology	120892	LRRK2	ORPHA:2828
HP:0012373	Abnormal eye physiology	9829	DNAJC6	ORPHA:2828
HP:0012373	Abnormal eye physiology	6622	SNCA	ORPHA:2828
HP:0012373	Abnormal eye physiology	5420	PODXL	ORPHA:2828
HP:0012373	Abnormal eye physiology	65018	PINK1	ORPHA:2828
HP:0012373	Abnormal eye physiology	5071	PRKN	ORPHA:2828
HP:0012373	Abnormal eye physiology	9927	MFN2	OMIM:601152
HP:0012373	Abnormal eye physiology	356	FASLG	ORPHA:3261
HP:0012373	Abnormal eye physiology	843	CASP10	ORPHA:3261
HP:0012373	Abnormal eye physiology	331	XIAP	ORPHA:538934
HP:0012373	Abnormal eye physiology	130340	AP1S3	ORPHA:247353
HP:0012373	Abnormal eye physiology	26525	IL36RN	ORPHA:247353
HP:0012373	Abnormal eye physiology	939	CD27	OMIM:615122
HP:0012373	Abnormal eye physiology	3662	IRF4	ORPHA:3452
HP:0012373	Abnormal eye physiology	2859	GPR35	ORPHA:171
HP:0012373	Abnormal eye physiology	10507	SEMA4D	ORPHA:171
HP:0012373	Abnormal eye physiology	4485	MST1	ORPHA:171
HP:0012373	Abnormal eye physiology	641	BLM	ORPHA:125
HP:0012373	Abnormal eye physiology	7837	PXDN	OMIM:269400
HP:0012373	Abnormal eye physiology	79796	ALG9	OMIM:608776
HP:0012373	Abnormal eye physiology	79796	ALG9	ORPHA:79328
HP:0012373	Abnormal eye physiology	1291	COL6A1	ORPHA:75840
HP:0012373	Abnormal eye physiology	1293	COL6A3	ORPHA:75840
HP:0012373	Abnormal eye physiology	388015	RTL1	ORPHA:254528
HP:0012373	Abnormal eye physiology	8788	DLK1	ORPHA:254528
HP:0012373	Abnormal eye physiology	55384	MEG3	ORPHA:254528
HP:0012373	Abnormal eye physiology	9630	GNA14	ORPHA:1063
HP:0012373	Abnormal eye physiology	10484	SEC23A	OMIM:607812
HP:0012373	Abnormal eye physiology	1528	CYB5A	ORPHA:621
HP:0012373	Abnormal eye physiology	471	ATIC	OMIM:608688
HP:0012373	Abnormal eye physiology	23154	NCDN	OMIM:619373
HP:0012373	Abnormal eye physiology	1284	COL4A2	OMIM:614483
HP:0012373	Abnormal eye physiology	547	KIF1A	ORPHA:101010
HP:0012373	Abnormal eye physiology	6658	SOX3	ORPHA:67045
HP:0012373	Abnormal eye physiology	57704	GBA2	ORPHA:352641
HP:0012373	Abnormal eye physiology	11284	PNKP	ORPHA:459033
HP:0012373	Abnormal eye physiology	2395	FXN	ORPHA:95
HP:0012373	Abnormal eye physiology	4311	MME	ORPHA:497764
HP:0012373	Abnormal eye physiology	4311	MME	OMIM:617018
HP:0012373	Abnormal eye physiology	57462	MYORG	OMIM:618317
HP:0012373	Abnormal eye physiology	4564	MT-TH	ORPHA:550
HP:0012373	Abnormal eye physiology	4312	MMP1	ORPHA:79408
HP:0012373	Abnormal eye physiology	8869	ST3GAL5	OMIM:609056
HP:0012373	Abnormal eye physiology	1340	COX6B1	OMIM:619051
HP:0012373	Abnormal eye physiology	9512	PMPCB	OMIM:617954
HP:0012373	Abnormal eye physiology	10342	TFG	OMIM:615658
HP:0012373	Abnormal eye physiology	1509	CTSD	OMIM:610127
HP:0012373	Abnormal eye physiology	80216	ALPK1	OMIM:614979
HP:0012373	Abnormal eye physiology	10319	LAMC3	OMIM:614115
HP:0012373	Abnormal eye physiology	7428	VHL	ORPHA:892
HP:0012373	Abnormal eye physiology	595	CCND1	ORPHA:892
HP:0012373	Abnormal eye physiology	5230	PGK1	OMIM:300653
HP:0012373	Abnormal eye physiology	63916	ELMO2	OMIM:606893
HP:0012373	Abnormal eye physiology	2624	GATA2	ORPHA:228423
HP:0012373	Abnormal eye physiology	7957	EPM2A	OMIM:254780
HP:0012373	Abnormal eye physiology	2639	GCDH	ORPHA:25
HP:0012373	Abnormal eye physiology	3458	IFNG	ORPHA:88
HP:0012373	Abnormal eye physiology	5551	PRF1	ORPHA:88
HP:0012373	Abnormal eye physiology	7012	TERC	ORPHA:88
HP:0012373	Abnormal eye physiology	51119	SBDS	ORPHA:88
HP:0012373	Abnormal eye physiology	7015	TERT	ORPHA:88
HP:0012373	Abnormal eye physiology	4615	MYD88	ORPHA:33226
HP:0012373	Abnormal eye physiology	667	DST	OMIM:614653
HP:0012373	Abnormal eye physiology	90952	ESAM	OMIM:620371
HP:0012373	Abnormal eye physiology	36	ACADSB	OMIM:610006
HP:0012373	Abnormal eye physiology	51651	PTRH2	ORPHA:456312
HP:0012373	Abnormal eye physiology	51651	PTRH2	OMIM:616263
HP:0012373	Abnormal eye physiology	3188	HNRNPH2	OMIM:300986
HP:0012373	Abnormal eye physiology	4088	SMAD3	OMIM:613795
HP:0012373	Abnormal eye physiology	4576	MT-TT	ORPHA:254857
HP:0012373	Abnormal eye physiology	10290	SPEG	ORPHA:169186
HP:0012373	Abnormal eye physiology	10312	TCIRG1	OMIM:259700
HP:0012373	Abnormal eye physiology	100134444	KCNJ18	ORPHA:79102
HP:0012373	Abnormal eye physiology	2556	GABRA3	ORPHA:79102
HP:0012373	Abnormal eye physiology	779	CACNA1S	ORPHA:79102
HP:0012373	Abnormal eye physiology	1822	ATN1	ORPHA:101
HP:0012373	Abnormal eye physiology	4538	MT-ND4	ORPHA:255210
HP:0012373	Abnormal eye physiology	4578	MT-TW	ORPHA:255210
HP:0012373	Abnormal eye physiology	4577	MT-TV	ORPHA:255210
HP:0012373	Abnormal eye physiology	4540	MT-ND5	ORPHA:255210
HP:0012373	Abnormal eye physiology	4541	MT-ND6	ORPHA:255210
HP:0012373	Abnormal eye physiology	4566	MT-TK	ORPHA:255210
HP:0012373	Abnormal eye physiology	4566	MT-TK	ORPHA:1349
HP:0012373	Abnormal eye physiology	6311	ATXN2	ORPHA:98756
HP:0012373	Abnormal eye physiology	7345	UCHL1	OMIM:615491
HP:0012373	Abnormal eye physiology	23479	ISCU	OMIM:255125
HP:0012373	Abnormal eye physiology	6314	ATXN7	ORPHA:94147
HP:0012373	Abnormal eye physiology	88	ACTN2	OMIM:618654
HP:0012373	Abnormal eye physiology	131377	KLHL40	OMIM:615348
HP:0012373	Abnormal eye physiology	7259	TSPYL1	ORPHA:168593
HP:0012373	Abnormal eye physiology	4513	MT-CO2	OMIM:540000
HP:0012373	Abnormal eye physiology	4511	MT-TC	OMIM:540000
HP:0012373	Abnormal eye physiology	4572	MT-TQ	OMIM:540000
HP:0012373	Abnormal eye physiology	4558	MT-TF	OMIM:540000
HP:0012373	Abnormal eye physiology	83550	GPR101	ORPHA:963
HP:0012373	Abnormal eye physiology	57190	SELENON	ORPHA:2020
HP:0012373	Abnormal eye physiology	3679	ITGA7	ORPHA:2020
HP:0012373	Abnormal eye physiology	9200	HACD1	ORPHA:2020
HP:0012373	Abnormal eye physiology	51776	MAP3K20	ORPHA:2020
HP:0012373	Abnormal eye physiology	27010	TPK1	OMIM:614458
HP:0012373	Abnormal eye physiology	3752	KCND3	ORPHA:98772
HP:0012373	Abnormal eye physiology	4771	NF2	ORPHA:2495
HP:0012373	Abnormal eye physiology	5155	PDGFB	ORPHA:2495
HP:0012373	Abnormal eye physiology	6608	SMO	ORPHA:2495
HP:0012373	Abnormal eye physiology	55739	NAXD	OMIM:618321
HP:0012373	Abnormal eye physiology	203228	C9orf72	OMIM:105550
HP:0012373	Abnormal eye physiology	128989	TANGO2	ORPHA:480864
HP:0012373	Abnormal eye physiology	6687	SPG7	ORPHA:99013
HP:0012373	Abnormal eye physiology	6687	SPG7	OMIM:607259
HP:0012373	Abnormal eye physiology	10280	SIGMAR1	ORPHA:300605
HP:0012373	Abnormal eye physiology	10558	SPTLC1	ORPHA:300605
HP:0012373	Abnormal eye physiology	51271	UBAP1	OMIM:618418
HP:0012373	Abnormal eye physiology	9881	TRANK1	ORPHA:33543
HP:0012373	Abnormal eye physiology	197	AHSG	ORPHA:2850
HP:0012373	Abnormal eye physiology	3694	ITGB6	ORPHA:2850
HP:0012373	Abnormal eye physiology	5111	PCNA	OMIM:615919
HP:0012373	Abnormal eye physiology	5111	PCNA	ORPHA:438134
HP:0012373	Abnormal eye physiology	6720	SREBF1	OMIM:158310
HP:0012373	Abnormal eye physiology	6720	SREBF1	OMIM:619016
HP:0012373	Abnormal eye physiology	162	AP1B1	OMIM:242150
HP:0012373	Abnormal eye physiology	1638	DCT	OMIM:619165
HP:0012373	Abnormal eye physiology	169522	KCNV2	OMIM:610356
HP:0012373	Abnormal eye physiology	200576	PIKFYVE	OMIM:121850
HP:0012373	Abnormal eye physiology	63915	BLOC1S5	OMIM:619172
HP:0012373	Abnormal eye physiology	105371045	PERCC1	ORPHA:92050
HP:0012373	Abnormal eye physiology	64834	ELOVL1	OMIM:618527
HP:0012373	Abnormal eye physiology	3850	KRT3	OMIM:618767
HP:0012373	Abnormal eye physiology	80326	WNT10A	OMIM:257980
HP:0012373	Abnormal eye physiology	80326	WNT10A	OMIM:150400
HP:0012373	Abnormal eye physiology	8546	AP3B1	OMIM:608233
HP:0012373	Abnormal eye physiology	1130	LYST	ORPHA:167
HP:0012373	Abnormal eye physiology	1130	LYST	OMIM:214500
HP:0012373	Abnormal eye physiology	5333	PLCD1	ORPHA:2387
HP:0012373	Abnormal eye physiology	1474	CST6	OMIM:618535
HP:0012373	Abnormal eye physiology	7855	FZD5	OMIM:620731
HP:0012373	Abnormal eye physiology	10804	GJB6	ORPHA:477
HP:0012373	Abnormal eye physiology	10804	GJB6	OMIM:129500
HP:0012373	Abnormal eye physiology	2706	GJB2	ORPHA:477
HP:0012373	Abnormal eye physiology	2706	GJB2	OMIM:148210
HP:0012373	Abnormal eye physiology	343035	RD3	ORPHA:65
HP:0012373	Abnormal eye physiology	10383	TUBB4B	ORPHA:65
HP:0012373	Abnormal eye physiology	10383	TUBB4B	OMIM:617879
HP:0012373	Abnormal eye physiology	10908	PNPLA6	OMIM:215470
HP:0012373	Abnormal eye physiology	1909	EDNRA	OMIM:157300
HP:0012373	Abnormal eye physiology	2099	ESR1	OMIM:157300
HP:0012373	Abnormal eye physiology	7124	TNF	OMIM:157300
HP:0012373	Abnormal eye physiology	5959	RDH5	ORPHA:52427
HP:0012373	Abnormal eye physiology	79803	HPS6	OMIM:614075
HP:0012373	Abnormal eye physiology	3859	KRT12	OMIM:122100
HP:0012373	Abnormal eye physiology	83938	LRMDA	OMIM:615179
HP:0012373	Abnormal eye physiology	404672	GTF2H5	ORPHA:33364
HP:0012373	Abnormal eye physiology	833	CARS1	ORPHA:33364
HP:0012373	Abnormal eye physiology	7737	RNF113A	ORPHA:33364
HP:0012373	Abnormal eye physiology	136647	MPLKIP	ORPHA:33364
HP:0012373	Abnormal eye physiology	6897	TARS1	ORPHA:33364
HP:0012373	Abnormal eye physiology	2071	ERCC3	ORPHA:33364
HP:0012373	Abnormal eye physiology	2071	ERCC3	ORPHA:910
HP:0012373	Abnormal eye physiology	2961	GTF2E2	ORPHA:33364
HP:0012373	Abnormal eye physiology	5429	POLH	ORPHA:90342
HP:0012373	Abnormal eye physiology	5429	POLH	OMIM:278750
HP:0012373	Abnormal eye physiology	7507	XPA	ORPHA:910
HP:0012373	Abnormal eye physiology	7508	XPC	ORPHA:910
HP:0012373	Abnormal eye physiology	7508	XPC	OMIM:278720
HP:0012373	Abnormal eye physiology	1643	DDB2	ORPHA:910
HP:0012373	Abnormal eye physiology	1643	DDB2	OMIM:278740
HP:0012373	Abnormal eye physiology	149233	IL23R	ORPHA:117
HP:0012373	Abnormal eye physiology	3586	IL10	ORPHA:117
HP:0012373	Abnormal eye physiology	4210	MEFV	ORPHA:117
HP:0012373	Abnormal eye physiology	1230	CCR1	ORPHA:117
HP:0012373	Abnormal eye physiology	3592	IL12A	ORPHA:117
HP:0012373	Abnormal eye physiology	101928376	IL12A-AS1	ORPHA:117
HP:0012373	Abnormal eye physiology	7099	TLR4	ORPHA:117
HP:0012373	Abnormal eye physiology	3459	IFNGR1	ORPHA:117
HP:0012373	Abnormal eye physiology	720	C4A	ORPHA:117
HP:0012373	Abnormal eye physiology	337867	UBAC2	ORPHA:117
HP:0012373	Abnormal eye physiology	51752	ERAP1	ORPHA:117
HP:0012373	Abnormal eye physiology	8302	KLRC4	ORPHA:117
HP:0012373	Abnormal eye physiology	114902	C1QTNF5	ORPHA:67042
HP:0012373	Abnormal eye physiology	11190	CEP250	OMIM:618358
HP:0012373	Abnormal eye physiology	6768	ST14	OMIM:602400
HP:0012373	Abnormal eye physiology	6898	TAT	ORPHA:28378
HP:0012373	Abnormal eye physiology	9445	ITM2B	OMIM:616079
HP:0012373	Abnormal eye physiology	3075	CFH	ORPHA:75376
HP:0012373	Abnormal eye physiology	3426	CFI	ORPHA:75376
HP:0012373	Abnormal eye physiology	3257	HPS1	OMIM:203300
HP:0012373	Abnormal eye physiology	27349	MCAT	OMIM:620583
HP:0012373	Abnormal eye physiology	22943	DKK1	ORPHA:268882
HP:0012373	Abnormal eye physiology	8139	GAN	OMIM:256850
HP:0012373	Abnormal eye physiology	3030	HADHA	ORPHA:5
HP:0012373	Abnormal eye physiology	23155	CLCC1	OMIM:609913
HP:0012373	Abnormal eye physiology	9699	RIMS2	OMIM:618970
HP:0012373	Abnormal eye physiology	3852	KRT5	ORPHA:79396
HP:0012373	Abnormal eye physiology	3861	KRT14	ORPHA:79396
HP:0012373	Abnormal eye physiology	55733	HHAT	ORPHA:1422
HP:0012373	Abnormal eye physiology	22931	RAB18	OMIM:614222
HP:0012373	Abnormal eye physiology	84876	ORAI1	ORPHA:3204
HP:0012373	Abnormal eye physiology	84876	ORAI1	OMIM:615883
HP:0012373	Abnormal eye physiology	23268	DNMBP	OMIM:618415
HP:0012373	Abnormal eye physiology	2782	GNB1	OMIM:616973
HP:0012373	Abnormal eye physiology	4361	MRE11	ORPHA:251347
HP:0012373	Abnormal eye physiology	255928	SYT14	ORPHA:284271
HP:0012373	Abnormal eye physiology	11128	POLR3A	OMIM:607694
HP:0012373	Abnormal eye physiology	11128	POLR3A	ORPHA:447896
HP:0012373	Abnormal eye physiology	55703	POLR3B	OMIM:607694
HP:0012373	Abnormal eye physiology	80144	FRAS1	ORPHA:2052
HP:0012373	Abnormal eye physiology	80144	FRAS1	OMIM:219000
HP:0012373	Abnormal eye physiology	23426	GRIP1	ORPHA:2052
HP:0012373	Abnormal eye physiology	51569	UFM1	OMIM:617899
HP:0012373	Abnormal eye physiology	54820	NDE1	ORPHA:2177
HP:0012373	Abnormal eye physiology	3073	HEXA	OMIM:272800
HP:0012373	Abnormal eye physiology	3074	HEXB	OMIM:268800
HP:0012373	Abnormal eye physiology	2720	GLB1	ORPHA:79255
HP:0012373	Abnormal eye physiology	27316	RBMX	OMIM:309555
HP:0012373	Abnormal eye physiology	5627	PROS1	OMIM:614514
HP:0012373	Abnormal eye physiology	2811	GP1BA	ORPHA:853
HP:0012373	Abnormal eye physiology	3674	ITGA2B	ORPHA:853
HP:0012373	Abnormal eye physiology	3673	ITGA2	ORPHA:853
HP:0012373	Abnormal eye physiology	135228	CD109	ORPHA:853
HP:0012373	Abnormal eye physiology	3690	ITGB3	ORPHA:853
HP:0012373	Abnormal eye physiology	80025	PANK2	ORPHA:216873
HP:0012373	Abnormal eye physiology	80025	PANK2	ORPHA:216866
HP:0012373	Abnormal eye physiology	1967	EIF2B1	OMIM:603896
HP:0012373	Abnormal eye physiology	3736	KCNA1	OMIM:160120
HP:0012373	Abnormal eye physiology	3736	KCNA1	ORPHA:37612
HP:0012373	Abnormal eye physiology	335	APOA1	ORPHA:425
HP:0012373	Abnormal eye physiology	6559	SLC12A3	OMIM:263800
HP:0012373	Abnormal eye physiology	6559	SLC12A3	ORPHA:358
HP:0012373	Abnormal eye physiology	1188	CLCNKB	ORPHA:358
HP:0012373	Abnormal eye physiology	117581	TWIST2	ORPHA:1807
HP:0012373	Abnormal eye physiology	2138	EYA1	OMIM:113650
HP:0012373	Abnormal eye physiology	6495	SIX1	OMIM:113650
HP:0012373	Abnormal eye physiology	85446	ZFHX2	OMIM:147430
HP:0012373	Abnormal eye physiology	6335	SCN9A	OMIM:167400
HP:0012373	Abnormal eye physiology	197131	UBR1	ORPHA:2315
HP:0012373	Abnormal eye physiology	60529	ALX4	OMIM:613451
HP:0012373	Abnormal eye physiology	59335	PRDM12	OMIM:616488
HP:0012373	Abnormal eye physiology	4524	MTHFR	ORPHA:395
HP:0012373	Abnormal eye physiology	7360	UGP2	OMIM:618744
HP:0012373	Abnormal eye physiology	1786	DNMT1	ORPHA:314404
HP:0012373	Abnormal eye physiology	5354	PLP1	ORPHA:99015
HP:0012373	Abnormal eye physiology	5354	PLP1	OMIM:312080
HP:0012373	Abnormal eye physiology	5354	PLP1	OMIM:312920
HP:0012373	Abnormal eye physiology	5354	PLP1	ORPHA:280210
HP:0012373	Abnormal eye physiology	5354	PLP1	ORPHA:280224
HP:0012373	Abnormal eye physiology	5354	PLP1	ORPHA:280219
HP:0012373	Abnormal eye physiology	5354	PLP1	ORPHA:280234
HP:0012373	Abnormal eye physiology	5354	PLP1	ORPHA:280229
HP:0012373	Abnormal eye physiology	79868	ALG13	ORPHA:324422
HP:0012373	Abnormal eye physiology	54543	TOMM7	OMIM:620601
HP:0012373	Abnormal eye physiology	857	CAV1	OMIM:606721
HP:0012373	Abnormal eye physiology	5297	PI4KA	OMIM:619621
HP:0012373	Abnormal eye physiology	5297	PI4KA	ORPHA:98889
HP:0012373	Abnormal eye physiology	5297	PI4KA	OMIM:619708
HP:0012373	Abnormal eye physiology	26258	BLOC1S6	OMIM:614171
HP:0012373	Abnormal eye physiology	57231	SNX14	OMIM:616354
HP:0012373	Abnormal eye physiology	57231	SNX14	ORPHA:397709
HP:0012373	Abnormal eye physiology	5833	PCYT2	OMIM:618770
HP:0012373	Abnormal eye physiology	8550	MAPKAPK5	OMIM:619869
HP:0012373	Abnormal eye physiology	788	SLC25A20	ORPHA:159
HP:0012373	Abnormal eye physiology	3982	LIM2	OMIM:615277
HP:0012373	Abnormal eye physiology	1615	DARS1	OMIM:615281
HP:0012373	Abnormal eye physiology	146227	BEAN1	ORPHA:217012
HP:0012373	Abnormal eye physiology	146227	BEAN1	OMIM:117210
HP:0012373	Abnormal eye physiology	5917	RARS1	OMIM:616140
HP:0012373	Abnormal eye physiology	5917	RARS1	ORPHA:438114
HP:0012373	Abnormal eye physiology	6533	SLC6A6	OMIM:145350
HP:0012373	Abnormal eye physiology	5654	HTRA1	OMIM:600142
HP:0012373	Abnormal eye physiology	2583	B4GALNT1	OMIM:609195
HP:0012373	Abnormal eye physiology	1642	DDB1	OMIM:619426
HP:0012373	Abnormal eye physiology	8473	OGT	OMIM:300997
HP:0012373	Abnormal eye physiology	6809	STX3	OMIM:619446
HP:0012373	Abnormal eye physiology	427	ASAH1	ORPHA:333
HP:0012373	Abnormal eye physiology	6297	SALL2	OMIM:216820
HP:0012373	Abnormal eye physiology	4548	MTR	OMIM:250940
HP:0012373	Abnormal eye physiology	3028	HSD17B10	ORPHA:391428
HP:0012373	Abnormal eye physiology	3028	HSD17B10	OMIM:300438
HP:0012373	Abnormal eye physiology	50801	KCNK4	OMIM:618381
HP:0012373	Abnormal eye physiology	9373	PLAA	ORPHA:521426
HP:0012373	Abnormal eye physiology	9373	PLAA	OMIM:617527
HP:0012373	Abnormal eye physiology	7284	TUFM	OMIM:610678
HP:0012373	Abnormal eye physiology	63899	NSUN3	OMIM:619012
HP:0012373	Abnormal eye physiology	81615	TMEM163	OMIM:620243
HP:0012373	Abnormal eye physiology	284361	EMC10	OMIM:619264
HP:0012373	Abnormal eye physiology	79581	SLC52A2	OMIM:614707
HP:0012373	Abnormal eye physiology	80055	PGAP1	OMIM:615802
HP:0012373	Abnormal eye physiology	1185	CLCN6	OMIM:619173
HP:0012373	Abnormal eye physiology	64207	IRF2BPL	OMIM:618088
HP:0012373	Abnormal eye physiology	8792	TNFRSF11A	OMIM:612301
HP:0012373	Abnormal eye physiology	8792	TNFRSF11A	ORPHA:1782
HP:0012373	Abnormal eye physiology	9570	GOSR2	OMIM:620166
HP:0012373	Abnormal eye physiology	54675	CRLS1	OMIM:620167
HP:0012373	Abnormal eye physiology	3475	IFRD1	ORPHA:98771
HP:0012373	Abnormal eye physiology	8379	MAD1L1	OMIM:620189
HP:0012373	Abnormal eye physiology	9101	USP8	ORPHA:401795
HP:0012373	Abnormal eye physiology	55149	MTPAP	OMIM:613672
HP:0012373	Abnormal eye physiology	55149	MTPAP	ORPHA:254343
HP:0012373	Abnormal eye physiology	644096	SDHAF1	ORPHA:3208
HP:0012373	Abnormal eye physiology	200403	VWA3B	OMIM:616948
HP:0012373	Abnormal eye physiology	3166	HMX1	OMIM:612109
HP:0012373	Abnormal eye physiology	54704	PDP1	OMIM:608782
HP:0012373	Abnormal eye physiology	79644	SRD5A3	OMIM:612379
HP:0012373	Abnormal eye physiology	79644	SRD5A3	ORPHA:324737
HP:0012373	Abnormal eye physiology	23732	FRRS1L	OMIM:616981
HP:0012373	Abnormal eye physiology	10560	SLC19A2	OMIM:249270
HP:0012373	Abnormal eye physiology	3796	KIF2A	OMIM:615411
HP:0012373	Abnormal eye physiology	9750	RIPOR2	OMIM:616515
HP:0012373	Abnormal eye physiology	8270	LAGE3	OMIM:301006
HP:0012373	Abnormal eye physiology	131669	UROC1	OMIM:276880
HP:0012373	Abnormal eye physiology	64857	PLEKHG2	OMIM:616763
HP:0012373	Abnormal eye physiology	84628	NTNG2	OMIM:618718
HP:0012373	Abnormal eye physiology	8884	SLC5A6	OMIM:618973
HP:0012373	Abnormal eye physiology	5274	SERPINI1	OMIM:604218
HP:0012373	Abnormal eye physiology	6873	TAF2	OMIM:615599
HP:0012373	Abnormal eye physiology	10060	ABCC9	OMIM:619719
HP:0012373	Abnormal eye physiology	10559	SLC35A1	OMIM:603585
HP:0012373	Abnormal eye physiology	8560	DEGS1	OMIM:618404
HP:0012373	Abnormal eye physiology	10715	CERS1	OMIM:616230
HP:0012373	Abnormal eye physiology	1947	EFNB1	OMIM:304110
HP:0012373	Abnormal eye physiology	54914	FOCAD	OMIM:619991
HP:0012373	Abnormal eye physiology	54902	TTC19	OMIM:615157
HP:0012373	Abnormal eye physiology	2550	GABBR1	OMIM:620502
HP:0012373	Abnormal eye physiology	286	ANK1	ORPHA:251066
HP:0012373	Abnormal eye physiology	4669	NAGLU	OMIM:616491
HP:0012373	Abnormal eye physiology	1356	CP	ORPHA:48818
HP:0012373	Abnormal eye physiology	6683	SPAST	OMIM:182601
HP:0012373	Abnormal eye physiology	23189	KANK1	OMIM:612900
HP:0012373	Abnormal eye physiology	79053	ALG8	ORPHA:79325
HP:0012373	Abnormal eye physiology	81570	CLPB	OMIM:616271
HP:0012373	Abnormal eye physiology	81570	CLPB	ORPHA:445038
HP:0012373	Abnormal eye physiology	1892	ECHS1	OMIM:616277
HP:0012373	Abnormal eye physiology	5587	PRKD1	OMIM:617364
HP:0012373	Abnormal eye physiology	23111	SPART	OMIM:275900
HP:0012373	Abnormal eye physiology	51728	POLR3K	OMIM:619310
HP:0012373	Abnormal eye physiology	85476	GFM1	OMIM:609060
HP:0012373	Abnormal eye physiology	6548	SLC9A1	OMIM:616291
HP:0012373	Abnormal eye physiology	56521	DNAJC12	OMIM:617384
HP:0012373	Abnormal eye physiology	29920	PYCR2	ORPHA:481152
HP:0012373	Abnormal eye physiology	29920	PYCR2	OMIM:616420
HP:0012373	Abnormal eye physiology	8635	RNASET2	OMIM:612951
HP:0012373	Abnormal eye physiology	64864	RFX7	OMIM:620330
HP:0012373	Abnormal eye physiology	55229	PANK4	OMIM:619593
HP:0012373	Abnormal eye physiology	777	CACNA1E	OMIM:618285
HP:0012373	Abnormal eye physiology	55074	OXR1	OMIM:213000
HP:0012373	Abnormal eye physiology	3735	KARS1	OMIM:619147
HP:0012373	Abnormal eye physiology	23769	FLRT1	ORPHA:320406
HP:0012373	Abnormal eye physiology	64837	KLC2	ORPHA:320406
HP:0012373	Abnormal eye physiology	64837	KLC2	OMIM:609541
HP:0012373	Abnormal eye physiology	1119	CHKA	OMIM:620023
HP:0012373	Abnormal eye physiology	8496	PPFIBP1	OMIM:620024
HP:0012373	Abnormal eye physiology	55037	PTCD3	OMIM:619057
HP:0012373	Abnormal eye physiology	26090	ABHD12	OMIM:612674
HP:0012373	Abnormal eye physiology	4338	MOCS2	OMIM:252160
HP:0012373	Abnormal eye physiology	27286	SRPX2	ORPHA:98889
HP:0012373	Abnormal eye physiology	26227	PHGDH	OMIM:601815
HP:0012373	Abnormal eye physiology	85021	REPS1	OMIM:617916
HP:0012373	Abnormal eye physiology	1959	EGR2	OMIM:145900
HP:0012373	Abnormal eye physiology	57716	PRX	OMIM:145900
HP:0012373	Abnormal eye physiology	9420	CYP7B1	ORPHA:100986
HP:0012373	Abnormal eye physiology	9420	CYP7B1	OMIM:270800
HP:0012373	Abnormal eye physiology	27249	MMADHC	OMIM:277410
HP:0012373	Abnormal eye physiology	6609	SMPD1	ORPHA:77293
HP:0012373	Abnormal eye physiology	57599	WDR48	ORPHA:401800
HP:0012373	Abnormal eye physiology	1641	DCX	OMIM:300067
HP:0012373	Abnormal eye physiology	9419	CRIPT	OMIM:615789
HP:0012373	Abnormal eye physiology	58494	JAM2	OMIM:618824
HP:0012373	Abnormal eye physiology	4337	MOCS1	OMIM:252150
HP:0012373	Abnormal eye physiology	22934	RPIA	OMIM:608611
HP:0012373	Abnormal eye physiology	4796	TONSL	ORPHA:93357
HP:0012373	Abnormal eye physiology	2670	GFAP	ORPHA:363722
HP:0012373	Abnormal eye physiology	100506658	OCLN	OMIM:251290
HP:0012373	Abnormal eye physiology	9197	SLC33A1	OMIM:614482
HP:0012373	Abnormal eye physiology	1203	CLN5	OMIM:256731
HP:0012373	Abnormal eye physiology	22868	FASTKD2	OMIM:618855
HP:0012373	Abnormal eye physiology	55775	TDP1	ORPHA:94124
HP:0012373	Abnormal eye physiology	1938	EEF2	OMIM:609306
HP:0012373	Abnormal eye physiology	1938	EEF2	ORPHA:101112
HP:0012373	Abnormal eye physiology	57410	SCYL1	ORPHA:466794
HP:0012373	Abnormal eye physiology	26610	ELP4	OMIM:617141
HP:0012373	Abnormal eye physiology	410	ARSA	ORPHA:309271
HP:0012373	Abnormal eye physiology	410	ARSA	ORPHA:309256
HP:0012373	Abnormal eye physiology	410	ARSA	ORPHA:309263
HP:0012373	Abnormal eye physiology	11267	SNF8	OMIM:620784
HP:0012373	Abnormal eye physiology	11267	SNF8	OMIM:620783
HP:0012373	Abnormal eye physiology	8398	PLA2G6	ORPHA:35069
HP:0012373	Abnormal eye physiology	8398	PLA2G6	OMIM:256600
HP:0012373	Abnormal eye physiology	25782	RAB3GAP2	ORPHA:2510
HP:0012373	Abnormal eye physiology	7841	MOGS	ORPHA:79330
HP:0012373	Abnormal eye physiology	3908	LAMA2	ORPHA:258
HP:0012373	Abnormal eye physiology	4791	NFKB2	ORPHA:293978
HP:0012373	Abnormal eye physiology	23317	DNAJC13	ORPHA:411602
HP:0012373	Abnormal eye physiology	1981	EIF4G1	ORPHA:411602
HP:0012373	Abnormal eye physiology	55737	VPS35	ORPHA:411602
HP:0012373	Abnormal eye physiology	26058	GIGYF2	ORPHA:411602
HP:0012373	Abnormal eye physiology	4665	NAB2	ORPHA:2126
HP:0012373	Abnormal eye physiology	6778	STAT6	ORPHA:2126
HP:0012373	Abnormal eye physiology	6095	RORA	OMIM:618060
HP:0012373	Abnormal eye physiology	2895	GRID2	OMIM:616204
HP:0012373	Abnormal eye physiology	53371	NUP54	OMIM:620427
HP:0012373	Abnormal eye physiology	253738	EBF3	ORPHA:96148
HP:0012373	Abnormal eye physiology	613	BCR	ORPHA:261330
HP:0012373	Abnormal eye physiology	1399	CRKL	ORPHA:261330
HP:0012373	Abnormal eye physiology	51010	EXOSC3	OMIM:614678
HP:0012373	Abnormal eye physiology	84992	PIGY	ORPHA:247262
HP:0012373	Abnormal eye physiology	84720	PIGO	ORPHA:247262
HP:0012373	Abnormal eye physiology	93210	PGAP3	ORPHA:247262
HP:0012373	Abnormal eye physiology	284098	PIGW	ORPHA:247262
HP:0012373	Abnormal eye physiology	27315	PGAP2	ORPHA:247262
HP:0012373	Abnormal eye physiology	55650	PIGV	ORPHA:247262
HP:0012373	Abnormal eye physiology	8913	CACNA1G	OMIM:618087
HP:0012373	Abnormal eye physiology	215	ABCD1	ORPHA:139396
HP:0012373	Abnormal eye physiology	3756	KCNH1	OMIM:135500
HP:0012373	Abnormal eye physiology	114034	TOE1	OMIM:614969
HP:0012373	Abnormal eye physiology	23203	PMPCA	ORPHA:1170
HP:0012373	Abnormal eye physiology	84342	COG8	OMIM:611182
HP:0012373	Abnormal eye physiology	1200	TPP1	OMIM:609270
HP:0012373	Abnormal eye physiology	1200	TPP1	ORPHA:284324
HP:0012373	Abnormal eye physiology	54840	APTX	OMIM:208920
HP:0012373	Abnormal eye physiology	10382	TUBB4A	OMIM:612438
HP:0012373	Abnormal eye physiology	8363	H4C11	OMIM:619759
HP:0012373	Abnormal eye physiology	55280	CWF19L1	OMIM:616127
HP:0012373	Abnormal eye physiology	55280	CWF19L1	ORPHA:453521
HP:0012373	Abnormal eye physiology	23533	PIK3R5	ORPHA:64753
HP:0012373	Abnormal eye physiology	23533	PIK3R5	OMIM:615217
HP:0012373	Abnormal eye physiology	23064	SETX	ORPHA:64753
HP:0012373	Abnormal eye physiology	23064	SETX	OMIM:606002
HP:0012373	Abnormal eye physiology	6507	SLC1A3	ORPHA:2131
HP:0012373	Abnormal eye physiology	7305	TYROBP	ORPHA:2770
HP:0012373	Abnormal eye physiology	8733	GPAA1	ORPHA:529665
HP:0012373	Abnormal eye physiology	22983	MAST1	OMIM:618273
HP:0012373	Abnormal eye physiology	79152	FA2H	ORPHA:171629
HP:0012373	Abnormal eye physiology	284217	LAMA1	OMIM:615960
HP:0012373	Abnormal eye physiology	284217	LAMA1	ORPHA:370022
HP:0012373	Abnormal eye physiology	7515	XRCC1	OMIM:617633
HP:0012373	Abnormal eye physiology	23040	MYT1L	ORPHA:647799
HP:0012373	Abnormal eye physiology	283450	HECTD4	OMIM:620250
HP:0012373	Abnormal eye physiology	4598	MVK	OMIM:260920
HP:0012373	Abnormal eye physiology	2677	GGCX	ORPHA:436274
HP:0012373	Abnormal eye physiology	23078	VWA8	OMIM:620422
HP:0012373	Abnormal eye physiology	80270	HSD3B7	ORPHA:79301
HP:0012373	Abnormal eye physiology	83715	ESPN	OMIM:618632
HP:0012373	Abnormal eye physiology	83715	ESPN	ORPHA:231169
HP:0012373	Abnormal eye physiology	8882	ZPR1	OMIM:619321
HP:0012373	Abnormal eye physiology	28982	FLVCR1	ORPHA:88628
HP:0012373	Abnormal eye physiology	28982	FLVCR1	OMIM:609033
HP:0012373	Abnormal eye physiology	51109	RDH11	OMIM:616108
HP:0012373	Abnormal eye physiology	7123	CLEC3B	OMIM:619977
HP:0012373	Abnormal eye physiology	4647	MYO7A	ORPHA:231178
HP:0012373	Abnormal eye physiology	4647	MYO7A	ORPHA:231169
HP:0012373	Abnormal eye physiology	25861	WHRN	ORPHA:231178
HP:0012373	Abnormal eye physiology	25861	WHRN	OMIM:611383
HP:0012373	Abnormal eye physiology	84059	ADGRV1	ORPHA:231178
HP:0012373	Abnormal eye physiology	22901	ARSG	OMIM:618144
HP:0012373	Abnormal eye physiology	22901	ARSG	ORPHA:231183
HP:0012373	Abnormal eye physiology	10283	CWC27	OMIM:250410
HP:0012373	Abnormal eye physiology	10283	CWC27	ORPHA:166035
HP:0012373	Abnormal eye physiology	25839	COG4	OMIM:618150
HP:0012373	Abnormal eye physiology	9371	KIF3B	OMIM:618955
HP:0012373	Abnormal eye physiology	4575	MT-TS2	ORPHA:231183
HP:0012373	Abnormal eye physiology	112752	IFT43	OMIM:617871
HP:0012373	Abnormal eye physiology	8565	YARS1	OMIM:619418
HP:0012373	Abnormal eye physiology	10083	USH1C	ORPHA:231169
HP:0012373	Abnormal eye physiology	124590	USH1G	ORPHA:231169
HP:0012373	Abnormal eye physiology	10518	CIB2	ORPHA:231169
HP:0012373	Abnormal eye physiology	4327	MMP19	OMIM:611543
HP:0012373	Abnormal eye physiology	51095	TRNT1	OMIM:616959
HP:0012373	Abnormal eye physiology	6786	STIM1	OMIM:160565
HP:0012373	Abnormal eye physiology	123624	AGBL1	ORPHA:98974
HP:0012373	Abnormal eye physiology	92935	MARS2	OMIM:611390
HP:0012373	Abnormal eye physiology	92935	MARS2	ORPHA:314603
HP:0012373	Abnormal eye physiology	1355	COX15	OMIM:615119
HP:0012373	Abnormal eye physiology	347734	SLC35B2	OMIM:620269
HP:0012373	Abnormal eye physiology	3417	IDH1	ORPHA:99646
HP:0012373	Abnormal eye physiology	4929	NR4A2	ORPHA:98808
HP:0012373	Abnormal eye physiology	3615	IMPDH2	ORPHA:98808
HP:0012373	Abnormal eye physiology	6182	MRPL12	OMIM:618951
HP:0012373	Abnormal eye physiology	9474	ATG5	OMIM:617584
HP:0012373	Abnormal eye physiology	1804	DPP6	ORPHA:2514
HP:0012373	Abnormal eye physiology	9469	CHST3	OMIM:245600
HP:0012373	Abnormal eye physiology	26229	B3GAT3	OMIM:245600
HP:0012373	Abnormal eye physiology	285590	SH3PXD2B	OMIM:249420
HP:0012373	Abnormal eye physiology	389692	MAFA	OMIM:147630
HP:0012373	Abnormal eye physiology	6736	SRY	ORPHA:1772
HP:0012373	Abnormal eye physiology	169792	GLIS3	OMIM:610199
HP:0012373	Abnormal eye physiology	3141	HLCS	ORPHA:79242
HP:0012373	Abnormal eye physiology	54941	RNF125	OMIM:616260
HP:0012373	Abnormal eye physiology	5965	RECQL	OMIM:620370
HP:0012373	Abnormal eye physiology	4069	LYZ	OMIM:620658
HP:0012373	Abnormal eye physiology	7066	THPO	ORPHA:71493
HP:0012373	Abnormal eye physiology	84196	USP48	ORPHA:96253
HP:0012373	Abnormal eye physiology	2908	NR3C1	ORPHA:96253
HP:0012373	Abnormal eye physiology	5582	PRKCG	ORPHA:98763
HP:0012373	Abnormal eye physiology	81790	RNF170	OMIM:619686
HP:0012373	Abnormal eye physiology	54664	TMEM106B	OMIM:617964
HP:0012373	Abnormal eye physiology	5981	RFC1	OMIM:614575
HP:0012373	Abnormal eye physiology	2705	GJB1	ORPHA:1175
HP:0012373	Abnormal eye physiology	9711	RUBCN	OMIM:615705
HP:0012373	Abnormal eye physiology	9711	RUBCN	ORPHA:404499
HP:0012373	Abnormal eye physiology	91452	ACBD5	OMIM:618863
HP:0012373	Abnormal eye physiology	1182	CLCN3	OMIM:619512
HP:0012373	Abnormal eye physiology	55628	ZNF407	OMIM:619557
HP:0012373	Abnormal eye physiology	118987	PDZD8	OMIM:620021
HP:0012373	Abnormal eye physiology	526	ATP6V1B2	ORPHA:79500
HP:0012373	Abnormal eye physiology	3767	KCNJ11	ORPHA:79134
HP:0012373	Abnormal eye physiology	3767	KCNJ11	ORPHA:99885
HP:0012373	Abnormal eye physiology	3767	KCNJ11	OMIM:618856
HP:0012373	Abnormal eye physiology	6833	ABCC8	ORPHA:79134
HP:0012373	Abnormal eye physiology	6833	ABCC8	ORPHA:99885
HP:0012373	Abnormal eye physiology	5053	PAH	ORPHA:2209
HP:0012373	Abnormal eye physiology	6774	STAT3	ORPHA:99885
HP:0012373	Abnormal eye physiology	2645	GCK	ORPHA:99885
HP:0012373	Abnormal eye physiology	3651	PDX1	ORPHA:99885
HP:0012373	Abnormal eye physiology	3630	INS	ORPHA:99885
HP:0012373	Abnormal eye physiology	7298	TYMS	OMIM:620040
HP:0012373	Abnormal eye physiology	165	AEBP1	OMIM:618000
HP:0012373	Abnormal eye physiology	165	AEBP1	ORPHA:536532
HP:0012373	Abnormal eye physiology	10087	CERT1	OMIM:616351
HP:0012373	Abnormal eye physiology	5442	POLRMT	OMIM:619743
HP:0012373	Abnormal eye physiology	4858	NOVA2	OMIM:618859
HP:0012373	Abnormal eye physiology	51660	MPC1	OMIM:614741
HP:0012373	Abnormal eye physiology	23095	KIF1B	OMIM:256700
HP:0012373	Abnormal eye physiology	4613	MYCN	ORPHA:635
HP:0012373	Abnormal eye physiology	238	ALK	ORPHA:635
HP:0012373	Abnormal eye physiology	389421	LIN28B	ORPHA:635
HP:0012373	Abnormal eye physiology	4004	LMO1	ORPHA:635
HP:0012373	Abnormal eye physiology	57531	HACE1	ORPHA:635
HP:0012373	Abnormal eye physiology	8929	PHOX2B	ORPHA:635
HP:0012373	Abnormal eye physiology	55503	TRPV6	OMIM:618188
HP:0012373	Abnormal eye physiology	54834	GDAP2	OMIM:618369
HP:0012373	Abnormal eye physiology	22880	MORC2	ORPHA:466768
HP:0012373	Abnormal eye physiology	4646	MYO6	OMIM:607821
HP:0012373	Abnormal eye physiology	83696	TRAPPC9	ORPHA:352530
HP:0012373	Abnormal eye physiology	10749	KIF1C	ORPHA:397946
HP:0012373	Abnormal eye physiology	10749	KIF1C	OMIM:611302
HP:0012373	Abnormal eye physiology	85465	SELENOI	ORPHA:506353
HP:0012373	Abnormal eye physiology	85465	SELENOI	OMIM:618768
HP:0012373	Abnormal eye physiology	55823	VPS11	OMIM:616683
HP:0012373	Abnormal eye physiology	1738	DLD	ORPHA:2394
HP:0012373	Abnormal eye physiology	90167	FRMD7	OMIM:310700
HP:0012373	Abnormal eye physiology	402	ARL2	OMIM:619082
HP:0012373	Abnormal eye physiology	89781	HPS4	OMIM:614073
HP:0012373	Abnormal eye physiology	7867	MAPKAPK3	OMIM:617111
HP:0012373	Abnormal eye physiology	344658	SAMD7	OMIM:620762
HP:0012373	Abnormal eye physiology	113457	TUBA3D	OMIM:617928
HP:0012373	Abnormal eye physiology	406987	MIR204	OMIM:616722
HP:0012373	Abnormal eye physiology	54471	MIEF1	OMIM:620550
HP:0012373	Abnormal eye physiology	201973	PRIMPOL	OMIM:615420
HP:0012373	Abnormal eye physiology	55213	RCBTB1	OMIM:617175
HP:0012373	Abnormal eye physiology	1495	CTNNA1	OMIM:608970
HP:0012373	Abnormal eye physiology	6522	SLC4A2	OMIM:620366
HP:0012373	Abnormal eye physiology	6908	TBP	OMIM:607136
HP:0012373	Abnormal eye physiology	1512	CTSH	ORPHA:2073
HP:0012373	Abnormal eye physiology	5032	P2RY11	ORPHA:2073
HP:0012373	Abnormal eye physiology	4340	MOG	ORPHA:2073
HP:0012373	Abnormal eye physiology	3119	HLA-DQB1	ORPHA:2073
HP:0012373	Abnormal eye physiology	3060	HCRT	ORPHA:2073
HP:0012373	Abnormal eye physiology	22891	ZNF365	ORPHA:2073
HP:0012373	Abnormal eye physiology	7292	TNFSF4	ORPHA:2073
HP:0012373	Abnormal eye physiology	22827	PUF60	ORPHA:508498
HP:0012373	Abnormal eye physiology	116931	MED12L	OMIM:618872
HP:0012373	Abnormal eye physiology	51434	ANAPC7	OMIM:619699
HP:0012373	Abnormal eye physiology	83479	DDX59	OMIM:174300
HP:0012373	Abnormal eye physiology	57539	WDR35	OMIM:613610
HP:0012373	Abnormal eye physiology	3211	HOXB1	OMIM:614744
HP:0012373	Abnormal eye physiology	11043	MID2	OMIM:300928
HP:0012373	Abnormal eye physiology	6650	CAPN15	OMIM:619318
HP:0012373	Abnormal eye physiology	79628	SH3TC2	OMIM:601596
HP:0012373	Abnormal eye physiology	79628	SH3TC2	ORPHA:99949
HP:0012373	Abnormal eye physiology	29968	PSAT1	ORPHA:284417
HP:0012373	Abnormal eye physiology	2562	GABRB3	ORPHA:64280
HP:0012373	Abnormal eye physiology	8912	CACNA1H	ORPHA:64280
HP:0012373	Abnormal eye physiology	135	ADORA2A	ORPHA:363549
HP:0012373	Abnormal eye physiology	7518	XRCC4	OMIM:616541
HP:0012373	Abnormal eye physiology	5048	PAFAH1B1	ORPHA:95232
HP:0012373	Abnormal eye physiology	25814	ATXN10	ORPHA:98761
HP:0012373	Abnormal eye physiology	25814	ATXN10	OMIM:603516
HP:0012373	Abnormal eye physiology	463	ZFHX3	OMIM:600223
HP:0012373	Abnormal eye physiology	5162	PDHB	ORPHA:255138
HP:0012373	Abnormal eye physiology	2512	FTL	ORPHA:157846
HP:0012373	Abnormal eye physiology	26278	SACS	OMIM:270550
HP:0012373	Abnormal eye physiology	3198	HOXA1	OMIM:601536
HP:0012373	Abnormal eye physiology	22854	NTNG1	ORPHA:3095
HP:0012373	Abnormal eye physiology	286053	NSMCE2	ORPHA:436182
HP:0012373	Abnormal eye physiology	726	CAPN5	OMIM:193235
HP:0012373	Abnormal eye physiology	5624	PROC	OMIM:612304
HP:0012373	Abnormal eye physiology	23137	SMC5	OMIM:620185
HP:0012373	Abnormal eye physiology	5309	PITX3	OMIM:107250
HP:0012373	Abnormal eye physiology	4774	NFIA	ORPHA:401986
HP:0012373	Abnormal eye physiology	3295	HSD17B4	OMIM:233400
HP:0012373	Abnormal eye physiology	203547	VMA21	OMIM:310440
HP:0012373	Abnormal eye physiology	11261	CHP1	OMIM:618438
HP:0012373	Abnormal eye physiology	84504	NKX6-2	OMIM:617560
HP:0012373	Abnormal eye physiology	79184	BRCC3	ORPHA:280679
HP:0012373	Abnormal eye physiology	79776	ZFHX4	OMIM:178300
HP:0012373	Abnormal eye physiology	4914	NTRK1	ORPHA:642
HP:0012373	Abnormal eye physiology	65125	WNK1	OMIM:201300
HP:0012373	Abnormal eye physiology	54463	RETREG1	OMIM:201300
HP:0012373	Abnormal eye physiology	8218	CLTCL1	ORPHA:453510
HP:0012373	Abnormal eye physiology	146057	TTBK2	OMIM:604432
HP:0012373	Abnormal eye physiology	146057	TTBK2	ORPHA:98767
HP:0012373	Abnormal eye physiology	3748	KCNC3	OMIM:605259
HP:0012373	Abnormal eye physiology	3748	KCNC3	ORPHA:98768
HP:0012373	Abnormal eye physiology	9333	TGM5	ORPHA:263534
HP:0012373	Abnormal eye physiology	1475	CSTA	ORPHA:263534
HP:0012373	Abnormal eye physiology	64801	ARV1	OMIM:617020
HP:0012373	Abnormal eye physiology	9969	MED13	OMIM:618009
HP:0012373	Abnormal eye physiology	26012	NSMF	OMIM:614838
HP:0012373	Abnormal eye physiology	26277	TINF2	OMIM:613990
HP:0012373	Abnormal eye physiology	55505	NOP10	OMIM:224230
HP:0012373	Abnormal eye physiology	55651	NHP2	OMIM:224230
HP:0012373	Abnormal eye physiology	5073	PARN	OMIM:616353
HP:0012373	Abnormal eye physiology	3321	IGSF3	OMIM:149700
HP:0012373	Abnormal eye physiology	2196	FAT2	OMIM:617769
HP:0012373	Abnormal eye physiology	84189	SLITRK6	OMIM:221200
HP:0012373	Abnormal eye physiology	55610	VPS50	OMIM:619685
HP:0012373	Abnormal eye physiology	54453	RIN2	ORPHA:217335
HP:0012373	Abnormal eye physiology	54453	RIN2	OMIM:613075
HP:0012373	Abnormal eye physiology	79631	EFL1	OMIM:617941
HP:0012373	Abnormal eye physiology	90161	HS6ST2	OMIM:301025
HP:0012373	Abnormal eye physiology	8925	HERC1	ORPHA:457359
HP:0012373	Abnormal eye physiology	10265	IRX5	OMIM:611174
HP:0012373	Abnormal eye physiology	84146	ZNF644	OMIM:614167
HP:0012373	Abnormal eye physiology	1410	CRYAB	OMIM:613763
HP:0012373	Abnormal eye physiology	283375	SLC39A5	OMIM:615946
HP:0012373	Abnormal eye physiology	29894	CPSF1	OMIM:618827
HP:0012373	Abnormal eye physiology	51611	DPH5	OMIM:620070
HP:0012373	Abnormal eye physiology	407	ARR3	OMIM:301010
HP:0012373	Abnormal eye physiology	5498	PPOX	OMIM:620483
HP:0012373	Abnormal eye physiology	2742	GLRA2	OMIM:301076
HP:0012373	Abnormal eye physiology	84695	LOXL3	OMIM:619781
HP:0012373	Abnormal eye physiology	7873	MANF	OMIM:620651
HP:0012373	Abnormal eye physiology	4629	MYH11	OMIM:619351
HP:0012373	Abnormal eye physiology	59	ACTA2	OMIM:613834
HP:0012373	Abnormal eye physiology	10398	MYL9	OMIM:619365
HP:0012373	Abnormal eye physiology	9103	FCGR2C	ORPHA:3002
HP:0012373	Abnormal eye physiology	3043	HBB	ORPHA:232
HP:0012373	Abnormal eye physiology	10095	ARPC1B	OMIM:617718
HP:0012373	Abnormal eye physiology	23636	NUP62	OMIM:271930
HP:0012373	Abnormal eye physiology	9692	PRORP	OMIM:619737
HP:0012373	Abnormal eye physiology	5376	PMP22	ORPHA:90658
HP:0012373	Abnormal eye physiology	4359	MPZ	OMIM:118200
HP:0012373	Abnormal eye physiology	10133	OPTN	OMIM:137760
HP:0012373	Abnormal eye physiology	4909	NTF4	OMIM:613100
HP:0012373	Abnormal eye physiology	134430	WDR36	OMIM:609887
HP:0012373	Abnormal eye physiology	136371	ASB10	OMIM:603383
HP:0012373	Abnormal eye physiology	144811	LACC1	ORPHA:85414
HP:0012373	Abnormal eye physiology	4282	MIF	ORPHA:85414
HP:0012373	Abnormal eye physiology	3569	IL6	ORPHA:85414
HP:0012373	Abnormal eye physiology	7128	TNFAIP3	OMIM:616744
HP:0012373	Abnormal eye physiology	4166	CHST6	ORPHA:98969
HP:0012373	Abnormal eye physiology	7045	TGFBI	ORPHA:98964
HP:0012373	Abnormal eye physiology	10000	AKT3	ORPHA:99802
HP:0012373	Abnormal eye physiology	54658	UGT1A1	ORPHA:79234
HP:0012373	Abnormal eye physiology	55901	THSD1	ORPHA:231160
HP:0012373	Abnormal eye physiology	7049	TGFBR3	ORPHA:231160
HP:0012373	Abnormal eye physiology	83854	ANGPTL6	ORPHA:231160
HP:0012373	Abnormal eye physiology	2022	ENG	ORPHA:231160
HP:0012373	Abnormal eye physiology	3949	LDLR	ORPHA:391665
HP:0012373	Abnormal eye physiology	255738	PCSK9	ORPHA:391665
HP:0012373	Abnormal eye physiology	26119	LDLRAP1	ORPHA:391665
HP:0012373	Abnormal eye physiology	338	APOB	ORPHA:391665
HP:0012373	Abnormal eye physiology	64240	ABCG5	ORPHA:391665
HP:0012373	Abnormal eye physiology	64241	ABCG8	ORPHA:391665
HP:0012373	Abnormal eye physiology	51604	PIGT	ORPHA:369837
HP:0012373	Abnormal eye physiology	8891	EIF2B3	OMIM:620313
HP:0012373	Abnormal eye physiology	51241	COX16	OMIM:619355
HP:0012373	Abnormal eye physiology	2760	GM2A	ORPHA:309246
HP:0012373	Abnormal eye physiology	2903	GRIN2A	ORPHA:289266
HP:0012373	Abnormal eye physiology	164	AP1G1	OMIM:619467
HP:0012373	Abnormal eye physiology	7355	SLC35A2	ORPHA:356961
HP:0012373	Abnormal eye physiology	54517	PUS7	OMIM:618342
HP:0012373	Abnormal eye physiology	1292	COL6A2	OMIM:620727
HP:0012373	Abnormal eye physiology	55325	UFSP2	OMIM:620028
HP:0012373	Abnormal eye physiology	93986	FOXP2	ORPHA:251061
HP:0012373	Abnormal eye physiology	5058	PAK1	OMIM:618158
HP:0012373	Abnormal eye physiology	55367	PIDD1	OMIM:619827
HP:0012373	Abnormal eye physiology	57466	SCAF4	OMIM:620511
HP:0012373	Abnormal eye physiology	9382	COG1	OMIM:611209
HP:0012373	Abnormal eye physiology	51116	MRPS2	OMIM:617950
HP:0012373	Abnormal eye physiology	80232	WDR26	OMIM:617616
HP:0012373	Abnormal eye physiology	80232	WDR26	ORPHA:513456
HP:0012373	Abnormal eye physiology	6050	RNH1	OMIM:620461
HP:0012373	Abnormal eye physiology	91754	NEK9	OMIM:614262
HP:0012373	Abnormal eye physiology	6326	SCN2A	ORPHA:140927
HP:0012373	Abnormal eye physiology	3785	KCNQ2	ORPHA:140927
HP:0012373	Abnormal eye physiology	57505	AARS2	OMIM:614096
HP:0012373	Abnormal eye physiology	340533	NEXMIF	OMIM:300912
HP:0012373	Abnormal eye physiology	343450	KCNT2	OMIM:617771
HP:0012373	Abnormal eye physiology	112476	PRRT2	ORPHA:98810
HP:0012373	Abnormal eye physiology	25953	PNKD	ORPHA:98810
HP:0012373	Abnormal eye physiology	9488	PIGB	OMIM:618580
HP:0012373	Abnormal eye physiology	5903	RANBP2	ORPHA:88619
HP:0012373	Abnormal eye physiology	8813	DPM1	ORPHA:79322
HP:0012373	Abnormal eye physiology	25930	PTPN23	OMIM:618890
HP:0012373	Abnormal eye physiology	100131801	PET100	OMIM:619055
HP:0012373	Abnormal eye physiology	55704	CCDC88A	OMIM:617507
HP:0012373	Abnormal eye physiology	10878	CFHR3	OMIM:603075
HP:0012373	Abnormal eye physiology	83872	HMCN1	OMIM:603075
HP:0012373	Abnormal eye physiology	3078	CFHR1	OMIM:603075
HP:0012373	Abnormal eye physiology	1136	CHRNA3	OMIM:191800
HP:0012373	Abnormal eye physiology	1131	CHRM3	OMIM:100100
HP:0012373	Abnormal eye physiology	5879	RAC1	ORPHA:500159
HP:0012373	Abnormal eye physiology	25790	CFAP45	OMIM:619608
HP:0012373	Abnormal eye physiology	4308	TRPM1	ORPHA:215
HP:0012373	Abnormal eye physiology	57010	CABP4	ORPHA:215
HP:0012373	Abnormal eye physiology	345193	LRIT3	ORPHA:215
HP:0012373	Abnormal eye physiology	93589	CACNA2D4	ORPHA:215
HP:0012373	Abnormal eye physiology	2916	GRM6	ORPHA:215
HP:0012373	Abnormal eye physiology	440435	GPR179	ORPHA:215
HP:0012373	Abnormal eye physiology	778	CACNA1F	ORPHA:215
HP:0012373	Abnormal eye physiology	9187	SLC24A1	ORPHA:215
HP:0012373	Abnormal eye physiology	2784	GNB3	ORPHA:215
HP:0012373	Abnormal eye physiology	2779	GNAT1	ORPHA:215
HP:0012373	Abnormal eye physiology	60506	NYX	ORPHA:215
HP:0012373	Abnormal eye physiology	6531	SLC6A3	OMIM:613135
HP:0012373	Abnormal eye physiology	51091	SEPSECS	OMIM:613811
HP:0012373	Abnormal eye physiology	4070	TACSTD2	OMIM:204870
HP:0012373	Abnormal eye physiology	4070	TACSTD2	ORPHA:98957
HP:0012373	Abnormal eye physiology	147912	SIX5	ORPHA:107
HP:0012373	Abnormal eye physiology	7389	UROD	ORPHA:95159
HP:0012373	Abnormal eye physiology	3105	HLA-A	ORPHA:179
HP:0012373	Abnormal eye physiology	224	ALDH3A2	ORPHA:816
HP:0012373	Abnormal eye physiology	1493	CTLA4	ORPHA:900
HP:0012373	Abnormal eye physiology	3115	HLA-DPB1	ORPHA:900
HP:0012373	Abnormal eye physiology	5657	PRTN3	ORPHA:900
HP:0012373	Abnormal eye physiology	3113	HLA-DPA1	ORPHA:900
HP:0012373	Abnormal eye physiology	1776	DNASE1L3	ORPHA:36412
HP:0012373	Abnormal eye physiology	1536	CYBB	ORPHA:379
HP:0012373	Abnormal eye physiology	4688	NCF2	ORPHA:379
HP:0012373	Abnormal eye physiology	1535	CYBA	ORPHA:379
HP:0012373	Abnormal eye physiology	4689	NCF4	ORPHA:379
HP:0012373	Abnormal eye physiology	79415	CYBC1	ORPHA:379
HP:0012373	Abnormal eye physiology	55315	SLC29A3	OMIM:602782
HP:0012373	Abnormal eye physiology	151	ADRA2B	ORPHA:86814
HP:0012373	Abnormal eye physiology	55689	YEATS2	ORPHA:86814
HP:0012373	Abnormal eye physiology	1501	CTNND2	ORPHA:86814
HP:0012373	Abnormal eye physiology	10299	MARCHF6	ORPHA:86814
HP:0012373	Abnormal eye physiology	6900	CNTN2	ORPHA:86814
HP:0012373	Abnormal eye physiology	401474	SAMD12	ORPHA:86814
HP:0012373	Abnormal eye physiology	104	ADARB1	OMIM:618862
HP:0012373	Abnormal eye physiology	776	CACNA1D	OMIM:615474
HP:0012373	Abnormal eye physiology	776	CACNA1D	ORPHA:369929
HP:0012373	Abnormal eye physiology	2495	FTH1	OMIM:620669
HP:0012373	Abnormal eye physiology	1317	SLC31A1	OMIM:620306
HP:0012373	Abnormal eye physiology	132158	GLYCTK	ORPHA:941
HP:0012373	Abnormal eye physiology	1729	DIAPH1	ORPHA:477814
HP:0012373	Abnormal eye physiology	1729	DIAPH1	OMIM:616632
HP:0012373	Abnormal eye physiology	51112	TRAPPC12	ORPHA:500144
HP:0012373	Abnormal eye physiology	51112	TRAPPC12	OMIM:617669
HP:0012373	Abnormal eye physiology	396	ARHGDIA	OMIM:615244
HP:0012373	Abnormal eye physiology	1841	DTYMK	OMIM:619847
HP:0012373	Abnormal eye physiology	2560	GABRB1	OMIM:617153
HP:0012373	Abnormal eye physiology	10588	MTHFS	OMIM:618367
HP:0012373	Abnormal eye physiology	6844	VAMP2	OMIM:618760
HP:0012373	Abnormal eye physiology	79029	AFG2B	OMIM:619616
HP:0012373	Abnormal eye physiology	6821	SUOX	OMIM:272300
HP:0012373	Abnormal eye physiology	6491	STIL	ORPHA:93926
HP:0012373	Abnormal eye physiology	6491	STIL	ORPHA:93924
HP:0012373	Abnormal eye physiology	6491	STIL	ORPHA:93925
HP:0012373	Abnormal eye physiology	6491	STIL	ORPHA:220386
HP:0012373	Abnormal eye physiology	23007	PLCH1	ORPHA:93925
HP:0012373	Abnormal eye physiology	10735	STAG2	ORPHA:93925
HP:0012373	Abnormal eye physiology	10735	STAG2	ORPHA:220386
HP:0012373	Abnormal eye physiology	9894	TELO2	ORPHA:488642
HP:0012373	Abnormal eye physiology	9894	TELO2	OMIM:616954
HP:0012373	Abnormal eye physiology	85440	DOCK7	ORPHA:411986
HP:0012373	Abnormal eye physiology	85440	DOCK7	OMIM:615859
HP:0012373	Abnormal eye physiology	728294	D2HGDH	OMIM:600721
HP:0012373	Abnormal eye physiology	2222	FDFT1	OMIM:618156
HP:0012373	Abnormal eye physiology	90522	YIF1B	OMIM:619125
HP:0012373	Abnormal eye physiology	253959	RALGAPA1	OMIM:618797
HP:0012373	Abnormal eye physiology	8911	CACNA1I	OMIM:620114
HP:0012373	Abnormal eye physiology	60386	SLC25A19	OMIM:607196
HP:0012373	Abnormal eye physiology	440	ASNS	OMIM:615574
HP:0012373	Abnormal eye physiology	57731	SPTBN4	OMIM:617519
HP:0012373	Abnormal eye physiology	51693	TRAPPC2L	OMIM:618331
HP:0012373	Abnormal eye physiology	9276	COPB2	OMIM:617800
HP:0012373	Abnormal eye physiology	10844	TUBGCP2	OMIM:618737
HP:0012373	Abnormal eye physiology	57107	PDSS2	OMIM:614652
HP:0012373	Abnormal eye physiology	58497	PRUNE1	ORPHA:544469
HP:0012373	Abnormal eye physiology	9900	SV2A	OMIM:620772
HP:0012373	Abnormal eye physiology	1499	CTNNB1	ORPHA:891
HP:0012373	Abnormal eye physiology	153642	ARSK	OMIM:619698
HP:0012373	Abnormal eye physiology	55214	P3H2	OMIM:614292
HP:0012373	Abnormal eye physiology	5062	PAK2	OMIM:618458
HP:0012373	Abnormal eye physiology	1308	COL17A1	ORPHA:293381
HP:0012373	Abnormal eye physiology	1308	COL17A1	OMIM:122400
HP:0012373	Abnormal eye physiology	1497	CTNS	ORPHA:411634
HP:0012373	Abnormal eye physiology	23516	SLC39A14	OMIM:144755
HP:0012375	Chemosis	3162	HMOX1	OMIM:614034
HP:0012376	Microphakia	4010	LMX1B	OMIM:161200
HP:0012376	Microphakia	27151	CPAMD8	OMIM:617319
HP:0012376	Microphakia	3166	HMX1	OMIM:612109
HP:0012377	Hemianopia	5428	POLG	ORPHA:254881
HP:0012377	Hemianopia	4574	MT-TS1	OMIM:540000
HP:0012377	Hemianopia	4575	MT-TS2	OMIM:540000
HP:0012377	Hemianopia	4575	MT-TS2	ORPHA:231183
HP:0012377	Hemianopia	4535	MT-ND1	OMIM:540000
HP:0012377	Hemianopia	4567	MT-TL1	OMIM:540000
HP:0012377	Hemianopia	4512	MT-CO1	OMIM:540000
HP:0012377	Hemianopia	4513	MT-CO2	OMIM:540000
HP:0012377	Hemianopia	4514	MT-CO3	OMIM:540000
HP:0012377	Hemianopia	4519	MT-CYB	OMIM:540000
HP:0012377	Hemianopia	4511	MT-TC	OMIM:540000
HP:0012377	Hemianopia	4572	MT-TQ	OMIM:540000
HP:0012377	Hemianopia	4577	MT-TV	OMIM:540000
HP:0012377	Hemianopia	4578	MT-TW	OMIM:540000
HP:0012377	Hemianopia	4558	MT-TF	OMIM:540000
HP:0012377	Hemianopia	4566	MT-TK	OMIM:540000
HP:0012377	Hemianopia	4540	MT-ND5	OMIM:540000
HP:0012377	Hemianopia	4541	MT-ND6	OMIM:540000
HP:0012377	Hemianopia	64072	CDH23	ORPHA:231169
HP:0012377	Hemianopia	64072	CDH23	ORPHA:91347
HP:0012377	Hemianopia	64072	CDH23	ORPHA:2965
HP:0012377	Hemianopia	10083	USH1C	ORPHA:231169
HP:0012377	Hemianopia	124590	USH1G	ORPHA:231169
HP:0012377	Hemianopia	83715	ESPN	ORPHA:231169
HP:0012377	Hemianopia	10518	CIB2	ORPHA:231169
HP:0012377	Hemianopia	4647	MYO7A	ORPHA:231169
HP:0012377	Hemianopia	4647	MYO7A	ORPHA:231178
HP:0012377	Hemianopia	65217	PCDH15	ORPHA:231169
HP:0012377	Hemianopia	7399	USH2A	ORPHA:231178
HP:0012377	Hemianopia	79955	PDZD7	ORPHA:231178
HP:0012377	Hemianopia	25861	WHRN	ORPHA:231178
HP:0012377	Hemianopia	84059	ADGRV1	ORPHA:231178
HP:0012377	Hemianopia	11277	TREX1	ORPHA:247691
HP:0012377	Hemianopia	347733	TUBB2B	ORPHA:300573
HP:0012377	Hemianopia	16	AARS1	OMIM:619661
HP:0012377	Hemianopia	83550	GPR101	OMIM:300942
HP:0012377	Hemianopia	9692	PRORP	OMIM:619737
HP:0012377	Hemianopia	4221	MEN1	ORPHA:2965
HP:0012377	Hemianopia	9049	AIP	ORPHA:2965
HP:0012377	Hemianopia	8891	EIF2B3	OMIM:620313
HP:0012377	Hemianopia	5290	PIK3CA	ORPHA:99802
HP:0012377	Hemianopia	2475	MTOR	ORPHA:99802
HP:0012377	Hemianopia	10000	AKT3	ORPHA:99802
HP:0012377	Hemianopia	7401	CLRN1	ORPHA:231183
HP:0012377	Hemianopia	22901	ARSG	ORPHA:231183
HP:0012377	Hemianopia	3035	HARS1	ORPHA:231183
HP:0012377	Hemianopia	84131	CEP78	ORPHA:231183
HP:0012377	Hemianopia	2776	GNAQ	ORPHA:3205
HP:0012377	Hemianopia	55209	SETD5	ORPHA:404440
HP:0012377	Hemianopia	23600	AMACR	ORPHA:79095
HP:0012377	Hemianopia	8314	BAP1	ORPHA:2495
HP:0012377	Hemianopia	4771	NF2	ORPHA:2495
HP:0012377	Hemianopia	6598	SMARCB1	ORPHA:2495
HP:0012377	Hemianopia	5155	PDGFB	ORPHA:2495
HP:0012377	Hemianopia	84231	TRAF7	ORPHA:2495
HP:0012377	Hemianopia	6608	SMO	ORPHA:2495
HP:0012377	Hemianopia	207	AKT1	ORPHA:2495
HP:0012377	Hemianopia	7015	TERT	ORPHA:2495
HP:0012377	Hemianopia	51684	SUFU	ORPHA:2495
HP:0012377	Hemianopia	6605	SMARCE1	ORPHA:2495
HP:0012377	Hemianopia	1499	CTNNB1	ORPHA:54595
HP:0012377	Hemianopia	673	BRAF	ORPHA:54595
HP:0012378	Fatigue	1374	CPT1A	ORPHA:156
HP:0012378	Fatigue	26191	PTPN22	ORPHA:397
HP:0012378	Fatigue	26191	PTPN22	ORPHA:900
HP:0012378	Fatigue	26191	PTPN22	OMIM:180300
HP:0012378	Fatigue	26191	PTPN22	ORPHA:536
HP:0012378	Fatigue	3106	HLA-B	ORPHA:397
HP:0012378	Fatigue	3106	HLA-B	ORPHA:117
HP:0012378	Fatigue	3106	HLA-B	ORPHA:36426
HP:0012378	Fatigue	3106	HLA-B	ORPHA:3287
HP:0012378	Fatigue	3123	HLA-DRB1	ORPHA:397
HP:0012378	Fatigue	3123	HLA-DRB1	ORPHA:545
HP:0012378	Fatigue	3123	HLA-DRB1	ORPHA:536
HP:0012378	Fatigue	3123	HLA-DRB1	ORPHA:797
HP:0012378	Fatigue	3123	HLA-DRB1	ORPHA:747
HP:0012378	Fatigue	8974	P4HA2	ORPHA:397
HP:0012378	Fatigue	171023	ASXL1	ORPHA:98850
HP:0012378	Fatigue	171023	ASXL1	ORPHA:98849
HP:0012378	Fatigue	54790	TET2	ORPHA:98850
HP:0012378	Fatigue	54790	TET2	ORPHA:98849
HP:0012378	Fatigue	54790	TET2	ORPHA:824
HP:0012378	Fatigue	54790	TET2	ORPHA:98826
HP:0012378	Fatigue	54790	TET2	ORPHA:3318
HP:0012378	Fatigue	867	CBL	ORPHA:98850
HP:0012378	Fatigue	861	RUNX1	ORPHA:98850
HP:0012378	Fatigue	861	RUNX1	ORPHA:521
HP:0012378	Fatigue	6427	SRSF2	ORPHA:98850
HP:0012378	Fatigue	6427	SRSF2	ORPHA:98849
HP:0012378	Fatigue	6389	SDHA	ORPHA:154
HP:0012378	Fatigue	6389	SDHA	ORPHA:29072
HP:0012378	Fatigue	6389	SDHA	OMIM:619259
HP:0012378	Fatigue	6389	SDHA	ORPHA:44890
HP:0012378	Fatigue	10486	CAP2	ORPHA:154
HP:0012378	Fatigue	7716	VEZF1	ORPHA:154
HP:0012378	Fatigue	10060	ABCC9	ORPHA:154
HP:0012378	Fatigue	10060	ABCC9	OMIM:619719
HP:0012378	Fatigue	10060	ABCC9	ORPHA:334
HP:0012378	Fatigue	7168	TPM1	ORPHA:154
HP:0012378	Fatigue	27063	ANKRD1	ORPHA:154
HP:0012378	Fatigue	1410	CRYAB	ORPHA:154
HP:0012378	Fatigue	439	GET3	ORPHA:154
HP:0012378	Fatigue	7273	TTN	ORPHA:154
HP:0012378	Fatigue	7273	TTN	ORPHA:334
HP:0012378	Fatigue	5350	PLN	ORPHA:154
HP:0012378	Fatigue	5664	PSEN2	ORPHA:154
HP:0012378	Fatigue	9529	BAG5	ORPHA:154
HP:0012378	Fatigue	4607	MYBPC3	ORPHA:154
HP:0012378	Fatigue	11155	LDB3	ORPHA:154
HP:0012378	Fatigue	2274	FHL2	ORPHA:154
HP:0012378	Fatigue	1756	DMD	ORPHA:154
HP:0012378	Fatigue	1756	DMD	ORPHA:98895
HP:0012378	Fatigue	84665	MYPN	ORPHA:154
HP:0012378	Fatigue	1674	DES	ORPHA:154
HP:0012378	Fatigue	442721	LMOD2	ORPHA:154
HP:0012378	Fatigue	8557	TCAP	ORPHA:154
HP:0012378	Fatigue	57158	JPH2	ORPHA:154
HP:0012378	Fatigue	9015	TAF1A	ORPHA:154
HP:0012378	Fatigue	5663	PSEN1	ORPHA:154
HP:0012378	Fatigue	7112	TMPO	ORPHA:154
HP:0012378	Fatigue	9464	HAND2	ORPHA:154
HP:0012378	Fatigue	4625	MYH7	ORPHA:154
HP:0012378	Fatigue	4625	MYH7	ORPHA:1880
HP:0012378	Fatigue	88	ACTN2	ORPHA:154
HP:0012378	Fatigue	7414	VCL	ORPHA:154
HP:0012378	Fatigue	1832	DSP	ORPHA:154
HP:0012378	Fatigue	1832	DSP	ORPHA:2032
HP:0012378	Fatigue	70	ACTC1	ORPHA:154
HP:0012378	Fatigue	70	ACTC1	ORPHA:99103
HP:0012378	Fatigue	6123	RPL3L	ORPHA:154
HP:0012378	Fatigue	8048	CSRP3	ORPHA:154
HP:0012378	Fatigue	4000	LMNA	ORPHA:154
HP:0012378	Fatigue	4000	LMNA	OMIM:181350
HP:0012378	Fatigue	7139	TNNT2	ORPHA:154
HP:0012378	Fatigue	1829	DSG2	ORPHA:154
HP:0012378	Fatigue	3910	LAMA4	ORPHA:154
HP:0012378	Fatigue	63976	PRDM16	ORPHA:154
HP:0012378	Fatigue	10587	TXNRD2	ORPHA:154
HP:0012378	Fatigue	9531	BAG3	ORPHA:154
HP:0012378	Fatigue	91624	NEXN	ORPHA:154
HP:0012378	Fatigue	79717	PPCS	ORPHA:154
HP:0012378	Fatigue	4624	MYH6	ORPHA:154
HP:0012378	Fatigue	4624	MYH6	ORPHA:99103
HP:0012378	Fatigue	282996	RBM20	ORPHA:154
HP:0012378	Fatigue	7137	TNNI3	ORPHA:154
HP:0012378	Fatigue	6901	TAFAZZIN	ORPHA:154
HP:0012378	Fatigue	6901	TAFAZZIN	OMIM:302060
HP:0012378	Fatigue	22845	DOLK	ORPHA:154
HP:0012378	Fatigue	5894	RAF1	ORPHA:154
HP:0012378	Fatigue	57798	GATAD1	ORPHA:154
HP:0012378	Fatigue	7134	TNNC1	ORPHA:154
HP:0012378	Fatigue	6444	SGCD	ORPHA:154
HP:0012378	Fatigue	6331	SCN5A	ORPHA:154
HP:0012378	Fatigue	6331	SCN5A	ORPHA:334
HP:0012378	Fatigue	6331	SCN5A	ORPHA:1344
HP:0012378	Fatigue	2218	FKTN	ORPHA:154
HP:0012378	Fatigue	4791	NFKB2	ORPHA:293978
HP:0012378	Fatigue	7428	VHL	OMIM:263400
HP:0012378	Fatigue	7428	VHL	ORPHA:276621
HP:0012378	Fatigue	7428	VHL	ORPHA:29072
HP:0012378	Fatigue	8106	PABPN1	ORPHA:270
HP:0012378	Fatigue	5913	RAPSN	OMIM:616326
HP:0012378	Fatigue	7148	TNXB	ORPHA:230839
HP:0012378	Fatigue	10973	ASCC3	OMIM:620700
HP:0012378	Fatigue	3815	KIT	ORPHA:98849
HP:0012378	Fatigue	3815	KIT	ORPHA:44890
HP:0012378	Fatigue	8291	DYSF	OMIM:253601
HP:0012378	Fatigue	811	CALR	ORPHA:824
HP:0012378	Fatigue	811	CALR	ORPHA:3318
HP:0012378	Fatigue	4352	MPL	ORPHA:824
HP:0012378	Fatigue	4352	MPL	ORPHA:3318
HP:0012378	Fatigue	3717	JAK2	ORPHA:824
HP:0012378	Fatigue	3717	JAK2	ORPHA:729
HP:0012378	Fatigue	3717	JAK2	OMIM:133100
HP:0012378	Fatigue	3717	JAK2	ORPHA:3318
HP:0012378	Fatigue	7068	THRB	OMIM:274300
HP:0012378	Fatigue	4072	EPCAM	ORPHA:144
HP:0012378	Fatigue	4292	MLH1	ORPHA:144
HP:0012378	Fatigue	5395	PMS2	ORPHA:144
HP:0012378	Fatigue	7048	TGFBR2	ORPHA:144
HP:0012378	Fatigue	3845	KRAS	ORPHA:144
HP:0012378	Fatigue	5290	PIK3CA	ORPHA:144
HP:0012378	Fatigue	2956	MSH6	ORPHA:144
HP:0012378	Fatigue	5378	PMS1	ORPHA:144
HP:0012378	Fatigue	4436	MSH2	ORPHA:144
HP:0012378	Fatigue	4233	MET	ORPHA:33402
HP:0012378	Fatigue	1499	CTNNB1	ORPHA:33402
HP:0012378	Fatigue	79577	CDC73	ORPHA:143
HP:0012378	Fatigue	79577	CDC73	ORPHA:99880
HP:0012378	Fatigue	1278	COL1A2	ORPHA:230851
HP:0012378	Fatigue	64218	SEMA4A	ORPHA:440437
HP:0012378	Fatigue	472	ATM	ORPHA:440437
HP:0012378	Fatigue	472	ATM	ORPHA:52416
HP:0012378	Fatigue	5426	POLE	ORPHA:440437
HP:0012378	Fatigue	675	BRCA2	ORPHA:440437
HP:0012378	Fatigue	675	BRCA2	ORPHA:70567
HP:0012378	Fatigue	657	BMPR1A	ORPHA:440437
HP:0012378	Fatigue	6224	RPS20	ORPHA:440437
HP:0012378	Fatigue	4595	MUTYH	ORPHA:440437
HP:0012378	Fatigue	5424	POLD1	ORPHA:440437
HP:0012378	Fatigue	11200	CHEK2	ORPHA:440437
HP:0012378	Fatigue	2670	GFAP	OMIM:203450
HP:0012378	Fatigue	4221	MEN1	ORPHA:2965
HP:0012378	Fatigue	4221	MEN1	ORPHA:97279
HP:0012378	Fatigue	64072	CDH23	ORPHA:2965
HP:0012378	Fatigue	64072	CDH23	ORPHA:91347
HP:0012378	Fatigue	9049	AIP	ORPHA:2965
HP:0012378	Fatigue	9049	AIP	ORPHA:963
HP:0012378	Fatigue	2911	GRM1	OMIM:614831
HP:0012378	Fatigue	24142	NAA80	OMIM:620830
HP:0012378	Fatigue	30061	SLC40A1	OMIM:606069
HP:0012378	Fatigue	23400	ATP13A2	ORPHA:314632
HP:0012378	Fatigue	23400	ATP13A2	ORPHA:306674
HP:0012378	Fatigue	23400	ATP13A2	OMIM:606693
HP:0012378	Fatigue	7252	TSHB	ORPHA:90674
HP:0012378	Fatigue	6005	RHAG	OMIM:185000
HP:0012378	Fatigue	6772	STAT1	OMIM:614162
HP:0012378	Fatigue	2859	GPR35	ORPHA:171
HP:0012378	Fatigue	10507	SEMA4D	ORPHA:171
HP:0012378	Fatigue	4485	MST1	ORPHA:171
HP:0012378	Fatigue	6925	TCF4	ORPHA:171
HP:0012378	Fatigue	54453	RIN2	OMIM:613075
HP:0012378	Fatigue	114548	NLRP3	ORPHA:47045
HP:0012378	Fatigue	114548	NLRP3	ORPHA:1451
HP:0012378	Fatigue	114548	NLRP3	OMIM:120100
HP:0012378	Fatigue	215	ABCD1	ORPHA:139399
HP:0012378	Fatigue	50484	RRM2B	OMIM:613077
HP:0012378	Fatigue	50484	RRM2B	ORPHA:254892
HP:0012378	Fatigue	146862	UNC45B	OMIM:619178
HP:0012378	Fatigue	6440	SFTPC	ORPHA:2032
HP:0012378	Fatigue	729238	SFTPA2	ORPHA:2032
HP:0012378	Fatigue	79991	STN1	ORPHA:2032
HP:0012378	Fatigue	653509	SFTPA1	ORPHA:2032
HP:0012378	Fatigue	21	ABCA3	ORPHA:2032
HP:0012378	Fatigue	727897	MUC5B	ORPHA:2032
HP:0012378	Fatigue	10144	FAM13A	ORPHA:2032
HP:0012378	Fatigue	23250	ATP11A	ORPHA:2032
HP:0012378	Fatigue	91039	DPP9	ORPHA:2032
HP:0012378	Fatigue	51750	RTEL1	ORPHA:2032
HP:0012378	Fatigue	7012	TERC	ORPHA:2032
HP:0012378	Fatigue	5073	PARN	ORPHA:2032
HP:0012378	Fatigue	7015	TERT	ORPHA:2032
HP:0012378	Fatigue	5979	RET	ORPHA:276621
HP:0012378	Fatigue	5979	RET	ORPHA:29072
HP:0012378	Fatigue	1788	DNMT3A	ORPHA:276621
HP:0012378	Fatigue	2034	EPAS1	ORPHA:276621
HP:0012378	Fatigue	6392	SDHD	ORPHA:276621
HP:0012378	Fatigue	6392	SDHD	ORPHA:29072
HP:0012378	Fatigue	6390	SDHB	ORPHA:276621
HP:0012378	Fatigue	6390	SDHB	ORPHA:29072
HP:0012378	Fatigue	6390	SDHB	ORPHA:44890
HP:0012378	Fatigue	7555	CNBP	ORPHA:606
HP:0012378	Fatigue	83550	GPR101	ORPHA:963
HP:0012378	Fatigue	2035	EPB41	ORPHA:288
HP:0012378	Fatigue	2995	GYPC	ORPHA:288
HP:0012378	Fatigue	6710	SPTB	ORPHA:288
HP:0012378	Fatigue	6708	SPTA1	ORPHA:288
HP:0012378	Fatigue	9217	VAPB	ORPHA:209335
HP:0012378	Fatigue	9217	VAPB	ORPHA:803
HP:0012378	Fatigue	1277	COL1A1	ORPHA:287
HP:0012378	Fatigue	1289	COL5A1	ORPHA:287
HP:0012378	Fatigue	1290	COL5A2	ORPHA:287
HP:0012378	Fatigue	1175	AP2S1	OMIM:600740
HP:0012378	Fatigue	57190	SELENON	ORPHA:2020
HP:0012378	Fatigue	58	ACTA1	ORPHA:2020
HP:0012378	Fatigue	4633	MYL2	ORPHA:2020
HP:0012378	Fatigue	3679	ITGA7	ORPHA:2020
HP:0012378	Fatigue	7169	TPM2	ORPHA:2020
HP:0012378	Fatigue	7169	TPM2	OMIM:609285
HP:0012378	Fatigue	9200	HACD1	ORPHA:2020
HP:0012378	Fatigue	7170	TPM3	ORPHA:2020
HP:0012378	Fatigue	51776	MAP3K20	ORPHA:2020
HP:0012378	Fatigue	5528	PPP2R5D	OMIM:616355
HP:0012378	Fatigue	25942	SIN3A	OMIM:613406
HP:0012378	Fatigue	5255	PHKA1	ORPHA:715
HP:0012378	Fatigue	5260	PHKG1	ORPHA:715
HP:0012378	Fatigue	10370	CITED2	ORPHA:99105
HP:0012378	Fatigue	10370	CITED2	ORPHA:99103
HP:0012378	Fatigue	7092	TLL1	ORPHA:99106
HP:0012378	Fatigue	7092	TLL1	ORPHA:99103
HP:0012378	Fatigue	10019	SH2B3	OMIM:133100
HP:0012378	Fatigue	10019	SH2B3	ORPHA:3318
HP:0012378	Fatigue	2057	EPOR	OMIM:133100
HP:0012378	Fatigue	2057	EPOR	ORPHA:90042
HP:0012378	Fatigue	1244	ABCC2	ORPHA:234
HP:0012378	Fatigue	595	CCND1	ORPHA:52416
HP:0012378	Fatigue	595	CCND1	ORPHA:29073
HP:0012378	Fatigue	3492	IGH	ORPHA:52416
HP:0012378	Fatigue	3492	IGH	ORPHA:52417
HP:0012378	Fatigue	3492	IGH	ORPHA:545
HP:0012378	Fatigue	1621	DBH	ORPHA:230
HP:0012378	Fatigue	5251	PHEX	ORPHA:89936
HP:0012378	Fatigue	330	BIRC3	ORPHA:52417
HP:0012378	Fatigue	10892	MALT1	ORPHA:52417
HP:0012378	Fatigue	27086	FOXP1	ORPHA:52417
HP:0012378	Fatigue	8915	BCL10	ORPHA:52417
HP:0012378	Fatigue	8074	FGF23	ORPHA:89937
HP:0012378	Fatigue	213	ALB	OMIM:616000
HP:0012378	Fatigue	213	ALB	ORPHA:86816
HP:0012378	Fatigue	5626	PROP1	ORPHA:226307
HP:0012378	Fatigue	5626	PROP1	ORPHA:95494
HP:0012378	Fatigue	5626	PROP1	ORPHA:90695
HP:0012378	Fatigue	89884	LHX4	ORPHA:226307
HP:0012378	Fatigue	89884	LHX4	ORPHA:95494
HP:0012378	Fatigue	8022	LHX3	ORPHA:226307
HP:0012378	Fatigue	5449	POU1F1	ORPHA:226307
HP:0012378	Fatigue	5449	POU1F1	ORPHA:95494
HP:0012378	Fatigue	8820	HESX1	ORPHA:226307
HP:0012378	Fatigue	8820	HESX1	ORPHA:95494
HP:0012378	Fatigue	8820	HESX1	ORPHA:3157
HP:0012378	Fatigue	10068	IL18BP	OMIM:618549
HP:0012378	Fatigue	51604	PIGT	OMIM:615399
HP:0012378	Fatigue	1743	DLST	ORPHA:29072
HP:0012378	Fatigue	4191	MDH2	ORPHA:29072
HP:0012378	Fatigue	23095	KIF1B	ORPHA:29072
HP:0012378	Fatigue	2271	FH	ORPHA:29072
HP:0012378	Fatigue	8402	SLC25A11	ORPHA:29072
HP:0012378	Fatigue	54949	SDHAF2	ORPHA:29072
HP:0012378	Fatigue	55654	TMEM127	ORPHA:29072
HP:0012378	Fatigue	4763	NF1	ORPHA:29072
HP:0012378	Fatigue	6391	SDHC	ORPHA:29072
HP:0012378	Fatigue	6391	SDHC	ORPHA:44890
HP:0012378	Fatigue	4149	MAX	ORPHA:29072
HP:0012378	Fatigue	79798	ARMC5	OMIM:615954
HP:0012378	Fatigue	7454	WAS	ORPHA:906
HP:0012378	Fatigue	7456	WIPF1	ORPHA:906
HP:0012378	Fatigue	81031	SLC2A10	ORPHA:3342
HP:0012378	Fatigue	1493	CTLA4	ORPHA:900
HP:0012378	Fatigue	1493	CTLA4	ORPHA:536
HP:0012378	Fatigue	3115	HLA-DPB1	ORPHA:900
HP:0012378	Fatigue	3115	HLA-DPB1	ORPHA:133
HP:0012378	Fatigue	5657	PRTN3	ORPHA:900
HP:0012378	Fatigue	3113	HLA-DPA1	ORPHA:900
HP:0012378	Fatigue	6329	SCN4A	ORPHA:99734
HP:0012378	Fatigue	6329	SCN4A	OMIM:620351
HP:0012378	Fatigue	4210	MEFV	ORPHA:342
HP:0012378	Fatigue	4210	MEFV	ORPHA:117
HP:0012378	Fatigue	2736	GLI2	ORPHA:95494
HP:0012378	Fatigue	3170	FOXA2	ORPHA:95494
HP:0012378	Fatigue	5015	OTX2	ORPHA:95494
HP:0012378	Fatigue	5015	OTX2	ORPHA:3157
HP:0012378	Fatigue	130340	AP1S3	ORPHA:247353
HP:0012378	Fatigue	26525	IL36RN	ORPHA:247353
HP:0012378	Fatigue	2908	NR3C1	OMIM:615962
HP:0012378	Fatigue	2908	NR3C1	ORPHA:786
HP:0012378	Fatigue	4665	NAB2	ORPHA:2126
HP:0012378	Fatigue	6778	STAT6	ORPHA:2126
HP:0012378	Fatigue	866	SERPINA6	OMIM:611489
HP:0012378	Fatigue	3662	IRF4	ORPHA:3452
HP:0012378	Fatigue	9493	KIF23	ORPHA:98870
HP:0012378	Fatigue	29127	RACGAP1	ORPHA:98870
HP:0012378	Fatigue	695	BTK	ORPHA:47
HP:0012378	Fatigue	5339	PLEC	ORPHA:257
HP:0012378	Fatigue	34	ACADM	ORPHA:42
HP:0012378	Fatigue	84868	HAVCR2	ORPHA:86884
HP:0012378	Fatigue	6572	SLC18A3	OMIM:617239
HP:0012378	Fatigue	859	CAV3	OMIM:123320
HP:0012378	Fatigue	162417	NAGS	ORPHA:927
HP:0012378	Fatigue	654	BMP6	ORPHA:465508
HP:0012378	Fatigue	3077	HFE	ORPHA:465508
HP:0012378	Fatigue	3586	IL10	OMIM:180300
HP:0012378	Fatigue	3586	IL10	ORPHA:117
HP:0012378	Fatigue	3586	IL10	ORPHA:536
HP:0012378	Fatigue	6583	SLC22A4	OMIM:180300
HP:0012378	Fatigue	4261	CIITA	OMIM:180300
HP:0012378	Fatigue	51744	CD244	OMIM:180300
HP:0012378	Fatigue	4795	NFKBIL1	OMIM:180300
HP:0012378	Fatigue	25978	CHMP2B	ORPHA:803
HP:0012378	Fatigue	3178	HNRNPA1	ORPHA:803
HP:0012378	Fatigue	8148	TAF15	ORPHA:803
HP:0012378	Fatigue	5445	PON2	ORPHA:803
HP:0012378	Fatigue	8878	SQSTM1	ORPHA:803
HP:0012378	Fatigue	5630	PRPH	ORPHA:803
HP:0012378	Fatigue	29110	TBK1	ORPHA:803
HP:0012378	Fatigue	29110	TBK1	ORPHA:1930
HP:0012378	Fatigue	55830	GLT8D1	ORPHA:803
HP:0012378	Fatigue	755	CFAP410	ORPHA:803
HP:0012378	Fatigue	10891	PPARGC1A	ORPHA:803
HP:0012378	Fatigue	6647	SOD1	ORPHA:803
HP:0012378	Fatigue	10133	OPTN	ORPHA:803
HP:0012378	Fatigue	1639	DCTN1	ORPHA:803
HP:0012378	Fatigue	9896	FIG4	ORPHA:803
HP:0012378	Fatigue	5444	PON1	ORPHA:803
HP:0012378	Fatigue	5446	PON3	ORPHA:803
HP:0012378	Fatigue	4744	NEFH	ORPHA:803
HP:0012378	Fatigue	5216	PFN1	ORPHA:803
HP:0012378	Fatigue	9782	MATR3	ORPHA:803
HP:0012378	Fatigue	54209	TREM2	ORPHA:803
HP:0012378	Fatigue	7415	VCP	ORPHA:803
HP:0012378	Fatigue	283	ANG	ORPHA:803
HP:0012378	Fatigue	23435	TARDBP	ORPHA:803
HP:0012378	Fatigue	29978	UBQLN2	ORPHA:803
HP:0012378	Fatigue	2733	GLE1	ORPHA:803
HP:0012378	Fatigue	2521	FUS	ORPHA:803
HP:0012378	Fatigue	4750	NEK1	ORPHA:803
HP:0012378	Fatigue	6311	ATXN2	ORPHA:803
HP:0012378	Fatigue	1610	DAO	ORPHA:803
HP:0012378	Fatigue	2066	ERBB4	ORPHA:803
HP:0012378	Fatigue	311	ANXA11	ORPHA:803
HP:0012378	Fatigue	23025	UNC13A	ORPHA:803
HP:0012378	Fatigue	899	CCNF	ORPHA:803
HP:0012378	Fatigue	400916	CHCHD10	ORPHA:803
HP:0012378	Fatigue	3514	IGKC	ORPHA:183675
HP:0012378	Fatigue	3501	IGHG2	ORPHA:183675
HP:0012378	Fatigue	5837	PYGM	ORPHA:368
HP:0012378	Fatigue	7201	TRHR	ORPHA:99832
HP:0012378	Fatigue	7201	TRHR	OMIM:618573
HP:0012378	Fatigue	4615	MYD88	ORPHA:33226
HP:0012378	Fatigue	1186	CLCN7	ORPHA:53
HP:0012378	Fatigue	2629	GBA1	ORPHA:77261
HP:0012378	Fatigue	55023	PHIP	ORPHA:589905
HP:0012378	Fatigue	10568	SLC34A2	ORPHA:60025
HP:0012378	Fatigue	5256	PHKA2	ORPHA:264580
HP:0012378	Fatigue	5256	PHKA2	OMIM:306000
HP:0012378	Fatigue	5261	PHKG2	ORPHA:264580
HP:0012378	Fatigue	7157	TP53	ORPHA:3318
HP:0012378	Fatigue	6658	SOX3	ORPHA:90695
HP:0012378	Fatigue	6658	SOX3	ORPHA:3157
HP:0012378	Fatigue	2068	ERCC2	ORPHA:910
HP:0012378	Fatigue	7507	XPA	ORPHA:910
HP:0012378	Fatigue	2071	ERCC3	ORPHA:910
HP:0012378	Fatigue	7508	XPC	ORPHA:910
HP:0012378	Fatigue	1643	DDB2	ORPHA:910
HP:0012378	Fatigue	2072	ERCC4	ORPHA:910
HP:0012378	Fatigue	2073	ERCC5	ORPHA:910
HP:0012378	Fatigue	6929	TCF3	ORPHA:33110
HP:0012378	Fatigue	7922	SLC39A7	ORPHA:33110
HP:0012378	Fatigue	973	CD79A	ORPHA:33110
HP:0012378	Fatigue	974	CD79B	ORPHA:33110
HP:0012378	Fatigue	6688	SPI1	ORPHA:33110
HP:0012378	Fatigue	3543	IGLL1	ORPHA:33110
HP:0012378	Fatigue	3507	IGHM	ORPHA:33110
HP:0012378	Fatigue	29760	BLNK	ORPHA:33110
HP:0012378	Fatigue	5295	PIK3R1	ORPHA:33110
HP:0012378	Fatigue	56262	LRRC8A	ORPHA:33110
HP:0012378	Fatigue	149233	IL23R	ORPHA:117
HP:0012378	Fatigue	6775	STAT4	ORPHA:117
HP:0012378	Fatigue	6775	STAT4	ORPHA:536
HP:0012378	Fatigue	1230	CCR1	ORPHA:117
HP:0012378	Fatigue	355	FAS	ORPHA:117
HP:0012378	Fatigue	3592	IL12A	ORPHA:117
HP:0012378	Fatigue	3592	IL12A	ORPHA:186
HP:0012378	Fatigue	101928376	IL12A-AS1	ORPHA:117
HP:0012378	Fatigue	7099	TLR4	ORPHA:117
HP:0012378	Fatigue	3459	IFNGR1	ORPHA:117
HP:0012378	Fatigue	720	C4A	ORPHA:117
HP:0012378	Fatigue	720	C4A	ORPHA:536
HP:0012378	Fatigue	337867	UBAC2	ORPHA:117
HP:0012378	Fatigue	51752	ERAP1	ORPHA:117
HP:0012378	Fatigue	8302	KLRC4	ORPHA:117
HP:0012378	Fatigue	7187	TRAF3	ORPHA:1930
HP:0012378	Fatigue	81622	UNC93B1	ORPHA:1930
HP:0012378	Fatigue	148022	TICAM1	ORPHA:1930
HP:0012378	Fatigue	7098	TLR3	ORPHA:1930
HP:0012378	Fatigue	291	SLC25A4	ORPHA:254892
HP:0012378	Fatigue	291	SLC25A4	OMIM:615418
HP:0012378	Fatigue	5428	POLG	ORPHA:254892
HP:0012378	Fatigue	56652	TWNK	ORPHA:254892
HP:0012378	Fatigue	56652	TWNK	OMIM:609286
HP:0012378	Fatigue	11232	POLG2	ORPHA:254892
HP:0012378	Fatigue	3155	HMGCL	ORPHA:20
HP:0012378	Fatigue	9842	PLEKHM1	OMIM:618107
HP:0012378	Fatigue	6261	RYR1	ORPHA:466650
HP:0012378	Fatigue	6571	SLC18A2	ORPHA:352649
HP:0012378	Fatigue	6571	SLC18A2	OMIM:618049
HP:0012378	Fatigue	596	BCL2	ORPHA:545
HP:0012378	Fatigue	604	BCL6	ORPHA:545
HP:0012378	Fatigue	58484	NLRC4	OMIM:616050
HP:0012378	Fatigue	7317	UBA1	OMIM:301054
HP:0012378	Fatigue	22880	MORC2	ORPHA:466768
HP:0012378	Fatigue	672	BRCA1	ORPHA:70567
HP:0012378	Fatigue	5774	PTPN3	ORPHA:70567
HP:0012378	Fatigue	6098	ROS1	ORPHA:70567
HP:0012378	Fatigue	59067	IL21	OMIM:615767
HP:0012378	Fatigue	7248	TSC1	ORPHA:538
HP:0012378	Fatigue	7249	TSC2	ORPHA:538
HP:0012378	Fatigue	3930	LBR	ORPHA:779
HP:0012378	Fatigue	1991	ELANE	ORPHA:2686
HP:0012378	Fatigue	2215	FCGR3B	ORPHA:536
HP:0012378	Fatigue	3684	ITGAM	ORPHA:536
HP:0012378	Fatigue	221895	JAZF1	ORPHA:536
HP:0012378	Fatigue	11277	TREX1	ORPHA:536
HP:0012378	Fatigue	7292	TNFSF4	ORPHA:536
HP:0012378	Fatigue	640	BLK	ORPHA:536
HP:0012378	Fatigue	55024	BANK1	ORPHA:536
HP:0012378	Fatigue	3500	IGHG1	ORPHA:536
HP:0012378	Fatigue	3654	IRAK1	ORPHA:536
HP:0012378	Fatigue	1380	CR2	ORPHA:536
HP:0012378	Fatigue	5133	PDCD1	ORPHA:536
HP:0012378	Fatigue	2113	ETS1	ORPHA:536
HP:0012378	Fatigue	2213	FCGR2B	ORPHA:536
HP:0012378	Fatigue	10318	TNIP1	ORPHA:536
HP:0012378	Fatigue	7332	UBE2L3	ORPHA:536
HP:0012378	Fatigue	79932	KIAA0319L	ORPHA:536
HP:0012378	Fatigue	4204	MECP2	ORPHA:536
HP:0012378	Fatigue	3663	IRF5	ORPHA:536
HP:0012378	Fatigue	3663	IRF5	ORPHA:186
HP:0012378	Fatigue	721	C4B	ORPHA:536
HP:0012378	Fatigue	1773	DNASE1	ORPHA:536
HP:0012378	Fatigue	51284	TLR7	ORPHA:536
HP:0012378	Fatigue	6696	SPP1	ORPHA:536
HP:0012378	Fatigue	54899	PXK	ORPHA:536
HP:0012378	Fatigue	7128	TNFAIP3	ORPHA:536
HP:0012378	Fatigue	7849	PAX8	ORPHA:95720
HP:0012378	Fatigue	7849	PAX8	ORPHA:95713
HP:0012378	Fatigue	7849	PAX8	ORPHA:95712
HP:0012378	Fatigue	7253	TSHR	ORPHA:95720
HP:0012378	Fatigue	7253	TSHR	ORPHA:95713
HP:0012378	Fatigue	5172	SLC26A4	ORPHA:95720
HP:0012378	Fatigue	5172	SLC26A4	ORPHA:95713
HP:0012378	Fatigue	3753	KCNE1	ORPHA:334
HP:0012378	Fatigue	2702	GJA5	ORPHA:334
HP:0012378	Fatigue	3760	KCNJ3	ORPHA:334
HP:0012378	Fatigue	3762	KCNJ5	ORPHA:334
HP:0012378	Fatigue	4635	MYL4	ORPHA:334
HP:0012378	Fatigue	1482	NKX2-5	ORPHA:334
HP:0012378	Fatigue	1482	NKX2-5	ORPHA:95713
HP:0012378	Fatigue	1482	NKX2-5	ORPHA:95712
HP:0012378	Fatigue	1482	NKX2-5	ORPHA:99103
HP:0012378	Fatigue	137814	NKX2-6	ORPHA:334
HP:0012378	Fatigue	4878	NPPA	ORPHA:334
HP:0012378	Fatigue	4878	NPPA	ORPHA:1344
HP:0012378	Fatigue	55800	SCN3B	ORPHA:334
HP:0012378	Fatigue	9992	KCNE2	ORPHA:334
HP:0012378	Fatigue	2626	GATA4	ORPHA:334
HP:0012378	Fatigue	2626	GATA4	ORPHA:99103
HP:0012378	Fatigue	2627	GATA6	ORPHA:334
HP:0012378	Fatigue	2627	GATA6	ORPHA:99103
HP:0012378	Fatigue	5308	PITX2	ORPHA:334
HP:0012378	Fatigue	6327	SCN2B	ORPHA:334
HP:0012378	Fatigue	140628	GATA5	ORPHA:334
HP:0012378	Fatigue	3759	KCNJ2	ORPHA:334
HP:0012378	Fatigue	3784	KCNQ1	ORPHA:334
HP:0012378	Fatigue	6324	SCN1B	ORPHA:334
HP:0012378	Fatigue	6330	SCN4B	ORPHA:334
HP:0012378	Fatigue	3741	KCNA5	ORPHA:334
HP:0012378	Fatigue	9631	NUP155	ORPHA:334
HP:0012378	Fatigue	10059	DNM1L	ORPHA:98673
HP:0012378	Fatigue	4976	OPA1	ORPHA:98673
HP:0012378	Fatigue	4976	OPA1	ORPHA:1215
HP:0012378	Fatigue	10320	IKZF1	ORPHA:36426
HP:0012378	Fatigue	3039	HBA1	ORPHA:98791
HP:0012378	Fatigue	3040	HBA2	ORPHA:98791
HP:0012378	Fatigue	27235	COQ2	OMIM:607426
HP:0012378	Fatigue	55240	STEAP3	ORPHA:300298
HP:0012378	Fatigue	8867	SYNJ1	OMIM:615530
HP:0012378	Fatigue	8867	SYNJ1	ORPHA:391411
HP:0012378	Fatigue	79572	ATP13A3	OMIM:265400
HP:0012378	Fatigue	7080	NKX2-1	ORPHA:95713
HP:0012378	Fatigue	2304	FOXE1	ORPHA:95713
HP:0012378	Fatigue	708	C1QBP	OMIM:617713
HP:0012378	Fatigue	5257	PHKB	ORPHA:79240
HP:0012378	Fatigue	55750	AGK	OMIM:212350
HP:0012378	Fatigue	2717	GLA	ORPHA:324
HP:0012378	Fatigue	4566	MT-TK	ORPHA:1349
HP:0012378	Fatigue	212	ALAS2	ORPHA:75563
HP:0012378	Fatigue	538	ATP7A	ORPHA:565
HP:0012378	Fatigue	55863	TMEM126B	OMIM:618250
HP:0012378	Fatigue	3643	INSR	ORPHA:263458
HP:0012378	Fatigue	3172	HNF4A	ORPHA:263455
HP:0012378	Fatigue	546	ATRX	ORPHA:231401
HP:0012378	Fatigue	146206	CARMIL2	OMIM:618131
HP:0012378	Fatigue	55340	GIMAP5	OMIM:619463
HP:0012378	Fatigue	190	NR0B1	ORPHA:95702
HP:0012378	Fatigue	56244	BTNL2	ORPHA:797
HP:0012378	Fatigue	57057	TBX20	ORPHA:99103
HP:0012378	Fatigue	84265	POLR3GL	OMIM:619234
HP:0012378	Fatigue	55791	LRIF1	OMIM:619477
HP:0012378	Fatigue	6711	SPTBN1	OMIM:619475
HP:0012378	Fatigue	2643	GCH1	ORPHA:98808
HP:0012378	Fatigue	4929	NR4A2	ORPHA:98808
HP:0012378	Fatigue	3615	IMPDH2	ORPHA:98808
HP:0012378	Fatigue	7528	YY1	ORPHA:97279
HP:0012378	Fatigue	6476	SI	ORPHA:35122
HP:0012378	Fatigue	7036	TFR2	OMIM:604250
HP:0012378	Fatigue	9829	DNAJC6	ORPHA:391411
HP:0012378	Fatigue	5420	PODXL	ORPHA:391411
HP:0012378	Fatigue	1298	COL9A2	OMIM:600204
HP:0012378	Fatigue	7204	TRIO	OMIM:617061
HP:0012378	Fatigue	3594	IL12RB1	ORPHA:186
HP:0012378	Fatigue	23534	TNPO3	ORPHA:186
HP:0012378	Fatigue	6689	SPIB	ORPHA:186
HP:0012378	Fatigue	5450	POU2AF1	ORPHA:186
HP:0012378	Fatigue	9966	TNFSF15	ORPHA:186
HP:0012378	Fatigue	79258	MMEL1	ORPHA:186
HP:0012378	Fatigue	128240	NAXE	OMIM:617186
HP:0012378	Fatigue	3075	CFH	ORPHA:244242
HP:0012378	Fatigue	3426	CFI	ORPHA:244242
HP:0012378	Fatigue	4179	CD46	ORPHA:244242
HP:0012378	Fatigue	101101692	HELLPAR	ORPHA:244242
HP:0012378	Fatigue	5294	PIK3CG	OMIM:619802
HP:0012378	Fatigue	6519	SLC3A1	ORPHA:163690
HP:0012378	Fatigue	9581	PREPL	ORPHA:163690
HP:0012378	Fatigue	2645	GCK	ORPHA:79299
HP:0012378	Fatigue	9095	TBX19	ORPHA:199296
HP:0012378	Fatigue	9365	KL	OMIM:617994
HP:0012378	Fatigue	5156	PDGFRA	ORPHA:44890
HP:0012378	Fatigue	55624	POMGNT1	OMIM:613157
HP:0012378	Fatigue	5236	PGM1	OMIM:614921
HP:0012378	Fatigue	27249	MMADHC	ORPHA:79283
HP:0012378	Fatigue	2624	GATA2	ORPHA:228423
HP:0012378	Fatigue	6340	SCNN1G	ORPHA:526
HP:0012378	Fatigue	6338	SCNN1B	ORPHA:526
HP:0012378	Fatigue	6337	SCNN1A	ORPHA:526
HP:0012378	Fatigue	3593	IL12B	ORPHA:3287
HP:0012378	Fatigue	6945	MLX	ORPHA:3287
HP:0012378	Fatigue	9203	ZMYM3	OMIM:301111
HP:0012378	Fatigue	613	BCR	ORPHA:521
HP:0012378	Fatigue	25	ABL1	ORPHA:521
HP:0012378	Fatigue	6774	STAT3	ORPHA:520
HP:0012378	Fatigue	5371	PML	ORPHA:520
HP:0012378	Fatigue	5914	RARA	ORPHA:520
HP:0012378	Fatigue	359948	IRF2BP2	ORPHA:520
HP:0012378	Fatigue	81608	FIP1L1	ORPHA:520
HP:0012378	Fatigue	4869	NPM1	ORPHA:520
HP:0012378	Fatigue	5573	PRKAR1A	ORPHA:520
HP:0012378	Fatigue	54880	BCOR	ORPHA:520
HP:0012378	Fatigue	64859	NABP1	ORPHA:520
HP:0012378	Fatigue	6777	STAT5B	ORPHA:520
HP:0012378	Fatigue	4926	NUMA1	ORPHA:520
HP:0012378	Fatigue	7704	ZBTB16	ORPHA:520
HP:0012378	Fatigue	79718	TBL1XR1	ORPHA:520
HP:0012378	Fatigue	23040	MYT1L	ORPHA:647799
HP:0012378	Fatigue	3839	KPNA3	ORPHA:171612
HP:0012378	Fatigue	2512	FTL	ORPHA:254704
HP:0012378	Fatigue	115286	SLC25A26	OMIM:616794
HP:0012378	Fatigue	341208	HEPHL1	OMIM:261990
HP:0012378	Fatigue	9051	PSTPIP1	ORPHA:69126
HP:0012378	Fatigue	6559	SLC12A3	OMIM:263800
HP:0012378	Fatigue	2260	FGFR1	ORPHA:3157
HP:0012378	Fatigue	128674	PROKR2	ORPHA:3157
HP:0012378	Fatigue	6657	SOX2	ORPHA:3157
HP:0012378	Fatigue	9915	ARNT2	ORPHA:3157
HP:0012378	Fatigue	50640	PNPLA8	OMIM:251950
HP:0012378	Fatigue	4067	LYN	OMIM:620376
HP:0012378	Fatigue	4613	MYCN	ORPHA:635
HP:0012378	Fatigue	238	ALK	ORPHA:635
HP:0012378	Fatigue	389421	LIN28B	ORPHA:635
HP:0012378	Fatigue	4004	LMO1	ORPHA:635
HP:0012378	Fatigue	57531	HACE1	ORPHA:635
HP:0012378	Fatigue	8929	PHOX2B	ORPHA:635
HP:0012378	Fatigue	6521	SLC4A1	ORPHA:3202
HP:0012378	Fatigue	9780	PIEZO1	ORPHA:3202
HP:0012378	Fatigue	3783	KCNN4	ORPHA:3202
HP:0012378	Fatigue	4088	SMAD3	ORPHA:284984
HP:0012378	Fatigue	4088	SMAD3	OMIM:613795
HP:0012378	Fatigue	7084	TK2	ORPHA:254875
HP:0012378	Fatigue	165	AEBP1	OMIM:618000
HP:0012378	Fatigue	10625	IVNS1ABP	OMIM:618969
HP:0012378	Fatigue	4194	MDM4	OMIM:618849
HP:0012378	Fatigue	4087	SMAD2	OMIM:619656
HP:0012378	Fatigue	8659	ALDH4A1	ORPHA:79101
HP:0012378	Fatigue	56246	MRAP	ORPHA:361
HP:0012378	Fatigue	6770	STAR	ORPHA:361
HP:0012378	Fatigue	4158	MC2R	ORPHA:361
HP:0012378	Fatigue	23530	NNT	ORPHA:361
HP:0012378	Fatigue	440275	EIF2AK4	OMIM:234810
HP:0012378	Fatigue	285282	RABL3	ORPHA:1333
HP:0012378	Fatigue	1029	CDKN2A	ORPHA:1333
HP:0012378	Fatigue	79728	PALB2	ORPHA:1333
HP:0012378	Fatigue	4089	SMAD4	ORPHA:1333
HP:0012378	Fatigue	23022	PALLD	ORPHA:1333
HP:0012378	Fatigue	7046	TGFBR1	OMIM:609192
HP:0012378	Fatigue	5660	PSAP	OMIM:610539
HP:0012379	Abnormal circulating enzyme concentration or activity	4535	MT-ND1	ORPHA:255210
HP:0012379	Abnormal circulating enzyme concentration or activity	4536	MT-ND2	ORPHA:255210
HP:0012379	Abnormal circulating enzyme concentration or activity	4537	MT-ND3	ORPHA:255210
HP:0012379	Abnormal circulating enzyme concentration or activity	4538	MT-ND4	ORPHA:255210
HP:0012379	Abnormal circulating enzyme concentration or activity	4567	MT-TL1	ORPHA:255210
HP:0012379	Abnormal circulating enzyme concentration or activity	4578	MT-TW	ORPHA:255210
HP:0012379	Abnormal circulating enzyme concentration or activity	4577	MT-TV	ORPHA:255210
HP:0012379	Abnormal circulating enzyme concentration or activity	4508	MT-ATP6	ORPHA:255210
HP:0012379	Abnormal circulating enzyme concentration or activity	4540	MT-ND5	ORPHA:255210
HP:0012379	Abnormal circulating enzyme concentration or activity	4541	MT-ND6	ORPHA:255210
HP:0012379	Abnormal circulating enzyme concentration or activity	4566	MT-TK	ORPHA:255210
HP:0012379	Abnormal circulating enzyme concentration or activity	4967	OGDH	ORPHA:31
HP:0012379	Abnormal circulating enzyme concentration or activity	1374	CPT1A	ORPHA:156
HP:0012379	Abnormal circulating enzyme concentration or activity	1374	CPT1A	OMIM:255120
HP:0012379	Abnormal circulating enzyme concentration or activity	6584	SLC22A5	ORPHA:158
HP:0012379	Abnormal circulating enzyme concentration or activity	875	CBS	ORPHA:394
HP:0012379	Abnormal circulating enzyme concentration or activity	26235	FBXL4	OMIM:615471
HP:0012379	Abnormal circulating enzyme concentration or activity	55532	SLC30A10	ORPHA:309854
HP:0012379	Abnormal circulating enzyme concentration or activity	55532	SLC30A10	OMIM:613280
HP:0012379	Abnormal circulating enzyme concentration or activity	1161	ERCC8	ORPHA:90324
HP:0012379	Abnormal circulating enzyme concentration or activity	1161	ERCC8	ORPHA:90321
HP:0012379	Abnormal circulating enzyme concentration or activity	2074	ERCC6	ORPHA:90324
HP:0012379	Abnormal circulating enzyme concentration or activity	2074	ERCC6	ORPHA:90321
HP:0012379	Abnormal circulating enzyme concentration or activity	60684	TRAPPC11	OMIM:615356
HP:0012379	Abnormal circulating enzyme concentration or activity	60684	TRAPPC11	ORPHA:369840
HP:0012379	Abnormal circulating enzyme concentration or activity	7355	SLC35A2	ORPHA:356961
HP:0012379	Abnormal circulating enzyme concentration or activity	57539	WDR35	OMIM:613610
HP:0012379	Abnormal circulating enzyme concentration or activity	80270	HSD3B7	ORPHA:79301
HP:0012379	Abnormal circulating enzyme concentration or activity	80270	HSD3B7	OMIM:607765
HP:0012379	Abnormal circulating enzyme concentration or activity	2072	ERCC4	ORPHA:90321
HP:0012379	Abnormal circulating enzyme concentration or activity	2072	ERCC4	OMIM:610965
HP:0012379	Abnormal circulating enzyme concentration or activity	79848	CSPP1	ORPHA:397715
HP:0012379	Abnormal circulating enzyme concentration or activity	9786	KIAA0586	ORPHA:397715
HP:0012379	Abnormal circulating enzyme concentration or activity	6729	SRP54	OMIM:618752
HP:0012379	Abnormal circulating enzyme concentration or activity	6729	SRP54	OMIM:260400
HP:0012379	Abnormal circulating enzyme concentration or activity	79947	DHDDS	OMIM:613861
HP:0012379	Abnormal circulating enzyme concentration or activity	9200	HACD1	OMIM:619967
HP:0012379	Abnormal circulating enzyme concentration or activity	55768	NGLY1	ORPHA:404454
HP:0012379	Abnormal circulating enzyme concentration or activity	55768	NGLY1	OMIM:615273
HP:0012379	Abnormal circulating enzyme concentration or activity	134218	DNAJC21	ORPHA:811
HP:0012379	Abnormal circulating enzyme concentration or activity	134218	DNAJC21	OMIM:260400
HP:0012379	Abnormal circulating enzyme concentration or activity	79631	EFL1	ORPHA:811
HP:0012379	Abnormal circulating enzyme concentration or activity	51119	SBDS	ORPHA:811
HP:0012379	Abnormal circulating enzyme concentration or activity	51119	SBDS	OMIM:260400
HP:0012379	Abnormal circulating enzyme concentration or activity	54658	UGT1A1	OMIM:143500
HP:0012379	Abnormal circulating enzyme concentration or activity	54658	UGT1A1	OMIM:606785
HP:0012379	Abnormal circulating enzyme concentration or activity	54658	UGT1A1	OMIM:218800
HP:0012379	Abnormal circulating enzyme concentration or activity	5428	POLG	ORPHA:298
HP:0012379	Abnormal circulating enzyme concentration or activity	5428	POLG	OMIM:203700
HP:0012379	Abnormal circulating enzyme concentration or activity	5428	POLG	ORPHA:254892
HP:0012379	Abnormal circulating enzyme concentration or activity	1890	TYMP	ORPHA:298
HP:0012379	Abnormal circulating enzyme concentration or activity	3980	LIG3	ORPHA:298
HP:0012379	Abnormal circulating enzyme concentration or activity	50484	RRM2B	ORPHA:298
HP:0012379	Abnormal circulating enzyme concentration or activity	50484	RRM2B	ORPHA:254892
HP:0012379	Abnormal circulating enzyme concentration or activity	1738	DLD	ORPHA:2394
HP:0012379	Abnormal circulating enzyme concentration or activity	1738	DLD	OMIM:246900
HP:0012379	Abnormal circulating enzyme concentration or activity	55687	TRMU	OMIM:613070
HP:0012379	Abnormal circulating enzyme concentration or activity	60561	RINT1	OMIM:618641
HP:0012379	Abnormal circulating enzyme concentration or activity	2859	GPR35	ORPHA:171
HP:0012379	Abnormal circulating enzyme concentration or activity	10507	SEMA4D	ORPHA:171
HP:0012379	Abnormal circulating enzyme concentration or activity	4485	MST1	ORPHA:171
HP:0012379	Abnormal circulating enzyme concentration or activity	6925	TCF4	ORPHA:171
HP:0012379	Abnormal circulating enzyme concentration or activity	5896	RAG1	ORPHA:331206
HP:0012379	Abnormal circulating enzyme concentration or activity	5897	RAG2	ORPHA:331206
HP:0012379	Abnormal circulating enzyme concentration or activity	2538	G6PC1	OMIM:232200
HP:0012379	Abnormal circulating enzyme concentration or activity	22897	CEP164	OMIM:614845
HP:0012379	Abnormal circulating enzyme concentration or activity	3117	HLA-DQA1	OMIM:212750
HP:0012379	Abnormal circulating enzyme concentration or activity	3119	HLA-DQB1	OMIM:212750
HP:0012379	Abnormal circulating enzyme concentration or activity	1716	DGUOK	OMIM:251880
HP:0012379	Abnormal circulating enzyme concentration or activity	1716	DGUOK	OMIM:617068
HP:0012379	Abnormal circulating enzyme concentration or activity	10555	AGPAT2	OMIM:608594
HP:0012379	Abnormal circulating enzyme concentration or activity	9377	COX5A	OMIM:619064
HP:0012379	Abnormal circulating enzyme concentration or activity	5424	POLD1	OMIM:615381
HP:0012379	Abnormal circulating enzyme concentration or activity	23166	STAB1	OMIM:620729
HP:0012379	Abnormal circulating enzyme concentration or activity	11232	POLG2	OMIM:610131
HP:0012379	Abnormal circulating enzyme concentration or activity	11232	POLG2	ORPHA:254892
HP:0012379	Abnormal circulating enzyme concentration or activity	84342	COG8	ORPHA:95428
HP:0012379	Abnormal circulating enzyme concentration or activity	84342	COG8	OMIM:611182
HP:0012379	Abnormal circulating enzyme concentration or activity	51021	MRPS16	OMIM:610498
HP:0012379	Abnormal circulating enzyme concentration or activity	63894	VIPAS39	OMIM:613404
HP:0012379	Abnormal circulating enzyme concentration or activity	5373	PMM2	OMIM:212065
HP:0012379	Abnormal circulating enzyme concentration or activity	5373	PMM2	ORPHA:79318
HP:0012379	Abnormal circulating enzyme concentration or activity	1798	DPAGT1	ORPHA:86309
HP:0012379	Abnormal circulating enzyme concentration or activity	1798	DPAGT1	OMIM:608093
HP:0012379	Abnormal circulating enzyme concentration or activity	92482	BBIP1	ORPHA:110
HP:0012379	Abnormal circulating enzyme concentration or activity	80184	CEP290	ORPHA:110
HP:0012379	Abnormal circulating enzyme concentration or activity	11020	IFT27	ORPHA:110
HP:0012379	Abnormal circulating enzyme concentration or activity	582	BBS1	ORPHA:110
HP:0012379	Abnormal circulating enzyme concentration or activity	49855	SCAPER	ORPHA:110
HP:0012379	Abnormal circulating enzyme concentration or activity	4867	NPHP1	ORPHA:110
HP:0012379	Abnormal circulating enzyme concentration or activity	51057	WDPCP	ORPHA:110
HP:0012379	Abnormal circulating enzyme concentration or activity	132320	SCLT1	ORPHA:110
HP:0012379	Abnormal circulating enzyme concentration or activity	27241	BBS9	ORPHA:110
HP:0012379	Abnormal circulating enzyme concentration or activity	84984	CEP19	ORPHA:110
HP:0012379	Abnormal circulating enzyme concentration or activity	22954	TRIM32	ORPHA:110
HP:0012379	Abnormal circulating enzyme concentration or activity	54903	MKS1	ORPHA:110
HP:0012379	Abnormal circulating enzyme concentration or activity	79738	BBS10	ORPHA:110
HP:0012379	Abnormal circulating enzyme concentration or activity	123016	TTC8	ORPHA:110
HP:0012379	Abnormal circulating enzyme concentration or activity	26160	IFT172	ORPHA:110
HP:0012379	Abnormal circulating enzyme concentration or activity	26160	IFT172	OMIM:619471
HP:0012379	Abnormal circulating enzyme concentration or activity	583	BBS2	ORPHA:110
HP:0012379	Abnormal circulating enzyme concentration or activity	585	BBS4	ORPHA:110
HP:0012379	Abnormal circulating enzyme concentration or activity	8195	MKKS	ORPHA:110
HP:0012379	Abnormal circulating enzyme concentration or activity	54585	LZTFL1	ORPHA:110
HP:0012379	Abnormal circulating enzyme concentration or activity	55212	BBS7	ORPHA:110
HP:0012379	Abnormal circulating enzyme concentration or activity	166379	BBS12	ORPHA:110
HP:0012379	Abnormal circulating enzyme concentration or activity	10806	SDCCAG8	ORPHA:110
HP:0012379	Abnormal circulating enzyme concentration or activity	157657	CFAP418	ORPHA:110
HP:0012379	Abnormal circulating enzyme concentration or activity	157657	CFAP418	OMIM:617406
HP:0012379	Abnormal circulating enzyme concentration or activity	84100	ARL6	ORPHA:110
HP:0012379	Abnormal circulating enzyme concentration or activity	129880	BBS5	ORPHA:110
HP:0012379	Abnormal circulating enzyme concentration or activity	80173	IFT74	ORPHA:110
HP:0012379	Abnormal circulating enzyme concentration or activity	51594	NBAS	OMIM:616483
HP:0012379	Abnormal circulating enzyme concentration or activity	54914	FOCAD	OMIM:619991
HP:0012379	Abnormal circulating enzyme concentration or activity	2677	GGCX	OMIM:277450
HP:0012379	Abnormal circulating enzyme concentration or activity	10068	IL18BP	OMIM:618549
HP:0012379	Abnormal circulating enzyme concentration or activity	540	ATP7B	ORPHA:905
HP:0012379	Abnormal circulating enzyme concentration or activity	2321	FLT1	ORPHA:275555
HP:0012379	Abnormal circulating enzyme concentration or activity	219736	STOX1	ORPHA:275555
HP:0012379	Abnormal circulating enzyme concentration or activity	10699	CORIN	ORPHA:275555
HP:0012379	Abnormal circulating enzyme concentration or activity	5836	PYGL	OMIM:232700
HP:0012379	Abnormal circulating enzyme concentration or activity	5836	PYGL	ORPHA:369
HP:0012379	Abnormal circulating enzyme concentration or activity	10056	FARSB	OMIM:613658
HP:0012379	Abnormal circulating enzyme concentration or activity	472	ATM	ORPHA:100
HP:0012379	Abnormal circulating enzyme concentration or activity	5551	PRF1	OMIM:603553
HP:0012379	Abnormal circulating enzyme concentration or activity	5551	PRF1	ORPHA:540
HP:0012379	Abnormal circulating enzyme concentration or activity	6804	STX1A	ORPHA:586
HP:0012379	Abnormal circulating enzyme concentration or activity	2947	GSTM3	ORPHA:586
HP:0012379	Abnormal circulating enzyme concentration or activity	1084	CEACAM3	ORPHA:586
HP:0012379	Abnormal circulating enzyme concentration or activity	6556	SLC11A1	ORPHA:586
HP:0012379	Abnormal circulating enzyme concentration or activity	51164	DCTN4	ORPHA:586
HP:0012379	Abnormal circulating enzyme concentration or activity	4282	MIF	ORPHA:586
HP:0012379	Abnormal circulating enzyme concentration or activity	1909	EDNRA	ORPHA:586
HP:0012379	Abnormal circulating enzyme concentration or activity	6550	SLC9A3	ORPHA:586
HP:0012379	Abnormal circulating enzyme concentration or activity	115019	SLC26A9	ORPHA:586
HP:0012379	Abnormal circulating enzyme concentration or activity	3077	HFE	ORPHA:586
HP:0012379	Abnormal circulating enzyme concentration or activity	3077	HFE	OMIM:235200
HP:0012379	Abnormal circulating enzyme concentration or activity	11254	SLC6A14	ORPHA:586
HP:0012379	Abnormal circulating enzyme concentration or activity	5265	SERPINA1	ORPHA:586
HP:0012379	Abnormal circulating enzyme concentration or activity	5265	SERPINA1	OMIM:613490
HP:0012379	Abnormal circulating enzyme concentration or activity	22802	CLCA4	ORPHA:586
HP:0012379	Abnormal circulating enzyme concentration or activity	4680	CEACAM6	ORPHA:586
HP:0012379	Abnormal circulating enzyme concentration or activity	8818	DPM2	OMIM:615042
HP:0012379	Abnormal circulating enzyme concentration or activity	8818	DPM2	ORPHA:329178
HP:0012379	Abnormal circulating enzyme concentration or activity	7385	UQCRC2	OMIM:615160
HP:0012379	Abnormal circulating enzyme concentration or activity	130340	AP1S3	ORPHA:247353
HP:0012379	Abnormal circulating enzyme concentration or activity	26525	IL36RN	ORPHA:247353
HP:0012379	Abnormal circulating enzyme concentration or activity	25970	SH2B1	ORPHA:329249
HP:0012379	Abnormal circulating enzyme concentration or activity	182	JAG1	OMIM:118450
HP:0012379	Abnormal circulating enzyme concentration or activity	6392	SDHD	ORPHA:100093
HP:0012379	Abnormal circulating enzyme concentration or activity	51128	SAR1B	ORPHA:71
HP:0012379	Abnormal circulating enzyme concentration or activity	91949	COG7	ORPHA:79333
HP:0012379	Abnormal circulating enzyme concentration or activity	9968	MED12	OMIM:301068
HP:0012379	Abnormal circulating enzyme concentration or activity	29127	RACGAP1	ORPHA:98870
HP:0012379	Abnormal circulating enzyme concentration or activity	4846	NOS3	OMIM:189800
HP:0012379	Abnormal circulating enzyme concentration or activity	8813	DPM1	OMIM:608799
HP:0012379	Abnormal circulating enzyme concentration or activity	8813	DPM1	ORPHA:79322
HP:0012379	Abnormal circulating enzyme concentration or activity	5692	PSMB4	OMIM:617591
HP:0012379	Abnormal circulating enzyme concentration or activity	50943	FOXP3	ORPHA:37042
HP:0012379	Abnormal circulating enzyme concentration or activity	5194	PEX13	OMIM:614883
HP:0012379	Abnormal circulating enzyme concentration or activity	57817	HAMP	OMIM:613313
HP:0012379	Abnormal circulating enzyme concentration or activity	57817	HAMP	ORPHA:79230
HP:0012379	Abnormal circulating enzyme concentration or activity	5824	PEX19	OMIM:614886
HP:0012379	Abnormal circulating enzyme concentration or activity	84317	CCDC115	OMIM:616828
HP:0012379	Abnormal circulating enzyme concentration or activity	2184	FAH	OMIM:276700
HP:0012379	Abnormal circulating enzyme concentration or activity	79053	ALG8	ORPHA:79325
HP:0012379	Abnormal circulating enzyme concentration or activity	197322	ACSF3	ORPHA:289504
HP:0012379	Abnormal circulating enzyme concentration or activity	546	ATRX	ORPHA:100075
HP:0012379	Abnormal circulating enzyme concentration or activity	5825	ABCD3	OMIM:616278
HP:0012379	Abnormal circulating enzyme concentration or activity	54344	DPM3	ORPHA:263494
HP:0012379	Abnormal circulating enzyme concentration or activity	54344	DPM3	OMIM:612937
HP:0012379	Abnormal circulating enzyme concentration or activity	51117	COQ4	OMIM:616276
HP:0012379	Abnormal circulating enzyme concentration or activity	51067	YARS2	OMIM:613561
HP:0012379	Abnormal circulating enzyme concentration or activity	284119	CAVIN1	OMIM:613327
HP:0012379	Abnormal circulating enzyme concentration or activity	3242	HPD	OMIM:276710
HP:0012379	Abnormal circulating enzyme concentration or activity	2658	GDF2	OMIM:615506
HP:0012379	Abnormal circulating enzyme concentration or activity	10535	RNASEH2A	ORPHA:51
HP:0012379	Abnormal circulating enzyme concentration or activity	10535	RNASEH2A	OMIM:610333
HP:0012379	Abnormal circulating enzyme concentration or activity	84153	RNASEH2C	ORPHA:51
HP:0012379	Abnormal circulating enzyme concentration or activity	84153	RNASEH2C	OMIM:610329
HP:0012379	Abnormal circulating enzyme concentration or activity	25939	SAMHD1	ORPHA:51
HP:0012379	Abnormal circulating enzyme concentration or activity	79621	RNASEH2B	ORPHA:51
HP:0012379	Abnormal circulating enzyme concentration or activity	103	ADAR	ORPHA:51
HP:0012379	Abnormal circulating enzyme concentration or activity	100147744	RNU7-1	ORPHA:51
HP:0012379	Abnormal circulating enzyme concentration or activity	100147744	RNU7-1	OMIM:619487
HP:0012379	Abnormal circulating enzyme concentration or activity	134353	LSM11	ORPHA:51
HP:0012379	Abnormal circulating enzyme concentration or activity	64135	IFIH1	ORPHA:51
HP:0012379	Abnormal circulating enzyme concentration or activity	435	ASL	ORPHA:23
HP:0012379	Abnormal circulating enzyme concentration or activity	10159	ATP6AP2	OMIM:301045
HP:0012379	Abnormal circulating enzyme concentration or activity	291	SLC25A4	ORPHA:254892
HP:0012379	Abnormal circulating enzyme concentration or activity	56652	TWNK	ORPHA:254892
HP:0012379	Abnormal circulating enzyme concentration or activity	3155	HMGCL	ORPHA:20
HP:0012379	Abnormal circulating enzyme concentration or activity	10466	COG5	ORPHA:263487
HP:0012379	Abnormal circulating enzyme concentration or activity	212	ALAS2	OMIM:300752
HP:0012379	Abnormal circulating enzyme concentration or activity	212	ALAS2	ORPHA:75563
HP:0012379	Abnormal circulating enzyme concentration or activity	81570	CLPB	ORPHA:445038
HP:0012379	Abnormal circulating enzyme concentration or activity	55593	OTUD5	OMIM:301056
HP:0012379	Abnormal circulating enzyme concentration or activity	8676	STX11	ORPHA:540
HP:0012379	Abnormal circulating enzyme concentration or activity	201294	UNC13D	ORPHA:540
HP:0012379	Abnormal circulating enzyme concentration or activity	6813	STXBP2	ORPHA:540
HP:0012379	Abnormal circulating enzyme concentration or activity	5009	OTC	ORPHA:664
HP:0012379	Abnormal circulating enzyme concentration or activity	55182	RNF220	OMIM:619688
HP:0012379	Abnormal circulating enzyme concentration or activity	29998	BICRA	OMIM:619325
HP:0012379	Abnormal circulating enzyme concentration or activity	51601	LIPT1	OMIM:616299
HP:0012379	Abnormal circulating enzyme concentration or activity	79644	SRD5A3	OMIM:612379
HP:0012379	Abnormal circulating enzyme concentration or activity	79644	SRD5A3	ORPHA:324737
HP:0012379	Abnormal circulating enzyme concentration or activity	10166	SLC25A15	ORPHA:415
HP:0012379	Abnormal circulating enzyme concentration or activity	3106	HLA-B	ORPHA:36426
HP:0012379	Abnormal circulating enzyme concentration or activity	10320	IKZF1	ORPHA:36426
HP:0012379	Abnormal circulating enzyme concentration or activity	22796	COG2	OMIM:617395
HP:0012379	Abnormal circulating enzyme concentration or activity	55240	STEAP3	ORPHA:300298
HP:0012379	Abnormal circulating enzyme concentration or activity	537	ATP6AP1	OMIM:300972
HP:0012379	Abnormal circulating enzyme concentration or activity	51218	GLRX5	OMIM:616860
HP:0012379	Abnormal circulating enzyme concentration or activity	11274	USP18	OMIM:617397
HP:0012379	Abnormal circulating enzyme concentration or activity	10616	RBCK1	OMIM:615895
HP:0012379	Abnormal circulating enzyme concentration or activity	708	C1QBP	OMIM:617713
HP:0012379	Abnormal circulating enzyme concentration or activity	3431	SP110	ORPHA:79124
HP:0012379	Abnormal circulating enzyme concentration or activity	5130	PCYT1A	OMIM:620680
HP:0012379	Abnormal circulating enzyme concentration or activity	4547	MTTP	ORPHA:14
HP:0012379	Abnormal circulating enzyme concentration or activity	191	AHCY	ORPHA:88618
HP:0012379	Abnormal circulating enzyme concentration or activity	7289	TULP3	OMIM:619902
HP:0012379	Abnormal circulating enzyme concentration or activity	56623	INPP5E	ORPHA:1454
HP:0012379	Abnormal circulating enzyme concentration or activity	23322	RPGRIP1L	ORPHA:1454
HP:0012379	Abnormal circulating enzyme concentration or activity	57545	CC2D2A	ORPHA:1454
HP:0012379	Abnormal circulating enzyme concentration or activity	57545	CC2D2A	OMIM:619111
HP:0012379	Abnormal circulating enzyme concentration or activity	672	BRCA1	ORPHA:1333
HP:0012379	Abnormal circulating enzyme concentration or activity	285282	RABL3	ORPHA:1333
HP:0012379	Abnormal circulating enzyme concentration or activity	675	BRCA2	ORPHA:1333
HP:0012379	Abnormal circulating enzyme concentration or activity	3845	KRAS	ORPHA:1333
HP:0012379	Abnormal circulating enzyme concentration or activity	1029	CDKN2A	ORPHA:1333
HP:0012379	Abnormal circulating enzyme concentration or activity	79728	PALB2	ORPHA:1333
HP:0012379	Abnormal circulating enzyme concentration or activity	4089	SMAD4	ORPHA:1333
HP:0012379	Abnormal circulating enzyme concentration or activity	23022	PALLD	ORPHA:1333
HP:0012379	Abnormal circulating enzyme concentration or activity	23495	TNFRSF13B	ORPHA:1572
HP:0012379	Abnormal circulating enzyme concentration or activity	4790	NFKB1	ORPHA:1572
HP:0012379	Abnormal circulating enzyme concentration or activity	4791	NFKB2	ORPHA:1572
HP:0012379	Abnormal circulating enzyme concentration or activity	115650	TNFRSF13C	ORPHA:1572
HP:0012379	Abnormal circulating enzyme concentration or activity	1380	CR2	ORPHA:1572
HP:0012379	Abnormal circulating enzyme concentration or activity	8742	TNFSF12	ORPHA:1572
HP:0012379	Abnormal circulating enzyme concentration or activity	930	CD19	ORPHA:1572
HP:0012379	Abnormal circulating enzyme concentration or activity	29851	ICOS	ORPHA:1572
HP:0012379	Abnormal circulating enzyme concentration or activity	931	MS4A1	ORPHA:1572
HP:0012379	Abnormal circulating enzyme concentration or activity	975	CD81	ORPHA:1572
HP:0012379	Abnormal circulating enzyme concentration or activity	359948	IRF2BP2	ORPHA:1572
HP:0012379	Abnormal circulating enzyme concentration or activity	148738	HJV	ORPHA:79230
HP:0012379	Abnormal circulating enzyme concentration or activity	1756	DMD	ORPHA:98895
HP:0012379	Abnormal circulating enzyme concentration or activity	650	BMP2	OMIM:235200
HP:0012379	Abnormal circulating enzyme concentration or activity	51241	COX16	OMIM:619355
HP:0012379	Abnormal circulating enzyme concentration or activity	3975	LHX1	ORPHA:261265
HP:0012379	Abnormal circulating enzyme concentration or activity	10367	MICU1	OMIM:615673
HP:0012379	Abnormal circulating enzyme concentration or activity	26580	BSCL2	OMIM:269700
HP:0012379	Abnormal circulating enzyme concentration or activity	6711	SPTBN1	OMIM:619475
HP:0012379	Abnormal circulating enzyme concentration or activity	51520	LARS1	OMIM:615438
HP:0012379	Abnormal circulating enzyme concentration or activity	4534	MTM1	OMIM:310400
HP:0012379	Abnormal circulating enzyme concentration or activity	7036	TFR2	OMIM:604250
HP:0012379	Abnormal circulating enzyme concentration or activity	215	ABCD1	ORPHA:369942
HP:0012379	Abnormal circulating enzyme concentration or activity	10134	BCAP31	ORPHA:369942
HP:0012379	Abnormal circulating enzyme concentration or activity	440138	ALG11	ORPHA:280071
HP:0012379	Abnormal circulating enzyme concentration or activity	10651	MTX2	OMIM:619127
HP:0012379	Abnormal circulating enzyme concentration or activity	51124	IER3IP1	OMIM:614231
HP:0012379	Abnormal circulating enzyme concentration or activity	28957	MRPS28	OMIM:618958
HP:0012379	Abnormal circulating enzyme concentration or activity	2998	GYS2	ORPHA:2089
HP:0012379	Abnormal circulating enzyme concentration or activity	51703	ACSL5	OMIM:620357
HP:0012379	Abnormal circulating enzyme concentration or activity	100506658	OCLN	OMIM:251290
HP:0012379	Abnormal circulating enzyme concentration or activity	27232	GNMT	OMIM:606664
HP:0012379	Abnormal circulating enzyme concentration or activity	64240	ABCG5	ORPHA:2882
HP:0012379	Abnormal circulating enzyme concentration or activity	2273	FHL1	OMIM:300280
HP:0012379	Abnormal circulating enzyme concentration or activity	1650	DDOST	ORPHA:300536
HP:0012379	Abnormal circulating enzyme concentration or activity	1537	CYC1	OMIM:615453
HP:0012379	Abnormal circulating enzyme concentration or activity	2193	FARSA	OMIM:619013
HP:0012379	Abnormal circulating enzyme concentration or activity	178	AGL	OMIM:232400
HP:0012379	Abnormal circulating enzyme concentration or activity	51099	ABHD5	ORPHA:98907
HP:0012379	Abnormal circulating enzyme concentration or activity	131118	DNAJC19	ORPHA:66634
HP:0012379	Abnormal circulating enzyme concentration or activity	5236	PGM1	OMIM:614921
HP:0012379	Abnormal circulating enzyme concentration or activity	3295	HSD17B4	OMIM:261515
HP:0012379	Abnormal circulating enzyme concentration or activity	10020	GNE	ORPHA:3166
HP:0012379	Abnormal circulating enzyme concentration or activity	8481	OFD1	ORPHA:2750
HP:0012379	Abnormal circulating enzyme concentration or activity	9451	EIF2AK3	ORPHA:1667
HP:0012379	Abnormal circulating enzyme concentration or activity	37	ACADVL	ORPHA:26793
HP:0012379	Abnormal circulating enzyme concentration or activity	4627	MYH9	ORPHA:182050
HP:0012379	Abnormal circulating enzyme concentration or activity	5696	PSMB8	OMIM:256040
HP:0012379	Abnormal circulating enzyme concentration or activity	22909	FAN1	OMIM:614817
HP:0012379	Abnormal circulating enzyme concentration or activity	4337	MOCS1	OMIM:252150
HP:0012379	Abnormal circulating enzyme concentration or activity	9488	PIGB	OMIM:618580
HP:0012379	Abnormal circulating enzyme concentration or activity	3376	IARS1	OMIM:617093
HP:0012379	Abnormal circulating enzyme concentration or activity	79705	LRRK1	OMIM:615198
HP:0012379	Abnormal circulating enzyme concentration or activity	10312	TCIRG1	OMIM:259700
HP:0012379	Abnormal circulating enzyme concentration or activity	10312	TCIRG1	ORPHA:210110
HP:0012379	Abnormal circulating enzyme concentration or activity	5279	PIGC	OMIM:617816
HP:0012379	Abnormal circulating enzyme concentration or activity	5314	PKHD1	ORPHA:53035
HP:0012379	Abnormal circulating enzyme concentration or activity	9420	CYP7B1	ORPHA:79302
HP:0012379	Abnormal circulating enzyme concentration or activity	9420	CYP7B1	OMIM:613812
HP:0012379	Abnormal circulating enzyme concentration or activity	5745	PTH1R	OMIM:600002
HP:0012379	Abnormal circulating enzyme concentration or activity	5745	PTH1R	OMIM:156400
HP:0012379	Abnormal circulating enzyme concentration or activity	128869	PIGU	OMIM:618590
HP:0012379	Abnormal circulating enzyme concentration or activity	10165	SLC25A13	OMIM:605814
HP:0012379	Abnormal circulating enzyme concentration or activity	10165	SLC25A13	ORPHA:247598
HP:0012379	Abnormal circulating enzyme concentration or activity	6514	SLC2A2	OMIM:227810
HP:0012379	Abnormal circulating enzyme concentration or activity	6514	SLC2A2	ORPHA:2088
HP:0012379	Abnormal circulating enzyme concentration or activity	8792	TNFRSF11A	OMIM:174810
HP:0012379	Abnormal circulating enzyme concentration or activity	8792	TNFRSF11A	OMIM:602080
HP:0012379	Abnormal circulating enzyme concentration or activity	5244	ABCB4	OMIM:600803
HP:0012379	Abnormal circulating enzyme concentration or activity	5244	ABCB4	ORPHA:69665
HP:0012379	Abnormal circulating enzyme concentration or activity	10026	PIGK	OMIM:618879
HP:0012379	Abnormal circulating enzyme concentration or activity	5176	SERPINF1	OMIM:613982
HP:0012379	Abnormal circulating enzyme concentration or activity	10686	CLDN16	OMIM:248250
HP:0012379	Abnormal circulating enzyme concentration or activity	120227	CYP2R1	OMIM:600081
HP:0012379	Abnormal circulating enzyme concentration or activity	120227	CYP2R1	ORPHA:289157
HP:0012379	Abnormal circulating enzyme concentration or activity	55650	PIGV	OMIM:239300
HP:0012379	Abnormal circulating enzyme concentration or activity	55650	PIGV	ORPHA:247262
HP:0012379	Abnormal circulating enzyme concentration or activity	56975	FAM20C	OMIM:259775
HP:0012379	Abnormal circulating enzyme concentration or activity	5251	PHEX	OMIM:307800
HP:0012379	Abnormal circulating enzyme concentration or activity	5251	PHEX	ORPHA:89936
HP:0012379	Abnormal circulating enzyme concentration or activity	90	ACVR1	OMIM:135100
HP:0012379	Abnormal circulating enzyme concentration or activity	25839	COG4	ORPHA:263501
HP:0012379	Abnormal circulating enzyme concentration or activity	25839	COG4	OMIM:613489
HP:0012379	Abnormal circulating enzyme concentration or activity	84992	PIGY	ORPHA:247262
HP:0012379	Abnormal circulating enzyme concentration or activity	84992	PIGY	OMIM:616809
HP:0012379	Abnormal circulating enzyme concentration or activity	84720	PIGO	ORPHA:247262
HP:0012379	Abnormal circulating enzyme concentration or activity	84720	PIGO	OMIM:614749
HP:0012379	Abnormal circulating enzyme concentration or activity	93210	PGAP3	ORPHA:247262
HP:0012379	Abnormal circulating enzyme concentration or activity	93210	PGAP3	OMIM:615716
HP:0012379	Abnormal circulating enzyme concentration or activity	284098	PIGW	ORPHA:247262
HP:0012379	Abnormal circulating enzyme concentration or activity	284098	PIGW	OMIM:616025
HP:0012379	Abnormal circulating enzyme concentration or activity	27315	PGAP2	ORPHA:247262
HP:0012379	Abnormal circulating enzyme concentration or activity	27315	PGAP2	OMIM:614207
HP:0012379	Abnormal circulating enzyme concentration or activity	9487	PIGL	ORPHA:247262
HP:0012379	Abnormal circulating enzyme concentration or activity	9487	PIGL	OMIM:280000
HP:0012379	Abnormal circulating enzyme concentration or activity	8647	ABCB11	OMIM:601847
HP:0012379	Abnormal circulating enzyme concentration or activity	8647	ABCB11	OMIM:605479
HP:0012379	Abnormal circulating enzyme concentration or activity	8647	ABCB11	ORPHA:69665
HP:0012379	Abnormal circulating enzyme concentration or activity	3930	LBR	OMIM:613471
HP:0012379	Abnormal circulating enzyme concentration or activity	7019	TFAM	OMIM:617156
HP:0012379	Abnormal circulating enzyme concentration or activity	56172	ANKH	OMIM:123000
HP:0012379	Abnormal circulating enzyme concentration or activity	4358	MPV17	OMIM:256810
HP:0012379	Abnormal circulating enzyme concentration or activity	4982	TNFRSF11B	OMIM:239000
HP:0012379	Abnormal circulating enzyme concentration or activity	3172	HNF4A	ORPHA:263455
HP:0012379	Abnormal circulating enzyme concentration or activity	3172	HNF4A	OMIM:616026
HP:0012379	Abnormal circulating enzyme concentration or activity	1594	CYP27B1	OMIM:264700
HP:0012379	Abnormal circulating enzyme concentration or activity	1594	CYP27B1	ORPHA:289157
HP:0012379	Abnormal circulating enzyme concentration or activity	5277	PIGA	OMIM:300868
HP:0012379	Abnormal circulating enzyme concentration or activity	5277	PIGA	OMIM:301072
HP:0012379	Abnormal circulating enzyme concentration or activity	57511	COG6	OMIM:614576
HP:0012379	Abnormal circulating enzyme concentration or activity	3178	HNRNPA1	OMIM:615424
HP:0012379	Abnormal circulating enzyme concentration or activity	3178	HNRNPA1	OMIM:615426
HP:0012379	Abnormal circulating enzyme concentration or activity	3178	HNRNPA1	ORPHA:52430
HP:0012379	Abnormal circulating enzyme concentration or activity	7421	VDR	OMIM:277440
HP:0012379	Abnormal circulating enzyme concentration or activity	3181	HNRNPA2B1	OMIM:615422
HP:0012379	Abnormal circulating enzyme concentration or activity	3181	HNRNPA2B1	ORPHA:52430
HP:0012379	Abnormal circulating enzyme concentration or activity	54872	PIGG	OMIM:616917
HP:0012379	Abnormal circulating enzyme concentration or activity	6811	STX5	OMIM:620454
HP:0012379	Abnormal circulating enzyme concentration or activity	79736	TEFM	OMIM:620451
HP:0012379	Abnormal circulating enzyme concentration or activity	1576	CYP3A4	OMIM:619073
HP:0012379	Abnormal circulating enzyme concentration or activity	1186	CLCN7	ORPHA:210110
HP:0012379	Abnormal circulating enzyme concentration or activity	9842	PLEKHM1	ORPHA:210110
HP:0012379	Abnormal circulating enzyme concentration or activity	8074	FGF23	ORPHA:89937
HP:0012379	Abnormal circulating enzyme concentration or activity	8074	FGF23	OMIM:193100
HP:0012379	Abnormal circulating enzyme concentration or activity	5311	PKD2	OMIM:613095
HP:0012379	Abnormal circulating enzyme concentration or activity	57003	CCDC47	OMIM:618268
HP:0012379	Abnormal circulating enzyme concentration or activity	142680	SLC34A3	OMIM:241530
HP:0012379	Abnormal circulating enzyme concentration or activity	94005	PIGS	OMIM:618143
HP:0012379	Abnormal circulating enzyme concentration or activity	5828	PEX2	OMIM:614866
HP:0012379	Abnormal circulating enzyme concentration or activity	9091	PIGQ	OMIM:618548
HP:0012379	Abnormal circulating enzyme concentration or activity	5589	PRKCSH	OMIM:174050
HP:0012379	Abnormal circulating enzyme concentration or activity	5589	PRKCSH	ORPHA:2924
HP:0012379	Abnormal circulating enzyme concentration or activity	80025	PANK2	OMIM:234200
HP:0012379	Abnormal circulating enzyme concentration or activity	3594	IL12RB1	ORPHA:186
HP:0012379	Abnormal circulating enzyme concentration or activity	23534	TNPO3	ORPHA:186
HP:0012379	Abnormal circulating enzyme concentration or activity	3592	IL12A	ORPHA:186
HP:0012379	Abnormal circulating enzyme concentration or activity	6689	SPIB	ORPHA:186
HP:0012379	Abnormal circulating enzyme concentration or activity	5450	POU2AF1	ORPHA:186
HP:0012379	Abnormal circulating enzyme concentration or activity	9966	TNFSF15	ORPHA:186
HP:0012379	Abnormal circulating enzyme concentration or activity	79258	MMEL1	ORPHA:186
HP:0012379	Abnormal circulating enzyme concentration or activity	3663	IRF5	ORPHA:186
HP:0012379	Abnormal circulating enzyme concentration or activity	8733	GPAA1	ORPHA:529665
HP:0012379	Abnormal circulating enzyme concentration or activity	2628	GATM	OMIM:134600
HP:0012379	Abnormal circulating enzyme concentration or activity	200931	SLC51A	OMIM:619484
HP:0012379	Abnormal circulating enzyme concentration or activity	5205	ATP8B1	ORPHA:69665
HP:0012379	Abnormal circulating enzyme concentration or activity	9971	NR1H4	ORPHA:69665
HP:0012379	Abnormal circulating enzyme concentration or activity	8878	SQSTM1	OMIM:167250
HP:0012379	Abnormal circulating enzyme concentration or activity	11231	SEC63	ORPHA:2924
HP:0012379	Abnormal circulating enzyme concentration or activity	4041	LRP5	ORPHA:2924
HP:0012379	Abnormal circulating enzyme concentration or activity	51473	DCDC2	ORPHA:84081
HP:0012379	Abnormal circulating enzyme concentration or activity	91147	TMEM67	ORPHA:84081
HP:0012379	Abnormal circulating enzyme concentration or activity	617	BCS1L	OMIM:124000
HP:0012379	Abnormal circulating enzyme concentration or activity	7415	VCP	ORPHA:52430
HP:0012379	Abnormal circulating enzyme concentration or activity	7415	VCP	ORPHA:329475
HP:0012379	Abnormal circulating enzyme concentration or activity	50964	SOST	OMIM:122860
HP:0012379	Abnormal circulating enzyme concentration or activity	23387	SIK3	OMIM:618162
HP:0012379	Abnormal circulating enzyme concentration or activity	811	CALR	ORPHA:131
HP:0012379	Abnormal circulating enzyme concentration or activity	3717	JAK2	ORPHA:131
HP:0012379	Abnormal circulating enzyme concentration or activity	2153	F5	ORPHA:131
HP:0012379	Abnormal circulating enzyme concentration or activity	79989	IFT56	OMIM:619534
HP:0012379	Abnormal circulating enzyme concentration or activity	5167	ENPP1	OMIM:613312
HP:0012379	Abnormal circulating enzyme concentration or activity	2591	GALNT3	OMIM:211900
HP:0012379	Abnormal circulating enzyme concentration or activity	5557	PRIM1	OMIM:620005
HP:0012379	Abnormal circulating enzyme concentration or activity	54532	USP53	OMIM:619658
HP:0012379	Abnormal circulating enzyme concentration or activity	63916	ELMO2	OMIM:606893
HP:0012379	Abnormal circulating enzyme concentration or activity	147007	TMEM199	OMIM:616829
HP:0012379	Abnormal circulating enzyme concentration or activity	6522	SLC4A2	OMIM:620366
HP:0012379	Abnormal circulating enzyme concentration or activity	166929	SGMS2	OMIM:126550
HP:0012379	Abnormal circulating enzyme concentration or activity	60681	FKBP10	OMIM:610968
HP:0012379	Abnormal circulating enzyme concentration or activity	11277	TREX1	ORPHA:247691
HP:0012379	Abnormal circulating enzyme concentration or activity	55151	TMEM38B	OMIM:615066
HP:0012379	Abnormal circulating enzyme concentration or activity	113220	KIF12	OMIM:619662
HP:0012379	Abnormal circulating enzyme concentration or activity	335	APOA1	OMIM:620657
HP:0012379	Abnormal circulating enzyme concentration or activity	57592	ZNF687	OMIM:616833
HP:0012379	Abnormal circulating enzyme concentration or activity	6309	SC5D	OMIM:607330
HP:0012379	Abnormal circulating enzyme concentration or activity	4688	NCF2	OMIM:233710
HP:0012379	Abnormal circulating enzyme concentration or activity	133686	NADK2	ORPHA:431361
HP:0012379	Abnormal circulating enzyme concentration or activity	1536	CYBB	OMIM:306400
HP:0012379	Abnormal circulating enzyme concentration or activity	653361	NCF1	OMIM:233700
HP:0012379	Abnormal circulating enzyme concentration or activity	1535	CYBA	OMIM:233690
HP:0012379	Abnormal circulating enzyme concentration or activity	2395	FXN	OMIM:229300
HP:0012379	Abnormal circulating enzyme concentration or activity	326625	MMAB	OMIM:251110
HP:0012379	Abnormal circulating enzyme concentration or activity	166785	MMAA	OMIM:251100
HP:0012379	Abnormal circulating enzyme concentration or activity	5631	PRPS1	ORPHA:411543
HP:0012379	Abnormal circulating enzyme concentration or activity	5631	PRPS1	ORPHA:411536
HP:0012379	Abnormal circulating enzyme concentration or activity	5631	PRPS1	OMIM:300661
HP:0012379	Abnormal circulating enzyme concentration or activity	2937	GSS	OMIM:231900
HP:0012379	Abnormal circulating enzyme concentration or activity	3029	HAGH	OMIM:614033
HP:0012379	Abnormal circulating enzyme concentration or activity	7372	UMPS	OMIM:258900
HP:0012379	Abnormal circulating enzyme concentration or activity	249	ALPL	OMIM:146300
HP:0012379	Abnormal circulating enzyme concentration or activity	249	ALPL	OMIM:241500
HP:0012379	Abnormal circulating enzyme concentration or activity	249	ALPL	OMIM:241510
HP:0012379	Abnormal circulating enzyme concentration or activity	55630	SLC39A4	OMIM:201100
HP:0012379	Abnormal circulating enzyme concentration or activity	497661	C18orf32	OMIM:619985
HP:0012379	Abnormal circulating enzyme concentration or activity	51604	PIGT	ORPHA:369837
HP:0012379	Abnormal circulating enzyme concentration or activity	10577	NPC2	OMIM:607625
HP:0012379	Abnormal circulating enzyme concentration or activity	4864	NPC1	OMIM:257220
HP:0012379	Abnormal circulating enzyme concentration or activity	5095	PCCA	ORPHA:35
HP:0012379	Abnormal circulating enzyme concentration or activity	5095	PCCA	OMIM:606054
HP:0012379	Abnormal circulating enzyme concentration or activity	5096	PCCB	ORPHA:35
HP:0012379	Abnormal circulating enzyme concentration or activity	5096	PCCB	OMIM:606054
HP:0012379	Abnormal circulating enzyme concentration or activity	64087	MCCC2	OMIM:210210
HP:0012379	Abnormal circulating enzyme concentration or activity	4552	MTRR	OMIM:236270
HP:0012379	Abnormal circulating enzyme concentration or activity	55788	LMBRD1	OMIM:277380
HP:0012379	Abnormal circulating enzyme concentration or activity	5826	ABCD4	OMIM:614857
HP:0012379	Abnormal circulating enzyme concentration or activity	4548	MTR	OMIM:250940
HP:0012379	Abnormal circulating enzyme concentration or activity	27249	MMADHC	OMIM:277410
HP:0012379	Abnormal circulating enzyme concentration or activity	5052	PRDX1	OMIM:277400
HP:0012379	Abnormal circulating enzyme concentration or activity	25974	MMACHC	OMIM:277400
HP:0012379	Abnormal circulating enzyme concentration or activity	217	ALDH2	OMIM:610251
HP:0012379	Abnormal circulating enzyme concentration or activity	7498	XDH	OMIM:278300
HP:0012379	Abnormal circulating enzyme concentration or activity	2271	FH	OMIM:606812
HP:0012379	Abnormal circulating enzyme concentration or activity	2271	FH	OMIM:150800
HP:0012379	Abnormal circulating enzyme concentration or activity	84572	GNPTG	OMIM:252605
HP:0012379	Abnormal circulating enzyme concentration or activity	79158	GNPTAB	OMIM:252600
HP:0012379	Abnormal circulating enzyme concentration or activity	79158	GNPTAB	OMIM:252500
HP:0012379	Abnormal circulating enzyme concentration or activity	2821	GPI	OMIM:613470
HP:0012379	Abnormal circulating enzyme concentration or activity	10243	GPHN	OMIM:615501
HP:0012379	Abnormal circulating enzyme concentration or activity	4338	MOCS2	OMIM:252160
HP:0012379	Abnormal circulating enzyme concentration or activity	6821	SUOX	OMIM:272300
HP:0012379	Abnormal circulating enzyme concentration or activity	1806	DPYD	OMIM:274270
HP:0012379	Abnormal circulating enzyme concentration or activity	1806	DPYD	ORPHA:1675
HP:0012379	Abnormal circulating enzyme concentration or activity	1807	DPYS	OMIM:222748
HP:0012379	Abnormal circulating enzyme concentration or activity	4247	MGAT2	ORPHA:79329
HP:0012379	Abnormal circulating enzyme concentration or activity	10483	SEC23B	OMIM:224100
HP:0012379	Abnormal circulating enzyme concentration or activity	146059	CDAN1	OMIM:224120
HP:0012379	Abnormal circulating enzyme concentration or activity	2629	GBA1	ORPHA:77260
HP:0012379	Abnormal circulating enzyme concentration or activity	2629	GBA1	ORPHA:85212
HP:0012379	Abnormal circulating enzyme concentration or activity	2629	GBA1	OMIM:231000
HP:0012379	Abnormal circulating enzyme concentration or activity	2629	GBA1	ORPHA:77259
HP:0012379	Abnormal circulating enzyme concentration or activity	950	SCARB2	ORPHA:77259
HP:0012379	Abnormal circulating enzyme concentration or activity	7227	TRPS1	OMIM:190350
HP:0012379	Abnormal circulating enzyme concentration or activity	633	BGN	OMIM:300106
HP:0012379	Abnormal circulating enzyme concentration or activity	5281	PIGF	OMIM:619356
HP:0012379	Abnormal circulating enzyme concentration or activity	3156	HMGCR	OMIM:620375
HP:0012379	Abnormal circulating enzyme concentration or activity	5283	PIGH	OMIM:618010
HP:0012379	Abnormal circulating enzyme concentration or activity	6928	HNF1B	OMIM:137920
HP:0012379	Abnormal circulating enzyme concentration or activity	25	ABL1	OMIM:608232
HP:0012379	Abnormal circulating enzyme concentration or activity	613	BCR	OMIM:608232
HP:0012379	Abnormal circulating enzyme concentration or activity	5053	PAH	OMIM:261600
HP:0012379	Abnormal circulating enzyme concentration or activity	2720	GLB1	OMIM:253010
HP:0012379	Abnormal circulating enzyme concentration or activity	2720	GLB1	OMIM:230650
HP:0012379	Abnormal circulating enzyme concentration or activity	2720	GLB1	OMIM:230500
HP:0012379	Abnormal circulating enzyme concentration or activity	2720	GLB1	OMIM:230600
HP:0012379	Abnormal circulating enzyme concentration or activity	2720	GLB1	ORPHA:79255
HP:0012379	Abnormal circulating enzyme concentration or activity	5476	CTSA	OMIM:256540
HP:0012379	Abnormal circulating enzyme concentration or activity	2582	GALE	OMIM:230350
HP:0012379	Abnormal circulating enzyme concentration or activity	1441	CSF3R	OMIM:162830
HP:0012379	Abnormal circulating enzyme concentration or activity	4883	NPR3	OMIM:619543
HP:0012379	Abnormal circulating enzyme concentration or activity	6569	SLC34A1	ORPHA:157215
HP:0012379	Abnormal circulating enzyme concentration or activity	1758	DMP1	ORPHA:289176
HP:0012379	Abnormal circulating enzyme concentration or activity	368	ABCC6	ORPHA:51608
HP:0012379	Abnormal circulating enzyme concentration or activity	4882	NPR2	OMIM:615923
HP:0012379	Abnormal circulating enzyme concentration or activity	1497	CTNS	ORPHA:411634
HP:0012379	Abnormal circulating enzyme concentration or activity	2099	ESR1	ORPHA:785
HP:0012379	Abnormal circulating enzyme concentration or activity	2639	GCDH	ORPHA:25
HP:0012379	Abnormal circulating enzyme concentration or activity	4524	MTHFR	ORPHA:395
HP:0012379	Abnormal circulating enzyme concentration or activity	10841	FTCD	ORPHA:51208
HP:0012379	Abnormal circulating enzyme concentration or activity	1593	CYP27A1	ORPHA:909
HP:0012379	Abnormal circulating enzyme concentration or activity	3795	KHK	ORPHA:2056
HP:0012379	Abnormal circulating enzyme concentration or activity	22845	DOLK	ORPHA:91131
HP:0012379	Abnormal circulating enzyme concentration or activity	8659	ALDH4A1	ORPHA:79101
HP:0012379	Abnormal circulating enzyme concentration or activity	132158	GLYCTK	ORPHA:941
HP:0012379	Abnormal circulating enzyme concentration or activity	415	ARSL	ORPHA:79345
HP:0012379	Abnormal circulating enzyme concentration or activity	10128	LRPPRC	ORPHA:70472
HP:0012379	Abnormal circulating enzyme concentration or activity	6718	AKR1D1	ORPHA:79303
HP:0012379	Abnormal circulating enzyme concentration or activity	2203	FBP1	ORPHA:348
HP:0012379	Abnormal circulating enzyme concentration or activity	85365	ALG2	ORPHA:79326
HP:0012379	Abnormal circulating enzyme concentration or activity	4125	MAN2B1	ORPHA:309282
HP:0012379	Abnormal circulating enzyme concentration or activity	3028	HSD17B10	ORPHA:391457
HP:0012379	Abnormal circulating enzyme concentration or activity	3028	HSD17B10	ORPHA:391428
HP:0012379	Abnormal circulating enzyme concentration or activity	57104	PNPLA2	ORPHA:565612
HP:0012379	Abnormal circulating enzyme concentration or activity	2548	GAA	ORPHA:308552
HP:0012379	Abnormal circulating enzyme concentration or activity	443	ASPA	ORPHA:314918
HP:0012379	Abnormal circulating enzyme concentration or activity	10157	AASS	ORPHA:2203
HP:0012379	Abnormal circulating enzyme concentration or activity	79048	SECISBP2	ORPHA:171706
HP:0012379	Abnormal circulating enzyme concentration or activity	1356	CP	ORPHA:48818
HP:0012379	Abnormal circulating enzyme concentration or activity	23600	AMACR	ORPHA:79095
HP:0012379	Abnormal circulating enzyme concentration or activity	8292	COLQ	ORPHA:98915
HP:0012379	Abnormal circulating enzyme concentration or activity	3913	LAMB2	ORPHA:98915
HP:0012379	Abnormal circulating enzyme concentration or activity	2581	GALC	ORPHA:206448
HP:0012379	Abnormal circulating enzyme concentration or activity	2581	GALC	ORPHA:206436
HP:0012379	Abnormal circulating enzyme concentration or activity	2683	B4GALT1	ORPHA:79332
HP:0012379	Abnormal circulating enzyme concentration or activity	353	APRT	ORPHA:976
HP:0012379	Abnormal circulating enzyme concentration or activity	2542	SLC37A4	ORPHA:79259
HP:0012379	Abnormal circulating enzyme concentration or activity	3423	IDS	ORPHA:217093
HP:0012379	Abnormal circulating enzyme concentration or activity	3423	IDS	ORPHA:217085
HP:0012379	Abnormal circulating enzyme concentration or activity	2592	GALT	ORPHA:79239
HP:0012379	Abnormal circulating enzyme concentration or activity	427	ASAH1	ORPHA:333
HP:0012379	Abnormal circulating enzyme concentration or activity	427	ASAH1	ORPHA:2590
HP:0012379	Abnormal circulating enzyme concentration or activity	55129	ANO10	ORPHA:284289
HP:0012379	Abnormal circulating enzyme concentration or activity	4351	MPI	ORPHA:79319
HP:0012379	Abnormal circulating enzyme concentration or activity	590	BCHE	ORPHA:132
HP:0012379	Abnormal circulating enzyme concentration or activity	84340	GFM2	ORPHA:565624
HP:0012379	Abnormal circulating enzyme concentration or activity	210	ALAD	ORPHA:100924
HP:0012379	Abnormal circulating enzyme concentration or activity	130589	GALM	ORPHA:570422
HP:0012379	Abnormal circulating enzyme concentration or activity	11181	TREH	ORPHA:103909
HP:0012379	Abnormal circulating enzyme concentration or activity	29958	DMGDH	ORPHA:243343
HP:0012379	Abnormal circulating enzyme concentration or activity	5257	PHKB	ORPHA:79240
HP:0012379	Abnormal circulating enzyme concentration or activity	5660	PSAP	ORPHA:206436
HP:0012379	Abnormal circulating enzyme concentration or activity	29929	ALG6	ORPHA:79320
HP:0012379	Abnormal circulating enzyme concentration or activity	10195	ALG3	ORPHA:79321
HP:0012379	Abnormal circulating enzyme concentration or activity	1737	DLAT	ORPHA:79244
HP:0012379	Abnormal circulating enzyme concentration or activity	5351	PLOD1	ORPHA:1900
HP:0012379	Abnormal circulating enzyme concentration or activity	9526	MPDU1	ORPHA:79323
HP:0012379	Abnormal circulating enzyme concentration or activity	79087	ALG12	ORPHA:79324
HP:0012379	Abnormal circulating enzyme concentration or activity	7389	UROD	ORPHA:95159
HP:0012379	Abnormal circulating enzyme concentration or activity	8802	SUCLG1	ORPHA:17
HP:0012379	Abnormal circulating enzyme concentration or activity	5256	PHKA2	ORPHA:264580
HP:0012379	Abnormal circulating enzyme concentration or activity	5261	PHKG2	ORPHA:264580
HP:0012379	Abnormal circulating enzyme concentration or activity	10352	WARS2	ORPHA:572798
HP:0012379	Abnormal circulating enzyme concentration or activity	5498	PPOX	ORPHA:79473
HP:0012379	Abnormal circulating enzyme concentration or activity	28234	SLCO1B3	ORPHA:3111
HP:0012379	Abnormal circulating enzyme concentration or activity	10599	SLCO1B1	ORPHA:3111
HP:0012379	Abnormal circulating enzyme concentration or activity	3145	HMBS	ORPHA:79276
HP:0012379	Abnormal circulating enzyme concentration or activity	760	CA2	ORPHA:2785
HP:0012379	Abnormal circulating enzyme concentration or activity	11330	CTRC	ORPHA:676
HP:0012379	Abnormal circulating enzyme concentration or activity	5644	PRSS1	ORPHA:676
HP:0012379	Abnormal circulating enzyme concentration or activity	5645	PRSS2	ORPHA:676
HP:0012379	Abnormal circulating enzyme concentration or activity	6690	SPINK1	ORPHA:676
HP:0012379	Abnormal circulating enzyme concentration or activity	55503	TRPV6	ORPHA:676
HP:0012379	Abnormal circulating enzyme concentration or activity	846	CASR	ORPHA:676
HP:0012379	Abnormal circulating enzyme concentration or activity	1080	CFTR	ORPHA:676
HP:0012379	Abnormal circulating enzyme concentration or activity	1357	CPA1	ORPHA:676
HP:0012379	Abnormal circulating enzyme concentration or activity	54808	DYM	ORPHA:239
HP:0012379	Abnormal circulating enzyme concentration or activity	2584	GALK1	ORPHA:79237
HP:0012379	Abnormal circulating enzyme concentration or activity	64374	SIL1	ORPHA:559
HP:0012379	Abnormal circulating enzyme concentration or activity	84892	POMGNT2	ORPHA:899
HP:0012379	Abnormal circulating enzyme concentration or activity	148789	B3GALNT2	ORPHA:899
HP:0012379	Abnormal circulating enzyme concentration or activity	79147	FKRP	ORPHA:899
HP:0012379	Abnormal circulating enzyme concentration or activity	29954	POMT2	ORPHA:899
HP:0012379	Abnormal circulating enzyme concentration or activity	9215	LARGE1	ORPHA:899
HP:0012379	Abnormal circulating enzyme concentration or activity	1282	COL4A1	ORPHA:899
HP:0012379	Abnormal circulating enzyme concentration or activity	729920	CRPPA	ORPHA:899
HP:0012379	Abnormal circulating enzyme concentration or activity	10329	RXYLT1	ORPHA:899
HP:0012379	Abnormal circulating enzyme concentration or activity	1605	DAG1	ORPHA:899
HP:0012379	Abnormal circulating enzyme concentration or activity	11041	B4GAT1	ORPHA:899
HP:0012379	Abnormal circulating enzyme concentration or activity	10585	POMT1	ORPHA:899
HP:0012379	Abnormal circulating enzyme concentration or activity	84197	POMK	ORPHA:899
HP:0012379	Abnormal circulating enzyme concentration or activity	2218	FKTN	ORPHA:899
HP:0012379	Abnormal circulating enzyme concentration or activity	55624	POMGNT1	ORPHA:899
HP:0012379	Abnormal circulating enzyme concentration or activity	847	CAT	ORPHA:926
HP:0012379	Abnormal circulating enzyme concentration or activity	847	CAT	OMIM:614097
HP:0012379	Abnormal circulating enzyme concentration or activity	5213	PFKM	OMIM:232800
HP:0012379	Abnormal circulating enzyme concentration or activity	128989	TANGO2	OMIM:616878
HP:0012379	Abnormal circulating enzyme concentration or activity	84033	OBSCN	ORPHA:99845
HP:0012379	Abnormal circulating enzyme concentration or activity	23175	LPIN1	ORPHA:99845
HP:0012379	Abnormal circulating enzyme concentration or activity	4512	MT-CO1	ORPHA:99845
HP:0012379	Abnormal circulating enzyme concentration or activity	4514	MT-CO3	ORPHA:99845
HP:0012379	Abnormal circulating enzyme concentration or activity	7040	TGFB1	ORPHA:1328
HP:0012379	Abnormal circulating enzyme concentration or activity	3339	HSPG2	ORPHA:800
HP:0012379	Abnormal circulating enzyme concentration or activity	226	ALDOA	ORPHA:57
HP:0012379	Abnormal circulating enzyme concentration or activity	229	ALDOB	ORPHA:469
HP:0012379	Abnormal circulating enzyme concentration or activity	3938	LCT	OMIM:223000
HP:0012379	Abnormal circulating enzyme concentration or activity	4175	MCM6	OMIM:223100
HP:0012379	Abnormal circulating enzyme concentration or activity	3931	LCAT	OMIM:245900
HP:0012379	Abnormal circulating enzyme concentration or activity	3043	HBB	ORPHA:232
HP:0012379	Abnormal circulating enzyme concentration or activity	9056	SLC7A7	ORPHA:470
HP:0012379	Abnormal circulating enzyme concentration or activity	4952	OCRL	OMIM:300555
HP:0012379	Abnormal circulating enzyme concentration or activity	4952	OCRL	OMIM:309000
HP:0012379	Abnormal circulating enzyme concentration or activity	3123	HLA-DRB1	ORPHA:747
HP:0012379	Abnormal circulating enzyme concentration or activity	3123	HLA-DRB1	ORPHA:545
HP:0012379	Abnormal circulating enzyme concentration or activity	4352	MPL	ORPHA:824
HP:0012379	Abnormal circulating enzyme concentration or activity	6775	STAT4	ORPHA:93552
HP:0012379	Abnormal circulating enzyme concentration or activity	6696	SPP1	ORPHA:93552
HP:0012379	Abnormal circulating enzyme concentration or activity	6303	SAT1	ORPHA:93552
HP:0012379	Abnormal circulating enzyme concentration or activity	3654	IRAK1	ORPHA:93552
HP:0012379	Abnormal circulating enzyme concentration or activity	596	BCL2	ORPHA:545
HP:0012379	Abnormal circulating enzyme concentration or activity	3492	IGH	ORPHA:545
HP:0012379	Abnormal circulating enzyme concentration or activity	604	BCL6	ORPHA:545
HP:0012379	Abnormal circulating enzyme concentration or activity	79650	USB1	OMIM:604173
HP:0012379	Abnormal circulating enzyme concentration or activity	5339	PLEC	ORPHA:254361
HP:0012379	Abnormal circulating enzyme concentration or activity	4609	MYC	ORPHA:543
HP:0012379	Abnormal circulating enzyme concentration or activity	6573	SLC19A1	OMIM:601775
HP:0012379	Abnormal circulating enzyme concentration or activity	4522	MTHFD1	OMIM:617780
HP:0012379	Abnormal circulating enzyme concentration or activity	57169	ZNFX1	OMIM:619644
HP:0012379	Abnormal circulating enzyme concentration or activity	3162	HMOX1	OMIM:614034
HP:0012379	Abnormal circulating enzyme concentration or activity	1376	CPT2	OMIM:600649
HP:0012379	Abnormal circulating enzyme concentration or activity	23230	VPS13A	OMIM:200150
HP:0012379	Abnormal circulating enzyme concentration or activity	23230	VPS13A	ORPHA:2388
HP:0012379	Abnormal circulating enzyme concentration or activity	6786	STIM1	OMIM:185070
HP:0012379	Abnormal circulating enzyme concentration or activity	3075	CFH	ORPHA:244242
HP:0012379	Abnormal circulating enzyme concentration or activity	3426	CFI	ORPHA:244242
HP:0012379	Abnormal circulating enzyme concentration or activity	4179	CD46	ORPHA:244242
HP:0012379	Abnormal circulating enzyme concentration or activity	101101692	HELLPAR	ORPHA:244242
HP:0012379	Abnormal circulating enzyme concentration or activity	10531	PITRM1	OMIM:619405
HP:0012379	Abnormal circulating enzyme concentration or activity	5294	PIK3CG	OMIM:619802
HP:0012379	Abnormal circulating enzyme concentration or activity	5698	PSMB9	OMIM:620796
HP:0012379	Abnormal circulating enzyme concentration or activity	2729	GCLC	OMIM:230450
HP:0012379	Abnormal circulating enzyme concentration or activity	54888	NSUN2	OMIM:611091
HP:0012379	Abnormal circulating enzyme concentration or activity	339855	KY	OMIM:617114
HP:0012379	Abnormal circulating enzyme concentration or activity	2694	CBLIF	OMIM:261000
HP:0012379	Abnormal circulating enzyme concentration or activity	6208	RPS14	ORPHA:86841
HP:0012379	Abnormal circulating enzyme concentration or activity	10661	KLF1	OMIM:613673
HP:0012379	Abnormal circulating enzyme concentration or activity	859	CAV3	OMIM:614321
HP:0012379	Abnormal circulating enzyme concentration or activity	54543	TOMM7	OMIM:620601
HP:0012379	Abnormal circulating enzyme concentration or activity	8398	PLA2G6	ORPHA:35069
HP:0012379	Abnormal circulating enzyme concentration or activity	1719	DHFR	OMIM:613839
HP:0012379	Abnormal circulating enzyme concentration or activity	6521	SLC4A1	ORPHA:3202
HP:0012379	Abnormal circulating enzyme concentration or activity	9780	PIEZO1	ORPHA:3202
HP:0012379	Abnormal circulating enzyme concentration or activity	3783	KCNN4	ORPHA:3202
HP:0012379	Abnormal circulating enzyme concentration or activity	6005	RHAG	ORPHA:3203
HP:0012379	Abnormal circulating enzyme concentration or activity	6005	RHAG	ORPHA:71275
HP:0012379	Abnormal circulating enzyme concentration or activity	64241	ABCG8	OMIM:210250
HP:0012379	Abnormal circulating enzyme concentration or activity	1130	LYST	ORPHA:167
HP:0012379	Abnormal circulating enzyme concentration or activity	3158	HMGCS2	OMIM:605911
HP:0012379	Abnormal circulating enzyme concentration or activity	9131	AIFM1	OMIM:310490
HP:0012379	Abnormal circulating enzyme concentration or activity	4598	MVK	OMIM:610377
HP:0012379	Abnormal circulating enzyme concentration or activity	90523	MLIP	OMIM:620138
HP:0012379	Abnormal circulating enzyme concentration or activity	28976	ACAD9	ORPHA:99901
HP:0012379	Abnormal circulating enzyme concentration or activity	9493	KIF23	OMIM:105600
HP:0012379	Abnormal circulating enzyme concentration or activity	6006	RHCE	ORPHA:71275
HP:0012379	Abnormal circulating enzyme concentration or activity	6007	RHD	ORPHA:71275
HP:0012379	Abnormal circulating enzyme concentration or activity	2313	FLI1	ORPHA:370348
HP:0012379	Abnormal circulating enzyme concentration or activity	4613	MYCN	ORPHA:635
HP:0012379	Abnormal circulating enzyme concentration or activity	238	ALK	ORPHA:635
HP:0012379	Abnormal circulating enzyme concentration or activity	389421	LIN28B	ORPHA:635
HP:0012379	Abnormal circulating enzyme concentration or activity	4004	LMO1	ORPHA:635
HP:0012379	Abnormal circulating enzyme concentration or activity	57531	HACE1	ORPHA:635
HP:0012379	Abnormal circulating enzyme concentration or activity	8929	PHOX2B	ORPHA:635
HP:0012379	Abnormal circulating enzyme concentration or activity	7840	ALMS1	ORPHA:64
HP:0012379	Abnormal circulating enzyme concentration or activity	57128	LYRM4	OMIM:615595
HP:0012379	Abnormal circulating enzyme concentration or activity	11222	MRPL3	OMIM:614582
HP:0012379	Abnormal circulating enzyme concentration or activity	123264	SLC51B	OMIM:619481
HP:0012379	Abnormal circulating enzyme concentration or activity	197131	UBR1	OMIM:243800
HP:0012379	Abnormal circulating enzyme concentration or activity	7504	XK	OMIM:300842
HP:0012379	Abnormal circulating enzyme concentration or activity	162	AP1B1	OMIM:242150
HP:0012379	Abnormal circulating enzyme concentration or activity	4141	MARS1	OMIM:615486
HP:0012379	Abnormal circulating enzyme concentration or activity	54931	TRMT10C	OMIM:616974
HP:0012379	Abnormal circulating enzyme concentration or activity	6513	SLC2A1	OMIM:608885
HP:0012379	Abnormal circulating enzyme concentration or activity	199221	DZIP1L	ORPHA:731
HP:0012379	Abnormal circulating enzyme concentration or activity	2819	GPD1	OMIM:614480
HP:0012379	Abnormal circulating enzyme concentration or activity	197258	FCSK	OMIM:618324
HP:0012379	Abnormal circulating enzyme concentration or activity	50619	DEF6	OMIM:619573
HP:0012379	Abnormal circulating enzyme concentration or activity	3643	INSR	OMIM:246200
HP:0012379	Abnormal circulating enzyme concentration or activity	125988	MICOS13	OMIM:618329
HP:0012379	Abnormal circulating enzyme concentration or activity	26276	VPS33B	OMIM:208085
HP:0012379	Abnormal circulating enzyme concentration or activity	55340	GIMAP5	OMIM:619463
HP:0012379	Abnormal circulating enzyme concentration or activity	4645	MYO5B	OMIM:619868
HP:0012379	Abnormal circulating enzyme concentration or activity	4067	LYN	OMIM:620376
HP:0012379	Abnormal circulating enzyme concentration or activity	3988	LIPA	OMIM:278000
HP:0012379	Abnormal circulating enzyme concentration or activity	3988	LIPA	OMIM:620151
HP:0012379	Abnormal circulating enzyme concentration or activity	23019	CNOT1	ORPHA:556955
HP:0012379	Abnormal circulating enzyme concentration or activity	171023	ASXL1	ORPHA:98850
HP:0012379	Abnormal circulating enzyme concentration or activity	171023	ASXL1	ORPHA:98849
HP:0012379	Abnormal circulating enzyme concentration or activity	54790	TET2	ORPHA:98850
HP:0012379	Abnormal circulating enzyme concentration or activity	54790	TET2	ORPHA:98849
HP:0012379	Abnormal circulating enzyme concentration or activity	867	CBL	ORPHA:98850
HP:0012379	Abnormal circulating enzyme concentration or activity	861	RUNX1	ORPHA:98850
HP:0012379	Abnormal circulating enzyme concentration or activity	6427	SRSF2	ORPHA:98850
HP:0012379	Abnormal circulating enzyme concentration or activity	6427	SRSF2	ORPHA:98849
HP:0012379	Abnormal circulating enzyme concentration or activity	3815	KIT	ORPHA:98849
HP:0012379	Abnormal circulating enzyme concentration or activity	3815	KIT	ORPHA:79455
HP:0012379	Abnormal circulating enzyme concentration or activity	286053	NSMCE2	OMIM:617253
HP:0012379	Abnormal circulating enzyme concentration or activity	8482	SEMA7A	OMIM:619874
HP:0012379	Abnormal circulating enzyme concentration or activity	65080	MRPL44	OMIM:615395
HP:0012379	Abnormal circulating enzyme concentration or activity	570	BAAT	OMIM:619232
HP:0012379	Abnormal circulating enzyme concentration or activity	7381	UQCRB	OMIM:615158
HP:0012379	Abnormal circulating enzyme concentration or activity	5580	PRKCD	OMIM:615559
HP:0012379	Abnormal circulating enzyme concentration or activity	338	APOB	OMIM:615558
HP:0012379	Abnormal circulating enzyme concentration or activity	3032	HADHB	OMIM:620300
HP:0012379	Abnormal circulating enzyme concentration or activity	55610	VPS50	OMIM:619685
HP:0012379	Abnormal circulating enzyme concentration or activity	6341	SCO1	OMIM:619048
HP:0012379	Abnormal circulating enzyme concentration or activity	5184	PEPD	OMIM:170100
HP:0012379	Abnormal circulating enzyme concentration or activity	8309	ACOX2	OMIM:617308
HP:0012379	Abnormal circulating enzyme concentration or activity	9409	PEX16	OMIM:614876
HP:0012379	Abnormal circulating enzyme concentration or activity	7486	WRN	OMIM:277700
HP:0012379	Abnormal circulating enzyme concentration or activity	51116	MRPS2	OMIM:617950
HP:0012379	Abnormal circulating enzyme concentration or activity	348	APOE	OMIM:269600
HP:0012379	Abnormal circulating enzyme concentration or activity	6240	RRM1	OMIM:620647
HP:0012379	Abnormal circulating enzyme concentration or activity	5195	PEX14	OMIM:614887
HP:0012379	Abnormal circulating enzyme concentration or activity	55858	TMEM165	OMIM:614727
HP:0012379	Abnormal circulating enzyme concentration or activity	7841	MOGS	OMIM:606056
HP:0012379	Abnormal circulating enzyme concentration or activity	124454	EARS2	OMIM:614924
HP:0012379	Abnormal circulating enzyme concentration or activity	64121	RRAGC	OMIM:620609
HP:0012379	Abnormal circulating enzyme concentration or activity	9054	NFS1	OMIM:619386
HP:0012379	Abnormal circulating enzyme concentration or activity	1794	DOCK2	OMIM:616433
HP:0012379	Abnormal circulating enzyme concentration or activity	132	ADK	OMIM:614300
HP:0012379	Abnormal circulating enzyme concentration or activity	5105	PCK1	OMIM:261680
HP:0012379	Abnormal circulating enzyme concentration or activity	26007	TKFC	OMIM:618805
HP:0012379	Abnormal circulating enzyme concentration or activity	8772	FADD	OMIM:613759
HP:0012379	Abnormal circulating enzyme concentration or activity	587	BCAT2	OMIM:618850
HP:0012379	Abnormal circulating enzyme concentration or activity	6773	STAT2	OMIM:616636
HP:0012379	Abnormal circulating enzyme concentration or activity	4000	LMNA	OMIM:151660
HP:0012379	Abnormal circulating enzyme concentration or activity	6476	SI	OMIM:222900
HP:0012379	Abnormal circulating enzyme concentration or activity	3074	HEXB	ORPHA:309162
HP:0012379	Abnormal circulating enzyme concentration or activity	3074	HEXB	ORPHA:309155
HP:0012379	Abnormal circulating enzyme concentration or activity	3074	HEXB	ORPHA:309169
HP:0012379	Abnormal circulating enzyme concentration or activity	3074	HEXB	OMIM:268800
HP:0012379	Abnormal circulating enzyme concentration or activity	6609	SMPD1	OMIM:607616
HP:0012379	Abnormal circulating enzyme concentration or activity	4126	MANBA	OMIM:248510
HP:0012379	Abnormal circulating enzyme concentration or activity	2678	GGT1	OMIM:231950
HP:0012379	Abnormal circulating enzyme concentration or activity	79783	SUGCT	OMIM:231690
HP:0012379	Abnormal circulating enzyme concentration or activity	26227	PHGDH	OMIM:601815
HP:0012379	Abnormal circulating enzyme concentration or activity	2517	FUCA1	OMIM:230000
HP:0012379	Abnormal circulating enzyme concentration or activity	2717	GLA	OMIM:301500
HP:0012379	Abnormal circulating enzyme concentration or activity	26873	OPLAH	OMIM:260005
HP:0012379	Abnormal circulating enzyme concentration or activity	7941	PLA2G7	OMIM:614278
HP:0012379	Abnormal circulating enzyme concentration or activity	1053	CEBPE	OMIM:245480
HP:0012379	Abnormal circulating enzyme concentration or activity	34	ACADM	ORPHA:42
HP:0012379	Abnormal circulating enzyme concentration or activity	3939	LDHA	ORPHA:284426
HP:0012379	Abnormal circulating enzyme concentration or activity	2623	GATA1	ORPHA:67044
HP:0012379	Abnormal circulating enzyme concentration or activity	7157	TP53	ORPHA:668
HP:0012379	Abnormal circulating enzyme concentration or activity	5925	RB1	ORPHA:668
HP:0012379	Abnormal circulating enzyme concentration or activity	11200	CHEK2	ORPHA:668
HP:0012379	Abnormal circulating enzyme concentration or activity	3945	LDHB	OMIM:614128
HP:0012379	Abnormal circulating enzyme concentration or activity	3033	HADH	OMIM:231530
HP:0012379	Abnormal circulating enzyme concentration or activity	3033	HADH	ORPHA:71212
HP:0012379	Abnormal circulating enzyme concentration or activity	3030	HADHA	OMIM:609016
HP:0012379	Abnormal circulating enzyme concentration or activity	686	BTD	OMIM:253260
HP:0012379	Abnormal circulating enzyme concentration or activity	686	BTD	ORPHA:79241
HP:0012379	Abnormal circulating enzyme concentration or activity	1644	DDC	OMIM:608643
HP:0012379	Abnormal circulating enzyme concentration or activity	26275	HIBCH	OMIM:250620
HP:0012379	Abnormal circulating enzyme concentration or activity	51	ACOX1	OMIM:264470
HP:0012379	Abnormal circulating enzyme concentration or activity	51251	NT5C3A	OMIM:266120
HP:0012379	Abnormal circulating enzyme concentration or activity	1621	DBH	OMIM:223360
HP:0012379	Abnormal circulating enzyme concentration or activity	1369	CPN1	OMIM:212070
HP:0012379	Abnormal circulating enzyme concentration or activity	51816	ADA2	OMIM:615688
HP:0012379	Abnormal circulating enzyme concentration or activity	788	SLC25A20	OMIM:212138
HP:0012379	Abnormal circulating enzyme concentration or activity	8720	MBTPS1	OMIM:618392
HP:0012379	Abnormal circulating enzyme concentration or activity	3373	HYAL1	OMIM:601492
HP:0002123	Generalized myoclonic seizure	401474	SAMD12	OMIM:601068
HP:0002123	Generalized myoclonic seizure	4558	MT-TF	ORPHA:551
HP:0002123	Generalized myoclonic seizure	4558	MT-TF	OMIM:545000
HP:0002123	Generalized myoclonic seizure	4567	MT-TL1	ORPHA:551
HP:0002123	Generalized myoclonic seizure	4567	MT-TL1	ORPHA:255210
HP:0002123	Generalized myoclonic seizure	4567	MT-TL1	OMIM:545000
HP:0002123	Generalized myoclonic seizure	4549	MT-RNR1	ORPHA:551
HP:0002123	Generalized myoclonic seizure	4574	MT-TS1	ORPHA:551
HP:0002123	Generalized myoclonic seizure	4575	MT-TS2	ORPHA:551
HP:0002123	Generalized myoclonic seizure	4571	MT-TP	ORPHA:551
HP:0002123	Generalized myoclonic seizure	4571	MT-TP	OMIM:545000
HP:0002123	Generalized myoclonic seizure	4572	MT-TQ	ORPHA:551
HP:0002123	Generalized myoclonic seizure	4540	MT-ND5	ORPHA:551
HP:0002123	Generalized myoclonic seizure	4540	MT-ND5	ORPHA:255210
HP:0002123	Generalized myoclonic seizure	4566	MT-TK	ORPHA:551
HP:0002123	Generalized myoclonic seizure	4566	MT-TK	ORPHA:255210
HP:0002123	Generalized myoclonic seizure	4566	MT-TK	OMIM:545000
HP:0002123	Generalized myoclonic seizure	4564	MT-TH	ORPHA:551
HP:0002123	Generalized myoclonic seizure	6323	SCN1A	OMIM:607208
HP:0002123	Generalized myoclonic seizure	6323	SCN1A	ORPHA:2382
HP:0002123	Generalized myoclonic seizure	6323	SCN1A	ORPHA:36387
HP:0002123	Generalized myoclonic seizure	6323	SCN1A	ORPHA:33069
HP:0002123	Generalized myoclonic seizure	6323	SCN1A	OMIM:604403
HP:0002123	Generalized myoclonic seizure	6323	SCN1A	ORPHA:1942
HP:0002123	Generalized myoclonic seizure	57526	PCDH19	ORPHA:101039
HP:0002123	Generalized myoclonic seizure	57526	PCDH19	OMIM:300088
HP:0002123	Generalized myoclonic seizure	57526	PCDH19	ORPHA:33069
HP:0002123	Generalized myoclonic seizure	10059	DNM1L	ORPHA:330050
HP:0002123	Generalized myoclonic seizure	7915	ALDH5A1	ORPHA:22
HP:0002123	Generalized myoclonic seizure	7915	ALDH5A1	OMIM:271980
HP:0002123	Generalized myoclonic seizure	4524	MTHFR	ORPHA:395
HP:0002123	Generalized myoclonic seizure	340533	NEXMIF	OMIM:300912
HP:0002123	Generalized myoclonic seizure	340533	NEXMIF	ORPHA:1942
HP:0002123	Generalized myoclonic seizure	57468	SLC12A5	OMIM:616685
HP:0002123	Generalized myoclonic seizure	1859	DYRK1A	ORPHA:268261
HP:0002123	Generalized myoclonic seizure	343450	KCNT2	OMIM:617771
HP:0002123	Generalized myoclonic seizure	8818	DPM2	ORPHA:329178
HP:0002123	Generalized myoclonic seizure	2720	GLB1	OMIM:230600
HP:0002123	Generalized myoclonic seizure	2896	GRN	OMIM:614706
HP:0002123	Generalized myoclonic seizure	84320	ACBD6	OMIM:620785
HP:0002123	Generalized myoclonic seizure	170302	ARX	OMIM:308350
HP:0002123	Generalized myoclonic seizure	170302	ARX	ORPHA:1934
HP:0002123	Generalized myoclonic seizure	4758	NEU1	ORPHA:93399
HP:0002123	Generalized myoclonic seizure	64324	NSD1	ORPHA:821
HP:0002123	Generalized myoclonic seizure	10297	APC2	ORPHA:821
HP:0002123	Generalized myoclonic seizure	57465	TBC1D24	OMIM:605021
HP:0002123	Generalized myoclonic seizure	57465	TBC1D24	ORPHA:352596
HP:0002123	Generalized myoclonic seizure	57465	TBC1D24	ORPHA:352582
HP:0002123	Generalized myoclonic seizure	501	ALDH7A1	OMIM:266100
HP:0002123	Generalized myoclonic seizure	4535	MT-ND1	ORPHA:255210
HP:0002123	Generalized myoclonic seizure	4536	MT-ND2	ORPHA:255210
HP:0002123	Generalized myoclonic seizure	4537	MT-ND3	ORPHA:255210
HP:0002123	Generalized myoclonic seizure	4538	MT-ND4	ORPHA:255210
HP:0002123	Generalized myoclonic seizure	4578	MT-TW	ORPHA:255210
HP:0002123	Generalized myoclonic seizure	4577	MT-TV	ORPHA:255210
HP:0002123	Generalized myoclonic seizure	4508	MT-ATP6	ORPHA:255210
HP:0002123	Generalized myoclonic seizure	4541	MT-ND6	ORPHA:255210
HP:0002123	Generalized myoclonic seizure	6792	CDKL5	ORPHA:3095
HP:0002123	Generalized myoclonic seizure	6792	CDKL5	OMIM:300672
HP:0002123	Generalized myoclonic seizure	6792	CDKL5	ORPHA:1934
HP:0002123	Generalized myoclonic seizure	22854	NTNG1	ORPHA:3095
HP:0002123	Generalized myoclonic seizure	9568	GABBR2	ORPHA:3095
HP:0002123	Generalized myoclonic seizure	4204	MECP2	ORPHA:3095
HP:0002123	Generalized myoclonic seizure	8243	SMC1A	ORPHA:3095
HP:0002123	Generalized myoclonic seizure	2593	GAMT	ORPHA:382
HP:0002123	Generalized myoclonic seizure	2563	GABRD	OMIM:613060
HP:0002123	Generalized myoclonic seizure	2563	GABRD	ORPHA:36387
HP:0002123	Generalized myoclonic seizure	79587	CARS2	ORPHA:477774
HP:0002123	Generalized myoclonic seizure	1106	CHD2	OMIM:615369
HP:0002123	Generalized myoclonic seizure	1106	CHD2	ORPHA:2382
HP:0002123	Generalized myoclonic seizure	1106	CHD2	ORPHA:1942
HP:0002123	Generalized myoclonic seizure	55768	NGLY1	ORPHA:404454
HP:0002123	Generalized myoclonic seizure	54820	NDE1	OMIM:605013
HP:0002123	Generalized myoclonic seizure	3767	KCNJ11	ORPHA:99885
HP:0002123	Generalized myoclonic seizure	6774	STAT3	ORPHA:99885
HP:0002123	Generalized myoclonic seizure	2645	GCK	ORPHA:99885
HP:0002123	Generalized myoclonic seizure	3651	PDX1	ORPHA:99885
HP:0002123	Generalized myoclonic seizure	6833	ABCC8	ORPHA:99885
HP:0002123	Generalized myoclonic seizure	3630	INS	ORPHA:99885
HP:0002123	Generalized myoclonic seizure	154881	KCTD7	OMIM:611726
HP:0002123	Generalized myoclonic seizure	10166	SLC25A15	ORPHA:415
HP:0002123	Generalized myoclonic seizure	10166	SLC25A15	OMIM:238970
HP:0002123	Generalized myoclonic seizure	427	ASAH1	OMIM:159950
HP:0002123	Generalized myoclonic seizure	427	ASAH1	ORPHA:2590
HP:0002123	Generalized myoclonic seizure	4694	NDUFA1	OMIM:301020
HP:0002123	Generalized myoclonic seizure	150094	SIK1	OMIM:616341
HP:0002123	Generalized myoclonic seizure	150094	SIK1	ORPHA:1934
HP:0002123	Generalized myoclonic seizure	166378	AFG2A	ORPHA:457351
HP:0002123	Generalized myoclonic seizure	116150	NUS1	OMIM:617831
HP:0002123	Generalized myoclonic seizure	79947	DHDDS	OMIM:617836
HP:0002123	Generalized myoclonic seizure	686	BTD	ORPHA:79241
HP:0002123	Generalized myoclonic seizure	10939	AFG3L2	ORPHA:313772
HP:0002123	Generalized myoclonic seizure	10939	AFG3L2	OMIM:614487
HP:0002123	Generalized myoclonic seizure	128989	TANGO2	ORPHA:480864
HP:0002123	Generalized myoclonic seizure	57531	HACE1	ORPHA:464282
HP:0002123	Generalized myoclonic seizure	57531	HACE1	OMIM:616756
HP:0002123	Generalized myoclonic seizure	80856	LNPK	OMIM:618090
HP:0002123	Generalized myoclonic seizure	51651	PTRH2	ORPHA:456312
HP:0002123	Generalized myoclonic seizure	1759	DNM1	ORPHA:2382
HP:0002123	Generalized myoclonic seizure	2562	GABRB3	ORPHA:2382
HP:0002123	Generalized myoclonic seizure	5602	MAPK10	ORPHA:2382
HP:0002123	Generalized myoclonic seizure	773	CACNA1A	ORPHA:2382
HP:0002123	Generalized myoclonic seizure	23316	CUX2	ORPHA:2382
HP:0002123	Generalized myoclonic seizure	23316	CUX2	OMIM:618141
HP:0002123	Generalized myoclonic seizure	4565	MT-TI	OMIM:545000
HP:0002123	Generalized myoclonic seizure	5277	PIGA	OMIM:300868
HP:0002123	Generalized myoclonic seizure	5283	PIGH	OMIM:618010
HP:0002123	Generalized myoclonic seizure	83696	TRAPPC9	ORPHA:352530
HP:0002123	Generalized myoclonic seizure	6785	ELOVL4	OMIM:614457
HP:0002123	Generalized myoclonic seizure	26227	PHGDH	ORPHA:79351
HP:0002123	Generalized myoclonic seizure	144165	PRICKLE1	OMIM:612437
HP:0002123	Generalized myoclonic seizure	6335	SCN9A	ORPHA:36387
HP:0002123	Generalized myoclonic seizure	6335	SCN9A	ORPHA:33069
HP:0002123	Generalized myoclonic seizure	112755	STX1B	ORPHA:36387
HP:0002123	Generalized myoclonic seizure	6326	SCN2A	ORPHA:36387
HP:0002123	Generalized myoclonic seizure	6326	SCN2A	ORPHA:33069
HP:0002123	Generalized myoclonic seizure	6326	SCN2A	ORPHA:1934
HP:0002123	Generalized myoclonic seizure	112476	PRRT2	ORPHA:36387
HP:0002123	Generalized myoclonic seizure	6324	SCN1B	ORPHA:36387
HP:0002123	Generalized myoclonic seizure	6324	SCN1B	ORPHA:33069
HP:0002123	Generalized myoclonic seizure	6324	SCN1B	OMIM:617350
HP:0002123	Generalized myoclonic seizure	6324	SCN1B	ORPHA:1934
HP:0002123	Generalized myoclonic seizure	348980	HCN1	ORPHA:36387
HP:0002123	Generalized myoclonic seizure	2258	FGF13	ORPHA:36387
HP:0002123	Generalized myoclonic seizure	84059	ADGRV1	ORPHA:36387
HP:0002123	Generalized myoclonic seizure	2566	GABRG2	ORPHA:36387
HP:0002123	Generalized myoclonic seizure	2566	GABRG2	ORPHA:33069
HP:0002123	Generalized myoclonic seizure	2629	GBA1	OMIM:231000
HP:0002123	Generalized myoclonic seizure	2629	GBA1	ORPHA:2072
HP:0002123	Generalized myoclonic seizure	2629	GBA1	ORPHA:77261
HP:0002123	Generalized myoclonic seizure	2629	GBA1	ORPHA:77260
HP:0002123	Generalized myoclonic seizure	1798	DPAGT1	ORPHA:86309
HP:0002123	Generalized myoclonic seizure	6611	SMS	ORPHA:3063
HP:0002123	Generalized myoclonic seizure	57061	HYMAI	ORPHA:96191
HP:0002123	Generalized myoclonic seizure	5325	PLAGL1	ORPHA:96191
HP:0002123	Generalized myoclonic seizure	56978	PRDM8	OMIM:616640
HP:0002123	Generalized myoclonic seizure	6812	STXBP1	OMIM:612164
HP:0002123	Generalized myoclonic seizure	6812	STXBP1	ORPHA:599373
HP:0002123	Generalized myoclonic seizure	51604	PIGT	ORPHA:369837
HP:0002123	Generalized myoclonic seizure	10815	CPLX1	OMIM:617976
HP:0002123	Generalized myoclonic seizure	10815	CPLX1	ORPHA:352582
HP:0002123	Generalized myoclonic seizure	4983	OPHN1	ORPHA:137831
HP:0002123	Generalized myoclonic seizure	79751	SLC25A22	OMIM:609304
HP:0002123	Generalized myoclonic seizure	79751	SLC25A22	ORPHA:1934
HP:0002123	Generalized myoclonic seizure	2554	GABRA1	ORPHA:33069
HP:0002123	Generalized myoclonic seizure	378884	NHLRC1	ORPHA:501
HP:0002123	Generalized myoclonic seizure	7957	EPM2A	ORPHA:501
HP:0002123	Generalized myoclonic seizure	7957	EPM2A	OMIM:254780
HP:0002123	Generalized myoclonic seizure	5293	PIK3CD	ORPHA:221139
HP:0002123	Generalized myoclonic seizure	5293	PIK3CD	OMIM:613328
HP:0002123	Generalized myoclonic seizure	90417	KNSTRN	ORPHA:221139
HP:0002123	Generalized myoclonic seizure	90417	KNSTRN	OMIM:613328
HP:0002123	Generalized myoclonic seizure	9289	ADGRG1	ORPHA:101070
HP:0002123	Generalized myoclonic seizure	5728	PTEN	ORPHA:101070
HP:0002123	Generalized myoclonic seizure	51124	IER3IP1	OMIM:614231
HP:0002123	Generalized myoclonic seizure	10991	SLC38A3	OMIM:619881
HP:0002123	Generalized myoclonic seizure	79143	MBOAT7	OMIM:617188
HP:0002123	Generalized myoclonic seizure	283989	TSEN54	ORPHA:2524
HP:0002123	Generalized myoclonic seizure	116461	TSEN15	ORPHA:2524
HP:0002123	Generalized myoclonic seizure	79042	TSEN34	ORPHA:2524
HP:0002123	Generalized myoclonic seizure	80746	TSEN2	ORPHA:2524
HP:0002123	Generalized myoclonic seizure	51091	SEPSECS	ORPHA:2524
HP:0002123	Generalized myoclonic seizure	256471	MFSD8	OMIM:610951
HP:0002123	Generalized myoclonic seizure	114327	EFHC1	OMIM:607631
HP:0002123	Generalized myoclonic seizure	1181	CLCN2	OMIM:607628
HP:0002123	Generalized myoclonic seizure	54802	TRIT1	OMIM:617873
HP:0002123	Generalized myoclonic seizure	84823	LMNB2	OMIM:616540
HP:0002123	Generalized myoclonic seizure	6389	SDHA	ORPHA:3208
HP:0002123	Generalized myoclonic seizure	6390	SDHB	ORPHA:3208
HP:0002123	Generalized myoclonic seizure	6392	SDHD	ORPHA:3208
HP:0002123	Generalized myoclonic seizure	644096	SDHAF1	ORPHA:3208
HP:0002123	Generalized myoclonic seizure	51294	PCDH12	OMIM:251280
HP:0002123	Generalized myoclonic seizure	2055	CLN8	ORPHA:1947
HP:0002123	Generalized myoclonic seizure	2581	GALC	ORPHA:206436
HP:0002123	Generalized myoclonic seizure	5660	PSAP	ORPHA:206436
HP:0002123	Generalized myoclonic seizure	10295	BCKDK	OMIM:614923
HP:0002123	Generalized myoclonic seizure	5048	PAFAH1B1	ORPHA:95232
HP:0002123	Generalized myoclonic seizure	8813	DPM1	ORPHA:79322
HP:0002123	Generalized myoclonic seizure	6513	SLC2A1	ORPHA:1942
HP:0002123	Generalized myoclonic seizure	8831	SYNGAP1	ORPHA:1942
HP:0002123	Generalized myoclonic seizure	1173	AP2M1	ORPHA:1942
HP:0002123	Generalized myoclonic seizure	6529	SLC6A1	ORPHA:1942
HP:0002123	Generalized myoclonic seizure	701	BUB1B	OMIM:257300
HP:0002123	Generalized myoclonic seizure	10243	GPHN	OMIM:615501
HP:0002123	Generalized myoclonic seizure	221927	BRAT1	OMIM:614498
HP:0002123	Generalized myoclonic seizure	22858	CILK1	OMIM:617924
HP:0002123	Generalized myoclonic seizure	3736	KCNA1	ORPHA:1934
HP:0002123	Generalized myoclonic seizure	9091	PIGQ	ORPHA:1934
HP:0002123	Generalized myoclonic seizure	140679	SLC32A1	ORPHA:1934
HP:0002123	Generalized myoclonic seizure	2775	GNAO1	ORPHA:1934
HP:0002123	Generalized myoclonic seizure	81603	TRIM8	ORPHA:1934
HP:0002123	Generalized myoclonic seizure	2902	GRIN1	ORPHA:1934
HP:0002123	Generalized myoclonic seizure	2902	GRIN1	ORPHA:208447
HP:0002123	Generalized myoclonic seizure	8573	CASK	ORPHA:1934
HP:0002123	Generalized myoclonic seizure	23312	DMXL2	ORPHA:1934
HP:0002123	Generalized myoclonic seizure	2917	GRM7	ORPHA:1934
HP:0002123	Generalized myoclonic seizure	11284	PNKP	ORPHA:1934
HP:0002123	Generalized myoclonic seizure	51227	PIGP	ORPHA:1934
HP:0002123	Generalized myoclonic seizure	4761	NEUROD2	ORPHA:1934
HP:0002123	Generalized myoclonic seizure	1719	DHFR	OMIM:613839
HP:0002123	Generalized myoclonic seizure	6334	SCN8A	ORPHA:306
HP:0002123	Generalized myoclonic seizure	3785	KCNQ2	ORPHA:306
HP:0002123	Generalized myoclonic seizure	3786	KCNQ3	ORPHA:306
HP:0007076	Extrapyramidal muscular rigidity	10535	RNASEH2A	ORPHA:51
HP:0007076	Extrapyramidal muscular rigidity	84153	RNASEH2C	ORPHA:51
HP:0007076	Extrapyramidal muscular rigidity	25939	SAMHD1	ORPHA:51
HP:0007076	Extrapyramidal muscular rigidity	79621	RNASEH2B	ORPHA:51
HP:0007076	Extrapyramidal muscular rigidity	103	ADAR	ORPHA:51
HP:0007076	Extrapyramidal muscular rigidity	11277	TREX1	ORPHA:51
HP:0007076	Extrapyramidal muscular rigidity	100147744	RNU7-1	ORPHA:51
HP:0007076	Extrapyramidal muscular rigidity	134353	LSM11	ORPHA:51
HP:0007076	Extrapyramidal muscular rigidity	64135	IFIH1	ORPHA:51
HP:0007076	Extrapyramidal muscular rigidity	80207	OPA3	ORPHA:67036
HP:0007076	Extrapyramidal muscular rigidity	10159	ATP6AP2	ORPHA:93952
HP:0007076	Extrapyramidal muscular rigidity	3119	HLA-DQB1	OMIM:123400
HP:0007076	Extrapyramidal muscular rigidity	5621	PRNP	OMIM:123400
HP:0007076	Extrapyramidal muscular rigidity	10367	MICU1	ORPHA:401768
HP:0007076	Extrapyramidal muscular rigidity	4137	MAPT	ORPHA:240112
HP:0007076	Extrapyramidal muscular rigidity	4137	MAPT	ORPHA:240103
HP:0007076	Extrapyramidal muscular rigidity	4137	MAPT	ORPHA:240071
HP:0007076	Extrapyramidal muscular rigidity	6872	TAF1	ORPHA:53351
HP:0009735	Spinal neurofibroma	4763	NF1	OMIM:162200
HP:0009735	Spinal neurofibroma	4763	NF1	OMIM:162210
HP:0009735	Spinal neurofibroma	4763	NF1	ORPHA:363700
HP:0007078	Decreased amplitude of sensory action potentials	10397	NDRG1	ORPHA:99950
HP:0007078	Decreased amplitude of sensory action potentials	7384	UQCRC1	OMIM:619279
HP:0007078	Decreased amplitude of sensory action potentials	2395	FXN	OMIM:229300
HP:0007078	Decreased amplitude of sensory action potentials	6652	SORD	OMIM:618912
HP:0007078	Decreased amplitude of sensory action potentials	22948	CCT5	OMIM:256840
HP:0007078	Decreased amplitude of sensory action potentials	22880	MORC2	OMIM:616688
HP:0007078	Decreased amplitude of sensory action potentials	23230	VPS13A	ORPHA:2388
HP:0007078	Decreased amplitude of sensory action potentials	8449	DHX16	OMIM:618733
HP:0007078	Decreased amplitude of sensory action potentials	81790	RNF170	OMIM:608984
HP:0007078	Decreased amplitude of sensory action potentials	4000	LMNA	ORPHA:98856
HP:0007078	Decreased amplitude of sensory action potentials	6310	ATXN1	OMIM:164400
HP:0007078	Decreased amplitude of sensory action potentials	26353	HSPB8	OMIM:608673
HP:0007078	Decreased amplitude of sensory action potentials	10558	SPTLC1	ORPHA:36386
HP:0007078	Decreased amplitude of sensory action potentials	25923	ATL3	ORPHA:36386
HP:0007078	Decreased amplitude of sensory action potentials	9517	SPTLC2	ORPHA:36386
HP:0007078	Decreased amplitude of sensory action potentials	51062	ATL1	ORPHA:36386
HP:0007078	Decreased amplitude of sensory action potentials	59341	TRPV4	OMIM:606071
HP:0007078	Decreased amplitude of sensory action potentials	54332	GDAP1	OMIM:607706
HP:0007078	Decreased amplitude of sensory action potentials	5981	RFC1	OMIM:614575
HP:0007078	Decreased amplitude of sensory action potentials	81846	SBF2	ORPHA:99956
HP:0007078	Decreased amplitude of sensory action potentials	4747	NEFL	OMIM:607684
HP:0007078	Decreased amplitude of sensory action potentials	4358	MPV17	OMIM:618400
HP:0007078	Decreased amplitude of sensory action potentials	9516	LITAF	OMIM:601098
HP:0007078	Decreased amplitude of sensory action potentials	3098	HK1	ORPHA:99953
HP:0003560	Muscular dystrophy	57190	SELENON	ORPHA:324604
HP:0003560	Muscular dystrophy	57190	SELENON	OMIM:602771
HP:0003560	Muscular dystrophy	4625	MYH7	ORPHA:324604
HP:0003560	Muscular dystrophy	7273	TTN	ORPHA:324604
HP:0003560	Muscular dystrophy	7273	TTN	OMIM:608807
HP:0003560	Muscular dystrophy	7273	TTN	OMIM:600334
HP:0003560	Muscular dystrophy	2218	FKTN	ORPHA:272
HP:0003560	Muscular dystrophy	2218	FKTN	OMIM:236670
HP:0003560	Muscular dystrophy	2218	FKTN	ORPHA:899
HP:0003560	Muscular dystrophy	2218	FKTN	OMIM:611588
HP:0003560	Muscular dystrophy	2218	FKTN	ORPHA:370980
HP:0003560	Muscular dystrophy	2218	FKTN	OMIM:253800
HP:0003560	Muscular dystrophy	2218	FKTN	OMIM:613152
HP:0003560	Muscular dystrophy	1410	CRYAB	OMIM:608810
HP:0003560	Muscular dystrophy	1410	CRYAB	OMIM:613869
HP:0003560	Muscular dystrophy	29925	GMPPB	OMIM:615350
HP:0003560	Muscular dystrophy	29925	GMPPB	OMIM:615351
HP:0003560	Muscular dystrophy	29925	GMPPB	OMIM:615352
HP:0003560	Muscular dystrophy	29925	GMPPB	ORPHA:370959
HP:0003560	Muscular dystrophy	1291	COL6A1	OMIM:254090
HP:0003560	Muscular dystrophy	1291	COL6A1	ORPHA:610
HP:0003560	Muscular dystrophy	4000	LMNA	ORPHA:300751
HP:0003560	Muscular dystrophy	4000	LMNA	OMIM:151660
HP:0003560	Muscular dystrophy	4000	LMNA	OMIM:616516
HP:0003560	Muscular dystrophy	4000	LMNA	OMIM:613205
HP:0003560	Muscular dystrophy	5339	PLEC	ORPHA:158684
HP:0003560	Muscular dystrophy	5339	PLEC	OMIM:226670
HP:0003560	Muscular dystrophy	5339	PLEC	OMIM:613723
HP:0003560	Muscular dystrophy	3691	ITGB4	ORPHA:158684
HP:0003560	Muscular dystrophy	79188	TMEM43	OMIM:614302
HP:0003560	Muscular dystrophy	8291	DYSF	OMIM:254130
HP:0003560	Muscular dystrophy	8291	DYSF	OMIM:253601
HP:0003560	Muscular dystrophy	1756	DMD	OMIM:310200
HP:0003560	Muscular dystrophy	1756	DMD	OMIM:300376
HP:0003560	Muscular dystrophy	11284	PNKP	ORPHA:459033
HP:0003560	Muscular dystrophy	55624	POMGNT1	OMIM:253280
HP:0003560	Muscular dystrophy	55624	POMGNT1	ORPHA:899
HP:0003560	Muscular dystrophy	55624	POMGNT1	ORPHA:370959
HP:0003560	Muscular dystrophy	55624	POMGNT1	OMIM:613151
HP:0003560	Muscular dystrophy	55624	POMGNT1	OMIM:613157
HP:0003560	Muscular dystrophy	825	CAPN3	OMIM:253600
HP:0003560	Muscular dystrophy	825	CAPN3	ORPHA:267
HP:0003560	Muscular dystrophy	10049	DNAJB6	OMIM:603511
HP:0003560	Muscular dystrophy	1120	CHKB	OMIM:602541
HP:0003560	Muscular dystrophy	3714	JAG2	OMIM:619566
HP:0003560	Muscular dystrophy	84892	POMGNT2	OMIM:614830
HP:0003560	Muscular dystrophy	84892	POMGNT2	ORPHA:899
HP:0003560	Muscular dystrophy	84197	POMK	OMIM:615249
HP:0003560	Muscular dystrophy	84197	POMK	ORPHA:899
HP:0003560	Muscular dystrophy	84197	POMK	ORPHA:370959
HP:0003560	Muscular dystrophy	84197	POMK	OMIM:616094
HP:0003560	Muscular dystrophy	6443	SGCB	OMIM:604286
HP:0003560	Muscular dystrophy	3908	LAMA2	ORPHA:258
HP:0003560	Muscular dystrophy	3908	LAMA2	OMIM:607855
HP:0003560	Muscular dystrophy	2710	GK	OMIM:307030
HP:0003560	Muscular dystrophy	29954	POMT2	OMIM:236670
HP:0003560	Muscular dystrophy	29954	POMT2	ORPHA:899
HP:0003560	Muscular dystrophy	29954	POMT2	ORPHA:370959
HP:0003560	Muscular dystrophy	29954	POMT2	OMIM:613150
HP:0003560	Muscular dystrophy	29954	POMT2	OMIM:613156
HP:0003560	Muscular dystrophy	29954	POMT2	OMIM:613158
HP:0003560	Muscular dystrophy	79147	FKRP	OMIM:236670
HP:0003560	Muscular dystrophy	79147	FKRP	ORPHA:899
HP:0003560	Muscular dystrophy	79147	FKRP	OMIM:607155
HP:0003560	Muscular dystrophy	79147	FKRP	OMIM:606612
HP:0003560	Muscular dystrophy	79147	FKRP	ORPHA:34515
HP:0003560	Muscular dystrophy	79147	FKRP	ORPHA:370980
HP:0003560	Muscular dystrophy	79147	FKRP	ORPHA:370959
HP:0003560	Muscular dystrophy	79147	FKRP	OMIM:613153
HP:0003560	Muscular dystrophy	10585	POMT1	OMIM:236670
HP:0003560	Muscular dystrophy	10585	POMT1	ORPHA:899
HP:0003560	Muscular dystrophy	10585	POMT1	ORPHA:370980
HP:0003560	Muscular dystrophy	10585	POMT1	OMIM:609308
HP:0003560	Muscular dystrophy	10585	POMT1	ORPHA:370959
HP:0003560	Muscular dystrophy	10585	POMT1	ORPHA:86812
HP:0003560	Muscular dystrophy	10585	POMT1	OMIM:613155
HP:0003560	Muscular dystrophy	9215	LARGE1	OMIM:236670
HP:0003560	Muscular dystrophy	9215	LARGE1	ORPHA:899
HP:0003560	Muscular dystrophy	9215	LARGE1	OMIM:608840
HP:0003560	Muscular dystrophy	9215	LARGE1	OMIM:613154
HP:0003560	Muscular dystrophy	148789	B3GALNT2	ORPHA:899
HP:0003560	Muscular dystrophy	148789	B3GALNT2	OMIM:615181
HP:0003560	Muscular dystrophy	1282	COL4A1	ORPHA:899
HP:0003560	Muscular dystrophy	729920	CRPPA	ORPHA:899
HP:0003560	Muscular dystrophy	729920	CRPPA	ORPHA:370980
HP:0003560	Muscular dystrophy	729920	CRPPA	OMIM:614643
HP:0003560	Muscular dystrophy	10329	RXYLT1	ORPHA:899
HP:0003560	Muscular dystrophy	1605	DAG1	ORPHA:899
HP:0003560	Muscular dystrophy	1605	DAG1	OMIM:613818
HP:0003560	Muscular dystrophy	1605	DAG1	OMIM:616538
HP:0003560	Muscular dystrophy	11041	B4GAT1	ORPHA:899
HP:0003560	Muscular dystrophy	11041	B4GAT1	OMIM:615287
HP:0003560	Muscular dystrophy	6444	SGCD	OMIM:601287
HP:0003560	Muscular dystrophy	729359	PLIN4	OMIM:601846
HP:0003560	Muscular dystrophy	6261	RYR1	OMIM:255320
HP:0003560	Muscular dystrophy	6261	RYR1	ORPHA:98905
HP:0003560	Muscular dystrophy	22954	TRIM32	OMIM:254110
HP:0003560	Muscular dystrophy	6331	SCN5A	ORPHA:1344
HP:0003560	Muscular dystrophy	4878	NPPA	ORPHA:1344
HP:0003560	Muscular dystrophy	6445	SGCG	OMIM:253700
HP:0003560	Muscular dystrophy	191	AHCY	ORPHA:88618
HP:0003560	Muscular dystrophy	9184	BUB3	ORPHA:1052
HP:0003560	Muscular dystrophy	699	BUB1	ORPHA:1052
HP:0003560	Muscular dystrophy	9702	CEP57	ORPHA:1052
HP:0003560	Muscular dystrophy	9319	TRIP13	ORPHA:1052
HP:0003560	Muscular dystrophy	701	BUB1B	ORPHA:1052
HP:0003560	Muscular dystrophy	1303	COL12A1	OMIM:616470
HP:0003560	Muscular dystrophy	1303	COL12A1	ORPHA:610
HP:0003560	Muscular dystrophy	8557	TCAP	OMIM:601954
HP:0003560	Muscular dystrophy	10282	BET1	OMIM:254100
HP:0003560	Muscular dystrophy	3178	HNRNPA1	OMIM:610099
HP:0003560	Muscular dystrophy	3178	HNRNPA1	OMIM:615426
HP:0003560	Muscular dystrophy	64374	SIL1	ORPHA:559
HP:0003560	Muscular dystrophy	9531	BAG3	OMIM:612954
HP:0003560	Muscular dystrophy	6442	SGCA	ORPHA:62
HP:0003560	Muscular dystrophy	190	NR0B1	OMIM:300200
HP:0003560	Muscular dystrophy	9325	TRIP4	OMIM:617066
HP:0003560	Muscular dystrophy	11149	POPDC1	OMIM:616812
HP:0003560	Muscular dystrophy	1292	COL6A2	ORPHA:610
HP:0003560	Muscular dystrophy	1293	COL6A3	ORPHA:610
HP:0003560	Muscular dystrophy	26092	TOR1AIP1	OMIM:617072
HP:0003560	Muscular dystrophy	8813	DPM1	OMIM:608799
HP:0003560	Muscular dystrophy	8813	DPM1	ORPHA:79322
HP:0003560	Muscular dystrophy	859	CAV3	OMIM:123320
HP:0003560	Muscular dystrophy	55679	LIMS2	OMIM:616827
HP:0003560	Muscular dystrophy	203859	ANO5	OMIM:613319
HP:0003560	Muscular dystrophy	203859	ANO5	OMIM:611307
HP:0003560	Muscular dystrophy	60684	TRAPPC11	ORPHA:369840
HP:0003560	Muscular dystrophy	3991	LIPE	OMIM:615980
HP:0003560	Muscular dystrophy	54344	DPM3	ORPHA:263494
HP:0003560	Muscular dystrophy	3679	ITGA7	OMIM:613204
HP:0003560	Muscular dystrophy	284119	CAVIN1	OMIM:613327
HP:0003560	Muscular dystrophy	63895	PIEZO2	ORPHA:2461
HP:0003560	Muscular dystrophy	23224	SYNE2	OMIM:612999
HP:0003560	Muscular dystrophy	23534	TNPO3	OMIM:608423
HP:0003560	Muscular dystrophy	23345	SYNE1	OMIM:612998
HP:0003560	Muscular dystrophy	58	ACTA1	ORPHA:97240
HP:0003560	Muscular dystrophy	56983	POGLUT1	OMIM:617232
HP:0003560	Muscular dystrophy	9987	HNRNPDL	OMIM:609115
HP:0003560	Muscular dystrophy	2273	FHL1	ORPHA:98863
HP:0003560	Muscular dystrophy	2010	EMD	ORPHA:98863
HP:0003560	Muscular dystrophy	2483	FRG1	OMIM:158900
HP:0003560	Muscular dystrophy	23347	SMCHD1	OMIM:158901
HP:0007082	Dilated third ventricle	79848	CSPP1	ORPHA:397715
HP:0007082	Dilated third ventricle	9786	KIAA0586	ORPHA:397715
HP:0007082	Dilated third ventricle	57551	TAOK1	OMIM:619575
HP:0007082	Dilated third ventricle	7874	USP7	ORPHA:500055
HP:0007082	Dilated third ventricle	57498	KIDINS220	OMIM:617296
HP:0007082	Dilated third ventricle	10159	ATP6AP2	ORPHA:363654
HP:0007082	Dilated third ventricle	440	ASNS	OMIM:615574
HP:0007082	Dilated third ventricle	9215	LARGE1	OMIM:613154
HP:0007082	Dilated third ventricle	91875	TTC5	OMIM:619244
HP:0007082	Dilated third ventricle	26005	C2CD3	ORPHA:434179
HP:0007082	Dilated third ventricle	4953	ODC1	ORPHA:544488
HP:0007082	Dilated third ventricle	81857	MED25	ORPHA:464738
HP:0007082	Dilated third ventricle	8893	EIF2B5	OMIM:620315
HP:0007082	Dilated third ventricle	3781	KCNN2	OMIM:619725
HP:0007082	Dilated third ventricle	1786	DNMT1	ORPHA:314404
HP:0007082	Dilated third ventricle	90952	ESAM	OMIM:620371
HP:0007083	Hyperactive patellar reflex	10908	PNPLA6	OMIM:215470
HP:0007083	Hyperactive patellar reflex	10280	SIGMAR1	OMIM:605726
HP:0007083	Hyperactive patellar reflex	200205	IBA57	ORPHA:468661
HP:0007083	Hyperactive patellar reflex	4841	NONO	ORPHA:466791
HP:0007083	Hyperactive patellar reflex	1327	COX4I1	OMIM:619060
HP:0007083	Hyperactive patellar reflex	3074	HEXB	ORPHA:309155
HP:0007083	Hyperactive patellar reflex	23400	ATP13A2	ORPHA:306674
HP:0007083	Hyperactive patellar reflex	6709	SPTAN1	OMIM:620528
HP:0007083	Hyperactive patellar reflex	55149	MTPAP	OMIM:613672
HP:0007083	Hyperactive patellar reflex	23204	ARL6IP1	OMIM:615685
HP:0007083	Hyperactive patellar reflex	23204	ARL6IP1	ORPHA:401780
HP:0007083	Hyperactive patellar reflex	6389	SDHA	ORPHA:3208
HP:0007083	Hyperactive patellar reflex	6390	SDHB	ORPHA:3208
HP:0007083	Hyperactive patellar reflex	6392	SDHD	ORPHA:3208
HP:0007083	Hyperactive patellar reflex	644096	SDHAF1	ORPHA:3208
HP:0007083	Hyperactive patellar reflex	5238	PGM3	ORPHA:443811
HP:0007083	Hyperactive patellar reflex	3035	HARS1	OMIM:614504
HP:0007083	Hyperactive patellar reflex	3035	HARS1	OMIM:616625
HP:0007083	Hyperactive patellar reflex	5832	ALDH18A1	ORPHA:447757
HP:0007083	Hyperactive patellar reflex	55129	ANO10	OMIM:613728
HP:0007083	Hyperactive patellar reflex	26278	SACS	OMIM:270550
HP:0012380	Reduced tissue carnitine O-palmitoyltransferase 2 activity	1376	CPT2	ORPHA:228302
HP:0012380	Reduced tissue carnitine O-palmitoyltransferase 2 activity	1376	CPT2	ORPHA:228305
HP:0012380	Reduced tissue carnitine O-palmitoyltransferase 2 activity	1376	CPT2	ORPHA:228308
HP:0012382	Left-to-right shunt	7092	TLL1	ORPHA:99103
HP:0012382	Left-to-right shunt	57057	TBX20	ORPHA:99103
HP:0012382	Left-to-right shunt	4624	MYH6	ORPHA:99103
HP:0012382	Left-to-right shunt	1482	NKX2-5	ORPHA:99103
HP:0012382	Left-to-right shunt	70	ACTC1	ORPHA:99103
HP:0012382	Left-to-right shunt	10370	CITED2	ORPHA:99103
HP:0012382	Left-to-right shunt	10370	CITED2	ORPHA:99105
HP:0012382	Left-to-right shunt	2626	GATA4	ORPHA:99103
HP:0012382	Left-to-right shunt	2627	GATA6	ORPHA:99103
HP:0012382	Left-to-right shunt	79228	THOC6	ORPHA:363444
HP:0012382	Left-to-right shunt	51163	DBR1	OMIM:620510
HP:0012382	Left-to-right shunt	79989	IFT56	OMIM:619534
HP:0012383	Bidirectional shunt	79989	IFT56	OMIM:619534
HP:0012383	Bidirectional shunt	4629	MYH11	OMIM:619351
HP:0012384	Rhinitis	27019	DNAI1	OMIM:244400
HP:0012384	Rhinitis	27019	DNAI1	ORPHA:244
HP:0012384	Rhinitis	374407	DNAJB13	OMIM:617091
HP:0012384	Rhinitis	374407	DNAJB13	ORPHA:244
HP:0012384	Rhinitis	83538	ODAD4	OMIM:617092
HP:0012384	Rhinitis	83538	ODAD4	ORPHA:244
HP:0012384	Rhinitis	1770	DNAH9	OMIM:618300
HP:0012384	Rhinitis	1770	DNAH9	ORPHA:244
HP:0012384	Rhinitis	83861	RSPH3	OMIM:616481
HP:0012384	Rhinitis	83861	RSPH3	ORPHA:244
HP:0012384	Rhinitis	55130	ODAD2	OMIM:615451
HP:0012384	Rhinitis	55130	ODAD2	ORPHA:244
HP:0012384	Rhinitis	25981	DNAH1	OMIM:617577
HP:0012384	Rhinitis	25981	DNAH1	ORPHA:244
HP:0012384	Rhinitis	2622	GAS8	OMIM:616726
HP:0012384	Rhinitis	2622	GAS8	ORPHA:244
HP:0012384	Rhinitis	64446	DNAI2	OMIM:612444
HP:0012384	Rhinitis	64446	DNAI2	ORPHA:244
HP:0012384	Rhinitis	54970	TTC12	OMIM:618801
HP:0012384	Rhinitis	54970	TTC12	ORPHA:244
HP:0012384	Rhinitis	54440	SASH3	OMIM:301082
HP:0012384	Rhinitis	345895	RSPH4A	OMIM:612649
HP:0012384	Rhinitis	345895	RSPH4A	ORPHA:244
HP:0012384	Rhinitis	79087	ALG12	ORPHA:79324
HP:0012384	Rhinitis	1186	CLCN7	ORPHA:667
HP:0012384	Rhinitis	29887	SNX10	ORPHA:667
HP:0012384	Rhinitis	8600	TNFSF11	ORPHA:667
HP:0012384	Rhinitis	115948	ODAD3	ORPHA:244
HP:0012384	Rhinitis	54768	HYDIN	ORPHA:244
HP:0012384	Rhinitis	54768	HYDIN	OMIM:608647
HP:0012384	Rhinitis	352909	DNAAF3	ORPHA:244
HP:0012384	Rhinitis	27148	STK36	ORPHA:244
HP:0012384	Rhinitis	51314	NME8	ORPHA:244
HP:0012384	Rhinitis	92749	DRC1	ORPHA:244
HP:0012384	Rhinitis	152110	NEK10	ORPHA:244
HP:0012384	Rhinitis	8481	OFD1	ORPHA:244
HP:0012384	Rhinitis	2302	FOXJ1	ORPHA:244
HP:0012384	Rhinitis	2302	FOXJ1	OMIM:618699
HP:0012384	Rhinitis	221421	RSPH9	ORPHA:244
HP:0012384	Rhinitis	221421	RSPH9	OMIM:612650
HP:0012384	Rhinitis	55036	CCDC40	ORPHA:244
HP:0012384	Rhinitis	8382	NME5	ORPHA:244
HP:0012384	Rhinitis	83544	DNAL1	ORPHA:244
HP:0012384	Rhinitis	83544	DNAL1	OMIM:614017
HP:0012384	Rhinitis	89765	RSPH1	ORPHA:244
HP:0012384	Rhinitis	89765	RSPH1	OMIM:615481
HP:0012384	Rhinitis	200373	CFAP221	ORPHA:244
HP:0012384	Rhinitis	55172	DNAAF2	ORPHA:244
HP:0012384	Rhinitis	161582	DNAAF4	ORPHA:244
HP:0012384	Rhinitis	161582	DNAAF4	OMIM:615482
HP:0012384	Rhinitis	6103	RPGR	ORPHA:244
HP:0012384	Rhinitis	85452	CFAP74	ORPHA:244
HP:0012384	Rhinitis	93233	ODAD1	ORPHA:244
HP:0012384	Rhinitis	1767	DNAH5	ORPHA:244
HP:0012384	Rhinitis	345643	MCIDAS	ORPHA:244
HP:0012384	Rhinitis	345643	MCIDAS	OMIM:618695
HP:0012384	Rhinitis	79925	SPEF2	ORPHA:244
HP:0012384	Rhinitis	10309	CCNO	ORPHA:244
HP:0012384	Rhinitis	115399	LRRC56	ORPHA:244
HP:0012384	Rhinitis	139212	DNAAF6	ORPHA:244
HP:0012384	Rhinitis	123872	DNAAF1	ORPHA:244
HP:0012384	Rhinitis	339829	CCDC39	ORPHA:244
HP:0012384	Rhinitis	8701	DNAH11	ORPHA:244
HP:0012384	Rhinitis	8701	DNAH11	OMIM:611884
HP:0012384	Rhinitis	246176	GAS2L2	ORPHA:244
HP:0012384	Rhinitis	22861	NLRP1	OMIM:615225
HP:0012384	Rhinitis	11005	SPINK5	OMIM:256500
HP:0012384	Rhinitis	54014	BRWD1	OMIM:620438
HP:0012384	Rhinitis	6891	TAP2	OMIM:620813
HP:0012384	Rhinitis	55315	SLC29A3	ORPHA:168569
HP:0012384	Rhinitis	388389	DNAAF19	OMIM:614679
HP:0012384	Rhinitis	10999	SLC27A4	OMIM:608649
HP:0012384	Rhinitis	1369	CPN1	OMIM:212070
HP:0012384	Rhinitis	23387	SIK3	OMIM:618162
HP:0012384	Rhinitis	81704	DOCK8	OMIM:243700
HP:0012384	Rhinitis	146206	CARMIL2	OMIM:618131
HP:0012384	Rhinitis	1041	CDSN	ORPHA:90368
HP:0012384	Rhinitis	121391	KRT74	ORPHA:90368
HP:0012384	Rhinitis	5238	PGM3	ORPHA:443811
HP:0012384	Rhinitis	5238	PGM3	OMIM:615816
HP:0012384	Rhinitis	5336	PLCG2	OMIM:614468
HP:0012384	Rhinitis	84701	COX4I2	OMIM:612714
HP:0012384	Rhinitis	3514	IGKC	ORPHA:183675
HP:0012384	Rhinitis	3501	IGHG2	ORPHA:183675
HP:0012384	Rhinitis	85016	CFAP300	OMIM:618063
HP:0012384	Rhinitis	92482	BBIP1	ORPHA:110
HP:0012384	Rhinitis	80184	CEP290	ORPHA:110
HP:0012384	Rhinitis	11020	IFT27	ORPHA:110
HP:0012384	Rhinitis	582	BBS1	ORPHA:110
HP:0012384	Rhinitis	49855	SCAPER	ORPHA:110
HP:0012384	Rhinitis	4867	NPHP1	ORPHA:110
HP:0012384	Rhinitis	51057	WDPCP	ORPHA:110
HP:0012384	Rhinitis	132320	SCLT1	ORPHA:110
HP:0012384	Rhinitis	27241	BBS9	ORPHA:110
HP:0012384	Rhinitis	84984	CEP19	ORPHA:110
HP:0012384	Rhinitis	22954	TRIM32	ORPHA:110
HP:0012384	Rhinitis	54903	MKS1	ORPHA:110
HP:0012384	Rhinitis	79738	BBS10	ORPHA:110
HP:0012384	Rhinitis	123016	TTC8	ORPHA:110
HP:0012384	Rhinitis	26160	IFT172	ORPHA:110
HP:0012384	Rhinitis	583	BBS2	ORPHA:110
HP:0012384	Rhinitis	585	BBS4	ORPHA:110
HP:0012384	Rhinitis	8195	MKKS	ORPHA:110
HP:0012384	Rhinitis	54585	LZTFL1	ORPHA:110
HP:0012384	Rhinitis	55212	BBS7	ORPHA:110
HP:0012384	Rhinitis	166379	BBS12	ORPHA:110
HP:0012384	Rhinitis	10806	SDCCAG8	ORPHA:110
HP:0012384	Rhinitis	157657	CFAP418	ORPHA:110
HP:0012384	Rhinitis	84100	ARL6	ORPHA:110
HP:0012384	Rhinitis	129880	BBS5	ORPHA:110
HP:0012384	Rhinitis	80173	IFT74	ORPHA:110
HP:0012384	Rhinitis	5994	RFXAP	ORPHA:572
HP:0012384	Rhinitis	4261	CIITA	ORPHA:572
HP:0012384	Rhinitis	5993	RFX5	ORPHA:572
HP:0012384	Rhinitis	8625	RFXANK	ORPHA:572
HP:0012384	Rhinitis	1896	EDA	OMIM:305100
HP:0012384	Rhinitis	1621	DBH	ORPHA:230
HP:0012384	Rhinitis	128178	EDARADD	OMIM:614941
HP:0012384	Rhinitis	3425	IDUA	ORPHA:93474
HP:0012384	Rhinitis	3425	IDUA	ORPHA:93473
HP:0012384	Rhinitis	3425	IDUA	ORPHA:93476
HP:0012384	Rhinitis	10312	TCIRG1	ORPHA:486
HP:0012384	Rhinitis	6728	SRP19	ORPHA:486
HP:0012384	Rhinitis	1991	ELANE	ORPHA:486
HP:0012384	Rhinitis	2672	GFI1	ORPHA:486
HP:0012384	Rhinitis	81570	CLPB	ORPHA:486
HP:0012384	Rhinitis	641	BLM	ORPHA:125
HP:0012384	Rhinitis	374879	ZNF699	OMIM:619488
HP:0012384	Rhinitis	56683	CFAP298	OMIM:615500
HP:0012384	Rhinitis	54919	DNAAF5	OMIM:614874
HP:0012384	Rhinitis	51364	ZMYND10	OMIM:615444
HP:0012384	Rhinitis	85478	CCDC65	OMIM:615504
HP:0012384	Rhinitis	6674	SPAG1	OMIM:615505
HP:0012384	Rhinitis	23639	DNAAF11	OMIM:614935
HP:0012384	Rhinitis	5896	RAG1	OMIM:601457
HP:0012384	Rhinitis	5897	RAG2	OMIM:601457
HP:0012385	Camptodactyly	64093	SMOC1	OMIM:206920
HP:0012385	Camptodactyly	64093	SMOC1	ORPHA:1106
HP:0012385	Camptodactyly	1832	DSP	ORPHA:158687
HP:0012385	Camptodactyly	3728	JUP	ORPHA:158687
HP:0012385	Camptodactyly	29895	MYL11	OMIM:619110
HP:0012385	Camptodactyly	2737	GLI3	OMIM:175700
HP:0012385	Camptodactyly	10216	PRG4	ORPHA:2848
HP:0012385	Camptodactyly	84295	PHF6	ORPHA:127
HP:0012385	Camptodactyly	4313	MMP2	OMIM:259600
HP:0012385	Camptodactyly	55628	ZNF407	OMIM:619557
HP:0012385	Camptodactyly	23219	FBXO28	OMIM:619777
HP:0012385	Camptodactyly	84265	POLR3GL	OMIM:619234
HP:0012385	Camptodactyly	10297	APC2	ORPHA:821
HP:0012385	Camptodactyly	80204	FBXO11	OMIM:618089
HP:0012385	Camptodactyly	825	CAPN3	ORPHA:267
HP:0012385	Camptodactyly	113179	ADAT3	ORPHA:363528
HP:0012385	Camptodactyly	51305	KCNK9	ORPHA:166108
HP:0012385	Camptodactyly	22880	MORC2	ORPHA:466768
HP:0012385	Camptodactyly	170689	ADAMTS15	OMIM:620545
HP:0012385	Camptodactyly	6329	SCN4A	OMIM:620351
HP:0012385	Camptodactyly	10765	KDM5B	OMIM:618109
HP:0012385	Camptodactyly	10093	ARPC4	OMIM:620141
HP:0012385	Camptodactyly	11011	TLK2	OMIM:618050
HP:0012385	Camptodactyly	6909	TBX2	OMIM:618223
HP:0012385	Camptodactyly	90459	ERI1	OMIM:620662
HP:0012385	Camptodactyly	80816	ASXL3	OMIM:615485
HP:0012385	Camptodactyly	81857	MED25	ORPHA:464738
HP:0012385	Camptodactyly	1277	COL1A1	OMIM:130060
HP:0012385	Camptodactyly	23327	NEDD4L	OMIM:617201
HP:0012385	Camptodactyly	8985	PLOD3	OMIM:612394
HP:0012385	Camptodactyly	10262	SF3B4	OMIM:154400
HP:0012385	Camptodactyly	91754	NEK9	OMIM:614262
HP:0012385	Camptodactyly	775	CACNA1C	OMIM:620029
HP:0012385	Camptodactyly	3008	H1-4	OMIM:617537
HP:0012385	Camptodactyly	84942	WDR73	OMIM:251300
HP:0012385	Camptodactyly	5830	PEX5	OMIM:214110
HP:0012385	Camptodactyly	5447	POR	ORPHA:95699
HP:0012385	Camptodactyly	5447	POR	OMIM:201750
HP:0012385	Camptodactyly	5447	POR	OMIM:207410
HP:0012385	Camptodactyly	1836	SLC26A2	ORPHA:56304
HP:0012385	Camptodactyly	1855	DVL1	OMIM:616331
HP:0012385	Camptodactyly	4649	MYO9A	OMIM:618198
HP:0012385	Camptodactyly	2261	FGFR3	OMIM:610474
HP:0012385	Camptodactyly	2201	FBN2	OMIM:121050
HP:0012385	Camptodactyly	4000	LMNA	OMIM:248370
HP:0012385	Camptodactyly	79158	GNPTAB	OMIM:252500
HP:0012385	Camptodactyly	9382	COG1	OMIM:611209
HP:0012385	Camptodactyly	57231	SNX14	ORPHA:397709
HP:0012385	Camptodactyly	57231	SNX14	OMIM:616354
HP:0012385	Camptodactyly	7125	TNNC2	OMIM:620161
HP:0012385	Camptodactyly	1146	CHRNG	OMIM:265000
HP:0012385	Camptodactyly	56992	KIF15	ORPHA:261323
HP:0012385	Camptodactyly	57589	RIC1	OMIM:618761
HP:0012385	Camptodactyly	1272	CNTN1	OMIM:612540
HP:0012385	Camptodactyly	64359	NXN	OMIM:618529
HP:0012385	Camptodactyly	259232	NALCN	ORPHA:562528
HP:0012385	Camptodactyly	259232	NALCN	OMIM:616266
HP:0012385	Camptodactyly	9839	ZEB2	ORPHA:261552
HP:0012385	Camptodactyly	9839	ZEB2	ORPHA:261537
HP:0012385	Camptodactyly	8726	EED	OMIM:617561
HP:0012385	Camptodactyly	1301	COL11A1	OMIM:228520
HP:0012385	Camptodactyly	80776	B9D2	OMIM:614175
HP:0012385	Camptodactyly	1954	MEGF8	OMIM:614976
HP:0012385	Camptodactyly	23314	SATB2	OMIM:612313
HP:0012385	Camptodactyly	2752	GLUL	OMIM:610015
HP:0012385	Camptodactyly	8642	DCHS1	OMIM:601390
HP:0012385	Camptodactyly	8642	DCHS1	ORPHA:314679
HP:0012385	Camptodactyly	79053	ALG8	OMIM:608104
HP:0012385	Camptodactyly	79053	ALG8	ORPHA:79325
HP:0012385	Camptodactyly	26227	PHGDH	OMIM:256520
HP:0012385	Camptodactyly	57167	SALL4	ORPHA:233
HP:0012385	Camptodactyly	9935	MAFB	ORPHA:233
HP:0012385	Camptodactyly	1123	CHN1	ORPHA:233
HP:0012385	Camptodactyly	2074	ERCC6	OMIM:214150
HP:0012385	Camptodactyly	1798	DPAGT1	ORPHA:86309
HP:0012385	Camptodactyly	3572	IL6ST	OMIM:619751
HP:0012385	Camptodactyly	54880	BCOR	OMIM:309800
HP:0012385	Camptodactyly	8260	NAA10	OMIM:309800
HP:0012385	Camptodactyly	23512	SUZ12	OMIM:618786
HP:0012385	Camptodactyly	7862	BRPF1	OMIM:617333
HP:0012385	Camptodactyly	1001	CDH3	OMIM:225280
HP:0012385	Camptodactyly	79633	FAT4	OMIM:616006
HP:0012385	Camptodactyly	79633	FAT4	ORPHA:314679
HP:0012385	Camptodactyly	5828	PEX2	OMIM:614866
HP:0012385	Camptodactyly	79228	THOC6	ORPHA:363444
HP:0012385	Camptodactyly	4094	MAF	ORPHA:1272
HP:0012385	Camptodactyly	4094	MAF	OMIM:601088
HP:0012385	Camptodactyly	4089	SMAD4	OMIM:139210
HP:0012385	Camptodactyly	8838	CCN6	ORPHA:1159
HP:0012385	Camptodactyly	163175	LGI4	OMIM:617468
HP:0012385	Camptodactyly	7140	TNNT3	OMIM:618435
HP:0012385	Camptodactyly	4621	MYH3	OMIM:618436
HP:0012385	Camptodactyly	4621	MYH3	OMIM:178110
HP:0012385	Camptodactyly	4621	MYH3	OMIM:193700
HP:0012385	Camptodactyly	9968	MED12	OMIM:305450
HP:0012385	Camptodactyly	388015	RTL1	ORPHA:96334
HP:0012385	Camptodactyly	388015	RTL1	ORPHA:254528
HP:0012385	Camptodactyly	8788	DLK1	ORPHA:96334
HP:0012385	Camptodactyly	8788	DLK1	ORPHA:254528
HP:0012385	Camptodactyly	55384	MEG3	ORPHA:96334
HP:0012385	Camptodactyly	55384	MEG3	ORPHA:254528
HP:0012385	Camptodactyly	3239	HOXD13	OMIM:610713
HP:0012385	Camptodactyly	11107	PRDM5	ORPHA:90354
HP:0012385	Camptodactyly	84627	ZNF469	ORPHA:90354
HP:0012385	Camptodactyly	8626	TP63	OMIM:603543
HP:0012385	Camptodactyly	4920	ROR2	OMIM:268310
HP:0012385	Camptodactyly	4920	ROR2	OMIM:113000
HP:0012385	Camptodactyly	63895	PIEZO2	OMIM:248700
HP:0012385	Camptodactyly	63895	PIEZO2	OMIM:617146
HP:0012385	Camptodactyly	8813	DPM1	OMIM:608799
HP:0012385	Camptodactyly	8813	DPM1	ORPHA:79322
HP:0012385	Camptodactyly	23483	TGDS	OMIM:616145
HP:0012385	Camptodactyly	4088	SMAD3	OMIM:613795
HP:0012385	Camptodactyly	25836	NIPBL	OMIM:122470
HP:0012385	Camptodactyly	4087	SMAD2	OMIM:619656
HP:0012385	Camptodactyly	2146	EZH2	OMIM:277590
HP:0012385	Camptodactyly	7048	TGFBR2	OMIM:610168
HP:0012385	Camptodactyly	4733	DRG1	OMIM:620641
HP:0012385	Camptodactyly	147372	CCBE1	OMIM:235510
HP:0012385	Camptodactyly	79087	ALG12	ORPHA:79324
HP:0012385	Camptodactyly	2200	FBN1	OMIM:184900
HP:0012385	Camptodactyly	2200	FBN1	OMIM:154700
HP:0012385	Camptodactyly	257	ALX3	OMIM:136760
HP:0012385	Camptodactyly	7546	ZIC2	OMIM:609637
HP:0012385	Camptodactyly	171023	ASXL1	OMIM:605039
HP:0012385	Camptodactyly	26100	WIPI2	OMIM:618453
HP:0012385	Camptodactyly	8621	CDK13	OMIM:617360
HP:0012385	Camptodactyly	9427	ECEL1	OMIM:615065
HP:0012385	Camptodactyly	22930	RAB3GAP1	OMIM:619420
HP:0012385	Camptodactyly	2703	GJA8	OMIM:612474
HP:0012385	Camptodactyly	2702	GJA5	OMIM:612474
HP:0012385	Camptodactyly	7046	TGFBR1	OMIM:609192
HP:0012385	Camptodactyly	10664	CTCF	OMIM:615502
HP:0012385	Camptodactyly	27145	FILIP1	OMIM:620775
HP:0012385	Camptodactyly	1801	DPH1	ORPHA:459061
HP:0012385	Camptodactyly	1802	DPH2	ORPHA:459061
HP:0012385	Camptodactyly	10075	HUWE1	OMIM:309590
HP:0012385	Camptodactyly	2260	FGFR1	ORPHA:432
HP:0012385	Camptodactyly	81848	SPRY4	ORPHA:432
HP:0012385	Camptodactyly	128674	PROKR2	ORPHA:432
HP:0012385	Camptodactyly	2253	FGF8	ORPHA:432
HP:0012385	Camptodactyly	60675	PROK2	ORPHA:432
HP:0012385	Camptodactyly	55636	CHD7	ORPHA:432
HP:0012385	Camptodactyly	6870	TACR3	ORPHA:432
HP:0012385	Camptodactyly	1848	DUSP6	ORPHA:432
HP:0012385	Camptodactyly	26012	NSMF	ORPHA:432
HP:0012385	Camptodactyly	55717	WDR11	ORPHA:432
HP:0012385	Camptodactyly	4808	NHLH2	ORPHA:432
HP:0012385	Camptodactyly	9394	HS6ST1	ORPHA:432
HP:0012385	Camptodactyly	2796	GNRH1	ORPHA:432
HP:0012385	Camptodactyly	2798	GNRHR	ORPHA:432
HP:0012385	Camptodactyly	84634	KISS1R	ORPHA:432
HP:0012385	Camptodactyly	6866	TAC3	ORPHA:432
HP:0012385	Camptodactyly	8822	FGF17	ORPHA:432
HP:0012385	Camptodactyly	3814	KISS1	ORPHA:432
HP:0012385	Camptodactyly	23111	SPART	OMIM:275900
HP:0012385	Camptodactyly	2245	FGD1	OMIM:305400
HP:0012385	Camptodactyly	8243	SMC1A	OMIM:301044
HP:0012385	Camptodactyly	1281	COL3A1	OMIM:618343
HP:0012385	Camptodactyly	9158	FIBP	ORPHA:500095
HP:0012385	Camptodactyly	6885	MAP3K7	OMIM:617137
HP:0012385	Camptodactyly	55315	SLC29A3	OMIM:602782
HP:0012385	Camptodactyly	55315	SLC29A3	ORPHA:168569
HP:0012385	Camptodactyly	91179	SCARF2	OMIM:600920
HP:0012385	Camptodactyly	117581	TWIST2	OMIM:200110
HP:0012385	Camptodactyly	84162	BLTP1	OMIM:617822
HP:0012385	Camptodactyly	2263	FGFR2	OMIM:207410
HP:0012385	Camptodactyly	998	CDC42	OMIM:616737
HP:0012385	Camptodactyly	998	CDC42	ORPHA:487796
HP:0012385	Camptodactyly	54808	DYM	OMIM:223800
HP:0012385	Camptodactyly	2239	GPC4	OMIM:301026
HP:0012385	Camptodactyly	28982	FLVCR1	ORPHA:88628
HP:0012385	Camptodactyly	28982	FLVCR1	OMIM:609033
HP:0012385	Camptodactyly	56915	EXOSC5	OMIM:619576
HP:0012385	Camptodactyly	55906	ZC4H2	OMIM:314580
HP:0012385	Camptodactyly	4998	ORC1	OMIM:224690
HP:0012385	Camptodactyly	92255	LMBRD2	OMIM:619694
HP:0012385	Camptodactyly	2316	FLNA	ORPHA:88630
HP:0012385	Camptodactyly	23511	NUP188	OMIM:618804
HP:0012385	Camptodactyly	92344	GORAB	OMIM:231070
HP:0012385	Camptodactyly	29940	DSE	OMIM:615539
HP:0012385	Camptodactyly	23389	MED13L	ORPHA:369891
HP:0012385	Camptodactyly	91647	ATPAF2	OMIM:604273
HP:0012385	Camptodactyly	727857	BHLHA9	OMIM:607539
HP:0012385	Camptodactyly	10943	MSL3	OMIM:301032
HP:0012385	Camptodactyly	633	BGN	OMIM:300989
HP:0012385	Camptodactyly	3977	LIFR	OMIM:601559
HP:0012385	Camptodactyly	84342	COG8	OMIM:611182
HP:0012385	Camptodactyly	79576	NKAP	OMIM:301039
HP:0012385	Camptodactyly	5277	PIGA	OMIM:300868
HP:0012385	Camptodactyly	84896	ATAD1	OMIM:618011
HP:0012385	Camptodactyly	25	ABL1	OMIM:617602
HP:0012385	Camptodactyly	4604	MYBPC1	OMIM:614335
HP:0012385	Camptodactyly	5000	ORC4	OMIM:613800
HP:0012385	Camptodactyly	3930	LBR	OMIM:618019
HP:0012385	Camptodactyly	54551	MAGEL2	OMIM:615547
HP:0012385	Camptodactyly	9244	CRLF1	OMIM:272430
HP:0012385	Camptodactyly	55644	OSGEP	OMIM:617729
HP:0012385	Camptodactyly	26040	SETBP1	ORPHA:798
HP:0012385	Camptodactyly	6611	SMS	ORPHA:3063
HP:0012385	Camptodactyly	55975	KLHL7	OMIM:617055
HP:0012385	Camptodactyly	1861	TOR1A	OMIM:618947
HP:0012385	Camptodactyly	246329	STAC3	ORPHA:168572
HP:0012385	Camptodactyly	4927	NUP88	OMIM:618393
HP:0012385	Camptodactyly	6134	RPL10	ORPHA:435938
HP:0012385	Camptodactyly	285590	SH3PXD2B	OMIM:249420
HP:0012385	Camptodactyly	51715	RAB23	OMIM:201000
HP:0012385	Camptodactyly	1857	DVL3	OMIM:616894
HP:0012385	Camptodactyly	83737	ITCH	OMIM:613385
HP:0012385	Camptodactyly	83737	ITCH	ORPHA:228426
HP:0012385	Camptodactyly	28952	CCDC22	OMIM:300963
HP:0012385	Camptodactyly	90416	CCDC32	OMIM:619123
HP:0012385	Camptodactyly	2273	FHL1	OMIM:300280
HP:0012385	Camptodactyly	7169	TPM2	OMIM:108120
HP:0012385	Camptodactyly	139285	AMER1	OMIM:300373
HP:0012385	Camptodactyly	6497	SKI	OMIM:182212
HP:0012385	Camptodactyly	342035	GLDN	OMIM:617194
HP:0012385	Camptodactyly	10084	PQBP1	OMIM:309500
HP:0012385	Camptodactyly	9487	PIGL	OMIM:280000
HP:0012385	Camptodactyly	3868	KRT16	ORPHA:2199
HP:0012385	Camptodactyly	3857	KRT9	ORPHA:2199
HP:0012385	Camptodactyly	3848	KRT1	ORPHA:2199
HP:0012385	Camptodactyly	6913	TBX15	OMIM:260660
HP:0012385	Camptodactyly	2036	EPB41L1	OMIM:614257
HP:0012385	Camptodactyly	523	ATP6V1A	OMIM:617403
HP:0012385	Camptodactyly	529	ATP6V1E1	OMIM:617402
HP:0012385	Camptodactyly	4233	MET	OMIM:620019
HP:0012385	Camptodactyly	170302	ARX	OMIM:309510
HP:0012385	Camptodactyly	26123	TCTN3	OMIM:614815
HP:0012385	Camptodactyly	5528	PPP2R5D	ORPHA:457279
HP:0012385	Camptodactyly	2218	FKTN	ORPHA:272
HP:0012385	Camptodactyly	8294	H4C9	OMIM:619951
HP:0012385	Camptodactyly	3094	HINT1	ORPHA:324442
HP:0012385	Camptodactyly	1947	EFNB1	ORPHA:1520
HP:0012385	Camptodactyly	7355	SLC35A2	ORPHA:356961
HP:0012385	Camptodactyly	118429	ANTXR2	ORPHA:2176
HP:0012385	Camptodactyly	5077	PAX3	ORPHA:1529
HP:0012385	Camptodactyly	5077	PAX3	ORPHA:896
HP:0012385	Camptodactyly	5077	PAX3	OMIM:148820
HP:0012385	Camptodactyly	9241	NOG	ORPHA:3250
HP:0012385	Camptodactyly	8200	GDF5	ORPHA:3250
HP:0012385	Camptodactyly	54968	TMEM70	ORPHA:1194
HP:0012385	Camptodactyly	613	BCR	ORPHA:261330
HP:0012385	Camptodactyly	1399	CRKL	ORPHA:261330
HP:0012385	Camptodactyly	5594	MAPK1	ORPHA:261330
HP:0012385	Camptodactyly	84466	MEGF10	OMIM:614399
HP:0012385	Camptodactyly	72	ACTG2	ORPHA:2604
HP:0012385	Camptodactyly	3508	IGHMBP2	OMIM:604320
HP:0012385	Camptodactyly	6926	TBX3	ORPHA:3138
HP:0012385	Camptodactyly	51360	MBTPS2	ORPHA:2273
HP:0012385	Camptodactyly	10381	TUBB3	OMIM:600638
HP:0012385	Camptodactyly	9469	CHST3	OMIM:143095
HP:0012385	Camptodactyly	3423	IDS	ORPHA:217085
HP:0012385	Camptodactyly	3423	IDS	ORPHA:217093
HP:0012385	Camptodactyly	2697	GJA1	ORPHA:2710
HP:0012385	Camptodactyly	2697	GJA1	ORPHA:93404
HP:0012385	Camptodactyly	64127	NOD2	OMIM:186580
HP:0012385	Camptodactyly	64127	NOD2	ORPHA:90340
HP:0012385	Camptodactyly	6999	TDO2	OMIM:600627
HP:0012385	Camptodactyly	1302	COL11A2	ORPHA:2021
HP:0012385	Camptodactyly	4929	NR4A2	ORPHA:1617
HP:0012385	Camptodactyly	10716	TBR1	ORPHA:1617
HP:0012385	Camptodactyly	3425	IDUA	OMIM:607015
HP:0012385	Camptodactyly	3425	IDUA	ORPHA:93473
HP:0012385	Camptodactyly	4593	MUSK	OMIM:208150
HP:0012385	Camptodactyly	4593	MUSK	ORPHA:994
HP:0012385	Camptodactyly	56006	SMG9	OMIM:616920
HP:0012385	Camptodactyly	7474	WNT5A	ORPHA:3107
HP:0012385	Camptodactyly	2535	FZD2	ORPHA:3107
HP:0012385	Camptodactyly	9508	ADAMTS3	ORPHA:2136
HP:0012385	Camptodactyly	5189	PEX1	ORPHA:3220
HP:0012385	Camptodactyly	5190	PEX6	ORPHA:3220
HP:0012385	Camptodactyly	5590	PRKCZ	ORPHA:1606
HP:0012385	Camptodactyly	2563	GABRD	ORPHA:1606
HP:0012385	Camptodactyly	23013	SPEN	ORPHA:1606
HP:0012385	Camptodactyly	8510	MMP23B	ORPHA:1606
HP:0012385	Camptodactyly	7798	LUZP1	ORPHA:1606
HP:0012385	Camptodactyly	10630	PDPN	ORPHA:1606
HP:0012385	Camptodactyly	3339	HSPG2	ORPHA:1606
HP:0012385	Camptodactyly	10277	UBE4B	ORPHA:1606
HP:0012385	Camptodactyly	8514	KCNAB2	ORPHA:1606
HP:0012385	Camptodactyly	473	RERE	ORPHA:1606
HP:0012385	Camptodactyly	63976	PRDM16	ORPHA:1606
HP:0012385	Camptodactyly	54897	CASZ1	ORPHA:1606
HP:0012385	Camptodactyly	9719	ADAMTSL2	OMIM:231050
HP:0012385	Camptodactyly	4952	OCRL	OMIM:309000
HP:0012385	Camptodactyly	8517	IKBKG	ORPHA:464
HP:0012385	Camptodactyly	10436	EMG1	ORPHA:1270
HP:0012385	Camptodactyly	57492	ARID1B	ORPHA:251056
HP:0012385	Camptodactyly	11128	POLR3A	ORPHA:3455
HP:0012385	Camptodactyly	2719	GPC3	ORPHA:373
HP:0012385	Camptodactyly	55612	FERMT1	ORPHA:2908
HP:0012385	Camptodactyly	7136	TNNI2	ORPHA:1146
HP:0012385	Camptodactyly	7136	TNNI2	OMIM:601680
HP:0012385	Camptodactyly	64324	NSD1	ORPHA:3447
HP:0012385	Camptodactyly	1723	DHODH	ORPHA:246
HP:0012385	Camptodactyly	54903	MKS1	OMIM:249000
HP:0012385	Camptodactyly	91252	SLC39A13	OMIM:612350
HP:0012385	Camptodactyly	10526	IPO8	ORPHA:60030
HP:0012385	Camptodactyly	7042	TGFB2	ORPHA:60030
HP:0012385	Camptodactyly	7043	TGFB3	ORPHA:60030
HP:0012385	Camptodactyly	3897	L1CAM	ORPHA:2466
HP:0012385	Camptodactyly	7227	TRPS1	ORPHA:77258
HP:0012385	Camptodactyly	27238	GPKOW	ORPHA:2570
HP:0012385	Camptodactyly	10466	COG5	ORPHA:263487
HP:0012385	Camptodactyly	23102	TBC1D2B	OMIM:619323
HP:0012385	Camptodactyly	2068	ERCC2	OMIM:610756
HP:0012385	Camptodactyly	2068	ERCC2	ORPHA:1466
HP:0012385	Camptodactyly	51114	ZDHHC9	ORPHA:776
HP:0012385	Camptodactyly	65109	UPF3B	ORPHA:776
HP:0012385	Camptodactyly	2067	ERCC1	OMIM:610758
HP:0012385	Camptodactyly	2067	ERCC1	ORPHA:1466
HP:0012385	Camptodactyly	114548	NLRP3	ORPHA:575
HP:0012385	Camptodactyly	2073	ERCC5	ORPHA:1466
HP:0012385	Camptodactyly	134701	RIPPLY2	ORPHA:2311
HP:0012385	Camptodactyly	10683	DLL3	ORPHA:2311
HP:0012385	Camptodactyly	3955	LFNG	ORPHA:2311
HP:0012385	Camptodactyly	84667	HES7	ORPHA:2311
HP:0012385	Camptodactyly	145873	MESP2	ORPHA:2311
HP:0012385	Camptodactyly	81620	CDT1	ORPHA:2554
HP:0012385	Camptodactyly	23594	ORC6	ORPHA:2554
HP:0012385	Camptodactyly	8318	CDC45	ORPHA:2554
HP:0012385	Camptodactyly	990	CDC6	ORPHA:2554
HP:0012385	Camptodactyly	51053	GMNN	ORPHA:2554
HP:0012385	Camptodactyly	64327	LMBR1	ORPHA:93405
HP:0012385	Camptodactyly	6469	SHH	ORPHA:93405
HP:0012385	Camptodactyly	55605	KIF21A	ORPHA:994
HP:0012385	Camptodactyly	7846	TUBA1A	ORPHA:994
HP:0012385	Camptodactyly	4654	MYOD1	ORPHA:994
HP:0012385	Camptodactyly	5913	RAPSN	ORPHA:994
HP:0012385	Camptodactyly	6572	SLC18A3	ORPHA:994
HP:0012385	Camptodactyly	285489	DOK7	ORPHA:994
HP:0012385	Camptodactyly	3914	LAMB3	OMIM:226650
HP:0012385	Camptodactyly	8092	ALX1	ORPHA:306542
HP:0012385	Camptodactyly	64840	PORCN	ORPHA:2092
HP:0012385	Camptodactyly	23443	SLC35A3	OMIM:615553
HP:0012385	Camptodactyly	25914	RTTN	ORPHA:468631
HP:0012385	Camptodactyly	8450	CUL4B	ORPHA:85293
HP:0012385	Camptodactyly	1303	COL12A1	ORPHA:610
HP:0012385	Camptodactyly	1291	COL6A1	ORPHA:610
HP:0012385	Camptodactyly	1291	COL6A1	OMIM:158810
HP:0012385	Camptodactyly	1292	COL6A2	ORPHA:610
HP:0012385	Camptodactyly	1293	COL6A3	ORPHA:610
HP:0012385	Camptodactyly	26092	TOR1AIP1	OMIM:617072
HP:0012385	Camptodactyly	8242	KDM5C	ORPHA:85279
HP:0012385	Camptodactyly	59341	TRPV4	ORPHA:2635
HP:0012385	Camptodactyly	10269	ZMPSTE24	ORPHA:1662
HP:0012385	Camptodactyly	23522	KAT6B	ORPHA:3047
HP:0012385	Camptodactyly	64131	XYLT1	ORPHA:1425
HP:0012385	Camptodactyly	124583	CANT1	ORPHA:1425
HP:0012385	Camptodactyly	55790	CSGALNACT1	ORPHA:1425
HP:0012385	Camptodactyly	23529	CLCF1	ORPHA:1545
HP:0012385	Camptodactyly	79693	YRDC	ORPHA:2065
HP:0012385	Camptodactyly	51002	TPRKB	ORPHA:2065
HP:0012385	Camptodactyly	57122	NUP107	ORPHA:2065
HP:0012385	Camptodactyly	10785	WDR4	ORPHA:2065
HP:0012385	Camptodactyly	55746	NUP133	ORPHA:2065
HP:0012385	Camptodactyly	84520	GON7	ORPHA:2065
HP:0012385	Camptodactyly	112858	TP53RK	ORPHA:2065
HP:0012385	Camptodactyly	8270	LAGE3	ORPHA:2065
HP:0012385	Camptodactyly	5696	PSMB8	OMIM:256040
HP:0012385	Camptodactyly	56916	SMARCAD1	ORPHA:1658
HP:0012386	Absent hallux	9896	FIG4	OMIM:216340
HP:0012386	Absent hallux	2737	GLI3	ORPHA:93322
HP:0012387	Bronchitis	27019	DNAI1	OMIM:244400
HP:0012387	Bronchitis	374407	DNAJB13	OMIM:617091
HP:0012387	Bronchitis	83844	USP26	OMIM:301101
HP:0012387	Bronchitis	6595	SMARCA2	OMIM:619293
HP:0012387	Bronchitis	4791	NFKB2	ORPHA:293978
HP:0012387	Bronchitis	4791	NFKB2	ORPHA:1572
HP:0012387	Bronchitis	139818	DOCK11	OMIM:301109
HP:0012387	Bronchitis	115650	TNFRSF13C	OMIM:240500
HP:0012387	Bronchitis	115650	TNFRSF13C	ORPHA:1572
HP:0012387	Bronchitis	29851	ICOS	OMIM:240500
HP:0012387	Bronchitis	29851	ICOS	ORPHA:1572
HP:0012387	Bronchitis	29851	ICOS	OMIM:607594
HP:0012387	Bronchitis	930	CD19	OMIM:240500
HP:0012387	Bronchitis	930	CD19	ORPHA:1572
HP:0012387	Bronchitis	23495	TNFRSF13B	OMIM:240500
HP:0012387	Bronchitis	23495	TNFRSF13B	ORPHA:1572
HP:0012387	Bronchitis	1380	CR2	OMIM:240500
HP:0012387	Bronchitis	1380	CR2	ORPHA:1572
HP:0012387	Bronchitis	84061	MAGT1	OMIM:300853
HP:0012387	Bronchitis	4256	MGP	OMIM:245150
HP:0012387	Bronchitis	6103	RPGR	OMIM:300455
HP:0012387	Bronchitis	123872	DNAAF1	OMIM:613193
HP:0012387	Bronchitis	4683	NBN	OMIM:251260
HP:0012387	Bronchitis	23308	ICOSLG	OMIM:620825
HP:0012387	Bronchitis	2622	GAS8	OMIM:616726
HP:0012387	Bronchitis	23765	IL17RA	OMIM:613953
HP:0012387	Bronchitis	3588	IL10RB	OMIM:612567
HP:0012387	Bronchitis	6890	TAP1	OMIM:604571
HP:0012387	Bronchitis	3561	IL2RG	OMIM:312863
HP:0012387	Bronchitis	974	CD79B	OMIM:612692
HP:0012387	Bronchitis	472	ATM	OMIM:208900
HP:0012387	Bronchitis	973	CD79A	OMIM:613501
HP:0012387	Bronchitis	4790	NFKB1	ORPHA:1572
HP:0012387	Bronchitis	8742	TNFSF12	ORPHA:1572
HP:0012387	Bronchitis	931	MS4A1	ORPHA:1572
HP:0012387	Bronchitis	975	CD81	ORPHA:1572
HP:0012387	Bronchitis	359948	IRF2BP2	ORPHA:1572
HP:0012387	Bronchitis	6901	TAFAZZIN	OMIM:302060
HP:0012387	Bronchitis	26834	RNU4-2	OMIM:620851
HP:0012387	Bronchitis	91039	DPP9	OMIM:620331
HP:0012387	Bronchitis	79158	GNPTAB	OMIM:252500
HP:0012387	Bronchitis	29927	SEC61A1	OMIM:620670
HP:0012387	Bronchitis	64864	RFX7	OMIM:620330
HP:0012387	Bronchitis	1789	DNMT3B	OMIM:242860
HP:0012387	Bronchitis	7840	ALMS1	ORPHA:64
HP:0012387	Bronchitis	6340	SCNN1G	OMIM:613071
HP:0012387	Bronchitis	55130	ODAD2	OMIM:615451
HP:0012387	Bronchitis	2990	GUSB	OMIM:253220
HP:0012387	Bronchitis	9841	ZBTB24	OMIM:614069
HP:0012387	Bronchitis	1080	CFTR	OMIM:211400
HP:0012387	Bronchitis	6338	SCNN1B	OMIM:211400
HP:0012387	Bronchitis	5880	RAC2	OMIM:618986
HP:0012387	Bronchitis	26146	TRAF3IP1	OMIM:616629
HP:0012387	Bronchitis	345895	RSPH4A	OMIM:612649
HP:0012387	Bronchitis	54768	HYDIN	OMIM:608647
HP:0012387	Bronchitis	161582	DNAAF4	OMIM:615482
HP:0012387	Bronchitis	146206	CARMIL2	OMIM:618131
HP:0012387	Bronchitis	6337	SCNN1A	OMIM:613021
HP:0012387	Bronchitis	56683	CFAP298	OMIM:615500
HP:0012387	Bronchitis	5424	POLD1	OMIM:620836
HP:0012387	Bronchitis	54919	DNAAF5	OMIM:614874
HP:0012387	Bronchitis	51364	ZMYND10	OMIM:615444
HP:0012387	Bronchitis	115948	ODAD3	OMIM:616037
HP:0012387	Bronchitis	6891	TAP2	OMIM:620813
HP:0012387	Bronchitis	85478	CCDC65	OMIM:615504
HP:0012387	Bronchitis	6674	SPAG1	OMIM:615505
HP:0012387	Bronchitis	56171	DNAH7	OMIM:620356
HP:0012387	Bronchitis	23639	DNAAF11	OMIM:614935
HP:0012387	Bronchitis	9898	UBAP2L	OMIM:620494
HP:0012387	Bronchitis	55036	CCDC40	OMIM:613808
HP:0012387	Bronchitis	339829	CCDC39	OMIM:613807
HP:0012387	Bronchitis	6850	SYK	OMIM:619381
HP:0012387	Bronchitis	641	BLM	ORPHA:125
HP:0012387	Bronchitis	775	CACNA1C	OMIM:601005
HP:0012387	Bronchitis	10568	SLC34A2	ORPHA:60025
HP:0012387	Bronchitis	5265	SERPINA1	ORPHA:60
HP:0012387	Bronchitis	165918	RNF168	ORPHA:420741
HP:0012387	Bronchitis	3119	HLA-DQB1	ORPHA:930
HP:0012387	Bronchitis	9244	CRLF1	ORPHA:930
HP:0012387	Bronchitis	3117	HLA-DQA1	ORPHA:930
HP:0012387	Bronchitis	4842	NOS1	ORPHA:930
HP:0012387	Bronchitis	3514	IGKC	ORPHA:183675
HP:0012387	Bronchitis	3501	IGHG2	ORPHA:183675
HP:0012387	Bronchitis	23149	FCHO1	OMIM:619164
HP:0012387	Bronchitis	1956	EGFR	OMIM:616069
HP:0012389	Appendicular hypotonia	79158	GNPTAB	ORPHA:576
HP:0012389	Appendicular hypotonia	8504	PEX3	OMIM:617370
HP:0012389	Appendicular hypotonia	25929	GEMIN5	OMIM:619333
HP:0012389	Appendicular hypotonia	2629	GBA1	ORPHA:2072
HP:0012389	Appendicular hypotonia	9698	PUM1	OMIM:620719
HP:0012389	Appendicular hypotonia	5393	EXOSC9	OMIM:618065
HP:0012389	Appendicular hypotonia	23126	POGZ	OMIM:616364
HP:0012389	Appendicular hypotonia	10463	SLC30A9	OMIM:617595
HP:0012389	Appendicular hypotonia	55280	CWF19L1	OMIM:616127
HP:0012389	Appendicular hypotonia	1660	DHX9	OMIM:620988
HP:0012389	Appendicular hypotonia	57282	SLC4A10	OMIM:620746
HP:0012389	Appendicular hypotonia	4358	MPV17	OMIM:256810
HP:0012389	Appendicular hypotonia	775	CACNA1C	OMIM:620029
HP:0012389	Appendicular hypotonia	203190	LGI3	OMIM:620007
HP:0012389	Appendicular hypotonia	83548	COG3	OMIM:620546
HP:0012389	Appendicular hypotonia	10973	ASCC3	OMIM:620700
HP:0012389	Appendicular hypotonia	23219	FBXO28	OMIM:619777
HP:0012389	Appendicular hypotonia	5631	PRPS1	ORPHA:1187
HP:0012389	Appendicular hypotonia	285175	UNC80	OMIM:616801
HP:0012389	Appendicular hypotonia	9570	GOSR2	OMIM:620166
HP:0012389	Appendicular hypotonia	96459	FNIP1	OMIM:619705
HP:0012389	Appendicular hypotonia	375387	NRROS	OMIM:618875
HP:0012389	Appendicular hypotonia	78987	CRELD1	OMIM:620771
HP:0012389	Appendicular hypotonia	63908	NAPB	OMIM:620033
HP:0012389	Appendicular hypotonia	79736	TEFM	OMIM:620451
HP:0001349	Facial diplegia	274	BIN1	ORPHA:169186
HP:0001349	Facial diplegia	10290	SPEG	ORPHA:169186
HP:0001349	Facial diplegia	6261	RYR1	ORPHA:169186
HP:0001349	Facial diplegia	6261	RYR1	ORPHA:98905
HP:0001349	Facial diplegia	7273	TTN	ORPHA:169186
HP:0001349	Facial diplegia	291	SLC25A4	ORPHA:254892
HP:0001349	Facial diplegia	5428	POLG	ORPHA:254892
HP:0001349	Facial diplegia	56652	TWNK	ORPHA:254892
HP:0001349	Facial diplegia	11232	POLG2	ORPHA:254892
HP:0001349	Facial diplegia	50484	RRM2B	ORPHA:254892
HP:0001349	Facial diplegia	4359	MPZ	OMIM:618184
HP:0001349	Facial diplegia	91574	MTRFR	ORPHA:254930
HP:0001349	Facial diplegia	91574	MTRFR	OMIM:613559
HP:0001349	Facial diplegia	8506	CNTNAP1	OMIM:618186
HP:0001349	Facial diplegia	8506	CNTNAP1	OMIM:616286
HP:0001349	Facial diplegia	112	ADCY6	OMIM:616287
HP:0001349	Facial diplegia	7170	TPM3	OMIM:609284
HP:0001349	Facial diplegia	7170	TPM3	ORPHA:171439
HP:0001349	Facial diplegia	7170	TPM3	ORPHA:171433
HP:0001349	Facial diplegia	7415	VCP	ORPHA:329478
HP:0001349	Facial diplegia	7169	TPM2	OMIM:609285
HP:0001349	Facial diplegia	7169	TPM2	ORPHA:171439
HP:0001349	Facial diplegia	7169	TPM2	ORPHA:171436
HP:0001349	Facial diplegia	2733	GLE1	OMIM:611890
HP:0001349	Facial diplegia	7084	TK2	OMIM:609560
HP:0001349	Facial diplegia	1410	CRYAB	ORPHA:399058
HP:0001349	Facial diplegia	84665	MYPN	ORPHA:171439
HP:0001349	Facial diplegia	58	ACTA1	ORPHA:171439
HP:0001349	Facial diplegia	58	ACTA1	ORPHA:171436
HP:0001349	Facial diplegia	58	ACTA1	ORPHA:171433
HP:0001349	Facial diplegia	58	ACTA1	ORPHA:171430
HP:0001349	Facial diplegia	390594	KBTBD13	ORPHA:171439
HP:0001349	Facial diplegia	4703	NEB	ORPHA:171439
HP:0001349	Facial diplegia	4703	NEB	ORPHA:171436
HP:0001349	Facial diplegia	4703	NEB	ORPHA:171433
HP:0001349	Facial diplegia	4703	NEB	ORPHA:171430
HP:0001349	Facial diplegia	10324	KLHL41	ORPHA:171439
HP:0001349	Facial diplegia	10324	KLHL41	ORPHA:171436
HP:0001349	Facial diplegia	10324	KLHL41	ORPHA:171433
HP:0001349	Facial diplegia	10324	KLHL41	ORPHA:171430
HP:0001349	Facial diplegia	19	ABCA1	OMIM:205400
HP:0001349	Facial diplegia	19	ABCA1	ORPHA:31150
HP:0001349	Facial diplegia	113278	SLC52A3	OMIM:211500
HP:0001349	Facial diplegia	9997	SCO2	ORPHA:521411
HP:0001349	Facial diplegia	253738	EBF3	ORPHA:96148
HP:0001349	Facial diplegia	9289	ADGRG1	ORPHA:98889
HP:0001349	Facial diplegia	5297	PI4KA	ORPHA:98889
HP:0001349	Facial diplegia	27286	SRPX2	ORPHA:98889
HP:0001349	Facial diplegia	56203	LMOD3	ORPHA:171436
HP:0001349	Facial diplegia	56203	LMOD3	ORPHA:171430
HP:0001349	Facial diplegia	1073	CFL2	ORPHA:171436
HP:0001349	Facial diplegia	8803	SUCLA2	OMIM:612073
HP:0001349	Facial diplegia	6472	SHMT2	OMIM:619121
HP:0001349	Facial diplegia	131377	KLHL40	ORPHA:171430
HP:0001349	Facial diplegia	10730	YME1L1	OMIM:617302
HP:0001349	Facial diplegia	79147	FKRP	ORPHA:370980
HP:0001349	Facial diplegia	2218	FKTN	ORPHA:370980
HP:0001349	Facial diplegia	729920	CRPPA	ORPHA:370980
HP:0001349	Facial diplegia	10585	POMT1	ORPHA:370980
HP:0001349	Facial diplegia	1760	DMPK	OMIM:160900
HP:0001349	Facial diplegia	9990	SLC12A6	OMIM:218000
HP:0001349	Facial diplegia	50964	SOST	OMIM:122860
HP:0007086	Social and occupational deterioration	1387	CREBBP	ORPHA:353277
HP:0007086	Social and occupational deterioration	1387	CREBBP	ORPHA:353281
HP:0007086	Social and occupational deterioration	2033	EP300	ORPHA:353284
HP:0007086	Social and occupational deterioration	2903	GRIN2A	ORPHA:98818
HP:0007086	Social and occupational deterioration	23780	APOL2	OMIM:181500
HP:0007086	Social and occupational deterioration	267012	DAOA	OMIM:181500
HP:0007086	Social and occupational deterioration	3356	HTR2A	OMIM:181500
HP:0007086	Social and occupational deterioration	6854	SYN2	OMIM:181500
HP:0007086	Social and occupational deterioration	1814	DRD3	OMIM:181500
HP:0007086	Social and occupational deterioration	1312	COMT	OMIM:181500
HP:0007086	Social and occupational deterioration	4524	MTHFR	OMIM:181500
HP:0007086	Social and occupational deterioration	27184	DISC2	OMIM:181500
HP:0007086	Social and occupational deterioration	65078	RTN4R	OMIM:181500
HP:0007086	Social and occupational deterioration	80832	APOL4	OMIM:181500
HP:0007086	Social and occupational deterioration	1116	CHI3L1	OMIM:181500
HP:0007086	Social and occupational deterioration	4137	MAPT	ORPHA:240071
HP:0009830	Peripheral neuropathy	773	CACNA1A	OMIM:183086
HP:0009830	Peripheral neuropathy	87178	PNPT1	ORPHA:101111
HP:0009830	Peripheral neuropathy	87178	PNPT1	ORPHA:319514
HP:0009830	Peripheral neuropathy	87178	PNPT1	OMIM:608703
HP:0009830	Peripheral neuropathy	9150	CTDP1	ORPHA:48431
HP:0009830	Peripheral neuropathy	59341	TRPV4	OMIM:606071
HP:0009830	Peripheral neuropathy	7040	TGFB1	ORPHA:1328
HP:0009830	Peripheral neuropathy	57679	ALS2	ORPHA:247604
HP:0009830	Peripheral neuropathy	11160	ERLIN2	ORPHA:247604
HP:0009830	Peripheral neuropathy	1311	COMP	OMIM:177170
HP:0009830	Peripheral neuropathy	5354	PLP1	ORPHA:99015
HP:0009830	Peripheral neuropathy	2934	GSN	ORPHA:85448
HP:0009830	Peripheral neuropathy	23230	VPS13A	OMIM:200150
HP:0009830	Peripheral neuropathy	23204	ARL6IP1	OMIM:615685
HP:0009830	Peripheral neuropathy	23600	AMACR	ORPHA:79095
HP:0009830	Peripheral neuropathy	80208	SPG11	OMIM:604360
HP:0009830	Peripheral neuropathy	1185	CLCN6	OMIM:619173
HP:0009830	Peripheral neuropathy	7518	XRCC4	OMIM:616541
HP:0009830	Peripheral neuropathy	2395	FXN	OMIM:229300
HP:0009830	Peripheral neuropathy	1384	CRAT	OMIM:617917
HP:0009830	Peripheral neuropathy	85021	REPS1	OMIM:617916
HP:0009830	Peripheral neuropathy	463	ZFHX3	OMIM:600223
HP:0009830	Peripheral neuropathy	7156	TOP3A	OMIM:618098
HP:0009830	Peripheral neuropathy	667	DST	OMIM:614653
HP:0009830	Peripheral neuropathy	55361	PI4K2A	OMIM:620732
HP:0009830	Peripheral neuropathy	79158	GNPTAB	OMIM:252600
HP:0009830	Peripheral neuropathy	7384	UQCRC1	OMIM:619279
HP:0009830	Peripheral neuropathy	9420	CYP7B1	ORPHA:100986
HP:0009830	Peripheral neuropathy	5193	PEX12	OMIM:266510
HP:0009830	Peripheral neuropathy	23345	SYNE1	ORPHA:88644
HP:0009830	Peripheral neuropathy	6711	SPTBN1	OMIM:619475
HP:0009830	Peripheral neuropathy	5702	PSMC3	OMIM:619354
HP:0009830	Peripheral neuropathy	2517	FUCA1	OMIM:230000
HP:0009830	Peripheral neuropathy	50846	DHH	OMIM:607080
HP:0009830	Peripheral neuropathy	50846	DHH	ORPHA:168563
HP:0009830	Peripheral neuropathy	22934	RPIA	OMIM:608611
HP:0009830	Peripheral neuropathy	25814	ATXN10	OMIM:603516
HP:0009830	Peripheral neuropathy	10229	COQ7	OMIM:616733
HP:0009830	Peripheral neuropathy	1910	EDNRB	OMIM:277580
HP:0009830	Peripheral neuropathy	2911	GRM1	OMIM:614831
HP:0009830	Peripheral neuropathy	2911	GRM1	ORPHA:324262
HP:0009830	Peripheral neuropathy	540	ATP7B	OMIM:277900
HP:0009830	Peripheral neuropathy	9516	LITAF	OMIM:601098
HP:0009830	Peripheral neuropathy	966	CD59	OMIM:612300
HP:0009830	Peripheral neuropathy	162417	NAGS	ORPHA:927
HP:0009830	Peripheral neuropathy	55157	DARS2	ORPHA:137898
HP:0009830	Peripheral neuropathy	5173	PDYN	OMIM:610245
HP:0009830	Peripheral neuropathy	8799	PEX11B	OMIM:614920
HP:0009830	Peripheral neuropathy	3117	HLA-DQA1	OMIM:212750
HP:0009830	Peripheral neuropathy	3119	HLA-DQB1	OMIM:212750
HP:0009830	Peripheral neuropathy	10295	BCKDK	OMIM:614923
HP:0009830	Peripheral neuropathy	1716	DGUOK	OMIM:251880
HP:0009830	Peripheral neuropathy	54968	TMEM70	OMIM:614052
HP:0009830	Peripheral neuropathy	51117	COQ4	OMIM:616276
HP:0009830	Peripheral neuropathy	567	B2M	OMIM:620659
HP:0009830	Peripheral neuropathy	84668	HYCC1	OMIM:610532
HP:0009830	Peripheral neuropathy	23064	SETX	OMIM:606002
HP:0009830	Peripheral neuropathy	4763	NF1	ORPHA:97685
HP:0009830	Peripheral neuropathy	340075	ARSI	ORPHA:401815
HP:0009830	Peripheral neuropathy	23646	PLD3	OMIM:617770
HP:0009830	Peripheral neuropathy	25923	ATL3	OMIM:615632
HP:0009830	Peripheral neuropathy	391356	PTRHD1	OMIM:620747
HP:0009830	Peripheral neuropathy	4762	NEUROG1	OMIM:620469
HP:0009830	Peripheral neuropathy	2259	FGF14	ORPHA:98764
HP:0009830	Peripheral neuropathy	57165	GJC2	OMIM:608804
HP:0009830	Peripheral neuropathy	3074	HEXB	ORPHA:309169
HP:0009830	Peripheral neuropathy	6472	SHMT2	OMIM:619121
HP:0009830	Peripheral neuropathy	63895	PIEZO2	OMIM:617146
HP:0009830	Peripheral neuropathy	219285	SAMD9L	OMIM:619806
HP:0009830	Peripheral neuropathy	3178	HNRNPA1	ORPHA:52430
HP:0009830	Peripheral neuropathy	3181	HNRNPA2B1	ORPHA:52430
HP:0009830	Peripheral neuropathy	51	ACOX1	OMIM:618960
HP:0009830	Peripheral neuropathy	116228	COX20	OMIM:619054
HP:0009830	Peripheral neuropathy	1509	CTSD	OMIM:610127
HP:0009830	Peripheral neuropathy	8139	GAN	OMIM:256850
HP:0009830	Peripheral neuropathy	8449	DHX16	OMIM:618733
HP:0009830	Peripheral neuropathy	144165	PRICKLE1	OMIM:612437
HP:0009830	Peripheral neuropathy	4000	LMNA	ORPHA:98856
HP:0009830	Peripheral neuropathy	10558	SPTLC1	OMIM:162400
HP:0009830	Peripheral neuropathy	1756	DMD	ORPHA:206546
HP:0009830	Peripheral neuropathy	9488	PIGB	OMIM:618580
HP:0009830	Peripheral neuropathy	23769	FLRT1	ORPHA:320406
HP:0009830	Peripheral neuropathy	64837	KLC2	ORPHA:320406
HP:0009830	Peripheral neuropathy	80821	DDHD1	OMIM:609340
HP:0009830	Peripheral neuropathy	50717	DCAF8	OMIM:610100
HP:0009830	Peripheral neuropathy	57704	GBA2	ORPHA:352641
HP:0009830	Peripheral neuropathy	57704	GBA2	ORPHA:320391
HP:0009830	Peripheral neuropathy	673	BRAF	OMIM:115150
HP:0009830	Peripheral neuropathy	19	ABCA1	OMIM:205400
HP:0009830	Peripheral neuropathy	19	ABCA1	ORPHA:31150
HP:0009830	Peripheral neuropathy	5361	PLXNA1	OMIM:619955
HP:0009830	Peripheral neuropathy	10516	FBLN5	OMIM:608895
HP:0009830	Peripheral neuropathy	274	BIN1	ORPHA:169189
HP:0009830	Peripheral neuropathy	64419	MTMR14	ORPHA:169189
HP:0009830	Peripheral neuropathy	4618	MYF6	ORPHA:169189
HP:0009830	Peripheral neuropathy	1785	DNM2	ORPHA:169189
HP:0009830	Peripheral neuropathy	6261	RYR1	ORPHA:169189
HP:0009830	Peripheral neuropathy	200205	IBA57	ORPHA:468661
HP:0009830	Peripheral neuropathy	200205	IBA57	OMIM:616451
HP:0009830	Peripheral neuropathy	55187	VPS13D	OMIM:607317
HP:0009830	Peripheral neuropathy	81790	RNF170	OMIM:619686
HP:0009830	Peripheral neuropathy	478	ATP1A3	OMIM:601338
HP:0009830	Peripheral neuropathy	55182	RNF220	OMIM:619688
HP:0009830	Peripheral neuropathy	6905	TBCE	ORPHA:496756
HP:0009830	Peripheral neuropathy	6905	TBCE	OMIM:617207
HP:0009830	Peripheral neuropathy	271	AMPD2	OMIM:615809
HP:0009830	Peripheral neuropathy	6774	STAT3	ORPHA:99885
HP:0009830	Peripheral neuropathy	2645	GCK	ORPHA:99885
HP:0009830	Peripheral neuropathy	3651	PDX1	ORPHA:99885
HP:0009830	Peripheral neuropathy	3630	INS	ORPHA:99885
HP:0009830	Peripheral neuropathy	8888	MCM3AP	OMIM:618124
HP:0009830	Peripheral neuropathy	23250	ATP11A	OMIM:619851
HP:0009830	Peripheral neuropathy	23321	TRIM2	OMIM:615490
HP:0009830	Peripheral neuropathy	10381	TUBB3	OMIM:600638
HP:0009830	Peripheral neuropathy	79628	SH3TC2	OMIM:613353
HP:0009830	Peripheral neuropathy	91137	SLC25A46	OMIM:616505
HP:0009830	Peripheral neuropathy	91137	SLC25A46	ORPHA:2254
HP:0009830	Peripheral neuropathy	51008	ASCC1	OMIM:616867
HP:0009830	Peripheral neuropathy	9325	TRIP4	OMIM:616866
HP:0009830	Peripheral neuropathy	5351	PLOD1	ORPHA:1900
HP:0009830	Peripheral neuropathy	10939	AFG3L2	ORPHA:313772
HP:0009830	Peripheral neuropathy	10367	MICU1	ORPHA:401768
HP:0009830	Peripheral neuropathy	10367	MICU1	OMIM:615673
HP:0009830	Peripheral neuropathy	23400	ATP13A2	ORPHA:513436
HP:0009830	Peripheral neuropathy	23400	ATP13A2	OMIM:617225
HP:0009830	Peripheral neuropathy	2064	ERBB2	OMIM:619465
HP:0009830	Peripheral neuropathy	55210	ATAD3A	OMIM:618810
HP:0009830	Peripheral neuropathy	55210	ATAD3A	ORPHA:496790
HP:0009830	Peripheral neuropathy	55210	ATAD3A	OMIM:617183
HP:0009830	Peripheral neuropathy	2783	GNB2	OMIM:619503
HP:0009830	Peripheral neuropathy	3475	IFRD1	ORPHA:98771
HP:0009830	Peripheral neuropathy	3735	KARS1	OMIM:619196
HP:0009830	Peripheral neuropathy	113612	CYP2U1	OMIM:615030
HP:0009830	Peripheral neuropathy	113612	CYP2U1	ORPHA:320411
HP:0009830	Peripheral neuropathy	65260	COA7	OMIM:618387
HP:0009830	Peripheral neuropathy	7415	VCP	ORPHA:435387
HP:0009830	Peripheral neuropathy	3845	KRAS	OMIM:615278
HP:0009830	Peripheral neuropathy	1660	DHX9	OMIM:620988
HP:0009830	Peripheral neuropathy	11340	EXOSC8	ORPHA:2254
HP:0009830	Peripheral neuropathy	5393	EXOSC9	ORPHA:2254
HP:0009830	Peripheral neuropathy	23287	AGTPBP1	ORPHA:2254
HP:0009830	Peripheral neuropathy	51010	EXOSC3	ORPHA:2254
HP:0009830	Peripheral neuropathy	7443	VRK1	ORPHA:2254
HP:0009830	Peripheral neuropathy	7345	UCHL1	OMIM:620221
HP:0009830	Peripheral neuropathy	23503	ZFYVE26	OMIM:270700
HP:0009830	Peripheral neuropathy	23503	ZFYVE26	ORPHA:100996
HP:0009830	Peripheral neuropathy	4311	MME	ORPHA:497764
HP:0009830	Peripheral neuropathy	3766	KCNJ10	ORPHA:199343
HP:0009830	Peripheral neuropathy	55958	KLHL9	ORPHA:399081
HP:0009830	Peripheral neuropathy	4076	CAPRIN1	OMIM:620636
HP:0009830	Peripheral neuropathy	6785	ELOVL4	OMIM:133190
HP:0009830	Peripheral neuropathy	80347	COASY	ORPHA:397725
HP:0009830	Peripheral neuropathy	22880	MORC2	OMIM:619090
HP:0009830	Peripheral neuropathy	9147	NEMF	OMIM:619099
HP:0009830	Peripheral neuropathy	2733	GLE1	OMIM:611890
HP:0009830	Peripheral neuropathy	60386	SLC25A19	OMIM:613710
HP:0009830	Peripheral neuropathy	23533	PIK3R5	OMIM:615217
HP:0009830	Peripheral neuropathy	57731	SPTBN4	OMIM:617519
HP:0009830	Peripheral neuropathy	5832	ALDH18A1	ORPHA:447757
HP:0009830	Peripheral neuropathy	4556	MT-TE	ORPHA:2596
HP:0009830	Peripheral neuropathy	710	SERPING1	OMIM:106100
HP:0009830	Peripheral neuropathy	26353	HSPB8	OMIM:608673
HP:0009830	Peripheral neuropathy	3798	KIF5A	ORPHA:100991
HP:0009830	Peripheral neuropathy	27072	VPS41	OMIM:619389
HP:0009830	Peripheral neuropathy	3852	KRT5	ORPHA:79400
HP:0009830	Peripheral neuropathy	3861	KRT14	ORPHA:79400
HP:0009830	Peripheral neuropathy	2184	FAH	OMIM:276700
HP:0009830	Peripheral neuropathy	6904	TBCD	ORPHA:496641
HP:0009830	Peripheral neuropathy	64856	VWA1	OMIM:619216
HP:0009830	Peripheral neuropathy	3839	KPNA3	OMIM:620106
HP:0009830	Peripheral neuropathy	29926	GMPPA	ORPHA:869
HP:0009830	Peripheral neuropathy	60684	TRAPPC11	ORPHA:869
HP:0009830	Peripheral neuropathy	8086	AAAS	ORPHA:869
HP:0009830	Peripheral neuropathy	8086	AAAS	OMIM:231550
HP:0009830	Peripheral neuropathy	57599	WDR48	ORPHA:401800
HP:0009830	Peripheral neuropathy	6687	SPG7	ORPHA:35689
HP:0009830	Peripheral neuropathy	7504	XK	OMIM:300842
HP:0009830	Peripheral neuropathy	51305	KCNK9	ORPHA:166108
HP:0009830	Peripheral neuropathy	7453	WARS1	OMIM:617721
HP:0009830	Peripheral neuropathy	5192	PEX10	OMIM:614871
HP:0009830	Peripheral neuropathy	5192	PEX10	ORPHA:247815
HP:0009830	Peripheral neuropathy	26834	RNU4-2	OMIM:620851
HP:0009830	Peripheral neuropathy	22943	DKK1	ORPHA:268882
HP:0009830	Peripheral neuropathy	51651	PTRH2	OMIM:616263
HP:0009830	Peripheral neuropathy	4897	NRCAM	OMIM:619833
HP:0009830	Peripheral neuropathy	8560	DEGS1	OMIM:618404
HP:0009830	Peripheral neuropathy	7841	MOGS	OMIM:606056
HP:0009830	Peripheral neuropathy	11145	PLAAT3	OMIM:620683
HP:0009830	Peripheral neuropathy	10397	NDRG1	ORPHA:99950
HP:0009830	Peripheral neuropathy	4537	MT-ND3	ORPHA:255210
HP:0009830	Peripheral neuropathy	4577	MT-TV	ORPHA:255210
HP:0009830	Peripheral neuropathy	4126	MANBA	OMIM:248510
HP:0009830	Peripheral neuropathy	26090	ABHD12	OMIM:612674
HP:0009830	Peripheral neuropathy	50	ACO2	OMIM:614559
HP:0009830	Peripheral neuropathy	9531	BAG3	OMIM:612954
HP:0009830	Peripheral neuropathy	10535	RNASEH2A	ORPHA:51
HP:0009830	Peripheral neuropathy	84153	RNASEH2C	ORPHA:51
HP:0009830	Peripheral neuropathy	25939	SAMHD1	ORPHA:51
HP:0009830	Peripheral neuropathy	79621	RNASEH2B	ORPHA:51
HP:0009830	Peripheral neuropathy	103	ADAR	ORPHA:51
HP:0009830	Peripheral neuropathy	11277	TREX1	ORPHA:51
HP:0009830	Peripheral neuropathy	134353	LSM11	ORPHA:51
HP:0009830	Peripheral neuropathy	64135	IFIH1	ORPHA:51
HP:0009830	Peripheral neuropathy	165918	RNF168	ORPHA:420741
HP:0009830	Peripheral neuropathy	410	ARSA	ORPHA:309271
HP:0009830	Peripheral neuropathy	410	ARSA	ORPHA:309263
HP:0009830	Peripheral neuropathy	410	ARSA	ORPHA:309256
HP:0009830	Peripheral neuropathy	410	ARSA	OMIM:250100
HP:0009830	Peripheral neuropathy	84334	COA8	ORPHA:436271
HP:0009830	Peripheral neuropathy	79581	SLC52A2	OMIM:614707
HP:0009830	Peripheral neuropathy	5521	PPP2R2B	OMIM:604326
HP:0009830	Peripheral neuropathy	5521	PPP2R2B	ORPHA:98762
HP:0009830	Peripheral neuropathy	10978	CLP1	ORPHA:411493
HP:0009830	Peripheral neuropathy	3908	LAMA2	ORPHA:258
HP:0009830	Peripheral neuropathy	3908	LAMA2	OMIM:618138
HP:0009830	Peripheral neuropathy	10059	DNM1L	ORPHA:98673
HP:0009830	Peripheral neuropathy	28958	COA3	OMIM:619058
HP:0009830	Peripheral neuropathy	51608	GET4	OMIM:620200
HP:0009830	Peripheral neuropathy	2583	B4GALNT1	ORPHA:101006
HP:0009830	Peripheral neuropathy	112812	FDX2	OMIM:251900
HP:0009830	Peripheral neuropathy	191	AHCY	ORPHA:88618
HP:0009830	Peripheral neuropathy	9517	SPTLC2	OMIM:613640
HP:0009830	Peripheral neuropathy	4744	NEFH	OMIM:616924
HP:0009830	Peripheral neuropathy	4361	MRE11	ORPHA:251347
HP:0009830	Peripheral neuropathy	476	ATP1A1	OMIM:618036
HP:0009830	Peripheral neuropathy	3295	HSD17B4	OMIM:233400
HP:0009830	Peripheral neuropathy	23529	CLCF1	OMIM:610313
HP:0009830	Peripheral neuropathy	7515	XRCC1	OMIM:617633
HP:0009830	Peripheral neuropathy	6240	RRM1	OMIM:620647
HP:0009830	Peripheral neuropathy	3508	IGHMBP2	OMIM:616155
HP:0009830	Peripheral neuropathy	2629	GBA1	ORPHA:77259
HP:0009830	Peripheral neuropathy	950	SCARB2	ORPHA:77259
HP:0009830	Peripheral neuropathy	3094	HINT1	ORPHA:324442
HP:0009830	Peripheral neuropathy	7317	UBA1	ORPHA:1145
HP:0009830	Peripheral neuropathy	51692	CPSF3	OMIM:619876
HP:0009830	Peripheral neuropathy	26580	BSCL2	ORPHA:139536
HP:0009830	Peripheral neuropathy	4649	MYO9A	ORPHA:98914
HP:0009830	Peripheral neuropathy	1305	COL13A1	ORPHA:98914
HP:0009830	Peripheral neuropathy	1103	CHAT	ORPHA:98914
HP:0009830	Peripheral neuropathy	6576	SLC25A1	ORPHA:98914
HP:0009830	Peripheral neuropathy	6843	VAMP1	ORPHA:98914
HP:0009830	Peripheral neuropathy	375790	AGRN	ORPHA:98914
HP:0009830	Peripheral neuropathy	127833	SYT2	ORPHA:98914
HP:0009830	Peripheral neuropathy	6572	SLC18A3	ORPHA:98914
HP:0009830	Peripheral neuropathy	6616	SNAP25	ORPHA:98914
HP:0009830	Peripheral neuropathy	85465	SELENOI	ORPHA:506353
HP:0009830	Peripheral neuropathy	84342	COG8	ORPHA:95428
HP:0009830	Peripheral neuropathy	84342	COG8	OMIM:611182
HP:0009830	Peripheral neuropathy	9131	AIFM1	ORPHA:238329
HP:0009830	Peripheral neuropathy	26191	PTPN22	ORPHA:397
HP:0009830	Peripheral neuropathy	26191	PTPN22	ORPHA:900
HP:0009830	Peripheral neuropathy	3106	HLA-B	ORPHA:397
HP:0009830	Peripheral neuropathy	3123	HLA-DRB1	ORPHA:397
HP:0009830	Peripheral neuropathy	3123	HLA-DRB1	ORPHA:797
HP:0009830	Peripheral neuropathy	8974	P4HA2	ORPHA:397
HP:0009830	Peripheral neuropathy	10749	KIF1C	ORPHA:397946
HP:0009830	Peripheral neuropathy	5573	PRKAR1A	ORPHA:950
HP:0009830	Peripheral neuropathy	5144	PDE4D	ORPHA:950
HP:0009830	Peripheral neuropathy	4524	MTHFR	ORPHA:395
HP:0009830	Peripheral neuropathy	4099	MAG	OMIM:616680
HP:0009830	Peripheral neuropathy	6834	SURF1	OMIM:616684
HP:0009830	Peripheral neuropathy	55532	SLC30A10	ORPHA:309854
HP:0009830	Peripheral neuropathy	27247	NFU1	OMIM:620938
HP:0009830	Peripheral neuropathy	8518	ELP1	ORPHA:1764
HP:0009830	Peripheral neuropathy	7148	TNXB	ORPHA:230839
HP:0009830	Peripheral neuropathy	1161	ERCC8	ORPHA:90324
HP:0009830	Peripheral neuropathy	2074	ERCC6	ORPHA:90324
HP:0009830	Peripheral neuropathy	2074	ERCC6	OMIM:278800
HP:0009830	Peripheral neuropathy	2074	ERCC6	ORPHA:1466
HP:0009830	Peripheral neuropathy	5631	PRPS1	ORPHA:411543
HP:0009830	Peripheral neuropathy	5631	PRPS1	ORPHA:99014
HP:0009830	Peripheral neuropathy	5631	PRPS1	ORPHA:411536
HP:0009830	Peripheral neuropathy	5631	PRPS1	ORPHA:1187
HP:0009830	Peripheral neuropathy	5631	PRPS1	OMIM:300661
HP:0009830	Peripheral neuropathy	5631	PRPS1	OMIM:301835
HP:0009830	Peripheral neuropathy	9927	MFN2	OMIM:151800
HP:0009830	Peripheral neuropathy	9927	MFN2	ORPHA:2398
HP:0009830	Peripheral neuropathy	1593	CYP27A1	OMIM:213700
HP:0009830	Peripheral neuropathy	1593	CYP27A1	ORPHA:909
HP:0009830	Peripheral neuropathy	5165	PDK3	OMIM:300905
HP:0009830	Peripheral neuropathy	11284	PNKP	ORPHA:459033
HP:0009830	Peripheral neuropathy	11284	PNKP	OMIM:616267
HP:0009830	Peripheral neuropathy	1786	DNMT1	ORPHA:314404
HP:0009830	Peripheral neuropathy	55775	TDP1	ORPHA:94124
HP:0009830	Peripheral neuropathy	51816	ADA2	ORPHA:820
HP:0009830	Peripheral neuropathy	51816	ADA2	OMIM:615688
HP:0009830	Peripheral neuropathy	80270	HSD3B7	ORPHA:79301
HP:0009830	Peripheral neuropathy	5428	POLG	ORPHA:94125
HP:0009830	Peripheral neuropathy	5428	POLG	ORPHA:298
HP:0009830	Peripheral neuropathy	5428	POLG	ORPHA:254892
HP:0009830	Peripheral neuropathy	5428	POLG	ORPHA:254886
HP:0009830	Peripheral neuropathy	5428	POLG	OMIM:603041
HP:0009830	Peripheral neuropathy	7879	RAB7A	OMIM:600882
HP:0009830	Peripheral neuropathy	5660	PSAP	OMIM:249900
HP:0009830	Peripheral neuropathy	5660	PSAP	ORPHA:206436
HP:0009830	Peripheral neuropathy	162	AP1B1	OMIM:242150
HP:0009830	Peripheral neuropathy	162	AP1B1	ORPHA:171851
HP:0009830	Peripheral neuropathy	4552	MTRR	ORPHA:2169
HP:0009830	Peripheral neuropathy	16	AARS1	OMIM:616339
HP:0009830	Peripheral neuropathy	16	AARS1	ORPHA:33364
HP:0009830	Peripheral neuropathy	2314	FLII	ORPHA:819
HP:0009830	Peripheral neuropathy	23096	IQSEC2	ORPHA:819
HP:0009830	Peripheral neuropathy	10743	RAI1	ORPHA:819
HP:0009830	Peripheral neuropathy	10743	RAI1	OMIM:182290
HP:0009830	Peripheral neuropathy	10522	DEAF1	ORPHA:819
HP:0009830	Peripheral neuropathy	5498	PPOX	OMIM:176200
HP:0009830	Peripheral neuropathy	25778	DSTYK	OMIM:270750
HP:0009830	Peripheral neuropathy	1890	TYMP	ORPHA:298
HP:0009830	Peripheral neuropathy	1890	TYMP	OMIM:603041
HP:0009830	Peripheral neuropathy	3980	LIG3	ORPHA:298
HP:0009830	Peripheral neuropathy	50484	RRM2B	ORPHA:298
HP:0009830	Peripheral neuropathy	50484	RRM2B	ORPHA:254892
HP:0009830	Peripheral neuropathy	51324	SPG21	OMIM:248900
HP:0009830	Peripheral neuropathy	60482	SLC5A7	OMIM:158580
HP:0009830	Peripheral neuropathy	4509	MT-ATP8	ORPHA:254913
HP:0009830	Peripheral neuropathy	514	ATP5F1E	ORPHA:254913
HP:0009830	Peripheral neuropathy	514	ATP5F1E	OMIM:614053
HP:0009830	Peripheral neuropathy	513	ATP5F1D	ORPHA:254913
HP:0009830	Peripheral neuropathy	498	ATP5F1A	ORPHA:254913
HP:0009830	Peripheral neuropathy	4508	MT-ATP6	ORPHA:254913
HP:0009830	Peripheral neuropathy	4508	MT-ATP6	ORPHA:104
HP:0009830	Peripheral neuropathy	84833	ATP5MK	ORPHA:254913
HP:0009830	Peripheral neuropathy	91647	ATPAF2	ORPHA:254913
HP:0009830	Peripheral neuropathy	215	ABCD1	ORPHA:139399
HP:0009830	Peripheral neuropathy	215	ABCD1	ORPHA:139396
HP:0009830	Peripheral neuropathy	2200	FBN1	ORPHA:2833
HP:0009830	Peripheral neuropathy	2200	FBN1	OMIM:184900
HP:0009830	Peripheral neuropathy	55699	IARS2	ORPHA:436174
HP:0009830	Peripheral neuropathy	55699	IARS2	OMIM:616007
HP:0009830	Peripheral neuropathy	10908	PNPLA6	ORPHA:3363
HP:0009830	Peripheral neuropathy	10908	PNPLA6	OMIM:245800
HP:0009830	Peripheral neuropathy	8398	PLA2G6	ORPHA:35069
HP:0009830	Peripheral neuropathy	2332	FMR1	ORPHA:93256
HP:0009830	Peripheral neuropathy	2332	FMR1	OMIM:300623
HP:0009830	Peripheral neuropathy	7276	TTR	OMIM:105210
HP:0009830	Peripheral neuropathy	7276	TTR	ORPHA:85451
HP:0009830	Peripheral neuropathy	7276	TTR	OMIM:115430
HP:0009830	Peripheral neuropathy	823	CAPN1	OMIM:616907
HP:0009830	Peripheral neuropathy	823	CAPN1	ORPHA:488594
HP:0009830	Peripheral neuropathy	1130	LYST	ORPHA:167
HP:0009830	Peripheral neuropathy	1130	LYST	ORPHA:352723
HP:0009830	Peripheral neuropathy	343641	TGM6	ORPHA:276193
HP:0009830	Peripheral neuropathy	7274	TTPA	ORPHA:96
HP:0009830	Peripheral neuropathy	26278	SACS	ORPHA:98
HP:0009830	Peripheral neuropathy	79152	FA2H	ORPHA:329308
HP:0009830	Peripheral neuropathy	23203	PMPCA	ORPHA:1170
HP:0009830	Peripheral neuropathy	246243	RNASEH1	OMIM:616479
HP:0009830	Peripheral neuropathy	113235	SLC46A1	OMIM:229050
HP:0009830	Peripheral neuropathy	113235	SLC46A1	ORPHA:90045
HP:0009830	Peripheral neuropathy	9907	AP5Z1	OMIM:613647
HP:0009830	Peripheral neuropathy	9907	AP5Z1	ORPHA:306511
HP:0009830	Peripheral neuropathy	4853	NOTCH2	ORPHA:955
HP:0009830	Peripheral neuropathy	113278	SLC52A3	OMIM:211530
HP:0009830	Peripheral neuropathy	1174	AP1S1	OMIM:609313
HP:0009830	Peripheral neuropathy	1174	AP1S1	ORPHA:171851
HP:0009830	Peripheral neuropathy	4854	NOTCH3	OMIM:125310
HP:0009830	Peripheral neuropathy	54332	GDAP1	OMIM:608340
HP:0009830	Peripheral neuropathy	2243	FGA	OMIM:105200
HP:0009830	Peripheral neuropathy	10804	GJB6	ORPHA:477
HP:0009830	Peripheral neuropathy	2706	GJB2	ORPHA:477
HP:0009830	Peripheral neuropathy	10801	SEPTIN9	OMIM:162100
HP:0009830	Peripheral neuropathy	10801	SEPTIN9	ORPHA:2901
HP:0009830	Peripheral neuropathy	55768	NGLY1	OMIM:615273
HP:0009830	Peripheral neuropathy	23312	DMXL2	OMIM:618663
HP:0009830	Peripheral neuropathy	595	CCND1	ORPHA:29073
HP:0009830	Peripheral neuropathy	8879	SGPL1	OMIM:617575
HP:0009830	Peripheral neuropathy	51660	MPC1	OMIM:614741
HP:0009830	Peripheral neuropathy	54840	APTX	ORPHA:1168
HP:0009830	Peripheral neuropathy	57863	CADM3	OMIM:619519
HP:0009830	Peripheral neuropathy	5376	PMP22	OMIM:118220
HP:0009830	Peripheral neuropathy	5376	PMP22	OMIM:162500
HP:0009830	Peripheral neuropathy	5376	PMP22	ORPHA:640
HP:0009830	Peripheral neuropathy	7454	WAS	ORPHA:906
HP:0009830	Peripheral neuropathy	7456	WIPF1	ORPHA:906
HP:0009830	Peripheral neuropathy	5189	PEX1	ORPHA:3220
HP:0009830	Peripheral neuropathy	5190	PEX6	ORPHA:3220
HP:0009830	Peripheral neuropathy	146057	TTBK2	ORPHA:98767
HP:0009830	Peripheral neuropathy	1493	CTLA4	ORPHA:900
HP:0009830	Peripheral neuropathy	1493	CTLA4	ORPHA:3162
HP:0009830	Peripheral neuropathy	3115	HLA-DPB1	ORPHA:900
HP:0009830	Peripheral neuropathy	5657	PRTN3	ORPHA:900
HP:0009830	Peripheral neuropathy	3113	HLA-DPA1	ORPHA:900
HP:0009830	Peripheral neuropathy	493856	CISD2	ORPHA:3463
HP:0009830	Peripheral neuropathy	7466	WFS1	ORPHA:3463
HP:0009830	Peripheral neuropathy	8659	ALDH4A1	ORPHA:79101
HP:0009830	Peripheral neuropathy	84277	DNAJC30	ORPHA:104
HP:0009830	Peripheral neuropathy	4535	MT-ND1	ORPHA:104
HP:0009830	Peripheral neuropathy	4535	MT-ND1	ORPHA:550
HP:0009830	Peripheral neuropathy	4536	MT-ND2	ORPHA:104
HP:0009830	Peripheral neuropathy	4538	MT-ND4	ORPHA:104
HP:0009830	Peripheral neuropathy	4538	MT-ND4	ORPHA:550
HP:0009830	Peripheral neuropathy	4720	NDUFS2	ORPHA:104
HP:0009830	Peripheral neuropathy	4512	MT-CO1	ORPHA:104
HP:0009830	Peripheral neuropathy	4512	MT-CO1	ORPHA:550
HP:0009830	Peripheral neuropathy	4514	MT-CO3	ORPHA:104
HP:0009830	Peripheral neuropathy	4514	MT-CO3	ORPHA:550
HP:0009830	Peripheral neuropathy	4519	MT-CYB	ORPHA:104
HP:0009830	Peripheral neuropathy	4540	MT-ND5	ORPHA:104
HP:0009830	Peripheral neuropathy	4540	MT-ND5	ORPHA:550
HP:0009830	Peripheral neuropathy	4541	MT-ND6	ORPHA:104
HP:0009830	Peripheral neuropathy	4541	MT-ND6	ORPHA:550
HP:0009830	Peripheral neuropathy	4539	MT-ND4L	ORPHA:104
HP:0009830	Peripheral neuropathy	25894	PLEKHG4	ORPHA:98765
HP:0009830	Peripheral neuropathy	11128	POLR3A	ORPHA:447896
HP:0009830	Peripheral neuropathy	11128	POLR3A	OMIM:607694
HP:0009830	Peripheral neuropathy	4247	MGAT2	ORPHA:79329
HP:0009830	Peripheral neuropathy	4669	NAGLU	OMIM:616491
HP:0009830	Peripheral neuropathy	23095	KIF1B	OMIM:118210
HP:0009830	Peripheral neuropathy	83636	C19orf12	OMIM:615043
HP:0009830	Peripheral neuropathy	6288	SAA1	ORPHA:85445
HP:0009830	Peripheral neuropathy	9409	PEX16	OMIM:614877
HP:0009830	Peripheral neuropathy	3708	ITPR1	OMIM:117360
HP:0009830	Peripheral neuropathy	3708	ITPR1	OMIM:206700
HP:0009830	Peripheral neuropathy	25828	TXN2	OMIM:616811
HP:0009830	Peripheral neuropathy	2729	GCLC	ORPHA:33574
HP:0009830	Peripheral neuropathy	3662	IRF4	ORPHA:3452
HP:0009830	Peripheral neuropathy	6310	ATXN1	ORPHA:98755
HP:0009830	Peripheral neuropathy	6310	ATXN1	OMIM:164400
HP:0009830	Peripheral neuropathy	5373	PMM2	ORPHA:79318
HP:0009830	Peripheral neuropathy	11117	EMILIN1	OMIM:620080
HP:0009830	Peripheral neuropathy	4677	NARS1	OMIM:619091
HP:0009830	Peripheral neuropathy	4677	NARS1	OMIM:619092
HP:0009830	Peripheral neuropathy	9342	SNAP29	OMIM:609528
HP:0009830	Peripheral neuropathy	9342	SNAP29	ORPHA:66631
HP:0009830	Peripheral neuropathy	2318	FLNC	ORPHA:171445
HP:0009830	Peripheral neuropathy	4359	MPZ	OMIM:118200
HP:0009830	Peripheral neuropathy	6709	SPTAN1	OMIM:620528
HP:0009830	Peripheral neuropathy	654	BMP6	ORPHA:465508
HP:0009830	Peripheral neuropathy	3077	HFE	ORPHA:465508
HP:0009830	Peripheral neuropathy	404672	GTF2H5	ORPHA:33364
HP:0009830	Peripheral neuropathy	833	CARS1	ORPHA:33364
HP:0009830	Peripheral neuropathy	2068	ERCC2	ORPHA:33364
HP:0009830	Peripheral neuropathy	2068	ERCC2	ORPHA:910
HP:0009830	Peripheral neuropathy	2068	ERCC2	ORPHA:1466
HP:0009830	Peripheral neuropathy	7737	RNF113A	ORPHA:33364
HP:0009830	Peripheral neuropathy	136647	MPLKIP	ORPHA:33364
HP:0009830	Peripheral neuropathy	6897	TARS1	ORPHA:33364
HP:0009830	Peripheral neuropathy	2071	ERCC3	ORPHA:33364
HP:0009830	Peripheral neuropathy	2071	ERCC3	ORPHA:910
HP:0009830	Peripheral neuropathy	2961	GTF2E2	ORPHA:33364
HP:0009830	Peripheral neuropathy	3954	LETM1	OMIM:620089
HP:0009830	Peripheral neuropathy	8813	DPM1	ORPHA:79322
HP:0009830	Peripheral neuropathy	84295	PHF6	ORPHA:127
HP:0009830	Peripheral neuropathy	3098	HK1	OMIM:605285
HP:0009830	Peripheral neuropathy	4615	MYD88	ORPHA:33226
HP:0009830	Peripheral neuropathy	65125	WNK1	OMIM:201300
HP:0009830	Peripheral neuropathy	54463	RETREG1	OMIM:201300
HP:0009830	Peripheral neuropathy	6335	SCN9A	OMIM:201300
HP:0009830	Peripheral neuropathy	6335	SCN9A	ORPHA:90026
HP:0009830	Peripheral neuropathy	547	KIF1A	OMIM:201300
HP:0009830	Peripheral neuropathy	547	KIF1A	OMIM:614213
HP:0009830	Peripheral neuropathy	1337	COX6A1	OMIM:616039
HP:0009830	Peripheral neuropathy	23590	PDSS1	OMIM:614651
HP:0009830	Peripheral neuropathy	4069	LYZ	OMIM:620658
HP:0009830	Peripheral neuropathy	5830	PEX5	OMIM:616716
HP:0009830	Peripheral neuropathy	4976	OPA1	OMIM:210000
HP:0009830	Peripheral neuropathy	4976	OPA1	OMIM:125250
HP:0009830	Peripheral neuropathy	4976	OPA1	ORPHA:1215
HP:0009830	Peripheral neuropathy	7507	XPA	ORPHA:910
HP:0009830	Peripheral neuropathy	7508	XPC	ORPHA:910
HP:0009830	Peripheral neuropathy	1643	DDB2	ORPHA:910
HP:0009830	Peripheral neuropathy	2072	ERCC4	ORPHA:910
HP:0009830	Peripheral neuropathy	2073	ERCC5	ORPHA:910
HP:0009830	Peripheral neuropathy	2073	ERCC5	ORPHA:1466
HP:0009830	Peripheral neuropathy	55703	POLR3B	OMIM:607694
HP:0009830	Peripheral neuropathy	2639	GCDH	ORPHA:25
HP:0009830	Peripheral neuropathy	291	SLC25A4	ORPHA:254892
HP:0009830	Peripheral neuropathy	56652	TWNK	ORPHA:254892
HP:0009830	Peripheral neuropathy	11232	POLG2	ORPHA:254892
HP:0009830	Peripheral neuropathy	51062	ATL1	ORPHA:100984
HP:0009830	Peripheral neuropathy	51062	ATL1	OMIM:613708
HP:0009830	Peripheral neuropathy	4558	MT-TF	ORPHA:550
HP:0009830	Peripheral neuropathy	4572	MT-TQ	ORPHA:550
HP:0009830	Peripheral neuropathy	4513	MT-CO2	ORPHA:550
HP:0009830	Peripheral neuropathy	4578	MT-TW	ORPHA:550
HP:0009830	Peripheral neuropathy	4567	MT-TL1	ORPHA:550
HP:0009830	Peripheral neuropathy	4574	MT-TS1	ORPHA:550
HP:0009830	Peripheral neuropathy	4575	MT-TS2	ORPHA:550
HP:0009830	Peripheral neuropathy	4564	MT-TH	ORPHA:550
HP:0009830	Peripheral neuropathy	7167	TPI1	OMIM:615512
HP:0009830	Peripheral neuropathy	3032	HADHB	OMIM:620300
HP:0009830	Peripheral neuropathy	3032	HADHB	ORPHA:746
HP:0009830	Peripheral neuropathy	4803	NGF	OMIM:608654
HP:0009830	Peripheral neuropathy	1776	DNASE1L3	ORPHA:36412
HP:0009830	Peripheral neuropathy	5551	PRF1	ORPHA:540
HP:0009830	Peripheral neuropathy	8676	STX11	ORPHA:540
HP:0009830	Peripheral neuropathy	201294	UNC13D	ORPHA:540
HP:0009830	Peripheral neuropathy	6813	STXBP2	ORPHA:540
HP:0009830	Peripheral neuropathy	1959	EGR2	OMIM:607678
HP:0009830	Peripheral neuropathy	1959	EGR2	OMIM:605253
HP:0009830	Peripheral neuropathy	6315	ATXN8OS	OMIM:608768
HP:0009830	Peripheral neuropathy	724066	ATXN8	OMIM:608768
HP:0009830	Peripheral neuropathy	2581	GALC	ORPHA:206443
HP:0009830	Peripheral neuropathy	2581	GALC	ORPHA:206448
HP:0009830	Peripheral neuropathy	2581	GALC	ORPHA:206436
HP:0009830	Peripheral neuropathy	7084	TK2	ORPHA:254886
HP:0009830	Peripheral neuropathy	113179	ADAT3	ORPHA:363528
HP:0009830	Peripheral neuropathy	3767	KCNJ11	ORPHA:79134
HP:0009830	Peripheral neuropathy	79731	NARS2	ORPHA:79134
HP:0009830	Peripheral neuropathy	6833	ABCC8	ORPHA:79134
HP:0009830	Peripheral neuropathy	10342	TFG	ORPHA:431329
HP:0009830	Peripheral neuropathy	10342	TFG	OMIM:604484
HP:0009830	Peripheral neuropathy	3315	HSPB1	OMIM:608634
HP:0009830	Peripheral neuropathy	6609	SMPD1	ORPHA:77293
HP:0009830	Peripheral neuropathy	11280	SCN11A	ORPHA:90026
HP:0009830	Peripheral neuropathy	6336	SCN10A	ORPHA:90026
HP:0009830	Peripheral neuropathy	2067	ERCC1	ORPHA:1466
HP:0009830	Peripheral neuropathy	4358	MPV17	OMIM:256810
HP:0009830	Peripheral neuropathy	6663	SOX10	ORPHA:163746
HP:0009830	Peripheral neuropathy	3035	HARS1	OMIM:616625
HP:0009830	Peripheral neuropathy	4566	MT-TK	ORPHA:1349
HP:0009830	Peripheral neuropathy	2632	GBE1	ORPHA:206583
HP:0009830	Peripheral neuropathy	5611	DNAJC3	OMIM:616192
HP:0009830	Peripheral neuropathy	51300	TIMMDC1	OMIM:618251
HP:0009830	Peripheral neuropathy	2705	GJB1	OMIM:302800
HP:0009830	Peripheral neuropathy	64423	INF2	OMIM:614455
HP:0009830	Peripheral neuropathy	5981	RFC1	OMIM:614575
HP:0009830	Peripheral neuropathy	2065	ERBB3	OMIM:243180
HP:0009830	Peripheral neuropathy	4287	ATXN3	ORPHA:276238
HP:0009830	Peripheral neuropathy	4287	ATXN3	ORPHA:276241
HP:0009830	Peripheral neuropathy	64374	SIL1	ORPHA:559
HP:0009830	Peripheral neuropathy	56244	BTNL2	ORPHA:797
HP:0009830	Peripheral neuropathy	79736	TEFM	OMIM:620451
HP:0009830	Peripheral neuropathy	4771	NF2	OMIM:101000
HP:0009830	Peripheral neuropathy	23476	BRD4	ORPHA:199
HP:0009830	Peripheral neuropathy	9126	SMC3	ORPHA:199
HP:0009830	Peripheral neuropathy	8243	SMC1A	ORPHA:199
HP:0009830	Peripheral neuropathy	6878	TAF6	ORPHA:199
HP:0009830	Peripheral neuropathy	25836	NIPBL	ORPHA:199
HP:0009830	Peripheral neuropathy	55869	HDAC8	ORPHA:199
HP:0009830	Peripheral neuropathy	5885	RAD21	ORPHA:199
HP:0009830	Peripheral neuropathy	9997	SCO2	OMIM:604377
HP:0009830	Peripheral neuropathy	79784	MYH14	ORPHA:397744
HP:0009830	Peripheral neuropathy	79784	MYH14	OMIM:614369
HP:0009830	Peripheral neuropathy	28962	OSTM1	ORPHA:85179
HP:0009830	Peripheral neuropathy	8988	HSPB3	OMIM:613376
HP:0009830	Peripheral neuropathy	22948	CCT5	ORPHA:139578
HP:0009830	Peripheral neuropathy	189	AGXT	OMIM:259900
HP:0009830	Peripheral neuropathy	1778	DYNC1H1	OMIM:614228
HP:0009830	Peripheral neuropathy	3030	HADHA	ORPHA:746
HP:0009830	Peripheral neuropathy	3030	HADHA	OMIM:609015
HP:0009830	Peripheral neuropathy	3030	HADHA	ORPHA:5
HP:0009830	Peripheral neuropathy	10128	LRPPRC	ORPHA:70472
HP:0009830	Peripheral neuropathy	526	ATP6V1B2	ORPHA:79500
HP:0009830	Peripheral neuropathy	57465	TBC1D24	ORPHA:79500
HP:0009830	Peripheral neuropathy	100147744	RNU7-1	OMIM:619487
HP:0009830	Peripheral neuropathy	57570	TRMT5	OMIM:616539
HP:0009830	Peripheral neuropathy	3033	HADH	ORPHA:71212
HP:0009830	Peripheral neuropathy	9499	MYOT	ORPHA:98911
HP:0009830	Peripheral neuropathy	3710	ITPR3	OMIM:620111
HP:0009830	Peripheral neuropathy	11155	LDB3	ORPHA:98912
HP:0009830	Peripheral neuropathy	2617	GARS1	OMIM:600794
HP:0009830	Peripheral neuropathy	5264	PHYH	ORPHA:773
HP:0009830	Peripheral neuropathy	5191	PEX7	ORPHA:773
HP:0009830	Peripheral neuropathy	940	CD28	ORPHA:3162
HP:0009830	Peripheral neuropathy	7133	TNFRSF1B	ORPHA:3162
HP:0009830	Peripheral neuropathy	210	ALAD	ORPHA:100924
HP:0009830	Peripheral neuropathy	4141	MARS1	ORPHA:401835
HP:0009830	Peripheral neuropathy	4668	NAGA	ORPHA:79280
HP:0009830	Peripheral neuropathy	4668	NAGA	ORPHA:79279
HP:0009830	Peripheral neuropathy	55005	RMND1	OMIM:614922
HP:0009830	Peripheral neuropathy	3643	INSR	ORPHA:769
HP:0009830	Peripheral neuropathy	57410	SCYL1	ORPHA:466794
HP:0009830	Peripheral neuropathy	1371	CPOX	OMIM:121300
HP:0009830	Peripheral neuropathy	22930	RAB3GAP1	ORPHA:2510
HP:0009830	Peripheral neuropathy	25782	RAB3GAP2	ORPHA:2510
HP:0009830	Peripheral neuropathy	22931	RAB18	ORPHA:2510
HP:0009830	Peripheral neuropathy	128637	TBC1D20	ORPHA:2510
HP:0009830	Peripheral neuropathy	51663	ZFR	ORPHA:401840
HP:0009830	Peripheral neuropathy	1678	TIMM8A	ORPHA:52368
HP:0009830	Peripheral neuropathy	91574	MTRFR	ORPHA:320375
HP:0009830	Peripheral neuropathy	56947	MFF	OMIM:617086
HP:0009830	Peripheral neuropathy	8884	SLC5A6	OMIM:618973
HP:0009830	Peripheral neuropathy	55331	ACER3	OMIM:617762
HP:0009830	Peripheral neuropathy	8803	SUCLA2	OMIM:612073
HP:0009830	Peripheral neuropathy	4747	NEFL	OMIM:617882
HP:0009830	Peripheral neuropathy	367	AR	OMIM:313200
HP:0009830	Peripheral neuropathy	6342	SCP2	OMIM:613724
HP:0009830	Peripheral neuropathy	3145	HMBS	ORPHA:79276
HP:0009830	Peripheral neuropathy	65055	REEP1	OMIM:620011
HP:0009830	Peripheral neuropathy	60481	ELOVL5	ORPHA:423296
HP:0009830	Peripheral neuropathy	9990	SLC12A6	OMIM:218000
HP:0009830	Peripheral neuropathy	760	CA2	ORPHA:2785
HP:0009830	Peripheral neuropathy	3423	IDS	ORPHA:217085
HP:0009830	Peripheral neuropathy	3423	IDS	ORPHA:217093
HP:0009830	Peripheral neuropathy	2778	GNAS	ORPHA:79443
HP:0009830	Peripheral neuropathy	2778	GNAS	ORPHA:79444
HP:0009830	Peripheral neuropathy	83550	GPR101	ORPHA:963
HP:0009830	Peripheral neuropathy	9049	AIP	ORPHA:963
HP:0009830	Peripheral neuropathy	411	ARSB	OMIM:253200
HP:0009830	Peripheral neuropathy	3425	IDUA	OMIM:607014
HP:0009830	Peripheral neuropathy	3425	IDUA	OMIM:607016
HP:0007089	Facial-lingual fasciculations	9997	SCO2	OMIM:604377
HP:0007089	Facial-lingual fasciculations	23258	DENND5A	OMIM:617281
HP:0007089	Facial-lingual fasciculations	4287	ATXN3	ORPHA:276238
HP:0007089	Facial-lingual fasciculations	4287	ATXN3	OMIM:109150
HP:0007089	Facial-lingual fasciculations	4287	ATXN3	ORPHA:276244
HP:0007089	Facial-lingual fasciculations	4287	ATXN3	ORPHA:276241
HP:0001338	Partial agenesis of the corpus callosum	1718	DHCR24	OMIM:602398
HP:0001338	Partial agenesis of the corpus callosum	2615	LRRC32	OMIM:619074
HP:0001338	Partial agenesis of the corpus callosum	10128	LRPPRC	OMIM:220111
HP:0001338	Partial agenesis of the corpus callosum	29899	GPSM2	OMIM:604213
HP:0001338	Partial agenesis of the corpus callosum	57498	KIDINS220	OMIM:617296
HP:0001338	Partial agenesis of the corpus callosum	10785	WDR4	OMIM:618346
HP:0001338	Partial agenesis of the corpus callosum	1182	CLCN3	OMIM:619512
HP:0001338	Partial agenesis of the corpus callosum	1182	CLCN3	OMIM:619517
HP:0001338	Partial agenesis of the corpus callosum	28962	OSTM1	ORPHA:85179
HP:0001338	Partial agenesis of the corpus callosum	26005	C2CD3	ORPHA:434179
HP:0001338	Partial agenesis of the corpus callosum	26005	C2CD3	OMIM:615948
HP:0001338	Partial agenesis of the corpus callosum	10765	KDM5B	OMIM:618109
HP:0001338	Partial agenesis of the corpus callosum	6938	TCF12	OMIM:615314
HP:0001338	Partial agenesis of the corpus callosum	100151683	RNU4ATAC	OMIM:210710
HP:0001338	Partial agenesis of the corpus callosum	6091	ROBO1	OMIM:620305
HP:0001338	Partial agenesis of the corpus callosum	84320	ACBD6	OMIM:620785
HP:0001338	Partial agenesis of the corpus callosum	5727	PTCH1	OMIM:610828
HP:0001338	Partial agenesis of the corpus callosum	26576	SRPK3	OMIM:301134
HP:0001338	Partial agenesis of the corpus callosum	2736	GLI2	OMIM:610829
HP:0001338	Partial agenesis of the corpus callosum	11198	SUPT16H	OMIM:619480
HP:0001338	Partial agenesis of the corpus callosum	4036	LRP2	OMIM:222448
HP:0001338	Partial agenesis of the corpus callosum	136647	MPLKIP	OMIM:234050
HP:0001338	Partial agenesis of the corpus callosum	136647	MPLKIP	ORPHA:33364
HP:0001338	Partial agenesis of the corpus callosum	10733	PLK4	OMIM:616171
HP:0001338	Partial agenesis of the corpus callosum	8050	PDHX	OMIM:245349
HP:0001338	Partial agenesis of the corpus callosum	51112	TRAPPC12	ORPHA:500144
HP:0001338	Partial agenesis of the corpus callosum	1062	CENPE	OMIM:616051
HP:0001338	Partial agenesis of the corpus callosum	10300	KATNB1	OMIM:616212
HP:0001338	Partial agenesis of the corpus callosum	55755	CDK5RAP2	OMIM:604804
HP:0001338	Partial agenesis of the corpus callosum	1654	DDX3X	ORPHA:3338
HP:0001338	Partial agenesis of the corpus callosum	347733	TUBB2B	OMIM:610031
HP:0001338	Partial agenesis of the corpus callosum	4190	MDH1	OMIM:618959
HP:0001338	Partial agenesis of the corpus callosum	118924	FRA10AC1	OMIM:620113
HP:0001338	Partial agenesis of the corpus callosum	9968	MED12	OMIM:305450
HP:0001338	Partial agenesis of the corpus callosum	60386	SLC25A19	OMIM:607196
HP:0001338	Partial agenesis of the corpus callosum	55691	FRMD4A	OMIM:616819
HP:0001338	Partial agenesis of the corpus callosum	139285	AMER1	OMIM:300373
HP:0001338	Partial agenesis of the corpus callosum	7846	TUBA1A	ORPHA:171680
HP:0001338	Partial agenesis of the corpus callosum	7143	TNR	OMIM:619653
HP:0001338	Partial agenesis of the corpus callosum	23007	PLCH1	OMIM:619895
HP:0001338	Partial agenesis of the corpus callosum	4123	MAN2C1	OMIM:619775
HP:0001338	Partial agenesis of the corpus callosum	57492	ARID1B	OMIM:135900
HP:0001338	Partial agenesis of the corpus callosum	64324	NSD1	OMIM:117550
HP:0001338	Partial agenesis of the corpus callosum	203068	TUBB	OMIM:615771
HP:0001338	Partial agenesis of the corpus callosum	729920	CRPPA	OMIM:614643
HP:0001338	Partial agenesis of the corpus callosum	10381	TUBB3	ORPHA:300570
HP:0001338	Partial agenesis of the corpus callosum	54916	TMEM260	OMIM:617478
HP:0001338	Partial agenesis of the corpus callosum	93627	TBCK	OMIM:616900
HP:0001338	Partial agenesis of the corpus callosum	404672	GTF2H5	ORPHA:33364
HP:0001338	Partial agenesis of the corpus callosum	833	CARS1	ORPHA:33364
HP:0001338	Partial agenesis of the corpus callosum	2068	ERCC2	ORPHA:33364
HP:0001338	Partial agenesis of the corpus callosum	7737	RNF113A	ORPHA:33364
HP:0001338	Partial agenesis of the corpus callosum	6897	TARS1	ORPHA:33364
HP:0001338	Partial agenesis of the corpus callosum	16	AARS1	ORPHA:33364
HP:0001338	Partial agenesis of the corpus callosum	2071	ERCC3	ORPHA:33364
HP:0001338	Partial agenesis of the corpus callosum	2961	GTF2E2	ORPHA:33364
HP:0001338	Partial agenesis of the corpus callosum	9361	LONP1	ORPHA:79243
HP:0001338	Partial agenesis of the corpus callosum	5160	PDHA1	ORPHA:79243
HP:0001338	Partial agenesis of the corpus callosum	1717	DHCR7	OMIM:270400
HP:0001338	Partial agenesis of the corpus callosum	3897	L1CAM	OMIM:304100
HP:0001338	Partial agenesis of the corpus callosum	64432	MRPS25	OMIM:619025
HP:0001338	Partial agenesis of the corpus callosum	10524	KAT5	OMIM:619103
HP:0001338	Partial agenesis of the corpus callosum	51362	CDC40	OMIM:619302
HP:0001338	Partial agenesis of the corpus callosum	283450	HECTD4	OMIM:620250
HP:0002389	Cavum septum pellucidum	2615	LRRC32	OMIM:619074
HP:0002389	Cavum septum pellucidum	54941	RNF125	OMIM:616260
HP:0002389	Cavum septum pellucidum	64324	NSD1	OMIM:117550
HP:0002389	Cavum septum pellucidum	64324	NSD1	ORPHA:821
HP:0002389	Cavum septum pellucidum	4593	MUSK	OMIM:208150
HP:0002389	Cavum septum pellucidum	347733	TUBB2B	ORPHA:300573
HP:0002389	Cavum septum pellucidum	5528	PPP2R5D	ORPHA:457279
HP:0002389	Cavum septum pellucidum	25885	POLR1A	OMIM:616462
HP:0002389	Cavum septum pellucidum	8815	BANF1	OMIM:614008
HP:0002389	Cavum septum pellucidum	81857	MED25	ORPHA:464738
HP:0002389	Cavum septum pellucidum	81857	MED25	OMIM:616449
HP:0002389	Cavum septum pellucidum	3703	STT3A	OMIM:619714
HP:0002389	Cavum septum pellucidum	253738	EBF3	ORPHA:96148
HP:0002389	Cavum septum pellucidum	5048	PAFAH1B1	ORPHA:95232
HP:0002389	Cavum septum pellucidum	9939	RBM8A	OMIM:274000
HP:0002389	Cavum septum pellucidum	7080	NKX2-1	ORPHA:209905
HP:0002389	Cavum septum pellucidum	79087	ALG12	ORPHA:79324
HP:0002389	Cavum septum pellucidum	10297	APC2	ORPHA:821
HP:0002389	Cavum septum pellucidum	7703	PCGF2	OMIM:618371
HP:0002389	Cavum septum pellucidum	129285	PPP1R21	OMIM:619383
HP:0002389	Cavum septum pellucidum	5290	PIK3CA	OMIM:602501
HP:0002389	Cavum septum pellucidum	55181	SMG8	OMIM:619268
HP:0002389	Cavum septum pellucidum	5594	MAPK1	OMIM:619087
HP:0002389	Cavum septum pellucidum	64121	RRAGC	OMIM:620609
HP:0002389	Cavum septum pellucidum	8550	MAPKAPK5	OMIM:619869
HP:0002389	Cavum septum pellucidum	55969	RAB5IF	OMIM:616994
HP:0002389	Cavum septum pellucidum	55690	PACS1	ORPHA:329224
HP:0002389	Cavum septum pellucidum	55690	PACS1	OMIM:615009
HP:0002389	Cavum septum pellucidum	5908	RAP1B	OMIM:620654
HP:0002389	Cavum septum pellucidum	4286	MITF	OMIM:617306
HP:0002389	Cavum septum pellucidum	7468	NSD2	OMIM:194190
HP:0002389	Cavum septum pellucidum	10815	CPLX1	OMIM:194190
HP:0002389	Cavum septum pellucidum	1487	CTBP1	OMIM:194190
HP:0002389	Cavum septum pellucidum	53834	FGFRL1	OMIM:194190
HP:0002389	Cavum septum pellucidum	3954	LETM1	OMIM:194190
HP:0002389	Cavum septum pellucidum	26834	RNU4-2	OMIM:620851
HP:0002389	Cavum septum pellucidum	57688	ZSWIM6	OMIM:603671
HP:0003380	Decreased number of peripheral myelinated nerve fibers	54332	GDAP1	OMIM:607706
HP:0003380	Decreased number of peripheral myelinated nerve fibers	54332	GDAP1	OMIM:607831
HP:0003380	Decreased number of peripheral myelinated nerve fibers	54332	GDAP1	OMIM:214400
HP:0003380	Decreased number of peripheral myelinated nerve fibers	4359	MPZ	OMIM:618184
HP:0003380	Decreased number of peripheral myelinated nerve fibers	4359	MPZ	OMIM:118200
HP:0003380	Decreased number of peripheral myelinated nerve fibers	4359	MPZ	OMIM:180800
HP:0003380	Decreased number of peripheral myelinated nerve fibers	4359	MPZ	OMIM:607677
HP:0003380	Decreased number of peripheral myelinated nerve fibers	4359	MPZ	OMIM:145900
HP:0003380	Decreased number of peripheral myelinated nerve fibers	4000	LMNA	OMIM:605588
HP:0003380	Decreased number of peripheral myelinated nerve fibers	4000	LMNA	ORPHA:98856
HP:0003380	Decreased number of peripheral myelinated nerve fibers	23769	FLRT1	ORPHA:320406
HP:0003380	Decreased number of peripheral myelinated nerve fibers	64837	KLC2	ORPHA:320406
HP:0003380	Decreased number of peripheral myelinated nerve fibers	91574	MTRFR	ORPHA:254930
HP:0003380	Decreased number of peripheral myelinated nerve fibers	23321	TRIM2	OMIM:615490
HP:0003380	Decreased number of peripheral myelinated nerve fibers	9927	MFN2	OMIM:609260
HP:0003380	Decreased number of peripheral myelinated nerve fibers	4358	MPV17	OMIM:256810
HP:0003380	Decreased number of peripheral myelinated nerve fibers	5376	PMP22	OMIM:118220
HP:0003380	Decreased number of peripheral myelinated nerve fibers	5376	PMP22	OMIM:180800
HP:0003380	Decreased number of peripheral myelinated nerve fibers	5376	PMP22	OMIM:145900
HP:0003380	Decreased number of peripheral myelinated nerve fibers	50846	DHH	OMIM:607080
HP:0003380	Decreased number of peripheral myelinated nerve fibers	7443	VRK1	OMIM:620542
HP:0003380	Decreased number of peripheral myelinated nerve fibers	8139	GAN	OMIM:256850
HP:0003380	Decreased number of peripheral myelinated nerve fibers	7879	RAB7A	OMIM:600882
HP:0003380	Decreased number of peripheral myelinated nerve fibers	10743	RAI1	ORPHA:477817
HP:0003380	Decreased number of peripheral myelinated nerve fibers	87178	PNPT1	OMIM:608703
HP:0003380	Decreased number of peripheral myelinated nerve fibers	56704	JPH1	OMIM:607831
HP:0003380	Decreased number of peripheral myelinated nerve fibers	4747	NEFL	OMIM:607734
HP:0003380	Decreased number of peripheral myelinated nerve fibers	65125	WNK1	OMIM:201300
HP:0003380	Decreased number of peripheral myelinated nerve fibers	54463	RETREG1	OMIM:201300
HP:0003380	Decreased number of peripheral myelinated nerve fibers	6335	SCN9A	OMIM:201300
HP:0003380	Decreased number of peripheral myelinated nerve fibers	547	KIF1A	OMIM:201300
HP:0003380	Decreased number of peripheral myelinated nerve fibers	23095	KIF1B	OMIM:118210
HP:0003380	Decreased number of peripheral myelinated nerve fibers	2705	GJB1	OMIM:302800
HP:0003380	Decreased number of peripheral myelinated nerve fibers	57716	PRX	OMIM:614895
HP:0003380	Decreased number of peripheral myelinated nerve fibers	57716	PRX	OMIM:145900
HP:0003380	Decreased number of peripheral myelinated nerve fibers	55775	TDP1	OMIM:607250
HP:0003380	Decreased number of peripheral myelinated nerve fibers	23230	VPS13A	ORPHA:2388
HP:0003380	Decreased number of peripheral myelinated nerve fibers	79628	SH3TC2	ORPHA:99949
HP:0003380	Decreased number of peripheral myelinated nerve fibers	1786	DNMT1	OMIM:614116
HP:0003380	Decreased number of peripheral myelinated nerve fibers	10342	TFG	OMIM:604484
HP:0003380	Decreased number of peripheral myelinated nerve fibers	1959	EGR2	OMIM:145900
HP:0003380	Decreased number of peripheral myelinated nerve fibers	81846	SBF2	OMIM:604563
HP:0003380	Decreased number of peripheral myelinated nerve fibers	1785	DNM2	OMIM:606482
HP:0003380	Decreased number of peripheral myelinated nerve fibers	121512	FGD4	OMIM:609311
HP:0003380	Decreased number of peripheral myelinated nerve fibers	80208	SPG11	OMIM:604360
HP:0003380	Decreased number of peripheral myelinated nerve fibers	5428	POLG	ORPHA:298
HP:0003380	Decreased number of peripheral myelinated nerve fibers	1890	TYMP	ORPHA:298
HP:0003380	Decreased number of peripheral myelinated nerve fibers	3980	LIG3	ORPHA:298
HP:0003380	Decreased number of peripheral myelinated nerve fibers	50484	RRM2B	ORPHA:298
HP:0003380	Decreased number of peripheral myelinated nerve fibers	8518	ELP1	OMIM:223900
HP:0003380	Decreased number of peripheral myelinated nerve fibers	10558	SPTLC1	OMIM:162400
HP:0003380	Decreased number of peripheral myelinated nerve fibers	4311	MME	ORPHA:497764
HP:0003380	Decreased number of peripheral myelinated nerve fibers	57449	PLEKHG5	OMIM:615376
HP:0003380	Decreased number of peripheral myelinated nerve fibers	54840	APTX	OMIM:208920
HP:0003380	Decreased number of peripheral myelinated nerve fibers	56652	TWNK	OMIM:271245
HP:0003380	Decreased number of peripheral myelinated nerve fibers	26353	HSPB8	OMIM:608673
HP:0003380	Decreased number of peripheral myelinated nerve fibers	26278	SACS	OMIM:270550
HP:0003380	Decreased number of peripheral myelinated nerve fibers	3098	HK1	OMIM:605285
HP:0003380	Decreased number of peripheral myelinated nerve fibers	4803	NGF	ORPHA:64752
HP:0003380	Decreased number of peripheral myelinated nerve fibers	4914	NTRK1	ORPHA:64752
HP:0003380	Decreased number of peripheral myelinated nerve fibers	4914	NTRK1	OMIM:256800
HP:0012390	Anal fissure	79415	CYBC1	OMIM:618935
HP:0012390	Anal fissure	4312	MMP1	ORPHA:79408
HP:0012390	Anal fissure	1294	COL7A1	ORPHA:79408
HP:0012390	Anal fissure	1294	COL7A1	ORPHA:89842
HP:0012390	Anal fissure	6868	ADAM17	ORPHA:294023
HP:0012390	Anal fissure	1956	EGFR	ORPHA:294023
HP:0012391	Hyporeflexia of upper limbs	6709	SPTAN1	OMIM:620528
HP:0012391	Hyporeflexia of upper limbs	54332	GDAP1	ORPHA:99948
HP:0012391	Hyporeflexia of upper limbs	5376	PMP22	ORPHA:90658
HP:0012391	Hyporeflexia of upper limbs	51	ACOX1	OMIM:618960
HP:0012391	Hyporeflexia of upper limbs	6261	RYR1	ORPHA:178145
HP:0012391	Hyporeflexia of upper limbs	3315	HSPB1	OMIM:606595
HP:0012391	Hyporeflexia of upper limbs	4556	MT-TE	ORPHA:2596
HP:0012391	Hyporeflexia of upper limbs	9711	RUBCN	OMIM:615705
HP:0012391	Hyporeflexia of upper limbs	10159	ATP6AP2	ORPHA:93952
HP:0012391	Hyporeflexia of upper limbs	8869	ST3GAL5	OMIM:609056
HP:0012393	Allergy	10999	SLC27A4	OMIM:608649
HP:0012393	Allergy	1369	CPN1	OMIM:212070
HP:0012393	Allergy	23387	SIK3	OMIM:618162
HP:0012393	Allergy	81704	DOCK8	OMIM:243700
HP:0012393	Allergy	146206	CARMIL2	OMIM:618131
HP:0012393	Allergy	11005	SPINK5	OMIM:256500
HP:0012393	Allergy	1041	CDSN	ORPHA:90368
HP:0012393	Allergy	121391	KRT74	ORPHA:90368
HP:0012393	Allergy	5238	PGM3	ORPHA:443811
HP:0012393	Allergy	5238	PGM3	OMIM:615816
HP:0012393	Allergy	84701	COX4I2	OMIM:612714
HP:0012393	Allergy	3514	IGKC	ORPHA:183675
HP:0012393	Allergy	3501	IGHG2	ORPHA:183675
HP:0012393	Allergy	100	ADA	ORPHA:277
HP:0012393	Allergy	9051	PSTPIP1	OMIM:604416
HP:0012393	Allergy	1493	CTLA4	OMIM:616100
HP:0012393	Allergy	6711	SPTBN1	OMIM:619475
HP:0012393	Allergy	50943	FOXP3	ORPHA:37042
HP:0012393	Allergy	4087	SMAD2	OMIM:619656
HP:0012393	Allergy	5336	PLCG2	OMIM:614468
HP:0012393	Allergy	84100	ARL6	OMIM:209900
HP:0012393	Allergy	79140	CCDC28B	OMIM:209900
HP:0012393	Allergy	582	BBS1	OMIM:209900
HP:0012393	Allergy	9333	TGM5	ORPHA:263534
HP:0012393	Allergy	1475	CSTA	ORPHA:263534
HP:0012393	Allergy	1105	CHD1	ORPHA:529965
HP:0012393	Allergy	27086	FOXP1	ORPHA:391372
HP:0012393	Allergy	2475	MTOR	ORPHA:457485
HP:0012393	Allergy	91039	DPP9	OMIM:620331
HP:0012393	Allergy	78987	CRELD1	OMIM:620771
HP:0012393	Allergy	9939	RBM8A	OMIM:274000
HP:0012393	Allergy	54914	FOCAD	OMIM:619991
HP:0012393	Allergy	10526	IPO8	OMIM:619472
HP:0012393	Allergy	55553	SOX6	OMIM:618971
HP:0012393	Allergy	3572	IL6ST	OMIM:619752
HP:0012393	Allergy	3572	IL6ST	OMIM:618523
HP:0012393	Allergy	816	CAMK2B	OMIM:617799
HP:0012393	Allergy	6573	SLC19A1	OMIM:620603
HP:0012393	Allergy	84433	CARD11	OMIM:617638
HP:0012393	Allergy	3716	JAK1	OMIM:618999
HP:0012393	Allergy	1828	DSG1	OMIM:615508
HP:0012393	Allergy	6778	STAT6	OMIM:620532
HP:0012393	Allergy	10060	ABCC9	OMIM:619719
HP:0012397	Aortic atherosclerotic lesion	3949	LDLR	ORPHA:391665
HP:0012397	Aortic atherosclerotic lesion	255738	PCSK9	ORPHA:391665
HP:0012397	Aortic atherosclerotic lesion	26119	LDLRAP1	ORPHA:391665
HP:0012397	Aortic atherosclerotic lesion	338	APOB	ORPHA:391665
HP:0012397	Aortic atherosclerotic lesion	64240	ABCG5	ORPHA:391665
HP:0012397	Aortic atherosclerotic lesion	64241	ABCG8	ORPHA:391665
HP:0012397	Aortic atherosclerotic lesion	4000	LMNA	ORPHA:363618
HP:0012397	Aortic atherosclerotic lesion	348	APOE	ORPHA:412
HP:0012397	Aortic atherosclerotic lesion	1581	CYP7A1	ORPHA:209902
HP:0012398	Peripheral edema	51422	PRKAG2	OMIM:261740
HP:0012398	Peripheral edema	10568	SLC34A2	ORPHA:60025
HP:0012398	Peripheral edema	9326	ZNHIT3	ORPHA:2836
HP:0012398	Peripheral edema	84665	MYPN	ORPHA:75249
HP:0012398	Peripheral edema	2318	FLNC	ORPHA:75249
HP:0012398	Peripheral edema	7139	TNNT2	ORPHA:75249
HP:0012398	Peripheral edema	7137	TNNI3	ORPHA:75249
HP:0012398	Peripheral edema	10112	KIF20A	ORPHA:75249
HP:0012398	Peripheral edema	2492	FSHR	ORPHA:64739
HP:0012398	Peripheral edema	2050	EPHB4	ORPHA:90186
HP:0012398	Peripheral edema	7092	TLL1	ORPHA:99106
HP:0012650	Perisylvian polymicrogyria	23299	BICD2	OMIM:618291
HP:0012650	Perisylvian polymicrogyria	7846	TUBA1A	ORPHA:171680
HP:0012650	Perisylvian polymicrogyria	6638	SNRPN	ORPHA:177904
HP:0012650	Perisylvian polymicrogyria	6638	SNRPN	ORPHA:177901
HP:0012650	Perisylvian polymicrogyria	6638	SNRPN	ORPHA:98754
HP:0012650	Perisylvian polymicrogyria	4692	NDN	ORPHA:177904
HP:0012650	Perisylvian polymicrogyria	4692	NDN	ORPHA:177901
HP:0012650	Perisylvian polymicrogyria	4692	NDN	ORPHA:98754
HP:0012650	Perisylvian polymicrogyria	54551	MAGEL2	ORPHA:177904
HP:0012650	Perisylvian polymicrogyria	54551	MAGEL2	ORPHA:177901
HP:0012650	Perisylvian polymicrogyria	54551	MAGEL2	ORPHA:98754
HP:0012650	Perisylvian polymicrogyria	4948	OCA2	ORPHA:177904
HP:0012650	Perisylvian polymicrogyria	4948	OCA2	ORPHA:177901
HP:0012650	Perisylvian polymicrogyria	4948	OCA2	ORPHA:98754
HP:0012650	Perisylvian polymicrogyria	9289	ADGRG1	OMIM:606854
HP:0012650	Perisylvian polymicrogyria	9289	ADGRG1	OMIM:615752
HP:0012650	Perisylvian polymicrogyria	23162	MAPK8IP3	OMIM:618443
HP:0012650	Perisylvian polymicrogyria	22930	RAB3GAP1	OMIM:600118
HP:0012650	Perisylvian polymicrogyria	5297	PI4KA	OMIM:616531
HP:0012650	Perisylvian polymicrogyria	347733	TUBB2B	ORPHA:300573
HP:0012650	Perisylvian polymicrogyria	10367	MICU1	OMIM:615673
HP:0012650	Perisylvian polymicrogyria	6472	SHMT2	OMIM:619121
HP:0012650	Perisylvian polymicrogyria	28514	DLL1	ORPHA:280195
HP:0012650	Perisylvian polymicrogyria	2253	FGF8	ORPHA:280195
HP:0012650	Perisylvian polymicrogyria	6496	SIX3	ORPHA:280195
HP:0012650	Perisylvian polymicrogyria	7050	TGIF1	ORPHA:280195
HP:0012650	Perisylvian polymicrogyria	4838	NODAL	ORPHA:280195
HP:0012650	Perisylvian polymicrogyria	6469	SHH	ORPHA:280195
HP:0012650	Perisylvian polymicrogyria	7546	ZIC2	ORPHA:280195
HP:0012650	Perisylvian polymicrogyria	6491	STIL	ORPHA:280195
HP:0012650	Perisylvian polymicrogyria	2619	GAS1	ORPHA:280195
HP:0012650	Perisylvian polymicrogyria	84976	DISP1	ORPHA:280195
HP:0012650	Perisylvian polymicrogyria	2736	GLI2	ORPHA:280195
HP:0012650	Perisylvian polymicrogyria	8928	FOXH1	ORPHA:280195
HP:0012650	Perisylvian polymicrogyria	6997	CRIPTO	ORPHA:280195
HP:0012650	Perisylvian polymicrogyria	5727	PTCH1	ORPHA:280195
HP:0012650	Perisylvian polymicrogyria	50937	CDON	ORPHA:280195
HP:0012650	Perisylvian polymicrogyria	477	ATP1A2	OMIM:619605
HP:0012650	Perisylvian polymicrogyria	478	ATP1A3	OMIM:619606
HP:0012650	Perisylvian polymicrogyria	128637	TBC1D20	OMIM:615663
HP:0012650	Perisylvian polymicrogyria	2475	MTOR	OMIM:616638
HP:0012650	Perisylvian polymicrogyria	54187	NANS	OMIM:610442
HP:0012650	Perisylvian polymicrogyria	4613	MYCN	OMIM:620748
HP:0012650	Perisylvian polymicrogyria	27286	SRPX2	ORPHA:98889
HP:0012650	Perisylvian polymicrogyria	27286	SRPX2	OMIM:300643
HP:0007096	Hypoplasia of the optic tract	51112	TRAPPC12	ORPHA:500144
HP:0007097	Cranial nerve motor loss	113278	SLC52A3	OMIM:211530
HP:0007098	Paroxysmal choreoathetosis	112476	PRRT2	OMIM:128200
HP:0007098	Paroxysmal choreoathetosis	112476	PRRT2	OMIM:602066
HP:0007098	Paroxysmal choreoathetosis	25953	PNKD	OMIM:118800
HP:0033204	Triceps hyperreflexia	10060	ABCC9	OMIM:619719
HP:0033205	Biceps hyperreflexia	11160	ERLIN2	OMIM:611225
HP:0033206	Hyperactive Achilles reflex	10908	PNPLA6	OMIM:215470
HP:0033206	Hyperactive Achilles reflex	55129	ANO10	OMIM:613728
HP:0033207	Increased proportion autoreactive unresponsive CD21-/low B cells	5580	PRKCD	OMIM:615559
HP:0033207	Increased proportion autoreactive unresponsive CD21-/low B cells	10125	RASGRP1	OMIM:618534
HP:0033208	Alveolar capillary dysplasia	2294	FOXF1	OMIM:265380
HP:0033208	Alveolar capillary dysplasia	64220	STRA6	OMIM:601186
HP:0033210	Congenital alveolar dysplasia	7490	WT1	OMIM:608978
HP:0033212	Abnormal total iron binding capacity	9493	KIF23	ORPHA:98870
HP:0033212	Abnormal total iron binding capacity	29127	RACGAP1	ORPHA:98870
HP:0033212	Abnormal total iron binding capacity	55532	SLC30A10	OMIM:613280
HP:0033212	Abnormal total iron binding capacity	55532	SLC30A10	ORPHA:309854
HP:0033212	Abnormal total iron binding capacity	5825	ABCD3	OMIM:616278
HP:0033213	Elevated urine suberic acid level	763	CA5A	OMIM:615751
HP:0033213	Elevated urine suberic acid level	23417	MLYCD	OMIM:248360
HP:0033214	Recurrent viral pneumonia	64135	IFIH1	OMIM:619773
HP:0033220	2-ethylhydracylic aciduria	36	ACADSB	OMIM:610006
HP:0033221	Increased CD4:CD8 ratio	7535	ZAP70	OMIM:617006
HP:0033221	Increased CD4:CD8 ratio	1493	CTLA4	ORPHA:3162
HP:0033221	Increased CD4:CD8 ratio	940	CD28	ORPHA:3162
HP:0033221	Increased CD4:CD8 ratio	7133	TNFRSF1B	ORPHA:3162
HP:0033221	Increased CD4:CD8 ratio	51371	POMP	OMIM:618048
HP:0033221	Increased CD4:CD8 ratio	5699	PSMB10	OMIM:620807
HP:0033222	Decreased CD4:CD8 ratio	2624	GATA2	OMIM:614038
HP:0033222	Decreased CD4:CD8 ratio	1503	CTPS1	OMIM:615897
HP:0033222	Decreased CD4:CD8 ratio	841	CASP8	OMIM:607271
HP:0033222	Decreased CD4:CD8 ratio	7454	WAS	OMIM:300299
HP:0033222	Decreased CD4:CD8 ratio	84061	MAGT1	OMIM:300853
HP:0033222	Decreased CD4:CD8 ratio	3559	IL2RA	OMIM:606367
HP:0033222	Decreased CD4:CD8 ratio	9094	UNC119	OMIM:615518
HP:0033222	Decreased CD4:CD8 ratio	8546	AP3B1	OMIM:608233
HP:0033222	Decreased CD4:CD8 ratio	50619	DEF6	OMIM:619573
HP:0033222	Decreased CD4:CD8 ratio	3560	IL2RB	OMIM:618495
HP:0033222	Decreased CD4:CD8 ratio	5994	RFXAP	OMIM:620817
HP:0033229	Brachioradialis areflexia	81570	CLPB	OMIM:616271
HP:0033231	Abnormal glomerular mesangial cellularity	1314	COPA	OMIM:616414
HP:0033231	Abnormal glomerular mesangial cellularity	348	APOE	OMIM:611771
HP:0033231	Abnormal glomerular mesangial cellularity	55505	NOP10	OMIM:620425
HP:0033231	Abnormal glomerular mesangial cellularity	10253	SPRY2	OMIM:616818
HP:0033231	Abnormal glomerular mesangial cellularity	55243	KIRREL1	OMIM:619201
HP:0033231	Abnormal glomerular mesangial cellularity	8879	SGPL1	OMIM:617575
HP:0033231	Abnormal glomerular mesangial cellularity	3913	LAMB2	OMIM:614199
HP:0033231	Abnormal glomerular mesangial cellularity	81494	CFHR5	OMIM:614809
HP:0033232	Abnormal glomerular mesangial matrix morphology	81494	CFHR5	OMIM:614809
HP:0033235	Difficulty descending stairs	2548	GAA	OMIM:232300
HP:0012400	Abnormal circulating aldolase concentration	64374	SIL1	ORPHA:559
HP:0012400	Abnormal circulating aldolase concentration	84892	POMGNT2	ORPHA:899
HP:0012400	Abnormal circulating aldolase concentration	148789	B3GALNT2	ORPHA:899
HP:0012400	Abnormal circulating aldolase concentration	79147	FKRP	ORPHA:899
HP:0012400	Abnormal circulating aldolase concentration	29954	POMT2	ORPHA:899
HP:0012400	Abnormal circulating aldolase concentration	9215	LARGE1	ORPHA:899
HP:0012400	Abnormal circulating aldolase concentration	1282	COL4A1	ORPHA:899
HP:0012400	Abnormal circulating aldolase concentration	729920	CRPPA	ORPHA:899
HP:0012400	Abnormal circulating aldolase concentration	10329	RXYLT1	ORPHA:899
HP:0012400	Abnormal circulating aldolase concentration	1605	DAG1	ORPHA:899
HP:0012400	Abnormal circulating aldolase concentration	11041	B4GAT1	ORPHA:899
HP:0012400	Abnormal circulating aldolase concentration	10585	POMT1	ORPHA:899
HP:0012400	Abnormal circulating aldolase concentration	84197	POMK	ORPHA:899
HP:0012400	Abnormal circulating aldolase concentration	2218	FKTN	ORPHA:899
HP:0012400	Abnormal circulating aldolase concentration	55624	POMGNT1	ORPHA:899
HP:0012400	Abnormal circulating aldolase concentration	5213	PFKM	OMIM:232800
HP:0012400	Abnormal circulating aldolase concentration	128989	TANGO2	OMIM:616878
HP:0012400	Abnormal circulating aldolase concentration	84033	OBSCN	ORPHA:99845
HP:0012400	Abnormal circulating aldolase concentration	23175	LPIN1	ORPHA:99845
HP:0012400	Abnormal circulating aldolase concentration	4512	MT-CO1	ORPHA:99845
HP:0012400	Abnormal circulating aldolase concentration	4514	MT-CO3	ORPHA:99845
HP:0012400	Abnormal circulating aldolase concentration	7040	TGFB1	ORPHA:1328
HP:0012400	Abnormal circulating aldolase concentration	1807	DPYS	OMIM:222748
HP:0012400	Abnormal circulating aldolase concentration	3339	HSPG2	ORPHA:800
HP:0012400	Abnormal circulating aldolase concentration	226	ALDOA	ORPHA:57
HP:0012400	Abnormal circulating aldolase concentration	229	ALDOB	ORPHA:469
HP:0012401	Abnormal urine alpha-ketoglutarate concentration	4967	OGDH	ORPHA:31
HP:0012401	Abnormal urine alpha-ketoglutarate concentration	9488	PIGB	OMIM:618580
HP:0012401	Abnormal urine alpha-ketoglutarate concentration	2746	GLUD1	ORPHA:35878
HP:0012401	Abnormal urine alpha-ketoglutarate concentration	27247	NFU1	OMIM:605711
HP:0012401	Abnormal urine alpha-ketoglutarate concentration	57465	TBC1D24	OMIM:220500
HP:0012401	Abnormal urine alpha-ketoglutarate concentration	57465	TBC1D24	ORPHA:79500
HP:0012401	Abnormal urine alpha-ketoglutarate concentration	27010	TPK1	OMIM:614458
HP:0012401	Abnormal urine alpha-ketoglutarate concentration	1738	DLD	ORPHA:2394
HP:0012401	Abnormal urine alpha-ketoglutarate concentration	51241	COX16	OMIM:619355
HP:0012401	Abnormal urine alpha-ketoglutarate concentration	6390	SDHB	OMIM:619224
HP:0012401	Abnormal urine alpha-ketoglutarate concentration	6576	SLC25A1	OMIM:615182
HP:0012401	Abnormal urine alpha-ketoglutarate concentration	8659	ALDH4A1	ORPHA:79101
HP:0012401	Abnormal urine alpha-ketoglutarate concentration	64849	SLC13A3	OMIM:618384
HP:0012401	Abnormal urine alpha-ketoglutarate concentration	526	ATP6V1B2	ORPHA:79500
HP:0012401	Abnormal urine alpha-ketoglutarate concentration	10157	AASS	ORPHA:2203
HP:0012402	Increased urine alpha-ketoglutarate concentration	9488	PIGB	OMIM:618580
HP:0012402	Increased urine alpha-ketoglutarate concentration	2746	GLUD1	ORPHA:35878
HP:0012402	Increased urine alpha-ketoglutarate concentration	27247	NFU1	OMIM:605711
HP:0012402	Increased urine alpha-ketoglutarate concentration	57465	TBC1D24	OMIM:220500
HP:0012402	Increased urine alpha-ketoglutarate concentration	57465	TBC1D24	ORPHA:79500
HP:0012402	Increased urine alpha-ketoglutarate concentration	27010	TPK1	OMIM:614458
HP:0012402	Increased urine alpha-ketoglutarate concentration	1738	DLD	ORPHA:2394
HP:0012402	Increased urine alpha-ketoglutarate concentration	51241	COX16	OMIM:619355
HP:0012402	Increased urine alpha-ketoglutarate concentration	6390	SDHB	OMIM:619224
HP:0012402	Increased urine alpha-ketoglutarate concentration	6576	SLC25A1	OMIM:615182
HP:0012402	Increased urine alpha-ketoglutarate concentration	8659	ALDH4A1	ORPHA:79101
HP:0012402	Increased urine alpha-ketoglutarate concentration	64849	SLC13A3	OMIM:618384
HP:0012402	Increased urine alpha-ketoglutarate concentration	526	ATP6V1B2	ORPHA:79500
HP:0012403	Decreased urine alpha-ketoglutarate concentration	10157	AASS	ORPHA:2203
HP:0012404	Abnormal urine citrate concentration	10686	CLDN16	OMIM:248250
HP:0012404	Abnormal urine citrate concentration	27199	OXGR1	OMIM:620374
HP:0012405	Hypocitraturia	10686	CLDN16	OMIM:248250
HP:0012405	Hypocitraturia	27199	OXGR1	OMIM:620374
HP:0012406	Hypercitraturia	10686	CLDN16	OMIM:248250
HP:0012407	Scissor gait	547	KIF1A	ORPHA:101010
HP:0012407	Scissor gait	271	AMPD2	ORPHA:401805
HP:0012407	Scissor gait	271	AMPD2	OMIM:615686
HP:0012407	Scissor gait	10159	ATP6AP2	ORPHA:363654
HP:0012407	Scissor gait	6472	SHMT2	OMIM:619121
HP:0012407	Scissor gait	25793	FBXO7	OMIM:260300
HP:0012407	Scissor gait	23516	SLC39A14	OMIM:617013
HP:0012407	Scissor gait	23516	SLC39A14	ORPHA:521406
HP:0012407	Scissor gait	23204	ARL6IP1	OMIM:615685
HP:0012407	Scissor gait	23204	ARL6IP1	ORPHA:401780
HP:0012407	Scissor gait	54463	RETREG1	OMIM:613115
HP:0012407	Scissor gait	2074	ERCC6	OMIM:278800
HP:0012407	Scissor gait	10667	FARS2	ORPHA:466722
HP:0012408	Medullary nephrocalcinosis	10916	MAGED2	OMIM:300971
HP:0012408	Medullary nephrocalcinosis	1497	CTNS	OMIM:219800
HP:0012408	Medullary nephrocalcinosis	142680	SLC34A3	ORPHA:157215
HP:0012408	Medullary nephrocalcinosis	6569	SLC34A1	ORPHA:157215
HP:0012408	Medullary nephrocalcinosis	6569	SLC34A1	OMIM:616963
HP:0012408	Medullary nephrocalcinosis	79989	IFT56	OMIM:619534
HP:0012408	Medullary nephrocalcinosis	5442	POLRMT	OMIM:619743
HP:0012408	Medullary nephrocalcinosis	113179	ADAT3	ORPHA:363528
HP:0012408	Medullary nephrocalcinosis	8074	FGF23	OMIM:617993
HP:0012408	Medullary nephrocalcinosis	5167	ENPP1	ORPHA:51608
HP:0012408	Medullary nephrocalcinosis	5167	ENPP1	OMIM:613312
HP:0012408	Medullary nephrocalcinosis	368	ABCC6	ORPHA:51608
HP:0012408	Medullary nephrocalcinosis	3643	INSR	OMIM:246200
HP:0012408	Medullary nephrocalcinosis	1861	TOR1A	OMIM:618947
HP:0012408	Medullary nephrocalcinosis	1591	CYP24A1	OMIM:143880
HP:0012408	Medullary nephrocalcinosis	78987	CRELD1	OMIM:620771
HP:0012409	Cortical nephrocalcinosis	5167	ENPP1	ORPHA:51608
HP:0012409	Cortical nephrocalcinosis	368	ABCC6	ORPHA:51608
HP:0007109	Periventricular cysts	4953	ODC1	OMIM:619075
HP:0007109	Periventricular cysts	4953	ODC1	ORPHA:544488
HP:0007109	Periventricular cysts	5162	PDHB	ORPHA:255138
HP:0007109	Periventricular cysts	26235	FBXL4	OMIM:615471
HP:0007109	Periventricular cysts	2670	GFAP	ORPHA:363722
HP:0007109	Periventricular cysts	790955	UQCC3	OMIM:616111
HP:0007109	Periventricular cysts	2193	FARSA	OMIM:619013
HP:0007109	Periventricular cysts	387787	LIPT2	OMIM:617668
HP:0007109	Periventricular cysts	9373	PLAA	OMIM:617527
HP:0007109	Periventricular cysts	7468	NSD2	OMIM:194190
HP:0007109	Periventricular cysts	10815	CPLX1	OMIM:194190
HP:0007109	Periventricular cysts	1487	CTBP1	OMIM:194190
HP:0007109	Periventricular cysts	53834	FGFRL1	OMIM:194190
HP:0007109	Periventricular cysts	3954	LETM1	OMIM:194190
HP:0007109	Periventricular cysts	4952	OCRL	OMIM:309000
HP:0007109	Periventricular cysts	8050	PDHX	ORPHA:255182
HP:0007109	Periventricular cysts	90952	ESAM	OMIM:620371
HP:0007100	Progressive ventriculomegaly	6651	SON	ORPHA:500150
HP:0001288	Gait disturbance	3064	HTT	ORPHA:399
HP:0001288	Gait disturbance	6515	SLC2A3	ORPHA:399
HP:0001288	Gait disturbance	2218	FKTN	ORPHA:272
HP:0001288	Gait disturbance	2218	FKTN	ORPHA:588
HP:0001288	Gait disturbance	2218	FKTN	ORPHA:370980
HP:0001288	Gait disturbance	4524	MTHFR	ORPHA:395
HP:0001288	Gait disturbance	4524	MTHFR	OMIM:236250
HP:0001288	Gait disturbance	3094	HINT1	ORPHA:324442
HP:0001288	Gait disturbance	6834	SURF1	OMIM:616684
HP:0001288	Gait disturbance	27247	NFU1	OMIM:620938
HP:0001288	Gait disturbance	8518	ELP1	ORPHA:1764
HP:0001288	Gait disturbance	22880	MORC2	OMIM:616688
HP:0001288	Gait disturbance	22880	MORC2	ORPHA:466768
HP:0001288	Gait disturbance	1161	ERCC8	ORPHA:90324
HP:0001288	Gait disturbance	1161	ERCC8	ORPHA:90321
HP:0001288	Gait disturbance	1161	ERCC8	ORPHA:90322
HP:0001288	Gait disturbance	1161	ERCC8	OMIM:216400
HP:0001288	Gait disturbance	2074	ERCC6	ORPHA:90324
HP:0001288	Gait disturbance	2074	ERCC6	ORPHA:90321
HP:0001288	Gait disturbance	2074	ERCC6	ORPHA:90322
HP:0001288	Gait disturbance	1024	CDK8	OMIM:618748
HP:0001288	Gait disturbance	4204	MECP2	ORPHA:1762
HP:0001288	Gait disturbance	4204	MECP2	ORPHA:3095
HP:0001288	Gait disturbance	4204	MECP2	ORPHA:778
HP:0001288	Gait disturbance	60684	TRAPPC11	OMIM:615356
HP:0001288	Gait disturbance	60684	TRAPPC11	ORPHA:369840
HP:0001288	Gait disturbance	60684	TRAPPC11	ORPHA:369847
HP:0001288	Gait disturbance	2720	GLB1	OMIM:230600
HP:0001288	Gait disturbance	84334	COA8	ORPHA:436271
HP:0001288	Gait disturbance	5927	KDM5A	OMIM:620820
HP:0001288	Gait disturbance	825	CAPN3	OMIM:253600
HP:0001288	Gait disturbance	825	CAPN3	ORPHA:267
HP:0001288	Gait disturbance	825	CAPN3	OMIM:618129
HP:0001288	Gait disturbance	51	ACOX1	ORPHA:2971
HP:0001288	Gait disturbance	51	ACOX1	OMIM:618960
HP:0001288	Gait disturbance	10159	ATP6AP2	ORPHA:93952
HP:0001288	Gait disturbance	10159	ATP6AP2	OMIM:300423
HP:0001288	Gait disturbance	22947	DUX4L1	ORPHA:269
HP:0001288	Gait disturbance	1789	DNMT3B	ORPHA:269
HP:0001288	Gait disturbance	2483	FRG1	ORPHA:269
HP:0001288	Gait disturbance	23347	SMCHD1	ORPHA:269
HP:0001288	Gait disturbance	100288687	DUX4	ORPHA:269
HP:0001288	Gait disturbance	2072	ERCC4	ORPHA:90321
HP:0001288	Gait disturbance	347733	TUBB2B	ORPHA:1766
HP:0001288	Gait disturbance	7436	VLDLR	ORPHA:1766
HP:0001288	Gait disturbance	124997	WDR81	ORPHA:1766
HP:0001288	Gait disturbance	51761	ATP8A2	ORPHA:1766
HP:0001288	Gait disturbance	767	CA8	ORPHA:1766
HP:0001288	Gait disturbance	2067	ERCC1	ORPHA:90322
HP:0001288	Gait disturbance	4000	LMNA	OMIM:181350
HP:0001288	Gait disturbance	4000	LMNA	ORPHA:157973
HP:0001288	Gait disturbance	4000	LMNA	ORPHA:98855
HP:0001288	Gait disturbance	4000	LMNA	ORPHA:98853
HP:0001288	Gait disturbance	4000	LMNA	OMIM:616516
HP:0001288	Gait disturbance	4072	EPCAM	ORPHA:144
HP:0001288	Gait disturbance	4292	MLH1	ORPHA:144
HP:0001288	Gait disturbance	5395	PMS2	ORPHA:144
HP:0001288	Gait disturbance	7048	TGFBR2	ORPHA:144
HP:0001288	Gait disturbance	3845	KRAS	ORPHA:144
HP:0001288	Gait disturbance	5290	PIK3CA	ORPHA:144
HP:0001288	Gait disturbance	5290	PIK3CA	ORPHA:140944
HP:0001288	Gait disturbance	5290	PIK3CA	ORPHA:2495
HP:0001288	Gait disturbance	2956	MSH6	ORPHA:144
HP:0001288	Gait disturbance	5378	PMS1	ORPHA:144
HP:0001288	Gait disturbance	4436	MSH2	ORPHA:144
HP:0001288	Gait disturbance	4552	MTRR	OMIM:236270
HP:0001288	Gait disturbance	5631	PRPS1	ORPHA:99014
HP:0001288	Gait disturbance	5631	PRPS1	OMIM:311070
HP:0001288	Gait disturbance	3074	HEXB	ORPHA:309162
HP:0001288	Gait disturbance	5917	RARS1	ORPHA:438114
HP:0001288	Gait disturbance	6616	SNAP25	OMIM:616330
HP:0001288	Gait disturbance	6616	SNAP25	ORPHA:98914
HP:0001288	Gait disturbance	64218	SEMA4A	ORPHA:440437
HP:0001288	Gait disturbance	472	ATM	ORPHA:440437
HP:0001288	Gait disturbance	472	ATM	ORPHA:100
HP:0001288	Gait disturbance	5426	POLE	ORPHA:440437
HP:0001288	Gait disturbance	675	BRCA2	ORPHA:440437
HP:0001288	Gait disturbance	657	BMPR1A	ORPHA:440437
HP:0001288	Gait disturbance	6224	RPS20	ORPHA:440437
HP:0001288	Gait disturbance	4595	MUTYH	ORPHA:440437
HP:0001288	Gait disturbance	5424	POLD1	ORPHA:440437
HP:0001288	Gait disturbance	11200	CHEK2	ORPHA:440437
HP:0001288	Gait disturbance	23322	RPGRIP1L	ORPHA:220497
HP:0001288	Gait disturbance	23322	RPGRIP1L	ORPHA:1454
HP:0001288	Gait disturbance	4867	NPHP1	ORPHA:220497
HP:0001288	Gait disturbance	65062	TMEM237	ORPHA:220497
HP:0001288	Gait disturbance	65062	TMEM237	ORPHA:475
HP:0001288	Gait disturbance	54806	AHI1	ORPHA:220493
HP:0001288	Gait disturbance	54806	AHI1	ORPHA:475
HP:0001288	Gait disturbance	56623	INPP5E	ORPHA:220493
HP:0001288	Gait disturbance	56623	INPP5E	ORPHA:475
HP:0001288	Gait disturbance	56623	INPP5E	ORPHA:1454
HP:0001288	Gait disturbance	153241	CEP120	ORPHA:220493
HP:0001288	Gait disturbance	153241	CEP120	ORPHA:475
HP:0001288	Gait disturbance	54903	MKS1	ORPHA:220493
HP:0001288	Gait disturbance	54903	MKS1	ORPHA:475
HP:0001288	Gait disturbance	95681	CEP41	ORPHA:220493
HP:0001288	Gait disturbance	95681	CEP41	ORPHA:475
HP:0001288	Gait disturbance	54681	P4HTM	ORPHA:436141
HP:0001288	Gait disturbance	120227	CYP2R1	OMIM:600081
HP:0001288	Gait disturbance	120227	CYP2R1	ORPHA:289157
HP:0001288	Gait disturbance	81846	SBF2	OMIM:604563
HP:0001288	Gait disturbance	81846	SBF2	ORPHA:99956
HP:0001288	Gait disturbance	22954	TRIM32	ORPHA:1878
HP:0001288	Gait disturbance	100996717	NOTCH2NLC	OMIM:603472
HP:0001288	Gait disturbance	100996717	NOTCH2NLC	ORPHA:98897
HP:0001288	Gait disturbance	4625	MYH7	OMIM:160500
HP:0001288	Gait disturbance	4625	MYH7	ORPHA:59135
HP:0001288	Gait disturbance	4625	MYH7	OMIM:608358
HP:0001288	Gait disturbance	23400	ATP13A2	ORPHA:314632
HP:0001288	Gait disturbance	23400	ATP13A2	ORPHA:513436
HP:0001288	Gait disturbance	23400	ATP13A2	ORPHA:306674
HP:0001288	Gait disturbance	23400	ATP13A2	OMIM:606693
HP:0001288	Gait disturbance	410	ARSA	ORPHA:309271
HP:0001288	Gait disturbance	410	ARSA	OMIM:250100
HP:0001288	Gait disturbance	5660	PSAP	ORPHA:309271
HP:0001288	Gait disturbance	6444	SGCD	OMIM:601287
HP:0001288	Gait disturbance	60482	SLC5A7	OMIM:158580
HP:0001288	Gait disturbance	60482	SLC5A7	ORPHA:98914
HP:0001288	Gait disturbance	79147	FKRP	OMIM:606612
HP:0001288	Gait disturbance	79147	FKRP	ORPHA:588
HP:0001288	Gait disturbance	79147	FKRP	ORPHA:370980
HP:0001288	Gait disturbance	79147	FKRP	OMIM:607155
HP:0001288	Gait disturbance	348	APOE	OMIM:607822
HP:0001288	Gait disturbance	5663	PSEN1	OMIM:607822
HP:0001288	Gait disturbance	5663	PSEN1	ORPHA:275864
HP:0001288	Gait disturbance	57589	RIC1	OMIM:618761
HP:0001288	Gait disturbance	1600	DAB1	ORPHA:363710
HP:0001288	Gait disturbance	4358	MPV17	OMIM:618400
HP:0001288	Gait disturbance	4358	MPV17	OMIM:256810
HP:0001288	Gait disturbance	5832	ALDH18A1	OMIM:616586
HP:0001288	Gait disturbance	5832	ALDH18A1	OMIM:601162
HP:0001288	Gait disturbance	55154	MSTO1	OMIM:617675
HP:0001288	Gait disturbance	55154	MSTO1	ORPHA:502423
HP:0001288	Gait disturbance	215	ABCD1	ORPHA:139396
HP:0001288	Gait disturbance	199857	ALG14	OMIM:616227
HP:0001288	Gait disturbance	199857	ALG14	ORPHA:353327
HP:0001288	Gait disturbance	51308	REEP2	OMIM:620606
HP:0001288	Gait disturbance	1759	DNM1	OMIM:616346
HP:0001288	Gait disturbance	1759	DNM1	ORPHA:442835
HP:0001288	Gait disturbance	81857	MED25	ORPHA:464738
HP:0001288	Gait disturbance	83480	PUS3	ORPHA:488627
HP:0001288	Gait disturbance	2697	GJA1	ORPHA:2710
HP:0001288	Gait disturbance	1130	LYST	ORPHA:167
HP:0001288	Gait disturbance	1130	LYST	OMIM:214500
HP:0001288	Gait disturbance	343641	TGM6	ORPHA:276193
HP:0001288	Gait disturbance	343641	TGM6	OMIM:613908
HP:0001288	Gait disturbance	5354	PLP1	ORPHA:280210
HP:0001288	Gait disturbance	5354	PLP1	ORPHA:280219
HP:0001288	Gait disturbance	5354	PLP1	ORPHA:280234
HP:0001288	Gait disturbance	5354	PLP1	ORPHA:280229
HP:0001288	Gait disturbance	8726	EED	OMIM:617561
HP:0001288	Gait disturbance	10715	CERS1	OMIM:616230
HP:0001288	Gait disturbance	11107	PRDM5	OMIM:614170
HP:0001288	Gait disturbance	11107	PRDM5	ORPHA:90354
HP:0001288	Gait disturbance	5297	PI4KA	OMIM:619621
HP:0001288	Gait disturbance	1656	DDX6	OMIM:618653
HP:0001288	Gait disturbance	1594	CYP27B1	OMIM:264700
HP:0001288	Gait disturbance	1594	CYP27B1	ORPHA:289157
HP:0001288	Gait disturbance	8789	FBP2	OMIM:619864
HP:0001288	Gait disturbance	83636	C19orf12	OMIM:614298
HP:0001288	Gait disturbance	83636	C19orf12	OMIM:615043
HP:0001288	Gait disturbance	246243	RNASEH1	OMIM:616479
HP:0001288	Gait disturbance	80208	SPG11	ORPHA:2822
HP:0001288	Gait disturbance	80208	SPG11	ORPHA:300605
HP:0001288	Gait disturbance	80208	SPG11	OMIM:616668
HP:0001288	Gait disturbance	51271	UBAP1	OMIM:618418
HP:0001288	Gait disturbance	51271	UBAP1	ORPHA:100993
HP:0001288	Gait disturbance	55526	DHTKD1	OMIM:615025
HP:0001288	Gait disturbance	88	ACTN2	OMIM:618655
HP:0001288	Gait disturbance	5376	PMP22	ORPHA:90658
HP:0001288	Gait disturbance	5376	PMP22	ORPHA:101081
HP:0001288	Gait disturbance	5376	PMP22	OMIM:118300
HP:0001288	Gait disturbance	5376	PMP22	ORPHA:3115
HP:0001288	Gait disturbance	7471	WNT1	ORPHA:85193
HP:0001288	Gait disturbance	22943	DKK1	ORPHA:85193
HP:0001288	Gait disturbance	89780	WNT3A	ORPHA:85193
HP:0001288	Gait disturbance	3737	KCNA2	ORPHA:442835
HP:0001288	Gait disturbance	8120	AP3B2	ORPHA:442835
HP:0001288	Gait disturbance	523	ATP6V1A	ORPHA:442835
HP:0001288	Gait disturbance	523	ATP6V1A	OMIM:618012
HP:0001288	Gait disturbance	10991	SLC38A3	ORPHA:442835
HP:0001288	Gait disturbance	51343	FZR1	ORPHA:442835
HP:0001288	Gait disturbance	3747	KCNC2	ORPHA:442835
HP:0001288	Gait disturbance	1917	EEF1A2	ORPHA:442835
HP:0001288	Gait disturbance	23219	FBXO28	ORPHA:442835
HP:0001288	Gait disturbance	2561	GABRB2	ORPHA:442835
HP:0001288	Gait disturbance	2561	GABRB2	OMIM:617829
HP:0001288	Gait disturbance	8831	SYNGAP1	ORPHA:442835
HP:0001288	Gait disturbance	8831	SYNGAP1	ORPHA:544254
HP:0001288	Gait disturbance	2558	GABRA5	ORPHA:442835
HP:0001288	Gait disturbance	2906	GRIN2D	ORPHA:442835
HP:0001288	Gait disturbance	116150	NUS1	ORPHA:442835
HP:0001288	Gait disturbance	1213	CLTC	ORPHA:442835
HP:0001288	Gait disturbance	51741	WWOX	ORPHA:442835
HP:0001288	Gait disturbance	23334	SZT2	ORPHA:442835
HP:0001288	Gait disturbance	348980	HCN1	ORPHA:442835
HP:0001288	Gait disturbance	25977	NECAP1	ORPHA:442835
HP:0001288	Gait disturbance	23241	PACS2	ORPHA:442835
HP:0001288	Gait disturbance	16	AARS1	ORPHA:442835
HP:0001288	Gait disturbance	16	AARS1	OMIM:619661
HP:0001288	Gait disturbance	6334	SCN8A	ORPHA:442835
HP:0001288	Gait disturbance	9568	GABBR2	ORPHA:442835
HP:0001288	Gait disturbance	9568	GABBR2	ORPHA:3095
HP:0001288	Gait disturbance	9568	GABBR2	OMIM:617903
HP:0001288	Gait disturbance	2555	GABRA2	ORPHA:442835
HP:0001288	Gait disturbance	55152	DALRD3	ORPHA:442835
HP:0001288	Gait disturbance	26999	CYFIP2	ORPHA:442835
HP:0001288	Gait disturbance	4915	NTRK2	ORPHA:442835
HP:0001288	Gait disturbance	25973	PARS2	ORPHA:442835
HP:0001288	Gait disturbance	23097	CDK19	ORPHA:442835
HP:0001288	Gait disturbance	2257	FGF12	ORPHA:442835
HP:0001288	Gait disturbance	2257	FGF12	OMIM:617166
HP:0001288	Gait disturbance	5530	PPP3CA	ORPHA:442835
HP:0001288	Gait disturbance	478	ATP1A3	ORPHA:442835
HP:0001288	Gait disturbance	22906	TRAK1	ORPHA:442835
HP:0001288	Gait disturbance	2566	GABRG2	ORPHA:442835
HP:0001288	Gait disturbance	7532	YWHAG	ORPHA:442835
HP:0001288	Gait disturbance	79876	UBA5	ORPHA:442835
HP:0001288	Gait disturbance	6328	SCN3A	ORPHA:442835
HP:0001288	Gait disturbance	781	CACNA2D1	ORPHA:442835
HP:0001288	Gait disturbance	10659	CELF2	ORPHA:442835
HP:0001288	Gait disturbance	774	CACNA1B	ORPHA:442835
HP:0001288	Gait disturbance	51412	ACTL6B	ORPHA:442835
HP:0001288	Gait disturbance	2290	FOXG1	ORPHA:442835
HP:0001288	Gait disturbance	6506	SLC1A2	ORPHA:442835
HP:0001288	Gait disturbance	8867	SYNJ1	ORPHA:442835
HP:0001288	Gait disturbance	8867	SYNJ1	OMIM:615530
HP:0001288	Gait disturbance	477	ATP1A2	ORPHA:442835
HP:0001288	Gait disturbance	3745	KCNB1	ORPHA:442835
HP:0001288	Gait disturbance	284111	SLC13A5	ORPHA:442835
HP:0001288	Gait disturbance	22866	CNKSR2	ORPHA:442835
HP:0001288	Gait disturbance	773	CACNA1A	ORPHA:442835
HP:0001288	Gait disturbance	6323	SCN1A	ORPHA:442835
HP:0001288	Gait disturbance	79947	DHDDS	ORPHA:442835
HP:0001288	Gait disturbance	26834	RNU4-2	OMIM:620851
HP:0001288	Gait disturbance	10528	NOP56	ORPHA:276198
HP:0001288	Gait disturbance	4854	NOTCH3	OMIM:125310
HP:0001288	Gait disturbance	4854	NOTCH3	ORPHA:136
HP:0001288	Gait disturbance	9851	KIAA0753	ORPHA:475
HP:0001288	Gait disturbance	9851	KIAA0753	ORPHA:2754
HP:0001288	Gait disturbance	5147	PDE6D	ORPHA:475
HP:0001288	Gait disturbance	5147	PDE6D	ORPHA:2754
HP:0001288	Gait disturbance	79600	TCTN1	ORPHA:475
HP:0001288	Gait disturbance	79848	CSPP1	ORPHA:475
HP:0001288	Gait disturbance	8481	OFD1	ORPHA:475
HP:0001288	Gait disturbance	8481	OFD1	ORPHA:2754
HP:0001288	Gait disturbance	51684	SUFU	ORPHA:475
HP:0001288	Gait disturbance	51684	SUFU	ORPHA:2495
HP:0001288	Gait disturbance	65250	CPLANE1	ORPHA:475
HP:0001288	Gait disturbance	65250	CPLANE1	ORPHA:2754
HP:0001288	Gait disturbance	91147	TMEM67	ORPHA:475
HP:0001288	Gait disturbance	91147	TMEM67	ORPHA:1454
HP:0001288	Gait disturbance	200894	ARL13B	ORPHA:475
HP:0001288	Gait disturbance	9731	CEP104	ORPHA:475
HP:0001288	Gait disturbance	219844	HYLS1	ORPHA:475
HP:0001288	Gait disturbance	23247	KATNIP	ORPHA:475
HP:0001288	Gait disturbance	219854	TMEM218	ORPHA:475
HP:0001288	Gait disturbance	9786	KIAA0586	ORPHA:475
HP:0001288	Gait disturbance	26123	TCTN3	ORPHA:475
HP:0001288	Gait disturbance	26123	TCTN3	ORPHA:2754
HP:0001288	Gait disturbance	79867	TCTN2	ORPHA:475
HP:0001288	Gait disturbance	79867	TCTN2	OMIM:616654
HP:0001288	Gait disturbance	80776	B9D2	ORPHA:475
HP:0001288	Gait disturbance	10464	PIBF1	ORPHA:475
HP:0001288	Gait disturbance	80210	ARMC9	ORPHA:475
HP:0001288	Gait disturbance	23116	TOGARAM1	ORPHA:475
HP:0001288	Gait disturbance	25776	CBY1	ORPHA:475
HP:0001288	Gait disturbance	27077	B9D1	ORPHA:475
HP:0001288	Gait disturbance	403	ARL3	ORPHA:475
HP:0001288	Gait disturbance	80173	IFT74	ORPHA:475
HP:0001288	Gait disturbance	5654	HTRA1	ORPHA:199354
HP:0001288	Gait disturbance	5654	HTRA1	OMIM:600142
HP:0001288	Gait disturbance	5654	HTRA1	OMIM:616779
HP:0001288	Gait disturbance	7273	TTN	OMIM:603689
HP:0001288	Gait disturbance	7273	TTN	ORPHA:178464
HP:0001288	Gait disturbance	7273	TTN	ORPHA:609
HP:0001288	Gait disturbance	9131	AIFM1	ORPHA:101078
HP:0001288	Gait disturbance	9131	AIFM1	ORPHA:83629
HP:0001288	Gait disturbance	8622	PDE8B	ORPHA:228169
HP:0001288	Gait disturbance	8622	PDE8B	OMIM:609161
HP:0001288	Gait disturbance	1763	DNA2	OMIM:615156
HP:0001288	Gait disturbance	1763	DNA2	ORPHA:352470
HP:0001288	Gait disturbance	91574	MTRFR	OMIM:615035
HP:0001288	Gait disturbance	91574	MTRFR	ORPHA:254930
HP:0001288	Gait disturbance	142680	SLC34A3	OMIM:241530
HP:0001288	Gait disturbance	84504	NKX6-2	ORPHA:527497
HP:0001288	Gait disturbance	203859	ANO5	ORPHA:399096
HP:0001288	Gait disturbance	55773	TBC1D23	OMIM:617695
HP:0001288	Gait disturbance	391356	PTRHD1	OMIM:620747
HP:0001288	Gait disturbance	5590	PRKCZ	ORPHA:1606
HP:0001288	Gait disturbance	2563	GABRD	ORPHA:1606
HP:0001288	Gait disturbance	23013	SPEN	ORPHA:1606
HP:0001288	Gait disturbance	8510	MMP23B	ORPHA:1606
HP:0001288	Gait disturbance	7798	LUZP1	ORPHA:1606
HP:0001288	Gait disturbance	6497	SKI	ORPHA:1606
HP:0001288	Gait disturbance	10630	PDPN	ORPHA:1606
HP:0001288	Gait disturbance	3339	HSPG2	ORPHA:1606
HP:0001288	Gait disturbance	3339	HSPG2	ORPHA:800
HP:0001288	Gait disturbance	10277	UBE4B	ORPHA:1606
HP:0001288	Gait disturbance	8514	KCNAB2	ORPHA:1606
HP:0001288	Gait disturbance	473	RERE	ORPHA:1606
HP:0001288	Gait disturbance	63976	PRDM16	ORPHA:1606
HP:0001288	Gait disturbance	54897	CASZ1	ORPHA:1606
HP:0001288	Gait disturbance	2705	GJB1	ORPHA:101075
HP:0001288	Gait disturbance	2705	GJB1	OMIM:302800
HP:0001288	Gait disturbance	148789	B3GALNT2	ORPHA:588
HP:0001288	Gait disturbance	29925	GMPPB	ORPHA:588
HP:0001288	Gait disturbance	29925	GMPPB	ORPHA:353327
HP:0001288	Gait disturbance	9215	LARGE1	ORPHA:588
HP:0001288	Gait disturbance	29954	POMT2	ORPHA:588
HP:0001288	Gait disturbance	29954	POMT2	ORPHA:206559
HP:0001288	Gait disturbance	729920	CRPPA	ORPHA:588
HP:0001288	Gait disturbance	729920	CRPPA	ORPHA:370980
HP:0001288	Gait disturbance	55624	POMGNT1	ORPHA:588
HP:0001288	Gait disturbance	10585	POMT1	ORPHA:588
HP:0001288	Gait disturbance	10585	POMT1	ORPHA:370980
HP:0001288	Gait disturbance	10585	POMT1	OMIM:609308
HP:0001288	Gait disturbance	10585	POMT1	ORPHA:86812
HP:0001288	Gait disturbance	1859	DYRK1A	ORPHA:464311
HP:0001288	Gait disturbance	1859	DYRK1A	ORPHA:268261
HP:0001288	Gait disturbance	1859	DYRK1A	OMIM:614104
HP:0001288	Gait disturbance	8517	IKBKG	ORPHA:464
HP:0001288	Gait disturbance	3766	KCNJ10	ORPHA:199343
HP:0001288	Gait disturbance	6305	SBF1	OMIM:615284
HP:0001288	Gait disturbance	55958	KLHL9	ORPHA:399081
HP:0001288	Gait disturbance	8733	GPAA1	ORPHA:529665
HP:0001288	Gait disturbance	5621	PRNP	ORPHA:157941
HP:0001288	Gait disturbance	6329	SCN4A	OMIM:614198
HP:0001288	Gait disturbance	6329	SCN4A	ORPHA:682
HP:0001288	Gait disturbance	6329	SCN4A	ORPHA:99735
HP:0001288	Gait disturbance	6329	SCN4A	ORPHA:99736
HP:0001288	Gait disturbance	6329	SCN4A	ORPHA:99734
HP:0001288	Gait disturbance	6621	SNAPC4	OMIM:620515
HP:0001288	Gait disturbance	400916	CHCHD10	OMIM:615048
HP:0001288	Gait disturbance	400916	CHCHD10	ORPHA:276435
HP:0001288	Gait disturbance	11160	ERLIN2	OMIM:620512
HP:0001288	Gait disturbance	11160	ERLIN2	OMIM:611225
HP:0001288	Gait disturbance	6901	TAFAZZIN	OMIM:302060
HP:0001288	Gait disturbance	9338	TCEAL1	OMIM:301094
HP:0001288	Gait disturbance	6785	ELOVL4	ORPHA:1955
HP:0001288	Gait disturbance	57192	MCOLN1	ORPHA:578
HP:0001288	Gait disturbance	84627	ZNF469	ORPHA:90354
HP:0001288	Gait disturbance	57104	PNPLA2	OMIM:610717
HP:0001288	Gait disturbance	57104	PNPLA2	ORPHA:98908
HP:0001288	Gait disturbance	5610	EIF2AK2	ORPHA:256
HP:0001288	Gait disturbance	1861	TOR1A	ORPHA:256
HP:0001288	Gait disturbance	55164	SHQ1	ORPHA:256
HP:0001288	Gait disturbance	1436	CSF1R	OMIM:221820
HP:0001288	Gait disturbance	1436	CSF1R	OMIM:618476
HP:0001288	Gait disturbance	111	ADCY5	ORPHA:324588
HP:0001288	Gait disturbance	111	ADCY5	ORPHA:1429
HP:0001288	Gait disturbance	54941	RNF125	OMIM:616260
HP:0001288	Gait disturbance	339855	KY	OMIM:617114
HP:0001288	Gait disturbance	10463	SLC30A9	OMIM:617595
HP:0001288	Gait disturbance	57679	ALS2	OMIM:205100
HP:0001288	Gait disturbance	57679	ALS2	ORPHA:300605
HP:0001288	Gait disturbance	6709	SPTAN1	OMIM:620528
HP:0001288	Gait disturbance	6709	SPTAN1	OMIM:620538
HP:0001288	Gait disturbance	6572	SLC18A3	OMIM:617239
HP:0001288	Gait disturbance	6572	SLC18A3	ORPHA:98914
HP:0001288	Gait disturbance	10229	COQ7	OMIM:620402
HP:0001288	Gait disturbance	6843	VAMP1	ORPHA:251282
HP:0001288	Gait disturbance	6843	VAMP1	OMIM:108600
HP:0001288	Gait disturbance	6843	VAMP1	ORPHA:98914
HP:0001288	Gait disturbance	1967	EIF2B1	OMIM:603896
HP:0001288	Gait disturbance	79628	SH3TC2	OMIM:601596
HP:0001288	Gait disturbance	79628	SH3TC2	ORPHA:99949
HP:0001288	Gait disturbance	367	AR	ORPHA:481
HP:0001288	Gait disturbance	2512	FTL	ORPHA:157846
HP:0001288	Gait disturbance	2629	GBA1	ORPHA:77261
HP:0001288	Gait disturbance	4883	NPR3	OMIM:619543
HP:0001288	Gait disturbance	26173	INTS1	OMIM:618571
HP:0001288	Gait disturbance	3508	IGHMBP2	OMIM:616155
HP:0001288	Gait disturbance	2583	B4GALNT1	OMIM:609195
HP:0001288	Gait disturbance	2583	B4GALNT1	ORPHA:101006
HP:0001288	Gait disturbance	11232	POLG2	OMIM:619425
HP:0001288	Gait disturbance	11232	POLG2	ORPHA:254892
HP:0001288	Gait disturbance	5081	PAX7	OMIM:618578
HP:0001288	Gait disturbance	8291	DYSF	ORPHA:45448
HP:0001288	Gait disturbance	6443	SGCB	ORPHA:119
HP:0001288	Gait disturbance	78987	CRELD1	OMIM:620771
HP:0001288	Gait disturbance	165918	RNF168	ORPHA:420741
HP:0001288	Gait disturbance	4001	LMNB1	ORPHA:99027
HP:0001288	Gait disturbance	7080	NKX2-1	OMIM:610978
HP:0001288	Gait disturbance	7080	NKX2-1	OMIM:118700
HP:0001288	Gait disturbance	7080	NKX2-1	ORPHA:1429
HP:0001288	Gait disturbance	2260	FGFR1	ORPHA:478
HP:0001288	Gait disturbance	10371	SEMA3A	ORPHA:478
HP:0001288	Gait disturbance	81848	SPRY4	ORPHA:478
HP:0001288	Gait disturbance	23767	FLRT3	ORPHA:478
HP:0001288	Gait disturbance	128674	PROKR2	ORPHA:478
HP:0001288	Gait disturbance	79625	NDNF	ORPHA:478
HP:0001288	Gait disturbance	2253	FGF8	ORPHA:478
HP:0001288	Gait disturbance	389549	FEZF1	ORPHA:478
HP:0001288	Gait disturbance	1630	DCC	ORPHA:478
HP:0001288	Gait disturbance	3730	ANOS1	ORPHA:478
HP:0001288	Gait disturbance	54756	IL17RD	ORPHA:478
HP:0001288	Gait disturbance	6663	SOX10	ORPHA:478
HP:0001288	Gait disturbance	285025	CCDC141	ORPHA:478
HP:0001288	Gait disturbance	60675	PROK2	ORPHA:478
HP:0001288	Gait disturbance	55636	CHD7	ORPHA:478
HP:0001288	Gait disturbance	1848	DUSP6	ORPHA:478
HP:0001288	Gait disturbance	6870	TACR3	ORPHA:478
HP:0001288	Gait disturbance	55717	WDR11	ORPHA:478
HP:0001288	Gait disturbance	9394	HS6ST1	ORPHA:478
HP:0001288	Gait disturbance	8820	HESX1	ORPHA:478
HP:0001288	Gait disturbance	8822	FGF17	ORPHA:478
HP:0001288	Gait disturbance	54808	DYM	ORPHA:239
HP:0001288	Gait disturbance	149233	IL23R	ORPHA:117
HP:0001288	Gait disturbance	6775	STAT4	ORPHA:117
HP:0001288	Gait disturbance	3586	IL10	ORPHA:117
HP:0001288	Gait disturbance	4210	MEFV	ORPHA:117
HP:0001288	Gait disturbance	1230	CCR1	ORPHA:117
HP:0001288	Gait disturbance	355	FAS	ORPHA:117
HP:0001288	Gait disturbance	3592	IL12A	ORPHA:117
HP:0001288	Gait disturbance	101928376	IL12A-AS1	ORPHA:117
HP:0001288	Gait disturbance	3106	HLA-B	ORPHA:117
HP:0001288	Gait disturbance	7099	TLR4	ORPHA:117
HP:0001288	Gait disturbance	3459	IFNGR1	ORPHA:117
HP:0001288	Gait disturbance	720	C4A	ORPHA:117
HP:0001288	Gait disturbance	337867	UBAC2	ORPHA:117
HP:0001288	Gait disturbance	51752	ERAP1	ORPHA:117
HP:0001288	Gait disturbance	8302	KLRC4	ORPHA:117
HP:0001288	Gait disturbance	23064	SETX	OMIM:602433
HP:0001288	Gait disturbance	23064	SETX	ORPHA:357043
HP:0001288	Gait disturbance	291	SLC25A4	ORPHA:254892
HP:0001288	Gait disturbance	5428	POLG	ORPHA:254892
HP:0001288	Gait disturbance	5428	POLG	ORPHA:94125
HP:0001288	Gait disturbance	56652	TWNK	ORPHA:254892
HP:0001288	Gait disturbance	56652	TWNK	OMIM:609286
HP:0001288	Gait disturbance	50484	RRM2B	ORPHA:254892
HP:0001288	Gait disturbance	23111	SPART	OMIM:275900
HP:0001288	Gait disturbance	4141	MARS1	OMIM:616280
HP:0001288	Gait disturbance	10020	GNE	OMIM:605820
HP:0001288	Gait disturbance	4558	MT-TF	ORPHA:550
HP:0001288	Gait disturbance	4572	MT-TQ	ORPHA:550
HP:0001288	Gait disturbance	4512	MT-CO1	ORPHA:550
HP:0001288	Gait disturbance	4512	MT-CO1	ORPHA:99845
HP:0001288	Gait disturbance	4513	MT-CO2	ORPHA:550
HP:0001288	Gait disturbance	4514	MT-CO3	ORPHA:550
HP:0001288	Gait disturbance	4514	MT-CO3	ORPHA:99845
HP:0001288	Gait disturbance	4578	MT-TW	ORPHA:550
HP:0001288	Gait disturbance	4540	MT-ND5	ORPHA:550
HP:0001288	Gait disturbance	4541	MT-ND6	ORPHA:550
HP:0001288	Gait disturbance	4535	MT-ND1	ORPHA:550
HP:0001288	Gait disturbance	4538	MT-ND4	ORPHA:550
HP:0001288	Gait disturbance	4567	MT-TL1	ORPHA:550
HP:0001288	Gait disturbance	4574	MT-TS1	ORPHA:550
HP:0001288	Gait disturbance	4575	MT-TS2	ORPHA:550
HP:0001288	Gait disturbance	4564	MT-TH	ORPHA:550
HP:0001288	Gait disturbance	10059	DNM1L	ORPHA:330050
HP:0001288	Gait disturbance	10059	DNM1L	ORPHA:98673
HP:0001288	Gait disturbance	4728	NDUFS8	OMIM:618222
HP:0001288	Gait disturbance	126129	CPT1C	OMIM:616282
HP:0001288	Gait disturbance	126129	CPT1C	ORPHA:444099
HP:0001288	Gait disturbance	23516	SLC39A14	OMIM:617013
HP:0001288	Gait disturbance	23345	SYNE1	ORPHA:88644
HP:0001288	Gait disturbance	23345	SYNE1	ORPHA:98853
HP:0001288	Gait disturbance	1410	CRYAB	ORPHA:399058
HP:0001288	Gait disturbance	4508	MT-ATP6	ORPHA:320360
HP:0001288	Gait disturbance	4508	MT-ATP6	ORPHA:225154
HP:0001288	Gait disturbance	7415	VCP	OMIM:167320
HP:0001288	Gait disturbance	7415	VCP	ORPHA:435387
HP:0001288	Gait disturbance	7415	VCP	OMIM:613954
HP:0001288	Gait disturbance	7415	VCP	ORPHA:275864
HP:0001288	Gait disturbance	7415	VCP	ORPHA:329478
HP:0001288	Gait disturbance	7415	VCP	ORPHA:329475
HP:0001288	Gait disturbance	4703	NEB	OMIM:256030
HP:0001288	Gait disturbance	4703	NEB	ORPHA:171436
HP:0001288	Gait disturbance	4703	NEB	ORPHA:171433
HP:0001288	Gait disturbance	4703	NEB	ORPHA:171439
HP:0001288	Gait disturbance	3208	HPCA	ORPHA:99657
HP:0001288	Gait disturbance	170302	ARX	ORPHA:94083
HP:0001288	Gait disturbance	6792	CDKL5	ORPHA:3095
HP:0001288	Gait disturbance	6792	CDKL5	ORPHA:505652
HP:0001288	Gait disturbance	22854	NTNG1	ORPHA:3095
HP:0001288	Gait disturbance	8243	SMC1A	ORPHA:3095
HP:0001288	Gait disturbance	2581	GALC	ORPHA:206443
HP:0001288	Gait disturbance	2581	GALC	ORPHA:206448
HP:0001288	Gait disturbance	10397	NDRG1	OMIM:601455
HP:0001288	Gait disturbance	84909	AOPEP	OMIM:619565
HP:0001288	Gait disturbance	518	ATP5MC3	OMIM:619681
HP:0001288	Gait disturbance	8878	SQSTM1	OMIM:617145
HP:0001288	Gait disturbance	8878	SQSTM1	ORPHA:275864
HP:0001288	Gait disturbance	8878	SQSTM1	ORPHA:603
HP:0001288	Gait disturbance	137682	NDUFAF6	OMIM:618239
HP:0001288	Gait disturbance	427	ASAH1	OMIM:159950
HP:0001288	Gait disturbance	427	ASAH1	ORPHA:2590
HP:0001288	Gait disturbance	4976	OPA1	ORPHA:98673
HP:0001288	Gait disturbance	4976	OPA1	OMIM:210000
HP:0001288	Gait disturbance	4976	OPA1	OMIM:125250
HP:0001288	Gait disturbance	5071	PRKN	OMIM:600116
HP:0001288	Gait disturbance	65055	REEP1	ORPHA:101011
HP:0001288	Gait disturbance	351	APP	ORPHA:324708
HP:0001288	Gait disturbance	8925	HERC1	ORPHA:457359
HP:0001288	Gait disturbance	7084	TK2	ORPHA:254875
HP:0001288	Gait disturbance	28982	FLVCR1	ORPHA:88628
HP:0001288	Gait disturbance	112939	NACC1	OMIM:617393
HP:0001288	Gait disturbance	55572	FOXRED1	OMIM:618241
HP:0001288	Gait disturbance	80224	NUBPL	OMIM:618242
HP:0001288	Gait disturbance	7169	TPM2	OMIM:609285
HP:0001288	Gait disturbance	7169	TPM2	ORPHA:171436
HP:0001288	Gait disturbance	7169	TPM2	ORPHA:171439
HP:0001288	Gait disturbance	54834	GDAP2	OMIM:618369
HP:0001288	Gait disturbance	29920	PYCR2	ORPHA:481152
HP:0001288	Gait disturbance	378884	NHLRC1	OMIM:620681
HP:0001288	Gait disturbance	378884	NHLRC1	ORPHA:501
HP:0001288	Gait disturbance	2632	GBE1	ORPHA:206583
HP:0001288	Gait disturbance	2632	GBE1	OMIM:263570
HP:0001288	Gait disturbance	112812	FDX2	OMIM:251900
HP:0001288	Gait disturbance	51102	MECR	OMIM:617282
HP:0001288	Gait disturbance	51102	MECR	ORPHA:508093
HP:0001288	Gait disturbance	6261	RYR1	ORPHA:424107
HP:0001288	Gait disturbance	6261	RYR1	ORPHA:169189
HP:0001288	Gait disturbance	1280	COL2A1	OMIM:156550
HP:0001288	Gait disturbance	51324	SPG21	ORPHA:101001
HP:0001288	Gait disturbance	51324	SPG21	OMIM:248900
HP:0001288	Gait disturbance	5903	RANBP2	ORPHA:88619
HP:0001288	Gait disturbance	2743	GLRB	ORPHA:3197
HP:0001288	Gait disturbance	2741	GLRA1	ORPHA:3197
HP:0001288	Gait disturbance	10243	GPHN	ORPHA:3197
HP:0001288	Gait disturbance	84896	ATAD1	ORPHA:3197
HP:0001288	Gait disturbance	9152	SLC6A5	ORPHA:3197
HP:0001288	Gait disturbance	26175	LYSET	OMIM:619345
HP:0001288	Gait disturbance	9757	KMT2B	OMIM:617284
HP:0001288	Gait disturbance	2992	GYG1	OMIM:616199
HP:0001288	Gait disturbance	3188	HNRNPH2	OMIM:300986
HP:0001288	Gait disturbance	390594	KBTBD13	OMIM:609273
HP:0001288	Gait disturbance	390594	KBTBD13	ORPHA:171439
HP:0001288	Gait disturbance	2475	MTOR	ORPHA:457485
HP:0001288	Gait disturbance	9256	TSPOAP1	OMIM:620456
HP:0001288	Gait disturbance	57187	THOC2	ORPHA:457240
HP:0001288	Gait disturbance	57187	THOC2	OMIM:300957
HP:0001288	Gait disturbance	4548	MTR	OMIM:250940
HP:0001288	Gait disturbance	29967	LRP12	OMIM:620452
HP:0001288	Gait disturbance	29967	LRP12	ORPHA:98897
HP:0001288	Gait disturbance	29967	LRP12	OMIM:164310
HP:0001288	Gait disturbance	1756	DMD	ORPHA:98895
HP:0001288	Gait disturbance	79736	TEFM	OMIM:620451
HP:0001288	Gait disturbance	353116	RILPL1	ORPHA:98897
HP:0001288	Gait disturbance	10755	GIPC1	ORPHA:98897
HP:0001288	Gait disturbance	23316	CUX2	OMIM:618141
HP:0001288	Gait disturbance	94005	PIGS	OMIM:618143
HP:0001288	Gait disturbance	26580	BSCL2	OMIM:619112
HP:0001288	Gait disturbance	2318	FLNC	ORPHA:63273
HP:0001288	Gait disturbance	2318	FLNC	ORPHA:171445
HP:0001288	Gait disturbance	4762	NEUROG1	OMIM:620469
HP:0001288	Gait disturbance	7957	EPM2A	ORPHA:501
HP:0001288	Gait disturbance	7957	EPM2A	OMIM:254780
HP:0001288	Gait disturbance	6872	TAF1	ORPHA:53351
HP:0001288	Gait disturbance	6872	TAF1	OMIM:300966
HP:0001288	Gait disturbance	1605	DAG1	OMIM:613818
HP:0001288	Gait disturbance	283446	MYO1H	OMIM:619482
HP:0001288	Gait disturbance	5375	PMP2	OMIM:618279
HP:0001288	Gait disturbance	79152	FA2H	ORPHA:171629
HP:0001288	Gait disturbance	79152	FA2H	OMIM:612319
HP:0001288	Gait disturbance	57704	GBA2	ORPHA:320391
HP:0001288	Gait disturbance	3710	ITPR3	OMIM:620111
HP:0001288	Gait disturbance	2799	GNS	OMIM:252940
HP:0001288	Gait disturbance	1303	COL12A1	ORPHA:610
HP:0001288	Gait disturbance	1291	COL6A1	ORPHA:610
HP:0001288	Gait disturbance	1292	COL6A2	ORPHA:610
HP:0001288	Gait disturbance	1293	COL6A3	ORPHA:610
HP:0001288	Gait disturbance	1200	TPP1	ORPHA:284324
HP:0001288	Gait disturbance	25978	CHMP2B	OMIM:600795
HP:0001288	Gait disturbance	25978	CHMP2B	ORPHA:275864
HP:0001288	Gait disturbance	26137	ZBTB20	ORPHA:3042
HP:0001288	Gait disturbance	5317	PKP1	ORPHA:158668
HP:0001288	Gait disturbance	23636	NUP62	ORPHA:225154
HP:0001288	Gait disturbance	53371	NUP54	ORPHA:225154
HP:0001288	Gait disturbance	103	ADAR	ORPHA:225154
HP:0001288	Gait disturbance	103	ADAR	ORPHA:51
HP:0001288	Gait disturbance	6389	SDHA	OMIM:619259
HP:0001288	Gait disturbance	89970	RSPRY1	ORPHA:457395
HP:0001288	Gait disturbance	2521	FUS	OMIM:608030
HP:0001288	Gait disturbance	2521	FUS	ORPHA:300605
HP:0001288	Gait disturbance	2733	GLE1	OMIM:611890
HP:0001288	Gait disturbance	10273	STUB1	ORPHA:412057
HP:0001288	Gait disturbance	727676	SNORD118	ORPHA:542310
HP:0001288	Gait disturbance	727676	SNORD118	OMIM:614561
HP:0001288	Gait disturbance	60386	SLC25A19	OMIM:613710
HP:0001288	Gait disturbance	84466	MEGF10	OMIM:620249
HP:0001288	Gait disturbance	23259	DDHD2	ORPHA:320380
HP:0001288	Gait disturbance	1073	CFL2	OMIM:610687
HP:0001288	Gait disturbance	1073	CFL2	ORPHA:171436
HP:0001288	Gait disturbance	8139	GAN	ORPHA:643
HP:0001288	Gait disturbance	4914	NTRK1	ORPHA:642
HP:0001288	Gait disturbance	80217	CFAP43	OMIM:236690
HP:0001288	Gait disturbance	3839	KPNA3	ORPHA:171612
HP:0001288	Gait disturbance	9927	MFN2	OMIM:617087
HP:0001288	Gait disturbance	9927	MFN2	ORPHA:2398
HP:0001288	Gait disturbance	125170	MIEF2	OMIM:619024
HP:0001288	Gait disturbance	2896	GRN	ORPHA:275864
HP:0001288	Gait disturbance	54664	TMEM106B	ORPHA:275864
HP:0001288	Gait disturbance	4137	MAPT	ORPHA:275864
HP:0001288	Gait disturbance	54209	TREM2	ORPHA:275864
HP:0001288	Gait disturbance	54209	TREM2	OMIM:618193
HP:0001288	Gait disturbance	3708	ITPR1	OMIM:206700
HP:0001288	Gait disturbance	3708	ITPR1	OMIM:117360
HP:0001288	Gait disturbance	3708	ITPR1	OMIM:606658
HP:0001288	Gait disturbance	6622	SNCA	OMIM:168601
HP:0001288	Gait disturbance	10299	MARCHF6	OMIM:613608
HP:0001288	Gait disturbance	60481	ELOVL5	ORPHA:423296
HP:0001288	Gait disturbance	25792	CIZ1	ORPHA:420492
HP:0001288	Gait disturbance	7421	VDR	ORPHA:93160
HP:0001288	Gait disturbance	7421	VDR	OMIM:277440
HP:0001288	Gait disturbance	23769	FLRT1	ORPHA:320406
HP:0001288	Gait disturbance	64837	KLC2	ORPHA:320406
HP:0001288	Gait disturbance	6535	SLC6A8	OMIM:300352
HP:0001288	Gait disturbance	57165	GJC2	ORPHA:320401
HP:0001288	Gait disturbance	8838	CCN6	OMIM:208230
HP:0001288	Gait disturbance	55532	SLC30A10	ORPHA:309854
HP:0001288	Gait disturbance	80821	DDHD1	OMIM:609340
HP:0001288	Gait disturbance	1593	CYP27A1	OMIM:213700
HP:0001288	Gait disturbance	1593	CYP27A1	ORPHA:909
HP:0001288	Gait disturbance	4747	NEFL	ORPHA:99939
HP:0001288	Gait disturbance	4747	NEFL	OMIM:607684
HP:0001288	Gait disturbance	4747	NEFL	OMIM:617882
HP:0001288	Gait disturbance	7138	TNNT1	OMIM:620389
HP:0001288	Gait disturbance	200205	IBA57	ORPHA:468661
HP:0001288	Gait disturbance	58	ACTA1	ORPHA:171436
HP:0001288	Gait disturbance	58	ACTA1	ORPHA:171433
HP:0001288	Gait disturbance	58	ACTA1	ORPHA:171439
HP:0001288	Gait disturbance	10324	KLHL41	ORPHA:171436
HP:0001288	Gait disturbance	10324	KLHL41	ORPHA:171433
HP:0001288	Gait disturbance	10324	KLHL41	ORPHA:171439
HP:0001288	Gait disturbance	56203	LMOD3	ORPHA:171436
HP:0001288	Gait disturbance	7170	TPM3	ORPHA:171433
HP:0001288	Gait disturbance	7170	TPM3	ORPHA:171439
HP:0001288	Gait disturbance	2314	FLII	ORPHA:819
HP:0001288	Gait disturbance	23096	IQSEC2	ORPHA:819
HP:0001288	Gait disturbance	10743	RAI1	ORPHA:819
HP:0001288	Gait disturbance	10522	DEAF1	ORPHA:819
HP:0001288	Gait disturbance	10522	DEAF1	OMIM:615828
HP:0001288	Gait disturbance	4758	NEU1	ORPHA:812
HP:0001288	Gait disturbance	2673	GFPT1	ORPHA:353327
HP:0001288	Gait disturbance	1798	DPAGT1	ORPHA:353327
HP:0001288	Gait disturbance	85365	ALG2	ORPHA:353327
HP:0001288	Gait disturbance	1146	CHRNG	OMIM:265000
HP:0001288	Gait disturbance	1146	CHRNG	ORPHA:2990
HP:0001288	Gait disturbance	84992	PIGY	ORPHA:247262
HP:0001288	Gait disturbance	84720	PIGO	ORPHA:247262
HP:0001288	Gait disturbance	93210	PGAP3	ORPHA:247262
HP:0001288	Gait disturbance	284098	PIGW	ORPHA:247262
HP:0001288	Gait disturbance	27315	PGAP2	ORPHA:247262
HP:0001288	Gait disturbance	55650	PIGV	ORPHA:247262
HP:0001288	Gait disturbance	9487	PIGL	ORPHA:247262
HP:0001288	Gait disturbance	84876	ORAI1	OMIM:612782
HP:0001288	Gait disturbance	55157	DARS2	ORPHA:137898
HP:0001288	Gait disturbance	6575	SLC20A2	OMIM:213600
HP:0001288	Gait disturbance	5159	PDGFRB	OMIM:213600
HP:0001288	Gait disturbance	5155	PDGFB	OMIM:213600
HP:0001288	Gait disturbance	5155	PDGFB	ORPHA:2495
HP:0001288	Gait disturbance	7072	TIA1	ORPHA:603
HP:0001288	Gait disturbance	5190	PEX6	ORPHA:95433
HP:0001288	Gait disturbance	5190	PEX6	OMIM:614863
HP:0001288	Gait disturbance	8398	PLA2G6	ORPHA:35069
HP:0001288	Gait disturbance	9782	MATR3	ORPHA:600
HP:0001288	Gait disturbance	10558	SPTLC1	OMIM:620285
HP:0001288	Gait disturbance	10558	SPTLC1	ORPHA:300605
HP:0001288	Gait disturbance	2332	FMR1	ORPHA:93256
HP:0001288	Gait disturbance	823	CAPN1	OMIM:616907
HP:0001288	Gait disturbance	22	ABCB7	OMIM:301310
HP:0001288	Gait disturbance	7274	TTPA	ORPHA:96
HP:0001288	Gait disturbance	7274	TTPA	OMIM:277460
HP:0001288	Gait disturbance	57531	HACE1	ORPHA:464282
HP:0001288	Gait disturbance	10367	MICU1	ORPHA:401768
HP:0001288	Gait disturbance	10367	MICU1	OMIM:615673
HP:0001288	Gait disturbance	6687	SPG7	OMIM:607259
HP:0001288	Gait disturbance	80856	LNPK	OMIM:618090
HP:0001288	Gait disturbance	26278	SACS	ORPHA:98
HP:0001288	Gait disturbance	8557	TCAP	OMIM:601954
HP:0001288	Gait disturbance	65998	ZFTA	ORPHA:251636
HP:0001288	Gait disturbance	10352	WARS2	ORPHA:572798
HP:0001288	Gait disturbance	9896	FIG4	OMIM:611228
HP:0001288	Gait disturbance	57338	JPH3	ORPHA:98934
HP:0001288	Gait disturbance	5255	PHKA1	ORPHA:715
HP:0001288	Gait disturbance	5260	PHKG1	ORPHA:715
HP:0001288	Gait disturbance	4359	MPZ	ORPHA:3115
HP:0001288	Gait disturbance	3752	KCND3	ORPHA:98772
HP:0001288	Gait disturbance	23299	BICD2	ORPHA:363454
HP:0001288	Gait disturbance	84138	SLC7A6OS	OMIM:619191
HP:0001288	Gait disturbance	8905	AP1S2	ORPHA:85335
HP:0001288	Gait disturbance	8905	AP1S2	ORPHA:85329
HP:0001288	Gait disturbance	54840	APTX	ORPHA:1168
HP:0001288	Gait disturbance	8239	USP9X	ORPHA:480880
HP:0001288	Gait disturbance	540	ATP7B	ORPHA:905
HP:0001288	Gait disturbance	6804	STX1A	ORPHA:904
HP:0001288	Gait disturbance	7461	CLIP2	ORPHA:904
HP:0001288	Gait disturbance	84277	DNAJC30	ORPHA:904
HP:0001288	Gait disturbance	8468	FKBP6	ORPHA:904
HP:0001288	Gait disturbance	5982	RFC2	ORPHA:904
HP:0001288	Gait disturbance	2969	GTF2I	ORPHA:904
HP:0001288	Gait disturbance	3984	LIMK1	ORPHA:904
HP:0001288	Gait disturbance	9569	GTF2IRD1	ORPHA:904
HP:0001288	Gait disturbance	155382	VPS37D	ORPHA:904
HP:0001288	Gait disturbance	155368	METTL27	ORPHA:904
HP:0001288	Gait disturbance	114049	BUD23	ORPHA:904
HP:0001288	Gait disturbance	7458	EIF4H	ORPHA:904
HP:0001288	Gait disturbance	84163	GTF2IRD2	ORPHA:904
HP:0001288	Gait disturbance	26608	TBL2	ORPHA:904
HP:0001288	Gait disturbance	653361	NCF1	ORPHA:904
HP:0001288	Gait disturbance	135886	TMEM270	ORPHA:904
HP:0001288	Gait disturbance	9031	BAZ1B	ORPHA:904
HP:0001288	Gait disturbance	2006	ELN	ORPHA:904
HP:0001288	Gait disturbance	8314	BAP1	ORPHA:2495
HP:0001288	Gait disturbance	4771	NF2	ORPHA:2495
HP:0001288	Gait disturbance	6598	SMARCB1	ORPHA:2495
HP:0001288	Gait disturbance	84231	TRAF7	ORPHA:2495
HP:0001288	Gait disturbance	6608	SMO	ORPHA:2495
HP:0001288	Gait disturbance	207	AKT1	ORPHA:2495
HP:0001288	Gait disturbance	7015	TERT	ORPHA:2495
HP:0001288	Gait disturbance	6605	SMARCE1	ORPHA:2495
HP:0001288	Gait disturbance	90624	LYRM7	OMIM:615838
HP:0001288	Gait disturbance	146057	TTBK2	ORPHA:98767
HP:0001288	Gait disturbance	3748	KCNC3	ORPHA:98768
HP:0001288	Gait disturbance	54499	TMCO1	OMIM:213980
HP:0001288	Gait disturbance	2259	FGF14	ORPHA:98764
HP:0001288	Gait disturbance	80025	PANK2	OMIM:234200
HP:0001288	Gait disturbance	80025	PANK2	ORPHA:216873
HP:0001288	Gait disturbance	80025	PANK2	ORPHA:216866
HP:0001288	Gait disturbance	25894	PLEKHG4	ORPHA:98765
HP:0001288	Gait disturbance	6712	SPTBN2	ORPHA:98766
HP:0001288	Gait disturbance	10613	ERLIN1	ORPHA:401785
HP:0001288	Gait disturbance	10613	ERLIN1	OMIM:615681
HP:0001288	Gait disturbance	5521	PPP2R2B	ORPHA:98762
HP:0001288	Gait disturbance	10280	SIGMAR1	ORPHA:300605
HP:0001288	Gait disturbance	255928	SYT14	ORPHA:284271
HP:0001288	Gait disturbance	255928	SYT14	OMIM:614229
HP:0001288	Gait disturbance	5165	PDK3	ORPHA:352675
HP:0001288	Gait disturbance	11149	POPDC1	OMIM:616812
HP:0001288	Gait disturbance	84033	OBSCN	ORPHA:99845
HP:0001288	Gait disturbance	23175	LPIN1	ORPHA:99845
HP:0001288	Gait disturbance	6908	TBP	ORPHA:98759
HP:0001288	Gait disturbance	8106	PABPN1	OMIM:164300
HP:0001288	Gait disturbance	8565	YARS1	OMIM:608323
HP:0001288	Gait disturbance	23204	ARL6IP1	ORPHA:401780
HP:0001288	Gait disturbance	6310	ATXN1	ORPHA:98755
HP:0001288	Gait disturbance	8573	CASK	ORPHA:163937
HP:0001288	Gait disturbance	3300	DNAJB2	OMIM:614881
HP:0001288	Gait disturbance	84665	MYPN	ORPHA:171439
HP:0001288	Gait disturbance	10815	CPLX1	ORPHA:352582
HP:0001288	Gait disturbance	57465	TBC1D24	ORPHA:352582
HP:0001288	Gait disturbance	2273	FHL1	ORPHA:98863
HP:0001288	Gait disturbance	2273	FHL1	OMIM:300280
HP:0001288	Gait disturbance	2010	EMD	ORPHA:98863
HP:0001288	Gait disturbance	79158	GNPTAB	ORPHA:423461
HP:0001288	Gait disturbance	23479	ISCU	OMIM:255125
HP:0001288	Gait disturbance	3098	HK1	ORPHA:99953
HP:0001288	Gait disturbance	3098	HK1	OMIM:605285
HP:0001288	Gait disturbance	4313	MMP2	OMIM:259600
HP:0001288	Gait disturbance	60681	FKBP10	ORPHA:1149
HP:0001288	Gait disturbance	6253	RTN2	ORPHA:100993
HP:0001288	Gait disturbance	55023	PHIP	ORPHA:589905
HP:0001288	Gait disturbance	23503	ZFYVE26	ORPHA:100996
HP:0001288	Gait disturbance	57716	PRX	OMIM:614895
HP:0001288	Gait disturbance	51142	CHCHD2	OMIM:616710
HP:0001288	Gait disturbance	2316	FLNA	OMIM:309350
HP:0001288	Gait disturbance	3897	L1CAM	ORPHA:2466
HP:0001288	Gait disturbance	137492	VPS37A	OMIM:614898
HP:0001288	Gait disturbance	54332	GDAP1	ORPHA:99944
HP:0001288	Gait disturbance	9230	RAB11B	OMIM:617807
HP:0001288	Gait disturbance	10535	RNASEH2A	ORPHA:51
HP:0001288	Gait disturbance	84153	RNASEH2C	ORPHA:51
HP:0001288	Gait disturbance	25939	SAMHD1	ORPHA:51
HP:0001288	Gait disturbance	79621	RNASEH2B	ORPHA:51
HP:0001288	Gait disturbance	11277	TREX1	ORPHA:51
HP:0001288	Gait disturbance	100147744	RNU7-1	ORPHA:51
HP:0001288	Gait disturbance	134353	LSM11	ORPHA:51
HP:0001288	Gait disturbance	64135	IFIH1	ORPHA:51
HP:0001288	Gait disturbance	219285	SAMD9L	ORPHA:2585
HP:0001288	Gait disturbance	3720	JARID2	OMIM:620098
HP:0001288	Gait disturbance	79188	TMEM43	ORPHA:98853
HP:0001288	Gait disturbance	23224	SYNE2	ORPHA:98853
HP:0001288	Gait disturbance	8729	GBF1	OMIM:606483
HP:0001288	Gait disturbance	51062	ATL1	ORPHA:100984
HP:0001288	Gait disturbance	9897	WASHC5	ORPHA:100989
HP:0001288	Gait disturbance	579	NKX3-2	OMIM:613330
HP:0001288	Gait disturbance	123606	NIPA1	ORPHA:100988
HP:0001288	Gait disturbance	4038	LRP4	OMIM:614305
HP:0001288	Gait disturbance	4038	LRP4	OMIM:616304
HP:0001288	Gait disturbance	6571	SLC18A2	ORPHA:352649
HP:0001288	Gait disturbance	274	BIN1	ORPHA:169189
HP:0001288	Gait disturbance	64419	MTMR14	ORPHA:169189
HP:0001288	Gait disturbance	4618	MYF6	ORPHA:169189
HP:0001288	Gait disturbance	1785	DNM2	ORPHA:169189
HP:0001288	Gait disturbance	59341	TRPV4	ORPHA:93314
HP:0001288	Gait disturbance	4148	MATN3	ORPHA:93311
HP:0001288	Gait disturbance	80207	OPA3	ORPHA:67047
HP:0001288	Gait disturbance	125988	MICOS13	ORPHA:67047
HP:0001288	Gait disturbance	113179	ADAT3	ORPHA:363528
HP:0001288	Gait disturbance	6652	SORD	OMIM:618912
HP:0001288	Gait disturbance	80347	COASY	OMIM:615643
HP:0001288	Gait disturbance	80347	COASY	ORPHA:397725
HP:0001288	Gait disturbance	3035	HARS1	ORPHA:488333
HP:0001288	Gait disturbance	3035	HARS1	OMIM:616625
HP:0001288	Gait disturbance	1311	COMP	ORPHA:93308
HP:0001288	Gait disturbance	51218	GLRX5	OMIM:616859
HP:0001288	Gait disturbance	3920	LAMP2	ORPHA:34587
HP:0001288	Gait disturbance	84679	SLC9A7	OMIM:301024
HP:0001288	Gait disturbance	2592	GALT	ORPHA:79239
HP:0001288	Gait disturbance	2895	GRID2	ORPHA:363432
HP:0001288	Gait disturbance	3315	HSPB1	OMIM:608634
HP:0001288	Gait disturbance	23732	FRRS1L	OMIM:616981
HP:0001288	Gait disturbance	10908	PNPLA6	OMIM:612020
HP:0001288	Gait disturbance	1778	DYNC1H1	OMIM:614563
HP:0001288	Gait disturbance	1737	DLAT	ORPHA:79244
HP:0001288	Gait disturbance	4566	MT-TK	ORPHA:1349
HP:0001288	Gait disturbance	57599	WDR48	ORPHA:401800
HP:0001288	Gait disturbance	7453	WARS1	OMIM:617721
HP:0001288	Gait disturbance	57545	CC2D2A	ORPHA:1454
HP:0001288	Gait disturbance	57449	PLEKHG5	OMIM:611067
HP:0001288	Gait disturbance	128989	TANGO2	OMIM:616878
HP:0001288	Gait disturbance	27010	TPK1	OMIM:614458
HP:0001288	Gait disturbance	81790	RNF170	OMIM:608984
HP:0001288	Gait disturbance	953	ENTPD1	ORPHA:401810
HP:0001288	Gait disturbance	953	ENTPD1	OMIM:615683
HP:0001288	Gait disturbance	6197	RPS6KA3	ORPHA:192
HP:0001288	Gait disturbance	7874	USP7	ORPHA:500055
HP:0001288	Gait disturbance	340075	ARSI	ORPHA:401815
HP:0001288	Gait disturbance	8988	HSPB3	OMIM:613376
HP:0001288	Gait disturbance	22948	CCT5	ORPHA:139578
HP:0001288	Gait disturbance	2548	GAA	OMIM:232300
HP:0001288	Gait disturbance	10382	TUBB4A	ORPHA:98805
HP:0001288	Gait disturbance	9935	MAFB	ORPHA:2774
HP:0001288	Gait disturbance	80055	PGAP1	ORPHA:401820
HP:0001288	Gait disturbance	92335	STRADA	OMIM:611087
HP:0001288	Gait disturbance	271	AMPD2	OMIM:615686
HP:0001288	Gait disturbance	4649	MYO9A	ORPHA:98914
HP:0001288	Gait disturbance	1305	COL13A1	ORPHA:98914
HP:0001288	Gait disturbance	1103	CHAT	ORPHA:98914
HP:0001288	Gait disturbance	6576	SLC25A1	ORPHA:98914
HP:0001288	Gait disturbance	375790	AGRN	ORPHA:98914
HP:0001288	Gait disturbance	127833	SYT2	ORPHA:98914
HP:0001288	Gait disturbance	10342	TFG	OMIM:604484
HP:0001288	Gait disturbance	9499	MYOT	ORPHA:98911
HP:0001288	Gait disturbance	11155	LDB3	ORPHA:98912
HP:0001288	Gait disturbance	10717	AP4B1	ORPHA:280763
HP:0001288	Gait disturbance	9179	AP4M1	ORPHA:280763
HP:0001288	Gait disturbance	11154	AP4S1	ORPHA:280763
HP:0001288	Gait disturbance	23431	AP4E1	ORPHA:280763
HP:0001288	Gait disturbance	210	ALAD	ORPHA:100924
HP:0001288	Gait disturbance	7518	XRCC4	OMIM:616541
HP:0001288	Gait disturbance	8575	PRKRA	OMIM:612067
HP:0001288	Gait disturbance	51099	ABHD5	ORPHA:98907
HP:0001288	Gait disturbance	81545	FBXO38	OMIM:615575
HP:0001288	Gait disturbance	1674	DES	ORPHA:98909
HP:0001288	Gait disturbance	27249	MMADHC	ORPHA:79283
HP:0001288	Gait disturbance	9439	MED23	OMIM:614249
HP:0001288	Gait disturbance	4621	MYH3	ORPHA:2990
HP:0001288	Gait disturbance	9451	EIF2AK3	ORPHA:1667
HP:0001288	Gait disturbance	79583	TMEM231	ORPHA:2754
HP:0001288	Gait disturbance	10210	TOPORS	ORPHA:2754
HP:0001288	Gait disturbance	51259	TMEM216	ORPHA:2754
HP:0001288	Gait disturbance	317662	FAM149B1	ORPHA:2754
HP:0001288	Gait disturbance	374654	KIF7	ORPHA:2754
HP:0001288	Gait disturbance	84706	GPT2	ORPHA:477673
HP:0001288	Gait disturbance	1968	EIF2S3	OMIM:300148
HP:0001288	Gait disturbance	7305	TYROBP	OMIM:221770
HP:0001288	Gait disturbance	51763	INPP5K	OMIM:617404
HP:0001288	Gait disturbance	9570	GOSR2	OMIM:614018
HP:0001288	Gait disturbance	4322	MMP13	ORPHA:2501
HP:0001288	Gait disturbance	267010	RNU12	ORPHA:512260
HP:0001288	Gait disturbance	3736	KCNA1	OMIM:160120
HP:0001288	Gait disturbance	3736	KCNA1	ORPHA:972
HP:0001288	Gait disturbance	4099	MAG	OMIM:616680
HP:0001288	Gait disturbance	324	APC	ORPHA:261584
HP:0001288	Gait disturbance	57156	TMEM63C	OMIM:619966
HP:0001288	Gait disturbance	547	KIF1A	OMIM:610357
HP:0001288	Gait disturbance	547	KIF1A	ORPHA:101010
HP:0001288	Gait disturbance	9197	SLC33A1	OMIM:612539
HP:0001288	Gait disturbance	9197	SLC33A1	ORPHA:171863
HP:0001288	Gait disturbance	10166	SLC25A15	ORPHA:415
HP:0001288	Gait disturbance	10166	SLC25A15	OMIM:238970
HP:0001288	Gait disturbance	51204	TACO1	OMIM:619052
HP:0001288	Gait disturbance	11145	PLAAT3	OMIM:620683
HP:0001288	Gait disturbance	25778	DSTYK	ORPHA:101003
HP:0001288	Gait disturbance	9420	CYP7B1	OMIM:270800
HP:0001288	Gait disturbance	55703	POLR3B	OMIM:619742
HP:0001288	Gait disturbance	9907	AP5Z1	OMIM:613647
HP:0001288	Gait disturbance	9907	AP5Z1	ORPHA:306511
HP:0001288	Gait disturbance	9895	TECPR2	OMIM:615031
HP:0001288	Gait disturbance	57498	KIDINS220	OMIM:617296
HP:0001288	Gait disturbance	84879	MFSD2A	OMIM:616486
HP:0001288	Gait disturbance	2517	FUCA1	OMIM:230000
HP:0001288	Gait disturbance	80232	WDR26	OMIM:617616
HP:0001288	Gait disturbance	55210	ATAD3A	ORPHA:496790
HP:0001288	Gait disturbance	22978	NT5C2	ORPHA:320396
HP:0001288	Gait disturbance	22978	NT5C2	OMIM:613162
HP:0001288	Gait disturbance	6472	SHMT2	OMIM:619121
HP:0001288	Gait disturbance	79971	WLS	OMIM:619648
HP:0001288	Gait disturbance	9101	USP8	ORPHA:401795
HP:0001288	Gait disturbance	54888	NSUN2	OMIM:611091
HP:0001288	Gait disturbance	8913	CACNA1G	ORPHA:458803
HP:0001288	Gait disturbance	8913	CACNA1G	OMIM:616795
HP:0001288	Gait disturbance	3739	KCNA4	OMIM:618284
HP:0001288	Gait disturbance	3329	HSPD1	OMIM:605280
HP:0001288	Gait disturbance	3329	HSPD1	ORPHA:100994
HP:0001288	Gait disturbance	383	ARG1	OMIM:207800
HP:0001288	Gait disturbance	6683	SPAST	OMIM:182601
HP:0001288	Gait disturbance	51663	ZFR	ORPHA:401840
HP:0001288	Gait disturbance	113612	CYP2U1	ORPHA:320411
HP:0001288	Gait disturbance	171546	SPTSSA	OMIM:620416
HP:0001288	Gait disturbance	10664	CTCF	OMIM:615502
HP:0001288	Gait disturbance	3798	KIF5A	OMIM:604187
HP:0001288	Gait disturbance	10749	KIF1C	ORPHA:397946
HP:0001288	Gait disturbance	10749	KIF1C	OMIM:611302
HP:0001288	Gait disturbance	64374	SIL1	OMIM:248800
HP:0001288	Gait disturbance	8450	CUL4B	OMIM:300354
HP:0001288	Gait disturbance	2643	GCH1	OMIM:128230
HP:0001288	Gait disturbance	2643	GCH1	ORPHA:98808
HP:0001288	Gait disturbance	158	ADSL	OMIM:103050
HP:0001288	Gait disturbance	23646	PLD3	OMIM:617770
HP:0001288	Gait disturbance	146227	BEAN1	OMIM:117210
HP:0001288	Gait disturbance	146227	BEAN1	ORPHA:217012
HP:0001288	Gait disturbance	51126	NAA20	OMIM:619717
HP:0001288	Gait disturbance	9254	CACNA2D2	OMIM:618501
HP:0001288	Gait disturbance	85300	ATCAY	ORPHA:94122
HP:0001288	Gait disturbance	85300	ATCAY	OMIM:601238
HP:0001288	Gait disturbance	4536	MT-ND2	ORPHA:255210
HP:0001288	Gait disturbance	4537	MT-ND3	ORPHA:255210
HP:0001288	Gait disturbance	4577	MT-TV	ORPHA:255210
HP:0001288	Gait disturbance	4983	OPHN1	OMIM:300486
HP:0001288	Gait disturbance	8722	CTSF	OMIM:615362
HP:0001288	Gait disturbance	283489	CHAMP1	OMIM:616579
HP:0001288	Gait disturbance	8309	ACOX2	OMIM:617308
HP:0001288	Gait disturbance	2911	GRM1	OMIM:614831
HP:0001288	Gait disturbance	2911	GRM1	OMIM:617691
HP:0001288	Gait disturbance	2911	GRM1	ORPHA:324262
HP:0001288	Gait disturbance	24142	NAA80	OMIM:620830
HP:0001288	Gait disturbance	28960	DCPS	OMIM:616459
HP:0001288	Gait disturbance	55780	ERMARD	ORPHA:75857
HP:0001288	Gait disturbance	7175	TPR	OMIM:620393
HP:0001288	Gait disturbance	7054	TH	OMIM:605407
HP:0001288	Gait disturbance	7054	TH	ORPHA:101150
HP:0001288	Gait disturbance	57492	ARID1B	OMIM:135900
HP:0001288	Gait disturbance	5119	CHMP1A	OMIM:614961
HP:0001288	Gait disturbance	5173	PDYN	OMIM:610245
HP:0001288	Gait disturbance	5173	PDYN	ORPHA:101108
HP:0001288	Gait disturbance	10939	AFG3L2	OMIM:610246
HP:0001288	Gait disturbance	10939	AFG3L2	ORPHA:101109
HP:0001288	Gait disturbance	10157	AASS	ORPHA:3124
HP:0001288	Gait disturbance	55187	VPS13D	ORPHA:95434
HP:0001288	Gait disturbance	55187	VPS13D	OMIM:607317
HP:0001288	Gait disturbance	27072	VPS41	ORPHA:95434
HP:0001288	Gait disturbance	857	CAV1	OMIM:606721
HP:0001288	Gait disturbance	10935	PRDX3	OMIM:619862
HP:0001288	Gait disturbance	23203	PMPCA	ORPHA:1170
HP:0001288	Gait disturbance	23203	PMPCA	OMIM:213200
HP:0001288	Gait disturbance	5528	PPP2R5D	OMIM:616355
HP:0001288	Gait disturbance	54872	PIGG	ORPHA:488635
HP:0001288	Gait disturbance	2903	GRIN2A	ORPHA:98818
HP:0001288	Gait disturbance	950	SCARB2	OMIM:254900
HP:0001288	Gait disturbance	27235	COQ2	ORPHA:98933
HP:0001288	Gait disturbance	27235	COQ2	ORPHA:227510
HP:0001288	Gait disturbance	2395	FXN	ORPHA:95
HP:0001288	Gait disturbance	2395	FXN	OMIM:229300
HP:0001288	Gait disturbance	9711	RUBCN	OMIM:615705
HP:0001288	Gait disturbance	9711	RUBCN	ORPHA:404499
HP:0001288	Gait disturbance	3475	IFRD1	ORPHA:98771
HP:0001288	Gait disturbance	339453	TMEM240	ORPHA:98773
HP:0001288	Gait disturbance	339453	TMEM240	OMIM:607454
HP:0001288	Gait disturbance	1938	EEF2	OMIM:609306
HP:0001288	Gait disturbance	5518	PPP2R1A	OMIM:616362
HP:0001288	Gait disturbance	253738	EBF3	OMIM:617330
HP:0001288	Gait disturbance	55280	CWF19L1	OMIM:616127
HP:0001288	Gait disturbance	55280	CWF19L1	ORPHA:453521
HP:0001288	Gait disturbance	54902	TTC19	OMIM:615157
HP:0001288	Gait disturbance	5582	PRKCG	ORPHA:98763
HP:0001288	Gait disturbance	5582	PRKCG	OMIM:605361
HP:0001288	Gait disturbance	80704	SLC19A3	OMIM:607483
HP:0001288	Gait disturbance	1822	ATN1	ORPHA:101
HP:0001288	Gait disturbance	724066	ATXN8	ORPHA:98760
HP:0001288	Gait disturbance	6315	ATXN8OS	ORPHA:98760
HP:0001288	Gait disturbance	25814	ATXN10	ORPHA:98761
HP:0001288	Gait disturbance	25814	ATXN10	OMIM:603516
HP:0001288	Gait disturbance	4311	MME	ORPHA:497764
HP:0001288	Gait disturbance	4311	MME	OMIM:617018
HP:0001288	Gait disturbance	2232	FDXR	ORPHA:543470
HP:0001288	Gait disturbance	7222	TRPC3	ORPHA:458798
HP:0001288	Gait disturbance	7222	TRPC3	OMIM:616410
HP:0001288	Gait disturbance	59336	PRDM13	OMIM:619761
HP:0001288	Gait disturbance	5192	PEX10	OMIM:614871
HP:0001288	Gait disturbance	1356	CP	ORPHA:48818
HP:0001288	Gait disturbance	23261	CAMTA1	OMIM:614756
HP:0001288	Gait disturbance	9409	PEX16	OMIM:614877
HP:0001288	Gait disturbance	6311	ATXN2	ORPHA:98756
HP:0001288	Gait disturbance	84919	PPP1R15B	OMIM:616817
HP:0001288	Gait disturbance	6925	TCF4	OMIM:610954
HP:0001288	Gait disturbance	6925	TCF4	ORPHA:2896
HP:0001288	Gait disturbance	5981	RFC1	ORPHA:504476
HP:0001288	Gait disturbance	5981	RFC1	OMIM:614575
HP:0001288	Gait disturbance	4677	NARS1	OMIM:619092
HP:0001288	Gait disturbance	55739	NAXD	OMIM:618321
HP:0001288	Gait disturbance	9922	IQSEC1	OMIM:618687
HP:0001288	Gait disturbance	55149	MTPAP	OMIM:613672
HP:0001288	Gait disturbance	2055	CLN8	ORPHA:1947
HP:0001288	Gait disturbance	404672	GTF2H5	ORPHA:33364
HP:0001288	Gait disturbance	833	CARS1	ORPHA:33364
HP:0001288	Gait disturbance	2068	ERCC2	ORPHA:33364
HP:0001288	Gait disturbance	7737	RNF113A	ORPHA:33364
HP:0001288	Gait disturbance	7737	RNF113A	OMIM:300953
HP:0001288	Gait disturbance	136647	MPLKIP	ORPHA:33364
HP:0001288	Gait disturbance	6897	TARS1	ORPHA:33364
HP:0001288	Gait disturbance	2071	ERCC3	ORPHA:33364
HP:0001288	Gait disturbance	2961	GTF2E2	ORPHA:33364
HP:0001288	Gait disturbance	3954	LETM1	OMIM:620089
HP:0001288	Gait disturbance	1487	CTBP1	OMIM:617915
HP:0001288	Gait disturbance	6595	SMARCA2	OMIM:601358
HP:0001288	Gait disturbance	5111	PCNA	ORPHA:438134
HP:0001288	Gait disturbance	57410	SCYL1	OMIM:616719
HP:0001288	Gait disturbance	57410	SCYL1	ORPHA:466794
HP:0001288	Gait disturbance	54704	PDP1	OMIM:608782
HP:0001288	Gait disturbance	6134	RPL10	OMIM:300998
HP:0001288	Gait disturbance	92935	MARS2	OMIM:611390
HP:0001288	Gait disturbance	92935	MARS2	ORPHA:314603
HP:0001288	Gait disturbance	1173	AP2M1	OMIM:618587
HP:0001288	Gait disturbance	57102	FERRY3	OMIM:618221
HP:0001288	Gait disturbance	10765	KDM5B	OMIM:618109
HP:0001288	Gait disturbance	4967	OGDH	OMIM:203740
HP:0001288	Gait disturbance	51117	COQ4	OMIM:620666
HP:0001288	Gait disturbance	6548	SLC9A1	OMIM:616291
HP:0001288	Gait disturbance	23102	TBC1D2B	OMIM:619323
HP:0001288	Gait disturbance	440193	CCDC88C	OMIM:616053
HP:0001288	Gait disturbance	440193	CCDC88C	ORPHA:423275
HP:0001288	Gait disturbance	4081	MAB21L1	OMIM:618479
HP:0001288	Gait disturbance	25885	POLR1A	OMIM:620675
HP:0001288	Gait disturbance	2891	GRIA2	OMIM:618917
HP:0001288	Gait disturbance	5994	RFXAP	ORPHA:572
HP:0001288	Gait disturbance	4261	CIITA	ORPHA:572
HP:0001288	Gait disturbance	5993	RFX5	ORPHA:572
HP:0001288	Gait disturbance	8625	RFXANK	ORPHA:572
HP:0001288	Gait disturbance	1181	CLCN2	OMIM:615651
HP:0001288	Gait disturbance	4125	MAN2B1	OMIM:248500
HP:0001288	Gait disturbance	91137	SLC25A46	OMIM:616505
HP:0001288	Gait disturbance	361	AQP4	OMIM:620448
HP:0001288	Gait disturbance	54974	THG1L	OMIM:618800
HP:0001288	Gait disturbance	9675	TTI1	OMIM:620445
HP:0001288	Gait disturbance	4864	NPC1	OMIM:257220
HP:0001288	Gait disturbance	4361	MRE11	OMIM:604391
HP:0001288	Gait disturbance	4361	MRE11	ORPHA:251347
HP:0001288	Gait disturbance	3119	HLA-DQB1	OMIM:123400
HP:0001288	Gait disturbance	20	ABCA2	OMIM:618808
HP:0001288	Gait disturbance	4547	MTTP	ORPHA:14
HP:0001288	Gait disturbance	2898	GRIK2	OMIM:619580
HP:0001288	Gait disturbance	5611	DNAJC3	OMIM:616192
HP:0001288	Gait disturbance	5611	DNAJC3	ORPHA:445062
HP:0001288	Gait disturbance	372	ARCN1	OMIM:617164
HP:0001288	Gait disturbance	23395	LARS2	OMIM:615300
HP:0001288	Gait disturbance	2065	ERBB3	OMIM:243180
HP:0001288	Gait disturbance	9997	SCO2	OMIM:604377
HP:0001288	Gait disturbance	87178	PNPT1	ORPHA:101111
HP:0001288	Gait disturbance	65260	COA7	OMIM:618387
HP:0001288	Gait disturbance	4929	NR4A2	ORPHA:98808
HP:0001288	Gait disturbance	3615	IMPDH2	ORPHA:98808
HP:0001288	Gait disturbance	131669	UROC1	OMIM:276880
HP:0001288	Gait disturbance	131669	UROC1	ORPHA:210128
HP:0001288	Gait disturbance	7345	UCHL1	OMIM:620221
HP:0001288	Gait disturbance	7343	UBTF	ORPHA:500180
HP:0001288	Gait disturbance	9829	DNAJC6	ORPHA:391411
HP:0001288	Gait disturbance	5420	PODXL	ORPHA:391411
HP:0001288	Gait disturbance	5058	PAK1	OMIM:618158
HP:0001288	Gait disturbance	122553	TRAPPC6B	OMIM:617862
HP:0001288	Gait disturbance	7204	TRIO	ORPHA:476126
HP:0001288	Gait disturbance	3295	HSD17B4	OMIM:233400
HP:0001288	Gait disturbance	54676	GTPBP2	OMIM:617988
HP:0001288	Gait disturbance	9516	LITAF	OMIM:601098
HP:0001288	Gait disturbance	5456	POU3F4	ORPHA:1435
HP:0001288	Gait disturbance	10479	SLC9A6	ORPHA:85278
HP:0001288	Gait disturbance	84823	LMNB2	OMIM:616540
HP:0001288	Gait disturbance	7515	XRCC1	OMIM:617633
HP:0001288	Gait disturbance	738	VPS51	OMIM:618606
HP:0001288	Gait disturbance	81615	TMEM163	OMIM:620243
HP:0001288	Gait disturbance	1795	DOCK3	OMIM:618292
HP:0001288	Gait disturbance	129285	PPP1R21	OMIM:619383
HP:0001288	Gait disturbance	84842	HPDL	OMIM:619027
HP:0001288	Gait disturbance	221927	BRAT1	OMIM:618056
HP:0001288	Gait disturbance	2196	FAT2	OMIM:617769
HP:0001288	Gait disturbance	55129	ANO10	OMIM:613728
HP:0001288	Gait disturbance	26277	TINF2	OMIM:268130
HP:0001288	Gait disturbance	11253	MAN1B1	ORPHA:397941
HP:0001288	Gait disturbance	26960	NBEA	OMIM:619157
HP:0001288	Gait disturbance	23314	SATB2	ORPHA:251028
HP:0001288	Gait disturbance	23314	SATB2	OMIM:612313
HP:0001288	Gait disturbance	85358	SHANK3	OMIM:606232
HP:0001288	Gait disturbance	91942	NDUFAF2	OMIM:618233
HP:0001288	Gait disturbance	56521	DNAJC12	OMIM:617384
HP:0001288	Gait disturbance	63895	PIEZO2	OMIM:617146
HP:0001288	Gait disturbance	6492	SIM1	ORPHA:171829
HP:0001288	Gait disturbance	790	CAD	OMIM:616457
HP:0001288	Gait disturbance	1654	DDX3X	ORPHA:457260
HP:0001288	Gait disturbance	1654	DDX3X	OMIM:300958
HP:0001288	Gait disturbance	10847	SRCAP	ORPHA:2044
HP:0001288	Gait disturbance	2132	EXT2	ORPHA:466926
HP:0001288	Gait disturbance	57231	SNX14	ORPHA:397709
HP:0001288	Gait disturbance	4131	MAP1B	OMIM:618918
HP:0001288	Gait disturbance	4297	KMT2A	OMIM:605130
HP:0001288	Gait disturbance	7337	UBE3A	ORPHA:98794
HP:0001288	Gait disturbance	7337	UBE3A	ORPHA:98795
HP:0001288	Gait disturbance	7337	UBE3A	OMIM:105830
HP:0001288	Gait disturbance	7337	UBE3A	ORPHA:411511
HP:0001288	Gait disturbance	7337	UBE3A	ORPHA:411515
HP:0001288	Gait disturbance	4948	OCA2	ORPHA:98794
HP:0001288	Gait disturbance	9289	ADGRG1	OMIM:606854
HP:0001288	Gait disturbance	23321	TRIM2	OMIM:615490
HP:0001288	Gait disturbance	51132	RLIM	OMIM:300978
HP:0001288	Gait disturbance	63035	BCORL1	OMIM:301029
HP:0001288	Gait disturbance	9968	MED12	ORPHA:93932
HP:0001288	Gait disturbance	26007	TKFC	OMIM:618805
HP:0001288	Gait disturbance	9378	NRXN1	OMIM:614325
HP:0001288	Gait disturbance	9839	ZEB2	ORPHA:261552
HP:0001288	Gait disturbance	9839	ZEB2	ORPHA:261537
HP:0001288	Gait disturbance	10087	CERT1	OMIM:616351
HP:0001288	Gait disturbance	7156	TOP3A	OMIM:618098
HP:0001288	Gait disturbance	7067	THRA	OMIM:614450
HP:0001288	Gait disturbance	5813	PURA	ORPHA:438216
HP:0001288	Gait disturbance	5813	PURA	OMIM:616158
HP:0001288	Gait disturbance	2783	GNB2	OMIM:619503
HP:0001288	Gait disturbance	64864	RFX7	OMIM:620330
HP:0001288	Gait disturbance	6445	SGCG	ORPHA:353
HP:0001288	Gait disturbance	84065	TMEM222	OMIM:619470
HP:0001288	Gait disturbance	339983	NAT8L	OMIM:614063
HP:0001288	Gait disturbance	8493	PPM1D	OMIM:617450
HP:0001288	Gait disturbance	8558	CDK10	OMIM:617694
HP:0001288	Gait disturbance	6711	SPTBN1	OMIM:619475
HP:0001288	Gait disturbance	6638	SNRPN	OMIM:105830
HP:0001288	Gait disturbance	6638	SNRPN	ORPHA:411515
HP:0001288	Gait disturbance	8936	WASF1	OMIM:618707
HP:0001288	Gait disturbance	1298	COL9A2	OMIM:600204
HP:0001288	Gait disturbance	9276	COPB2	OMIM:619884
HP:0001288	Gait disturbance	53335	BCL11A	OMIM:617101
HP:0001288	Gait disturbance	57688	ZSWIM6	OMIM:617865
HP:0001288	Gait disturbance	93587	TRMT10A	ORPHA:391408
HP:0001288	Gait disturbance	8241	RBM10	ORPHA:2886
HP:0001288	Gait disturbance	6611	SMS	OMIM:309583
HP:0001288	Gait disturbance	1107	CHD3	OMIM:618205
HP:0001288	Gait disturbance	96459	FNIP1	OMIM:619705
HP:0001288	Gait disturbance	57194	ATP10A	ORPHA:411515
HP:0001288	Gait disturbance	1959	EGR2	OMIM:145900
HP:0001288	Gait disturbance	5830	PEX5	OMIM:616716
HP:0001288	Gait disturbance	23533	PIK3R5	ORPHA:64753
HP:0001288	Gait disturbance	9894	TELO2	ORPHA:488642
HP:0001288	Gait disturbance	5728	PTEN	ORPHA:101070
HP:0001288	Gait disturbance	54828	BCAS3	OMIM:619641
HP:0001288	Gait disturbance	51085	MLXIPL	OMIM:194050
HP:0001288	Gait disturbance	4694	NDUFA1	OMIM:301020
HP:0001288	Gait disturbance	513	ATP5F1D	OMIM:618120
HP:0001288	Gait disturbance	7994	KAT6A	OMIM:616268
HP:0001288	Gait disturbance	1108	CHD4	OMIM:617159
HP:0001288	Gait disturbance	84100	ARL6	OMIM:209900
HP:0001288	Gait disturbance	79140	CCDC28B	OMIM:209900
HP:0001288	Gait disturbance	582	BBS1	OMIM:209900
HP:0001288	Gait disturbance	25793	FBXO7	OMIM:260300
HP:0001288	Gait disturbance	54832	VPS13C	ORPHA:2828
HP:0001288	Gait disturbance	11315	PARK7	ORPHA:2828
HP:0001288	Gait disturbance	27429	HTRA2	ORPHA:2828
HP:0001288	Gait disturbance	120892	LRRK2	ORPHA:2828
HP:0001288	Gait disturbance	65018	PINK1	ORPHA:2828
HP:0001288	Gait disturbance	113278	SLC52A3	OMIM:211530
HP:0001288	Gait disturbance	25923	ATL3	ORPHA:36386
HP:0001288	Gait disturbance	9517	SPTLC2	ORPHA:36386
HP:0001288	Gait disturbance	64132	XYLT2	OMIM:605822
HP:0001288	Gait disturbance	9853	RUSC2	OMIM:617773
HP:0001288	Gait disturbance	7167	TPI1	OMIM:615512
HP:0001288	Gait disturbance	8924	HERC2	OMIM:615516
HP:0001288	Gait disturbance	2617	GARS1	ORPHA:139536
HP:0001288	Gait disturbance	123263	MTFMT	OMIM:614947
HP:0001288	Gait disturbance	5457	POU4F1	ORPHA:314647
HP:0001288	Gait disturbance	6442	SGCA	OMIM:608099
HP:0001288	Gait disturbance	9227	LRAT	ORPHA:364055
HP:0001288	Gait disturbance	55812	SPATA7	ORPHA:364055
HP:0001288	Gait disturbance	6121	RPE65	ORPHA:364055
HP:0001288	Gait disturbance	167691	LCA5	ORPHA:364055
HP:0001288	Gait disturbance	538	ATP7A	OMIM:300489
HP:0001288	Gait disturbance	3145	HMBS	OMIM:620711
HP:0001288	Gait disturbance	318	NUDT2	OMIM:619844
HP:0001288	Gait disturbance	55163	PNPO	ORPHA:79096
HP:0001288	Gait disturbance	55163	PNPO	OMIM:610090
HP:0001288	Gait disturbance	8890	EIF2B4	OMIM:620314
HP:0001288	Gait disturbance	8892	EIF2B2	OMIM:620312
HP:0001288	Gait disturbance	10073	SNUPN	OMIM:620793
HP:0001288	Gait disturbance	54344	DPM3	OMIM:612937
HP:0001288	Gait disturbance	5189	PEX1	OMIM:214100
HP:0001288	Gait disturbance	1725	DHPS	OMIM:618480
HP:0001288	Gait disturbance	10735	STAG2	OMIM:301022
HP:0001288	Gait disturbance	8888	MCM3AP	OMIM:618124
HP:0001288	Gait disturbance	815	CAMK2A	OMIM:617798
HP:0001288	Gait disturbance	1183	CLCN4	ORPHA:485350
HP:0001288	Gait disturbance	64919	BCL11B	OMIM:618092
HP:0001288	Gait disturbance	8802	SUCLG1	ORPHA:17
HP:0001288	Gait disturbance	56479	KCNQ5	OMIM:617601
HP:0001288	Gait disturbance	492	ATP2B3	ORPHA:314978
HP:0001288	Gait disturbance	492	ATP2B3	OMIM:302500
HP:0001288	Gait disturbance	4247	MGAT2	OMIM:212066
HP:0001288	Gait disturbance	121512	FGD4	OMIM:609311
HP:0001288	Gait disturbance	55697	VAC14	OMIM:617054
HP:0001288	Gait disturbance	10846	PDE10A	ORPHA:494526
HP:0001288	Gait disturbance	10846	PDE10A	OMIM:616921
HP:0001288	Gait disturbance	2033	EP300	OMIM:180849
HP:0001288	Gait disturbance	1387	CREBBP	OMIM:180849
HP:0001288	Gait disturbance	5828	PEX2	OMIM:614867
HP:0001288	Gait disturbance	8659	ALDH4A1	ORPHA:79101
HP:0001288	Gait disturbance	8050	PDHX	OMIM:245349
HP:0001288	Gait disturbance	22983	MAST1	OMIM:618273
HP:0001288	Gait disturbance	54870	QRICH1	OMIM:617982
HP:0001288	Gait disturbance	4076	CAPRIN1	OMIM:620636
HP:0001288	Gait disturbance	10531	PITRM1	OMIM:619405
HP:0001288	Gait disturbance	23162	MAPK8IP3	OMIM:618443
HP:0001288	Gait disturbance	84631	SLITRK2	OMIM:301107
HP:0001288	Gait disturbance	122622	ADSS1	ORPHA:482601
HP:0001288	Gait disturbance	875	CBS	OMIM:236200
HP:0001288	Gait disturbance	1384	CRAT	OMIM:617917
HP:0001288	Gait disturbance	200403	VWA3B	OMIM:616948
HP:0001288	Gait disturbance	6513	SLC2A1	ORPHA:1942
HP:0001288	Gait disturbance	340533	NEXMIF	ORPHA:1942
HP:0001288	Gait disturbance	1106	CHD2	ORPHA:1942
HP:0001288	Gait disturbance	6529	SLC6A1	ORPHA:1942
HP:0001288	Gait disturbance	55690	PACS1	ORPHA:329224
HP:0001288	Gait disturbance	8449	DHX16	OMIM:618733
HP:0001288	Gait disturbance	8242	KDM5C	OMIM:300534
HP:0001288	Gait disturbance	23317	DNAJC13	ORPHA:411602
HP:0001288	Gait disturbance	1981	EIF4G1	ORPHA:411602
HP:0001288	Gait disturbance	55737	VPS35	ORPHA:411602
HP:0001288	Gait disturbance	26058	GIGYF2	ORPHA:411602
HP:0001288	Gait disturbance	116442	RAB39B	OMIM:311510
HP:0001288	Gait disturbance	9217	VAPB	ORPHA:209335
HP:0001288	Gait disturbance	1678	TIMM8A	ORPHA:52368
HP:0001288	Gait disturbance	10269	ZMPSTE24	ORPHA:740
HP:0001288	Gait disturbance	5575	PRKAR1B	ORPHA:412066
HP:0001288	Gait disturbance	8260	NAA10	ORPHA:276432
HP:0001288	Gait disturbance	1144	CHRND	OMIM:616321
HP:0001288	Gait disturbance	53616	ADAM22	OMIM:617933
HP:0001288	Gait disturbance	5339	PLEC	ORPHA:254361
HP:0001288	Gait disturbance	3714	JAG2	OMIM:619566
HP:0001288	Gait disturbance	8893	EIF2B5	OMIM:620315
HP:0001288	Gait disturbance	8891	EIF2B3	OMIM:620313
HP:0001288	Gait disturbance	64601	VPS16	OMIM:619291
HP:0001288	Gait disturbance	64207	IRF2BPL	OMIM:618088
HP:0001288	Gait disturbance	2058	EPRS1	OMIM:617951
HP:0001288	Gait disturbance	51704	GPRC5B	OMIM:620447
HP:0001288	Gait disturbance	4700	NDUFA6	OMIM:618253
HP:0001288	Gait disturbance	60	ACTB	OMIM:607371
HP:0001288	Gait disturbance	1201	CLN3	OMIM:204200
HP:0001288	Gait disturbance	84668	HYCC1	OMIM:610532
HP:0001288	Gait disturbance	3028	HSD17B10	ORPHA:391428
HP:0001288	Gait disturbance	9453	GGPS1	OMIM:619518
HP:0001288	Gait disturbance	6607	SMN2	OMIM:253400
HP:0001288	Gait disturbance	10667	FARS2	ORPHA:466722
HP:0001288	Gait disturbance	56983	POGLUT1	OMIM:617232
HP:0001288	Gait disturbance	1203	CLN5	OMIM:256731
HP:0001288	Gait disturbance	6392	SDHD	ORPHA:3208
HP:0001288	Gait disturbance	644096	SDHAF1	ORPHA:3208
HP:0001288	Gait disturbance	6240	RRM1	OMIM:620647
HP:0001288	Gait disturbance	8799	PEX11B	OMIM:614920
HP:0001288	Gait disturbance	85021	REPS1	OMIM:617916
HP:0001288	Gait disturbance	3156	HMGCR	OMIM:620375
HP:0001288	Gait disturbance	11128	POLR3A	OMIM:607694
HP:0001288	Gait disturbance	10290	SPEG	ORPHA:169186
HP:0001288	Gait disturbance	7528	YY1	ORPHA:506358
HP:0001288	Gait disturbance	7528	YY1	OMIM:617557
HP:0001288	Gait disturbance	57190	SELENON	ORPHA:97244
HP:0001288	Gait disturbance	91452	ACBD5	OMIM:618863
HP:0001288	Gait disturbance	4593	MUSK	OMIM:616325
HP:0001288	Gait disturbance	6606	SMN1	OMIM:271150
HP:0001288	Gait disturbance	7109	TRAPPC10	OMIM:620027
HP:0001288	Gait disturbance	10049	DNAJB6	OMIM:603511
HP:0001288	Gait disturbance	1120	CHKB	OMIM:602541
HP:0001288	Gait disturbance	1836	SLC26A2	ORPHA:93307
HP:0001288	Gait disturbance	55033	FKBP14	OMIM:614557
HP:0001288	Gait disturbance	9200	HACD1	OMIM:619967
HP:0001288	Gait disturbance	1297	COL9A1	ORPHA:166002
HP:0001288	Gait disturbance	1299	COL9A3	ORPHA:166002
HP:0001288	Gait disturbance	3417	IDH1	ORPHA:99646
HP:0001288	Gait disturbance	7125	TNNC2	OMIM:620161
HP:0001288	Gait disturbance	5251	PHEX	OMIM:307800
HP:0001288	Gait disturbance	1300	COL10A1	ORPHA:174
HP:0001288	Gait disturbance	1300	COL10A1	OMIM:156500
HP:0001288	Gait disturbance	9469	CHST3	ORPHA:263463
HP:0001288	Gait disturbance	9469	CHST3	OMIM:143095
HP:0001288	Gait disturbance	7040	TGFB1	OMIM:131300
HP:0001288	Gait disturbance	7040	TGFB1	ORPHA:1328
HP:0001288	Gait disturbance	9581	PREPL	OMIM:616224
HP:0001288	Gait disturbance	176	ACAN	OMIM:165800
HP:0001288	Gait disturbance	9241	NOG	OMIM:186500
HP:0001288	Gait disturbance	4620	MYH2	OMIM:605637
HP:0001288	Gait disturbance	633	BGN	OMIM:300106
HP:0001288	Gait disturbance	4041	LRP5	ORPHA:2788
HP:0001288	Gait disturbance	3908	LAMA2	OMIM:618138
HP:0001288	Gait disturbance	8425	LTBP4	ORPHA:98896
HP:0001288	Gait disturbance	2335	FN1	OMIM:184255
HP:0001288	Gait disturbance	388662	SLC6A17	ORPHA:457212
HP:0001288	Gait disturbance	388662	SLC6A17	OMIM:616269
HP:0001288	Gait disturbance	23126	POGZ	OMIM:616364
HP:0001288	Gait disturbance	2588	GALNS	OMIM:253000
HP:0001288	Gait disturbance	55325	UFSP2	OMIM:617974
HP:0001288	Gait disturbance	4744	NEFH	OMIM:616924
HP:0001288	Gait disturbance	8720	MBTPS1	OMIM:618392
HP:0001288	Gait disturbance	8292	COLQ	ORPHA:98915
HP:0001288	Gait disturbance	3913	LAMB2	ORPHA:98915
HP:0001288	Gait disturbance	50485	SMARCAL1	OMIM:242900
HP:0001288	Gait disturbance	124583	CANT1	OMIM:251450
HP:0001288	Gait disturbance	3178	HNRNPA1	ORPHA:52430
HP:0001288	Gait disturbance	3181	HNRNPA2B1	ORPHA:52430
HP:0001288	Gait disturbance	5745	PTH1R	OMIM:156400
HP:0001288	Gait disturbance	6569	SLC34A1	ORPHA:157215
HP:0001288	Gait disturbance	249	ALPL	OMIM:241510
HP:0001288	Gait disturbance	51776	MAP3K20	OMIM:617760
HP:0001288	Gait disturbance	91252	SLC39A13	OMIM:612350
HP:0001288	Gait disturbance	25886	POC1A	OMIM:614813
HP:0001288	Gait disturbance	285489	DOK7	OMIM:254300
HP:0001288	Gait disturbance	5138	PDE2A	OMIM:619150
HP:0001288	Gait disturbance	5913	RAPSN	OMIM:616326
HP:0001288	Gait disturbance	6418	SET	OMIM:618106
HP:0001288	Gait disturbance	64208	POPDC3	OMIM:618848
HP:0001288	Gait disturbance	5805	PTS	ORPHA:13
HP:0001288	Gait disturbance	6390	SDHB	OMIM:619224
HP:0001288	Gait disturbance	2562	GABRB3	ORPHA:2382
HP:0001288	Gait disturbance	5602	MAPK10	ORPHA:2382
HP:0001288	Gait disturbance	23230	VPS13A	ORPHA:2388
HP:0001288	Gait disturbance	89874	SLC25A21	OMIM:618811
HP:0001288	Gait disturbance	2137	EXTL3	ORPHA:508533
HP:0001288	Gait disturbance	2775	GNAO1	OMIM:615473
HP:0001288	Gait disturbance	7355	SLC35A2	ORPHA:356961
HP:0001288	Gait disturbance	6326	SCN2A	ORPHA:293181
HP:0001288	Gait disturbance	57468	SLC12A5	ORPHA:293181
HP:0001288	Gait disturbance	57468	SLC12A5	OMIM:616645
HP:0001288	Gait disturbance	23236	PLCB1	ORPHA:293181
HP:0001288	Gait disturbance	3785	KCNQ2	ORPHA:293181
HP:0001288	Gait disturbance	3785	KCNQ2	ORPHA:439218
HP:0001288	Gait disturbance	57582	KCNT1	ORPHA:293181
HP:0001288	Gait disturbance	5277	PIGA	ORPHA:293181
HP:0001288	Gait disturbance	5277	PIGA	OMIM:300868
HP:0001288	Gait disturbance	79751	SLC25A22	ORPHA:293181
HP:0001288	Gait disturbance	1119	CHKA	OMIM:620023
HP:0001288	Gait disturbance	3190	HNRNPK	ORPHA:453504
HP:0001288	Gait disturbance	3190	HNRNPK	ORPHA:352665
HP:0001288	Gait disturbance	65993	MRPS34	OMIM:617664
HP:0001288	Gait disturbance	80816	ASXL3	OMIM:615485
HP:0001288	Gait disturbance	80816	ASXL3	ORPHA:352577
HP:0001288	Gait disturbance	2782	GNB1	ORPHA:488613
HP:0001288	Gait disturbance	2782	GNB1	OMIM:616973
HP:0001288	Gait disturbance	6487	ST3GAL3	OMIM:615006
HP:0001288	Gait disturbance	4010	LMX1B	ORPHA:495818
HP:0001288	Gait disturbance	6812	STXBP1	ORPHA:495818
HP:0001288	Gait disturbance	6812	STXBP1	ORPHA:599373
HP:0001288	Gait disturbance	166378	AFG2A	OMIM:616577
HP:0001288	Gait disturbance	166378	AFG2A	ORPHA:457351
HP:0001288	Gait disturbance	65082	VPS33A	OMIM:617303
HP:0001288	Gait disturbance	65082	VPS33A	ORPHA:505248
HP:0001288	Gait disturbance	5689	PSMB1	OMIM:620038
HP:0001288	Gait disturbance	55768	NGLY1	ORPHA:404454
HP:0001288	Gait disturbance	6844	VAMP2	OMIM:618760
HP:0001288	Gait disturbance	816	CAMK2B	OMIM:617799
HP:0001288	Gait disturbance	10381	TUBB3	ORPHA:300570
HP:0001288	Gait disturbance	170825	GSX2	OMIM:618646
HP:0001288	Gait disturbance	7920	ABHD16A	OMIM:619735
HP:0001288	Gait disturbance	85465	SELENOI	OMIM:618768
HP:0001288	Gait disturbance	10716	TBR1	OMIM:606053
HP:0001288	Gait disturbance	171023	ASXL1	ORPHA:97297
HP:0001288	Gait disturbance	22872	SEC31A	OMIM:618651
HP:0001288	Gait disturbance	1193	CLIC2	ORPHA:324410
HP:0001288	Gait disturbance	84314	TMEM107	OMIM:617563
HP:0001288	Gait disturbance	93627	TBCK	ORPHA:488632
HP:0001288	Gait disturbance	28514	DLL1	ORPHA:93926
HP:0001288	Gait disturbance	28514	DLL1	ORPHA:93924
HP:0001288	Gait disturbance	28514	DLL1	ORPHA:93925
HP:0001288	Gait disturbance	28514	DLL1	ORPHA:220386
HP:0001288	Gait disturbance	6496	SIX3	ORPHA:93926
HP:0001288	Gait disturbance	6496	SIX3	ORPHA:93924
HP:0001288	Gait disturbance	6496	SIX3	ORPHA:93925
HP:0001288	Gait disturbance	6496	SIX3	ORPHA:220386
HP:0001288	Gait disturbance	7050	TGIF1	ORPHA:93926
HP:0001288	Gait disturbance	7050	TGIF1	ORPHA:93924
HP:0001288	Gait disturbance	7050	TGIF1	ORPHA:93925
HP:0001288	Gait disturbance	7050	TGIF1	ORPHA:220386
HP:0001288	Gait disturbance	4838	NODAL	ORPHA:93926
HP:0001288	Gait disturbance	4838	NODAL	ORPHA:93924
HP:0001288	Gait disturbance	4838	NODAL	ORPHA:93925
HP:0001288	Gait disturbance	4838	NODAL	ORPHA:220386
HP:0001288	Gait disturbance	6469	SHH	ORPHA:93926
HP:0001288	Gait disturbance	6469	SHH	ORPHA:93924
HP:0001288	Gait disturbance	6469	SHH	ORPHA:93925
HP:0001288	Gait disturbance	6469	SHH	ORPHA:220386
HP:0001288	Gait disturbance	7546	ZIC2	ORPHA:93926
HP:0001288	Gait disturbance	7546	ZIC2	ORPHA:93924
HP:0001288	Gait disturbance	7546	ZIC2	ORPHA:93925
HP:0001288	Gait disturbance	7546	ZIC2	ORPHA:220386
HP:0001288	Gait disturbance	6491	STIL	ORPHA:93926
HP:0001288	Gait disturbance	6491	STIL	ORPHA:93924
HP:0001288	Gait disturbance	6491	STIL	ORPHA:93925
HP:0001288	Gait disturbance	6491	STIL	ORPHA:220386
HP:0001288	Gait disturbance	2619	GAS1	ORPHA:93926
HP:0001288	Gait disturbance	2619	GAS1	ORPHA:93924
HP:0001288	Gait disturbance	2619	GAS1	ORPHA:93925
HP:0001288	Gait disturbance	2619	GAS1	ORPHA:220386
HP:0001288	Gait disturbance	84976	DISP1	ORPHA:93926
HP:0001288	Gait disturbance	84976	DISP1	ORPHA:93924
HP:0001288	Gait disturbance	84976	DISP1	ORPHA:93925
HP:0001288	Gait disturbance	84976	DISP1	ORPHA:220386
HP:0001288	Gait disturbance	2736	GLI2	ORPHA:93926
HP:0001288	Gait disturbance	2736	GLI2	ORPHA:93924
HP:0001288	Gait disturbance	2736	GLI2	ORPHA:93925
HP:0001288	Gait disturbance	2736	GLI2	ORPHA:220386
HP:0001288	Gait disturbance	8928	FOXH1	ORPHA:93926
HP:0001288	Gait disturbance	8928	FOXH1	ORPHA:93924
HP:0001288	Gait disturbance	8928	FOXH1	ORPHA:93925
HP:0001288	Gait disturbance	8928	FOXH1	ORPHA:220386
HP:0001288	Gait disturbance	6997	CRIPTO	ORPHA:93926
HP:0001288	Gait disturbance	6997	CRIPTO	ORPHA:93924
HP:0001288	Gait disturbance	6997	CRIPTO	ORPHA:93925
HP:0001288	Gait disturbance	6997	CRIPTO	ORPHA:220386
HP:0001288	Gait disturbance	5727	PTCH1	ORPHA:93926
HP:0001288	Gait disturbance	5727	PTCH1	ORPHA:93924
HP:0001288	Gait disturbance	5727	PTCH1	ORPHA:93925
HP:0001288	Gait disturbance	5727	PTCH1	ORPHA:220386
HP:0001288	Gait disturbance	50937	CDON	ORPHA:93926
HP:0001288	Gait disturbance	50937	CDON	ORPHA:93924
HP:0001288	Gait disturbance	50937	CDON	ORPHA:93925
HP:0001288	Gait disturbance	50937	CDON	ORPHA:220386
HP:0001288	Gait disturbance	23007	PLCH1	ORPHA:93925
HP:0001288	Gait disturbance	55361	PI4K2A	OMIM:620732
HP:0001288	Gait disturbance	84947	SERAC1	OMIM:614739
HP:0001288	Gait disturbance	4534	MTM1	ORPHA:596
HP:0001288	Gait disturbance	51633	OTUD6B	OMIM:617452
HP:0001288	Gait disturbance	51633	OTUD6B	ORPHA:505237
HP:0001288	Gait disturbance	27089	UQCRQ	OMIM:615159
HP:0001288	Gait disturbance	9354	UBE4A	OMIM:619639
HP:0001288	Gait disturbance	116115	ZNF526	OMIM:619877
HP:0001288	Gait disturbance	285175	UNC80	OMIM:616801
HP:0001288	Gait disturbance	4191	MDH2	OMIM:617339
HP:0001288	Gait disturbance	83475	DOHH	OMIM:620066
HP:0001288	Gait disturbance	6609	SMPD1	OMIM:257200
HP:0001288	Gait disturbance	5700	PSMC1	OMIM:620071
HP:0001288	Gait disturbance	3187	HNRNPH1	OMIM:620083
HP:0001288	Gait disturbance	7143	TNR	OMIM:619653
HP:0001288	Gait disturbance	197258	FCSK	OMIM:618324
HP:0001288	Gait disturbance	51227	PIGP	OMIM:617599
HP:0001288	Gait disturbance	50628	GEMIN4	OMIM:617913
HP:0001288	Gait disturbance	64116	SLC39A8	ORPHA:468699
HP:0001288	Gait disturbance	64116	SLC39A8	OMIM:616721
HP:0001288	Gait disturbance	4556	MT-TE	ORPHA:2596
HP:0001288	Gait disturbance	58497	PRUNE1	OMIM:617481
HP:0001288	Gait disturbance	58497	PRUNE1	ORPHA:544469
HP:0001288	Gait disturbance	55656	INTS8	OMIM:618572
HP:0001288	Gait disturbance	51693	TRAPPC2L	OMIM:618331
HP:0001288	Gait disturbance	4208	MEF2C	OMIM:613443
HP:0001288	Gait disturbance	22907	DHX30	OMIM:617804
HP:0001288	Gait disturbance	7407	VARS1	OMIM:617802
HP:0001288	Gait disturbance	6857	SYT1	OMIM:618218
HP:0001288	Gait disturbance	10695	CNPY3	OMIM:617929
HP:0001288	Gait disturbance	55906	ZC4H2	OMIM:301041
HP:0001288	Gait disturbance	30000	TNPO2	OMIM:619556
HP:0001288	Gait disturbance	6567	SLC16A2	OMIM:300523
HP:0001288	Gait disturbance	116461	TSEN15	OMIM:617026
HP:0001288	Gait disturbance	2902	GRIN1	OMIM:617820
HP:0001288	Gait disturbance	2902	GRIN1	OMIM:614254
HP:0001288	Gait disturbance	5010	CLDN11	OMIM:619328
HP:0001288	Gait disturbance	443	ASPA	ORPHA:314911
HP:0001288	Gait disturbance	161725	OTUD7A	OMIM:620790
HP:0001288	Gait disturbance	25929	GEMIN5	OMIM:619333
HP:0001288	Gait disturbance	56915	EXOSC5	OMIM:619576
HP:0001288	Gait disturbance	23221	RHOBTB2	OMIM:618004
HP:0001288	Gait disturbance	9512	PMPCB	OMIM:617954
HP:0001288	Gait disturbance	7965	AIMP2	OMIM:618006
HP:0001288	Gait disturbance	9361	LONP1	ORPHA:79243
HP:0001288	Gait disturbance	5160	PDHA1	ORPHA:79243
HP:0001288	Gait disturbance	1781	DYNC1I2	OMIM:618492
HP:0001288	Gait disturbance	84188	FAR1	ORPHA:438178
HP:0001288	Gait disturbance	4761	NEUROD2	OMIM:618374
HP:0001288	Gait disturbance	128637	TBC1D20	OMIM:615663
HP:0001288	Gait disturbance	6304	SATB1	OMIM:619229
HP:0001288	Gait disturbance	54551	MAGEL2	OMIM:615547
HP:0001288	Gait disturbance	22931	RAB18	OMIM:614222
HP:0001288	Gait disturbance	85440	DOCK7	ORPHA:411986
HP:0001288	Gait disturbance	56270	WDR45B	OMIM:617977
HP:0001288	Gait disturbance	246329	STAC3	ORPHA:168572
HP:0001288	Gait disturbance	10128	LRPPRC	ORPHA:70472
HP:0001288	Gait disturbance	26503	SLC17A5	OMIM:604369
HP:0001288	Gait disturbance	9325	TRIP4	OMIM:617066
HP:0001288	Gait disturbance	23287	AGTPBP1	OMIM:618276
HP:0001288	Gait disturbance	79143	MBOAT7	OMIM:617188
HP:0001288	Gait disturbance	1806	DPYD	ORPHA:1675
HP:0001288	Gait disturbance	2893	GRIA4	OMIM:617864
HP:0001288	Gait disturbance	6509	SLC1A4	OMIM:616657
HP:0001288	Gait disturbance	8911	CACNA1I	OMIM:620114
HP:0001288	Gait disturbance	84628	NTNG2	OMIM:618718
HP:0001288	Gait disturbance	6904	TBCD	OMIM:617193
HP:0001288	Gait disturbance	777	CACNA1E	OMIM:618285
HP:0001288	Gait disturbance	1315	COPB1	OMIM:619255
HP:0001288	Gait disturbance	2806	GOT2	OMIM:618721
HP:0001288	Gait disturbance	25913	POT1	OMIM:620368
HP:0001288	Gait disturbance	5479	PPIB	OMIM:259440
HP:0001288	Gait disturbance	2639	GCDH	OMIM:231670
HP:0001288	Gait disturbance	56947	MFF	OMIM:617086
HP:0001288	Gait disturbance	1496	CTNNA2	OMIM:618174
HP:0001288	Gait disturbance	8803	SUCLA2	OMIM:612073
HP:0001288	Gait disturbance	55753	OGDHL	OMIM:619701
HP:0001288	Gait disturbance	9990	SLC12A6	OMIM:218000
HP:0001288	Gait disturbance	90952	ESAM	OMIM:620371
HP:0001288	Gait disturbance	50717	DCAF8	OMIM:610100
HP:0001288	Gait disturbance	55775	TDP1	ORPHA:94124
HP:0001288	Gait disturbance	55775	TDP1	OMIM:607250
HP:0001288	Gait disturbance	7879	RAB7A	OMIM:600882
HP:0001288	Gait disturbance	476	ATP1A1	OMIM:618036
HP:0001288	Gait disturbance	23095	KIF1B	OMIM:118210
HP:0001288	Gait disturbance	90678	LRSAM1	OMIM:614436
HP:0001288	Gait disturbance	8148	TAF15	ORPHA:803
HP:0001288	Gait disturbance	5445	PON2	ORPHA:803
HP:0001288	Gait disturbance	5630	PRPH	ORPHA:803
HP:0001288	Gait disturbance	29110	TBK1	ORPHA:803
HP:0001288	Gait disturbance	55830	GLT8D1	ORPHA:803
HP:0001288	Gait disturbance	755	CFAP410	ORPHA:803
HP:0001288	Gait disturbance	10891	PPARGC1A	ORPHA:803
HP:0001288	Gait disturbance	6647	SOD1	ORPHA:803
HP:0001288	Gait disturbance	10133	OPTN	ORPHA:803
HP:0001288	Gait disturbance	1639	DCTN1	ORPHA:803
HP:0001288	Gait disturbance	5444	PON1	ORPHA:803
HP:0001288	Gait disturbance	5446	PON3	ORPHA:803
HP:0001288	Gait disturbance	5216	PFN1	ORPHA:803
HP:0001288	Gait disturbance	283	ANG	ORPHA:803
HP:0001288	Gait disturbance	23435	TARDBP	ORPHA:803
HP:0001288	Gait disturbance	29978	UBQLN2	ORPHA:803
HP:0001288	Gait disturbance	4750	NEK1	ORPHA:803
HP:0001288	Gait disturbance	1610	DAO	ORPHA:803
HP:0001288	Gait disturbance	2066	ERBB4	ORPHA:803
HP:0001288	Gait disturbance	311	ANXA11	ORPHA:803
HP:0001288	Gait disturbance	23025	UNC13A	ORPHA:803
HP:0001288	Gait disturbance	899	CCNF	ORPHA:803
HP:0001288	Gait disturbance	59345	GNB4	OMIM:615185
HP:0001288	Gait disturbance	64423	INF2	OMIM:614455
HP:0001288	Gait disturbance	1337	COX6A1	OMIM:616039
HP:0001288	Gait disturbance	3735	KARS1	OMIM:613641
HP:0001288	Gait disturbance	50846	DHH	ORPHA:168563
HP:0001288	Gait disturbance	80036	TRPM3	OMIM:620224
HP:0001288	Gait disturbance	4287	ATXN3	ORPHA:276244
HP:0001288	Gait disturbance	4287	ATXN3	ORPHA:276241
HP:0001288	Gait disturbance	4287	ATXN3	ORPHA:276238
HP:0001288	Gait disturbance	6335	SCN9A	ORPHA:33069
HP:0001288	Gait disturbance	2554	GABRA1	ORPHA:33069
HP:0001288	Gait disturbance	6324	SCN1B	ORPHA:33069
HP:0001288	Gait disturbance	57526	PCDH19	ORPHA:33069
HP:0001288	Gait disturbance	112476	PRRT2	ORPHA:569
HP:0001288	Gait disturbance	126	ADH1C	OMIM:168600
HP:0001288	Gait disturbance	4576	MT-TT	OMIM:168600
HP:0001288	Gait disturbance	9627	SNCAIP	OMIM:168600
HP:0001288	Gait disturbance	10730	YME1L1	OMIM:617302
HP:0001288	Gait disturbance	54463	RETREG1	OMIM:613115
HP:0001288	Gait disturbance	8367	H4C5	OMIM:619950
HP:0001288	Gait disturbance	2200	FBN1	OMIM:614185
HP:0001288	Gait disturbance	3032	HADHB	ORPHA:746
HP:0001288	Gait disturbance	3030	HADHA	ORPHA:746
HP:0001288	Gait disturbance	84340	GFM2	ORPHA:565624
HP:0001288	Gait disturbance	11011	TLK2	OMIM:618050
HP:0001288	Gait disturbance	55181	SMG8	OMIM:619268
HP:0001288	Gait disturbance	9531	BAG3	OMIM:612954
HP:0001288	Gait disturbance	50640	PNPLA8	OMIM:251950
HP:0001288	Gait disturbance	6874	TAF4	OMIM:620450
HP:0001288	Gait disturbance	84274	COQ5	OMIM:619028
HP:0001288	Gait disturbance	182	JAG1	OMIM:619574
HP:0001288	Gait disturbance	3781	KCNN2	OMIM:619724
HP:0001288	Gait disturbance	65217	PCDH15	OMIM:602083
HP:0001288	Gait disturbance	5351	PLOD1	ORPHA:1900
HP:0001288	Gait disturbance	55343	SLC35C1	ORPHA:99843
HP:0001288	Gait disturbance	23065	EMC1	ORPHA:480898
HP:0001288	Gait disturbance	4613	MYCN	ORPHA:635
HP:0001288	Gait disturbance	238	ALK	ORPHA:635
HP:0001288	Gait disturbance	389421	LIN28B	ORPHA:635
HP:0001288	Gait disturbance	4004	LMO1	ORPHA:635
HP:0001288	Gait disturbance	8929	PHOX2B	ORPHA:635
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	11160	ERLIN2	ORPHA:280384
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	57526	PCDH19	ORPHA:101039
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	57526	PCDH19	ORPHA:33069
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	6513	SLC2A1	ORPHA:64280
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	2562	GABRB3	ORPHA:64280
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	2554	GABRA1	ORPHA:64280
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	2554	GABRA1	ORPHA:307
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	2554	GABRA1	ORPHA:33069
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	2554	GABRA1	OMIM:615744
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	8912	CACNA1H	ORPHA:64280
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	8629	JRK	ORPHA:64280
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	8629	JRK	ORPHA:307
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	2566	GABRG2	ORPHA:64280
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	2566	GABRG2	OMIM:607681
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	2566	GABRG2	ORPHA:36387
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	2566	GABRG2	ORPHA:33069
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	2566	GABRG2	ORPHA:1945
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	6134	RPL10	OMIM:300998
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	6134	RPL10	ORPHA:459070
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	57468	SLC12A5	OMIM:616685
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	5993	RFX5	OMIM:620818
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	348980	HCN1	OMIM:615871
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	348980	HCN1	OMIM:618482
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	348980	HCN1	ORPHA:36387
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	351	APP	ORPHA:324723
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	1859	DYRK1A	ORPHA:268261
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	1859	DYRK1A	OMIM:614104
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	23446	SLC44A1	OMIM:618868
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	3145	HMBS	OMIM:620704
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	4598	MVK	OMIM:260920
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	55823	VPS11	ORPHA:466934
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	8924	HERC2	OMIM:615516
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	1788	DNMT3A	OMIM:615879
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	785	CACNB4	OMIM:613855
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	785	CACNB4	ORPHA:307
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	785	CACNB4	OMIM:607682
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	114327	EFHC1	ORPHA:307
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	114327	EFHC1	ORPHA:1941
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	2563	GABRD	ORPHA:307
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	2563	GABRD	OMIM:613060
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	2563	GABRD	ORPHA:36387
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	1181	CLCN2	ORPHA:307
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	3786	KCNQ3	ORPHA:307
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	22858	CILK1	ORPHA:307
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	22858	CILK1	OMIM:617924
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	6709	SPTAN1	OMIM:620540
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	23126	POGZ	ORPHA:468678
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	23126	POGZ	OMIM:616364
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	3785	KCNQ2	OMIM:121200
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	55209	SETD5	ORPHA:404440
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	57465	TBC1D24	OMIM:605021
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	154881	KCTD7	ORPHA:263516
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	5745	PTH1R	OMIM:600002
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	4784	NFIX	ORPHA:447980
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	2581	GALC	ORPHA:206443
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	80232	WDR26	ORPHA:513456
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	80232	WDR26	OMIM:617616
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	387119	CEP85L	OMIM:618873
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	112755	STX1B	OMIM:616172
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	112755	STX1B	ORPHA:36387
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	1841	DTYMK	OMIM:619847
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	51111	KMT5B	OMIM:617788
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	1106	CHD2	OMIM:615369
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	5184	PEPD	OMIM:170100
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	2782	GNB1	OMIM:616973
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	6334	SCN8A	OMIM:614558
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	846	CASR	OMIM:612899
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	2891	GRIA2	OMIM:618917
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	161725	OTUD7A	OMIM:620790
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	6904	TBCD	ORPHA:496641
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	90161	HS6ST2	OMIM:301025
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	55777	MBD5	OMIM:156200
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	4001	LMNB1	OMIM:619179
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	815	CAMK2A	OMIM:617798
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	267010	RNU12	OMIM:620208
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	267010	RNU12	ORPHA:512260
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	51319	RSRC1	OMIM:618402
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	27315	PGAP2	OMIM:614207
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	7920	ABHD16A	OMIM:619735
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	10157	AASS	OMIM:238700
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	549	AUH	OMIM:250950
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	4566	MT-TK	ORPHA:1349
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	8604	SLC25A12	OMIM:612949
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	26523	AGO1	OMIM:620292
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	6390	SDHB	OMIM:619224
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	2744	GLS	OMIM:618412
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	5277	PIGA	OMIM:300868
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	5283	PIGH	OMIM:618010
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	26040	SETBP1	OMIM:616078
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	2903	GRIN2A	ORPHA:289266
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	2903	GRIN2A	ORPHA:1945
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	523	ATP6V1A	OMIM:618012
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	79813	EHMT1	OMIM:610253
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	23314	SATB2	OMIM:612313
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	55623	THUMPD1	OMIM:619989
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	91039	DPP9	OMIM:620331
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	112476	PRRT2	OMIM:605751
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	112476	PRRT2	ORPHA:36387
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	6335	SCN9A	ORPHA:36387
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	6335	SCN9A	ORPHA:33069
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	6326	SCN2A	ORPHA:36387
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	6326	SCN2A	ORPHA:33069
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	6326	SCN2A	ORPHA:1934
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	6323	SCN1A	ORPHA:36387
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	6323	SCN1A	ORPHA:33069
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	6323	SCN1A	OMIM:604403
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	6324	SCN1B	ORPHA:36387
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	6324	SCN1B	ORPHA:33069
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	6324	SCN1B	OMIM:617350
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	6324	SCN1B	OMIM:604233
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	6324	SCN1B	ORPHA:1934
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	2258	FGF13	ORPHA:36387
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	84059	ADGRV1	ORPHA:36387
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	84059	ADGRV1	OMIM:604352
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	6874	TAF4	OMIM:620450
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	64864	RFX7	OMIM:620330
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	610	HCN2	OMIM:602477
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	3737	KCNA2	OMIM:616366
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	11154	AP4S1	OMIM:614067
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	64849	SLC13A3	OMIM:618384
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	57680	CHD8	OMIM:615032
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	22866	CNKSR2	OMIM:301008
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	6711	SPTBN1	OMIM:619475
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	527	ATP6V0C	OMIM:620465
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	8659	ALDH4A1	ORPHA:79101
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	55343	SLC35C1	OMIM:266265
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	10236	HNRNPR	OMIM:620073
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	4094	MAF	ORPHA:1272
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	79143	MBOAT7	OMIM:617188
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	1806	DPYD	ORPHA:1675
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	140679	SLC32A1	OMIM:620755
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	140679	SLC32A1	ORPHA:1934
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	55717	WDR11	OMIM:620237
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	2593	GAMT	OMIM:612736
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	2556	GABRA3	OMIM:301091
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	55252	ASXL2	OMIM:617190
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	34	ACADM	ORPHA:42
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	54802	TRIT1	OMIM:617873
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	23219	FBXO28	OMIM:619777
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	27286	SRPX2	ORPHA:1945
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	84706	GPT2	ORPHA:477673
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	284361	EMC10	OMIM:619264
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	3763	KCNJ6	OMIM:614098
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	11338	U2AF2	OMIM:620535
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	267	AMFR	OMIM:620379
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	78987	CRELD1	OMIM:620771
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	57094	CPA6	OMIM:614418
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	6792	CDKL5	ORPHA:1934
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	3736	KCNA1	ORPHA:1934
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	9091	PIGQ	ORPHA:1934
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	2775	GNAO1	ORPHA:1934
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	81603	TRIM8	ORPHA:1934
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	2902	GRIN1	ORPHA:1934
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	79751	SLC25A22	ORPHA:1934
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	150094	SIK1	ORPHA:1934
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	8573	CASK	ORPHA:1934
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	23312	DMXL2	ORPHA:1934
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	2917	GRM7	ORPHA:1934
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	170302	ARX	ORPHA:1934
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	11284	PNKP	ORPHA:1934
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	51227	PIGP	ORPHA:1934
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	4761	NEUROD2	ORPHA:1934
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	283989	TSEN54	ORPHA:2524
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	116461	TSEN15	ORPHA:2524
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	79042	TSEN34	ORPHA:2524
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	80746	TSEN2	ORPHA:2524
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	51091	SEPSECS	ORPHA:2524
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	6328	SCN3A	OMIM:617935
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	10815	CPLX1	ORPHA:352582
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	51322	WAC	ORPHA:466950
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	5698	PSMB9	OMIM:620796
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	10295	BCKDK	OMIM:614923
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	8831	SYNGAP1	ORPHA:1942
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	1173	AP2M1	ORPHA:1942
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	340533	NEXMIF	ORPHA:1942
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	6529	SLC6A1	ORPHA:1942
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	8131	NPRL3	ORPHA:98820
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	10641	NPRL2	ORPHA:98820
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	9681	DEPDC5	ORPHA:98820
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	25839	COG4	ORPHA:263501
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	84188	FAR1	OMIM:619338
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	5138	PDE2A	ORPHA:31709
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	135	ADORA2A	ORPHA:363549
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	773	CACNA1A	ORPHA:569
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	477	ATP1A2	ORPHA:569
HP:0007103	Hypointensity of cerebral white matter on MRI	158	ADSL	ORPHA:46
HP:0007103	Hypointensity of cerebral white matter on MRI	3735	KARS1	OMIM:619196
HP:0007103	Hypointensity of cerebral white matter on MRI	7319	UBE2A	OMIM:300860
HP:0007103	Hypointensity of cerebral white matter on MRI	7319	UBE2A	ORPHA:163956
HP:0007103	Hypointensity of cerebral white matter on MRI	3908	LAMA2	OMIM:607855
HP:0007103	Hypointensity of cerebral white matter on MRI	1890	TYMP	OMIM:603041
HP:0007103	Hypointensity of cerebral white matter on MRI	5428	POLG	OMIM:603041
HP:0007103	Hypointensity of cerebral white matter on MRI	2581	GALC	ORPHA:206436
HP:0007103	Hypointensity of cerebral white matter on MRI	5660	PSAP	ORPHA:206436
HP:0007103	Hypointensity of cerebral white matter on MRI	135	ADORA2A	ORPHA:363549
HP:0007103	Hypointensity of cerebral white matter on MRI	25939	SAMHD1	OMIM:612952
HP:0007103	Hypointensity of cerebral white matter on MRI	84340	GFM2	ORPHA:565624
HP:0007103	Hypointensity of cerebral white matter on MRI	11277	TREX1	OMIM:225750
HP:0007103	Hypointensity of cerebral white matter on MRI	2232	FDXR	ORPHA:543470
HP:0007103	Hypointensity of cerebral white matter on MRI	9839	ZEB2	ORPHA:261537
HP:0007103	Hypointensity of cerebral white matter on MRI	9839	ZEB2	ORPHA:261552
HP:0007104	Prolonged somatosensory evoked potentials	57465	TBC1D24	OMIM:608105
HP:0007104	Prolonged somatosensory evoked potentials	57465	TBC1D24	ORPHA:163727
HP:0007105	Infantile encephalopathy	55704	CCDC88A	OMIM:617507
HP:0007105	Infantile encephalopathy	728294	D2HGDH	OMIM:600721
HP:0007105	Infantile encephalopathy	7084	TK2	ORPHA:254875
HP:0007105	Infantile encephalopathy	80704	SLC19A3	ORPHA:263410
HP:0007105	Infantile encephalopathy	283989	TSEN54	OMIM:225753
HP:0007105	Infantile encephalopathy	9326	ZNHIT3	OMIM:260565
HP:0007105	Infantile encephalopathy	6812	STXBP1	OMIM:612164
HP:0007105	Infantile encephalopathy	2639	GCDH	OMIM:231670
HP:0007107	Segmental peripheral demyelination	79628	SH3TC2	OMIM:601596
HP:0007107	Segmental peripheral demyelination	54332	GDAP1	OMIM:214400
HP:0007107	Segmental peripheral demyelination	1785	DNM2	OMIM:606482
HP:0007107	Segmental peripheral demyelination	8729	GBF1	OMIM:606483
HP:0007108	Demyelinating peripheral neuropathy	5428	POLG	ORPHA:298
HP:0007108	Demyelinating peripheral neuropathy	1890	TYMP	ORPHA:298
HP:0007108	Demyelinating peripheral neuropathy	3980	LIG3	ORPHA:298
HP:0007108	Demyelinating peripheral neuropathy	50484	RRM2B	ORPHA:298
HP:0007108	Demyelinating peripheral neuropathy	5981	RFC1	ORPHA:504476
HP:0007108	Demyelinating peripheral neuropathy	51651	PTRH2	OMIM:616263
HP:0007108	Demyelinating peripheral neuropathy	23312	DMXL2	ORPHA:453533
HP:0007108	Demyelinating peripheral neuropathy	1161	ERCC8	ORPHA:90324
HP:0007108	Demyelinating peripheral neuropathy	2074	ERCC6	ORPHA:90324
HP:0007108	Demyelinating peripheral neuropathy	4897	NRCAM	OMIM:619833
HP:0007108	Demyelinating peripheral neuropathy	8560	DEGS1	OMIM:618404
HP:0007108	Demyelinating peripheral neuropathy	7841	MOGS	OMIM:606056
HP:0007108	Demyelinating peripheral neuropathy	11145	PLAAT3	OMIM:620683
HP:0007108	Demyelinating peripheral neuropathy	57731	SPTBN4	OMIM:617519
HP:0007108	Demyelinating peripheral neuropathy	10939	AFG3L2	ORPHA:313772
HP:0007108	Demyelinating peripheral neuropathy	3098	HK1	ORPHA:99953
HP:0007108	Demyelinating peripheral neuropathy	10397	NDRG1	ORPHA:99950
HP:0007108	Demyelinating peripheral neuropathy	4535	MT-ND1	ORPHA:255210
HP:0007108	Demyelinating peripheral neuropathy	4536	MT-ND2	ORPHA:255210
HP:0007108	Demyelinating peripheral neuropathy	4537	MT-ND3	ORPHA:255210
HP:0007108	Demyelinating peripheral neuropathy	4538	MT-ND4	ORPHA:255210
HP:0007108	Demyelinating peripheral neuropathy	4567	MT-TL1	ORPHA:255210
HP:0007108	Demyelinating peripheral neuropathy	4578	MT-TW	ORPHA:255210
HP:0007108	Demyelinating peripheral neuropathy	4577	MT-TV	ORPHA:255210
HP:0007108	Demyelinating peripheral neuropathy	4508	MT-ATP6	ORPHA:255210
HP:0007108	Demyelinating peripheral neuropathy	4540	MT-ND5	ORPHA:255210
HP:0007108	Demyelinating peripheral neuropathy	4541	MT-ND6	ORPHA:255210
HP:0007108	Demyelinating peripheral neuropathy	4566	MT-TK	ORPHA:255210
HP:0007108	Demyelinating peripheral neuropathy	5354	PLP1	ORPHA:280234
HP:0007108	Demyelinating peripheral neuropathy	26278	SACS	ORPHA:98
HP:0007108	Demyelinating peripheral neuropathy	5611	DNAJC3	ORPHA:445062
HP:0007108	Demyelinating peripheral neuropathy	55703	POLR3B	OMIM:619742
HP:0007108	Demyelinating peripheral neuropathy	23503	ZFYVE26	ORPHA:100996
HP:0007108	Demyelinating peripheral neuropathy	4126	MANBA	OMIM:248510
HP:0007108	Demyelinating peripheral neuropathy	26090	ABHD12	OMIM:612674
HP:0007108	Demyelinating peripheral neuropathy	54332	GDAP1	ORPHA:99948
HP:0007108	Demyelinating peripheral neuropathy	2068	ERCC2	ORPHA:220295
HP:0007108	Demyelinating peripheral neuropathy	2073	ERCC5	ORPHA:220295
HP:0007108	Demyelinating peripheral neuropathy	2072	ERCC4	ORPHA:220295
HP:0007108	Demyelinating peripheral neuropathy	2071	ERCC3	ORPHA:220295
HP:0007108	Demyelinating peripheral neuropathy	5376	PMP22	ORPHA:90658
HP:0007108	Demyelinating peripheral neuropathy	5376	PMP22	ORPHA:101081
HP:0007108	Demyelinating peripheral neuropathy	50	ACO2	OMIM:614559
HP:0007108	Demyelinating peripheral neuropathy	79628	SH3TC2	ORPHA:99949
HP:0007108	Demyelinating peripheral neuropathy	3035	HARS1	ORPHA:488333
HP:0007108	Demyelinating peripheral neuropathy	9531	BAG3	OMIM:612954
HP:0007108	Demyelinating peripheral neuropathy	7443	VRK1	OMIM:607596
HP:0007108	Demyelinating peripheral neuropathy	6663	SOX10	OMIM:609136
HP:0007108	Demyelinating peripheral neuropathy	10535	RNASEH2A	ORPHA:51
HP:0007108	Demyelinating peripheral neuropathy	84153	RNASEH2C	ORPHA:51
HP:0007108	Demyelinating peripheral neuropathy	25939	SAMHD1	ORPHA:51
HP:0007108	Demyelinating peripheral neuropathy	79621	RNASEH2B	ORPHA:51
HP:0007108	Demyelinating peripheral neuropathy	103	ADAR	ORPHA:51
HP:0007108	Demyelinating peripheral neuropathy	11277	TREX1	ORPHA:51
HP:0007108	Demyelinating peripheral neuropathy	100147744	RNU7-1	ORPHA:51
HP:0007108	Demyelinating peripheral neuropathy	134353	LSM11	ORPHA:51
HP:0007108	Demyelinating peripheral neuropathy	64135	IFIH1	ORPHA:51
HP:0007108	Demyelinating peripheral neuropathy	165918	RNF168	ORPHA:420741
HP:0007108	Demyelinating peripheral neuropathy	9990	SLC12A6	OMIM:218000
HP:0007108	Demyelinating peripheral neuropathy	4359	MPZ	ORPHA:3115
HP:0007108	Demyelinating peripheral neuropathy	246243	RNASEH1	OMIM:616479
HP:0007108	Demyelinating peripheral neuropathy	85465	SELENOI	ORPHA:506353
HP:0007108	Demyelinating peripheral neuropathy	57165	GJC2	OMIM:608804
HP:0007108	Demyelinating peripheral neuropathy	10342	TFG	OMIM:615658
HP:0007108	Demyelinating peripheral neuropathy	4747	NEFL	ORPHA:99939
HP:0007108	Demyelinating peripheral neuropathy	4747	NEFL	ORPHA:101085
HP:0007108	Demyelinating peripheral neuropathy	65260	COA7	OMIM:618387
HP:0033245	Abnormal alveolar type II pneumocyte morphology	6440	SFTPC	OMIM:610913
HP:0033245	Abnormal alveolar type II pneumocyte morphology	8085	KMT2D	OMIM:147920
HP:0033245	Abnormal alveolar type II pneumocyte morphology	7403	KDM6A	OMIM:147920
HP:0012410	Pure red cell aplasia	6138	RPL15	ORPHA:124
HP:0012410	Pure red cell aplasia	6224	RPS20	ORPHA:124
HP:0012410	Pure red cell aplasia	6165	RPL35A	ORPHA:124
HP:0012410	Pure red cell aplasia	6132	RPL8	ORPHA:124
HP:0012410	Pure red cell aplasia	6223	RPS19	ORPHA:124
HP:0012410	Pure red cell aplasia	6232	RPS27	ORPHA:124
HP:0012410	Pure red cell aplasia	55027	HEATR3	ORPHA:124
HP:0012410	Pure red cell aplasia	6160	RPL31	ORPHA:124
HP:0012410	Pure red cell aplasia	6201	RPS7	ORPHA:124
HP:0012410	Pure red cell aplasia	6155	RPL27	ORPHA:124
HP:0012410	Pure red cell aplasia	6234	RPS28	ORPHA:124
HP:0012410	Pure red cell aplasia	6135	RPL11	ORPHA:124
HP:0012410	Pure red cell aplasia	6229	RPS24	ORPHA:124
HP:0012410	Pure red cell aplasia	6125	RPL5	ORPHA:124
HP:0012410	Pure red cell aplasia	6204	RPS10	ORPHA:124
HP:0012410	Pure red cell aplasia	2623	GATA1	ORPHA:124
HP:0012410	Pure red cell aplasia	6133	RPL9	ORPHA:124
HP:0012410	Pure red cell aplasia	6231	RPS26	ORPHA:124
HP:0012410	Pure red cell aplasia	11224	RPL35	ORPHA:124
HP:0012410	Pure red cell aplasia	6218	RPS17	ORPHA:124
HP:0012410	Pure red cell aplasia	6154	RPL26	ORPHA:124
HP:0012410	Pure red cell aplasia	6210	RPS15A	ORPHA:124
HP:0012410	Pure red cell aplasia	90121	TSR2	ORPHA:124
HP:0012410	Pure red cell aplasia	6141	RPL18	ORPHA:124
HP:0012410	Pure red cell aplasia	6235	RPS29	ORPHA:124
HP:0012410	Pure red cell aplasia	51816	ADA2	ORPHA:124
HP:0012410	Pure red cell aplasia	4860	PNP	OMIM:613179
HP:0012410	Pure red cell aplasia	2056	EPO	OMIM:617911
HP:0012410	Pure red cell aplasia	7157	TP53	OMIM:618165
HP:0012410	Pure red cell aplasia	1493	CTLA4	ORPHA:436159
HP:0012411	Premature pubarche	3284	HSD3B2	OMIM:201810
HP:0012411	Premature pubarche	6638	SNRPN	ORPHA:177904
HP:0012411	Premature pubarche	6638	SNRPN	ORPHA:177901
HP:0012411	Premature pubarche	6638	SNRPN	ORPHA:98754
HP:0012411	Premature pubarche	4692	NDN	ORPHA:177904
HP:0012411	Premature pubarche	4692	NDN	ORPHA:177901
HP:0012411	Premature pubarche	4692	NDN	ORPHA:98754
HP:0012411	Premature pubarche	54551	MAGEL2	ORPHA:177904
HP:0012411	Premature pubarche	54551	MAGEL2	ORPHA:177901
HP:0012411	Premature pubarche	54551	MAGEL2	ORPHA:398069
HP:0012411	Premature pubarche	54551	MAGEL2	ORPHA:98754
HP:0012411	Premature pubarche	4948	OCA2	ORPHA:177904
HP:0012411	Premature pubarche	4948	OCA2	ORPHA:177901
HP:0012411	Premature pubarche	4948	OCA2	ORPHA:98754
HP:0012411	Premature pubarche	7681	MKRN3	OMIM:615346
HP:0012411	Premature pubarche	3290	HSD11B1	OMIM:614662
HP:0012411	Premature pubarche	6492	SIM1	ORPHA:398079
HP:0012411	Premature pubarche	128989	TANGO2	OMIM:616878
HP:0012411	Premature pubarche	4221	MEN1	ORPHA:99725
HP:0012411	Premature pubarche	9049	AIP	ORPHA:99725
HP:0012411	Premature pubarche	9060	PAPSS2	OMIM:612847
HP:0012411	Premature pubarche	1584	CYP11B1	ORPHA:90795
HP:0012412	Premature adrenarche	2887	GRB10	ORPHA:96182
HP:0012412	Premature adrenarche	6638	SNRPN	ORPHA:177904
HP:0012412	Premature adrenarche	6638	SNRPN	ORPHA:177901
HP:0012412	Premature adrenarche	6638	SNRPN	ORPHA:98754
HP:0012412	Premature adrenarche	4692	NDN	ORPHA:177904
HP:0012412	Premature adrenarche	4692	NDN	ORPHA:177901
HP:0012412	Premature adrenarche	4692	NDN	ORPHA:98754
HP:0012412	Premature adrenarche	54551	MAGEL2	ORPHA:177904
HP:0012412	Premature adrenarche	54551	MAGEL2	ORPHA:177901
HP:0012412	Premature adrenarche	54551	MAGEL2	ORPHA:98754
HP:0012412	Premature adrenarche	4948	OCA2	ORPHA:177904
HP:0012412	Premature adrenarche	4948	OCA2	ORPHA:177901
HP:0012412	Premature adrenarche	4948	OCA2	ORPHA:98754
HP:0012412	Premature adrenarche	7874	USP7	OMIM:616863
HP:0012412	Premature adrenarche	6492	SIM1	ORPHA:398079
HP:0012412	Premature adrenarche	3284	HSD3B2	ORPHA:90791
HP:0012412	Premature adrenarche	6874	TAF4	OMIM:620450
HP:0012412	Premature adrenarche	1584	CYP11B1	ORPHA:90795
HP:0012413	Notched primary central incisor	1802	DPH2	OMIM:620062
HP:0012413	Notched primary central incisor	10848	PPP1R13L	OMIM:620519
HP:0012415	Abnormal blood gas level	6609	SMPD1	ORPHA:77293
HP:0012415	Abnormal blood gas level	779	CACNA1S	OMIM:601887
HP:0012415	Abnormal blood gas level	779	CACNA1S	ORPHA:423
HP:0012415	Abnormal blood gas level	57190	SELENON	ORPHA:2020
HP:0012415	Abnormal blood gas level	58	ACTA1	ORPHA:2020
HP:0012415	Abnormal blood gas level	4633	MYL2	ORPHA:2020
HP:0012415	Abnormal blood gas level	3679	ITGA7	ORPHA:2020
HP:0012415	Abnormal blood gas level	7169	TPM2	ORPHA:2020
HP:0012415	Abnormal blood gas level	9200	HACD1	ORPHA:2020
HP:0012415	Abnormal blood gas level	7170	TPM3	ORPHA:2020
HP:0012415	Abnormal blood gas level	51776	MAP3K20	ORPHA:2020
HP:0012415	Abnormal blood gas level	4728	NDUFS8	OMIM:618222
HP:0012415	Abnormal blood gas level	29967	LRP12	OMIM:164310
HP:0012415	Abnormal blood gas level	246329	STAC3	OMIM:255995
HP:0012415	Abnormal blood gas level	6261	RYR1	ORPHA:423
HP:0012415	Abnormal blood gas level	8929	PHOX2B	OMIM:209880
HP:0012415	Abnormal blood gas level	3043	HBB	ORPHA:232
HP:0012415	Abnormal blood gas level	3043	HBB	OMIM:603903
HP:0012415	Abnormal blood gas level	4625	MYH7	ORPHA:1880
HP:0012415	Abnormal blood gas level	3123	HLA-DRB1	ORPHA:747
HP:0012415	Abnormal blood gas level	3123	HLA-DRB1	OMIM:181000
HP:0012415	Abnormal blood gas level	2200	FBN1	ORPHA:284979
HP:0012415	Abnormal blood gas level	959	CD40LG	OMIM:308230
HP:0012415	Abnormal blood gas level	10559	SLC35A1	ORPHA:238459
HP:0012415	Abnormal blood gas level	4141	MARS1	OMIM:615486
HP:0012415	Abnormal blood gas level	6440	SFTPC	OMIM:610913
HP:0012415	Abnormal blood gas level	6440	SFTPC	ORPHA:685082
HP:0012415	Abnormal blood gas level	2022	ENG	OMIM:187300
HP:0012415	Abnormal blood gas level	21	ABCA3	ORPHA:685082
HP:0012415	Abnormal blood gas level	21	ABCA3	OMIM:610921
HP:0012415	Abnormal blood gas level	6439	SFTPB	ORPHA:685082
HP:0012415	Abnormal blood gas level	23019	CNOT1	ORPHA:556955
HP:0012415	Abnormal blood gas level	1439	CSF2RB	ORPHA:264675
HP:0012415	Abnormal blood gas level	1438	CSF2RA	ORPHA:264675
HP:0012415	Abnormal blood gas level	56244	BTNL2	OMIM:612387
HP:0012415	Abnormal blood gas level	2261	FGFR3	ORPHA:15
HP:0012415	Abnormal blood gas level	440275	EIF2AK4	ORPHA:199241
HP:0012415	Abnormal blood gas level	51651	PTRH2	ORPHA:456312
HP:0012415	Abnormal blood gas level	23414	ZFPM2	ORPHA:2140
HP:0012415	Abnormal blood gas level	9361	LONP1	ORPHA:2140
HP:0012415	Abnormal blood gas level	2627	GATA6	ORPHA:2140
HP:0012415	Abnormal blood gas level	10568	SLC34A2	ORPHA:60025
HP:0012415	Abnormal blood gas level	6662	SOX9	ORPHA:718
HP:0012415	Abnormal blood gas level	7080	NKX2-1	OMIM:610978
HP:0012415	Abnormal blood gas level	6005	RHAG	ORPHA:71275
HP:0012415	Abnormal blood gas level	6006	RHCE	ORPHA:71275
HP:0012415	Abnormal blood gas level	6007	RHD	ORPHA:71275
HP:0012415	Abnormal blood gas level	729238	SFTPA2	ORPHA:2032
HP:0012415	Abnormal blood gas level	79991	STN1	ORPHA:2032
HP:0012415	Abnormal blood gas level	653509	SFTPA1	ORPHA:2032
HP:0012415	Abnormal blood gas level	1832	DSP	ORPHA:2032
HP:0012415	Abnormal blood gas level	727897	MUC5B	ORPHA:2032
HP:0012415	Abnormal blood gas level	10144	FAM13A	ORPHA:2032
HP:0012415	Abnormal blood gas level	23250	ATP11A	ORPHA:2032
HP:0012415	Abnormal blood gas level	91039	DPP9	ORPHA:2032
HP:0012415	Abnormal blood gas level	51750	RTEL1	ORPHA:2032
HP:0012415	Abnormal blood gas level	7012	TERC	ORPHA:2032
HP:0012415	Abnormal blood gas level	5073	PARN	ORPHA:2032
HP:0012415	Abnormal blood gas level	7015	TERT	ORPHA:2032
HP:0012416	Hypercapnia	779	CACNA1S	OMIM:601887
HP:0012416	Hypercapnia	779	CACNA1S	ORPHA:423
HP:0012416	Hypercapnia	57190	SELENON	ORPHA:2020
HP:0012416	Hypercapnia	58	ACTA1	ORPHA:2020
HP:0012416	Hypercapnia	4633	MYL2	ORPHA:2020
HP:0012416	Hypercapnia	3679	ITGA7	ORPHA:2020
HP:0012416	Hypercapnia	7169	TPM2	ORPHA:2020
HP:0012416	Hypercapnia	9200	HACD1	ORPHA:2020
HP:0012416	Hypercapnia	7170	TPM3	ORPHA:2020
HP:0012416	Hypercapnia	51776	MAP3K20	ORPHA:2020
HP:0012416	Hypercapnia	4728	NDUFS8	OMIM:618222
HP:0012416	Hypercapnia	29967	LRP12	OMIM:164310
HP:0012416	Hypercapnia	246329	STAC3	OMIM:255995
HP:0012416	Hypercapnia	6261	RYR1	ORPHA:423
HP:0012416	Hypercapnia	8929	PHOX2B	OMIM:209880
HP:0012417	Hypocapnia	6261	RYR1	ORPHA:466650
HP:0012418	Hypoxemia	3043	HBB	ORPHA:232
HP:0012418	Hypoxemia	3043	HBB	OMIM:603903
HP:0012418	Hypoxemia	8929	PHOX2B	OMIM:209880
HP:0012418	Hypoxemia	4625	MYH7	ORPHA:1880
HP:0012418	Hypoxemia	3123	HLA-DRB1	ORPHA:747
HP:0012418	Hypoxemia	3123	HLA-DRB1	OMIM:181000
HP:0012418	Hypoxemia	2200	FBN1	ORPHA:284979
HP:0012418	Hypoxemia	959	CD40LG	OMIM:308230
HP:0012418	Hypoxemia	10559	SLC35A1	ORPHA:238459
HP:0012418	Hypoxemia	4141	MARS1	OMIM:615486
HP:0012418	Hypoxemia	6440	SFTPC	OMIM:610913
HP:0012418	Hypoxemia	6440	SFTPC	ORPHA:685082
HP:0012418	Hypoxemia	2022	ENG	OMIM:187300
HP:0012418	Hypoxemia	21	ABCA3	ORPHA:685082
HP:0012418	Hypoxemia	21	ABCA3	OMIM:610921
HP:0012418	Hypoxemia	6439	SFTPB	ORPHA:685082
HP:0012418	Hypoxemia	23019	CNOT1	ORPHA:556955
HP:0012418	Hypoxemia	1439	CSF2RB	ORPHA:264675
HP:0012418	Hypoxemia	1438	CSF2RA	ORPHA:264675
HP:0012418	Hypoxemia	56244	BTNL2	OMIM:612387
HP:0012418	Hypoxemia	2261	FGFR3	ORPHA:15
HP:0012418	Hypoxemia	440275	EIF2AK4	ORPHA:199241
HP:0012418	Hypoxemia	57190	SELENON	ORPHA:2020
HP:0012418	Hypoxemia	58	ACTA1	ORPHA:2020
HP:0012418	Hypoxemia	4633	MYL2	ORPHA:2020
HP:0012418	Hypoxemia	3679	ITGA7	ORPHA:2020
HP:0012418	Hypoxemia	7169	TPM2	ORPHA:2020
HP:0012418	Hypoxemia	9200	HACD1	ORPHA:2020
HP:0012418	Hypoxemia	7170	TPM3	ORPHA:2020
HP:0012418	Hypoxemia	51776	MAP3K20	ORPHA:2020
HP:0012418	Hypoxemia	51651	PTRH2	ORPHA:456312
HP:0012418	Hypoxemia	23414	ZFPM2	ORPHA:2140
HP:0012418	Hypoxemia	9361	LONP1	ORPHA:2140
HP:0012418	Hypoxemia	2627	GATA6	ORPHA:2140
HP:0012418	Hypoxemia	10568	SLC34A2	ORPHA:60025
HP:0012418	Hypoxemia	6662	SOX9	ORPHA:718
HP:0012418	Hypoxemia	7080	NKX2-1	OMIM:610978
HP:0012418	Hypoxemia	246329	STAC3	OMIM:255995
HP:0012418	Hypoxemia	6005	RHAG	ORPHA:71275
HP:0012418	Hypoxemia	6006	RHCE	ORPHA:71275
HP:0012418	Hypoxemia	6007	RHD	ORPHA:71275
HP:0012418	Hypoxemia	729238	SFTPA2	ORPHA:2032
HP:0012418	Hypoxemia	79991	STN1	ORPHA:2032
HP:0012418	Hypoxemia	653509	SFTPA1	ORPHA:2032
HP:0012418	Hypoxemia	1832	DSP	ORPHA:2032
HP:0012418	Hypoxemia	727897	MUC5B	ORPHA:2032
HP:0012418	Hypoxemia	10144	FAM13A	ORPHA:2032
HP:0012418	Hypoxemia	23250	ATP11A	ORPHA:2032
HP:0012418	Hypoxemia	91039	DPP9	ORPHA:2032
HP:0012418	Hypoxemia	51750	RTEL1	ORPHA:2032
HP:0012418	Hypoxemia	7012	TERC	ORPHA:2032
HP:0012418	Hypoxemia	5073	PARN	ORPHA:2032
HP:0012418	Hypoxemia	7015	TERT	ORPHA:2032
HP:0007110	Central hypoventilation	1639	DCTN1	ORPHA:178509
HP:0007110	Central hypoventilation	1639	DCTN1	OMIM:168605
HP:0007110	Central hypoventilation	4204	MECP2	OMIM:300673
HP:0007110	Central hypoventilation	91942	NDUFAF2	OMIM:618233
HP:0007110	Central hypoventilation	3198	HOXA1	OMIM:601536
HP:0007110	Central hypoventilation	10660	LBX1	OMIM:619483
HP:0007110	Central hypoventilation	84665	MYPN	ORPHA:171881
HP:0007110	Central hypoventilation	7169	TPM2	ORPHA:171881
HP:0007110	Central hypoventilation	7170	TPM3	ORPHA:171881
HP:0007110	Central hypoventilation	8929	PHOX2B	OMIM:209880
HP:0007110	Central hypoventilation	8929	PHOX2B	ORPHA:99803
HP:0007110	Central hypoventilation	5979	RET	ORPHA:99803
HP:0007110	Central hypoventilation	429	ASCL1	ORPHA:99803
HP:0007110	Central hypoventilation	54675	CRLS1	OMIM:620167
HP:0007112	Temporal cortical atrophy	5147	PDE6D	OMIM:615665
HP:0007112	Temporal cortical atrophy	5664	PSEN2	OMIM:606889
HP:0007112	Temporal cortical atrophy	348	APOE	OMIM:606889
HP:0007112	Temporal cortical atrophy	4983	OPHN1	ORPHA:137831
HP:0007112	Temporal cortical atrophy	7415	VCP	OMIM:167320
HP:0007112	Temporal cortical atrophy	7415	VCP	ORPHA:100070
HP:0007112	Temporal cortical atrophy	104	ADARB1	OMIM:618862
HP:0007112	Temporal cortical atrophy	1528	CYB5A	ORPHA:621
HP:0007112	Temporal cortical atrophy	1727	CYB5R3	ORPHA:621
HP:0007112	Temporal cortical atrophy	9382	COG1	ORPHA:263508
HP:0007112	Temporal cortical atrophy	25978	CHMP2B	ORPHA:100070
HP:0007112	Temporal cortical atrophy	5663	PSEN1	ORPHA:100070
HP:0007112	Temporal cortical atrophy	2896	GRN	ORPHA:100070
HP:0007112	Temporal cortical atrophy	54664	TMEM106B	ORPHA:100070
HP:0007112	Temporal cortical atrophy	4137	MAPT	ORPHA:100070
HP:0007112	Temporal cortical atrophy	54209	TREM2	ORPHA:100070
HP:0007112	Temporal cortical atrophy	23261	CAMTA1	OMIM:614756
HP:0007112	Temporal cortical atrophy	100151683	RNU4ATAC	ORPHA:353298
HP:0007112	Temporal cortical atrophy	2917	GRM7	OMIM:618922
HP:0007112	Temporal cortical atrophy	5927	KDM5A	OMIM:620820
HP:0007112	Temporal cortical atrophy	26834	RNU4-2	OMIM:620851
HP:0007112	Temporal cortical atrophy	57094	CPA6	OMIM:614418
HP:0007112	Temporal cortical atrophy	29998	BICRA	OMIM:619325
HP:0007112	Temporal cortical atrophy	4750	NEK1	OMIM:617892
HP:0007112	Temporal cortical atrophy	84631	SLITRK2	OMIM:301107
HP:0007112	Temporal cortical atrophy	10347	ABCA7	OMIM:608907
HP:0002071	Abnormality of extrapyramidal motor function	6622	SNCA	OMIM:605543
HP:0002071	Abnormality of extrapyramidal motor function	6622	SNCA	ORPHA:411602
HP:0002071	Abnormality of extrapyramidal motor function	6622	SNCA	OMIM:127750
HP:0002071	Abnormality of extrapyramidal motor function	6622	SNCA	ORPHA:171695
HP:0002071	Abnormality of extrapyramidal motor function	6622	SNCA	OMIM:168601
HP:0002071	Abnormality of extrapyramidal motor function	10159	ATP6AP2	OMIM:300911
HP:0002071	Abnormality of extrapyramidal motor function	10159	ATP6AP2	OMIM:300423
HP:0002071	Abnormality of extrapyramidal motor function	23516	SLC39A14	OMIM:617013
HP:0002071	Abnormality of extrapyramidal motor function	23516	SLC39A14	ORPHA:521406
HP:0002071	Abnormality of extrapyramidal motor function	4353	MPO	OMIM:104300
HP:0002071	Abnormality of extrapyramidal motor function	4846	NOS3	OMIM:104300
HP:0002071	Abnormality of extrapyramidal motor function	5328	PLAU	OMIM:104300
HP:0002071	Abnormality of extrapyramidal motor function	351	APP	OMIM:104300
HP:0002071	Abnormality of extrapyramidal motor function	351	APP	ORPHA:1020
HP:0002071	Abnormality of extrapyramidal motor function	84320	ACBD6	OMIM:620785
HP:0002071	Abnormality of extrapyramidal motor function	6571	SLC18A2	ORPHA:352649
HP:0002071	Abnormality of extrapyramidal motor function	6571	SLC18A2	OMIM:618049
HP:0002071	Abnormality of extrapyramidal motor function	27235	COQ2	OMIM:146500
HP:0002071	Abnormality of extrapyramidal motor function	27235	COQ2	ORPHA:98933
HP:0002071	Abnormality of extrapyramidal motor function	27235	COQ2	ORPHA:227510
HP:0002071	Abnormality of extrapyramidal motor function	478	ATP1A3	OMIM:128235
HP:0002071	Abnormality of extrapyramidal motor function	478	ATP1A3	ORPHA:71517
HP:0002071	Abnormality of extrapyramidal motor function	5521	PPP2R2B	OMIM:604326
HP:0002071	Abnormality of extrapyramidal motor function	5521	PPP2R2B	ORPHA:98762
HP:0002071	Abnormality of extrapyramidal motor function	6531	SLC6A3	ORPHA:238455
HP:0002071	Abnormality of extrapyramidal motor function	6531	SLC6A3	OMIM:613135
HP:0002071	Abnormality of extrapyramidal motor function	1822	ATN1	OMIM:125370
HP:0002071	Abnormality of extrapyramidal motor function	84909	AOPEP	OMIM:619565
HP:0002071	Abnormality of extrapyramidal motor function	56521	DNAJC12	OMIM:617384
HP:0002071	Abnormality of extrapyramidal motor function	6311	ATXN2	OMIM:183090
HP:0002071	Abnormality of extrapyramidal motor function	6311	ATXN2	ORPHA:98756
HP:0002071	Abnormality of extrapyramidal motor function	6311	ATXN2	OMIM:168600
HP:0002071	Abnormality of extrapyramidal motor function	5155	PDGFB	OMIM:615483
HP:0002071	Abnormality of extrapyramidal motor function	5155	PDGFB	OMIM:213600
HP:0002071	Abnormality of extrapyramidal motor function	5575	PRKAR1B	ORPHA:412066
HP:0002071	Abnormality of extrapyramidal motor function	5159	PDGFRB	OMIM:615007
HP:0002071	Abnormality of extrapyramidal motor function	5159	PDGFRB	OMIM:213600
HP:0002071	Abnormality of extrapyramidal motor function	5610	EIF2AK2	OMIM:618877
HP:0002071	Abnormality of extrapyramidal motor function	3781	KCNN2	OMIM:619725
HP:0002071	Abnormality of extrapyramidal motor function	11152	WDR45	ORPHA:329284
HP:0002071	Abnormality of extrapyramidal motor function	11152	WDR45	OMIM:300894
HP:0002071	Abnormality of extrapyramidal motor function	9829	DNAJC6	OMIM:615528
HP:0002071	Abnormality of extrapyramidal motor function	54822	TRPM7	OMIM:105500
HP:0002071	Abnormality of extrapyramidal motor function	5071	PRKN	OMIM:600116
HP:0002071	Abnormality of extrapyramidal motor function	8575	PRKRA	ORPHA:210571
HP:0002071	Abnormality of extrapyramidal motor function	8575	PRKRA	OMIM:612067
HP:0002071	Abnormality of extrapyramidal motor function	4204	MECP2	OMIM:300055
HP:0002071	Abnormality of extrapyramidal motor function	4204	MECP2	ORPHA:3077
HP:0002071	Abnormality of extrapyramidal motor function	8867	SYNJ1	OMIM:615530
HP:0002071	Abnormality of extrapyramidal motor function	55737	VPS35	OMIM:614203
HP:0002071	Abnormality of extrapyramidal motor function	55737	VPS35	ORPHA:411602
HP:0002071	Abnormality of extrapyramidal motor function	10352	WARS2	OMIM:619738
HP:0002071	Abnormality of extrapyramidal motor function	4358	MPV17	OMIM:256810
HP:0002071	Abnormality of extrapyramidal motor function	2629	GBA1	ORPHA:411602
HP:0002071	Abnormality of extrapyramidal motor function	2629	GBA1	OMIM:127750
HP:0002071	Abnormality of extrapyramidal motor function	2629	GBA1	OMIM:168600
HP:0002071	Abnormality of extrapyramidal motor function	2629	GBA1	ORPHA:77259
HP:0002071	Abnormality of extrapyramidal motor function	23317	DNAJC13	ORPHA:411602
HP:0002071	Abnormality of extrapyramidal motor function	1981	EIF4G1	ORPHA:411602
HP:0002071	Abnormality of extrapyramidal motor function	1981	EIF4G1	OMIM:614251
HP:0002071	Abnormality of extrapyramidal motor function	120892	LRRK2	ORPHA:411602
HP:0002071	Abnormality of extrapyramidal motor function	120892	LRRK2	OMIM:607060
HP:0002071	Abnormality of extrapyramidal motor function	26058	GIGYF2	ORPHA:411602
HP:0002071	Abnormality of extrapyramidal motor function	10939	AFG3L2	OMIM:610246
HP:0002071	Abnormality of extrapyramidal motor function	10939	AFG3L2	ORPHA:101109
HP:0002071	Abnormality of extrapyramidal motor function	6575	SLC20A2	OMIM:213600
HP:0002071	Abnormality of extrapyramidal motor function	116442	RAB39B	OMIM:311510
HP:0002071	Abnormality of extrapyramidal motor function	1312	COMT	ORPHA:567
HP:0002071	Abnormality of extrapyramidal motor function	221037	JMJD1C	ORPHA:567
HP:0002071	Abnormality of extrapyramidal motor function	2812	GP1BB	ORPHA:567
HP:0002071	Abnormality of extrapyramidal motor function	6239	RREB1	ORPHA:567
HP:0002071	Abnormality of extrapyramidal motor function	6899	TBX1	ORPHA:567
HP:0002071	Abnormality of extrapyramidal motor function	7290	HIRA	ORPHA:567
HP:0002071	Abnormality of extrapyramidal motor function	9632	SEC24C	ORPHA:567
HP:0002071	Abnormality of extrapyramidal motor function	7353	UFD1	ORPHA:567
HP:0002071	Abnormality of extrapyramidal motor function	421	ARVCF	ORPHA:567
HP:0002071	Abnormality of extrapyramidal motor function	2332	FMR1	ORPHA:93256
HP:0002071	Abnormality of extrapyramidal motor function	2332	FMR1	OMIM:300623
HP:0002071	Abnormality of extrapyramidal motor function	23400	ATP13A2	OMIM:606693
HP:0002071	Abnormality of extrapyramidal motor function	23400	ATP13A2	ORPHA:306674
HP:0002071	Abnormality of extrapyramidal motor function	23400	ATP13A2	OMIM:617225
HP:0002071	Abnormality of extrapyramidal motor function	10273	STUB1	OMIM:618093
HP:0002071	Abnormality of extrapyramidal motor function	23230	VPS13A	ORPHA:2388
HP:0002071	Abnormality of extrapyramidal motor function	23230	VPS13A	OMIM:200150
HP:0002071	Abnormality of extrapyramidal motor function	8398	PLA2G6	OMIM:612953
HP:0002071	Abnormality of extrapyramidal motor function	9907	AP5Z1	OMIM:613647
HP:0002071	Abnormality of extrapyramidal motor function	9907	AP5Z1	ORPHA:306511
HP:0002071	Abnormality of extrapyramidal motor function	57338	JPH3	ORPHA:98934
HP:0002071	Abnormality of extrapyramidal motor function	6908	TBP	OMIM:607136
HP:0002071	Abnormality of extrapyramidal motor function	6908	TBP	ORPHA:98759
HP:0002071	Abnormality of extrapyramidal motor function	6908	TBP	OMIM:168600
HP:0002071	Abnormality of extrapyramidal motor function	5092	PCBD1	ORPHA:1578
HP:0002071	Abnormality of extrapyramidal motor function	2512	FTL	OMIM:606159
HP:0002071	Abnormality of extrapyramidal motor function	2512	FTL	ORPHA:157846
HP:0002071	Abnormality of extrapyramidal motor function	65018	PINK1	OMIM:605909
HP:0002071	Abnormality of extrapyramidal motor function	58494	JAM2	OMIM:618824
HP:0002071	Abnormality of extrapyramidal motor function	391356	PTRHD1	OMIM:620747
HP:0002071	Abnormality of extrapyramidal motor function	10846	PDE10A	OMIM:616922
HP:0002071	Abnormality of extrapyramidal motor function	6335	SCN9A	ORPHA:33069
HP:0002071	Abnormality of extrapyramidal motor function	6326	SCN2A	ORPHA:33069
HP:0002071	Abnormality of extrapyramidal motor function	2554	GABRA1	ORPHA:33069
HP:0002071	Abnormality of extrapyramidal motor function	6323	SCN1A	ORPHA:33069
HP:0002071	Abnormality of extrapyramidal motor function	6324	SCN1B	ORPHA:33069
HP:0002071	Abnormality of extrapyramidal motor function	57526	PCDH19	ORPHA:33069
HP:0002071	Abnormality of extrapyramidal motor function	2566	GABRG2	ORPHA:33069
HP:0002071	Abnormality of extrapyramidal motor function	203228	C9orf72	OMIM:105550
HP:0002071	Abnormality of extrapyramidal motor function	10280	SIGMAR1	ORPHA:300605
HP:0002071	Abnormality of extrapyramidal motor function	10558	SPTLC1	ORPHA:300605
HP:0002071	Abnormality of extrapyramidal motor function	57679	ALS2	ORPHA:300605
HP:0002071	Abnormality of extrapyramidal motor function	9213	XPR1	OMIM:616413
HP:0002071	Abnormality of extrapyramidal motor function	57462	MYORG	OMIM:618317
HP:0002071	Abnormality of extrapyramidal motor function	6620	SNCB	OMIM:127750
HP:0002071	Abnormality of extrapyramidal motor function	4854	NOTCH3	ORPHA:136
HP:0002071	Abnormality of extrapyramidal motor function	80347	COASY	ORPHA:397725
HP:0002071	Abnormality of extrapyramidal motor function	1436	CSF1R	OMIM:221820
HP:0002071	Abnormality of extrapyramidal motor function	7143	TNR	OMIM:619653
HP:0002071	Abnormality of extrapyramidal motor function	847	CAT	ORPHA:926
HP:0002071	Abnormality of extrapyramidal motor function	5664	PSEN2	ORPHA:1020
HP:0002071	Abnormality of extrapyramidal motor function	10452	TOMM40	ORPHA:1020
HP:0002071	Abnormality of extrapyramidal motor function	6653	SORL1	ORPHA:1020
HP:0002071	Abnormality of extrapyramidal motor function	3798	KIF5A	ORPHA:100991
HP:0002071	Abnormality of extrapyramidal motor function	3798	KIF5A	OMIM:604187
HP:0002071	Abnormality of extrapyramidal motor function	126	ADH1C	OMIM:168600
HP:0002071	Abnormality of extrapyramidal motor function	4576	MT-TT	OMIM:168600
HP:0002071	Abnormality of extrapyramidal motor function	9627	SNCAIP	OMIM:168600
HP:0002071	Abnormality of extrapyramidal motor function	6315	ATXN8OS	OMIM:168600
HP:0002071	Abnormality of extrapyramidal motor function	950	SCARB2	ORPHA:77259
HP:0002071	Abnormality of extrapyramidal motor function	3064	HTT	ORPHA:399
HP:0002071	Abnormality of extrapyramidal motor function	3064	HTT	OMIM:143100
HP:0002071	Abnormality of extrapyramidal motor function	3064	HTT	ORPHA:248111
HP:0002071	Abnormality of extrapyramidal motor function	3064	HTT	OMIM:617435
HP:0002071	Abnormality of extrapyramidal motor function	6515	SLC2A3	ORPHA:399
HP:0002071	Abnormality of extrapyramidal motor function	51062	ATL1	ORPHA:100984
HP:0002071	Abnormality of extrapyramidal motor function	7384	UQCRC1	OMIM:619279
HP:0002071	Abnormality of extrapyramidal motor function	7084	TK2	ORPHA:254886
HP:0002071	Abnormality of extrapyramidal motor function	26011	TENM4	OMIM:616736
HP:0002071	Abnormality of extrapyramidal motor function	27102	EIF2AK1	OMIM:618878
HP:0002071	Abnormality of extrapyramidal motor function	51204	TACO1	OMIM:619052
HP:0002071	Abnormality of extrapyramidal motor function	8622	PDE8B	OMIM:609161
HP:0002071	Abnormality of extrapyramidal motor function	8622	PDE8B	ORPHA:228169
HP:0002071	Abnormality of extrapyramidal motor function	79947	DHDDS	OMIM:617836
HP:0002071	Abnormality of extrapyramidal motor function	100303755	PET117	OMIM:619063
HP:0002071	Abnormality of extrapyramidal motor function	11315	PARK7	OMIM:606324
HP:0002071	Abnormality of extrapyramidal motor function	11315	PARK7	ORPHA:2828
HP:0002071	Abnormality of extrapyramidal motor function	10935	PRDX3	OMIM:619862
HP:0002071	Abnormality of extrapyramidal motor function	51271	UBAP1	OMIM:618418
HP:0002071	Abnormality of extrapyramidal motor function	7345	UCHL1	OMIM:613643
HP:0002071	Abnormality of extrapyramidal motor function	7345	UCHL1	ORPHA:2828
HP:0002071	Abnormality of extrapyramidal motor function	54832	VPS13C	ORPHA:2828
HP:0002071	Abnormality of extrapyramidal motor function	27429	HTRA2	ORPHA:2828
HP:0002071	Abnormality of extrapyramidal motor function	27429	HTRA2	OMIM:610297
HP:0002071	Abnormality of extrapyramidal motor function	5420	PODXL	ORPHA:2828
HP:0002071	Abnormality of extrapyramidal motor function	5420	PODXL	ORPHA:391411
HP:0002071	Abnormality of extrapyramidal motor function	112755	STX1B	ORPHA:36387
HP:0002071	Abnormality of extrapyramidal motor function	2563	GABRD	ORPHA:36387
HP:0002071	Abnormality of extrapyramidal motor function	112476	PRRT2	ORPHA:36387
HP:0002071	Abnormality of extrapyramidal motor function	348980	HCN1	ORPHA:36387
HP:0002071	Abnormality of extrapyramidal motor function	2258	FGF13	ORPHA:36387
HP:0002071	Abnormality of extrapyramidal motor function	2258	FGF13	OMIM:301095
HP:0002071	Abnormality of extrapyramidal motor function	84059	ADGRV1	ORPHA:36387
HP:0002071	Abnormality of extrapyramidal motor function	1213	CLTC	OMIM:617854
HP:0002071	Abnormality of extrapyramidal motor function	54902	TTC19	OMIM:615157
HP:0002071	Abnormality of extrapyramidal motor function	3748	KCNC3	ORPHA:98768
HP:0002071	Abnormality of extrapyramidal motor function	6872	TAF1	ORPHA:53351
HP:0002071	Abnormality of extrapyramidal motor function	6697	SPR	ORPHA:70594
HP:0002071	Abnormality of extrapyramidal motor function	724066	ATXN8	ORPHA:98760
HP:0002071	Abnormality of extrapyramidal motor function	10667	FARS2	ORPHA:466722
HP:0002071	Abnormality of extrapyramidal motor function	84833	ATP5MK	OMIM:618683
HP:0002071	Abnormality of extrapyramidal motor function	84665	MYPN	ORPHA:171439
HP:0002071	Abnormality of extrapyramidal motor function	58	ACTA1	ORPHA:171439
HP:0002071	Abnormality of extrapyramidal motor function	7169	TPM2	ORPHA:171439
HP:0002071	Abnormality of extrapyramidal motor function	390594	KBTBD13	ORPHA:171439
HP:0002071	Abnormality of extrapyramidal motor function	4703	NEB	ORPHA:171439
HP:0002071	Abnormality of extrapyramidal motor function	10324	KLHL41	ORPHA:171439
HP:0002071	Abnormality of extrapyramidal motor function	7170	TPM3	ORPHA:171439
HP:0002071	Abnormality of extrapyramidal motor function	124454	EARS2	OMIM:614924
HP:0002071	Abnormality of extrapyramidal motor function	5524	PTPA	OMIM:620482
HP:0002071	Abnormality of extrapyramidal motor function	85300	ATCAY	OMIM:601238
HP:0002071	Abnormality of extrapyramidal motor function	51142	CHCHD2	OMIM:616710
HP:0002071	Abnormality of extrapyramidal motor function	55367	PIDD1	OMIM:619827
HP:0002071	Abnormality of extrapyramidal motor function	5274	SERPINI1	OMIM:604218
HP:0002071	Abnormality of extrapyramidal motor function	291	SLC25A4	ORPHA:254892
HP:0002071	Abnormality of extrapyramidal motor function	5428	POLG	ORPHA:254892
HP:0002071	Abnormality of extrapyramidal motor function	56652	TWNK	ORPHA:254892
HP:0002071	Abnormality of extrapyramidal motor function	11232	POLG2	ORPHA:254892
HP:0002071	Abnormality of extrapyramidal motor function	50484	RRM2B	ORPHA:254892
HP:0002071	Abnormality of extrapyramidal motor function	875	CBS	ORPHA:394
HP:0002071	Abnormality of extrapyramidal motor function	23769	FLRT1	ORPHA:320406
HP:0002071	Abnormality of extrapyramidal motor function	64837	KLC2	ORPHA:320406
HP:0002071	Abnormality of extrapyramidal motor function	4287	ATXN3	OMIM:109150
HP:0002071	Abnormality of extrapyramidal motor function	4287	ATXN3	ORPHA:276238
HP:0002071	Abnormality of extrapyramidal motor function	4287	ATXN3	ORPHA:276244
HP:0002071	Abnormality of extrapyramidal motor function	4287	ATXN3	ORPHA:276241
HP:0002071	Abnormality of extrapyramidal motor function	374291	NDUFS7	OMIM:618224
HP:0002071	Abnormality of extrapyramidal motor function	1356	CP	OMIM:604290
HP:0002071	Abnormality of extrapyramidal motor function	79903	NAA60	OMIM:620786
HP:0002071	Abnormality of extrapyramidal motor function	23345	SYNE1	OMIM:610743
HP:0002071	Abnormality of extrapyramidal motor function	9256	TSPOAP1	ORPHA:101150
HP:0002071	Abnormality of extrapyramidal motor function	7054	TH	ORPHA:101150
HP:0002071	Abnormality of extrapyramidal motor function	7054	TH	OMIM:605407
HP:0002071	Abnormality of extrapyramidal motor function	2521	FUS	ORPHA:275872
HP:0002071	Abnormality of extrapyramidal motor function	8878	SQSTM1	ORPHA:275872
HP:0002071	Abnormality of extrapyramidal motor function	8878	SQSTM1	ORPHA:275864
HP:0002071	Abnormality of extrapyramidal motor function	7415	VCP	ORPHA:275872
HP:0002071	Abnormality of extrapyramidal motor function	7415	VCP	ORPHA:275864
HP:0002071	Abnormality of extrapyramidal motor function	7415	VCP	ORPHA:100070
HP:0002071	Abnormality of extrapyramidal motor function	23435	TARDBP	ORPHA:275872
HP:0002071	Abnormality of extrapyramidal motor function	29110	TBK1	ORPHA:275872
HP:0002071	Abnormality of extrapyramidal motor function	400916	CHCHD10	ORPHA:275872
HP:0002071	Abnormality of extrapyramidal motor function	80207	OPA3	OMIM:165300
HP:0002071	Abnormality of extrapyramidal motor function	80207	OPA3	OMIM:258501
HP:0002071	Abnormality of extrapyramidal motor function	81570	CLPB	ORPHA:445038
HP:0002071	Abnormality of extrapyramidal motor function	5354	PLP1	ORPHA:99015
HP:0002071	Abnormality of extrapyramidal motor function	5354	PLP1	ORPHA:280219
HP:0002071	Abnormality of extrapyramidal motor function	2593	GAMT	ORPHA:382
HP:0002071	Abnormality of extrapyramidal motor function	3074	HEXB	ORPHA:309162
HP:0002071	Abnormality of extrapyramidal motor function	1639	DCTN1	ORPHA:178509
HP:0002071	Abnormality of extrapyramidal motor function	11277	TREX1	OMIM:225750
HP:0002071	Abnormality of extrapyramidal motor function	11277	TREX1	ORPHA:51
HP:0002071	Abnormality of extrapyramidal motor function	25814	ATXN10	OMIM:603516
HP:0002071	Abnormality of extrapyramidal motor function	79868	ALG13	OMIM:300884
HP:0002071	Abnormality of extrapyramidal motor function	51601	LIPT1	OMIM:616299
HP:0002071	Abnormality of extrapyramidal motor function	8722	CTSF	OMIM:615362
HP:0002071	Abnormality of extrapyramidal motor function	57465	TBC1D24	ORPHA:352596
HP:0002071	Abnormality of extrapyramidal motor function	57465	TBC1D24	OMIM:615338
HP:0002071	Abnormality of extrapyramidal motor function	54982	CLN6	OMIM:204300
HP:0002071	Abnormality of extrapyramidal motor function	6314	ATXN7	OMIM:164500
HP:0002071	Abnormality of extrapyramidal motor function	79944	L2HGDH	OMIM:236792
HP:0002071	Abnormality of extrapyramidal motor function	79944	L2HGDH	ORPHA:79314
HP:0002071	Abnormality of extrapyramidal motor function	23474	ETHE1	ORPHA:51188
HP:0002071	Abnormality of extrapyramidal motor function	23474	ETHE1	OMIM:602473
HP:0002071	Abnormality of extrapyramidal motor function	348	APOE	OMIM:607822
HP:0002071	Abnormality of extrapyramidal motor function	5663	PSEN1	OMIM:607822
HP:0002071	Abnormality of extrapyramidal motor function	5663	PSEN1	ORPHA:275864
HP:0002071	Abnormality of extrapyramidal motor function	5663	PSEN1	ORPHA:100070
HP:0002071	Abnormality of extrapyramidal motor function	727676	SNORD118	OMIM:614561
HP:0002071	Abnormality of extrapyramidal motor function	7343	UBTF	OMIM:617672
HP:0002071	Abnormality of extrapyramidal motor function	7343	UBTF	ORPHA:500180
HP:0002071	Abnormality of extrapyramidal motor function	128989	TANGO2	ORPHA:480864
HP:0002071	Abnormality of extrapyramidal motor function	2632	GBE1	ORPHA:206583
HP:0002071	Abnormality of extrapyramidal motor function	5805	PTS	ORPHA:13
HP:0002071	Abnormality of extrapyramidal motor function	51324	SPG21	ORPHA:101001
HP:0002071	Abnormality of extrapyramidal motor function	83636	C19orf12	OMIM:614298
HP:0002071	Abnormality of extrapyramidal motor function	10347	ABCA7	OMIM:608907
HP:0002071	Abnormality of extrapyramidal motor function	80208	SPG11	ORPHA:2822
HP:0002071	Abnormality of extrapyramidal motor function	388962	BOLA3	OMIM:614299
HP:0002071	Abnormality of extrapyramidal motor function	1201	CLN3	OMIM:204200
HP:0002071	Abnormality of extrapyramidal motor function	84947	SERAC1	OMIM:614739
HP:0002071	Abnormality of extrapyramidal motor function	3251	HPRT1	ORPHA:79233
HP:0002071	Abnormality of extrapyramidal motor function	3251	HPRT1	OMIM:300322
HP:0002071	Abnormality of extrapyramidal motor function	5621	PRNP	ORPHA:356
HP:0002071	Abnormality of extrapyramidal motor function	5621	PRNP	ORPHA:466
HP:0002071	Abnormality of extrapyramidal motor function	339453	TMEM240	ORPHA:98773
HP:0002071	Abnormality of extrapyramidal motor function	339453	TMEM240	OMIM:607454
HP:0002071	Abnormality of extrapyramidal motor function	10367	MICU1	OMIM:615673
HP:0002071	Abnormality of extrapyramidal motor function	27089	UQCRQ	OMIM:615159
HP:0002071	Abnormality of extrapyramidal motor function	1593	CYP27A1	ORPHA:909
HP:0002071	Abnormality of extrapyramidal motor function	2643	GCH1	ORPHA:98808
HP:0002071	Abnormality of extrapyramidal motor function	4929	NR4A2	ORPHA:98808
HP:0002071	Abnormality of extrapyramidal motor function	3615	IMPDH2	ORPHA:98808
HP:0002071	Abnormality of extrapyramidal motor function	6804	STX1A	ORPHA:904
HP:0002071	Abnormality of extrapyramidal motor function	7461	CLIP2	ORPHA:904
HP:0002071	Abnormality of extrapyramidal motor function	84277	DNAJC30	ORPHA:904
HP:0002071	Abnormality of extrapyramidal motor function	8468	FKBP6	ORPHA:904
HP:0002071	Abnormality of extrapyramidal motor function	5982	RFC2	ORPHA:904
HP:0002071	Abnormality of extrapyramidal motor function	2969	GTF2I	ORPHA:904
HP:0002071	Abnormality of extrapyramidal motor function	3984	LIMK1	ORPHA:904
HP:0002071	Abnormality of extrapyramidal motor function	9569	GTF2IRD1	ORPHA:904
HP:0002071	Abnormality of extrapyramidal motor function	155382	VPS37D	ORPHA:904
HP:0002071	Abnormality of extrapyramidal motor function	155368	METTL27	ORPHA:904
HP:0002071	Abnormality of extrapyramidal motor function	114049	BUD23	ORPHA:904
HP:0002071	Abnormality of extrapyramidal motor function	7458	EIF4H	ORPHA:904
HP:0002071	Abnormality of extrapyramidal motor function	84163	GTF2IRD2	ORPHA:904
HP:0002071	Abnormality of extrapyramidal motor function	26608	TBL2	ORPHA:904
HP:0002071	Abnormality of extrapyramidal motor function	653361	NCF1	ORPHA:904
HP:0002071	Abnormality of extrapyramidal motor function	135886	TMEM270	ORPHA:904
HP:0002071	Abnormality of extrapyramidal motor function	9031	BAZ1B	ORPHA:904
HP:0002071	Abnormality of extrapyramidal motor function	2006	ELN	ORPHA:904
HP:0002071	Abnormality of extrapyramidal motor function	80025	PANK2	OMIM:234200
HP:0002071	Abnormality of extrapyramidal motor function	1130	LYST	ORPHA:352723
HP:0002071	Abnormality of extrapyramidal motor function	492	ATP2B3	OMIM:302500
HP:0002071	Abnormality of extrapyramidal motor function	9373	PLAA	ORPHA:521426
HP:0002071	Abnormality of extrapyramidal motor function	9373	PLAA	OMIM:617527
HP:0002071	Abnormality of extrapyramidal motor function	219285	SAMD9L	OMIM:619806
HP:0002071	Abnormality of extrapyramidal motor function	8314	BAP1	ORPHA:618
HP:0002071	Abnormality of extrapyramidal motor function	4286	MITF	ORPHA:618
HP:0002071	Abnormality of extrapyramidal motor function	1019	CDK4	ORPHA:618
HP:0002071	Abnormality of extrapyramidal motor function	4255	MGMT	ORPHA:618
HP:0002071	Abnormality of extrapyramidal motor function	54386	TERF2IP	ORPHA:618
HP:0002071	Abnormality of extrapyramidal motor function	4157	MC1R	ORPHA:618
HP:0002071	Abnormality of extrapyramidal motor function	65057	ACD	ORPHA:618
HP:0002071	Abnormality of extrapyramidal motor function	1029	CDKN2A	ORPHA:618
HP:0002071	Abnormality of extrapyramidal motor function	7015	TERT	ORPHA:618
HP:0002071	Abnormality of extrapyramidal motor function	25913	POT1	ORPHA:618
HP:0002071	Abnormality of extrapyramidal motor function	1030	CDKN2B	ORPHA:618
HP:0002071	Abnormality of extrapyramidal motor function	3708	ITPR1	OMIM:117360
HP:0002071	Abnormality of extrapyramidal motor function	3708	ITPR1	OMIM:206700
HP:0002071	Abnormality of extrapyramidal motor function	9562	MINPP1	OMIM:619527
HP:0002071	Abnormality of extrapyramidal motor function	540	ATP7B	OMIM:277900
HP:0002071	Abnormality of extrapyramidal motor function	5917	RARS1	OMIM:616140
HP:0002071	Abnormality of extrapyramidal motor function	5654	HTRA1	OMIM:600142
HP:0002071	Abnormality of extrapyramidal motor function	6567	SLC16A2	ORPHA:59
HP:0002071	Abnormality of extrapyramidal motor function	27247	NFU1	OMIM:605711
HP:0002071	Abnormality of extrapyramidal motor function	80067	DCAF17	OMIM:241080
HP:0002071	Abnormality of extrapyramidal motor function	80331	DNAJC5	OMIM:162350
HP:0002071	Abnormality of extrapyramidal motor function	55532	SLC30A10	OMIM:613280
HP:0002071	Abnormality of extrapyramidal motor function	23503	ZFYVE26	ORPHA:100996
HP:0002071	Abnormality of extrapyramidal motor function	25793	FBXO7	OMIM:260300
HP:0002071	Abnormality of extrapyramidal motor function	80169	CTC1	OMIM:612199
HP:0002071	Abnormality of extrapyramidal motor function	25978	CHMP2B	ORPHA:275864
HP:0002071	Abnormality of extrapyramidal motor function	25978	CHMP2B	ORPHA:100070
HP:0002071	Abnormality of extrapyramidal motor function	2896	GRN	ORPHA:275864
HP:0002071	Abnormality of extrapyramidal motor function	2896	GRN	ORPHA:100070
HP:0002071	Abnormality of extrapyramidal motor function	54664	TMEM106B	ORPHA:275864
HP:0002071	Abnormality of extrapyramidal motor function	54664	TMEM106B	ORPHA:100070
HP:0002071	Abnormality of extrapyramidal motor function	4137	MAPT	ORPHA:275864
HP:0002071	Abnormality of extrapyramidal motor function	4137	MAPT	ORPHA:100070
HP:0002071	Abnormality of extrapyramidal motor function	54209	TREM2	ORPHA:275864
HP:0002071	Abnormality of extrapyramidal motor function	54209	TREM2	ORPHA:100070
HP:0002071	Abnormality of extrapyramidal motor function	10535	RNASEH2A	ORPHA:51
HP:0002071	Abnormality of extrapyramidal motor function	84153	RNASEH2C	ORPHA:51
HP:0002071	Abnormality of extrapyramidal motor function	25939	SAMHD1	ORPHA:51
HP:0002071	Abnormality of extrapyramidal motor function	79621	RNASEH2B	ORPHA:51
HP:0002071	Abnormality of extrapyramidal motor function	103	ADAR	ORPHA:51
HP:0002071	Abnormality of extrapyramidal motor function	100147744	RNU7-1	ORPHA:51
HP:0002071	Abnormality of extrapyramidal motor function	134353	LSM11	ORPHA:51
HP:0002071	Abnormality of extrapyramidal motor function	64135	IFIH1	ORPHA:51
HP:0002071	Abnormality of extrapyramidal motor function	6310	ATXN1	OMIM:164400
HP:0002071	Abnormality of extrapyramidal motor function	4668	NAGA	ORPHA:79279
HP:0002071	Abnormality of extrapyramidal motor function	5052	PRDX1	OMIM:277400
HP:0002071	Abnormality of extrapyramidal motor function	25974	MMACHC	OMIM:277400
HP:0002071	Abnormality of extrapyramidal motor function	2068	ERCC2	ORPHA:910
HP:0002071	Abnormality of extrapyramidal motor function	7507	XPA	ORPHA:910
HP:0002071	Abnormality of extrapyramidal motor function	2071	ERCC3	ORPHA:910
HP:0002071	Abnormality of extrapyramidal motor function	7508	XPC	ORPHA:910
HP:0002071	Abnormality of extrapyramidal motor function	1643	DDB2	ORPHA:910
HP:0002071	Abnormality of extrapyramidal motor function	2072	ERCC4	ORPHA:910
HP:0002071	Abnormality of extrapyramidal motor function	2073	ERCC5	ORPHA:910
HP:0002071	Abnormality of extrapyramidal motor function	22906	TRAK1	OMIM:618201
HP:0002071	Abnormality of extrapyramidal motor function	10588	MTHFS	OMIM:618367
HP:0002071	Abnormality of extrapyramidal motor function	440	ASNS	OMIM:615574
HP:0002071	Abnormality of extrapyramidal motor function	51501	HIKESHI	OMIM:616881
HP:0002071	Abnormality of extrapyramidal motor function	23229	ARHGEF9	ORPHA:163985
HP:0002071	Abnormality of extrapyramidal motor function	23229	ARHGEF9	OMIM:300607
HP:0002071	Abnormality of extrapyramidal motor function	2495	FTH1	OMIM:620669
HP:0002071	Abnormality of extrapyramidal motor function	400569	MED11	OMIM:620327
HP:0002071	Abnormality of extrapyramidal motor function	2653	GCSH	OMIM:620423
HP:0002071	Abnormality of extrapyramidal motor function	2218	FKTN	OMIM:253800
HP:0002071	Abnormality of extrapyramidal motor function	3073	HEXA	OMIM:272800
HP:0002071	Abnormality of extrapyramidal motor function	23258	DENND5A	OMIM:617281
HP:0002071	Abnormality of extrapyramidal motor function	7259	TSPYL1	OMIM:608800
HP:0002071	Abnormality of extrapyramidal motor function	2760	GM2A	ORPHA:309246
HP:0002071	Abnormality of extrapyramidal motor function	2760	GM2A	OMIM:272750
HP:0002071	Abnormality of extrapyramidal motor function	7750	ZMYM2	OMIM:619522
HP:0002071	Abnormality of extrapyramidal motor function	6647	SOD1	OMIM:618598
HP:0002071	Abnormality of extrapyramidal motor function	6536	SLC6A9	OMIM:617301
HP:0002071	Abnormality of extrapyramidal motor function	5277	PIGA	OMIM:300868
HP:0002071	Abnormality of extrapyramidal motor function	221927	BRAT1	OMIM:618056
HP:0002071	Abnormality of extrapyramidal motor function	5813	PURA	ORPHA:438216
HP:0002071	Abnormality of extrapyramidal motor function	2893	GRIA4	OMIM:617864
HP:0002071	Abnormality of extrapyramidal motor function	23043	TNIK	OMIM:617028
HP:0002071	Abnormality of extrapyramidal motor function	10243	GPHN	OMIM:149400
HP:0002071	Abnormality of extrapyramidal motor function	2741	GLRA1	OMIM:149400
HP:0002071	Abnormality of extrapyramidal motor function	1644	DDC	OMIM:608643
HP:0002071	Abnormality of extrapyramidal motor function	9152	SLC6A5	OMIM:614618
HP:0002071	Abnormality of extrapyramidal motor function	8911	CACNA1I	OMIM:620114
HP:0002071	Abnormality of extrapyramidal motor function	2720	GLB1	ORPHA:79255
HP:0002071	Abnormality of extrapyramidal motor function	79736	TEFM	OMIM:620451
HP:0002071	Abnormality of extrapyramidal motor function	2743	GLRB	OMIM:614619
HP:0002071	Abnormality of extrapyramidal motor function	5660	PSAP	OMIM:619491
HP:0002071	Abnormality of extrapyramidal motor function	3119	HLA-DQB1	OMIM:123400
HP:0002071	Abnormality of extrapyramidal motor function	9640	ZNF592	ORPHA:83472
HP:0002071	Abnormality of extrapyramidal motor function	84942	WDR73	ORPHA:83472
HP:0002071	Abnormality of extrapyramidal motor function	79152	FA2H	ORPHA:329308
HP:0002071	Abnormality of extrapyramidal motor function	38	ACAT1	ORPHA:134
HP:0002071	Abnormality of extrapyramidal motor function	80746	TSEN2	OMIM:612389
HP:0002071	Abnormality of extrapyramidal motor function	283989	TSEN54	OMIM:277470
HP:0002071	Abnormality of extrapyramidal motor function	1807	DPYS	OMIM:222748
HP:0002071	Abnormality of extrapyramidal motor function	6513	SLC2A1	ORPHA:71277
HP:0002071	Abnormality of extrapyramidal motor function	816	CAMK2B	OMIM:617799
HP:0002071	Abnormality of extrapyramidal motor function	6857	SYT1	OMIM:618218
HP:0002071	Abnormality of extrapyramidal motor function	6857	SYT1	ORPHA:522077
HP:0002071	Abnormality of extrapyramidal motor function	8241	RBM10	ORPHA:2886
HP:0007117	Corticospinal tract atrophy	4508	MT-ATP6	ORPHA:644
HP:0007117	Corticospinal tract atrophy	4508	MT-ATP6	OMIM:551500
HP:0000762	Decreased nerve conduction velocity	2074	ERCC6	OMIM:133540
HP:0000762	Decreased nerve conduction velocity	79784	MYH14	ORPHA:397744
HP:0000762	Decreased nerve conduction velocity	9131	AIFM1	ORPHA:101078
HP:0000762	Decreased nerve conduction velocity	410	ARSA	ORPHA:309256
HP:0000762	Decreased nerve conduction velocity	410	ARSA	ORPHA:309271
HP:0000762	Decreased nerve conduction velocity	410	ARSA	ORPHA:309263
HP:0000762	Decreased nerve conduction velocity	410	ARSA	OMIM:250100
HP:0000762	Decreased nerve conduction velocity	5660	PSAP	ORPHA:309256
HP:0000762	Decreased nerve conduction velocity	5660	PSAP	OMIM:249900
HP:0000762	Decreased nerve conduction velocity	5660	PSAP	ORPHA:309271
HP:0000762	Decreased nerve conduction velocity	5660	PSAP	ORPHA:206436
HP:0000762	Decreased nerve conduction velocity	5660	PSAP	ORPHA:309263
HP:0000762	Decreased nerve conduction velocity	1593	CYP27A1	ORPHA:909
HP:0000762	Decreased nerve conduction velocity	7415	VCP	ORPHA:435387
HP:0000762	Decreased nerve conduction velocity	7415	VCP	ORPHA:329478
HP:0000762	Decreased nerve conduction velocity	5190	PEX6	OMIM:614863
HP:0000762	Decreased nerve conduction velocity	9782	MATR3	OMIM:606070
HP:0000762	Decreased nerve conduction velocity	9782	MATR3	ORPHA:600
HP:0000762	Decreased nerve conduction velocity	4747	NEFL	ORPHA:99939
HP:0000762	Decreased nerve conduction velocity	4747	NEFL	ORPHA:101085
HP:0000762	Decreased nerve conduction velocity	7167	TPI1	ORPHA:868
HP:0000762	Decreased nerve conduction velocity	10516	FBLN5	OMIM:608895
HP:0000762	Decreased nerve conduction velocity	10743	RAI1	ORPHA:477817
HP:0000762	Decreased nerve conduction velocity	5354	PLP1	ORPHA:280234
HP:0000762	Decreased nerve conduction velocity	2581	GALC	ORPHA:206443
HP:0000762	Decreased nerve conduction velocity	2581	GALC	ORPHA:206436
HP:0000762	Decreased nerve conduction velocity	2581	GALC	OMIM:245200
HP:0000762	Decreased nerve conduction velocity	10397	NDRG1	OMIM:601455
HP:0000762	Decreased nerve conduction velocity	6305	SBF1	OMIM:615284
HP:0000762	Decreased nerve conduction velocity	23114	NFASC	OMIM:618356
HP:0000762	Decreased nerve conduction velocity	25814	ATXN10	OMIM:603516
HP:0000762	Decreased nerve conduction velocity	1785	DNM2	OMIM:615368
HP:0000762	Decreased nerve conduction velocity	56947	MFF	ORPHA:485421
HP:0000762	Decreased nerve conduction velocity	5165	PDK3	ORPHA:352675
HP:0000762	Decreased nerve conduction velocity	9896	FIG4	OMIM:612577
HP:0000762	Decreased nerve conduction velocity	9896	FIG4	OMIM:611228
HP:0000762	Decreased nerve conduction velocity	1130	LYST	OMIM:214500
HP:0000762	Decreased nerve conduction velocity	1130	LYST	ORPHA:167
HP:0000762	Decreased nerve conduction velocity	4758	NEU1	ORPHA:812
HP:0000762	Decreased nerve conduction velocity	3508	IGHMBP2	OMIM:604320
HP:0000762	Decreased nerve conduction velocity	540	ATP7B	OMIM:277900
HP:0000762	Decreased nerve conduction velocity	6663	SOX10	OMIM:609136
HP:0000762	Decreased nerve conduction velocity	1161	ERCC8	OMIM:216400
HP:0000762	Decreased nerve conduction velocity	9516	LITAF	OMIM:601098
HP:0000762	Decreased nerve conduction velocity	10166	SLC25A15	OMIM:238970
HP:0000762	Decreased nerve conduction velocity	87178	PNPT1	ORPHA:319514
HP:0000762	Decreased nerve conduction velocity	87178	PNPT1	OMIM:614932
HP:0000762	Decreased nerve conduction velocity	219285	SAMD9L	OMIM:159550
HP:0000762	Decreased nerve conduction velocity	84340	GFM2	ORPHA:565624
HP:0000762	Decreased nerve conduction velocity	8560	DEGS1	OMIM:618404
HP:0000762	Decreased nerve conduction velocity	3295	HSD17B4	OMIM:261515
HP:0000762	Decreased nerve conduction velocity	9639	ARHGEF10	OMIM:608236
HP:0000762	Decreased nerve conduction velocity	2200	FBN1	ORPHA:969
HP:0000762	Decreased nerve conduction velocity	4054	LTBP3	ORPHA:969
HP:0000762	Decreased nerve conduction velocity	54332	GDAP1	ORPHA:101097
HP:0000762	Decreased nerve conduction velocity	54332	GDAP1	ORPHA:99948
HP:0000762	Decreased nerve conduction velocity	54332	GDAP1	ORPHA:99944
HP:0000762	Decreased nerve conduction velocity	65125	WNK1	OMIM:201300
HP:0000762	Decreased nerve conduction velocity	54463	RETREG1	OMIM:201300
HP:0000762	Decreased nerve conduction velocity	6335	SCN9A	OMIM:201300
HP:0000762	Decreased nerve conduction velocity	547	KIF1A	OMIM:201300
HP:0000762	Decreased nerve conduction velocity	8398	PLA2G6	OMIM:256600
HP:0000762	Decreased nerve conduction velocity	26090	ABHD12	OMIM:612674
HP:0000762	Decreased nerve conduction velocity	2071	ERCC3	OMIM:610651
HP:0000762	Decreased nerve conduction velocity	3908	LAMA2	OMIM:618138
HP:0000762	Decreased nerve conduction velocity	5376	PMP22	ORPHA:90658
HP:0000762	Decreased nerve conduction velocity	8449	DHX16	OMIM:618733
HP:0000762	Decreased nerve conduction velocity	8803	SUCLA2	ORPHA:1933
HP:0000762	Decreased nerve conduction velocity	9990	SLC12A6	OMIM:218000
HP:0000762	Decreased nerve conduction velocity	4359	MPZ	ORPHA:101082
HP:0000762	Decreased nerve conduction velocity	4000	LMNA	OMIM:605588
HP:0000762	Decreased nerve conduction velocity	4000	LMNA	ORPHA:98856
HP:0000762	Decreased nerve conduction velocity	11284	PNKP	OMIM:605589
HP:0000762	Decreased nerve conduction velocity	81857	MED25	OMIM:605589
HP:0000762	Decreased nerve conduction velocity	7384	UQCRC1	OMIM:619279
HP:0000762	Decreased nerve conduction velocity	8506	CNTNAP1	OMIM:618186
HP:0000762	Decreased nerve conduction velocity	22948	CCT5	ORPHA:139578
HP:0000762	Decreased nerve conduction velocity	22948	CCT5	OMIM:256840
HP:0000762	Decreased nerve conduction velocity	22880	MORC2	OMIM:616688
HP:0000762	Decreased nerve conduction velocity	9927	MFN2	OMIM:609260
HP:0000762	Decreased nerve conduction velocity	9927	MFN2	OMIM:601152
HP:0000762	Decreased nerve conduction velocity	50717	DCAF8	OMIM:610100
HP:0000762	Decreased nerve conduction velocity	3315	HSPB1	OMIM:606595
HP:0000762	Decreased nerve conduction velocity	8898	MTMR2	OMIM:601382
HP:0000762	Decreased nerve conduction velocity	7879	RAB7A	OMIM:600882
HP:0000762	Decreased nerve conduction velocity	57165	GJC2	OMIM:608804
HP:0000762	Decreased nerve conduction velocity	1959	EGR2	OMIM:607678
HP:0000762	Decreased nerve conduction velocity	1959	EGR2	OMIM:605253
HP:0000762	Decreased nerve conduction velocity	1959	EGR2	OMIM:145900
HP:0000762	Decreased nerve conduction velocity	9150	CTDP1	OMIM:604168
HP:0000762	Decreased nerve conduction velocity	56704	JPH1	OMIM:607831
HP:0000762	Decreased nerve conduction velocity	23095	KIF1B	OMIM:118210
HP:0000762	Decreased nerve conduction velocity	6652	SORD	OMIM:618912
HP:0000762	Decreased nerve conduction velocity	65055	REEP1	OMIM:614751
HP:0000762	Decreased nerve conduction velocity	90678	LRSAM1	OMIM:614436
HP:0000762	Decreased nerve conduction velocity	3710	ITPR3	OMIM:620111
HP:0000762	Decreased nerve conduction velocity	81846	SBF2	OMIM:604563
HP:0000762	Decreased nerve conduction velocity	8565	YARS1	OMIM:608323
HP:0000762	Decreased nerve conduction velocity	26278	SACS	OMIM:270550
HP:0000762	Decreased nerve conduction velocity	100996717	NOTCH2NLC	OMIM:603472
HP:0000762	Decreased nerve conduction velocity	5428	POLG	ORPHA:298
HP:0000762	Decreased nerve conduction velocity	1890	TYMP	ORPHA:298
HP:0000762	Decreased nerve conduction velocity	3980	LIG3	ORPHA:298
HP:0000762	Decreased nerve conduction velocity	50484	RRM2B	ORPHA:298
HP:0000762	Decreased nerve conduction velocity	10558	SPTLC1	OMIM:162400
HP:0000762	Decreased nerve conduction velocity	10280	SIGMAR1	OMIM:605726
HP:0000762	Decreased nerve conduction velocity	23250	ATP11A	OMIM:619851
HP:0000762	Decreased nerve conduction velocity	23321	TRIM2	OMIM:615490
HP:0000762	Decreased nerve conduction velocity	57449	PLEKHG5	OMIM:615376
HP:0000762	Decreased nerve conduction velocity	81545	FBXO38	OMIM:615575
HP:0000762	Decreased nerve conduction velocity	5631	PRPS1	ORPHA:1187
HP:0000762	Decreased nerve conduction velocity	259232	NALCN	OMIM:615419
HP:0000762	Decreased nerve conduction velocity	26580	BSCL2	OMIM:270685
HP:0000762	Decreased nerve conduction velocity	3098	HK1	ORPHA:99953
HP:0000762	Decreased nerve conduction velocity	3098	HK1	OMIM:605285
HP:0000762	Decreased nerve conduction velocity	79628	SH3TC2	OMIM:601596
HP:0000762	Decreased nerve conduction velocity	79628	SH3TC2	ORPHA:99949
HP:0000762	Decreased nerve conduction velocity	5611	DNAJC3	OMIM:616192
HP:0000762	Decreased nerve conduction velocity	51651	PTRH2	ORPHA:456312
HP:0000762	Decreased nerve conduction velocity	84842	HPDL	OMIM:619026
HP:0000762	Decreased nerve conduction velocity	2705	GJB1	OMIM:302800
HP:0000762	Decreased nerve conduction velocity	9517	SPTLC2	OMIM:613640
HP:0000762	Decreased nerve conduction velocity	57716	PRX	OMIM:614895
HP:0000762	Decreased nerve conduction velocity	57716	PRX	OMIM:145900
HP:0000762	Decreased nerve conduction velocity	16	AARS1	OMIM:613287
HP:0000762	Decreased nerve conduction velocity	128637	TBC1D20	OMIM:615663
HP:0000762	Decreased nerve conduction velocity	55775	TDP1	OMIM:607250
HP:0000762	Decreased nerve conduction velocity	84668	HYCC1	OMIM:610532
HP:0000762	Decreased nerve conduction velocity	23064	SETX	OMIM:606002
HP:0000762	Decreased nerve conduction velocity	6342	SCP2	OMIM:613724
HP:0000762	Decreased nerve conduction velocity	2395	FXN	ORPHA:95
HP:0000762	Decreased nerve conduction velocity	6310	ATXN1	OMIM:164400
HP:0000762	Decreased nerve conduction velocity	121512	FGD4	OMIM:609311
HP:0000762	Decreased nerve conduction velocity	55768	NGLY1	OMIM:615273
HP:0000762	Decreased nerve conduction velocity	91574	MTRFR	ORPHA:320375
HP:0000762	Decreased nerve conduction velocity	10730	YME1L1	OMIM:617302
HP:0000762	Decreased nerve conduction velocity	28982	FLVCR1	OMIM:609033
HP:0001256	Intellectual disability, mild	10749	KIF1C	ORPHA:397946
HP:0001256	Intellectual disability, mild	85465	SELENOI	ORPHA:506353
HP:0001256	Intellectual disability, mild	85465	SELENOI	OMIM:618768
HP:0001256	Intellectual disability, mild	7528	YY1	ORPHA:506358
HP:0001256	Intellectual disability, mild	29899	GPSM2	OMIM:604213
HP:0001256	Intellectual disability, mild	11253	MAN1B1	ORPHA:397941
HP:0001256	Intellectual disability, mild	55703	POLR3B	OMIM:614381
HP:0001256	Intellectual disability, mild	51256	TBC1D7	OMIM:248000
HP:0001256	Intellectual disability, mild	3094	HINT1	ORPHA:324442
HP:0001256	Intellectual disability, mild	29925	GMPPB	OMIM:615352
HP:0001256	Intellectual disability, mild	29925	GMPPB	ORPHA:370959
HP:0001256	Intellectual disability, mild	1161	ERCC8	ORPHA:90324
HP:0001256	Intellectual disability, mild	2074	ERCC6	ORPHA:90324
HP:0001256	Intellectual disability, mild	10973	ASCC3	OMIM:620700
HP:0001256	Intellectual disability, mild	7021	TFAP2B	OMIM:169100
HP:0001256	Intellectual disability, mild	1788	DNMT3A	ORPHA:404443
HP:0001256	Intellectual disability, mild	5457	POU4F1	ORPHA:314647
HP:0001256	Intellectual disability, mild	23261	CAMTA1	ORPHA:314647
HP:0001256	Intellectual disability, mild	23261	CAMTA1	OMIM:614756
HP:0001256	Intellectual disability, mild	10084	PQBP1	ORPHA:93950
HP:0001256	Intellectual disability, mild	10084	PQBP1	ORPHA:93945
HP:0001256	Intellectual disability, mild	4125	MAN2B1	ORPHA:309282
HP:0001256	Intellectual disability, mild	4125	MAN2B1	ORPHA:309288
HP:0001256	Intellectual disability, mild	4522	MTHFD1	OMIM:617780
HP:0001256	Intellectual disability, mild	2737	GLI3	ORPHA:380
HP:0001256	Intellectual disability, mild	2737	GLI3	OMIM:175700
HP:0001256	Intellectual disability, mild	5917	RARS1	ORPHA:438114
HP:0001256	Intellectual disability, mild	5917	RARS1	OMIM:616140
HP:0001256	Intellectual disability, mild	8309	ACOX2	OMIM:617308
HP:0001256	Intellectual disability, mild	9968	MED12	ORPHA:2728
HP:0001256	Intellectual disability, mild	2132	EXT2	ORPHA:466926
HP:0001256	Intellectual disability, mild	57156	TMEM63C	OMIM:619966
HP:0001256	Intellectual disability, mild	1476	CSTB	OMIM:254800
HP:0001256	Intellectual disability, mild	3764	KCNJ8	ORPHA:1517
HP:0001256	Intellectual disability, mild	10060	ABCC9	ORPHA:1517
HP:0001256	Intellectual disability, mild	10060	ABCC9	OMIM:239850
HP:0001256	Intellectual disability, mild	7086	TKT	ORPHA:488618
HP:0001256	Intellectual disability, mild	488	ATP2A2	OMIM:124200
HP:0001256	Intellectual disability, mild	90	ACVR1	OMIM:135100
HP:0001256	Intellectual disability, mild	84572	GNPTG	OMIM:252605
HP:0001256	Intellectual disability, mild	54	ACP5	OMIM:607944
HP:0001256	Intellectual disability, mild	80153	EDC3	OMIM:616460
HP:0001256	Intellectual disability, mild	284058	KANSL1	ORPHA:363958
HP:0001256	Intellectual disability, mild	284058	KANSL1	ORPHA:363965
HP:0001256	Intellectual disability, mild	55154	MSTO1	OMIM:617675
HP:0001256	Intellectual disability, mild	55154	MSTO1	ORPHA:502423
HP:0001256	Intellectual disability, mild	6884	TAF13	OMIM:617432
HP:0001256	Intellectual disability, mild	10939	AFG3L2	ORPHA:313772
HP:0001256	Intellectual disability, mild	2626	GATA4	ORPHA:251071
HP:0001256	Intellectual disability, mild	7020	TFAP2A	OMIM:113620
HP:0001256	Intellectual disability, mild	1605	DAG1	ORPHA:280333
HP:0001256	Intellectual disability, mild	833	CARS1	OMIM:618891
HP:0001256	Intellectual disability, mild	80208	SPG11	ORPHA:2822
HP:0001256	Intellectual disability, mild	200734	SPRED2	OMIM:619745
HP:0001256	Intellectual disability, mild	79731	NARS2	OMIM:616239
HP:0001256	Intellectual disability, mild	2316	FLNA	ORPHA:90650
HP:0001256	Intellectual disability, mild	2316	FLNA	OMIM:311300
HP:0001256	Intellectual disability, mild	2316	FLNA	OMIM:300049
HP:0001256	Intellectual disability, mild	5192	PEX10	ORPHA:247815
HP:0001256	Intellectual disability, mild	81794	ADAMTS10	OMIM:277600
HP:0001256	Intellectual disability, mild	81794	ADAMTS10	ORPHA:3449
HP:0001256	Intellectual disability, mild	63895	PIEZO2	OMIM:114300
HP:0001256	Intellectual disability, mild	57680	CHD8	OMIM:615032
HP:0001256	Intellectual disability, mild	55280	CWF19L1	OMIM:616127
HP:0001256	Intellectual disability, mild	79633	FAT4	OMIM:616006
HP:0001256	Intellectual disability, mild	54902	TTC19	OMIM:615157
HP:0001256	Intellectual disability, mild	1660	DHX9	OMIM:620988
HP:0001256	Intellectual disability, mild	5354	PLP1	ORPHA:280219
HP:0001256	Intellectual disability, mild	5354	PLP1	OMIM:312920
HP:0001256	Intellectual disability, mild	56052	ALG1	ORPHA:79327
HP:0001256	Intellectual disability, mild	10908	PNPLA6	OMIM:215470
HP:0001256	Intellectual disability, mild	10021	HCN4	OMIM:619521
HP:0001256	Intellectual disability, mild	1615	DARS1	OMIM:615281
HP:0001256	Intellectual disability, mild	7750	ZMYM2	OMIM:619522
HP:0001256	Intellectual disability, mild	8733	GPAA1	ORPHA:529665
HP:0001256	Intellectual disability, mild	27086	FOXP1	ORPHA:391372
HP:0001256	Intellectual disability, mild	6942	TCF20	OMIM:618430
HP:0001256	Intellectual disability, mild	2720	GLB1	OMIM:230650
HP:0001256	Intellectual disability, mild	9158	FIBP	OMIM:617107
HP:0001256	Intellectual disability, mild	641	BLM	OMIM:210900
HP:0001256	Intellectual disability, mild	2263	FGFR2	ORPHA:168624
HP:0001256	Intellectual disability, mild	10531	PITRM1	OMIM:619405
HP:0001256	Intellectual disability, mild	57492	ARID1B	ORPHA:251056
HP:0001256	Intellectual disability, mild	10743	RAI1	ORPHA:1713
HP:0001256	Intellectual disability, mild	57104	PNPLA2	OMIM:610717
HP:0001256	Intellectual disability, mild	57104	PNPLA2	ORPHA:98908
HP:0001256	Intellectual disability, mild	38	ACAT1	ORPHA:134
HP:0001256	Intellectual disability, mild	51062	ATL1	OMIM:182600
HP:0001256	Intellectual disability, mild	51322	WAC	ORPHA:466950
HP:0001256	Intellectual disability, mild	2072	ERCC4	OMIM:610965
HP:0001256	Intellectual disability, mild	29110	TBK1	OMIM:620880
HP:0001256	Intellectual disability, mild	178	AGL	ORPHA:366
HP:0001256	Intellectual disability, mild	2742	GLRA2	OMIM:301076
HP:0001256	Intellectual disability, mild	25970	SH2B1	ORPHA:261197
HP:0001256	Intellectual disability, mild	9742	IFT140	OMIM:266920
HP:0001256	Intellectual disability, mild	5111	PCNA	ORPHA:438134
HP:0001256	Intellectual disability, mild	60529	ALX4	ORPHA:228390
HP:0001256	Intellectual disability, mild	2583	B4GALNT1	OMIM:609195
HP:0001256	Intellectual disability, mild	5908	RAP1B	OMIM:620654
HP:0001256	Intellectual disability, mild	3242	HPD	OMIM:276710
HP:0001256	Intellectual disability, mild	3242	HPD	OMIM:140350
HP:0001256	Intellectual disability, mild	8905	AP1S2	OMIM:304340
HP:0001256	Intellectual disability, mild	2902	GRIN1	ORPHA:208447
HP:0001256	Intellectual disability, mild	54808	DYM	ORPHA:239
HP:0001256	Intellectual disability, mild	3479	IGF1	ORPHA:73272
HP:0001256	Intellectual disability, mild	57526	PCDH19	ORPHA:101039
HP:0001256	Intellectual disability, mild	23111	SPART	OMIM:275900
HP:0001256	Intellectual disability, mild	3155	HMGCL	ORPHA:20
HP:0001256	Intellectual disability, mild	388015	RTL1	ORPHA:254534
HP:0001256	Intellectual disability, mild	8788	DLK1	ORPHA:254534
HP:0001256	Intellectual disability, mild	55384	MEG3	ORPHA:254534
HP:0001256	Intellectual disability, mild	10466	COG5	ORPHA:263487
HP:0001256	Intellectual disability, mild	1859	DYRK1A	ORPHA:268261
HP:0001256	Intellectual disability, mild	54973	INTS11	OMIM:620428
HP:0001256	Intellectual disability, mild	6885	MAP3K7	OMIM:617137
HP:0001256	Intellectual disability, mild	1756	DMD	OMIM:310200
HP:0001256	Intellectual disability, mild	79903	NAA60	OMIM:620786
HP:0001256	Intellectual disability, mild	9256	TSPOAP1	ORPHA:101150
HP:0001256	Intellectual disability, mild	7054	TH	ORPHA:101150
HP:0001256	Intellectual disability, mild	170302	ARX	ORPHA:94083
HP:0001256	Intellectual disability, mild	4568	MT-TL2	ORPHA:663
HP:0001256	Intellectual disability, mild	4567	MT-TL1	ORPHA:663
HP:0001256	Intellectual disability, mild	4570	MT-TN	ORPHA:663
HP:0001256	Intellectual disability, mild	4574	MT-TS1	ORPHA:663
HP:0001256	Intellectual disability, mild	6792	CDKL5	ORPHA:3095
HP:0001256	Intellectual disability, mild	22854	NTNG1	ORPHA:3095
HP:0001256	Intellectual disability, mild	9568	GABBR2	ORPHA:3095
HP:0001256	Intellectual disability, mild	4204	MECP2	ORPHA:3095
HP:0001256	Intellectual disability, mild	4204	MECP2	OMIM:300055
HP:0001256	Intellectual disability, mild	8243	SMC1A	ORPHA:3095
HP:0001256	Intellectual disability, mild	2972	BRF1	ORPHA:444072
HP:0001256	Intellectual disability, mild	23102	TBC1D2B	OMIM:619323
HP:0001256	Intellectual disability, mild	23102	TBC1D2B	ORPHA:397973
HP:0001256	Intellectual disability, mild	56521	DNAJC12	OMIM:617384
HP:0001256	Intellectual disability, mild	27286	SRPX2	OMIM:300643
HP:0001256	Intellectual disability, mild	100151683	RNU4ATAC	OMIM:226960
HP:0001256	Intellectual disability, mild	100151683	RNU4ATAC	OMIM:616651
HP:0001256	Intellectual disability, mild	3714	JAG2	OMIM:619566
HP:0001256	Intellectual disability, mild	6729	SRP54	OMIM:260400
HP:0001256	Intellectual disability, mild	51119	SBDS	OMIM:260400
HP:0001256	Intellectual disability, mild	134218	DNAJC21	OMIM:260400
HP:0001256	Intellectual disability, mild	23524	SRRM2	OMIM:620439
HP:0001256	Intellectual disability, mild	8890	EIF2B4	OMIM:620314
HP:0001256	Intellectual disability, mild	4041	LRP5	OMIM:259770
HP:0001256	Intellectual disability, mild	4041	LRP5	ORPHA:891
HP:0001256	Intellectual disability, mild	8888	MCM3AP	OMIM:618124
HP:0001256	Intellectual disability, mild	51473	DCDC2	OMIM:617394
HP:0001256	Intellectual disability, mild	537	ATP6AP1	OMIM:300972
HP:0001256	Intellectual disability, mild	4998	ORC1	OMIM:224690
HP:0001256	Intellectual disability, mild	54496	PRMT7	OMIM:617157
HP:0001256	Intellectual disability, mild	54496	PRMT7	ORPHA:464288
HP:0001256	Intellectual disability, mild	2664	GDI1	OMIM:300849
HP:0001256	Intellectual disability, mild	54551	MAGEL2	ORPHA:398069
HP:0001256	Intellectual disability, mild	54551	MAGEL2	ORPHA:98754
HP:0001256	Intellectual disability, mild	54551	MAGEL2	ORPHA:177904
HP:0001256	Intellectual disability, mild	54551	MAGEL2	ORPHA:177901
HP:0001256	Intellectual disability, mild	201163	FLCN	OMIM:610883
HP:0001256	Intellectual disability, mild	3183	HNRNPC	OMIM:620688
HP:0001256	Intellectual disability, mild	116442	RAB39B	OMIM:311510
HP:0001256	Intellectual disability, mild	10157	AASS	OMIM:238700
HP:0001256	Intellectual disability, mild	10157	AASS	ORPHA:3124
HP:0001256	Intellectual disability, mild	1312	COMT	ORPHA:567
HP:0001256	Intellectual disability, mild	221037	JMJD1C	ORPHA:567
HP:0001256	Intellectual disability, mild	2812	GP1BB	ORPHA:567
HP:0001256	Intellectual disability, mild	6239	RREB1	ORPHA:567
HP:0001256	Intellectual disability, mild	6899	TBX1	ORPHA:567
HP:0001256	Intellectual disability, mild	7290	HIRA	ORPHA:567
HP:0001256	Intellectual disability, mild	9632	SEC24C	ORPHA:567
HP:0001256	Intellectual disability, mild	7353	UFD1	ORPHA:567
HP:0001256	Intellectual disability, mild	421	ARVCF	ORPHA:567
HP:0001256	Intellectual disability, mild	1009	CDH11	OMIM:211380
HP:0001256	Intellectual disability, mild	1137	CHRNA4	ORPHA:98784
HP:0001256	Intellectual disability, mild	1135	CHRNA2	ORPHA:98784
HP:0001256	Intellectual disability, mild	57010	CABP4	ORPHA:98784
HP:0001256	Intellectual disability, mild	1141	CHRNB2	ORPHA:98784
HP:0001256	Intellectual disability, mild	57582	KCNT1	ORPHA:98784
HP:0001256	Intellectual disability, mild	1392	CRH	ORPHA:98784
HP:0001256	Intellectual disability, mild	9681	DEPDC5	ORPHA:98784
HP:0001256	Intellectual disability, mild	8091	HMGA2	ORPHA:94063
HP:0001256	Intellectual disability, mild	23592	LEMD3	ORPHA:94063
HP:0001256	Intellectual disability, mild	10013	HDAC6	OMIM:300863
HP:0001256	Intellectual disability, mild	10013	HDAC6	ORPHA:163966
HP:0001256	Intellectual disability, mild	9757	KMT2B	OMIM:617284
HP:0001256	Intellectual disability, mild	4613	MYCN	OMIM:164280
HP:0001256	Intellectual disability, mild	57187	THOC2	ORPHA:457240
HP:0001256	Intellectual disability, mild	9401	RECQL4	OMIM:266280
HP:0001256	Intellectual disability, mild	1974	EIF4A2	OMIM:620455
HP:0001256	Intellectual disability, mild	55186	SLC25A36	OMIM:620211
HP:0001256	Intellectual disability, mild	6874	TAF4	OMIM:620450
HP:0001256	Intellectual disability, mild	3251	HPRT1	ORPHA:510
HP:0001256	Intellectual disability, mild	10771	ZMYND11	OMIM:616083
HP:0001256	Intellectual disability, mild	6611	SMS	ORPHA:3063
HP:0001256	Intellectual disability, mild	1021	CDK6	OMIM:616080
HP:0001256	Intellectual disability, mild	55213	RCBTB1	OMIM:617175
HP:0001256	Intellectual disability, mild	29957	SLC25A24	ORPHA:2095
HP:0001256	Intellectual disability, mild	2892	GRIA3	ORPHA:364028
HP:0001256	Intellectual disability, mild	8452	CUL3	OMIM:619239
HP:0001256	Intellectual disability, mild	527	ATP6V0C	OMIM:620465
HP:0001256	Intellectual disability, mild	92935	MARS2	ORPHA:314603
HP:0001256	Intellectual disability, mild	246329	STAC3	ORPHA:168572
HP:0001256	Intellectual disability, mild	5781	PTPN11	ORPHA:500
HP:0001256	Intellectual disability, mild	5781	PTPN11	OMIM:151100
HP:0001256	Intellectual disability, mild	673	BRAF	ORPHA:500
HP:0001256	Intellectual disability, mild	5894	RAF1	ORPHA:500
HP:0001256	Intellectual disability, mild	79147	FKRP	ORPHA:370959
HP:0001256	Intellectual disability, mild	29954	POMT2	ORPHA:370959
HP:0001256	Intellectual disability, mild	84197	POMK	ORPHA:370959
HP:0001256	Intellectual disability, mild	55624	POMGNT1	ORPHA:370959
HP:0001256	Intellectual disability, mild	10585	POMT1	ORPHA:370959
HP:0001256	Intellectual disability, mild	23067	SETD1B	OMIM:619000
HP:0001256	Intellectual disability, mild	6197	RPS6KA3	OMIM:300844
HP:0001256	Intellectual disability, mild	288	ANK3	ORPHA:356996
HP:0001256	Intellectual disability, mild	55717	WDR11	OMIM:620237
HP:0001256	Intellectual disability, mild	84905	ZNF341	OMIM:618282
HP:0001256	Intellectual disability, mild	4693	NDP	ORPHA:891
HP:0001256	Intellectual disability, mild	1499	CTNNB1	ORPHA:891
HP:0001256	Intellectual disability, mild	23554	TSPAN12	ORPHA:891
HP:0001256	Intellectual disability, mild	79797	ZNF408	ORPHA:891
HP:0001256	Intellectual disability, mild	8322	FZD4	ORPHA:891
HP:0001256	Intellectual disability, mild	4508	MT-ATP6	ORPHA:225154
HP:0001256	Intellectual disability, mild	23636	NUP62	ORPHA:225154
HP:0001256	Intellectual disability, mild	53371	NUP54	ORPHA:225154
HP:0001256	Intellectual disability, mild	103	ADAR	ORPHA:225154
HP:0001256	Intellectual disability, mild	4256	MGP	OMIM:245150
HP:0001256	Intellectual disability, mild	4256	MGP	ORPHA:85202
HP:0001256	Intellectual disability, mild	2332	FMR1	ORPHA:261483
HP:0001256	Intellectual disability, mild	6571	SLC18A2	OMIM:618049
HP:0001256	Intellectual disability, mild	89970	RSPRY1	ORPHA:457395
HP:0001256	Intellectual disability, mild	23133	PHF8	ORPHA:85287
HP:0001256	Intellectual disability, mild	23133	PHF8	OMIM:300263
HP:0001256	Intellectual disability, mild	92344	GORAB	ORPHA:2078
HP:0001256	Intellectual disability, mild	5831	PYCR1	ORPHA:2078
HP:0001256	Intellectual disability, mild	8799	PEX11B	OMIM:614920
HP:0001256	Intellectual disability, mild	10020	GNE	ORPHA:3166
HP:0001256	Intellectual disability, mild	10020	GNE	OMIM:269921
HP:0001256	Intellectual disability, mild	10079	ATP9A	OMIM:620242
HP:0001256	Intellectual disability, mild	4668	NAGA	OMIM:609242
HP:0001256	Intellectual disability, mild	4668	NAGA	ORPHA:79280
HP:0001256	Intellectual disability, mild	23040	MYT1L	ORPHA:647799
HP:0001256	Intellectual disability, mild	5611	DNAJC3	ORPHA:445062
HP:0001256	Intellectual disability, mild	9423	NTN1	OMIM:157600
HP:0001256	Intellectual disability, mild	9423	NTN1	ORPHA:238722
HP:0001256	Intellectual disability, mild	5888	RAD51	OMIM:157600
HP:0001256	Intellectual disability, mild	5888	RAD51	ORPHA:238722
HP:0001256	Intellectual disability, mild	1630	DCC	OMIM:157600
HP:0001256	Intellectual disability, mild	1630	DCC	ORPHA:238722
HP:0001256	Intellectual disability, mild	91574	MTRFR	ORPHA:320375
HP:0001256	Intellectual disability, mild	375056	MIA3	OMIM:619269
HP:0001256	Intellectual disability, mild	284361	EMC10	OMIM:619264
HP:0001256	Intellectual disability, mild	9652	SKIC3	ORPHA:84064
HP:0001256	Intellectual disability, mild	6499	SKIC2	ORPHA:84064
HP:0001256	Intellectual disability, mild	55315	SLC29A3	ORPHA:168569
HP:0001256	Intellectual disability, mild	2138	EYA1	OMIM:166780
HP:0001256	Intellectual disability, mild	267	AMFR	OMIM:620379
HP:0001256	Intellectual disability, mild	3708	ITPR1	OMIM:206700
HP:0001256	Intellectual disability, mild	3708	ITPR1	OMIM:117360
HP:0001256	Intellectual disability, mild	5696	PSMB8	OMIM:256040
HP:0001256	Intellectual disability, mild	3516	RBPJ	OMIM:614814
HP:0001256	Intellectual disability, mild	8085	KMT2D	OMIM:147920
HP:0001256	Intellectual disability, mild	7403	KDM6A	OMIM:147920
HP:0001256	Intellectual disability, mild	23443	SLC35A3	ORPHA:370943
HP:0001256	Intellectual disability, mild	324	APC	ORPHA:261584
HP:0001256	Intellectual disability, mild	6853	SYN1	OMIM:300115
HP:0001256	Intellectual disability, mild	1183	CLCN4	OMIM:300114
HP:0001256	Intellectual disability, mild	84282	RNF135	ORPHA:137634
HP:0001256	Intellectual disability, mild	10806	SDCCAG8	OMIM:613615
HP:0001256	Intellectual disability, mild	23126	POGZ	ORPHA:468678
HP:0001256	Intellectual disability, mild	64324	NSD1	ORPHA:821
HP:0001256	Intellectual disability, mild	10297	APC2	ORPHA:821
HP:0001256	Intellectual disability, mild	10093	ARPC4	OMIM:620141
HP:0001256	Intellectual disability, mild	6658	SOX3	OMIM:300123
HP:0001256	Intellectual disability, mild	4281	MID1	OMIM:300000
HP:0001256	Intellectual disability, mild	56623	INPP5E	ORPHA:75858
HP:0001256	Intellectual disability, mild	10847	SRCAP	ORPHA:2044
HP:0001256	Intellectual disability, mild	55780	ERMARD	ORPHA:75857
HP:0001256	Intellectual disability, mild	6866	TAC3	OMIM:614839
HP:0001256	Intellectual disability, mild	25778	DSTYK	OMIM:270750
HP:0001256	Intellectual disability, mild	9382	COG1	ORPHA:263508
HP:0001256	Intellectual disability, mild	64601	VPS16	OMIM:619291
HP:0001256	Intellectual disability, mild	274	BIN1	OMIM:255200
HP:0001256	Intellectual disability, mild	274	BIN1	ORPHA:169186
HP:0001256	Intellectual disability, mild	50814	NSDHL	OMIM:308050
HP:0001256	Intellectual disability, mild	1757	SARDH	ORPHA:3129
HP:0001256	Intellectual disability, mild	5631	PRPS1	ORPHA:1187
HP:0001256	Intellectual disability, mild	7080	NKX2-1	ORPHA:209905
HP:0001256	Intellectual disability, mild	8546	AP3B1	OMIM:608233
HP:0001256	Intellectual disability, mild	1678	TIMM8A	OMIM:304700
HP:0001256	Intellectual disability, mild	4591	TRIM37	OMIM:253250
HP:0001256	Intellectual disability, mild	60	ACTB	OMIM:607371
HP:0001256	Intellectual disability, mild	124512	METTL23	OMIM:615942
HP:0001256	Intellectual disability, mild	5728	PTEN	ORPHA:79076
HP:0001256	Intellectual disability, mild	5728	PTEN	OMIM:158350
HP:0001256	Intellectual disability, mild	657	BMPR1A	ORPHA:79076
HP:0001256	Intellectual disability, mild	25942	SIN3A	OMIM:613406
HP:0001256	Intellectual disability, mild	25942	SIN3A	ORPHA:500166
HP:0001256	Intellectual disability, mild	6513	SLC2A1	ORPHA:98811
HP:0001256	Intellectual disability, mild	112476	PRRT2	ORPHA:98811
HP:0001256	Intellectual disability, mild	9907	AP5Z1	OMIM:613647
HP:0001256	Intellectual disability, mild	9711	RUBCN	OMIM:615705
HP:0001256	Intellectual disability, mild	65109	UPF3B	OMIM:300676
HP:0001256	Intellectual disability, mild	4803	NGF	ORPHA:64752
HP:0001256	Intellectual disability, mild	4803	NGF	OMIM:608654
HP:0001256	Intellectual disability, mild	4914	NTRK1	ORPHA:64752
HP:0001256	Intellectual disability, mild	3748	KCNC3	ORPHA:98768
HP:0001256	Intellectual disability, mild	4784	NFIX	ORPHA:420179
HP:0001256	Intellectual disability, mild	9719	ADAMTSL2	OMIM:231050
HP:0001256	Intellectual disability, mild	2259	FGF14	ORPHA:98764
HP:0001256	Intellectual disability, mild	11128	POLR3A	ORPHA:447896
HP:0001256	Intellectual disability, mild	55027	HEATR3	OMIM:620072
HP:0001256	Intellectual disability, mild	1737	DLAT	OMIM:245348
HP:0001256	Intellectual disability, mild	2200	FBN1	OMIM:608328
HP:0001256	Intellectual disability, mild	2200	FBN1	ORPHA:3449
HP:0001256	Intellectual disability, mild	182	JAG1	OMIM:118450
HP:0001256	Intellectual disability, mild	5422	POLA1	ORPHA:163976
HP:0001256	Intellectual disability, mild	7443	VRK1	OMIM:607596
HP:0001256	Intellectual disability, mild	55906	ZC4H2	ORPHA:3454
HP:0001256	Intellectual disability, mild	55906	ZC4H2	OMIM:314580
HP:0001256	Intellectual disability, mild	6638	SNRPN	ORPHA:98754
HP:0001256	Intellectual disability, mild	6638	SNRPN	ORPHA:177904
HP:0001256	Intellectual disability, mild	6638	SNRPN	ORPHA:177901
HP:0001256	Intellectual disability, mild	6638	SNRPN	ORPHA:177907
HP:0001256	Intellectual disability, mild	4692	NDN	ORPHA:98754
HP:0001256	Intellectual disability, mild	4692	NDN	ORPHA:177904
HP:0001256	Intellectual disability, mild	4692	NDN	ORPHA:177901
HP:0001256	Intellectual disability, mild	4948	OCA2	ORPHA:98754
HP:0001256	Intellectual disability, mild	4948	OCA2	ORPHA:177904
HP:0001256	Intellectual disability, mild	4948	OCA2	ORPHA:177901
HP:0001256	Intellectual disability, mild	3481	IGF2	ORPHA:2128
HP:0001256	Intellectual disability, mild	10984	KCNQ1OT1	ORPHA:2128
HP:0001256	Intellectual disability, mild	283120	H19	ORPHA:2128
HP:0001256	Intellectual disability, mild	55129	ANO10	ORPHA:284289
HP:0001256	Intellectual disability, mild	5295	PIK3R1	OMIM:269880
HP:0001256	Intellectual disability, mild	254065	BRWD3	OMIM:300659
HP:0001256	Intellectual disability, mild	170691	ADAMTS17	ORPHA:3449
HP:0001256	Intellectual disability, mild	4053	LTBP2	ORPHA:3449
HP:0001256	Intellectual disability, mild	2146	EZH2	OMIM:277590
HP:0001256	Intellectual disability, mild	55835	CPAP	OMIM:613676
HP:0001256	Intellectual disability, mild	10815	CPLX1	ORPHA:352582
HP:0001256	Intellectual disability, mild	57465	TBC1D24	ORPHA:352582
HP:0001256	Intellectual disability, mild	5048	PAFAH1B1	ORPHA:95232
HP:0001256	Intellectual disability, mild	92154	MTSS2	OMIM:620086
HP:0001256	Intellectual disability, mild	6567	SLC16A2	ORPHA:59
HP:0001256	Intellectual disability, mild	2033	EP300	OMIM:613684
HP:0001256	Intellectual disability, mild	23590	PDSS1	OMIM:614651
HP:0001256	Intellectual disability, mild	129880	BBS5	OMIM:615983
HP:0001256	Intellectual disability, mild	6307	MSMO1	OMIM:616834
HP:0001256	Intellectual disability, mild	79738	BBS10	OMIM:615987
HP:0001256	Intellectual disability, mild	6664	SOX11	OMIM:615866
HP:0001256	Intellectual disability, mild	57410	SCYL1	OMIM:616719
HP:0001256	Intellectual disability, mild	57410	SCYL1	ORPHA:466794
HP:0001256	Intellectual disability, mild	84705	GTPBP3	ORPHA:444013
HP:0001256	Intellectual disability, mild	10290	SPEG	ORPHA:169186
HP:0001256	Intellectual disability, mild	6261	RYR1	ORPHA:169186
HP:0001256	Intellectual disability, mild	7273	TTN	ORPHA:169186
HP:0001256	Intellectual disability, mild	10126	DNAL4	ORPHA:238722
HP:0001256	Intellectual disability, mild	2245	FGD1	OMIM:305400
HP:0001256	Intellectual disability, mild	51621	KLF13	OMIM:612001
HP:0001256	Intellectual disability, mild	1139	CHRNA7	OMIM:612001
HP:0001256	Intellectual disability, mild	5648	MASP1	OMIM:257920
HP:0001256	Intellectual disability, mild	57704	GBA2	ORPHA:352641
HP:0001256	Intellectual disability, mild	6334	SCN8A	OMIM:614306
HP:0001256	Intellectual disability, mild	6712	SPTBN2	ORPHA:352403
HP:0001256	Intellectual disability, mild	55187	VPS13D	OMIM:607317
HP:0001256	Intellectual disability, mild	84816	RTN4IP1	OMIM:616732
HP:0001256	Intellectual disability, mild	131118	DNAJC19	OMIM:610198
HP:0001256	Intellectual disability, mild	169792	GLIS3	OMIM:610199
HP:0001256	Intellectual disability, mild	3897	L1CAM	ORPHA:306617
HP:0001256	Intellectual disability, mild	767	CA8	OMIM:613227
HP:0001256	Intellectual disability, mild	2122	MECOM	OMIM:616738
HP:0001256	Intellectual disability, mild	2592	GALT	ORPHA:79239
HP:0001256	Intellectual disability, mild	4763	NF1	OMIM:162200
HP:0001256	Intellectual disability, mild	4358	MPV17	OMIM:256810
HP:0001256	Intellectual disability, mild	27315	PGAP2	OMIM:614207
HP:0001256	Intellectual disability, mild	54974	THG1L	OMIM:618800
HP:0001256	Intellectual disability, mild	291	SLC25A4	OMIM:615418
HP:0001256	Intellectual disability, mild	20	ABCA2	OMIM:618808
HP:0001256	Intellectual disability, mild	23400	ATP13A2	OMIM:606693
HP:0001256	Intellectual disability, mild	51185	CRBN	OMIM:607417
HP:0001256	Intellectual disability, mild	57599	WDR48	ORPHA:401800
HP:0001256	Intellectual disability, mild	5718	PSMD12	ORPHA:529962
HP:0001256	Intellectual disability, mild	2186	BPTF	ORPHA:529962
HP:0001256	Intellectual disability, mild	29980	DONSON	OMIM:617604
HP:0001256	Intellectual disability, mild	158326	FREM1	OMIM:608980
HP:0001256	Intellectual disability, mild	9997	SCO2	OMIM:604377
HP:0001256	Intellectual disability, mild	9150	CTDP1	ORPHA:48431
HP:0001256	Intellectual disability, mild	26580	BSCL2	OMIM:269700
HP:0001256	Intellectual disability, mild	4929	NR4A2	OMIM:619911
HP:0001256	Intellectual disability, mild	26576	SRPK3	OMIM:301134
HP:0001256	Intellectual disability, mild	220296	HEPACAM	OMIM:604004
HP:0001256	Intellectual disability, mild	23209	MLC1	OMIM:604004
HP:0001256	Intellectual disability, mild	54880	BCOR	OMIM:300166
HP:0001256	Intellectual disability, mild	80055	PGAP1	ORPHA:401820
HP:0001256	Intellectual disability, mild	7204	TRIO	ORPHA:476126
HP:0001256	Intellectual disability, mild	9702	CEP57	OMIM:614114
HP:0001256	Intellectual disability, mild	4780	NFE2L2	OMIM:617744
HP:0001256	Intellectual disability, mild	3295	HSD17B4	OMIM:233400
HP:0001256	Intellectual disability, mild	113246	C12orf57	OMIM:218340
HP:0001256	Intellectual disability, mild	5456	POU3F4	ORPHA:1435
HP:0001256	Intellectual disability, mild	139285	AMER1	OMIM:300373
HP:0001256	Intellectual disability, mild	25782	RAB3GAP2	ORPHA:401830
HP:0001256	Intellectual disability, mild	4841	NONO	ORPHA:466791
HP:0001256	Intellectual disability, mild	57502	NLGN4X	OMIM:300495
HP:0001256	Intellectual disability, mild	210	ALAD	ORPHA:100924
HP:0001256	Intellectual disability, mild	2898	GRIK2	OMIM:611092
HP:0001256	Intellectual disability, mild	4141	MARS1	ORPHA:401835
HP:0001256	Intellectual disability, mild	119559	SFXN4	OMIM:615578
HP:0001256	Intellectual disability, mild	6469	SHH	OMIM:147250
HP:0001256	Intellectual disability, mild	51684	SUFU	OMIM:617757
HP:0001256	Intellectual disability, mild	51663	ZFR	ORPHA:401840
HP:0001256	Intellectual disability, mild	23309	SIN3B	ORPHA:500166
HP:0001256	Intellectual disability, mild	23404	EXOSC2	OMIM:617763
HP:0001256	Intellectual disability, mild	3832	KIF11	OMIM:152950
HP:0001256	Intellectual disability, mild	1806	DPYD	ORPHA:293948
HP:0001256	Intellectual disability, mild	1478	CSTF2	OMIM:301116
HP:0001256	Intellectual disability, mild	7543	ZFX	OMIM:301118
HP:0001256	Intellectual disability, mild	6736	SRY	ORPHA:1772
HP:0001256	Intellectual disability, mild	5290	PIK3CA	OMIM:615108
HP:0001256	Intellectual disability, mild	207	AKT1	OMIM:615109
HP:0001256	Intellectual disability, mild	7337	UBE3A	ORPHA:411511
HP:0001256	Intellectual disability, mild	58499	ZNF462	OMIM:618619
HP:0001256	Intellectual disability, mild	9990	SLC12A6	OMIM:218000
HP:0033250	Nailfold capillary tortuosity	284	ANGPT1	OMIM:619361
HP:0033250	Nailfold capillary tortuosity	340061	STING1	OMIM:615934
HP:0033250	Nailfold capillary tortuosity	26509	MYOF	OMIM:619366
HP:0033252	Palmar hyperlinearity	59344	ALOXE3	OMIM:242100
HP:0033252	Palmar hyperlinearity	59344	ALOXE3	OMIM:606545
HP:0033252	Palmar hyperlinearity	242	ALOX12B	OMIM:242100
HP:0033252	Palmar hyperlinearity	126410	CYP4F22	OMIM:604777
HP:0033252	Palmar hyperlinearity	126695	KDF1	OMIM:617337
HP:0033252	Palmar hyperlinearity	412	STS	OMIM:308100
HP:0033252	Palmar hyperlinearity	204219	CERS3	OMIM:615023
HP:0033252	Palmar hyperlinearity	2312	FLG	OMIM:146700
HP:0033253	Reduced circulating interferon gamma concentration	5422	POLA1	OMIM:301220
HP:0033255	Congenital lobar overinflation	4212	MEIS2	OMIM:600987
HP:0033256	Pancolitis	3588	IL10RB	OMIM:612567
HP:0033256	Pancolitis	64858	DCLRE1B	OMIM:620133
HP:0033256	Pancolitis	7040	TGFB1	OMIM:618213
HP:0033256	Pancolitis	22900	CARD8	OMIM:619079
HP:0033257	Delayed ability to walk with support	3708	ITPR1	OMIM:117360
HP:0012420	Meconium stained amniotic fluid	23394	ADNP	OMIM:615873
HP:0012420	Meconium stained amniotic fluid	9152	SLC6A5	OMIM:614618
HP:0012420	Meconium stained amniotic fluid	501	ALDH7A1	ORPHA:3006
HP:0012420	Meconium stained amniotic fluid	11212	PLPBP	ORPHA:3006
HP:0012420	Meconium stained amniotic fluid	5205	ATP8B1	ORPHA:69665
HP:0012420	Meconium stained amniotic fluid	8647	ABCB11	ORPHA:69665
HP:0012420	Meconium stained amniotic fluid	5244	ABCB4	ORPHA:69665
HP:0012420	Meconium stained amniotic fluid	9971	NR1H4	ORPHA:69665
HP:0012420	Meconium stained amniotic fluid	55023	PHIP	OMIM:617991
HP:0012424	Chorioretinitis	3123	HLA-DRB1	OMIM:181000
HP:0012424	Chorioretinitis	8517	IKBKG	OMIM:301081
HP:0012426	Optic disc drusen	3000	GUCY2D	OMIM:204000
HP:0012426	Optic disc drusen	3000	GUCY2D	ORPHA:65
HP:0012426	Optic disc drusen	26022	TMEM98	OMIM:615972
HP:0012426	Optic disc drusen	3769	KCNJ13	ORPHA:65
HP:0012426	Optic disc drusen	343035	RD3	ORPHA:65
HP:0012426	Optic disc drusen	145226	RDH12	ORPHA:65
HP:0012426	Optic disc drusen	145226	RDH12	ORPHA:791
HP:0012426	Optic disc drusen	1406	CRX	ORPHA:65
HP:0012426	Optic disc drusen	1406	CRX	ORPHA:791
HP:0012426	Optic disc drusen	64802	NMNAT1	ORPHA:65
HP:0012426	Optic disc drusen	57096	RPGRIP1	ORPHA:65
HP:0012426	Optic disc drusen	80184	CEP290	ORPHA:65
HP:0012426	Optic disc drusen	10383	TUBB4B	ORPHA:65
HP:0012426	Optic disc drusen	9742	IFT140	ORPHA:65
HP:0012426	Optic disc drusen	9742	IFT140	ORPHA:791
HP:0012426	Optic disc drusen	85015	USP45	ORPHA:65
HP:0012426	Optic disc drusen	6121	RPE65	ORPHA:65
HP:0012426	Optic disc drusen	6121	RPE65	ORPHA:364055
HP:0012426	Optic disc drusen	6121	RPE65	ORPHA:791
HP:0012426	Optic disc drusen	23418	CRB1	ORPHA:65
HP:0012426	Optic disc drusen	23418	CRB1	ORPHA:791
HP:0012426	Optic disc drusen	5130	PCYT1A	ORPHA:65
HP:0012426	Optic disc drusen	9657	IQCB1	ORPHA:65
HP:0012426	Optic disc drusen	392255	GDF6	ORPHA:65
HP:0012426	Optic disc drusen	23746	AIPL1	ORPHA:65
HP:0012426	Optic disc drusen	9227	LRAT	ORPHA:65
HP:0012426	Optic disc drusen	9227	LRAT	ORPHA:364055
HP:0012426	Optic disc drusen	9227	LRAT	ORPHA:791
HP:0012426	Optic disc drusen	55812	SPATA7	ORPHA:65
HP:0012426	Optic disc drusen	55812	SPATA7	ORPHA:364055
HP:0012426	Optic disc drusen	55812	SPATA7	ORPHA:791
HP:0012426	Optic disc drusen	7287	TULP1	ORPHA:65
HP:0012426	Optic disc drusen	7287	TULP1	ORPHA:791
HP:0012426	Optic disc drusen	167691	LCA5	ORPHA:65
HP:0012426	Optic disc drusen	167691	LCA5	ORPHA:364055
HP:0012426	Optic disc drusen	3614	IMPDH1	ORPHA:65
HP:0012426	Optic disc drusen	3614	IMPDH1	ORPHA:791
HP:0012426	Optic disc drusen	10594	PRPF8	OMIM:600059
HP:0012426	Optic disc drusen	10594	PRPF8	ORPHA:791
HP:0012426	Optic disc drusen	92840	REEP6	ORPHA:791
HP:0012426	Optic disc drusen	6094	ROM1	ORPHA:791
HP:0012426	Optic disc drusen	6017	RLBP1	ORPHA:791
HP:0012426	Optic disc drusen	7401	CLRN1	ORPHA:791
HP:0012426	Optic disc drusen	24	ABCA4	ORPHA:791
HP:0012426	Optic disc drusen	130557	ZNF513	ORPHA:791
HP:0012426	Optic disc drusen	582	BBS1	ORPHA:791
HP:0012426	Optic disc drusen	92211	CDHR1	ORPHA:791
HP:0012426	Optic disc drusen	23568	ARL2BP	ORPHA:791
HP:0012426	Optic disc drusen	54806	AHI1	ORPHA:791
HP:0012426	Optic disc drusen	6101	RP1	ORPHA:791
HP:0012426	Optic disc drusen	3419	IDH3A	ORPHA:791
HP:0012426	Optic disc drusen	4751	NEK2	ORPHA:791
HP:0012426	Optic disc drusen	346007	EYS	ORPHA:791
HP:0012426	Optic disc drusen	8100	IFT88	ORPHA:791
HP:0012426	Optic disc drusen	23020	SNRNP200	ORPHA:791
HP:0012426	Optic disc drusen	762	CA4	ORPHA:791
HP:0012426	Optic disc drusen	138050	HGSNAT	ORPHA:791
HP:0012426	Optic disc drusen	196	AHR	ORPHA:791
HP:0012426	Optic disc drusen	123016	TTC8	ORPHA:791
HP:0012426	Optic disc drusen	6103	RPGR	ORPHA:791
HP:0012426	Optic disc drusen	5148	PDE6G	ORPHA:791
HP:0012426	Optic disc drusen	26160	IFT172	ORPHA:791
HP:0012426	Optic disc drusen	26160	IFT172	OMIM:616394
HP:0012426	Optic disc drusen	26121	PRPF31	ORPHA:791
HP:0012426	Optic disc drusen	583	BBS2	ORPHA:791
HP:0012426	Optic disc drusen	4117	MAK	ORPHA:791
HP:0012426	Optic disc drusen	25794	FSCN2	ORPHA:791
HP:0012426	Optic disc drusen	375298	CERKL	ORPHA:791
HP:0012426	Optic disc drusen	3420	IDH3B	ORPHA:791
HP:0012426	Optic disc drusen	57670	KIAA1549	ORPHA:791
HP:0012426	Optic disc drusen	7275	TUB	ORPHA:791
HP:0012426	Optic disc drusen	24148	PRPF6	ORPHA:791
HP:0012426	Optic disc drusen	10461	MERTK	ORPHA:791
HP:0012426	Optic disc drusen	57709	SLC7A14	ORPHA:791
HP:0012426	Optic disc drusen	768206	PRCD	ORPHA:791
HP:0012426	Optic disc drusen	7399	USH2A	ORPHA:791
HP:0012426	Optic disc drusen	23370	ARHGEF18	ORPHA:791
HP:0012426	Optic disc drusen	5949	RBP3	ORPHA:791
HP:0012426	Optic disc drusen	6010	RHO	ORPHA:791
HP:0012426	Optic disc drusen	6100	RP9	ORPHA:791
HP:0012426	Optic disc drusen	10002	NR2E3	ORPHA:791
HP:0012426	Optic disc drusen	84140	FAM161A	ORPHA:791
HP:0012426	Optic disc drusen	55624	POMGNT1	ORPHA:791
HP:0012426	Optic disc drusen	79797	ZNF408	ORPHA:791
HP:0012426	Optic disc drusen	403	ARL3	ORPHA:791
HP:0012426	Optic disc drusen	5145	PDE6A	ORPHA:791
HP:0012426	Optic disc drusen	10210	TOPORS	ORPHA:791
HP:0012426	Optic disc drusen	8842	PROM1	ORPHA:791
HP:0012426	Optic disc drusen	9128	PRPF4	ORPHA:791
HP:0012426	Optic disc drusen	50939	IMPG2	ORPHA:791
HP:0012426	Optic disc drusen	57545	CC2D2A	ORPHA:791
HP:0012426	Optic disc drusen	8481	OFD1	ORPHA:791
HP:0012426	Optic disc drusen	49855	SCAPER	ORPHA:791
HP:0012426	Optic disc drusen	2979	GUCA1B	ORPHA:791
HP:0012426	Optic disc drusen	1259	CNGA1	ORPHA:791
HP:0012426	Optic disc drusen	1258	CNGB1	ORPHA:791
HP:0012426	Optic disc drusen	60509	AGBL5	ORPHA:791
HP:0012426	Optic disc drusen	5961	PRPH2	ORPHA:791
HP:0012426	Optic disc drusen	388939	PCARE	ORPHA:791
HP:0012426	Optic disc drusen	7439	BEST1	ORPHA:791
HP:0012426	Optic disc drusen	9785	DHX38	ORPHA:791
HP:0012426	Optic disc drusen	5995	RGR	ORPHA:791
HP:0012426	Optic disc drusen	9129	PRPF3	ORPHA:791
HP:0012426	Optic disc drusen	55975	KLHL7	ORPHA:791
HP:0012426	Optic disc drusen	3617	IMPG1	ORPHA:791
HP:0012426	Optic disc drusen	94137	RP1L1	ORPHA:791
HP:0012426	Optic disc drusen	5158	PDE6B	ORPHA:791
HP:0012426	Optic disc drusen	6102	RP2	ORPHA:791
HP:0012426	Optic disc drusen	55857	KIZ	ORPHA:791
HP:0012426	Optic disc drusen	64218	SEMA4A	ORPHA:791
HP:0012426	Optic disc drusen	4901	NRL	ORPHA:791
HP:0012426	Optic disc drusen	157657	CFAP418	ORPHA:791
HP:0012426	Optic disc drusen	84100	ARL6	ORPHA:791
HP:0012426	Optic disc drusen	6295	SAG	ORPHA:791
HP:0012426	Optic disc drusen	79947	DHDDS	ORPHA:791
HP:0012426	Optic disc drusen	64131	XYLT1	OMIM:264800
HP:0012426	Optic disc drusen	64132	XYLT2	OMIM:264800
HP:0012426	Optic disc drusen	368	ABCC6	OMIM:264800
HP:0012426	Optic disc drusen	83552	MFRP	OMIM:611040
HP:0012427	Increased femoral anteversion	26128	KIFBP	OMIM:609460
HP:0012427	Increased femoral anteversion	1836	SLC26A2	ORPHA:56304
HP:0012427	Increased femoral anteversion	2550	GABBR1	OMIM:620502
HP:0012427	Increased femoral anteversion	8567	MADD	OMIM:619005
HP:0012427	Increased femoral anteversion	9898	UBAP2L	OMIM:620494
HP:0012428	Prominent calcaneus	89970	RSPRY1	ORPHA:457395
HP:0012428	Prominent calcaneus	54808	DYM	OMIM:223800
HP:0012428	Prominent calcaneus	23314	SATB2	ORPHA:251028
HP:0012428	Prominent calcaneus	3708	ITPR1	OMIM:117360
HP:0012428	Prominent calcaneus	83987	CCDC8	OMIM:614205
HP:0012428	Prominent calcaneus	84340	GFM2	ORPHA:565624
HP:0012428	Prominent calcaneus	23363	OBSL1	OMIM:612921
HP:0012428	Prominent calcaneus	388015	RTL1	ORPHA:96334
HP:0012428	Prominent calcaneus	8788	DLK1	ORPHA:96334
HP:0012428	Prominent calcaneus	55384	MEG3	ORPHA:96334
HP:0012428	Prominent calcaneus	83452	RAB33B	OMIM:615222
HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	4558	MT-TF	ORPHA:550
HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	4572	MT-TQ	ORPHA:550
HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	4512	MT-CO1	ORPHA:550
HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	4513	MT-CO2	ORPHA:550
HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	4514	MT-CO3	ORPHA:550
HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	4578	MT-TW	ORPHA:550
HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	4540	MT-ND5	ORPHA:550
HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	4541	MT-ND6	ORPHA:550
HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	4535	MT-ND1	ORPHA:550
HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	4538	MT-ND4	ORPHA:550
HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	4567	MT-TL1	ORPHA:550
HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	4574	MT-TS1	ORPHA:550
HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	4575	MT-TS2	ORPHA:550
HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	4564	MT-TH	ORPHA:550
HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	26834	RNU4-2	OMIM:620851
HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	9839	ZEB2	OMIM:235730
HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	5277	PIGA	OMIM:300868
HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	29968	PSAT1	ORPHA:284417
HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	4677	NARS1	OMIM:619091
HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	23028	KDM1A	ORPHA:477993
HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	23028	KDM1A	OMIM:616728
HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	51075	TMX2	OMIM:618730
HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	2232	FDXR	ORPHA:543470
HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	10352	WARS2	ORPHA:572798
HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	112939	NACC1	ORPHA:500545
HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	92335	STRADA	ORPHA:500533
HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	6513	SLC2A1	ORPHA:168577
HP:0033259	Non-motor seizure	6323	SCN1A	OMIM:607208
HP:0033259	Non-motor seizure	6323	SCN1A	OMIM:619317
HP:0033259	Non-motor seizure	6323	SCN1A	ORPHA:36387
HP:0033259	Non-motor seizure	6323	SCN1A	OMIM:604403
HP:0033259	Non-motor seizure	6323	SCN1A	ORPHA:1942
HP:0033259	Non-motor seizure	57526	PCDH19	ORPHA:101039
HP:0033259	Non-motor seizure	57526	PCDH19	OMIM:300088
HP:0033259	Non-motor seizure	84706	GPT2	OMIM:616281
HP:0033259	Non-motor seizure	4524	MTHFR	ORPHA:395
HP:0033259	Non-motor seizure	4791	NFKB2	ORPHA:293978
HP:0033259	Non-motor seizure	26960	NBEA	OMIM:619157
HP:0033259	Non-motor seizure	340533	NEXMIF	OMIM:300912
HP:0033259	Non-motor seizure	340533	NEXMIF	ORPHA:1942
HP:0033259	Non-motor seizure	57468	SLC12A5	OMIM:616685
HP:0033259	Non-motor seizure	348980	HCN1	OMIM:615871
HP:0033259	Non-motor seizure	348980	HCN1	OMIM:618482
HP:0033259	Non-motor seizure	348980	HCN1	ORPHA:36387
HP:0033259	Non-motor seizure	8733	GPAA1	OMIM:617810
HP:0033259	Non-motor seizure	114327	EFHC1	OMIM:254770
HP:0033259	Non-motor seizure	114327	EFHC1	ORPHA:307
HP:0033259	Non-motor seizure	114327	EFHC1	OMIM:607631
HP:0033259	Non-motor seizure	114327	EFHC1	ORPHA:1941
HP:0033259	Non-motor seizure	23334	SZT2	OMIM:615476
HP:0033259	Non-motor seizure	11133	KPTN	OMIM:615637
HP:0033259	Non-motor seizure	781	CACNA2D1	OMIM:620149
HP:0033259	Non-motor seizure	2563	GABRD	ORPHA:307
HP:0033259	Non-motor seizure	2563	GABRD	OMIM:613060
HP:0033259	Non-motor seizure	2563	GABRD	ORPHA:36387
HP:0033259	Non-motor seizure	1181	CLCN2	ORPHA:307
HP:0033259	Non-motor seizure	1181	CLCN2	OMIM:607628
HP:0033259	Non-motor seizure	2554	GABRA1	ORPHA:307
HP:0033259	Non-motor seizure	2554	GABRA1	OMIM:615744
HP:0033259	Non-motor seizure	3786	KCNQ3	ORPHA:307
HP:0033259	Non-motor seizure	3786	KCNQ3	ORPHA:306
HP:0033259	Non-motor seizure	22858	CILK1	ORPHA:307
HP:0033259	Non-motor seizure	22858	CILK1	OMIM:617924
HP:0033259	Non-motor seizure	8629	JRK	ORPHA:307
HP:0033259	Non-motor seizure	785	CACNB4	ORPHA:307
HP:0033259	Non-motor seizure	785	CACNB4	OMIM:607682
HP:0033259	Non-motor seizure	6334	SCN8A	ORPHA:306
HP:0033259	Non-motor seizure	6334	SCN8A	OMIM:614558
HP:0033259	Non-motor seizure	6326	SCN2A	ORPHA:306
HP:0033259	Non-motor seizure	6326	SCN2A	ORPHA:36387
HP:0033259	Non-motor seizure	6326	SCN2A	ORPHA:1934
HP:0033259	Non-motor seizure	112476	PRRT2	ORPHA:306
HP:0033259	Non-motor seizure	112476	PRRT2	ORPHA:98811
HP:0033259	Non-motor seizure	112476	PRRT2	ORPHA:36387
HP:0033259	Non-motor seizure	3785	KCNQ2	ORPHA:306
HP:0033259	Non-motor seizure	79813	EHMT1	ORPHA:96147
HP:0033259	Non-motor seizure	79813	EHMT1	OMIM:610253
HP:0033259	Non-motor seizure	6709	SPTAN1	OMIM:620540
HP:0033259	Non-motor seizure	4076	CAPRIN1	OMIM:620782
HP:0033259	Non-motor seizure	2566	GABRG2	OMIM:607681
HP:0033259	Non-motor seizure	2566	GABRG2	ORPHA:36387
HP:0033259	Non-motor seizure	64324	NSD1	ORPHA:821
HP:0033259	Non-motor seizure	10297	APC2	ORPHA:821
HP:0033259	Non-motor seizure	80232	WDR26	ORPHA:513456
HP:0033259	Non-motor seizure	54344	DPM3	OMIM:618992
HP:0033259	Non-motor seizure	5515	PPP2CA	OMIM:618354
HP:0033259	Non-motor seizure	387119	CEP85L	OMIM:618873
HP:0033259	Non-motor seizure	24137	KIF4A	OMIM:300923
HP:0033259	Non-motor seizure	6096	RORB	OMIM:618357
HP:0033259	Non-motor seizure	112755	STX1B	OMIM:616172
HP:0033259	Non-motor seizure	112755	STX1B	ORPHA:36387
HP:0033259	Non-motor seizure	51741	WWOX	OMIM:616211
HP:0033259	Non-motor seizure	1106	CHD2	OMIM:615369
HP:0033259	Non-motor seizure	1106	CHD2	ORPHA:1942
HP:0033259	Non-motor seizure	478	ATP1A3	OMIM:619606
HP:0033259	Non-motor seizure	2782	GNB1	OMIM:616973
HP:0033259	Non-motor seizure	7532	YWHAG	OMIM:617665
HP:0033259	Non-motor seizure	80055	PGAP1	OMIM:615802
HP:0033259	Non-motor seizure	1476	CSTB	OMIM:254800
HP:0033259	Non-motor seizure	846	CASR	OMIM:612899
HP:0033259	Non-motor seizure	55768	NGLY1	ORPHA:404454
HP:0033259	Non-motor seizure	3908	LAMA2	ORPHA:258
HP:0033259	Non-motor seizure	3778	KCNMA1	ORPHA:79137
HP:0033259	Non-motor seizure	3778	KCNMA1	OMIM:609446
HP:0033259	Non-motor seizure	3778	KCNMA1	OMIM:618729
HP:0033259	Non-motor seizure	347733	TUBB2B	ORPHA:467166
HP:0033259	Non-motor seizure	7846	TUBA1A	ORPHA:467166
HP:0033259	Non-motor seizure	10381	TUBB3	ORPHA:467166
HP:0033259	Non-motor seizure	6609	SMPD1	ORPHA:77293
HP:0033259	Non-motor seizure	3899	AFF3	OMIM:619297
HP:0033259	Non-motor seizure	80224	NUBPL	OMIM:618242
HP:0033259	Non-motor seizure	166378	AFG2A	ORPHA:457351
HP:0033259	Non-motor seizure	79029	AFG2B	OMIM:619616
HP:0033259	Non-motor seizure	116150	NUS1	OMIM:617831
HP:0033259	Non-motor seizure	815	CAMK2A	OMIM:617798
HP:0033259	Non-motor seizure	2664	GDI1	OMIM:300849
HP:0033259	Non-motor seizure	2562	GABRB3	OMIM:612269
HP:0033259	Non-motor seizure	2770	GNAI1	OMIM:619854
HP:0033259	Non-motor seizure	27315	PGAP2	OMIM:614207
HP:0033259	Non-motor seizure	84188	FAR1	OMIM:619338
HP:0033259	Non-motor seizure	1183	CLCN4	ORPHA:485350
HP:0033259	Non-motor seizure	9570	GOSR2	OMIM:620166
HP:0033259	Non-motor seizure	9570	GOSR2	OMIM:614018
HP:0033259	Non-motor seizure	23327	NEDD4L	OMIM:617201
HP:0033259	Non-motor seizure	23152	CIC	OMIM:617600
HP:0033259	Non-motor seizure	4915	NTRK2	OMIM:613886
HP:0033259	Non-motor seizure	1954	MEGF8	OMIM:614976
HP:0033259	Non-motor seizure	6304	SATB1	OMIM:619229
HP:0033259	Non-motor seizure	2903	GRIN2A	ORPHA:98818
HP:0033259	Non-motor seizure	26227	PHGDH	ORPHA:79351
HP:0033259	Non-motor seizure	6513	SLC2A1	ORPHA:98811
HP:0033259	Non-motor seizure	6513	SLC2A1	ORPHA:1942
HP:0033259	Non-motor seizure	1974	EIF4A2	OMIM:620455
HP:0033259	Non-motor seizure	6335	SCN9A	ORPHA:36387
HP:0033259	Non-motor seizure	6324	SCN1B	ORPHA:36387
HP:0033259	Non-motor seizure	6324	SCN1B	OMIM:604233
HP:0033259	Non-motor seizure	6324	SCN1B	ORPHA:1934
HP:0033259	Non-motor seizure	2258	FGF13	ORPHA:36387
HP:0033259	Non-motor seizure	84059	ADGRV1	ORPHA:36387
HP:0033259	Non-motor seizure	64864	RFX7	OMIM:620330
HP:0033259	Non-motor seizure	7915	ALDH5A1	OMIM:271980
HP:0033259	Non-motor seizure	2746	GLUD1	ORPHA:35878
HP:0033259	Non-motor seizure	23316	CUX2	OMIM:618141
HP:0033259	Non-motor seizure	51604	PIGT	OMIM:615398
HP:0033259	Non-motor seizure	51604	PIGT	ORPHA:369837
HP:0033259	Non-motor seizure	5063	PAK3	OMIM:300558
HP:0033259	Non-motor seizure	3747	KCNC2	OMIM:619913
HP:0033259	Non-motor seizure	23443	SLC35A3	OMIM:615553
HP:0033259	Non-motor seizure	23443	SLC35A3	ORPHA:370943
HP:0033259	Non-motor seizure	23040	MYT1L	OMIM:616521
HP:0033259	Non-motor seizure	85440	DOCK7	ORPHA:411986
HP:0033259	Non-motor seizure	527	ATP6V0C	OMIM:620465
HP:0033259	Non-motor seizure	80036	TRPM3	OMIM:620224
HP:0033259	Non-motor seizure	378884	NHLRC1	ORPHA:501
HP:0033259	Non-motor seizure	7957	EPM2A	ORPHA:501
HP:0033259	Non-motor seizure	7957	EPM2A	OMIM:254780
HP:0033259	Non-motor seizure	57459	GATAD2B	ORPHA:363686
HP:0033259	Non-motor seizure	6595	SMARCA2	ORPHA:3051
HP:0033259	Non-motor seizure	55210	ATAD3A	OMIM:617183
HP:0033259	Non-motor seizure	10472	ZBTB18	OMIM:612337
HP:0033259	Non-motor seizure	23031	MAST3	OMIM:620115
HP:0033259	Non-motor seizure	2556	GABRA3	OMIM:301091
HP:0033259	Non-motor seizure	6529	SLC6A1	OMIM:616421
HP:0033259	Non-motor seizure	6529	SLC6A1	ORPHA:1942
HP:0033259	Non-motor seizure	6651	SON	ORPHA:500150
HP:0033259	Non-motor seizure	10743	RAI1	OMIM:182290
HP:0033259	Non-motor seizure	100151683	RNU4ATAC	ORPHA:2636
HP:0033259	Non-motor seizure	2146	EZH2	OMIM:277590
HP:0033259	Non-motor seizure	1719	DHFR	OMIM:613839
HP:0033259	Non-motor seizure	8831	SYNGAP1	ORPHA:1942
HP:0033259	Non-motor seizure	1173	AP2M1	ORPHA:1942
HP:0033259	Non-motor seizure	54936	ADPRS	OMIM:618170
HP:0033259	Non-motor seizure	4204	MECP2	OMIM:300260
HP:0033259	Non-motor seizure	1893	ECM1	OMIM:247100
HP:0033259	Non-motor seizure	8621	CDK13	OMIM:617360
HP:0033259	Non-motor seizure	93183	PIGM	OMIM:610293
HP:0033259	Non-motor seizure	7543	ZFX	OMIM:301118
HP:0033259	Non-motor seizure	93587	TRMT10A	OMIM:616033
HP:0033259	Non-motor seizure	2752	GLUL	OMIM:620806
HP:0033259	Non-motor seizure	2703	GJA8	OMIM:612474
HP:0033259	Non-motor seizure	2702	GJA5	OMIM:612474
HP:0033259	Non-motor seizure	27133	KCNH5	OMIM:620537
HP:0033259	Non-motor seizure	6792	CDKL5	ORPHA:1934
HP:0033259	Non-motor seizure	3736	KCNA1	ORPHA:1934
HP:0033259	Non-motor seizure	9091	PIGQ	ORPHA:1934
HP:0033259	Non-motor seizure	140679	SLC32A1	ORPHA:1934
HP:0033259	Non-motor seizure	2775	GNAO1	ORPHA:1934
HP:0033259	Non-motor seizure	81603	TRIM8	ORPHA:1934
HP:0033259	Non-motor seizure	2902	GRIN1	ORPHA:1934
HP:0033259	Non-motor seizure	79751	SLC25A22	ORPHA:1934
HP:0033259	Non-motor seizure	150094	SIK1	ORPHA:1934
HP:0033259	Non-motor seizure	8573	CASK	ORPHA:1934
HP:0033259	Non-motor seizure	23312	DMXL2	ORPHA:1934
HP:0033259	Non-motor seizure	2917	GRM7	ORPHA:1934
HP:0033259	Non-motor seizure	170302	ARX	ORPHA:1934
HP:0033259	Non-motor seizure	11284	PNKP	ORPHA:1934
HP:0033259	Non-motor seizure	51227	PIGP	ORPHA:1934
HP:0033259	Non-motor seizure	4761	NEUROD2	ORPHA:1934
HP:0033259	Non-motor seizure	7337	UBE3A	ORPHA:98795
HP:0033259	Non-motor seizure	3192	HNRNPU	OMIM:617391
HP:0033259	Non-motor seizure	343450	KCNT2	OMIM:617771
HP:0033259	Non-motor seizure	5530	PPP3CA	OMIM:617711
HP:0033259	Non-motor seizure	1759	DNM1	OMIM:616346
HP:0033259	Non-motor seizure	1759	DNM1	ORPHA:2382
HP:0033259	Non-motor seizure	81570	CLPB	OMIM:619835
HP:0033259	Non-motor seizure	23732	FRRS1L	ORPHA:725
HP:0033259	Non-motor seizure	5048	PAFAH1B1	ORPHA:95232
HP:0033259	Non-motor seizure	27286	SRPX2	ORPHA:1945
HP:0033259	Non-motor seizure	9839	ZEB2	ORPHA:261537
HP:0033259	Non-motor seizure	9839	ZEB2	ORPHA:261552
HP:0033259	Non-motor seizure	5602	MAPK10	ORPHA:2382
HP:0033259	Non-motor seizure	773	CACNA1A	ORPHA:2382
HP:0033259	Non-motor seizure	3745	KCNB1	OMIM:616056
HP:0033259	Non-motor seizure	78987	CRELD1	OMIM:620771
HP:0033259	Non-motor seizure	161725	OTUD7A	OMIM:620790
HP:0033259	Non-motor seizure	6608	SMO	OMIM:241800
HP:0033259	Non-motor seizure	2737	GLI3	ORPHA:672
HP:0033259	Non-motor seizure	55690	PACS1	ORPHA:329224
HP:0033259	Non-motor seizure	23236	PLCB1	ORPHA:293181
HP:0033259	Non-motor seizure	5277	PIGA	ORPHA:293181
HP:0033259	Non-motor seizure	57465	TBC1D24	ORPHA:293181
HP:0033259	Non-motor seizure	10588	MTHFS	OMIM:618367
HP:0033259	Non-motor seizure	10991	SLC38A3	OMIM:619881
HP:0033259	Non-motor seizure	23314	SATB2	ORPHA:576283
HP:0033259	Non-motor seizure	7840	ALMS1	ORPHA:64
HP:0033259	Non-motor seizure	427	ASAH1	ORPHA:2590
HP:0033259	Non-motor seizure	8912	CACNA1H	ORPHA:64280
HP:0033259	Non-motor seizure	1281	COL3A1	OMIM:618343
HP:0033259	Non-motor seizure	9698	PUM1	OMIM:620719
HP:0033259	Non-motor seizure	1859	DYRK1A	ORPHA:268261
HP:0033259	Non-motor seizure	54496	PRMT7	OMIM:617157
HP:0033259	Non-motor seizure	23394	ADNP	OMIM:615873
HP:0033259	Non-motor seizure	23219	FBXO28	OMIM:619777
HP:0033259	Non-motor seizure	3183	HNRNPC	OMIM:620688
HP:0033259	Non-motor seizure	51322	WAC	ORPHA:466950
HP:0033259	Non-motor seizure	1917	EEF1A2	OMIM:616409
HP:0033259	Non-motor seizure	10295	BCKDK	OMIM:614923
HP:0033259	Non-motor seizure	51343	FZR1	OMIM:620145
HP:0033259	Non-motor seizure	3190	HNRNPK	ORPHA:352665
HP:0033259	Non-motor seizure	3190	HNRNPK	ORPHA:453504
HP:0033259	Non-motor seizure	9289	ADGRG1	ORPHA:101070
HP:0033259	Non-motor seizure	5728	PTEN	ORPHA:101070
HP:0033259	Non-motor seizure	79947	DHDDS	OMIM:617836
HP:0033259	Non-motor seizure	23067	SETD1B	OMIM:619000
HP:0033259	Non-motor seizure	133686	NADK2	OMIM:616034
HP:0033259	Non-motor seizure	8659	ALDH4A1	ORPHA:79101
HP:0033259	Non-motor seizure	8813	DPM1	ORPHA:79322
HP:0033259	Non-motor seizure	501	ALDH7A1	ORPHA:3006
HP:0033259	Non-motor seizure	11212	PLPBP	ORPHA:3006
HP:0033259	Non-motor seizure	5649	RELN	ORPHA:101046
HP:0033259	Non-motor seizure	9211	LGI1	ORPHA:101046
HP:0033259	Non-motor seizure	9681	DEPDC5	ORPHA:101046
HP:0033259	Non-motor seizure	57582	KCNT1	OMIM:614959
HP:0033259	Non-motor seizure	5297	PI4KA	ORPHA:98889
HP:0033259	Non-motor seizure	477	ATP1A2	ORPHA:569
HP:0033259	Non-motor seizure	64780	MICAL1	OMIM:600512
HP:0033259	Non-motor seizure	11277	TREX1	ORPHA:247691
HP:0033259	Non-motor seizure	6900	CNTN2	OMIM:615400
HP:0033259	Non-motor seizure	8131	NPRL3	ORPHA:98820
HP:0033259	Non-motor seizure	10641	NPRL2	ORPHA:98820
HP:0033259	Non-motor seizure	26047	CNTNAP2	OMIM:610042
HP:0033259	Non-motor seizure	5138	PDE2A	ORPHA:31709
HP:0033259	Non-motor seizure	51083	GAL	OMIM:616461
HP:0033258	Sudden unexpected death in epilepsy	10815	CPLX1	OMIM:617976
HP:0033258	Sudden unexpected death in epilepsy	6334	SCN8A	OMIM:614558
HP:0033258	Sudden unexpected death in epilepsy	140679	SLC32A1	OMIM:620755
HP:0033258	Sudden unexpected death in epilepsy	6323	SCN1A	OMIM:619317
HP:0033258	Sudden unexpected death in epilepsy	55164	SHQ1	OMIM:619922
HP:0033258	Sudden unexpected death in epilepsy	57465	TBC1D24	OMIM:615338
HP:0033258	Sudden unexpected death in epilepsy	60558	GUF1	OMIM:617065
HP:0033258	Sudden unexpected death in epilepsy	51741	WWOX	OMIM:616211
HP:0033258	Sudden unexpected death in epilepsy	9896	FIG4	OMIM:612691
HP:0033258	Sudden unexpected death in epilepsy	55148	UBR7	OMIM:619189
HP:0004305	Involuntary movements	9361	LONP1	OMIM:600373
HP:0004305	Involuntary movements	26235	FBXL4	OMIM:615471
HP:0004305	Involuntary movements	1119	CHKA	OMIM:620023
HP:0004305	Involuntary movements	57165	GJC2	OMIM:608804
HP:0004305	Involuntary movements	125988	MICOS13	ORPHA:67047
HP:0004305	Involuntary movements	79133	NDUFAF5	OMIM:618238
HP:0004305	Involuntary movements	84520	GON7	OMIM:619603
HP:0004305	Involuntary movements	87178	PNPT1	ORPHA:319514
HP:0004305	Involuntary movements	87178	PNPT1	OMIM:614932
HP:0004305	Involuntary movements	55250	ELP2	OMIM:617270
HP:0004305	Involuntary movements	4704	NDUFA9	OMIM:618247
HP:0004305	Involuntary movements	116228	COX20	OMIM:619054
HP:0004305	Involuntary movements	64207	IRF2BPL	OMIM:618088
HP:0004305	Involuntary movements	51079	NDUFA13	OMIM:618249
HP:0004305	Involuntary movements	7920	ABHD16A	OMIM:619735
HP:0004305	Involuntary movements	6821	SUOX	OMIM:272300
HP:0004305	Involuntary movements	284439	SLC25A42	OMIM:618416
HP:0004305	Involuntary movements	3028	HSD17B10	ORPHA:391428
HP:0004305	Involuntary movements	3028	HSD17B10	OMIM:300438
HP:0004305	Involuntary movements	23533	PIK3R5	ORPHA:64753
HP:0004305	Involuntary movements	7507	XPA	OMIM:278700
HP:0004305	Involuntary movements	1737	DLAT	OMIM:245348
HP:0004305	Involuntary movements	3251	HPRT1	OMIM:300322
HP:0004305	Involuntary movements	116461	TSEN15	ORPHA:2524
HP:0004305	Involuntary movements	7143	TNR	OMIM:619653
HP:0004305	Involuntary movements	10463	SLC30A9	OMIM:617595
HP:0004305	Involuntary movements	5455	POU3F3	OMIM:618604
HP:0004305	Involuntary movements	9439	MED23	OMIM:614249
HP:0004305	Involuntary movements	57731	SPTBN4	OMIM:617519
HP:0004305	Involuntary movements	80067	DCAF17	OMIM:241080
HP:0004305	Involuntary movements	3329	HSPD1	OMIM:612233
HP:0004305	Involuntary movements	8905	AP1S2	OMIM:304340
HP:0004305	Involuntary movements	2068	ERCC2	OMIM:278730
HP:0004305	Involuntary movements	11340	EXOSC8	OMIM:616081
HP:0004305	Involuntary movements	11340	EXOSC8	ORPHA:2254
HP:0004305	Involuntary movements	23287	AGTPBP1	ORPHA:2254
HP:0004305	Involuntary movements	23287	AGTPBP1	OMIM:618276
HP:0004305	Involuntary movements	51010	EXOSC3	ORPHA:2254
HP:0004305	Involuntary movements	51010	EXOSC3	OMIM:614678
HP:0004305	Involuntary movements	6606	SMN1	OMIM:271150
HP:0004305	Involuntary movements	6606	SMN1	OMIM:253400
HP:0004305	Involuntary movements	6606	SMN1	OMIM:253550
HP:0004305	Involuntary movements	6606	SMN1	OMIM:253300
HP:0004305	Involuntary movements	8087	FXR1	OMIM:618822
HP:0004305	Involuntary movements	8087	FXR1	OMIM:618823
HP:0004305	Involuntary movements	6607	SMN2	OMIM:253400
HP:0004305	Involuntary movements	79581	SLC52A2	OMIM:614707
HP:0004305	Involuntary movements	84466	MEGF10	OMIM:614399
HP:0004305	Involuntary movements	23250	ATP11A	OMIM:619851
HP:0004305	Involuntary movements	4724	NDUFS4	OMIM:252010
HP:0004305	Involuntary movements	7317	UBA1	ORPHA:1145
HP:0004305	Involuntary movements	7317	UBA1	OMIM:301830
HP:0004305	Involuntary movements	64856	VWA1	OMIM:619216
HP:0004305	Involuntary movements	203190	LGI3	OMIM:620007
HP:0004305	Involuntary movements	79628	SH3TC2	OMIM:601596
HP:0004305	Involuntary movements	79628	SH3TC2	ORPHA:99949
HP:0004305	Involuntary movements	54936	ADPRS	OMIM:618170
HP:0004305	Involuntary movements	127833	SYT2	OMIM:619461
HP:0004305	Involuntary movements	51305	KCNK9	ORPHA:166108
HP:0004305	Involuntary movements	1959	EGR2	OMIM:145900
HP:0004305	Involuntary movements	57716	PRX	OMIM:145900
HP:0004305	Involuntary movements	25792	CIZ1	ORPHA:420492
HP:0004305	Involuntary movements	5274	SERPINI1	OMIM:604218
HP:0004305	Involuntary movements	158	ADSL	OMIM:103050
HP:0004305	Involuntary movements	10617	STAMBP	OMIM:614261
HP:0004305	Involuntary movements	6309	SC5D	ORPHA:46059
HP:0004305	Involuntary movements	5238	PGM3	ORPHA:443811
HP:0004305	Involuntary movements	5238	PGM3	OMIM:615816
HP:0004305	Involuntary movements	785	CACNB4	OMIM:613855
HP:0004305	Involuntary movements	785	CACNB4	OMIM:607682
HP:0004305	Involuntary movements	55624	POMGNT1	OMIM:253280
HP:0004305	Involuntary movements	10667	FARS2	OMIM:614946
HP:0004305	Involuntary movements	10667	FARS2	ORPHA:466722
HP:0004305	Involuntary movements	4758	NEU1	OMIM:256550
HP:0004305	Involuntary movements	4758	NEU1	ORPHA:93399
HP:0004305	Involuntary movements	4758	NEU1	ORPHA:812
HP:0004305	Involuntary movements	4758	NEU1	ORPHA:93400
HP:0004305	Involuntary movements	132158	GLYCTK	ORPHA:941
HP:0004305	Involuntary movements	132158	GLYCTK	OMIM:220120
HP:0004305	Involuntary movements	2731	GLDC	OMIM:605899
HP:0004305	Involuntary movements	154881	KCTD7	ORPHA:263516
HP:0004305	Involuntary movements	54209	TREM2	OMIM:618193
HP:0004305	Involuntary movements	54209	TREM2	ORPHA:1020
HP:0004305	Involuntary movements	51218	GLRX5	ORPHA:401866
HP:0004305	Involuntary movements	51112	TRAPPC12	ORPHA:500144
HP:0004305	Involuntary movements	51112	TRAPPC12	OMIM:617669
HP:0004305	Involuntary movements	51506	UFC1	OMIM:618076
HP:0004305	Involuntary movements	6311	ATXN2	OMIM:183090
HP:0004305	Involuntary movements	8722	CTSF	OMIM:615362
HP:0004305	Involuntary movements	56997	COQ8A	ORPHA:139485
HP:0004305	Involuntary movements	56997	COQ8A	OMIM:612016
HP:0004305	Involuntary movements	6392	SDHD	OMIM:619167
HP:0004305	Involuntary movements	57465	TBC1D24	ORPHA:352596
HP:0004305	Involuntary movements	57465	TBC1D24	OMIM:608105
HP:0004305	Involuntary movements	57465	TBC1D24	ORPHA:79500
HP:0004305	Involuntary movements	57465	TBC1D24	OMIM:615338
HP:0004305	Involuntary movements	1841	DTYMK	OMIM:619847
HP:0004305	Involuntary movements	55689	YEATS2	OMIM:615127
HP:0004305	Involuntary movements	55689	YEATS2	ORPHA:86814
HP:0004305	Involuntary movements	472	ATM	OMIM:208900
HP:0004305	Involuntary movements	54982	CLN6	OMIM:204300
HP:0004305	Involuntary movements	10501	SEMA6B	OMIM:618876
HP:0004305	Involuntary movements	5610	EIF2AK2	OMIM:618877
HP:0004305	Involuntary movements	55163	PNPO	ORPHA:79096
HP:0004305	Involuntary movements	55163	PNPO	OMIM:610090
HP:0004305	Involuntary movements	3781	KCNN2	OMIM:619724
HP:0004305	Involuntary movements	3781	KCNN2	OMIM:619725
HP:0004305	Involuntary movements	1476	CSTB	OMIM:254800
HP:0004305	Involuntary movements	1476	CSTB	ORPHA:308
HP:0004305	Involuntary movements	5290	PIK3CA	ORPHA:99802
HP:0004305	Involuntary movements	2475	MTOR	ORPHA:99802
HP:0004305	Involuntary movements	10000	AKT3	ORPHA:99802
HP:0004305	Involuntary movements	846	CASR	OMIM:612899
HP:0004305	Involuntary movements	4884	NPTX1	OMIM:620158
HP:0004305	Involuntary movements	56246	MRAP	OMIM:607398
HP:0004305	Involuntary movements	26580	BSCL2	OMIM:615924
HP:0004305	Involuntary movements	26580	BSCL2	ORPHA:363400
HP:0004305	Involuntary movements	63982	ANO3	ORPHA:420485
HP:0004305	Involuntary movements	79693	YRDC	OMIM:619609
HP:0004305	Involuntary movements	23400	ATP13A2	ORPHA:314632
HP:0004305	Involuntary movements	23400	ATP13A2	ORPHA:306674
HP:0004305	Involuntary movements	23400	ATP13A2	OMIM:606693
HP:0004305	Involuntary movements	7259	TSPYL1	ORPHA:168593
HP:0004305	Involuntary movements	7054	TH	OMIM:605407
HP:0004305	Involuntary movements	7054	TH	ORPHA:101150
HP:0004305	Involuntary movements	348	APOE	OMIM:607822
HP:0004305	Involuntary movements	348	APOE	OMIM:606889
HP:0004305	Involuntary movements	5663	PSEN1	OMIM:607822
HP:0004305	Involuntary movements	5663	PSEN1	ORPHA:1020
HP:0004305	Involuntary movements	84992	PIGY	ORPHA:247262
HP:0004305	Involuntary movements	84720	PIGO	ORPHA:247262
HP:0004305	Involuntary movements	284098	PIGW	ORPHA:247262
HP:0004305	Involuntary movements	27315	PGAP2	ORPHA:247262
HP:0004305	Involuntary movements	55650	PIGV	ORPHA:247262
HP:0004305	Involuntary movements	9487	PIGL	ORPHA:247262
HP:0004305	Involuntary movements	535	ATP6V0A1	OMIM:619971
HP:0004305	Involuntary movements	3074	HEXB	ORPHA:309155
HP:0004305	Involuntary movements	2892	GRIA3	OMIM:300699
HP:0004305	Involuntary movements	2892	GRIA3	ORPHA:364028
HP:0004305	Involuntary movements	1600	DAB1	ORPHA:363710
HP:0004305	Involuntary movements	100131801	PET100	OMIM:619055
HP:0004305	Involuntary movements	3899	AFF3	OMIM:619297
HP:0004305	Involuntary movements	25885	POLR1A	OMIM:616462
HP:0004305	Involuntary movements	55037	PTCD3	OMIM:619057
HP:0004305	Involuntary movements	1183	CLCN4	ORPHA:485350
HP:0004305	Involuntary movements	5428	POLG	ORPHA:726
HP:0004305	Involuntary movements	5428	POLG	OMIM:203700
HP:0004305	Involuntary movements	5428	POLG	OMIM:607459
HP:0004305	Involuntary movements	5428	POLG	ORPHA:254881
HP:0004305	Involuntary movements	5428	POLG	ORPHA:70595
HP:0004305	Involuntary movements	54675	CRLS1	OMIM:620167
HP:0004305	Involuntary movements	10939	AFG3L2	ORPHA:313772
HP:0004305	Involuntary movements	10939	AFG3L2	OMIM:614487
HP:0004305	Involuntary movements	55187	VPS13D	ORPHA:95434
HP:0004305	Involuntary movements	55187	VPS13D	OMIM:607317
HP:0004305	Involuntary movements	27072	VPS41	ORPHA:95434
HP:0004305	Involuntary movements	22	ABCB7	OMIM:301310
HP:0004305	Involuntary movements	283989	TSEN54	ORPHA:166063
HP:0004305	Involuntary movements	283989	TSEN54	OMIM:225753
HP:0004305	Involuntary movements	55149	MTPAP	ORPHA:254343
HP:0004305	Involuntary movements	1327	COX4I1	OMIM:619060
HP:0004305	Involuntary movements	10715	CERS1	OMIM:616230
HP:0004305	Involuntary movements	2562	GABRB3	ORPHA:2382
HP:0004305	Involuntary movements	5602	MAPK10	ORPHA:2382
HP:0004305	Involuntary movements	23316	CUX2	ORPHA:2382
HP:0004305	Involuntary movements	1106	CHD2	ORPHA:2382
HP:0004305	Involuntary movements	4566	MT-TK	OMIM:545000
HP:0004305	Involuntary movements	4565	MT-TI	OMIM:545000
HP:0004305	Involuntary movements	4567	MT-TL1	OMIM:545000
HP:0004305	Involuntary movements	4567	MT-TL1	ORPHA:550
HP:0004305	Involuntary movements	4571	MT-TP	OMIM:545000
HP:0004305	Involuntary movements	4558	MT-TF	OMIM:545000
HP:0004305	Involuntary movements	4558	MT-TF	ORPHA:550
HP:0004305	Involuntary movements	4697	NDUFA4	OMIM:619065
HP:0004305	Involuntary movements	2903	GRIN2A	ORPHA:289266
HP:0004305	Involuntary movements	388962	BOLA3	OMIM:614299
HP:0004305	Involuntary movements	1201	CLN3	OMIM:204200
HP:0004305	Involuntary movements	84342	COG8	ORPHA:95428
HP:0004305	Involuntary movements	84342	COG8	OMIM:611182
HP:0004305	Involuntary movements	55361	PI4K2A	OMIM:620732
HP:0004305	Involuntary movements	950	SCARB2	OMIM:254900
HP:0004305	Involuntary movements	950	SCARB2	ORPHA:308
HP:0004305	Involuntary movements	9152	SLC6A5	OMIM:614618
HP:0004305	Involuntary movements	9152	SLC6A5	ORPHA:3197
HP:0004305	Involuntary movements	144165	PRICKLE1	OMIM:612437
HP:0004305	Involuntary movements	144165	PRICKLE1	ORPHA:308
HP:0004305	Involuntary movements	2629	GBA1	OMIM:231000
HP:0004305	Involuntary movements	2743	GLRB	OMIM:614619
HP:0004305	Involuntary movements	2743	GLRB	ORPHA:3197
HP:0004305	Involuntary movements	8398	PLA2G6	ORPHA:199351
HP:0004305	Involuntary movements	84138	SLC7A6OS	OMIM:619191
HP:0004305	Involuntary movements	8021	NUP214	OMIM:618426
HP:0004305	Involuntary movements	3748	KCNC3	ORPHA:98768
HP:0004305	Involuntary movements	3748	KCNC3	OMIM:605259
HP:0004305	Involuntary movements	60481	ELOVL5	OMIM:615957
HP:0004305	Involuntary movements	5582	PRKCG	ORPHA:98763
HP:0004305	Involuntary movements	9533	POLR1C	OMIM:616494
HP:0004305	Involuntary movements	2720	GLB1	OMIM:230650
HP:0004305	Involuntary movements	2904	GRIN2B	OMIM:616139
HP:0004305	Involuntary movements	2904	GRIN2B	ORPHA:3451
HP:0004305	Involuntary movements	3708	ITPR1	OMIM:117360
HP:0004305	Involuntary movements	3708	ITPR1	OMIM:206700
HP:0004305	Involuntary movements	221692	PHACTR1	ORPHA:3451
HP:0004305	Involuntary movements	6487	ST3GAL3	ORPHA:3451
HP:0004305	Involuntary movements	10695	CNPY3	ORPHA:3451
HP:0004305	Involuntary movements	23236	PLCB1	ORPHA:3451
HP:0004305	Involuntary movements	150094	SIK1	ORPHA:3451
HP:0004305	Involuntary movements	150094	SIK1	ORPHA:1934
HP:0004305	Involuntary movements	6709	SPTAN1	ORPHA:3451
HP:0004305	Involuntary movements	6709	SPTAN1	OMIM:620538
HP:0004305	Involuntary movements	60558	GUF1	ORPHA:3451
HP:0004305	Involuntary movements	60558	GUF1	OMIM:617065
HP:0004305	Involuntary movements	170302	ARX	ORPHA:3451
HP:0004305	Involuntary movements	170302	ARX	ORPHA:1934
HP:0004305	Involuntary movements	6326	SCN2A	ORPHA:3451
HP:0004305	Involuntary movements	6326	SCN2A	ORPHA:1934
HP:0004305	Involuntary movements	6326	SCN2A	ORPHA:33069
HP:0004305	Involuntary movements	11152	WDR45	ORPHA:3451
HP:0004305	Involuntary movements	5277	PIGA	ORPHA:3451
HP:0004305	Involuntary movements	5277	PIGA	OMIM:301072
HP:0004305	Involuntary movements	5277	PIGA	OMIM:300868
HP:0004305	Involuntary movements	3662	IRF4	ORPHA:3452
HP:0004305	Involuntary movements	427	ASAH1	ORPHA:2590
HP:0004305	Involuntary movements	427	ASAH1	OMIM:159950
HP:0004305	Involuntary movements	427	ASAH1	ORPHA:333
HP:0004305	Involuntary movements	4677	NARS1	OMIM:619092
HP:0004305	Involuntary movements	55739	NAXD	OMIM:618321
HP:0004305	Involuntary movements	3798	KIF5A	OMIM:617235
HP:0004305	Involuntary movements	55275	VPS53	OMIM:615851
HP:0004305	Involuntary movements	5664	PSEN2	ORPHA:1020
HP:0004305	Involuntary movements	5664	PSEN2	OMIM:606889
HP:0004305	Involuntary movements	10452	TOMM40	ORPHA:1020
HP:0004305	Involuntary movements	351	APP	ORPHA:1020
HP:0004305	Involuntary movements	351	APP	ORPHA:324708
HP:0004305	Involuntary movements	10347	ABCA7	ORPHA:1020
HP:0004305	Involuntary movements	6653	SORL1	ORPHA:1020
HP:0004305	Involuntary movements	3752	KCND3	OMIM:607346
HP:0004305	Involuntary movements	85440	DOCK7	OMIM:615859
HP:0004305	Involuntary movements	85440	DOCK7	ORPHA:411986
HP:0004305	Involuntary movements	114327	EFHC1	ORPHA:1941
HP:0004305	Involuntary movements	84978	FRMD5	OMIM:620094
HP:0004305	Involuntary movements	2055	CLN8	OMIM:600143
HP:0004305	Involuntary movements	27247	NFU1	OMIM:605711
HP:0004305	Involuntary movements	80331	DNAJC5	OMIM:162350
HP:0004305	Involuntary movements	81570	CLPB	OMIM:616271
HP:0004305	Involuntary movements	81570	CLPB	ORPHA:445038
HP:0004305	Involuntary movements	91137	SLC25A46	OMIM:619303
HP:0004305	Involuntary movements	91137	SLC25A46	OMIM:616505
HP:0004305	Involuntary movements	25793	FBXO7	ORPHA:171695
HP:0004305	Involuntary movements	6622	SNCA	ORPHA:171695
HP:0004305	Involuntary movements	6622	SNCA	OMIM:168601
HP:0004305	Involuntary movements	79734	KCTD17	OMIM:616398
HP:0004305	Involuntary movements	79734	KCTD17	ORPHA:36899
HP:0004305	Involuntary movements	6872	TAF1	OMIM:314250
HP:0004305	Involuntary movements	6872	TAF1	ORPHA:53351
HP:0004305	Involuntary movements	5813	PURA	OMIM:616158
HP:0004305	Involuntary movements	5813	PURA	ORPHA:314655
HP:0004305	Involuntary movements	78987	CRELD1	OMIM:620771
HP:0004305	Involuntary movements	9091	PIGQ	ORPHA:1934
HP:0004305	Involuntary movements	140679	SLC32A1	ORPHA:1934
HP:0004305	Involuntary movements	81603	TRIM8	ORPHA:1934
HP:0004305	Involuntary movements	79751	SLC25A22	ORPHA:1934
HP:0004305	Involuntary movements	8573	CASK	ORPHA:1934
HP:0004305	Involuntary movements	23312	DMXL2	ORPHA:1934
HP:0004305	Involuntary movements	2917	GRM7	ORPHA:1934
HP:0004305	Involuntary movements	11284	PNKP	ORPHA:1934
HP:0004305	Involuntary movements	51227	PIGP	ORPHA:1934
HP:0004305	Involuntary movements	6324	SCN1B	ORPHA:1934
HP:0004305	Involuntary movements	6324	SCN1B	ORPHA:33069
HP:0004305	Involuntary movements	4761	NEUROD2	ORPHA:1934
HP:0004305	Involuntary movements	3155	HMGCL	ORPHA:20
HP:0004305	Involuntary movements	3155	HMGCL	OMIM:246450
HP:0004305	Involuntary movements	4572	MT-TQ	ORPHA:550
HP:0004305	Involuntary movements	4512	MT-CO1	ORPHA:550
HP:0004305	Involuntary movements	4513	MT-CO2	ORPHA:550
HP:0004305	Involuntary movements	4514	MT-CO3	ORPHA:550
HP:0004305	Involuntary movements	4578	MT-TW	ORPHA:550
HP:0004305	Involuntary movements	4540	MT-ND5	ORPHA:550
HP:0004305	Involuntary movements	4541	MT-ND6	ORPHA:550
HP:0004305	Involuntary movements	4535	MT-ND1	ORPHA:550
HP:0004305	Involuntary movements	4538	MT-ND4	ORPHA:550
HP:0004305	Involuntary movements	4574	MT-TS1	ORPHA:550
HP:0004305	Involuntary movements	4575	MT-TS2	ORPHA:550
HP:0004305	Involuntary movements	4564	MT-TH	ORPHA:550
HP:0004305	Involuntary movements	1173	AP2M1	OMIM:618587
HP:0004305	Involuntary movements	4723	NDUFV1	OMIM:618225
HP:0004305	Involuntary movements	2653	GCSH	OMIM:620423
HP:0004305	Involuntary movements	9256	TSPOAP1	ORPHA:101150
HP:0004305	Involuntary movements	23114	NFASC	OMIM:618356
HP:0004305	Involuntary movements	6096	RORB	OMIM:618357
HP:0004305	Involuntary movements	5160	PDHA1	OMIM:312170
HP:0004305	Involuntary movements	2782	GNB1	OMIM:616973
HP:0004305	Involuntary movements	23095	KIF1B	OMIM:256700
HP:0004305	Involuntary movements	6900	CNTN2	OMIM:615400
HP:0004305	Involuntary movements	6900	CNTN2	ORPHA:86814
HP:0004305	Involuntary movements	5660	PSAP	ORPHA:139406
HP:0004305	Involuntary movements	5660	PSAP	OMIM:611721
HP:0004305	Involuntary movements	5660	PSAP	OMIM:610539
HP:0004305	Involuntary movements	5660	PSAP	ORPHA:206436
HP:0004305	Involuntary movements	29968	PSAT1	OMIM:610992
HP:0004305	Involuntary movements	29968	PSAT1	ORPHA:284417
HP:0004305	Involuntary movements	91869	RFT1	OMIM:612015
HP:0004305	Involuntary movements	1644	DDC	OMIM:608643
HP:0004305	Involuntary movements	8869	ST3GAL5	OMIM:609056
HP:0004305	Involuntary movements	7337	UBE3A	ORPHA:98794
HP:0004305	Involuntary movements	4948	OCA2	ORPHA:98794
HP:0004305	Involuntary movements	4694	NDUFA1	OMIM:301020
HP:0004305	Involuntary movements	3192	HNRNPU	OMIM:617391
HP:0004305	Involuntary movements	27235	COQ2	OMIM:607426
HP:0004305	Involuntary movements	25915	NDUFAF3	OMIM:618240
HP:0004305	Involuntary movements	23732	FRRS1L	OMIM:616981
HP:0004305	Involuntary movements	55572	FOXRED1	OMIM:618241
HP:0004305	Involuntary movements	3746	KCNC1	OMIM:616187
HP:0004305	Involuntary movements	378884	NHLRC1	OMIM:620681
HP:0004305	Involuntary movements	378884	NHLRC1	ORPHA:501
HP:0004305	Involuntary movements	3119	HLA-DQB1	OMIM:123400
HP:0004305	Involuntary movements	8604	SLC25A12	OMIM:612949
HP:0004305	Involuntary movements	5805	PTS	ORPHA:13
HP:0004305	Involuntary movements	23258	DENND5A	OMIM:617281
HP:0004305	Involuntary movements	1813	DRD2	ORPHA:36899
HP:0004305	Involuntary movements	8910	SGCE	ORPHA:36899
HP:0004305	Involuntary movements	8910	SGCE	OMIM:159900
HP:0004305	Involuntary movements	1861	TOR1A	ORPHA:36899
HP:0004305	Involuntary movements	2741	GLRA1	ORPHA:3197
HP:0004305	Involuntary movements	2741	GLRA1	OMIM:149400
HP:0004305	Involuntary movements	10243	GPHN	ORPHA:3197
HP:0004305	Involuntary movements	10243	GPHN	OMIM:149400
HP:0004305	Involuntary movements	84896	ATAD1	ORPHA:3197
HP:0004305	Involuntary movements	84896	ATAD1	OMIM:618011
HP:0004305	Involuntary movements	9757	KMT2B	OMIM:617284
HP:0004305	Involuntary movements	51300	TIMMDC1	OMIM:618251
HP:0004305	Involuntary movements	8802	SUCLG1	ORPHA:17
HP:0004305	Involuntary movements	23152	CIC	OMIM:617600
HP:0004305	Involuntary movements	6304	SATB1	OMIM:619229
HP:0004305	Involuntary movements	79736	TEFM	OMIM:620451
HP:0004305	Involuntary movements	9997	SCO2	OMIM:604377
HP:0004305	Involuntary movements	11212	PLPBP	OMIM:617290
HP:0004305	Involuntary movements	11019	LIAS	OMIM:614462
HP:0004305	Involuntary movements	56978	PRDM8	OMIM:616640
HP:0004305	Involuntary movements	56978	PRDM8	ORPHA:324290
HP:0004305	Involuntary movements	4361	MRE11	ORPHA:251347
HP:0004305	Involuntary movements	6335	SCN9A	ORPHA:33069
HP:0004305	Involuntary movements	2554	GABRA1	ORPHA:33069
HP:0004305	Involuntary movements	57526	PCDH19	ORPHA:33069
HP:0004305	Involuntary movements	7957	EPM2A	ORPHA:501
HP:0004305	Involuntary movements	7957	EPM2A	OMIM:254780
HP:0004305	Involuntary movements	526	ATP6V1B2	ORPHA:79500
HP:0004305	Involuntary movements	56910	STARD7	OMIM:607876
HP:0004305	Involuntary movements	151	ADRA2B	ORPHA:86814
HP:0004305	Involuntary movements	1501	CTNND2	ORPHA:86814
HP:0004305	Involuntary movements	10299	MARCHF6	ORPHA:86814
HP:0004305	Involuntary movements	10299	MARCHF6	OMIM:613608
HP:0004305	Involuntary movements	401474	SAMD12	ORPHA:86814
HP:0004305	Involuntary movements	374354	NHLRC2	OMIM:618278
HP:0004305	Involuntary movements	9326	ZNHIT3	OMIM:260565
HP:0004305	Involuntary movements	55145	THAP1	OMIM:602629
HP:0004305	Involuntary movements	55704	CCDC88A	OMIM:617507
HP:0004305	Involuntary movements	1200	TPP1	OMIM:204500
HP:0004305	Involuntary movements	6663	SOX10	OMIM:609136
HP:0004305	Involuntary movements	2593	GAMT	OMIM:612736
HP:0004305	Involuntary movements	60386	SLC25A19	OMIM:607196
HP:0004305	Involuntary movements	25978	CHMP2B	OMIM:600795
HP:0004305	Involuntary movements	4508	MT-ATP6	ORPHA:225154
HP:0004305	Involuntary movements	23636	NUP62	ORPHA:225154
HP:0004305	Involuntary movements	53371	NUP54	ORPHA:225154
HP:0004305	Involuntary movements	103	ADAR	ORPHA:225154
HP:0004305	Involuntary movements	777	CACNA1E	OMIM:618285
HP:0004305	Involuntary movements	84823	LMNB2	OMIM:616540
HP:0004305	Involuntary movements	5538	PPT1	OMIM:256730
HP:0004305	Involuntary movements	1203	CLN5	OMIM:256731
HP:0004305	Involuntary movements	4668	NAGA	OMIM:609241
HP:0004305	Involuntary movements	4668	NAGA	ORPHA:79279
HP:0004305	Involuntary movements	55005	RMND1	OMIM:614922
HP:0004305	Involuntary movements	2581	GALC	ORPHA:206436
HP:0004305	Involuntary movements	6389	SDHA	OMIM:252011
HP:0004305	Involuntary movements	5860	QDPR	OMIM:261630
HP:0004305	Involuntary movements	1468	SLC25A10	OMIM:618972
HP:0004305	Involuntary movements	84274	COQ5	OMIM:619028
HP:0004305	Involuntary movements	7305	TYROBP	OMIM:221770
HP:0004305	Involuntary movements	9907	AP5Z1	ORPHA:306511
HP:0004305	Involuntary movements	9570	GOSR2	OMIM:614018
HP:0004305	Involuntary movements	8996	NOL3	OMIM:614937
HP:0004305	Involuntary movements	26275	HIBCH	OMIM:250620
HP:0004305	Involuntary movements	4613	MYCN	ORPHA:635
HP:0004305	Involuntary movements	238	ALK	ORPHA:635
HP:0004305	Involuntary movements	389421	LIN28B	ORPHA:635
HP:0004305	Involuntary movements	4004	LMO1	ORPHA:635
HP:0004305	Involuntary movements	57531	HACE1	ORPHA:635
HP:0004305	Involuntary movements	8929	PHOX2B	ORPHA:635
HP:0004305	Involuntary movements	10749	KIF1C	ORPHA:397946
HP:0004305	Involuntary movements	10749	KIF1C	OMIM:611302
HP:0004305	Involuntary movements	7528	YY1	ORPHA:506358
HP:0004305	Involuntary movements	7528	YY1	OMIM:617557
HP:0004305	Involuntary movements	7528	YY1	ORPHA:97279
HP:0004305	Involuntary movements	55703	POLR3B	OMIM:614381
HP:0004305	Involuntary movements	55703	POLR3B	OMIM:607694
HP:0004305	Involuntary movements	60684	TRAPPC11	OMIM:615356
HP:0004305	Involuntary movements	4860	PNP	OMIM:613179
HP:0004305	Involuntary movements	1161	ERCC8	ORPHA:90321
HP:0004305	Involuntary movements	1161	ERCC8	OMIM:216400
HP:0004305	Involuntary movements	2072	ERCC4	ORPHA:90321
HP:0004305	Involuntary movements	2072	ERCC4	OMIM:278760
HP:0004305	Involuntary movements	2074	ERCC6	ORPHA:90321
HP:0004305	Involuntary movements	2074	ERCC6	OMIM:133540
HP:0004305	Involuntary movements	5631	PRPS1	ORPHA:99014
HP:0004305	Involuntary movements	1639	DCTN1	ORPHA:178509
HP:0004305	Involuntary movements	1639	DCTN1	OMIM:168605
HP:0004305	Involuntary movements	65993	MRPS34	OMIM:617664
HP:0004305	Involuntary movements	23322	RPGRIP1L	ORPHA:220497
HP:0004305	Involuntary movements	23322	RPGRIP1L	ORPHA:1454
HP:0004305	Involuntary movements	4867	NPHP1	ORPHA:220497
HP:0004305	Involuntary movements	65062	TMEM237	ORPHA:220497
HP:0004305	Involuntary movements	65062	TMEM237	ORPHA:475
HP:0004305	Involuntary movements	101060691	NUTM2B-AS1	OMIM:618637
HP:0004305	Involuntary movements	54806	AHI1	ORPHA:220493
HP:0004305	Involuntary movements	54806	AHI1	ORPHA:475
HP:0004305	Involuntary movements	56623	INPP5E	ORPHA:220493
HP:0004305	Involuntary movements	56623	INPP5E	ORPHA:475
HP:0004305	Involuntary movements	56623	INPP5E	ORPHA:1454
HP:0004305	Involuntary movements	153241	CEP120	ORPHA:220493
HP:0004305	Involuntary movements	153241	CEP120	ORPHA:475
HP:0004305	Involuntary movements	54903	MKS1	ORPHA:220493
HP:0004305	Involuntary movements	54903	MKS1	ORPHA:475
HP:0004305	Involuntary movements	95681	CEP41	ORPHA:220493
HP:0004305	Involuntary movements	95681	CEP41	ORPHA:475
HP:0004305	Involuntary movements	100996717	NOTCH2NLC	OMIM:603472
HP:0004305	Involuntary movements	100996717	NOTCH2NLC	OMIM:619473
HP:0004305	Involuntary movements	60482	SLC5A7	OMIM:158580
HP:0004305	Involuntary movements	51816	ADA2	OMIM:182410
HP:0004305	Involuntary movements	51816	ADA2	ORPHA:820
HP:0004305	Involuntary movements	5832	ALDH18A1	OMIM:616586
HP:0004305	Involuntary movements	5832	ALDH18A1	ORPHA:447753
HP:0004305	Involuntary movements	55154	MSTO1	OMIM:617675
HP:0004305	Involuntary movements	55154	MSTO1	ORPHA:502423
HP:0004305	Involuntary movements	64834	ELOVL1	OMIM:618527
HP:0004305	Involuntary movements	9692	PRORP	OMIM:619737
HP:0004305	Involuntary movements	10352	WARS2	OMIM:619738
HP:0004305	Involuntary movements	10352	WARS2	ORPHA:572798
HP:0004305	Involuntary movements	10352	WARS2	OMIM:617710
HP:0004305	Involuntary movements	1130	LYST	ORPHA:167
HP:0004305	Involuntary movements	1130	LYST	OMIM:214500
HP:0004305	Involuntary movements	9217	VAPB	ORPHA:209335
HP:0004305	Involuntary movements	9217	VAPB	OMIM:182980
HP:0004305	Involuntary movements	54968	TMEM70	OMIM:614052
HP:0004305	Involuntary movements	83636	C19orf12	OMIM:614298
HP:0004305	Involuntary movements	54840	APTX	OMIM:208920
HP:0004305	Involuntary movements	54832	VPS13C	ORPHA:2828
HP:0004305	Involuntary movements	11315	PARK7	ORPHA:2828
HP:0004305	Involuntary movements	7345	UCHL1	ORPHA:2828
HP:0004305	Involuntary movements	27429	HTRA2	ORPHA:2828
HP:0004305	Involuntary movements	27429	HTRA2	OMIM:617248
HP:0004305	Involuntary movements	27429	HTRA2	OMIM:610297
HP:0004305	Involuntary movements	120892	LRRK2	ORPHA:2828
HP:0004305	Involuntary movements	65018	PINK1	ORPHA:2828
HP:0004305	Involuntary movements	5071	PRKN	ORPHA:2828
HP:0004305	Involuntary movements	5071	PRKN	OMIM:600116
HP:0004305	Involuntary movements	5373	PMM2	OMIM:212065
HP:0004305	Involuntary movements	9851	KIAA0753	ORPHA:475
HP:0004305	Involuntary movements	9851	KIAA0753	ORPHA:2754
HP:0004305	Involuntary movements	5147	PDE6D	ORPHA:475
HP:0004305	Involuntary movements	5147	PDE6D	ORPHA:2754
HP:0004305	Involuntary movements	79600	TCTN1	ORPHA:475
HP:0004305	Involuntary movements	79848	CSPP1	ORPHA:475
HP:0004305	Involuntary movements	8481	OFD1	ORPHA:475
HP:0004305	Involuntary movements	8481	OFD1	ORPHA:2750
HP:0004305	Involuntary movements	8481	OFD1	ORPHA:2754
HP:0004305	Involuntary movements	51684	SUFU	ORPHA:475
HP:0004305	Involuntary movements	65250	CPLANE1	ORPHA:475
HP:0004305	Involuntary movements	65250	CPLANE1	ORPHA:65684
HP:0004305	Involuntary movements	65250	CPLANE1	ORPHA:2754
HP:0004305	Involuntary movements	91147	TMEM67	ORPHA:475
HP:0004305	Involuntary movements	91147	TMEM67	ORPHA:1454
HP:0004305	Involuntary movements	200894	ARL13B	ORPHA:475
HP:0004305	Involuntary movements	9731	CEP104	ORPHA:475
HP:0004305	Involuntary movements	219844	HYLS1	ORPHA:475
HP:0004305	Involuntary movements	23247	KATNIP	ORPHA:475
HP:0004305	Involuntary movements	219854	TMEM218	ORPHA:475
HP:0004305	Involuntary movements	9786	KIAA0586	ORPHA:475
HP:0004305	Involuntary movements	26123	TCTN3	ORPHA:475
HP:0004305	Involuntary movements	26123	TCTN3	ORPHA:2754
HP:0004305	Involuntary movements	79867	TCTN2	ORPHA:475
HP:0004305	Involuntary movements	80776	B9D2	ORPHA:475
HP:0004305	Involuntary movements	10464	PIBF1	ORPHA:475
HP:0004305	Involuntary movements	80210	ARMC9	ORPHA:475
HP:0004305	Involuntary movements	23116	TOGARAM1	ORPHA:475
HP:0004305	Involuntary movements	25776	CBY1	ORPHA:475
HP:0004305	Involuntary movements	27077	B9D1	ORPHA:475
HP:0004305	Involuntary movements	403	ARL3	ORPHA:475
HP:0004305	Involuntary movements	80173	IFT74	ORPHA:475
HP:0004305	Involuntary movements	54902	TTC19	OMIM:615157
HP:0004305	Involuntary movements	7428	VHL	ORPHA:29072
HP:0004305	Involuntary movements	7428	VHL	ORPHA:276621
HP:0004305	Involuntary movements	1743	DLST	ORPHA:29072
HP:0004305	Involuntary movements	4191	MDH2	ORPHA:29072
HP:0004305	Involuntary movements	5979	RET	ORPHA:29072
HP:0004305	Involuntary movements	5979	RET	ORPHA:276621
HP:0004305	Involuntary movements	2271	FH	ORPHA:29072
HP:0004305	Involuntary movements	8402	SLC25A11	ORPHA:29072
HP:0004305	Involuntary movements	54949	SDHAF2	ORPHA:29072
HP:0004305	Involuntary movements	55654	TMEM127	ORPHA:29072
HP:0004305	Involuntary movements	4763	NF1	ORPHA:29072
HP:0004305	Involuntary movements	6391	SDHC	ORPHA:29072
HP:0004305	Involuntary movements	6390	SDHB	ORPHA:29072
HP:0004305	Involuntary movements	6390	SDHB	ORPHA:276621
HP:0004305	Involuntary movements	4149	MAX	ORPHA:29072
HP:0004305	Involuntary movements	7701	ZNF142	OMIM:618425
HP:0004305	Involuntary movements	2643	GCH1	OMIM:233910
HP:0004305	Involuntary movements	2705	GJB1	ORPHA:101075
HP:0004305	Involuntary movements	2705	GJB1	OMIM:302800
HP:0004305	Involuntary movements	100134444	KCNJ18	ORPHA:79102
HP:0004305	Involuntary movements	100134444	KCNJ18	OMIM:613239
HP:0004305	Involuntary movements	2556	GABRA3	ORPHA:79102
HP:0004305	Involuntary movements	779	CACNA1S	ORPHA:79102
HP:0004305	Involuntary movements	166785	MMAA	OMIM:251100
HP:0004305	Involuntary movements	4644	MYO5A	ORPHA:33445
HP:0004305	Involuntary movements	8733	GPAA1	ORPHA:529665
HP:0004305	Involuntary movements	8733	GPAA1	OMIM:617810
HP:0004305	Involuntary movements	5205	ATP8B1	ORPHA:69665
HP:0004305	Involuntary movements	8647	ABCB11	ORPHA:69665
HP:0004305	Involuntary movements	5244	ABCB4	ORPHA:69665
HP:0004305	Involuntary movements	9971	NR1H4	ORPHA:69665
HP:0004305	Involuntary movements	4076	CAPRIN1	OMIM:620636
HP:0004305	Involuntary movements	400916	CHCHD10	OMIM:615048
HP:0004305	Involuntary movements	400916	CHCHD10	ORPHA:276435
HP:0004305	Involuntary movements	10342	TFG	ORPHA:90117
HP:0004305	Involuntary movements	10531	PITRM1	OMIM:619405
HP:0004305	Involuntary movements	146227	BEAN1	ORPHA:217012
HP:0004305	Involuntary movements	540	ATP7B	OMIM:277900
HP:0004305	Involuntary movements	540	ATP7B	ORPHA:905
HP:0004305	Involuntary movements	23556	PIGN	OMIM:614080
HP:0004305	Involuntary movements	23556	PIGN	ORPHA:280633
HP:0004305	Involuntary movements	5354	PLP1	OMIM:312080
HP:0004305	Involuntary movements	388662	SLC6A17	OMIM:616269
HP:0004305	Involuntary movements	2678	GGT1	OMIM:231950
HP:0004305	Involuntary movements	6843	VAMP1	ORPHA:251282
HP:0004305	Involuntary movements	340533	NEXMIF	ORPHA:1942
HP:0004305	Involuntary movements	6529	SLC6A1	ORPHA:1942
HP:0004305	Involuntary movements	6529	SLC6A1	OMIM:616421
HP:0004305	Involuntary movements	6812	STXBP1	ORPHA:599373
HP:0004305	Involuntary movements	6812	STXBP1	OMIM:612164
HP:0004305	Involuntary movements	10533	ATG7	OMIM:619422
HP:0004305	Involuntary movements	4509	MT-ATP8	ORPHA:480
HP:0004305	Involuntary movements	50484	RRM2B	ORPHA:480
HP:0004305	Involuntary movements	50484	RRM2B	ORPHA:254892
HP:0004305	Involuntary movements	4633	MYL2	OMIM:619424
HP:0004305	Involuntary movements	4001	LMNB1	ORPHA:99027
HP:0004305	Involuntary movements	2260	FGFR1	ORPHA:478
HP:0004305	Involuntary movements	10371	SEMA3A	ORPHA:478
HP:0004305	Involuntary movements	81848	SPRY4	ORPHA:478
HP:0004305	Involuntary movements	23767	FLRT3	ORPHA:478
HP:0004305	Involuntary movements	128674	PROKR2	ORPHA:478
HP:0004305	Involuntary movements	79625	NDNF	ORPHA:478
HP:0004305	Involuntary movements	2253	FGF8	ORPHA:478
HP:0004305	Involuntary movements	389549	FEZF1	ORPHA:478
HP:0004305	Involuntary movements	1630	DCC	ORPHA:478
HP:0004305	Involuntary movements	3730	ANOS1	ORPHA:478
HP:0004305	Involuntary movements	54756	IL17RD	ORPHA:478
HP:0004305	Involuntary movements	285025	CCDC141	ORPHA:478
HP:0004305	Involuntary movements	60675	PROK2	ORPHA:478
HP:0004305	Involuntary movements	55636	CHD7	ORPHA:478
HP:0004305	Involuntary movements	1848	DUSP6	ORPHA:478
HP:0004305	Involuntary movements	6870	TACR3	ORPHA:478
HP:0004305	Involuntary movements	55717	WDR11	ORPHA:478
HP:0004305	Involuntary movements	9394	HS6ST1	ORPHA:478
HP:0004305	Involuntary movements	8820	HESX1	ORPHA:478
HP:0004305	Involuntary movements	8822	FGF17	ORPHA:478
HP:0004305	Involuntary movements	435	ASL	ORPHA:23
HP:0004305	Involuntary movements	2639	GCDH	ORPHA:25
HP:0004305	Involuntary movements	291	SLC25A4	ORPHA:254892
HP:0004305	Involuntary movements	11232	POLG2	ORPHA:254892
HP:0004305	Involuntary movements	353116	RILPL1	OMIM:619790
HP:0004305	Involuntary movements	10059	DNM1L	ORPHA:330050
HP:0004305	Involuntary movements	6134	RPL10	OMIM:300998
HP:0004305	Involuntary movements	23013	SPEN	OMIM:619312
HP:0004305	Involuntary movements	30000	TNPO2	OMIM:619556
HP:0004305	Involuntary movements	23516	SLC39A14	OMIM:617013
HP:0004305	Involuntary movements	23516	SLC39A14	ORPHA:521406
HP:0004305	Involuntary movements	54517	PUS7	OMIM:618342
HP:0004305	Involuntary movements	4311	MME	OMIM:617018
HP:0004305	Involuntary movements	1798	DPAGT1	OMIM:608093
HP:0004305	Involuntary movements	1798	DPAGT1	ORPHA:86309
HP:0004305	Involuntary movements	84320	ACBD6	OMIM:620785
HP:0004305	Involuntary movements	10102	TSFM	OMIM:610505
HP:0004305	Involuntary movements	10312	TCIRG1	ORPHA:667
HP:0004305	Involuntary movements	1186	CLCN7	ORPHA:667
HP:0004305	Involuntary movements	29887	SNX10	ORPHA:667
HP:0004305	Involuntary movements	8600	TNFSF11	ORPHA:667
HP:0004305	Involuntary movements	123606	NIPA1	OMIM:600363
HP:0004305	Involuntary movements	5575	PRKAR1B	OMIM:619680
HP:0004305	Involuntary movements	3712	IVD	ORPHA:33
HP:0004305	Involuntary movements	440193	CCDC88C	OMIM:616053
HP:0004305	Involuntary movements	8878	SQSTM1	OMIM:617145
HP:0004305	Involuntary movements	1491	CTH	ORPHA:212
HP:0004305	Involuntary movements	51132	RLIM	OMIM:300978
HP:0004305	Involuntary movements	182	JAG1	OMIM:619574
HP:0004305	Involuntary movements	8622	PDE8B	OMIM:609161
HP:0004305	Involuntary movements	400569	MED11	OMIM:620327
HP:0004305	Involuntary movements	23203	PMPCA	OMIM:213200
HP:0004305	Involuntary movements	23203	PMPCA	ORPHA:1170
HP:0004305	Involuntary movements	6898	TAT	ORPHA:28378
HP:0004305	Involuntary movements	3172	HNF4A	ORPHA:263455
HP:0004305	Involuntary movements	8091	HMGA2	ORPHA:94063
HP:0004305	Involuntary movements	23592	LEMD3	ORPHA:94063
HP:0004305	Involuntary movements	55630	SLC39A4	OMIM:201100
HP:0004305	Involuntary movements	9758	FRMPD4	OMIM:300983
HP:0004305	Involuntary movements	57187	THOC2	ORPHA:457240
HP:0004305	Involuntary movements	57187	THOC2	OMIM:300957
HP:0004305	Involuntary movements	6697	SPR	OMIM:612716
HP:0004305	Involuntary movements	6697	SPR	ORPHA:70594
HP:0004305	Involuntary movements	84065	TMEM222	OMIM:619470
HP:0004305	Involuntary movements	65260	COA7	OMIM:618387
HP:0004305	Involuntary movements	10846	PDE10A	ORPHA:494526
HP:0004305	Involuntary movements	10846	PDE10A	OMIM:616921
HP:0004305	Involuntary movements	9927	MFN2	OMIM:609260
HP:0004305	Involuntary movements	4221	MEN1	ORPHA:97279
HP:0004305	Involuntary movements	7204	TRIO	OMIM:617061
HP:0004305	Involuntary movements	7204	TRIO	ORPHA:476126
HP:0004305	Involuntary movements	128240	NAXE	OMIM:617186
HP:0004305	Involuntary movements	4841	NONO	OMIM:300967
HP:0004305	Involuntary movements	8450	CUL4B	ORPHA:85293
HP:0004305	Involuntary movements	8450	CUL4B	OMIM:300354
HP:0004305	Involuntary movements	1650	DDOST	ORPHA:300536
HP:0004305	Involuntary movements	1493	CTLA4	ORPHA:3162
HP:0004305	Involuntary movements	940	CD28	ORPHA:3162
HP:0004305	Involuntary movements	7133	TNFRSF1B	ORPHA:3162
HP:0004305	Involuntary movements	6571	SLC18A2	OMIM:618049
HP:0004305	Involuntary movements	6571	SLC18A2	ORPHA:352649
HP:0004305	Involuntary movements	727676	SNORD118	ORPHA:542310
HP:0004305	Involuntary movements	727676	SNORD118	OMIM:614561
HP:0004305	Involuntary movements	55074	OXR1	OMIM:213000
HP:0004305	Involuntary movements	1678	TIMM8A	ORPHA:52368
HP:0004305	Involuntary movements	1678	TIMM8A	OMIM:304700
HP:0004305	Involuntary movements	57562	CEP126	ORPHA:65684
HP:0004305	Involuntary movements	221927	BRAT1	OMIM:618056
HP:0004305	Involuntary movements	4287	ATXN3	OMIM:168600
HP:0004305	Involuntary movements	126	ADH1C	OMIM:168600
HP:0004305	Involuntary movements	4576	MT-TT	OMIM:168600
HP:0004305	Involuntary movements	9627	SNCAIP	OMIM:168600
HP:0004305	Involuntary movements	4929	NR4A2	OMIM:168600
HP:0004305	Involuntary movements	6315	ATXN8OS	OMIM:168600
HP:0004305	Involuntary movements	6315	ATXN8OS	OMIM:608768
HP:0004305	Involuntary movements	9898	UBAP2L	OMIM:620494
HP:0004305	Involuntary movements	6095	RORA	OMIM:618060
HP:0004305	Involuntary movements	10128	LRPPRC	OMIM:220111
HP:0004305	Involuntary movements	5376	PMP22	OMIM:118300
HP:0004305	Involuntary movements	123263	MTFMT	OMIM:614947
HP:0004305	Involuntary movements	80207	OPA3	OMIM:165300
HP:0004305	Involuntary movements	64324	NSD1	ORPHA:821
HP:0004305	Involuntary movements	10297	APC2	ORPHA:821
HP:0004305	Involuntary movements	9690	UBE3C	OMIM:620270
HP:0004305	Involuntary movements	23600	AMACR	ORPHA:79095
HP:0004305	Involuntary movements	23600	AMACR	OMIM:614307
HP:0004305	Involuntary movements	2911	GRM1	OMIM:614831
HP:0004305	Involuntary movements	55157	DARS2	ORPHA:137898
HP:0004305	Involuntary movements	55157	DARS2	OMIM:611105
HP:0004305	Involuntary movements	5173	PDYN	OMIM:610245
HP:0004305	Involuntary movements	6575	SLC20A2	OMIM:213600
HP:0004305	Involuntary movements	5159	PDGFRB	OMIM:213600
HP:0004305	Involuntary movements	5155	PDGFB	OMIM:213600
HP:0004305	Involuntary movements	1788	DNMT3A	ORPHA:276621
HP:0004305	Involuntary movements	2034	EPAS1	ORPHA:276621
HP:0004305	Involuntary movements	29967	LRP12	OMIM:164310
HP:0004305	Involuntary movements	10157	AASS	ORPHA:3124
HP:0004305	Involuntary movements	10157	AASS	ORPHA:2203
HP:0004305	Involuntary movements	7276	TTR	OMIM:105210
HP:0004305	Involuntary movements	10273	STUB1	OMIM:618093
HP:0004305	Involuntary movements	10273	STUB1	OMIM:615768
HP:0004305	Involuntary movements	7274	TTPA	ORPHA:96
HP:0004305	Involuntary movements	7466	WFS1	OMIM:222300
HP:0004305	Involuntary movements	80856	LNPK	OMIM:618090
HP:0004305	Involuntary movements	5230	PGK1	ORPHA:713
HP:0004305	Involuntary movements	112755	STX1B	ORPHA:36387
HP:0004305	Involuntary movements	2563	GABRD	ORPHA:36387
HP:0004305	Involuntary movements	2258	FGF13	ORPHA:36387
HP:0004305	Involuntary movements	84059	ADGRV1	ORPHA:36387
HP:0004305	Involuntary movements	339453	TMEM240	ORPHA:98773
HP:0004305	Involuntary movements	1727	CYB5R3	OMIM:250800
HP:0004305	Involuntary movements	5828	PEX2	OMIM:614867
HP:0004305	Involuntary movements	2073	ERCC5	OMIM:278780
HP:0004305	Involuntary movements	6507	SLC1A3	ORPHA:2131
HP:0004305	Involuntary movements	2259	FGF14	ORPHA:98764
HP:0004305	Involuntary movements	80025	PANK2	OMIM:234200
HP:0004305	Involuntary movements	80025	PANK2	ORPHA:216873
HP:0004305	Involuntary movements	11128	POLR3A	ORPHA:3455
HP:0004305	Involuntary movements	11128	POLR3A	OMIM:607694
HP:0004305	Involuntary movements	5092	PCBD1	OMIM:264070
HP:0004305	Involuntary movements	5092	PCBD1	ORPHA:1578
HP:0004305	Involuntary movements	8813	DPM1	OMIM:608799
HP:0004305	Involuntary movements	9147	NEMF	OMIM:619099
HP:0004305	Involuntary movements	7415	VCP	ORPHA:329478
HP:0004305	Involuntary movements	340024	SLC6A19	ORPHA:2116
HP:0004305	Involuntary movements	57393	CLTRN	ORPHA:2116
HP:0004305	Involuntary movements	10165	SLC25A13	ORPHA:247585
HP:0004305	Involuntary movements	1384	CRAT	OMIM:617917
HP:0004305	Involuntary movements	81846	SBF2	ORPHA:99956
HP:0004305	Involuntary movements	85021	REPS1	OMIM:617916
HP:0004305	Involuntary movements	2703	GJA8	OMIM:612474
HP:0004305	Involuntary movements	2702	GJA5	OMIM:612474
HP:0004305	Involuntary movements	9445	ITM2B	OMIM:176500
HP:0004305	Involuntary movements	57410	SCYL1	OMIM:616719
HP:0004305	Involuntary movements	23064	SETX	OMIM:606002
HP:0004305	Involuntary movements	10535	RNASEH2A	ORPHA:51
HP:0004305	Involuntary movements	84153	RNASEH2C	ORPHA:51
HP:0004305	Involuntary movements	25939	SAMHD1	ORPHA:51
HP:0004305	Involuntary movements	79621	RNASEH2B	ORPHA:51
HP:0004305	Involuntary movements	11277	TREX1	ORPHA:51
HP:0004305	Involuntary movements	100147744	RNU7-1	ORPHA:51
HP:0004305	Involuntary movements	134353	LSM11	ORPHA:51
HP:0004305	Involuntary movements	64135	IFIH1	ORPHA:51
HP:0004305	Involuntary movements	4976	OPA1	OMIM:210000
HP:0004305	Involuntary movements	124997	WDR81	OMIM:610185
HP:0004305	Involuntary movements	7167	TPI1	OMIM:615512
HP:0004305	Involuntary movements	724066	ATXN8	OMIM:608768
HP:0004305	Involuntary movements	22880	MORC2	ORPHA:466768
HP:0004305	Involuntary movements	767	CA8	OMIM:613227
HP:0004305	Involuntary movements	11093	ADAMTS13	OMIM:274150
HP:0004305	Involuntary movements	5053	PAH	ORPHA:79254
HP:0004305	Involuntary movements	6314	ATXN7	OMIM:164500
HP:0004305	Involuntary movements	55737	VPS35	OMIM:614203
HP:0004305	Involuntary movements	64072	CDH23	ORPHA:91347
HP:0004305	Involuntary movements	57545	CC2D2A	ORPHA:1454
HP:0004305	Involuntary movements	7138	TNNT1	OMIM:605355
HP:0004305	Involuntary movements	7138	TNNT1	ORPHA:98902
HP:0004305	Involuntary movements	54658	UGT1A1	ORPHA:79234
HP:0004305	Involuntary movements	79784	MYH14	ORPHA:397744
HP:0004305	Involuntary movements	79784	MYH14	OMIM:614369
HP:0004305	Involuntary movements	6531	SLC6A3	OMIM:613135
HP:0004305	Involuntary movements	6182	MRPL12	OMIM:618951
HP:0004305	Involuntary movements	4780	NFE2L2	OMIM:617744
HP:0004305	Involuntary movements	57570	TRMT5	OMIM:616539
HP:0004305	Involuntary movements	54676	GTPBP2	OMIM:617988
HP:0004305	Involuntary movements	84628	NTNG2	OMIM:618718
HP:0004305	Involuntary movements	440	ASNS	OMIM:615574
HP:0004305	Involuntary movements	119559	SFXN4	OMIM:615578
HP:0004305	Involuntary movements	79583	TMEM231	ORPHA:2754
HP:0004305	Involuntary movements	10210	TOPORS	ORPHA:2754
HP:0004305	Involuntary movements	51259	TMEM216	ORPHA:2754
HP:0004305	Involuntary movements	317662	FAM149B1	ORPHA:2754
HP:0004305	Involuntary movements	374654	KIF7	ORPHA:2754
HP:0004305	Involuntary movements	4747	NEFL	OMIM:607734
HP:0004305	Involuntary movements	55532	SLC30A10	OMIM:613280
HP:0004305	Involuntary movements	84706	GPT2	ORPHA:477673
HP:0004305	Involuntary movements	8913	CACNA1G	OMIM:616795
HP:0004305	Involuntary movements	80169	CTC1	OMIM:612199
HP:0004305	Involuntary movements	367	AR	OMIM:313200
HP:0004305	Involuntary movements	3145	HMBS	ORPHA:79276
HP:0004305	Involuntary movements	5052	PRDX1	OMIM:277400
HP:0004305	Involuntary movements	25974	MMACHC	OMIM:277400
HP:0004305	Involuntary movements	9990	SLC12A6	OMIM:218000
HP:0004305	Involuntary movements	4594	MMUT	ORPHA:289916
HP:0004305	Involuntary movements	27183	VPS4A	OMIM:619273
HP:0004305	Involuntary movements	56896	DPYSL5	OMIM:619435
HP:0004305	Involuntary movements	9698	PUM1	OMIM:617931
HP:0004305	Involuntary movements	9254	CACNA2D2	OMIM:618501
HP:0004305	Involuntary movements	79903	NAA60	OMIM:620786
HP:0004305	Involuntary movements	5309	PITX3	OMIM:610623
HP:0004305	Involuntary movements	8291	DYSF	ORPHA:268
HP:0004305	Involuntary movements	4536	MT-ND2	ORPHA:255210
HP:0004305	Involuntary movements	4537	MT-ND3	ORPHA:255210
HP:0004305	Involuntary movements	4577	MT-TV	ORPHA:255210
HP:0004305	Involuntary movements	9150	CTDP1	OMIM:604168
HP:0004305	Involuntary movements	9150	CTDP1	ORPHA:48431
HP:0004305	Involuntary movements	6535	SLC6A8	ORPHA:52503
HP:0004305	Involuntary movements	54476	RNF216	OMIM:212840
HP:0004305	Involuntary movements	2891	GRIA2	OMIM:618917
HP:0004305	Involuntary movements	3778	KCNMA1	ORPHA:79137
HP:0004305	Involuntary movements	2215	FCGR3B	ORPHA:536
HP:0004305	Involuntary movements	6775	STAT4	ORPHA:536
HP:0004305	Involuntary movements	3684	ITGAM	ORPHA:536
HP:0004305	Involuntary movements	3586	IL10	ORPHA:536
HP:0004305	Involuntary movements	221895	JAZF1	ORPHA:536
HP:0004305	Involuntary movements	7292	TNFSF4	ORPHA:536
HP:0004305	Involuntary movements	640	BLK	ORPHA:536
HP:0004305	Involuntary movements	720	C4A	ORPHA:536
HP:0004305	Involuntary movements	55024	BANK1	ORPHA:536
HP:0004305	Involuntary movements	3500	IGHG1	ORPHA:536
HP:0004305	Involuntary movements	3654	IRAK1	ORPHA:536
HP:0004305	Involuntary movements	26191	PTPN22	ORPHA:536
HP:0004305	Involuntary movements	1380	CR2	ORPHA:536
HP:0004305	Involuntary movements	5133	PDCD1	ORPHA:536
HP:0004305	Involuntary movements	2113	ETS1	ORPHA:536
HP:0004305	Involuntary movements	2213	FCGR2B	ORPHA:536
HP:0004305	Involuntary movements	10318	TNIP1	ORPHA:536
HP:0004305	Involuntary movements	7332	UBE2L3	ORPHA:536
HP:0004305	Involuntary movements	79932	KIAA0319L	ORPHA:536
HP:0004305	Involuntary movements	3663	IRF5	ORPHA:536
HP:0004305	Involuntary movements	3123	HLA-DRB1	ORPHA:536
HP:0004305	Involuntary movements	721	C4B	ORPHA:536
HP:0004305	Involuntary movements	1773	DNASE1	ORPHA:536
HP:0004305	Involuntary movements	51284	TLR7	ORPHA:536
HP:0004305	Involuntary movements	51284	TLR7	OMIM:301080
HP:0004305	Involuntary movements	6696	SPP1	ORPHA:536
HP:0004305	Involuntary movements	54899	PXK	ORPHA:536
HP:0004305	Involuntary movements	7128	TNFAIP3	ORPHA:536
HP:0004305	Involuntary movements	7128	TNFAIP3	OMIM:616744
HP:0004305	Involuntary movements	410	ARSA	ORPHA:309271
HP:0004305	Involuntary movements	410	ARSA	OMIM:250100
HP:0004305	Involuntary movements	23221	RHOBTB2	OMIM:618004
HP:0004305	Involuntary movements	7343	UBTF	OMIM:617672
HP:0004305	Involuntary movements	7343	UBTF	ORPHA:500180
HP:0004305	Involuntary movements	6844	VAMP2	OMIM:618760
HP:0004305	Involuntary movements	80746	TSEN2	OMIM:612389
HP:0004305	Involuntary movements	3054	HCFC1	OMIM:309541
HP:0004305	Involuntary movements	9675	TTI1	OMIM:620445
HP:0004305	Involuntary movements	538	ATP7A	ORPHA:565
HP:0004305	Involuntary movements	79042	TSEN34	OMIM:612390
HP:0004305	Involuntary movements	39	ACAT2	OMIM:614055
HP:0004305	Involuntary movements	2395	FXN	ORPHA:95
HP:0004305	Involuntary movements	54	ACP5	ORPHA:1855
HP:0004305	Involuntary movements	57282	SLC4A10	OMIM:620746
HP:0004305	Involuntary movements	51091	SEPSECS	OMIM:613811
HP:0004305	Involuntary movements	80704	SLC19A3	OMIM:607483
HP:0004305	Involuntary movements	8405	SPOP	OMIM:618829
HP:0004305	Involuntary movements	5700	PSMC1	OMIM:620071
HP:0004305	Involuntary movements	2521	FUS	ORPHA:300605
HP:0004305	Involuntary movements	80208	SPG11	ORPHA:300605
HP:0004305	Involuntary movements	10280	SIGMAR1	ORPHA:300605
HP:0004305	Involuntary movements	10558	SPTLC1	ORPHA:300605
HP:0004305	Involuntary movements	57679	ALS2	ORPHA:300605
HP:0004305	Involuntary movements	7504	XK	OMIM:300842
HP:0004305	Involuntary movements	2760	GM2A	ORPHA:309246
HP:0004305	Involuntary movements	2760	GM2A	OMIM:272750
HP:0004305	Involuntary movements	7358	UGDH	OMIM:618792
HP:0004305	Involuntary movements	2893	GRIA4	OMIM:617864
HP:0004305	Involuntary movements	55164	SHQ1	OMIM:619922
HP:0004305	Involuntary movements	57462	MYORG	OMIM:618317
HP:0004305	Involuntary movements	6310	ATXN1	ORPHA:98755
HP:0004305	Involuntary movements	6310	ATXN1	OMIM:164400
HP:0004305	Involuntary movements	84833	ATP5MK	OMIM:618683
HP:0004305	Involuntary movements	29960	MRM2	OMIM:618567
HP:0004305	Involuntary movements	3658	IREB2	OMIM:618451
HP:0004305	Involuntary movements	11338	U2AF2	OMIM:620535
HP:0004305	Involuntary movements	9524	TECR	OMIM:614020
HP:0004305	Involuntary movements	775	CACNA1C	OMIM:620029
HP:0004305	Involuntary movements	5457	POU4F1	ORPHA:314647
HP:0004305	Involuntary movements	5457	POU4F1	OMIM:619352
HP:0004305	Involuntary movements	85300	ATCAY	ORPHA:94122
HP:0004305	Involuntary movements	85300	ATCAY	OMIM:601238
HP:0004305	Involuntary movements	221496	LEMD2	OMIM:619322
HP:0004305	Involuntary movements	5917	RARS1	ORPHA:438114
HP:0004305	Involuntary movements	5917	RARS1	OMIM:616140
HP:0004305	Involuntary movements	10908	PNPLA6	OMIM:275400
HP:0004305	Involuntary movements	10908	PNPLA6	OMIM:215470
HP:0004305	Involuntary movements	7175	TPR	OMIM:620393
HP:0004305	Involuntary movements	343641	TGM6	OMIM:613908
HP:0004305	Involuntary movements	343641	TGM6	ORPHA:276193
HP:0004305	Involuntary movements	7436	VLDLR	OMIM:224050
HP:0004305	Involuntary movements	267010	RNU12	OMIM:620208
HP:0004305	Involuntary movements	267010	RNU12	ORPHA:512260
HP:0004305	Involuntary movements	26278	SACS	ORPHA:98
HP:0004305	Involuntary movements	26090	ABHD12	OMIM:612674
HP:0004305	Involuntary movements	84668	HYCC1	OMIM:610532
HP:0004305	Involuntary movements	27010	TPK1	OMIM:614458
HP:0004305	Involuntary movements	50801	KCNK4	OMIM:618381
HP:0004305	Involuntary movements	55280	CWF19L1	OMIM:616127
HP:0004305	Involuntary movements	55280	CWF19L1	ORPHA:453521
HP:0004305	Involuntary movements	4983	OPHN1	ORPHA:137831
HP:0004305	Involuntary movements	54499	TMCO1	OMIM:213980
HP:0004305	Involuntary movements	5293	PIK3CD	ORPHA:221139
HP:0004305	Involuntary movements	90417	KNSTRN	ORPHA:221139
HP:0004305	Involuntary movements	5728	PTEN	OMIM:158350
HP:0004305	Involuntary movements	54870	QRICH1	OMIM:617982
HP:0004305	Involuntary movements	5192	PEX10	OMIM:614871
HP:0004305	Involuntary movements	81562	LMAN2L	OMIM:617863
HP:0004305	Involuntary movements	3295	HSD17B4	OMIM:233400
HP:0004305	Involuntary movements	5981	RFC1	ORPHA:504476
HP:0004305	Involuntary movements	2937	GSS	OMIM:266130
HP:0004305	Involuntary movements	9725	TMEM63A	OMIM:618688
HP:0004305	Involuntary movements	404672	GTF2H5	ORPHA:33364
HP:0004305	Involuntary movements	7737	RNF113A	ORPHA:33364
HP:0004305	Involuntary movements	136647	MPLKIP	ORPHA:33364
HP:0004305	Involuntary movements	6897	TARS1	ORPHA:33364
HP:0004305	Involuntary movements	2071	ERCC3	ORPHA:33364
HP:0004305	Involuntary movements	2961	GTF2E2	ORPHA:33364
HP:0004305	Involuntary movements	200403	VWA3B	OMIM:616948
HP:0004305	Involuntary movements	5091	PC	OMIM:266150
HP:0004305	Involuntary movements	9897	WASHC5	ORPHA:100989
HP:0004305	Involuntary movements	9197	SLC33A1	ORPHA:171863
HP:0004305	Involuntary movements	9853	RUSC2	OMIM:617773
HP:0004305	Involuntary movements	51501	HIKESHI	OMIM:616881
HP:0004305	Involuntary movements	6711	SPTBN1	OMIM:619475
HP:0004305	Involuntary movements	23446	SLC44A1	OMIM:618868
HP:0004305	Involuntary movements	22948	CCT5	ORPHA:139578
HP:0004305	Involuntary movements	22948	CCT5	OMIM:256840
HP:0004305	Involuntary movements	92609	TIMM50	OMIM:617698
HP:0004305	Involuntary movements	92609	TIMM50	ORPHA:505216
HP:0004305	Involuntary movements	253738	EBF3	ORPHA:96148
HP:0004305	Involuntary movements	10613	ERLIN1	ORPHA:401785
HP:0004305	Involuntary movements	23503	ZFYVE26	OMIM:270700
HP:0004305	Involuntary movements	29925	GMPPB	ORPHA:370959
HP:0004305	Involuntary movements	79147	FKRP	ORPHA:370959
HP:0004305	Involuntary movements	29954	POMT2	ORPHA:370959
HP:0004305	Involuntary movements	84197	POMK	ORPHA:370959
HP:0004305	Involuntary movements	10585	POMT1	ORPHA:370959
HP:0004305	Involuntary movements	3785	KCNQ2	ORPHA:1949
HP:0004305	Involuntary movements	3786	KCNQ3	ORPHA:1949
HP:0004305	Involuntary movements	6567	SLC16A2	OMIM:300523
HP:0004305	Involuntary movements	6536	SLC6A9	OMIM:617301
HP:0004305	Involuntary movements	2137	EXTL3	OMIM:617425
HP:0004305	Involuntary movements	271	AMPD2	OMIM:615686
HP:0004305	Involuntary movements	271	AMPD2	OMIM:615809
HP:0004305	Involuntary movements	9409	PEX16	OMIM:614877
HP:0004305	Involuntary movements	9440	MED17	OMIM:613668
HP:0004305	Involuntary movements	25782	RAB3GAP2	OMIM:212720
HP:0004305	Involuntary movements	4952	OCRL	ORPHA:534
HP:0004305	Involuntary movements	10166	SLC25A15	ORPHA:415
HP:0004305	Involuntary movements	10166	SLC25A15	OMIM:238970
HP:0004305	Involuntary movements	9101	USP8	ORPHA:401795
HP:0004305	Involuntary movements	11117	EMILIN1	OMIM:620080
HP:0004305	Involuntary movements	137492	VPS37A	ORPHA:319199
HP:0004305	Involuntary movements	137492	VPS37A	OMIM:614898
HP:0004305	Involuntary movements	819	CAMLG	OMIM:620201
HP:0004305	Involuntary movements	4693	NDP	ORPHA:649
HP:0004305	Involuntary movements	6509	SLC1A4	ORPHA:447997
HP:0004305	Involuntary movements	2801	GOLGA2	OMIM:620240
HP:0004305	Involuntary movements	28962	OSTM1	OMIM:259720
HP:0004305	Involuntary movements	6253	RTN2	ORPHA:100993
HP:0004305	Involuntary movements	51271	UBAP1	ORPHA:100993
HP:0004305	Involuntary movements	857	CAV1	OMIM:606721
HP:0004305	Involuntary movements	3839	KPNA3	ORPHA:171612
HP:0004305	Involuntary movements	23028	KDM1A	ORPHA:477993
HP:0004305	Involuntary movements	58497	PRUNE1	OMIM:617481
HP:0004305	Involuntary movements	58497	PRUNE1	ORPHA:544469
HP:0004305	Involuntary movements	133686	NADK2	OMIM:616034
HP:0004305	Involuntary movements	246243	RNASEH1	OMIM:616479
HP:0004305	Involuntary movements	89874	SLC25A21	OMIM:618811
HP:0004305	Involuntary movements	26834	RNU4-2	OMIM:620851
HP:0004305	Involuntary movements	3615	IMPDH2	ORPHA:98808
HP:0004305	Involuntary movements	4720	NDUFS2	ORPHA:104
HP:0004305	Involuntary movements	4519	MT-CYB	ORPHA:104
HP:0004305	Involuntary movements	4519	MT-CYB	OMIM:535000
HP:0004305	Involuntary movements	4539	MT-ND4L	ORPHA:104
HP:0004305	Involuntary movements	4539	MT-ND4L	OMIM:535000
HP:0004305	Involuntary movements	26011	TENM4	OMIM:616736
HP:0004305	Involuntary movements	4604	MYBPC1	OMIM:618524
HP:0004305	Involuntary movements	10397	NDRG1	ORPHA:99950
HP:0004305	Involuntary movements	51308	REEP2	ORPHA:401849
HP:0004305	Involuntary movements	776	CACNA1D	OMIM:615474
HP:0004305	Involuntary movements	776	CACNA1D	ORPHA:369929
HP:0004305	Involuntary movements	51728	POLR3K	OMIM:619310
HP:0004305	Involuntary movements	27089	UQCRQ	OMIM:615159
HP:0004305	Involuntary movements	2495	FTH1	OMIM:620669
HP:0004305	Involuntary movements	80036	TRPM3	OMIM:620224
HP:0004305	Involuntary movements	1528	CYB5A	ORPHA:621
HP:0004305	Involuntary movements	6609	SMPD1	OMIM:257200
HP:0004305	Involuntary movements	26503	SLC17A5	OMIM:604369
HP:0004305	Involuntary movements	10730	YME1L1	OMIM:617302
HP:0004305	Involuntary movements	50	ACO2	OMIM:614559
HP:0004305	Involuntary movements	5831	PYCR1	OMIM:614438
HP:0004305	Involuntary movements	54820	NDE1	OMIM:605013
HP:0004305	Involuntary movements	51324	SPG21	OMIM:248900
HP:0004305	Involuntary movements	29978	UBQLN2	OMIM:300857
HP:0004305	Involuntary movements	2058	EPRS1	OMIM:617951
HP:0004305	Involuntary movements	549	AUH	OMIM:250950
HP:0004305	Involuntary movements	8803	SUCLA2	OMIM:612073
HP:0004305	Involuntary movements	6833	ABCC8	OMIM:618857
HP:0004305	Involuntary movements	8635	RNASET2	OMIM:612951
HP:0004305	Involuntary movements	113235	SLC46A1	OMIM:229050
HP:0004305	Involuntary movements	26227	PHGDH	ORPHA:79351
HP:0004305	Involuntary movements	8241	RBM10	OMIM:311900
HP:0004305	Involuntary movements	26058	GIGYF2	OMIM:607688
HP:0004305	Involuntary movements	26058	GIGYF2	ORPHA:411602
HP:0004305	Involuntary movements	11253	MAN1B1	ORPHA:397941
HP:0004305	Involuntary movements	10159	ATP6AP2	OMIM:300911
HP:0004305	Involuntary movements	10159	ATP6AP2	ORPHA:363654
HP:0004305	Involuntary movements	7384	UQCRC1	OMIM:619279
HP:0004305	Involuntary movements	391356	PTRHD1	OMIM:620747
HP:0004305	Involuntary movements	1786	DNMT1	ORPHA:314404
HP:0004305	Involuntary movements	23317	DNAJC13	ORPHA:411602
HP:0004305	Involuntary movements	1981	EIF4G1	ORPHA:411602
HP:0004305	Involuntary movements	1981	EIF4G1	OMIM:614251
HP:0004305	Involuntary movements	116442	RAB39B	OMIM:311510
HP:0004305	Involuntary movements	5524	PTPA	OMIM:620482
HP:0004305	Involuntary movements	2332	FMR1	OMIM:300623
HP:0004305	Involuntary movements	51142	CHCHD2	OMIM:616710
HP:0004305	Involuntary movements	2592	GALT	ORPHA:79239
HP:0004305	Involuntary movements	131669	UROC1	OMIM:276880
HP:0004305	Involuntary movements	131669	UROC1	ORPHA:210128
HP:0004305	Involuntary movements	131118	DNAJC19	ORPHA:66634
HP:0004305	Involuntary movements	4359	MPZ	OMIM:180800
HP:0004305	Involuntary movements	5521	PPP2R2B	OMIM:604326
HP:0004305	Involuntary movements	5521	PPP2R2B	ORPHA:98762
HP:0004305	Involuntary movements	492	ATP2B3	OMIM:302500
HP:0004305	Involuntary movements	492	ATP2B3	ORPHA:314978
HP:0004305	Involuntary movements	3766	KCNJ10	ORPHA:199343
HP:0004305	Involuntary movements	6548	SLC9A1	OMIM:616291
HP:0004305	Involuntary movements	7084	TK2	ORPHA:254886
HP:0004305	Involuntary movements	1814	DRD3	OMIM:190300
HP:0004305	Involuntary movements	1293	COL6A3	OMIM:616411
HP:0004305	Involuntary movements	1293	COL6A3	ORPHA:464440
HP:0004305	Involuntary movements	5190	PEX6	ORPHA:95433
HP:0004305	Involuntary movements	6342	SCP2	OMIM:613724
HP:0004305	Involuntary movements	5165	PDK3	OMIM:300905
HP:0004305	Involuntary movements	5165	PDK3	ORPHA:352675
HP:0004305	Involuntary movements	7253	TSHR	ORPHA:99819
HP:0004305	Involuntary movements	7253	TSHR	ORPHA:424
HP:0004305	Involuntary movements	4803	NGF	OMIM:608654
HP:0004305	Involuntary movements	51663	ZFR	ORPHA:401840
HP:0004305	Involuntary movements	55023	PHIP	ORPHA:589905
HP:0004305	Involuntary movements	5375	PMP2	OMIM:618279
HP:0004305	Involuntary movements	122553	TRAPPC6B	OMIM:617862
HP:0004305	Involuntary movements	10058	ABCB6	OMIM:609153
HP:0004305	Involuntary movements	23261	CAMTA1	OMIM:614756
HP:0004305	Involuntary movements	57505	AARS2	OMIM:615889
HP:0004305	Involuntary movements	2645	GCK	ORPHA:79299
HP:0004305	Involuntary movements	1410	CRYAB	OMIM:608810
HP:0004305	Involuntary movements	1938	EEF2	ORPHA:101112
HP:0004305	Involuntary movements	5393	EXOSC9	OMIM:618065
HP:0004305	Involuntary movements	23345	SYNE1	ORPHA:88644
HP:0004305	Involuntary movements	4593	MUSK	OMIM:616325
HP:0004305	Involuntary movements	3315	HSPB1	OMIM:606595
HP:0004305	Involuntary movements	23435	TARDBP	ORPHA:275872
HP:0004305	Involuntary movements	23435	TARDBP	ORPHA:803
HP:0004305	Involuntary movements	29110	TBK1	ORPHA:275872
HP:0004305	Involuntary movements	29110	TBK1	ORPHA:803
HP:0004305	Involuntary movements	29110	TBK1	OMIM:616439
HP:0004305	Involuntary movements	7879	RAB7A	OMIM:600882
HP:0004305	Involuntary movements	6647	SOD1	OMIM:618598
HP:0004305	Involuntary movements	6647	SOD1	ORPHA:803
HP:0004305	Involuntary movements	6647	SOD1	OMIM:105400
HP:0004305	Involuntary movements	10528	NOP56	OMIM:614153
HP:0004305	Involuntary movements	10528	NOP56	ORPHA:276198
HP:0004305	Involuntary movements	90678	LRSAM1	OMIM:614436
HP:0004305	Involuntary movements	7443	VRK1	OMIM:607596
HP:0004305	Involuntary movements	6785	ELOVL4	OMIM:133190
HP:0004305	Involuntary movements	3178	HNRNPA1	ORPHA:52430
HP:0004305	Involuntary movements	3178	HNRNPA1	ORPHA:803
HP:0004305	Involuntary movements	3181	HNRNPA2B1	ORPHA:52430
HP:0004305	Involuntary movements	57104	PNPLA2	OMIM:610717
HP:0004305	Involuntary movements	57104	PNPLA2	ORPHA:98908
HP:0004305	Involuntary movements	487	ATP2A1	OMIM:601003
HP:0004305	Involuntary movements	6904	TBCD	ORPHA:496641
HP:0004305	Involuntary movements	55129	ANO10	ORPHA:284289
HP:0004305	Involuntary movements	55129	ANO10	OMIM:613728
HP:0004305	Involuntary movements	3094	HINT1	OMIM:137200
HP:0004305	Involuntary movements	23299	BICD2	OMIM:615290
HP:0004305	Involuntary movements	2717	GLA	OMIM:301500
HP:0004305	Involuntary movements	81545	FBXO38	OMIM:615575
HP:0004305	Involuntary movements	4358	MPV17	OMIM:256810
HP:0004305	Involuntary movements	10133	OPTN	OMIM:613435
HP:0004305	Involuntary movements	10133	OPTN	ORPHA:803
HP:0004305	Involuntary movements	311	ANXA11	OMIM:619733
HP:0004305	Involuntary movements	311	ANXA11	ORPHA:803
HP:0004305	Involuntary movements	55681	SCYL2	ORPHA:1143
HP:0004305	Involuntary movements	84570	COL25A1	ORPHA:1143
HP:0004305	Involuntary movements	57222	ERGIC1	ORPHA:1143
HP:0004305	Involuntary movements	6261	RYR1	ORPHA:324581
HP:0004305	Involuntary movements	10229	COQ7	OMIM:620402
HP:0004305	Involuntary movements	4141	MARS1	OMIM:620323
HP:0004305	Involuntary movements	8148	TAF15	ORPHA:803
HP:0004305	Involuntary movements	5445	PON2	ORPHA:803
HP:0004305	Involuntary movements	5630	PRPH	ORPHA:803
HP:0004305	Involuntary movements	5630	PRPH	OMIM:105400
HP:0004305	Involuntary movements	55830	GLT8D1	ORPHA:803
HP:0004305	Involuntary movements	755	CFAP410	ORPHA:803
HP:0004305	Involuntary movements	10891	PPARGC1A	ORPHA:803
HP:0004305	Involuntary movements	9896	FIG4	ORPHA:803
HP:0004305	Involuntary movements	5444	PON1	ORPHA:803
HP:0004305	Involuntary movements	5446	PON3	ORPHA:803
HP:0004305	Involuntary movements	4744	NEFH	ORPHA:803
HP:0004305	Involuntary movements	4744	NEFH	OMIM:105400
HP:0004305	Involuntary movements	5216	PFN1	ORPHA:803
HP:0004305	Involuntary movements	5216	PFN1	OMIM:614808
HP:0004305	Involuntary movements	9782	MATR3	ORPHA:803
HP:0004305	Involuntary movements	283	ANG	ORPHA:803
HP:0004305	Involuntary movements	2733	GLE1	ORPHA:803
HP:0004305	Involuntary movements	4750	NEK1	ORPHA:803
HP:0004305	Involuntary movements	1610	DAO	ORPHA:803
HP:0004305	Involuntary movements	2066	ERBB4	ORPHA:803
HP:0004305	Involuntary movements	23025	UNC13A	ORPHA:803
HP:0004305	Involuntary movements	899	CCNF	ORPHA:803
HP:0004305	Involuntary movements	899	CCNF	OMIM:619141
HP:0004305	Involuntary movements	6329	SCN4A	ORPHA:682
HP:0004305	Involuntary movements	4771	NF2	ORPHA:93921
HP:0004305	Involuntary movements	6598	SMARCB1	ORPHA:93921
HP:0004305	Involuntary movements	51004	COQ6	ORPHA:93921
HP:0004305	Involuntary movements	8216	LZTR1	ORPHA:93921
HP:0004305	Involuntary movements	2896	GRN	ORPHA:275864
HP:0004305	Involuntary movements	54664	TMEM106B	ORPHA:275864
HP:0004305	Involuntary movements	1756	DMD	ORPHA:206546
HP:0004305	Involuntary movements	3735	KARS1	ORPHA:3240
HP:0004305	Involuntary movements	84504	NKX6-2	ORPHA:527497
HP:0004305	Involuntary movements	84504	NKX6-2	OMIM:617560
HP:0004305	Involuntary movements	284217	LAMA1	ORPHA:370022
HP:0004305	Involuntary movements	25828	TXN2	ORPHA:478029
HP:0004305	Involuntary movements	4337	MOCS1	OMIM:252150
HP:0004305	Involuntary movements	4338	MOCS2	OMIM:252160
HP:0004305	Involuntary movements	8675	STX16	ORPHA:94089
HP:0004305	Involuntary movements	9131	AIFM1	ORPHA:238329
HP:0004305	Involuntary movements	9131	AIFM1	OMIM:300816
HP:0004305	Involuntary movements	3064	HTT	ORPHA:399
HP:0004305	Involuntary movements	6515	SLC2A3	ORPHA:399
HP:0004305	Involuntary movements	6611	SMS	ORPHA:3063
HP:0004305	Involuntary movements	10522	DEAF1	OMIM:617171
HP:0004305	Involuntary movements	10522	DEAF1	ORPHA:468620
HP:0004305	Involuntary movements	55768	NGLY1	OMIM:615273
HP:0004305	Involuntary movements	2775	GNAO1	OMIM:617493
HP:0004305	Involuntary movements	3736	KCNA1	ORPHA:98809
HP:0004305	Involuntary movements	112476	PRRT2	ORPHA:98809
HP:0004305	Involuntary movements	112476	PRRT2	ORPHA:31709
HP:0004305	Involuntary movements	112476	PRRT2	ORPHA:569
HP:0004305	Involuntary movements	112476	PRRT2	ORPHA:98811
HP:0004305	Involuntary movements	112476	PRRT2	ORPHA:98810
HP:0004305	Involuntary movements	6804	STX1A	ORPHA:904
HP:0004305	Involuntary movements	7461	CLIP2	ORPHA:904
HP:0004305	Involuntary movements	84277	DNAJC30	ORPHA:904
HP:0004305	Involuntary movements	8468	FKBP6	ORPHA:904
HP:0004305	Involuntary movements	5982	RFC2	ORPHA:904
HP:0004305	Involuntary movements	2969	GTF2I	ORPHA:904
HP:0004305	Involuntary movements	3984	LIMK1	ORPHA:904
HP:0004305	Involuntary movements	9569	GTF2IRD1	ORPHA:904
HP:0004305	Involuntary movements	155382	VPS37D	ORPHA:904
HP:0004305	Involuntary movements	155368	METTL27	ORPHA:904
HP:0004305	Involuntary movements	114049	BUD23	ORPHA:904
HP:0004305	Involuntary movements	7458	EIF4H	ORPHA:904
HP:0004305	Involuntary movements	84163	GTF2IRD2	ORPHA:904
HP:0004305	Involuntary movements	26608	TBL2	ORPHA:904
HP:0004305	Involuntary movements	653361	NCF1	ORPHA:904
HP:0004305	Involuntary movements	135886	TMEM270	ORPHA:904
HP:0004305	Involuntary movements	9031	BAZ1B	ORPHA:904
HP:0004305	Involuntary movements	2006	ELN	ORPHA:904
HP:0004305	Involuntary movements	10382	TUBB4A	ORPHA:98805
HP:0004305	Involuntary movements	93210	PGAP3	OMIM:615716
HP:0004305	Involuntary movements	3208	HPCA	ORPHA:99657
HP:0004305	Involuntary movements	1822	ATN1	ORPHA:101
HP:0004305	Involuntary movements	111	ADCY5	OMIM:606703
HP:0004305	Involuntary movements	9829	DNAJC6	ORPHA:391411
HP:0004305	Involuntary movements	5420	PODXL	ORPHA:391411
HP:0004305	Involuntary movements	8867	SYNJ1	ORPHA:391411
HP:0004305	Involuntary movements	8867	SYNJ1	OMIM:615530
HP:0004305	Involuntary movements	8867	SYNJ1	ORPHA:442835
HP:0004305	Involuntary movements	6792	CDKL5	ORPHA:3095
HP:0004305	Involuntary movements	22854	NTNG1	ORPHA:3095
HP:0004305	Involuntary movements	9568	GABBR2	ORPHA:3095
HP:0004305	Involuntary movements	9568	GABBR2	ORPHA:442835
HP:0004305	Involuntary movements	4204	MECP2	ORPHA:3095
HP:0004305	Involuntary movements	4204	MECP2	ORPHA:209370
HP:0004305	Involuntary movements	8243	SMC1A	ORPHA:3095
HP:0004305	Involuntary movements	5138	PDE2A	ORPHA:31709
HP:0004305	Involuntary movements	6334	SCN8A	ORPHA:31709
HP:0004305	Involuntary movements	6334	SCN8A	ORPHA:442835
HP:0004305	Involuntary movements	5621	PRNP	ORPHA:157941
HP:0004305	Involuntary movements	79587	CARS2	ORPHA:477774
HP:0004305	Involuntary movements	84340	GFM2	OMIM:618397
HP:0004305	Involuntary movements	84340	GFM2	ORPHA:565624
HP:0004305	Involuntary movements	9213	XPR1	OMIM:616413
HP:0004305	Involuntary movements	2902	GRIN1	OMIM:617820
HP:0004305	Involuntary movements	1356	CP	ORPHA:48818
HP:0004305	Involuntary movements	54112	GPR88	OMIM:616939
HP:0004305	Involuntary movements	6908	TBP	ORPHA:98759
HP:0004305	Involuntary movements	56652	TWNK	OMIM:271245
HP:0004305	Involuntary movements	1759	DNM1	OMIM:620352
HP:0004305	Involuntary movements	1759	DNM1	ORPHA:442835
HP:0004305	Involuntary movements	23499	MACF1	ORPHA:572013
HP:0004305	Involuntary movements	23499	MACF1	OMIM:618325
HP:0004305	Involuntary movements	387119	CEP85L	ORPHA:572013
HP:0004305	Involuntary movements	2898	GRIK2	OMIM:611092
HP:0004305	Involuntary movements	8575	PRKRA	OMIM:612067
HP:0004305	Involuntary movements	5119	CHMP1A	OMIM:614961
HP:0004305	Involuntary movements	815	CAMK2A	OMIM:617798
HP:0004305	Involuntary movements	256472	TMEM151A	OMIM:620245
HP:0004305	Involuntary movements	7080	NKX2-1	ORPHA:209905
HP:0004305	Involuntary movements	2778	GNAS	ORPHA:79443
HP:0004305	Involuntary movements	128989	TANGO2	ORPHA:480864
HP:0004305	Involuntary movements	773	CACNA1A	ORPHA:569
HP:0004305	Involuntary movements	773	CACNA1A	ORPHA:442835
HP:0004305	Involuntary movements	6323	SCN1A	ORPHA:569
HP:0004305	Involuntary movements	6323	SCN1A	ORPHA:442835
HP:0004305	Involuntary movements	477	ATP1A2	ORPHA:569
HP:0004305	Involuntary movements	477	ATP1A2	ORPHA:442835
HP:0004305	Involuntary movements	1137	CHRNA4	ORPHA:98784
HP:0004305	Involuntary movements	1135	CHRNA2	ORPHA:98784
HP:0004305	Involuntary movements	57010	CABP4	ORPHA:98784
HP:0004305	Involuntary movements	1141	CHRNB2	ORPHA:98784
HP:0004305	Involuntary movements	57582	KCNT1	ORPHA:98784
HP:0004305	Involuntary movements	1392	CRH	ORPHA:98784
HP:0004305	Involuntary movements	9681	DEPDC5	ORPHA:98784
HP:0004305	Involuntary movements	10367	MICU1	ORPHA:401768
HP:0004305	Involuntary movements	51102	MECR	OMIM:617282
HP:0004305	Involuntary movements	114034	TOE1	ORPHA:284339
HP:0004305	Involuntary movements	9562	MINPP1	ORPHA:284339
HP:0004305	Involuntary movements	2512	FTL	ORPHA:157846
HP:0004305	Involuntary movements	3980	LIG3	OMIM:619780
HP:0004305	Involuntary movements	7543	ZFX	OMIM:301118
HP:0004305	Involuntary movements	23230	VPS13A	ORPHA:2388
HP:0004305	Involuntary movements	22907	DHX30	OMIM:617804
HP:0004305	Involuntary movements	3737	KCNA2	ORPHA:442835
HP:0004305	Involuntary movements	8120	AP3B2	ORPHA:442835
HP:0004305	Involuntary movements	523	ATP6V1A	ORPHA:442835
HP:0004305	Involuntary movements	10991	SLC38A3	ORPHA:442835
HP:0004305	Involuntary movements	51343	FZR1	ORPHA:442835
HP:0004305	Involuntary movements	3747	KCNC2	ORPHA:442835
HP:0004305	Involuntary movements	1917	EEF1A2	ORPHA:442835
HP:0004305	Involuntary movements	23219	FBXO28	ORPHA:442835
HP:0004305	Involuntary movements	2561	GABRB2	ORPHA:442835
HP:0004305	Involuntary movements	8831	SYNGAP1	ORPHA:442835
HP:0004305	Involuntary movements	2558	GABRA5	ORPHA:442835
HP:0004305	Involuntary movements	2906	GRIN2D	ORPHA:442835
HP:0004305	Involuntary movements	116150	NUS1	ORPHA:442835
HP:0004305	Involuntary movements	1213	CLTC	ORPHA:442835
HP:0004305	Involuntary movements	51741	WWOX	ORPHA:442835
HP:0004305	Involuntary movements	23334	SZT2	ORPHA:442835
HP:0004305	Involuntary movements	348980	HCN1	ORPHA:442835
HP:0004305	Involuntary movements	25977	NECAP1	ORPHA:442835
HP:0004305	Involuntary movements	23241	PACS2	ORPHA:442835
HP:0004305	Involuntary movements	16	AARS1	ORPHA:442835
HP:0004305	Involuntary movements	2555	GABRA2	ORPHA:442835
HP:0004305	Involuntary movements	55152	DALRD3	ORPHA:442835
HP:0004305	Involuntary movements	26999	CYFIP2	ORPHA:442835
HP:0004305	Involuntary movements	4915	NTRK2	ORPHA:442835
HP:0004305	Involuntary movements	25973	PARS2	ORPHA:442835
HP:0004305	Involuntary movements	23097	CDK19	ORPHA:442835
HP:0004305	Involuntary movements	2257	FGF12	ORPHA:442835
HP:0004305	Involuntary movements	5530	PPP3CA	ORPHA:442835
HP:0004305	Involuntary movements	478	ATP1A3	ORPHA:442835
HP:0004305	Involuntary movements	22906	TRAK1	ORPHA:442835
HP:0004305	Involuntary movements	2566	GABRG2	ORPHA:442835
HP:0004305	Involuntary movements	7532	YWHAG	ORPHA:442835
HP:0004305	Involuntary movements	79876	UBA5	ORPHA:442835
HP:0004305	Involuntary movements	6328	SCN3A	ORPHA:442835
HP:0004305	Involuntary movements	781	CACNA2D1	ORPHA:442835
HP:0004305	Involuntary movements	10659	CELF2	ORPHA:442835
HP:0004305	Involuntary movements	774	CACNA1B	ORPHA:442835
HP:0004305	Involuntary movements	51412	ACTL6B	ORPHA:442835
HP:0004305	Involuntary movements	2290	FOXG1	ORPHA:442835
HP:0004305	Involuntary movements	6506	SLC1A2	ORPHA:442835
HP:0004305	Involuntary movements	3745	KCNB1	ORPHA:442835
HP:0004305	Involuntary movements	284111	SLC13A5	ORPHA:442835
HP:0004305	Involuntary movements	284111	SLC13A5	OMIM:615905
HP:0004305	Involuntary movements	22866	CNKSR2	ORPHA:442835
HP:0004305	Involuntary movements	79947	DHDDS	ORPHA:442835
HP:0004305	Involuntary movements	6857	SYT1	OMIM:618218
HP:0004305	Involuntary movements	4137	MAPT	ORPHA:240103
HP:0004305	Involuntary movements	6513	SLC2A1	ORPHA:98811
HP:0004305	Involuntary movements	57338	JPH3	ORPHA:98934
HP:0004305	Involuntary movements	25953	PNKD	ORPHA:98810
HP:0004305	Involuntary movements	1181	CLCN2	ORPHA:307
HP:0004305	Involuntary movements	22858	CILK1	ORPHA:307
HP:0004305	Involuntary movements	8629	JRK	ORPHA:307
HP:0004305	Involuntary movements	25970	SH2B1	ORPHA:261197
HP:0004305	Involuntary movements	25814	ATXN10	OMIM:603516
HP:0004305	Involuntary movements	1593	CYP27A1	ORPHA:909
HP:0004305	Involuntary movements	2670	GFAP	OMIM:203450
HP:0004305	Involuntary movements	2670	GFAP	ORPHA:363717
HP:0004305	Involuntary movements	2670	GFAP	ORPHA:363722
HP:0004305	Involuntary movements	8314	BAP1	ORPHA:2495
HP:0004305	Involuntary movements	84231	TRAF7	ORPHA:2495
HP:0004305	Involuntary movements	6608	SMO	ORPHA:2495
HP:0004305	Involuntary movements	207	AKT1	ORPHA:2495
HP:0004305	Involuntary movements	7015	TERT	ORPHA:2495
HP:0004305	Involuntary movements	6605	SMARCE1	ORPHA:2495
HP:0004305	Involuntary movements	11160	ERLIN2	ORPHA:280384
HP:0004305	Involuntary movements	11160	ERLIN2	ORPHA:209951
HP:0004305	Involuntary movements	11160	ERLIN2	OMIM:620512
HP:0004305	Involuntary movements	11160	ERLIN2	OMIM:611225
HP:0004305	Involuntary movements	85465	SELENOI	ORPHA:506353
HP:0004305	Involuntary movements	85465	SELENOI	OMIM:618768
HP:0004305	Involuntary movements	51062	ATL1	ORPHA:100984
HP:0004305	Involuntary movements	23111	SPART	OMIM:275900
HP:0004305	Involuntary movements	23111	SPART	ORPHA:101000
HP:0004305	Involuntary movements	4728	NDUFS8	OMIM:618222
HP:0004305	Involuntary movements	55697	VAC14	OMIM:617054
HP:0004305	Involuntary movements	56006	SMG9	OMIM:619995
HP:0004305	Involuntary movements	6683	SPAST	ORPHA:100985
HP:0004305	Involuntary movements	51604	PIGT	OMIM:615398
HP:0004305	Involuntary movements	9420	CYP7B1	ORPHA:100986
HP:0004305	Involuntary movements	22931	RAB18	OMIM:614222
HP:0004305	Involuntary movements	51117	COQ4	OMIM:620666
HP:0004305	Involuntary movements	959	CD40LG	OMIM:308230
HP:0004305	Involuntary movements	64837	KLC2	OMIM:609541
HP:0004305	Involuntary movements	79152	FA2H	ORPHA:171629
HP:0004305	Involuntary movements	79152	FA2H	OMIM:612319
HP:0004305	Involuntary movements	547	KIF1A	OMIM:610357
HP:0004305	Involuntary movements	9338	TCEAL1	OMIM:301094
HP:0004305	Involuntary movements	5456	POU3F4	ORPHA:1435
HP:0004305	Involuntary movements	219285	SAMD9L	OMIM:159550
HP:0004305	Involuntary movements	9289	ADGRG1	OMIM:606854
HP:0004305	Involuntary movements	57704	GBA2	OMIM:614409
HP:0004305	Involuntary movements	823	CAPN1	OMIM:616907
HP:0004305	Involuntary movements	823	CAPN1	ORPHA:488594
HP:0004305	Involuntary movements	6712	SPTBN2	OMIM:600224
HP:0004305	Involuntary movements	5297	PI4KA	OMIM:619621
HP:0004305	Involuntary movements	22978	NT5C2	OMIM:613162
HP:0004305	Involuntary movements	833	CARS1	OMIM:618891
HP:0004305	Involuntary movements	65055	REEP1	OMIM:610250
HP:0004305	Involuntary movements	113278	SLC52A3	OMIM:211530
HP:0004305	Involuntary movements	9900	SV2A	OMIM:620772
HP:0004305	Involuntary movements	91574	MTRFR	OMIM:615035
HP:0004305	Involuntary movements	1512	CTSH	ORPHA:2073
HP:0004305	Involuntary movements	5032	P2RY11	ORPHA:2073
HP:0004305	Involuntary movements	4340	MOG	ORPHA:2073
HP:0004305	Involuntary movements	3060	HCRT	ORPHA:2073
HP:0004305	Involuntary movements	22891	ZNF365	ORPHA:2073
HP:0004305	Involuntary movements	7555	CNBP	ORPHA:606
HP:0004305	Involuntary movements	83550	GPR101	ORPHA:963
HP:0004305	Involuntary movements	9049	AIP	ORPHA:963
HP:0004305	Involuntary movements	1719	DHFR	OMIM:613839
HP:0004305	Involuntary movements	54974	THG1L	OMIM:618800
HP:0004305	Involuntary movements	28982	FLVCR1	ORPHA:88628
HP:0004305	Involuntary movements	91452	ACBD5	OMIM:618863
HP:0004305	Involuntary movements	4128	MAOA	OMIM:300615
HP:0004305	Involuntary movements	63929	XPNPEP3	OMIM:613159
HP:0004305	Involuntary movements	84919	PPP1R15B	OMIM:616817
HP:0004305	Involuntary movements	3475	IFRD1	ORPHA:98771
HP:0004305	Involuntary movements	4099	MAG	ORPHA:459056
HP:0004305	Involuntary movements	5741	PTH	OMIM:146200
HP:0004305	Involuntary movements	27327	TNRC6A	OMIM:618074
HP:0004305	Involuntary movements	9693	RAPGEF2	OMIM:618075
HP:0004305	Involuntary movements	2767	GNA11	ORPHA:428
HP:0004305	Involuntary movements	8912	CACNA1H	ORPHA:64280
HP:0004305	Involuntary movements	10935	PRDX3	OMIM:619862
HP:0004305	Involuntary movements	215	ABCD1	ORPHA:139396
HP:0004305	Involuntary movements	10815	CPLX1	ORPHA:352582
HP:0004305	Involuntary movements	3704	ITPA	OMIM:616647
HP:0004305	Involuntary movements	80055	PGAP1	ORPHA:401820
HP:0004305	Involuntary movements	6638	SNRPN	OMIM:105830
HP:0004305	Involuntary movements	9578	CDC42BPB	OMIM:619841
HP:0006855	Cerebellar vermis atrophy	339453	TMEM240	ORPHA:98773
HP:0006855	Cerebellar vermis atrophy	9997	SCO2	OMIM:604377
HP:0006855	Cerebellar vermis atrophy	8450	CUL4B	OMIM:300354
HP:0006855	Cerebellar vermis atrophy	55703	POLR3B	OMIM:614381
HP:0006855	Cerebellar vermis atrophy	92935	MARS2	OMIM:611390
HP:0006855	Cerebellar vermis atrophy	375	ARF1	OMIM:618185
HP:0006855	Cerebellar vermis atrophy	57680	CHD8	OMIM:615032
HP:0006855	Cerebellar vermis atrophy	94005	PIGS	OMIM:618143
HP:0006855	Cerebellar vermis atrophy	2895	GRID2	OMIM:616204
HP:0006855	Cerebellar vermis atrophy	2895	GRID2	ORPHA:363432
HP:0006855	Cerebellar vermis atrophy	64116	SLC39A8	OMIM:616721
HP:0006855	Cerebellar vermis atrophy	9698	PUM1	OMIM:617931
HP:0006855	Cerebellar vermis atrophy	4311	MME	OMIM:617018
HP:0006855	Cerebellar vermis atrophy	4311	MME	ORPHA:497764
HP:0006855	Cerebellar vermis atrophy	23533	PIK3R5	ORPHA:64753
HP:0006855	Cerebellar vermis atrophy	23064	SETX	ORPHA:64753
HP:0006855	Cerebellar vermis atrophy	5828	PEX2	OMIM:614866
HP:0006855	Cerebellar vermis atrophy	10785	WDR4	OMIM:618347
HP:0006855	Cerebellar vermis atrophy	83548	COG3	OMIM:620546
HP:0006855	Cerebellar vermis atrophy	9254	CACNA2D2	OMIM:618501
HP:0006855	Cerebellar vermis atrophy	255928	SYT14	OMIM:614229
HP:0006855	Cerebellar vermis atrophy	51091	SEPSECS	OMIM:613811
HP:0006855	Cerebellar vermis atrophy	55775	TDP1	ORPHA:94124
HP:0006855	Cerebellar vermis atrophy	60481	ELOVL5	OMIM:615957
HP:0006855	Cerebellar vermis atrophy	5582	PRKCG	ORPHA:98763
HP:0006855	Cerebellar vermis atrophy	3708	ITPR1	ORPHA:208513
HP:0006855	Cerebellar vermis atrophy	3708	ITPR1	OMIM:117360
HP:0006855	Cerebellar vermis atrophy	3708	ITPR1	OMIM:606658
HP:0006855	Cerebellar vermis atrophy	3708	ITPR1	OMIM:206700
HP:0006855	Cerebellar vermis atrophy	773	CACNA1A	OMIM:108500
HP:0006855	Cerebellar vermis atrophy	773	CACNA1A	ORPHA:97
HP:0006855	Cerebellar vermis atrophy	26047	CNTNAP2	ORPHA:163681
HP:0006855	Cerebellar vermis atrophy	26047	CNTNAP2	OMIM:610042
HP:0006855	Cerebellar vermis atrophy	724066	ATXN8	ORPHA:98760
HP:0006855	Cerebellar vermis atrophy	6315	ATXN8OS	ORPHA:98760
HP:0006855	Cerebellar vermis atrophy	6548	SLC9A1	OMIM:616291
HP:0006855	Cerebellar vermis atrophy	203068	TUBB	OMIM:156610
HP:0006855	Cerebellar vermis atrophy	7222	TRPC3	OMIM:616410
HP:0006855	Cerebellar vermis atrophy	7222	TRPC3	ORPHA:458798
HP:0006855	Cerebellar vermis atrophy	5859	QARS1	OMIM:615760
HP:0006855	Cerebellar vermis atrophy	53335	BCL11A	OMIM:617101
HP:0006855	Cerebellar vermis atrophy	1742	DLG4	OMIM:618793
HP:0006855	Cerebellar vermis atrophy	4010	LMX1B	ORPHA:495818
HP:0006855	Cerebellar vermis atrophy	6812	STXBP1	ORPHA:495818
HP:0006855	Cerebellar vermis atrophy	9409	PEX16	OMIM:614877
HP:0006855	Cerebellar vermis atrophy	54676	GTPBP2	OMIM:617988
HP:0006855	Cerebellar vermis atrophy	11261	CHP1	OMIM:618438
HP:0006855	Cerebellar vermis atrophy	10908	PNPLA6	OMIM:275400
HP:0006855	Cerebellar vermis atrophy	4884	NPTX1	OMIM:620158
HP:0006855	Cerebellar vermis atrophy	26278	SACS	OMIM:270550
HP:0006855	Cerebellar vermis atrophy	5354	PLP1	OMIM:312080
HP:0006855	Cerebellar vermis atrophy	1600	DAB1	ORPHA:363710
HP:0006855	Cerebellar vermis atrophy	3064	HTT	ORPHA:248111
HP:0006855	Cerebellar vermis atrophy	3064	HTT	OMIM:617435
HP:0006855	Cerebellar vermis atrophy	8913	CACNA1G	ORPHA:458803
HP:0006855	Cerebellar vermis atrophy	8913	CACNA1G	OMIM:618087
HP:0006855	Cerebellar vermis atrophy	116228	COX20	OMIM:619054
HP:0006855	Cerebellar vermis atrophy	7518	XRCC4	OMIM:616541
HP:0006855	Cerebellar vermis atrophy	51741	WWOX	OMIM:614322
HP:0006855	Cerebellar vermis atrophy	23203	PMPCA	OMIM:213200
HP:0006855	Cerebellar vermis atrophy	23203	PMPCA	ORPHA:1170
HP:0006855	Cerebellar vermis atrophy	57410	SCYL1	ORPHA:466794
HP:0006855	Cerebellar vermis atrophy	57410	SCYL1	OMIM:616719
HP:0006855	Cerebellar vermis atrophy	823	CAPN1	OMIM:616907
HP:0006855	Cerebellar vermis atrophy	54936	ADPRS	OMIM:618170
HP:0006855	Cerebellar vermis atrophy	27072	VPS41	OMIM:619389
HP:0006855	Cerebellar vermis atrophy	79152	FA2H	ORPHA:329308
HP:0006855	Cerebellar vermis atrophy	84188	FAR1	OMIM:616154
HP:0006855	Cerebellar vermis atrophy	547	KIF1A	OMIM:614255
HP:0006855	Cerebellar vermis atrophy	5981	RFC1	OMIM:614575
HP:0006855	Cerebellar vermis atrophy	2705	GJB1	ORPHA:1175
HP:0006855	Cerebellar vermis atrophy	4976	OPA1	OMIM:210000
HP:0006855	Cerebellar vermis atrophy	6874	TAF4	OMIM:620450
HP:0006855	Cerebellar vermis atrophy	267010	RNU12	ORPHA:512260
HP:0000726	Dementia	5274	SERPINI1	OMIM:604218
HP:0000726	Dementia	5621	PRNP	ORPHA:282166
HP:0000726	Dementia	5621	PRNP	OMIM:600072
HP:0000726	Dementia	5621	PRNP	OMIM:603218
HP:0000726	Dementia	5621	PRNP	ORPHA:356
HP:0000726	Dementia	5621	PRNP	ORPHA:466
HP:0000726	Dementia	5621	PRNP	ORPHA:157941
HP:0000726	Dementia	5621	PRNP	OMIM:123400
HP:0000726	Dementia	5621	PRNP	OMIM:606688
HP:0000726	Dementia	5621	PRNP	OMIM:137440
HP:0000726	Dementia	6622	SNCA	OMIM:605543
HP:0000726	Dementia	6622	SNCA	ORPHA:2828
HP:0000726	Dementia	6622	SNCA	ORPHA:171695
HP:0000726	Dementia	6622	SNCA	ORPHA:411602
HP:0000726	Dementia	6622	SNCA	OMIM:127750
HP:0000726	Dementia	6622	SNCA	OMIM:168601
HP:0000726	Dementia	4287	ATXN3	OMIM:109150
HP:0000726	Dementia	4287	ATXN3	OMIM:168600
HP:0000726	Dementia	8029	CUBN	OMIM:261100
HP:0000726	Dementia	4137	MAPT	ORPHA:240094
HP:0000726	Dementia	4137	MAPT	OMIM:600274
HP:0000726	Dementia	4137	MAPT	ORPHA:100069
HP:0000726	Dementia	4137	MAPT	OMIM:260540
HP:0000726	Dementia	4137	MAPT	OMIM:168600
HP:0000726	Dementia	9782	MATR3	OMIM:606070
HP:0000726	Dementia	9782	MATR3	ORPHA:600
HP:0000726	Dementia	1593	CYP27A1	OMIM:213700
HP:0000726	Dementia	4693	NDP	OMIM:310600
HP:0000726	Dementia	51816	ADA2	ORPHA:820
HP:0000726	Dementia	5521	PPP2R2B	OMIM:604326
HP:0000726	Dementia	5521	PPP2R2B	ORPHA:98762
HP:0000726	Dementia	154881	KCTD7	ORPHA:263516
HP:0000726	Dementia	3073	HEXA	OMIM:272800
HP:0000726	Dementia	54209	TREM2	OMIM:618193
HP:0000726	Dementia	54209	TREM2	ORPHA:1020
HP:0000726	Dementia	54209	TREM2	ORPHA:100069
HP:0000726	Dementia	1639	DCTN1	ORPHA:178509
HP:0000726	Dementia	6311	ATXN2	OMIM:183090
HP:0000726	Dementia	6311	ATXN2	ORPHA:98756
HP:0000726	Dementia	6311	ATXN2	OMIM:168600
HP:0000726	Dementia	5155	PDGFB	OMIM:615483
HP:0000726	Dementia	8722	CTSF	OMIM:615362
HP:0000726	Dementia	3664	IRF6	OMIM:119500
HP:0000726	Dementia	5575	PRKAR1B	ORPHA:412066
HP:0000726	Dementia	100996717	NOTCH2NLC	ORPHA:2289
HP:0000726	Dementia	100996717	NOTCH2NLC	OMIM:603472
HP:0000726	Dementia	54982	CLN6	OMIM:204300
HP:0000726	Dementia	5159	PDGFRB	OMIM:615007
HP:0000726	Dementia	54476	RNF216	OMIM:212840
HP:0000726	Dementia	54476	RNF216	ORPHA:1173
HP:0000726	Dementia	1476	CSTB	OMIM:254800
HP:0000726	Dementia	1476	CSTB	ORPHA:308
HP:0000726	Dementia	1161	ERCC8	OMIM:216400
HP:0000726	Dementia	5428	POLG	ORPHA:298
HP:0000726	Dementia	5428	POLG	OMIM:203700
HP:0000726	Dementia	5428	POLG	OMIM:607459
HP:0000726	Dementia	5428	POLG	OMIM:603041
HP:0000726	Dementia	1890	TYMP	ORPHA:298
HP:0000726	Dementia	1890	TYMP	OMIM:603041
HP:0000726	Dementia	3980	LIG3	ORPHA:298
HP:0000726	Dementia	50484	RRM2B	ORPHA:298
HP:0000726	Dementia	50484	RRM2B	ORPHA:480
HP:0000726	Dementia	51324	SPG21	OMIM:248900
HP:0000726	Dementia	51324	SPG21	ORPHA:101001
HP:0000726	Dementia	410	ARSA	ORPHA:309271
HP:0000726	Dementia	5660	PSAP	ORPHA:309271
HP:0000726	Dementia	4574	MT-TS1	OMIM:540000
HP:0000726	Dementia	4574	MT-TS1	ORPHA:550
HP:0000726	Dementia	4575	MT-TS2	OMIM:540000
HP:0000726	Dementia	4575	MT-TS2	ORPHA:550
HP:0000726	Dementia	4535	MT-ND1	OMIM:540000
HP:0000726	Dementia	4535	MT-ND1	ORPHA:550
HP:0000726	Dementia	4567	MT-TL1	OMIM:540000
HP:0000726	Dementia	4567	MT-TL1	ORPHA:480
HP:0000726	Dementia	4567	MT-TL1	ORPHA:550
HP:0000726	Dementia	4512	MT-CO1	OMIM:540000
HP:0000726	Dementia	4512	MT-CO1	ORPHA:550
HP:0000726	Dementia	4513	MT-CO2	OMIM:540000
HP:0000726	Dementia	4513	MT-CO2	ORPHA:550
HP:0000726	Dementia	4514	MT-CO3	OMIM:540000
HP:0000726	Dementia	4514	MT-CO3	ORPHA:550
HP:0000726	Dementia	4519	MT-CYB	OMIM:540000
HP:0000726	Dementia	4511	MT-TC	OMIM:540000
HP:0000726	Dementia	4572	MT-TQ	OMIM:540000
HP:0000726	Dementia	4572	MT-TQ	ORPHA:550
HP:0000726	Dementia	4577	MT-TV	OMIM:540000
HP:0000726	Dementia	4578	MT-TW	OMIM:540000
HP:0000726	Dementia	4578	MT-TW	ORPHA:550
HP:0000726	Dementia	4558	MT-TF	OMIM:540000
HP:0000726	Dementia	4558	MT-TF	ORPHA:550
HP:0000726	Dementia	4566	MT-TK	OMIM:540000
HP:0000726	Dementia	4540	MT-ND5	OMIM:540000
HP:0000726	Dementia	4540	MT-ND5	ORPHA:550
HP:0000726	Dementia	4541	MT-ND6	OMIM:540000
HP:0000726	Dementia	4541	MT-ND6	ORPHA:550
HP:0000726	Dementia	348	APOE	OMIM:607822
HP:0000726	Dementia	348	APOE	OMIM:606889
HP:0000726	Dementia	348	APOE	OMIM:104310
HP:0000726	Dementia	5663	PSEN1	OMIM:607822
HP:0000726	Dementia	5663	PSEN1	OMIM:600274
HP:0000726	Dementia	5663	PSEN1	ORPHA:1020
HP:0000726	Dementia	5663	PSEN1	ORPHA:100069
HP:0000726	Dementia	51360	MBTPS2	ORPHA:2273
HP:0000726	Dementia	3064	HTT	ORPHA:248111
HP:0000726	Dementia	3064	HTT	OMIM:143100
HP:0000726	Dementia	1716	DGUOK	ORPHA:329314
HP:0000726	Dementia	1716	DGUOK	OMIM:617070
HP:0000726	Dementia	10558	SPTLC1	OMIM:620285
HP:0000726	Dementia	2332	FMR1	ORPHA:93256
HP:0000726	Dementia	2332	FMR1	OMIM:300623
HP:0000726	Dementia	7276	TTR	OMIM:105210
HP:0000726	Dementia	4508	MT-ATP6	OMIM:551500
HP:0000726	Dementia	4508	MT-ATP6	ORPHA:644
HP:0000726	Dementia	1130	LYST	ORPHA:167
HP:0000726	Dementia	22	ABCB7	OMIM:301310
HP:0000726	Dementia	23400	ATP13A2	ORPHA:513436
HP:0000726	Dementia	23400	ATP13A2	ORPHA:306674
HP:0000726	Dementia	23400	ATP13A2	OMIM:617225
HP:0000726	Dementia	23400	ATP13A2	OMIM:606693
HP:0000726	Dementia	215	ABCD1	OMIM:300100
HP:0000726	Dementia	10715	CERS1	OMIM:616230
HP:0000726	Dementia	9445	ITM2B	OMIM:117300
HP:0000726	Dementia	9445	ITM2B	OMIM:176500
HP:0000726	Dementia	10908	PNPLA6	ORPHA:1173
HP:0000726	Dementia	83636	C19orf12	OMIM:614298
HP:0000726	Dementia	80208	SPG11	ORPHA:2822
HP:0000726	Dementia	1201	CLN3	OMIM:204200
HP:0000726	Dementia	54840	APTX	OMIM:208920
HP:0000726	Dementia	54832	VPS13C	ORPHA:2828
HP:0000726	Dementia	54832	VPS13C	OMIM:616840
HP:0000726	Dementia	11315	PARK7	ORPHA:2828
HP:0000726	Dementia	7345	UCHL1	ORPHA:2828
HP:0000726	Dementia	27429	HTRA2	ORPHA:2828
HP:0000726	Dementia	120892	LRRK2	ORPHA:2828
HP:0000726	Dementia	120892	LRRK2	ORPHA:411602
HP:0000726	Dementia	120892	LRRK2	OMIM:607060
HP:0000726	Dementia	9829	DNAJC6	ORPHA:2828
HP:0000726	Dementia	5420	PODXL	ORPHA:2828
HP:0000726	Dementia	65018	PINK1	ORPHA:2828
HP:0000726	Dementia	65018	PINK1	OMIM:605909
HP:0000726	Dementia	8867	SYNJ1	ORPHA:2828
HP:0000726	Dementia	5071	PRKN	ORPHA:2828
HP:0000726	Dementia	5071	PRKN	OMIM:600116
HP:0000726	Dementia	57338	JPH3	ORPHA:98934
HP:0000726	Dementia	57338	JPH3	OMIM:606438
HP:0000726	Dementia	6908	TBP	OMIM:607136
HP:0000726	Dementia	6908	TBP	OMIM:168600
HP:0000726	Dementia	4854	NOTCH3	OMIM:125310
HP:0000726	Dementia	4854	NOTCH3	ORPHA:136
HP:0000726	Dementia	2629	GBA1	OMIM:231000
HP:0000726	Dementia	2629	GBA1	ORPHA:77261
HP:0000726	Dementia	2629	GBA1	ORPHA:411602
HP:0000726	Dementia	2629	GBA1	OMIM:127750
HP:0000726	Dementia	2629	GBA1	OMIM:168600
HP:0000726	Dementia	1471	CST3	OMIM:105150
HP:0000726	Dementia	5654	HTRA1	ORPHA:199354
HP:0000726	Dementia	5654	HTRA1	OMIM:600142
HP:0000726	Dementia	5654	HTRA1	OMIM:616779
HP:0000726	Dementia	2512	FTL	OMIM:606159
HP:0000726	Dementia	11277	TREX1	OMIM:192315
HP:0000726	Dementia	493856	CISD2	ORPHA:3463
HP:0000726	Dementia	7466	WFS1	ORPHA:3463
HP:0000726	Dementia	7466	WFS1	ORPHA:411590
HP:0000726	Dementia	80025	PANK2	OMIM:234200
HP:0000726	Dementia	1822	ATN1	ORPHA:101
HP:0000726	Dementia	1822	ATN1	OMIM:125370
HP:0000726	Dementia	4311	MME	ORPHA:497764
HP:0000726	Dementia	4311	MME	OMIM:617017
HP:0000726	Dementia	540	ATP7B	OMIM:277900
HP:0000726	Dementia	11152	WDR45	OMIM:300894
HP:0000726	Dementia	11152	WDR45	ORPHA:329284
HP:0000726	Dementia	1282	COL4A1	OMIM:618564
HP:0000726	Dementia	7415	VCP	ORPHA:329478
HP:0000726	Dementia	7415	VCP	OMIM:167320
HP:0000726	Dementia	6389	SDHA	ORPHA:3208
HP:0000726	Dementia	6390	SDHB	ORPHA:3208
HP:0000726	Dementia	6392	SDHD	ORPHA:3208
HP:0000726	Dementia	644096	SDHAF1	ORPHA:3208
HP:0000726	Dementia	5664	PSEN2	ORPHA:1020
HP:0000726	Dementia	5664	PSEN2	OMIM:613697
HP:0000726	Dementia	5664	PSEN2	OMIM:606889
HP:0000726	Dementia	10452	TOMM40	ORPHA:1020
HP:0000726	Dementia	351	APP	ORPHA:1020
HP:0000726	Dementia	351	APP	OMIM:605714
HP:0000726	Dementia	351	APP	OMIM:104300
HP:0000726	Dementia	351	APP	ORPHA:324713
HP:0000726	Dementia	351	APP	ORPHA:324703
HP:0000726	Dementia	351	APP	ORPHA:324708
HP:0000726	Dementia	351	APP	ORPHA:100006
HP:0000726	Dementia	10347	ABCA7	ORPHA:1020
HP:0000726	Dementia	6653	SORL1	ORPHA:1020
HP:0000726	Dementia	10229	COQ7	OMIM:620402
HP:0000726	Dementia	6683	SPAST	OMIM:182601
HP:0000726	Dementia	57704	GBA2	OMIM:614409
HP:0000726	Dementia	57704	GBA2	ORPHA:320391
HP:0000726	Dementia	2055	CLN8	ORPHA:1947
HP:0000726	Dementia	284111	SLC13A5	ORPHA:1946
HP:0000726	Dementia	79641	ROGDI	ORPHA:1946
HP:0000726	Dementia	79641	ROGDI	OMIM:226750
HP:0000726	Dementia	5832	ALDH18A1	ORPHA:447757
HP:0000726	Dementia	5832	ALDH18A1	ORPHA:447753
HP:0000726	Dementia	4556	MT-TE	ORPHA:2596
HP:0000726	Dementia	56652	TWNK	OMIM:607459
HP:0000726	Dementia	56652	TWNK	OMIM:609286
HP:0000726	Dementia	80331	DNAJC5	OMIM:162350
HP:0000726	Dementia	4509	MT-ATP8	ORPHA:480
HP:0000726	Dementia	23503	ZFYVE26	ORPHA:100996
HP:0000726	Dementia	25793	FBXO7	ORPHA:171695
HP:0000726	Dementia	16	AARS1	OMIM:619661
HP:0000726	Dementia	51142	CHCHD2	OMIM:616710
HP:0000726	Dementia	4001	LMNB1	ORPHA:99027
HP:0000726	Dementia	25978	CHMP2B	ORPHA:100069
HP:0000726	Dementia	2896	GRN	ORPHA:100069
HP:0000726	Dementia	54664	TMEM106B	ORPHA:100069
HP:0000726	Dementia	2639	GCDH	ORPHA:25
HP:0000726	Dementia	4538	MT-ND4	ORPHA:550
HP:0000726	Dementia	4564	MT-TH	ORPHA:550
HP:0000726	Dementia	7080	NKX2-1	OMIM:118700
HP:0000726	Dementia	1356	CP	OMIM:604290
HP:0000726	Dementia	2066	ERBB4	OMIM:615515
HP:0000726	Dementia	4353	MPO	OMIM:104300
HP:0000726	Dementia	4846	NOS3	OMIM:104300
HP:0000726	Dementia	5328	PLAU	OMIM:104300
HP:0000726	Dementia	144165	PRICKLE1	ORPHA:308
HP:0000726	Dementia	950	SCARB2	ORPHA:308
HP:0000726	Dementia	25814	ATXN10	OMIM:603516
HP:0000726	Dementia	57505	AARS2	OMIM:615889
HP:0000726	Dementia	2581	GALC	ORPHA:206448
HP:0000726	Dementia	54822	TRPM7	OMIM:105500
HP:0000726	Dementia	427	ASAH1	OMIM:159950
HP:0000726	Dementia	10059	DNM1L	ORPHA:98673
HP:0000726	Dementia	4976	OPA1	ORPHA:98673
HP:0000726	Dementia	4694	NDUFA1	OMIM:301020
HP:0000726	Dementia	84196	USP48	ORPHA:96253
HP:0000726	Dementia	7157	TP53	ORPHA:96253
HP:0000726	Dementia	9101	USP8	ORPHA:96253
HP:0000726	Dementia	64072	CDH23	ORPHA:96253
HP:0000726	Dementia	2908	NR3C1	ORPHA:96253
HP:0000726	Dementia	673	BRAF	ORPHA:96253
HP:0000726	Dementia	546	ATRX	ORPHA:96253
HP:0000726	Dementia	2072	ERCC4	OMIM:278760
HP:0000726	Dementia	51704	GPRC5B	OMIM:620447
HP:0000726	Dementia	23317	DNAJC13	ORPHA:411602
HP:0000726	Dementia	1981	EIF4G1	ORPHA:411602
HP:0000726	Dementia	55737	VPS35	ORPHA:411602
HP:0000726	Dementia	26058	GIGYF2	ORPHA:411602
HP:0000726	Dementia	311	ANXA11	OMIM:617839
HP:0000726	Dementia	116442	RAB39B	OMIM:311510
HP:0000726	Dementia	1737	DLAT	ORPHA:79244
HP:0000726	Dementia	549	AUH	OMIM:250950
HP:0000726	Dementia	4864	NPC1	OMIM:257220
HP:0000726	Dementia	378884	NHLRC1	OMIM:620681
HP:0000726	Dementia	378884	NHLRC1	ORPHA:501
HP:0000726	Dementia	3119	HLA-DQB1	OMIM:123400
HP:0000726	Dementia	2632	GBE1	ORPHA:206583
HP:0000726	Dementia	56978	PRDM8	OMIM:616640
HP:0000726	Dementia	10382	TUBB4A	ORPHA:98805
HP:0000726	Dementia	7957	EPM2A	ORPHA:501
HP:0000726	Dementia	7957	EPM2A	OMIM:254780
HP:0000726	Dementia	203228	C9orf72	OMIM:105550
HP:0000726	Dementia	56910	STARD7	OMIM:607876
HP:0000726	Dementia	23230	VPS13A	OMIM:200150
HP:0000726	Dementia	9213	XPR1	OMIM:616413
HP:0000726	Dementia	219285	SAMD9L	OMIM:619806
HP:0000726	Dementia	1786	DNMT1	OMIM:614116
HP:0000726	Dementia	1786	DNMT1	OMIM:604121
HP:0000726	Dementia	6620	SNCB	OMIM:127750
HP:0000726	Dementia	10846	PDE10A	ORPHA:494541
HP:0000726	Dementia	10577	NPC2	OMIM:607625
HP:0000726	Dementia	23545	ATP6V0A2	ORPHA:357074
HP:0000726	Dementia	523	ATP6V1A	ORPHA:357074
HP:0000726	Dementia	529	ATP6V1E1	ORPHA:357074
HP:0000726	Dementia	1540	CYLD	OMIM:619132
HP:0000726	Dementia	25974	MMACHC	ORPHA:79282
HP:0000726	Dementia	25974	MMACHC	OMIM:277400
HP:0000726	Dementia	1678	TIMM8A	ORPHA:52368
HP:0000726	Dementia	126129	CPT1C	ORPHA:444099
HP:0000726	Dementia	80217	CFAP43	OMIM:236690
HP:0000726	Dementia	7305	TYROBP	OMIM:221770
HP:0000726	Dementia	126	ADH1C	OMIM:168600
HP:0000726	Dementia	4576	MT-TT	OMIM:168600
HP:0000726	Dementia	9627	SNCAIP	OMIM:168600
HP:0000726	Dementia	4929	NR4A2	OMIM:168600
HP:0000726	Dementia	6315	ATXN8OS	OMIM:168600
HP:0000726	Dementia	5052	PRDX1	OMIM:277400
HP:0000726	Dementia	2760	GM2A	OMIM:272750
HP:0000726	Dementia	400916	CHCHD10	OMIM:615911
HP:0000726	Dementia	1436	CSF1R	OMIM:221820
HP:0000726	Dementia	8398	PLA2G6	ORPHA:199351
HP:0000726	Dementia	8398	PLA2G6	OMIM:612953
HP:0000726	Dementia	29978	UBQLN2	OMIM:300857
HP:0000726	Dementia	29978	UBQLN2	ORPHA:803
HP:0000726	Dementia	7072	TIA1	OMIM:619133
HP:0000726	Dementia	23435	TARDBP	OMIM:612069
HP:0000726	Dementia	23435	TARDBP	ORPHA:275872
HP:0000726	Dementia	23435	TARDBP	ORPHA:803
HP:0000726	Dementia	7277	TUBA4A	OMIM:616208
HP:0000726	Dementia	2521	FUS	ORPHA:275872
HP:0000726	Dementia	2521	FUS	ORPHA:803
HP:0000726	Dementia	8878	SQSTM1	ORPHA:275872
HP:0000726	Dementia	8878	SQSTM1	ORPHA:803
HP:0000726	Dementia	8878	SQSTM1	ORPHA:275864
HP:0000726	Dementia	8878	SQSTM1	OMIM:616437
HP:0000726	Dementia	29110	TBK1	ORPHA:275872
HP:0000726	Dementia	29110	TBK1	ORPHA:803
HP:0000726	Dementia	29110	TBK1	OMIM:616439
HP:0000726	Dementia	3178	HNRNPA1	ORPHA:803
HP:0000726	Dementia	3178	HNRNPA1	ORPHA:52430
HP:0000726	Dementia	8148	TAF15	ORPHA:803
HP:0000726	Dementia	5445	PON2	ORPHA:803
HP:0000726	Dementia	9217	VAPB	ORPHA:803
HP:0000726	Dementia	5630	PRPH	ORPHA:803
HP:0000726	Dementia	55830	GLT8D1	ORPHA:803
HP:0000726	Dementia	755	CFAP410	ORPHA:803
HP:0000726	Dementia	10891	PPARGC1A	ORPHA:803
HP:0000726	Dementia	6647	SOD1	ORPHA:803
HP:0000726	Dementia	10133	OPTN	ORPHA:803
HP:0000726	Dementia	9896	FIG4	ORPHA:803
HP:0000726	Dementia	5444	PON1	ORPHA:803
HP:0000726	Dementia	5446	PON3	ORPHA:803
HP:0000726	Dementia	4744	NEFH	ORPHA:803
HP:0000726	Dementia	5216	PFN1	ORPHA:803
HP:0000726	Dementia	283	ANG	ORPHA:803
HP:0000726	Dementia	2733	GLE1	ORPHA:803
HP:0000726	Dementia	4750	NEK1	ORPHA:803
HP:0000726	Dementia	1610	DAO	ORPHA:803
HP:0000726	Dementia	23025	UNC13A	ORPHA:803
HP:0000726	Dementia	899	CCNF	ORPHA:803
HP:0000726	Dementia	899	CCNF	OMIM:619141
HP:0000726	Dementia	3181	HNRNPA2B1	OMIM:615422
HP:0000726	Dementia	3181	HNRNPA2B1	ORPHA:52430
HP:0007123	Subcortical dementia	57338	JPH3	OMIM:606438
HP:0007123	Subcortical dementia	2512	FTL	OMIM:606159
HP:0007123	Subcortical dementia	2512	FTL	ORPHA:157846
HP:0007123	Subcortical dementia	4854	NOTCH3	OMIM:125310
HP:0002335	Agenesis of cerebellar vermis	4208	MEF2C	ORPHA:228384
HP:0002335	Agenesis of cerebellar vermis	60529	ALX4	OMIM:613451
HP:0002335	Agenesis of cerebellar vermis	60529	ALX4	ORPHA:228390
HP:0002335	Agenesis of cerebellar vermis	79147	FKRP	OMIM:613153
HP:0002335	Agenesis of cerebellar vermis	100151683	RNU4ATAC	OMIM:210710
HP:0002335	Agenesis of cerebellar vermis	80184	CEP290	OMIM:611134
HP:0002335	Agenesis of cerebellar vermis	80184	CEP290	OMIM:610188
HP:0002335	Agenesis of cerebellar vermis	3839	KPNA3	OMIM:620106
HP:0002335	Agenesis of cerebellar vermis	65062	TMEM237	OMIM:614424
HP:0002335	Agenesis of cerebellar vermis	51259	TMEM216	OMIM:608091
HP:0002335	Agenesis of cerebellar vermis	56623	INPP5E	OMIM:213300
HP:0002335	Agenesis of cerebellar vermis	256297	PTF1A	OMIM:609069
HP:0002335	Agenesis of cerebellar vermis	9839	ZEB2	ORPHA:261537
HP:0002335	Agenesis of cerebellar vermis	9839	ZEB2	ORPHA:261552
HP:0002335	Agenesis of cerebellar vermis	7020	TFAP2A	OMIM:113620
HP:0002335	Agenesis of cerebellar vermis	11041	B4GAT1	OMIM:615287
HP:0002335	Agenesis of cerebellar vermis	84342	COG8	OMIM:611182
HP:0002335	Agenesis of cerebellar vermis	5147	PDE6D	OMIM:615665
HP:0002335	Agenesis of cerebellar vermis	9928	KIF14	OMIM:616258
HP:0002335	Agenesis of cerebellar vermis	4598	MVK	OMIM:610377
HP:0002335	Agenesis of cerebellar vermis	26123	TCTN3	OMIM:614815
HP:0007129	Cerebellar medulloblastoma	324	APC	ORPHA:99818
HP:0007129	Cerebellar medulloblastoma	9817	KEAP1	ORPHA:276399
HP:0007129	Cerebellar medulloblastoma	23405	DICER1	ORPHA:276399
HP:0030007	EMG: positive sharp waves	23064	SETX	OMIM:602433
HP:0030007	EMG: positive sharp waves	6445	SGCG	ORPHA:353
HP:0030007	EMG: positive sharp waves	10342	TFG	ORPHA:90117
HP:0030007	EMG: positive sharp waves	10133	OPTN	OMIM:613435
HP:0030007	EMG: positive sharp waves	311	ANXA11	OMIM:619733
HP:0030007	EMG: positive sharp waves	4929	NR4A2	OMIM:619911
HP:0030007	EMG: positive sharp waves	64419	MTMR14	OMIM:160150
HP:0030007	EMG: positive sharp waves	1785	DNM2	OMIM:160150
HP:0030007	EMG: positive sharp waves	10020	GNE	ORPHA:602
HP:0033260	Livedo racemosa	51816	ADA2	OMIM:615688
HP:0033260	Livedo racemosa	51816	ADA2	OMIM:182410
HP:0033260	Livedo racemosa	51816	ADA2	ORPHA:820
HP:0033261	Renal artery aneurysm	51816	ADA2	OMIM:615688
HP:0033263	Absent platelet dense granules	89781	HPS4	OMIM:614073
HP:0033263	Absent platelet dense granules	11234	HPS5	OMIM:614074
HP:0033263	Absent platelet dense granules	8546	AP3B1	OMIM:608233
HP:0033263	Absent platelet dense granules	79803	HPS6	OMIM:614075
HP:0033264	Enlarged platelet dense granules	8546	AP3B1	OMIM:608233
HP:0012430	Cerebral white matter hypoplasia	9839	ZEB2	ORPHA:261537
HP:0012430	Cerebral white matter hypoplasia	9839	ZEB2	ORPHA:261552
HP:0012430	Cerebral white matter hypoplasia	29968	PSAT1	ORPHA:284417
HP:0012430	Cerebral white matter hypoplasia	4677	NARS1	OMIM:619091
HP:0012430	Cerebral white matter hypoplasia	23028	KDM1A	ORPHA:477993
HP:0012430	Cerebral white matter hypoplasia	23028	KDM1A	OMIM:616728
HP:0012430	Cerebral white matter hypoplasia	51075	TMX2	OMIM:618730
HP:0012430	Cerebral white matter hypoplasia	2232	FDXR	ORPHA:543470
HP:0012430	Cerebral white matter hypoplasia	5277	PIGA	OMIM:300868
HP:0012430	Cerebral white matter hypoplasia	10352	WARS2	ORPHA:572798
HP:0012430	Cerebral white matter hypoplasia	112939	NACC1	ORPHA:500545
HP:0012430	Cerebral white matter hypoplasia	92335	STRADA	ORPHA:500533
HP:0012430	Cerebral white matter hypoplasia	6513	SLC2A1	ORPHA:168577
HP:0012431	Episodic fatigue	6521	SLC4A1	ORPHA:3202
HP:0012431	Episodic fatigue	9780	PIEZO1	ORPHA:3202
HP:0012431	Episodic fatigue	3783	KCNN4	ORPHA:3202
HP:0012432	Chronic fatigue	4088	SMAD3	ORPHA:284984
HP:0012432	Chronic fatigue	4088	SMAD3	OMIM:613795
HP:0012432	Chronic fatigue	7084	TK2	ORPHA:254875
HP:0012432	Chronic fatigue	114548	NLRP3	OMIM:191900
HP:0012432	Chronic fatigue	165	AEBP1	OMIM:618000
HP:0012432	Chronic fatigue	10625	IVNS1ABP	OMIM:618969
HP:0012432	Chronic fatigue	4194	MDM4	OMIM:618849
HP:0012432	Chronic fatigue	4087	SMAD2	OMIM:619656
HP:0012432	Chronic fatigue	8659	ALDH4A1	ORPHA:79101
HP:0012432	Chronic fatigue	56246	MRAP	ORPHA:361
HP:0012432	Chronic fatigue	6770	STAR	ORPHA:361
HP:0012432	Chronic fatigue	4158	MC2R	ORPHA:361
HP:0012432	Chronic fatigue	23530	NNT	ORPHA:361
HP:0012432	Chronic fatigue	10587	TXNRD2	ORPHA:361
HP:0012432	Chronic fatigue	440275	EIF2AK4	OMIM:234810
HP:0012432	Chronic fatigue	672	BRCA1	ORPHA:1333
HP:0012432	Chronic fatigue	285282	RABL3	ORPHA:1333
HP:0012432	Chronic fatigue	7157	TP53	ORPHA:1333
HP:0012432	Chronic fatigue	675	BRCA2	ORPHA:1333
HP:0012432	Chronic fatigue	3845	KRAS	ORPHA:1333
HP:0012432	Chronic fatigue	1029	CDKN2A	ORPHA:1333
HP:0012432	Chronic fatigue	79728	PALB2	ORPHA:1333
HP:0012432	Chronic fatigue	4089	SMAD4	ORPHA:1333
HP:0012432	Chronic fatigue	23022	PALLD	ORPHA:1333
HP:0012432	Chronic fatigue	7046	TGFBR1	OMIM:609192
HP:0012432	Chronic fatigue	5660	PSAP	OMIM:610539
HP:0012433	Abnormal social behavior	55367	PIDD1	OMIM:619827
HP:0012433	Abnormal social behavior	25978	CHMP2B	ORPHA:275864
HP:0012433	Abnormal social behavior	25978	CHMP2B	OMIM:600795
HP:0012433	Abnormal social behavior	54664	TMEM106B	ORPHA:275864
HP:0012433	Abnormal social behavior	8878	SQSTM1	ORPHA:275864
HP:0012433	Abnormal social behavior	4137	MAPT	ORPHA:275864
HP:0012433	Abnormal social behavior	7415	VCP	ORPHA:275864
HP:0012433	Abnormal social behavior	2760	GM2A	ORPHA:309246
HP:0012433	Abnormal social behavior	7305	TYROBP	OMIM:221770
HP:0012433	Abnormal social behavior	1639	DCTN1	OMIM:168605
HP:0012433	Abnormal social behavior	5575	PRKAR1B	ORPHA:412066
HP:0012433	Abnormal social behavior	5138	PDE2A	OMIM:619150
HP:0012433	Abnormal social behavior	7337	UBE3A	ORPHA:98794
HP:0012433	Abnormal social behavior	7337	UBE3A	ORPHA:411511
HP:0012433	Abnormal social behavior	7337	UBE3A	ORPHA:411515
HP:0012433	Abnormal social behavior	4948	OCA2	ORPHA:98794
HP:0012433	Abnormal social behavior	158	ADSL	OMIM:103050
HP:0012433	Abnormal social behavior	57459	GATAD2B	OMIM:615074
HP:0012433	Abnormal social behavior	57459	GATAD2B	ORPHA:363686
HP:0012433	Abnormal social behavior	388662	SLC6A17	ORPHA:457212
HP:0012433	Abnormal social behavior	388662	SLC6A17	OMIM:616269
HP:0012433	Abnormal social behavior	10479	SLC9A6	ORPHA:85278
HP:0012433	Abnormal social behavior	94005	PIGS	OMIM:618143
HP:0012433	Abnormal social behavior	1859	DYRK1A	OMIM:614104
HP:0012433	Abnormal social behavior	23102	TBC1D2B	OMIM:619323
HP:0012433	Abnormal social behavior	1436	CSF1R	OMIM:618476
HP:0012433	Abnormal social behavior	4858	NOVA2	OMIM:618859
HP:0012433	Abnormal social behavior	80055	PGAP1	OMIM:615802
HP:0012433	Abnormal social behavior	57194	ATP10A	ORPHA:411515
HP:0012433	Abnormal social behavior	546	ATRX	OMIM:309580
HP:0012433	Abnormal social behavior	2737	GLI3	ORPHA:672
HP:0012433	Abnormal social behavior	10785	WDR4	OMIM:618347
HP:0012433	Abnormal social behavior	9675	TTI1	OMIM:620445
HP:0012433	Abnormal social behavior	9894	TELO2	OMIM:616954
HP:0012433	Abnormal social behavior	84628	NTNG2	OMIM:618718
HP:0012433	Abnormal social behavior	3028	HSD17B10	ORPHA:391428
HP:0012433	Abnormal social behavior	10682	EBP	ORPHA:401973
HP:0012433	Abnormal social behavior	410	ARSA	ORPHA:309271
HP:0012433	Abnormal social behavior	410	ARSA	ORPHA:309263
HP:0012433	Abnormal social behavior	410	ARSA	ORPHA:309256
HP:0012433	Abnormal social behavior	5660	PSAP	ORPHA:309271
HP:0012433	Abnormal social behavior	5660	PSAP	ORPHA:309263
HP:0012433	Abnormal social behavior	5660	PSAP	ORPHA:309256
HP:0012433	Abnormal social behavior	57526	PCDH19	ORPHA:101039
HP:0012433	Abnormal social behavior	6513	SLC2A1	ORPHA:64280
HP:0012433	Abnormal social behavior	2562	GABRB3	ORPHA:64280
HP:0012433	Abnormal social behavior	2554	GABRA1	ORPHA:64280
HP:0012433	Abnormal social behavior	8912	CACNA1H	ORPHA:64280
HP:0012433	Abnormal social behavior	8629	JRK	ORPHA:64280
HP:0012433	Abnormal social behavior	2566	GABRG2	ORPHA:64280
HP:0012433	Abnormal social behavior	284058	KANSL1	ORPHA:363965
HP:0012433	Abnormal social behavior	284058	KANSL1	ORPHA:363958
HP:0012433	Abnormal social behavior	1806	DPYD	ORPHA:1675
HP:0012433	Abnormal social behavior	9968	MED12	ORPHA:93932
HP:0012433	Abnormal social behavior	3458	IFNG	ORPHA:805
HP:0012433	Abnormal social behavior	7248	TSC1	ORPHA:805
HP:0012433	Abnormal social behavior	7249	TSC2	ORPHA:805
HP:0012433	Abnormal social behavior	6804	STX1A	ORPHA:904
HP:0012433	Abnormal social behavior	7461	CLIP2	ORPHA:904
HP:0012433	Abnormal social behavior	84277	DNAJC30	ORPHA:904
HP:0012433	Abnormal social behavior	8468	FKBP6	ORPHA:904
HP:0012433	Abnormal social behavior	5982	RFC2	ORPHA:904
HP:0012433	Abnormal social behavior	2969	GTF2I	ORPHA:904
HP:0012433	Abnormal social behavior	3984	LIMK1	ORPHA:904
HP:0012433	Abnormal social behavior	9569	GTF2IRD1	ORPHA:904
HP:0012433	Abnormal social behavior	155382	VPS37D	ORPHA:904
HP:0012433	Abnormal social behavior	155368	METTL27	ORPHA:904
HP:0012433	Abnormal social behavior	114049	BUD23	ORPHA:904
HP:0012433	Abnormal social behavior	7458	EIF4H	ORPHA:904
HP:0012433	Abnormal social behavior	84163	GTF2IRD2	ORPHA:904
HP:0012433	Abnormal social behavior	26608	TBL2	ORPHA:904
HP:0012433	Abnormal social behavior	653361	NCF1	ORPHA:904
HP:0012433	Abnormal social behavior	135886	TMEM270	ORPHA:904
HP:0012433	Abnormal social behavior	9031	BAZ1B	ORPHA:904
HP:0012433	Abnormal social behavior	2006	ELN	ORPHA:904
HP:0012433	Abnormal social behavior	5663	PSEN1	ORPHA:1020
HP:0012433	Abnormal social behavior	5664	PSEN2	ORPHA:1020
HP:0012433	Abnormal social behavior	10452	TOMM40	ORPHA:1020
HP:0012433	Abnormal social behavior	351	APP	ORPHA:1020
HP:0012433	Abnormal social behavior	54209	TREM2	ORPHA:1020
HP:0012433	Abnormal social behavior	10347	ABCA7	ORPHA:1020
HP:0012433	Abnormal social behavior	6653	SORL1	ORPHA:1020
HP:0012433	Abnormal social behavior	6638	SNRPN	ORPHA:177907
HP:0012433	Abnormal social behavior	5457	POU4F1	ORPHA:314647
HP:0012433	Abnormal social behavior	23261	CAMTA1	ORPHA:314647
HP:0012433	Abnormal social behavior	11113	CIT	OMIM:617090
HP:0012433	Abnormal social behavior	80856	LNPK	OMIM:618090
HP:0012433	Abnormal social behavior	9227	LRAT	ORPHA:364055
HP:0012433	Abnormal social behavior	55812	SPATA7	ORPHA:364055
HP:0012433	Abnormal social behavior	6121	RPE65	ORPHA:364055
HP:0012433	Abnormal social behavior	167691	LCA5	ORPHA:364055
HP:0012433	Abnormal social behavior	51645	PPIL1	OMIM:619301
HP:0012433	Abnormal social behavior	57511	COG6	ORPHA:363523
HP:0012433	Abnormal social behavior	8812	CCNK	OMIM:618147
HP:0012433	Abnormal social behavior	51362	CDC40	OMIM:619302
HP:0012433	Abnormal social behavior	1496	CTNNA2	OMIM:618174
HP:0012433	Abnormal social behavior	57231	SNX14	OMIM:616354
HP:0012433	Abnormal social behavior	8913	CACNA1G	OMIM:618087
HP:0012433	Abnormal social behavior	160418	TMTC3	OMIM:617255
HP:0012433	Abnormal social behavior	6833	ABCC8	OMIM:618857
HP:0012433	Abnormal social behavior	10381	TUBB3	ORPHA:300570
HP:0012433	Abnormal social behavior	93986	FOXP2	ORPHA:209908
HP:0012433	Abnormal social behavior	10297	APC2	OMIM:618677
HP:0012433	Abnormal social behavior	79971	WLS	OMIM:619648
HP:0012433	Abnormal social behavior	271	AMPD2	OMIM:615809
HP:0012433	Abnormal social behavior	3708	ITPR1	ORPHA:208513
HP:0012433	Abnormal social behavior	388015	RTL1	ORPHA:254531
HP:0012433	Abnormal social behavior	8788	DLK1	ORPHA:254531
HP:0012433	Abnormal social behavior	55384	MEG3	ORPHA:254531
HP:0012433	Abnormal social behavior	83480	PUS3	OMIM:617051
HP:0012433	Abnormal social behavior	10771	ZMYND11	OMIM:616083
HP:0012433	Abnormal social behavior	6535	SLC6A8	OMIM:300352
HP:0012433	Abnormal social behavior	23394	ADNP	ORPHA:404448
HP:0012433	Abnormal social behavior	23394	ADNP	OMIM:615873
HP:0012433	Abnormal social behavior	340533	NEXMIF	OMIM:300912
HP:0012433	Abnormal social behavior	340533	NEXMIF	ORPHA:1942
HP:0012433	Abnormal social behavior	84894	LINGO1	OMIM:618103
HP:0012433	Abnormal social behavior	23126	POGZ	OMIM:616364
HP:0012433	Abnormal social behavior	57680	CHD8	OMIM:615032
HP:0012433	Abnormal social behavior	6711	SPTBN1	OMIM:619475
HP:0012433	Abnormal social behavior	1213	CLTC	OMIM:617854
HP:0012433	Abnormal social behavior	54902	TTC19	OMIM:615157
HP:0012433	Abnormal social behavior	2290	FOXG1	OMIM:613454
HP:0012433	Abnormal social behavior	4983	OPHN1	ORPHA:137831
HP:0012433	Abnormal social behavior	85358	SHANK3	OMIM:606232
HP:0012433	Abnormal social behavior	6792	CDKL5	ORPHA:3095
HP:0012433	Abnormal social behavior	22854	NTNG1	ORPHA:3095
HP:0012433	Abnormal social behavior	9568	GABBR2	ORPHA:3095
HP:0012433	Abnormal social behavior	4204	MECP2	ORPHA:3095
HP:0012433	Abnormal social behavior	8243	SMC1A	ORPHA:3095
HP:0012433	Abnormal social behavior	1387	CREBBP	ORPHA:353281
HP:0012433	Abnormal social behavior	1387	CREBBP	ORPHA:353277
HP:0012433	Abnormal social behavior	440138	ALG11	ORPHA:280071
HP:0012433	Abnormal social behavior	22871	NLGN1	OMIM:618830
HP:0012433	Abnormal social behavior	25970	SH2B1	ORPHA:329249
HP:0012433	Abnormal social behavior	25970	SH2B1	ORPHA:261197
HP:0012433	Abnormal social behavior	2902	GRIN1	OMIM:617820
HP:0012433	Abnormal social behavior	200424	TET3	OMIM:618798
HP:0012433	Abnormal social behavior	2033	EP300	ORPHA:353284
HP:0012433	Abnormal social behavior	5422	POLA1	ORPHA:163976
HP:0012433	Abnormal social behavior	55777	MBD5	OMIM:156200
HP:0012433	Abnormal social behavior	8925	HERC1	ORPHA:457359
HP:0012433	Abnormal social behavior	2898	GRIK2	OMIM:611092
HP:0012433	Abnormal social behavior	4123	MAN2C1	OMIM:619775
HP:0012433	Abnormal social behavior	2332	FMR1	ORPHA:449291
HP:0012433	Abnormal social behavior	8831	SYNGAP1	ORPHA:544254
HP:0012433	Abnormal social behavior	8831	SYNGAP1	ORPHA:1942
HP:0012433	Abnormal social behavior	5119	CHMP1A	OMIM:614961
HP:0012433	Abnormal social behavior	26047	CNTNAP2	OMIM:610042
HP:0012433	Abnormal social behavior	10352	WARS2	OMIM:619738
HP:0012433	Abnormal social behavior	404672	GTF2H5	ORPHA:33364
HP:0012433	Abnormal social behavior	833	CARS1	ORPHA:33364
HP:0012433	Abnormal social behavior	2068	ERCC2	ORPHA:33364
HP:0012433	Abnormal social behavior	7737	RNF113A	ORPHA:33364
HP:0012433	Abnormal social behavior	136647	MPLKIP	ORPHA:33364
HP:0012433	Abnormal social behavior	6897	TARS1	ORPHA:33364
HP:0012433	Abnormal social behavior	16	AARS1	ORPHA:33364
HP:0012433	Abnormal social behavior	2071	ERCC3	ORPHA:33364
HP:0012433	Abnormal social behavior	2961	GTF2E2	ORPHA:33364
HP:0012433	Abnormal social behavior	10716	TBR1	OMIM:606053
HP:0012433	Abnormal social behavior	1173	AP2M1	ORPHA:1942
HP:0012433	Abnormal social behavior	6323	SCN1A	ORPHA:1942
HP:0012433	Abnormal social behavior	1106	CHD2	ORPHA:1942
HP:0012433	Abnormal social behavior	6529	SLC6A1	ORPHA:1942
HP:0012433	Abnormal social behavior	23096	IQSEC2	ORPHA:397933
HP:0012433	Abnormal social behavior	8398	PLA2G6	OMIM:256600
HP:0012433	Abnormal social behavior	54832	VPS13C	ORPHA:2828
HP:0012433	Abnormal social behavior	11315	PARK7	ORPHA:2828
HP:0012433	Abnormal social behavior	7345	UCHL1	ORPHA:2828
HP:0012433	Abnormal social behavior	27429	HTRA2	ORPHA:2828
HP:0012433	Abnormal social behavior	120892	LRRK2	ORPHA:2828
HP:0012433	Abnormal social behavior	9829	DNAJC6	ORPHA:2828
HP:0012433	Abnormal social behavior	6622	SNCA	ORPHA:2828
HP:0012433	Abnormal social behavior	5420	PODXL	ORPHA:2828
HP:0012433	Abnormal social behavior	65018	PINK1	ORPHA:2828
HP:0012433	Abnormal social behavior	8867	SYNJ1	ORPHA:2828
HP:0012433	Abnormal social behavior	5071	PRKN	ORPHA:2828
HP:0012433	Abnormal social behavior	4763	NF1	ORPHA:97685
HP:0012433	Abnormal social behavior	23230	VPS13A	ORPHA:2388
HP:0012433	Abnormal social behavior	6595	SMARCA2	OMIM:619293
HP:0012433	Abnormal social behavior	5283	PIGH	OMIM:618010
HP:0012433	Abnormal social behavior	283489	CHAMP1	OMIM:616579
HP:0012433	Abnormal social behavior	83479	DDX59	OMIM:174300
HP:0012433	Abnormal social behavior	23524	SRRM2	OMIM:620439
HP:0012433	Abnormal social behavior	23389	MED13L	ORPHA:369891
HP:0012433	Abnormal social behavior	1974	EIF4A2	OMIM:620455
HP:0012433	Abnormal social behavior	391356	PTRHD1	OMIM:620747
HP:0012433	Abnormal social behavior	540	ATP7B	ORPHA:905
HP:0012433	Abnormal social behavior	9881	TRANK1	ORPHA:33543
HP:0012433	Abnormal social behavior	6999	TDO2	OMIM:600627
HP:0012433	Abnormal social behavior	2896	GRN	OMIM:607485
HP:0012434	Delayed early-childhood social milestone development	11113	CIT	OMIM:617090
HP:0012434	Delayed early-childhood social milestone development	80856	LNPK	OMIM:618090
HP:0012434	Delayed early-childhood social milestone development	9227	LRAT	ORPHA:364055
HP:0012434	Delayed early-childhood social milestone development	55812	SPATA7	ORPHA:364055
HP:0012434	Delayed early-childhood social milestone development	6121	RPE65	ORPHA:364055
HP:0012434	Delayed early-childhood social milestone development	167691	LCA5	ORPHA:364055
HP:0012434	Delayed early-childhood social milestone development	51645	PPIL1	OMIM:619301
HP:0012434	Delayed early-childhood social milestone development	57511	COG6	ORPHA:363523
HP:0012434	Delayed early-childhood social milestone development	8812	CCNK	OMIM:618147
HP:0012434	Delayed early-childhood social milestone development	51362	CDC40	OMIM:619302
HP:0012434	Delayed early-childhood social milestone development	1496	CTNNA2	OMIM:618174
HP:0012434	Delayed early-childhood social milestone development	57231	SNX14	OMIM:616354
HP:0012434	Delayed early-childhood social milestone development	8913	CACNA1G	OMIM:618087
HP:0012434	Delayed early-childhood social milestone development	160418	TMTC3	OMIM:617255
HP:0012434	Delayed early-childhood social milestone development	6833	ABCC8	OMIM:618857
HP:0012434	Delayed early-childhood social milestone development	10381	TUBB3	ORPHA:300570
HP:0012434	Delayed early-childhood social milestone development	93986	FOXP2	ORPHA:209908
HP:0012434	Delayed early-childhood social milestone development	10297	APC2	OMIM:618677
HP:0012434	Delayed early-childhood social milestone development	79971	WLS	OMIM:619648
HP:0012434	Delayed early-childhood social milestone development	271	AMPD2	OMIM:615809
HP:0012434	Delayed early-childhood social milestone development	3708	ITPR1	ORPHA:208513
HP:0012435	Ventral shortening of foreskin	10046	MAMLD1	ORPHA:95706
HP:0012435	Ventral shortening of foreskin	367	AR	ORPHA:95706
HP:0012437	Abnormal gallbladder morphology	3043	HBB	ORPHA:232
HP:0012437	Abnormal gallbladder morphology	3043	HBB	ORPHA:231222
HP:0012437	Abnormal gallbladder morphology	3043	HBB	OMIM:603903
HP:0012437	Abnormal gallbladder morphology	27183	VPS4A	OMIM:619273
HP:0012437	Abnormal gallbladder morphology	2235	FECH	OMIM:177000
HP:0012437	Abnormal gallbladder morphology	2235	FECH	ORPHA:79278
HP:0012437	Abnormal gallbladder morphology	57003	CCDC47	OMIM:618268
HP:0012437	Abnormal gallbladder morphology	212	ALAS2	OMIM:300752
HP:0012437	Abnormal gallbladder morphology	1593	CYP27A1	ORPHA:909
HP:0012437	Abnormal gallbladder morphology	1593	CYP27A1	OMIM:213700
HP:0012437	Abnormal gallbladder morphology	7167	TPI1	OMIM:615512
HP:0012437	Abnormal gallbladder morphology	6804	STX1A	ORPHA:904
HP:0012437	Abnormal gallbladder morphology	7461	CLIP2	ORPHA:904
HP:0012437	Abnormal gallbladder morphology	84277	DNAJC30	ORPHA:904
HP:0012437	Abnormal gallbladder morphology	8468	FKBP6	ORPHA:904
HP:0012437	Abnormal gallbladder morphology	5982	RFC2	ORPHA:904
HP:0012437	Abnormal gallbladder morphology	2969	GTF2I	ORPHA:904
HP:0012437	Abnormal gallbladder morphology	3984	LIMK1	ORPHA:904
HP:0012437	Abnormal gallbladder morphology	9569	GTF2IRD1	ORPHA:904
HP:0012437	Abnormal gallbladder morphology	155382	VPS37D	ORPHA:904
HP:0012437	Abnormal gallbladder morphology	155368	METTL27	ORPHA:904
HP:0012437	Abnormal gallbladder morphology	114049	BUD23	ORPHA:904
HP:0012437	Abnormal gallbladder morphology	7458	EIF4H	ORPHA:904
HP:0012437	Abnormal gallbladder morphology	84163	GTF2IRD2	ORPHA:904
HP:0012437	Abnormal gallbladder morphology	26608	TBL2	ORPHA:904
HP:0012437	Abnormal gallbladder morphology	653361	NCF1	ORPHA:904
HP:0012437	Abnormal gallbladder morphology	135886	TMEM270	ORPHA:904
HP:0012437	Abnormal gallbladder morphology	9031	BAZ1B	ORPHA:904
HP:0012437	Abnormal gallbladder morphology	2006	ELN	ORPHA:904
HP:0012437	Abnormal gallbladder morphology	5205	ATP8B1	OMIM:211600
HP:0012437	Abnormal gallbladder morphology	9780	PIEZO1	OMIM:194380
HP:0012437	Abnormal gallbladder morphology	9780	PIEZO1	ORPHA:3202
HP:0012437	Abnormal gallbladder morphology	5314	PKHD1	ORPHA:53035
HP:0012437	Abnormal gallbladder morphology	286	ANK1	OMIM:182900
HP:0012437	Abnormal gallbladder morphology	286	ANK1	ORPHA:822
HP:0012437	Abnormal gallbladder morphology	2038	EPB42	ORPHA:822
HP:0012437	Abnormal gallbladder morphology	6521	SLC4A1	ORPHA:822
HP:0012437	Abnormal gallbladder morphology	6521	SLC4A1	ORPHA:3202
HP:0012437	Abnormal gallbladder morphology	6710	SPTB	ORPHA:822
HP:0012437	Abnormal gallbladder morphology	6710	SPTB	ORPHA:288
HP:0012437	Abnormal gallbladder morphology	6708	SPTA1	ORPHA:822
HP:0012437	Abnormal gallbladder morphology	6708	SPTA1	ORPHA:288
HP:0012437	Abnormal gallbladder morphology	6340	SCNN1G	ORPHA:171876
HP:0012437	Abnormal gallbladder morphology	6337	SCNN1A	ORPHA:171876
HP:0012437	Abnormal gallbladder morphology	6338	SCNN1B	ORPHA:171876
HP:0012437	Abnormal gallbladder morphology	5244	ABCB4	ORPHA:69663
HP:0012437	Abnormal gallbladder morphology	5244	ABCB4	OMIM:600803
HP:0012437	Abnormal gallbladder morphology	2642	GCGR	ORPHA:438274
HP:0012437	Abnormal gallbladder morphology	10483	SEC23B	OMIM:224100
HP:0012437	Abnormal gallbladder morphology	3098	HK1	OMIM:235700
HP:0012437	Abnormal gallbladder morphology	644	BLVRA	OMIM:614156
HP:0012437	Abnormal gallbladder morphology	226	ALDOA	OMIM:611881
HP:0012437	Abnormal gallbladder morphology	23600	AMACR	ORPHA:79095
HP:0012437	Abnormal gallbladder morphology	1760	DMPK	OMIM:160900
HP:0012437	Abnormal gallbladder morphology	7030	TFE3	OMIM:301066
HP:0012437	Abnormal gallbladder morphology	6609	SMPD1	ORPHA:77293
HP:0012437	Abnormal gallbladder morphology	8242	KDM5C	OMIM:300534
HP:0012437	Abnormal gallbladder morphology	7390	UROS	OMIM:263700
HP:0012437	Abnormal gallbladder morphology	2859	GPR35	ORPHA:171
HP:0012437	Abnormal gallbladder morphology	10507	SEMA4D	ORPHA:171
HP:0012437	Abnormal gallbladder morphology	4485	MST1	ORPHA:171
HP:0012437	Abnormal gallbladder morphology	6925	TCF4	ORPHA:171
HP:0012437	Abnormal gallbladder morphology	326	AIRE	OMIM:240300
HP:0012437	Abnormal gallbladder morphology	2629	GBA1	ORPHA:2072
HP:0012437	Abnormal gallbladder morphology	2629	GBA1	ORPHA:77259
HP:0012437	Abnormal gallbladder morphology	2821	GPI	OMIM:613470
HP:0012437	Abnormal gallbladder morphology	4358	MPV17	OMIM:256810
HP:0012437	Abnormal gallbladder morphology	5213	PFKM	OMIM:232800
HP:0012437	Abnormal gallbladder morphology	81857	MED25	ORPHA:464738
HP:0012437	Abnormal gallbladder morphology	54148	MRPL39	OMIM:620646
HP:0012437	Abnormal gallbladder morphology	5824	PEX19	OMIM:614886
HP:0012437	Abnormal gallbladder morphology	10020	GNE	ORPHA:3166
HP:0012437	Abnormal gallbladder morphology	1312	COMT	ORPHA:567
HP:0012437	Abnormal gallbladder morphology	221037	JMJD1C	ORPHA:567
HP:0012437	Abnormal gallbladder morphology	2812	GP1BB	ORPHA:567
HP:0012437	Abnormal gallbladder morphology	6239	RREB1	ORPHA:567
HP:0012437	Abnormal gallbladder morphology	6899	TBX1	ORPHA:567
HP:0012437	Abnormal gallbladder morphology	6899	TBX1	OMIM:188400
HP:0012437	Abnormal gallbladder morphology	7290	HIRA	ORPHA:567
HP:0012437	Abnormal gallbladder morphology	9632	SEC24C	ORPHA:567
HP:0012437	Abnormal gallbladder morphology	7353	UFD1	ORPHA:567
HP:0012437	Abnormal gallbladder morphology	421	ARVCF	ORPHA:567
HP:0012437	Abnormal gallbladder morphology	3783	KCNN4	ORPHA:3202
HP:0012437	Abnormal gallbladder morphology	83550	GPR101	ORPHA:963
HP:0012437	Abnormal gallbladder morphology	9049	AIP	ORPHA:963
HP:0012437	Abnormal gallbladder morphology	2035	EPB41	ORPHA:288
HP:0012437	Abnormal gallbladder morphology	2995	GYPC	ORPHA:288
HP:0012437	Abnormal gallbladder morphology	5313	PKLR	OMIM:266200
HP:0012437	Abnormal gallbladder morphology	171023	ASXL1	ORPHA:97297
HP:0012437	Abnormal gallbladder morphology	8647	ABCB11	OMIM:605479
HP:0012437	Abnormal gallbladder morphology	7386	UQCRFS1	OMIM:618775
HP:0012437	Abnormal gallbladder morphology	64241	ABCG8	OMIM:611465
HP:0012437	Abnormal gallbladder morphology	3708	ITPR1	OMIM:206700
HP:0012437	Abnormal gallbladder morphology	950	SCARB2	ORPHA:77259
HP:0012437	Abnormal gallbladder morphology	145173	B3GLCT	OMIM:261540
HP:0012437	Abnormal gallbladder morphology	6309	SC5D	OMIM:607330
HP:0012437	Abnormal gallbladder morphology	2627	GATA6	ORPHA:2255
HP:0012437	Abnormal gallbladder morphology	2294	FOXF1	ORPHA:210122
HP:0012437	Abnormal gallbladder morphology	23019	CNOT1	ORPHA:556955
HP:0012437	Abnormal gallbladder morphology	23019	CNOT1	OMIM:618500
HP:0012437	Abnormal gallbladder morphology	6651	SON	OMIM:617140
HP:0012437	Abnormal gallbladder morphology	6651	SON	ORPHA:500150
HP:0012437	Abnormal gallbladder morphology	57545	CC2D2A	OMIM:612284
HP:0012437	Abnormal gallbladder morphology	222546	RFX6	OMIM:615710
HP:0012437	Abnormal gallbladder morphology	27152	INTU	OMIM:617925
HP:0012437	Abnormal gallbladder morphology	1581	CYP7A1	ORPHA:209902
HP:0012437	Abnormal gallbladder morphology	3081	HGD	ORPHA:56
HP:0012437	Abnormal gallbladder morphology	410	ARSA	ORPHA:309271
HP:0012437	Abnormal gallbladder morphology	5660	PSAP	ORPHA:309271
HP:0012438	Abnormal gallbladder physiology	410	ARSA	ORPHA:309271
HP:0012438	Abnormal gallbladder physiology	410	ARSA	ORPHA:309256
HP:0012438	Abnormal gallbladder physiology	410	ARSA	ORPHA:309263
HP:0012438	Abnormal gallbladder physiology	410	ARSA	OMIM:250100
HP:0012438	Abnormal gallbladder physiology	5660	PSAP	ORPHA:309271
HP:0012438	Abnormal gallbladder physiology	5660	PSAP	ORPHA:309256
HP:0012438	Abnormal gallbladder physiology	5660	PSAP	ORPHA:309263
HP:0012438	Abnormal gallbladder physiology	7030	TFE3	OMIM:301066
HP:0012438	Abnormal gallbladder physiology	811	CALR	ORPHA:131
HP:0012438	Abnormal gallbladder physiology	3717	JAK2	ORPHA:131
HP:0012438	Abnormal gallbladder physiology	2153	F5	ORPHA:131
HP:0012438	Abnormal gallbladder physiology	2821	GPI	OMIM:613470
HP:0012438	Abnormal gallbladder physiology	7167	TPI1	OMIM:615512
HP:0012438	Abnormal gallbladder physiology	57104	PNPLA2	ORPHA:98908
HP:0012438	Abnormal gallbladder physiology	25913	POT1	OMIM:620367
HP:0012438	Abnormal gallbladder physiology	3514	IGKC	ORPHA:183675
HP:0012438	Abnormal gallbladder physiology	3501	IGHG2	ORPHA:183675
HP:0012438	Abnormal gallbladder physiology	5313	PKLR	OMIM:266200
HP:0012438	Abnormal gallbladder physiology	5244	ABCB4	ORPHA:69663
HP:0012438	Abnormal gallbladder physiology	5244	ABCB4	OMIM:600803
HP:0012438	Abnormal gallbladder physiology	5244	ABCB4	ORPHA:69665
HP:0012438	Abnormal gallbladder physiology	5205	ATP8B1	ORPHA:69665
HP:0012438	Abnormal gallbladder physiology	8647	ABCB11	ORPHA:69665
HP:0012438	Abnormal gallbladder physiology	9971	NR1H4	ORPHA:69665
HP:0012438	Abnormal gallbladder physiology	3098	HK1	OMIM:235700
HP:0012438	Abnormal gallbladder physiology	226	ALDOA	OMIM:611881
HP:0012438	Abnormal gallbladder physiology	4204	MECP2	ORPHA:778
HP:0007281	Developmental stagnation	6304	SATB1	OMIM:619229
HP:0007281	Developmental stagnation	8869	ST3GAL5	OMIM:609056
HP:0007281	Developmental stagnation	23636	NUP62	OMIM:271930
HP:0007281	Developmental stagnation	6792	CDKL5	ORPHA:3095
HP:0007281	Developmental stagnation	22854	NTNG1	ORPHA:3095
HP:0007281	Developmental stagnation	9568	GABBR2	ORPHA:3095
HP:0007281	Developmental stagnation	9568	GABBR2	OMIM:617903
HP:0007281	Developmental stagnation	4204	MECP2	ORPHA:3095
HP:0007281	Developmental stagnation	8243	SMC1A	ORPHA:3095
HP:0007281	Developmental stagnation	176	ACAN	ORPHA:435804
HP:0007281	Developmental stagnation	6324	SCN1B	OMIM:617350
HP:0007281	Developmental stagnation	9326	ZNHIT3	OMIM:260565
HP:0007281	Developmental stagnation	55331	ACER3	OMIM:617762
HP:0007281	Developmental stagnation	25930	PTPN23	OMIM:618890
HP:0007281	Developmental stagnation	55823	VPS11	OMIM:616683
HP:0007281	Developmental stagnation	5917	RARS1	ORPHA:438114
HP:0007281	Developmental stagnation	2720	GLB1	OMIM:230600
HP:0007281	Developmental stagnation	5430	POLR2A	OMIM:618603
HP:0007281	Developmental stagnation	26227	PHGDH	ORPHA:79351
HP:0007281	Developmental stagnation	57192	MCOLN1	ORPHA:578
HP:0007281	Developmental stagnation	57192	MCOLN1	OMIM:252650
HP:0007281	Developmental stagnation	6050	RNH1	OMIM:620461
HP:0007131	Acute demyelinating polyneuropathy	5376	PMP22	OMIM:139393
HP:0007131	Acute demyelinating polyneuropathy	5376	PMP22	ORPHA:98916
HP:0007131	Acute demyelinating polyneuropathy	5376	PMP22	ORPHA:3115
HP:0007131	Acute demyelinating polyneuropathy	5376	PMP22	ORPHA:101081
HP:0007131	Acute demyelinating polyneuropathy	4359	MPZ	ORPHA:3115
HP:0007132	Pallidal degeneration	2639	GCDH	ORPHA:25
HP:0007133	Progressive peripheral neuropathy	410	ARSA	ORPHA:309271
HP:0007133	Progressive peripheral neuropathy	410	ARSA	ORPHA:309263
HP:0007133	Progressive peripheral neuropathy	410	ARSA	ORPHA:309256
HP:0007133	Progressive peripheral neuropathy	410	ARSA	OMIM:250100
HP:0007133	Progressive peripheral neuropathy	5660	PSAP	ORPHA:309271
HP:0007133	Progressive peripheral neuropathy	5660	PSAP	ORPHA:309263
HP:0007133	Progressive peripheral neuropathy	5660	PSAP	ORPHA:309256
HP:0007133	Progressive peripheral neuropathy	84334	COA8	ORPHA:436271
HP:0007133	Progressive peripheral neuropathy	1130	LYST	OMIM:214500
HP:0007133	Progressive peripheral neuropathy	19	ABCA1	ORPHA:31150
HP:0007266	Cerebral dysmyelination	1513	CTSK	ORPHA:763
HP:0007266	Cerebral dysmyelination	9289	ADGRG1	OMIM:606854
HP:0007266	Cerebral dysmyelination	9289	ADGRG1	ORPHA:101070
HP:0007266	Cerebral dysmyelination	5354	PLP1	OMIM:312080
HP:0007266	Cerebral dysmyelination	215	ABCD1	ORPHA:139399
HP:0007266	Cerebral dysmyelination	26227	PHGDH	OMIM:601815
HP:0007266	Cerebral dysmyelination	3295	HSD17B4	OMIM:261515
HP:0007266	Cerebral dysmyelination	5660	PSAP	OMIM:611722
HP:0007266	Cerebral dysmyelination	404672	GTF2H5	ORPHA:33364
HP:0007266	Cerebral dysmyelination	833	CARS1	ORPHA:33364
HP:0007266	Cerebral dysmyelination	2068	ERCC2	ORPHA:33364
HP:0007266	Cerebral dysmyelination	7737	RNF113A	ORPHA:33364
HP:0007266	Cerebral dysmyelination	136647	MPLKIP	ORPHA:33364
HP:0007266	Cerebral dysmyelination	6897	TARS1	ORPHA:33364
HP:0007266	Cerebral dysmyelination	16	AARS1	ORPHA:33364
HP:0007266	Cerebral dysmyelination	2071	ERCC3	ORPHA:33364
HP:0007266	Cerebral dysmyelination	2961	GTF2E2	ORPHA:33364
HP:0007266	Cerebral dysmyelination	6663	SOX10	OMIM:609136
HP:0007266	Cerebral dysmyelination	5728	PTEN	ORPHA:101070
HP:0007266	Cerebral dysmyelination	57192	MCOLN1	OMIM:252650
HP:0002398	Degeneration of anterior horn cells	23064	SETX	OMIM:602433
HP:0002398	Degeneration of anterior horn cells	427	ASAH1	OMIM:159950
HP:0002398	Degeneration of anterior horn cells	7317	UBA1	OMIM:301830
HP:0002398	Degeneration of anterior horn cells	7317	UBA1	ORPHA:1145
HP:0002398	Degeneration of anterior horn cells	65250	CPLANE1	ORPHA:65684
HP:0002398	Degeneration of anterior horn cells	57562	CEP126	ORPHA:65684
HP:0002398	Degeneration of anterior horn cells	6606	SMN1	OMIM:253550
HP:0002398	Degeneration of anterior horn cells	6606	SMN1	OMIM:271150
HP:0002398	Degeneration of anterior horn cells	6606	SMN1	OMIM:253400
HP:0002398	Degeneration of anterior horn cells	11340	EXOSC8	ORPHA:2254
HP:0002398	Degeneration of anterior horn cells	5393	EXOSC9	ORPHA:2254
HP:0002398	Degeneration of anterior horn cells	23287	AGTPBP1	ORPHA:2254
HP:0002398	Degeneration of anterior horn cells	51010	EXOSC3	ORPHA:2254
HP:0002398	Degeneration of anterior horn cells	7443	VRK1	ORPHA:2254
HP:0002398	Degeneration of anterior horn cells	7443	VRK1	OMIM:607596
HP:0002398	Degeneration of anterior horn cells	91137	SLC25A46	ORPHA:2254
HP:0002398	Degeneration of anterior horn cells	10342	TFG	OMIM:604484
HP:0002398	Degeneration of anterior horn cells	6647	SOD1	OMIM:105400
HP:0002398	Degeneration of anterior horn cells	5630	PRPH	OMIM:105400
HP:0002398	Degeneration of anterior horn cells	1639	DCTN1	OMIM:105400
HP:0002398	Degeneration of anterior horn cells	4744	NEFH	OMIM:105400
HP:0002398	Degeneration of anterior horn cells	311	ANXA11	OMIM:617839
HP:0002398	Degeneration of anterior horn cells	4287	ATXN3	ORPHA:276244
HP:0002398	Degeneration of anterior horn cells	3508	IGHMBP2	OMIM:604320
HP:0002398	Degeneration of anterior horn cells	6607	SMN2	OMIM:253400
HP:0030006	Single fiber EMG abnormality	199857	ALG14	OMIM:616227
HP:0030006	Single fiber EMG abnormality	199857	ALG14	ORPHA:353327
HP:0030006	Single fiber EMG abnormality	1305	COL13A1	OMIM:616720
HP:0030006	Single fiber EMG abnormality	1798	DPAGT1	OMIM:614750
HP:0030006	Single fiber EMG abnormality	1798	DPAGT1	ORPHA:353327
HP:0030006	Single fiber EMG abnormality	60482	SLC5A7	OMIM:158580
HP:0030006	Single fiber EMG abnormality	6576	SLC25A1	OMIM:618197
HP:0030006	Single fiber EMG abnormality	29925	GMPPB	ORPHA:353327
HP:0030006	Single fiber EMG abnormality	2673	GFPT1	ORPHA:353327
HP:0030006	Single fiber EMG abnormality	85365	ALG2	ORPHA:353327
HP:0004373	Focal dystonia	58	ACTA1	ORPHA:97240
HP:0004373	Focal dystonia	10749	KIF1C	ORPHA:397946
HP:0004373	Focal dystonia	10749	KIF1C	OMIM:611302
HP:0004373	Focal dystonia	1291	COL6A1	OMIM:254090
HP:0004373	Focal dystonia	1291	COL6A1	ORPHA:75840
HP:0004373	Focal dystonia	1291	COL6A1	OMIM:158810
HP:0004373	Focal dystonia	55605	KIF21A	ORPHA:45358
HP:0004373	Focal dystonia	347733	TUBB2B	ORPHA:45358
HP:0004373	Focal dystonia	7846	TUBA1A	ORPHA:45358
HP:0004373	Focal dystonia	401	PHOX2A	ORPHA:45358
HP:0004373	Focal dystonia	10381	TUBB3	ORPHA:45358
HP:0004373	Focal dystonia	10381	TUBB3	ORPHA:300570
HP:0004373	Focal dystonia	84570	COL25A1	ORPHA:45358
HP:0004373	Focal dystonia	1303	COL12A1	ORPHA:75840
HP:0004373	Focal dystonia	1292	COL6A2	ORPHA:75840
HP:0004373	Focal dystonia	1292	COL6A2	OMIM:620727
HP:0004373	Focal dystonia	3208	HPCA	ORPHA:99657
HP:0004373	Focal dystonia	3208	HPCA	OMIM:224500
HP:0004373	Focal dystonia	5575	PRKAR1B	OMIM:619680
HP:0004373	Focal dystonia	55187	VPS13D	OMIM:607317
HP:0004373	Focal dystonia	91754	NEK9	OMIM:617022
HP:0004373	Focal dystonia	81790	RNF170	OMIM:619686
HP:0004373	Focal dystonia	387119	CEP85L	OMIM:618873
HP:0004373	Focal dystonia	1644	DDC	OMIM:608643
HP:0004373	Focal dystonia	64221	ROBO3	OMIM:607313
HP:0004373	Focal dystonia	63982	ANO3	ORPHA:420485
HP:0004373	Focal dystonia	63982	ANO3	OMIM:615034
HP:0004373	Focal dystonia	343641	TGM6	OMIM:613908
HP:0004373	Focal dystonia	343641	TGM6	ORPHA:276193
HP:0004373	Focal dystonia	25953	PNKD	OMIM:118800
HP:0004373	Focal dystonia	25953	PNKD	ORPHA:98810
HP:0004373	Focal dystonia	116228	COX20	OMIM:619054
HP:0004373	Focal dystonia	8260	NAA10	OMIM:300855
HP:0004373	Focal dystonia	8260	NAA10	ORPHA:276432
HP:0004373	Focal dystonia	54834	GDAP2	OMIM:618369
HP:0004373	Focal dystonia	23400	ATP13A2	OMIM:606693
HP:0004373	Focal dystonia	7703	PCGF2	OMIM:618371
HP:0004373	Focal dystonia	773	CACNA1A	ORPHA:97
HP:0004373	Focal dystonia	773	CACNA1A	ORPHA:71518
HP:0004373	Focal dystonia	84504	NKX6-2	OMIM:617560
HP:0004373	Focal dystonia	10935	PRDX3	OMIM:619862
HP:0004373	Focal dystonia	2313	FLI1	ORPHA:370348
HP:0004373	Focal dystonia	1267	CNP	OMIM:619071
HP:0004373	Focal dystonia	8558	CDK10	OMIM:617694
HP:0004373	Focal dystonia	6711	SPTBN1	OMIM:619475
HP:0004373	Focal dystonia	7701	ZNF142	OMIM:618425
HP:0004373	Focal dystonia	3098	HK1	OMIM:618547
HP:0004373	Focal dystonia	3748	KCNC3	ORPHA:98768
HP:0004373	Focal dystonia	80036	TRPM3	OMIM:620224
HP:0004373	Focal dystonia	93986	FOXP2	ORPHA:251061
HP:0004373	Focal dystonia	11198	SUPT16H	OMIM:619480
HP:0004373	Focal dystonia	79796	ALG9	ORPHA:79328
HP:0004373	Focal dystonia	78989	COLEC11	OMIM:265050
HP:0004373	Focal dystonia	128240	NAXE	OMIM:617186
HP:0004373	Focal dystonia	4617	MYF5	OMIM:618155
HP:0004373	Focal dystonia	23187	PHLDB1	OMIM:620639
HP:0004373	Focal dystonia	6663	SOX10	OMIM:609136
HP:0004373	Focal dystonia	126792	B3GALT6	ORPHA:536467
HP:0004373	Focal dystonia	2898	GRIK2	OMIM:611092
HP:0004373	Focal dystonia	8831	SYNGAP1	OMIM:612621
HP:0004373	Focal dystonia	256472	TMEM151A	OMIM:620245
HP:0004373	Focal dystonia	3679	ITGA7	OMIM:613204
HP:0004373	Focal dystonia	7042	TGFB2	OMIM:614816
HP:0004373	Focal dystonia	6342	SCP2	OMIM:613724
HP:0004373	Focal dystonia	59341	TRPV4	OMIM:181405
HP:0004373	Focal dystonia	57167	SALL4	ORPHA:233
HP:0004373	Focal dystonia	9935	MAFB	ORPHA:233
HP:0004373	Focal dystonia	1123	CHN1	ORPHA:233
HP:0004373	Focal dystonia	7291	TWIST1	ORPHA:794
HP:0004373	Focal dystonia	2263	FGFR2	ORPHA:794
HP:0004373	Focal dystonia	2261	FGFR3	ORPHA:794
HP:0004373	Focal dystonia	1816	DRD5	OMIM:606798
HP:0004373	Focal dystonia	10815	CPLX1	ORPHA:352582
HP:0004373	Focal dystonia	3339	HSPG2	ORPHA:800
HP:0004373	Focal dystonia	1822	ATN1	ORPHA:101
HP:0004373	Focal dystonia	84172	POLR1B	ORPHA:861
HP:0004373	Focal dystonia	9533	POLR1C	ORPHA:861
HP:0004373	Focal dystonia	51082	POLR1D	ORPHA:861
HP:0004373	Focal dystonia	6949	TCOF1	ORPHA:861
HP:0004373	Focal dystonia	56910	STARD7	OMIM:607876
HP:0004373	Focal dystonia	11315	PARK7	OMIM:606324
HP:0004373	Focal dystonia	1545	CYP1B1	ORPHA:98976
HP:0004373	Focal dystonia	4053	LTBP2	ORPHA:98976
HP:0004373	Focal dystonia	4653	MYOC	ORPHA:98976
HP:0004373	Focal dystonia	7010	TEK	ORPHA:98976
HP:0004373	Focal dystonia	4070	TACSTD2	ORPHA:98957
HP:0004373	Focal dystonia	64601	VPS16	OMIM:619291
HP:0004373	Focal dystonia	5354	PLP1	OMIM:312080
HP:0004373	Focal dystonia	3094	HINT1	ORPHA:324442
HP:0004373	Focal dystonia	57680	CHD8	OMIM:615032
HP:0004373	Focal dystonia	3736	KCNA1	ORPHA:98809
HP:0004373	Focal dystonia	112476	PRRT2	ORPHA:98809
HP:0004373	Focal dystonia	2767	GNA11	ORPHA:428
HP:0004373	Focal dystonia	846	CASR	ORPHA:428
HP:0004373	Focal dystonia	1813	DRD2	ORPHA:36899
HP:0004373	Focal dystonia	8910	SGCE	ORPHA:36899
HP:0004373	Focal dystonia	8910	SGCE	OMIM:159900
HP:0004373	Focal dystonia	79734	KCTD17	ORPHA:36899
HP:0004373	Focal dystonia	1861	TOR1A	ORPHA:36899
HP:0004373	Focal dystonia	1861	TOR1A	OMIM:128100
HP:0004373	Focal dystonia	84909	AOPEP	OMIM:619565
HP:0004373	Focal dystonia	57465	TBC1D24	ORPHA:163727
HP:0004373	Focal dystonia	57465	TBC1D24	OMIM:608105
HP:0004373	Focal dystonia	55145	THAP1	OMIM:602629
HP:0004373	Focal dystonia	3781	KCNN2	OMIM:619724
HP:0004373	Focal dystonia	6908	TBP	ORPHA:98759
HP:0004373	Focal dystonia	25792	CIZ1	ORPHA:420492
HP:0004373	Focal dystonia	1678	TIMM8A	ORPHA:52368
HP:0004373	Focal dystonia	5071	PRKN	OMIM:600116
HP:0004373	Focal dystonia	8398	PLA2G6	ORPHA:199351
HP:0004373	Focal dystonia	2512	FTL	ORPHA:157846
HP:0004373	Focal dystonia	80025	PANK2	ORPHA:216873
HP:0004373	Focal dystonia	3074	HEXB	ORPHA:309169
HP:0004373	Focal dystonia	2643	GCH1	ORPHA:98808
HP:0004373	Focal dystonia	4929	NR4A2	ORPHA:98808
HP:0004373	Focal dystonia	3615	IMPDH2	ORPHA:98808
HP:0004373	Focal dystonia	2774	GNAL	ORPHA:329466
HP:0004373	Focal dystonia	9256	TSPOAP1	OMIM:620456
HP:0004373	Focal dystonia	9256	TSPOAP1	ORPHA:101150
HP:0004373	Focal dystonia	170302	ARX	OMIM:309510
HP:0004373	Focal dystonia	4137	MAPT	ORPHA:240103
HP:0004373	Focal dystonia	1293	COL6A3	ORPHA:464440
HP:0004373	Focal dystonia	7054	TH	ORPHA:101150
HP:0004373	Focal dystonia	5832	ALDH18A1	ORPHA:447757
HP:0004373	Focal dystonia	6872	TAF1	ORPHA:53351
HP:0004373	Focal dystonia	5582	PRKCG	OMIM:605361
HP:0004373	Focal dystonia	80347	COASY	ORPHA:397725
HP:0004373	Focal dystonia	80347	COASY	OMIM:615643
HP:0004373	Focal dystonia	23516	SLC39A14	OMIM:617013
HP:0004373	Focal dystonia	23516	SLC39A14	ORPHA:521406
HP:0004373	Focal dystonia	6531	SLC6A3	OMIM:613135
HP:0004373	Focal dystonia	2521	FUS	ORPHA:300605
HP:0004373	Focal dystonia	80208	SPG11	ORPHA:300605
HP:0004373	Focal dystonia	10280	SIGMAR1	ORPHA:300605
HP:0004373	Focal dystonia	10558	SPTLC1	ORPHA:300605
HP:0004373	Focal dystonia	57679	ALS2	ORPHA:300605
HP:0004373	Focal dystonia	83636	C19orf12	OMIM:614298
HP:0004373	Focal dystonia	9898	UBAP2L	OMIM:620494
HP:0004373	Focal dystonia	25885	POLR1A	OMIM:616462
HP:0004373	Focal dystonia	8575	PRKRA	OMIM:612067
HP:0004373	Focal dystonia	10382	TUBB4A	ORPHA:98805
HP:0004373	Focal dystonia	55823	VPS11	OMIM:619637
HP:0004373	Focal dystonia	2778	GNAS	ORPHA:94089
HP:0004373	Focal dystonia	2778	GNAS	ORPHA:79443
HP:0004373	Focal dystonia	2778	GNAS	ORPHA:79444
HP:0004373	Focal dystonia	8675	STX16	ORPHA:94089
HP:0004373	Focal dystonia	9757	KMT2B	OMIM:617284
HP:0004373	Focal dystonia	518	ATP5MC3	OMIM:619681
HP:0004373	Focal dystonia	23230	VPS13A	ORPHA:2388
HP:0004373	Focal dystonia	16	AARS1	OMIM:619691
HP:0004373	Focal dystonia	51102	MECR	OMIM:617282
HP:0004373	Focal dystonia	51102	MECR	ORPHA:508093
HP:0004373	Focal dystonia	55697	VAC14	OMIM:617054
HP:0004373	Focal dystonia	4700	NDUFA6	OMIM:618253
HP:0004373	Focal dystonia	478	ATP1A3	ORPHA:71517
HP:0004373	Focal dystonia	1356	CP	ORPHA:48818
HP:0004373	Focal dystonia	80704	SLC19A3	OMIM:607483
HP:0004373	Focal dystonia	65055	REEP1	OMIM:620011
HP:0004373	Focal dystonia	55768	NGLY1	ORPHA:404454
HP:0012440	Abnormal biliary tract morphology	5828	PEX2	OMIM:614866
HP:0012440	Abnormal biliary tract morphology	5830	PEX5	OMIM:214110
HP:0012440	Abnormal biliary tract morphology	5189	PEX1	OMIM:214100
HP:0012440	Abnormal biliary tract morphology	9968	MED12	OMIM:301068
HP:0012440	Abnormal biliary tract morphology	9076	CLDN1	OMIM:607626
HP:0012440	Abnormal biliary tract morphology	51473	DCDC2	OMIM:617394
HP:0012440	Abnormal biliary tract morphology	51473	DCDC2	OMIM:616217
HP:0012440	Abnormal biliary tract morphology	79989	IFT56	OMIM:619534
HP:0012440	Abnormal biliary tract morphology	57545	CC2D2A	OMIM:612284
HP:0012440	Abnormal biliary tract morphology	125988	MICOS13	OMIM:618329
HP:0012440	Abnormal biliary tract morphology	80184	CEP290	OMIM:611134
HP:0012440	Abnormal biliary tract morphology	57539	WDR35	OMIM:613610
HP:0012440	Abnormal biliary tract morphology	3295	HSD17B4	OMIM:261515
HP:0012440	Abnormal biliary tract morphology	91147	TMEM67	OMIM:610688
HP:0012440	Abnormal biliary tract morphology	91147	TMEM67	OMIM:607361
HP:0012440	Abnormal biliary tract morphology	9420	CYP7B1	OMIM:613812
HP:0012440	Abnormal biliary tract morphology	9420	CYP7B1	ORPHA:79302
HP:0012440	Abnormal biliary tract morphology	10056	FARSB	OMIM:613658
HP:0012440	Abnormal biliary tract morphology	5428	POLG	OMIM:203700
HP:0012440	Abnormal biliary tract morphology	5244	ABCB4	OMIM:602347
HP:0012440	Abnormal biliary tract morphology	5244	ABCB4	OMIM:600803
HP:0012440	Abnormal biliary tract morphology	54903	MKS1	OMIM:249000
HP:0012440	Abnormal biliary tract morphology	113220	KIF12	OMIM:619662
HP:0012440	Abnormal biliary tract morphology	23322	RPGRIP1L	OMIM:611561
HP:0012440	Abnormal biliary tract morphology	5261	PHKG2	OMIM:613027
HP:0012440	Abnormal biliary tract morphology	2542	SLC37A4	OMIM:619525
HP:0012440	Abnormal biliary tract morphology	51259	TMEM216	OMIM:603194
HP:0012440	Abnormal biliary tract morphology	1080	CFTR	OMIM:219700
HP:0012440	Abnormal biliary tract morphology	2212	FCGR2A	OMIM:219700
HP:0012440	Abnormal biliary tract morphology	7040	TGFB1	OMIM:219700
HP:0012440	Abnormal biliary tract morphology	3594	IL12RB1	ORPHA:186
HP:0012440	Abnormal biliary tract morphology	23534	TNPO3	ORPHA:186
HP:0012440	Abnormal biliary tract morphology	3592	IL12A	ORPHA:186
HP:0012440	Abnormal biliary tract morphology	6689	SPIB	ORPHA:186
HP:0012440	Abnormal biliary tract morphology	5450	POU2AF1	ORPHA:186
HP:0012440	Abnormal biliary tract morphology	9966	TNFSF15	ORPHA:186
HP:0012440	Abnormal biliary tract morphology	79258	MMEL1	ORPHA:186
HP:0012440	Abnormal biliary tract morphology	3663	IRF5	ORPHA:186
HP:0012440	Abnormal biliary tract morphology	3930	LBR	OMIM:613471
HP:0012440	Abnormal biliary tract morphology	3875	KRT18	OMIM:215600
HP:0012440	Abnormal biliary tract morphology	6811	STX5	OMIM:620454
HP:0012440	Abnormal biliary tract morphology	5314	PKHD1	ORPHA:53035
HP:0012440	Abnormal biliary tract morphology	2629	GBA1	ORPHA:77259
HP:0012440	Abnormal biliary tract morphology	950	SCARB2	ORPHA:77259
HP:0012440	Abnormal biliary tract morphology	9361	LONP1	ORPHA:1458
HP:0012440	Abnormal biliary tract morphology	56623	INPP5E	ORPHA:1454
HP:0012440	Abnormal biliary tract morphology	26123	TCTN3	OMIM:614815
HP:0012440	Abnormal biliary tract morphology	26276	VPS33B	OMIM:208085
HP:0012440	Abnormal biliary tract morphology	2627	GATA6	OMIM:600001
HP:0012440	Abnormal biliary tract morphology	2627	GATA6	ORPHA:2255
HP:0012440	Abnormal biliary tract morphology	222546	RFX6	OMIM:615710
HP:0012440	Abnormal biliary tract morphology	7547	ZIC3	OMIM:306955
HP:0012440	Abnormal biliary tract morphology	2072	ERCC4	OMIM:615272
HP:0012440	Abnormal biliary tract morphology	199221	DZIP1L	ORPHA:731
HP:0012440	Abnormal biliary tract morphology	54914	FOCAD	OMIM:619991
HP:0012440	Abnormal biliary tract morphology	182	JAG1	OMIM:118450
HP:0012440	Abnormal biliary tract morphology	55788	LMBRD1	ORPHA:79284
HP:0012440	Abnormal biliary tract morphology	5195	PEX14	OMIM:614887
HP:0012440	Abnormal biliary tract morphology	4000	LMNA	ORPHA:363618
HP:0012440	Abnormal biliary tract morphology	6718	AKR1D1	ORPHA:79303
HP:0012440	Abnormal biliary tract morphology	27031	NPHP3	ORPHA:3032
HP:0012440	Abnormal biliary tract morphology	2642	GCGR	ORPHA:438274
HP:0012440	Abnormal biliary tract morphology	2859	GPR35	ORPHA:171
HP:0012440	Abnormal biliary tract morphology	10507	SEMA4D	ORPHA:171
HP:0012440	Abnormal biliary tract morphology	4485	MST1	ORPHA:171
HP:0012440	Abnormal biliary tract morphology	6925	TCF4	ORPHA:171
HP:0012440	Abnormal biliary tract morphology	215	ABCD1	ORPHA:369942
HP:0012440	Abnormal biliary tract morphology	10134	BCAP31	ORPHA:369942
HP:0012440	Abnormal biliary tract morphology	331	XIAP	ORPHA:538934
HP:0012440	Abnormal biliary tract morphology	5966	REL	OMIM:619652
HP:0012440	Abnormal biliary tract morphology	9742	IFT140	OMIM:266920
HP:0012440	Abnormal biliary tract morphology	4261	CIITA	OMIM:209920
HP:0012440	Abnormal biliary tract morphology	50615	IL21R	OMIM:615207
HP:0012440	Abnormal biliary tract morphology	26525	IL36RN	OMIM:614204
HP:0012440	Abnormal biliary tract morphology	83737	ITCH	ORPHA:228426
HP:0012440	Abnormal biliary tract morphology	617	BCS1L	OMIM:124000
HP:0012440	Abnormal biliary tract morphology	3514	IGKC	ORPHA:183675
HP:0012440	Abnormal biliary tract morphology	3501	IGHG2	ORPHA:183675
HP:0012440	Abnormal biliary tract morphology	654	BMP6	ORPHA:465508
HP:0012440	Abnormal biliary tract morphology	3077	HFE	ORPHA:465508
HP:0012440	Abnormal biliary tract morphology	5604	MAP2K1	ORPHA:389
HP:0012440	Abnormal biliary tract morphology	4893	NRAS	ORPHA:389
HP:0012440	Abnormal biliary tract morphology	673	BRAF	ORPHA:389
HP:0012440	Abnormal biliary tract morphology	81704	DOCK8	OMIM:243700
HP:0012440	Abnormal biliary tract morphology	5994	RFXAP	ORPHA:572
HP:0012440	Abnormal biliary tract morphology	5993	RFX5	ORPHA:572
HP:0012440	Abnormal biliary tract morphology	8625	RFXANK	ORPHA:572
HP:0012440	Abnormal biliary tract morphology	8625	RFXANK	OMIM:620815
HP:0012440	Abnormal biliary tract morphology	959	CD40LG	OMIM:308230
HP:0012440	Abnormal biliary tract morphology	57728	WDR19	OMIM:614377
HP:0012440	Abnormal biliary tract morphology	57728	WDR19	OMIM:616307
HP:0012440	Abnormal biliary tract morphology	9371	KIF3B	OMIM:618955
HP:0012440	Abnormal biliary tract morphology	84936	ZFYVE19	OMIM:619849
HP:0012440	Abnormal biliary tract morphology	6794	STK11	OMIM:175200
HP:0012440	Abnormal biliary tract morphology	672	BRCA1	ORPHA:70567
HP:0012440	Abnormal biliary tract morphology	675	BRCA2	ORPHA:70567
HP:0012440	Abnormal biliary tract morphology	5774	PTPN3	ORPHA:70567
HP:0012440	Abnormal biliary tract morphology	6098	ROS1	ORPHA:70567
HP:0012440	Abnormal biliary tract morphology	54894	RNF43	ORPHA:157798
HP:0012440	Abnormal biliary tract morphology	410	ARSA	ORPHA:309271
HP:0012440	Abnormal biliary tract morphology	5660	PSAP	ORPHA:309271
HP:0012440	Abnormal biliary tract morphology	5297	PI4KA	ORPHA:436252
HP:0012440	Abnormal biliary tract morphology	57217	TTC7A	ORPHA:436252
HP:0012440	Abnormal biliary tract morphology	11198	SUPT16H	OMIM:619480
HP:0012440	Abnormal biliary tract morphology	8239	USP9X	ORPHA:480880
HP:0012443	Abnormal brain morphology	1718	DHCR24	OMIM:602398
HP:0012443	Abnormal brain morphology	1718	DHCR24	ORPHA:35107
HP:0012443	Abnormal brain morphology	29899	GPSM2	OMIM:604213
HP:0012443	Abnormal brain morphology	26235	FBXL4	OMIM:615471
HP:0012443	Abnormal brain morphology	51256	TBC1D7	OMIM:248000
HP:0012443	Abnormal brain morphology	8294	H4C9	OMIM:619951
HP:0012443	Abnormal brain morphology	6873	TAF2	OMIM:615599
HP:0012443	Abnormal brain morphology	6873	TAF2	ORPHA:397951
HP:0012443	Abnormal brain morphology	4897	NRCAM	OMIM:619833
HP:0012443	Abnormal brain morphology	1630	DCC	OMIM:617542
HP:0012443	Abnormal brain morphology	4867	NPHP1	ORPHA:220497
HP:0012443	Abnormal brain morphology	23426	GRIP1	OMIM:617667
HP:0012443	Abnormal brain morphology	2670	GFAP	OMIM:203450
HP:0012443	Abnormal brain morphology	2670	GFAP	ORPHA:363717
HP:0012443	Abnormal brain morphology	54806	AHI1	ORPHA:220493
HP:0012443	Abnormal brain morphology	54806	AHI1	ORPHA:475
HP:0012443	Abnormal brain morphology	56623	INPP5E	ORPHA:220493
HP:0012443	Abnormal brain morphology	56623	INPP5E	ORPHA:475
HP:0012443	Abnormal brain morphology	56623	INPP5E	ORPHA:1454
HP:0012443	Abnormal brain morphology	153241	CEP120	ORPHA:220493
HP:0012443	Abnormal brain morphology	153241	CEP120	ORPHA:475
HP:0012443	Abnormal brain morphology	95681	CEP41	ORPHA:220493
HP:0012443	Abnormal brain morphology	95681	CEP41	ORPHA:475
HP:0012443	Abnormal brain morphology	5728	PTEN	ORPHA:2969
HP:0012443	Abnormal brain morphology	5728	PTEN	ORPHA:65285
HP:0012443	Abnormal brain morphology	55650	PIGV	OMIM:239300
HP:0012443	Abnormal brain morphology	25885	POLR1A	OMIM:616462
HP:0012443	Abnormal brain morphology	4853	NOTCH2	OMIM:102500
HP:0012443	Abnormal brain morphology	4853	NOTCH2	ORPHA:955
HP:0012443	Abnormal brain morphology	56172	ANKH	OMIM:123000
HP:0012443	Abnormal brain morphology	9968	MED12	ORPHA:93932
HP:0012443	Abnormal brain morphology	9968	MED12	OMIM:305450
HP:0012443	Abnormal brain morphology	9326	ZNHIT3	ORPHA:2836
HP:0012443	Abnormal brain morphology	3339	HSPG2	ORPHA:1865
HP:0012443	Abnormal brain morphology	9401	RECQL4	OMIM:218600
HP:0012443	Abnormal brain morphology	5528	PPP2R5D	OMIM:616355
HP:0012443	Abnormal brain morphology	8036	SHOC2	ORPHA:2701
HP:0012443	Abnormal brain morphology	5500	PPP1CB	ORPHA:2701
HP:0012443	Abnormal brain morphology	3039	HBA1	ORPHA:163596
HP:0012443	Abnormal brain morphology	3040	HBA2	ORPHA:163596
HP:0012443	Abnormal brain morphology	63901	FAM111A	OMIM:602361
HP:0012443	Abnormal brain morphology	2316	FLNA	ORPHA:90652
HP:0012443	Abnormal brain morphology	2316	FLNA	OMIM:304120
HP:0012443	Abnormal brain morphology	1499	CTNNB1	ORPHA:54595
HP:0012443	Abnormal brain morphology	673	BRAF	ORPHA:54595
HP:0012443	Abnormal brain morphology	673	BRAF	ORPHA:626
HP:0012443	Abnormal brain morphology	673	BRAF	OMIM:115150
HP:0012443	Abnormal brain morphology	673	BRAF	ORPHA:1340
HP:0012443	Abnormal brain morphology	9851	KIAA0753	ORPHA:475
HP:0012443	Abnormal brain morphology	5147	PDE6D	ORPHA:475
HP:0012443	Abnormal brain morphology	8481	OFD1	ORPHA:475
HP:0012443	Abnormal brain morphology	8481	OFD1	ORPHA:244
HP:0012443	Abnormal brain morphology	8481	OFD1	OMIM:311200
HP:0012443	Abnormal brain morphology	65250	CPLANE1	ORPHA:475
HP:0012443	Abnormal brain morphology	200894	ARL13B	ORPHA:475
HP:0012443	Abnormal brain morphology	9731	CEP104	ORPHA:475
HP:0012443	Abnormal brain morphology	219844	HYLS1	ORPHA:475
HP:0012443	Abnormal brain morphology	219844	HYLS1	ORPHA:2189
HP:0012443	Abnormal brain morphology	23247	KATNIP	ORPHA:475
HP:0012443	Abnormal brain morphology	219854	TMEM218	ORPHA:475
HP:0012443	Abnormal brain morphology	9786	KIAA0586	ORPHA:475
HP:0012443	Abnormal brain morphology	9786	KIAA0586	OMIM:616546
HP:0012443	Abnormal brain morphology	10464	PIBF1	ORPHA:475
HP:0012443	Abnormal brain morphology	80210	ARMC9	ORPHA:475
HP:0012443	Abnormal brain morphology	23116	TOGARAM1	ORPHA:475
HP:0012443	Abnormal brain morphology	25776	CBY1	ORPHA:475
HP:0012443	Abnormal brain morphology	403	ARL3	ORPHA:475
HP:0012443	Abnormal brain morphology	80173	IFT74	ORPHA:475
HP:0012443	Abnormal brain morphology	3981	LIG4	ORPHA:235
HP:0012443	Abnormal brain morphology	54888	NSUN2	ORPHA:235
HP:0012443	Abnormal brain morphology	5518	PPP2R1A	OMIM:616362
HP:0012443	Abnormal brain morphology	5518	PPP2R1A	ORPHA:457284
HP:0012443	Abnormal brain morphology	5034	P4HB	OMIM:112240
HP:0012443	Abnormal brain morphology	55621	TRMT1	OMIM:618302
HP:0012443	Abnormal brain morphology	1182	CLCN3	OMIM:619512
HP:0012443	Abnormal brain morphology	54539	NDUFB11	OMIM:309801
HP:0012443	Abnormal brain morphology	54539	NDUFB11	ORPHA:2556
HP:0012443	Abnormal brain morphology	1349	COX7B	OMIM:309801
HP:0012443	Abnormal brain morphology	1349	COX7B	ORPHA:2556
HP:0012443	Abnormal brain morphology	3052	HCCS	OMIM:309801
HP:0012443	Abnormal brain morphology	3052	HCCS	ORPHA:2556
HP:0012443	Abnormal brain morphology	55699	IARS2	OMIM:616007
HP:0012443	Abnormal brain morphology	4613	MYCN	OMIM:620748
HP:0012443	Abnormal brain morphology	285362	SUMF1	OMIM:272200
HP:0012443	Abnormal brain morphology	285362	SUMF1	ORPHA:585
HP:0012443	Abnormal brain morphology	7547	ZIC3	OMIM:314390
HP:0012443	Abnormal brain morphology	7547	ZIC3	OMIM:306955
HP:0012443	Abnormal brain morphology	2187	FANCB	OMIM:314390
HP:0012443	Abnormal brain morphology	2187	FANCB	OMIM:300514
HP:0012443	Abnormal brain morphology	2187	FANCB	ORPHA:84
HP:0012443	Abnormal brain morphology	2187	FANCB	ORPHA:3412
HP:0012443	Abnormal brain morphology	30813	VSX1	OMIM:614195
HP:0012443	Abnormal brain morphology	11041	B4GAT1	OMIM:615287
HP:0012443	Abnormal brain morphology	11041	B4GAT1	ORPHA:899
HP:0012443	Abnormal brain morphology	2263	FGFR2	OMIM:123790
HP:0012443	Abnormal brain morphology	2263	FGFR2	OMIM:101200
HP:0012443	Abnormal brain morphology	2263	FGFR2	OMIM:123500
HP:0012443	Abnormal brain morphology	2263	FGFR2	ORPHA:207
HP:0012443	Abnormal brain morphology	2263	FGFR2	OMIM:101600
HP:0012443	Abnormal brain morphology	2263	FGFR2	ORPHA:87
HP:0012443	Abnormal brain morphology	2263	FGFR2	ORPHA:93259
HP:0012443	Abnormal brain morphology	2263	FGFR2	OMIM:207410
HP:0012443	Abnormal brain morphology	2263	FGFR2	ORPHA:1555
HP:0012443	Abnormal brain morphology	2683	B4GALT1	ORPHA:79332
HP:0012443	Abnormal brain morphology	2683	B4GALT1	OMIM:607091
HP:0012443	Abnormal brain morphology	8643	PTCH2	ORPHA:377
HP:0012443	Abnormal brain morphology	54941	RNF125	OMIM:616260
HP:0012443	Abnormal brain morphology	55120	FANCL	OMIM:614083
HP:0012443	Abnormal brain morphology	55120	FANCL	ORPHA:84
HP:0012443	Abnormal brain morphology	79989	IFT56	OMIM:619534
HP:0012443	Abnormal brain morphology	3423	IDS	OMIM:309900
HP:0012443	Abnormal brain morphology	79641	ROGDI	ORPHA:1946
HP:0012443	Abnormal brain morphology	286204	CRB2	OMIM:219730
HP:0012443	Abnormal brain morphology	25981	DNAH1	ORPHA:244
HP:0012443	Abnormal brain morphology	115948	ODAD3	ORPHA:244
HP:0012443	Abnormal brain morphology	54768	HYDIN	ORPHA:244
HP:0012443	Abnormal brain morphology	352909	DNAAF3	ORPHA:244
HP:0012443	Abnormal brain morphology	27148	STK36	ORPHA:244
HP:0012443	Abnormal brain morphology	51314	NME8	ORPHA:244
HP:0012443	Abnormal brain morphology	92749	DRC1	ORPHA:244
HP:0012443	Abnormal brain morphology	54970	TTC12	ORPHA:244
HP:0012443	Abnormal brain morphology	152110	NEK10	ORPHA:244
HP:0012443	Abnormal brain morphology	2302	FOXJ1	ORPHA:244
HP:0012443	Abnormal brain morphology	221421	RSPH9	ORPHA:244
HP:0012443	Abnormal brain morphology	85478	CCDC65	ORPHA:244
HP:0012443	Abnormal brain morphology	55036	CCDC40	ORPHA:244
HP:0012443	Abnormal brain morphology	51364	ZMYND10	ORPHA:244
HP:0012443	Abnormal brain morphology	64446	DNAI2	ORPHA:244
HP:0012443	Abnormal brain morphology	8382	NME5	ORPHA:244
HP:0012443	Abnormal brain morphology	6674	SPAG1	ORPHA:244
HP:0012443	Abnormal brain morphology	83544	DNAL1	ORPHA:244
HP:0012443	Abnormal brain morphology	89765	RSPH1	ORPHA:244
HP:0012443	Abnormal brain morphology	83538	ODAD4	ORPHA:244
HP:0012443	Abnormal brain morphology	200373	CFAP221	ORPHA:244
HP:0012443	Abnormal brain morphology	374407	DNAJB13	ORPHA:244
HP:0012443	Abnormal brain morphology	55172	DNAAF2	ORPHA:244
HP:0012443	Abnormal brain morphology	161582	DNAAF4	ORPHA:244
HP:0012443	Abnormal brain morphology	2622	GAS8	ORPHA:244
HP:0012443	Abnormal brain morphology	23639	DNAAF11	ORPHA:244
HP:0012443	Abnormal brain morphology	27019	DNAI1	ORPHA:244
HP:0012443	Abnormal brain morphology	345895	RSPH4A	ORPHA:244
HP:0012443	Abnormal brain morphology	54919	DNAAF5	ORPHA:244
HP:0012443	Abnormal brain morphology	6103	RPGR	ORPHA:244
HP:0012443	Abnormal brain morphology	85452	CFAP74	ORPHA:244
HP:0012443	Abnormal brain morphology	93233	ODAD1	ORPHA:244
HP:0012443	Abnormal brain morphology	55130	ODAD2	ORPHA:244
HP:0012443	Abnormal brain morphology	1767	DNAH5	ORPHA:244
HP:0012443	Abnormal brain morphology	83861	RSPH3	ORPHA:244
HP:0012443	Abnormal brain morphology	345643	MCIDAS	ORPHA:244
HP:0012443	Abnormal brain morphology	56683	CFAP298	ORPHA:244
HP:0012443	Abnormal brain morphology	79925	SPEF2	ORPHA:244
HP:0012443	Abnormal brain morphology	10309	CCNO	ORPHA:244
HP:0012443	Abnormal brain morphology	115399	LRRC56	ORPHA:244
HP:0012443	Abnormal brain morphology	139212	DNAAF6	ORPHA:244
HP:0012443	Abnormal brain morphology	123872	DNAAF1	ORPHA:244
HP:0012443	Abnormal brain morphology	85016	CFAP300	ORPHA:244
HP:0012443	Abnormal brain morphology	339829	CCDC39	ORPHA:244
HP:0012443	Abnormal brain morphology	8701	DNAH11	ORPHA:244
HP:0012443	Abnormal brain morphology	1770	DNAH9	ORPHA:244
HP:0012443	Abnormal brain morphology	246176	GAS2L2	ORPHA:244
HP:0012443	Abnormal brain morphology	81839	VANGL1	OMIM:600145
HP:0012443	Abnormal brain morphology	81839	VANGL1	OMIM:182940
HP:0012443	Abnormal brain morphology	51645	PPIL1	OMIM:619301
HP:0012443	Abnormal brain morphology	51362	CDC40	OMIM:619302
HP:0012443	Abnormal brain morphology	5881	RAC3	OMIM:618577
HP:0012443	Abnormal brain morphology	133686	NADK2	OMIM:616034
HP:0012443	Abnormal brain morphology	5888	RAD51	OMIM:617244
HP:0012443	Abnormal brain morphology	5888	RAD51	ORPHA:84
HP:0012443	Abnormal brain morphology	7046	TGFBR1	OMIM:609192
HP:0012443	Abnormal brain morphology	835	CASP2	OMIM:620653
HP:0012443	Abnormal brain morphology	140679	SLC32A1	OMIM:620774
HP:0012443	Abnormal brain morphology	8905	AP1S2	OMIM:304340
HP:0012443	Abnormal brain morphology	8905	AP1S2	ORPHA:85335
HP:0012443	Abnormal brain morphology	1801	DPH1	ORPHA:459061
HP:0012443	Abnormal brain morphology	1802	DPH2	ORPHA:459061
HP:0012443	Abnormal brain morphology	3912	LAMB1	OMIM:615191
HP:0012443	Abnormal brain morphology	3912	LAMB1	ORPHA:352682
HP:0012443	Abnormal brain morphology	51422	PRKAG2	OMIM:261740
HP:0012443	Abnormal brain morphology	6091	ROBO1	OMIM:620305
HP:0012443	Abnormal brain morphology	6347	CCL2	OMIM:182940
HP:0012443	Abnormal brain morphology	80199	FUZ	OMIM:182940
HP:0012443	Abnormal brain morphology	6862	TBXT	OMIM:182940
HP:0012443	Abnormal brain morphology	10312	TCIRG1	ORPHA:667
HP:0012443	Abnormal brain morphology	10312	TCIRG1	OMIM:259700
HP:0012443	Abnormal brain morphology	1186	CLCN7	ORPHA:667
HP:0012443	Abnormal brain morphology	1186	CLCN7	ORPHA:53
HP:0012443	Abnormal brain morphology	29887	SNX10	ORPHA:667
HP:0012443	Abnormal brain morphology	8600	TNFSF11	ORPHA:667
HP:0012443	Abnormal brain morphology	8600	TNFSF11	OMIM:259710
HP:0012443	Abnormal brain morphology	128869	PIGU	OMIM:618590
HP:0012443	Abnormal brain morphology	4967	OGDH	ORPHA:31
HP:0012443	Abnormal brain morphology	1436	CSF1R	OMIM:618476
HP:0012443	Abnormal brain morphology	9871	SEC24D	OMIM:616294
HP:0012443	Abnormal brain morphology	8882	ZPR1	OMIM:619321
HP:0012443	Abnormal brain morphology	7248	TSC1	ORPHA:538
HP:0012443	Abnormal brain morphology	7249	TSC2	ORPHA:538
HP:0012443	Abnormal brain morphology	84892	POMGNT2	ORPHA:899
HP:0012443	Abnormal brain morphology	84892	POMGNT2	OMIM:614830
HP:0012443	Abnormal brain morphology	1282	COL4A1	ORPHA:899
HP:0012443	Abnormal brain morphology	1282	COL4A1	OMIM:175780
HP:0012443	Abnormal brain morphology	10329	RXYLT1	ORPHA:899
HP:0012443	Abnormal brain morphology	56975	FAM20C	OMIM:259775
HP:0012443	Abnormal brain morphology	4784	NFIX	OMIM:602535
HP:0012443	Abnormal brain morphology	57551	TAOK1	OMIM:619575
HP:0012443	Abnormal brain morphology	340665	CYP26C1	ORPHA:398189
HP:0012443	Abnormal brain morphology	5831	PYCR1	OMIM:612940
HP:0012443	Abnormal brain morphology	2077	ERF	ORPHA:207
HP:0012443	Abnormal brain morphology	1312	COMT	ORPHA:567
HP:0012443	Abnormal brain morphology	221037	JMJD1C	ORPHA:567
HP:0012443	Abnormal brain morphology	2812	GP1BB	ORPHA:567
HP:0012443	Abnormal brain morphology	6239	RREB1	ORPHA:567
HP:0012443	Abnormal brain morphology	6899	TBX1	ORPHA:567
HP:0012443	Abnormal brain morphology	7290	HIRA	ORPHA:567
HP:0012443	Abnormal brain morphology	9632	SEC24C	ORPHA:567
HP:0012443	Abnormal brain morphology	7353	UFD1	ORPHA:567
HP:0012443	Abnormal brain morphology	421	ARVCF	ORPHA:567
HP:0012443	Abnormal brain morphology	23258	DENND5A	OMIM:617281
HP:0012443	Abnormal brain morphology	10013	HDAC6	OMIM:300863
HP:0012443	Abnormal brain morphology	10013	HDAC6	ORPHA:163966
HP:0012443	Abnormal brain morphology	2009	EML1	OMIM:600348
HP:0012443	Abnormal brain morphology	5573	PRKAR1A	OMIM:101800
HP:0012443	Abnormal brain morphology	84065	TMEM222	OMIM:619470
HP:0012443	Abnormal brain morphology	54809	SAMD9	OMIM:617053
HP:0012443	Abnormal brain morphology	145173	B3GLCT	OMIM:261540
HP:0012443	Abnormal brain morphology	145173	B3GLCT	ORPHA:709
HP:0012443	Abnormal brain morphology	6711	SPTBN1	OMIM:619475
HP:0012443	Abnormal brain morphology	6608	SMO	OMIM:241800
HP:0012443	Abnormal brain morphology	6608	SMO	ORPHA:2495
HP:0012443	Abnormal brain morphology	238	ALK	ORPHA:626
HP:0012443	Abnormal brain morphology	9839	ZEB2	ORPHA:626
HP:0012443	Abnormal brain morphology	4893	NRAS	ORPHA:626
HP:0012443	Abnormal brain morphology	4893	NRAS	OMIM:249400
HP:0012443	Abnormal brain morphology	5894	RAF1	ORPHA:626
HP:0012443	Abnormal brain morphology	4534	MTM1	OMIM:310400
HP:0012443	Abnormal brain morphology	10682	EBP	OMIM:300960
HP:0012443	Abnormal brain morphology	10682	EBP	ORPHA:401973
HP:0012443	Abnormal brain morphology	55640	FLVCR2	OMIM:225790
HP:0012443	Abnormal brain morphology	3516	RBPJ	ORPHA:974
HP:0012443	Abnormal brain morphology	4851	NOTCH1	ORPHA:974
HP:0012443	Abnormal brain morphology	57514	ARHGAP31	ORPHA:974
HP:0012443	Abnormal brain morphology	57572	DOCK6	ORPHA:974
HP:0012443	Abnormal brain morphology	57572	DOCK6	OMIM:614219
HP:0012443	Abnormal brain morphology	285203	EOGT	ORPHA:974
HP:0012443	Abnormal brain morphology	54567	DLL4	ORPHA:974
HP:0012443	Abnormal brain morphology	23387	SIK3	OMIM:618162
HP:0012443	Abnormal brain morphology	2177	FANCD2	OMIM:227646
HP:0012443	Abnormal brain morphology	2177	FANCD2	ORPHA:84
HP:0012443	Abnormal brain morphology	26137	ZBTB20	ORPHA:3042
HP:0012443	Abnormal brain morphology	55898	UNC45A	OMIM:619377
HP:0012443	Abnormal brain morphology	2629	GBA1	ORPHA:2072
HP:0012443	Abnormal brain morphology	2629	GBA1	OMIM:231005
HP:0012443	Abnormal brain morphology	2629	GBA1	ORPHA:85212
HP:0012443	Abnormal brain morphology	5660	PSAP	ORPHA:206436
HP:0012443	Abnormal brain morphology	9897	WASHC5	ORPHA:7
HP:0012443	Abnormal brain morphology	9897	WASHC5	OMIM:220210
HP:0012443	Abnormal brain morphology	28952	CCDC22	ORPHA:7
HP:0012443	Abnormal brain morphology	57020	VPS35L	ORPHA:7
HP:0012443	Abnormal brain morphology	56896	DPYSL5	ORPHA:7
HP:0012443	Abnormal brain morphology	6913	TBX15	OMIM:260660
HP:0012443	Abnormal brain morphology	1496	CTNNA2	OMIM:618174
HP:0012443	Abnormal brain morphology	55315	SLC29A3	ORPHA:168569
HP:0012443	Abnormal brain morphology	4771	NF2	ORPHA:637
HP:0012443	Abnormal brain morphology	4771	NF2	ORPHA:2495
HP:0012443	Abnormal brain morphology	90952	ESAM	OMIM:620371
HP:0012443	Abnormal brain morphology	10262	SF3B4	OMIM:154400
HP:0012443	Abnormal brain morphology	894	CCND2	ORPHA:83473
HP:0012443	Abnormal brain morphology	894	CCND2	OMIM:615938
HP:0012443	Abnormal brain morphology	5296	PIK3R2	ORPHA:83473
HP:0012443	Abnormal brain morphology	5296	PIK3R2	OMIM:603387
HP:0012443	Abnormal brain morphology	10000	AKT3	ORPHA:83473
HP:0012443	Abnormal brain morphology	10000	AKT3	OMIM:615937
HP:0012443	Abnormal brain morphology	10992	SF3B2	OMIM:164210
HP:0012443	Abnormal brain morphology	80144	FRAS1	OMIM:219000
HP:0012443	Abnormal brain morphology	5447	POR	ORPHA:95699
HP:0012443	Abnormal brain morphology	5447	POR	OMIM:207410
HP:0012443	Abnormal brain morphology	6662	SOX9	OMIM:114290
HP:0012443	Abnormal brain morphology	29072	SETD2	OMIM:620157
HP:0012443	Abnormal brain morphology	29072	SETD2	OMIM:620155
HP:0012443	Abnormal brain morphology	26153	KIF26A	OMIM:620156
HP:0012443	Abnormal brain morphology	8792	TNFRSF11A	OMIM:612301
HP:0012443	Abnormal brain morphology	114034	TOE1	OMIM:614969
HP:0012443	Abnormal brain morphology	672	BRCA1	ORPHA:84
HP:0012443	Abnormal brain morphology	10459	MAD2L2	ORPHA:84
HP:0012443	Abnormal brain morphology	7516	XRCC2	ORPHA:84
HP:0012443	Abnormal brain morphology	29089	UBE2T	ORPHA:84
HP:0012443	Abnormal brain morphology	675	BRCA2	ORPHA:84
HP:0012443	Abnormal brain morphology	2175	FANCA	ORPHA:84
HP:0012443	Abnormal brain morphology	2176	FANCC	ORPHA:84
HP:0012443	Abnormal brain morphology	2178	FANCE	ORPHA:84
HP:0012443	Abnormal brain morphology	2188	FANCF	ORPHA:84
HP:0012443	Abnormal brain morphology	2189	FANCG	ORPHA:84
HP:0012443	Abnormal brain morphology	5889	RAD51C	ORPHA:84
HP:0012443	Abnormal brain morphology	55159	RFWD3	ORPHA:84
HP:0012443	Abnormal brain morphology	83990	BRIP1	ORPHA:84
HP:0012443	Abnormal brain morphology	57697	FANCM	ORPHA:84
HP:0012443	Abnormal brain morphology	79728	PALB2	ORPHA:84
HP:0012443	Abnormal brain morphology	84464	SLX4	ORPHA:84
HP:0012443	Abnormal brain morphology	55215	FANCI	ORPHA:84
HP:0012443	Abnormal brain morphology	83550	GPR101	ORPHA:963
HP:0012443	Abnormal brain morphology	5340	PLG	ORPHA:722
HP:0012443	Abnormal brain morphology	5340	PLG	OMIM:217090
HP:0012443	Abnormal brain morphology	9896	FIG4	ORPHA:3472
HP:0012443	Abnormal brain morphology	55697	VAC14	ORPHA:3472
HP:0012443	Abnormal brain morphology	3425	IDUA	OMIM:607014
HP:0012443	Abnormal brain morphology	3425	IDUA	ORPHA:93473
HP:0012443	Abnormal brain morphology	7468	NSD2	OMIM:194190
HP:0012443	Abnormal brain morphology	10815	CPLX1	OMIM:194190
HP:0012443	Abnormal brain morphology	1487	CTBP1	OMIM:194190
HP:0012443	Abnormal brain morphology	53834	FGFRL1	OMIM:194190
HP:0012443	Abnormal brain morphology	3954	LETM1	OMIM:194190
HP:0012443	Abnormal brain morphology	3265	HRAS	OMIM:218040
HP:0012443	Abnormal brain morphology	2200	FBN1	OMIM:616914
HP:0012443	Abnormal brain morphology	3192	HNRNPU	ORPHA:238769
HP:0012443	Abnormal brain morphology	4593	MUSK	OMIM:208150
HP:0012443	Abnormal brain morphology	5063	PAK3	OMIM:300558
HP:0012443	Abnormal brain morphology	64327	LMBR1	ORPHA:2378
HP:0012443	Abnormal brain morphology	4519	MT-CYB	ORPHA:137675
HP:0012443	Abnormal brain morphology	8314	BAP1	ORPHA:2495
HP:0012443	Abnormal brain morphology	6598	SMARCB1	ORPHA:2495
HP:0012443	Abnormal brain morphology	6598	SMARCB1	ORPHA:99966
HP:0012443	Abnormal brain morphology	5155	PDGFB	ORPHA:2495
HP:0012443	Abnormal brain morphology	84231	TRAF7	ORPHA:2495
HP:0012443	Abnormal brain morphology	207	AKT1	ORPHA:2495
HP:0012443	Abnormal brain morphology	7015	TERT	ORPHA:2495
HP:0012443	Abnormal brain morphology	6605	SMARCE1	ORPHA:2495
HP:0012443	Abnormal brain morphology	11128	POLR3A	OMIM:264090
HP:0012443	Abnormal brain morphology	11128	POLR3A	ORPHA:3455
HP:0012443	Abnormal brain morphology	4094	MAF	ORPHA:1272
HP:0012443	Abnormal brain morphology	5921	RASA1	ORPHA:137667
HP:0012443	Abnormal brain morphology	3662	IRF4	ORPHA:3452
HP:0012443	Abnormal brain morphology	6949	TCOF1	OMIM:154500
HP:0012443	Abnormal brain morphology	440193	CCDC88C	OMIM:236600
HP:0012443	Abnormal brain morphology	7048	TGFBR2	OMIM:610168
HP:0012443	Abnormal brain morphology	5824	PEX19	OMIM:614886
HP:0012443	Abnormal brain morphology	157570	ESCO2	OMIM:268300
HP:0012443	Abnormal brain morphology	84667	HES7	OMIM:613686
HP:0012443	Abnormal brain morphology	51134	CEP83	OMIM:615862
HP:0012443	Abnormal brain morphology	2719	GPC3	OMIM:312870
HP:0012443	Abnormal brain morphology	2239	GPC4	OMIM:312870
HP:0012443	Abnormal brain morphology	63895	PIEZO2	ORPHA:2461
HP:0012443	Abnormal brain morphology	9927	MFN2	ORPHA:99947
HP:0012443	Abnormal brain morphology	579	NKX3-2	OMIM:613330
HP:0012443	Abnormal brain morphology	100151683	RNU4ATAC	OMIM:210710
HP:0012443	Abnormal brain morphology	26160	IFT172	OMIM:615630
HP:0012443	Abnormal brain morphology	7473	WNT3	ORPHA:3301
HP:0012443	Abnormal brain morphology	7473	WNT3	OMIM:273395
HP:0012443	Abnormal brain morphology	340419	RSPO2	ORPHA:3301
HP:0012443	Abnormal brain morphology	9496	TBX4	ORPHA:3301
HP:0012443	Abnormal brain morphology	411	ARSB	OMIM:253200
HP:0012443	Abnormal brain morphology	84162	BLTP1	OMIM:617822
HP:0012443	Abnormal brain morphology	4750	NEK1	OMIM:252100
HP:0012443	Abnormal brain morphology	5604	MAP2K1	ORPHA:1340
HP:0012443	Abnormal brain morphology	5605	MAP2K2	ORPHA:1340
HP:0012443	Abnormal brain morphology	3845	KRAS	ORPHA:1340
HP:0012443	Abnormal brain morphology	1063	CENPF	OMIM:243605
HP:0012443	Abnormal brain morphology	51524	TMEM138	ORPHA:2318
HP:0012443	Abnormal brain morphology	23090	ZNF423	ORPHA:2318
HP:0012443	Abnormal brain morphology	64093	SMOC1	ORPHA:1106
HP:0012443	Abnormal brain morphology	57511	COG6	OMIM:614576
HP:0012443	Abnormal brain morphology	80781	COL18A1	ORPHA:1571
HP:0012443	Abnormal brain morphology	5062	PAK2	ORPHA:1571
HP:0012443	Abnormal brain morphology	4758	NEU1	ORPHA:93400
HP:0012443	Abnormal brain morphology	64840	PORCN	OMIM:305600
HP:0012443	Abnormal brain morphology	7874	USP7	ORPHA:500055
HP:0012443	Abnormal brain morphology	9791	PTDSS1	ORPHA:2658
HP:0012443	Abnormal brain morphology	29957	SLC25A24	OMIM:612289
HP:0012443	Abnormal brain morphology	23040	MYT1L	OMIM:616521
HP:0012443	Abnormal brain morphology	7305	TYROBP	ORPHA:2770
HP:0012443	Abnormal brain morphology	112752	IFT43	OMIM:617866
HP:0012443	Abnormal brain morphology	3110	MNX1	ORPHA:1552
HP:0012443	Abnormal brain morphology	2068	ERCC2	ORPHA:220295
HP:0012443	Abnormal brain morphology	2073	ERCC5	ORPHA:220295
HP:0012443	Abnormal brain morphology	2071	ERCC3	ORPHA:220295
HP:0012443	Abnormal brain morphology	139285	AMER1	OMIM:300373
HP:0012443	Abnormal brain morphology	6497	SKI	OMIM:182212
HP:0012443	Abnormal brain morphology	126792	B3GALT6	ORPHA:536467
HP:0012443	Abnormal brain morphology	26503	SLC17A5	OMIM:269920
HP:0012443	Abnormal brain morphology	2990	GUSB	OMIM:253220
HP:0012443	Abnormal brain morphology	59341	TRPV4	ORPHA:2635
HP:0012443	Abnormal brain morphology	8777	MPDZ	OMIM:615219
HP:0012443	Abnormal brain morphology	2639	GCDH	OMIM:231670
HP:0012443	Abnormal brain morphology	9469	CHST3	OMIM:245600
HP:0012443	Abnormal brain morphology	26229	B3GAT3	OMIM:245600
HP:0012443	Abnormal brain morphology	5052	PRDX1	OMIM:277400
HP:0012443	Abnormal brain morphology	1139	CHRNA7	ORPHA:199318
HP:0012443	Abnormal brain morphology	6228	RPS23	OMIM:617412
HP:0012443	Abnormal brain morphology	10111	RAD50	OMIM:613078
HP:0012443	Abnormal brain morphology	55681	SCYL2	OMIM:618766
HP:0012443	Abnormal brain morphology	85465	SELENOI	OMIM:618768
HP:0012443	Abnormal brain morphology	85465	SELENOI	ORPHA:506353
HP:0012443	Abnormal brain morphology	2904	GRIN2B	OMIM:616139
HP:0012443	Abnormal brain morphology	2904	GRIN2B	OMIM:613970
HP:0012443	Abnormal brain morphology	54916	TMEM260	OMIM:617478
HP:0012443	Abnormal brain morphology	4733	DRG1	OMIM:620641
HP:0012443	Abnormal brain morphology	120	ADD3	OMIM:617008
HP:0012443	Abnormal brain morphology	5910	RAP1GDS1	OMIM:620655
HP:0012443	Abnormal brain morphology	3480	IGF1R	ORPHA:73273
HP:0012443	Abnormal brain morphology	3480	IGF1R	OMIM:270450
HP:0012443	Abnormal brain morphology	10564	ARFGEF2	OMIM:608097
HP:0012443	Abnormal brain morphology	27125	AFF4	ORPHA:444077
HP:0012443	Abnormal brain morphology	27125	AFF4	OMIM:616368
HP:0012443	Abnormal brain morphology	2334	AFF2	OMIM:309548
HP:0012443	Abnormal brain morphology	92255	LMBRD2	OMIM:619694
HP:0012443	Abnormal brain morphology	3054	HCFC1	OMIM:309541
HP:0012443	Abnormal brain morphology	201163	FLCN	OMIM:610883
HP:0012443	Abnormal brain morphology	3183	HNRNPC	OMIM:620688
HP:0012443	Abnormal brain morphology	3431	SP110	OMIM:235550
HP:0012443	Abnormal brain morphology	3431	SP110	ORPHA:79124
HP:0012443	Abnormal brain morphology	7703	PCGF2	OMIM:618371
HP:0012443	Abnormal brain morphology	27316	RBMX	OMIM:309555
HP:0012443	Abnormal brain morphology	51729	WBP11	OMIM:619227
HP:0012443	Abnormal brain morphology	2707	GJB3	ORPHA:317
HP:0012443	Abnormal brain morphology	2531	KDSR	ORPHA:317
HP:0012443	Abnormal brain morphology	127534	GJB4	ORPHA:317
HP:0012443	Abnormal brain morphology	9757	KMT2B	ORPHA:589618
HP:0012443	Abnormal brain morphology	9757	KMT2B	OMIM:619934
HP:0012443	Abnormal brain morphology	9757	KMT2B	OMIM:617284
HP:0012443	Abnormal brain morphology	84265	POLR3GL	OMIM:619234
HP:0012443	Abnormal brain morphology	8452	CUL3	OMIM:619239
HP:0012443	Abnormal brain morphology	1457	CSNK2A1	OMIM:617062
HP:0012443	Abnormal brain morphology	7204	TRIO	OMIM:617061
HP:0012443	Abnormal brain morphology	23112	TNRC6B	OMIM:619243
HP:0012443	Abnormal brain morphology	8242	KDM5C	ORPHA:85279
HP:0012443	Abnormal brain morphology	8242	KDM5C	OMIM:300534
HP:0012443	Abnormal brain morphology	89970	RSPRY1	ORPHA:457395
HP:0012443	Abnormal brain morphology	89970	RSPRY1	OMIM:616723
HP:0012443	Abnormal brain morphology	81615	TMEM163	OMIM:620243
HP:0012443	Abnormal brain morphology	25886	POC1A	OMIM:614813
HP:0012443	Abnormal brain morphology	128	ADH5	OMIM:619151
HP:0012443	Abnormal brain morphology	6535	SLC6A8	OMIM:300352
HP:0012443	Abnormal brain morphology	6535	SLC6A8	ORPHA:52503
HP:0012443	Abnormal brain morphology	26960	NBEA	OMIM:619157
HP:0012443	Abnormal brain morphology	10093	ARPC4	OMIM:620141
HP:0012443	Abnormal brain morphology	613	BCR	ORPHA:261330
HP:0012443	Abnormal brain morphology	1399	CRKL	ORPHA:261330
HP:0012443	Abnormal brain morphology	5594	MAPK1	ORPHA:261330
HP:0012443	Abnormal brain morphology	5594	MAPK1	OMIM:619087
HP:0012443	Abnormal brain morphology	224	ALDH3A2	ORPHA:816
HP:0012443	Abnormal brain morphology	3242	HPD	OMIM:140350
HP:0012443	Abnormal brain morphology	338657	CENATAC	OMIM:620153
HP:0012443	Abnormal brain morphology	25778	DSTYK	OMIM:270750
HP:0012443	Abnormal brain morphology	56992	KIF15	ORPHA:261323
HP:0012443	Abnormal brain morphology	56992	KIF15	OMIM:619981
HP:0012443	Abnormal brain morphology	4718	NDUFC2	OMIM:619170
HP:0012443	Abnormal brain morphology	1738	DLD	ORPHA:2394
HP:0012443	Abnormal brain morphology	1738	DLD	OMIM:246900
HP:0012443	Abnormal brain morphology	92579	G6PC3	OMIM:612541
HP:0012443	Abnormal brain morphology	222663	SCUBE3	OMIM:619184
HP:0012443	Abnormal brain morphology	63894	VIPAS39	OMIM:613404
HP:0012443	Abnormal brain morphology	54084	TSPEAR	OMIM:620173
HP:0012443	Abnormal brain morphology	91754	NEK9	ORPHA:64754
HP:0012443	Abnormal brain morphology	3675	ITGA3	OMIM:614748
HP:0012443	Abnormal brain morphology	8379	MAD1L1	OMIM:620189
HP:0012443	Abnormal brain morphology	23137	SMC5	OMIM:620185
HP:0012443	Abnormal brain morphology	388015	RTL1	ORPHA:96334
HP:0012443	Abnormal brain morphology	8788	DLK1	ORPHA:96334
HP:0012443	Abnormal brain morphology	55384	MEG3	ORPHA:96334
HP:0012443	Abnormal brain morphology	415	ARSL	OMIM:302950
HP:0012443	Abnormal brain morphology	81887	LAS1L	OMIM:309585
HP:0012443	Abnormal brain morphology	545	ATR	ORPHA:808
HP:0012443	Abnormal brain morphology	545	ATR	OMIM:210600
HP:0012443	Abnormal brain morphology	79902	NUP85	ORPHA:808
HP:0012443	Abnormal brain morphology	84126	ATRIP	ORPHA:808
HP:0012443	Abnormal brain morphology	51567	TDP2	OMIM:616949
HP:0012443	Abnormal brain morphology	9894	TELO2	OMIM:616954
HP:0012443	Abnormal brain morphology	3097	HIVEP2	OMIM:616977
HP:0012443	Abnormal brain morphology	9837	GINS1	OMIM:617827
HP:0012443	Abnormal brain morphology	79840	NHEJ1	ORPHA:169079
HP:0012443	Abnormal brain morphology	134701	RIPPLY2	ORPHA:2311
HP:0012443	Abnormal brain morphology	10683	DLL3	ORPHA:2311
HP:0012443	Abnormal brain morphology	3955	LFNG	ORPHA:2311
HP:0012443	Abnormal brain morphology	145873	MESP2	ORPHA:2311
HP:0012443	Abnormal brain morphology	197131	UBR1	ORPHA:2315
HP:0012443	Abnormal brain morphology	197131	UBR1	OMIM:243800
HP:0012443	Abnormal brain morphology	55180	LINS1	OMIM:614340
HP:0012443	Abnormal brain morphology	80152	CENPT	OMIM:618702
HP:0012443	Abnormal brain morphology	6697	SPR	ORPHA:70594
HP:0012443	Abnormal brain morphology	6697	SPR	OMIM:612716
HP:0012443	Abnormal brain morphology	953	ENTPD1	OMIM:615683
HP:0012443	Abnormal brain morphology	953	ENTPD1	ORPHA:401810
HP:0012443	Abnormal brain morphology	55691	FRMD4A	ORPHA:466688
HP:0012443	Abnormal brain morphology	55733	HHAT	ORPHA:1422
HP:0012443	Abnormal brain morphology	55733	HHAT	OMIM:600092
HP:0012443	Abnormal brain morphology	84700	MYO18B	OMIM:616549
HP:0012443	Abnormal brain morphology	8086	AAAS	OMIM:231550
HP:0012443	Abnormal brain morphology	8086	AAAS	ORPHA:869
HP:0012443	Abnormal brain morphology	2182	ACSL4	OMIM:300387
HP:0012443	Abnormal brain morphology	51763	INPP5K	OMIM:617404
HP:0012443	Abnormal brain morphology	8367	H4C5	OMIM:619950
HP:0012443	Abnormal brain morphology	1947	EFNB1	ORPHA:1520
HP:0012443	Abnormal brain morphology	1355	COX15	OMIM:615119
HP:0012443	Abnormal brain morphology	4047	LSS	ORPHA:2850
HP:0012443	Abnormal brain morphology	4047	LSS	OMIM:618840
HP:0012443	Abnormal brain morphology	197	AHSG	ORPHA:2850
HP:0012443	Abnormal brain morphology	3694	ITGB6	ORPHA:2850
HP:0012443	Abnormal brain morphology	28960	DCPS	OMIM:616459
HP:0012443	Abnormal brain morphology	10559	SLC35A1	OMIM:603585
HP:0012443	Abnormal brain morphology	80153	EDC3	OMIM:616460
HP:0012443	Abnormal brain morphology	55870	ASH1L	OMIM:617796
HP:0012443	Abnormal brain morphology	815	CAMK2A	OMIM:617798
HP:0012443	Abnormal brain morphology	23184	MESD	OMIM:618644
HP:0012443	Abnormal brain morphology	55109	AGGF1	ORPHA:90308
HP:0012443	Abnormal brain morphology	1656	DDX6	OMIM:618653
HP:0012443	Abnormal brain morphology	1501	CTNND2	ORPHA:281
HP:0012443	Abnormal brain morphology	9037	SEMA5A	ORPHA:281
HP:0012443	Abnormal brain morphology	26057	ANKRD17	OMIM:619504
HP:0012443	Abnormal brain morphology	55623	THUMPD1	OMIM:619989
HP:0012443	Abnormal brain morphology	57167	SALL4	ORPHA:233
HP:0012443	Abnormal brain morphology	9935	MAFB	ORPHA:233
HP:0012443	Abnormal brain morphology	1123	CHN1	ORPHA:233
HP:0012443	Abnormal brain morphology	7862	BRPF1	OMIM:617333
HP:0012443	Abnormal brain morphology	286	ANK1	ORPHA:251066
HP:0012443	Abnormal brain morphology	7385	UQCRC2	OMIM:615160
HP:0012443	Abnormal brain morphology	7750	ZMYM2	OMIM:619522
HP:0012443	Abnormal brain morphology	9922	IQSEC1	OMIM:618687
HP:0012443	Abnormal brain morphology	57479	PRR12	OMIM:619539
HP:0012443	Abnormal brain morphology	10516	FBLN5	ORPHA:90348
HP:0012443	Abnormal brain morphology	10516	FBLN5	OMIM:219100
HP:0012443	Abnormal brain morphology	1173	AP2M1	ORPHA:1942
HP:0012443	Abnormal brain morphology	6529	SLC6A1	ORPHA:1942
HP:0012443	Abnormal brain morphology	5587	PRKD1	OMIM:617364
HP:0012443	Abnormal brain morphology	11338	U2AF2	OMIM:620535
HP:0012443	Abnormal brain morphology	54808	DYM	ORPHA:239
HP:0012443	Abnormal brain morphology	54808	DYM	OMIM:223800
HP:0012443	Abnormal brain morphology	54808	DYM	OMIM:607326
HP:0012443	Abnormal brain morphology	23314	SATB2	ORPHA:251028
HP:0012443	Abnormal brain morphology	23314	SATB2	ORPHA:251019
HP:0012443	Abnormal brain morphology	23314	SATB2	OMIM:612313
HP:0012443	Abnormal brain morphology	83548	COG3	OMIM:620546
HP:0012443	Abnormal brain morphology	92344	GORAB	OMIM:231070
HP:0012443	Abnormal brain morphology	6898	TAT	ORPHA:28378
HP:0012443	Abnormal brain morphology	9451	EIF2AK3	OMIM:226980
HP:0012443	Abnormal brain morphology	9451	EIF2AK3	ORPHA:1667
HP:0012443	Abnormal brain morphology	5000	ORC4	OMIM:613800
HP:0012443	Abnormal brain morphology	5000	ORC4	ORPHA:2554
HP:0012443	Abnormal brain morphology	81620	CDT1	OMIM:613804
HP:0012443	Abnormal brain morphology	81620	CDT1	ORPHA:2554
HP:0012443	Abnormal brain morphology	23594	ORC6	OMIM:613803
HP:0012443	Abnormal brain morphology	23594	ORC6	ORPHA:2554
HP:0012443	Abnormal brain morphology	990	CDC6	OMIM:613805
HP:0012443	Abnormal brain morphology	990	CDC6	ORPHA:2554
HP:0012443	Abnormal brain morphology	10847	SRCAP	OMIM:619595
HP:0012443	Abnormal brain morphology	55526	DHTKD1	OMIM:204750
HP:0012443	Abnormal brain morphology	90416	CCDC32	OMIM:619123
HP:0012443	Abnormal brain morphology	3739	KCNA4	OMIM:618284
HP:0012443	Abnormal brain morphology	4683	NBN	ORPHA:647
HP:0012443	Abnormal brain morphology	4683	NBN	OMIM:251260
HP:0012443	Abnormal brain morphology	8665	EIF3F	OMIM:618295
HP:0012443	Abnormal brain morphology	11198	SUPT16H	ORPHA:261229
HP:0012443	Abnormal brain morphology	341640	FREM2	ORPHA:2052
HP:0012443	Abnormal brain morphology	55325	UFSP2	OMIM:620028
HP:0012443	Abnormal brain morphology	1119	CHKA	OMIM:620023
HP:0012443	Abnormal brain morphology	57176	VARS2	OMIM:615917
HP:0012443	Abnormal brain morphology	1636	ACE	OMIM:267430
HP:0012443	Abnormal brain morphology	183	AGT	OMIM:267430
HP:0012443	Abnormal brain morphology	185	AGTR1	OMIM:267430
HP:0012443	Abnormal brain morphology	5972	REN	OMIM:267430
HP:0012443	Abnormal brain morphology	5689	PSMB1	OMIM:620038
HP:0012443	Abnormal brain morphology	63908	NAPB	OMIM:620033
HP:0012443	Abnormal brain morphology	7080	NKX2-1	ORPHA:209905
HP:0012443	Abnormal brain morphology	4212	MEIS2	OMIM:600987
HP:0012443	Abnormal brain morphology	4212	MEIS2	ORPHA:261190
HP:0012443	Abnormal brain morphology	55027	HEATR3	OMIM:620072
HP:0012443	Abnormal brain morphology	55027	HEATR3	ORPHA:124
HP:0012443	Abnormal brain morphology	5700	PSMC1	OMIM:620071
HP:0012443	Abnormal brain morphology	92154	MTSS2	OMIM:620086
HP:0012443	Abnormal brain morphology	197322	ACSF3	ORPHA:289504
HP:0012443	Abnormal brain morphology	2703	GJA8	OMIM:612474
HP:0012443	Abnormal brain morphology	2702	GJA5	OMIM:612474
HP:0012443	Abnormal brain morphology	51053	GMNN	OMIM:616835
HP:0012443	Abnormal brain morphology	51053	GMNN	ORPHA:2554
HP:0012443	Abnormal brain morphology	6307	MSMO1	OMIM:616834
HP:0012443	Abnormal brain morphology	1828	DSG1	OMIM:615508
HP:0012443	Abnormal brain morphology	3720	JARID2	OMIM:620098
HP:0012443	Abnormal brain morphology	55784	MCTP2	ORPHA:1596
HP:0012443	Abnormal brain morphology	55997	CFC1	OMIM:605376
HP:0012443	Abnormal brain morphology	26224	FBXL3	OMIM:606220
HP:0012443	Abnormal brain morphology	80185	TTI2	OMIM:615541
HP:0012443	Abnormal brain morphology	80185	TTI2	ORPHA:391307
HP:0012443	Abnormal brain morphology	2464	FRA16E	OMIM:136570
HP:0012443	Abnormal brain morphology	23443	SLC35A3	OMIM:615553
HP:0012443	Abnormal brain morphology	6591	SNAI2	ORPHA:2884
HP:0012443	Abnormal brain morphology	3815	KIT	ORPHA:2884
HP:0012443	Abnormal brain morphology	9320	TRIP12	OMIM:617752
HP:0012443	Abnormal brain morphology	1663	DDX11	OMIM:613398
HP:0012443	Abnormal brain morphology	6777	STAT5B	OMIM:618985
HP:0012443	Abnormal brain morphology	5927	KDM5A	OMIM:620820
HP:0012443	Abnormal brain morphology	23498	HAAO	OMIM:617660
HP:0012443	Abnormal brain morphology	8942	KYNU	OMIM:617661
HP:0012443	Abnormal brain morphology	3149	HMGB3	OMIM:300915
HP:0012443	Abnormal brain morphology	288	ANK3	OMIM:615493
HP:0012443	Abnormal brain morphology	1020	CDK5	OMIM:616342
HP:0012443	Abnormal brain morphology	7994	KAT6A	ORPHA:457193
HP:0012443	Abnormal brain morphology	7994	KAT6A	OMIM:616268
HP:0012443	Abnormal brain morphology	788	SLC25A20	ORPHA:159
HP:0012443	Abnormal brain morphology	116115	ZNF526	OMIM:619877
HP:0012443	Abnormal brain morphology	83479	DDX59	ORPHA:2919
HP:0012443	Abnormal brain morphology	83479	DDX59	OMIM:174300
HP:0012443	Abnormal brain morphology	4285	MIPEP	OMIM:617228
HP:0012443	Abnormal brain morphology	641	BLM	OMIM:210900
HP:0012443	Abnormal brain morphology	374969	SVBP	OMIM:618569
HP:0012443	Abnormal brain morphology	84295	PHF6	ORPHA:127
HP:0012443	Abnormal brain morphology	84295	PHF6	OMIM:301900
HP:0012443	Abnormal brain morphology	6138	RPL15	ORPHA:124
HP:0012443	Abnormal brain morphology	6165	RPL35A	ORPHA:124
HP:0012443	Abnormal brain morphology	6132	RPL8	ORPHA:124
HP:0012443	Abnormal brain morphology	6223	RPS19	ORPHA:124
HP:0012443	Abnormal brain morphology	6223	RPS19	OMIM:105650
HP:0012443	Abnormal brain morphology	6232	RPS27	ORPHA:124
HP:0012443	Abnormal brain morphology	6160	RPL31	ORPHA:124
HP:0012443	Abnormal brain morphology	6201	RPS7	ORPHA:124
HP:0012443	Abnormal brain morphology	6155	RPL27	ORPHA:124
HP:0012443	Abnormal brain morphology	6234	RPS28	ORPHA:124
HP:0012443	Abnormal brain morphology	6135	RPL11	ORPHA:124
HP:0012443	Abnormal brain morphology	6229	RPS24	ORPHA:124
HP:0012443	Abnormal brain morphology	6125	RPL5	ORPHA:124
HP:0012443	Abnormal brain morphology	6204	RPS10	ORPHA:124
HP:0012443	Abnormal brain morphology	2623	GATA1	ORPHA:124
HP:0012443	Abnormal brain morphology	6133	RPL9	ORPHA:124
HP:0012443	Abnormal brain morphology	6231	RPS26	ORPHA:124
HP:0012443	Abnormal brain morphology	11224	RPL35	ORPHA:124
HP:0012443	Abnormal brain morphology	6218	RPS17	ORPHA:124
HP:0012443	Abnormal brain morphology	6154	RPL26	ORPHA:124
HP:0012443	Abnormal brain morphology	6210	RPS15A	ORPHA:124
HP:0012443	Abnormal brain morphology	90121	TSR2	ORPHA:124
HP:0012443	Abnormal brain morphology	6141	RPL18	ORPHA:124
HP:0012443	Abnormal brain morphology	6235	RPS29	ORPHA:124
HP:0012443	Abnormal brain morphology	55656	INTS8	OMIM:618572
HP:0012443	Abnormal brain morphology	51574	LARP7	OMIM:615071
HP:0012443	Abnormal brain morphology	286053	NSMCE2	OMIM:617253
HP:0012443	Abnormal brain morphology	84894	LINGO1	OMIM:618103
HP:0012443	Abnormal brain morphology	8473	OGT	OMIM:300997
HP:0012443	Abnormal brain morphology	6418	SET	OMIM:618106
HP:0012443	Abnormal brain morphology	1120	CHKB	OMIM:602541
HP:0012443	Abnormal brain morphology	23524	SRRM2	OMIM:620439
HP:0012443	Abnormal brain morphology	114803	MYSM1	OMIM:618116
HP:0012443	Abnormal brain morphology	51132	RLIM	OMIM:300978
HP:0012443	Abnormal brain morphology	4998	ORC1	OMIM:224690
HP:0012443	Abnormal brain morphology	4998	ORC1	ORPHA:2554
HP:0012443	Abnormal brain morphology	27341	RRP7A	OMIM:619453
HP:0012443	Abnormal brain morphology	3376	IARS1	ORPHA:541423
HP:0012443	Abnormal brain morphology	9675	TTI1	OMIM:620445
HP:0012443	Abnormal brain morphology	5077	PAX3	OMIM:148820
HP:0012443	Abnormal brain morphology	5077	PAX3	ORPHA:896
HP:0012443	Abnormal brain morphology	92949	ADAMTSL1	ORPHA:521445
HP:0012443	Abnormal brain morphology	6874	TAF4	OMIM:620450
HP:0012443	Abnormal brain morphology	348180	CTU2	OMIM:618142
HP:0012443	Abnormal brain morphology	60676	PAPPA2	OMIM:619489
HP:0012443	Abnormal brain morphology	7284	TUFM	OMIM:610678
HP:0012443	Abnormal brain morphology	407975	MIR17HG	ORPHA:391646
HP:0012443	Abnormal brain morphology	5805	PTS	OMIM:261640
HP:0012443	Abnormal brain morphology	63899	NSUN3	OMIM:619012
HP:0012443	Abnormal brain morphology	5557	PRIM1	OMIM:620005
HP:0012443	Abnormal brain morphology	64432	MRPS25	OMIM:619025
HP:0012443	Abnormal brain morphology	84842	HPDL	OMIM:619026
HP:0012443	Abnormal brain morphology	123263	MTFMT	OMIM:614947
HP:0012443	Abnormal brain morphology	10225	CD96	OMIM:211750
HP:0012443	Abnormal brain morphology	10225	CD96	ORPHA:1308
HP:0012443	Abnormal brain morphology	80204	FBXO11	OMIM:618089
HP:0012443	Abnormal brain morphology	23325	WASHC4	OMIM:615817
HP:0012443	Abnormal brain morphology	1009	CDH11	ORPHA:1299
HP:0012443	Abnormal brain morphology	51067	YARS2	ORPHA:2598
HP:0012443	Abnormal brain morphology	5830	PEX5	OMIM:616716
HP:0012443	Abnormal brain morphology	5830	PEX5	ORPHA:912
HP:0012443	Abnormal brain morphology	84181	CHD6	ORPHA:2108
HP:0012443	Abnormal brain morphology	2245	FGD1	OMIM:305400
HP:0012443	Abnormal brain morphology	5648	MASP1	OMIM:257920
HP:0012443	Abnormal brain morphology	26115	TANC2	OMIM:618906
HP:0012443	Abnormal brain morphology	54101	RIPK4	ORPHA:1234
HP:0012443	Abnormal brain morphology	3176	HNMT	OMIM:616739
HP:0012443	Abnormal brain morphology	4131	MAP1B	OMIM:618918
HP:0012443	Abnormal brain morphology	3759	KCNJ2	OMIM:170390
HP:0012443	Abnormal brain morphology	8318	CDC45	ORPHA:2554
HP:0012443	Abnormal brain morphology	84172	POLR1B	OMIM:618939
HP:0012443	Abnormal brain morphology	157680	VPS13B	ORPHA:193
HP:0012443	Abnormal brain morphology	157680	VPS13B	OMIM:216550
HP:0012443	Abnormal brain morphology	64857	PLEKHG2	OMIM:616763
HP:0012443	Abnormal brain morphology	51520	LARS1	OMIM:615438
HP:0012443	Abnormal brain morphology	55617	TASP1	OMIM:618950
HP:0012443	Abnormal brain morphology	60528	ELAC2	OMIM:615440
HP:0012443	Abnormal brain morphology	28957	MRPS28	OMIM:618958
HP:0012443	Abnormal brain morphology	3832	KIF11	ORPHA:2526
HP:0012443	Abnormal brain morphology	3832	KIF11	OMIM:152950
HP:0012443	Abnormal brain morphology	7991	TUSC3	OMIM:611093
HP:0012443	Abnormal brain morphology	1804	DPP6	ORPHA:2514
HP:0012443	Abnormal brain morphology	1804	DPP6	OMIM:616311
HP:0012443	Abnormal brain morphology	8192	CLPP	OMIM:614129
HP:0012443	Abnormal brain morphology	1146	CHRNG	ORPHA:2990
HP:0012443	Abnormal brain morphology	55367	PIDD1	OMIM:619827
HP:0012443	Abnormal brain morphology	104	ADARB1	OMIM:618862
HP:0012443	Abnormal brain morphology	10973	ASCC3	OMIM:620700
HP:0012443	Abnormal brain morphology	3021	H3-3B	OMIM:619721
HP:0012443	Abnormal brain morphology	4056	LTC4S	OMIM:614037
HP:0012443	Abnormal brain morphology	72	ACTG2	ORPHA:2604
HP:0012443	Abnormal brain morphology	51319	RSRC1	OMIM:618402
HP:0012443	Abnormal brain morphology	23761	PISD	OMIM:618889
HP:0012443	Abnormal brain morphology	7020	TFAP2A	OMIM:113620
HP:0012443	Abnormal brain morphology	4297	KMT2A	ORPHA:319182
HP:0012443	Abnormal brain morphology	4297	KMT2A	OMIM:605130
HP:0012443	Abnormal brain morphology	339983	NAT8L	OMIM:614063
HP:0012443	Abnormal brain morphology	8879	SGPL1	OMIM:617575
HP:0012443	Abnormal brain morphology	8364	H4C3	OMIM:619758
HP:0012443	Abnormal brain morphology	145258	GSC	OMIM:602471
HP:0012443	Abnormal brain morphology	53335	BCL11A	OMIM:617101
HP:0012443	Abnormal brain morphology	54487	DGCR8	OMIM:192430
HP:0012443	Abnormal brain morphology	8214	DGCR6	OMIM:192430
HP:0012443	Abnormal brain morphology	8220	ESS2	OMIM:192430
HP:0012443	Abnormal brain morphology	9993	DGCR2	OMIM:192430
HP:0012443	Abnormal brain morphology	10463	SLC30A9	OMIM:617595
HP:0012443	Abnormal brain morphology	221078	NSUN6	OMIM:620779
HP:0012443	Abnormal brain morphology	78987	CRELD1	OMIM:620771
HP:0012443	Abnormal brain morphology	84706	GPT2	OMIM:616281
HP:0012443	Abnormal brain morphology	84706	GPT2	ORPHA:477673
HP:0012443	Abnormal brain morphology	6650	CAPN15	OMIM:619318
HP:0012443	Abnormal brain morphology	256297	PTF1A	OMIM:609069
HP:0012443	Abnormal brain morphology	221496	LEMD2	OMIM:619322
HP:0012443	Abnormal brain morphology	2530	FUT8	OMIM:618005
HP:0012443	Abnormal brain morphology	4141	MARS1	OMIM:620323
HP:0012443	Abnormal brain morphology	3913	LAMB2	OMIM:609049
HP:0012443	Abnormal brain morphology	8091	HMGA2	ORPHA:94063
HP:0012443	Abnormal brain morphology	23592	LEMD3	ORPHA:94063
HP:0012443	Abnormal brain morphology	26276	VPS33B	OMIM:208085
HP:0012443	Abnormal brain morphology	54681	P4HTM	OMIM:618493
HP:0012443	Abnormal brain morphology	5283	PIGH	OMIM:618010
HP:0012443	Abnormal brain morphology	9343	EFTUD2	OMIM:610536
HP:0012443	Abnormal brain morphology	64864	RFX7	OMIM:620330
HP:0012443	Abnormal brain morphology	37	ACADVL	OMIM:201475
HP:0012443	Abnormal brain morphology	5281	PIGF	OMIM:619356
HP:0012443	Abnormal brain morphology	29926	GMPPA	ORPHA:869
HP:0012443	Abnormal brain morphology	10681	GNB5	OMIM:617182
HP:0012443	Abnormal brain morphology	79143	MBOAT7	OMIM:617188
HP:0012443	Abnormal brain morphology	627	BDNF	ORPHA:893
HP:0012443	Abnormal brain morphology	23554	TSPAN12	ORPHA:891
HP:0012443	Abnormal brain morphology	79797	ZNF408	ORPHA:891
HP:0012443	Abnormal brain morphology	8322	FZD4	ORPHA:891
HP:0012443	Abnormal brain morphology	10295	BCKDK	OMIM:614923
HP:0012443	Abnormal brain morphology	11011	TLK2	OMIM:618050
HP:0012443	Abnormal brain morphology	5965	RECQL	OMIM:620370
HP:0012443	Abnormal brain morphology	267	AMFR	OMIM:620379
HP:0012443	Abnormal brain morphology	55532	SLC30A10	ORPHA:309854
HP:0012443	Abnormal brain morphology	8443	GNPAT	OMIM:222765
HP:0012443	Abnormal brain morphology	36	ACADSB	OMIM:610006
HP:0012443	Abnormal brain morphology	8546	AP3B1	OMIM:608233
HP:0012443	Abnormal brain morphology	51199	NIN	OMIM:614851
HP:0012443	Abnormal brain morphology	51199	NIN	ORPHA:319675
HP:0012443	Abnormal brain morphology	197257	LDHD	OMIM:245450
HP:0012443	Abnormal brain morphology	375748	ERCC6L2	OMIM:615715
HP:0012443	Abnormal brain morphology	5295	PIK3R1	ORPHA:397596
HP:0012443	Abnormal brain morphology	867	CBL	OMIM:613563
HP:0012443	Abnormal brain morphology	55670	PEX26	ORPHA:912
HP:0012443	Abnormal brain morphology	8504	PEX3	ORPHA:912
HP:0012443	Abnormal brain morphology	8799	PEX11B	ORPHA:912
HP:0012443	Abnormal brain morphology	5193	PEX12	ORPHA:912
HP:0012443	Abnormal brain morphology	5194	PEX13	ORPHA:912
HP:0012443	Abnormal brain morphology	5195	PEX14	ORPHA:912
HP:0012443	Abnormal brain morphology	10157	AASS	ORPHA:2203
HP:0012443	Abnormal brain morphology	5429	POLH	OMIM:278750
HP:0012443	Abnormal brain morphology	20	ABCA2	OMIM:618808
HP:0012443	Abnormal brain morphology	9419	CRIPT	OMIM:615789
HP:0012443	Abnormal brain morphology	2584	GALK1	ORPHA:79237
HP:0012443	Abnormal brain morphology	54870	QRICH1	OMIM:617982
HP:0012443	Abnormal brain morphology	6911	TBX6	ORPHA:1797
HP:0012443	Abnormal brain morphology	23397	NCAPH	OMIM:617985
HP:0012443	Abnormal brain morphology	158326	FREM1	OMIM:614485
HP:0012443	Abnormal brain morphology	1807	DPYS	OMIM:222748
HP:0012443	Abnormal brain morphology	9203	ZMYM3	OMIM:301111
HP:0012443	Abnormal brain morphology	23133	PHF8	OMIM:300263
HP:0012443	Abnormal brain morphology	51733	UPB1	OMIM:613161
HP:0012443	Abnormal brain morphology	23001	WDFY3	OMIM:617520
HP:0012443	Abnormal brain morphology	35	ACADS	ORPHA:26792
HP:0012443	Abnormal brain morphology	91452	ACBD5	OMIM:618863
HP:0012443	Abnormal brain morphology	51660	MPC1	OMIM:614741
HP:0012443	Abnormal brain morphology	54862	CC2D1A	OMIM:608443
HP:0012443	Abnormal brain morphology	203190	LGI3	OMIM:620007
HP:0012443	Abnormal brain morphology	6909	TBX2	OMIM:618223
HP:0012443	Abnormal brain morphology	5122	PCSK1	ORPHA:71528
HP:0012443	Abnormal brain morphology	5443	POMC	ORPHA:71526
HP:0012443	Abnormal brain morphology	5443	POMC	OMIM:609734
HP:0012443	Abnormal brain morphology	9581	PREPL	OMIM:616224
HP:0012443	Abnormal brain morphology	5308	PITX2	OMIM:180500
HP:0012443	Abnormal brain morphology	7840	ALMS1	OMIM:203800
HP:0012443	Abnormal brain morphology	7840	ALMS1	ORPHA:64
HP:0012443	Abnormal brain morphology	9056	SLC7A7	ORPHA:470
HP:0012443	Abnormal brain morphology	2887	GRB10	ORPHA:96182
HP:0012443	Abnormal brain morphology	2317	FLNB	ORPHA:1263
HP:0012443	Abnormal brain morphology	695	BTK	OMIM:307200
HP:0012443	Abnormal brain morphology	60401	EDA2R	ORPHA:181
HP:0012443	Abnormal brain morphology	1896	EDA	ORPHA:181
HP:0012443	Abnormal brain morphology	8626	TP63	ORPHA:1896
HP:0012443	Abnormal brain morphology	81848	SPRY4	ORPHA:478
HP:0012443	Abnormal brain morphology	23767	FLRT3	ORPHA:478
HP:0012443	Abnormal brain morphology	79625	NDNF	ORPHA:478
HP:0012443	Abnormal brain morphology	389549	FEZF1	ORPHA:478
HP:0012443	Abnormal brain morphology	54756	IL17RD	ORPHA:478
HP:0012443	Abnormal brain morphology	285025	CCDC141	ORPHA:478
HP:0012443	Abnormal brain morphology	1848	DUSP6	ORPHA:478
HP:0012443	Abnormal brain morphology	6870	TACR3	ORPHA:478
HP:0012443	Abnormal brain morphology	55717	WDR11	ORPHA:478
HP:0012443	Abnormal brain morphology	8822	FGF17	ORPHA:478
HP:0012443	Abnormal brain morphology	668	FOXL2	OMIM:110100
HP:0012443	Abnormal brain morphology	2492	FSHR	ORPHA:64739
HP:0012443	Abnormal brain morphology	2492	FSHR	ORPHA:243
HP:0012443	Abnormal brain morphology	2492	FSHR	OMIM:233300
HP:0012443	Abnormal brain morphology	7490	WT1	ORPHA:347
HP:0012443	Abnormal brain morphology	7490	WT1	ORPHA:251510
HP:0012443	Abnormal brain morphology	3973	LHCGR	OMIM:238320
HP:0012443	Abnormal brain morphology	29893	PSMC3IP	ORPHA:243
HP:0012443	Abnormal brain morphology	171568	POLR3H	ORPHA:243
HP:0012443	Abnormal brain morphology	2516	NR5A1	ORPHA:243
HP:0012443	Abnormal brain morphology	2516	NR5A1	ORPHA:251510
HP:0012443	Abnormal brain morphology	2516	NR5A1	ORPHA:399805
HP:0012443	Abnormal brain morphology	125150	ZSWIM7	ORPHA:243
HP:0012443	Abnormal brain morphology	9210	BMP15	ORPHA:243
HP:0012443	Abnormal brain morphology	23514	SPIDR	ORPHA:243
HP:0012443	Abnormal brain morphology	646	BNC1	ORPHA:243
HP:0012443	Abnormal brain morphology	4438	MSH4	ORPHA:243
HP:0012443	Abnormal brain morphology	2099	ESR1	ORPHA:785
HP:0012443	Abnormal brain morphology	23395	LARS2	OMIM:615300
HP:0012443	Abnormal brain morphology	6736	SRY	ORPHA:1772
HP:0012443	Abnormal brain morphology	6736	SRY	ORPHA:251510
HP:0012443	Abnormal brain morphology	6845	VAMP7	ORPHA:251510
HP:0012443	Abnormal brain morphology	4214	MAP3K1	ORPHA:251510
HP:0012443	Abnormal brain morphology	23414	ZFPM2	ORPHA:251510
HP:0012443	Abnormal brain morphology	190	NR0B1	ORPHA:251510
HP:0012443	Abnormal brain morphology	56154	TEX15	ORPHA:399805
HP:0012443	Abnormal brain morphology	6875	TAF4B	ORPHA:399805
HP:0012443	Abnormal brain morphology	254528	MEIOB	ORPHA:399805
HP:0012443	Abnormal brain morphology	10734	STAG3	ORPHA:399805
HP:0012443	Abnormal brain morphology	145645	TERB2	ORPHA:399805
HP:0012443	Abnormal brain morphology	54967	CT55	ORPHA:399805
HP:0012443	Abnormal brain morphology	4439	MSH5	ORPHA:399805
HP:0012443	Abnormal brain morphology	283847	TERB1	ORPHA:399805
HP:0012443	Abnormal brain morphology	402381	SOHLH1	ORPHA:399805
HP:0012443	Abnormal brain morphology	56159	TEX11	ORPHA:399805
HP:0012443	Abnormal brain morphology	144132	DNHD1	ORPHA:399805
HP:0012443	Abnormal brain morphology	1080	CFTR	ORPHA:399805
HP:0012443	Abnormal brain morphology	50511	SYCP3	ORPHA:399805
HP:0012443	Abnormal brain morphology	285498	RNF212	ORPHA:399805
HP:0012443	Abnormal brain morphology	54456	MOV10L1	ORPHA:399805
HP:0012443	Abnormal brain morphology	56155	TEX14	ORPHA:399805
HP:0012443	Abnormal brain morphology	91057	CCDC34	ORPHA:399805
HP:0012443	Abnormal brain morphology	375307	CATIP	ORPHA:399805
HP:0012443	Abnormal brain morphology	196385	DNAH10	ORPHA:399805
HP:0012443	Abnormal brain morphology	140801	RPL10L	ORPHA:399805
HP:0012443	Abnormal brain morphology	317719	KLHL10	ORPHA:399805
HP:0012443	Abnormal brain morphology	200162	SPAG17	ORPHA:399805
HP:0012443	Abnormal brain morphology	84225	ZMYND15	ORPHA:399805
HP:0012443	Abnormal brain morphology	122402	TDRD9	ORPHA:399805
HP:0012443	Abnormal brain morphology	154197	PNLDC1	ORPHA:399805
HP:0012443	Abnormal brain morphology	93426	SYCE1	ORPHA:399805
HP:0012443	Abnormal brain morphology	340719	NANOS1	ORPHA:399805
HP:0012443	Abnormal brain morphology	286151	FBXO43	ORPHA:399805
HP:0012443	Abnormal brain morphology	158401	SHOC1	ORPHA:399805
HP:0012443	Abnormal brain morphology	5161	PDHA2	ORPHA:399805
HP:0012443	Abnormal brain morphology	1586	CYP17A1	ORPHA:90793
HP:0012443	Abnormal brain morphology	50846	DHH	ORPHA:168563
HP:0012443	Abnormal brain morphology	1027	CDKN1B	ORPHA:652
HP:0012443	Abnormal brain morphology	1027	CDKN1B	OMIM:610755
HP:0012443	Abnormal brain morphology	1027	CDKN1B	ORPHA:276152
HP:0012443	Abnormal brain morphology	1026	CDKN1A	ORPHA:652
HP:0012443	Abnormal brain morphology	1030	CDKN2B	ORPHA:652
HP:0012443	Abnormal brain morphology	1031	CDKN2C	ORPHA:652
HP:0012443	Abnormal brain morphology	3248	HPGD	ORPHA:2796
HP:0012443	Abnormal brain morphology	6578	SLCO2A1	ORPHA:2796
HP:0012443	Abnormal brain morphology	3767	KCNJ11	ORPHA:79644
HP:0012443	Abnormal brain morphology	3479	IGF1	OMIM:608747
HP:0012443	Abnormal brain morphology	55154	MSTO1	OMIM:617675
HP:0012443	Abnormal brain morphology	55154	MSTO1	ORPHA:502423
HP:0012443	Abnormal brain morphology	5618	PRLR	OMIM:615555
HP:0012443	Abnormal brain morphology	7201	TRHR	ORPHA:99832
HP:0012443	Abnormal brain morphology	1644	DDC	ORPHA:35708
HP:0012443	Abnormal brain morphology	7252	TSHB	ORPHA:90674
HP:0012443	Abnormal brain morphology	23646	PLD3	OMIM:617770
HP:0012443	Abnormal brain morphology	55703	POLR3B	OMIM:614381
HP:0012443	Abnormal brain morphology	55703	POLR3B	OMIM:619742
HP:0012443	Abnormal brain morphology	55703	POLR3B	OMIM:607694
HP:0012443	Abnormal brain morphology	201595	STT3B	OMIM:615597
HP:0012443	Abnormal brain morphology	201595	STT3B	ORPHA:370924
HP:0012443	Abnormal brain morphology	6687	SPG7	ORPHA:99013
HP:0012443	Abnormal brain morphology	6687	SPG7	OMIM:607259
HP:0012443	Abnormal brain morphology	10908	PNPLA6	ORPHA:139480
HP:0012443	Abnormal brain morphology	10908	PNPLA6	OMIM:215470
HP:0012443	Abnormal brain morphology	10908	PNPLA6	OMIM:612020
HP:0012443	Abnormal brain morphology	65993	MRPS34	OMIM:617664
HP:0012443	Abnormal brain morphology	10528	NOP56	OMIM:614153
HP:0012443	Abnormal brain morphology	56997	COQ8A	ORPHA:139485
HP:0012443	Abnormal brain morphology	56997	COQ8A	OMIM:612016
HP:0012443	Abnormal brain morphology	10026	PIGK	OMIM:618879
HP:0012443	Abnormal brain morphology	3145	HMBS	OMIM:620711
HP:0012443	Abnormal brain morphology	10501	SEMA6B	OMIM:618876
HP:0012443	Abnormal brain morphology	146057	TTBK2	OMIM:604432
HP:0012443	Abnormal brain morphology	219285	SAMD9L	OMIM:159550
HP:0012443	Abnormal brain morphology	219285	SAMD9L	ORPHA:2585
HP:0012443	Abnormal brain morphology	219285	SAMD9L	OMIM:619806
HP:0012443	Abnormal brain morphology	816	CAMK2B	OMIM:617799
HP:0012443	Abnormal brain morphology	10939	AFG3L2	ORPHA:313772
HP:0012443	Abnormal brain morphology	10939	AFG3L2	OMIM:610246
HP:0012443	Abnormal brain morphology	10939	AFG3L2	OMIM:614487
HP:0012443	Abnormal brain morphology	343641	TGM6	ORPHA:276193
HP:0012443	Abnormal brain morphology	343641	TGM6	OMIM:613908
HP:0012443	Abnormal brain morphology	2744	GLS	OMIM:618412
HP:0012443	Abnormal brain morphology	6712	SPTBN2	OMIM:615386
HP:0012443	Abnormal brain morphology	6712	SPTBN2	OMIM:600224
HP:0012443	Abnormal brain morphology	6712	SPTBN2	ORPHA:98766
HP:0012443	Abnormal brain morphology	6712	SPTBN2	ORPHA:352403
HP:0012443	Abnormal brain morphology	54840	APTX	OMIM:208920
HP:0012443	Abnormal brain morphology	79731	NARS2	OMIM:616239
HP:0012443	Abnormal brain morphology	950	SCARB2	OMIM:254900
HP:0012443	Abnormal brain morphology	55280	CWF19L1	OMIM:616127
HP:0012443	Abnormal brain morphology	150468	CKAP2L	OMIM:272440
HP:0012443	Abnormal brain morphology	3766	KCNJ10	ORPHA:199343
HP:0012443	Abnormal brain morphology	3766	KCNJ10	OMIM:612780
HP:0012443	Abnormal brain morphology	55210	ATAD3A	ORPHA:496790
HP:0012443	Abnormal brain morphology	55210	ATAD3A	OMIM:617183
HP:0012443	Abnormal brain morphology	9533	POLR1C	OMIM:616494
HP:0012443	Abnormal brain morphology	8733	GPAA1	ORPHA:529665
HP:0012443	Abnormal brain morphology	8733	GPAA1	OMIM:617810
HP:0012443	Abnormal brain morphology	2232	FDXR	ORPHA:543470
HP:0012443	Abnormal brain morphology	56947	MFF	ORPHA:485421
HP:0012443	Abnormal brain morphology	56947	MFF	OMIM:617086
HP:0012443	Abnormal brain morphology	23400	ATP13A2	OMIM:617225
HP:0012443	Abnormal brain morphology	23400	ATP13A2	ORPHA:513436
HP:0012443	Abnormal brain morphology	57466	SCAF4	OMIM:620511
HP:0012443	Abnormal brain morphology	146227	BEAN1	ORPHA:217012
HP:0012443	Abnormal brain morphology	146227	BEAN1	OMIM:117210
HP:0012443	Abnormal brain morphology	51651	PTRH2	OMIM:616263
HP:0012443	Abnormal brain morphology	197258	FCSK	OMIM:618324
HP:0012443	Abnormal brain morphology	125988	MICOS13	OMIM:618329
HP:0012443	Abnormal brain morphology	57192	MCOLN1	OMIM:252650
HP:0012443	Abnormal brain morphology	85300	ATCAY	OMIM:601238
HP:0012443	Abnormal brain morphology	5111	PCNA	ORPHA:438134
HP:0012443	Abnormal brain morphology	5111	PCNA	OMIM:615919
HP:0012443	Abnormal brain morphology	11232	POLG2	OMIM:619425
HP:0012443	Abnormal brain morphology	11232	POLG2	ORPHA:254892
HP:0012443	Abnormal brain morphology	11232	POLG2	OMIM:610131
HP:0012443	Abnormal brain morphology	6792	CDKL5	ORPHA:1934
HP:0012443	Abnormal brain morphology	3736	KCNA1	ORPHA:1934
HP:0012443	Abnormal brain morphology	3736	KCNA1	ORPHA:37612
HP:0012443	Abnormal brain morphology	81603	TRIM8	ORPHA:1934
HP:0012443	Abnormal brain morphology	150094	SIK1	ORPHA:1934
HP:0012443	Abnormal brain morphology	23312	DMXL2	ORPHA:1934
HP:0012443	Abnormal brain morphology	51227	PIGP	ORPHA:1934
HP:0012443	Abnormal brain morphology	291	SLC25A4	ORPHA:254892
HP:0012443	Abnormal brain morphology	6507	SLC1A3	ORPHA:209967
HP:0012443	Abnormal brain morphology	6507	SLC1A3	OMIM:612656
HP:0012443	Abnormal brain morphology	6548	SLC9A1	OMIM:616291
HP:0012443	Abnormal brain morphology	55610	VPS50	OMIM:619685
HP:0012443	Abnormal brain morphology	23114	NFASC	OMIM:618356
HP:0012443	Abnormal brain morphology	6647	SOD1	OMIM:618598
HP:0012443	Abnormal brain morphology	92667	MGME1	OMIM:615084
HP:0012443	Abnormal brain morphology	92667	MGME1	ORPHA:352447
HP:0012443	Abnormal brain morphology	25814	ATXN10	OMIM:603516
HP:0012443	Abnormal brain morphology	25814	ATXN10	ORPHA:98761
HP:0012443	Abnormal brain morphology	10073	SNUPN	OMIM:620793
HP:0012443	Abnormal brain morphology	25929	GEMIN5	OMIM:619333
HP:0012443	Abnormal brain morphology	56915	EXOSC5	OMIM:619576
HP:0012443	Abnormal brain morphology	3746	KCNC1	OMIM:616187
HP:0012443	Abnormal brain morphology	54834	GDAP2	OMIM:618369
HP:0012443	Abnormal brain morphology	51079	NDUFA13	OMIM:618249
HP:0012443	Abnormal brain morphology	463	ZFHX3	OMIM:600223
HP:0012443	Abnormal brain morphology	10524	KAT5	OMIM:619103
HP:0012443	Abnormal brain morphology	372	ARCN1	OMIM:617164
HP:0012443	Abnormal brain morphology	2705	GJB1	OMIM:302800
HP:0012443	Abnormal brain morphology	9256	TSPOAP1	OMIM:620453
HP:0012443	Abnormal brain morphology	79736	TEFM	OMIM:620451
HP:0012443	Abnormal brain morphology	1938	EEF2	ORPHA:101112
HP:0012443	Abnormal brain morphology	1938	EEF2	OMIM:609306
HP:0012443	Abnormal brain morphology	64849	SLC13A3	OMIM:618384
HP:0012443	Abnormal brain morphology	2799	GNS	OMIM:252940
HP:0012443	Abnormal brain morphology	383	ARG1	OMIM:207800
HP:0012443	Abnormal brain morphology	84274	COQ5	OMIM:619028
HP:0012443	Abnormal brain morphology	11342	RNF13	ORPHA:544503
HP:0012443	Abnormal brain morphology	64858	DCLRE1B	OMIM:620133
HP:0012443	Abnormal brain morphology	55129	ANO10	OMIM:613728
HP:0012443	Abnormal brain morphology	55129	ANO10	ORPHA:284289
HP:0012443	Abnormal brain morphology	25792	CIZ1	ORPHA:420492
HP:0012443	Abnormal brain morphology	64374	SIL1	OMIM:248800
HP:0012443	Abnormal brain morphology	4884	NPTX1	OMIM:620158
HP:0012443	Abnormal brain morphology	4509	MT-ATP8	ORPHA:254913
HP:0012443	Abnormal brain morphology	514	ATP5F1E	ORPHA:254913
HP:0012443	Abnormal brain morphology	513	ATP5F1D	ORPHA:254913
HP:0012443	Abnormal brain morphology	498	ATP5F1A	ORPHA:254913
HP:0012443	Abnormal brain morphology	84833	ATP5MK	ORPHA:254913
HP:0012443	Abnormal brain morphology	91647	ATPAF2	ORPHA:254913
HP:0012443	Abnormal brain morphology	5173	PDYN	OMIM:610245
HP:0012443	Abnormal brain morphology	823	CAPN1	OMIM:616907
HP:0012443	Abnormal brain morphology	7274	TTPA	ORPHA:96
HP:0012443	Abnormal brain morphology	7274	TTPA	OMIM:277460
HP:0012443	Abnormal brain morphology	80856	LNPK	OMIM:618090
HP:0012443	Abnormal brain morphology	7156	TOP3A	OMIM:618098
HP:0012443	Abnormal brain morphology	26090	ABHD12	OMIM:612674
HP:0012443	Abnormal brain morphology	1600	DAB1	OMIM:615945
HP:0012443	Abnormal brain morphology	10382	TUBB4A	OMIM:612438
HP:0012443	Abnormal brain morphology	2395	FXN	ORPHA:95
HP:0012443	Abnormal brain morphology	9711	RUBCN	OMIM:615705
HP:0012443	Abnormal brain morphology	7915	ALDH5A1	OMIM:271980
HP:0012443	Abnormal brain morphology	2259	FGF14	OMIM:620174
HP:0012443	Abnormal brain morphology	2259	FGF14	ORPHA:98764
HP:0012443	Abnormal brain morphology	2259	FGF14	OMIM:193003
HP:0012443	Abnormal brain morphology	3475	IFRD1	ORPHA:98771
HP:0012443	Abnormal brain morphology	3752	KCND3	ORPHA:98772
HP:0012443	Abnormal brain morphology	3752	KCND3	OMIM:607346
HP:0012443	Abnormal brain morphology	1267	CNP	OMIM:619071
HP:0012443	Abnormal brain morphology	3748	KCNC3	ORPHA:98768
HP:0012443	Abnormal brain morphology	3748	KCNC3	OMIM:605259
HP:0012443	Abnormal brain morphology	492	ATP2B3	OMIM:302500
HP:0012443	Abnormal brain morphology	255928	SYT14	ORPHA:284271
HP:0012443	Abnormal brain morphology	255928	SYT14	OMIM:614229
HP:0012443	Abnormal brain morphology	200403	VWA3B	OMIM:616948
HP:0012443	Abnormal brain morphology	79628	SH3TC2	ORPHA:99949
HP:0012443	Abnormal brain morphology	339453	TMEM240	OMIM:607454
HP:0012443	Abnormal brain morphology	1861	TOR1A	OMIM:128100
HP:0012443	Abnormal brain morphology	80207	OPA3	ORPHA:67036
HP:0012443	Abnormal brain morphology	55187	VPS13D	OMIM:607317
HP:0012443	Abnormal brain morphology	50	ACO2	OMIM:614559
HP:0012443	Abnormal brain morphology	27235	COQ2	OMIM:607426
HP:0012443	Abnormal brain morphology	63035	BCORL1	OMIM:301029
HP:0012443	Abnormal brain morphology	5582	PRKCG	OMIM:605361
HP:0012443	Abnormal brain morphology	5981	RFC1	OMIM:614575
HP:0012443	Abnormal brain morphology	7222	TRPC3	OMIM:616410
HP:0012443	Abnormal brain morphology	11154	AP4S1	ORPHA:280763
HP:0012443	Abnormal brain morphology	1203	CLN5	OMIM:256731
HP:0012443	Abnormal brain morphology	7515	XRCC1	OMIM:617633
HP:0012443	Abnormal brain morphology	23533	PIK3R5	OMIM:615217
HP:0012443	Abnormal brain morphology	87178	PNPT1	OMIM:608703
HP:0012443	Abnormal brain morphology	23404	EXOSC2	OMIM:617763
HP:0012443	Abnormal brain morphology	2196	FAT2	OMIM:617769
HP:0012443	Abnormal brain morphology	3476	IGBP1	OMIM:300472
HP:0012443	Abnormal brain morphology	3476	IGBP1	ORPHA:52055
HP:0012443	Abnormal brain morphology	1024	CDK8	OMIM:618748
HP:0012443	Abnormal brain morphology	2731	GLDC	OMIM:605899
HP:0012443	Abnormal brain morphology	116931	MED12L	OMIM:618872
HP:0012443	Abnormal brain morphology	9653	HS2ST1	OMIM:619194
HP:0012443	Abnormal brain morphology	129563	DIS3L2	OMIM:267000
HP:0012443	Abnormal brain morphology	2678	GGT1	OMIM:231950
HP:0012443	Abnormal brain morphology	64919	BCL11B	OMIM:617237
HP:0012443	Abnormal brain morphology	164	AP1G1	OMIM:619548
HP:0012443	Abnormal brain morphology	3313	HSPA9	OMIM:616854
HP:0012443	Abnormal brain morphology	2657	GDF1	OMIM:208530
HP:0012443	Abnormal brain morphology	8092	ALX1	ORPHA:306542
HP:0012443	Abnormal brain morphology	8449	DHX16	OMIM:618733
HP:0012443	Abnormal brain morphology	283450	HECTD4	OMIM:620250
HP:0012443	Abnormal brain morphology	7428	VHL	OMIM:263400
HP:0012443	Abnormal brain morphology	7428	VHL	ORPHA:892
HP:0012443	Abnormal brain morphology	6331	SCN5A	OMIM:614022
HP:0012443	Abnormal brain morphology	6331	SCN5A	OMIM:601154
HP:0012443	Abnormal brain morphology	7148	TNXB	ORPHA:230839
HP:0012443	Abnormal brain morphology	5009	OTC	OMIM:311250
HP:0012443	Abnormal brain morphology	4625	MYH7	ORPHA:1880
HP:0012443	Abnormal brain morphology	2997	GYS1	OMIM:611556
HP:0012443	Abnormal brain morphology	7174	TPP2	ORPHA:444463
HP:0012443	Abnormal brain morphology	2908	NR3C1	ORPHA:786
HP:0012443	Abnormal brain morphology	2908	NR3C1	ORPHA:96253
HP:0012443	Abnormal brain morphology	9342	SNAP29	ORPHA:66631
HP:0012443	Abnormal brain morphology	30008	EFEMP2	OMIM:614437
HP:0012443	Abnormal brain morphology	10560	SLC19A2	ORPHA:49827
HP:0012443	Abnormal brain morphology	10560	SLC19A2	OMIM:249270
HP:0012443	Abnormal brain morphology	11093	ADAMTS13	OMIM:274150
HP:0012443	Abnormal brain morphology	50940	PDE11A	ORPHA:1359
HP:0012443	Abnormal brain morphology	51816	ADA2	OMIM:182410
HP:0012443	Abnormal brain morphology	51816	ADA2	OMIM:615688
HP:0012443	Abnormal brain morphology	84196	USP48	ORPHA:96253
HP:0012443	Abnormal brain morphology	9101	USP8	ORPHA:96253
HP:0012443	Abnormal brain morphology	546	ATRX	ORPHA:96253
HP:0012443	Abnormal brain morphology	3043	HBB	OMIM:603903
HP:0012443	Abnormal brain morphology	9149	DYRK1B	OMIM:615812
HP:0012443	Abnormal brain morphology	4629	MYH11	OMIM:132900
HP:0012443	Abnormal brain morphology	4629	MYH11	ORPHA:229
HP:0012443	Abnormal brain morphology	4629	MYH11	ORPHA:91387
HP:0012443	Abnormal brain morphology	5346	PLIN1	OMIM:613877
HP:0012443	Abnormal brain morphology	55107	ANO1	OMIM:620687
HP:0012443	Abnormal brain morphology	2717	GLA	ORPHA:324
HP:0012443	Abnormal brain morphology	3291	HSD11B2	ORPHA:320
HP:0012443	Abnormal brain morphology	2318	FLNC	OMIM:617047
HP:0012443	Abnormal brain morphology	2318	FLNC	ORPHA:75249
HP:0012443	Abnormal brain morphology	4204	MECP2	ORPHA:3077
HP:0012443	Abnormal brain morphology	10370	CITED2	ORPHA:99105
HP:0012443	Abnormal brain morphology	10370	CITED2	ORPHA:99103
HP:0012443	Abnormal brain morphology	1471	CST3	OMIM:105150
HP:0012443	Abnormal brain morphology	1471	CST3	ORPHA:100008
HP:0012443	Abnormal brain morphology	7092	TLL1	ORPHA:99103
HP:0012443	Abnormal brain morphology	57057	TBX20	ORPHA:99103
HP:0012443	Abnormal brain morphology	4624	MYH6	ORPHA:99103
HP:0012443	Abnormal brain morphology	1482	NKX2-5	ORPHA:99103
HP:0012443	Abnormal brain morphology	70	ACTC1	ORPHA:99103
HP:0012443	Abnormal brain morphology	2626	GATA4	ORPHA:99103
HP:0012443	Abnormal brain morphology	2627	GATA6	ORPHA:99103
HP:0012443	Abnormal brain morphology	4607	MYBPC3	OMIM:115197
HP:0012443	Abnormal brain morphology	84665	MYPN	ORPHA:75249
HP:0012443	Abnormal brain morphology	7139	TNNT2	ORPHA:75249
HP:0012443	Abnormal brain morphology	10112	KIF20A	ORPHA:75249
HP:0012443	Abnormal brain morphology	83605	CCM2	OMIM:603284
HP:0012443	Abnormal brain morphology	189	AGXT	ORPHA:93598
HP:0012443	Abnormal brain morphology	10269	ZMPSTE24	ORPHA:740
HP:0012443	Abnormal brain morphology	64131	XYLT1	OMIM:264800
HP:0012443	Abnormal brain morphology	64132	XYLT2	OMIM:264800
HP:0012443	Abnormal brain morphology	80206	FHOD3	OMIM:619402
HP:0012443	Abnormal brain morphology	50485	SMARCAL1	ORPHA:1830
HP:0012443	Abnormal brain morphology	50485	SMARCAL1	OMIM:242900
HP:0012443	Abnormal brain morphology	7276	TTR	ORPHA:85451
HP:0012443	Abnormal brain morphology	182	JAG1	OMIM:118450
HP:0012443	Abnormal brain morphology	28976	ACAD9	OMIM:611126
HP:0012443	Abnormal brain morphology	51085	MLXIPL	OMIM:194050
HP:0012443	Abnormal brain morphology	595	CCND1	ORPHA:892
HP:0012443	Abnormal brain morphology	2147	F2	OMIM:601367
HP:0012443	Abnormal brain morphology	4846	NOS3	OMIM:601367
HP:0012443	Abnormal brain morphology	5583	PRKCH	OMIM:601367
HP:0012443	Abnormal brain morphology	2153	F5	OMIM:601367
HP:0012443	Abnormal brain morphology	241	ALOX5AP	OMIM:601367
HP:0012443	Abnormal brain morphology	727676	SNORD118	ORPHA:542310
HP:0012443	Abnormal brain morphology	162417	NAGS	ORPHA:927
HP:0012443	Abnormal brain morphology	445	ASS1	OMIM:215700
HP:0012443	Abnormal brain morphology	3593	IL12B	ORPHA:3287
HP:0012443	Abnormal brain morphology	3106	HLA-B	ORPHA:3287
HP:0012443	Abnormal brain morphology	6945	MLX	ORPHA:3287
HP:0012443	Abnormal brain morphology	5286	PIK3C2A	ORPHA:557003
HP:0012443	Abnormal brain morphology	4860	PNP	ORPHA:760
HP:0012443	Abnormal brain morphology	4615	MYD88	ORPHA:33226
HP:0012443	Abnormal brain morphology	4878	NPPA	OMIM:615745
HP:0012443	Abnormal brain morphology	1373	CPS1	OMIM:237300
HP:0012443	Abnormal brain morphology	7535	ZAP70	ORPHA:911
HP:0012443	Abnormal brain morphology	4015	LOX	ORPHA:91387
HP:0012443	Abnormal brain morphology	4087	SMAD2	ORPHA:91387
HP:0012443	Abnormal brain morphology	7043	TGFB3	ORPHA:91387
HP:0012443	Abnormal brain morphology	4088	SMAD3	ORPHA:91387
HP:0012443	Abnormal brain morphology	7042	TGFB2	ORPHA:91387
HP:0012443	Abnormal brain morphology	5592	PRKG1	ORPHA:91387
HP:0012443	Abnormal brain morphology	2301	FOXE3	ORPHA:91387
HP:0012443	Abnormal brain morphology	4144	MAT2A	ORPHA:91387
HP:0012443	Abnormal brain morphology	23493	HEY2	ORPHA:91387
HP:0012443	Abnormal brain morphology	8076	MFAP5	ORPHA:91387
HP:0012443	Abnormal brain morphology	4638	MYLK	ORPHA:91387
HP:0012443	Abnormal brain morphology	79875	THSD4	ORPHA:91387
HP:0012443	Abnormal brain morphology	4594	MMUT	ORPHA:79312
HP:0012443	Abnormal brain morphology	23417	MLYCD	OMIM:248360
HP:0012443	Abnormal brain morphology	10716	TBR1	OMIM:606053
HP:0012443	Abnormal brain morphology	9508	ADAMTS3	ORPHA:2136
HP:0012443	Abnormal brain morphology	147372	CCBE1	ORPHA:2136
HP:0012443	Abnormal brain morphology	147372	CCBE1	OMIM:235510
HP:0012443	Abnormal brain morphology	84978	FRMD5	OMIM:620094
HP:0012443	Abnormal brain morphology	2110	ETFDH	OMIM:231680
HP:0012443	Abnormal brain morphology	2108	ETFA	OMIM:231680
HP:0012443	Abnormal brain morphology	2109	ETFB	OMIM:231680
HP:0012443	Abnormal brain morphology	6597	SMARCA4	ORPHA:1465
HP:0012443	Abnormal brain morphology	6597	SMARCA4	OMIM:614609
HP:0012443	Abnormal brain morphology	6659	SOX4	ORPHA:1465
HP:0012443	Abnormal brain morphology	8289	ARID1A	ORPHA:1465
HP:0012443	Abnormal brain morphology	8289	ARID1A	OMIM:614607
HP:0012443	Abnormal brain morphology	5977	DPF2	ORPHA:1465
HP:0012443	Abnormal brain morphology	6602	SMARCD1	ORPHA:1465
HP:0012443	Abnormal brain morphology	196528	ARID2	ORPHA:1465
HP:0012443	Abnormal brain morphology	6664	SOX11	ORPHA:1465
HP:0012443	Abnormal brain morphology	23545	ATP6V0A2	ORPHA:2834
HP:0012443	Abnormal brain morphology	23545	ATP6V0A2	OMIM:219200
HP:0012443	Abnormal brain morphology	23545	ATP6V0A2	ORPHA:357074
HP:0012443	Abnormal brain morphology	10804	GJB6	ORPHA:477
HP:0012443	Abnormal brain morphology	2706	GJB2	ORPHA:477
HP:0012443	Abnormal brain morphology	4927	NUP88	ORPHA:994
HP:0012443	Abnormal brain morphology	4654	MYOD1	ORPHA:994
HP:0012443	Abnormal brain morphology	5913	RAPSN	ORPHA:994
HP:0012443	Abnormal brain morphology	6572	SLC18A3	ORPHA:994
HP:0012443	Abnormal brain morphology	285489	DOK7	ORPHA:994
HP:0012443	Abnormal brain morphology	54880	BCOR	OMIM:300166
HP:0012443	Abnormal brain morphology	132884	EVC2	OMIM:225500
HP:0012443	Abnormal brain morphology	2121	EVC	OMIM:225500
HP:0012443	Abnormal brain morphology	529	ATP6V1E1	ORPHA:357074
HP:0012443	Abnormal brain morphology	3798	KIF5A	OMIM:617235
HP:0012443	Abnormal brain morphology	1028	CDKN1C	OMIM:130650
HP:0012443	Abnormal brain morphology	3481	IGF2	OMIM:130650
HP:0012443	Abnormal brain morphology	3784	KCNQ1	OMIM:130650
HP:0012443	Abnormal brain morphology	10984	KCNQ1OT1	OMIM:130650
HP:0012443	Abnormal brain morphology	9420	CYP7B1	ORPHA:100986
HP:0012443	Abnormal brain morphology	9420	CYP7B1	OMIM:270800
HP:0012443	Abnormal brain morphology	8022	LHX3	ORPHA:226307
HP:0012443	Abnormal brain morphology	10613	ERLIN1	ORPHA:401785
HP:0012443	Abnormal brain morphology	10613	ERLIN1	OMIM:615681
HP:0012443	Abnormal brain morphology	23503	ZFYVE26	OMIM:270700
HP:0012443	Abnormal brain morphology	23503	ZFYVE26	ORPHA:100996
HP:0012443	Abnormal brain morphology	5521	PPP2R2B	ORPHA:98762
HP:0012443	Abnormal brain morphology	10280	SIGMAR1	ORPHA:300605
HP:0012443	Abnormal brain morphology	10558	SPTLC1	ORPHA:300605
HP:0012443	Abnormal brain morphology	57679	ALS2	ORPHA:300605
HP:0012443	Abnormal brain morphology	6609	SMPD1	ORPHA:77293
HP:0012443	Abnormal brain morphology	84668	HYCC1	ORPHA:85163
HP:0012443	Abnormal brain morphology	84668	HYCC1	OMIM:610532
HP:0012443	Abnormal brain morphology	55157	DARS2	ORPHA:137898
HP:0012443	Abnormal brain morphology	128637	TBC1D20	ORPHA:2510
HP:0012443	Abnormal brain morphology	3119	HLA-DQB1	OMIM:123400
HP:0012443	Abnormal brain morphology	5832	ALDH18A1	ORPHA:447753
HP:0012443	Abnormal brain morphology	10483	SEC23B	ORPHA:201
HP:0012443	Abnormal brain morphology	6390	SDHB	ORPHA:201
HP:0012443	Abnormal brain morphology	6392	SDHD	ORPHA:201
HP:0012443	Abnormal brain morphology	6391	SDHC	ORPHA:201
HP:0012443	Abnormal brain morphology	205717	USF3	ORPHA:201
HP:0012443	Abnormal brain morphology	100144748	KLLN	ORPHA:201
HP:0012443	Abnormal brain morphology	2583	B4GALNT1	ORPHA:101006
HP:0012443	Abnormal brain morphology	51324	SPG21	ORPHA:101001
HP:0012443	Abnormal brain morphology	80331	DNAJC5	OMIM:162350
HP:0012443	Abnormal brain morphology	22884	WDR37	OMIM:618652
HP:0012443	Abnormal brain morphology	221927	BRAT1	OMIM:618056
HP:0012443	Abnormal brain morphology	1201	CLN3	OMIM:204200
HP:0012443	Abnormal brain morphology	81790	RNF170	OMIM:608984
HP:0012443	Abnormal brain morphology	113278	SLC52A3	OMIM:211530
HP:0012443	Abnormal brain morphology	2355	FOSL2	OMIM:620789
HP:0012443	Abnormal brain morphology	22897	CEP164	OMIM:614845
HP:0012443	Abnormal brain morphology	54974	THG1L	OMIM:618800
HP:0012443	Abnormal brain morphology	2296	FOXC1	OMIM:602482
HP:0012443	Abnormal brain morphology	2296	FOXC1	OMIM:601631
HP:0012443	Abnormal brain morphology	9690	UBE3C	OMIM:620270
HP:0012443	Abnormal brain morphology	51506	UFC1	OMIM:618076
HP:0012443	Abnormal brain morphology	83871	RAB34	OMIM:620718
HP:0012443	Abnormal brain morphology	9474	ATG5	OMIM:617584
HP:0012443	Abnormal brain morphology	29929	ALG6	ORPHA:79320
HP:0012443	Abnormal brain morphology	157922	CAMSAP1	OMIM:620316
HP:0012443	Abnormal brain morphology	26007	TKFC	OMIM:618805
HP:0012443	Abnormal brain morphology	3188	HNRNPH2	OMIM:300986
HP:0012443	Abnormal brain morphology	51124	IER3IP1	OMIM:614231
HP:0012443	Abnormal brain morphology	7291	TWIST1	OMIM:617746
HP:0012443	Abnormal brain morphology	55074	OXR1	OMIM:213000
HP:0012443	Abnormal brain morphology	18	ABAT	OMIM:613163
HP:0012443	Abnormal brain morphology	10491	CRTAP	ORPHA:2050
HP:0012443	Abnormal brain morphology	51095	TRNT1	OMIM:616084
HP:0012443	Abnormal brain morphology	9231	DLG5	OMIM:620703
HP:0012443	Abnormal brain morphology	6513	SLC2A1	ORPHA:168577
HP:0012443	Abnormal brain morphology	4125	MAN2B1	ORPHA:309282
HP:0012443	Abnormal brain morphology	9578	CDC42BPB	OMIM:619841
HP:0012443	Abnormal brain morphology	29128	UHRF1	ORPHA:2268
HP:0012443	Abnormal brain morphology	3070	HELLS	ORPHA:2268
HP:0012443	Abnormal brain morphology	1789	DNMT3B	ORPHA:2268
HP:0012443	Abnormal brain morphology	83879	CDCA7	ORPHA:2268
HP:0012443	Abnormal brain morphology	9841	ZBTB24	ORPHA:2268
HP:0012443	Abnormal brain morphology	6938	TCF12	OMIM:615314
HP:0012443	Abnormal brain morphology	7143	TNR	OMIM:619653
HP:0012443	Abnormal brain morphology	412	STS	ORPHA:281090
HP:0012443	Abnormal brain morphology	7161	TP73	OMIM:619466
HP:0012443	Abnormal brain morphology	3730	ANOS1	OMIM:308700
HP:0012443	Abnormal brain morphology	1908	EDN3	ORPHA:897
HP:0012443	Abnormal brain morphology	4286	MITF	ORPHA:897
HP:0012443	Abnormal brain morphology	1910	EDNRB	ORPHA:897
HP:0012443	Abnormal brain morphology	2057	EPOR	OMIM:133100
HP:0012443	Abnormal brain morphology	2132	EXT2	OMIM:616682
HP:0012443	Abnormal brain morphology	2677	GGCX	OMIM:277450
HP:0012443	Abnormal brain morphology	55654	TMEM127	OMIM:171300
HP:0012443	Abnormal brain morphology	55654	TMEM127	ORPHA:29072
HP:0012443	Abnormal brain morphology	5979	RET	OMIM:171300
HP:0012443	Abnormal brain morphology	5979	RET	ORPHA:29072
HP:0012443	Abnormal brain morphology	5979	RET	ORPHA:276621
HP:0012443	Abnormal brain morphology	1743	DLST	ORPHA:29072
HP:0012443	Abnormal brain morphology	23095	KIF1B	ORPHA:29072
HP:0012443	Abnormal brain morphology	8402	SLC25A11	ORPHA:29072
HP:0012443	Abnormal brain morphology	54949	SDHAF2	ORPHA:29072
HP:0012443	Abnormal brain morphology	3032	HADHB	OMIM:620300
HP:0012443	Abnormal brain morphology	2335	FN1	ORPHA:84090
HP:0012443	Abnormal brain morphology	2243	FGA	ORPHA:98880
HP:0012443	Abnormal brain morphology	2244	FGB	ORPHA:98880
HP:0012443	Abnormal brain morphology	2266	FGG	ORPHA:98880
HP:0012443	Abnormal brain morphology	3075	CFH	ORPHA:244242
HP:0012443	Abnormal brain morphology	3426	CFI	ORPHA:244242
HP:0012443	Abnormal brain morphology	4179	CD46	ORPHA:244242
HP:0012443	Abnormal brain morphology	101101692	HELLPAR	ORPHA:244242
HP:0012443	Abnormal brain morphology	58	ACTA1	OMIM:620278
HP:0012443	Abnormal brain morphology	2165	F13B	ORPHA:331
HP:0012443	Abnormal brain morphology	442721	LMOD2	OMIM:619897
HP:0012443	Abnormal brain morphology	2034	EPAS1	ORPHA:276621
HP:0012443	Abnormal brain morphology	9103	FCGR2C	ORPHA:3002
HP:0012443	Abnormal brain morphology	2582	GALE	OMIM:620776
HP:0012443	Abnormal brain morphology	54658	UGT1A1	OMIM:218800
HP:0012443	Abnormal brain morphology	54658	UGT1A1	OMIM:237900
HP:0012443	Abnormal brain morphology	54658	UGT1A1	ORPHA:79234
HP:0012443	Abnormal brain morphology	6007	RHD	OMIM:619462
HP:0012443	Abnormal brain morphology	6611	SMS	ORPHA:3063
HP:0012443	Abnormal brain morphology	116442	RAB39B	OMIM:311510
HP:0012443	Abnormal brain morphology	23209	MLC1	OMIM:604004
HP:0012443	Abnormal brain morphology	8738	CRADD	OMIM:614499
HP:0012443	Abnormal brain morphology	2737	GLI3	ORPHA:672
HP:0012443	Abnormal brain morphology	2737	GLI3	OMIM:146510
HP:0012443	Abnormal brain morphology	5396	PRRX1	ORPHA:990
HP:0012443	Abnormal brain morphology	5396	PRRX1	OMIM:202650
HP:0012443	Abnormal brain morphology	5015	OTX2	ORPHA:990
HP:0012443	Abnormal brain morphology	5015	OTX2	ORPHA:95494
HP:0012443	Abnormal brain morphology	27238	GPKOW	ORPHA:2570
HP:0012443	Abnormal brain morphology	4659	PPP1R12A	OMIM:618820
HP:0012443	Abnormal brain morphology	50937	CDON	OMIM:614226
HP:0012443	Abnormal brain morphology	50937	CDON	ORPHA:280200
HP:0012443	Abnormal brain morphology	79770	TXNDC15	OMIM:619879
HP:0012443	Abnormal brain morphology	2218	FKTN	OMIM:253800
HP:0012443	Abnormal brain morphology	2218	FKTN	ORPHA:588
HP:0012443	Abnormal brain morphology	2261	FGFR3	ORPHA:93274
HP:0012443	Abnormal brain morphology	148789	B3GALNT2	ORPHA:588
HP:0012443	Abnormal brain morphology	9215	LARGE1	ORPHA:588
HP:0012443	Abnormal brain morphology	729920	CRPPA	ORPHA:588
HP:0012443	Abnormal brain morphology	6469	SHH	OMIM:611638
HP:0012443	Abnormal brain morphology	6469	SHH	ORPHA:280200
HP:0012443	Abnormal brain morphology	6469	SHH	OMIM:147250
HP:0012443	Abnormal brain morphology	6469	SHH	OMIM:142945
HP:0012443	Abnormal brain morphology	5727	PTCH1	OMIM:610828
HP:0012443	Abnormal brain morphology	5727	PTCH1	ORPHA:280200
HP:0012443	Abnormal brain morphology	2736	GLI2	OMIM:610829
HP:0012443	Abnormal brain morphology	2736	GLI2	ORPHA:95494
HP:0012443	Abnormal brain morphology	2736	GLI2	ORPHA:280200
HP:0012443	Abnormal brain morphology	5626	PROP1	ORPHA:95494
HP:0012443	Abnormal brain morphology	89884	LHX4	ORPHA:95494
HP:0012443	Abnormal brain morphology	3170	FOXA2	ORPHA:95494
HP:0012443	Abnormal brain morphology	5449	POU1F1	ORPHA:95494
HP:0012443	Abnormal brain morphology	8820	HESX1	ORPHA:95494
HP:0012443	Abnormal brain morphology	6299	SALL1	OMIM:107480
HP:0012443	Abnormal brain morphology	3199	HOXA2	ORPHA:83463
HP:0012443	Abnormal brain morphology	22858	CILK1	OMIM:612651
HP:0012443	Abnormal brain morphology	1717	DHCR7	ORPHA:818
HP:0012443	Abnormal brain morphology	1717	DHCR7	OMIM:270400
HP:0012443	Abnormal brain morphology	55636	CHD7	ORPHA:138
HP:0012443	Abnormal brain morphology	55636	CHD7	OMIM:214800
HP:0012443	Abnormal brain morphology	9723	SEMA3E	ORPHA:138
HP:0012443	Abnormal brain morphology	2260	FGFR1	ORPHA:280200
HP:0012443	Abnormal brain morphology	2253	FGF8	ORPHA:280200
HP:0012443	Abnormal brain morphology	6496	SIX3	ORPHA:280200
HP:0012443	Abnormal brain morphology	6496	SIX3	OMIM:157170
HP:0012443	Abnormal brain morphology	7050	TGIF1	ORPHA:280200
HP:0012443	Abnormal brain morphology	4838	NODAL	ORPHA:280200
HP:0012443	Abnormal brain morphology	51684	SUFU	ORPHA:280200
HP:0012443	Abnormal brain morphology	7546	ZIC2	ORPHA:280200
HP:0012443	Abnormal brain morphology	7546	ZIC2	OMIM:609637
HP:0012443	Abnormal brain morphology	2619	GAS1	ORPHA:280200
HP:0012443	Abnormal brain morphology	84976	DISP1	ORPHA:280200
HP:0012443	Abnormal brain morphology	8928	FOXH1	ORPHA:280200
HP:0012443	Abnormal brain morphology	6997	CRIPTO	ORPHA:280200
HP:0012443	Abnormal brain morphology	6657	SOX2	ORPHA:77298
HP:0012443	Abnormal brain morphology	23007	PLCH1	OMIM:619895
HP:0012443	Abnormal brain morphology	5925	RB1	ORPHA:1587
HP:0012443	Abnormal brain morphology	9184	BUB3	ORPHA:1052
HP:0012443	Abnormal brain morphology	699	BUB1	ORPHA:1052
HP:0012443	Abnormal brain morphology	9702	CEP57	ORPHA:1052
HP:0012443	Abnormal brain morphology	9319	TRIP13	ORPHA:1052
HP:0012443	Abnormal brain morphology	701	BUB1B	ORPHA:1052
HP:0012443	Abnormal brain morphology	3897	L1CAM	ORPHA:2182
HP:0012443	Abnormal brain morphology	124997	WDR81	OMIM:617967
HP:0012443	Abnormal brain morphology	26005	C2CD3	OMIM:615948
HP:0012443	Abnormal brain morphology	5274	SERPINI1	OMIM:604218
HP:0012443	Abnormal brain morphology	10749	KIF1C	ORPHA:397946
HP:0012443	Abnormal brain morphology	10749	KIF1C	OMIM:611302
HP:0012443	Abnormal brain morphology	6515	SLC2A3	ORPHA:399
HP:0012443	Abnormal brain morphology	1497	CTNS	OMIM:219800
HP:0012443	Abnormal brain morphology	10617	STAMBP	OMIM:614261
HP:0012443	Abnormal brain morphology	5723	PSPH	OMIM:614023
HP:0012443	Abnormal brain morphology	51569	UFM1	OMIM:617899
HP:0012443	Abnormal brain morphology	60684	TRAPPC11	OMIM:615356
HP:0012443	Abnormal brain morphology	60684	TRAPPC11	ORPHA:369847
HP:0012443	Abnormal brain morphology	57165	GJC2	OMIM:608804
HP:0012443	Abnormal brain morphology	3074	HEXB	ORPHA:309162
HP:0012443	Abnormal brain morphology	65267	WNK3	OMIM:309610
HP:0012443	Abnormal brain morphology	101060691	NUTM2B-AS1	OMIM:618637
HP:0012443	Abnormal brain morphology	375387	NRROS	OMIM:618875
HP:0012443	Abnormal brain morphology	54982	CLN6	OMIM:204300
HP:0012443	Abnormal brain morphology	5610	EIF2AK2	OMIM:618877
HP:0012443	Abnormal brain morphology	7345	UCHL1	OMIM:615491
HP:0012443	Abnormal brain morphology	5105	PCK1	OMIM:261680
HP:0012443	Abnormal brain morphology	91869	RFT1	ORPHA:244310
HP:0012443	Abnormal brain morphology	91869	RFT1	OMIM:612015
HP:0012443	Abnormal brain morphology	6573	SLC19A1	OMIM:620603
HP:0012443	Abnormal brain morphology	1716	DGUOK	OMIM:251880
HP:0012443	Abnormal brain morphology	5833	PCYT2	OMIM:618770
HP:0012443	Abnormal brain morphology	9895	TECPR2	OMIM:615031
HP:0012443	Abnormal brain morphology	9895	TECPR2	ORPHA:320385
HP:0012443	Abnormal brain morphology	54902	TTC19	OMIM:615157
HP:0012443	Abnormal brain morphology	92609	TIMM50	OMIM:617698
HP:0012443	Abnormal brain morphology	92609	TIMM50	ORPHA:505216
HP:0012443	Abnormal brain morphology	51692	CPSF3	OMIM:619876
HP:0012443	Abnormal brain morphology	56052	ALG1	ORPHA:79327
HP:0012443	Abnormal brain morphology	56052	ALG1	OMIM:608540
HP:0012443	Abnormal brain morphology	54828	BCAS3	OMIM:619641
HP:0012443	Abnormal brain morphology	253959	RALGAPA1	OMIM:618797
HP:0012443	Abnormal brain morphology	4076	CAPRIN1	OMIM:620636
HP:0012443	Abnormal brain morphology	6621	SNAPC4	OMIM:620515
HP:0012443	Abnormal brain morphology	10531	PITRM1	OMIM:619405
HP:0012443	Abnormal brain morphology	256471	MFSD8	OMIM:610951
HP:0012443	Abnormal brain morphology	23162	MAPK8IP3	OMIM:618443
HP:0012443	Abnormal brain morphology	5917	RARS1	OMIM:616140
HP:0012443	Abnormal brain morphology	259232	NALCN	OMIM:616266
HP:0012443	Abnormal brain morphology	339855	KY	ORPHA:496689
HP:0012443	Abnormal brain morphology	3785	KCNQ2	ORPHA:439218
HP:0012443	Abnormal brain morphology	3785	KCNQ2	ORPHA:293181
HP:0012443	Abnormal brain morphology	29960	MRM2	OMIM:618567
HP:0012443	Abnormal brain morphology	2055	CLN8	ORPHA:1947
HP:0012443	Abnormal brain morphology	2055	CLN8	OMIM:600143
HP:0012443	Abnormal brain morphology	2055	CLN8	OMIM:610003
HP:0012443	Abnormal brain morphology	26100	WIPI2	OMIM:618453
HP:0012443	Abnormal brain morphology	10533	ATG7	OMIM:619422
HP:0012443	Abnormal brain morphology	7040	TGFB1	OMIM:618213
HP:0012443	Abnormal brain morphology	81570	CLPB	OMIM:616271
HP:0012443	Abnormal brain morphology	81570	CLPB	ORPHA:445038
HP:0012443	Abnormal brain morphology	51117	COQ4	OMIM:616276
HP:0012443	Abnormal brain morphology	51693	TRAPPC2L	OMIM:618331
HP:0012443	Abnormal brain morphology	84188	FAR1	OMIM:616154
HP:0012443	Abnormal brain morphology	27133	KCNH5	OMIM:620537
HP:0012443	Abnormal brain morphology	58497	PRUNE1	ORPHA:544469
HP:0012443	Abnormal brain morphology	23516	SLC39A14	OMIM:617013
HP:0012443	Abnormal brain morphology	23516	SLC39A14	ORPHA:521406
HP:0012443	Abnormal brain morphology	8506	CNTNAP1	OMIM:616286
HP:0012443	Abnormal brain morphology	7084	TK2	ORPHA:254886
HP:0012443	Abnormal brain morphology	7084	TK2	OMIM:609560
HP:0012443	Abnormal brain morphology	5428	POLG	ORPHA:254886
HP:0012443	Abnormal brain morphology	5428	POLG	OMIM:203700
HP:0012443	Abnormal brain morphology	4695	NDUFA2	OMIM:618235
HP:0012443	Abnormal brain morphology	112939	NACC1	ORPHA:500545
HP:0012443	Abnormal brain morphology	112939	NACC1	OMIM:617393
HP:0012443	Abnormal brain morphology	154881	KCTD7	OMIM:611726
HP:0012443	Abnormal brain morphology	154881	KCTD7	ORPHA:263516
HP:0012443	Abnormal brain morphology	5934	RBL2	OMIM:619690
HP:0012443	Abnormal brain morphology	79709	COLGALT1	OMIM:618360
HP:0012443	Abnormal brain morphology	4704	NDUFA9	OMIM:618247
HP:0012443	Abnormal brain morphology	6601	SMARCC2	OMIM:618362
HP:0012443	Abnormal brain morphology	7965	AIMP2	OMIM:618006
HP:0012443	Abnormal brain morphology	549	AUH	OMIM:250950
HP:0012443	Abnormal brain morphology	6821	SUOX	OMIM:272300
HP:0012443	Abnormal brain morphology	127833	SYT2	OMIM:619461
HP:0012443	Abnormal brain morphology	8802	SUCLG1	ORPHA:17
HP:0012443	Abnormal brain morphology	8802	SUCLG1	OMIM:245400
HP:0012443	Abnormal brain morphology	4714	NDUFB8	OMIM:618252
HP:0012443	Abnormal brain morphology	1822	ATN1	OMIM:618494
HP:0012443	Abnormal brain morphology	4761	NEUROD2	OMIM:618374
HP:0012443	Abnormal brain morphology	84896	ATAD1	OMIM:618011
HP:0012443	Abnormal brain morphology	4548	MTR	OMIM:250940
HP:0012443	Abnormal brain morphology	3028	HSD17B10	ORPHA:391428
HP:0012443	Abnormal brain morphology	8943	AP3D1	OMIM:617050
HP:0012443	Abnormal brain morphology	3975	LHX1	ORPHA:261265
HP:0012443	Abnormal brain morphology	6928	HNF1B	ORPHA:261265
HP:0012443	Abnormal brain morphology	57003	CCDC47	OMIM:618268
HP:0012443	Abnormal brain morphology	2571	GAD1	OMIM:619124
HP:0012443	Abnormal brain morphology	90522	YIF1B	OMIM:619125
HP:0012443	Abnormal brain morphology	2760	GM2A	ORPHA:309246
HP:0012443	Abnormal brain morphology	2760	GM2A	OMIM:272750
HP:0012443	Abnormal brain morphology	440138	ALG11	ORPHA:280071
HP:0012443	Abnormal brain morphology	51715	RAB23	OMIM:201000
HP:0012443	Abnormal brain morphology	1200	TPP1	OMIM:204500
HP:0012443	Abnormal brain morphology	57704	GBA2	ORPHA:320391
HP:0012443	Abnormal brain morphology	57704	GBA2	OMIM:614409
HP:0012443	Abnormal brain morphology	57704	GBA2	ORPHA:352641
HP:0012443	Abnormal brain morphology	6663	SOX10	OMIM:609136
HP:0012443	Abnormal brain morphology	10084	PQBP1	OMIM:309500
HP:0012443	Abnormal brain morphology	2733	GLE1	OMIM:611890
HP:0012443	Abnormal brain morphology	9487	PIGL	OMIM:280000
HP:0012443	Abnormal brain morphology	1719	DHFR	OMIM:613839
HP:0012443	Abnormal brain morphology	54936	ADPRS	OMIM:618170
HP:0012443	Abnormal brain morphology	158	ADSL	OMIM:103050
HP:0012443	Abnormal brain morphology	199857	ALG14	OMIM:619036
HP:0012443	Abnormal brain morphology	51102	MECR	ORPHA:508093
HP:0012443	Abnormal brain morphology	347734	SLC35B2	OMIM:620269
HP:0012443	Abnormal brain morphology	57468	SLC12A5	ORPHA:293181
HP:0012443	Abnormal brain morphology	57468	SLC12A5	OMIM:616645
HP:0012443	Abnormal brain morphology	23236	PLCB1	ORPHA:293181
HP:0012443	Abnormal brain morphology	80222	TARS2	OMIM:615918
HP:0012443	Abnormal brain morphology	162	AP1B1	OMIM:242150
HP:0012443	Abnormal brain morphology	9442	MED27	OMIM:619286
HP:0012443	Abnormal brain morphology	54476	RNF216	OMIM:212840
HP:0012443	Abnormal brain morphology	26580	BSCL2	OMIM:615924
HP:0012443	Abnormal brain morphology	26580	BSCL2	ORPHA:363400
HP:0012443	Abnormal brain morphology	64207	IRF2BPL	OMIM:618088
HP:0012443	Abnormal brain morphology	55037	PTCD3	OMIM:619057
HP:0012443	Abnormal brain morphology	1509	CTSD	OMIM:610127
HP:0012443	Abnormal brain morphology	7841	MOGS	OMIM:606056
HP:0012443	Abnormal brain morphology	8772	FADD	OMIM:613759
HP:0012443	Abnormal brain morphology	8772	FADD	ORPHA:306550
HP:0012443	Abnormal brain morphology	54675	CRLS1	OMIM:620167
HP:0012443	Abnormal brain morphology	5095	PCCA	OMIM:606054
HP:0012443	Abnormal brain morphology	5096	PCCB	OMIM:606054
HP:0012443	Abnormal brain morphology	57531	HACE1	ORPHA:464282
HP:0012443	Abnormal brain morphology	57531	HACE1	OMIM:616756
HP:0012443	Abnormal brain morphology	7466	WFS1	OMIM:222300
HP:0012443	Abnormal brain morphology	1327	COX4I1	OMIM:619060
HP:0012443	Abnormal brain morphology	4598	MVK	OMIM:610377
HP:0012443	Abnormal brain morphology	5826	ABCD4	OMIM:614857
HP:0012443	Abnormal brain morphology	10056	FARSB	OMIM:613658
HP:0012443	Abnormal brain morphology	55343	SLC35C1	ORPHA:99843
HP:0012443	Abnormal brain morphology	26047	CNTNAP2	OMIM:610042
HP:0012443	Abnormal brain morphology	6314	ATXN7	ORPHA:94147
HP:0012443	Abnormal brain morphology	57017	COQ9	OMIM:614654
HP:0012443	Abnormal brain morphology	7167	TPI1	OMIM:615512
HP:0012443	Abnormal brain morphology	132	ADK	OMIM:614300
HP:0012443	Abnormal brain morphology	53616	ADAM22	OMIM:617933
HP:0012443	Abnormal brain morphology	2258	FGF13	OMIM:301058
HP:0012443	Abnormal brain morphology	1806	DPYD	OMIM:274270
HP:0012443	Abnormal brain morphology	1806	DPYD	ORPHA:1675
HP:0012443	Abnormal brain morphology	54822	TRPM7	OMIM:105500
HP:0012443	Abnormal brain morphology	2891	GRIA2	OMIM:618917
HP:0012443	Abnormal brain morphology	23732	FRRS1L	OMIM:616981
HP:0012443	Abnormal brain morphology	2058	EPRS1	OMIM:617951
HP:0012443	Abnormal brain morphology	2917	GRM7	OMIM:618922
HP:0012443	Abnormal brain morphology	5422	POLA1	OMIM:301030
HP:0012443	Abnormal brain morphology	175	AGA	OMIM:208400
HP:0012443	Abnormal brain morphology	11019	LIAS	OMIM:614462
HP:0012443	Abnormal brain morphology	6812	STXBP1	OMIM:612164
HP:0012443	Abnormal brain morphology	2517	FUCA1	OMIM:230000
HP:0012443	Abnormal brain morphology	203228	C9orf72	OMIM:105550
HP:0012443	Abnormal brain morphology	617	BCS1L	OMIM:124000
HP:0012443	Abnormal brain morphology	95	ACY1	OMIM:609924
HP:0012443	Abnormal brain morphology	54802	TRIT1	OMIM:617873
HP:0012443	Abnormal brain morphology	9197	SLC33A1	OMIM:614482
HP:0012443	Abnormal brain morphology	5538	PPT1	OMIM:256730
HP:0012443	Abnormal brain morphology	2806	GOT2	OMIM:618721
HP:0012443	Abnormal brain morphology	3778	KCNMA1	OMIM:618729
HP:0012443	Abnormal brain morphology	55331	ACER3	OMIM:617762
HP:0012443	Abnormal brain morphology	22978	NT5C2	OMIM:613162
HP:0012443	Abnormal brain morphology	85378	TUBGCP6	OMIM:251270
HP:0012443	Abnormal brain morphology	547	KIF1A	OMIM:614255
HP:0012443	Abnormal brain morphology	22868	FASTKD2	OMIM:618855
HP:0012443	Abnormal brain morphology	57338	JPH3	ORPHA:98934
HP:0012443	Abnormal brain morphology	2138	EYA1	OMIM:113650
HP:0012443	Abnormal brain morphology	6495	SIX1	OMIM:113650
HP:0012443	Abnormal brain morphology	10128	LRPPRC	ORPHA:70472
HP:0012443	Abnormal brain morphology	343450	KCNT2	OMIM:617771
HP:0012443	Abnormal brain morphology	6844	VAMP2	OMIM:618760
HP:0012443	Abnormal brain morphology	51098	IFT52	OMIM:617102
HP:0012443	Abnormal brain morphology	4849	CNOT3	OMIM:618672
HP:0012443	Abnormal brain morphology	51062	ATL1	OMIM:182600
HP:0012443	Abnormal brain morphology	10765	KDM5B	OMIM:618109
HP:0012443	Abnormal brain morphology	2671	GFER	ORPHA:330054
HP:0012443	Abnormal brain morphology	11160	ERLIN2	ORPHA:209951
HP:0012443	Abnormal brain morphology	11160	ERLIN2	OMIM:611225
HP:0012443	Abnormal brain morphology	5631	PRPS1	ORPHA:423479
HP:0012443	Abnormal brain morphology	2560	GABRB1	OMIM:617153
HP:0012443	Abnormal brain morphology	285590	SH3PXD2B	OMIM:249420
HP:0012443	Abnormal brain morphology	11020	IFT27	OMIM:615996
HP:0012443	Abnormal brain morphology	51218	GLRX5	OMIM:616859
HP:0012443	Abnormal brain morphology	51663	ZFR	ORPHA:401840
HP:0012443	Abnormal brain morphology	1468	SLC25A10	OMIM:618972
HP:0012443	Abnormal brain morphology	5307	PITX1	OMIM:119800
HP:0012443	Abnormal brain morphology	2137	EXTL3	ORPHA:508533
HP:0012443	Abnormal brain morphology	7528	YY1	ORPHA:506358
HP:0012443	Abnormal brain morphology	4099	MAG	OMIM:616680
HP:0012443	Abnormal brain morphology	1763	DNA2	OMIM:620819
HP:0012443	Abnormal brain morphology	81857	MED25	OMIM:616449
HP:0012443	Abnormal brain morphology	22800	RRAS2	OMIM:618624
HP:0012443	Abnormal brain morphology	3008	H1-4	OMIM:617537
HP:0012443	Abnormal brain morphology	2720	GLB1	OMIM:230600
HP:0012443	Abnormal brain morphology	2720	GLB1	OMIM:230650
HP:0012443	Abnormal brain morphology	1788	DNMT3A	ORPHA:404443
HP:0012443	Abnormal brain morphology	1788	DNMT3A	OMIM:615879
HP:0012443	Abnormal brain morphology	3020	H3-3A	OMIM:619720
HP:0012443	Abnormal brain morphology	10300	KATNB1	OMIM:616212
HP:0012443	Abnormal brain morphology	6536	SLC6A9	OMIM:617301
HP:0012443	Abnormal brain morphology	8722	CTSF	OMIM:615362
HP:0012443	Abnormal brain morphology	55790	CSGALNACT1	OMIM:618870
HP:0012443	Abnormal brain morphology	387787	LIPT2	OMIM:617668
HP:0012443	Abnormal brain morphology	51111	KMT5B	OMIM:617788
HP:0012443	Abnormal brain morphology	4149	MAX	OMIM:620712
HP:0012443	Abnormal brain morphology	84520	GON7	OMIM:619603
HP:0012443	Abnormal brain morphology	51112	TRAPPC12	OMIM:617669
HP:0012443	Abnormal brain morphology	51112	TRAPPC12	ORPHA:500144
HP:0012443	Abnormal brain morphology	55768	NGLY1	ORPHA:404454
HP:0012443	Abnormal brain morphology	100996717	NOTCH2NLC	OMIM:603472
HP:0012443	Abnormal brain morphology	137492	VPS37A	ORPHA:319199
HP:0012443	Abnormal brain morphology	9289	ADGRG1	OMIM:606854
HP:0012443	Abnormal brain morphology	9289	ADGRG1	ORPHA:101070
HP:0012443	Abnormal brain morphology	23250	ATP11A	OMIM:619851
HP:0012443	Abnormal brain morphology	3190	HNRNPK	OMIM:616580
HP:0012443	Abnormal brain morphology	113189	CHST14	ORPHA:2953
HP:0012443	Abnormal brain morphology	113189	CHST14	OMIM:601776
HP:0012443	Abnormal brain morphology	29940	DSE	ORPHA:2953
HP:0012443	Abnormal brain morphology	9213	XPR1	ORPHA:1980
HP:0012443	Abnormal brain morphology	5159	PDGFRB	ORPHA:1980
HP:0012443	Abnormal brain morphology	6575	SLC20A2	ORPHA:1980
HP:0012443	Abnormal brain morphology	58494	JAM2	ORPHA:1980
HP:0012443	Abnormal brain morphology	1183	CLCN4	ORPHA:485350
HP:0012443	Abnormal brain morphology	83480	PUS3	ORPHA:488627
HP:0012443	Abnormal brain morphology	83480	PUS3	OMIM:617051
HP:0012443	Abnormal brain morphology	171023	ASXL1	ORPHA:97297
HP:0012443	Abnormal brain morphology	652	BMP4	OMIM:607932
HP:0012443	Abnormal brain morphology	57498	KIDINS220	OMIM:619501
HP:0012443	Abnormal brain morphology	57498	KIDINS220	ORPHA:521390
HP:0012443	Abnormal brain morphology	5442	POLRMT	OMIM:619743
HP:0012443	Abnormal brain morphology	57178	ZMIZ1	OMIM:618659
HP:0012443	Abnormal brain morphology	3340	NDST1	OMIM:616116
HP:0012443	Abnormal brain morphology	2783	GNB2	OMIM:619503
HP:0012443	Abnormal brain morphology	11193	WBP4	OMIM:620852
HP:0012443	Abnormal brain morphology	55361	PI4K2A	OMIM:620732
HP:0012443	Abnormal brain morphology	26040	SETBP1	OMIM:269150
HP:0012443	Abnormal brain morphology	26040	SETBP1	ORPHA:798
HP:0012443	Abnormal brain morphology	54	ACP5	ORPHA:1855
HP:0012443	Abnormal brain morphology	10717	AP4B1	OMIM:614066
HP:0012443	Abnormal brain morphology	6905	TBCE	OMIM:241410
HP:0012443	Abnormal brain morphology	6905	TBCE	ORPHA:2323
HP:0012443	Abnormal brain morphology	84879	MFSD2A	OMIM:616486
HP:0012443	Abnormal brain morphology	84879	MFSD2A	ORPHA:2512
HP:0012443	Abnormal brain morphology	23126	POGZ	OMIM:616364
HP:0012443	Abnormal brain morphology	57680	CHD8	OMIM:615032
HP:0012443	Abnormal brain morphology	8558	CDK10	OMIM:617694
HP:0012443	Abnormal brain morphology	51633	OTUD6B	OMIM:617452
HP:0012443	Abnormal brain morphology	51633	OTUD6B	ORPHA:505237
HP:0012443	Abnormal brain morphology	5048	PAFAH1B1	ORPHA:217385
HP:0012443	Abnormal brain morphology	5048	PAFAH1B1	ORPHA:95232
HP:0012443	Abnormal brain morphology	5048	PAFAH1B1	OMIM:607432
HP:0012443	Abnormal brain morphology	7531	YWHAE	ORPHA:217385
HP:0012443	Abnormal brain morphology	1660	DHX9	OMIM:620988
HP:0012443	Abnormal brain morphology	131405	TRIM71	OMIM:618667
HP:0012443	Abnormal brain morphology	3098	HK1	OMIM:618547
HP:0012443	Abnormal brain morphology	9091	PIGQ	OMIM:618548
HP:0012443	Abnormal brain morphology	5590	PRKCZ	ORPHA:1606
HP:0012443	Abnormal brain morphology	2563	GABRD	ORPHA:1606
HP:0012443	Abnormal brain morphology	23013	SPEN	ORPHA:1606
HP:0012443	Abnormal brain morphology	8510	MMP23B	ORPHA:1606
HP:0012443	Abnormal brain morphology	7798	LUZP1	ORPHA:1606
HP:0012443	Abnormal brain morphology	10630	PDPN	ORPHA:1606
HP:0012443	Abnormal brain morphology	10277	UBE4B	ORPHA:1606
HP:0012443	Abnormal brain morphology	8514	KCNAB2	ORPHA:1606
HP:0012443	Abnormal brain morphology	473	RERE	ORPHA:1606
HP:0012443	Abnormal brain morphology	473	RERE	ORPHA:494344
HP:0012443	Abnormal brain morphology	473	RERE	OMIM:616975
HP:0012443	Abnormal brain morphology	63976	PRDM16	ORPHA:1606
HP:0012443	Abnormal brain morphology	54897	CASZ1	ORPHA:1606
HP:0012443	Abnormal brain morphology	2203	FBP1	ORPHA:348
HP:0012443	Abnormal brain morphology	5621	PRNP	ORPHA:157941
HP:0012443	Abnormal brain morphology	7358	UGDH	OMIM:618792
HP:0012443	Abnormal brain morphology	476	ATP1A1	OMIM:618314
HP:0012443	Abnormal brain morphology	200424	TET3	OMIM:618798
HP:0012443	Abnormal brain morphology	10297	APC2	OMIM:618677
HP:0012443	Abnormal brain morphology	10297	APC2	ORPHA:821
HP:0012443	Abnormal brain morphology	9562	MINPP1	OMIM:619527
HP:0012443	Abnormal brain morphology	79633	FAT4	ORPHA:314679
HP:0012443	Abnormal brain morphology	8642	DCHS1	ORPHA:314679
HP:0012443	Abnormal brain morphology	57492	ARID1B	ORPHA:251056
HP:0012443	Abnormal brain morphology	6925	TCF4	OMIM:610954
HP:0012443	Abnormal brain morphology	57688	ZSWIM6	OMIM:603671
HP:0012443	Abnormal brain morphology	57688	ZSWIM6	ORPHA:1827
HP:0012443	Abnormal brain morphology	2271	FH	OMIM:606812
HP:0012443	Abnormal brain morphology	4208	MEF2C	ORPHA:228384
HP:0012443	Abnormal brain morphology	4208	MEF2C	OMIM:613443
HP:0012443	Abnormal brain morphology	55739	NAXD	OMIM:618321
HP:0012443	Abnormal brain morphology	4123	MAN2C1	OMIM:619775
HP:0012443	Abnormal brain morphology	85365	ALG2	OMIM:607906
HP:0012443	Abnormal brain morphology	8565	YARS1	OMIM:619418
HP:0012443	Abnormal brain morphology	1107	CHD3	OMIM:618205
HP:0012443	Abnormal brain morphology	23189	KANK1	OMIM:612900
HP:0012443	Abnormal brain morphology	404672	GTF2H5	ORPHA:33364
HP:0012443	Abnormal brain morphology	833	CARS1	ORPHA:33364
HP:0012443	Abnormal brain morphology	7737	RNF113A	ORPHA:33364
HP:0012443	Abnormal brain morphology	136647	MPLKIP	ORPHA:33364
HP:0012443	Abnormal brain morphology	6897	TARS1	ORPHA:33364
HP:0012443	Abnormal brain morphology	2961	GTF2E2	ORPHA:33364
HP:0012443	Abnormal brain morphology	8813	DPM1	ORPHA:79322
HP:0012443	Abnormal brain morphology	9526	MPDU1	ORPHA:79323
HP:0012443	Abnormal brain morphology	9526	MPDU1	OMIM:609180
HP:0012443	Abnormal brain morphology	79087	ALG12	ORPHA:79324
HP:0012443	Abnormal brain morphology	79053	ALG8	ORPHA:79325
HP:0012443	Abnormal brain morphology	25970	SH2B1	ORPHA:261197
HP:0012443	Abnormal brain morphology	8295	TRRAP	OMIM:618454
HP:0012443	Abnormal brain morphology	6576	SLC25A1	OMIM:615182
HP:0012443	Abnormal brain morphology	9742	IFT140	OMIM:266920
HP:0012443	Abnormal brain morphology	29968	PSAT1	OMIM:616038
HP:0012443	Abnormal brain morphology	27429	HTRA2	OMIM:617248
HP:0012443	Abnormal brain morphology	5908	RAP1B	OMIM:620654
HP:0012443	Abnormal brain morphology	9900	SV2A	OMIM:620772
HP:0012443	Abnormal brain morphology	389827	MYMK	OMIM:254940
HP:0012443	Abnormal brain morphology	389827	MYMK	ORPHA:1358
HP:0012443	Abnormal brain morphology	8803	SUCLA2	ORPHA:1933
HP:0012443	Abnormal brain morphology	22827	PUF60	ORPHA:508498
HP:0012443	Abnormal brain morphology	9488	PIGB	OMIM:618580
HP:0012443	Abnormal brain morphology	8925	HERC1	OMIM:617011
HP:0012443	Abnormal brain morphology	8925	HERC1	ORPHA:457359
HP:0012443	Abnormal brain morphology	4728	NDUFS8	OMIM:618222
HP:0012443	Abnormal brain morphology	2775	GNAO1	OMIM:617493
HP:0012443	Abnormal brain morphology	9759	HDAC4	OMIM:619797
HP:0012443	Abnormal brain morphology	30000	TNPO2	OMIM:619556
HP:0012443	Abnormal brain morphology	54892	NCAPG2	OMIM:618460
HP:0012443	Abnormal brain morphology	160418	TMTC3	OMIM:617255
HP:0012443	Abnormal brain morphology	1317	SLC31A1	OMIM:620306
HP:0012443	Abnormal brain morphology	92335	STRADA	ORPHA:500533
HP:0012443	Abnormal brain morphology	92335	STRADA	OMIM:611087
HP:0012443	Abnormal brain morphology	79813	EHMT1	ORPHA:96147
HP:0012443	Abnormal brain morphology	79813	EHMT1	ORPHA:261652
HP:0012443	Abnormal brain morphology	10102	TSFM	OMIM:610505
HP:0012443	Abnormal brain morphology	170302	ARX	OMIM:308350
HP:0012443	Abnormal brain morphology	170302	ARX	ORPHA:452
HP:0012443	Abnormal brain morphology	170302	ARX	OMIM:300215
HP:0012443	Abnormal brain morphology	100033413	SNORD116-1	OMIM:176270
HP:0012443	Abnormal brain morphology	8924	HERC2	OMIM:176270
HP:0012443	Abnormal brain morphology	23742	NPAP1	OMIM:176270
HP:0012443	Abnormal brain morphology	338433	SNORD115-1	OMIM:176270
HP:0012443	Abnormal brain morphology	54551	MAGEL2	OMIM:176270
HP:0012443	Abnormal brain morphology	54551	MAGEL2	ORPHA:398069
HP:0012443	Abnormal brain morphology	54551	MAGEL2	ORPHA:98754
HP:0012443	Abnormal brain morphology	54551	MAGEL2	ORPHA:177904
HP:0012443	Abnormal brain morphology	54551	MAGEL2	ORPHA:177901
HP:0012443	Abnormal brain morphology	7681	MKRN3	OMIM:176270
HP:0012443	Abnormal brain morphology	145624	PWAR1	OMIM:176270
HP:0012443	Abnormal brain morphology	3653	IPW	OMIM:176270
HP:0012443	Abnormal brain morphology	791114	PWRN1	OMIM:176270
HP:0012443	Abnormal brain morphology	7707	ZNF148	OMIM:617260
HP:0012443	Abnormal brain morphology	55869	HDAC8	OMIM:300882
HP:0012443	Abnormal brain morphology	55869	HDAC8	ORPHA:199
HP:0012443	Abnormal brain morphology	5515	PPP2CA	OMIM:618354
HP:0012443	Abnormal brain morphology	26275	HIBCH	ORPHA:88639
HP:0012443	Abnormal brain morphology	650	BMP2	ORPHA:261295
HP:0012443	Abnormal brain morphology	23102	TBC1D2B	OMIM:619323
HP:0012443	Abnormal brain morphology	57520	HECW2	OMIM:617268
HP:0012443	Abnormal brain morphology	51601	LIPT1	OMIM:616299
HP:0012443	Abnormal brain morphology	6492	SIM1	ORPHA:398079
HP:0012443	Abnormal brain morphology	8320	EOMES	ORPHA:171703
HP:0012443	Abnormal brain morphology	1654	DDX3X	ORPHA:457260
HP:0012443	Abnormal brain morphology	1654	DDX3X	OMIM:300958
HP:0012443	Abnormal brain morphology	1654	DDX3X	ORPHA:3338
HP:0012443	Abnormal brain morphology	23729	SHPK	ORPHA:440713
HP:0012443	Abnormal brain morphology	8890	EIF2B4	OMIM:620314
HP:0012443	Abnormal brain morphology	26128	KIFBP	ORPHA:66629
HP:0012443	Abnormal brain morphology	4952	OCRL	ORPHA:534
HP:0012443	Abnormal brain morphology	4952	OCRL	OMIM:309000
HP:0012443	Abnormal brain morphology	9179	AP4M1	OMIM:612936
HP:0012443	Abnormal brain morphology	3417	IDH1	ORPHA:99646
HP:0012443	Abnormal brain morphology	23221	RHOBTB2	OMIM:618004
HP:0012443	Abnormal brain morphology	55572	FOXRED1	OMIM:618241
HP:0012443	Abnormal brain morphology	8260	NAA10	OMIM:300855
HP:0012443	Abnormal brain morphology	8260	NAA10	ORPHA:276432
HP:0012443	Abnormal brain morphology	11274	USP18	OMIM:617397
HP:0012443	Abnormal brain morphology	1108	CHD4	OMIM:617159
HP:0012443	Abnormal brain morphology	51608	GET4	OMIM:620200
HP:0012443	Abnormal brain morphology	2898	GRIK2	OMIM:619580
HP:0012443	Abnormal brain morphology	191	AHCY	ORPHA:88618
HP:0012443	Abnormal brain morphology	1760	DMPK	ORPHA:589821
HP:0012443	Abnormal brain morphology	633	BGN	OMIM:300989
HP:0012443	Abnormal brain morphology	51300	TIMMDC1	OMIM:618251
HP:0012443	Abnormal brain morphology	5277	PIGA	OMIM:300868
HP:0012443	Abnormal brain morphology	4700	NDUFA6	OMIM:618253
HP:0012443	Abnormal brain morphology	2475	MTOR	ORPHA:457485
HP:0012443	Abnormal brain morphology	2475	MTOR	ORPHA:99802
HP:0012443	Abnormal brain morphology	2475	MTOR	OMIM:616638
HP:0012443	Abnormal brain morphology	8635	RNASET2	OMIM:612951
HP:0012443	Abnormal brain morphology	6304	SATB1	OMIM:619229
HP:0012443	Abnormal brain morphology	1974	EIF4A2	OMIM:620455
HP:0012443	Abnormal brain morphology	220296	HEPACAM	OMIM:613925
HP:0012443	Abnormal brain morphology	8883	NAE1	OMIM:620210
HP:0012443	Abnormal brain morphology	60386	SLC25A19	ORPHA:99742
HP:0012443	Abnormal brain morphology	79718	TBL1XR1	ORPHA:487825
HP:0012443	Abnormal brain morphology	50801	KCNK4	OMIM:618381
HP:0012443	Abnormal brain morphology	57187	THOC2	OMIM:300957
HP:0012443	Abnormal brain morphology	27107	ZBTB11	OMIM:618383
HP:0012443	Abnormal brain morphology	3839	KPNA3	OMIM:620106
HP:0012443	Abnormal brain morphology	4983	OPHN1	ORPHA:137831
HP:0012443	Abnormal brain morphology	4983	OPHN1	OMIM:300486
HP:0012443	Abnormal brain morphology	80036	TRPM3	OMIM:620224
HP:0012443	Abnormal brain morphology	2131	EXT1	ORPHA:502
HP:0012443	Abnormal brain morphology	7227	TRPS1	ORPHA:502
HP:0012443	Abnormal brain morphology	215	ABCD1	ORPHA:369942
HP:0012443	Abnormal brain morphology	25839	COG4	OMIM:618150
HP:0012443	Abnormal brain morphology	6872	TAF1	OMIM:300966
HP:0012443	Abnormal brain morphology	374879	ZNF699	OMIM:619488
HP:0012443	Abnormal brain morphology	22983	MAST1	OMIM:618273
HP:0012443	Abnormal brain morphology	6472	SHMT2	OMIM:619121
HP:0012443	Abnormal brain morphology	29123	ANKRD11	ORPHA:261250
HP:0012443	Abnormal brain morphology	84340	GFM2	OMIM:618397
HP:0012443	Abnormal brain morphology	9373	PLAA	ORPHA:521426
HP:0012443	Abnormal brain morphology	9373	PLAA	OMIM:617527
HP:0012443	Abnormal brain morphology	5080	PAX6	OMIM:120200
HP:0012443	Abnormal brain morphology	55252	ASXL2	OMIM:617190
HP:0012443	Abnormal brain morphology	6904	TBCD	OMIM:617193
HP:0012443	Abnormal brain morphology	340533	NEXMIF	ORPHA:85277
HP:0012443	Abnormal brain morphology	10479	SLC9A6	ORPHA:85278
HP:0012443	Abnormal brain morphology	4781	NFIB	OMIM:618286
HP:0012443	Abnormal brain morphology	54187	NANS	OMIM:610442
HP:0012443	Abnormal brain morphology	3295	HSD17B4	OMIM:261515
HP:0012443	Abnormal brain morphology	4508	MT-ATP6	ORPHA:644
HP:0012443	Abnormal brain morphology	23299	BICD2	OMIM:618291
HP:0012443	Abnormal brain morphology	57538	ALPK3	OMIM:618052
HP:0012443	Abnormal brain morphology	129285	PPP1R21	OMIM:619383
HP:0012443	Abnormal brain morphology	221692	PHACTR1	OMIM:618298
HP:0012443	Abnormal brain morphology	3708	ITPR1	OMIM:206700
HP:0012443	Abnormal brain morphology	5138	PDE2A	OMIM:619150
HP:0012443	Abnormal brain morphology	11113	CIT	OMIM:617090
HP:0012443	Abnormal brain morphology	11113	CIT	ORPHA:2512
HP:0012443	Abnormal brain morphology	4702	NDUFA8	OMIM:619272
HP:0012443	Abnormal brain morphology	2294	FOXF1	OMIM:265380
HP:0012443	Abnormal brain morphology	8450	CUL4B	OMIM:300354
HP:0012443	Abnormal brain morphology	55503	TRPV6	OMIM:618188
HP:0012443	Abnormal brain morphology	83700	JAM3	OMIM:613730
HP:0012443	Abnormal brain morphology	23556	PIGN	ORPHA:2059
HP:0012443	Abnormal brain morphology	23556	PIGN	ORPHA:280633
HP:0012443	Abnormal brain morphology	54820	NDE1	ORPHA:2177
HP:0012443	Abnormal brain morphology	54820	NDE1	OMIM:605013
HP:0012443	Abnormal brain morphology	4774	NFIA	OMIM:613735
HP:0012443	Abnormal brain morphology	4774	NFIA	ORPHA:401986
HP:0012443	Abnormal brain morphology	10667	FARS2	OMIM:614946
HP:0012443	Abnormal brain morphology	8496	PPFIBP1	OMIM:620024
HP:0012443	Abnormal brain morphology	64324	NSD1	ORPHA:821
HP:0012443	Abnormal brain morphology	64324	NSD1	OMIM:117550
HP:0012443	Abnormal brain morphology	55112	DYNC2I1	ORPHA:93271
HP:0012443	Abnormal brain morphology	57560	IFT80	ORPHA:93271
HP:0012443	Abnormal brain morphology	57539	WDR35	ORPHA:93271
HP:0012443	Abnormal brain morphology	79659	DYNC2H1	ORPHA:93271
HP:0012443	Abnormal brain morphology	89891	DYNC2I2	ORPHA:93271
HP:0012443	Abnormal brain morphology	80232	WDR26	ORPHA:513456
HP:0012443	Abnormal brain morphology	80232	WDR26	OMIM:617616
HP:0012443	Abnormal brain morphology	89910	UBE3B	OMIM:244450
HP:0012443	Abnormal brain morphology	2314	FLII	ORPHA:819
HP:0012443	Abnormal brain morphology	23096	IQSEC2	ORPHA:819
HP:0012443	Abnormal brain morphology	10743	RAI1	ORPHA:819
HP:0012443	Abnormal brain morphology	10743	RAI1	OMIM:182290
HP:0012443	Abnormal brain morphology	10522	DEAF1	ORPHA:819
HP:0012443	Abnormal brain morphology	23431	AP4E1	OMIM:613744
HP:0012443	Abnormal brain morphology	25782	RAB3GAP2	OMIM:212720
HP:0012443	Abnormal brain morphology	271	AMPD2	OMIM:615809
HP:0012443	Abnormal brain morphology	1340	COX6B1	OMIM:619051
HP:0012443	Abnormal brain morphology	6197	RPS6KA3	OMIM:303600
HP:0012443	Abnormal brain morphology	6197	RPS6KA3	ORPHA:192
HP:0012443	Abnormal brain morphology	4001	LMNB1	OMIM:619179
HP:0012443	Abnormal brain morphology	2892	GRIA3	OMIM:300699
HP:0012443	Abnormal brain morphology	3064	HTT	ORPHA:248111
HP:0012443	Abnormal brain morphology	9570	GOSR2	OMIM:620166
HP:0012443	Abnormal brain morphology	84823	LMNB2	OMIM:619180
HP:0012443	Abnormal brain morphology	84823	LMNB2	OMIM:616540
HP:0012443	Abnormal brain morphology	23036	ZNF292	OMIM:619188
HP:0012443	Abnormal brain morphology	4591	TRIM37	OMIM:253250
HP:0012443	Abnormal brain morphology	10352	WARS2	ORPHA:572798
HP:0012443	Abnormal brain morphology	10352	WARS2	OMIM:617710
HP:0012443	Abnormal brain morphology	84342	COG8	ORPHA:95428
HP:0012443	Abnormal brain morphology	84342	COG8	OMIM:611182
HP:0012443	Abnormal brain morphology	11284	PNKP	OMIM:613402
HP:0012443	Abnormal brain morphology	4338	MOCS2	OMIM:252160
HP:0012443	Abnormal brain morphology	25942	SIN3A	OMIM:613406
HP:0012443	Abnormal brain morphology	25942	SIN3A	ORPHA:500166
HP:0012443	Abnormal brain morphology	2615	LRRC32	OMIM:619074
HP:0012443	Abnormal brain morphology	79753	SNIP1	OMIM:614501
HP:0012443	Abnormal brain morphology	84720	PIGO	OMIM:614749
HP:0012443	Abnormal brain morphology	83475	DOHH	OMIM:620066
HP:0012443	Abnormal brain morphology	58508	KMT2C	ORPHA:261652
HP:0012443	Abnormal brain morphology	10436	EMG1	ORPHA:1270
HP:0012443	Abnormal brain morphology	54499	TMCO1	ORPHA:1394
HP:0012443	Abnormal brain morphology	6638	SNRPN	ORPHA:98754
HP:0012443	Abnormal brain morphology	6638	SNRPN	ORPHA:177904
HP:0012443	Abnormal brain morphology	6638	SNRPN	ORPHA:177901
HP:0012443	Abnormal brain morphology	4692	NDN	ORPHA:98754
HP:0012443	Abnormal brain morphology	4692	NDN	ORPHA:177904
HP:0012443	Abnormal brain morphology	4692	NDN	ORPHA:177901
HP:0012443	Abnormal brain morphology	4948	OCA2	ORPHA:98754
HP:0012443	Abnormal brain morphology	4948	OCA2	ORPHA:177904
HP:0012443	Abnormal brain morphology	4948	OCA2	ORPHA:177901
HP:0012443	Abnormal brain morphology	23483	TGDS	ORPHA:1388
HP:0012443	Abnormal brain morphology	55275	VPS53	OMIM:615851
HP:0012443	Abnormal brain morphology	2146	EZH2	OMIM:277590
HP:0012443	Abnormal brain morphology	64116	SLC39A8	ORPHA:468699
HP:0012443	Abnormal brain morphology	51750	RTEL1	ORPHA:3322
HP:0012443	Abnormal brain morphology	65057	ACD	ORPHA:3322
HP:0012443	Abnormal brain morphology	5073	PARN	ORPHA:3322
HP:0012443	Abnormal brain morphology	26277	TINF2	ORPHA:3322
HP:0012443	Abnormal brain morphology	1736	DKC1	ORPHA:3322
HP:0012443	Abnormal brain morphology	9276	COPB2	OMIM:617800
HP:0012443	Abnormal brain morphology	9276	COPB2	ORPHA:2512
HP:0012443	Abnormal brain morphology	22907	DHX30	OMIM:617804
HP:0012443	Abnormal brain morphology	10664	CTCF	OMIM:615502
HP:0012443	Abnormal brain morphology	10664	CTCF	ORPHA:363611
HP:0012443	Abnormal brain morphology	9230	RAB11B	OMIM:617807
HP:0012443	Abnormal brain morphology	90417	KNSTRN	OMIM:613328
HP:0012443	Abnormal brain morphology	90417	KNSTRN	ORPHA:221139
HP:0012443	Abnormal brain morphology	5293	PIK3CD	OMIM:613328
HP:0012443	Abnormal brain morphology	5293	PIK3CD	ORPHA:221139
HP:0012443	Abnormal brain morphology	27152	INTU	OMIM:617926
HP:0012443	Abnormal brain morphology	10075	HUWE1	OMIM:309590
HP:0012443	Abnormal brain morphology	11133	KPTN	OMIM:615637
HP:0012443	Abnormal brain morphology	85358	SHANK3	OMIM:606232
HP:0012443	Abnormal brain morphology	50943	FOXP3	OMIM:304790
HP:0012443	Abnormal brain morphology	55593	OTUD5	OMIM:301056
HP:0012443	Abnormal brain morphology	57465	TBC1D24	OMIM:220500
HP:0012443	Abnormal brain morphology	57526	PCDH19	OMIM:300088
HP:0012443	Abnormal brain morphology	5859	QARS1	OMIM:615760
HP:0012443	Abnormal brain morphology	7280	TUBB2A	OMIM:615763
HP:0012443	Abnormal brain morphology	998	CDC42	OMIM:616737
HP:0012443	Abnormal brain morphology	998	CDC42	ORPHA:487796
HP:0012443	Abnormal brain morphology	10982	MAPRE2	OMIM:616734
HP:0012443	Abnormal brain morphology	101929726	MYMX	ORPHA:1358
HP:0012443	Abnormal brain morphology	23511	NUP188	OMIM:618804
HP:0012443	Abnormal brain morphology	80746	TSEN2	OMIM:612389
HP:0012443	Abnormal brain morphology	80746	TSEN2	ORPHA:2524
HP:0012443	Abnormal brain morphology	10943	MSL3	OMIM:301032
HP:0012443	Abnormal brain morphology	8985	PLOD3	OMIM:612394
HP:0012443	Abnormal brain morphology	55644	OSGEP	OMIM:617729
HP:0012443	Abnormal brain morphology	60	ACTB	OMIM:243310
HP:0012443	Abnormal brain morphology	23476	BRD4	ORPHA:199
HP:0012443	Abnormal brain morphology	9126	SMC3	ORPHA:199
HP:0012443	Abnormal brain morphology	6878	TAF6	ORPHA:199
HP:0012443	Abnormal brain morphology	25836	NIPBL	ORPHA:199
HP:0012443	Abnormal brain morphology	71	ACTG1	OMIM:614583
HP:0012443	Abnormal brain morphology	9150	CTDP1	ORPHA:48431
HP:0012443	Abnormal brain morphology	81689	ISCA1	OMIM:617613
HP:0012443	Abnormal brain morphology	22931	RAB18	OMIM:614222
HP:0012443	Abnormal brain morphology	4337	MOCS1	OMIM:252150
HP:0012443	Abnormal brain morphology	56270	WDR45B	OMIM:617977
HP:0012443	Abnormal brain morphology	8936	WASF1	OMIM:618707
HP:0012443	Abnormal brain morphology	7343	UBTF	ORPHA:500180
HP:0012443	Abnormal brain morphology	5162	PDHB	ORPHA:255138
HP:0012443	Abnormal brain morphology	5297	PI4KA	OMIM:616531
HP:0012443	Abnormal brain morphology	122553	TRAPPC6B	OMIM:617862
HP:0012443	Abnormal brain morphology	10293	TRAIP	OMIM:616777
HP:0012443	Abnormal brain morphology	283989	TSEN54	ORPHA:2524
HP:0012443	Abnormal brain morphology	116461	TSEN15	ORPHA:2524
HP:0012443	Abnormal brain morphology	79042	TSEN34	ORPHA:2524
HP:0012443	Abnormal brain morphology	51091	SEPSECS	ORPHA:2524
HP:0012443	Abnormal brain morphology	202018	TAPT1	OMIM:616897
HP:0012443	Abnormal brain morphology	55704	CCDC88A	OMIM:617507
HP:0012443	Abnormal brain morphology	55164	SHQ1	OMIM:619922
HP:0012443	Abnormal brain morphology	100506658	OCLN	OMIM:251290
HP:0012443	Abnormal brain morphology	113246	C12orf57	OMIM:218340
HP:0012443	Abnormal brain morphology	259266	ASPM	OMIM:608716
HP:0012443	Abnormal brain morphology	259266	ASPM	ORPHA:2512
HP:0012443	Abnormal brain morphology	7137	TNNI3	OMIM:115210
HP:0012443	Abnormal brain morphology	7518	XRCC4	OMIM:616541
HP:0012443	Abnormal brain morphology	440	ASNS	OMIM:615574
HP:0012443	Abnormal brain morphology	200205	IBA57	OMIM:615330
HP:0012443	Abnormal brain morphology	84631	SLITRK2	OMIM:301107
HP:0012443	Abnormal brain morphology	1284	COL4A2	OMIM:614483
HP:0012443	Abnormal brain morphology	5879	RAC1	ORPHA:500159
HP:0012443	Abnormal brain morphology	5430	POLR2A	OMIM:618603
HP:0012443	Abnormal brain morphology	9928	KIF14	ORPHA:2512
HP:0012443	Abnormal brain morphology	22995	CEP152	ORPHA:2512
HP:0012443	Abnormal brain morphology	284403	WDR62	ORPHA:2512
HP:0012443	Abnormal brain morphology	55262	TRAPPC14	ORPHA:2512
HP:0012443	Abnormal brain morphology	163786	SASS6	ORPHA:2512
HP:0012443	Abnormal brain morphology	29920	PYCR2	ORPHA:2512
HP:0012443	Abnormal brain morphology	4176	MCM7	ORPHA:2512
HP:0012443	Abnormal brain morphology	80254	CEP63	ORPHA:2512
HP:0012443	Abnormal brain morphology	29081	METTL5	ORPHA:2512
HP:0012443	Abnormal brain morphology	79023	NUP37	ORPHA:2512
HP:0012443	Abnormal brain morphology	23310	NCAPD3	ORPHA:2512
HP:0012443	Abnormal brain morphology	6301	SARS1	ORPHA:2512
HP:0012443	Abnormal brain morphology	55755	CDK5RAP2	ORPHA:2512
HP:0012443	Abnormal brain morphology	79648	MCPH1	ORPHA:2512
HP:0012443	Abnormal brain morphology	23141	ANKLE2	ORPHA:2512
HP:0012443	Abnormal brain morphology	7109	TRAPPC10	ORPHA:2512
HP:0012443	Abnormal brain morphology	7453	WARS1	ORPHA:2512
HP:0012443	Abnormal brain morphology	1911	PHC1	ORPHA:2512
HP:0012443	Abnormal brain morphology	1062	CENPE	ORPHA:2512
HP:0012443	Abnormal brain morphology	6884	TAF13	ORPHA:2512
HP:0012443	Abnormal brain morphology	9662	CEP135	ORPHA:2512
HP:0012443	Abnormal brain morphology	57082	KNL1	ORPHA:2512
HP:0012443	Abnormal brain morphology	1021	CDK6	ORPHA:2512
HP:0012443	Abnormal brain morphology	23309	SIN3B	ORPHA:500166
HP:0012443	Abnormal brain morphology	1968	EIF2S3	OMIM:300148
HP:0012443	Abnormal brain morphology	51075	TMX2	OMIM:618730
HP:0012443	Abnormal brain morphology	2902	GRIN1	OMIM:614254
HP:0012443	Abnormal brain morphology	92935	MARS2	OMIM:616430
HP:0012443	Abnormal brain morphology	84148	KAT8	OMIM:618974
HP:0012443	Abnormal brain morphology	55753	OGDHL	OMIM:619701
HP:0012443	Abnormal brain morphology	3852	KRT5	ORPHA:79396
HP:0012443	Abnormal brain morphology	3861	KRT14	ORPHA:79396
HP:0012443	Abnormal brain morphology	58499	ZNF462	OMIM:618619
HP:0012443	Abnormal brain morphology	246329	STAC3	OMIM:255995
HP:0012443	Abnormal brain morphology	9990	SLC12A6	OMIM:218000
HP:0012443	Abnormal brain morphology	7360	UGP2	OMIM:618744
HP:0012443	Abnormal brain morphology	5457	POU4F1	ORPHA:314647
HP:0012443	Abnormal brain morphology	23261	CAMTA1	ORPHA:314647
HP:0012443	Abnormal brain morphology	23261	CAMTA1	OMIM:614756
HP:0012443	Abnormal brain morphology	79158	GNPTAB	OMIM:252500
HP:0012443	Abnormal brain morphology	2192	FBLN1	ORPHA:404451
HP:0012443	Abnormal brain morphology	348	APOE	OMIM:607822
HP:0012443	Abnormal brain morphology	5191	PEX7	OMIM:215100
HP:0012443	Abnormal brain morphology	10347	ABCA7	OMIM:608907
HP:0012443	Abnormal brain morphology	10347	ABCA7	ORPHA:1020
HP:0012443	Abnormal brain morphology	4582	MUC1	OMIM:174000
HP:0012443	Abnormal brain morphology	493856	CISD2	ORPHA:3463
HP:0012443	Abnormal brain morphology	7337	UBE3A	OMIM:105830
HP:0012443	Abnormal brain morphology	56098	PCDHGC4	OMIM:619880
HP:0012443	Abnormal brain morphology	5664	PSEN2	ORPHA:1020
HP:0012443	Abnormal brain morphology	10452	TOMM40	ORPHA:1020
HP:0012443	Abnormal brain morphology	6653	SORL1	ORPHA:1020
HP:0012443	Abnormal brain morphology	7507	XPA	ORPHA:910
HP:0012443	Abnormal brain morphology	7508	XPC	ORPHA:910
HP:0012443	Abnormal brain morphology	1643	DDB2	ORPHA:910
HP:0012443	Abnormal brain morphology	54832	VPS13C	OMIM:616840
HP:0012443	Abnormal brain morphology	27249	MMADHC	OMIM:277410
HP:0012443	Abnormal brain morphology	55630	SLC39A4	ORPHA:37
HP:0012443	Abnormal brain morphology	10166	SLC25A15	ORPHA:415
HP:0012443	Abnormal brain morphology	10166	SLC25A15	OMIM:238970
HP:0012443	Abnormal brain morphology	23317	DNAJC13	ORPHA:411602
HP:0012443	Abnormal brain morphology	1981	EIF4G1	ORPHA:411602
HP:0012443	Abnormal brain morphology	55737	VPS35	ORPHA:411602
HP:0012443	Abnormal brain morphology	26058	GIGYF2	ORPHA:411602
HP:0012443	Abnormal brain morphology	9758	FRMPD4	OMIM:300983
HP:0012443	Abnormal brain morphology	10283	CWC27	OMIM:250410
HP:0012443	Abnormal brain morphology	10283	CWC27	ORPHA:166035
HP:0012443	Abnormal brain morphology	60558	GUF1	OMIM:617065
HP:0012443	Abnormal brain morphology	2893	GRIA4	OMIM:617864
HP:0012443	Abnormal brain morphology	3090	HIC1	ORPHA:531
HP:0012443	Abnormal brain morphology	55005	RMND1	OMIM:614922
HP:0012443	Abnormal brain morphology	4858	NOVA2	OMIM:618859
HP:0012443	Abnormal brain morphology	54931	TRMT10C	OMIM:616974
HP:0012443	Abnormal brain morphology	4330	MN1	OMIM:618774
HP:0012443	Abnormal brain morphology	23512	SUZ12	OMIM:618786
HP:0012443	Abnormal brain morphology	2222	FDFT1	OMIM:618156
HP:0012443	Abnormal brain morphology	10319	LAMC3	OMIM:614115
HP:0012443	Abnormal brain morphology	168667	BMPER	OMIM:608022
HP:0012443	Abnormal brain morphology	6628	SNRPB	ORPHA:1393
HP:0012443	Abnormal brain morphology	6628	SNRPB	OMIM:117650
HP:0012443	Abnormal brain morphology	2879	GPX4	OMIM:250220
HP:0012443	Abnormal brain morphology	113612	CYP2U1	OMIM:615030
HP:0012443	Abnormal brain morphology	9636	ISG15	OMIM:616126
HP:0012443	Abnormal brain morphology	2767	GNA11	OMIM:615361
HP:0012443	Abnormal brain morphology	2625	GATA3	OMIM:146255
HP:0012443	Abnormal brain morphology	5698	PSMB9	OMIM:620796
HP:0012443	Abnormal brain morphology	90	ACVR1	OMIM:135100
HP:0012443	Abnormal brain morphology	56984	PSMG2	OMIM:619183
HP:0012443	Abnormal brain morphology	846	CASR	OMIM:601198
HP:0012443	Abnormal brain morphology	5696	PSMB8	OMIM:256040
HP:0012443	Abnormal brain morphology	2548	GAA	OMIM:232300
HP:0012443	Abnormal brain morphology	526	ATP6V1B2	ORPHA:79500
HP:0012443	Abnormal brain morphology	81031	SLC2A10	OMIM:208050
HP:0012443	Abnormal brain morphology	79184	BRCC3	ORPHA:280679
HP:0012443	Abnormal brain morphology	3674	ITGA2B	OMIM:273800
HP:0012443	Abnormal brain morphology	3674	ITGA2B	ORPHA:853
HP:0012443	Abnormal brain morphology	2155	F7	OMIM:227500
HP:0012443	Abnormal brain morphology	2155	F7	ORPHA:327
HP:0012443	Abnormal brain morphology	538	ATP7A	OMIM:309400
HP:0012443	Abnormal brain morphology	538	ATP7A	ORPHA:565
HP:0012443	Abnormal brain morphology	7454	WAS	ORPHA:906
HP:0012443	Abnormal brain morphology	7456	WIPF1	ORPHA:906
HP:0012443	Abnormal brain morphology	5345	SERPINF2	ORPHA:79
HP:0012443	Abnormal brain morphology	5054	SERPINE1	ORPHA:465
HP:0012443	Abnormal brain morphology	249	ALPL	OMIM:241500
HP:0012443	Abnormal brain morphology	3998	LMAN1	ORPHA:35909
HP:0012443	Abnormal brain morphology	90411	MCFD2	ORPHA:35909
HP:0012443	Abnormal brain morphology	2162	F13A1	OMIM:613225
HP:0012443	Abnormal brain morphology	2811	GP1BA	ORPHA:853
HP:0012443	Abnormal brain morphology	3673	ITGA2	ORPHA:853
HP:0012443	Abnormal brain morphology	135228	CD109	ORPHA:853
HP:0012443	Abnormal brain morphology	3690	ITGB3	ORPHA:853
HP:0012443	Abnormal brain morphology	1584	CYP11B1	ORPHA:90795
HP:0012443	Abnormal brain morphology	1584	CYP11B1	ORPHA:403
HP:0012443	Abnormal brain morphology	5373	PMM2	ORPHA:79318
HP:0012443	Abnormal brain morphology	2159	F10	OMIM:227600
HP:0012443	Abnormal brain morphology	889	KRIT1	OMIM:116860
HP:0012443	Abnormal brain morphology	2157	F8	ORPHA:169805
HP:0012443	Abnormal brain morphology	2157	F8	ORPHA:169802
HP:0012443	Abnormal brain morphology	2624	GATA2	ORPHA:228423
HP:0012443	Abnormal brain morphology	1181	CLCN2	ORPHA:404
HP:0012443	Abnormal brain morphology	1585	CYP11B2	ORPHA:403
HP:0012443	Abnormal brain morphology	776	CACNA1D	ORPHA:369929
HP:0012443	Abnormal brain morphology	3762	KCNJ5	ORPHA:251274
HP:0012443	Abnormal brain morphology	34	ACADM	OMIM:201450
HP:0012443	Abnormal brain morphology	593	BCKDHA	OMIM:248600
HP:0012443	Abnormal brain morphology	10165	SLC25A13	ORPHA:247585
HP:0012443	Abnormal brain morphology	10165	SLC25A13	OMIM:603471
HP:0012443	Abnormal brain morphology	54148	MRPL39	OMIM:620646
HP:0012443	Abnormal brain morphology	708	C1QBP	OMIM:617713
HP:0012443	Abnormal brain morphology	112476	PRRT2	ORPHA:569
HP:0012443	Abnormal brain morphology	51163	DBR1	OMIM:620510
HP:0012443	Abnormal brain morphology	10577	NPC2	OMIM:607625
HP:0012443	Abnormal brain morphology	9445	ITM2B	OMIM:117300
HP:0012443	Abnormal brain morphology	4353	MPO	OMIM:104300
HP:0012443	Abnormal brain morphology	5328	PLAU	OMIM:104300
HP:0012443	Abnormal brain morphology	4864	NPC1	OMIM:257220
HP:0012443	Abnormal brain morphology	27031	NPHP3	OMIM:267010
HP:0012443	Abnormal brain morphology	23327	NEDD4L	OMIM:617201
HP:0012443	Abnormal brain morphology	10472	ZBTB18	OMIM:612337
HP:0012443	Abnormal brain morphology	4287	ATXN3	OMIM:109150
HP:0012443	Abnormal brain morphology	4287	ATXN3	ORPHA:276244
HP:0012443	Abnormal brain morphology	4287	ATXN3	ORPHA:276241
HP:0012443	Abnormal brain morphology	4287	ATXN3	ORPHA:276238
HP:0012443	Abnormal brain morphology	203068	TUBB	OMIM:615771
HP:0012443	Abnormal brain morphology	116228	COX20	OMIM:619054
HP:0012443	Abnormal brain morphology	9698	PUM1	OMIM:620719
HP:0012443	Abnormal brain morphology	123606	NIPA1	ORPHA:261183
HP:0012443	Abnormal brain morphology	7283	TUBG1	ORPHA:261183
HP:0012443	Abnormal brain morphology	81614	NIPA2	ORPHA:261183
HP:0012443	Abnormal brain morphology	8573	CASK	OMIM:300749
HP:0012443	Abnormal brain morphology	267010	RNU12	OMIM:620208
HP:0012443	Abnormal brain morphology	4361	MRE11	ORPHA:251347
HP:0012443	Abnormal brain morphology	79645	CLXN	OMIM:620642
HP:0012443	Abnormal brain morphology	23203	PMPCA	OMIM:213200
HP:0012443	Abnormal brain morphology	23203	PMPCA	ORPHA:1170
HP:0012443	Abnormal brain morphology	8550	MAPKAPK5	OMIM:619869
HP:0012443	Abnormal brain morphology	2911	GRM1	OMIM:614831
HP:0012443	Abnormal brain morphology	79971	WLS	OMIM:619648
HP:0012443	Abnormal brain morphology	435	ASL	ORPHA:23
HP:0012443	Abnormal brain morphology	1798	DPAGT1	ORPHA:86309
HP:0012443	Abnormal brain morphology	51604	PIGT	ORPHA:369837
HP:0012443	Abnormal brain morphology	1593	CYP27A1	ORPHA:909
HP:0012443	Abnormal brain morphology	9255	AIMP1	OMIM:260600
HP:0012443	Abnormal brain morphology	85476	GFM1	OMIM:609060
HP:0012443	Abnormal brain morphology	285175	UNC80	OMIM:616801
HP:0012443	Abnormal brain morphology	8021	NUP214	OMIM:618426
HP:0012443	Abnormal brain morphology	11267	SNF8	OMIM:620784
HP:0012443	Abnormal brain morphology	11267	SNF8	OMIM:620783
HP:0012443	Abnormal brain morphology	55775	TDP1	ORPHA:94124
HP:0012443	Abnormal brain morphology	79796	ALG9	OMIM:608776
HP:0012443	Abnormal brain morphology	2521	FUS	ORPHA:275872
HP:0012443	Abnormal brain morphology	8878	SQSTM1	ORPHA:275872
HP:0012443	Abnormal brain morphology	23435	TARDBP	ORPHA:275872
HP:0012443	Abnormal brain morphology	400916	CHCHD10	ORPHA:275872
HP:0012443	Abnormal brain morphology	6335	SCN9A	ORPHA:33069
HP:0012443	Abnormal brain morphology	6326	SCN2A	ORPHA:33069
HP:0012443	Abnormal brain morphology	6326	SCN2A	OMIM:613721
HP:0012443	Abnormal brain morphology	2554	GABRA1	ORPHA:33069
HP:0012443	Abnormal brain morphology	6324	SCN1B	ORPHA:33069
HP:0012443	Abnormal brain morphology	1528	CYB5A	ORPHA:621
HP:0012443	Abnormal brain morphology	1727	CYB5R3	ORPHA:621
HP:0012443	Abnormal brain morphology	23287	AGTPBP1	OMIM:618276
HP:0012443	Abnormal brain morphology	790	CAD	OMIM:616457
HP:0012443	Abnormal brain morphology	2782	GNB1	OMIM:616973
HP:0012443	Abnormal brain morphology	55163	PNPO	ORPHA:79096
HP:0012443	Abnormal brain morphology	79944	L2HGDH	OMIM:236792
HP:0012443	Abnormal brain morphology	8869	ST3GAL5	OMIM:609056
HP:0012443	Abnormal brain morphology	5354	PLP1	OMIM:312080
HP:0012443	Abnormal brain morphology	1540	CYLD	OMIM:619132
HP:0012443	Abnormal brain morphology	1315	COPB1	OMIM:619255
HP:0012443	Abnormal brain morphology	128989	TANGO2	ORPHA:480864
HP:0012443	Abnormal brain morphology	1678	TIMM8A	ORPHA:52368
HP:0012443	Abnormal brain morphology	79587	CARS2	OMIM:616672
HP:0012443	Abnormal brain morphology	7407	VARS1	OMIM:617802
HP:0012443	Abnormal brain morphology	27010	TPK1	OMIM:614458
HP:0012443	Abnormal brain morphology	10695	CNPY3	OMIM:617929
HP:0012443	Abnormal brain morphology	6622	SNCA	OMIM:168601
HP:0012443	Abnormal brain morphology	3590	IL11RA	OMIM:614188
HP:0012443	Abnormal brain morphology	5745	PTH1R	OMIM:600002
HP:0012443	Abnormal brain morphology	6885	MAP3K7	ORPHA:1826
HP:0012443	Abnormal brain morphology	1513	CTSK	ORPHA:763
HP:0012443	Abnormal brain morphology	81788	NUAK2	OMIM:619452
HP:0012443	Abnormal brain morphology	3239	HOXD13	ORPHA:887
HP:0012443	Abnormal brain morphology	55521	TRIM36	OMIM:206500
HP:0012443	Abnormal brain morphology	51339	DACT1	ORPHA:63260
HP:0012443	Abnormal brain morphology	7066	THPO	ORPHA:71493
HP:0012443	Abnormal brain morphology	139886	SPIN4	OMIM:301114
HP:0012443	Abnormal brain morphology	80217	CFAP43	OMIM:236690
HP:0012443	Abnormal brain morphology	6329	SCN4A	OMIM:620351
HP:0012443	Abnormal brain morphology	3155	HMGCL	ORPHA:20
HP:0012443	Abnormal brain morphology	65260	COA7	OMIM:618387
HP:0012443	Abnormal brain morphology	4570	MT-TN	OMIM:220110
HP:0012443	Abnormal brain morphology	6834	SURF1	OMIM:220110
HP:0012443	Abnormal brain morphology	1890	TYMP	OMIM:603041
HP:0012443	Abnormal brain morphology	1890	TYMP	ORPHA:298
HP:0012443	Abnormal brain morphology	22934	RPIA	OMIM:608611
HP:0012443	Abnormal brain morphology	56945	MRPS22	OMIM:611719
HP:0012443	Abnormal brain morphology	1615	DARS1	OMIM:615281
HP:0012443	Abnormal brain morphology	644096	SDHAF1	OMIM:619166
HP:0012443	Abnormal brain morphology	4780	NFE2L2	OMIM:617744
HP:0012443	Abnormal brain morphology	8891	EIF2B3	OMIM:620313
HP:0012443	Abnormal brain morphology	8892	EIF2B2	OMIM:620312
HP:0012443	Abnormal brain morphology	3980	LIG3	ORPHA:298
HP:0012443	Abnormal brain morphology	50484	RRM2B	ORPHA:298
HP:0012443	Abnormal brain morphology	25913	POT1	OMIM:620368
HP:0012443	Abnormal brain morphology	124454	EARS2	OMIM:614924
HP:0012443	Abnormal brain morphology	6389	SDHA	OMIM:252011
HP:0012443	Abnormal brain morphology	1967	EIF2B1	OMIM:603896
HP:0012443	Abnormal brain morphology	54968	TMEM70	OMIM:614052
HP:0012443	Abnormal brain morphology	3735	KARS1	OMIM:619147
HP:0012443	Abnormal brain morphology	80169	CTC1	OMIM:612199
HP:0012443	Abnormal brain morphology	6342	SCP2	OMIM:613724
HP:0012443	Abnormal brain morphology	9997	SCO2	OMIM:604377
HP:0012443	Abnormal brain morphology	347733	TUBB2B	ORPHA:467166
HP:0012443	Abnormal brain morphology	347733	TUBB2B	ORPHA:300573
HP:0012443	Abnormal brain morphology	7846	TUBA1A	ORPHA:467166
HP:0012443	Abnormal brain morphology	10381	TUBB3	ORPHA:467166
HP:0012443	Abnormal brain morphology	10735	STAG2	ORPHA:220386
HP:0012443	Abnormal brain morphology	10735	STAG2	ORPHA:93925
HP:0012443	Abnormal brain morphology	8243	SMC1A	ORPHA:220386
HP:0012443	Abnormal brain morphology	6491	STIL	ORPHA:220386
HP:0012443	Abnormal brain morphology	6491	STIL	ORPHA:93926
HP:0012443	Abnormal brain morphology	6491	STIL	ORPHA:93924
HP:0012443	Abnormal brain morphology	6491	STIL	ORPHA:93925
HP:0012443	Abnormal brain morphology	1859	DYRK1A	ORPHA:464311
HP:0012443	Abnormal brain morphology	8050	PDHX	ORPHA:255182
HP:0012443	Abnormal brain morphology	2332	FMR1	ORPHA:93256
HP:0012443	Abnormal brain morphology	1605	DAG1	ORPHA:370997
HP:0012443	Abnormal brain morphology	22	ABCB7	OMIM:301310
HP:0012443	Abnormal brain morphology	5903	RANBP2	ORPHA:88619
HP:0012443	Abnormal brain morphology	1759	DNM1	ORPHA:2382
HP:0012443	Abnormal brain morphology	2562	GABRB3	ORPHA:2382
HP:0012443	Abnormal brain morphology	5602	MAPK10	ORPHA:2382
HP:0012443	Abnormal brain morphology	773	CACNA1A	ORPHA:2382
HP:0012443	Abnormal brain morphology	6323	SCN1A	ORPHA:2382
HP:0012443	Abnormal brain morphology	23316	CUX2	ORPHA:2382
HP:0012443	Abnormal brain morphology	1106	CHD2	ORPHA:2382
HP:0012443	Abnormal brain morphology	10978	CLP1	ORPHA:411493
HP:0012443	Abnormal brain morphology	284217	LAMA1	ORPHA:370022
HP:0012443	Abnormal brain morphology	4668	NAGA	ORPHA:79279
HP:0012443	Abnormal brain morphology	55901	THSD1	ORPHA:231160
HP:0012443	Abnormal brain morphology	7049	TGFBR3	ORPHA:231160
HP:0012443	Abnormal brain morphology	1281	COL3A1	ORPHA:231160
HP:0012443	Abnormal brain morphology	83854	ANGPTL6	ORPHA:231160
HP:0012443	Abnormal brain morphology	2022	ENG	ORPHA:231160
HP:0012443	Abnormal brain morphology	6310	ATXN1	ORPHA:98755
HP:0012443	Abnormal brain morphology	55627	SMPD4	OMIM:618622
HP:0012443	Abnormal brain morphology	4621	MYH3	OMIM:193700
HP:0012443	Abnormal brain morphology	5119	CHMP1A	OMIM:614961
HP:0012443	Abnormal brain morphology	1778	DYNC1H1	OMIM:614563
HP:0012443	Abnormal brain morphology	7436	VLDLR	OMIM:224050
HP:0012443	Abnormal brain morphology	2019	EN1	OMIM:619218
HP:0012443	Abnormal brain morphology	1781	DYNC1I2	OMIM:618492
HP:0012443	Abnormal brain morphology	23265	EXOC7	OMIM:619072
HP:0012443	Abnormal brain morphology	55165	CEP55	OMIM:236500
HP:0012443	Abnormal brain morphology	9440	MED17	OMIM:613668
HP:0012443	Abnormal brain morphology	84919	PPP1R15B	OMIM:616817
HP:0012443	Abnormal brain morphology	84919	PPP1R15B	ORPHA:391408
HP:0012443	Abnormal brain morphology	93587	TRMT10A	ORPHA:391408
HP:0012443	Abnormal brain morphology	111	ADCY5	OMIM:619651
HP:0012443	Abnormal brain morphology	84081	NSRP1	OMIM:620001
HP:0012443	Abnormal brain morphology	8815	BANF1	OMIM:614008
HP:0012443	Abnormal brain morphology	9939	RBM8A	OMIM:274000
HP:0012443	Abnormal brain morphology	55969	RAB5IF	OMIM:616994
HP:0012443	Abnormal brain morphology	4511	MT-TC	OMIM:540000
HP:0012443	Abnormal brain morphology	4577	MT-TV	OMIM:540000
HP:0012443	Abnormal brain morphology	4566	MT-TK	OMIM:540000
HP:0012443	Abnormal brain morphology	54344	DPM3	ORPHA:263494
HP:0012443	Abnormal brain morphology	6786	STIM1	OMIM:185070
HP:0012443	Abnormal brain morphology	23600	AMACR	ORPHA:79095
HP:0012443	Abnormal brain morphology	129607	CMPK2	OMIM:621018
HP:0012443	Abnormal brain morphology	3569	IL6	OMIM:108010
HP:0012443	Abnormal brain morphology	6599	SMARCC1	OMIM:620241
HP:0012443	Abnormal brain morphology	79693	YRDC	ORPHA:2065
HP:0012443	Abnormal brain morphology	57122	NUP107	ORPHA:2065
HP:0012443	Abnormal brain morphology	10785	WDR4	ORPHA:2065
HP:0012443	Abnormal brain morphology	112858	TP53RK	ORPHA:2065
HP:0012443	Abnormal brain morphology	8270	LAGE3	ORPHA:2065
HP:0012443	Abnormal brain morphology	29980	DONSON	OMIM:251230
HP:0012443	Abnormal brain morphology	10844	TUBGCP2	OMIM:618737
HP:0012443	Abnormal brain morphology	728294	D2HGDH	OMIM:600721
HP:0012443	Abnormal brain morphology	25828	TXN2	OMIM:616811
HP:0012443	Abnormal brain morphology	25828	TXN2	ORPHA:478029
HP:0012443	Abnormal brain morphology	64121	RRAGC	OMIM:620609
HP:0012443	Abnormal brain morphology	5189	PEX1	OMIM:214100
HP:0012443	Abnormal brain morphology	7355	SLC35A2	ORPHA:356961
HP:0012443	Abnormal brain morphology	2972	BRF1	ORPHA:444072
HP:0012443	Abnormal brain morphology	2581	GALC	ORPHA:206448
HP:0012443	Abnormal brain morphology	317662	FAM149B1	OMIM:618763
HP:0012443	Abnormal brain morphology	317662	FAM149B1	ORPHA:2754
HP:0012443	Abnormal brain morphology	10210	TOPORS	ORPHA:2754
HP:0012443	Abnormal brain morphology	55770	EXOC2	OMIM:619306
HP:0012443	Abnormal brain morphology	80347	COASY	ORPHA:397725
HP:0012443	Abnormal brain morphology	27072	VPS41	OMIM:619389
HP:0012443	Abnormal brain morphology	83636	C19orf12	OMIM:614298
HP:0012443	Abnormal brain morphology	318	NUDT2	OMIM:619844
HP:0012443	Abnormal brain morphology	1737	DLAT	ORPHA:79244
HP:0012443	Abnormal brain morphology	55835	CPAP	OMIM:608393
HP:0012443	Abnormal brain morphology	8621	CDK13	OMIM:617360
HP:0012443	Abnormal brain morphology	5551	PRF1	ORPHA:540
HP:0012443	Abnormal brain morphology	8676	STX11	ORPHA:540
HP:0012443	Abnormal brain morphology	201294	UNC13D	ORPHA:540
HP:0012443	Abnormal brain morphology	6813	STXBP2	ORPHA:540
HP:0012443	Abnormal brain morphology	55904	KMT2E	OMIM:618512
HP:0012443	Abnormal brain morphology	55858	TMEM165	OMIM:614727
HP:0012443	Abnormal brain morphology	2632	GBE1	OMIM:263570
HP:0012443	Abnormal brain morphology	8789	FBP2	OMIM:619864
HP:0012443	Abnormal brain morphology	57459	GATAD2B	ORPHA:363686
HP:0012443	Abnormal brain morphology	6182	MRPL12	OMIM:618951
HP:0012443	Abnormal brain morphology	51	ACOX1	OMIM:618960
HP:0012443	Abnormal brain morphology	57731	SPTBN4	OMIM:617519
HP:0012443	Abnormal brain morphology	410	ARSA	OMIM:250100
HP:0012443	Abnormal brain morphology	64601	VPS16	OMIM:619291
HP:0012443	Abnormal brain morphology	7384	UQCRC1	OMIM:619279
HP:0012443	Abnormal brain morphology	686	BTD	OMIM:253260
HP:0012443	Abnormal brain morphology	2903	GRIN2A	ORPHA:289266
HP:0012443	Abnormal brain morphology	5575	PRKAR1B	ORPHA:412066
HP:0012443	Abnormal brain morphology	51473	DCDC2	ORPHA:84081
HP:0012443	Abnormal brain morphology	7074	TIAM1	OMIM:619908
HP:0012443	Abnormal brain morphology	22872	SEC31A	OMIM:618651
HP:0012443	Abnormal brain morphology	27145	FILIP1	OMIM:620775
HP:0012443	Abnormal brain morphology	22943	DKK1	ORPHA:268882
HP:0012443	Abnormal brain morphology	6309	SC5D	ORPHA:46059
HP:0012443	Abnormal brain morphology	113235	SLC46A1	ORPHA:90045
HP:0012443	Abnormal brain morphology	5053	PAH	OMIM:261600
HP:0012443	Abnormal brain morphology	5053	PAH	ORPHA:79254
HP:0012443	Abnormal brain morphology	55651	NHP2	OMIM:613987
HP:0012443	Abnormal brain morphology	55651	NHP2	ORPHA:1775
HP:0012443	Abnormal brain morphology	8671	SLC4A4	OMIM:604278
HP:0012443	Abnormal brain morphology	3394	IRF8	OMIM:226990
HP:0012443	Abnormal brain morphology	2067	ERCC1	ORPHA:1466
HP:0012443	Abnormal brain morphology	6773	STAT2	OMIM:618886
HP:0012443	Abnormal brain morphology	3117	HLA-DQA1	OMIM:212750
HP:0012443	Abnormal brain morphology	2697	GJA1	ORPHA:2710
HP:0012443	Abnormal brain morphology	1301	COL11A1	ORPHA:560
HP:0012443	Abnormal brain morphology	1280	COL2A1	ORPHA:85198
HP:0012443	Abnormal brain morphology	760	CA2	ORPHA:2785
HP:0012443	Abnormal brain morphology	760	CA2	OMIM:259730
HP:0012443	Abnormal brain morphology	5190	PEX6	ORPHA:3220
HP:0012443	Abnormal brain morphology	1836	SLC26A2	ORPHA:628
HP:0012443	Abnormal brain morphology	57169	ZNFX1	OMIM:619644
HP:0012443	Abnormal brain morphology	1893	ECM1	ORPHA:530
HP:0012443	Abnormal brain morphology	4256	MGP	OMIM:245150
HP:0012443	Abnormal brain morphology	9365	KL	OMIM:617994
HP:0012443	Abnormal brain morphology	5741	PTH	OMIM:146200
HP:0012443	Abnormal brain morphology	5860	QDPR	OMIM:261630
HP:0012443	Abnormal brain morphology	56160	NSMCE3	OMIM:617241
HP:0012443	Abnormal brain morphology	79650	USB1	ORPHA:1775
HP:0012443	Abnormal brain morphology	55135	WRAP53	ORPHA:1775
HP:0012443	Abnormal brain morphology	4869	NPM1	ORPHA:1775
HP:0012443	Abnormal brain morphology	7012	TERC	ORPHA:1775
HP:0012443	Abnormal brain morphology	55505	NOP10	ORPHA:1775
HP:0012443	Abnormal brain morphology	7298	TYMS	ORPHA:1775
HP:0012443	Abnormal brain morphology	1188	CLCNKB	ORPHA:358
HP:0012443	Abnormal brain morphology	6559	SLC12A3	ORPHA:358
HP:0012443	Abnormal brain morphology	51501	HIKESHI	OMIM:616881
HP:0012443	Abnormal brain morphology	8818	DPM2	ORPHA:329178
HP:0012443	Abnormal brain morphology	79783	SUGCT	ORPHA:35706
HP:0012443	Abnormal brain morphology	122961	ISCA2	OMIM:616370
HP:0012443	Abnormal brain morphology	4010	LMX1B	ORPHA:495818
HP:0012443	Abnormal brain morphology	6748	SSR4	ORPHA:370927
HP:0012443	Abnormal brain morphology	7317	UBA1	ORPHA:1145
HP:0012443	Abnormal brain morphology	51008	ASCC1	OMIM:616867
HP:0012443	Abnormal brain morphology	50814	NSDHL	ORPHA:251383
HP:0012443	Abnormal brain morphology	3796	KIF2A	OMIM:615411
HP:0012443	Abnormal brain morphology	6558	SLC12A2	OMIM:619083
HP:0012443	Abnormal brain morphology	3800	KIF5C	OMIM:615282
HP:0012443	Abnormal brain morphology	4072	EPCAM	ORPHA:144
HP:0012443	Abnormal brain morphology	4292	MLH1	ORPHA:144
HP:0012443	Abnormal brain morphology	5395	PMS2	ORPHA:144
HP:0012443	Abnormal brain morphology	2956	MSH6	ORPHA:144
HP:0012443	Abnormal brain morphology	5378	PMS1	ORPHA:144
HP:0012443	Abnormal brain morphology	4436	MSH2	ORPHA:144
HP:0012443	Abnormal brain morphology	64218	SEMA4A	ORPHA:440437
HP:0012443	Abnormal brain morphology	472	ATM	ORPHA:440437
HP:0012443	Abnormal brain morphology	657	BMPR1A	ORPHA:440437
HP:0012443	Abnormal brain morphology	6224	RPS20	ORPHA:440437
HP:0012443	Abnormal brain morphology	4595	MUTYH	ORPHA:440437
HP:0012443	Abnormal brain morphology	79798	ARMC5	ORPHA:189427
HP:0012443	Abnormal brain morphology	3418	IDH2	ORPHA:163634
HP:0012443	Abnormal brain morphology	57194	ATP10A	ORPHA:411515
HP:0012443	Abnormal brain morphology	1289	COL5A1	OMIM:619329
HP:0012443	Abnormal brain morphology	51726	DNAJB11	ORPHA:730
HP:0012443	Abnormal brain morphology	23193	GANAB	ORPHA:730
HP:0012443	Abnormal brain morphology	23193	GANAB	OMIM:600666
HP:0012443	Abnormal brain morphology	5310	PKD1	ORPHA:730
HP:0012443	Abnormal brain morphology	5311	PKD2	ORPHA:730
HP:0012443	Abnormal brain morphology	29880	ALG5	ORPHA:730
HP:0012443	Abnormal brain morphology	80114	BICC1	ORPHA:730
HP:0012443	Abnormal brain morphology	6772	STAT1	ORPHA:391487
HP:0012443	Abnormal brain morphology	5589	PRKCSH	OMIM:174050
HP:0012443	Abnormal brain morphology	5589	PRKCSH	ORPHA:2924
HP:0012443	Abnormal brain morphology	4796	TONSL	ORPHA:93357
HP:0012443	Abnormal brain morphology	1277	COL1A1	ORPHA:287
HP:0012443	Abnormal brain morphology	1290	COL5A2	ORPHA:287
HP:0012443	Abnormal brain morphology	11231	SEC63	ORPHA:2924
HP:0012443	Abnormal brain morphology	4041	LRP5	ORPHA:2924
HP:0012443	Abnormal brain morphology	335	APOA1	OMIM:620657
HP:0012443	Abnormal brain morphology	81704	DOCK8	OMIM:243700
HP:0012443	Abnormal brain morphology	10621	POLR3F	OMIM:619872
HP:0012443	Abnormal brain morphology	4921	DDR2	OMIM:271665
HP:0012443	Abnormal brain morphology	6571	SLC18A2	ORPHA:352649
HP:0012443	Abnormal brain morphology	22854	NTNG1	ORPHA:3095
HP:0012443	Abnormal brain morphology	54543	TOMM7	OMIM:620601
HP:0012443	Abnormal brain morphology	22845	DOLK	OMIM:610768
HP:0012443	Abnormal brain morphology	8604	SLC25A12	OMIM:612949
HP:0012443	Abnormal brain morphology	10087	CERT1	OMIM:616351
HP:0012443	Abnormal brain morphology	10236	HNRNPR	OMIM:620073
HP:0012443	Abnormal brain morphology	10079	ATP9A	OMIM:620242
HP:0012443	Abnormal brain morphology	205327	C2orf69	OMIM:619423
HP:0012443	Abnormal brain morphology	3329	HSPD1	OMIM:612233
HP:0012443	Abnormal brain morphology	3769	KCNJ13	ORPHA:65
HP:0012443	Abnormal brain morphology	343035	RD3	ORPHA:65
HP:0012443	Abnormal brain morphology	145226	RDH12	ORPHA:65
HP:0012443	Abnormal brain morphology	1406	CRX	ORPHA:65
HP:0012443	Abnormal brain morphology	10383	TUBB4B	ORPHA:65
HP:0012443	Abnormal brain morphology	85015	USP45	ORPHA:65
HP:0012443	Abnormal brain morphology	6121	RPE65	ORPHA:65
HP:0012443	Abnormal brain morphology	23418	CRB1	ORPHA:65
HP:0012443	Abnormal brain morphology	5130	PCYT1A	ORPHA:65
HP:0012443	Abnormal brain morphology	9657	IQCB1	ORPHA:65
HP:0012443	Abnormal brain morphology	392255	GDF6	ORPHA:65
HP:0012443	Abnormal brain morphology	23746	AIPL1	ORPHA:65
HP:0012443	Abnormal brain morphology	3000	GUCY2D	ORPHA:65
HP:0012443	Abnormal brain morphology	9227	LRAT	ORPHA:65
HP:0012443	Abnormal brain morphology	55812	SPATA7	ORPHA:65
HP:0012443	Abnormal brain morphology	7287	TULP1	ORPHA:65
HP:0012443	Abnormal brain morphology	167691	LCA5	ORPHA:65
HP:0012443	Abnormal brain morphology	3614	IMPDH1	ORPHA:65
HP:0012443	Abnormal brain morphology	375	ARF1	OMIM:618185
HP:0012443	Abnormal brain morphology	4311	MME	OMIM:617018
HP:0012443	Abnormal brain morphology	4311	MME	ORPHA:497764
HP:0012443	Abnormal brain morphology	9254	CACNA2D2	OMIM:618501
HP:0012443	Abnormal brain morphology	1742	DLG4	OMIM:618793
HP:0012443	Abnormal brain morphology	11261	CHP1	OMIM:618438
HP:0012443	Abnormal brain morphology	57410	SCYL1	ORPHA:466794
HP:0012443	Abnormal brain morphology	57410	SCYL1	OMIM:616719
HP:0012443	Abnormal brain morphology	84314	TMEM107	ORPHA:564
HP:0012443	Abnormal brain morphology	26123	TCTN3	ORPHA:564
HP:0012443	Abnormal brain morphology	79867	TCTN2	ORPHA:564
HP:0012443	Abnormal brain morphology	80776	B9D2	ORPHA:564
HP:0012443	Abnormal brain morphology	79600	TCTN1	ORPHA:564
HP:0012443	Abnormal brain morphology	57096	RPGRIP1	ORPHA:564
HP:0012443	Abnormal brain morphology	79848	CSPP1	ORPHA:564
HP:0012443	Abnormal brain morphology	80184	CEP290	ORPHA:564
HP:0012443	Abnormal brain morphology	51259	TMEM216	ORPHA:564
HP:0012443	Abnormal brain morphology	57545	CC2D2A	ORPHA:564
HP:0012443	Abnormal brain morphology	79583	TMEM231	ORPHA:564
HP:0012443	Abnormal brain morphology	91147	TMEM67	ORPHA:564
HP:0012443	Abnormal brain morphology	27077	B9D1	ORPHA:564
HP:0012443	Abnormal brain morphology	23322	RPGRIP1L	ORPHA:564
HP:0012443	Abnormal brain morphology	54903	MKS1	ORPHA:564
HP:0012443	Abnormal brain morphology	65062	TMEM237	ORPHA:564
HP:0012443	Abnormal brain morphology	5885	RAD21	OMIM:614701
HP:0012443	Abnormal brain morphology	25914	RTTN	ORPHA:468631
HP:0012443	Abnormal brain morphology	8085	KMT2D	OMIM:147920
HP:0012443	Abnormal brain morphology	7403	KDM6A	OMIM:147920
HP:0012443	Abnormal brain morphology	6095	RORA	OMIM:618060
HP:0012443	Abnormal brain morphology	27183	VPS4A	OMIM:619273
HP:0012443	Abnormal brain morphology	23064	SETX	OMIM:606002
HP:0012443	Abnormal brain morphology	81555	YIPF5	OMIM:619278
HP:0012443	Abnormal brain morphology	10159	ATP6AP2	ORPHA:363654
HP:0012443	Abnormal brain morphology	7545	ZIC1	OMIM:616602
HP:0012443	Abnormal brain morphology	7545	ZIC1	OMIM:618736
HP:0012443	Abnormal brain morphology	253738	EBF3	ORPHA:96148
HP:0012443	Abnormal brain morphology	80816	ASXL3	OMIM:615485
HP:0012443	Abnormal brain morphology	1841	DTYMK	OMIM:619847
HP:0012443	Abnormal brain morphology	23291	FBXW11	OMIM:618914
HP:0012443	Abnormal brain morphology	57505	AARS2	OMIM:615889
HP:0012443	Abnormal brain morphology	8893	EIF2B5	OMIM:620315
HP:0012443	Abnormal brain morphology	24142	NAA80	OMIM:620830
HP:0012443	Abnormal brain morphology	90161	HS6ST2	OMIM:301025
HP:0012443	Abnormal brain morphology	129685	TAF8	OMIM:619972
HP:0012443	Abnormal brain morphology	10588	MTHFS	OMIM:618367
HP:0012443	Abnormal brain morphology	80311	KLHL15	OMIM:300982
HP:0012443	Abnormal brain morphology	25930	PTPN23	OMIM:618890
HP:0012443	Abnormal brain morphology	200734	SPRED2	OMIM:619745
HP:0012443	Abnormal brain morphology	4329	ALDH6A1	OMIM:614105
HP:0012443	Abnormal brain morphology	93210	PGAP3	OMIM:615716
HP:0012443	Abnormal brain morphology	26576	SRPK3	OMIM:301134
HP:0012443	Abnormal brain morphology	284252	KCTD1	OMIM:181270
HP:0012443	Abnormal brain morphology	91875	TTC5	OMIM:619244
HP:0012443	Abnormal brain morphology	7443	VRK1	OMIM:607596
HP:0012443	Abnormal brain morphology	51244	CCDC174	OMIM:616816
HP:0012443	Abnormal brain morphology	10430	TMEM147	OMIM:620075
HP:0012443	Abnormal brain morphology	738	VPS51	OMIM:618606
HP:0012443	Abnormal brain morphology	1523	CUX1	OMIM:618330
HP:0012443	Abnormal brain morphology	3763	KCNJ6	OMIM:614098
HP:0012443	Abnormal brain morphology	2778	GNAS	OMIM:612462
HP:0012443	Abnormal brain morphology	2778	GNAS	OMIM:103580
HP:0012443	Abnormal brain morphology	2778	GNAS	ORPHA:79443
HP:0012443	Abnormal brain morphology	2778	GNAS	ORPHA:79444
HP:0012443	Abnormal brain morphology	1075	CTSC	OMIM:245000
HP:0012443	Abnormal brain morphology	80267	EDEM3	OMIM:619493
HP:0012443	Abnormal brain morphology	23259	DDHD2	ORPHA:320380
HP:0012443	Abnormal brain morphology	84334	COA8	ORPHA:436271
HP:0012443	Abnormal brain morphology	1642	DDB1	OMIM:619426
HP:0012443	Abnormal brain morphology	4713	NDUFB7	OMIM:620135
HP:0012443	Abnormal brain morphology	4358	MPV17	OMIM:256810
HP:0012443	Abnormal brain morphology	27286	SRPX2	ORPHA:98889
HP:0012443	Abnormal brain morphology	8622	PDE8B	OMIM:609161
HP:0012443	Abnormal brain morphology	112755	STX1B	ORPHA:36387
HP:0012443	Abnormal brain morphology	26173	INTS1	OMIM:618571
HP:0012443	Abnormal brain morphology	51780	KDM3B	OMIM:618846
HP:0012443	Abnormal brain morphology	3781	KCNN2	OMIM:619725
HP:0012443	Abnormal brain morphology	5251	PHEX	ORPHA:89936
HP:0012443	Abnormal brain morphology	9772	TMEM94	OMIM:618316
HP:0012443	Abnormal brain morphology	6774	STAT3	ORPHA:2314
HP:0012443	Abnormal brain morphology	11145	PLAAT3	OMIM:620683
HP:0012443	Abnormal brain morphology	5076	PAX2	OMIM:120330
HP:0012443	Abnormal brain morphology	161742	SPRED1	ORPHA:137605
HP:0012443	Abnormal brain morphology	135	ADORA2A	ORPHA:363549
HP:0012443	Abnormal brain morphology	790955	UQCC3	OMIM:616111
HP:0012443	Abnormal brain morphology	51204	TACO1	OMIM:619052
HP:0012443	Abnormal brain morphology	57107	PDSS2	OMIM:614652
HP:0012443	Abnormal brain morphology	5091	PC	OMIM:266150
HP:0012443	Abnormal brain morphology	3949	LDLR	ORPHA:391665
HP:0012443	Abnormal brain morphology	255738	PCSK9	ORPHA:391665
HP:0012443	Abnormal brain morphology	26119	LDLRAP1	ORPHA:391665
HP:0012443	Abnormal brain morphology	338	APOB	ORPHA:391665
HP:0012443	Abnormal brain morphology	64240	ABCG5	ORPHA:391665
HP:0012443	Abnormal brain morphology	64241	ABCG8	ORPHA:391665
HP:0012443	Abnormal brain morphology	8131	NPRL3	ORPHA:98820
HP:0012443	Abnormal brain morphology	10641	NPRL2	ORPHA:98820
HP:0012443	Abnormal brain morphology	55777	MBD5	OMIM:156200
HP:0012443	Abnormal brain morphology	23229	ARHGEF9	ORPHA:163985
HP:0012443	Abnormal brain morphology	23229	ARHGEF9	OMIM:300607
HP:0012443	Abnormal brain morphology	79903	NAA60	OMIM:620786
HP:0012443	Abnormal brain morphology	5932	RBBP8	OMIM:606744
HP:0012443	Abnormal brain morphology	27229	TUBGCP4	ORPHA:2518
HP:0012443	Abnormal brain morphology	7469	NELFA	ORPHA:280
HP:0012443	Abnormal brain morphology	9915	ARNT2	ORPHA:3157
HP:0012443	Abnormal brain morphology	26278	SACS	ORPHA:98
HP:0012443	Abnormal brain morphology	10059	DNM1L	ORPHA:98673
HP:0012443	Abnormal brain morphology	4976	OPA1	ORPHA:98673
HP:0012443	Abnormal brain morphology	535	ATP6V0A1	OMIM:619971
HP:0012443	Abnormal brain morphology	8913	CACNA1G	ORPHA:458803
HP:0012443	Abnormal brain morphology	23345	SYNE1	ORPHA:88644
HP:0012443	Abnormal brain morphology	9512	PMPCB	OMIM:617954
HP:0012443	Abnormal brain morphology	6709	SPTAN1	OMIM:613477
HP:0012443	Abnormal brain morphology	131118	DNAJC19	ORPHA:66634
HP:0012443	Abnormal brain morphology	8560	DEGS1	OMIM:618404
HP:0012443	Abnormal brain morphology	1786	DNMT1	ORPHA:314404
HP:0012443	Abnormal brain morphology	90624	LYRM7	OMIM:615838
HP:0012443	Abnormal brain morphology	60481	ELOVL5	OMIM:615957
HP:0012443	Abnormal brain morphology	5611	DNAJC3	OMIM:616192
HP:0012443	Abnormal brain morphology	5611	DNAJC3	ORPHA:445062
HP:0012443	Abnormal brain morphology	10715	CERS1	OMIM:616230
HP:0012443	Abnormal brain morphology	10935	PRDX3	OMIM:619862
HP:0012443	Abnormal brain morphology	246243	RNASEH1	OMIM:616479
HP:0012443	Abnormal brain morphology	79152	FA2H	ORPHA:171629
HP:0012443	Abnormal brain morphology	79152	FA2H	OMIM:612319
HP:0012443	Abnormal brain morphology	27445	PCLO	OMIM:608027
HP:0012443	Abnormal brain morphology	6908	TBP	ORPHA:98759
HP:0012443	Abnormal brain morphology	56652	TWNK	OMIM:271245
HP:0012443	Abnormal brain morphology	4036	LRP2	OMIM:222448
HP:0012443	Abnormal brain morphology	4036	LRP2	ORPHA:2143
HP:0012443	Abnormal brain morphology	51114	ZDHHC9	ORPHA:776
HP:0012443	Abnormal brain morphology	65109	UPF3B	ORPHA:776
HP:0012443	Abnormal brain morphology	777	CACNA1E	OMIM:618285
HP:0012443	Abnormal brain morphology	51728	POLR3K	OMIM:619310
HP:0012443	Abnormal brain morphology	27247	NFU1	OMIM:620938
HP:0012443	Abnormal brain morphology	4191	MDH2	OMIM:617339
HP:0012443	Abnormal brain morphology	51761	ATP8A2	OMIM:615268
HP:0012443	Abnormal brain morphology	23636	NUP62	ORPHA:225154
HP:0012443	Abnormal brain morphology	53371	NUP54	ORPHA:225154
HP:0012443	Abnormal brain morphology	1621	DBH	OMIM:223360
HP:0012443	Abnormal brain morphology	3547	IGSF1	OMIM:300888
HP:0012443	Abnormal brain morphology	8675	STX16	ORPHA:94089
HP:0012443	Abnormal brain morphology	1730	DIAPH2	OMIM:300511
HP:0012443	Abnormal brain morphology	2100	ESR2	OMIM:618187
HP:0012443	Abnormal brain morphology	147872	KASH5	OMIM:620548
HP:0012443	Abnormal brain morphology	84515	MCM8	OMIM:612885
HP:0012443	Abnormal brain morphology	7555	CNBP	OMIM:602668
HP:0012443	Abnormal brain morphology	317761	C14orf39	OMIM:619203
HP:0012443	Abnormal brain morphology	3972	LHB	OMIM:228300
HP:0012443	Abnormal brain morphology	164045	HFM1	OMIM:615724
HP:0012443	Abnormal brain morphology	84634	KISS1R	OMIM:176400
HP:0012443	Abnormal brain morphology	84690	SPATA22	OMIM:621002
HP:0012443	Abnormal brain morphology	254394	MCM9	OMIM:616185
HP:0012443	Abnormal brain morphology	221711	SYCP2L	OMIM:620840
HP:0012443	Abnormal brain morphology	658	BMPR1B	OMIM:609441
HP:0012443	Abnormal brain morphology	367	AR	OMIM:300068
HP:0012443	Abnormal brain morphology	84733	CBX2	OMIM:613080
HP:0012443	Abnormal brain morphology	93953	GCNA	OMIM:301077
HP:0012443	Abnormal brain morphology	2661	GDF9	OMIM:618014
HP:0012443	Abnormal brain morphology	55012	PPP2R3C	OMIM:618419
HP:0012443	Abnormal brain morphology	344018	FIGLA	OMIM:612310
HP:0012443	Abnormal brain morphology	78995	HROB	OMIM:620897
HP:0012443	Abnormal brain morphology	7200	TRH	OMIM:275120
HP:0012443	Abnormal brain morphology	3952	LEP	ORPHA:66628
HP:0012443	Abnormal brain morphology	3458	IFNG	OMIM:613254
HP:0012443	Abnormal brain morphology	3458	IFNG	ORPHA:805
HP:0012443	Abnormal brain morphology	8405	SPOP	OMIM:618828
HP:0012443	Abnormal brain morphology	85459	CEP295	OMIM:620767
HP:0012443	Abnormal brain morphology	5456	POU3F4	ORPHA:1435
HP:0012443	Abnormal brain morphology	55599	RNPC3	OMIM:618160
HP:0012443	Abnormal brain morphology	2688	GH1	OMIM:173100
HP:0012443	Abnormal brain morphology	148867	SLC30A7	OMIM:620501
HP:0012443	Abnormal brain morphology	6926	TBX3	OMIM:181450
HP:0012443	Abnormal brain morphology	8567	MADD	OMIM:619004
HP:0012443	Abnormal brain morphology	2692	GHRHR	OMIM:618157
HP:0012443	Abnormal brain morphology	4990	SIX6	OMIM:206900
HP:0012443	Abnormal brain morphology	2018	EMX2	OMIM:269160
HP:0012443	Abnormal brain morphology	4693	NDP	ORPHA:649
HP:0012443	Abnormal brain morphology	55209	SETD5	ORPHA:404440
HP:0012443	Abnormal brain morphology	51021	MRPS16	OMIM:610498
HP:0012443	Abnormal brain morphology	29998	BICRA	OMIM:619325
HP:0012443	Abnormal brain morphology	23030	KDM4B	OMIM:619320
HP:0012443	Abnormal brain morphology	9918	NCAPD2	OMIM:617983
HP:0012443	Abnormal brain morphology	1984	EIF5A	OMIM:619376
HP:0012443	Abnormal brain morphology	51294	PCDH12	OMIM:251280
HP:0012443	Abnormal brain morphology	6045	RNF2	OMIM:619460
HP:0012443	Abnormal brain morphology	4905	NSF	OMIM:619340
HP:0012443	Abnormal brain morphology	3712	IVD	OMIM:243500
HP:0012443	Abnormal brain morphology	9095	TBX19	OMIM:201400
HP:0012443	Abnormal brain morphology	84133	ZNRF3	ORPHA:1501
HP:0012443	Abnormal brain morphology	1583	CYP11A1	ORPHA:289548
HP:0012443	Abnormal brain morphology	1583	CYP11A1	ORPHA:168558
HP:0012443	Abnormal brain morphology	1583	CYP11A1	OMIM:613743
HP:0012443	Abnormal brain morphology	3284	HSD3B2	ORPHA:90791
HP:0012443	Abnormal brain morphology	4173	MCM4	OMIM:609981
HP:0012443	Abnormal brain morphology	51004	COQ6	ORPHA:93921
HP:0012443	Abnormal brain morphology	8216	LZTR1	ORPHA:93921
HP:0012443	Abnormal brain morphology	23432	GPR161	ORPHA:95496
HP:0012443	Abnormal brain morphology	120892	LRRK2	OMIM:607060
HP:0012443	Abnormal brain morphology	5071	PRKN	OMIM:600116
HP:0012443	Abnormal brain morphology	126	ADH1C	OMIM:168600
HP:0012443	Abnormal brain morphology	4576	MT-TT	OMIM:168600
HP:0012443	Abnormal brain morphology	9627	SNCAIP	OMIM:168600
HP:0012443	Abnormal brain morphology	25793	FBXO7	ORPHA:171695
HP:0012443	Abnormal brain morphology	2488	FSHB	OMIM:229070
HP:0012443	Abnormal brain morphology	10015	PDCD6IP	OMIM:620047
HP:0012443	Abnormal brain morphology	55773	TBC1D23	OMIM:617695
HP:0012443	Abnormal brain morphology	94005	PIGS	OMIM:618143
HP:0012443	Abnormal brain morphology	9681	DEPDC5	OMIM:620504
HP:0012443	Abnormal brain morphology	11340	EXOSC8	ORPHA:2254
HP:0012443	Abnormal brain morphology	5393	EXOSC9	ORPHA:2254
HP:0012443	Abnormal brain morphology	51010	EXOSC3	ORPHA:2254
HP:0012443	Abnormal brain morphology	91137	SLC25A46	ORPHA:2254
HP:0012443	Abnormal brain morphology	91137	SLC25A46	OMIM:619303
HP:0012443	Abnormal brain morphology	85440	DOCK7	ORPHA:411986
HP:0012443	Abnormal brain morphology	85440	DOCK7	OMIM:615859
HP:0012443	Abnormal brain morphology	5649	RELN	OMIM:257320
HP:0012443	Abnormal brain morphology	724066	ATXN8	ORPHA:98760
HP:0012443	Abnormal brain morphology	6315	ATXN8OS	ORPHA:98760
HP:0012443	Abnormal brain morphology	10733	PLK4	OMIM:616171
HP:0012443	Abnormal brain morphology	4190	MDH1	OMIM:618959
HP:0012443	Abnormal brain morphology	4081	MAB21L1	OMIM:618479
HP:0012443	Abnormal brain morphology	4081	MAB21L1	ORPHA:495875
HP:0012443	Abnormal brain morphology	64221	ROBO3	OMIM:607313
HP:0012443	Abnormal brain morphology	57231	SNX14	ORPHA:397709
HP:0012443	Abnormal brain morphology	6595	SMARCA2	OMIM:619293
HP:0012443	Abnormal brain morphology	10273	STUB1	ORPHA:412057
HP:0012443	Abnormal brain morphology	9439	MED23	OMIM:614249
HP:0012443	Abnormal brain morphology	8884	SLC5A6	OMIM:618973
HP:0012443	Abnormal brain morphology	7471	WNT1	OMIM:615220
HP:0012443	Abnormal brain morphology	10243	GPHN	OMIM:615501
HP:0012443	Abnormal brain morphology	9181	ARHGEF2	OMIM:617523
HP:0012443	Abnormal brain morphology	51013	EXOSC1	OMIM:619304
HP:0012443	Abnormal brain morphology	7319	UBE2A	ORPHA:163956
HP:0012443	Abnormal brain morphology	57724	EPG5	ORPHA:1493
HP:0012443	Abnormal brain morphology	59336	PRDM13	OMIM:619909
HP:0012443	Abnormal brain morphology	137682	NDUFAF6	OMIM:618239
HP:0012443	Abnormal brain morphology	10083	USH1C	ORPHA:231169
HP:0012443	Abnormal brain morphology	124590	USH1G	ORPHA:231169
HP:0012443	Abnormal brain morphology	83715	ESPN	ORPHA:231169
HP:0012443	Abnormal brain morphology	10518	CIB2	ORPHA:231169
HP:0012443	Abnormal brain morphology	4647	MYO7A	ORPHA:231169
HP:0012443	Abnormal brain morphology	4647	MYO7A	ORPHA:231178
HP:0012443	Abnormal brain morphology	65217	PCDH15	ORPHA:231169
HP:0012443	Abnormal brain morphology	4644	MYO5A	ORPHA:33445
HP:0012443	Abnormal brain morphology	7399	USH2A	ORPHA:231178
HP:0012443	Abnormal brain morphology	79955	PDZD7	ORPHA:231178
HP:0012443	Abnormal brain morphology	25861	WHRN	ORPHA:231178
HP:0012443	Abnormal brain morphology	84059	ADGRV1	ORPHA:231178
HP:0012443	Abnormal brain morphology	3953	LEPR	OMIM:614963
HP:0012443	Abnormal brain morphology	6660	SOX5	ORPHA:313892
HP:0012443	Abnormal brain morphology	51322	WAC	ORPHA:284169
HP:0012443	Abnormal brain morphology	23019	CNOT1	ORPHA:556955
HP:0012443	Abnormal brain morphology	11253	MAN1B1	ORPHA:397941
HP:0012443	Abnormal brain morphology	23394	ADNP	ORPHA:404448
HP:0012443	Abnormal brain morphology	79868	ALG13	ORPHA:324422
HP:0012443	Abnormal brain morphology	284058	KANSL1	ORPHA:363958
HP:0012443	Abnormal brain morphology	284058	KANSL1	ORPHA:363965
HP:0012443	Abnormal brain morphology	6651	SON	ORPHA:500150
HP:0012443	Abnormal brain morphology	166378	AFG2A	ORPHA:457351
HP:0012443	Abnormal brain morphology	51360	MBTPS2	ORPHA:85284
HP:0012443	Abnormal brain morphology	25974	MMACHC	ORPHA:79282
HP:0012443	Abnormal brain morphology	9361	LONP1	ORPHA:79243
HP:0012443	Abnormal brain morphology	5160	PDHA1	ORPHA:79243
HP:0012443	Abnormal brain morphology	1376	CPT2	ORPHA:228308
HP:0012443	Abnormal brain morphology	28514	DLL1	OMIM:618709
HP:0012443	Abnormal brain morphology	79644	SRD5A3	ORPHA:324737
HP:0012443	Abnormal brain morphology	79228	THOC6	ORPHA:363444
HP:0012443	Abnormal brain morphology	29925	GMPPB	ORPHA:370959
HP:0012443	Abnormal brain morphology	79147	FKRP	ORPHA:370959
HP:0012443	Abnormal brain morphology	29954	POMT2	ORPHA:370959
HP:0012443	Abnormal brain morphology	84197	POMK	ORPHA:370959
HP:0012443	Abnormal brain morphology	55624	POMGNT1	ORPHA:370959
HP:0012443	Abnormal brain morphology	10585	POMT1	ORPHA:370959
HP:0012443	Abnormal brain morphology	4524	MTHFR	ORPHA:563612
HP:0012443	Abnormal brain morphology	57216	VANGL2	ORPHA:563612
HP:0012443	Abnormal brain morphology	23111	SPART	ORPHA:101000
HP:0012443	Abnormal brain morphology	26053	AUTS2	ORPHA:352490
HP:0012443	Abnormal brain morphology	113179	ADAT3	ORPHA:363528
HP:0012443	Abnormal brain morphology	83696	TRAPPC9	ORPHA:352530
HP:0012443	Abnormal brain morphology	27245	AHDC1	ORPHA:412069
HP:0012443	Abnormal brain morphology	4281	MID1	ORPHA:2745
HP:0012443	Abnormal brain morphology	55690	PACS1	ORPHA:329224
HP:0012443	Abnormal brain morphology	55294	FBXW7	OMIM:620012
HP:0012443	Abnormal brain morphology	54496	PRMT7	ORPHA:464288
HP:0012443	Abnormal brain morphology	7187	TRAF3	ORPHA:1930
HP:0012443	Abnormal brain morphology	81622	UNC93B1	ORPHA:1930
HP:0012443	Abnormal brain morphology	148022	TICAM1	ORPHA:1930
HP:0012443	Abnormal brain morphology	7098	TLR3	ORPHA:1930
HP:0012443	Abnormal brain morphology	29110	TBK1	ORPHA:1930
HP:0012443	Abnormal brain morphology	3756	KCNH1	ORPHA:420561
HP:0012443	Abnormal brain morphology	25978	CHMP2B	ORPHA:100069
HP:0012443	Abnormal brain morphology	5663	PSEN1	ORPHA:100069
HP:0012443	Abnormal brain morphology	2896	GRN	ORPHA:100069
HP:0012443	Abnormal brain morphology	54664	TMEM106B	ORPHA:100069
HP:0012443	Abnormal brain morphology	4137	MAPT	ORPHA:100069
HP:0012443	Abnormal brain morphology	54209	TREM2	ORPHA:100069
HP:0012443	Abnormal brain morphology	55906	ZC4H2	OMIM:301041
HP:0012443	Abnormal brain morphology	4558	MT-TF	ORPHA:550
HP:0012443	Abnormal brain morphology	4572	MT-TQ	ORPHA:550
HP:0012443	Abnormal brain morphology	4512	MT-CO1	ORPHA:550
HP:0012443	Abnormal brain morphology	4513	MT-CO2	ORPHA:550
HP:0012443	Abnormal brain morphology	4514	MT-CO3	ORPHA:550
HP:0012443	Abnormal brain morphology	4578	MT-TW	ORPHA:550
HP:0012443	Abnormal brain morphology	4540	MT-ND5	ORPHA:550
HP:0012443	Abnormal brain morphology	4541	MT-ND6	ORPHA:550
HP:0012443	Abnormal brain morphology	4535	MT-ND1	ORPHA:550
HP:0012443	Abnormal brain morphology	4538	MT-ND4	ORPHA:550
HP:0012443	Abnormal brain morphology	4567	MT-TL1	ORPHA:550
HP:0012443	Abnormal brain morphology	4574	MT-TS1	ORPHA:550
HP:0012443	Abnormal brain morphology	4575	MT-TS2	ORPHA:550
HP:0012443	Abnormal brain morphology	4564	MT-TH	ORPHA:550
HP:0012443	Abnormal brain morphology	10466	COG5	ORPHA:263487
HP:0012443	Abnormal brain morphology	51399	TRAPPC4	OMIM:618741
HP:0012443	Abnormal brain morphology	4723	NDUFV1	OMIM:618225
HP:0012443	Abnormal brain morphology	9853	RUSC2	OMIM:617773
HP:0012443	Abnormal brain morphology	54517	PUS7	OMIM:618342
HP:0012443	Abnormal brain morphology	5994	RFXAP	OMIM:620817
HP:0012443	Abnormal brain morphology	1161	ERCC8	ORPHA:90324
HP:0012443	Abnormal brain morphology	2074	ERCC6	ORPHA:90324
HP:0012443	Abnormal brain morphology	2074	ERCC6	OMIM:214150
HP:0012443	Abnormal brain morphology	54973	INTS11	OMIM:620428
HP:0012443	Abnormal brain morphology	4719	NDUFS1	OMIM:618226
HP:0012443	Abnormal brain morphology	55746	NUP133	OMIM:618349
HP:0012443	Abnormal brain morphology	4720	NDUFS2	OMIM:618228
HP:0012443	Abnormal brain morphology	7415	VCP	OMIM:167320
HP:0012443	Abnormal brain morphology	7415	VCP	ORPHA:52430
HP:0012443	Abnormal brain morphology	4729	NDUFV2	OMIM:618229
HP:0012443	Abnormal brain morphology	10274	STAG1	ORPHA:502434
HP:0012443	Abnormal brain morphology	84320	ACBD6	OMIM:620785
HP:0012443	Abnormal brain morphology	132158	GLYCTK	ORPHA:941
HP:0012443	Abnormal brain morphology	1729	DIAPH1	ORPHA:477814
HP:0012443	Abnormal brain morphology	6341	SCO1	OMIM:619048
HP:0012443	Abnormal brain morphology	126328	NDUFA11	OMIM:618236
HP:0012443	Abnormal brain morphology	283489	CHAMP1	OMIM:616579
HP:0012443	Abnormal brain morphology	22880	MORC2	ORPHA:466768
HP:0012443	Abnormal brain morphology	4552	MTRR	ORPHA:2169
HP:0012443	Abnormal brain morphology	65082	VPS33A	OMIM:617303
HP:0012443	Abnormal brain morphology	65082	VPS33A	ORPHA:505248
HP:0012443	Abnormal brain morphology	10730	YME1L1	OMIM:617302
HP:0012443	Abnormal brain morphology	9640	ZNF592	ORPHA:83472
HP:0012443	Abnormal brain morphology	84942	WDR73	ORPHA:83472
HP:0012443	Abnormal brain morphology	8312	AXIN1	OMIM:620558
HP:0012443	Abnormal brain morphology	57582	KCNT1	OMIM:614959
HP:0012443	Abnormal brain morphology	56246	MRAP	OMIM:607398
HP:0012443	Abnormal brain morphology	9382	COG1	OMIM:611209
HP:0012443	Abnormal brain morphology	1353	COX11	OMIM:620275
HP:0012443	Abnormal brain morphology	79068	FTO	OMIM:612938
HP:0012443	Abnormal brain morphology	427	ASAH1	ORPHA:333
HP:0012443	Abnormal brain morphology	2895	GRID2	ORPHA:363432
HP:0012443	Abnormal brain morphology	1351	COX8A	OMIM:619059
HP:0012443	Abnormal brain morphology	10134	BCAP31	ORPHA:369939
HP:0012443	Abnormal brain morphology	3899	AFF3	OMIM:619297
HP:0012443	Abnormal brain morphology	2072	ERCC4	OMIM:278760
HP:0012443	Abnormal brain morphology	11080	DNAJB4	OMIM:620326
HP:0012443	Abnormal brain morphology	27315	PGAP2	OMIM:614207
HP:0012443	Abnormal brain morphology	400569	MED11	OMIM:620327
HP:0012443	Abnormal brain morphology	93627	TBCK	OMIM:616900
HP:0012443	Abnormal brain morphology	29967	LRP12	OMIM:164310
HP:0012443	Abnormal brain morphology	501	ALDH7A1	ORPHA:3006
HP:0012443	Abnormal brain morphology	11212	PLPBP	ORPHA:3006
HP:0012443	Abnormal brain morphology	11212	PLPBP	OMIM:617290
HP:0012443	Abnormal brain morphology	1130	LYST	ORPHA:167
HP:0012443	Abnormal brain morphology	84504	NKX6-2	OMIM:617560
HP:0012443	Abnormal brain morphology	283987	HID1	OMIM:619983
HP:0012443	Abnormal brain morphology	56479	KCNQ5	OMIM:617601
HP:0012443	Abnormal brain morphology	23065	EMC1	OMIM:616875
HP:0012443	Abnormal brain morphology	6785	ELOVL4	OMIM:614457
HP:0012443	Abnormal brain morphology	2752	GLUL	OMIM:610015
HP:0012443	Abnormal brain morphology	3737	KCNA2	ORPHA:442835
HP:0012443	Abnormal brain morphology	8120	AP3B2	ORPHA:442835
HP:0012443	Abnormal brain morphology	523	ATP6V1A	ORPHA:442835
HP:0012443	Abnormal brain morphology	10991	SLC38A3	ORPHA:442835
HP:0012443	Abnormal brain morphology	51343	FZR1	ORPHA:442835
HP:0012443	Abnormal brain morphology	3747	KCNC2	ORPHA:442835
HP:0012443	Abnormal brain morphology	1917	EEF1A2	ORPHA:442835
HP:0012443	Abnormal brain morphology	23219	FBXO28	ORPHA:442835
HP:0012443	Abnormal brain morphology	23219	FBXO28	OMIM:619777
HP:0012443	Abnormal brain morphology	2561	GABRB2	ORPHA:442835
HP:0012443	Abnormal brain morphology	8831	SYNGAP1	ORPHA:442835
HP:0012443	Abnormal brain morphology	8831	SYNGAP1	OMIM:612621
HP:0012443	Abnormal brain morphology	2558	GABRA5	ORPHA:442835
HP:0012443	Abnormal brain morphology	2906	GRIN2D	ORPHA:442835
HP:0012443	Abnormal brain morphology	116150	NUS1	ORPHA:442835
HP:0012443	Abnormal brain morphology	1213	CLTC	ORPHA:442835
HP:0012443	Abnormal brain morphology	51741	WWOX	ORPHA:442835
HP:0012443	Abnormal brain morphology	23334	SZT2	ORPHA:442835
HP:0012443	Abnormal brain morphology	348980	HCN1	ORPHA:442835
HP:0012443	Abnormal brain morphology	25977	NECAP1	ORPHA:442835
HP:0012443	Abnormal brain morphology	25977	NECAP1	OMIM:615833
HP:0012443	Abnormal brain morphology	23241	PACS2	ORPHA:442835
HP:0012443	Abnormal brain morphology	16	AARS1	ORPHA:442835
HP:0012443	Abnormal brain morphology	6334	SCN8A	ORPHA:442835
HP:0012443	Abnormal brain morphology	9568	GABBR2	ORPHA:442835
HP:0012443	Abnormal brain morphology	2555	GABRA2	ORPHA:442835
HP:0012443	Abnormal brain morphology	55152	DALRD3	ORPHA:442835
HP:0012443	Abnormal brain morphology	26999	CYFIP2	ORPHA:442835
HP:0012443	Abnormal brain morphology	4915	NTRK2	ORPHA:442835
HP:0012443	Abnormal brain morphology	25973	PARS2	ORPHA:442835
HP:0012443	Abnormal brain morphology	23097	CDK19	ORPHA:442835
HP:0012443	Abnormal brain morphology	2257	FGF12	ORPHA:442835
HP:0012443	Abnormal brain morphology	5530	PPP3CA	ORPHA:442835
HP:0012443	Abnormal brain morphology	478	ATP1A3	ORPHA:442835
HP:0012443	Abnormal brain morphology	22906	TRAK1	ORPHA:442835
HP:0012443	Abnormal brain morphology	2566	GABRG2	ORPHA:442835
HP:0012443	Abnormal brain morphology	7532	YWHAG	ORPHA:442835
HP:0012443	Abnormal brain morphology	79876	UBA5	ORPHA:442835
HP:0012443	Abnormal brain morphology	6328	SCN3A	ORPHA:442835
HP:0012443	Abnormal brain morphology	781	CACNA2D1	ORPHA:442835
HP:0012443	Abnormal brain morphology	10659	CELF2	ORPHA:442835
HP:0012443	Abnormal brain morphology	774	CACNA1B	ORPHA:442835
HP:0012443	Abnormal brain morphology	51412	ACTL6B	ORPHA:442835
HP:0012443	Abnormal brain morphology	2290	FOXG1	ORPHA:442835
HP:0012443	Abnormal brain morphology	6506	SLC1A2	ORPHA:442835
HP:0012443	Abnormal brain morphology	8867	SYNJ1	ORPHA:442835
HP:0012443	Abnormal brain morphology	8867	SYNJ1	ORPHA:391411
HP:0012443	Abnormal brain morphology	477	ATP1A2	ORPHA:442835
HP:0012443	Abnormal brain morphology	3745	KCNB1	ORPHA:442835
HP:0012443	Abnormal brain morphology	284111	SLC13A5	ORPHA:442835
HP:0012443	Abnormal brain morphology	22866	CNKSR2	ORPHA:442835
HP:0012443	Abnormal brain morphology	79947	DHDDS	ORPHA:442835
HP:0012443	Abnormal brain morphology	84947	SERAC1	OMIM:614739
HP:0012443	Abnormal brain morphology	26834	RNU4-2	OMIM:620851
HP:0012443	Abnormal brain morphology	374654	KIF7	OMIM:607131
HP:0012443	Abnormal brain morphology	26227	PHGDH	OMIM:256520
HP:0012443	Abnormal brain morphology	443	ASPA	OMIM:271900
HP:0012443	Abnormal brain morphology	51241	COX16	OMIM:619355
HP:0012443	Abnormal brain morphology	149371	EXOC8	OMIM:619076
HP:0012443	Abnormal brain morphology	28962	OSTM1	ORPHA:85179
HP:0012443	Abnormal brain morphology	10846	PDE10A	ORPHA:494526
HP:0012443	Abnormal brain morphology	56006	SMG9	OMIM:616920
HP:0012443	Abnormal brain morphology	51002	TPRKB	OMIM:617731
HP:0012443	Abnormal brain morphology	8239	USP9X	ORPHA:480880
HP:0012443	Abnormal brain morphology	3704	ITPA	OMIM:616647
HP:0012443	Abnormal brain morphology	55823	VPS11	OMIM:619637
HP:0012443	Abnormal brain morphology	79751	SLC25A22	OMIM:609304
HP:0012443	Abnormal brain morphology	378884	NHLRC1	ORPHA:501
HP:0012443	Abnormal brain morphology	7957	EPM2A	ORPHA:501
HP:0012443	Abnormal brain morphology	79759	ZNF668	OMIM:620194
HP:0012443	Abnormal brain morphology	9829	DNAJC6	ORPHA:391411
HP:0012443	Abnormal brain morphology	5420	PODXL	ORPHA:391411
HP:0012443	Abnormal brain morphology	51611	DPH5	OMIM:620070
HP:0012443	Abnormal brain morphology	4247	MGAT2	ORPHA:79329
HP:0012443	Abnormal brain morphology	6305	SBF1	OMIM:615284
HP:0012443	Abnormal brain morphology	374354	NHLRC2	OMIM:618278
HP:0012443	Abnormal brain morphology	128240	NAXE	OMIM:617186
HP:0012443	Abnormal brain morphology	57570	TRMT5	OMIM:616539
HP:0012443	Abnormal brain morphology	5591	PRKDC	OMIM:615966
HP:0012443	Abnormal brain morphology	9409	PEX16	OMIM:614877
HP:0012443	Abnormal brain morphology	539	ATP5PO	OMIM:620359
HP:0012443	Abnormal brain morphology	57038	RARS2	OMIM:611523
HP:0012443	Abnormal brain morphology	57462	MYORG	OMIM:618317
HP:0012443	Abnormal brain morphology	8911	CACNA1I	OMIM:620114
HP:0012443	Abnormal brain morphology	91949	COG7	ORPHA:79333
HP:0012443	Abnormal brain morphology	84628	NTNG2	OMIM:618718
HP:0012443	Abnormal brain morphology	3178	HNRNPA1	ORPHA:52430
HP:0012443	Abnormal brain morphology	3181	HNRNPA2B1	ORPHA:52430
HP:0012443	Abnormal brain morphology	4854	NOTCH3	ORPHA:136
HP:0012443	Abnormal brain morphology	4677	NARS1	OMIM:619092
HP:0012443	Abnormal brain morphology	50628	GEMIN4	OMIM:617913
HP:0012443	Abnormal brain morphology	875	CBS	OMIM:236200
HP:0012443	Abnormal brain morphology	10195	ALG3	ORPHA:79321
HP:0012443	Abnormal brain morphology	6509	SLC1A4	ORPHA:447997
HP:0012443	Abnormal brain morphology	2801	GOLGA2	OMIM:620240
HP:0012443	Abnormal brain morphology	64802	NMNAT1	OMIM:619260
HP:0012443	Abnormal brain morphology	5654	HTRA1	OMIM:600142
HP:0012443	Abnormal brain morphology	6567	SLC16A2	ORPHA:59
HP:0012443	Abnormal brain morphology	55181	SMG8	OMIM:619268
HP:0012443	Abnormal brain morphology	1892	ECHS1	OMIM:616277
HP:0012443	Abnormal brain morphology	63925	ZNF335	ORPHA:329228
HP:0012443	Abnormal brain morphology	22930	RAB3GAP1	OMIM:619420
HP:0012443	Abnormal brain morphology	8625	RFXANK	OMIM:620815
HP:0012443	Abnormal brain morphology	10535	RNASEH2A	ORPHA:51
HP:0012443	Abnormal brain morphology	84153	RNASEH2C	ORPHA:51
HP:0012443	Abnormal brain morphology	25939	SAMHD1	ORPHA:51
HP:0012443	Abnormal brain morphology	79621	RNASEH2B	ORPHA:51
HP:0012443	Abnormal brain morphology	103	ADAR	ORPHA:51
HP:0012443	Abnormal brain morphology	11277	TREX1	ORPHA:51
HP:0012443	Abnormal brain morphology	100147744	RNU7-1	ORPHA:51
HP:0012443	Abnormal brain morphology	134353	LSM11	ORPHA:51
HP:0012443	Abnormal brain morphology	64135	IFIH1	ORPHA:51
HP:0012443	Abnormal brain morphology	5813	PURA	ORPHA:314655
HP:0012443	Abnormal brain morphology	4488	MSX2	ORPHA:60015
HP:0012443	Abnormal brain morphology	60529	ALX4	ORPHA:60015
HP:0012443	Abnormal brain morphology	64072	CDH23	ORPHA:91347
HP:0012443	Abnormal brain morphology	64072	CDH23	ORPHA:2965
HP:0012443	Abnormal brain morphology	4221	MEN1	ORPHA:2965
HP:0012443	Abnormal brain morphology	9049	AIP	ORPHA:2965
HP:0012443	Abnormal brain morphology	8139	GAN	ORPHA:643
HP:0012443	Abnormal brain morphology	4791	NFKB2	ORPHA:293978
HP:0012443	Abnormal brain morphology	22796	COG2	ORPHA:435934
HP:0012443	Abnormal brain morphology	22796	COG2	OMIM:617395
HP:0012443	Abnormal brain morphology	9394	HS6ST1	OMIM:614880
HP:0012443	Abnormal brain morphology	55131	RBM28	OMIM:612079
HP:0012443	Abnormal brain morphology	23031	MAST3	OMIM:620115
HP:0012443	Abnormal brain morphology	2693	GHSR	OMIM:615925
HP:0012443	Abnormal brain morphology	4953	ODC1	OMIM:619075
HP:0012443	Abnormal brain morphology	4953	ODC1	ORPHA:544488
HP:0012443	Abnormal brain morphology	6134	RPL10	OMIM:300998
HP:0012443	Abnormal brain morphology	6477	SIAH1	OMIM:619314
HP:0012443	Abnormal brain morphology	54453	RIN2	OMIM:613075
HP:0012443	Abnormal brain morphology	5361	PLXNA1	OMIM:619955
HP:0012443	Abnormal brain morphology	7543	ZFX	OMIM:301118
HP:0012443	Abnormal brain morphology	1641	DCX	ORPHA:2148
HP:0012443	Abnormal brain morphology	8398	PLA2G6	OMIM:256600
HP:0012443	Abnormal brain morphology	8398	PLA2G6	ORPHA:199351
HP:0012443	Abnormal brain morphology	8398	PLA2G6	ORPHA:35069
HP:0012443	Abnormal brain morphology	2495	FTH1	OMIM:620669
HP:0012443	Abnormal brain morphology	23230	VPS13A	ORPHA:2388
HP:0012443	Abnormal brain morphology	1356	CP	ORPHA:48818
HP:0012443	Abnormal brain morphology	11152	WDR45	OMIM:300894
HP:0012443	Abnormal brain morphology	11152	WDR45	ORPHA:329284
HP:0012443	Abnormal brain morphology	2512	FTL	ORPHA:157846
HP:0012443	Abnormal brain morphology	1384	CRAT	OMIM:617917
HP:0012443	Abnormal brain morphology	85021	REPS1	OMIM:617916
HP:0012443	Abnormal brain morphology	80025	PANK2	ORPHA:216866
HP:0012443	Abnormal brain morphology	57104	PNPLA2	ORPHA:98908
HP:0012443	Abnormal brain morphology	5718	PSMD12	OMIM:617516
HP:0012443	Abnormal brain morphology	5718	PSMD12	ORPHA:529962
HP:0012443	Abnormal brain morphology	4841	NONO	OMIM:300967
HP:0012443	Abnormal brain morphology	2590	GALNT2	OMIM:618885
HP:0012443	Abnormal brain morphology	2186	BPTF	ORPHA:529962
HP:0012443	Abnormal brain morphology	3643	INSR	ORPHA:769
HP:0012443	Abnormal brain morphology	11023	VAX1	OMIM:614402
HP:0012443	Abnormal brain morphology	1352	COX10	OMIM:619046
HP:0012443	Abnormal brain morphology	6658	SOX3	ORPHA:90695
HP:0012443	Abnormal brain morphology	23474	ETHE1	ORPHA:51188
HP:0012443	Abnormal brain morphology	9131	AIFM1	ORPHA:83629
HP:0012443	Abnormal brain morphology	91574	MTRFR	ORPHA:254930
HP:0012443	Abnormal brain morphology	80704	SLC19A3	ORPHA:263410
HP:0012443	Abnormal brain morphology	84705	GTPBP3	ORPHA:444013
HP:0012443	Abnormal brain morphology	3908	LAMA2	ORPHA:258
HP:0012443	Abnormal brain morphology	25915	NDUFAF3	ORPHA:2609
HP:0012443	Abnormal brain morphology	51103	NDUFAF1	ORPHA:2609
HP:0012443	Abnormal brain morphology	91942	NDUFAF2	ORPHA:2609
HP:0012443	Abnormal brain morphology	4716	NDUFB10	ORPHA:2609
HP:0012443	Abnormal brain morphology	284184	NDUFAF8	ORPHA:2609
HP:0012443	Abnormal brain morphology	55863	TMEM126B	ORPHA:2609
HP:0012443	Abnormal brain morphology	4537	MT-ND3	ORPHA:2609
HP:0012443	Abnormal brain morphology	4694	NDUFA1	ORPHA:2609
HP:0012443	Abnormal brain morphology	4724	NDUFS4	ORPHA:2609
HP:0012443	Abnormal brain morphology	4726	NDUFS6	ORPHA:2609
HP:0012443	Abnormal brain morphology	4722	NDUFS3	ORPHA:2609
HP:0012443	Abnormal brain morphology	79133	NDUFAF5	ORPHA:2609
HP:0012443	Abnormal brain morphology	4709	NDUFB3	ORPHA:2609
HP:0012443	Abnormal brain morphology	80224	NUBPL	ORPHA:2609
HP:0012443	Abnormal brain morphology	29078	NDUFAF4	ORPHA:2609
HP:0012443	Abnormal brain morphology	374291	NDUFS7	ORPHA:2609
HP:0012443	Abnormal brain morphology	4536	MT-ND2	ORPHA:2609
HP:0012443	Abnormal brain morphology	4715	NDUFB9	ORPHA:2609
HP:0012443	Abnormal brain morphology	3658	IREB2	OMIM:618451
HP:0012443	Abnormal brain morphology	10398	MYL9	OMIM:619365
HP:0012443	Abnormal brain morphology	7025	NR2F1	ORPHA:401777
HP:0012443	Abnormal brain morphology	387119	CEP85L	ORPHA:572013
HP:0012443	Abnormal brain morphology	10126	DNAL4	ORPHA:238722
HP:0012443	Abnormal brain morphology	9423	NTN1	ORPHA:238722
HP:0012443	Abnormal brain morphology	4522	MTHFD1	OMIM:617780
HP:0012443	Abnormal brain morphology	54872	PIGG	ORPHA:488635
HP:0012443	Abnormal brain morphology	1387	CREBBP	ORPHA:353277
HP:0012443	Abnormal brain morphology	2033	EP300	ORPHA:353284
HP:0012443	Abnormal brain morphology	3187	HNRNPH1	OMIM:620083
HP:0012443	Abnormal brain morphology	340075	ARSI	ORPHA:401815
HP:0012443	Abnormal brain morphology	23522	KAT6B	OMIM:606170
HP:0012443	Abnormal brain morphology	5828	PEX2	OMIM:614866
HP:0012443	Abnormal brain morphology	51807	TUBA8	ORPHA:250972
HP:0012443	Abnormal brain morphology	23028	KDM1A	ORPHA:477993
HP:0012443	Abnormal brain morphology	57647	DHX37	OMIM:618731
HP:0012443	Abnormal brain morphology	5192	PEX10	OMIM:614870
HP:0012443	Abnormal brain morphology	118924	FRA10AC1	OMIM:620113
HP:0012443	Abnormal brain morphology	55780	ERMARD	ORPHA:75857
HP:0012443	Abnormal brain morphology	1029	CDKN2A	ORPHA:524
HP:0012443	Abnormal brain morphology	4193	MDM2	ORPHA:524
HP:0012443	Abnormal brain morphology	11200	CHEK2	ORPHA:524
HP:0012443	Abnormal brain morphology	324	APC	ORPHA:99818
HP:0012443	Abnormal brain morphology	324	APC	ORPHA:79665
HP:0012443	Abnormal brain morphology	5426	POLE	ORPHA:447877
HP:0012443	Abnormal brain morphology	5424	POLD1	ORPHA:447877
HP:0012443	Abnormal brain morphology	4763	NF1	ORPHA:97685
HP:0012443	Abnormal brain morphology	2313	FLI1	ORPHA:370348
HP:0012443	Abnormal brain morphology	7373	COL14A1	ORPHA:79501
HP:0012443	Abnormal brain morphology	79719	AAGAB	ORPHA:79501
HP:0012443	Abnormal brain morphology	65998	ZFTA	ORPHA:251636
HP:0012443	Abnormal brain morphology	1906	EDN1	ORPHA:137888
HP:0012443	Abnormal brain morphology	5332	PLCB4	ORPHA:137888
HP:0012443	Abnormal brain morphology	2773	GNAI3	ORPHA:137888
HP:0012443	Abnormal brain morphology	100131801	PET100	OMIM:619055
HP:0012443	Abnormal brain morphology	55788	LMBRD1	ORPHA:79284
HP:0012443	Abnormal brain morphology	6678	SPARC	OMIM:616507
HP:0012443	Abnormal brain morphology	165918	RNF168	ORPHA:420741
HP:0012443	Abnormal brain morphology	79853	TM4SF20	OMIM:615432
HP:0012443	Abnormal brain morphology	4762	NEUROG1	OMIM:620469
HP:0012443	Abnormal brain morphology	5058	PAK1	OMIM:618158
HP:0012443	Abnormal brain morphology	9692	PRORP	OMIM:619737
HP:0012443	Abnormal brain morphology	7920	ABHD16A	OMIM:619735
HP:0012443	Abnormal brain morphology	9907	AP5Z1	OMIM:613647
HP:0012443	Abnormal brain morphology	10060	ABCC9	OMIM:619719
HP:0012443	Abnormal brain morphology	26523	AGO1	OMIM:620292
HP:0012443	Abnormal brain morphology	55605	KIF21A	ORPHA:45358
HP:0012443	Abnormal brain morphology	401	PHOX2A	ORPHA:45358
HP:0012443	Abnormal brain morphology	84570	COL25A1	ORPHA:45358
HP:0012443	Abnormal brain morphology	10371	SEMA3A	OMIM:614897
HP:0012443	Abnormal brain morphology	2065	ERBB3	OMIM:243180
HP:0012443	Abnormal brain morphology	60675	PROK2	OMIM:610628
HP:0012443	Abnormal brain morphology	128674	PROKR2	OMIM:244200
HP:0012443	Abnormal brain morphology	2653	GCSH	OMIM:620423
HP:0012443	Abnormal brain morphology	23446	SLC44A1	OMIM:618868
HP:0012443	Abnormal brain morphology	54676	GTPBP2	OMIM:617988
HP:0012443	Abnormal brain morphology	1000	CDH2	OMIM:618929
HP:0012443	Abnormal brain morphology	490	ATP2B1	OMIM:619910
HP:0012443	Abnormal brain morphology	11235	PDCD10	ORPHA:221061
HP:0012443	Abnormal brain morphology	11235	PDCD10	OMIM:603285
HP:0012443	Abnormal brain morphology	6900	CNTN2	OMIM:615400
HP:0012443	Abnormal brain morphology	55182	RNF220	OMIM:619688
HP:0012443	Abnormal brain morphology	1855	DVL1	OMIM:616331
HP:0012443	Abnormal brain morphology	161725	OTUD7A	OMIM:620790
HP:0012443	Abnormal brain morphology	26175	LYSET	OMIM:619345
HP:0012443	Abnormal brain morphology	1725	DHPS	OMIM:618480
HP:0012443	Abnormal brain morphology	540	ATP7B	OMIM:277900
HP:0012443	Abnormal brain morphology	23499	MACF1	OMIM:618325
HP:0012443	Abnormal brain morphology	2193	FARSA	OMIM:619013
HP:0012443	Abnormal brain morphology	116519	APOA5	OMIM:145750
HP:0012443	Abnormal brain morphology	80324	PUS1	OMIM:600462
HP:0012443	Abnormal brain morphology	257	ALX3	ORPHA:391474
HP:0012443	Abnormal brain morphology	8517	IKBKG	ORPHA:98813
HP:0012443	Abnormal brain morphology	4792	NFKBIA	ORPHA:98813
HP:0012443	Abnormal brain morphology	7873	MANF	OMIM:620651
HP:0012443	Abnormal brain morphology	134218	DNAJC21	ORPHA:811
HP:0012443	Abnormal brain morphology	79631	EFL1	ORPHA:811
HP:0012443	Abnormal brain morphology	51119	SBDS	ORPHA:811
HP:0012443	Abnormal brain morphology	10367	MICU1	OMIM:615673
HP:0012443	Abnormal brain morphology	5455	POU3F3	OMIM:618604
HP:0012443	Abnormal brain morphology	170825	GSX2	OMIM:618646
HP:0012443	Abnormal brain morphology	23347	SMCHD1	ORPHA:2250
HP:0012443	Abnormal brain morphology	93986	FOXP2	ORPHA:251061
HP:0012443	Abnormal brain morphology	54704	PDP1	ORPHA:79246
HP:0012443	Abnormal brain morphology	2643	GCH1	ORPHA:98808
HP:0012443	Abnormal brain morphology	4929	NR4A2	ORPHA:98808
HP:0012443	Abnormal brain morphology	3615	IMPDH2	ORPHA:98808
HP:0012443	Abnormal brain morphology	80208	SPG11	ORPHA:2822
HP:0012443	Abnormal brain morphology	6311	ATXN2	ORPHA:98756
HP:0012443	Abnormal brain morphology	819	CAMLG	OMIM:620201
HP:0012443	Abnormal brain morphology	1785	DNM2	OMIM:615368
HP:0012443	Abnormal brain morphology	3703	STT3A	OMIM:619714
HP:0012443	Abnormal brain morphology	8241	RBM10	OMIM:311900
HP:0012443	Abnormal brain morphology	10526	IPO8	OMIM:619472
HP:0012443	Abnormal brain morphology	7072	TIA1	OMIM:619133
HP:0012443	Abnormal brain morphology	6620	SNCB	OMIM:127750
HP:0012443	Abnormal brain morphology	56978	PRDM8	ORPHA:324290
HP:0012443	Abnormal brain morphology	56978	PRDM8	OMIM:616640
HP:0012443	Abnormal brain morphology	5290	PIK3CA	ORPHA:276280
HP:0012443	Abnormal brain morphology	2658	GDF2	ORPHA:774
HP:0012443	Abnormal brain morphology	94	ACVRL1	ORPHA:774
HP:0012443	Abnormal brain morphology	4089	SMAD4	ORPHA:774
HP:0012443	Abnormal brain morphology	351	APP	ORPHA:324703
HP:0012443	Abnormal brain morphology	351	APP	ORPHA:324708
HP:0012443	Abnormal brain morphology	5116	PCNT	ORPHA:2637
HP:0012443	Abnormal brain morphology	9820	CUL7	ORPHA:2616
HP:0012443	Abnormal brain morphology	23363	OBSL1	ORPHA:2616
HP:0012443	Abnormal brain morphology	83987	CCDC8	ORPHA:2616
HP:0012443	Abnormal brain morphology	6804	STX1A	ORPHA:904
HP:0012443	Abnormal brain morphology	7461	CLIP2	ORPHA:904
HP:0012443	Abnormal brain morphology	84277	DNAJC30	ORPHA:904
HP:0012443	Abnormal brain morphology	8468	FKBP6	ORPHA:904
HP:0012443	Abnormal brain morphology	5982	RFC2	ORPHA:904
HP:0012443	Abnormal brain morphology	2969	GTF2I	ORPHA:904
HP:0012443	Abnormal brain morphology	3984	LIMK1	ORPHA:904
HP:0012443	Abnormal brain morphology	9569	GTF2IRD1	ORPHA:904
HP:0012443	Abnormal brain morphology	155382	VPS37D	ORPHA:904
HP:0012443	Abnormal brain morphology	155368	METTL27	ORPHA:904
HP:0012443	Abnormal brain morphology	114049	BUD23	ORPHA:904
HP:0012443	Abnormal brain morphology	7458	EIF4H	ORPHA:904
HP:0012443	Abnormal brain morphology	84163	GTF2IRD2	ORPHA:904
HP:0012443	Abnormal brain morphology	26608	TBL2	ORPHA:904
HP:0012443	Abnormal brain morphology	653361	NCF1	ORPHA:904
HP:0012443	Abnormal brain morphology	135886	TMEM270	ORPHA:904
HP:0012443	Abnormal brain morphology	9031	BAZ1B	ORPHA:904
HP:0012443	Abnormal brain morphology	2006	ELN	ORPHA:904
HP:0012443	Abnormal brain morphology	59	ACTA2	ORPHA:2573
HP:0012443	Abnormal brain morphology	57674	RNF213	ORPHA:2573
HP:0012443	Abnormal brain morphology	7486	WRN	ORPHA:902
HP:0012443	Abnormal brain morphology	5627	PROS1	ORPHA:743
HP:0012443	Abnormal brain morphology	5624	PROC	ORPHA:745
HP:0012443	Abnormal brain morphology	2776	GNAQ	ORPHA:3205
HP:0012443	Abnormal brain morphology	56922	MCCC1	ORPHA:6
HP:0012443	Abnormal brain morphology	64087	MCCC2	ORPHA:6
HP:0012443	Abnormal brain morphology	2982	GUCY1A1	ORPHA:401945
HP:0012443	Abnormal brain morphology	10019	SH2B3	ORPHA:3318
HP:0012443	Abnormal brain morphology	811	CALR	ORPHA:3318
HP:0012443	Abnormal brain morphology	7157	TP53	ORPHA:3318
HP:0012443	Abnormal brain morphology	4352	MPL	ORPHA:3318
HP:0012443	Abnormal brain morphology	3717	JAK2	ORPHA:3318
HP:0012443	Abnormal brain morphology	54790	TET2	ORPHA:3318
HP:0012443	Abnormal brain morphology	84168	ANTXR1	ORPHA:2067
HP:0012443	Abnormal brain morphology	2050	EPHB4	ORPHA:1053
HP:0012443	Abnormal brain morphology	5167	ENPP1	ORPHA:758
HP:0012443	Abnormal brain morphology	368	ABCC6	ORPHA:758
HP:0012443	Abnormal brain morphology	4000	LMNA	ORPHA:79474
HP:0012443	Abnormal brain morphology	326	AIRE	ORPHA:3453
HP:0012443	Abnormal brain morphology	79029	AFG2B	OMIM:619616
HP:0012443	Abnormal brain morphology	80055	PGAP1	OMIM:615802
HP:0012443	Abnormal brain morphology	54805	CNNM2	OMIM:616418
HP:0012443	Abnormal brain morphology	57094	CPA6	OMIM:614418
HP:0012443	Abnormal brain morphology	51704	GPRC5B	OMIM:620447
HP:0012443	Abnormal brain morphology	361	AQP4	OMIM:620448
HP:0012443	Abnormal brain morphology	57282	SLC4A10	OMIM:620746
HP:0012444	Brain atrophy	5274	SERPINI1	OMIM:604218
HP:0012444	Brain atrophy	10749	KIF1C	ORPHA:397946
HP:0012444	Brain atrophy	10749	KIF1C	OMIM:611302
HP:0012444	Brain atrophy	3064	HTT	ORPHA:399
HP:0012444	Brain atrophy	3064	HTT	OMIM:617435
HP:0012444	Brain atrophy	6515	SLC2A3	ORPHA:399
HP:0012444	Brain atrophy	1497	CTNS	OMIM:219800
HP:0012444	Brain atrophy	23394	ADNP	ORPHA:404448
HP:0012444	Brain atrophy	10617	STAMBP	OMIM:614261
HP:0012444	Brain atrophy	5723	PSPH	OMIM:614023
HP:0012444	Brain atrophy	2775	GNAO1	OMIM:615473
HP:0012444	Brain atrophy	2775	GNAO1	OMIM:617493
HP:0012444	Brain atrophy	51569	UFM1	OMIM:617899
HP:0012444	Brain atrophy	6873	TAF2	OMIM:615599
HP:0012444	Brain atrophy	6873	TAF2	ORPHA:397951
HP:0012444	Brain atrophy	10059	DNM1L	OMIM:614388
HP:0012444	Brain atrophy	60684	TRAPPC11	OMIM:615356
HP:0012444	Brain atrophy	60684	TRAPPC11	ORPHA:369847
HP:0012444	Brain atrophy	81857	MED25	OMIM:616449
HP:0012444	Brain atrophy	81857	MED25	ORPHA:464738
HP:0012444	Brain atrophy	2720	GLB1	OMIM:230600
HP:0012444	Brain atrophy	1786	DNMT1	ORPHA:314404
HP:0012444	Brain atrophy	1786	DNMT1	OMIM:614116
HP:0012444	Brain atrophy	57165	GJC2	OMIM:608804
HP:0012444	Brain atrophy	3074	HEXB	ORPHA:309162
HP:0012444	Brain atrophy	65267	WNK3	OMIM:309610
HP:0012444	Brain atrophy	101060691	NUTM2B-AS1	OMIM:618637
HP:0012444	Brain atrophy	1841	DTYMK	OMIM:619847
HP:0012444	Brain atrophy	375387	NRROS	OMIM:618875
HP:0012444	Brain atrophy	54982	CLN6	OMIM:204300
HP:0012444	Brain atrophy	5610	EIF2AK2	OMIM:618877
HP:0012444	Brain atrophy	55768	NGLY1	ORPHA:404454
HP:0012444	Brain atrophy	79693	YRDC	OMIM:619609
HP:0012444	Brain atrophy	23250	ATP11A	OMIM:619851
HP:0012444	Brain atrophy	7345	UCHL1	OMIM:615491
HP:0012444	Brain atrophy	5105	PCK1	OMIM:261680
HP:0012444	Brain atrophy	9698	PUM1	OMIM:620719
HP:0012444	Brain atrophy	7343	UBTF	OMIM:617672
HP:0012444	Brain atrophy	7343	UBTF	ORPHA:500180
HP:0012444	Brain atrophy	91869	RFT1	ORPHA:244310
HP:0012444	Brain atrophy	91869	RFT1	OMIM:612015
HP:0012444	Brain atrophy	6573	SLC19A1	OMIM:620603
HP:0012444	Brain atrophy	1716	DGUOK	OMIM:251880
HP:0012444	Brain atrophy	833	CARS1	OMIM:618891
HP:0012444	Brain atrophy	5833	PCYT2	OMIM:618770
HP:0012444	Brain atrophy	57178	ZMIZ1	OMIM:618659
HP:0012444	Brain atrophy	1201	CLN3	OMIM:204200
HP:0012444	Brain atrophy	26040	SETBP1	OMIM:269150
HP:0012444	Brain atrophy	9895	TECPR2	OMIM:615031
HP:0012444	Brain atrophy	9895	TECPR2	ORPHA:320385
HP:0012444	Brain atrophy	23126	POGZ	OMIM:616364
HP:0012444	Brain atrophy	54902	TTC19	OMIM:615157
HP:0012444	Brain atrophy	92609	TIMM50	OMIM:617698
HP:0012444	Brain atrophy	92609	TIMM50	ORPHA:505216
HP:0012444	Brain atrophy	51692	CPSF3	OMIM:619876
HP:0012444	Brain atrophy	285362	SUMF1	OMIM:272200
HP:0012444	Brain atrophy	56052	ALG1	ORPHA:79327
HP:0012444	Brain atrophy	56052	ALG1	OMIM:608540
HP:0012444	Brain atrophy	54828	BCAS3	OMIM:619641
HP:0012444	Brain atrophy	253959	RALGAPA1	OMIM:618797
HP:0012444	Brain atrophy	4076	CAPRIN1	OMIM:620636
HP:0012444	Brain atrophy	6621	SNAPC4	OMIM:620515
HP:0012444	Brain atrophy	10531	PITRM1	OMIM:619405
HP:0012444	Brain atrophy	256471	MFSD8	OMIM:610951
HP:0012444	Brain atrophy	2271	FH	OMIM:606812
HP:0012444	Brain atrophy	23556	PIGN	OMIM:614080
HP:0012444	Brain atrophy	55739	NAXD	OMIM:618321
HP:0012444	Brain atrophy	23162	MAPK8IP3	OMIM:618443
HP:0012444	Brain atrophy	5917	RARS1	OMIM:616140
HP:0012444	Brain atrophy	259232	NALCN	OMIM:616266
HP:0012444	Brain atrophy	339855	KY	ORPHA:496689
HP:0012444	Brain atrophy	3785	KCNQ2	ORPHA:439218
HP:0012444	Brain atrophy	3785	KCNQ2	ORPHA:293181
HP:0012444	Brain atrophy	29960	MRM2	OMIM:618567
HP:0012444	Brain atrophy	23189	KANK1	OMIM:612900
HP:0012444	Brain atrophy	2055	CLN8	ORPHA:1947
HP:0012444	Brain atrophy	2055	CLN8	OMIM:600143
HP:0012444	Brain atrophy	2055	CLN8	OMIM:610003
HP:0012444	Brain atrophy	8813	DPM1	ORPHA:79322
HP:0012444	Brain atrophy	26100	WIPI2	OMIM:618453
HP:0012444	Brain atrophy	10533	ATG7	OMIM:619422
HP:0012444	Brain atrophy	7040	TGFB1	OMIM:618213
HP:0012444	Brain atrophy	81570	CLPB	OMIM:616271
HP:0012444	Brain atrophy	81570	CLPB	ORPHA:445038
HP:0012444	Brain atrophy	51117	COQ4	OMIM:616276
HP:0012444	Brain atrophy	133686	NADK2	OMIM:616034
HP:0012444	Brain atrophy	51693	TRAPPC2L	OMIM:618331
HP:0012444	Brain atrophy	84188	FAR1	OMIM:616154
HP:0012444	Brain atrophy	27133	KCNH5	OMIM:620537
HP:0012444	Brain atrophy	27429	HTRA2	OMIM:617248
HP:0012444	Brain atrophy	58497	PRUNE1	ORPHA:544469
HP:0012444	Brain atrophy	51013	EXOSC1	OMIM:619304
HP:0012444	Brain atrophy	140679	SLC32A1	OMIM:620774
HP:0012444	Brain atrophy	5277	PIGA	OMIM:301072
HP:0012444	Brain atrophy	5277	PIGA	OMIM:300868
HP:0012444	Brain atrophy	5277	PIGA	ORPHA:293181
HP:0012444	Brain atrophy	9759	HDAC4	OMIM:619797
HP:0012444	Brain atrophy	23516	SLC39A14	OMIM:617013
HP:0012444	Brain atrophy	23516	SLC39A14	ORPHA:521406
HP:0012444	Brain atrophy	8506	CNTNAP1	OMIM:616286
HP:0012444	Brain atrophy	1317	SLC31A1	OMIM:620306
HP:0012444	Brain atrophy	9526	MPDU1	OMIM:609180
HP:0012444	Brain atrophy	4838	NODAL	OMIM:270100
HP:0012444	Brain atrophy	128869	PIGU	OMIM:618590
HP:0012444	Brain atrophy	10733	PLK4	OMIM:616171
HP:0012444	Brain atrophy	7084	TK2	ORPHA:254886
HP:0012444	Brain atrophy	7084	TK2	OMIM:609560
HP:0012444	Brain atrophy	5428	POLG	ORPHA:254886
HP:0012444	Brain atrophy	5428	POLG	OMIM:203700
HP:0012444	Brain atrophy	4695	NDUFA2	OMIM:618235
HP:0012444	Brain atrophy	57520	HECW2	OMIM:617268
HP:0012444	Brain atrophy	112939	NACC1	ORPHA:500545
HP:0012444	Brain atrophy	112939	NACC1	OMIM:617393
HP:0012444	Brain atrophy	11152	WDR45	ORPHA:329284
HP:0012444	Brain atrophy	11152	WDR45	OMIM:300894
HP:0012444	Brain atrophy	25885	POLR1A	OMIM:620675
HP:0012444	Brain atrophy	1760	DMPK	OMIM:160900
HP:0012444	Brain atrophy	154881	KCTD7	OMIM:611726
HP:0012444	Brain atrophy	154881	KCTD7	ORPHA:263516
HP:0012444	Brain atrophy	5934	RBL2	OMIM:619690
HP:0012444	Brain atrophy	79709	COLGALT1	OMIM:618360
HP:0012444	Brain atrophy	5071	PRKN	OMIM:600116
HP:0012444	Brain atrophy	4784	NFIX	OMIM:602535
HP:0012444	Brain atrophy	4784	NFIX	ORPHA:447980
HP:0012444	Brain atrophy	84340	GFM2	ORPHA:565624
HP:0012444	Brain atrophy	84340	GFM2	OMIM:618397
HP:0012444	Brain atrophy	4704	NDUFA9	OMIM:618247
HP:0012444	Brain atrophy	79641	ROGDI	OMIM:226750
HP:0012444	Brain atrophy	6601	SMARCC2	OMIM:618362
HP:0012444	Brain atrophy	8260	NAA10	OMIM:300855
HP:0012444	Brain atrophy	8260	NAA10	ORPHA:276432
HP:0012444	Brain atrophy	7965	AIMP2	OMIM:618006
HP:0012444	Brain atrophy	549	AUH	OMIM:250950
HP:0012444	Brain atrophy	56652	TWNK	OMIM:609286
HP:0012444	Brain atrophy	6821	SUOX	OMIM:272300
HP:0012444	Brain atrophy	1781	DYNC1I2	OMIM:618492
HP:0012444	Brain atrophy	5611	DNAJC3	OMIM:616192
HP:0012444	Brain atrophy	5611	DNAJC3	ORPHA:445062
HP:0012444	Brain atrophy	127833	SYT2	OMIM:619461
HP:0012444	Brain atrophy	8802	SUCLG1	ORPHA:17
HP:0012444	Brain atrophy	8802	SUCLG1	OMIM:245400
HP:0012444	Brain atrophy	4714	NDUFB8	OMIM:618252
HP:0012444	Brain atrophy	1822	ATN1	OMIM:618494
HP:0012444	Brain atrophy	4761	NEUROD2	OMIM:618374
HP:0012444	Brain atrophy	84896	ATAD1	OMIM:618011
HP:0012444	Brain atrophy	220296	HEPACAM	OMIM:613925
HP:0012444	Brain atrophy	4548	MTR	OMIM:250940
HP:0012444	Brain atrophy	3028	HSD17B10	ORPHA:391428
HP:0012444	Brain atrophy	83480	PUS3	OMIM:617051
HP:0012444	Brain atrophy	8943	AP3D1	OMIM:617050
HP:0012444	Brain atrophy	80347	COASY	OMIM:618266
HP:0012444	Brain atrophy	57498	KIDINS220	OMIM:617296
HP:0012444	Brain atrophy	3975	LHX1	ORPHA:261265
HP:0012444	Brain atrophy	6928	HNF1B	ORPHA:261265
HP:0012444	Brain atrophy	57003	CCDC47	OMIM:618268
HP:0012444	Brain atrophy	51095	TRNT1	OMIM:616084
HP:0012444	Brain atrophy	94005	PIGS	OMIM:618143
HP:0012444	Brain atrophy	145173	B3GLCT	OMIM:261540
HP:0012444	Brain atrophy	51091	SEPSECS	OMIM:613811
HP:0012444	Brain atrophy	2571	GAD1	OMIM:619124
HP:0012444	Brain atrophy	90522	YIF1B	OMIM:619125
HP:0012444	Brain atrophy	2760	GM2A	ORPHA:309246
HP:0012444	Brain atrophy	2760	GM2A	OMIM:272750
HP:0012444	Brain atrophy	440138	ALG11	ORPHA:280071
HP:0012444	Brain atrophy	51715	RAB23	OMIM:201000
HP:0012444	Brain atrophy	91875	TTC5	OMIM:619244
HP:0012444	Brain atrophy	1200	TPP1	OMIM:204500
HP:0012444	Brain atrophy	57704	GBA2	ORPHA:320391
HP:0012444	Brain atrophy	57704	GBA2	OMIM:614409
HP:0012444	Brain atrophy	57704	GBA2	ORPHA:352641
HP:0012444	Brain atrophy	6663	SOX10	OMIM:609136
HP:0012444	Brain atrophy	10084	PQBP1	OMIM:309500
HP:0012444	Brain atrophy	84231	TRAF7	OMIM:618164
HP:0012444	Brain atrophy	2733	GLE1	OMIM:611890
HP:0012444	Brain atrophy	9487	PIGL	OMIM:280000
HP:0012444	Brain atrophy	727676	SNORD118	ORPHA:542310
HP:0012444	Brain atrophy	54187	NANS	OMIM:610442
HP:0012444	Brain atrophy	1719	DHFR	OMIM:613839
HP:0012444	Brain atrophy	4668	NAGA	OMIM:609242
HP:0012444	Brain atrophy	54936	ADPRS	OMIM:618170
HP:0012444	Brain atrophy	2629	GBA1	OMIM:230900
HP:0012444	Brain atrophy	27445	PCLO	OMIM:608027
HP:0012444	Brain atrophy	4702	NDUFA8	OMIM:619272
HP:0012444	Brain atrophy	27183	VPS4A	OMIM:619273
HP:0012444	Brain atrophy	158	ADSL	OMIM:103050
HP:0012444	Brain atrophy	199857	ALG14	OMIM:619036
HP:0012444	Brain atrophy	1183	CLCN4	OMIM:300114
HP:0012444	Brain atrophy	51102	MECR	ORPHA:508093
HP:0012444	Brain atrophy	5393	EXOSC9	OMIM:618065
HP:0012444	Brain atrophy	7355	SLC35A2	ORPHA:356961
HP:0012444	Brain atrophy	7355	SLC35A2	OMIM:300896
HP:0012444	Brain atrophy	347734	SLC35B2	OMIM:620269
HP:0012444	Brain atrophy	57468	SLC12A5	ORPHA:293181
HP:0012444	Brain atrophy	57468	SLC12A5	OMIM:616645
HP:0012444	Brain atrophy	23236	PLCB1	ORPHA:293181
HP:0012444	Brain atrophy	57465	TBC1D24	ORPHA:293181
HP:0012444	Brain atrophy	57465	TBC1D24	OMIM:220500
HP:0012444	Brain atrophy	57465	TBC1D24	OMIM:615338
HP:0012444	Brain atrophy	10667	FARS2	OMIM:614946
HP:0012444	Brain atrophy	80222	TARS2	OMIM:615918
HP:0012444	Brain atrophy	64324	NSD1	ORPHA:821
HP:0012444	Brain atrophy	10297	APC2	ORPHA:821
HP:0012444	Brain atrophy	162	AP1B1	OMIM:242150
HP:0012444	Brain atrophy	9442	MED27	OMIM:619286
HP:0012444	Brain atrophy	80055	PGAP1	OMIM:615802
HP:0012444	Brain atrophy	54476	RNF216	OMIM:212840
HP:0012444	Brain atrophy	26580	BSCL2	OMIM:615924
HP:0012444	Brain atrophy	26580	BSCL2	ORPHA:363400
HP:0012444	Brain atrophy	26153	KIF26A	OMIM:620156
HP:0012444	Brain atrophy	51324	SPG21	OMIM:248900
HP:0012444	Brain atrophy	64207	IRF2BPL	OMIM:618088
HP:0012444	Brain atrophy	55037	PTCD3	OMIM:619057
HP:0012444	Brain atrophy	55157	DARS2	ORPHA:137898
HP:0012444	Brain atrophy	2260	FGFR1	ORPHA:2396
HP:0012444	Brain atrophy	3845	KRAS	ORPHA:2396
HP:0012444	Brain atrophy	114034	TOE1	OMIM:614969
HP:0012444	Brain atrophy	1509	CTSD	OMIM:610127
HP:0012444	Brain atrophy	7841	MOGS	OMIM:606056
HP:0012444	Brain atrophy	8772	FADD	OMIM:613759
HP:0012444	Brain atrophy	8772	FADD	ORPHA:306550
HP:0012444	Brain atrophy	54675	CRLS1	OMIM:620167
HP:0012444	Brain atrophy	5095	PCCA	OMIM:606054
HP:0012444	Brain atrophy	5096	PCCB	OMIM:606054
HP:0012444	Brain atrophy	57531	HACE1	ORPHA:464282
HP:0012444	Brain atrophy	57531	HACE1	OMIM:616756
HP:0012444	Brain atrophy	7466	WFS1	OMIM:222300
HP:0012444	Brain atrophy	1327	COX4I1	OMIM:619060
HP:0012444	Brain atrophy	4338	MOCS2	OMIM:252160
HP:0012444	Brain atrophy	4598	MVK	OMIM:610377
HP:0012444	Brain atrophy	54872	PIGG	OMIM:616917
HP:0012444	Brain atrophy	3265	HRAS	OMIM:218040
HP:0012444	Brain atrophy	5826	ABCD4	OMIM:614857
HP:0012444	Brain atrophy	10056	FARSB	OMIM:613658
HP:0012444	Brain atrophy	5521	PPP2R2B	ORPHA:98762
HP:0012444	Brain atrophy	1654	DDX3X	ORPHA:3338
HP:0012444	Brain atrophy	8481	OFD1	OMIM:311200
HP:0012444	Brain atrophy	55343	SLC35C1	ORPHA:99843
HP:0012444	Brain atrophy	26047	CNTNAP2	OMIM:610042
HP:0012444	Brain atrophy	55275	VPS53	OMIM:615851
HP:0012444	Brain atrophy	5824	PEX19	OMIM:614886
HP:0012444	Brain atrophy	85021	REPS1	OMIM:617916
HP:0012444	Brain atrophy	6314	ATXN7	ORPHA:94147
HP:0012444	Brain atrophy	10159	ATP6AP2	OMIM:300423
HP:0012444	Brain atrophy	57017	COQ9	OMIM:614654
HP:0012444	Brain atrophy	22907	DHX30	OMIM:617804
HP:0012444	Brain atrophy	10664	CTCF	OMIM:615502
HP:0012444	Brain atrophy	26123	TCTN3	OMIM:258860
HP:0012444	Brain atrophy	10075	HUWE1	OMIM:309590
HP:0012444	Brain atrophy	7167	TPI1	OMIM:615512
HP:0012444	Brain atrophy	64116	SLC39A8	OMIM:616721
HP:0012444	Brain atrophy	132	ADK	OMIM:614300
HP:0012444	Brain atrophy	6513	SLC2A1	OMIM:612126
HP:0012444	Brain atrophy	53616	ADAM22	OMIM:617933
HP:0012444	Brain atrophy	546	ATRX	OMIM:301040
HP:0012444	Brain atrophy	8050	PDHX	ORPHA:255182
HP:0012444	Brain atrophy	2258	FGF13	OMIM:301058
HP:0012444	Brain atrophy	9150	CTDP1	OMIM:604168
HP:0012444	Brain atrophy	9131	AIFM1	ORPHA:83629
HP:0012444	Brain atrophy	5859	QARS1	OMIM:615760
HP:0012444	Brain atrophy	5160	PDHA1	OMIM:312170
HP:0012444	Brain atrophy	5160	PDHA1	ORPHA:79243
HP:0012444	Brain atrophy	1806	DPYD	OMIM:274270
HP:0012444	Brain atrophy	1806	DPYD	ORPHA:1675
HP:0012444	Brain atrophy	51010	EXOSC3	OMIM:614678
HP:0012444	Brain atrophy	54822	TRPM7	OMIM:105500
HP:0012444	Brain atrophy	2891	GRIA2	OMIM:618917
HP:0012444	Brain atrophy	23732	FRRS1L	OMIM:616981
HP:0012444	Brain atrophy	6709	SPTAN1	OMIM:613477
HP:0012444	Brain atrophy	2058	EPRS1	OMIM:617951
HP:0012444	Brain atrophy	80746	TSEN2	OMIM:612389
HP:0012444	Brain atrophy	2917	GRM7	OMIM:618922
HP:0012444	Brain atrophy	29940	DSE	OMIM:615539
HP:0012444	Brain atrophy	9361	LONP1	ORPHA:79243
HP:0012444	Brain atrophy	5422	POLA1	OMIM:301030
HP:0012444	Brain atrophy	57511	COG6	OMIM:614576
HP:0012444	Brain atrophy	175	AGA	OMIM:208400
HP:0012444	Brain atrophy	25839	COG4	OMIM:613489
HP:0012444	Brain atrophy	55644	OSGEP	OMIM:617729
HP:0012444	Brain atrophy	57572	DOCK6	OMIM:614219
HP:0012444	Brain atrophy	2313	FLI1	ORPHA:2308
HP:0012444	Brain atrophy	112858	TP53RK	OMIM:617730
HP:0012444	Brain atrophy	11019	LIAS	OMIM:614462
HP:0012444	Brain atrophy	8270	LAGE3	OMIM:301006
HP:0012444	Brain atrophy	6812	STXBP1	OMIM:612164
HP:0012444	Brain atrophy	2517	FUCA1	OMIM:230000
HP:0012444	Brain atrophy	4337	MOCS1	OMIM:252150
HP:0012444	Brain atrophy	23040	MYT1L	OMIM:616521
HP:0012444	Brain atrophy	25914	RTTN	ORPHA:468631
HP:0012444	Brain atrophy	203228	C9orf72	OMIM:105550
HP:0012444	Brain atrophy	80781	COL18A1	OMIM:267750
HP:0012444	Brain atrophy	617	BCS1L	OMIM:124000
HP:0012444	Brain atrophy	4094	MAF	OMIM:601088
HP:0012444	Brain atrophy	95	ACY1	OMIM:609924
HP:0012444	Brain atrophy	54802	TRIT1	OMIM:617873
HP:0012444	Brain atrophy	26503	SLC17A5	OMIM:269920
HP:0012444	Brain atrophy	9197	SLC33A1	OMIM:614482
HP:0012444	Brain atrophy	200205	IBA57	OMIM:615330
HP:0012444	Brain atrophy	5538	PPT1	OMIM:256730
HP:0012444	Brain atrophy	2806	GOT2	OMIM:618721
HP:0012444	Brain atrophy	25974	MMACHC	ORPHA:79282
HP:0012444	Brain atrophy	3778	KCNMA1	OMIM:618729
HP:0012444	Brain atrophy	2639	GCDH	OMIM:231670
HP:0012444	Brain atrophy	4204	MECP2	ORPHA:209370
HP:0012444	Brain atrophy	51075	TMX2	OMIM:618730
HP:0012444	Brain atrophy	8884	SLC5A6	OMIM:618973
HP:0012444	Brain atrophy	7305	TYROBP	OMIM:221770
HP:0012444	Brain atrophy	55331	ACER3	OMIM:617762
HP:0012444	Brain atrophy	2902	GRIN1	OMIM:614254
HP:0012444	Brain atrophy	22978	NT5C2	OMIM:613162
HP:0012444	Brain atrophy	92935	MARS2	OMIM:616430
HP:0012444	Brain atrophy	7543	ZFX	OMIM:301118
HP:0012444	Brain atrophy	85378	TUBGCP6	OMIM:251270
HP:0012444	Brain atrophy	547	KIF1A	OMIM:614255
HP:0012444	Brain atrophy	55753	OGDHL	OMIM:619701
HP:0012444	Brain atrophy	22868	FASTKD2	OMIM:618855
HP:0012444	Brain atrophy	25792	CIZ1	ORPHA:420492
HP:0012444	Brain atrophy	673	BRAF	OMIM:115150
HP:0012444	Brain atrophy	673	BRAF	ORPHA:1340
HP:0012444	Brain atrophy	54820	NDE1	ORPHA:2177
HP:0012444	Brain atrophy	7360	UGP2	OMIM:618744
HP:0012444	Brain atrophy	5457	POU4F1	ORPHA:314647
HP:0012444	Brain atrophy	23261	CAMTA1	ORPHA:314647
HP:0012444	Brain atrophy	23261	CAMTA1	OMIM:614756
HP:0012444	Brain atrophy	8496	PPFIBP1	OMIM:620024
HP:0012444	Brain atrophy	51816	ADA2	ORPHA:820
HP:0012444	Brain atrophy	6687	SPG7	ORPHA:99013
HP:0012444	Brain atrophy	6687	SPG7	OMIM:607259
HP:0012444	Brain atrophy	51112	TRAPPC12	ORPHA:500144
HP:0012444	Brain atrophy	51112	TRAPPC12	OMIM:617669
HP:0012444	Brain atrophy	54968	TMEM70	ORPHA:1194
HP:0012444	Brain atrophy	3020	H3-3A	OMIM:619720
HP:0012444	Brain atrophy	8722	CTSF	OMIM:615362
HP:0012444	Brain atrophy	387787	LIPT2	OMIM:617668
HP:0012444	Brain atrophy	84520	GON7	OMIM:619603
HP:0012444	Brain atrophy	23431	AP4E1	OMIM:613744
HP:0012444	Brain atrophy	23431	AP4E1	ORPHA:280763
HP:0012444	Brain atrophy	10978	CLP1	OMIM:615803
HP:0012444	Brain atrophy	79158	GNPTAB	OMIM:252500
HP:0012444	Brain atrophy	271	AMPD2	OMIM:615809
HP:0012444	Brain atrophy	5189	PEX1	OMIM:214100
HP:0012444	Brain atrophy	55650	PIGV	OMIM:239300
HP:0012444	Brain atrophy	2192	FBLN1	ORPHA:404451
HP:0012444	Brain atrophy	348	APOE	OMIM:607822
HP:0012444	Brain atrophy	4509	MT-ATP8	ORPHA:254913
HP:0012444	Brain atrophy	514	ATP5F1E	ORPHA:254913
HP:0012444	Brain atrophy	513	ATP5F1D	ORPHA:254913
HP:0012444	Brain atrophy	498	ATP5F1A	ORPHA:254913
HP:0012444	Brain atrophy	84833	ATP5MK	ORPHA:254913
HP:0012444	Brain atrophy	91647	ATPAF2	ORPHA:254913
HP:0012444	Brain atrophy	9326	ZNHIT3	ORPHA:2836
HP:0012444	Brain atrophy	6496	SIX3	OMIM:269160
HP:0012444	Brain atrophy	2018	EMX2	OMIM:269160
HP:0012444	Brain atrophy	5191	PEX7	OMIM:215100
HP:0012444	Brain atrophy	2332	FMR1	ORPHA:93256
HP:0012444	Brain atrophy	2332	FMR1	ORPHA:908
HP:0012444	Brain atrophy	23400	ATP13A2	ORPHA:513436
HP:0012444	Brain atrophy	23400	ATP13A2	ORPHA:306674
HP:0012444	Brain atrophy	23400	ATP13A2	OMIM:617225
HP:0012444	Brain atrophy	652	BMP4	OMIM:607932
HP:0012444	Brain atrophy	57231	SNX14	OMIM:616354
HP:0012444	Brain atrophy	10347	ABCA7	OMIM:608907
HP:0012444	Brain atrophy	10347	ABCA7	ORPHA:1020
HP:0012444	Brain atrophy	246243	RNASEH1	OMIM:616479
HP:0012444	Brain atrophy	80208	SPG11	ORPHA:2822
HP:0012444	Brain atrophy	80208	SPG11	OMIM:604360
HP:0012444	Brain atrophy	23230	VPS13A	ORPHA:2388
HP:0012444	Brain atrophy	4582	MUC1	OMIM:174000
HP:0012444	Brain atrophy	57338	JPH3	ORPHA:98934
HP:0012444	Brain atrophy	57338	JPH3	OMIM:606438
HP:0012444	Brain atrophy	23265	EXOC7	OMIM:619072
HP:0012444	Brain atrophy	699	BUB1	OMIM:620183
HP:0012444	Brain atrophy	55699	IARS2	OMIM:616007
HP:0012444	Brain atrophy	6804	STX1A	ORPHA:904
HP:0012444	Brain atrophy	7461	CLIP2	ORPHA:904
HP:0012444	Brain atrophy	84277	DNAJC30	ORPHA:904
HP:0012444	Brain atrophy	8468	FKBP6	ORPHA:904
HP:0012444	Brain atrophy	5982	RFC2	ORPHA:904
HP:0012444	Brain atrophy	2969	GTF2I	ORPHA:904
HP:0012444	Brain atrophy	3984	LIMK1	ORPHA:904
HP:0012444	Brain atrophy	9569	GTF2IRD1	ORPHA:904
HP:0012444	Brain atrophy	155382	VPS37D	ORPHA:904
HP:0012444	Brain atrophy	155368	METTL27	ORPHA:904
HP:0012444	Brain atrophy	114049	BUD23	ORPHA:904
HP:0012444	Brain atrophy	7458	EIF4H	ORPHA:904
HP:0012444	Brain atrophy	84163	GTF2IRD2	ORPHA:904
HP:0012444	Brain atrophy	26608	TBL2	ORPHA:904
HP:0012444	Brain atrophy	653361	NCF1	ORPHA:904
HP:0012444	Brain atrophy	135886	TMEM270	ORPHA:904
HP:0012444	Brain atrophy	9031	BAZ1B	ORPHA:904
HP:0012444	Brain atrophy	2006	ELN	ORPHA:904
HP:0012444	Brain atrophy	11340	EXOSC8	ORPHA:2254
HP:0012444	Brain atrophy	11340	EXOSC8	OMIM:616081
HP:0012444	Brain atrophy	7443	VRK1	ORPHA:2254
HP:0012444	Brain atrophy	7443	VRK1	OMIM:607596
HP:0012444	Brain atrophy	91137	SLC25A46	ORPHA:2254
HP:0012444	Brain atrophy	5590	PRKCZ	ORPHA:1606
HP:0012444	Brain atrophy	2563	GABRD	ORPHA:1606
HP:0012444	Brain atrophy	23013	SPEN	ORPHA:1606
HP:0012444	Brain atrophy	8510	MMP23B	ORPHA:1606
HP:0012444	Brain atrophy	7798	LUZP1	ORPHA:1606
HP:0012444	Brain atrophy	6497	SKI	ORPHA:1606
HP:0012444	Brain atrophy	10630	PDPN	ORPHA:1606
HP:0012444	Brain atrophy	3339	HSPG2	ORPHA:1606
HP:0012444	Brain atrophy	10277	UBE4B	ORPHA:1606
HP:0012444	Brain atrophy	8514	KCNAB2	ORPHA:1606
HP:0012444	Brain atrophy	473	RERE	ORPHA:1606
HP:0012444	Brain atrophy	63976	PRDM16	ORPHA:1606
HP:0012444	Brain atrophy	54897	CASZ1	ORPHA:1606
HP:0012444	Brain atrophy	493856	CISD2	ORPHA:3463
HP:0012444	Brain atrophy	7337	UBE3A	OMIM:105830
HP:0012444	Brain atrophy	6638	SNRPN	OMIM:105830
HP:0012444	Brain atrophy	6638	SNRPN	ORPHA:177907
HP:0012444	Brain atrophy	1859	DYRK1A	ORPHA:464311
HP:0012444	Brain atrophy	1859	DYRK1A	ORPHA:268261
HP:0012444	Brain atrophy	1859	DYRK1A	OMIM:614104
HP:0012444	Brain atrophy	11128	POLR3A	ORPHA:447896
HP:0012444	Brain atrophy	11128	POLR3A	OMIM:607694
HP:0012444	Brain atrophy	8517	IKBKG	ORPHA:464
HP:0012444	Brain atrophy	51633	OTUD6B	ORPHA:505237
HP:0012444	Brain atrophy	56098	PCDHGC4	OMIM:619880
HP:0012444	Brain atrophy	54499	TMCO1	ORPHA:1394
HP:0012444	Brain atrophy	9562	MINPP1	OMIM:619527
HP:0012444	Brain atrophy	6311	ATXN2	ORPHA:98756
HP:0012444	Brain atrophy	8573	CASK	ORPHA:163937
HP:0012444	Brain atrophy	54941	RNF125	OMIM:616260
HP:0012444	Brain atrophy	25836	NIPBL	OMIM:122470
HP:0012444	Brain atrophy	25836	NIPBL	ORPHA:199
HP:0012444	Brain atrophy	283989	TSEN54	OMIM:277470
HP:0012444	Brain atrophy	5664	PSEN2	ORPHA:1020
HP:0012444	Brain atrophy	10452	TOMM40	ORPHA:1020
HP:0012444	Brain atrophy	351	APP	ORPHA:1020
HP:0012444	Brain atrophy	6653	SORL1	ORPHA:1020
HP:0012444	Brain atrophy	404672	GTF2H5	ORPHA:33364
HP:0012444	Brain atrophy	2068	ERCC2	ORPHA:33364
HP:0012444	Brain atrophy	2068	ERCC2	ORPHA:910
HP:0012444	Brain atrophy	2068	ERCC2	ORPHA:1466
HP:0012444	Brain atrophy	136647	MPLKIP	ORPHA:33364
HP:0012444	Brain atrophy	136647	MPLKIP	OMIM:234050
HP:0012444	Brain atrophy	6897	TARS1	ORPHA:33364
HP:0012444	Brain atrophy	2071	ERCC3	ORPHA:33364
HP:0012444	Brain atrophy	2071	ERCC3	ORPHA:910
HP:0012444	Brain atrophy	2961	GTF2E2	ORPHA:33364
HP:0012444	Brain atrophy	51750	RTEL1	ORPHA:3322
HP:0012444	Brain atrophy	65057	ACD	ORPHA:3322
HP:0012444	Brain atrophy	5073	PARN	ORPHA:3322
HP:0012444	Brain atrophy	7015	TERT	ORPHA:3322
HP:0012444	Brain atrophy	26277	TINF2	ORPHA:3322
HP:0012444	Brain atrophy	1736	DKC1	ORPHA:3322
HP:0012444	Brain atrophy	79053	ALG8	ORPHA:79325
HP:0012444	Brain atrophy	2776	GNAQ	ORPHA:3205
HP:0012444	Brain atrophy	2776	GNAQ	OMIM:185300
HP:0012444	Brain atrophy	8295	TRRAP	OMIM:618454
HP:0012444	Brain atrophy	2583	B4GALNT1	OMIM:609195
HP:0012444	Brain atrophy	2583	B4GALNT1	ORPHA:101006
HP:0012444	Brain atrophy	11232	POLG2	OMIM:619425
HP:0012444	Brain atrophy	57724	EPG5	ORPHA:1493
HP:0012444	Brain atrophy	81603	TRIM8	OMIM:619428
HP:0012444	Brain atrophy	7507	XPA	ORPHA:910
HP:0012444	Brain atrophy	7508	XPC	ORPHA:910
HP:0012444	Brain atrophy	1643	DDB2	ORPHA:910
HP:0012444	Brain atrophy	2073	ERCC5	ORPHA:910
HP:0012444	Brain atrophy	2073	ERCC5	ORPHA:1466
HP:0012444	Brain atrophy	55703	POLR3B	OMIM:607694
HP:0012444	Brain atrophy	27238	GPKOW	ORPHA:2570
HP:0012444	Brain atrophy	8925	HERC1	OMIM:617011
HP:0012444	Brain atrophy	8925	HERC1	ORPHA:457359
HP:0012444	Brain atrophy	54832	VPS13C	OMIM:616840
HP:0012444	Brain atrophy	57679	ALS2	OMIM:606353
HP:0012444	Brain atrophy	27249	MMADHC	OMIM:277410
HP:0012444	Brain atrophy	55630	SLC39A4	ORPHA:37
HP:0012444	Brain atrophy	116461	TSEN15	OMIM:617026
HP:0012444	Brain atrophy	8085	KMT2D	ORPHA:2322
HP:0012444	Brain atrophy	7403	KDM6A	ORPHA:2322
HP:0012444	Brain atrophy	998	CDC42	OMIM:616737
HP:0012444	Brain atrophy	50	ACO2	OMIM:614559
HP:0012444	Brain atrophy	10166	SLC25A15	ORPHA:415
HP:0012444	Brain atrophy	10166	SLC25A15	OMIM:238970
HP:0012444	Brain atrophy	6904	TBCD	ORPHA:496641
HP:0012444	Brain atrophy	29925	GMPPB	ORPHA:370968
HP:0012444	Brain atrophy	79147	FKRP	ORPHA:370968
HP:0012444	Brain atrophy	29954	POMT2	ORPHA:370968
HP:0012444	Brain atrophy	29954	POMT2	OMIM:613156
HP:0012444	Brain atrophy	9215	LARGE1	ORPHA:370968
HP:0012444	Brain atrophy	10585	POMT1	ORPHA:370968
HP:0012444	Brain atrophy	56915	EXOSC5	OMIM:619576
HP:0012444	Brain atrophy	23221	RHOBTB2	OMIM:618004
HP:0012444	Brain atrophy	2067	ERCC1	ORPHA:1466
HP:0012444	Brain atrophy	54834	GDAP2	OMIM:618369
HP:0012444	Brain atrophy	23317	DNAJC13	ORPHA:411602
HP:0012444	Brain atrophy	1981	EIF4G1	ORPHA:411602
HP:0012444	Brain atrophy	55737	VPS35	ORPHA:411602
HP:0012444	Brain atrophy	120892	LRRK2	ORPHA:411602
HP:0012444	Brain atrophy	26058	GIGYF2	ORPHA:411602
HP:0012444	Brain atrophy	5604	MAP2K1	ORPHA:1340
HP:0012444	Brain atrophy	5605	MAP2K2	ORPHA:1340
HP:0012444	Brain atrophy	51608	GET4	OMIM:620200
HP:0012444	Brain atrophy	100506658	OCLN	ORPHA:1229
HP:0012444	Brain atrophy	9758	FRMPD4	OMIM:300983
HP:0012444	Brain atrophy	83696	TRAPPC9	ORPHA:352530
HP:0012444	Brain atrophy	128637	TBC1D20	OMIM:615663
HP:0012444	Brain atrophy	128637	TBC1D20	ORPHA:2510
HP:0012444	Brain atrophy	23476	BRD4	ORPHA:199
HP:0012444	Brain atrophy	9126	SMC3	ORPHA:199
HP:0012444	Brain atrophy	8243	SMC1A	ORPHA:199
HP:0012444	Brain atrophy	6878	TAF6	ORPHA:199
HP:0012444	Brain atrophy	55869	HDAC8	ORPHA:199
HP:0012444	Brain atrophy	5885	RAD21	ORPHA:199
HP:0012444	Brain atrophy	9791	PTDSS1	OMIM:151050
HP:0012444	Brain atrophy	6197	RPS6KA3	ORPHA:192
HP:0012444	Brain atrophy	10815	CPLX1	OMIM:617976
HP:0012444	Brain atrophy	22931	RAB18	OMIM:614222
HP:0012444	Brain atrophy	22931	RAB18	ORPHA:2510
HP:0012444	Brain atrophy	10283	CWC27	OMIM:250410
HP:0012444	Brain atrophy	10283	CWC27	ORPHA:166035
HP:0012444	Brain atrophy	8905	AP1S2	ORPHA:1568
HP:0012444	Brain atrophy	60558	GUF1	OMIM:617065
HP:0012444	Brain atrophy	122553	TRAPPC6B	OMIM:617862
HP:0012444	Brain atrophy	57688	ZSWIM6	OMIM:617865
HP:0012444	Brain atrophy	2893	GRIA4	OMIM:617864
HP:0012444	Brain atrophy	55164	SHQ1	OMIM:619922
HP:0012444	Brain atrophy	3090	HIC1	ORPHA:531
HP:0012444	Brain atrophy	5048	PAFAH1B1	ORPHA:531
HP:0012444	Brain atrophy	7531	YWHAE	ORPHA:531
HP:0012444	Brain atrophy	10717	AP4B1	ORPHA:280763
HP:0012444	Brain atrophy	9179	AP4M1	ORPHA:280763
HP:0012444	Brain atrophy	11154	AP4S1	ORPHA:280763
HP:0012444	Brain atrophy	340533	NEXMIF	ORPHA:85277
HP:0012444	Brain atrophy	10479	SLC9A6	ORPHA:85278
HP:0012444	Brain atrophy	1203	CLN5	OMIM:256731
HP:0012444	Brain atrophy	27229	TUBGCP4	ORPHA:2518
HP:0012444	Brain atrophy	55005	RMND1	OMIM:614922
HP:0012444	Brain atrophy	4693	NDP	ORPHA:649
HP:0012444	Brain atrophy	23299	BICD2	OMIM:618291
HP:0012444	Brain atrophy	23404	EXOSC2	OMIM:617763
HP:0012444	Brain atrophy	221692	PHACTR1	OMIM:618298
HP:0012444	Brain atrophy	4858	NOVA2	OMIM:618859
HP:0012444	Brain atrophy	9373	PLAA	OMIM:617527
HP:0012444	Brain atrophy	5052	PRDX1	OMIM:277400
HP:0012444	Brain atrophy	267010	RNU12	ORPHA:512260
HP:0012444	Brain atrophy	435	ASL	ORPHA:23
HP:0012444	Brain atrophy	5621	PRNP	ORPHA:282166
HP:0012444	Brain atrophy	5621	PRNP	OMIM:603218
HP:0012444	Brain atrophy	1798	DPAGT1	ORPHA:86309
HP:0012444	Brain atrophy	26235	FBXL4	OMIM:615471
HP:0012444	Brain atrophy	7737	RNF113A	OMIM:300953
HP:0012444	Brain atrophy	51604	PIGT	ORPHA:369837
HP:0012444	Brain atrophy	1593	CYP27A1	ORPHA:909
HP:0012444	Brain atrophy	25782	RAB3GAP2	OMIM:614225
HP:0012444	Brain atrophy	9255	AIMP1	OMIM:260600
HP:0012444	Brain atrophy	85476	GFM1	OMIM:609060
HP:0012444	Brain atrophy	285175	UNC80	OMIM:616801
HP:0012444	Brain atrophy	8021	NUP214	OMIM:618426
HP:0012444	Brain atrophy	90624	LYRM7	OMIM:615838
HP:0012444	Brain atrophy	11267	SNF8	OMIM:620784
HP:0012444	Brain atrophy	11267	SNF8	OMIM:620783
HP:0012444	Brain atrophy	55775	TDP1	ORPHA:94124
HP:0012444	Brain atrophy	79796	ALG9	OMIM:608776
HP:0012444	Brain atrophy	2521	FUS	ORPHA:275872
HP:0012444	Brain atrophy	8878	SQSTM1	ORPHA:275872
HP:0012444	Brain atrophy	23435	TARDBP	ORPHA:275872
HP:0012444	Brain atrophy	400916	CHCHD10	ORPHA:275872
HP:0012444	Brain atrophy	6335	SCN9A	ORPHA:33069
HP:0012444	Brain atrophy	6326	SCN2A	ORPHA:33069
HP:0012444	Brain atrophy	6326	SCN2A	OMIM:613721
HP:0012444	Brain atrophy	2554	GABRA1	ORPHA:33069
HP:0012444	Brain atrophy	6324	SCN1B	ORPHA:33069
HP:0012444	Brain atrophy	57526	PCDH19	ORPHA:33069
HP:0012444	Brain atrophy	1528	CYB5A	ORPHA:621
HP:0012444	Brain atrophy	1727	CYB5R3	ORPHA:621
HP:0012444	Brain atrophy	170302	ARX	OMIM:308350
HP:0012444	Brain atrophy	83475	DOHH	OMIM:620066
HP:0012444	Brain atrophy	80025	PANK2	OMIM:234200
HP:0012444	Brain atrophy	55593	OTUD5	OMIM:301056
HP:0012444	Brain atrophy	25828	TXN2	ORPHA:478029
HP:0012444	Brain atrophy	25828	TXN2	OMIM:616811
HP:0012444	Brain atrophy	23287	AGTPBP1	OMIM:618276
HP:0012444	Brain atrophy	790	CAD	OMIM:616457
HP:0012444	Brain atrophy	2782	GNB1	OMIM:616973
HP:0012444	Brain atrophy	55163	PNPO	ORPHA:79096
HP:0012444	Brain atrophy	5660	PSAP	OMIM:611722
HP:0012444	Brain atrophy	79944	L2HGDH	OMIM:236792
HP:0012444	Brain atrophy	8869	ST3GAL5	OMIM:609056
HP:0012444	Brain atrophy	1436	CSF1R	OMIM:221820
HP:0012444	Brain atrophy	79868	ALG13	ORPHA:324422
HP:0012444	Brain atrophy	5354	PLP1	OMIM:312080
HP:0012444	Brain atrophy	440	ASNS	OMIM:615574
HP:0012444	Brain atrophy	6651	SON	ORPHA:500150
HP:0012444	Brain atrophy	1540	CYLD	OMIM:619132
HP:0012444	Brain atrophy	215	ABCD1	ORPHA:139396
HP:0012444	Brain atrophy	1315	COPB1	OMIM:619255
HP:0012444	Brain atrophy	10352	WARS2	OMIM:619738
HP:0012444	Brain atrophy	29920	PYCR2	ORPHA:481152
HP:0012444	Brain atrophy	128989	TANGO2	ORPHA:480864
HP:0012444	Brain atrophy	22827	PUF60	ORPHA:508488
HP:0012444	Brain atrophy	1717	DHCR7	OMIM:270400
HP:0012444	Brain atrophy	1678	TIMM8A	ORPHA:52368
HP:0012444	Brain atrophy	8803	SUCLA2	OMIM:612073
HP:0012444	Brain atrophy	79587	CARS2	OMIM:616672
HP:0012444	Brain atrophy	7407	VARS1	OMIM:617802
HP:0012444	Brain atrophy	8398	PLA2G6	OMIM:612953
HP:0012444	Brain atrophy	6304	SATB1	OMIM:619229
HP:0012444	Brain atrophy	27010	TPK1	OMIM:614458
HP:0012444	Brain atrophy	10695	CNPY3	OMIM:617929
HP:0012444	Brain atrophy	6622	SNCA	OMIM:168601
HP:0012444	Brain atrophy	2512	FTL	ORPHA:157846
HP:0012444	Brain atrophy	4750	NEK1	OMIM:617892
HP:0012444	Brain atrophy	93986	FOXP2	ORPHA:209908
HP:0012444	Brain atrophy	79133	NDUFAF5	OMIM:618238
HP:0012444	Brain atrophy	4983	OPHN1	ORPHA:137831
HP:0012444	Brain atrophy	3735	KARS1	ORPHA:3240
HP:0012444	Brain atrophy	27235	COQ2	OMIM:607426
HP:0012444	Brain atrophy	64601	VPS16	OMIM:619291
HP:0012444	Brain atrophy	7384	UQCRC1	OMIM:619279
HP:0012444	Brain atrophy	22796	COG2	OMIM:617395
HP:0012444	Brain atrophy	22796	COG2	ORPHA:435934
HP:0012444	Brain atrophy	686	BTD	OMIM:253260
HP:0012444	Brain atrophy	2581	GALC	ORPHA:206436
HP:0012444	Brain atrophy	2581	GALC	OMIM:245200
HP:0012444	Brain atrophy	23203	PMPCA	ORPHA:1170
HP:0012444	Brain atrophy	2232	FDXR	ORPHA:543470
HP:0012444	Brain atrophy	2903	GRIN2A	ORPHA:289266
HP:0012444	Brain atrophy	5575	PRKAR1B	ORPHA:412066
HP:0012444	Brain atrophy	51473	DCDC2	ORPHA:84081
HP:0012444	Brain atrophy	91147	TMEM67	ORPHA:84081
HP:0012444	Brain atrophy	9440	MED17	OMIM:613668
HP:0012444	Brain atrophy	6792	CDKL5	ORPHA:1934
HP:0012444	Brain atrophy	3736	KCNA1	ORPHA:1934
HP:0012444	Brain atrophy	9091	PIGQ	ORPHA:1934
HP:0012444	Brain atrophy	150094	SIK1	ORPHA:1934
HP:0012444	Brain atrophy	23312	DMXL2	ORPHA:1934
HP:0012444	Brain atrophy	11284	PNKP	ORPHA:1934
HP:0012444	Brain atrophy	51227	PIGP	ORPHA:1934
HP:0012444	Brain atrophy	6908	TBP	OMIM:607136
HP:0012444	Brain atrophy	7074	TIAM1	OMIM:619908
HP:0012444	Brain atrophy	79989	IFT56	OMIM:619534
HP:0012444	Brain atrophy	4208	MEF2C	ORPHA:228384
HP:0012444	Brain atrophy	2892	GRIA3	OMIM:300699
HP:0012444	Brain atrophy	55681	SCYL2	OMIM:618766
HP:0012444	Brain atrophy	3097	HIVEP2	OMIM:616977
HP:0012444	Brain atrophy	112755	STX1B	ORPHA:36387
HP:0012444	Brain atrophy	112476	PRRT2	ORPHA:36387
HP:0012444	Brain atrophy	5147	PDE6D	OMIM:615665
HP:0012444	Brain atrophy	104	ADARB1	OMIM:618862
HP:0012444	Brain atrophy	3708	ITPR1	OMIM:117360
HP:0012444	Brain atrophy	4001	LMNB1	ORPHA:99027
HP:0012444	Brain atrophy	4976	OPA1	ORPHA:98673
HP:0012444	Brain atrophy	4099	MAG	OMIM:616680
HP:0012444	Brain atrophy	5832	ALDH18A1	OMIM:616586
HP:0012444	Brain atrophy	5832	ALDH18A1	ORPHA:447753
HP:0012444	Brain atrophy	5832	ALDH18A1	OMIM:601162
HP:0012444	Brain atrophy	5832	ALDH18A1	ORPHA:447760
HP:0012444	Brain atrophy	4125	MAN2B1	OMIM:248500
HP:0012444	Brain atrophy	777	CACNA1E	OMIM:618285
HP:0012444	Brain atrophy	84631	SLITRK2	OMIM:301107
HP:0012444	Brain atrophy	51728	POLR3K	OMIM:619310
HP:0012444	Brain atrophy	27247	NFU1	OMIM:620938
HP:0012444	Brain atrophy	10273	STUB1	ORPHA:412057
HP:0012444	Brain atrophy	3295	HSD17B4	OMIM:261515
HP:0012444	Brain atrophy	4191	MDH2	OMIM:617339
HP:0012444	Brain atrophy	27072	VPS41	OMIM:619389
HP:0012444	Brain atrophy	79152	FA2H	ORPHA:171629
HP:0012444	Brain atrophy	51761	ATP8A2	OMIM:615268
HP:0012444	Brain atrophy	8890	EIF2B4	OMIM:620314
HP:0012444	Brain atrophy	90952	ESAM	OMIM:620371
HP:0012444	Brain atrophy	4508	MT-ATP6	ORPHA:225154
HP:0012444	Brain atrophy	23636	NUP62	ORPHA:225154
HP:0012444	Brain atrophy	53371	NUP54	ORPHA:225154
HP:0012444	Brain atrophy	4692	NDN	ORPHA:177904
HP:0012444	Brain atrophy	4692	NDN	ORPHA:177901
HP:0012444	Brain atrophy	4692	NDN	ORPHA:98754
HP:0012444	Brain atrophy	54551	MAGEL2	ORPHA:177904
HP:0012444	Brain atrophy	54551	MAGEL2	ORPHA:177901
HP:0012444	Brain atrophy	54551	MAGEL2	ORPHA:98754
HP:0012444	Brain atrophy	4948	OCA2	ORPHA:177904
HP:0012444	Brain atrophy	4948	OCA2	ORPHA:177901
HP:0012444	Brain atrophy	4948	OCA2	ORPHA:98754
HP:0012444	Brain atrophy	26278	SACS	ORPHA:98
HP:0012444	Brain atrophy	5927	KDM5A	OMIM:620820
HP:0012444	Brain atrophy	10430	TMEM147	OMIM:620075
HP:0012444	Brain atrophy	85440	DOCK7	ORPHA:411986
HP:0012444	Brain atrophy	64072	CDH23	ORPHA:231169
HP:0012444	Brain atrophy	10083	USH1C	ORPHA:231169
HP:0012444	Brain atrophy	124590	USH1G	ORPHA:231169
HP:0012444	Brain atrophy	83715	ESPN	ORPHA:231169
HP:0012444	Brain atrophy	10518	CIB2	ORPHA:231169
HP:0012444	Brain atrophy	4647	MYO7A	ORPHA:231169
HP:0012444	Brain atrophy	4647	MYO7A	ORPHA:231178
HP:0012444	Brain atrophy	65217	PCDH15	ORPHA:231169
HP:0012444	Brain atrophy	4644	MYO5A	ORPHA:33445
HP:0012444	Brain atrophy	7399	USH2A	ORPHA:231178
HP:0012444	Brain atrophy	79955	PDZD7	ORPHA:231178
HP:0012444	Brain atrophy	25861	WHRN	ORPHA:231178
HP:0012444	Brain atrophy	84059	ADGRV1	ORPHA:231178
HP:0012444	Brain atrophy	23729	SHPK	ORPHA:440713
HP:0012444	Brain atrophy	79813	EHMT1	ORPHA:96147
HP:0012444	Brain atrophy	71	ACTG1	ORPHA:2995
HP:0012444	Brain atrophy	60	ACTB	ORPHA:2995
HP:0012444	Brain atrophy	25978	CHMP2B	ORPHA:100069
HP:0012444	Brain atrophy	5663	PSEN1	ORPHA:100069
HP:0012444	Brain atrophy	2896	GRN	ORPHA:100069
HP:0012444	Brain atrophy	54664	TMEM106B	ORPHA:100069
HP:0012444	Brain atrophy	4137	MAPT	ORPHA:100069
HP:0012444	Brain atrophy	54209	TREM2	ORPHA:100069
HP:0012444	Brain atrophy	55906	ZC4H2	OMIM:301041
HP:0012444	Brain atrophy	4558	MT-TF	ORPHA:550
HP:0012444	Brain atrophy	4572	MT-TQ	ORPHA:550
HP:0012444	Brain atrophy	4512	MT-CO1	ORPHA:550
HP:0012444	Brain atrophy	4513	MT-CO2	ORPHA:550
HP:0012444	Brain atrophy	4514	MT-CO3	ORPHA:550
HP:0012444	Brain atrophy	4578	MT-TW	ORPHA:550
HP:0012444	Brain atrophy	4540	MT-ND5	ORPHA:550
HP:0012444	Brain atrophy	4541	MT-ND6	ORPHA:550
HP:0012444	Brain atrophy	4535	MT-ND1	ORPHA:550
HP:0012444	Brain atrophy	4538	MT-ND4	ORPHA:550
HP:0012444	Brain atrophy	4567	MT-TL1	ORPHA:550
HP:0012444	Brain atrophy	4574	MT-TS1	ORPHA:550
HP:0012444	Brain atrophy	4575	MT-TS2	ORPHA:550
HP:0012444	Brain atrophy	4564	MT-TH	ORPHA:550
HP:0012444	Brain atrophy	4524	MTHFR	ORPHA:395
HP:0012444	Brain atrophy	10466	COG5	ORPHA:263487
HP:0012444	Brain atrophy	51399	TRAPPC4	OMIM:618741
HP:0012444	Brain atrophy	4723	NDUFV1	OMIM:618225
HP:0012444	Brain atrophy	9853	RUSC2	OMIM:617773
HP:0012444	Brain atrophy	54517	PUS7	OMIM:618342
HP:0012444	Brain atrophy	5994	RFXAP	OMIM:620817
HP:0012444	Brain atrophy	1161	ERCC8	ORPHA:90324
HP:0012444	Brain atrophy	2074	ERCC6	ORPHA:90324
HP:0012444	Brain atrophy	2074	ERCC6	OMIM:214150
HP:0012444	Brain atrophy	54973	INTS11	OMIM:620428
HP:0012444	Brain atrophy	4719	NDUFS1	OMIM:618226
HP:0012444	Brain atrophy	55746	NUP133	OMIM:618349
HP:0012444	Brain atrophy	4720	NDUFS2	OMIM:618228
HP:0012444	Brain atrophy	7415	VCP	OMIM:167320
HP:0012444	Brain atrophy	7415	VCP	ORPHA:52430
HP:0012444	Brain atrophy	4729	NDUFV2	OMIM:618229
HP:0012444	Brain atrophy	10274	STAG1	ORPHA:502434
HP:0012444	Brain atrophy	84320	ACBD6	OMIM:620785
HP:0012444	Brain atrophy	132158	GLYCTK	ORPHA:941
HP:0012444	Brain atrophy	1729	DIAPH1	ORPHA:477814
HP:0012444	Brain atrophy	6341	SCO1	OMIM:619048
HP:0012444	Brain atrophy	126328	NDUFA11	OMIM:618236
HP:0012444	Brain atrophy	113179	ADAT3	ORPHA:363528
HP:0012444	Brain atrophy	113179	ADAT3	OMIM:615286
HP:0012444	Brain atrophy	283489	CHAMP1	OMIM:616579
HP:0012444	Brain atrophy	22880	MORC2	ORPHA:466768
HP:0012444	Brain atrophy	4552	MTRR	ORPHA:2169
HP:0012444	Brain atrophy	65082	VPS33A	OMIM:617303
HP:0012444	Brain atrophy	65082	VPS33A	ORPHA:505248
HP:0012444	Brain atrophy	10730	YME1L1	OMIM:617302
HP:0012444	Brain atrophy	9640	ZNF592	ORPHA:83472
HP:0012444	Brain atrophy	84942	WDR73	ORPHA:83472
HP:0012444	Brain atrophy	8312	AXIN1	OMIM:620558
HP:0012444	Brain atrophy	57582	KCNT1	OMIM:614959
HP:0012444	Brain atrophy	56246	MRAP	OMIM:607398
HP:0012444	Brain atrophy	9382	COG1	OMIM:611209
HP:0012444	Brain atrophy	1353	COX11	OMIM:620275
HP:0012444	Brain atrophy	79068	FTO	OMIM:612938
HP:0012444	Brain atrophy	427	ASAH1	ORPHA:333
HP:0012444	Brain atrophy	2895	GRID2	ORPHA:363432
HP:0012444	Brain atrophy	1351	COX8A	OMIM:619059
HP:0012444	Brain atrophy	10134	BCAP31	ORPHA:369939
HP:0012444	Brain atrophy	3899	AFF3	OMIM:619297
HP:0012444	Brain atrophy	166378	AFG2A	ORPHA:457351
HP:0012444	Brain atrophy	2072	ERCC4	OMIM:278760
HP:0012444	Brain atrophy	11080	DNAJB4	OMIM:620326
HP:0012444	Brain atrophy	27315	PGAP2	OMIM:614207
HP:0012444	Brain atrophy	400569	MED11	OMIM:620327
HP:0012444	Brain atrophy	93627	TBCK	OMIM:616900
HP:0012444	Brain atrophy	29967	LRP12	OMIM:164310
HP:0012444	Brain atrophy	501	ALDH7A1	ORPHA:3006
HP:0012444	Brain atrophy	11212	PLPBP	ORPHA:3006
HP:0012444	Brain atrophy	11212	PLPBP	OMIM:617290
HP:0012444	Brain atrophy	1130	LYST	ORPHA:167
HP:0012444	Brain atrophy	84504	NKX6-2	OMIM:617560
HP:0012444	Brain atrophy	283987	HID1	OMIM:619983
HP:0012444	Brain atrophy	56479	KCNQ5	OMIM:617601
HP:0012444	Brain atrophy	23065	EMC1	OMIM:616875
HP:0012444	Brain atrophy	124997	WDR81	OMIM:617967
HP:0012444	Brain atrophy	6785	ELOVL4	OMIM:614457
HP:0012444	Brain atrophy	2752	GLUL	OMIM:610015
HP:0012444	Brain atrophy	3737	KCNA2	ORPHA:442835
HP:0012444	Brain atrophy	1759	DNM1	ORPHA:442835
HP:0012444	Brain atrophy	1759	DNM1	OMIM:620352
HP:0012444	Brain atrophy	8120	AP3B2	ORPHA:442835
HP:0012444	Brain atrophy	523	ATP6V1A	ORPHA:442835
HP:0012444	Brain atrophy	10991	SLC38A3	ORPHA:442835
HP:0012444	Brain atrophy	51343	FZR1	ORPHA:442835
HP:0012444	Brain atrophy	3747	KCNC2	ORPHA:442835
HP:0012444	Brain atrophy	1917	EEF1A2	ORPHA:442835
HP:0012444	Brain atrophy	23219	FBXO28	ORPHA:442835
HP:0012444	Brain atrophy	23219	FBXO28	OMIM:619777
HP:0012444	Brain atrophy	2561	GABRB2	ORPHA:442835
HP:0012444	Brain atrophy	8831	SYNGAP1	ORPHA:442835
HP:0012444	Brain atrophy	8831	SYNGAP1	OMIM:612621
HP:0012444	Brain atrophy	2558	GABRA5	ORPHA:442835
HP:0012444	Brain atrophy	2906	GRIN2D	ORPHA:442835
HP:0012444	Brain atrophy	116150	NUS1	ORPHA:442835
HP:0012444	Brain atrophy	1213	CLTC	ORPHA:442835
HP:0012444	Brain atrophy	51741	WWOX	ORPHA:442835
HP:0012444	Brain atrophy	23334	SZT2	ORPHA:442835
HP:0012444	Brain atrophy	348980	HCN1	ORPHA:442835
HP:0012444	Brain atrophy	25977	NECAP1	ORPHA:442835
HP:0012444	Brain atrophy	25977	NECAP1	OMIM:615833
HP:0012444	Brain atrophy	23241	PACS2	ORPHA:442835
HP:0012444	Brain atrophy	16	AARS1	ORPHA:442835
HP:0012444	Brain atrophy	6334	SCN8A	ORPHA:442835
HP:0012444	Brain atrophy	9568	GABBR2	ORPHA:442835
HP:0012444	Brain atrophy	2555	GABRA2	ORPHA:442835
HP:0012444	Brain atrophy	55152	DALRD3	ORPHA:442835
HP:0012444	Brain atrophy	26999	CYFIP2	ORPHA:442835
HP:0012444	Brain atrophy	4915	NTRK2	ORPHA:442835
HP:0012444	Brain atrophy	25973	PARS2	ORPHA:442835
HP:0012444	Brain atrophy	23097	CDK19	ORPHA:442835
HP:0012444	Brain atrophy	2257	FGF12	ORPHA:442835
HP:0012444	Brain atrophy	5530	PPP3CA	ORPHA:442835
HP:0012444	Brain atrophy	478	ATP1A3	ORPHA:442835
HP:0012444	Brain atrophy	22906	TRAK1	ORPHA:442835
HP:0012444	Brain atrophy	2566	GABRG2	ORPHA:442835
HP:0012444	Brain atrophy	7532	YWHAG	ORPHA:442835
HP:0012444	Brain atrophy	79876	UBA5	ORPHA:442835
HP:0012444	Brain atrophy	6328	SCN3A	ORPHA:442835
HP:0012444	Brain atrophy	781	CACNA2D1	ORPHA:442835
HP:0012444	Brain atrophy	10659	CELF2	ORPHA:442835
HP:0012444	Brain atrophy	774	CACNA1B	ORPHA:442835
HP:0012444	Brain atrophy	51412	ACTL6B	ORPHA:442835
HP:0012444	Brain atrophy	2290	FOXG1	ORPHA:442835
HP:0012444	Brain atrophy	6506	SLC1A2	ORPHA:442835
HP:0012444	Brain atrophy	8867	SYNJ1	ORPHA:442835
HP:0012444	Brain atrophy	8867	SYNJ1	ORPHA:391411
HP:0012444	Brain atrophy	477	ATP1A2	ORPHA:442835
HP:0012444	Brain atrophy	3745	KCNB1	ORPHA:442835
HP:0012444	Brain atrophy	284111	SLC13A5	ORPHA:442835
HP:0012444	Brain atrophy	22866	CNKSR2	ORPHA:442835
HP:0012444	Brain atrophy	773	CACNA1A	ORPHA:442835
HP:0012444	Brain atrophy	6323	SCN1A	ORPHA:442835
HP:0012444	Brain atrophy	79947	DHDDS	ORPHA:442835
HP:0012444	Brain atrophy	84947	SERAC1	OMIM:614739
HP:0012444	Brain atrophy	26834	RNU4-2	OMIM:620851
HP:0012444	Brain atrophy	374654	KIF7	OMIM:607131
HP:0012444	Brain atrophy	26227	PHGDH	OMIM:256520
HP:0012444	Brain atrophy	9997	SCO2	OMIM:604377
HP:0012444	Brain atrophy	443	ASPA	OMIM:271900
HP:0012444	Brain atrophy	51241	COX16	OMIM:619355
HP:0012444	Brain atrophy	149371	EXOC8	OMIM:619076
HP:0012444	Brain atrophy	28962	OSTM1	ORPHA:85179
HP:0012444	Brain atrophy	10846	PDE10A	ORPHA:494526
HP:0012444	Brain atrophy	56006	SMG9	OMIM:616920
HP:0012444	Brain atrophy	51002	TPRKB	OMIM:617731
HP:0012444	Brain atrophy	8239	USP9X	ORPHA:480880
HP:0012444	Brain atrophy	3704	ITPA	OMIM:616647
HP:0012444	Brain atrophy	55823	VPS11	OMIM:619637
HP:0012444	Brain atrophy	79751	SLC25A22	OMIM:609304
HP:0012444	Brain atrophy	378884	NHLRC1	ORPHA:501
HP:0012444	Brain atrophy	7957	EPM2A	ORPHA:501
HP:0012444	Brain atrophy	79759	ZNF668	OMIM:620194
HP:0012444	Brain atrophy	9829	DNAJC6	ORPHA:391411
HP:0012444	Brain atrophy	5420	PODXL	ORPHA:391411
HP:0012444	Brain atrophy	51611	DPH5	OMIM:620070
HP:0012444	Brain atrophy	4247	MGAT2	ORPHA:79329
HP:0012444	Brain atrophy	51360	MBTPS2	OMIM:308205
HP:0012444	Brain atrophy	6305	SBF1	OMIM:615284
HP:0012444	Brain atrophy	374354	NHLRC2	OMIM:618278
HP:0012444	Brain atrophy	128240	NAXE	OMIM:617186
HP:0012444	Brain atrophy	57570	TRMT5	OMIM:616539
HP:0012444	Brain atrophy	5591	PRKDC	OMIM:615966
HP:0012444	Brain atrophy	9409	PEX16	OMIM:614877
HP:0012444	Brain atrophy	539	ATP5PO	OMIM:620359
HP:0012444	Brain atrophy	57038	RARS2	OMIM:611523
HP:0012444	Brain atrophy	57462	MYORG	OMIM:618317
HP:0012444	Brain atrophy	8911	CACNA1I	OMIM:620114
HP:0012444	Brain atrophy	91949	COG7	ORPHA:79333
HP:0012444	Brain atrophy	84628	NTNG2	OMIM:618718
HP:0012444	Brain atrophy	3178	HNRNPA1	ORPHA:52430
HP:0012444	Brain atrophy	3181	HNRNPA2B1	ORPHA:52430
HP:0012444	Brain atrophy	4854	NOTCH3	ORPHA:136
HP:0012444	Brain atrophy	4677	NARS1	OMIM:619092
HP:0012444	Brain atrophy	2261	FGFR3	ORPHA:85165
HP:0012444	Brain atrophy	50628	GEMIN4	OMIM:617913
HP:0012444	Brain atrophy	875	CBS	OMIM:236200
HP:0012444	Brain atrophy	10195	ALG3	ORPHA:79321
HP:0012444	Brain atrophy	6509	SLC1A4	ORPHA:447997
HP:0012444	Brain atrophy	29110	TBK1	OMIM:620880
HP:0012444	Brain atrophy	2801	GOLGA2	OMIM:620240
HP:0012444	Brain atrophy	64802	NMNAT1	OMIM:619260
HP:0012444	Brain atrophy	5654	HTRA1	OMIM:600142
HP:0012444	Brain atrophy	6567	SLC16A2	ORPHA:59
HP:0012444	Brain atrophy	55181	SMG8	OMIM:619268
HP:0012444	Brain atrophy	1892	ECHS1	OMIM:616277
HP:0012444	Brain atrophy	63925	ZNF335	ORPHA:329228
HP:0012444	Brain atrophy	22930	RAB3GAP1	OMIM:619420
HP:0012444	Brain atrophy	8625	RFXANK	OMIM:620815
HP:0012444	Brain atrophy	10535	RNASEH2A	ORPHA:51
HP:0012444	Brain atrophy	84153	RNASEH2C	ORPHA:51
HP:0012444	Brain atrophy	25939	SAMHD1	ORPHA:51
HP:0012444	Brain atrophy	79621	RNASEH2B	ORPHA:51
HP:0012444	Brain atrophy	103	ADAR	ORPHA:51
HP:0012444	Brain atrophy	11277	TREX1	ORPHA:51
HP:0012444	Brain atrophy	100147744	RNU7-1	ORPHA:51
HP:0012444	Brain atrophy	134353	LSM11	ORPHA:51
HP:0012444	Brain atrophy	64135	IFIH1	ORPHA:51
HP:0012444	Brain atrophy	5813	PURA	ORPHA:314655
HP:0012444	Brain atrophy	100151683	RNU4ATAC	ORPHA:353298
HP:0012444	Brain atrophy	57094	CPA6	OMIM:614418
HP:0012444	Brain atrophy	29998	BICRA	OMIM:619325
HP:0002062	Abnormal pyramidal tract morphology	5621	PRNP	ORPHA:356
HP:0002062	Abnormal pyramidal tract morphology	9217	VAPB	OMIM:608627
HP:0002062	Abnormal pyramidal tract morphology	6315	ATXN8OS	OMIM:608768
HP:0002062	Abnormal pyramidal tract morphology	724066	ATXN8	OMIM:608768
HP:0002062	Abnormal pyramidal tract morphology	9131	AIFM1	ORPHA:83629
HP:0002062	Abnormal pyramidal tract morphology	3748	KCNC3	OMIM:605259
HP:0002062	Abnormal pyramidal tract morphology	11277	TREX1	OMIM:225750
HP:0002062	Abnormal pyramidal tract morphology	25814	ATXN10	OMIM:603516
HP:0002062	Abnormal pyramidal tract morphology	4137	MAPT	OMIM:260540
HP:0002062	Abnormal pyramidal tract morphology	80169	CTC1	OMIM:612199
HP:0002062	Abnormal pyramidal tract morphology	8575	PRKRA	OMIM:612067
HP:0002062	Abnormal pyramidal tract morphology	8398	PLA2G6	OMIM:256600
HP:0002062	Abnormal pyramidal tract morphology	6531	SLC6A3	OMIM:613135
HP:0002062	Abnormal pyramidal tract morphology	2581	GALC	ORPHA:206448
HP:0002062	Abnormal pyramidal tract morphology	6513	SLC2A1	OMIM:601042
HP:0002062	Abnormal pyramidal tract morphology	80704	SLC19A3	OMIM:607483
HP:0002062	Abnormal pyramidal tract morphology	1807	DPYS	OMIM:222748
HP:0002062	Abnormal pyramidal tract morphology	79944	L2HGDH	OMIM:236792
HP:0002062	Abnormal pyramidal tract morphology	8139	GAN	OMIM:256850
HP:0002062	Abnormal pyramidal tract morphology	6253	RTN2	ORPHA:100993
HP:0002062	Abnormal pyramidal tract morphology	51271	UBAP1	ORPHA:100993
HP:0002062	Abnormal pyramidal tract morphology	126129	CPT1C	ORPHA:444099
HP:0002062	Abnormal pyramidal tract morphology	9897	WASHC5	OMIM:603563
HP:0002062	Abnormal pyramidal tract morphology	9897	WASHC5	ORPHA:100989
HP:0002062	Abnormal pyramidal tract morphology	123606	NIPA1	OMIM:600363
HP:0002062	Abnormal pyramidal tract morphology	6687	SPG7	OMIM:607259
HP:0002062	Abnormal pyramidal tract morphology	3839	KPNA3	ORPHA:171612
HP:0002062	Abnormal pyramidal tract morphology	9197	SLC33A1	ORPHA:171863
HP:0002062	Abnormal pyramidal tract morphology	6683	SPAST	OMIM:182601
HP:0002062	Abnormal pyramidal tract morphology	51062	ATL1	OMIM:182600
HP:0002062	Abnormal pyramidal tract morphology	6647	SOD1	OMIM:105400
HP:0002062	Abnormal pyramidal tract morphology	5630	PRPH	OMIM:105400
HP:0002062	Abnormal pyramidal tract morphology	1639	DCTN1	OMIM:105400
HP:0002062	Abnormal pyramidal tract morphology	4744	NEFH	OMIM:105400
HP:0002062	Abnormal pyramidal tract morphology	5354	PLP1	OMIM:312920
HP:0002062	Abnormal pyramidal tract morphology	2521	FUS	ORPHA:275872
HP:0002062	Abnormal pyramidal tract morphology	8878	SQSTM1	ORPHA:275872
HP:0002062	Abnormal pyramidal tract morphology	7415	VCP	ORPHA:275872
HP:0002062	Abnormal pyramidal tract morphology	23435	TARDBP	ORPHA:275872
HP:0002062	Abnormal pyramidal tract morphology	29110	TBK1	ORPHA:275872
HP:0002062	Abnormal pyramidal tract morphology	400916	CHCHD10	ORPHA:275872
HP:0002062	Abnormal pyramidal tract morphology	80208	SPG11	OMIM:604360
HP:0002062	Abnormal pyramidal tract morphology	5888	RAD51	ORPHA:238722
HP:0002062	Abnormal pyramidal tract morphology	10126	DNAL4	ORPHA:238722
HP:0002062	Abnormal pyramidal tract morphology	9423	NTN1	ORPHA:238722
HP:0002062	Abnormal pyramidal tract morphology	1630	DCC	ORPHA:238722
HP:0002062	Abnormal pyramidal tract morphology	57679	ALS2	OMIM:607225
HP:0002062	Abnormal pyramidal tract morphology	5162	PDHB	ORPHA:255138
HP:0002062	Abnormal pyramidal tract morphology	3897	L1CAM	OMIM:307000
HP:0002062	Abnormal pyramidal tract morphology	4508	MT-ATP6	ORPHA:644
HP:0002062	Abnormal pyramidal tract morphology	4508	MT-ATP6	OMIM:551500
HP:0002062	Abnormal pyramidal tract morphology	2218	FKTN	OMIM:253800
HP:0002062	Abnormal pyramidal tract morphology	477	ATP1A2	OMIM:619602
HP:0002062	Abnormal pyramidal tract morphology	6804	STX1A	ORPHA:904
HP:0002062	Abnormal pyramidal tract morphology	7461	CLIP2	ORPHA:904
HP:0002062	Abnormal pyramidal tract morphology	84277	DNAJC30	ORPHA:904
HP:0002062	Abnormal pyramidal tract morphology	8468	FKBP6	ORPHA:904
HP:0002062	Abnormal pyramidal tract morphology	5982	RFC2	ORPHA:904
HP:0002062	Abnormal pyramidal tract morphology	2969	GTF2I	ORPHA:904
HP:0002062	Abnormal pyramidal tract morphology	3984	LIMK1	ORPHA:904
HP:0002062	Abnormal pyramidal tract morphology	9569	GTF2IRD1	ORPHA:904
HP:0002062	Abnormal pyramidal tract morphology	155382	VPS37D	ORPHA:904
HP:0002062	Abnormal pyramidal tract morphology	155368	METTL27	ORPHA:904
HP:0002062	Abnormal pyramidal tract morphology	114049	BUD23	ORPHA:904
HP:0002062	Abnormal pyramidal tract morphology	7458	EIF4H	ORPHA:904
HP:0002062	Abnormal pyramidal tract morphology	84163	GTF2IRD2	ORPHA:904
HP:0002062	Abnormal pyramidal tract morphology	26608	TBL2	ORPHA:904
HP:0002062	Abnormal pyramidal tract morphology	653361	NCF1	ORPHA:904
HP:0002062	Abnormal pyramidal tract morphology	135886	TMEM270	ORPHA:904
HP:0002062	Abnormal pyramidal tract morphology	9031	BAZ1B	ORPHA:904
HP:0002062	Abnormal pyramidal tract morphology	2006	ELN	ORPHA:904
HP:0002062	Abnormal pyramidal tract morphology	215	ABCD1	ORPHA:139399
HP:0012447	Abnormal myelination	199857	ALG14	OMIM:619031
HP:0012447	Abnormal myelination	199857	ALG14	OMIM:619036
HP:0012447	Abnormal myelination	9131	AIFM1	OMIM:300232
HP:0012447	Abnormal myelination	26235	FBXL4	OMIM:615471
HP:0012447	Abnormal myelination	8367	H4C5	OMIM:619950
HP:0012447	Abnormal myelination	104	ADARB1	OMIM:618862
HP:0012447	Abnormal myelination	375	ARF1	OMIM:618185
HP:0012447	Abnormal myelination	3145	HMBS	OMIM:620704
HP:0012447	Abnormal myelination	10059	DNM1L	OMIM:614388
HP:0012447	Abnormal myelination	23417	MLYCD	OMIM:248360
HP:0012447	Abnormal myelination	347734	SLC35B2	OMIM:620269
HP:0012447	Abnormal myelination	81570	CLPB	OMIM:619835
HP:0012447	Abnormal myelination	51506	UFC1	OMIM:618076
HP:0012447	Abnormal myelination	283489	CHAMP1	OMIM:616579
HP:0012447	Abnormal myelination	387787	LIPT2	OMIM:617668
HP:0012447	Abnormal myelination	4010	LMX1B	ORPHA:495818
HP:0012447	Abnormal myelination	166378	AFG2A	OMIM:616577
HP:0012447	Abnormal myelination	10730	YME1L1	OMIM:617302
HP:0012447	Abnormal myelination	375387	NRROS	OMIM:618875
HP:0012447	Abnormal myelination	5610	EIF2AK2	OMIM:618877
HP:0012447	Abnormal myelination	3781	KCNN2	OMIM:619725
HP:0012447	Abnormal myelination	9915	ARNT2	OMIM:615926
HP:0012447	Abnormal myelination	79693	YRDC	OMIM:619609
HP:0012447	Abnormal myelination	7175	TPR	OMIM:620393
HP:0012447	Abnormal myelination	57492	ARID1B	OMIM:135900
HP:0012447	Abnormal myelination	55870	ASH1L	OMIM:617796
HP:0012447	Abnormal myelination	6884	TAF13	OMIM:617432
HP:0012447	Abnormal myelination	6573	SLC19A1	OMIM:620603
HP:0012447	Abnormal myelination	5191	PEX7	OMIM:215100
HP:0012447	Abnormal myelination	501	ALDH7A1	ORPHA:3006
HP:0012447	Abnormal myelination	11212	PLPBP	ORPHA:3006
HP:0012447	Abnormal myelination	652	BMP4	OMIM:607932
HP:0012447	Abnormal myelination	1656	DDX6	OMIM:618653
HP:0012447	Abnormal myelination	497661	C18orf32	OMIM:619985
HP:0012447	Abnormal myelination	23327	NEDD4L	OMIM:617201
HP:0012447	Abnormal myelination	132158	GLYCTK	OMIM:220120
HP:0012447	Abnormal myelination	833	CARS1	OMIM:618891
HP:0012447	Abnormal myelination	57178	ZMIZ1	OMIM:618659
HP:0012447	Abnormal myelination	2783	GNB2	OMIM:619503
HP:0012447	Abnormal myelination	25942	SIN3A	OMIM:613406
HP:0012447	Abnormal myelination	26834	RNU4-2	OMIM:620851
HP:0012447	Abnormal myelination	7915	ALDH5A1	OMIM:271980
HP:0012447	Abnormal myelination	1499	CTNNB1	ORPHA:404473
HP:0012447	Abnormal myelination	9653	HS2ST1	OMIM:619194
HP:0012447	Abnormal myelination	1186	CLCN7	OMIM:618541
HP:0012447	Abnormal myelination	1182	CLCN3	OMIM:619512
HP:0012447	Abnormal myelination	1182	CLCN3	OMIM:619517
HP:0012447	Abnormal myelination	149371	EXOC8	OMIM:619076
HP:0012447	Abnormal myelination	54914	FOCAD	OMIM:619991
HP:0012447	Abnormal myelination	56006	SMG9	OMIM:616920
HP:0012447	Abnormal myelination	116115	ZNF526	OMIM:619877
HP:0012447	Abnormal myelination	4191	MDH2	OMIM:617339
HP:0012447	Abnormal myelination	83475	DOHH	OMIM:620066
HP:0012447	Abnormal myelination	6609	SMPD1	OMIM:257200
HP:0012447	Abnormal myelination	728294	D2HGDH	OMIM:600721
HP:0012447	Abnormal myelination	9276	COPB2	OMIM:619884
HP:0012447	Abnormal myelination	9276	COPB2	OMIM:617800
HP:0012447	Abnormal myelination	7358	UGDH	OMIM:618792
HP:0012447	Abnormal myelination	4849	CNOT3	OMIM:618672
HP:0012447	Abnormal myelination	9440	MED17	OMIM:613668
HP:0012447	Abnormal myelination	10430	TMEM147	OMIM:620075
HP:0012447	Abnormal myelination	4677	NARS1	OMIM:619091
HP:0012447	Abnormal myelination	7143	TNR	OMIM:619653
HP:0012447	Abnormal myelination	55120	FANCL	OMIM:614083
HP:0012447	Abnormal myelination	197258	FCSK	OMIM:618324
HP:0012447	Abnormal myelination	85365	ALG2	OMIM:607906
HP:0012447	Abnormal myelination	3798	KIF5A	OMIM:617235
HP:0012447	Abnormal myelination	27086	FOXP1	OMIM:613670
HP:0012447	Abnormal myelination	8218	CLTCL1	ORPHA:453510
HP:0012447	Abnormal myelination	25836	NIPBL	OMIM:122470
HP:0012447	Abnormal myelination	9725	TMEM63A	OMIM:618688
HP:0012447	Abnormal myelination	50628	GEMIN4	OMIM:617913
HP:0012447	Abnormal myelination	2146	EZH2	OMIM:277590
HP:0012447	Abnormal myelination	84978	FRMD5	OMIM:620094
HP:0012447	Abnormal myelination	404672	GTF2H5	OMIM:616395
HP:0012447	Abnormal myelination	51645	PPIL1	OMIM:619301
HP:0012447	Abnormal myelination	8295	TRRAP	OMIM:618454
HP:0012447	Abnormal myelination	10159	ATP6AP2	OMIM:300423
HP:0012447	Abnormal myelination	7040	TGFB1	OMIM:618213
HP:0012447	Abnormal myelination	51362	CDC40	OMIM:619302
HP:0012447	Abnormal myelination	133686	NADK2	OMIM:616034
HP:0012447	Abnormal myelination	51693	TRAPPC2L	OMIM:618331
HP:0012447	Abnormal myelination	84188	FAR1	OMIM:616154
HP:0012447	Abnormal myelination	27133	KCNH5	OMIM:620537
HP:0012447	Abnormal myelination	22907	DHX30	OMIM:617804
HP:0012447	Abnormal myelination	11338	U2AF2	OMIM:620535
HP:0012447	Abnormal myelination	51013	EXOSC1	OMIM:619304
HP:0012447	Abnormal myelination	5910	RAP1GDS1	OMIM:620655
HP:0012447	Abnormal myelination	2744	GLS	OMIM:618339
HP:0012447	Abnormal myelination	339453	TMEM240	OMIM:607454
HP:0012447	Abnormal myelination	9230	RAB11B	OMIM:617807
HP:0012447	Abnormal myelination	30000	TNPO2	OMIM:619556
HP:0012447	Abnormal myelination	2187	FANCB	OMIM:300514
HP:0012447	Abnormal myelination	54973	INTS11	OMIM:620428
HP:0012447	Abnormal myelination	83548	COG3	OMIM:620546
HP:0012447	Abnormal myelination	55746	NUP133	OMIM:618349
HP:0012447	Abnormal myelination	85358	SHANK3	OMIM:606232
HP:0012447	Abnormal myelination	128869	PIGU	OMIM:618590
HP:0012447	Abnormal myelination	7707	ZNF148	OMIM:617260
HP:0012447	Abnormal myelination	5515	PPP2CA	OMIM:618354
HP:0012447	Abnormal myelination	79868	ALG13	OMIM:300884
HP:0012447	Abnormal myelination	51601	LIPT1	OMIM:616299
HP:0012447	Abnormal myelination	473	RERE	OMIM:616975
HP:0012447	Abnormal myelination	7453	WARS1	OMIM:620317
HP:0012447	Abnormal myelination	10588	MTHFS	OMIM:618367
HP:0012447	Abnormal myelination	23221	RHOBTB2	OMIM:618004
HP:0012447	Abnormal myelination	63925	ZNF335	OMIM:615095
HP:0012447	Abnormal myelination	22930	RAB3GAP1	OMIM:600118
HP:0012447	Abnormal myelination	54496	PRMT7	OMIM:617157
HP:0012447	Abnormal myelination	23511	NUP188	OMIM:618804
HP:0012447	Abnormal myelination	26007	TKFC	OMIM:618805
HP:0012447	Abnormal myelination	3054	HCFC1	OMIM:309541
HP:0012447	Abnormal myelination	3183	HNRNPC	OMIM:620688
HP:0012447	Abnormal myelination	51608	GET4	OMIM:620200
HP:0012447	Abnormal myelination	4594	MMUT	OMIM:251000
HP:0012447	Abnormal myelination	2898	GRIK2	OMIM:619580
HP:0012447	Abnormal myelination	9758	FRMPD4	OMIM:300983
HP:0012447	Abnormal myelination	54664	TMEM106B	OMIM:617964
HP:0012447	Abnormal myelination	6785	ELOVL4	OMIM:614457
HP:0012447	Abnormal myelination	8883	NAE1	OMIM:620210
HP:0012447	Abnormal myelination	64864	RFX7	OMIM:620330
HP:0012447	Abnormal myelination	8943	AP3D1	OMIM:617050
HP:0012447	Abnormal myelination	51095	TRNT1	OMIM:616084
HP:0012447	Abnormal myelination	51501	HIKESHI	OMIM:616881
HP:0012447	Abnormal myelination	94005	PIGS	OMIM:618143
HP:0012447	Abnormal myelination	91461	PKDCC	OMIM:618821
HP:0012447	Abnormal myelination	8452	CUL3	OMIM:619239
HP:0012447	Abnormal myelination	4329	ALDH6A1	OMIM:614105
HP:0012447	Abnormal myelination	3704	ITPA	OMIM:616647
HP:0012447	Abnormal myelination	8567	MADD	OMIM:619004
HP:0012447	Abnormal myelination	8567	MADD	OMIM:619005
HP:0012447	Abnormal myelination	51124	IER3IP1	OMIM:614231
HP:0012447	Abnormal myelination	57570	TRMT5	OMIM:616539
HP:0012447	Abnormal myelination	9739	SETD1A	OMIM:618832
HP:0012447	Abnormal myelination	6509	SLC1A4	OMIM:616657
HP:0012447	Abnormal myelination	8911	CACNA1I	OMIM:620114
HP:0012447	Abnormal myelination	617	BCS1L	OMIM:124000
HP:0012447	Abnormal myelination	95	ACY1	OMIM:609924
HP:0012447	Abnormal myelination	6529	SLC6A1	OMIM:616421
HP:0012447	Abnormal myelination	23154	NCDN	OMIM:619373
HP:0012447	Abnormal myelination	5455	POU3F3	OMIM:618604
HP:0012447	Abnormal myelination	5430	POLR2A	OMIM:618603
HP:0012447	Abnormal myelination	81615	TMEM163	OMIM:620243
HP:0012447	Abnormal myelination	9939	RBM8A	OMIM:274000
HP:0012447	Abnormal myelination	124454	EARS2	OMIM:614924
HP:0012447	Abnormal myelination	10079	ATP9A	OMIM:620242
HP:0012447	Abnormal myelination	2801	GOLGA2	OMIM:620240
HP:0012447	Abnormal myelination	64802	NMNAT1	OMIM:619260
HP:0012447	Abnormal myelination	29928	TIMM22	OMIM:618851
HP:0012447	Abnormal myelination	51733	UPB1	OMIM:613161
HP:0012447	Abnormal myelination	57647	DHX37	OMIM:618731
HP:0012447	Abnormal myelination	23404	EXOSC2	OMIM:617763
HP:0012447	Abnormal myelination	7543	ZFX	OMIM:301118
HP:0012447	Abnormal myelination	221692	PHACTR1	OMIM:618298
HP:0012447	Abnormal myelination	10464	PIBF1	OMIM:617767
HP:0012447	Abnormal myelination	221927	BRAT1	OMIM:614498
HP:0012447	Abnormal myelination	3735	KARS1	OMIM:619196
HP:0012447	Abnormal myelination	5091	PC	OMIM:266150
HP:0012447	Abnormal myelination	54539	NDUFB11	ORPHA:2609
HP:0012447	Abnormal myelination	25915	NDUFAF3	ORPHA:2609
HP:0012447	Abnormal myelination	51103	NDUFAF1	ORPHA:2609
HP:0012447	Abnormal myelination	91942	NDUFAF2	ORPHA:2609
HP:0012447	Abnormal myelination	51300	TIMMDC1	ORPHA:2609
HP:0012447	Abnormal myelination	4716	NDUFB10	ORPHA:2609
HP:0012447	Abnormal myelination	4723	NDUFV1	ORPHA:2609
HP:0012447	Abnormal myelination	4723	NDUFV1	OMIM:618225
HP:0012447	Abnormal myelination	284184	NDUFAF8	ORPHA:2609
HP:0012447	Abnormal myelination	55863	TMEM126B	ORPHA:2609
HP:0012447	Abnormal myelination	4729	NDUFV2	ORPHA:2609
HP:0012447	Abnormal myelination	4694	NDUFA1	ORPHA:2609
HP:0012447	Abnormal myelination	4720	NDUFS2	ORPHA:2609
HP:0012447	Abnormal myelination	4724	NDUFS4	ORPHA:2609
HP:0012447	Abnormal myelination	4724	NDUFS4	OMIM:252010
HP:0012447	Abnormal myelination	4726	NDUFS6	ORPHA:2609
HP:0012447	Abnormal myelination	4728	NDUFS8	ORPHA:2609
HP:0012447	Abnormal myelination	4722	NDUFS3	ORPHA:2609
HP:0012447	Abnormal myelination	79133	NDUFAF5	ORPHA:2609
HP:0012447	Abnormal myelination	126328	NDUFA11	ORPHA:2609
HP:0012447	Abnormal myelination	4709	NDUFB3	ORPHA:2609
HP:0012447	Abnormal myelination	80224	NUBPL	ORPHA:2609
HP:0012447	Abnormal myelination	80224	NUBPL	OMIM:618242
HP:0012447	Abnormal myelination	29078	NDUFAF4	ORPHA:2609
HP:0012447	Abnormal myelination	374291	NDUFS7	ORPHA:2609
HP:0012447	Abnormal myelination	4700	NDUFA6	ORPHA:2609
HP:0012447	Abnormal myelination	4719	NDUFS1	ORPHA:2609
HP:0012447	Abnormal myelination	4719	NDUFS1	OMIM:618226
HP:0012447	Abnormal myelination	4715	NDUFB9	ORPHA:2609
HP:0012447	Abnormal myelination	11019	LIAS	OMIM:614462
HP:0012447	Abnormal myelination	84504	NKX6-2	ORPHA:527497
HP:0012447	Abnormal myelination	84504	NKX6-2	OMIM:617560
HP:0012447	Abnormal myelination	9255	AIMP1	OMIM:260600
HP:0012447	Abnormal myelination	64857	PLEKHG2	OMIM:616763
HP:0012447	Abnormal myelination	100996717	NOTCH2NLC	OMIM:618866
HP:0012447	Abnormal myelination	4001	LMNB1	OMIM:169500
HP:0012447	Abnormal myelination	1605	DAG1	ORPHA:370997
HP:0012447	Abnormal myelination	1605	DAG1	OMIM:616538
HP:0012447	Abnormal myelination	11128	POLR3A	ORPHA:447896
HP:0012447	Abnormal myelination	11128	POLR3A	ORPHA:3455
HP:0012447	Abnormal myelination	11128	POLR3A	OMIM:607694
HP:0012447	Abnormal myelination	51218	GLRX5	ORPHA:401866
HP:0012447	Abnormal myelination	51218	GLRX5	OMIM:616859
HP:0012447	Abnormal myelination	9533	POLR1C	OMIM:616494
HP:0012447	Abnormal myelination	5189	PEX1	OMIM:601539
HP:0012447	Abnormal myelination	122961	ISCA2	OMIM:616370
HP:0012447	Abnormal myelination	5192	PEX10	OMIM:614871
HP:0012447	Abnormal myelination	1910	EDNRB	OMIM:277580
HP:0012447	Abnormal myelination	7284	TUFM	OMIM:610678
HP:0012447	Abnormal myelination	25885	POLR1A	OMIM:620675
HP:0012447	Abnormal myelination	51	ACOX1	OMIM:264470
HP:0012447	Abnormal myelination	1340	COX6B1	OMIM:619051
HP:0012447	Abnormal myelination	57551	TAOK1	OMIM:619575
HP:0012447	Abnormal myelination	56915	EXOSC5	OMIM:619576
HP:0012447	Abnormal myelination	23250	ATP11A	OMIM:619851
HP:0012447	Abnormal myelination	5917	RARS1	OMIM:616140
HP:0012447	Abnormal myelination	727676	SNORD118	OMIM:614561
HP:0012447	Abnormal myelination	29920	PYCR2	OMIM:616420
HP:0012447	Abnormal myelination	200205	IBA57	OMIM:615330
HP:0012447	Abnormal myelination	2058	EPRS1	OMIM:617951
HP:0012447	Abnormal myelination	7965	AIMP2	OMIM:618006
HP:0012447	Abnormal myelination	85021	REPS1	OMIM:617916
HP:0012447	Abnormal myelination	3431	SP110	ORPHA:79124
HP:0012447	Abnormal myelination	79053	ALG8	ORPHA:79325
HP:0012447	Abnormal myelination	6390	SDHB	OMIM:619224
HP:0012447	Abnormal myelination	8789	FBP2	OMIM:619864
HP:0012447	Abnormal myelination	18	ABAT	OMIM:613163
HP:0012447	Abnormal myelination	55331	ACER3	OMIM:617762
HP:0012447	Abnormal myelination	80169	CTC1	OMIM:612199
HP:0012447	Abnormal myelination	388962	BOLA3	OMIM:614299
HP:0012447	Abnormal myelination	3329	HSPD1	OMIM:612233
HP:0012447	Abnormal myelination	10382	TUBB4A	OMIM:612438
HP:0012447	Abnormal myelination	5297	PI4KA	OMIM:619708
HP:0012447	Abnormal myelination	84705	GTPBP3	ORPHA:444013
HP:0012447	Abnormal myelination	2067	ERCC1	ORPHA:90322
HP:0012447	Abnormal myelination	50846	DHH	ORPHA:168563
HP:0012447	Abnormal myelination	4359	MPZ	OMIM:618184
HP:0012447	Abnormal myelination	4359	MPZ	OMIM:118200
HP:0012447	Abnormal myelination	4359	MPZ	OMIM:180800
HP:0012447	Abnormal myelination	4359	MPZ	OMIM:607677
HP:0012447	Abnormal myelination	4359	MPZ	OMIM:145900
HP:0012447	Abnormal myelination	4000	LMNA	OMIM:605588
HP:0012447	Abnormal myelination	4000	LMNA	ORPHA:98856
HP:0012447	Abnormal myelination	23769	FLRT1	ORPHA:320406
HP:0012447	Abnormal myelination	64837	KLC2	ORPHA:320406
HP:0012447	Abnormal myelination	91574	MTRFR	ORPHA:254930
HP:0012447	Abnormal myelination	23321	TRIM2	OMIM:615490
HP:0012447	Abnormal myelination	9927	MFN2	OMIM:609260
HP:0012447	Abnormal myelination	4358	MPV17	OMIM:256810
HP:0012447	Abnormal myelination	8139	GAN	OMIM:256850
HP:0012447	Abnormal myelination	7879	RAB7A	OMIM:600882
HP:0012447	Abnormal myelination	10743	RAI1	ORPHA:477817
HP:0012447	Abnormal myelination	56704	JPH1	OMIM:607831
HP:0012447	Abnormal myelination	65125	WNK1	OMIM:201300
HP:0012447	Abnormal myelination	54463	RETREG1	OMIM:201300
HP:0012447	Abnormal myelination	6335	SCN9A	OMIM:201300
HP:0012447	Abnormal myelination	547	KIF1A	OMIM:201300
HP:0012447	Abnormal myelination	23095	KIF1B	OMIM:118210
HP:0012447	Abnormal myelination	2705	GJB1	OMIM:302800
HP:0012447	Abnormal myelination	57716	PRX	OMIM:614895
HP:0012447	Abnormal myelination	57716	PRX	OMIM:145900
HP:0012447	Abnormal myelination	55775	TDP1	OMIM:607250
HP:0012447	Abnormal myelination	23230	VPS13A	ORPHA:2388
HP:0012447	Abnormal myelination	1786	DNMT1	OMIM:614116
HP:0012447	Abnormal myelination	1959	EGR2	OMIM:145900
HP:0012447	Abnormal myelination	81846	SBF2	OMIM:604563
HP:0012447	Abnormal myelination	1785	DNM2	OMIM:606482
HP:0012447	Abnormal myelination	121512	FGD4	OMIM:609311
HP:0012447	Abnormal myelination	80208	SPG11	OMIM:604360
HP:0012447	Abnormal myelination	50717	DCAF8	OMIM:610100
HP:0012447	Abnormal myelination	9639	ARHGEF10	OMIM:608236
HP:0012447	Abnormal myelination	6305	SBF1	OMIM:615284
HP:0012447	Abnormal myelination	59345	GNB4	OMIM:615185
HP:0012447	Abnormal myelination	5375	PMP2	OMIM:618279
HP:0012447	Abnormal myelination	64423	INF2	OMIM:614455
HP:0012447	Abnormal myelination	1337	COX6A1	OMIM:616039
HP:0012447	Abnormal myelination	84668	HYCC1	OMIM:610532
HP:0012447	Abnormal myelination	9896	FIG4	OMIM:611228
HP:0012447	Abnormal myelination	8565	YARS1	OMIM:608323
HP:0012447	Abnormal myelination	9516	LITAF	OMIM:601098
HP:0012447	Abnormal myelination	8729	GBF1	OMIM:606483
HP:0012447	Abnormal myelination	8518	ELP1	OMIM:223900
HP:0012447	Abnormal myelination	4311	MME	ORPHA:497764
HP:0012447	Abnormal myelination	57449	PLEKHG5	OMIM:615376
HP:0012447	Abnormal myelination	54840	APTX	OMIM:208920
HP:0012447	Abnormal myelination	56652	TWNK	OMIM:271245
HP:0012447	Abnormal myelination	26353	HSPB8	OMIM:608673
HP:0012447	Abnormal myelination	1798	DPAGT1	ORPHA:86309
HP:0012447	Abnormal myelination	158	ADSL	OMIM:103050
HP:0012447	Abnormal myelination	91452	ACBD5	OMIM:618863
HP:0012447	Abnormal myelination	8506	CNTNAP1	OMIM:618186
HP:0012447	Abnormal myelination	1859	DYRK1A	ORPHA:268261
HP:0012447	Abnormal myelination	2517	FUCA1	OMIM:230000
HP:0012447	Abnormal myelination	60684	TRAPPC11	OMIM:615356
HP:0012447	Abnormal myelination	55505	NOP10	OMIM:620425
HP:0012447	Abnormal myelination	55627	SMPD4	OMIM:618622
HP:0012447	Abnormal myelination	79753	SNIP1	OMIM:614501
HP:0012447	Abnormal myelination	1119	CHKA	OMIM:620023
HP:0012447	Abnormal myelination	2521	FUS	ORPHA:300605
HP:0012447	Abnormal myelination	10280	SIGMAR1	ORPHA:300605
HP:0012447	Abnormal myelination	10558	SPTLC1	ORPHA:300605
HP:0012447	Abnormal myelination	57679	ALS2	ORPHA:300605
HP:0012447	Abnormal myelination	221496	LEMD2	OMIM:619322
HP:0012447	Abnormal myelination	90522	YIF1B	OMIM:619125
HP:0012447	Abnormal myelination	1615	DARS1	OMIM:615281
HP:0012447	Abnormal myelination	55182	RNF220	OMIM:619688
HP:0012447	Abnormal myelination	3074	HEXB	OMIM:268800
HP:0012447	Abnormal myelination	3074	HEXB	ORPHA:309155
HP:0012447	Abnormal myelination	5859	QARS1	OMIM:615760
HP:0012447	Abnormal myelination	9442	MED27	OMIM:619286
HP:0012447	Abnormal myelination	5591	PRKDC	OMIM:615966
HP:0012447	Abnormal myelination	5010	CLDN11	OMIM:619328
HP:0012447	Abnormal myelination	1650	DDOST	ORPHA:300536
HP:0012447	Abnormal myelination	6904	TBCD	OMIM:617193
HP:0012447	Abnormal myelination	10134	BCAP31	ORPHA:369939
HP:0012447	Abnormal myelination	79989	IFT56	OMIM:619534
HP:0012447	Abnormal myelination	9197	SLC33A1	OMIM:614482
HP:0012447	Abnormal myelination	64834	ELOVL1	OMIM:618527
HP:0012447	Abnormal myelination	6709	SPTAN1	OMIM:613477
HP:0012447	Abnormal myelination	5194	PEX13	OMIM:614883
HP:0012447	Abnormal myelination	205327	C2orf69	OMIM:619423
HP:0012447	Abnormal myelination	2752	GLUL	OMIM:620806
HP:0012447	Abnormal myelination	2752	GLUL	OMIM:610015
HP:0012447	Abnormal myelination	55770	EXOC2	OMIM:619306
HP:0012447	Abnormal myelination	79731	NARS2	OMIM:616239
HP:0012447	Abnormal myelination	27152	INTU	OMIM:617926
HP:0012447	Abnormal myelination	7074	TIAM1	OMIM:619908
HP:0012447	Abnormal myelination	9326	ZNHIT3	OMIM:260565
HP:0012447	Abnormal myelination	8898	MTMR2	OMIM:601382
HP:0012447	Abnormal myelination	84992	PIGY	ORPHA:247262
HP:0012447	Abnormal myelination	84720	PIGO	ORPHA:247262
HP:0012447	Abnormal myelination	93210	PGAP3	ORPHA:247262
HP:0012447	Abnormal myelination	284098	PIGW	ORPHA:247262
HP:0012447	Abnormal myelination	27315	PGAP2	ORPHA:247262
HP:0012447	Abnormal myelination	9487	PIGL	ORPHA:247262
HP:0012447	Abnormal myelination	160418	TMTC3	OMIM:617255
HP:0012447	Abnormal myelination	8604	SLC25A12	OMIM:612949
HP:0012447	Abnormal myelination	80232	WDR26	ORPHA:513456
HP:0012447	Abnormal myelination	2639	GCDH	OMIM:231670
HP:0012447	Abnormal myelination	55157	DARS2	ORPHA:137898
HP:0012447	Abnormal myelination	5428	POLG	ORPHA:298
HP:0012447	Abnormal myelination	1890	TYMP	ORPHA:298
HP:0012447	Abnormal myelination	3980	LIG3	ORPHA:298
HP:0012447	Abnormal myelination	50484	RRM2B	ORPHA:298
HP:0012447	Abnormal myelination	5981	RFC1	ORPHA:504476
HP:0012447	Abnormal myelination	51651	PTRH2	OMIM:616263
HP:0012447	Abnormal myelination	23312	DMXL2	ORPHA:453533
HP:0012447	Abnormal myelination	4897	NRCAM	OMIM:619833
HP:0012447	Abnormal myelination	8560	DEGS1	OMIM:618404
HP:0012447	Abnormal myelination	7841	MOGS	OMIM:606056
HP:0012447	Abnormal myelination	11145	PLAAT3	OMIM:620683
HP:0012447	Abnormal myelination	57731	SPTBN4	OMIM:617519
HP:0012447	Abnormal myelination	10939	AFG3L2	ORPHA:313772
HP:0012447	Abnormal myelination	3098	HK1	ORPHA:99953
HP:0012447	Abnormal myelination	10397	NDRG1	ORPHA:99950
HP:0012447	Abnormal myelination	4535	MT-ND1	ORPHA:255210
HP:0012447	Abnormal myelination	4536	MT-ND2	ORPHA:255210
HP:0012447	Abnormal myelination	4537	MT-ND3	ORPHA:255210
HP:0012447	Abnormal myelination	4538	MT-ND4	ORPHA:255210
HP:0012447	Abnormal myelination	4567	MT-TL1	ORPHA:255210
HP:0012447	Abnormal myelination	4578	MT-TW	ORPHA:255210
HP:0012447	Abnormal myelination	4577	MT-TV	ORPHA:255210
HP:0012447	Abnormal myelination	4508	MT-ATP6	ORPHA:255210
HP:0012447	Abnormal myelination	4540	MT-ND5	ORPHA:255210
HP:0012447	Abnormal myelination	4541	MT-ND6	ORPHA:255210
HP:0012447	Abnormal myelination	4566	MT-TK	ORPHA:255210
HP:0012447	Abnormal myelination	26278	SACS	ORPHA:98
HP:0012447	Abnormal myelination	5611	DNAJC3	ORPHA:445062
HP:0012447	Abnormal myelination	55703	POLR3B	OMIM:619742
HP:0012447	Abnormal myelination	23503	ZFYVE26	ORPHA:100996
HP:0012447	Abnormal myelination	4126	MANBA	OMIM:248510
HP:0012447	Abnormal myelination	26090	ABHD12	OMIM:612674
HP:0012447	Abnormal myelination	54332	GDAP1	ORPHA:99948
HP:0012447	Abnormal myelination	2068	ERCC2	ORPHA:220295
HP:0012447	Abnormal myelination	2073	ERCC5	ORPHA:220295
HP:0012447	Abnormal myelination	2072	ERCC4	ORPHA:220295
HP:0012447	Abnormal myelination	2071	ERCC3	ORPHA:220295
HP:0012447	Abnormal myelination	5376	PMP22	ORPHA:90658
HP:0012447	Abnormal myelination	5376	PMP22	ORPHA:101081
HP:0012447	Abnormal myelination	50	ACO2	OMIM:614559
HP:0012447	Abnormal myelination	79628	SH3TC2	ORPHA:99949
HP:0012447	Abnormal myelination	3035	HARS1	ORPHA:488333
HP:0012447	Abnormal myelination	9531	BAG3	OMIM:612954
HP:0012447	Abnormal myelination	7443	VRK1	OMIM:607596
HP:0012447	Abnormal myelination	6663	SOX10	OMIM:609136
HP:0012447	Abnormal myelination	10535	RNASEH2A	ORPHA:51
HP:0012447	Abnormal myelination	84153	RNASEH2C	ORPHA:51
HP:0012447	Abnormal myelination	25939	SAMHD1	ORPHA:51
HP:0012447	Abnormal myelination	79621	RNASEH2B	ORPHA:51
HP:0012447	Abnormal myelination	103	ADAR	ORPHA:51
HP:0012447	Abnormal myelination	11277	TREX1	ORPHA:51
HP:0012447	Abnormal myelination	100147744	RNU7-1	ORPHA:51
HP:0012447	Abnormal myelination	134353	LSM11	ORPHA:51
HP:0012447	Abnormal myelination	64135	IFIH1	ORPHA:51
HP:0012447	Abnormal myelination	165918	RNF168	ORPHA:420741
HP:0012447	Abnormal myelination	9990	SLC12A6	OMIM:218000
HP:0012447	Abnormal myelination	2670	GFAP	OMIM:203450
HP:0012447	Abnormal myelination	5654	HTRA1	OMIM:600142
HP:0012447	Abnormal myelination	3766	KCNJ10	ORPHA:199343
HP:0012447	Abnormal myelination	3766	KCNJ10	OMIM:612780
HP:0012447	Abnormal myelination	9150	CTDP1	OMIM:604168
HP:0012447	Abnormal myelination	9150	CTDP1	ORPHA:48431
HP:0012447	Abnormal myelination	8449	DHX16	OMIM:618733
HP:0012447	Abnormal myelination	112	ADCY6	OMIM:616287
HP:0012447	Abnormal myelination	246243	RNASEH1	OMIM:616479
HP:0012447	Abnormal myelination	85465	SELENOI	ORPHA:506353
HP:0012447	Abnormal myelination	57165	GJC2	OMIM:608804
HP:0012447	Abnormal myelination	4803	NGF	ORPHA:64752
HP:0012447	Abnormal myelination	4914	NTRK1	ORPHA:64752
HP:0012447	Abnormal myelination	4914	NTRK1	OMIM:256800
HP:0012447	Abnormal myelination	54872	PIGG	ORPHA:488635
HP:0012447	Abnormal myelination	79944	L2HGDH	OMIM:236792
HP:0012447	Abnormal myelination	1513	CTSK	ORPHA:763
HP:0012447	Abnormal myelination	9289	ADGRG1	OMIM:606854
HP:0012447	Abnormal myelination	9289	ADGRG1	ORPHA:101070
HP:0012447	Abnormal myelination	215	ABCD1	ORPHA:139399
HP:0012447	Abnormal myelination	3295	HSD17B4	OMIM:261515
HP:0012447	Abnormal myelination	7737	RNF113A	ORPHA:33364
HP:0012447	Abnormal myelination	136647	MPLKIP	ORPHA:33364
HP:0012447	Abnormal myelination	6897	TARS1	ORPHA:33364
HP:0012447	Abnormal myelination	2961	GTF2E2	ORPHA:33364
HP:0012447	Abnormal myelination	5728	PTEN	ORPHA:101070
HP:0012447	Abnormal myelination	57192	MCOLN1	OMIM:252650
HP:0012447	Abnormal myelination	443	ASPA	OMIM:271900
HP:0012447	Abnormal myelination	1436	CSF1R	OMIM:221820
HP:0012447	Abnormal myelination	5173	PDYN	OMIM:610245
HP:0012447	Abnormal myelination	54148	MRPL39	OMIM:620646
HP:0012447	Abnormal myelination	5824	PEX19	OMIM:614886
HP:0012447	Abnormal myelination	3643	INSR	ORPHA:769
HP:0012447	Abnormal myelination	8496	PPFIBP1	OMIM:620024
HP:0012447	Abnormal myelination	224	ALDH3A2	OMIM:270200
HP:0012447	Abnormal myelination	1967	EIF2B1	OMIM:603896
HP:0012447	Abnormal myelination	54209	TREM2	OMIM:618193
HP:0012447	Abnormal myelination	5551	PRF1	OMIM:603553
HP:0012447	Abnormal myelination	3119	HLA-DQB1	OMIM:126200
HP:0012447	Abnormal myelination	3123	HLA-DRB1	OMIM:126200
HP:0012447	Abnormal myelination	79736	TEFM	OMIM:620451
HP:0012447	Abnormal myelination	9997	SCO2	OMIM:604377
HP:0012447	Abnormal myelination	4558	MT-TF	ORPHA:550
HP:0012447	Abnormal myelination	4572	MT-TQ	ORPHA:550
HP:0012447	Abnormal myelination	4512	MT-CO1	ORPHA:550
HP:0012447	Abnormal myelination	4513	MT-CO2	ORPHA:550
HP:0012447	Abnormal myelination	4514	MT-CO3	ORPHA:550
HP:0012447	Abnormal myelination	4574	MT-TS1	ORPHA:550
HP:0012447	Abnormal myelination	4575	MT-TS2	ORPHA:550
HP:0012447	Abnormal myelination	4564	MT-TH	ORPHA:550
HP:0012447	Abnormal myelination	540	ATP7B	OMIM:277900
HP:0012447	Abnormal myelination	4747	NEFL	ORPHA:101085
HP:0012447	Abnormal myelination	1593	CYP27A1	ORPHA:909
HP:0012447	Abnormal myelination	5159	PDGFRB	OMIM:601812
HP:0012447	Abnormal myelination	6311	ATXN2	ORPHA:98756
HP:0012447	Abnormal myelination	10749	KIF1C	ORPHA:397946
HP:0012447	Abnormal myelination	10128	LRPPRC	OMIM:220111
HP:0012447	Abnormal myelination	4547	MTTP	OMIM:200100
HP:0012447	Abnormal myelination	6834	SURF1	OMIM:616684
HP:0012447	Abnormal myelination	7343	UBTF	OMIM:617672
HP:0012447	Abnormal myelination	27247	NFU1	OMIM:620938
HP:0012447	Abnormal myelination	4337	MOCS1	OMIM:252150
HP:0012447	Abnormal myelination	19	ABCA1	OMIM:205400
HP:0012447	Abnormal myelination	25974	MMACHC	ORPHA:79282
HP:0012447	Abnormal myelination	4143	MAT1A	OMIM:250850
HP:0012447	Abnormal myelination	285362	SUMF1	OMIM:272200
HP:0012447	Abnormal myelination	5660	PSAP	OMIM:249900
HP:0012447	Abnormal myelination	7305	TYROBP	OMIM:221770
HP:0012447	Abnormal myelination	10229	COQ7	OMIM:616733
HP:0012447	Abnormal myelination	79152	FA2H	ORPHA:171629
HP:0012447	Abnormal myelination	9409	PEX16	OMIM:614877
HP:0012447	Abnormal myelination	4338	MOCS2	OMIM:252160
HP:0012447	Abnormal myelination	410	ARSA	OMIM:250100
HP:0012447	Abnormal myelination	28982	FLVCR1	OMIM:609033
HP:0012447	Abnormal myelination	84987	COX14	OMIM:619053
HP:0012447	Abnormal myelination	2581	GALC	ORPHA:206443
HP:0012447	Abnormal myelination	54828	BCAS3	OMIM:619641
HP:0012447	Abnormal myelination	84706	GPT2	ORPHA:477673
HP:0012447	Abnormal myelination	57498	KIDINS220	ORPHA:521390
HP:0012447	Abnormal myelination	2548	GAA	OMIM:232300
HP:0012447	Abnormal myelination	8635	RNASET2	OMIM:612951
HP:0012447	Abnormal myelination	23729	SHPK	ORPHA:440713
HP:0012447	Abnormal myelination	5238	PGM3	OMIM:615816
HP:0012447	Abnormal myelination	3425	IDUA	OMIM:607014
HP:0012447	Abnormal myelination	65260	COA7	OMIM:618387
HP:0012447	Abnormal myelination	25782	RAB3GAP2	ORPHA:401830
HP:0012447	Abnormal myelination	51663	ZFR	ORPHA:401840
HP:0012447	Abnormal myelination	5354	PLP1	ORPHA:280210
HP:0012447	Abnormal myelination	10342	TFG	ORPHA:431329
HP:0012447	Abnormal myelination	80055	PGAP1	ORPHA:401820
HP:0012447	Abnormal myelination	374879	ZNF699	OMIM:619488
HP:0012447	Abnormal myelination	6658	SOX3	ORPHA:67045
HP:0012447	Abnormal myelination	4141	MARS1	ORPHA:401835
HP:0012447	Abnormal myelination	28962	OSTM1	ORPHA:85179
HP:0012447	Abnormal myelination	2903	GRIN2A	ORPHA:289266
HP:0012447	Abnormal myelination	55532	SLC30A10	ORPHA:309854
HP:0012447	Abnormal myelination	26005	C2CD3	ORPHA:434179
HP:0012447	Abnormal myelination	1161	ERCC8	ORPHA:90324
HP:0012447	Abnormal myelination	2074	ERCC6	ORPHA:90324
HP:0012447	Abnormal myelination	22880	MORC2	ORPHA:466768
HP:0012447	Abnormal myelination	3912	LAMB1	ORPHA:352682
HP:0012447	Abnormal myelination	3737	KCNA2	ORPHA:442835
HP:0012447	Abnormal myelination	1759	DNM1	ORPHA:442835
HP:0012447	Abnormal myelination	8120	AP3B2	ORPHA:442835
HP:0012447	Abnormal myelination	523	ATP6V1A	ORPHA:442835
HP:0012447	Abnormal myelination	10991	SLC38A3	ORPHA:442835
HP:0012447	Abnormal myelination	51343	FZR1	ORPHA:442835
HP:0012447	Abnormal myelination	3747	KCNC2	ORPHA:442835
HP:0012447	Abnormal myelination	1917	EEF1A2	ORPHA:442835
HP:0012447	Abnormal myelination	23219	FBXO28	ORPHA:442835
HP:0012447	Abnormal myelination	2561	GABRB2	ORPHA:442835
HP:0012447	Abnormal myelination	8831	SYNGAP1	ORPHA:442835
HP:0012447	Abnormal myelination	2558	GABRA5	ORPHA:442835
HP:0012447	Abnormal myelination	2906	GRIN2D	ORPHA:442835
HP:0012447	Abnormal myelination	116150	NUS1	ORPHA:442835
HP:0012447	Abnormal myelination	1213	CLTC	ORPHA:442835
HP:0012447	Abnormal myelination	51741	WWOX	ORPHA:442835
HP:0012447	Abnormal myelination	23334	SZT2	ORPHA:442835
HP:0012447	Abnormal myelination	348980	HCN1	ORPHA:442835
HP:0012447	Abnormal myelination	25977	NECAP1	ORPHA:442835
HP:0012447	Abnormal myelination	23241	PACS2	ORPHA:442835
HP:0012447	Abnormal myelination	16	AARS1	ORPHA:442835
HP:0012447	Abnormal myelination	6334	SCN8A	ORPHA:442835
HP:0012447	Abnormal myelination	9568	GABBR2	ORPHA:442835
HP:0012447	Abnormal myelination	2555	GABRA2	ORPHA:442835
HP:0012447	Abnormal myelination	55152	DALRD3	ORPHA:442835
HP:0012447	Abnormal myelination	26999	CYFIP2	ORPHA:442835
HP:0012447	Abnormal myelination	4915	NTRK2	ORPHA:442835
HP:0012447	Abnormal myelination	25973	PARS2	ORPHA:442835
HP:0012447	Abnormal myelination	23097	CDK19	ORPHA:442835
HP:0012447	Abnormal myelination	2257	FGF12	ORPHA:442835
HP:0012447	Abnormal myelination	5530	PPP3CA	ORPHA:442835
HP:0012447	Abnormal myelination	478	ATP1A3	ORPHA:442835
HP:0012447	Abnormal myelination	22906	TRAK1	ORPHA:442835
HP:0012447	Abnormal myelination	2566	GABRG2	ORPHA:442835
HP:0012447	Abnormal myelination	7532	YWHAG	ORPHA:442835
HP:0012447	Abnormal myelination	79876	UBA5	ORPHA:442835
HP:0012447	Abnormal myelination	6328	SCN3A	ORPHA:442835
HP:0012447	Abnormal myelination	781	CACNA2D1	ORPHA:442835
HP:0012447	Abnormal myelination	10659	CELF2	ORPHA:442835
HP:0012447	Abnormal myelination	774	CACNA1B	ORPHA:442835
HP:0012447	Abnormal myelination	51412	ACTL6B	ORPHA:442835
HP:0012447	Abnormal myelination	2290	FOXG1	ORPHA:442835
HP:0012447	Abnormal myelination	6506	SLC1A2	ORPHA:442835
HP:0012447	Abnormal myelination	8867	SYNJ1	ORPHA:442835
HP:0012447	Abnormal myelination	477	ATP1A2	ORPHA:442835
HP:0012447	Abnormal myelination	3745	KCNB1	ORPHA:442835
HP:0012447	Abnormal myelination	284111	SLC13A5	ORPHA:442835
HP:0012447	Abnormal myelination	22866	CNKSR2	ORPHA:442835
HP:0012447	Abnormal myelination	773	CACNA1A	ORPHA:442835
HP:0012447	Abnormal myelination	6323	SCN1A	ORPHA:442835
HP:0012447	Abnormal myelination	79947	DHDDS	ORPHA:442835
HP:0012447	Abnormal myelination	55768	NGLY1	ORPHA:404454
HP:0012447	Abnormal myelination	90952	ESAM	OMIM:620371
HP:0012447	Abnormal myelination	7528	YY1	ORPHA:506358
HP:0012447	Abnormal myelination	91949	COG7	OMIM:608779
HP:0012447	Abnormal myelination	6535	SLC6A8	OMIM:300352
HP:0012447	Abnormal myelination	10617	STAMBP	OMIM:614261
HP:0012447	Abnormal myelination	10466	COG5	ORPHA:263487
HP:0012447	Abnormal myelination	55823	VPS11	OMIM:616683
HP:0012447	Abnormal myelination	7355	SLC35A2	ORPHA:356961
HP:0012447	Abnormal myelination	85476	GFM1	OMIM:609060
HP:0012447	Abnormal myelination	6326	SCN2A	ORPHA:293181
HP:0012447	Abnormal myelination	6326	SCN2A	ORPHA:1934
HP:0012447	Abnormal myelination	57468	SLC12A5	ORPHA:293181
HP:0012447	Abnormal myelination	23236	PLCB1	ORPHA:293181
HP:0012447	Abnormal myelination	3785	KCNQ2	ORPHA:293181
HP:0012447	Abnormal myelination	57582	KCNT1	ORPHA:293181
HP:0012447	Abnormal myelination	5277	PIGA	ORPHA:293181
HP:0012447	Abnormal myelination	5277	PIGA	OMIM:300868
HP:0012447	Abnormal myelination	79751	SLC25A22	ORPHA:293181
HP:0012447	Abnormal myelination	79751	SLC25A22	OMIM:609304
HP:0012447	Abnormal myelination	79751	SLC25A22	ORPHA:1934
HP:0012447	Abnormal myelination	57465	TBC1D24	ORPHA:293181
HP:0012447	Abnormal myelination	57465	TBC1D24	OMIM:615338
HP:0012447	Abnormal myelination	23126	POGZ	ORPHA:468678
HP:0012447	Abnormal myelination	56945	MRPS22	OMIM:611719
HP:0012447	Abnormal myelination	5631	PRPS1	ORPHA:423479
HP:0012447	Abnormal myelination	1349	COX7B	OMIM:300887
HP:0012447	Abnormal myelination	6873	TAF2	ORPHA:397951
HP:0012447	Abnormal myelination	113179	ADAT3	ORPHA:363528
HP:0012447	Abnormal myelination	2782	GNB1	ORPHA:488613
HP:0012447	Abnormal myelination	2782	GNB1	OMIM:616973
HP:0012447	Abnormal myelination	27245	AHDC1	ORPHA:412069
HP:0012447	Abnormal myelination	4552	MTRR	ORPHA:2169
HP:0012447	Abnormal myelination	112939	NACC1	ORPHA:500545
HP:0012447	Abnormal myelination	55904	KMT2E	OMIM:618512
HP:0012447	Abnormal myelination	2033	EP300	ORPHA:353284
HP:0012447	Abnormal myelination	10978	CLP1	OMIM:615803
HP:0012447	Abnormal myelination	55650	PIGV	OMIM:239300
HP:0012447	Abnormal myelination	3417	IDH1	ORPHA:99646
HP:0012447	Abnormal myelination	87178	PNPT1	ORPHA:319514
HP:0012447	Abnormal myelination	7337	UBE3A	ORPHA:98794
HP:0012447	Abnormal myelination	4948	OCA2	ORPHA:98794
HP:0012447	Abnormal myelination	3192	HNRNPU	OMIM:617391
HP:0012447	Abnormal myelination	65082	VPS33A	ORPHA:505248
HP:0012447	Abnormal myelination	55906	ZC4H2	OMIM:314580
HP:0012447	Abnormal myelination	4125	MAN2B1	OMIM:248500
HP:0012447	Abnormal myelination	55572	FOXRED1	OMIM:618241
HP:0012447	Abnormal myelination	201163	FLCN	OMIM:610883
HP:0012447	Abnormal myelination	1183	CLCN4	ORPHA:485350
HP:0012447	Abnormal myelination	29968	PSAT1	ORPHA:284417
HP:0012447	Abnormal myelination	191	AHCY	ORPHA:88618
HP:0012447	Abnormal myelination	171023	ASXL1	ORPHA:97297
HP:0012447	Abnormal myelination	23028	KDM1A	ORPHA:477993
HP:0012447	Abnormal myelination	92949	ADAMTSL1	ORPHA:521445
HP:0012447	Abnormal myelination	1641	DCX	ORPHA:2148
HP:0012447	Abnormal myelination	10352	WARS2	ORPHA:572798
HP:0012447	Abnormal myelination	57531	HACE1	OMIM:616756
HP:0012447	Abnormal myelination	26227	PHGDH	ORPHA:79351
HP:0012447	Abnormal myelination	7025	NR2F1	ORPHA:401777
HP:0012447	Abnormal myelination	6905	TBCE	OMIM:241410
HP:0012447	Abnormal myelination	6711	SPTBN1	OMIM:619475
HP:0012447	Abnormal myelination	81689	ISCA1	OMIM:617613
HP:0012447	Abnormal myelination	51091	SEPSECS	OMIM:613811
HP:0012447	Abnormal myelination	6513	SLC2A1	ORPHA:168577
HP:0012447	Abnormal myelination	1528	CYB5A	ORPHA:621
HP:0012447	Abnormal myelination	1727	CYB5R3	ORPHA:621
HP:0012447	Abnormal myelination	79796	ALG9	ORPHA:79328
HP:0012447	Abnormal myelination	57459	GATAD2B	ORPHA:363686
HP:0012447	Abnormal myelination	23556	PIGN	ORPHA:280633
HP:0012447	Abnormal myelination	6857	SYT1	ORPHA:522077
HP:0012447	Abnormal myelination	5058	PAK1	OMIM:618158
HP:0012447	Abnormal myelination	440138	ALG11	ORPHA:280071
HP:0012447	Abnormal myelination	2232	FDXR	ORPHA:543470
HP:0012447	Abnormal myelination	25828	TXN2	ORPHA:478029
HP:0012447	Abnormal myelination	9373	PLAA	ORPHA:521426
HP:0012447	Abnormal myelination	84919	PPP1R15B	OMIM:616817
HP:0012447	Abnormal myelination	84919	PPP1R15B	ORPHA:391408
HP:0012447	Abnormal myelination	93587	TRMT10A	ORPHA:391408
HP:0012447	Abnormal myelination	23314	SATB2	ORPHA:576283
HP:0012447	Abnormal myelination	5373	PMM2	ORPHA:79318
HP:0012447	Abnormal myelination	23162	MAPK8IP3	OMIM:618443
HP:0012447	Abnormal myelination	440	ASNS	OMIM:615574
HP:0012447	Abnormal myelination	1387	CREBBP	ORPHA:353277
HP:0012447	Abnormal myelination	55005	RMND1	OMIM:614922
HP:0012447	Abnormal myelination	8813	DPM1	ORPHA:79322
HP:0012447	Abnormal myelination	1719	DHFR	OMIM:613839
HP:0012447	Abnormal myelination	79087	ALG12	ORPHA:79324
HP:0012447	Abnormal myelination	6567	SLC16A2	ORPHA:59
HP:0012447	Abnormal myelination	6812	STXBP1	ORPHA:599373
HP:0012447	Abnormal myelination	6576	SLC25A1	OMIM:615182
HP:0012447	Abnormal myelination	3658	IREB2	OMIM:618451
HP:0012447	Abnormal myelination	58497	PRUNE1	ORPHA:544469
HP:0012447	Abnormal myelination	51053	GMNN	OMIM:616835
HP:0012447	Abnormal myelination	5518	PPP2R1A	ORPHA:457284
HP:0012447	Abnormal myelination	11342	RNF13	ORPHA:544503
HP:0012447	Abnormal myelination	78987	CRELD1	OMIM:620771
HP:0012447	Abnormal myelination	6792	CDKL5	ORPHA:1934
HP:0012447	Abnormal myelination	3736	KCNA1	ORPHA:1934
HP:0012447	Abnormal myelination	9091	PIGQ	ORPHA:1934
HP:0012447	Abnormal myelination	140679	SLC32A1	ORPHA:1934
HP:0012447	Abnormal myelination	2775	GNAO1	ORPHA:1934
HP:0012447	Abnormal myelination	81603	TRIM8	ORPHA:1934
HP:0012447	Abnormal myelination	2902	GRIN1	ORPHA:1934
HP:0012447	Abnormal myelination	150094	SIK1	ORPHA:1934
HP:0012447	Abnormal myelination	8573	CASK	ORPHA:1934
HP:0012447	Abnormal myelination	2917	GRM7	ORPHA:1934
HP:0012447	Abnormal myelination	170302	ARX	ORPHA:1934
HP:0012447	Abnormal myelination	11284	PNKP	ORPHA:1934
HP:0012447	Abnormal myelination	51227	PIGP	ORPHA:1934
HP:0012447	Abnormal myelination	6324	SCN1B	ORPHA:1934
HP:0012447	Abnormal myelination	4761	NEUROD2	ORPHA:1934
HP:0012447	Abnormal myelination	5813	PURA	ORPHA:314655
HP:0012447	Abnormal myelination	84334	COA8	OMIM:619061
HP:0012448	Delayed myelination	199857	ALG14	OMIM:619031
HP:0012448	Delayed myelination	199857	ALG14	OMIM:619036
HP:0012448	Delayed myelination	9131	AIFM1	OMIM:300232
HP:0012448	Delayed myelination	26235	FBXL4	OMIM:615471
HP:0012448	Delayed myelination	8367	H4C5	OMIM:619950
HP:0012448	Delayed myelination	104	ADARB1	OMIM:618862
HP:0012448	Delayed myelination	375	ARF1	OMIM:618185
HP:0012448	Delayed myelination	3145	HMBS	OMIM:620704
HP:0012448	Delayed myelination	10059	DNM1L	OMIM:614388
HP:0012448	Delayed myelination	23417	MLYCD	OMIM:248360
HP:0012448	Delayed myelination	4897	NRCAM	OMIM:619833
HP:0012448	Delayed myelination	347734	SLC35B2	OMIM:620269
HP:0012448	Delayed myelination	81570	CLPB	OMIM:619835
HP:0012448	Delayed myelination	51343	FZR1	OMIM:620145
HP:0012448	Delayed myelination	51741	WWOX	OMIM:616211
HP:0012448	Delayed myelination	51506	UFC1	OMIM:618076
HP:0012448	Delayed myelination	283489	CHAMP1	OMIM:616579
HP:0012448	Delayed myelination	387787	LIPT2	OMIM:617668
HP:0012448	Delayed myelination	4010	LMX1B	ORPHA:495818
HP:0012448	Delayed myelination	478	ATP1A3	OMIM:619606
HP:0012448	Delayed myelination	166378	AFG2A	OMIM:616577
HP:0012448	Delayed myelination	10730	YME1L1	OMIM:617302
HP:0012448	Delayed myelination	375387	NRROS	OMIM:618875
HP:0012448	Delayed myelination	80055	PGAP1	OMIM:615802
HP:0012448	Delayed myelination	5610	EIF2AK2	OMIM:618877
HP:0012448	Delayed myelination	3781	KCNN2	OMIM:619725
HP:0012448	Delayed myelination	9915	ARNT2	OMIM:615926
HP:0012448	Delayed myelination	79693	YRDC	OMIM:619609
HP:0012448	Delayed myelination	7175	TPR	OMIM:620393
HP:0012448	Delayed myelination	57492	ARID1B	OMIM:135900
HP:0012448	Delayed myelination	55870	ASH1L	OMIM:617796
HP:0012448	Delayed myelination	6884	TAF13	OMIM:617432
HP:0012448	Delayed myelination	6573	SLC19A1	OMIM:620603
HP:0012448	Delayed myelination	5191	PEX7	OMIM:215100
HP:0012448	Delayed myelination	501	ALDH7A1	ORPHA:3006
HP:0012448	Delayed myelination	11212	PLPBP	ORPHA:3006
HP:0012448	Delayed myelination	652	BMP4	OMIM:607932
HP:0012448	Delayed myelination	1656	DDX6	OMIM:618653
HP:0012448	Delayed myelination	55703	POLR3B	OMIM:619742
HP:0012448	Delayed myelination	497661	C18orf32	OMIM:619985
HP:0012448	Delayed myelination	23327	NEDD4L	OMIM:617201
HP:0012448	Delayed myelination	132158	GLYCTK	OMIM:220120
HP:0012448	Delayed myelination	833	CARS1	OMIM:618891
HP:0012448	Delayed myelination	57178	ZMIZ1	OMIM:618659
HP:0012448	Delayed myelination	2783	GNB2	OMIM:619503
HP:0012448	Delayed myelination	25942	SIN3A	OMIM:613406
HP:0012448	Delayed myelination	26834	RNU4-2	OMIM:620851
HP:0012448	Delayed myelination	7915	ALDH5A1	OMIM:271980
HP:0012448	Delayed myelination	1499	CTNNB1	ORPHA:404473
HP:0012448	Delayed myelination	9653	HS2ST1	OMIM:619194
HP:0012448	Delayed myelination	1186	CLCN7	OMIM:618541
HP:0012448	Delayed myelination	1182	CLCN3	OMIM:619512
HP:0012448	Delayed myelination	1182	CLCN3	OMIM:619517
HP:0012448	Delayed myelination	149371	EXOC8	OMIM:619076
HP:0012448	Delayed myelination	54914	FOCAD	OMIM:619991
HP:0012448	Delayed myelination	56006	SMG9	OMIM:616920
HP:0012448	Delayed myelination	116115	ZNF526	OMIM:619877
HP:0012448	Delayed myelination	4191	MDH2	OMIM:617339
HP:0012448	Delayed myelination	83475	DOHH	OMIM:620066
HP:0012448	Delayed myelination	6609	SMPD1	OMIM:257200
HP:0012448	Delayed myelination	728294	D2HGDH	OMIM:600721
HP:0012448	Delayed myelination	9276	COPB2	OMIM:619884
HP:0012448	Delayed myelination	9276	COPB2	OMIM:617800
HP:0012448	Delayed myelination	7358	UGDH	OMIM:618792
HP:0012448	Delayed myelination	4849	CNOT3	OMIM:618672
HP:0012448	Delayed myelination	6506	SLC1A2	OMIM:617105
HP:0012448	Delayed myelination	9440	MED17	OMIM:613668
HP:0012448	Delayed myelination	10430	TMEM147	OMIM:620075
HP:0012448	Delayed myelination	22880	MORC2	OMIM:619090
HP:0012448	Delayed myelination	4677	NARS1	OMIM:619091
HP:0012448	Delayed myelination	7143	TNR	OMIM:619653
HP:0012448	Delayed myelination	55120	FANCL	OMIM:614083
HP:0012448	Delayed myelination	197258	FCSK	OMIM:618324
HP:0012448	Delayed myelination	85365	ALG2	OMIM:607906
HP:0012448	Delayed myelination	3798	KIF5A	OMIM:617235
HP:0012448	Delayed myelination	27086	FOXP1	OMIM:613670
HP:0012448	Delayed myelination	8218	CLTCL1	ORPHA:453510
HP:0012448	Delayed myelination	25836	NIPBL	OMIM:122470
HP:0012448	Delayed myelination	9725	TMEM63A	OMIM:618688
HP:0012448	Delayed myelination	23219	FBXO28	OMIM:619777
HP:0012448	Delayed myelination	50628	GEMIN4	OMIM:617913
HP:0012448	Delayed myelination	2146	EZH2	OMIM:277590
HP:0012448	Delayed myelination	84978	FRMD5	OMIM:620094
HP:0012448	Delayed myelination	404672	GTF2H5	OMIM:616395
HP:0012448	Delayed myelination	51645	PPIL1	OMIM:619301
HP:0012448	Delayed myelination	8295	TRRAP	OMIM:618454
HP:0012448	Delayed myelination	10159	ATP6AP2	OMIM:300423
HP:0012448	Delayed myelination	7040	TGFB1	OMIM:618213
HP:0012448	Delayed myelination	51362	CDC40	OMIM:619302
HP:0012448	Delayed myelination	133686	NADK2	OMIM:616034
HP:0012448	Delayed myelination	51693	TRAPPC2L	OMIM:618331
HP:0012448	Delayed myelination	84188	FAR1	OMIM:616154
HP:0012448	Delayed myelination	27133	KCNH5	OMIM:620537
HP:0012448	Delayed myelination	22907	DHX30	OMIM:617804
HP:0012448	Delayed myelination	11338	U2AF2	OMIM:620535
HP:0012448	Delayed myelination	51013	EXOSC1	OMIM:619304
HP:0012448	Delayed myelination	5910	RAP1GDS1	OMIM:620655
HP:0012448	Delayed myelination	2744	GLS	OMIM:618339
HP:0012448	Delayed myelination	339453	TMEM240	OMIM:607454
HP:0012448	Delayed myelination	9230	RAB11B	OMIM:617807
HP:0012448	Delayed myelination	79876	UBA5	OMIM:617132
HP:0012448	Delayed myelination	30000	TNPO2	OMIM:619556
HP:0012448	Delayed myelination	2187	FANCB	OMIM:300514
HP:0012448	Delayed myelination	2290	FOXG1	OMIM:613454
HP:0012448	Delayed myelination	54973	INTS11	OMIM:620428
HP:0012448	Delayed myelination	83548	COG3	OMIM:620546
HP:0012448	Delayed myelination	51412	ACTL6B	OMIM:618468
HP:0012448	Delayed myelination	55746	NUP133	OMIM:618349
HP:0012448	Delayed myelination	85358	SHANK3	OMIM:606232
HP:0012448	Delayed myelination	128869	PIGU	OMIM:618590
HP:0012448	Delayed myelination	7707	ZNF148	OMIM:617260
HP:0012448	Delayed myelination	5515	PPP2CA	OMIM:618354
HP:0012448	Delayed myelination	79868	ALG13	OMIM:300884
HP:0012448	Delayed myelination	51601	LIPT1	OMIM:616299
HP:0012448	Delayed myelination	473	RERE	OMIM:616975
HP:0012448	Delayed myelination	7453	WARS1	OMIM:620317
HP:0012448	Delayed myelination	23097	CDK19	OMIM:618916
HP:0012448	Delayed myelination	16	AARS1	OMIM:619691
HP:0012448	Delayed myelination	10588	MTHFS	OMIM:618367
HP:0012448	Delayed myelination	23221	RHOBTB2	OMIM:618004
HP:0012448	Delayed myelination	63925	ZNF335	OMIM:615095
HP:0012448	Delayed myelination	22930	RAB3GAP1	OMIM:600118
HP:0012448	Delayed myelination	54496	PRMT7	OMIM:617157
HP:0012448	Delayed myelination	5530	PPP3CA	OMIM:617711
HP:0012448	Delayed myelination	23511	NUP188	OMIM:618804
HP:0012448	Delayed myelination	26007	TKFC	OMIM:618805
HP:0012448	Delayed myelination	4358	MPV17	OMIM:256810
HP:0012448	Delayed myelination	3054	HCFC1	OMIM:309541
HP:0012448	Delayed myelination	3183	HNRNPC	OMIM:620688
HP:0012448	Delayed myelination	51608	GET4	OMIM:620200
HP:0012448	Delayed myelination	4594	MMUT	OMIM:251000
HP:0012448	Delayed myelination	2898	GRIK2	OMIM:619580
HP:0012448	Delayed myelination	9758	FRMPD4	OMIM:300983
HP:0012448	Delayed myelination	54664	TMEM106B	OMIM:617964
HP:0012448	Delayed myelination	6785	ELOVL4	OMIM:614457
HP:0012448	Delayed myelination	8883	NAE1	OMIM:620210
HP:0012448	Delayed myelination	64864	RFX7	OMIM:620330
HP:0012448	Delayed myelination	9997	SCO2	OMIM:604377
HP:0012448	Delayed myelination	8943	AP3D1	OMIM:617050
HP:0012448	Delayed myelination	57498	KIDINS220	OMIM:617296
HP:0012448	Delayed myelination	51095	TRNT1	OMIM:616084
HP:0012448	Delayed myelination	51501	HIKESHI	OMIM:616881
HP:0012448	Delayed myelination	94005	PIGS	OMIM:618143
HP:0012448	Delayed myelination	3747	KCNC2	OMIM:619913
HP:0012448	Delayed myelination	91461	PKDCC	OMIM:618821
HP:0012448	Delayed myelination	8452	CUL3	OMIM:619239
HP:0012448	Delayed myelination	4329	ALDH6A1	OMIM:614105
HP:0012448	Delayed myelination	3704	ITPA	OMIM:616647
HP:0012448	Delayed myelination	100147744	RNU7-1	OMIM:619487
HP:0012448	Delayed myelination	8567	MADD	OMIM:619004
HP:0012448	Delayed myelination	8567	MADD	OMIM:619005
HP:0012448	Delayed myelination	51124	IER3IP1	OMIM:614231
HP:0012448	Delayed myelination	2566	GABRG2	OMIM:618396
HP:0012448	Delayed myelination	57570	TRMT5	OMIM:616539
HP:0012448	Delayed myelination	9739	SETD1A	OMIM:618832
HP:0012448	Delayed myelination	6509	SLC1A4	OMIM:616657
HP:0012448	Delayed myelination	8911	CACNA1I	OMIM:620114
HP:0012448	Delayed myelination	617	BCS1L	OMIM:124000
HP:0012448	Delayed myelination	95	ACY1	OMIM:609924
HP:0012448	Delayed myelination	6529	SLC6A1	OMIM:616421
HP:0012448	Delayed myelination	23154	NCDN	OMIM:619373
HP:0012448	Delayed myelination	5455	POU3F3	OMIM:618604
HP:0012448	Delayed myelination	5430	POLR2A	OMIM:618603
HP:0012448	Delayed myelination	81615	TMEM163	OMIM:620243
HP:0012448	Delayed myelination	9939	RBM8A	OMIM:274000
HP:0012448	Delayed myelination	124454	EARS2	OMIM:614924
HP:0012448	Delayed myelination	10079	ATP9A	OMIM:620242
HP:0012448	Delayed myelination	2801	GOLGA2	OMIM:620240
HP:0012448	Delayed myelination	64802	NMNAT1	OMIM:619260
HP:0012448	Delayed myelination	29928	TIMM22	OMIM:618851
HP:0012448	Delayed myelination	51733	UPB1	OMIM:613161
HP:0012448	Delayed myelination	57647	DHX37	OMIM:618731
HP:0012448	Delayed myelination	23404	EXOSC2	OMIM:617763
HP:0012448	Delayed myelination	7543	ZFX	OMIM:301118
HP:0012448	Delayed myelination	221692	PHACTR1	OMIM:618298
HP:0012448	Delayed myelination	10464	PIBF1	OMIM:617767
HP:0012448	Delayed myelination	221927	BRAT1	OMIM:614498
HP:0012448	Delayed myelination	7528	YY1	ORPHA:506358
HP:0012448	Delayed myelination	91949	COG7	OMIM:608779
HP:0012448	Delayed myelination	6535	SLC6A8	OMIM:300352
HP:0012448	Delayed myelination	10617	STAMBP	OMIM:614261
HP:0012448	Delayed myelination	10466	COG5	ORPHA:263487
HP:0012448	Delayed myelination	55823	VPS11	OMIM:616683
HP:0012448	Delayed myelination	7355	SLC35A2	ORPHA:356961
HP:0012448	Delayed myelination	85476	GFM1	OMIM:609060
HP:0012448	Delayed myelination	6326	SCN2A	ORPHA:293181
HP:0012448	Delayed myelination	6326	SCN2A	ORPHA:1934
HP:0012448	Delayed myelination	57468	SLC12A5	ORPHA:293181
HP:0012448	Delayed myelination	23236	PLCB1	ORPHA:293181
HP:0012448	Delayed myelination	3785	KCNQ2	ORPHA:293181
HP:0012448	Delayed myelination	57582	KCNT1	ORPHA:293181
HP:0012448	Delayed myelination	5277	PIGA	ORPHA:293181
HP:0012448	Delayed myelination	5277	PIGA	OMIM:300868
HP:0012448	Delayed myelination	6323	SCN1A	ORPHA:293181
HP:0012448	Delayed myelination	79751	SLC25A22	ORPHA:293181
HP:0012448	Delayed myelination	79751	SLC25A22	OMIM:609304
HP:0012448	Delayed myelination	79751	SLC25A22	ORPHA:1934
HP:0012448	Delayed myelination	57465	TBC1D24	ORPHA:293181
HP:0012448	Delayed myelination	57465	TBC1D24	OMIM:615338
HP:0012448	Delayed myelination	23126	POGZ	ORPHA:468678
HP:0012448	Delayed myelination	56945	MRPS22	OMIM:611719
HP:0012448	Delayed myelination	5631	PRPS1	ORPHA:423479
HP:0012448	Delayed myelination	1349	COX7B	OMIM:300887
HP:0012448	Delayed myelination	6873	TAF2	ORPHA:397951
HP:0012448	Delayed myelination	113179	ADAT3	ORPHA:363528
HP:0012448	Delayed myelination	2782	GNB1	ORPHA:488613
HP:0012448	Delayed myelination	2782	GNB1	OMIM:616973
HP:0012448	Delayed myelination	27245	AHDC1	ORPHA:412069
HP:0012448	Delayed myelination	4552	MTRR	ORPHA:2169
HP:0012448	Delayed myelination	112939	NACC1	ORPHA:500545
HP:0012448	Delayed myelination	55904	KMT2E	OMIM:618512
HP:0012448	Delayed myelination	2033	EP300	ORPHA:353284
HP:0012448	Delayed myelination	10978	CLP1	OMIM:615803
HP:0012448	Delayed myelination	55768	NGLY1	ORPHA:404454
HP:0012448	Delayed myelination	55768	NGLY1	OMIM:615273
HP:0012448	Delayed myelination	55650	PIGV	OMIM:239300
HP:0012448	Delayed myelination	3417	IDH1	ORPHA:99646
HP:0012448	Delayed myelination	87178	PNPT1	ORPHA:319514
HP:0012448	Delayed myelination	7337	UBE3A	ORPHA:98794
HP:0012448	Delayed myelination	4948	OCA2	ORPHA:98794
HP:0012448	Delayed myelination	3192	HNRNPU	OMIM:617391
HP:0012448	Delayed myelination	65082	VPS33A	ORPHA:505248
HP:0012448	Delayed myelination	55906	ZC4H2	OMIM:314580
HP:0012448	Delayed myelination	4125	MAN2B1	OMIM:248500
HP:0012448	Delayed myelination	55572	FOXRED1	OMIM:618241
HP:0012448	Delayed myelination	4915	NTRK2	OMIM:617830
HP:0012448	Delayed myelination	4915	NTRK2	OMIM:613886
HP:0012448	Delayed myelination	201163	FLCN	OMIM:610883
HP:0012448	Delayed myelination	1183	CLCN4	ORPHA:485350
HP:0012448	Delayed myelination	29968	PSAT1	ORPHA:284417
HP:0012448	Delayed myelination	191	AHCY	ORPHA:88618
HP:0012448	Delayed myelination	171023	ASXL1	ORPHA:97297
HP:0012448	Delayed myelination	23028	KDM1A	ORPHA:477993
HP:0012448	Delayed myelination	92949	ADAMTSL1	ORPHA:521445
HP:0012448	Delayed myelination	1641	DCX	ORPHA:2148
HP:0012448	Delayed myelination	10352	WARS2	ORPHA:572798
HP:0012448	Delayed myelination	57531	HACE1	OMIM:616756
HP:0012448	Delayed myelination	26227	PHGDH	ORPHA:79351
HP:0012448	Delayed myelination	2074	ERCC6	OMIM:214150
HP:0012448	Delayed myelination	7025	NR2F1	ORPHA:401777
HP:0012448	Delayed myelination	6905	TBCE	OMIM:241410
HP:0012448	Delayed myelination	6711	SPTBN1	OMIM:619475
HP:0012448	Delayed myelination	81689	ISCA1	OMIM:617613
HP:0012448	Delayed myelination	1213	CLTC	OMIM:617854
HP:0012448	Delayed myelination	51091	SEPSECS	OMIM:613811
HP:0012448	Delayed myelination	6513	SLC2A1	ORPHA:168577
HP:0012448	Delayed myelination	1528	CYB5A	ORPHA:621
HP:0012448	Delayed myelination	1727	CYB5R3	ORPHA:621
HP:0012448	Delayed myelination	79796	ALG9	ORPHA:79328
HP:0012448	Delayed myelination	57459	GATAD2B	ORPHA:363686
HP:0012448	Delayed myelination	23556	PIGN	ORPHA:280633
HP:0012448	Delayed myelination	6857	SYT1	ORPHA:522077
HP:0012448	Delayed myelination	5058	PAK1	OMIM:618158
HP:0012448	Delayed myelination	440138	ALG11	ORPHA:280071
HP:0012448	Delayed myelination	2232	FDXR	ORPHA:543470
HP:0012448	Delayed myelination	25828	TXN2	ORPHA:478029
HP:0012448	Delayed myelination	9373	PLAA	ORPHA:521426
HP:0012448	Delayed myelination	64135	IFIH1	OMIM:615846
HP:0012448	Delayed myelination	84919	PPP1R15B	OMIM:616817
HP:0012448	Delayed myelination	84919	PPP1R15B	ORPHA:391408
HP:0012448	Delayed myelination	93587	TRMT10A	ORPHA:391408
HP:0012448	Delayed myelination	23314	SATB2	ORPHA:576283
HP:0012448	Delayed myelination	5373	PMM2	ORPHA:79318
HP:0012448	Delayed myelination	23162	MAPK8IP3	OMIM:618443
HP:0012448	Delayed myelination	440	ASNS	OMIM:615574
HP:0012448	Delayed myelination	1387	CREBBP	ORPHA:353277
HP:0012448	Delayed myelination	55005	RMND1	OMIM:614922
HP:0012448	Delayed myelination	8813	DPM1	ORPHA:79322
HP:0012448	Delayed myelination	1719	DHFR	OMIM:613839
HP:0012448	Delayed myelination	84153	RNASEH2C	OMIM:610329
HP:0012448	Delayed myelination	79087	ALG12	ORPHA:79324
HP:0012448	Delayed myelination	6567	SLC16A2	ORPHA:59
HP:0012448	Delayed myelination	6812	STXBP1	ORPHA:599373
HP:0012448	Delayed myelination	6576	SLC25A1	OMIM:615182
HP:0012448	Delayed myelination	3658	IREB2	OMIM:618451
HP:0012448	Delayed myelination	58497	PRUNE1	ORPHA:544469
HP:0012448	Delayed myelination	51053	GMNN	OMIM:616835
HP:0012448	Delayed myelination	5518	PPP2R1A	ORPHA:457284
HP:0012448	Delayed myelination	11342	RNF13	ORPHA:544503
HP:0012448	Delayed myelination	284111	SLC13A5	OMIM:615905
HP:0012448	Delayed myelination	78987	CRELD1	OMIM:620771
HP:0012448	Delayed myelination	6792	CDKL5	ORPHA:1934
HP:0012448	Delayed myelination	3736	KCNA1	ORPHA:1934
HP:0012448	Delayed myelination	9091	PIGQ	ORPHA:1934
HP:0012448	Delayed myelination	140679	SLC32A1	ORPHA:1934
HP:0012448	Delayed myelination	2775	GNAO1	ORPHA:1934
HP:0012448	Delayed myelination	81603	TRIM8	ORPHA:1934
HP:0012448	Delayed myelination	2902	GRIN1	ORPHA:1934
HP:0012448	Delayed myelination	150094	SIK1	ORPHA:1934
HP:0012448	Delayed myelination	8573	CASK	ORPHA:1934
HP:0012448	Delayed myelination	23312	DMXL2	ORPHA:1934
HP:0012448	Delayed myelination	2917	GRM7	ORPHA:1934
HP:0012448	Delayed myelination	170302	ARX	ORPHA:1934
HP:0012448	Delayed myelination	11284	PNKP	ORPHA:1934
HP:0012448	Delayed myelination	51227	PIGP	ORPHA:1934
HP:0012448	Delayed myelination	6324	SCN1B	ORPHA:1934
HP:0012448	Delayed myelination	4761	NEUROD2	ORPHA:1934
HP:0012448	Delayed myelination	5813	PURA	ORPHA:314655
HP:0012449	Sacroiliac joint synovitis	5251	PHEX	ORPHA:89936
HP:0033279	Enterocutaneous fistula	3588	IL10RB	OMIM:612567
HP:0033278	Reduced CD95-induced lymphocyte apoptosis	841	CASP8	OMIM:607271
HP:0002121	Generalized non-motor (absence) seizure	6323	SCN1A	OMIM:607208
HP:0002121	Generalized non-motor (absence) seizure	6323	SCN1A	OMIM:619317
HP:0002121	Generalized non-motor (absence) seizure	6323	SCN1A	ORPHA:36387
HP:0002121	Generalized non-motor (absence) seizure	6323	SCN1A	OMIM:604403
HP:0002121	Generalized non-motor (absence) seizure	6323	SCN1A	ORPHA:1942
HP:0002121	Generalized non-motor (absence) seizure	57526	PCDH19	ORPHA:101039
HP:0002121	Generalized non-motor (absence) seizure	57526	PCDH19	OMIM:300088
HP:0002121	Generalized non-motor (absence) seizure	84706	GPT2	OMIM:616281
HP:0002121	Generalized non-motor (absence) seizure	4524	MTHFR	ORPHA:395
HP:0002121	Generalized non-motor (absence) seizure	4791	NFKB2	ORPHA:293978
HP:0002121	Generalized non-motor (absence) seizure	26960	NBEA	OMIM:619157
HP:0002121	Generalized non-motor (absence) seizure	340533	NEXMIF	OMIM:300912
HP:0002121	Generalized non-motor (absence) seizure	340533	NEXMIF	ORPHA:1942
HP:0002121	Generalized non-motor (absence) seizure	57468	SLC12A5	OMIM:616685
HP:0002121	Generalized non-motor (absence) seizure	348980	HCN1	OMIM:615871
HP:0002121	Generalized non-motor (absence) seizure	348980	HCN1	OMIM:618482
HP:0002121	Generalized non-motor (absence) seizure	348980	HCN1	ORPHA:36387
HP:0002121	Generalized non-motor (absence) seizure	8733	GPAA1	OMIM:617810
HP:0002121	Generalized non-motor (absence) seizure	114327	EFHC1	OMIM:254770
HP:0002121	Generalized non-motor (absence) seizure	114327	EFHC1	ORPHA:307
HP:0002121	Generalized non-motor (absence) seizure	114327	EFHC1	OMIM:607631
HP:0002121	Generalized non-motor (absence) seizure	114327	EFHC1	ORPHA:1941
HP:0002121	Generalized non-motor (absence) seizure	23334	SZT2	OMIM:615476
HP:0002121	Generalized non-motor (absence) seizure	11133	KPTN	OMIM:615637
HP:0002121	Generalized non-motor (absence) seizure	781	CACNA2D1	OMIM:620149
HP:0002121	Generalized non-motor (absence) seizure	2563	GABRD	ORPHA:307
HP:0002121	Generalized non-motor (absence) seizure	2563	GABRD	OMIM:613060
HP:0002121	Generalized non-motor (absence) seizure	2563	GABRD	ORPHA:36387
HP:0002121	Generalized non-motor (absence) seizure	1181	CLCN2	ORPHA:307
HP:0002121	Generalized non-motor (absence) seizure	1181	CLCN2	OMIM:607628
HP:0002121	Generalized non-motor (absence) seizure	2554	GABRA1	ORPHA:307
HP:0002121	Generalized non-motor (absence) seizure	2554	GABRA1	OMIM:615744
HP:0002121	Generalized non-motor (absence) seizure	3786	KCNQ3	ORPHA:307
HP:0002121	Generalized non-motor (absence) seizure	3786	KCNQ3	ORPHA:306
HP:0002121	Generalized non-motor (absence) seizure	22858	CILK1	ORPHA:307
HP:0002121	Generalized non-motor (absence) seizure	22858	CILK1	OMIM:617924
HP:0002121	Generalized non-motor (absence) seizure	8629	JRK	ORPHA:307
HP:0002121	Generalized non-motor (absence) seizure	785	CACNB4	ORPHA:307
HP:0002121	Generalized non-motor (absence) seizure	785	CACNB4	OMIM:607682
HP:0002121	Generalized non-motor (absence) seizure	6334	SCN8A	ORPHA:306
HP:0002121	Generalized non-motor (absence) seizure	6334	SCN8A	OMIM:614558
HP:0002121	Generalized non-motor (absence) seizure	6326	SCN2A	ORPHA:306
HP:0002121	Generalized non-motor (absence) seizure	6326	SCN2A	ORPHA:36387
HP:0002121	Generalized non-motor (absence) seizure	6326	SCN2A	ORPHA:1934
HP:0002121	Generalized non-motor (absence) seizure	112476	PRRT2	ORPHA:306
HP:0002121	Generalized non-motor (absence) seizure	112476	PRRT2	ORPHA:98811
HP:0002121	Generalized non-motor (absence) seizure	112476	PRRT2	ORPHA:36387
HP:0002121	Generalized non-motor (absence) seizure	3785	KCNQ2	ORPHA:306
HP:0002121	Generalized non-motor (absence) seizure	79813	EHMT1	ORPHA:96147
HP:0002121	Generalized non-motor (absence) seizure	79813	EHMT1	OMIM:610253
HP:0002121	Generalized non-motor (absence) seizure	6709	SPTAN1	OMIM:620540
HP:0002121	Generalized non-motor (absence) seizure	4076	CAPRIN1	OMIM:620782
HP:0002121	Generalized non-motor (absence) seizure	2566	GABRG2	OMIM:607681
HP:0002121	Generalized non-motor (absence) seizure	2566	GABRG2	ORPHA:36387
HP:0002121	Generalized non-motor (absence) seizure	64324	NSD1	ORPHA:821
HP:0002121	Generalized non-motor (absence) seizure	10297	APC2	ORPHA:821
HP:0002121	Generalized non-motor (absence) seizure	80232	WDR26	ORPHA:513456
HP:0002121	Generalized non-motor (absence) seizure	54344	DPM3	OMIM:618992
HP:0002121	Generalized non-motor (absence) seizure	5515	PPP2CA	OMIM:618354
HP:0002121	Generalized non-motor (absence) seizure	387119	CEP85L	OMIM:618873
HP:0002121	Generalized non-motor (absence) seizure	24137	KIF4A	OMIM:300923
HP:0002121	Generalized non-motor (absence) seizure	6096	RORB	OMIM:618357
HP:0002121	Generalized non-motor (absence) seizure	112755	STX1B	OMIM:616172
HP:0002121	Generalized non-motor (absence) seizure	112755	STX1B	ORPHA:36387
HP:0002121	Generalized non-motor (absence) seizure	51741	WWOX	OMIM:616211
HP:0002121	Generalized non-motor (absence) seizure	1106	CHD2	OMIM:615369
HP:0002121	Generalized non-motor (absence) seizure	1106	CHD2	ORPHA:1942
HP:0002121	Generalized non-motor (absence) seizure	478	ATP1A3	OMIM:619606
HP:0002121	Generalized non-motor (absence) seizure	2782	GNB1	OMIM:616973
HP:0002121	Generalized non-motor (absence) seizure	7532	YWHAG	OMIM:617665
HP:0002121	Generalized non-motor (absence) seizure	80055	PGAP1	OMIM:615802
HP:0002121	Generalized non-motor (absence) seizure	1476	CSTB	OMIM:254800
HP:0002121	Generalized non-motor (absence) seizure	846	CASR	OMIM:612899
HP:0002121	Generalized non-motor (absence) seizure	55768	NGLY1	ORPHA:404454
HP:0002121	Generalized non-motor (absence) seizure	3908	LAMA2	ORPHA:258
HP:0002121	Generalized non-motor (absence) seizure	3778	KCNMA1	ORPHA:79137
HP:0002121	Generalized non-motor (absence) seizure	3778	KCNMA1	OMIM:609446
HP:0002121	Generalized non-motor (absence) seizure	3778	KCNMA1	OMIM:618729
HP:0002121	Generalized non-motor (absence) seizure	347733	TUBB2B	ORPHA:467166
HP:0002121	Generalized non-motor (absence) seizure	7846	TUBA1A	ORPHA:467166
HP:0002121	Generalized non-motor (absence) seizure	10381	TUBB3	ORPHA:467166
HP:0002121	Generalized non-motor (absence) seizure	6609	SMPD1	ORPHA:77293
HP:0002121	Generalized non-motor (absence) seizure	3899	AFF3	OMIM:619297
HP:0002121	Generalized non-motor (absence) seizure	80224	NUBPL	OMIM:618242
HP:0002121	Generalized non-motor (absence) seizure	166378	AFG2A	ORPHA:457351
HP:0002121	Generalized non-motor (absence) seizure	79029	AFG2B	OMIM:619616
HP:0002121	Generalized non-motor (absence) seizure	116150	NUS1	OMIM:617831
HP:0002121	Generalized non-motor (absence) seizure	815	CAMK2A	OMIM:617798
HP:0002121	Generalized non-motor (absence) seizure	2664	GDI1	OMIM:300849
HP:0002121	Generalized non-motor (absence) seizure	2562	GABRB3	OMIM:612269
HP:0002121	Generalized non-motor (absence) seizure	2770	GNAI1	OMIM:619854
HP:0002121	Generalized non-motor (absence) seizure	27315	PGAP2	OMIM:614207
HP:0002121	Generalized non-motor (absence) seizure	84188	FAR1	OMIM:619338
HP:0002121	Generalized non-motor (absence) seizure	1183	CLCN4	ORPHA:485350
HP:0002121	Generalized non-motor (absence) seizure	9570	GOSR2	OMIM:620166
HP:0002121	Generalized non-motor (absence) seizure	9570	GOSR2	OMIM:614018
HP:0002121	Generalized non-motor (absence) seizure	23327	NEDD4L	OMIM:617201
HP:0002121	Generalized non-motor (absence) seizure	23152	CIC	OMIM:617600
HP:0002121	Generalized non-motor (absence) seizure	4915	NTRK2	OMIM:613886
HP:0002121	Generalized non-motor (absence) seizure	1954	MEGF8	OMIM:614976
HP:0002121	Generalized non-motor (absence) seizure	6304	SATB1	OMIM:619229
HP:0002121	Generalized non-motor (absence) seizure	2903	GRIN2A	ORPHA:98818
HP:0002121	Generalized non-motor (absence) seizure	26227	PHGDH	ORPHA:79351
HP:0002121	Generalized non-motor (absence) seizure	6513	SLC2A1	ORPHA:98811
HP:0002121	Generalized non-motor (absence) seizure	6513	SLC2A1	ORPHA:1942
HP:0002121	Generalized non-motor (absence) seizure	1974	EIF4A2	OMIM:620455
HP:0002121	Generalized non-motor (absence) seizure	6335	SCN9A	ORPHA:36387
HP:0002121	Generalized non-motor (absence) seizure	6324	SCN1B	ORPHA:36387
HP:0002121	Generalized non-motor (absence) seizure	6324	SCN1B	OMIM:604233
HP:0002121	Generalized non-motor (absence) seizure	6324	SCN1B	ORPHA:1934
HP:0002121	Generalized non-motor (absence) seizure	2258	FGF13	ORPHA:36387
HP:0002121	Generalized non-motor (absence) seizure	84059	ADGRV1	ORPHA:36387
HP:0002121	Generalized non-motor (absence) seizure	64864	RFX7	OMIM:620330
HP:0002121	Generalized non-motor (absence) seizure	7915	ALDH5A1	OMIM:271980
HP:0002121	Generalized non-motor (absence) seizure	2746	GLUD1	ORPHA:35878
HP:0002121	Generalized non-motor (absence) seizure	23316	CUX2	OMIM:618141
HP:0002121	Generalized non-motor (absence) seizure	51604	PIGT	OMIM:615398
HP:0002121	Generalized non-motor (absence) seizure	51604	PIGT	ORPHA:369837
HP:0002121	Generalized non-motor (absence) seizure	5063	PAK3	OMIM:300558
HP:0002121	Generalized non-motor (absence) seizure	3747	KCNC2	OMIM:619913
HP:0002121	Generalized non-motor (absence) seizure	23443	SLC35A3	OMIM:615553
HP:0002121	Generalized non-motor (absence) seizure	23443	SLC35A3	ORPHA:370943
HP:0002121	Generalized non-motor (absence) seizure	23040	MYT1L	OMIM:616521
HP:0002121	Generalized non-motor (absence) seizure	85440	DOCK7	ORPHA:411986
HP:0002121	Generalized non-motor (absence) seizure	527	ATP6V0C	OMIM:620465
HP:0002121	Generalized non-motor (absence) seizure	80036	TRPM3	OMIM:620224
HP:0002121	Generalized non-motor (absence) seizure	378884	NHLRC1	ORPHA:501
HP:0002121	Generalized non-motor (absence) seizure	7957	EPM2A	ORPHA:501
HP:0002121	Generalized non-motor (absence) seizure	7957	EPM2A	OMIM:254780
HP:0002121	Generalized non-motor (absence) seizure	57459	GATAD2B	ORPHA:363686
HP:0002121	Generalized non-motor (absence) seizure	6595	SMARCA2	ORPHA:3051
HP:0002121	Generalized non-motor (absence) seizure	55210	ATAD3A	OMIM:617183
HP:0002121	Generalized non-motor (absence) seizure	10472	ZBTB18	OMIM:612337
HP:0002121	Generalized non-motor (absence) seizure	23031	MAST3	OMIM:620115
HP:0002121	Generalized non-motor (absence) seizure	2556	GABRA3	OMIM:301091
HP:0002121	Generalized non-motor (absence) seizure	6529	SLC6A1	OMIM:616421
HP:0002121	Generalized non-motor (absence) seizure	6529	SLC6A1	ORPHA:1942
HP:0002121	Generalized non-motor (absence) seizure	6651	SON	ORPHA:500150
HP:0002121	Generalized non-motor (absence) seizure	10743	RAI1	OMIM:182290
HP:0002121	Generalized non-motor (absence) seizure	100151683	RNU4ATAC	ORPHA:2636
HP:0002121	Generalized non-motor (absence) seizure	2146	EZH2	OMIM:277590
HP:0002121	Generalized non-motor (absence) seizure	1719	DHFR	OMIM:613839
HP:0002121	Generalized non-motor (absence) seizure	8831	SYNGAP1	ORPHA:1942
HP:0002121	Generalized non-motor (absence) seizure	1173	AP2M1	ORPHA:1942
HP:0002121	Generalized non-motor (absence) seizure	54936	ADPRS	OMIM:618170
HP:0002121	Generalized non-motor (absence) seizure	4204	MECP2	OMIM:300260
HP:0002121	Generalized non-motor (absence) seizure	1893	ECM1	OMIM:247100
HP:0002121	Generalized non-motor (absence) seizure	8621	CDK13	OMIM:617360
HP:0002121	Generalized non-motor (absence) seizure	93183	PIGM	OMIM:610293
HP:0002121	Generalized non-motor (absence) seizure	7543	ZFX	OMIM:301118
HP:0002121	Generalized non-motor (absence) seizure	93587	TRMT10A	OMIM:616033
HP:0002121	Generalized non-motor (absence) seizure	2752	GLUL	OMIM:620806
HP:0002121	Generalized non-motor (absence) seizure	2703	GJA8	OMIM:612474
HP:0002121	Generalized non-motor (absence) seizure	2702	GJA5	OMIM:612474
HP:0002121	Generalized non-motor (absence) seizure	27133	KCNH5	OMIM:620537
HP:0002121	Generalized non-motor (absence) seizure	6792	CDKL5	ORPHA:1934
HP:0002121	Generalized non-motor (absence) seizure	3736	KCNA1	ORPHA:1934
HP:0002121	Generalized non-motor (absence) seizure	9091	PIGQ	ORPHA:1934
HP:0002121	Generalized non-motor (absence) seizure	140679	SLC32A1	ORPHA:1934
HP:0002121	Generalized non-motor (absence) seizure	2775	GNAO1	ORPHA:1934
HP:0002121	Generalized non-motor (absence) seizure	81603	TRIM8	ORPHA:1934
HP:0002121	Generalized non-motor (absence) seizure	2902	GRIN1	ORPHA:1934
HP:0002121	Generalized non-motor (absence) seizure	79751	SLC25A22	ORPHA:1934
HP:0002121	Generalized non-motor (absence) seizure	150094	SIK1	ORPHA:1934
HP:0002121	Generalized non-motor (absence) seizure	8573	CASK	ORPHA:1934
HP:0002121	Generalized non-motor (absence) seizure	23312	DMXL2	ORPHA:1934
HP:0002121	Generalized non-motor (absence) seizure	2917	GRM7	ORPHA:1934
HP:0002121	Generalized non-motor (absence) seizure	170302	ARX	ORPHA:1934
HP:0002121	Generalized non-motor (absence) seizure	11284	PNKP	ORPHA:1934
HP:0002121	Generalized non-motor (absence) seizure	51227	PIGP	ORPHA:1934
HP:0002121	Generalized non-motor (absence) seizure	4761	NEUROD2	ORPHA:1934
HP:0002121	Generalized non-motor (absence) seizure	7337	UBE3A	ORPHA:98795
HP:0002121	Generalized non-motor (absence) seizure	3192	HNRNPU	OMIM:617391
HP:0002121	Generalized non-motor (absence) seizure	343450	KCNT2	OMIM:617771
HP:0002121	Generalized non-motor (absence) seizure	5530	PPP3CA	OMIM:617711
HP:0002121	Generalized non-motor (absence) seizure	1759	DNM1	OMIM:616346
HP:0002121	Generalized non-motor (absence) seizure	1759	DNM1	ORPHA:2382
HP:0002121	Generalized non-motor (absence) seizure	81570	CLPB	OMIM:619835
HP:0002121	Generalized non-motor (absence) seizure	23732	FRRS1L	ORPHA:725
HP:0002121	Generalized non-motor (absence) seizure	5048	PAFAH1B1	ORPHA:95232
HP:0002121	Generalized non-motor (absence) seizure	27286	SRPX2	ORPHA:1945
HP:0002121	Generalized non-motor (absence) seizure	9839	ZEB2	ORPHA:261537
HP:0002121	Generalized non-motor (absence) seizure	9839	ZEB2	ORPHA:261552
HP:0002121	Generalized non-motor (absence) seizure	5602	MAPK10	ORPHA:2382
HP:0002121	Generalized non-motor (absence) seizure	773	CACNA1A	ORPHA:2382
HP:0002121	Generalized non-motor (absence) seizure	3745	KCNB1	OMIM:616056
HP:0002121	Generalized non-motor (absence) seizure	78987	CRELD1	OMIM:620771
HP:0002121	Generalized non-motor (absence) seizure	161725	OTUD7A	OMIM:620790
HP:0002121	Generalized non-motor (absence) seizure	23314	SATB2	ORPHA:576283
HP:0002121	Generalized non-motor (absence) seizure	7840	ALMS1	ORPHA:64
HP:0002121	Generalized non-motor (absence) seizure	427	ASAH1	ORPHA:2590
HP:0002121	Generalized non-motor (absence) seizure	8912	CACNA1H	ORPHA:64280
HP:0002121	Generalized non-motor (absence) seizure	1281	COL3A1	OMIM:618343
HP:0002121	Generalized non-motor (absence) seizure	9698	PUM1	OMIM:620719
HP:0002121	Generalized non-motor (absence) seizure	1859	DYRK1A	ORPHA:268261
HP:0002121	Generalized non-motor (absence) seizure	54496	PRMT7	OMIM:617157
HP:0002121	Generalized non-motor (absence) seizure	23394	ADNP	OMIM:615873
HP:0002121	Generalized non-motor (absence) seizure	23219	FBXO28	OMIM:619777
HP:0002121	Generalized non-motor (absence) seizure	3183	HNRNPC	OMIM:620688
HP:0002121	Generalized non-motor (absence) seizure	51322	WAC	ORPHA:466950
HP:0002121	Generalized non-motor (absence) seizure	1917	EEF1A2	OMIM:616409
HP:0002121	Generalized non-motor (absence) seizure	10295	BCKDK	OMIM:614923
HP:0002121	Generalized non-motor (absence) seizure	51343	FZR1	OMIM:620145
HP:0002121	Generalized non-motor (absence) seizure	3190	HNRNPK	ORPHA:352665
HP:0002121	Generalized non-motor (absence) seizure	3190	HNRNPK	ORPHA:453504
HP:0002121	Generalized non-motor (absence) seizure	9289	ADGRG1	ORPHA:101070
HP:0002121	Generalized non-motor (absence) seizure	5728	PTEN	ORPHA:101070
HP:0002121	Generalized non-motor (absence) seizure	79947	DHDDS	OMIM:617836
HP:0002121	Generalized non-motor (absence) seizure	23067	SETD1B	OMIM:619000
HP:0002121	Generalized non-motor (absence) seizure	133686	NADK2	OMIM:616034
HP:0002121	Generalized non-motor (absence) seizure	8659	ALDH4A1	ORPHA:79101
HP:0002121	Generalized non-motor (absence) seizure	8813	DPM1	ORPHA:79322
HP:0002121	Generalized non-motor (absence) seizure	501	ALDH7A1	ORPHA:3006
HP:0002121	Generalized non-motor (absence) seizure	11212	PLPBP	ORPHA:3006
HP:0006938	Impaired vibration sensation at ankles	3752	KCND3	ORPHA:98772
HP:0006938	Impaired vibration sensation at ankles	5832	ALDH18A1	ORPHA:447760
HP:0006938	Impaired vibration sensation at ankles	2583	B4GALNT1	ORPHA:101006
HP:0006938	Impaired vibration sensation at ankles	23111	SPART	OMIM:275900
HP:0006938	Impaired vibration sensation at ankles	215	ABCD1	OMIM:300100
HP:0006938	Impaired vibration sensation at ankles	51308	REEP2	ORPHA:401849
HP:0006938	Impaired vibration sensation at ankles	7504	XK	OMIM:300842
HP:0006938	Impaired vibration sensation at ankles	8913	CACNA1G	ORPHA:458803
HP:0006938	Impaired vibration sensation at ankles	8913	CACNA1G	OMIM:616795
HP:0006938	Impaired vibration sensation at ankles	7345	UCHL1	OMIM:615491
HP:0006938	Impaired vibration sensation at ankles	6683	SPAST	ORPHA:100985
HP:0006938	Impaired vibration sensation at ankles	271	AMPD2	OMIM:615686
HP:0006938	Impaired vibration sensation at ankles	57704	GBA2	ORPHA:320391
HP:0006938	Impaired vibration sensation at ankles	5582	PRKCG	OMIM:605361
HP:0002341	Cervical cord compression	1311	COMP	OMIM:177170
HP:0002341	Cervical cord compression	2137	EXTL3	ORPHA:508533
HP:0002341	Cervical cord compression	1387	CREBBP	ORPHA:353277
HP:0002341	Cervical cord compression	1387	CREBBP	ORPHA:353281
HP:0002341	Cervical cord compression	6023	RMRP	OMIM:607095
HP:0002341	Cervical cord compression	4784	NFIX	OMIM:602535
HP:0002341	Cervical cord compression	2033	EP300	ORPHA:353284
HP:0002341	Cervical cord compression	3425	IDUA	OMIM:607016
HP:0002341	Cervical cord compression	3423	IDS	OMIM:309900
HP:0002341	Cervical cord compression	415	ARSL	ORPHA:79345
HP:0007146	Bilateral basal ganglia lesions	91869	RFT1	ORPHA:244310
HP:0007146	Bilateral basal ganglia lesions	131118	DNAJC19	ORPHA:66634
HP:0007146	Bilateral basal ganglia lesions	1355	COX15	OMIM:615119
HP:0007149	Distal upper limb amyotrophy	2617	GARS1	OMIM:600794
HP:0007149	Distal upper limb amyotrophy	2617	GARS1	ORPHA:139536
HP:0007149	Distal upper limb amyotrophy	2617	GARS1	OMIM:601472
HP:0007149	Distal upper limb amyotrophy	65055	REEP1	ORPHA:139536
HP:0007149	Distal upper limb amyotrophy	65055	REEP1	OMIM:614751
HP:0007149	Distal upper limb amyotrophy	4703	NEB	OMIM:256030
HP:0007149	Distal upper limb amyotrophy	1311	COMP	OMIM:619161
HP:0007149	Distal upper limb amyotrophy	91252	SLC39A13	ORPHA:157965
HP:0007149	Distal upper limb amyotrophy	91252	SLC39A13	OMIM:612350
HP:0007149	Distal upper limb amyotrophy	8985	PLOD3	OMIM:612394
HP:0007149	Distal upper limb amyotrophy	8884	SLC5A6	OMIM:619903
HP:0007149	Distal upper limb amyotrophy	5165	PDK3	ORPHA:352675
HP:0007149	Distal upper limb amyotrophy	3710	ITPR3	OMIM:620111
HP:0007149	Distal upper limb amyotrophy	3425	IDUA	OMIM:607015
HP:0007149	Distal upper limb amyotrophy	9898	UBAP2L	OMIM:620494
HP:0007149	Distal upper limb amyotrophy	80208	SPG11	OMIM:604360
HP:0007149	Distal upper limb amyotrophy	8729	GBF1	OMIM:606483
HP:0007149	Distal upper limb amyotrophy	59345	GNB4	OMIM:615185
HP:0007149	Distal upper limb amyotrophy	7143	TNR	OMIM:619653
HP:0007149	Distal upper limb amyotrophy	10516	FBLN5	OMIM:619764
HP:0007149	Distal upper limb amyotrophy	65250	CPLANE1	ORPHA:65684
HP:0007149	Distal upper limb amyotrophy	57562	CEP126	ORPHA:65684
HP:0007149	Distal upper limb amyotrophy	2705	GJB1	OMIM:302800
HP:0007149	Distal upper limb amyotrophy	2705	GJB1	ORPHA:101075
HP:0007149	Distal upper limb amyotrophy	2318	FLNC	OMIM:614065
HP:0007149	Distal upper limb amyotrophy	8988	HSPB3	OMIM:613376
HP:0007149	Distal upper limb amyotrophy	64423	INF2	OMIM:614455
HP:0007149	Distal upper limb amyotrophy	59341	TRPV4	OMIM:606071
HP:0007149	Distal upper limb amyotrophy	7453	WARS1	OMIM:617721
HP:0007149	Distal upper limb amyotrophy	57863	CADM3	OMIM:619519
HP:0007149	Distal upper limb amyotrophy	8291	DYSF	ORPHA:45448
HP:0007149	Distal upper limb amyotrophy	8878	SQSTM1	ORPHA:603
HP:0007149	Distal upper limb amyotrophy	7072	TIA1	ORPHA:603
HP:0007149	Distal upper limb amyotrophy	4000	LMNA	ORPHA:98856
HP:0007149	Distal upper limb amyotrophy	4747	NEFL	ORPHA:101085
HP:0007149	Distal upper limb amyotrophy	9990	SLC12A6	OMIM:620068
HP:0007149	Distal upper limb amyotrophy	9782	MATR3	ORPHA:600
HP:0007149	Distal upper limb amyotrophy	353116	RILPL1	ORPHA:98897
HP:0007149	Distal upper limb amyotrophy	10755	GIPC1	ORPHA:98897
HP:0007149	Distal upper limb amyotrophy	29967	LRP12	ORPHA:98897
HP:0007149	Distal upper limb amyotrophy	100996717	NOTCH2NLC	ORPHA:98897
HP:0007149	Distal upper limb amyotrophy	55768	NGLY1	OMIM:615273
HP:0007149	Distal upper limb amyotrophy	23321	TRIM2	OMIM:615490
HP:0007149	Distal upper limb amyotrophy	182	JAG1	OMIM:619574
HP:0007149	Distal upper limb amyotrophy	22880	MORC2	OMIM:616688
HP:0007149	Distal upper limb amyotrophy	859	CAV3	OMIM:614321
HP:0007149	Distal upper limb amyotrophy	859	CAV3	ORPHA:488650
HP:0007149	Distal upper limb amyotrophy	4358	MPV17	OMIM:256810
HP:0007149	Distal upper limb amyotrophy	374969	SVBP	OMIM:618569
HP:0007149	Distal upper limb amyotrophy	10558	SPTLC1	OMIM:620285
HP:0007149	Distal upper limb amyotrophy	1678	TIMM8A	OMIM:304700
HP:0007149	Distal upper limb amyotrophy	6261	RYR1	ORPHA:178145
HP:0007149	Distal upper limb amyotrophy	55958	KLHL9	ORPHA:399081
HP:0007149	Distal upper limb amyotrophy	547	KIF1A	OMIM:614213
HP:0007149	Distal upper limb amyotrophy	57716	PRX	OMIM:614895
HP:0007149	Distal upper limb amyotrophy	3035	HARS1	ORPHA:488333
HP:0007149	Distal upper limb amyotrophy	400916	CHCHD10	ORPHA:276435
HP:0007149	Distal upper limb amyotrophy	11155	LDB3	ORPHA:98912
HP:0007149	Distal upper limb amyotrophy	4359	MPZ	ORPHA:3115
HP:0007149	Distal upper limb amyotrophy	1134	CHRNA1	OMIM:601462
HP:0007149	Distal upper limb amyotrophy	9997	SCO2	OMIM:604377
HP:0007149	Distal upper limb amyotrophy	4141	MARS1	OMIM:616280
HP:0007149	Distal upper limb amyotrophy	284058	KANSL1	ORPHA:363965
HP:0007149	Distal upper limb amyotrophy	284058	KANSL1	ORPHA:363958
HP:0007149	Distal upper limb amyotrophy	3094	HINT1	ORPHA:324442
HP:0007149	Distal upper limb amyotrophy	26580	BSCL2	ORPHA:100998
HP:0007149	Distal upper limb amyotrophy	57679	ALS2	OMIM:205100
HP:0007149	Distal upper limb amyotrophy	7415	VCP	ORPHA:435387
HP:0007149	Distal upper limb amyotrophy	58	ACTA1	OMIM:616852
HP:0007149	Distal upper limb amyotrophy	10342	TFG	OMIM:615658
HP:0007149	Distal upper limb amyotrophy	5376	PMP22	ORPHA:90658
HP:0007149	Distal upper limb amyotrophy	89874	SLC25A21	OMIM:618811
HP:0007149	Distal upper limb amyotrophy	170689	ADAMTS15	OMIM:620545
HP:0007149	Distal upper limb amyotrophy	54332	GDAP1	ORPHA:99944
HP:0007149	Distal upper limb amyotrophy	1639	DCTN1	OMIM:607641
HP:0007149	Distal upper limb amyotrophy	113278	SLC52A3	OMIM:211530
HP:0007149	Distal upper limb amyotrophy	2395	FXN	ORPHA:95
HP:0030005	Capillary leak	3932	LCK	OMIM:615758
HP:0030005	Capillary leak	2492	FSHR	ORPHA:64739
HP:0030004	Cicatricial lagophthalmos	54101	RIPK4	OMIM:263650
HP:0033280	Paratracheal lymphadenopathy	340061	STING1	OMIM:615934
HP:0033281	Circulating nucleated red blood cells	10661	KLF1	OMIM:613673
HP:0033282	Abnormal glomerular basement membrane morphology	3075	CFH	OMIM:609814
HP:0033282	Abnormal glomerular basement membrane morphology	7369	UMOD	OMIM:162000
HP:0033282	Abnormal glomerular basement membrane morphology	100147744	RNU7-1	OMIM:619487
HP:0033282	Abnormal glomerular basement membrane morphology	9722	NOS1AP	OMIM:619155
HP:0033282	Abnormal glomerular basement membrane morphology	1286	COL4A4	OMIM:203780
HP:0033282	Abnormal glomerular basement membrane morphology	4010	LMX1B	ORPHA:2614
HP:0033282	Abnormal glomerular basement membrane morphology	2625	GATA3	OMIM:146255
HP:0033282	Abnormal glomerular basement membrane morphology	51134	CEP83	OMIM:615862
HP:0033282	Abnormal glomerular basement membrane morphology	8526	DGKE	OMIM:615008
HP:0033282	Abnormal glomerular basement membrane morphology	1287	COL4A5	OMIM:301050
HP:0033282	Abnormal glomerular basement membrane morphology	977	CD151	OMIM:609057
HP:0033282	Abnormal glomerular basement membrane morphology	396	ARHGDIA	OMIM:615244
HP:0033282	Abnormal glomerular basement membrane morphology	1285	COL4A3	OMIM:620320
HP:0012450	Chronic constipation	3476	IGBP1	OMIM:300472
HP:0012450	Chronic constipation	6095	RORA	OMIM:618060
HP:0012450	Chronic constipation	23111	SPART	OMIM:275900
HP:0012450	Chronic constipation	25970	SH2B1	ORPHA:261222
HP:0012450	Chronic constipation	23394	ADNP	ORPHA:404448
HP:0012450	Chronic constipation	8367	H4C5	OMIM:619950
HP:0012450	Chronic constipation	23417	MLYCD	OMIM:248360
HP:0012450	Chronic constipation	7360	UGP2	OMIM:618744
HP:0012450	Chronic constipation	3008	H1-4	OMIM:617537
HP:0012450	Chronic constipation	26115	TANC2	OMIM:618906
HP:0012450	Chronic constipation	100033413	SNORD116-1	OMIM:176270
HP:0012450	Chronic constipation	8924	HERC2	OMIM:176270
HP:0012450	Chronic constipation	23742	NPAP1	OMIM:176270
HP:0012450	Chronic constipation	338433	SNORD115-1	OMIM:176270
HP:0012450	Chronic constipation	54551	MAGEL2	OMIM:176270
HP:0012450	Chronic constipation	54551	MAGEL2	ORPHA:398069
HP:0012450	Chronic constipation	7681	MKRN3	OMIM:176270
HP:0012450	Chronic constipation	145624	PWAR1	OMIM:176270
HP:0012450	Chronic constipation	3653	IPW	OMIM:176270
HP:0012450	Chronic constipation	791114	PWRN1	OMIM:176270
HP:0012450	Chronic constipation	23126	POGZ	ORPHA:468678
HP:0012450	Chronic constipation	411	ARSB	OMIM:253200
HP:0012450	Chronic constipation	55209	SETD5	ORPHA:404440
HP:0012450	Chronic constipation	10743	RAI1	ORPHA:477817
HP:0012450	Chronic constipation	4210	MEFV	OMIM:249100
HP:0012450	Chronic constipation	3020	H3-3A	OMIM:619720
HP:0012450	Chronic constipation	29998	BICRA	OMIM:619325
HP:0012450	Chronic constipation	3021	H3-3B	OMIM:619721
HP:0012450	Chronic constipation	113179	ADAT3	ORPHA:363528
HP:0012450	Chronic constipation	51506	UFC1	OMIM:618076
HP:0012450	Chronic constipation	51111	KMT5B	OMIM:617788
HP:0012450	Chronic constipation	8239	USP9X	OMIM:300919
HP:0012450	Chronic constipation	166378	AFG2A	OMIM:616577
HP:0012450	Chronic constipation	4953	ODC1	ORPHA:544488
HP:0012450	Chronic constipation	3097	HIVEP2	OMIM:616977
HP:0012450	Chronic constipation	24142	NAA80	OMIM:620830
HP:0012450	Chronic constipation	28960	DCPS	OMIM:616459
HP:0012450	Chronic constipation	55768	NGLY1	ORPHA:404454
HP:0012450	Chronic constipation	6904	TBCD	ORPHA:496641
HP:0012450	Chronic constipation	4001	LMNB1	OMIM:619179
HP:0012450	Chronic constipation	57551	TAOK1	OMIM:619575
HP:0012450	Chronic constipation	55870	ASH1L	OMIM:617796
HP:0012450	Chronic constipation	3899	AFF3	OMIM:619297
HP:0012450	Chronic constipation	9739	SETD1A	OMIM:619056
HP:0012450	Chronic constipation	7468	NSD2	OMIM:619695
HP:0012450	Chronic constipation	816	CAMK2B	OMIM:617799
HP:0012450	Chronic constipation	7132	TNFRSF1A	OMIM:142680
HP:0012450	Chronic constipation	84188	FAR1	OMIM:619338
HP:0012450	Chronic constipation	2629	GBA1	ORPHA:411602
HP:0012450	Chronic constipation	23317	DNAJC13	ORPHA:411602
HP:0012450	Chronic constipation	1981	EIF4G1	ORPHA:411602
HP:0012450	Chronic constipation	55737	VPS35	ORPHA:411602
HP:0012450	Chronic constipation	120892	LRRK2	ORPHA:411602
HP:0012450	Chronic constipation	26058	GIGYF2	ORPHA:411602
HP:0012450	Chronic constipation	6622	SNCA	ORPHA:411602
HP:0012450	Chronic constipation	9969	MED13	OMIM:618009
HP:0012450	Chronic constipation	1277	COL1A1	ORPHA:287
HP:0012450	Chronic constipation	1289	COL5A1	ORPHA:287
HP:0012450	Chronic constipation	1290	COL5A2	ORPHA:287
HP:0012450	Chronic constipation	7703	PCGF2	OMIM:618371
HP:0012450	Chronic constipation	10943	MSL3	OMIM:301032
HP:0012450	Chronic constipation	84823	LMNB2	OMIM:619180
HP:0012450	Chronic constipation	2064	ERBB2	OMIM:619465
HP:0012450	Chronic constipation	23036	ZNF292	OMIM:619188
HP:0012450	Chronic constipation	3188	HNRNPH2	OMIM:300986
HP:0012450	Chronic constipation	2257	FGF12	OMIM:617166
HP:0012450	Chronic constipation	25	ABL1	OMIM:617602
HP:0012450	Chronic constipation	79813	EHMT1	OMIM:610253
HP:0012450	Chronic constipation	5332	PLCB4	OMIM:620458
HP:0012450	Chronic constipation	2783	GNB2	OMIM:619503
HP:0012450	Chronic constipation	55186	SLC25A36	OMIM:620211
HP:0012450	Chronic constipation	9653	HS2ST1	OMIM:619194
HP:0012450	Chronic constipation	4629	MYH11	OMIM:619350
HP:0012450	Chronic constipation	1267	CNP	OMIM:619071
HP:0012450	Chronic constipation	5518	PPP2R1A	OMIM:616362
HP:0012450	Chronic constipation	7874	USP7	ORPHA:500055
HP:0012450	Chronic constipation	65109	UPF3B	OMIM:300676
HP:0012450	Chronic constipation	6608	SMO	OMIM:601707
HP:0012450	Chronic constipation	10526	IPO8	OMIM:619472
HP:0012450	Chronic constipation	5457	POU4F1	OMIM:619352
HP:0012450	Chronic constipation	29927	SEC61A1	OMIM:617056
HP:0012450	Chronic constipation	51633	OTUD6B	OMIM:617452
HP:0012450	Chronic constipation	51633	OTUD6B	ORPHA:505237
HP:0012450	Chronic constipation	8929	PHOX2B	OMIM:209880
HP:0012450	Chronic constipation	7204	TRIO	OMIM:618825
HP:0012450	Chronic constipation	7204	TRIO	OMIM:617061
HP:0012450	Chronic constipation	7204	TRIO	ORPHA:476126
HP:0012450	Chronic constipation	5593	PRKG2	OMIM:619636
HP:0012450	Chronic constipation	1650	DDOST	OMIM:614507
HP:0012450	Chronic constipation	54499	TMCO1	OMIM:213980
HP:0012450	Chronic constipation	8936	WASF1	OMIM:618707
HP:0012450	Chronic constipation	8405	SPOP	OMIM:618829
HP:0012450	Chronic constipation	11198	SUPT16H	OMIM:619480
HP:0012450	Chronic constipation	283446	MYO1H	OMIM:619482
HP:0012450	Chronic constipation	57459	GATAD2B	ORPHA:363686
HP:0012450	Chronic constipation	6558	SLC12A2	OMIM:619080
HP:0012450	Chronic constipation	8567	MADD	OMIM:619004
HP:0012450	Chronic constipation	8567	MADD	OMIM:619005
HP:0012450	Chronic constipation	10660	LBX1	OMIM:619483
HP:0012450	Chronic constipation	10991	SLC38A3	OMIM:619881
HP:0012450	Chronic constipation	3110	MNX1	ORPHA:1552
HP:0012450	Chronic constipation	3110	MNX1	OMIM:176450
HP:0012450	Chronic constipation	23261	CAMTA1	OMIM:614756
HP:0012450	Chronic constipation	5500	PPP1CB	OMIM:617506
HP:0012450	Chronic constipation	7841	MOGS	ORPHA:79330
HP:0012450	Chronic constipation	9338	TCEAL1	OMIM:301094
HP:0012450	Chronic constipation	2006	ELN	OMIM:194050
HP:0012450	Chronic constipation	51085	MLXIPL	OMIM:194050
HP:0012450	Chronic constipation	7030	TFE3	OMIM:301066
HP:0012450	Chronic constipation	1984	EIF5A	OMIM:619376
HP:0012450	Chronic constipation	64321	SOX17	OMIM:613674
HP:0012450	Chronic constipation	2890	GRIA1	OMIM:619931
HP:0012450	Chronic constipation	23219	FBXO28	OMIM:619777
HP:0012450	Chronic constipation	4204	MECP2	OMIM:300260
HP:0012450	Chronic constipation	129285	PPP1R21	OMIM:619383
HP:0012450	Chronic constipation	2000	ELF4	OMIM:301074
HP:0012450	Chronic constipation	1387	CREBBP	OMIM:618332
HP:0012450	Chronic constipation	2033	EP300	OMIM:618333
HP:0012450	Chronic constipation	92935	MARS2	OMIM:616430
HP:0012450	Chronic constipation	567	B2M	OMIM:620659
HP:0012450	Chronic constipation	7319	UBE2A	ORPHA:163956
HP:0012450	Chronic constipation	5062	PAK2	OMIM:618458
HP:0012450	Chronic constipation	10664	CTCF	OMIM:615502
HP:0012450	Chronic constipation	81603	TRIM8	OMIM:619428
HP:0012450	Chronic constipation	5696	PSMB8	OMIM:256040
HP:0012450	Chronic constipation	140679	SLC32A1	OMIM:620774
HP:0012450	Chronic constipation	4976	OPA1	OMIM:210000
HP:0012452	Restless legs	1512	CTSH	ORPHA:2073
HP:0012452	Restless legs	5032	P2RY11	ORPHA:2073
HP:0012452	Restless legs	4340	MOG	ORPHA:2073
HP:0012452	Restless legs	3119	HLA-DQB1	ORPHA:2073
HP:0012452	Restless legs	3060	HCRT	ORPHA:2073
HP:0012452	Restless legs	22891	ZNF365	ORPHA:2073
HP:0012452	Restless legs	7292	TNFSF4	ORPHA:2073
HP:0012452	Restless legs	3123	HLA-DRB1	ORPHA:2073
HP:0012452	Restless legs	6709	SPTAN1	OMIM:620528
HP:0012452	Restless legs	51142	CHCHD2	OMIM:616710
HP:0012452	Restless legs	2512	FTL	OMIM:615604
HP:0012452	Restless legs	54832	VPS13C	ORPHA:2828
HP:0012452	Restless legs	11315	PARK7	ORPHA:2828
HP:0012452	Restless legs	7345	UCHL1	ORPHA:2828
HP:0012452	Restless legs	27429	HTRA2	ORPHA:2828
HP:0012452	Restless legs	120892	LRRK2	ORPHA:2828
HP:0012452	Restless legs	9829	DNAJC6	ORPHA:2828
HP:0012452	Restless legs	6622	SNCA	ORPHA:2828
HP:0012452	Restless legs	5420	PODXL	ORPHA:2828
HP:0012452	Restless legs	65018	PINK1	ORPHA:2828
HP:0012452	Restless legs	8867	SYNJ1	ORPHA:2828
HP:0012452	Restless legs	5071	PRKN	ORPHA:2828
HP:0012452	Restless legs	7555	CNBP	ORPHA:606
HP:0012452	Restless legs	4747	NEFL	ORPHA:101085
HP:0012452	Restless legs	2395	FXN	ORPHA:95
HP:0012452	Restless legs	9927	MFN2	ORPHA:99947
HP:0012452	Restless legs	83550	GPR101	ORPHA:963
HP:0012452	Restless legs	9049	AIP	ORPHA:963
HP:0012452	Restless legs	6314	ATXN7	ORPHA:94147
HP:0012452	Restless legs	5524	PTPA	OMIM:620482
HP:0012453	Bilateral wrist flexion contracture	11160	ERLIN2	ORPHA:209951
HP:0012453	Bilateral wrist flexion contracture	171023	ASXL1	ORPHA:97297
HP:0012453	Bilateral wrist flexion contracture	5077	PAX3	OMIM:148820
HP:0012454	Unilateral wrist flexion contracture	5297	PI4KA	OMIM:616531
HP:0003207	Arterial calcification	3081	HGD	ORPHA:56
HP:0003207	Arterial calcification	3081	HGD	OMIM:203500
HP:0003207	Arterial calcification	6575	SLC20A2	OMIM:213600
HP:0003207	Arterial calcification	5159	PDGFRB	OMIM:213600
HP:0003207	Arterial calcification	5155	PDGFB	OMIM:213600
HP:0003207	Arterial calcification	4907	NT5E	ORPHA:289601
HP:0003207	Arterial calcification	368	ABCC6	OMIM:614473
HP:0003207	Arterial calcification	368	ABCC6	ORPHA:51608
HP:0003207	Arterial calcification	5167	ENPP1	ORPHA:51608
HP:0003207	Arterial calcification	4851	NOTCH1	ORPHA:402075
HP:0003207	Arterial calcification	1482	NKX2-5	ORPHA:402075
HP:0003207	Arterial calcification	140628	GATA5	ORPHA:402075
HP:0003207	Arterial calcification	3949	LDLR	ORPHA:391665
HP:0003207	Arterial calcification	255738	PCSK9	ORPHA:391665
HP:0003207	Arterial calcification	26119	LDLRAP1	ORPHA:391665
HP:0003207	Arterial calcification	338	APOB	ORPHA:391665
HP:0003207	Arterial calcification	64240	ABCG5	ORPHA:391665
HP:0003207	Arterial calcification	64241	ABCG8	ORPHA:391665
HP:0003207	Arterial calcification	2629	GBA1	OMIM:231005
HP:0003207	Arterial calcification	2629	GBA1	ORPHA:77261
HP:0003207	Arterial calcification	2629	GBA1	ORPHA:2072
HP:0003207	Arterial calcification	4091	SMAD6	OMIM:614823
HP:0003207	Arterial calcification	10568	SLC34A2	ORPHA:60025
HP:0003207	Arterial calcification	10535	RNASEH2A	ORPHA:51
HP:0003207	Arterial calcification	84153	RNASEH2C	ORPHA:51
HP:0003207	Arterial calcification	25939	SAMHD1	ORPHA:51
HP:0003207	Arterial calcification	79621	RNASEH2B	ORPHA:51
HP:0003207	Arterial calcification	103	ADAR	ORPHA:51
HP:0003207	Arterial calcification	11277	TREX1	ORPHA:51
HP:0003207	Arterial calcification	100147744	RNU7-1	ORPHA:51
HP:0003207	Arterial calcification	134353	LSM11	ORPHA:51
HP:0003207	Arterial calcification	64135	IFIH1	ORPHA:51
HP:0003207	Arterial calcification	6772	STAT1	ORPHA:391487
HP:0012456	Medial arterial calcification	6772	STAT1	ORPHA:391487
HP:0012456	Medial arterial calcification	368	ABCC6	OMIM:177850
HP:0012456	Medial arterial calcification	368	ABCC6	ORPHA:51608
HP:0012456	Medial arterial calcification	5167	ENPP1	ORPHA:51608
HP:0012457	Medial calcification of medium-sized arteries	368	ABCC6	OMIM:177850
HP:0012457	Medial calcification of medium-sized arteries	368	ABCC6	ORPHA:51608
HP:0012457	Medial calcification of medium-sized arteries	5167	ENPP1	ORPHA:51608
HP:0002131	Episodic ataxia	3736	KCNA1	OMIM:160120
HP:0002131	Episodic ataxia	3736	KCNA1	ORPHA:1934
HP:0002131	Episodic ataxia	6326	SCN2A	OMIM:618924
HP:0002131	Episodic ataxia	6326	SCN2A	ORPHA:140927
HP:0002131	Episodic ataxia	6326	SCN2A	ORPHA:1934
HP:0002131	Episodic ataxia	340024	SLC6A19	OMIM:234500
HP:0002131	Episodic ataxia	5009	OTC	OMIM:311250
HP:0002131	Episodic ataxia	785	CACNB4	OMIM:613855
HP:0002131	Episodic ataxia	785	CACNB4	OMIM:607682
HP:0002131	Episodic ataxia	4784	NFIX	ORPHA:420179
HP:0002131	Episodic ataxia	6513	SLC2A1	OMIM:601042
HP:0002131	Episodic ataxia	6513	SLC2A1	ORPHA:53583
HP:0002131	Episodic ataxia	773	CACNA1A	OMIM:108500
HP:0002131	Episodic ataxia	3785	KCNQ2	ORPHA:140927
HP:0002131	Episodic ataxia	478	ATP1A3	OMIM:601338
HP:0002131	Episodic ataxia	5160	PDHA1	OMIM:312170
HP:0002131	Episodic ataxia	6507	SLC1A3	OMIM:612656
HP:0002131	Episodic ataxia	27010	TPK1	OMIM:614458
HP:0002131	Episodic ataxia	6792	CDKL5	ORPHA:1934
HP:0002131	Episodic ataxia	9091	PIGQ	ORPHA:1934
HP:0002131	Episodic ataxia	140679	SLC32A1	ORPHA:1934
HP:0002131	Episodic ataxia	2775	GNAO1	ORPHA:1934
HP:0002131	Episodic ataxia	81603	TRIM8	ORPHA:1934
HP:0002131	Episodic ataxia	2902	GRIN1	ORPHA:1934
HP:0002131	Episodic ataxia	79751	SLC25A22	ORPHA:1934
HP:0002131	Episodic ataxia	150094	SIK1	ORPHA:1934
HP:0002131	Episodic ataxia	8573	CASK	ORPHA:1934
HP:0002131	Episodic ataxia	23312	DMXL2	ORPHA:1934
HP:0002131	Episodic ataxia	2917	GRM7	ORPHA:1934
HP:0002131	Episodic ataxia	170302	ARX	ORPHA:1934
HP:0002131	Episodic ataxia	11284	PNKP	ORPHA:1934
HP:0002131	Episodic ataxia	51227	PIGP	ORPHA:1934
HP:0002131	Episodic ataxia	6324	SCN1B	ORPHA:1934
HP:0002131	Episodic ataxia	4761	NEUROD2	ORPHA:1934
HP:0002131	Episodic ataxia	477	ATP1A2	OMIM:602481
HP:0007153	Progressive extrapyramidal movement disorder	9640	ZNF592	ORPHA:83472
HP:0007153	Progressive extrapyramidal movement disorder	84942	WDR73	ORPHA:83472
HP:0007153	Progressive extrapyramidal movement disorder	10367	MICU1	ORPHA:401768
HP:0007153	Progressive extrapyramidal movement disorder	2593	GAMT	ORPHA:382
HP:0007153	Progressive extrapyramidal movement disorder	2593	GAMT	OMIM:612736
HP:0007153	Progressive extrapyramidal movement disorder	23400	ATP13A2	ORPHA:513436
HP:0007153	Progressive extrapyramidal movement disorder	8398	PLA2G6	ORPHA:199351
HP:0007153	Progressive extrapyramidal movement disorder	79152	FA2H	ORPHA:329308
HP:0007153	Progressive extrapyramidal movement disorder	81570	CLPB	ORPHA:445038
HP:0007153	Progressive extrapyramidal movement disorder	5917	RARS1	ORPHA:438114
HP:0001268	Mental deterioration	5274	SERPINI1	OMIM:604218
HP:0001268	Mental deterioration	4287	ATXN3	OMIM:109150
HP:0001268	Mental deterioration	4287	ATXN3	OMIM:168600
HP:0001268	Mental deterioration	8029	CUBN	OMIM:261100
HP:0001268	Mental deterioration	9782	MATR3	OMIM:606070
HP:0001268	Mental deterioration	9782	MATR3	ORPHA:600
HP:0001268	Mental deterioration	1593	CYP27A1	OMIM:213700
HP:0001268	Mental deterioration	4693	NDP	OMIM:310600
HP:0001268	Mental deterioration	5521	PPP2R2B	OMIM:604326
HP:0001268	Mental deterioration	5521	PPP2R2B	ORPHA:98762
HP:0001268	Mental deterioration	154881	KCTD7	ORPHA:263516
HP:0001268	Mental deterioration	3073	HEXA	OMIM:272800
HP:0001268	Mental deterioration	1639	DCTN1	ORPHA:178509
HP:0001268	Mental deterioration	6311	ATXN2	OMIM:183090
HP:0001268	Mental deterioration	6311	ATXN2	ORPHA:98756
HP:0001268	Mental deterioration	6311	ATXN2	OMIM:168600
HP:0001268	Mental deterioration	3664	IRF6	OMIM:119500
HP:0001268	Mental deterioration	5575	PRKAR1B	ORPHA:412066
HP:0001268	Mental deterioration	100996717	NOTCH2NLC	ORPHA:2289
HP:0001268	Mental deterioration	100996717	NOTCH2NLC	OMIM:603472
HP:0001268	Mental deterioration	54476	RNF216	OMIM:212840
HP:0001268	Mental deterioration	54476	RNF216	ORPHA:1173
HP:0001268	Mental deterioration	1161	ERCC8	OMIM:216400
HP:0001268	Mental deterioration	5428	POLG	ORPHA:298
HP:0001268	Mental deterioration	5428	POLG	OMIM:203700
HP:0001268	Mental deterioration	5428	POLG	OMIM:607459
HP:0001268	Mental deterioration	5428	POLG	OMIM:603041
HP:0001268	Mental deterioration	1890	TYMP	ORPHA:298
HP:0001268	Mental deterioration	1890	TYMP	OMIM:603041
HP:0001268	Mental deterioration	50484	RRM2B	ORPHA:298
HP:0001268	Mental deterioration	50484	RRM2B	ORPHA:480
HP:0001268	Mental deterioration	4574	MT-TS1	OMIM:540000
HP:0001268	Mental deterioration	4574	MT-TS1	ORPHA:550
HP:0001268	Mental deterioration	4575	MT-TS2	OMIM:540000
HP:0001268	Mental deterioration	4575	MT-TS2	ORPHA:550
HP:0001268	Mental deterioration	4535	MT-ND1	OMIM:540000
HP:0001268	Mental deterioration	4535	MT-ND1	ORPHA:550
HP:0001268	Mental deterioration	4567	MT-TL1	OMIM:540000
HP:0001268	Mental deterioration	4567	MT-TL1	ORPHA:480
HP:0001268	Mental deterioration	4567	MT-TL1	ORPHA:550
HP:0001268	Mental deterioration	4512	MT-CO1	OMIM:540000
HP:0001268	Mental deterioration	4512	MT-CO1	ORPHA:550
HP:0001268	Mental deterioration	4513	MT-CO2	OMIM:540000
HP:0001268	Mental deterioration	4513	MT-CO2	ORPHA:550
HP:0001268	Mental deterioration	4514	MT-CO3	OMIM:540000
HP:0001268	Mental deterioration	4514	MT-CO3	ORPHA:550
HP:0001268	Mental deterioration	4519	MT-CYB	OMIM:540000
HP:0001268	Mental deterioration	4511	MT-TC	OMIM:540000
HP:0001268	Mental deterioration	4572	MT-TQ	OMIM:540000
HP:0001268	Mental deterioration	4572	MT-TQ	ORPHA:550
HP:0001268	Mental deterioration	4577	MT-TV	OMIM:540000
HP:0001268	Mental deterioration	4578	MT-TW	OMIM:540000
HP:0001268	Mental deterioration	4578	MT-TW	ORPHA:550
HP:0001268	Mental deterioration	4558	MT-TF	OMIM:540000
HP:0001268	Mental deterioration	4558	MT-TF	ORPHA:550
HP:0001268	Mental deterioration	4540	MT-ND5	OMIM:540000
HP:0001268	Mental deterioration	4540	MT-ND5	ORPHA:550
HP:0001268	Mental deterioration	4541	MT-ND6	OMIM:540000
HP:0001268	Mental deterioration	4541	MT-ND6	ORPHA:550
HP:0001268	Mental deterioration	348	APOE	OMIM:607822
HP:0001268	Mental deterioration	348	APOE	OMIM:606889
HP:0001268	Mental deterioration	348	APOE	OMIM:104310
HP:0001268	Mental deterioration	1716	DGUOK	ORPHA:329314
HP:0001268	Mental deterioration	1716	DGUOK	OMIM:617070
HP:0001268	Mental deterioration	10558	SPTLC1	OMIM:620285
HP:0001268	Mental deterioration	7276	TTR	OMIM:105210
HP:0001268	Mental deterioration	4508	MT-ATP6	OMIM:551500
HP:0001268	Mental deterioration	4508	MT-ATP6	ORPHA:644
HP:0001268	Mental deterioration	1130	LYST	ORPHA:167
HP:0001268	Mental deterioration	22	ABCB7	OMIM:301310
HP:0001268	Mental deterioration	10715	CERS1	OMIM:616230
HP:0001268	Mental deterioration	9445	ITM2B	OMIM:117300
HP:0001268	Mental deterioration	9445	ITM2B	OMIM:176500
HP:0001268	Mental deterioration	10908	PNPLA6	ORPHA:1173
HP:0001268	Mental deterioration	1201	CLN3	OMIM:204200
HP:0001268	Mental deterioration	11315	PARK7	ORPHA:2828
HP:0001268	Mental deterioration	7345	UCHL1	ORPHA:2828
HP:0001268	Mental deterioration	27429	HTRA2	ORPHA:2828
HP:0001268	Mental deterioration	9829	DNAJC6	ORPHA:2828
HP:0001268	Mental deterioration	5420	PODXL	ORPHA:2828
HP:0001268	Mental deterioration	65018	PINK1	ORPHA:2828
HP:0001268	Mental deterioration	65018	PINK1	OMIM:605909
HP:0001268	Mental deterioration	5071	PRKN	ORPHA:2828
HP:0001268	Mental deterioration	5071	PRKN	OMIM:600116
HP:0001268	Mental deterioration	57338	JPH3	ORPHA:98934
HP:0001268	Mental deterioration	57338	JPH3	OMIM:606438
HP:0001268	Mental deterioration	4854	NOTCH3	OMIM:125310
HP:0001268	Mental deterioration	4854	NOTCH3	ORPHA:136
HP:0001268	Mental deterioration	1471	CST3	OMIM:105150
HP:0001268	Mental deterioration	2512	FTL	OMIM:606159
HP:0001268	Mental deterioration	11277	TREX1	OMIM:192315
HP:0001268	Mental deterioration	493856	CISD2	ORPHA:3463
HP:0001268	Mental deterioration	7466	WFS1	ORPHA:3463
HP:0001268	Mental deterioration	7466	WFS1	ORPHA:411590
HP:0001268	Mental deterioration	1822	ATN1	ORPHA:101
HP:0001268	Mental deterioration	1822	ATN1	OMIM:125370
HP:0001268	Mental deterioration	4311	MME	ORPHA:497764
HP:0001268	Mental deterioration	4311	MME	OMIM:617017
HP:0001268	Mental deterioration	540	ATP7B	OMIM:277900
HP:0001268	Mental deterioration	1282	COL4A1	OMIM:618564
HP:0001268	Mental deterioration	6389	SDHA	ORPHA:3208
HP:0001268	Mental deterioration	6390	SDHB	ORPHA:3208
HP:0001268	Mental deterioration	6392	SDHD	ORPHA:3208
HP:0001268	Mental deterioration	644096	SDHAF1	ORPHA:3208
HP:0001268	Mental deterioration	5664	PSEN2	ORPHA:1020
HP:0001268	Mental deterioration	5664	PSEN2	OMIM:613697
HP:0001268	Mental deterioration	5664	PSEN2	OMIM:606889
HP:0001268	Mental deterioration	10452	TOMM40	ORPHA:1020
HP:0001268	Mental deterioration	10347	ABCA7	ORPHA:1020
HP:0001268	Mental deterioration	6653	SORL1	ORPHA:1020
HP:0001268	Mental deterioration	10229	COQ7	OMIM:620402
HP:0001268	Mental deterioration	6683	SPAST	OMIM:182601
HP:0001268	Mental deterioration	5832	ALDH18A1	ORPHA:447757
HP:0001268	Mental deterioration	5832	ALDH18A1	ORPHA:447753
HP:0001268	Mental deterioration	4556	MT-TE	ORPHA:2596
HP:0001268	Mental deterioration	56652	TWNK	OMIM:607459
HP:0001268	Mental deterioration	56652	TWNK	OMIM:609286
HP:0001268	Mental deterioration	80331	DNAJC5	OMIM:162350
HP:0001268	Mental deterioration	4509	MT-ATP8	ORPHA:480
HP:0001268	Mental deterioration	23503	ZFYVE26	ORPHA:100996
HP:0001268	Mental deterioration	25793	FBXO7	ORPHA:171695
HP:0001268	Mental deterioration	51142	CHCHD2	OMIM:616710
HP:0001268	Mental deterioration	4001	LMNB1	ORPHA:99027
HP:0001268	Mental deterioration	2639	GCDH	ORPHA:25
HP:0001268	Mental deterioration	4538	MT-ND4	ORPHA:550
HP:0001268	Mental deterioration	4564	MT-TH	ORPHA:550
HP:0001268	Mental deterioration	7080	NKX2-1	OMIM:118700
HP:0001268	Mental deterioration	1356	CP	OMIM:604290
HP:0001268	Mental deterioration	2066	ERBB4	OMIM:615515
HP:0001268	Mental deterioration	4353	MPO	OMIM:104300
HP:0001268	Mental deterioration	4846	NOS3	OMIM:104300
HP:0001268	Mental deterioration	5328	PLAU	OMIM:104300
HP:0001268	Mental deterioration	144165	PRICKLE1	ORPHA:308
HP:0001268	Mental deterioration	25814	ATXN10	OMIM:603516
HP:0001268	Mental deterioration	57505	AARS2	OMIM:615889
HP:0001268	Mental deterioration	54822	TRPM7	OMIM:105500
HP:0001268	Mental deterioration	10059	DNM1L	ORPHA:98673
HP:0001268	Mental deterioration	4976	OPA1	ORPHA:98673
HP:0001268	Mental deterioration	4694	NDUFA1	OMIM:301020
HP:0001268	Mental deterioration	84196	USP48	ORPHA:96253
HP:0001268	Mental deterioration	7157	TP53	ORPHA:96253
HP:0001268	Mental deterioration	9101	USP8	ORPHA:96253
HP:0001268	Mental deterioration	64072	CDH23	ORPHA:96253
HP:0001268	Mental deterioration	2908	NR3C1	ORPHA:96253
HP:0001268	Mental deterioration	546	ATRX	ORPHA:96253
HP:0001268	Mental deterioration	2072	ERCC4	OMIM:278760
HP:0001268	Mental deterioration	51704	GPRC5B	OMIM:620447
HP:0001268	Mental deterioration	311	ANXA11	OMIM:617839
HP:0001268	Mental deterioration	116442	RAB39B	OMIM:311510
HP:0001268	Mental deterioration	1737	DLAT	ORPHA:79244
HP:0001268	Mental deterioration	549	AUH	OMIM:250950
HP:0001268	Mental deterioration	4864	NPC1	OMIM:257220
HP:0001268	Mental deterioration	3119	HLA-DQB1	OMIM:123400
HP:0001268	Mental deterioration	2632	GBE1	ORPHA:206583
HP:0001268	Mental deterioration	10382	TUBB4A	ORPHA:98805
HP:0001268	Mental deterioration	203228	C9orf72	OMIM:105550
HP:0001268	Mental deterioration	56910	STARD7	OMIM:607876
HP:0001268	Mental deterioration	9213	XPR1	OMIM:616413
HP:0001268	Mental deterioration	219285	SAMD9L	OMIM:619806
HP:0001268	Mental deterioration	6620	SNCB	OMIM:127750
HP:0001268	Mental deterioration	10577	NPC2	OMIM:607625
HP:0001268	Mental deterioration	23545	ATP6V0A2	ORPHA:357074
HP:0001268	Mental deterioration	529	ATP6V1E1	ORPHA:357074
HP:0001268	Mental deterioration	1540	CYLD	OMIM:619132
HP:0001268	Mental deterioration	126129	CPT1C	ORPHA:444099
HP:0001268	Mental deterioration	80217	CFAP43	OMIM:236690
HP:0001268	Mental deterioration	7305	TYROBP	OMIM:221770
HP:0001268	Mental deterioration	126	ADH1C	OMIM:168600
HP:0001268	Mental deterioration	4576	MT-TT	OMIM:168600
HP:0001268	Mental deterioration	9627	SNCAIP	OMIM:168600
HP:0001268	Mental deterioration	4929	NR4A2	OMIM:168600
HP:0001268	Mental deterioration	6315	ATXN8OS	OMIM:168600
HP:0001268	Mental deterioration	5052	PRDX1	OMIM:277400
HP:0001268	Mental deterioration	2760	GM2A	OMIM:272750
HP:0001268	Mental deterioration	400916	CHCHD10	OMIM:615911
HP:0001268	Mental deterioration	6323	SCN1A	OMIM:607208
HP:0001268	Mental deterioration	6323	SCN1A	ORPHA:2382
HP:0001268	Mental deterioration	6323	SCN1A	ORPHA:442835
HP:0001268	Mental deterioration	3064	HTT	ORPHA:399
HP:0001268	Mental deterioration	6515	SLC2A3	ORPHA:399
HP:0001268	Mental deterioration	4524	MTHFR	ORPHA:395
HP:0001268	Mental deterioration	51728	POLR3K	OMIM:619310
HP:0001268	Mental deterioration	23446	SLC44A1	OMIM:618868
HP:0001268	Mental deterioration	2495	FTH1	OMIM:620669
HP:0001268	Mental deterioration	54832	VPS13C	OMIM:616840
HP:0001268	Mental deterioration	2778	GNAS	OMIM:219080
HP:0001268	Mental deterioration	478	ATP1A3	OMIM:614820
HP:0001268	Mental deterioration	478	ATP1A3	ORPHA:442835
HP:0001268	Mental deterioration	1786	DNMT1	ORPHA:314404
HP:0001268	Mental deterioration	2896	GRN	OMIM:614706
HP:0001268	Mental deterioration	2896	GRN	ORPHA:275864
HP:0001268	Mental deterioration	2896	GRN	ORPHA:100070
HP:0001268	Mental deterioration	51816	ADA2	ORPHA:820
HP:0001268	Mental deterioration	51816	ADA2	OMIM:182410
HP:0001268	Mental deterioration	5604	MAP2K1	ORPHA:389
HP:0001268	Mental deterioration	4893	NRAS	ORPHA:389
HP:0001268	Mental deterioration	4893	NRAS	OMIM:249400
HP:0001268	Mental deterioration	673	BRAF	ORPHA:389
HP:0001268	Mental deterioration	5660	PSAP	OMIM:249900
HP:0001268	Mental deterioration	5660	PSAP	ORPHA:206436
HP:0001268	Mental deterioration	2581	GALC	ORPHA:206443
HP:0001268	Mental deterioration	2581	GALC	ORPHA:206448
HP:0001268	Mental deterioration	2581	GALC	ORPHA:206436
HP:0001268	Mental deterioration	1436	CSF1R	OMIM:618476
HP:0001268	Mental deterioration	1436	CSF1R	OMIM:221820
HP:0001268	Mental deterioration	3074	HEXB	ORPHA:309169
HP:0001268	Mental deterioration	351	APP	ORPHA:324713
HP:0001268	Mental deterioration	351	APP	ORPHA:100006
HP:0001268	Mental deterioration	8722	CTSF	OMIM:615362
HP:0001268	Mental deterioration	8878	SQSTM1	OMIM:617145
HP:0001268	Mental deterioration	8878	SQSTM1	ORPHA:275864
HP:0001268	Mental deterioration	80347	COASY	OMIM:615643
HP:0001268	Mental deterioration	4137	MAPT	ORPHA:240085
HP:0001268	Mental deterioration	4137	MAPT	ORPHA:240071
HP:0001268	Mental deterioration	4137	MAPT	ORPHA:240112
HP:0001268	Mental deterioration	4137	MAPT	ORPHA:240103
HP:0001268	Mental deterioration	4137	MAPT	ORPHA:275864
HP:0001268	Mental deterioration	4137	MAPT	ORPHA:100070
HP:0001268	Mental deterioration	54982	CLN6	OMIM:204300
HP:0001268	Mental deterioration	50940	PDE11A	OMIM:610475
HP:0001268	Mental deterioration	23600	AMACR	ORPHA:79095
HP:0001268	Mental deterioration	3897	L1CAM	ORPHA:306617
HP:0001268	Mental deterioration	1476	CSTB	OMIM:254800
HP:0001268	Mental deterioration	5053	PAH	ORPHA:79254
HP:0001268	Mental deterioration	26580	BSCL2	OMIM:615924
HP:0001268	Mental deterioration	6314	ATXN7	OMIM:164500
HP:0001268	Mental deterioration	6314	ATXN7	ORPHA:94147
HP:0001268	Mental deterioration	2592	GALT	ORPHA:79239
HP:0001268	Mental deterioration	1340	COX6B1	OMIM:619051
HP:0001268	Mental deterioration	51360	MBTPS2	ORPHA:2273
HP:0001268	Mental deterioration	727676	SNORD118	OMIM:614561
HP:0001268	Mental deterioration	727676	SNORD118	ORPHA:542310
HP:0001268	Mental deterioration	8867	SYNJ1	OMIM:615530
HP:0001268	Mental deterioration	8867	SYNJ1	ORPHA:442835
HP:0001268	Mental deterioration	215	ABCD1	ORPHA:139396
HP:0001268	Mental deterioration	215	ABCD1	OMIM:300100
HP:0001268	Mental deterioration	7343	UBTF	OMIM:617672
HP:0001268	Mental deterioration	3746	KCNC1	OMIM:616187
HP:0001268	Mental deterioration	3423	IDS	ORPHA:217085
HP:0001268	Mental deterioration	3423	IDS	ORPHA:217093
HP:0001268	Mental deterioration	54834	GDAP2	OMIM:618369
HP:0001268	Mental deterioration	55157	DARS2	ORPHA:137898
HP:0001268	Mental deterioration	2055	CLN8	OMIM:610003
HP:0001268	Mental deterioration	2629	GBA1	ORPHA:411602
HP:0001268	Mental deterioration	23317	DNAJC13	ORPHA:411602
HP:0001268	Mental deterioration	1981	EIF4G1	ORPHA:411602
HP:0001268	Mental deterioration	55737	VPS35	ORPHA:411602
HP:0001268	Mental deterioration	120892	LRRK2	ORPHA:411602
HP:0001268	Mental deterioration	26058	GIGYF2	ORPHA:411602
HP:0001268	Mental deterioration	6622	SNCA	ORPHA:411602
HP:0001268	Mental deterioration	6622	SNCA	OMIM:168601
HP:0001268	Mental deterioration	6575	SLC20A2	OMIM:213600
HP:0001268	Mental deterioration	5159	PDGFRB	OMIM:213600
HP:0001268	Mental deterioration	5155	PDGFB	OMIM:213600
HP:0001268	Mental deterioration	5573	PRKAR1A	OMIM:610489
HP:0001268	Mental deterioration	1509	CTSD	OMIM:610127
HP:0001268	Mental deterioration	2074	ERCC6	OMIM:278800
HP:0001268	Mental deterioration	8398	PLA2G6	ORPHA:35069
HP:0001268	Mental deterioration	8398	PLA2G6	OMIM:612953
HP:0001268	Mental deterioration	8398	PLA2G6	OMIM:610217
HP:0001268	Mental deterioration	9570	GOSR2	OMIM:620166
HP:0001268	Mental deterioration	10157	AASS	ORPHA:3124
HP:0001268	Mental deterioration	55750	AGK	OMIM:212350
HP:0001268	Mental deterioration	4566	MT-TK	ORPHA:1349
HP:0001268	Mental deterioration	5582	PRKCG	OMIM:605361
HP:0001268	Mental deterioration	10273	STUB1	OMIM:618093
HP:0001268	Mental deterioration	60	ACTB	ORPHA:79107
HP:0001268	Mental deterioration	1678	TIMM8A	OMIM:304700
HP:0001268	Mental deterioration	1678	TIMM8A	ORPHA:52368
HP:0001268	Mental deterioration	7274	TTPA	ORPHA:96
HP:0001268	Mental deterioration	51324	SPG21	ORPHA:101001
HP:0001268	Mental deterioration	2332	FMR1	OMIM:300623
HP:0001268	Mental deterioration	6326	SCN2A	ORPHA:140927
HP:0001268	Mental deterioration	3785	KCNQ2	ORPHA:140927
HP:0001268	Mental deterioration	1759	DNM1	ORPHA:2382
HP:0001268	Mental deterioration	1759	DNM1	ORPHA:442835
HP:0001268	Mental deterioration	2562	GABRB3	ORPHA:2382
HP:0001268	Mental deterioration	5602	MAPK10	ORPHA:2382
HP:0001268	Mental deterioration	773	CACNA1A	ORPHA:2382
HP:0001268	Mental deterioration	773	CACNA1A	ORPHA:442835
HP:0001268	Mental deterioration	23316	CUX2	ORPHA:2382
HP:0001268	Mental deterioration	1106	CHD2	ORPHA:2382
HP:0001268	Mental deterioration	79152	FA2H	ORPHA:329308
HP:0001268	Mental deterioration	79152	FA2H	OMIM:612319
HP:0001268	Mental deterioration	79152	FA2H	ORPHA:171629
HP:0001268	Mental deterioration	83636	C19orf12	OMIM:614298
HP:0001268	Mental deterioration	23400	ATP13A2	ORPHA:306674
HP:0001268	Mental deterioration	23400	ATP13A2	OMIM:617225
HP:0001268	Mental deterioration	7098	TLR3	OMIM:613002
HP:0001268	Mental deterioration	80208	SPG11	ORPHA:2822
HP:0001268	Mental deterioration	80208	SPG11	OMIM:604360
HP:0001268	Mental deterioration	51271	UBAP1	OMIM:618418
HP:0001268	Mental deterioration	23230	VPS13A	ORPHA:2388
HP:0001268	Mental deterioration	54840	APTX	OMIM:208920
HP:0001268	Mental deterioration	9256	TSPOAP1	OMIM:620456
HP:0001268	Mental deterioration	9256	TSPOAP1	OMIM:620453
HP:0001268	Mental deterioration	3737	KCNA2	ORPHA:442835
HP:0001268	Mental deterioration	8120	AP3B2	ORPHA:442835
HP:0001268	Mental deterioration	523	ATP6V1A	ORPHA:442835
HP:0001268	Mental deterioration	10991	SLC38A3	ORPHA:442835
HP:0001268	Mental deterioration	51343	FZR1	ORPHA:442835
HP:0001268	Mental deterioration	3747	KCNC2	ORPHA:442835
HP:0001268	Mental deterioration	1917	EEF1A2	ORPHA:442835
HP:0001268	Mental deterioration	23219	FBXO28	ORPHA:442835
HP:0001268	Mental deterioration	2561	GABRB2	ORPHA:442835
HP:0001268	Mental deterioration	8831	SYNGAP1	ORPHA:442835
HP:0001268	Mental deterioration	2558	GABRA5	ORPHA:442835
HP:0001268	Mental deterioration	2906	GRIN2D	ORPHA:442835
HP:0001268	Mental deterioration	116150	NUS1	ORPHA:442835
HP:0001268	Mental deterioration	1213	CLTC	ORPHA:442835
HP:0001268	Mental deterioration	51741	WWOX	ORPHA:442835
HP:0001268	Mental deterioration	23334	SZT2	ORPHA:442835
HP:0001268	Mental deterioration	348980	HCN1	ORPHA:442835
HP:0001268	Mental deterioration	25977	NECAP1	ORPHA:442835
HP:0001268	Mental deterioration	23241	PACS2	ORPHA:442835
HP:0001268	Mental deterioration	16	AARS1	ORPHA:442835
HP:0001268	Mental deterioration	16	AARS1	OMIM:619661
HP:0001268	Mental deterioration	6334	SCN8A	ORPHA:442835
HP:0001268	Mental deterioration	9568	GABBR2	ORPHA:442835
HP:0001268	Mental deterioration	2555	GABRA2	ORPHA:442835
HP:0001268	Mental deterioration	55152	DALRD3	ORPHA:442835
HP:0001268	Mental deterioration	26999	CYFIP2	ORPHA:442835
HP:0001268	Mental deterioration	4915	NTRK2	ORPHA:442835
HP:0001268	Mental deterioration	25973	PARS2	ORPHA:442835
HP:0001268	Mental deterioration	23097	CDK19	ORPHA:442835
HP:0001268	Mental deterioration	2257	FGF12	ORPHA:442835
HP:0001268	Mental deterioration	5530	PPP3CA	ORPHA:442835
HP:0001268	Mental deterioration	22906	TRAK1	ORPHA:442835
HP:0001268	Mental deterioration	2566	GABRG2	ORPHA:442835
HP:0001268	Mental deterioration	7532	YWHAG	ORPHA:442835
HP:0001268	Mental deterioration	79876	UBA5	ORPHA:442835
HP:0001268	Mental deterioration	6328	SCN3A	ORPHA:442835
HP:0001268	Mental deterioration	781	CACNA2D1	ORPHA:442835
HP:0001268	Mental deterioration	10659	CELF2	ORPHA:442835
HP:0001268	Mental deterioration	774	CACNA1B	ORPHA:442835
HP:0001268	Mental deterioration	51412	ACTL6B	ORPHA:442835
HP:0001268	Mental deterioration	2290	FOXG1	ORPHA:442835
HP:0001268	Mental deterioration	6506	SLC1A2	ORPHA:442835
HP:0001268	Mental deterioration	477	ATP1A2	ORPHA:442835
HP:0001268	Mental deterioration	3745	KCNB1	ORPHA:442835
HP:0001268	Mental deterioration	284111	SLC13A5	ORPHA:442835
HP:0001268	Mental deterioration	284111	SLC13A5	ORPHA:1946
HP:0001268	Mental deterioration	22866	CNKSR2	ORPHA:442835
HP:0001268	Mental deterioration	79947	DHDDS	ORPHA:442835
HP:0001268	Mental deterioration	950	SCARB2	OMIM:254900
HP:0001268	Mental deterioration	9907	AP5Z1	OMIM:613647
HP:0001268	Mental deterioration	220296	HEPACAM	OMIM:613925
HP:0001268	Mental deterioration	5621	PRNP	ORPHA:356
HP:0001268	Mental deterioration	5654	HTRA1	ORPHA:199354
HP:0001268	Mental deterioration	5654	HTRA1	OMIM:616779
HP:0001268	Mental deterioration	3735	KARS1	OMIM:619196
HP:0001268	Mental deterioration	84138	SLC7A6OS	OMIM:619191
HP:0001268	Mental deterioration	8879	SGPL1	OMIM:617575
HP:0001268	Mental deterioration	58494	JAM2	OMIM:618824
HP:0001268	Mental deterioration	2517	FUCA1	OMIM:230000
HP:0001268	Mental deterioration	9927	MFN2	OMIM:609260
HP:0001268	Mental deterioration	10846	PDE10A	OMIM:616922
HP:0001268	Mental deterioration	378884	NHLRC1	ORPHA:501
HP:0001268	Mental deterioration	7957	EPM2A	ORPHA:501
HP:0001268	Mental deterioration	80025	PANK2	OMIM:234200
HP:0001268	Mental deterioration	7507	XPA	OMIM:278700
HP:0001268	Mental deterioration	26047	CNTNAP2	ORPHA:163681
HP:0001268	Mental deterioration	29110	TBK1	OMIM:617900
HP:0001268	Mental deterioration	57462	MYORG	OMIM:618317
HP:0001268	Mental deterioration	256471	MFSD8	OMIM:610951
HP:0001268	Mental deterioration	6908	TBP	ORPHA:98759
HP:0001268	Mental deterioration	5354	PLP1	ORPHA:280229
HP:0001268	Mental deterioration	5354	PLP1	OMIM:312080
HP:0001268	Mental deterioration	11152	WDR45	OMIM:300894
HP:0001268	Mental deterioration	427	ASAH1	ORPHA:2590
HP:0001268	Mental deterioration	25974	MMACHC	ORPHA:79282
HP:0001268	Mental deterioration	57704	GBA2	OMIM:614409
HP:0001268	Mental deterioration	4683	NBN	ORPHA:647
HP:0001268	Mental deterioration	79641	ROGDI	ORPHA:1946
HP:0001268	Mental deterioration	6609	SMPD1	OMIM:607616
HP:0001268	Mental deterioration	3980	LIG3	OMIM:619780
HP:0001268	Mental deterioration	79587	CARS2	OMIM:616672
HP:0001268	Mental deterioration	80169	CTC1	OMIM:612199
HP:0001268	Mental deterioration	25978	CHMP2B	ORPHA:275864
HP:0001268	Mental deterioration	25978	CHMP2B	ORPHA:100070
HP:0001268	Mental deterioration	5663	PSEN1	ORPHA:275864
HP:0001268	Mental deterioration	5663	PSEN1	ORPHA:100070
HP:0001268	Mental deterioration	54664	TMEM106B	ORPHA:275864
HP:0001268	Mental deterioration	54664	TMEM106B	ORPHA:100070
HP:0001268	Mental deterioration	54209	TREM2	ORPHA:275864
HP:0001268	Mental deterioration	54209	TREM2	ORPHA:100070
HP:0001268	Mental deterioration	7415	VCP	ORPHA:275864
HP:0001268	Mental deterioration	7415	VCP	ORPHA:100070
HP:0001268	Mental deterioration	10749	KIF1C	OMIM:611302
HP:0001268	Mental deterioration	339453	TMEM240	OMIM:607454
HP:0001268	Mental deterioration	3145	HMBS	ORPHA:79276
HP:0001268	Mental deterioration	56978	PRDM8	ORPHA:324290
HP:0001268	Mental deterioration	2068	ERCC2	OMIM:278730
HP:0001268	Mental deterioration	410	ARSA	OMIM:250100
HP:0001268	Mental deterioration	29978	UBQLN2	OMIM:300857
HP:0001268	Mental deterioration	29978	UBQLN2	ORPHA:803
HP:0001268	Mental deterioration	7072	TIA1	OMIM:619133
HP:0001268	Mental deterioration	23435	TARDBP	OMIM:612069
HP:0001268	Mental deterioration	23435	TARDBP	ORPHA:275872
HP:0001268	Mental deterioration	23435	TARDBP	ORPHA:803
HP:0001268	Mental deterioration	7277	TUBA4A	OMIM:616208
HP:0001268	Mental deterioration	2521	FUS	ORPHA:275872
HP:0001268	Mental deterioration	2521	FUS	ORPHA:803
HP:0001268	Mental deterioration	3178	HNRNPA1	ORPHA:803
HP:0001268	Mental deterioration	3178	HNRNPA1	ORPHA:52430
HP:0001268	Mental deterioration	8148	TAF15	ORPHA:803
HP:0001268	Mental deterioration	5445	PON2	ORPHA:803
HP:0001268	Mental deterioration	9217	VAPB	ORPHA:803
HP:0001268	Mental deterioration	5630	PRPH	ORPHA:803
HP:0001268	Mental deterioration	55830	GLT8D1	ORPHA:803
HP:0001268	Mental deterioration	755	CFAP410	ORPHA:803
HP:0001268	Mental deterioration	10891	PPARGC1A	ORPHA:803
HP:0001268	Mental deterioration	6647	SOD1	ORPHA:803
HP:0001268	Mental deterioration	10133	OPTN	ORPHA:803
HP:0001268	Mental deterioration	9896	FIG4	ORPHA:803
HP:0001268	Mental deterioration	5444	PON1	ORPHA:803
HP:0001268	Mental deterioration	5446	PON3	ORPHA:803
HP:0001268	Mental deterioration	4744	NEFH	ORPHA:803
HP:0001268	Mental deterioration	5216	PFN1	ORPHA:803
HP:0001268	Mental deterioration	283	ANG	ORPHA:803
HP:0001268	Mental deterioration	2733	GLE1	ORPHA:803
HP:0001268	Mental deterioration	4750	NEK1	ORPHA:803
HP:0001268	Mental deterioration	1610	DAO	ORPHA:803
HP:0001268	Mental deterioration	23025	UNC13A	ORPHA:803
HP:0001268	Mental deterioration	899	CCNF	ORPHA:803
HP:0001268	Mental deterioration	899	CCNF	OMIM:619141
HP:0001268	Mental deterioration	3181	HNRNPA2B1	OMIM:615422
HP:0001268	Mental deterioration	3181	HNRNPA2B1	ORPHA:52430
HP:0001268	Mental deterioration	55131	RBM28	ORPHA:157954
HP:0001268	Mental deterioration	55131	RBM28	OMIM:612079
HP:0001268	Mental deterioration	7084	TK2	ORPHA:254875
HP:0001268	Mental deterioration	1203	CLN5	OMIM:256731
HP:0001268	Mental deterioration	4204	MECP2	OMIM:312750
HP:0001268	Mental deterioration	23732	FRRS1L	ORPHA:725
HP:0001268	Mental deterioration	2903	GRIN2A	ORPHA:725
HP:0001268	Mental deterioration	138050	HGSNAT	OMIM:252930
HP:0001268	Mental deterioration	25894	PLEKHG4	ORPHA:98765
HP:0001268	Mental deterioration	1497	CTNS	OMIM:219800
HP:0001268	Mental deterioration	26277	TINF2	OMIM:268130
HP:0001268	Mental deterioration	64849	SLC13A3	OMIM:618384
HP:0001268	Mental deterioration	3028	HSD17B10	OMIM:300438
HP:0001268	Mental deterioration	23516	SLC39A14	OMIM:617013
HP:0001268	Mental deterioration	100151683	RNU4ATAC	OMIM:210710
HP:0001268	Mental deterioration	2643	GCH1	OMIM:233910
HP:0001268	Mental deterioration	6507	SLC1A3	ORPHA:2131
HP:0001268	Mental deterioration	123263	MTFMT	OMIM:614947
HP:0001268	Mental deterioration	10128	LRPPRC	ORPHA:70472
HP:0001268	Mental deterioration	26275	HIBCH	ORPHA:88639
HP:0001268	Mental deterioration	8893	EIF2B5	OMIM:620315
HP:0001268	Mental deterioration	5873	RAB27A	OMIM:607624
HP:0001268	Mental deterioration	5805	PTS	OMIM:261640
HP:0001268	Mental deterioration	1537	CYC1	OMIM:615453
HP:0001268	Mental deterioration	125988	MICOS13	OMIM:618329
HP:0001268	Mental deterioration	57192	MCOLN1	OMIM:252650
HP:0001268	Mental deterioration	3172	HNF4A	ORPHA:263455
HP:0001268	Mental deterioration	5860	QDPR	OMIM:261630
HP:0001268	Mental deterioration	51300	TIMMDC1	OMIM:618251
HP:0001268	Mental deterioration	4700	NDUFA6	OMIM:618253
HP:0001268	Mental deterioration	3425	IDUA	OMIM:607014
HP:0001268	Mental deterioration	4669	NAGLU	OMIM:252920
HP:0001268	Mental deterioration	22796	COG2	ORPHA:435934
HP:0001268	Mental deterioration	4297	KMT2A	ORPHA:319182
HP:0001268	Mental deterioration	5538	PPT1	OMIM:256730
HP:0001268	Mental deterioration	246243	RNASEH1	ORPHA:329336
HP:0001268	Mental deterioration	112476	PRRT2	ORPHA:306
HP:0001268	Mental deterioration	3786	KCNQ3	ORPHA:306
HP:0001268	Mental deterioration	2584	GALK1	ORPHA:79237
HP:0001268	Mental deterioration	1387	CREBBP	ORPHA:353277
HP:0001268	Mental deterioration	1387	CREBBP	ORPHA:353281
HP:0001268	Mental deterioration	2033	EP300	ORPHA:353284
HP:0001268	Mental deterioration	23780	APOL2	OMIM:181500
HP:0001268	Mental deterioration	267012	DAOA	OMIM:181500
HP:0001268	Mental deterioration	3356	HTR2A	OMIM:181500
HP:0001268	Mental deterioration	6854	SYN2	OMIM:181500
HP:0001268	Mental deterioration	1814	DRD3	OMIM:181500
HP:0001268	Mental deterioration	1312	COMT	OMIM:181500
HP:0001268	Mental deterioration	27184	DISC2	OMIM:181500
HP:0001268	Mental deterioration	65078	RTN4R	OMIM:181500
HP:0001268	Mental deterioration	80832	APOL4	OMIM:181500
HP:0001268	Mental deterioration	1116	CHI3L1	OMIM:181500
HP:0001268	Mental deterioration	23203	PMPCA	ORPHA:1170
HP:0001268	Mental deterioration	2720	GLB1	OMIM:230600
HP:0001268	Mental deterioration	285362	SUMF1	ORPHA:585
HP:0001268	Mental deterioration	285362	SUMF1	OMIM:272200
HP:0007158	Progressive extrapyramidal muscular rigidity	5621	PRNP	ORPHA:282166
HP:0007158	Progressive extrapyramidal muscular rigidity	10367	MICU1	ORPHA:401768
HP:0007158	Progressive extrapyramidal muscular rigidity	4137	MAPT	ORPHA:240112
HP:0007158	Progressive extrapyramidal muscular rigidity	4137	MAPT	ORPHA:240103
HP:0007158	Progressive extrapyramidal muscular rigidity	4137	MAPT	ORPHA:240071
HP:0007158	Progressive extrapyramidal muscular rigidity	6872	TAF1	ORPHA:53351
HP:0007159	Fluctuations in consciousness	10165	SLC25A13	ORPHA:247585
HP:0007159	Fluctuations in consciousness	4558	MT-TF	ORPHA:550
HP:0007159	Fluctuations in consciousness	4572	MT-TQ	ORPHA:550
HP:0007159	Fluctuations in consciousness	4512	MT-CO1	ORPHA:550
HP:0007159	Fluctuations in consciousness	4513	MT-CO2	ORPHA:550
HP:0007159	Fluctuations in consciousness	4514	MT-CO3	ORPHA:550
HP:0007159	Fluctuations in consciousness	4578	MT-TW	ORPHA:550
HP:0007159	Fluctuations in consciousness	4540	MT-ND5	ORPHA:550
HP:0007159	Fluctuations in consciousness	4541	MT-ND6	ORPHA:550
HP:0007159	Fluctuations in consciousness	4535	MT-ND1	ORPHA:550
HP:0007159	Fluctuations in consciousness	4538	MT-ND4	ORPHA:550
HP:0007159	Fluctuations in consciousness	4567	MT-TL1	ORPHA:550
HP:0007159	Fluctuations in consciousness	4574	MT-TS1	ORPHA:550
HP:0007159	Fluctuations in consciousness	4575	MT-TS2	ORPHA:550
HP:0007159	Fluctuations in consciousness	4564	MT-TH	ORPHA:550
HP:0007159	Fluctuations in consciousness	210	ALAD	ORPHA:100924
HP:0007159	Fluctuations in consciousness	4221	MEN1	ORPHA:97279
HP:0007159	Fluctuations in consciousness	7528	YY1	ORPHA:97279
HP:0007159	Fluctuations in consciousness	6620	SNCB	OMIM:127750
HP:0007159	Fluctuations in consciousness	2629	GBA1	OMIM:127750
HP:0007159	Fluctuations in consciousness	6622	SNCA	OMIM:127750
HP:0033295	Mesangial Immune complex deposition	975	CD81	OMIM:613496
HP:0012462	Chin myoclonus	154881	KCTD7	ORPHA:263516
HP:0012463	Elevated transferrin saturation	55240	STEAP3	OMIM:615234
HP:0012463	Elevated transferrin saturation	654	BMP6	ORPHA:465508
HP:0012463	Elevated transferrin saturation	654	BMP6	OMIM:620121
HP:0012463	Elevated transferrin saturation	3077	HFE	ORPHA:465508
HP:0012463	Elevated transferrin saturation	57817	HAMP	OMIM:613313
HP:0012463	Elevated transferrin saturation	57817	HAMP	ORPHA:79230
HP:0012463	Elevated transferrin saturation	54977	SLC25A38	OMIM:205950
HP:0012463	Elevated transferrin saturation	148738	HJV	ORPHA:79230
HP:0012463	Elevated transferrin saturation	2495	FTH1	OMIM:615517
HP:0012463	Elevated transferrin saturation	5277	PIGA	OMIM:301072
HP:0012463	Elevated transferrin saturation	30061	SLC40A1	OMIM:606069
HP:0012463	Elevated transferrin saturation	7036	TFR2	OMIM:604250
HP:0012463	Elevated transferrin saturation	5313	PKLR	ORPHA:766
HP:0012464	Decreased transferrin saturation	2495	FTH1	OMIM:620669
HP:0012464	Decreased transferrin saturation	2512	FTL	OMIM:600886
HP:0012464	Decreased transferrin saturation	164656	TMPRSS6	ORPHA:209981
HP:0012464	Decreased transferrin saturation	55240	STEAP3	ORPHA:300298
HP:0012464	Decreased transferrin saturation	617	BCS1L	ORPHA:53693
HP:0012465	Elevated hepatic iron concentration	3043	HBB	ORPHA:231222
HP:0012465	Elevated hepatic iron concentration	55240	STEAP3	ORPHA:300298
HP:0012465	Elevated hepatic iron concentration	55240	STEAP3	OMIM:615234
HP:0012465	Elevated hepatic iron concentration	2512	FTL	ORPHA:254704
HP:0012465	Elevated hepatic iron concentration	51218	GLRX5	OMIM:616860
HP:0012465	Elevated hepatic iron concentration	5277	PIGA	OMIM:300868
HP:0012465	Elevated hepatic iron concentration	5277	PIGA	OMIM:301072
HP:0012465	Elevated hepatic iron concentration	54914	FOCAD	OMIM:619991
HP:0012465	Elevated hepatic iron concentration	4891	SLC11A2	OMIM:206100
HP:0012465	Elevated hepatic iron concentration	1356	CP	ORPHA:48818
HP:0012465	Elevated hepatic iron concentration	2495	FTH1	OMIM:615517
HP:0012465	Elevated hepatic iron concentration	10667	FARS2	OMIM:614946
HP:0012465	Elevated hepatic iron concentration	617	BCS1L	ORPHA:53693
HP:0012465	Elevated hepatic iron concentration	654	BMP6	OMIM:620121
HP:0012466	Chronic respiratory acidosis	78987	CRELD1	OMIM:620771
HP:0012468	Chronic acidosis	2937	GSS	OMIM:266130
HP:0012468	Chronic acidosis	617	BCS1L	OMIM:603358
HP:0012468	Chronic acidosis	5160	PDHA1	OMIM:312170
HP:0012468	Chronic acidosis	78987	CRELD1	OMIM:620771
HP:0012468	Chronic acidosis	6514	SLC2A2	OMIM:227810
HP:0012469	Infantile spasms	2639	GCDH	ORPHA:25
HP:0012469	Infantile spasms	199857	ALG14	OMIM:619031
HP:0012469	Infantile spasms	8243	SMC1A	OMIM:301044
HP:0012469	Infantile spasms	8243	SMC1A	ORPHA:3095
HP:0012469	Infantile spasms	79876	UBA5	OMIM:617132
HP:0012469	Infantile spasms	10617	STAMBP	OMIM:614261
HP:0012469	Infantile spasms	26235	FBXL4	OMIM:615471
HP:0012469	Infantile spasms	340533	NEXMIF	OMIM:300912
HP:0012469	Infantile spasms	2775	GNAO1	OMIM:617493
HP:0012469	Infantile spasms	2775	GNAO1	ORPHA:1934
HP:0012469	Infantile spasms	9759	HDAC4	OMIM:619797
HP:0012469	Infantile spasms	9853	RUSC2	OMIM:617773
HP:0012469	Infantile spasms	7355	SLC35A2	ORPHA:356961
HP:0012469	Infantile spasms	92335	STRADA	ORPHA:500533
HP:0012469	Infantile spasms	1798	DPAGT1	OMIM:608093
HP:0012469	Infantile spasms	51807	TUBA8	ORPHA:250972
HP:0012469	Infantile spasms	2653	GCSH	OMIM:620423
HP:0012469	Infantile spasms	55325	UFSP2	OMIM:620028
HP:0012469	Infantile spasms	84320	ACBD6	OMIM:620785
HP:0012469	Infantile spasms	6709	SPTAN1	OMIM:620540
HP:0012469	Infantile spasms	6709	SPTAN1	ORPHA:3451
HP:0012469	Infantile spasms	4076	CAPRIN1	OMIM:620782
HP:0012469	Infantile spasms	22845	DOLK	ORPHA:91131
HP:0012469	Infantile spasms	170302	ARX	OMIM:308350
HP:0012469	Infantile spasms	170302	ARX	ORPHA:3451
HP:0012469	Infantile spasms	170302	ARX	OMIM:309510
HP:0012469	Infantile spasms	170302	ARX	ORPHA:1934
HP:0012469	Infantile spasms	4535	MT-ND1	ORPHA:255210
HP:0012469	Infantile spasms	4536	MT-ND2	ORPHA:255210
HP:0012469	Infantile spasms	4537	MT-ND3	ORPHA:255210
HP:0012469	Infantile spasms	4538	MT-ND4	ORPHA:255210
HP:0012469	Infantile spasms	4567	MT-TL1	ORPHA:255210
HP:0012469	Infantile spasms	4578	MT-TW	ORPHA:255210
HP:0012469	Infantile spasms	4577	MT-TV	ORPHA:255210
HP:0012469	Infantile spasms	4508	MT-ATP6	ORPHA:255210
HP:0012469	Infantile spasms	4540	MT-ND5	ORPHA:255210
HP:0012469	Infantile spasms	4541	MT-ND6	ORPHA:255210
HP:0012469	Infantile spasms	4566	MT-TK	ORPHA:255210
HP:0012469	Infantile spasms	51412	ACTL6B	OMIM:618470
HP:0012469	Infantile spasms	6792	CDKL5	ORPHA:3095
HP:0012469	Infantile spasms	6792	CDKL5	ORPHA:505652
HP:0012469	Infantile spasms	6792	CDKL5	OMIM:300672
HP:0012469	Infantile spasms	6792	CDKL5	ORPHA:3451
HP:0012469	Infantile spasms	6792	CDKL5	ORPHA:1934
HP:0012469	Infantile spasms	22854	NTNG1	ORPHA:3095
HP:0012469	Infantile spasms	9568	GABBR2	ORPHA:3095
HP:0012469	Infantile spasms	9568	GABBR2	OMIM:617904
HP:0012469	Infantile spasms	4204	MECP2	ORPHA:3095
HP:0012469	Infantile spasms	26275	HIBCH	ORPHA:88639
HP:0012469	Infantile spasms	79868	ALG13	OMIM:300884
HP:0012469	Infantile spasms	79868	ALG13	ORPHA:324422
HP:0012469	Infantile spasms	51506	UFC1	OMIM:618076
HP:0012469	Infantile spasms	23030	KDM4B	OMIM:619320
HP:0012469	Infantile spasms	3745	KCNB1	OMIM:616056
HP:0012469	Infantile spasms	2782	GNB1	OMIM:616973
HP:0012469	Infantile spasms	7280	TUBB2A	OMIM:615763
HP:0012469	Infantile spasms	10565	ARFGEF1	OMIM:619964
HP:0012469	Infantile spasms	55768	NGLY1	ORPHA:404454
HP:0012469	Infantile spasms	23097	CDK19	OMIM:618916
HP:0012469	Infantile spasms	23499	MACF1	ORPHA:572013
HP:0012469	Infantile spasms	23499	MACF1	OMIM:618325
HP:0012469	Infantile spasms	387119	CEP85L	ORPHA:572013
HP:0012469	Infantile spasms	2192	FBLN1	ORPHA:404451
HP:0012469	Infantile spasms	161725	OTUD7A	OMIM:620790
HP:0012469	Infantile spasms	427	ASAH1	ORPHA:333
HP:0012469	Infantile spasms	347733	TUBB2B	ORPHA:467166
HP:0012469	Infantile spasms	347733	TUBB2B	OMIM:610031
HP:0012469	Infantile spasms	7846	TUBA1A	ORPHA:467166
HP:0012469	Infantile spasms	7846	TUBA1A	ORPHA:171680
HP:0012469	Infantile spasms	10381	TUBB3	ORPHA:467166
HP:0012469	Infantile spasms	112939	NACC1	OMIM:617393
HP:0012469	Infantile spasms	25885	POLR1A	OMIM:616462
HP:0012469	Infantile spasms	166378	AFG2A	ORPHA:457351
HP:0012469	Infantile spasms	7283	TUBG1	OMIM:615412
HP:0012469	Infantile spasms	79029	AFG2B	OMIM:619616
HP:0012469	Infantile spasms	9326	ZNHIT3	ORPHA:2836
HP:0012469	Infantile spasms	3054	HCFC1	OMIM:309541
HP:0012469	Infantile spasms	1183	CLCN4	ORPHA:485350
HP:0012469	Infantile spasms	686	BTD	ORPHA:79241
HP:0012469	Infantile spasms	9361	LONP1	ORPHA:79243
HP:0012469	Infantile spasms	5160	PDHA1	ORPHA:79243
HP:0012469	Infantile spasms	1000	CDH2	OMIM:618929
HP:0012469	Infantile spasms	128989	TANGO2	ORPHA:480864
HP:0012469	Infantile spasms	8131	NPRL3	ORPHA:98820
HP:0012469	Infantile spasms	10641	NPRL2	ORPHA:98820
HP:0012469	Infantile spasms	9681	DEPDC5	ORPHA:98820
HP:0012469	Infantile spasms	9681	DEPDC5	OMIM:620504
HP:0012469	Infantile spasms	25930	PTPN23	OMIM:618890
HP:0012469	Infantile spasms	5277	PIGA	OMIM:300868
HP:0012469	Infantile spasms	5277	PIGA	ORPHA:3451
HP:0012469	Infantile spasms	23327	NEDD4L	OMIM:617201
HP:0012469	Infantile spasms	4761	NEUROD2	OMIM:618374
HP:0012469	Infantile spasms	4761	NEUROD2	ORPHA:1934
HP:0012469	Infantile spasms	84896	ATAD1	OMIM:618011
HP:0012469	Infantile spasms	523	ATP6V1A	OMIM:618012
HP:0012469	Infantile spasms	55780	ERMARD	OMIM:615544
HP:0012469	Infantile spasms	56479	KCNQ5	OMIM:617601
HP:0012469	Infantile spasms	1641	DCX	ORPHA:2148
HP:0012469	Infantile spasms	284184	NDUFAF8	OMIM:618776
HP:0012469	Infantile spasms	1974	EIF4A2	OMIM:620455
HP:0012469	Infantile spasms	23312	DMXL2	OMIM:618663
HP:0012469	Infantile spasms	23312	DMXL2	ORPHA:1934
HP:0012469	Infantile spasms	6711	SPTBN1	OMIM:619475
HP:0012469	Infantile spasms	3458	IFNG	OMIM:613254
HP:0012469	Infantile spasms	3458	IFNG	ORPHA:805
HP:0012469	Infantile spasms	7249	TSC2	OMIM:613254
HP:0012469	Infantile spasms	7249	TSC2	ORPHA:805
HP:0012469	Infantile spasms	8452	CUL3	OMIM:619239
HP:0012469	Infantile spasms	490	ATP2B1	OMIM:619910
HP:0012469	Infantile spasms	2073	ERCC5	OMIM:278780
HP:0012469	Infantile spasms	3098	HK1	OMIM:618547
HP:0012469	Infantile spasms	85440	DOCK7	ORPHA:411986
HP:0012469	Infantile spasms	85440	DOCK7	OMIM:615859
HP:0012469	Infantile spasms	527	ATP6V0C	OMIM:620465
HP:0012469	Infantile spasms	9289	ADGRG1	ORPHA:98889
HP:0012469	Infantile spasms	5297	PI4KA	ORPHA:98889
HP:0012469	Infantile spasms	27286	SRPX2	ORPHA:98889
HP:0012469	Infantile spasms	80036	TRPM3	OMIM:620224
HP:0012469	Infantile spasms	85365	ALG2	ORPHA:79326
HP:0012469	Infantile spasms	85365	ALG2	OMIM:607906
HP:0012469	Infantile spasms	4247	MGAT2	ORPHA:79329
HP:0012469	Infantile spasms	728294	D2HGDH	OMIM:600721
HP:0012469	Infantile spasms	253959	RALGAPA1	OMIM:618797
HP:0012469	Infantile spasms	5594	MAPK1	OMIM:619087
HP:0012469	Infantile spasms	2566	GABRG2	OMIM:618396
HP:0012469	Infantile spasms	283989	TSEN54	ORPHA:2524
HP:0012469	Infantile spasms	116461	TSEN15	ORPHA:2524
HP:0012469	Infantile spasms	79042	TSEN34	ORPHA:2524
HP:0012469	Infantile spasms	80746	TSEN2	ORPHA:2524
HP:0012469	Infantile spasms	51091	SEPSECS	ORPHA:2524
HP:0012469	Infantile spasms	2904	GRIN2B	OMIM:616139
HP:0012469	Infantile spasms	2904	GRIN2B	ORPHA:3451
HP:0012469	Infantile spasms	10297	APC2	OMIM:618677
HP:0012469	Infantile spasms	7248	TSC1	OMIM:191100
HP:0012469	Infantile spasms	7248	TSC1	ORPHA:805
HP:0012469	Infantile spasms	112476	PRRT2	OMIM:128200
HP:0012469	Infantile spasms	112476	PRRT2	OMIM:602066
HP:0012469	Infantile spasms	221692	PHACTR1	ORPHA:3451
HP:0012469	Infantile spasms	6487	ST3GAL3	ORPHA:3451
HP:0012469	Infantile spasms	10695	CNPY3	ORPHA:3451
HP:0012469	Infantile spasms	23236	PLCB1	ORPHA:3451
HP:0012469	Infantile spasms	150094	SIK1	ORPHA:3451
HP:0012469	Infantile spasms	150094	SIK1	ORPHA:1934
HP:0012469	Infantile spasms	60558	GUF1	ORPHA:3451
HP:0012469	Infantile spasms	6326	SCN2A	ORPHA:3451
HP:0012469	Infantile spasms	6326	SCN2A	ORPHA:1934
HP:0012469	Infantile spasms	11152	WDR45	ORPHA:3451
HP:0012469	Infantile spasms	4915	NTRK2	ORPHA:3451
HP:0012469	Infantile spasms	1759	DNM1	OMIM:620352
HP:0012469	Infantile spasms	55739	NAXD	OMIM:618321
HP:0012469	Infantile spasms	2562	GABRB3	OMIM:617113
HP:0012469	Infantile spasms	26047	CNTNAP2	OMIM:610042
HP:0012469	Infantile spasms	55275	VPS53	OMIM:615851
HP:0012469	Infantile spasms	23219	FBXO28	OMIM:619777
HP:0012469	Infantile spasms	25974	MMACHC	ORPHA:79282
HP:0012469	Infantile spasms	1107	CHD3	OMIM:618205
HP:0012469	Infantile spasms	51294	PCDH12	OMIM:251280
HP:0012469	Infantile spasms	5048	PAFAH1B1	ORPHA:95232
HP:0012469	Infantile spasms	6509	SLC1A4	ORPHA:447997
HP:0012469	Infantile spasms	2776	GNAQ	ORPHA:3205
HP:0012469	Infantile spasms	2801	GOLGA2	OMIM:620240
HP:0012469	Infantile spasms	6812	STXBP1	ORPHA:599373
HP:0012469	Infantile spasms	80704	SLC19A3	ORPHA:263410
HP:0012469	Infantile spasms	51645	PPIL1	OMIM:619301
HP:0012469	Infantile spasms	1917	EEF1A2	OMIM:616393
HP:0012469	Infantile spasms	1468	SLC25A10	OMIM:618972
HP:0012469	Infantile spasms	51362	CDC40	OMIM:619302
HP:0012469	Infantile spasms	57647	DHX37	OMIM:618731
HP:0012469	Infantile spasms	1496	CTNNA2	OMIM:618174
HP:0012469	Infantile spasms	8803	SUCLA2	OMIM:612073
HP:0012469	Infantile spasms	2752	GLUL	OMIM:620806
HP:0012469	Infantile spasms	27133	KCNH5	OMIM:620537
HP:0012469	Infantile spasms	8449	DHX16	OMIM:618733
HP:0012469	Infantile spasms	55753	OGDHL	OMIM:619701
HP:0012469	Infantile spasms	81603	TRIM8	OMIM:619428
HP:0012469	Infantile spasms	81603	TRIM8	ORPHA:1934
HP:0012469	Infantile spasms	11342	RNF13	ORPHA:544503
HP:0012469	Infantile spasms	78987	CRELD1	OMIM:620771
HP:0012469	Infantile spasms	3736	KCNA1	ORPHA:1934
HP:0012469	Infantile spasms	9091	PIGQ	ORPHA:1934
HP:0012469	Infantile spasms	140679	SLC32A1	ORPHA:1934
HP:0012469	Infantile spasms	2902	GRIN1	ORPHA:1934
HP:0012469	Infantile spasms	2902	GRIN1	ORPHA:208447
HP:0012469	Infantile spasms	79751	SLC25A22	ORPHA:1934
HP:0012469	Infantile spasms	8573	CASK	ORPHA:1934
HP:0012469	Infantile spasms	2917	GRM7	ORPHA:1934
HP:0012469	Infantile spasms	11284	PNKP	ORPHA:1934
HP:0012469	Infantile spasms	51227	PIGP	ORPHA:1934
HP:0012469	Infantile spasms	6324	SCN1B	ORPHA:1934
HP:0007256	Abnormal pyramidal sign	85465	SELENOI	ORPHA:506353
HP:0007256	Abnormal pyramidal sign	85465	SELENOI	OMIM:618768
HP:0007256	Abnormal pyramidal sign	6515	SLC2A3	ORPHA:399
HP:0007256	Abnormal pyramidal sign	26235	FBXL4	OMIM:615471
HP:0007256	Abnormal pyramidal sign	10159	ATP6AP2	OMIM:300911
HP:0007256	Abnormal pyramidal sign	10159	ATP6AP2	ORPHA:93952
HP:0007256	Abnormal pyramidal sign	10159	ATP6AP2	OMIM:300423
HP:0007256	Abnormal pyramidal sign	10159	ATP6AP2	ORPHA:363654
HP:0007256	Abnormal pyramidal sign	9853	RUSC2	OMIM:617773
HP:0007256	Abnormal pyramidal sign	27247	NFU1	OMIM:620938
HP:0007256	Abnormal pyramidal sign	23446	SLC44A1	OMIM:618868
HP:0007256	Abnormal pyramidal sign	3145	HMBS	OMIM:620704
HP:0007256	Abnormal pyramidal sign	2895	GRID2	OMIM:616204
HP:0007256	Abnormal pyramidal sign	1786	DNMT1	ORPHA:314404
HP:0007256	Abnormal pyramidal sign	57165	GJC2	OMIM:608804
HP:0007256	Abnormal pyramidal sign	57165	GJC2	OMIM:613206
HP:0007256	Abnormal pyramidal sign	10908	PNPLA6	ORPHA:139480
HP:0007256	Abnormal pyramidal sign	10908	PNPLA6	OMIM:215470
HP:0007256	Abnormal pyramidal sign	10908	PNPLA6	OMIM:612020
HP:0007256	Abnormal pyramidal sign	8722	CTSF	OMIM:615362
HP:0007256	Abnormal pyramidal sign	1644	DDC	ORPHA:35708
HP:0007256	Abnormal pyramidal sign	1644	DDC	OMIM:608643
HP:0007256	Abnormal pyramidal sign	200205	IBA57	OMIM:616451
HP:0007256	Abnormal pyramidal sign	200205	IBA57	ORPHA:468661
HP:0007256	Abnormal pyramidal sign	10528	NOP56	OMIM:614153
HP:0007256	Abnormal pyramidal sign	10528	NOP56	ORPHA:276198
HP:0007256	Abnormal pyramidal sign	1841	DTYMK	OMIM:619847
HP:0007256	Abnormal pyramidal sign	57156	TMEM63C	OMIM:619966
HP:0007256	Abnormal pyramidal sign	57231	SNX14	ORPHA:397709
HP:0007256	Abnormal pyramidal sign	57231	SNX14	OMIM:616354
HP:0007256	Abnormal pyramidal sign	410	ARSA	ORPHA:309271
HP:0007256	Abnormal pyramidal sign	410	ARSA	ORPHA:309263
HP:0007256	Abnormal pyramidal sign	410	ARSA	OMIM:250100
HP:0007256	Abnormal pyramidal sign	410	ARSA	ORPHA:309256
HP:0007256	Abnormal pyramidal sign	5660	PSAP	ORPHA:309271
HP:0007256	Abnormal pyramidal sign	5660	PSAP	ORPHA:309263
HP:0007256	Abnormal pyramidal sign	5660	PSAP	OMIM:611721
HP:0007256	Abnormal pyramidal sign	5660	PSAP	ORPHA:309256
HP:0007256	Abnormal pyramidal sign	5660	PSAP	OMIM:249900
HP:0007256	Abnormal pyramidal sign	219285	SAMD9L	OMIM:159550
HP:0007256	Abnormal pyramidal sign	219285	SAMD9L	OMIM:619806
HP:0007256	Abnormal pyramidal sign	348	APOE	OMIM:607822
HP:0007256	Abnormal pyramidal sign	5663	PSEN1	OMIM:607822
HP:0007256	Abnormal pyramidal sign	7345	UCHL1	OMIM:615491
HP:0007256	Abnormal pyramidal sign	215	ABCD1	ORPHA:139399
HP:0007256	Abnormal pyramidal sign	64834	ELOVL1	OMIM:618527
HP:0007256	Abnormal pyramidal sign	51308	REEP2	OMIM:620606
HP:0007256	Abnormal pyramidal sign	51308	REEP2	OMIM:615625
HP:0007256	Abnormal pyramidal sign	311	ANXA11	OMIM:619733
HP:0007256	Abnormal pyramidal sign	311	ANXA11	ORPHA:803
HP:0007256	Abnormal pyramidal sign	7920	ABHD16A	OMIM:619735
HP:0007256	Abnormal pyramidal sign	8560	DEGS1	OMIM:618404
HP:0007256	Abnormal pyramidal sign	2074	ERCC6	OMIM:278800
HP:0007256	Abnormal pyramidal sign	343641	TGM6	ORPHA:276193
HP:0007256	Abnormal pyramidal sign	343641	TGM6	OMIM:613908
HP:0007256	Abnormal pyramidal sign	857	CAV1	OMIM:606721
HP:0007256	Abnormal pyramidal sign	55149	MTPAP	ORPHA:254343
HP:0007256	Abnormal pyramidal sign	55149	MTPAP	OMIM:613672
HP:0007256	Abnormal pyramidal sign	5297	PI4KA	OMIM:619621
HP:0007256	Abnormal pyramidal sign	5833	PCYT2	OMIM:618770
HP:0007256	Abnormal pyramidal sign	51271	UBAP1	OMIM:618418
HP:0007256	Abnormal pyramidal sign	51271	UBAP1	ORPHA:100993
HP:0007256	Abnormal pyramidal sign	492	ATP2B3	ORPHA:314978
HP:0007256	Abnormal pyramidal sign	9897	WASHC5	OMIM:603563
HP:0007256	Abnormal pyramidal sign	9897	WASHC5	ORPHA:100989
HP:0007256	Abnormal pyramidal sign	113612	CYP2U1	OMIM:615030
HP:0007256	Abnormal pyramidal sign	113612	CYP2U1	ORPHA:320411
HP:0007256	Abnormal pyramidal sign	10717	AP4B1	OMIM:614066
HP:0007256	Abnormal pyramidal sign	10717	AP4B1	ORPHA:280763
HP:0007256	Abnormal pyramidal sign	51604	PIGT	OMIM:615398
HP:0007256	Abnormal pyramidal sign	11154	AP4S1	OMIM:614067
HP:0007256	Abnormal pyramidal sign	11154	AP4S1	ORPHA:280763
HP:0007256	Abnormal pyramidal sign	23259	DDHD2	OMIM:615033
HP:0007256	Abnormal pyramidal sign	54902	TTC19	OMIM:615157
HP:0007256	Abnormal pyramidal sign	391356	PTRHD1	OMIM:620747
HP:0007256	Abnormal pyramidal sign	1615	DARS1	OMIM:615281
HP:0007256	Abnormal pyramidal sign	7358	UGDH	OMIM:618792
HP:0007256	Abnormal pyramidal sign	9474	ATG5	OMIM:617584
HP:0007256	Abnormal pyramidal sign	6506	SLC1A2	OMIM:617105
HP:0007256	Abnormal pyramidal sign	25973	PARS2	OMIM:618437
HP:0007256	Abnormal pyramidal sign	10667	FARS2	ORPHA:466722
HP:0007256	Abnormal pyramidal sign	10667	FARS2	OMIM:617046
HP:0007256	Abnormal pyramidal sign	56652	TWNK	OMIM:271245
HP:0007256	Abnormal pyramidal sign	56652	TWNK	OMIM:607459
HP:0007256	Abnormal pyramidal sign	10280	SIGMAR1	OMIM:605726
HP:0007256	Abnormal pyramidal sign	23299	BICD2	OMIM:615290
HP:0007256	Abnormal pyramidal sign	5981	RFC1	ORPHA:504476
HP:0007256	Abnormal pyramidal sign	5917	RARS1	OMIM:616140
HP:0007256	Abnormal pyramidal sign	339855	KY	ORPHA:496689
HP:0007256	Abnormal pyramidal sign	2395	FXN	OMIM:229300
HP:0007256	Abnormal pyramidal sign	2395	FXN	ORPHA:95
HP:0007256	Abnormal pyramidal sign	9725	TMEM63A	OMIM:618688
HP:0007256	Abnormal pyramidal sign	10229	COQ7	OMIM:620402
HP:0007256	Abnormal pyramidal sign	6683	SPAST	OMIM:182601
HP:0007256	Abnormal pyramidal sign	6683	SPAST	ORPHA:100985
HP:0007256	Abnormal pyramidal sign	51062	ATL1	OMIM:182600
HP:0007256	Abnormal pyramidal sign	51062	ATL1	ORPHA:100984
HP:0007256	Abnormal pyramidal sign	6843	VAMP1	ORPHA:251282
HP:0007256	Abnormal pyramidal sign	57192	MCOLN1	OMIM:252650
HP:0007256	Abnormal pyramidal sign	2512	FTL	ORPHA:157846
HP:0007256	Abnormal pyramidal sign	2512	FTL	OMIM:606159
HP:0007256	Abnormal pyramidal sign	54344	DPM3	ORPHA:263494
HP:0007256	Abnormal pyramidal sign	3658	IREB2	OMIM:618451
HP:0007256	Abnormal pyramidal sign	55280	CWF19L1	ORPHA:453521
HP:0007256	Abnormal pyramidal sign	2583	B4GALNT1	OMIM:609195
HP:0007256	Abnormal pyramidal sign	2583	B4GALNT1	ORPHA:101006
HP:0007256	Abnormal pyramidal sign	5277	PIGA	OMIM:301072
HP:0007256	Abnormal pyramidal sign	5277	PIGA	OMIM:300868
HP:0007256	Abnormal pyramidal sign	23111	SPART	OMIM:275900
HP:0007256	Abnormal pyramidal sign	23111	SPART	ORPHA:101000
HP:0007256	Abnormal pyramidal sign	126129	CPT1C	OMIM:616282
HP:0007256	Abnormal pyramidal sign	126129	CPT1C	ORPHA:444099
HP:0007256	Abnormal pyramidal sign	23516	SLC39A14	OMIM:617013
HP:0007256	Abnormal pyramidal sign	23516	SLC39A14	ORPHA:521406
HP:0007256	Abnormal pyramidal sign	23345	SYNE1	ORPHA:88644
HP:0007256	Abnormal pyramidal sign	4719	NDUFS1	OMIM:618226
HP:0007256	Abnormal pyramidal sign	51117	COQ4	OMIM:620666
HP:0007256	Abnormal pyramidal sign	7443	VRK1	OMIM:620542
HP:0007256	Abnormal pyramidal sign	5428	POLG	OMIM:258450
HP:0007256	Abnormal pyramidal sign	5428	POLG	OMIM:607459
HP:0007256	Abnormal pyramidal sign	9256	TSPOAP1	ORPHA:101150
HP:0007256	Abnormal pyramidal sign	9256	TSPOAP1	OMIM:620456
HP:0007256	Abnormal pyramidal sign	7054	TH	ORPHA:101150
HP:0007256	Abnormal pyramidal sign	123606	NIPA1	OMIM:600363
HP:0007256	Abnormal pyramidal sign	123606	NIPA1	ORPHA:100988
HP:0007256	Abnormal pyramidal sign	5631	PRPS1	ORPHA:423479
HP:0007256	Abnormal pyramidal sign	81790	RNF170	OMIM:619686
HP:0007256	Abnormal pyramidal sign	81790	RNF170	OMIM:608984
HP:0007256	Abnormal pyramidal sign	23114	NFASC	OMIM:618356
HP:0007256	Abnormal pyramidal sign	5610	EIF2AK2	OMIM:619687
HP:0007256	Abnormal pyramidal sign	116461	TSEN15	OMIM:617026
HP:0007256	Abnormal pyramidal sign	116461	TSEN15	ORPHA:2524
HP:0007256	Abnormal pyramidal sign	8492	PRSS12	OMIM:249500
HP:0007256	Abnormal pyramidal sign	157922	CAMSAP1	OMIM:620316
HP:0007256	Abnormal pyramidal sign	5010	CLDN11	OMIM:619328
HP:0007256	Abnormal pyramidal sign	2581	GALC	ORPHA:206448
HP:0007256	Abnormal pyramidal sign	25885	POLR1A	OMIM:620675
HP:0007256	Abnormal pyramidal sign	9179	AP4M1	OMIM:612936
HP:0007256	Abnormal pyramidal sign	9179	AP4M1	ORPHA:280763
HP:0007256	Abnormal pyramidal sign	547	KIF1A	ORPHA:101010
HP:0007256	Abnormal pyramidal sign	547	KIF1A	OMIM:610357
HP:0007256	Abnormal pyramidal sign	547	KIF1A	OMIM:614255
HP:0007256	Abnormal pyramidal sign	5071	PRKN	OMIM:600116
HP:0007256	Abnormal pyramidal sign	84340	GFM2	ORPHA:565624
HP:0007256	Abnormal pyramidal sign	84340	GFM2	OMIM:618397
HP:0007256	Abnormal pyramidal sign	80224	NUBPL	OMIM:618242
HP:0007256	Abnormal pyramidal sign	4547	MTTP	ORPHA:14
HP:0007256	Abnormal pyramidal sign	51102	MECR	OMIM:617282
HP:0007256	Abnormal pyramidal sign	5611	DNAJC3	OMIM:616192
HP:0007256	Abnormal pyramidal sign	5611	DNAJC3	ORPHA:445062
HP:0007256	Abnormal pyramidal sign	463	ZFHX3	OMIM:600223
HP:0007256	Abnormal pyramidal sign	80821	DDHD1	ORPHA:101008
HP:0007256	Abnormal pyramidal sign	80821	DDHD1	OMIM:609340
HP:0007256	Abnormal pyramidal sign	2705	GJB1	OMIM:302800
HP:0007256	Abnormal pyramidal sign	2705	GJB1	ORPHA:1175
HP:0007256	Abnormal pyramidal sign	1200	TPP1	OMIM:609270
HP:0007256	Abnormal pyramidal sign	1200	TPP1	ORPHA:284324
HP:0007256	Abnormal pyramidal sign	29967	LRP12	OMIM:620452
HP:0007256	Abnormal pyramidal sign	87178	PNPT1	ORPHA:101111
HP:0007256	Abnormal pyramidal sign	87178	PNPT1	OMIM:608703
HP:0007256	Abnormal pyramidal sign	1938	EEF2	ORPHA:101112
HP:0007256	Abnormal pyramidal sign	9197	SLC33A1	ORPHA:171863
HP:0007256	Abnormal pyramidal sign	9197	SLC33A1	OMIM:612539
HP:0007256	Abnormal pyramidal sign	2892	GRIA3	ORPHA:364028
HP:0007256	Abnormal pyramidal sign	9927	MFN2	OMIM:609260
HP:0007256	Abnormal pyramidal sign	9927	MFN2	ORPHA:99947
HP:0007256	Abnormal pyramidal sign	3839	KPNA3	OMIM:620106
HP:0007256	Abnormal pyramidal sign	3839	KPNA3	ORPHA:171612
HP:0007256	Abnormal pyramidal sign	538	ATP7A	OMIM:309400
HP:0007256	Abnormal pyramidal sign	3032	HADHB	ORPHA:746
HP:0007256	Abnormal pyramidal sign	3030	HADHA	ORPHA:746
HP:0007256	Abnormal pyramidal sign	22978	NT5C2	ORPHA:320396
HP:0007256	Abnormal pyramidal sign	22978	NT5C2	OMIM:613162
HP:0007256	Abnormal pyramidal sign	5375	PMP2	OMIM:618279
HP:0007256	Abnormal pyramidal sign	6472	SHMT2	OMIM:619121
HP:0007256	Abnormal pyramidal sign	6253	RTN2	OMIM:604805
HP:0007256	Abnormal pyramidal sign	6253	RTN2	ORPHA:100993
HP:0007256	Abnormal pyramidal sign	5173	PDYN	ORPHA:101108
HP:0007256	Abnormal pyramidal sign	5173	PDYN	OMIM:610245
HP:0007256	Abnormal pyramidal sign	10939	AFG3L2	ORPHA:101109
HP:0007256	Abnormal pyramidal sign	10939	AFG3L2	OMIM:610246
HP:0007256	Abnormal pyramidal sign	79152	FA2H	ORPHA:171629
HP:0007256	Abnormal pyramidal sign	79152	FA2H	OMIM:612319
HP:0007256	Abnormal pyramidal sign	25978	CHMP2B	OMIM:600795
HP:0007256	Abnormal pyramidal sign	25978	CHMP2B	ORPHA:803
HP:0007256	Abnormal pyramidal sign	23636	NUP62	ORPHA:225154
HP:0007256	Abnormal pyramidal sign	53371	NUP54	ORPHA:225154
HP:0007256	Abnormal pyramidal sign	6389	SDHA	OMIM:619259
HP:0007256	Abnormal pyramidal sign	6389	SDHA	ORPHA:3208
HP:0007256	Abnormal pyramidal sign	6389	SDHA	OMIM:252011
HP:0007256	Abnormal pyramidal sign	3739	KCNA4	OMIM:618284
HP:0007256	Abnormal pyramidal sign	7415	VCP	OMIM:613954
HP:0007256	Abnormal pyramidal sign	7415	VCP	ORPHA:275872
HP:0007256	Abnormal pyramidal sign	7415	VCP	ORPHA:329475
HP:0007256	Abnormal pyramidal sign	7415	VCP	ORPHA:803
HP:0007256	Abnormal pyramidal sign	124454	EARS2	OMIM:614924
HP:0007256	Abnormal pyramidal sign	54936	ADPRS	OMIM:618170
HP:0007256	Abnormal pyramidal sign	84842	HPDL	OMIM:619027
HP:0007256	Abnormal pyramidal sign	55129	ANO10	OMIM:613728
HP:0007256	Abnormal pyramidal sign	2643	GCH1	OMIM:128230
HP:0007256	Abnormal pyramidal sign	2643	GCH1	ORPHA:98808
HP:0007256	Abnormal pyramidal sign	9131	AIFM1	OMIM:300232
HP:0007256	Abnormal pyramidal sign	9131	AIFM1	ORPHA:83629
HP:0007256	Abnormal pyramidal sign	8506	CNTNAP1	OMIM:618186
HP:0007256	Abnormal pyramidal sign	400916	CHCHD10	OMIM:615911
HP:0007256	Abnormal pyramidal sign	400916	CHCHD10	ORPHA:275872
HP:0007256	Abnormal pyramidal sign	400916	CHCHD10	ORPHA:803
HP:0007256	Abnormal pyramidal sign	2521	FUS	ORPHA:275872
HP:0007256	Abnormal pyramidal sign	2521	FUS	ORPHA:803
HP:0007256	Abnormal pyramidal sign	23435	TARDBP	ORPHA:275872
HP:0007256	Abnormal pyramidal sign	23435	TARDBP	ORPHA:803
HP:0007256	Abnormal pyramidal sign	23435	TARDBP	OMIM:612069
HP:0007256	Abnormal pyramidal sign	29110	TBK1	ORPHA:275872
HP:0007256	Abnormal pyramidal sign	29110	TBK1	ORPHA:803
HP:0007256	Abnormal pyramidal sign	54209	TREM2	OMIM:618193
HP:0007256	Abnormal pyramidal sign	54209	TREM2	ORPHA:803
HP:0007256	Abnormal pyramidal sign	51506	UFC1	OMIM:618076
HP:0007256	Abnormal pyramidal sign	6311	ATXN2	OMIM:183090
HP:0007256	Abnormal pyramidal sign	6311	ATXN2	ORPHA:803
HP:0007256	Abnormal pyramidal sign	80055	PGAP1	OMIM:615802
HP:0007256	Abnormal pyramidal sign	80055	PGAP1	ORPHA:401820
HP:0007256	Abnormal pyramidal sign	23431	AP4E1	OMIM:613744
HP:0007256	Abnormal pyramidal sign	23431	AP4E1	ORPHA:280763
HP:0007256	Abnormal pyramidal sign	25778	DSTYK	OMIM:270750
HP:0007256	Abnormal pyramidal sign	116228	COX20	OMIM:619054
HP:0007256	Abnormal pyramidal sign	64207	IRF2BPL	OMIM:618088
HP:0007256	Abnormal pyramidal sign	55157	DARS2	ORPHA:137898
HP:0007256	Abnormal pyramidal sign	55157	DARS2	OMIM:611105
HP:0007256	Abnormal pyramidal sign	823	CAPN1	OMIM:616907
HP:0007256	Abnormal pyramidal sign	823	CAPN1	ORPHA:488594
HP:0007256	Abnormal pyramidal sign	10273	STUB1	OMIM:618093
HP:0007256	Abnormal pyramidal sign	10273	STUB1	OMIM:615768
HP:0007256	Abnormal pyramidal sign	22	ABCB7	OMIM:301310
HP:0007256	Abnormal pyramidal sign	100303755	PET117	OMIM:619063
HP:0007256	Abnormal pyramidal sign	4697	NDUFA4	OMIM:619065
HP:0007256	Abnormal pyramidal sign	65055	REEP1	OMIM:610250
HP:0007256	Abnormal pyramidal sign	26090	ABHD12	OMIM:612674
HP:0007256	Abnormal pyramidal sign	144165	PRICKLE1	OMIM:612437
HP:0007256	Abnormal pyramidal sign	5376	PMP22	ORPHA:3115
HP:0007256	Abnormal pyramidal sign	4359	MPZ	ORPHA:3115
HP:0007256	Abnormal pyramidal sign	1267	CNP	OMIM:619071
HP:0007256	Abnormal pyramidal sign	4744	NEFH	OMIM:616924
HP:0007256	Abnormal pyramidal sign	4744	NEFH	ORPHA:803
HP:0007256	Abnormal pyramidal sign	90624	LYRM7	OMIM:615838
HP:0007256	Abnormal pyramidal sign	1282	COL4A1	OMIM:175780
HP:0007256	Abnormal pyramidal sign	64837	KLC2	OMIM:609541
HP:0007256	Abnormal pyramidal sign	11128	POLR3A	ORPHA:447896
HP:0007256	Abnormal pyramidal sign	11128	POLR3A	OMIM:607694
HP:0007256	Abnormal pyramidal sign	23503	ZFYVE26	OMIM:270700
HP:0007256	Abnormal pyramidal sign	23503	ZFYVE26	ORPHA:100996
HP:0007256	Abnormal pyramidal sign	9409	PEX16	OMIM:614877
HP:0007256	Abnormal pyramidal sign	8242	KDM5C	OMIM:300534
HP:0007256	Abnormal pyramidal sign	6390	SDHB	ORPHA:3208
HP:0007256	Abnormal pyramidal sign	6392	SDHD	ORPHA:3208
HP:0007256	Abnormal pyramidal sign	644096	SDHAF1	ORPHA:3208
HP:0007256	Abnormal pyramidal sign	3954	LETM1	OMIM:620089
HP:0007256	Abnormal pyramidal sign	4556	MT-TE	ORPHA:2596
HP:0007256	Abnormal pyramidal sign	3178	HNRNPA1	ORPHA:803
HP:0007256	Abnormal pyramidal sign	8148	TAF15	ORPHA:803
HP:0007256	Abnormal pyramidal sign	5445	PON2	ORPHA:803
HP:0007256	Abnormal pyramidal sign	5630	PRPH	ORPHA:803
HP:0007256	Abnormal pyramidal sign	55830	GLT8D1	ORPHA:803
HP:0007256	Abnormal pyramidal sign	755	CFAP410	ORPHA:803
HP:0007256	Abnormal pyramidal sign	10891	PPARGC1A	ORPHA:803
HP:0007256	Abnormal pyramidal sign	10133	OPTN	ORPHA:803
HP:0007256	Abnormal pyramidal sign	1639	DCTN1	ORPHA:803
HP:0007256	Abnormal pyramidal sign	9896	FIG4	ORPHA:803
HP:0007256	Abnormal pyramidal sign	5444	PON1	ORPHA:803
HP:0007256	Abnormal pyramidal sign	5446	PON3	ORPHA:803
HP:0007256	Abnormal pyramidal sign	5216	PFN1	ORPHA:803
HP:0007256	Abnormal pyramidal sign	9782	MATR3	ORPHA:803
HP:0007256	Abnormal pyramidal sign	283	ANG	ORPHA:803
HP:0007256	Abnormal pyramidal sign	29978	UBQLN2	ORPHA:803
HP:0007256	Abnormal pyramidal sign	2733	GLE1	ORPHA:803
HP:0007256	Abnormal pyramidal sign	4750	NEK1	ORPHA:803
HP:0007256	Abnormal pyramidal sign	1610	DAO	ORPHA:803
HP:0007256	Abnormal pyramidal sign	2066	ERBB4	ORPHA:803
HP:0007256	Abnormal pyramidal sign	23025	UNC13A	ORPHA:803
HP:0007256	Abnormal pyramidal sign	899	CCNF	ORPHA:803
HP:0007256	Abnormal pyramidal sign	6314	ATXN7	ORPHA:94147
HP:0007256	Abnormal pyramidal sign	6314	ATXN7	OMIM:164500
HP:0007256	Abnormal pyramidal sign	3798	KIF5A	ORPHA:100991
HP:0007256	Abnormal pyramidal sign	3798	KIF5A	OMIM:604187
HP:0007256	Abnormal pyramidal sign	80207	OPA3	OMIM:258501
HP:0007256	Abnormal pyramidal sign	1861	TOR1A	OMIM:128100
HP:0007256	Abnormal pyramidal sign	4976	OPA1	OMIM:210000
HP:0007256	Abnormal pyramidal sign	6310	ATXN1	OMIM:164400
HP:0007256	Abnormal pyramidal sign	3736	KCNA1	OMIM:160120
HP:0007256	Abnormal pyramidal sign	9420	CYP7B1	ORPHA:100986
HP:0007256	Abnormal pyramidal sign	9420	CYP7B1	OMIM:270800
HP:0007256	Abnormal pyramidal sign	2258	FGF13	OMIM:301058
HP:0007256	Abnormal pyramidal sign	57505	AARS2	OMIM:615889
HP:0007256	Abnormal pyramidal sign	84679	SLC9A7	OMIM:301024
HP:0007256	Abnormal pyramidal sign	10342	TFG	ORPHA:431329
HP:0007256	Abnormal pyramidal sign	10342	TFG	OMIM:615658
HP:0007256	Abnormal pyramidal sign	4204	MECP2	OMIM:300055
HP:0007256	Abnormal pyramidal sign	51741	WWOX	OMIM:614322
HP:0007256	Abnormal pyramidal sign	91137	SLC25A46	OMIM:616505
HP:0007256	Abnormal pyramidal sign	54463	RETREG1	OMIM:613115
HP:0007256	Abnormal pyramidal sign	80746	TSEN2	OMIM:612389
HP:0007256	Abnormal pyramidal sign	80746	TSEN2	ORPHA:2524
HP:0007256	Abnormal pyramidal sign	1737	DLAT	ORPHA:79244
HP:0007256	Abnormal pyramidal sign	128989	TANGO2	ORPHA:480864
HP:0007256	Abnormal pyramidal sign	128989	TANGO2	OMIM:616878
HP:0007256	Abnormal pyramidal sign	128637	TBC1D20	OMIM:615663
HP:0007256	Abnormal pyramidal sign	58494	JAM2	OMIM:618824
HP:0007256	Abnormal pyramidal sign	22948	CCT5	ORPHA:139578
HP:0007256	Abnormal pyramidal sign	22948	CCT5	OMIM:256840
HP:0007256	Abnormal pyramidal sign	4929	NR4A2	ORPHA:98808
HP:0007256	Abnormal pyramidal sign	3615	IMPDH2	ORPHA:98808
HP:0007256	Abnormal pyramidal sign	10613	ERLIN1	OMIM:615681
HP:0007256	Abnormal pyramidal sign	283989	TSEN54	ORPHA:2524
HP:0007256	Abnormal pyramidal sign	79042	TSEN34	ORPHA:2524
HP:0007256	Abnormal pyramidal sign	51091	SEPSECS	ORPHA:2524
HP:0007256	Abnormal pyramidal sign	271	AMPD2	OMIM:615686
HP:0007256	Abnormal pyramidal sign	57570	TRMT5	OMIM:616539
HP:0007256	Abnormal pyramidal sign	6509	SLC1A4	OMIM:616657
HP:0007256	Abnormal pyramidal sign	9215	LARGE1	OMIM:608840
HP:0007256	Abnormal pyramidal sign	51	ACOX1	OMIM:264470
HP:0007256	Abnormal pyramidal sign	29920	PYCR2	OMIM:616420
HP:0007256	Abnormal pyramidal sign	22943	DKK1	ORPHA:268882
HP:0007256	Abnormal pyramidal sign	4724	NDUFS4	OMIM:252010
HP:0007256	Abnormal pyramidal sign	8086	AAAS	OMIM:231550
HP:0007256	Abnormal pyramidal sign	51663	ZFR	ORPHA:401840
HP:0007256	Abnormal pyramidal sign	84706	GPT2	ORPHA:477673
HP:0007256	Abnormal pyramidal sign	1968	EIF2S3	OMIM:300148
HP:0007256	Abnormal pyramidal sign	7305	TYROBP	OMIM:221770
HP:0007256	Abnormal pyramidal sign	4747	NEFL	OMIM:617882
HP:0007256	Abnormal pyramidal sign	221927	BRAT1	OMIM:614498
HP:0007256	Abnormal pyramidal sign	54820	NDE1	OMIM:614019
HP:0007256	Abnormal pyramidal sign	6095	RORA	OMIM:618060
HP:0007256	Abnormal pyramidal sign	10749	KIF1C	ORPHA:397946
HP:0007256	Abnormal pyramidal sign	5621	PRNP	ORPHA:282166
HP:0007256	Abnormal pyramidal sign	5621	PRNP	ORPHA:466
HP:0007256	Abnormal pyramidal sign	10134	BCAP31	OMIM:300475
HP:0007256	Abnormal pyramidal sign	10134	BCAP31	ORPHA:369939
HP:0007256	Abnormal pyramidal sign	55703	POLR3B	OMIM:614381
HP:0007256	Abnormal pyramidal sign	91574	MTRFR	ORPHA:254930
HP:0007256	Abnormal pyramidal sign	4099	MAG	OMIM:616680
HP:0007256	Abnormal pyramidal sign	4099	MAG	ORPHA:459056
HP:0007256	Abnormal pyramidal sign	6873	TAF2	OMIM:615599
HP:0007256	Abnormal pyramidal sign	6873	TAF2	ORPHA:397951
HP:0007256	Abnormal pyramidal sign	22880	MORC2	OMIM:616688
HP:0007256	Abnormal pyramidal sign	50484	RRM2B	ORPHA:329336
HP:0007256	Abnormal pyramidal sign	246243	RNASEH1	ORPHA:329336
HP:0007256	Abnormal pyramidal sign	246243	RNASEH1	OMIM:616479
HP:0007256	Abnormal pyramidal sign	10059	DNM1L	OMIM:614388
HP:0007256	Abnormal pyramidal sign	1593	CYP27A1	OMIM:213700
HP:0007256	Abnormal pyramidal sign	1593	CYP27A1	ORPHA:909
HP:0007256	Abnormal pyramidal sign	84334	COA8	ORPHA:436271
HP:0007256	Abnormal pyramidal sign	123263	MTFMT	OMIM:614947
HP:0007256	Abnormal pyramidal sign	5457	POU4F1	ORPHA:314647
HP:0007256	Abnormal pyramidal sign	23261	CAMTA1	ORPHA:314647
HP:0007256	Abnormal pyramidal sign	57679	ALS2	ORPHA:247604
HP:0007256	Abnormal pyramidal sign	57679	ALS2	ORPHA:293168
HP:0007256	Abnormal pyramidal sign	11160	ERLIN2	ORPHA:247604
HP:0007256	Abnormal pyramidal sign	6687	SPG7	ORPHA:99013
HP:0007256	Abnormal pyramidal sign	4072	EPCAM	ORPHA:144
HP:0007256	Abnormal pyramidal sign	4292	MLH1	ORPHA:144
HP:0007256	Abnormal pyramidal sign	5395	PMS2	ORPHA:144
HP:0007256	Abnormal pyramidal sign	7048	TGFBR2	ORPHA:144
HP:0007256	Abnormal pyramidal sign	3845	KRAS	ORPHA:144
HP:0007256	Abnormal pyramidal sign	5290	PIK3CA	ORPHA:144
HP:0007256	Abnormal pyramidal sign	2956	MSH6	ORPHA:144
HP:0007256	Abnormal pyramidal sign	5378	PMS1	ORPHA:144
HP:0007256	Abnormal pyramidal sign	4436	MSH2	ORPHA:144
HP:0007256	Abnormal pyramidal sign	3074	HEXB	ORPHA:309162
HP:0007256	Abnormal pyramidal sign	6531	SLC6A3	ORPHA:238455
HP:0007256	Abnormal pyramidal sign	6531	SLC6A3	OMIM:613135
HP:0007256	Abnormal pyramidal sign	56997	COQ8A	ORPHA:139485
HP:0007256	Abnormal pyramidal sign	56997	COQ8A	OMIM:612016
HP:0007256	Abnormal pyramidal sign	64218	SEMA4A	ORPHA:440437
HP:0007256	Abnormal pyramidal sign	472	ATM	ORPHA:440437
HP:0007256	Abnormal pyramidal sign	5426	POLE	ORPHA:440437
HP:0007256	Abnormal pyramidal sign	675	BRCA2	ORPHA:440437
HP:0007256	Abnormal pyramidal sign	657	BMPR1A	ORPHA:440437
HP:0007256	Abnormal pyramidal sign	6224	RPS20	ORPHA:440437
HP:0007256	Abnormal pyramidal sign	4595	MUTYH	ORPHA:440437
HP:0007256	Abnormal pyramidal sign	5424	POLD1	ORPHA:440437
HP:0007256	Abnormal pyramidal sign	11200	CHEK2	ORPHA:440437
HP:0007256	Abnormal pyramidal sign	57465	TBC1D24	ORPHA:352596
HP:0007256	Abnormal pyramidal sign	25914	RTTN	OMIM:614833
HP:0007256	Abnormal pyramidal sign	25914	RTTN	ORPHA:468631
HP:0007256	Abnormal pyramidal sign	224	ALDH3A2	ORPHA:816
HP:0007256	Abnormal pyramidal sign	2911	GRM1	OMIM:614831
HP:0007256	Abnormal pyramidal sign	26580	BSCL2	OMIM:615924
HP:0007256	Abnormal pyramidal sign	26580	BSCL2	ORPHA:363400
HP:0007256	Abnormal pyramidal sign	23474	ETHE1	ORPHA:51188
HP:0007256	Abnormal pyramidal sign	51204	TACO1	OMIM:619052
HP:0007256	Abnormal pyramidal sign	8575	PRKRA	ORPHA:210571
HP:0007256	Abnormal pyramidal sign	8575	PRKRA	OMIM:612067
HP:0007256	Abnormal pyramidal sign	4137	MAPT	ORPHA:240071
HP:0007256	Abnormal pyramidal sign	4137	MAPT	ORPHA:240103
HP:0007256	Abnormal pyramidal sign	4137	MAPT	OMIM:260540
HP:0007256	Abnormal pyramidal sign	7343	UBTF	OMIM:617672
HP:0007256	Abnormal pyramidal sign	7343	UBTF	ORPHA:500180
HP:0007256	Abnormal pyramidal sign	3064	HTT	OMIM:617435
HP:0007256	Abnormal pyramidal sign	6575	SLC20A2	OMIM:213600
HP:0007256	Abnormal pyramidal sign	5159	PDGFRB	OMIM:213600
HP:0007256	Abnormal pyramidal sign	5155	PDGFB	OMIM:213600
HP:0007256	Abnormal pyramidal sign	8398	PLA2G6	ORPHA:35069
HP:0007256	Abnormal pyramidal sign	8398	PLA2G6	OMIM:256600
HP:0007256	Abnormal pyramidal sign	6513	SLC2A1	OMIM:601042
HP:0007256	Abnormal pyramidal sign	6513	SLC2A1	ORPHA:1942
HP:0007256	Abnormal pyramidal sign	6513	SLC2A1	ORPHA:53583
HP:0007256	Abnormal pyramidal sign	7276	TTR	OMIM:105210
HP:0007256	Abnormal pyramidal sign	55187	VPS13D	ORPHA:95434
HP:0007256	Abnormal pyramidal sign	55187	VPS13D	OMIM:607317
HP:0007256	Abnormal pyramidal sign	27072	VPS41	ORPHA:95434
HP:0007256	Abnormal pyramidal sign	7274	TTPA	ORPHA:96
HP:0007256	Abnormal pyramidal sign	23400	ATP13A2	ORPHA:513436
HP:0007256	Abnormal pyramidal sign	23400	ATP13A2	ORPHA:306674
HP:0007256	Abnormal pyramidal sign	23400	ATP13A2	OMIM:617225
HP:0007256	Abnormal pyramidal sign	26278	SACS	ORPHA:98
HP:0007256	Abnormal pyramidal sign	84504	NKX6-2	OMIM:617560
HP:0007256	Abnormal pyramidal sign	84504	NKX6-2	ORPHA:527497
HP:0007256	Abnormal pyramidal sign	83636	C19orf12	OMIM:614298
HP:0007256	Abnormal pyramidal sign	833	CARS1	OMIM:618891
HP:0007256	Abnormal pyramidal sign	833	CARS1	ORPHA:33364
HP:0007256	Abnormal pyramidal sign	27235	COQ2	ORPHA:98933
HP:0007256	Abnormal pyramidal sign	27235	COQ2	ORPHA:227510
HP:0007256	Abnormal pyramidal sign	5192	PEX10	ORPHA:247815
HP:0007256	Abnormal pyramidal sign	5654	HTRA1	ORPHA:199354
HP:0007256	Abnormal pyramidal sign	5654	HTRA1	OMIM:600142
HP:0007256	Abnormal pyramidal sign	3735	KARS1	OMIM:619196
HP:0007256	Abnormal pyramidal sign	443	ASPA	OMIM:271900
HP:0007256	Abnormal pyramidal sign	23312	DMXL2	ORPHA:453533
HP:0007256	Abnormal pyramidal sign	23533	PIK3R5	ORPHA:64753
HP:0007256	Abnormal pyramidal sign	23064	SETX	ORPHA:64753
HP:0007256	Abnormal pyramidal sign	23064	SETX	OMIM:606002
HP:0007256	Abnormal pyramidal sign	23064	SETX	ORPHA:357043
HP:0007256	Abnormal pyramidal sign	9255	AIMP1	OMIM:260600
HP:0007256	Abnormal pyramidal sign	773	CACNA1A	ORPHA:2131
HP:0007256	Abnormal pyramidal sign	6507	SLC1A3	ORPHA:2131
HP:0007256	Abnormal pyramidal sign	477	ATP1A2	ORPHA:2131
HP:0007256	Abnormal pyramidal sign	478	ATP1A3	ORPHA:2131
HP:0007256	Abnormal pyramidal sign	4191	MDH2	OMIM:617339
HP:0007256	Abnormal pyramidal sign	146057	TTBK2	ORPHA:98767
HP:0007256	Abnormal pyramidal sign	5354	PLP1	ORPHA:280219
HP:0007256	Abnormal pyramidal sign	5354	PLP1	OMIM:312080
HP:0007256	Abnormal pyramidal sign	80704	SLC19A3	OMIM:607483
HP:0007256	Abnormal pyramidal sign	80025	PANK2	OMIM:234200
HP:0007256	Abnormal pyramidal sign	80025	PANK2	ORPHA:216873
HP:0007256	Abnormal pyramidal sign	2517	FUCA1	ORPHA:349
HP:0007256	Abnormal pyramidal sign	9289	ADGRG1	ORPHA:101070
HP:0007256	Abnormal pyramidal sign	5728	PTEN	ORPHA:101070
HP:0007256	Abnormal pyramidal sign	5521	PPP2R2B	ORPHA:98762
HP:0007256	Abnormal pyramidal sign	3708	ITPR1	OMIM:117360
HP:0007256	Abnormal pyramidal sign	3708	ITPR1	OMIM:206700
HP:0007256	Abnormal pyramidal sign	57462	MYORG	OMIM:618317
HP:0007256	Abnormal pyramidal sign	11261	CHP1	OMIM:618438
HP:0007256	Abnormal pyramidal sign	3662	IRF4	ORPHA:3452
HP:0007256	Abnormal pyramidal sign	6908	TBP	ORPHA:98759
HP:0007256	Abnormal pyramidal sign	6324	SCN1B	OMIM:617350
HP:0007256	Abnormal pyramidal sign	11284	PNKP	OMIM:616267
HP:0007256	Abnormal pyramidal sign	404672	GTF2H5	ORPHA:33364
HP:0007256	Abnormal pyramidal sign	2068	ERCC2	ORPHA:33364
HP:0007256	Abnormal pyramidal sign	7737	RNF113A	ORPHA:33364
HP:0007256	Abnormal pyramidal sign	136647	MPLKIP	ORPHA:33364
HP:0007256	Abnormal pyramidal sign	6897	TARS1	ORPHA:33364
HP:0007256	Abnormal pyramidal sign	16	AARS1	ORPHA:33364
HP:0007256	Abnormal pyramidal sign	2071	ERCC3	ORPHA:33364
HP:0007256	Abnormal pyramidal sign	2961	GTF2E2	ORPHA:33364
HP:0007256	Abnormal pyramidal sign	200403	VWA3B	OMIM:616948
HP:0007256	Abnormal pyramidal sign	8831	SYNGAP1	ORPHA:1942
HP:0007256	Abnormal pyramidal sign	1173	AP2M1	ORPHA:1942
HP:0007256	Abnormal pyramidal sign	6323	SCN1A	ORPHA:1942
HP:0007256	Abnormal pyramidal sign	6323	SCN1A	OMIM:607208
HP:0007256	Abnormal pyramidal sign	340533	NEXMIF	ORPHA:1942
HP:0007256	Abnormal pyramidal sign	1106	CHD2	ORPHA:1942
HP:0007256	Abnormal pyramidal sign	6529	SLC6A1	ORPHA:1942
HP:0007256	Abnormal pyramidal sign	5832	ALDH18A1	ORPHA:447753
HP:0007256	Abnormal pyramidal sign	3329	HSPD1	ORPHA:100994
HP:0007256	Abnormal pyramidal sign	6567	SLC16A2	ORPHA:59
HP:0007256	Abnormal pyramidal sign	3980	LIG3	OMIM:619780
HP:0007256	Abnormal pyramidal sign	25793	FBXO7	ORPHA:171695
HP:0007256	Abnormal pyramidal sign	6622	SNCA	ORPHA:171695
HP:0007256	Abnormal pyramidal sign	120	ADD3	OMIM:617008
HP:0007256	Abnormal pyramidal sign	6709	SPTAN1	OMIM:620538
HP:0007256	Abnormal pyramidal sign	10535	RNASEH2A	ORPHA:51
HP:0007256	Abnormal pyramidal sign	84153	RNASEH2C	ORPHA:51
HP:0007256	Abnormal pyramidal sign	25939	SAMHD1	ORPHA:51
HP:0007256	Abnormal pyramidal sign	79621	RNASEH2B	ORPHA:51
HP:0007256	Abnormal pyramidal sign	103	ADAR	ORPHA:51
HP:0007256	Abnormal pyramidal sign	11277	TREX1	ORPHA:51
HP:0007256	Abnormal pyramidal sign	100147744	RNU7-1	ORPHA:51
HP:0007256	Abnormal pyramidal sign	134353	LSM11	ORPHA:51
HP:0007256	Abnormal pyramidal sign	64135	IFIH1	ORPHA:51
HP:0007256	Abnormal pyramidal sign	4001	LMNB1	ORPHA:99027
HP:0007256	Abnormal pyramidal sign	149233	IL23R	ORPHA:117
HP:0007256	Abnormal pyramidal sign	6775	STAT4	ORPHA:117
HP:0007256	Abnormal pyramidal sign	3586	IL10	ORPHA:117
HP:0007256	Abnormal pyramidal sign	4210	MEFV	ORPHA:117
HP:0007256	Abnormal pyramidal sign	1230	CCR1	ORPHA:117
HP:0007256	Abnormal pyramidal sign	355	FAS	ORPHA:117
HP:0007256	Abnormal pyramidal sign	3592	IL12A	ORPHA:117
HP:0007256	Abnormal pyramidal sign	101928376	IL12A-AS1	ORPHA:117
HP:0007256	Abnormal pyramidal sign	3106	HLA-B	ORPHA:117
HP:0007256	Abnormal pyramidal sign	7099	TLR4	ORPHA:117
HP:0007256	Abnormal pyramidal sign	3459	IFNGR1	ORPHA:117
HP:0007256	Abnormal pyramidal sign	720	C4A	ORPHA:117
HP:0007256	Abnormal pyramidal sign	337867	UBAC2	ORPHA:117
HP:0007256	Abnormal pyramidal sign	51752	ERAP1	ORPHA:117
HP:0007256	Abnormal pyramidal sign	8302	KLRC4	ORPHA:117
HP:0007256	Abnormal pyramidal sign	374291	NDUFS7	OMIM:618224
HP:0007256	Abnormal pyramidal sign	54832	VPS13C	OMIM:616840
HP:0007256	Abnormal pyramidal sign	57704	GBA2	ORPHA:352641
HP:0007256	Abnormal pyramidal sign	57704	GBA2	ORPHA:320391
HP:0007256	Abnormal pyramidal sign	4508	MT-ATP6	ORPHA:320360
HP:0007256	Abnormal pyramidal sign	4720	NDUFS2	OMIM:618228
HP:0007256	Abnormal pyramidal sign	79903	NAA60	OMIM:620786
HP:0007256	Abnormal pyramidal sign	170302	ARX	OMIM:308350
HP:0007256	Abnormal pyramidal sign	81570	CLPB	ORPHA:445038
HP:0007256	Abnormal pyramidal sign	6315	ATXN8OS	OMIM:608768
HP:0007256	Abnormal pyramidal sign	724066	ATXN8	OMIM:608768
HP:0007256	Abnormal pyramidal sign	3748	KCNC3	OMIM:605259
HP:0007256	Abnormal pyramidal sign	6647	SOD1	OMIM:618598
HP:0007256	Abnormal pyramidal sign	25814	ATXN10	OMIM:603516
HP:0007256	Abnormal pyramidal sign	79868	ALG13	OMIM:300884
HP:0007256	Abnormal pyramidal sign	8878	SQSTM1	OMIM:617145
HP:0007256	Abnormal pyramidal sign	9829	DNAJC6	OMIM:615528
HP:0007256	Abnormal pyramidal sign	9829	DNAJC6	ORPHA:391411
HP:0007256	Abnormal pyramidal sign	51218	GLRX5	OMIM:616859
HP:0007256	Abnormal pyramidal sign	10166	SLC25A15	ORPHA:415
HP:0007256	Abnormal pyramidal sign	10166	SLC25A15	OMIM:238970
HP:0007256	Abnormal pyramidal sign	79944	L2HGDH	OMIM:236792
HP:0007256	Abnormal pyramidal sign	727676	SNORD118	OMIM:614561
HP:0007256	Abnormal pyramidal sign	727676	SNORD118	ORPHA:542310
HP:0007256	Abnormal pyramidal sign	4125	MAN2B1	OMIM:248500
HP:0007256	Abnormal pyramidal sign	2058	EPRS1	OMIM:617951
HP:0007256	Abnormal pyramidal sign	6663	SOX10	ORPHA:163746
HP:0007256	Abnormal pyramidal sign	51079	NDUFA13	OMIM:618249
HP:0007256	Abnormal pyramidal sign	54974	THG1L	OMIM:618800
HP:0007256	Abnormal pyramidal sign	259232	NALCN	OMIM:615419
HP:0007256	Abnormal pyramidal sign	80208	SPG11	OMIM:602099
HP:0007256	Abnormal pyramidal sign	2632	GBE1	ORPHA:206583
HP:0007256	Abnormal pyramidal sign	9217	VAPB	OMIM:608627
HP:0007256	Abnormal pyramidal sign	51324	SPG21	ORPHA:101001
HP:0007256	Abnormal pyramidal sign	54664	TMEM106B	OMIM:617964
HP:0007256	Abnormal pyramidal sign	84668	HYCC1	OMIM:610532
HP:0007256	Abnormal pyramidal sign	84668	HYCC1	ORPHA:85163
HP:0007256	Abnormal pyramidal sign	4287	ATXN3	ORPHA:276238
HP:0007256	Abnormal pyramidal sign	4287	ATXN3	ORPHA:276244
HP:0007256	Abnormal pyramidal sign	4287	ATXN3	ORPHA:276241
HP:0007256	Abnormal pyramidal sign	9757	KMT2B	ORPHA:589618
HP:0007256	Abnormal pyramidal sign	9150	CTDP1	ORPHA:48431
HP:0007256	Abnormal pyramidal sign	35	ACADS	OMIM:201470
HP:0007256	Abnormal pyramidal sign	57468	SLC12A5	OMIM:616645
HP:0007256	Abnormal pyramidal sign	3425	IDUA	ORPHA:93473
HP:0007256	Abnormal pyramidal sign	3425	IDUA	ORPHA:93476
HP:0007256	Abnormal pyramidal sign	5420	PODXL	ORPHA:391411
HP:0007256	Abnormal pyramidal sign	8867	SYNJ1	ORPHA:391411
HP:0007256	Abnormal pyramidal sign	29925	GMPPB	ORPHA:370959
HP:0007256	Abnormal pyramidal sign	79147	FKRP	ORPHA:370959
HP:0007256	Abnormal pyramidal sign	29954	POMT2	ORPHA:370959
HP:0007256	Abnormal pyramidal sign	84197	POMK	ORPHA:370959
HP:0007256	Abnormal pyramidal sign	55624	POMGNT1	ORPHA:370959
HP:0007256	Abnormal pyramidal sign	10585	POMT1	ORPHA:370959
HP:0007256	Abnormal pyramidal sign	2760	GM2A	ORPHA:309246
HP:0007256	Abnormal pyramidal sign	2760	GM2A	OMIM:272750
HP:0007256	Abnormal pyramidal sign	2670	GFAP	ORPHA:363717
HP:0007256	Abnormal pyramidal sign	6785	ELOVL4	OMIM:133190
HP:0007256	Abnormal pyramidal sign	5264	PHYH	ORPHA:773
HP:0007256	Abnormal pyramidal sign	5191	PEX7	ORPHA:773
HP:0007256	Abnormal pyramidal sign	1807	DPYS	OMIM:222748
HP:0007256	Abnormal pyramidal sign	8139	GAN	OMIM:256850
HP:0007256	Abnormal pyramidal sign	1678	TIMM8A	ORPHA:52368
HP:0007256	Abnormal pyramidal sign	8913	CACNA1G	OMIM:616795
HP:0007256	Abnormal pyramidal sign	80169	CTC1	OMIM:612199
HP:0007256	Abnormal pyramidal sign	9373	PLAA	OMIM:617527
HP:0007256	Abnormal pyramidal sign	4668	NAGA	ORPHA:79279
HP:0007256	Abnormal pyramidal sign	587	BCAT2	OMIM:618850
HP:0007162	Diffuse demyelination of the cerebral white matter	2670	GFAP	OMIM:203450
HP:0007162	Diffuse demyelination of the cerebral white matter	5654	HTRA1	OMIM:600142
HP:0007162	Diffuse demyelination of the cerebral white matter	113179	ADAT3	ORPHA:363528
HP:0007162	Diffuse demyelination of the cerebral white matter	215	ABCD1	ORPHA:139396
HP:0007164	Slowed slurred speech	6687	SPG7	ORPHA:99013
HP:0007164	Slowed slurred speech	9829	DNAJC6	ORPHA:391411
HP:0007164	Slowed slurred speech	5420	PODXL	ORPHA:391411
HP:0007164	Slowed slurred speech	8867	SYNJ1	ORPHA:391411
HP:0007164	Slowed slurred speech	55367	PIDD1	OMIM:619827
HP:0007164	Slowed slurred speech	4137	MAPT	ORPHA:240071
HP:0007165	Periventricular heterotopia	375	ARF1	ORPHA:98892
HP:0007165	Periventricular heterotopia	4131	MAP1B	ORPHA:98892
HP:0007165	Periventricular heterotopia	2316	FLNA	ORPHA:98892
HP:0007165	Periventricular heterotopia	23327	NEDD4L	ORPHA:98892
HP:0007165	Periventricular heterotopia	160418	TMTC3	ORPHA:98892
HP:0007165	Periventricular heterotopia	10564	ARFGEF2	ORPHA:98892
HP:0007165	Periventricular heterotopia	10564	ARFGEF2	OMIM:608097
HP:0007165	Periventricular heterotopia	55780	ERMARD	ORPHA:98892
HP:0007165	Periventricular heterotopia	55780	ERMARD	ORPHA:75857
HP:0007165	Periventricular heterotopia	11253	MAN1B1	ORPHA:397941
HP:0007165	Periventricular heterotopia	23007	PLCH1	OMIM:619895
HP:0007165	Periventricular heterotopia	26005	C2CD3	ORPHA:434179
HP:0007165	Periventricular heterotopia	26005	C2CD3	OMIM:615948
HP:0007165	Periventricular heterotopia	23522	KAT6B	OMIM:606170
HP:0007165	Periventricular heterotopia	29957	SLC25A24	OMIM:612289
HP:0007165	Periventricular heterotopia	4897	NRCAM	OMIM:619833
HP:0007165	Periventricular heterotopia	4329	ALDH6A1	OMIM:614105
HP:0007165	Periventricular heterotopia	25914	RTTN	ORPHA:468631
HP:0007165	Periventricular heterotopia	1000	CDH2	OMIM:618929
HP:0007165	Periventricular heterotopia	9839	ZEB2	ORPHA:261537
HP:0007165	Periventricular heterotopia	9839	ZEB2	ORPHA:261552
HP:0007165	Periventricular heterotopia	1717	DHCR7	OMIM:270400
HP:0007165	Periventricular heterotopia	10733	PLK4	OMIM:616171
HP:0007165	Periventricular heterotopia	5162	PDHB	ORPHA:255138
HP:0007165	Periventricular heterotopia	1436	CSF1R	OMIM:618476
HP:0007165	Periventricular heterotopia	10300	KATNB1	OMIM:616212
HP:0007165	Periventricular heterotopia	22983	MAST1	OMIM:618273
HP:0007165	Periventricular heterotopia	29123	ANKRD11	ORPHA:261250
HP:0007165	Periventricular heterotopia	55790	CSGALNACT1	OMIM:618870
HP:0007165	Periventricular heterotopia	2332	FMR1	OMIM:300624
HP:0007165	Periventricular heterotopia	84148	KAT8	OMIM:618974
HP:0007165	Periventricular heterotopia	8449	DHX16	OMIM:618733
HP:0007165	Periventricular heterotopia	26834	RNU4-2	OMIM:620851
HP:0007165	Periventricular heterotopia	57020	VPS35L	OMIM:619135
HP:0007165	Periventricular heterotopia	65250	CPLANE1	OMIM:277170
HP:0007165	Periventricular heterotopia	23036	ZNF292	OMIM:619188
HP:0007165	Periventricular heterotopia	55656	INTS8	OMIM:618572
HP:0007165	Periventricular heterotopia	57178	ZMIZ1	OMIM:618659
HP:0007165	Periventricular heterotopia	9692	PRORP	OMIM:619737
HP:0007165	Periventricular heterotopia	79633	FAT4	OMIM:615546
HP:0007165	Periventricular heterotopia	10815	CPLX1	ORPHA:352582
HP:0007165	Periventricular heterotopia	57465	TBC1D24	ORPHA:352582
HP:0007165	Periventricular heterotopia	8642	DCHS1	OMIM:601390
HP:0007165	Periventricular heterotopia	22859	ADGRL1	OMIM:620065
HP:0007165	Periventricular heterotopia	57688	ZSWIM6	OMIM:603671
HP:0007165	Periventricular heterotopia	7846	TUBA1A	OMIM:611603
HP:0007165	Periventricular heterotopia	10297	APC2	OMIM:618677
HP:0007166	Paroxysmal dyskinesia	6334	SCN8A	OMIM:617080
HP:0007166	Paroxysmal dyskinesia	6334	SCN8A	ORPHA:31709
HP:0007166	Paroxysmal dyskinesia	111	ADCY5	OMIM:606703
HP:0007166	Paroxysmal dyskinesia	5138	PDE2A	OMIM:619150
HP:0007166	Paroxysmal dyskinesia	5138	PDE2A	ORPHA:31709
HP:0007166	Paroxysmal dyskinesia	51102	MECR	OMIM:617282
HP:0007166	Paroxysmal dyskinesia	25970	SH2B1	ORPHA:261197
HP:0007166	Paroxysmal dyskinesia	3778	KCNMA1	OMIM:618596
HP:0007166	Paroxysmal dyskinesia	3778	KCNMA1	OMIM:609446
HP:0007166	Paroxysmal dyskinesia	3778	KCNMA1	ORPHA:79137
HP:0007166	Paroxysmal dyskinesia	112476	PRRT2	ORPHA:31709
HP:0007166	Paroxysmal dyskinesia	112476	PRRT2	ORPHA:98811
HP:0007166	Paroxysmal dyskinesia	112476	PRRT2	ORPHA:98810
HP:0007166	Paroxysmal dyskinesia	6709	SPTAN1	OMIM:620538
HP:0007166	Paroxysmal dyskinesia	140679	SLC32A1	OMIM:620755
HP:0007166	Paroxysmal dyskinesia	140679	SLC32A1	OMIM:620774
HP:0007166	Paroxysmal dyskinesia	773	CACNA1A	ORPHA:2131
HP:0007166	Paroxysmal dyskinesia	6507	SLC1A3	ORPHA:2131
HP:0007166	Paroxysmal dyskinesia	477	ATP1A2	ORPHA:2131
HP:0007166	Paroxysmal dyskinesia	478	ATP1A3	ORPHA:2131
HP:0007166	Paroxysmal dyskinesia	6513	SLC2A1	ORPHA:98811
HP:0007166	Paroxysmal dyskinesia	6513	SLC2A1	ORPHA:53583
HP:0007166	Paroxysmal dyskinesia	2902	GRIN1	ORPHA:208447
HP:0007166	Paroxysmal dyskinesia	25953	PNKD	ORPHA:98810
HP:0002305	Athetosis	9361	LONP1	OMIM:600373
HP:0002305	Athetosis	4594	MMUT	ORPHA:289916
HP:0002305	Athetosis	4594	MMUT	ORPHA:79312
HP:0002305	Athetosis	26235	FBXL4	OMIM:615471
HP:0002305	Athetosis	53371	NUP54	OMIM:620427
HP:0002305	Athetosis	53371	NUP54	ORPHA:225154
HP:0002305	Athetosis	6513	SLC2A1	OMIM:612126
HP:0002305	Athetosis	6513	SLC2A1	OMIM:601042
HP:0002305	Athetosis	6513	SLC2A1	ORPHA:98811
HP:0002305	Athetosis	6513	SLC2A1	OMIM:606777
HP:0002305	Athetosis	6513	SLC2A1	ORPHA:53583
HP:0002305	Athetosis	6513	SLC2A1	ORPHA:71277
HP:0002305	Athetosis	478	ATP1A3	OMIM:614820
HP:0002305	Athetosis	478	ATP1A3	ORPHA:2131
HP:0002305	Athetosis	6323	SCN1A	OMIM:619317
HP:0002305	Athetosis	1119	CHKA	OMIM:620023
HP:0002305	Athetosis	170302	ARX	OMIM:308350
HP:0002305	Athetosis	170302	ARX	ORPHA:1934
HP:0002305	Athetosis	81570	CLPB	ORPHA:445038
HP:0002305	Athetosis	81570	CLPB	OMIM:616271
HP:0002305	Athetosis	57165	GJC2	OMIM:608804
HP:0002305	Athetosis	1822	ATN1	OMIM:125370
HP:0002305	Athetosis	1822	ATN1	ORPHA:101
HP:0002305	Athetosis	65993	MRPS34	OMIM:617664
HP:0002305	Athetosis	80207	OPA3	ORPHA:67047
HP:0002305	Athetosis	125988	MICOS13	ORPHA:67047
HP:0002305	Athetosis	5160	PDHA1	OMIM:312170
HP:0002305	Athetosis	472	ATM	OMIM:208900
HP:0002305	Athetosis	79133	NDUFAF5	OMIM:618238
HP:0002305	Athetosis	5610	EIF2AK2	OMIM:618877
HP:0002305	Athetosis	84520	GON7	OMIM:619603
HP:0002305	Athetosis	8869	ST3GAL5	OMIM:609056
HP:0002305	Athetosis	87178	PNPT1	ORPHA:319514
HP:0002305	Athetosis	87178	PNPT1	OMIM:614932
HP:0002305	Athetosis	4694	NDUFA1	OMIM:301020
HP:0002305	Athetosis	55250	ELP2	OMIM:617270
HP:0002305	Athetosis	4204	MECP2	OMIM:300055
HP:0002305	Athetosis	4704	NDUFA9	OMIM:618247
HP:0002305	Athetosis	116228	COX20	OMIM:619054
HP:0002305	Athetosis	23732	FRRS1L	OMIM:616981
HP:0002305	Athetosis	64207	IRF2BPL	OMIM:618088
HP:0002305	Athetosis	51079	NDUFA13	OMIM:618249
HP:0002305	Athetosis	7920	ABHD16A	OMIM:619735
HP:0002305	Athetosis	114034	TOE1	OMIM:614969
HP:0002305	Athetosis	2074	ERCC6	OMIM:278800
HP:0002305	Athetosis	5428	POLG	ORPHA:726
HP:0002305	Athetosis	7080	NKX2-1	ORPHA:209905
HP:0002305	Athetosis	7080	NKX2-1	OMIM:610978
HP:0002305	Athetosis	4361	MRE11	OMIM:604391
HP:0002305	Athetosis	6821	SUOX	OMIM:272300
HP:0002305	Athetosis	5805	PTS	ORPHA:13
HP:0002305	Athetosis	5805	PTS	OMIM:261640
HP:0002305	Athetosis	2898	GRIK2	OMIM:619580
HP:0002305	Athetosis	10715	CERS1	OMIM:616230
HP:0002305	Athetosis	774	CACNA1B	OMIM:618497
HP:0002305	Athetosis	8802	SUCLG1	ORPHA:17
HP:0002305	Athetosis	54664	TMEM106B	OMIM:617964
HP:0002305	Athetosis	284439	SLC25A42	OMIM:618416
HP:0002305	Athetosis	10382	TUBB4A	OMIM:612438
HP:0002305	Athetosis	26834	RNU4-2	OMIM:620851
HP:0002305	Athetosis	6697	SPR	OMIM:612716
HP:0002305	Athetosis	25953	PNKD	ORPHA:98810
HP:0002305	Athetosis	3028	HSD17B10	ORPHA:391428
HP:0002305	Athetosis	3028	HSD17B10	OMIM:300438
HP:0002305	Athetosis	2512	FTL	OMIM:606159
HP:0002305	Athetosis	10367	MICU1	OMIM:615673
HP:0002305	Athetosis	6812	STXBP1	OMIM:612164
HP:0002305	Athetosis	23533	PIK3R5	ORPHA:64753
HP:0002305	Athetosis	23064	SETX	ORPHA:64753
HP:0002305	Athetosis	92609	TIMM50	OMIM:617698
HP:0002305	Athetosis	2643	GCH1	OMIM:233910
HP:0002305	Athetosis	6507	SLC1A3	ORPHA:2131
HP:0002305	Athetosis	477	ATP1A2	ORPHA:2131
HP:0002305	Athetosis	477	ATP1A2	OMIM:104290
HP:0002305	Athetosis	80025	PANK2	OMIM:234200
HP:0002305	Athetosis	7507	XPA	OMIM:278700
HP:0002305	Athetosis	111	ADCY5	OMIM:606703
HP:0002305	Athetosis	1737	DLAT	OMIM:245348
HP:0002305	Athetosis	3251	HPRT1	OMIM:300322
HP:0002305	Athetosis	60558	GUF1	OMIM:617065
HP:0002305	Athetosis	6857	SYT1	ORPHA:522077
HP:0002305	Athetosis	6857	SYT1	OMIM:618218
HP:0002305	Athetosis	2566	GABRG2	OMIM:618396
HP:0002305	Athetosis	283989	TSEN54	ORPHA:2524
HP:0002305	Athetosis	116461	TSEN15	ORPHA:2524
HP:0002305	Athetosis	79042	TSEN34	ORPHA:2524
HP:0002305	Athetosis	80746	TSEN2	ORPHA:2524
HP:0002305	Athetosis	51091	SEPSECS	ORPHA:2524
HP:0002305	Athetosis	9213	XPR1	OMIM:616413
HP:0002305	Athetosis	54676	GTPBP2	OMIM:617988
HP:0002305	Athetosis	4508	MT-ATP6	ORPHA:225154
HP:0002305	Athetosis	23636	NUP62	ORPHA:225154
HP:0002305	Athetosis	23636	NUP62	OMIM:271930
HP:0002305	Athetosis	103	ADAR	ORPHA:225154
HP:0002305	Athetosis	7143	TNR	OMIM:619653
HP:0002305	Athetosis	10463	SLC30A9	OMIM:617595
HP:0002305	Athetosis	5455	POU3F3	OMIM:618604
HP:0002305	Athetosis	133686	NADK2	ORPHA:431361
HP:0002305	Athetosis	133686	NADK2	OMIM:616034
HP:0002305	Athetosis	23219	FBXO28	OMIM:619777
HP:0002305	Athetosis	9439	MED23	OMIM:614249
HP:0002305	Athetosis	256472	TMEM151A	OMIM:620245
HP:0002305	Athetosis	57731	SPTBN4	OMIM:617519
HP:0002305	Athetosis	2778	GNAS	ORPHA:79443
HP:0002305	Athetosis	80067	DCAF17	OMIM:241080
HP:0002305	Athetosis	25970	SH2B1	ORPHA:261197
HP:0002305	Athetosis	5860	QDPR	OMIM:261630
HP:0002305	Athetosis	10533	ATG7	OMIM:619422
HP:0002305	Athetosis	3658	IREB2	OMIM:618451
HP:0002305	Athetosis	3329	HSPD1	OMIM:612233
HP:0002305	Athetosis	284111	SLC13A5	OMIM:615905
HP:0002305	Athetosis	8905	AP1S2	OMIM:304340
HP:0002305	Athetosis	6792	CDKL5	ORPHA:1934
HP:0002305	Athetosis	9091	PIGQ	ORPHA:1934
HP:0002305	Athetosis	140679	SLC32A1	ORPHA:1934
HP:0002305	Athetosis	81603	TRIM8	ORPHA:1934
HP:0002305	Athetosis	2902	GRIN1	ORPHA:1934
HP:0002305	Athetosis	79751	SLC25A22	ORPHA:1934
HP:0002305	Athetosis	150094	SIK1	ORPHA:1934
HP:0002305	Athetosis	8573	CASK	ORPHA:1934
HP:0002305	Athetosis	23312	DMXL2	ORPHA:1934
HP:0002305	Athetosis	2917	GRM7	ORPHA:1934
HP:0002305	Athetosis	11284	PNKP	ORPHA:1934
HP:0002305	Athetosis	6326	SCN2A	ORPHA:1934
HP:0002305	Athetosis	51227	PIGP	ORPHA:1934
HP:0002305	Athetosis	6324	SCN1B	ORPHA:1934
HP:0002305	Athetosis	4761	NEUROD2	ORPHA:1934
HP:0002305	Athetosis	2068	ERCC2	OMIM:278730
HP:0002305	Athetosis	2639	GCDH	ORPHA:25
HP:0002305	Athetosis	5091	PC	OMIM:266150
HP:0002305	Athetosis	79876	UBA5	OMIM:617132
HP:0002305	Athetosis	55768	NGLY1	OMIM:615273
HP:0002305	Athetosis	55768	NGLY1	ORPHA:404454
HP:0002305	Athetosis	2775	GNAO1	OMIM:617493
HP:0002305	Athetosis	2775	GNAO1	OMIM:615473
HP:0002305	Athetosis	56896	DPYSL5	OMIM:619435
HP:0002305	Athetosis	776	CACNA1D	OMIM:615474
HP:0002305	Athetosis	776	CACNA1D	ORPHA:369929
HP:0002305	Athetosis	23316	CUX2	OMIM:618141
HP:0002305	Athetosis	51728	POLR3K	OMIM:619310
HP:0002305	Athetosis	27089	UQCRQ	OMIM:615159
HP:0002305	Athetosis	3736	KCNA1	ORPHA:98809
HP:0002305	Athetosis	112476	PRRT2	ORPHA:98809
HP:0002305	Athetosis	112476	PRRT2	ORPHA:31709
HP:0002305	Athetosis	2495	FTH1	OMIM:620669
HP:0002305	Athetosis	10059	DNM1L	OMIM:614388
HP:0002305	Athetosis	60684	TRAPPC11	OMIM:615356
HP:0002305	Athetosis	2290	FOXG1	OMIM:613454
HP:0002305	Athetosis	5828	PEX2	OMIM:614866
HP:0002305	Athetosis	80036	TRPM3	OMIM:620224
HP:0002305	Athetosis	5354	PLP1	ORPHA:280219
HP:0002305	Athetosis	1528	CYB5A	ORPHA:621
HP:0002305	Athetosis	1727	CYB5R3	ORPHA:621
HP:0002305	Athetosis	6609	SMPD1	OMIM:257200
HP:0002305	Athetosis	2593	GAMT	ORPHA:382
HP:0002305	Athetosis	23556	PIGN	ORPHA:280633
HP:0002305	Athetosis	26503	SLC17A5	OMIM:604369
HP:0002305	Athetosis	6535	SLC6A8	ORPHA:52503
HP:0002305	Athetosis	5138	PDE2A	ORPHA:31709
HP:0002305	Athetosis	6334	SCN8A	ORPHA:31709
HP:0002305	Athetosis	6567	SLC16A2	OMIM:300523
HP:0002305	Athetosis	5155	PDGFB	OMIM:615483
HP:0002305	Athetosis	5155	PDGFB	OMIM:213600
HP:0002305	Athetosis	773	CACNA1A	OMIM:617106
HP:0002305	Athetosis	10730	YME1L1	OMIM:617302
HP:0002305	Athetosis	50	ACO2	OMIM:614559
HP:0002305	Athetosis	5831	PYCR1	OMIM:614438
HP:0002305	Athetosis	55164	SHQ1	OMIM:619922
HP:0002305	Athetosis	1644	DDC	OMIM:608643
HP:0002305	Athetosis	5832	ALDH18A1	OMIM:219150
HP:0002305	Athetosis	54820	NDE1	OMIM:605013
HP:0002305	Athetosis	56652	TWNK	OMIM:271245
HP:0002305	Athetosis	55650	PIGV	OMIM:239300
HP:0002305	Athetosis	51324	SPG21	OMIM:248900
HP:0002305	Athetosis	3798	KIF5A	OMIM:617235
HP:0002305	Athetosis	29978	UBQLN2	OMIM:300857
HP:0002305	Athetosis	55572	FOXRED1	OMIM:618241
HP:0002305	Athetosis	10352	WARS2	OMIM:617710
HP:0002305	Athetosis	10352	WARS2	ORPHA:572798
HP:0002305	Athetosis	2058	EPRS1	OMIM:617951
HP:0002305	Athetosis	3054	HCFC1	OMIM:309541
HP:0002305	Athetosis	6575	SLC20A2	OMIM:213600
HP:0002305	Athetosis	5159	PDGFRB	OMIM:213600
HP:0002305	Athetosis	549	AUH	OMIM:250950
HP:0002305	Athetosis	51102	MECR	OMIM:617282
HP:0002305	Athetosis	8803	SUCLA2	OMIM:612073
HP:0002305	Athetosis	6833	ABCC8	OMIM:618857
HP:0002305	Athetosis	8635	RNASET2	OMIM:612951
HP:0002305	Athetosis	113235	SLC46A1	OMIM:229050
HP:0002305	Athetosis	26227	PHGDH	ORPHA:79351
HP:0002305	Athetosis	8241	RBM10	OMIM:311900
HP:0002305	Athetosis	23230	VPS13A	OMIM:200150
HP:0006955	Olivopontocerebellar hypoplasia	283989	TSEN54	ORPHA:166063
HP:0006955	Olivopontocerebellar hypoplasia	283989	TSEN54	OMIM:610204
HP:0006955	Olivopontocerebellar hypoplasia	29925	GMPPB	ORPHA:370959
HP:0006955	Olivopontocerebellar hypoplasia	79147	FKRP	ORPHA:370959
HP:0006955	Olivopontocerebellar hypoplasia	29954	POMT2	ORPHA:370959
HP:0006955	Olivopontocerebellar hypoplasia	84197	POMK	ORPHA:370959
HP:0006955	Olivopontocerebellar hypoplasia	55624	POMGNT1	ORPHA:370959
HP:0006955	Olivopontocerebellar hypoplasia	10585	POMT1	ORPHA:370959
HP:0006955	Olivopontocerebellar hypoplasia	114034	TOE1	ORPHA:284339
HP:0006955	Olivopontocerebellar hypoplasia	9562	MINPP1	ORPHA:284339
HP:0006955	Olivopontocerebellar hypoplasia	5518	PPP2R1A	ORPHA:457284
HP:0006955	Olivopontocerebellar hypoplasia	6311	ATXN2	ORPHA:98756
HP:0006955	Olivopontocerebellar hypoplasia	25914	RTTN	ORPHA:468631
HP:0006955	Olivopontocerebellar hypoplasia	5373	PMM2	OMIM:212065
HP:0003477	Peripheral axonal neuropathy	9131	AIFM1	ORPHA:238329
HP:0003477	Peripheral axonal neuropathy	9131	AIFM1	OMIM:300614
HP:0003477	Peripheral axonal neuropathy	9131	AIFM1	OMIM:310490
HP:0003477	Peripheral axonal neuropathy	23646	PLD3	OMIM:617770
HP:0003477	Peripheral axonal neuropathy	3094	HINT1	ORPHA:324442
HP:0003477	Peripheral axonal neuropathy	3094	HINT1	OMIM:137200
HP:0003477	Peripheral axonal neuropathy	25923	ATL3	OMIM:615632
HP:0003477	Peripheral axonal neuropathy	391356	PTRHD1	OMIM:620747
HP:0003477	Peripheral axonal neuropathy	4744	NEFH	OMIM:616924
HP:0003477	Peripheral axonal neuropathy	4762	NEUROG1	OMIM:620469
HP:0003477	Peripheral axonal neuropathy	2259	FGF14	ORPHA:98764
HP:0003477	Peripheral axonal neuropathy	25894	PLEKHG4	ORPHA:98765
HP:0003477	Peripheral axonal neuropathy	57165	GJC2	OMIM:608804
HP:0003477	Peripheral axonal neuropathy	7084	TK2	ORPHA:254886
HP:0003477	Peripheral axonal neuropathy	3074	HEXB	ORPHA:309169
HP:0003477	Peripheral axonal neuropathy	6472	SHMT2	OMIM:619121
HP:0003477	Peripheral axonal neuropathy	63895	PIEZO2	OMIM:617146
HP:0003477	Peripheral axonal neuropathy	219285	SAMD9L	OMIM:619806
HP:0003477	Peripheral axonal neuropathy	3178	HNRNPA1	ORPHA:52430
HP:0003477	Peripheral axonal neuropathy	3181	HNRNPA2B1	ORPHA:52430
HP:0003477	Peripheral axonal neuropathy	51	ACOX1	OMIM:618960
HP:0003477	Peripheral axonal neuropathy	116228	COX20	OMIM:619054
HP:0003477	Peripheral axonal neuropathy	7518	XRCC4	OMIM:616541
HP:0003477	Peripheral axonal neuropathy	1509	CTSD	OMIM:610127
HP:0003477	Peripheral axonal neuropathy	823	CAPN1	OMIM:616907
HP:0003477	Peripheral axonal neuropathy	8139	GAN	OMIM:256850
HP:0003477	Peripheral axonal neuropathy	8449	DHX16	OMIM:618733
HP:0003477	Peripheral axonal neuropathy	144165	PRICKLE1	OMIM:612437
HP:0003477	Peripheral axonal neuropathy	4000	LMNA	ORPHA:98856
HP:0003477	Peripheral axonal neuropathy	2395	FXN	ORPHA:95
HP:0003477	Peripheral axonal neuropathy	4976	OPA1	OMIM:210000
HP:0003477	Peripheral axonal neuropathy	291	SLC25A4	ORPHA:254892
HP:0003477	Peripheral axonal neuropathy	5428	POLG	ORPHA:254892
HP:0003477	Peripheral axonal neuropathy	5428	POLG	ORPHA:298
HP:0003477	Peripheral axonal neuropathy	5428	POLG	OMIM:607459
HP:0003477	Peripheral axonal neuropathy	56652	TWNK	ORPHA:254892
HP:0003477	Peripheral axonal neuropathy	56652	TWNK	OMIM:607459
HP:0003477	Peripheral axonal neuropathy	11232	POLG2	ORPHA:254892
HP:0003477	Peripheral axonal neuropathy	11232	POLG2	OMIM:619425
HP:0003477	Peripheral axonal neuropathy	50484	RRM2B	ORPHA:254892
HP:0003477	Peripheral axonal neuropathy	50484	RRM2B	ORPHA:298
HP:0003477	Peripheral axonal neuropathy	9488	PIGB	OMIM:618580
HP:0003477	Peripheral axonal neuropathy	4141	MARS1	OMIM:616280
HP:0003477	Peripheral axonal neuropathy	4558	MT-TF	ORPHA:550
HP:0003477	Peripheral axonal neuropathy	4572	MT-TQ	ORPHA:550
HP:0003477	Peripheral axonal neuropathy	4512	MT-CO1	ORPHA:550
HP:0003477	Peripheral axonal neuropathy	4513	MT-CO2	ORPHA:550
HP:0003477	Peripheral axonal neuropathy	4514	MT-CO3	ORPHA:550
HP:0003477	Peripheral axonal neuropathy	4578	MT-TW	ORPHA:550
HP:0003477	Peripheral axonal neuropathy	4540	MT-ND5	ORPHA:550
HP:0003477	Peripheral axonal neuropathy	4541	MT-ND6	ORPHA:550
HP:0003477	Peripheral axonal neuropathy	4535	MT-ND1	ORPHA:550
HP:0003477	Peripheral axonal neuropathy	4538	MT-ND4	ORPHA:550
HP:0003477	Peripheral axonal neuropathy	4567	MT-TL1	ORPHA:550
HP:0003477	Peripheral axonal neuropathy	4574	MT-TS1	ORPHA:550
HP:0003477	Peripheral axonal neuropathy	4575	MT-TS2	ORPHA:550
HP:0003477	Peripheral axonal neuropathy	4564	MT-TH	ORPHA:550
HP:0003477	Peripheral axonal neuropathy	23769	FLRT1	ORPHA:320406
HP:0003477	Peripheral axonal neuropathy	64837	KLC2	ORPHA:320406
HP:0003477	Peripheral axonal neuropathy	91574	MTRFR	ORPHA:254930
HP:0003477	Peripheral axonal neuropathy	91574	MTRFR	OMIM:615035
HP:0003477	Peripheral axonal neuropathy	1161	ERCC8	ORPHA:90324
HP:0003477	Peripheral axonal neuropathy	2074	ERCC6	ORPHA:90324
HP:0003477	Peripheral axonal neuropathy	80821	DDHD1	OMIM:609340
HP:0003477	Peripheral axonal neuropathy	50717	DCAF8	OMIM:610100
HP:0003477	Peripheral axonal neuropathy	57704	GBA2	ORPHA:352641
HP:0003477	Peripheral axonal neuropathy	57704	GBA2	ORPHA:320391
HP:0003477	Peripheral axonal neuropathy	9927	MFN2	OMIM:151800
HP:0003477	Peripheral axonal neuropathy	9927	MFN2	OMIM:617087
HP:0003477	Peripheral axonal neuropathy	673	BRAF	OMIM:115150
HP:0003477	Peripheral axonal neuropathy	19	ABCA1	OMIM:205400
HP:0003477	Peripheral axonal neuropathy	19	ABCA1	ORPHA:31150
HP:0003477	Peripheral axonal neuropathy	4508	MT-ATP6	ORPHA:320360
HP:0003477	Peripheral axonal neuropathy	4747	NEFL	ORPHA:99939
HP:0003477	Peripheral axonal neuropathy	5361	PLXNA1	OMIM:619955
HP:0003477	Peripheral axonal neuropathy	23345	SYNE1	OMIM:610743
HP:0003477	Peripheral axonal neuropathy	10516	FBLN5	OMIM:608895
HP:0003477	Peripheral axonal neuropathy	274	BIN1	ORPHA:169189
HP:0003477	Peripheral axonal neuropathy	64419	MTMR14	ORPHA:169189
HP:0003477	Peripheral axonal neuropathy	4618	MYF6	ORPHA:169189
HP:0003477	Peripheral axonal neuropathy	1785	DNM2	ORPHA:169189
HP:0003477	Peripheral axonal neuropathy	6261	RYR1	ORPHA:169189
HP:0003477	Peripheral axonal neuropathy	59341	TRPV4	OMIM:156530
HP:0003477	Peripheral axonal neuropathy	200205	IBA57	ORPHA:468661
HP:0003477	Peripheral axonal neuropathy	200205	IBA57	OMIM:616451
HP:0003477	Peripheral axonal neuropathy	55187	VPS13D	OMIM:607317
HP:0003477	Peripheral axonal neuropathy	81790	RNF170	OMIM:619686
HP:0003477	Peripheral axonal neuropathy	478	ATP1A3	OMIM:601338
HP:0003477	Peripheral axonal neuropathy	55182	RNF220	OMIM:619688
HP:0003477	Peripheral axonal neuropathy	6905	TBCE	ORPHA:496756
HP:0003477	Peripheral axonal neuropathy	6905	TBCE	OMIM:617207
HP:0003477	Peripheral axonal neuropathy	547	KIF1A	OMIM:610357
HP:0003477	Peripheral axonal neuropathy	547	KIF1A	OMIM:614255
HP:0003477	Peripheral axonal neuropathy	10908	PNPLA6	OMIM:275400
HP:0003477	Peripheral axonal neuropathy	5660	PSAP	OMIM:611722
HP:0003477	Peripheral axonal neuropathy	271	AMPD2	OMIM:615809
HP:0003477	Peripheral axonal neuropathy	3767	KCNJ11	ORPHA:99885
HP:0003477	Peripheral axonal neuropathy	6774	STAT3	ORPHA:99885
HP:0003477	Peripheral axonal neuropathy	2645	GCK	ORPHA:99885
HP:0003477	Peripheral axonal neuropathy	3651	PDX1	ORPHA:99885
HP:0003477	Peripheral axonal neuropathy	6833	ABCC8	ORPHA:99885
HP:0003477	Peripheral axonal neuropathy	3630	INS	ORPHA:99885
HP:0003477	Peripheral axonal neuropathy	1890	TYMP	ORPHA:298
HP:0003477	Peripheral axonal neuropathy	3980	LIG3	ORPHA:298
HP:0003477	Peripheral axonal neuropathy	8888	MCM3AP	OMIM:618124
HP:0003477	Peripheral axonal neuropathy	23250	ATP11A	OMIM:619851
HP:0003477	Peripheral axonal neuropathy	23321	TRIM2	OMIM:615490
HP:0003477	Peripheral axonal neuropathy	4358	MPV17	OMIM:618400
HP:0003477	Peripheral axonal neuropathy	4358	MPV17	OMIM:256810
HP:0003477	Peripheral axonal neuropathy	10381	TUBB3	OMIM:600638
HP:0003477	Peripheral axonal neuropathy	215	ABCD1	ORPHA:139396
HP:0003477	Peripheral axonal neuropathy	79628	SH3TC2	OMIM:613353
HP:0003477	Peripheral axonal neuropathy	1778	DYNC1H1	OMIM:614563
HP:0003477	Peripheral axonal neuropathy	55157	DARS2	ORPHA:137898
HP:0003477	Peripheral axonal neuropathy	55157	DARS2	OMIM:611105
HP:0003477	Peripheral axonal neuropathy	91137	SLC25A46	OMIM:616505
HP:0003477	Peripheral axonal neuropathy	91137	SLC25A46	ORPHA:2254
HP:0003477	Peripheral axonal neuropathy	54463	RETREG1	OMIM:613115
HP:0003477	Peripheral axonal neuropathy	51008	ASCC1	OMIM:616867
HP:0003477	Peripheral axonal neuropathy	9325	TRIP4	OMIM:616866
HP:0003477	Peripheral axonal neuropathy	8398	PLA2G6	ORPHA:35069
HP:0003477	Peripheral axonal neuropathy	5351	PLOD1	ORPHA:1900
HP:0003477	Peripheral axonal neuropathy	10939	AFG3L2	ORPHA:313772
HP:0003477	Peripheral axonal neuropathy	7276	TTR	OMIM:105210
HP:0003477	Peripheral axonal neuropathy	2632	GBE1	OMIM:263570
HP:0003477	Peripheral axonal neuropathy	10367	MICU1	ORPHA:401768
HP:0003477	Peripheral axonal neuropathy	10367	MICU1	OMIM:615673
HP:0003477	Peripheral axonal neuropathy	23400	ATP13A2	ORPHA:513436
HP:0003477	Peripheral axonal neuropathy	23400	ATP13A2	OMIM:617225
HP:0003477	Peripheral axonal neuropathy	2064	ERBB2	OMIM:619465
HP:0003477	Peripheral axonal neuropathy	80208	SPG11	ORPHA:2822
HP:0003477	Peripheral axonal neuropathy	80208	SPG11	OMIM:616668
HP:0003477	Peripheral axonal neuropathy	55775	TDP1	OMIM:607250
HP:0003477	Peripheral axonal neuropathy	23230	VPS13A	ORPHA:2388
HP:0003477	Peripheral axonal neuropathy	23230	VPS13A	OMIM:200150
HP:0003477	Peripheral axonal neuropathy	55210	ATAD3A	OMIM:618810
HP:0003477	Peripheral axonal neuropathy	55210	ATAD3A	ORPHA:496790
HP:0003477	Peripheral axonal neuropathy	55210	ATAD3A	OMIM:617183
HP:0003477	Peripheral axonal neuropathy	2783	GNB2	OMIM:619503
HP:0003477	Peripheral axonal neuropathy	4359	MPZ	ORPHA:101082
HP:0003477	Peripheral axonal neuropathy	3475	IFRD1	ORPHA:98771
HP:0003477	Peripheral axonal neuropathy	3735	KARS1	OMIM:619196
HP:0003477	Peripheral axonal neuropathy	9997	SCO2	OMIM:604377
HP:0003477	Peripheral axonal neuropathy	113612	CYP2U1	OMIM:615030
HP:0003477	Peripheral axonal neuropathy	113612	CYP2U1	ORPHA:320411
HP:0003477	Peripheral axonal neuropathy	65260	COA7	OMIM:618387
HP:0003477	Peripheral axonal neuropathy	7415	VCP	ORPHA:435387
HP:0003477	Peripheral axonal neuropathy	3845	KRAS	OMIM:615278
HP:0003477	Peripheral axonal neuropathy	1660	DHX9	OMIM:620988
HP:0003477	Peripheral axonal neuropathy	11340	EXOSC8	ORPHA:2254
HP:0003477	Peripheral axonal neuropathy	5393	EXOSC9	ORPHA:2254
HP:0003477	Peripheral axonal neuropathy	23287	AGTPBP1	ORPHA:2254
HP:0003477	Peripheral axonal neuropathy	51010	EXOSC3	ORPHA:2254
HP:0003477	Peripheral axonal neuropathy	7443	VRK1	ORPHA:2254
HP:0003477	Peripheral axonal neuropathy	4287	ATXN3	ORPHA:276244
HP:0003477	Peripheral axonal neuropathy	60481	ELOVL5	OMIM:615957
HP:0003477	Peripheral axonal neuropathy	7345	UCHL1	OMIM:620221
HP:0003477	Peripheral axonal neuropathy	23503	ZFYVE26	OMIM:270700
HP:0003477	Peripheral axonal neuropathy	23503	ZFYVE26	ORPHA:100996
HP:0003477	Peripheral axonal neuropathy	4311	MME	ORPHA:497764
HP:0003477	Peripheral axonal neuropathy	3766	KCNJ10	ORPHA:199343
HP:0003477	Peripheral axonal neuropathy	55958	KLHL9	ORPHA:399081
HP:0003477	Peripheral axonal neuropathy	23095	KIF1B	OMIM:118210
HP:0003477	Peripheral axonal neuropathy	4076	CAPRIN1	OMIM:620636
HP:0003477	Peripheral axonal neuropathy	6785	ELOVL4	OMIM:133190
HP:0003477	Peripheral axonal neuropathy	51062	ATL1	OMIM:613708
HP:0003477	Peripheral axonal neuropathy	80347	COASY	ORPHA:397725
HP:0003477	Peripheral axonal neuropathy	22880	MORC2	OMIM:619090
HP:0003477	Peripheral axonal neuropathy	1716	DGUOK	OMIM:617070
HP:0003477	Peripheral axonal neuropathy	9147	NEMF	OMIM:619099
HP:0003477	Peripheral axonal neuropathy	6709	SPTAN1	OMIM:620528
HP:0003477	Peripheral axonal neuropathy	6709	SPTAN1	OMIM:620538
HP:0003477	Peripheral axonal neuropathy	2733	GLE1	OMIM:611890
HP:0003477	Peripheral axonal neuropathy	60386	SLC25A19	OMIM:613710
HP:0003477	Peripheral axonal neuropathy	23533	PIK3R5	OMIM:615217
HP:0003477	Peripheral axonal neuropathy	57731	SPTBN4	OMIM:617519
HP:0003477	Peripheral axonal neuropathy	5832	ALDH18A1	ORPHA:447757
HP:0003477	Peripheral axonal neuropathy	4556	MT-TE	ORPHA:2596
HP:0003477	Peripheral axonal neuropathy	710	SERPING1	OMIM:106100
HP:0003477	Peripheral axonal neuropathy	26353	HSPB8	OMIM:608673
HP:0003477	Peripheral axonal neuropathy	4668	NAGA	OMIM:609242
HP:0003477	Peripheral axonal neuropathy	3098	HK1	ORPHA:99953
HP:0003477	Peripheral axonal neuropathy	5631	PRPS1	OMIM:300661
HP:0003477	Peripheral axonal neuropathy	3798	KIF5A	ORPHA:100991
HP:0003477	Peripheral axonal neuropathy	27072	VPS41	OMIM:619389
HP:0003477	Peripheral axonal neuropathy	7466	WFS1	ORPHA:411590
HP:0003477	Peripheral axonal neuropathy	22948	CCT5	OMIM:256840
HP:0003477	Peripheral axonal neuropathy	16	AARS1	OMIM:613287
HP:0003477	Peripheral axonal neuropathy	23064	SETX	OMIM:606002
HP:0003477	Peripheral axonal neuropathy	3315	HSPB1	ORPHA:99940
HP:0003477	Peripheral axonal neuropathy	65055	REEP1	OMIM:620011
HP:0003477	Peripheral axonal neuropathy	9990	SLC12A6	OMIM:218000
HP:0003477	Peripheral axonal neuropathy	6904	TBCD	ORPHA:496641
HP:0003477	Peripheral axonal neuropathy	64856	VWA1	OMIM:619216
HP:0003477	Peripheral axonal neuropathy	3839	KPNA3	OMIM:620106
HP:0003477	Peripheral axonal neuropathy	29926	GMPPA	ORPHA:869
HP:0003477	Peripheral axonal neuropathy	60684	TRAPPC11	ORPHA:869
HP:0003477	Peripheral axonal neuropathy	8086	AAAS	ORPHA:869
HP:0003477	Peripheral axonal neuropathy	8086	AAAS	OMIM:231550
HP:0003477	Peripheral axonal neuropathy	57599	WDR48	ORPHA:401800
HP:0003477	Peripheral axonal neuropathy	6687	SPG7	ORPHA:35689
HP:0003477	Peripheral axonal neuropathy	7504	XK	OMIM:300842
HP:0003477	Peripheral axonal neuropathy	83636	C19orf12	OMIM:614298
HP:0003477	Peripheral axonal neuropathy	51305	KCNK9	ORPHA:166108
HP:0003477	Peripheral axonal neuropathy	7453	WARS1	OMIM:617721
HP:0003477	Peripheral axonal neuropathy	5192	PEX10	OMIM:614871
HP:0003477	Peripheral axonal neuropathy	5192	PEX10	ORPHA:247815
HP:0003477	Peripheral axonal neuropathy	3035	HARS1	ORPHA:488333
HP:0003477	Peripheral axonal neuropathy	26834	RNU4-2	OMIM:620851
HP:0003477	Peripheral axonal neuropathy	3145	HMBS	ORPHA:79276
HP:0003477	Peripheral axonal neuropathy	10558	SPTLC1	ORPHA:36386
HP:0003477	Peripheral axonal neuropathy	9517	SPTLC2	ORPHA:36386
HP:0003477	Peripheral axonal neuropathy	84342	COG8	ORPHA:95428
HP:0003477	Peripheral axonal neuropathy	84342	COG8	OMIM:611182
HP:0003477	Peripheral axonal neuropathy	54332	GDAP1	ORPHA:99948
HP:0003477	Peripheral axonal neuropathy	54332	GDAP1	ORPHA:101097
HP:0030002	Nocturnal lagophthalmos	4000	LMNA	ORPHA:740
HP:0030002	Nocturnal lagophthalmos	10269	ZMPSTE24	ORPHA:740
HP:0030002	Nocturnal lagophthalmos	22947	DUX4L1	ORPHA:269
HP:0030002	Nocturnal lagophthalmos	1789	DNMT3B	ORPHA:269
HP:0030002	Nocturnal lagophthalmos	2483	FRG1	ORPHA:269
HP:0030002	Nocturnal lagophthalmos	23347	SMCHD1	ORPHA:269
HP:0030002	Nocturnal lagophthalmos	100288687	DUX4	ORPHA:269
HP:0030001	Lagophthalmos	1748	DLX4	OMIM:616788
HP:0030001	Lagophthalmos	57479	PRR12	OMIM:619539
HP:0030001	Lagophthalmos	8085	KMT2D	ORPHA:2322
HP:0030001	Lagophthalmos	7403	KDM6A	ORPHA:2322
HP:0030001	Lagophthalmos	3211	HOXB1	OMIM:614744
HP:0030001	Lagophthalmos	999	CDH1	OMIM:119580
HP:0030001	Lagophthalmos	1500	CTNND1	OMIM:617681
HP:0030001	Lagophthalmos	3190	HNRNPK	OMIM:616580
HP:0030001	Lagophthalmos	55768	NGLY1	ORPHA:404454
HP:0030001	Lagophthalmos	389827	MYMK	OMIM:254940
HP:0030001	Lagophthalmos	11128	POLR3A	ORPHA:3455
HP:0030001	Lagophthalmos	9427	ECEL1	OMIM:615065
HP:0030001	Lagophthalmos	4000	LMNA	ORPHA:740
HP:0030001	Lagophthalmos	10269	ZMPSTE24	ORPHA:740
HP:0030001	Lagophthalmos	22947	DUX4L1	ORPHA:269
HP:0030001	Lagophthalmos	1789	DNMT3B	ORPHA:269
HP:0030001	Lagophthalmos	2483	FRG1	ORPHA:269
HP:0030001	Lagophthalmos	23347	SMCHD1	ORPHA:269
HP:0030001	Lagophthalmos	100288687	DUX4	ORPHA:269
HP:0030001	Lagophthalmos	54101	RIPK4	OMIM:263650
HP:0030009	Cervical insufficiency	1281	COL3A1	OMIM:130050
HP:0030009	Cervical insufficiency	1277	COL1A1	ORPHA:287
HP:0030009	Cervical insufficiency	1289	COL5A1	ORPHA:287
HP:0030009	Cervical insufficiency	1290	COL5A2	ORPHA:287
HP:0003202	Skeletal muscle atrophy	1374	CPT1A	ORPHA:156
HP:0003202	Skeletal muscle atrophy	1497	CTNS	OMIM:219800
HP:0003202	Skeletal muscle atrophy	1145	CHRNE	OMIM:608931
HP:0003202	Skeletal muscle atrophy	1145	CHRNE	ORPHA:98913
HP:0003202	Skeletal muscle atrophy	2673	GFPT1	OMIM:608931
HP:0003202	Skeletal muscle atrophy	26235	FBXL4	OMIM:615471
HP:0003202	Skeletal muscle atrophy	104	ADARB1	OMIM:618862
HP:0003202	Skeletal muscle atrophy	83932	SPRTN	OMIM:616200
HP:0003202	Skeletal muscle atrophy	6834	SURF1	OMIM:616684
HP:0003202	Skeletal muscle atrophy	4750	NEK1	OMIM:617892
HP:0003202	Skeletal muscle atrophy	4750	NEK1	ORPHA:803
HP:0003202	Skeletal muscle atrophy	1161	ERCC8	ORPHA:90324
HP:0003202	Skeletal muscle atrophy	2074	ERCC6	ORPHA:90324
HP:0003202	Skeletal muscle atrophy	9927	MFN2	OMIM:151800
HP:0003202	Skeletal muscle atrophy	8291	DYSF	OMIM:253601
HP:0003202	Skeletal muscle atrophy	57679	ALS2	ORPHA:247604
HP:0003202	Skeletal muscle atrophy	57679	ALS2	OMIM:205100
HP:0003202	Skeletal muscle atrophy	57679	ALS2	ORPHA:300605
HP:0003202	Skeletal muscle atrophy	11160	ERLIN2	ORPHA:247604
HP:0003202	Skeletal muscle atrophy	11160	ERLIN2	OMIM:611225
HP:0003202	Skeletal muscle atrophy	22947	DUX4L1	ORPHA:269
HP:0003202	Skeletal muscle atrophy	1789	DNMT3B	ORPHA:269
HP:0003202	Skeletal muscle atrophy	2483	FRG1	ORPHA:269
HP:0003202	Skeletal muscle atrophy	2483	FRG1	OMIM:158900
HP:0003202	Skeletal muscle atrophy	23347	SMCHD1	ORPHA:269
HP:0003202	Skeletal muscle atrophy	100288687	DUX4	ORPHA:269
HP:0003202	Skeletal muscle atrophy	347733	TUBB2B	ORPHA:1766
HP:0003202	Skeletal muscle atrophy	7436	VLDLR	ORPHA:1766
HP:0003202	Skeletal muscle atrophy	124997	WDR81	ORPHA:1766
HP:0003202	Skeletal muscle atrophy	51761	ATP8A2	ORPHA:1766
HP:0003202	Skeletal muscle atrophy	767	CA8	ORPHA:1766
HP:0003202	Skeletal muscle atrophy	5339	PLEC	ORPHA:254361
HP:0003202	Skeletal muscle atrophy	5339	PLEC	OMIM:613723
HP:0003202	Skeletal muscle atrophy	1729	DIAPH1	ORPHA:477814
HP:0003202	Skeletal muscle atrophy	3074	HEXB	ORPHA:309162
HP:0003202	Skeletal muscle atrophy	3074	HEXB	OMIM:268800
HP:0003202	Skeletal muscle atrophy	7273	TTN	OMIM:608807
HP:0003202	Skeletal muscle atrophy	7273	TTN	ORPHA:178464
HP:0003202	Skeletal muscle atrophy	10528	NOP56	OMIM:614153
HP:0003202	Skeletal muscle atrophy	10528	NOP56	ORPHA:276198
HP:0003202	Skeletal muscle atrophy	79147	FKRP	OMIM:606612
HP:0003202	Skeletal muscle atrophy	79147	FKRP	ORPHA:899
HP:0003202	Skeletal muscle atrophy	6772	STAT1	OMIM:614162
HP:0003202	Skeletal muscle atrophy	5832	ALDH18A1	OMIM:616586
HP:0003202	Skeletal muscle atrophy	5832	ALDH18A1	ORPHA:447760
HP:0003202	Skeletal muscle atrophy	1292	COL6A2	OMIM:620727
HP:0003202	Skeletal muscle atrophy	1292	COL6A2	OMIM:255600
HP:0003202	Skeletal muscle atrophy	6445	SGCG	OMIM:253700
HP:0003202	Skeletal muscle atrophy	54332	GDAP1	ORPHA:101097
HP:0003202	Skeletal muscle atrophy	54332	GDAP1	ORPHA:99944
HP:0003202	Skeletal muscle atrophy	5442	POLRMT	OMIM:619743
HP:0003202	Skeletal muscle atrophy	9997	SCO2	OMIM:608908
HP:0003202	Skeletal muscle atrophy	246243	RNASEH1	OMIM:616479
HP:0003202	Skeletal muscle atrophy	246243	RNASEH1	ORPHA:329336
HP:0003202	Skeletal muscle atrophy	55526	DHTKD1	OMIM:615025
HP:0003202	Skeletal muscle atrophy	93627	TBCK	ORPHA:488632
HP:0003202	Skeletal muscle atrophy	79731	NARS2	OMIM:616239
HP:0003202	Skeletal muscle atrophy	55361	PI4K2A	OMIM:620732
HP:0003202	Skeletal muscle atrophy	4747	NEFL	ORPHA:101085
HP:0003202	Skeletal muscle atrophy	5376	PMP22	ORPHA:101081
HP:0003202	Skeletal muscle atrophy	5376	PMP22	ORPHA:3115
HP:0003202	Skeletal muscle atrophy	4359	MPZ	ORPHA:101082
HP:0003202	Skeletal muscle atrophy	4359	MPZ	OMIM:618184
HP:0003202	Skeletal muscle atrophy	4359	MPZ	ORPHA:3115
HP:0003202	Skeletal muscle atrophy	57167	SALL4	ORPHA:233
HP:0003202	Skeletal muscle atrophy	9935	MAFB	ORPHA:233
HP:0003202	Skeletal muscle atrophy	1123	CHN1	ORPHA:233
HP:0003202	Skeletal muscle atrophy	92482	BBIP1	ORPHA:110
HP:0003202	Skeletal muscle atrophy	80184	CEP290	ORPHA:110
HP:0003202	Skeletal muscle atrophy	11020	IFT27	ORPHA:110
HP:0003202	Skeletal muscle atrophy	582	BBS1	ORPHA:110
HP:0003202	Skeletal muscle atrophy	49855	SCAPER	ORPHA:110
HP:0003202	Skeletal muscle atrophy	4867	NPHP1	ORPHA:110
HP:0003202	Skeletal muscle atrophy	51057	WDPCP	ORPHA:110
HP:0003202	Skeletal muscle atrophy	132320	SCLT1	ORPHA:110
HP:0003202	Skeletal muscle atrophy	27241	BBS9	ORPHA:110
HP:0003202	Skeletal muscle atrophy	84984	CEP19	ORPHA:110
HP:0003202	Skeletal muscle atrophy	22954	TRIM32	ORPHA:110
HP:0003202	Skeletal muscle atrophy	54903	MKS1	ORPHA:110
HP:0003202	Skeletal muscle atrophy	79738	BBS10	ORPHA:110
HP:0003202	Skeletal muscle atrophy	123016	TTC8	ORPHA:110
HP:0003202	Skeletal muscle atrophy	26160	IFT172	ORPHA:110
HP:0003202	Skeletal muscle atrophy	583	BBS2	ORPHA:110
HP:0003202	Skeletal muscle atrophy	585	BBS4	ORPHA:110
HP:0003202	Skeletal muscle atrophy	8195	MKKS	ORPHA:110
HP:0003202	Skeletal muscle atrophy	54585	LZTFL1	ORPHA:110
HP:0003202	Skeletal muscle atrophy	55212	BBS7	ORPHA:110
HP:0003202	Skeletal muscle atrophy	166379	BBS12	ORPHA:110
HP:0003202	Skeletal muscle atrophy	10806	SDCCAG8	ORPHA:110
HP:0003202	Skeletal muscle atrophy	157657	CFAP418	ORPHA:110
HP:0003202	Skeletal muscle atrophy	84100	ARL6	ORPHA:110
HP:0003202	Skeletal muscle atrophy	129880	BBS5	ORPHA:110
HP:0003202	Skeletal muscle atrophy	80173	IFT74	ORPHA:110
HP:0003202	Skeletal muscle atrophy	9131	AIFM1	ORPHA:101078
HP:0003202	Skeletal muscle atrophy	9131	AIFM1	OMIM:300614
HP:0003202	Skeletal muscle atrophy	9131	AIFM1	OMIM:300816
HP:0003202	Skeletal muscle atrophy	9131	AIFM1	ORPHA:238329
HP:0003202	Skeletal muscle atrophy	9131	AIFM1	OMIM:300232
HP:0003202	Skeletal muscle atrophy	55773	TBC1D23	OMIM:617695
HP:0003202	Skeletal muscle atrophy	2318	FLNC	OMIM:614065
HP:0003202	Skeletal muscle atrophy	8363	H4C11	OMIM:619759
HP:0003202	Skeletal muscle atrophy	54902	TTC19	OMIM:615157
HP:0003202	Skeletal muscle atrophy	4191	MDH2	OMIM:617339
HP:0003202	Skeletal muscle atrophy	5728	PTEN	ORPHA:109
HP:0003202	Skeletal muscle atrophy	93986	FOXP2	ORPHA:251061
HP:0003202	Skeletal muscle atrophy	472	ATM	ORPHA:100
HP:0003202	Skeletal muscle atrophy	26137	ZBTB20	OMIM:259050
HP:0003202	Skeletal muscle atrophy	6305	SBF1	OMIM:615284
HP:0003202	Skeletal muscle atrophy	2720	GLB1	OMIM:230650
HP:0003202	Skeletal muscle atrophy	4076	CAPRIN1	OMIM:620636
HP:0003202	Skeletal muscle atrophy	10020	GNE	OMIM:620757
HP:0003202	Skeletal muscle atrophy	400916	CHCHD10	OMIM:615048
HP:0003202	Skeletal muscle atrophy	400916	CHCHD10	ORPHA:803
HP:0003202	Skeletal muscle atrophy	55072	RNF31	OMIM:620632
HP:0003202	Skeletal muscle atrophy	9562	MINPP1	OMIM:619527
HP:0003202	Skeletal muscle atrophy	9562	MINPP1	ORPHA:284339
HP:0003202	Skeletal muscle atrophy	5213	PFKM	ORPHA:371
HP:0003202	Skeletal muscle atrophy	4000	LMNA	ORPHA:157973
HP:0003202	Skeletal muscle atrophy	4000	LMNA	ORPHA:79474
HP:0003202	Skeletal muscle atrophy	339855	KY	OMIM:617114
HP:0003202	Skeletal muscle atrophy	56983	POGLUT1	OMIM:617232
HP:0003202	Skeletal muscle atrophy	6240	RRM1	OMIM:620647
HP:0003202	Skeletal muscle atrophy	3339	HSPG2	OMIM:255800
HP:0003202	Skeletal muscle atrophy	3339	HSPG2	ORPHA:800
HP:0003202	Skeletal muscle atrophy	84295	PHF6	ORPHA:127
HP:0003202	Skeletal muscle atrophy	5837	PYGM	ORPHA:368
HP:0003202	Skeletal muscle atrophy	85300	ATCAY	OMIM:601238
HP:0003202	Skeletal muscle atrophy	367	AR	ORPHA:481
HP:0003202	Skeletal muscle atrophy	4509	MT-ATP8	ORPHA:480
HP:0003202	Skeletal muscle atrophy	4567	MT-TL1	ORPHA:480
HP:0003202	Skeletal muscle atrophy	50484	RRM2B	ORPHA:480
HP:0003202	Skeletal muscle atrophy	50484	RRM2B	ORPHA:329336
HP:0003202	Skeletal muscle atrophy	58497	PRUNE1	OMIM:617481
HP:0003202	Skeletal muscle atrophy	5256	PHKA2	ORPHA:264580
HP:0003202	Skeletal muscle atrophy	5261	PHKG2	ORPHA:264580
HP:0003202	Skeletal muscle atrophy	6709	SPTAN1	OMIM:620538
HP:0003202	Skeletal muscle atrophy	5081	PAX7	OMIM:618578
HP:0003202	Skeletal muscle atrophy	389827	MYMK	OMIM:254940
HP:0003202	Skeletal muscle atrophy	389827	MYMK	ORPHA:1358
HP:0003202	Skeletal muscle atrophy	8803	SUCLA2	ORPHA:1933
HP:0003202	Skeletal muscle atrophy	8803	SUCLA2	OMIM:612073
HP:0003202	Skeletal muscle atrophy	57190	SELENON	ORPHA:97244
HP:0003202	Skeletal muscle atrophy	58	ACTA1	ORPHA:97244
HP:0003202	Skeletal muscle atrophy	58	ACTA1	ORPHA:171433
HP:0003202	Skeletal muscle atrophy	58	ACTA1	ORPHA:171430
HP:0003202	Skeletal muscle atrophy	58	ACTA1	OMIM:620278
HP:0003202	Skeletal muscle atrophy	58	ACTA1	OMIM:616852
HP:0003202	Skeletal muscle atrophy	10059	DNM1L	ORPHA:330050
HP:0003202	Skeletal muscle atrophy	10059	DNM1L	ORPHA:98673
HP:0003202	Skeletal muscle atrophy	126129	CPT1C	OMIM:616282
HP:0003202	Skeletal muscle atrophy	160418	TMTC3	OMIM:617255
HP:0003202	Skeletal muscle atrophy	8506	CNTNAP1	OMIM:616286
HP:0003202	Skeletal muscle atrophy	23345	SYNE1	ORPHA:88644
HP:0003202	Skeletal muscle atrophy	56203	LMOD3	OMIM:616165
HP:0003202	Skeletal muscle atrophy	56203	LMOD3	ORPHA:171430
HP:0003202	Skeletal muscle atrophy	83548	COG3	OMIM:620546
HP:0003202	Skeletal muscle atrophy	2778	GNAS	OMIM:219080
HP:0003202	Skeletal muscle atrophy	4720	NDUFS2	OMIM:618228
HP:0003202	Skeletal muscle atrophy	203547	VMA21	OMIM:310440
HP:0003202	Skeletal muscle atrophy	7443	VRK1	OMIM:620542
HP:0003202	Skeletal muscle atrophy	7443	VRK1	ORPHA:2254
HP:0003202	Skeletal muscle atrophy	5428	POLG	OMIM:258450
HP:0003202	Skeletal muscle atrophy	5428	POLG	OMIM:157640
HP:0003202	Skeletal muscle atrophy	5428	POLG	OMIM:607459
HP:0003202	Skeletal muscle atrophy	4703	NEB	OMIM:256030
HP:0003202	Skeletal muscle atrophy	4703	NEB	ORPHA:171433
HP:0003202	Skeletal muscle atrophy	4703	NEB	ORPHA:171430
HP:0003202	Skeletal muscle atrophy	27235	COQ2	OMIM:146500
HP:0003202	Skeletal muscle atrophy	4967	OGDH	ORPHA:31
HP:0003202	Skeletal muscle atrophy	60482	SLC5A7	OMIM:617143
HP:0003202	Skeletal muscle atrophy	3714	JAG2	OMIM:619566
HP:0003202	Skeletal muscle atrophy	1294	COL7A1	ORPHA:89842
HP:0003202	Skeletal muscle atrophy	137682	NDUFAF6	OMIM:618239
HP:0003202	Skeletal muscle atrophy	2581	GALC	ORPHA:206448
HP:0003202	Skeletal muscle atrophy	6263	RYR3	OMIM:620310
HP:0003202	Skeletal muscle atrophy	4204	MECP2	ORPHA:778
HP:0003202	Skeletal muscle atrophy	4204	MECP2	OMIM:312750
HP:0003202	Skeletal muscle atrophy	84892	POMGNT2	ORPHA:899
HP:0003202	Skeletal muscle atrophy	148789	B3GALNT2	ORPHA:899
HP:0003202	Skeletal muscle atrophy	29954	POMT2	ORPHA:899
HP:0003202	Skeletal muscle atrophy	9215	LARGE1	ORPHA:899
HP:0003202	Skeletal muscle atrophy	1282	COL4A1	ORPHA:899
HP:0003202	Skeletal muscle atrophy	729920	CRPPA	ORPHA:899
HP:0003202	Skeletal muscle atrophy	729920	CRPPA	ORPHA:352479
HP:0003202	Skeletal muscle atrophy	10329	RXYLT1	ORPHA:899
HP:0003202	Skeletal muscle atrophy	1605	DAG1	ORPHA:899
HP:0003202	Skeletal muscle atrophy	11041	B4GAT1	ORPHA:899
HP:0003202	Skeletal muscle atrophy	10585	POMT1	ORPHA:899
HP:0003202	Skeletal muscle atrophy	84197	POMK	ORPHA:899
HP:0003202	Skeletal muscle atrophy	2218	FKTN	ORPHA:899
HP:0003202	Skeletal muscle atrophy	2218	FKTN	OMIM:253800
HP:0003202	Skeletal muscle atrophy	55624	POMGNT1	ORPHA:899
HP:0003202	Skeletal muscle atrophy	6904	TBCD	ORPHA:496641
HP:0003202	Skeletal muscle atrophy	6904	TBCD	OMIM:617193
HP:0003202	Skeletal muscle atrophy	427	ASAH1	OMIM:159950
HP:0003202	Skeletal muscle atrophy	427	ASAH1	ORPHA:333
HP:0003202	Skeletal muscle atrophy	4976	OPA1	ORPHA:98673
HP:0003202	Skeletal muscle atrophy	4976	OPA1	OMIM:616896
HP:0003202	Skeletal muscle atrophy	5980	REV3L	ORPHA:570
HP:0003202	Skeletal muscle atrophy	23129	PLXND1	ORPHA:570
HP:0003202	Skeletal muscle atrophy	55967	NDUFA12	OMIM:618244
HP:0003202	Skeletal muscle atrophy	7084	TK2	ORPHA:254875
HP:0003202	Skeletal muscle atrophy	7084	TK2	OMIM:617069
HP:0003202	Skeletal muscle atrophy	8878	SQSTM1	OMIM:617158
HP:0003202	Skeletal muscle atrophy	8878	SQSTM1	ORPHA:803
HP:0003202	Skeletal muscle atrophy	8878	SQSTM1	OMIM:616437
HP:0003202	Skeletal muscle atrophy	3643	INSR	OMIM:246200
HP:0003202	Skeletal muscle atrophy	3643	INSR	ORPHA:508
HP:0003202	Skeletal muscle atrophy	7169	TPM2	OMIM:609285
HP:0003202	Skeletal muscle atrophy	29920	PYCR2	ORPHA:481152
HP:0003202	Skeletal muscle atrophy	29920	PYCR2	OMIM:616420
HP:0003202	Skeletal muscle atrophy	4141	MARS1	OMIM:620323
HP:0003202	Skeletal muscle atrophy	2010	EMD	OMIM:310300
HP:0003202	Skeletal muscle atrophy	3913	LAMB2	OMIM:609049
HP:0003202	Skeletal muscle atrophy	3913	LAMB2	ORPHA:98915
HP:0003202	Skeletal muscle atrophy	2583	B4GALNT1	ORPHA:101006
HP:0003202	Skeletal muscle atrophy	23111	SPART	ORPHA:101000
HP:0003202	Skeletal muscle atrophy	6329	SCN4A	ORPHA:682
HP:0003202	Skeletal muscle atrophy	6329	SCN4A	OMIM:608390
HP:0003202	Skeletal muscle atrophy	6329	SCN4A	ORPHA:98913
HP:0003202	Skeletal muscle atrophy	8091	HMGA2	ORPHA:94063
HP:0003202	Skeletal muscle atrophy	23592	LEMD3	ORPHA:94063
HP:0003202	Skeletal muscle atrophy	51300	TIMMDC1	OMIM:618251
HP:0003202	Skeletal muscle atrophy	8802	SUCLG1	ORPHA:17
HP:0003202	Skeletal muscle atrophy	8802	SUCLG1	OMIM:245400
HP:0003202	Skeletal muscle atrophy	5277	PIGA	OMIM:300868
HP:0003202	Skeletal muscle atrophy	4714	NDUFB8	OMIM:618252
HP:0003202	Skeletal muscle atrophy	390594	KBTBD13	OMIM:609273
HP:0003202	Skeletal muscle atrophy	9049	AIP	OMIM:219090
HP:0003202	Skeletal muscle atrophy	9101	USP8	OMIM:219090
HP:0003202	Skeletal muscle atrophy	64374	SIL1	ORPHA:559
HP:0003202	Skeletal muscle atrophy	64374	SIL1	OMIM:248800
HP:0003202	Skeletal muscle atrophy	29967	LRP12	OMIM:620452
HP:0003202	Skeletal muscle atrophy	1756	DMD	ORPHA:98895
HP:0003202	Skeletal muscle atrophy	1756	DMD	ORPHA:98896
HP:0003202	Skeletal muscle atrophy	8425	LTBP4	ORPHA:98896
HP:0003202	Skeletal muscle atrophy	28982	FLVCR1	OMIM:609033
HP:0003202	Skeletal muscle atrophy	11285	B4GALT7	ORPHA:75496
HP:0003202	Skeletal muscle atrophy	11340	EXOSC8	OMIM:616081
HP:0003202	Skeletal muscle atrophy	11340	EXOSC8	ORPHA:2254
HP:0003202	Skeletal muscle atrophy	7167	TPI1	ORPHA:868
HP:0003202	Skeletal muscle atrophy	7167	TPI1	OMIM:615512
HP:0003202	Skeletal muscle atrophy	246329	STAC3	ORPHA:168572
HP:0003202	Skeletal muscle atrophy	246329	STAC3	OMIM:255995
HP:0003202	Skeletal muscle atrophy	4927	NUP88	OMIM:618393
HP:0003202	Skeletal muscle atrophy	23230	VPS13A	OMIM:200150
HP:0003202	Skeletal muscle atrophy	23287	AGTPBP1	OMIM:618276
HP:0003202	Skeletal muscle atrophy	23287	AGTPBP1	ORPHA:2254
HP:0003202	Skeletal muscle atrophy	4604	MYBPC1	OMIM:614915
HP:0003202	Skeletal muscle atrophy	5264	PHYH	ORPHA:773
HP:0003202	Skeletal muscle atrophy	5191	PEX7	ORPHA:773
HP:0003202	Skeletal muscle atrophy	1493	CTLA4	ORPHA:3162
HP:0003202	Skeletal muscle atrophy	940	CD28	ORPHA:3162
HP:0003202	Skeletal muscle atrophy	7133	TNFRSF1B	ORPHA:3162
HP:0003202	Skeletal muscle atrophy	1716	DGUOK	OMIM:617070
HP:0003202	Skeletal muscle atrophy	2733	GLE1	OMIM:611890
HP:0003202	Skeletal muscle atrophy	2733	GLE1	ORPHA:803
HP:0003202	Skeletal muscle atrophy	2733	GLE1	ORPHA:1486
HP:0003202	Skeletal muscle atrophy	2733	GLE1	OMIM:253310
HP:0003202	Skeletal muscle atrophy	60386	SLC25A19	OMIM:613710
HP:0003202	Skeletal muscle atrophy	7415	VCP	OMIM:613954
HP:0003202	Skeletal muscle atrophy	7415	VCP	ORPHA:803
HP:0003202	Skeletal muscle atrophy	4683	NBN	ORPHA:647
HP:0003202	Skeletal muscle atrophy	5354	PLP1	OMIM:312920
HP:0003202	Skeletal muscle atrophy	5216	PFN1	OMIM:614808
HP:0003202	Skeletal muscle atrophy	5216	PFN1	ORPHA:803
HP:0003202	Skeletal muscle atrophy	23299	BICD2	OMIM:618291
HP:0003202	Skeletal muscle atrophy	5965	RECQL	OMIM:620370
HP:0003202	Skeletal muscle atrophy	114034	TOE1	ORPHA:284339
HP:0003202	Skeletal muscle atrophy	114034	TOE1	OMIM:614969
HP:0003202	Skeletal muscle atrophy	91574	MTRFR	ORPHA:320375
HP:0003202	Skeletal muscle atrophy	91574	MTRFR	ORPHA:254930
HP:0003202	Skeletal muscle atrophy	91574	MTRFR	OMIM:613559
HP:0003202	Skeletal muscle atrophy	1291	COL6A1	OMIM:158810
HP:0003202	Skeletal muscle atrophy	87178	PNPT1	OMIM:614932
HP:0003202	Skeletal muscle atrophy	90523	MLIP	OMIM:620138
HP:0003202	Skeletal muscle atrophy	5696	PSMB8	OMIM:256040
HP:0003202	Skeletal muscle atrophy	65055	REEP1	OMIM:620011
HP:0003202	Skeletal muscle atrophy	65055	REEP1	OMIM:610250
HP:0003202	Skeletal muscle atrophy	50846	DHH	ORPHA:168563
HP:0003202	Skeletal muscle atrophy	4702	NDUFA8	OMIM:619272
HP:0003202	Skeletal muscle atrophy	158	ADSL	OMIM:103050
HP:0003202	Skeletal muscle atrophy	7148	TNXB	ORPHA:230839
HP:0003202	Skeletal muscle atrophy	652	BMP4	ORPHA:828
HP:0003202	Skeletal muscle atrophy	7138	TNNT1	OMIM:620389
HP:0003202	Skeletal muscle atrophy	4758	NEU1	OMIM:256550
HP:0003202	Skeletal muscle atrophy	4758	NEU1	ORPHA:812
HP:0003202	Skeletal muscle atrophy	10479	SLC9A6	OMIM:300243
HP:0003202	Skeletal muscle atrophy	10324	KLHL41	ORPHA:171433
HP:0003202	Skeletal muscle atrophy	10324	KLHL41	ORPHA:171430
HP:0003202	Skeletal muscle atrophy	7170	TPM3	ORPHA:171433
HP:0003202	Skeletal muscle atrophy	57222	ERGIC1	OMIM:208100
HP:0003202	Skeletal muscle atrophy	57222	ERGIC1	ORPHA:1143
HP:0003202	Skeletal muscle atrophy	131377	KLHL40	ORPHA:171430
HP:0003202	Skeletal muscle atrophy	80055	PGAP1	OMIM:615802
HP:0003202	Skeletal muscle atrophy	9197	SLC33A1	OMIM:612539
HP:0003202	Skeletal muscle atrophy	6335	SCN9A	ORPHA:970
HP:0003202	Skeletal muscle atrophy	65125	WNK1	ORPHA:970
HP:0003202	Skeletal muscle atrophy	54463	RETREG1	ORPHA:970
HP:0003202	Skeletal muscle atrophy	547	KIF1A	ORPHA:970
HP:0003202	Skeletal muscle atrophy	2273	FHL1	OMIM:300696
HP:0003202	Skeletal muscle atrophy	2273	FHL1	OMIM:300695
HP:0003202	Skeletal muscle atrophy	7040	TGFB1	OMIM:131300
HP:0003202	Skeletal muscle atrophy	7040	TGFB1	ORPHA:1328
HP:0003202	Skeletal muscle atrophy	6261	RYR1	OMIM:255320
HP:0003202	Skeletal muscle atrophy	6261	RYR1	OMIM:117000
HP:0003202	Skeletal muscle atrophy	6261	RYR1	ORPHA:98905
HP:0003202	Skeletal muscle atrophy	966	CD59	OMIM:612300
HP:0003202	Skeletal muscle atrophy	340061	STING1	OMIM:615934
HP:0003202	Skeletal muscle atrophy	7555	CNBP	ORPHA:606
HP:0003202	Skeletal muscle atrophy	64087	MCCC2	OMIM:210210
HP:0003202	Skeletal muscle atrophy	4151	MB	OMIM:620286
HP:0003202	Skeletal muscle atrophy	823	CAPN1	OMIM:616907
HP:0003202	Skeletal muscle atrophy	823	CAPN1	ORPHA:488594
HP:0003202	Skeletal muscle atrophy	56984	PSMG2	OMIM:619183
HP:0003202	Skeletal muscle atrophy	7274	TTPA	ORPHA:96
HP:0003202	Skeletal muscle atrophy	23400	ATP13A2	ORPHA:513436
HP:0003202	Skeletal muscle atrophy	1280	COL2A1	ORPHA:2380
HP:0003202	Skeletal muscle atrophy	118429	ANTXR2	ORPHA:2028
HP:0003202	Skeletal muscle atrophy	84342	COG8	ORPHA:95428
HP:0003202	Skeletal muscle atrophy	11284	PNKP	OMIM:613402
HP:0003202	Skeletal muscle atrophy	649	BMP1	OMIM:614856
HP:0003202	Skeletal muscle atrophy	55157	DARS2	OMIM:611105
HP:0003202	Skeletal muscle atrophy	374393	FAM111B	OMIM:615704
HP:0003202	Skeletal muscle atrophy	113278	SLC52A3	OMIM:211530
HP:0003202	Skeletal muscle atrophy	5255	PHKA1	ORPHA:715
HP:0003202	Skeletal muscle atrophy	5255	PHKA1	OMIM:300559
HP:0003202	Skeletal muscle atrophy	5260	PHKG1	ORPHA:715
HP:0003202	Skeletal muscle atrophy	3475	IFRD1	ORPHA:98771
HP:0003202	Skeletal muscle atrophy	10801	SEPTIN9	OMIM:162100
HP:0003202	Skeletal muscle atrophy	8905	AP1S2	ORPHA:85335
HP:0003202	Skeletal muscle atrophy	8905	AP1S2	ORPHA:85329
HP:0003202	Skeletal muscle atrophy	5393	EXOSC9	ORPHA:2254
HP:0003202	Skeletal muscle atrophy	51010	EXOSC3	ORPHA:2254
HP:0003202	Skeletal muscle atrophy	51010	EXOSC3	OMIM:614678
HP:0003202	Skeletal muscle atrophy	91137	SLC25A46	ORPHA:2254
HP:0003202	Skeletal muscle atrophy	7486	WRN	ORPHA:902
HP:0003202	Skeletal muscle atrophy	6609	SMPD1	OMIM:257200
HP:0003202	Skeletal muscle atrophy	10613	ERLIN1	ORPHA:401785
HP:0003202	Skeletal muscle atrophy	10613	ERLIN1	OMIM:615681
HP:0003202	Skeletal muscle atrophy	2521	FUS	ORPHA:300605
HP:0003202	Skeletal muscle atrophy	2521	FUS	ORPHA:803
HP:0003202	Skeletal muscle atrophy	80208	SPG11	ORPHA:300605
HP:0003202	Skeletal muscle atrophy	80208	SPG11	OMIM:604360
HP:0003202	Skeletal muscle atrophy	10280	SIGMAR1	ORPHA:300605
HP:0003202	Skeletal muscle atrophy	10558	SPTLC1	ORPHA:300605
HP:0003202	Skeletal muscle atrophy	10558	SPTLC1	OMIM:162400
HP:0003202	Skeletal muscle atrophy	9896	FIG4	OMIM:612577
HP:0003202	Skeletal muscle atrophy	9896	FIG4	ORPHA:803
HP:0003202	Skeletal muscle atrophy	11149	POPDC1	OMIM:616812
HP:0003202	Skeletal muscle atrophy	23396	PIP5K1C	OMIM:611369
HP:0003202	Skeletal muscle atrophy	2065	ERBB3	OMIM:607598
HP:0003202	Skeletal muscle atrophy	6310	ATXN1	ORPHA:98755
HP:0003202	Skeletal muscle atrophy	6310	ATXN1	OMIM:164400
HP:0003202	Skeletal muscle atrophy	34	ACADM	ORPHA:42
HP:0003202	Skeletal muscle atrophy	6389	SDHA	ORPHA:3208
HP:0003202	Skeletal muscle atrophy	6390	SDHB	ORPHA:3208
HP:0003202	Skeletal muscle atrophy	6392	SDHD	ORPHA:3208
HP:0003202	Skeletal muscle atrophy	644096	SDHAF1	ORPHA:3208
HP:0003202	Skeletal muscle atrophy	7317	UBA1	ORPHA:1145
HP:0003202	Skeletal muscle atrophy	55681	SCYL2	ORPHA:1143
HP:0003202	Skeletal muscle atrophy	84570	COL25A1	ORPHA:1143
HP:0003202	Skeletal muscle atrophy	84317	CCDC115	OMIM:616828
HP:0003202	Skeletal muscle atrophy	55679	LIMS2	OMIM:616827
HP:0003202	Skeletal muscle atrophy	3954	LETM1	OMIM:620089
HP:0003202	Skeletal muscle atrophy	25978	CHMP2B	ORPHA:803
HP:0003202	Skeletal muscle atrophy	3178	HNRNPA1	ORPHA:803
HP:0003202	Skeletal muscle atrophy	8148	TAF15	ORPHA:803
HP:0003202	Skeletal muscle atrophy	5445	PON2	ORPHA:803
HP:0003202	Skeletal muscle atrophy	9217	VAPB	ORPHA:803
HP:0003202	Skeletal muscle atrophy	9217	VAPB	OMIM:608627
HP:0003202	Skeletal muscle atrophy	5630	PRPH	ORPHA:803
HP:0003202	Skeletal muscle atrophy	5630	PRPH	OMIM:105400
HP:0003202	Skeletal muscle atrophy	29110	TBK1	ORPHA:803
HP:0003202	Skeletal muscle atrophy	29110	TBK1	OMIM:616439
HP:0003202	Skeletal muscle atrophy	55830	GLT8D1	ORPHA:803
HP:0003202	Skeletal muscle atrophy	755	CFAP410	ORPHA:803
HP:0003202	Skeletal muscle atrophy	10891	PPARGC1A	ORPHA:803
HP:0003202	Skeletal muscle atrophy	6647	SOD1	ORPHA:803
HP:0003202	Skeletal muscle atrophy	6647	SOD1	OMIM:105400
HP:0003202	Skeletal muscle atrophy	10133	OPTN	ORPHA:803
HP:0003202	Skeletal muscle atrophy	1639	DCTN1	ORPHA:803
HP:0003202	Skeletal muscle atrophy	1639	DCTN1	OMIM:105400
HP:0003202	Skeletal muscle atrophy	5444	PON1	ORPHA:803
HP:0003202	Skeletal muscle atrophy	5446	PON3	ORPHA:803
HP:0003202	Skeletal muscle atrophy	4744	NEFH	ORPHA:803
HP:0003202	Skeletal muscle atrophy	4744	NEFH	OMIM:105400
HP:0003202	Skeletal muscle atrophy	9782	MATR3	ORPHA:803
HP:0003202	Skeletal muscle atrophy	54209	TREM2	ORPHA:803
HP:0003202	Skeletal muscle atrophy	283	ANG	ORPHA:803
HP:0003202	Skeletal muscle atrophy	23435	TARDBP	ORPHA:803
HP:0003202	Skeletal muscle atrophy	23435	TARDBP	OMIM:612069
HP:0003202	Skeletal muscle atrophy	29978	UBQLN2	ORPHA:803
HP:0003202	Skeletal muscle atrophy	6311	ATXN2	ORPHA:803
HP:0003202	Skeletal muscle atrophy	1610	DAO	ORPHA:803
HP:0003202	Skeletal muscle atrophy	2066	ERBB4	ORPHA:803
HP:0003202	Skeletal muscle atrophy	311	ANXA11	ORPHA:803
HP:0003202	Skeletal muscle atrophy	23025	UNC13A	ORPHA:803
HP:0003202	Skeletal muscle atrophy	899	CCNF	ORPHA:803
HP:0003202	Skeletal muscle atrophy	23479	ISCU	OMIM:255125
HP:0003202	Skeletal muscle atrophy	6567	SLC16A2	ORPHA:59
HP:0003202	Skeletal muscle atrophy	56652	TWNK	OMIM:607459
HP:0003202	Skeletal muscle atrophy	3991	LIPE	OMIM:615980
HP:0003202	Skeletal muscle atrophy	57716	PRX	OMIM:614895
HP:0003202	Skeletal muscle atrophy	3679	ITGA7	OMIM:613204
HP:0003202	Skeletal muscle atrophy	63895	PIEZO2	ORPHA:2461
HP:0003202	Skeletal muscle atrophy	57410	SCYL1	OMIM:616719
HP:0003202	Skeletal muscle atrophy	5830	PEX5	OMIM:616716
HP:0003202	Skeletal muscle atrophy	10075	HUWE1	OMIM:309590
HP:0003202	Skeletal muscle atrophy	91949	COG7	OMIM:608779
HP:0003202	Skeletal muscle atrophy	123606	NIPA1	ORPHA:100988
HP:0003202	Skeletal muscle atrophy	270	AMPD1	OMIM:615511
HP:0003202	Skeletal muscle atrophy	2632	GBE1	OMIM:232500
HP:0003202	Skeletal muscle atrophy	79188	TMEM43	OMIM:614302
HP:0003202	Skeletal muscle atrophy	132	ADK	OMIM:614300
HP:0003202	Skeletal muscle atrophy	113235	SLC46A1	ORPHA:90045
HP:0003202	Skeletal muscle atrophy	6606	SMN1	OMIM:253550
HP:0003202	Skeletal muscle atrophy	55033	FKBP14	OMIM:614557
HP:0003202	Skeletal muscle atrophy	55033	FKBP14	ORPHA:300179
HP:0003202	Skeletal muscle atrophy	54820	NDE1	OMIM:605013
HP:0003202	Skeletal muscle atrophy	101929726	MYMX	ORPHA:1358
HP:0003202	Skeletal muscle atrophy	2316	FLNA	OMIM:305620
HP:0003202	Skeletal muscle atrophy	10352	WARS2	OMIM:617710
HP:0003202	Skeletal muscle atrophy	6331	SCN5A	ORPHA:1344
HP:0003202	Skeletal muscle atrophy	4878	NPPA	ORPHA:1344
HP:0003202	Skeletal muscle atrophy	4358	MPV17	OMIM:256810
HP:0003202	Skeletal muscle atrophy	10616	RBCK1	OMIM:615895
HP:0003202	Skeletal muscle atrophy	51008	ASCC1	OMIM:616867
HP:0003202	Skeletal muscle atrophy	5257	PHKB	ORPHA:79240
HP:0003202	Skeletal muscle atrophy	291	SLC25A4	OMIM:615418
HP:0003202	Skeletal muscle atrophy	259232	NALCN	OMIM:615419
HP:0003202	Skeletal muscle atrophy	9056	SLC7A7	OMIM:222700
HP:0003202	Skeletal muscle atrophy	271	AMPD2	ORPHA:401805
HP:0003202	Skeletal muscle atrophy	271	AMPD2	OMIM:615686
HP:0003202	Skeletal muscle atrophy	4507	MTAP	OMIM:112250
HP:0003202	Skeletal muscle atrophy	3181	HNRNPA2B1	OMIM:615422
HP:0003202	Skeletal muscle atrophy	4287	ATXN3	ORPHA:276238
HP:0003202	Skeletal muscle atrophy	4287	ATXN3	ORPHA:276244
HP:0003202	Skeletal muscle atrophy	4287	ATXN3	ORPHA:276241
HP:0003202	Skeletal muscle atrophy	6197	RPS6KA3	ORPHA:192
HP:0003202	Skeletal muscle atrophy	203228	C9orf72	OMIM:105550
HP:0003202	Skeletal muscle atrophy	23064	SETX	ORPHA:357043
HP:0003202	Skeletal muscle atrophy	953	ENTPD1	OMIM:615683
HP:0003202	Skeletal muscle atrophy	8292	COLQ	ORPHA:98915
HP:0003202	Skeletal muscle atrophy	1134	CHRNA1	ORPHA:98913
HP:0003202	Skeletal muscle atrophy	4038	LRP4	ORPHA:98913
HP:0003202	Skeletal muscle atrophy	1305	COL13A1	ORPHA:98913
HP:0003202	Skeletal muscle atrophy	1140	CHRNB1	ORPHA:98913
HP:0003202	Skeletal muscle atrophy	1140	CHRNB1	OMIM:616313
HP:0003202	Skeletal muscle atrophy	1144	CHRND	ORPHA:98913
HP:0003202	Skeletal muscle atrophy	4593	MUSK	ORPHA:98913
HP:0003202	Skeletal muscle atrophy	5913	RAPSN	ORPHA:98913
HP:0003202	Skeletal muscle atrophy	375790	AGRN	ORPHA:98913
HP:0003202	Skeletal muscle atrophy	221264	AK9	ORPHA:98913
HP:0003202	Skeletal muscle atrophy	285489	DOK7	ORPHA:98913
HP:0003202	Skeletal muscle atrophy	5296	PIK3R2	OMIM:603387
HP:0003202	Skeletal muscle atrophy	3094	HINT1	OMIM:137200
HP:0003202	Skeletal muscle atrophy	119559	SFXN4	OMIM:615578
HP:0003202	Skeletal muscle atrophy	4724	NDUFS4	OMIM:252010
HP:0003202	Skeletal muscle atrophy	5430	POLR2A	OMIM:618603
HP:0003202	Skeletal muscle atrophy	4621	MYH3	ORPHA:2990
HP:0003202	Skeletal muscle atrophy	1146	CHRNG	ORPHA:2990
HP:0003202	Skeletal muscle atrophy	22978	NT5C2	OMIM:613162
HP:0003202	Skeletal muscle atrophy	51776	MAP3K20	OMIM:617760
HP:0003202	Skeletal muscle atrophy	16	AARS1	OMIM:613287
HP:0003202	Skeletal muscle atrophy	55131	RBM28	OMIM:612079
HP:0003202	Skeletal muscle atrophy	9990	SLC12A6	OMIM:218000
HP:0003202	Skeletal muscle atrophy	1311	COMP	OMIM:619161
HP:0003202	Skeletal muscle atrophy	91252	SLC39A13	ORPHA:157965
HP:0003202	Skeletal muscle atrophy	91252	SLC39A13	OMIM:612350
HP:0003202	Skeletal muscle atrophy	8985	PLOD3	OMIM:612394
HP:0003202	Skeletal muscle atrophy	3710	ITPR3	OMIM:620111
HP:0003202	Skeletal muscle atrophy	3425	IDUA	OMIM:607015
HP:0003202	Skeletal muscle atrophy	9898	UBAP2L	OMIM:620494
HP:0003202	Skeletal muscle atrophy	10749	KIF1C	ORPHA:397946
HP:0003202	Skeletal muscle atrophy	10749	KIF1C	OMIM:611302
HP:0003202	Skeletal muscle atrophy	7072	TIA1	OMIM:604454
HP:0003202	Skeletal muscle atrophy	23769	FLRT1	ORPHA:320406
HP:0003202	Skeletal muscle atrophy	64837	KLC2	ORPHA:320406
HP:0003202	Skeletal muscle atrophy	64837	KLC2	OMIM:609541
HP:0003202	Skeletal muscle atrophy	127833	SYT2	OMIM:616040
HP:0003202	Skeletal muscle atrophy	127833	SYT2	ORPHA:98914
HP:0003202	Skeletal muscle atrophy	6683	SPAST	ORPHA:100985
HP:0003202	Skeletal muscle atrophy	112	ADCY6	OMIM:616287
HP:0003202	Skeletal muscle atrophy	22880	MORC2	OMIM:616688
HP:0003202	Skeletal muscle atrophy	22880	MORC2	ORPHA:466768
HP:0003202	Skeletal muscle atrophy	4311	MME	OMIM:617018
HP:0003202	Skeletal muscle atrophy	4311	MME	ORPHA:497764
HP:0003202	Skeletal muscle atrophy	50717	DCAF8	OMIM:610100
HP:0003202	Skeletal muscle atrophy	57704	GBA2	ORPHA:352641
HP:0003202	Skeletal muscle atrophy	19	ABCA1	OMIM:205400
HP:0003202	Skeletal muscle atrophy	2617	GARS1	ORPHA:139536
HP:0003202	Skeletal muscle atrophy	2617	GARS1	OMIM:619042
HP:0003202	Skeletal muscle atrophy	2617	GARS1	OMIM:600794
HP:0003202	Skeletal muscle atrophy	2617	GARS1	OMIM:601472
HP:0003202	Skeletal muscle atrophy	26580	BSCL2	ORPHA:139536
HP:0003202	Skeletal muscle atrophy	26580	BSCL2	OMIM:270685
HP:0003202	Skeletal muscle atrophy	26580	BSCL2	ORPHA:100998
HP:0003202	Skeletal muscle atrophy	55775	TDP1	ORPHA:94124
HP:0003202	Skeletal muscle atrophy	55775	TDP1	OMIM:607250
HP:0003202	Skeletal muscle atrophy	10516	FBLN5	OMIM:608895
HP:0003202	Skeletal muscle atrophy	7879	RAB7A	OMIM:600882
HP:0003202	Skeletal muscle atrophy	200205	IBA57	ORPHA:468661
HP:0003202	Skeletal muscle atrophy	1959	EGR2	OMIM:607678
HP:0003202	Skeletal muscle atrophy	1959	EGR2	OMIM:605253
HP:0003202	Skeletal muscle atrophy	1959	EGR2	OMIM:145900
HP:0003202	Skeletal muscle atrophy	10743	RAI1	ORPHA:477817
HP:0003202	Skeletal muscle atrophy	56704	JPH1	OMIM:607831
HP:0003202	Skeletal muscle atrophy	10397	NDRG1	OMIM:601455
HP:0003202	Skeletal muscle atrophy	55187	VPS13D	OMIM:607317
HP:0003202	Skeletal muscle atrophy	538	ATP7A	OMIM:300489
HP:0003202	Skeletal muscle atrophy	6905	TBCE	ORPHA:496756
HP:0003202	Skeletal muscle atrophy	6905	TBCE	OMIM:617207
HP:0003202	Skeletal muscle atrophy	80347	COASY	OMIM:615643
HP:0003202	Skeletal muscle atrophy	90678	LRSAM1	OMIM:614436
HP:0003202	Skeletal muscle atrophy	10908	PNPLA6	OMIM:275400
HP:0003202	Skeletal muscle atrophy	10908	PNPLA6	OMIM:612020
HP:0003202	Skeletal muscle atrophy	10908	PNPLA6	OMIM:215470
HP:0003202	Skeletal muscle atrophy	3508	IGHMBP2	OMIM:604320
HP:0003202	Skeletal muscle atrophy	81846	SBF2	OMIM:604563
HP:0003202	Skeletal muscle atrophy	122622	ADSS1	OMIM:617030
HP:0003202	Skeletal muscle atrophy	4704	NDUFA9	OMIM:618247
HP:0003202	Skeletal muscle atrophy	55154	MSTO1	OMIM:617675
HP:0003202	Skeletal muscle atrophy	55906	ZC4H2	OMIM:314580
HP:0003202	Skeletal muscle atrophy	55906	ZC4H2	ORPHA:3454
HP:0003202	Skeletal muscle atrophy	57449	PLEKHG5	OMIM:615376
HP:0003202	Skeletal muscle atrophy	57449	PLEKHG5	OMIM:611067
HP:0003202	Skeletal muscle atrophy	5631	PRPS1	OMIM:311070
HP:0003202	Skeletal muscle atrophy	3035	HARS1	OMIM:616625
HP:0003202	Skeletal muscle atrophy	4361	MRE11	OMIM:604391
HP:0003202	Skeletal muscle atrophy	9499	MYOT	OMIM:609200
HP:0003202	Skeletal muscle atrophy	9499	MYOT	ORPHA:98911
HP:0003202	Skeletal muscle atrophy	10939	AFG3L2	ORPHA:313772
HP:0003202	Skeletal muscle atrophy	10939	AFG3L2	OMIM:614487
HP:0003202	Skeletal muscle atrophy	26278	SACS	ORPHA:98
HP:0003202	Skeletal muscle atrophy	26278	SACS	OMIM:270550
HP:0003202	Skeletal muscle atrophy	51651	PTRH2	ORPHA:456312
HP:0003202	Skeletal muscle atrophy	83636	C19orf12	OMIM:614298
HP:0003202	Skeletal muscle atrophy	83636	C19orf12	OMIM:615043
HP:0003202	Skeletal muscle atrophy	26090	ABHD12	OMIM:612674
HP:0003202	Skeletal muscle atrophy	88	ACTN2	OMIM:618655
HP:0003202	Skeletal muscle atrophy	54840	APTX	OMIM:208920
HP:0003202	Skeletal muscle atrophy	89874	SLC25A21	OMIM:618811
HP:0003202	Skeletal muscle atrophy	59341	TRPV4	ORPHA:1216
HP:0003202	Skeletal muscle atrophy	59341	TRPV4	OMIM:600175
HP:0003202	Skeletal muscle atrophy	25923	ATL3	ORPHA:36386
HP:0003202	Skeletal muscle atrophy	9517	SPTLC2	ORPHA:36386
HP:0003202	Skeletal muscle atrophy	51062	ATL1	ORPHA:36386
HP:0003202	Skeletal muscle atrophy	81857	MED25	OMIM:605589
HP:0003202	Skeletal muscle atrophy	65260	COA7	OMIM:618387
HP:0003202	Skeletal muscle atrophy	203859	ANO5	ORPHA:399096
HP:0003202	Skeletal muscle atrophy	100996717	NOTCH2NLC	OMIM:619473
HP:0003202	Skeletal muscle atrophy	22948	CCT5	ORPHA:139578
HP:0003202	Skeletal muscle atrophy	22948	CCT5	OMIM:256840
HP:0003202	Skeletal muscle atrophy	1593	CYP27A1	ORPHA:909
HP:0003202	Skeletal muscle atrophy	57863	CADM3	OMIM:619519
HP:0003202	Skeletal muscle atrophy	1890	TYMP	OMIM:603041
HP:0003202	Skeletal muscle atrophy	6607	SMN2	OMIM:253400
HP:0003202	Skeletal muscle atrophy	8898	MTMR2	OMIM:601382
HP:0003202	Skeletal muscle atrophy	23503	ZFYVE26	OMIM:270700
HP:0003202	Skeletal muscle atrophy	23503	ZFYVE26	ORPHA:100996
HP:0003202	Skeletal muscle atrophy	55210	ATAD3A	OMIM:617183
HP:0003202	Skeletal muscle atrophy	476	ATP1A1	OMIM:618036
HP:0003202	Skeletal muscle atrophy	5375	PMP2	OMIM:618279
HP:0003202	Skeletal muscle atrophy	23095	KIF1B	OMIM:118210
HP:0003202	Skeletal muscle atrophy	5192	PEX10	OMIM:614871
HP:0003202	Skeletal muscle atrophy	4649	MYO9A	ORPHA:98914
HP:0003202	Skeletal muscle atrophy	1103	CHAT	ORPHA:98914
HP:0003202	Skeletal muscle atrophy	6576	SLC25A1	ORPHA:98914
HP:0003202	Skeletal muscle atrophy	6843	VAMP1	ORPHA:98914
HP:0003202	Skeletal muscle atrophy	6572	SLC18A3	ORPHA:98914
HP:0003202	Skeletal muscle atrophy	6616	SNAP25	ORPHA:98914
HP:0003202	Skeletal muscle atrophy	11261	CHP1	OMIM:618438
HP:0003202	Skeletal muscle atrophy	6663	SOX10	OMIM:609136
HP:0003202	Skeletal muscle atrophy	8565	YARS1	OMIM:608323
HP:0003202	Skeletal muscle atrophy	9516	LITAF	OMIM:601098
HP:0003202	Skeletal muscle atrophy	9147	NEMF	OMIM:619099
HP:0003202	Skeletal muscle atrophy	178	AGL	OMIM:232400
HP:0003202	Skeletal muscle atrophy	10273	STUB1	ORPHA:412057
HP:0003202	Skeletal muscle atrophy	79784	MYH14	OMIM:614369
HP:0003202	Skeletal muscle atrophy	23533	PIK3R5	OMIM:615217
HP:0003202	Skeletal muscle atrophy	57731	SPTBN4	OMIM:617519
HP:0003202	Skeletal muscle atrophy	26353	HSPB8	OMIM:608673
HP:0003202	Skeletal muscle atrophy	3098	HK1	ORPHA:99953
HP:0003202	Skeletal muscle atrophy	8139	GAN	OMIM:256850
HP:0003202	Skeletal muscle atrophy	79628	SH3TC2	OMIM:601596
HP:0003202	Skeletal muscle atrophy	79628	SH3TC2	ORPHA:99949
HP:0003202	Skeletal muscle atrophy	1785	DNM2	OMIM:606482
HP:0003202	Skeletal muscle atrophy	8729	GBF1	OMIM:606483
HP:0003202	Skeletal muscle atrophy	4625	MYH7	OMIM:255160
HP:0003202	Skeletal muscle atrophy	4625	MYH7	OMIM:608358
HP:0003202	Skeletal muscle atrophy	274	BIN1	ORPHA:169186
HP:0003202	Skeletal muscle atrophy	274	BIN1	OMIM:255200
HP:0003202	Skeletal muscle atrophy	10290	SPEG	ORPHA:169186
HP:0003202	Skeletal muscle atrophy	55605	KIF21A	ORPHA:994
HP:0003202	Skeletal muscle atrophy	7846	TUBA1A	ORPHA:994
HP:0003202	Skeletal muscle atrophy	4654	MYOD1	ORPHA:994
HP:0003202	Skeletal muscle atrophy	54551	MAGEL2	ORPHA:994
HP:0003202	Skeletal muscle atrophy	1763	DNA2	OMIM:615156
HP:0003202	Skeletal muscle atrophy	2517	FUCA1	OMIM:230000
HP:0003202	Skeletal muscle atrophy	79912	PYROXD1	OMIM:617258
HP:0003202	Skeletal muscle atrophy	11128	POLR3A	OMIM:264090
HP:0003202	Skeletal muscle atrophy	79581	SLC52A2	OMIM:614707
HP:0003202	Skeletal muscle atrophy	1303	COL12A1	ORPHA:75840
HP:0003202	Skeletal muscle atrophy	1303	COL12A1	ORPHA:610
HP:0003202	Skeletal muscle atrophy	1293	COL6A3	ORPHA:75840
HP:0003202	Skeletal muscle atrophy	1293	COL6A3	ORPHA:610
HP:0003202	Skeletal muscle atrophy	92667	MGME1	ORPHA:352447
HP:0003202	Skeletal muscle atrophy	92667	MGME1	OMIM:615084
HP:0003202	Skeletal muscle atrophy	81790	RNF170	OMIM:619686
HP:0003202	Skeletal muscle atrophy	55152	DALRD3	OMIM:618910
HP:0003202	Skeletal muscle atrophy	2859	GPR35	ORPHA:171
HP:0003202	Skeletal muscle atrophy	10507	SEMA4D	ORPHA:171
HP:0003202	Skeletal muscle atrophy	4485	MST1	ORPHA:171
HP:0003202	Skeletal muscle atrophy	6925	TCF4	ORPHA:171
HP:0003202	Skeletal muscle atrophy	3920	LAMP2	OMIM:300257
HP:0003202	Skeletal muscle atrophy	84823	LMNB2	OMIM:616540
HP:0003202	Skeletal muscle atrophy	84665	MYPN	ORPHA:171881
HP:0003202	Skeletal muscle atrophy	146862	UNC45B	OMIM:619178
HP:0003202	Skeletal muscle atrophy	4668	NAGA	OMIM:609241
HP:0003202	Skeletal muscle atrophy	4668	NAGA	ORPHA:79279
HP:0003202	Skeletal muscle atrophy	131118	DNAJC19	ORPHA:66634
HP:0003202	Skeletal muscle atrophy	9325	TRIP4	OMIM:616866
HP:0003202	Skeletal muscle atrophy	36	ACADSB	OMIM:610006
HP:0003202	Skeletal muscle atrophy	205327	C2orf69	OMIM:619423
HP:0003202	Skeletal muscle atrophy	51067	YARS2	OMIM:613561
HP:0003202	Skeletal muscle atrophy	9531	BAG3	OMIM:612954
HP:0003202	Skeletal muscle atrophy	60	ACTB	ORPHA:64755
HP:0003202	Skeletal muscle atrophy	6442	SGCA	OMIM:608099
HP:0003202	Skeletal muscle atrophy	60684	TRAPPC11	ORPHA:369840
HP:0003202	Skeletal muscle atrophy	60684	TRAPPC11	ORPHA:369847
HP:0003202	Skeletal muscle atrophy	60684	TRAPPC11	OMIM:615356
HP:0003202	Skeletal muscle atrophy	9987	HNRNPDL	OMIM:609115
HP:0003202	Skeletal muscle atrophy	54344	DPM3	OMIM:612937
HP:0003202	Skeletal muscle atrophy	6444	SGCD	OMIM:601287
HP:0003202	Skeletal muscle atrophy	84196	USP48	ORPHA:96253
HP:0003202	Skeletal muscle atrophy	7157	TP53	ORPHA:96253
HP:0003202	Skeletal muscle atrophy	64072	CDH23	ORPHA:96253
HP:0003202	Skeletal muscle atrophy	2908	NR3C1	ORPHA:96253
HP:0003202	Skeletal muscle atrophy	673	BRAF	ORPHA:96253
HP:0003202	Skeletal muscle atrophy	546	ATRX	ORPHA:96253
HP:0003202	Skeletal muscle atrophy	825	CAPN3	OMIM:618129
HP:0003202	Skeletal muscle atrophy	825	CAPN3	OMIM:253600
HP:0003202	Skeletal muscle atrophy	5190	PEX6	ORPHA:95433
HP:0003202	Skeletal muscle atrophy	4556	MT-TE	ORPHA:2596
HP:0003202	Skeletal muscle atrophy	64419	MTMR14	OMIM:160150
HP:0003202	Skeletal muscle atrophy	51763	INPP5K	OMIM:617404
HP:0003202	Skeletal muscle atrophy	79798	ARMC5	ORPHA:189427
HP:0003202	Skeletal muscle atrophy	23028	KDM1A	ORPHA:189427
HP:0003202	Skeletal muscle atrophy	23224	SYNE2	OMIM:612999
HP:0003202	Skeletal muscle atrophy	10342	TFG	OMIM:604484
HP:0003202	Skeletal muscle atrophy	6443	SGCB	OMIM:604286
HP:0003202	Skeletal muscle atrophy	6786	STIM1	OMIM:160565
HP:0003202	Skeletal muscle atrophy	59345	GNB4	OMIM:615185
HP:0003202	Skeletal muscle atrophy	7143	TNR	OMIM:619653
HP:0003202	Skeletal muscle atrophy	65250	CPLANE1	ORPHA:65684
HP:0003202	Skeletal muscle atrophy	57562	CEP126	ORPHA:65684
HP:0003202	Skeletal muscle atrophy	2705	GJB1	OMIM:302800
HP:0003202	Skeletal muscle atrophy	2705	GJB1	ORPHA:101075
HP:0003202	Skeletal muscle atrophy	8988	HSPB3	OMIM:613376
HP:0003202	Skeletal muscle atrophy	64423	INF2	OMIM:614455
HP:0003202	Skeletal muscle atrophy	7453	WARS1	OMIM:617721
HP:0003202	Skeletal muscle atrophy	353116	RILPL1	ORPHA:98897
HP:0003202	Skeletal muscle atrophy	10755	GIPC1	ORPHA:98897
HP:0003202	Skeletal muscle atrophy	8884	SLC5A6	OMIM:619903
HP:0003202	Skeletal muscle atrophy	26092	TOR1AIP1	OMIM:617072
HP:0003202	Skeletal muscle atrophy	340075	ARSI	ORPHA:401815
HP:0003202	Skeletal muscle atrophy	340533	NEXMIF	OMIM:300912
HP:0003202	Skeletal muscle atrophy	9420	CYP7B1	ORPHA:100986
HP:0003202	Skeletal muscle atrophy	9420	CYP7B1	OMIM:270800
HP:0003202	Skeletal muscle atrophy	81545	FBXO38	OMIM:615575
HP:0003202	Skeletal muscle atrophy	9255	AIMP1	OMIM:260600
HP:0003202	Skeletal muscle atrophy	7994	KAT6A	OMIM:616268
HP:0003202	Skeletal muscle atrophy	64856	VWA1	OMIM:619216
HP:0003202	Skeletal muscle atrophy	10229	COQ7	OMIM:620402
HP:0003202	Skeletal muscle atrophy	6253	RTN2	ORPHA:100993
HP:0003202	Skeletal muscle atrophy	51271	UBAP1	ORPHA:100993
HP:0003202	Skeletal muscle atrophy	8566	PDXK	OMIM:618511
HP:0003202	Skeletal muscle atrophy	10667	FARS2	OMIM:617046
HP:0003202	Skeletal muscle atrophy	10667	FARS2	ORPHA:466722
HP:0003202	Skeletal muscle atrophy	84668	HYCC1	OMIM:610532
HP:0003202	Skeletal muscle atrophy	128486	FITM2	OMIM:618635
HP:0003202	Skeletal muscle atrophy	3156	HMGCR	OMIM:620375
HP:0003202	Skeletal muscle atrophy	1778	DYNC1H1	OMIM:158600
HP:0003202	Skeletal muscle atrophy	3300	DNAJB2	OMIM:614881
HP:0003202	Skeletal muscle atrophy	51305	KCNK9	ORPHA:166108
HP:0003202	Skeletal muscle atrophy	7528	YY1	ORPHA:506358
HP:0003202	Skeletal muscle atrophy	8450	CUL4B	OMIM:300354
HP:0003202	Skeletal muscle atrophy	4099	MAG	OMIM:616680
HP:0003202	Skeletal muscle atrophy	4099	MAG	ORPHA:459056
HP:0003202	Skeletal muscle atrophy	391356	PTRHD1	OMIM:620747
HP:0003202	Skeletal muscle atrophy	5165	PDK3	OMIM:300905
HP:0003202	Skeletal muscle atrophy	5165	PDK3	ORPHA:352675
HP:0003202	Skeletal muscle atrophy	8242	KDM5C	OMIM:300534
HP:0003202	Skeletal muscle atrophy	8557	TCAP	OMIM:601954
HP:0003202	Skeletal muscle atrophy	3852	KRT5	ORPHA:79396
HP:0003202	Skeletal muscle atrophy	3861	KRT14	ORPHA:79396
HP:0003202	Skeletal muscle atrophy	121512	FGD4	OMIM:609311
HP:0003202	Skeletal muscle atrophy	2992	GYG1	OMIM:616199
HP:0003202	Skeletal muscle atrophy	79903	NAA60	OMIM:620786
HP:0003202	Skeletal muscle atrophy	55768	NGLY1	OMIM:615273
HP:0003202	Skeletal muscle atrophy	23321	TRIM2	OMIM:615490
HP:0003202	Skeletal muscle atrophy	182	JAG1	OMIM:619574
HP:0003202	Skeletal muscle atrophy	859	CAV3	OMIM:614321
HP:0003202	Skeletal muscle atrophy	859	CAV3	ORPHA:488650
HP:0003202	Skeletal muscle atrophy	374969	SVBP	OMIM:618569
HP:0003202	Skeletal muscle atrophy	1678	TIMM8A	OMIM:304700
HP:0003202	Skeletal muscle atrophy	55958	KLHL9	ORPHA:399081
HP:0003202	Skeletal muscle atrophy	11155	LDB3	ORPHA:98912
HP:0003202	Skeletal muscle atrophy	9897	WASHC5	ORPHA:100989
HP:0003202	Skeletal muscle atrophy	3708	ITPR1	OMIM:117360
HP:0003202	Skeletal muscle atrophy	1674	DES	OMIM:181400
HP:0003202	Skeletal muscle atrophy	80324	PUS1	OMIM:600462
HP:0003202	Skeletal muscle atrophy	80324	PUS1	ORPHA:2598
HP:0003202	Skeletal muscle atrophy	833	CARS1	OMIM:618891
HP:0003202	Skeletal muscle atrophy	29925	GMPPB	OMIM:615351
HP:0003202	Skeletal muscle atrophy	57104	PNPLA2	ORPHA:98908
HP:0003202	Skeletal muscle atrophy	84466	MEGF10	OMIM:620249
HP:0003202	Skeletal muscle atrophy	3798	KIF5A	ORPHA:100991
HP:0003202	Skeletal muscle atrophy	3315	HSPB1	OMIM:606595
HP:0003202	Skeletal muscle atrophy	3315	HSPB1	ORPHA:99940
HP:0003202	Skeletal muscle atrophy	5077	PAX3	OMIM:148820
HP:0003202	Skeletal muscle atrophy	284058	KANSL1	ORPHA:363965
HP:0003202	Skeletal muscle atrophy	284058	KANSL1	ORPHA:363958
HP:0003202	Skeletal muscle atrophy	170689	ADAMTS15	OMIM:620545
HP:0003202	Skeletal muscle atrophy	2395	FXN	ORPHA:95
HP:0006956	Lateral ventricle dilatation	81555	YIPF5	OMIM:619278
HP:0006956	Lateral ventricle dilatation	10466	COG5	ORPHA:263487
HP:0006956	Lateral ventricle dilatation	10159	ATP6AP2	ORPHA:363654
HP:0006956	Lateral ventricle dilatation	4750	NEK1	OMIM:263520
HP:0006956	Lateral ventricle dilatation	100151683	RNU4ATAC	OMIM:210710
HP:0006956	Lateral ventricle dilatation	23394	ADNP	OMIM:615873
HP:0006956	Lateral ventricle dilatation	7355	SLC35A2	ORPHA:356961
HP:0006956	Lateral ventricle dilatation	7355	SLC35A2	OMIM:300896
HP:0006956	Lateral ventricle dilatation	7545	ZIC1	OMIM:616602
HP:0006956	Lateral ventricle dilatation	7545	ZIC1	OMIM:618736
HP:0006956	Lateral ventricle dilatation	253738	EBF3	ORPHA:96148
HP:0006956	Lateral ventricle dilatation	79848	CSPP1	ORPHA:397715
HP:0006956	Lateral ventricle dilatation	9786	KIAA0586	ORPHA:397715
HP:0006956	Lateral ventricle dilatation	80816	ASXL3	OMIM:615485
HP:0006956	Lateral ventricle dilatation	387787	LIPT2	OMIM:617668
HP:0006956	Lateral ventricle dilatation	1841	DTYMK	OMIM:619847
HP:0006956	Lateral ventricle dilatation	23291	FBXW11	OMIM:618914
HP:0006956	Lateral ventricle dilatation	4953	ODC1	ORPHA:544488
HP:0006956	Lateral ventricle dilatation	57505	AARS2	OMIM:615889
HP:0006956	Lateral ventricle dilatation	8893	EIF2B5	OMIM:620315
HP:0006956	Lateral ventricle dilatation	24142	NAA80	OMIM:620830
HP:0006956	Lateral ventricle dilatation	9382	COG1	OMIM:611209
HP:0006956	Lateral ventricle dilatation	90161	HS6ST2	OMIM:301025
HP:0006956	Lateral ventricle dilatation	57551	TAOK1	OMIM:619575
HP:0006956	Lateral ventricle dilatation	84340	GFM2	ORPHA:565624
HP:0006956	Lateral ventricle dilatation	129685	TAF8	OMIM:619972
HP:0006956	Lateral ventricle dilatation	10588	MTHFS	OMIM:618367
HP:0006956	Lateral ventricle dilatation	347733	TUBB2B	ORPHA:300573
HP:0006956	Lateral ventricle dilatation	11274	USP18	OMIM:617397
HP:0006956	Lateral ventricle dilatation	7528	YY1	OMIM:617557
HP:0006956	Lateral ventricle dilatation	10381	TUBB3	ORPHA:300570
HP:0006956	Lateral ventricle dilatation	81857	MED25	ORPHA:464738
HP:0006956	Lateral ventricle dilatation	8792	TNFRSF11A	OMIM:612301
HP:0006956	Lateral ventricle dilatation	9361	LONP1	ORPHA:79243
HP:0006956	Lateral ventricle dilatation	5160	PDHA1	ORPHA:79243
HP:0006956	Lateral ventricle dilatation	83480	PUS3	ORPHA:488627
HP:0006956	Lateral ventricle dilatation	54806	AHI1	OMIM:608629
HP:0006956	Lateral ventricle dilatation	80311	KLHL15	OMIM:300982
HP:0006956	Lateral ventricle dilatation	29968	PSAT1	ORPHA:284417
HP:0006956	Lateral ventricle dilatation	9839	ZEB2	ORPHA:261552
HP:0006956	Lateral ventricle dilatation	9839	ZEB2	ORPHA:261537
HP:0006956	Lateral ventricle dilatation	2009	EML1	OMIM:600348
HP:0006956	Lateral ventricle dilatation	25930	PTPN23	OMIM:618890
HP:0006956	Lateral ventricle dilatation	5277	PIGA	OMIM:300868
HP:0006956	Lateral ventricle dilatation	8550	MAPKAPK5	OMIM:619869
HP:0006956	Lateral ventricle dilatation	80208	SPG11	ORPHA:2822
HP:0006956	Lateral ventricle dilatation	1641	DCX	ORPHA:2148
HP:0006956	Lateral ventricle dilatation	10352	WARS2	ORPHA:572798
HP:0006956	Lateral ventricle dilatation	23230	VPS13A	ORPHA:2388
HP:0006956	Lateral ventricle dilatation	23230	VPS13A	OMIM:200150
HP:0006956	Lateral ventricle dilatation	200734	SPRED2	OMIM:619745
HP:0006956	Lateral ventricle dilatation	2752	GLUL	OMIM:610015
HP:0006956	Lateral ventricle dilatation	6304	SATB1	OMIM:619229
HP:0006956	Lateral ventricle dilatation	6638	SNRPN	ORPHA:177907
HP:0006956	Lateral ventricle dilatation	57572	DOCK6	OMIM:614219
HP:0006956	Lateral ventricle dilatation	80347	COASY	OMIM:618266
HP:0006956	Lateral ventricle dilatation	57498	KIDINS220	OMIM:617296
HP:0006956	Lateral ventricle dilatation	56006	SMG9	OMIM:619995
HP:0006956	Lateral ventricle dilatation	9851	KIAA0753	OMIM:619479
HP:0006956	Lateral ventricle dilatation	54539	NDUFB11	OMIM:300952
HP:0006956	Lateral ventricle dilatation	1182	CLCN3	OMIM:619517
HP:0006956	Lateral ventricle dilatation	1213	CLTC	OMIM:617854
HP:0006956	Lateral ventricle dilatation	4329	ALDH6A1	OMIM:614105
HP:0006956	Lateral ventricle dilatation	4784	NFIX	ORPHA:420179
HP:0006956	Lateral ventricle dilatation	93210	PGAP3	OMIM:615716
HP:0006956	Lateral ventricle dilatation	2896	GRN	OMIM:607485
HP:0006956	Lateral ventricle dilatation	85365	ALG2	ORPHA:79326
HP:0006956	Lateral ventricle dilatation	26576	SRPK3	OMIM:301134
HP:0006956	Lateral ventricle dilatation	284252	KCTD1	OMIM:181270
HP:0006956	Lateral ventricle dilatation	728294	D2HGDH	OMIM:600721
HP:0006956	Lateral ventricle dilatation	100147744	RNU7-1	OMIM:619487
HP:0006956	Lateral ventricle dilatation	91875	TTC5	OMIM:619244
HP:0006956	Lateral ventricle dilatation	7443	VRK1	OMIM:607596
HP:0006956	Lateral ventricle dilatation	51244	CCDC174	OMIM:616816
HP:0006956	Lateral ventricle dilatation	10430	TMEM147	OMIM:620075
HP:0006956	Lateral ventricle dilatation	259266	ASPM	OMIM:608716
HP:0006956	Lateral ventricle dilatation	79989	IFT56	OMIM:619534
HP:0006956	Lateral ventricle dilatation	5879	RAC1	OMIM:617751
HP:0006956	Lateral ventricle dilatation	5528	PPP2R5D	ORPHA:457279
HP:0006956	Lateral ventricle dilatation	6651	SON	ORPHA:500150
HP:0006956	Lateral ventricle dilatation	9215	LARGE1	OMIM:613154
HP:0006956	Lateral ventricle dilatation	738	VPS51	OMIM:618606
HP:0006956	Lateral ventricle dilatation	2146	EZH2	OMIM:277590
HP:0006956	Lateral ventricle dilatation	4087	SMAD2	OMIM:619657
HP:0006956	Lateral ventricle dilatation	8139	GAN	OMIM:256850
HP:0006956	Lateral ventricle dilatation	2639	GCDH	OMIM:231670
HP:0006956	Lateral ventricle dilatation	23299	BICD2	OMIM:618291
HP:0006956	Lateral ventricle dilatation	7546	ZIC2	OMIM:609637
HP:0006956	Lateral ventricle dilatation	7305	TYROBP	OMIM:221770
HP:0006956	Lateral ventricle dilatation	1523	CUX1	OMIM:618330
HP:0006956	Lateral ventricle dilatation	3763	KCNJ6	OMIM:614098
HP:0006956	Lateral ventricle dilatation	22930	RAB3GAP1	OMIM:619420
HP:0006956	Lateral ventricle dilatation	4208	MEF2C	OMIM:613443
HP:0006956	Lateral ventricle dilatation	2902	GRIN1	ORPHA:208447
HP:0006956	Lateral ventricle dilatation	90952	ESAM	OMIM:620371
HP:0006956	Lateral ventricle dilatation	8085	KMT2D	OMIM:147920
HP:0006956	Lateral ventricle dilatation	7403	KDM6A	OMIM:147920
HP:0012470	Setting-sun eye phenomenon	51241	COX16	OMIM:619355
HP:0012471	Thick vermilion border	5979	RET	OMIM:162300
HP:0012471	Thick vermilion border	7528	YY1	ORPHA:506358
HP:0012471	Thick vermilion border	7528	YY1	OMIM:617557
HP:0012471	Thick vermilion border	8450	CUL4B	OMIM:300354
HP:0012471	Thick vermilion border	8450	CUL4B	ORPHA:85293
HP:0012471	Thick vermilion border	23394	ADNP	ORPHA:404448
HP:0012471	Thick vermilion border	23394	ADNP	OMIM:615873
HP:0012471	Thick vermilion border	27316	RBMX	OMIM:300238
HP:0012471	Thick vermilion border	9759	HDAC4	OMIM:619797
HP:0012471	Thick vermilion border	6228	RPS23	OMIM:617412
HP:0012471	Thick vermilion border	84282	RNF135	ORPHA:137634
HP:0012471	Thick vermilion border	5457	POU4F1	ORPHA:314647
HP:0012471	Thick vermilion border	23261	CAMTA1	ORPHA:314647
HP:0012471	Thick vermilion border	23261	CAMTA1	OMIM:614756
HP:0012471	Thick vermilion border	5745	PTH1R	OMIM:600002
HP:0012471	Thick vermilion border	57465	TBC1D24	OMIM:220500
HP:0012471	Thick vermilion border	57465	TBC1D24	ORPHA:79500
HP:0012471	Thick vermilion border	57520	HECW2	OMIM:617268
HP:0012471	Thick vermilion border	79639	TMEM53	OMIM:619727
HP:0012471	Thick vermilion border	4758	NEU1	ORPHA:812
HP:0012471	Thick vermilion border	6197	RPS6KA3	OMIM:303600
HP:0012471	Thick vermilion border	6197	RPS6KA3	ORPHA:192
HP:0012471	Thick vermilion border	6197	RPS6KA3	OMIM:300844
HP:0012471	Thick vermilion border	1301	COL11A1	OMIM:154780
HP:0012471	Thick vermilion border	1301	COL11A1	ORPHA:560
HP:0012471	Thick vermilion border	23221	RHOBTB2	OMIM:618004
HP:0012471	Thick vermilion border	57492	ARID1B	OMIM:135900
HP:0012471	Thick vermilion border	57492	ARID1B	ORPHA:1465
HP:0012471	Thick vermilion border	24140	FTSJ1	OMIM:309549
HP:0012471	Thick vermilion border	6601	SMARCC2	OMIM:618362
HP:0012471	Thick vermilion border	6601	SMARCC2	ORPHA:1465
HP:0012471	Thick vermilion border	4052	LTBP1	OMIM:619451
HP:0012471	Thick vermilion border	3899	AFF3	OMIM:619297
HP:0012471	Thick vermilion border	6597	SMARCA4	ORPHA:1465
HP:0012471	Thick vermilion border	6597	SMARCA4	OMIM:614609
HP:0012471	Thick vermilion border	5977	DPF2	ORPHA:1465
HP:0012471	Thick vermilion border	5977	DPF2	OMIM:618027
HP:0012471	Thick vermilion border	6602	SMARCD1	ORPHA:1465
HP:0012471	Thick vermilion border	196528	ARID2	ORPHA:1465
HP:0012471	Thick vermilion border	6605	SMARCE1	ORPHA:1465
HP:0012471	Thick vermilion border	6605	SMARCE1	OMIM:616938
HP:0012471	Thick vermilion border	2770	GNAI1	OMIM:619854
HP:0012471	Thick vermilion border	9820	CUL7	OMIM:273750
HP:0012471	Thick vermilion border	2200	FBN1	ORPHA:969
HP:0012471	Thick vermilion border	2200	FBN1	OMIM:102370
HP:0012471	Thick vermilion border	2717	GLA	ORPHA:324
HP:0012471	Thick vermilion border	1009	CDH11	OMIM:211380
HP:0012471	Thick vermilion border	3265	HRAS	ORPHA:3071
HP:0012471	Thick vermilion border	3265	HRAS	OMIM:218040
HP:0012471	Thick vermilion border	25942	SIN3A	ORPHA:94065
HP:0012471	Thick vermilion border	25942	SIN3A	OMIM:613406
HP:0012471	Thick vermilion border	9839	ZEB2	ORPHA:261552
HP:0012471	Thick vermilion border	9839	ZEB2	ORPHA:261537
HP:0012471	Thick vermilion border	10524	KAT5	OMIM:619103
HP:0012471	Thick vermilion border	8036	SHOC2	ORPHA:2701
HP:0012471	Thick vermilion border	5500	PPP1CB	ORPHA:2701
HP:0012471	Thick vermilion border	3782	KCNN3	OMIM:618658
HP:0012471	Thick vermilion border	10522	DEAF1	OMIM:615828
HP:0012471	Thick vermilion border	760	CA2	ORPHA:2785
HP:0012471	Thick vermilion border	26227	PHGDH	OMIM:256520
HP:0012471	Thick vermilion border	6611	SMS	ORPHA:3063
HP:0012471	Thick vermilion border	6611	SMS	OMIM:309583
HP:0012471	Thick vermilion border	253738	EBF3	OMIM:617330
HP:0012471	Thick vermilion border	56006	SMG9	OMIM:616920
HP:0012471	Thick vermilion border	2517	FUCA1	OMIM:230000
HP:0012471	Thick vermilion border	1859	DYRK1A	OMIM:614104
HP:0012471	Thick vermilion border	6804	STX1A	ORPHA:904
HP:0012471	Thick vermilion border	7461	CLIP2	ORPHA:904
HP:0012471	Thick vermilion border	84277	DNAJC30	ORPHA:904
HP:0012471	Thick vermilion border	8468	FKBP6	ORPHA:904
HP:0012471	Thick vermilion border	5982	RFC2	ORPHA:904
HP:0012471	Thick vermilion border	2969	GTF2I	ORPHA:904
HP:0012471	Thick vermilion border	3984	LIMK1	ORPHA:904
HP:0012471	Thick vermilion border	9569	GTF2IRD1	ORPHA:904
HP:0012471	Thick vermilion border	155382	VPS37D	ORPHA:904
HP:0012471	Thick vermilion border	155368	METTL27	ORPHA:904
HP:0012471	Thick vermilion border	114049	BUD23	ORPHA:904
HP:0012471	Thick vermilion border	7458	EIF4H	ORPHA:904
HP:0012471	Thick vermilion border	84163	GTF2IRD2	ORPHA:904
HP:0012471	Thick vermilion border	26608	TBL2	ORPHA:904
HP:0012471	Thick vermilion border	653361	NCF1	ORPHA:904
HP:0012471	Thick vermilion border	135886	TMEM270	ORPHA:904
HP:0012471	Thick vermilion border	9031	BAZ1B	ORPHA:904
HP:0012471	Thick vermilion border	2006	ELN	ORPHA:904
HP:0012471	Thick vermilion border	2006	ELN	OMIM:194050
HP:0012471	Thick vermilion border	23137	SMC5	OMIM:620185
HP:0012471	Thick vermilion border	2736	GLI2	OMIM:610829
HP:0012471	Thick vermilion border	26137	ZBTB20	OMIM:259050
HP:0012471	Thick vermilion border	79813	EHMT1	ORPHA:261652
HP:0012471	Thick vermilion border	58508	KMT2C	ORPHA:261652
HP:0012471	Thick vermilion border	55617	TASP1	OMIM:618950
HP:0012471	Thick vermilion border	23067	SETD1B	OMIM:619000
HP:0012471	Thick vermilion border	7358	UGDH	OMIM:618792
HP:0012471	Thick vermilion border	92335	STRADA	OMIM:611087
HP:0012471	Thick vermilion border	51085	MLXIPL	OMIM:194050
HP:0012471	Thick vermilion border	55691	FRMD4A	ORPHA:466688
HP:0012471	Thick vermilion border	10430	TMEM147	OMIM:620075
HP:0012471	Thick vermilion border	139285	AMER1	OMIM:300373
HP:0012471	Thick vermilion border	1893	ECM1	ORPHA:530
HP:0012471	Thick vermilion border	22800	RRAS2	ORPHA:648
HP:0012471	Thick vermilion border	8216	LZTR1	ORPHA:648
HP:0012471	Thick vermilion border	6016	RIT1	ORPHA:648
HP:0012471	Thick vermilion border	6237	RRAS	ORPHA:648
HP:0012471	Thick vermilion border	3845	KRAS	ORPHA:648
HP:0012471	Thick vermilion border	4893	NRAS	ORPHA:648
HP:0012471	Thick vermilion border	6655	SOS2	ORPHA:648
HP:0012471	Thick vermilion border	5781	PTPN11	ORPHA:648
HP:0012471	Thick vermilion border	5922	RASA2	ORPHA:648
HP:0012471	Thick vermilion border	6513	SLC2A1	ORPHA:1942
HP:0012471	Thick vermilion border	8831	SYNGAP1	ORPHA:1942
HP:0012471	Thick vermilion border	1173	AP2M1	ORPHA:1942
HP:0012471	Thick vermilion border	6323	SCN1A	ORPHA:1942
HP:0012471	Thick vermilion border	340533	NEXMIF	ORPHA:1942
HP:0012471	Thick vermilion border	1106	CHD2	ORPHA:1942
HP:0012471	Thick vermilion border	6529	SLC6A1	ORPHA:1942
HP:0012471	Thick vermilion border	6595	SMARCA2	OMIM:601358
HP:0012471	Thick vermilion border	27077	B9D1	OMIM:617120
HP:0012471	Thick vermilion border	55331	ACER3	OMIM:617762
HP:0012471	Thick vermilion border	2703	GJA8	OMIM:612474
HP:0012471	Thick vermilion border	2702	GJA5	OMIM:612474
HP:0012471	Thick vermilion border	5696	PSMB8	OMIM:256040
HP:0012471	Thick vermilion border	8085	KMT2D	OMIM:147920
HP:0012471	Thick vermilion border	7403	KDM6A	OMIM:147920
HP:0012471	Thick vermilion border	10075	HUWE1	OMIM:309590
HP:0012471	Thick vermilion border	54888	NSUN2	OMIM:611091
HP:0012471	Thick vermilion border	324	APC	ORPHA:261584
HP:0012471	Thick vermilion border	8260	NAA10	OMIM:300855
HP:0012471	Thick vermilion border	5063	PAK3	OMIM:300558
HP:0012471	Thick vermilion border	79029	AFG2B	OMIM:619616
HP:0012471	Thick vermilion border	117581	TWIST2	OMIM:227260
HP:0012471	Thick vermilion border	738	VPS51	OMIM:618606
HP:0012471	Thick vermilion border	51126	NAA20	OMIM:619717
HP:0012471	Thick vermilion border	6201	RPS7	OMIM:612563
HP:0012471	Thick vermilion border	114034	TOE1	OMIM:614969
HP:0012471	Thick vermilion border	114034	TOE1	ORPHA:284339
HP:0012471	Thick vermilion border	9241	NOG	OMIM:186500
HP:0012471	Thick vermilion border	79228	THOC6	ORPHA:363444
HP:0012471	Thick vermilion border	9562	MINPP1	ORPHA:284339
HP:0012471	Thick vermilion border	23258	DENND5A	OMIM:617281
HP:0012471	Thick vermilion border	8621	CDK13	OMIM:617360
HP:0012471	Thick vermilion border	672	BRCA1	OMIM:617883
HP:0012471	Thick vermilion border	1855	DVL1	OMIM:616331
HP:0012471	Thick vermilion border	23030	KDM4B	OMIM:619320
HP:0012471	Thick vermilion border	22858	CILK1	OMIM:612651
HP:0012471	Thick vermilion border	6309	SC5D	OMIM:607330
HP:0012471	Thick vermilion border	11113	CIT	OMIM:617090
HP:0012471	Thick vermilion border	11253	MAN1B1	ORPHA:397941
HP:0012471	Thick vermilion border	54084	TSPEAR	OMIM:618180
HP:0012471	Thick vermilion border	8367	H4C5	OMIM:619950
HP:0012471	Thick vermilion border	8506	CNTNAP1	OMIM:618186
HP:0012471	Thick vermilion border	26128	KIFBP	OMIM:609460
HP:0012471	Thick vermilion border	23135	KDM6B	OMIM:618505
HP:0012471	Thick vermilion border	6659	SOX4	OMIM:618506
HP:0012471	Thick vermilion border	673	BRAF	OMIM:115150
HP:0012471	Thick vermilion border	673	BRAF	OMIM:613706
HP:0012471	Thick vermilion border	5894	RAF1	OMIM:611553
HP:0012471	Thick vermilion border	2316	FLNA	OMIM:314400
HP:0012471	Thick vermilion border	2316	FLNA	OMIM:300244
HP:0012471	Thick vermilion border	4784	NFIX	ORPHA:447980
HP:0012471	Thick vermilion border	374654	KIF7	OMIM:200990
HP:0012471	Thick vermilion border	65082	VPS33A	OMIM:617303
HP:0012471	Thick vermilion border	65082	VPS33A	ORPHA:505248
HP:0012471	Thick vermilion border	526	ATP6V1B2	OMIM:616455
HP:0012471	Thick vermilion border	55780	ERMARD	ORPHA:75857
HP:0012471	Thick vermilion border	3764	KCNJ8	ORPHA:1517
HP:0012471	Thick vermilion border	10060	ABCC9	ORPHA:1517
HP:0012471	Thick vermilion border	57231	SNX14	ORPHA:397709
HP:0012471	Thick vermilion border	57231	SNX14	OMIM:616354
HP:0012471	Thick vermilion border	1896	EDA	OMIM:305100
HP:0012471	Thick vermilion border	56992	KIF15	ORPHA:261323
HP:0012471	Thick vermilion border	2590	GALNT2	OMIM:618885
HP:0012471	Thick vermilion border	54453	RIN2	OMIM:613075
HP:0012471	Thick vermilion border	80204	FBXO11	OMIM:618089
HP:0012471	Thick vermilion border	7021	TFAP2B	ORPHA:46627
HP:0012471	Thick vermilion border	3423	IDS	ORPHA:217085
HP:0012471	Thick vermilion border	3423	IDS	ORPHA:217093
HP:0012471	Thick vermilion border	9968	MED12	ORPHA:93932
HP:0012471	Thick vermilion border	93627	TBCK	OMIM:616900
HP:0012471	Thick vermilion border	8289	ARID1A	OMIM:614607
HP:0012471	Thick vermilion border	83550	GPR101	ORPHA:963
HP:0012471	Thick vermilion border	9049	AIP	ORPHA:963
HP:0012471	Thick vermilion border	6598	SMARCB1	OMIM:614608
HP:0012471	Thick vermilion border	157680	VPS13B	OMIM:216550
HP:0012471	Thick vermilion border	222663	SCUBE3	OMIM:619184
HP:0012471	Thick vermilion border	22872	SEC31A	OMIM:618651
HP:0012471	Thick vermilion border	4763	NF1	ORPHA:363700
HP:0012471	Thick vermilion border	4763	NF1	OMIM:601321
HP:0012471	Thick vermilion border	4174	MCM5	OMIM:617564
HP:0012471	Thick vermilion border	267010	RNU12	ORPHA:85199
HP:0012471	Thick vermilion border	4338	MOCS2	OMIM:252160
HP:0012471	Thick vermilion border	200734	SPRED2	OMIM:619745
HP:0012471	Thick vermilion border	11193	WBP4	OMIM:620852
HP:0012471	Thick vermilion border	79158	GNPTAB	OMIM:252600
HP:0012471	Thick vermilion border	3425	IDUA	OMIM:607014
HP:0012471	Thick vermilion border	3425	IDUA	OMIM:607015
HP:0012471	Thick vermilion border	3425	IDUA	ORPHA:93474
HP:0012471	Thick vermilion border	3425	IDUA	ORPHA:93473
HP:0012471	Thick vermilion border	175	AGA	ORPHA:93
HP:0012471	Thick vermilion border	9487	PIGL	ORPHA:3474
HP:0012471	Thick vermilion border	9487	PIGL	OMIM:280000
HP:0012471	Thick vermilion border	26834	RNU4-2	OMIM:620851
HP:0012471	Thick vermilion border	54345	SOX18	OMIM:137940
HP:0012471	Thick vermilion border	11154	AP4S1	OMIM:614067
HP:0012471	Thick vermilion border	26053	AUTS2	OMIM:615834
HP:0012471	Thick vermilion border	8239	USP9X	ORPHA:480880
HP:0012471	Thick vermilion border	54828	BCAS3	OMIM:619641
HP:0012471	Thick vermilion border	7750	ZMYM2	OMIM:619522
HP:0012471	Thick vermilion border	27086	FOXP1	ORPHA:391372
HP:0012471	Thick vermilion border	56098	PCDHGC4	OMIM:619880
HP:0012471	Thick vermilion border	51098	IFT52	OMIM:617102
HP:0012471	Thick vermilion border	9158	FIBP	OMIM:617107
HP:0012471	Thick vermilion border	9158	FIBP	ORPHA:500095
HP:0012471	Thick vermilion border	388015	RTL1	ORPHA:96334
HP:0012471	Thick vermilion border	8788	DLK1	ORPHA:96334
HP:0012471	Thick vermilion border	55384	MEG3	ORPHA:96334
HP:0012471	Thick vermilion border	57724	EPG5	OMIM:242840
HP:0012471	Thick vermilion border	7030	TFE3	OMIM:301066
HP:0012471	Thick vermilion border	7355	SLC35A2	OMIM:300896
HP:0012471	Thick vermilion border	26047	CNTNAP2	OMIM:610042
HP:0012471	Thick vermilion border	10735	STAG2	ORPHA:521258
HP:0012471	Thick vermilion border	84168	ANTXR1	OMIM:230740
HP:0012471	Thick vermilion border	51574	LARP7	ORPHA:319671
HP:0012471	Thick vermilion border	51574	LARP7	OMIM:615071
HP:0012471	Thick vermilion border	79791	FBXO31	OMIM:615979
HP:0012471	Thick vermilion border	85440	DOCK7	OMIM:615859
HP:0012471	Thick vermilion border	85440	DOCK7	ORPHA:411986
HP:0012471	Thick vermilion border	3756	KCNH1	OMIM:611816
HP:0012471	Thick vermilion border	3756	KCNH1	OMIM:135500
HP:0012471	Thick vermilion border	3756	KCNH1	ORPHA:420561
HP:0012471	Thick vermilion border	867	CBL	OMIM:613563
HP:0012471	Thick vermilion border	51013	EXOSC1	OMIM:619304
HP:0012471	Thick vermilion border	51053	GMNN	OMIM:616835
HP:0012471	Thick vermilion border	51053	GMNN	ORPHA:2554
HP:0012471	Thick vermilion border	2719	GPC3	OMIM:312870
HP:0012471	Thick vermilion border	2239	GPC4	OMIM:312870
HP:0012471	Thick vermilion border	6664	SOX11	OMIM:615866
HP:0012471	Thick vermilion border	6654	SOS1	OMIM:610733
HP:0012471	Thick vermilion border	8905	AP1S2	OMIM:304340
HP:0012471	Thick vermilion border	3720	JARID2	OMIM:620098
HP:0012471	Thick vermilion border	7189	TRAF6	ORPHA:1810
HP:0012471	Thick vermilion border	128178	EDARADD	ORPHA:1810
HP:0012471	Thick vermilion border	128178	EDARADD	OMIM:224900
HP:0012471	Thick vermilion border	126695	KDF1	ORPHA:1810
HP:0012471	Thick vermilion border	10913	EDAR	ORPHA:1810
HP:0012471	Thick vermilion border	10913	EDAR	OMIM:224900
HP:0012471	Thick vermilion border	4054	LTBP3	OMIM:617809
HP:0012471	Thick vermilion border	91949	COG7	OMIM:608779
HP:0012471	Thick vermilion border	23013	SPEN	OMIM:619312
HP:0012471	Thick vermilion border	56896	DPYSL5	OMIM:619435
HP:0012471	Thick vermilion border	8473	OGT	OMIM:300997
HP:0012471	Thick vermilion border	54517	PUS7	OMIM:618342
HP:0012471	Thick vermilion border	6418	SET	OMIM:618106
HP:0012471	Thick vermilion border	89970	RSPRY1	OMIM:616723
HP:0012471	Thick vermilion border	89970	RSPRY1	ORPHA:457395
HP:0012471	Thick vermilion border	53616	ADAM22	OMIM:617933
HP:0012471	Thick vermilion border	23363	OBSL1	OMIM:612921
HP:0012471	Thick vermilion border	546	ATRX	OMIM:301040
HP:0012471	Thick vermilion border	2334	AFF2	ORPHA:100973
HP:0012471	Thick vermilion border	2334	AFF2	OMIM:309548
HP:0012471	Thick vermilion border	57511	COG6	ORPHA:363523
HP:0012471	Thick vermilion border	100151683	RNU4ATAC	OMIM:226960
HP:0012471	Thick vermilion border	100151683	RNU4ATAC	ORPHA:2636
HP:0012471	Thick vermilion border	113179	ADAT3	ORPHA:363528
HP:0012471	Thick vermilion border	5934	RBL2	OMIM:619690
HP:0012471	Thick vermilion border	83999	KREMEN1	OMIM:617392
HP:0012471	Thick vermilion border	56915	EXOSC5	OMIM:619576
HP:0012471	Thick vermilion border	4998	ORC1	OMIM:224690
HP:0012471	Thick vermilion border	4998	ORC1	ORPHA:2554
HP:0012471	Thick vermilion border	3643	INSR	OMIM:246200
HP:0012471	Thick vermilion border	3643	INSR	ORPHA:508
HP:0012471	Thick vermilion border	5530	PPP3CA	OMIM:617711
HP:0012471	Thick vermilion border	7965	AIMP2	OMIM:618006
HP:0012471	Thick vermilion border	83987	CCDC8	OMIM:614205
HP:0012471	Thick vermilion border	81620	CDT1	ORPHA:2554
HP:0012471	Thick vermilion border	5000	ORC4	ORPHA:2554
HP:0012471	Thick vermilion border	23594	ORC6	ORPHA:2554
HP:0012471	Thick vermilion border	23594	ORC6	OMIM:613803
HP:0012471	Thick vermilion border	8318	CDC45	ORPHA:2554
HP:0012471	Thick vermilion border	990	CDC6	ORPHA:2554
HP:0012471	Thick vermilion border	990	CDC6	OMIM:613805
HP:0012471	Thick vermilion border	6045	RNF2	OMIM:619460
HP:0012471	Thick vermilion border	6792	CDKL5	ORPHA:505652
HP:0012471	Thick vermilion border	9509	ADAMTS2	OMIM:225410
HP:0012471	Thick vermilion border	22808	MRAS	OMIM:618499
HP:0012471	Thick vermilion border	54681	P4HTM	OMIM:618493
HP:0012471	Thick vermilion border	26040	SETBP1	OMIM:616078
HP:0012471	Thick vermilion border	3188	HNRNPH2	OMIM:300986
HP:0012471	Thick vermilion border	51305	KCNK9	ORPHA:166108
HP:0012471	Thick vermilion border	4613	MYCN	OMIM:164280
HP:0012471	Thick vermilion border	79644	SRD5A3	OMIM:612713
HP:0012471	Thick vermilion border	6874	TAF4	OMIM:620450
HP:0012471	Thick vermilion border	57003	CCDC47	OMIM:618268
HP:0012471	Thick vermilion border	2892	GRIA3	ORPHA:364028
HP:0012471	Thick vermilion border	6711	SPTBN1	OMIM:619475
HP:0012471	Thick vermilion border	9791	PTDSS1	ORPHA:2658
HP:0012471	Thick vermilion border	4337	MOCS1	OMIM:252150
HP:0012471	Thick vermilion border	80232	WDR26	OMIM:617616
HP:0012471	Thick vermilion border	285590	SH3PXD2B	ORPHA:137834
HP:0012471	Thick vermilion border	10283	CWC27	OMIM:250410
HP:0012471	Thick vermilion border	6925	TCF4	ORPHA:2896
HP:0012471	Thick vermilion border	23630	KCNE5	ORPHA:86818
HP:0012471	Thick vermilion border	2182	ACSL4	ORPHA:86818
HP:0012471	Thick vermilion border	9949	AMMECR1	ORPHA:86818
HP:0012471	Thick vermilion border	11198	SUPT16H	OMIM:619480
HP:0012471	Thick vermilion border	7204	TRIO	OMIM:617061
HP:0012471	Thick vermilion border	2077	ERF	OMIM:617180
HP:0012471	Thick vermilion border	374879	ZNF699	OMIM:619488
HP:0012471	Thick vermilion border	8567	MADD	OMIM:619005
HP:0012471	Thick vermilion border	29123	ANKRD11	ORPHA:261250
HP:0012471	Thick vermilion border	3832	KIF11	ORPHA:2526
HP:0012471	Thick vermilion border	2890	GRIA1	OMIM:619927
HP:0012471	Thick vermilion border	118924	FRA10AC1	OMIM:620113
HP:0012471	Thick vermilion border	8911	CACNA1I	OMIM:620114
HP:0012471	Thick vermilion border	2799	GNS	OMIM:252940
HP:0012471	Thick vermilion border	2273	FHL1	OMIM:300280
HP:0012471	Thick vermilion border	80267	EDEM3	OMIM:619493
HP:0012471	Thick vermilion border	4841	NONO	ORPHA:466791
HP:0012471	Thick vermilion border	4668	NAGA	ORPHA:79280
HP:0012471	Thick vermilion border	8481	OFD1	OMIM:300804
HP:0012471	Thick vermilion border	54187	NANS	OMIM:610442
HP:0012471	Thick vermilion border	1968	EIF2S3	ORPHA:85282
HP:0012471	Thick vermilion border	5557	PRIM1	OMIM:620005
HP:0012471	Thick vermilion border	64131	XYLT1	ORPHA:370930
HP:0012471	Thick vermilion border	129285	PPP1R21	OMIM:619383
HP:0012471	Thick vermilion border	55181	SMG8	OMIM:619268
HP:0012471	Thick vermilion border	55367	PIDD1	OMIM:619827
HP:0012471	Thick vermilion border	84148	KAT8	OMIM:618974
HP:0012471	Thick vermilion border	283450	HECTD4	OMIM:620250
HP:0012472	Eclabion	3480	IGF1R	ORPHA:73273
HP:0012472	Eclabion	26235	FBXL4	OMIM:615471
HP:0012472	Eclabion	30000	TNPO2	OMIM:619556
HP:0012472	Eclabion	54517	PUS7	OMIM:618342
HP:0012472	Eclabion	23241	PACS2	OMIM:618067
HP:0012472	Eclabion	26128	KIFBP	OMIM:609460
HP:0012472	Eclabion	4204	MECP2	ORPHA:1762
HP:0012472	Eclabion	23394	ADNP	OMIM:615873
HP:0012472	Eclabion	9820	CUL7	ORPHA:2616
HP:0012472	Eclabion	23363	OBSL1	ORPHA:2616
HP:0012472	Eclabion	83987	CCDC8	ORPHA:2616
HP:0012472	Eclabion	57539	WDR35	OMIM:613610
HP:0012472	Eclabion	57539	WDR35	ORPHA:1515
HP:0012472	Eclabion	81857	MED25	OMIM:616449
HP:0012472	Eclabion	81857	MED25	ORPHA:464738
HP:0012472	Eclabion	55624	POMGNT1	OMIM:253280
HP:0012472	Eclabion	55777	MBD5	ORPHA:228402
HP:0012472	Eclabion	55777	MBD5	OMIM:156200
HP:0012472	Eclabion	79813	EHMT1	ORPHA:96147
HP:0012472	Eclabion	79813	EHMT1	OMIM:610253
HP:0012472	Eclabion	84320	ACBD6	OMIM:620785
HP:0012472	Eclabion	2629	GBA1	OMIM:608013
HP:0012472	Eclabion	5308	PITX2	ORPHA:782
HP:0012472	Eclabion	2296	FOXC1	ORPHA:782
HP:0012472	Eclabion	57465	TBC1D24	OMIM:220500
HP:0012472	Eclabion	116931	MED12L	OMIM:618872
HP:0012472	Eclabion	91179	SCARF2	OMIM:600920
HP:0012472	Eclabion	3020	H3-3A	OMIM:619720
HP:0012472	Eclabion	80816	ASXL3	OMIM:615485
HP:0012472	Eclabion	80816	ASXL3	ORPHA:352577
HP:0012472	Eclabion	283489	CHAMP1	OMIM:616579
HP:0012472	Eclabion	23384	SPECC1L	ORPHA:1519
HP:0012472	Eclabion	112752	IFT43	ORPHA:1515
HP:0012472	Eclabion	112752	IFT43	OMIM:614099
HP:0012472	Eclabion	51098	IFT52	ORPHA:1515
HP:0012472	Eclabion	55764	IFT122	ORPHA:1515
HP:0012472	Eclabion	55764	IFT122	OMIM:218330
HP:0012472	Eclabion	57728	WDR19	ORPHA:1515
HP:0012472	Eclabion	4952	OCRL	ORPHA:534
HP:0012472	Eclabion	29957	SLC25A24	ORPHA:2963
HP:0012472	Eclabion	29957	SLC25A24	OMIM:612289
HP:0012472	Eclabion	6197	RPS6KA3	OMIM:303600
HP:0012472	Eclabion	6197	RPS6KA3	ORPHA:276630
HP:0012472	Eclabion	6197	RPS6KA3	ORPHA:192
HP:0012472	Eclabion	6197	RPS6KA3	OMIM:300844
HP:0012472	Eclabion	5980	REV3L	ORPHA:570
HP:0012472	Eclabion	23129	PLXND1	ORPHA:570
HP:0012472	Eclabion	284058	KANSL1	ORPHA:363958
HP:0012472	Eclabion	284058	KANSL1	ORPHA:363965
HP:0012472	Eclabion	284058	KANSL1	OMIM:610443
HP:0012472	Eclabion	10265	IRX5	OMIM:611174
HP:0012472	Eclabion	80204	FBXO11	OMIM:618089
HP:0012472	Eclabion	7021	TFAP2B	ORPHA:46627
HP:0012472	Eclabion	2068	ERCC2	ORPHA:1466
HP:0012472	Eclabion	2067	ERCC1	ORPHA:1466
HP:0012472	Eclabion	2074	ERCC6	ORPHA:1466
HP:0012472	Eclabion	2073	ERCC5	ORPHA:1466
HP:0012472	Eclabion	1009	CDH11	OMIM:619736
HP:0012472	Eclabion	546	ATRX	ORPHA:847
HP:0012472	Eclabion	6792	CDKL5	ORPHA:505652
HP:0012472	Eclabion	23258	DENND5A	OMIM:617281
HP:0012472	Eclabion	9509	ADAMTS2	OMIM:225410
HP:0012472	Eclabion	1193	CLIC2	ORPHA:324410
HP:0012472	Eclabion	4613	MYCN	OMIM:164280
HP:0012472	Eclabion	7020	TFAP2A	ORPHA:1297
HP:0012472	Eclabion	6638	SNRPN	ORPHA:177907
HP:0012472	Eclabion	26834	RNU4-2	OMIM:620851
HP:0012472	Eclabion	4247	MGAT2	OMIM:212066
HP:0012472	Eclabion	6874	TAF4	OMIM:620450
HP:0012472	Eclabion	151516	ASPRV1	ORPHA:313
HP:0012472	Eclabion	242	ALOX12B	ORPHA:313
HP:0012472	Eclabion	242	ALOX12B	OMIM:242100
HP:0012472	Eclabion	126410	CYP4F22	ORPHA:313
HP:0012472	Eclabion	6820	SULT2B1	ORPHA:313
HP:0012472	Eclabion	643418	LIPN	ORPHA:313
HP:0012472	Eclabion	348938	NIPAL4	ORPHA:313
HP:0012472	Eclabion	121214	SDR9C7	ORPHA:313
HP:0012472	Eclabion	79718	TBL1XR1	ORPHA:487825
HP:0012472	Eclabion	79718	TBL1XR1	OMIM:602342
HP:0012472	Eclabion	57167	SALL4	ORPHA:233
HP:0012472	Eclabion	9935	MAFB	ORPHA:233
HP:0012472	Eclabion	1123	CHN1	ORPHA:233
HP:0012472	Eclabion	6611	SMS	ORPHA:3063
HP:0012472	Eclabion	2290	FOXG1	ORPHA:261144
HP:0012472	Eclabion	23126	POGZ	OMIM:616364
HP:0012472	Eclabion	10847	SRCAP	OMIM:619595
HP:0012472	Eclabion	56006	SMG9	OMIM:616920
HP:0012472	Eclabion	1909	EDNRA	OMIM:616367
HP:0012472	Eclabion	6804	STX1A	ORPHA:904
HP:0012472	Eclabion	7461	CLIP2	ORPHA:904
HP:0012472	Eclabion	84277	DNAJC30	ORPHA:904
HP:0012472	Eclabion	8468	FKBP6	ORPHA:904
HP:0012472	Eclabion	5982	RFC2	ORPHA:904
HP:0012472	Eclabion	2969	GTF2I	ORPHA:904
HP:0012472	Eclabion	3984	LIMK1	ORPHA:904
HP:0012472	Eclabion	9569	GTF2IRD1	ORPHA:904
HP:0012472	Eclabion	155382	VPS37D	ORPHA:904
HP:0012472	Eclabion	155368	METTL27	ORPHA:904
HP:0012472	Eclabion	114049	BUD23	ORPHA:904
HP:0012472	Eclabion	7458	EIF4H	ORPHA:904
HP:0012472	Eclabion	84163	GTF2IRD2	ORPHA:904
HP:0012472	Eclabion	26608	TBL2	ORPHA:904
HP:0012472	Eclabion	653361	NCF1	ORPHA:904
HP:0012472	Eclabion	135886	TMEM270	ORPHA:904
HP:0012472	Eclabion	9031	BAZ1B	ORPHA:904
HP:0012472	Eclabion	2006	ELN	ORPHA:904
HP:0012472	Eclabion	85440	DOCK7	ORPHA:411986
HP:0012472	Eclabion	85440	DOCK7	OMIM:615859
HP:0012472	Eclabion	3425	IDUA	ORPHA:93474
HP:0012472	Eclabion	3425	IDUA	ORPHA:93473
HP:0012472	Eclabion	6134	RPL10	ORPHA:459070
HP:0012472	Eclabion	10913	EDAR	OMIM:224900
HP:0012472	Eclabion	6595	SMARCA2	ORPHA:3051
HP:0012472	Eclabion	6595	SMARCA2	OMIM:601358
HP:0012472	Eclabion	4893	NRAS	OMIM:137550
HP:0012472	Eclabion	3265	HRAS	OMIM:137550
HP:0012472	Eclabion	60401	EDA2R	ORPHA:181
HP:0012472	Eclabion	54828	BCAS3	OMIM:619641
HP:0012472	Eclabion	54870	QRICH1	OMIM:617982
HP:0012472	Eclabion	56098	PCDHGC4	OMIM:619880
HP:0012472	Eclabion	53335	BCL11A	OMIM:617101
HP:0012472	Eclabion	57688	ZSWIM6	OMIM:617865
HP:0012472	Eclabion	4190	MDH1	OMIM:618959
HP:0012472	Eclabion	57192	MCOLN1	ORPHA:578
HP:0012472	Eclabion	2273	FHL1	OMIM:300280
HP:0012472	Eclabion	55691	FRMD4A	OMIM:616819
HP:0012472	Eclabion	3756	KCNH1	ORPHA:420561
HP:0012472	Eclabion	10430	TMEM147	OMIM:620075
HP:0012472	Eclabion	5080	PAX6	ORPHA:893
HP:0012472	Eclabion	7490	WT1	ORPHA:893
HP:0012472	Eclabion	627	BDNF	ORPHA:893
HP:0012472	Eclabion	7030	TFE3	OMIM:301066
HP:0012472	Eclabion	79989	IFT56	OMIM:619534
HP:0012472	Eclabion	650	BMP2	OMIM:617877
HP:0012472	Eclabion	9487	PIGL	OMIM:280000
HP:0012472	Eclabion	27316	RBMX	ORPHA:85286
HP:0012472	Eclabion	22930	RAB3GAP1	ORPHA:1387
HP:0012472	Eclabion	25782	RAB3GAP2	ORPHA:1387
HP:0012472	Eclabion	84700	MYO18B	OMIM:616549
HP:0012472	Eclabion	23389	MED13L	OMIM:616789
HP:0012472	Eclabion	138050	HGSNAT	OMIM:252930
HP:0012472	Eclabion	4733	DRG1	OMIM:620641
HP:0012472	Eclabion	3778	KCNMA1	OMIM:618729
HP:0012472	Eclabion	3339	HSPG2	ORPHA:800
HP:0012472	Eclabion	1917	EEF1A2	OMIM:616393
HP:0012472	Eclabion	22907	DHX30	OMIM:617804
HP:0012472	Eclabion	2245	FGD1	ORPHA:915
HP:0012472	Eclabion	84168	ANTXR1	ORPHA:2067
HP:0012472	Eclabion	58508	KMT2C	OMIM:617768
HP:0012472	Eclabion	6664	SOX11	OMIM:615866
HP:0012472	Eclabion	9898	UBAP2L	OMIM:620494
HP:0012472	Eclabion	90952	ESAM	OMIM:620371
HP:0012472	Eclabion	129563	DIS3L2	OMIM:267000
HP:0012472	Eclabion	50801	KCNK4	OMIM:618381
HP:0012472	Eclabion	57724	EPG5	OMIM:242840
HP:0012472	Eclabion	10717	AP4B1	ORPHA:280763
HP:0012472	Eclabion	9179	AP4M1	ORPHA:280763
HP:0012472	Eclabion	11154	AP4S1	ORPHA:280763
HP:0012472	Eclabion	23431	AP4E1	ORPHA:280763
HP:0012472	Eclabion	80232	WDR26	ORPHA:513456
HP:0012472	Eclabion	1387	CREBBP	OMIM:618332
HP:0012472	Eclabion	374654	KIF7	OMIM:200990
HP:0012472	Eclabion	8294	H4C9	OMIM:619951
HP:0012472	Eclabion	10743	RAI1	OMIM:182290
HP:0012472	Eclabion	9739	SETD1A	OMIM:619056
HP:0012472	Eclabion	8260	NAA10	OMIM:300855
HP:0012472	Eclabion	8260	NAA10	ORPHA:276432
HP:0012472	Eclabion	1788	DNMT3A	OMIM:615879
HP:0012472	Eclabion	6929	TCF3	OMIM:619824
HP:0012472	Eclabion	4131	MAP1B	OMIM:618918
HP:0012472	Eclabion	6597	SMARCA4	OMIM:614609
HP:0012472	Eclabion	59344	ALOXE3	OMIM:606545
HP:0012472	Eclabion	4784	NFIX	OMIM:602535
HP:0012472	Eclabion	11253	MAN1B1	ORPHA:397941
HP:0012472	Eclabion	404672	GTF2H5	OMIM:616395
HP:0012472	Eclabion	8367	H4C5	OMIM:619950
HP:0012472	Eclabion	204219	CERS3	OMIM:615023
HP:0012472	Eclabion	54453	RIN2	OMIM:613075
HP:0012472	Eclabion	7051	TGM1	ORPHA:100976
HP:0012472	Eclabion	51099	ABHD5	ORPHA:98907
HP:0012472	Eclabion	51163	DBR1	OMIM:620510
HP:0012472	Eclabion	26154	ABCA12	ORPHA:457
HP:0012472	Eclabion	2260	FGFR1	ORPHA:99798
HP:0012472	Eclabion	4487	MSX1	ORPHA:99798
HP:0012472	Eclabion	128178	EDARADD	ORPHA:99798
HP:0012472	Eclabion	5083	PAX9	ORPHA:99798
HP:0012472	Eclabion	7341	SUMO1	ORPHA:99798
HP:0012472	Eclabion	80326	WNT10A	ORPHA:99798
HP:0012472	Eclabion	1896	EDA	ORPHA:99798
HP:0012472	Eclabion	8313	AXIN2	ORPHA:99798
HP:0012472	Eclabion	3664	IRF6	ORPHA:99798
HP:0012472	Eclabion	4040	LRP6	ORPHA:99798
HP:0012472	Eclabion	7039	TGFA	ORPHA:99798
HP:0012472	Eclabion	7480	WNT10B	ORPHA:99798
HP:0012473	Tongue atrophy	2483	FRG1	OMIM:158900
HP:0012473	Tongue atrophy	80025	PANK2	ORPHA:216873
HP:0012473	Tongue atrophy	8106	PABPN1	ORPHA:270
HP:0012473	Tongue atrophy	339855	KY	OMIM:617114
HP:0012473	Tongue atrophy	339855	KY	ORPHA:496689
HP:0012473	Tongue atrophy	4593	MUSK	OMIM:616325
HP:0012473	Tongue atrophy	10133	OPTN	OMIM:613435
HP:0012473	Tongue atrophy	10133	OPTN	ORPHA:803
HP:0012473	Tongue atrophy	81846	SBF2	ORPHA:99956
HP:0012473	Tongue atrophy	25978	CHMP2B	ORPHA:803
HP:0012473	Tongue atrophy	3178	HNRNPA1	ORPHA:803
HP:0012473	Tongue atrophy	8148	TAF15	ORPHA:803
HP:0012473	Tongue atrophy	5445	PON2	ORPHA:803
HP:0012473	Tongue atrophy	9217	VAPB	ORPHA:803
HP:0012473	Tongue atrophy	8878	SQSTM1	ORPHA:803
HP:0012473	Tongue atrophy	5630	PRPH	ORPHA:803
HP:0012473	Tongue atrophy	29110	TBK1	ORPHA:803
HP:0012473	Tongue atrophy	55830	GLT8D1	ORPHA:803
HP:0012473	Tongue atrophy	755	CFAP410	ORPHA:803
HP:0012473	Tongue atrophy	10891	PPARGC1A	ORPHA:803
HP:0012473	Tongue atrophy	6647	SOD1	ORPHA:803
HP:0012473	Tongue atrophy	1639	DCTN1	ORPHA:803
HP:0012473	Tongue atrophy	9896	FIG4	ORPHA:803
HP:0012473	Tongue atrophy	5444	PON1	ORPHA:803
HP:0012473	Tongue atrophy	5446	PON3	ORPHA:803
HP:0012473	Tongue atrophy	4744	NEFH	ORPHA:803
HP:0012473	Tongue atrophy	5216	PFN1	ORPHA:803
HP:0012473	Tongue atrophy	9782	MATR3	ORPHA:803
HP:0012473	Tongue atrophy	54209	TREM2	ORPHA:803
HP:0012473	Tongue atrophy	7415	VCP	ORPHA:803
HP:0012473	Tongue atrophy	283	ANG	ORPHA:803
HP:0012473	Tongue atrophy	23435	TARDBP	ORPHA:803
HP:0012473	Tongue atrophy	29978	UBQLN2	ORPHA:803
HP:0012473	Tongue atrophy	2733	GLE1	ORPHA:803
HP:0012473	Tongue atrophy	2521	FUS	ORPHA:803
HP:0012473	Tongue atrophy	4750	NEK1	ORPHA:803
HP:0012473	Tongue atrophy	6311	ATXN2	ORPHA:803
HP:0012473	Tongue atrophy	1610	DAO	ORPHA:803
HP:0012473	Tongue atrophy	2066	ERBB4	ORPHA:803
HP:0012473	Tongue atrophy	311	ANXA11	ORPHA:803
HP:0012473	Tongue atrophy	23025	UNC13A	ORPHA:803
HP:0012473	Tongue atrophy	899	CCNF	ORPHA:803
HP:0012473	Tongue atrophy	400916	CHCHD10	ORPHA:803
HP:0012473	Tongue atrophy	10558	SPTLC1	OMIM:620285
HP:0012473	Tongue atrophy	79628	SH3TC2	OMIM:601596
HP:0012473	Tongue atrophy	79628	SH3TC2	ORPHA:99949
HP:0012473	Tongue atrophy	2934	GSN	ORPHA:85448
HP:0012473	Tongue atrophy	9427	ECEL1	OMIM:615065
HP:0012473	Tongue atrophy	3508	IGHMBP2	OMIM:616155
HP:0012473	Tongue atrophy	10528	NOP56	OMIM:614153
HP:0012473	Tongue atrophy	10528	NOP56	ORPHA:276198
HP:0012473	Tongue atrophy	22880	MORC2	ORPHA:466768
HP:0012473	Tongue atrophy	51010	EXOSC3	OMIM:614678
HP:0012473	Tongue atrophy	4747	NEFL	ORPHA:101085
HP:0012473	Tongue atrophy	113278	SLC52A3	OMIM:211530
HP:0012473	Tongue atrophy	285489	DOK7	OMIM:254300
HP:0012474	Carotid artery occlusion	4000	LMNA	ORPHA:740
HP:0012474	Carotid artery occlusion	10269	ZMPSTE24	ORPHA:740
HP:0012475	Decreased circulating level of specific antibody	57511	COG6	OMIM:614576
HP:0012475	Decreased circulating level of specific antibody	355	FAS	ORPHA:3261
HP:0012475	Decreased circulating level of specific antibody	356	FASLG	ORPHA:3261
HP:0012475	Decreased circulating level of specific antibody	843	CASP10	ORPHA:3261
HP:0012475	Decreased circulating level of specific antibody	7454	WAS	OMIM:301000
HP:0012475	Decreased circulating level of specific antibody	84061	MAGT1	OMIM:300853
HP:0012475	Decreased circulating level of specific antibody	3559	IL2RA	OMIM:606367
HP:0012475	Decreased circulating level of specific antibody	100	ADA	OMIM:102700
HP:0012475	Decreased circulating level of specific antibody	56259	CTNNBL1	OMIM:619846
HP:0012475	Decreased circulating level of specific antibody	975	CD81	OMIM:613496
HP:0012475	Decreased circulating level of specific antibody	1503	CTPS1	OMIM:615897
HP:0012475	Decreased circulating level of specific antibody	3604	TNFRSF9	OMIM:620282
HP:0012475	Decreased circulating level of specific antibody	7535	ZAP70	OMIM:617006
HP:0012475	Decreased circulating level of specific antibody	5293	PIK3CD	OMIM:615513
HP:0012475	Decreased circulating level of specific antibody	1380	CR2	OMIM:614699
HP:0012475	Decreased circulating level of specific antibody	868	CBLB	OMIM:620430
HP:0012475	Decreased circulating level of specific antibody	3514	IGKC	ORPHA:183675
HP:0012475	Decreased circulating level of specific antibody	3501	IGHG2	ORPHA:183675
HP:0012475	Decreased circulating level of specific antibody	9138	ARHGEF1	OMIM:618459
HP:0012475	Decreased circulating level of specific antibody	930	CD19	OMIM:613493
HP:0012475	Decreased circulating level of specific antibody	359948	IRF2BP2	OMIM:617765
HP:0012475	Decreased circulating level of specific antibody	987	LRBA	OMIM:614700
HP:0012475	Decreased circulating level of specific antibody	90417	KNSTRN	ORPHA:221139
HP:0012475	Decreased circulating level of specific antibody	146206	CARMIL2	OMIM:618131
HP:0012475	Decreased circulating level of specific antibody	55343	SLC35C1	ORPHA:99843
HP:0012475	Decreased circulating level of specific antibody	10892	MALT1	OMIM:615468
HP:0012475	Decreased circulating level of specific antibody	5580	PRKCD	OMIM:615559
HP:0012475	Decreased circulating level of specific antibody	973	CD79A	OMIM:613501
HP:0012475	Decreased circulating level of specific antibody	11151	CORO1A	OMIM:615401
HP:0012475	Decreased circulating level of specific antibody	919	CD247	OMIM:610163
HP:0012475	Decreased circulating level of specific antibody	5424	POLD1	OMIM:620836
HP:0012475	Decreased circulating level of specific antibody	57379	AICDA	OMIM:605258
HP:0012475	Decreased circulating level of specific antibody	81858	SHARPIN	OMIM:620795
HP:0012475	Decreased circulating level of specific antibody	79087	ALG12	ORPHA:79324
HP:0012475	Decreased circulating level of specific antibody	970	CD70	OMIM:618261
HP:0012475	Decreased circulating level of specific antibody	8737	RIPK1	OMIM:618108
HP:0012475	Decreased circulating level of specific antibody	6929	TCF3	OMIM:619824
HP:0012475	Decreased circulating level of specific antibody	5966	REL	OMIM:619652
HP:0012475	Decreased circulating level of specific antibody	567	B2M	OMIM:241600
HP:0012475	Decreased circulating level of specific antibody	29927	SEC61A1	OMIM:620670
HP:0012475	Decreased circulating level of specific antibody	84433	CARD11	OMIM:616452
HP:0012475	Decreased circulating level of specific antibody	10525	HYOU1	OMIM:233600
HP:0012475	Decreased circulating level of specific antibody	841	CASP8	OMIM:607271
HP:0012475	Decreased circulating level of specific antibody	8517	IKBKG	OMIM:301081
HP:0012475	Decreased circulating level of specific antibody	51135	IRAK4	OMIM:607676
HP:0012475	Decreased circulating level of specific antibody	115650	TNFRSF13C	OMIM:613494
HP:0012475	Decreased circulating level of specific antibody	55072	RNF31	OMIM:620632
HP:0012475	Decreased circulating level of specific antibody	54440	SASH3	OMIM:301082
HP:0012475	Decreased circulating level of specific antibody	29851	ICOS	OMIM:240500
HP:0012475	Decreased circulating level of specific antibody	23495	TNFRSF13B	OMIM:240500
HP:0012475	Decreased circulating level of specific antibody	695	BTK	OMIM:300755
HP:0012475	Decreased circulating level of specific antibody	5880	RAC2	OMIM:618986
HP:0012476	Decreased specific pneumococcal antibody level	975	CD81	OMIM:613496
HP:0012476	Decreased specific pneumococcal antibody level	1503	CTPS1	OMIM:615897
HP:0012476	Decreased specific pneumococcal antibody level	3604	TNFRSF9	OMIM:620282
HP:0012476	Decreased specific pneumococcal antibody level	7535	ZAP70	OMIM:617006
HP:0012476	Decreased specific pneumococcal antibody level	5293	PIK3CD	OMIM:615513
HP:0012476	Decreased specific pneumococcal antibody level	1380	CR2	OMIM:614699
HP:0012476	Decreased specific pneumococcal antibody level	868	CBLB	OMIM:620430
HP:0012476	Decreased specific pneumococcal antibody level	3514	IGKC	ORPHA:183675
HP:0012476	Decreased specific pneumococcal antibody level	3501	IGHG2	ORPHA:183675
HP:0012477	Vocal tremor	100996717	NOTCH2NLC	OMIM:618866
HP:0012477	Vocal tremor	63982	ANO3	ORPHA:420485
HP:0012478	Temporomandibular joint ankylosis	3423	IDS	ORPHA:217085
HP:0012478	Temporomandibular joint ankylosis	3423	IDS	ORPHA:217093
HP:0012478	Temporomandibular joint ankylosis	4000	LMNA	ORPHA:1662
HP:0012478	Temporomandibular joint ankylosis	10269	ZMPSTE24	ORPHA:1662
HP:0012478	Temporomandibular joint ankylosis	10269	ZMPSTE24	OMIM:275210
HP:0012478	Temporomandibular joint ankylosis	5332	PLCB4	OMIM:614669
HP:0012478	Temporomandibular joint ankylosis	10262	SF3B4	OMIM:154400
HP:0012479	Temporomandibular joint crepitus	23230	VPS13A	ORPHA:2388
HP:0011165	Focal sensory seizure with visual features	7957	EPM2A	OMIM:254780
HP:0011165	Focal sensory seizure with visual features	7957	EPM2A	ORPHA:501
HP:0011165	Focal sensory seizure with visual features	6900	CNTN2	OMIM:615400
HP:0011165	Focal sensory seizure with visual features	9211	LGI1	OMIM:600512
HP:0011165	Focal sensory seizure with visual features	5649	RELN	OMIM:600512
HP:0011165	Focal sensory seizure with visual features	64780	MICAL1	OMIM:600512
HP:0011165	Focal sensory seizure with visual features	378884	NHLRC1	ORPHA:501
HP:0007178	Motor polyneuropathy	10342	TFG	ORPHA:431329
HP:0007178	Motor polyneuropathy	210	ALAD	ORPHA:100924
HP:0007178	Motor polyneuropathy	3094	HINT1	ORPHA:324442
HP:0007178	Motor polyneuropathy	23345	SYNE1	ORPHA:88644
HP:0007178	Motor polyneuropathy	5631	PRPS1	ORPHA:411543
HP:0007178	Motor polyneuropathy	4358	MPV17	OMIM:256810
HP:0007178	Motor polyneuropathy	7317	UBA1	ORPHA:1145
HP:0007178	Motor polyneuropathy	51692	CPSF3	OMIM:619876
HP:0007178	Motor polyneuropathy	2617	GARS1	ORPHA:139536
HP:0007178	Motor polyneuropathy	26580	BSCL2	ORPHA:139536
HP:0007178	Motor polyneuropathy	65055	REEP1	ORPHA:139536
HP:0007178	Motor polyneuropathy	9997	SCO2	ORPHA:521411
HP:0007178	Motor polyneuropathy	5832	ALDH18A1	ORPHA:447757
HP:0007178	Motor polyneuropathy	5832	ALDH18A1	OMIM:601162
HP:0007178	Motor polyneuropathy	1130	LYST	ORPHA:167
HP:0007178	Motor polyneuropathy	9150	CTDP1	OMIM:604168
HP:0007178	Motor polyneuropathy	80208	SPG11	ORPHA:2822
HP:0007178	Motor polyneuropathy	80208	SPG11	OMIM:604360
HP:0007178	Motor polyneuropathy	23204	ARL6IP1	OMIM:615685
HP:0007178	Motor polyneuropathy	23204	ARL6IP1	ORPHA:401780
HP:0007178	Motor polyneuropathy	9131	AIFM1	OMIM:300816
HP:0007178	Motor polyneuropathy	60482	SLC5A7	ORPHA:98914
HP:0007178	Motor polyneuropathy	4649	MYO9A	ORPHA:98914
HP:0007178	Motor polyneuropathy	1305	COL13A1	ORPHA:98914
HP:0007178	Motor polyneuropathy	1103	CHAT	ORPHA:98914
HP:0007178	Motor polyneuropathy	6576	SLC25A1	ORPHA:98914
HP:0007178	Motor polyneuropathy	6843	VAMP1	ORPHA:98914
HP:0007178	Motor polyneuropathy	375790	AGRN	ORPHA:98914
HP:0007178	Motor polyneuropathy	127833	SYT2	ORPHA:98914
HP:0007178	Motor polyneuropathy	6572	SLC18A3	ORPHA:98914
HP:0007178	Motor polyneuropathy	6616	SNAP25	ORPHA:98914
HP:0007178	Motor polyneuropathy	1371	CPOX	ORPHA:79273
HP:0007178	Motor polyneuropathy	79158	GNPTAB	OMIM:252600
HP:0007178	Motor polyneuropathy	5498	PPOX	ORPHA:79473
HP:0007178	Motor polyneuropathy	3145	HMBS	ORPHA:79276
HP:0007178	Motor polyneuropathy	59341	TRPV4	OMIM:181405
HP:0007178	Motor polyneuropathy	9990	SLC12A6	OMIM:218000
HP:0007178	Motor polyneuropathy	246243	RNASEH1	OMIM:616479
HP:0007178	Motor polyneuropathy	85465	SELENOI	ORPHA:506353
HP:0007178	Motor polyneuropathy	57165	GJC2	OMIM:608804
HP:0007178	Motor polyneuropathy	4747	NEFL	ORPHA:99939
HP:0007178	Motor polyneuropathy	4747	NEFL	ORPHA:101085
HP:0007178	Motor polyneuropathy	57731	SPTBN4	OMIM:617519
HP:0007179	Absent smooth pursuit	6904	TBCD	ORPHA:496641
HP:0007179	Absent smooth pursuit	6904	TBCD	OMIM:617193
HP:0007179	Absent smooth pursuit	2259	FGF14	OMIM:193003
HP:0007179	Absent smooth pursuit	8818	DPM2	ORPHA:329178
HP:0007179	Absent smooth pursuit	5917	RARS1	OMIM:616140
HP:0007179	Absent smooth pursuit	5917	RARS1	ORPHA:438114
HP:0030059	Mitochondrial depletion	56652	TWNK	OMIM:607459
HP:0030059	Mitochondrial depletion	56652	TWNK	OMIM:609286
HP:0030059	Mitochondrial depletion	92667	MGME1	OMIM:615084
HP:0030059	Mitochondrial depletion	3980	LIG3	OMIM:619780
HP:0030059	Mitochondrial depletion	1763	DNA2	OMIM:615156
HP:0030059	Mitochondrial depletion	50484	RRM2B	OMIM:613077
HP:0030059	Mitochondrial depletion	6240	RRM1	OMIM:620647
HP:0030059	Mitochondrial depletion	1890	TYMP	OMIM:603041
HP:0030059	Mitochondrial depletion	11232	POLG2	OMIM:618528
HP:0030059	Mitochondrial depletion	1716	DGUOK	OMIM:251880
HP:0030059	Mitochondrial depletion	8802	SUCLG1	OMIM:245400
HP:0030059	Mitochondrial depletion	1468	SLC25A10	OMIM:618972
HP:0030059	Mitochondrial depletion	291	SLC25A4	OMIM:617184
HP:0030059	Mitochondrial depletion	7156	TOP3A	OMIM:618097
HP:0030059	Mitochondrial depletion	7084	TK2	OMIM:617069
HP:0030059	Mitochondrial depletion	7084	TK2	OMIM:609560
HP:0030059	Mitochondrial depletion	498	ATP5F1A	OMIM:616045
HP:0030059	Mitochondrial depletion	7019	TFAM	OMIM:617156
HP:0030059	Mitochondrial depletion	5428	POLG	OMIM:613662
HP:0030059	Mitochondrial depletion	4976	OPA1	OMIM:616896
HP:0030059	Mitochondrial depletion	55750	AGK	OMIM:212350
HP:0030059	Mitochondrial depletion	4358	MPV17	OMIM:256810
HP:0030059	Mitochondrial depletion	26235	FBXL4	OMIM:615471
HP:0030059	Mitochondrial depletion	4703	NEB	OMIM:256030
HP:0030059	Mitochondrial depletion	7273	TTN	OMIM:611705
HP:0030058	Sickled erythrocytes	3043	HBB	ORPHA:90039
HP:0030057	Autoimmune antibody positivity	355	FAS	ORPHA:3261
HP:0030057	Autoimmune antibody positivity	355	FAS	OMIM:601859
HP:0030057	Autoimmune antibody positivity	356	FASLG	ORPHA:3261
HP:0030057	Autoimmune antibody positivity	356	FASLG	OMIM:601859
HP:0030057	Autoimmune antibody positivity	843	CASP10	ORPHA:3261
HP:0030057	Autoimmune antibody positivity	843	CASP10	OMIM:603909
HP:0030057	Autoimmune antibody positivity	139818	DOCK11	OMIM:301109
HP:0030057	Autoimmune antibody positivity	29775	CARD10	OMIM:619632
HP:0030057	Autoimmune antibody positivity	5238	PGM3	ORPHA:443811
HP:0030057	Autoimmune antibody positivity	5238	PGM3	OMIM:615816
HP:0030057	Autoimmune antibody positivity	340061	STING1	OMIM:615934
HP:0030057	Autoimmune antibody positivity	3586	IL10	OMIM:180300
HP:0030057	Autoimmune antibody positivity	6583	SLC22A4	OMIM:180300
HP:0030057	Autoimmune antibody positivity	26191	PTPN22	OMIM:180300
HP:0030057	Autoimmune antibody positivity	4261	CIITA	OMIM:180300
HP:0030057	Autoimmune antibody positivity	51744	CD244	OMIM:180300
HP:0030057	Autoimmune antibody positivity	4795	NFKBIL1	OMIM:180300
HP:0030057	Autoimmune antibody positivity	713	C1QB	OMIM:620321
HP:0030057	Autoimmune antibody positivity	3106	HLA-B	OMIM:106300
HP:0030057	Autoimmune antibody positivity	8737	RIPK1	OMIM:618852
HP:0030057	Autoimmune antibody positivity	8838	CCN6	ORPHA:1159
HP:0030057	Autoimmune antibody positivity	79415	CYBC1	OMIM:618935
HP:0030057	Autoimmune antibody positivity	3459	IFNGR1	OMIM:209950
HP:0030057	Autoimmune antibody positivity	4067	LYN	OMIM:620376
HP:0030057	Autoimmune antibody positivity	919	CD247	OMIM:610163
HP:0030057	Autoimmune antibody positivity	83737	ITCH	ORPHA:228426
HP:0030057	Autoimmune antibody positivity	1288	COL4A6	ORPHA:1018
HP:0030057	Autoimmune antibody positivity	1287	COL4A5	ORPHA:1018
HP:0030057	Autoimmune antibody positivity	51311	TLR8	OMIM:301078
HP:0030057	Autoimmune antibody positivity	10312	TCIRG1	ORPHA:486
HP:0030057	Autoimmune antibody positivity	6728	SRP19	ORPHA:486
HP:0030057	Autoimmune antibody positivity	1991	ELANE	ORPHA:486
HP:0030057	Autoimmune antibody positivity	2672	GFI1	ORPHA:486
HP:0030057	Autoimmune antibody positivity	81570	CLPB	ORPHA:486
HP:0030057	Autoimmune antibody positivity	2215	FCGR3B	ORPHA:464370
HP:0030057	Autoimmune antibody positivity	2215	FCGR3B	ORPHA:536
HP:0030057	Autoimmune antibody positivity	23308	ICOSLG	OMIM:620825
HP:0030057	Autoimmune antibody positivity	6775	STAT4	ORPHA:93552
HP:0030057	Autoimmune antibody positivity	6775	STAT4	ORPHA:536
HP:0030057	Autoimmune antibody positivity	6696	SPP1	ORPHA:93552
HP:0030057	Autoimmune antibody positivity	6696	SPP1	ORPHA:536
HP:0030057	Autoimmune antibody positivity	6303	SAT1	ORPHA:93552
HP:0030057	Autoimmune antibody positivity	3654	IRAK1	ORPHA:93552
HP:0030057	Autoimmune antibody positivity	3654	IRAK1	ORPHA:536
HP:0030057	Autoimmune antibody positivity	3684	ITGAM	ORPHA:536
HP:0030057	Autoimmune antibody positivity	221895	JAZF1	ORPHA:536
HP:0030057	Autoimmune antibody positivity	11277	TREX1	ORPHA:536
HP:0030057	Autoimmune antibody positivity	7292	TNFSF4	ORPHA:536
HP:0030057	Autoimmune antibody positivity	720	C4A	ORPHA:536
HP:0030057	Autoimmune antibody positivity	55024	BANK1	ORPHA:536
HP:0030057	Autoimmune antibody positivity	3500	IGHG1	ORPHA:536
HP:0030057	Autoimmune antibody positivity	1380	CR2	ORPHA:536
HP:0030057	Autoimmune antibody positivity	5133	PDCD1	ORPHA:536
HP:0030057	Autoimmune antibody positivity	2113	ETS1	ORPHA:536
HP:0030057	Autoimmune antibody positivity	2213	FCGR2B	ORPHA:536
HP:0030057	Autoimmune antibody positivity	10318	TNIP1	ORPHA:536
HP:0030057	Autoimmune antibody positivity	7332	UBE2L3	ORPHA:536
HP:0030057	Autoimmune antibody positivity	79932	KIAA0319L	ORPHA:536
HP:0030057	Autoimmune antibody positivity	4204	MECP2	ORPHA:536
HP:0030057	Autoimmune antibody positivity	3663	IRF5	ORPHA:536
HP:0030057	Autoimmune antibody positivity	721	C4B	ORPHA:536
HP:0030057	Autoimmune antibody positivity	1773	DNASE1	ORPHA:536
HP:0030057	Autoimmune antibody positivity	51284	TLR7	ORPHA:536
HP:0030057	Autoimmune antibody positivity	54899	PXK	ORPHA:536
HP:0030057	Autoimmune antibody positivity	7128	TNFAIP3	ORPHA:536
HP:0030057	Autoimmune antibody positivity	9056	SLC7A7	ORPHA:470
HP:0030057	Autoimmune antibody positivity	1410	CRYAB	OMIM:608810
HP:0030057	Autoimmune antibody positivity	3560	IL2RB	ORPHA:85410
HP:0030057	Autoimmune antibody positivity	3560	IL2RB	ORPHA:85408
HP:0030057	Autoimmune antibody positivity	79722	ANKRD55	ORPHA:85410
HP:0030057	Autoimmune antibody positivity	79722	ANKRD55	ORPHA:85408
HP:0030057	Autoimmune antibody positivity	3559	IL2RA	ORPHA:85410
HP:0030057	Autoimmune antibody positivity	3559	IL2RA	ORPHA:85408
HP:0030057	Autoimmune antibody positivity	5771	PTPN2	ORPHA:85410
HP:0030057	Autoimmune antibody positivity	5771	PTPN2	ORPHA:85408
HP:0030057	Autoimmune antibody positivity	931	MS4A1	OMIM:613495
HP:0030057	Autoimmune antibody positivity	1776	DNASE1L3	OMIM:614420
HP:0030057	Autoimmune antibody positivity	5580	PRKCD	OMIM:615559
HP:0030057	Autoimmune antibody positivity	5336	PLCG2	OMIM:614468
HP:0030057	Autoimmune antibody positivity	3594	IL12RB1	ORPHA:186
HP:0030057	Autoimmune antibody positivity	23534	TNPO3	ORPHA:186
HP:0030057	Autoimmune antibody positivity	3592	IL12A	ORPHA:186
HP:0030057	Autoimmune antibody positivity	6689	SPIB	ORPHA:186
HP:0030057	Autoimmune antibody positivity	5450	POU2AF1	ORPHA:186
HP:0030057	Autoimmune antibody positivity	9966	TNFSF15	ORPHA:186
HP:0030057	Autoimmune antibody positivity	79258	MMEL1	ORPHA:186
HP:0030057	Autoimmune antibody positivity	144811	LACC1	OMIM:618795
HP:0030057	Autoimmune antibody positivity	22861	NLRP1	OMIM:617388
HP:0030057	Autoimmune antibody positivity	1314	COPA	OMIM:616414
HP:0030057	Autoimmune antibody positivity	5335	PLCG1	OMIM:620514
HP:0030057	Autoimmune antibody positivity	54	ACP5	OMIM:607944
HP:0030057	Autoimmune antibody positivity	54	ACP5	ORPHA:1855
HP:0030057	Autoimmune antibody positivity	51371	POMP	OMIM:618048
HP:0030057	Autoimmune antibody positivity	3930	LBR	OMIM:613471
HP:0030057	Autoimmune antibody positivity	8651	SOCS1	OMIM:619375
HP:0030057	Autoimmune antibody positivity	4358	MPV17	OMIM:256810
HP:0030057	Autoimmune antibody positivity	129607	CMPK2	OMIM:621018
HP:0030057	Autoimmune antibody positivity	714	C1QC	OMIM:620322
HP:0030057	Autoimmune antibody positivity	10095	ARPC1B	OMIM:617718
HP:0030057	Autoimmune antibody positivity	4313	MMP2	OMIM:259600
HP:0030057	Autoimmune antibody positivity	440275	EIF2AK4	ORPHA:199241
HP:0030057	Autoimmune antibody positivity	2212	FCGR2A	OMIM:152700
HP:0030057	Autoimmune antibody positivity	10125	RASGRP1	OMIM:618534
HP:0030057	Autoimmune antibody positivity	2582	GALE	OMIM:620776
HP:0030057	Autoimmune antibody positivity	51816	ADA2	OMIM:182410
HP:0030057	Autoimmune antibody positivity	51816	ADA2	ORPHA:820
HP:0030057	Autoimmune antibody positivity	6772	STAT1	ORPHA:391487
HP:0030057	Autoimmune antibody positivity	9103	FCGR2C	ORPHA:3002
HP:0030057	Autoimmune antibody positivity	50943	FOXP3	OMIM:304790
HP:0030057	Autoimmune antibody positivity	1854	DUT	OMIM:620044
HP:0030057	Autoimmune antibody positivity	100	ADA	ORPHA:277
HP:0030057	Autoimmune antibody positivity	7068	THRB	ORPHA:566243
HP:0030057	Autoimmune antibody positivity	7068	THRB	OMIM:274300
HP:0030057	Autoimmune antibody positivity	169792	GLIS3	OMIM:610199
HP:0030057	Autoimmune antibody positivity	3767	KCNJ11	ORPHA:552
HP:0030057	Autoimmune antibody positivity	3767	KCNJ11	ORPHA:79134
HP:0030057	Autoimmune antibody positivity	3767	KCNJ11	ORPHA:99885
HP:0030057	Autoimmune antibody positivity	3767	KCNJ11	ORPHA:99886
HP:0030057	Autoimmune antibody positivity	8462	KLF11	ORPHA:552
HP:0030057	Autoimmune antibody positivity	2645	GCK	ORPHA:552
HP:0030057	Autoimmune antibody positivity	2645	GCK	ORPHA:99885
HP:0030057	Autoimmune antibody positivity	26060	APPL1	ORPHA:552
HP:0030057	Autoimmune antibody positivity	640	BLK	ORPHA:552
HP:0030057	Autoimmune antibody positivity	1056	CEL	ORPHA:552
HP:0030057	Autoimmune antibody positivity	4760	NEUROD1	ORPHA:552
HP:0030057	Autoimmune antibody positivity	3651	PDX1	ORPHA:552
HP:0030057	Autoimmune antibody positivity	3651	PDX1	ORPHA:99885
HP:0030057	Autoimmune antibody positivity	6833	ABCC8	ORPHA:552
HP:0030057	Autoimmune antibody positivity	6833	ABCC8	ORPHA:79134
HP:0030057	Autoimmune antibody positivity	6833	ABCC8	ORPHA:99885
HP:0030057	Autoimmune antibody positivity	6833	ABCC8	ORPHA:99886
HP:0030057	Autoimmune antibody positivity	5078	PAX4	ORPHA:552
HP:0030057	Autoimmune antibody positivity	3172	HNF4A	ORPHA:552
HP:0030057	Autoimmune antibody positivity	6927	HNF1A	ORPHA:552
HP:0030057	Autoimmune antibody positivity	3630	INS	ORPHA:552
HP:0030057	Autoimmune antibody positivity	3630	INS	ORPHA:99885
HP:0030057	Autoimmune antibody positivity	4791	NFKB2	ORPHA:293978
HP:0030057	Autoimmune antibody positivity	7253	TSHR	ORPHA:99819
HP:0030057	Autoimmune antibody positivity	7253	TSHR	ORPHA:424
HP:0030057	Autoimmune antibody positivity	7253	TSHR	ORPHA:90673
HP:0030057	Autoimmune antibody positivity	3123	HLA-DRB1	ORPHA:747
HP:0030057	Autoimmune antibody positivity	811	CALR	ORPHA:824
HP:0030057	Autoimmune antibody positivity	4352	MPL	ORPHA:824
HP:0030057	Autoimmune antibody positivity	3717	JAK2	ORPHA:824
HP:0030057	Autoimmune antibody positivity	54790	TET2	ORPHA:824
HP:0030057	Autoimmune antibody positivity	2778	GNAS	ORPHA:94089
HP:0030057	Autoimmune antibody positivity	2778	GNAS	ORPHA:79443
HP:0030057	Autoimmune antibody positivity	2778	GNAS	ORPHA:79444
HP:0030057	Autoimmune antibody positivity	8675	STX16	ORPHA:94089
HP:0030057	Autoimmune antibody positivity	7317	UBA1	OMIM:301054
HP:0030057	Autoimmune antibody positivity	81858	SHARPIN	OMIM:620795
HP:0030057	Autoimmune antibody positivity	79731	NARS2	ORPHA:79134
HP:0030057	Autoimmune antibody positivity	6774	STAT3	ORPHA:99885
HP:0030057	Autoimmune antibody positivity	346171	ZFP57	ORPHA:99886
HP:0030057	Autoimmune antibody positivity	57061	HYMAI	ORPHA:99886
HP:0030057	Autoimmune antibody positivity	5325	PLAGL1	ORPHA:99886
HP:0030057	Autoimmune antibody positivity	7252	TSHB	ORPHA:90674
HP:0030057	Autoimmune antibody positivity	3458	IFNG	ORPHA:88
HP:0030057	Autoimmune antibody positivity	5551	PRF1	ORPHA:88
HP:0030057	Autoimmune antibody positivity	7012	TERC	ORPHA:88
HP:0030057	Autoimmune antibody positivity	51119	SBDS	ORPHA:88
HP:0030057	Autoimmune antibody positivity	7015	TERT	ORPHA:88
HP:0030057	Autoimmune antibody positivity	1439	CSF2RB	ORPHA:264675
HP:0030057	Autoimmune antibody positivity	1438	CSF2RA	ORPHA:264675
HP:0030057	Autoimmune antibody positivity	7201	TRHR	ORPHA:99832
HP:0030057	Autoimmune antibody positivity	1493	CTLA4	OMIM:140300
HP:0030057	Autoimmune antibody positivity	8772	FADD	ORPHA:306550
HP:0030057	Autoimmune antibody positivity	2903	GRIN2A	ORPHA:98818
HP:0030057	Autoimmune antibody positivity	5339	PLEC	ORPHA:254361
HP:0030057	Autoimmune antibody positivity	1134	CHRNA1	OMIM:601462
HP:0030057	Autoimmune antibody positivity	1134	CHRNA1	OMIM:608930
HP:0030057	Autoimmune antibody positivity	6329	SCN4A	OMIM:614198
HP:0030057	Autoimmune antibody positivity	5913	RAPSN	OMIM:616326
HP:0030057	Autoimmune antibody positivity	199857	ALG14	OMIM:616227
HP:0030057	Autoimmune antibody positivity	1103	CHAT	OMIM:254210
HP:0030057	Autoimmune antibody positivity	1103	CHAT	ORPHA:98914
HP:0030057	Autoimmune antibody positivity	1140	CHRNB1	OMIM:616314
HP:0030057	Autoimmune antibody positivity	1140	CHRNB1	OMIM:616313
HP:0030057	Autoimmune antibody positivity	1145	CHRNE	OMIM:616324
HP:0030057	Autoimmune antibody positivity	1144	CHRND	OMIM:616323
HP:0030057	Autoimmune antibody positivity	9581	PREPL	OMIM:616224
HP:0030057	Autoimmune antibody positivity	60482	SLC5A7	ORPHA:98914
HP:0030057	Autoimmune antibody positivity	4649	MYO9A	ORPHA:98914
HP:0030057	Autoimmune antibody positivity	1305	COL13A1	ORPHA:98914
HP:0030057	Autoimmune antibody positivity	6576	SLC25A1	ORPHA:98914
HP:0030057	Autoimmune antibody positivity	6843	VAMP1	ORPHA:98914
HP:0030057	Autoimmune antibody positivity	375790	AGRN	ORPHA:98914
HP:0030057	Autoimmune antibody positivity	127833	SYT2	ORPHA:98914
HP:0030057	Autoimmune antibody positivity	6572	SLC18A3	ORPHA:98914
HP:0030057	Autoimmune antibody positivity	6616	SNAP25	ORPHA:98914
HP:0030057	Autoimmune antibody positivity	8292	COLQ	OMIM:603034
HP:0030057	Autoimmune antibody positivity	285489	DOK7	OMIM:254300
HP:0030057	Autoimmune antibody positivity	4593	MUSK	OMIM:616325
HP:0030057	Autoimmune antibody positivity	5265	SERPINA1	ORPHA:60
HP:0030057	Autoimmune antibody positivity	60468	BACH2	OMIM:618394
HP:0030057	Autoimmune antibody positivity	50619	DEF6	OMIM:619573
HP:0030057	Autoimmune antibody positivity	8625	RFXANK	OMIM:620815
HP:0030057	Autoimmune antibody positivity	6891	TAP2	OMIM:620813
HP:0030057	Autoimmune antibody positivity	6005	RHAG	ORPHA:71275
HP:0030057	Autoimmune antibody positivity	6006	RHCE	ORPHA:71275
HP:0030057	Autoimmune antibody positivity	6007	RHD	ORPHA:71275
HP:0030057	Autoimmune antibody positivity	1499	CTNNB1	ORPHA:91414
HP:0030057	Autoimmune antibody positivity	10020	GNE	OMIM:620757
HP:0030057	Autoimmune antibody positivity	326	AIRE	ORPHA:3453
HP:0030057	Autoimmune antibody positivity	326	AIRE	OMIM:240300
HP:0030057	Autoimmune antibody positivity	5611	DNAJC3	OMIM:616192
HP:0030057	Autoimmune antibody positivity	3115	HLA-DPB1	ORPHA:900
HP:0030057	Autoimmune antibody positivity	5657	PRTN3	ORPHA:900
HP:0030057	Autoimmune antibody positivity	3113	HLA-DPA1	ORPHA:900
HP:0030057	Autoimmune antibody positivity	2304	FOXE1	OMIM:241850
HP:0030057	Autoimmune antibody positivity	3119	HLA-DQB1	ORPHA:703
HP:0030057	Autoimmune antibody positivity	60	ACTB	OMIM:620475
HP:0030057	Autoimmune antibody positivity	93587	TRMT10A	OMIM:616033
HP:0030056	Uncombable hair	120766137	HRURF	OMIM:146550
HP:0030056	Uncombable hair	9652	SKIC3	ORPHA:84064
HP:0030056	Uncombable hair	6499	SKIC2	ORPHA:84064
HP:0030056	Uncombable hair	6499	SKIC2	OMIM:614602
HP:0030056	Uncombable hair	51702	PADI3	OMIM:191480
HP:0030056	Uncombable hair	8626	TP63	OMIM:129400
HP:0030056	Uncombable hair	7062	TCHH	OMIM:617252
HP:0030056	Uncombable hair	7053	TGM3	OMIM:617251
HP:0030010	Hydrometrocolpos	2737	GLI3	ORPHA:672
HP:0030010	Hydrometrocolpos	166379	BBS12	OMIM:615989
HP:0030010	Hydrometrocolpos	166379	BBS12	ORPHA:110
HP:0030010	Hydrometrocolpos	8195	MKKS	OMIM:236700
HP:0030010	Hydrometrocolpos	8195	MKKS	ORPHA:110
HP:0030010	Hydrometrocolpos	8195	MKKS	ORPHA:2473
HP:0030010	Hydrometrocolpos	92482	BBIP1	ORPHA:110
HP:0030010	Hydrometrocolpos	80184	CEP290	ORPHA:110
HP:0030010	Hydrometrocolpos	11020	IFT27	ORPHA:110
HP:0030010	Hydrometrocolpos	582	BBS1	ORPHA:110
HP:0030010	Hydrometrocolpos	49855	SCAPER	ORPHA:110
HP:0030010	Hydrometrocolpos	4867	NPHP1	ORPHA:110
HP:0030010	Hydrometrocolpos	51057	WDPCP	ORPHA:110
HP:0030010	Hydrometrocolpos	132320	SCLT1	ORPHA:110
HP:0030010	Hydrometrocolpos	27241	BBS9	ORPHA:110
HP:0030010	Hydrometrocolpos	84984	CEP19	ORPHA:110
HP:0030010	Hydrometrocolpos	22954	TRIM32	ORPHA:110
HP:0030010	Hydrometrocolpos	54903	MKS1	ORPHA:110
HP:0030010	Hydrometrocolpos	79738	BBS10	ORPHA:110
HP:0030010	Hydrometrocolpos	123016	TTC8	ORPHA:110
HP:0030010	Hydrometrocolpos	26160	IFT172	ORPHA:110
HP:0030010	Hydrometrocolpos	583	BBS2	ORPHA:110
HP:0030010	Hydrometrocolpos	585	BBS4	ORPHA:110
HP:0030010	Hydrometrocolpos	54585	LZTFL1	ORPHA:110
HP:0030010	Hydrometrocolpos	55212	BBS7	ORPHA:110
HP:0030010	Hydrometrocolpos	10806	SDCCAG8	ORPHA:110
HP:0030010	Hydrometrocolpos	157657	CFAP418	ORPHA:110
HP:0030010	Hydrometrocolpos	84100	ARL6	ORPHA:110
HP:0030010	Hydrometrocolpos	129880	BBS5	ORPHA:110
HP:0030010	Hydrometrocolpos	80173	IFT74	ORPHA:110
HP:0030010	Hydrometrocolpos	7490	WT1	ORPHA:3097
HP:0030010	Hydrometrocolpos	51626	DYNC2LI1	OMIM:617088
HP:0030018	Decreased female libido	2488	FSHB	ORPHA:52901
HP:0030018	Decreased female libido	64072	CDH23	ORPHA:91347
HP:0030018	Decreased female libido	64072	CDH23	ORPHA:2965
HP:0030018	Decreased female libido	4221	MEN1	ORPHA:2965
HP:0030018	Decreased female libido	9049	AIP	ORPHA:2965
HP:0030016	Dyspareunia	2535	FZD2	OMIM:164745
HP:0030016	Dyspareunia	3106	HLA-B	ORPHA:36426
HP:0030016	Dyspareunia	10320	IKZF1	ORPHA:36426
HP:0030016	Dyspareunia	84818	IL17RC	ORPHA:1334
HP:0030016	Dyspareunia	64581	CLEC7A	ORPHA:1334
HP:0030016	Dyspareunia	23765	IL17RA	ORPHA:1334
HP:0030016	Dyspareunia	10758	TRAF3IP2	ORPHA:1334
HP:0030016	Dyspareunia	112744	IL17F	ORPHA:1334
HP:0030016	Dyspareunia	4221	MEN1	ORPHA:2965
HP:0030016	Dyspareunia	64072	CDH23	ORPHA:2965
HP:0030016	Dyspareunia	9049	AIP	ORPHA:2965
HP:0030016	Dyspareunia	1235	CCR6	ORPHA:220393
HP:0030016	Dyspareunia	1490	CCN2	ORPHA:220393
HP:0030016	Dyspareunia	3663	IRF5	ORPHA:220393
HP:0030016	Dyspareunia	857	CAV1	ORPHA:220393
HP:0030016	Dyspareunia	3123	HLA-DRB1	ORPHA:220393
HP:0030016	Dyspareunia	2260	FGFR1	ORPHA:478
HP:0030016	Dyspareunia	10371	SEMA3A	ORPHA:478
HP:0030016	Dyspareunia	81848	SPRY4	ORPHA:478
HP:0030016	Dyspareunia	23767	FLRT3	ORPHA:478
HP:0030016	Dyspareunia	128674	PROKR2	ORPHA:478
HP:0030016	Dyspareunia	79625	NDNF	ORPHA:478
HP:0030016	Dyspareunia	2253	FGF8	ORPHA:478
HP:0030016	Dyspareunia	389549	FEZF1	ORPHA:478
HP:0030016	Dyspareunia	1630	DCC	ORPHA:478
HP:0030016	Dyspareunia	3730	ANOS1	ORPHA:478
HP:0030016	Dyspareunia	54756	IL17RD	ORPHA:478
HP:0030016	Dyspareunia	6663	SOX10	ORPHA:478
HP:0030016	Dyspareunia	285025	CCDC141	ORPHA:478
HP:0030016	Dyspareunia	60675	PROK2	ORPHA:478
HP:0030016	Dyspareunia	55636	CHD7	ORPHA:478
HP:0030016	Dyspareunia	1848	DUSP6	ORPHA:478
HP:0030016	Dyspareunia	6870	TACR3	ORPHA:478
HP:0030016	Dyspareunia	55717	WDR11	ORPHA:478
HP:0030016	Dyspareunia	9394	HS6ST1	ORPHA:478
HP:0030016	Dyspareunia	8820	HESX1	ORPHA:478
HP:0030016	Dyspareunia	8822	FGF17	ORPHA:478
HP:0030015	Female anorgasmia	27235	COQ2	ORPHA:227510
HP:0030015	Female anorgasmia	27235	COQ2	ORPHA:98933
HP:0030014	Female sexual dysfunction	6253	RTN2	ORPHA:100993
HP:0030014	Female sexual dysfunction	51271	UBAP1	ORPHA:100993
HP:0030014	Female sexual dysfunction	54832	VPS13C	ORPHA:2828
HP:0030014	Female sexual dysfunction	11315	PARK7	ORPHA:2828
HP:0030014	Female sexual dysfunction	7345	UCHL1	ORPHA:2828
HP:0030014	Female sexual dysfunction	27429	HTRA2	ORPHA:2828
HP:0030014	Female sexual dysfunction	120892	LRRK2	ORPHA:2828
HP:0030014	Female sexual dysfunction	9829	DNAJC6	ORPHA:2828
HP:0030014	Female sexual dysfunction	6622	SNCA	ORPHA:2828
HP:0030014	Female sexual dysfunction	5420	PODXL	ORPHA:2828
HP:0030014	Female sexual dysfunction	65018	PINK1	ORPHA:2828
HP:0030014	Female sexual dysfunction	8867	SYNJ1	ORPHA:2828
HP:0030014	Female sexual dysfunction	5071	PRKN	ORPHA:2828
HP:0030014	Female sexual dysfunction	1512	CTSH	ORPHA:2073
HP:0030014	Female sexual dysfunction	5032	P2RY11	ORPHA:2073
HP:0030014	Female sexual dysfunction	4340	MOG	ORPHA:2073
HP:0030014	Female sexual dysfunction	3119	HLA-DQB1	ORPHA:2073
HP:0030014	Female sexual dysfunction	3060	HCRT	ORPHA:2073
HP:0030014	Female sexual dysfunction	22891	ZNF365	ORPHA:2073
HP:0030014	Female sexual dysfunction	7292	TNFSF4	ORPHA:2073
HP:0030014	Female sexual dysfunction	3123	HLA-DRB1	ORPHA:2073
HP:0030014	Female sexual dysfunction	215	ABCD1	ORPHA:139399
HP:0030014	Female sexual dysfunction	27235	COQ2	ORPHA:227510
HP:0030014	Female sexual dysfunction	27235	COQ2	ORPHA:98933
HP:0030014	Female sexual dysfunction	2535	FZD2	OMIM:164745
HP:0030014	Female sexual dysfunction	3106	HLA-B	ORPHA:36426
HP:0030014	Female sexual dysfunction	10320	IKZF1	ORPHA:36426
HP:0030014	Female sexual dysfunction	84818	IL17RC	ORPHA:1334
HP:0030014	Female sexual dysfunction	64581	CLEC7A	ORPHA:1334
HP:0030014	Female sexual dysfunction	23765	IL17RA	ORPHA:1334
HP:0030014	Female sexual dysfunction	10758	TRAF3IP2	ORPHA:1334
HP:0030014	Female sexual dysfunction	112744	IL17F	ORPHA:1334
HP:0030014	Female sexual dysfunction	4221	MEN1	ORPHA:2965
HP:0030014	Female sexual dysfunction	64072	CDH23	ORPHA:2965
HP:0030014	Female sexual dysfunction	9049	AIP	ORPHA:2965
HP:0030014	Female sexual dysfunction	1235	CCR6	ORPHA:220393
HP:0030014	Female sexual dysfunction	1490	CCN2	ORPHA:220393
HP:0030014	Female sexual dysfunction	3663	IRF5	ORPHA:220393
HP:0030014	Female sexual dysfunction	857	CAV1	ORPHA:220393
HP:0030014	Female sexual dysfunction	2260	FGFR1	ORPHA:478
HP:0030014	Female sexual dysfunction	10371	SEMA3A	ORPHA:478
HP:0030014	Female sexual dysfunction	81848	SPRY4	ORPHA:478
HP:0030014	Female sexual dysfunction	23767	FLRT3	ORPHA:478
HP:0030014	Female sexual dysfunction	128674	PROKR2	ORPHA:478
HP:0030014	Female sexual dysfunction	79625	NDNF	ORPHA:478
HP:0030014	Female sexual dysfunction	2253	FGF8	ORPHA:478
HP:0030014	Female sexual dysfunction	389549	FEZF1	ORPHA:478
HP:0030014	Female sexual dysfunction	1630	DCC	ORPHA:478
HP:0030014	Female sexual dysfunction	3730	ANOS1	ORPHA:478
HP:0030014	Female sexual dysfunction	54756	IL17RD	ORPHA:478
HP:0030014	Female sexual dysfunction	6663	SOX10	ORPHA:478
HP:0030014	Female sexual dysfunction	285025	CCDC141	ORPHA:478
HP:0030014	Female sexual dysfunction	60675	PROK2	ORPHA:478
HP:0030014	Female sexual dysfunction	55636	CHD7	ORPHA:478
HP:0030014	Female sexual dysfunction	1848	DUSP6	ORPHA:478
HP:0030014	Female sexual dysfunction	6870	TACR3	ORPHA:478
HP:0030014	Female sexual dysfunction	55717	WDR11	ORPHA:478
HP:0030014	Female sexual dysfunction	9394	HS6ST1	ORPHA:478
HP:0030014	Female sexual dysfunction	8820	HESX1	ORPHA:478
HP:0030014	Female sexual dysfunction	8822	FGF17	ORPHA:478
HP:0030014	Female sexual dysfunction	2488	FSHB	ORPHA:52901
HP:0030014	Female sexual dysfunction	26012	NSMF	ORPHA:432
HP:0030014	Female sexual dysfunction	4808	NHLH2	ORPHA:432
HP:0030014	Female sexual dysfunction	2796	GNRH1	ORPHA:432
HP:0030014	Female sexual dysfunction	2798	GNRHR	ORPHA:432
HP:0030014	Female sexual dysfunction	84634	KISS1R	ORPHA:432
HP:0030014	Female sexual dysfunction	6866	TAC3	ORPHA:432
HP:0030014	Female sexual dysfunction	3814	KISS1	ORPHA:432
HP:0007181	Interosseus muscle atrophy	2617	GARS1	OMIM:600794
HP:0007181	Interosseus muscle atrophy	2617	GARS1	ORPHA:139536
HP:0007181	Interosseus muscle atrophy	2617	GARS1	OMIM:601472
HP:0007181	Interosseus muscle atrophy	26580	BSCL2	ORPHA:139536
HP:0007181	Interosseus muscle atrophy	26580	BSCL2	OMIM:270685
HP:0007181	Interosseus muscle atrophy	65055	REEP1	ORPHA:139536
HP:0007181	Interosseus muscle atrophy	8884	SLC5A6	OMIM:619903
HP:0007181	Interosseus muscle atrophy	26092	TOR1AIP1	OMIM:617072
HP:0007183	Focal T2 hyperintense basal ganglia lesion	435	ASL	ORPHA:23
HP:0007183	Focal T2 hyperintense basal ganglia lesion	8802	SUCLG1	OMIM:245400
HP:0007183	Focal T2 hyperintense basal ganglia lesion	5621	PRNP	ORPHA:282166
HP:0007183	Focal T2 hyperintense basal ganglia lesion	51204	TACO1	OMIM:619052
HP:0007183	Focal T2 hyperintense basal ganglia lesion	4535	MT-ND1	ORPHA:255210
HP:0007183	Focal T2 hyperintense basal ganglia lesion	4536	MT-ND2	ORPHA:255210
HP:0007183	Focal T2 hyperintense basal ganglia lesion	4537	MT-ND3	ORPHA:255210
HP:0007183	Focal T2 hyperintense basal ganglia lesion	4538	MT-ND4	ORPHA:255210
HP:0007183	Focal T2 hyperintense basal ganglia lesion	4567	MT-TL1	ORPHA:255210
HP:0007183	Focal T2 hyperintense basal ganglia lesion	4578	MT-TW	ORPHA:255210
HP:0007183	Focal T2 hyperintense basal ganglia lesion	4577	MT-TV	ORPHA:255210
HP:0007183	Focal T2 hyperintense basal ganglia lesion	4508	MT-ATP6	ORPHA:255210
HP:0007183	Focal T2 hyperintense basal ganglia lesion	4540	MT-ND5	ORPHA:255210
HP:0007183	Focal T2 hyperintense basal ganglia lesion	4541	MT-ND6	ORPHA:255210
HP:0007183	Focal T2 hyperintense basal ganglia lesion	4566	MT-TK	ORPHA:255210
HP:0007183	Focal T2 hyperintense basal ganglia lesion	9997	SCO2	OMIM:604377
HP:0007183	Focal T2 hyperintense basal ganglia lesion	85365	ALG2	OMIM:607906
HP:0007183	Focal T2 hyperintense basal ganglia lesion	4724	NDUFS4	OMIM:252010
HP:0007183	Focal T2 hyperintense basal ganglia lesion	80208	SPG11	ORPHA:2822
HP:0007183	Focal T2 hyperintense basal ganglia lesion	2670	GFAP	ORPHA:363717
HP:0007183	Focal T2 hyperintense basal ganglia lesion	57107	PDSS2	OMIM:614652
HP:0007183	Focal T2 hyperintense basal ganglia lesion	4719	NDUFS1	OMIM:618226
HP:0007183	Focal T2 hyperintense basal ganglia lesion	23474	ETHE1	OMIM:602473
HP:0007183	Focal T2 hyperintense basal ganglia lesion	10128	LRPPRC	ORPHA:70472
HP:0007183	Focal T2 hyperintense basal ganglia lesion	10846	PDE10A	ORPHA:494541
HP:0007183	Focal T2 hyperintense basal ganglia lesion	51102	MECR	ORPHA:508093
HP:0001347	Hyperreflexia	2137	EXTL3	ORPHA:508533
HP:0001347	Hyperreflexia	2137	EXTL3	OMIM:617425
HP:0001347	Hyperreflexia	10749	KIF1C	ORPHA:397946
HP:0001347	Hyperreflexia	10749	KIF1C	OMIM:611302
HP:0001347	Hyperreflexia	3064	HTT	ORPHA:399
HP:0001347	Hyperreflexia	3064	HTT	OMIM:617435
HP:0001347	Hyperreflexia	3064	HTT	OMIM:143100
HP:0001347	Hyperreflexia	3064	HTT	ORPHA:248111
HP:0001347	Hyperreflexia	6515	SLC2A3	ORPHA:399
HP:0001347	Hyperreflexia	55703	POLR3B	OMIM:614381
HP:0001347	Hyperreflexia	55703	POLR3B	OMIM:619742
HP:0001347	Hyperreflexia	55703	POLR3B	OMIM:607694
HP:0001347	Hyperreflexia	26235	FBXL4	OMIM:615471
HP:0001347	Hyperreflexia	4099	MAG	OMIM:616680
HP:0001347	Hyperreflexia	10159	ATP6AP2	OMIM:300911
HP:0001347	Hyperreflexia	8367	H4C5	OMIM:619950
HP:0001347	Hyperreflexia	9853	RUSC2	OMIM:617773
HP:0001347	Hyperreflexia	4750	NEK1	OMIM:617892
HP:0001347	Hyperreflexia	4750	NEK1	ORPHA:803
HP:0001347	Hyperreflexia	6873	TAF2	OMIM:615599
HP:0001347	Hyperreflexia	6873	TAF2	ORPHA:397951
HP:0001347	Hyperreflexia	3265	HRAS	ORPHA:2612
HP:0001347	Hyperreflexia	3265	HRAS	ORPHA:2874
HP:0001347	Hyperreflexia	3845	KRAS	ORPHA:2612
HP:0001347	Hyperreflexia	4893	NRAS	ORPHA:2612
HP:0001347	Hyperreflexia	2895	GRID2	OMIM:616204
HP:0001347	Hyperreflexia	1161	ERCC8	ORPHA:90324
HP:0001347	Hyperreflexia	1161	ERCC8	ORPHA:90321
HP:0001347	Hyperreflexia	2074	ERCC6	ORPHA:90324
HP:0001347	Hyperreflexia	2074	ERCC6	ORPHA:90321
HP:0001347	Hyperreflexia	2074	ERCC6	OMIM:214150
HP:0001347	Hyperreflexia	51126	NAA20	OMIM:619717
HP:0001347	Hyperreflexia	7360	UGP2	OMIM:618744
HP:0001347	Hyperreflexia	1786	DNMT1	ORPHA:314404
HP:0001347	Hyperreflexia	1786	DNMT1	OMIM:604121
HP:0001347	Hyperreflexia	84942	WDR73	OMIM:251300
HP:0001347	Hyperreflexia	51	ACOX1	ORPHA:2971
HP:0001347	Hyperreflexia	57679	ALS2	ORPHA:247604
HP:0001347	Hyperreflexia	57679	ALS2	OMIM:205100
HP:0001347	Hyperreflexia	57679	ALS2	ORPHA:293168
HP:0001347	Hyperreflexia	57679	ALS2	OMIM:607225
HP:0001347	Hyperreflexia	57679	ALS2	OMIM:606353
HP:0001347	Hyperreflexia	11160	ERLIN2	ORPHA:247604
HP:0001347	Hyperreflexia	11160	ERLIN2	ORPHA:209951
HP:0001347	Hyperreflexia	11160	ERLIN2	OMIM:611225
HP:0001347	Hyperreflexia	2072	ERCC4	ORPHA:90321
HP:0001347	Hyperreflexia	2072	ERCC4	ORPHA:84
HP:0001347	Hyperreflexia	347733	TUBB2B	ORPHA:1766
HP:0001347	Hyperreflexia	7436	VLDLR	ORPHA:1766
HP:0001347	Hyperreflexia	7436	VLDLR	OMIM:224050
HP:0001347	Hyperreflexia	124997	WDR81	ORPHA:1766
HP:0001347	Hyperreflexia	51761	ATP8A2	ORPHA:1766
HP:0001347	Hyperreflexia	767	CA8	ORPHA:1766
HP:0001347	Hyperreflexia	2731	GLDC	OMIM:605899
HP:0001347	Hyperreflexia	5521	PPP2R2B	OMIM:604326
HP:0001347	Hyperreflexia	5521	PPP2R2B	ORPHA:98762
HP:0001347	Hyperreflexia	5354	PLP1	ORPHA:99015
HP:0001347	Hyperreflexia	5354	PLP1	ORPHA:280229
HP:0001347	Hyperreflexia	5354	PLP1	OMIM:312920
HP:0001347	Hyperreflexia	4535	MT-ND1	ORPHA:255210
HP:0001347	Hyperreflexia	4536	MT-ND2	ORPHA:255210
HP:0001347	Hyperreflexia	4537	MT-ND3	ORPHA:255210
HP:0001347	Hyperreflexia	4538	MT-ND4	ORPHA:255210
HP:0001347	Hyperreflexia	4567	MT-TL1	ORPHA:255210
HP:0001347	Hyperreflexia	4578	MT-TW	ORPHA:255210
HP:0001347	Hyperreflexia	4577	MT-TV	ORPHA:255210
HP:0001347	Hyperreflexia	4508	MT-ATP6	ORPHA:255210
HP:0001347	Hyperreflexia	4508	MT-ATP6	ORPHA:320360
HP:0001347	Hyperreflexia	4508	MT-ATP6	ORPHA:225154
HP:0001347	Hyperreflexia	4540	MT-ND5	ORPHA:255210
HP:0001347	Hyperreflexia	4541	MT-ND6	ORPHA:255210
HP:0001347	Hyperreflexia	4566	MT-TK	ORPHA:255210
HP:0001347	Hyperreflexia	4566	MT-TK	ORPHA:1349
HP:0001347	Hyperreflexia	10908	PNPLA6	ORPHA:139480
HP:0001347	Hyperreflexia	10908	PNPLA6	OMIM:612020
HP:0001347	Hyperreflexia	65993	MRPS34	OMIM:617664
HP:0001347	Hyperreflexia	10300	KATNB1	OMIM:616212
HP:0001347	Hyperreflexia	51741	WWOX	OMIM:616211
HP:0001347	Hyperreflexia	1630	DCC	OMIM:617542
HP:0001347	Hyperreflexia	8722	CTSF	OMIM:615362
HP:0001347	Hyperreflexia	5917	RARS1	ORPHA:438114
HP:0001347	Hyperreflexia	5917	RARS1	OMIM:616140
HP:0001347	Hyperreflexia	200205	IBA57	OMIM:616451
HP:0001347	Hyperreflexia	10528	NOP56	OMIM:614153
HP:0001347	Hyperreflexia	10528	NOP56	ORPHA:276198
HP:0001347	Hyperreflexia	56997	COQ8A	ORPHA:139485
HP:0001347	Hyperreflexia	56997	COQ8A	OMIM:612016
HP:0001347	Hyperreflexia	1841	DTYMK	OMIM:619847
HP:0001347	Hyperreflexia	10501	SEMA6B	OMIM:618876
HP:0001347	Hyperreflexia	57156	TMEM63C	OMIM:619966
HP:0001347	Hyperreflexia	284403	WDR62	OMIM:604317
HP:0001347	Hyperreflexia	284403	WDR62	ORPHA:2512
HP:0001347	Hyperreflexia	146057	TTBK2	OMIM:604432
HP:0001347	Hyperreflexia	8575	PRKRA	ORPHA:210571
HP:0001347	Hyperreflexia	8575	PRKRA	OMIM:612067
HP:0001347	Hyperreflexia	9289	ADGRG1	OMIM:606854
HP:0001347	Hyperreflexia	9289	ADGRG1	ORPHA:98889
HP:0001347	Hyperreflexia	3074	HEXB	ORPHA:309155
HP:0001347	Hyperreflexia	3074	HEXB	OMIM:268800
HP:0001347	Hyperreflexia	7345	UCHL1	OMIM:615491
HP:0001347	Hyperreflexia	7345	UCHL1	ORPHA:2828
HP:0001347	Hyperreflexia	5832	ALDH18A1	OMIM:616586
HP:0001347	Hyperreflexia	5832	ALDH18A1	OMIM:601162
HP:0001347	Hyperreflexia	5832	ALDH18A1	OMIM:219150
HP:0001347	Hyperreflexia	215	ABCD1	ORPHA:139399
HP:0001347	Hyperreflexia	9326	ZNHIT3	ORPHA:2836
HP:0001347	Hyperreflexia	9326	ZNHIT3	OMIM:260565
HP:0001347	Hyperreflexia	7920	ABHD16A	OMIM:619735
HP:0001347	Hyperreflexia	85465	SELENOI	OMIM:618768
HP:0001347	Hyperreflexia	6513	SLC2A1	OMIM:601042
HP:0001347	Hyperreflexia	6513	SLC2A1	ORPHA:53583
HP:0001347	Hyperreflexia	6513	SLC2A1	OMIM:608885
HP:0001347	Hyperreflexia	6513	SLC2A1	OMIM:606777
HP:0001347	Hyperreflexia	83480	PUS3	ORPHA:488627
HP:0001347	Hyperreflexia	2697	GJA1	ORPHA:2710
HP:0001347	Hyperreflexia	1716	DGUOK	OMIM:251880
HP:0001347	Hyperreflexia	343641	TGM6	ORPHA:276193
HP:0001347	Hyperreflexia	343641	TGM6	OMIM:613908
HP:0001347	Hyperreflexia	857	CAV1	OMIM:606721
HP:0001347	Hyperreflexia	55149	MTPAP	ORPHA:254343
HP:0001347	Hyperreflexia	22872	SEC31A	OMIM:618651
HP:0001347	Hyperreflexia	84504	NKX6-2	OMIM:617560
HP:0001347	Hyperreflexia	84504	NKX6-2	ORPHA:527497
HP:0001347	Hyperreflexia	5297	PI4KA	OMIM:619621
HP:0001347	Hyperreflexia	5297	PI4KA	ORPHA:98889
HP:0001347	Hyperreflexia	6712	SPTBN2	OMIM:615386
HP:0001347	Hyperreflexia	6712	SPTBN2	OMIM:600224
HP:0001347	Hyperreflexia	6712	SPTBN2	ORPHA:352403
HP:0001347	Hyperreflexia	83636	C19orf12	OMIM:614298
HP:0001347	Hyperreflexia	83636	C19orf12	OMIM:615043
HP:0001347	Hyperreflexia	5833	PCYT2	OMIM:618770
HP:0001347	Hyperreflexia	246243	RNASEH1	OMIM:616479
HP:0001347	Hyperreflexia	2783	GNB2	OMIM:619503
HP:0001347	Hyperreflexia	79731	NARS2	OMIM:616239
HP:0001347	Hyperreflexia	54832	VPS13C	ORPHA:2828
HP:0001347	Hyperreflexia	54832	VPS13C	OMIM:616840
HP:0001347	Hyperreflexia	11315	PARK7	ORPHA:2828
HP:0001347	Hyperreflexia	27429	HTRA2	ORPHA:2828
HP:0001347	Hyperreflexia	120892	LRRK2	ORPHA:2828
HP:0001347	Hyperreflexia	9829	DNAJC6	ORPHA:2828
HP:0001347	Hyperreflexia	6622	SNCA	ORPHA:2828
HP:0001347	Hyperreflexia	6622	SNCA	ORPHA:171695
HP:0001347	Hyperreflexia	5420	PODXL	ORPHA:2828
HP:0001347	Hyperreflexia	65018	PINK1	ORPHA:2828
HP:0001347	Hyperreflexia	65018	PINK1	OMIM:605909
HP:0001347	Hyperreflexia	8867	SYNJ1	ORPHA:2828
HP:0001347	Hyperreflexia	5071	PRKN	ORPHA:2828
HP:0001347	Hyperreflexia	5071	PRKN	OMIM:600116
HP:0001347	Hyperreflexia	5373	PMM2	OMIM:212065
HP:0001347	Hyperreflexia	5192	PEX10	ORPHA:247815
HP:0001347	Hyperreflexia	5192	PEX10	ORPHA:44
HP:0001347	Hyperreflexia	9897	WASHC5	OMIM:603563
HP:0001347	Hyperreflexia	9897	WASHC5	ORPHA:100989
HP:0001347	Hyperreflexia	8398	PLA2G6	ORPHA:199351
HP:0001347	Hyperreflexia	8398	PLA2G6	OMIM:612953
HP:0001347	Hyperreflexia	8398	PLA2G6	ORPHA:35069
HP:0001347	Hyperreflexia	8398	PLA2G6	OMIM:256600
HP:0001347	Hyperreflexia	10717	AP4B1	OMIM:614066
HP:0001347	Hyperreflexia	10717	AP4B1	ORPHA:280763
HP:0001347	Hyperreflexia	84879	MFSD2A	OMIM:616486
HP:0001347	Hyperreflexia	84879	MFSD2A	ORPHA:2512
HP:0001347	Hyperreflexia	91574	MTRFR	OMIM:615035
HP:0001347	Hyperreflexia	91574	MTRFR	ORPHA:320375
HP:0001347	Hyperreflexia	11154	AP4S1	OMIM:614067
HP:0001347	Hyperreflexia	11154	AP4S1	ORPHA:280763
HP:0001347	Hyperreflexia	23259	DDHD2	OMIM:615033
HP:0001347	Hyperreflexia	27089	UQCRQ	OMIM:615159
HP:0001347	Hyperreflexia	55280	CWF19L1	OMIM:616127
HP:0001347	Hyperreflexia	54902	TTC19	OMIM:615157
HP:0001347	Hyperreflexia	1660	DHX9	OMIM:620988
HP:0001347	Hyperreflexia	57282	SLC4A10	OMIM:620746
HP:0001347	Hyperreflexia	92609	TIMM50	OMIM:617698
HP:0001347	Hyperreflexia	92609	TIMM50	ORPHA:505216
HP:0001347	Hyperreflexia	391356	PTRHD1	OMIM:620747
HP:0001347	Hyperreflexia	8021	NUP214	OMIM:618426
HP:0001347	Hyperreflexia	7337	UBE3A	OMIM:105830
HP:0001347	Hyperreflexia	6638	SNRPN	OMIM:105830
HP:0001347	Hyperreflexia	6638	SNRPN	ORPHA:177907
HP:0001347	Hyperreflexia	58	ACTA1	OMIM:161800
HP:0001347	Hyperreflexia	111	ADCY5	OMIM:606703
HP:0001347	Hyperreflexia	111	ADCY5	ORPHA:324588
HP:0001347	Hyperreflexia	79796	ALG9	ORPHA:79328
HP:0001347	Hyperreflexia	79796	ALG9	OMIM:608776
HP:0001347	Hyperreflexia	54828	BCAS3	OMIM:619641
HP:0001347	Hyperreflexia	122961	ISCA2	OMIM:616370
HP:0001347	Hyperreflexia	8733	GPAA1	ORPHA:529665
HP:0001347	Hyperreflexia	8733	GPAA1	OMIM:617810
HP:0001347	Hyperreflexia	7358	UGDH	OMIM:618792
HP:0001347	Hyperreflexia	10991	SLC38A3	OMIM:619881
HP:0001347	Hyperreflexia	59336	PRDM13	OMIM:619761
HP:0001347	Hyperreflexia	2720	GLB1	OMIM:230650
HP:0001347	Hyperreflexia	56947	MFF	ORPHA:485421
HP:0001347	Hyperreflexia	56947	MFF	OMIM:617086
HP:0001347	Hyperreflexia	773	CACNA1A	OMIM:617106
HP:0001347	Hyperreflexia	773	CACNA1A	ORPHA:2131
HP:0001347	Hyperreflexia	773	CACNA1A	ORPHA:98758
HP:0001347	Hyperreflexia	6621	SNAPC4	OMIM:620515
HP:0001347	Hyperreflexia	22	ABCB7	ORPHA:2802
HP:0001347	Hyperreflexia	22	ABCB7	OMIM:301310
HP:0001347	Hyperreflexia	23400	ATP13A2	OMIM:617225
HP:0001347	Hyperreflexia	23400	ATP13A2	ORPHA:513436
HP:0001347	Hyperreflexia	23400	ATP13A2	OMIM:606693
HP:0001347	Hyperreflexia	146227	BEAN1	ORPHA:217012
HP:0001347	Hyperreflexia	25973	PARS2	OMIM:618437
HP:0001347	Hyperreflexia	79971	WLS	OMIM:619648
HP:0001347	Hyperreflexia	57462	MYORG	OMIM:618317
HP:0001347	Hyperreflexia	11261	CHP1	OMIM:618438
HP:0001347	Hyperreflexia	2729	GCLC	ORPHA:33574
HP:0001347	Hyperreflexia	51163	DBR1	OMIM:620510
HP:0001347	Hyperreflexia	57192	MCOLN1	ORPHA:578
HP:0001347	Hyperreflexia	57192	MCOLN1	OMIM:252650
HP:0001347	Hyperreflexia	23299	BICD2	OMIM:615290
HP:0001347	Hyperreflexia	23299	BICD2	ORPHA:363454
HP:0001347	Hyperreflexia	23556	PIGN	OMIM:614080
HP:0001347	Hyperreflexia	23556	PIGN	ORPHA:280633
HP:0001347	Hyperreflexia	1436	CSF1R	OMIM:221820
HP:0001347	Hyperreflexia	1436	CSF1R	OMIM:618476
HP:0001347	Hyperreflexia	7143	TNR	OMIM:619653
HP:0001347	Hyperreflexia	22906	TRAK1	OMIM:618201
HP:0001347	Hyperreflexia	85365	ALG2	OMIM:607906
HP:0001347	Hyperreflexia	84833	ATP5MK	OMIM:618683
HP:0001347	Hyperreflexia	125988	MICOS13	OMIM:618329
HP:0001347	Hyperreflexia	2678	GGT1	OMIM:231950
HP:0001347	Hyperreflexia	51227	PIGP	OMIM:617599
HP:0001347	Hyperreflexia	51227	PIGP	ORPHA:1934
HP:0001347	Hyperreflexia	10229	COQ7	OMIM:620402
HP:0001347	Hyperreflexia	6683	SPAST	OMIM:182601
HP:0001347	Hyperreflexia	51062	ATL1	OMIM:182600
HP:0001347	Hyperreflexia	51062	ATL1	OMIM:613708
HP:0001347	Hyperreflexia	6843	VAMP1	ORPHA:251282
HP:0001347	Hyperreflexia	6843	VAMP1	OMIM:108600
HP:0001347	Hyperreflexia	5654	HTRA1	OMIM:600142
HP:0001347	Hyperreflexia	10195	ALG3	OMIM:601110
HP:0001347	Hyperreflexia	81570	CLPB	OMIM:616271
HP:0001347	Hyperreflexia	81570	CLPB	ORPHA:445038
HP:0001347	Hyperreflexia	58497	PRUNE1	OMIM:617481
HP:0001347	Hyperreflexia	58497	PRUNE1	ORPHA:544469
HP:0001347	Hyperreflexia	3658	IREB2	OMIM:618451
HP:0001347	Hyperreflexia	3763	KCNJ6	OMIM:614098
HP:0001347	Hyperreflexia	3763	KCNJ6	ORPHA:435628
HP:0001347	Hyperreflexia	22930	RAB3GAP1	OMIM:619420
HP:0001347	Hyperreflexia	22930	RAB3GAP1	OMIM:600118
HP:0001347	Hyperreflexia	2583	B4GALNT1	OMIM:609195
HP:0001347	Hyperreflexia	2583	B4GALNT1	ORPHA:101006
HP:0001347	Hyperreflexia	835	CASP2	OMIM:620653
HP:0001347	Hyperreflexia	5277	PIGA	OMIM:301072
HP:0001347	Hyperreflexia	5277	PIGA	OMIM:300868
HP:0001347	Hyperreflexia	8905	AP1S2	OMIM:304340
HP:0001347	Hyperreflexia	6792	CDKL5	ORPHA:1934
HP:0001347	Hyperreflexia	3736	KCNA1	ORPHA:1934
HP:0001347	Hyperreflexia	3736	KCNA1	OMIM:160120
HP:0001347	Hyperreflexia	9091	PIGQ	ORPHA:1934
HP:0001347	Hyperreflexia	140679	SLC32A1	ORPHA:1934
HP:0001347	Hyperreflexia	2775	GNAO1	ORPHA:1934
HP:0001347	Hyperreflexia	81603	TRIM8	ORPHA:1934
HP:0001347	Hyperreflexia	2902	GRIN1	ORPHA:1934
HP:0001347	Hyperreflexia	2902	GRIN1	OMIM:614254
HP:0001347	Hyperreflexia	79751	SLC25A22	ORPHA:1934
HP:0001347	Hyperreflexia	150094	SIK1	ORPHA:1934
HP:0001347	Hyperreflexia	8573	CASK	ORPHA:1934
HP:0001347	Hyperreflexia	8573	CASK	OMIM:300749
HP:0001347	Hyperreflexia	23312	DMXL2	ORPHA:1934
HP:0001347	Hyperreflexia	2917	GRM7	ORPHA:1934
HP:0001347	Hyperreflexia	2917	GRM7	OMIM:618922
HP:0001347	Hyperreflexia	170302	ARX	ORPHA:1934
HP:0001347	Hyperreflexia	170302	ARX	OMIM:308350
HP:0001347	Hyperreflexia	170302	ARX	OMIM:300215
HP:0001347	Hyperreflexia	11284	PNKP	ORPHA:1934
HP:0001347	Hyperreflexia	6326	SCN2A	ORPHA:1934
HP:0001347	Hyperreflexia	6324	SCN1B	ORPHA:1934
HP:0001347	Hyperreflexia	4761	NEUROD2	ORPHA:1934
HP:0001347	Hyperreflexia	4001	LMNB1	ORPHA:99027
HP:0001347	Hyperreflexia	4001	LMNB1	OMIM:169500
HP:0001347	Hyperreflexia	54808	DYM	ORPHA:239
HP:0001347	Hyperreflexia	410	ARSA	OMIM:250100
HP:0001347	Hyperreflexia	149233	IL23R	ORPHA:117
HP:0001347	Hyperreflexia	6775	STAT4	ORPHA:117
HP:0001347	Hyperreflexia	3586	IL10	ORPHA:117
HP:0001347	Hyperreflexia	4210	MEFV	ORPHA:117
HP:0001347	Hyperreflexia	1230	CCR1	ORPHA:117
HP:0001347	Hyperreflexia	355	FAS	ORPHA:117
HP:0001347	Hyperreflexia	3592	IL12A	ORPHA:117
HP:0001347	Hyperreflexia	101928376	IL12A-AS1	ORPHA:117
HP:0001347	Hyperreflexia	3106	HLA-B	ORPHA:117
HP:0001347	Hyperreflexia	7099	TLR4	ORPHA:117
HP:0001347	Hyperreflexia	3459	IFNGR1	ORPHA:117
HP:0001347	Hyperreflexia	720	C4A	ORPHA:117
HP:0001347	Hyperreflexia	337867	UBAC2	ORPHA:117
HP:0001347	Hyperreflexia	51752	ERAP1	ORPHA:117
HP:0001347	Hyperreflexia	8302	KLRC4	ORPHA:117
HP:0001347	Hyperreflexia	7187	TRAF3	ORPHA:1930
HP:0001347	Hyperreflexia	81622	UNC93B1	ORPHA:1930
HP:0001347	Hyperreflexia	148022	TICAM1	ORPHA:1930
HP:0001347	Hyperreflexia	7098	TLR3	ORPHA:1930
HP:0001347	Hyperreflexia	29110	TBK1	ORPHA:1930
HP:0001347	Hyperreflexia	29110	TBK1	ORPHA:803
HP:0001347	Hyperreflexia	29110	TBK1	OMIM:616439
HP:0001347	Hyperreflexia	23064	SETX	OMIM:602433
HP:0001347	Hyperreflexia	84706	GPT2	OMIM:616281
HP:0001347	Hyperreflexia	84706	GPT2	ORPHA:477673
HP:0001347	Hyperreflexia	23111	SPART	OMIM:275900
HP:0001347	Hyperreflexia	23111	SPART	ORPHA:101000
HP:0001347	Hyperreflexia	8504	PEX3	OMIM:617370
HP:0001347	Hyperreflexia	8504	PEX3	ORPHA:44
HP:0001347	Hyperreflexia	4728	NDUFS8	OMIM:618222
HP:0001347	Hyperreflexia	374291	NDUFS7	OMIM:618224
HP:0001347	Hyperreflexia	126129	CPT1C	OMIM:616282
HP:0001347	Hyperreflexia	126129	CPT1C	ORPHA:444099
HP:0001347	Hyperreflexia	23516	SLC39A14	OMIM:617013
HP:0001347	Hyperreflexia	23516	SLC39A14	ORPHA:521406
HP:0001347	Hyperreflexia	23345	SYNE1	ORPHA:88644
HP:0001347	Hyperreflexia	2495	FTH1	OMIM:620669
HP:0001347	Hyperreflexia	1317	SLC31A1	OMIM:620306
HP:0001347	Hyperreflexia	85476	GFM1	OMIM:609060
HP:0001347	Hyperreflexia	4719	NDUFS1	OMIM:618226
HP:0001347	Hyperreflexia	1798	DPAGT1	OMIM:608093
HP:0001347	Hyperreflexia	4720	NDUFS2	OMIM:618228
HP:0001347	Hyperreflexia	2653	GCSH	OMIM:620423
HP:0001347	Hyperreflexia	4143	MAT1A	OMIM:250850
HP:0001347	Hyperreflexia	7443	VRK1	OMIM:620542
HP:0001347	Hyperreflexia	7443	VRK1	ORPHA:2254
HP:0001347	Hyperreflexia	7443	VRK1	OMIM:607596
HP:0001347	Hyperreflexia	27235	COQ2	OMIM:146500
HP:0001347	Hyperreflexia	959	CD40LG	OMIM:308230
HP:0001347	Hyperreflexia	123606	NIPA1	OMIM:600363
HP:0001347	Hyperreflexia	26275	HIBCH	ORPHA:88639
HP:0001347	Hyperreflexia	6567	SLC16A2	OMIM:300523
HP:0001347	Hyperreflexia	6567	SLC16A2	ORPHA:59
HP:0001347	Hyperreflexia	440193	CCDC88C	OMIM:616053
HP:0001347	Hyperreflexia	440193	CCDC88C	ORPHA:423275
HP:0001347	Hyperreflexia	23114	NFASC	OMIM:618356
HP:0001347	Hyperreflexia	6647	SOD1	OMIM:618598
HP:0001347	Hyperreflexia	6647	SOD1	ORPHA:803
HP:0001347	Hyperreflexia	6647	SOD1	OMIM:105400
HP:0001347	Hyperreflexia	25814	ATXN10	OMIM:603516
HP:0001347	Hyperreflexia	25814	ATXN10	ORPHA:98761
HP:0001347	Hyperreflexia	55182	RNF220	OMIM:619688
HP:0001347	Hyperreflexia	518	ATP5MC3	OMIM:619681
HP:0001347	Hyperreflexia	116461	TSEN15	OMIM:617026
HP:0001347	Hyperreflexia	10978	CLP1	ORPHA:411493
HP:0001347	Hyperreflexia	10978	CLP1	OMIM:615803
HP:0001347	Hyperreflexia	8878	SQSTM1	OMIM:617145
HP:0001347	Hyperreflexia	8878	SQSTM1	ORPHA:275864
HP:0001347	Hyperreflexia	8878	SQSTM1	ORPHA:803
HP:0001347	Hyperreflexia	8878	SQSTM1	OMIM:616437
HP:0001347	Hyperreflexia	443	ASPA	ORPHA:314918
HP:0001347	Hyperreflexia	443	ASPA	ORPHA:314911
HP:0001347	Hyperreflexia	5053	PAH	OMIM:261600
HP:0001347	Hyperreflexia	5053	PAH	ORPHA:79254
HP:0001347	Hyperreflexia	29078	NDUFAF4	OMIM:618237
HP:0001347	Hyperreflexia	157922	CAMSAP1	OMIM:620316
HP:0001347	Hyperreflexia	6833	ABCC8	OMIM:240800
HP:0001347	Hyperreflexia	5660	PSAP	OMIM:611722
HP:0001347	Hyperreflexia	5660	PSAP	ORPHA:206436
HP:0001347	Hyperreflexia	5660	PSAP	OMIM:249900
HP:0001347	Hyperreflexia	25885	POLR1A	OMIM:620675
HP:0001347	Hyperreflexia	2067	ERCC1	OMIM:610758
HP:0001347	Hyperreflexia	9179	AP4M1	OMIM:612936
HP:0001347	Hyperreflexia	9179	AP4M1	ORPHA:280763
HP:0001347	Hyperreflexia	10166	SLC25A15	ORPHA:415
HP:0001347	Hyperreflexia	10166	SLC25A15	OMIM:238970
HP:0001347	Hyperreflexia	55250	ELP2	OMIM:617270
HP:0001347	Hyperreflexia	84340	GFM2	ORPHA:565624
HP:0001347	Hyperreflexia	56915	EXOSC5	OMIM:619576
HP:0001347	Hyperreflexia	51132	RLIM	OMIM:300978
HP:0001347	Hyperreflexia	25915	NDUFAF3	OMIM:618240
HP:0001347	Hyperreflexia	4125	MAN2B1	OMIM:248500
HP:0001347	Hyperreflexia	80224	NUBPL	OMIM:618242
HP:0001347	Hyperreflexia	8260	NAA10	OMIM:300855
HP:0001347	Hyperreflexia	54834	GDAP2	OMIM:618369
HP:0001347	Hyperreflexia	7965	AIMP2	OMIM:618006
HP:0001347	Hyperreflexia	26999	CYFIP2	OMIM:618008
HP:0001347	Hyperreflexia	29920	PYCR2	ORPHA:481152
HP:0001347	Hyperreflexia	29920	PYCR2	OMIM:616420
HP:0001347	Hyperreflexia	29920	PYCR2	ORPHA:2512
HP:0001347	Hyperreflexia	4141	MARS1	OMIM:620323
HP:0001347	Hyperreflexia	23203	PMPCA	OMIM:213200
HP:0001347	Hyperreflexia	549	AUH	OMIM:250950
HP:0001347	Hyperreflexia	25778	DSTYK	ORPHA:101003
HP:0001347	Hyperreflexia	25778	DSTYK	OMIM:270750
HP:0001347	Hyperreflexia	5805	PTS	ORPHA:13
HP:0001347	Hyperreflexia	5805	PTS	OMIM:261640
HP:0001347	Hyperreflexia	6045	RNF2	OMIM:619460
HP:0001347	Hyperreflexia	1781	DYNC1I2	OMIM:618492
HP:0001347	Hyperreflexia	112812	FDX2	OMIM:251900
HP:0001347	Hyperreflexia	29968	PSAT1	ORPHA:284417
HP:0001347	Hyperreflexia	51102	MECR	OMIM:617282
HP:0001347	Hyperreflexia	23258	DENND5A	OMIM:617281
HP:0001347	Hyperreflexia	51324	SPG21	ORPHA:101001
HP:0001347	Hyperreflexia	51324	SPG21	OMIM:248900
HP:0001347	Hyperreflexia	9496	TBX4	ORPHA:261279
HP:0001347	Hyperreflexia	2743	GLRB	ORPHA:3197
HP:0001347	Hyperreflexia	2743	GLRB	OMIM:614619
HP:0001347	Hyperreflexia	2741	GLRA1	ORPHA:3197
HP:0001347	Hyperreflexia	10243	GPHN	ORPHA:3197
HP:0001347	Hyperreflexia	10243	GPHN	OMIM:615501
HP:0001347	Hyperreflexia	84896	ATAD1	ORPHA:3197
HP:0001347	Hyperreflexia	84896	ATAD1	OMIM:618011
HP:0001347	Hyperreflexia	9152	SLC6A5	ORPHA:3197
HP:0001347	Hyperreflexia	5631	PRPS1	OMIM:301835
HP:0001347	Hyperreflexia	6390	SDHB	OMIM:619224
HP:0001347	Hyperreflexia	9758	FRMPD4	OMIM:300983
HP:0001347	Hyperreflexia	80821	DDHD1	ORPHA:101008
HP:0001347	Hyperreflexia	80821	DDHD1	OMIM:609340
HP:0001347	Hyperreflexia	523	ATP6V1A	OMIM:618012
HP:0001347	Hyperreflexia	2071	ERCC3	OMIM:610651
HP:0001347	Hyperreflexia	1200	TPP1	OMIM:609270
HP:0001347	Hyperreflexia	1200	TPP1	ORPHA:284324
HP:0001347	Hyperreflexia	84668	HYCC1	OMIM:610532
HP:0001347	Hyperreflexia	64864	RFX7	OMIM:620330
HP:0001347	Hyperreflexia	50801	KCNK4	OMIM:618381
HP:0001347	Hyperreflexia	11340	EXOSC8	OMIM:616081
HP:0001347	Hyperreflexia	11340	EXOSC8	ORPHA:2254
HP:0001347	Hyperreflexia	55697	VAC14	OMIM:617054
HP:0001347	Hyperreflexia	57498	KIDINS220	OMIM:617296
HP:0001347	Hyperreflexia	9197	SLC33A1	ORPHA:171863
HP:0001347	Hyperreflexia	57003	CCDC47	OMIM:618268
HP:0001347	Hyperreflexia	2033	EP300	OMIM:180849
HP:0001347	Hyperreflexia	1387	CREBBP	OMIM:180849
HP:0001347	Hyperreflexia	9927	MFN2	OMIM:609260
HP:0001347	Hyperreflexia	92935	MARS2	ORPHA:314603
HP:0001347	Hyperreflexia	92935	MARS2	OMIM:611390
HP:0001347	Hyperreflexia	29926	GMPPA	ORPHA:869
HP:0001347	Hyperreflexia	29926	GMPPA	OMIM:615510
HP:0001347	Hyperreflexia	60684	TRAPPC11	ORPHA:869
HP:0001347	Hyperreflexia	8086	AAAS	ORPHA:869
HP:0001347	Hyperreflexia	8086	AAAS	OMIM:231550
HP:0001347	Hyperreflexia	29925	GMPPB	ORPHA:370959
HP:0001347	Hyperreflexia	79147	FKRP	ORPHA:370959
HP:0001347	Hyperreflexia	29954	POMT2	ORPHA:370959
HP:0001347	Hyperreflexia	84197	POMK	ORPHA:370959
HP:0001347	Hyperreflexia	55624	POMGNT1	ORPHA:370959
HP:0001347	Hyperreflexia	10585	POMT1	ORPHA:370959
HP:0001347	Hyperreflexia	7204	TRIO	OMIM:617061
HP:0001347	Hyperreflexia	22978	NT5C2	ORPHA:320396
HP:0001347	Hyperreflexia	22978	NT5C2	OMIM:613162
HP:0001347	Hyperreflexia	2571	GAD1	OMIM:619124
HP:0001347	Hyperreflexia	2760	GM2A	ORPHA:309246
HP:0001347	Hyperreflexia	2760	GM2A	OMIM:272750
HP:0001347	Hyperreflexia	440138	ALG11	ORPHA:280071
HP:0001347	Hyperreflexia	6472	SHMT2	OMIM:619121
HP:0001347	Hyperreflexia	6253	RTN2	OMIM:604805
HP:0001347	Hyperreflexia	6253	RTN2	ORPHA:100993
HP:0001347	Hyperreflexia	5173	PDYN	ORPHA:101108
HP:0001347	Hyperreflexia	5173	PDYN	OMIM:610245
HP:0001347	Hyperreflexia	79143	MBOAT7	OMIM:617188
HP:0001347	Hyperreflexia	79152	FA2H	ORPHA:171629
HP:0001347	Hyperreflexia	79152	FA2H	OMIM:612319
HP:0001347	Hyperreflexia	57038	RARS2	OMIM:611523
HP:0001347	Hyperreflexia	57704	GBA2	ORPHA:320391
HP:0001347	Hyperreflexia	57704	GBA2	OMIM:614409
HP:0001347	Hyperreflexia	2593	GAMT	OMIM:612736
HP:0001347	Hyperreflexia	1759	DNM1	OMIM:620352
HP:0001347	Hyperreflexia	26278	SACS	OMIM:270550
HP:0001347	Hyperreflexia	2617	GARS1	OMIM:600794
HP:0001347	Hyperreflexia	2617	GARS1	ORPHA:139536
HP:0001347	Hyperreflexia	25978	CHMP2B	OMIM:600795
HP:0001347	Hyperreflexia	25978	CHMP2B	ORPHA:275864
HP:0001347	Hyperreflexia	25978	CHMP2B	ORPHA:803
HP:0001347	Hyperreflexia	10084	PQBP1	OMIM:309500
HP:0001347	Hyperreflexia	23636	NUP62	ORPHA:225154
HP:0001347	Hyperreflexia	53371	NUP54	ORPHA:225154
HP:0001347	Hyperreflexia	103	ADAR	ORPHA:225154
HP:0001347	Hyperreflexia	2629	GBA1	ORPHA:2072
HP:0001347	Hyperreflexia	2629	GBA1	OMIM:230900
HP:0001347	Hyperreflexia	6571	SLC18A2	OMIM:618049
HP:0001347	Hyperreflexia	777	CACNA1E	OMIM:618285
HP:0001347	Hyperreflexia	8242	KDM5C	ORPHA:85279
HP:0001347	Hyperreflexia	8242	KDM5C	OMIM:300534
HP:0001347	Hyperreflexia	4668	NAGA	OMIM:609241
HP:0001347	Hyperreflexia	10273	STUB1	ORPHA:412057
HP:0001347	Hyperreflexia	10273	STUB1	OMIM:618093
HP:0001347	Hyperreflexia	10273	STUB1	OMIM:615768
HP:0001347	Hyperreflexia	1968	EIF2S3	ORPHA:85282
HP:0001347	Hyperreflexia	1968	EIF2S3	OMIM:300148
HP:0001347	Hyperreflexia	2581	GALC	ORPHA:206436
HP:0001347	Hyperreflexia	10295	BCKDK	OMIM:614923
HP:0001347	Hyperreflexia	84081	NSRP1	OMIM:620001
HP:0001347	Hyperreflexia	4693	NDP	ORPHA:649
HP:0001347	Hyperreflexia	84153	RNASEH2C	OMIM:610329
HP:0001347	Hyperreflexia	26580	BSCL2	OMIM:270685
HP:0001347	Hyperreflexia	26580	BSCL2	OMIM:615924
HP:0001347	Hyperreflexia	26580	BSCL2	ORPHA:100998
HP:0001347	Hyperreflexia	26580	BSCL2	ORPHA:139536
HP:0001347	Hyperreflexia	26580	BSCL2	ORPHA:363400
HP:0001347	Hyperreflexia	114034	TOE1	ORPHA:284339
HP:0001347	Hyperreflexia	114034	TOE1	OMIM:614969
HP:0001347	Hyperreflexia	9562	MINPP1	ORPHA:284339
HP:0001347	Hyperreflexia	3839	KPNA3	ORPHA:171612
HP:0001347	Hyperreflexia	80704	SLC19A3	ORPHA:263410
HP:0001347	Hyperreflexia	1496	CTNNA2	OMIM:618174
HP:0001347	Hyperreflexia	25793	FBXO7	OMIM:260300
HP:0001347	Hyperreflexia	25793	FBXO7	ORPHA:171695
HP:0001347	Hyperreflexia	221927	BRAT1	OMIM:618056
HP:0001347	Hyperreflexia	221927	BRAT1	OMIM:614498
HP:0001347	Hyperreflexia	55315	SLC29A3	ORPHA:168569
HP:0001347	Hyperreflexia	5663	PSEN1	ORPHA:275864
HP:0001347	Hyperreflexia	2896	GRN	ORPHA:275864
HP:0001347	Hyperreflexia	54664	TMEM106B	ORPHA:275864
HP:0001347	Hyperreflexia	54664	TMEM106B	OMIM:617964
HP:0001347	Hyperreflexia	4137	MAPT	ORPHA:275864
HP:0001347	Hyperreflexia	54209	TREM2	ORPHA:275864
HP:0001347	Hyperreflexia	54209	TREM2	ORPHA:803
HP:0001347	Hyperreflexia	7415	VCP	ORPHA:275864
HP:0001347	Hyperreflexia	7415	VCP	ORPHA:803
HP:0001347	Hyperreflexia	23236	PLCB1	OMIM:613722
HP:0001347	Hyperreflexia	27445	PCLO	OMIM:608027
HP:0001347	Hyperreflexia	283450	HECTD4	OMIM:620250
HP:0001347	Hyperreflexia	90952	ESAM	OMIM:620371
HP:0001347	Hyperreflexia	11113	CIT	OMIM:617090
HP:0001347	Hyperreflexia	11113	CIT	ORPHA:2512
HP:0001347	Hyperreflexia	2643	GCH1	OMIM:128230
HP:0001347	Hyperreflexia	8506	CNTNAP1	OMIM:618186
HP:0001347	Hyperreflexia	5393	EXOSC9	OMIM:618065
HP:0001347	Hyperreflexia	5393	EXOSC9	ORPHA:2254
HP:0001347	Hyperreflexia	9782	MATR3	OMIM:606070
HP:0001347	Hyperreflexia	9782	MATR3	ORPHA:600
HP:0001347	Hyperreflexia	9782	MATR3	ORPHA:803
HP:0001347	Hyperreflexia	83700	JAM3	OMIM:613730
HP:0001347	Hyperreflexia	1119	CHKA	OMIM:620023
HP:0001347	Hyperreflexia	51343	FZR1	OMIM:620145
HP:0001347	Hyperreflexia	4758	NEU1	OMIM:256550
HP:0001347	Hyperreflexia	51218	GLRX5	ORPHA:401866
HP:0001347	Hyperreflexia	51218	GLRX5	OMIM:616859
HP:0001347	Hyperreflexia	51506	UFC1	OMIM:618076
HP:0001347	Hyperreflexia	100996717	NOTCH2NLC	ORPHA:2289
HP:0001347	Hyperreflexia	80055	PGAP1	OMIM:615802
HP:0001347	Hyperreflexia	80055	PGAP1	ORPHA:401820
HP:0001347	Hyperreflexia	2911	GRM1	OMIM:614831
HP:0001347	Hyperreflexia	2911	GRM1	ORPHA:324262
HP:0001347	Hyperreflexia	23431	AP4E1	OMIM:613744
HP:0001347	Hyperreflexia	23431	AP4E1	ORPHA:280763
HP:0001347	Hyperreflexia	547	KIF1A	OMIM:610357
HP:0001347	Hyperreflexia	547	KIF1A	OMIM:614255
HP:0001347	Hyperreflexia	57582	KCNT1	OMIM:614959
HP:0001347	Hyperreflexia	271	AMPD2	OMIM:615809
HP:0001347	Hyperreflexia	271	AMPD2	ORPHA:401805
HP:0001347	Hyperreflexia	271	AMPD2	OMIM:615686
HP:0001347	Hyperreflexia	25839	COG4	ORPHA:263501
HP:0001347	Hyperreflexia	25839	COG4	OMIM:613489
HP:0001347	Hyperreflexia	3735	KARS1	ORPHA:3240
HP:0001347	Hyperreflexia	2892	GRIA3	OMIM:300699
HP:0001347	Hyperreflexia	64324	NSD1	OMIM:117550
HP:0001347	Hyperreflexia	8913	CACNA1G	OMIM:618087
HP:0001347	Hyperreflexia	8913	CACNA1G	OMIM:616795
HP:0001347	Hyperreflexia	64207	IRF2BPL	OMIM:618088
HP:0001347	Hyperreflexia	5119	CHMP1A	OMIM:614961
HP:0001347	Hyperreflexia	340024	SLC6A19	OMIM:234500
HP:0001347	Hyperreflexia	340024	SLC6A19	ORPHA:2116
HP:0001347	Hyperreflexia	6575	SLC20A2	OMIM:213600
HP:0001347	Hyperreflexia	5159	PDGFRB	OMIM:213600
HP:0001347	Hyperreflexia	5155	PDGFB	OMIM:213600
HP:0001347	Hyperreflexia	64087	MCCC2	OMIM:210210
HP:0001347	Hyperreflexia	672	BRCA1	ORPHA:84
HP:0001347	Hyperreflexia	10459	MAD2L2	ORPHA:84
HP:0001347	Hyperreflexia	7516	XRCC2	ORPHA:84
HP:0001347	Hyperreflexia	29089	UBE2T	ORPHA:84
HP:0001347	Hyperreflexia	675	BRCA2	ORPHA:84
HP:0001347	Hyperreflexia	55120	FANCL	ORPHA:84
HP:0001347	Hyperreflexia	2177	FANCD2	ORPHA:84
HP:0001347	Hyperreflexia	2175	FANCA	ORPHA:84
HP:0001347	Hyperreflexia	2187	FANCB	ORPHA:84
HP:0001347	Hyperreflexia	2176	FANCC	ORPHA:84
HP:0001347	Hyperreflexia	2178	FANCE	ORPHA:84
HP:0001347	Hyperreflexia	2188	FANCF	ORPHA:84
HP:0001347	Hyperreflexia	2189	FANCG	ORPHA:84
HP:0001347	Hyperreflexia	5888	RAD51	ORPHA:84
HP:0001347	Hyperreflexia	5889	RAD51C	ORPHA:84
HP:0001347	Hyperreflexia	55159	RFWD3	ORPHA:84
HP:0001347	Hyperreflexia	83990	BRIP1	ORPHA:84
HP:0001347	Hyperreflexia	57697	FANCM	ORPHA:84
HP:0001347	Hyperreflexia	79728	PALB2	ORPHA:84
HP:0001347	Hyperreflexia	84464	SLX4	ORPHA:84
HP:0001347	Hyperreflexia	55215	FANCI	ORPHA:84
HP:0001347	Hyperreflexia	10558	SPTLC1	OMIM:620285
HP:0001347	Hyperreflexia	7276	TTR	OMIM:105210
HP:0001347	Hyperreflexia	1678	TIMM8A	OMIM:304700
HP:0001347	Hyperreflexia	6687	SPG7	OMIM:607259
HP:0001347	Hyperreflexia	9839	ZEB2	ORPHA:261552
HP:0001347	Hyperreflexia	26053	AUTS2	ORPHA:352490
HP:0001347	Hyperreflexia	132158	GLYCTK	OMIM:220120
HP:0001347	Hyperreflexia	65055	REEP1	OMIM:610250
HP:0001347	Hyperreflexia	65055	REEP1	ORPHA:139536
HP:0001347	Hyperreflexia	26090	ABHD12	OMIM:612674
HP:0001347	Hyperreflexia	10352	WARS2	ORPHA:572798
HP:0001347	Hyperreflexia	10352	WARS2	OMIM:617710
HP:0001347	Hyperreflexia	56922	MCCC1	OMIM:210200
HP:0001347	Hyperreflexia	2705	GJB1	ORPHA:1175
HP:0001347	Hyperreflexia	55157	DARS2	OMIM:611105
HP:0001347	Hyperreflexia	113278	SLC52A3	OMIM:211530
HP:0001347	Hyperreflexia	57338	JPH3	ORPHA:98934
HP:0001347	Hyperreflexia	57338	JPH3	OMIM:606438
HP:0001347	Hyperreflexia	3752	KCND3	ORPHA:98772
HP:0001347	Hyperreflexia	3752	KCND3	OMIM:607346
HP:0001347	Hyperreflexia	4204	MECP2	OMIM:300673
HP:0001347	Hyperreflexia	4204	MECP2	OMIM:300055
HP:0001347	Hyperreflexia	2512	FTL	OMIM:606159
HP:0001347	Hyperreflexia	149371	EXOC8	OMIM:619076
HP:0001347	Hyperreflexia	1593	CYP27A1	ORPHA:909
HP:0001347	Hyperreflexia	6804	STX1A	ORPHA:904
HP:0001347	Hyperreflexia	7461	CLIP2	ORPHA:904
HP:0001347	Hyperreflexia	84277	DNAJC30	ORPHA:904
HP:0001347	Hyperreflexia	8468	FKBP6	ORPHA:904
HP:0001347	Hyperreflexia	5982	RFC2	ORPHA:904
HP:0001347	Hyperreflexia	2969	GTF2I	ORPHA:904
HP:0001347	Hyperreflexia	3984	LIMK1	ORPHA:904
HP:0001347	Hyperreflexia	9569	GTF2IRD1	ORPHA:904
HP:0001347	Hyperreflexia	155382	VPS37D	ORPHA:904
HP:0001347	Hyperreflexia	155368	METTL27	ORPHA:904
HP:0001347	Hyperreflexia	114049	BUD23	ORPHA:904
HP:0001347	Hyperreflexia	7458	EIF4H	ORPHA:904
HP:0001347	Hyperreflexia	84163	GTF2IRD2	ORPHA:904
HP:0001347	Hyperreflexia	26608	TBL2	ORPHA:904
HP:0001347	Hyperreflexia	653361	NCF1	ORPHA:904
HP:0001347	Hyperreflexia	135886	TMEM270	ORPHA:904
HP:0001347	Hyperreflexia	9031	BAZ1B	ORPHA:904
HP:0001347	Hyperreflexia	2006	ELN	ORPHA:904
HP:0001347	Hyperreflexia	2006	ELN	OMIM:194050
HP:0001347	Hyperreflexia	23287	AGTPBP1	ORPHA:2254
HP:0001347	Hyperreflexia	51010	EXOSC3	ORPHA:2254
HP:0001347	Hyperreflexia	51010	EXOSC3	OMIM:614678
HP:0001347	Hyperreflexia	91137	SLC25A46	ORPHA:2254
HP:0001347	Hyperreflexia	91137	SLC25A46	OMIM:616505
HP:0001347	Hyperreflexia	6507	SLC1A3	ORPHA:2131
HP:0001347	Hyperreflexia	477	ATP1A2	ORPHA:2131
HP:0001347	Hyperreflexia	478	ATP1A3	ORPHA:2131
HP:0001347	Hyperreflexia	3748	KCNC3	ORPHA:98768
HP:0001347	Hyperreflexia	3748	KCNC3	OMIM:605259
HP:0001347	Hyperreflexia	27286	SRPX2	ORPHA:98889
HP:0001347	Hyperreflexia	3708	ITPR1	ORPHA:98769
HP:0001347	Hyperreflexia	3708	ITPR1	OMIM:117360
HP:0001347	Hyperreflexia	3708	ITPR1	OMIM:606658
HP:0001347	Hyperreflexia	80025	PANK2	OMIM:234200
HP:0001347	Hyperreflexia	80025	PANK2	ORPHA:216873
HP:0001347	Hyperreflexia	80025	PANK2	ORPHA:216866
HP:0001347	Hyperreflexia	11128	POLR3A	ORPHA:447896
HP:0001347	Hyperreflexia	11128	POLR3A	OMIM:607694
HP:0001347	Hyperreflexia	724066	ATXN8	ORPHA:98760
HP:0001347	Hyperreflexia	6315	ATXN8OS	ORPHA:98760
HP:0001347	Hyperreflexia	10613	ERLIN1	ORPHA:401785
HP:0001347	Hyperreflexia	10613	ERLIN1	OMIM:615681
HP:0001347	Hyperreflexia	23503	ZFYVE26	OMIM:270700
HP:0001347	Hyperreflexia	1737	DLAT	OMIM:245348
HP:0001347	Hyperreflexia	3251	HPRT1	OMIM:300322
HP:0001347	Hyperreflexia	3251	HPRT1	ORPHA:79233
HP:0001347	Hyperreflexia	6558	SLC12A2	OMIM:619080
HP:0001347	Hyperreflexia	9440	MED17	OMIM:613668
HP:0001347	Hyperreflexia	51085	MLXIPL	OMIM:194050
HP:0001347	Hyperreflexia	55343	SLC35C1	ORPHA:99843
HP:0001347	Hyperreflexia	55129	ANO10	ORPHA:284289
HP:0001347	Hyperreflexia	22880	MORC2	OMIM:619090
HP:0001347	Hyperreflexia	11117	EMILIN1	OMIM:620080
HP:0001347	Hyperreflexia	4677	NARS1	OMIM:619091
HP:0001347	Hyperreflexia	4677	NARS1	OMIM:619092
HP:0001347	Hyperreflexia	55670	PEX26	ORPHA:44
HP:0001347	Hyperreflexia	5824	PEX19	ORPHA:44
HP:0001347	Hyperreflexia	5828	PEX2	ORPHA:44
HP:0001347	Hyperreflexia	9409	PEX16	ORPHA:44
HP:0001347	Hyperreflexia	5190	PEX6	ORPHA:44
HP:0001347	Hyperreflexia	8799	PEX11B	ORPHA:44
HP:0001347	Hyperreflexia	5830	PEX5	ORPHA:44
HP:0001347	Hyperreflexia	5189	PEX1	ORPHA:44
HP:0001347	Hyperreflexia	5193	PEX12	ORPHA:44
HP:0001347	Hyperreflexia	5194	PEX13	ORPHA:44
HP:0001347	Hyperreflexia	5195	PEX14	ORPHA:44
HP:0001347	Hyperreflexia	546	ATRX	OMIM:309580
HP:0001347	Hyperreflexia	57393	CLTRN	ORPHA:2116
HP:0001347	Hyperreflexia	3329	HSPD1	OMIM:605280
HP:0001347	Hyperreflexia	3329	HSPD1	ORPHA:100994
HP:0001347	Hyperreflexia	3329	HSPD1	OMIM:612233
HP:0001347	Hyperreflexia	1384	CRAT	OMIM:617917
HP:0001347	Hyperreflexia	64116	SLC39A8	ORPHA:468699
HP:0001347	Hyperreflexia	64116	SLC39A8	OMIM:616721
HP:0001347	Hyperreflexia	200403	VWA3B	OMIM:616948
HP:0001347	Hyperreflexia	3178	HNRNPA1	ORPHA:803
HP:0001347	Hyperreflexia	8148	TAF15	ORPHA:803
HP:0001347	Hyperreflexia	5445	PON2	ORPHA:803
HP:0001347	Hyperreflexia	9217	VAPB	ORPHA:803
HP:0001347	Hyperreflexia	5630	PRPH	ORPHA:803
HP:0001347	Hyperreflexia	5630	PRPH	OMIM:105400
HP:0001347	Hyperreflexia	55830	GLT8D1	ORPHA:803
HP:0001347	Hyperreflexia	755	CFAP410	ORPHA:803
HP:0001347	Hyperreflexia	10891	PPARGC1A	ORPHA:803
HP:0001347	Hyperreflexia	10133	OPTN	ORPHA:803
HP:0001347	Hyperreflexia	1639	DCTN1	ORPHA:803
HP:0001347	Hyperreflexia	1639	DCTN1	OMIM:105400
HP:0001347	Hyperreflexia	9896	FIG4	ORPHA:803
HP:0001347	Hyperreflexia	5444	PON1	ORPHA:803
HP:0001347	Hyperreflexia	5446	PON3	ORPHA:803
HP:0001347	Hyperreflexia	4744	NEFH	ORPHA:803
HP:0001347	Hyperreflexia	4744	NEFH	OMIM:105400
HP:0001347	Hyperreflexia	5216	PFN1	ORPHA:803
HP:0001347	Hyperreflexia	283	ANG	ORPHA:803
HP:0001347	Hyperreflexia	23435	TARDBP	ORPHA:803
HP:0001347	Hyperreflexia	29978	UBQLN2	ORPHA:803
HP:0001347	Hyperreflexia	2733	GLE1	ORPHA:803
HP:0001347	Hyperreflexia	2521	FUS	ORPHA:803
HP:0001347	Hyperreflexia	6311	ATXN2	ORPHA:803
HP:0001347	Hyperreflexia	1610	DAO	ORPHA:803
HP:0001347	Hyperreflexia	2066	ERBB4	ORPHA:803
HP:0001347	Hyperreflexia	311	ANXA11	ORPHA:803
HP:0001347	Hyperreflexia	23025	UNC13A	ORPHA:803
HP:0001347	Hyperreflexia	899	CCNF	ORPHA:803
HP:0001347	Hyperreflexia	400916	CHCHD10	ORPHA:803
HP:0001347	Hyperreflexia	6509	SLC1A4	ORPHA:447997
HP:0001347	Hyperreflexia	6509	SLC1A4	OMIM:616657
HP:0001347	Hyperreflexia	6314	ATXN7	ORPHA:94147
HP:0001347	Hyperreflexia	6314	ATXN7	OMIM:164500
HP:0001347	Hyperreflexia	2776	GNAQ	ORPHA:3205
HP:0001347	Hyperreflexia	28962	OSTM1	OMIM:259720
HP:0001347	Hyperreflexia	51271	UBAP1	ORPHA:100993
HP:0001347	Hyperreflexia	7546	ZIC2	OMIM:609637
HP:0001347	Hyperreflexia	51142	CHCHD2	OMIM:616710
HP:0001347	Hyperreflexia	57017	COQ9	OMIM:614654
HP:0001347	Hyperreflexia	80207	OPA3	OMIM:258501
HP:0001347	Hyperreflexia	3897	L1CAM	ORPHA:2466
HP:0001347	Hyperreflexia	57165	GJC2	OMIM:613206
HP:0001347	Hyperreflexia	137492	VPS37A	OMIM:614898
HP:0001347	Hyperreflexia	57410	SCYL1	OMIM:616719
HP:0001347	Hyperreflexia	57410	SCYL1	ORPHA:466794
HP:0001347	Hyperreflexia	219285	SAMD9L	ORPHA:2585
HP:0001347	Hyperreflexia	219285	SAMD9L	OMIM:619806
HP:0001347	Hyperreflexia	1861	TOR1A	OMIM:128100
HP:0001347	Hyperreflexia	4976	OPA1	OMIM:210000
HP:0001347	Hyperreflexia	6310	ATXN1	OMIM:164400
HP:0001347	Hyperreflexia	10075	HUWE1	OMIM:309590
HP:0001347	Hyperreflexia	55906	ZC4H2	OMIM:301041
HP:0001347	Hyperreflexia	23600	AMACR	OMIM:614307
HP:0001347	Hyperreflexia	113235	SLC46A1	ORPHA:90045
HP:0001347	Hyperreflexia	91147	TMEM67	OMIM:216360
HP:0001347	Hyperreflexia	91147	TMEM67	ORPHA:1454
HP:0001347	Hyperreflexia	9131	AIFM1	ORPHA:83629
HP:0001347	Hyperreflexia	55187	VPS13D	OMIM:607317
HP:0001347	Hyperreflexia	5859	QARS1	OMIM:615760
HP:0001347	Hyperreflexia	2782	GNB1	OMIM:616973
HP:0001347	Hyperreflexia	57505	AARS2	OMIM:615889
HP:0001347	Hyperreflexia	91869	RFT1	OMIM:612015
HP:0001347	Hyperreflexia	1644	DDC	OMIM:608643
HP:0001347	Hyperreflexia	54820	NDE1	OMIM:605013
HP:0001347	Hyperreflexia	54820	NDE1	OMIM:614019
HP:0001347	Hyperreflexia	6709	SPTAN1	OMIM:613477
HP:0001347	Hyperreflexia	4915	NTRK2	OMIM:617830
HP:0001347	Hyperreflexia	10342	TFG	OMIM:615658
HP:0001347	Hyperreflexia	100134444	KCNJ18	OMIM:613239
HP:0001347	Hyperreflexia	2138	EYA1	ORPHA:2792
HP:0001347	Hyperreflexia	5075	PAX1	ORPHA:2792
HP:0001347	Hyperreflexia	259232	NALCN	OMIM:615419
HP:0001347	Hyperreflexia	80208	SPG11	OMIM:602099
HP:0001347	Hyperreflexia	100506658	OCLN	ORPHA:1229
HP:0001347	Hyperreflexia	100506658	OCLN	OMIM:251290
HP:0001347	Hyperreflexia	128989	TANGO2	ORPHA:480864
HP:0001347	Hyperreflexia	5582	PRKCG	OMIM:605361
HP:0001347	Hyperreflexia	9420	CYP7B1	OMIM:270800
HP:0001347	Hyperreflexia	56623	INPP5E	ORPHA:1454
HP:0001347	Hyperreflexia	23322	RPGRIP1L	ORPHA:1454
HP:0001347	Hyperreflexia	57545	CC2D2A	ORPHA:1454
HP:0001347	Hyperreflexia	4287	ATXN3	ORPHA:276238
HP:0001347	Hyperreflexia	4287	ATXN3	ORPHA:276244
HP:0001347	Hyperreflexia	4287	ATXN3	ORPHA:276241
HP:0001347	Hyperreflexia	5498	PPOX	ORPHA:79473
HP:0001347	Hyperreflexia	56978	PRDM8	OMIM:616640
HP:0001347	Hyperreflexia	56978	PRDM8	ORPHA:324290
HP:0001347	Hyperreflexia	51501	HIKESHI	OMIM:616881
HP:0001347	Hyperreflexia	81689	ISCA1	OMIM:617613
HP:0001347	Hyperreflexia	22948	CCT5	ORPHA:139578
HP:0001347	Hyperreflexia	22948	CCT5	OMIM:256840
HP:0001347	Hyperreflexia	6697	SPR	ORPHA:70594
HP:0001347	Hyperreflexia	2670	GFAP	ORPHA:363722
HP:0001347	Hyperreflexia	2670	GFAP	ORPHA:363717
HP:0001347	Hyperreflexia	122553	TRAPPC6B	OMIM:617862
HP:0001347	Hyperreflexia	1806	DPYD	ORPHA:1675
HP:0001347	Hyperreflexia	79867	TCTN2	OMIM:616654
HP:0001347	Hyperreflexia	57570	TRMT5	OMIM:616539
HP:0001347	Hyperreflexia	55704	CCDC88A	OMIM:617507
HP:0001347	Hyperreflexia	6785	ELOVL4	OMIM:133190
HP:0001347	Hyperreflexia	617	BCS1L	OMIM:124000
HP:0001347	Hyperreflexia	5456	POU3F4	ORPHA:1435
HP:0001347	Hyperreflexia	5621	PRNP	OMIM:137440
HP:0001347	Hyperreflexia	54888	NSUN2	OMIM:611091
HP:0001347	Hyperreflexia	440	ASNS	OMIM:615574
HP:0001347	Hyperreflexia	4724	NDUFS4	OMIM:252010
HP:0001347	Hyperreflexia	51294	PCDH12	OMIM:251280
HP:0001347	Hyperreflexia	6389	SDHA	OMIM:252011
HP:0001347	Hyperreflexia	8139	GAN	OMIM:256850
HP:0001347	Hyperreflexia	9276	COPB2	ORPHA:2512
HP:0001347	Hyperreflexia	9928	KIF14	ORPHA:2512
HP:0001347	Hyperreflexia	22995	CEP152	ORPHA:2512
HP:0001347	Hyperreflexia	55262	TRAPPC14	ORPHA:2512
HP:0001347	Hyperreflexia	163786	SASS6	ORPHA:2512
HP:0001347	Hyperreflexia	4176	MCM7	ORPHA:2512
HP:0001347	Hyperreflexia	80254	CEP63	ORPHA:2512
HP:0001347	Hyperreflexia	29081	METTL5	ORPHA:2512
HP:0001347	Hyperreflexia	79023	NUP37	ORPHA:2512
HP:0001347	Hyperreflexia	23310	NCAPD3	ORPHA:2512
HP:0001347	Hyperreflexia	6301	SARS1	ORPHA:2512
HP:0001347	Hyperreflexia	55755	CDK5RAP2	ORPHA:2512
HP:0001347	Hyperreflexia	79648	MCPH1	ORPHA:2512
HP:0001347	Hyperreflexia	6491	STIL	ORPHA:2512
HP:0001347	Hyperreflexia	23141	ANKLE2	ORPHA:2512
HP:0001347	Hyperreflexia	259266	ASPM	ORPHA:2512
HP:0001347	Hyperreflexia	7109	TRAPPC10	ORPHA:2512
HP:0001347	Hyperreflexia	7453	WARS1	ORPHA:2512
HP:0001347	Hyperreflexia	1911	PHC1	ORPHA:2512
HP:0001347	Hyperreflexia	1062	CENPE	ORPHA:2512
HP:0001347	Hyperreflexia	6884	TAF13	ORPHA:2512
HP:0001347	Hyperreflexia	9662	CEP135	ORPHA:2512
HP:0001347	Hyperreflexia	57082	KNL1	ORPHA:2512
HP:0001347	Hyperreflexia	1021	CDK6	ORPHA:2512
HP:0001347	Hyperreflexia	51663	ZFR	ORPHA:401840
HP:0001347	Hyperreflexia	2182	ACSL4	OMIM:300387
HP:0001347	Hyperreflexia	51075	TMX2	OMIM:618730
HP:0001347	Hyperreflexia	18	ABAT	OMIM:613163
HP:0001347	Hyperreflexia	10280	SIGMAR1	OMIM:614373
HP:0001347	Hyperreflexia	9907	AP5Z1	ORPHA:306511
HP:0001347	Hyperreflexia	158	ADSL	OMIM:103050
HP:0001347	Hyperreflexia	10466	COG5	ORPHA:263487
HP:0001347	Hyperreflexia	10785	WDR4	OMIM:618346
HP:0001347	Hyperreflexia	4574	MT-TS1	OMIM:220110
HP:0001347	Hyperreflexia	4574	MT-TS1	ORPHA:663
HP:0001347	Hyperreflexia	4570	MT-TN	OMIM:220110
HP:0001347	Hyperreflexia	4570	MT-TN	ORPHA:663
HP:0001347	Hyperreflexia	6834	SURF1	OMIM:220110
HP:0001347	Hyperreflexia	27247	NFU1	OMIM:620938
HP:0001347	Hyperreflexia	6418	SET	OMIM:618106
HP:0001347	Hyperreflexia	6323	SCN1A	OMIM:619317
HP:0001347	Hyperreflexia	9256	TSPOAP1	ORPHA:101150
HP:0001347	Hyperreflexia	7054	TH	ORPHA:101150
HP:0001347	Hyperreflexia	5457	POU4F1	ORPHA:314647
HP:0001347	Hyperreflexia	23261	CAMTA1	ORPHA:314647
HP:0001347	Hyperreflexia	4568	MT-TL2	ORPHA:663
HP:0001347	Hyperreflexia	81790	RNF170	OMIM:619686
HP:0001347	Hyperreflexia	1352	COX10	OMIM:619046
HP:0001347	Hyperreflexia	10157	AASS	ORPHA:2203
HP:0001347	Hyperreflexia	3035	HARS1	ORPHA:488333
HP:0001347	Hyperreflexia	1353	COX11	OMIM:620275
HP:0001347	Hyperreflexia	84679	SLC9A7	OMIM:301024
HP:0001347	Hyperreflexia	4784	NFIX	OMIM:602535
HP:0001347	Hyperreflexia	25929	GEMIN5	OMIM:619333
HP:0001347	Hyperreflexia	2660	MSTN	OMIM:614160
HP:0001347	Hyperreflexia	64834	ELOVL1	OMIM:618527
HP:0001347	Hyperreflexia	8622	PDE8B	OMIM:609161
HP:0001347	Hyperreflexia	3778	KCNMA1	OMIM:609446
HP:0001347	Hyperreflexia	7555	CNBP	ORPHA:606
HP:0001347	Hyperreflexia	9377	COX5A	OMIM:619064
HP:0001347	Hyperreflexia	4697	NDUFA4	OMIM:619065
HP:0001347	Hyperreflexia	833	CARS1	OMIM:618891
HP:0001347	Hyperreflexia	55361	PI4K2A	OMIM:620732
HP:0001347	Hyperreflexia	1267	CNP	OMIM:619071
HP:0001347	Hyperreflexia	56006	SMG9	OMIM:619995
HP:0001347	Hyperreflexia	5063	PAK3	OMIM:300558
HP:0001347	Hyperreflexia	6711	SPTBN1	OMIM:619475
HP:0001347	Hyperreflexia	58494	JAM2	OMIM:618824
HP:0001347	Hyperreflexia	4929	NR4A2	ORPHA:98808
HP:0001347	Hyperreflexia	3615	IMPDH2	ORPHA:98808
HP:0001347	Hyperreflexia	2517	FUCA1	OMIM:230000
HP:0001347	Hyperreflexia	57863	CADM3	OMIM:619519
HP:0001347	Hyperreflexia	91461	PKDCC	OMIM:618821
HP:0001347	Hyperreflexia	90624	LYRM7	OMIM:615838
HP:0001347	Hyperreflexia	166785	MMAA	OMIM:251100
HP:0001347	Hyperreflexia	23137	SMC5	OMIM:620185
HP:0001347	Hyperreflexia	1615	DARS1	OMIM:615281
HP:0001347	Hyperreflexia	51124	IER3IP1	OMIM:614231
HP:0001347	Hyperreflexia	9474	ATG5	OMIM:617584
HP:0001347	Hyperreflexia	10531	PITRM1	OMIM:619405
HP:0001347	Hyperreflexia	54676	GTPBP2	OMIM:617988
HP:0001347	Hyperreflexia	84919	PPP1R15B	OMIM:616817
HP:0001347	Hyperreflexia	84919	PPP1R15B	ORPHA:391408
HP:0001347	Hyperreflexia	93587	TRMT10A	ORPHA:391408
HP:0001347	Hyperreflexia	2799	GNS	OMIM:252940
HP:0001347	Hyperreflexia	6904	TBCD	OMIM:617193
HP:0001347	Hyperreflexia	57479	PRR12	OMIM:619539
HP:0001347	Hyperreflexia	10516	FBLN5	ORPHA:90348
HP:0001347	Hyperreflexia	85021	REPS1	OMIM:617916
HP:0001347	Hyperreflexia	3954	LETM1	OMIM:620089
HP:0001347	Hyperreflexia	64432	MRPS25	OMIM:619025
HP:0001347	Hyperreflexia	587	BCAT2	OMIM:618850
HP:0001347	Hyperreflexia	51645	PPIL1	OMIM:619301
HP:0001347	Hyperreflexia	51362	CDC40	OMIM:619302
HP:0001347	Hyperreflexia	84274	COQ5	OMIM:619028
HP:0001347	Hyperreflexia	10844	TUBGCP2	OMIM:618737
HP:0001347	Hyperreflexia	5091	PC	OMIM:266150
HP:0001347	Hyperreflexia	10367	MICU1	OMIM:615673
HP:0001347	Hyperreflexia	23446	SLC44A1	OMIM:618868
HP:0001347	Hyperreflexia	51091	SEPSECS	OMIM:613811
HP:0001347	Hyperreflexia	253738	EBF3	ORPHA:96148
HP:0001347	Hyperreflexia	3785	KCNQ2	ORPHA:1949
HP:0001347	Hyperreflexia	3786	KCNQ3	ORPHA:1949
HP:0001347	Hyperreflexia	6536	SLC6A9	OMIM:617301
HP:0001347	Hyperreflexia	25782	RAB3GAP2	OMIM:212720
HP:0001347	Hyperreflexia	4952	OCRL	ORPHA:534
HP:0001347	Hyperreflexia	9101	USP8	ORPHA:401795
HP:0001347	Hyperreflexia	100131801	PET100	OMIM:619055
HP:0001347	Hyperreflexia	80746	TSEN2	OMIM:612389
HP:0001347	Hyperreflexia	819	CAMLG	OMIM:620201
HP:0001347	Hyperreflexia	2801	GOLGA2	OMIM:620240
HP:0001347	Hyperreflexia	23028	KDM1A	ORPHA:477993
HP:0001347	Hyperreflexia	4633	MYL2	OMIM:619424
HP:0001347	Hyperreflexia	133686	NADK2	OMIM:616034
HP:0001347	Hyperreflexia	89874	SLC25A21	OMIM:618811
HP:0001347	Hyperreflexia	26834	RNU4-2	OMIM:620851
HP:0001347	Hyperreflexia	78987	CRELD1	OMIM:620771
HP:0001347	Hyperreflexia	3475	IFRD1	ORPHA:98771
HP:0001347	Hyperreflexia	113612	CYP2U1	OMIM:615030
HP:0001347	Hyperreflexia	113612	CYP2U1	ORPHA:320411
HP:0001347	Hyperreflexia	57128	LYRM4	OMIM:615595
HP:0001347	Hyperreflexia	11277	TREX1	OMIM:192315
HP:0001347	Hyperreflexia	7701	ZNF142	OMIM:618425
HP:0001347	Hyperreflexia	5361	PLXNA1	OMIM:619955
HP:0001347	Hyperreflexia	55823	VPS11	OMIM:619637
HP:0001347	Hyperreflexia	51117	COQ4	OMIM:620666
HP:0001347	Hyperreflexia	10060	ABCC9	OMIM:619719
HP:0001347	Hyperreflexia	285362	SUMF1	OMIM:272200
HP:0001347	Hyperreflexia	10939	AFG3L2	ORPHA:101109
HP:0001347	Hyperreflexia	10939	AFG3L2	OMIM:610246
HP:0001347	Hyperreflexia	5010	CLDN11	OMIM:619328
HP:0001347	Hyperreflexia	9215	LARGE1	OMIM:608840
HP:0001347	Hyperreflexia	10667	FARS2	ORPHA:466722
HP:0001347	Hyperreflexia	10667	FARS2	OMIM:617046
HP:0001347	Hyperreflexia	8869	ST3GAL5	OMIM:609056
HP:0001347	Hyperreflexia	4948	OCA2	ORPHA:98794
HP:0001347	Hyperreflexia	8813	DPM1	OMIM:608799
HP:0001347	Hyperreflexia	348	APOE	OMIM:607822
HP:0001347	Hyperreflexia	339855	KY	ORPHA:496689
HP:0001347	Hyperreflexia	22943	DKK1	ORPHA:268882
HP:0001347	Hyperreflexia	51308	REEP2	OMIM:620606
HP:0001347	Hyperreflexia	51308	REEP2	OMIM:615625
HP:0001347	Hyperreflexia	3930	LBR	OMIM:169400
HP:0001347	Hyperreflexia	4556	MT-TE	ORPHA:2596
HP:0001347	Hyperreflexia	823	CAPN1	OMIM:616907
HP:0001347	Hyperreflexia	823	CAPN1	ORPHA:488594
HP:0001347	Hyperreflexia	6872	TAF1	ORPHA:480907
HP:0001347	Hyperreflexia	10943	MSL3	OMIM:301032
HP:0001347	Hyperreflexia	3798	KIF5A	ORPHA:100991
HP:0001347	Hyperreflexia	54903	MKS1	OMIM:617121
HP:0001347	Hyperreflexia	8295	TRRAP	OMIM:618454
HP:0001347	Hyperreflexia	84842	HPDL	OMIM:619027
HP:0001347	Hyperreflexia	11338	U2AF2	OMIM:620535
HP:0001347	Hyperreflexia	2752	GLUL	OMIM:610015
HP:0001347	Hyperreflexia	267	AMFR	OMIM:620379
HP:0001347	Hyperreflexia	9711	RUBCN	OMIM:615705
HP:0001347	Hyperreflexia	10059	DNM1L	ORPHA:330050
HP:0001347	Hyperreflexia	6392	SDHD	ORPHA:3208
HP:0001347	Hyperreflexia	644096	SDHAF1	ORPHA:3208
HP:0001347	Hyperreflexia	4361	MRE11	ORPHA:251347
HP:0001347	Hyperreflexia	54463	RETREG1	OMIM:613115
HP:0001347	Hyperreflexia	131669	UROC1	ORPHA:210128
HP:0001347	Hyperreflexia	8492	PRSS12	OMIM:249500
HP:0001347	Hyperreflexia	4081	MAB21L1	OMIM:618479
HP:0001347	Hyperreflexia	112476	PRRT2	ORPHA:98811
HP:0001347	Hyperreflexia	5376	PMP22	ORPHA:101081
HP:0001347	Hyperreflexia	1938	EEF2	ORPHA:101112
HP:0001347	Hyperreflexia	404672	GTF2H5	ORPHA:33364
HP:0001347	Hyperreflexia	2068	ERCC2	ORPHA:33364
HP:0001347	Hyperreflexia	7737	RNF113A	ORPHA:33364
HP:0001347	Hyperreflexia	136647	MPLKIP	ORPHA:33364
HP:0001347	Hyperreflexia	6897	TARS1	ORPHA:33364
HP:0001347	Hyperreflexia	16	AARS1	ORPHA:33364
HP:0001347	Hyperreflexia	2961	GTF2E2	ORPHA:33364
HP:0001347	Hyperreflexia	8604	SLC25A12	OMIM:612949
HP:0001347	Hyperreflexia	23769	FLRT1	ORPHA:320406
HP:0001347	Hyperreflexia	64837	KLC2	ORPHA:320406
HP:0001347	Hyperreflexia	64837	KLC2	OMIM:609541
HP:0001347	Hyperreflexia	4841	NONO	ORPHA:466791
HP:0001347	Hyperreflexia	1327	COX4I1	OMIM:619060
HP:0001347	Hyperreflexia	23204	ARL6IP1	OMIM:615685
HP:0001347	Hyperreflexia	23204	ARL6IP1	ORPHA:401780
HP:0001347	Hyperreflexia	5238	PGM3	ORPHA:443811
HP:0001347	Hyperreflexia	51604	PIGT	OMIM:615398
HP:0001347	Hyperreflexia	22931	RAB18	OMIM:614222
HP:0001347	Hyperreflexia	2258	FGF13	OMIM:301058
HP:0001347	Hyperreflexia	9338	TCEAL1	OMIM:301094
HP:0001347	Hyperreflexia	9900	SV2A	OMIM:620772
HP:0001347	Hyperreflexia	4897	NRCAM	OMIM:619833
HP:0012480	Abnormal cerebral vein morphology	4488	MSX2	ORPHA:60015
HP:0012480	Abnormal cerebral vein morphology	60529	ALX4	ORPHA:60015
HP:0012480	Abnormal cerebral vein morphology	2050	EPHB4	ORPHA:137667
HP:0012480	Abnormal cerebral vein morphology	2050	EPHB4	OMIM:618196
HP:0012480	Abnormal cerebral vein morphology	5921	RASA1	ORPHA:137667
HP:0012480	Abnormal cerebral vein morphology	1906	EDN1	ORPHA:137888
HP:0012480	Abnormal cerebral vein morphology	5332	PLCB4	ORPHA:137888
HP:0012480	Abnormal cerebral vein morphology	2773	GNAI3	ORPHA:137888
HP:0012480	Abnormal cerebral vein morphology	875	CBS	ORPHA:394
HP:0012480	Abnormal cerebral vein morphology	57688	ZSWIM6	OMIM:603671
HP:0012483	Abnormal alpha granules	8328	GFI1B	OMIM:187900
HP:0012483	Abnormal alpha granules	861	RUNX1	OMIM:601399
HP:0012483	Abnormal alpha granules	23218	NBEAL2	OMIM:139090
HP:0012483	Abnormal alpha granules	64376	IKZF5	OMIM:619130
HP:0012483	Abnormal alpha granules	2623	GATA1	OMIM:314050
HP:0012484	Abnormal dense granules	1130	LYST	OMIM:214500
HP:0012484	Abnormal dense granules	861	RUNX1	OMIM:601399
HP:0012484	Abnormal dense granules	84343	HPS3	OMIM:614072
HP:0012484	Abnormal dense granules	89781	HPS4	OMIM:614073
HP:0012484	Abnormal dense granules	11234	HPS5	OMIM:614074
HP:0012484	Abnormal dense granules	79803	HPS6	OMIM:614075
HP:0012484	Abnormal dense granules	8546	AP3B1	OMIM:608233
HP:0012484	Abnormal dense granules	63915	BLOC1S5	OMIM:619172
HP:0012484	Abnormal dense granules	64376	IKZF5	OMIM:619130
HP:0012486	Myelitis	51284	TLR7	OMIM:301080
HP:0012487	Cerebellopontine angle arachnoid cyst	22827	PUF60	ORPHA:508498
HP:0012488	Intraventricular arachnoid cyst	79971	WLS	OMIM:619648
HP:0007185	Loss of consciousness	1374	CPT1A	ORPHA:156
HP:0007185	Loss of consciousness	3767	KCNJ11	ORPHA:276580
HP:0007185	Loss of consciousness	2639	GCDH	ORPHA:25
HP:0007185	Loss of consciousness	4854	NOTCH3	ORPHA:136
HP:0007185	Loss of consciousness	34	ACADM	ORPHA:42
HP:0007185	Loss of consciousness	100151683	RNU4ATAC	OMIM:210710
HP:0007185	Loss of consciousness	4519	MT-CYB	ORPHA:137675
HP:0007185	Loss of consciousness	162417	NAGS	ORPHA:927
HP:0007185	Loss of consciousness	3753	KCNE1	ORPHA:90647
HP:0007185	Loss of consciousness	3784	KCNQ1	ORPHA:90647
HP:0007185	Loss of consciousness	132158	GLYCTK	ORPHA:941
HP:0007185	Loss of consciousness	80704	SLC19A3	ORPHA:263410
HP:0007185	Loss of consciousness	6927	HNF1A	ORPHA:324575
HP:0007185	Loss of consciousness	51733	UPB1	OMIM:613161
HP:0007185	Loss of consciousness	135	ADORA2A	ORPHA:363549
HP:0007185	Loss of consciousness	4665	NAB2	ORPHA:2126
HP:0007185	Loss of consciousness	6778	STAT6	ORPHA:2126
HP:0007185	Loss of consciousness	4552	MTRR	ORPHA:2169
HP:0007185	Loss of consciousness	7351	UCP2	ORPHA:276556
HP:0007185	Loss of consciousness	6833	ABCC8	ORPHA:276575
HP:0007185	Loss of consciousness	2710	GK	OMIM:307030
HP:0007185	Loss of consciousness	100996717	NOTCH2NLC	OMIM:603472
HP:0007185	Loss of consciousness	7187	TRAF3	ORPHA:1930
HP:0007185	Loss of consciousness	81622	UNC93B1	ORPHA:1930
HP:0007185	Loss of consciousness	148022	TICAM1	ORPHA:1930
HP:0007185	Loss of consciousness	7098	TLR3	ORPHA:1930
HP:0007185	Loss of consciousness	29110	TBK1	ORPHA:1930
HP:0003134	Abnormality of peripheral nerve conduction	79784	MYH14	ORPHA:397744
HP:0003134	Abnormality of peripheral nerve conduction	9131	AIFM1	ORPHA:101078
HP:0003134	Abnormality of peripheral nerve conduction	410	ARSA	ORPHA:309256
HP:0003134	Abnormality of peripheral nerve conduction	410	ARSA	ORPHA:309271
HP:0003134	Abnormality of peripheral nerve conduction	410	ARSA	ORPHA:309263
HP:0003134	Abnormality of peripheral nerve conduction	410	ARSA	OMIM:250100
HP:0003134	Abnormality of peripheral nerve conduction	5660	PSAP	ORPHA:309256
HP:0003134	Abnormality of peripheral nerve conduction	5660	PSAP	OMIM:249900
HP:0003134	Abnormality of peripheral nerve conduction	5660	PSAP	ORPHA:309271
HP:0003134	Abnormality of peripheral nerve conduction	5660	PSAP	ORPHA:206436
HP:0003134	Abnormality of peripheral nerve conduction	5660	PSAP	ORPHA:309263
HP:0003134	Abnormality of peripheral nerve conduction	1593	CYP27A1	ORPHA:909
HP:0003134	Abnormality of peripheral nerve conduction	7415	VCP	ORPHA:435387
HP:0003134	Abnormality of peripheral nerve conduction	7415	VCP	ORPHA:329478
HP:0003134	Abnormality of peripheral nerve conduction	5190	PEX6	OMIM:614863
HP:0003134	Abnormality of peripheral nerve conduction	9782	MATR3	OMIM:606070
HP:0003134	Abnormality of peripheral nerve conduction	9782	MATR3	ORPHA:600
HP:0003134	Abnormality of peripheral nerve conduction	4747	NEFL	ORPHA:99939
HP:0003134	Abnormality of peripheral nerve conduction	4747	NEFL	ORPHA:101085
HP:0003134	Abnormality of peripheral nerve conduction	7167	TPI1	ORPHA:868
HP:0003134	Abnormality of peripheral nerve conduction	10516	FBLN5	OMIM:608895
HP:0003134	Abnormality of peripheral nerve conduction	2581	GALC	ORPHA:206443
HP:0003134	Abnormality of peripheral nerve conduction	2581	GALC	ORPHA:206436
HP:0003134	Abnormality of peripheral nerve conduction	2581	GALC	OMIM:245200
HP:0003134	Abnormality of peripheral nerve conduction	6305	SBF1	OMIM:615284
HP:0003134	Abnormality of peripheral nerve conduction	23114	NFASC	OMIM:618356
HP:0003134	Abnormality of peripheral nerve conduction	25814	ATXN10	OMIM:603516
HP:0003134	Abnormality of peripheral nerve conduction	1785	DNM2	OMIM:615368
HP:0003134	Abnormality of peripheral nerve conduction	56947	MFF	ORPHA:485421
HP:0003134	Abnormality of peripheral nerve conduction	5165	PDK3	ORPHA:352675
HP:0003134	Abnormality of peripheral nerve conduction	9896	FIG4	OMIM:612577
HP:0003134	Abnormality of peripheral nerve conduction	9896	FIG4	OMIM:611228
HP:0003134	Abnormality of peripheral nerve conduction	1130	LYST	OMIM:214500
HP:0003134	Abnormality of peripheral nerve conduction	1130	LYST	ORPHA:167
HP:0003134	Abnormality of peripheral nerve conduction	4758	NEU1	ORPHA:812
HP:0003134	Abnormality of peripheral nerve conduction	3508	IGHMBP2	OMIM:604320
HP:0003134	Abnormality of peripheral nerve conduction	540	ATP7B	OMIM:277900
HP:0003134	Abnormality of peripheral nerve conduction	6663	SOX10	OMIM:609136
HP:0003134	Abnormality of peripheral nerve conduction	9516	LITAF	OMIM:601098
HP:0003134	Abnormality of peripheral nerve conduction	10166	SLC25A15	OMIM:238970
HP:0003134	Abnormality of peripheral nerve conduction	87178	PNPT1	ORPHA:319514
HP:0003134	Abnormality of peripheral nerve conduction	87178	PNPT1	OMIM:614932
HP:0003134	Abnormality of peripheral nerve conduction	219285	SAMD9L	OMIM:159550
HP:0003134	Abnormality of peripheral nerve conduction	84340	GFM2	ORPHA:565624
HP:0003134	Abnormality of peripheral nerve conduction	8560	DEGS1	OMIM:618404
HP:0003134	Abnormality of peripheral nerve conduction	3295	HSD17B4	OMIM:261515
HP:0003134	Abnormality of peripheral nerve conduction	9639	ARHGEF10	OMIM:608236
HP:0003134	Abnormality of peripheral nerve conduction	2200	FBN1	ORPHA:969
HP:0003134	Abnormality of peripheral nerve conduction	4054	LTBP3	ORPHA:969
HP:0003134	Abnormality of peripheral nerve conduction	54332	GDAP1	ORPHA:101097
HP:0003134	Abnormality of peripheral nerve conduction	54332	GDAP1	ORPHA:99948
HP:0003134	Abnormality of peripheral nerve conduction	54332	GDAP1	ORPHA:99944
HP:0003134	Abnormality of peripheral nerve conduction	65125	WNK1	OMIM:201300
HP:0003134	Abnormality of peripheral nerve conduction	54463	RETREG1	OMIM:201300
HP:0003134	Abnormality of peripheral nerve conduction	547	KIF1A	OMIM:201300
HP:0003134	Abnormality of peripheral nerve conduction	26090	ABHD12	OMIM:612674
HP:0003134	Abnormality of peripheral nerve conduction	2071	ERCC3	OMIM:610651
HP:0003134	Abnormality of peripheral nerve conduction	3908	LAMA2	OMIM:618138
HP:0003134	Abnormality of peripheral nerve conduction	5376	PMP22	ORPHA:90658
HP:0003134	Abnormality of peripheral nerve conduction	8803	SUCLA2	ORPHA:1933
HP:0003134	Abnormality of peripheral nerve conduction	9990	SLC12A6	OMIM:218000
HP:0003134	Abnormality of peripheral nerve conduction	4359	MPZ	ORPHA:101082
HP:0003134	Abnormality of peripheral nerve conduction	285362	SUMF1	ORPHA:585
HP:0003134	Abnormality of peripheral nerve conduction	4914	NTRK1	ORPHA:642
HP:0003134	Abnormality of peripheral nerve conduction	5354	PLP1	ORPHA:280234
HP:0003134	Abnormality of peripheral nerve conduction	10342	TFG	ORPHA:431329
HP:0003134	Abnormality of peripheral nerve conduction	51324	SPG21	ORPHA:101001
HP:0003134	Abnormality of peripheral nerve conduction	9150	CTDP1	ORPHA:48431
HP:0003134	Abnormality of peripheral nerve conduction	65250	CPLANE1	ORPHA:65684
HP:0003134	Abnormality of peripheral nerve conduction	57562	CEP126	ORPHA:65684
HP:0003134	Abnormality of peripheral nerve conduction	9342	SNAP29	ORPHA:66631
HP:0003134	Abnormality of peripheral nerve conduction	1161	ERCC8	ORPHA:90324
HP:0003134	Abnormality of peripheral nerve conduction	1161	ERCC8	ORPHA:90321
HP:0003134	Abnormality of peripheral nerve conduction	2074	ERCC6	ORPHA:90324
HP:0003134	Abnormality of peripheral nerve conduction	2074	ERCC6	ORPHA:90321
HP:0003134	Abnormality of peripheral nerve conduction	8398	PLA2G6	ORPHA:35069
HP:0003134	Abnormality of peripheral nerve conduction	100134444	KCNJ18	ORPHA:79102
HP:0003134	Abnormality of peripheral nerve conduction	2556	GABRA3	ORPHA:79102
HP:0003134	Abnormality of peripheral nerve conduction	779	CACNA1S	ORPHA:79102
HP:0003134	Abnormality of peripheral nerve conduction	50846	DHH	ORPHA:168563
HP:0003134	Abnormality of peripheral nerve conduction	2072	ERCC4	ORPHA:90321
HP:0003134	Abnormality of peripheral nerve conduction	11284	PNKP	OMIM:605589
HP:0003134	Abnormality of peripheral nerve conduction	81857	MED25	OMIM:605589
HP:0003134	Abnormality of peripheral nerve conduction	8506	CNTNAP1	OMIM:618186
HP:0003134	Abnormality of peripheral nerve conduction	9927	MFN2	OMIM:609260
HP:0003134	Abnormality of peripheral nerve conduction	9927	MFN2	OMIM:601152
HP:0003134	Abnormality of peripheral nerve conduction	50717	DCAF8	OMIM:610100
HP:0003134	Abnormality of peripheral nerve conduction	3315	HSPB1	OMIM:606595
HP:0003134	Abnormality of peripheral nerve conduction	8898	MTMR2	OMIM:601382
HP:0003134	Abnormality of peripheral nerve conduction	57165	GJC2	OMIM:608804
HP:0003134	Abnormality of peripheral nerve conduction	1959	EGR2	OMIM:607678
HP:0003134	Abnormality of peripheral nerve conduction	1959	EGR2	OMIM:605253
HP:0003134	Abnormality of peripheral nerve conduction	1959	EGR2	OMIM:145900
HP:0003134	Abnormality of peripheral nerve conduction	56704	JPH1	OMIM:607831
HP:0003134	Abnormality of peripheral nerve conduction	23095	KIF1B	OMIM:118210
HP:0003134	Abnormality of peripheral nerve conduction	90678	LRSAM1	OMIM:614436
HP:0003134	Abnormality of peripheral nerve conduction	3710	ITPR3	OMIM:620111
HP:0003134	Abnormality of peripheral nerve conduction	8565	YARS1	OMIM:608323
HP:0003134	Abnormality of peripheral nerve conduction	26278	SACS	OMIM:270550
HP:0003134	Abnormality of peripheral nerve conduction	100996717	NOTCH2NLC	OMIM:603472
HP:0003134	Abnormality of peripheral nerve conduction	5428	POLG	ORPHA:298
HP:0003134	Abnormality of peripheral nerve conduction	1890	TYMP	ORPHA:298
HP:0003134	Abnormality of peripheral nerve conduction	3980	LIG3	ORPHA:298
HP:0003134	Abnormality of peripheral nerve conduction	50484	RRM2B	ORPHA:298
HP:0003134	Abnormality of peripheral nerve conduction	23250	ATP11A	OMIM:619851
HP:0003134	Abnormality of peripheral nerve conduction	23321	TRIM2	OMIM:615490
HP:0003134	Abnormality of peripheral nerve conduction	57449	PLEKHG5	OMIM:615376
HP:0003134	Abnormality of peripheral nerve conduction	81545	FBXO38	OMIM:615575
HP:0003134	Abnormality of peripheral nerve conduction	259232	NALCN	OMIM:615419
HP:0003134	Abnormality of peripheral nerve conduction	79628	SH3TC2	OMIM:601596
HP:0003134	Abnormality of peripheral nerve conduction	79628	SH3TC2	ORPHA:99949
HP:0003134	Abnormality of peripheral nerve conduction	5611	DNAJC3	OMIM:616192
HP:0003134	Abnormality of peripheral nerve conduction	51651	PTRH2	ORPHA:456312
HP:0003134	Abnormality of peripheral nerve conduction	84842	HPDL	OMIM:619026
HP:0003134	Abnormality of peripheral nerve conduction	57716	PRX	OMIM:614895
HP:0003134	Abnormality of peripheral nerve conduction	57716	PRX	OMIM:145900
HP:0003134	Abnormality of peripheral nerve conduction	16	AARS1	OMIM:613287
HP:0003134	Abnormality of peripheral nerve conduction	128637	TBC1D20	OMIM:615663
HP:0003134	Abnormality of peripheral nerve conduction	55775	TDP1	OMIM:607250
HP:0003134	Abnormality of peripheral nerve conduction	84668	HYCC1	OMIM:610532
HP:0003134	Abnormality of peripheral nerve conduction	6342	SCP2	OMIM:613724
HP:0003134	Abnormality of peripheral nerve conduction	121512	FGD4	OMIM:609311
HP:0003134	Abnormality of peripheral nerve conduction	55768	NGLY1	OMIM:615273
HP:0003134	Abnormality of peripheral nerve conduction	91574	MTRFR	ORPHA:320375
HP:0003134	Abnormality of peripheral nerve conduction	10730	YME1L1	OMIM:617302
HP:0003134	Abnormality of peripheral nerve conduction	10397	NDRG1	ORPHA:99950
HP:0003134	Abnormality of peripheral nerve conduction	7384	UQCRC1	OMIM:619279
HP:0003134	Abnormality of peripheral nerve conduction	2395	FXN	OMIM:229300
HP:0003134	Abnormality of peripheral nerve conduction	6652	SORD	OMIM:618912
HP:0003134	Abnormality of peripheral nerve conduction	22948	CCT5	OMIM:256840
HP:0003134	Abnormality of peripheral nerve conduction	22880	MORC2	OMIM:616688
HP:0003134	Abnormality of peripheral nerve conduction	23230	VPS13A	ORPHA:2388
HP:0003134	Abnormality of peripheral nerve conduction	8449	DHX16	OMIM:618733
HP:0003134	Abnormality of peripheral nerve conduction	81790	RNF170	OMIM:608984
HP:0003134	Abnormality of peripheral nerve conduction	4000	LMNA	ORPHA:98856
HP:0003134	Abnormality of peripheral nerve conduction	26353	HSPB8	OMIM:608673
HP:0003134	Abnormality of peripheral nerve conduction	10558	SPTLC1	ORPHA:36386
HP:0003134	Abnormality of peripheral nerve conduction	25923	ATL3	ORPHA:36386
HP:0003134	Abnormality of peripheral nerve conduction	9517	SPTLC2	ORPHA:36386
HP:0003134	Abnormality of peripheral nerve conduction	51062	ATL1	ORPHA:36386
HP:0003134	Abnormality of peripheral nerve conduction	59341	TRPV4	OMIM:606071
HP:0003134	Abnormality of peripheral nerve conduction	5981	RFC1	OMIM:614575
HP:0003134	Abnormality of peripheral nerve conduction	81846	SBF2	ORPHA:99956
HP:0003134	Abnormality of peripheral nerve conduction	4358	MPV17	OMIM:618400
HP:0003134	Abnormality of peripheral nerve conduction	3098	HK1	ORPHA:99953
HP:0003134	Abnormality of peripheral nerve conduction	127833	SYT2	OMIM:616040
HP:0003134	Abnormality of peripheral nerve conduction	10049	DNAJB6	OMIM:603511
HP:0003134	Abnormality of peripheral nerve conduction	23064	SETX	OMIM:602433
HP:0003134	Abnormality of peripheral nerve conduction	7879	RAB7A	OMIM:600882
HP:0003134	Abnormality of peripheral nerve conduction	10280	SIGMAR1	OMIM:605726
HP:0003134	Abnormality of peripheral nerve conduction	11117	EMILIN1	OMIM:620080
HP:0003134	Abnormality of peripheral nerve conduction	6843	VAMP1	OMIM:618323
HP:0003134	Abnormality of peripheral nerve conduction	5375	PMP2	OMIM:618279
HP:0003134	Abnormality of peripheral nerve conduction	7317	UBA1	OMIM:301830
HP:0003134	Abnormality of peripheral nerve conduction	26580	BSCL2	OMIM:619112
HP:0003134	Abnormality of peripheral nerve conduction	6709	SPTAN1	OMIM:620528
HP:0003134	Abnormality of peripheral nerve conduction	57863	CADM3	OMIM:619519
HP:0003134	Abnormality of peripheral nerve conduction	3735	KARS1	OMIM:613641
HP:0003134	Abnormality of peripheral nerve conduction	93627	TBCK	OMIM:616900
HP:0003134	Abnormality of peripheral nerve conduction	57679	ALS2	OMIM:606353
HP:0003134	Abnormality of peripheral nerve conduction	5631	PRPS1	ORPHA:99014
HP:0003134	Abnormality of peripheral nerve conduction	3425	IDUA	ORPHA:93474
HP:0003134	Abnormality of peripheral nerve conduction	3425	IDUA	ORPHA:93473
HP:0003134	Abnormality of peripheral nerve conduction	3425	IDUA	ORPHA:93476
HP:0003134	Abnormality of peripheral nerve conduction	10935	PRDX3	OMIM:619862
HP:0003134	Abnormality of peripheral nerve conduction	2705	GJB1	ORPHA:101075
HP:0003134	Abnormality of peripheral nerve conduction	6335	SCN9A	OMIM:243000
HP:0003134	Abnormality of peripheral nerve conduction	10743	RAI1	OMIM:182290
HP:0003134	Abnormality of peripheral nerve conduction	1291	COL6A1	OMIM:158810
HP:0003134	Abnormality of peripheral nerve conduction	6310	ATXN1	ORPHA:98755
HP:0003134	Abnormality of peripheral nerve conduction	84466	MEGF10	OMIM:614399
HP:0003134	Abnormality of peripheral nerve conduction	60482	SLC5A7	OMIM:158580
HP:0003134	Abnormality of peripheral nerve conduction	2617	GARS1	ORPHA:139536
HP:0003134	Abnormality of peripheral nerve conduction	65055	REEP1	ORPHA:139536
HP:0003134	Abnormality of peripheral nerve conduction	400916	CHCHD10	ORPHA:276435
HP:0003134	Abnormality of peripheral nerve conduction	28982	FLVCR1	ORPHA:88628
HP:0007187	Focal lissencephaly	2879	GPX4	OMIM:250220
HP:0000238	Hydrocephalus	1718	DHCR24	OMIM:602398
HP:0000238	Hydrocephalus	1718	DHCR24	ORPHA:35107
HP:0000238	Hydrocephalus	29899	GPSM2	OMIM:604213
HP:0000238	Hydrocephalus	2218	FKTN	ORPHA:272
HP:0000238	Hydrocephalus	2218	FKTN	ORPHA:588
HP:0000238	Hydrocephalus	2218	FKTN	OMIM:236670
HP:0000238	Hydrocephalus	2218	FKTN	ORPHA:899
HP:0000238	Hydrocephalus	2218	FKTN	OMIM:253800
HP:0000238	Hydrocephalus	4524	MTHFR	ORPHA:395
HP:0000238	Hydrocephalus	26235	FBXL4	OMIM:615471
HP:0000238	Hydrocephalus	51256	TBC1D7	OMIM:248000
HP:0000238	Hydrocephalus	8294	H4C9	OMIM:619951
HP:0000238	Hydrocephalus	6873	TAF2	OMIM:615599
HP:0000238	Hydrocephalus	6873	TAF2	ORPHA:397951
HP:0000238	Hydrocephalus	4897	NRCAM	OMIM:619833
HP:0000238	Hydrocephalus	2261	FGFR3	ORPHA:53271
HP:0000238	Hydrocephalus	2261	FGFR3	ORPHA:1860
HP:0000238	Hydrocephalus	2261	FGFR3	OMIM:616482
HP:0000238	Hydrocephalus	2261	FGFR3	ORPHA:15
HP:0000238	Hydrocephalus	2261	FGFR3	ORPHA:93274
HP:0000238	Hydrocephalus	2261	FGFR3	ORPHA:93262
HP:0000238	Hydrocephalus	2261	FGFR3	OMIM:100800
HP:0000238	Hydrocephalus	2261	FGFR3	OMIM:187600
HP:0000238	Hydrocephalus	2261	FGFR3	OMIM:612247
HP:0000238	Hydrocephalus	2737	GLI3	ORPHA:380
HP:0000238	Hydrocephalus	2737	GLI3	OMIM:175700
HP:0000238	Hydrocephalus	1630	DCC	OMIM:617542
HP:0000238	Hydrocephalus	23322	RPGRIP1L	ORPHA:220497
HP:0000238	Hydrocephalus	23322	RPGRIP1L	ORPHA:564
HP:0000238	Hydrocephalus	23322	RPGRIP1L	ORPHA:1454
HP:0000238	Hydrocephalus	4867	NPHP1	ORPHA:220497
HP:0000238	Hydrocephalus	65062	TMEM237	ORPHA:220497
HP:0000238	Hydrocephalus	65062	TMEM237	ORPHA:475
HP:0000238	Hydrocephalus	65062	TMEM237	ORPHA:564
HP:0000238	Hydrocephalus	65062	TMEM237	OMIM:614424
HP:0000238	Hydrocephalus	65062	TMEM237	ORPHA:2318
HP:0000238	Hydrocephalus	23426	GRIP1	OMIM:617667
HP:0000238	Hydrocephalus	2670	GFAP	OMIM:203450
HP:0000238	Hydrocephalus	2670	GFAP	ORPHA:363717
HP:0000238	Hydrocephalus	54806	AHI1	ORPHA:220493
HP:0000238	Hydrocephalus	54806	AHI1	ORPHA:475
HP:0000238	Hydrocephalus	56623	INPP5E	ORPHA:220493
HP:0000238	Hydrocephalus	56623	INPP5E	ORPHA:475
HP:0000238	Hydrocephalus	56623	INPP5E	ORPHA:1454
HP:0000238	Hydrocephalus	153241	CEP120	ORPHA:220493
HP:0000238	Hydrocephalus	153241	CEP120	ORPHA:475
HP:0000238	Hydrocephalus	54903	MKS1	ORPHA:220493
HP:0000238	Hydrocephalus	54903	MKS1	ORPHA:475
HP:0000238	Hydrocephalus	54903	MKS1	OMIM:249000
HP:0000238	Hydrocephalus	54903	MKS1	ORPHA:564
HP:0000238	Hydrocephalus	95681	CEP41	ORPHA:220493
HP:0000238	Hydrocephalus	95681	CEP41	ORPHA:475
HP:0000238	Hydrocephalus	5728	PTEN	ORPHA:2969
HP:0000238	Hydrocephalus	5728	PTEN	ORPHA:65285
HP:0000238	Hydrocephalus	84197	POMK	OMIM:615249
HP:0000238	Hydrocephalus	84197	POMK	ORPHA:899
HP:0000238	Hydrocephalus	84197	POMK	ORPHA:370959
HP:0000238	Hydrocephalus	55650	PIGV	OMIM:239300
HP:0000238	Hydrocephalus	65082	VPS33A	ORPHA:505248
HP:0000238	Hydrocephalus	284058	KANSL1	ORPHA:363958
HP:0000238	Hydrocephalus	284058	KANSL1	ORPHA:363965
HP:0000238	Hydrocephalus	25885	POLR1A	OMIM:616462
HP:0000238	Hydrocephalus	4853	NOTCH2	OMIM:102500
HP:0000238	Hydrocephalus	4853	NOTCH2	ORPHA:955
HP:0000238	Hydrocephalus	56172	ANKH	OMIM:123000
HP:0000238	Hydrocephalus	9968	MED12	ORPHA:93932
HP:0000238	Hydrocephalus	9968	MED12	OMIM:305450
HP:0000238	Hydrocephalus	9326	ZNHIT3	ORPHA:2836
HP:0000238	Hydrocephalus	3339	HSPG2	ORPHA:1865
HP:0000238	Hydrocephalus	9401	RECQL4	OMIM:218600
HP:0000238	Hydrocephalus	4763	NF1	ORPHA:363700
HP:0000238	Hydrocephalus	4763	NF1	OMIM:162200
HP:0000238	Hydrocephalus	5528	PPP2R5D	OMIM:616355
HP:0000238	Hydrocephalus	8036	SHOC2	ORPHA:2701
HP:0000238	Hydrocephalus	5500	PPP1CB	ORPHA:2701
HP:0000238	Hydrocephalus	28514	DLL1	ORPHA:93926
HP:0000238	Hydrocephalus	28514	DLL1	ORPHA:93924
HP:0000238	Hydrocephalus	28514	DLL1	ORPHA:93925
HP:0000238	Hydrocephalus	28514	DLL1	OMIM:618709
HP:0000238	Hydrocephalus	28514	DLL1	ORPHA:220386
HP:0000238	Hydrocephalus	2253	FGF8	ORPHA:93926
HP:0000238	Hydrocephalus	2253	FGF8	ORPHA:93924
HP:0000238	Hydrocephalus	2253	FGF8	ORPHA:93925
HP:0000238	Hydrocephalus	2253	FGF8	ORPHA:220386
HP:0000238	Hydrocephalus	6496	SIX3	ORPHA:93926
HP:0000238	Hydrocephalus	6496	SIX3	ORPHA:93924
HP:0000238	Hydrocephalus	6496	SIX3	ORPHA:93925
HP:0000238	Hydrocephalus	6496	SIX3	ORPHA:220386
HP:0000238	Hydrocephalus	7050	TGIF1	ORPHA:93926
HP:0000238	Hydrocephalus	7050	TGIF1	ORPHA:93924
HP:0000238	Hydrocephalus	7050	TGIF1	ORPHA:93925
HP:0000238	Hydrocephalus	7050	TGIF1	ORPHA:220386
HP:0000238	Hydrocephalus	4838	NODAL	ORPHA:93926
HP:0000238	Hydrocephalus	4838	NODAL	ORPHA:93924
HP:0000238	Hydrocephalus	4838	NODAL	ORPHA:93925
HP:0000238	Hydrocephalus	4838	NODAL	ORPHA:220386
HP:0000238	Hydrocephalus	6469	SHH	ORPHA:93926
HP:0000238	Hydrocephalus	6469	SHH	ORPHA:93924
HP:0000238	Hydrocephalus	6469	SHH	ORPHA:93925
HP:0000238	Hydrocephalus	6469	SHH	ORPHA:220386
HP:0000238	Hydrocephalus	7546	ZIC2	ORPHA:93926
HP:0000238	Hydrocephalus	7546	ZIC2	ORPHA:93924
HP:0000238	Hydrocephalus	7546	ZIC2	ORPHA:93925
HP:0000238	Hydrocephalus	7546	ZIC2	OMIM:609637
HP:0000238	Hydrocephalus	7546	ZIC2	ORPHA:220386
HP:0000238	Hydrocephalus	6491	STIL	ORPHA:93926
HP:0000238	Hydrocephalus	6491	STIL	ORPHA:93924
HP:0000238	Hydrocephalus	6491	STIL	ORPHA:93925
HP:0000238	Hydrocephalus	6491	STIL	ORPHA:220386
HP:0000238	Hydrocephalus	2619	GAS1	ORPHA:93926
HP:0000238	Hydrocephalus	2619	GAS1	ORPHA:93924
HP:0000238	Hydrocephalus	2619	GAS1	ORPHA:93925
HP:0000238	Hydrocephalus	2619	GAS1	ORPHA:220386
HP:0000238	Hydrocephalus	84976	DISP1	ORPHA:93926
HP:0000238	Hydrocephalus	84976	DISP1	ORPHA:93924
HP:0000238	Hydrocephalus	84976	DISP1	ORPHA:93925
HP:0000238	Hydrocephalus	84976	DISP1	ORPHA:220386
HP:0000238	Hydrocephalus	2736	GLI2	ORPHA:93926
HP:0000238	Hydrocephalus	2736	GLI2	ORPHA:93924
HP:0000238	Hydrocephalus	2736	GLI2	ORPHA:93925
HP:0000238	Hydrocephalus	2736	GLI2	OMIM:610829
HP:0000238	Hydrocephalus	2736	GLI2	ORPHA:220386
HP:0000238	Hydrocephalus	8928	FOXH1	ORPHA:93926
HP:0000238	Hydrocephalus	8928	FOXH1	ORPHA:93924
HP:0000238	Hydrocephalus	8928	FOXH1	ORPHA:93925
HP:0000238	Hydrocephalus	8928	FOXH1	ORPHA:220386
HP:0000238	Hydrocephalus	6997	CRIPTO	ORPHA:93926
HP:0000238	Hydrocephalus	6997	CRIPTO	ORPHA:93924
HP:0000238	Hydrocephalus	6997	CRIPTO	ORPHA:93925
HP:0000238	Hydrocephalus	6997	CRIPTO	ORPHA:220386
HP:0000238	Hydrocephalus	5727	PTCH1	ORPHA:93926
HP:0000238	Hydrocephalus	5727	PTCH1	ORPHA:93924
HP:0000238	Hydrocephalus	5727	PTCH1	ORPHA:93925
HP:0000238	Hydrocephalus	5727	PTCH1	OMIM:610828
HP:0000238	Hydrocephalus	5727	PTCH1	ORPHA:377
HP:0000238	Hydrocephalus	5727	PTCH1	OMIM:109400
HP:0000238	Hydrocephalus	5727	PTCH1	ORPHA:77301
HP:0000238	Hydrocephalus	5727	PTCH1	ORPHA:220386
HP:0000238	Hydrocephalus	50937	CDON	ORPHA:93926
HP:0000238	Hydrocephalus	50937	CDON	ORPHA:93924
HP:0000238	Hydrocephalus	50937	CDON	ORPHA:93925
HP:0000238	Hydrocephalus	50937	CDON	ORPHA:220386
HP:0000238	Hydrocephalus	2260	FGFR1	ORPHA:93924
HP:0000238	Hydrocephalus	2260	FGFR1	OMIM:101600
HP:0000238	Hydrocephalus	2260	FGFR1	OMIM:613001
HP:0000238	Hydrocephalus	2260	FGFR1	ORPHA:220386
HP:0000238	Hydrocephalus	23007	PLCH1	ORPHA:93925
HP:0000238	Hydrocephalus	23007	PLCH1	OMIM:619895
HP:0000238	Hydrocephalus	10735	STAG2	ORPHA:93925
HP:0000238	Hydrocephalus	10735	STAG2	ORPHA:220386
HP:0000238	Hydrocephalus	3039	HBA1	ORPHA:163596
HP:0000238	Hydrocephalus	3040	HBA2	ORPHA:163596
HP:0000238	Hydrocephalus	63901	FAM111A	OMIM:602361
HP:0000238	Hydrocephalus	2316	FLNA	ORPHA:90652
HP:0000238	Hydrocephalus	2316	FLNA	OMIM:304120
HP:0000238	Hydrocephalus	1499	CTNNB1	ORPHA:54595
HP:0000238	Hydrocephalus	673	BRAF	ORPHA:54595
HP:0000238	Hydrocephalus	673	BRAF	ORPHA:626
HP:0000238	Hydrocephalus	673	BRAF	OMIM:115150
HP:0000238	Hydrocephalus	673	BRAF	ORPHA:1340
HP:0000238	Hydrocephalus	9851	KIAA0753	ORPHA:475
HP:0000238	Hydrocephalus	5147	PDE6D	ORPHA:475
HP:0000238	Hydrocephalus	79600	TCTN1	ORPHA:475
HP:0000238	Hydrocephalus	79600	TCTN1	ORPHA:564
HP:0000238	Hydrocephalus	79848	CSPP1	ORPHA:475
HP:0000238	Hydrocephalus	79848	CSPP1	ORPHA:564
HP:0000238	Hydrocephalus	8481	OFD1	ORPHA:475
HP:0000238	Hydrocephalus	8481	OFD1	ORPHA:244
HP:0000238	Hydrocephalus	8481	OFD1	OMIM:311200
HP:0000238	Hydrocephalus	51684	SUFU	ORPHA:475
HP:0000238	Hydrocephalus	51684	SUFU	ORPHA:377
HP:0000238	Hydrocephalus	51684	SUFU	OMIM:620343
HP:0000238	Hydrocephalus	51684	SUFU	ORPHA:2495
HP:0000238	Hydrocephalus	65250	CPLANE1	ORPHA:475
HP:0000238	Hydrocephalus	91147	TMEM67	ORPHA:475
HP:0000238	Hydrocephalus	91147	TMEM67	ORPHA:564
HP:0000238	Hydrocephalus	91147	TMEM67	OMIM:607361
HP:0000238	Hydrocephalus	91147	TMEM67	ORPHA:1454
HP:0000238	Hydrocephalus	200894	ARL13B	ORPHA:475
HP:0000238	Hydrocephalus	9731	CEP104	ORPHA:475
HP:0000238	Hydrocephalus	219844	HYLS1	ORPHA:475
HP:0000238	Hydrocephalus	219844	HYLS1	ORPHA:2189
HP:0000238	Hydrocephalus	23247	KATNIP	ORPHA:475
HP:0000238	Hydrocephalus	219854	TMEM218	ORPHA:475
HP:0000238	Hydrocephalus	9786	KIAA0586	ORPHA:475
HP:0000238	Hydrocephalus	9786	KIAA0586	OMIM:616546
HP:0000238	Hydrocephalus	26123	TCTN3	ORPHA:475
HP:0000238	Hydrocephalus	26123	TCTN3	ORPHA:564
HP:0000238	Hydrocephalus	79867	TCTN2	ORPHA:475
HP:0000238	Hydrocephalus	79867	TCTN2	ORPHA:564
HP:0000238	Hydrocephalus	80776	B9D2	ORPHA:475
HP:0000238	Hydrocephalus	80776	B9D2	ORPHA:564
HP:0000238	Hydrocephalus	10464	PIBF1	ORPHA:475
HP:0000238	Hydrocephalus	80210	ARMC9	ORPHA:475
HP:0000238	Hydrocephalus	23116	TOGARAM1	ORPHA:475
HP:0000238	Hydrocephalus	25776	CBY1	ORPHA:475
HP:0000238	Hydrocephalus	27077	B9D1	ORPHA:475
HP:0000238	Hydrocephalus	27077	B9D1	ORPHA:564
HP:0000238	Hydrocephalus	403	ARL3	ORPHA:475
HP:0000238	Hydrocephalus	80173	IFT74	ORPHA:475
HP:0000238	Hydrocephalus	3981	LIG4	ORPHA:235
HP:0000238	Hydrocephalus	54888	NSUN2	ORPHA:235
HP:0000238	Hydrocephalus	5518	PPP2R1A	OMIM:616362
HP:0000238	Hydrocephalus	5518	PPP2R1A	ORPHA:457284
HP:0000238	Hydrocephalus	7157	TP53	ORPHA:2807
HP:0000238	Hydrocephalus	7157	TP53	OMIM:260500
HP:0000238	Hydrocephalus	5034	P4HB	OMIM:112240
HP:0000238	Hydrocephalus	55621	TRMT1	OMIM:618302
HP:0000238	Hydrocephalus	1182	CLCN3	OMIM:619512
HP:0000238	Hydrocephalus	54539	NDUFB11	OMIM:309801
HP:0000238	Hydrocephalus	54539	NDUFB11	ORPHA:2556
HP:0000238	Hydrocephalus	1349	COX7B	OMIM:309801
HP:0000238	Hydrocephalus	1349	COX7B	ORPHA:2556
HP:0000238	Hydrocephalus	3052	HCCS	OMIM:309801
HP:0000238	Hydrocephalus	3052	HCCS	ORPHA:2556
HP:0000238	Hydrocephalus	55699	IARS2	OMIM:616007
HP:0000238	Hydrocephalus	4613	MYCN	OMIM:620748
HP:0000238	Hydrocephalus	148789	B3GALNT2	ORPHA:588
HP:0000238	Hydrocephalus	148789	B3GALNT2	OMIM:615181
HP:0000238	Hydrocephalus	148789	B3GALNT2	ORPHA:899
HP:0000238	Hydrocephalus	29925	GMPPB	ORPHA:588
HP:0000238	Hydrocephalus	29925	GMPPB	ORPHA:370959
HP:0000238	Hydrocephalus	79147	FKRP	ORPHA:588
HP:0000238	Hydrocephalus	79147	FKRP	OMIM:236670
HP:0000238	Hydrocephalus	79147	FKRP	ORPHA:899
HP:0000238	Hydrocephalus	79147	FKRP	ORPHA:370959
HP:0000238	Hydrocephalus	79147	FKRP	OMIM:613153
HP:0000238	Hydrocephalus	9215	LARGE1	ORPHA:588
HP:0000238	Hydrocephalus	9215	LARGE1	OMIM:236670
HP:0000238	Hydrocephalus	9215	LARGE1	ORPHA:899
HP:0000238	Hydrocephalus	9215	LARGE1	OMIM:613154
HP:0000238	Hydrocephalus	29954	POMT2	ORPHA:588
HP:0000238	Hydrocephalus	29954	POMT2	OMIM:236670
HP:0000238	Hydrocephalus	29954	POMT2	ORPHA:899
HP:0000238	Hydrocephalus	29954	POMT2	ORPHA:370959
HP:0000238	Hydrocephalus	29954	POMT2	OMIM:613150
HP:0000238	Hydrocephalus	729920	CRPPA	ORPHA:588
HP:0000238	Hydrocephalus	729920	CRPPA	ORPHA:899
HP:0000238	Hydrocephalus	729920	CRPPA	OMIM:614643
HP:0000238	Hydrocephalus	55624	POMGNT1	ORPHA:588
HP:0000238	Hydrocephalus	55624	POMGNT1	ORPHA:899
HP:0000238	Hydrocephalus	55624	POMGNT1	ORPHA:370959
HP:0000238	Hydrocephalus	55624	POMGNT1	OMIM:253280
HP:0000238	Hydrocephalus	10585	POMT1	ORPHA:588
HP:0000238	Hydrocephalus	10585	POMT1	OMIM:236670
HP:0000238	Hydrocephalus	10585	POMT1	ORPHA:899
HP:0000238	Hydrocephalus	10585	POMT1	ORPHA:370959
HP:0000238	Hydrocephalus	10585	POMT1	OMIM:613155
HP:0000238	Hydrocephalus	285362	SUMF1	OMIM:272200
HP:0000238	Hydrocephalus	285362	SUMF1	ORPHA:585
HP:0000238	Hydrocephalus	7547	ZIC3	OMIM:314390
HP:0000238	Hydrocephalus	7547	ZIC3	OMIM:306955
HP:0000238	Hydrocephalus	2187	FANCB	OMIM:314390
HP:0000238	Hydrocephalus	2187	FANCB	OMIM:300514
HP:0000238	Hydrocephalus	2187	FANCB	ORPHA:84
HP:0000238	Hydrocephalus	2187	FANCB	ORPHA:3412
HP:0000238	Hydrocephalus	30813	VSX1	OMIM:614195
HP:0000238	Hydrocephalus	11041	B4GAT1	OMIM:615287
HP:0000238	Hydrocephalus	11041	B4GAT1	ORPHA:899
HP:0000238	Hydrocephalus	2263	FGFR2	OMIM:123790
HP:0000238	Hydrocephalus	2263	FGFR2	OMIM:101200
HP:0000238	Hydrocephalus	2263	FGFR2	OMIM:123500
HP:0000238	Hydrocephalus	2263	FGFR2	ORPHA:207
HP:0000238	Hydrocephalus	2263	FGFR2	OMIM:101600
HP:0000238	Hydrocephalus	2263	FGFR2	ORPHA:87
HP:0000238	Hydrocephalus	2263	FGFR2	ORPHA:93259
HP:0000238	Hydrocephalus	2263	FGFR2	OMIM:207410
HP:0000238	Hydrocephalus	2263	FGFR2	ORPHA:1555
HP:0000238	Hydrocephalus	2683	B4GALT1	ORPHA:79332
HP:0000238	Hydrocephalus	2683	B4GALT1	OMIM:607091
HP:0000238	Hydrocephalus	8643	PTCH2	ORPHA:377
HP:0000238	Hydrocephalus	54941	RNF125	OMIM:616260
HP:0000238	Hydrocephalus	55120	FANCL	OMIM:614083
HP:0000238	Hydrocephalus	55120	FANCL	ORPHA:84
HP:0000238	Hydrocephalus	79989	IFT56	OMIM:619534
HP:0000238	Hydrocephalus	3423	IDS	OMIM:309900
HP:0000238	Hydrocephalus	284111	SLC13A5	ORPHA:1946
HP:0000238	Hydrocephalus	79641	ROGDI	ORPHA:1946
HP:0000238	Hydrocephalus	286204	CRB2	OMIM:219730
HP:0000238	Hydrocephalus	25981	DNAH1	ORPHA:244
HP:0000238	Hydrocephalus	115948	ODAD3	ORPHA:244
HP:0000238	Hydrocephalus	54768	HYDIN	ORPHA:244
HP:0000238	Hydrocephalus	352909	DNAAF3	ORPHA:244
HP:0000238	Hydrocephalus	27148	STK36	ORPHA:244
HP:0000238	Hydrocephalus	51314	NME8	ORPHA:244
HP:0000238	Hydrocephalus	92749	DRC1	ORPHA:244
HP:0000238	Hydrocephalus	54970	TTC12	ORPHA:244
HP:0000238	Hydrocephalus	152110	NEK10	ORPHA:244
HP:0000238	Hydrocephalus	2302	FOXJ1	ORPHA:244
HP:0000238	Hydrocephalus	221421	RSPH9	ORPHA:244
HP:0000238	Hydrocephalus	85478	CCDC65	ORPHA:244
HP:0000238	Hydrocephalus	55036	CCDC40	ORPHA:244
HP:0000238	Hydrocephalus	51364	ZMYND10	ORPHA:244
HP:0000238	Hydrocephalus	64446	DNAI2	ORPHA:244
HP:0000238	Hydrocephalus	8382	NME5	ORPHA:244
HP:0000238	Hydrocephalus	6674	SPAG1	ORPHA:244
HP:0000238	Hydrocephalus	83544	DNAL1	ORPHA:244
HP:0000238	Hydrocephalus	89765	RSPH1	ORPHA:244
HP:0000238	Hydrocephalus	83538	ODAD4	ORPHA:244
HP:0000238	Hydrocephalus	200373	CFAP221	ORPHA:244
HP:0000238	Hydrocephalus	374407	DNAJB13	ORPHA:244
HP:0000238	Hydrocephalus	55172	DNAAF2	ORPHA:244
HP:0000238	Hydrocephalus	161582	DNAAF4	ORPHA:244
HP:0000238	Hydrocephalus	2622	GAS8	ORPHA:244
HP:0000238	Hydrocephalus	23639	DNAAF11	ORPHA:244
HP:0000238	Hydrocephalus	27019	DNAI1	ORPHA:244
HP:0000238	Hydrocephalus	345895	RSPH4A	ORPHA:244
HP:0000238	Hydrocephalus	54919	DNAAF5	ORPHA:244
HP:0000238	Hydrocephalus	6103	RPGR	ORPHA:244
HP:0000238	Hydrocephalus	85452	CFAP74	ORPHA:244
HP:0000238	Hydrocephalus	93233	ODAD1	ORPHA:244
HP:0000238	Hydrocephalus	55130	ODAD2	ORPHA:244
HP:0000238	Hydrocephalus	1767	DNAH5	ORPHA:244
HP:0000238	Hydrocephalus	83861	RSPH3	ORPHA:244
HP:0000238	Hydrocephalus	345643	MCIDAS	ORPHA:244
HP:0000238	Hydrocephalus	56683	CFAP298	ORPHA:244
HP:0000238	Hydrocephalus	79925	SPEF2	ORPHA:244
HP:0000238	Hydrocephalus	10309	CCNO	ORPHA:244
HP:0000238	Hydrocephalus	115399	LRRC56	ORPHA:244
HP:0000238	Hydrocephalus	139212	DNAAF6	ORPHA:244
HP:0000238	Hydrocephalus	123872	DNAAF1	ORPHA:244
HP:0000238	Hydrocephalus	85016	CFAP300	ORPHA:244
HP:0000238	Hydrocephalus	339829	CCDC39	ORPHA:244
HP:0000238	Hydrocephalus	8701	DNAH11	ORPHA:244
HP:0000238	Hydrocephalus	1770	DNAH9	ORPHA:244
HP:0000238	Hydrocephalus	246176	GAS2L2	ORPHA:244
HP:0000238	Hydrocephalus	81839	VANGL1	OMIM:600145
HP:0000238	Hydrocephalus	81839	VANGL1	OMIM:182940
HP:0000238	Hydrocephalus	3897	L1CAM	OMIM:304100
HP:0000238	Hydrocephalus	3897	L1CAM	OMIM:307000
HP:0000238	Hydrocephalus	3897	L1CAM	ORPHA:2182
HP:0000238	Hydrocephalus	3897	L1CAM	OMIM:303350
HP:0000238	Hydrocephalus	51645	PPIL1	OMIM:619301
HP:0000238	Hydrocephalus	51362	CDC40	OMIM:619302
HP:0000238	Hydrocephalus	5881	RAC3	OMIM:618577
HP:0000238	Hydrocephalus	133686	NADK2	OMIM:616034
HP:0000238	Hydrocephalus	5888	RAD51	OMIM:617244
HP:0000238	Hydrocephalus	5888	RAD51	ORPHA:84
HP:0000238	Hydrocephalus	7046	TGFBR1	OMIM:609192
HP:0000238	Hydrocephalus	835	CASP2	OMIM:620653
HP:0000238	Hydrocephalus	140679	SLC32A1	OMIM:620774
HP:0000238	Hydrocephalus	8905	AP1S2	OMIM:304340
HP:0000238	Hydrocephalus	8905	AP1S2	ORPHA:85335
HP:0000238	Hydrocephalus	1801	DPH1	ORPHA:459061
HP:0000238	Hydrocephalus	1802	DPH2	ORPHA:459061
HP:0000238	Hydrocephalus	3912	LAMB1	OMIM:615191
HP:0000238	Hydrocephalus	3912	LAMB1	ORPHA:352682
HP:0000238	Hydrocephalus	51422	PRKAG2	OMIM:261740
HP:0000238	Hydrocephalus	6091	ROBO1	OMIM:620305
HP:0000238	Hydrocephalus	51259	TMEM216	OMIM:608091
HP:0000238	Hydrocephalus	51259	TMEM216	ORPHA:564
HP:0000238	Hydrocephalus	51259	TMEM216	ORPHA:2318
HP:0000238	Hydrocephalus	84320	ACBD6	OMIM:620785
HP:0000238	Hydrocephalus	6347	CCL2	OMIM:182940
HP:0000238	Hydrocephalus	80199	FUZ	OMIM:182940
HP:0000238	Hydrocephalus	6862	TBXT	OMIM:182940
HP:0000238	Hydrocephalus	57216	VANGL2	OMIM:182940
HP:0000238	Hydrocephalus	10312	TCIRG1	ORPHA:667
HP:0000238	Hydrocephalus	10312	TCIRG1	OMIM:259700
HP:0000238	Hydrocephalus	1186	CLCN7	ORPHA:667
HP:0000238	Hydrocephalus	1186	CLCN7	ORPHA:53
HP:0000238	Hydrocephalus	29887	SNX10	ORPHA:667
HP:0000238	Hydrocephalus	8600	TNFSF11	ORPHA:667
HP:0000238	Hydrocephalus	8600	TNFSF11	OMIM:259710
HP:0000238	Hydrocephalus	128869	PIGU	OMIM:618590
HP:0000238	Hydrocephalus	4967	OGDH	ORPHA:31
HP:0000238	Hydrocephalus	6299	SALL1	OMIM:107480
HP:0000238	Hydrocephalus	1436	CSF1R	OMIM:618476
HP:0000238	Hydrocephalus	9871	SEC24D	OMIM:616294
HP:0000238	Hydrocephalus	79868	ALG13	OMIM:300884
HP:0000238	Hydrocephalus	8882	ZPR1	OMIM:619321
HP:0000238	Hydrocephalus	7248	TSC1	ORPHA:538
HP:0000238	Hydrocephalus	7249	TSC2	ORPHA:538
HP:0000238	Hydrocephalus	84892	POMGNT2	ORPHA:899
HP:0000238	Hydrocephalus	84892	POMGNT2	OMIM:614830
HP:0000238	Hydrocephalus	1282	COL4A1	ORPHA:899
HP:0000238	Hydrocephalus	1282	COL4A1	OMIM:175780
HP:0000238	Hydrocephalus	10329	RXYLT1	ORPHA:899
HP:0000238	Hydrocephalus	1605	DAG1	ORPHA:899
HP:0000238	Hydrocephalus	1605	DAG1	OMIM:616538
HP:0000238	Hydrocephalus	79068	FTO	OMIM:612938
HP:0000238	Hydrocephalus	56975	FAM20C	OMIM:259775
HP:0000238	Hydrocephalus	4784	NFIX	OMIM:602535
HP:0000238	Hydrocephalus	57551	TAOK1	OMIM:619575
HP:0000238	Hydrocephalus	340665	CYP26C1	ORPHA:398189
HP:0000238	Hydrocephalus	5831	PYCR1	OMIM:612940
HP:0000238	Hydrocephalus	2077	ERF	ORPHA:207
HP:0000238	Hydrocephalus	1312	COMT	ORPHA:567
HP:0000238	Hydrocephalus	221037	JMJD1C	ORPHA:567
HP:0000238	Hydrocephalus	2812	GP1BB	ORPHA:567
HP:0000238	Hydrocephalus	6239	RREB1	ORPHA:567
HP:0000238	Hydrocephalus	6899	TBX1	ORPHA:567
HP:0000238	Hydrocephalus	7290	HIRA	ORPHA:567
HP:0000238	Hydrocephalus	9632	SEC24C	ORPHA:567
HP:0000238	Hydrocephalus	7353	UFD1	ORPHA:567
HP:0000238	Hydrocephalus	421	ARVCF	ORPHA:567
HP:0000238	Hydrocephalus	84314	TMEM107	ORPHA:564
HP:0000238	Hydrocephalus	57096	RPGRIP1	ORPHA:564
HP:0000238	Hydrocephalus	80184	CEP290	ORPHA:564
HP:0000238	Hydrocephalus	80184	CEP290	OMIM:611134
HP:0000238	Hydrocephalus	80184	CEP290	ORPHA:2318
HP:0000238	Hydrocephalus	57545	CC2D2A	ORPHA:564
HP:0000238	Hydrocephalus	57545	CC2D2A	OMIM:619111
HP:0000238	Hydrocephalus	57545	CC2D2A	ORPHA:2318
HP:0000238	Hydrocephalus	57545	CC2D2A	ORPHA:1454
HP:0000238	Hydrocephalus	57545	CC2D2A	OMIM:612284
HP:0000238	Hydrocephalus	79583	TMEM231	ORPHA:564
HP:0000238	Hydrocephalus	79583	TMEM231	ORPHA:2318
HP:0000238	Hydrocephalus	79770	TXNDC15	ORPHA:564
HP:0000238	Hydrocephalus	23258	DENND5A	OMIM:617281
HP:0000238	Hydrocephalus	10013	HDAC6	OMIM:300863
HP:0000238	Hydrocephalus	10013	HDAC6	ORPHA:163966
HP:0000238	Hydrocephalus	2009	EML1	OMIM:600348
HP:0000238	Hydrocephalus	5573	PRKAR1A	OMIM:101800
HP:0000238	Hydrocephalus	84065	TMEM222	OMIM:619470
HP:0000238	Hydrocephalus	54809	SAMD9	OMIM:617053
HP:0000238	Hydrocephalus	145173	B3GLCT	OMIM:261540
HP:0000238	Hydrocephalus	145173	B3GLCT	ORPHA:709
HP:0000238	Hydrocephalus	6711	SPTBN1	OMIM:619475
HP:0000238	Hydrocephalus	6608	SMO	OMIM:241800
HP:0000238	Hydrocephalus	6608	SMO	ORPHA:2495
HP:0000238	Hydrocephalus	6660	SOX5	ORPHA:626
HP:0000238	Hydrocephalus	238	ALK	ORPHA:626
HP:0000238	Hydrocephalus	9839	ZEB2	ORPHA:626
HP:0000238	Hydrocephalus	4893	NRAS	ORPHA:626
HP:0000238	Hydrocephalus	4893	NRAS	OMIM:249400
HP:0000238	Hydrocephalus	5894	RAF1	ORPHA:626
HP:0000238	Hydrocephalus	4534	MTM1	OMIM:310400
HP:0000238	Hydrocephalus	10682	EBP	OMIM:300960
HP:0000238	Hydrocephalus	10682	EBP	ORPHA:401973
HP:0000238	Hydrocephalus	5290	PIK3CA	OMIM:602501
HP:0000238	Hydrocephalus	5290	PIK3CA	ORPHA:60040
HP:0000238	Hydrocephalus	5290	PIK3CA	ORPHA:2495
HP:0000238	Hydrocephalus	55640	FLVCR2	OMIM:225790
HP:0000238	Hydrocephalus	3516	RBPJ	ORPHA:974
HP:0000238	Hydrocephalus	4851	NOTCH1	ORPHA:974
HP:0000238	Hydrocephalus	57514	ARHGAP31	ORPHA:974
HP:0000238	Hydrocephalus	57572	DOCK6	ORPHA:974
HP:0000238	Hydrocephalus	57572	DOCK6	OMIM:614219
HP:0000238	Hydrocephalus	285203	EOGT	ORPHA:974
HP:0000238	Hydrocephalus	54567	DLL4	ORPHA:974
HP:0000238	Hydrocephalus	23387	SIK3	OMIM:618162
HP:0000238	Hydrocephalus	2177	FANCD2	OMIM:227646
HP:0000238	Hydrocephalus	2177	FANCD2	ORPHA:84
HP:0000238	Hydrocephalus	26137	ZBTB20	ORPHA:3042
HP:0000238	Hydrocephalus	55898	UNC45A	OMIM:619377
HP:0000238	Hydrocephalus	2629	GBA1	ORPHA:2072
HP:0000238	Hydrocephalus	2629	GBA1	OMIM:231005
HP:0000238	Hydrocephalus	2629	GBA1	ORPHA:85212
HP:0000238	Hydrocephalus	51360	MBTPS2	ORPHA:85284
HP:0000238	Hydrocephalus	2581	GALC	ORPHA:206436
HP:0000238	Hydrocephalus	2581	GALC	OMIM:245200
HP:0000238	Hydrocephalus	5660	PSAP	ORPHA:206436
HP:0000238	Hydrocephalus	1376	CPT2	ORPHA:228308
HP:0000238	Hydrocephalus	9897	WASHC5	ORPHA:7
HP:0000238	Hydrocephalus	9897	WASHC5	OMIM:220210
HP:0000238	Hydrocephalus	28952	CCDC22	ORPHA:7
HP:0000238	Hydrocephalus	57020	VPS35L	ORPHA:7
HP:0000238	Hydrocephalus	56896	DPYSL5	ORPHA:7
HP:0000238	Hydrocephalus	6913	TBX15	OMIM:260660
HP:0000238	Hydrocephalus	1496	CTNNA2	OMIM:618174
HP:0000238	Hydrocephalus	55315	SLC29A3	ORPHA:168569
HP:0000238	Hydrocephalus	374654	KIF7	ORPHA:2189
HP:0000238	Hydrocephalus	374654	KIF7	OMIM:614120
HP:0000238	Hydrocephalus	10535	RNASEH2A	OMIM:610333
HP:0000238	Hydrocephalus	4771	NF2	ORPHA:637
HP:0000238	Hydrocephalus	4771	NF2	ORPHA:2495
HP:0000238	Hydrocephalus	90952	ESAM	OMIM:620371
HP:0000238	Hydrocephalus	8085	KMT2D	OMIM:147920
HP:0000238	Hydrocephalus	8085	KMT2D	ORPHA:2322
HP:0000238	Hydrocephalus	7403	KDM6A	OMIM:147920
HP:0000238	Hydrocephalus	7403	KDM6A	ORPHA:2322
HP:0000238	Hydrocephalus	10262	SF3B4	OMIM:154400
HP:0000238	Hydrocephalus	894	CCND2	ORPHA:83473
HP:0000238	Hydrocephalus	894	CCND2	OMIM:615938
HP:0000238	Hydrocephalus	5296	PIK3R2	ORPHA:83473
HP:0000238	Hydrocephalus	5296	PIK3R2	OMIM:603387
HP:0000238	Hydrocephalus	10000	AKT3	ORPHA:83473
HP:0000238	Hydrocephalus	10000	AKT3	OMIM:615937
HP:0000238	Hydrocephalus	10992	SF3B2	OMIM:164210
HP:0000238	Hydrocephalus	80144	FRAS1	OMIM:219000
HP:0000238	Hydrocephalus	5447	POR	ORPHA:95699
HP:0000238	Hydrocephalus	5447	POR	OMIM:207410
HP:0000238	Hydrocephalus	501	ALDH7A1	OMIM:266100
HP:0000238	Hydrocephalus	4552	MTRR	ORPHA:2169
HP:0000238	Hydrocephalus	22858	CILK1	OMIM:612651
HP:0000238	Hydrocephalus	6662	SOX9	OMIM:114290
HP:0000238	Hydrocephalus	29072	SETD2	OMIM:620157
HP:0000238	Hydrocephalus	29072	SETD2	OMIM:620155
HP:0000238	Hydrocephalus	26153	KIF26A	OMIM:620156
HP:0000238	Hydrocephalus	8792	TNFRSF11A	OMIM:612301
HP:0000238	Hydrocephalus	93627	TBCK	OMIM:616900
HP:0000238	Hydrocephalus	114034	TOE1	OMIM:614969
HP:0000238	Hydrocephalus	672	BRCA1	ORPHA:84
HP:0000238	Hydrocephalus	10459	MAD2L2	ORPHA:84
HP:0000238	Hydrocephalus	7516	XRCC2	ORPHA:84
HP:0000238	Hydrocephalus	29089	UBE2T	ORPHA:84
HP:0000238	Hydrocephalus	675	BRCA2	ORPHA:84
HP:0000238	Hydrocephalus	2175	FANCA	ORPHA:84
HP:0000238	Hydrocephalus	2176	FANCC	ORPHA:84
HP:0000238	Hydrocephalus	2178	FANCE	ORPHA:84
HP:0000238	Hydrocephalus	2188	FANCF	ORPHA:84
HP:0000238	Hydrocephalus	2189	FANCG	ORPHA:84
HP:0000238	Hydrocephalus	5889	RAD51C	ORPHA:84
HP:0000238	Hydrocephalus	55159	RFWD3	ORPHA:84
HP:0000238	Hydrocephalus	83990	BRIP1	ORPHA:84
HP:0000238	Hydrocephalus	57697	FANCM	ORPHA:84
HP:0000238	Hydrocephalus	79728	PALB2	ORPHA:84
HP:0000238	Hydrocephalus	84464	SLX4	ORPHA:84
HP:0000238	Hydrocephalus	2072	ERCC4	ORPHA:84
HP:0000238	Hydrocephalus	2072	ERCC4	ORPHA:220295
HP:0000238	Hydrocephalus	55215	FANCI	ORPHA:84
HP:0000238	Hydrocephalus	83550	GPR101	ORPHA:963
HP:0000238	Hydrocephalus	9049	AIP	ORPHA:963
HP:0000238	Hydrocephalus	5340	PLG	ORPHA:722
HP:0000238	Hydrocephalus	5340	PLG	OMIM:217090
HP:0000238	Hydrocephalus	1717	DHCR7	OMIM:270400
HP:0000238	Hydrocephalus	9896	FIG4	ORPHA:3472
HP:0000238	Hydrocephalus	55697	VAC14	ORPHA:3472
HP:0000238	Hydrocephalus	3425	IDUA	OMIM:607014
HP:0000238	Hydrocephalus	3425	IDUA	ORPHA:93473
HP:0000238	Hydrocephalus	7468	NSD2	OMIM:194190
HP:0000238	Hydrocephalus	10815	CPLX1	OMIM:194190
HP:0000238	Hydrocephalus	1487	CTBP1	OMIM:194190
HP:0000238	Hydrocephalus	53834	FGFRL1	OMIM:194190
HP:0000238	Hydrocephalus	3954	LETM1	OMIM:194190
HP:0000238	Hydrocephalus	3265	HRAS	OMIM:218040
HP:0000238	Hydrocephalus	2200	FBN1	OMIM:616914
HP:0000238	Hydrocephalus	3192	HNRNPU	ORPHA:238769
HP:0000238	Hydrocephalus	4593	MUSK	OMIM:208150
HP:0000238	Hydrocephalus	5063	PAK3	OMIM:300558
HP:0000238	Hydrocephalus	64327	LMBR1	ORPHA:2378
HP:0000238	Hydrocephalus	4519	MT-CYB	ORPHA:137675
HP:0000238	Hydrocephalus	8314	BAP1	ORPHA:2495
HP:0000238	Hydrocephalus	6598	SMARCB1	ORPHA:2495
HP:0000238	Hydrocephalus	6598	SMARCB1	ORPHA:99966
HP:0000238	Hydrocephalus	5155	PDGFB	ORPHA:2495
HP:0000238	Hydrocephalus	84231	TRAF7	ORPHA:2495
HP:0000238	Hydrocephalus	207	AKT1	ORPHA:2495
HP:0000238	Hydrocephalus	7015	TERT	ORPHA:2495
HP:0000238	Hydrocephalus	6605	SMARCE1	ORPHA:2495
HP:0000238	Hydrocephalus	11128	POLR3A	OMIM:264090
HP:0000238	Hydrocephalus	11128	POLR3A	ORPHA:3455
HP:0000238	Hydrocephalus	4094	MAF	ORPHA:1272
HP:0000238	Hydrocephalus	2050	EPHB4	ORPHA:137667
HP:0000238	Hydrocephalus	5921	RASA1	ORPHA:137667
HP:0000238	Hydrocephalus	3662	IRF4	ORPHA:3452
HP:0000238	Hydrocephalus	6949	TCOF1	OMIM:154500
HP:0000238	Hydrocephalus	440193	CCDC88C	OMIM:236600
HP:0000238	Hydrocephalus	7048	TGFBR2	OMIM:610168
HP:0000238	Hydrocephalus	5824	PEX19	OMIM:614886
HP:0000238	Hydrocephalus	701	BUB1B	OMIM:257300
HP:0000238	Hydrocephalus	2776	GNAQ	ORPHA:3205
HP:0000238	Hydrocephalus	28962	OSTM1	OMIM:259720
HP:0000238	Hydrocephalus	157570	ESCO2	OMIM:268300
HP:0000238	Hydrocephalus	84667	HES7	OMIM:613686
HP:0000238	Hydrocephalus	51134	CEP83	OMIM:615862
HP:0000238	Hydrocephalus	2719	GPC3	OMIM:312870
HP:0000238	Hydrocephalus	2239	GPC4	OMIM:312870
HP:0000238	Hydrocephalus	63895	PIEZO2	ORPHA:2461
HP:0000238	Hydrocephalus	9927	MFN2	ORPHA:99947
HP:0000238	Hydrocephalus	579	NKX3-2	OMIM:613330
HP:0000238	Hydrocephalus	100151683	RNU4ATAC	OMIM:210710
HP:0000238	Hydrocephalus	26160	IFT172	OMIM:615630
HP:0000238	Hydrocephalus	7473	WNT3	ORPHA:3301
HP:0000238	Hydrocephalus	7473	WNT3	OMIM:273395
HP:0000238	Hydrocephalus	340419	RSPO2	ORPHA:3301
HP:0000238	Hydrocephalus	9496	TBX4	ORPHA:3301
HP:0000238	Hydrocephalus	411	ARSB	OMIM:253200
HP:0000238	Hydrocephalus	4854	NOTCH3	OMIM:130720
HP:0000238	Hydrocephalus	84162	BLTP1	OMIM:617822
HP:0000238	Hydrocephalus	4750	NEK1	OMIM:252100
HP:0000238	Hydrocephalus	6657	SOX2	ORPHA:77298
HP:0000238	Hydrocephalus	5604	MAP2K1	ORPHA:1340
HP:0000238	Hydrocephalus	5605	MAP2K2	ORPHA:1340
HP:0000238	Hydrocephalus	3845	KRAS	ORPHA:1340
HP:0000238	Hydrocephalus	1063	CENPF	OMIM:243605
HP:0000238	Hydrocephalus	51524	TMEM138	ORPHA:2318
HP:0000238	Hydrocephalus	23090	ZNF423	ORPHA:2318
HP:0000238	Hydrocephalus	64093	SMOC1	ORPHA:1106
HP:0000238	Hydrocephalus	57511	COG6	OMIM:614576
HP:0000238	Hydrocephalus	124997	WDR81	OMIM:617967
HP:0000238	Hydrocephalus	80781	COL18A1	ORPHA:1571
HP:0000238	Hydrocephalus	5062	PAK2	ORPHA:1571
HP:0000238	Hydrocephalus	4758	NEU1	ORPHA:93400
HP:0000238	Hydrocephalus	64840	PORCN	OMIM:305600
HP:0000238	Hydrocephalus	7874	USP7	ORPHA:500055
HP:0000238	Hydrocephalus	9791	PTDSS1	ORPHA:2658
HP:0000238	Hydrocephalus	29957	SLC25A24	OMIM:612289
HP:0000238	Hydrocephalus	23040	MYT1L	OMIM:616521
HP:0000238	Hydrocephalus	7305	TYROBP	ORPHA:2770
HP:0000238	Hydrocephalus	54209	TREM2	ORPHA:2770
HP:0000238	Hydrocephalus	112752	IFT43	OMIM:617866
HP:0000238	Hydrocephalus	3110	MNX1	ORPHA:1552
HP:0000238	Hydrocephalus	2068	ERCC2	ORPHA:220295
HP:0000238	Hydrocephalus	2073	ERCC5	ORPHA:220295
HP:0000238	Hydrocephalus	2071	ERCC3	ORPHA:220295
HP:0000238	Hydrocephalus	139285	AMER1	OMIM:300373
HP:0000238	Hydrocephalus	6497	SKI	OMIM:182212
HP:0000238	Hydrocephalus	126792	B3GALT6	ORPHA:536467
HP:0000238	Hydrocephalus	26503	SLC17A5	OMIM:269920
HP:0000238	Hydrocephalus	2990	GUSB	OMIM:253220
HP:0000238	Hydrocephalus	59341	TRPV4	ORPHA:2635
HP:0000238	Hydrocephalus	8243	SMC1A	ORPHA:220386
HP:0000238	Hydrocephalus	8777	MPDZ	OMIM:615219
HP:0000238	Hydrocephalus	25974	MMACHC	ORPHA:79282
HP:0000238	Hydrocephalus	25974	MMACHC	OMIM:277400
HP:0000238	Hydrocephalus	2639	GCDH	OMIM:231670
HP:0000238	Hydrocephalus	9469	CHST3	OMIM:245600
HP:0000238	Hydrocephalus	26229	B3GAT3	OMIM:245600
HP:0000238	Hydrocephalus	5052	PRDX1	OMIM:277400
HP:0000238	Hydrocephalus	8925	HERC1	ORPHA:457359
HP:0000238	Hydrocephalus	8925	HERC1	OMIM:617011
HP:0000238	Hydrocephalus	10491	CRTAP	ORPHA:2050
HP:0000238	Hydrocephalus	51095	TRNT1	OMIM:616084
HP:0000238	Hydrocephalus	55503	TRPV6	OMIM:618188
HP:0000238	Hydrocephalus	9231	DLG5	OMIM:620703
HP:0000238	Hydrocephalus	131405	TRIM71	OMIM:618667
HP:0000238	Hydrocephalus	6513	SLC2A1	ORPHA:168577
HP:0000238	Hydrocephalus	4125	MAN2B1	ORPHA:309282
HP:0000238	Hydrocephalus	9578	CDC42BPB	OMIM:619841
HP:0000238	Hydrocephalus	29128	UHRF1	ORPHA:2268
HP:0000238	Hydrocephalus	3070	HELLS	ORPHA:2268
HP:0000238	Hydrocephalus	1789	DNMT3B	ORPHA:2268
HP:0000238	Hydrocephalus	83879	CDCA7	ORPHA:2268
HP:0000238	Hydrocephalus	9841	ZBTB24	ORPHA:2268
HP:0000238	Hydrocephalus	26834	RNU4-2	OMIM:620851
HP:0000238	Hydrocephalus	2074	ERCC6	OMIM:133540
HP:0000238	Hydrocephalus	10381	TUBB3	ORPHA:300570
HP:0000238	Hydrocephalus	139886	SPIN4	OMIM:301114
HP:0000238	Hydrocephalus	80217	CFAP43	OMIM:236690
HP:0000238	Hydrocephalus	1161	ERCC8	OMIM:216400
HP:0000238	Hydrocephalus	6329	SCN4A	OMIM:620351
HP:0000238	Hydrocephalus	3458	IFNG	ORPHA:805
HP:0000238	Hydrocephalus	29998	BICRA	OMIM:619325
HP:0000238	Hydrocephalus	6599	SMARCC1	OMIM:620241
HP:0000238	Hydrocephalus	23030	KDM4B	OMIM:619320
HP:0030065	Primitive neuroectodermal tumor	4763	NF1	OMIM:601321
HP:0030065	Primitive neuroectodermal tumor	7528	YY1	ORPHA:506358
HP:0030065	Primitive neuroectodermal tumor	2239	GPC4	ORPHA:373
HP:0030065	Primitive neuroectodermal tumor	2719	GPC3	ORPHA:373
HP:0030065	Primitive neuroectodermal tumor	6390	SDHB	OMIM:115310
HP:0030065	Primitive neuroectodermal tumor	8929	PHOX2B	OMIM:209880
HP:0030065	Primitive neuroectodermal tumor	8929	PHOX2B	OMIM:613013
HP:0030065	Primitive neuroectodermal tumor	8929	PHOX2B	ORPHA:661
HP:0030065	Primitive neuroectodermal tumor	8929	PHOX2B	ORPHA:99803
HP:0030065	Primitive neuroectodermal tumor	8929	PHOX2B	ORPHA:635
HP:0030065	Primitive neuroectodermal tumor	4613	MYCN	OMIM:620748
HP:0030065	Primitive neuroectodermal tumor	4613	MYCN	ORPHA:635
HP:0030065	Primitive neuroectodermal tumor	5590	PRKCZ	ORPHA:1606
HP:0030065	Primitive neuroectodermal tumor	2563	GABRD	ORPHA:1606
HP:0030065	Primitive neuroectodermal tumor	23013	SPEN	ORPHA:1606
HP:0030065	Primitive neuroectodermal tumor	8510	MMP23B	ORPHA:1606
HP:0030065	Primitive neuroectodermal tumor	7798	LUZP1	ORPHA:1606
HP:0030065	Primitive neuroectodermal tumor	6497	SKI	ORPHA:1606
HP:0030065	Primitive neuroectodermal tumor	10630	PDPN	ORPHA:1606
HP:0030065	Primitive neuroectodermal tumor	3339	HSPG2	ORPHA:1606
HP:0030065	Primitive neuroectodermal tumor	10277	UBE4B	ORPHA:1606
HP:0030065	Primitive neuroectodermal tumor	8514	KCNAB2	ORPHA:1606
HP:0030065	Primitive neuroectodermal tumor	473	RERE	ORPHA:1606
HP:0030065	Primitive neuroectodermal tumor	63976	PRDM16	ORPHA:1606
HP:0030065	Primitive neuroectodermal tumor	54897	CASZ1	ORPHA:1606
HP:0030065	Primitive neuroectodermal tumor	4292	MLH1	OMIM:276300
HP:0030065	Primitive neuroectodermal tumor	4292	MLH1	ORPHA:144
HP:0030065	Primitive neuroectodermal tumor	5781	PTPN11	ORPHA:500
HP:0030065	Primitive neuroectodermal tumor	673	BRAF	ORPHA:500
HP:0030065	Primitive neuroectodermal tumor	5894	RAF1	ORPHA:500
HP:0030065	Primitive neuroectodermal tumor	64324	NSD1	ORPHA:821
HP:0030065	Primitive neuroectodermal tumor	10297	APC2	ORPHA:821
HP:0030065	Primitive neuroectodermal tumor	861	RUNX1	OMIM:601399
HP:0030065	Primitive neuroectodermal tumor	4072	EPCAM	ORPHA:144
HP:0030065	Primitive neuroectodermal tumor	5395	PMS2	ORPHA:144
HP:0030065	Primitive neuroectodermal tumor	7048	TGFBR2	ORPHA:144
HP:0030065	Primitive neuroectodermal tumor	3845	KRAS	ORPHA:144
HP:0030065	Primitive neuroectodermal tumor	5290	PIK3CA	ORPHA:144
HP:0030065	Primitive neuroectodermal tumor	2956	MSH6	ORPHA:144
HP:0030065	Primitive neuroectodermal tumor	5378	PMS1	ORPHA:144
HP:0030065	Primitive neuroectodermal tumor	4436	MSH2	ORPHA:144
HP:0030065	Primitive neuroectodermal tumor	1908	EDN3	ORPHA:661
HP:0030065	Primitive neuroectodermal tumor	2668	GDNF	ORPHA:661
HP:0030065	Primitive neuroectodermal tumor	627	BDNF	ORPHA:661
HP:0030065	Primitive neuroectodermal tumor	10660	LBX1	ORPHA:661
HP:0030065	Primitive neuroectodermal tumor	283446	MYO1H	ORPHA:661
HP:0030065	Primitive neuroectodermal tumor	64218	SEMA4A	ORPHA:440437
HP:0030065	Primitive neuroectodermal tumor	472	ATM	ORPHA:440437
HP:0030065	Primitive neuroectodermal tumor	5426	POLE	ORPHA:440437
HP:0030065	Primitive neuroectodermal tumor	675	BRCA2	ORPHA:440437
HP:0030065	Primitive neuroectodermal tumor	657	BMPR1A	ORPHA:440437
HP:0030065	Primitive neuroectodermal tumor	6224	RPS20	ORPHA:440437
HP:0030065	Primitive neuroectodermal tumor	4595	MUTYH	ORPHA:440437
HP:0030065	Primitive neuroectodermal tumor	5424	POLD1	ORPHA:440437
HP:0030065	Primitive neuroectodermal tumor	23095	KIF1B	OMIM:256700
HP:0030065	Primitive neuroectodermal tumor	79728	PALB2	OMIM:610832
HP:0030065	Primitive neuroectodermal tumor	5979	RET	ORPHA:99803
HP:0030065	Primitive neuroectodermal tumor	429	ASCL1	ORPHA:99803
HP:0030065	Primitive neuroectodermal tumor	23476	BRD4	ORPHA:443167
HP:0030065	Primitive neuroectodermal tumor	256646	NUTM1	ORPHA:443167
HP:0030065	Primitive neuroectodermal tumor	238	ALK	ORPHA:635
HP:0030065	Primitive neuroectodermal tumor	389421	LIN28B	ORPHA:635
HP:0030065	Primitive neuroectodermal tumor	4004	LMO1	ORPHA:635
HP:0030065	Primitive neuroectodermal tumor	57531	HACE1	ORPHA:635
HP:0030065	Primitive neuroectodermal tumor	203068	TUBB	ORPHA:2505
HP:0030065	Primitive neuroectodermal tumor	203068	TUBB	OMIM:156610
HP:0030065	Primitive neuroectodermal tumor	10982	MAPRE2	ORPHA:2505
HP:0030065	Primitive neuroectodermal tumor	2313	FLI1	ORPHA:370348
HP:0030065	Primitive neuroectodermal tumor	7157	TP53	ORPHA:524
HP:0030065	Primitive neuroectodermal tumor	1029	CDKN2A	ORPHA:524
HP:0030065	Primitive neuroectodermal tumor	4193	MDM2	ORPHA:524
HP:0030065	Primitive neuroectodermal tumor	11200	CHEK2	ORPHA:524
HP:0030065	Primitive neuroectodermal tumor	9817	KEAP1	ORPHA:276399
HP:0030065	Primitive neuroectodermal tumor	23405	DICER1	ORPHA:276399
HP:0030063	Neuroepithelial neoplasm	4221	MEN1	ORPHA:652
HP:0030063	Neuroepithelial neoplasm	1027	CDKN1B	ORPHA:652
HP:0030063	Neuroepithelial neoplasm	1026	CDKN1A	ORPHA:652
HP:0030063	Neuroepithelial neoplasm	1030	CDKN2B	ORPHA:652
HP:0030063	Neuroepithelial neoplasm	1031	CDKN2C	ORPHA:652
HP:0030063	Neuroepithelial neoplasm	2064	ERBB2	OMIM:137800
HP:0030063	Neuroepithelial neoplasm	3417	IDH1	OMIM:137800
HP:0030063	Neuroepithelial neoplasm	3458	IFNG	OMIM:613254
HP:0030063	Neuroepithelial neoplasm	7249	TSC2	OMIM:613254
HP:0030063	Neuroepithelial neoplasm	65998	ZFTA	ORPHA:251636
HP:0030063	Neuroepithelial neoplasm	7248	TSC1	OMIM:191100
HP:0030063	Neuroepithelial neoplasm	26040	SETBP1	ORPHA:798
HP:0030063	Neuroepithelial neoplasm	4292	MLH1	OMIM:276300
HP:0030063	Neuroepithelial neoplasm	1029	CDKN2A	ORPHA:524
HP:0030063	Neuroepithelial neoplasm	4193	MDM2	ORPHA:524
HP:0030063	Neuroepithelial neoplasm	7528	YY1	ORPHA:506358
HP:0030063	Neuroepithelial neoplasm	2239	GPC4	ORPHA:373
HP:0030063	Neuroepithelial neoplasm	2719	GPC3	ORPHA:373
HP:0030063	Neuroepithelial neoplasm	6390	SDHB	OMIM:115310
HP:0030063	Neuroepithelial neoplasm	8929	PHOX2B	OMIM:209880
HP:0030063	Neuroepithelial neoplasm	8929	PHOX2B	OMIM:613013
HP:0030063	Neuroepithelial neoplasm	8929	PHOX2B	ORPHA:661
HP:0030063	Neuroepithelial neoplasm	8929	PHOX2B	ORPHA:99803
HP:0030063	Neuroepithelial neoplasm	8929	PHOX2B	ORPHA:635
HP:0030063	Neuroepithelial neoplasm	4613	MYCN	OMIM:620748
HP:0030063	Neuroepithelial neoplasm	4613	MYCN	ORPHA:635
HP:0030063	Neuroepithelial neoplasm	5590	PRKCZ	ORPHA:1606
HP:0030063	Neuroepithelial neoplasm	2563	GABRD	ORPHA:1606
HP:0030063	Neuroepithelial neoplasm	23013	SPEN	ORPHA:1606
HP:0030063	Neuroepithelial neoplasm	8510	MMP23B	ORPHA:1606
HP:0030063	Neuroepithelial neoplasm	7798	LUZP1	ORPHA:1606
HP:0030063	Neuroepithelial neoplasm	6497	SKI	ORPHA:1606
HP:0030063	Neuroepithelial neoplasm	10630	PDPN	ORPHA:1606
HP:0030063	Neuroepithelial neoplasm	3339	HSPG2	ORPHA:1606
HP:0030063	Neuroepithelial neoplasm	10277	UBE4B	ORPHA:1606
HP:0030063	Neuroepithelial neoplasm	8514	KCNAB2	ORPHA:1606
HP:0030063	Neuroepithelial neoplasm	473	RERE	ORPHA:1606
HP:0030063	Neuroepithelial neoplasm	63976	PRDM16	ORPHA:1606
HP:0030063	Neuroepithelial neoplasm	54897	CASZ1	ORPHA:1606
HP:0030063	Neuroepithelial neoplasm	5781	PTPN11	ORPHA:500
HP:0030063	Neuroepithelial neoplasm	673	BRAF	ORPHA:500
HP:0030063	Neuroepithelial neoplasm	5894	RAF1	ORPHA:500
HP:0030063	Neuroepithelial neoplasm	861	RUNX1	OMIM:601399
HP:0030063	Neuroepithelial neoplasm	1908	EDN3	ORPHA:661
HP:0030063	Neuroepithelial neoplasm	2668	GDNF	ORPHA:661
HP:0030063	Neuroepithelial neoplasm	627	BDNF	ORPHA:661
HP:0030063	Neuroepithelial neoplasm	10660	LBX1	ORPHA:661
HP:0030063	Neuroepithelial neoplasm	283446	MYO1H	ORPHA:661
HP:0030063	Neuroepithelial neoplasm	23095	KIF1B	OMIM:256700
HP:0030063	Neuroepithelial neoplasm	79728	PALB2	OMIM:610832
HP:0030063	Neuroepithelial neoplasm	5979	RET	ORPHA:99803
HP:0030063	Neuroepithelial neoplasm	429	ASCL1	ORPHA:99803
HP:0030063	Neuroepithelial neoplasm	23476	BRD4	ORPHA:443167
HP:0030063	Neuroepithelial neoplasm	256646	NUTM1	ORPHA:443167
HP:0030063	Neuroepithelial neoplasm	238	ALK	ORPHA:635
HP:0030063	Neuroepithelial neoplasm	389421	LIN28B	ORPHA:635
HP:0030063	Neuroepithelial neoplasm	4004	LMO1	ORPHA:635
HP:0030063	Neuroepithelial neoplasm	57531	HACE1	ORPHA:635
HP:0030063	Neuroepithelial neoplasm	203068	TUBB	ORPHA:2505
HP:0030063	Neuroepithelial neoplasm	203068	TUBB	OMIM:156610
HP:0030063	Neuroepithelial neoplasm	10982	MAPRE2	ORPHA:2505
HP:0030063	Neuroepithelial neoplasm	2956	MSH6	OMIM:619097
HP:0030063	Neuroepithelial neoplasm	64324	NSD1	ORPHA:821
HP:0030063	Neuroepithelial neoplasm	10297	APC2	ORPHA:821
HP:0030063	Neuroepithelial neoplasm	11235	PDCD10	ORPHA:221061
HP:0030063	Neuroepithelial neoplasm	5290	PIK3CA	ORPHA:221061
HP:0030063	Neuroepithelial neoplasm	83605	CCM2	ORPHA:221061
HP:0030063	Neuroepithelial neoplasm	889	KRIT1	ORPHA:221061
HP:0030063	Neuroepithelial neoplasm	5395	PMS2	OMIM:619101
HP:0030063	Neuroepithelial neoplasm	4437	MSH3	OMIM:617100
HP:0030063	Neuroepithelial neoplasm	4437	MSH3	ORPHA:480536
HP:0030063	Neuroepithelial neoplasm	2260	FGFR1	OMIM:613001
HP:0030063	Neuroepithelial neoplasm	3418	IDH2	ORPHA:163634
HP:0030063	Neuroepithelial neoplasm	675	BRCA2	OMIM:613029
HP:0030063	Neuroepithelial neoplasm	4683	NBN	OMIM:251260
HP:0030063	Neuroepithelial neoplasm	4683	NBN	ORPHA:647
HP:0030063	Neuroepithelial neoplasm	4763	NF1	OMIM:162200
HP:0030063	Neuroepithelial neoplasm	4763	NF1	ORPHA:97685
HP:0030063	Neuroepithelial neoplasm	324	APC	ORPHA:99818
HP:0030063	Neuroepithelial neoplasm	6608	SMO	OMIM:241800
HP:0030063	Neuroepithelial neoplasm	4771	NF2	ORPHA:637
HP:0030063	Neuroepithelial neoplasm	11200	CHEK2	OMIM:609265
HP:0030063	Neuroepithelial neoplasm	161742	SPRED1	ORPHA:137605
HP:0030063	Neuroepithelial neoplasm	5925	RB1	ORPHA:1587
HP:0030063	Neuroepithelial neoplasm	5925	RB1	OMIM:180200
HP:0030063	Neuroepithelial neoplasm	5925	RB1	OMIM:259500
HP:0030063	Neuroepithelial neoplasm	7157	TP53	OMIM:259500
HP:0030063	Neuroepithelial neoplasm	64218	SEMA4A	ORPHA:440437
HP:0030063	Neuroepithelial neoplasm	472	ATM	ORPHA:440437
HP:0030063	Neuroepithelial neoplasm	5426	POLE	ORPHA:440437
HP:0030063	Neuroepithelial neoplasm	657	BMPR1A	ORPHA:440437
HP:0030063	Neuroepithelial neoplasm	6224	RPS20	ORPHA:440437
HP:0030063	Neuroepithelial neoplasm	4595	MUTYH	ORPHA:440437
HP:0030063	Neuroepithelial neoplasm	5424	POLD1	ORPHA:440437
HP:0030063	Neuroepithelial neoplasm	4072	EPCAM	ORPHA:144
HP:0030063	Neuroepithelial neoplasm	7048	TGFBR2	ORPHA:144
HP:0030063	Neuroepithelial neoplasm	3845	KRAS	ORPHA:144
HP:0030063	Neuroepithelial neoplasm	5378	PMS1	ORPHA:144
HP:0030063	Neuroepithelial neoplasm	4436	MSH2	ORPHA:144
HP:0030063	Neuroepithelial neoplasm	4436	MSH2	OMIM:619096
HP:0030063	Neuroepithelial neoplasm	2313	FLI1	ORPHA:370348
HP:0030063	Neuroepithelial neoplasm	9817	KEAP1	ORPHA:276399
HP:0030063	Neuroepithelial neoplasm	23405	DICER1	ORPHA:276399
HP:0030063	Neuroepithelial neoplasm	5728	PTEN	OMIM:613028
HP:0030062	Craniopharyngioma	3481	IGF2	OMIM:180860
HP:0030061	Neuroectodermal neoplasm	4221	MEN1	ORPHA:652
HP:0030061	Neuroectodermal neoplasm	1027	CDKN1B	ORPHA:652
HP:0030061	Neuroectodermal neoplasm	1026	CDKN1A	ORPHA:652
HP:0030061	Neuroectodermal neoplasm	1030	CDKN2B	ORPHA:652
HP:0030061	Neuroectodermal neoplasm	1031	CDKN2C	ORPHA:652
HP:0030061	Neuroectodermal neoplasm	2064	ERBB2	OMIM:137800
HP:0030061	Neuroectodermal neoplasm	3417	IDH1	OMIM:137800
HP:0030061	Neuroectodermal neoplasm	3458	IFNG	OMIM:613254
HP:0030061	Neuroectodermal neoplasm	7249	TSC2	OMIM:613254
HP:0030061	Neuroectodermal neoplasm	65998	ZFTA	ORPHA:251636
HP:0030061	Neuroectodermal neoplasm	7248	TSC1	OMIM:191100
HP:0030061	Neuroectodermal neoplasm	26040	SETBP1	ORPHA:798
HP:0030061	Neuroectodermal neoplasm	4292	MLH1	OMIM:276300
HP:0030061	Neuroectodermal neoplasm	1029	CDKN2A	ORPHA:524
HP:0030061	Neuroectodermal neoplasm	4193	MDM2	ORPHA:524
HP:0030061	Neuroectodermal neoplasm	7528	YY1	ORPHA:506358
HP:0030061	Neuroectodermal neoplasm	2239	GPC4	ORPHA:373
HP:0030061	Neuroectodermal neoplasm	2719	GPC3	ORPHA:373
HP:0030061	Neuroectodermal neoplasm	6390	SDHB	OMIM:115310
HP:0030061	Neuroectodermal neoplasm	8929	PHOX2B	OMIM:209880
HP:0030061	Neuroectodermal neoplasm	8929	PHOX2B	OMIM:613013
HP:0030061	Neuroectodermal neoplasm	8929	PHOX2B	ORPHA:661
HP:0030061	Neuroectodermal neoplasm	8929	PHOX2B	ORPHA:99803
HP:0030061	Neuroectodermal neoplasm	8929	PHOX2B	ORPHA:635
HP:0030061	Neuroectodermal neoplasm	4613	MYCN	OMIM:620748
HP:0030061	Neuroectodermal neoplasm	4613	MYCN	ORPHA:635
HP:0030061	Neuroectodermal neoplasm	5590	PRKCZ	ORPHA:1606
HP:0030061	Neuroectodermal neoplasm	2563	GABRD	ORPHA:1606
HP:0030061	Neuroectodermal neoplasm	23013	SPEN	ORPHA:1606
HP:0030061	Neuroectodermal neoplasm	8510	MMP23B	ORPHA:1606
HP:0030061	Neuroectodermal neoplasm	7798	LUZP1	ORPHA:1606
HP:0030061	Neuroectodermal neoplasm	6497	SKI	ORPHA:1606
HP:0030061	Neuroectodermal neoplasm	10630	PDPN	ORPHA:1606
HP:0030061	Neuroectodermal neoplasm	3339	HSPG2	ORPHA:1606
HP:0030061	Neuroectodermal neoplasm	10277	UBE4B	ORPHA:1606
HP:0030061	Neuroectodermal neoplasm	8514	KCNAB2	ORPHA:1606
HP:0030061	Neuroectodermal neoplasm	473	RERE	ORPHA:1606
HP:0030061	Neuroectodermal neoplasm	63976	PRDM16	ORPHA:1606
HP:0030061	Neuroectodermal neoplasm	54897	CASZ1	ORPHA:1606
HP:0030061	Neuroectodermal neoplasm	5781	PTPN11	ORPHA:500
HP:0030061	Neuroectodermal neoplasm	673	BRAF	ORPHA:500
HP:0030061	Neuroectodermal neoplasm	5894	RAF1	ORPHA:500
HP:0030061	Neuroectodermal neoplasm	861	RUNX1	OMIM:601399
HP:0030061	Neuroectodermal neoplasm	1908	EDN3	ORPHA:661
HP:0030061	Neuroectodermal neoplasm	2668	GDNF	ORPHA:661
HP:0030061	Neuroectodermal neoplasm	627	BDNF	ORPHA:661
HP:0030061	Neuroectodermal neoplasm	10660	LBX1	ORPHA:661
HP:0030061	Neuroectodermal neoplasm	283446	MYO1H	ORPHA:661
HP:0030061	Neuroectodermal neoplasm	23095	KIF1B	OMIM:256700
HP:0030061	Neuroectodermal neoplasm	79728	PALB2	OMIM:610832
HP:0030061	Neuroectodermal neoplasm	5979	RET	ORPHA:99803
HP:0030061	Neuroectodermal neoplasm	429	ASCL1	ORPHA:99803
HP:0030061	Neuroectodermal neoplasm	23476	BRD4	ORPHA:443167
HP:0030061	Neuroectodermal neoplasm	256646	NUTM1	ORPHA:443167
HP:0030061	Neuroectodermal neoplasm	238	ALK	ORPHA:635
HP:0030061	Neuroectodermal neoplasm	389421	LIN28B	ORPHA:635
HP:0030061	Neuroectodermal neoplasm	4004	LMO1	ORPHA:635
HP:0030061	Neuroectodermal neoplasm	57531	HACE1	ORPHA:635
HP:0030061	Neuroectodermal neoplasm	203068	TUBB	ORPHA:2505
HP:0030061	Neuroectodermal neoplasm	203068	TUBB	OMIM:156610
HP:0030061	Neuroectodermal neoplasm	10982	MAPRE2	ORPHA:2505
HP:0030061	Neuroectodermal neoplasm	2956	MSH6	OMIM:619097
HP:0030061	Neuroectodermal neoplasm	64324	NSD1	ORPHA:821
HP:0030061	Neuroectodermal neoplasm	10297	APC2	ORPHA:821
HP:0030061	Neuroectodermal neoplasm	11235	PDCD10	ORPHA:221061
HP:0030061	Neuroectodermal neoplasm	5290	PIK3CA	ORPHA:221061
HP:0030061	Neuroectodermal neoplasm	83605	CCM2	ORPHA:221061
HP:0030061	Neuroectodermal neoplasm	889	KRIT1	ORPHA:221061
HP:0030061	Neuroectodermal neoplasm	5395	PMS2	OMIM:619101
HP:0030061	Neuroectodermal neoplasm	4437	MSH3	OMIM:617100
HP:0030061	Neuroectodermal neoplasm	4437	MSH3	ORPHA:480536
HP:0030061	Neuroectodermal neoplasm	2260	FGFR1	OMIM:613001
HP:0030061	Neuroectodermal neoplasm	3418	IDH2	ORPHA:163634
HP:0030061	Neuroectodermal neoplasm	675	BRCA2	OMIM:613029
HP:0030061	Neuroectodermal neoplasm	4683	NBN	OMIM:251260
HP:0030061	Neuroectodermal neoplasm	4683	NBN	ORPHA:647
HP:0030061	Neuroectodermal neoplasm	4763	NF1	OMIM:162200
HP:0030061	Neuroectodermal neoplasm	4763	NF1	ORPHA:97685
HP:0030061	Neuroectodermal neoplasm	324	APC	ORPHA:99818
HP:0030061	Neuroectodermal neoplasm	6608	SMO	OMIM:241800
HP:0030061	Neuroectodermal neoplasm	4771	NF2	ORPHA:637
HP:0030061	Neuroectodermal neoplasm	11200	CHEK2	OMIM:609265
HP:0030061	Neuroectodermal neoplasm	161742	SPRED1	ORPHA:137605
HP:0030061	Neuroectodermal neoplasm	5925	RB1	ORPHA:1587
HP:0030061	Neuroectodermal neoplasm	5925	RB1	OMIM:180200
HP:0030061	Neuroectodermal neoplasm	5925	RB1	OMIM:259500
HP:0030061	Neuroectodermal neoplasm	7157	TP53	OMIM:259500
HP:0030061	Neuroectodermal neoplasm	64218	SEMA4A	ORPHA:440437
HP:0030061	Neuroectodermal neoplasm	472	ATM	ORPHA:440437
HP:0030061	Neuroectodermal neoplasm	5426	POLE	ORPHA:440437
HP:0030061	Neuroectodermal neoplasm	657	BMPR1A	ORPHA:440437
HP:0030061	Neuroectodermal neoplasm	6224	RPS20	ORPHA:440437
HP:0030061	Neuroectodermal neoplasm	4595	MUTYH	ORPHA:440437
HP:0030061	Neuroectodermal neoplasm	5424	POLD1	ORPHA:440437
HP:0030061	Neuroectodermal neoplasm	4072	EPCAM	ORPHA:144
HP:0030061	Neuroectodermal neoplasm	7048	TGFBR2	ORPHA:144
HP:0030061	Neuroectodermal neoplasm	3845	KRAS	ORPHA:144
HP:0030061	Neuroectodermal neoplasm	5378	PMS1	ORPHA:144
HP:0030061	Neuroectodermal neoplasm	4436	MSH2	ORPHA:144
HP:0030061	Neuroectodermal neoplasm	4436	MSH2	OMIM:619096
HP:0030061	Neuroectodermal neoplasm	3481	IGF2	OMIM:180860
HP:0030061	Neuroectodermal neoplasm	2313	FLI1	ORPHA:370348
HP:0030061	Neuroectodermal neoplasm	9817	KEAP1	ORPHA:276399
HP:0030061	Neuroectodermal neoplasm	23405	DICER1	ORPHA:276399
HP:0030061	Neuroectodermal neoplasm	5728	PTEN	OMIM:613028
HP:0030060	Nervous tissue neoplasm	4221	MEN1	ORPHA:652
HP:0030060	Nervous tissue neoplasm	1027	CDKN1B	ORPHA:652
HP:0030060	Nervous tissue neoplasm	1026	CDKN1A	ORPHA:652
HP:0030060	Nervous tissue neoplasm	1030	CDKN2B	ORPHA:652
HP:0030060	Nervous tissue neoplasm	1031	CDKN2C	ORPHA:652
HP:0030060	Nervous tissue neoplasm	2064	ERBB2	OMIM:137800
HP:0030060	Nervous tissue neoplasm	3417	IDH1	OMIM:137800
HP:0030060	Nervous tissue neoplasm	3458	IFNG	OMIM:613254
HP:0030060	Nervous tissue neoplasm	7249	TSC2	OMIM:613254
HP:0030060	Nervous tissue neoplasm	65998	ZFTA	ORPHA:251636
HP:0030060	Nervous tissue neoplasm	7248	TSC1	OMIM:191100
HP:0030060	Nervous tissue neoplasm	26040	SETBP1	ORPHA:798
HP:0030060	Nervous tissue neoplasm	4292	MLH1	OMIM:276300
HP:0030060	Nervous tissue neoplasm	1029	CDKN2A	ORPHA:524
HP:0030060	Nervous tissue neoplasm	4193	MDM2	ORPHA:524
HP:0030060	Nervous tissue neoplasm	7528	YY1	ORPHA:506358
HP:0030060	Nervous tissue neoplasm	2239	GPC4	ORPHA:373
HP:0030060	Nervous tissue neoplasm	2719	GPC3	ORPHA:373
HP:0030060	Nervous tissue neoplasm	6390	SDHB	OMIM:115310
HP:0030060	Nervous tissue neoplasm	8929	PHOX2B	OMIM:209880
HP:0030060	Nervous tissue neoplasm	8929	PHOX2B	OMIM:613013
HP:0030060	Nervous tissue neoplasm	8929	PHOX2B	ORPHA:661
HP:0030060	Nervous tissue neoplasm	8929	PHOX2B	ORPHA:99803
HP:0030060	Nervous tissue neoplasm	8929	PHOX2B	ORPHA:635
HP:0030060	Nervous tissue neoplasm	4613	MYCN	OMIM:620748
HP:0030060	Nervous tissue neoplasm	4613	MYCN	ORPHA:635
HP:0030060	Nervous tissue neoplasm	5590	PRKCZ	ORPHA:1606
HP:0030060	Nervous tissue neoplasm	2563	GABRD	ORPHA:1606
HP:0030060	Nervous tissue neoplasm	23013	SPEN	ORPHA:1606
HP:0030060	Nervous tissue neoplasm	8510	MMP23B	ORPHA:1606
HP:0030060	Nervous tissue neoplasm	7798	LUZP1	ORPHA:1606
HP:0030060	Nervous tissue neoplasm	6497	SKI	ORPHA:1606
HP:0030060	Nervous tissue neoplasm	10630	PDPN	ORPHA:1606
HP:0030060	Nervous tissue neoplasm	3339	HSPG2	ORPHA:1606
HP:0030060	Nervous tissue neoplasm	10277	UBE4B	ORPHA:1606
HP:0030060	Nervous tissue neoplasm	8514	KCNAB2	ORPHA:1606
HP:0030060	Nervous tissue neoplasm	473	RERE	ORPHA:1606
HP:0030060	Nervous tissue neoplasm	63976	PRDM16	ORPHA:1606
HP:0030060	Nervous tissue neoplasm	54897	CASZ1	ORPHA:1606
HP:0030060	Nervous tissue neoplasm	5781	PTPN11	ORPHA:500
HP:0030060	Nervous tissue neoplasm	673	BRAF	ORPHA:500
HP:0030060	Nervous tissue neoplasm	5894	RAF1	ORPHA:500
HP:0030060	Nervous tissue neoplasm	861	RUNX1	OMIM:601399
HP:0030060	Nervous tissue neoplasm	1908	EDN3	ORPHA:661
HP:0030060	Nervous tissue neoplasm	2668	GDNF	ORPHA:661
HP:0030060	Nervous tissue neoplasm	627	BDNF	ORPHA:661
HP:0030060	Nervous tissue neoplasm	10660	LBX1	ORPHA:661
HP:0030060	Nervous tissue neoplasm	283446	MYO1H	ORPHA:661
HP:0030060	Nervous tissue neoplasm	23095	KIF1B	OMIM:256700
HP:0030060	Nervous tissue neoplasm	79728	PALB2	OMIM:610832
HP:0030060	Nervous tissue neoplasm	5979	RET	ORPHA:99803
HP:0030060	Nervous tissue neoplasm	429	ASCL1	ORPHA:99803
HP:0030060	Nervous tissue neoplasm	23476	BRD4	ORPHA:443167
HP:0030060	Nervous tissue neoplasm	256646	NUTM1	ORPHA:443167
HP:0030060	Nervous tissue neoplasm	238	ALK	ORPHA:635
HP:0030060	Nervous tissue neoplasm	389421	LIN28B	ORPHA:635
HP:0030060	Nervous tissue neoplasm	4004	LMO1	ORPHA:635
HP:0030060	Nervous tissue neoplasm	57531	HACE1	ORPHA:635
HP:0030060	Nervous tissue neoplasm	203068	TUBB	ORPHA:2505
HP:0030060	Nervous tissue neoplasm	203068	TUBB	OMIM:156610
HP:0030060	Nervous tissue neoplasm	10982	MAPRE2	ORPHA:2505
HP:0030060	Nervous tissue neoplasm	2956	MSH6	OMIM:619097
HP:0030060	Nervous tissue neoplasm	64324	NSD1	ORPHA:821
HP:0030060	Nervous tissue neoplasm	10297	APC2	ORPHA:821
HP:0030060	Nervous tissue neoplasm	11235	PDCD10	ORPHA:221061
HP:0030060	Nervous tissue neoplasm	5290	PIK3CA	ORPHA:221061
HP:0030060	Nervous tissue neoplasm	83605	CCM2	ORPHA:221061
HP:0030060	Nervous tissue neoplasm	889	KRIT1	ORPHA:221061
HP:0030060	Nervous tissue neoplasm	5395	PMS2	OMIM:619101
HP:0030060	Nervous tissue neoplasm	4437	MSH3	OMIM:617100
HP:0030060	Nervous tissue neoplasm	4437	MSH3	ORPHA:480536
HP:0030060	Nervous tissue neoplasm	2260	FGFR1	OMIM:613001
HP:0030060	Nervous tissue neoplasm	3418	IDH2	ORPHA:163634
HP:0030060	Nervous tissue neoplasm	675	BRCA2	OMIM:613029
HP:0030060	Nervous tissue neoplasm	4683	NBN	OMIM:251260
HP:0030060	Nervous tissue neoplasm	4683	NBN	ORPHA:647
HP:0030060	Nervous tissue neoplasm	4763	NF1	OMIM:162200
HP:0030060	Nervous tissue neoplasm	4763	NF1	ORPHA:97685
HP:0030060	Nervous tissue neoplasm	324	APC	ORPHA:99818
HP:0030060	Nervous tissue neoplasm	6608	SMO	OMIM:241800
HP:0030060	Nervous tissue neoplasm	4771	NF2	ORPHA:637
HP:0030060	Nervous tissue neoplasm	11200	CHEK2	OMIM:609265
HP:0030060	Nervous tissue neoplasm	161742	SPRED1	ORPHA:137605
HP:0030060	Nervous tissue neoplasm	5925	RB1	ORPHA:1587
HP:0030060	Nervous tissue neoplasm	5925	RB1	OMIM:180200
HP:0030060	Nervous tissue neoplasm	5925	RB1	OMIM:259500
HP:0030060	Nervous tissue neoplasm	7157	TP53	OMIM:259500
HP:0030060	Nervous tissue neoplasm	64218	SEMA4A	ORPHA:440437
HP:0030060	Nervous tissue neoplasm	472	ATM	ORPHA:440437
HP:0030060	Nervous tissue neoplasm	5426	POLE	ORPHA:440437
HP:0030060	Nervous tissue neoplasm	657	BMPR1A	ORPHA:440437
HP:0030060	Nervous tissue neoplasm	6224	RPS20	ORPHA:440437
HP:0030060	Nervous tissue neoplasm	4595	MUTYH	ORPHA:440437
HP:0030060	Nervous tissue neoplasm	5424	POLD1	ORPHA:440437
HP:0030060	Nervous tissue neoplasm	4072	EPCAM	ORPHA:144
HP:0030060	Nervous tissue neoplasm	7048	TGFBR2	ORPHA:144
HP:0030060	Nervous tissue neoplasm	3845	KRAS	ORPHA:144
HP:0030060	Nervous tissue neoplasm	5378	PMS1	ORPHA:144
HP:0030060	Nervous tissue neoplasm	4436	MSH2	ORPHA:144
HP:0030060	Nervous tissue neoplasm	4436	MSH2	OMIM:619096
HP:0030060	Nervous tissue neoplasm	3481	IGF2	OMIM:180860
HP:0030060	Nervous tissue neoplasm	2313	FLI1	ORPHA:370348
HP:0030060	Nervous tissue neoplasm	9817	KEAP1	ORPHA:276399
HP:0030060	Nervous tissue neoplasm	23405	DICER1	ORPHA:276399
HP:0030060	Nervous tissue neoplasm	5728	PTEN	OMIM:613028
HP:0030067	Peripheral primitive neuroectodermal neoplasm	4763	NF1	OMIM:601321
HP:0030067	Peripheral primitive neuroectodermal neoplasm	7528	YY1	ORPHA:506358
HP:0030067	Peripheral primitive neuroectodermal neoplasm	2239	GPC4	ORPHA:373
HP:0030067	Peripheral primitive neuroectodermal neoplasm	2719	GPC3	ORPHA:373
HP:0030067	Peripheral primitive neuroectodermal neoplasm	6390	SDHB	OMIM:115310
HP:0030067	Peripheral primitive neuroectodermal neoplasm	8929	PHOX2B	OMIM:209880
HP:0030067	Peripheral primitive neuroectodermal neoplasm	8929	PHOX2B	OMIM:613013
HP:0030067	Peripheral primitive neuroectodermal neoplasm	8929	PHOX2B	ORPHA:661
HP:0030067	Peripheral primitive neuroectodermal neoplasm	8929	PHOX2B	ORPHA:99803
HP:0030067	Peripheral primitive neuroectodermal neoplasm	8929	PHOX2B	ORPHA:635
HP:0030067	Peripheral primitive neuroectodermal neoplasm	4613	MYCN	OMIM:620748
HP:0030067	Peripheral primitive neuroectodermal neoplasm	4613	MYCN	ORPHA:635
HP:0030067	Peripheral primitive neuroectodermal neoplasm	5590	PRKCZ	ORPHA:1606
HP:0030067	Peripheral primitive neuroectodermal neoplasm	2563	GABRD	ORPHA:1606
HP:0030067	Peripheral primitive neuroectodermal neoplasm	23013	SPEN	ORPHA:1606
HP:0030067	Peripheral primitive neuroectodermal neoplasm	8510	MMP23B	ORPHA:1606
HP:0030067	Peripheral primitive neuroectodermal neoplasm	7798	LUZP1	ORPHA:1606
HP:0030067	Peripheral primitive neuroectodermal neoplasm	6497	SKI	ORPHA:1606
HP:0030067	Peripheral primitive neuroectodermal neoplasm	10630	PDPN	ORPHA:1606
HP:0030067	Peripheral primitive neuroectodermal neoplasm	3339	HSPG2	ORPHA:1606
HP:0030067	Peripheral primitive neuroectodermal neoplasm	10277	UBE4B	ORPHA:1606
HP:0030067	Peripheral primitive neuroectodermal neoplasm	8514	KCNAB2	ORPHA:1606
HP:0030067	Peripheral primitive neuroectodermal neoplasm	473	RERE	ORPHA:1606
HP:0030067	Peripheral primitive neuroectodermal neoplasm	63976	PRDM16	ORPHA:1606
HP:0030067	Peripheral primitive neuroectodermal neoplasm	54897	CASZ1	ORPHA:1606
HP:0030067	Peripheral primitive neuroectodermal neoplasm	4292	MLH1	OMIM:276300
HP:0030067	Peripheral primitive neuroectodermal neoplasm	4292	MLH1	ORPHA:144
HP:0030067	Peripheral primitive neuroectodermal neoplasm	5781	PTPN11	ORPHA:500
HP:0030067	Peripheral primitive neuroectodermal neoplasm	673	BRAF	ORPHA:500
HP:0030067	Peripheral primitive neuroectodermal neoplasm	5894	RAF1	ORPHA:500
HP:0030067	Peripheral primitive neuroectodermal neoplasm	64324	NSD1	ORPHA:821
HP:0030067	Peripheral primitive neuroectodermal neoplasm	10297	APC2	ORPHA:821
HP:0030067	Peripheral primitive neuroectodermal neoplasm	861	RUNX1	OMIM:601399
HP:0030067	Peripheral primitive neuroectodermal neoplasm	4072	EPCAM	ORPHA:144
HP:0030067	Peripheral primitive neuroectodermal neoplasm	5395	PMS2	ORPHA:144
HP:0030067	Peripheral primitive neuroectodermal neoplasm	7048	TGFBR2	ORPHA:144
HP:0030067	Peripheral primitive neuroectodermal neoplasm	3845	KRAS	ORPHA:144
HP:0030067	Peripheral primitive neuroectodermal neoplasm	5290	PIK3CA	ORPHA:144
HP:0030067	Peripheral primitive neuroectodermal neoplasm	2956	MSH6	ORPHA:144
HP:0030067	Peripheral primitive neuroectodermal neoplasm	5378	PMS1	ORPHA:144
HP:0030067	Peripheral primitive neuroectodermal neoplasm	4436	MSH2	ORPHA:144
HP:0030067	Peripheral primitive neuroectodermal neoplasm	1908	EDN3	ORPHA:661
HP:0030067	Peripheral primitive neuroectodermal neoplasm	2668	GDNF	ORPHA:661
HP:0030067	Peripheral primitive neuroectodermal neoplasm	627	BDNF	ORPHA:661
HP:0030067	Peripheral primitive neuroectodermal neoplasm	10660	LBX1	ORPHA:661
HP:0030067	Peripheral primitive neuroectodermal neoplasm	283446	MYO1H	ORPHA:661
HP:0030067	Peripheral primitive neuroectodermal neoplasm	64218	SEMA4A	ORPHA:440437
HP:0030067	Peripheral primitive neuroectodermal neoplasm	472	ATM	ORPHA:440437
HP:0030067	Peripheral primitive neuroectodermal neoplasm	5426	POLE	ORPHA:440437
HP:0030067	Peripheral primitive neuroectodermal neoplasm	675	BRCA2	ORPHA:440437
HP:0030067	Peripheral primitive neuroectodermal neoplasm	657	BMPR1A	ORPHA:440437
HP:0030067	Peripheral primitive neuroectodermal neoplasm	6224	RPS20	ORPHA:440437
HP:0030067	Peripheral primitive neuroectodermal neoplasm	4595	MUTYH	ORPHA:440437
HP:0030067	Peripheral primitive neuroectodermal neoplasm	5424	POLD1	ORPHA:440437
HP:0030067	Peripheral primitive neuroectodermal neoplasm	11200	CHEK2	ORPHA:440437
HP:0030067	Peripheral primitive neuroectodermal neoplasm	23095	KIF1B	OMIM:256700
HP:0030067	Peripheral primitive neuroectodermal neoplasm	79728	PALB2	OMIM:610832
HP:0030067	Peripheral primitive neuroectodermal neoplasm	5979	RET	ORPHA:99803
HP:0030067	Peripheral primitive neuroectodermal neoplasm	429	ASCL1	ORPHA:99803
HP:0030067	Peripheral primitive neuroectodermal neoplasm	23476	BRD4	ORPHA:443167
HP:0030067	Peripheral primitive neuroectodermal neoplasm	256646	NUTM1	ORPHA:443167
HP:0030067	Peripheral primitive neuroectodermal neoplasm	238	ALK	ORPHA:635
HP:0030067	Peripheral primitive neuroectodermal neoplasm	389421	LIN28B	ORPHA:635
HP:0030067	Peripheral primitive neuroectodermal neoplasm	4004	LMO1	ORPHA:635
HP:0030067	Peripheral primitive neuroectodermal neoplasm	57531	HACE1	ORPHA:635
HP:0030067	Peripheral primitive neuroectodermal neoplasm	203068	TUBB	ORPHA:2505
HP:0030067	Peripheral primitive neuroectodermal neoplasm	203068	TUBB	OMIM:156610
HP:0030067	Peripheral primitive neuroectodermal neoplasm	10982	MAPRE2	ORPHA:2505
HP:0030067	Peripheral primitive neuroectodermal neoplasm	2313	FLI1	ORPHA:370348
HP:0030127	Endometriosis	79228	THOC6	ORPHA:363444
HP:0030127	Endometriosis	79228	THOC6	OMIM:613680
HP:0030127	Endometriosis	79803	HPS6	OMIM:614075
HP:0007190	Neuronal loss in the cerebral cortex	5091	PC	OMIM:266150
HP:0007190	Neuronal loss in the cerebral cortex	2521	FUS	ORPHA:275872
HP:0007190	Neuronal loss in the cerebral cortex	8878	SQSTM1	ORPHA:275872
HP:0007190	Neuronal loss in the cerebral cortex	7415	VCP	ORPHA:275872
HP:0007190	Neuronal loss in the cerebral cortex	23435	TARDBP	ORPHA:275872
HP:0007190	Neuronal loss in the cerebral cortex	29110	TBK1	ORPHA:275872
HP:0007190	Neuronal loss in the cerebral cortex	400916	CHCHD10	ORPHA:275872
HP:0007190	Neuronal loss in the cerebral cortex	5277	PIGA	OMIM:300868
HP:0002313	Spastic paraparesis	23111	SPART	OMIM:275900
HP:0002313	Spastic paraparesis	23111	SPART	ORPHA:101000
HP:0002313	Spastic paraparesis	4524	MTHFR	ORPHA:395
HP:0002313	Spastic paraparesis	84265	POLR3GL	OMIM:619234
HP:0002313	Spastic paraparesis	91574	MTRFR	ORPHA:254930
HP:0002313	Spastic paraparesis	91574	MTRFR	ORPHA:320375
HP:0002313	Spastic paraparesis	4099	MAG	OMIM:616680
HP:0002313	Spastic paraparesis	10159	ATP6AP2	ORPHA:363654
HP:0002313	Spastic paraparesis	55532	SLC30A10	ORPHA:309854
HP:0002313	Spastic paraparesis	55532	SLC30A10	OMIM:613280
HP:0002313	Spastic paraparesis	1593	CYP27A1	ORPHA:909
HP:0002313	Spastic paraparesis	54902	TTC19	OMIM:615157
HP:0002313	Spastic paraparesis	9255	AIMP1	OMIM:260600
HP:0002313	Spastic paraparesis	3425	IDUA	ORPHA:93474
HP:0002313	Spastic paraparesis	3425	IDUA	ORPHA:93473
HP:0002313	Spastic paraparesis	57165	GJC2	OMIM:608804
HP:0002313	Spastic paraparesis	2581	GALC	ORPHA:206443
HP:0002313	Spastic paraparesis	54880	BCOR	OMIM:300166
HP:0002313	Spastic paraparesis	2670	GFAP	ORPHA:363722
HP:0002313	Spastic paraparesis	440193	CCDC88C	OMIM:616053
HP:0002313	Spastic paraparesis	440193	CCDC88C	ORPHA:423275
HP:0002313	Spastic paraparesis	80207	OPA3	ORPHA:67047
HP:0002313	Spastic paraparesis	125988	MICOS13	ORPHA:67047
HP:0002313	Spastic paraparesis	80347	COASY	OMIM:615643
HP:0002313	Spastic paraparesis	80347	COASY	ORPHA:397725
HP:0002313	Spastic paraparesis	9409	PEX16	OMIM:614877
HP:0002313	Spastic paraparesis	3145	HMBS	OMIM:620711
HP:0002313	Spastic paraparesis	1910	EDNRB	OMIM:277580
HP:0002313	Spastic paraparesis	11152	WDR45	ORPHA:329284
HP:0002313	Spastic paraparesis	11152	WDR45	OMIM:300894
HP:0002313	Spastic paraparesis	93587	TRMT10A	ORPHA:391408
HP:0002313	Spastic paraparesis	84919	PPP1R15B	ORPHA:391408
HP:0002313	Spastic paraparesis	6663	SOX10	OMIM:609136
HP:0002313	Spastic paraparesis	5354	PLP1	ORPHA:280229
HP:0002313	Spastic paraparesis	10166	SLC25A15	OMIM:238970
HP:0002313	Spastic paraparesis	51324	SPG21	OMIM:248900
HP:0002313	Spastic paraparesis	55149	MTPAP	OMIM:613672
HP:0002313	Spastic paraparesis	55149	MTPAP	ORPHA:254343
HP:0002313	Spastic paraparesis	6389	SDHA	ORPHA:3208
HP:0002313	Spastic paraparesis	6390	SDHB	ORPHA:3208
HP:0002313	Spastic paraparesis	6392	SDHD	ORPHA:3208
HP:0002313	Spastic paraparesis	644096	SDHAF1	ORPHA:3208
HP:0002313	Spastic paraparesis	10939	AFG3L2	OMIM:614487
HP:0002313	Spastic paraparesis	10939	AFG3L2	ORPHA:313772
HP:0002313	Spastic paraparesis	383	ARG1	OMIM:207800
HP:0002313	Spastic paraparesis	2806	GOT2	OMIM:618721
HP:0002313	Spastic paraparesis	84188	FAR1	OMIM:619338
HP:0002313	Spastic paraparesis	686	BTD	ORPHA:79241
HP:0002313	Spastic paraparesis	25978	CHMP2B	ORPHA:803
HP:0002313	Spastic paraparesis	3178	HNRNPA1	ORPHA:803
HP:0002313	Spastic paraparesis	8148	TAF15	ORPHA:803
HP:0002313	Spastic paraparesis	5445	PON2	ORPHA:803
HP:0002313	Spastic paraparesis	9217	VAPB	ORPHA:803
HP:0002313	Spastic paraparesis	8878	SQSTM1	ORPHA:803
HP:0002313	Spastic paraparesis	5630	PRPH	ORPHA:803
HP:0002313	Spastic paraparesis	29110	TBK1	ORPHA:803
HP:0002313	Spastic paraparesis	55830	GLT8D1	ORPHA:803
HP:0002313	Spastic paraparesis	755	CFAP410	ORPHA:803
HP:0002313	Spastic paraparesis	10891	PPARGC1A	ORPHA:803
HP:0002313	Spastic paraparesis	6647	SOD1	ORPHA:803
HP:0002313	Spastic paraparesis	10133	OPTN	ORPHA:803
HP:0002313	Spastic paraparesis	1639	DCTN1	ORPHA:803
HP:0002313	Spastic paraparesis	9896	FIG4	ORPHA:803
HP:0002313	Spastic paraparesis	5444	PON1	ORPHA:803
HP:0002313	Spastic paraparesis	5446	PON3	ORPHA:803
HP:0002313	Spastic paraparesis	4744	NEFH	ORPHA:803
HP:0002313	Spastic paraparesis	5216	PFN1	ORPHA:803
HP:0002313	Spastic paraparesis	9782	MATR3	ORPHA:803
HP:0002313	Spastic paraparesis	54209	TREM2	ORPHA:803
HP:0002313	Spastic paraparesis	7415	VCP	ORPHA:803
HP:0002313	Spastic paraparesis	283	ANG	ORPHA:803
HP:0002313	Spastic paraparesis	23435	TARDBP	ORPHA:803
HP:0002313	Spastic paraparesis	29978	UBQLN2	ORPHA:803
HP:0002313	Spastic paraparesis	2733	GLE1	ORPHA:803
HP:0002313	Spastic paraparesis	2521	FUS	ORPHA:803
HP:0002313	Spastic paraparesis	4750	NEK1	ORPHA:803
HP:0002313	Spastic paraparesis	6311	ATXN2	ORPHA:803
HP:0002313	Spastic paraparesis	1610	DAO	ORPHA:803
HP:0002313	Spastic paraparesis	2066	ERBB4	ORPHA:803
HP:0002313	Spastic paraparesis	311	ANXA11	ORPHA:803
HP:0002313	Spastic paraparesis	23025	UNC13A	ORPHA:803
HP:0002313	Spastic paraparesis	899	CCNF	ORPHA:803
HP:0002313	Spastic paraparesis	400916	CHCHD10	ORPHA:803
HP:0002313	Spastic paraparesis	5428	POLG	ORPHA:726
HP:0002313	Spastic paraparesis	23389	MED13L	ORPHA:369891
HP:0002313	Spastic paraparesis	7276	TTR	OMIM:105210
HP:0002313	Spastic paraparesis	2697	GJA1	ORPHA:2710
HP:0002313	Spastic paraparesis	224	ALDH3A2	OMIM:270200
HP:0002313	Spastic paraparesis	4860	PNP	ORPHA:760
HP:0002313	Spastic paraparesis	58497	PRUNE1	ORPHA:544469
HP:0002313	Spastic paraparesis	9907	AP5Z1	OMIM:613647
HP:0002313	Spastic paraparesis	10535	RNASEH2A	ORPHA:51
HP:0002313	Spastic paraparesis	84153	RNASEH2C	ORPHA:51
HP:0002313	Spastic paraparesis	25939	SAMHD1	ORPHA:51
HP:0002313	Spastic paraparesis	79621	RNASEH2B	ORPHA:51
HP:0002313	Spastic paraparesis	103	ADAR	ORPHA:51
HP:0002313	Spastic paraparesis	11277	TREX1	ORPHA:51
HP:0002313	Spastic paraparesis	100147744	RNU7-1	ORPHA:51
HP:0002313	Spastic paraparesis	134353	LSM11	ORPHA:51
HP:0002313	Spastic paraparesis	64135	IFIH1	ORPHA:51
HP:0002313	Spastic paraparesis	2629	GBA1	OMIM:231000
HP:0002313	Spastic paraparesis	126129	CPT1C	ORPHA:444099
HP:0002313	Spastic paraparesis	85465	SELENOI	ORPHA:506353
HP:0002313	Spastic paraparesis	6687	SPG7	ORPHA:35689
HP:0002313	Spastic paraparesis	79152	FA2H	ORPHA:329308
HP:0002313	Spastic paraparesis	215	ABCD1	ORPHA:139399
HP:0002313	Spastic paraparesis	6905	TBCE	ORPHA:496756
HP:0002076	Migraine	7291	TWIST1	ORPHA:794
HP:0002076	Migraine	2263	FGFR2	ORPHA:794
HP:0002076	Migraine	2261	FGFR3	ORPHA:794
HP:0002076	Migraine	2261	FGFR3	ORPHA:93262
HP:0002076	Migraine	94	ACVRL1	OMIM:600376
HP:0002076	Migraine	94	ACVRL1	ORPHA:774
HP:0002076	Migraine	4088	SMAD3	ORPHA:284984
HP:0002076	Migraine	4088	SMAD3	OMIM:613795
HP:0002076	Migraine	291	SLC25A4	ORPHA:254892
HP:0002076	Migraine	5428	POLG	ORPHA:254892
HP:0002076	Migraine	5428	POLG	ORPHA:254881
HP:0002076	Migraine	5428	POLG	ORPHA:70595
HP:0002076	Migraine	5428	POLG	OMIM:607459
HP:0002076	Migraine	56652	TWNK	ORPHA:254892
HP:0002076	Migraine	56652	TWNK	ORPHA:70595
HP:0002076	Migraine	56652	TWNK	OMIM:271245
HP:0002076	Migraine	56652	TWNK	OMIM:607459
HP:0002076	Migraine	11232	POLG2	ORPHA:254892
HP:0002076	Migraine	50484	RRM2B	ORPHA:254892
HP:0002076	Migraine	50484	RRM2B	ORPHA:329336
HP:0002076	Migraine	25970	SH2B1	ORPHA:261222
HP:0002076	Migraine	4558	MT-TF	ORPHA:550
HP:0002076	Migraine	4558	MT-TF	OMIM:540000
HP:0002076	Migraine	4572	MT-TQ	ORPHA:550
HP:0002076	Migraine	4572	MT-TQ	OMIM:540000
HP:0002076	Migraine	4512	MT-CO1	ORPHA:550
HP:0002076	Migraine	4512	MT-CO1	OMIM:540000
HP:0002076	Migraine	4513	MT-CO2	ORPHA:550
HP:0002076	Migraine	4513	MT-CO2	OMIM:540000
HP:0002076	Migraine	4514	MT-CO3	ORPHA:550
HP:0002076	Migraine	4514	MT-CO3	OMIM:540000
HP:0002076	Migraine	4578	MT-TW	ORPHA:550
HP:0002076	Migraine	4578	MT-TW	OMIM:540000
HP:0002076	Migraine	4540	MT-ND5	ORPHA:550
HP:0002076	Migraine	4540	MT-ND5	OMIM:540000
HP:0002076	Migraine	4541	MT-ND6	ORPHA:550
HP:0002076	Migraine	4541	MT-ND6	OMIM:540000
HP:0002076	Migraine	4535	MT-ND1	ORPHA:550
HP:0002076	Migraine	4535	MT-ND1	OMIM:540000
HP:0002076	Migraine	4538	MT-ND4	ORPHA:550
HP:0002076	Migraine	4567	MT-TL1	ORPHA:550
HP:0002076	Migraine	4567	MT-TL1	OMIM:540000
HP:0002076	Migraine	4574	MT-TS1	ORPHA:550
HP:0002076	Migraine	4574	MT-TS1	OMIM:540000
HP:0002076	Migraine	4575	MT-TS2	ORPHA:550
HP:0002076	Migraine	4575	MT-TS2	OMIM:540000
HP:0002076	Migraine	4564	MT-TH	ORPHA:550
HP:0002076	Migraine	2811	GP1BA	ORPHA:274
HP:0002076	Migraine	2812	GP1BB	ORPHA:274
HP:0002076	Migraine	2815	GP9	ORPHA:274
HP:0002076	Migraine	246243	RNASEH1	ORPHA:329336
HP:0002076	Migraine	6513	SLC2A1	OMIM:612126
HP:0002076	Migraine	6513	SLC2A1	OMIM:601042
HP:0002076	Migraine	79903	NAA60	OMIM:620786
HP:0002076	Migraine	23600	AMACR	OMIM:614307
HP:0002076	Migraine	23600	AMACR	ORPHA:79095
HP:0002076	Migraine	51816	ADA2	ORPHA:820
HP:0002076	Migraine	773	CACNA1A	OMIM:108500
HP:0002076	Migraine	773	CACNA1A	ORPHA:97
HP:0002076	Migraine	773	CACNA1A	ORPHA:71518
HP:0002076	Migraine	773	CACNA1A	OMIM:141500
HP:0002076	Migraine	6507	SLC1A3	ORPHA:209967
HP:0002076	Migraine	6507	SLC1A3	OMIM:612656
HP:0002076	Migraine	4072	EPCAM	ORPHA:144
HP:0002076	Migraine	4292	MLH1	ORPHA:144
HP:0002076	Migraine	5395	PMS2	ORPHA:144
HP:0002076	Migraine	7048	TGFBR2	ORPHA:144
HP:0002076	Migraine	3845	KRAS	ORPHA:144
HP:0002076	Migraine	5290	PIK3CA	ORPHA:144
HP:0002076	Migraine	2956	MSH6	ORPHA:144
HP:0002076	Migraine	5378	PMS1	ORPHA:144
HP:0002076	Migraine	4436	MSH2	ORPHA:144
HP:0002076	Migraine	351	APP	ORPHA:324713
HP:0002076	Migraine	351	APP	ORPHA:324703
HP:0002076	Migraine	5155	PDGFB	OMIM:615483
HP:0002076	Migraine	64218	SEMA4A	ORPHA:440437
HP:0002076	Migraine	472	ATM	ORPHA:440437
HP:0002076	Migraine	5426	POLE	ORPHA:440437
HP:0002076	Migraine	675	BRCA2	ORPHA:440437
HP:0002076	Migraine	657	BMPR1A	ORPHA:440437
HP:0002076	Migraine	6224	RPS20	ORPHA:440437
HP:0002076	Migraine	4595	MUTYH	ORPHA:440437
HP:0002076	Migraine	5424	POLD1	ORPHA:440437
HP:0002076	Migraine	11200	CHEK2	ORPHA:440437
HP:0002076	Migraine	3350	HTR1A	OMIM:614674
HP:0002076	Migraine	5159	PDGFRB	OMIM:615007
HP:0002076	Migraine	1289	COL5A1	OMIM:619329
HP:0002076	Migraine	7132	TNFRSF1A	ORPHA:32960
HP:0002076	Migraine	10059	DNM1L	ORPHA:98673
HP:0002076	Migraine	4976	OPA1	ORPHA:98673
HP:0002076	Migraine	4976	OPA1	ORPHA:1215
HP:0002076	Migraine	4519	MT-CYB	OMIM:540000
HP:0002076	Migraine	4511	MT-TC	OMIM:540000
HP:0002076	Migraine	4577	MT-TV	OMIM:540000
HP:0002076	Migraine	4566	MT-TK	OMIM:540000
HP:0002076	Migraine	2022	ENG	OMIM:187300
HP:0002076	Migraine	2022	ENG	ORPHA:774
HP:0002076	Migraine	182	JAG1	OMIM:619574
HP:0002076	Migraine	9692	PRORP	OMIM:619737
HP:0002076	Migraine	55107	ANO1	OMIM:620687
HP:0002076	Migraine	11145	PLAAT3	OMIM:620683
HP:0002076	Migraine	83550	GPR101	ORPHA:963
HP:0002076	Migraine	9049	AIP	ORPHA:963
HP:0002076	Migraine	1281	COL3A1	ORPHA:286
HP:0002076	Migraine	58472	SQOR	OMIM:619221
HP:0002076	Migraine	92949	ADAMTSL1	ORPHA:521445
HP:0002076	Migraine	65998	ZFTA	ORPHA:251636
HP:0002076	Migraine	114548	NLRP3	ORPHA:1451
HP:0002076	Migraine	5230	PGK1	ORPHA:713
HP:0002076	Migraine	5230	PGK1	OMIM:300653
HP:0002076	Migraine	112476	PRRT2	OMIM:605751
HP:0002076	Migraine	112476	PRRT2	ORPHA:98809
HP:0002076	Migraine	80216	ALPK1	OMIM:614979
HP:0002076	Migraine	4763	NF1	ORPHA:97685
HP:0002076	Migraine	10528	NOP56	ORPHA:276198
HP:0002076	Migraine	4854	NOTCH3	OMIM:125310
HP:0002076	Migraine	4854	NOTCH3	ORPHA:136
HP:0002076	Migraine	477	ATP1A2	OMIM:602481
HP:0002076	Migraine	11277	TREX1	OMIM:192315
HP:0002076	Migraine	11277	TREX1	ORPHA:247691
HP:0002076	Migraine	3736	KCNA1	ORPHA:98809
HP:0002076	Migraine	1282	COL4A1	OMIM:175780
HP:0002076	Migraine	4784	NFIX	ORPHA:420179
HP:0002076	Migraine	51684	SUFU	OMIM:620343
HP:0002076	Migraine	8405	SPOP	OMIM:618829
HP:0002076	Migraine	4598	MVK	ORPHA:343
HP:0002076	Migraine	56910	STARD7	OMIM:607876
HP:0002076	Migraine	9508	ADAMTS3	OMIM:618154
HP:0002076	Migraine	6786	STIM1	OMIM:185070
HP:0002076	Migraine	2050	EPHB4	ORPHA:137667
HP:0002076	Migraine	5921	RASA1	ORPHA:137667
HP:0002076	Migraine	57462	MYORG	OMIM:618317
HP:0002076	Migraine	50485	SMARCAL1	OMIM:242900
HP:0002076	Migraine	6598	SMARCB1	ORPHA:99966
HP:0002076	Migraine	2658	GDF2	ORPHA:774
HP:0002076	Migraine	4089	SMAD4	ORPHA:774
HP:0002076	Migraine	1512	CTSH	ORPHA:2073
HP:0002076	Migraine	5032	P2RY11	ORPHA:2073
HP:0002076	Migraine	4340	MOG	ORPHA:2073
HP:0002076	Migraine	3119	HLA-DQB1	ORPHA:2073
HP:0002076	Migraine	3060	HCRT	ORPHA:2073
HP:0002076	Migraine	22891	ZNF365	ORPHA:2073
HP:0002076	Migraine	7292	TNFSF4	ORPHA:2073
HP:0002076	Migraine	3123	HLA-DRB1	ORPHA:2073
HP:0002076	Migraine	1315	COPB1	OMIM:619255
HP:0002076	Migraine	340024	SLC6A19	ORPHA:2116
HP:0002076	Migraine	57393	CLTRN	ORPHA:2116
HP:0002076	Migraine	4087	SMAD2	OMIM:619656
HP:0002076	Migraine	54148	MRPL39	OMIM:620646
HP:0002076	Migraine	8799	PEX11B	OMIM:614920
HP:0002076	Migraine	2624	GATA2	ORPHA:228423
HP:0002076	Migraine	3593	IL12B	ORPHA:3287
HP:0002076	Migraine	3106	HLA-B	ORPHA:3287
HP:0002076	Migraine	3106	HLA-B	ORPHA:117
HP:0002076	Migraine	6945	MLX	ORPHA:3287
HP:0002076	Migraine	27286	SRPX2	ORPHA:1945
HP:0002076	Migraine	2903	GRIN2A	ORPHA:1945
HP:0002076	Migraine	2566	GABRG2	ORPHA:1945
HP:0002076	Migraine	4693	NDP	ORPHA:649
HP:0002076	Migraine	84978	FRMD5	OMIM:620094
HP:0002076	Migraine	197322	ACSF3	ORPHA:289504
HP:0002076	Migraine	4615	MYD88	ORPHA:33226
HP:0002076	Migraine	5649	RELN	ORPHA:101046
HP:0002076	Migraine	9211	LGI1	ORPHA:101046
HP:0002076	Migraine	9681	DEPDC5	ORPHA:101046
HP:0002076	Migraine	10019	SH2B3	ORPHA:3318
HP:0002076	Migraine	811	CALR	ORPHA:3318
HP:0002076	Migraine	7157	TP53	ORPHA:3318
HP:0002076	Migraine	4352	MPL	ORPHA:3318
HP:0002076	Migraine	3717	JAK2	ORPHA:3318
HP:0002076	Migraine	54790	TET2	ORPHA:3318
HP:0002076	Migraine	1453	CSNK1D	OMIM:615224
HP:0002076	Migraine	149233	IL23R	ORPHA:117
HP:0002076	Migraine	6775	STAT4	ORPHA:117
HP:0002076	Migraine	3586	IL10	ORPHA:117
HP:0002076	Migraine	4210	MEFV	ORPHA:117
HP:0002076	Migraine	1230	CCR1	ORPHA:117
HP:0002076	Migraine	355	FAS	ORPHA:117
HP:0002076	Migraine	3592	IL12A	ORPHA:117
HP:0002076	Migraine	101928376	IL12A-AS1	ORPHA:117
HP:0002076	Migraine	7099	TLR4	ORPHA:117
HP:0002076	Migraine	3459	IFNGR1	ORPHA:117
HP:0002076	Migraine	720	C4A	ORPHA:117
HP:0002076	Migraine	337867	UBAC2	ORPHA:117
HP:0002076	Migraine	51752	ERAP1	ORPHA:117
HP:0002076	Migraine	8302	KLRC4	ORPHA:117
HP:0002076	Migraine	1909	EDNRA	OMIM:157300
HP:0002076	Migraine	2099	ESR1	OMIM:157300
HP:0002076	Migraine	7124	TNF	OMIM:157300
HP:0002076	Migraine	338567	KCNK18	OMIM:613656
HP:0002076	Migraine	6323	SCN1A	OMIM:609634
HP:0002076	Migraine	6323	SCN1A	ORPHA:569
HP:0012490	Panniculitis	56984	PSMG2	OMIM:619183
HP:0012490	Panniculitis	114803	MYSM1	ORPHA:508542
HP:0012490	Panniculitis	355	FAS	ORPHA:3261
HP:0012490	Panniculitis	356	FASLG	ORPHA:3261
HP:0012490	Panniculitis	843	CASP10	ORPHA:3261
HP:0012490	Panniculitis	84868	HAVCR2	OMIM:618398
HP:0012490	Panniculitis	84868	HAVCR2	ORPHA:86884
HP:0012490	Panniculitis	90268	OTULIN	OMIM:617099
HP:0012490	Panniculitis	139818	DOCK11	OMIM:301109
HP:0012490	Panniculitis	5692	PSMB4	OMIM:617591
HP:0012490	Panniculitis	51816	ADA2	OMIM:615688
HP:0012490	Panniculitis	3832	KIF11	ORPHA:2526
HP:0012490	Panniculitis	92579	G6PC3	OMIM:612541
HP:0012490	Panniculitis	3932	LCK	OMIM:615758
HP:0012490	Panniculitis	8517	IKBKG	OMIM:301081
HP:0012490	Panniculitis	5696	PSMB8	OMIM:256040
HP:0012490	Panniculitis	5265	SERPINA1	ORPHA:60
HP:0012490	Panniculitis	4210	MEFV	ORPHA:3243
HP:0012490	Panniculitis	4210	MEFV	OMIM:608068
HP:0012490	Panniculitis	5777	PTPN6	ORPHA:3243
HP:0012490	Panniculitis	10535	RNASEH2A	ORPHA:51
HP:0012490	Panniculitis	84153	RNASEH2C	ORPHA:51
HP:0012490	Panniculitis	25939	SAMHD1	ORPHA:51
HP:0012490	Panniculitis	79621	RNASEH2B	ORPHA:51
HP:0012490	Panniculitis	103	ADAR	ORPHA:51
HP:0012490	Panniculitis	11277	TREX1	ORPHA:51
HP:0012490	Panniculitis	100147744	RNU7-1	ORPHA:51
HP:0012490	Panniculitis	134353	LSM11	ORPHA:51
HP:0012490	Panniculitis	64135	IFIH1	ORPHA:51
HP:0012492	Cerebral artery stenosis	4763	NF1	ORPHA:97685
HP:0012492	Cerebral artery stenosis	4629	MYH11	OMIM:132900
HP:0012492	Cerebral artery stenosis	55107	ANO1	OMIM:620687
HP:0012493	Middle cerebral artery stenosis	4629	MYH11	OMIM:132900
HP:0012494	Anterior cerebral artery stenosis	4629	MYH11	OMIM:132900
HP:0012495	Posterior cerebral artery stenosis	4629	MYH11	OMIM:132900
HP:0012495	Posterior cerebral artery stenosis	55107	ANO1	OMIM:620687
HP:0012496	Reduced maximal inspiratory pressure	9499	MYOT	ORPHA:266
HP:0012497	Reduced maximal expiratory pressure	1303	COL12A1	ORPHA:610
HP:0012497	Reduced maximal expiratory pressure	1291	COL6A1	ORPHA:610
HP:0012497	Reduced maximal expiratory pressure	1292	COL6A2	ORPHA:610
HP:0012497	Reduced maximal expiratory pressure	1293	COL6A3	ORPHA:610
HP:0012498	Nuchal cord	10588	MTHFS	OMIM:618367
HP:0012498	Nuchal cord	6711	SPTBN1	OMIM:619475
HP:0012499	Descending aortic dissection	1281	COL3A1	OMIM:130050
HP:0012499	Descending aortic dissection	2301	FOXE3	OMIM:617349
HP:0012499	Descending aortic dissection	2301	FOXE3	ORPHA:91387
HP:0012499	Descending aortic dissection	4088	SMAD3	OMIM:613795
HP:0012499	Descending aortic dissection	4088	SMAD3	ORPHA:91387
HP:0012499	Descending aortic dissection	4629	MYH11	OMIM:132900
HP:0012499	Descending aortic dissection	4629	MYH11	ORPHA:229
HP:0012499	Descending aortic dissection	4629	MYH11	ORPHA:91387
HP:0012499	Descending aortic dissection	7048	TGFBR2	OMIM:610168
HP:0012499	Descending aortic dissection	7048	TGFBR2	ORPHA:91387
HP:0012499	Descending aortic dissection	11117	EMILIN1	OMIM:620080
HP:0012499	Descending aortic dissection	5592	PRKG1	OMIM:615436
HP:0012499	Descending aortic dissection	5592	PRKG1	ORPHA:91387
HP:0012499	Descending aortic dissection	59	ACTA2	OMIM:611788
HP:0012499	Descending aortic dissection	59	ACTA2	ORPHA:91387
HP:0012499	Descending aortic dissection	7046	TGFBR1	ORPHA:91387
HP:0012499	Descending aortic dissection	4015	LOX	ORPHA:91387
HP:0012499	Descending aortic dissection	4087	SMAD2	ORPHA:91387
HP:0012499	Descending aortic dissection	7043	TGFB3	ORPHA:91387
HP:0012499	Descending aortic dissection	7042	TGFB2	ORPHA:91387
HP:0012499	Descending aortic dissection	4089	SMAD4	ORPHA:91387
HP:0012499	Descending aortic dissection	2200	FBN1	ORPHA:91387
HP:0012499	Descending aortic dissection	4144	MAT2A	ORPHA:91387
HP:0012499	Descending aortic dissection	23493	HEY2	ORPHA:91387
HP:0012499	Descending aortic dissection	8076	MFAP5	ORPHA:91387
HP:0012499	Descending aortic dissection	4638	MYLK	ORPHA:91387
HP:0012499	Descending aortic dissection	4638	MYLK	OMIM:613780
HP:0012499	Descending aortic dissection	79875	THSD4	ORPHA:91387
HP:0012499	Descending aortic dissection	2006	ELN	ORPHA:91387
HP:0010864	Intellectual disability, severe	7528	YY1	ORPHA:506358
HP:0010864	Intellectual disability, severe	2218	FKTN	ORPHA:272
HP:0010864	Intellectual disability, severe	2218	FKTN	OMIM:236670
HP:0010864	Intellectual disability, severe	11253	MAN1B1	ORPHA:397941
HP:0010864	Intellectual disability, severe	4204	MECP2	ORPHA:1762
HP:0010864	Intellectual disability, severe	4204	MECP2	ORPHA:3077
HP:0010864	Intellectual disability, severe	4204	MECP2	OMIM:300673
HP:0010864	Intellectual disability, severe	4204	MECP2	OMIM:300055
HP:0010864	Intellectual disability, severe	4204	MECP2	OMIM:300260
HP:0010864	Intellectual disability, severe	1788	DNMT3A	ORPHA:404443
HP:0010864	Intellectual disability, severe	51	ACOX1	ORPHA:2971
HP:0010864	Intellectual disability, severe	51	ACOX1	OMIM:264470
HP:0010864	Intellectual disability, severe	10084	PQBP1	ORPHA:93950
HP:0010864	Intellectual disability, severe	3190	HNRNPK	ORPHA:453504
HP:0010864	Intellectual disability, severe	3190	HNRNPK	ORPHA:352665
HP:0010864	Intellectual disability, severe	2593	GAMT	ORPHA:382
HP:0010864	Intellectual disability, severe	2593	GAMT	OMIM:612736
HP:0010864	Intellectual disability, severe	166378	AFG2A	OMIM:616577
HP:0010864	Intellectual disability, severe	166378	AFG2A	ORPHA:457351
HP:0010864	Intellectual disability, severe	10501	SEMA6B	OMIM:618876
HP:0010864	Intellectual disability, severe	54681	P4HTM	ORPHA:436141
HP:0010864	Intellectual disability, severe	2132	EXT2	ORPHA:466926
HP:0010864	Intellectual disability, severe	57231	SNX14	ORPHA:397709
HP:0010864	Intellectual disability, severe	5189	PEX1	OMIM:214100
HP:0010864	Intellectual disability, severe	55650	PIGV	OMIM:239300
HP:0010864	Intellectual disability, severe	55650	PIGV	ORPHA:247262
HP:0010864	Intellectual disability, severe	284403	WDR62	OMIM:604317
HP:0010864	Intellectual disability, severe	284403	WDR62	ORPHA:2512
HP:0010864	Intellectual disability, severe	2590	GALNT2	OMIM:618885
HP:0010864	Intellectual disability, severe	818	CAMK2G	OMIM:618522
HP:0010864	Intellectual disability, severe	284058	KANSL1	ORPHA:363958
HP:0010864	Intellectual disability, severe	284058	KANSL1	ORPHA:363965
HP:0010864	Intellectual disability, severe	3064	HTT	OMIM:617435
HP:0010864	Intellectual disability, severe	7994	KAT6A	ORPHA:457193
HP:0010864	Intellectual disability, severe	9326	ZNHIT3	ORPHA:2836
HP:0010864	Intellectual disability, severe	1183	CLCN4	ORPHA:485350
HP:0010864	Intellectual disability, severe	5354	PLP1	ORPHA:280210
HP:0010864	Intellectual disability, severe	5354	PLP1	ORPHA:280224
HP:0010864	Intellectual disability, severe	23096	IQSEC2	ORPHA:397933
HP:0010864	Intellectual disability, severe	1605	DAG1	ORPHA:280333
HP:0010864	Intellectual disability, severe	1605	DAG1	ORPHA:370997
HP:0010864	Intellectual disability, severe	171023	ASXL1	ORPHA:97297
HP:0010864	Intellectual disability, severe	10815	CPLX1	ORPHA:280
HP:0010864	Intellectual disability, severe	10815	CPLX1	OMIM:194190
HP:0010864	Intellectual disability, severe	54872	PIGG	ORPHA:280
HP:0010864	Intellectual disability, severe	7469	NELFA	ORPHA:280
HP:0010864	Intellectual disability, severe	1487	CTBP1	ORPHA:280
HP:0010864	Intellectual disability, severe	1487	CTBP1	OMIM:194190
HP:0010864	Intellectual disability, severe	3954	LETM1	ORPHA:280
HP:0010864	Intellectual disability, severe	3954	LETM1	OMIM:194190
HP:0010864	Intellectual disability, severe	7468	NSD2	ORPHA:280
HP:0010864	Intellectual disability, severe	7468	NSD2	OMIM:194190
HP:0010864	Intellectual disability, severe	1501	CTNND2	ORPHA:281
HP:0010864	Intellectual disability, severe	9037	SEMA5A	ORPHA:281
HP:0010864	Intellectual disability, severe	84314	TMEM107	OMIM:617563
HP:0010864	Intellectual disability, severe	2903	GRIN2A	ORPHA:289266
HP:0010864	Intellectual disability, severe	1482	NKX2-5	OMIM:225250
HP:0010864	Intellectual disability, severe	1482	NKX2-5	ORPHA:95713
HP:0010864	Intellectual disability, severe	1482	NKX2-5	ORPHA:95712
HP:0010864	Intellectual disability, severe	11193	WBP4	OMIM:620852
HP:0010864	Intellectual disability, severe	26834	RNU4-2	OMIM:620851
HP:0010864	Intellectual disability, severe	4247	MGAT2	OMIM:212066
HP:0010864	Intellectual disability, severe	5518	PPP2R1A	OMIM:616362
HP:0010864	Intellectual disability, severe	2261	FGFR3	OMIM:616482
HP:0010864	Intellectual disability, severe	2261	FGFR3	ORPHA:85165
HP:0010864	Intellectual disability, severe	29081	METTL5	OMIM:618665
HP:0010864	Intellectual disability, severe	29081	METTL5	ORPHA:2512
HP:0010864	Intellectual disability, severe	10717	AP4B1	OMIM:614066
HP:0010864	Intellectual disability, severe	10717	AP4B1	ORPHA:280763
HP:0010864	Intellectual disability, severe	84879	MFSD2A	OMIM:616486
HP:0010864	Intellectual disability, severe	84879	MFSD2A	ORPHA:2512
HP:0010864	Intellectual disability, severe	11154	AP4S1	OMIM:614067
HP:0010864	Intellectual disability, severe	11154	AP4S1	ORPHA:280763
HP:0010864	Intellectual disability, severe	55773	TBC1D23	OMIM:617695
HP:0010864	Intellectual disability, severe	57680	CHD8	OMIM:615032
HP:0010864	Intellectual disability, severe	51633	OTUD6B	OMIM:617452
HP:0010864	Intellectual disability, severe	51633	OTUD6B	ORPHA:505237
HP:0010864	Intellectual disability, severe	27089	UQCRQ	OMIM:615159
HP:0010864	Intellectual disability, severe	9354	UBE4A	OMIM:619639
HP:0010864	Intellectual disability, severe	1660	DHX9	OMIM:620988
HP:0010864	Intellectual disability, severe	92609	TIMM50	OMIM:617698
HP:0010864	Intellectual disability, severe	92609	TIMM50	ORPHA:505216
HP:0010864	Intellectual disability, severe	6134	RPL10	ORPHA:459070
HP:0010864	Intellectual disability, severe	7337	UBE3A	OMIM:105830
HP:0010864	Intellectual disability, severe	7337	UBE3A	ORPHA:98794
HP:0010864	Intellectual disability, severe	6638	SNRPN	OMIM:105830
HP:0010864	Intellectual disability, severe	6638	SNRPN	ORPHA:177907
HP:0010864	Intellectual disability, severe	2517	FUCA1	ORPHA:349
HP:0010864	Intellectual disability, severe	9289	ADGRG1	ORPHA:101070
HP:0010864	Intellectual disability, severe	5728	PTEN	ORPHA:101070
HP:0010864	Intellectual disability, severe	2736	GLI2	OMIM:610829
HP:0010864	Intellectual disability, severe	54828	BCAS3	OMIM:619641
HP:0010864	Intellectual disability, severe	3800	KIF5C	OMIM:615282
HP:0010864	Intellectual disability, severe	27086	FOXP1	ORPHA:391372
HP:0010864	Intellectual disability, severe	6506	SLC1A2	OMIM:617105
HP:0010864	Intellectual disability, severe	10297	APC2	OMIM:618677
HP:0010864	Intellectual disability, severe	10297	APC2	ORPHA:821
HP:0010864	Intellectual disability, severe	2558	GABRA5	OMIM:618559
HP:0010864	Intellectual disability, severe	79633	FAT4	ORPHA:314679
HP:0010864	Intellectual disability, severe	8642	DCHS1	ORPHA:314679
HP:0010864	Intellectual disability, severe	6925	TCF4	OMIM:610954
HP:0010864	Intellectual disability, severe	2258	FGF13	OMIM:301095
HP:0010864	Intellectual disability, severe	38	ACAT1	ORPHA:134
HP:0010864	Intellectual disability, severe	23314	SATB2	ORPHA:576283
HP:0010864	Intellectual disability, severe	23314	SATB2	ORPHA:251028
HP:0010864	Intellectual disability, severe	23314	SATB2	ORPHA:251019
HP:0010864	Intellectual disability, severe	4208	MEF2C	ORPHA:228384
HP:0010864	Intellectual disability, severe	4208	MEF2C	OMIM:613443
HP:0010864	Intellectual disability, severe	7030	TFE3	OMIM:301066
HP:0010864	Intellectual disability, severe	197258	FCSK	OMIM:618324
HP:0010864	Intellectual disability, severe	9922	IQSEC1	OMIM:618687
HP:0010864	Intellectual disability, severe	85365	ALG2	OMIM:607906
HP:0010864	Intellectual disability, severe	111	ADCY5	OMIM:619651
HP:0010864	Intellectual disability, severe	388662	SLC6A17	OMIM:616269
HP:0010864	Intellectual disability, severe	388662	SLC6A17	ORPHA:457212
HP:0010864	Intellectual disability, severe	23499	MACF1	OMIM:618325
HP:0010864	Intellectual disability, severe	23499	MACF1	ORPHA:572013
HP:0010864	Intellectual disability, severe	284111	SLC13A5	ORPHA:1946
HP:0010864	Intellectual disability, severe	79641	ROGDI	ORPHA:1946
HP:0010864	Intellectual disability, severe	79641	ROGDI	OMIM:226750
HP:0010864	Intellectual disability, severe	9526	MPDU1	ORPHA:79323
HP:0010864	Intellectual disability, severe	3756	KCNH1	OMIM:611816
HP:0010864	Intellectual disability, severe	3756	KCNH1	OMIM:135500
HP:0010864	Intellectual disability, severe	3756	KCNH1	ORPHA:420561
HP:0010864	Intellectual disability, severe	6595	SMARCA2	OMIM:601358
HP:0010864	Intellectual disability, severe	26100	WIPI2	OMIM:618453
HP:0010864	Intellectual disability, severe	51645	PPIL1	OMIM:619301
HP:0010864	Intellectual disability, severe	1917	EEF1A2	OMIM:616393
HP:0010864	Intellectual disability, severe	51362	CDC40	OMIM:619302
HP:0010864	Intellectual disability, severe	5881	RAC3	OMIM:618577
HP:0010864	Intellectual disability, severe	5111	PCNA	ORPHA:438134
HP:0010864	Intellectual disability, severe	3763	KCNJ6	OMIM:614098
HP:0010864	Intellectual disability, severe	22930	RAB3GAP1	OMIM:619420
HP:0010864	Intellectual disability, severe	22930	RAB3GAP1	ORPHA:2510
HP:0010864	Intellectual disability, severe	58497	PRUNE1	ORPHA:544469
HP:0010864	Intellectual disability, severe	81603	TRIM8	OMIM:619428
HP:0010864	Intellectual disability, severe	3242	HPD	OMIM:276710
HP:0010864	Intellectual disability, severe	8905	AP1S2	OMIM:304340
HP:0010864	Intellectual disability, severe	2902	GRIN1	ORPHA:208447
HP:0010864	Intellectual disability, severe	2902	GRIN1	OMIM:617820
HP:0010864	Intellectual disability, severe	2902	GRIN1	OMIM:614254
HP:0010864	Intellectual disability, severe	5813	PURA	ORPHA:314655
HP:0010864	Intellectual disability, severe	54808	DYM	ORPHA:239
HP:0010864	Intellectual disability, severe	79944	L2HGDH	ORPHA:79314
HP:0010864	Intellectual disability, severe	11160	ERLIN2	ORPHA:280384
HP:0010864	Intellectual disability, severe	57526	PCDH19	ORPHA:101039
HP:0010864	Intellectual disability, severe	3155	HMGCL	ORPHA:20
HP:0010864	Intellectual disability, severe	51574	LARP7	OMIM:615071
HP:0010864	Intellectual disability, severe	51574	LARP7	ORPHA:319671
HP:0010864	Intellectual disability, severe	57459	GATAD2B	OMIM:615074
HP:0010864	Intellectual disability, severe	57459	GATAD2B	ORPHA:363686
HP:0010864	Intellectual disability, severe	79876	UBA5	OMIM:617132
HP:0010864	Intellectual disability, severe	10466	COG5	ORPHA:263487
HP:0010864	Intellectual disability, severe	84894	LINGO1	OMIM:618103
HP:0010864	Intellectual disability, severe	2775	GNAO1	OMIM:617493
HP:0010864	Intellectual disability, severe	56896	DPYSL5	OMIM:619435
HP:0010864	Intellectual disability, severe	10564	ARFGEF2	OMIM:608097
HP:0010864	Intellectual disability, severe	54973	INTS11	OMIM:620428
HP:0010864	Intellectual disability, severe	55628	ZNF407	OMIM:619557
HP:0010864	Intellectual disability, severe	2737	GLI3	ORPHA:36
HP:0010864	Intellectual disability, severe	374654	KIF7	ORPHA:36
HP:0010864	Intellectual disability, severe	374654	KIF7	OMIM:200990
HP:0010864	Intellectual disability, severe	128869	PIGU	OMIM:618590
HP:0010864	Intellectual disability, severe	51412	ACTL6B	OMIM:618470
HP:0010864	Intellectual disability, severe	2972	BRF1	ORPHA:444072
HP:0010864	Intellectual disability, severe	6567	SLC16A2	OMIM:300523
HP:0010864	Intellectual disability, severe	6567	SLC16A2	ORPHA:59
HP:0010864	Intellectual disability, severe	79868	ALG13	OMIM:300884
HP:0010864	Intellectual disability, severe	6651	SON	OMIM:617140
HP:0010864	Intellectual disability, severe	6651	SON	ORPHA:500150
HP:0010864	Intellectual disability, severe	8492	PRSS12	OMIM:249500
HP:0010864	Intellectual disability, severe	112939	NACC1	ORPHA:500545
HP:0010864	Intellectual disability, severe	1760	DMPK	OMIM:160900
HP:0010864	Intellectual disability, severe	7846	TUBA1A	OMIM:611603
HP:0010864	Intellectual disability, severe	3767	KCNJ11	ORPHA:99885
HP:0010864	Intellectual disability, severe	6774	STAT3	ORPHA:99885
HP:0010864	Intellectual disability, severe	2645	GCK	ORPHA:99885
HP:0010864	Intellectual disability, severe	3651	PDX1	ORPHA:99885
HP:0010864	Intellectual disability, severe	6833	ABCC8	ORPHA:99885
HP:0010864	Intellectual disability, severe	3630	INS	ORPHA:99885
HP:0010864	Intellectual disability, severe	9179	AP4M1	OMIM:612936
HP:0010864	Intellectual disability, severe	9179	AP4M1	ORPHA:280763
HP:0010864	Intellectual disability, severe	29954	POMT2	OMIM:236670
HP:0010864	Intellectual disability, severe	29954	POMT2	ORPHA:370968
HP:0010864	Intellectual disability, severe	29954	POMT2	OMIM:613150
HP:0010864	Intellectual disability, severe	29954	POMT2	OMIM:613156
HP:0010864	Intellectual disability, severe	79147	FKRP	OMIM:236670
HP:0010864	Intellectual disability, severe	79147	FKRP	ORPHA:370968
HP:0010864	Intellectual disability, severe	10585	POMT1	OMIM:236670
HP:0010864	Intellectual disability, severe	10585	POMT1	ORPHA:370968
HP:0010864	Intellectual disability, severe	10585	POMT1	OMIM:613155
HP:0010864	Intellectual disability, severe	9215	LARGE1	OMIM:236670
HP:0010864	Intellectual disability, severe	9215	LARGE1	ORPHA:370968
HP:0010864	Intellectual disability, severe	387119	CEP85L	ORPHA:572013
HP:0010864	Intellectual disability, severe	10166	SLC25A15	OMIM:238970
HP:0010864	Intellectual disability, severe	29925	GMPPB	ORPHA:370968
HP:0010864	Intellectual disability, severe	4948	OCA2	ORPHA:98794
HP:0010864	Intellectual disability, severe	79709	COLGALT1	OMIM:618360
HP:0010864	Intellectual disability, severe	55777	MBD5	OMIM:156200
HP:0010864	Intellectual disability, severe	55777	MBD5	ORPHA:228402
HP:0010864	Intellectual disability, severe	8925	HERC1	ORPHA:457359
HP:0010864	Intellectual disability, severe	2664	GDI1	OMIM:300849
HP:0010864	Intellectual disability, severe	23229	ARHGEF9	OMIM:300607
HP:0010864	Intellectual disability, severe	3183	HNRNPC	OMIM:620688
HP:0010864	Intellectual disability, severe	6491	STIL	OMIM:612703
HP:0010864	Intellectual disability, severe	6491	STIL	ORPHA:2512
HP:0010864	Intellectual disability, severe	6821	SUOX	OMIM:272300
HP:0010864	Intellectual disability, severe	6045	RNF2	OMIM:619460
HP:0010864	Intellectual disability, severe	1781	DYNC1I2	OMIM:618492
HP:0010864	Intellectual disability, severe	10524	KAT5	OMIM:619103
HP:0010864	Intellectual disability, severe	2009	EML1	OMIM:600348
HP:0010864	Intellectual disability, severe	23522	KAT6B	OMIM:603736
HP:0010864	Intellectual disability, severe	6304	SATB1	OMIM:619229
HP:0010864	Intellectual disability, severe	57187	THOC2	ORPHA:457240
HP:0010864	Intellectual disability, severe	79644	SRD5A3	OMIM:612713
HP:0010864	Intellectual disability, severe	1974	EIF4A2	OMIM:620455
HP:0010864	Intellectual disability, severe	80185	TTI2	ORPHA:391307
HP:0010864	Intellectual disability, severe	80185	TTI2	OMIM:615541
HP:0010864	Intellectual disability, severe	3028	HSD17B10	ORPHA:391428
HP:0010864	Intellectual disability, severe	83480	PUS3	OMIM:617051
HP:0010864	Intellectual disability, severe	5281	PIGF	OMIM:619356
HP:0010864	Intellectual disability, severe	2290	FOXG1	ORPHA:261144
HP:0010864	Intellectual disability, severe	2290	FOXG1	OMIM:613454
HP:0010864	Intellectual disability, severe	8812	CCNK	OMIM:618147
HP:0010864	Intellectual disability, severe	2892	GRIA3	ORPHA:364028
HP:0010864	Intellectual disability, severe	2892	GRIA3	OMIM:300699
HP:0010864	Intellectual disability, severe	51604	PIGT	ORPHA:369837
HP:0010864	Intellectual disability, severe	8452	CUL3	OMIM:619239
HP:0010864	Intellectual disability, severe	4983	OPHN1	ORPHA:137831
HP:0010864	Intellectual disability, severe	527	ATP6V0C	OMIM:620465
HP:0010864	Intellectual disability, severe	1528	CYB5A	ORPHA:621
HP:0010864	Intellectual disability, severe	1727	CYB5R3	ORPHA:621
HP:0010864	Intellectual disability, severe	5058	PAK1	OMIM:618158
HP:0010864	Intellectual disability, severe	57477	SHROOM4	ORPHA:85288
HP:0010864	Intellectual disability, severe	6472	SHMT2	OMIM:619121
HP:0010864	Intellectual disability, severe	197	AHSG	OMIM:203650
HP:0010864	Intellectual disability, severe	8450	CUL4B	ORPHA:85293
HP:0010864	Intellectual disability, severe	55717	WDR11	OMIM:620237
HP:0010864	Intellectual disability, severe	10681	GNB5	ORPHA:542306
HP:0010864	Intellectual disability, severe	93587	TRMT10A	ORPHA:391408
HP:0010864	Intellectual disability, severe	84919	PPP1R15B	ORPHA:391408
HP:0010864	Intellectual disability, severe	84919	PPP1R15B	OMIM:616817
HP:0010864	Intellectual disability, severe	5264	PHYH	ORPHA:773
HP:0010864	Intellectual disability, severe	5191	PEX7	ORPHA:773
HP:0010864	Intellectual disability, severe	84295	PHF6	OMIM:301900
HP:0010864	Intellectual disability, severe	4081	MAB21L1	ORPHA:495875
HP:0010864	Intellectual disability, severe	5528	PPP2R5D	ORPHA:457279
HP:0010864	Intellectual disability, severe	8242	KDM5C	ORPHA:85279
HP:0010864	Intellectual disability, severe	8242	KDM5C	OMIM:300534
HP:0010864	Intellectual disability, severe	1315	COPB1	OMIM:619255
HP:0010864	Intellectual disability, severe	51360	MBTPS2	ORPHA:85284
HP:0010864	Intellectual disability, severe	4668	NAGA	OMIM:609241
HP:0010864	Intellectual disability, severe	4668	NAGA	ORPHA:79279
HP:0010864	Intellectual disability, severe	8481	OFD1	OMIM:300804
HP:0010864	Intellectual disability, severe	8481	OFD1	OMIM:300209
HP:0010864	Intellectual disability, severe	54187	NANS	OMIM:610442
HP:0010864	Intellectual disability, severe	1968	EIF2S3	ORPHA:85282
HP:0010864	Intellectual disability, severe	10295	BCKDK	OMIM:614923
HP:0010864	Intellectual disability, severe	81615	TMEM163	OMIM:620243
HP:0010864	Intellectual disability, severe	4508	MT-ATP6	ORPHA:644
HP:0010864	Intellectual disability, severe	10079	ATP9A	OMIM:620242
HP:0010864	Intellectual disability, severe	23040	MYT1L	ORPHA:647799
HP:0010864	Intellectual disability, severe	3897	L1CAM	ORPHA:2182
HP:0010864	Intellectual disability, severe	1496	CTNNA2	OMIM:618174
HP:0010864	Intellectual disability, severe	6326	SCN2A	OMIM:613721
HP:0010864	Intellectual disability, severe	3708	ITPR1	OMIM:206700
HP:0010864	Intellectual disability, severe	23443	SLC35A3	ORPHA:370943
HP:0010864	Intellectual disability, severe	199857	ALG14	OMIM:619031
HP:0010864	Intellectual disability, severe	27183	VPS4A	OMIM:619273
HP:0010864	Intellectual disability, severe	10134	BCAP31	OMIM:300475
HP:0010864	Intellectual disability, severe	7355	SLC35A2	ORPHA:356961
HP:0010864	Intellectual disability, severe	7109	TRAPPC10	OMIM:620027
HP:0010864	Intellectual disability, severe	7109	TRAPPC10	ORPHA:2512
HP:0010864	Intellectual disability, severe	55624	POMGNT1	OMIM:253280
HP:0010864	Intellectual disability, severe	10274	STAG1	ORPHA:502434
HP:0010864	Intellectual disability, severe	51343	FZR1	OMIM:620145
HP:0010864	Intellectual disability, severe	9839	ZEB2	OMIM:235730
HP:0010864	Intellectual disability, severe	4758	NEU1	ORPHA:93399
HP:0010864	Intellectual disability, severe	23126	POGZ	ORPHA:468678
HP:0010864	Intellectual disability, severe	64324	NSD1	ORPHA:821
HP:0010864	Intellectual disability, severe	9690	UBE3C	OMIM:620270
HP:0010864	Intellectual disability, severe	4784	NFIX	ORPHA:447980
HP:0010864	Intellectual disability, severe	4784	NFIX	ORPHA:420179
HP:0010864	Intellectual disability, severe	10479	SLC9A6	OMIM:300243
HP:0010864	Intellectual disability, severe	8443	GNPAT	OMIM:222765
HP:0010864	Intellectual disability, severe	170302	ARX	OMIM:300004
HP:0010864	Intellectual disability, severe	170302	ARX	OMIM:300419
HP:0010864	Intellectual disability, severe	170302	ARX	ORPHA:2508
HP:0010864	Intellectual disability, severe	89910	UBE3B	OMIM:244450
HP:0010864	Intellectual disability, severe	4010	LMX1B	ORPHA:495818
HP:0010864	Intellectual disability, severe	6812	STXBP1	ORPHA:495818
HP:0010864	Intellectual disability, severe	6812	STXBP1	OMIM:612164
HP:0010864	Intellectual disability, severe	80055	PGAP1	OMIM:615802
HP:0010864	Intellectual disability, severe	56623	INPP5E	ORPHA:75858
HP:0010864	Intellectual disability, severe	5689	PSMB1	OMIM:620038
HP:0010864	Intellectual disability, severe	23431	AP4E1	OMIM:613744
HP:0010864	Intellectual disability, severe	23431	AP4E1	ORPHA:280763
HP:0010864	Intellectual disability, severe	25782	RAB3GAP2	OMIM:212720
HP:0010864	Intellectual disability, severe	25782	RAB3GAP2	OMIM:614225
HP:0010864	Intellectual disability, severe	25782	RAB3GAP2	ORPHA:2510
HP:0010864	Intellectual disability, severe	5290	PIK3CA	ORPHA:99802
HP:0010864	Intellectual disability, severe	2475	MTOR	ORPHA:99802
HP:0010864	Intellectual disability, severe	10000	AKT3	ORPHA:99802
HP:0010864	Intellectual disability, severe	275	AMT	OMIM:620398
HP:0010864	Intellectual disability, severe	7175	TPR	OMIM:620393
HP:0010864	Intellectual disability, severe	84992	PIGY	ORPHA:247262
HP:0010864	Intellectual disability, severe	84720	PIGO	ORPHA:247262
HP:0010864	Intellectual disability, severe	93210	PGAP3	ORPHA:247262
HP:0010864	Intellectual disability, severe	284098	PIGW	ORPHA:247262
HP:0010864	Intellectual disability, severe	27315	PGAP2	ORPHA:247262
HP:0010864	Intellectual disability, severe	27315	PGAP2	OMIM:614207
HP:0010864	Intellectual disability, severe	9487	PIGL	ORPHA:247262
HP:0010864	Intellectual disability, severe	1509	CTSD	OMIM:610127
HP:0010864	Intellectual disability, severe	894	CCND2	OMIM:615938
HP:0010864	Intellectual disability, severe	10716	TBR1	OMIM:606053
HP:0010864	Intellectual disability, severe	8802	SUCLG1	OMIM:245400
HP:0010864	Intellectual disability, severe	815	CAMK2A	OMIM:618095
HP:0010864	Intellectual disability, severe	776	CACNA1D	ORPHA:369929
HP:0010864	Intellectual disability, severe	51199	NIN	OMIM:614851
HP:0010864	Intellectual disability, severe	51199	NIN	ORPHA:319675
HP:0010864	Intellectual disability, severe	79813	EHMT1	OMIM:610253
HP:0010864	Intellectual disability, severe	11284	PNKP	OMIM:613402
HP:0010864	Intellectual disability, severe	25942	SIN3A	OMIM:613406
HP:0010864	Intellectual disability, severe	26005	C2CD3	OMIM:615948
HP:0010864	Intellectual disability, severe	53834	FGFRL1	OMIM:194190
HP:0010864	Intellectual disability, severe	54496	PRMT7	ORPHA:464288
HP:0010864	Intellectual disability, severe	383	ARG1	ORPHA:90
HP:0010864	Intellectual disability, severe	3192	HNRNPU	ORPHA:238769
HP:0010864	Intellectual disability, severe	1798	DPAGT1	ORPHA:86309
HP:0010864	Intellectual disability, severe	10841	FTCD	ORPHA:51208
HP:0010864	Intellectual disability, severe	5063	PAK3	OMIM:300558
HP:0010864	Intellectual disability, severe	55343	SLC35C1	OMIM:266265
HP:0010864	Intellectual disability, severe	55343	SLC35C1	ORPHA:99843
HP:0010864	Intellectual disability, severe	5700	PSMC1	OMIM:620071
HP:0010864	Intellectual disability, severe	79228	THOC6	ORPHA:363444
HP:0010864	Intellectual disability, severe	6558	SLC12A2	OMIM:619080
HP:0010864	Intellectual disability, severe	9568	GABBR2	OMIM:617903
HP:0010864	Intellectual disability, severe	10472	ZBTB18	OMIM:612337
HP:0010864	Intellectual disability, severe	54862	CC2D1A	OMIM:608443
HP:0010864	Intellectual disability, severe	3187	HNRNPH1	OMIM:620083
HP:0010864	Intellectual disability, severe	9342	SNAP29	OMIM:609528
HP:0010864	Intellectual disability, severe	55084	SOBP	OMIM:613671
HP:0010864	Intellectual disability, severe	546	ATRX	OMIM:309580
HP:0010864	Intellectual disability, severe	9928	KIF14	OMIM:617914
HP:0010864	Intellectual disability, severe	9928	KIF14	ORPHA:2512
HP:0010864	Intellectual disability, severe	5048	PAFAH1B1	ORPHA:95232
HP:0010864	Intellectual disability, severe	7319	UBE2A	ORPHA:163956
HP:0010864	Intellectual disability, severe	5830	PEX5	OMIM:616716
HP:0010864	Intellectual disability, severe	80816	ASXL3	ORPHA:352577
HP:0010864	Intellectual disability, severe	6323	SCN1A	OMIM:607208
HP:0010864	Intellectual disability, severe	51621	KLF13	OMIM:612001
HP:0010864	Intellectual disability, severe	1139	CHRNA7	OMIM:612001
HP:0010864	Intellectual disability, severe	471	ATIC	ORPHA:250977
HP:0010864	Intellectual disability, severe	124997	WDR81	OMIM:610185
HP:0010864	Intellectual disability, severe	65062	TMEM237	OMIM:614424
HP:0010864	Intellectual disability, severe	8050	PDHX	ORPHA:255182
HP:0010864	Intellectual disability, severe	9662	CEP135	OMIM:614673
HP:0010864	Intellectual disability, severe	9662	CEP135	ORPHA:2512
HP:0010864	Intellectual disability, severe	6334	SCN8A	OMIM:614558
HP:0010864	Intellectual disability, severe	91869	RFT1	OMIM:612015
HP:0010864	Intellectual disability, severe	50	ACO2	OMIM:614559
HP:0010864	Intellectual disability, severe	3176	HNMT	OMIM:616739
HP:0010864	Intellectual disability, severe	5053	PAH	ORPHA:79254
HP:0010864	Intellectual disability, severe	54820	NDE1	OMIM:605013
HP:0010864	Intellectual disability, severe	7849	PAX8	ORPHA:95720
HP:0010864	Intellectual disability, severe	7849	PAX8	ORPHA:95713
HP:0010864	Intellectual disability, severe	7849	PAX8	ORPHA:95712
HP:0010864	Intellectual disability, severe	7253	TSHR	ORPHA:95720
HP:0010864	Intellectual disability, severe	7253	TSHR	ORPHA:95713
HP:0010864	Intellectual disability, severe	5172	SLC26A4	ORPHA:95720
HP:0010864	Intellectual disability, severe	5172	SLC26A4	ORPHA:95713
HP:0010864	Intellectual disability, severe	23732	FRRS1L	OMIM:616981
HP:0010864	Intellectual disability, severe	63035	BCORL1	OMIM:301029
HP:0010864	Intellectual disability, severe	8831	SYNGAP1	ORPHA:544254
HP:0010864	Intellectual disability, severe	6597	SMARCA4	ORPHA:1465
HP:0010864	Intellectual disability, severe	6598	SMARCB1	ORPHA:1465
HP:0010864	Intellectual disability, severe	6659	SOX4	ORPHA:1465
HP:0010864	Intellectual disability, severe	8289	ARID1A	ORPHA:1465
HP:0010864	Intellectual disability, severe	5977	DPF2	ORPHA:1465
HP:0010864	Intellectual disability, severe	6601	SMARCC2	ORPHA:1465
HP:0010864	Intellectual disability, severe	6602	SMARCD1	ORPHA:1465
HP:0010864	Intellectual disability, severe	57492	ARID1B	ORPHA:1465
HP:0010864	Intellectual disability, severe	196528	ARID2	ORPHA:1465
HP:0010864	Intellectual disability, severe	6605	SMARCE1	ORPHA:1465
HP:0010864	Intellectual disability, severe	6664	SOX11	ORPHA:1465
HP:0010864	Intellectual disability, severe	6709	SPTAN1	OMIM:613477
HP:0010864	Intellectual disability, severe	7080	NKX2-1	ORPHA:95713
HP:0010864	Intellectual disability, severe	2304	FOXE1	ORPHA:95713
HP:0010864	Intellectual disability, severe	4915	NTRK2	OMIM:617830
HP:0010864	Intellectual disability, severe	4358	MPV17	OMIM:256810
HP:0010864	Intellectual disability, severe	9378	NRXN1	OMIM:614325
HP:0010864	Intellectual disability, severe	1737	DLAT	ORPHA:79244
HP:0010864	Intellectual disability, severe	64093	SMOC1	ORPHA:1106
HP:0010864	Intellectual disability, severe	51185	CRBN	OMIM:607417
HP:0010864	Intellectual disability, severe	83696	TRAPPC9	ORPHA:352530
HP:0010864	Intellectual disability, severe	128637	TBC1D20	OMIM:615663
HP:0010864	Intellectual disability, severe	128637	TBC1D20	ORPHA:2510
HP:0010864	Intellectual disability, severe	55969	RAB5IF	OMIM:616994
HP:0010864	Intellectual disability, severe	760	CA2	ORPHA:2785
HP:0010864	Intellectual disability, severe	23476	BRD4	ORPHA:199
HP:0010864	Intellectual disability, severe	9126	SMC3	ORPHA:199
HP:0010864	Intellectual disability, severe	8243	SMC1A	ORPHA:199
HP:0010864	Intellectual disability, severe	6878	TAF6	ORPHA:199
HP:0010864	Intellectual disability, severe	25836	NIPBL	ORPHA:199
HP:0010864	Intellectual disability, severe	55869	HDAC8	ORPHA:199
HP:0010864	Intellectual disability, severe	5885	RAD21	ORPHA:199
HP:0010864	Intellectual disability, severe	81562	LMAN2L	OMIM:616887
HP:0010864	Intellectual disability, severe	3747	KCNC2	OMIM:619913
HP:0010864	Intellectual disability, severe	163786	SASS6	OMIM:616402
HP:0010864	Intellectual disability, severe	163786	SASS6	ORPHA:2512
HP:0010864	Intellectual disability, severe	1859	DYRK1A	OMIM:614104
HP:0010864	Intellectual disability, severe	1861	TOR1A	OMIM:618947
HP:0010864	Intellectual disability, severe	64857	PLEKHG2	OMIM:616763
HP:0010864	Intellectual disability, severe	9894	TELO2	ORPHA:488642
HP:0010864	Intellectual disability, severe	259232	NALCN	ORPHA:371364
HP:0010864	Intellectual disability, severe	285175	UNC80	ORPHA:371364
HP:0010864	Intellectual disability, severe	25914	RTTN	ORPHA:468631
HP:0010864	Intellectual disability, severe	8936	WASF1	OMIM:618707
HP:0010864	Intellectual disability, severe	26047	CNTNAP2	ORPHA:163681
HP:0010864	Intellectual disability, severe	7343	UBTF	ORPHA:500180
HP:0010864	Intellectual disability, severe	26576	SRPK3	OMIM:301134
HP:0010864	Intellectual disability, severe	23630	KCNE5	ORPHA:86818
HP:0010864	Intellectual disability, severe	2182	ACSL4	ORPHA:86818
HP:0010864	Intellectual disability, severe	9949	AMMECR1	ORPHA:86818
HP:0010864	Intellectual disability, severe	122553	TRAPPC6B	OMIM:617862
HP:0010864	Intellectual disability, severe	55691	FRMD4A	ORPHA:466688
HP:0010864	Intellectual disability, severe	7991	TUSC3	OMIM:611093
HP:0010864	Intellectual disability, severe	2806	GOT2	OMIM:618721
HP:0010864	Intellectual disability, severe	2890	GRIA1	OMIM:619931
HP:0010864	Intellectual disability, severe	9757	KMT2B	OMIM:619934
HP:0010864	Intellectual disability, severe	57731	SPTBN4	OMIM:617519
HP:0010864	Intellectual disability, severe	22931	RAB18	ORPHA:2510
HP:0010864	Intellectual disability, severe	9276	COPB2	ORPHA:2512
HP:0010864	Intellectual disability, severe	11113	CIT	ORPHA:2512
HP:0010864	Intellectual disability, severe	22995	CEP152	ORPHA:2512
HP:0010864	Intellectual disability, severe	55262	TRAPPC14	ORPHA:2512
HP:0010864	Intellectual disability, severe	29920	PYCR2	ORPHA:2512
HP:0010864	Intellectual disability, severe	4176	MCM7	ORPHA:2512
HP:0010864	Intellectual disability, severe	80254	CEP63	ORPHA:2512
HP:0010864	Intellectual disability, severe	79023	NUP37	ORPHA:2512
HP:0010864	Intellectual disability, severe	23310	NCAPD3	ORPHA:2512
HP:0010864	Intellectual disability, severe	6301	SARS1	ORPHA:2512
HP:0010864	Intellectual disability, severe	55755	CDK5RAP2	ORPHA:2512
HP:0010864	Intellectual disability, severe	79648	MCPH1	ORPHA:2512
HP:0010864	Intellectual disability, severe	23141	ANKLE2	ORPHA:2512
HP:0010864	Intellectual disability, severe	259266	ASPM	ORPHA:2512
HP:0010864	Intellectual disability, severe	7453	WARS1	ORPHA:2512
HP:0010864	Intellectual disability, severe	1911	PHC1	ORPHA:2512
HP:0010864	Intellectual disability, severe	1062	CENPE	ORPHA:2512
HP:0010864	Intellectual disability, severe	6884	TAF13	ORPHA:2512
HP:0010864	Intellectual disability, severe	57082	KNL1	ORPHA:2512
HP:0010864	Intellectual disability, severe	1021	CDK6	ORPHA:2512
HP:0010864	Intellectual disability, severe	51075	TMX2	OMIM:618730
HP:0010864	Intellectual disability, severe	55331	ACER3	OMIM:617762
HP:0010864	Intellectual disability, severe	7543	ZFX	OMIM:301118
HP:0010864	Intellectual disability, severe	2036	EPB41L1	OMIM:614257
HP:0010864	Intellectual disability, severe	9373	PLAA	OMIM:617527
HP:0010864	Intellectual disability, severe	7252	TSHB	OMIM:275100
HP:0002174	Postural tremor	353116	RILPL1	OMIM:619790
HP:0002174	Postural tremor	2643	GCH1	OMIM:128230
HP:0002174	Postural tremor	2643	GCH1	ORPHA:98808
HP:0002174	Postural tremor	80207	OPA3	ORPHA:67036
HP:0002174	Postural tremor	2521	FUS	OMIM:614782
HP:0002174	Postural tremor	123606	NIPA1	ORPHA:100988
HP:0002174	Postural tremor	4929	NR4A2	ORPHA:98808
HP:0002174	Postural tremor	4929	NR4A2	OMIM:619911
HP:0002174	Postural tremor	3615	IMPDH2	ORPHA:98808
HP:0002174	Postural tremor	23533	PIK3R5	ORPHA:64753
HP:0002174	Postural tremor	23064	SETX	ORPHA:64753
HP:0002174	Postural tremor	391356	PTRHD1	OMIM:620747
HP:0002174	Postural tremor	100996717	NOTCH2NLC	OMIM:618866
HP:0002174	Postural tremor	51117	COQ4	OMIM:620666
HP:0002174	Postural tremor	27235	COQ2	ORPHA:227510
HP:0002174	Postural tremor	27235	COQ2	ORPHA:98933
HP:0002174	Postural tremor	9256	TSPOAP1	ORPHA:101150
HP:0002174	Postural tremor	7054	TH	ORPHA:101150
HP:0002174	Postural tremor	84277	DNAJC30	ORPHA:104
HP:0002174	Postural tremor	4535	MT-ND1	ORPHA:104
HP:0002174	Postural tremor	4535	MT-ND1	OMIM:535000
HP:0002174	Postural tremor	4536	MT-ND2	ORPHA:104
HP:0002174	Postural tremor	4536	MT-ND2	OMIM:535000
HP:0002174	Postural tremor	4538	MT-ND4	ORPHA:104
HP:0002174	Postural tremor	4538	MT-ND4	OMIM:535000
HP:0002174	Postural tremor	4720	NDUFS2	ORPHA:104
HP:0002174	Postural tremor	4512	MT-CO1	ORPHA:104
HP:0002174	Postural tremor	4514	MT-CO3	ORPHA:104
HP:0002174	Postural tremor	4514	MT-CO3	OMIM:535000
HP:0002174	Postural tremor	4519	MT-CYB	ORPHA:104
HP:0002174	Postural tremor	4519	MT-CYB	OMIM:535000
HP:0002174	Postural tremor	4508	MT-ATP6	ORPHA:104
HP:0002174	Postural tremor	4508	MT-ATP6	OMIM:535000
HP:0002174	Postural tremor	4540	MT-ND5	ORPHA:104
HP:0002174	Postural tremor	4540	MT-ND5	OMIM:535000
HP:0002174	Postural tremor	4541	MT-ND6	ORPHA:104
HP:0002174	Postural tremor	4541	MT-ND6	OMIM:535000
HP:0002174	Postural tremor	4539	MT-ND4L	ORPHA:104
HP:0002174	Postural tremor	4539	MT-ND4L	OMIM:535000
HP:0002174	Postural tremor	11128	POLR3A	ORPHA:447896
HP:0002174	Postural tremor	11128	POLR3A	OMIM:607694
HP:0002174	Postural tremor	5521	PPP2R2B	ORPHA:98762
HP:0002174	Postural tremor	6311	ATXN2	OMIM:183090
HP:0002174	Postural tremor	6311	ATXN2	ORPHA:98756
HP:0002174	Postural tremor	5155	PDGFB	OMIM:615483
HP:0002174	Postural tremor	1293	COL6A3	OMIM:616411
HP:0002174	Postural tremor	26011	TENM4	OMIM:616736
HP:0002174	Postural tremor	2259	FGF14	OMIM:193003
HP:0002174	Postural tremor	2259	FGF14	OMIM:620174
HP:0002174	Postural tremor	3708	ITPR1	OMIM:117360
HP:0002174	Postural tremor	3708	ITPR1	OMIM:606658
HP:0002174	Postural tremor	3708	ITPR1	OMIM:206700
HP:0002174	Postural tremor	4884	NPTX1	OMIM:620158
HP:0002174	Postural tremor	23400	ATP13A2	ORPHA:314632
HP:0002174	Postural tremor	6310	ATXN1	ORPHA:98755
HP:0002174	Postural tremor	2592	GALT	ORPHA:79239
HP:0002174	Postural tremor	1200	TPP1	ORPHA:284324
HP:0002174	Postural tremor	1200	TPP1	OMIM:609270
HP:0002174	Postural tremor	5071	PRKN	OMIM:600116
HP:0002174	Postural tremor	8575	PRKRA	ORPHA:210571
HP:0002174	Postural tremor	8575	PRKRA	OMIM:612067
HP:0002174	Postural tremor	2898	GRIK2	OMIM:611092
HP:0002174	Postural tremor	7345	UCHL1	OMIM:615491
HP:0002174	Postural tremor	10273	STUB1	ORPHA:412057
HP:0002174	Postural tremor	4604	MYBPC1	OMIM:618524
HP:0002174	Postural tremor	80208	SPG11	OMIM:616668
HP:0002174	Postural tremor	3752	KCND3	OMIM:607346
HP:0002174	Postural tremor	5832	ALDH18A1	ORPHA:447757
HP:0002174	Postural tremor	5832	ALDH18A1	ORPHA:447760
HP:0002174	Postural tremor	26580	BSCL2	OMIM:270685
HP:0002174	Postural tremor	26580	BSCL2	ORPHA:100998
HP:0002174	Postural tremor	9217	VAPB	OMIM:608627
HP:0002174	Postural tremor	10397	NDRG1	ORPHA:99950
HP:0002174	Postural tremor	9420	CYP7B1	OMIM:270800
HP:0002174	Postural tremor	11315	PARK7	OMIM:606324
HP:0002174	Postural tremor	2332	FMR1	OMIM:300623
HP:0002174	Postural tremor	51308	REEP2	ORPHA:401849
HP:0002174	Postural tremor	10935	PRDX3	OMIM:619862
HP:0002174	Postural tremor	1814	DRD3	OMIM:190300
HP:0002174	Postural tremor	5277	PIGA	OMIM:300868
HP:0002174	Postural tremor	5277	PIGA	OMIM:301072
HP:0002174	Postural tremor	950	SCARB2	OMIM:254900
HP:0002174	Postural tremor	339453	TMEM240	OMIM:607454
HP:0002174	Postural tremor	9927	MFN2	ORPHA:99947
HP:0002174	Postural tremor	5376	PMP22	ORPHA:3115
HP:0002174	Postural tremor	4359	MPZ	ORPHA:3115
HP:0002174	Postural tremor	55703	POLR3B	OMIM:607694
HP:0002174	Postural tremor	10382	TUBB4A	ORPHA:98805
HP:0002174	Postural tremor	8398	PLA2G6	OMIM:612953
HP:0002174	Postural tremor	8913	CACNA1G	ORPHA:458803
HP:0002174	Postural tremor	79587	CARS2	ORPHA:477774
HP:0002174	Postural tremor	4001	LMNB1	ORPHA:99027
HP:0002174	Postural tremor	63982	ANO3	ORPHA:420485
HP:0007199	Progressive spastic paraparesis	126129	CPT1C	ORPHA:444099
HP:0007199	Progressive spastic paraparesis	85465	SELENOI	ORPHA:506353
HP:0007199	Progressive spastic paraparesis	6687	SPG7	ORPHA:35689
HP:0007199	Progressive spastic paraparesis	2581	GALC	ORPHA:206448
HP:0007199	Progressive spastic paraparesis	79152	FA2H	ORPHA:329308
HP:0007199	Progressive spastic paraparesis	215	ABCD1	ORPHA:139399
HP:0007199	Progressive spastic paraparesis	6905	TBCE	ORPHA:496756
HP:0030075	Ductal carcinoma in situ	10483	SEC23B	OMIM:616858
HP:0030075	Ductal carcinoma in situ	8930	MBD4	OMIM:619975
HP:0030075	Ductal carcinoma in situ	5573	PRKAR1A	ORPHA:1359
HP:0030075	Ductal carcinoma in situ	50940	PDE11A	ORPHA:1359
HP:0030074	Chemodectoma	54949	SDHAF2	OMIM:601650
HP:0030074	Chemodectoma	6392	SDHD	OMIM:168000
HP:0030074	Chemodectoma	6390	SDHB	OMIM:115310
HP:0030074	Chemodectoma	6391	SDHC	OMIM:605373
HP:0100638	Neoplasm of the pharynx	5573	PRKAR1A	ORPHA:1359
HP:0100638	Neoplasm of the pharynx	50940	PDE11A	ORPHA:1359
HP:0030072	Paranasal sinus neoplasm	5573	PRKAR1A	ORPHA:1359
HP:0030072	Paranasal sinus neoplasm	50940	PDE11A	ORPHA:1359
HP:0030071	Medulloepithelioma	9817	KEAP1	ORPHA:276399
HP:0030071	Medulloepithelioma	23405	DICER1	ORPHA:276399
HP:0030070	Central primitive neuroectodermal tumor	7157	TP53	ORPHA:524
HP:0030070	Central primitive neuroectodermal tumor	1029	CDKN2A	ORPHA:524
HP:0030070	Central primitive neuroectodermal tumor	4193	MDM2	ORPHA:524
HP:0030070	Central primitive neuroectodermal tumor	11200	CHEK2	ORPHA:524
HP:0030070	Central primitive neuroectodermal tumor	9817	KEAP1	ORPHA:276399
HP:0030070	Central primitive neuroectodermal tumor	23405	DICER1	ORPHA:276399
HP:0030079	Cervix cancer	6736	SRY	ORPHA:1772
HP:0030079	Cervix cancer	6794	STK11	ORPHA:2869
HP:0030079	Cervix cancer	7852	CXCR4	ORPHA:51636
HP:0030079	Cervix cancer	2261	FGFR3	OMIM:603956
HP:0030079	Cervix cancer	8379	MAD1L1	OMIM:620189
HP:0030079	Cervix cancer	1027	CDKN1B	ORPHA:276152
HP:0030078	Lung adenocarcinoma	7157	TP53	OMIM:151623
HP:0030078	Lung adenocarcinoma	7157	TP53	ORPHA:1501
HP:0030078	Lung adenocarcinoma	137682	NDUFAF6	OMIM:618913
HP:0030078	Lung adenocarcinoma	8314	BAP1	OMIM:614327
HP:0030078	Lung adenocarcinoma	5002	SLC22A18	OMIM:211980
HP:0030078	Lung adenocarcinoma	1956	EGFR	OMIM:211980
HP:0030078	Lung adenocarcinoma	5519	PPP2R1B	OMIM:211980
HP:0030078	Lung adenocarcinoma	2074	ERCC6	OMIM:211980
HP:0030078	Lung adenocarcinoma	1326	MAP3K8	OMIM:211980
HP:0030078	Lung adenocarcinoma	3845	KRAS	OMIM:211980
HP:0030078	Lung adenocarcinoma	5071	PRKN	OMIM:211980
HP:0030078	Lung adenocarcinoma	1548	CYP2A6	OMIM:211980
HP:0030078	Lung adenocarcinoma	2064	ERBB2	OMIM:211980
HP:0030078	Lung adenocarcinoma	673	BRAF	OMIM:211980
HP:0030078	Lung adenocarcinoma	3659	IRF1	OMIM:211980
HP:0030078	Lung adenocarcinoma	841	CASP8	OMIM:211980
HP:0030078	Lung adenocarcinoma	356	FASLG	OMIM:211980
HP:0030078	Lung adenocarcinoma	5290	PIK3CA	OMIM:211980
HP:0030078	Lung adenocarcinoma	84133	ZNRF3	ORPHA:1501
HP:0030078	Lung adenocarcinoma	5573	PRKAR1A	ORPHA:1501
HP:0030078	Lung adenocarcinoma	1499	CTNNB1	ORPHA:1501
HP:0030078	Lung adenocarcinoma	1029	CDKN2A	ORPHA:1501
HP:0030078	Lung adenocarcinoma	7015	TERT	ORPHA:1501
HP:0030012	Abnormal female reproductive system physiology	3690	ITGB3	OMIM:619271
HP:0030012	Abnormal female reproductive system physiology	3690	ITGB3	ORPHA:849
HP:0030012	Abnormal female reproductive system physiology	3690	ITGB3	OMIM:619267
HP:0030012	Abnormal female reproductive system physiology	3674	ITGA2B	OMIM:273800
HP:0030012	Abnormal female reproductive system physiology	3674	ITGA2B	ORPHA:849
HP:0030012	Abnormal female reproductive system physiology	2157	F8	ORPHA:177926
HP:0030012	Abnormal female reproductive system physiology	2157	F8	ORPHA:169802
HP:0030012	Abnormal female reproductive system physiology	2811	GP1BA	OMIM:153670
HP:0030012	Abnormal female reproductive system physiology	2811	GP1BA	ORPHA:274
HP:0030012	Abnormal female reproductive system physiology	2811	GP1BA	OMIM:231200
HP:0030012	Abnormal female reproductive system physiology	2812	GP1BB	ORPHA:274
HP:0030012	Abnormal female reproductive system physiology	2812	GP1BB	OMIM:231200
HP:0030012	Abnormal female reproductive system physiology	2815	GP9	ORPHA:274
HP:0030012	Abnormal female reproductive system physiology	2815	GP9	OMIM:231200
HP:0030012	Abnormal female reproductive system physiology	7450	VWF	OMIM:193400
HP:0030012	Abnormal female reproductive system physiology	7450	VWF	OMIM:613554
HP:0030012	Abnormal female reproductive system physiology	7450	VWF	OMIM:277480
HP:0030012	Abnormal female reproductive system physiology	2155	F7	OMIM:227500
HP:0030012	Abnormal female reproductive system physiology	2155	F7	ORPHA:327
HP:0030012	Abnormal female reproductive system physiology	5618	PRLR	OMIM:615555
HP:0030012	Abnormal female reproductive system physiology	5618	PRLR	ORPHA:397685
HP:0030012	Abnormal female reproductive system physiology	5054	SERPINE1	ORPHA:465
HP:0030012	Abnormal female reproductive system physiology	5054	SERPINE1	OMIM:613329
HP:0030012	Abnormal female reproductive system physiology	89781	HPS4	OMIM:614073
HP:0030012	Abnormal female reproductive system physiology	11234	HPS5	OMIM:614074
HP:0030012	Abnormal female reproductive system physiology	388552	BLOC1S3	OMIM:614077
HP:0030012	Abnormal female reproductive system physiology	3998	LMAN1	ORPHA:35909
HP:0030012	Abnormal female reproductive system physiology	90411	MCFD2	ORPHA:35909
HP:0030012	Abnormal female reproductive system physiology	90411	MCFD2	OMIM:613625
HP:0030012	Abnormal female reproductive system physiology	84062	DTNBP1	OMIM:614076
HP:0030012	Abnormal female reproductive system physiology	5568	PRKACG	OMIM:616176
HP:0030012	Abnormal female reproductive system physiology	81575	APOLD1	OMIM:620715
HP:0030012	Abnormal female reproductive system physiology	10020	GNE	OMIM:620757
HP:0030012	Abnormal female reproductive system physiology	10235	RASGRP2	OMIM:615888
HP:0030012	Abnormal female reproductive system physiology	2542	SLC37A4	ORPHA:79259
HP:0030012	Abnormal female reproductive system physiology	2165	F13B	ORPHA:331
HP:0030012	Abnormal female reproductive system physiology	2162	F13A1	ORPHA:331
HP:0030012	Abnormal female reproductive system physiology	63915	BLOC1S5	OMIM:619172
HP:0030012	Abnormal female reproductive system physiology	2533	FYB1	OMIM:273900
HP:0030012	Abnormal female reproductive system physiology	2159	F10	OMIM:227600
HP:0030012	Abnormal female reproductive system physiology	2159	F10	ORPHA:328
HP:0030012	Abnormal female reproductive system physiology	2153	F5	OMIM:227400
HP:0030012	Abnormal female reproductive system physiology	2153	F5	ORPHA:326
HP:0030012	Abnormal female reproductive system physiology	51206	GP6	OMIM:614201
HP:0030012	Abnormal female reproductive system physiology	2147	F2	OMIM:613679
HP:0030012	Abnormal female reproductive system physiology	2147	F2	ORPHA:325
HP:0030012	Abnormal female reproductive system physiology	2160	F11	ORPHA:329
HP:0030012	Abnormal female reproductive system physiology	7171	TPM4	OMIM:620486
HP:0030012	Abnormal female reproductive system physiology	5795	PTPRJ	OMIM:620484
HP:0030012	Abnormal female reproductive system physiology	4627	MYH9	OMIM:155100
HP:0030012	Abnormal female reproductive system physiology	4627	MYH9	ORPHA:182050
HP:0030012	Abnormal female reproductive system physiology	2313	FLI1	OMIM:617443
HP:0030012	Abnormal female reproductive system physiology	5328	PLAU	OMIM:601709
HP:0030012	Abnormal female reproductive system physiology	342618	SLFN14	OMIM:616913
HP:0030012	Abnormal female reproductive system physiology	1729	DIAPH1	OMIM:124900
HP:0030012	Abnormal female reproductive system physiology	472	ATM	OMIM:208900
HP:0030012	Abnormal female reproductive system physiology	652	BMP4	OMIM:607932
HP:0030012	Abnormal female reproductive system physiology	326	AIRE	OMIM:240300
HP:0030012	Abnormal female reproductive system physiology	9319	TRIP13	OMIM:619011
HP:0030012	Abnormal female reproductive system physiology	64072	CDH23	ORPHA:91347
HP:0030012	Abnormal female reproductive system physiology	64072	CDH23	ORPHA:2965
HP:0030012	Abnormal female reproductive system physiology	4221	MEN1	ORPHA:2965
HP:0030012	Abnormal female reproductive system physiology	9049	AIP	ORPHA:2965
HP:0030012	Abnormal female reproductive system physiology	540	ATP7B	ORPHA:905
HP:0030012	Abnormal female reproductive system physiology	54766	BTG4	OMIM:619009
HP:0030012	Abnormal female reproductive system physiology	55109	AGGF1	ORPHA:90308
HP:0030012	Abnormal female reproductive system physiology	5290	PIK3CA	ORPHA:90308
HP:0030012	Abnormal female reproductive system physiology	7454	WAS	ORPHA:906
HP:0030012	Abnormal female reproductive system physiology	7456	WIPF1	ORPHA:906
HP:0030012	Abnormal female reproductive system physiology	6736	SRY	OMIM:400044
HP:0030012	Abnormal female reproductive system physiology	23218	NBEAL2	ORPHA:721
HP:0030012	Abnormal female reproductive system physiology	668	FOXL2	OMIM:110100
HP:0030012	Abnormal female reproductive system physiology	1027	CDKN1B	ORPHA:652
HP:0030012	Abnormal female reproductive system physiology	1026	CDKN1A	ORPHA:652
HP:0030012	Abnormal female reproductive system physiology	1030	CDKN2B	ORPHA:652
HP:0030012	Abnormal female reproductive system physiology	1031	CDKN2C	ORPHA:652
HP:0030012	Abnormal female reproductive system physiology	84196	USP48	ORPHA:96253
HP:0030012	Abnormal female reproductive system physiology	7157	TP53	ORPHA:96253
HP:0030012	Abnormal female reproductive system physiology	9101	USP8	ORPHA:96253
HP:0030012	Abnormal female reproductive system physiology	2908	NR3C1	ORPHA:96253
HP:0030012	Abnormal female reproductive system physiology	673	BRAF	ORPHA:96253
HP:0030012	Abnormal female reproductive system physiology	546	ATRX	ORPHA:96253
HP:0030012	Abnormal female reproductive system physiology	7476	WNT7A	OMIM:228930
HP:0030012	Abnormal female reproductive system physiology	654	BMP6	ORPHA:465508
HP:0030012	Abnormal female reproductive system physiology	3077	HFE	ORPHA:465508
HP:0030012	Abnormal female reproductive system physiology	3077	HFE	OMIM:235200
HP:0030012	Abnormal female reproductive system physiology	8314	BAP1	ORPHA:2495
HP:0030012	Abnormal female reproductive system physiology	4771	NF2	ORPHA:2495
HP:0030012	Abnormal female reproductive system physiology	6598	SMARCB1	ORPHA:2495
HP:0030012	Abnormal female reproductive system physiology	5155	PDGFB	ORPHA:2495
HP:0030012	Abnormal female reproductive system physiology	84231	TRAF7	ORPHA:2495
HP:0030012	Abnormal female reproductive system physiology	6608	SMO	ORPHA:2495
HP:0030012	Abnormal female reproductive system physiology	207	AKT1	ORPHA:2495
HP:0030012	Abnormal female reproductive system physiology	7015	TERT	ORPHA:2495
HP:0030012	Abnormal female reproductive system physiology	51684	SUFU	ORPHA:2495
HP:0030012	Abnormal female reproductive system physiology	6605	SMARCE1	ORPHA:2495
HP:0030012	Abnormal female reproductive system physiology	23438	HARS2	OMIM:614926
HP:0030012	Abnormal female reproductive system physiology	148738	HJV	OMIM:602390
HP:0030012	Abnormal female reproductive system physiology	5468	PPARG	ORPHA:528
HP:0030012	Abnormal female reproductive system physiology	10555	AGPAT2	ORPHA:528
HP:0030012	Abnormal female reproductive system physiology	284119	CAVIN1	ORPHA:528
HP:0030012	Abnormal female reproductive system physiology	26580	BSCL2	ORPHA:528
HP:0030012	Abnormal female reproductive system physiology	2353	FOS	ORPHA:528
HP:0030012	Abnormal female reproductive system physiology	857	CAV1	ORPHA:528
HP:0030012	Abnormal female reproductive system physiology	7036	TFR2	OMIM:604250
HP:0030012	Abnormal female reproductive system physiology	4342	MOS	OMIM:620383
HP:0030012	Abnormal female reproductive system physiology	3981	LIG4	OMIM:606593
HP:0030012	Abnormal female reproductive system physiology	5626	PROP1	ORPHA:95494
HP:0030012	Abnormal female reproductive system physiology	5626	PROP1	ORPHA:90695
HP:0030012	Abnormal female reproductive system physiology	2736	GLI2	ORPHA:95494
HP:0030012	Abnormal female reproductive system physiology	89884	LHX4	ORPHA:95494
HP:0030012	Abnormal female reproductive system physiology	3170	FOXA2	ORPHA:95494
HP:0030012	Abnormal female reproductive system physiology	5449	POU1F1	ORPHA:95494
HP:0030012	Abnormal female reproductive system physiology	8820	HESX1	ORPHA:95494
HP:0030012	Abnormal female reproductive system physiology	5015	OTX2	ORPHA:95494
HP:0030012	Abnormal female reproductive system physiology	4439	MSH5	OMIM:617442
HP:0030012	Abnormal female reproductive system physiology	402569	KPNA7	OMIM:620319
HP:0030012	Abnormal female reproductive system physiology	55315	SLC29A3	ORPHA:168569
HP:0030012	Abnormal female reproductive system physiology	164045	HFM1	OMIM:615724
HP:0030012	Abnormal female reproductive system physiology	11232	POLG2	OMIM:619425
HP:0030012	Abnormal female reproductive system physiology	84168	ANTXR1	ORPHA:2067
HP:0030012	Abnormal female reproductive system physiology	6658	SOX3	ORPHA:90695
HP:0030012	Abnormal female reproductive system physiology	650	BMP2	OMIM:235200
HP:0030012	Abnormal female reproductive system physiology	2100	ESR2	OMIM:618187
HP:0030012	Abnormal female reproductive system physiology	5447	POR	ORPHA:95699
HP:0030012	Abnormal female reproductive system physiology	5447	POR	OMIM:201750
HP:0030012	Abnormal female reproductive system physiology	2099	ESR1	ORPHA:785
HP:0030012	Abnormal female reproductive system physiology	2099	ESR1	OMIM:615363
HP:0030012	Abnormal female reproductive system physiology	9150	CTDP1	OMIM:604168
HP:0030012	Abnormal female reproductive system physiology	367	AR	ORPHA:90797
HP:0030012	Abnormal female reproductive system physiology	367	AR	OMIM:300068
HP:0030012	Abnormal female reproductive system physiology	367	AR	ORPHA:99429
HP:0030012	Abnormal female reproductive system physiology	6492	SIM1	ORPHA:398079
HP:0030012	Abnormal female reproductive system physiology	1363	CPE	OMIM:619326
HP:0030012	Abnormal female reproductive system physiology	3952	LEP	ORPHA:66628
HP:0030012	Abnormal female reproductive system physiology	3952	LEP	OMIM:614962
HP:0030012	Abnormal female reproductive system physiology	8890	EIF2B4	OMIM:620314
HP:0030012	Abnormal female reproductive system physiology	8626	TP63	OMIM:620311
HP:0030012	Abnormal female reproductive system physiology	8626	TP63	ORPHA:69085
HP:0030012	Abnormal female reproductive system physiology	6638	SNRPN	ORPHA:177904
HP:0030012	Abnormal female reproductive system physiology	6638	SNRPN	ORPHA:177901
HP:0030012	Abnormal female reproductive system physiology	6638	SNRPN	ORPHA:98754
HP:0030012	Abnormal female reproductive system physiology	4692	NDN	ORPHA:177904
HP:0030012	Abnormal female reproductive system physiology	4692	NDN	ORPHA:177901
HP:0030012	Abnormal female reproductive system physiology	4692	NDN	ORPHA:98754
HP:0030012	Abnormal female reproductive system physiology	4948	OCA2	ORPHA:177904
HP:0030012	Abnormal female reproductive system physiology	4948	OCA2	ORPHA:177901
HP:0030012	Abnormal female reproductive system physiology	4948	OCA2	ORPHA:98754
HP:0030012	Abnormal female reproductive system physiology	254394	MCM9	OMIM:616185
HP:0030012	Abnormal female reproductive system physiology	55154	MSTO1	OMIM:617675
HP:0030012	Abnormal female reproductive system physiology	55154	MSTO1	ORPHA:502423
HP:0030012	Abnormal female reproductive system physiology	80204	FBXO11	OMIM:618089
HP:0030012	Abnormal female reproductive system physiology	9692	PRORP	OMIM:619737
HP:0030012	Abnormal female reproductive system physiology	79140	CCDC28B	OMIM:209900
HP:0030012	Abnormal female reproductive system physiology	658	BMPR1B	OMIM:609441
HP:0030012	Abnormal female reproductive system physiology	7490	WT1	OMIM:136680
HP:0030012	Abnormal female reproductive system physiology	7490	WT1	ORPHA:251510
HP:0030012	Abnormal female reproductive system physiology	7490	WT1	ORPHA:347
HP:0030012	Abnormal female reproductive system physiology	54361	WNT4	OMIM:158330
HP:0030012	Abnormal female reproductive system physiology	54361	WNT4	ORPHA:247768
HP:0030012	Abnormal female reproductive system physiology	23347	SMCHD1	OMIM:603457
HP:0030012	Abnormal female reproductive system physiology	2661	GDF9	OMIM:618014
HP:0030012	Abnormal female reproductive system physiology	51199	NIN	OMIM:614851
HP:0030012	Abnormal female reproductive system physiology	51199	NIN	ORPHA:319675
HP:0030012	Abnormal female reproductive system physiology	9723	SEMA3E	OMIM:146110
HP:0030012	Abnormal female reproductive system physiology	10011	SRA1	OMIM:146110
HP:0030012	Abnormal female reproductive system physiology	558	AXL	OMIM:146110
HP:0030012	Abnormal female reproductive system physiology	3953	LEPR	ORPHA:179494
HP:0030012	Abnormal female reproductive system physiology	6662	SOX9	ORPHA:251510
HP:0030012	Abnormal female reproductive system physiology	6845	VAMP7	ORPHA:251510
HP:0030012	Abnormal female reproductive system physiology	51741	WWOX	ORPHA:251510
HP:0030012	Abnormal female reproductive system physiology	4214	MAP3K1	ORPHA:251510
HP:0030012	Abnormal female reproductive system physiology	57647	DHX37	ORPHA:251510
HP:0030012	Abnormal female reproductive system physiology	57647	DHX37	OMIM:273250
HP:0030012	Abnormal female reproductive system physiology	23414	ZFPM2	ORPHA:251510
HP:0030012	Abnormal female reproductive system physiology	190	NR0B1	ORPHA:251510
HP:0030012	Abnormal female reproductive system physiology	2626	GATA4	ORPHA:251510
HP:0030012	Abnormal female reproductive system physiology	50846	DHH	OMIM:233420
HP:0030012	Abnormal female reproductive system physiology	50846	DHH	OMIM:607080
HP:0030012	Abnormal female reproductive system physiology	50846	DHH	ORPHA:168563
HP:0030012	Abnormal female reproductive system physiology	1588	CYP19A1	ORPHA:91
HP:0030012	Abnormal female reproductive system physiology	1588	CYP19A1	OMIM:613546
HP:0030012	Abnormal female reproductive system physiology	23476	BRD4	ORPHA:199
HP:0030012	Abnormal female reproductive system physiology	9126	SMC3	ORPHA:199
HP:0030012	Abnormal female reproductive system physiology	8243	SMC1A	ORPHA:199
HP:0030012	Abnormal female reproductive system physiology	6878	TAF6	ORPHA:199
HP:0030012	Abnormal female reproductive system physiology	25836	NIPBL	ORPHA:199
HP:0030012	Abnormal female reproductive system physiology	55869	HDAC8	ORPHA:199
HP:0030012	Abnormal female reproductive system physiology	5885	RAD21	ORPHA:199
HP:0030012	Abnormal female reproductive system physiology	402381	SOHLH1	OMIM:617690
HP:0030012	Abnormal female reproductive system physiology	5189	PEX1	ORPHA:3220
HP:0030012	Abnormal female reproductive system physiology	5190	PEX6	ORPHA:3220
HP:0030012	Abnormal female reproductive system physiology	6091	ROBO1	ORPHA:95496
HP:0030012	Abnormal female reproductive system physiology	50937	CDON	ORPHA:95496
HP:0030012	Abnormal female reproductive system physiology	23432	GPR161	ORPHA:95496
HP:0030012	Abnormal female reproductive system physiology	10908	PNPLA6	OMIM:215470
HP:0030012	Abnormal female reproductive system physiology	2625	GATA3	OMIM:146255
HP:0030012	Abnormal female reproductive system physiology	3295	HSD17B4	OMIM:233400
HP:0030012	Abnormal female reproductive system physiology	5122	PCSK1	OMIM:600955
HP:0030012	Abnormal female reproductive system physiology	8565	YARS1	OMIM:619418
HP:0030012	Abnormal female reproductive system physiology	8192	CLPP	OMIM:614129
HP:0030012	Abnormal female reproductive system physiology	93426	SYCE1	OMIM:616947
HP:0030012	Abnormal female reproductive system physiology	8516	ITGA8	OMIM:191830
HP:0030012	Abnormal female reproductive system physiology	93587	TRMT10A	OMIM:616033
HP:0030012	Abnormal female reproductive system physiology	50964	SOST	OMIM:269500
HP:0030012	Abnormal female reproductive system physiology	5573	PRKAR1A	ORPHA:950
HP:0030012	Abnormal female reproductive system physiology	5573	PRKAR1A	OMIM:101800
HP:0030012	Abnormal female reproductive system physiology	5144	PDE4D	ORPHA:950
HP:0030012	Abnormal female reproductive system physiology	7840	ALMS1	ORPHA:64
HP:0030012	Abnormal female reproductive system physiology	7840	ALMS1	OMIM:203800
HP:0030012	Abnormal female reproductive system physiology	92482	BBIP1	ORPHA:110
HP:0030012	Abnormal female reproductive system physiology	80184	CEP290	ORPHA:110
HP:0030012	Abnormal female reproductive system physiology	11020	IFT27	ORPHA:110
HP:0030012	Abnormal female reproductive system physiology	582	BBS1	ORPHA:110
HP:0030012	Abnormal female reproductive system physiology	49855	SCAPER	ORPHA:110
HP:0030012	Abnormal female reproductive system physiology	4867	NPHP1	ORPHA:110
HP:0030012	Abnormal female reproductive system physiology	51057	WDPCP	ORPHA:110
HP:0030012	Abnormal female reproductive system physiology	132320	SCLT1	ORPHA:110
HP:0030012	Abnormal female reproductive system physiology	27241	BBS9	ORPHA:110
HP:0030012	Abnormal female reproductive system physiology	27241	BBS9	OMIM:615986
HP:0030012	Abnormal female reproductive system physiology	84984	CEP19	ORPHA:110
HP:0030012	Abnormal female reproductive system physiology	22954	TRIM32	ORPHA:110
HP:0030012	Abnormal female reproductive system physiology	54903	MKS1	ORPHA:110
HP:0030012	Abnormal female reproductive system physiology	79738	BBS10	ORPHA:110
HP:0030012	Abnormal female reproductive system physiology	123016	TTC8	ORPHA:110
HP:0030012	Abnormal female reproductive system physiology	26160	IFT172	ORPHA:110
HP:0030012	Abnormal female reproductive system physiology	583	BBS2	ORPHA:110
HP:0030012	Abnormal female reproductive system physiology	585	BBS4	ORPHA:110
HP:0030012	Abnormal female reproductive system physiology	8195	MKKS	ORPHA:110
HP:0030012	Abnormal female reproductive system physiology	54585	LZTFL1	ORPHA:110
HP:0030012	Abnormal female reproductive system physiology	55212	BBS7	ORPHA:110
HP:0030012	Abnormal female reproductive system physiology	166379	BBS12	ORPHA:110
HP:0030012	Abnormal female reproductive system physiology	10806	SDCCAG8	ORPHA:110
HP:0030012	Abnormal female reproductive system physiology	157657	CFAP418	ORPHA:110
HP:0030012	Abnormal female reproductive system physiology	84100	ARL6	ORPHA:110
HP:0030012	Abnormal female reproductive system physiology	129880	BBS5	ORPHA:110
HP:0030012	Abnormal female reproductive system physiology	80173	IFT74	ORPHA:110
HP:0030012	Abnormal female reproductive system physiology	2261	FGFR3	OMIM:616482
HP:0030012	Abnormal female reproductive system physiology	63924	CIDEC	OMIM:615238
HP:0030012	Abnormal female reproductive system physiology	5257	PHKB	ORPHA:79240
HP:0030012	Abnormal female reproductive system physiology	2778	GNAS	ORPHA:562
HP:0030012	Abnormal female reproductive system physiology	2778	GNAS	ORPHA:189427
HP:0030012	Abnormal female reproductive system physiology	57697	FANCM	OMIM:618096
HP:0030012	Abnormal female reproductive system physiology	11077	HSF2BP	OMIM:619245
HP:0030012	Abnormal female reproductive system physiology	317761	C14orf39	OMIM:619203
HP:0030012	Abnormal female reproductive system physiology	26284	ERAL1	OMIM:617565
HP:0030012	Abnormal female reproductive system physiology	5256	PHKA2	ORPHA:264580
HP:0030012	Abnormal female reproductive system physiology	5261	PHKG2	ORPHA:264580
HP:0030012	Abnormal female reproductive system physiology	29072	SETD2	OMIM:616831
HP:0030012	Abnormal female reproductive system physiology	79798	ARMC5	ORPHA:189427
HP:0030012	Abnormal female reproductive system physiology	23028	KDM1A	ORPHA:189427
HP:0030012	Abnormal female reproductive system physiology	2332	FMR1	OMIM:311360
HP:0030012	Abnormal female reproductive system physiology	5696	PSMB8	OMIM:256040
HP:0030012	Abnormal female reproductive system physiology	1161	ERCC8	OMIM:216400
HP:0030012	Abnormal female reproductive system physiology	84690	SPATA22	OMIM:621002
HP:0030012	Abnormal female reproductive system physiology	1586	CYP17A1	ORPHA:90793
HP:0030012	Abnormal female reproductive system physiology	1584	CYP11B1	ORPHA:90795
HP:0030012	Abnormal female reproductive system physiology	9060	PAPSS2	OMIM:612847
HP:0030012	Abnormal female reproductive system physiology	7486	WRN	ORPHA:902
HP:0030012	Abnormal female reproductive system physiology	8891	EIF2B3	OMIM:620313
HP:0030012	Abnormal female reproductive system physiology	7086	TKT	ORPHA:488618
HP:0030012	Abnormal female reproductive system physiology	4358	MPV17	OMIM:256810
HP:0030012	Abnormal female reproductive system physiology	57817	HAMP	OMIM:613313
HP:0030012	Abnormal female reproductive system physiology	6907	TBL1X	OMIM:301033
HP:0030012	Abnormal female reproductive system physiology	5718	PSMD12	ORPHA:529962
HP:0030012	Abnormal female reproductive system physiology	2186	BPTF	ORPHA:529962
HP:0030012	Abnormal female reproductive system physiology	9563	H6PD	OMIM:604931
HP:0030012	Abnormal female reproductive system physiology	2592	GALT	ORPHA:79239
HP:0030012	Abnormal female reproductive system physiology	10273	STUB1	ORPHA:412057
HP:0030012	Abnormal female reproductive system physiology	3991	LIPE	ORPHA:435660
HP:0030012	Abnormal female reproductive system physiology	2074	ERCC6	OMIM:616946
HP:0030012	Abnormal female reproductive system physiology	208	AKT2	ORPHA:79085
HP:0030012	Abnormal female reproductive system physiology	5346	PLIN1	OMIM:613877
HP:0030012	Abnormal female reproductive system physiology	5346	PLIN1	ORPHA:280356
HP:0030012	Abnormal female reproductive system physiology	254528	MEIOB	OMIM:620686
HP:0030012	Abnormal female reproductive system physiology	221711	SYCP2L	OMIM:620840
HP:0030012	Abnormal female reproductive system physiology	83550	GPR101	ORPHA:963
HP:0030012	Abnormal female reproductive system physiology	100033413	SNORD116-1	OMIM:176270
HP:0030012	Abnormal female reproductive system physiology	8924	HERC2	OMIM:176270
HP:0030012	Abnormal female reproductive system physiology	23742	NPAP1	OMIM:176270
HP:0030012	Abnormal female reproductive system physiology	338433	SNORD115-1	OMIM:176270
HP:0030012	Abnormal female reproductive system physiology	54551	MAGEL2	OMIM:176270
HP:0030012	Abnormal female reproductive system physiology	7681	MKRN3	OMIM:176270
HP:0030012	Abnormal female reproductive system physiology	145624	PWAR1	OMIM:176270
HP:0030012	Abnormal female reproductive system physiology	3653	IPW	OMIM:176270
HP:0030012	Abnormal female reproductive system physiology	791114	PWRN1	OMIM:176270
HP:0030012	Abnormal female reproductive system physiology	493856	CISD2	OMIM:604928
HP:0030012	Abnormal female reproductive system physiology	2488	FSHB	ORPHA:52901
HP:0030012	Abnormal female reproductive system physiology	3972	LHB	OMIM:228300
HP:0030012	Abnormal female reproductive system physiology	23395	LARS2	OMIM:615300
HP:0030012	Abnormal female reproductive system physiology	54476	RNF216	OMIM:212840
HP:0030012	Abnormal female reproductive system physiology	7175	TPR	OMIM:620393
HP:0030012	Abnormal female reproductive system physiology	355	FAS	ORPHA:3261
HP:0030012	Abnormal female reproductive system physiology	356	FASLG	ORPHA:3261
HP:0030012	Abnormal female reproductive system physiology	843	CASP10	ORPHA:3261
HP:0030012	Abnormal female reproductive system physiology	55213	RCBTB1	OMIM:617175
HP:0030012	Abnormal female reproductive system physiology	1730	DIAPH2	OMIM:300511
HP:0030012	Abnormal female reproductive system physiology	9210	BMP15	OMIM:300510
HP:0030012	Abnormal female reproductive system physiology	9210	BMP15	ORPHA:243
HP:0030012	Abnormal female reproductive system physiology	4683	NBN	OMIM:251260
HP:0030012	Abnormal female reproductive system physiology	9453	GGPS1	OMIM:619518
HP:0030012	Abnormal female reproductive system physiology	147872	KASH5	OMIM:620548
HP:0030012	Abnormal female reproductive system physiology	84515	MCM8	OMIM:612885
HP:0030012	Abnormal female reproductive system physiology	2516	NR5A1	OMIM:612964
HP:0030012	Abnormal female reproductive system physiology	2516	NR5A1	ORPHA:243
HP:0030012	Abnormal female reproductive system physiology	125150	ZSWIM7	OMIM:619834
HP:0030012	Abnormal female reproductive system physiology	125150	ZSWIM7	ORPHA:243
HP:0030012	Abnormal female reproductive system physiology	64682	ANAPC1	OMIM:618625
HP:0030012	Abnormal female reproductive system physiology	64682	ANAPC1	ORPHA:221008
HP:0030012	Abnormal female reproductive system physiology	54453	RIN2	ORPHA:217335
HP:0030012	Abnormal female reproductive system physiology	79983	POF1B	OMIM:300604
HP:0030012	Abnormal female reproductive system physiology	57505	AARS2	OMIM:615889
HP:0030012	Abnormal female reproductive system physiology	10734	STAG3	OMIM:615723
HP:0030012	Abnormal female reproductive system physiology	11261	CHP1	OMIM:618438
HP:0030012	Abnormal female reproductive system physiology	8892	EIF2B2	OMIM:620312
HP:0030012	Abnormal female reproductive system physiology	8888	MCM3AP	OMIM:618124
HP:0030012	Abnormal female reproductive system physiology	51434	ANAPC7	OMIM:619699
HP:0030012	Abnormal female reproductive system physiology	646	BNC1	OMIM:618723
HP:0030012	Abnormal female reproductive system physiology	646	BNC1	ORPHA:243
HP:0030012	Abnormal female reproductive system physiology	2072	ERCC4	OMIM:610965
HP:0030012	Abnormal female reproductive system physiology	55750	AGK	OMIM:212350
HP:0030012	Abnormal female reproductive system physiology	56652	TWNK	OMIM:609286
HP:0030012	Abnormal female reproductive system physiology	1967	EIF2B1	OMIM:603896
HP:0030012	Abnormal female reproductive system physiology	29893	PSMC3IP	ORPHA:243
HP:0030012	Abnormal female reproductive system physiology	171568	POLR3H	ORPHA:243
HP:0030012	Abnormal female reproductive system physiology	57122	NUP107	ORPHA:243
HP:0030012	Abnormal female reproductive system physiology	23514	SPIDR	ORPHA:243
HP:0030012	Abnormal female reproductive system physiology	23514	SPIDR	OMIM:619665
HP:0030012	Abnormal female reproductive system physiology	2492	FSHR	ORPHA:243
HP:0030012	Abnormal female reproductive system physiology	56945	MRPS22	ORPHA:243
HP:0030012	Abnormal female reproductive system physiology	4438	MSH4	ORPHA:243
HP:0030012	Abnormal female reproductive system physiology	641	BLM	ORPHA:125
HP:0030012	Abnormal female reproductive system physiology	2583	B4GALNT1	ORPHA:101006
HP:0030012	Abnormal female reproductive system physiology	5428	POLG	OMIM:157640
HP:0030012	Abnormal female reproductive system physiology	80067	DCAF17	OMIM:241080
HP:0030012	Abnormal female reproductive system physiology	7516	XRCC2	OMIM:619146
HP:0030012	Abnormal female reproductive system physiology	344018	FIGLA	OMIM:612310
HP:0030012	Abnormal female reproductive system physiology	26146	TRAF3IP1	ORPHA:3156
HP:0030012	Abnormal female reproductive system physiology	9657	IQCB1	ORPHA:3156
HP:0030012	Abnormal female reproductive system physiology	27130	INVS	ORPHA:3156
HP:0030012	Abnormal female reproductive system physiology	261734	NPHP4	ORPHA:3156
HP:0030012	Abnormal female reproductive system physiology	57728	WDR19	ORPHA:3156
HP:0030012	Abnormal female reproductive system physiology	27031	NPHP3	ORPHA:3156
HP:0030012	Abnormal female reproductive system physiology	22897	CEP164	ORPHA:3156
HP:0030012	Abnormal female reproductive system physiology	135935	NOBOX	OMIM:611548
HP:0030012	Abnormal female reproductive system physiology	5373	PMM2	OMIM:212065
HP:0030012	Abnormal female reproductive system physiology	2584	GALK1	ORPHA:79237
HP:0030012	Abnormal female reproductive system physiology	80185	TTI2	ORPHA:391307
HP:0030012	Abnormal female reproductive system physiology	5192	PEX10	OMIM:614871
HP:0030012	Abnormal female reproductive system physiology	4000	LMNA	ORPHA:740
HP:0030012	Abnormal female reproductive system physiology	10269	ZMPSTE24	ORPHA:740
HP:0030012	Abnormal female reproductive system physiology	10165	SLC25A13	ORPHA:247585
HP:0030012	Abnormal female reproductive system physiology	10059	DNM1L	ORPHA:330050
HP:0030012	Abnormal female reproductive system physiology	78995	HROB	OMIM:620897
HP:0030012	Abnormal female reproductive system physiology	22800	RRAS2	ORPHA:648
HP:0030012	Abnormal female reproductive system physiology	867	CBL	ORPHA:648
HP:0030012	Abnormal female reproductive system physiology	8216	LZTR1	ORPHA:648
HP:0030012	Abnormal female reproductive system physiology	6016	RIT1	ORPHA:648
HP:0030012	Abnormal female reproductive system physiology	6237	RRAS	ORPHA:648
HP:0030012	Abnormal female reproductive system physiology	5894	RAF1	ORPHA:648
HP:0030012	Abnormal female reproductive system physiology	22808	MRAS	ORPHA:648
HP:0030012	Abnormal female reproductive system physiology	3845	KRAS	ORPHA:648
HP:0030012	Abnormal female reproductive system physiology	200734	SPRED2	ORPHA:648
HP:0030012	Abnormal female reproductive system physiology	4893	NRAS	ORPHA:648
HP:0030012	Abnormal female reproductive system physiology	6654	SOS1	ORPHA:648
HP:0030012	Abnormal female reproductive system physiology	6655	SOS2	ORPHA:648
HP:0030012	Abnormal female reproductive system physiology	5781	PTPN11	ORPHA:648
HP:0030012	Abnormal female reproductive system physiology	5781	PTPN11	OMIM:151100
HP:0030012	Abnormal female reproductive system physiology	5922	RASA2	ORPHA:648
HP:0030012	Abnormal female reproductive system physiology	2690	GHR	OMIM:262500
HP:0030012	Abnormal female reproductive system physiology	6253	RTN2	ORPHA:100993
HP:0030012	Abnormal female reproductive system physiology	51271	UBAP1	ORPHA:100993
HP:0030012	Abnormal female reproductive system physiology	54832	VPS13C	ORPHA:2828
HP:0030012	Abnormal female reproductive system physiology	11315	PARK7	ORPHA:2828
HP:0030012	Abnormal female reproductive system physiology	7345	UCHL1	ORPHA:2828
HP:0030012	Abnormal female reproductive system physiology	27429	HTRA2	ORPHA:2828
HP:0030012	Abnormal female reproductive system physiology	120892	LRRK2	ORPHA:2828
HP:0030012	Abnormal female reproductive system physiology	9829	DNAJC6	ORPHA:2828
HP:0030012	Abnormal female reproductive system physiology	6622	SNCA	ORPHA:2828
HP:0030012	Abnormal female reproductive system physiology	5420	PODXL	ORPHA:2828
HP:0030012	Abnormal female reproductive system physiology	65018	PINK1	ORPHA:2828
HP:0030012	Abnormal female reproductive system physiology	8867	SYNJ1	ORPHA:2828
HP:0030012	Abnormal female reproductive system physiology	5071	PRKN	ORPHA:2828
HP:0030012	Abnormal female reproductive system physiology	1512	CTSH	ORPHA:2073
HP:0030012	Abnormal female reproductive system physiology	5032	P2RY11	ORPHA:2073
HP:0030012	Abnormal female reproductive system physiology	4340	MOG	ORPHA:2073
HP:0030012	Abnormal female reproductive system physiology	3119	HLA-DQB1	ORPHA:2073
HP:0030012	Abnormal female reproductive system physiology	3060	HCRT	ORPHA:2073
HP:0030012	Abnormal female reproductive system physiology	22891	ZNF365	ORPHA:2073
HP:0030012	Abnormal female reproductive system physiology	7292	TNFSF4	ORPHA:2073
HP:0030012	Abnormal female reproductive system physiology	3123	HLA-DRB1	ORPHA:2073
HP:0030012	Abnormal female reproductive system physiology	215	ABCD1	ORPHA:139399
HP:0030012	Abnormal female reproductive system physiology	27235	COQ2	ORPHA:227510
HP:0030012	Abnormal female reproductive system physiology	27235	COQ2	ORPHA:98933
HP:0030012	Abnormal female reproductive system physiology	2535	FZD2	OMIM:164745
HP:0030012	Abnormal female reproductive system physiology	3106	HLA-B	ORPHA:36426
HP:0030012	Abnormal female reproductive system physiology	10320	IKZF1	ORPHA:36426
HP:0030012	Abnormal female reproductive system physiology	84818	IL17RC	ORPHA:1334
HP:0030012	Abnormal female reproductive system physiology	64581	CLEC7A	ORPHA:1334
HP:0030012	Abnormal female reproductive system physiology	23765	IL17RA	ORPHA:1334
HP:0030012	Abnormal female reproductive system physiology	10758	TRAF3IP2	ORPHA:1334
HP:0030012	Abnormal female reproductive system physiology	112744	IL17F	ORPHA:1334
HP:0030012	Abnormal female reproductive system physiology	1235	CCR6	ORPHA:220393
HP:0030012	Abnormal female reproductive system physiology	1490	CCN2	ORPHA:220393
HP:0030012	Abnormal female reproductive system physiology	3663	IRF5	ORPHA:220393
HP:0030012	Abnormal female reproductive system physiology	2260	FGFR1	ORPHA:478
HP:0030012	Abnormal female reproductive system physiology	10371	SEMA3A	ORPHA:478
HP:0030012	Abnormal female reproductive system physiology	81848	SPRY4	ORPHA:478
HP:0030012	Abnormal female reproductive system physiology	23767	FLRT3	ORPHA:478
HP:0030012	Abnormal female reproductive system physiology	128674	PROKR2	ORPHA:478
HP:0030012	Abnormal female reproductive system physiology	79625	NDNF	ORPHA:478
HP:0030012	Abnormal female reproductive system physiology	2253	FGF8	ORPHA:478
HP:0030012	Abnormal female reproductive system physiology	389549	FEZF1	ORPHA:478
HP:0030012	Abnormal female reproductive system physiology	1630	DCC	ORPHA:478
HP:0030012	Abnormal female reproductive system physiology	3730	ANOS1	ORPHA:478
HP:0030012	Abnormal female reproductive system physiology	54756	IL17RD	ORPHA:478
HP:0030012	Abnormal female reproductive system physiology	6663	SOX10	ORPHA:478
HP:0030012	Abnormal female reproductive system physiology	285025	CCDC141	ORPHA:478
HP:0030012	Abnormal female reproductive system physiology	60675	PROK2	ORPHA:478
HP:0030012	Abnormal female reproductive system physiology	55636	CHD7	ORPHA:478
HP:0030012	Abnormal female reproductive system physiology	1848	DUSP6	ORPHA:478
HP:0030012	Abnormal female reproductive system physiology	6870	TACR3	ORPHA:478
HP:0030012	Abnormal female reproductive system physiology	55717	WDR11	ORPHA:478
HP:0030012	Abnormal female reproductive system physiology	9394	HS6ST1	ORPHA:478
HP:0030012	Abnormal female reproductive system physiology	8822	FGF17	ORPHA:478
HP:0030012	Abnormal female reproductive system physiology	26012	NSMF	ORPHA:432
HP:0030012	Abnormal female reproductive system physiology	4808	NHLH2	ORPHA:432
HP:0030012	Abnormal female reproductive system physiology	2796	GNRH1	ORPHA:432
HP:0030012	Abnormal female reproductive system physiology	2798	GNRHR	ORPHA:432
HP:0030012	Abnormal female reproductive system physiology	84634	KISS1R	ORPHA:432
HP:0030012	Abnormal female reproductive system physiology	6866	TAC3	ORPHA:432
HP:0030012	Abnormal female reproductive system physiology	3814	KISS1	ORPHA:432
HP:0030012	Abnormal female reproductive system physiology	79228	THOC6	ORPHA:363444
HP:0030012	Abnormal female reproductive system physiology	79228	THOC6	OMIM:613680
HP:0030012	Abnormal female reproductive system physiology	79803	HPS6	OMIM:614075
HP:0030012	Abnormal female reproductive system physiology	9103	FCGR2C	ORPHA:3002
HP:0030012	Abnormal female reproductive system physiology	1528	CYB5A	ORPHA:90796
HP:0030012	Abnormal female reproductive system physiology	3481	IGF2	ORPHA:397590
HP:0030012	Abnormal female reproductive system physiology	1028	CDKN1C	ORPHA:397590
HP:0030012	Abnormal female reproductive system physiology	5324	PLAG1	ORPHA:397590
HP:0030012	Abnormal female reproductive system physiology	8091	HMGA2	ORPHA:397590
HP:0030012	Abnormal female reproductive system physiology	6774	STAT3	ORPHA:520
HP:0030012	Abnormal female reproductive system physiology	5371	PML	ORPHA:520
HP:0030012	Abnormal female reproductive system physiology	5914	RARA	ORPHA:520
HP:0030012	Abnormal female reproductive system physiology	359948	IRF2BP2	ORPHA:520
HP:0030012	Abnormal female reproductive system physiology	81608	FIP1L1	ORPHA:520
HP:0030012	Abnormal female reproductive system physiology	4869	NPM1	ORPHA:520
HP:0030012	Abnormal female reproductive system physiology	54880	BCOR	ORPHA:520
HP:0030012	Abnormal female reproductive system physiology	64859	NABP1	ORPHA:520
HP:0030012	Abnormal female reproductive system physiology	6777	STAT5B	ORPHA:520
HP:0030012	Abnormal female reproductive system physiology	4926	NUMA1	ORPHA:520
HP:0030012	Abnormal female reproductive system physiology	7704	ZBTB16	ORPHA:520
HP:0030012	Abnormal female reproductive system physiology	79718	TBL1XR1	ORPHA:520
HP:0030012	Abnormal female reproductive system physiology	2243	FGA	ORPHA:98880
HP:0030012	Abnormal female reproductive system physiology	2244	FGB	ORPHA:98880
HP:0030012	Abnormal female reproductive system physiology	2266	FGG	ORPHA:98880
HP:0030011	Imperforate hymen	54101	RIPK4	ORPHA:1401
HP:0030011	Imperforate hymen	57514	ARHGAP31	OMIM:100300
HP:0030011	Imperforate hymen	3708	ITPR1	OMIM:206700
HP:0030011	Imperforate hymen	6926	TBX3	OMIM:181450
HP:0030011	Imperforate hymen	7750	ZMYM2	OMIM:619522
HP:0030019	Increased female libido	2260	FGFR1	ORPHA:432
HP:0030019	Increased female libido	81848	SPRY4	ORPHA:432
HP:0030019	Increased female libido	128674	PROKR2	ORPHA:432
HP:0030019	Increased female libido	2253	FGF8	ORPHA:432
HP:0030019	Increased female libido	60675	PROK2	ORPHA:432
HP:0030019	Increased female libido	55636	CHD7	ORPHA:432
HP:0030019	Increased female libido	6870	TACR3	ORPHA:432
HP:0030019	Increased female libido	1848	DUSP6	ORPHA:432
HP:0030019	Increased female libido	26012	NSMF	ORPHA:432
HP:0030019	Increased female libido	55717	WDR11	ORPHA:432
HP:0030019	Increased female libido	4808	NHLH2	ORPHA:432
HP:0030019	Increased female libido	9394	HS6ST1	ORPHA:432
HP:0030019	Increased female libido	2796	GNRH1	ORPHA:432
HP:0030019	Increased female libido	2798	GNRHR	ORPHA:432
HP:0030019	Increased female libido	84634	KISS1R	ORPHA:432
HP:0030019	Increased female libido	6866	TAC3	ORPHA:432
HP:0030019	Increased female libido	8822	FGF17	ORPHA:432
HP:0030019	Increased female libido	3814	KISS1	ORPHA:432
HP:0030021	Auricular tag	2737	GLI3	ORPHA:672
HP:0030026	Squared superior portion of helix	4131	MAP1B	OMIM:618918
HP:0030025	Auricular pit	10584	COLEC10	OMIM:248340
HP:0030022	Question mark ear	5332	PLCB4	OMIM:620458
HP:0030022	Question mark ear	5332	PLCB4	ORPHA:137888
HP:0030022	Question mark ear	1906	EDN1	OMIM:612798
HP:0030022	Question mark ear	1906	EDN1	ORPHA:137888
HP:0030022	Question mark ear	1906	EDN1	OMIM:615706
HP:0030022	Question mark ear	2773	GNAI3	ORPHA:137888
HP:0030022	Question mark ear	9734	HDAC9	OMIM:620457
HP:0030080	Burkitt lymphoma	399	RHOH	OMIM:618307
HP:0030080	Burkitt lymphoma	355	FAS	ORPHA:3261
HP:0030080	Burkitt lymphoma	356	FASLG	ORPHA:3261
HP:0030080	Burkitt lymphoma	843	CASP10	ORPHA:3261
HP:0030080	Burkitt lymphoma	4773	NFATC2	OMIM:620232
HP:0030080	Burkitt lymphoma	4068	SH2D1A	OMIM:308240
HP:0030080	Burkitt lymphoma	331	XIAP	OMIM:308240
HP:0030080	Burkitt lymphoma	4609	MYC	OMIM:113970
HP:0030081	Punctate periventricular T2 hyperintense foci	410	ARSA	ORPHA:309271
HP:0030081	Punctate periventricular T2 hyperintense foci	410	ARSA	ORPHA:309263
HP:0030081	Punctate periventricular T2 hyperintense foci	410	ARSA	ORPHA:309256
HP:0030081	Punctate periventricular T2 hyperintense foci	5660	PSAP	ORPHA:309271
HP:0030081	Punctate periventricular T2 hyperintense foci	5660	PSAP	ORPHA:309263
HP:0030081	Punctate periventricular T2 hyperintense foci	5660	PSAP	ORPHA:309256
HP:0030081	Punctate periventricular T2 hyperintense foci	1267	CNP	OMIM:619071
HP:0030081	Punctate periventricular T2 hyperintense foci	2760	GM2A	ORPHA:309246
HP:0030082	Abnormal drinking behavior	261734	NPHP4	OMIM:606996
HP:0030082	Abnormal drinking behavior	261734	NPHP4	OMIM:606966
HP:0030082	Abnormal drinking behavior	1497	CTNS	OMIM:219800
HP:0030082	Abnormal drinking behavior	1497	CTNS	ORPHA:411629
HP:0030082	Abnormal drinking behavior	1497	CTNS	ORPHA:411634
HP:0030082	Abnormal drinking behavior	284086	NEK8	OMIM:620903
HP:0030082	Abnormal drinking behavior	284086	NEK8	OMIM:613824
HP:0030082	Abnormal drinking behavior	359	AQP2	OMIM:125800
HP:0030082	Abnormal drinking behavior	359	AQP2	ORPHA:223
HP:0030082	Abnormal drinking behavior	54585	LZTFL1	OMIM:615994
HP:0030082	Abnormal drinking behavior	493856	CISD2	ORPHA:3463
HP:0030082	Abnormal drinking behavior	7466	WFS1	ORPHA:3463
HP:0030082	Abnormal drinking behavior	9881	TRANK1	ORPHA:33543
HP:0030082	Abnormal drinking behavior	6928	HNF1B	ORPHA:93111
HP:0030082	Abnormal drinking behavior	554	AVPR2	ORPHA:223
HP:0030082	Abnormal drinking behavior	554	AVPR2	OMIM:304800
HP:0030082	Abnormal drinking behavior	3766	KCNJ10	ORPHA:199343
HP:0030082	Abnormal drinking behavior	3766	KCNJ10	OMIM:612780
HP:0030082	Abnormal drinking behavior	79577	CDC73	ORPHA:143
HP:0030082	Abnormal drinking behavior	79577	CDC73	ORPHA:99880
HP:0030082	Abnormal drinking behavior	4867	NPHP1	OMIM:266900
HP:0030082	Abnormal drinking behavior	4867	NPHP1	OMIM:256100
HP:0030082	Abnormal drinking behavior	51473	DCDC2	ORPHA:84081
HP:0030082	Abnormal drinking behavior	91147	TMEM67	ORPHA:84081
HP:0030082	Abnormal drinking behavior	91147	TMEM67	OMIM:613550
HP:0030082	Abnormal drinking behavior	10686	CLDN16	OMIM:248250
HP:0030082	Abnormal drinking behavior	3662	IRF4	ORPHA:3452
HP:0030082	Abnormal drinking behavior	199221	DZIP1L	ORPHA:731
HP:0030082	Abnormal drinking behavior	5314	PKHD1	ORPHA:731
HP:0030082	Abnormal drinking behavior	9071	CLDN10	OMIM:617671
HP:0030082	Abnormal drinking behavior	9365	KL	OMIM:617994
HP:0030082	Abnormal drinking behavior	114548	NLRP3	ORPHA:47045
HP:0030082	Abnormal drinking behavior	551	AVP	ORPHA:30925
HP:0030082	Abnormal drinking behavior	3762	KCNJ5	OMIM:613677
HP:0030082	Abnormal drinking behavior	3762	KCNJ5	ORPHA:251274
HP:0030082	Abnormal drinking behavior	5078	PAX4	OMIM:612225
HP:0030082	Abnormal drinking behavior	3643	INSR	ORPHA:769
HP:0030082	Abnormal drinking behavior	1584	CYP11B1	ORPHA:403
HP:0030082	Abnormal drinking behavior	1585	CYP11B2	ORPHA:403
HP:0030082	Abnormal drinking behavior	3291	HSD11B2	ORPHA:320
HP:0030082	Abnormal drinking behavior	7809	BSND	OMIM:602522
HP:0030082	Abnormal drinking behavior	26191	PTPN22	OMIM:222100
HP:0030082	Abnormal drinking behavior	3710	ITPR3	OMIM:222100
HP:0030082	Abnormal drinking behavior	3569	IL6	OMIM:222100
HP:0030082	Abnormal drinking behavior	6927	HNF1A	OMIM:222100
HP:0030082	Abnormal drinking behavior	776	CACNA1D	ORPHA:369929
HP:0030082	Abnormal drinking behavior	254428	SLC41A1	OMIM:619468
HP:0030082	Abnormal drinking behavior	583	BBS2	OMIM:615981
HP:0030082	Abnormal drinking behavior	3758	KCNJ1	OMIM:241200
HP:0030082	Abnormal drinking behavior	9860	LRIG2	ORPHA:2704
HP:0030082	Abnormal drinking behavior	60495	HPSE2	ORPHA:2704
HP:0030082	Abnormal drinking behavior	6559	SLC12A3	OMIM:263800
HP:0030082	Abnormal drinking behavior	6559	SLC12A3	ORPHA:358
HP:0030082	Abnormal drinking behavior	27241	BBS9	OMIM:615986
HP:0030082	Abnormal drinking behavior	27031	NPHP3	OMIM:604387
HP:0030082	Abnormal drinking behavior	2260	FGFR1	ORPHA:3157
HP:0030082	Abnormal drinking behavior	128674	PROKR2	ORPHA:3157
HP:0030082	Abnormal drinking behavior	6657	SOX2	ORPHA:3157
HP:0030082	Abnormal drinking behavior	6658	SOX3	ORPHA:3157
HP:0030082	Abnormal drinking behavior	9915	ARNT2	ORPHA:3157
HP:0030082	Abnormal drinking behavior	8820	HESX1	ORPHA:3157
HP:0030082	Abnormal drinking behavior	5015	OTX2	ORPHA:3157
HP:0030082	Abnormal drinking behavior	1188	CLCNKB	ORPHA:358
HP:0030082	Abnormal drinking behavior	846	CASR	OMIM:239200
HP:0030082	Abnormal drinking behavior	6524	SLC5A2	OMIM:233100
HP:0030082	Abnormal drinking behavior	7080	NKX2-1	ORPHA:209905
HP:0030083	Salt craving	3766	KCNJ10	ORPHA:199343
HP:0030083	Salt craving	3766	KCNJ10	OMIM:612780
HP:0030083	Salt craving	6559	SLC12A3	OMIM:263800
HP:0030083	Salt craving	6559	SLC12A3	ORPHA:358
HP:0030083	Salt craving	1188	CLCNKB	ORPHA:358
HP:0030084	Clinodactyly	89970	RSPRY1	ORPHA:457395
HP:0030084	Clinodactyly	23314	SATB2	ORPHA:251019
HP:0030084	Clinodactyly	490	ATP2B1	OMIM:619910
HP:0030084	Clinodactyly	6299	SALL1	ORPHA:857
HP:0030084	Clinodactyly	51339	DACT1	ORPHA:857
HP:0030084	Clinodactyly	2313	FLI1	ORPHA:2308
HP:0030084	Clinodactyly	6874	TAF4	OMIM:620450
HP:0030084	Clinodactyly	64864	RFX7	OMIM:620330
HP:0030084	Clinodactyly	5283	PIGH	OMIM:618010
HP:0030084	Clinodactyly	341208	HEPHL1	OMIM:261990
HP:0030084	Clinodactyly	25782	RAB3GAP2	OMIM:614225
HP:0030084	Clinodactyly	6049	RNF6	ORPHA:99977
HP:0030084	Clinodactyly	7048	TGFBR2	ORPHA:99977
HP:0030084	Clinodactyly	51741	WWOX	ORPHA:99977
HP:0030084	Clinodactyly	9940	DLEC1	ORPHA:99977
HP:0030084	Clinodactyly	118924	FRA10AC1	OMIM:620113
HP:0030084	Clinodactyly	3759	KCNJ2	OMIM:170390
HP:0030084	Clinodactyly	3759	KCNJ2	ORPHA:37553
HP:0030084	Clinodactyly	3762	KCNJ5	ORPHA:37553
HP:0030084	Clinodactyly	11253	MAN1B1	ORPHA:397941
HP:0030084	Clinodactyly	11253	MAN1B1	OMIM:614202
HP:0030084	Clinodactyly	340533	NEXMIF	OMIM:300912
HP:0030084	Clinodactyly	1139	CHRNA7	ORPHA:199318
HP:0030084	Clinodactyly	1139	CHRNA7	OMIM:612001
HP:0030084	Clinodactyly	2132	EXT2	OMIM:616682
HP:0030084	Clinodactyly	23135	KDM6B	OMIM:618505
HP:0030084	Clinodactyly	1947	EFNB1	ORPHA:1520
HP:0030084	Clinodactyly	1947	EFNB1	OMIM:304110
HP:0030084	Clinodactyly	4010	LMX1B	ORPHA:2614
HP:0030084	Clinodactyly	4010	LMX1B	OMIM:161200
HP:0030084	Clinodactyly	10054	UBA2	OMIM:619959
HP:0030084	Clinodactyly	51126	NAA20	OMIM:619717
HP:0030084	Clinodactyly	2972	BRF1	OMIM:616202
HP:0030084	Clinodactyly	9820	CUL7	ORPHA:2616
HP:0030084	Clinodactyly	9820	CUL7	OMIM:273750
HP:0030084	Clinodactyly	83987	CCDC8	ORPHA:2616
HP:0030084	Clinodactyly	83987	CCDC8	OMIM:614205
HP:0030084	Clinodactyly	7021	TFAP2B	OMIM:169100
HP:0030084	Clinodactyly	7021	TFAP2B	ORPHA:46627
HP:0030084	Clinodactyly	7021	TFAP2B	OMIM:617035
HP:0030084	Clinodactyly	5927	KDM5A	OMIM:620820
HP:0030084	Clinodactyly	3481	IGF2	ORPHA:231140
HP:0030084	Clinodactyly	3481	IGF2	ORPHA:231144
HP:0030084	Clinodactyly	3481	IGF2	OMIM:616489
HP:0030084	Clinodactyly	3481	IGF2	OMIM:180860
HP:0030084	Clinodactyly	3481	IGF2	ORPHA:397590
HP:0030084	Clinodactyly	283120	H19	ORPHA:231140
HP:0030084	Clinodactyly	283120	H19	ORPHA:231144
HP:0030084	Clinodactyly	197131	UBR1	OMIM:243800
HP:0030084	Clinodactyly	5932	RBBP8	OMIM:606744
HP:0030084	Clinodactyly	5932	RBBP8	ORPHA:808
HP:0030084	Clinodactyly	3021	H3-3B	OMIM:619721
HP:0030084	Clinodactyly	4286	MITF	OMIM:617306
HP:0030084	Clinodactyly	23384	SPECC1L	ORPHA:1519
HP:0030084	Clinodactyly	112752	IFT43	ORPHA:1515
HP:0030084	Clinodactyly	51098	IFT52	ORPHA:1515
HP:0030084	Clinodactyly	57728	WDR19	ORPHA:1515
HP:0030084	Clinodactyly	55636	CHD7	ORPHA:138
HP:0030084	Clinodactyly	9723	SEMA3E	ORPHA:138
HP:0030084	Clinodactyly	3190	HNRNPK	OMIM:616580
HP:0030084	Clinodactyly	25885	POLR1A	OMIM:616462
HP:0030084	Clinodactyly	10606	PAICS	OMIM:619859
HP:0030084	Clinodactyly	1009	CDH11	OMIM:619736
HP:0030084	Clinodactyly	7020	TFAP2A	OMIM:113620
HP:0030084	Clinodactyly	727857	BHLHA9	ORPHA:157801
HP:0030084	Clinodactyly	727857	BHLHA9	OMIM:609432
HP:0030084	Clinodactyly	652	BMP4	OMIM:607932
HP:0030084	Clinodactyly	1301	COL11A1	OMIM:228520
HP:0030084	Clinodactyly	1301	COL11A1	OMIM:154780
HP:0030084	Clinodactyly	23327	NEDD4L	OMIM:617201
HP:0030084	Clinodactyly	7291	TWIST1	OMIM:101400
HP:0030084	Clinodactyly	7291	TWIST1	ORPHA:794
HP:0030084	Clinodactyly	2783	GNB2	OMIM:619503
HP:0030084	Clinodactyly	3981	LIG4	ORPHA:235
HP:0030084	Clinodactyly	3981	LIG4	ORPHA:99812
HP:0030084	Clinodactyly	3981	LIG4	OMIM:606593
HP:0030084	Clinodactyly	54888	NSUN2	ORPHA:235
HP:0030084	Clinodactyly	1182	CLCN3	OMIM:619512
HP:0030084	Clinodactyly	85301	COL27A1	OMIM:615155
HP:0030084	Clinodactyly	57680	CHD8	OMIM:615032
HP:0030084	Clinodactyly	5048	PAFAH1B1	ORPHA:217385
HP:0030084	Clinodactyly	5048	PAFAH1B1	ORPHA:531
HP:0030084	Clinodactyly	7531	YWHAE	ORPHA:217385
HP:0030084	Clinodactyly	7531	YWHAE	ORPHA:531
HP:0030084	Clinodactyly	132884	EVC2	OMIM:193530
HP:0030084	Clinodactyly	132884	EVC2	ORPHA:952
HP:0030084	Clinodactyly	2121	EVC	OMIM:193530
HP:0030084	Clinodactyly	2121	EVC	ORPHA:952
HP:0030084	Clinodactyly	2550	GABBR1	OMIM:620502
HP:0030084	Clinodactyly	8364	H4C3	OMIM:619758
HP:0030084	Clinodactyly	5590	PRKCZ	ORPHA:1606
HP:0030084	Clinodactyly	2563	GABRD	ORPHA:1606
HP:0030084	Clinodactyly	23013	SPEN	ORPHA:1606
HP:0030084	Clinodactyly	8510	MMP23B	ORPHA:1606
HP:0030084	Clinodactyly	7798	LUZP1	ORPHA:1606
HP:0030084	Clinodactyly	6497	SKI	ORPHA:1606
HP:0030084	Clinodactyly	10630	PDPN	ORPHA:1606
HP:0030084	Clinodactyly	3339	HSPG2	ORPHA:1606
HP:0030084	Clinodactyly	10277	UBE4B	ORPHA:1606
HP:0030084	Clinodactyly	8514	KCNAB2	ORPHA:1606
HP:0030084	Clinodactyly	473	RERE	ORPHA:1606
HP:0030084	Clinodactyly	473	RERE	OMIM:616975
HP:0030084	Clinodactyly	63976	PRDM16	ORPHA:1606
HP:0030084	Clinodactyly	54897	CASZ1	ORPHA:1606
HP:0030084	Clinodactyly	6134	RPL10	ORPHA:459070
HP:0030084	Clinodactyly	6134	RPL10	OMIM:300998
HP:0030084	Clinodactyly	7750	ZMYM2	OMIM:619522
HP:0030084	Clinodactyly	4849	CNOT3	OMIM:618672
HP:0030084	Clinodactyly	6942	TCF20	OMIM:618430
HP:0030084	Clinodactyly	641	BLM	OMIM:210900
HP:0030084	Clinodactyly	2719	GPC3	ORPHA:373
HP:0030084	Clinodactyly	23162	MAPK8IP3	OMIM:618443
HP:0030084	Clinodactyly	23483	TGDS	OMIM:616145
HP:0030084	Clinodactyly	23483	TGDS	ORPHA:1388
HP:0030084	Clinodactyly	57479	PRR12	OMIM:619539
HP:0030084	Clinodactyly	2317	FLNB	OMIM:272460
HP:0030084	Clinodactyly	79087	ALG12	ORPHA:79324
HP:0030084	Clinodactyly	6473	SHOX	ORPHA:240
HP:0030084	Clinodactyly	1387	CREBBP	OMIM:618332
HP:0030084	Clinodactyly	1387	CREBBP	OMIM:180849
HP:0030084	Clinodactyly	1387	CREBBP	ORPHA:592574
HP:0030084	Clinodactyly	26100	WIPI2	OMIM:618453
HP:0030084	Clinodactyly	10533	ATG7	OMIM:619422
HP:0030084	Clinodactyly	8295	TRRAP	OMIM:618454
HP:0030084	Clinodactyly	9742	IFT140	OMIM:266920
HP:0030084	Clinodactyly	9949	AMMECR1	OMIM:300990
HP:0030084	Clinodactyly	658	BMPR1B	OMIM:112600
HP:0030084	Clinodactyly	658	BMPR1B	ORPHA:93396
HP:0030084	Clinodactyly	658	BMPR1B	ORPHA:93384
HP:0030084	Clinodactyly	658	BMPR1B	ORPHA:93388
HP:0030084	Clinodactyly	658	BMPR1B	OMIM:616849
HP:0030084	Clinodactyly	650	BMP2	OMIM:112600
HP:0030084	Clinodactyly	650	BMP2	ORPHA:93396
HP:0030084	Clinodactyly	650	BMP2	OMIM:617877
HP:0030084	Clinodactyly	6477	SIAH1	OMIM:619314
HP:0030084	Clinodactyly	10785	WDR4	OMIM:618347
HP:0030084	Clinodactyly	100151683	RNU4ATAC	ORPHA:353298
HP:0030084	Clinodactyly	100151683	RNU4ATAC	OMIM:226960
HP:0030084	Clinodactyly	100151683	RNU4ATAC	OMIM:616651
HP:0030084	Clinodactyly	100151683	RNU4ATAC	ORPHA:2636
HP:0030084	Clinodactyly	170689	ADAMTS15	OMIM:620545
HP:0030084	Clinodactyly	90459	ERI1	OMIM:620663
HP:0030084	Clinodactyly	90459	ERI1	OMIM:620662
HP:0030084	Clinodactyly	4076	CAPRIN1	OMIM:620782
HP:0030084	Clinodactyly	55869	HDAC8	OMIM:300882
HP:0030084	Clinodactyly	55869	HDAC8	ORPHA:199
HP:0030084	Clinodactyly	117581	TWIST2	OMIM:200110
HP:0030084	Clinodactyly	117581	TWIST2	OMIM:209885
HP:0030084	Clinodactyly	23030	KDM4B	OMIM:619320
HP:0030084	Clinodactyly	9126	SMC3	OMIM:610759
HP:0030084	Clinodactyly	9126	SMC3	ORPHA:199
HP:0030084	Clinodactyly	1725	DHPS	OMIM:618480
HP:0030084	Clinodactyly	55777	MBD5	OMIM:156200
HP:0030084	Clinodactyly	55777	MBD5	ORPHA:228402
HP:0030084	Clinodactyly	5980	REV3L	ORPHA:570
HP:0030084	Clinodactyly	23129	PLXND1	ORPHA:570
HP:0030084	Clinodactyly	4998	ORC1	OMIM:224690
HP:0030084	Clinodactyly	4998	ORC1	ORPHA:2554
HP:0030084	Clinodactyly	4052	LTBP1	OMIM:619451
HP:0030084	Clinodactyly	7468	NSD2	OMIM:619695
HP:0030084	Clinodactyly	23476	BRD4	OMIM:620568
HP:0030084	Clinodactyly	23476	BRD4	ORPHA:199
HP:0030084	Clinodactyly	9496	TBX4	ORPHA:261279
HP:0030084	Clinodactyly	8091	HMGA2	ORPHA:94063
HP:0030084	Clinodactyly	8091	HMGA2	ORPHA:397590
HP:0030084	Clinodactyly	23592	LEMD3	ORPHA:94063
HP:0030084	Clinodactyly	164	AP1G1	OMIM:619467
HP:0030084	Clinodactyly	51715	RAB23	ORPHA:65759
HP:0030084	Clinodactyly	51715	RAB23	OMIM:201000
HP:0030084	Clinodactyly	1954	MEGF8	ORPHA:65759
HP:0030084	Clinodactyly	1954	MEGF8	OMIM:614976
HP:0030084	Clinodactyly	50801	KCNK4	OMIM:618381
HP:0030084	Clinodactyly	9757	KMT2B	ORPHA:589618
HP:0030084	Clinodactyly	4613	MYCN	ORPHA:391641
HP:0030084	Clinodactyly	57003	CCDC47	OMIM:618268
HP:0030084	Clinodactyly	8812	CCNK	OMIM:618147
HP:0030084	Clinodactyly	29895	MYL11	OMIM:619110
HP:0030084	Clinodactyly	94005	PIGS	OMIM:618143
HP:0030084	Clinodactyly	145173	B3GLCT	OMIM:261540
HP:0030084	Clinodactyly	145173	B3GLCT	ORPHA:709
HP:0030084	Clinodactyly	2033	EP300	OMIM:180849
HP:0030084	Clinodactyly	92002	CCNQ	OMIM:300707
HP:0030084	Clinodactyly	92002	CCNQ	ORPHA:140952
HP:0030084	Clinodactyly	285590	SH3PXD2B	ORPHA:137834
HP:0030084	Clinodactyly	80036	TRPM3	OMIM:620224
HP:0030084	Clinodactyly	1836	SLC26A2	ORPHA:628
HP:0030084	Clinodactyly	526	ATP6V1B2	ORPHA:79500
HP:0030084	Clinodactyly	57465	TBC1D24	ORPHA:79500
HP:0030084	Clinodactyly	57465	TBC1D24	OMIM:220500
HP:0030084	Clinodactyly	207	AKT1	ORPHA:744
HP:0030084	Clinodactyly	1457	CSNK2A1	OMIM:617062
HP:0030084	Clinodactyly	7204	TRIO	OMIM:617061
HP:0030084	Clinodactyly	7204	TRIO	ORPHA:476126
HP:0030084	Clinodactyly	2077	ERF	OMIM:617180
HP:0030084	Clinodactyly	28952	CCDC22	OMIM:300963
HP:0030084	Clinodactyly	90416	CCDC32	OMIM:619123
HP:0030084	Clinodactyly	8450	CUL4B	ORPHA:85293
HP:0030084	Clinodactyly	55717	WDR11	OMIM:620237
HP:0030084	Clinodactyly	22995	CEP152	OMIM:613823
HP:0030084	Clinodactyly	22995	CEP152	ORPHA:808
HP:0030084	Clinodactyly	3549	IHH	OMIM:112500
HP:0030084	Clinodactyly	3549	IHH	ORPHA:93388
HP:0030084	Clinodactyly	3090	HIC1	ORPHA:531
HP:0030084	Clinodactyly	10436	EMG1	OMIM:211180
HP:0030084	Clinodactyly	10436	EMG1	ORPHA:1270
HP:0030084	Clinodactyly	23387	SIK3	OMIM:618162
HP:0030084	Clinodactyly	10084	PQBP1	OMIM:309500
HP:0030084	Clinodactyly	22800	RRAS2	ORPHA:648
HP:0030084	Clinodactyly	867	CBL	ORPHA:648
HP:0030084	Clinodactyly	8216	LZTR1	ORPHA:648
HP:0030084	Clinodactyly	6016	RIT1	ORPHA:648
HP:0030084	Clinodactyly	6237	RRAS	ORPHA:648
HP:0030084	Clinodactyly	5894	RAF1	ORPHA:648
HP:0030084	Clinodactyly	22808	MRAS	ORPHA:648
HP:0030084	Clinodactyly	3845	KRAS	ORPHA:648
HP:0030084	Clinodactyly	4893	NRAS	ORPHA:648
HP:0030084	Clinodactyly	6654	SOS1	ORPHA:648
HP:0030084	Clinodactyly	6655	SOS2	ORPHA:648
HP:0030084	Clinodactyly	5922	RASA2	ORPHA:648
HP:0030084	Clinodactyly	23522	KAT6B	ORPHA:3047
HP:0030084	Clinodactyly	6913	TBX15	OMIM:260660
HP:0030084	Clinodactyly	79023	NUP37	OMIM:618179
HP:0030084	Clinodactyly	375056	MIA3	OMIM:619269
HP:0030084	Clinodactyly	27161	AGO2	OMIM:619149
HP:0030084	Clinodactyly	5567	PRKACB	OMIM:619143
HP:0030084	Clinodactyly	221927	BRAT1	OMIM:618056
HP:0030084	Clinodactyly	8823	FGF16	OMIM:309630
HP:0030084	Clinodactyly	5518	PPP2R1A	ORPHA:457284
HP:0030084	Clinodactyly	161742	SPRED1	ORPHA:137605
HP:0030084	Clinodactyly	7337	UBE3A	ORPHA:238446
HP:0030084	Clinodactyly	58499	ZNF462	ORPHA:502430
HP:0030084	Clinodactyly	58499	ZNF462	OMIM:618619
HP:0030084	Clinodactyly	1832	DSP	ORPHA:158687
HP:0030084	Clinodactyly	1832	DSP	OMIM:609638
HP:0030084	Clinodactyly	3728	JUP	ORPHA:158687
HP:0030084	Clinodactyly	23241	PACS2	OMIM:618067
HP:0030084	Clinodactyly	26128	KIFBP	OMIM:609460
HP:0030084	Clinodactyly	23556	PIGN	ORPHA:2059
HP:0030084	Clinodactyly	5885	RAD21	OMIM:614701
HP:0030084	Clinodactyly	5885	RAD21	ORPHA:199
HP:0030084	Clinodactyly	3209	HOXA13	OMIM:140000
HP:0030084	Clinodactyly	3209	HOXA13	ORPHA:2438
HP:0030084	Clinodactyly	8854	ALDH1A2	OMIM:620025
HP:0030084	Clinodactyly	10274	STAG1	ORPHA:502434
HP:0030084	Clinodactyly	3239	HOXD13	OMIM:186000
HP:0030084	Clinodactyly	3239	HOXD13	ORPHA:93406
HP:0030084	Clinodactyly	613	BCR	ORPHA:261330
HP:0030084	Clinodactyly	1399	CRKL	ORPHA:261330
HP:0030084	Clinodactyly	89910	UBE3B	OMIM:244450
HP:0030084	Clinodactyly	2314	FLII	ORPHA:819
HP:0030084	Clinodactyly	23096	IQSEC2	ORPHA:819
HP:0030084	Clinodactyly	10743	RAI1	ORPHA:819
HP:0030084	Clinodactyly	10743	RAI1	OMIM:182290
HP:0030084	Clinodactyly	10522	DEAF1	ORPHA:819
HP:0030084	Clinodactyly	7175	TPR	OMIM:620393
HP:0030084	Clinodactyly	6595	SMARCA2	OMIM:619293
HP:0030084	Clinodactyly	10459	MAD2L2	ORPHA:84
HP:0030084	Clinodactyly	7516	XRCC2	ORPHA:84
HP:0030084	Clinodactyly	29089	UBE2T	ORPHA:84
HP:0030084	Clinodactyly	675	BRCA2	ORPHA:84
HP:0030084	Clinodactyly	55120	FANCL	ORPHA:84
HP:0030084	Clinodactyly	2177	FANCD2	ORPHA:84
HP:0030084	Clinodactyly	2175	FANCA	ORPHA:84
HP:0030084	Clinodactyly	2187	FANCB	ORPHA:84
HP:0030084	Clinodactyly	2176	FANCC	ORPHA:84
HP:0030084	Clinodactyly	2178	FANCE	ORPHA:84
HP:0030084	Clinodactyly	2188	FANCF	ORPHA:84
HP:0030084	Clinodactyly	2189	FANCG	ORPHA:84
HP:0030084	Clinodactyly	5888	RAD51	ORPHA:84
HP:0030084	Clinodactyly	5889	RAD51C	ORPHA:84
HP:0030084	Clinodactyly	55159	RFWD3	ORPHA:84
HP:0030084	Clinodactyly	83990	BRIP1	ORPHA:84
HP:0030084	Clinodactyly	57697	FANCM	ORPHA:84
HP:0030084	Clinodactyly	79728	PALB2	ORPHA:84
HP:0030084	Clinodactyly	84464	SLX4	ORPHA:84
HP:0030084	Clinodactyly	2072	ERCC4	ORPHA:84
HP:0030084	Clinodactyly	55215	FANCI	ORPHA:84
HP:0030084	Clinodactyly	84823	LMNB2	OMIM:619180
HP:0030084	Clinodactyly	9184	BUB3	ORPHA:1052
HP:0030084	Clinodactyly	699	BUB1	ORPHA:1052
HP:0030084	Clinodactyly	699	BUB1	OMIM:620183
HP:0030084	Clinodactyly	9319	TRIP13	ORPHA:1052
HP:0030084	Clinodactyly	701	BUB1B	ORPHA:1052
HP:0030084	Clinodactyly	54476	RNF216	ORPHA:1173
HP:0030084	Clinodactyly	10908	PNPLA6	ORPHA:1173
HP:0030084	Clinodactyly	23036	ZNF292	OMIM:619188
HP:0030084	Clinodactyly	51199	NIN	OMIM:614851
HP:0030084	Clinodactyly	51199	NIN	ORPHA:319675
HP:0030084	Clinodactyly	79813	EHMT1	OMIM:610253
HP:0030084	Clinodactyly	4953	ODC1	OMIM:619075
HP:0030084	Clinodactyly	4953	ODC1	ORPHA:544488
HP:0030084	Clinodactyly	2535	FZD2	ORPHA:3107
HP:0030084	Clinodactyly	2535	FZD2	OMIM:164745
HP:0030084	Clinodactyly	26053	AUTS2	OMIM:615834
HP:0030084	Clinodactyly	6804	STX1A	ORPHA:904
HP:0030084	Clinodactyly	7461	CLIP2	ORPHA:904
HP:0030084	Clinodactyly	84277	DNAJC30	ORPHA:904
HP:0030084	Clinodactyly	8468	FKBP6	ORPHA:904
HP:0030084	Clinodactyly	5982	RFC2	ORPHA:904
HP:0030084	Clinodactyly	2969	GTF2I	ORPHA:904
HP:0030084	Clinodactyly	3984	LIMK1	ORPHA:904
HP:0030084	Clinodactyly	9569	GTF2IRD1	ORPHA:904
HP:0030084	Clinodactyly	155382	VPS37D	ORPHA:904
HP:0030084	Clinodactyly	155368	METTL27	ORPHA:904
HP:0030084	Clinodactyly	114049	BUD23	ORPHA:904
HP:0030084	Clinodactyly	7458	EIF4H	ORPHA:904
HP:0030084	Clinodactyly	84163	GTF2IRD2	ORPHA:904
HP:0030084	Clinodactyly	26608	TBL2	ORPHA:904
HP:0030084	Clinodactyly	653361	NCF1	ORPHA:904
HP:0030084	Clinodactyly	135886	TMEM270	ORPHA:904
HP:0030084	Clinodactyly	9031	BAZ1B	ORPHA:904
HP:0030084	Clinodactyly	2006	ELN	ORPHA:904
HP:0030084	Clinodactyly	2006	ELN	OMIM:194050
HP:0030084	Clinodactyly	2122	MECOM	ORPHA:71289
HP:0030084	Clinodactyly	3207	HOXA11	ORPHA:71289
HP:0030084	Clinodactyly	3207	HOXA11	OMIM:605432
HP:0030084	Clinodactyly	81031	SLC2A10	ORPHA:3342
HP:0030084	Clinodactyly	55165	CEP55	OMIM:236500
HP:0030084	Clinodactyly	4094	MAF	ORPHA:1272
HP:0030084	Clinodactyly	6628	SNRPB	ORPHA:1393
HP:0030084	Clinodactyly	6628	SNRPB	OMIM:117650
HP:0030084	Clinodactyly	4089	SMAD4	OMIM:139210
HP:0030084	Clinodactyly	1028	CDKN1C	ORPHA:397590
HP:0030084	Clinodactyly	5324	PLAG1	ORPHA:397590
HP:0030084	Clinodactyly	9555	MACROH2A1	ORPHA:1275
HP:0030084	Clinodactyly	5307	PITX1	ORPHA:1275
HP:0030084	Clinodactyly	5422	POLA1	ORPHA:163976
HP:0030084	Clinodactyly	5422	POLA1	OMIM:301030
HP:0030084	Clinodactyly	55906	ZC4H2	ORPHA:3454
HP:0030084	Clinodactyly	51085	MLXIPL	OMIM:194050
HP:0030084	Clinodactyly	10430	TMEM147	OMIM:620075
HP:0030084	Clinodactyly	3187	HNRNPH1	OMIM:620083
HP:0030084	Clinodactyly	1482	NKX2-5	OMIM:187500
HP:0030084	Clinodactyly	1482	NKX2-5	ORPHA:3303
HP:0030084	Clinodactyly	6899	TBX1	OMIM:187500
HP:0030084	Clinodactyly	6899	TBX1	ORPHA:3303
HP:0030084	Clinodactyly	2626	GATA4	OMIM:187500
HP:0030084	Clinodactyly	2626	GATA4	ORPHA:3303
HP:0030084	Clinodactyly	23414	ZFPM2	OMIM:187500
HP:0030084	Clinodactyly	23414	ZFPM2	ORPHA:3303
HP:0030084	Clinodactyly	182	JAG1	OMIM:187500
HP:0030084	Clinodactyly	182	JAG1	ORPHA:3303
HP:0030084	Clinodactyly	2627	GATA6	OMIM:187500
HP:0030084	Clinodactyly	2627	GATA6	ORPHA:3303
HP:0030084	Clinodactyly	545	ATR	ORPHA:808
HP:0030084	Clinodactyly	545	ATR	OMIM:210600
HP:0030084	Clinodactyly	1062	CENPE	ORPHA:808
HP:0030084	Clinodactyly	5116	PCNT	ORPHA:808
HP:0030084	Clinodactyly	5116	PCNT	OMIM:210720
HP:0030084	Clinodactyly	5116	PCNT	ORPHA:2637
HP:0030084	Clinodactyly	79902	NUP85	ORPHA:808
HP:0030084	Clinodactyly	84126	ATRIP	ORPHA:808
HP:0030084	Clinodactyly	10293	TRAIP	ORPHA:808
HP:0030084	Clinodactyly	1763	DNA2	ORPHA:808
HP:0030084	Clinodactyly	10733	PLK4	ORPHA:808
HP:0030084	Clinodactyly	9939	RBM8A	ORPHA:3320
HP:0030084	Clinodactyly	9939	RBM8A	OMIM:274000
HP:0030084	Clinodactyly	55023	PHIP	ORPHA:589905
HP:0030084	Clinodactyly	55023	PHIP	OMIM:617991
HP:0030084	Clinodactyly	8626	TP63	ORPHA:69085
HP:0030084	Clinodactyly	9775	EIF4A3	OMIM:268305
HP:0030084	Clinodactyly	2703	GJA8	OMIM:612474
HP:0030084	Clinodactyly	2702	GJA5	OMIM:612474
HP:0030084	Clinodactyly	2702	GJA5	ORPHA:3303
HP:0030084	Clinodactyly	3897	L1CAM	ORPHA:2466
HP:0030084	Clinodactyly	4208	MEF2C	OMIM:613443
HP:0030084	Clinodactyly	129880	BBS5	OMIM:615983
HP:0030084	Clinodactyly	55690	PACS1	ORPHA:329224
HP:0030084	Clinodactyly	2245	FGD1	ORPHA:915
HP:0030084	Clinodactyly	2245	FGD1	OMIM:305400
HP:0030084	Clinodactyly	9230	RAB11B	OMIM:617807
HP:0030084	Clinodactyly	84181	CHD6	ORPHA:2108
HP:0030084	Clinodactyly	51621	KLF13	OMIM:612001
HP:0030084	Clinodactyly	5648	MASP1	OMIM:257920
HP:0030084	Clinodactyly	23394	ADNP	OMIM:615873
HP:0030084	Clinodactyly	9759	HDAC4	ORPHA:1001
HP:0030084	Clinodactyly	11133	KPTN	OMIM:615637
HP:0030084	Clinodactyly	11133	KPTN	ORPHA:397612
HP:0030084	Clinodactyly	85358	SHANK3	OMIM:606232
HP:0030084	Clinodactyly	23028	KDM1A	OMIM:616728
HP:0030084	Clinodactyly	23028	KDM1A	ORPHA:477993
HP:0030084	Clinodactyly	137814	NKX2-6	ORPHA:3303
HP:0030084	Clinodactyly	3791	KDR	ORPHA:3303
HP:0030084	Clinodactyly	2657	GDF1	ORPHA:3303
HP:0030084	Clinodactyly	140628	GATA5	ORPHA:3303
HP:0030084	Clinodactyly	2324	FLT4	ORPHA:3303
HP:0030084	Clinodactyly	10370	CITED2	ORPHA:3303
HP:0030084	Clinodactyly	2334	AFF2	ORPHA:100973
HP:0030084	Clinodactyly	83479	DDX59	OMIM:174300
HP:0030084	Clinodactyly	10982	MAPRE2	OMIM:616734
HP:0030084	Clinodactyly	54808	DYM	OMIM:223800
HP:0030084	Clinodactyly	84679	SLC9A7	OMIM:301024
HP:0030084	Clinodactyly	10735	STAG2	OMIM:301022
HP:0030084	Clinodactyly	10265	IRX5	OMIM:611174
HP:0030084	Clinodactyly	5925	RB1	ORPHA:1587
HP:0030084	Clinodactyly	7874	USP7	OMIM:616863
HP:0030084	Clinodactyly	81620	CDT1	ORPHA:2554
HP:0030084	Clinodactyly	5000	ORC4	ORPHA:2554
HP:0030084	Clinodactyly	23594	ORC6	ORPHA:2554
HP:0030084	Clinodactyly	8318	CDC45	ORPHA:2554
HP:0030084	Clinodactyly	51053	GMNN	ORPHA:2554
HP:0030084	Clinodactyly	64093	SMOC1	ORPHA:1106
HP:0030084	Clinodactyly	25	ABL1	OMIM:617602
HP:0030084	Clinodactyly	83696	TRAPPC9	ORPHA:352530
HP:0030084	Clinodactyly	860	RUNX2	ORPHA:1452
HP:0030084	Clinodactyly	29980	DONSON	OMIM:617604
HP:0030084	Clinodactyly	6878	TAF6	ORPHA:199
HP:0030084	Clinodactyly	10664	CTCF	ORPHA:363611
HP:0030084	Clinodactyly	157680	VPS13B	ORPHA:193
HP:0030084	Clinodactyly	22931	RAB18	OMIM:614222
HP:0030084	Clinodactyly	80232	WDR26	OMIM:617616
HP:0030084	Clinodactyly	8405	SPOP	OMIM:618828
HP:0030084	Clinodactyly	8405	SPOP	OMIM:618829
HP:0030084	Clinodactyly	284252	KCTD1	OMIM:181270
HP:0030084	Clinodactyly	54870	QRICH1	OMIM:617982
HP:0030084	Clinodactyly	139285	AMER1	OMIM:300373
HP:0030084	Clinodactyly	4841	NONO	ORPHA:466791
HP:0030084	Clinodactyly	1663	DDX11	OMIM:613398
HP:0030084	Clinodactyly	51317	PHF21A	OMIM:618725
HP:0030084	Clinodactyly	2186	BPTF	OMIM:617755
HP:0030084	Clinodactyly	4848	CNOT2	OMIM:618608
HP:0030084	Clinodactyly	124583	CANT1	ORPHA:1425
HP:0030084	Clinodactyly	55790	CSGALNACT1	ORPHA:1425
HP:0030084	Clinodactyly	4204	MECP2	OMIM:300260
HP:0030084	Clinodactyly	55553	SOX6	OMIM:618971
HP:0030084	Clinodactyly	84148	KAT8	OMIM:618974
HP:0030084	Clinodactyly	4882	NPR2	OMIM:615923
HP:0030084	Clinodactyly	92482	BBIP1	ORPHA:110
HP:0030084	Clinodactyly	80184	CEP290	ORPHA:110
HP:0030084	Clinodactyly	11020	IFT27	ORPHA:110
HP:0030084	Clinodactyly	582	BBS1	ORPHA:110
HP:0030084	Clinodactyly	49855	SCAPER	ORPHA:110
HP:0030084	Clinodactyly	4867	NPHP1	ORPHA:110
HP:0030084	Clinodactyly	51057	WDPCP	ORPHA:110
HP:0030084	Clinodactyly	132320	SCLT1	ORPHA:110
HP:0030084	Clinodactyly	27241	BBS9	ORPHA:110
HP:0030084	Clinodactyly	84984	CEP19	ORPHA:110
HP:0030084	Clinodactyly	22954	TRIM32	ORPHA:110
HP:0030084	Clinodactyly	79738	BBS10	ORPHA:110
HP:0030084	Clinodactyly	123016	TTC8	ORPHA:110
HP:0030084	Clinodactyly	26160	IFT172	ORPHA:110
HP:0030084	Clinodactyly	583	BBS2	ORPHA:110
HP:0030084	Clinodactyly	585	BBS4	ORPHA:110
HP:0030084	Clinodactyly	8195	MKKS	ORPHA:110
HP:0030084	Clinodactyly	54585	LZTFL1	ORPHA:110
HP:0030084	Clinodactyly	166379	BBS12	ORPHA:110
HP:0030084	Clinodactyly	10806	SDCCAG8	ORPHA:110
HP:0030084	Clinodactyly	157657	CFAP418	ORPHA:110
HP:0030084	Clinodactyly	84100	ARL6	ORPHA:110
HP:0030084	Clinodactyly	80173	IFT74	ORPHA:110
HP:0030084	Clinodactyly	10236	HNRNPR	OMIM:620073
HP:0030084	Clinodactyly	8243	SMC1A	OMIM:300590
HP:0030084	Clinodactyly	8243	SMC1A	OMIM:301044
HP:0030084	Clinodactyly	10617	STAMBP	OMIM:614261
HP:0030084	Clinodactyly	10262	SF3B4	OMIM:154400
HP:0030084	Clinodactyly	83932	SPRTN	OMIM:616200
HP:0030084	Clinodactyly	10973	ASCC3	OMIM:620700
HP:0030084	Clinodactyly	57539	WDR35	OMIM:613610
HP:0030084	Clinodactyly	5447	POR	ORPHA:95699
HP:0030084	Clinodactyly	4784	NFIX	ORPHA:447980
HP:0030084	Clinodactyly	2316	FLNA	OMIM:300244
HP:0030084	Clinodactyly	2316	FLNA	ORPHA:88630
HP:0030084	Clinodactyly	2316	FLNA	OMIM:300049
HP:0030084	Clinodactyly	65267	WNK3	OMIM:309610
HP:0030084	Clinodactyly	1855	DVL1	OMIM:616331
HP:0030084	Clinodactyly	1855	DVL1	OMIM:180700
HP:0030084	Clinodactyly	4552	MTRR	ORPHA:2169
HP:0030084	Clinodactyly	10847	SRCAP	ORPHA:2044
HP:0030084	Clinodactyly	26012	NSMF	OMIM:614838
HP:0030084	Clinodactyly	55780	ERMARD	ORPHA:75857
HP:0030084	Clinodactyly	10225	CD96	OMIM:211750
HP:0030084	Clinodactyly	57231	SNX14	ORPHA:397709
HP:0030084	Clinodactyly	57231	SNX14	OMIM:616354
HP:0030084	Clinodactyly	10559	SLC35A1	OMIM:603585
HP:0030084	Clinodactyly	56992	KIF15	ORPHA:261323
HP:0030084	Clinodactyly	56992	KIF15	OMIM:619981
HP:0030084	Clinodactyly	84992	PIGY	ORPHA:247262
HP:0030084	Clinodactyly	84720	PIGO	ORPHA:247262
HP:0030084	Clinodactyly	93210	PGAP3	ORPHA:247262
HP:0030084	Clinodactyly	284098	PIGW	ORPHA:247262
HP:0030084	Clinodactyly	27315	PGAP2	ORPHA:247262
HP:0030084	Clinodactyly	55650	PIGV	ORPHA:247262
HP:0030084	Clinodactyly	9487	PIGL	ORPHA:247262
HP:0030084	Clinodactyly	9487	PIGL	OMIM:280000
HP:0030084	Clinodactyly	10584	COLEC10	OMIM:248340
HP:0030084	Clinodactyly	9241	NOG	OMIM:186570
HP:0030084	Clinodactyly	9698	PUM1	OMIM:620719
HP:0030084	Clinodactyly	9698	PUM1	OMIM:617931
HP:0030084	Clinodactyly	8913	CACNA1G	OMIM:618087
HP:0030084	Clinodactyly	80204	FBXO11	OMIM:618089
HP:0030084	Clinodactyly	64359	NXN	OMIM:618529
HP:0030084	Clinodactyly	92579	G6PC3	OMIM:612541
HP:0030084	Clinodactyly	81857	MED25	ORPHA:464738
HP:0030084	Clinodactyly	2697	GJA1	ORPHA:2710
HP:0030084	Clinodactyly	2697	GJA1	OMIM:164200
HP:0030084	Clinodactyly	59341	TRPV4	OMIM:113500
HP:0030084	Clinodactyly	59341	TRPV4	OMIM:181405
HP:0030084	Clinodactyly	4297	KMT2A	ORPHA:319182
HP:0030084	Clinodactyly	93627	TBCK	ORPHA:488632
HP:0030084	Clinodactyly	200734	SPRED2	OMIM:619745
HP:0030084	Clinodactyly	3782	KCNN3	OMIM:618658
HP:0030084	Clinodactyly	25942	SIN3A	OMIM:613406
HP:0030084	Clinodactyly	25942	SIN3A	ORPHA:94065
HP:0030084	Clinodactyly	25942	SIN3A	ORPHA:500166
HP:0030084	Clinodactyly	8642	DCHS1	OMIM:601390
HP:0030084	Clinodactyly	374654	KIF7	OMIM:607131
HP:0030084	Clinodactyly	374654	KIF7	ORPHA:166024
HP:0030084	Clinodactyly	26227	PHGDH	OMIM:256520
HP:0030084	Clinodactyly	8241	RBM10	OMIM:311900
HP:0030084	Clinodactyly	8241	RBM10	ORPHA:2886
HP:0030084	Clinodactyly	1798	DPAGT1	ORPHA:86309
HP:0030084	Clinodactyly	1280	COL2A1	OMIM:184250
HP:0030084	Clinodactyly	1280	COL2A1	ORPHA:93315
HP:0030084	Clinodactyly	54880	BCOR	OMIM:309800
HP:0030084	Clinodactyly	8260	NAA10	OMIM:309800
HP:0030084	Clinodactyly	23512	SUZ12	OMIM:618786
HP:0030084	Clinodactyly	3590	IL11RA	OMIM:614188
HP:0030084	Clinodactyly	23126	POGZ	OMIM:616364
HP:0030084	Clinodactyly	8558	CDK10	OMIM:617694
HP:0030084	Clinodactyly	4000	LMNA	OMIM:610140
HP:0030084	Clinodactyly	6660	SOX5	OMIM:616803
HP:0030084	Clinodactyly	11128	POLR3A	OMIM:264090
HP:0030084	Clinodactyly	8085	KMT2D	OMIM:620186
HP:0030084	Clinodactyly	23137	SMC5	OMIM:620185
HP:0030084	Clinodactyly	79759	ZNF668	OMIM:620194
HP:0030084	Clinodactyly	27086	FOXP1	ORPHA:391372
HP:0030084	Clinodactyly	5594	MAPK1	OMIM:619087
HP:0030084	Clinodactyly	56098	PCDHGC4	OMIM:619880
HP:0030084	Clinodactyly	1654	DDX3X	ORPHA:3338
HP:0030084	Clinodactyly	8481	OFD1	OMIM:311200
HP:0030084	Clinodactyly	7140	TNNT3	OMIM:618435
HP:0030084	Clinodactyly	2263	FGFR2	ORPHA:2363
HP:0030084	Clinodactyly	2261	FGFR3	ORPHA:2363
HP:0030084	Clinodactyly	2261	FGFR3	OMIM:602849
HP:0030084	Clinodactyly	2255	FGF10	ORPHA:2363
HP:0030084	Clinodactyly	9968	MED12	OMIM:305450
HP:0030084	Clinodactyly	9968	MED12	OMIM:300895
HP:0030084	Clinodactyly	6925	TCF4	OMIM:610954
HP:0030084	Clinodactyly	1749	DLX5	OMIM:183600
HP:0030084	Clinodactyly	90	ACVR1	ORPHA:337
HP:0030084	Clinodactyly	4920	ROR2	OMIM:268310
HP:0030084	Clinodactyly	5295	PIK3R1	OMIM:269880
HP:0030084	Clinodactyly	4677	NARS1	OMIM:619091
HP:0030084	Clinodactyly	4677	NARS1	OMIM:619092
HP:0030084	Clinodactyly	546	ATRX	OMIM:309580
HP:0030084	Clinodactyly	546	ATRX	OMIM:301040
HP:0030084	Clinodactyly	25836	NIPBL	OMIM:122470
HP:0030084	Clinodactyly	2146	EZH2	OMIM:277590
HP:0030084	Clinodactyly	85459	CEP295	OMIM:620767
HP:0030084	Clinodactyly	22856	CHSY1	OMIM:605282
HP:0030084	Clinodactyly	9896	FIG4	OMIM:216340
HP:0030084	Clinodactyly	157570	ESCO2	OMIM:268300
HP:0030084	Clinodactyly	10195	ALG3	OMIM:601110
HP:0030084	Clinodactyly	257	ALX3	OMIM:136760
HP:0030084	Clinodactyly	4883	NPR3	OMIM:619543
HP:0030084	Clinodactyly	54903	MKS1	OMIM:249000
HP:0030084	Clinodactyly	8621	CDK13	OMIM:617360
HP:0030084	Clinodactyly	5881	RAC3	OMIM:618577
HP:0030084	Clinodactyly	55212	BBS7	OMIM:615984
HP:0030084	Clinodactyly	7227	TRPS1	OMIM:190350
HP:0030084	Clinodactyly	5426	POLE	OMIM:618336
HP:0030084	Clinodactyly	9894	TELO2	OMIM:616954
HP:0030084	Clinodactyly	9894	TELO2	ORPHA:488642
HP:0030084	Clinodactyly	6664	SOX11	OMIM:615866
HP:0030084	Clinodactyly	6664	SOX11	ORPHA:1465
HP:0030084	Clinodactyly	196528	ARID2	OMIM:617808
HP:0030084	Clinodactyly	196528	ARID2	ORPHA:1465
HP:0030084	Clinodactyly	27152	INTU	OMIM:617926
HP:0030084	Clinodactyly	26123	TCTN3	OMIM:258860
HP:0030084	Clinodactyly	10075	HUWE1	OMIM:309590
HP:0030084	Clinodactyly	3480	IGF1R	ORPHA:73273
HP:0030084	Clinodactyly	3480	IGF1R	OMIM:270450
HP:0030084	Clinodactyly	3479	IGF1	ORPHA:73272
HP:0030084	Clinodactyly	388015	RTL1	ORPHA:254531
HP:0030084	Clinodactyly	388015	RTL1	ORPHA:254525
HP:0030084	Clinodactyly	388015	RTL1	ORPHA:96184
HP:0030084	Clinodactyly	8788	DLK1	ORPHA:254531
HP:0030084	Clinodactyly	8788	DLK1	ORPHA:254525
HP:0030084	Clinodactyly	8788	DLK1	ORPHA:96184
HP:0030084	Clinodactyly	55384	MEG3	ORPHA:254531
HP:0030084	Clinodactyly	55384	MEG3	ORPHA:254525
HP:0030084	Clinodactyly	55384	MEG3	ORPHA:96184
HP:0030084	Clinodactyly	23111	SPART	OMIM:275900
HP:0030084	Clinodactyly	23111	SPART	ORPHA:101000
HP:0030084	Clinodactyly	5898	RALA	OMIM:619311
HP:0030084	Clinodactyly	54892	NCAPG2	OMIM:618460
HP:0030084	Clinodactyly	8473	OGT	OMIM:300997
HP:0030084	Clinodactyly	2335	FN1	ORPHA:93315
HP:0030084	Clinodactyly	2260	FGFR1	OMIM:147950
HP:0030084	Clinodactyly	57122	NUP107	OMIM:618348
HP:0030084	Clinodactyly	57122	NUP107	OMIM:616730
HP:0030084	Clinodactyly	56623	INPP5E	OMIM:213300
HP:0030084	Clinodactyly	253738	EBF3	ORPHA:96148
HP:0030084	Clinodactyly	23363	OBSL1	OMIM:612921
HP:0030084	Clinodactyly	100033413	SNORD116-1	OMIM:176270
HP:0030084	Clinodactyly	8924	HERC2	OMIM:176270
HP:0030084	Clinodactyly	23742	NPAP1	OMIM:176270
HP:0030084	Clinodactyly	338433	SNORD115-1	OMIM:176270
HP:0030084	Clinodactyly	54551	MAGEL2	OMIM:176270
HP:0030084	Clinodactyly	54551	MAGEL2	OMIM:615547
HP:0030084	Clinodactyly	7681	MKRN3	OMIM:176270
HP:0030084	Clinodactyly	145624	PWAR1	OMIM:176270
HP:0030084	Clinodactyly	3653	IPW	OMIM:176270
HP:0030084	Clinodactyly	791114	PWRN1	OMIM:176270
HP:0030084	Clinodactyly	5745	PTH1R	OMIM:600002
HP:0030084	Clinodactyly	55315	SLC29A3	OMIM:602782
HP:0030084	Clinodactyly	84162	BLTP1	OMIM:617822
HP:0030084	Clinodactyly	998	CDC42	OMIM:616737
HP:0030084	Clinodactyly	998	CDC42	ORPHA:487796
HP:0030084	Clinodactyly	157922	CAMSAP1	OMIM:620316
HP:0030084	Clinodactyly	999	CDH1	OMIM:119580
HP:0030084	Clinodactyly	5053	PAH	ORPHA:2209
HP:0030084	Clinodactyly	4131	MAP1B	OMIM:618918
HP:0030084	Clinodactyly	2239	GPC4	OMIM:301026
HP:0030084	Clinodactyly	56915	EXOSC5	OMIM:619576
HP:0030084	Clinodactyly	7476	WNT7A	OMIM:228930
HP:0030084	Clinodactyly	23511	NUP188	OMIM:618804
HP:0030084	Clinodactyly	6597	SMARCA4	ORPHA:1465
HP:0030084	Clinodactyly	6598	SMARCB1	ORPHA:1465
HP:0030084	Clinodactyly	6659	SOX4	ORPHA:1465
HP:0030084	Clinodactyly	8289	ARID1A	ORPHA:1465
HP:0030084	Clinodactyly	5977	DPF2	ORPHA:1465
HP:0030084	Clinodactyly	6601	SMARCC2	ORPHA:1465
HP:0030084	Clinodactyly	6602	SMARCD1	ORPHA:1465
HP:0030084	Clinodactyly	57492	ARID1B	ORPHA:1465
HP:0030084	Clinodactyly	6605	SMARCE1	ORPHA:1465
HP:0030084	Clinodactyly	23389	MED13L	ORPHA:369891
HP:0030084	Clinodactyly	23389	MED13L	OMIM:616789
HP:0030084	Clinodactyly	5077	PAX3	OMIM:148820
HP:0030084	Clinodactyly	55764	IFT122	OMIM:218330
HP:0030084	Clinodactyly	7703	PCGF2	OMIM:618371
HP:0030084	Clinodactyly	79633	FAT4	OMIM:615546
HP:0030084	Clinodactyly	6638	SNRPN	ORPHA:177907
HP:0030084	Clinodactyly	990	CDC6	OMIM:613805
HP:0030084	Clinodactyly	65250	CPLANE1	OMIM:277170
HP:0030084	Clinodactyly	63895	PIEZO2	OMIM:108145
HP:0030084	Clinodactyly	2887	GRB10	ORPHA:96182
HP:0030084	Clinodactyly	55617	TASP1	OMIM:618950
HP:0030084	Clinodactyly	1857	DVL3	OMIM:616894
HP:0030084	Clinodactyly	5075	PAX1	OMIM:615560
HP:0030084	Clinodactyly	83737	ITCH	OMIM:613385
HP:0030084	Clinodactyly	83737	ITCH	ORPHA:228426
HP:0030084	Clinodactyly	9702	CEP57	OMIM:614114
HP:0030084	Clinodactyly	23529	CLCF1	OMIM:610313
HP:0030084	Clinodactyly	93587	TRMT10A	ORPHA:391408
HP:0030084	Clinodactyly	84919	PPP1R15B	ORPHA:391408
HP:0030084	Clinodactyly	6748	SSR4	OMIM:300934
HP:0030084	Clinodactyly	51371	POMP	OMIM:618048
HP:0030084	Clinodactyly	9320	TRIP12	OMIM:617752
HP:0030084	Clinodactyly	7518	XRCC4	OMIM:616541
HP:0030084	Clinodactyly	84231	TRAF7	OMIM:618164
HP:0030084	Clinodactyly	8242	KDM5C	ORPHA:85279
HP:0030084	Clinodactyly	387	RHOA	OMIM:618727
HP:0030084	Clinodactyly	11043	MID2	OMIM:300928
HP:0030084	Clinodactyly	64131	XYLT1	ORPHA:370930
HP:0030084	Clinodactyly	7474	WNT5A	OMIM:180700
HP:0030084	Clinodactyly	5286	PIK3C2A	ORPHA:557003
HP:0030084	Clinodactyly	23309	SIN3B	ORPHA:500166
HP:0030084	Clinodactyly	672	BRCA1	OMIM:617883
HP:0030084	Clinodactyly	22827	PUF60	OMIM:615583
HP:0030084	Clinodactyly	7543	ZFX	OMIM:301118
HP:0030084	Clinodactyly	4654	MYOD1	OMIM:618975
HP:0030084	Clinodactyly	25886	POC1A	OMIM:614813
HP:0030084	Clinodactyly	9898	UBAP2L	OMIM:620494
HP:0030084	Clinodactyly	673	BRAF	OMIM:163950
HP:0030084	Clinodactyly	5604	MAP2K1	OMIM:163950
HP:0030084	Clinodactyly	5781	PTPN11	OMIM:163950
HP:0030084	Clinodactyly	55249	YY1AP1	OMIM:602531
HP:0030084	Clinodactyly	10466	COG5	ORPHA:263487
HP:0030084	Clinodactyly	8092	ALX1	ORPHA:306542
HP:0030084	Clinodactyly	6885	MAP3K7	OMIM:617137
HP:0030084	Clinodactyly	29123	ANKRD11	ORPHA:2332
HP:0030084	Clinodactyly	150468	CKAP2L	OMIM:272440
HP:0030084	Clinodactyly	4750	NEK1	ORPHA:2751
HP:0030084	Clinodactyly	79583	TMEM231	ORPHA:2754
HP:0030084	Clinodactyly	10210	TOPORS	ORPHA:2754
HP:0030084	Clinodactyly	9851	KIAA0753	ORPHA:2754
HP:0030084	Clinodactyly	5147	PDE6D	ORPHA:2754
HP:0030084	Clinodactyly	51259	TMEM216	ORPHA:2754
HP:0030084	Clinodactyly	317662	FAM149B1	ORPHA:2754
HP:0030084	Clinodactyly	6910	TBX5	OMIM:142900
HP:0030084	Clinodactyly	8200	GDF5	ORPHA:3250
HP:0030084	Clinodactyly	84342	COG8	OMIM:611182
HP:0030084	Clinodactyly	2036	EPB41L1	OMIM:614257
HP:0030084	Clinodactyly	55784	MCTP2	ORPHA:1596
HP:0030084	Clinodactyly	1747	DLX3	ORPHA:3352
HP:0030084	Clinodactyly	1974	EIF4A2	OMIM:620455
HP:0030084	Clinodactyly	26834	RNU4-2	OMIM:620851
HP:0030084	Clinodactyly	7403	KDM6A	OMIM:147920
HP:0030084	Clinodactyly	5293	PIK3CD	ORPHA:221139
HP:0030084	Clinodactyly	90417	KNSTRN	ORPHA:221139
HP:0030084	Clinodactyly	93986	FOXP2	ORPHA:251061
HP:0030084	Clinodactyly	55027	HEATR3	OMIM:620072
HP:0030084	Clinodactyly	91461	PKDCC	OMIM:618821
HP:0030084	Clinodactyly	3767	KCNJ11	ORPHA:79134
HP:0030084	Clinodactyly	79731	NARS2	ORPHA:79134
HP:0030084	Clinodactyly	6833	ABCC8	ORPHA:79134
HP:0030085	Abnormal CSF lactate concentration	9131	AIFM1	ORPHA:238329
HP:0030085	Abnormal CSF lactate concentration	9131	AIFM1	OMIM:300816
HP:0030085	Abnormal CSF lactate concentration	4702	NDUFA8	OMIM:619272
HP:0030085	Abnormal CSF lactate concentration	10128	LRPPRC	OMIM:220111
HP:0030085	Abnormal CSF lactate concentration	10128	LRPPRC	ORPHA:70472
HP:0030085	Abnormal CSF lactate concentration	4558	MT-TF	ORPHA:550
HP:0030085	Abnormal CSF lactate concentration	4572	MT-TQ	ORPHA:550
HP:0030085	Abnormal CSF lactate concentration	4512	MT-CO1	ORPHA:550
HP:0030085	Abnormal CSF lactate concentration	4513	MT-CO2	ORPHA:550
HP:0030085	Abnormal CSF lactate concentration	4514	MT-CO3	ORPHA:550
HP:0030085	Abnormal CSF lactate concentration	4578	MT-TW	ORPHA:550
HP:0030085	Abnormal CSF lactate concentration	4578	MT-TW	ORPHA:255210
HP:0030085	Abnormal CSF lactate concentration	4540	MT-ND5	ORPHA:550
HP:0030085	Abnormal CSF lactate concentration	4540	MT-ND5	ORPHA:255210
HP:0030085	Abnormal CSF lactate concentration	4541	MT-ND6	ORPHA:550
HP:0030085	Abnormal CSF lactate concentration	4541	MT-ND6	ORPHA:255210
HP:0030085	Abnormal CSF lactate concentration	4535	MT-ND1	ORPHA:550
HP:0030085	Abnormal CSF lactate concentration	4535	MT-ND1	ORPHA:2609
HP:0030085	Abnormal CSF lactate concentration	4535	MT-ND1	ORPHA:255210
HP:0030085	Abnormal CSF lactate concentration	4538	MT-ND4	ORPHA:550
HP:0030085	Abnormal CSF lactate concentration	4538	MT-ND4	ORPHA:255210
HP:0030085	Abnormal CSF lactate concentration	4567	MT-TL1	ORPHA:550
HP:0030085	Abnormal CSF lactate concentration	4567	MT-TL1	ORPHA:255210
HP:0030085	Abnormal CSF lactate concentration	4567	MT-TL1	ORPHA:324525
HP:0030085	Abnormal CSF lactate concentration	4574	MT-TS1	ORPHA:550
HP:0030085	Abnormal CSF lactate concentration	4574	MT-TS1	OMIM:220110
HP:0030085	Abnormal CSF lactate concentration	4575	MT-TS2	ORPHA:550
HP:0030085	Abnormal CSF lactate concentration	4564	MT-TH	ORPHA:550
HP:0030085	Abnormal CSF lactate concentration	54539	NDUFB11	ORPHA:2609
HP:0030085	Abnormal CSF lactate concentration	25915	NDUFAF3	ORPHA:2609
HP:0030085	Abnormal CSF lactate concentration	25915	NDUFAF3	OMIM:618240
HP:0030085	Abnormal CSF lactate concentration	51103	NDUFAF1	ORPHA:2609
HP:0030085	Abnormal CSF lactate concentration	91942	NDUFAF2	ORPHA:2609
HP:0030085	Abnormal CSF lactate concentration	91942	NDUFAF2	OMIM:618233
HP:0030085	Abnormal CSF lactate concentration	51300	TIMMDC1	ORPHA:2609
HP:0030085	Abnormal CSF lactate concentration	4716	NDUFB10	ORPHA:2609
HP:0030085	Abnormal CSF lactate concentration	4723	NDUFV1	ORPHA:2609
HP:0030085	Abnormal CSF lactate concentration	4723	NDUFV1	OMIM:618225
HP:0030085	Abnormal CSF lactate concentration	55572	FOXRED1	ORPHA:2609
HP:0030085	Abnormal CSF lactate concentration	284184	NDUFAF8	ORPHA:2609
HP:0030085	Abnormal CSF lactate concentration	55863	TMEM126B	ORPHA:2609
HP:0030085	Abnormal CSF lactate concentration	4537	MT-ND3	ORPHA:2609
HP:0030085	Abnormal CSF lactate concentration	4537	MT-ND3	ORPHA:255210
HP:0030085	Abnormal CSF lactate concentration	4729	NDUFV2	ORPHA:2609
HP:0030085	Abnormal CSF lactate concentration	4694	NDUFA1	ORPHA:2609
HP:0030085	Abnormal CSF lactate concentration	4720	NDUFS2	ORPHA:2609
HP:0030085	Abnormal CSF lactate concentration	4724	NDUFS4	ORPHA:2609
HP:0030085	Abnormal CSF lactate concentration	4724	NDUFS4	OMIM:252010
HP:0030085	Abnormal CSF lactate concentration	4726	NDUFS6	ORPHA:2609
HP:0030085	Abnormal CSF lactate concentration	4728	NDUFS8	ORPHA:2609
HP:0030085	Abnormal CSF lactate concentration	4722	NDUFS3	ORPHA:2609
HP:0030085	Abnormal CSF lactate concentration	4722	NDUFS3	OMIM:618230
HP:0030085	Abnormal CSF lactate concentration	79133	NDUFAF5	ORPHA:2609
HP:0030085	Abnormal CSF lactate concentration	79133	NDUFAF5	OMIM:618238
HP:0030085	Abnormal CSF lactate concentration	126328	NDUFA11	ORPHA:2609
HP:0030085	Abnormal CSF lactate concentration	4709	NDUFB3	ORPHA:2609
HP:0030085	Abnormal CSF lactate concentration	80224	NUBPL	ORPHA:2609
HP:0030085	Abnormal CSF lactate concentration	80224	NUBPL	OMIM:618242
HP:0030085	Abnormal CSF lactate concentration	29078	NDUFAF4	ORPHA:2609
HP:0030085	Abnormal CSF lactate concentration	374291	NDUFS7	ORPHA:2609
HP:0030085	Abnormal CSF lactate concentration	4700	NDUFA6	ORPHA:2609
HP:0030085	Abnormal CSF lactate concentration	4700	NDUFA6	OMIM:618253
HP:0030085	Abnormal CSF lactate concentration	4536	MT-ND2	ORPHA:2609
HP:0030085	Abnormal CSF lactate concentration	4536	MT-ND2	ORPHA:255210
HP:0030085	Abnormal CSF lactate concentration	4719	NDUFS1	ORPHA:2609
HP:0030085	Abnormal CSF lactate concentration	4719	NDUFS1	OMIM:618226
HP:0030085	Abnormal CSF lactate concentration	4715	NDUFB9	ORPHA:2609
HP:0030085	Abnormal CSF lactate concentration	57128	LYRM4	OMIM:615595
HP:0030085	Abnormal CSF lactate concentration	4570	MT-TN	OMIM:220110
HP:0030085	Abnormal CSF lactate concentration	6834	SURF1	OMIM:220110
HP:0030085	Abnormal CSF lactate concentration	1317	SLC31A1	OMIM:620306
HP:0030085	Abnormal CSF lactate concentration	10059	DNM1L	OMIM:614388
HP:0030085	Abnormal CSF lactate concentration	6513	SLC2A1	OMIM:612126
HP:0030085	Abnormal CSF lactate concentration	85476	GFM1	OMIM:609060
HP:0030085	Abnormal CSF lactate concentration	84334	COA8	ORPHA:436271
HP:0030085	Abnormal CSF lactate concentration	123263	MTFMT	OMIM:614947
HP:0030085	Abnormal CSF lactate concentration	10667	FARS2	OMIM:614946
HP:0030085	Abnormal CSF lactate concentration	8050	PDHX	ORPHA:255182
HP:0030085	Abnormal CSF lactate concentration	4577	MT-TV	ORPHA:255210
HP:0030085	Abnormal CSF lactate concentration	4508	MT-ATP6	ORPHA:255210
HP:0030085	Abnormal CSF lactate concentration	4566	MT-TK	ORPHA:255210
HP:0030085	Abnormal CSF lactate concentration	51112	TRAPPC12	ORPHA:500144
HP:0030085	Abnormal CSF lactate concentration	65993	MRPS34	OMIM:617664
HP:0030085	Abnormal CSF lactate concentration	5160	PDHA1	OMIM:312170
HP:0030085	Abnormal CSF lactate concentration	5160	PDHA1	ORPHA:79243
HP:0030085	Abnormal CSF lactate concentration	56997	COQ8A	ORPHA:139485
HP:0030085	Abnormal CSF lactate concentration	56997	COQ8A	OMIM:612016
HP:0030085	Abnormal CSF lactate concentration	1352	COX10	OMIM:619046
HP:0030085	Abnormal CSF lactate concentration	54931	TRMT10C	OMIM:616974
HP:0030085	Abnormal CSF lactate concentration	3145	HMBS	OMIM:620711
HP:0030085	Abnormal CSF lactate concentration	51218	GLRX5	OMIM:616859
HP:0030085	Abnormal CSF lactate concentration	1353	COX11	OMIM:620275
HP:0030085	Abnormal CSF lactate concentration	4204	MECP2	ORPHA:778
HP:0030085	Abnormal CSF lactate concentration	87178	PNPT1	ORPHA:319514
HP:0030085	Abnormal CSF lactate concentration	87178	PNPT1	OMIM:614932
HP:0030085	Abnormal CSF lactate concentration	1340	COX6B1	OMIM:619051
HP:0030085	Abnormal CSF lactate concentration	84987	COX14	OMIM:619053
HP:0030085	Abnormal CSF lactate concentration	55967	NDUFA12	OMIM:618244
HP:0030085	Abnormal CSF lactate concentration	84340	GFM2	ORPHA:565624
HP:0030085	Abnormal CSF lactate concentration	84340	GFM2	OMIM:618397
HP:0030085	Abnormal CSF lactate concentration	1351	COX8A	OMIM:619059
HP:0030085	Abnormal CSF lactate concentration	4358	MPV17	OMIM:618400
HP:0030085	Abnormal CSF lactate concentration	4358	MPV17	OMIM:256810
HP:0030085	Abnormal CSF lactate concentration	116228	COX20	OMIM:619054
HP:0030085	Abnormal CSF lactate concentration	100131801	PET100	OMIM:619055
HP:0030085	Abnormal CSF lactate concentration	4705	NDUFA10	OMIM:618243
HP:0030085	Abnormal CSF lactate concentration	55157	DARS2	ORPHA:137898
HP:0030085	Abnormal CSF lactate concentration	291	SLC25A4	OMIM:615418
HP:0030085	Abnormal CSF lactate concentration	291	SLC25A4	OMIM:617184
HP:0030085	Abnormal CSF lactate concentration	9361	LONP1	ORPHA:79243
HP:0030085	Abnormal CSF lactate concentration	91647	ATPAF2	OMIM:604273
HP:0030085	Abnormal CSF lactate concentration	8802	SUCLG1	OMIM:245400
HP:0030085	Abnormal CSF lactate concentration	8802	SUCLG1	ORPHA:17
HP:0030085	Abnormal CSF lactate concentration	100303755	PET117	OMIM:619063
HP:0030085	Abnormal CSF lactate concentration	1327	COX4I1	OMIM:619060
HP:0030085	Abnormal CSF lactate concentration	4697	NDUFA4	OMIM:619065
HP:0030085	Abnormal CSF lactate concentration	4714	NDUFB8	OMIM:618252
HP:0030085	Abnormal CSF lactate concentration	790955	UQCC3	OMIM:616111
HP:0030085	Abnormal CSF lactate concentration	84300	UQCC2	OMIM:615824
HP:0030085	Abnormal CSF lactate concentration	79731	NARS2	OMIM:616239
HP:0030085	Abnormal CSF lactate concentration	27010	TPK1	OMIM:614458
HP:0030085	Abnormal CSF lactate concentration	3028	HSD17B10	ORPHA:391428
HP:0030085	Abnormal CSF lactate concentration	9997	SCO2	OMIM:604377
HP:0030085	Abnormal CSF lactate concentration	64849	SLC13A3	OMIM:618384
HP:0030085	Abnormal CSF lactate concentration	92609	TIMM50	OMIM:617698
HP:0030085	Abnormal CSF lactate concentration	4191	MDH2	OMIM:617339
HP:0030085	Abnormal CSF lactate concentration	90624	LYRM7	OMIM:615838
HP:0030085	Abnormal CSF lactate concentration	8659	ALDH4A1	ORPHA:79101
HP:0030085	Abnormal CSF lactate concentration	128240	NAXE	OMIM:617186
HP:0030085	Abnormal CSF lactate concentration	25828	TXN2	ORPHA:478029
HP:0030085	Abnormal CSF lactate concentration	25828	TXN2	OMIM:616811
HP:0030085	Abnormal CSF lactate concentration	4976	OPA1	OMIM:616896
HP:0030085	Abnormal CSF lactate concentration	539	ATP5PO	OMIM:620359
HP:0030085	Abnormal CSF lactate concentration	57038	RARS2	OMIM:611523
HP:0030085	Abnormal CSF lactate concentration	200205	IBA57	OMIM:615330
HP:0030085	Abnormal CSF lactate concentration	60386	SLC25A19	OMIM:613710
HP:0030085	Abnormal CSF lactate concentration	55005	RMND1	OMIM:614922
HP:0030085	Abnormal CSF lactate concentration	64116	SLC39A8	ORPHA:468699
HP:0030085	Abnormal CSF lactate concentration	27247	NFU1	OMIM:605711
HP:0030085	Abnormal CSF lactate concentration	84842	HPDL	OMIM:619026
HP:0030085	Abnormal CSF lactate concentration	81570	CLPB	OMIM:616271
HP:0030085	Abnormal CSF lactate concentration	1892	ECHS1	OMIM:616277
HP:0030085	Abnormal CSF lactate concentration	8803	SUCLA2	OMIM:612073
HP:0030085	Abnormal CSF lactate concentration	133686	NADK2	OMIM:616034
HP:0030085	Abnormal CSF lactate concentration	50484	RRM2B	OMIM:612075
HP:0030085	Abnormal CSF lactate concentration	27429	HTRA2	OMIM:617248
HP:0030087	Abnormal circulating testosterone concentration	6875	TAF4B	OMIM:615841
HP:0030087	Abnormal circulating testosterone concentration	84225	ZMYND15	OMIM:615842
HP:0030087	Abnormal circulating testosterone concentration	2099	ESR1	ORPHA:785
HP:0030087	Abnormal circulating testosterone concentration	93426	SYCE1	OMIM:616950
HP:0030087	Abnormal circulating testosterone concentration	8468	FKBP6	OMIM:620103
HP:0030087	Abnormal circulating testosterone concentration	84690	SPATA22	OMIM:621001
HP:0030087	Abnormal circulating testosterone concentration	4438	MSH4	OMIM:108420
HP:0030087	Abnormal circulating testosterone concentration	2908	NR3C1	ORPHA:786
HP:0030087	Abnormal circulating testosterone concentration	201134	CEP112	OMIM:619044
HP:0030087	Abnormal circulating testosterone concentration	2778	GNAS	ORPHA:562
HP:0030087	Abnormal circulating testosterone concentration	1584	CYP11B1	OMIM:202010
HP:0030087	Abnormal circulating testosterone concentration	1584	CYP11B1	ORPHA:90795
HP:0030087	Abnormal circulating testosterone concentration	7026	NR2F2	OMIM:618901
HP:0030087	Abnormal circulating testosterone concentration	367	AR	ORPHA:90797
HP:0030087	Abnormal circulating testosterone concentration	367	AR	ORPHA:99429
HP:0030087	Abnormal circulating testosterone concentration	54361	WNT4	ORPHA:247768
HP:0030087	Abnormal circulating testosterone concentration	5573	PRKAR1A	OMIM:610489
HP:0030087	Abnormal circulating testosterone concentration	3643	INSR	ORPHA:769
HP:0030087	Abnormal circulating testosterone concentration	2492	FSHR	ORPHA:64739
HP:0030087	Abnormal circulating testosterone concentration	11128	POLR3A	OMIM:264090
HP:0030087	Abnormal circulating testosterone concentration	11128	POLR3A	ORPHA:3455
HP:0030087	Abnormal circulating testosterone concentration	3284	HSD3B2	ORPHA:90791
HP:0030087	Abnormal circulating testosterone concentration	2260	FGFR1	ORPHA:432
HP:0030087	Abnormal circulating testosterone concentration	81848	SPRY4	ORPHA:432
HP:0030087	Abnormal circulating testosterone concentration	128674	PROKR2	ORPHA:432
HP:0030087	Abnormal circulating testosterone concentration	2253	FGF8	ORPHA:432
HP:0030087	Abnormal circulating testosterone concentration	60675	PROK2	ORPHA:432
HP:0030087	Abnormal circulating testosterone concentration	55636	CHD7	ORPHA:432
HP:0030087	Abnormal circulating testosterone concentration	6870	TACR3	ORPHA:432
HP:0030087	Abnormal circulating testosterone concentration	1848	DUSP6	ORPHA:432
HP:0030087	Abnormal circulating testosterone concentration	26012	NSMF	ORPHA:432
HP:0030087	Abnormal circulating testosterone concentration	55717	WDR11	ORPHA:432
HP:0030087	Abnormal circulating testosterone concentration	4808	NHLH2	ORPHA:432
HP:0030087	Abnormal circulating testosterone concentration	9394	HS6ST1	ORPHA:432
HP:0030087	Abnormal circulating testosterone concentration	2796	GNRH1	ORPHA:432
HP:0030087	Abnormal circulating testosterone concentration	2796	GNRH1	OMIM:614841
HP:0030087	Abnormal circulating testosterone concentration	2798	GNRHR	ORPHA:432
HP:0030087	Abnormal circulating testosterone concentration	84634	KISS1R	ORPHA:432
HP:0030087	Abnormal circulating testosterone concentration	6866	TAC3	ORPHA:432
HP:0030087	Abnormal circulating testosterone concentration	6866	TAC3	OMIM:614839
HP:0030087	Abnormal circulating testosterone concentration	8822	FGF17	ORPHA:432
HP:0030087	Abnormal circulating testosterone concentration	3814	KISS1	ORPHA:432
HP:0030087	Abnormal circulating testosterone concentration	55131	RBM28	ORPHA:157954
HP:0030087	Abnormal circulating testosterone concentration	2245	FGD1	OMIM:305400
HP:0030087	Abnormal circulating testosterone concentration	23312	DMXL2	ORPHA:453533
HP:0030087	Abnormal circulating testosterone concentration	57647	DHX37	OMIM:273250
HP:0030087	Abnormal circulating testosterone concentration	57647	DHX37	ORPHA:251510
HP:0030087	Abnormal circulating testosterone concentration	8314	BAP1	ORPHA:2495
HP:0030087	Abnormal circulating testosterone concentration	4771	NF2	ORPHA:2495
HP:0030087	Abnormal circulating testosterone concentration	6598	SMARCB1	ORPHA:2495
HP:0030087	Abnormal circulating testosterone concentration	5155	PDGFB	ORPHA:2495
HP:0030087	Abnormal circulating testosterone concentration	84231	TRAF7	ORPHA:2495
HP:0030087	Abnormal circulating testosterone concentration	6608	SMO	ORPHA:2495
HP:0030087	Abnormal circulating testosterone concentration	207	AKT1	ORPHA:2495
HP:0030087	Abnormal circulating testosterone concentration	5290	PIK3CA	ORPHA:2495
HP:0030087	Abnormal circulating testosterone concentration	7015	TERT	ORPHA:2495
HP:0030087	Abnormal circulating testosterone concentration	51684	SUFU	ORPHA:2495
HP:0030087	Abnormal circulating testosterone concentration	6605	SMARCE1	ORPHA:2495
HP:0030087	Abnormal circulating testosterone concentration	10908	PNPLA6	OMIM:215470
HP:0030087	Abnormal circulating testosterone concentration	2488	FSHB	ORPHA:52901
HP:0030087	Abnormal circulating testosterone concentration	3972	LHB	OMIM:228300
HP:0030087	Abnormal circulating testosterone concentration	1528	CYB5A	ORPHA:90796
HP:0030087	Abnormal circulating testosterone concentration	1586	CYP17A1	ORPHA:90796
HP:0030087	Abnormal circulating testosterone concentration	1586	CYP17A1	ORPHA:90793
HP:0030087	Abnormal circulating testosterone concentration	1363	CPE	OMIM:619326
HP:0030087	Abnormal circulating testosterone concentration	3952	LEP	ORPHA:66628
HP:0030087	Abnormal circulating testosterone concentration	5422	POLA1	ORPHA:163976
HP:0030087	Abnormal circulating testosterone concentration	4081	MAB21L1	ORPHA:495875
HP:0030087	Abnormal circulating testosterone concentration	79625	NDNF	OMIM:618841
HP:0030087	Abnormal circulating testosterone concentration	57697	FANCM	OMIM:618086
HP:0030087	Abnormal circulating testosterone concentration	654	BMP6	ORPHA:465508
HP:0030087	Abnormal circulating testosterone concentration	3077	HFE	ORPHA:465508
HP:0030087	Abnormal circulating testosterone concentration	55366	LGR4	OMIM:619613
HP:0030087	Abnormal circulating testosterone concentration	2583	B4GALNT1	ORPHA:101006
HP:0030087	Abnormal circulating testosterone concentration	2583	B4GALNT1	OMIM:609195
HP:0030087	Abnormal circulating testosterone concentration	3730	ANOS1	OMIM:308700
HP:0030087	Abnormal circulating testosterone concentration	93953	GCNA	OMIM:301077
HP:0030087	Abnormal circulating testosterone concentration	80067	DCAF17	OMIM:241080
HP:0030087	Abnormal circulating testosterone concentration	55630	SLC39A4	OMIM:201100
HP:0030087	Abnormal circulating testosterone concentration	389549	FEZF1	OMIM:616030
HP:0030087	Abnormal circulating testosterone concentration	6662	SOX9	OMIM:278850
HP:0030087	Abnormal circulating testosterone concentration	6662	SOX9	ORPHA:251510
HP:0030087	Abnormal circulating testosterone concentration	190	NR0B1	ORPHA:95702
HP:0030087	Abnormal circulating testosterone concentration	190	NR0B1	ORPHA:251510
HP:0030087	Abnormal circulating testosterone concentration	6736	SRY	ORPHA:1772
HP:0030087	Abnormal circulating testosterone concentration	6736	SRY	ORPHA:251510
HP:0030087	Abnormal circulating testosterone concentration	3953	LEPR	ORPHA:179494
HP:0030087	Abnormal circulating testosterone concentration	6845	VAMP7	ORPHA:251510
HP:0030087	Abnormal circulating testosterone concentration	51741	WWOX	ORPHA:251510
HP:0030087	Abnormal circulating testosterone concentration	4214	MAP3K1	ORPHA:251510
HP:0030087	Abnormal circulating testosterone concentration	2516	NR5A1	ORPHA:251510
HP:0030087	Abnormal circulating testosterone concentration	7490	WT1	ORPHA:251510
HP:0030087	Abnormal circulating testosterone concentration	23414	ZFPM2	ORPHA:251510
HP:0030087	Abnormal circulating testosterone concentration	2626	GATA4	ORPHA:251510
HP:0030087	Abnormal circulating testosterone concentration	10371	SEMA3A	OMIM:614897
HP:0030087	Abnormal circulating testosterone concentration	50846	DHH	ORPHA:168563
HP:0030088	Increased serum testosterone level	2778	GNAS	ORPHA:562
HP:0030088	Increased serum testosterone level	1584	CYP11B1	OMIM:202010
HP:0030088	Increased serum testosterone level	1584	CYP11B1	ORPHA:90795
HP:0030088	Increased serum testosterone level	7026	NR2F2	OMIM:618901
HP:0030088	Increased serum testosterone level	2908	NR3C1	OMIM:615962
HP:0030088	Increased serum testosterone level	367	AR	ORPHA:90797
HP:0030088	Increased serum testosterone level	367	AR	ORPHA:99429
HP:0030088	Increased serum testosterone level	54361	WNT4	ORPHA:247768
HP:0030088	Increased serum testosterone level	5573	PRKAR1A	OMIM:610489
HP:0030088	Increased serum testosterone level	3643	INSR	ORPHA:769
HP:0030088	Increased serum testosterone level	2492	FSHR	ORPHA:64739
HP:0030088	Increased serum testosterone level	11128	POLR3A	OMIM:264090
HP:0030088	Increased serum testosterone level	11128	POLR3A	ORPHA:3455
HP:0030088	Increased serum testosterone level	3284	HSD3B2	ORPHA:90791
HP:0030089	Abnormal muscle fiber protein expression	29925	GMPPB	ORPHA:370968
HP:0030089	Abnormal muscle fiber protein expression	29925	GMPPB	ORPHA:370959
HP:0030089	Abnormal muscle fiber protein expression	29925	GMPPB	OMIM:615350
HP:0030089	Abnormal muscle fiber protein expression	29925	GMPPB	OMIM:615351
HP:0030089	Abnormal muscle fiber protein expression	29925	GMPPB	OMIM:615352
HP:0030089	Abnormal muscle fiber protein expression	29954	POMT2	ORPHA:370968
HP:0030089	Abnormal muscle fiber protein expression	29954	POMT2	ORPHA:370959
HP:0030089	Abnormal muscle fiber protein expression	9215	LARGE1	ORPHA:370968
HP:0030089	Abnormal muscle fiber protein expression	10585	POMT1	ORPHA:370968
HP:0030089	Abnormal muscle fiber protein expression	10585	POMT1	ORPHA:370959
HP:0030089	Abnormal muscle fiber protein expression	10585	POMT1	OMIM:609308
HP:0030089	Abnormal muscle fiber protein expression	84197	POMK	ORPHA:370959
HP:0030089	Abnormal muscle fiber protein expression	55624	POMGNT1	ORPHA:370959
HP:0030089	Abnormal muscle fiber protein expression	2218	FKTN	ORPHA:272
HP:0030089	Abnormal muscle fiber protein expression	2218	FKTN	OMIM:611588
HP:0030089	Abnormal muscle fiber protein expression	729920	CRPPA	OMIM:616052
HP:0030089	Abnormal muscle fiber protein expression	729920	CRPPA	ORPHA:352479
HP:0030089	Abnormal muscle fiber protein expression	9570	GOSR2	OMIM:620166
HP:0030089	Abnormal muscle fiber protein expression	1605	DAG1	ORPHA:370997
HP:0030089	Abnormal muscle fiber protein expression	1605	DAG1	OMIM:613818
HP:0030089	Abnormal muscle fiber protein expression	859	CAV3	ORPHA:488650
HP:0030089	Abnormal muscle fiber protein expression	2671	GFER	ORPHA:330054
HP:0030089	Abnormal muscle fiber protein expression	57190	SELENON	ORPHA:324604
HP:0030089	Abnormal muscle fiber protein expression	4625	MYH7	ORPHA:324604
HP:0030089	Abnormal muscle fiber protein expression	7273	TTN	ORPHA:324604
HP:0030089	Abnormal muscle fiber protein expression	79147	FKRP	ORPHA:34515
HP:0030089	Abnormal muscle fiber protein expression	1292	COL6A2	OMIM:620727
HP:0030089	Abnormal muscle fiber protein expression	1292	COL6A2	ORPHA:610
HP:0030089	Abnormal muscle fiber protein expression	1291	COL6A1	OMIM:254090
HP:0030089	Abnormal muscle fiber protein expression	1291	COL6A1	ORPHA:610
HP:0030089	Abnormal muscle fiber protein expression	1303	COL12A1	ORPHA:610
HP:0030089	Abnormal muscle fiber protein expression	1293	COL6A3	ORPHA:610
HP:0030089	Abnormal muscle fiber protein expression	1756	DMD	ORPHA:206546
HP:0030089	Abnormal muscle fiber protein expression	3156	HMGCR	OMIM:620375
HP:0030089	Abnormal muscle fiber protein expression	8291	DYSF	ORPHA:178400
HP:0030089	Abnormal muscle fiber protein expression	4000	LMNA	ORPHA:98855
HP:0030089	Abnormal muscle fiber protein expression	4000	LMNA	ORPHA:98853
HP:0030089	Abnormal muscle fiber protein expression	2273	FHL1	ORPHA:98863
HP:0030089	Abnormal muscle fiber protein expression	2010	EMD	ORPHA:98863
HP:0030089	Abnormal muscle fiber protein expression	79188	TMEM43	ORPHA:98853
HP:0030089	Abnormal muscle fiber protein expression	23345	SYNE1	ORPHA:98853
HP:0030089	Abnormal muscle fiber protein expression	23224	SYNE2	ORPHA:98853
HP:0030089	Abnormal muscle fiber protein expression	1410	CRYAB	ORPHA:399058
HP:0030089	Abnormal muscle fiber protein expression	9499	MYOT	ORPHA:98911
HP:0030089	Abnormal muscle fiber protein expression	10073	SNUPN	OMIM:620793
HP:0030089	Abnormal muscle fiber protein expression	3908	LAMA2	OMIM:618138
HP:0030032	Partial absence of foot	2737	GLI3	ORPHA:93322
HP:0030031	Small toe	7543	ZFX	OMIM:301118
HP:0030039	Fused thoracic vertebrae	4621	MYH3	OMIM:618469
HP:0030038	Enchondroma	5781	PTPN11	OMIM:156250
HP:0030038	Enchondroma	5781	PTPN11	ORPHA:2499
HP:0030038	Enchondroma	1280	COL2A1	ORPHA:85198
HP:0030038	Enchondroma	84172	POLR1B	ORPHA:861
HP:0030038	Enchondroma	9533	POLR1C	ORPHA:861
HP:0030038	Enchondroma	51082	POLR1D	ORPHA:861
HP:0030038	Enchondroma	6949	TCOF1	ORPHA:861
HP:0030038	Enchondroma	3418	IDH2	ORPHA:163634
HP:0030038	Enchondroma	3418	IDH2	ORPHA:296
HP:0030038	Enchondroma	3417	IDH1	ORPHA:163634
HP:0030038	Enchondroma	3417	IDH1	ORPHA:296
HP:0030038	Enchondroma	3417	IDH1	ORPHA:99646
HP:0030038	Enchondroma	5745	PTH1R	ORPHA:296
HP:0030038	Enchondroma	8379	MAD1L1	OMIM:620189
HP:0030038	Enchondroma	10535	RNASEH2A	ORPHA:51
HP:0030038	Enchondroma	84153	RNASEH2C	ORPHA:51
HP:0030038	Enchondroma	25939	SAMHD1	ORPHA:51
HP:0030038	Enchondroma	79621	RNASEH2B	ORPHA:51
HP:0030038	Enchondroma	103	ADAR	ORPHA:51
HP:0030038	Enchondroma	11277	TREX1	ORPHA:51
HP:0030038	Enchondroma	100147744	RNU7-1	ORPHA:51
HP:0030038	Enchondroma	134353	LSM11	ORPHA:51
HP:0030038	Enchondroma	64135	IFIH1	ORPHA:51
HP:0030038	Enchondroma	54	ACP5	ORPHA:1855
HP:0030038	Enchondroma	5573	PRKAR1A	ORPHA:1359
HP:0030038	Enchondroma	50940	PDE11A	ORPHA:1359
HP:0030038	Enchondroma	90	ACVR1	ORPHA:337
HP:0030037	Bifid ureter	80781	COL18A1	OMIM:267750
HP:0030037	Bifid ureter	80781	COL18A1	ORPHA:1571
HP:0030037	Bifid ureter	9158	FIBP	OMIM:617107
HP:0030037	Bifid ureter	9158	FIBP	ORPHA:500095
HP:0030037	Bifid ureter	64840	PORCN	OMIM:305600
HP:0030037	Bifid ureter	5062	PAK2	ORPHA:1571
HP:0030037	Bifid ureter	5087	PBX1	OMIM:617641
HP:0030036	Isothenuria	6521	SLC4A1	OMIM:611590
HP:0030034	Glomerular basement membrane lamellation	1286	COL4A4	OMIM:203780
HP:0030034	Glomerular basement membrane lamellation	1285	COL4A3	OMIM:104200
HP:0030034	Glomerular basement membrane lamellation	1287	COL4A5	OMIM:301050
HP:0030033	Small finger	3549	IHH	OMIM:607778
HP:0030033	Small finger	3759	KCNJ2	OMIM:170390
HP:0030043	Hip subluxation	64135	IFIH1	OMIM:182250
HP:0030043	Hip subluxation	4921	DDR2	OMIM:271665
HP:0030043	Hip subluxation	3835	KIF22	ORPHA:93360
HP:0030043	Hip subluxation	57187	THOC2	OMIM:300957
HP:0030043	Hip subluxation	7355	SLC35A2	ORPHA:356961
HP:0030043	Hip subluxation	55628	ZNF407	OMIM:619557
HP:0030043	Hip subluxation	51608	GET4	OMIM:620200
HP:0030043	Hip subluxation	4796	TONSL	ORPHA:93357
HP:0030043	Hip subluxation	5351	PLOD1	ORPHA:1900
HP:0030043	Hip subluxation	28962	OSTM1	OMIM:259720
HP:0030043	Hip subluxation	1717	DHCR7	OMIM:270400
HP:0030043	Hip subluxation	27125	AFF4	ORPHA:444077
HP:0030043	Hip subluxation	4784	NFIX	ORPHA:447980
HP:0030043	Hip subluxation	84823	LMNB2	OMIM:619180
HP:0030043	Hip subluxation	51112	TRAPPC12	ORPHA:500144
HP:0030043	Hip subluxation	29998	BICRA	OMIM:619325
HP:0030043	Hip subluxation	9775	EIF4A3	OMIM:268305
HP:0030043	Hip subluxation	9451	EIF2AK3	OMIM:226980
HP:0030043	Hip subluxation	1293	COL6A3	OMIM:620728
HP:0030043	Hip subluxation	25871	NEPRO	OMIM:618853
HP:0030043	Hip subluxation	2783	GNB2	OMIM:619503
HP:0030043	Hip subluxation	10664	CTCF	OMIM:615502
HP:0030043	Hip subluxation	79633	FAT4	OMIM:615546
HP:0030043	Hip subluxation	79158	GNPTAB	OMIM:252500
HP:0030043	Hip subluxation	126792	B3GALT6	OMIM:271640
HP:0030042	Incomplete ossification of pubis	2263	FGFR2	ORPHA:313855
HP:0030041	Schmorl's node	1297	COL9A1	OMIM:614135
HP:0030041	Schmorl's node	1280	COL2A1	OMIM:604864
HP:0030049	Brain abscess	94	ACVRL1	OMIM:600376
HP:0030049	Brain abscess	2022	ENG	OMIM:187300
HP:0030049	Brain abscess	2261	FGFR3	OMIM:616482
HP:0030048	Colpocephaly	3187	HNRNPH1	OMIM:620083
HP:0030048	Colpocephaly	10735	STAG2	OMIM:301043
HP:0030048	Colpocephaly	340075	ARSI	ORPHA:401815
HP:0030048	Colpocephaly	54539	NDUFB11	OMIM:309801
HP:0030048	Colpocephaly	1349	COX7B	OMIM:309801
HP:0030048	Colpocephaly	3052	HCCS	OMIM:309801
HP:0030048	Colpocephaly	54892	NCAPG2	OMIM:618460
HP:0030048	Colpocephaly	23522	KAT6B	OMIM:606170
HP:0030048	Colpocephaly	100151683	RNU4ATAC	OMIM:210710
HP:0030048	Colpocephaly	4659	PPP1R12A	OMIM:618820
HP:0030048	Colpocephaly	5828	PEX2	OMIM:614866
HP:0030048	Colpocephaly	8777	MPDZ	OMIM:615219
HP:0030048	Colpocephaly	51807	TUBA8	ORPHA:250972
HP:0030048	Colpocephaly	4897	NRCAM	OMIM:619833
HP:0030048	Colpocephaly	5361	PLXNA1	OMIM:619955
HP:0030048	Colpocephaly	84320	ACBD6	OMIM:620785
HP:0030048	Colpocephaly	26576	SRPK3	OMIM:301134
HP:0030048	Colpocephaly	1717	DHCR7	OMIM:270400
HP:0030048	Colpocephaly	79848	CSPP1	ORPHA:397715
HP:0030048	Colpocephaly	9786	KIAA0586	ORPHA:397715
HP:0030048	Colpocephaly	7707	ZNF148	OMIM:617260
HP:0030048	Colpocephaly	22872	SEC31A	OMIM:618651
HP:0030048	Colpocephaly	23028	KDM1A	ORPHA:477993
HP:0030048	Colpocephaly	57647	DHX37	OMIM:618731
HP:0030048	Colpocephaly	5192	PEX10	OMIM:614870
HP:0030048	Colpocephaly	29123	ANKRD11	ORPHA:261250
HP:0030048	Colpocephaly	133686	NADK2	OMIM:616034
HP:0030048	Colpocephaly	55215	FANCI	OMIM:609053
HP:0030048	Colpocephaly	54820	NDE1	OMIM:614019
HP:0030048	Colpocephaly	118924	FRA10AC1	OMIM:620113
HP:0030048	Colpocephaly	55780	ERMARD	ORPHA:75857
HP:0030048	Colpocephaly	26834	RNU4-2	OMIM:620851
HP:0030048	Colpocephaly	26153	KIF26A	OMIM:620156
HP:0030048	Colpocephaly	58499	ZNF462	OMIM:618619
HP:0030048	Colpocephaly	1759	DNM1	OMIM:620352
HP:0030048	Colpocephaly	90952	ESAM	OMIM:620371
HP:0030047	Abnormal lateral ventricle morphology	81555	YIPF5	OMIM:619278
HP:0030047	Abnormal lateral ventricle morphology	10466	COG5	ORPHA:263487
HP:0030047	Abnormal lateral ventricle morphology	10159	ATP6AP2	ORPHA:363654
HP:0030047	Abnormal lateral ventricle morphology	4750	NEK1	OMIM:263520
HP:0030047	Abnormal lateral ventricle morphology	100151683	RNU4ATAC	OMIM:210710
HP:0030047	Abnormal lateral ventricle morphology	23394	ADNP	OMIM:615873
HP:0030047	Abnormal lateral ventricle morphology	7355	SLC35A2	ORPHA:356961
HP:0030047	Abnormal lateral ventricle morphology	7355	SLC35A2	OMIM:300896
HP:0030047	Abnormal lateral ventricle morphology	7545	ZIC1	OMIM:616602
HP:0030047	Abnormal lateral ventricle morphology	7545	ZIC1	OMIM:618736
HP:0030047	Abnormal lateral ventricle morphology	253738	EBF3	ORPHA:96148
HP:0030047	Abnormal lateral ventricle morphology	79848	CSPP1	ORPHA:397715
HP:0030047	Abnormal lateral ventricle morphology	9786	KIAA0586	ORPHA:397715
HP:0030047	Abnormal lateral ventricle morphology	80816	ASXL3	OMIM:615485
HP:0030047	Abnormal lateral ventricle morphology	387787	LIPT2	OMIM:617668
HP:0030047	Abnormal lateral ventricle morphology	1841	DTYMK	OMIM:619847
HP:0030047	Abnormal lateral ventricle morphology	23291	FBXW11	OMIM:618914
HP:0030047	Abnormal lateral ventricle morphology	4953	ODC1	ORPHA:544488
HP:0030047	Abnormal lateral ventricle morphology	57505	AARS2	OMIM:615889
HP:0030047	Abnormal lateral ventricle morphology	8893	EIF2B5	OMIM:620315
HP:0030047	Abnormal lateral ventricle morphology	24142	NAA80	OMIM:620830
HP:0030047	Abnormal lateral ventricle morphology	9382	COG1	OMIM:611209
HP:0030047	Abnormal lateral ventricle morphology	90161	HS6ST2	OMIM:301025
HP:0030047	Abnormal lateral ventricle morphology	57551	TAOK1	OMIM:619575
HP:0030047	Abnormal lateral ventricle morphology	84340	GFM2	ORPHA:565624
HP:0030047	Abnormal lateral ventricle morphology	129685	TAF8	OMIM:619972
HP:0030047	Abnormal lateral ventricle morphology	10588	MTHFS	OMIM:618367
HP:0030047	Abnormal lateral ventricle morphology	347733	TUBB2B	ORPHA:300573
HP:0030047	Abnormal lateral ventricle morphology	11274	USP18	OMIM:617397
HP:0030047	Abnormal lateral ventricle morphology	7528	YY1	OMIM:617557
HP:0030047	Abnormal lateral ventricle morphology	10381	TUBB3	ORPHA:300570
HP:0030047	Abnormal lateral ventricle morphology	81857	MED25	ORPHA:464738
HP:0030047	Abnormal lateral ventricle morphology	8792	TNFRSF11A	OMIM:612301
HP:0030047	Abnormal lateral ventricle morphology	9361	LONP1	ORPHA:79243
HP:0030047	Abnormal lateral ventricle morphology	5160	PDHA1	ORPHA:79243
HP:0030047	Abnormal lateral ventricle morphology	83480	PUS3	ORPHA:488627
HP:0030047	Abnormal lateral ventricle morphology	54806	AHI1	OMIM:608629
HP:0030047	Abnormal lateral ventricle morphology	80311	KLHL15	OMIM:300982
HP:0030047	Abnormal lateral ventricle morphology	29968	PSAT1	ORPHA:284417
HP:0030047	Abnormal lateral ventricle morphology	9839	ZEB2	ORPHA:261552
HP:0030047	Abnormal lateral ventricle morphology	9839	ZEB2	ORPHA:261537
HP:0030047	Abnormal lateral ventricle morphology	2009	EML1	OMIM:600348
HP:0030047	Abnormal lateral ventricle morphology	25930	PTPN23	OMIM:618890
HP:0030047	Abnormal lateral ventricle morphology	5277	PIGA	OMIM:300868
HP:0030047	Abnormal lateral ventricle morphology	8550	MAPKAPK5	OMIM:619869
HP:0030047	Abnormal lateral ventricle morphology	80208	SPG11	ORPHA:2822
HP:0030047	Abnormal lateral ventricle morphology	1641	DCX	ORPHA:2148
HP:0030047	Abnormal lateral ventricle morphology	10352	WARS2	ORPHA:572798
HP:0030047	Abnormal lateral ventricle morphology	23230	VPS13A	ORPHA:2388
HP:0030047	Abnormal lateral ventricle morphology	23230	VPS13A	OMIM:200150
HP:0030047	Abnormal lateral ventricle morphology	200734	SPRED2	OMIM:619745
HP:0030047	Abnormal lateral ventricle morphology	2752	GLUL	OMIM:610015
HP:0030047	Abnormal lateral ventricle morphology	6304	SATB1	OMIM:619229
HP:0030047	Abnormal lateral ventricle morphology	6638	SNRPN	ORPHA:177907
HP:0030047	Abnormal lateral ventricle morphology	57572	DOCK6	OMIM:614219
HP:0030047	Abnormal lateral ventricle morphology	80347	COASY	OMIM:618266
HP:0030047	Abnormal lateral ventricle morphology	57498	KIDINS220	OMIM:617296
HP:0030047	Abnormal lateral ventricle morphology	56006	SMG9	OMIM:619995
HP:0030047	Abnormal lateral ventricle morphology	9851	KIAA0753	OMIM:619479
HP:0030047	Abnormal lateral ventricle morphology	54539	NDUFB11	OMIM:300952
HP:0030047	Abnormal lateral ventricle morphology	1182	CLCN3	OMIM:619517
HP:0030047	Abnormal lateral ventricle morphology	1213	CLTC	OMIM:617854
HP:0030047	Abnormal lateral ventricle morphology	4329	ALDH6A1	OMIM:614105
HP:0030047	Abnormal lateral ventricle morphology	4784	NFIX	ORPHA:420179
HP:0030047	Abnormal lateral ventricle morphology	93210	PGAP3	OMIM:615716
HP:0030047	Abnormal lateral ventricle morphology	2896	GRN	OMIM:607485
HP:0030047	Abnormal lateral ventricle morphology	85365	ALG2	ORPHA:79326
HP:0030047	Abnormal lateral ventricle morphology	26576	SRPK3	OMIM:301134
HP:0030047	Abnormal lateral ventricle morphology	284252	KCTD1	OMIM:181270
HP:0030047	Abnormal lateral ventricle morphology	728294	D2HGDH	OMIM:600721
HP:0030047	Abnormal lateral ventricle morphology	100147744	RNU7-1	OMIM:619487
HP:0030047	Abnormal lateral ventricle morphology	91875	TTC5	OMIM:619244
HP:0030047	Abnormal lateral ventricle morphology	7443	VRK1	OMIM:607596
HP:0030047	Abnormal lateral ventricle morphology	51244	CCDC174	OMIM:616816
HP:0030047	Abnormal lateral ventricle morphology	10430	TMEM147	OMIM:620075
HP:0030047	Abnormal lateral ventricle morphology	259266	ASPM	OMIM:608716
HP:0030047	Abnormal lateral ventricle morphology	79989	IFT56	OMIM:619534
HP:0030047	Abnormal lateral ventricle morphology	5879	RAC1	OMIM:617751
HP:0030047	Abnormal lateral ventricle morphology	5528	PPP2R5D	ORPHA:457279
HP:0030047	Abnormal lateral ventricle morphology	6651	SON	ORPHA:500150
HP:0030047	Abnormal lateral ventricle morphology	9215	LARGE1	OMIM:613154
HP:0030047	Abnormal lateral ventricle morphology	738	VPS51	OMIM:618606
HP:0030047	Abnormal lateral ventricle morphology	2146	EZH2	OMIM:277590
HP:0030047	Abnormal lateral ventricle morphology	4087	SMAD2	OMIM:619657
HP:0030047	Abnormal lateral ventricle morphology	8139	GAN	OMIM:256850
HP:0030047	Abnormal lateral ventricle morphology	2639	GCDH	OMIM:231670
HP:0030047	Abnormal lateral ventricle morphology	23299	BICD2	OMIM:618291
HP:0030047	Abnormal lateral ventricle morphology	7546	ZIC2	OMIM:609637
HP:0030047	Abnormal lateral ventricle morphology	7305	TYROBP	OMIM:221770
HP:0030047	Abnormal lateral ventricle morphology	1523	CUX1	OMIM:618330
HP:0030047	Abnormal lateral ventricle morphology	3763	KCNJ6	OMIM:614098
HP:0030047	Abnormal lateral ventricle morphology	22930	RAB3GAP1	OMIM:619420
HP:0030047	Abnormal lateral ventricle morphology	4208	MEF2C	OMIM:613443
HP:0030047	Abnormal lateral ventricle morphology	2902	GRIN1	ORPHA:208447
HP:0030047	Abnormal lateral ventricle morphology	90952	ESAM	OMIM:620371
HP:0030047	Abnormal lateral ventricle morphology	8085	KMT2D	OMIM:147920
HP:0030047	Abnormal lateral ventricle morphology	7403	KDM6A	OMIM:147920
HP:0030047	Abnormal lateral ventricle morphology	54872	PIGG	ORPHA:488635
HP:0030047	Abnormal lateral ventricle morphology	1387	CREBBP	ORPHA:353277
HP:0030047	Abnormal lateral ventricle morphology	2033	EP300	ORPHA:353284
HP:0030047	Abnormal lateral ventricle morphology	79868	ALG13	ORPHA:324422
HP:0030047	Abnormal lateral ventricle morphology	54	ACP5	ORPHA:1855
HP:0030047	Abnormal lateral ventricle morphology	3187	HNRNPH1	OMIM:620083
HP:0030047	Abnormal lateral ventricle morphology	10735	STAG2	OMIM:301043
HP:0030047	Abnormal lateral ventricle morphology	340075	ARSI	ORPHA:401815
HP:0030047	Abnormal lateral ventricle morphology	1349	COX7B	OMIM:309801
HP:0030047	Abnormal lateral ventricle morphology	3052	HCCS	OMIM:309801
HP:0030047	Abnormal lateral ventricle morphology	54892	NCAPG2	OMIM:618460
HP:0030047	Abnormal lateral ventricle morphology	23522	KAT6B	OMIM:606170
HP:0030047	Abnormal lateral ventricle morphology	4659	PPP1R12A	OMIM:618820
HP:0030047	Abnormal lateral ventricle morphology	5828	PEX2	OMIM:614866
HP:0030047	Abnormal lateral ventricle morphology	8777	MPDZ	OMIM:615219
HP:0030047	Abnormal lateral ventricle morphology	51807	TUBA8	ORPHA:250972
HP:0030047	Abnormal lateral ventricle morphology	4897	NRCAM	OMIM:619833
HP:0030047	Abnormal lateral ventricle morphology	5361	PLXNA1	OMIM:619955
HP:0030047	Abnormal lateral ventricle morphology	84320	ACBD6	OMIM:620785
HP:0030047	Abnormal lateral ventricle morphology	1717	DHCR7	OMIM:270400
HP:0030047	Abnormal lateral ventricle morphology	7707	ZNF148	OMIM:617260
HP:0030047	Abnormal lateral ventricle morphology	22872	SEC31A	OMIM:618651
HP:0030047	Abnormal lateral ventricle morphology	23028	KDM1A	ORPHA:477993
HP:0030047	Abnormal lateral ventricle morphology	57647	DHX37	OMIM:618731
HP:0030047	Abnormal lateral ventricle morphology	5192	PEX10	OMIM:614870
HP:0030047	Abnormal lateral ventricle morphology	29123	ANKRD11	ORPHA:261250
HP:0030047	Abnormal lateral ventricle morphology	133686	NADK2	OMIM:616034
HP:0030047	Abnormal lateral ventricle morphology	55215	FANCI	OMIM:609053
HP:0030047	Abnormal lateral ventricle morphology	54820	NDE1	OMIM:614019
HP:0030047	Abnormal lateral ventricle morphology	118924	FRA10AC1	OMIM:620113
HP:0030047	Abnormal lateral ventricle morphology	55780	ERMARD	ORPHA:75857
HP:0030047	Abnormal lateral ventricle morphology	26834	RNU4-2	OMIM:620851
HP:0030047	Abnormal lateral ventricle morphology	26153	KIF26A	OMIM:620156
HP:0030047	Abnormal lateral ventricle morphology	58499	ZNF462	OMIM:618619
HP:0030047	Abnormal lateral ventricle morphology	1759	DNM1	OMIM:620352
HP:0030047	Abnormal lateral ventricle morphology	57282	SLC4A10	OMIM:620746
HP:0030046	Hypoglycosylation of alpha-dystroglycan	29925	GMPPB	ORPHA:370968
HP:0030046	Hypoglycosylation of alpha-dystroglycan	29925	GMPPB	ORPHA:370959
HP:0030046	Hypoglycosylation of alpha-dystroglycan	29925	GMPPB	OMIM:615350
HP:0030046	Hypoglycosylation of alpha-dystroglycan	29925	GMPPB	OMIM:615351
HP:0030046	Hypoglycosylation of alpha-dystroglycan	29925	GMPPB	OMIM:615352
HP:0030046	Hypoglycosylation of alpha-dystroglycan	79147	FKRP	ORPHA:370968
HP:0030046	Hypoglycosylation of alpha-dystroglycan	79147	FKRP	ORPHA:370959
HP:0030046	Hypoglycosylation of alpha-dystroglycan	29954	POMT2	ORPHA:370968
HP:0030046	Hypoglycosylation of alpha-dystroglycan	29954	POMT2	ORPHA:370959
HP:0030046	Hypoglycosylation of alpha-dystroglycan	9215	LARGE1	ORPHA:370968
HP:0030046	Hypoglycosylation of alpha-dystroglycan	10585	POMT1	ORPHA:370968
HP:0030046	Hypoglycosylation of alpha-dystroglycan	10585	POMT1	ORPHA:370959
HP:0030046	Hypoglycosylation of alpha-dystroglycan	10585	POMT1	OMIM:609308
HP:0030046	Hypoglycosylation of alpha-dystroglycan	84197	POMK	ORPHA:370959
HP:0030046	Hypoglycosylation of alpha-dystroglycan	55624	POMGNT1	ORPHA:370959
HP:0030046	Hypoglycosylation of alpha-dystroglycan	2218	FKTN	ORPHA:272
HP:0030046	Hypoglycosylation of alpha-dystroglycan	2218	FKTN	OMIM:611588
HP:0030046	Hypoglycosylation of alpha-dystroglycan	729920	CRPPA	OMIM:616052
HP:0030046	Hypoglycosylation of alpha-dystroglycan	729920	CRPPA	ORPHA:352479
HP:0030046	Hypoglycosylation of alpha-dystroglycan	9570	GOSR2	OMIM:620166
HP:0030046	Hypoglycosylation of alpha-dystroglycan	1605	DAG1	ORPHA:370997
HP:0030046	Hypoglycosylation of alpha-dystroglycan	1605	DAG1	OMIM:613818
HP:0030044	Flexion contracture of digit	64093	SMOC1	OMIM:206920
HP:0030044	Flexion contracture of digit	64093	SMOC1	ORPHA:1106
HP:0030044	Flexion contracture of digit	1832	DSP	ORPHA:158687
HP:0030044	Flexion contracture of digit	3728	JUP	ORPHA:158687
HP:0030044	Flexion contracture of digit	29895	MYL11	OMIM:619110
HP:0030044	Flexion contracture of digit	2737	GLI3	OMIM:175700
HP:0030044	Flexion contracture of digit	10216	PRG4	ORPHA:2848
HP:0030044	Flexion contracture of digit	84295	PHF6	ORPHA:127
HP:0030044	Flexion contracture of digit	4313	MMP2	OMIM:259600
HP:0030044	Flexion contracture of digit	55628	ZNF407	OMIM:619557
HP:0030044	Flexion contracture of digit	23219	FBXO28	OMIM:619777
HP:0030044	Flexion contracture of digit	84265	POLR3GL	OMIM:619234
HP:0030044	Flexion contracture of digit	10297	APC2	ORPHA:821
HP:0030044	Flexion contracture of digit	80204	FBXO11	OMIM:618089
HP:0030044	Flexion contracture of digit	139285	AMER1	OMIM:300373
HP:0030044	Flexion contracture of digit	11160	ERLIN2	ORPHA:209951
HP:0030044	Flexion contracture of digit	55315	SLC29A3	OMIM:602782
HP:0030044	Flexion contracture of digit	2200	FBN1	OMIM:608328
HP:0030044	Flexion contracture of digit	23556	PIGN	ORPHA:280633
HP:0030044	Flexion contracture of digit	22978	NT5C2	ORPHA:320396
HP:0030044	Flexion contracture of digit	64127	NOD2	OMIM:186580
HP:0030044	Flexion contracture of digit	4621	MYH3	OMIM:193700
HP:0030044	Flexion contracture of digit	23102	TBC1D2B	OMIM:619323
HP:0030044	Flexion contracture of digit	3977	LIFR	OMIM:601559
HP:0030044	Flexion contracture of digit	9150	CTDP1	ORPHA:48431
HP:0030044	Flexion contracture of digit	7043	TGFB3	OMIM:615582
HP:0030044	Flexion contracture of digit	1984	EIF5A	OMIM:619376
HP:0030044	Flexion contracture of digit	5696	PSMB8	OMIM:256040
HP:0030044	Flexion contracture of digit	3339	HSPG2	OMIM:255800
HP:0030044	Flexion contracture of digit	3339	HSPG2	ORPHA:800
HP:0030044	Flexion contracture of digit	2067	ERCC1	OMIM:610758
HP:0030044	Flexion contracture of digit	825	CAPN3	ORPHA:267
HP:0030044	Flexion contracture of digit	113179	ADAT3	ORPHA:363528
HP:0030044	Flexion contracture of digit	51305	KCNK9	ORPHA:166108
HP:0030044	Flexion contracture of digit	22880	MORC2	ORPHA:466768
HP:0030044	Flexion contracture of digit	170689	ADAMTS15	OMIM:620545
HP:0030044	Flexion contracture of digit	6329	SCN4A	OMIM:620351
HP:0030044	Flexion contracture of digit	10765	KDM5B	OMIM:618109
HP:0030044	Flexion contracture of digit	10093	ARPC4	OMIM:620141
HP:0030044	Flexion contracture of digit	11011	TLK2	OMIM:618050
HP:0030044	Flexion contracture of digit	6909	TBX2	OMIM:618223
HP:0030044	Flexion contracture of digit	90459	ERI1	OMIM:620662
HP:0030044	Flexion contracture of digit	80816	ASXL3	OMIM:615485
HP:0030044	Flexion contracture of digit	81857	MED25	ORPHA:464738
HP:0030044	Flexion contracture of digit	1277	COL1A1	OMIM:130060
HP:0030044	Flexion contracture of digit	23327	NEDD4L	OMIM:617201
HP:0030044	Flexion contracture of digit	8985	PLOD3	OMIM:612394
HP:0030044	Flexion contracture of digit	10262	SF3B4	OMIM:154400
HP:0030044	Flexion contracture of digit	91754	NEK9	OMIM:614262
HP:0030044	Flexion contracture of digit	775	CACNA1C	OMIM:620029
HP:0030044	Flexion contracture of digit	3008	H1-4	OMIM:617537
HP:0030044	Flexion contracture of digit	84942	WDR73	OMIM:251300
HP:0030044	Flexion contracture of digit	5830	PEX5	OMIM:214110
HP:0030044	Flexion contracture of digit	5447	POR	ORPHA:95699
HP:0030044	Flexion contracture of digit	5447	POR	OMIM:201750
HP:0030044	Flexion contracture of digit	5447	POR	OMIM:207410
HP:0030044	Flexion contracture of digit	1836	SLC26A2	ORPHA:56304
HP:0030044	Flexion contracture of digit	1855	DVL1	OMIM:616331
HP:0030044	Flexion contracture of digit	4649	MYO9A	OMIM:618198
HP:0030044	Flexion contracture of digit	2261	FGFR3	OMIM:610474
HP:0030044	Flexion contracture of digit	2201	FBN2	OMIM:121050
HP:0030044	Flexion contracture of digit	4000	LMNA	OMIM:248370
HP:0030044	Flexion contracture of digit	79158	GNPTAB	OMIM:252500
HP:0030044	Flexion contracture of digit	9382	COG1	OMIM:611209
HP:0030044	Flexion contracture of digit	57231	SNX14	ORPHA:397709
HP:0030044	Flexion contracture of digit	57231	SNX14	OMIM:616354
HP:0030044	Flexion contracture of digit	7125	TNNC2	OMIM:620161
HP:0030044	Flexion contracture of digit	1146	CHRNG	OMIM:265000
HP:0030044	Flexion contracture of digit	56992	KIF15	ORPHA:261323
HP:0030044	Flexion contracture of digit	57589	RIC1	OMIM:618761
HP:0030044	Flexion contracture of digit	1272	CNTN1	OMIM:612540
HP:0030044	Flexion contracture of digit	64359	NXN	OMIM:618529
HP:0030044	Flexion contracture of digit	259232	NALCN	ORPHA:562528
HP:0030044	Flexion contracture of digit	259232	NALCN	OMIM:616266
HP:0030044	Flexion contracture of digit	9839	ZEB2	ORPHA:261552
HP:0030044	Flexion contracture of digit	9839	ZEB2	ORPHA:261537
HP:0030044	Flexion contracture of digit	8726	EED	OMIM:617561
HP:0030044	Flexion contracture of digit	1301	COL11A1	OMIM:228520
HP:0030044	Flexion contracture of digit	80776	B9D2	OMIM:614175
HP:0030044	Flexion contracture of digit	1954	MEGF8	OMIM:614976
HP:0030044	Flexion contracture of digit	23314	SATB2	OMIM:612313
HP:0030044	Flexion contracture of digit	2752	GLUL	OMIM:610015
HP:0030044	Flexion contracture of digit	8642	DCHS1	OMIM:601390
HP:0030044	Flexion contracture of digit	8642	DCHS1	ORPHA:314679
HP:0030044	Flexion contracture of digit	79053	ALG8	OMIM:608104
HP:0030044	Flexion contracture of digit	79053	ALG8	ORPHA:79325
HP:0030044	Flexion contracture of digit	26227	PHGDH	OMIM:256520
HP:0030044	Flexion contracture of digit	57167	SALL4	ORPHA:233
HP:0030044	Flexion contracture of digit	9935	MAFB	ORPHA:233
HP:0030044	Flexion contracture of digit	1123	CHN1	ORPHA:233
HP:0030044	Flexion contracture of digit	2074	ERCC6	OMIM:214150
HP:0030044	Flexion contracture of digit	1798	DPAGT1	ORPHA:86309
HP:0030044	Flexion contracture of digit	3572	IL6ST	OMIM:619751
HP:0030044	Flexion contracture of digit	54880	BCOR	OMIM:309800
HP:0030044	Flexion contracture of digit	8260	NAA10	OMIM:309800
HP:0030044	Flexion contracture of digit	23512	SUZ12	OMIM:618786
HP:0030044	Flexion contracture of digit	7862	BRPF1	OMIM:617333
HP:0030044	Flexion contracture of digit	1001	CDH3	OMIM:225280
HP:0030044	Flexion contracture of digit	79633	FAT4	OMIM:616006
HP:0030044	Flexion contracture of digit	79633	FAT4	ORPHA:314679
HP:0030044	Flexion contracture of digit	5828	PEX2	OMIM:614866
HP:0030044	Flexion contracture of digit	79228	THOC6	ORPHA:363444
HP:0030044	Flexion contracture of digit	4094	MAF	ORPHA:1272
HP:0030044	Flexion contracture of digit	4094	MAF	OMIM:601088
HP:0030044	Flexion contracture of digit	4089	SMAD4	OMIM:139210
HP:0030044	Flexion contracture of digit	8838	CCN6	ORPHA:1159
HP:0030044	Flexion contracture of digit	163175	LGI4	OMIM:617468
HP:0030044	Flexion contracture of digit	7140	TNNT3	OMIM:618435
HP:0030044	Flexion contracture of digit	9968	MED12	OMIM:305450
HP:0030044	Flexion contracture of digit	388015	RTL1	ORPHA:96334
HP:0030044	Flexion contracture of digit	388015	RTL1	ORPHA:254528
HP:0030044	Flexion contracture of digit	8788	DLK1	ORPHA:96334
HP:0030044	Flexion contracture of digit	8788	DLK1	ORPHA:254528
HP:0030044	Flexion contracture of digit	55384	MEG3	ORPHA:96334
HP:0030044	Flexion contracture of digit	55384	MEG3	ORPHA:254528
HP:0030044	Flexion contracture of digit	3239	HOXD13	OMIM:610713
HP:0030044	Flexion contracture of digit	11107	PRDM5	ORPHA:90354
HP:0030044	Flexion contracture of digit	84627	ZNF469	ORPHA:90354
HP:0030044	Flexion contracture of digit	8626	TP63	OMIM:603543
HP:0030044	Flexion contracture of digit	4920	ROR2	OMIM:268310
HP:0030044	Flexion contracture of digit	4920	ROR2	OMIM:113000
HP:0030044	Flexion contracture of digit	63895	PIEZO2	OMIM:248700
HP:0030044	Flexion contracture of digit	63895	PIEZO2	OMIM:617146
HP:0030044	Flexion contracture of digit	8813	DPM1	OMIM:608799
HP:0030044	Flexion contracture of digit	8813	DPM1	ORPHA:79322
HP:0030044	Flexion contracture of digit	23483	TGDS	OMIM:616145
HP:0030044	Flexion contracture of digit	4088	SMAD3	OMIM:613795
HP:0030044	Flexion contracture of digit	25836	NIPBL	OMIM:122470
HP:0030044	Flexion contracture of digit	4087	SMAD2	OMIM:619656
HP:0030044	Flexion contracture of digit	2146	EZH2	OMIM:277590
HP:0030044	Flexion contracture of digit	7048	TGFBR2	OMIM:610168
HP:0030044	Flexion contracture of digit	4733	DRG1	OMIM:620641
HP:0030044	Flexion contracture of digit	147372	CCBE1	OMIM:235510
HP:0030044	Flexion contracture of digit	79087	ALG12	ORPHA:79324
HP:0030044	Flexion contracture of digit	257	ALX3	OMIM:136760
HP:0030044	Flexion contracture of digit	7546	ZIC2	OMIM:609637
HP:0030044	Flexion contracture of digit	171023	ASXL1	OMIM:605039
HP:0030044	Flexion contracture of digit	26100	WIPI2	OMIM:618453
HP:0030044	Flexion contracture of digit	8621	CDK13	OMIM:617360
HP:0030044	Flexion contracture of digit	9427	ECEL1	OMIM:615065
HP:0030044	Flexion contracture of digit	22930	RAB3GAP1	OMIM:619420
HP:0030044	Flexion contracture of digit	2703	GJA8	OMIM:612474
HP:0030044	Flexion contracture of digit	2702	GJA5	OMIM:612474
HP:0030044	Flexion contracture of digit	7046	TGFBR1	OMIM:609192
HP:0030044	Flexion contracture of digit	10664	CTCF	OMIM:615502
HP:0030044	Flexion contracture of digit	27145	FILIP1	OMIM:620775
HP:0030044	Flexion contracture of digit	1801	DPH1	ORPHA:459061
HP:0030044	Flexion contracture of digit	1802	DPH2	ORPHA:459061
HP:0030044	Flexion contracture of digit	10075	HUWE1	OMIM:309590
HP:0030044	Flexion contracture of digit	2260	FGFR1	ORPHA:432
HP:0030044	Flexion contracture of digit	81848	SPRY4	ORPHA:432
HP:0030044	Flexion contracture of digit	128674	PROKR2	ORPHA:432
HP:0030044	Flexion contracture of digit	2253	FGF8	ORPHA:432
HP:0030044	Flexion contracture of digit	60675	PROK2	ORPHA:432
HP:0030044	Flexion contracture of digit	55636	CHD7	ORPHA:432
HP:0030044	Flexion contracture of digit	6870	TACR3	ORPHA:432
HP:0030044	Flexion contracture of digit	1848	DUSP6	ORPHA:432
HP:0030044	Flexion contracture of digit	26012	NSMF	ORPHA:432
HP:0030044	Flexion contracture of digit	55717	WDR11	ORPHA:432
HP:0030044	Flexion contracture of digit	4808	NHLH2	ORPHA:432
HP:0030044	Flexion contracture of digit	9394	HS6ST1	ORPHA:432
HP:0030044	Flexion contracture of digit	2796	GNRH1	ORPHA:432
HP:0030044	Flexion contracture of digit	2798	GNRHR	ORPHA:432
HP:0030044	Flexion contracture of digit	84634	KISS1R	ORPHA:432
HP:0030044	Flexion contracture of digit	6866	TAC3	ORPHA:432
HP:0030044	Flexion contracture of digit	8822	FGF17	ORPHA:432
HP:0030044	Flexion contracture of digit	3814	KISS1	ORPHA:432
HP:0030044	Flexion contracture of digit	23111	SPART	OMIM:275900
HP:0030044	Flexion contracture of digit	2245	FGD1	OMIM:305400
HP:0030044	Flexion contracture of digit	8243	SMC1A	OMIM:301044
HP:0030044	Flexion contracture of digit	1281	COL3A1	OMIM:618343
HP:0030044	Flexion contracture of digit	9158	FIBP	ORPHA:500095
HP:0030044	Flexion contracture of digit	6885	MAP3K7	OMIM:617137
HP:0030044	Flexion contracture of digit	91179	SCARF2	OMIM:600920
HP:0030044	Flexion contracture of digit	117581	TWIST2	OMIM:200110
HP:0030044	Flexion contracture of digit	84162	BLTP1	OMIM:617822
HP:0030044	Flexion contracture of digit	2263	FGFR2	OMIM:207410
HP:0030044	Flexion contracture of digit	998	CDC42	OMIM:616737
HP:0030044	Flexion contracture of digit	998	CDC42	ORPHA:487796
HP:0030044	Flexion contracture of digit	54808	DYM	OMIM:223800
HP:0030044	Flexion contracture of digit	2239	GPC4	OMIM:301026
HP:0030044	Flexion contracture of digit	28982	FLVCR1	ORPHA:88628
HP:0030044	Flexion contracture of digit	28982	FLVCR1	OMIM:609033
HP:0030044	Flexion contracture of digit	56915	EXOSC5	OMIM:619576
HP:0030044	Flexion contracture of digit	55906	ZC4H2	OMIM:314580
HP:0030044	Flexion contracture of digit	4998	ORC1	OMIM:224690
HP:0030044	Flexion contracture of digit	92255	LMBRD2	OMIM:619694
HP:0030044	Flexion contracture of digit	2316	FLNA	ORPHA:88630
HP:0030044	Flexion contracture of digit	23511	NUP188	OMIM:618804
HP:0030044	Flexion contracture of digit	92344	GORAB	OMIM:231070
HP:0030044	Flexion contracture of digit	29940	DSE	OMIM:615539
HP:0030044	Flexion contracture of digit	23389	MED13L	ORPHA:369891
HP:0030044	Flexion contracture of digit	91647	ATPAF2	OMIM:604273
HP:0030044	Flexion contracture of digit	727857	BHLHA9	OMIM:607539
HP:0030044	Flexion contracture of digit	10943	MSL3	OMIM:301032
HP:0030044	Flexion contracture of digit	633	BGN	OMIM:300989
HP:0030044	Flexion contracture of digit	84342	COG8	OMIM:611182
HP:0030044	Flexion contracture of digit	79576	NKAP	OMIM:301039
HP:0030044	Flexion contracture of digit	5277	PIGA	OMIM:300868
HP:0030044	Flexion contracture of digit	84896	ATAD1	OMIM:618011
HP:0030044	Flexion contracture of digit	25	ABL1	OMIM:617602
HP:0030044	Flexion contracture of digit	4604	MYBPC1	OMIM:614335
HP:0030044	Flexion contracture of digit	5000	ORC4	OMIM:613800
HP:0030044	Flexion contracture of digit	3930	LBR	OMIM:618019
HP:0030044	Flexion contracture of digit	54551	MAGEL2	OMIM:615547
HP:0030044	Flexion contracture of digit	9244	CRLF1	OMIM:272430
HP:0030044	Flexion contracture of digit	55644	OSGEP	OMIM:617729
HP:0030044	Flexion contracture of digit	26040	SETBP1	ORPHA:798
HP:0030044	Flexion contracture of digit	6611	SMS	ORPHA:3063
HP:0030044	Flexion contracture of digit	55975	KLHL7	OMIM:617055
HP:0030044	Flexion contracture of digit	1861	TOR1A	OMIM:618947
HP:0030044	Flexion contracture of digit	246329	STAC3	ORPHA:168572
HP:0030044	Flexion contracture of digit	4927	NUP88	OMIM:618393
HP:0030044	Flexion contracture of digit	6134	RPL10	ORPHA:435938
HP:0030044	Flexion contracture of digit	285590	SH3PXD2B	OMIM:249420
HP:0030044	Flexion contracture of digit	51715	RAB23	OMIM:201000
HP:0030044	Flexion contracture of digit	1857	DVL3	OMIM:616894
HP:0030044	Flexion contracture of digit	83737	ITCH	OMIM:613385
HP:0030044	Flexion contracture of digit	83737	ITCH	ORPHA:228426
HP:0030044	Flexion contracture of digit	28952	CCDC22	OMIM:300963
HP:0030044	Flexion contracture of digit	90416	CCDC32	OMIM:619123
HP:0030044	Flexion contracture of digit	2273	FHL1	OMIM:300280
HP:0030044	Flexion contracture of digit	7169	TPM2	OMIM:108120
HP:0030044	Flexion contracture of digit	6497	SKI	OMIM:182212
HP:0030044	Flexion contracture of digit	342035	GLDN	OMIM:617194
HP:0030044	Flexion contracture of digit	10084	PQBP1	OMIM:309500
HP:0030044	Flexion contracture of digit	9487	PIGL	OMIM:280000
HP:0030044	Flexion contracture of digit	3868	KRT16	ORPHA:2199
HP:0030044	Flexion contracture of digit	3857	KRT9	ORPHA:2199
HP:0030044	Flexion contracture of digit	3848	KRT1	ORPHA:2199
HP:0030044	Flexion contracture of digit	6913	TBX15	OMIM:260660
HP:0030044	Flexion contracture of digit	2036	EPB41L1	OMIM:614257
HP:0030044	Flexion contracture of digit	523	ATP6V1A	OMIM:617403
HP:0030044	Flexion contracture of digit	529	ATP6V1E1	OMIM:617402
HP:0030044	Flexion contracture of digit	4233	MET	OMIM:620019
HP:0030044	Flexion contracture of digit	170302	ARX	OMIM:309510
HP:0030044	Flexion contracture of digit	26123	TCTN3	OMIM:614815
HP:0030044	Flexion contracture of digit	64065	PERP	OMIM:619208
HP:0030044	Flexion contracture of digit	56916	SMARCAD1	OMIM:129200
HP:0030044	Flexion contracture of digit	5528	PPP2R5D	ORPHA:457279
HP:0030044	Flexion contracture of digit	2218	FKTN	ORPHA:272
HP:0030044	Flexion contracture of digit	8294	H4C9	OMIM:619951
HP:0030044	Flexion contracture of digit	3094	HINT1	ORPHA:324442
HP:0030044	Flexion contracture of digit	1947	EFNB1	ORPHA:1520
HP:0030044	Flexion contracture of digit	7355	SLC35A2	ORPHA:356961
HP:0030044	Flexion contracture of digit	118429	ANTXR2	ORPHA:2176
HP:0030044	Flexion contracture of digit	5077	PAX3	ORPHA:1529
HP:0030044	Flexion contracture of digit	5077	PAX3	ORPHA:896
HP:0030044	Flexion contracture of digit	5077	PAX3	OMIM:148820
HP:0030044	Flexion contracture of digit	9241	NOG	ORPHA:3250
HP:0030044	Flexion contracture of digit	8200	GDF5	ORPHA:3250
HP:0030044	Flexion contracture of digit	54968	TMEM70	ORPHA:1194
HP:0030044	Flexion contracture of digit	613	BCR	ORPHA:261330
HP:0030044	Flexion contracture of digit	1399	CRKL	ORPHA:261330
HP:0030044	Flexion contracture of digit	5594	MAPK1	ORPHA:261330
HP:0030044	Flexion contracture of digit	84466	MEGF10	OMIM:614399
HP:0030044	Flexion contracture of digit	72	ACTG2	ORPHA:2604
HP:0030044	Flexion contracture of digit	3508	IGHMBP2	OMIM:604320
HP:0030044	Flexion contracture of digit	6926	TBX3	ORPHA:3138
HP:0030044	Flexion contracture of digit	51360	MBTPS2	ORPHA:2273
HP:0030044	Flexion contracture of digit	10381	TUBB3	OMIM:600638
HP:0030044	Flexion contracture of digit	9469	CHST3	OMIM:143095
HP:0030044	Flexion contracture of digit	3423	IDS	ORPHA:217085
HP:0030044	Flexion contracture of digit	3423	IDS	ORPHA:217093
HP:0030044	Flexion contracture of digit	2697	GJA1	ORPHA:2710
HP:0030044	Flexion contracture of digit	2697	GJA1	ORPHA:93404
HP:0030044	Flexion contracture of digit	6999	TDO2	OMIM:600627
HP:0030044	Flexion contracture of digit	1302	COL11A2	ORPHA:2021
HP:0030044	Flexion contracture of digit	4929	NR4A2	ORPHA:1617
HP:0030044	Flexion contracture of digit	10716	TBR1	ORPHA:1617
HP:0030044	Flexion contracture of digit	3425	IDUA	OMIM:607015
HP:0030044	Flexion contracture of digit	3425	IDUA	ORPHA:93473
HP:0030044	Flexion contracture of digit	4593	MUSK	OMIM:208150
HP:0030044	Flexion contracture of digit	4593	MUSK	ORPHA:994
HP:0030044	Flexion contracture of digit	56006	SMG9	OMIM:616920
HP:0030044	Flexion contracture of digit	7474	WNT5A	ORPHA:3107
HP:0030044	Flexion contracture of digit	2535	FZD2	ORPHA:3107
HP:0030044	Flexion contracture of digit	9508	ADAMTS3	ORPHA:2136
HP:0030044	Flexion contracture of digit	5189	PEX1	ORPHA:3220
HP:0030044	Flexion contracture of digit	5190	PEX6	ORPHA:3220
HP:0030044	Flexion contracture of digit	5590	PRKCZ	ORPHA:1606
HP:0030044	Flexion contracture of digit	2563	GABRD	ORPHA:1606
HP:0030044	Flexion contracture of digit	23013	SPEN	ORPHA:1606
HP:0030044	Flexion contracture of digit	8510	MMP23B	ORPHA:1606
HP:0030044	Flexion contracture of digit	7798	LUZP1	ORPHA:1606
HP:0030044	Flexion contracture of digit	10630	PDPN	ORPHA:1606
HP:0030044	Flexion contracture of digit	10277	UBE4B	ORPHA:1606
HP:0030044	Flexion contracture of digit	8514	KCNAB2	ORPHA:1606
HP:0030044	Flexion contracture of digit	473	RERE	ORPHA:1606
HP:0030044	Flexion contracture of digit	63976	PRDM16	ORPHA:1606
HP:0030044	Flexion contracture of digit	54897	CASZ1	ORPHA:1606
HP:0030044	Flexion contracture of digit	9719	ADAMTSL2	OMIM:231050
HP:0030044	Flexion contracture of digit	4952	OCRL	OMIM:309000
HP:0030044	Flexion contracture of digit	8517	IKBKG	ORPHA:464
HP:0030044	Flexion contracture of digit	10436	EMG1	ORPHA:1270
HP:0030044	Flexion contracture of digit	57492	ARID1B	ORPHA:251056
HP:0030044	Flexion contracture of digit	11128	POLR3A	ORPHA:3455
HP:0030044	Flexion contracture of digit	2719	GPC3	ORPHA:373
HP:0030044	Flexion contracture of digit	55612	FERMT1	ORPHA:2908
HP:0030044	Flexion contracture of digit	7136	TNNI2	ORPHA:1146
HP:0030044	Flexion contracture of digit	7136	TNNI2	OMIM:601680
HP:0030044	Flexion contracture of digit	64324	NSD1	ORPHA:3447
HP:0030044	Flexion contracture of digit	1723	DHODH	ORPHA:246
HP:0030044	Flexion contracture of digit	54903	MKS1	OMIM:249000
HP:0030044	Flexion contracture of digit	91252	SLC39A13	OMIM:612350
HP:0030044	Flexion contracture of digit	10526	IPO8	ORPHA:60030
HP:0030044	Flexion contracture of digit	7042	TGFB2	ORPHA:60030
HP:0030044	Flexion contracture of digit	3897	L1CAM	ORPHA:2466
HP:0030044	Flexion contracture of digit	7227	TRPS1	ORPHA:77258
HP:0030044	Flexion contracture of digit	27238	GPKOW	ORPHA:2570
HP:0030044	Flexion contracture of digit	10466	COG5	ORPHA:263487
HP:0030044	Flexion contracture of digit	2068	ERCC2	OMIM:610756
HP:0030044	Flexion contracture of digit	2068	ERCC2	ORPHA:1466
HP:0030044	Flexion contracture of digit	51114	ZDHHC9	ORPHA:776
HP:0030044	Flexion contracture of digit	65109	UPF3B	ORPHA:776
HP:0030044	Flexion contracture of digit	114548	NLRP3	ORPHA:575
HP:0030044	Flexion contracture of digit	2073	ERCC5	ORPHA:1466
HP:0030044	Flexion contracture of digit	134701	RIPPLY2	ORPHA:2311
HP:0030044	Flexion contracture of digit	10683	DLL3	ORPHA:2311
HP:0030044	Flexion contracture of digit	3955	LFNG	ORPHA:2311
HP:0030044	Flexion contracture of digit	84667	HES7	ORPHA:2311
HP:0030044	Flexion contracture of digit	145873	MESP2	ORPHA:2311
HP:0030044	Flexion contracture of digit	81620	CDT1	ORPHA:2554
HP:0030044	Flexion contracture of digit	23594	ORC6	ORPHA:2554
HP:0030044	Flexion contracture of digit	8318	CDC45	ORPHA:2554
HP:0030044	Flexion contracture of digit	990	CDC6	ORPHA:2554
HP:0030044	Flexion contracture of digit	51053	GMNN	ORPHA:2554
HP:0030044	Flexion contracture of digit	64327	LMBR1	ORPHA:93405
HP:0030044	Flexion contracture of digit	6469	SHH	ORPHA:93405
HP:0030044	Flexion contracture of digit	55605	KIF21A	ORPHA:994
HP:0030044	Flexion contracture of digit	7846	TUBA1A	ORPHA:994
HP:0030044	Flexion contracture of digit	4654	MYOD1	ORPHA:994
HP:0030044	Flexion contracture of digit	5913	RAPSN	ORPHA:994
HP:0030044	Flexion contracture of digit	6572	SLC18A3	ORPHA:994
HP:0030044	Flexion contracture of digit	285489	DOK7	ORPHA:994
HP:0030044	Flexion contracture of digit	3914	LAMB3	OMIM:226650
HP:0030044	Flexion contracture of digit	8092	ALX1	ORPHA:306542
HP:0030044	Flexion contracture of digit	64840	PORCN	ORPHA:2092
HP:0030044	Flexion contracture of digit	23443	SLC35A3	OMIM:615553
HP:0030044	Flexion contracture of digit	25914	RTTN	ORPHA:468631
HP:0030044	Flexion contracture of digit	8450	CUL4B	ORPHA:85293
HP:0030044	Flexion contracture of digit	1303	COL12A1	ORPHA:610
HP:0030044	Flexion contracture of digit	1291	COL6A1	ORPHA:610
HP:0030044	Flexion contracture of digit	1291	COL6A1	OMIM:158810
HP:0030044	Flexion contracture of digit	1292	COL6A2	ORPHA:610
HP:0030044	Flexion contracture of digit	1293	COL6A3	ORPHA:610
HP:0030044	Flexion contracture of digit	26092	TOR1AIP1	OMIM:617072
HP:0030044	Flexion contracture of digit	8242	KDM5C	ORPHA:85279
HP:0030044	Flexion contracture of digit	59341	TRPV4	ORPHA:2635
HP:0030044	Flexion contracture of digit	10269	ZMPSTE24	ORPHA:1662
HP:0030044	Flexion contracture of digit	23522	KAT6B	ORPHA:3047
HP:0030044	Flexion contracture of digit	64131	XYLT1	ORPHA:1425
HP:0030044	Flexion contracture of digit	124583	CANT1	ORPHA:1425
HP:0030044	Flexion contracture of digit	55790	CSGALNACT1	ORPHA:1425
HP:0030044	Flexion contracture of digit	23529	CLCF1	ORPHA:1545
HP:0030044	Flexion contracture of digit	79693	YRDC	ORPHA:2065
HP:0030044	Flexion contracture of digit	51002	TPRKB	ORPHA:2065
HP:0030044	Flexion contracture of digit	57122	NUP107	ORPHA:2065
HP:0030044	Flexion contracture of digit	10785	WDR4	ORPHA:2065
HP:0030044	Flexion contracture of digit	55746	NUP133	ORPHA:2065
HP:0030044	Flexion contracture of digit	84520	GON7	ORPHA:2065
HP:0030044	Flexion contracture of digit	112858	TP53RK	ORPHA:2065
HP:0030044	Flexion contracture of digit	8270	LAGE3	ORPHA:2065
HP:0030054	Perifollicular fibrosis	51360	MBTPS2	OMIM:308800
HP:0030090	Abnormal muscle fiber merosin expression	57190	SELENON	ORPHA:324604
HP:0030090	Abnormal muscle fiber merosin expression	4625	MYH7	ORPHA:324604
HP:0030090	Abnormal muscle fiber merosin expression	7273	TTN	ORPHA:324604
HP:0030090	Abnormal muscle fiber merosin expression	3908	LAMA2	ORPHA:258
HP:0030090	Abnormal muscle fiber merosin expression	79147	FKRP	ORPHA:34515
HP:0030091	Absent muscle fiber merosin	57190	SELENON	ORPHA:324604
HP:0030091	Absent muscle fiber merosin	4625	MYH7	ORPHA:324604
HP:0030091	Absent muscle fiber merosin	7273	TTN	ORPHA:324604
HP:0030091	Absent muscle fiber merosin	3908	LAMA2	ORPHA:258
HP:0030092	Reduced muscle fiber merosin	79147	FKRP	ORPHA:34515
HP:0030095	Reduced muscle collagen VI	1292	COL6A2	OMIM:620727
HP:0030095	Reduced muscle collagen VI	1292	COL6A2	ORPHA:610
HP:0030095	Reduced muscle collagen VI	1291	COL6A1	OMIM:254090
HP:0030095	Reduced muscle collagen VI	1291	COL6A1	ORPHA:610
HP:0030095	Reduced muscle collagen VI	1303	COL12A1	ORPHA:610
HP:0030095	Reduced muscle collagen VI	1293	COL6A3	ORPHA:610
HP:0030096	Abnormal muscle fiber dystrophin expression	1756	DMD	ORPHA:206546
HP:0030097	Absent muscle dystrophin expression	1756	DMD	ORPHA:206546
HP:0030099	Reduced muscle fiber alpha dystroglycan	29925	GMPPB	ORPHA:370968
HP:0030099	Reduced muscle fiber alpha dystroglycan	29925	GMPPB	ORPHA:370959
HP:0030099	Reduced muscle fiber alpha dystroglycan	79147	FKRP	ORPHA:370968
HP:0030099	Reduced muscle fiber alpha dystroglycan	79147	FKRP	ORPHA:370959
HP:0030099	Reduced muscle fiber alpha dystroglycan	79147	FKRP	ORPHA:34515
HP:0030099	Reduced muscle fiber alpha dystroglycan	79147	FKRP	ORPHA:370980
HP:0030099	Reduced muscle fiber alpha dystroglycan	29954	POMT2	ORPHA:370968
HP:0030099	Reduced muscle fiber alpha dystroglycan	29954	POMT2	ORPHA:370959
HP:0030099	Reduced muscle fiber alpha dystroglycan	29954	POMT2	ORPHA:206559
HP:0030099	Reduced muscle fiber alpha dystroglycan	9215	LARGE1	ORPHA:370968
HP:0030099	Reduced muscle fiber alpha dystroglycan	10585	POMT1	ORPHA:370968
HP:0030099	Reduced muscle fiber alpha dystroglycan	10585	POMT1	ORPHA:370959
HP:0030099	Reduced muscle fiber alpha dystroglycan	10585	POMT1	ORPHA:370980
HP:0030099	Reduced muscle fiber alpha dystroglycan	84197	POMK	ORPHA:370959
HP:0030099	Reduced muscle fiber alpha dystroglycan	55624	POMGNT1	ORPHA:370959
HP:0030099	Reduced muscle fiber alpha dystroglycan	1605	DAG1	ORPHA:280333
HP:0030099	Reduced muscle fiber alpha dystroglycan	2218	FKTN	ORPHA:370980
HP:0030099	Reduced muscle fiber alpha dystroglycan	729920	CRPPA	ORPHA:370980
HP:0030099	Reduced muscle fiber alpha dystroglycan	3156	HMGCR	OMIM:620375
HP:0030053	Stiff skin	51816	ADA2	OMIM:615688
HP:0030053	Stiff skin	4000	LMNA	ORPHA:1662
HP:0030053	Stiff skin	10269	ZMPSTE24	ORPHA:1662
HP:0030053	Stiff skin	55315	SLC29A3	ORPHA:168569
HP:0030053	Stiff skin	5696	PSMB8	OMIM:256040
HP:0030053	Stiff skin	4089	SMAD4	OMIM:139210
HP:0030053	Stiff skin	2200	FBN1	OMIM:184900
HP:0030052	Inguinal freckling	4763	NF1	OMIM:601321
HP:0030052	Inguinal freckling	4763	NF1	OMIM:162200
HP:0030052	Inguinal freckling	4763	NF1	OMIM:193520
HP:0030052	Inguinal freckling	4763	NF1	ORPHA:363700
HP:0030052	Inguinal freckling	161742	SPRED1	OMIM:611431
HP:0030052	Inguinal freckling	161742	SPRED1	ORPHA:137605
HP:0030052	Inguinal freckling	56983	POGLUT1	ORPHA:79145
HP:0030052	Inguinal freckling	3852	KRT5	ORPHA:79145
HP:0030052	Inguinal freckling	23509	POFUT1	ORPHA:79145
HP:0030052	Inguinal freckling	55851	PSENEN	ORPHA:79145
HP:0030052	Inguinal freckling	4771	NF2	OMIM:101000
HP:0030051	Tip-toe gait	6445	SGCG	ORPHA:353
HP:0030051	Tip-toe gait	10749	KIF1C	ORPHA:397946
HP:0030051	Tip-toe gait	51062	ATL1	ORPHA:100984
HP:0030051	Tip-toe gait	113612	CYP2U1	OMIM:615030
HP:0030051	Tip-toe gait	113612	CYP2U1	ORPHA:320411
HP:0030051	Tip-toe gait	8367	H4C5	OMIM:619950
HP:0030051	Tip-toe gait	57498	KIDINS220	OMIM:617296
HP:0030051	Tip-toe gait	410	ARSA	ORPHA:309256
HP:0030051	Tip-toe gait	5660	PSAP	ORPHA:309256
HP:0030051	Tip-toe gait	2200	FBN1	OMIM:614185
HP:0030051	Tip-toe gait	23516	SLC39A14	OMIM:617013
HP:0030051	Tip-toe gait	6711	SPTBN1	OMIM:619475
HP:0030051	Tip-toe gait	7415	VCP	ORPHA:435387
HP:0030051	Tip-toe gait	4010	LMX1B	ORPHA:2614
HP:0030051	Tip-toe gait	8291	DYSF	OMIM:254130
HP:0030051	Tip-toe gait	8291	DYSF	ORPHA:268
HP:0030051	Tip-toe gait	8291	DYSF	ORPHA:45448
HP:0030051	Tip-toe gait	1756	DMD	OMIM:310200
HP:0030051	Tip-toe gait	1756	DMD	ORPHA:98895
HP:0030051	Tip-toe gait	3032	HADHB	ORPHA:746
HP:0030051	Tip-toe gait	3030	HADHA	ORPHA:746
HP:0030051	Tip-toe gait	7138	TNNT1	OMIM:620389
HP:0030051	Tip-toe gait	6442	SGCA	ORPHA:62
HP:0030051	Tip-toe gait	1303	COL12A1	ORPHA:536516
HP:0030051	Tip-toe gait	10613	ERLIN1	ORPHA:401785
HP:0030051	Tip-toe gait	10613	ERLIN1	OMIM:615681
HP:0030051	Tip-toe gait	825	CAPN3	ORPHA:267
HP:0030051	Tip-toe gait	2521	FUS	ORPHA:300605
HP:0030051	Tip-toe gait	80208	SPG11	ORPHA:300605
HP:0030051	Tip-toe gait	80208	SPG11	OMIM:604360
HP:0030051	Tip-toe gait	10280	SIGMAR1	ORPHA:300605
HP:0030051	Tip-toe gait	10558	SPTLC1	ORPHA:300605
HP:0030051	Tip-toe gait	10558	SPTLC1	OMIM:620285
HP:0030051	Tip-toe gait	57679	ALS2	ORPHA:300605
HP:0030051	Tip-toe gait	57679	ALS2	OMIM:205100
HP:0030051	Tip-toe gait	9131	AIFM1	ORPHA:83629
HP:0030051	Tip-toe gait	80347	COASY	OMIM:615643
HP:0030051	Tip-toe gait	10157	AASS	ORPHA:2203
HP:0030051	Tip-toe gait	22880	MORC2	ORPHA:466768
HP:0030051	Tip-toe gait	9409	PEX16	OMIM:614877
HP:0030051	Tip-toe gait	60482	SLC5A7	ORPHA:98914
HP:0030051	Tip-toe gait	4649	MYO9A	ORPHA:98914
HP:0030051	Tip-toe gait	1305	COL13A1	ORPHA:98914
HP:0030051	Tip-toe gait	1103	CHAT	ORPHA:98914
HP:0030051	Tip-toe gait	6576	SLC25A1	ORPHA:98914
HP:0030051	Tip-toe gait	6843	VAMP1	ORPHA:98914
HP:0030051	Tip-toe gait	375790	AGRN	ORPHA:98914
HP:0030051	Tip-toe gait	127833	SYT2	ORPHA:98914
HP:0030051	Tip-toe gait	6572	SLC18A3	ORPHA:98914
HP:0030051	Tip-toe gait	6616	SNAP25	ORPHA:98914
HP:0030051	Tip-toe gait	3035	HARS1	ORPHA:488333
HP:0030051	Tip-toe gait	2314	FLII	ORPHA:819
HP:0030051	Tip-toe gait	23096	IQSEC2	ORPHA:819
HP:0030051	Tip-toe gait	10743	RAI1	ORPHA:819
HP:0030051	Tip-toe gait	10522	DEAF1	ORPHA:819
HP:0030051	Tip-toe gait	10522	DEAF1	ORPHA:468620
HP:0030051	Tip-toe gait	90678	LRSAM1	OMIM:614436
HP:0030051	Tip-toe gait	3736	KCNA1	ORPHA:37612
HP:0030051	Tip-toe gait	79158	GNPTAB	OMIM:252500
HP:0030051	Tip-toe gait	79147	FKRP	OMIM:607155
HP:0030051	Tip-toe gait	79147	FKRP	OMIM:606612
HP:0030051	Tip-toe gait	79147	FKRP	ORPHA:370980
HP:0030051	Tip-toe gait	4625	MYH7	OMIM:160500
HP:0030051	Tip-toe gait	23299	BICD2	OMIM:615290
HP:0030051	Tip-toe gait	84340	GFM2	ORPHA:565624
HP:0030051	Tip-toe gait	339855	KY	ORPHA:496689
HP:0030051	Tip-toe gait	84665	MYPN	ORPHA:171881
HP:0030051	Tip-toe gait	7169	TPM2	ORPHA:171881
HP:0030051	Tip-toe gait	7169	TPM2	OMIM:609285
HP:0030051	Tip-toe gait	7170	TPM3	ORPHA:171881
HP:0030051	Tip-toe gait	7528	YY1	OMIM:617557
HP:0030051	Tip-toe gait	1778	DYNC1H1	OMIM:614563
HP:0030051	Tip-toe gait	23259	DDHD2	ORPHA:320380
HP:0030051	Tip-toe gait	122622	ADSS1	ORPHA:482601
HP:0030051	Tip-toe gait	81846	SBF2	ORPHA:99956
HP:0030051	Tip-toe gait	11145	PLAAT3	OMIM:620683
HP:0030051	Tip-toe gait	4556	MT-TE	ORPHA:2596
HP:0030051	Tip-toe gait	2273	FHL1	ORPHA:98863
HP:0030051	Tip-toe gait	2010	EMD	ORPHA:98863
HP:0030051	Tip-toe gait	11011	TLK2	OMIM:618050
HP:0030051	Tip-toe gait	5832	ALDH18A1	ORPHA:447760
HP:0030051	Tip-toe gait	55181	SMG8	OMIM:619268
HP:0030051	Tip-toe gait	5297	PI4KA	OMIM:619621
HP:0030051	Tip-toe gait	9757	KMT2B	OMIM:617284
HP:0030051	Tip-toe gait	80025	PANK2	ORPHA:216866
HP:0030051	Tip-toe gait	22978	NT5C2	OMIM:613162
HP:0030051	Tip-toe gait	1291	COL6A1	OMIM:158810
HP:0030051	Tip-toe gait	2705	GJB1	OMIM:302800
HP:0030051	Tip-toe gait	51763	INPP5K	OMIM:617404
HP:0030051	Tip-toe gait	2583	B4GALNT1	OMIM:609195
HP:0030051	Tip-toe gait	51308	REEP2	OMIM:615625
HP:0030051	Tip-toe gait	2783	GNB2	OMIM:619503
HP:0030051	Tip-toe gait	2218	FKTN	ORPHA:370980
HP:0030051	Tip-toe gait	729920	CRPPA	ORPHA:370980
HP:0030051	Tip-toe gait	10585	POMT1	ORPHA:370980
HP:0030051	Tip-toe gait	4000	LMNA	ORPHA:98855
HP:0030051	Tip-toe gait	4000	LMNA	ORPHA:98853
HP:0030051	Tip-toe gait	9907	AP5Z1	OMIM:613647
HP:0030051	Tip-toe gait	9531	BAG3	OMIM:612954
HP:0030051	Tip-toe gait	50640	PNPLA8	OMIM:251950
HP:0030051	Tip-toe gait	6874	TAF4	OMIM:620450
HP:0030051	Tip-toe gait	79188	TMEM43	ORPHA:98853
HP:0030051	Tip-toe gait	23345	SYNE1	ORPHA:98853
HP:0030051	Tip-toe gait	23224	SYNE2	ORPHA:98853
HP:0030050	Narcolepsy	3060	HCRT	OMIM:161400
HP:0030050	Narcolepsy	1786	DNMT1	ORPHA:314404
HP:0030050	Narcolepsy	1786	DNMT1	OMIM:604121
HP:0030050	Narcolepsy	4340	MOG	OMIM:614250
HP:0033303	Elevated urinary monocarboxylic acid level	4716	NDUFB10	OMIM:619003
HP:0033303	Elevated urinary monocarboxylic acid level	7915	ALDH5A1	OMIM:271980
HP:0033303	Elevated urinary monocarboxylic acid level	3081	HGD	ORPHA:56
HP:0033303	Elevated urinary monocarboxylic acid level	3081	HGD	OMIM:203500
HP:0033303	Elevated urinary monocarboxylic acid level	3158	HMGCS2	OMIM:605911
HP:0033303	Elevated urinary monocarboxylic acid level	763	CA5A	OMIM:615751
HP:0033303	Elevated urinary monocarboxylic acid level	34	ACADM	ORPHA:42
HP:0033303	Elevated urinary monocarboxylic acid level	4329	ALDH6A1	OMIM:614105
HP:0033303	Elevated urinary monocarboxylic acid level	5019	OXCT1	OMIM:245050
HP:0033303	Elevated urinary monocarboxylic acid level	26235	FBXL4	OMIM:615471
HP:0033303	Elevated urinary monocarboxylic acid level	593	BCKDHA	OMIM:248600
HP:0033303	Elevated urinary monocarboxylic acid level	189	AGXT	OMIM:259900
HP:0033303	Elevated urinary monocarboxylic acid level	51733	UPB1	OMIM:613161
HP:0003607	4-hydroxyphenylacetic aciduria	3242	HPD	OMIM:276710
HP:0003607	4-hydroxyphenylacetic aciduria	3242	HPD	OMIM:140350
HP:0003607	4-hydroxyphenylacetic aciduria	3242	HPD	ORPHA:2118
HP:0003607	4-hydroxyphenylacetic aciduria	7019	TFAM	OMIM:617156
HP:0033308	Patellar overgrowth	114548	NLRP3	OMIM:607115
HP:0033309	Ileoileal intussusception	55898	UNC45A	OMIM:619377
HP:0033310	Osmotic diarrhea	6523	SLC5A1	ORPHA:35710
HP:0033325	Elevated circulating sebacic acid concentration	7385	UQCRC2	OMIM:615160
HP:0033328	Type II pneumocyte hyperplasia	6440	SFTPC	OMIM:610913
HP:0033328	Type II pneumocyte hyperplasia	8085	KMT2D	OMIM:147920
HP:0033328	Type II pneumocyte hyperplasia	7403	KDM6A	OMIM:147920
HP:0033329	Abnormal postural reflex	80347	COASY	OMIM:615643
HP:0033329	Abnormal postural reflex	11152	WDR45	OMIM:300894
HP:0033331	Acute phase response	1576	CYP3A4	OMIM:619073
HP:0033331	Acute phase response	5251	PHEX	OMIM:307800
HP:0033331	Acute phase response	7369	UMOD	OMIM:162000
HP:0033331	Acute phase response	79577	CDC73	ORPHA:99880
HP:0033331	Acute phase response	79577	CDC73	ORPHA:99879
HP:0033331	Acute phase response	79577	CDC73	ORPHA:143
HP:0033331	Acute phase response	9365	KL	OMIM:617994
HP:0033331	Acute phase response	1594	CYP27B1	ORPHA:289157
HP:0033331	Acute phase response	1594	CYP27B1	OMIM:264700
HP:0033331	Acute phase response	120227	CYP2R1	ORPHA:289157
HP:0033331	Acute phase response	29927	SEC61A1	OMIM:617056
HP:0033331	Acute phase response	2778	GNAS	OMIM:612462
HP:0033331	Acute phase response	2778	GNAS	ORPHA:94089
HP:0033331	Acute phase response	2778	GNAS	ORPHA:79443
HP:0033331	Acute phase response	2778	GNAS	ORPHA:79444
HP:0033331	Acute phase response	2778	GNAS	ORPHA:79445
HP:0033331	Acute phase response	2778	GNAS	OMIM:603233
HP:0033331	Acute phase response	2778	GNAS	OMIM:103580
HP:0033331	Acute phase response	129607	CMPK2	OMIM:621018
HP:0033331	Acute phase response	4221	MEN1	ORPHA:99879
HP:0033331	Acute phase response	9247	GCM2	ORPHA:99879
HP:0033331	Acute phase response	8675	STX16	ORPHA:94089
HP:0033331	Acute phase response	8675	STX16	OMIM:603233
HP:0033331	Acute phase response	149775	GNAS-AS1	OMIM:603233
HP:0033331	Acute phase response	5144	PDE4D	ORPHA:439822
HP:0033331	Acute phase response	7421	VDR	OMIM:277440
HP:0033331	Acute phase response	6569	SLC34A1	OMIM:613388
HP:0033331	Acute phase response	406932	MIR140	OMIM:618618
HP:0033331	Acute phase response	10686	CLDN16	OMIM:248250
HP:0033331	Acute phase response	5573	PRKAR1A	OMIM:101800
HP:0033331	Acute phase response	4763	NF1	ORPHA:97685
HP:0033331	Acute phase response	1027	CDKN1B	ORPHA:276152
HP:0033331	Acute phase response	50964	SOST	OMIM:122860
HP:0033331	Acute phase response	9056	SLC7A7	ORPHA:470
HP:0033331	Acute phase response	9056	SLC7A7	OMIM:222700
HP:0033331	Acute phase response	144811	LACC1	ORPHA:85414
HP:0033331	Acute phase response	4282	MIF	ORPHA:85414
HP:0033331	Acute phase response	3123	HLA-DRB1	ORPHA:85414
HP:0033331	Acute phase response	3569	IL6	ORPHA:85414
HP:0033331	Acute phase response	55388	MCM10	OMIM:619313
HP:0033331	Acute phase response	3702	ITK	OMIM:613011
HP:0033331	Acute phase response	54914	FOCAD	OMIM:619991
HP:0033331	Acute phase response	331	XIAP	OMIM:300635
HP:0033331	Acute phase response	55240	STEAP3	OMIM:615234
HP:0033331	Acute phase response	55240	STEAP3	ORPHA:300298
HP:0033331	Acute phase response	1356	CP	OMIM:604290
HP:0033331	Acute phase response	1356	CP	ORPHA:48818
HP:0033331	Acute phase response	148738	HJV	OMIM:602390
HP:0033331	Acute phase response	148738	HJV	ORPHA:79230
HP:0033331	Acute phase response	2495	FTH1	OMIM:615517
HP:0033331	Acute phase response	9780	PIEZO1	OMIM:194380
HP:0033331	Acute phase response	9780	PIEZO1	ORPHA:3202
HP:0033331	Acute phase response	7036	TFR2	OMIM:604250
HP:0033331	Acute phase response	5551	PRF1	ORPHA:540
HP:0033331	Acute phase response	5551	PRF1	OMIM:603553
HP:0033331	Acute phase response	8676	STX11	ORPHA:540
HP:0033331	Acute phase response	8676	STX11	OMIM:603552
HP:0033331	Acute phase response	201294	UNC13D	ORPHA:540
HP:0033331	Acute phase response	6813	STXBP2	ORPHA:540
HP:0033331	Acute phase response	6813	STXBP2	OMIM:613101
HP:0033331	Acute phase response	58484	NLRC4	OMIM:616050
HP:0033331	Acute phase response	2512	FTL	OMIM:600886
HP:0033331	Acute phase response	2512	FTL	ORPHA:254704
HP:0033331	Acute phase response	617	BCS1L	OMIM:603358
HP:0033331	Acute phase response	617	BCS1L	ORPHA:53693
HP:0033331	Acute phase response	6573	SLC19A1	OMIM:601775
HP:0033331	Acute phase response	6573	SLC19A1	OMIM:620603
HP:0033331	Acute phase response	84868	HAVCR2	OMIM:618398
HP:0033331	Acute phase response	3162	HMOX1	OMIM:614034
HP:0033331	Acute phase response	54977	SLC25A38	OMIM:205950
HP:0033331	Acute phase response	64135	IFIH1	OMIM:615846
HP:0033331	Acute phase response	5294	PIK3CG	OMIM:619802
HP:0033331	Acute phase response	5698	PSMB9	OMIM:620796
HP:0033331	Acute phase response	30061	SLC40A1	OMIM:606069
HP:0033331	Acute phase response	3735	KARS1	ORPHA:3240
HP:0033331	Acute phase response	79989	IFT56	OMIM:619534
HP:0033331	Acute phase response	51218	GLRX5	OMIM:616860
HP:0033331	Acute phase response	4358	MPV17	OMIM:256810
HP:0033331	Acute phase response	3458	IFNG	OMIM:618963
HP:0033331	Acute phase response	6773	STAT2	OMIM:618886
HP:0033331	Acute phase response	654	BMP6	ORPHA:465508
HP:0033331	Acute phase response	654	BMP6	OMIM:620121
HP:0033331	Acute phase response	3077	HFE	ORPHA:465508
HP:0033331	Acute phase response	3077	HFE	OMIM:235200
HP:0033331	Acute phase response	57817	HAMP	OMIM:613313
HP:0033331	Acute phase response	57817	HAMP	ORPHA:79230
HP:0033331	Acute phase response	6521	SLC4A1	ORPHA:3202
HP:0033331	Acute phase response	3783	KCNN4	ORPHA:3202
HP:0033331	Acute phase response	5313	PKLR	ORPHA:766
HP:0033331	Acute phase response	1130	LYST	ORPHA:167
HP:0033331	Acute phase response	80324	PUS1	OMIM:600462
HP:0033331	Acute phase response	3043	HBB	ORPHA:231249
HP:0033331	Acute phase response	5277	PIGA	OMIM:300868
HP:0033331	Acute phase response	5277	PIGA	OMIM:301072
HP:0033331	Acute phase response	1371	CPOX	OMIM:618892
HP:0033331	Acute phase response	2629	GBA1	ORPHA:77259
HP:0033331	Acute phase response	950	SCARB2	ORPHA:77259
HP:0033331	Acute phase response	4613	MYCN	ORPHA:635
HP:0033331	Acute phase response	238	ALK	ORPHA:635
HP:0033331	Acute phase response	389421	LIN28B	ORPHA:635
HP:0033331	Acute phase response	4004	LMO1	ORPHA:635
HP:0033331	Acute phase response	57531	HACE1	ORPHA:635
HP:0033331	Acute phase response	8929	PHOX2B	ORPHA:635
HP:0033331	Acute phase response	650	BMP2	OMIM:235200
HP:0033331	Acute phase response	5979	RET	OMIM:162300
HP:0033331	Acute phase response	5979	RET	ORPHA:29072
HP:0033331	Acute phase response	5979	RET	OMIM:171400
HP:0033331	Acute phase response	1026	CDKN1A	ORPHA:652
HP:0033331	Acute phase response	1030	CDKN2B	ORPHA:652
HP:0033331	Acute phase response	1031	CDKN2C	ORPHA:652
HP:0033331	Acute phase response	7428	VHL	ORPHA:29072
HP:0033331	Acute phase response	1743	DLST	ORPHA:29072
HP:0033331	Acute phase response	4191	MDH2	ORPHA:29072
HP:0033331	Acute phase response	6389	SDHA	ORPHA:29072
HP:0033331	Acute phase response	23095	KIF1B	ORPHA:29072
HP:0033331	Acute phase response	2271	FH	ORPHA:29072
HP:0033331	Acute phase response	8402	SLC25A11	ORPHA:29072
HP:0033331	Acute phase response	54949	SDHAF2	ORPHA:29072
HP:0033331	Acute phase response	55654	TMEM127	ORPHA:29072
HP:0033331	Acute phase response	6391	SDHC	ORPHA:29072
HP:0033331	Acute phase response	6392	SDHD	ORPHA:29072
HP:0033331	Acute phase response	6390	SDHB	ORPHA:29072
HP:0033331	Acute phase response	4149	MAX	ORPHA:29072
HP:0033331	Acute phase response	26191	PTPN22	ORPHA:397
HP:0033331	Acute phase response	26191	PTPN22	ORPHA:85410
HP:0033331	Acute phase response	26191	PTPN22	ORPHA:85408
HP:0033331	Acute phase response	26191	PTPN22	ORPHA:900
HP:0033331	Acute phase response	26191	PTPN22	OMIM:180300
HP:0033331	Acute phase response	3106	HLA-B	ORPHA:397
HP:0033331	Acute phase response	3106	HLA-B	ORPHA:29207
HP:0033331	Acute phase response	3106	HLA-B	ORPHA:3287
HP:0033331	Acute phase response	3106	HLA-B	ORPHA:117
HP:0033331	Acute phase response	8974	P4HA2	ORPHA:397
HP:0033331	Acute phase response	9663	LPIN2	OMIM:609628
HP:0033331	Acute phase response	6775	STAT4	ORPHA:85410
HP:0033331	Acute phase response	6775	STAT4	ORPHA:93552
HP:0033331	Acute phase response	6775	STAT4	ORPHA:85408
HP:0033331	Acute phase response	6775	STAT4	ORPHA:117
HP:0033331	Acute phase response	3560	IL2RB	ORPHA:85410
HP:0033331	Acute phase response	3560	IL2RB	ORPHA:85408
HP:0033331	Acute phase response	79722	ANKRD55	ORPHA:85410
HP:0033331	Acute phase response	79722	ANKRD55	ORPHA:85408
HP:0033331	Acute phase response	919	CD247	ORPHA:85410
HP:0033331	Acute phase response	919	CD247	ORPHA:85408
HP:0033331	Acute phase response	3559	IL2RA	ORPHA:85410
HP:0033331	Acute phase response	3559	IL2RA	ORPHA:85408
HP:0033331	Acute phase response	5771	PTPN2	ORPHA:85410
HP:0033331	Acute phase response	5771	PTPN2	ORPHA:85408
HP:0033331	Acute phase response	27178	IL37	OMIM:619398
HP:0033331	Acute phase response	4598	MVK	OMIM:260920
HP:0033331	Acute phase response	4598	MVK	OMIM:610377
HP:0033331	Acute phase response	4598	MVK	ORPHA:343
HP:0033331	Acute phase response	6696	SPP1	ORPHA:93552
HP:0033331	Acute phase response	6303	SAT1	ORPHA:93552
HP:0033331	Acute phase response	3654	IRAK1	ORPHA:93552
HP:0033331	Acute phase response	55315	SLC29A3	OMIM:602782
HP:0033331	Acute phase response	7317	UBA1	OMIM:301054
HP:0033331	Acute phase response	4210	MEFV	OMIM:249100
HP:0033331	Acute phase response	4210	MEFV	ORPHA:3243
HP:0033331	Acute phase response	4210	MEFV	OMIM:608068
HP:0033331	Acute phase response	4210	MEFV	ORPHA:342
HP:0033331	Acute phase response	4210	MEFV	ORPHA:117
HP:0033331	Acute phase response	3459	IFNGR1	OMIM:209950
HP:0033331	Acute phase response	3459	IFNGR1	ORPHA:117
HP:0033331	Acute phase response	843	CASP10	OMIM:603909
HP:0033331	Acute phase response	81858	SHARPIN	OMIM:620795
HP:0033331	Acute phase response	7132	TNFRSF1A	ORPHA:32960
HP:0033331	Acute phase response	7132	TNFRSF1A	OMIM:142680
HP:0033331	Acute phase response	114548	NLRP3	ORPHA:575
HP:0033331	Acute phase response	114548	NLRP3	ORPHA:1451
HP:0033331	Acute phase response	114548	NLRP3	OMIM:191900
HP:0033331	Acute phase response	114548	NLRP3	OMIM:607115
HP:0033331	Acute phase response	3930	LBR	OMIM:613471
HP:0033331	Acute phase response	340061	STING1	OMIM:615934
HP:0033331	Acute phase response	5777	PTPN6	ORPHA:3243
HP:0033331	Acute phase response	10095	ARPC1B	OMIM:617718
HP:0033331	Acute phase response	713	C1QB	OMIM:620321
HP:0033331	Acute phase response	64127	NOD2	OMIM:617321
HP:0033331	Acute phase response	29775	CARD10	OMIM:619632
HP:0033331	Acute phase response	11277	TREX1	OMIM:192315
HP:0033331	Acute phase response	11277	TREX1	OMIM:610448
HP:0033331	Acute phase response	5580	PRKCD	OMIM:615559
HP:0033331	Acute phase response	1493	CTLA4	ORPHA:900
HP:0033331	Acute phase response	3115	HLA-DPB1	ORPHA:900
HP:0033331	Acute phase response	5657	PRTN3	ORPHA:900
HP:0033331	Acute phase response	3113	HLA-DPA1	ORPHA:900
HP:0033331	Acute phase response	7040	TGFB1	ORPHA:1328
HP:0033331	Acute phase response	130340	AP1S3	ORPHA:247353
HP:0033331	Acute phase response	26525	IL36RN	ORPHA:247353
HP:0033331	Acute phase response	57169	ZNFX1	OMIM:619644
HP:0033331	Acute phase response	1314	COPA	OMIM:616414
HP:0033331	Acute phase response	51816	ADA2	OMIM:615688
HP:0033331	Acute phase response	3557	IL1RN	OMIM:612852
HP:0033331	Acute phase response	91662	NLRP12	OMIM:611762
HP:0033331	Acute phase response	5335	PLCG1	OMIM:620514
HP:0033331	Acute phase response	55072	RNF31	OMIM:620632
HP:0033331	Acute phase response	3554	IL1R1	OMIM:259680
HP:0033331	Acute phase response	51371	POMP	OMIM:618048
HP:0033331	Acute phase response	5692	PSMB4	OMIM:617591
HP:0033331	Acute phase response	3593	IL12B	ORPHA:3287
HP:0033331	Acute phase response	6945	MLX	ORPHA:3287
HP:0033331	Acute phase response	3586	IL10	OMIM:180300
HP:0033331	Acute phase response	3586	IL10	ORPHA:117
HP:0033331	Acute phase response	6583	SLC22A4	OMIM:180300
HP:0033331	Acute phase response	4261	CIITA	OMIM:180300
HP:0033331	Acute phase response	51744	CD244	OMIM:180300
HP:0033331	Acute phase response	4795	NFKBIL1	OMIM:180300
HP:0033331	Acute phase response	2000	ELF4	OMIM:301074
HP:0033331	Acute phase response	4615	MYD88	ORPHA:33226
HP:0033331	Acute phase response	4689	NCF4	OMIM:613960
HP:0033331	Acute phase response	5696	PSMB8	OMIM:256040
HP:0033331	Acute phase response	4067	LYN	OMIM:620376
HP:0033331	Acute phase response	149233	IL23R	ORPHA:117
HP:0033331	Acute phase response	1230	CCR1	ORPHA:117
HP:0033331	Acute phase response	355	FAS	ORPHA:117
HP:0033331	Acute phase response	3592	IL12A	ORPHA:117
HP:0033331	Acute phase response	101928376	IL12A-AS1	ORPHA:117
HP:0033331	Acute phase response	7099	TLR4	ORPHA:117
HP:0033331	Acute phase response	720	C4A	ORPHA:117
HP:0033331	Acute phase response	337867	UBAC2	ORPHA:117
HP:0033331	Acute phase response	51752	ERAP1	ORPHA:117
HP:0033331	Acute phase response	8302	KLRC4	ORPHA:117
HP:0033331	Acute phase response	3689	ITGB2	OMIM:116920
HP:0033331	Acute phase response	90268	OTULIN	OMIM:617099
HP:0033331	Acute phase response	22861	NLRP1	OMIM:617388
HP:0033331	Acute phase response	4068	SH2D1A	OMIM:308240
HP:0033331	Acute phase response	50619	DEF6	OMIM:619573
HP:0033331	Acute phase response	10092	ARPC5	OMIM:620565
HP:0033331	Acute phase response	4000	LMNA	OMIM:151660
HP:0033331	Acute phase response	11330	CTRC	ORPHA:676
HP:0033331	Acute phase response	5644	PRSS1	ORPHA:676
HP:0033331	Acute phase response	5645	PRSS2	ORPHA:676
HP:0033331	Acute phase response	6690	SPINK1	ORPHA:676
HP:0033331	Acute phase response	55503	TRPV6	ORPHA:676
HP:0033331	Acute phase response	846	CASR	ORPHA:676
HP:0033331	Acute phase response	1080	CFTR	ORPHA:676
HP:0033331	Acute phase response	1357	CPA1	ORPHA:676
HP:0033331	Acute phase response	9051	PSTPIP1	OMIM:604416
HP:0033331	Acute phase response	3572	IL6ST	OMIM:619750
HP:0033331	Acute phase response	6850	SYK	OMIM:619381
HP:0033331	Acute phase response	205327	C2orf69	OMIM:619423
HP:0033331	Acute phase response	7187	TRAF3	ORPHA:1930
HP:0033331	Acute phase response	81622	UNC93B1	ORPHA:1930
HP:0033331	Acute phase response	148022	TICAM1	ORPHA:1930
HP:0033331	Acute phase response	7098	TLR3	ORPHA:1930
HP:0033331	Acute phase response	29110	TBK1	ORPHA:1930
HP:0033331	Acute phase response	5741	PTH	OMIM:146200
HP:0033331	Acute phase response	1591	CYP24A1	OMIM:143880
HP:0033331	Acute phase response	6899	TBX1	OMIM:188400
HP:0033331	Acute phase response	54809	SAMD9	OMIM:610455
HP:0033331	Acute phase response	142680	SLC34A3	ORPHA:157215
HP:0033331	Acute phase response	142680	SLC34A3	OMIM:241530
HP:0033331	Acute phase response	6905	TBCE	OMIM:241410
HP:0033331	Acute phase response	164656	TMPRSS6	OMIM:206200
HP:0033331	Acute phase response	164656	TMPRSS6	ORPHA:209981
HP:0033331	Acute phase response	23166	STAB1	OMIM:620729
HP:0033331	Acute phase response	135	ADORA2A	ORPHA:363549
HP:0033331	Acute phase response	56984	PSMG2	OMIM:619183
HP:0033331	Acute phase response	10216	PRG4	ORPHA:2848
HP:0033331	Acute phase response	5699	PSMB10	OMIM:619175
HP:0033331	Acute phase response	100151683	RNU4ATAC	ORPHA:2636
HP:0033331	Acute phase response	54757	FAM20A	ORPHA:1031
HP:0033331	Acute phase response	149461	CLDN19	ORPHA:2196
HP:0033331	Acute phase response	326	AIRE	ORPHA:3453
HP:0033331	Acute phase response	4952	OCRL	ORPHA:534
HP:0033332	Elevated circulating amyloid A concentration	4210	MEFV	OMIM:249100
HP:0033332	Elevated circulating amyloid A concentration	3572	IL6ST	OMIM:619750
HP:0033333	Jaw contracture	1272	CNTN1	OMIM:612540
HP:0033334	Abnormal embryonic development	353238	PADI6	OMIM:617234
HP:0033334	Abnormal embryonic development	286151	FBXO43	OMIM:619697
HP:0033334	Abnormal embryonic development	54766	BTG4	OMIM:619009
HP:0033334	Abnormal embryonic development	1111	CHEK1	OMIM:620610
HP:0033334	Abnormal embryonic development	9319	TRIP13	OMIM:619011
HP:0033334	Abnormal embryonic development	80726	IQCN	OMIM:620170
HP:0033334	Abnormal embryonic development	678	ZFP36L2	OMIM:620154
HP:0033334	Abnormal embryonic development	283677	REC114	OMIM:619176
HP:0033335	Abnormal preimplantation embryonic development	353238	PADI6	OMIM:617234
HP:0033335	Abnormal preimplantation embryonic development	286151	FBXO43	OMIM:619697
HP:0033335	Abnormal preimplantation embryonic development	54766	BTG4	OMIM:619009
HP:0033335	Abnormal preimplantation embryonic development	1111	CHEK1	OMIM:620610
HP:0033335	Abnormal preimplantation embryonic development	9319	TRIP13	OMIM:619011
HP:0033335	Abnormal preimplantation embryonic development	80726	IQCN	OMIM:620170
HP:0033335	Abnormal preimplantation embryonic development	678	ZFP36L2	OMIM:620154
HP:0033335	Abnormal preimplantation embryonic development	283677	REC114	OMIM:619176
HP:0033336	Zygotic cleavage failure	54766	BTG4	OMIM:619009
HP:0033336	Zygotic cleavage failure	1111	CHEK1	OMIM:620610
HP:0033336	Zygotic cleavage failure	9319	TRIP13	OMIM:619011
HP:0033337	Abnormal gametogenesis	24145	PANX1	ORPHA:488191
HP:0033337	Abnormal gametogenesis	494551	WEE2	ORPHA:488191
HP:0033337	Abnormal gametogenesis	197135	PATL2	ORPHA:488191
HP:0033337	Abnormal gametogenesis	347688	TUBB8	ORPHA:488191
HP:0033337	Abnormal gametogenesis	9319	TRIP13	OMIM:619011
HP:0033337	Abnormal gametogenesis	991	CDC20	OMIM:620276
HP:0012500	Verrucous papule	488	ATP2A2	OMIM:101900
HP:0012500	Verrucous papule	7373	COL14A1	ORPHA:79501
HP:0012500	Verrucous papule	79719	AAGAB	ORPHA:79501
HP:0012501	Abnormal brainstem white matter morphology	80184	CEP290	OMIM:610188
HP:0012501	Abnormal brainstem white matter morphology	51259	TMEM216	OMIM:608091
HP:0012501	Abnormal brainstem white matter morphology	91147	TMEM67	OMIM:610688
HP:0012501	Abnormal brainstem white matter morphology	4867	NPHP1	OMIM:609583
HP:0012501	Abnormal brainstem white matter morphology	1593	CYP27A1	ORPHA:909
HP:0012501	Abnormal brainstem white matter morphology	26278	SACS	ORPHA:98
HP:0012501	Abnormal brainstem white matter morphology	4001	LMNB1	ORPHA:99027
HP:0012501	Abnormal brainstem white matter morphology	2313	FLI1	ORPHA:370348
HP:0012501	Abnormal brainstem white matter morphology	54806	AHI1	OMIM:608629
HP:0012501	Abnormal brainstem white matter morphology	79848	CSPP1	ORPHA:397715
HP:0012501	Abnormal brainstem white matter morphology	79848	CSPP1	OMIM:615636
HP:0012501	Abnormal brainstem white matter morphology	9786	KIAA0586	ORPHA:397715
HP:0012501	Abnormal brainstem white matter morphology	403	ARL3	OMIM:618161
HP:0012501	Abnormal brainstem white matter morphology	284217	LAMA1	ORPHA:370022
HP:0012501	Abnormal brainstem white matter morphology	56623	INPP5E	OMIM:213300
HP:0012501	Abnormal brainstem white matter morphology	1182	CLCN3	OMIM:619512
HP:0012501	Abnormal brainstem white matter morphology	215	ABCD1	ORPHA:139396
HP:0012502	Abnormality of the internal capsule	347733	TUBB2B	ORPHA:467166
HP:0012502	Abnormality of the internal capsule	7846	TUBA1A	ORPHA:467166
HP:0012502	Abnormality of the internal capsule	10381	TUBB3	ORPHA:467166
HP:0012502	Abnormality of the internal capsule	10367	MICU1	OMIM:615673
HP:0012503	Abnormal pituitary gland morphology	58499	ZNF462	ORPHA:502430
HP:0012503	Abnormal pituitary gland morphology	6909	TBX2	OMIM:618223
HP:0012503	Abnormal pituitary gland morphology	5122	PCSK1	ORPHA:71528
HP:0012503	Abnormal pituitary gland morphology	23394	ADNP	OMIM:615873
HP:0012503	Abnormal pituitary gland morphology	10785	WDR4	OMIM:618347
HP:0012503	Abnormal pituitary gland morphology	5443	POMC	ORPHA:71526
HP:0012503	Abnormal pituitary gland morphology	5443	POMC	OMIM:609734
HP:0012503	Abnormal pituitary gland morphology	22800	RRAS2	OMIM:618624
HP:0012503	Abnormal pituitary gland morphology	100033413	SNORD116-1	OMIM:176270
HP:0012503	Abnormal pituitary gland morphology	8924	HERC2	OMIM:176270
HP:0012503	Abnormal pituitary gland morphology	23742	NPAP1	OMIM:176270
HP:0012503	Abnormal pituitary gland morphology	338433	SNORD115-1	OMIM:176270
HP:0012503	Abnormal pituitary gland morphology	7681	MKRN3	OMIM:176270
HP:0012503	Abnormal pituitary gland morphology	145624	PWAR1	OMIM:176270
HP:0012503	Abnormal pituitary gland morphology	3653	IPW	OMIM:176270
HP:0012503	Abnormal pituitary gland morphology	791114	PWRN1	OMIM:176270
HP:0012503	Abnormal pituitary gland morphology	27125	AFF4	ORPHA:444077
HP:0012503	Abnormal pituitary gland morphology	55315	SLC29A3	OMIM:602782
HP:0012503	Abnormal pituitary gland morphology	7707	ZNF148	OMIM:617260
HP:0012503	Abnormal pituitary gland morphology	55159	RFWD3	OMIM:617784
HP:0012503	Abnormal pituitary gland morphology	113179	ADAT3	ORPHA:363528
HP:0012503	Abnormal pituitary gland morphology	113179	ADAT3	OMIM:615286
HP:0012503	Abnormal pituitary gland morphology	2188	FANCF	OMIM:603467
HP:0012503	Abnormal pituitary gland morphology	6777	STAT5B	OMIM:245590
HP:0012503	Abnormal pituitary gland morphology	284058	KANSL1	ORPHA:363958
HP:0012503	Abnormal pituitary gland morphology	284058	KANSL1	ORPHA:363965
HP:0012503	Abnormal pituitary gland morphology	9581	PREPL	OMIM:616224
HP:0012503	Abnormal pituitary gland morphology	55699	IARS2	ORPHA:436174
HP:0012503	Abnormal pituitary gland morphology	55699	IARS2	OMIM:616007
HP:0012503	Abnormal pituitary gland morphology	3953	LEPR	OMIM:614963
HP:0012503	Abnormal pituitary gland morphology	2917	GRM7	OMIM:618922
HP:0012503	Abnormal pituitary gland morphology	79184	BRCC3	ORPHA:280679
HP:0012503	Abnormal pituitary gland morphology	5308	PITX2	OMIM:180500
HP:0012503	Abnormal pituitary gland morphology	7840	ALMS1	OMIM:203800
HP:0012503	Abnormal pituitary gland morphology	7840	ALMS1	ORPHA:64
HP:0012503	Abnormal pituitary gland morphology	3481	IGF2	OMIM:180860
HP:0012503	Abnormal pituitary gland morphology	157680	VPS13B	OMIM:216550
HP:0012503	Abnormal pituitary gland morphology	25942	SIN3A	ORPHA:94065
HP:0012503	Abnormal pituitary gland morphology	25942	SIN3A	OMIM:613406
HP:0012503	Abnormal pituitary gland morphology	5718	PSMD12	ORPHA:529962
HP:0012503	Abnormal pituitary gland morphology	2186	BPTF	ORPHA:529962
HP:0012503	Abnormal pituitary gland morphology	4297	KMT2A	ORPHA:319182
HP:0012503	Abnormal pituitary gland morphology	93627	TBCK	ORPHA:488632
HP:0012503	Abnormal pituitary gland morphology	1028	CDKN1C	OMIM:614732
HP:0012503	Abnormal pituitary gland morphology	23007	PLCH1	ORPHA:93925
HP:0012503	Abnormal pituitary gland morphology	10735	STAG2	ORPHA:93925
HP:0012503	Abnormal pituitary gland morphology	10735	STAG2	ORPHA:220386
HP:0012503	Abnormal pituitary gland morphology	57187	THOC2	ORPHA:457240
HP:0012503	Abnormal pituitary gland morphology	54	ACP5	ORPHA:1855
HP:0012503	Abnormal pituitary gland morphology	3981	LIG4	ORPHA:235
HP:0012503	Abnormal pituitary gland morphology	54888	NSUN2	ORPHA:235
HP:0012503	Abnormal pituitary gland morphology	9056	SLC7A7	ORPHA:470
HP:0012503	Abnormal pituitary gland morphology	84265	POLR3GL	OMIM:619234
HP:0012503	Abnormal pituitary gland morphology	6905	TBCE	OMIM:241410
HP:0012503	Abnormal pituitary gland morphology	54499	TMCO1	OMIM:213980
HP:0012503	Abnormal pituitary gland morphology	2887	GRB10	ORPHA:96182
HP:0012503	Abnormal pituitary gland morphology	5605	MAP2K2	OMIM:615280
HP:0012503	Abnormal pituitary gland morphology	9702	CEP57	OMIM:614114
HP:0012503	Abnormal pituitary gland morphology	9897	WASHC5	OMIM:220210
HP:0012503	Abnormal pituitary gland morphology	23247	KATNIP	OMIM:616784
HP:0012503	Abnormal pituitary gland morphology	8243	SMC1A	ORPHA:220386
HP:0012503	Abnormal pituitary gland morphology	2317	FLNB	ORPHA:1263
HP:0012503	Abnormal pituitary gland morphology	695	BTK	OMIM:307200
HP:0012503	Abnormal pituitary gland morphology	9526	MPDU1	ORPHA:79323
HP:0012503	Abnormal pituitary gland morphology	1513	CTSK	ORPHA:763
HP:0012503	Abnormal pituitary gland morphology	79644	SRD5A3	ORPHA:324737
HP:0012503	Abnormal pituitary gland morphology	1968	EIF2S3	OMIM:300148
HP:0012503	Abnormal pituitary gland morphology	51053	GMNN	OMIM:616835
HP:0012503	Abnormal pituitary gland morphology	6664	SOX11	OMIM:615866
HP:0012503	Abnormal pituitary gland morphology	7080	NKX2-1	OMIM:610978
HP:0012503	Abnormal pituitary gland morphology	157570	ESCO2	OMIM:216100
HP:0012503	Abnormal pituitary gland morphology	8085	KMT2D	OMIM:147920
HP:0012503	Abnormal pituitary gland morphology	7403	KDM6A	OMIM:147920
HP:0012503	Abnormal pituitary gland morphology	6469	SHH	OMIM:147250
HP:0012503	Abnormal pituitary gland morphology	6469	SHH	ORPHA:280195
HP:0012503	Abnormal pituitary gland morphology	145173	B3GLCT	ORPHA:709
HP:0012503	Abnormal pituitary gland morphology	652	BMP4	OMIM:607932
HP:0012503	Abnormal pituitary gland morphology	60401	EDA2R	ORPHA:181
HP:0012503	Abnormal pituitary gland morphology	1896	EDA	ORPHA:181
HP:0012503	Abnormal pituitary gland morphology	4509	MT-ATP8	ORPHA:480
HP:0012503	Abnormal pituitary gland morphology	4567	MT-TL1	ORPHA:480
HP:0012503	Abnormal pituitary gland morphology	50484	RRM2B	ORPHA:480
HP:0012503	Abnormal pituitary gland morphology	28514	DLL1	ORPHA:280195
HP:0012503	Abnormal pituitary gland morphology	7050	TGIF1	ORPHA:280195
HP:0012503	Abnormal pituitary gland morphology	4838	NODAL	ORPHA:280195
HP:0012503	Abnormal pituitary gland morphology	7546	ZIC2	ORPHA:280195
HP:0012503	Abnormal pituitary gland morphology	6491	STIL	ORPHA:280195
HP:0012503	Abnormal pituitary gland morphology	2619	GAS1	ORPHA:280195
HP:0012503	Abnormal pituitary gland morphology	84976	DISP1	ORPHA:280195
HP:0012503	Abnormal pituitary gland morphology	8928	FOXH1	ORPHA:280195
HP:0012503	Abnormal pituitary gland morphology	6997	CRIPTO	ORPHA:280195
HP:0012503	Abnormal pituitary gland morphology	5727	PTCH1	ORPHA:280195
HP:0012503	Abnormal pituitary gland morphology	50937	CDON	ORPHA:280195
HP:0012503	Abnormal pituitary gland morphology	8626	TP63	ORPHA:1896
HP:0012503	Abnormal pituitary gland morphology	55636	CHD7	ORPHA:138
HP:0012503	Abnormal pituitary gland morphology	55636	CHD7	ORPHA:478
HP:0012503	Abnormal pituitary gland morphology	9723	SEMA3E	ORPHA:138
HP:0012503	Abnormal pituitary gland morphology	10371	SEMA3A	ORPHA:478
HP:0012503	Abnormal pituitary gland morphology	81848	SPRY4	ORPHA:478
HP:0012503	Abnormal pituitary gland morphology	23767	FLRT3	ORPHA:478
HP:0012503	Abnormal pituitary gland morphology	79625	NDNF	ORPHA:478
HP:0012503	Abnormal pituitary gland morphology	389549	FEZF1	ORPHA:478
HP:0012503	Abnormal pituitary gland morphology	1630	DCC	ORPHA:478
HP:0012503	Abnormal pituitary gland morphology	3730	ANOS1	ORPHA:478
HP:0012503	Abnormal pituitary gland morphology	54756	IL17RD	ORPHA:478
HP:0012503	Abnormal pituitary gland morphology	6663	SOX10	ORPHA:478
HP:0012503	Abnormal pituitary gland morphology	285025	CCDC141	ORPHA:478
HP:0012503	Abnormal pituitary gland morphology	60675	PROK2	ORPHA:478
HP:0012503	Abnormal pituitary gland morphology	1848	DUSP6	ORPHA:478
HP:0012503	Abnormal pituitary gland morphology	6870	TACR3	ORPHA:478
HP:0012503	Abnormal pituitary gland morphology	55717	WDR11	ORPHA:478
HP:0012503	Abnormal pituitary gland morphology	8822	FGF17	ORPHA:478
HP:0012503	Abnormal pituitary gland morphology	668	FOXL2	OMIM:110100
HP:0012503	Abnormal pituitary gland morphology	2492	FSHR	ORPHA:64739
HP:0012503	Abnormal pituitary gland morphology	2492	FSHR	ORPHA:243
HP:0012503	Abnormal pituitary gland morphology	2492	FSHR	OMIM:233300
HP:0012503	Abnormal pituitary gland morphology	7490	WT1	ORPHA:347
HP:0012503	Abnormal pituitary gland morphology	7490	WT1	ORPHA:251510
HP:0012503	Abnormal pituitary gland morphology	3973	LHCGR	OMIM:238320
HP:0012503	Abnormal pituitary gland morphology	29893	PSMC3IP	ORPHA:243
HP:0012503	Abnormal pituitary gland morphology	171568	POLR3H	ORPHA:243
HP:0012503	Abnormal pituitary gland morphology	2516	NR5A1	ORPHA:243
HP:0012503	Abnormal pituitary gland morphology	2516	NR5A1	ORPHA:251510
HP:0012503	Abnormal pituitary gland morphology	2516	NR5A1	ORPHA:399805
HP:0012503	Abnormal pituitary gland morphology	125150	ZSWIM7	ORPHA:243
HP:0012503	Abnormal pituitary gland morphology	9210	BMP15	ORPHA:243
HP:0012503	Abnormal pituitary gland morphology	57122	NUP107	ORPHA:243
HP:0012503	Abnormal pituitary gland morphology	23514	SPIDR	ORPHA:243
HP:0012503	Abnormal pituitary gland morphology	56945	MRPS22	ORPHA:243
HP:0012503	Abnormal pituitary gland morphology	646	BNC1	ORPHA:243
HP:0012503	Abnormal pituitary gland morphology	4438	MSH4	ORPHA:243
HP:0012503	Abnormal pituitary gland morphology	2099	ESR1	ORPHA:785
HP:0012503	Abnormal pituitary gland morphology	23395	LARS2	OMIM:615300
HP:0012503	Abnormal pituitary gland morphology	2332	FMR1	OMIM:311360
HP:0012503	Abnormal pituitary gland morphology	6736	SRY	ORPHA:1772
HP:0012503	Abnormal pituitary gland morphology	6736	SRY	ORPHA:251510
HP:0012503	Abnormal pituitary gland morphology	3295	HSD17B4	OMIM:233400
HP:0012503	Abnormal pituitary gland morphology	6662	SOX9	ORPHA:251510
HP:0012503	Abnormal pituitary gland morphology	6845	VAMP7	ORPHA:251510
HP:0012503	Abnormal pituitary gland morphology	51741	WWOX	ORPHA:251510
HP:0012503	Abnormal pituitary gland morphology	4214	MAP3K1	ORPHA:251510
HP:0012503	Abnormal pituitary gland morphology	57647	DHX37	ORPHA:251510
HP:0012503	Abnormal pituitary gland morphology	23414	ZFPM2	ORPHA:251510
HP:0012503	Abnormal pituitary gland morphology	190	NR0B1	ORPHA:251510
HP:0012503	Abnormal pituitary gland morphology	2626	GATA4	ORPHA:251510
HP:0012503	Abnormal pituitary gland morphology	5422	POLA1	ORPHA:163976
HP:0012503	Abnormal pituitary gland morphology	56154	TEX15	ORPHA:399805
HP:0012503	Abnormal pituitary gland morphology	6875	TAF4B	ORPHA:399805
HP:0012503	Abnormal pituitary gland morphology	7516	XRCC2	ORPHA:399805
HP:0012503	Abnormal pituitary gland morphology	254528	MEIOB	ORPHA:399805
HP:0012503	Abnormal pituitary gland morphology	10734	STAG3	ORPHA:399805
HP:0012503	Abnormal pituitary gland morphology	145645	TERB2	ORPHA:399805
HP:0012503	Abnormal pituitary gland morphology	54967	CT55	ORPHA:399805
HP:0012503	Abnormal pituitary gland morphology	4439	MSH5	ORPHA:399805
HP:0012503	Abnormal pituitary gland morphology	283847	TERB1	ORPHA:399805
HP:0012503	Abnormal pituitary gland morphology	402381	SOHLH1	ORPHA:399805
HP:0012503	Abnormal pituitary gland morphology	56159	TEX11	ORPHA:399805
HP:0012503	Abnormal pituitary gland morphology	144132	DNHD1	ORPHA:399805
HP:0012503	Abnormal pituitary gland morphology	1080	CFTR	ORPHA:399805
HP:0012503	Abnormal pituitary gland morphology	50511	SYCP3	ORPHA:399805
HP:0012503	Abnormal pituitary gland morphology	285498	RNF212	ORPHA:399805
HP:0012503	Abnormal pituitary gland morphology	54456	MOV10L1	ORPHA:399805
HP:0012503	Abnormal pituitary gland morphology	56155	TEX14	ORPHA:399805
HP:0012503	Abnormal pituitary gland morphology	91057	CCDC34	ORPHA:399805
HP:0012503	Abnormal pituitary gland morphology	375307	CATIP	ORPHA:399805
HP:0012503	Abnormal pituitary gland morphology	196385	DNAH10	ORPHA:399805
HP:0012503	Abnormal pituitary gland morphology	140801	RPL10L	ORPHA:399805
HP:0012503	Abnormal pituitary gland morphology	317719	KLHL10	ORPHA:399805
HP:0012503	Abnormal pituitary gland morphology	200162	SPAG17	ORPHA:399805
HP:0012503	Abnormal pituitary gland morphology	57697	FANCM	ORPHA:399805
HP:0012503	Abnormal pituitary gland morphology	84225	ZMYND15	ORPHA:399805
HP:0012503	Abnormal pituitary gland morphology	122402	TDRD9	ORPHA:399805
HP:0012503	Abnormal pituitary gland morphology	154197	PNLDC1	ORPHA:399805
HP:0012503	Abnormal pituitary gland morphology	93426	SYCE1	ORPHA:399805
HP:0012503	Abnormal pituitary gland morphology	340719	NANOS1	ORPHA:399805
HP:0012503	Abnormal pituitary gland morphology	286151	FBXO43	ORPHA:399805
HP:0012503	Abnormal pituitary gland morphology	158401	SHOC1	ORPHA:399805
HP:0012503	Abnormal pituitary gland morphology	5161	PDHA2	ORPHA:399805
HP:0012503	Abnormal pituitary gland morphology	1586	CYP17A1	ORPHA:90793
HP:0012503	Abnormal pituitary gland morphology	50846	DHH	ORPHA:168563
HP:0012503	Abnormal pituitary gland morphology	5573	PRKAR1A	OMIM:160980
HP:0012503	Abnormal pituitary gland morphology	5573	PRKAR1A	ORPHA:1359
HP:0012503	Abnormal pituitary gland morphology	5373	PMM2	ORPHA:79318
HP:0012503	Abnormal pituitary gland morphology	1027	CDKN1B	ORPHA:652
HP:0012503	Abnormal pituitary gland morphology	1027	CDKN1B	OMIM:610755
HP:0012503	Abnormal pituitary gland morphology	1027	CDKN1B	ORPHA:276152
HP:0012503	Abnormal pituitary gland morphology	1026	CDKN1A	ORPHA:652
HP:0012503	Abnormal pituitary gland morphology	1030	CDKN2B	ORPHA:652
HP:0012503	Abnormal pituitary gland morphology	1031	CDKN2C	ORPHA:652
HP:0012503	Abnormal pituitary gland morphology	3248	HPGD	ORPHA:2796
HP:0012503	Abnormal pituitary gland morphology	6578	SLCO2A1	ORPHA:2796
HP:0012503	Abnormal pituitary gland morphology	3767	KCNJ11	ORPHA:79644
HP:0012503	Abnormal pituitary gland morphology	3479	IGF1	OMIM:608747
HP:0012503	Abnormal pituitary gland morphology	50940	PDE11A	ORPHA:1359
HP:0012503	Abnormal pituitary gland morphology	55154	MSTO1	OMIM:617675
HP:0012503	Abnormal pituitary gland morphology	55154	MSTO1	ORPHA:502423
HP:0012503	Abnormal pituitary gland morphology	5618	PRLR	OMIM:615555
HP:0012503	Abnormal pituitary gland morphology	7201	TRHR	ORPHA:99832
HP:0012503	Abnormal pituitary gland morphology	1644	DDC	ORPHA:35708
HP:0012503	Abnormal pituitary gland morphology	11128	POLR3A	ORPHA:3455
HP:0012503	Abnormal pituitary gland morphology	7252	TSHB	ORPHA:90674
HP:0012503	Abnormal pituitary gland morphology	7737	RNF113A	OMIM:300953
HP:0012503	Abnormal pituitary gland morphology	3458	IFNG	ORPHA:805
HP:0012503	Abnormal pituitary gland morphology	7248	TSC1	ORPHA:805
HP:0012503	Abnormal pituitary gland morphology	7249	TSC2	ORPHA:805
HP:0012503	Abnormal pituitary gland morphology	324	APC	ORPHA:99818
HP:0012503	Abnormal pituitary gland morphology	4072	EPCAM	ORPHA:144
HP:0012503	Abnormal pituitary gland morphology	4292	MLH1	ORPHA:144
HP:0012503	Abnormal pituitary gland morphology	5395	PMS2	ORPHA:144
HP:0012503	Abnormal pituitary gland morphology	7048	TGFBR2	ORPHA:144
HP:0012503	Abnormal pituitary gland morphology	3845	KRAS	ORPHA:144
HP:0012503	Abnormal pituitary gland morphology	2956	MSH6	ORPHA:144
HP:0012503	Abnormal pituitary gland morphology	5378	PMS1	ORPHA:144
HP:0012503	Abnormal pituitary gland morphology	4436	MSH2	ORPHA:144
HP:0012503	Abnormal pituitary gland morphology	64218	SEMA4A	ORPHA:440437
HP:0012503	Abnormal pituitary gland morphology	472	ATM	ORPHA:440437
HP:0012503	Abnormal pituitary gland morphology	5426	POLE	ORPHA:440437
HP:0012503	Abnormal pituitary gland morphology	675	BRCA2	ORPHA:440437
HP:0012503	Abnormal pituitary gland morphology	657	BMPR1A	ORPHA:440437
HP:0012503	Abnormal pituitary gland morphology	6224	RPS20	ORPHA:440437
HP:0012503	Abnormal pituitary gland morphology	4595	MUTYH	ORPHA:440437
HP:0012503	Abnormal pituitary gland morphology	5424	POLD1	ORPHA:440437
HP:0012503	Abnormal pituitary gland morphology	11200	CHEK2	ORPHA:440437
HP:0012503	Abnormal pituitary gland morphology	79798	ARMC5	ORPHA:189427
HP:0012503	Abnormal pituitary gland morphology	23028	KDM1A	ORPHA:189427
HP:0012503	Abnormal pituitary gland morphology	9101	USP8	OMIM:219090
HP:0012503	Abnormal pituitary gland morphology	3418	IDH2	ORPHA:163634
HP:0012503	Abnormal pituitary gland morphology	3417	IDH1	ORPHA:163634
HP:0012503	Abnormal pituitary gland morphology	7528	YY1	ORPHA:97279
HP:0012503	Abnormal pituitary gland morphology	1621	DBH	OMIM:223360
HP:0012503	Abnormal pituitary gland morphology	3547	IGSF1	OMIM:300888
HP:0012503	Abnormal pituitary gland morphology	2778	GNAS	ORPHA:94089
HP:0012503	Abnormal pituitary gland morphology	2778	GNAS	ORPHA:79443
HP:0012503	Abnormal pituitary gland morphology	2778	GNAS	ORPHA:79444
HP:0012503	Abnormal pituitary gland morphology	8675	STX16	ORPHA:94089
HP:0012503	Abnormal pituitary gland morphology	2245	FGD1	OMIM:305400
HP:0012503	Abnormal pituitary gland morphology	286053	NSMCE2	OMIM:617253
HP:0012503	Abnormal pituitary gland morphology	1730	DIAPH2	OMIM:300511
HP:0012503	Abnormal pituitary gland morphology	2100	ESR2	OMIM:618187
HP:0012503	Abnormal pituitary gland morphology	147872	KASH5	OMIM:620548
HP:0012503	Abnormal pituitary gland morphology	84515	MCM8	OMIM:612885
HP:0012503	Abnormal pituitary gland morphology	8468	FKBP6	OMIM:620103
HP:0012503	Abnormal pituitary gland morphology	5447	POR	ORPHA:95699
HP:0012503	Abnormal pituitary gland morphology	7555	CNBP	OMIM:602668
HP:0012503	Abnormal pituitary gland morphology	317761	C14orf39	OMIM:619203
HP:0012503	Abnormal pituitary gland morphology	3972	LHB	OMIM:228300
HP:0012503	Abnormal pituitary gland morphology	1528	CYB5A	ORPHA:90796
HP:0012503	Abnormal pituitary gland morphology	164045	HFM1	OMIM:615724
HP:0012503	Abnormal pituitary gland morphology	84634	KISS1R	OMIM:176400
HP:0012503	Abnormal pituitary gland morphology	84690	SPATA22	OMIM:621002
HP:0012503	Abnormal pituitary gland morphology	254394	MCM9	OMIM:616185
HP:0012503	Abnormal pituitary gland morphology	2074	ERCC6	OMIM:616946
HP:0012503	Abnormal pituitary gland morphology	8192	CLPP	OMIM:614129
HP:0012503	Abnormal pituitary gland morphology	221711	SYCP2L	OMIM:620840
HP:0012503	Abnormal pituitary gland morphology	658	BMPR1B	OMIM:609441
HP:0012503	Abnormal pituitary gland morphology	367	AR	OMIM:300068
HP:0012503	Abnormal pituitary gland morphology	84733	CBX2	OMIM:613080
HP:0012503	Abnormal pituitary gland morphology	93953	GCNA	OMIM:301077
HP:0012503	Abnormal pituitary gland morphology	2661	GDF9	OMIM:618014
HP:0012503	Abnormal pituitary gland morphology	55012	PPP2R3C	OMIM:618419
HP:0012503	Abnormal pituitary gland morphology	344018	FIGLA	OMIM:612310
HP:0012503	Abnormal pituitary gland morphology	78995	HROB	OMIM:620897
HP:0012503	Abnormal pituitary gland morphology	3952	LEP	ORPHA:66628
HP:0012503	Abnormal pituitary gland morphology	84196	USP48	ORPHA:96253
HP:0012503	Abnormal pituitary gland morphology	7157	TP53	ORPHA:96253
HP:0012503	Abnormal pituitary gland morphology	2908	NR3C1	ORPHA:96253
HP:0012503	Abnormal pituitary gland morphology	546	ATRX	ORPHA:96253
HP:0012503	Abnormal pituitary gland morphology	5456	POU3F4	ORPHA:1435
HP:0012503	Abnormal pituitary gland morphology	2627	GATA6	ORPHA:2255
HP:0012503	Abnormal pituitary gland morphology	6091	ROBO1	OMIM:620303
HP:0012503	Abnormal pituitary gland morphology	6496	SIX3	OMIM:157170
HP:0012503	Abnormal pituitary gland morphology	55599	RNPC3	OMIM:618160
HP:0012503	Abnormal pituitary gland morphology	4841	NONO	ORPHA:466791
HP:0012503	Abnormal pituitary gland morphology	9791	PTDSS1	OMIM:151050
HP:0012503	Abnormal pituitary gland morphology	6638	SNRPN	ORPHA:177904
HP:0012503	Abnormal pituitary gland morphology	6638	SNRPN	ORPHA:177901
HP:0012503	Abnormal pituitary gland morphology	6638	SNRPN	ORPHA:177907
HP:0012503	Abnormal pituitary gland morphology	6638	SNRPN	ORPHA:98754
HP:0012503	Abnormal pituitary gland morphology	4692	NDN	ORPHA:177904
HP:0012503	Abnormal pituitary gland morphology	4692	NDN	ORPHA:177901
HP:0012503	Abnormal pituitary gland morphology	4692	NDN	ORPHA:98754
HP:0012503	Abnormal pituitary gland morphology	4948	OCA2	ORPHA:177904
HP:0012503	Abnormal pituitary gland morphology	4948	OCA2	ORPHA:177901
HP:0012503	Abnormal pituitary gland morphology	4948	OCA2	ORPHA:98754
HP:0012503	Abnormal pituitary gland morphology	79989	IFT56	OMIM:619534
HP:0012503	Abnormal pituitary gland morphology	23312	DMXL2	ORPHA:453533
HP:0012503	Abnormal pituitary gland morphology	23312	DMXL2	OMIM:616113
HP:0012503	Abnormal pituitary gland morphology	4087	SMAD2	OMIM:619657
HP:0012503	Abnormal pituitary gland morphology	2688	GH1	OMIM:173100
HP:0012503	Abnormal pituitary gland morphology	148867	SLC30A7	OMIM:620501
HP:0012503	Abnormal pituitary gland morphology	10908	PNPLA6	OMIM:215470
HP:0012503	Abnormal pituitary gland morphology	10908	PNPLA6	OMIM:275400
HP:0012503	Abnormal pituitary gland morphology	4524	MTHFR	ORPHA:563612
HP:0012503	Abnormal pituitary gland morphology	57216	VANGL2	ORPHA:563612
HP:0012503	Abnormal pituitary gland morphology	6926	TBX3	OMIM:181450
HP:0012503	Abnormal pituitary gland morphology	8567	MADD	OMIM:619004
HP:0012503	Abnormal pituitary gland morphology	2692	GHRHR	OMIM:618157
HP:0012503	Abnormal pituitary gland morphology	283987	HID1	OMIM:619983
HP:0012503	Abnormal pituitary gland morphology	9578	CDC42BPB	OMIM:619841
HP:0012503	Abnormal pituitary gland morphology	9915	ARNT2	OMIM:615926
HP:0012503	Abnormal pituitary gland morphology	9915	ARNT2	ORPHA:3157
HP:0012503	Abnormal pituitary gland morphology	4990	SIX6	OMIM:206900
HP:0012503	Abnormal pituitary gland morphology	6657	SOX2	OMIM:206900
HP:0012503	Abnormal pituitary gland morphology	6657	SOX2	ORPHA:3157
HP:0012503	Abnormal pituitary gland morphology	2260	FGFR1	ORPHA:3157
HP:0012503	Abnormal pituitary gland morphology	128674	PROKR2	ORPHA:3157
HP:0012503	Abnormal pituitary gland morphology	9095	TBX19	OMIM:201400
HP:0012503	Abnormal pituitary gland morphology	84133	ZNRF3	ORPHA:1501
HP:0012503	Abnormal pituitary gland morphology	1029	CDKN2A	ORPHA:1501
HP:0012503	Abnormal pituitary gland morphology	1583	CYP11A1	ORPHA:289548
HP:0012503	Abnormal pituitary gland morphology	1583	CYP11A1	ORPHA:168558
HP:0012503	Abnormal pituitary gland morphology	1583	CYP11A1	OMIM:613743
HP:0012503	Abnormal pituitary gland morphology	3284	HSD3B2	ORPHA:90791
HP:0012503	Abnormal pituitary gland morphology	4173	MCM4	OMIM:609981
HP:0012503	Abnormal pituitary gland morphology	215	ABCD1	ORPHA:139399
HP:0012503	Abnormal pituitary gland morphology	4771	NF2	ORPHA:93921
HP:0012503	Abnormal pituitary gland morphology	4771	NF2	ORPHA:2495
HP:0012503	Abnormal pituitary gland morphology	6598	SMARCB1	ORPHA:93921
HP:0012503	Abnormal pituitary gland morphology	6598	SMARCB1	ORPHA:2495
HP:0012503	Abnormal pituitary gland morphology	51004	COQ6	ORPHA:93921
HP:0012503	Abnormal pituitary gland morphology	8216	LZTR1	ORPHA:93921
HP:0012503	Abnormal pituitary gland morphology	8314	BAP1	ORPHA:2495
HP:0012503	Abnormal pituitary gland morphology	5155	PDGFB	ORPHA:2495
HP:0012503	Abnormal pituitary gland morphology	84231	TRAF7	ORPHA:2495
HP:0012503	Abnormal pituitary gland morphology	6608	SMO	ORPHA:2495
HP:0012503	Abnormal pituitary gland morphology	207	AKT1	ORPHA:2495
HP:0012503	Abnormal pituitary gland morphology	5290	PIK3CA	ORPHA:2495
HP:0012503	Abnormal pituitary gland morphology	7015	TERT	ORPHA:2495
HP:0012503	Abnormal pituitary gland morphology	51684	SUFU	ORPHA:2495
HP:0012503	Abnormal pituitary gland morphology	6605	SMARCE1	ORPHA:2495
HP:0012503	Abnormal pituitary gland morphology	1499	CTNNB1	ORPHA:54595
HP:0012503	Abnormal pituitary gland morphology	673	BRAF	ORPHA:54595
HP:0012503	Abnormal pituitary gland morphology	22827	PUF60	ORPHA:508488
HP:0012503	Abnormal pituitary gland morphology	2077	ERF	OMIM:600775
HP:0012503	Abnormal pituitary gland morphology	9289	ADGRG1	ORPHA:98889
HP:0012503	Abnormal pituitary gland morphology	5297	PI4KA	ORPHA:98889
HP:0012503	Abnormal pituitary gland morphology	27286	SRPX2	ORPHA:98889
HP:0012503	Abnormal pituitary gland morphology	23432	GPR161	ORPHA:95496
HP:0012503	Abnormal pituitary gland morphology	1859	DYRK1A	ORPHA:464311
HP:0012503	Abnormal pituitary gland morphology	1859	DYRK1A	ORPHA:268261
HP:0012503	Abnormal pituitary gland morphology	51726	DNAJB11	ORPHA:730
HP:0012503	Abnormal pituitary gland morphology	23193	GANAB	ORPHA:730
HP:0012503	Abnormal pituitary gland morphology	5310	PKD1	ORPHA:730
HP:0012503	Abnormal pituitary gland morphology	5311	PKD2	ORPHA:730
HP:0012503	Abnormal pituitary gland morphology	29880	ALG5	ORPHA:730
HP:0012503	Abnormal pituitary gland morphology	9742	IFT140	ORPHA:730
HP:0012503	Abnormal pituitary gland morphology	79796	ALG9	ORPHA:730
HP:0012503	Abnormal pituitary gland morphology	80114	BICC1	ORPHA:730
HP:0012503	Abnormal pituitary gland morphology	2488	FSHB	OMIM:229070
HP:0012503	Abnormal pituitary gland morphology	64072	CDH23	ORPHA:91347
HP:0012503	Abnormal pituitary gland morphology	64072	CDH23	ORPHA:2965
HP:0012503	Abnormal pituitary gland morphology	4221	MEN1	ORPHA:2965
HP:0012503	Abnormal pituitary gland morphology	9049	AIP	ORPHA:2965
HP:0012503	Abnormal pituitary gland morphology	8139	GAN	ORPHA:643
HP:0012503	Abnormal pituitary gland morphology	4791	NFKB2	ORPHA:293978
HP:0012503	Abnormal pituitary gland morphology	22796	COG2	ORPHA:435934
HP:0012503	Abnormal pituitary gland morphology	22796	COG2	OMIM:617395
HP:0012503	Abnormal pituitary gland morphology	9851	KIAA0753	OMIM:619476
HP:0012503	Abnormal pituitary gland morphology	9851	KIAA0753	OMIM:619479
HP:0012503	Abnormal pituitary gland morphology	30813	VSX1	OMIM:614195
HP:0012503	Abnormal pituitary gland morphology	9394	HS6ST1	OMIM:614880
HP:0012503	Abnormal pituitary gland morphology	7543	ZFX	OMIM:301118
HP:0012503	Abnormal pituitary gland morphology	55215	FANCI	OMIM:609053
HP:0012503	Abnormal pituitary gland morphology	9968	MED12	ORPHA:93932
HP:0012503	Abnormal pituitary gland morphology	6492	SIM1	ORPHA:398079
HP:0012503	Abnormal pituitary gland morphology	55131	RBM28	OMIM:612079
HP:0012503	Abnormal pituitary gland morphology	54551	MAGEL2	ORPHA:398069
HP:0012503	Abnormal pituitary gland morphology	2783	GNB2	OMIM:619503
HP:0012503	Abnormal pituitary gland morphology	23031	MAST3	OMIM:620115
HP:0012503	Abnormal pituitary gland morphology	2253	FGF8	OMIM:612702
HP:0012503	Abnormal pituitary gland morphology	26834	RNU4-2	OMIM:620851
HP:0012503	Abnormal pituitary gland morphology	2693	GHSR	OMIM:615925
HP:0012503	Abnormal pituitary gland morphology	5626	PROP1	ORPHA:95494
HP:0012503	Abnormal pituitary gland morphology	5626	PROP1	ORPHA:90695
HP:0012503	Abnormal pituitary gland morphology	2736	GLI2	ORPHA:95494
HP:0012503	Abnormal pituitary gland morphology	89884	LHX4	ORPHA:95494
HP:0012503	Abnormal pituitary gland morphology	3170	FOXA2	ORPHA:95494
HP:0012503	Abnormal pituitary gland morphology	5449	POU1F1	ORPHA:95494
HP:0012503	Abnormal pituitary gland morphology	8820	HESX1	ORPHA:95494
HP:0012503	Abnormal pituitary gland morphology	5015	OTX2	ORPHA:95494
HP:0012503	Abnormal pituitary gland morphology	8312	AXIN1	OMIM:620558
HP:0012503	Abnormal pituitary gland morphology	6658	SOX3	ORPHA:90695
HP:0012503	Abnormal pituitary gland morphology	2737	GLI3	ORPHA:672
HP:0012503	Abnormal pituitary gland morphology	3043	HBB	ORPHA:231214
HP:0012503	Abnormal pituitary gland morphology	3043	HBB	ORPHA:231226
HP:0012503	Abnormal pituitary gland morphology	2193	FARSA	OMIM:619013
HP:0012503	Abnormal pituitary gland morphology	8022	LHX3	ORPHA:226307
HP:0012503	Abnormal pituitary gland morphology	116519	APOA5	OMIM:145750
HP:0012503	Abnormal pituitary gland morphology	57688	ZSWIM6	ORPHA:1827
HP:0012503	Abnormal pituitary gland morphology	57688	ZSWIM6	OMIM:603671
HP:0012503	Abnormal pituitary gland morphology	80324	PUS1	OMIM:600462
HP:0012503	Abnormal pituitary gland morphology	257	ALX3	ORPHA:391474
HP:0012503	Abnormal pituitary gland morphology	83550	GPR101	OMIM:300942
HP:0012503	Abnormal pituitary gland morphology	91147	TMEM67	ORPHA:140976
HP:0012503	Abnormal pituitary gland morphology	8517	IKBKG	ORPHA:98813
HP:0012503	Abnormal pituitary gland morphology	4792	NFKBIA	ORPHA:98813
HP:0012503	Abnormal pituitary gland morphology	7873	MANF	OMIM:620651
HP:0012503	Abnormal pituitary gland morphology	134218	DNAJC21	ORPHA:811
HP:0012503	Abnormal pituitary gland morphology	79631	EFL1	ORPHA:811
HP:0012503	Abnormal pituitary gland morphology	51119	SBDS	ORPHA:811
HP:0012503	Abnormal pituitary gland morphology	54820	NDE1	ORPHA:2177
HP:0012504	Abnormal size of pituitary gland	4791	NFKB2	ORPHA:293978
HP:0012504	Abnormal size of pituitary gland	64072	CDH23	ORPHA:91347
HP:0012504	Abnormal size of pituitary gland	8314	BAP1	ORPHA:2495
HP:0012504	Abnormal size of pituitary gland	4771	NF2	ORPHA:2495
HP:0012504	Abnormal size of pituitary gland	6598	SMARCB1	ORPHA:2495
HP:0012504	Abnormal size of pituitary gland	5155	PDGFB	ORPHA:2495
HP:0012504	Abnormal size of pituitary gland	84231	TRAF7	ORPHA:2495
HP:0012504	Abnormal size of pituitary gland	6608	SMO	ORPHA:2495
HP:0012504	Abnormal size of pituitary gland	207	AKT1	ORPHA:2495
HP:0012504	Abnormal size of pituitary gland	5290	PIK3CA	ORPHA:2495
HP:0012504	Abnormal size of pituitary gland	7015	TERT	ORPHA:2495
HP:0012504	Abnormal size of pituitary gland	51684	SUFU	ORPHA:2495
HP:0012504	Abnormal size of pituitary gland	6605	SMARCE1	ORPHA:2495
HP:0012504	Abnormal size of pituitary gland	1499	CTNNB1	ORPHA:54595
HP:0012504	Abnormal size of pituitary gland	673	BRAF	ORPHA:54595
HP:0012504	Abnormal size of pituitary gland	22796	COG2	ORPHA:435934
HP:0012504	Abnormal size of pituitary gland	22796	COG2	OMIM:617395
HP:0012504	Abnormal size of pituitary gland	9851	KIAA0753	OMIM:619476
HP:0012504	Abnormal size of pituitary gland	9851	KIAA0753	OMIM:619479
HP:0012504	Abnormal size of pituitary gland	30813	VSX1	OMIM:614195
HP:0012504	Abnormal size of pituitary gland	9394	HS6ST1	OMIM:614880
HP:0012504	Abnormal size of pituitary gland	7543	ZFX	OMIM:301118
HP:0012504	Abnormal size of pituitary gland	55215	FANCI	OMIM:609053
HP:0012504	Abnormal size of pituitary gland	9968	MED12	ORPHA:93932
HP:0012504	Abnormal size of pituitary gland	6492	SIM1	ORPHA:398079
HP:0012504	Abnormal size of pituitary gland	55131	RBM28	OMIM:612079
HP:0012504	Abnormal size of pituitary gland	54551	MAGEL2	ORPHA:398069
HP:0012504	Abnormal size of pituitary gland	2783	GNB2	OMIM:619503
HP:0012504	Abnormal size of pituitary gland	23031	MAST3	OMIM:620115
HP:0012504	Abnormal size of pituitary gland	2253	FGF8	OMIM:612702
HP:0012504	Abnormal size of pituitary gland	26834	RNU4-2	OMIM:620851
HP:0012504	Abnormal size of pituitary gland	2693	GHSR	OMIM:615925
HP:0012504	Abnormal size of pituitary gland	54820	NDE1	ORPHA:2177
HP:0012505	Enlarged pituitary gland	64072	CDH23	ORPHA:91347
HP:0012505	Enlarged pituitary gland	8314	BAP1	ORPHA:2495
HP:0012505	Enlarged pituitary gland	4771	NF2	ORPHA:2495
HP:0012505	Enlarged pituitary gland	6598	SMARCB1	ORPHA:2495
HP:0012505	Enlarged pituitary gland	5155	PDGFB	ORPHA:2495
HP:0012505	Enlarged pituitary gland	84231	TRAF7	ORPHA:2495
HP:0012505	Enlarged pituitary gland	6608	SMO	ORPHA:2495
HP:0012505	Enlarged pituitary gland	207	AKT1	ORPHA:2495
HP:0012505	Enlarged pituitary gland	5290	PIK3CA	ORPHA:2495
HP:0012505	Enlarged pituitary gland	7015	TERT	ORPHA:2495
HP:0012505	Enlarged pituitary gland	51684	SUFU	ORPHA:2495
HP:0012505	Enlarged pituitary gland	6605	SMARCE1	ORPHA:2495
HP:0012505	Enlarged pituitary gland	1499	CTNNB1	ORPHA:54595
HP:0012505	Enlarged pituitary gland	673	BRAF	ORPHA:54595
HP:0012506	Small pituitary gland	22796	COG2	ORPHA:435934
HP:0012506	Small pituitary gland	22796	COG2	OMIM:617395
HP:0012506	Small pituitary gland	9851	KIAA0753	OMIM:619476
HP:0012506	Small pituitary gland	9851	KIAA0753	OMIM:619479
HP:0012506	Small pituitary gland	30813	VSX1	OMIM:614195
HP:0012506	Small pituitary gland	9394	HS6ST1	OMIM:614880
HP:0012506	Small pituitary gland	7543	ZFX	OMIM:301118
HP:0012506	Small pituitary gland	55215	FANCI	OMIM:609053
HP:0012506	Small pituitary gland	9968	MED12	ORPHA:93932
HP:0012506	Small pituitary gland	6492	SIM1	ORPHA:398079
HP:0012506	Small pituitary gland	55131	RBM28	OMIM:612079
HP:0012506	Small pituitary gland	54551	MAGEL2	ORPHA:398069
HP:0012506	Small pituitary gland	2783	GNB2	OMIM:619503
HP:0012506	Small pituitary gland	23031	MAST3	OMIM:620115
HP:0012506	Small pituitary gland	2253	FGF8	OMIM:612702
HP:0012506	Small pituitary gland	26834	RNU4-2	OMIM:620851
HP:0012506	Small pituitary gland	2693	GHSR	OMIM:615925
HP:0012506	Small pituitary gland	54820	NDE1	ORPHA:2177
HP:0012507	Weakness of orbicularis oculi muscle	4556	MT-TE	ORPHA:2596
HP:0012507	Weakness of orbicularis oculi muscle	4625	MYH7	ORPHA:59135
HP:0012508	Metamorphopsia	2202	EFEMP1	ORPHA:75376
HP:0012508	Metamorphopsia	3075	CFH	ORPHA:75376
HP:0012508	Metamorphopsia	3426	CFI	ORPHA:75376
HP:0012508	Metamorphopsia	8842	PROM1	ORPHA:1872
HP:0012508	Metamorphopsia	22926	ATF6	ORPHA:1872
HP:0012508	Metamorphopsia	64802	NMNAT1	ORPHA:1872
HP:0012508	Metamorphopsia	84839	RAX2	ORPHA:1872
HP:0012508	Metamorphopsia	57096	RPGRIP1	ORPHA:1872
HP:0012508	Metamorphopsia	24	ABCA4	ORPHA:1872
HP:0012508	Metamorphopsia	1261	CNGA3	ORPHA:1872
HP:0012508	Metamorphopsia	92211	CDHR1	ORPHA:1872
HP:0012508	Metamorphopsia	5956	OPN1LW	ORPHA:1872
HP:0012508	Metamorphopsia	5961	PRPH2	ORPHA:1872
HP:0012508	Metamorphopsia	5961	PRPH2	OMIM:608161
HP:0012508	Metamorphopsia	5961	PRPH2	OMIM:169150
HP:0012508	Metamorphopsia	755	CFAP410	ORPHA:1872
HP:0012508	Metamorphopsia	778	CACNA1F	ORPHA:1872
HP:0012508	Metamorphopsia	8754	ADAM9	ORPHA:1872
HP:0012508	Metamorphopsia	3000	GUCY2D	ORPHA:1872
HP:0012508	Metamorphopsia	22999	RIMS1	ORPHA:1872
HP:0012508	Metamorphopsia	128338	DRAM2	ORPHA:1872
HP:0012508	Metamorphopsia	6103	RPGR	ORPHA:1872
HP:0012508	Metamorphopsia	2652	OPN1MW	ORPHA:1872
HP:0012508	Metamorphopsia	1406	CRX	ORPHA:1872
HP:0012508	Metamorphopsia	1406	CRX	OMIM:120970
HP:0012508	Metamorphopsia	9094	UNC119	ORPHA:1872
HP:0012508	Metamorphopsia	93589	CACNA2D4	ORPHA:1872
HP:0012508	Metamorphopsia	2978	GUCA1A	ORPHA:1872
HP:0012508	Metamorphopsia	282809	POC1B	ORPHA:1872
HP:0012508	Metamorphopsia	64218	SEMA4A	ORPHA:1872
HP:0012508	Metamorphopsia	83394	PITPNM3	ORPHA:1872
HP:0012508	Metamorphopsia	23093	TTLL5	ORPHA:1872
HP:0012508	Metamorphopsia	83723	TLCD3B	ORPHA:1872
HP:0012508	Metamorphopsia	157657	CFAP418	ORPHA:1872
HP:0012508	Metamorphopsia	23746	AIPL1	ORPHA:1872
HP:0012508	Metamorphopsia	9364	RAB28	ORPHA:1872
HP:0012508	Metamorphopsia	7439	BEST1	ORPHA:1243
HP:0012508	Metamorphopsia	5167	ENPP1	ORPHA:758
HP:0012508	Metamorphopsia	368	ABCC6	ORPHA:758
HP:0012508	Metamorphopsia	8314	BAP1	ORPHA:39044
HP:0012508	Metamorphopsia	57105	CYSLTR2	ORPHA:39044
HP:0012508	Metamorphopsia	2776	GNAQ	ORPHA:39044
HP:0012508	Metamorphopsia	2767	GNA11	ORPHA:39044
HP:0012508	Metamorphopsia	23451	SF3B1	ORPHA:39044
HP:0012508	Metamorphopsia	773	CACNA1A	ORPHA:569
HP:0012508	Metamorphopsia	112476	PRRT2	ORPHA:569
HP:0012508	Metamorphopsia	6323	SCN1A	ORPHA:569
HP:0012508	Metamorphopsia	477	ATP1A2	ORPHA:569
HP:0012509	Reduced thyroxin-binding globulin	5373	PMM2	ORPHA:79318
HP:0007208	Irregular myelin loops	8898	MTMR2	OMIM:601382
HP:0007209	Facial paralysis	10312	TCIRG1	OMIM:259700
HP:0007209	Facial paralysis	79628	SH3TC2	ORPHA:99949
HP:0007209	Facial paralysis	27247	NFU1	OMIM:605711
HP:0007209	Facial paralysis	1282	COL4A1	OMIM:175780
HP:0007209	Facial paralysis	91574	MTRFR	OMIM:613559
HP:0007209	Facial paralysis	1186	CLCN7	OMIM:166600
HP:0007209	Facial paralysis	773	CACNA1A	ORPHA:569
HP:0007209	Facial paralysis	112476	PRRT2	ORPHA:569
HP:0007209	Facial paralysis	6323	SCN1A	ORPHA:569
HP:0007209	Facial paralysis	477	ATP1A2	ORPHA:569
HP:0007209	Facial paralysis	8600	TNFSF11	OMIM:259710
HP:0033338	Abnormal female meiosis	197135	PATL2	OMIM:617743
HP:0033338	Abnormal female meiosis	197135	PATL2	ORPHA:488191
HP:0033338	Abnormal female meiosis	347688	TUBB8	OMIM:616780
HP:0033338	Abnormal female meiosis	347688	TUBB8	ORPHA:488191
HP:0033338	Abnormal female meiosis	9319	TRIP13	OMIM:619011
HP:0033338	Abnormal female meiosis	24145	PANX1	ORPHA:488191
HP:0033338	Abnormal female meiosis	494551	WEE2	OMIM:617996
HP:0033338	Abnormal female meiosis	991	CDC20	OMIM:620276
HP:0033339	Increased circulating inosine concentration	4860	PNP	OMIM:613179
HP:0007200	Episodic hypersomnia	9881	TRANK1	ORPHA:33543
HP:0007201	Cerebral artery atherosclerosis	3949	LDLR	ORPHA:391665
HP:0007201	Cerebral artery atherosclerosis	255738	PCSK9	ORPHA:391665
HP:0007201	Cerebral artery atherosclerosis	26119	LDLRAP1	ORPHA:391665
HP:0007201	Cerebral artery atherosclerosis	338	APOB	ORPHA:391665
HP:0007201	Cerebral artery atherosclerosis	64240	ABCG5	ORPHA:391665
HP:0007201	Cerebral artery atherosclerosis	64241	ABCG8	ORPHA:391665
HP:0007204	Diffuse white matter abnormalities	5654	HTRA1	OMIM:600142
HP:0007204	Diffuse white matter abnormalities	9997	SCO2	OMIM:604377
HP:0007204	Diffuse white matter abnormalities	29925	GMPPB	ORPHA:370959
HP:0007204	Diffuse white matter abnormalities	79147	FKRP	ORPHA:370959
HP:0007204	Diffuse white matter abnormalities	29954	POMT2	ORPHA:370959
HP:0007204	Diffuse white matter abnormalities	84197	POMK	ORPHA:370959
HP:0007204	Diffuse white matter abnormalities	55624	POMGNT1	ORPHA:370959
HP:0007204	Diffuse white matter abnormalities	10585	POMT1	ORPHA:370959
HP:0007204	Diffuse white matter abnormalities	8925	HERC1	ORPHA:457359
HP:0007204	Diffuse white matter abnormalities	54453	RIN2	OMIM:613075
HP:0007204	Diffuse white matter abnormalities	64857	PLEKHG2	OMIM:616763
HP:0007204	Diffuse white matter abnormalities	55823	VPS11	ORPHA:466934
HP:0007204	Diffuse white matter abnormalities	92609	TIMM50	ORPHA:505216
HP:0007204	Diffuse white matter abnormalities	220296	HEPACAM	OMIM:613925
HP:0007204	Diffuse white matter abnormalities	220296	HEPACAM	OMIM:613926
HP:0007204	Diffuse white matter abnormalities	2720	GLB1	ORPHA:79255
HP:0007204	Diffuse white matter abnormalities	6792	CDKL5	ORPHA:1934
HP:0007204	Diffuse white matter abnormalities	3736	KCNA1	ORPHA:1934
HP:0007204	Diffuse white matter abnormalities	9091	PIGQ	ORPHA:1934
HP:0007204	Diffuse white matter abnormalities	140679	SLC32A1	ORPHA:1934
HP:0007204	Diffuse white matter abnormalities	2775	GNAO1	ORPHA:1934
HP:0007204	Diffuse white matter abnormalities	81603	TRIM8	ORPHA:1934
HP:0007204	Diffuse white matter abnormalities	2902	GRIN1	ORPHA:1934
HP:0007204	Diffuse white matter abnormalities	2902	GRIN1	ORPHA:208447
HP:0007204	Diffuse white matter abnormalities	79751	SLC25A22	ORPHA:1934
HP:0007204	Diffuse white matter abnormalities	150094	SIK1	ORPHA:1934
HP:0007204	Diffuse white matter abnormalities	8573	CASK	ORPHA:1934
HP:0007204	Diffuse white matter abnormalities	23312	DMXL2	ORPHA:1934
HP:0007204	Diffuse white matter abnormalities	2917	GRM7	ORPHA:1934
HP:0007204	Diffuse white matter abnormalities	170302	ARX	ORPHA:1934
HP:0007204	Diffuse white matter abnormalities	11284	PNKP	ORPHA:1934
HP:0007204	Diffuse white matter abnormalities	6326	SCN2A	ORPHA:1934
HP:0007204	Diffuse white matter abnormalities	51227	PIGP	ORPHA:1934
HP:0007204	Diffuse white matter abnormalities	6324	SCN1B	ORPHA:1934
HP:0007204	Diffuse white matter abnormalities	4761	NEUROD2	ORPHA:1934
HP:0007204	Diffuse white matter abnormalities	9990	SLC12A6	OMIM:218000
HP:0007204	Diffuse white matter abnormalities	28962	OSTM1	OMIM:259720
HP:0007204	Diffuse white matter abnormalities	5354	PLP1	ORPHA:280210
HP:0007204	Diffuse white matter abnormalities	5354	PLP1	ORPHA:280219
HP:0007206	Hemimegalencephaly	5728	PTEN	OMIM:158350
HP:0007206	Hemimegalencephaly	6608	SMO	OMIM:601707
HP:0007206	Hemimegalencephaly	3458	IFNG	OMIM:613254
HP:0007206	Hemimegalencephaly	7249	TSC2	OMIM:613254
HP:0007206	Hemimegalencephaly	7249	TSC2	OMIM:607341
HP:0007206	Hemimegalencephaly	5290	PIK3CA	ORPHA:140944
HP:0007206	Hemimegalencephaly	5290	PIK3CA	ORPHA:99802
HP:0007206	Hemimegalencephaly	2475	MTOR	OMIM:616638
HP:0007206	Hemimegalencephaly	2475	MTOR	ORPHA:99802
HP:0007206	Hemimegalencephaly	2475	MTOR	OMIM:607341
HP:0007206	Hemimegalencephaly	7248	TSC1	OMIM:191100
HP:0007206	Hemimegalencephaly	7248	TSC1	OMIM:607341
HP:0007206	Hemimegalencephaly	10000	AKT3	OMIM:615937
HP:0007206	Hemimegalencephaly	10000	AKT3	ORPHA:99802
HP:0007206	Hemimegalencephaly	9681	DEPDC5	OMIM:604364
HP:0007206	Hemimegalencephaly	9681	DEPDC5	ORPHA:98820
HP:0007206	Hemimegalencephaly	4893	NRAS	OMIM:163200
HP:0007206	Hemimegalencephaly	3845	KRAS	OMIM:163200
HP:0007206	Hemimegalencephaly	3265	HRAS	OMIM:163200
HP:0007206	Hemimegalencephaly	8131	NPRL3	ORPHA:98820
HP:0007206	Hemimegalencephaly	10641	NPRL2	ORPHA:98820
HP:0007207	Photosensitive tonic-clonic seizure	10479	SLC9A6	OMIM:300243
HP:0007207	Photosensitive tonic-clonic seizure	114327	EFHC1	ORPHA:307
HP:0007207	Photosensitive tonic-clonic seizure	2563	GABRD	ORPHA:307
HP:0007207	Photosensitive tonic-clonic seizure	1181	CLCN2	ORPHA:307
HP:0007207	Photosensitive tonic-clonic seizure	2554	GABRA1	ORPHA:307
HP:0007207	Photosensitive tonic-clonic seizure	2554	GABRA1	ORPHA:33069
HP:0007207	Photosensitive tonic-clonic seizure	3786	KCNQ3	ORPHA:307
HP:0007207	Photosensitive tonic-clonic seizure	22858	CILK1	ORPHA:307
HP:0007207	Photosensitive tonic-clonic seizure	8629	JRK	ORPHA:307
HP:0007207	Photosensitive tonic-clonic seizure	785	CACNB4	ORPHA:307
HP:0007207	Photosensitive tonic-clonic seizure	6335	SCN9A	ORPHA:33069
HP:0007207	Photosensitive tonic-clonic seizure	6326	SCN2A	ORPHA:33069
HP:0007207	Photosensitive tonic-clonic seizure	6323	SCN1A	ORPHA:33069
HP:0007207	Photosensitive tonic-clonic seizure	6324	SCN1B	ORPHA:33069
HP:0007207	Photosensitive tonic-clonic seizure	57526	PCDH19	ORPHA:33069
HP:0007207	Photosensitive tonic-clonic seizure	2566	GABRG2	ORPHA:33069
HP:0033340	Increased circulating guanosine concentration	4860	PNP	OMIM:613179
HP:0033341	Elevated circulating sitosterol concentration	64240	ABCG5	OMIM:618666
HP:0033341	Elevated circulating sitosterol concentration	64240	ABCG5	ORPHA:2882
HP:0033341	Elevated circulating sitosterol concentration	64241	ABCG8	ORPHA:2882
HP:0033341	Elevated circulating sitosterol concentration	64241	ABCG8	OMIM:210250
HP:0033342	Anti-aquaporin 4 antibody positivity	51284	TLR7	OMIM:301080
HP:0007210	Lower limb amyotrophy	23299	BICD2	OMIM:615290
HP:0007210	Lower limb amyotrophy	340075	ARSI	ORPHA:401815
HP:0007210	Lower limb amyotrophy	9197	SLC33A1	ORPHA:171863
HP:0007210	Lower limb amyotrophy	340533	NEXMIF	OMIM:300912
HP:0007210	Lower limb amyotrophy	3920	LAMP2	OMIM:300257
HP:0007210	Lower limb amyotrophy	91574	MTRFR	OMIM:615035
HP:0007210	Lower limb amyotrophy	339855	KY	ORPHA:496689
HP:0007210	Lower limb amyotrophy	9420	CYP7B1	ORPHA:100986
HP:0007210	Lower limb amyotrophy	9420	CYP7B1	OMIM:270800
HP:0007210	Lower limb amyotrophy	84665	MYPN	ORPHA:171881
HP:0007210	Lower limb amyotrophy	7169	TPM2	ORPHA:171881
HP:0007210	Lower limb amyotrophy	7170	TPM3	ORPHA:171881
HP:0007210	Lower limb amyotrophy	81545	FBXO38	OMIM:615575
HP:0007210	Lower limb amyotrophy	9255	AIMP1	OMIM:260600
HP:0007210	Lower limb amyotrophy	7994	KAT6A	OMIM:616268
HP:0007210	Lower limb amyotrophy	4744	NEFH	OMIM:616924
HP:0007210	Lower limb amyotrophy	10342	TFG	OMIM:615658
HP:0007210	Lower limb amyotrophy	64856	VWA1	OMIM:619216
HP:0007210	Lower limb amyotrophy	10229	COQ7	OMIM:620402
HP:0007210	Lower limb amyotrophy	122622	ADSS1	ORPHA:482601
HP:0007210	Lower limb amyotrophy	10020	GNE	ORPHA:602
HP:0007210	Lower limb amyotrophy	3098	HK1	ORPHA:99953
HP:0007210	Lower limb amyotrophy	4000	LMNA	OMIM:181350
HP:0007210	Lower limb amyotrophy	6253	RTN2	ORPHA:100993
HP:0007210	Lower limb amyotrophy	51271	UBAP1	ORPHA:100993
HP:0007210	Lower limb amyotrophy	10397	NDRG1	ORPHA:99950
HP:0007210	Lower limb amyotrophy	5354	PLP1	ORPHA:280210
HP:0007210	Lower limb amyotrophy	55210	ATAD3A	ORPHA:496790
HP:0007210	Lower limb amyotrophy	9927	MFN2	OMIM:617087
HP:0007210	Lower limb amyotrophy	8566	PDXK	OMIM:618511
HP:0007210	Lower limb amyotrophy	4747	NEFL	OMIM:617882
HP:0007210	Lower limb amyotrophy	10667	FARS2	OMIM:617046
HP:0007210	Lower limb amyotrophy	10667	FARS2	ORPHA:466722
HP:0007210	Lower limb amyotrophy	22880	MORC2	ORPHA:466768
HP:0007210	Lower limb amyotrophy	84668	HYCC1	OMIM:610532
HP:0007210	Lower limb amyotrophy	128486	FITM2	OMIM:618635
HP:0007210	Lower limb amyotrophy	547	KIF1A	OMIM:610357
HP:0007210	Lower limb amyotrophy	3156	HMGCR	OMIM:620375
HP:0007210	Lower limb amyotrophy	203859	ANO5	ORPHA:206549
HP:0007210	Lower limb amyotrophy	59341	TRPV4	OMIM:600175
HP:0007210	Lower limb amyotrophy	59341	TRPV4	OMIM:606071
HP:0007210	Lower limb amyotrophy	51062	ATL1	ORPHA:100984
HP:0007210	Lower limb amyotrophy	51062	ATL1	OMIM:613708
HP:0007210	Lower limb amyotrophy	51062	ATL1	OMIM:182600
HP:0007210	Lower limb amyotrophy	9997	SCO2	OMIM:604377
HP:0007210	Lower limb amyotrophy	7528	YY1	ORPHA:506358
HP:0007210	Lower limb amyotrophy	8450	CUL4B	OMIM:300354
HP:0007210	Lower limb amyotrophy	23769	FLRT1	ORPHA:320406
HP:0007210	Lower limb amyotrophy	64837	KLC2	ORPHA:320406
HP:0007210	Lower limb amyotrophy	4099	MAG	OMIM:616680
HP:0007210	Lower limb amyotrophy	4099	MAG	ORPHA:459056
HP:0007210	Lower limb amyotrophy	3094	HINT1	ORPHA:324442
HP:0007210	Lower limb amyotrophy	2318	FLNC	OMIM:614065
HP:0007210	Lower limb amyotrophy	26580	BSCL2	OMIM:619112
HP:0007210	Lower limb amyotrophy	8988	HSPB3	OMIM:613376
HP:0007210	Lower limb amyotrophy	4593	MUSK	OMIM:616325
HP:0007210	Lower limb amyotrophy	4311	MME	OMIM:617017
HP:0007210	Lower limb amyotrophy	57863	CADM3	OMIM:619519
HP:0007210	Lower limb amyotrophy	391356	PTRHD1	OMIM:620747
HP:0007210	Lower limb amyotrophy	5165	PDK3	OMIM:300905
HP:0007210	Lower limb amyotrophy	5165	PDK3	ORPHA:352675
HP:0007210	Lower limb amyotrophy	3315	HSPB1	OMIM:606595
HP:0007210	Lower limb amyotrophy	3315	HSPB1	ORPHA:99940
HP:0007210	Lower limb amyotrophy	4287	ATXN3	ORPHA:276244
HP:0007210	Lower limb amyotrophy	4287	ATXN3	ORPHA:276241
HP:0007210	Lower limb amyotrophy	4287	ATXN3	ORPHA:276238
HP:0007210	Lower limb amyotrophy	2705	GJB1	ORPHA:101075
HP:0007210	Lower limb amyotrophy	2705	GJB1	OMIM:302800
HP:0007210	Lower limb amyotrophy	2705	GJB1	ORPHA:1175
HP:0007210	Lower limb amyotrophy	9990	SLC12A6	OMIM:620068
HP:0007210	Lower limb amyotrophy	7879	RAB7A	OMIM:600882
HP:0007210	Lower limb amyotrophy	10516	FBLN5	OMIM:619764
HP:0007210	Lower limb amyotrophy	8242	KDM5C	OMIM:300534
HP:0007210	Lower limb amyotrophy	3300	DNAJB2	OMIM:614881
HP:0007210	Lower limb amyotrophy	57679	ALS2	OMIM:205100
HP:0007210	Lower limb amyotrophy	6709	SPTAN1	OMIM:620528
HP:0007210	Lower limb amyotrophy	4358	MPV17	OMIM:256810
HP:0007210	Lower limb amyotrophy	80208	SPG11	OMIM:616668
HP:0007210	Lower limb amyotrophy	4556	MT-TE	ORPHA:2596
HP:0007210	Lower limb amyotrophy	126129	CPT1C	ORPHA:444099
HP:0007210	Lower limb amyotrophy	3798	KIF5A	ORPHA:100991
HP:0007210	Lower limb amyotrophy	59345	GNB4	OMIM:615185
HP:0007210	Lower limb amyotrophy	8557	TCAP	OMIM:601954
HP:0007210	Lower limb amyotrophy	1291	COL6A1	OMIM:158810
HP:0007210	Lower limb amyotrophy	64423	INF2	OMIM:614455
HP:0007210	Lower limb amyotrophy	16	AARS1	OMIM:613287
HP:0007210	Lower limb amyotrophy	7453	WARS1	OMIM:617721
HP:0007210	Lower limb amyotrophy	9131	AIFM1	OMIM:310490
HP:0007210	Lower limb amyotrophy	2583	B4GALNT1	OMIM:609195
HP:0007210	Lower limb amyotrophy	5376	PMP22	ORPHA:90658
HP:0007210	Lower limb amyotrophy	8291	DYSF	ORPHA:45448
HP:0007210	Lower limb amyotrophy	3852	KRT5	ORPHA:79396
HP:0007210	Lower limb amyotrophy	3861	KRT14	ORPHA:79396
HP:0007210	Lower limb amyotrophy	121512	FGD4	OMIM:609311
HP:0007210	Lower limb amyotrophy	353116	RILPL1	ORPHA:98897
HP:0007210	Lower limb amyotrophy	10755	GIPC1	ORPHA:98897
HP:0007210	Lower limb amyotrophy	29967	LRP12	ORPHA:98897
HP:0007210	Lower limb amyotrophy	100996717	NOTCH2NLC	ORPHA:98897
HP:0007210	Lower limb amyotrophy	6261	RYR1	ORPHA:98905
HP:0007210	Lower limb amyotrophy	7273	TTN	OMIM:600334
HP:0007210	Lower limb amyotrophy	4625	MYH7	OMIM:160500
HP:0012510	Extra-axial cerebrospinal fluid accumulation	23299	BICD2	OMIM:618291
HP:0012510	Extra-axial cerebrospinal fluid accumulation	2898	GRIK2	OMIM:619580
HP:0012510	Extra-axial cerebrospinal fluid accumulation	129285	PPP1R21	OMIM:619383
HP:0012510	Extra-axial cerebrospinal fluid accumulation	84823	LMNB2	OMIM:619180
HP:0012510	Extra-axial cerebrospinal fluid accumulation	4001	LMNB1	OMIM:619179
HP:0012510	Extra-axial cerebrospinal fluid accumulation	10617	STAMBP	OMIM:614261
HP:0012510	Extra-axial cerebrospinal fluid accumulation	8567	MADD	OMIM:619004
HP:0012510	Extra-axial cerebrospinal fluid accumulation	8567	MADD	OMIM:619005
HP:0012510	Extra-axial cerebrospinal fluid accumulation	23404	EXOSC2	OMIM:617763
HP:0012510	Extra-axial cerebrospinal fluid accumulation	116461	TSEN15	OMIM:617026
HP:0012510	Extra-axial cerebrospinal fluid accumulation	9276	COPB2	OMIM:617800
HP:0012510	Extra-axial cerebrospinal fluid accumulation	200424	TET3	OMIM:618798
HP:0012510	Extra-axial cerebrospinal fluid accumulation	93627	TBCK	OMIM:616900
HP:0012510	Extra-axial cerebrospinal fluid accumulation	8021	NUP214	OMIM:618426
HP:0012510	Extra-axial cerebrospinal fluid accumulation	51112	TRAPPC12	OMIM:617669
HP:0012511	Temporal optic disc pallor	4099	MAG	ORPHA:459056
HP:0012511	Temporal optic disc pallor	10059	DNM1L	ORPHA:98673
HP:0012511	Temporal optic disc pallor	4976	OPA1	ORPHA:98673
HP:0012511	Temporal optic disc pallor	4976	OPA1	ORPHA:1215
HP:0012511	Temporal optic disc pallor	344658	SAMD7	OMIM:620762
HP:0012511	Temporal optic disc pallor	2202	EFEMP1	ORPHA:98977
HP:0012511	Temporal optic disc pallor	1545	CYP1B1	ORPHA:98977
HP:0012511	Temporal optic disc pallor	4653	MYOC	ORPHA:98977
HP:0012511	Temporal optic disc pallor	51102	MECR	OMIM:620629
HP:0012512	Diffuse optic disc pallor	1798	DPAGT1	ORPHA:86309
HP:0012512	Diffuse optic disc pallor	80781	COL18A1	OMIM:267750
HP:0012512	Diffuse optic disc pallor	49855	SCAPER	OMIM:618195
HP:0012512	Diffuse optic disc pallor	126792	B3GALT6	ORPHA:536467
HP:0012512	Diffuse optic disc pallor	114902	C1QTNF5	ORPHA:67042
HP:0012512	Diffuse optic disc pallor	7275	TUB	OMIM:616188
HP:0012512	Diffuse optic disc pallor	55624	POMGNT1	OMIM:617123
HP:0012512	Diffuse optic disc pallor	79797	ZNF408	OMIM:616469
HP:0012512	Diffuse optic disc pallor	138050	HGSNAT	OMIM:616544
HP:0012512	Diffuse optic disc pallor	4327	MMP19	OMIM:611543
HP:0012512	Diffuse optic disc pallor	10383	TUBB4B	OMIM:617879
HP:0012512	Diffuse optic disc pallor	1261	CNGA3	OMIM:216900
HP:0012512	Diffuse optic disc pallor	7287	TULP1	OMIM:613843
HP:0012512	Diffuse optic disc pallor	1282	COL4A1	OMIM:175780
HP:0012512	Diffuse optic disc pallor	55975	KLHL7	OMIM:612943
HP:0012513	Upper limb pain	10801	SEPTIN9	ORPHA:2901
HP:0012513	Upper limb pain	9927	MFN2	ORPHA:99947
HP:0012513	Upper limb pain	3852	KRT5	ORPHA:79400
HP:0012513	Upper limb pain	3861	KRT14	ORPHA:79400
HP:0012513	Upper limb pain	2313	FLI1	ORPHA:370348
HP:0012513	Upper limb pain	9935	MAFB	OMIM:166300
HP:0012513	Upper limb pain	567	B2M	ORPHA:314652
HP:0012513	Upper limb pain	1311	COMP	OMIM:619161
HP:0012513	Upper limb pain	3425	IDUA	OMIM:607015
HP:0012514	Lower limb pain	5654	HTRA1	ORPHA:199354
HP:0012514	Lower limb pain	9997	SCO2	OMIM:604377
HP:0012514	Lower limb pain	8575	PRKRA	ORPHA:210571
HP:0012514	Lower limb pain	8575	PRKRA	OMIM:612067
HP:0012514	Lower limb pain	7040	TGFB1	OMIM:131300
HP:0012514	Lower limb pain	4311	MME	OMIM:617018
HP:0012514	Lower limb pain	4508	MT-ATP6	ORPHA:320360
HP:0012514	Lower limb pain	5921	RASA1	ORPHA:90307
HP:0012514	Lower limb pain	4566	MT-TK	ORPHA:1349
HP:0012514	Lower limb pain	5832	ALDH18A1	ORPHA:447753
HP:0012514	Lower limb pain	6687	SPG7	ORPHA:99013
HP:0012514	Lower limb pain	10613	ERLIN1	ORPHA:401785
HP:0012514	Lower limb pain	4669	NAGLU	OMIM:616491
HP:0012514	Lower limb pain	341208	HEPHL1	OMIM:261990
HP:0012514	Lower limb pain	91662	NLRP12	OMIM:611762
HP:0012514	Lower limb pain	3868	KRT16	ORPHA:2309
HP:0012514	Lower limb pain	3872	KRT17	ORPHA:2309
HP:0012514	Lower limb pain	3853	KRT6A	ORPHA:2309
HP:0012514	Lower limb pain	3854	KRT6B	ORPHA:2309
HP:0012514	Lower limb pain	54	ACP5	ORPHA:1855
HP:0012514	Lower limb pain	1298	COL9A2	OMIM:600204
HP:0012514	Lower limb pain	9927	MFN2	ORPHA:99947
HP:0012514	Lower limb pain	3852	KRT5	ORPHA:79400
HP:0012514	Lower limb pain	3861	KRT14	ORPHA:79400
HP:0012514	Lower limb pain	10804	GJB6	ORPHA:477
HP:0012514	Lower limb pain	2706	GJB2	ORPHA:477
HP:0012514	Lower limb pain	6399	TRAPPC2	ORPHA:93284
HP:0012514	Lower limb pain	1301	COL11A1	OMIM:604841
HP:0012514	Lower limb pain	6578	SLCO2A1	OMIM:614441
HP:0012514	Lower limb pain	6578	SLCO2A1	OMIM:167100
HP:0012514	Lower limb pain	26580	BSCL2	ORPHA:100998
HP:0012514	Lower limb pain	1299	COL9A3	OMIM:600969
HP:0012514	Lower limb pain	1299	COL9A3	ORPHA:166002
HP:0012514	Lower limb pain	4010	LMX1B	ORPHA:2614
HP:0012514	Lower limb pain	1297	COL9A1	OMIM:614135
HP:0012514	Lower limb pain	1297	COL9A1	ORPHA:166002
HP:0012514	Lower limb pain	1311	COMP	ORPHA:93308
HP:0012514	Lower limb pain	1280	COL2A1	ORPHA:94068
HP:0012514	Lower limb pain	4322	MMP13	OMIM:250400
HP:0012514	Lower limb pain	4796	TONSL	ORPHA:93357
HP:0012514	Lower limb pain	567	B2M	ORPHA:314652
HP:0012514	Lower limb pain	4148	MATN3	ORPHA:93311
HP:0012514	Lower limb pain	3373	HYAL1	OMIM:601492
HP:0012514	Lower limb pain	23592	LEMD3	ORPHA:166119
HP:0012514	Lower limb pain	9935	MAFB	OMIM:166300
HP:0012515	Hip flexor weakness	9499	MYOT	ORPHA:266
HP:0012515	Hip flexor weakness	2318	FLNC	ORPHA:63273
HP:0012515	Hip flexor weakness	6329	SCN4A	ORPHA:98913
HP:0012515	Hip flexor weakness	1134	CHRNA1	ORPHA:98913
HP:0012515	Hip flexor weakness	4038	LRP4	ORPHA:98913
HP:0012515	Hip flexor weakness	1305	COL13A1	ORPHA:98913
HP:0012515	Hip flexor weakness	1140	CHRNB1	ORPHA:98913
HP:0012515	Hip flexor weakness	1144	CHRND	ORPHA:98913
HP:0012515	Hip flexor weakness	1145	CHRNE	ORPHA:98913
HP:0012515	Hip flexor weakness	4593	MUSK	ORPHA:98913
HP:0012515	Hip flexor weakness	5913	RAPSN	ORPHA:98913
HP:0012515	Hip flexor weakness	375790	AGRN	ORPHA:98913
HP:0012515	Hip flexor weakness	221264	AK9	ORPHA:98913
HP:0012515	Hip flexor weakness	285489	DOK7	ORPHA:98913
HP:0012515	Hip flexor weakness	10020	GNE	ORPHA:602
HP:0012517	Reduced circulating catalase activity	847	CAT	ORPHA:926
HP:0012517	Reduced circulating catalase activity	847	CAT	OMIM:614097
HP:0012518	Abnormal circle of Willis morphology	55901	THSD1	ORPHA:231160
HP:0012518	Abnormal circle of Willis morphology	7049	TGFBR3	ORPHA:231160
HP:0012518	Abnormal circle of Willis morphology	1281	COL3A1	ORPHA:231160
HP:0012518	Abnormal circle of Willis morphology	83854	ANGPTL6	ORPHA:231160
HP:0012518	Abnormal circle of Willis morphology	2022	ENG	ORPHA:231160
HP:0012518	Abnormal circle of Willis morphology	84667	HES7	OMIM:613686
HP:0001270	Motor delay	1145	CHRNE	OMIM:608931
HP:0001270	Motor delay	2673	GFPT1	OMIM:608931
HP:0001270	Motor delay	2673	GFPT1	OMIM:610542
HP:0001270	Motor delay	2673	GFPT1	ORPHA:353327
HP:0001270	Motor delay	54101	RIPK4	ORPHA:1401
HP:0001270	Motor delay	23135	KDM6B	OMIM:618505
HP:0001270	Motor delay	1024	CDK8	OMIM:618748
HP:0001270	Motor delay	1144	CHRND	OMIM:616323
HP:0001270	Motor delay	4919	ROR1	OMIM:617654
HP:0001270	Motor delay	10059	DNM1L	OMIM:614388
HP:0001270	Motor delay	6228	RPS23	OMIM:617412
HP:0001270	Motor delay	4897	NRCAM	OMIM:619833
HP:0001270	Motor delay	84334	COA8	ORPHA:436271
HP:0001270	Motor delay	1134	CHRNA1	OMIM:608930
HP:0001270	Motor delay	10159	ATP6AP2	ORPHA:93952
HP:0001270	Motor delay	10159	ATP6AP2	OMIM:300423
HP:0001270	Motor delay	4125	MAN2B1	ORPHA:309282
HP:0001270	Motor delay	3481	IGF2	ORPHA:231140
HP:0001270	Motor delay	3481	IGF2	ORPHA:231144
HP:0001270	Motor delay	3481	IGF2	OMIM:616489
HP:0001270	Motor delay	3481	IGF2	ORPHA:397590
HP:0001270	Motor delay	283120	H19	ORPHA:231140
HP:0001270	Motor delay	283120	H19	ORPHA:231144
HP:0001270	Motor delay	54344	DPM3	OMIM:618992
HP:0001270	Motor delay	4141	MARS1	OMIM:615486
HP:0001270	Motor delay	4141	MARS1	OMIM:620323
HP:0001270	Motor delay	283489	CHAMP1	OMIM:616579
HP:0001270	Motor delay	27245	AHDC1	ORPHA:412069
HP:0001270	Motor delay	2137	EXTL3	OMIM:617425
HP:0001270	Motor delay	2137	EXTL3	ORPHA:508533
HP:0001270	Motor delay	84466	MEGF10	OMIM:614399
HP:0001270	Motor delay	84466	MEGF10	OMIM:620249
HP:0001270	Motor delay	318	NUDT2	OMIM:619844
HP:0001270	Motor delay	9968	MED12	ORPHA:2728
HP:0001270	Motor delay	9968	MED12	OMIM:305450
HP:0001270	Motor delay	2192	FBLN1	ORPHA:404451
HP:0001270	Motor delay	284403	WDR62	OMIM:604317
HP:0001270	Motor delay	7054	TH	OMIM:605407
HP:0001270	Motor delay	7054	TH	ORPHA:101150
HP:0001270	Motor delay	55154	MSTO1	OMIM:617675
HP:0001270	Motor delay	55154	MSTO1	ORPHA:502423
HP:0001270	Motor delay	64834	ELOVL1	OMIM:618527
HP:0001270	Motor delay	1777	DNASE2	OMIM:619858
HP:0001270	Motor delay	85465	SELENOI	OMIM:618768
HP:0001270	Motor delay	54332	GDAP1	ORPHA:101097
HP:0001270	Motor delay	54332	GDAP1	OMIM:214400
HP:0001270	Motor delay	54332	GDAP1	ORPHA:99948
HP:0001270	Motor delay	54332	GDAP1	ORPHA:99944
HP:0001270	Motor delay	9401	RECQL4	OMIM:218600
HP:0001270	Motor delay	1605	DAG1	ORPHA:280333
HP:0001270	Motor delay	79147	FKRP	ORPHA:34515
HP:0001270	Motor delay	79147	FKRP	ORPHA:370968
HP:0001270	Motor delay	79147	FKRP	ORPHA:370980
HP:0001270	Motor delay	79147	FKRP	OMIM:606612
HP:0001270	Motor delay	79147	FKRP	OMIM:613153
HP:0001270	Motor delay	4330	MN1	OMIM:618774
HP:0001270	Motor delay	1594	CYP27B1	OMIM:264700
HP:0001270	Motor delay	1594	CYP27B1	ORPHA:289157
HP:0001270	Motor delay	7386	UQCRFS1	OMIM:618775
HP:0001270	Motor delay	9997	SCO2	OMIM:608908
HP:0001270	Motor delay	9997	SCO2	ORPHA:521411
HP:0001270	Motor delay	23312	DMXL2	OMIM:616113
HP:0001270	Motor delay	11193	WBP4	OMIM:620852
HP:0001270	Motor delay	26834	RNU4-2	OMIM:620851
HP:0001270	Motor delay	4747	NEFL	ORPHA:101085
HP:0001270	Motor delay	4747	NEFL	OMIM:607684
HP:0001270	Motor delay	4747	NEFL	OMIM:617882
HP:0001270	Motor delay	4747	NEFL	ORPHA:99939
HP:0001270	Motor delay	4747	NEFL	OMIM:607734
HP:0001270	Motor delay	54	ACP5	ORPHA:1855
HP:0001270	Motor delay	4359	MPZ	ORPHA:101082
HP:0001270	Motor delay	4359	MPZ	OMIM:180800
HP:0001270	Motor delay	4359	MPZ	OMIM:618184
HP:0001270	Motor delay	4359	MPZ	OMIM:145900
HP:0001270	Motor delay	1499	CTNNB1	ORPHA:404473
HP:0001270	Motor delay	1499	CTNNB1	ORPHA:891
HP:0001270	Motor delay	6261	RYR1	ORPHA:597
HP:0001270	Motor delay	6261	RYR1	OMIM:255320
HP:0001270	Motor delay	6261	RYR1	ORPHA:98905
HP:0001270	Motor delay	6261	RYR1	ORPHA:324581
HP:0001270	Motor delay	6261	RYR1	OMIM:619542
HP:0001270	Motor delay	6261	RYR1	ORPHA:424107
HP:0001270	Motor delay	6261	RYR1	OMIM:117000
HP:0001270	Motor delay	6261	RYR1	ORPHA:169186
HP:0001270	Motor delay	26154	ABCA12	OMIM:242500
HP:0001270	Motor delay	11285	B4GALT7	OMIM:130070
HP:0001270	Motor delay	1187	CLCNKA	OMIM:613090
HP:0001270	Motor delay	1187	CLCNKA	ORPHA:89938
HP:0001270	Motor delay	1188	CLCNKB	OMIM:613090
HP:0001270	Motor delay	1188	CLCNKB	ORPHA:89938
HP:0001270	Motor delay	113612	CYP2U1	OMIM:615030
HP:0001270	Motor delay	26038	CHD5	OMIM:619873
HP:0001270	Motor delay	2911	GRM1	OMIM:617691
HP:0001270	Motor delay	55621	TRMT1	OMIM:618302
HP:0001270	Motor delay	23126	POGZ	OMIM:616364
HP:0001270	Motor delay	57680	CHD8	OMIM:615032
HP:0001270	Motor delay	120227	CYP2R1	ORPHA:289157
HP:0001270	Motor delay	5357	PLS1	OMIM:618787
HP:0001270	Motor delay	51692	CPSF3	OMIM:619876
HP:0001270	Motor delay	58	ACTA1	OMIM:161800
HP:0001270	Motor delay	58	ACTA1	ORPHA:171433
HP:0001270	Motor delay	58	ACTA1	ORPHA:171430
HP:0001270	Motor delay	58	ACTA1	OMIM:620278
HP:0001270	Motor delay	58	ACTA1	ORPHA:2020
HP:0001270	Motor delay	58	ACTA1	ORPHA:171439
HP:0001270	Motor delay	1859	DYRK1A	ORPHA:464311
HP:0001270	Motor delay	9289	ADGRG1	ORPHA:101070
HP:0001270	Motor delay	9289	ADGRG1	OMIM:615752
HP:0001270	Motor delay	5728	PTEN	ORPHA:101070
HP:0001270	Motor delay	5728	PTEN	ORPHA:210548
HP:0001270	Motor delay	5728	PTEN	ORPHA:79076
HP:0001270	Motor delay	111	ADCY5	OMIM:606703
HP:0001270	Motor delay	111	ADCY5	OMIM:619647
HP:0001270	Motor delay	1615	DARS1	OMIM:615281
HP:0001270	Motor delay	253959	RALGAPA1	OMIM:618797
HP:0001270	Motor delay	6329	SCN4A	OMIM:614198
HP:0001270	Motor delay	6329	SCN4A	OMIM:620351
HP:0001270	Motor delay	6329	SCN4A	OMIM:620369
HP:0001270	Motor delay	56947	MFF	ORPHA:485421
HP:0001270	Motor delay	56947	MFF	OMIM:617086
HP:0001270	Motor delay	9772	TMEM94	OMIM:618316
HP:0001270	Motor delay	2558	GABRA5	OMIM:618559
HP:0001270	Motor delay	6901	TAFAZZIN	OMIM:302060
HP:0001270	Motor delay	124583	CANT1	OMIM:251450
HP:0001270	Motor delay	38	ACAT1	ORPHA:134
HP:0001270	Motor delay	487	ATP2A1	OMIM:601003
HP:0001270	Motor delay	23299	BICD2	OMIM:615290
HP:0001270	Motor delay	23299	BICD2	ORPHA:363454
HP:0001270	Motor delay	23299	BICD2	OMIM:618291
HP:0001270	Motor delay	7143	TNR	OMIM:619653
HP:0001270	Motor delay	6843	VAMP1	OMIM:618323
HP:0001270	Motor delay	6843	VAMP1	ORPHA:98914
HP:0001270	Motor delay	5917	RARS1	OMIM:616140
HP:0001270	Motor delay	84168	ANTXR1	OMIM:230740
HP:0001270	Motor delay	25836	NIPBL	OMIM:122470
HP:0001270	Motor delay	374969	SVBP	OMIM:618569
HP:0001270	Motor delay	51322	WAC	ORPHA:466950
HP:0001270	Motor delay	51322	WAC	ORPHA:284169
HP:0001270	Motor delay	5836	PYGL	ORPHA:369
HP:0001270	Motor delay	29110	TBK1	OMIM:620880
HP:0001270	Motor delay	25970	SH2B1	ORPHA:261197
HP:0001270	Motor delay	1523	CUX1	OMIM:618330
HP:0001270	Motor delay	55151	TMEM38B	OMIM:615066
HP:0001270	Motor delay	5081	PAX7	OMIM:618578
HP:0001270	Motor delay	5908	RAP1B	OMIM:620654
HP:0001270	Motor delay	5910	RAP1GDS1	OMIM:620655
HP:0001270	Motor delay	389827	MYMK	OMIM:254940
HP:0001270	Motor delay	7273	TTN	OMIM:611705
HP:0001270	Motor delay	7273	TTN	ORPHA:169186
HP:0001270	Motor delay	59341	TRPV4	OMIM:181405
HP:0001270	Motor delay	5813	PURA	ORPHA:314655
HP:0001270	Motor delay	435	ASL	ORPHA:23
HP:0001270	Motor delay	3480	IGF1R	ORPHA:73273
HP:0001270	Motor delay	3480	IGF1R	OMIM:270450
HP:0001270	Motor delay	3479	IGF1	ORPHA:73272
HP:0001270	Motor delay	3479	IGF1	OMIM:608747
HP:0001270	Motor delay	9361	LONP1	OMIM:600373
HP:0001270	Motor delay	4921	DDR2	OMIM:271665
HP:0001270	Motor delay	57526	PCDH19	ORPHA:101039
HP:0001270	Motor delay	4558	MT-TF	ORPHA:550
HP:0001270	Motor delay	4572	MT-TQ	ORPHA:550
HP:0001270	Motor delay	4512	MT-CO1	ORPHA:550
HP:0001270	Motor delay	4513	MT-CO2	ORPHA:550
HP:0001270	Motor delay	4514	MT-CO3	ORPHA:550
HP:0001270	Motor delay	4578	MT-TW	ORPHA:550
HP:0001270	Motor delay	4540	MT-ND5	ORPHA:550
HP:0001270	Motor delay	4541	MT-ND6	ORPHA:550
HP:0001270	Motor delay	4535	MT-ND1	ORPHA:550
HP:0001270	Motor delay	4538	MT-ND4	ORPHA:550
HP:0001270	Motor delay	4567	MT-TL1	ORPHA:550
HP:0001270	Motor delay	4574	MT-TS1	ORPHA:550
HP:0001270	Motor delay	4574	MT-TS1	OMIM:220110
HP:0001270	Motor delay	4575	MT-TS2	ORPHA:550
HP:0001270	Motor delay	4564	MT-TH	ORPHA:550
HP:0001270	Motor delay	1281	COL3A1	OMIM:618343
HP:0001270	Motor delay	1291	COL6A1	OMIM:254090
HP:0001270	Motor delay	1291	COL6A1	OMIM:158810
HP:0001270	Motor delay	84894	LINGO1	OMIM:618103
HP:0001270	Motor delay	123606	NIPA1	ORPHA:261183
HP:0001270	Motor delay	7283	TUBG1	ORPHA:261183
HP:0001270	Motor delay	81614	NIPA2	ORPHA:261183
HP:0001270	Motor delay	54517	PUS7	OMIM:618342
HP:0001270	Motor delay	53371	NUP54	OMIM:620427
HP:0001270	Motor delay	54973	INTS11	OMIM:620428
HP:0001270	Motor delay	10785	WDR4	OMIM:618347
HP:0001270	Motor delay	4967	OGDH	OMIM:203740
HP:0001270	Motor delay	90459	ERI1	OMIM:620663
HP:0001270	Motor delay	4703	NEB	OMIM:256030
HP:0001270	Motor delay	4703	NEB	ORPHA:171433
HP:0001270	Motor delay	4703	NEB	ORPHA:171430
HP:0001270	Motor delay	4703	NEB	ORPHA:171439
HP:0001270	Motor delay	2200	FBN1	ORPHA:284979
HP:0001270	Motor delay	2200	FBN1	OMIM:616914
HP:0001270	Motor delay	3708	ITPR1	ORPHA:208513
HP:0001270	Motor delay	3708	ITPR1	OMIM:117360
HP:0001270	Motor delay	3708	ITPR1	OMIM:206700
HP:0001270	Motor delay	100033413	SNORD116-1	OMIM:176270
HP:0001270	Motor delay	8924	HERC2	OMIM:176270
HP:0001270	Motor delay	23742	NPAP1	OMIM:176270
HP:0001270	Motor delay	338433	SNORD115-1	OMIM:176270
HP:0001270	Motor delay	54551	MAGEL2	OMIM:176270
HP:0001270	Motor delay	54551	MAGEL2	ORPHA:398069
HP:0001270	Motor delay	7681	MKRN3	OMIM:176270
HP:0001270	Motor delay	145624	PWAR1	OMIM:176270
HP:0001270	Motor delay	3653	IPW	OMIM:176270
HP:0001270	Motor delay	791114	PWRN1	OMIM:176270
HP:0001270	Motor delay	1120	CHKB	OMIM:602541
HP:0001270	Motor delay	10397	NDRG1	OMIM:601455
HP:0001270	Motor delay	10397	NDRG1	ORPHA:99950
HP:0001270	Motor delay	3712	IVD	ORPHA:33
HP:0001270	Motor delay	81790	RNF170	OMIM:619686
HP:0001270	Motor delay	55182	RNF220	OMIM:619688
HP:0001270	Motor delay	6492	SIM1	ORPHA:398079
HP:0001270	Motor delay	3767	KCNJ11	ORPHA:99885
HP:0001270	Motor delay	6774	STAT3	ORPHA:99885
HP:0001270	Motor delay	2645	GCK	ORPHA:99885
HP:0001270	Motor delay	3651	PDX1	ORPHA:99885
HP:0001270	Motor delay	6833	ABCC8	ORPHA:99885
HP:0001270	Motor delay	6833	ABCC8	OMIM:618857
HP:0001270	Motor delay	3630	INS	ORPHA:99885
HP:0001270	Motor delay	3417	IDH1	ORPHA:99646
HP:0001270	Motor delay	79158	GNPTAB	ORPHA:576
HP:0001270	Motor delay	29925	GMPPB	ORPHA:370968
HP:0001270	Motor delay	29925	GMPPB	OMIM:615351
HP:0001270	Motor delay	29925	GMPPB	OMIM:615352
HP:0001270	Motor delay	29925	GMPPB	ORPHA:353327
HP:0001270	Motor delay	29954	POMT2	ORPHA:370968
HP:0001270	Motor delay	29954	POMT2	OMIM:613156
HP:0001270	Motor delay	29954	POMT2	OMIM:613158
HP:0001270	Motor delay	9215	LARGE1	ORPHA:370968
HP:0001270	Motor delay	9215	LARGE1	OMIM:608840
HP:0001270	Motor delay	10585	POMT1	ORPHA:370968
HP:0001270	Motor delay	10585	POMT1	ORPHA:370980
HP:0001270	Motor delay	10585	POMT1	OMIM:609308
HP:0001270	Motor delay	57190	SELENON	OMIM:602771
HP:0001270	Motor delay	57190	SELENON	ORPHA:2020
HP:0001270	Motor delay	55777	MBD5	OMIM:156200
HP:0001270	Motor delay	5980	REV3L	ORPHA:570
HP:0001270	Motor delay	23129	PLXND1	ORPHA:570
HP:0001270	Motor delay	4784	NFIX	OMIM:602535
HP:0001270	Motor delay	4784	NFIX	ORPHA:447980
HP:0001270	Motor delay	4784	NFIX	OMIM:614753
HP:0001270	Motor delay	7084	TK2	ORPHA:254875
HP:0001270	Motor delay	8888	MCM3AP	OMIM:618124
HP:0001270	Motor delay	51434	ANAPC7	OMIM:619699
HP:0001270	Motor delay	92255	LMBRD2	OMIM:619694
HP:0001270	Motor delay	51704	GPRC5B	OMIM:620447
HP:0001270	Motor delay	4647	MYO7A	OMIM:276900
HP:0001270	Motor delay	10083	USH1C	OMIM:276900
HP:0001270	Motor delay	549	AUH	OMIM:250950
HP:0001270	Motor delay	5805	PTS	ORPHA:13
HP:0001270	Motor delay	23111	SPART	ORPHA:101000
HP:0001270	Motor delay	23111	SPART	OMIM:275900
HP:0001270	Motor delay	7809	BSND	OMIM:602522
HP:0001270	Motor delay	7809	BSND	ORPHA:89938
HP:0001270	Motor delay	84892	POMGNT2	OMIM:618135
HP:0001270	Motor delay	9757	KMT2B	OMIM:617284
HP:0001270	Motor delay	7253	TSHR	OMIM:609152
HP:0001270	Motor delay	7253	TSHR	ORPHA:99819
HP:0001270	Motor delay	7253	TSHR	ORPHA:424
HP:0001270	Motor delay	3908	LAMA2	OMIM:618138
HP:0001270	Motor delay	3908	LAMA2	OMIM:607855
HP:0001270	Motor delay	3908	LAMA2	ORPHA:258
HP:0001270	Motor delay	6304	SATB1	OMIM:619228
HP:0001270	Motor delay	6304	SATB1	OMIM:619229
HP:0001270	Motor delay	9256	TSPOAP1	OMIM:620456
HP:0001270	Motor delay	9256	TSPOAP1	ORPHA:101150
HP:0001270	Motor delay	2218	FKTN	ORPHA:370980
HP:0001270	Motor delay	2218	FKTN	OMIM:611588
HP:0001270	Motor delay	2218	FKTN	OMIM:613152
HP:0001270	Motor delay	729920	CRPPA	ORPHA:370980
HP:0001270	Motor delay	6811	STX5	OMIM:620454
HP:0001270	Motor delay	220296	HEPACAM	OMIM:613925
HP:0001270	Motor delay	220296	HEPACAM	OMIM:613926
HP:0001270	Motor delay	220296	HEPACAM	ORPHA:210548
HP:0001270	Motor delay	220296	HEPACAM	OMIM:604004
HP:0001270	Motor delay	5727	PTCH1	OMIM:109400
HP:0001270	Motor delay	84065	TMEM222	OMIM:619470
HP:0001270	Motor delay	11212	PLPBP	OMIM:617290
HP:0001270	Motor delay	84265	POLR3GL	OMIM:619234
HP:0001270	Motor delay	54809	SAMD9	OMIM:617053
HP:0001270	Motor delay	134218	DNAJC21	OMIM:617052
HP:0001270	Motor delay	10526	IPO8	OMIM:619472
HP:0001270	Motor delay	2892	GRIA3	ORPHA:364028
HP:0001270	Motor delay	10846	PDE10A	ORPHA:494526
HP:0001270	Motor delay	10846	PDE10A	OMIM:616921
HP:0001270	Motor delay	6711	SPTBN1	OMIM:619475
HP:0001270	Motor delay	8452	CUL3	OMIM:619239
HP:0001270	Motor delay	3032	HADHB	ORPHA:746
HP:0001270	Motor delay	3030	HADHA	ORPHA:746
HP:0001270	Motor delay	3181	HNRNPA2B1	OMIM:620460
HP:0001270	Motor delay	388015	RTL1	ORPHA:96184
HP:0001270	Motor delay	388015	RTL1	ORPHA:254531
HP:0001270	Motor delay	388015	RTL1	ORPHA:254525
HP:0001270	Motor delay	8788	DLK1	ORPHA:96184
HP:0001270	Motor delay	8788	DLK1	ORPHA:254531
HP:0001270	Motor delay	8788	DLK1	ORPHA:254525
HP:0001270	Motor delay	55384	MEG3	ORPHA:96184
HP:0001270	Motor delay	55384	MEG3	ORPHA:254531
HP:0001270	Motor delay	55384	MEG3	ORPHA:254525
HP:0001270	Motor delay	2887	GRB10	ORPHA:96182
HP:0001270	Motor delay	25839	COG4	OMIM:618150
HP:0001270	Motor delay	51360	MBTPS2	OMIM:308205
HP:0001270	Motor delay	7204	TRIO	OMIM:617061
HP:0001270	Motor delay	3636	INPPL1	OMIM:258480
HP:0001270	Motor delay	9325	TRIP4	OMIM:617066
HP:0001270	Motor delay	9325	TRIP4	ORPHA:486815
HP:0001270	Motor delay	203068	TUBB	OMIM:156610
HP:0001270	Motor delay	8567	MADD	OMIM:619004
HP:0001270	Motor delay	8567	MADD	OMIM:619005
HP:0001270	Motor delay	4841	NONO	OMIM:300967
HP:0001270	Motor delay	5058	PAK1	OMIM:618158
HP:0001270	Motor delay	3557	IL1RN	OMIM:612852
HP:0001270	Motor delay	50485	SMARCAL1	OMIM:242900
HP:0001270	Motor delay	10551	AGR2	OMIM:620233
HP:0001270	Motor delay	2629	GBA1	ORPHA:2072
HP:0001270	Motor delay	2629	GBA1	OMIM:231000
HP:0001270	Motor delay	84231	TRAF7	OMIM:618164
HP:0001270	Motor delay	89970	RSPRY1	ORPHA:457395
HP:0001270	Motor delay	89970	RSPRY1	OMIM:616723
HP:0001270	Motor delay	8831	SYNGAP1	OMIM:612621
HP:0001270	Motor delay	54187	NANS	OMIM:610442
HP:0001270	Motor delay	1073	CFL2	OMIM:610687
HP:0001270	Motor delay	138050	HGSNAT	OMIM:252930
HP:0001270	Motor delay	779	CACNA1S	OMIM:620246
HP:0001270	Motor delay	51082	POLR1D	OMIM:613717
HP:0001270	Motor delay	10079	ATP9A	OMIM:620242
HP:0001270	Motor delay	124093	CCDC78	OMIM:614807
HP:0001270	Motor delay	64432	MRPS25	OMIM:619025
HP:0001270	Motor delay	84842	HPDL	OMIM:619026
HP:0001270	Motor delay	5339	PLEC	OMIM:613723
HP:0001270	Motor delay	5339	PLEC	ORPHA:254361
HP:0001270	Motor delay	5256	PHKA2	OMIM:306000
HP:0001270	Motor delay	9898	UBAP2L	OMIM:620494
HP:0001270	Motor delay	283450	HECTD4	OMIM:620250
HP:0001270	Motor delay	8085	KMT2D	OMIM:147920
HP:0001270	Motor delay	7403	KDM6A	OMIM:147920
HP:0001270	Motor delay	6095	RORA	OMIM:618060
HP:0001270	Motor delay	8450	CUL4B	OMIM:300354
HP:0001270	Motor delay	6535	SLC6A8	OMIM:300352
HP:0001270	Motor delay	51102	MECR	ORPHA:508093
HP:0001270	Motor delay	27178	IL37	OMIM:619398
HP:0001270	Motor delay	10466	COG5	OMIM:613612
HP:0001270	Motor delay	10466	COG5	ORPHA:263487
HP:0001270	Motor delay	7138	TNNT1	OMIM:620389
HP:0001270	Motor delay	7138	TNNT1	ORPHA:98902
HP:0001270	Motor delay	51816	ADA2	ORPHA:820
HP:0001270	Motor delay	9839	ZEB2	OMIM:235730
HP:0001270	Motor delay	5376	PMP22	OMIM:180800
HP:0001270	Motor delay	5376	PMP22	OMIM:145900
HP:0001270	Motor delay	10093	ARPC4	OMIM:620141
HP:0001270	Motor delay	89910	UBE3B	OMIM:244450
HP:0001270	Motor delay	4010	LMX1B	ORPHA:495818
HP:0001270	Motor delay	6812	STXBP1	ORPHA:495818
HP:0001270	Motor delay	9640	ZNF592	ORPHA:83472
HP:0001270	Motor delay	84942	WDR73	ORPHA:83472
HP:0001270	Motor delay	80055	PGAP1	OMIM:615802
HP:0001270	Motor delay	7125	TNNC2	OMIM:620161
HP:0001270	Motor delay	1185	CLCN6	OMIM:619173
HP:0001270	Motor delay	64324	NSD1	OMIM:117550
HP:0001270	Motor delay	55157	DARS2	ORPHA:137898
HP:0001270	Motor delay	55157	DARS2	OMIM:611105
HP:0001270	Motor delay	8792	TNFRSF11A	OMIM:612301
HP:0001270	Motor delay	93627	TBCK	OMIM:616900
HP:0001270	Motor delay	56984	PSMG2	OMIM:619183
HP:0001270	Motor delay	64919	BCL11B	OMIM:618092
HP:0001270	Motor delay	11284	PNKP	OMIM:613402
HP:0001270	Motor delay	55636	CHD7	OMIM:214800
HP:0001270	Motor delay	3070	HELLS	OMIM:616911
HP:0001270	Motor delay	83879	CDCA7	OMIM:616910
HP:0001270	Motor delay	25942	SIN3A	OMIM:613406
HP:0001270	Motor delay	10522	DEAF1	OMIM:615828
HP:0001270	Motor delay	10522	DEAF1	OMIM:617171
HP:0001270	Motor delay	9896	FIG4	OMIM:611228
HP:0001270	Motor delay	165	AEBP1	ORPHA:536532
HP:0001270	Motor delay	165	AEBP1	OMIM:618000
HP:0001270	Motor delay	9653	HS2ST1	OMIM:619194
HP:0001270	Motor delay	3735	KARS1	OMIM:619196
HP:0001270	Motor delay	3769	KCNJ13	ORPHA:65
HP:0001270	Motor delay	343035	RD3	ORPHA:65
HP:0001270	Motor delay	145226	RDH12	ORPHA:65
HP:0001270	Motor delay	1406	CRX	ORPHA:65
HP:0001270	Motor delay	64802	NMNAT1	ORPHA:65
HP:0001270	Motor delay	57096	RPGRIP1	ORPHA:65
HP:0001270	Motor delay	80184	CEP290	ORPHA:65
HP:0001270	Motor delay	10383	TUBB4B	ORPHA:65
HP:0001270	Motor delay	9742	IFT140	ORPHA:65
HP:0001270	Motor delay	85015	USP45	ORPHA:65
HP:0001270	Motor delay	6121	RPE65	ORPHA:65
HP:0001270	Motor delay	23418	CRB1	ORPHA:65
HP:0001270	Motor delay	5130	PCYT1A	ORPHA:65
HP:0001270	Motor delay	9657	IQCB1	ORPHA:65
HP:0001270	Motor delay	392255	GDF6	ORPHA:65
HP:0001270	Motor delay	23746	AIPL1	ORPHA:65
HP:0001270	Motor delay	3000	GUCY2D	ORPHA:65
HP:0001270	Motor delay	9227	LRAT	ORPHA:65
HP:0001270	Motor delay	55812	SPATA7	ORPHA:65
HP:0001270	Motor delay	7287	TULP1	ORPHA:65
HP:0001270	Motor delay	167691	LCA5	ORPHA:65
HP:0001270	Motor delay	3614	IMPDH1	ORPHA:65
HP:0001270	Motor delay	3748	KCNC3	ORPHA:98768
HP:0001270	Motor delay	3748	KCNC3	OMIM:605259
HP:0001270	Motor delay	23345	SYNE1	ORPHA:319332
HP:0001270	Motor delay	23345	SYNE1	ORPHA:88644
HP:0001270	Motor delay	54499	TMCO1	OMIM:213980
HP:0001270	Motor delay	23137	SMC5	OMIM:620185
HP:0001270	Motor delay	1303	COL12A1	ORPHA:536516
HP:0001270	Motor delay	1303	COL12A1	OMIM:616471
HP:0001270	Motor delay	1303	COL12A1	OMIM:616470
HP:0001270	Motor delay	1737	DLAT	OMIM:245348
HP:0001270	Motor delay	492	ATP2B3	OMIM:302500
HP:0001270	Motor delay	492	ATP2B3	ORPHA:314978
HP:0001270	Motor delay	3251	HPRT1	OMIM:300322
HP:0001270	Motor delay	64419	MTMR14	OMIM:160150
HP:0001270	Motor delay	1785	DNM2	OMIM:160150
HP:0001270	Motor delay	1798	DPAGT1	OMIM:614750
HP:0001270	Motor delay	1798	DPAGT1	ORPHA:353327
HP:0001270	Motor delay	5092	PCBD1	OMIM:264070
HP:0001270	Motor delay	8242	KDM5C	OMIM:300534
HP:0001270	Motor delay	27086	FOXP1	OMIM:613670
HP:0001270	Motor delay	27086	FOXP1	ORPHA:391372
HP:0001270	Motor delay	6389	SDHA	ORPHA:3208
HP:0001270	Motor delay	6390	SDHB	ORPHA:3208
HP:0001270	Motor delay	6392	SDHD	ORPHA:3208
HP:0001270	Motor delay	644096	SDHAF1	ORPHA:3208
HP:0001270	Motor delay	1374	CPT1A	OMIM:255120
HP:0001270	Motor delay	2961	GTF2E2	OMIM:616943
HP:0001270	Motor delay	10815	CPLX1	ORPHA:352582
HP:0001270	Motor delay	57465	TBC1D24	ORPHA:352582
HP:0001270	Motor delay	57679	ALS2	OMIM:607225
HP:0001270	Motor delay	6509	SLC1A4	ORPHA:447997
HP:0001270	Motor delay	6314	ATXN7	ORPHA:94147
HP:0001270	Motor delay	226	ALDOA	ORPHA:57
HP:0001270	Motor delay	5832	ALDH18A1	ORPHA:447760
HP:0001270	Motor delay	5832	ALDH18A1	ORPHA:90348
HP:0001270	Motor delay	91252	SLC39A13	OMIM:612350
HP:0001270	Motor delay	2316	FLNA	OMIM:309350
HP:0001270	Motor delay	4208	MEF2C	OMIM:613443
HP:0001270	Motor delay	22907	DHX30	OMIM:617804
HP:0001270	Motor delay	3679	ITGA7	OMIM:613204
HP:0001270	Motor delay	3679	ITGA7	ORPHA:2020
HP:0001270	Motor delay	7407	VARS1	OMIM:617802
HP:0001270	Motor delay	4000	LMNA	OMIM:613205
HP:0001270	Motor delay	196528	ARID2	OMIM:617808
HP:0001270	Motor delay	57410	SCYL1	OMIM:616719
HP:0001270	Motor delay	4976	OPA1	OMIM:210000
HP:0001270	Motor delay	10075	HUWE1	OMIM:309590
HP:0001270	Motor delay	6323	SCN1A	OMIM:607208
HP:0001270	Motor delay	1305	COL13A1	OMIM:616720
HP:0001270	Motor delay	1305	COL13A1	ORPHA:98914
HP:0001270	Motor delay	2290	FOXG1	OMIM:613454
HP:0001270	Motor delay	23394	ADNP	OMIM:615873
HP:0001270	Motor delay	11133	KPTN	OMIM:615637
HP:0001270	Motor delay	23028	KDM1A	OMIM:616728
HP:0001270	Motor delay	26115	TANC2	OMIM:618906
HP:0001270	Motor delay	9150	CTDP1	OMIM:604168
HP:0001270	Motor delay	4854	NOTCH3	OMIM:130720
HP:0001270	Motor delay	10229	COQ7	OMIM:616733
HP:0001270	Motor delay	1806	DPYD	OMIM:274270
HP:0001270	Motor delay	23291	FBXW11	OMIM:618914
HP:0001270	Motor delay	4893	NRAS	OMIM:613224
HP:0001270	Motor delay	6334	SCN8A	OMIM:614558
HP:0001270	Motor delay	79644	SRD5A3	OMIM:612379
HP:0001270	Motor delay	79644	SRD5A3	OMIM:612713
HP:0001270	Motor delay	10982	MAPRE2	OMIM:616734
HP:0001270	Motor delay	55033	FKBP14	OMIM:614557
HP:0001270	Motor delay	55033	FKBP14	ORPHA:300179
HP:0001270	Motor delay	1959	EGR2	OMIM:605253
HP:0001270	Motor delay	1959	EGR2	OMIM:145900
HP:0001270	Motor delay	3176	HNMT	OMIM:616739
HP:0001270	Motor delay	27235	COQ2	OMIM:607426
HP:0001270	Motor delay	2332	FMR1	ORPHA:449291
HP:0001270	Motor delay	5631	PRPS1	OMIM:311070
HP:0001270	Motor delay	5631	PRPS1	ORPHA:1187
HP:0001270	Motor delay	5631	PRPS1	OMIM:300661
HP:0001270	Motor delay	116150	NUS1	OMIM:617831
HP:0001270	Motor delay	4358	MPV17	OMIM:256810
HP:0001270	Motor delay	84693	MCEE	OMIM:251120
HP:0001270	Motor delay	4982	TNFRSF11B	OMIM:239000
HP:0001270	Motor delay	23152	CIC	OMIM:617600
HP:0001270	Motor delay	10367	MICU1	OMIM:615673
HP:0001270	Motor delay	6697	SPR	ORPHA:70594
HP:0001270	Motor delay	23545	ATP6V0A2	OMIM:219200
HP:0001270	Motor delay	23545	ATP6V0A2	ORPHA:357074
HP:0001270	Motor delay	54880	BCOR	OMIM:300166
HP:0001270	Motor delay	54880	BCOR	OMIM:309800
HP:0001270	Motor delay	283989	TSEN54	ORPHA:2524
HP:0001270	Motor delay	116461	TSEN15	ORPHA:2524
HP:0001270	Motor delay	79042	TSEN34	ORPHA:2524
HP:0001270	Motor delay	80746	TSEN2	ORPHA:2524
HP:0001270	Motor delay	51091	SEPSECS	ORPHA:2524
HP:0001270	Motor delay	57688	ZSWIM6	OMIM:617865
HP:0001270	Motor delay	60482	SLC5A7	ORPHA:98914
HP:0001270	Motor delay	60482	SLC5A7	OMIM:617143
HP:0001270	Motor delay	4649	MYO9A	ORPHA:98914
HP:0001270	Motor delay	4649	MYO9A	OMIM:618198
HP:0001270	Motor delay	1103	CHAT	ORPHA:98914
HP:0001270	Motor delay	6576	SLC25A1	ORPHA:98914
HP:0001270	Motor delay	6576	SLC25A1	OMIM:618197
HP:0001270	Motor delay	375790	AGRN	ORPHA:98914
HP:0001270	Motor delay	127833	SYT2	ORPHA:98914
HP:0001270	Motor delay	127833	SYT2	OMIM:616040
HP:0001270	Motor delay	6572	SLC18A3	ORPHA:98914
HP:0001270	Motor delay	6616	SNAP25	ORPHA:98914
HP:0001270	Motor delay	5261	PHKG2	OMIM:613027
HP:0001270	Motor delay	3033	HADH	ORPHA:71212
HP:0001270	Motor delay	84628	NTNG2	OMIM:618718
HP:0001270	Motor delay	259266	ASPM	OMIM:608716
HP:0001270	Motor delay	57104	PNPLA2	ORPHA:98908
HP:0001270	Motor delay	5879	RAC1	ORPHA:500159
HP:0001270	Motor delay	84700	MYO18B	OMIM:616549
HP:0001270	Motor delay	8777	MPDZ	OMIM:615219
HP:0001270	Motor delay	23389	MED13L	OMIM:616789
HP:0001270	Motor delay	23389	MED13L	ORPHA:369891
HP:0001270	Motor delay	9939	RBM8A	OMIM:274000
HP:0001270	Motor delay	8139	GAN	OMIM:256850
HP:0001270	Motor delay	5087	PBX1	OMIM:617641
HP:0001270	Motor delay	51763	INPP5K	OMIM:617404
HP:0001270	Motor delay	523	ATP6V1A	OMIM:617403
HP:0001270	Motor delay	523	ATP6V1A	ORPHA:357074
HP:0001270	Motor delay	4654	MYOD1	OMIM:618975
HP:0001270	Motor delay	7252	TSHB	OMIM:275100
HP:0001270	Motor delay	246329	STAC3	OMIM:255995
HP:0001270	Motor delay	246329	STAC3	ORPHA:168572
HP:0001270	Motor delay	29899	GPSM2	OMIM:604213
HP:0001270	Motor delay	8367	H4C5	OMIM:619950
HP:0001270	Motor delay	104	ADARB1	OMIM:618862
HP:0001270	Motor delay	91452	ACBD5	OMIM:618863
HP:0001270	Motor delay	9853	RUSC2	OMIM:617773
HP:0001270	Motor delay	4750	NEK1	OMIM:263520
HP:0001270	Motor delay	2132	EXT2	OMIM:616682
HP:0001270	Motor delay	22880	MORC2	OMIM:616688
HP:0001270	Motor delay	10054	UBA2	OMIM:619959
HP:0001270	Motor delay	4860	PNP	OMIM:613179
HP:0001270	Motor delay	22800	RRAS2	OMIM:618624
HP:0001270	Motor delay	3703	STT3A	OMIM:619714
HP:0001270	Motor delay	57165	GJC2	OMIM:608804
HP:0001270	Motor delay	116931	MED12L	OMIM:618872
HP:0001270	Motor delay	10300	KATNB1	OMIM:616212
HP:0001270	Motor delay	7552	ZNF711	OMIM:300803
HP:0001270	Motor delay	1644	DDC	ORPHA:35708
HP:0001270	Motor delay	55790	CSGALNACT1	OMIM:618870
HP:0001270	Motor delay	80155	NAA15	OMIM:617787
HP:0001270	Motor delay	65082	VPS33A	OMIM:617303
HP:0001270	Motor delay	10730	YME1L1	OMIM:617302
HP:0001270	Motor delay	2201	FBN2	OMIM:121050
HP:0001270	Motor delay	128486	FITM2	OMIM:618635
HP:0001270	Motor delay	9200	HACD1	OMIM:619967
HP:0001270	Motor delay	9200	HACD1	ORPHA:2020
HP:0001270	Motor delay	3781	KCNN2	OMIM:619725
HP:0001270	Motor delay	6660	SOX5	ORPHA:313892
HP:0001270	Motor delay	8575	PRKRA	ORPHA:210571
HP:0001270	Motor delay	8575	PRKRA	OMIM:612067
HP:0001270	Motor delay	25885	POLR1A	OMIM:616462
HP:0001270	Motor delay	1293	COL6A3	OMIM:620726
HP:0001270	Motor delay	7528	YY1	OMIM:617557
HP:0001270	Motor delay	1292	COL6A2	OMIM:620727
HP:0001270	Motor delay	9581	PREPL	OMIM:616224
HP:0001270	Motor delay	51319	RSRC1	OMIM:618402
HP:0001270	Motor delay	55699	IARS2	ORPHA:436174
HP:0001270	Motor delay	55699	IARS2	OMIM:616007
HP:0001270	Motor delay	85365	ALG2	OMIM:616228
HP:0001270	Motor delay	85365	ALG2	OMIM:607906
HP:0001270	Motor delay	85365	ALG2	ORPHA:353327
HP:0001270	Motor delay	157680	VPS13B	OMIM:216550
HP:0001270	Motor delay	1277	COL1A1	ORPHA:287
HP:0001270	Motor delay	1289	COL5A1	ORPHA:287
HP:0001270	Motor delay	1290	COL5A2	ORPHA:287
HP:0001270	Motor delay	55149	MTPAP	ORPHA:254343
HP:0001270	Motor delay	84504	NKX6-2	OMIM:617560
HP:0001270	Motor delay	283987	HID1	OMIM:619983
HP:0001270	Motor delay	6712	SPTBN2	OMIM:615386
HP:0001270	Motor delay	84314	TMEM107	OMIM:617563
HP:0001270	Motor delay	57178	ZMIZ1	OMIM:618659
HP:0001270	Motor delay	4632	MYL1	OMIM:618414
HP:0001270	Motor delay	26057	ANKRD17	OMIM:619504
HP:0001270	Motor delay	55361	PI4K2A	OMIM:620732
HP:0001270	Motor delay	284439	SLC25A42	OMIM:618416
HP:0001270	Motor delay	253738	EBF3	OMIM:617330
HP:0001270	Motor delay	3572	IL6ST	OMIM:619751
HP:0001270	Motor delay	8260	NAA10	OMIM:309800
HP:0001270	Motor delay	4613	MYCN	OMIM:620748
HP:0001270	Motor delay	9453	GGPS1	OMIM:619518
HP:0001270	Motor delay	9841	ZBTB24	OMIM:614069
HP:0001270	Motor delay	2550	GABBR1	OMIM:620502
HP:0001270	Motor delay	7337	UBE3A	OMIM:105830
HP:0001270	Motor delay	6638	SNRPN	OMIM:105830
HP:0001270	Motor delay	8898	MTMR2	OMIM:601382
HP:0001270	Motor delay	2312	FLG	ORPHA:461
HP:0001270	Motor delay	412	STS	ORPHA:461
HP:0001270	Motor delay	8314	BAP1	OMIM:619762
HP:0001270	Motor delay	51098	IFT52	OMIM:617102
HP:0001270	Motor delay	59336	PRDM13	OMIM:619761
HP:0001270	Motor delay	59336	PRDM13	OMIM:619909
HP:0001270	Motor delay	6942	TCF20	OMIM:618430
HP:0001270	Motor delay	51341	ZBTB7A	OMIM:619769
HP:0001270	Motor delay	6925	TCF4	OMIM:610954
HP:0001270	Motor delay	57724	EPG5	OMIM:242840
HP:0001270	Motor delay	51651	PTRH2	OMIM:616263
HP:0001270	Motor delay	51651	PTRH2	ORPHA:456312
HP:0001270	Motor delay	3978	LIG1	OMIM:619774
HP:0001270	Motor delay	4123	MAN2C1	OMIM:619775
HP:0001270	Motor delay	54941	RNF125	OMIM:616260
HP:0001270	Motor delay	9922	IQSEC1	OMIM:618687
HP:0001270	Motor delay	259232	NALCN	OMIM:616266
HP:0001270	Motor delay	259232	NALCN	ORPHA:562528
HP:0001270	Motor delay	259232	NALCN	ORPHA:371364
HP:0001270	Motor delay	10848	PPP1R13L	OMIM:620519
HP:0001270	Motor delay	57479	PRR12	OMIM:619539
HP:0001270	Motor delay	6709	SPTAN1	OMIM:620528
HP:0001270	Motor delay	6709	SPTAN1	OMIM:620540
HP:0001270	Motor delay	2006	ELN	ORPHA:90348
HP:0001270	Motor delay	10516	FBLN5	ORPHA:90348
HP:0001270	Motor delay	10516	FBLN5	ORPHA:90349
HP:0001270	Motor delay	4052	LTBP1	ORPHA:90349
HP:0001270	Motor delay	30008	EFEMP2	ORPHA:90349
HP:0001270	Motor delay	85459	CEP295	OMIM:620767
HP:0001270	Motor delay	51062	ATL1	OMIM:182600
HP:0001270	Motor delay	51062	ATL1	ORPHA:100984
HP:0001270	Motor delay	79628	SH3TC2	OMIM:601596
HP:0001270	Motor delay	57505	AARS2	OMIM:614096
HP:0001270	Motor delay	51645	PPIL1	OMIM:619301
HP:0001270	Motor delay	8621	CDK13	OMIM:617360
HP:0001270	Motor delay	51117	COQ4	OMIM:616276
HP:0001270	Motor delay	93587	TRMT10A	OMIM:616033
HP:0001270	Motor delay	27133	KCNH5	OMIM:620537
HP:0001270	Motor delay	221078	NSUN6	OMIM:620779
HP:0001270	Motor delay	27145	FILIP1	OMIM:620775
HP:0001270	Motor delay	140679	SLC32A1	OMIM:620774
HP:0001270	Motor delay	7080	NKX2-1	OMIM:610978
HP:0001270	Motor delay	7080	NKX2-1	ORPHA:209905
HP:0001270	Motor delay	7080	NKX2-1	OMIM:118700
HP:0001270	Motor delay	54808	DYM	ORPHA:239
HP:0001270	Motor delay	3912	LAMB1	OMIM:615191
HP:0001270	Motor delay	23013	SPEN	OMIM:619312
HP:0001270	Motor delay	6477	SIAH1	OMIM:619314
HP:0001270	Motor delay	85476	GFM1	OMIM:609060
HP:0001270	Motor delay	83548	COG3	OMIM:620546
HP:0001270	Motor delay	4720	NDUFS2	OMIM:618228
HP:0001270	Motor delay	79903	NAA60	OMIM:620786
HP:0001270	Motor delay	203547	VMA21	OMIM:310440
HP:0001270	Motor delay	7443	VRK1	OMIM:620542
HP:0001270	Motor delay	7443	VRK1	ORPHA:2254
HP:0001270	Motor delay	7443	VRK1	OMIM:607596
HP:0001270	Motor delay	3785	KCNQ2	OMIM:121200
HP:0001270	Motor delay	5745	PTH1R	OMIM:600002
HP:0001270	Motor delay	6548	SLC9A1	OMIM:616291
HP:0001270	Motor delay	2581	GALC	ORPHA:206443
HP:0001270	Motor delay	26275	HIBCH	ORPHA:88639
HP:0001270	Motor delay	26275	HIBCH	OMIM:250620
HP:0001270	Motor delay	63895	PIEZO2	OMIM:617146
HP:0001270	Motor delay	443	ASPA	ORPHA:314918
HP:0001270	Motor delay	443	ASPA	ORPHA:314911
HP:0001270	Motor delay	1363	CPE	OMIM:619326
HP:0001270	Motor delay	8312	AXIN1	OMIM:620558
HP:0001270	Motor delay	10073	SNUPN	OMIM:620793
HP:0001270	Motor delay	7846	TUBA1A	OMIM:611603
HP:0001270	Motor delay	10166	SLC25A15	OMIM:238970
HP:0001270	Motor delay	1741	DLG3	OMIM:300850
HP:0001270	Motor delay	55967	NDUFA12	OMIM:618244
HP:0001270	Motor delay	57551	TAOK1	OMIM:619575
HP:0001270	Motor delay	25929	GEMIN5	OMIM:619333
HP:0001270	Motor delay	4621	MYH3	OMIM:193700
HP:0001270	Motor delay	9469	CHST3	ORPHA:263463
HP:0001270	Motor delay	9469	CHST3	OMIM:245600
HP:0001270	Motor delay	4128	MAOA	OMIM:300615
HP:0001270	Motor delay	7170	TPM3	OMIM:609284
HP:0001270	Motor delay	7170	TPM3	ORPHA:171433
HP:0001270	Motor delay	7170	TPM3	ORPHA:171881
HP:0001270	Motor delay	7170	TPM3	ORPHA:2020
HP:0001270	Motor delay	7170	TPM3	ORPHA:171439
HP:0001270	Motor delay	7169	TPM2	OMIM:609285
HP:0001270	Motor delay	7169	TPM2	ORPHA:171881
HP:0001270	Motor delay	7169	TPM2	ORPHA:2020
HP:0001270	Motor delay	7169	TPM2	ORPHA:171439
HP:0001270	Motor delay	5831	PYCR1	OMIM:612940
HP:0001270	Motor delay	11080	DNAJB4	OMIM:620326
HP:0001270	Motor delay	1280	COL2A1	ORPHA:94068
HP:0001270	Motor delay	1280	COL2A1	OMIM:156550
HP:0001270	Motor delay	3913	LAMB2	OMIM:609049
HP:0001270	Motor delay	55750	AGK	OMIM:212350
HP:0001270	Motor delay	2898	GRIK2	OMIM:619580
HP:0001270	Motor delay	1781	DYNC1I2	OMIM:618492
HP:0001270	Motor delay	112812	FDX2	OMIM:251900
HP:0001270	Motor delay	9509	ADAMTS2	OMIM:225410
HP:0001270	Motor delay	372	ARCN1	OMIM:617164
HP:0001270	Motor delay	23522	KAT6B	OMIM:603736
HP:0001270	Motor delay	80173	IFT74	OMIM:619582
HP:0001270	Motor delay	5277	PIGA	OMIM:300868
HP:0001270	Motor delay	2705	GJB1	OMIM:302800
HP:0001270	Motor delay	2705	GJB1	ORPHA:1175
HP:0001270	Motor delay	26040	SETBP1	OMIM:616078
HP:0001270	Motor delay	84668	HYCC1	OMIM:610532
HP:0001270	Motor delay	23594	ORC6	OMIM:613803
HP:0001270	Motor delay	1756	DMD	ORPHA:98896
HP:0001270	Motor delay	8425	LTBP4	ORPHA:98896
HP:0001270	Motor delay	64864	RFX7	OMIM:620330
HP:0001270	Motor delay	10771	ZMYND11	OMIM:616083
HP:0001270	Motor delay	5977	DPF2	OMIM:618027
HP:0001270	Motor delay	3839	KPNA3	OMIM:620106
HP:0001270	Motor delay	4534	MTM1	OMIM:310400
HP:0001270	Motor delay	113189	CHST14	OMIM:601776
HP:0001270	Motor delay	84197	POMK	OMIM:616094
HP:0001270	Motor delay	10681	GNB5	OMIM:617182
HP:0001270	Motor delay	2077	ERF	OMIM:617180
HP:0001270	Motor delay	22978	NT5C2	ORPHA:320396
HP:0001270	Motor delay	22978	NT5C2	OMIM:613162
HP:0001270	Motor delay	285590	SH3PXD2B	OMIM:249420
HP:0001270	Motor delay	374354	NHLRC2	OMIM:618278
HP:0001270	Motor delay	6197	RPS6KA3	OMIM:300844
HP:0001270	Motor delay	23287	AGTPBP1	OMIM:618276
HP:0001270	Motor delay	23287	AGTPBP1	ORPHA:2254
HP:0001270	Motor delay	118924	FRA10AC1	OMIM:620113
HP:0001270	Motor delay	4322	MMP13	OMIM:250400
HP:0001270	Motor delay	9759	HDAC4	OMIM:600430
HP:0001270	Motor delay	745	MYRF	OMIM:618280
HP:0001270	Motor delay	4693	NDP	ORPHA:891
HP:0001270	Motor delay	23554	TSPAN12	ORPHA:891
HP:0001270	Motor delay	4041	LRP5	ORPHA:891
HP:0001270	Motor delay	79797	ZNF408	ORPHA:891
HP:0001270	Motor delay	8322	FZD4	ORPHA:891
HP:0001270	Motor delay	11014	KDELR2	OMIM:619131
HP:0001270	Motor delay	4781	NFIB	OMIM:618286
HP:0001270	Motor delay	100	ADA	OMIM:102700
HP:0001270	Motor delay	2733	GLE1	OMIM:611890
HP:0001270	Motor delay	8481	OFD1	OMIM:300804
HP:0001270	Motor delay	5236	PGM1	OMIM:614921
HP:0001270	Motor delay	10295	BCKDK	OMIM:614923
HP:0001270	Motor delay	11011	TLK2	OMIM:618050
HP:0001270	Motor delay	23040	MYT1L	ORPHA:647799
HP:0001270	Motor delay	27072	VPS41	OMIM:619389
HP:0001270	Motor delay	27161	AGO2	OMIM:619149
HP:0001270	Motor delay	267	AMFR	OMIM:620379
HP:0001270	Motor delay	90523	MLIP	OMIM:620138
HP:0001270	Motor delay	161742	SPRED1	ORPHA:137605
HP:0001270	Motor delay	2690	GHR	ORPHA:633
HP:0001270	Motor delay	121340	SP7	OMIM:613849
HP:0001270	Motor delay	4702	NDUFA8	OMIM:619272
HP:0001270	Motor delay	27183	VPS4A	OMIM:619273
HP:0001270	Motor delay	58499	ZNF462	ORPHA:502430
HP:0001270	Motor delay	4570	MT-TN	OMIM:220110
HP:0001270	Motor delay	6834	SURF1	OMIM:220110
HP:0001270	Motor delay	23019	CNOT1	OMIM:619033
HP:0001270	Motor delay	55503	TRPV6	OMIM:618188
HP:0001270	Motor delay	775	CACNA1C	OMIM:620029
HP:0001270	Motor delay	8496	PPFIBP1	OMIM:620024
HP:0001270	Motor delay	4758	NEU1	ORPHA:93399
HP:0001270	Motor delay	9690	UBE3C	OMIM:620270
HP:0001270	Motor delay	2617	GARS1	OMIM:619042
HP:0001270	Motor delay	10324	KLHL41	ORPHA:171433
HP:0001270	Motor delay	10324	KLHL41	ORPHA:171430
HP:0001270	Motor delay	10324	KLHL41	OMIM:615731
HP:0001270	Motor delay	10324	KLHL41	ORPHA:171439
HP:0001270	Motor delay	9442	MED27	OMIM:619286
HP:0001270	Motor delay	131377	KLHL40	ORPHA:171430
HP:0001270	Motor delay	56203	LMOD3	ORPHA:171430
HP:0001270	Motor delay	5176	SERPINF1	OMIM:613982
HP:0001270	Motor delay	6507	SLC1A3	OMIM:612656
HP:0001270	Motor delay	5689	PSMB1	OMIM:620038
HP:0001270	Motor delay	199857	ALG14	ORPHA:353327
HP:0001270	Motor delay	51324	SPG21	OMIM:248900
HP:0001270	Motor delay	4509	MT-ATP8	ORPHA:254913
HP:0001270	Motor delay	514	ATP5F1E	ORPHA:254913
HP:0001270	Motor delay	513	ATP5F1D	ORPHA:254913
HP:0001270	Motor delay	498	ATP5F1A	ORPHA:254913
HP:0001270	Motor delay	4508	MT-ATP6	ORPHA:254913
HP:0001270	Motor delay	84833	ATP5MK	ORPHA:254913
HP:0001270	Motor delay	91647	ATPAF2	ORPHA:254913
HP:0001270	Motor delay	84665	MYPN	ORPHA:171881
HP:0001270	Motor delay	84665	MYPN	ORPHA:171439
HP:0001270	Motor delay	9739	SETD1A	OMIM:619056
HP:0001270	Motor delay	274	BIN1	OMIM:255200
HP:0001270	Motor delay	274	BIN1	ORPHA:169186
HP:0001270	Motor delay	1757	SARDH	ORPHA:3129
HP:0001270	Motor delay	191	AHCY	OMIM:613752
HP:0001270	Motor delay	36	ACADSB	OMIM:610006
HP:0001270	Motor delay	8546	AP3B1	OMIM:608233
HP:0001270	Motor delay	26523	AGO1	OMIM:620292
HP:0001270	Motor delay	8802	SUCLG1	OMIM:245400
HP:0001270	Motor delay	100303755	PET117	OMIM:619063
HP:0001270	Motor delay	4633	MYL2	ORPHA:2020
HP:0001270	Motor delay	51776	MAP3K20	ORPHA:2020
HP:0001270	Motor delay	51776	MAP3K20	OMIM:617760
HP:0001270	Motor delay	4697	NDUFA4	OMIM:619065
HP:0001270	Motor delay	60	ACTB	OMIM:607371
HP:0001270	Motor delay	657	BMPR1A	ORPHA:79076
HP:0001270	Motor delay	10382	TUBB4A	OMIM:612438
HP:0001270	Motor delay	9711	RUBCN	OMIM:615705
HP:0001270	Motor delay	374654	KIF7	OMIM:607131
HP:0001270	Motor delay	121512	FGD4	OMIM:609311
HP:0001270	Motor delay	7915	ALDH5A1	OMIM:271980
HP:0001270	Motor delay	2743	GLRB	OMIM:614619
HP:0001270	Motor delay	11340	EXOSC8	ORPHA:2254
HP:0001270	Motor delay	5393	EXOSC9	ORPHA:2254
HP:0001270	Motor delay	51010	EXOSC3	ORPHA:2254
HP:0001270	Motor delay	91137	SLC25A46	ORPHA:2254
HP:0001270	Motor delay	10290	SPEG	OMIM:615959
HP:0001270	Motor delay	10290	SPEG	ORPHA:169186
HP:0001270	Motor delay	10518	CIB2	OMIM:614869
HP:0001270	Motor delay	9990	SLC12A6	OMIM:620068
HP:0001270	Motor delay	9990	SLC12A6	OMIM:218000
HP:0001270	Motor delay	64837	KLC2	OMIM:609541
HP:0001270	Motor delay	6558	SLC12A2	OMIM:619081
HP:0001270	Motor delay	79813	EHMT1	ORPHA:261652
HP:0001270	Motor delay	58508	KMT2C	ORPHA:261652
HP:0001270	Motor delay	9321	TRIP11	OMIM:184260
HP:0001270	Motor delay	2548	GAA	ORPHA:308552
HP:0001270	Motor delay	347733	TUBB2B	OMIM:610031
HP:0001270	Motor delay	1028	CDKN1C	ORPHA:397590
HP:0001270	Motor delay	5324	PLAG1	ORPHA:397590
HP:0001270	Motor delay	8091	HMGA2	ORPHA:397590
HP:0001270	Motor delay	284217	LAMA1	OMIM:615960
HP:0001270	Motor delay	5165	PDK3	ORPHA:352675
HP:0001270	Motor delay	10430	TMEM147	OMIM:620075
HP:0001270	Motor delay	51741	WWOX	ORPHA:284282
HP:0001270	Motor delay	10743	RAI1	OMIM:182290
HP:0001270	Motor delay	2261	FGFR3	OMIM:100800
HP:0001270	Motor delay	390594	KBTBD13	ORPHA:171439
HP:0001270	Motor delay	1384	CRAT	OMIM:617917
HP:0001270	Motor delay	81846	SBF2	ORPHA:99956
HP:0001270	Motor delay	85021	REPS1	OMIM:617916
HP:0001270	Motor delay	1487	CTBP1	OMIM:617915
HP:0001270	Motor delay	84978	FRMD5	OMIM:620094
HP:0001270	Motor delay	51067	YARS2	OMIM:613561
HP:0001270	Motor delay	57716	PRX	OMIM:614895
HP:0001270	Motor delay	57716	PRX	OMIM:145900
HP:0001270	Motor delay	51053	GMNN	OMIM:616835
HP:0001270	Motor delay	2719	GPC3	OMIM:312870
HP:0001270	Motor delay	2239	GPC4	OMIM:312870
HP:0001270	Motor delay	23534	TNPO3	OMIM:608423
HP:0001270	Motor delay	1861	TOR1A	OMIM:128100
HP:0001270	Motor delay	8729	GBF1	OMIM:606483
HP:0001270	Motor delay	579	NKX3-2	OMIM:613330
HP:0001270	Motor delay	9698	PUM1	OMIM:617931
HP:0001270	Motor delay	85358	SHANK3	OMIM:606232
HP:0001270	Motor delay	22845	DOLK	ORPHA:91131
HP:0001270	Motor delay	55187	VPS13D	OMIM:607317
HP:0001270	Motor delay	3736	KCNA1	ORPHA:37612
HP:0001270	Motor delay	2542	SLC37A4	ORPHA:79259
HP:0001270	Motor delay	11253	MAN1B1	OMIM:614202
HP:0001270	Motor delay	55603	TENT5A	OMIM:617952
HP:0001270	Motor delay	26007	TKFC	OMIM:618805
HP:0001270	Motor delay	2058	EPRS1	OMIM:617951
HP:0001270	Motor delay	27315	PGAP2	OMIM:614207
HP:0001270	Motor delay	54974	THG1L	OMIM:618800
HP:0001270	Motor delay	54806	AHI1	OMIM:608629
HP:0001270	Motor delay	1641	DCX	OMIM:300067
HP:0001270	Motor delay	478	ATP1A3	ORPHA:71517
HP:0001270	Motor delay	427	ASAH1	OMIM:228000
HP:0001270	Motor delay	7421	VDR	OMIM:277440
HP:0001270	Motor delay	23395	LARS2	OMIM:615300
HP:0001270	Motor delay	11280	SCN11A	OMIM:615548
HP:0001270	Motor delay	128989	TANGO2	OMIM:616878
HP:0001270	Motor delay	65217	PCDH15	OMIM:602083
HP:0001270	Motor delay	2584	GALK1	ORPHA:79237
HP:0001270	Motor delay	11019	LIAS	OMIM:614462
HP:0001270	Motor delay	2588	GALNS	OMIM:253000
HP:0001270	Motor delay	1778	DYNC1H1	OMIM:614228
HP:0001270	Motor delay	8087	FXR1	OMIM:618822
HP:0001270	Motor delay	8087	FXR1	OMIM:618823
HP:0001270	Motor delay	285175	UNC80	ORPHA:371364
HP:0001270	Motor delay	8405	SPOP	OMIM:618828
HP:0001270	Motor delay	8405	SPOP	OMIM:618829
HP:0001270	Motor delay	26047	CNTNAP2	ORPHA:163681
HP:0001270	Motor delay	26576	SRPK3	OMIM:301134
HP:0001270	Motor delay	23209	MLC1	OMIM:604004
HP:0001270	Motor delay	6857	SYT1	ORPHA:522077
HP:0001270	Motor delay	54870	QRICH1	OMIM:617982
HP:0001270	Motor delay	83737	ITCH	OMIM:613385
HP:0001270	Motor delay	2890	GRIA1	OMIM:619927
HP:0001270	Motor delay	3295	HSD17B4	OMIM:233400
HP:0001270	Motor delay	54676	GTPBP2	OMIM:617988
HP:0001270	Motor delay	126792	B3GALT6	ORPHA:536467
HP:0001270	Motor delay	126792	B3GALT6	OMIM:615349
HP:0001270	Motor delay	374462	PTPRQ	OMIM:613391
HP:0001270	Motor delay	9320	TRIP12	OMIM:617752
HP:0001270	Motor delay	529	ATP6V1E1	ORPHA:357074
HP:0001270	Motor delay	55624	POMGNT1	OMIM:613151
HP:0001270	Motor delay	55624	POMGNT1	OMIM:613157
HP:0001270	Motor delay	51780	KDM3B	OMIM:618846
HP:0001270	Motor delay	1387	CREBBP	ORPHA:592574
HP:0001270	Motor delay	2186	BPTF	OMIM:617755
HP:0001270	Motor delay	2990	GUSB	OMIM:253220
HP:0001270	Motor delay	5718	PSMD12	OMIM:617516
HP:0001270	Motor delay	57731	SPTBN4	OMIM:617519
HP:0001270	Motor delay	166929	SGMS2	OMIM:126550
HP:0001270	Motor delay	4848	CNOT2	OMIM:618608
HP:0001270	Motor delay	9203	ZMYM3	OMIM:301111
HP:0001270	Motor delay	26229	B3GAT3	OMIM:245600
HP:0001270	Motor delay	51733	UPB1	OMIM:613161
HP:0001270	Motor delay	23404	EXOSC2	OMIM:617763
HP:0001270	Motor delay	1478	CSTF2	OMIM:301116
HP:0001270	Motor delay	8803	SUCLA2	OMIM:612073
HP:0001270	Motor delay	4858	NOVA2	OMIM:618859
HP:0001270	Motor delay	9181	ARHGEF2	OMIM:617523
HP:0001270	Motor delay	25871	NEPRO	OMIM:618853
HP:0001270	Motor delay	11113	CIT	OMIM:617090
HP:0001270	Motor delay	4625	MYH7	ORPHA:324604
HP:0001270	Motor delay	23769	FLRT1	ORPHA:320406
HP:0001270	Motor delay	5351	PLOD1	OMIM:225400
HP:0001270	Motor delay	5351	PLOD1	ORPHA:1900
HP:0001270	Motor delay	160418	TMTC3	OMIM:617255
HP:0001270	Motor delay	55605	KIF21A	ORPHA:45358
HP:0001270	Motor delay	401	PHOX2A	ORPHA:45358
HP:0001270	Motor delay	10381	TUBB3	ORPHA:45358
HP:0001270	Motor delay	10381	TUBB3	ORPHA:300570
HP:0001270	Motor delay	84570	COL25A1	ORPHA:45358
HP:0001270	Motor delay	10973	ASCC3	OMIM:620700
HP:0001270	Motor delay	4774	NFIA	OMIM:613735
HP:0001270	Motor delay	1119	CHKA	OMIM:620023
HP:0001270	Motor delay	4618	MYF6	ORPHA:169189
HP:0001270	Motor delay	81570	CLPB	ORPHA:445038
HP:0001270	Motor delay	4867	NPHP1	OMIM:609583
HP:0001270	Motor delay	55209	SETD5	ORPHA:404440
HP:0001270	Motor delay	6792	CDKL5	ORPHA:3095
HP:0001270	Motor delay	6792	CDKL5	ORPHA:505652
HP:0001270	Motor delay	22854	NTNG1	ORPHA:3095
HP:0001270	Motor delay	9568	GABBR2	ORPHA:3095
HP:0001270	Motor delay	4204	MECP2	ORPHA:3095
HP:0001270	Motor delay	8243	SMC1A	ORPHA:3095
HP:0001270	Motor delay	10978	CLP1	ORPHA:411493
HP:0001270	Motor delay	23030	KDM4B	OMIM:619320
HP:0001270	Motor delay	387787	LIPT2	OMIM:617668
HP:0001270	Motor delay	1278	COL1A2	OMIM:617821
HP:0001270	Motor delay	57156	TMEM63C	OMIM:619966
HP:0001270	Motor delay	57231	SNX14	ORPHA:397709
HP:0001270	Motor delay	57231	SNX14	OMIM:616354
HP:0001270	Motor delay	9126	SMC3	OMIM:610759
HP:0001270	Motor delay	5251	PHEX	OMIM:307800
HP:0001270	Motor delay	6609	SMPD1	ORPHA:77293
HP:0001270	Motor delay	28982	FLVCR1	ORPHA:88628
HP:0001270	Motor delay	2590	GALNT2	OMIM:618885
HP:0001270	Motor delay	24140	FTSJ1	OMIM:309549
HP:0001270	Motor delay	8913	CACNA1G	OMIM:618087
HP:0001270	Motor delay	63035	BCORL1	OMIM:301029
HP:0001270	Motor delay	80224	NUBPL	OMIM:618242
HP:0001270	Motor delay	29940	DSE	ORPHA:2953
HP:0001270	Motor delay	29940	DSE	OMIM:615539
HP:0001270	Motor delay	815	CAMK2A	OMIM:617798
HP:0001270	Motor delay	23184	MESD	OMIM:618644
HP:0001270	Motor delay	5257	PHKB	ORPHA:79240
HP:0001270	Motor delay	3183	HNRNPC	OMIM:620688
HP:0001270	Motor delay	9969	MED13	OMIM:618009
HP:0001270	Motor delay	6678	SPARC	OMIM:616507
HP:0001270	Motor delay	1000	CDH2	OMIM:618929
HP:0001270	Motor delay	6872	TAF1	ORPHA:480907
HP:0001270	Motor delay	6872	TAF1	OMIM:300966
HP:0001270	Motor delay	80856	LNPK	OMIM:618090
HP:0001270	Motor delay	271	AMPD2	ORPHA:401805
HP:0001270	Motor delay	4556	MT-TE	ORPHA:254864
HP:0001270	Motor delay	55687	TRMU	ORPHA:254864
HP:0001270	Motor delay	2744	GLS	OMIM:618412
HP:0001270	Motor delay	4297	KMT2A	ORPHA:319182
HP:0001270	Motor delay	9758	FRMPD4	OMIM:300983
HP:0001270	Motor delay	23327	NEDD4L	OMIM:617201
HP:0001270	Motor delay	833	CARS1	OMIM:618891
HP:0001270	Motor delay	3340	NDST1	OMIM:616116
HP:0001270	Motor delay	649	BMP1	OMIM:614856
HP:0001270	Motor delay	1974	EIF4A2	OMIM:620455
HP:0001270	Motor delay	326625	MMAB	OMIM:251110
HP:0001270	Motor delay	2697	GJA1	OMIM:257850
HP:0001270	Motor delay	1802	DPH2	OMIM:620062
HP:0001270	Motor delay	50801	KCNK4	OMIM:618381
HP:0001270	Motor delay	5518	PPP2R1A	OMIM:616362
HP:0001270	Motor delay	1186	CLCN7	OMIM:618541
HP:0001270	Motor delay	8812	CCNK	OMIM:618147
HP:0001270	Motor delay	1182	CLCN3	OMIM:619512
HP:0001270	Motor delay	1182	CLCN3	OMIM:619517
HP:0001270	Motor delay	9851	KIAA0753	OMIM:619479
HP:0001270	Motor delay	51095	TRNT1	OMIM:616084
HP:0001270	Motor delay	7862	BRPF1	OMIM:617333
HP:0001270	Motor delay	57498	KIDINS220	ORPHA:521390
HP:0001270	Motor delay	5063	PAK3	OMIM:300558
HP:0001270	Motor delay	51633	OTUD6B	OMIM:617452
HP:0001270	Motor delay	2517	FUCA1	OMIM:230000
HP:0001270	Motor delay	6531	SLC6A3	OMIM:613135
HP:0001270	Motor delay	51520	LARS1	OMIM:615438
HP:0001270	Motor delay	3035	HARS1	OMIM:614504
HP:0001270	Motor delay	93210	PGAP3	OMIM:615716
HP:0001270	Motor delay	10283	CWC27	ORPHA:166035
HP:0001270	Motor delay	2248	FGF3	OMIM:610706
HP:0001270	Motor delay	11198	SUPT16H	OMIM:619480
HP:0001270	Motor delay	8720	MBTPS1	OMIM:618392
HP:0001270	Motor delay	54828	BCAS3	OMIM:619641
HP:0001270	Motor delay	3198	HOXA1	OMIM:601536
HP:0001270	Motor delay	122553	TRAPPC6B	OMIM:617862
HP:0001270	Motor delay	2232	FDXR	ORPHA:543470
HP:0001270	Motor delay	23112	TNRC6B	OMIM:619243
HP:0001270	Motor delay	4849	CNOT3	OMIM:618672
HP:0001270	Motor delay	22	ABCB7	ORPHA:2802
HP:0001270	Motor delay	200424	TET3	OMIM:618798
HP:0001270	Motor delay	10297	APC2	OMIM:618677
HP:0001270	Motor delay	79971	WLS	OMIM:619648
HP:0001270	Motor delay	9562	MINPP1	OMIM:619527
HP:0001270	Motor delay	4038	LRP4	ORPHA:98913
HP:0001270	Motor delay	4038	LRP4	OMIM:212780
HP:0001270	Motor delay	1140	CHRNB1	ORPHA:98913
HP:0001270	Motor delay	4593	MUSK	ORPHA:98913
HP:0001270	Motor delay	5913	RAPSN	ORPHA:98913
HP:0001270	Motor delay	221264	AK9	ORPHA:98913
HP:0001270	Motor delay	285489	DOK7	ORPHA:98913
HP:0001270	Motor delay	3739	KCNA4	OMIM:618284
HP:0001270	Motor delay	339855	KY	ORPHA:496689
HP:0001270	Motor delay	10479	SLC9A6	ORPHA:85278
HP:0001270	Motor delay	476	ATP1A1	ORPHA:564178
HP:0001270	Motor delay	8565	YARS1	OMIM:619418
HP:0001270	Motor delay	131118	DNAJC19	ORPHA:66634
HP:0001270	Motor delay	9928	KIF14	OMIM:617914
HP:0001270	Motor delay	5557	PRIM1	OMIM:620005
HP:0001270	Motor delay	5479	PPIB	OMIM:259440
HP:0001270	Motor delay	147372	CCBE1	OMIM:235510
HP:0001270	Motor delay	79087	ALG12	ORPHA:79324
HP:0001270	Motor delay	9927	MFN2	OMIM:617087
HP:0001270	Motor delay	8295	TRRAP	OMIM:618454
HP:0001270	Motor delay	51362	CDC40	OMIM:619302
HP:0001270	Motor delay	1496	CTNNA2	OMIM:618174
HP:0001270	Motor delay	7043	TGFB3	OMIM:615582
HP:0001270	Motor delay	2033	EP300	OMIM:613684
HP:0001270	Motor delay	96459	FNIP1	OMIM:619705
HP:0001270	Motor delay	84148	KAT8	OMIM:618974
HP:0001270	Motor delay	132001	TAMM41	OMIM:620139
HP:0001270	Motor delay	7319	UBE2A	ORPHA:163956
HP:0001270	Motor delay	9373	PLAA	OMIM:617527
HP:0001270	Motor delay	9230	RAB11B	OMIM:617807
HP:0001270	Motor delay	92609	TIMM50	ORPHA:505216
HP:0001270	Motor delay	78987	CRELD1	OMIM:620771
HP:0001270	Motor delay	3516	RBPJ	OMIM:614814
HP:0001270	Motor delay	2902	GRIN1	ORPHA:208447
HP:0001270	Motor delay	5297	PI4KA	OMIM:619708
HP:0001270	Motor delay	2582	GALE	OMIM:230350
HP:0001270	Motor delay	267010	RNU12	ORPHA:512260
HP:0001270	Motor delay	26053	AUTS2	OMIM:615834
HP:0001270	Motor delay	5447	POR	ORPHA:95699
HP:0001270	Motor delay	9871	SEC24D	OMIM:616294
HP:0001270	Motor delay	119559	SFXN4	OMIM:615578
HP:0001270	Motor delay	23325	WASHC4	OMIM:615817
HP:0001270	Motor delay	1009	CDH11	OMIM:211380
HP:0001270	Motor delay	5077	PAX3	OMIM:148820
HP:0001270	Motor delay	7543	ZFX	OMIM:301118
HP:0001270	Motor delay	7840	ALMS1	ORPHA:64
HP:0001270	Motor delay	91875	TTC5	OMIM:619244
HP:0001270	Motor delay	6326	SCN2A	OMIM:618924
HP:0001270	Motor delay	55628	ZNF407	OMIM:619557
HP:0001270	Motor delay	339983	NAT8L	OMIM:614063
HP:0001270	Motor delay	340533	NEXMIF	OMIM:300912
HP:0001270	Motor delay	56896	DPYSL5	OMIM:619435
HP:0001270	Motor delay	51728	POLR3K	OMIM:619310
HP:0001270	Motor delay	64116	SLC39A8	OMIM:616721
HP:0001270	Motor delay	2495	FTH1	OMIM:620669
HP:0001270	Motor delay	8573	CASK	OMIM:300749
HP:0001270	Motor delay	7701	ZNF142	OMIM:618425
HP:0001270	Motor delay	3098	HK1	OMIM:618547
HP:0001270	Motor delay	4191	MDH2	OMIM:617339
HP:0001270	Motor delay	56623	INPP5E	OMIM:213300
HP:0001270	Motor delay	5354	PLP1	ORPHA:280219
HP:0001270	Motor delay	22859	ADGRL1	OMIM:620065
HP:0001270	Motor delay	8936	WASF1	OMIM:618707
HP:0001270	Motor delay	4983	OPHN1	OMIM:300486
HP:0001270	Motor delay	80232	WDR26	ORPHA:513456
HP:0001270	Motor delay	3020	H3-3A	OMIM:619720
HP:0001270	Motor delay	6651	SON	OMIM:617140
HP:0001270	Motor delay	10659	CELF2	OMIM:619561
HP:0001270	Motor delay	7358	UGDH	OMIM:618792
HP:0001270	Motor delay	2904	GRIN2B	OMIM:616139
HP:0001270	Motor delay	3097	HIVEP2	OMIM:616977
HP:0001270	Motor delay	5010	CLDN11	OMIM:619328
HP:0001270	Motor delay	28960	DCPS	OMIM:616459
HP:0001270	Motor delay	25782	RAB3GAP2	OMIM:212720
HP:0001270	Motor delay	55768	NGLY1	ORPHA:404454
HP:0001270	Motor delay	64221	ROBO3	OMIM:607313
HP:0001270	Motor delay	161725	OTUD7A	OMIM:620790
HP:0001270	Motor delay	84679	SLC9A7	OMIM:301024
HP:0001270	Motor delay	5934	RBL2	OMIM:619690
HP:0001270	Motor delay	23387	SIK3	OMIM:618162
HP:0001270	Motor delay	4677	NARS1	OMIM:619091
HP:0001270	Motor delay	4677	NARS1	OMIM:619092
HP:0001270	Motor delay	57020	VPS35L	OMIM:619135
HP:0001270	Motor delay	129685	TAF8	OMIM:619972
HP:0001270	Motor delay	6571	SLC18A2	OMIM:618049
HP:0001270	Motor delay	8120	AP3B2	OMIM:617276
HP:0001270	Motor delay	738	VPS51	OMIM:618606
HP:0001270	Motor delay	7994	KAT6A	OMIM:616268
HP:0001270	Motor delay	23499	MACF1	OMIM:618325
HP:0001270	Motor delay	2770	GNAI1	OMIM:619854
HP:0001270	Motor delay	5430	POLR2A	OMIM:618603
HP:0001270	Motor delay	5048	PAFAH1B1	ORPHA:95232
HP:0001270	Motor delay	51608	GET4	OMIM:620200
HP:0001270	Motor delay	54903	MKS1	OMIM:249000
HP:0001270	Motor delay	8665	EIF3F	OMIM:618295
HP:0001270	Motor delay	4761	NEUROD2	OMIM:618374
HP:0001270	Motor delay	5833	PCYT2	OMIM:618770
HP:0001270	Motor delay	81603	TRIM8	OMIM:619428
HP:0001270	Motor delay	6874	TAF4	OMIM:620450
HP:0001270	Motor delay	90952	ESAM	OMIM:620371
HP:0001270	Motor delay	8036	SHOC2	OMIM:607721
HP:0001270	Motor delay	26960	NBEA	OMIM:619157
HP:0001270	Motor delay	23241	PACS2	OMIM:618067
HP:0001270	Motor delay	27247	NFU1	OMIM:620938
HP:0001270	Motor delay	6659	SOX4	OMIM:618506
HP:0001270	Motor delay	7109	TRAPPC10	OMIM:620027
HP:0001270	Motor delay	3190	HNRNPK	ORPHA:453504
HP:0001270	Motor delay	3190	HNRNPK	ORPHA:352665
HP:0001270	Motor delay	80816	ASXL3	OMIM:615485
HP:0001270	Motor delay	55904	KMT2E	OMIM:618512
HP:0001270	Motor delay	3145	HMBS	OMIM:620711
HP:0001270	Motor delay	10501	SEMA6B	OMIM:618876
HP:0001270	Motor delay	27102	EIF2AK1	OMIM:618878
HP:0001270	Motor delay	23431	AP4E1	OMIM:613744
HP:0001270	Motor delay	9382	COG1	OMIM:611209
HP:0001270	Motor delay	6595	SMARCA2	OMIM:619293
HP:0001270	Motor delay	8029	CUBN	ORPHA:35858
HP:0001270	Motor delay	81693	AMN	ORPHA:35858
HP:0001270	Motor delay	83696	TRAPPC9	OMIM:613192
HP:0001270	Motor delay	4001	LMNB1	OMIM:619179
HP:0001270	Motor delay	23321	TRIM2	OMIM:615490
HP:0001270	Motor delay	57492	ARID1B	OMIM:135900
HP:0001270	Motor delay	80204	FBXO11	OMIM:618089
HP:0001270	Motor delay	535	ATP6V0A1	OMIM:619970
HP:0001270	Motor delay	5119	CHMP1A	OMIM:614961
HP:0001270	Motor delay	7436	VLDLR	OMIM:224050
HP:0001270	Motor delay	10716	TBR1	OMIM:606053
HP:0001270	Motor delay	84823	LMNB2	OMIM:619180
HP:0001270	Motor delay	55703	POLR3B	OMIM:619742
HP:0001270	Motor delay	23203	PMPCA	ORPHA:1170
HP:0001270	Motor delay	23203	PMPCA	OMIM:213200
HP:0001270	Motor delay	88	ACTN2	OMIM:618654
HP:0001270	Motor delay	5528	PPP2R5D	OMIM:616355
HP:0001270	Motor delay	5528	PPP2R5D	ORPHA:457279
HP:0001270	Motor delay	54872	PIGG	ORPHA:488635
HP:0001270	Motor delay	1954	MEGF8	OMIM:614976
HP:0001270	Motor delay	11160	ERLIN2	OMIM:611225
HP:0001270	Motor delay	6602	SMARCD1	OMIM:618779
HP:0001270	Motor delay	1576	CYP3A4	OMIM:619073
HP:0001270	Motor delay	2615	LRRC32	OMIM:619074
HP:0001270	Motor delay	4953	ODC1	OMIM:619075
HP:0001270	Motor delay	10717	AP4B1	OMIM:614066
HP:0001270	Motor delay	11154	AP4S1	OMIM:614067
HP:0001270	Motor delay	8558	CDK10	OMIM:617694
HP:0001270	Motor delay	57863	CADM3	OMIM:619519
HP:0001270	Motor delay	84720	PIGO	OMIM:614749
HP:0001270	Motor delay	1650	DDOST	OMIM:614507
HP:0001270	Motor delay	283209	PGM2L1	OMIM:620191
HP:0001270	Motor delay	2521	FUS	ORPHA:300605
HP:0001270	Motor delay	80208	SPG11	ORPHA:300605
HP:0001270	Motor delay	10280	SIGMAR1	ORPHA:300605
HP:0001270	Motor delay	10558	SPTLC1	ORPHA:300605
HP:0001270	Motor delay	9533	POLR1C	OMIM:616494
HP:0001270	Motor delay	53335	BCL11A	OMIM:617101
HP:0001270	Motor delay	9474	ATG5	OMIM:617584
HP:0001270	Motor delay	57466	SCAF4	OMIM:620511
HP:0001270	Motor delay	11152	WDR45	OMIM:300894
HP:0001270	Motor delay	23162	MAPK8IP3	OMIM:618443
HP:0001270	Motor delay	9725	TMEM63A	OMIM:618688
HP:0001270	Motor delay	1107	CHD3	OMIM:618205
HP:0001270	Motor delay	6567	SLC16A2	ORPHA:59
HP:0001270	Motor delay	10533	ATG7	OMIM:619422
HP:0001270	Motor delay	5888	RAD51	OMIM:617244
HP:0001270	Motor delay	22930	RAB3GAP1	OMIM:619420
HP:0001270	Motor delay	171546	SPTSSA	OMIM:620416
HP:0001270	Motor delay	171546	SPTSSA	OMIM:620417
HP:0001270	Motor delay	10664	CTCF	OMIM:615502
HP:0001270	Motor delay	8905	AP1S2	OMIM:304340
HP:0001270	Motor delay	55906	ZC4H2	OMIM:301041
HP:0001270	Motor delay	6134	RPL10	OMIM:300998
HP:0001270	Motor delay	5898	RALA	OMIM:619311
HP:0001270	Motor delay	79879	CCDC134	OMIM:619795
HP:0001270	Motor delay	54892	NCAPG2	OMIM:618460
HP:0001270	Motor delay	124997	WDR81	OMIM:610185
HP:0001270	Motor delay	10765	KDM5B	OMIM:618109
HP:0001270	Motor delay	11020	IFT27	OMIM:615996
HP:0001270	Motor delay	6418	SET	OMIM:618106
HP:0001270	Motor delay	84320	ACBD6	OMIM:620785
HP:0001270	Motor delay	5279	PIGC	OMIM:617816
HP:0001270	Motor delay	7707	ZNF148	OMIM:617260
HP:0001270	Motor delay	10847	SRCAP	OMIM:136140
HP:0001270	Motor delay	5515	PPP2CA	OMIM:618354
HP:0001270	Motor delay	23114	NFASC	OMIM:618356
HP:0001270	Motor delay	57520	HECW2	OMIM:617268
HP:0001270	Motor delay	80347	COASY	OMIM:615643
HP:0001270	Motor delay	23524	SRRM2	OMIM:620439
HP:0001270	Motor delay	8890	EIF2B4	OMIM:620314
HP:0001270	Motor delay	6263	RYR3	OMIM:620310
HP:0001270	Motor delay	26224	FBXL3	OMIM:606220
HP:0001270	Motor delay	90161	HS6ST2	OMIM:301025
HP:0001270	Motor delay	1725	DHPS	OMIM:618480
HP:0001270	Motor delay	4694	NDUFA1	OMIM:301020
HP:0001270	Motor delay	10735	STAG2	OMIM:301022
HP:0001270	Motor delay	79641	ROGDI	OMIM:226750
HP:0001270	Motor delay	54496	PRMT7	OMIM:617157
HP:0001270	Motor delay	182	JAG1	OMIM:619574
HP:0001270	Motor delay	10342	TFG	OMIM:615658
HP:0001270	Motor delay	54463	RETREG1	OMIM:613115
HP:0001270	Motor delay	84188	FAR1	OMIM:619338
HP:0001270	Motor delay	64131	XYLT1	OMIM:615777
HP:0001270	Motor delay	9675	TTI1	OMIM:620445
HP:0001270	Motor delay	20	ABCA2	OMIM:618808
HP:0001270	Motor delay	51185	CRBN	OMIM:607417
HP:0001270	Motor delay	80311	KLHL15	OMIM:300982
HP:0001270	Motor delay	10943	MSL3	OMIM:301032
HP:0001270	Motor delay	63931	MRPS14	OMIM:618378
HP:0001270	Motor delay	22808	MRAS	OMIM:618499
HP:0001270	Motor delay	54681	P4HTM	OMIM:618493
HP:0001270	Motor delay	80185	TTI2	OMIM:615541
HP:0001270	Motor delay	54664	TMEM106B	OMIM:617964
HP:0001270	Motor delay	3930	LBR	OMIM:618019
HP:0001270	Motor delay	27107	ZBTB11	OMIM:618383
HP:0001270	Motor delay	22866	CNKSR2	OMIM:301008
HP:0001270	Motor delay	80036	TRPM3	OMIM:620224
HP:0001270	Motor delay	1457	CSNK2A1	OMIM:617062
HP:0001270	Motor delay	200894	ARL13B	OMIM:612291
HP:0001270	Motor delay	6472	SHMT2	OMIM:619121
HP:0001270	Motor delay	23233	EXOC6B	OMIM:618395
HP:0001270	Motor delay	28952	CCDC22	OMIM:300963
HP:0001270	Motor delay	79143	MBOAT7	OMIM:617188
HP:0001270	Motor delay	2893	GRIA4	OMIM:617864
HP:0001270	Motor delay	4047	LSS	OMIM:618840
HP:0001270	Motor delay	54802	TRIT1	OMIM:617873
HP:0001270	Motor delay	23154	NCDN	OMIM:619373
HP:0001270	Motor delay	1315	COPB1	OMIM:619255
HP:0001270	Motor delay	81615	TMEM163	OMIM:620243
HP:0001270	Motor delay	1795	DOCK3	OMIM:618292
HP:0001270	Motor delay	221927	BRAT1	OMIM:618056
HP:0001270	Motor delay	4281	MID1	ORPHA:2745
HP:0001270	Motor delay	1460	CSNK2B	OMIM:618732
HP:0001270	Motor delay	22868	FASTKD2	OMIM:618855
HP:0001270	Motor delay	57194	ATP10A	ORPHA:411515
HP:0001270	Motor delay	57128	LYRM4	OMIM:615595
HP:0001270	Motor delay	1020	CDK5	OMIM:616342
HP:0001270	Motor delay	55180	LINS1	OMIM:614340
HP:0001270	Motor delay	125988	MICOS13	OMIM:618329
HP:0001270	Motor delay	816	CAMK2B	OMIM:617799
HP:0001270	Motor delay	1317	SLC31A1	OMIM:620306
HP:0001270	Motor delay	51126	NAA20	OMIM:619717
HP:0001270	Motor delay	50628	GEMIN4	OMIM:617913
HP:0001270	Motor delay	7360	UGP2	OMIM:618744
HP:0001270	Motor delay	2019	EN1	OMIM:619218
HP:0001270	Motor delay	10056	FARSB	OMIM:613658
HP:0001270	Motor delay	84081	NSRP1	OMIM:620001
HP:0001270	Motor delay	6050	RNH1	OMIM:620461
HP:0001270	Motor delay	8604	SLC25A12	OMIM:612949
HP:0001270	Motor delay	7317	UBA1	OMIM:301830
HP:0001270	Motor delay	1352	COX10	OMIM:619046
HP:0001270	Motor delay	871	SERPINH1	OMIM:613848
HP:0001270	Motor delay	90522	YIF1B	OMIM:619125
HP:0007215	Periodic hyperkalemic paralysis	6329	SCN4A	ORPHA:682
HP:0007215	Periodic hyperkalemic paralysis	6329	SCN4A	OMIM:170500
HP:0007215	Periodic hyperkalemic paralysis	3762	KCNJ5	ORPHA:37553
HP:0007215	Periodic hyperkalemic paralysis	3759	KCNJ2	ORPHA:37553
HP:0033343	Mucoid diarrhea	59067	IL21	OMIM:615767
HP:0033345	Neuralgia	5621	PRNP	ORPHA:282166
HP:0033345	Neuralgia	79628	SH3TC2	ORPHA:99949
HP:0033345	Neuralgia	8314	BAP1	ORPHA:2495
HP:0033345	Neuralgia	4771	NF2	ORPHA:2495
HP:0033345	Neuralgia	6598	SMARCB1	ORPHA:2495
HP:0033345	Neuralgia	5155	PDGFB	ORPHA:2495
HP:0033345	Neuralgia	84231	TRAF7	ORPHA:2495
HP:0033345	Neuralgia	6608	SMO	ORPHA:2495
HP:0033345	Neuralgia	207	AKT1	ORPHA:2495
HP:0033345	Neuralgia	5290	PIK3CA	ORPHA:2495
HP:0033345	Neuralgia	7015	TERT	ORPHA:2495
HP:0033345	Neuralgia	51684	SUFU	ORPHA:2495
HP:0033345	Neuralgia	6605	SMARCE1	ORPHA:2495
HP:0033347	Cognitive epileptic aura	51083	GAL	OMIM:616461
HP:0033346	Psychic epileptic aura	5138	PDE2A	ORPHA:31709
HP:0033346	Psychic epileptic aura	6334	SCN8A	ORPHA:31709
HP:0033346	Psychic epileptic aura	112476	PRRT2	ORPHA:31709
HP:0033346	Psychic epileptic aura	9211	LGI1	OMIM:600512
HP:0033346	Psychic epileptic aura	5649	RELN	OMIM:600512
HP:0033346	Psychic epileptic aura	64780	MICAL1	OMIM:600512
HP:0033346	Psychic epileptic aura	51083	GAL	OMIM:616461
HP:0033346	Psychic epileptic aura	8131	NPRL3	ORPHA:98820
HP:0033346	Psychic epileptic aura	10641	NPRL2	ORPHA:98820
HP:0033346	Psychic epileptic aura	9681	DEPDC5	ORPHA:98820
HP:0033349	Seizure cluster	8243	SMC1A	OMIM:301044
HP:0033349	Seizure cluster	135	ADORA2A	ORPHA:363549
HP:0033348	Epileptic aura	3736	KCNA1	ORPHA:98809
HP:0033348	Epileptic aura	112476	PRRT2	ORPHA:98809
HP:0033348	Epileptic aura	112476	PRRT2	OMIM:602066
HP:0033348	Epileptic aura	112476	PRRT2	ORPHA:569
HP:0033348	Epileptic aura	9289	ADGRG1	ORPHA:98889
HP:0033348	Epileptic aura	5297	PI4KA	ORPHA:98889
HP:0033348	Epileptic aura	27286	SRPX2	ORPHA:98889
HP:0033348	Epileptic aura	773	CACNA1A	ORPHA:569
HP:0033348	Epileptic aura	6323	SCN1A	ORPHA:569
HP:0033348	Epileptic aura	477	ATP1A2	ORPHA:569
HP:0033348	Epileptic aura	5649	RELN	OMIM:616436
HP:0033348	Epileptic aura	5649	RELN	OMIM:600512
HP:0033348	Epileptic aura	9211	LGI1	OMIM:600512
HP:0033348	Epileptic aura	64780	MICAL1	OMIM:600512
HP:0033348	Epileptic aura	11277	TREX1	ORPHA:247691
HP:0033348	Epileptic aura	7957	EPM2A	OMIM:254780
HP:0033348	Epileptic aura	7957	EPM2A	ORPHA:501
HP:0033348	Epileptic aura	6900	CNTN2	OMIM:615400
HP:0033348	Epileptic aura	378884	NHLRC1	ORPHA:501
HP:0033348	Epileptic aura	5138	PDE2A	ORPHA:31709
HP:0033348	Epileptic aura	6334	SCN8A	ORPHA:31709
HP:0033348	Epileptic aura	8131	NPRL3	ORPHA:98820
HP:0033348	Epileptic aura	10641	NPRL2	ORPHA:98820
HP:0033348	Epileptic aura	9681	DEPDC5	ORPHA:98820
HP:0033348	Epileptic aura	57526	PCDH19	OMIM:300088
HP:0033348	Epileptic aura	51083	GAL	OMIM:616461
HP:0033351	Candida esophagitis	5293	PIK3CD	OMIM:619281
HP:0033351	Candida esophagitis	84818	IL17RC	OMIM:616445
HP:0033351	Candida esophagitis	55072	RNF31	OMIM:620632
HP:0033351	Candida esophagitis	6774	STAT3	OMIM:147060
HP:0033351	Candida esophagitis	7040	TGFB1	OMIM:618213
HP:0007220	Demyelinating motor neuropathy	246243	RNASEH1	OMIM:616479
HP:0007220	Demyelinating motor neuropathy	85465	SELENOI	ORPHA:506353
HP:0007220	Demyelinating motor neuropathy	57165	GJC2	OMIM:608804
HP:0007220	Demyelinating motor neuropathy	10342	TFG	OMIM:615658
HP:0007220	Demyelinating motor neuropathy	4747	NEFL	ORPHA:99939
HP:0007220	Demyelinating motor neuropathy	4747	NEFL	ORPHA:101085
HP:0007220	Demyelinating motor neuropathy	57731	SPTBN4	OMIM:617519
HP:0007221	Progressive truncal ataxia	154881	KCTD7	ORPHA:263516
HP:0007221	Progressive truncal ataxia	26278	SACS	OMIM:270550
HP:0007305	CNS demyelination	1161	ERCC8	OMIM:216400
HP:0007305	CNS demyelination	1161	ERCC8	ORPHA:90322
HP:0007305	CNS demyelination	2067	ERCC1	ORPHA:90322
HP:0007305	CNS demyelination	2670	GFAP	OMIM:203450
HP:0007305	CNS demyelination	5654	HTRA1	OMIM:600142
HP:0007305	CNS demyelination	113179	ADAT3	ORPHA:363528
HP:0007305	CNS demyelination	54872	PIGG	ORPHA:488635
HP:0007305	CNS demyelination	25974	MMACHC	ORPHA:79282
HP:0007305	CNS demyelination	5631	PRPS1	ORPHA:1187
HP:0007305	CNS demyelination	29920	PYCR2	ORPHA:481152
HP:0007305	CNS demyelination	93587	TRMT10A	ORPHA:391408
HP:0007305	CNS demyelination	84919	PPP1R15B	ORPHA:391408
HP:0007305	CNS demyelination	79944	L2HGDH	OMIM:236792
HP:0007305	CNS demyelination	2074	ERCC6	OMIM:214150
HP:0007305	CNS demyelination	51	ACOX1	OMIM:264470
HP:0007305	CNS demyelination	10128	LRPPRC	OMIM:220111
HP:0007305	CNS demyelination	473	RERE	ORPHA:494344
HP:0007305	CNS demyelination	443	ASPA	OMIM:271900
HP:0007305	CNS demyelination	1436	CSF1R	OMIM:221820
HP:0007305	CNS demyelination	4547	MTTP	OMIM:200100
HP:0007305	CNS demyelination	7143	TNR	OMIM:619653
HP:0007305	CNS demyelination	215	ABCD1	ORPHA:139396
HP:0007305	CNS demyelination	1593	CYP27A1	ORPHA:909
HP:0007305	CNS demyelination	5173	PDYN	OMIM:610245
HP:0007305	CNS demyelination	54148	MRPL39	OMIM:620646
HP:0007305	CNS demyelination	5824	PEX19	OMIM:614886
HP:0007305	CNS demyelination	2744	GLS	OMIM:618328
HP:0007305	CNS demyelination	3643	INSR	ORPHA:769
HP:0007305	CNS demyelination	4143	MAT1A	OMIM:250850
HP:0007305	CNS demyelination	8496	PPFIBP1	OMIM:620024
HP:0007305	CNS demyelination	285362	SUMF1	OMIM:272200
HP:0007305	CNS demyelination	224	ALDH3A2	OMIM:270200
HP:0007305	CNS demyelination	1967	EIF2B1	OMIM:603896
HP:0007305	CNS demyelination	54209	TREM2	OMIM:618193
HP:0007305	CNS demyelination	5551	PRF1	OMIM:603553
HP:0007305	CNS demyelination	5660	PSAP	OMIM:249900
HP:0007305	CNS demyelination	5660	PSAP	OMIM:611721
HP:0007305	CNS demyelination	11277	TREX1	OMIM:225750
HP:0007305	CNS demyelination	2581	GALC	OMIM:245200
HP:0007305	CNS demyelination	2581	GALC	ORPHA:206448
HP:0007305	CNS demyelination	29078	NDUFAF4	OMIM:618237
HP:0007305	CNS demyelination	3119	HLA-DQB1	OMIM:126200
HP:0007305	CNS demyelination	3123	HLA-DRB1	OMIM:126200
HP:0007305	CNS demyelination	79736	TEFM	OMIM:620451
HP:0007305	CNS demyelination	6311	ATXN2	ORPHA:98756
HP:0002198	Dilated fourth ventricle	10682	EBP	ORPHA:401973
HP:0002198	Dilated fourth ventricle	10682	EBP	OMIM:300960
HP:0002198	Dilated fourth ventricle	10682	EBP	OMIM:302960
HP:0002198	Dilated fourth ventricle	56896	DPYSL5	OMIM:619435
HP:0002198	Dilated fourth ventricle	56896	DPYSL5	ORPHA:7
HP:0002198	Dilated fourth ventricle	3265	HRAS	ORPHA:2612
HP:0002198	Dilated fourth ventricle	3845	KRAS	ORPHA:2612
HP:0002198	Dilated fourth ventricle	3845	KRAS	OMIM:609942
HP:0002198	Dilated fourth ventricle	4893	NRAS	ORPHA:2612
HP:0002198	Dilated fourth ventricle	4893	NRAS	OMIM:249400
HP:0002198	Dilated fourth ventricle	23556	PIGN	ORPHA:2059
HP:0002198	Dilated fourth ventricle	7355	SLC35A2	ORPHA:356961
HP:0002198	Dilated fourth ventricle	65062	TMEM237	OMIM:614424
HP:0002198	Dilated fourth ventricle	65062	TMEM237	ORPHA:564
HP:0002198	Dilated fourth ventricle	7545	ZIC1	OMIM:616602
HP:0002198	Dilated fourth ventricle	7545	ZIC1	OMIM:618736
HP:0002198	Dilated fourth ventricle	84942	WDR73	OMIM:251300
HP:0002198	Dilated fourth ventricle	2737	GLI3	ORPHA:36
HP:0002198	Dilated fourth ventricle	374654	KIF7	ORPHA:36
HP:0002198	Dilated fourth ventricle	79848	CSPP1	ORPHA:397715
HP:0002198	Dilated fourth ventricle	79848	CSPP1	ORPHA:564
HP:0002198	Dilated fourth ventricle	9786	KIAA0586	ORPHA:397715
HP:0002198	Dilated fourth ventricle	57465	TBC1D24	OMIM:220500
HP:0002198	Dilated fourth ventricle	57465	TBC1D24	ORPHA:79500
HP:0002198	Dilated fourth ventricle	55112	DYNC2I1	ORPHA:93271
HP:0002198	Dilated fourth ventricle	57560	IFT80	ORPHA:93271
HP:0002198	Dilated fourth ventricle	57539	WDR35	ORPHA:93271
HP:0002198	Dilated fourth ventricle	79659	DYNC2H1	ORPHA:93271
HP:0002198	Dilated fourth ventricle	89891	DYNC2I2	ORPHA:93271
HP:0002198	Dilated fourth ventricle	1436	CSF1R	OMIM:618476
HP:0002198	Dilated fourth ventricle	84162	BLTP1	OMIM:617822
HP:0002198	Dilated fourth ventricle	4081	MAB21L1	OMIM:618479
HP:0002198	Dilated fourth ventricle	4081	MAB21L1	ORPHA:495875
HP:0002198	Dilated fourth ventricle	51259	TMEM216	OMIM:603194
HP:0002198	Dilated fourth ventricle	51259	TMEM216	ORPHA:564
HP:0002198	Dilated fourth ventricle	55636	CHD7	ORPHA:138
HP:0002198	Dilated fourth ventricle	9723	SEMA3E	ORPHA:138
HP:0002198	Dilated fourth ventricle	2218	FKTN	OMIM:236670
HP:0002198	Dilated fourth ventricle	2218	FKTN	ORPHA:899
HP:0002198	Dilated fourth ventricle	9215	LARGE1	OMIM:236670
HP:0002198	Dilated fourth ventricle	9215	LARGE1	ORPHA:899
HP:0002198	Dilated fourth ventricle	9215	LARGE1	OMIM:613154
HP:0002198	Dilated fourth ventricle	84892	POMGNT2	ORPHA:899
HP:0002198	Dilated fourth ventricle	148789	B3GALNT2	ORPHA:899
HP:0002198	Dilated fourth ventricle	1282	COL4A1	ORPHA:899
HP:0002198	Dilated fourth ventricle	729920	CRPPA	ORPHA:899
HP:0002198	Dilated fourth ventricle	729920	CRPPA	OMIM:614643
HP:0002198	Dilated fourth ventricle	10329	RXYLT1	ORPHA:899
HP:0002198	Dilated fourth ventricle	1605	DAG1	ORPHA:899
HP:0002198	Dilated fourth ventricle	11041	B4GAT1	ORPHA:899
HP:0002198	Dilated fourth ventricle	11041	B4GAT1	OMIM:615287
HP:0002198	Dilated fourth ventricle	79068	FTO	OMIM:612938
HP:0002198	Dilated fourth ventricle	57492	ARID1B	OMIM:135900
HP:0002198	Dilated fourth ventricle	57492	ARID1B	ORPHA:1465
HP:0002198	Dilated fourth ventricle	3899	AFF3	OMIM:619297
HP:0002198	Dilated fourth ventricle	25885	POLR1A	OMIM:616462
HP:0002198	Dilated fourth ventricle	6597	SMARCA4	ORPHA:1465
HP:0002198	Dilated fourth ventricle	6597	SMARCA4	OMIM:614609
HP:0002198	Dilated fourth ventricle	6598	SMARCB1	ORPHA:1465
HP:0002198	Dilated fourth ventricle	6598	SMARCB1	OMIM:614608
HP:0002198	Dilated fourth ventricle	6659	SOX4	ORPHA:1465
HP:0002198	Dilated fourth ventricle	8289	ARID1A	ORPHA:1465
HP:0002198	Dilated fourth ventricle	8289	ARID1A	OMIM:614607
HP:0002198	Dilated fourth ventricle	5977	DPF2	ORPHA:1465
HP:0002198	Dilated fourth ventricle	6601	SMARCC2	ORPHA:1465
HP:0002198	Dilated fourth ventricle	6602	SMARCD1	ORPHA:1465
HP:0002198	Dilated fourth ventricle	196528	ARID2	ORPHA:1465
HP:0002198	Dilated fourth ventricle	6605	SMARCE1	ORPHA:1465
HP:0002198	Dilated fourth ventricle	6605	SMARCE1	OMIM:616938
HP:0002198	Dilated fourth ventricle	6664	SOX11	ORPHA:1465
HP:0002198	Dilated fourth ventricle	23545	ATP6V0A2	ORPHA:2834
HP:0002198	Dilated fourth ventricle	23545	ATP6V0A2	OMIM:219200
HP:0002198	Dilated fourth ventricle	23545	ATP6V0A2	ORPHA:357074
HP:0002198	Dilated fourth ventricle	1801	DPH1	OMIM:616901
HP:0002198	Dilated fourth ventricle	1801	DPH1	ORPHA:459061
HP:0002198	Dilated fourth ventricle	27315	PGAP2	OMIM:614207
HP:0002198	Dilated fourth ventricle	157570	ESCO2	ORPHA:2319
HP:0002198	Dilated fourth ventricle	5340	PLG	ORPHA:722
HP:0002198	Dilated fourth ventricle	5340	PLG	OMIM:217090
HP:0002198	Dilated fourth ventricle	1717	DHCR7	OMIM:270400
HP:0002198	Dilated fourth ventricle	84314	TMEM107	ORPHA:564
HP:0002198	Dilated fourth ventricle	26123	TCTN3	ORPHA:564
HP:0002198	Dilated fourth ventricle	79867	TCTN2	ORPHA:564
HP:0002198	Dilated fourth ventricle	79600	TCTN1	ORPHA:564
HP:0002198	Dilated fourth ventricle	57096	RPGRIP1	ORPHA:564
HP:0002198	Dilated fourth ventricle	80184	CEP290	ORPHA:564
HP:0002198	Dilated fourth ventricle	80184	CEP290	OMIM:611134
HP:0002198	Dilated fourth ventricle	57545	CC2D2A	ORPHA:564
HP:0002198	Dilated fourth ventricle	79583	TMEM231	ORPHA:564
HP:0002198	Dilated fourth ventricle	79770	TXNDC15	ORPHA:564
HP:0002198	Dilated fourth ventricle	27077	B9D1	ORPHA:564
HP:0002198	Dilated fourth ventricle	23322	RPGRIP1L	ORPHA:564
HP:0002198	Dilated fourth ventricle	27031	NPHP3	OMIM:267010
HP:0002198	Dilated fourth ventricle	27031	NPHP3	OMIM:208540
HP:0002198	Dilated fourth ventricle	27031	NPHP3	ORPHA:3032
HP:0002198	Dilated fourth ventricle	23258	DENND5A	OMIM:617281
HP:0002198	Dilated fourth ventricle	171023	ASXL1	ORPHA:97297
HP:0002198	Dilated fourth ventricle	171023	ASXL1	OMIM:605039
HP:0002198	Dilated fourth ventricle	9184	BUB3	ORPHA:1052
HP:0002198	Dilated fourth ventricle	699	BUB1	ORPHA:1052
HP:0002198	Dilated fourth ventricle	9702	CEP57	ORPHA:1052
HP:0002198	Dilated fourth ventricle	9319	TRIP13	ORPHA:1052
HP:0002198	Dilated fourth ventricle	701	BUB1B	ORPHA:1052
HP:0002198	Dilated fourth ventricle	701	BUB1B	OMIM:257300
HP:0002198	Dilated fourth ventricle	84342	COG8	OMIM:611182
HP:0002198	Dilated fourth ventricle	84188	FAR1	ORPHA:438178
HP:0002198	Dilated fourth ventricle	84188	FAR1	OMIM:616154
HP:0002198	Dilated fourth ventricle	2260	FGFR1	OMIM:613001
HP:0002198	Dilated fourth ventricle	124997	WDR81	OMIM:617967
HP:0002198	Dilated fourth ventricle	2683	B4GALT1	OMIM:607091
HP:0002198	Dilated fourth ventricle	2683	B4GALT1	ORPHA:79332
HP:0002198	Dilated fourth ventricle	26227	PHGDH	OMIM:256520
HP:0002198	Dilated fourth ventricle	10804	GJB6	ORPHA:477
HP:0002198	Dilated fourth ventricle	2706	GJB2	ORPHA:477
HP:0002198	Dilated fourth ventricle	55605	KIF21A	ORPHA:994
HP:0002198	Dilated fourth ventricle	4927	NUP88	ORPHA:994
HP:0002198	Dilated fourth ventricle	4654	MYOD1	ORPHA:994
HP:0002198	Dilated fourth ventricle	54551	MAGEL2	ORPHA:994
HP:0002198	Dilated fourth ventricle	4593	MUSK	ORPHA:994
HP:0002198	Dilated fourth ventricle	5913	RAPSN	ORPHA:994
HP:0002198	Dilated fourth ventricle	6572	SLC18A3	ORPHA:994
HP:0002198	Dilated fourth ventricle	285489	DOK7	ORPHA:994
HP:0002198	Dilated fourth ventricle	23126	POGZ	OMIM:616364
HP:0002198	Dilated fourth ventricle	7737	RNF113A	OMIM:300953
HP:0002198	Dilated fourth ventricle	56006	SMG9	OMIM:616920
HP:0002198	Dilated fourth ventricle	998	CDC42	ORPHA:487796
HP:0002198	Dilated fourth ventricle	51524	TMEM138	OMIM:614465
HP:0002198	Dilated fourth ventricle	11128	POLR3A	OMIM:264090
HP:0002198	Dilated fourth ventricle	4534	MTM1	OMIM:310400
HP:0002198	Dilated fourth ventricle	526	ATP6V1B2	ORPHA:79500
HP:0002198	Dilated fourth ventricle	54880	BCOR	OMIM:300166
HP:0002198	Dilated fourth ventricle	55640	FLVCR2	OMIM:225790
HP:0002198	Dilated fourth ventricle	28952	CCDC22	OMIM:300963
HP:0002198	Dilated fourth ventricle	28952	CCDC22	ORPHA:7
HP:0002198	Dilated fourth ventricle	1654	DDX3X	ORPHA:3338
HP:0002198	Dilated fourth ventricle	80210	ARMC9	OMIM:617622
HP:0002198	Dilated fourth ventricle	5500	PPP1CB	OMIM:617506
HP:0002198	Dilated fourth ventricle	54676	GTPBP2	OMIM:617988
HP:0002198	Dilated fourth ventricle	63895	PIEZO2	OMIM:248700
HP:0002198	Dilated fourth ventricle	9897	WASHC5	OMIM:220210
HP:0002198	Dilated fourth ventricle	9897	WASHC5	ORPHA:7
HP:0002198	Dilated fourth ventricle	2239	GPC4	ORPHA:373
HP:0002198	Dilated fourth ventricle	2719	GPC3	ORPHA:373
HP:0002198	Dilated fourth ventricle	23007	PLCH1	OMIM:619895
HP:0002198	Dilated fourth ventricle	132884	EVC2	OMIM:225500
HP:0002198	Dilated fourth ventricle	2121	EVC	OMIM:225500
HP:0002198	Dilated fourth ventricle	153241	CEP120	OMIM:616300
HP:0002198	Dilated fourth ventricle	523	ATP6V1A	ORPHA:357074
HP:0002198	Dilated fourth ventricle	529	ATP6V1E1	ORPHA:357074
HP:0002198	Dilated fourth ventricle	3798	KIF5A	OMIM:617235
HP:0002198	Dilated fourth ventricle	1028	CDKN1C	OMIM:130650
HP:0002198	Dilated fourth ventricle	3481	IGF2	OMIM:130650
HP:0002198	Dilated fourth ventricle	3784	KCNQ1	OMIM:130650
HP:0002198	Dilated fourth ventricle	10984	KCNQ1OT1	OMIM:130650
HP:0002198	Dilated fourth ventricle	738	VPS51	OMIM:618606
HP:0002198	Dilated fourth ventricle	1376	CPT2	ORPHA:228305
HP:0002198	Dilated fourth ventricle	10195	ALG3	ORPHA:79321
HP:0002198	Dilated fourth ventricle	8481	OFD1	ORPHA:2750
HP:0002198	Dilated fourth ventricle	219844	HYLS1	OMIM:236680
HP:0002198	Dilated fourth ventricle	57020	VPS35L	ORPHA:7
HP:0002198	Dilated fourth ventricle	4281	MID1	ORPHA:2745
HP:0002198	Dilated fourth ventricle	8905	AP1S2	OMIM:304340
HP:0002198	Dilated fourth ventricle	1802	DPH2	ORPHA:459061
HP:0002198	Dilated fourth ventricle	7846	TUBA1A	ORPHA:171680
HP:0002198	Dilated fourth ventricle	4287	ATXN3	OMIM:109150
HP:0002198	Dilated fourth ventricle	4287	ATXN3	ORPHA:276244
HP:0002198	Dilated fourth ventricle	4287	ATXN3	ORPHA:276241
HP:0002198	Dilated fourth ventricle	4287	ATXN3	ORPHA:276238
HP:0002198	Dilated fourth ventricle	203068	TUBB	OMIM:615771
HP:0002198	Dilated fourth ventricle	116228	COX20	OMIM:619054
HP:0002198	Dilated fourth ventricle	9698	PUM1	OMIM:620719
HP:0002198	Dilated fourth ventricle	5879	RAC1	OMIM:617751
HP:0002198	Dilated fourth ventricle	440	ASNS	OMIM:615574
HP:0002198	Dilated fourth ventricle	123606	NIPA1	ORPHA:261183
HP:0002198	Dilated fourth ventricle	7283	TUBG1	ORPHA:261183
HP:0002198	Dilated fourth ventricle	81614	NIPA2	ORPHA:261183
HP:0002198	Dilated fourth ventricle	26005	C2CD3	ORPHA:434179
HP:0002198	Dilated fourth ventricle	8573	CASK	OMIM:300749
HP:0002198	Dilated fourth ventricle	267010	RNU12	OMIM:620208
HP:0002198	Dilated fourth ventricle	54973	INTS11	OMIM:620428
HP:0002198	Dilated fourth ventricle	4361	MRE11	ORPHA:251347
HP:0002198	Dilated fourth ventricle	8239	USP9X	ORPHA:480880
HP:0002198	Dilated fourth ventricle	91147	TMEM67	OMIM:610688
HP:0002198	Dilated fourth ventricle	79645	CLXN	OMIM:620642
HP:0002198	Dilated fourth ventricle	23203	PMPCA	OMIM:213200
HP:0002198	Dilated fourth ventricle	23203	PMPCA	ORPHA:1170
HP:0002198	Dilated fourth ventricle	29925	GMPPB	ORPHA:370959
HP:0002198	Dilated fourth ventricle	79147	FKRP	ORPHA:370959
HP:0002198	Dilated fourth ventricle	29954	POMT2	ORPHA:370959
HP:0002198	Dilated fourth ventricle	84197	POMK	ORPHA:370959
HP:0002198	Dilated fourth ventricle	55624	POMGNT1	ORPHA:370959
HP:0002198	Dilated fourth ventricle	10585	POMT1	ORPHA:370959
HP:0002198	Dilated fourth ventricle	54903	MKS1	OMIM:249000
HP:0002198	Dilated fourth ventricle	6311	ATXN2	OMIM:183090
HP:0002198	Dilated fourth ventricle	80776	B9D2	OMIM:614175
HP:0002198	Dilated fourth ventricle	8550	MAPKAPK5	OMIM:619869
HP:0002198	Dilated fourth ventricle	284217	LAMA1	OMIM:615960
HP:0002198	Dilated fourth ventricle	284217	LAMA1	ORPHA:370022
HP:0002198	Dilated fourth ventricle	10352	WARS2	ORPHA:572798
HP:0002198	Dilated fourth ventricle	4208	MEF2C	OMIM:613443
HP:0002198	Dilated fourth ventricle	2911	GRM1	OMIM:614831
HP:0002198	Dilated fourth ventricle	55770	EXOC2	OMIM:619306
HP:0002198	Dilated fourth ventricle	79971	WLS	OMIM:619648
HP:0002198	Dilated fourth ventricle	6310	ATXN1	OMIM:164400
HP:0002198	Dilated fourth ventricle	5373	PMM2	OMIM:212065
HP:0012520	Dilation of Virchow-Robin spaces	55252	ASXL2	OMIM:617190
HP:0012520	Dilation of Virchow-Robin spaces	4953	ODC1	OMIM:619075
HP:0012520	Dilation of Virchow-Robin spaces	4953	ODC1	ORPHA:544488
HP:0012520	Dilation of Virchow-Robin spaces	6134	RPL10	OMIM:300998
HP:0012520	Dilation of Virchow-Robin spaces	55768	NGLY1	OMIM:615273
HP:0012520	Dilation of Virchow-Robin spaces	8294	H4C9	OMIM:619951
HP:0012520	Dilation of Virchow-Robin spaces	1182	CLCN3	OMIM:619512
HP:0012520	Dilation of Virchow-Robin spaces	1182	CLCN3	OMIM:619517
HP:0012520	Dilation of Virchow-Robin spaces	6477	SIAH1	OMIM:619314
HP:0012520	Dilation of Virchow-Robin spaces	54453	RIN2	OMIM:613075
HP:0012520	Dilation of Virchow-Robin spaces	5728	PTEN	OMIM:605309
HP:0012520	Dilation of Virchow-Robin spaces	85365	ALG2	OMIM:607906
HP:0012520	Dilation of Virchow-Robin spaces	5361	PLXNA1	OMIM:619955
HP:0012520	Dilation of Virchow-Robin spaces	1282	COL4A1	OMIM:175780
HP:0012520	Dilation of Virchow-Robin spaces	5048	PAFAH1B1	ORPHA:95232
HP:0012520	Dilation of Virchow-Robin spaces	5048	PAFAH1B1	OMIM:607432
HP:0012520	Dilation of Virchow-Robin spaces	3020	H3-3A	OMIM:619720
HP:0012520	Dilation of Virchow-Robin spaces	7543	ZFX	OMIM:301118
HP:0012520	Dilation of Virchow-Robin spaces	2752	GLUL	OMIM:620806
HP:0012520	Dilation of Virchow-Robin spaces	51111	KMT5B	OMIM:617788
HP:0012520	Dilation of Virchow-Robin spaces	1641	DCX	ORPHA:2148
HP:0012520	Dilation of Virchow-Robin spaces	5654	HTRA1	OMIM:616779
HP:0012520	Dilation of Virchow-Robin spaces	57688	ZSWIM6	OMIM:603671
HP:0012521	Optic nerve aplasia	5080	PAX6	OMIM:165550
HP:0012521	Optic nerve aplasia	5080	PAX6	OMIM:120200
HP:0012521	Optic nerve aplasia	4990	SIX6	OMIM:206900
HP:0012521	Optic nerve aplasia	6657	SOX2	OMIM:206900
HP:0012522	Spider hemangioma	2859	GPR35	ORPHA:171
HP:0012522	Spider hemangioma	10507	SEMA4D	ORPHA:171
HP:0012522	Spider hemangioma	4485	MST1	ORPHA:171
HP:0012522	Spider hemangioma	6925	TCF4	ORPHA:171
HP:0012522	Spider hemangioma	2542	SLC37A4	OMIM:232240
HP:0012523	Oral aversion	38	ACAT1	ORPHA:134
HP:0012523	Oral aversion	6597	SMARCA4	ORPHA:1465
HP:0012523	Oral aversion	6598	SMARCB1	ORPHA:1465
HP:0012523	Oral aversion	6659	SOX4	ORPHA:1465
HP:0012523	Oral aversion	8289	ARID1A	ORPHA:1465
HP:0012523	Oral aversion	5977	DPF2	ORPHA:1465
HP:0012523	Oral aversion	6601	SMARCC2	ORPHA:1465
HP:0012523	Oral aversion	6602	SMARCD1	ORPHA:1465
HP:0012523	Oral aversion	57492	ARID1B	ORPHA:1465
HP:0012523	Oral aversion	196528	ARID2	ORPHA:1465
HP:0012523	Oral aversion	6605	SMARCE1	ORPHA:1465
HP:0012523	Oral aversion	6664	SOX11	ORPHA:1465
HP:0012523	Oral aversion	2887	GRB10	ORPHA:96182
HP:0012523	Oral aversion	55690	PACS1	ORPHA:329224
HP:0012523	Oral aversion	9056	SLC7A7	ORPHA:470
HP:0012523	Oral aversion	78987	CRELD1	OMIM:620771
HP:0012523	Oral aversion	4212	MEIS2	OMIM:600987
HP:0012524	Abnormal platelet shape	861	RUNX1	OMIM:601399
HP:0012524	Abnormal platelet shape	22852	ANKRD26	OMIM:188000
HP:0012526	Absence of alpha granules	8328	GFI1B	OMIM:187900
HP:0012527	Abnormal alpha granule content	861	RUNX1	OMIM:601399
HP:0012528	Abnormal number of alpha granules	8328	GFI1B	OMIM:187900
HP:0012528	Abnormal number of alpha granules	23218	NBEAL2	OMIM:139090
HP:0012528	Abnormal number of alpha granules	64376	IKZF5	OMIM:619130
HP:0012528	Abnormal number of alpha granules	2623	GATA1	OMIM:314050
HP:0012529	Abnormal dense granule content	861	RUNX1	OMIM:601399
HP:0001302	Pachygyria	4750	NEK1	OMIM:263520
HP:0001302	Pachygyria	2879	GPX4	ORPHA:93317
HP:0001302	Pachygyria	26128	KIFBP	OMIM:609460
HP:0001302	Pachygyria	26128	KIFBP	ORPHA:66629
HP:0001302	Pachygyria	100151683	RNU4ATAC	OMIM:210710
HP:0001302	Pachygyria	2290	FOXG1	OMIM:613454
HP:0001302	Pachygyria	8573	CASK	OMIM:300749
HP:0001302	Pachygyria	8573	CASK	ORPHA:1934
HP:0001302	Pachygyria	23417	MLYCD	OMIM:248360
HP:0001302	Pachygyria	55624	POMGNT1	OMIM:253280
HP:0001302	Pachygyria	55624	POMGNT1	ORPHA:899
HP:0001302	Pachygyria	84942	WDR73	OMIM:251300
HP:0001302	Pachygyria	84942	WDR73	ORPHA:2065
HP:0001302	Pachygyria	8496	PPFIBP1	OMIM:620024
HP:0001302	Pachygyria	11267	SNF8	OMIM:620783
HP:0001302	Pachygyria	50814	NSDHL	ORPHA:251383
HP:0001302	Pachygyria	50814	NSDHL	OMIM:300831
HP:0001302	Pachygyria	80232	WDR26	ORPHA:513456
HP:0001302	Pachygyria	387119	CEP85L	OMIM:618873
HP:0001302	Pachygyria	387119	CEP85L	ORPHA:572013
HP:0001302	Pachygyria	10300	KATNB1	OMIM:616212
HP:0001302	Pachygyria	9342	SNAP29	ORPHA:66631
HP:0001302	Pachygyria	9342	SNAP29	OMIM:609528
HP:0001302	Pachygyria	8312	AXIN1	OMIM:620558
HP:0001302	Pachygyria	157922	CAMSAP1	OMIM:620316
HP:0001302	Pachygyria	5048	PAFAH1B1	OMIM:607432
HP:0001302	Pachygyria	5048	PAFAH1B1	ORPHA:95232
HP:0001302	Pachygyria	5290	PIK3CA	ORPHA:99802
HP:0001302	Pachygyria	2475	MTOR	ORPHA:99802
HP:0001302	Pachygyria	10000	AKT3	ORPHA:99802
HP:0001302	Pachygyria	54820	NDE1	OMIM:605013
HP:0001302	Pachygyria	7846	TUBA1A	OMIM:611603
HP:0001302	Pachygyria	7846	TUBA1A	ORPHA:467166
HP:0001302	Pachygyria	7846	TUBA1A	ORPHA:171680
HP:0001302	Pachygyria	3908	LAMA2	ORPHA:258
HP:0001302	Pachygyria	29954	POMT2	OMIM:236670
HP:0001302	Pachygyria	29954	POMT2	ORPHA:899
HP:0001302	Pachygyria	29954	POMT2	OMIM:613150
HP:0001302	Pachygyria	79147	FKRP	OMIM:236670
HP:0001302	Pachygyria	79147	FKRP	ORPHA:899
HP:0001302	Pachygyria	79147	FKRP	OMIM:606612
HP:0001302	Pachygyria	79147	FKRP	ORPHA:370980
HP:0001302	Pachygyria	79147	FKRP	OMIM:613153
HP:0001302	Pachygyria	2218	FKTN	OMIM:236670
HP:0001302	Pachygyria	2218	FKTN	ORPHA:899
HP:0001302	Pachygyria	2218	FKTN	ORPHA:370980
HP:0001302	Pachygyria	2218	FKTN	OMIM:253800
HP:0001302	Pachygyria	10585	POMT1	OMIM:236670
HP:0001302	Pachygyria	10585	POMT1	ORPHA:899
HP:0001302	Pachygyria	10585	POMT1	ORPHA:370980
HP:0001302	Pachygyria	9215	LARGE1	OMIM:236670
HP:0001302	Pachygyria	9215	LARGE1	ORPHA:899
HP:0001302	Pachygyria	9215	LARGE1	OMIM:608840
HP:0001302	Pachygyria	84892	POMGNT2	ORPHA:899
HP:0001302	Pachygyria	148789	B3GALNT2	ORPHA:899
HP:0001302	Pachygyria	1282	COL4A1	ORPHA:899
HP:0001302	Pachygyria	729920	CRPPA	ORPHA:899
HP:0001302	Pachygyria	729920	CRPPA	ORPHA:370980
HP:0001302	Pachygyria	729920	CRPPA	OMIM:614643
HP:0001302	Pachygyria	10329	RXYLT1	ORPHA:899
HP:0001302	Pachygyria	1605	DAG1	ORPHA:899
HP:0001302	Pachygyria	11041	B4GAT1	ORPHA:899
HP:0001302	Pachygyria	84197	POMK	ORPHA:899
HP:0001302	Pachygyria	23499	MACF1	ORPHA:572013
HP:0001302	Pachygyria	23499	MACF1	OMIM:618325
HP:0001302	Pachygyria	170302	ARX	ORPHA:452
HP:0001302	Pachygyria	170302	ARX	OMIM:300215
HP:0001302	Pachygyria	170302	ARX	ORPHA:1934
HP:0001302	Pachygyria	284403	WDR62	OMIM:604317
HP:0001302	Pachygyria	284403	WDR62	ORPHA:2512
HP:0001302	Pachygyria	4784	NFIX	OMIM:602535
HP:0001302	Pachygyria	347733	TUBB2B	ORPHA:467166
HP:0001302	Pachygyria	347733	TUBB2B	ORPHA:300573
HP:0001302	Pachygyria	347733	TUBB2B	OMIM:610031
HP:0001302	Pachygyria	10381	TUBB3	ORPHA:467166
HP:0001302	Pachygyria	4001	LMNB1	OMIM:619179
HP:0001302	Pachygyria	56915	EXOSC5	OMIM:619576
HP:0001302	Pachygyria	7283	TUBG1	OMIM:615412
HP:0001302	Pachygyria	23522	KAT6B	OMIM:606170
HP:0001302	Pachygyria	1778	DYNC1H1	OMIM:614563
HP:0001302	Pachygyria	3796	KIF2A	OMIM:615411
HP:0001302	Pachygyria	7436	VLDLR	OMIM:224050
HP:0001302	Pachygyria	10716	TBR1	OMIM:606053
HP:0001302	Pachygyria	5354	PLP1	ORPHA:280210
HP:0001302	Pachygyria	1641	DCX	OMIM:300067
HP:0001302	Pachygyria	1641	DCX	ORPHA:2148
HP:0001302	Pachygyria	9896	FIG4	ORPHA:3472
HP:0001302	Pachygyria	9896	FIG4	OMIM:216340
HP:0001302	Pachygyria	55697	VAC14	ORPHA:3472
HP:0001302	Pachygyria	79600	TCTN1	OMIM:614173
HP:0001302	Pachygyria	64121	RRAGC	OMIM:620609
HP:0001302	Pachygyria	545	ATR	OMIM:210600
HP:0001302	Pachygyria	8642	DCHS1	OMIM:601390
HP:0001302	Pachygyria	55644	OSGEP	OMIM:617729
HP:0001302	Pachygyria	55644	OSGEP	ORPHA:2065
HP:0001302	Pachygyria	2313	FLI1	ORPHA:2308
HP:0001302	Pachygyria	60	ACTB	OMIM:243310
HP:0001302	Pachygyria	60	ACTB	ORPHA:2995
HP:0001302	Pachygyria	71	ACTG1	OMIM:614583
HP:0001302	Pachygyria	71	ACTG1	ORPHA:2995
HP:0001302	Pachygyria	81689	ISCA1	OMIM:617613
HP:0001302	Pachygyria	9508	ADAMTS3	ORPHA:2136
HP:0001302	Pachygyria	147372	CCBE1	ORPHA:2136
HP:0001302	Pachygyria	147372	CCBE1	OMIM:235510
HP:0001302	Pachygyria	79633	FAT4	ORPHA:2136
HP:0001302	Pachygyria	51002	TPRKB	OMIM:617731
HP:0001302	Pachygyria	51002	TPRKB	ORPHA:2065
HP:0001302	Pachygyria	57514	ARHGAP31	OMIM:100300
HP:0001302	Pachygyria	5828	PEX2	OMIM:614866
HP:0001302	Pachygyria	25914	RTTN	ORPHA:468631
HP:0001302	Pachygyria	23545	ATP6V0A2	OMIM:219200
HP:0001302	Pachygyria	23545	ATP6V0A2	ORPHA:357074
HP:0001302	Pachygyria	1457	CSNK2A1	OMIM:617062
HP:0001302	Pachygyria	5162	PDHB	ORPHA:255138
HP:0001302	Pachygyria	1718	DHCR24	ORPHA:35107
HP:0001302	Pachygyria	9326	ZNHIT3	OMIM:260565
HP:0001302	Pachygyria	5192	PEX10	OMIM:614870
HP:0001302	Pachygyria	84340	GFM2	OMIM:618397
HP:0001302	Pachygyria	10319	LAMC3	OMIM:614115
HP:0001302	Pachygyria	79867	TCTN2	OMIM:616654
HP:0001302	Pachygyria	55704	CCDC88A	OMIM:617507
HP:0001302	Pachygyria	5591	PRKDC	OMIM:615966
HP:0001302	Pachygyria	100506658	OCLN	OMIM:251290
HP:0001302	Pachygyria	5296	PIK3R2	OMIM:603387
HP:0001302	Pachygyria	4677	NARS1	OMIM:619091
HP:0001302	Pachygyria	523	ATP6V1A	ORPHA:357074
HP:0001302	Pachygyria	529	ATP6V1E1	ORPHA:357074
HP:0001302	Pachygyria	10463	SLC30A9	OMIM:617595
HP:0001302	Pachygyria	23219	FBXO28	OMIM:619777
HP:0001302	Pachygyria	55005	RMND1	OMIM:614922
HP:0001302	Pachygyria	85459	CEP295	OMIM:620767
HP:0001302	Pachygyria	22930	RAB3GAP1	ORPHA:2510
HP:0001302	Pachygyria	25782	RAB3GAP2	ORPHA:2510
HP:0001302	Pachygyria	22931	RAB18	ORPHA:2510
HP:0001302	Pachygyria	128637	TBC1D20	ORPHA:2510
HP:0001302	Pachygyria	1376	CPT2	ORPHA:228308
HP:0001302	Pachygyria	79087	ALG12	ORPHA:79324
HP:0001302	Pachygyria	9276	COPB2	ORPHA:2512
HP:0001302	Pachygyria	11113	CIT	ORPHA:2512
HP:0001302	Pachygyria	9928	KIF14	ORPHA:2512
HP:0001302	Pachygyria	22995	CEP152	ORPHA:2512
HP:0001302	Pachygyria	55262	TRAPPC14	ORPHA:2512
HP:0001302	Pachygyria	163786	SASS6	ORPHA:2512
HP:0001302	Pachygyria	29920	PYCR2	ORPHA:2512
HP:0001302	Pachygyria	84879	MFSD2A	ORPHA:2512
HP:0001302	Pachygyria	4176	MCM7	ORPHA:2512
HP:0001302	Pachygyria	80254	CEP63	ORPHA:2512
HP:0001302	Pachygyria	29081	METTL5	ORPHA:2512
HP:0001302	Pachygyria	79023	NUP37	ORPHA:2512
HP:0001302	Pachygyria	23310	NCAPD3	ORPHA:2512
HP:0001302	Pachygyria	6301	SARS1	ORPHA:2512
HP:0001302	Pachygyria	55755	CDK5RAP2	ORPHA:2512
HP:0001302	Pachygyria	79648	MCPH1	ORPHA:2512
HP:0001302	Pachygyria	6491	STIL	ORPHA:2512
HP:0001302	Pachygyria	23141	ANKLE2	ORPHA:2512
HP:0001302	Pachygyria	259266	ASPM	ORPHA:2512
HP:0001302	Pachygyria	7109	TRAPPC10	ORPHA:2512
HP:0001302	Pachygyria	7453	WARS1	ORPHA:2512
HP:0001302	Pachygyria	1911	PHC1	ORPHA:2512
HP:0001302	Pachygyria	1062	CENPE	ORPHA:2512
HP:0001302	Pachygyria	6884	TAF13	ORPHA:2512
HP:0001302	Pachygyria	9662	CEP135	ORPHA:2512
HP:0001302	Pachygyria	57082	KNL1	ORPHA:2512
HP:0001302	Pachygyria	1021	CDK6	ORPHA:2512
HP:0001302	Pachygyria	84978	FRMD5	OMIM:620094
HP:0001302	Pachygyria	51075	TMX2	OMIM:618730
HP:0001302	Pachygyria	1496	CTNNA2	OMIM:618174
HP:0001302	Pachygyria	8738	CRADD	OMIM:614499
HP:0001302	Pachygyria	85378	TUBGCP6	OMIM:251270
HP:0001302	Pachygyria	10844	TUBGCP2	OMIM:618737
HP:0001302	Pachygyria	55367	PIDD1	OMIM:619827
HP:0001302	Pachygyria	79693	YRDC	ORPHA:2065
HP:0001302	Pachygyria	57122	NUP107	ORPHA:2065
HP:0001302	Pachygyria	10785	WDR4	ORPHA:2065
HP:0001302	Pachygyria	55746	NUP133	ORPHA:2065
HP:0001302	Pachygyria	84520	GON7	ORPHA:2065
HP:0001302	Pachygyria	112858	TP53RK	ORPHA:2065
HP:0001302	Pachygyria	8270	LAGE3	ORPHA:2065
HP:0001302	Pachygyria	835	CASP2	OMIM:620653
HP:0001302	Pachygyria	6792	CDKL5	ORPHA:1934
HP:0001302	Pachygyria	3736	KCNA1	ORPHA:1934
HP:0001302	Pachygyria	9091	PIGQ	ORPHA:1934
HP:0001302	Pachygyria	140679	SLC32A1	ORPHA:1934
HP:0001302	Pachygyria	2775	GNAO1	ORPHA:1934
HP:0001302	Pachygyria	81603	TRIM8	ORPHA:1934
HP:0001302	Pachygyria	2902	GRIN1	ORPHA:1934
HP:0001302	Pachygyria	79751	SLC25A22	ORPHA:1934
HP:0001302	Pachygyria	150094	SIK1	ORPHA:1934
HP:0001302	Pachygyria	23312	DMXL2	ORPHA:1934
HP:0001302	Pachygyria	2917	GRM7	ORPHA:1934
HP:0001302	Pachygyria	11284	PNKP	ORPHA:1934
HP:0001302	Pachygyria	6326	SCN2A	ORPHA:1934
HP:0001302	Pachygyria	51227	PIGP	ORPHA:1934
HP:0001302	Pachygyria	6324	SCN1B	ORPHA:1934
HP:0001302	Pachygyria	4761	NEUROD2	ORPHA:1934
HP:0001302	Pachygyria	2110	ETFDH	OMIM:231680
HP:0001302	Pachygyria	2108	ETFA	OMIM:231680
HP:0001302	Pachygyria	2109	ETFB	OMIM:231680
HP:0001302	Pachygyria	9289	ADGRG1	ORPHA:98889
HP:0001302	Pachygyria	5297	PI4KA	ORPHA:98889
HP:0001302	Pachygyria	27286	SRPX2	ORPHA:98889
HP:0007229	Intracerebral periventricular calcifications	727676	SNORD118	ORPHA:542310
HP:0007229	Intracerebral periventricular calcifications	1376	CPT2	OMIM:608836
HP:0007229	Intracerebral periventricular calcifications	1376	CPT2	ORPHA:228308
HP:0007229	Intracerebral periventricular calcifications	64135	IFIH1	OMIM:615846
HP:0007229	Intracerebral periventricular calcifications	129607	CMPK2	OMIM:621018
HP:0007229	Intracerebral periventricular calcifications	79903	NAA60	OMIM:620786
HP:0007229	Intracerebral periventricular calcifications	25939	SAMHD1	OMIM:612952
HP:0007229	Intracerebral periventricular calcifications	6513	SLC2A1	OMIM:608885
HP:0007229	Intracerebral periventricular calcifications	6513	SLC2A1	ORPHA:168577
HP:0007229	Intracerebral periventricular calcifications	11277	TREX1	OMIM:225750
HP:0007229	Intracerebral periventricular calcifications	90952	ESAM	OMIM:620371
HP:0033354	Abnormal urine metabolite level	1497	CTNS	OMIM:219800
HP:0033354	Abnormal urine metabolite level	1497	CTNS	OMIM:219900
HP:0033354	Abnormal urine metabolite level	1497	CTNS	ORPHA:411634
HP:0033354	Abnormal urine metabolite level	25970	SH2B1	ORPHA:261222
HP:0033354	Abnormal urine metabolite level	4574	MT-TS1	OMIM:220110
HP:0033354	Abnormal urine metabolite level	4574	MT-TS1	ORPHA:550
HP:0033354	Abnormal urine metabolite level	4570	MT-TN	OMIM:220110
HP:0033354	Abnormal urine metabolite level	6834	SURF1	OMIM:220110
HP:0033354	Abnormal urine metabolite level	2132	EXT2	OMIM:616682
HP:0033354	Abnormal urine metabolite level	8029	CUBN	OMIM:261100
HP:0033354	Abnormal urine metabolite level	8029	CUBN	ORPHA:35858
HP:0033354	Abnormal urine metabolite level	8029	CUBN	OMIM:618884
HP:0033354	Abnormal urine metabolite level	4010	LMX1B	ORPHA:2613
HP:0033354	Abnormal urine metabolite level	4010	LMX1B	ORPHA:2614
HP:0033354	Abnormal urine metabolite level	4010	LMX1B	OMIM:161200
HP:0033354	Abnormal urine metabolite level	4010	LMX1B	OMIM:256020
HP:0033354	Abnormal urine metabolite level	55654	TMEM127	OMIM:171300
HP:0033354	Abnormal urine metabolite level	55654	TMEM127	ORPHA:29072
HP:0033354	Abnormal urine metabolite level	4149	MAX	OMIM:171300
HP:0033354	Abnormal urine metabolite level	4149	MAX	ORPHA:29072
HP:0033354	Abnormal urine metabolite level	5979	RET	OMIM:171300
HP:0033354	Abnormal urine metabolite level	5979	RET	ORPHA:276621
HP:0033354	Abnormal urine metabolite level	5979	RET	ORPHA:29072
HP:0033354	Abnormal urine metabolite level	84334	COA8	ORPHA:436271
HP:0033354	Abnormal urine metabolite level	84942	WDR73	OMIM:251300
HP:0033354	Abnormal urine metabolite level	84942	WDR73	ORPHA:2065
HP:0033354	Abnormal urine metabolite level	51816	ADA2	ORPHA:820
HP:0033354	Abnormal urine metabolite level	2542	SLC37A4	OMIM:232220
HP:0033354	Abnormal urine metabolite level	2542	SLC37A4	OMIM:232240
HP:0033354	Abnormal urine metabolite level	2542	SLC37A4	ORPHA:79259
HP:0033354	Abnormal urine metabolite level	1161	ERCC8	ORPHA:90321
HP:0033354	Abnormal urine metabolite level	1161	ERCC8	OMIM:216400
HP:0033354	Abnormal urine metabolite level	2072	ERCC4	ORPHA:90321
HP:0033354	Abnormal urine metabolite level	2072	ERCC4	OMIM:610965
HP:0033354	Abnormal urine metabolite level	2074	ERCC6	ORPHA:90321
HP:0033354	Abnormal urine metabolite level	2074	ERCC6	OMIM:133540
HP:0033354	Abnormal urine metabolite level	23607	CD2AP	OMIM:607832
HP:0033354	Abnormal urine metabolite level	23607	CD2AP	ORPHA:656
HP:0033354	Abnormal urine metabolite level	396	ARHGDIA	OMIM:615244
HP:0033354	Abnormal urine metabolite level	396	ARHGDIA	ORPHA:656
HP:0033354	Abnormal urine metabolite level	3162	HMOX1	OMIM:614034
HP:0033354	Abnormal urine metabolite level	25959	KANK2	OMIM:617783
HP:0033354	Abnormal urine metabolite level	9968	MED12	ORPHA:2728
HP:0033354	Abnormal urine metabolite level	8526	DGKE	OMIM:615008
HP:0033354	Abnormal urine metabolite level	79693	YRDC	OMIM:619609
HP:0033354	Abnormal urine metabolite level	79693	YRDC	ORPHA:2065
HP:0033354	Abnormal urine metabolite level	4868	NPHS1	OMIM:256300
HP:0033354	Abnormal urine metabolite level	4868	NPHS1	ORPHA:839
HP:0033354	Abnormal urine metabolite level	4868	NPHS1	ORPHA:656
HP:0033354	Abnormal urine metabolite level	81693	AMN	ORPHA:35858
HP:0033354	Abnormal urine metabolite level	81693	AMN	OMIM:618882
HP:0033354	Abnormal urine metabolite level	10559	SLC35A1	OMIM:603585
HP:0033354	Abnormal urine metabolite level	7827	NPHS2	OMIM:600995
HP:0033354	Abnormal urine metabolite level	7827	NPHS2	ORPHA:656
HP:0033354	Abnormal urine metabolite level	1777	DNASE2	OMIM:619858
HP:0033354	Abnormal urine metabolite level	2538	G6PC1	OMIM:232200
HP:0033354	Abnormal urine metabolite level	6773	STAT2	OMIM:618886
HP:0033354	Abnormal urine metabolite level	1801	DPH1	OMIM:616901
HP:0033354	Abnormal urine metabolite level	84823	LMNB2	ORPHA:79087
HP:0033354	Abnormal urine metabolite level	84823	LMNB2	OMIM:608709
HP:0033354	Abnormal urine metabolite level	1788	DNMT3A	ORPHA:276621
HP:0033354	Abnormal urine metabolite level	2034	EPAS1	ORPHA:276621
HP:0033354	Abnormal urine metabolite level	83480	PUS3	ORPHA:488627
HP:0033354	Abnormal urine metabolite level	7490	WT1	OMIM:136680
HP:0033354	Abnormal urine metabolite level	7490	WT1	ORPHA:347
HP:0033354	Abnormal urine metabolite level	7490	WT1	ORPHA:220
HP:0033354	Abnormal urine metabolite level	7490	WT1	ORPHA:656
HP:0033354	Abnormal urine metabolite level	63894	VIPAS39	OMIM:613404
HP:0033354	Abnormal urine metabolite level	4036	LRP2	ORPHA:2143
HP:0033354	Abnormal urine metabolite level	4036	LRP2	OMIM:222448
HP:0033354	Abnormal urine metabolite level	950	SCARB2	OMIM:254900
HP:0033354	Abnormal urine metabolite level	54	ACP5	ORPHA:1855
HP:0033354	Abnormal urine metabolite level	5373	PMM2	OMIM:212065
HP:0033354	Abnormal urine metabolite level	5373	PMM2	ORPHA:79318
HP:0033354	Abnormal urine metabolite level	2243	FGA	OMIM:105200
HP:0033354	Abnormal urine metabolite level	9056	SLC7A7	ORPHA:470
HP:0033354	Abnormal urine metabolite level	116085	SLC22A12	OMIM:220150
HP:0033354	Abnormal urine metabolite level	5972	REN	OMIM:613092
HP:0033354	Abnormal urine metabolite level	8879	SGPL1	OMIM:617575
HP:0033354	Abnormal urine metabolite level	11277	TREX1	OMIM:192315
HP:0033354	Abnormal urine metabolite level	11277	TREX1	ORPHA:247691
HP:0033354	Abnormal urine metabolite level	11277	TREX1	ORPHA:536
HP:0033354	Abnormal urine metabolite level	5076	PAX2	OMIM:616002
HP:0033354	Abnormal urine metabolite level	5076	PAX2	ORPHA:97362
HP:0033354	Abnormal urine metabolite level	5076	PAX2	ORPHA:656
HP:0033354	Abnormal urine metabolite level	5076	PAX2	OMIM:120330
HP:0033354	Abnormal urine metabolite level	1743	DLST	ORPHA:29072
HP:0033354	Abnormal urine metabolite level	4191	MDH2	ORPHA:29072
HP:0033354	Abnormal urine metabolite level	6389	SDHA	ORPHA:29072
HP:0033354	Abnormal urine metabolite level	2271	FH	ORPHA:29072
HP:0033354	Abnormal urine metabolite level	8402	SLC25A11	ORPHA:29072
HP:0033354	Abnormal urine metabolite level	54949	SDHAF2	ORPHA:29072
HP:0033354	Abnormal urine metabolite level	4763	NF1	ORPHA:29072
HP:0033354	Abnormal urine metabolite level	6391	SDHC	ORPHA:29072
HP:0033354	Abnormal urine metabolite level	2321	FLT1	ORPHA:275555
HP:0033354	Abnormal urine metabolite level	219736	STOX1	ORPHA:275555
HP:0033354	Abnormal urine metabolite level	10699	CORIN	ORPHA:275555
HP:0033354	Abnormal urine metabolite level	6804	STX1A	ORPHA:904
HP:0033354	Abnormal urine metabolite level	7461	CLIP2	ORPHA:904
HP:0033354	Abnormal urine metabolite level	84277	DNAJC30	ORPHA:904
HP:0033354	Abnormal urine metabolite level	8468	FKBP6	ORPHA:904
HP:0033354	Abnormal urine metabolite level	5982	RFC2	ORPHA:904
HP:0033354	Abnormal urine metabolite level	2969	GTF2I	ORPHA:904
HP:0033354	Abnormal urine metabolite level	3984	LIMK1	ORPHA:904
HP:0033354	Abnormal urine metabolite level	9569	GTF2IRD1	ORPHA:904
HP:0033354	Abnormal urine metabolite level	155382	VPS37D	ORPHA:904
HP:0033354	Abnormal urine metabolite level	155368	METTL27	ORPHA:904
HP:0033354	Abnormal urine metabolite level	114049	BUD23	ORPHA:904
HP:0033354	Abnormal urine metabolite level	7458	EIF4H	ORPHA:904
HP:0033354	Abnormal urine metabolite level	84163	GTF2IRD2	ORPHA:904
HP:0033354	Abnormal urine metabolite level	26608	TBL2	ORPHA:904
HP:0033354	Abnormal urine metabolite level	653361	NCF1	ORPHA:904
HP:0033354	Abnormal urine metabolite level	135886	TMEM270	ORPHA:904
HP:0033354	Abnormal urine metabolite level	9031	BAZ1B	ORPHA:904
HP:0033354	Abnormal urine metabolite level	2006	ELN	ORPHA:904
HP:0033354	Abnormal urine metabolite level	1493	CTLA4	ORPHA:900
HP:0033354	Abnormal urine metabolite level	1493	CTLA4	ORPHA:536
HP:0033354	Abnormal urine metabolite level	26191	PTPN22	ORPHA:900
HP:0033354	Abnormal urine metabolite level	26191	PTPN22	ORPHA:536
HP:0033354	Abnormal urine metabolite level	3115	HLA-DPB1	ORPHA:900
HP:0033354	Abnormal urine metabolite level	5657	PRTN3	ORPHA:900
HP:0033354	Abnormal urine metabolite level	3113	HLA-DPA1	ORPHA:900
HP:0033354	Abnormal urine metabolite level	3675	ITGA3	OMIM:614748
HP:0033354	Abnormal urine metabolite level	4210	MEFV	ORPHA:342
HP:0033354	Abnormal urine metabolite level	4210	MEFV	OMIM:134610
HP:0033354	Abnormal urine metabolite level	3931	LCAT	OMIM:245900
HP:0033354	Abnormal urine metabolite level	4094	MAF	ORPHA:1272
HP:0033354	Abnormal urine metabolite level	2934	GSN	ORPHA:85448
HP:0033354	Abnormal urine metabolite level	3913	LAMB2	OMIM:614199
HP:0033354	Abnormal urine metabolite level	3913	LAMB2	OMIM:609049
HP:0033354	Abnormal urine metabolite level	5800	PTPRO	OMIM:614196
HP:0033354	Abnormal urine metabolite level	5800	PTPRO	ORPHA:656
HP:0033354	Abnormal urine metabolite level	6288	SAA1	ORPHA:85445
HP:0033354	Abnormal urine metabolite level	50485	SMARCAL1	ORPHA:1830
HP:0033354	Abnormal urine metabolite level	50485	SMARCAL1	OMIM:242900
HP:0033354	Abnormal urine metabolite level	8481	OFD1	OMIM:311200
HP:0033354	Abnormal urine metabolite level	8481	OFD1	ORPHA:2750
HP:0033354	Abnormal urine metabolite level	10253	SPRY2	OMIM:616818
HP:0033354	Abnormal urine metabolite level	540	ATP7B	OMIM:277900
HP:0033354	Abnormal urine metabolite level	4846	NOS3	OMIM:189800
HP:0033354	Abnormal urine metabolite level	7369	UMOD	OMIM:162000
HP:0033354	Abnormal urine metabolite level	3172	HNF4A	OMIM:616026
HP:0033354	Abnormal urine metabolite level	3172	HNF4A	ORPHA:263455
HP:0033354	Abnormal urine metabolite level	25836	NIPBL	OMIM:122470
HP:0033354	Abnormal urine metabolite level	2303	FOXC2	ORPHA:33001
HP:0033354	Abnormal urine metabolite level	5836	PYGL	ORPHA:369
HP:0033354	Abnormal urine metabolite level	51196	PLCE1	OMIM:610725
HP:0033354	Abnormal urine metabolite level	51196	PLCE1	ORPHA:656
HP:0033354	Abnormal urine metabolite level	2629	GBA1	ORPHA:77261
HP:0033354	Abnormal urine metabolite level	54443	ANLN	OMIM:616032
HP:0033354	Abnormal urine metabolite level	54443	ANLN	ORPHA:656
HP:0033354	Abnormal urine metabolite level	51004	COQ6	OMIM:614650
HP:0033354	Abnormal urine metabolite level	7535	ZAP70	OMIM:617006
HP:0033354	Abnormal urine metabolite level	4069	LYZ	OMIM:620658
HP:0033354	Abnormal urine metabolite level	57107	PDSS2	OMIM:614652
HP:0033354	Abnormal urine metabolite level	335	APOA1	OMIM:620657
HP:0033354	Abnormal urine metabolite level	1285	COL4A3	OMIM:620536
HP:0033354	Abnormal urine metabolite level	1285	COL4A3	ORPHA:656
HP:0033354	Abnormal urine metabolite level	1285	COL4A3	OMIM:620320
HP:0033354	Abnormal urine metabolite level	1285	COL4A3	OMIM:104200
HP:0033354	Abnormal urine metabolite level	81603	TRIM8	OMIM:619428
HP:0033354	Abnormal urine metabolite level	1188	CLCNKB	ORPHA:358
HP:0033354	Abnormal urine metabolite level	6559	SLC12A3	ORPHA:358
HP:0033354	Abnormal urine metabolite level	1288	COL4A6	ORPHA:1018
HP:0033354	Abnormal urine metabolite level	1287	COL4A5	ORPHA:1018
HP:0033354	Abnormal urine metabolite level	1287	COL4A5	OMIM:301050
HP:0033354	Abnormal urine metabolite level	4558	MT-TF	ORPHA:550
HP:0033354	Abnormal urine metabolite level	4572	MT-TQ	ORPHA:550
HP:0033354	Abnormal urine metabolite level	4513	MT-CO2	ORPHA:550
HP:0033354	Abnormal urine metabolite level	4578	MT-TW	ORPHA:550
HP:0033354	Abnormal urine metabolite level	4540	MT-ND5	ORPHA:550
HP:0033354	Abnormal urine metabolite level	4541	MT-ND6	ORPHA:550
HP:0033354	Abnormal urine metabolite level	4535	MT-ND1	ORPHA:550
HP:0033354	Abnormal urine metabolite level	4538	MT-ND4	ORPHA:550
HP:0033354	Abnormal urine metabolite level	4567	MT-TL1	ORPHA:550
HP:0033354	Abnormal urine metabolite level	4575	MT-TS2	ORPHA:550
HP:0033354	Abnormal urine metabolite level	4564	MT-TH	ORPHA:550
HP:0033354	Abnormal urine metabolite level	5087	PBX1	ORPHA:97362
HP:0033354	Abnormal urine metabolite level	10785	WDR4	OMIM:618347
HP:0033354	Abnormal urine metabolite level	10785	WDR4	ORPHA:2065
HP:0033354	Abnormal urine metabolite level	57122	NUP107	OMIM:618348
HP:0033354	Abnormal urine metabolite level	57122	NUP107	OMIM:616730
HP:0033354	Abnormal urine metabolite level	57122	NUP107	ORPHA:656
HP:0033354	Abnormal urine metabolite level	57122	NUP107	ORPHA:2065
HP:0033354	Abnormal urine metabolite level	55746	NUP133	OMIM:618349
HP:0033354	Abnormal urine metabolite level	55746	NUP133	ORPHA:656
HP:0033354	Abnormal urine metabolite level	55746	NUP133	OMIM:618177
HP:0033354	Abnormal urine metabolite level	55746	NUP133	ORPHA:2065
HP:0033354	Abnormal urine metabolite level	6775	STAT4	ORPHA:93552
HP:0033354	Abnormal urine metabolite level	6775	STAT4	ORPHA:536
HP:0033354	Abnormal urine metabolite level	6696	SPP1	ORPHA:93552
HP:0033354	Abnormal urine metabolite level	6696	SPP1	ORPHA:536
HP:0033354	Abnormal urine metabolite level	6303	SAT1	ORPHA:93552
HP:0033354	Abnormal urine metabolite level	3654	IRAK1	ORPHA:93552
HP:0033354	Abnormal urine metabolite level	3654	IRAK1	ORPHA:536
HP:0033354	Abnormal urine metabolite level	629	CFB	OMIM:612924
HP:0033354	Abnormal urine metabolite level	1776	DNASE1L3	ORPHA:36412
HP:0033354	Abnormal urine metabolite level	7056	THBD	OMIM:612926
HP:0033354	Abnormal urine metabolite level	718	C3	OMIM:612925
HP:0033354	Abnormal urine metabolite level	55243	KIRREL1	OMIM:619201
HP:0033354	Abnormal urine metabolite level	9342	SNAP29	ORPHA:66631
HP:0033354	Abnormal urine metabolite level	137682	NDUFAF6	OMIM:618913
HP:0033354	Abnormal urine metabolite level	11093	ADAMTS13	OMIM:274150
HP:0033354	Abnormal urine metabolite level	5625	PRODH	ORPHA:419
HP:0033354	Abnormal urine metabolite level	4952	OCRL	ORPHA:534
HP:0033354	Abnormal urine metabolite level	2215	FCGR3B	ORPHA:536
HP:0033354	Abnormal urine metabolite level	3684	ITGAM	ORPHA:536
HP:0033354	Abnormal urine metabolite level	3586	IL10	ORPHA:536
HP:0033354	Abnormal urine metabolite level	221895	JAZF1	ORPHA:536
HP:0033354	Abnormal urine metabolite level	7292	TNFSF4	ORPHA:536
HP:0033354	Abnormal urine metabolite level	640	BLK	ORPHA:536
HP:0033354	Abnormal urine metabolite level	720	C4A	ORPHA:536
HP:0033354	Abnormal urine metabolite level	55024	BANK1	ORPHA:536
HP:0033354	Abnormal urine metabolite level	3500	IGHG1	ORPHA:536
HP:0033354	Abnormal urine metabolite level	1380	CR2	ORPHA:536
HP:0033354	Abnormal urine metabolite level	5133	PDCD1	ORPHA:536
HP:0033354	Abnormal urine metabolite level	2113	ETS1	ORPHA:536
HP:0033354	Abnormal urine metabolite level	2213	FCGR2B	ORPHA:536
HP:0033354	Abnormal urine metabolite level	10318	TNIP1	ORPHA:536
HP:0033354	Abnormal urine metabolite level	7332	UBE2L3	ORPHA:536
HP:0033354	Abnormal urine metabolite level	79932	KIAA0319L	ORPHA:536
HP:0033354	Abnormal urine metabolite level	4204	MECP2	ORPHA:536
HP:0033354	Abnormal urine metabolite level	3663	IRF5	ORPHA:536
HP:0033354	Abnormal urine metabolite level	3123	HLA-DRB1	ORPHA:536
HP:0033354	Abnormal urine metabolite level	721	C4B	ORPHA:536
HP:0033354	Abnormal urine metabolite level	1773	DNASE1	ORPHA:536
HP:0033354	Abnormal urine metabolite level	51284	TLR7	ORPHA:536
HP:0033354	Abnormal urine metabolite level	54899	PXK	ORPHA:536
HP:0033354	Abnormal urine metabolite level	7128	TNFAIP3	ORPHA:536
HP:0033354	Abnormal urine metabolite level	9688	NUP93	ORPHA:656
HP:0033354	Abnormal urine metabolite level	4643	MYO1E	ORPHA:656
HP:0033354	Abnormal urine metabolite level	4643	MYO1E	OMIM:614131
HP:0033354	Abnormal urine metabolite level	64423	INF2	ORPHA:656
HP:0033354	Abnormal urine metabolite level	64423	INF2	OMIM:613237
HP:0033354	Abnormal urine metabolite level	64423	INF2	OMIM:614455
HP:0033354	Abnormal urine metabolite level	26130	GAPVD1	ORPHA:656
HP:0033354	Abnormal urine metabolite level	51479	ANKFY1	ORPHA:656
HP:0033354	Abnormal urine metabolite level	286204	CRB2	ORPHA:656
HP:0033354	Abnormal urine metabolite level	23165	NUP205	ORPHA:656
HP:0033354	Abnormal urine metabolite level	2013	EMP2	ORPHA:656
HP:0033354	Abnormal urine metabolite level	79023	NUP37	ORPHA:656
HP:0033354	Abnormal urine metabolite level	79902	NUP85	ORPHA:656
HP:0033354	Abnormal urine metabolite level	79902	NUP85	OMIM:618176
HP:0033354	Abnormal urine metabolite level	79934	COQ8B	ORPHA:656
HP:0033354	Abnormal urine metabolite level	79934	COQ8B	OMIM:615573
HP:0033354	Abnormal urine metabolite level	23279	NUP160	ORPHA:656
HP:0033354	Abnormal urine metabolite level	23279	NUP160	OMIM:618178
HP:0033354	Abnormal urine metabolite level	9863	MAGI2	ORPHA:656
HP:0033354	Abnormal urine metabolite level	9863	MAGI2	OMIM:617609
HP:0033354	Abnormal urine metabolite level	81	ACTN4	ORPHA:656
HP:0033354	Abnormal urine metabolite level	81	ACTN4	OMIM:603278
HP:0033354	Abnormal urine metabolite level	7225	TRPC6	ORPHA:656
HP:0033354	Abnormal urine metabolite level	7225	TRPC6	OMIM:603965
HP:0033354	Abnormal urine metabolite level	8542	APOL1	ORPHA:656
HP:0033354	Abnormal urine metabolite level	54885	TBC1D8B	ORPHA:656
HP:0033354	Abnormal urine metabolite level	54885	TBC1D8B	OMIM:301028
HP:0033354	Abnormal urine metabolite level	83478	ARHGAP24	ORPHA:656
HP:0033354	Abnormal urine metabolite level	23500	DAAM2	ORPHA:656
HP:0033354	Abnormal urine metabolite level	9663	LPIN2	ORPHA:77297
HP:0033354	Abnormal urine metabolite level	6928	HNF1B	OMIM:137920
HP:0033354	Abnormal urine metabolite level	55644	OSGEP	OMIM:617729
HP:0033354	Abnormal urine metabolite level	55644	OSGEP	ORPHA:2065
HP:0033354	Abnormal urine metabolite level	27031	NPHP3	OMIM:604387
HP:0033354	Abnormal urine metabolite level	26160	IFT172	OMIM:619471
HP:0033354	Abnormal urine metabolite level	112858	TP53RK	OMIM:617730
HP:0033354	Abnormal urine metabolite level	112858	TP53RK	ORPHA:2065
HP:0033354	Abnormal urine metabolite level	8270	LAGE3	OMIM:301006
HP:0033354	Abnormal urine metabolite level	8270	LAGE3	ORPHA:2065
HP:0033354	Abnormal urine metabolite level	29927	SEC61A1	OMIM:617056
HP:0033354	Abnormal urine metabolite level	1286	COL4A4	OMIM:203780
HP:0033354	Abnormal urine metabolite level	51002	TPRKB	OMIM:617731
HP:0033354	Abnormal urine metabolite level	51002	TPRKB	ORPHA:2065
HP:0033354	Abnormal urine metabolite level	2335	FN1	ORPHA:84090
HP:0033354	Abnormal urine metabolite level	2335	FN1	OMIM:601894
HP:0033354	Abnormal urine metabolite level	9935	MAFB	ORPHA:2774
HP:0033354	Abnormal urine metabolite level	9935	MAFB	OMIM:166300
HP:0033354	Abnormal urine metabolite level	23630	KCNE5	ORPHA:86818
HP:0033354	Abnormal urine metabolite level	2182	ACSL4	ORPHA:86818
HP:0033354	Abnormal urine metabolite level	9949	AMMECR1	ORPHA:86818
HP:0033354	Abnormal urine metabolite level	100147744	RNU7-1	OMIM:619487
HP:0033354	Abnormal urine metabolite level	10651	MTX2	OMIM:619127
HP:0033354	Abnormal urine metabolite level	2625	GATA3	OMIM:146255
HP:0033354	Abnormal urine metabolite level	6569	SLC34A1	OMIM:613388
HP:0033354	Abnormal urine metabolite level	353	APRT	ORPHA:976
HP:0033354	Abnormal urine metabolite level	55898	UNC45A	OMIM:619377
HP:0033354	Abnormal urine metabolite level	348	APOE	OMIM:611771
HP:0033354	Abnormal urine metabolite level	4853	NOTCH2	OMIM:610205
HP:0033354	Abnormal urine metabolite level	29071	C1GALT1C1	OMIM:301110
HP:0033354	Abnormal urine metabolite level	8516	ITGA8	OMIM:191830
HP:0033354	Abnormal urine metabolite level	1291	COL6A1	OMIM:158810
HP:0033354	Abnormal urine metabolite level	9051	PSTPIP1	ORPHA:69126
HP:0033354	Abnormal urine metabolite level	57728	WDR19	OMIM:614376
HP:0033354	Abnormal urine metabolite level	57728	WDR19	OMIM:614377
HP:0033354	Abnormal urine metabolite level	4627	MYH9	ORPHA:182050
HP:0033354	Abnormal urine metabolite level	84520	GON7	ORPHA:2065
HP:0033354	Abnormal urine metabolite level	54938	SARS2	OMIM:613845
HP:0033354	Abnormal urine metabolite level	26276	VPS33B	OMIM:620010
HP:0033354	Abnormal urine metabolite level	5052	PRDX1	OMIM:277400
HP:0033354	Abnormal urine metabolite level	22909	FAN1	OMIM:614817
HP:0033354	Abnormal urine metabolite level	444	ASPH	OMIM:601552
HP:0033354	Abnormal urine metabolite level	4524	MTHFR	OMIM:236250
HP:0033354	Abnormal urine metabolite level	4524	MTHFR	ORPHA:395
HP:0033354	Abnormal urine metabolite level	875	CBS	OMIM:236200
HP:0033354	Abnormal urine metabolite level	6448	SGSH	OMIM:252900
HP:0033354	Abnormal urine metabolite level	138050	HGSNAT	OMIM:252930
HP:0033354	Abnormal urine metabolite level	4669	NAGLU	OMIM:252920
HP:0033354	Abnormal urine metabolite level	2799	GNS	OMIM:252940
HP:0033354	Abnormal urine metabolite level	120227	CYP2R1	ORPHA:289157
HP:0033354	Abnormal urine metabolite level	1716	DGUOK	OMIM:251880
HP:0033354	Abnormal urine metabolite level	3033	HADH	OMIM:231530
HP:0033354	Abnormal urine metabolite level	3033	HADH	ORPHA:71212
HP:0033354	Abnormal urine metabolite level	5837	PYGM	OMIM:232600
HP:0033354	Abnormal urine metabolite level	5257	PHKB	ORPHA:79240
HP:0033354	Abnormal urine metabolite level	1376	CPT2	ORPHA:228302
HP:0033354	Abnormal urine metabolite level	1376	CPT2	ORPHA:228305
HP:0033354	Abnormal urine metabolite level	1376	CPT2	ORPHA:228308
HP:0033354	Abnormal urine metabolite level	1376	CPT2	OMIM:255110
HP:0033354	Abnormal urine metabolite level	3032	HADHB	OMIM:620300
HP:0033354	Abnormal urine metabolite level	779	CACNA1S	ORPHA:423
HP:0033354	Abnormal urine metabolite level	6261	RYR1	ORPHA:423
HP:0033354	Abnormal urine metabolite level	6261	RYR1	OMIM:145600
HP:0033354	Abnormal urine metabolite level	23479	ISCU	OMIM:255125
HP:0033354	Abnormal urine metabolite level	226	ALDOA	ORPHA:57
HP:0033354	Abnormal urine metabolite level	23175	LPIN1	OMIM:268200
HP:0033354	Abnormal urine metabolite level	112812	FDX2	OMIM:251900
HP:0033354	Abnormal urine metabolite level	5224	PGAM2	OMIM:261670
HP:0033354	Abnormal urine metabolite level	5256	PHKA2	ORPHA:264580
HP:0033354	Abnormal urine metabolite level	5261	PHKG2	ORPHA:264580
HP:0033354	Abnormal urine metabolite level	128989	TANGO2	OMIM:616878
HP:0033354	Abnormal urine metabolite level	90523	MLIP	OMIM:620138
HP:0033354	Abnormal urine metabolite level	3939	LDHA	OMIM:612933
HP:0033354	Abnormal urine metabolite level	6443	SGCB	ORPHA:119
HP:0033354	Abnormal urine metabolite level	5230	PGK1	ORPHA:713
HP:0033354	Abnormal urine metabolite level	3030	HADHA	OMIM:609015
HP:0033354	Abnormal urine metabolite level	5255	PHKA1	ORPHA:715
HP:0033354	Abnormal urine metabolite level	5260	PHKG1	ORPHA:715
HP:0033354	Abnormal urine metabolite level	1756	DMD	ORPHA:98895
HP:0033354	Abnormal urine metabolite level	203859	ANO5	ORPHA:206549
HP:0033354	Abnormal urine metabolite level	38	ACAT1	ORPHA:134
HP:0033354	Abnormal urine metabolite level	84987	COX14	OMIM:619053
HP:0033354	Abnormal urine metabolite level	10128	LRPPRC	OMIM:220111
HP:0033354	Abnormal urine metabolite level	3155	HMGCL	ORPHA:20
HP:0033354	Abnormal urine metabolite level	3155	HMGCL	OMIM:246450
HP:0033354	Abnormal urine metabolite level	51241	COX16	OMIM:619355
HP:0033354	Abnormal urine metabolite level	5105	PCK1	OMIM:261680
HP:0033354	Abnormal urine metabolite level	1537	CYC1	OMIM:615453
HP:0033354	Abnormal urine metabolite level	763	CA5A	OMIM:615751
HP:0033354	Abnormal urine metabolite level	1374	CPT1A	OMIM:255120
HP:0033354	Abnormal urine metabolite level	5078	PAX4	OMIM:612225
HP:0033354	Abnormal urine metabolite level	25974	MMACHC	ORPHA:79282
HP:0033354	Abnormal urine metabolite level	5019	OXCT1	OMIM:245050
HP:0033354	Abnormal urine metabolite level	64087	MCCC2	OMIM:210210
HP:0033354	Abnormal urine metabolite level	84693	MCEE	OMIM:251120
HP:0033354	Abnormal urine metabolite level	3767	KCNJ11	ORPHA:79644
HP:0033354	Abnormal urine metabolite level	3767	KCNJ11	ORPHA:99885
HP:0033354	Abnormal urine metabolite level	2639	GCDH	OMIM:231670
HP:0033354	Abnormal urine metabolite level	166785	MMAA	OMIM:251100
HP:0033354	Abnormal urine metabolite level	79783	SUGCT	ORPHA:35706
HP:0033354	Abnormal urine metabolite level	3158	HMGCS2	OMIM:605911
HP:0033354	Abnormal urine metabolite level	3712	IVD	ORPHA:33
HP:0033354	Abnormal urine metabolite level	6514	SLC2A2	OMIM:227810
HP:0033354	Abnormal urine metabolite level	1594	CYP27B1	OMIM:264700
HP:0033354	Abnormal urine metabolite level	6566	SLC16A1	OMIM:616095
HP:0033354	Abnormal urine metabolite level	6392	SDHD	OMIM:619167
HP:0033354	Abnormal urine metabolite level	6833	ABCC8	OMIM:618857
HP:0033354	Abnormal urine metabolite level	6833	ABCC8	ORPHA:99885
HP:0033354	Abnormal urine metabolite level	132001	TAMM41	OMIM:620139
HP:0033354	Abnormal urine metabolite level	2998	GYS2	ORPHA:2089
HP:0033354	Abnormal urine metabolite level	56922	MCCC1	OMIM:210200
HP:0033354	Abnormal urine metabolite level	10165	SLC25A13	ORPHA:247598
HP:0033354	Abnormal urine metabolite level	326625	MMAB	OMIM:251110
HP:0033354	Abnormal urine metabolite level	6774	STAT3	ORPHA:99885
HP:0033354	Abnormal urine metabolite level	2645	GCK	ORPHA:99885
HP:0033354	Abnormal urine metabolite level	3651	PDX1	ORPHA:99885
HP:0033354	Abnormal urine metabolite level	3630	INS	ORPHA:99885
HP:0033354	Abnormal urine metabolite level	8462	KLF11	ORPHA:552
HP:0033354	Abnormal urine metabolite level	26060	APPL1	ORPHA:552
HP:0033354	Abnormal urine metabolite level	1056	CEL	ORPHA:552
HP:0033354	Abnormal urine metabolite level	4760	NEUROD1	ORPHA:552
HP:0033354	Abnormal urine metabolite level	6927	HNF1A	ORPHA:552
HP:0033354	Abnormal urine metabolite level	6524	SLC5A2	ORPHA:69076
HP:0033354	Abnormal urine metabolite level	6524	SLC5A2	OMIM:233100
HP:0033354	Abnormal urine metabolite level	286053	NSMCE2	OMIM:617253
HP:0033354	Abnormal urine metabolite level	229	ALDOB	OMIM:229600
HP:0033354	Abnormal urine metabolite level	6523	SLC5A1	OMIM:606824
HP:0033354	Abnormal urine metabolite level	2627	GATA6	OMIM:600001
HP:0033354	Abnormal urine metabolite level	57570	TRMT5	OMIM:616539
HP:0033354	Abnormal urine metabolite level	387700	SLC16A12	OMIM:612018
HP:0033354	Abnormal urine metabolite level	2110	ETFDH	OMIM:231680
HP:0033354	Abnormal urine metabolite level	2108	ETFA	OMIM:231680
HP:0033354	Abnormal urine metabolite level	2109	ETFB	OMIM:231680
HP:0033354	Abnormal urine metabolite level	8792	TNFRSF11A	OMIM:602080
HP:0033354	Abnormal urine metabolite level	8792	TNFRSF11A	OMIM:174810
HP:0033354	Abnormal urine metabolite level	153201	SLC36A2	OMIM:242600
HP:0033354	Abnormal urine metabolite level	153201	SLC36A2	ORPHA:42062
HP:0033354	Abnormal urine metabolite level	348932	SLC6A18	ORPHA:42062
HP:0033354	Abnormal urine metabolite level	54716	SLC6A20	ORPHA:42062
HP:0033354	Abnormal urine metabolite level	5352	PLOD2	OMIM:609220
HP:0033354	Abnormal urine metabolite level	2731	GLDC	OMIM:605899
HP:0033354	Abnormal urine metabolite level	9581	PREPL	OMIM:616224
HP:0033354	Abnormal urine metabolite level	9581	PREPL	ORPHA:163690
HP:0033354	Abnormal urine metabolite level	9581	PREPL	ORPHA:163693
HP:0033354	Abnormal urine metabolite level	5495	PPM1B	ORPHA:163693
HP:0033354	Abnormal urine metabolite level	79823	CAMKMT	ORPHA:163693
HP:0033354	Abnormal urine metabolite level	3251	HPRT1	OMIM:300322
HP:0033354	Abnormal urine metabolite level	3251	HPRT1	OMIM:300323
HP:0033354	Abnormal urine metabolite level	3251	HPRT1	ORPHA:79233
HP:0033354	Abnormal urine metabolite level	5631	PRPS1	OMIM:300661
HP:0033354	Abnormal urine metabolite level	5631	PRPS1	ORPHA:411543
HP:0033354	Abnormal urine metabolite level	5631	PRPS1	ORPHA:411536
HP:0033354	Abnormal urine metabolite level	728294	D2HGDH	OMIM:600721
HP:0033354	Abnormal urine metabolite level	1491	CTH	OMIM:219500
HP:0033354	Abnormal urine metabolite level	1491	CTH	ORPHA:212
HP:0033354	Abnormal urine metabolite level	55788	LMBRD1	OMIM:277380
HP:0033354	Abnormal urine metabolite level	3242	HPD	OMIM:276710
HP:0033354	Abnormal urine metabolite level	3242	HPD	OMIM:140350
HP:0033354	Abnormal urine metabolite level	3242	HPD	ORPHA:2118
HP:0033354	Abnormal urine metabolite level	6898	TAT	OMIM:276600
HP:0033354	Abnormal urine metabolite level	7019	TFAM	OMIM:617156
HP:0033354	Abnormal urine metabolite level	210	ALAD	OMIM:612740
HP:0033354	Abnormal urine metabolite level	10243	GPHN	OMIM:615501
HP:0033354	Abnormal urine metabolite level	197322	ACSF3	ORPHA:289504
HP:0033354	Abnormal urine metabolite level	34	ACADM	ORPHA:42
HP:0033354	Abnormal urine metabolite level	55687	TRMU	OMIM:613070
HP:0033354	Abnormal urine metabolite level	55065	SLC52A1	OMIM:615026
HP:0033354	Abnormal urine metabolite level	788	SLC25A20	OMIM:212138
HP:0033354	Abnormal urine metabolite level	788	SLC25A20	ORPHA:159
HP:0033354	Abnormal urine metabolite level	54148	MRPL39	OMIM:620646
HP:0033354	Abnormal urine metabolite level	28976	ACAD9	OMIM:611126
HP:0033354	Abnormal urine metabolite level	28976	ACAD9	ORPHA:99901
HP:0033354	Abnormal urine metabolite level	5195	PEX14	OMIM:614887
HP:0033354	Abnormal urine metabolite level	27034	ACAD8	ORPHA:79159
HP:0033354	Abnormal urine metabolite level	6584	SLC22A5	OMIM:212140
HP:0033354	Abnormal urine metabolite level	790	CAD	OMIM:616457
HP:0033354	Abnormal urine metabolite level	383	ARG1	OMIM:207800
HP:0033354	Abnormal urine metabolite level	445	ASS1	OMIM:215700
HP:0033354	Abnormal urine metabolite level	498	ATP5F1A	OMIM:620358
HP:0033354	Abnormal urine metabolite level	10166	SLC25A15	ORPHA:415
HP:0033354	Abnormal urine metabolite level	23474	ETHE1	ORPHA:51188
HP:0033354	Abnormal urine metabolite level	23474	ETHE1	OMIM:602473
HP:0033354	Abnormal urine metabolite level	3329	HSPD1	OMIM:612233
HP:0033354	Abnormal urine metabolite level	35	ACADS	OMIM:201470
HP:0033354	Abnormal urine metabolite level	35	ACADS	ORPHA:26792
HP:0033354	Abnormal urine metabolite level	249	ALPL	OMIM:146300
HP:0033354	Abnormal urine metabolite level	249	ALPL	OMIM:241500
HP:0033354	Abnormal urine metabolite level	249	ALPL	OMIM:241510
HP:0033354	Abnormal urine metabolite level	3000	GUCY2D	OMIM:204000
HP:0033354	Abnormal urine metabolite level	133686	NADK2	OMIM:616034
HP:0033354	Abnormal urine metabolite level	80207	OPA3	OMIM:258501
HP:0033354	Abnormal urine metabolite level	131118	DNAJC19	OMIM:610198
HP:0033354	Abnormal urine metabolite level	27429	HTRA2	OMIM:617248
HP:0033354	Abnormal urine metabolite level	92609	TIMM50	OMIM:617698
HP:0033354	Abnormal urine metabolite level	6530	SLC6A2	OMIM:604715
HP:0033354	Abnormal urine metabolite level	435	ASL	ORPHA:23
HP:0033354	Abnormal urine metabolite level	435	ASL	OMIM:207900
HP:0033354	Abnormal urine metabolite level	6505	SLC1A1	OMIM:222730
HP:0033354	Abnormal urine metabolite level	51095	TRNT1	OMIM:616084
HP:0033354	Abnormal urine metabolite level	54914	FOCAD	OMIM:619991
HP:0033354	Abnormal urine metabolite level	10667	FARS2	OMIM:614946
HP:0033354	Abnormal urine metabolite level	5830	PEX5	OMIM:214110
HP:0033354	Abnormal urine metabolite level	1373	CPS1	ORPHA:147
HP:0033354	Abnormal urine metabolite level	5009	OTC	ORPHA:664
HP:0033354	Abnormal urine metabolite level	7372	UMPS	ORPHA:30
HP:0033354	Abnormal urine metabolite level	617	BCS1L	OMIM:603358
HP:0033354	Abnormal urine metabolite level	617	BCS1L	OMIM:124000
HP:0033354	Abnormal urine metabolite level	4141	MARS1	OMIM:615486
HP:0033354	Abnormal urine metabolite level	2628	GATM	OMIM:134600
HP:0033354	Abnormal urine metabolite level	55503	TRPV6	ORPHA:417
HP:0033354	Abnormal urine metabolite level	846	CASR	ORPHA:417
HP:0033354	Abnormal urine metabolite level	846	CASR	OMIM:239200
HP:0033354	Abnormal urine metabolite level	2729	GCLC	ORPHA:33574
HP:0033354	Abnormal urine metabolite level	1962	EHHADH	OMIM:615605
HP:0033354	Abnormal urine metabolite level	4942	OAT	ORPHA:414
HP:0033354	Abnormal urine metabolite level	100131801	PET100	OMIM:619055
HP:0033354	Abnormal urine metabolite level	10560	SLC19A2	OMIM:249270
HP:0033354	Abnormal urine metabolite level	7084	TK2	OMIM:609560
HP:0033354	Abnormal urine metabolite level	50628	GEMIN4	OMIM:617913
HP:0033354	Abnormal urine metabolite level	91647	ATPAF2	OMIM:604273
HP:0033354	Abnormal urine metabolite level	3081	HGD	ORPHA:56
HP:0033354	Abnormal urine metabolite level	8803	SUCLA2	OMIM:612073
HP:0033354	Abnormal urine metabolite level	8803	SUCLA2	ORPHA:1933
HP:0033354	Abnormal urine metabolite level	132158	GLYCTK	OMIM:220120
HP:0033354	Abnormal urine metabolite level	9054	NFS1	OMIM:619386
HP:0033354	Abnormal urine metabolite level	50484	RRM2B	OMIM:612075
HP:0033354	Abnormal urine metabolite level	26275	HIBCH	OMIM:250620
HP:0033354	Abnormal urine metabolite level	2068	ERCC2	ORPHA:910
HP:0033354	Abnormal urine metabolite level	7507	XPA	ORPHA:910
HP:0033354	Abnormal urine metabolite level	2071	ERCC3	ORPHA:910
HP:0033354	Abnormal urine metabolite level	7508	XPC	ORPHA:910
HP:0033354	Abnormal urine metabolite level	1643	DDB2	ORPHA:910
HP:0033354	Abnormal urine metabolite level	2073	ERCC5	ORPHA:910
HP:0033354	Abnormal urine metabolite level	2582	GALE	OMIM:230350
HP:0033354	Abnormal urine metabolite level	11005	SPINK5	ORPHA:634
HP:0033354	Abnormal urine metabolite level	6999	TDO2	OMIM:600627
HP:0033354	Abnormal urine metabolite level	4668	NAGA	OMIM:609241
HP:0033354	Abnormal urine metabolite level	4668	NAGA	OMIM:609242
HP:0033354	Abnormal urine metabolite level	4758	NEU1	ORPHA:812
HP:0033354	Abnormal urine metabolite level	4758	NEU1	OMIM:256550
HP:0033354	Abnormal urine metabolite level	6557	SLC12A1	OMIM:601678
HP:0033354	Abnormal urine metabolite level	7809	BSND	ORPHA:89938
HP:0033354	Abnormal urine metabolite level	1187	CLCNKA	ORPHA:89938
HP:0033354	Abnormal urine metabolite level	3758	KCNJ1	OMIM:241200
HP:0033354	Abnormal urine metabolite level	6519	SLC3A1	OMIM:220100
HP:0033354	Abnormal urine metabolite level	11136	SLC7A9	OMIM:220100
HP:0033354	Abnormal urine metabolite level	55768	NGLY1	OMIM:615273
HP:0033354	Abnormal urine metabolite level	26235	FBXL4	OMIM:615471
HP:0033354	Abnormal urine metabolite level	4509	MT-ATP8	ORPHA:254913
HP:0033354	Abnormal urine metabolite level	514	ATP5F1E	ORPHA:254913
HP:0033354	Abnormal urine metabolite level	514	ATP5F1E	OMIM:614053
HP:0033354	Abnormal urine metabolite level	513	ATP5F1D	ORPHA:254913
HP:0033354	Abnormal urine metabolite level	513	ATP5F1D	OMIM:618120
HP:0033354	Abnormal urine metabolite level	4508	MT-ATP6	ORPHA:254913
HP:0033354	Abnormal urine metabolite level	84833	ATP5MK	ORPHA:254913
HP:0033354	Abnormal urine metabolite level	125988	MICOS13	OMIM:618329
HP:0033354	Abnormal urine metabolite level	125988	MICOS13	ORPHA:67047
HP:0033354	Abnormal urine metabolite level	81570	CLPB	OMIM:619835
HP:0033354	Abnormal urine metabolite level	81570	CLPB	OMIM:619813
HP:0033354	Abnormal urine metabolite level	81570	CLPB	ORPHA:445038
HP:0033354	Abnormal urine metabolite level	81570	CLPB	OMIM:616271
HP:0033354	Abnormal urine metabolite level	5428	POLG	OMIM:203700
HP:0033354	Abnormal urine metabolite level	549	AUH	OMIM:250950
HP:0033354	Abnormal urine metabolite level	549	AUH	ORPHA:67046
HP:0033354	Abnormal urine metabolite level	55750	AGK	OMIM:212350
HP:0033354	Abnormal urine metabolite level	55210	ATAD3A	ORPHA:496790
HP:0033354	Abnormal urine metabolite level	54968	TMEM70	OMIM:614052
HP:0033354	Abnormal urine metabolite level	54968	TMEM70	ORPHA:1194
HP:0033354	Abnormal urine metabolite level	8802	SUCLG1	ORPHA:17
HP:0033354	Abnormal urine metabolite level	6901	TAFAZZIN	OMIM:302060
HP:0033354	Abnormal urine metabolite level	84947	SERAC1	OMIM:614739
HP:0033354	Abnormal urine metabolite level	2990	GUSB	OMIM:253220
HP:0033354	Abnormal urine metabolite level	65082	VPS33A	ORPHA:505248
HP:0033354	Abnormal urine metabolite level	3425	IDUA	OMIM:607014
HP:0033354	Abnormal urine metabolite level	2720	GLB1	ORPHA:79255
HP:0033354	Abnormal urine metabolite level	3423	IDS	OMIM:309900
HP:0033354	Abnormal urine metabolite level	4337	MOCS1	OMIM:252150
HP:0033354	Abnormal urine metabolite level	2328	FMO3	OMIM:602079
HP:0033354	Abnormal urine metabolite level	2328	FMO3	ORPHA:468726
HP:0033354	Abnormal urine metabolite level	8573	CASK	OMIM:300908
HP:0033354	Abnormal urine metabolite level	2539	G6PD	OMIM:300908
HP:0033354	Abnormal urine metabolite level	51251	NT5C3A	OMIM:266120
HP:0033354	Abnormal urine metabolite level	3075	CFH	ORPHA:244242
HP:0033354	Abnormal urine metabolite level	3426	CFI	ORPHA:244242
HP:0033354	Abnormal urine metabolite level	4179	CD46	ORPHA:244242
HP:0033354	Abnormal urine metabolite level	101101692	HELLPAR	ORPHA:244242
HP:0033354	Abnormal urine metabolite level	9780	PIEZO1	OMIM:194380
HP:0033354	Abnormal urine metabolite level	5277	PIGA	ORPHA:447
HP:0033354	Abnormal urine metabolite level	27235	COQ2	OMIM:607426
HP:0033354	Abnormal urine metabolite level	84033	OBSCN	ORPHA:99845
HP:0033354	Abnormal urine metabolite level	4512	MT-CO1	ORPHA:99845
HP:0033354	Abnormal urine metabolite level	4514	MT-CO3	ORPHA:99845
HP:0033354	Abnormal urine metabolite level	51604	PIGT	OMIM:615399
HP:0033354	Abnormal urine metabolite level	966	CD59	OMIM:612300
HP:0033354	Abnormal urine metabolite level	55343	SLC35C1	OMIM:266265
HP:0033354	Abnormal urine metabolite level	285362	SUMF1	ORPHA:585
HP:0033354	Abnormal urine metabolite level	285362	SUMF1	OMIM:272200
HP:0033354	Abnormal urine metabolite level	84572	GNPTG	OMIM:252605
HP:0033354	Abnormal urine metabolite level	6023	RMRP	ORPHA:175
HP:0033354	Abnormal urine metabolite level	59341	TRPV4	OMIM:184095
HP:0033354	Abnormal urine metabolite level	5286	PIK3C2A	OMIM:618440
HP:0033354	Abnormal urine metabolite level	79158	GNPTAB	OMIM:252600
HP:0033354	Abnormal urine metabolite level	79158	GNPTAB	OMIM:252500
HP:0033354	Abnormal urine metabolite level	4724	NDUFS4	OMIM:252010
HP:0033354	Abnormal urine metabolite level	153642	ARSK	OMIM:619698
HP:0033354	Abnormal urine metabolite level	411	ARSB	OMIM:253200
HP:0033354	Abnormal urine metabolite level	5213	PFKM	OMIM:232800
HP:0033354	Abnormal urine metabolite level	37	ACADVL	OMIM:201475
HP:0033354	Abnormal urine metabolite level	729920	CRPPA	ORPHA:352479
HP:0033354	Abnormal urine metabolite level	79147	FKRP	OMIM:607155
HP:0033354	Abnormal urine metabolite level	4125	MAN2B1	ORPHA:309282
HP:0033354	Abnormal urine metabolite level	4125	MAN2B1	ORPHA:309288
HP:0033354	Abnormal urine metabolite level	2548	GAA	ORPHA:308552
HP:0033354	Abnormal urine metabolite level	57231	SNX14	OMIM:616354
HP:0033354	Abnormal urine metabolite level	57231	SNX14	ORPHA:397709
HP:0033354	Abnormal urine metabolite level	5498	PPOX	OMIM:176200
HP:0033354	Abnormal urine metabolite level	5498	PPOX	ORPHA:79473
HP:0033354	Abnormal urine metabolite level	1371	CPOX	ORPHA:79273
HP:0033354	Abnormal urine metabolite level	7389	UROD	OMIM:176100
HP:0033354	Abnormal urine metabolite level	28234	SLCO1B3	ORPHA:3111
HP:0033354	Abnormal urine metabolite level	10599	SLCO1B1	ORPHA:3111
HP:0033354	Abnormal urine metabolite level	3145	HMBS	ORPHA:79276
HP:0033354	Abnormal urine metabolite level	7390	UROS	ORPHA:79277
HP:0033354	Abnormal urine metabolite level	2623	GATA1	ORPHA:79277
HP:0033354	Abnormal urine metabolite level	1757	SARDH	ORPHA:3129
HP:0033354	Abnormal urine metabolite level	7498	XDH	OMIM:278300
HP:0033354	Abnormal urine metabolite level	4338	MOCS2	OMIM:252160
HP:0033354	Abnormal urine metabolite level	55034	MOCOS	OMIM:603592
HP:0033354	Abnormal urine metabolite level	23095	KIF1B	OMIM:256700
HP:0033354	Abnormal urine metabolite level	4860	PNP	ORPHA:760
HP:0033354	Abnormal urine metabolite level	4860	PNP	OMIM:613179
HP:0033354	Abnormal urine metabolite level	6821	SUOX	OMIM:272300
HP:0033354	Abnormal urine metabolite level	7428	VHL	ORPHA:892
HP:0033354	Abnormal urine metabolite level	595	CCND1	ORPHA:892
HP:0033354	Abnormal urine metabolite level	4613	MYCN	ORPHA:635
HP:0033354	Abnormal urine metabolite level	238	ALK	ORPHA:635
HP:0033354	Abnormal urine metabolite level	389421	LIN28B	ORPHA:635
HP:0033354	Abnormal urine metabolite level	4004	LMO1	ORPHA:635
HP:0033354	Abnormal urine metabolite level	57531	HACE1	ORPHA:635
HP:0033354	Abnormal urine metabolite level	8929	PHOX2B	ORPHA:635
HP:0033354	Abnormal urine metabolite level	6390	SDHB	OMIM:115310
HP:0033354	Abnormal urine metabolite level	1621	DBH	ORPHA:230
HP:0033354	Abnormal urine metabolite level	2584	GALK1	OMIM:230200
HP:0033354	Abnormal urine metabolite level	9652	SKIC3	OMIM:222470
HP:0033354	Abnormal urine metabolite level	93986	FOXP2	ORPHA:251061
HP:0033354	Abnormal urine metabolite level	4126	MANBA	OMIM:248510
HP:0033354	Abnormal urine metabolite level	2517	FUCA1	OMIM:230000
HP:0033354	Abnormal urine metabolite level	175	AGA	OMIM:208400
HP:0033354	Abnormal urine metabolite level	175	AGA	ORPHA:93
HP:0033354	Abnormal urine metabolite level	2588	GALNS	OMIM:253000
HP:0033354	Abnormal urine metabolite level	119559	SFXN4	OMIM:615578
HP:0033354	Abnormal urine metabolite level	3054	HCFC1	OMIM:309541
HP:0033354	Abnormal urine metabolite level	23417	MLYCD	OMIM:248360
HP:0033354	Abnormal urine metabolite level	6948	TCN2	OMIM:275350
HP:0033354	Abnormal urine metabolite level	6948	TCN2	ORPHA:859
HP:0033354	Abnormal urine metabolite level	27249	MMADHC	OMIM:277410
HP:0033354	Abnormal urine metabolite level	4594	MMUT	OMIM:251000
HP:0033354	Abnormal urine metabolite level	4552	MTRR	OMIM:236270
HP:0033354	Abnormal urine metabolite level	51293	CD320	OMIM:613646
HP:0033354	Abnormal urine metabolite level	5826	ABCD4	OMIM:614857
HP:0033354	Abnormal urine metabolite level	4548	MTR	OMIM:250940
HP:0033354	Abnormal urine metabolite level	1806	DPYD	OMIM:274270
HP:0033354	Abnormal urine metabolite level	1806	DPYD	ORPHA:1675
HP:0033354	Abnormal urine metabolite level	1807	DPYS	OMIM:222748
HP:0033354	Abnormal urine metabolite level	131669	UROC1	OMIM:276880
HP:0033354	Abnormal urine metabolite level	131669	UROC1	ORPHA:210128
HP:0033354	Abnormal urine metabolite level	3418	IDH2	OMIM:613657
HP:0033354	Abnormal urine metabolite level	3417	IDH1	ORPHA:99646
HP:0033354	Abnormal urine metabolite level	4967	OGDH	ORPHA:31
HP:0033354	Abnormal urine metabolite level	9488	PIGB	OMIM:618580
HP:0033354	Abnormal urine metabolite level	2746	GLUD1	ORPHA:35878
HP:0033354	Abnormal urine metabolite level	27247	NFU1	OMIM:605711
HP:0033354	Abnormal urine metabolite level	57465	TBC1D24	OMIM:220500
HP:0033354	Abnormal urine metabolite level	57465	TBC1D24	ORPHA:79500
HP:0033354	Abnormal urine metabolite level	27010	TPK1	OMIM:614458
HP:0033354	Abnormal urine metabolite level	1738	DLD	ORPHA:2394
HP:0033354	Abnormal urine metabolite level	6576	SLC25A1	OMIM:615182
HP:0033354	Abnormal urine metabolite level	8659	ALDH4A1	ORPHA:79101
HP:0033354	Abnormal urine metabolite level	64849	SLC13A3	OMIM:618384
HP:0033354	Abnormal urine metabolite level	526	ATP6V1B2	ORPHA:79500
HP:0033354	Abnormal urine metabolite level	10157	AASS	ORPHA:2203
HP:0033354	Abnormal urine metabolite level	10686	CLDN16	OMIM:248250
HP:0033354	Abnormal urine metabolite level	27199	OXGR1	OMIM:620374
HP:0033354	Abnormal urine metabolite level	9493	KIF23	OMIM:105600
HP:0033354	Abnormal urine metabolite level	51726	DNAJB11	ORPHA:730
HP:0033354	Abnormal urine metabolite level	23193	GANAB	ORPHA:730
HP:0033354	Abnormal urine metabolite level	5310	PKD1	ORPHA:730
HP:0033354	Abnormal urine metabolite level	5311	PKD2	ORPHA:730
HP:0033354	Abnormal urine metabolite level	29880	ALG5	ORPHA:730
HP:0033354	Abnormal urine metabolite level	9742	IFT140	ORPHA:730
HP:0033354	Abnormal urine metabolite level	79796	ALG9	ORPHA:730
HP:0033354	Abnormal urine metabolite level	80114	BICC1	ORPHA:730
HP:0033354	Abnormal urine metabolite level	2592	GALT	OMIM:230400
HP:0033354	Abnormal urine metabolite level	4000	LMNA	OMIM:151660
HP:0033354	Abnormal urine metabolite level	5189	PEX1	OMIM:214100
HP:0033354	Abnormal urine metabolite level	975	CD81	OMIM:613496
HP:0033354	Abnormal urine metabolite level	1650	DDOST	ORPHA:300536
HP:0033354	Abnormal urine metabolite level	9722	NOS1AP	OMIM:619155
HP:0033354	Abnormal urine metabolite level	375056	MIA3	OMIM:619269
HP:0033354	Abnormal urine metabolite level	51124	IER3IP1	OMIM:614231
HP:0033354	Abnormal urine metabolite level	1736	DKC1	OMIM:301108
HP:0033354	Abnormal urine metabolite level	55610	VPS50	OMIM:619685
HP:0033354	Abnormal urine metabolite level	3735	KARS1	OMIM:619147
HP:0033354	Abnormal urine metabolite level	56606	SLC2A9	ORPHA:94088
HP:0033354	Abnormal urine metabolite level	10861	SLC26A1	OMIM:620372
HP:0033354	Abnormal urine metabolite level	7381	UQCRB	OMIM:615158
HP:0033354	Abnormal urine metabolite level	51601	LIPT1	OMIM:616299
HP:0033354	Abnormal urine metabolite level	23729	SHPK	OMIM:617213
HP:0033354	Abnormal urine metabolite level	1184	CLCN5	OMIM:308990
HP:0033354	Abnormal urine metabolite level	85007	PHYKPL	OMIM:615011
HP:0033354	Abnormal urine metabolite level	29958	DMGDH	OMIM:605850
HP:0033354	Abnormal urine metabolite level	51181	DCXR	ORPHA:2843
HP:0033354	Abnormal urine metabolite level	3795	KHK	ORPHA:2056
HP:0033354	Abnormal urine metabolite level	1280	COL2A1	ORPHA:93315
HP:0033354	Abnormal urine metabolite level	4882	NPR2	OMIM:615923
HP:0033354	Abnormal urine metabolite level	51117	COQ4	OMIM:616276
HP:0033354	Abnormal urine metabolite level	64902	AGXT2	OMIM:210100
HP:0033354	Abnormal urine metabolite level	200205	IBA57	OMIM:615330
HP:0033354	Abnormal urine metabolite level	4716	NDUFB10	OMIM:619003
HP:0033354	Abnormal urine metabolite level	2717	GLA	OMIM:301500
HP:0033354	Abnormal urine metabolite level	9154	SLC28A1	OMIM:618477
HP:0033354	Abnormal urine metabolite level	6341	SCO1	OMIM:619048
HP:0033354	Abnormal urine metabolite level	5184	PEPD	OMIM:170100
HP:0033354	Abnormal urine metabolite level	36	ACADSB	OMIM:610006
HP:0033354	Abnormal urine metabolite level	4982	TNFRSF11B	OMIM:239000
HP:0033354	Abnormal urine metabolite level	3954	LETM1	OMIM:620089
HP:0033354	Abnormal urine metabolite level	5092	PCBD1	OMIM:264070
HP:0033354	Abnormal urine metabolite level	3141	HLCS	OMIM:253270
HP:0033354	Abnormal urine metabolite level	1147	CHUK	OMIM:613630
HP:0033354	Abnormal urine metabolite level	5351	PLOD1	OMIM:225400
HP:0033354	Abnormal urine metabolite level	6578	SLCO2A1	OMIM:167100
HP:0033354	Abnormal urine metabolite level	471	ATIC	OMIM:608688
HP:0033354	Abnormal urine metabolite level	2678	GGT1	OMIM:231950
HP:0033354	Abnormal urine metabolite level	443	ASPA	OMIM:271900
HP:0033354	Abnormal urine metabolite level	443	ASPA	ORPHA:314911
HP:0033354	Abnormal urine metabolite level	79944	L2HGDH	OMIM:236792
HP:0033354	Abnormal urine metabolite level	2203	FBP1	OMIM:229700
HP:0033354	Abnormal urine metabolite level	2203	FBP1	ORPHA:348
HP:0033354	Abnormal urine metabolite level	2710	GK	OMIM:307030
HP:0033354	Abnormal urine metabolite level	22934	RPIA	OMIM:608611
HP:0033354	Abnormal urine metabolite level	5053	PAH	OMIM:261600
HP:0033354	Abnormal urine metabolite level	593	BCKDHA	OMIM:248600
HP:0033354	Abnormal urine metabolite level	5095	PCCA	OMIM:606054
HP:0033354	Abnormal urine metabolite level	5096	PCCB	OMIM:606054
HP:0033354	Abnormal urine metabolite level	3553	IL1B	OMIM:613659
HP:0033354	Abnormal urine metabolite level	2064	ERBB2	OMIM:613659
HP:0033354	Abnormal urine metabolite level	3557	IL1RN	OMIM:613659
HP:0033354	Abnormal urine metabolite level	324	APC	OMIM:613659
HP:0033354	Abnormal urine metabolite level	843	CASP10	OMIM:613659
HP:0033354	Abnormal urine metabolite level	3659	IRF1	OMIM:613659
HP:0033354	Abnormal urine metabolite level	2263	FGFR2	OMIM:613659
HP:0033354	Abnormal urine metabolite level	3845	KRAS	OMIM:613659
HP:0033354	Abnormal urine metabolite level	3845	KRAS	OMIM:260350
HP:0033354	Abnormal urine metabolite level	5290	PIK3CA	OMIM:613659
HP:0033354	Abnormal urine metabolite level	1316	KLF6	OMIM:613659
HP:0033354	Abnormal urine metabolite level	4595	MUTYH	OMIM:613659
HP:0033354	Abnormal urine metabolite level	3875	KRT18	OMIM:215600
HP:0033354	Abnormal urine metabolite level	91	ACVR1B	OMIM:260350
HP:0033354	Abnormal urine metabolite level	4089	SMAD4	OMIM:260350
HP:0033354	Abnormal urine metabolite level	6794	STK11	OMIM:260350
HP:0033354	Abnormal urine metabolite level	7157	TP53	OMIM:260350
HP:0033354	Abnormal urine metabolite level	7086	TKT	ORPHA:488618
HP:0033354	Abnormal urine metabolite level	26873	OPLAH	OMIM:260005
HP:0033354	Abnormal urine metabolite level	2937	GSS	OMIM:266130
HP:0033354	Abnormal urine metabolite level	2937	GSS	OMIM:231900
HP:0033354	Abnormal urine metabolite level	10020	GNE	OMIM:269921
HP:0033354	Abnormal urine metabolite level	55526	DHTKD1	OMIM:204750
HP:0033354	Abnormal urine metabolite level	3028	HSD17B10	ORPHA:391457
HP:0033354	Abnormal urine metabolite level	3028	HSD17B10	ORPHA:391428
HP:0033354	Abnormal urine metabolite level	10841	FTCD	ORPHA:51208
HP:0033354	Abnormal urine metabolite level	7915	ALDH5A1	OMIM:271980
HP:0033354	Abnormal urine metabolite level	2643	GCH1	OMIM:233910
HP:0033354	Abnormal urine metabolite level	8942	KYNU	OMIM:236800
HP:0033354	Abnormal urine metabolite level	3074	HEXB	OMIM:268800
HP:0033354	Abnormal urine metabolite level	6535	SLC6A8	OMIM:300352
HP:0033354	Abnormal urine metabolite level	340024	SLC6A19	ORPHA:2116
HP:0033354	Abnormal urine metabolite level	57393	CLTRN	ORPHA:2116
HP:0033354	Abnormal urine metabolite level	89874	SLC25A21	OMIM:618811
HP:0033354	Abnormal urine metabolite level	158	ADSL	OMIM:103050
HP:0033354	Abnormal urine metabolite level	5193	PEX12	OMIM:266510
HP:0033354	Abnormal urine metabolite level	189	AGXT	OMIM:259900
HP:0033354	Abnormal urine metabolite level	1892	ECHS1	OMIM:616277
HP:0033354	Abnormal urine metabolite level	51733	UPB1	OMIM:613161
HP:0033354	Abnormal urine metabolite level	2184	FAH	OMIM:276700
HP:0033354	Abnormal urine metabolite level	4598	MVK	OMIM:610377
HP:0033354	Abnormal urine metabolite level	4329	ALDH6A1	OMIM:614105
HP:0033354	Abnormal urine metabolite level	3034	HAL	OMIM:235800
HP:0033354	Abnormal urine metabolite level	9380	GRHPR	OMIM:260000
HP:0033354	Abnormal urine metabolite level	2222	FDFT1	OMIM:618156
HP:0033354	Abnormal urine metabolite level	2593	GAMT	OMIM:612736
HP:0033354	Abnormal urine metabolite level	6571	SLC18A2	OMIM:618049
HP:0033354	Abnormal urine metabolite level	1644	DDC	OMIM:608643
HP:0033354	Abnormal urine metabolite level	1593	CYP27A1	OMIM:213700
HP:0033353	Abnormal blood vessel morphology	90952	ESAM	OMIM:620371
HP:0033353	Abnormal blood vessel morphology	5295	PIK3R1	OMIM:269880
HP:0033353	Abnormal blood vessel morphology	10269	ZMPSTE24	OMIM:608612
HP:0033353	Abnormal blood vessel morphology	716	C1S	OMIM:617174
HP:0033353	Abnormal blood vessel morphology	165	AEBP1	OMIM:618000
HP:0033353	Abnormal blood vessel morphology	92579	G6PC3	OMIM:612541
HP:0033353	Abnormal blood vessel morphology	8815	BANF1	OMIM:614008
HP:0033353	Abnormal blood vessel morphology	5468	PPARG	ORPHA:528
HP:0033353	Abnormal blood vessel morphology	5468	PPARG	OMIM:604367
HP:0033353	Abnormal blood vessel morphology	10555	AGPAT2	ORPHA:528
HP:0033353	Abnormal blood vessel morphology	26580	BSCL2	ORPHA:528
HP:0033353	Abnormal blood vessel morphology	2353	FOS	ORPHA:528
HP:0033353	Abnormal blood vessel morphology	857	CAV1	ORPHA:528
HP:0033353	Abnormal blood vessel morphology	25839	COG4	OMIM:618150
HP:0033353	Abnormal blood vessel morphology	715	C1R	OMIM:130080
HP:0033353	Abnormal blood vessel morphology	221496	LEMD2	OMIM:619322
HP:0033353	Abnormal blood vessel morphology	5159	PDGFRB	OMIM:601812
HP:0033353	Abnormal blood vessel morphology	4000	LMNA	OMIM:151660
HP:0033353	Abnormal blood vessel morphology	4000	LMNA	ORPHA:79474
HP:0033353	Abnormal blood vessel morphology	91252	SLC39A13	OMIM:612350
HP:0033353	Abnormal blood vessel morphology	529	ATP6V1E1	OMIM:617402
HP:0033353	Abnormal blood vessel morphology	84919	PPP1R15B	OMIM:616817
HP:0033353	Abnormal blood vessel morphology	7424	VEGFC	OMIM:615907
HP:0033353	Abnormal blood vessel morphology	84168	ANTXR1	OMIM:230740
HP:0033353	Abnormal blood vessel morphology	9791	PTDSS1	OMIM:151050
HP:0033353	Abnormal blood vessel morphology	11128	POLR3A	OMIM:264090
HP:0033353	Abnormal blood vessel morphology	11128	POLR3A	ORPHA:3455
HP:0033353	Abnormal blood vessel morphology	8322	FZD4	ORPHA:90050
HP:0033353	Abnormal blood vessel morphology	51085	MLXIPL	OMIM:194050
HP:0033353	Abnormal blood vessel morphology	4508	MT-ATP6	ORPHA:644
HP:0033353	Abnormal blood vessel morphology	5885	RAD21	OMIM:614701
HP:0033353	Abnormal blood vessel morphology	7355	SLC35A2	ORPHA:356961
HP:0033353	Abnormal blood vessel morphology	23414	ZFPM2	ORPHA:3303
HP:0033353	Abnormal blood vessel morphology	23414	ZFPM2	OMIM:187500
HP:0033353	Abnormal blood vessel morphology	3791	KDR	ORPHA:3303
HP:0033353	Abnormal blood vessel morphology	8443	GNPAT	OMIM:222765
HP:0033353	Abnormal blood vessel morphology	26275	HIBCH	ORPHA:88639
HP:0033353	Abnormal blood vessel morphology	26275	HIBCH	OMIM:250620
HP:0033353	Abnormal blood vessel morphology	29998	BICRA	OMIM:619325
HP:0033353	Abnormal blood vessel morphology	83479	DDX59	OMIM:174300
HP:0033353	Abnormal blood vessel morphology	83479	DDX59	ORPHA:2919
HP:0033353	Abnormal blood vessel morphology	51684	SUFU	ORPHA:280200
HP:0033353	Abnormal blood vessel morphology	1147	CHUK	OMIM:613630
HP:0033353	Abnormal blood vessel morphology	7852	CXCR4	ORPHA:51636
HP:0033353	Abnormal blood vessel morphology	8092	ALX1	ORPHA:306542
HP:0033353	Abnormal blood vessel morphology	3579	CXCR2	OMIM:619407
HP:0033353	Abnormal blood vessel morphology	2542	SLC37A4	OMIM:619525
HP:0033353	Abnormal blood vessel morphology	9897	WASHC5	OMIM:220210
HP:0033353	Abnormal blood vessel morphology	9897	WASHC5	ORPHA:7
HP:0033353	Abnormal blood vessel morphology	10084	PQBP1	OMIM:309500
HP:0033353	Abnormal blood vessel morphology	1663	DDX11	OMIM:613398
HP:0033353	Abnormal blood vessel morphology	57020	VPS35L	ORPHA:7
HP:0033353	Abnormal blood vessel morphology	56896	DPYSL5	ORPHA:7
HP:0033353	Abnormal blood vessel morphology	257	ALX3	OMIM:136760
HP:0033353	Abnormal blood vessel morphology	27152	INTU	OMIM:617925
HP:0033353	Abnormal blood vessel morphology	27152	INTU	OMIM:617926
HP:0033353	Abnormal blood vessel morphology	1718	DHCR24	OMIM:602398
HP:0033353	Abnormal blood vessel morphology	1718	DHCR24	ORPHA:35107
HP:0033353	Abnormal blood vessel morphology	26235	FBXL4	OMIM:615471
HP:0033353	Abnormal blood vessel morphology	51126	NAA20	OMIM:619717
HP:0033353	Abnormal blood vessel morphology	7021	TFAP2B	OMIM:169100
HP:0033353	Abnormal blood vessel morphology	7021	TFAP2B	ORPHA:46627
HP:0033353	Abnormal blood vessel morphology	7021	TFAP2B	OMIM:617035
HP:0033353	Abnormal blood vessel morphology	1788	DNMT3A	ORPHA:404443
HP:0033353	Abnormal blood vessel morphology	1131	CHRM3	ORPHA:2970
HP:0033353	Abnormal blood vessel morphology	1131	CHRM3	OMIM:100100
HP:0033353	Abnormal blood vessel morphology	9578	CDC42BPB	OMIM:619841
HP:0033353	Abnormal blood vessel morphology	8942	KYNU	OMIM:617661
HP:0033353	Abnormal blood vessel morphology	55790	CSGALNACT1	OMIM:618870
HP:0033353	Abnormal blood vessel morphology	65082	VPS33A	OMIM:617303
HP:0033353	Abnormal blood vessel morphology	65082	VPS33A	ORPHA:505248
HP:0033353	Abnormal blood vessel morphology	55690	PACS1	OMIM:615009
HP:0033353	Abnormal blood vessel morphology	55690	PACS1	ORPHA:329224
HP:0033353	Abnormal blood vessel morphology	9200	HACD1	OMIM:619967
HP:0033353	Abnormal blood vessel morphology	23384	SPECC1L	ORPHA:1519
HP:0033353	Abnormal blood vessel morphology	3764	KCNJ8	ORPHA:1517
HP:0033353	Abnormal blood vessel morphology	10060	ABCC9	ORPHA:1517
HP:0033353	Abnormal blood vessel morphology	10060	ABCC9	OMIM:239850
HP:0033353	Abnormal blood vessel morphology	9723	SEMA3E	ORPHA:138
HP:0033353	Abnormal blood vessel morphology	57231	SNX14	ORPHA:397709
HP:0033353	Abnormal blood vessel morphology	5189	PEX1	OMIM:214100
HP:0033353	Abnormal blood vessel morphology	54880	BCOR	ORPHA:2712
HP:0033353	Abnormal blood vessel morphology	54880	BCOR	OMIM:300166
HP:0033353	Abnormal blood vessel morphology	4853	NOTCH2	OMIM:102500
HP:0033353	Abnormal blood vessel morphology	4853	NOTCH2	ORPHA:955
HP:0033353	Abnormal blood vessel morphology	2261	FGFR3	ORPHA:1860
HP:0033353	Abnormal blood vessel morphology	2261	FGFR3	ORPHA:93274
HP:0033353	Abnormal blood vessel morphology	2261	FGFR3	ORPHA:2363
HP:0033353	Abnormal blood vessel morphology	7994	KAT6A	ORPHA:457193
HP:0033353	Abnormal blood vessel morphology	7994	KAT6A	OMIM:616268
HP:0033353	Abnormal blood vessel morphology	8726	EED	OMIM:617561
HP:0033353	Abnormal blood vessel morphology	203286	ANKS6	OMIM:615382
HP:0033353	Abnormal blood vessel morphology	22884	WDR37	OMIM:618652
HP:0033353	Abnormal blood vessel morphology	57178	ZMIZ1	OMIM:618659
HP:0033353	Abnormal blood vessel morphology	8550	MAPKAPK5	OMIM:619869
HP:0033353	Abnormal blood vessel morphology	5950	RBP4	OMIM:615147
HP:0033353	Abnormal blood vessel morphology	11193	WBP4	OMIM:620852
HP:0033353	Abnormal blood vessel morphology	3782	KCNN3	OMIM:618658
HP:0033353	Abnormal blood vessel morphology	2296	FOXC1	OMIM:602482
HP:0033353	Abnormal blood vessel morphology	81794	ADAMTS10	OMIM:277600
HP:0033353	Abnormal blood vessel morphology	81794	ADAMTS10	ORPHA:3449
HP:0033353	Abnormal blood vessel morphology	3476	IGBP1	ORPHA:52055
HP:0033353	Abnormal blood vessel morphology	3476	IGBP1	OMIM:300472
HP:0033353	Abnormal blood vessel morphology	51604	PIGT	OMIM:615398
HP:0033353	Abnormal blood vessel morphology	51604	PIGT	ORPHA:369837
HP:0033353	Abnormal blood vessel morphology	23126	POGZ	OMIM:616364
HP:0033353	Abnormal blood vessel morphology	213	ALB	OMIM:616000
HP:0033353	Abnormal blood vessel morphology	3481	IGF2	OMIM:616489
HP:0033353	Abnormal blood vessel morphology	27125	AFF4	OMIM:616368
HP:0033353	Abnormal blood vessel morphology	27125	AFF4	ORPHA:444077
HP:0033353	Abnormal blood vessel morphology	57863	CADM3	OMIM:619519
HP:0033353	Abnormal blood vessel morphology	5590	PRKCZ	ORPHA:1606
HP:0033353	Abnormal blood vessel morphology	2563	GABRD	ORPHA:1606
HP:0033353	Abnormal blood vessel morphology	23013	SPEN	ORPHA:1606
HP:0033353	Abnormal blood vessel morphology	8510	MMP23B	ORPHA:1606
HP:0033353	Abnormal blood vessel morphology	7798	LUZP1	ORPHA:1606
HP:0033353	Abnormal blood vessel morphology	10630	PDPN	ORPHA:1606
HP:0033353	Abnormal blood vessel morphology	3339	HSPG2	ORPHA:1606
HP:0033353	Abnormal blood vessel morphology	10277	UBE4B	ORPHA:1606
HP:0033353	Abnormal blood vessel morphology	8514	KCNAB2	ORPHA:1606
HP:0033353	Abnormal blood vessel morphology	473	RERE	ORPHA:1606
HP:0033353	Abnormal blood vessel morphology	473	RERE	OMIM:616975
HP:0033353	Abnormal blood vessel morphology	63976	PRDM16	ORPHA:1606
HP:0033353	Abnormal blood vessel morphology	54897	CASZ1	ORPHA:1606
HP:0033353	Abnormal blood vessel morphology	286	ANK1	ORPHA:251066
HP:0033353	Abnormal blood vessel morphology	415	ARSL	ORPHA:79345
HP:0033353	Abnormal blood vessel morphology	1859	DYRK1A	ORPHA:464311
HP:0033353	Abnormal blood vessel morphology	1859	DYRK1A	OMIM:614104
HP:0033353	Abnormal blood vessel morphology	4247	MGAT2	ORPHA:79329
HP:0033353	Abnormal blood vessel morphology	7750	ZMYM2	OMIM:619522
HP:0033353	Abnormal blood vessel morphology	9772	TMEM94	OMIM:618316
HP:0033353	Abnormal blood vessel morphology	79971	WLS	OMIM:619648
HP:0033353	Abnormal blood vessel morphology	51341	ZBTB7A	OMIM:619769
HP:0033353	Abnormal blood vessel morphology	775	CACNA1C	OMIM:601005
HP:0033353	Abnormal blood vessel morphology	79989	IFT56	OMIM:619534
HP:0033353	Abnormal blood vessel morphology	25836	NIPBL	OMIM:122470
HP:0033353	Abnormal blood vessel morphology	85459	CEP295	OMIM:620767
HP:0033353	Abnormal blood vessel morphology	79087	ALG12	ORPHA:79324
HP:0033353	Abnormal blood vessel morphology	79087	ALG12	OMIM:607143
HP:0033353	Abnormal blood vessel morphology	51117	COQ4	OMIM:616276
HP:0033353	Abnormal blood vessel morphology	1523	CUX1	OMIM:618330
HP:0033353	Abnormal blood vessel morphology	27429	HTRA2	OMIM:617248
HP:0033353	Abnormal blood vessel morphology	5062	PAK2	OMIM:618458
HP:0033353	Abnormal blood vessel morphology	5062	PAK2	ORPHA:1571
HP:0033353	Abnormal blood vessel morphology	5908	RAP1B	OMIM:620654
HP:0033353	Abnormal blood vessel morphology	9949	AMMECR1	OMIM:300990
HP:0033353	Abnormal blood vessel morphology	9949	AMMECR1	ORPHA:86818
HP:0033353	Abnormal blood vessel morphology	6909	TBX2	OMIM:618223
HP:0033353	Abnormal blood vessel morphology	6885	MAP3K7	OMIM:617137
HP:0033353	Abnormal blood vessel morphology	253738	EBF3	ORPHA:96148
HP:0033353	Abnormal blood vessel morphology	10102	TSFM	OMIM:610505
HP:0033353	Abnormal blood vessel morphology	7372	UMPS	ORPHA:30
HP:0033353	Abnormal blood vessel morphology	8312	AXIN1	OMIM:620558
HP:0033353	Abnormal blood vessel morphology	9126	SMC3	OMIM:610759
HP:0033353	Abnormal blood vessel morphology	79068	FTO	OMIM:612938
HP:0033353	Abnormal blood vessel morphology	8626	TP63	OMIM:106260
HP:0033353	Abnormal blood vessel morphology	170302	ARX	ORPHA:452
HP:0033353	Abnormal blood vessel morphology	4784	NFIX	OMIM:602535
HP:0033353	Abnormal blood vessel morphology	2530	FUT8	OMIM:618005
HP:0033353	Abnormal blood vessel morphology	3756	KCNH1	OMIM:135500
HP:0033353	Abnormal blood vessel morphology	8260	NAA10	OMIM:300855
HP:0033353	Abnormal blood vessel morphology	11274	USP18	OMIM:617397
HP:0033353	Abnormal blood vessel morphology	93166	PRDM6	OMIM:617039
HP:0033353	Abnormal blood vessel morphology	400569	MED11	OMIM:620327
HP:0033353	Abnormal blood vessel morphology	27031	NPHP3	OMIM:267010
HP:0033353	Abnormal blood vessel morphology	27031	NPHP3	OMIM:208540
HP:0033353	Abnormal blood vessel morphology	9496	TBX4	ORPHA:261279
HP:0033353	Abnormal blood vessel morphology	1760	DMPK	ORPHA:589821
HP:0033353	Abnormal blood vessel morphology	4613	MYCN	OMIM:164280
HP:0033353	Abnormal blood vessel morphology	4613	MYCN	ORPHA:391641
HP:0033353	Abnormal blood vessel morphology	51715	RAB23	ORPHA:65759
HP:0033353	Abnormal blood vessel morphology	51715	RAB23	OMIM:201000
HP:0033353	Abnormal blood vessel morphology	1954	MEGF8	ORPHA:65759
HP:0033353	Abnormal blood vessel morphology	1954	MEGF8	OMIM:614976
HP:0033353	Abnormal blood vessel morphology	4990	SIX6	OMIM:206900
HP:0033353	Abnormal blood vessel morphology	6657	SOX2	OMIM:206900
HP:0033353	Abnormal blood vessel morphology	6657	SOX2	ORPHA:77298
HP:0033353	Abnormal blood vessel morphology	1974	EIF4A2	OMIM:620455
HP:0033353	Abnormal blood vessel morphology	164781	DAW1	OMIM:620570
HP:0033353	Abnormal blood vessel morphology	9321	TRIP11	ORPHA:166272
HP:0033353	Abnormal blood vessel morphology	54809	SAMD9	OMIM:617053
HP:0033353	Abnormal blood vessel morphology	57003	CCDC47	OMIM:618268
HP:0033353	Abnormal blood vessel morphology	57061	HYMAI	ORPHA:96191
HP:0033353	Abnormal blood vessel morphology	5325	PLAGL1	ORPHA:96191
HP:0033353	Abnormal blood vessel morphology	64840	PORCN	ORPHA:2092
HP:0033353	Abnormal blood vessel morphology	348180	CTU2	OMIM:618142
HP:0033353	Abnormal blood vessel morphology	26005	C2CD3	ORPHA:434179
HP:0033353	Abnormal blood vessel morphology	26005	C2CD3	OMIM:615948
HP:0033353	Abnormal blood vessel morphology	3248	HPGD	OMIM:259100
HP:0033353	Abnormal blood vessel morphology	84172	POLR1B	ORPHA:861
HP:0033353	Abnormal blood vessel morphology	9533	POLR1C	ORPHA:861
HP:0033353	Abnormal blood vessel morphology	51082	POLR1D	ORPHA:861
HP:0033353	Abnormal blood vessel morphology	6949	TCOF1	ORPHA:861
HP:0033353	Abnormal blood vessel morphology	7204	TRIO	OMIM:617061
HP:0033353	Abnormal blood vessel morphology	2077	ERF	OMIM:617180
HP:0033353	Abnormal blood vessel morphology	374879	ZNF699	OMIM:619488
HP:0033353	Abnormal blood vessel morphology	4841	NONO	OMIM:300967
HP:0033353	Abnormal blood vessel morphology	4841	NONO	ORPHA:466791
HP:0033353	Abnormal blood vessel morphology	8239	USP9X	OMIM:300968
HP:0033353	Abnormal blood vessel morphology	8239	USP9X	ORPHA:480880
HP:0033353	Abnormal blood vessel morphology	28952	CCDC22	OMIM:300963
HP:0033353	Abnormal blood vessel morphology	6299	SALL1	ORPHA:857
HP:0033353	Abnormal blood vessel morphology	51339	DACT1	ORPHA:857
HP:0033353	Abnormal blood vessel morphology	118924	FRA10AC1	OMIM:620113
HP:0033353	Abnormal blood vessel morphology	60	ACTB	OMIM:620475
HP:0033353	Abnormal blood vessel morphology	60	ACTB	OMIM:243310
HP:0033353	Abnormal blood vessel morphology	745	MYRF	OMIM:618280
HP:0033353	Abnormal blood vessel morphology	55252	ASXL2	OMIM:617190
HP:0033353	Abnormal blood vessel morphology	23387	SIK3	OMIM:618162
HP:0033353	Abnormal blood vessel morphology	6748	SSR4	ORPHA:370927
HP:0033353	Abnormal blood vessel morphology	89970	RSPRY1	ORPHA:457395
HP:0033353	Abnormal blood vessel morphology	5557	PRIM1	OMIM:620005
HP:0033353	Abnormal blood vessel morphology	23522	KAT6B	ORPHA:3047
HP:0033353	Abnormal blood vessel morphology	27161	AGO2	OMIM:619149
HP:0033353	Abnormal blood vessel morphology	9652	SKIC3	ORPHA:84064
HP:0033353	Abnormal blood vessel morphology	6499	SKIC2	ORPHA:84064
HP:0033353	Abnormal blood vessel morphology	10262	SF3B4	OMIM:154400
HP:0033353	Abnormal blood vessel morphology	55503	TRPV6	OMIM:618188
HP:0033353	Abnormal blood vessel morphology	57539	WDR35	OMIM:613610
HP:0033353	Abnormal blood vessel morphology	8496	PPFIBP1	OMIM:620024
HP:0033353	Abnormal blood vessel morphology	51506	UFC1	OMIM:618076
HP:0033353	Abnormal blood vessel morphology	6812	STXBP1	ORPHA:495818
HP:0033353	Abnormal blood vessel morphology	55788	LMBRD1	OMIM:277380
HP:0033353	Abnormal blood vessel morphology	10225	CD96	OMIM:211750
HP:0033353	Abnormal blood vessel morphology	57492	ARID1B	OMIM:135900
HP:0033353	Abnormal blood vessel morphology	57492	ARID1B	ORPHA:1465
HP:0033353	Abnormal blood vessel morphology	1889	ECE1	OMIM:613870
HP:0033353	Abnormal blood vessel morphology	6597	SMARCA4	OMIM:614609
HP:0033353	Abnormal blood vessel morphology	6597	SMARCA4	ORPHA:1465
HP:0033353	Abnormal blood vessel morphology	132158	GLYCTK	OMIM:220120
HP:0033353	Abnormal blood vessel morphology	55148	UBR7	OMIM:619189
HP:0033353	Abnormal blood vessel morphology	51021	MRPS16	OMIM:610498
HP:0033353	Abnormal blood vessel morphology	657	BMPR1A	ORPHA:79076
HP:0033353	Abnormal blood vessel morphology	79053	ALG8	OMIM:608104
HP:0033353	Abnormal blood vessel morphology	26227	PHGDH	OMIM:256520
HP:0033353	Abnormal blood vessel morphology	54499	TMCO1	OMIM:213980
HP:0033353	Abnormal blood vessel morphology	23137	SMC5	OMIM:620185
HP:0033353	Abnormal blood vessel morphology	79228	THOC6	ORPHA:363444
HP:0033353	Abnormal blood vessel morphology	79228	THOC6	OMIM:613680
HP:0033353	Abnormal blood vessel morphology	4094	MAF	ORPHA:1272
HP:0033353	Abnormal blood vessel morphology	2697	GJA1	ORPHA:2248
HP:0033353	Abnormal blood vessel morphology	2255	FGF10	ORPHA:2363
HP:0033353	Abnormal blood vessel morphology	8813	DPM1	OMIM:608799
HP:0033353	Abnormal blood vessel morphology	170691	ADAMTS17	ORPHA:3449
HP:0033353	Abnormal blood vessel morphology	4053	LTBP2	ORPHA:3449
HP:0033353	Abnormal blood vessel morphology	2146	EZH2	OMIM:277590
HP:0033353	Abnormal blood vessel morphology	5824	PEX19	OMIM:614886
HP:0033353	Abnormal blood vessel morphology	8195	MKKS	ORPHA:2473
HP:0033353	Abnormal blood vessel morphology	157570	ESCO2	OMIM:268300
HP:0033353	Abnormal blood vessel morphology	2719	GPC3	OMIM:312870
HP:0033353	Abnormal blood vessel morphology	2239	GPC4	OMIM:312870
HP:0033353	Abnormal blood vessel morphology	11020	IFT27	OMIM:615996
HP:0033353	Abnormal blood vessel morphology	5648	MASP1	OMIM:257920
HP:0033353	Abnormal blood vessel morphology	85358	SHANK3	OMIM:606232
HP:0033353	Abnormal blood vessel morphology	1837	DTNA	OMIM:604169
HP:0033353	Abnormal blood vessel morphology	113179	ADAT3	ORPHA:363528
HP:0033353	Abnormal blood vessel morphology	998	CDC42	OMIM:616737
HP:0033353	Abnormal blood vessel morphology	998	CDC42	ORPHA:487796
HP:0033353	Abnormal blood vessel morphology	4297	KMT2A	OMIM:605130
HP:0033353	Abnormal blood vessel morphology	388753	COA6	OMIM:616501
HP:0033353	Abnormal blood vessel morphology	6598	SMARCB1	ORPHA:1465
HP:0033353	Abnormal blood vessel morphology	6659	SOX4	ORPHA:1465
HP:0033353	Abnormal blood vessel morphology	8289	ARID1A	ORPHA:1465
HP:0033353	Abnormal blood vessel morphology	5977	DPF2	ORPHA:1465
HP:0033353	Abnormal blood vessel morphology	6601	SMARCC2	ORPHA:1465
HP:0033353	Abnormal blood vessel morphology	6602	SMARCD1	ORPHA:1465
HP:0033353	Abnormal blood vessel morphology	196528	ARID2	ORPHA:1465
HP:0033353	Abnormal blood vessel morphology	6605	SMARCE1	ORPHA:1465
HP:0033353	Abnormal blood vessel morphology	6664	SOX11	ORPHA:1465
HP:0033353	Abnormal blood vessel morphology	51008	ASCC1	OMIM:616867
HP:0033353	Abnormal blood vessel morphology	9325	TRIP4	OMIM:616866
HP:0033353	Abnormal blood vessel morphology	57511	COG6	OMIM:614576
HP:0033353	Abnormal blood vessel morphology	80781	COL18A1	ORPHA:1571
HP:0033353	Abnormal blood vessel morphology	80781	COL18A1	OMIM:267750
HP:0033353	Abnormal blood vessel morphology	6638	SNRPN	ORPHA:177907
HP:0033353	Abnormal blood vessel morphology	59336	PRDM13	OMIM:619909
HP:0033353	Abnormal blood vessel morphology	6628	SNRPB	OMIM:117650
HP:0033353	Abnormal blood vessel morphology	23630	KCNE5	ORPHA:86818
HP:0033353	Abnormal blood vessel morphology	2182	ACSL4	ORPHA:86818
HP:0033353	Abnormal blood vessel morphology	1857	DVL3	OMIM:616894
HP:0033353	Abnormal blood vessel morphology	7291	TWIST1	OMIM:617746
HP:0033353	Abnormal blood vessel morphology	100506658	OCLN	OMIM:251290
HP:0033353	Abnormal blood vessel morphology	93649	MYOCD	OMIM:618719
HP:0033353	Abnormal blood vessel morphology	5331	PLCB3	OMIM:618961
HP:0033353	Abnormal blood vessel morphology	153241	CEP120	OMIM:616300
HP:0033353	Abnormal blood vessel morphology	5879	RAC1	OMIM:617751
HP:0033353	Abnormal blood vessel morphology	5879	RAC1	ORPHA:500159
HP:0033353	Abnormal blood vessel morphology	5718	PSMD12	OMIM:617516
HP:0033353	Abnormal blood vessel morphology	55191	NADSYN1	OMIM:618845
HP:0033353	Abnormal blood vessel morphology	9757	KMT2B	OMIM:619934
HP:0033353	Abnormal blood vessel morphology	84148	KAT8	OMIM:618974
HP:0033353	Abnormal blood vessel morphology	83871	RAB34	OMIM:620718
HP:0033353	Abnormal blood vessel morphology	54916	TMEM260	OMIM:617478
HP:0033353	Abnormal blood vessel morphology	284086	NEK8	OMIM:615415
HP:0033353	Abnormal blood vessel morphology	3708	ITPR1	OMIM:206700
HP:0033353	Abnormal blood vessel morphology	650	BMP2	OMIM:617877
HP:0033353	Abnormal blood vessel morphology	9487	PIGL	OMIM:280000
HP:0033353	Abnormal blood vessel morphology	9487	PIGL	ORPHA:3474
HP:0033353	Abnormal blood vessel morphology	93	ACVR2B	OMIM:613751
HP:0033353	Abnormal blood vessel morphology	490	ATP2B1	OMIM:619910
HP:0033353	Abnormal blood vessel morphology	23389	MED13L	OMIM:616789
HP:0033353	Abnormal blood vessel morphology	2218	FKTN	OMIM:253800
HP:0033353	Abnormal blood vessel morphology	118856	MMP21	OMIM:616749
HP:0033353	Abnormal blood vessel morphology	54870	QRICH1	OMIM:617982
HP:0033353	Abnormal blood vessel morphology	220136	CFAP53	OMIM:614779
HP:0033353	Abnormal blood vessel morphology	2783	GNB2	OMIM:619503
HP:0033353	Abnormal blood vessel morphology	55997	CFC1	OMIM:605376
HP:0033353	Abnormal blood vessel morphology	63036	CELA2A	OMIM:618620
HP:0033353	Abnormal blood vessel morphology	336	APOA2	OMIM:143890
HP:0033353	Abnormal blood vessel morphology	2053	EPHX2	OMIM:143890
HP:0033353	Abnormal blood vessel morphology	10842	PPP1R17	OMIM:143890
HP:0033353	Abnormal blood vessel morphology	2690	GHR	OMIM:143890
HP:0033353	Abnormal blood vessel morphology	79184	BRCC3	ORPHA:280679
HP:0033353	Abnormal blood vessel morphology	2099	ESR1	ORPHA:785
HP:0033353	Abnormal blood vessel morphology	57104	PNPLA2	ORPHA:565612
HP:0033353	Abnormal blood vessel morphology	64131	XYLT1	OMIM:264800
HP:0033353	Abnormal blood vessel morphology	64132	XYLT2	OMIM:264800
HP:0033353	Abnormal blood vessel morphology	57592	ZNF687	OMIM:616833
HP:0033353	Abnormal blood vessel morphology	6910	TBX5	ORPHA:392
HP:0033353	Abnormal blood vessel morphology	23556	PIGN	ORPHA:2059
HP:0033353	Abnormal blood vessel morphology	3423	IDS	ORPHA:217085
HP:0033353	Abnormal blood vessel morphology	3423	IDS	ORPHA:217093
HP:0033353	Abnormal blood vessel morphology	9759	HDAC4	ORPHA:1001
HP:0033353	Abnormal blood vessel morphology	2260	FGFR1	ORPHA:2396
HP:0033353	Abnormal blood vessel morphology	3845	KRAS	ORPHA:2396
HP:0033353	Abnormal blood vessel morphology	64359	NXN	ORPHA:1507
HP:0033353	Abnormal blood vessel morphology	4920	ROR2	ORPHA:1507
HP:0033353	Abnormal blood vessel morphology	2626	GATA4	ORPHA:251071
HP:0033353	Abnormal blood vessel morphology	9184	BUB3	ORPHA:1052
HP:0033353	Abnormal blood vessel morphology	699	BUB1	ORPHA:1052
HP:0033353	Abnormal blood vessel morphology	9702	CEP57	ORPHA:1052
HP:0033353	Abnormal blood vessel morphology	9319	TRIP13	ORPHA:1052
HP:0033353	Abnormal blood vessel morphology	701	BUB1B	ORPHA:1052
HP:0033353	Abnormal blood vessel morphology	2737	GLI3	ORPHA:672
HP:0033353	Abnormal blood vessel morphology	22827	PUF60	ORPHA:508498
HP:0033353	Abnormal blood vessel morphology	22827	PUF60	ORPHA:508488
HP:0033353	Abnormal blood vessel morphology	10128	LRPPRC	OMIM:220111
HP:0033353	Abnormal blood vessel morphology	2294	FOXF1	OMIM:265380
HP:0033353	Abnormal blood vessel morphology	8216	LZTR1	OMIM:616564
HP:0033353	Abnormal blood vessel morphology	8216	LZTR1	ORPHA:648
HP:0033353	Abnormal blood vessel morphology	8216	LZTR1	OMIM:605275
HP:0033353	Abnormal blood vessel morphology	123606	NIPA1	ORPHA:261183
HP:0033353	Abnormal blood vessel morphology	7283	TUBG1	ORPHA:261183
HP:0033353	Abnormal blood vessel morphology	81614	NIPA2	ORPHA:261183
HP:0033353	Abnormal blood vessel morphology	1024	CDK8	OMIM:618748
HP:0033353	Abnormal blood vessel morphology	100151683	RNU4ATAC	OMIM:210710
HP:0033353	Abnormal blood vessel morphology	132	ADK	OMIM:614300
HP:0033353	Abnormal blood vessel morphology	79903	NAA60	OMIM:620786
HP:0033353	Abnormal blood vessel morphology	2657	GDF1	OMIM:613854
HP:0033353	Abnormal blood vessel morphology	5927	KDM5A	OMIM:620820
HP:0033353	Abnormal blood vessel morphology	79813	EHMT1	ORPHA:96147
HP:0033353	Abnormal blood vessel morphology	10992	SF3B2	OMIM:164210
HP:0033353	Abnormal blood vessel morphology	4838	NODAL	OMIM:270100
HP:0033353	Abnormal blood vessel morphology	4838	NODAL	ORPHA:280195
HP:0033353	Abnormal blood vessel morphology	64220	STRA6	OMIM:601186
HP:0033353	Abnormal blood vessel morphology	6888	TALDO1	ORPHA:101028
HP:0033353	Abnormal blood vessel morphology	6888	TALDO1	OMIM:606003
HP:0033353	Abnormal blood vessel morphology	7707	ZNF148	OMIM:617260
HP:0033353	Abnormal blood vessel morphology	7490	WT1	ORPHA:3097
HP:0033353	Abnormal blood vessel morphology	7490	WT1	OMIM:608978
HP:0033353	Abnormal blood vessel morphology	10847	SRCAP	OMIM:136140
HP:0033353	Abnormal blood vessel morphology	10847	SRCAP	ORPHA:2044
HP:0033353	Abnormal blood vessel morphology	89910	UBE3B	OMIM:244450
HP:0033353	Abnormal blood vessel morphology	4893	NRAS	OMIM:613224
HP:0033353	Abnormal blood vessel morphology	4893	NRAS	OMIM:163200
HP:0033353	Abnormal blood vessel morphology	4893	NRAS	ORPHA:648
HP:0033353	Abnormal blood vessel morphology	55784	MCTP2	ORPHA:1596
HP:0033353	Abnormal blood vessel morphology	8085	KMT2D	ORPHA:2322
HP:0033353	Abnormal blood vessel morphology	8085	KMT2D	OMIM:147920
HP:0033353	Abnormal blood vessel morphology	7403	KDM6A	ORPHA:2322
HP:0033353	Abnormal blood vessel morphology	7403	KDM6A	OMIM:300867
HP:0033353	Abnormal blood vessel morphology	7403	KDM6A	OMIM:147920
HP:0033353	Abnormal blood vessel morphology	5053	PAH	ORPHA:2209
HP:0033353	Abnormal blood vessel morphology	7547	ZIC3	OMIM:306955
HP:0033353	Abnormal blood vessel morphology	10735	STAG2	OMIM:301022
HP:0033353	Abnormal blood vessel morphology	1956	EGFR	OMIM:616069
HP:0033353	Abnormal blood vessel morphology	146862	UNC45B	OMIM:619178
HP:0033353	Abnormal blood vessel morphology	9968	MED12	ORPHA:93932
HP:0033353	Abnormal blood vessel morphology	9968	MED12	OMIM:301068
HP:0033353	Abnormal blood vessel morphology	1108	CHD4	OMIM:617159
HP:0033353	Abnormal blood vessel morphology	7026	NR2F2	OMIM:615779
HP:0033353	Abnormal blood vessel morphology	51057	WDPCP	OMIM:217085
HP:0033353	Abnormal blood vessel morphology	1000	CDH2	OMIM:618929
HP:0033353	Abnormal blood vessel morphology	4313	MMP2	ORPHA:371428
HP:0033353	Abnormal blood vessel morphology	4323	MMP14	ORPHA:371428
HP:0033353	Abnormal blood vessel morphology	1717	DHCR7	OMIM:270400
HP:0033353	Abnormal blood vessel morphology	9839	ZEB2	ORPHA:261552
HP:0033353	Abnormal blood vessel morphology	9839	ZEB2	ORPHA:261537
HP:0033353	Abnormal blood vessel morphology	5745	PTH1R	ORPHA:50945
HP:0033353	Abnormal blood vessel morphology	4212	MEIS2	OMIM:600987
HP:0033353	Abnormal blood vessel morphology	8802	SUCLG1	ORPHA:17
HP:0033353	Abnormal blood vessel morphology	1822	ATN1	OMIM:618494
HP:0033353	Abnormal blood vessel morphology	25	ABL1	OMIM:617602
HP:0033353	Abnormal blood vessel morphology	139285	AMER1	ORPHA:2780
HP:0033353	Abnormal blood vessel morphology	55644	OSGEP	OMIM:617729
HP:0033353	Abnormal blood vessel morphology	5826	ABCD4	OMIM:614857
HP:0033353	Abnormal blood vessel morphology	8883	NAE1	OMIM:620210
HP:0033353	Abnormal blood vessel morphology	2313	FLI1	ORPHA:2308
HP:0033353	Abnormal blood vessel morphology	10664	CTCF	ORPHA:363611
HP:0033353	Abnormal blood vessel morphology	10664	CTCF	OMIM:615502
HP:0033353	Abnormal blood vessel morphology	65250	CPLANE1	OMIM:277170
HP:0033353	Abnormal blood vessel morphology	3265	HRAS	OMIM:163200
HP:0033353	Abnormal blood vessel morphology	83475	DOHH	OMIM:620066
HP:0033353	Abnormal blood vessel morphology	11198	SUPT16H	OMIM:619480
HP:0033353	Abnormal blood vessel morphology	28514	DLL1	ORPHA:280195
HP:0033353	Abnormal blood vessel morphology	2253	FGF8	ORPHA:280195
HP:0033353	Abnormal blood vessel morphology	6496	SIX3	ORPHA:280195
HP:0033353	Abnormal blood vessel morphology	7050	TGIF1	ORPHA:280195
HP:0033353	Abnormal blood vessel morphology	6469	SHH	ORPHA:280195
HP:0033353	Abnormal blood vessel morphology	7546	ZIC2	ORPHA:280195
HP:0033353	Abnormal blood vessel morphology	6491	STIL	ORPHA:280195
HP:0033353	Abnormal blood vessel morphology	2619	GAS1	ORPHA:280195
HP:0033353	Abnormal blood vessel morphology	84976	DISP1	ORPHA:280195
HP:0033353	Abnormal blood vessel morphology	2736	GLI2	ORPHA:280195
HP:0033353	Abnormal blood vessel morphology	8928	FOXH1	ORPHA:280195
HP:0033353	Abnormal blood vessel morphology	6997	CRIPTO	ORPHA:280195
HP:0033353	Abnormal blood vessel morphology	5727	PTCH1	ORPHA:280195
HP:0033353	Abnormal blood vessel morphology	50937	CDON	ORPHA:280195
HP:0033353	Abnormal blood vessel morphology	1654	DDX3X	ORPHA:3338
HP:0033353	Abnormal blood vessel morphology	57057	TBX20	OMIM:611363
HP:0033353	Abnormal blood vessel morphology	5500	PPP1CB	OMIM:617506
HP:0033353	Abnormal blood vessel morphology	182	JAG1	OMIM:118450
HP:0033353	Abnormal blood vessel morphology	4625	MYH7	OMIM:613426
HP:0033353	Abnormal blood vessel morphology	1482	NKX2-5	ORPHA:402075
HP:0033353	Abnormal blood vessel morphology	1482	NKX2-5	OMIM:217095
HP:0033353	Abnormal blood vessel morphology	140628	GATA5	ORPHA:402075
HP:0033353	Abnormal blood vessel morphology	2627	GATA6	OMIM:217095
HP:0033353	Abnormal blood vessel morphology	51322	WAC	ORPHA:284169
HP:0033353	Abnormal blood vessel morphology	84231	TRAF7	OMIM:618164
HP:0033353	Abnormal blood vessel morphology	23483	TGDS	OMIM:616145
HP:0033353	Abnormal blood vessel morphology	5236	PGM1	OMIM:614921
HP:0033353	Abnormal blood vessel morphology	22800	RRAS2	ORPHA:648
HP:0033353	Abnormal blood vessel morphology	867	CBL	ORPHA:648
HP:0033353	Abnormal blood vessel morphology	6016	RIT1	ORPHA:648
HP:0033353	Abnormal blood vessel morphology	6237	RRAS	ORPHA:648
HP:0033353	Abnormal blood vessel morphology	22808	MRAS	ORPHA:648
HP:0033353	Abnormal blood vessel morphology	200734	SPRED2	ORPHA:648
HP:0033353	Abnormal blood vessel morphology	6654	SOS1	ORPHA:648
HP:0033353	Abnormal blood vessel morphology	6655	SOS2	ORPHA:648
HP:0033353	Abnormal blood vessel morphology	6655	SOS2	OMIM:616559
HP:0033353	Abnormal blood vessel morphology	5922	RASA2	ORPHA:648
HP:0033353	Abnormal blood vessel morphology	9939	RBM8A	OMIM:274000
HP:0033353	Abnormal blood vessel morphology	6223	RPS19	OMIM:105650
HP:0033353	Abnormal blood vessel morphology	6223	RPS19	ORPHA:124
HP:0033353	Abnormal blood vessel morphology	6138	RPL15	ORPHA:124
HP:0033353	Abnormal blood vessel morphology	6224	RPS20	ORPHA:124
HP:0033353	Abnormal blood vessel morphology	6165	RPL35A	ORPHA:124
HP:0033353	Abnormal blood vessel morphology	6132	RPL8	ORPHA:124
HP:0033353	Abnormal blood vessel morphology	6232	RPS27	ORPHA:124
HP:0033353	Abnormal blood vessel morphology	55027	HEATR3	ORPHA:124
HP:0033353	Abnormal blood vessel morphology	6160	RPL31	ORPHA:124
HP:0033353	Abnormal blood vessel morphology	6201	RPS7	ORPHA:124
HP:0033353	Abnormal blood vessel morphology	6155	RPL27	ORPHA:124
HP:0033353	Abnormal blood vessel morphology	6234	RPS28	ORPHA:124
HP:0033353	Abnormal blood vessel morphology	6135	RPL11	ORPHA:124
HP:0033353	Abnormal blood vessel morphology	6229	RPS24	ORPHA:124
HP:0033353	Abnormal blood vessel morphology	6125	RPL5	ORPHA:124
HP:0033353	Abnormal blood vessel morphology	6204	RPS10	ORPHA:124
HP:0033353	Abnormal blood vessel morphology	2623	GATA1	ORPHA:124
HP:0033353	Abnormal blood vessel morphology	6133	RPL9	ORPHA:124
HP:0033353	Abnormal blood vessel morphology	6231	RPS26	ORPHA:124
HP:0033353	Abnormal blood vessel morphology	11224	RPL35	ORPHA:124
HP:0033353	Abnormal blood vessel morphology	6218	RPS17	ORPHA:124
HP:0033353	Abnormal blood vessel morphology	6154	RPL26	ORPHA:124
HP:0033353	Abnormal blood vessel morphology	6210	RPS15A	ORPHA:124
HP:0033353	Abnormal blood vessel morphology	90121	TSR2	ORPHA:124
HP:0033353	Abnormal blood vessel morphology	6141	RPL18	ORPHA:124
HP:0033353	Abnormal blood vessel morphology	6235	RPS29	ORPHA:124
HP:0033353	Abnormal blood vessel morphology	6595	SMARCA2	OMIM:601358
HP:0033353	Abnormal blood vessel morphology	51626	DYNC2LI1	OMIM:617088
HP:0033353	Abnormal blood vessel morphology	8295	TRRAP	OMIM:618454
HP:0033353	Abnormal blood vessel morphology	7543	ZFX	OMIM:301118
HP:0033353	Abnormal blood vessel morphology	2703	GJA8	OMIM:612474
HP:0033353	Abnormal blood vessel morphology	2702	GJA5	OMIM:612474
HP:0033353	Abnormal blood vessel morphology	4281	MID1	ORPHA:2745
HP:0033353	Abnormal blood vessel morphology	6736	SRY	ORPHA:1772
HP:0033353	Abnormal blood vessel morphology	100128908	CIROP	OMIM:619702
HP:0033353	Abnormal blood vessel morphology	5604	MAP2K1	OMIM:163950
HP:0033353	Abnormal blood vessel morphology	526	ATP6V1B2	ORPHA:79500
HP:0033353	Abnormal blood vessel morphology	285590	SH3PXD2B	OMIM:249420
HP:0033353	Abnormal blood vessel morphology	23007	PLCH1	OMIM:619895
HP:0033353	Abnormal blood vessel morphology	9451	EIF2AK3	ORPHA:1667
HP:0033353	Abnormal blood vessel morphology	9896	FIG4	ORPHA:3472
HP:0033353	Abnormal blood vessel morphology	55697	VAC14	ORPHA:3472
HP:0033353	Abnormal blood vessel morphology	55654	TMEM127	OMIM:171300
HP:0033353	Abnormal blood vessel morphology	4149	MAX	OMIM:171300
HP:0033353	Abnormal blood vessel morphology	5979	RET	OMIM:171300
HP:0033353	Abnormal blood vessel morphology	50628	GEMIN4	OMIM:617913
HP:0033353	Abnormal blood vessel morphology	5456	POU3F4	ORPHA:1435
HP:0033353	Abnormal blood vessel morphology	3569	IL6	OMIM:108010
HP:0033353	Abnormal blood vessel morphology	6575	SLC20A2	OMIM:213600
HP:0033353	Abnormal blood vessel morphology	5155	PDGFB	OMIM:213600
HP:0033353	Abnormal blood vessel morphology	1278	COL1A2	ORPHA:230851
HP:0033353	Abnormal blood vessel morphology	2332	FMR1	ORPHA:449291
HP:0033353	Abnormal blood vessel morphology	84665	MYPN	ORPHA:171881
HP:0033353	Abnormal blood vessel morphology	7169	TPM2	ORPHA:171881
HP:0033353	Abnormal blood vessel morphology	7170	TPM3	ORPHA:171881
HP:0033353	Abnormal blood vessel morphology	9469	CHST3	OMIM:245600
HP:0033353	Abnormal blood vessel morphology	26229	B3GAT3	OMIM:245600
HP:0033353	Abnormal blood vessel morphology	4883	NPR3	OMIM:619543
HP:0033353	Abnormal blood vessel morphology	79576	NKAP	OMIM:301039
HP:0033353	Abnormal blood vessel morphology	833	CARS1	OMIM:618891
HP:0033353	Abnormal blood vessel morphology	54538	ROBO4	OMIM:618496
HP:0033353	Abnormal blood vessel morphology	4088	SMAD3	ORPHA:284984
HP:0033353	Abnormal blood vessel morphology	4088	SMAD3	ORPHA:60030
HP:0033353	Abnormal blood vessel morphology	538	ATP7A	ORPHA:198
HP:0033353	Abnormal blood vessel morphology	538	ATP7A	ORPHA:565
HP:0033353	Abnormal blood vessel morphology	1281	COL3A1	OMIM:618343
HP:0033353	Abnormal blood vessel morphology	1281	COL3A1	ORPHA:286
HP:0033353	Abnormal blood vessel morphology	8425	LTBP4	OMIM:613177
HP:0033353	Abnormal blood vessel morphology	81031	SLC2A10	ORPHA:3342
HP:0033353	Abnormal blood vessel morphology	57167	SALL4	OMIM:607323
HP:0033353	Abnormal blood vessel morphology	5781	PTPN11	ORPHA:500
HP:0033353	Abnormal blood vessel morphology	673	BRAF	ORPHA:500
HP:0033353	Abnormal blood vessel morphology	5894	RAF1	ORPHA:500
HP:0033353	Abnormal blood vessel morphology	91147	TMEM67	OMIM:216360
HP:0033353	Abnormal blood vessel morphology	197131	UBR1	OMIM:243800
HP:0033353	Abnormal blood vessel morphology	11231	SEC63	ORPHA:2924
HP:0033353	Abnormal blood vessel morphology	5589	PRKCSH	ORPHA:2924
HP:0033353	Abnormal blood vessel morphology	4041	LRP5	ORPHA:2924
HP:0033353	Abnormal blood vessel morphology	8481	OFD1	OMIM:311200
HP:0033353	Abnormal blood vessel morphology	8481	OFD1	ORPHA:2750
HP:0033353	Abnormal blood vessel morphology	5573	PRKAR1A	ORPHA:615
HP:0033353	Abnormal blood vessel morphology	6774	STAT3	ORPHA:2314
HP:0033353	Abnormal blood vessel morphology	5116	PCNT	ORPHA:2637
HP:0033353	Abnormal blood vessel morphology	4052	LTBP1	ORPHA:90349
HP:0033353	Abnormal blood vessel morphology	30008	EFEMP2	ORPHA:90349
HP:0033353	Abnormal blood vessel morphology	10516	FBLN5	ORPHA:90349
HP:0033353	Abnormal blood vessel morphology	57728	WDR19	OMIM:616307
HP:0033353	Abnormal blood vessel morphology	5921	RASA1	ORPHA:90307
HP:0033353	Abnormal blood vessel morphology	59	ACTA2	OMIM:613834
HP:0033353	Abnormal blood vessel morphology	3593	IL12B	ORPHA:3287
HP:0033353	Abnormal blood vessel morphology	3106	HLA-B	ORPHA:3287
HP:0033353	Abnormal blood vessel morphology	6945	MLX	ORPHA:3287
HP:0033353	Abnormal blood vessel morphology	3110	MNX1	OMIM:176450
HP:0033353	Abnormal blood vessel morphology	5351	PLOD1	ORPHA:1900
HP:0033353	Abnormal blood vessel morphology	286204	CRB2	OMIM:219730
HP:0033353	Abnormal blood vessel morphology	54903	MKS1	OMIM:249000
HP:0033353	Abnormal blood vessel morphology	5087	PBX1	OMIM:617641
HP:0033353	Abnormal blood vessel morphology	7046	TGFBR1	ORPHA:60030
HP:0033353	Abnormal blood vessel morphology	10526	IPO8	ORPHA:60030
HP:0033353	Abnormal blood vessel morphology	7048	TGFBR2	ORPHA:60030
HP:0033353	Abnormal blood vessel morphology	7042	TGFB2	ORPHA:60030
HP:0033353	Abnormal blood vessel morphology	7043	TGFB3	ORPHA:60030
HP:0033353	Abnormal blood vessel morphology	4087	SMAD2	ORPHA:60030
HP:0033353	Abnormal blood vessel morphology	51025	PAM16	OMIM:613320
HP:0033353	Abnormal blood vessel morphology	6663	SOX10	OMIM:611584
HP:0033353	Abnormal blood vessel morphology	284119	CAVIN1	OMIM:613327
HP:0033353	Abnormal blood vessel morphology	4878	NPPA	OMIM:615745
HP:0033353	Abnormal blood vessel morphology	2050	EPHB4	ORPHA:1053
HP:0033353	Abnormal blood vessel morphology	5193	PEX12	OMIM:614859
HP:0033353	Abnormal blood vessel morphology	7428	VHL	OMIM:263400
HP:0033353	Abnormal blood vessel morphology	9158	FIBP	ORPHA:500095
HP:0033353	Abnormal blood vessel morphology	9158	FIBP	OMIM:617107
HP:0033353	Abnormal blood vessel morphology	2303	FOXC2	ORPHA:33001
HP:0033353	Abnormal blood vessel morphology	2303	FOXC2	OMIM:153400
HP:0033353	Abnormal blood vessel morphology	1312	COMT	ORPHA:567
HP:0033353	Abnormal blood vessel morphology	221037	JMJD1C	ORPHA:567
HP:0033353	Abnormal blood vessel morphology	2812	GP1BB	ORPHA:567
HP:0033353	Abnormal blood vessel morphology	6239	RREB1	ORPHA:567
HP:0033353	Abnormal blood vessel morphology	7290	HIRA	ORPHA:567
HP:0033353	Abnormal blood vessel morphology	9632	SEC24C	ORPHA:567
HP:0033353	Abnormal blood vessel morphology	7353	UFD1	ORPHA:567
HP:0033353	Abnormal blood vessel morphology	421	ARVCF	ORPHA:567
HP:0033353	Abnormal blood vessel morphology	55315	SLC29A3	OMIM:602782
HP:0033353	Abnormal blood vessel morphology	55315	SLC29A3	ORPHA:168569
HP:0033353	Abnormal blood vessel morphology	3798	KIF5A	ORPHA:100991
HP:0033353	Abnormal blood vessel morphology	1188	CLCNKB	ORPHA:358
HP:0033353	Abnormal blood vessel morphology	6559	SLC12A3	ORPHA:358
HP:0033353	Abnormal blood vessel morphology	19	ABCA1	OMIM:205400
HP:0033353	Abnormal blood vessel morphology	19	ABCA1	ORPHA:425
HP:0033353	Abnormal blood vessel morphology	7840	ALMS1	OMIM:203800
HP:0033353	Abnormal blood vessel morphology	7486	WRN	ORPHA:902
HP:0033353	Abnormal blood vessel morphology	189	AGXT	ORPHA:93598
HP:0033353	Abnormal blood vessel morphology	3931	LCAT	ORPHA:79292
HP:0033353	Abnormal blood vessel morphology	91754	NEK9	OMIM:617022
HP:0033353	Abnormal blood vessel morphology	23395	LARS2	OMIM:617021
HP:0033353	Abnormal blood vessel morphology	54539	NDUFB11	OMIM:309801
HP:0033353	Abnormal blood vessel morphology	1349	COX7B	OMIM:309801
HP:0033353	Abnormal blood vessel morphology	3052	HCCS	OMIM:309801
HP:0033353	Abnormal blood vessel morphology	55636	CHD7	OMIM:214800
HP:0033353	Abnormal blood vessel morphology	2263	FGFR2	OMIM:101200
HP:0033353	Abnormal blood vessel morphology	5290	PIK3CA	ORPHA:276280
HP:0033353	Abnormal blood vessel morphology	2324	FLT4	ORPHA:79452
HP:0033353	Abnormal blood vessel morphology	9780	PIEZO1	ORPHA:79452
HP:0033353	Abnormal blood vessel morphology	285	ANGPT2	ORPHA:79452
HP:0033353	Abnormal blood vessel morphology	57165	GJC2	ORPHA:79452
HP:0033353	Abnormal blood vessel morphology	26191	PTPN22	ORPHA:397
HP:0033353	Abnormal blood vessel morphology	26191	PTPN22	ORPHA:900
HP:0033353	Abnormal blood vessel morphology	26191	PTPN22	OMIM:180300
HP:0033353	Abnormal blood vessel morphology	3123	HLA-DRB1	ORPHA:397
HP:0033353	Abnormal blood vessel morphology	8974	P4HA2	ORPHA:397
HP:0033353	Abnormal blood vessel morphology	355	FAS	ORPHA:3261
HP:0033353	Abnormal blood vessel morphology	355	FAS	OMIM:601859
HP:0033353	Abnormal blood vessel morphology	355	FAS	ORPHA:117
HP:0033353	Abnormal blood vessel morphology	356	FASLG	ORPHA:3261
HP:0033353	Abnormal blood vessel morphology	356	FASLG	OMIM:601859
HP:0033353	Abnormal blood vessel morphology	843	CASP10	ORPHA:3261
HP:0033353	Abnormal blood vessel morphology	843	CASP10	OMIM:603909
HP:0033353	Abnormal blood vessel morphology	90268	OTULIN	OMIM:617099
HP:0033353	Abnormal blood vessel morphology	720	C4A	OMIM:614380
HP:0033353	Abnormal blood vessel morphology	720	C4A	ORPHA:117
HP:0033353	Abnormal blood vessel morphology	114548	NLRP3	OMIM:191900
HP:0033353	Abnormal blood vessel morphology	114548	NLRP3	ORPHA:575
HP:0033353	Abnormal blood vessel morphology	7454	WAS	ORPHA:906
HP:0033353	Abnormal blood vessel morphology	7456	WIPF1	ORPHA:906
HP:0033353	Abnormal blood vessel morphology	3426	CFI	OMIM:610984
HP:0033353	Abnormal blood vessel morphology	1493	CTLA4	ORPHA:900
HP:0033353	Abnormal blood vessel morphology	3115	HLA-DPB1	ORPHA:900
HP:0033353	Abnormal blood vessel morphology	5657	PRTN3	ORPHA:900
HP:0033353	Abnormal blood vessel morphology	3113	HLA-DPA1	ORPHA:900
HP:0033353	Abnormal blood vessel morphology	4598	MVK	ORPHA:343
HP:0033353	Abnormal blood vessel morphology	4210	MEFV	ORPHA:342
HP:0033353	Abnormal blood vessel morphology	4210	MEFV	ORPHA:117
HP:0033353	Abnormal blood vessel morphology	9051	PSTPIP1	OMIM:601979
HP:0033353	Abnormal blood vessel morphology	11277	TREX1	OMIM:225750
HP:0033353	Abnormal blood vessel morphology	51816	ADA2	OMIM:615688
HP:0033353	Abnormal blood vessel morphology	64135	IFIH1	OMIM:615846
HP:0033353	Abnormal blood vessel morphology	7132	TNFRSF1A	ORPHA:32960
HP:0033353	Abnormal blood vessel morphology	4068	SH2D1A	OMIM:308240
HP:0033353	Abnormal blood vessel morphology	331	XIAP	OMIM:308240
HP:0033353	Abnormal blood vessel morphology	6335	SCN9A	ORPHA:90026
HP:0033353	Abnormal blood vessel morphology	11280	SCN11A	ORPHA:90026
HP:0033353	Abnormal blood vessel morphology	6336	SCN10A	ORPHA:90026
HP:0033353	Abnormal blood vessel morphology	10095	ARPC1B	OMIM:617718
HP:0033353	Abnormal blood vessel morphology	3586	IL10	OMIM:180300
HP:0033353	Abnormal blood vessel morphology	3586	IL10	ORPHA:117
HP:0033353	Abnormal blood vessel morphology	6583	SLC22A4	OMIM:180300
HP:0033353	Abnormal blood vessel morphology	4261	CIITA	OMIM:180300
HP:0033353	Abnormal blood vessel morphology	51744	CD244	OMIM:180300
HP:0033353	Abnormal blood vessel morphology	4795	NFKBIL1	OMIM:180300
HP:0033353	Abnormal blood vessel morphology	29110	TBK1	OMIM:620880
HP:0033353	Abnormal blood vessel morphology	4615	MYD88	ORPHA:33226
HP:0033353	Abnormal blood vessel morphology	23495	TNFRSF13B	ORPHA:1572
HP:0033353	Abnormal blood vessel morphology	4790	NFKB1	ORPHA:1572
HP:0033353	Abnormal blood vessel morphology	4791	NFKB2	ORPHA:1572
HP:0033353	Abnormal blood vessel morphology	115650	TNFRSF13C	ORPHA:1572
HP:0033353	Abnormal blood vessel morphology	1380	CR2	ORPHA:1572
HP:0033353	Abnormal blood vessel morphology	8742	TNFSF12	ORPHA:1572
HP:0033353	Abnormal blood vessel morphology	930	CD19	ORPHA:1572
HP:0033353	Abnormal blood vessel morphology	29851	ICOS	ORPHA:1572
HP:0033353	Abnormal blood vessel morphology	931	MS4A1	ORPHA:1572
HP:0033353	Abnormal blood vessel morphology	975	CD81	ORPHA:1572
HP:0033353	Abnormal blood vessel morphology	359948	IRF2BP2	ORPHA:1572
HP:0033353	Abnormal blood vessel morphology	54	ACP5	ORPHA:1855
HP:0033353	Abnormal blood vessel morphology	149233	IL23R	ORPHA:117
HP:0033353	Abnormal blood vessel morphology	6775	STAT4	ORPHA:117
HP:0033353	Abnormal blood vessel morphology	1230	CCR1	ORPHA:117
HP:0033353	Abnormal blood vessel morphology	3592	IL12A	ORPHA:117
HP:0033353	Abnormal blood vessel morphology	101928376	IL12A-AS1	ORPHA:117
HP:0033353	Abnormal blood vessel morphology	7099	TLR4	ORPHA:117
HP:0033353	Abnormal blood vessel morphology	3459	IFNGR1	ORPHA:117
HP:0033353	Abnormal blood vessel morphology	337867	UBAC2	ORPHA:117
HP:0033353	Abnormal blood vessel morphology	51752	ERAP1	ORPHA:117
HP:0033353	Abnormal blood vessel morphology	8302	KLRC4	ORPHA:117
HP:0033353	Abnormal blood vessel morphology	5654	HTRA1	ORPHA:199354
HP:0033353	Abnormal blood vessel morphology	2068	ERCC2	ORPHA:220295
HP:0033353	Abnormal blood vessel morphology	2073	ERCC5	ORPHA:220295
HP:0033353	Abnormal blood vessel morphology	2071	ERCC3	ORPHA:220295
HP:0033353	Abnormal blood vessel morphology	847	CAT	ORPHA:926
HP:0033353	Abnormal blood vessel morphology	50485	SMARCAL1	OMIM:242900
HP:0033353	Abnormal blood vessel morphology	3988	LIPA	ORPHA:75234
HP:0033353	Abnormal blood vessel morphology	4907	NT5E	ORPHA:289601
HP:0033353	Abnormal blood vessel morphology	368	ABCC6	OMIM:614473
HP:0033353	Abnormal blood vessel morphology	368	ABCC6	ORPHA:51608
HP:0033353	Abnormal blood vessel morphology	5167	ENPP1	ORPHA:51608
HP:0033353	Abnormal blood vessel morphology	6309	SC5D	OMIM:607330
HP:0033353	Abnormal blood vessel morphology	10577	NPC2	OMIM:607625
HP:0033353	Abnormal blood vessel morphology	5294	PIK3CG	OMIM:619802
HP:0033353	Abnormal blood vessel morphology	1439	CSF2RB	ORPHA:264675
HP:0033353	Abnormal blood vessel morphology	1438	CSF2RA	ORPHA:264675
HP:0033353	Abnormal blood vessel morphology	4864	NPC1	OMIM:257220
HP:0033353	Abnormal blood vessel morphology	1272	CNTN1	OMIM:612540
HP:0033353	Abnormal blood vessel morphology	10082	GPC6	OMIM:258315
HP:0033353	Abnormal blood vessel morphology	9681	DEPDC5	OMIM:620504
HP:0033353	Abnormal blood vessel morphology	64919	BCL11B	OMIM:617237
HP:0033353	Abnormal blood vessel morphology	54361	WNT4	OMIM:611812
HP:0033353	Abnormal blood vessel morphology	10312	TCIRG1	ORPHA:667
HP:0033353	Abnormal blood vessel morphology	1186	CLCN7	ORPHA:667
HP:0033353	Abnormal blood vessel morphology	29887	SNX10	ORPHA:667
HP:0033353	Abnormal blood vessel morphology	8600	TNFSF11	ORPHA:667
HP:0033353	Abnormal blood vessel morphology	5422	POLA1	OMIM:301030
HP:0033353	Abnormal blood vessel morphology	4256	MGP	ORPHA:85202
HP:0033353	Abnormal blood vessel morphology	92002	CCNQ	ORPHA:140952
HP:0033353	Abnormal blood vessel morphology	1593	CYP27A1	ORPHA:909
HP:0033353	Abnormal blood vessel morphology	7148	TNXB	ORPHA:230839
HP:0033353	Abnormal blood vessel morphology	116519	APOA5	OMIM:145750
HP:0033353	Abnormal blood vessel morphology	4023	LPL	OMIM:238600
HP:0033353	Abnormal blood vessel morphology	3053	SERPIND1	OMIM:612356
HP:0033353	Abnormal blood vessel morphology	171019	ADAMTS19	OMIM:620067
HP:0033353	Abnormal blood vessel morphology	7092	TLL1	ORPHA:99106
HP:0033353	Abnormal blood vessel morphology	11117	EMILIN1	OMIM:620080
HP:0033353	Abnormal blood vessel morphology	1161	ERCC8	ORPHA:90324
HP:0033353	Abnormal blood vessel morphology	2074	ERCC6	ORPHA:90324
HP:0033353	Abnormal blood vessel morphology	2591	GALNT3	OMIM:211900
HP:0033353	Abnormal blood vessel morphology	2629	GBA1	OMIM:231000
HP:0033353	Abnormal blood vessel morphology	78987	CRELD1	OMIM:606217
HP:0033353	Abnormal blood vessel morphology	23476	BRD4	OMIM:620568
HP:0033353	Abnormal blood vessel morphology	8772	FADD	OMIM:613759
HP:0033353	Abnormal blood vessel morphology	8772	FADD	ORPHA:306550
HP:0033353	Abnormal blood vessel morphology	55593	OTUD5	OMIM:301056
HP:0033353	Abnormal blood vessel morphology	54487	DGCR8	OMIM:192430
HP:0033353	Abnormal blood vessel morphology	8214	DGCR6	OMIM:192430
HP:0033353	Abnormal blood vessel morphology	8220	ESS2	OMIM:192430
HP:0033353	Abnormal blood vessel morphology	9993	DGCR2	OMIM:192430
HP:0033353	Abnormal blood vessel morphology	351	APP	OMIM:605714
HP:0033353	Abnormal blood vessel morphology	26834	RNU4-2	OMIM:620851
HP:0033353	Abnormal blood vessel morphology	375	ARF1	ORPHA:98892
HP:0033353	Abnormal blood vessel morphology	4131	MAP1B	ORPHA:98892
HP:0033353	Abnormal blood vessel morphology	2316	FLNA	ORPHA:98892
HP:0033353	Abnormal blood vessel morphology	23327	NEDD4L	ORPHA:98892
HP:0033353	Abnormal blood vessel morphology	160418	TMTC3	ORPHA:98892
HP:0033353	Abnormal blood vessel morphology	10564	ARFGEF2	ORPHA:98892
HP:0033353	Abnormal blood vessel morphology	55780	ERMARD	ORPHA:98892
HP:0033353	Abnormal blood vessel morphology	23118	TAB2	OMIM:614980
HP:0033353	Abnormal blood vessel morphology	6711	SPTBN1	OMIM:619475
HP:0033353	Abnormal blood vessel morphology	29957	SLC25A24	OMIM:612289
HP:0033353	Abnormal blood vessel morphology	4091	SMAD6	OMIM:614823
HP:0033353	Abnormal blood vessel morphology	3081	HGD	OMIM:203500
HP:0033353	Abnormal blood vessel morphology	3081	HGD	ORPHA:56
HP:0033353	Abnormal blood vessel morphology	64324	NSD1	ORPHA:821
HP:0033353	Abnormal blood vessel morphology	10297	APC2	ORPHA:821
HP:0033353	Abnormal blood vessel morphology	3190	HNRNPK	ORPHA:453504
HP:0033353	Abnormal blood vessel morphology	3190	HNRNPK	ORPHA:352665
HP:0033353	Abnormal blood vessel morphology	51611	DPH5	OMIM:620070
HP:0033353	Abnormal blood vessel morphology	10743	RAI1	ORPHA:477817
HP:0033353	Abnormal blood vessel morphology	284058	KANSL1	ORPHA:363965
HP:0033353	Abnormal blood vessel morphology	284058	KANSL1	ORPHA:363958
HP:0033353	Abnormal blood vessel morphology	54453	RIN2	ORPHA:217335
HP:0033353	Abnormal blood vessel morphology	54453	RIN2	OMIM:613075
HP:0033353	Abnormal blood vessel morphology	4854	NOTCH3	OMIM:130720
HP:0033353	Abnormal blood vessel morphology	613	BCR	ORPHA:261330
HP:0033353	Abnormal blood vessel morphology	1399	CRKL	ORPHA:261330
HP:0033353	Abnormal blood vessel morphology	5594	MAPK1	ORPHA:261330
HP:0033353	Abnormal blood vessel morphology	4638	MYLK	OMIM:613780
HP:0033353	Abnormal blood vessel morphology	2301	FOXE3	OMIM:617349
HP:0033353	Abnormal blood vessel morphology	1277	COL1A1	OMIM:166200
HP:0033353	Abnormal blood vessel morphology	113246	C12orf57	OMIM:218340
HP:0033353	Abnormal blood vessel morphology	6497	SKI	OMIM:182212
HP:0033353	Abnormal blood vessel morphology	25885	POLR1A	OMIM:616462
HP:0033353	Abnormal blood vessel morphology	80204	FBXO11	OMIM:618089
HP:0033353	Abnormal blood vessel morphology	2006	ELN	ORPHA:90348
HP:0033353	Abnormal blood vessel morphology	5832	ALDH18A1	ORPHA:90348
HP:0033353	Abnormal blood vessel morphology	3458	IFNG	ORPHA:805
HP:0033353	Abnormal blood vessel morphology	7248	TSC1	ORPHA:805
HP:0033353	Abnormal blood vessel morphology	7249	TSC2	ORPHA:805
HP:0033353	Abnormal blood vessel morphology	7139	TNNT2	OMIM:612422
HP:0033353	Abnormal blood vessel morphology	4621	MYH3	ORPHA:2990
HP:0033353	Abnormal blood vessel morphology	1146	CHRNG	ORPHA:2990
HP:0033353	Abnormal blood vessel morphology	64127	NOD2	ORPHA:90340
HP:0033353	Abnormal blood vessel morphology	2317	FLNB	OMIM:150250
HP:0033353	Abnormal blood vessel morphology	2200	FBN1	OMIM:604308
HP:0033353	Abnormal blood vessel morphology	10535	RNASEH2A	ORPHA:51
HP:0033353	Abnormal blood vessel morphology	84153	RNASEH2C	ORPHA:51
HP:0033353	Abnormal blood vessel morphology	25939	SAMHD1	ORPHA:51
HP:0033353	Abnormal blood vessel morphology	79621	RNASEH2B	ORPHA:51
HP:0033353	Abnormal blood vessel morphology	103	ADAR	ORPHA:51
HP:0033353	Abnormal blood vessel morphology	100147744	RNU7-1	ORPHA:51
HP:0033353	Abnormal blood vessel morphology	134353	LSM11	ORPHA:51
HP:0033353	Abnormal blood vessel morphology	6874	TAF4	OMIM:620450
HP:0033353	Abnormal blood vessel morphology	2201	FBN2	ORPHA:115
HP:0033353	Abnormal blood vessel morphology	6772	STAT1	ORPHA:391487
HP:0033353	Abnormal blood vessel morphology	2548	GAA	OMIM:232300
HP:0033353	Abnormal blood vessel morphology	1282	COL4A1	OMIM:611773
HP:0033353	Abnormal blood vessel morphology	4629	MYH11	ORPHA:229
HP:0033353	Abnormal blood vessel morphology	4629	MYH11	ORPHA:91387
HP:0033353	Abnormal blood vessel morphology	10056	FARSB	OMIM:613658
HP:0033353	Abnormal blood vessel morphology	4796	TONSL	ORPHA:93357
HP:0033353	Abnormal blood vessel morphology	2677	GGCX	ORPHA:91135
HP:0033353	Abnormal blood vessel morphology	1289	COL5A1	ORPHA:287
HP:0033353	Abnormal blood vessel morphology	1289	COL5A1	OMIM:619329
HP:0033353	Abnormal blood vessel morphology	1290	COL5A2	ORPHA:287
HP:0033353	Abnormal blood vessel morphology	633	BGN	OMIM:300989
HP:0033353	Abnormal blood vessel morphology	8985	PLOD3	OMIM:612394
HP:0033353	Abnormal blood vessel morphology	335	APOA1	OMIM:620657
HP:0033353	Abnormal blood vessel morphology	4763	NF1	ORPHA:97685
HP:0033353	Abnormal blood vessel morphology	4015	LOX	ORPHA:91387
HP:0033353	Abnormal blood vessel morphology	5592	PRKG1	ORPHA:91387
HP:0033353	Abnormal blood vessel morphology	4144	MAT2A	ORPHA:91387
HP:0033353	Abnormal blood vessel morphology	23493	HEY2	ORPHA:91387
HP:0033353	Abnormal blood vessel morphology	8076	MFAP5	ORPHA:91387
HP:0033353	Abnormal blood vessel morphology	79875	THSD4	ORPHA:91387
HP:0033353	Abnormal blood vessel morphology	50940	PDE11A	ORPHA:1359
HP:0033353	Abnormal blood vessel morphology	5831	PYCR1	OMIM:612940
HP:0033353	Abnormal blood vessel morphology	3417	IDH1	ORPHA:99646
HP:0033353	Abnormal blood vessel morphology	4352	MPL	ORPHA:71493
HP:0033353	Abnormal blood vessel morphology	7066	THPO	ORPHA:71493
HP:0033353	Abnormal blood vessel morphology	3717	JAK2	ORPHA:71493
HP:0033353	Abnormal blood vessel morphology	10491	CRTAP	OMIM:610682
HP:0033353	Abnormal blood vessel morphology	55181	SMG8	OMIM:619268
HP:0033353	Abnormal blood vessel morphology	3949	LDLR	ORPHA:391665
HP:0033353	Abnormal blood vessel morphology	255738	PCSK9	ORPHA:391665
HP:0033353	Abnormal blood vessel morphology	26119	LDLRAP1	ORPHA:391665
HP:0033353	Abnormal blood vessel morphology	338	APOB	ORPHA:391665
HP:0033353	Abnormal blood vessel morphology	64240	ABCG5	ORPHA:391665
HP:0033353	Abnormal blood vessel morphology	64241	ABCG8	ORPHA:391665
HP:0033353	Abnormal blood vessel morphology	10568	SLC34A2	ORPHA:60025
HP:0033353	Abnormal blood vessel morphology	3977	LIFR	OMIM:601559
HP:0033353	Abnormal blood vessel morphology	57551	TAOK1	OMIM:619575
HP:0033353	Abnormal blood vessel morphology	84720	PIGO	OMIM:614749
HP:0033353	Abnormal blood vessel morphology	112752	IFT43	OMIM:614099
HP:0033353	Abnormal blood vessel morphology	2972	BRF1	ORPHA:444072
HP:0033353	Abnormal blood vessel morphology	10293	TRAIP	OMIM:616777
HP:0033353	Abnormal blood vessel morphology	10157	AASS	ORPHA:2203
HP:0033353	Abnormal blood vessel morphology	286053	NSMCE2	OMIM:617253
HP:0033353	Abnormal blood vessel morphology	9149	DYRK1B	OMIM:615812
HP:0033353	Abnormal blood vessel morphology	3990	LIPC	ORPHA:140905
HP:0033353	Abnormal blood vessel morphology	84984	CEP19	OMIM:615703
HP:0033353	Abnormal blood vessel morphology	338328	GPIHBP1	OMIM:615947
HP:0033353	Abnormal blood vessel morphology	4205	MEF2A	OMIM:608320
HP:0033353	Abnormal blood vessel morphology	4040	LRP6	OMIM:610947
HP:0033353	Abnormal blood vessel morphology	3198	HOXA1	OMIM:601536
HP:0033353	Abnormal blood vessel morphology	7058	THBS2	OMIM:620865
HP:0033353	Abnormal blood vessel morphology	55109	AGGF1	ORPHA:90308
HP:0033353	Abnormal blood vessel morphology	4693	NDP	ORPHA:649
HP:0033353	Abnormal blood vessel morphology	5627	PROS1	ORPHA:743
HP:0033353	Abnormal blood vessel morphology	5624	PROC	ORPHA:745
HP:0033353	Abnormal blood vessel morphology	64093	SMOC1	ORPHA:1106
HP:0033353	Abnormal blood vessel morphology	128	ADH5	OMIM:619151
HP:0033353	Abnormal blood vessel morphology	79645	CLXN	OMIM:620642
HP:0033353	Abnormal blood vessel morphology	7386	UQCRFS1	OMIM:618775
HP:0033353	Abnormal blood vessel morphology	8241	RBM10	ORPHA:2886
HP:0033353	Abnormal blood vessel morphology	7703	PCGF2	OMIM:618371
HP:0033353	Abnormal blood vessel morphology	340419	RSPO2	OMIM:618021
HP:0033353	Abnormal blood vessel morphology	55901	THSD1	OMIM:618734
HP:0033353	Abnormal blood vessel morphology	4860	PNP	OMIM:613179
HP:0033353	Abnormal blood vessel morphology	81704	DOCK8	OMIM:243700
HP:0033353	Abnormal blood vessel morphology	10621	POLR3F	OMIM:619872
HP:0033353	Abnormal blood vessel morphology	6804	STX1A	ORPHA:904
HP:0033353	Abnormal blood vessel morphology	7461	CLIP2	ORPHA:904
HP:0033353	Abnormal blood vessel morphology	84277	DNAJC30	ORPHA:904
HP:0033353	Abnormal blood vessel morphology	8468	FKBP6	ORPHA:904
HP:0033353	Abnormal blood vessel morphology	5982	RFC2	ORPHA:904
HP:0033353	Abnormal blood vessel morphology	2969	GTF2I	ORPHA:904
HP:0033353	Abnormal blood vessel morphology	3984	LIMK1	ORPHA:904
HP:0033353	Abnormal blood vessel morphology	9569	GTF2IRD1	ORPHA:904
HP:0033353	Abnormal blood vessel morphology	155382	VPS37D	ORPHA:904
HP:0033353	Abnormal blood vessel morphology	155368	METTL27	ORPHA:904
HP:0033353	Abnormal blood vessel morphology	114049	BUD23	ORPHA:904
HP:0033353	Abnormal blood vessel morphology	7458	EIF4H	ORPHA:904
HP:0033353	Abnormal blood vessel morphology	84163	GTF2IRD2	ORPHA:904
HP:0033353	Abnormal blood vessel morphology	26608	TBL2	ORPHA:904
HP:0033353	Abnormal blood vessel morphology	653361	NCF1	ORPHA:904
HP:0033353	Abnormal blood vessel morphology	135886	TMEM270	ORPHA:904
HP:0033353	Abnormal blood vessel morphology	9031	BAZ1B	ORPHA:904
HP:0033353	Abnormal blood vessel morphology	7319	UBE2A	ORPHA:163956
HP:0033353	Abnormal blood vessel morphology	10283	CWC27	ORPHA:166035
HP:0033353	Abnormal blood vessel morphology	5318	PKP2	OMIM:609040
HP:0033353	Abnormal blood vessel morphology	54820	NDE1	ORPHA:2177
HP:0033353	Abnormal blood vessel morphology	29925	GMPPB	ORPHA:363623
HP:0033353	Abnormal blood vessel morphology	6134	RPL10	ORPHA:459070
HP:0033353	Abnormal blood vessel morphology	54914	FOCAD	OMIM:619991
HP:0033353	Abnormal blood vessel morphology	4010	LMX1B	ORPHA:2614
HP:0033353	Abnormal blood vessel morphology	6899	TBX1	ORPHA:3384
HP:0033353	Abnormal blood vessel morphology	137814	NKX2-6	ORPHA:3384
HP:0033353	Abnormal blood vessel morphology	23129	PLXND1	ORPHA:3384
HP:0033353	Abnormal blood vessel morphology	7049	TGFBR3	ORPHA:231160
HP:0033353	Abnormal blood vessel morphology	83854	ANGPTL6	ORPHA:231160
HP:0033353	Abnormal blood vessel morphology	23545	ATP6V0A2	ORPHA:2834
HP:0033353	Abnormal blood vessel morphology	23545	ATP6V0A2	ORPHA:357074
HP:0033353	Abnormal blood vessel morphology	523	ATP6V1A	ORPHA:357074
HP:0033353	Abnormal blood vessel morphology	85465	SELENOI	ORPHA:506353
HP:0033353	Abnormal blood vessel morphology	4535	MT-ND1	OMIM:535000
HP:0033353	Abnormal blood vessel morphology	4536	MT-ND2	OMIM:535000
HP:0033353	Abnormal blood vessel morphology	4538	MT-ND4	OMIM:535000
HP:0033353	Abnormal blood vessel morphology	4514	MT-CO3	OMIM:535000
HP:0033353	Abnormal blood vessel morphology	4519	MT-CYB	OMIM:535000
HP:0033353	Abnormal blood vessel morphology	4540	MT-ND5	OMIM:535000
HP:0033353	Abnormal blood vessel morphology	4541	MT-ND6	OMIM:535000
HP:0033353	Abnormal blood vessel morphology	4539	MT-ND4L	OMIM:535000
HP:0033353	Abnormal blood vessel morphology	4750	NEK1	ORPHA:2751
HP:0033353	Abnormal blood vessel morphology	2161	F12	ORPHA:330
HP:0033353	Abnormal blood vessel morphology	7439	BEST1	OMIM:193220
HP:0033353	Abnormal blood vessel morphology	7287	TULP1	OMIM:600132
HP:0033353	Abnormal blood vessel morphology	9129	PRPF3	OMIM:601414
HP:0033353	Abnormal blood vessel morphology	57096	RPGRIP1	OMIM:613826
HP:0033353	Abnormal blood vessel morphology	427	ASAH1	ORPHA:333
HP:0033353	Abnormal blood vessel morphology	427	ASAH1	OMIM:228000
HP:0033353	Abnormal blood vessel morphology	5476	CTSA	ORPHA:351
HP:0033353	Abnormal blood vessel morphology	5476	CTSA	OMIM:256540
HP:0033353	Abnormal blood vessel morphology	6609	SMPD1	ORPHA:77293
HP:0033353	Abnormal blood vessel morphology	6609	SMPD1	OMIM:257200
HP:0033353	Abnormal blood vessel morphology	3074	HEXB	ORPHA:309155
HP:0033353	Abnormal blood vessel morphology	3074	HEXB	OMIM:268800
HP:0033353	Abnormal blood vessel morphology	2517	FUCA1	OMIM:230000
HP:0033353	Abnormal blood vessel morphology	2720	GLB1	OMIM:230500
HP:0033353	Abnormal blood vessel morphology	2720	GLB1	OMIM:230650
HP:0033353	Abnormal blood vessel morphology	2720	GLB1	ORPHA:79255
HP:0033353	Abnormal blood vessel morphology	2581	GALC	ORPHA:206436
HP:0033353	Abnormal blood vessel morphology	5660	PSAP	ORPHA:206436
HP:0033353	Abnormal blood vessel morphology	4758	NEU1	OMIM:256550
HP:0033353	Abnormal blood vessel morphology	4758	NEU1	ORPHA:93399
HP:0033353	Abnormal blood vessel morphology	4758	NEU1	ORPHA:812
HP:0033353	Abnormal blood vessel morphology	4758	NEU1	ORPHA:93400
HP:0033353	Abnormal blood vessel morphology	3073	HEXA	OMIM:272800
HP:0033353	Abnormal blood vessel morphology	1615	DARS1	OMIM:615281
HP:0033353	Abnormal blood vessel morphology	2760	GM2A	ORPHA:309246
HP:0033353	Abnormal blood vessel morphology	10730	YME1L1	OMIM:617302
HP:0033353	Abnormal blood vessel morphology	10370	CITED2	OMIM:614433
HP:0033353	Abnormal blood vessel morphology	10370	CITED2	ORPHA:99105
HP:0033353	Abnormal blood vessel morphology	134701	RIPPLY2	ORPHA:2311
HP:0033353	Abnormal blood vessel morphology	10683	DLL3	ORPHA:2311
HP:0033353	Abnormal blood vessel morphology	3955	LFNG	ORPHA:2311
HP:0033353	Abnormal blood vessel morphology	145873	MESP2	ORPHA:2311
HP:0033353	Abnormal blood vessel morphology	8243	SMC1A	OMIM:301044
HP:0033353	Abnormal blood vessel morphology	5296	PIK3R2	OMIM:603387
HP:0033353	Abnormal blood vessel morphology	51726	DNAJB11	ORPHA:730
HP:0033353	Abnormal blood vessel morphology	23193	GANAB	ORPHA:730
HP:0033353	Abnormal blood vessel morphology	5310	PKD1	ORPHA:730
HP:0033353	Abnormal blood vessel morphology	5311	PKD2	ORPHA:730
HP:0033353	Abnormal blood vessel morphology	29880	ALG5	ORPHA:730
HP:0033353	Abnormal blood vessel morphology	9742	IFT140	ORPHA:730
HP:0033353	Abnormal blood vessel morphology	79796	ALG9	ORPHA:730
HP:0033353	Abnormal blood vessel morphology	80114	BICC1	ORPHA:730
HP:0033353	Abnormal blood vessel morphology	659	BMPR2	OMIM:178600
HP:0033353	Abnormal blood vessel morphology	129563	DIS3L2	OMIM:267000
HP:0033353	Abnormal blood vessel morphology	56006	SMG9	OMIM:616920
HP:0033353	Abnormal blood vessel morphology	2186	BPTF	ORPHA:529962
HP:0033353	Abnormal blood vessel morphology	93986	FOXP2	ORPHA:251061
HP:0033353	Abnormal blood vessel morphology	808	CALM3	OMIM:618782
HP:0033353	Abnormal blood vessel morphology	6811	STX5	OMIM:620454
HP:0033353	Abnormal blood vessel morphology	54892	NCAPG2	OMIM:618460
HP:0033353	Abnormal blood vessel morphology	81857	MED25	ORPHA:464738
HP:0033353	Abnormal blood vessel morphology	5567	PRKACB	OMIM:619143
HP:0033353	Abnormal blood vessel morphology	51780	KDM3B	OMIM:618846
HP:0033353	Abnormal blood vessel morphology	6091	ROBO1	OMIM:620305
HP:0033353	Abnormal blood vessel morphology	7086	TKT	ORPHA:488618
HP:0033353	Abnormal blood vessel morphology	57674	RNF213	OMIM:607151
HP:0033353	Abnormal blood vessel morphology	4774	NFIA	ORPHA:401986
HP:0033353	Abnormal blood vessel morphology	2982	GUCY1A1	ORPHA:401945
HP:0033353	Abnormal blood vessel morphology	2982	GUCY1A1	OMIM:615750
HP:0033353	Abnormal blood vessel morphology	5777	PTPN6	ORPHA:3243
HP:0033353	Abnormal blood vessel morphology	1776	DNASE1L3	ORPHA:36412
HP:0033353	Abnormal blood vessel morphology	4067	LYN	OMIM:620376
HP:0033353	Abnormal blood vessel morphology	80232	WDR26	OMIM:617616
HP:0033353	Abnormal blood vessel morphology	80232	WDR26	ORPHA:513456
HP:0033353	Abnormal blood vessel morphology	93627	TBCK	OMIM:616900
HP:0033353	Abnormal blood vessel morphology	9203	ZMYM3	OMIM:301111
HP:0033353	Abnormal blood vessel morphology	10525	HYOU1	OMIM:233600
HP:0033353	Abnormal blood vessel morphology	7317	UBA1	OMIM:301054
HP:0033353	Abnormal blood vessel morphology	51473	DCDC2	ORPHA:84081
HP:0033353	Abnormal blood vessel morphology	388015	RTL1	ORPHA:96334
HP:0033353	Abnormal blood vessel morphology	8788	DLK1	ORPHA:96334
HP:0033353	Abnormal blood vessel morphology	55384	MEG3	ORPHA:96334
HP:0033353	Abnormal blood vessel morphology	57466	SCAF4	OMIM:620511
HP:0033353	Abnormal blood vessel morphology	5518	PPP2R1A	ORPHA:457284
HP:0033353	Abnormal blood vessel morphology	10195	ALG3	ORPHA:79321
HP:0033353	Abnormal blood vessel morphology	348	APOE	ORPHA:412
HP:0033353	Abnormal blood vessel morphology	1581	CYP7A1	ORPHA:209902
HP:0033353	Abnormal blood vessel morphology	11235	PDCD10	ORPHA:221061
HP:0033353	Abnormal blood vessel morphology	83605	CCM2	ORPHA:221061
HP:0033353	Abnormal blood vessel morphology	889	KRIT1	ORPHA:221061
HP:0033353	Abnormal blood vessel morphology	4488	MSX2	ORPHA:60015
HP:0033353	Abnormal blood vessel morphology	60529	ALX4	ORPHA:60015
HP:0033353	Abnormal blood vessel morphology	126792	B3GALT6	ORPHA:536467
HP:0033353	Abnormal blood vessel morphology	92949	ADAMTSL1	ORPHA:521445
HP:0033353	Abnormal blood vessel morphology	3043	HBB	ORPHA:232
HP:0033353	Abnormal blood vessel morphology	2202	EFEMP1	ORPHA:98977
HP:0033353	Abnormal blood vessel morphology	1545	CYP1B1	ORPHA:98977
HP:0033353	Abnormal blood vessel morphology	4653	MYOC	ORPHA:98977
HP:0033353	Abnormal blood vessel morphology	3490	IGFBP7	OMIM:614224
HP:0033353	Abnormal blood vessel morphology	51434	ANAPC7	OMIM:619699
HP:0033353	Abnormal blood vessel morphology	25981	DNAH1	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	115948	ODAD3	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	54768	HYDIN	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	352909	DNAAF3	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	27148	STK36	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	51314	NME8	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	92749	DRC1	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	54970	TTC12	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	152110	NEK10	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	2302	FOXJ1	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	221421	RSPH9	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	85478	CCDC65	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	55036	CCDC40	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	51364	ZMYND10	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	64446	DNAI2	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	8382	NME5	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	6674	SPAG1	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	83544	DNAL1	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	89765	RSPH1	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	83538	ODAD4	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	200373	CFAP221	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	374407	DNAJB13	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	55172	DNAAF2	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	161582	DNAAF4	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	2622	GAS8	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	23639	DNAAF11	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	27019	DNAI1	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	345895	RSPH4A	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	54919	DNAAF5	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	6103	RPGR	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	85452	CFAP74	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	93233	ODAD1	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	55130	ODAD2	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	1767	DNAH5	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	83861	RSPH3	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	345643	MCIDAS	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	56683	CFAP298	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	79925	SPEF2	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	10309	CCNO	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	115399	LRRC56	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	139212	DNAAF6	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	123872	DNAAF1	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	85016	CFAP300	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	339829	CCDC39	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	8701	DNAH11	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	1770	DNAH9	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	246176	GAS2L2	ORPHA:244
HP:0033353	Abnormal blood vessel morphology	2859	GPR35	ORPHA:171
HP:0033353	Abnormal blood vessel morphology	10507	SEMA4D	ORPHA:171
HP:0033353	Abnormal blood vessel morphology	4485	MST1	ORPHA:171
HP:0033353	Abnormal blood vessel morphology	6925	TCF4	ORPHA:171
HP:0033353	Abnormal blood vessel morphology	84667	HES7	OMIM:613686
HP:0033353	Abnormal blood vessel morphology	9894	TELO2	ORPHA:488642
HP:0033353	Abnormal blood vessel morphology	145173	B3GLCT	ORPHA:709
HP:0033353	Abnormal blood vessel morphology	440275	EIF2AK4	ORPHA:199241
HP:0033353	Abnormal blood vessel morphology	5337	PLD1	OMIM:212093
HP:0033353	Abnormal blood vessel morphology	1656	DDX6	OMIM:618653
HP:0033353	Abnormal blood vessel morphology	5293	PIK3CD	ORPHA:221139
HP:0033353	Abnormal blood vessel morphology	90417	KNSTRN	ORPHA:221139
HP:0033353	Abnormal blood vessel morphology	5580	PRKCD	OMIM:615559
HP:0033353	Abnormal blood vessel morphology	8314	BAP1	ORPHA:50251
HP:0033353	Abnormal blood vessel morphology	1387	CREBBP	ORPHA:353277
HP:0033353	Abnormal blood vessel morphology	2033	EP300	ORPHA:353284
HP:0033353	Abnormal blood vessel morphology	58499	ZNF462	OMIM:618619
HP:0033353	Abnormal blood vessel morphology	2131	EXT1	ORPHA:321
HP:0033353	Abnormal blood vessel morphology	2132	EXT2	ORPHA:321
HP:0033353	Abnormal blood vessel morphology	55033	FKBP14	OMIM:614557
HP:0033353	Abnormal blood vessel morphology	7528	YY1	OMIM:617557
HP:0033353	Abnormal blood vessel morphology	168507	PKD1L1	OMIM:617205
HP:0033353	Abnormal blood vessel morphology	8854	ALDH1A2	OMIM:620025
HP:0033353	Abnormal blood vessel morphology	6326	SCN2A	ORPHA:293181
HP:0033353	Abnormal blood vessel morphology	57468	SLC12A5	ORPHA:293181
HP:0033353	Abnormal blood vessel morphology	23236	PLCB1	ORPHA:293181
HP:0033353	Abnormal blood vessel morphology	3785	KCNQ2	ORPHA:293181
HP:0033353	Abnormal blood vessel morphology	57582	KCNT1	ORPHA:293181
HP:0033353	Abnormal blood vessel morphology	5277	PIGA	ORPHA:293181
HP:0033353	Abnormal blood vessel morphology	6323	SCN1A	ORPHA:293181
HP:0033353	Abnormal blood vessel morphology	79751	SLC25A22	ORPHA:293181
HP:0033353	Abnormal blood vessel morphology	57465	TBC1D24	ORPHA:293181
HP:0033353	Abnormal blood vessel morphology	3913	LAMB2	OMIM:614199
HP:0033353	Abnormal blood vessel morphology	6439	SFTPB	OMIM:265120
HP:0033353	Abnormal blood vessel morphology	2658	GDF2	ORPHA:774
HP:0033353	Abnormal blood vessel morphology	94	ACVRL1	ORPHA:774
HP:0033353	Abnormal blood vessel morphology	4089	SMAD4	ORPHA:774
HP:0033353	Abnormal blood vessel morphology	2022	ENG	ORPHA:774
HP:0033353	Abnormal blood vessel morphology	875	CBS	ORPHA:394
HP:0033353	Abnormal blood vessel morphology	11146	GLMN	ORPHA:83454
HP:0033353	Abnormal blood vessel morphology	9508	ADAMTS3	ORPHA:2136
HP:0033353	Abnormal blood vessel morphology	147372	CCBE1	ORPHA:2136
HP:0033353	Abnormal blood vessel morphology	79633	FAT4	ORPHA:2136
HP:0033353	Abnormal blood vessel morphology	5728	PTEN	ORPHA:109
HP:0033353	Abnormal blood vessel morphology	5728	PTEN	ORPHA:137608
HP:0033353	Abnormal blood vessel morphology	672	BRCA1	ORPHA:84
HP:0033353	Abnormal blood vessel morphology	10459	MAD2L2	ORPHA:84
HP:0033353	Abnormal blood vessel morphology	7516	XRCC2	ORPHA:84
HP:0033353	Abnormal blood vessel morphology	29089	UBE2T	ORPHA:84
HP:0033353	Abnormal blood vessel morphology	675	BRCA2	ORPHA:84
HP:0033353	Abnormal blood vessel morphology	55120	FANCL	ORPHA:84
HP:0033353	Abnormal blood vessel morphology	2177	FANCD2	ORPHA:84
HP:0033353	Abnormal blood vessel morphology	2175	FANCA	ORPHA:84
HP:0033353	Abnormal blood vessel morphology	2187	FANCB	ORPHA:84
HP:0033353	Abnormal blood vessel morphology	2176	FANCC	ORPHA:84
HP:0033353	Abnormal blood vessel morphology	2178	FANCE	ORPHA:84
HP:0033353	Abnormal blood vessel morphology	2188	FANCF	ORPHA:84
HP:0033353	Abnormal blood vessel morphology	2189	FANCG	ORPHA:84
HP:0033353	Abnormal blood vessel morphology	5888	RAD51	ORPHA:84
HP:0033353	Abnormal blood vessel morphology	5889	RAD51C	ORPHA:84
HP:0033353	Abnormal blood vessel morphology	55159	RFWD3	ORPHA:84
HP:0033353	Abnormal blood vessel morphology	83990	BRIP1	ORPHA:84
HP:0033353	Abnormal blood vessel morphology	57697	FANCM	ORPHA:84
HP:0033353	Abnormal blood vessel morphology	79728	PALB2	ORPHA:84
HP:0033353	Abnormal blood vessel morphology	84464	SLX4	ORPHA:84
HP:0033353	Abnormal blood vessel morphology	2072	ERCC4	ORPHA:84
HP:0033353	Abnormal blood vessel morphology	55215	FANCI	ORPHA:84
HP:0033353	Abnormal blood vessel morphology	2776	GNAQ	ORPHA:624
HP:0033353	Abnormal blood vessel morphology	207	AKT1	ORPHA:744
HP:0033353	Abnormal blood vessel morphology	2990	GUSB	ORPHA:584
HP:0033353	Abnormal blood vessel morphology	7010	TEK	ORPHA:1059
HP:0033353	Abnormal blood vessel morphology	3516	RBPJ	ORPHA:974
HP:0033353	Abnormal blood vessel morphology	4851	NOTCH1	ORPHA:974
HP:0033353	Abnormal blood vessel morphology	57514	ARHGAP31	ORPHA:974
HP:0033353	Abnormal blood vessel morphology	57572	DOCK6	ORPHA:974
HP:0033353	Abnormal blood vessel morphology	285203	EOGT	ORPHA:974
HP:0033353	Abnormal blood vessel morphology	54567	DLL4	ORPHA:974
HP:0033353	Abnormal blood vessel morphology	2767	GNA11	ORPHA:1556
HP:0033353	Abnormal blood vessel morphology	151188	ARL6IP6	ORPHA:1556
HP:0033353	Abnormal blood vessel morphology	55249	YY1AP1	ORPHA:79094
HP:0033353	Abnormal blood vessel morphology	55107	ANO1	OMIM:620687
HP:0033353	Abnormal blood vessel morphology	6392	SDHD	OMIM:168000
HP:0033353	Abnormal blood vessel morphology	6850	SYK	OMIM:619381
HP:0033353	Abnormal blood vessel morphology	5238	PGM3	ORPHA:443811
HP:0033353	Abnormal blood vessel morphology	5238	PGM3	OMIM:615816
HP:0033353	Abnormal blood vessel morphology	3594	IL12RB1	ORPHA:319552
HP:0033353	Abnormal blood vessel morphology	713	C1QB	OMIM:620321
HP:0033353	Abnormal blood vessel morphology	3055	HCK	OMIM:620296
HP:0033353	Abnormal blood vessel morphology	6651	SON	ORPHA:500150
HP:0033353	Abnormal blood vessel morphology	57688	ZSWIM6	OMIM:603671
HP:0033355	Increased urine deoxypyridinoline level	4982	TNFRSF11B	OMIM:239000
HP:0033358	Abnormal urine osmolality	554	AVPR2	ORPHA:223
HP:0033358	Abnormal urine osmolality	554	AVPR2	OMIM:300539
HP:0033358	Abnormal urine osmolality	359	AQP2	ORPHA:223
HP:0033358	Abnormal urine osmolality	6557	SLC12A1	OMIM:601678
HP:0033358	Abnormal urine osmolality	10686	CLDN16	OMIM:248250
HP:0033358	Abnormal urine osmolality	7369	UMOD	OMIM:162000
HP:0033358	Abnormal urine osmolality	9915	ARNT2	OMIM:615926
HP:0033358	Abnormal urine osmolality	1184	CLCN5	OMIM:308990
HP:0033358	Abnormal urine osmolality	3758	KCNJ1	OMIM:241200
HP:0033358	Abnormal urine osmolality	4867	NPHP1	OMIM:256100
HP:0033357	Limited head rotation	29895	MYL11	OMIM:619110
HP:0033362	Recurrent coughing spasms	4359	MPZ	OMIM:607736
HP:0007230	Decreased distal sensory nerve action potential	59341	TRPV4	OMIM:606071
HP:0007230	Decreased distal sensory nerve action potential	22880	MORC2	ORPHA:466768
HP:0007230	Decreased distal sensory nerve action potential	54332	GDAP1	OMIM:607706
HP:0007230	Decreased distal sensory nerve action potential	5981	RFC1	OMIM:614575
HP:0007230	Decreased distal sensory nerve action potential	81846	SBF2	ORPHA:99956
HP:0007230	Decreased distal sensory nerve action potential	4747	NEFL	OMIM:607684
HP:0007230	Decreased distal sensory nerve action potential	4358	MPV17	OMIM:618400
HP:0007230	Decreased distal sensory nerve action potential	9516	LITAF	OMIM:601098
HP:0007230	Decreased distal sensory nerve action potential	3098	HK1	ORPHA:99953
HP:0007232	Spinocerebellar tract disease in lower limbs	4125	MAN2B1	OMIM:248500
HP:0007233	Clusters of axonal regeneration	4747	NEFL	OMIM:607734
HP:0007233	Clusters of axonal regeneration	4000	LMNA	ORPHA:98856
HP:0007233	Clusters of axonal regeneration	54332	GDAP1	ORPHA:101097
HP:0001328	Specific learning disability	2137	EXTL3	ORPHA:508533
HP:0001328	Specific learning disability	875	CBS	ORPHA:394
HP:0001328	Specific learning disability	4524	MTHFR	ORPHA:395
HP:0001328	Specific learning disability	6513	SLC2A1	ORPHA:64280
HP:0001328	Specific learning disability	6513	SLC2A1	ORPHA:98811
HP:0001328	Specific learning disability	6513	SLC2A1	OMIM:606777
HP:0001328	Specific learning disability	2562	GABRB3	ORPHA:64280
HP:0001328	Specific learning disability	2554	GABRA1	ORPHA:64280
HP:0001328	Specific learning disability	8912	CACNA1H	ORPHA:64280
HP:0001328	Specific learning disability	8629	JRK	ORPHA:64280
HP:0001328	Specific learning disability	2566	GABRG2	ORPHA:64280
HP:0001328	Specific learning disability	2566	GABRG2	ORPHA:1945
HP:0001328	Specific learning disability	6309	SC5D	ORPHA:46059
HP:0001328	Specific learning disability	3094	HINT1	ORPHA:324442
HP:0001328	Specific learning disability	161742	SPRED1	OMIM:611431
HP:0001328	Specific learning disability	161742	SPRED1	ORPHA:137605
HP:0001328	Specific learning disability	6228	RPS23	OMIM:617412
HP:0001328	Specific learning disability	4487	MSX1	ORPHA:199302
HP:0001328	Specific learning disability	5818	NECTIN1	ORPHA:199302
HP:0001328	Specific learning disability	8626	TP63	ORPHA:199302
HP:0001328	Specific learning disability	3664	IRF6	ORPHA:199302
HP:0001328	Specific learning disability	3664	IRF6	ORPHA:1300
HP:0001328	Specific learning disability	79783	SUGCT	ORPHA:35706
HP:0001328	Specific learning disability	6687	SPG7	ORPHA:99013
HP:0001328	Specific learning disability	4125	MAN2B1	ORPHA:309282
HP:0001328	Specific learning disability	3481	IGF2	ORPHA:231144
HP:0001328	Specific learning disability	283120	H19	ORPHA:231144
HP:0001328	Specific learning disability	55249	YY1AP1	ORPHA:79094
HP:0001328	Specific learning disability	23600	AMACR	ORPHA:79095
HP:0001328	Specific learning disability	129563	DIS3L2	ORPHA:2849
HP:0001328	Specific learning disability	150468	CKAP2L	ORPHA:3255
HP:0001328	Specific learning disability	64324	NSD1	ORPHA:228415
HP:0001328	Specific learning disability	2188	FANCF	OMIM:603467
HP:0001328	Specific learning disability	51360	MBTPS2	ORPHA:2273
HP:0001328	Specific learning disability	170302	ARX	OMIM:300215
HP:0001328	Specific learning disability	10381	TUBB3	OMIM:600638
HP:0001328	Specific learning disability	215	ABCD1	ORPHA:139396
HP:0001328	Specific learning disability	3034	HAL	ORPHA:2157
HP:0001328	Specific learning disability	55157	DARS2	ORPHA:137898
HP:0001328	Specific learning disability	93986	FOXP2	ORPHA:209908
HP:0001328	Specific learning disability	84100	ARL6	OMIM:209900
HP:0001328	Specific learning disability	84100	ARL6	ORPHA:110
HP:0001328	Specific learning disability	79140	CCDC28B	OMIM:209900
HP:0001328	Specific learning disability	582	BBS1	OMIM:209900
HP:0001328	Specific learning disability	582	BBS1	ORPHA:110
HP:0001328	Specific learning disability	5832	ALDH18A1	OMIM:601162
HP:0001328	Specific learning disability	1130	LYST	ORPHA:167
HP:0001328	Specific learning disability	6899	TBX1	OMIM:188400
HP:0001328	Specific learning disability	6899	TBX1	OMIM:192430
HP:0001328	Specific learning disability	6899	TBX1	ORPHA:567
HP:0001328	Specific learning disability	4763	NF1	ORPHA:363700
HP:0001328	Specific learning disability	4763	NF1	OMIM:601321
HP:0001328	Specific learning disability	4763	NF1	OMIM:162200
HP:0001328	Specific learning disability	4763	NF1	ORPHA:97685
HP:0001328	Specific learning disability	4763	NF1	ORPHA:638
HP:0001328	Specific learning disability	26053	AUTS2	ORPHA:352490
HP:0001328	Specific learning disability	2903	GRIN2A	ORPHA:289266
HP:0001328	Specific learning disability	2903	GRIN2A	ORPHA:163721
HP:0001328	Specific learning disability	2903	GRIN2A	ORPHA:1945
HP:0001328	Specific learning disability	80208	SPG11	ORPHA:2822
HP:0001328	Specific learning disability	80208	SPG11	OMIM:604360
HP:0001328	Specific learning disability	28514	DLL1	ORPHA:93926
HP:0001328	Specific learning disability	28514	DLL1	ORPHA:93924
HP:0001328	Specific learning disability	28514	DLL1	ORPHA:93925
HP:0001328	Specific learning disability	28514	DLL1	ORPHA:280195
HP:0001328	Specific learning disability	28514	DLL1	ORPHA:220386
HP:0001328	Specific learning disability	2253	FGF8	ORPHA:93926
HP:0001328	Specific learning disability	2253	FGF8	ORPHA:93924
HP:0001328	Specific learning disability	2253	FGF8	ORPHA:93925
HP:0001328	Specific learning disability	2253	FGF8	ORPHA:280195
HP:0001328	Specific learning disability	2253	FGF8	ORPHA:220386
HP:0001328	Specific learning disability	6496	SIX3	ORPHA:93926
HP:0001328	Specific learning disability	6496	SIX3	ORPHA:93924
HP:0001328	Specific learning disability	6496	SIX3	ORPHA:93925
HP:0001328	Specific learning disability	6496	SIX3	ORPHA:280195
HP:0001328	Specific learning disability	6496	SIX3	ORPHA:220386
HP:0001328	Specific learning disability	7050	TGIF1	ORPHA:93926
HP:0001328	Specific learning disability	7050	TGIF1	ORPHA:93924
HP:0001328	Specific learning disability	7050	TGIF1	ORPHA:93925
HP:0001328	Specific learning disability	7050	TGIF1	ORPHA:280195
HP:0001328	Specific learning disability	7050	TGIF1	ORPHA:220386
HP:0001328	Specific learning disability	4838	NODAL	ORPHA:93926
HP:0001328	Specific learning disability	4838	NODAL	ORPHA:93924
HP:0001328	Specific learning disability	4838	NODAL	ORPHA:93925
HP:0001328	Specific learning disability	4838	NODAL	ORPHA:280195
HP:0001328	Specific learning disability	4838	NODAL	ORPHA:220386
HP:0001328	Specific learning disability	6469	SHH	ORPHA:93926
HP:0001328	Specific learning disability	6469	SHH	ORPHA:93924
HP:0001328	Specific learning disability	6469	SHH	ORPHA:93925
HP:0001328	Specific learning disability	6469	SHH	ORPHA:280195
HP:0001328	Specific learning disability	6469	SHH	ORPHA:220386
HP:0001328	Specific learning disability	6469	SHH	OMIM:147250
HP:0001328	Specific learning disability	7546	ZIC2	ORPHA:93926
HP:0001328	Specific learning disability	7546	ZIC2	ORPHA:93924
HP:0001328	Specific learning disability	7546	ZIC2	ORPHA:93925
HP:0001328	Specific learning disability	7546	ZIC2	ORPHA:280195
HP:0001328	Specific learning disability	7546	ZIC2	ORPHA:220386
HP:0001328	Specific learning disability	6491	STIL	ORPHA:93926
HP:0001328	Specific learning disability	6491	STIL	ORPHA:93924
HP:0001328	Specific learning disability	6491	STIL	ORPHA:93925
HP:0001328	Specific learning disability	6491	STIL	ORPHA:280195
HP:0001328	Specific learning disability	6491	STIL	ORPHA:220386
HP:0001328	Specific learning disability	2619	GAS1	ORPHA:93926
HP:0001328	Specific learning disability	2619	GAS1	ORPHA:93924
HP:0001328	Specific learning disability	2619	GAS1	ORPHA:93925
HP:0001328	Specific learning disability	2619	GAS1	ORPHA:280195
HP:0001328	Specific learning disability	2619	GAS1	ORPHA:220386
HP:0001328	Specific learning disability	84976	DISP1	ORPHA:93926
HP:0001328	Specific learning disability	84976	DISP1	ORPHA:93924
HP:0001328	Specific learning disability	84976	DISP1	ORPHA:93925
HP:0001328	Specific learning disability	84976	DISP1	ORPHA:280195
HP:0001328	Specific learning disability	84976	DISP1	ORPHA:220386
HP:0001328	Specific learning disability	2736	GLI2	ORPHA:93926
HP:0001328	Specific learning disability	2736	GLI2	ORPHA:93924
HP:0001328	Specific learning disability	2736	GLI2	ORPHA:93925
HP:0001328	Specific learning disability	2736	GLI2	ORPHA:280195
HP:0001328	Specific learning disability	2736	GLI2	ORPHA:220386
HP:0001328	Specific learning disability	8928	FOXH1	ORPHA:93926
HP:0001328	Specific learning disability	8928	FOXH1	ORPHA:93924
HP:0001328	Specific learning disability	8928	FOXH1	ORPHA:93925
HP:0001328	Specific learning disability	8928	FOXH1	ORPHA:280195
HP:0001328	Specific learning disability	8928	FOXH1	ORPHA:220386
HP:0001328	Specific learning disability	6997	CRIPTO	ORPHA:93926
HP:0001328	Specific learning disability	6997	CRIPTO	ORPHA:93924
HP:0001328	Specific learning disability	6997	CRIPTO	ORPHA:93925
HP:0001328	Specific learning disability	6997	CRIPTO	ORPHA:280195
HP:0001328	Specific learning disability	6997	CRIPTO	ORPHA:220386
HP:0001328	Specific learning disability	5727	PTCH1	ORPHA:93926
HP:0001328	Specific learning disability	5727	PTCH1	ORPHA:93924
HP:0001328	Specific learning disability	5727	PTCH1	ORPHA:93925
HP:0001328	Specific learning disability	5727	PTCH1	ORPHA:280195
HP:0001328	Specific learning disability	5727	PTCH1	ORPHA:220386
HP:0001328	Specific learning disability	50937	CDON	ORPHA:93926
HP:0001328	Specific learning disability	50937	CDON	ORPHA:93924
HP:0001328	Specific learning disability	50937	CDON	ORPHA:93925
HP:0001328	Specific learning disability	50937	CDON	ORPHA:280195
HP:0001328	Specific learning disability	50937	CDON	ORPHA:220386
HP:0001328	Specific learning disability	2260	FGFR1	ORPHA:93924
HP:0001328	Specific learning disability	2260	FGFR1	ORPHA:220386
HP:0001328	Specific learning disability	23007	PLCH1	ORPHA:93925
HP:0001328	Specific learning disability	10735	STAG2	ORPHA:93925
HP:0001328	Specific learning disability	10735	STAG2	ORPHA:220386
HP:0001328	Specific learning disability	89910	UBE3B	ORPHA:2707
HP:0001328	Specific learning disability	10382	TUBB4A	OMIM:612438
HP:0001328	Specific learning disability	79158	GNPTAB	OMIM:252600
HP:0001328	Specific learning disability	112476	PRRT2	ORPHA:98811
HP:0001328	Specific learning disability	54496	PRMT7	ORPHA:464288
HP:0001328	Specific learning disability	3981	LIG4	ORPHA:235
HP:0001328	Specific learning disability	54888	NSUN2	ORPHA:235
HP:0001328	Specific learning disability	2746	GLUD1	ORPHA:35878
HP:0001328	Specific learning disability	7840	ALMS1	ORPHA:64
HP:0001328	Specific learning disability	92482	BBIP1	ORPHA:110
HP:0001328	Specific learning disability	80184	CEP290	ORPHA:110
HP:0001328	Specific learning disability	11020	IFT27	ORPHA:110
HP:0001328	Specific learning disability	49855	SCAPER	ORPHA:110
HP:0001328	Specific learning disability	4867	NPHP1	ORPHA:110
HP:0001328	Specific learning disability	51057	WDPCP	ORPHA:110
HP:0001328	Specific learning disability	132320	SCLT1	ORPHA:110
HP:0001328	Specific learning disability	27241	BBS9	ORPHA:110
HP:0001328	Specific learning disability	84984	CEP19	ORPHA:110
HP:0001328	Specific learning disability	22954	TRIM32	ORPHA:110
HP:0001328	Specific learning disability	54903	MKS1	ORPHA:110
HP:0001328	Specific learning disability	79738	BBS10	ORPHA:110
HP:0001328	Specific learning disability	123016	TTC8	ORPHA:110
HP:0001328	Specific learning disability	26160	IFT172	ORPHA:110
HP:0001328	Specific learning disability	583	BBS2	ORPHA:110
HP:0001328	Specific learning disability	585	BBS4	ORPHA:110
HP:0001328	Specific learning disability	8195	MKKS	ORPHA:110
HP:0001328	Specific learning disability	54585	LZTFL1	ORPHA:110
HP:0001328	Specific learning disability	55212	BBS7	ORPHA:110
HP:0001328	Specific learning disability	166379	BBS12	ORPHA:110
HP:0001328	Specific learning disability	10806	SDCCAG8	ORPHA:110
HP:0001328	Specific learning disability	157657	CFAP418	ORPHA:110
HP:0001328	Specific learning disability	129880	BBS5	ORPHA:110
HP:0001328	Specific learning disability	80173	IFT74	ORPHA:110
HP:0001328	Specific learning disability	1593	CYP27A1	ORPHA:909
HP:0001328	Specific learning disability	1857	DVL3	ORPHA:3107
HP:0001328	Specific learning disability	7474	WNT5A	ORPHA:3107
HP:0001328	Specific learning disability	1855	DVL1	ORPHA:3107
HP:0001328	Specific learning disability	2535	FZD2	ORPHA:3107
HP:0001328	Specific learning disability	27286	SRPX2	ORPHA:163721
HP:0001328	Specific learning disability	27286	SRPX2	ORPHA:98889
HP:0001328	Specific learning disability	27286	SRPX2	ORPHA:1945
HP:0001328	Specific learning disability	7454	WAS	ORPHA:906
HP:0001328	Specific learning disability	7456	WIPF1	ORPHA:906
HP:0001328	Specific learning disability	10056	FARSB	OMIM:613658
HP:0001328	Specific learning disability	81031	SLC2A10	ORPHA:3342
HP:0001328	Specific learning disability	9289	ADGRG1	ORPHA:98889
HP:0001328	Specific learning disability	5297	PI4KA	ORPHA:98889
HP:0001328	Specific learning disability	79228	THOC6	ORPHA:363444
HP:0001328	Specific learning disability	4644	MYO5A	ORPHA:33445
HP:0001328	Specific learning disability	347733	TUBB2B	OMIM:610031
HP:0001328	Specific learning disability	81887	LAS1L	ORPHA:3459
HP:0001328	Specific learning disability	55869	HDAC8	ORPHA:3459
HP:0001328	Specific learning disability	641	BLM	OMIM:210900
HP:0001328	Specific learning disability	182	JAG1	OMIM:118450
HP:0001328	Specific learning disability	7248	TSC1	OMIM:191100
HP:0001328	Specific learning disability	7248	TSC1	ORPHA:805
HP:0001328	Specific learning disability	9772	TMEM94	OMIM:618316
HP:0001328	Specific learning disability	54487	DGCR8	OMIM:192430
HP:0001328	Specific learning disability	8214	DGCR6	OMIM:192430
HP:0001328	Specific learning disability	8220	ESS2	OMIM:192430
HP:0001328	Specific learning disability	9993	DGCR2	OMIM:192430
HP:0001328	Specific learning disability	2324	FLT4	ORPHA:79452
HP:0001328	Specific learning disability	9780	PIEZO1	ORPHA:79452
HP:0001328	Specific learning disability	285	ANGPT2	ORPHA:79452
HP:0001328	Specific learning disability	57165	GJC2	ORPHA:79452
HP:0001328	Specific learning disability	56652	TWNK	OMIM:271245
HP:0001328	Specific learning disability	6638	SNRPN	ORPHA:98754
HP:0001328	Specific learning disability	6638	SNRPN	ORPHA:177904
HP:0001328	Specific learning disability	6638	SNRPN	ORPHA:177901
HP:0001328	Specific learning disability	4692	NDN	ORPHA:98754
HP:0001328	Specific learning disability	4692	NDN	ORPHA:177904
HP:0001328	Specific learning disability	4692	NDN	ORPHA:177901
HP:0001328	Specific learning disability	54551	MAGEL2	ORPHA:98754
HP:0001328	Specific learning disability	54551	MAGEL2	OMIM:176270
HP:0001328	Specific learning disability	54551	MAGEL2	ORPHA:177904
HP:0001328	Specific learning disability	54551	MAGEL2	ORPHA:177901
HP:0001328	Specific learning disability	54551	MAGEL2	ORPHA:398069
HP:0001328	Specific learning disability	4948	OCA2	ORPHA:98754
HP:0001328	Specific learning disability	4948	OCA2	ORPHA:177904
HP:0001328	Specific learning disability	4948	OCA2	ORPHA:177901
HP:0001328	Specific learning disability	8218	CLTCL1	ORPHA:453510
HP:0001328	Specific learning disability	9725	TMEM63A	OMIM:618688
HP:0001328	Specific learning disability	3458	IFNG	ORPHA:805
HP:0001328	Specific learning disability	3458	IFNG	OMIM:613254
HP:0001328	Specific learning disability	7249	TSC2	ORPHA:805
HP:0001328	Specific learning disability	7249	TSC2	OMIM:613254
HP:0001328	Specific learning disability	81846	SBF2	ORPHA:99956
HP:0001328	Specific learning disability	114327	EFHC1	ORPHA:1941
HP:0001328	Specific learning disability	226	ALDOA	ORPHA:57
HP:0001328	Specific learning disability	25970	SH2B1	ORPHA:261197
HP:0001328	Specific learning disability	23503	ZFYVE26	ORPHA:100996
HP:0001328	Specific learning disability	5587	PRKD1	OMIM:617364
HP:0001328	Specific learning disability	7068	THRB	ORPHA:566243
HP:0001328	Specific learning disability	63895	PIEZO2	ORPHA:2461
HP:0001328	Specific learning disability	165918	RNF168	ORPHA:420741
HP:0001328	Specific learning disability	4089	SMAD4	ORPHA:2588
HP:0001328	Specific learning disability	435	ASL	ORPHA:23
HP:0001328	Specific learning disability	5888	RAD51	ORPHA:238722
HP:0001328	Specific learning disability	10126	DNAL4	ORPHA:238722
HP:0001328	Specific learning disability	9423	NTN1	ORPHA:238722
HP:0001328	Specific learning disability	1630	DCC	ORPHA:238722
HP:0001328	Specific learning disability	4558	MT-TF	ORPHA:550
HP:0001328	Specific learning disability	4572	MT-TQ	ORPHA:550
HP:0001328	Specific learning disability	4512	MT-CO1	ORPHA:550
HP:0001328	Specific learning disability	4513	MT-CO2	ORPHA:550
HP:0001328	Specific learning disability	4514	MT-CO3	ORPHA:550
HP:0001328	Specific learning disability	4578	MT-TW	ORPHA:550
HP:0001328	Specific learning disability	4540	MT-ND5	ORPHA:550
HP:0001328	Specific learning disability	4541	MT-ND6	ORPHA:550
HP:0001328	Specific learning disability	4535	MT-ND1	ORPHA:550
HP:0001328	Specific learning disability	4538	MT-ND4	ORPHA:550
HP:0001328	Specific learning disability	4567	MT-TL1	ORPHA:550
HP:0001328	Specific learning disability	4574	MT-TS1	ORPHA:550
HP:0001328	Specific learning disability	4575	MT-TS2	ORPHA:550
HP:0001328	Specific learning disability	4564	MT-TH	ORPHA:550
HP:0001328	Specific learning disability	9158	FIBP	ORPHA:500095
HP:0001328	Specific learning disability	22856	CHSY1	ORPHA:363417
HP:0001328	Specific learning disability	51621	KLF13	OMIM:612001
HP:0001328	Specific learning disability	1139	CHRNA7	OMIM:612001
HP:0001328	Specific learning disability	253738	EBF3	ORPHA:96148
HP:0001328	Specific learning disability	79813	EHMT1	ORPHA:96147
HP:0001328	Specific learning disability	100033413	SNORD116-1	OMIM:176270
HP:0001328	Specific learning disability	8924	HERC2	OMIM:176270
HP:0001328	Specific learning disability	23742	NPAP1	OMIM:176270
HP:0001328	Specific learning disability	338433	SNORD115-1	OMIM:176270
HP:0001328	Specific learning disability	7681	MKRN3	OMIM:176270
HP:0001328	Specific learning disability	145624	PWAR1	OMIM:176270
HP:0001328	Specific learning disability	3653	IPW	OMIM:176270
HP:0001328	Specific learning disability	791114	PWRN1	OMIM:176270
HP:0001328	Specific learning disability	5009	OTC	ORPHA:664
HP:0001328	Specific learning disability	5621	PRNP	ORPHA:280397
HP:0001328	Specific learning disability	2334	AFF2	ORPHA:100973
HP:0001328	Specific learning disability	9948	WDR1	OMIM:150550
HP:0001328	Specific learning disability	6729	SRP54	OMIM:260400
HP:0001328	Specific learning disability	51119	SBDS	OMIM:260400
HP:0001328	Specific learning disability	134218	DNAJC21	OMIM:260400
HP:0001328	Specific learning disability	6492	SIM1	ORPHA:171829
HP:0001328	Specific learning disability	6492	SIM1	ORPHA:398079
HP:0001328	Specific learning disability	443	ASPA	ORPHA:314918
HP:0001328	Specific learning disability	22880	MORC2	ORPHA:466768
HP:0001328	Specific learning disability	26277	TINF2	OMIM:127550
HP:0001328	Specific learning disability	7012	TERC	OMIM:127550
HP:0001328	Specific learning disability	7015	TERT	OMIM:127550
HP:0001328	Specific learning disability	26128	KIFBP	ORPHA:66629
HP:0001328	Specific learning disability	3736	KCNA1	ORPHA:37612
HP:0001328	Specific learning disability	10166	SLC25A15	ORPHA:415
HP:0001328	Specific learning disability	10166	SLC25A15	OMIM:238970
HP:0001328	Specific learning disability	84892	POMGNT2	ORPHA:899
HP:0001328	Specific learning disability	148789	B3GALNT2	ORPHA:899
HP:0001328	Specific learning disability	79147	FKRP	ORPHA:899
HP:0001328	Specific learning disability	29954	POMT2	ORPHA:899
HP:0001328	Specific learning disability	29954	POMT2	ORPHA:206559
HP:0001328	Specific learning disability	9215	LARGE1	ORPHA:899
HP:0001328	Specific learning disability	1282	COL4A1	ORPHA:899
HP:0001328	Specific learning disability	729920	CRPPA	ORPHA:899
HP:0001328	Specific learning disability	10329	RXYLT1	ORPHA:899
HP:0001328	Specific learning disability	1605	DAG1	ORPHA:899
HP:0001328	Specific learning disability	11041	B4GAT1	ORPHA:899
HP:0001328	Specific learning disability	10585	POMT1	ORPHA:899
HP:0001328	Specific learning disability	84197	POMK	ORPHA:899
HP:0001328	Specific learning disability	2218	FKTN	ORPHA:899
HP:0001328	Specific learning disability	55624	POMGNT1	ORPHA:899
HP:0001328	Specific learning disability	2592	GALT	ORPHA:79239
HP:0001328	Specific learning disability	27235	COQ2	OMIM:607426
HP:0001328	Specific learning disability	6609	SMPD1	ORPHA:77293
HP:0001328	Specific learning disability	2332	FMR1	ORPHA:449291
HP:0001328	Specific learning disability	4052	LTBP1	OMIM:619451
HP:0001328	Specific learning disability	2664	GDI1	OMIM:300849
HP:0001328	Specific learning disability	3759	KCNJ2	OMIM:170390
HP:0001328	Specific learning disability	3759	KCNJ2	ORPHA:37553
HP:0001328	Specific learning disability	23389	MED13L	ORPHA:369891
HP:0001328	Specific learning disability	1312	COMT	ORPHA:567
HP:0001328	Specific learning disability	221037	JMJD1C	ORPHA:567
HP:0001328	Specific learning disability	2812	GP1BB	ORPHA:567
HP:0001328	Specific learning disability	6239	RREB1	ORPHA:567
HP:0001328	Specific learning disability	7290	HIRA	ORPHA:567
HP:0001328	Specific learning disability	9632	SEC24C	ORPHA:567
HP:0001328	Specific learning disability	7353	UFD1	ORPHA:567
HP:0001328	Specific learning disability	421	ARVCF	ORPHA:567
HP:0001328	Specific learning disability	81620	CDT1	ORPHA:2554
HP:0001328	Specific learning disability	5000	ORC4	ORPHA:2554
HP:0001328	Specific learning disability	23594	ORC6	ORPHA:2554
HP:0001328	Specific learning disability	8318	CDC45	ORPHA:2554
HP:0001328	Specific learning disability	990	CDC6	ORPHA:2554
HP:0001328	Specific learning disability	4998	ORC1	ORPHA:2554
HP:0001328	Specific learning disability	51053	GMNN	ORPHA:2554
HP:0001328	Specific learning disability	54539	NDUFB11	ORPHA:2556
HP:0001328	Specific learning disability	1349	COX7B	ORPHA:2556
HP:0001328	Specific learning disability	3052	HCCS	ORPHA:2556
HP:0001328	Specific learning disability	7703	PCGF2	OMIM:618371
HP:0001328	Specific learning disability	23111	SPART	ORPHA:101000
HP:0001328	Specific learning disability	8091	HMGA2	ORPHA:94063
HP:0001328	Specific learning disability	23592	LEMD3	ORPHA:94063
HP:0001328	Specific learning disability	5283	PIGH	OMIM:618010
HP:0001328	Specific learning disability	2475	MTOR	ORPHA:457485
HP:0001328	Specific learning disability	4613	MYCN	OMIM:164280
HP:0001328	Specific learning disability	4613	MYCN	ORPHA:391641
HP:0001328	Specific learning disability	139285	AMER1	ORPHA:2780
HP:0001328	Specific learning disability	4990	SIX6	OMIM:206900
HP:0001328	Specific learning disability	6657	SOX2	OMIM:206900
HP:0001328	Specific learning disability	64374	SIL1	ORPHA:559
HP:0001328	Specific learning disability	91039	DPP9	OMIM:620331
HP:0001328	Specific learning disability	760	CA2	ORPHA:2785
HP:0001328	Specific learning disability	1756	DMD	ORPHA:98896
HP:0001328	Specific learning disability	8425	LTBP4	ORPHA:98896
HP:0001328	Specific learning disability	538	ATP7A	ORPHA:198
HP:0001328	Specific learning disability	2892	GRIA3	ORPHA:364028
HP:0001328	Specific learning disability	10367	MICU1	OMIM:615673
HP:0001328	Specific learning disability	22866	CNKSR2	OMIM:301008
HP:0001328	Specific learning disability	9791	PTDSS1	ORPHA:2658
HP:0001328	Specific learning disability	6925	TCF4	ORPHA:2896
HP:0001328	Specific learning disability	2887	GRB10	ORPHA:96182
HP:0001328	Specific learning disability	6595	SMARCA2	ORPHA:3051
HP:0001328	Specific learning disability	60676	PAPPA2	OMIM:619489
HP:0001328	Specific learning disability	7204	TRIO	ORPHA:476126
HP:0001328	Specific learning disability	1806	DPYD	ORPHA:1675
HP:0001328	Specific learning disability	3832	KIF11	ORPHA:2526
HP:0001328	Specific learning disability	6853	SYN1	ORPHA:85294
HP:0001328	Specific learning disability	6853	SYN1	OMIM:300491
HP:0001328	Specific learning disability	8243	SMC1A	ORPHA:220386
HP:0001328	Specific learning disability	100151683	RNU4ATAC	ORPHA:2636
HP:0001328	Specific learning disability	22800	RRAS2	ORPHA:648
HP:0001328	Specific learning disability	867	CBL	ORPHA:648
HP:0001328	Specific learning disability	8216	LZTR1	ORPHA:648
HP:0001328	Specific learning disability	6016	RIT1	ORPHA:648
HP:0001328	Specific learning disability	6237	RRAS	ORPHA:648
HP:0001328	Specific learning disability	5894	RAF1	ORPHA:648
HP:0001328	Specific learning disability	22808	MRAS	ORPHA:648
HP:0001328	Specific learning disability	3845	KRAS	ORPHA:648
HP:0001328	Specific learning disability	200734	SPRED2	ORPHA:648
HP:0001328	Specific learning disability	4893	NRAS	ORPHA:648
HP:0001328	Specific learning disability	6654	SOS1	ORPHA:648
HP:0001328	Specific learning disability	6655	SOS2	ORPHA:648
HP:0001328	Specific learning disability	5781	PTPN11	ORPHA:648
HP:0001328	Specific learning disability	5922	RASA2	ORPHA:648
HP:0001328	Specific learning disability	23522	KAT6B	ORPHA:3047
HP:0001328	Specific learning disability	26123	TCTN3	ORPHA:2753
HP:0001328	Specific learning disability	71	ACTG1	ORPHA:2995
HP:0001328	Specific learning disability	60	ACTB	ORPHA:2995
HP:0001328	Specific learning disability	5286	PIK3C2A	ORPHA:557003
HP:0001328	Specific learning disability	4914	NTRK1	ORPHA:642
HP:0001328	Specific learning disability	23040	MYT1L	ORPHA:647799
HP:0001328	Specific learning disability	51109	RDH11	ORPHA:436245
HP:0001328	Specific learning disability	4281	MID1	ORPHA:2745
HP:0001328	Specific learning disability	3708	ITPR1	OMIM:206700
HP:0001328	Specific learning disability	55294	FBXW7	OMIM:620012
HP:0001328	Specific learning disability	5605	MAP2K2	ORPHA:638
HP:0001328	Specific learning disability	3762	KCNJ5	ORPHA:37553
HP:0001328	Specific learning disability	25978	CHMP2B	OMIM:600795
HP:0001328	Specific learning disability	25978	CHMP2B	ORPHA:275864
HP:0001328	Specific learning disability	1540	CYLD	OMIM:619132
HP:0001328	Specific learning disability	6736	SRY	ORPHA:1772
HP:0001328	Specific learning disability	5663	PSEN1	ORPHA:275864
HP:0001328	Specific learning disability	2896	GRN	ORPHA:275864
HP:0001328	Specific learning disability	54664	TMEM106B	ORPHA:275864
HP:0001328	Specific learning disability	8878	SQSTM1	ORPHA:275864
HP:0001328	Specific learning disability	8878	SQSTM1	ORPHA:275872
HP:0001328	Specific learning disability	4137	MAPT	ORPHA:275864
HP:0001328	Specific learning disability	54209	TREM2	ORPHA:275864
HP:0001328	Specific learning disability	7415	VCP	ORPHA:275864
HP:0001328	Specific learning disability	7415	VCP	ORPHA:275872
HP:0001328	Specific learning disability	7415	VCP	ORPHA:52430
HP:0001328	Specific learning disability	11284	PNKP	ORPHA:459033
HP:0001328	Specific learning disability	2521	FUS	ORPHA:275872
HP:0001328	Specific learning disability	23435	TARDBP	ORPHA:275872
HP:0001328	Specific learning disability	29110	TBK1	ORPHA:275872
HP:0001328	Specific learning disability	400916	CHCHD10	ORPHA:275872
HP:0001328	Specific learning disability	203228	C9orf72	OMIM:105550
HP:0001328	Specific learning disability	773	CACNA1A	OMIM:141500
HP:0001328	Specific learning disability	4131	MAP1B	OMIM:618918
HP:0001328	Specific learning disability	3178	HNRNPA1	ORPHA:52430
HP:0001328	Specific learning disability	3181	HNRNPA2B1	ORPHA:52430
HP:0001328	Specific learning disability	10297	APC2	ORPHA:821
HP:0001328	Specific learning disability	8398	PLA2G6	ORPHA:199351
HP:0001328	Specific learning disability	324	APC	ORPHA:261584
HP:0001328	Specific learning disability	80207	OPA3	ORPHA:67036
HP:0001328	Specific learning disability	123606	NIPA1	ORPHA:261183
HP:0001328	Specific learning disability	7283	TUBG1	ORPHA:261183
HP:0001328	Specific learning disability	81614	NIPA2	ORPHA:261183
HP:0001328	Specific learning disability	6711	SPTBN1	OMIM:619475
HP:0001328	Specific learning disability	1757	SARDH	ORPHA:3129
HP:0001328	Specific learning disability	6709	SPTAN1	OMIM:620528
HP:0001328	Specific learning disability	161582	DNAAF4	OMIM:127700
HP:0001328	Specific learning disability	6938	TCF12	OMIM:619718
HP:0001328	Specific learning disability	55187	VPS13D	ORPHA:95434
HP:0001328	Specific learning disability	27072	VPS41	ORPHA:95434
HP:0001328	Specific learning disability	84978	FRMD5	OMIM:620094
HP:0001328	Specific learning disability	6786	STIM1	OMIM:185070
HP:0001328	Specific learning disability	2729	GCLC	ORPHA:33574
HP:0001328	Specific learning disability	4854	NOTCH3	ORPHA:136
HP:0001328	Specific learning disability	3064	HTT	ORPHA:399
HP:0001328	Specific learning disability	6515	SLC2A3	ORPHA:399
HP:0001328	Specific learning disability	5718	PSMD12	ORPHA:529962
HP:0001328	Specific learning disability	2186	BPTF	ORPHA:529962
HP:0001328	Specific learning disability	23203	PMPCA	ORPHA:1170
HP:0001328	Specific learning disability	5575	PRKAR1B	ORPHA:412066
HP:0001328	Specific learning disability	3748	KCNC3	ORPHA:98768
HP:0001328	Specific learning disability	2006	ELN	OMIM:194050
HP:0001328	Specific learning disability	51085	MLXIPL	OMIM:194050
HP:0001328	Specific learning disability	51816	ADA2	ORPHA:820
HP:0012530	Abnormal number of dense granules	84343	HPS3	OMIM:614072
HP:0012530	Abnormal number of dense granules	89781	HPS4	OMIM:614073
HP:0012530	Abnormal number of dense granules	11234	HPS5	OMIM:614074
HP:0012530	Abnormal number of dense granules	8546	AP3B1	OMIM:608233
HP:0012530	Abnormal number of dense granules	79803	HPS6	OMIM:614075
HP:0012530	Abnormal number of dense granules	63915	BLOC1S5	OMIM:619172
HP:0012530	Abnormal number of dense granules	64376	IKZF5	OMIM:619130
HP:0012531	Pain	26191	PTPN22	ORPHA:397
HP:0012531	Pain	26191	PTPN22	ORPHA:900
HP:0012531	Pain	3106	HLA-B	ORPHA:397
HP:0012531	Pain	3106	HLA-B	ORPHA:117
HP:0012531	Pain	3106	HLA-B	ORPHA:29207
HP:0012531	Pain	3106	HLA-B	ORPHA:36426
HP:0012531	Pain	3123	HLA-DRB1	ORPHA:397
HP:0012531	Pain	3123	HLA-DRB1	ORPHA:85414
HP:0012531	Pain	8974	P4HA2	ORPHA:397
HP:0012531	Pain	171023	ASXL1	ORPHA:98850
HP:0012531	Pain	171023	ASXL1	ORPHA:98849
HP:0012531	Pain	54790	TET2	ORPHA:98850
HP:0012531	Pain	54790	TET2	ORPHA:98849
HP:0012531	Pain	867	CBL	ORPHA:98850
HP:0012531	Pain	861	RUNX1	ORPHA:98850
HP:0012531	Pain	6427	SRSF2	ORPHA:98850
HP:0012531	Pain	6427	SRSF2	ORPHA:98849
HP:0012531	Pain	90268	OTULIN	OMIM:617099
HP:0012531	Pain	144811	LACC1	ORPHA:85414
HP:0012531	Pain	4282	MIF	ORPHA:85414
HP:0012531	Pain	3569	IL6	ORPHA:85414
HP:0012531	Pain	3569	IL6	OMIM:266600
HP:0012531	Pain	229	ALDOB	OMIM:229600
HP:0012531	Pain	229	ALDOB	ORPHA:469
HP:0012531	Pain	8573	CASK	OMIM:300908
HP:0012531	Pain	2539	G6PD	OMIM:300908
HP:0012531	Pain	4598	MVK	OMIM:260920
HP:0012531	Pain	4598	MVK	ORPHA:343
HP:0012531	Pain	5009	OTC	OMIM:311250
HP:0012531	Pain	26873	OPLAH	OMIM:260005
HP:0012531	Pain	3815	KIT	ORPHA:98849
HP:0012531	Pain	3815	KIT	ORPHA:79455
HP:0012531	Pain	23417	MLYCD	OMIM:248360
HP:0012531	Pain	324	APC	ORPHA:99818
HP:0012531	Pain	324	APC	OMIM:619182
HP:0012531	Pain	324	APC	ORPHA:873
HP:0012531	Pain	5314	PKHD1	ORPHA:53035
HP:0012531	Pain	2038	EPB42	ORPHA:822
HP:0012531	Pain	6521	SLC4A1	ORPHA:822
HP:0012531	Pain	6521	SLC4A1	ORPHA:3202
HP:0012531	Pain	6710	SPTB	ORPHA:822
HP:0012531	Pain	6710	SPTB	ORPHA:288
HP:0012531	Pain	6708	SPTA1	ORPHA:822
HP:0012531	Pain	6708	SPTA1	ORPHA:288
HP:0012531	Pain	286	ANK1	ORPHA:822
HP:0012531	Pain	4072	EPCAM	ORPHA:144
HP:0012531	Pain	4292	MLH1	ORPHA:144
HP:0012531	Pain	5395	PMS2	ORPHA:144
HP:0012531	Pain	7048	TGFBR2	ORPHA:144
HP:0012531	Pain	3845	KRAS	ORPHA:144
HP:0012531	Pain	3845	KRAS	ORPHA:1333
HP:0012531	Pain	2956	MSH6	ORPHA:144
HP:0012531	Pain	5378	PMS1	ORPHA:144
HP:0012531	Pain	4436	MSH2	ORPHA:144
HP:0012531	Pain	215	ABCD1	ORPHA:388
HP:0012531	Pain	5979	RET	ORPHA:388
HP:0012531	Pain	2668	GDNF	ORPHA:388
HP:0012531	Pain	6608	SMO	ORPHA:388
HP:0012531	Pain	1889	ECE1	ORPHA:388
HP:0012531	Pain	6720	SREBF1	ORPHA:388
HP:0012531	Pain	1908	EDN3	ORPHA:388
HP:0012531	Pain	1908	EDN3	ORPHA:897
HP:0012531	Pain	223117	SEMA3D	ORPHA:388
HP:0012531	Pain	538	ATP7A	ORPHA:388
HP:0012531	Pain	1910	EDNRB	ORPHA:388
HP:0012531	Pain	1910	EDNRB	ORPHA:897
HP:0012531	Pain	10512	SEMA3C	ORPHA:388
HP:0012531	Pain	2064	ERBB2	ORPHA:388
HP:0012531	Pain	2065	ERBB3	ORPHA:388
HP:0012531	Pain	4902	NRTN	ORPHA:388
HP:0012531	Pain	4233	MET	ORPHA:33402
HP:0012531	Pain	1499	CTNNB1	ORPHA:33402
HP:0012531	Pain	1499	CTNNB1	ORPHA:1501
HP:0012531	Pain	1499	CTNNB1	ORPHA:873
HP:0012531	Pain	2130	EWSR1	ORPHA:83469
HP:0012531	Pain	7490	WT1	ORPHA:83469
HP:0012531	Pain	7490	WT1	ORPHA:654
HP:0012531	Pain	7490	WT1	ORPHA:656
HP:0012531	Pain	64218	SEMA4A	ORPHA:440437
HP:0012531	Pain	472	ATM	ORPHA:440437
HP:0012531	Pain	5426	POLE	ORPHA:440437
HP:0012531	Pain	675	BRCA2	ORPHA:440437
HP:0012531	Pain	675	BRCA2	ORPHA:70567
HP:0012531	Pain	675	BRCA2	ORPHA:654
HP:0012531	Pain	675	BRCA2	ORPHA:1333
HP:0012531	Pain	657	BMPR1A	ORPHA:440437
HP:0012531	Pain	657	BMPR1A	OMIM:174900
HP:0012531	Pain	657	BMPR1A	ORPHA:79076
HP:0012531	Pain	6224	RPS20	ORPHA:440437
HP:0012531	Pain	4595	MUTYH	ORPHA:440437
HP:0012531	Pain	5424	POLD1	ORPHA:440437
HP:0012531	Pain	672	BRCA1	ORPHA:168829
HP:0012531	Pain	672	BRCA1	ORPHA:70567
HP:0012531	Pain	672	BRCA1	ORPHA:1333
HP:0012531	Pain	10686	CLDN16	OMIM:248250
HP:0012531	Pain	5498	PPOX	OMIM:176200
HP:0012531	Pain	5498	PPOX	ORPHA:79473
HP:0012531	Pain	5428	POLG	ORPHA:298
HP:0012531	Pain	5428	POLG	OMIM:613662
HP:0012531	Pain	5428	POLG	OMIM:603041
HP:0012531	Pain	1890	TYMP	ORPHA:298
HP:0012531	Pain	1890	TYMP	OMIM:603041
HP:0012531	Pain	3980	LIG3	ORPHA:298
HP:0012531	Pain	50484	RRM2B	ORPHA:298
HP:0012531	Pain	2642	GCGR	OMIM:619290
HP:0012531	Pain	2642	GCGR	ORPHA:438274
HP:0012531	Pain	2859	GPR35	ORPHA:171
HP:0012531	Pain	10507	SEMA4D	ORPHA:171
HP:0012531	Pain	4485	MST1	ORPHA:171
HP:0012531	Pain	6925	TCF4	ORPHA:171
HP:0012531	Pain	4089	SMAD4	OMIM:174900
HP:0012531	Pain	4089	SMAD4	ORPHA:1333
HP:0012531	Pain	114548	NLRP3	ORPHA:47045
HP:0012531	Pain	114548	NLRP3	ORPHA:575
HP:0012531	Pain	353	APRT	OMIM:614723
HP:0012531	Pain	3717	JAK2	ORPHA:729
HP:0012531	Pain	3717	JAK2	ORPHA:131
HP:0012531	Pain	7132	TNFRSF1A	OMIM:142680
HP:0012531	Pain	7132	TNFRSF1A	ORPHA:32960
HP:0012531	Pain	6794	STK11	OMIM:175200
HP:0012531	Pain	6794	STK11	ORPHA:2869
HP:0012531	Pain	2492	FSHR	OMIM:608115
HP:0012531	Pain	2492	FSHR	ORPHA:64739
HP:0012531	Pain	3117	HLA-DQA1	OMIM:212750
HP:0012531	Pain	3119	HLA-DQB1	OMIM:212750
HP:0012531	Pain	7555	CNBP	ORPHA:606
HP:0012531	Pain	9570	GOSR2	OMIM:620166
HP:0012531	Pain	84133	ZNRF3	ORPHA:1501
HP:0012531	Pain	5573	PRKAR1A	ORPHA:1501
HP:0012531	Pain	5573	PRKAR1A	ORPHA:520
HP:0012531	Pain	1029	CDKN2A	ORPHA:1501
HP:0012531	Pain	1029	CDKN2A	ORPHA:1333
HP:0012531	Pain	7015	TERT	ORPHA:1501
HP:0012531	Pain	2035	EPB41	ORPHA:288
HP:0012531	Pain	2995	GYPC	ORPHA:288
HP:0012531	Pain	64127	NOD2	OMIM:617321
HP:0012531	Pain	64127	NOD2	OMIM:266600
HP:0012531	Pain	5728	PTEN	ORPHA:79076
HP:0012531	Pain	2984	GUCY2C	OMIM:614616
HP:0012531	Pain	1244	ABCC2	ORPHA:234
HP:0012531	Pain	330	BIRC3	ORPHA:52417
HP:0012531	Pain	10892	MALT1	ORPHA:52417
HP:0012531	Pain	27086	FOXP1	ORPHA:52417
HP:0012531	Pain	3492	IGH	ORPHA:52417
HP:0012531	Pain	8915	BCL10	ORPHA:52417
HP:0012531	Pain	22900	CARD8	OMIM:619079
HP:0012531	Pain	51604	PIGT	OMIM:615399
HP:0012531	Pain	540	ATP7B	ORPHA:905
HP:0012531	Pain	2321	FLT1	ORPHA:275555
HP:0012531	Pain	219736	STOX1	ORPHA:275555
HP:0012531	Pain	10699	CORIN	ORPHA:275555
HP:0012531	Pain	6804	STX1A	ORPHA:904
HP:0012531	Pain	7461	CLIP2	ORPHA:904
HP:0012531	Pain	84277	DNAJC30	ORPHA:904
HP:0012531	Pain	8468	FKBP6	ORPHA:904
HP:0012531	Pain	5982	RFC2	ORPHA:904
HP:0012531	Pain	2969	GTF2I	ORPHA:904
HP:0012531	Pain	3984	LIMK1	ORPHA:904
HP:0012531	Pain	9569	GTF2IRD1	ORPHA:904
HP:0012531	Pain	155382	VPS37D	ORPHA:904
HP:0012531	Pain	155368	METTL27	ORPHA:904
HP:0012531	Pain	114049	BUD23	ORPHA:904
HP:0012531	Pain	7458	EIF4H	ORPHA:904
HP:0012531	Pain	84163	GTF2IRD2	ORPHA:904
HP:0012531	Pain	26608	TBL2	ORPHA:904
HP:0012531	Pain	653361	NCF1	ORPHA:904
HP:0012531	Pain	135886	TMEM270	ORPHA:904
HP:0012531	Pain	9031	BAZ1B	ORPHA:904
HP:0012531	Pain	2006	ELN	ORPHA:904
HP:0012531	Pain	1493	CTLA4	ORPHA:900
HP:0012531	Pain	3115	HLA-DPB1	ORPHA:900
HP:0012531	Pain	5657	PRTN3	ORPHA:900
HP:0012531	Pain	3113	HLA-DPA1	ORPHA:900
HP:0012531	Pain	8659	ALDH4A1	ORPHA:79101
HP:0012531	Pain	84992	PIGY	OMIM:616809
HP:0012531	Pain	1080	CFTR	OMIM:167800
HP:0012531	Pain	1080	CFTR	ORPHA:676
HP:0012531	Pain	11330	CTRC	OMIM:167800
HP:0012531	Pain	11330	CTRC	ORPHA:676
HP:0012531	Pain	5645	PRSS2	OMIM:167800
HP:0012531	Pain	5645	PRSS2	ORPHA:676
HP:0012531	Pain	5644	PRSS1	OMIM:167800
HP:0012531	Pain	5644	PRSS1	ORPHA:676
HP:0012531	Pain	6690	SPINK1	OMIM:167800
HP:0012531	Pain	6690	SPINK1	ORPHA:676
HP:0012531	Pain	6690	SPINK1	OMIM:608189
HP:0012531	Pain	6774	STAT3	OMIM:147060
HP:0012531	Pain	6774	STAT3	ORPHA:520
HP:0012531	Pain	5205	ATP8B1	ORPHA:69665
HP:0012531	Pain	8647	ABCB11	ORPHA:69665
HP:0012531	Pain	5244	ABCB4	ORPHA:69665
HP:0012531	Pain	9971	NR1H4	ORPHA:69665
HP:0012531	Pain	6288	SAA1	ORPHA:85445
HP:0012531	Pain	11231	SEC63	ORPHA:2924
HP:0012531	Pain	5589	PRKCSH	ORPHA:2924
HP:0012531	Pain	4041	LRP5	ORPHA:2924
HP:0012531	Pain	1649	DDIT3	ORPHA:99967
HP:0012531	Pain	3662	IRF4	ORPHA:3452
HP:0012531	Pain	19	ABCA1	ORPHA:31150
HP:0012531	Pain	7234	TRU-TCA1-1	OMIM:620198
HP:0012531	Pain	9968	MED12	OMIM:301068
HP:0012531	Pain	811	CALR	ORPHA:131
HP:0012531	Pain	2153	F5	ORPHA:131
HP:0012531	Pain	2717	GLA	OMIM:301500
HP:0012531	Pain	2717	GLA	ORPHA:324
HP:0012531	Pain	5885	RAD21	OMIM:611376
HP:0012531	Pain	654	BMP6	ORPHA:465508
HP:0012531	Pain	3077	HFE	ORPHA:465508
HP:0012531	Pain	3077	HFE	OMIM:235200
HP:0012531	Pain	11181	TREH	ORPHA:103909
HP:0012531	Pain	11181	TREH	OMIM:612119
HP:0012531	Pain	9780	PIEZO1	ORPHA:3202
HP:0012531	Pain	3783	KCNN4	ORPHA:3202
HP:0012531	Pain	710	SERPING1	OMIM:106100
HP:0012531	Pain	710	SERPING1	ORPHA:100050
HP:0012531	Pain	64241	ABCG8	OMIM:210250
HP:0012531	Pain	10312	TCIRG1	ORPHA:486
HP:0012531	Pain	6728	SRP19	ORPHA:486
HP:0012531	Pain	1991	ELANE	ORPHA:486
HP:0012531	Pain	1991	ELANE	ORPHA:2686
HP:0012531	Pain	2672	GFI1	ORPHA:486
HP:0012531	Pain	81570	CLPB	ORPHA:486
HP:0012531	Pain	6476	SI	OMIM:222900
HP:0012531	Pain	6476	SI	ORPHA:35122
HP:0012531	Pain	2000	ELF4	OMIM:301074
HP:0012531	Pain	165918	RNF168	ORPHA:420741
HP:0012531	Pain	1188	CLCNKB	ORPHA:358
HP:0012531	Pain	6559	SLC12A3	ORPHA:358
HP:0012531	Pain	6559	SLC12A3	OMIM:263800
HP:0012531	Pain	4594	MMUT	ORPHA:79312
HP:0012531	Pain	2629	GBA1	ORPHA:77259
HP:0012531	Pain	950	SCARB2	ORPHA:77259
HP:0012531	Pain	149233	IL23R	ORPHA:117
HP:0012531	Pain	6775	STAT4	ORPHA:117
HP:0012531	Pain	6775	STAT4	ORPHA:93552
HP:0012531	Pain	3586	IL10	ORPHA:117
HP:0012531	Pain	1230	CCR1	ORPHA:117
HP:0012531	Pain	355	FAS	ORPHA:117
HP:0012531	Pain	3592	IL12A	ORPHA:117
HP:0012531	Pain	101928376	IL12A-AS1	ORPHA:117
HP:0012531	Pain	7099	TLR4	ORPHA:117
HP:0012531	Pain	3459	IFNGR1	ORPHA:117
HP:0012531	Pain	720	C4A	ORPHA:117
HP:0012531	Pain	337867	UBAC2	ORPHA:117
HP:0012531	Pain	51752	ERAP1	ORPHA:117
HP:0012531	Pain	8302	KLRC4	ORPHA:117
HP:0012531	Pain	4175	MCM6	OMIM:223100
HP:0012531	Pain	2767	GNA11	ORPHA:428
HP:0012531	Pain	846	CASR	ORPHA:428
HP:0012531	Pain	846	CASR	ORPHA:676
HP:0012531	Pain	6696	SPP1	ORPHA:93552
HP:0012531	Pain	6303	SAT1	ORPHA:93552
HP:0012531	Pain	3654	IRAK1	ORPHA:93552
HP:0012531	Pain	2057	EPOR	ORPHA:90042
HP:0012531	Pain	1776	DNASE1L3	ORPHA:36412
HP:0012531	Pain	53335	BCL11A	ORPHA:251380
HP:0012531	Pain	10661	KLF1	ORPHA:251380
HP:0012531	Pain	3047	HBG1	ORPHA:251380
HP:0012531	Pain	3048	HBG2	ORPHA:251380
HP:0012531	Pain	2258	FGF13	OMIM:301058
HP:0012531	Pain	4609	MYC	ORPHA:543
HP:0012531	Pain	23095	KIF1B	OMIM:256700
HP:0012531	Pain	5774	PTPN3	ORPHA:70567
HP:0012531	Pain	6098	ROS1	ORPHA:70567
HP:0012531	Pain	7248	TSC1	ORPHA:538
HP:0012531	Pain	7249	TSC2	ORPHA:538
HP:0012531	Pain	4286	MITF	ORPHA:897
HP:0012531	Pain	6663	SOX10	ORPHA:897
HP:0012531	Pain	6663	SOX10	ORPHA:163746
HP:0012531	Pain	5978	REST	ORPHA:654
HP:0012531	Pain	129563	DIS3L2	ORPHA:654
HP:0012531	Pain	9319	TRIP13	ORPHA:654
HP:0012531	Pain	10155	TRIM28	ORPHA:654
HP:0012531	Pain	11281	POU6F2	ORPHA:654
HP:0012531	Pain	2719	GPC3	ORPHA:654
HP:0012531	Pain	283120	H19	ORPHA:654
HP:0012531	Pain	4868	NPHS1	ORPHA:656
HP:0012531	Pain	23607	CD2AP	ORPHA:656
HP:0012531	Pain	9688	NUP93	ORPHA:656
HP:0012531	Pain	4643	MYO1E	ORPHA:656
HP:0012531	Pain	64423	INF2	ORPHA:656
HP:0012531	Pain	26130	GAPVD1	ORPHA:656
HP:0012531	Pain	57122	NUP107	ORPHA:656
HP:0012531	Pain	51479	ANKFY1	ORPHA:656
HP:0012531	Pain	54443	ANLN	ORPHA:656
HP:0012531	Pain	5800	PTPRO	ORPHA:656
HP:0012531	Pain	286204	CRB2	ORPHA:656
HP:0012531	Pain	23165	NUP205	ORPHA:656
HP:0012531	Pain	2013	EMP2	ORPHA:656
HP:0012531	Pain	79023	NUP37	ORPHA:656
HP:0012531	Pain	51196	PLCE1	ORPHA:656
HP:0012531	Pain	79902	NUP85	ORPHA:656
HP:0012531	Pain	1285	COL4A3	ORPHA:656
HP:0012531	Pain	396	ARHGDIA	ORPHA:656
HP:0012531	Pain	79934	COQ8B	ORPHA:656
HP:0012531	Pain	23279	NUP160	ORPHA:656
HP:0012531	Pain	9863	MAGI2	ORPHA:656
HP:0012531	Pain	81	ACTN4	ORPHA:656
HP:0012531	Pain	7225	TRPC6	ORPHA:656
HP:0012531	Pain	8542	APOL1	ORPHA:656
HP:0012531	Pain	54885	TBC1D8B	ORPHA:656
HP:0012531	Pain	7827	NPHS2	ORPHA:656
HP:0012531	Pain	83478	ARHGAP24	ORPHA:656
HP:0012531	Pain	23500	DAAM2	ORPHA:656
HP:0012531	Pain	5076	PAX2	ORPHA:656
HP:0012531	Pain	55746	NUP133	ORPHA:656
HP:0012531	Pain	10320	IKZF1	ORPHA:36426
HP:0012531	Pain	10616	RBCK1	OMIM:615895
HP:0012531	Pain	1760	DMPK	ORPHA:589821
HP:0012531	Pain	285282	RABL3	ORPHA:1333
HP:0012531	Pain	79728	PALB2	ORPHA:1333
HP:0012531	Pain	23022	PALLD	ORPHA:1333
HP:0012531	Pain	55503	TRPV6	ORPHA:676
HP:0012531	Pain	1357	CPA1	ORPHA:676
HP:0012531	Pain	650	BMP2	OMIM:235200
HP:0012531	Pain	54795	TRPM4	ORPHA:871
HP:0012531	Pain	1482	NKX2-5	ORPHA:871
HP:0012531	Pain	6324	SCN1B	ORPHA:871
HP:0012531	Pain	6331	SCN5A	ORPHA:871
HP:0012531	Pain	6390	SDHB	ORPHA:97286
HP:0012531	Pain	6391	SDHC	ORPHA:97286
HP:0012531	Pain	6392	SDHD	ORPHA:97286
HP:0012531	Pain	1053	CEBPE	OMIM:260570
HP:0012531	Pain	64840	PORCN	ORPHA:2092
HP:0012531	Pain	6711	SPTBN1	OMIM:619475
HP:0012531	Pain	3257	HPS1	OMIM:203300
HP:0012531	Pain	1056	CEL	OMIM:609812
HP:0012531	Pain	64711	HS3ST6	OMIM:619367
HP:0012531	Pain	10585	POMT1	ORPHA:86812
HP:0012531	Pain	51816	ADA2	OMIM:615688
HP:0012531	Pain	3075	CFH	ORPHA:244242
HP:0012531	Pain	3426	CFI	ORPHA:244242
HP:0012531	Pain	4179	CD46	ORPHA:244242
HP:0012531	Pain	101101692	HELLPAR	ORPHA:244242
HP:0012531	Pain	91662	NLRP12	OMIM:611762
HP:0012531	Pain	5294	PIK3CG	OMIM:619802
HP:0012531	Pain	3145	HMBS	OMIM:176000
HP:0012531	Pain	3145	HMBS	ORPHA:79276
HP:0012531	Pain	7428	VHL	ORPHA:892
HP:0012531	Pain	595	CCND1	ORPHA:892
HP:0012531	Pain	4221	MEN1	ORPHA:652
HP:0012531	Pain	1027	CDKN1B	ORPHA:652
HP:0012531	Pain	1026	CDKN1A	ORPHA:652
HP:0012531	Pain	1030	CDKN2B	ORPHA:652
HP:0012531	Pain	1031	CDKN2C	ORPHA:652
HP:0012531	Pain	55898	UNC45A	OMIM:619377
HP:0012531	Pain	210	ALAD	ORPHA:100924
HP:0012531	Pain	72	ACTG2	OMIM:155310
HP:0012531	Pain	1371	CPOX	OMIM:121300
HP:0012531	Pain	1371	CPOX	ORPHA:79273
HP:0012531	Pain	6850	SYK	OMIM:619381
HP:0012531	Pain	5371	PML	ORPHA:520
HP:0012531	Pain	5914	RARA	ORPHA:520
HP:0012531	Pain	359948	IRF2BP2	ORPHA:520
HP:0012531	Pain	81608	FIP1L1	ORPHA:520
HP:0012531	Pain	4869	NPM1	ORPHA:520
HP:0012531	Pain	54880	BCOR	ORPHA:520
HP:0012531	Pain	64859	NABP1	ORPHA:520
HP:0012531	Pain	6777	STAT5B	ORPHA:520
HP:0012531	Pain	4926	NUMA1	ORPHA:520
HP:0012531	Pain	7704	ZBTB16	ORPHA:520
HP:0012531	Pain	79718	TBL1XR1	ORPHA:520
HP:0012531	Pain	1604	CD55	OMIM:226300
HP:0012531	Pain	8737	RIPK1	OMIM:618852
HP:0012531	Pain	115286	SLC25A26	OMIM:616794
HP:0012531	Pain	4689	NCF4	OMIM:613960
HP:0012531	Pain	7388	UQCRH	OMIM:620137
HP:0012531	Pain	2693	GHSR	ORPHA:314811
HP:0012531	Pain	4067	LYN	OMIM:620376
HP:0012531	Pain	87178	PNPT1	ORPHA:101111
HP:0012531	Pain	10020	GNE	ORPHA:3166
HP:0012531	Pain	4023	LPL	OMIM:238600
HP:0012531	Pain	2099	ESR1	ORPHA:785
HP:0012531	Pain	56246	MRAP	ORPHA:361
HP:0012531	Pain	6770	STAR	ORPHA:361
HP:0012531	Pain	4158	MC2R	ORPHA:361
HP:0012531	Pain	23530	NNT	ORPHA:361
HP:0012531	Pain	10587	TXNRD2	ORPHA:361
HP:0012531	Pain	546	ATRX	ORPHA:100075
HP:0012531	Pain	3074	HEXB	OMIM:268800
HP:0012531	Pain	2161	F12	OMIM:610618
HP:0012531	Pain	9663	LPIN2	OMIM:609628
HP:0012531	Pain	9663	LPIN2	ORPHA:77297
HP:0012531	Pain	7421	VDR	ORPHA:93160
HP:0012531	Pain	7421	VDR	OMIM:277440
HP:0012531	Pain	2778	GNAS	OMIM:174800
HP:0012531	Pain	2778	GNAS	ORPHA:562
HP:0012531	Pain	2778	GNAS	ORPHA:2762
HP:0012531	Pain	2778	GNAS	ORPHA:57782
HP:0012531	Pain	23592	LEMD3	ORPHA:166119
HP:0012531	Pain	652	BMP4	ORPHA:828
HP:0012531	Pain	1186	CLCN7	ORPHA:667
HP:0012531	Pain	1186	CLCN7	ORPHA:53
HP:0012531	Pain	29887	SNX10	ORPHA:667
HP:0012531	Pain	8600	TNFSF11	ORPHA:667
HP:0012531	Pain	5604	MAP2K1	ORPHA:389
HP:0012531	Pain	4893	NRAS	ORPHA:389
HP:0012531	Pain	673	BRAF	ORPHA:389
HP:0012531	Pain	79577	CDC73	ORPHA:143
HP:0012531	Pain	79577	CDC73	ORPHA:99880
HP:0012531	Pain	8792	TNFRSF11A	OMIM:174810
HP:0012531	Pain	8792	TNFRSF11A	OMIM:602080
HP:0012531	Pain	1184	CLCN5	OMIM:300009
HP:0012531	Pain	1184	CLCN5	OMIM:300554
HP:0012531	Pain	3248	HPGD	ORPHA:217059
HP:0012531	Pain	3248	HPGD	ORPHA:2796
HP:0012531	Pain	120227	CYP2R1	OMIM:600081
HP:0012531	Pain	120227	CYP2R1	ORPHA:289157
HP:0012531	Pain	5251	PHEX	OMIM:307800
HP:0012531	Pain	5251	PHEX	ORPHA:89936
HP:0012531	Pain	5745	PTH1R	ORPHA:296
HP:0012531	Pain	3418	IDH2	ORPHA:296
HP:0012531	Pain	3418	IDH2	ORPHA:163634
HP:0012531	Pain	3417	IDH1	ORPHA:296
HP:0012531	Pain	3417	IDH1	ORPHA:163634
HP:0012531	Pain	6578	SLCO2A1	ORPHA:2796
HP:0012531	Pain	1175	AP2S1	OMIM:600740
HP:0012531	Pain	1594	CYP27B1	OMIM:264700
HP:0012531	Pain	1594	CYP27B1	ORPHA:289157
HP:0012531	Pain	7010	TEK	ORPHA:1059
HP:0012531	Pain	7471	WNT1	ORPHA:85193
HP:0012531	Pain	22943	DKK1	ORPHA:85193
HP:0012531	Pain	89780	WNT3A	ORPHA:85193
HP:0012531	Pain	4853	NOTCH2	ORPHA:955
HP:0012531	Pain	5660	PSAP	OMIM:610539
HP:0012531	Pain	1588	CYP19A1	ORPHA:91
HP:0012531	Pain	8074	FGF23	ORPHA:89937
HP:0012531	Pain	8074	FGF23	OMIM:193100
HP:0012531	Pain	142680	SLC34A3	OMIM:241530
HP:0012531	Pain	142680	SLC34A3	ORPHA:157215
HP:0012531	Pain	5781	PTPN11	ORPHA:2499
HP:0012531	Pain	189	AGXT	OMIM:259900
HP:0012531	Pain	7305	TYROBP	ORPHA:2770
HP:0012531	Pain	7040	TGFB1	ORPHA:1328
HP:0012531	Pain	7227	TRPS1	ORPHA:502
HP:0012531	Pain	5345	SERPINF2	ORPHA:79
HP:0012531	Pain	6569	SLC34A1	OMIM:613388
HP:0012531	Pain	6569	SLC34A1	ORPHA:3337
HP:0012531	Pain	6569	SLC34A1	ORPHA:157215
HP:0012531	Pain	1962	EHHADH	ORPHA:3337
HP:0012531	Pain	2628	GATM	ORPHA:3337
HP:0012531	Pain	137682	NDUFAF6	ORPHA:3337
HP:0012531	Pain	3554	IL1R1	OMIM:259680
HP:0012531	Pain	1758	DMP1	ORPHA:289176
HP:0012531	Pain	5167	ENPP1	ORPHA:289176
HP:0012531	Pain	79158	GNPTAB	ORPHA:423461
HP:0012531	Pain	57592	ZNF687	OMIM:616833
HP:0012531	Pain	5696	PSMB8	OMIM:256040
HP:0012531	Pain	4613	MYCN	ORPHA:635
HP:0012531	Pain	238	ALK	ORPHA:635
HP:0012531	Pain	389421	LIN28B	ORPHA:635
HP:0012531	Pain	4004	LMO1	ORPHA:635
HP:0012531	Pain	57531	HACE1	ORPHA:635
HP:0012531	Pain	8929	PHOX2B	ORPHA:635
HP:0012531	Pain	50964	SOST	OMIM:269500
HP:0012531	Pain	6399	TRAPPC2	ORPHA:93284
HP:0012531	Pain	6399	TRAPPC2	OMIM:313400
HP:0012531	Pain	7148	TNXB	ORPHA:230839
HP:0012531	Pain	7148	TNXB	OMIM:606408
HP:0012531	Pain	3560	IL2RB	ORPHA:85408
HP:0012531	Pain	79722	ANKRD55	ORPHA:85408
HP:0012531	Pain	919	CD247	ORPHA:85408
HP:0012531	Pain	3559	IL2RA	ORPHA:85408
HP:0012531	Pain	5771	PTPN2	ORPHA:85408
HP:0012531	Pain	30061	SLC40A1	OMIM:606069
HP:0012531	Pain	1300	COL10A1	ORPHA:174
HP:0012531	Pain	84572	GNPTG	OMIM:252605
HP:0012531	Pain	1280	COL2A1	OMIM:616583
HP:0012531	Pain	1280	COL2A1	ORPHA:2380
HP:0012531	Pain	1280	COL2A1	ORPHA:90653
HP:0012531	Pain	1280	COL2A1	OMIM:108300
HP:0012531	Pain	1280	COL2A1	OMIM:604864
HP:0012531	Pain	1280	COL2A1	OMIM:609162
HP:0012531	Pain	1280	COL2A1	ORPHA:166100
HP:0012531	Pain	1280	COL2A1	OMIM:183900
HP:0012531	Pain	9469	CHST3	OMIM:143095
HP:0012531	Pain	9469	CHST3	ORPHA:263463
HP:0012531	Pain	340061	STING1	OMIM:615934
HP:0012531	Pain	84823	LMNB2	ORPHA:79087
HP:0012531	Pain	83550	GPR101	ORPHA:963
HP:0012531	Pain	83550	GPR101	OMIM:300942
HP:0012531	Pain	9049	AIP	ORPHA:963
HP:0012531	Pain	1289	COL5A1	ORPHA:287
HP:0012531	Pain	1290	COL5A2	ORPHA:287
HP:0012531	Pain	1302	COL11A2	OMIM:184840
HP:0012531	Pain	1302	COL11A2	OMIM:215150
HP:0012531	Pain	1302	COL11A2	ORPHA:166100
HP:0012531	Pain	1836	SLC26A2	OMIM:226900
HP:0012531	Pain	1836	SLC26A2	ORPHA:93307
HP:0012531	Pain	58484	NLRC4	OMIM:616115
HP:0012531	Pain	58484	NLRC4	OMIM:616050
HP:0012531	Pain	2783	GNB2	OMIM:619503
HP:0012531	Pain	51284	TLR7	OMIM:301080
HP:0012531	Pain	1311	COMP	OMIM:177170
HP:0012531	Pain	1311	COMP	ORPHA:750
HP:0012531	Pain	715	C1R	OMIM:130080
HP:0012531	Pain	8838	CCN6	ORPHA:1159
HP:0012531	Pain	5336	PLCG2	OMIM:614878
HP:0012531	Pain	5692	PSMB4	OMIM:617591
HP:0012531	Pain	2157	F8	ORPHA:169805
HP:0012531	Pain	2157	F8	ORPHA:169802
HP:0012531	Pain	4087	SMAD2	OMIM:619656
HP:0012531	Pain	100151683	RNU4ATAC	ORPHA:1824
HP:0012531	Pain	6583	SLC22A4	OMIM:180300
HP:0012531	Pain	4261	CIITA	OMIM:180300
HP:0012531	Pain	51744	CD244	OMIM:180300
HP:0012531	Pain	4795	NFKBIL1	OMIM:180300
HP:0012531	Pain	3514	IGKC	ORPHA:183675
HP:0012531	Pain	3501	IGHG2	ORPHA:183675
HP:0012531	Pain	4313	MMP2	OMIM:259600
HP:0012531	Pain	3081	HGD	ORPHA:56
HP:0012531	Pain	3081	HGD	OMIM:203500
HP:0012531	Pain	10801	SEPTIN9	ORPHA:2901
HP:0012531	Pain	6307	MSMO1	OMIM:616834
HP:0012531	Pain	2068	ERCC2	ORPHA:910
HP:0012531	Pain	7507	XPA	ORPHA:910
HP:0012531	Pain	2071	ERCC3	ORPHA:910
HP:0012531	Pain	7508	XPC	ORPHA:910
HP:0012531	Pain	1643	DDB2	ORPHA:910
HP:0012531	Pain	2072	ERCC4	ORPHA:910
HP:0012531	Pain	2073	ERCC5	ORPHA:910
HP:0012531	Pain	411	ARSB	OMIM:253200
HP:0012531	Pain	7317	UBA1	OMIM:301054
HP:0012531	Pain	4000	LMNA	ORPHA:90153
HP:0012531	Pain	3949	LDLR	ORPHA:391665
HP:0012531	Pain	255738	PCSK9	ORPHA:391665
HP:0012531	Pain	26119	LDLRAP1	ORPHA:391665
HP:0012531	Pain	338	APOB	ORPHA:391665
HP:0012531	Pain	64240	ABCG5	ORPHA:391665
HP:0012531	Pain	64240	ABCG5	ORPHA:2882
HP:0012531	Pain	427	ASAH1	ORPHA:333
HP:0012531	Pain	427	ASAH1	OMIM:228000
HP:0012531	Pain	4621	MYH3	OMIM:193700
HP:0012531	Pain	3930	LBR	OMIM:613471
HP:0012531	Pain	29940	DSE	OMIM:615539
HP:0012531	Pain	11145	PLAAT3	OMIM:620683
HP:0012531	Pain	713	C1QB	OMIM:620321
HP:0012531	Pain	1301	COL11A1	ORPHA:560
HP:0012531	Pain	23495	TNFRSF13B	ORPHA:1572
HP:0012531	Pain	4790	NFKB1	ORPHA:1572
HP:0012531	Pain	4791	NFKB2	ORPHA:1572
HP:0012531	Pain	115650	TNFRSF13C	ORPHA:1572
HP:0012531	Pain	1380	CR2	ORPHA:1572
HP:0012531	Pain	8742	TNFSF12	ORPHA:1572
HP:0012531	Pain	930	CD19	ORPHA:1572
HP:0012531	Pain	29851	ICOS	ORPHA:1572
HP:0012531	Pain	931	MS4A1	ORPHA:1572
HP:0012531	Pain	975	CD81	ORPHA:1572
HP:0012531	Pain	975	CD81	OMIM:613496
HP:0012531	Pain	6424	SFRP4	OMIM:265900
HP:0012531	Pain	716	C1S	OMIM:617174
HP:0012531	Pain	368	ABCC6	ORPHA:51608
HP:0012531	Pain	55325	UFSP2	OMIM:617974
HP:0012531	Pain	91461	PKDCC	OMIM:618821
HP:0012531	Pain	65992	DDRGK1	ORPHA:93352
HP:0012531	Pain	1314	COPA	OMIM:616414
HP:0012531	Pain	3557	IL1RN	OMIM:612852
HP:0012531	Pain	4148	MATN3	OMIM:607078
HP:0012531	Pain	50515	CHST11	OMIM:618167
HP:0012531	Pain	51371	POMP	OMIM:618048
HP:0012531	Pain	3593	IL12B	ORPHA:3287
HP:0012531	Pain	6945	MLX	ORPHA:3287
HP:0012531	Pain	11277	TREX1	OMIM:610448
HP:0012531	Pain	6609	SMPD1	OMIM:607616
HP:0012531	Pain	118429	ANTXR2	OMIM:228600
HP:0012531	Pain	2512	FTL	ORPHA:254704
HP:0012531	Pain	1291	COL6A1	OMIM:158810
HP:0012531	Pain	9051	PSTPIP1	ORPHA:69126
HP:0012531	Pain	1297	COL9A1	OMIM:614135
HP:0012531	Pain	1235	CCR6	ORPHA:220393
HP:0012531	Pain	1490	CCN2	ORPHA:220393
HP:0012531	Pain	3663	IRF5	ORPHA:220393
HP:0012531	Pain	857	CAV1	ORPHA:220393
HP:0012531	Pain	9935	MAFB	OMIM:166300
HP:0012531	Pain	54829	ASPN	OMIM:607850
HP:0012531	Pain	4982	TNFRSF11B	ORPHA:1416
HP:0012531	Pain	56172	ANKH	ORPHA:1416
HP:0012531	Pain	374654	KIF7	ORPHA:166024
HP:0012531	Pain	246243	RNASEH1	ORPHA:329336
HP:0012531	Pain	246243	RNASEH1	OMIM:616479
HP:0012531	Pain	60684	TRAPPC11	OMIM:615356
HP:0012531	Pain	60684	TRAPPC11	ORPHA:369840
HP:0012531	Pain	60684	TRAPPC11	ORPHA:369847
HP:0012531	Pain	4625	MYH7	ORPHA:59135
HP:0012531	Pain	4625	MYH7	OMIM:160500
HP:0012531	Pain	6840	SVIL	OMIM:619040
HP:0012531	Pain	1763	DNA2	ORPHA:352470
HP:0012531	Pain	1763	DNA2	OMIM:615156
HP:0012531	Pain	729920	CRPPA	ORPHA:352479
HP:0012531	Pain	729920	CRPPA	ORPHA:370980
HP:0012531	Pain	79147	FKRP	OMIM:607155
HP:0012531	Pain	79147	FKRP	OMIM:606612
HP:0012531	Pain	79147	FKRP	ORPHA:370980
HP:0012531	Pain	55034	MOCOS	OMIM:603592
HP:0012531	Pain	1340	COX6B1	OMIM:619051
HP:0012531	Pain	55154	MSTO1	OMIM:617675
HP:0012531	Pain	55154	MSTO1	ORPHA:502423
HP:0012531	Pain	9692	PRORP	OMIM:619737
HP:0012531	Pain	1716	DGUOK	ORPHA:329314
HP:0012531	Pain	5468	PPARG	ORPHA:79083
HP:0012531	Pain	9499	MYOT	OMIM:609200
HP:0012531	Pain	2332	FMR1	ORPHA:93256
HP:0012531	Pain	2332	FMR1	OMIM:300623
HP:0012531	Pain	11107	PRDM5	OMIM:614170
HP:0012531	Pain	11107	PRDM5	ORPHA:90354
HP:0012531	Pain	844	CASQ1	OMIM:616231
HP:0012531	Pain	844	CASQ1	ORPHA:2593
HP:0012531	Pain	11232	POLG2	OMIM:610131
HP:0012531	Pain	11232	POLG2	ORPHA:254892
HP:0012531	Pain	28976	ACAD9	ORPHA:99901
HP:0012531	Pain	5255	PHKA1	ORPHA:715
HP:0012531	Pain	5260	PHKG1	ORPHA:715
HP:0012531	Pain	54	ACP5	ORPHA:1855
HP:0012531	Pain	7840	ALMS1	ORPHA:64
HP:0012531	Pain	1180	CLCN1	OMIM:255700
HP:0012531	Pain	1180	CLCN1	OMIM:160800
HP:0012531	Pain	1180	CLCN1	ORPHA:614
HP:0012531	Pain	23175	LPIN1	OMIM:268200
HP:0012531	Pain	11149	POPDC1	OMIM:616812
HP:0012531	Pain	11128	POLR3A	ORPHA:3455
HP:0012531	Pain	84627	ZNF469	ORPHA:90354
HP:0012531	Pain	57104	PNPLA2	OMIM:610717
HP:0012531	Pain	57104	PNPLA2	ORPHA:98908
HP:0012531	Pain	270	AMPD1	ORPHA:45
HP:0012531	Pain	272	AMPD3	ORPHA:45
HP:0012531	Pain	487	ATP2A1	OMIM:601003
HP:0012531	Pain	2318	FLNC	ORPHA:171445
HP:0012531	Pain	859	CAV3	OMIM:123320
HP:0012531	Pain	859	CAV3	ORPHA:488650
HP:0012531	Pain	5213	PFKM	OMIM:232800
HP:0012531	Pain	84876	ORAI1	ORPHA:2593
HP:0012531	Pain	6786	STIM1	ORPHA:2593
HP:0012531	Pain	6786	STIM1	OMIM:185070
HP:0012531	Pain	4556	MT-TE	ORPHA:2596
HP:0012531	Pain	3339	HSPG2	ORPHA:800
HP:0012531	Pain	226	ALDOA	ORPHA:57
HP:0012531	Pain	5256	PHKA2	ORPHA:264580
HP:0012531	Pain	5261	PHKG2	ORPHA:264580
HP:0012531	Pain	1376	CPT2	OMIM:255110
HP:0012531	Pain	1376	CPT2	ORPHA:228302
HP:0012531	Pain	1376	CPT2	ORPHA:228305
HP:0012531	Pain	79628	SH3TC2	ORPHA:99949
HP:0012531	Pain	284119	CAVIN1	OMIM:613327
HP:0012531	Pain	8291	DYSF	ORPHA:45448
HP:0012531	Pain	4001	LMNB1	ORPHA:99027
HP:0012531	Pain	291	SLC25A4	ORPHA:254892
HP:0012531	Pain	291	SLC25A4	OMIM:615418
HP:0012531	Pain	56652	TWNK	ORPHA:254892
HP:0012531	Pain	56652	TWNK	OMIM:609286
HP:0012531	Pain	5888	RAD51	ORPHA:238722
HP:0012531	Pain	10126	DNAL4	ORPHA:238722
HP:0012531	Pain	9423	NTN1	ORPHA:238722
HP:0012531	Pain	1630	DCC	ORPHA:238722
HP:0012531	Pain	5156	PDGFRA	OMIM:607685
HP:0012531	Pain	3032	HADHB	OMIM:620300
HP:0012531	Pain	3032	HADHB	ORPHA:746
HP:0012531	Pain	10049	DNAJB6	OMIM:603511
HP:0012531	Pain	3939	LDHA	OMIM:612933
HP:0012531	Pain	2027	ENO3	OMIM:612932
HP:0012531	Pain	2710	GK	OMIM:307030
HP:0012531	Pain	10059	DNM1L	ORPHA:98673
HP:0012531	Pain	4976	OPA1	ORPHA:98673
HP:0012531	Pain	7084	TK2	ORPHA:254875
HP:0012531	Pain	51116	MRPS2	OMIM:617950
HP:0012531	Pain	4358	MPV17	OMIM:256810
HP:0012531	Pain	64856	VWA1	OMIM:619216
HP:0012531	Pain	825	CAPN3	OMIM:618129
HP:0012531	Pain	5257	PHKB	ORPHA:79240
HP:0012531	Pain	1312	COMT	ORPHA:567
HP:0012531	Pain	221037	JMJD1C	ORPHA:567
HP:0012531	Pain	2812	GP1BB	ORPHA:567
HP:0012531	Pain	6239	RREB1	ORPHA:567
HP:0012531	Pain	6899	TBX1	ORPHA:567
HP:0012531	Pain	7290	HIRA	ORPHA:567
HP:0012531	Pain	9632	SEC24C	ORPHA:567
HP:0012531	Pain	7353	UFD1	ORPHA:567
HP:0012531	Pain	421	ARVCF	ORPHA:567
HP:0012531	Pain	4566	MT-TK	ORPHA:1349
HP:0012531	Pain	4547	MTTP	ORPHA:14
HP:0012531	Pain	55863	TMEM126B	OMIM:618250
HP:0012531	Pain	112812	FDX2	OMIM:251900
HP:0012531	Pain	2218	FKTN	ORPHA:370980
HP:0012531	Pain	29967	LRP12	OMIM:620452
HP:0012531	Pain	1756	DMD	ORPHA:98895
HP:0012531	Pain	1756	DMD	OMIM:300376
HP:0012531	Pain	1756	DMD	ORPHA:206546
HP:0012531	Pain	3030	HADHA	ORPHA:746
HP:0012531	Pain	3030	HADHA	OMIM:609015
HP:0012531	Pain	84033	OBSCN	OMIM:620235
HP:0012531	Pain	6389	SDHA	OMIM:619259
HP:0012531	Pain	4194	MDM4	OMIM:618849
HP:0012531	Pain	124093	CCDC78	OMIM:614807
HP:0012531	Pain	84842	HPDL	OMIM:619027
HP:0012531	Pain	125170	MIEF2	OMIM:619024
HP:0012531	Pain	3156	HMGCR	OMIM:620375
HP:0012531	Pain	203859	ANO5	OMIM:611307
HP:0012531	Pain	203859	ANO5	ORPHA:206549
HP:0012531	Pain	5654	HTRA1	ORPHA:199354
HP:0012531	Pain	9842	PLEKHM1	ORPHA:210110
HP:0012531	Pain	84265	POLR3GL	OMIM:619234
HP:0012531	Pain	579	NKX3-2	OMIM:613330
HP:0012531	Pain	4010	LMX1B	ORPHA:2614
HP:0012531	Pain	4010	LMX1B	OMIM:161200
HP:0012531	Pain	8314	BAP1	ORPHA:2495
HP:0012531	Pain	84231	TRAF7	ORPHA:2495
HP:0012531	Pain	207	AKT1	ORPHA:2495
HP:0012531	Pain	51684	SUFU	ORPHA:2495
HP:0012531	Pain	6605	SMARCE1	ORPHA:2495
HP:0012531	Pain	56606	SLC2A9	ORPHA:94088
HP:0012531	Pain	116085	SLC22A12	ORPHA:94088
HP:0012531	Pain	145873	MESP2	OMIM:277300
HP:0012531	Pain	10683	DLL3	OMIM:277300
HP:0012531	Pain	2273	FHL1	OMIM:300696
HP:0012531	Pain	2273	FHL1	ORPHA:98863
HP:0012531	Pain	2010	EMD	ORPHA:98863
HP:0012531	Pain	81839	VANGL1	OMIM:600145
HP:0012531	Pain	9096	TBX18	OMIM:143400
HP:0012531	Pain	2313	FLI1	ORPHA:370348
HP:0012531	Pain	79188	TMEM43	ORPHA:98853
HP:0012531	Pain	23345	SYNE1	ORPHA:98853
HP:0012531	Pain	23224	SYNE2	ORPHA:98853
HP:0012531	Pain	9897	WASHC5	OMIM:603563
HP:0012531	Pain	165	AEBP1	OMIM:618000
HP:0012531	Pain	4665	NAB2	ORPHA:2126
HP:0012531	Pain	6778	STAT6	ORPHA:2126
HP:0012531	Pain	6683	SPAST	OMIM:182601
HP:0012531	Pain	7486	WRN	OMIM:277700
HP:0012531	Pain	4803	NGF	OMIM:608654
HP:0012531	Pain	6911	TBX6	OMIM:122600
HP:0012531	Pain	5832	ALDH18A1	ORPHA:447753
HP:0012531	Pain	34	ACADM	ORPHA:42
HP:0012531	Pain	6261	RYR1	OMIM:255320
HP:0012531	Pain	6261	RYR1	ORPHA:169189
HP:0012531	Pain	6261	RYR1	OMIM:619542
HP:0012531	Pain	22954	TRIM32	OMIM:254110
HP:0012531	Pain	7169	TPM2	OMIM:609285
HP:0012531	Pain	5837	PYGM	OMIM:232600
HP:0012531	Pain	5837	PYGM	ORPHA:368
HP:0012531	Pain	274	BIN1	ORPHA:169189
HP:0012531	Pain	64419	MTMR14	ORPHA:169189
HP:0012531	Pain	4618	MYF6	ORPHA:169189
HP:0012531	Pain	1785	DNM2	ORPHA:169189
HP:0012531	Pain	5224	PGAM2	OMIM:261670
HP:0012531	Pain	27145	FILIP1	OMIM:620775
HP:0012531	Pain	90523	MLIP	OMIM:620138
HP:0012531	Pain	284439	SLC25A42	OMIM:618416
HP:0012531	Pain	4512	MT-CO1	ORPHA:99845
HP:0012531	Pain	4514	MT-CO3	ORPHA:99845
HP:0012531	Pain	5230	PGK1	ORPHA:713
HP:0012531	Pain	10861	SLC26A1	OMIM:620372
HP:0012531	Pain	8575	PRKRA	OMIM:612067
HP:0012531	Pain	2335	FN1	ORPHA:93315
HP:0012531	Pain	10558	SPTLC1	ORPHA:36386
HP:0012531	Pain	25923	ATL3	ORPHA:36386
HP:0012531	Pain	9517	SPTLC2	ORPHA:36386
HP:0012531	Pain	51062	ATL1	ORPHA:36386
HP:0012531	Pain	8694	DGAT1	OMIM:615863
HP:0012531	Pain	3852	KRT5	ORPHA:79400
HP:0012531	Pain	3861	KRT14	ORPHA:79400
HP:0012531	Pain	9997	SCO2	OMIM:604377
HP:0012531	Pain	4508	MT-ATP6	ORPHA:320360
HP:0012531	Pain	6687	SPG7	ORPHA:99013
HP:0012531	Pain	10613	ERLIN1	ORPHA:401785
HP:0012531	Pain	4669	NAGLU	OMIM:616491
HP:0012531	Pain	341208	HEPHL1	OMIM:261990
HP:0012531	Pain	3868	KRT16	ORPHA:2309
HP:0012531	Pain	3872	KRT17	ORPHA:2309
HP:0012531	Pain	3853	KRT6A	ORPHA:2309
HP:0012531	Pain	3854	KRT6B	ORPHA:2309
HP:0012531	Pain	6335	SCN9A	OMIM:133020
HP:0012531	Pain	3043	HBB	ORPHA:232
HP:0012531	Pain	55768	NGLY1	OMIM:615273
HP:0012531	Pain	8106	PABPN1	ORPHA:270
HP:0012531	Pain	80207	OPA3	ORPHA:67036
HP:0012531	Pain	11280	SCN11A	OMIM:615552
HP:0012531	Pain	9927	MFN2	OMIM:609260
HP:0012531	Pain	83706	FERMT3	OMIM:612840
HP:0012531	Pain	4035	LRP1	ORPHA:79100
HP:0012531	Pain	7157	TP53	ORPHA:668
HP:0012531	Pain	5925	RB1	ORPHA:668
HP:0012531	Pain	11200	CHEK2	ORPHA:668
HP:0012531	Pain	7373	COL14A1	ORPHA:79501
HP:0012531	Pain	79719	AAGAB	ORPHA:79501
HP:0012531	Pain	4311	MME	ORPHA:497764
HP:0012531	Pain	79587	CARS2	ORPHA:477774
HP:0012531	Pain	130340	AP1S3	ORPHA:247353
HP:0012531	Pain	26525	IL36RN	ORPHA:247353
HP:0012531	Pain	10229	COQ7	OMIM:616733
HP:0012531	Pain	3035	HARS1	ORPHA:488333
HP:0012531	Pain	1277	COL1A1	ORPHA:31112
HP:0012531	Pain	5155	PDGFB	ORPHA:31112
HP:0012531	Pain	2304	FOXE1	ORPHA:319487
HP:0012531	Pain	3026	HABP2	ORPHA:319487
HP:0012531	Pain	9562	MINPP1	ORPHA:319487
HP:0012531	Pain	9630	GNA14	ORPHA:1063
HP:0012531	Pain	339855	KY	ORPHA:496689
HP:0012531	Pain	5290	PIK3CA	ORPHA:140944
HP:0012531	Pain	847	CAT	ORPHA:926
HP:0012531	Pain	5921	RASA1	ORPHA:90307
HP:0012531	Pain	4210	MEFV	ORPHA:3243
HP:0012531	Pain	5777	PTPN6	ORPHA:3243
HP:0012531	Pain	25978	CHMP2B	ORPHA:803
HP:0012531	Pain	3178	HNRNPA1	ORPHA:803
HP:0012531	Pain	8148	TAF15	ORPHA:803
HP:0012531	Pain	5445	PON2	ORPHA:803
HP:0012531	Pain	9217	VAPB	ORPHA:803
HP:0012531	Pain	8878	SQSTM1	ORPHA:803
HP:0012531	Pain	5630	PRPH	ORPHA:803
HP:0012531	Pain	29110	TBK1	ORPHA:803
HP:0012531	Pain	55830	GLT8D1	ORPHA:803
HP:0012531	Pain	755	CFAP410	ORPHA:803
HP:0012531	Pain	10891	PPARGC1A	ORPHA:803
HP:0012531	Pain	6647	SOD1	ORPHA:803
HP:0012531	Pain	10133	OPTN	ORPHA:803
HP:0012531	Pain	1639	DCTN1	ORPHA:803
HP:0012531	Pain	9896	FIG4	ORPHA:803
HP:0012531	Pain	5444	PON1	ORPHA:803
HP:0012531	Pain	5446	PON3	ORPHA:803
HP:0012531	Pain	4744	NEFH	ORPHA:803
HP:0012531	Pain	5216	PFN1	ORPHA:803
HP:0012531	Pain	9782	MATR3	ORPHA:803
HP:0012531	Pain	54209	TREM2	ORPHA:803
HP:0012531	Pain	7415	VCP	ORPHA:803
HP:0012531	Pain	283	ANG	ORPHA:803
HP:0012531	Pain	23435	TARDBP	ORPHA:803
HP:0012531	Pain	29978	UBQLN2	ORPHA:803
HP:0012531	Pain	2733	GLE1	ORPHA:803
HP:0012531	Pain	2521	FUS	ORPHA:803
HP:0012531	Pain	4750	NEK1	ORPHA:803
HP:0012531	Pain	6311	ATXN2	ORPHA:803
HP:0012531	Pain	1610	DAO	ORPHA:803
HP:0012531	Pain	2066	ERBB4	ORPHA:803
HP:0012531	Pain	311	ANXA11	ORPHA:803
HP:0012531	Pain	23025	UNC13A	ORPHA:803
HP:0012531	Pain	899	CCNF	ORPHA:803
HP:0012531	Pain	400916	CHCHD10	ORPHA:803
HP:0012531	Pain	8131	NPRL3	ORPHA:98820
HP:0012531	Pain	10641	NPRL2	ORPHA:98820
HP:0012531	Pain	9681	DEPDC5	ORPHA:98820
HP:0012531	Pain	9203	ZMYM3	OMIM:301111
HP:0012531	Pain	2131	EXT1	ORPHA:321
HP:0012531	Pain	2132	EXT2	ORPHA:321
HP:0012531	Pain	37	ACADVL	ORPHA:26793
HP:0012531	Pain	6329	SCN4A	ORPHA:681
HP:0012531	Pain	779	CACNA1S	ORPHA:681
HP:0012531	Pain	10008	KCNE3	ORPHA:681
HP:0012531	Pain	51308	REEP2	ORPHA:401849
HP:0012531	Pain	65998	ZFTA	ORPHA:251636
HP:0012531	Pain	4771	NF2	ORPHA:93921
HP:0012531	Pain	6598	SMARCB1	ORPHA:93921
HP:0012531	Pain	51004	COQ6	ORPHA:93921
HP:0012531	Pain	8216	LZTR1	ORPHA:93921
HP:0012531	Pain	26834	RNU4-2	OMIM:620851
HP:0012531	Pain	4763	NF1	ORPHA:97685
HP:0012531	Pain	112817	HOGA1	ORPHA:93600
HP:0012531	Pain	1513	CTSK	ORPHA:763
HP:0012531	Pain	4312	MMP1	ORPHA:79408
HP:0012531	Pain	1294	COL7A1	ORPHA:79408
HP:0012531	Pain	4287	ATXN3	OMIM:109150
HP:0012531	Pain	28982	FLVCR1	ORPHA:88628
HP:0012531	Pain	7543	ZFX	OMIM:301118
HP:0012531	Pain	7042	TGFB2	OMIM:614816
HP:0012531	Pain	22947	DUX4L1	ORPHA:269
HP:0012531	Pain	1789	DNMT3B	ORPHA:269
HP:0012531	Pain	2483	FRG1	ORPHA:269
HP:0012531	Pain	23347	SMCHD1	ORPHA:269
HP:0012531	Pain	100288687	DUX4	ORPHA:269
HP:0012531	Pain	6336	SCN10A	ORPHA:90026
HP:0012531	Pain	1298	COL9A2	OMIM:600204
HP:0012531	Pain	51726	DNAJB11	ORPHA:730
HP:0012531	Pain	23193	GANAB	ORPHA:730
HP:0012531	Pain	5310	PKD1	ORPHA:730
HP:0012531	Pain	5311	PKD2	ORPHA:730
HP:0012531	Pain	29880	ALG5	ORPHA:730
HP:0012531	Pain	9742	IFT140	ORPHA:730
HP:0012531	Pain	79796	ALG9	ORPHA:730
HP:0012531	Pain	80114	BICC1	ORPHA:730
HP:0012531	Pain	4352	MPL	ORPHA:824
HP:0012531	Pain	4914	NTRK1	ORPHA:642
HP:0012531	Pain	9573	GDF3	ORPHA:2345
HP:0012531	Pain	392255	GDF6	ORPHA:2345
HP:0012531	Pain	4222	MEOX1	ORPHA:2345
HP:0012531	Pain	4796	TONSL	ORPHA:93357
HP:0012531	Pain	567	B2M	ORPHA:314652
HP:0012531	Pain	5376	PMP22	ORPHA:101081
HP:0012531	Pain	10269	ZMPSTE24	ORPHA:740
HP:0012531	Pain	59341	TRPV4	ORPHA:86820
HP:0012531	Pain	26580	BSCL2	ORPHA:100998
HP:0012531	Pain	3181	HNRNPA2B1	ORPHA:52430
HP:0012531	Pain	90	ACVR1	ORPHA:337
HP:0012531	Pain	3373	HYAL1	OMIM:601492
HP:0012531	Pain	10804	GJB6	ORPHA:477
HP:0012531	Pain	2706	GJB2	ORPHA:477
HP:0012531	Pain	1299	COL9A3	OMIM:600969
HP:0012531	Pain	1299	COL9A3	ORPHA:166002
HP:0012531	Pain	4322	MMP13	OMIM:250400
HP:0012531	Pain	123624	AGBL1	ORPHA:98974
HP:0012531	Pain	83959	SLC4A11	ORPHA:98974
HP:0012531	Pain	10019	SH2B3	ORPHA:3318
HP:0012531	Pain	5277	PIGA	ORPHA:447
HP:0012531	Pain	7045	TGFBI	ORPHA:98960
HP:0012531	Pain	8989	TRPA1	OMIM:615040
HP:0012531	Pain	3110	MNX1	ORPHA:1552
HP:0012531	Pain	5621	PRNP	ORPHA:280397
HP:0012531	Pain	3425	IDUA	OMIM:607015
HP:0012531	Pain	1528	CYB5A	ORPHA:90796
HP:0012531	Pain	1586	CYP17A1	ORPHA:90796
HP:0012531	Pain	3481	IGF2	ORPHA:397590
HP:0012531	Pain	1028	CDKN1C	ORPHA:397590
HP:0012531	Pain	5324	PLAG1	ORPHA:397590
HP:0012531	Pain	8091	HMGA2	ORPHA:397590
HP:0012531	Pain	84168	ANTXR1	ORPHA:2067
HP:0012531	Pain	7066	THPO	ORPHA:71493
HP:0012531	Pain	8675	STX16	ORPHA:94089
HP:0012531	Pain	1829	DSG2	OMIM:610193
HP:0012531	Pain	70	ACTC1	OMIM:612098
HP:0012531	Pain	9244	CRLF1	ORPHA:930
HP:0012531	Pain	4842	NOS1	ORPHA:930
HP:0012531	Pain	1281	COL3A1	OMIM:130050
HP:0012531	Pain	3753	KCNE1	ORPHA:334
HP:0012531	Pain	2702	GJA5	ORPHA:334
HP:0012531	Pain	3760	KCNJ3	ORPHA:334
HP:0012531	Pain	3762	KCNJ5	ORPHA:334
HP:0012531	Pain	4635	MYL4	ORPHA:334
HP:0012531	Pain	10060	ABCC9	ORPHA:334
HP:0012531	Pain	137814	NKX2-6	ORPHA:334
HP:0012531	Pain	4878	NPPA	ORPHA:334
HP:0012531	Pain	55800	SCN3B	ORPHA:334
HP:0012531	Pain	9992	KCNE2	ORPHA:334
HP:0012531	Pain	2626	GATA4	ORPHA:334
HP:0012531	Pain	2627	GATA6	ORPHA:334
HP:0012531	Pain	5308	PITX2	ORPHA:334
HP:0012531	Pain	6327	SCN2B	ORPHA:334
HP:0012531	Pain	140628	GATA5	ORPHA:334
HP:0012531	Pain	3759	KCNJ2	ORPHA:334
HP:0012531	Pain	3784	KCNQ1	ORPHA:334
HP:0012531	Pain	6330	SCN4B	ORPHA:334
HP:0012531	Pain	3741	KCNA5	ORPHA:334
HP:0012531	Pain	7273	TTN	ORPHA:334
HP:0012531	Pain	9631	NUP155	ORPHA:334
HP:0012531	Pain	2022	ENG	OMIM:187300
HP:0012531	Pain	4633	MYL2	OMIM:608758
HP:0012531	Pain	56244	BTNL2	OMIM:612387
HP:0012531	Pain	56244	BTNL2	ORPHA:797
HP:0012531	Pain	1000	CDH2	OMIM:618920
HP:0012531	Pain	5350	PLN	OMIM:613874
HP:0012531	Pain	1788	DNMT3A	ORPHA:276621
HP:0012531	Pain	2034	EPAS1	ORPHA:276621
HP:0012531	Pain	7134	TNNC1	OMIM:613243
HP:0012531	Pain	1621	DBH	ORPHA:230
HP:0012531	Pain	4607	MYBPC3	OMIM:115197
HP:0012531	Pain	51422	PRKAG2	OMIM:600858
HP:0012531	Pain	6340	SCNN1G	ORPHA:60033
HP:0012531	Pain	6337	SCNN1A	ORPHA:60033
HP:0012531	Pain	6338	SCNN1B	ORPHA:60033
HP:0012531	Pain	1743	DLST	ORPHA:29072
HP:0012531	Pain	4191	MDH2	ORPHA:29072
HP:0012531	Pain	2271	FH	ORPHA:29072
HP:0012531	Pain	8402	SLC25A11	ORPHA:29072
HP:0012531	Pain	54949	SDHAF2	ORPHA:29072
HP:0012531	Pain	55654	TMEM127	ORPHA:29072
HP:0012531	Pain	4149	MAX	ORPHA:29072
HP:0012531	Pain	7454	WAS	ORPHA:906
HP:0012531	Pain	7456	WIPF1	ORPHA:906
HP:0012531	Pain	6049	RNF6	ORPHA:99977
HP:0012531	Pain	51741	WWOX	ORPHA:99977
HP:0012531	Pain	9940	DLEC1	ORPHA:99977
HP:0012531	Pain	4629	MYH11	ORPHA:229
HP:0012531	Pain	4629	MYH11	ORPHA:91387
HP:0012531	Pain	171019	ADAMTS19	OMIM:620067
HP:0012531	Pain	27068	PPA2	OMIM:617223
HP:0012531	Pain	4205	MEF2A	OMIM:608320
HP:0012531	Pain	10568	SLC34A2	ORPHA:60025
HP:0012531	Pain	54344	DPM3	ORPHA:263494
HP:0012531	Pain	7046	TGFBR1	ORPHA:91387
HP:0012531	Pain	4015	LOX	ORPHA:91387
HP:0012531	Pain	7043	TGFB3	ORPHA:91387
HP:0012531	Pain	4088	SMAD3	ORPHA:91387
HP:0012531	Pain	2200	FBN1	ORPHA:91387
HP:0012531	Pain	59	ACTA2	ORPHA:91387
HP:0012531	Pain	5592	PRKG1	ORPHA:91387
HP:0012531	Pain	2301	FOXE3	ORPHA:91387
HP:0012531	Pain	4144	MAT2A	ORPHA:91387
HP:0012531	Pain	23493	HEY2	ORPHA:91387
HP:0012531	Pain	8076	MFAP5	ORPHA:91387
HP:0012531	Pain	4638	MYLK	ORPHA:91387
HP:0012531	Pain	79875	THSD4	ORPHA:91387
HP:0012531	Pain	1288	COL4A6	ORPHA:1018
HP:0012531	Pain	1287	COL4A5	ORPHA:1018
HP:0012531	Pain	4166	CHST6	ORPHA:98969
HP:0012531	Pain	1308	COL17A1	ORPHA:293381
HP:0012531	Pain	1308	COL17A1	OMIM:122400
HP:0012531	Pain	57105	CYSLTR2	ORPHA:39044
HP:0012531	Pain	2776	GNAQ	ORPHA:39044
HP:0012531	Pain	2776	GNAQ	ORPHA:3205
HP:0012531	Pain	23451	SF3B1	ORPHA:39044
HP:0012531	Pain	1497	CTNS	ORPHA:411634
HP:0012531	Pain	23516	SLC39A14	OMIM:144755
HP:0012531	Pain	4070	TACSTD2	ORPHA:98957
HP:0012531	Pain	6935	ZEB1	ORPHA:98973
HP:0012531	Pain	30813	VSX1	ORPHA:98973
HP:0012531	Pain	58495	OVOL2	ORPHA:98973
HP:0012531	Pain	79977	GRHL2	ORPHA:98973
HP:0012531	Pain	1296	COL8A2	ORPHA:98973
HP:0012532	Chronic pain	1513	CTSK	ORPHA:763
HP:0012532	Chronic pain	4312	MMP1	ORPHA:79408
HP:0012532	Chronic pain	1294	COL7A1	ORPHA:79408
HP:0012532	Chronic pain	4287	ATXN3	OMIM:109150
HP:0012532	Chronic pain	28982	FLVCR1	ORPHA:88628
HP:0012532	Chronic pain	7543	ZFX	OMIM:301118
HP:0012532	Chronic pain	7042	TGFB2	OMIM:614816
HP:0012532	Chronic pain	22947	DUX4L1	ORPHA:269
HP:0012532	Chronic pain	1789	DNMT3B	ORPHA:269
HP:0012532	Chronic pain	2483	FRG1	ORPHA:269
HP:0012532	Chronic pain	23347	SMCHD1	ORPHA:269
HP:0012532	Chronic pain	100288687	DUX4	ORPHA:269
HP:0012533	Allodynia	6335	SCN9A	ORPHA:90026
HP:0012533	Allodynia	11280	SCN11A	ORPHA:90026
HP:0012533	Allodynia	6336	SCN10A	ORPHA:90026
HP:0012533	Allodynia	1890	TYMP	OMIM:603041
HP:0012533	Allodynia	5428	POLG	OMIM:603041
HP:0012534	Dysesthesia	5621	PRNP	ORPHA:356
HP:0012534	Dysesthesia	6389	SDHA	OMIM:619259
HP:0012534	Dysesthesia	6336	SCN10A	OMIM:615551
HP:0012534	Dysesthesia	6336	SCN10A	ORPHA:90026
HP:0012534	Dysesthesia	114548	NLRP3	ORPHA:47045
HP:0012534	Dysesthesia	84504	NKX6-2	ORPHA:527497
HP:0012534	Dysesthesia	215	ABCD1	ORPHA:139399
HP:0012534	Dysesthesia	6335	SCN9A	ORPHA:90026
HP:0012534	Dysesthesia	11280	SCN11A	ORPHA:90026
HP:0012534	Dysesthesia	113189	CHST14	ORPHA:2953
HP:0012534	Dysesthesia	113189	CHST14	OMIM:601776
HP:0012534	Dysesthesia	29940	DSE	ORPHA:2953
HP:0012534	Dysesthesia	22943	DKK1	ORPHA:268882
HP:0012534	Dysesthesia	8659	ALDH4A1	ORPHA:79101
HP:0012534	Dysesthesia	27286	SRPX2	ORPHA:1945
HP:0012534	Dysesthesia	2903	GRIN2A	ORPHA:1945
HP:0012534	Dysesthesia	2566	GABRG2	ORPHA:1945
HP:0012534	Dysesthesia	2332	FMR1	ORPHA:93256
HP:0012534	Dysesthesia	9517	SPTLC2	OMIM:613640
HP:0012534	Dysesthesia	65998	ZFTA	ORPHA:251636
HP:0012534	Dysesthesia	9409	PEX16	OMIM:614877
HP:0012534	Dysesthesia	5376	PMP22	ORPHA:98916
HP:0012534	Dysesthesia	81790	RNF170	OMIM:608984
HP:0012535	Abnormal synaptic transmission	1103	CHAT	OMIM:254210
HP:0012535	Abnormal synaptic transmission	1145	CHRNE	OMIM:605809
HP:0012535	Abnormal synaptic transmission	8292	COLQ	ORPHA:98915
HP:0012535	Abnormal synaptic transmission	3913	LAMB2	ORPHA:98915
HP:0012535	Abnormal synaptic transmission	1134	CHRNA1	OMIM:608930
HP:0012535	Abnormal synaptic transmission	1134	CHRNA1	ORPHA:98913
HP:0012535	Abnormal synaptic transmission	6329	SCN4A	ORPHA:98913
HP:0012535	Abnormal synaptic transmission	4038	LRP4	ORPHA:98913
HP:0012535	Abnormal synaptic transmission	1305	COL13A1	ORPHA:98913
HP:0012535	Abnormal synaptic transmission	1140	CHRNB1	ORPHA:98913
HP:0012535	Abnormal synaptic transmission	1144	CHRND	ORPHA:98913
HP:0012535	Abnormal synaptic transmission	1144	CHRND	OMIM:616321
HP:0012535	Abnormal synaptic transmission	4593	MUSK	ORPHA:98913
HP:0012535	Abnormal synaptic transmission	5913	RAPSN	ORPHA:98913
HP:0012535	Abnormal synaptic transmission	375790	AGRN	ORPHA:98913
HP:0012535	Abnormal synaptic transmission	221264	AK9	ORPHA:98913
HP:0012535	Abnormal synaptic transmission	285489	DOK7	ORPHA:98913
HP:0012535	Abnormal synaptic transmission	5339	PLEC	ORPHA:257
HP:0012535	Abnormal synaptic transmission	34	ACADM	ORPHA:42
HP:0012535	Abnormal synaptic transmission	844	CASQ1	ORPHA:2593
HP:0012535	Abnormal synaptic transmission	84876	ORAI1	ORPHA:2593
HP:0012535	Abnormal synaptic transmission	6786	STIM1	ORPHA:2593
HP:0012535	Abnormal synaptic transmission	2767	GNA11	ORPHA:428
HP:0012535	Abnormal synaptic transmission	846	CASR	ORPHA:428
HP:0012535	Abnormal synaptic transmission	6261	RYR1	ORPHA:424107
HP:0012535	Abnormal synaptic transmission	60482	SLC5A7	OMIM:617143
HP:0012535	Abnormal synaptic transmission	60482	SLC5A7	ORPHA:98914
HP:0012535	Abnormal synaptic transmission	10568	SLC34A2	ORPHA:60025
HP:0012535	Abnormal synaptic transmission	6576	SLC25A1	OMIM:618197
HP:0012535	Abnormal synaptic transmission	6576	SLC25A1	ORPHA:98914
HP:0012535	Abnormal synaptic transmission	6616	SNAP25	OMIM:616330
HP:0012535	Abnormal synaptic transmission	6616	SNAP25	ORPHA:98914
HP:0012535	Abnormal synaptic transmission	4649	MYO9A	ORPHA:98914
HP:0012535	Abnormal synaptic transmission	6843	VAMP1	ORPHA:98914
HP:0012535	Abnormal synaptic transmission	127833	SYT2	ORPHA:98914
HP:0012535	Abnormal synaptic transmission	6572	SLC18A3	ORPHA:98914
HP:0012535	Abnormal synaptic transmission	28976	ACAD9	ORPHA:99901
HP:0012535	Abnormal synaptic transmission	29925	GMPPB	ORPHA:353327
HP:0012535	Abnormal synaptic transmission	2673	GFPT1	ORPHA:353327
HP:0012535	Abnormal synaptic transmission	1798	DPAGT1	ORPHA:353327
HP:0012535	Abnormal synaptic transmission	85365	ALG2	ORPHA:353327
HP:0012535	Abnormal synaptic transmission	199857	ALG14	ORPHA:353327
HP:0012535	Abnormal synaptic transmission	4534	MTM1	ORPHA:596
HP:0012535	Abnormal synaptic transmission	1674	DES	ORPHA:98909
HP:0012535	Abnormal synaptic transmission	84665	MYPN	ORPHA:171439
HP:0012535	Abnormal synaptic transmission	58	ACTA1	ORPHA:171439
HP:0012535	Abnormal synaptic transmission	58	ACTA1	ORPHA:2020
HP:0012535	Abnormal synaptic transmission	7169	TPM2	ORPHA:171439
HP:0012535	Abnormal synaptic transmission	7169	TPM2	ORPHA:2020
HP:0012535	Abnormal synaptic transmission	390594	KBTBD13	ORPHA:171439
HP:0012535	Abnormal synaptic transmission	4703	NEB	ORPHA:171439
HP:0012535	Abnormal synaptic transmission	10324	KLHL41	ORPHA:171439
HP:0012535	Abnormal synaptic transmission	7170	TPM3	ORPHA:171439
HP:0012535	Abnormal synaptic transmission	7170	TPM3	ORPHA:2020
HP:0012535	Abnormal synaptic transmission	57190	SELENON	ORPHA:2020
HP:0012535	Abnormal synaptic transmission	4633	MYL2	ORPHA:2020
HP:0012535	Abnormal synaptic transmission	3679	ITGA7	ORPHA:2020
HP:0012535	Abnormal synaptic transmission	9200	HACD1	ORPHA:2020
HP:0012535	Abnormal synaptic transmission	51776	MAP3K20	ORPHA:2020
HP:0012535	Abnormal synaptic transmission	25978	CHMP2B	ORPHA:803
HP:0012535	Abnormal synaptic transmission	3178	HNRNPA1	ORPHA:803
HP:0012535	Abnormal synaptic transmission	8148	TAF15	ORPHA:803
HP:0012535	Abnormal synaptic transmission	5445	PON2	ORPHA:803
HP:0012535	Abnormal synaptic transmission	9217	VAPB	ORPHA:803
HP:0012535	Abnormal synaptic transmission	8878	SQSTM1	ORPHA:803
HP:0012535	Abnormal synaptic transmission	5630	PRPH	ORPHA:803
HP:0012535	Abnormal synaptic transmission	29110	TBK1	ORPHA:803
HP:0012535	Abnormal synaptic transmission	55830	GLT8D1	ORPHA:803
HP:0012535	Abnormal synaptic transmission	755	CFAP410	ORPHA:803
HP:0012535	Abnormal synaptic transmission	10891	PPARGC1A	ORPHA:803
HP:0012535	Abnormal synaptic transmission	6647	SOD1	ORPHA:803
HP:0012535	Abnormal synaptic transmission	10133	OPTN	ORPHA:803
HP:0012535	Abnormal synaptic transmission	1639	DCTN1	ORPHA:803
HP:0012535	Abnormal synaptic transmission	9896	FIG4	ORPHA:803
HP:0012535	Abnormal synaptic transmission	5444	PON1	ORPHA:803
HP:0012535	Abnormal synaptic transmission	5446	PON3	ORPHA:803
HP:0012535	Abnormal synaptic transmission	4744	NEFH	ORPHA:803
HP:0012535	Abnormal synaptic transmission	5216	PFN1	ORPHA:803
HP:0012535	Abnormal synaptic transmission	9782	MATR3	ORPHA:803
HP:0012535	Abnormal synaptic transmission	54209	TREM2	ORPHA:803
HP:0012535	Abnormal synaptic transmission	7415	VCP	ORPHA:803
HP:0012535	Abnormal synaptic transmission	283	ANG	ORPHA:803
HP:0012535	Abnormal synaptic transmission	23435	TARDBP	ORPHA:803
HP:0012535	Abnormal synaptic transmission	29978	UBQLN2	ORPHA:803
HP:0012535	Abnormal synaptic transmission	2733	GLE1	ORPHA:803
HP:0012535	Abnormal synaptic transmission	2521	FUS	ORPHA:803
HP:0012535	Abnormal synaptic transmission	4750	NEK1	ORPHA:803
HP:0012535	Abnormal synaptic transmission	6311	ATXN2	ORPHA:803
HP:0012535	Abnormal synaptic transmission	1610	DAO	ORPHA:803
HP:0012535	Abnormal synaptic transmission	2066	ERBB4	ORPHA:803
HP:0012535	Abnormal synaptic transmission	311	ANXA11	ORPHA:803
HP:0012535	Abnormal synaptic transmission	23025	UNC13A	ORPHA:803
HP:0012535	Abnormal synaptic transmission	899	CCNF	ORPHA:803
HP:0012535	Abnormal synaptic transmission	400916	CHCHD10	ORPHA:803
HP:0012535	Abnormal synaptic transmission	353116	RILPL1	ORPHA:98897
HP:0012535	Abnormal synaptic transmission	10755	GIPC1	ORPHA:98897
HP:0012535	Abnormal synaptic transmission	29967	LRP12	ORPHA:98897
HP:0012535	Abnormal synaptic transmission	100996717	NOTCH2NLC	ORPHA:98897
HP:0012535	Abnormal synaptic transmission	122622	ADSS1	ORPHA:482601
HP:0012535	Abnormal synaptic transmission	55768	NGLY1	ORPHA:404454
HP:0012535	Abnormal synaptic transmission	22943	DKK1	ORPHA:268882
HP:0012535	Abnormal synaptic transmission	84334	COA8	ORPHA:436271
HP:0012535	Abnormal synaptic transmission	84033	OBSCN	ORPHA:99845
HP:0012535	Abnormal synaptic transmission	23175	LPIN1	ORPHA:99845
HP:0012535	Abnormal synaptic transmission	4512	MT-CO1	ORPHA:99845
HP:0012535	Abnormal synaptic transmission	4514	MT-CO3	ORPHA:99845
HP:0012535	Abnormal synaptic transmission	50484	RRM2B	ORPHA:329336
HP:0012535	Abnormal synaptic transmission	246243	RNASEH1	ORPHA:329336
HP:0012535	Abnormal synaptic transmission	779	CACNA1S	ORPHA:681
HP:0012535	Abnormal synaptic transmission	10008	KCNE3	ORPHA:681
HP:0012535	Abnormal synaptic transmission	56203	LMOD3	ORPHA:171436
HP:0012535	Abnormal synaptic transmission	1073	CFL2	ORPHA:171436
HP:0012535	Abnormal synaptic transmission	51305	KCNK9	ORPHA:166108
HP:0012535	Abnormal synaptic transmission	79147	FKRP	ORPHA:370968
HP:0012535	Abnormal synaptic transmission	29954	POMT2	ORPHA:370968
HP:0012535	Abnormal synaptic transmission	29954	POMT2	ORPHA:206559
HP:0012535	Abnormal synaptic transmission	9215	LARGE1	ORPHA:370968
HP:0012535	Abnormal synaptic transmission	10585	POMT1	ORPHA:370968
HP:0012535	Abnormal synaptic transmission	114034	TOE1	ORPHA:284339
HP:0012535	Abnormal synaptic transmission	9562	MINPP1	ORPHA:284339
HP:0012535	Abnormal synaptic transmission	11155	LDB3	ORPHA:98912
HP:0012535	Abnormal synaptic transmission	3094	HINT1	ORPHA:324442
HP:0012535	Abnormal synaptic transmission	10342	TFG	ORPHA:90117
HP:0012535	Abnormal synaptic transmission	2318	FLNC	ORPHA:63273
HP:0012535	Abnormal synaptic transmission	84196	USP48	ORPHA:96253
HP:0012535	Abnormal synaptic transmission	7157	TP53	ORPHA:96253
HP:0012535	Abnormal synaptic transmission	9101	USP8	ORPHA:96253
HP:0012535	Abnormal synaptic transmission	64072	CDH23	ORPHA:96253
HP:0012535	Abnormal synaptic transmission	2908	NR3C1	ORPHA:96253
HP:0012535	Abnormal synaptic transmission	673	BRAF	ORPHA:96253
HP:0012535	Abnormal synaptic transmission	546	ATRX	ORPHA:96253
HP:0012535	Abnormal synaptic transmission	23345	SYNE1	ORPHA:319332
HP:0012537	Food intolerance	79827	CLMP	OMIM:615237
HP:0012537	Food intolerance	2592	GALT	ORPHA:79239
HP:0012537	Food intolerance	10195	ALG3	OMIM:601110
HP:0012537	Food intolerance	171023	ASXL1	ORPHA:97297
HP:0012537	Food intolerance	55898	UNC45A	OMIM:619377
HP:0012537	Food intolerance	84342	COG8	ORPHA:95428
HP:0012537	Food intolerance	2006	ELN	OMIM:194050
HP:0012537	Food intolerance	51085	MLXIPL	OMIM:194050
HP:0012537	Food intolerance	10847	SRCAP	ORPHA:2044
HP:0012538	Gluten intolerance	10847	SRCAP	ORPHA:2044
HP:0012539	Non-Hodgkin lymphoma	2956	MSH6	OMIM:619097
HP:0012539	Non-Hodgkin lymphoma	5426	POLE	OMIM:618336
HP:0012539	Non-Hodgkin lymphoma	4683	NBN	ORPHA:647
HP:0012539	Non-Hodgkin lymphoma	57217	TTC7A	OMIM:243150
HP:0012539	Non-Hodgkin lymphoma	6850	SYK	OMIM:619381
HP:0012539	Non-Hodgkin lymphoma	1729	DIAPH1	ORPHA:477814
HP:0012539	Non-Hodgkin lymphoma	595	CCND1	ORPHA:52416
HP:0012539	Non-Hodgkin lymphoma	3492	IGH	ORPHA:52416
HP:0012539	Non-Hodgkin lymphoma	3492	IGH	ORPHA:52417
HP:0012539	Non-Hodgkin lymphoma	330	BIRC3	ORPHA:52417
HP:0012539	Non-Hodgkin lymphoma	10892	MALT1	ORPHA:52417
HP:0012539	Non-Hodgkin lymphoma	27086	FOXP1	ORPHA:52417
HP:0012539	Non-Hodgkin lymphoma	8915	BCL10	ORPHA:52417
HP:0012539	Non-Hodgkin lymphoma	84061	MAGT1	OMIM:300853
HP:0012539	Non-Hodgkin lymphoma	23149	FCHO1	OMIM:619164
HP:0012539	Non-Hodgkin lymphoma	3702	ITK	OMIM:613011
HP:0012539	Non-Hodgkin lymphoma	100	ADA	OMIM:102700
HP:0012539	Non-Hodgkin lymphoma	5788	PTPRC	OMIM:619924
HP:0012539	Non-Hodgkin lymphoma	5295	PIK3R1	OMIM:616005
HP:0012539	Non-Hodgkin lymphoma	10125	RASGRP1	OMIM:618534
HP:0012539	Non-Hodgkin lymphoma	22806	IKZF3	OMIM:619437
HP:0012539	Non-Hodgkin lymphoma	6778	STAT6	OMIM:620532
HP:0012539	Non-Hodgkin lymphoma	4773	NFATC2	OMIM:620232
HP:0012539	Non-Hodgkin lymphoma	1493	CTLA4	ORPHA:3162
HP:0012539	Non-Hodgkin lymphoma	1493	CTLA4	ORPHA:2584
HP:0012539	Non-Hodgkin lymphoma	940	CD28	ORPHA:3162
HP:0012539	Non-Hodgkin lymphoma	940	CD28	ORPHA:2584
HP:0012539	Non-Hodgkin lymphoma	7133	TNFRSF1B	ORPHA:3162
HP:0012539	Non-Hodgkin lymphoma	7133	TNFRSF1B	ORPHA:2584
HP:0012539	Non-Hodgkin lymphoma	50485	SMARCAL1	ORPHA:1830
HP:0012539	Non-Hodgkin lymphoma	472	ATM	OMIM:208900
HP:0012539	Non-Hodgkin lymphoma	355	FAS	ORPHA:3261
HP:0012539	Non-Hodgkin lymphoma	356	FASLG	ORPHA:3261
HP:0012539	Non-Hodgkin lymphoma	843	CASP10	ORPHA:3261
HP:0012539	Non-Hodgkin lymphoma	4292	MLH1	OMIM:276300
HP:0012539	Non-Hodgkin lymphoma	7157	TP53	ORPHA:524
HP:0012539	Non-Hodgkin lymphoma	1029	CDKN2A	ORPHA:524
HP:0012539	Non-Hodgkin lymphoma	4193	MDM2	ORPHA:524
HP:0012539	Non-Hodgkin lymphoma	11200	CHEK2	ORPHA:524
HP:0012539	Non-Hodgkin lymphoma	4913	NTHL1	ORPHA:454840
HP:0012539	Non-Hodgkin lymphoma	5395	PMS2	OMIM:619101
HP:0012539	Non-Hodgkin lymphoma	399	RHOH	OMIM:618307
HP:0012539	Non-Hodgkin lymphoma	4068	SH2D1A	OMIM:308240
HP:0012539	Non-Hodgkin lymphoma	331	XIAP	OMIM:308240
HP:0012539	Non-Hodgkin lymphoma	4609	MYC	OMIM:113970
HP:0012539	Non-Hodgkin lymphoma	84868	HAVCR2	OMIM:618398
HP:0007236	Recurrent subcortical infarcts	4854	NOTCH3	ORPHA:136
HP:0007236	Recurrent subcortical infarcts	4854	NOTCH3	OMIM:125310
HP:0007236	Recurrent subcortical infarcts	83479	DDX59	OMIM:174300
HP:0007236	Recurrent subcortical infarcts	5654	HTRA1	OMIM:616779
HP:0007236	Recurrent subcortical infarcts	4763	NF1	ORPHA:97685
HP:0033363	Hyaline membranes	60558	GUF1	OMIM:617065
HP:0033364	Lipoid pneumonia	11080	DNAJB4	OMIM:620326
HP:0033367	Orthodeoxia	6440	SFTPC	ORPHA:2032
HP:0033367	Orthodeoxia	729238	SFTPA2	ORPHA:2032
HP:0033367	Orthodeoxia	79991	STN1	ORPHA:2032
HP:0033367	Orthodeoxia	653509	SFTPA1	ORPHA:2032
HP:0033367	Orthodeoxia	21	ABCA3	ORPHA:2032
HP:0033367	Orthodeoxia	1832	DSP	ORPHA:2032
HP:0033367	Orthodeoxia	727897	MUC5B	ORPHA:2032
HP:0033367	Orthodeoxia	10144	FAM13A	ORPHA:2032
HP:0033367	Orthodeoxia	23250	ATP11A	ORPHA:2032
HP:0033367	Orthodeoxia	91039	DPP9	ORPHA:2032
HP:0033367	Orthodeoxia	51750	RTEL1	ORPHA:2032
HP:0033367	Orthodeoxia	7012	TERC	ORPHA:2032
HP:0033367	Orthodeoxia	5073	PARN	ORPHA:2032
HP:0033367	Orthodeoxia	7015	TERT	ORPHA:2032
HP:0033369	Cavitating leukodystrophy	84334	COA8	OMIM:619061
HP:0007240	Progressive gait ataxia	1200	TPP1	ORPHA:284324
HP:0007240	Progressive gait ataxia	410	ARSA	ORPHA:309271
HP:0007240	Progressive gait ataxia	410	ARSA	ORPHA:309256
HP:0007240	Progressive gait ataxia	410	ARSA	ORPHA:309263
HP:0007240	Progressive gait ataxia	5660	PSAP	ORPHA:309271
HP:0007240	Progressive gait ataxia	5660	PSAP	ORPHA:309256
HP:0007240	Progressive gait ataxia	5660	PSAP	ORPHA:309263
HP:0007240	Progressive gait ataxia	55129	ANO10	ORPHA:284289
HP:0007240	Progressive gait ataxia	1938	EEF2	ORPHA:101112
HP:0007240	Progressive gait ataxia	4287	ATXN3	ORPHA:276244
HP:0007240	Progressive gait ataxia	4287	ATXN3	ORPHA:276241
HP:0007240	Progressive gait ataxia	4287	ATXN3	ORPHA:276238
HP:0007240	Progressive gait ataxia	7337	UBE3A	OMIM:105830
HP:0007240	Progressive gait ataxia	6638	SNRPN	OMIM:105830
HP:0007240	Progressive gait ataxia	5832	ALDH18A1	ORPHA:447757
HP:0007240	Progressive gait ataxia	6335	SCN9A	ORPHA:33069
HP:0007240	Progressive gait ataxia	6326	SCN2A	ORPHA:33069
HP:0007240	Progressive gait ataxia	2554	GABRA1	ORPHA:33069
HP:0007240	Progressive gait ataxia	6323	SCN1A	ORPHA:33069
HP:0007240	Progressive gait ataxia	6323	SCN1A	ORPHA:569
HP:0007240	Progressive gait ataxia	6324	SCN1B	ORPHA:33069
HP:0007240	Progressive gait ataxia	57526	PCDH19	ORPHA:33069
HP:0007240	Progressive gait ataxia	2566	GABRG2	ORPHA:33069
HP:0007240	Progressive gait ataxia	4508	MT-ATP6	ORPHA:644
HP:0007240	Progressive gait ataxia	773	CACNA1A	ORPHA:569
HP:0007240	Progressive gait ataxia	112476	PRRT2	ORPHA:569
HP:0007240	Progressive gait ataxia	477	ATP1A2	ORPHA:569
HP:0007240	Progressive gait ataxia	6712	SPTBN2	ORPHA:352403
HP:0007240	Progressive gait ataxia	55149	MTPAP	ORPHA:254343
HP:0007240	Progressive gait ataxia	23400	ATP13A2	ORPHA:513436
HP:0007240	Progressive gait ataxia	56652	TWNK	OMIM:607459
HP:0007240	Progressive gait ataxia	5428	POLG	OMIM:607459
HP:0007240	Progressive gait ataxia	79152	FA2H	ORPHA:329308
HP:0007240	Progressive gait ataxia	2705	GJB1	ORPHA:1175
HP:0007240	Progressive gait ataxia	23064	SETX	OMIM:606002
HP:0007240	Progressive gait ataxia	26278	SACS	OMIM:270550
HP:0007240	Progressive gait ataxia	5192	PEX10	ORPHA:247815
HP:0006799	Basal ganglia cysts	1376	CPT2	OMIM:608836
HP:0006799	Basal ganglia cysts	85476	GFM1	OMIM:609060
HP:0006799	Basal ganglia cysts	4508	MT-ATP6	ORPHA:225154
HP:0006799	Basal ganglia cysts	23636	NUP62	ORPHA:225154
HP:0006799	Basal ganglia cysts	53371	NUP54	ORPHA:225154
HP:0006799	Basal ganglia cysts	103	ADAR	ORPHA:225154
HP:0006799	Basal ganglia cysts	9361	LONP1	ORPHA:79243
HP:0006799	Basal ganglia cysts	5160	PDHA1	ORPHA:79243
HP:0006799	Basal ganglia cysts	5160	PDHA1	OMIM:312170
HP:0012541	Cephalohematoma	2157	F8	ORPHA:169802
HP:0012541	Cephalohematoma	8312	AXIN1	OMIM:620558
HP:0012541	Cephalohematoma	9578	CDC42BPB	OMIM:619841
HP:0012541	Cephalohematoma	2147	F2	ORPHA:325
HP:0012541	Cephalohematoma	2811	GP1BA	ORPHA:853
HP:0012541	Cephalohematoma	2812	GP1BB	ORPHA:853
HP:0012541	Cephalohematoma	3674	ITGA2B	ORPHA:853
HP:0012541	Cephalohematoma	3673	ITGA2	ORPHA:853
HP:0012541	Cephalohematoma	135228	CD109	ORPHA:853
HP:0012541	Cephalohematoma	3690	ITGB3	ORPHA:853
HP:0012542	Onychauxis	3643	INSR	OMIM:262190
HP:0012542	Onychauxis	3643	INSR	ORPHA:769
HP:0012542	Onychauxis	8323	FZD6	OMIM:161050
HP:0012543	Hemosiderinuria	9493	KIF23	OMIM:105600
HP:0012543	Hemosiderinuria	5277	PIGA	ORPHA:447
HP:0012544	Elevated circulating aldolase concentration	5213	PFKM	OMIM:232800
HP:0012544	Elevated circulating aldolase concentration	128989	TANGO2	OMIM:616878
HP:0012544	Elevated circulating aldolase concentration	84033	OBSCN	ORPHA:99845
HP:0012544	Elevated circulating aldolase concentration	23175	LPIN1	ORPHA:99845
HP:0012544	Elevated circulating aldolase concentration	4512	MT-CO1	ORPHA:99845
HP:0012544	Elevated circulating aldolase concentration	4514	MT-CO3	ORPHA:99845
HP:0012544	Elevated circulating aldolase concentration	7040	TGFB1	ORPHA:1328
HP:0012544	Elevated circulating aldolase concentration	1807	DPYS	OMIM:222748
HP:0012544	Elevated circulating aldolase concentration	3339	HSPG2	ORPHA:800
HP:0012545	Reduced circulating aldolase concentration	226	ALDOA	ORPHA:57
HP:0012545	Reduced circulating aldolase concentration	229	ALDOB	ORPHA:469
HP:0012547	Abnormal involuntary eye movements	26191	PTPN22	ORPHA:397
HP:0012547	Abnormal involuntary eye movements	3106	HLA-B	ORPHA:397
HP:0012547	Abnormal involuntary eye movements	3123	HLA-DRB1	ORPHA:397
HP:0012547	Abnormal involuntary eye movements	8974	P4HA2	ORPHA:397
HP:0012547	Abnormal involuntary eye movements	1718	DHCR24	OMIM:602398
HP:0012547	Abnormal involuntary eye movements	1718	DHCR24	ORPHA:35107
HP:0012547	Abnormal involuntary eye movements	4524	MTHFR	ORPHA:395
HP:0012547	Abnormal involuntary eye movements	26235	FBXL4	OMIM:615471
HP:0012547	Abnormal involuntary eye movements	2200	FBN1	ORPHA:1885
HP:0012547	Abnormal involuntary eye movements	54507	ADAMTSL4	ORPHA:1885
HP:0012547	Abnormal involuntary eye movements	7299	TYR	OMIM:203100
HP:0012547	Abnormal involuntary eye movements	7299	TYR	OMIM:606952
HP:0012547	Abnormal involuntary eye movements	7299	TYR	ORPHA:79431
HP:0012547	Abnormal involuntary eye movements	7299	TYR	ORPHA:79434
HP:0012547	Abnormal involuntary eye movements	9254	CACNA2D2	OMIM:618501
HP:0012547	Abnormal involuntary eye movements	7360	UGP2	OMIM:618744
HP:0012547	Abnormal involuntary eye movements	1786	DNMT1	ORPHA:314404
HP:0012547	Abnormal involuntary eye movements	5457	POU4F1	ORPHA:314647
HP:0012547	Abnormal involuntary eye movements	5457	POU4F1	OMIM:619352
HP:0012547	Abnormal involuntary eye movements	23261	CAMTA1	ORPHA:314647
HP:0012547	Abnormal involuntary eye movements	51	ACOX1	ORPHA:2971
HP:0012547	Abnormal involuntary eye movements	51	ACOX1	OMIM:264470
HP:0012547	Abnormal involuntary eye movements	51099	ABHD5	OMIM:275630
HP:0012547	Abnormal involuntary eye movements	51099	ABHD5	ORPHA:98907
HP:0012547	Abnormal involuntary eye movements	6687	SPG7	ORPHA:99013
HP:0012547	Abnormal involuntary eye movements	6687	SPG7	OMIM:607259
HP:0012547	Abnormal involuntary eye movements	4552	MTRR	OMIM:236270
HP:0012547	Abnormal involuntary eye movements	4552	MTRR	ORPHA:2169
HP:0012547	Abnormal involuntary eye movements	5354	PLP1	ORPHA:99015
HP:0012547	Abnormal involuntary eye movements	5354	PLP1	OMIM:312080
HP:0012547	Abnormal involuntary eye movements	5354	PLP1	OMIM:312920
HP:0012547	Abnormal involuntary eye movements	5354	PLP1	ORPHA:280210
HP:0012547	Abnormal involuntary eye movements	5354	PLP1	ORPHA:280224
HP:0012547	Abnormal involuntary eye movements	5354	PLP1	ORPHA:280219
HP:0012547	Abnormal involuntary eye movements	5354	PLP1	ORPHA:280234
HP:0012547	Abnormal involuntary eye movements	5354	PLP1	ORPHA:280229
HP:0012547	Abnormal involuntary eye movements	54714	CNGB3	OMIM:262300
HP:0012547	Abnormal involuntary eye movements	83959	SLC4A11	ORPHA:293603
HP:0012547	Abnormal involuntary eye movements	83959	SLC4A11	ORPHA:1490
HP:0012547	Abnormal involuntary eye movements	65993	MRPS34	OMIM:617664
HP:0012547	Abnormal involuntary eye movements	10528	NOP56	OMIM:614153
HP:0012547	Abnormal involuntary eye movements	23322	RPGRIP1L	ORPHA:220497
HP:0012547	Abnormal involuntary eye movements	23322	RPGRIP1L	ORPHA:1454
HP:0012547	Abnormal involuntary eye movements	23322	RPGRIP1L	OMIM:611560
HP:0012547	Abnormal involuntary eye movements	4867	NPHP1	ORPHA:220497
HP:0012547	Abnormal involuntary eye movements	4867	NPHP1	ORPHA:110
HP:0012547	Abnormal involuntary eye movements	4867	NPHP1	OMIM:609583
HP:0012547	Abnormal involuntary eye movements	65062	TMEM237	ORPHA:220497
HP:0012547	Abnormal involuntary eye movements	65062	TMEM237	ORPHA:2318
HP:0012547	Abnormal involuntary eye movements	65062	TMEM237	ORPHA:475
HP:0012547	Abnormal involuntary eye movements	65062	TMEM237	OMIM:614424
HP:0012547	Abnormal involuntary eye movements	26504	CNNM4	ORPHA:1873
HP:0012547	Abnormal involuntary eye movements	26504	CNNM4	OMIM:217080
HP:0012547	Abnormal involuntary eye movements	2137	EXTL3	OMIM:617425
HP:0012547	Abnormal involuntary eye movements	2137	EXTL3	ORPHA:508533
HP:0012547	Abnormal involuntary eye movements	166378	AFG2A	OMIM:616577
HP:0012547	Abnormal involuntary eye movements	27229	TUBGCP4	OMIM:616335
HP:0012547	Abnormal involuntary eye movements	27229	TUBGCP4	ORPHA:2518
HP:0012547	Abnormal involuntary eye movements	8842	PROM1	ORPHA:1872
HP:0012547	Abnormal involuntary eye movements	8842	PROM1	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	8842	PROM1	OMIM:612095
HP:0012547	Abnormal involuntary eye movements	22926	ATF6	ORPHA:1872
HP:0012547	Abnormal involuntary eye movements	22926	ATF6	OMIM:616517
HP:0012547	Abnormal involuntary eye movements	64802	NMNAT1	ORPHA:1872
HP:0012547	Abnormal involuntary eye movements	64802	NMNAT1	OMIM:619260
HP:0012547	Abnormal involuntary eye movements	64802	NMNAT1	ORPHA:65
HP:0012547	Abnormal involuntary eye movements	64802	NMNAT1	OMIM:608553
HP:0012547	Abnormal involuntary eye movements	84839	RAX2	ORPHA:1872
HP:0012547	Abnormal involuntary eye movements	57096	RPGRIP1	ORPHA:1872
HP:0012547	Abnormal involuntary eye movements	57096	RPGRIP1	ORPHA:65
HP:0012547	Abnormal involuntary eye movements	57096	RPGRIP1	OMIM:608194
HP:0012547	Abnormal involuntary eye movements	57096	RPGRIP1	OMIM:613826
HP:0012547	Abnormal involuntary eye movements	24	ABCA4	ORPHA:1872
HP:0012547	Abnormal involuntary eye movements	24	ABCA4	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	1261	CNGA3	ORPHA:1872
HP:0012547	Abnormal involuntary eye movements	1261	CNGA3	OMIM:216900
HP:0012547	Abnormal involuntary eye movements	92211	CDHR1	ORPHA:1872
HP:0012547	Abnormal involuntary eye movements	92211	CDHR1	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	5956	OPN1LW	ORPHA:1872
HP:0012547	Abnormal involuntary eye movements	5956	OPN1LW	ORPHA:16
HP:0012547	Abnormal involuntary eye movements	5956	OPN1LW	OMIM:303700
HP:0012547	Abnormal involuntary eye movements	5961	PRPH2	ORPHA:1872
HP:0012547	Abnormal involuntary eye movements	5961	PRPH2	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	755	CFAP410	ORPHA:1872
HP:0012547	Abnormal involuntary eye movements	755	CFAP410	OMIM:602271
HP:0012547	Abnormal involuntary eye movements	778	CACNA1F	ORPHA:1872
HP:0012547	Abnormal involuntary eye movements	778	CACNA1F	ORPHA:215
HP:0012547	Abnormal involuntary eye movements	778	CACNA1F	ORPHA:178333
HP:0012547	Abnormal involuntary eye movements	778	CACNA1F	OMIM:300600
HP:0012547	Abnormal involuntary eye movements	778	CACNA1F	OMIM:300476
HP:0012547	Abnormal involuntary eye movements	778	CACNA1F	OMIM:300071
HP:0012547	Abnormal involuntary eye movements	8754	ADAM9	ORPHA:1872
HP:0012547	Abnormal involuntary eye movements	3000	GUCY2D	ORPHA:1872
HP:0012547	Abnormal involuntary eye movements	3000	GUCY2D	OMIM:204000
HP:0012547	Abnormal involuntary eye movements	3000	GUCY2D	ORPHA:65
HP:0012547	Abnormal involuntary eye movements	3000	GUCY2D	OMIM:601777
HP:0012547	Abnormal involuntary eye movements	22999	RIMS1	ORPHA:1872
HP:0012547	Abnormal involuntary eye movements	128338	DRAM2	ORPHA:1872
HP:0012547	Abnormal involuntary eye movements	6103	RPGR	ORPHA:1872
HP:0012547	Abnormal involuntary eye movements	6103	RPGR	OMIM:304020
HP:0012547	Abnormal involuntary eye movements	6103	RPGR	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	2652	OPN1MW	ORPHA:1872
HP:0012547	Abnormal involuntary eye movements	2652	OPN1MW	ORPHA:16
HP:0012547	Abnormal involuntary eye movements	2652	OPN1MW	OMIM:303700
HP:0012547	Abnormal involuntary eye movements	1406	CRX	ORPHA:1872
HP:0012547	Abnormal involuntary eye movements	1406	CRX	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	1406	CRX	ORPHA:65
HP:0012547	Abnormal involuntary eye movements	1406	CRX	OMIM:613829
HP:0012547	Abnormal involuntary eye movements	9094	UNC119	ORPHA:1872
HP:0012547	Abnormal involuntary eye movements	93589	CACNA2D4	ORPHA:1872
HP:0012547	Abnormal involuntary eye movements	93589	CACNA2D4	ORPHA:215
HP:0012547	Abnormal involuntary eye movements	2978	GUCA1A	ORPHA:1872
HP:0012547	Abnormal involuntary eye movements	282809	POC1B	ORPHA:1872
HP:0012547	Abnormal involuntary eye movements	282809	POC1B	OMIM:615973
HP:0012547	Abnormal involuntary eye movements	64218	SEMA4A	ORPHA:1872
HP:0012547	Abnormal involuntary eye movements	64218	SEMA4A	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	83394	PITPNM3	ORPHA:1872
HP:0012547	Abnormal involuntary eye movements	23093	TTLL5	ORPHA:1872
HP:0012547	Abnormal involuntary eye movements	83723	TLCD3B	ORPHA:1872
HP:0012547	Abnormal involuntary eye movements	157657	CFAP418	ORPHA:1872
HP:0012547	Abnormal involuntary eye movements	157657	CFAP418	ORPHA:110
HP:0012547	Abnormal involuntary eye movements	157657	CFAP418	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	23746	AIPL1	ORPHA:1872
HP:0012547	Abnormal involuntary eye movements	23746	AIPL1	ORPHA:65
HP:0012547	Abnormal involuntary eye movements	9364	RAB28	ORPHA:1872
HP:0012547	Abnormal involuntary eye movements	55690	PACS1	OMIM:615009
HP:0012547	Abnormal involuntary eye movements	54806	AHI1	ORPHA:220493
HP:0012547	Abnormal involuntary eye movements	54806	AHI1	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	54806	AHI1	ORPHA:475
HP:0012547	Abnormal involuntary eye movements	54806	AHI1	OMIM:608629
HP:0012547	Abnormal involuntary eye movements	56623	INPP5E	ORPHA:220493
HP:0012547	Abnormal involuntary eye movements	56623	INPP5E	ORPHA:75858
HP:0012547	Abnormal involuntary eye movements	56623	INPP5E	ORPHA:1454
HP:0012547	Abnormal involuntary eye movements	56623	INPP5E	ORPHA:475
HP:0012547	Abnormal involuntary eye movements	153241	CEP120	ORPHA:220493
HP:0012547	Abnormal involuntary eye movements	153241	CEP120	ORPHA:475
HP:0012547	Abnormal involuntary eye movements	153241	CEP120	OMIM:617761
HP:0012547	Abnormal involuntary eye movements	54903	MKS1	ORPHA:220493
HP:0012547	Abnormal involuntary eye movements	54903	MKS1	ORPHA:110
HP:0012547	Abnormal involuntary eye movements	54903	MKS1	ORPHA:475
HP:0012547	Abnormal involuntary eye movements	54903	MKS1	OMIM:617121
HP:0012547	Abnormal involuntary eye movements	95681	CEP41	ORPHA:220493
HP:0012547	Abnormal involuntary eye movements	95681	CEP41	ORPHA:475
HP:0012547	Abnormal involuntary eye movements	10686	CLDN16	OMIM:248250
HP:0012547	Abnormal involuntary eye movements	85015	USP45	OMIM:618513
HP:0012547	Abnormal involuntary eye movements	85015	USP45	ORPHA:65
HP:0012547	Abnormal involuntary eye movements	10908	PNPLA6	OMIM:275400
HP:0012547	Abnormal involuntary eye movements	10908	PNPLA6	ORPHA:2377
HP:0012547	Abnormal involuntary eye movements	10908	PNPLA6	ORPHA:1173
HP:0012547	Abnormal involuntary eye movements	10908	PNPLA6	OMIM:245800
HP:0012547	Abnormal involuntary eye movements	1161	ERCC8	OMIM:216400
HP:0012547	Abnormal involuntary eye movements	1161	ERCC8	ORPHA:90324
HP:0012547	Abnormal involuntary eye movements	1161	ERCC8	ORPHA:90321
HP:0012547	Abnormal involuntary eye movements	1161	ERCC8	ORPHA:90322
HP:0012547	Abnormal involuntary eye movements	55636	CHD7	ORPHA:138
HP:0012547	Abnormal involuntary eye movements	55636	CHD7	ORPHA:478
HP:0012547	Abnormal involuntary eye movements	9723	SEMA3E	ORPHA:138
HP:0012547	Abnormal involuntary eye movements	219285	SAMD9L	OMIM:159550
HP:0012547	Abnormal involuntary eye movements	219285	SAMD9L	ORPHA:2585
HP:0012547	Abnormal involuntary eye movements	79868	ALG13	ORPHA:324422
HP:0012547	Abnormal involuntary eye movements	103	ADAR	OMIM:615010
HP:0012547	Abnormal involuntary eye movements	103	ADAR	ORPHA:51
HP:0012547	Abnormal involuntary eye movements	283652	SLC24A5	OMIM:113750
HP:0012547	Abnormal involuntary eye movements	283652	SLC24A5	ORPHA:370097
HP:0012547	Abnormal involuntary eye movements	64834	ELOVL1	OMIM:618527
HP:0012547	Abnormal involuntary eye movements	54543	TOMM7	OMIM:620601
HP:0012547	Abnormal involuntary eye movements	84100	ARL6	OMIM:209900
HP:0012547	Abnormal involuntary eye movements	84100	ARL6	ORPHA:110
HP:0012547	Abnormal involuntary eye movements	84100	ARL6	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	79140	CCDC28B	OMIM:209900
HP:0012547	Abnormal involuntary eye movements	582	BBS1	OMIM:209900
HP:0012547	Abnormal involuntary eye movements	582	BBS1	ORPHA:110
HP:0012547	Abnormal involuntary eye movements	582	BBS1	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	2697	GJA1	ORPHA:2710
HP:0012547	Abnormal involuntary eye movements	4508	MT-ATP6	OMIM:551500
HP:0012547	Abnormal involuntary eye movements	4508	MT-ATP6	ORPHA:255210
HP:0012547	Abnormal involuntary eye movements	4508	MT-ATP6	ORPHA:644
HP:0012547	Abnormal involuntary eye movements	4508	MT-ATP6	ORPHA:254913
HP:0012547	Abnormal involuntary eye movements	1716	DGUOK	OMIM:251880
HP:0012547	Abnormal involuntary eye movements	1420	CRYGC	OMIM:604307
HP:0012547	Abnormal involuntary eye movements	1420	CRYGC	ORPHA:1377
HP:0012547	Abnormal involuntary eye movements	857	CAV1	OMIM:606721
HP:0012547	Abnormal involuntary eye movements	5297	PI4KA	OMIM:619621
HP:0012547	Abnormal involuntary eye movements	5297	PI4KA	ORPHA:98889
HP:0012547	Abnormal involuntary eye movements	5297	PI4KA	OMIM:619708
HP:0012547	Abnormal involuntary eye movements	4330	MN1	OMIM:618774
HP:0012547	Abnormal involuntary eye movements	26258	BLOC1S6	OMIM:614171
HP:0012547	Abnormal involuntary eye movements	57231	SNX14	OMIM:616354
HP:0012547	Abnormal involuntary eye movements	57231	SNX14	ORPHA:397709
HP:0012547	Abnormal involuntary eye movements	5833	PCYT2	OMIM:618770
HP:0012547	Abnormal involuntary eye movements	8550	MAPKAPK5	OMIM:619869
HP:0012547	Abnormal involuntary eye movements	3340	NDST1	OMIM:616116
HP:0012547	Abnormal involuntary eye movements	89910	UBE3B	ORPHA:2707
HP:0012547	Abnormal involuntary eye movements	89910	UBE3B	OMIM:244450
HP:0012547	Abnormal involuntary eye movements	26834	RNU4-2	OMIM:620851
HP:0012547	Abnormal involuntary eye movements	788	SLC25A20	ORPHA:159
HP:0012547	Abnormal involuntary eye movements	5373	PMM2	OMIM:212065
HP:0012547	Abnormal involuntary eye movements	167691	LCA5	OMIM:604537
HP:0012547	Abnormal involuntary eye movements	167691	LCA5	ORPHA:364055
HP:0012547	Abnormal involuntary eye movements	167691	LCA5	ORPHA:65
HP:0012547	Abnormal involuntary eye movements	92482	BBIP1	ORPHA:110
HP:0012547	Abnormal involuntary eye movements	80184	CEP290	ORPHA:110
HP:0012547	Abnormal involuntary eye movements	80184	CEP290	ORPHA:65
HP:0012547	Abnormal involuntary eye movements	80184	CEP290	OMIM:610188
HP:0012547	Abnormal involuntary eye movements	80184	CEP290	ORPHA:2318
HP:0012547	Abnormal involuntary eye movements	80184	CEP290	OMIM:615991
HP:0012547	Abnormal involuntary eye movements	11020	IFT27	ORPHA:110
HP:0012547	Abnormal involuntary eye movements	49855	SCAPER	ORPHA:110
HP:0012547	Abnormal involuntary eye movements	49855	SCAPER	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	51057	WDPCP	ORPHA:110
HP:0012547	Abnormal involuntary eye movements	132320	SCLT1	ORPHA:110
HP:0012547	Abnormal involuntary eye movements	27241	BBS9	ORPHA:110
HP:0012547	Abnormal involuntary eye movements	84984	CEP19	ORPHA:110
HP:0012547	Abnormal involuntary eye movements	22954	TRIM32	ORPHA:110
HP:0012547	Abnormal involuntary eye movements	79738	BBS10	ORPHA:110
HP:0012547	Abnormal involuntary eye movements	123016	TTC8	ORPHA:110
HP:0012547	Abnormal involuntary eye movements	123016	TTC8	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	26160	IFT172	ORPHA:110
HP:0012547	Abnormal involuntary eye movements	26160	IFT172	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	583	BBS2	ORPHA:110
HP:0012547	Abnormal involuntary eye movements	583	BBS2	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	585	BBS4	ORPHA:110
HP:0012547	Abnormal involuntary eye movements	8195	MKKS	ORPHA:110
HP:0012547	Abnormal involuntary eye movements	54585	LZTFL1	ORPHA:110
HP:0012547	Abnormal involuntary eye movements	55212	BBS7	ORPHA:110
HP:0012547	Abnormal involuntary eye movements	166379	BBS12	ORPHA:110
HP:0012547	Abnormal involuntary eye movements	10806	SDCCAG8	ORPHA:110
HP:0012547	Abnormal involuntary eye movements	129880	BBS5	ORPHA:110
HP:0012547	Abnormal involuntary eye movements	80173	IFT74	ORPHA:110
HP:0012547	Abnormal involuntary eye movements	80173	IFT74	ORPHA:475
HP:0012547	Abnormal involuntary eye movements	5146	PDE6C	OMIM:613093
HP:0012547	Abnormal involuntary eye movements	3982	LIM2	OMIM:615277
HP:0012547	Abnormal involuntary eye movements	91574	MTRFR	OMIM:615035
HP:0012547	Abnormal involuntary eye movements	91574	MTRFR	ORPHA:254930
HP:0012547	Abnormal involuntary eye movements	91574	MTRFR	OMIM:613559
HP:0012547	Abnormal involuntary eye movements	23126	POGZ	OMIM:616364
HP:0012547	Abnormal involuntary eye movements	3769	KCNJ13	OMIM:614186
HP:0012547	Abnormal involuntary eye movements	3769	KCNJ13	ORPHA:65
HP:0012547	Abnormal involuntary eye movements	5604	MAP2K1	OMIM:615279
HP:0012547	Abnormal involuntary eye movements	5604	MAP2K1	ORPHA:1340
HP:0012547	Abnormal involuntary eye movements	51692	CPSF3	OMIM:619876
HP:0012547	Abnormal involuntary eye movements	3098	HK1	OMIM:618547
HP:0012547	Abnormal involuntary eye movements	5590	PRKCZ	ORPHA:1606
HP:0012547	Abnormal involuntary eye movements	2563	GABRD	ORPHA:1606
HP:0012547	Abnormal involuntary eye movements	23013	SPEN	ORPHA:1606
HP:0012547	Abnormal involuntary eye movements	8510	MMP23B	ORPHA:1606
HP:0012547	Abnormal involuntary eye movements	7798	LUZP1	ORPHA:1606
HP:0012547	Abnormal involuntary eye movements	6497	SKI	ORPHA:1606
HP:0012547	Abnormal involuntary eye movements	10630	PDPN	ORPHA:1606
HP:0012547	Abnormal involuntary eye movements	3339	HSPG2	ORPHA:1606
HP:0012547	Abnormal involuntary eye movements	10277	UBE4B	ORPHA:1606
HP:0012547	Abnormal involuntary eye movements	8514	KCNAB2	ORPHA:1606
HP:0012547	Abnormal involuntary eye movements	473	RERE	ORPHA:1606
HP:0012547	Abnormal involuntary eye movements	63976	PRDM16	ORPHA:1606
HP:0012547	Abnormal involuntary eye movements	54897	CASZ1	ORPHA:1606
HP:0012547	Abnormal involuntary eye movements	1822	ATN1	ORPHA:101
HP:0012547	Abnormal involuntary eye movements	472	ATM	ORPHA:100
HP:0012547	Abnormal involuntary eye movements	472	ATM	OMIM:208900
HP:0012547	Abnormal involuntary eye movements	55210	ATAD3A	ORPHA:496790
HP:0012547	Abnormal involuntary eye movements	55210	ATAD3A	OMIM:617183
HP:0012547	Abnormal involuntary eye movements	5605	MAP2K2	OMIM:615280
HP:0012547	Abnormal involuntary eye movements	5605	MAP2K2	ORPHA:1340
HP:0012547	Abnormal involuntary eye movements	4644	MYO5A	ORPHA:33445
HP:0012547	Abnormal involuntary eye movements	4644	MYO5A	ORPHA:79476
HP:0012547	Abnormal involuntary eye movements	54828	BCAS3	OMIM:619641
HP:0012547	Abnormal involuntary eye movements	1615	DARS1	OMIM:615281
HP:0012547	Abnormal involuntary eye movements	122961	ISCA2	OMIM:616370
HP:0012547	Abnormal involuntary eye movements	5621	PRNP	ORPHA:157941
HP:0012547	Abnormal involuntary eye movements	5621	PRNP	ORPHA:282166
HP:0012547	Abnormal involuntary eye movements	2232	FDXR	ORPHA:543470
HP:0012547	Abnormal involuntary eye movements	2232	FDXR	OMIM:617717
HP:0012547	Abnormal involuntary eye movements	3913	LAMB2	OMIM:614199
HP:0012547	Abnormal involuntary eye movements	56652	TWNK	OMIM:616138
HP:0012547	Abnormal involuntary eye movements	56652	TWNK	OMIM:271245
HP:0012547	Abnormal involuntary eye movements	56652	TWNK	OMIM:607459
HP:0012547	Abnormal involuntary eye movements	56652	TWNK	ORPHA:70595
HP:0012547	Abnormal involuntary eye movements	23400	ATP13A2	OMIM:617225
HP:0012547	Abnormal involuntary eye movements	23400	ATP13A2	ORPHA:306674
HP:0012547	Abnormal involuntary eye movements	200424	TET3	OMIM:618798
HP:0012547	Abnormal involuntary eye movements	146227	BEAN1	ORPHA:217012
HP:0012547	Abnormal involuntary eye movements	146227	BEAN1	OMIM:117210
HP:0012547	Abnormal involuntary eye movements	9711	RUBCN	ORPHA:404499
HP:0012547	Abnormal involuntary eye movements	9711	RUBCN	OMIM:615705
HP:0012547	Abnormal involuntary eye movements	57192	MCOLN1	ORPHA:578
HP:0012547	Abnormal involuntary eye movements	5917	RARS1	OMIM:616140
HP:0012547	Abnormal involuntary eye movements	5917	RARS1	ORPHA:438114
HP:0012547	Abnormal involuntary eye movements	197258	FCSK	OMIM:618324
HP:0012547	Abnormal involuntary eye movements	2395	FXN	OMIM:229300
HP:0012547	Abnormal involuntary eye movements	2395	FXN	ORPHA:95
HP:0012547	Abnormal involuntary eye movements	57679	ALS2	OMIM:205100
HP:0012547	Abnormal involuntary eye movements	57679	ALS2	ORPHA:300605
HP:0012547	Abnormal involuntary eye movements	8565	YARS1	OMIM:619418
HP:0012547	Abnormal involuntary eye movements	84168	ANTXR1	OMIM:230740
HP:0012547	Abnormal involuntary eye movements	84168	ANTXR1	ORPHA:2067
HP:0012547	Abnormal involuntary eye movements	84131	CEP78	OMIM:617236
HP:0012547	Abnormal involuntary eye movements	25836	NIPBL	OMIM:122470
HP:0012547	Abnormal involuntary eye movements	25836	NIPBL	ORPHA:199
HP:0012547	Abnormal involuntary eye movements	6533	SLC6A6	OMIM:145350
HP:0012547	Abnormal involuntary eye movements	100151683	RNU4ATAC	ORPHA:1824
HP:0012547	Abnormal involuntary eye movements	100151683	RNU4ATAC	OMIM:226960
HP:0012547	Abnormal involuntary eye movements	2778	GNAS	ORPHA:79443
HP:0012547	Abnormal involuntary eye movements	2778	GNAS	ORPHA:79444
HP:0012547	Abnormal involuntary eye movements	2778	GNAS	OMIM:103580
HP:0012547	Abnormal involuntary eye movements	2778	GNAS	ORPHA:94089
HP:0012547	Abnormal involuntary eye movements	2778	GNAS	OMIM:612463
HP:0012547	Abnormal involuntary eye movements	2778	GNAS	OMIM:612462
HP:0012547	Abnormal involuntary eye movements	84295	PHF6	ORPHA:127
HP:0012547	Abnormal involuntary eye movements	84295	PHF6	OMIM:301900
HP:0012547	Abnormal involuntary eye movements	5654	HTRA1	OMIM:600142
HP:0012547	Abnormal involuntary eye movements	85300	ATCAY	OMIM:601238
HP:0012547	Abnormal involuntary eye movements	85300	ATCAY	ORPHA:94122
HP:0012547	Abnormal involuntary eye movements	9742	IFT140	OMIM:266920
HP:0012547	Abnormal involuntary eye movements	9742	IFT140	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	9742	IFT140	ORPHA:65
HP:0012547	Abnormal involuntary eye movements	60529	ALX4	ORPHA:228390
HP:0012547	Abnormal involuntary eye movements	60529	ALX4	ORPHA:52022
HP:0012547	Abnormal involuntary eye movements	120	ADD3	OMIM:617008
HP:0012547	Abnormal involuntary eye movements	2583	B4GALNT1	OMIM:609195
HP:0012547	Abnormal involuntary eye movements	5813	PURA	OMIM:616158
HP:0012547	Abnormal involuntary eye movements	1642	DDB1	OMIM:619426
HP:0012547	Abnormal involuntary eye movements	5908	RAP1B	OMIM:620654
HP:0012547	Abnormal involuntary eye movements	343035	RD3	OMIM:610612
HP:0012547	Abnormal involuntary eye movements	343035	RD3	ORPHA:65
HP:0012547	Abnormal involuntary eye movements	4157	MC1R	ORPHA:79432
HP:0012547	Abnormal involuntary eye movements	4157	MC1R	OMIM:203200
HP:0012547	Abnormal involuntary eye movements	4948	OCA2	ORPHA:79432
HP:0012547	Abnormal involuntary eye movements	4948	OCA2	OMIM:203200
HP:0012547	Abnormal involuntary eye movements	4001	LMNB1	ORPHA:99027
HP:0012547	Abnormal involuntary eye movements	4001	LMNB1	OMIM:169500
HP:0012547	Abnormal involuntary eye movements	7306	TYRP1	ORPHA:79433
HP:0012547	Abnormal involuntary eye movements	7306	TYRP1	OMIM:203290
HP:0012547	Abnormal involuntary eye movements	51151	SLC45A2	ORPHA:79435
HP:0012547	Abnormal involuntary eye movements	51151	SLC45A2	OMIM:606574
HP:0012547	Abnormal involuntary eye movements	64132	XYLT2	OMIM:605822
HP:0012547	Abnormal involuntary eye movements	64132	XYLT2	ORPHA:85194
HP:0012547	Abnormal involuntary eye movements	2074	ERCC6	OMIM:133540
HP:0012547	Abnormal involuntary eye movements	2074	ERCC6	ORPHA:90324
HP:0012547	Abnormal involuntary eye movements	2074	ERCC6	ORPHA:90321
HP:0012547	Abnormal involuntary eye movements	2074	ERCC6	ORPHA:90322
HP:0012547	Abnormal involuntary eye movements	2074	ERCC6	OMIM:214150
HP:0012547	Abnormal involuntary eye movements	7287	TULP1	OMIM:600132
HP:0012547	Abnormal involuntary eye movements	7287	TULP1	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	7287	TULP1	ORPHA:65
HP:0012547	Abnormal involuntary eye movements	7287	TULP1	OMIM:613843
HP:0012547	Abnormal involuntary eye movements	10059	DNM1L	ORPHA:330050
HP:0012547	Abnormal involuntary eye movements	10059	DNM1L	ORPHA:98673
HP:0012547	Abnormal involuntary eye movements	92840	REEP6	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	6094	ROM1	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	6017	RLBP1	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	7401	CLRN1	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	130557	ZNF513	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	23568	ARL2BP	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	6121	RPE65	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	6121	RPE65	ORPHA:364055
HP:0012547	Abnormal involuntary eye movements	6121	RPE65	ORPHA:65
HP:0012547	Abnormal involuntary eye movements	6121	RPE65	OMIM:204100
HP:0012547	Abnormal involuntary eye movements	6121	RPE65	OMIM:613794
HP:0012547	Abnormal involuntary eye movements	6101	RP1	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	3419	IDH3A	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	4751	NEK2	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	346007	EYS	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	8100	IFT88	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	23020	SNRNP200	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	762	CA4	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	138050	HGSNAT	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	196	AHR	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	3614	IMPDH1	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	3614	IMPDH1	ORPHA:65
HP:0012547	Abnormal involuntary eye movements	3614	IMPDH1	OMIM:613837
HP:0012547	Abnormal involuntary eye movements	5148	PDE6G	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	26121	PRPF31	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	4117	MAK	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	25794	FSCN2	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	375298	CERKL	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	3420	IDH3B	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	57670	KIAA1549	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	7275	TUB	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	24148	PRPF6	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	23418	CRB1	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	23418	CRB1	OMIM:600105
HP:0012547	Abnormal involuntary eye movements	23418	CRB1	ORPHA:65
HP:0012547	Abnormal involuntary eye movements	23418	CRB1	OMIM:613835
HP:0012547	Abnormal involuntary eye movements	10461	MERTK	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	57709	SLC7A14	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	768206	PRCD	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	7399	USH2A	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	7399	USH2A	ORPHA:231178
HP:0012547	Abnormal involuntary eye movements	23370	ARHGEF18	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	5949	RBP3	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	6010	RHO	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	6010	RHO	ORPHA:215
HP:0012547	Abnormal involuntary eye movements	6100	RP9	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	10002	NR2E3	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	9227	LRAT	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	9227	LRAT	ORPHA:364055
HP:0012547	Abnormal involuntary eye movements	9227	LRAT	ORPHA:65
HP:0012547	Abnormal involuntary eye movements	9227	LRAT	OMIM:613341
HP:0012547	Abnormal involuntary eye movements	84140	FAM161A	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	55812	SPATA7	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	55812	SPATA7	ORPHA:364055
HP:0012547	Abnormal involuntary eye movements	55812	SPATA7	ORPHA:65
HP:0012547	Abnormal involuntary eye movements	55812	SPATA7	OMIM:604232
HP:0012547	Abnormal involuntary eye movements	55624	POMGNT1	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	55624	POMGNT1	OMIM:253280
HP:0012547	Abnormal involuntary eye movements	79797	ZNF408	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	403	ARL3	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	403	ARL3	ORPHA:475
HP:0012547	Abnormal involuntary eye movements	5145	PDE6A	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	10210	TOPORS	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	10210	TOPORS	ORPHA:2754
HP:0012547	Abnormal involuntary eye movements	9128	PRPF4	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	145226	RDH12	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	145226	RDH12	ORPHA:65
HP:0012547	Abnormal involuntary eye movements	50939	IMPG2	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	57545	CC2D2A	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	57545	CC2D2A	ORPHA:2318
HP:0012547	Abnormal involuntary eye movements	57545	CC2D2A	ORPHA:1454
HP:0012547	Abnormal involuntary eye movements	57545	CC2D2A	OMIM:612285
HP:0012547	Abnormal involuntary eye movements	8481	OFD1	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	8481	OFD1	ORPHA:2754
HP:0012547	Abnormal involuntary eye movements	8481	OFD1	ORPHA:475
HP:0012547	Abnormal involuntary eye movements	2979	GUCA1B	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	1259	CNGA1	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	1258	CNGB1	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	60509	AGBL5	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	388939	PCARE	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	7439	BEST1	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	7439	BEST1	OMIM:193220
HP:0012547	Abnormal involuntary eye movements	9785	DHX38	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	5995	RGR	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	9129	PRPF3	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	55975	KLHL7	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	3617	IMPG1	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	94137	RP1L1	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	5158	PDE6B	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	5158	PDE6B	ORPHA:215
HP:0012547	Abnormal involuntary eye movements	6102	RP2	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	55857	KIZ	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	4901	NRL	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	10594	PRPF8	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	6295	SAG	ORPHA:791
HP:0012547	Abnormal involuntary eye movements	6295	SAG	ORPHA:215
HP:0012547	Abnormal involuntary eye movements	6295	SAG	ORPHA:75382
HP:0012547	Abnormal involuntary eye movements	8473	OGT	OMIM:300997
HP:0012547	Abnormal involuntary eye movements	4311	MME	OMIM:617018
HP:0012547	Abnormal involuntary eye movements	8573	CASK	OMIM:300749
HP:0012547	Abnormal involuntary eye movements	8573	CASK	ORPHA:163937
HP:0012547	Abnormal involuntary eye movements	1798	DPAGT1	OMIM:608093
HP:0012547	Abnormal involuntary eye movements	1798	DPAGT1	ORPHA:86309
HP:0012547	Abnormal involuntary eye movements	51259	TMEM216	OMIM:608091
HP:0012547	Abnormal involuntary eye movements	51259	TMEM216	ORPHA:2318
HP:0012547	Abnormal involuntary eye movements	51259	TMEM216	ORPHA:2754
HP:0012547	Abnormal involuntary eye movements	9526	MPDU1	OMIM:609180
HP:0012547	Abnormal involuntary eye movements	3708	ITPR1	ORPHA:208513
HP:0012547	Abnormal involuntary eye movements	3708	ITPR1	OMIM:117360
HP:0012547	Abnormal involuntary eye movements	3708	ITPR1	OMIM:206700
HP:0012547	Abnormal involuntary eye movements	3708	ITPR1	OMIM:606658
HP:0012547	Abnormal involuntary eye movements	128869	PIGU	OMIM:618590
HP:0012547	Abnormal involuntary eye movements	11277	TREX1	OMIM:225750
HP:0012547	Abnormal involuntary eye movements	11277	TREX1	ORPHA:51
HP:0012547	Abnormal involuntary eye movements	6809	STX3	OMIM:619446
HP:0012547	Abnormal involuntary eye movements	57520	HECW2	OMIM:617268
HP:0012547	Abnormal involuntary eye movements	8492	PRSS12	OMIM:249500
HP:0012547	Abnormal involuntary eye movements	2784	GNB3	OMIM:617024
HP:0012547	Abnormal involuntary eye movements	2784	GNB3	ORPHA:215
HP:0012547	Abnormal involuntary eye movements	25885	POLR1A	OMIM:620675
HP:0012547	Abnormal involuntary eye movements	4952	OCRL	ORPHA:534
HP:0012547	Abnormal involuntary eye movements	427	ASAH1	ORPHA:333
HP:0012547	Abnormal involuntary eye movements	92255	LMBRD2	OMIM:619694
HP:0012547	Abnormal involuntary eye movements	4647	MYO7A	OMIM:276900
HP:0012547	Abnormal involuntary eye movements	4647	MYO7A	ORPHA:231178
HP:0012547	Abnormal involuntary eye movements	10083	USH1C	OMIM:276900
HP:0012547	Abnormal involuntary eye movements	3858	KRT10	OMIM:609165
HP:0012547	Abnormal involuntary eye movements	8260	NAA10	ORPHA:568
HP:0012547	Abnormal involuntary eye movements	54880	BCOR	ORPHA:568
HP:0012547	Abnormal involuntary eye movements	51102	MECR	OMIM:617282
HP:0012547	Abnormal involuntary eye movements	51102	MECR	ORPHA:508093
HP:0012547	Abnormal involuntary eye movements	2068	ERCC2	OMIM:601675
HP:0012547	Abnormal involuntary eye movements	2068	ERCC2	ORPHA:33364
HP:0012547	Abnormal involuntary eye movements	2068	ERCC2	ORPHA:220295
HP:0012547	Abnormal involuntary eye movements	1301	COL11A1	ORPHA:560
HP:0012547	Abnormal involuntary eye movements	5631	PRPS1	OMIM:301835
HP:0012547	Abnormal involuntary eye movements	5631	PRPS1	ORPHA:1187
HP:0012547	Abnormal involuntary eye movements	4935	GPR143	OMIM:300500
HP:0012547	Abnormal involuntary eye movements	4935	GPR143	ORPHA:54
HP:0012547	Abnormal involuntary eye movements	9758	FRMPD4	OMIM:300983
HP:0012547	Abnormal involuntary eye movements	6297	SALL2	OMIM:216820
HP:0012547	Abnormal involuntary eye movements	64374	SIL1	ORPHA:559
HP:0012547	Abnormal involuntary eye movements	64374	SIL1	OMIM:248800
HP:0012547	Abnormal involuntary eye movements	4548	MTR	OMIM:250940
HP:0012547	Abnormal involuntary eye movements	79736	TEFM	OMIM:620451
HP:0012547	Abnormal involuntary eye movements	3028	HSD17B10	ORPHA:391428
HP:0012547	Abnormal involuntary eye movements	3028	HSD17B10	OMIM:300438
HP:0012547	Abnormal involuntary eye movements	50801	KCNK4	OMIM:618381
HP:0012547	Abnormal involuntary eye movements	8943	AP3D1	OMIM:617050
HP:0012547	Abnormal involuntary eye movements	8943	AP3D1	ORPHA:54
HP:0012547	Abnormal involuntary eye movements	8943	AP3D1	ORPHA:1000
HP:0012547	Abnormal involuntary eye movements	9757	KMT2B	ORPHA:589618
HP:0012547	Abnormal involuntary eye movements	9757	KMT2B	OMIM:619934
HP:0012547	Abnormal involuntary eye movements	57498	KIDINS220	OMIM:617296
HP:0012547	Abnormal involuntary eye movements	57498	KIDINS220	ORPHA:521390
HP:0012547	Abnormal involuntary eye movements	29957	SLC25A24	ORPHA:2095
HP:0012547	Abnormal involuntary eye movements	65250	CPLANE1	OMIM:277170
HP:0012547	Abnormal involuntary eye movements	65250	CPLANE1	ORPHA:2754
HP:0012547	Abnormal involuntary eye movements	65250	CPLANE1	ORPHA:475
HP:0012547	Abnormal involuntary eye movements	57187	THOC2	OMIM:300957
HP:0012547	Abnormal involuntary eye movements	57187	THOC2	ORPHA:457240
HP:0012547	Abnormal involuntary eye movements	10526	IPO8	OMIM:619472
HP:0012547	Abnormal involuntary eye movements	54539	NDUFB11	OMIM:300952
HP:0012547	Abnormal involuntary eye movements	54539	NDUFB11	ORPHA:2609
HP:0012547	Abnormal involuntary eye movements	94005	PIGS	OMIM:618143
HP:0012547	Abnormal involuntary eye movements	3257	HPS1	OMIM:203300
HP:0012547	Abnormal involuntary eye movements	57010	CABP4	OMIM:610427
HP:0012547	Abnormal involuntary eye movements	57010	CABP4	ORPHA:215
HP:0012547	Abnormal involuntary eye movements	136647	MPLKIP	OMIM:234050
HP:0012547	Abnormal involuntary eye movements	136647	MPLKIP	ORPHA:33364
HP:0012547	Abnormal involuntary eye movements	100147744	RNU7-1	OMIM:619487
HP:0012547	Abnormal involuntary eye movements	100147744	RNU7-1	ORPHA:51
HP:0012547	Abnormal involuntary eye movements	6872	TAF1	OMIM:300966
HP:0012547	Abnormal involuntary eye movements	374879	ZNF699	OMIM:619488
HP:0012547	Abnormal involuntary eye movements	134353	LSM11	OMIM:619486
HP:0012547	Abnormal involuntary eye movements	134353	LSM11	ORPHA:51
HP:0012547	Abnormal involuntary eye movements	9373	PLAA	ORPHA:521426
HP:0012547	Abnormal involuntary eye movements	9373	PLAA	OMIM:617527
HP:0012547	Abnormal involuntary eye movements	55717	WDR11	OMIM:620237
HP:0012547	Abnormal involuntary eye movements	55717	WDR11	ORPHA:478
HP:0012547	Abnormal involuntary eye movements	392255	GDF6	OMIM:613703
HP:0012547	Abnormal involuntary eye movements	392255	GDF6	ORPHA:65
HP:0012547	Abnormal involuntary eye movements	9573	GDF3	OMIM:613703
HP:0012547	Abnormal involuntary eye movements	10681	GNB5	ORPHA:542306
HP:0012547	Abnormal involuntary eye movements	10681	GNB5	OMIM:617173
HP:0012547	Abnormal involuntary eye movements	10681	GNB5	OMIM:617182
HP:0012547	Abnormal involuntary eye movements	7284	TUFM	OMIM:610678
HP:0012547	Abnormal involuntary eye movements	6663	SOX10	OMIM:609136
HP:0012547	Abnormal involuntary eye movements	6663	SOX10	ORPHA:163746
HP:0012547	Abnormal involuntary eye movements	6663	SOX10	ORPHA:478
HP:0012547	Abnormal involuntary eye movements	6663	SOX10	OMIM:611584
HP:0012547	Abnormal involuntary eye movements	5080	PAX6	OMIM:120200
HP:0012547	Abnormal involuntary eye movements	5080	PAX6	OMIM:106210
HP:0012547	Abnormal involuntary eye movements	5080	PAX6	ORPHA:35737
HP:0012547	Abnormal involuntary eye movements	5080	PAX6	ORPHA:893
HP:0012547	Abnormal involuntary eye movements	5080	PAX6	ORPHA:708
HP:0012547	Abnormal involuntary eye movements	5080	PAX6	OMIM:165550
HP:0012547	Abnormal involuntary eye movements	5080	PAX6	ORPHA:2253
HP:0012547	Abnormal involuntary eye movements	5080	PAX6	ORPHA:250923
HP:0012547	Abnormal involuntary eye movements	5080	PAX6	OMIM:604229
HP:0012547	Abnormal involuntary eye movements	26278	SACS	OMIM:270550
HP:0012547	Abnormal involuntary eye movements	55670	PEX26	ORPHA:772
HP:0012547	Abnormal involuntary eye movements	55670	PEX26	ORPHA:44
HP:0012547	Abnormal involuntary eye movements	55670	PEX26	OMIM:614872
HP:0012547	Abnormal involuntary eye movements	55670	PEX26	ORPHA:912
HP:0012547	Abnormal involuntary eye movements	5824	PEX19	ORPHA:772
HP:0012547	Abnormal involuntary eye movements	5824	PEX19	ORPHA:44
HP:0012547	Abnormal involuntary eye movements	5824	PEX19	ORPHA:912
HP:0012547	Abnormal involuntary eye movements	5828	PEX2	ORPHA:772
HP:0012547	Abnormal involuntary eye movements	5828	PEX2	ORPHA:44
HP:0012547	Abnormal involuntary eye movements	5828	PEX2	OMIM:614867
HP:0012547	Abnormal involuntary eye movements	5828	PEX2	ORPHA:912
HP:0012547	Abnormal involuntary eye movements	8504	PEX3	ORPHA:772
HP:0012547	Abnormal involuntary eye movements	8504	PEX3	ORPHA:44
HP:0012547	Abnormal involuntary eye movements	8504	PEX3	OMIM:617370
HP:0012547	Abnormal involuntary eye movements	8504	PEX3	ORPHA:912
HP:0012547	Abnormal involuntary eye movements	9409	PEX16	ORPHA:772
HP:0012547	Abnormal involuntary eye movements	9409	PEX16	ORPHA:44
HP:0012547	Abnormal involuntary eye movements	9409	PEX16	OMIM:614877
HP:0012547	Abnormal involuntary eye movements	9409	PEX16	ORPHA:912
HP:0012547	Abnormal involuntary eye movements	5190	PEX6	ORPHA:772
HP:0012547	Abnormal involuntary eye movements	5190	PEX6	ORPHA:95433
HP:0012547	Abnormal involuntary eye movements	5190	PEX6	ORPHA:44
HP:0012547	Abnormal involuntary eye movements	5190	PEX6	OMIM:614863
HP:0012547	Abnormal involuntary eye movements	5190	PEX6	ORPHA:912
HP:0012547	Abnormal involuntary eye movements	8799	PEX11B	ORPHA:772
HP:0012547	Abnormal involuntary eye movements	8799	PEX11B	ORPHA:44
HP:0012547	Abnormal involuntary eye movements	8799	PEX11B	OMIM:614920
HP:0012547	Abnormal involuntary eye movements	8799	PEX11B	ORPHA:912
HP:0012547	Abnormal involuntary eye movements	5830	PEX5	ORPHA:772
HP:0012547	Abnormal involuntary eye movements	5830	PEX5	ORPHA:44
HP:0012547	Abnormal involuntary eye movements	5830	PEX5	ORPHA:912
HP:0012547	Abnormal involuntary eye movements	5189	PEX1	ORPHA:772
HP:0012547	Abnormal involuntary eye movements	5189	PEX1	ORPHA:44
HP:0012547	Abnormal involuntary eye movements	5189	PEX1	OMIM:214100
HP:0012547	Abnormal involuntary eye movements	5189	PEX1	ORPHA:912
HP:0012547	Abnormal involuntary eye movements	5193	PEX12	ORPHA:772
HP:0012547	Abnormal involuntary eye movements	5193	PEX12	ORPHA:44
HP:0012547	Abnormal involuntary eye movements	5193	PEX12	ORPHA:912
HP:0012547	Abnormal involuntary eye movements	5193	PEX12	OMIM:266510
HP:0012547	Abnormal involuntary eye movements	5194	PEX13	ORPHA:772
HP:0012547	Abnormal involuntary eye movements	5194	PEX13	ORPHA:44
HP:0012547	Abnormal involuntary eye movements	5194	PEX13	ORPHA:912
HP:0012547	Abnormal involuntary eye movements	5195	PEX14	ORPHA:772
HP:0012547	Abnormal involuntary eye movements	5195	PEX14	ORPHA:44
HP:0012547	Abnormal involuntary eye movements	5195	PEX14	ORPHA:912
HP:0012547	Abnormal involuntary eye movements	5192	PEX10	ORPHA:772
HP:0012547	Abnormal involuntary eye movements	5192	PEX10	ORPHA:44
HP:0012547	Abnormal involuntary eye movements	5192	PEX10	OMIM:614871
HP:0012547	Abnormal involuntary eye movements	5192	PEX10	ORPHA:912
HP:0012547	Abnormal involuntary eye movements	5264	PHYH	ORPHA:773
HP:0012547	Abnormal involuntary eye movements	5264	PHYH	OMIM:266500
HP:0012547	Abnormal involuntary eye movements	5191	PEX7	ORPHA:773
HP:0012547	Abnormal involuntary eye movements	5191	PEX7	OMIM:266500
HP:0012547	Abnormal involuntary eye movements	6389	SDHA	OMIM:619259
HP:0012547	Abnormal involuntary eye movements	6389	SDHA	ORPHA:3208
HP:0012547	Abnormal involuntary eye movements	6389	SDHA	OMIM:252011
HP:0012547	Abnormal involuntary eye movements	10479	SLC9A6	ORPHA:85278
HP:0012547	Abnormal involuntary eye movements	63899	NSUN3	OMIM:619012
HP:0012547	Abnormal involuntary eye movements	54187	NANS	OMIM:610442
HP:0012547	Abnormal involuntary eye movements	1968	EIF2S3	ORPHA:85282
HP:0012547	Abnormal involuntary eye movements	81615	TMEM163	OMIM:620243
HP:0012547	Abnormal involuntary eye movements	54936	ADPRS	OMIM:618170
HP:0012547	Abnormal involuntary eye movements	114034	TOE1	ORPHA:284339
HP:0012547	Abnormal involuntary eye movements	114034	TOE1	OMIM:614969
HP:0012547	Abnormal involuntary eye movements	9562	MINPP1	ORPHA:284339
HP:0012547	Abnormal involuntary eye movements	9562	MINPP1	OMIM:619527
HP:0012547	Abnormal involuntary eye movements	84842	HPDL	OMIM:619026
HP:0012547	Abnormal involuntary eye movements	284361	EMC10	OMIM:619264
HP:0012547	Abnormal involuntary eye movements	1414	CRYBB1	OMIM:611544
HP:0012547	Abnormal involuntary eye movements	1414	CRYBB1	ORPHA:1377
HP:0012547	Abnormal involuntary eye movements	8398	PLA2G6	OMIM:610217
HP:0012547	Abnormal involuntary eye movements	8398	PLA2G6	OMIM:256600
HP:0012547	Abnormal involuntary eye movements	8398	PLA2G6	OMIM:612953
HP:0012547	Abnormal involuntary eye movements	8398	PLA2G6	ORPHA:35069
HP:0012547	Abnormal involuntary eye movements	2260	FGFR1	ORPHA:3157
HP:0012547	Abnormal involuntary eye movements	2260	FGFR1	ORPHA:478
HP:0012547	Abnormal involuntary eye movements	128674	PROKR2	ORPHA:3157
HP:0012547	Abnormal involuntary eye movements	128674	PROKR2	ORPHA:478
HP:0012547	Abnormal involuntary eye movements	6657	SOX2	ORPHA:3157
HP:0012547	Abnormal involuntary eye movements	6658	SOX3	ORPHA:3157
HP:0012547	Abnormal involuntary eye movements	9915	ARNT2	ORPHA:3157
HP:0012547	Abnormal involuntary eye movements	8820	HESX1	ORPHA:3157
HP:0012547	Abnormal involuntary eye movements	8820	HESX1	ORPHA:478
HP:0012547	Abnormal involuntary eye movements	5015	OTX2	ORPHA:3157
HP:0012547	Abnormal involuntary eye movements	9898	UBAP2L	OMIM:620494
HP:0012547	Abnormal involuntary eye movements	55129	ANO10	OMIM:613728
HP:0012547	Abnormal involuntary eye movements	4693	NDP	OMIM:305390
HP:0012547	Abnormal involuntary eye movements	4693	NDP	ORPHA:649
HP:0012547	Abnormal involuntary eye movements	6095	RORA	OMIM:618060
HP:0012547	Abnormal involuntary eye movements	50964	SOST	OMIM:269500
HP:0012547	Abnormal involuntary eye movements	10312	TCIRG1	OMIM:259700
HP:0012547	Abnormal involuntary eye movements	10312	TCIRG1	ORPHA:667
HP:0012547	Abnormal involuntary eye movements	10312	TCIRG1	ORPHA:1782
HP:0012547	Abnormal involuntary eye movements	673	BRAF	OMIM:115150
HP:0012547	Abnormal involuntary eye movements	673	BRAF	ORPHA:1340
HP:0012547	Abnormal involuntary eye movements	57539	WDR35	OMIM:613610
HP:0012547	Abnormal involuntary eye movements	57539	WDR35	ORPHA:1515
HP:0012547	Abnormal involuntary eye movements	123263	MTFMT	OMIM:614947
HP:0012547	Abnormal involuntary eye movements	2780	GNAT2	OMIM:613856
HP:0012547	Abnormal involuntary eye movements	79581	SLC52A2	OMIM:614707
HP:0012547	Abnormal involuntary eye movements	64324	NSD1	ORPHA:821
HP:0012547	Abnormal involuntary eye movements	64324	NSD1	OMIM:117550
HP:0012547	Abnormal involuntary eye movements	10297	APC2	ORPHA:821
HP:0012547	Abnormal involuntary eye movements	146167	SLC38A8	OMIM:609218
HP:0012547	Abnormal involuntary eye movements	1638	DCT	OMIM:619165
HP:0012547	Abnormal involuntary eye movements	80055	PGAP1	OMIM:615802
HP:0012547	Abnormal involuntary eye movements	54476	RNF216	OMIM:212840
HP:0012547	Abnormal involuntary eye movements	54476	RNF216	ORPHA:1173
HP:0012547	Abnormal involuntary eye movements	1717	DHCR7	ORPHA:818
HP:0012547	Abnormal involuntary eye movements	1717	DHCR7	OMIM:270400
HP:0012547	Abnormal involuntary eye movements	4758	NEU1	ORPHA:812
HP:0012547	Abnormal involuntary eye movements	4758	NEU1	ORPHA:93400
HP:0012547	Abnormal involuntary eye movements	4758	NEU1	OMIM:256550
HP:0012547	Abnormal involuntary eye movements	4758	NEU1	ORPHA:93399
HP:0012547	Abnormal involuntary eye movements	55780	ERMARD	ORPHA:75857
HP:0012547	Abnormal involuntary eye movements	4884	NPTX1	OMIM:620158
HP:0012547	Abnormal involuntary eye movements	10978	CLP1	OMIM:615803
HP:0012547	Abnormal involuntary eye movements	4038	LRP4	ORPHA:3258
HP:0012547	Abnormal involuntary eye movements	324	APC	ORPHA:3258
HP:0012547	Abnormal involuntary eye movements	87178	PNPT1	ORPHA:319514
HP:0012547	Abnormal involuntary eye movements	87178	PNPT1	OMIM:608703
HP:0012547	Abnormal involuntary eye movements	87178	PNPT1	ORPHA:101111
HP:0012547	Abnormal involuntary eye movements	87178	PNPT1	OMIM:614932
HP:0012547	Abnormal involuntary eye movements	63915	BLOC1S5	OMIM:619172
HP:0012547	Abnormal involuntary eye movements	1185	CLCN6	OMIM:619173
HP:0012547	Abnormal involuntary eye movements	25839	COG4	ORPHA:263501
HP:0012547	Abnormal involuntary eye movements	25839	COG4	OMIM:613489
HP:0012547	Abnormal involuntary eye movements	64207	IRF2BPL	OMIM:618088
HP:0012547	Abnormal involuntary eye movements	55157	DARS2	ORPHA:137898
HP:0012547	Abnormal involuntary eye movements	55157	DARS2	OMIM:611105
HP:0012547	Abnormal involuntary eye movements	8792	TNFRSF11A	OMIM:612301
HP:0012547	Abnormal involuntary eye movements	8792	TNFRSF11A	ORPHA:1782
HP:0012547	Abnormal involuntary eye movements	9570	GOSR2	OMIM:620166
HP:0012547	Abnormal involuntary eye movements	672	BRCA1	ORPHA:84
HP:0012547	Abnormal involuntary eye movements	10459	MAD2L2	ORPHA:84
HP:0012547	Abnormal involuntary eye movements	7516	XRCC2	ORPHA:84
HP:0012547	Abnormal involuntary eye movements	29089	UBE2T	ORPHA:84
HP:0012547	Abnormal involuntary eye movements	675	BRCA2	ORPHA:84
HP:0012547	Abnormal involuntary eye movements	55120	FANCL	ORPHA:84
HP:0012547	Abnormal involuntary eye movements	2177	FANCD2	ORPHA:84
HP:0012547	Abnormal involuntary eye movements	2175	FANCA	ORPHA:84
HP:0012547	Abnormal involuntary eye movements	2187	FANCB	ORPHA:84
HP:0012547	Abnormal involuntary eye movements	2176	FANCC	ORPHA:84
HP:0012547	Abnormal involuntary eye movements	2178	FANCE	ORPHA:84
HP:0012547	Abnormal involuntary eye movements	2188	FANCF	ORPHA:84
HP:0012547	Abnormal involuntary eye movements	2189	FANCG	ORPHA:84
HP:0012547	Abnormal involuntary eye movements	5888	RAD51	ORPHA:84
HP:0012547	Abnormal involuntary eye movements	5889	RAD51C	ORPHA:84
HP:0012547	Abnormal involuntary eye movements	55159	RFWD3	ORPHA:84
HP:0012547	Abnormal involuntary eye movements	83990	BRIP1	ORPHA:84
HP:0012547	Abnormal involuntary eye movements	57697	FANCM	ORPHA:84
HP:0012547	Abnormal involuntary eye movements	79728	PALB2	ORPHA:84
HP:0012547	Abnormal involuntary eye movements	84464	SLX4	ORPHA:84
HP:0012547	Abnormal involuntary eye movements	2072	ERCC4	ORPHA:84
HP:0012547	Abnormal involuntary eye movements	2072	ERCC4	ORPHA:90321
HP:0012547	Abnormal involuntary eye movements	2072	ERCC4	OMIM:278760
HP:0012547	Abnormal involuntary eye movements	2072	ERCC4	ORPHA:220295
HP:0012547	Abnormal involuntary eye movements	55215	FANCI	ORPHA:84
HP:0012547	Abnormal involuntary eye movements	54675	CRLS1	OMIM:620167
HP:0012547	Abnormal involuntary eye movements	823	CAPN1	OMIM:616907
HP:0012547	Abnormal involuntary eye movements	222663	SCUBE3	OMIM:619184
HP:0012547	Abnormal involuntary eye movements	7274	TTPA	ORPHA:96
HP:0012547	Abnormal involuntary eye movements	23036	ZNF292	OMIM:619188
HP:0012547	Abnormal involuntary eye movements	4598	MVK	OMIM:610377
HP:0012547	Abnormal involuntary eye movements	25942	SIN3A	OMIM:613406
HP:0012547	Abnormal involuntary eye movements	25942	SIN3A	ORPHA:94065
HP:0012547	Abnormal involuntary eye movements	7468	NSD2	OMIM:194190
HP:0012547	Abnormal involuntary eye movements	7468	NSD2	ORPHA:280
HP:0012547	Abnormal involuntary eye movements	10815	CPLX1	OMIM:194190
HP:0012547	Abnormal involuntary eye movements	10815	CPLX1	ORPHA:280
HP:0012547	Abnormal involuntary eye movements	1487	CTBP1	OMIM:194190
HP:0012547	Abnormal involuntary eye movements	1487	CTBP1	ORPHA:280
HP:0012547	Abnormal involuntary eye movements	53834	FGFRL1	OMIM:194190
HP:0012547	Abnormal involuntary eye movements	3954	LETM1	OMIM:194190
HP:0012547	Abnormal involuntary eye movements	3954	LETM1	ORPHA:280
HP:0012547	Abnormal involuntary eye movements	3954	LETM1	OMIM:620089
HP:0012547	Abnormal involuntary eye movements	57465	TBC1D24	OMIM:608105
HP:0012547	Abnormal involuntary eye movements	79152	FA2H	OMIM:612319
HP:0012547	Abnormal involuntary eye movements	3475	IFRD1	ORPHA:98771
HP:0012547	Abnormal involuntary eye movements	3752	KCND3	ORPHA:98772
HP:0012547	Abnormal involuntary eye movements	3752	KCND3	OMIM:607346
HP:0012547	Abnormal involuntary eye movements	339453	TMEM240	ORPHA:98773
HP:0012547	Abnormal involuntary eye movements	339453	TMEM240	OMIM:607454
HP:0012547	Abnormal involuntary eye movements	7840	ALMS1	ORPHA:64
HP:0012547	Abnormal involuntary eye movements	7840	ALMS1	OMIM:203800
HP:0012547	Abnormal involuntary eye movements	10383	TUBB4B	ORPHA:65
HP:0012547	Abnormal involuntary eye movements	10383	TUBB4B	OMIM:617879
HP:0012547	Abnormal involuntary eye movements	5130	PCYT1A	ORPHA:65
HP:0012547	Abnormal involuntary eye movements	5130	PCYT1A	OMIM:608940
HP:0012547	Abnormal involuntary eye movements	5130	PCYT1A	ORPHA:85167
HP:0012547	Abnormal involuntary eye movements	9657	IQCB1	ORPHA:65
HP:0012547	Abnormal involuntary eye movements	7025	NR2F1	ORPHA:401777
HP:0012547	Abnormal involuntary eye movements	7025	NR2F1	OMIM:615722
HP:0012547	Abnormal involuntary eye movements	90624	LYRM7	OMIM:615838
HP:0012547	Abnormal involuntary eye movements	3748	KCNC3	ORPHA:98768
HP:0012547	Abnormal involuntary eye movements	3748	KCNC3	OMIM:605259
HP:0012547	Abnormal involuntary eye movements	493856	CISD2	ORPHA:3463
HP:0012547	Abnormal involuntary eye movements	7466	WFS1	ORPHA:3463
HP:0012547	Abnormal involuntary eye movements	7466	WFS1	OMIM:222300
HP:0012547	Abnormal involuntary eye movements	11128	POLR3A	OMIM:264090
HP:0012547	Abnormal involuntary eye movements	11128	POLR3A	ORPHA:3455
HP:0012547	Abnormal involuntary eye movements	11128	POLR3A	ORPHA:447896
HP:0012547	Abnormal involuntary eye movements	8379	MAD1L1	OMIM:620189
HP:0012547	Abnormal involuntary eye movements	80704	SLC19A3	OMIM:607483
HP:0012547	Abnormal involuntary eye movements	724066	ATXN8	ORPHA:98760
HP:0012547	Abnormal involuntary eye movements	724066	ATXN8	OMIM:608768
HP:0012547	Abnormal involuntary eye movements	6315	ATXN8OS	ORPHA:98760
HP:0012547	Abnormal involuntary eye movements	6315	ATXN8OS	OMIM:608768
HP:0012547	Abnormal involuntary eye movements	23503	ZFYVE26	OMIM:270700
HP:0012547	Abnormal involuntary eye movements	23503	ZFYVE26	ORPHA:100996
HP:0012547	Abnormal involuntary eye movements	25814	ATXN10	ORPHA:98761
HP:0012547	Abnormal involuntary eye movements	25814	ATXN10	OMIM:603516
HP:0012547	Abnormal involuntary eye movements	1737	DLAT	OMIM:245348
HP:0012547	Abnormal involuntary eye movements	492	ATP2B3	OMIM:302500
HP:0012547	Abnormal involuntary eye movements	4784	NFIX	OMIM:614753
HP:0012547	Abnormal involuntary eye movements	4784	NFIX	ORPHA:420179
HP:0012547	Abnormal involuntary eye movements	64135	IFIH1	OMIM:615846
HP:0012547	Abnormal involuntary eye movements	64135	IFIH1	ORPHA:51
HP:0012547	Abnormal involuntary eye movements	1910	EDNRB	OMIM:277580
HP:0012547	Abnormal involuntary eye movements	6311	ATXN2	ORPHA:98756
HP:0012547	Abnormal involuntary eye movements	6310	ATXN1	ORPHA:98755
HP:0012547	Abnormal involuntary eye movements	6310	ATXN1	OMIM:164400
HP:0012547	Abnormal involuntary eye movements	9101	USP8	ORPHA:401795
HP:0012547	Abnormal involuntary eye movements	8813	DPM1	OMIM:608799
HP:0012547	Abnormal involuntary eye movements	8813	DPM1	ORPHA:79322
HP:0012547	Abnormal involuntary eye movements	27086	FOXP1	OMIM:613670
HP:0012547	Abnormal involuntary eye movements	27086	FOXP1	ORPHA:391372
HP:0012547	Abnormal involuntary eye movements	340024	SLC6A19	ORPHA:2116
HP:0012547	Abnormal involuntary eye movements	57393	CLTRN	ORPHA:2116
HP:0012547	Abnormal involuntary eye movements	55149	MTPAP	OMIM:613672
HP:0012547	Abnormal involuntary eye movements	55149	MTPAP	ORPHA:254343
HP:0012547	Abnormal involuntary eye movements	6390	SDHB	ORPHA:3208
HP:0012547	Abnormal involuntary eye movements	6392	SDHD	ORPHA:3208
HP:0012547	Abnormal involuntary eye movements	644096	SDHAF1	ORPHA:3208
HP:0012547	Abnormal involuntary eye movements	2961	GTF2E2	OMIM:616943
HP:0012547	Abnormal involuntary eye movements	2961	GTF2E2	ORPHA:33364
HP:0012547	Abnormal involuntary eye movements	64116	SLC39A8	ORPHA:468699
HP:0012547	Abnormal involuntary eye movements	64116	SLC39A8	OMIM:616721
HP:0012547	Abnormal involuntary eye movements	200403	VWA3B	OMIM:616948
HP:0012547	Abnormal involuntary eye movements	3166	HMX1	OMIM:612109
HP:0012547	Abnormal involuntary eye movements	6314	ATXN7	ORPHA:94147
HP:0012547	Abnormal involuntary eye movements	6314	ATXN7	OMIM:164500
HP:0012547	Abnormal involuntary eye movements	701	BUB1B	OMIM:257300
HP:0012547	Abnormal involuntary eye movements	28962	OSTM1	OMIM:259720
HP:0012547	Abnormal involuntary eye movements	10682	EBP	OMIM:302960
HP:0012547	Abnormal involuntary eye movements	6567	SLC16A2	ORPHA:59
HP:0012547	Abnormal involuntary eye movements	5428	POLG	OMIM:607459
HP:0012547	Abnormal involuntary eye movements	5428	POLG	ORPHA:70595
HP:0012547	Abnormal involuntary eye movements	9990	SLC12A6	ORPHA:1496
HP:0012547	Abnormal involuntary eye movements	57165	GJC2	OMIM:613206
HP:0012547	Abnormal involuntary eye movements	57165	GJC2	OMIM:608804
HP:0012547	Abnormal involuntary eye movements	57724	EPG5	ORPHA:1493
HP:0012547	Abnormal involuntary eye movements	57724	EPG5	OMIM:242840
HP:0012547	Abnormal involuntary eye movements	9230	RAB11B	OMIM:617807
HP:0012547	Abnormal involuntary eye movements	10535	RNASEH2A	ORPHA:51
HP:0012547	Abnormal involuntary eye movements	84153	RNASEH2C	ORPHA:51
HP:0012547	Abnormal involuntary eye movements	84153	RNASEH2C	OMIM:610329
HP:0012547	Abnormal involuntary eye movements	25939	SAMHD1	ORPHA:51
HP:0012547	Abnormal involuntary eye movements	79621	RNASEH2B	ORPHA:51
HP:0012547	Abnormal involuntary eye movements	4976	OPA1	OMIM:210000
HP:0012547	Abnormal involuntary eye movements	4976	OPA1	ORPHA:98673
HP:0012547	Abnormal involuntary eye movements	54704	PDP1	OMIM:608782
HP:0012547	Abnormal involuntary eye movements	7490	WT1	OMIM:106210
HP:0012547	Abnormal involuntary eye movements	7490	WT1	ORPHA:893
HP:0012547	Abnormal involuntary eye movements	84181	CHD6	ORPHA:2108
HP:0012547	Abnormal involuntary eye movements	8600	TNFSF11	OMIM:259710
HP:0012547	Abnormal involuntary eye movements	8600	TNFSF11	ORPHA:667
HP:0012547	Abnormal involuntary eye movements	10075	HUWE1	OMIM:309590
HP:0012547	Abnormal involuntary eye movements	8733	GPAA1	OMIM:617810
HP:0012547	Abnormal involuntary eye movements	8733	GPAA1	ORPHA:529665
HP:0012547	Abnormal involuntary eye movements	79848	CSPP1	OMIM:615636
HP:0012547	Abnormal involuntary eye movements	79848	CSPP1	ORPHA:475
HP:0012547	Abnormal involuntary eye movements	4308	TRPM1	OMIM:613216
HP:0012547	Abnormal involuntary eye movements	4308	TRPM1	ORPHA:215
HP:0012547	Abnormal involuntary eye movements	10586	MAB21L2	OMIM:615877
HP:0012547	Abnormal involuntary eye movements	785	CACNB4	OMIM:607682
HP:0012547	Abnormal involuntary eye movements	55593	OTUD5	OMIM:301056
HP:0012547	Abnormal involuntary eye movements	91147	TMEM67	OMIM:216360
HP:0012547	Abnormal involuntary eye movements	91147	TMEM67	ORPHA:1454
HP:0012547	Abnormal involuntary eye movements	91147	TMEM67	ORPHA:475
HP:0012547	Abnormal involuntary eye movements	91147	TMEM67	OMIM:613550
HP:0012547	Abnormal involuntary eye movements	91147	TMEM67	OMIM:615991
HP:0012547	Abnormal involuntary eye movements	9150	CTDP1	OMIM:604168
HP:0012547	Abnormal involuntary eye movements	9150	CTDP1	ORPHA:48431
HP:0012547	Abnormal involuntary eye movements	1806	DPYD	OMIM:274270
HP:0012547	Abnormal involuntary eye movements	1806	DPYD	ORPHA:1675
HP:0012547	Abnormal involuntary eye movements	84816	RTN4IP1	OMIM:616732
HP:0012547	Abnormal involuntary eye movements	2782	GNB1	OMIM:616973
HP:0012547	Abnormal involuntary eye movements	2782	GNB1	ORPHA:488613
HP:0012547	Abnormal involuntary eye movements	5076	PAX2	ORPHA:1475
HP:0012547	Abnormal involuntary eye movements	5076	PAX2	ORPHA:97362
HP:0012547	Abnormal involuntary eye movements	5076	PAX2	OMIM:120330
HP:0012547	Abnormal involuntary eye movements	8085	KMT2D	ORPHA:2322
HP:0012547	Abnormal involuntary eye movements	7403	KDM6A	ORPHA:2322
HP:0012547	Abnormal involuntary eye movements	7403	KDM6A	OMIM:300867
HP:0012547	Abnormal involuntary eye movements	57505	AARS2	OMIM:615889
HP:0012547	Abnormal involuntary eye movements	79644	SRD5A3	OMIM:612379
HP:0012547	Abnormal involuntary eye movements	79644	SRD5A3	ORPHA:324737
HP:0012547	Abnormal involuntary eye movements	10413	YAP1	ORPHA:1473
HP:0012547	Abnormal involuntary eye movements	50	ACO2	OMIM:614559
HP:0012547	Abnormal involuntary eye movements	3778	KCNMA1	ORPHA:79137
HP:0012547	Abnormal involuntary eye movements	3778	KCNMA1	OMIM:618729
HP:0012547	Abnormal involuntary eye movements	4810	NHS	OMIM:302350
HP:0012547	Abnormal involuntary eye movements	4810	NHS	ORPHA:627
HP:0012547	Abnormal involuntary eye movements	4694	NDUFA1	OMIM:301020
HP:0012547	Abnormal involuntary eye movements	4694	NDUFA1	ORPHA:2609
HP:0012547	Abnormal involuntary eye movements	4041	LRP5	ORPHA:2790
HP:0012547	Abnormal involuntary eye movements	27235	COQ2	OMIM:607426
HP:0012547	Abnormal involuntary eye movements	23732	FRRS1L	OMIM:616981
HP:0012547	Abnormal involuntary eye movements	9401	RECQL4	ORPHA:1225
HP:0012547	Abnormal involuntary eye movements	440435	GPR179	OMIM:614565
HP:0012547	Abnormal involuntary eye movements	440435	GPR179	ORPHA:215
HP:0012547	Abnormal involuntary eye movements	10560	SLC19A2	OMIM:249270
HP:0012547	Abnormal involuntary eye movements	6326	SCN2A	OMIM:618924
HP:0012547	Abnormal involuntary eye movements	4358	MPV17	OMIM:256810
HP:0012547	Abnormal involuntary eye movements	3796	KIF2A	OMIM:615411
HP:0012547	Abnormal involuntary eye movements	91137	SLC25A46	OMIM:616505
HP:0012547	Abnormal involuntary eye movements	91137	SLC25A46	ORPHA:2254
HP:0012547	Abnormal involuntary eye movements	259232	NALCN	OMIM:615419
HP:0012547	Abnormal involuntary eye movements	259232	NALCN	ORPHA:371364
HP:0012547	Abnormal involuntary eye movements	79583	TMEM231	ORPHA:2318
HP:0012547	Abnormal involuntary eye movements	79583	TMEM231	ORPHA:2754
HP:0012547	Abnormal involuntary eye movements	51524	TMEM138	ORPHA:2318
HP:0012547	Abnormal involuntary eye movements	23090	ZNF423	ORPHA:2318
HP:0012547	Abnormal involuntary eye movements	55764	IFT122	OMIM:218330
HP:0012547	Abnormal involuntary eye movements	55764	IFT122	ORPHA:1515
HP:0012547	Abnormal involuntary eye movements	149461	CLDN19	OMIM:248190
HP:0012547	Abnormal involuntary eye movements	149461	CLDN19	ORPHA:2196
HP:0012547	Abnormal involuntary eye movements	5981	RFC1	OMIM:614575
HP:0012547	Abnormal involuntary eye movements	9750	RIPOR2	OMIM:616515
HP:0012547	Abnormal involuntary eye movements	9361	LONP1	ORPHA:1458
HP:0012547	Abnormal involuntary eye movements	23476	BRD4	ORPHA:199
HP:0012547	Abnormal involuntary eye movements	9126	SMC3	ORPHA:199
HP:0012547	Abnormal involuntary eye movements	8243	SMC1A	ORPHA:199
HP:0012547	Abnormal involuntary eye movements	6878	TAF6	ORPHA:199
HP:0012547	Abnormal involuntary eye movements	55869	HDAC8	ORPHA:199
HP:0012547	Abnormal involuntary eye movements	5885	RAD21	ORPHA:199
HP:0012547	Abnormal involuntary eye movements	64840	PORCN	OMIM:305600
HP:0012547	Abnormal involuntary eye movements	9997	SCO2	OMIM:604377
HP:0012547	Abnormal involuntary eye movements	157680	VPS13B	ORPHA:193
HP:0012547	Abnormal involuntary eye movements	8270	LAGE3	OMIM:301006
HP:0012547	Abnormal involuntary eye movements	131669	UROC1	OMIM:276880
HP:0012547	Abnormal involuntary eye movements	64857	PLEKHG2	OMIM:616763
HP:0012547	Abnormal involuntary eye movements	80781	COL18A1	OMIM:267750
HP:0012547	Abnormal involuntary eye movements	80781	COL18A1	ORPHA:1571
HP:0012547	Abnormal involuntary eye movements	23556	PIGN	ORPHA:280633
HP:0012547	Abnormal involuntary eye movements	23556	PIGN	OMIM:614080
HP:0012547	Abnormal involuntary eye movements	26503	SLC17A5	OMIM:604369
HP:0012547	Abnormal involuntary eye movements	26503	SLC17A5	OMIM:269920
HP:0012547	Abnormal involuntary eye movements	2893	GRIA4	OMIM:617864
HP:0012547	Abnormal involuntary eye movements	60482	SLC5A7	ORPHA:98914
HP:0012547	Abnormal involuntary eye movements	4649	MYO9A	ORPHA:98914
HP:0012547	Abnormal involuntary eye movements	4649	MYO9A	OMIM:618198
HP:0012547	Abnormal involuntary eye movements	1305	COL13A1	ORPHA:98914
HP:0012547	Abnormal involuntary eye movements	1103	CHAT	ORPHA:98914
HP:0012547	Abnormal involuntary eye movements	6576	SLC25A1	ORPHA:98914
HP:0012547	Abnormal involuntary eye movements	6843	VAMP1	ORPHA:98914
HP:0012547	Abnormal involuntary eye movements	375790	AGRN	ORPHA:98914
HP:0012547	Abnormal involuntary eye movements	127833	SYT2	ORPHA:98914
HP:0012547	Abnormal involuntary eye movements	6572	SLC18A3	ORPHA:98914
HP:0012547	Abnormal involuntary eye movements	6616	SNAP25	ORPHA:98914
HP:0012547	Abnormal involuntary eye movements	6785	ELOVL4	OMIM:133190
HP:0012547	Abnormal involuntary eye movements	6785	ELOVL4	ORPHA:1955
HP:0012547	Abnormal involuntary eye movements	84628	NTNG2	OMIM:618718
HP:0012547	Abnormal involuntary eye movements	5456	POU3F4	ORPHA:1435
HP:0012547	Abnormal involuntary eye movements	652	BMP4	ORPHA:139471
HP:0012547	Abnormal involuntary eye movements	652	BMP4	OMIM:607932
HP:0012547	Abnormal involuntary eye movements	8913	CACNA1G	ORPHA:458803
HP:0012547	Abnormal involuntary eye movements	23247	KATNIP	OMIM:616784
HP:0012547	Abnormal involuntary eye movements	23247	KATNIP	ORPHA:475
HP:0012547	Abnormal involuntary eye movements	7518	XRCC4	OMIM:616541
HP:0012547	Abnormal involuntary eye movements	6651	SON	ORPHA:500150
HP:0012547	Abnormal involuntary eye movements	4724	NDUFS4	OMIM:252010
HP:0012547	Abnormal involuntary eye movements	4724	NDUFS4	ORPHA:2609
HP:0012547	Abnormal involuntary eye movements	387	RHOA	OMIM:618727
HP:0012547	Abnormal involuntary eye movements	85378	TUBGCP6	ORPHA:2518
HP:0012547	Abnormal involuntary eye movements	85378	TUBGCP6	OMIM:251270
HP:0012547	Abnormal involuntary eye movements	10733	PLK4	ORPHA:2518
HP:0012547	Abnormal involuntary eye movements	23533	PIK3R5	OMIM:615217
HP:0012547	Abnormal involuntary eye movements	8139	GAN	OMIM:256850
HP:0012547	Abnormal involuntary eye movements	9851	KIAA0753	ORPHA:2754
HP:0012547	Abnormal involuntary eye movements	9851	KIAA0753	ORPHA:475
HP:0012547	Abnormal involuntary eye movements	26123	TCTN3	ORPHA:2754
HP:0012547	Abnormal involuntary eye movements	26123	TCTN3	ORPHA:475
HP:0012547	Abnormal involuntary eye movements	5147	PDE6D	ORPHA:2754
HP:0012547	Abnormal involuntary eye movements	5147	PDE6D	ORPHA:475
HP:0012547	Abnormal involuntary eye movements	317662	FAM149B1	ORPHA:2754
HP:0012547	Abnormal involuntary eye movements	374654	KIF7	ORPHA:2754
HP:0012547	Abnormal involuntary eye movements	374654	KIF7	OMIM:200990
HP:0012547	Abnormal involuntary eye movements	9699	RIMS2	OMIM:618970
HP:0012547	Abnormal involuntary eye movements	29925	GMPPB	ORPHA:363623
HP:0012547	Abnormal involuntary eye movements	29925	GMPPB	OMIM:615351
HP:0012547	Abnormal involuntary eye movements	29925	GMPPB	OMIM:615352
HP:0012547	Abnormal involuntary eye movements	8884	SLC5A6	OMIM:618973
HP:0012547	Abnormal involuntary eye movements	57647	DHX37	OMIM:618731
HP:0012547	Abnormal involuntary eye movements	3832	KIF11	OMIM:152950
HP:0012547	Abnormal involuntary eye movements	4747	NEFL	OMIM:617882
HP:0012547	Abnormal involuntary eye movements	64221	ROBO3	ORPHA:2744
HP:0012547	Abnormal involuntary eye movements	64221	ROBO3	OMIM:607313
HP:0012547	Abnormal involuntary eye movements	1630	DCC	ORPHA:2744
HP:0012547	Abnormal involuntary eye movements	1630	DCC	ORPHA:478
HP:0012547	Abnormal involuntary eye movements	529	ATP6V1E1	OMIM:617402
HP:0012547	Abnormal involuntary eye movements	170302	ARX	ORPHA:2508
HP:0012547	Abnormal involuntary eye movements	170302	ARX	OMIM:300004
HP:0012547	Abnormal involuntary eye movements	498	ATP5F1A	OMIM:615228
HP:0012547	Abnormal involuntary eye movements	498	ATP5F1A	ORPHA:254913
HP:0012547	Abnormal involuntary eye movements	5274	SERPINI1	OMIM:604218
HP:0012547	Abnormal involuntary eye movements	1409	CRYAA	OMIM:604219
HP:0012547	Abnormal involuntary eye movements	1409	CRYAA	ORPHA:1377
HP:0012547	Abnormal involuntary eye movements	23646	PLD3	OMIM:617770
HP:0012547	Abnormal involuntary eye movements	25915	NDUFAF3	ORPHA:2609
HP:0012547	Abnormal involuntary eye movements	51103	NDUFAF1	ORPHA:2609
HP:0012547	Abnormal involuntary eye movements	91942	NDUFAF2	ORPHA:2609
HP:0012547	Abnormal involuntary eye movements	91942	NDUFAF2	OMIM:618233
HP:0012547	Abnormal involuntary eye movements	51300	TIMMDC1	ORPHA:2609
HP:0012547	Abnormal involuntary eye movements	51300	TIMMDC1	OMIM:618251
HP:0012547	Abnormal involuntary eye movements	4716	NDUFB10	ORPHA:2609
HP:0012547	Abnormal involuntary eye movements	4723	NDUFV1	ORPHA:2609
HP:0012547	Abnormal involuntary eye movements	55572	FOXRED1	ORPHA:2609
HP:0012547	Abnormal involuntary eye movements	284184	NDUFAF8	ORPHA:2609
HP:0012547	Abnormal involuntary eye movements	55863	TMEM126B	ORPHA:2609
HP:0012547	Abnormal involuntary eye movements	4535	MT-ND1	ORPHA:2609
HP:0012547	Abnormal involuntary eye movements	4535	MT-ND1	ORPHA:255210
HP:0012547	Abnormal involuntary eye movements	4537	MT-ND3	ORPHA:2609
HP:0012547	Abnormal involuntary eye movements	4537	MT-ND3	ORPHA:255210
HP:0012547	Abnormal involuntary eye movements	4729	NDUFV2	ORPHA:2609
HP:0012547	Abnormal involuntary eye movements	4729	NDUFV2	OMIM:618229
HP:0012547	Abnormal involuntary eye movements	4720	NDUFS2	ORPHA:2609
HP:0012547	Abnormal involuntary eye movements	4720	NDUFS2	OMIM:618228
HP:0012547	Abnormal involuntary eye movements	4726	NDUFS6	ORPHA:2609
HP:0012547	Abnormal involuntary eye movements	4726	NDUFS6	OMIM:618232
HP:0012547	Abnormal involuntary eye movements	4728	NDUFS8	ORPHA:2609
HP:0012547	Abnormal involuntary eye movements	4728	NDUFS8	OMIM:618222
HP:0012547	Abnormal involuntary eye movements	4722	NDUFS3	ORPHA:2609
HP:0012547	Abnormal involuntary eye movements	79133	NDUFAF5	ORPHA:2609
HP:0012547	Abnormal involuntary eye movements	79133	NDUFAF5	OMIM:618238
HP:0012547	Abnormal involuntary eye movements	126328	NDUFA11	ORPHA:2609
HP:0012547	Abnormal involuntary eye movements	126328	NDUFA11	OMIM:618236
HP:0012547	Abnormal involuntary eye movements	4709	NDUFB3	ORPHA:2609
HP:0012547	Abnormal involuntary eye movements	80224	NUBPL	ORPHA:2609
HP:0012547	Abnormal involuntary eye movements	80224	NUBPL	OMIM:618242
HP:0012547	Abnormal involuntary eye movements	29078	NDUFAF4	ORPHA:2609
HP:0012547	Abnormal involuntary eye movements	29078	NDUFAF4	OMIM:618237
HP:0012547	Abnormal involuntary eye movements	374291	NDUFS7	ORPHA:2609
HP:0012547	Abnormal involuntary eye movements	4700	NDUFA6	ORPHA:2609
HP:0012547	Abnormal involuntary eye movements	4536	MT-ND2	ORPHA:2609
HP:0012547	Abnormal involuntary eye movements	4536	MT-ND2	ORPHA:255210
HP:0012547	Abnormal involuntary eye movements	4719	NDUFS1	ORPHA:2609
HP:0012547	Abnormal involuntary eye movements	4719	NDUFS1	OMIM:618226
HP:0012547	Abnormal involuntary eye movements	4715	NDUFB9	ORPHA:2609
HP:0012547	Abnormal involuntary eye movements	4099	MAG	OMIM:616680
HP:0012547	Abnormal involuntary eye movements	4099	MAG	ORPHA:459056
HP:0012547	Abnormal involuntary eye movements	27247	NFU1	OMIM:620938
HP:0012547	Abnormal involuntary eye movements	6873	TAF2	OMIM:615599
HP:0012547	Abnormal involuntary eye movements	2895	GRID2	OMIM:616204
HP:0012547	Abnormal involuntary eye movements	5361	PLXNA1	OMIM:619955
HP:0012547	Abnormal involuntary eye movements	84942	WDR73	OMIM:251300
HP:0012547	Abnormal involuntary eye movements	10060	ABCC9	OMIM:619719
HP:0012547	Abnormal involuntary eye movements	2067	ERCC1	ORPHA:90322
HP:0012547	Abnormal involuntary eye movements	2067	ERCC1	OMIM:610758
HP:0012547	Abnormal involuntary eye movements	6720	SREBF1	OMIM:158310
HP:0012547	Abnormal involuntary eye movements	4538	MT-ND4	ORPHA:255210
HP:0012547	Abnormal involuntary eye movements	4567	MT-TL1	ORPHA:255210
HP:0012547	Abnormal involuntary eye movements	4578	MT-TW	ORPHA:255210
HP:0012547	Abnormal involuntary eye movements	4577	MT-TV	ORPHA:255210
HP:0012547	Abnormal involuntary eye movements	4540	MT-ND5	ORPHA:255210
HP:0012547	Abnormal involuntary eye movements	4541	MT-ND6	ORPHA:255210
HP:0012547	Abnormal involuntary eye movements	4566	MT-TK	ORPHA:255210
HP:0012547	Abnormal involuntary eye movements	65267	WNK3	OMIM:309610
HP:0012547	Abnormal involuntary eye movements	3020	H3-3A	OMIM:619720
HP:0012547	Abnormal involuntary eye movements	65082	VPS33A	OMIM:617303
HP:0012547	Abnormal involuntary eye movements	65082	VPS33A	ORPHA:505248
HP:0012547	Abnormal involuntary eye movements	3145	HMBS	OMIM:620711
HP:0012547	Abnormal involuntary eye movements	57156	TMEM63C	OMIM:619966
HP:0012547	Abnormal involuntary eye movements	112752	IFT43	ORPHA:1515
HP:0012547	Abnormal involuntary eye movements	51098	IFT52	ORPHA:1515
HP:0012547	Abnormal involuntary eye movements	51098	IFT52	OMIM:617102
HP:0012547	Abnormal involuntary eye movements	57728	WDR19	ORPHA:1515
HP:0012547	Abnormal involuntary eye movements	10559	SLC35A1	OMIM:603585
HP:0012547	Abnormal involuntary eye movements	146057	TTBK2	OMIM:604432
HP:0012547	Abnormal involuntary eye movements	9289	ADGRG1	OMIM:606854
HP:0012547	Abnormal involuntary eye movements	9289	ADGRG1	ORPHA:98889
HP:0012547	Abnormal involuntary eye movements	2590	GALNT2	OMIM:618885
HP:0012547	Abnormal involuntary eye movements	816	CAMK2B	OMIM:617799
HP:0012547	Abnormal involuntary eye movements	56172	ANKH	OMIM:123000
HP:0012547	Abnormal involuntary eye movements	8560	DEGS1	OMIM:618404
HP:0012547	Abnormal involuntary eye movements	83480	PUS3	ORPHA:488627
HP:0012547	Abnormal involuntary eye movements	5832	ALDH18A1	OMIM:601162
HP:0012547	Abnormal involuntary eye movements	7020	TFAP2A	OMIM:113620
HP:0012547	Abnormal involuntary eye movements	343641	TGM6	ORPHA:276193
HP:0012547	Abnormal involuntary eye movements	10715	CERS1	OMIM:616230
HP:0012547	Abnormal involuntary eye movements	54872	PIGG	ORPHA:280
HP:0012547	Abnormal involuntary eye movements	7469	NELFA	ORPHA:280
HP:0012547	Abnormal involuntary eye movements	84504	NKX6-2	OMIM:617560
HP:0012547	Abnormal involuntary eye movements	84504	NKX6-2	ORPHA:527497
HP:0012547	Abnormal involuntary eye movements	283987	HID1	OMIM:619983
HP:0012547	Abnormal involuntary eye movements	6712	SPTBN2	OMIM:615386
HP:0012547	Abnormal involuntary eye movements	6712	SPTBN2	ORPHA:352403
HP:0012547	Abnormal involuntary eye movements	80208	SPG11	ORPHA:2822
HP:0012547	Abnormal involuntary eye movements	80208	SPG11	ORPHA:300605
HP:0012547	Abnormal involuntary eye movements	9731	CEP104	OMIM:619988
HP:0012547	Abnormal involuntary eye movements	9731	CEP104	ORPHA:475
HP:0012547	Abnormal involuntary eye movements	7855	FZD5	OMIM:620731
HP:0012547	Abnormal involuntary eye movements	79731	NARS2	OMIM:616239
HP:0012547	Abnormal involuntary eye movements	3476	IGBP1	ORPHA:52055
HP:0012547	Abnormal involuntary eye movements	3476	IGBP1	OMIM:300472
HP:0012547	Abnormal involuntary eye movements	57167	SALL4	ORPHA:233
HP:0012547	Abnormal involuntary eye movements	57167	SALL4	ORPHA:959
HP:0012547	Abnormal involuntary eye movements	9935	MAFB	ORPHA:233
HP:0012547	Abnormal involuntary eye movements	1123	CHN1	ORPHA:233
HP:0012547	Abnormal involuntary eye movements	79600	TCTN1	ORPHA:475
HP:0012547	Abnormal involuntary eye movements	51684	SUFU	ORPHA:475
HP:0012547	Abnormal involuntary eye movements	51684	SUFU	OMIM:617757
HP:0012547	Abnormal involuntary eye movements	200894	ARL13B	ORPHA:475
HP:0012547	Abnormal involuntary eye movements	219844	HYLS1	ORPHA:475
HP:0012547	Abnormal involuntary eye movements	219854	TMEM218	ORPHA:475
HP:0012547	Abnormal involuntary eye movements	9786	KIAA0586	ORPHA:475
HP:0012547	Abnormal involuntary eye movements	79867	TCTN2	ORPHA:475
HP:0012547	Abnormal involuntary eye movements	79867	TCTN2	OMIM:616654
HP:0012547	Abnormal involuntary eye movements	80776	B9D2	ORPHA:475
HP:0012547	Abnormal involuntary eye movements	10464	PIBF1	ORPHA:475
HP:0012547	Abnormal involuntary eye movements	80210	ARMC9	ORPHA:475
HP:0012547	Abnormal involuntary eye movements	23116	TOGARAM1	ORPHA:475
HP:0012547	Abnormal involuntary eye movements	25776	CBY1	ORPHA:475
HP:0012547	Abnormal involuntary eye movements	27077	B9D1	ORPHA:475
HP:0012547	Abnormal involuntary eye movements	3981	LIG4	ORPHA:235
HP:0012547	Abnormal involuntary eye movements	54888	NSUN2	ORPHA:235
HP:0012547	Abnormal involuntary eye movements	1947	EFNB1	OMIM:304110
HP:0012547	Abnormal involuntary eye movements	1499	CTNNB1	OMIM:617572
HP:0012547	Abnormal involuntary eye movements	1182	CLCN3	OMIM:619512
HP:0012547	Abnormal involuntary eye movements	1182	CLCN3	OMIM:619517
HP:0012547	Abnormal involuntary eye movements	51604	PIGT	OMIM:615398
HP:0012547	Abnormal involuntary eye movements	51604	PIGT	ORPHA:369837
HP:0012547	Abnormal involuntary eye movements	54914	FOCAD	OMIM:619991
HP:0012547	Abnormal involuntary eye movements	55699	IARS2	OMIM:616007
HP:0012547	Abnormal involuntary eye movements	54902	TTC19	OMIM:615157
HP:0012547	Abnormal involuntary eye movements	2550	GABBR1	OMIM:620502
HP:0012547	Abnormal involuntary eye movements	286	ANK1	ORPHA:251066
HP:0012547	Abnormal involuntary eye movements	7337	UBE3A	OMIM:105830
HP:0012547	Abnormal involuntary eye movements	6638	SNRPN	OMIM:105830
HP:0012547	Abnormal involuntary eye movements	56052	ALG1	ORPHA:79327
HP:0012547	Abnormal involuntary eye movements	11234	HPS5	OMIM:614074
HP:0012547	Abnormal involuntary eye movements	4669	NAGLU	OMIM:616491
HP:0012547	Abnormal involuntary eye movements	84343	HPS3	OMIM:614072
HP:0012547	Abnormal involuntary eye movements	388552	BLOC1S3	OMIM:614077
HP:0012547	Abnormal involuntary eye movements	79803	HPS6	OMIM:614075
HP:0012547	Abnormal involuntary eye movements	84062	DTNBP1	OMIM:614076
HP:0012547	Abnormal involuntary eye movements	4849	CNOT3	OMIM:618672
HP:0012547	Abnormal involuntary eye movements	59336	PRDM13	OMIM:619761
HP:0012547	Abnormal involuntary eye movements	59336	PRDM13	OMIM:619909
HP:0012547	Abnormal involuntary eye movements	22	ABCB7	ORPHA:2802
HP:0012547	Abnormal involuntary eye movements	22	ABCB7	OMIM:301310
HP:0012547	Abnormal involuntary eye movements	1356	CP	ORPHA:48818
HP:0012547	Abnormal involuntary eye movements	9338	TCEAL1	OMIM:301094
HP:0012547	Abnormal involuntary eye movements	345193	LRIT3	ORPHA:215
HP:0012547	Abnormal involuntary eye movements	2916	GRM6	ORPHA:215
HP:0012547	Abnormal involuntary eye movements	6011	GRK1	ORPHA:215
HP:0012547	Abnormal involuntary eye movements	6011	GRK1	ORPHA:75382
HP:0012547	Abnormal involuntary eye movements	9187	SLC24A1	ORPHA:215
HP:0012547	Abnormal involuntary eye movements	2779	GNAT1	ORPHA:215
HP:0012547	Abnormal involuntary eye movements	60506	NYX	ORPHA:215
HP:0012547	Abnormal involuntary eye movements	2556	GABRA3	OMIM:301091
HP:0012547	Abnormal involuntary eye movements	23162	MAPK8IP3	OMIM:618443
HP:0012547	Abnormal involuntary eye movements	9319	TRIP13	OMIM:617598
HP:0012547	Abnormal involuntary eye movements	85365	ALG2	OMIM:607906
HP:0012547	Abnormal involuntary eye movements	57479	PRR12	OMIM:619539
HP:0012547	Abnormal involuntary eye movements	11152	WDR45	OMIM:615179
HP:0012547	Abnormal involuntary eye movements	83938	LRMDA	OMIM:615179
HP:0012547	Abnormal involuntary eye movements	6683	SPAST	OMIM:182601
HP:0012547	Abnormal involuntary eye movements	23189	KANK1	OMIM:612900
HP:0012547	Abnormal involuntary eye movements	404672	GTF2H5	ORPHA:33364
HP:0012547	Abnormal involuntary eye movements	833	CARS1	ORPHA:33364
HP:0012547	Abnormal involuntary eye movements	7737	RNF113A	ORPHA:33364
HP:0012547	Abnormal involuntary eye movements	6897	TARS1	ORPHA:33364
HP:0012547	Abnormal involuntary eye movements	2071	ERCC3	ORPHA:33364
HP:0012547	Abnormal involuntary eye movements	2071	ERCC3	ORPHA:220295
HP:0012547	Abnormal involuntary eye movements	10195	ALG3	ORPHA:79321
HP:0012547	Abnormal involuntary eye movements	79053	ALG8	ORPHA:79325
HP:0012547	Abnormal involuntary eye movements	79628	SH3TC2	OMIM:601596
HP:0012547	Abnormal involuntary eye movements	79628	SH3TC2	ORPHA:99949
HP:0012547	Abnormal involuntary eye movements	3845	KRAS	OMIM:600268
HP:0012547	Abnormal involuntary eye movements	3845	KRAS	ORPHA:648
HP:0012547	Abnormal involuntary eye movements	3845	KRAS	ORPHA:1340
HP:0012547	Abnormal involuntary eye movements	3845	KRAS	OMIM:609942
HP:0012547	Abnormal involuntary eye movements	81570	CLPB	OMIM:616271
HP:0012547	Abnormal involuntary eye movements	81570	CLPB	ORPHA:445038
HP:0012547	Abnormal involuntary eye movements	1892	ECHS1	OMIM:616277
HP:0012547	Abnormal involuntary eye movements	51117	COQ4	OMIM:616276
HP:0012547	Abnormal involuntary eye movements	5587	PRKD1	OMIM:617364
HP:0012547	Abnormal involuntary eye movements	6709	SPTAN1	OMIM:620538
HP:0012547	Abnormal involuntary eye movements	6709	SPTAN1	OMIM:620540
HP:0012547	Abnormal involuntary eye movements	6857	SYT1	OMIM:618218
HP:0012547	Abnormal involuntary eye movements	6857	SYT1	ORPHA:522077
HP:0012547	Abnormal involuntary eye movements	78987	CRELD1	OMIM:620771
HP:0012547	Abnormal involuntary eye movements	10371	SEMA3A	ORPHA:478
HP:0012547	Abnormal involuntary eye movements	81848	SPRY4	ORPHA:478
HP:0012547	Abnormal involuntary eye movements	23767	FLRT3	ORPHA:478
HP:0012547	Abnormal involuntary eye movements	79625	NDNF	ORPHA:478
HP:0012547	Abnormal involuntary eye movements	2253	FGF8	ORPHA:478
HP:0012547	Abnormal involuntary eye movements	389549	FEZF1	ORPHA:478
HP:0012547	Abnormal involuntary eye movements	3730	ANOS1	ORPHA:478
HP:0012547	Abnormal involuntary eye movements	54756	IL17RD	ORPHA:478
HP:0012547	Abnormal involuntary eye movements	285025	CCDC141	ORPHA:478
HP:0012547	Abnormal involuntary eye movements	60675	PROK2	ORPHA:478
HP:0012547	Abnormal involuntary eye movements	1848	DUSP6	ORPHA:478
HP:0012547	Abnormal involuntary eye movements	6870	TACR3	ORPHA:478
HP:0012547	Abnormal involuntary eye movements	9394	HS6ST1	ORPHA:478
HP:0012547	Abnormal involuntary eye movements	8822	FGF17	ORPHA:478
HP:0012547	Abnormal involuntary eye movements	23111	SPART	OMIM:275900
HP:0012547	Abnormal involuntary eye movements	26277	TINF2	OMIM:268130
HP:0012547	Abnormal involuntary eye movements	5087	PBX1	ORPHA:97362
HP:0012547	Abnormal involuntary eye movements	54892	NCAPG2	OMIM:618460
HP:0012547	Abnormal involuntary eye movements	51728	POLR3K	OMIM:619310
HP:0012547	Abnormal involuntary eye movements	85476	GFM1	OMIM:609060
HP:0012547	Abnormal involuntary eye movements	83548	COG3	OMIM:620546
HP:0012547	Abnormal involuntary eye movements	23345	SYNE1	OMIM:610743
HP:0012547	Abnormal involuntary eye movements	7443	VRK1	OMIM:620542
HP:0012547	Abnormal involuntary eye movements	7443	VRK1	ORPHA:2254
HP:0012547	Abnormal involuntary eye movements	11267	SNF8	OMIM:620784
HP:0012547	Abnormal involuntary eye movements	11267	SNF8	OMIM:620783
HP:0012547	Abnormal involuntary eye movements	84320	ACBD6	OMIM:620785
HP:0012547	Abnormal involuntary eye movements	8675	STX16	ORPHA:94089
HP:0012547	Abnormal involuntary eye movements	1186	CLCN7	ORPHA:667
HP:0012547	Abnormal involuntary eye movements	29887	SNX10	ORPHA:667
HP:0012547	Abnormal involuntary eye movements	6548	SLC9A1	OMIM:616291
HP:0012547	Abnormal involuntary eye movements	26275	HIBCH	ORPHA:88639
HP:0012547	Abnormal involuntary eye movements	26275	HIBCH	OMIM:250620
HP:0012547	Abnormal involuntary eye movements	56521	DNAJC12	OMIM:617384
HP:0012547	Abnormal involuntary eye movements	1436	CSF1R	OMIM:618476
HP:0012547	Abnormal involuntary eye movements	54765	TRIM44	OMIM:617142
HP:0012547	Abnormal involuntary eye movements	54765	TRIM44	ORPHA:250923
HP:0012547	Abnormal involuntary eye movements	1062	CENPE	OMIM:616051
HP:0012547	Abnormal involuntary eye movements	8878	SQSTM1	OMIM:617145
HP:0012547	Abnormal involuntary eye movements	4081	MAB21L1	OMIM:618479
HP:0012547	Abnormal involuntary eye movements	2033	EP300	ORPHA:353284
HP:0012547	Abnormal involuntary eye movements	5010	CLDN11	OMIM:619328
HP:0012547	Abnormal involuntary eye movements	1130	LYST	OMIM:214500
HP:0012547	Abnormal involuntary eye movements	79944	L2HGDH	OMIM:236792
HP:0012547	Abnormal involuntary eye movements	57551	TAOK1	OMIM:619575
HP:0012547	Abnormal involuntary eye movements	4125	MAN2B1	OMIM:248500
HP:0012547	Abnormal involuntary eye movements	400569	MED11	OMIM:620327
HP:0012547	Abnormal involuntary eye movements	29920	PYCR2	ORPHA:481152
HP:0012547	Abnormal involuntary eye movements	29920	PYCR2	OMIM:616420
HP:0012547	Abnormal involuntary eye movements	23203	PMPCA	OMIM:213200
HP:0012547	Abnormal involuntary eye movements	22845	DOLK	OMIM:610768
HP:0012547	Abnormal involuntary eye movements	55750	AGK	OMIM:212350
HP:0012547	Abnormal involuntary eye movements	55750	AGK	ORPHA:1369
HP:0012547	Abnormal involuntary eye movements	6898	TAT	ORPHA:28378
HP:0012547	Abnormal involuntary eye movements	112812	FDX2	OMIM:251900
HP:0012547	Abnormal involuntary eye movements	2332	FMR1	OMIM:300623
HP:0012547	Abnormal involuntary eye movements	2705	GJB1	OMIM:302800
HP:0012547	Abnormal involuntary eye movements	2705	GJB1	ORPHA:1175
HP:0012547	Abnormal involuntary eye movements	8635	RNASET2	OMIM:612951
HP:0012547	Abnormal involuntary eye movements	1200	TPP1	OMIM:609270
HP:0012547	Abnormal involuntary eye movements	64864	RFX7	OMIM:620330
HP:0012547	Abnormal involuntary eye movements	668	FOXL2	OMIM:110100
HP:0012547	Abnormal involuntary eye movements	668	FOXL2	ORPHA:572333
HP:0012547	Abnormal involuntary eye movements	1938	EEF2	ORPHA:101112
HP:0012547	Abnormal involuntary eye movements	1938	EEF2	OMIM:609306
HP:0012547	Abnormal involuntary eye movements	55229	PANK4	OMIM:619593
HP:0012547	Abnormal involuntary eye movements	145173	B3GLCT	OMIM:261540
HP:0012547	Abnormal involuntary eye movements	145173	B3GLCT	ORPHA:709
HP:0012547	Abnormal involuntary eye movements	388531	RGS9BP	OMIM:620344
HP:0012547	Abnormal involuntary eye movements	6513	SLC2A1	ORPHA:168577
HP:0012547	Abnormal involuntary eye movements	6513	SLC2A1	OMIM:608885
HP:0012547	Abnormal involuntary eye movements	27349	MCAT	OMIM:620583
HP:0012547	Abnormal involuntary eye movements	2132	EXT2	ORPHA:52022
HP:0012547	Abnormal involuntary eye movements	51317	PHF21A	ORPHA:52022
HP:0012547	Abnormal involuntary eye movements	128240	NAXE	OMIM:617186
HP:0012547	Abnormal involuntary eye movements	29123	ANKRD11	ORPHA:261250
HP:0012547	Abnormal involuntary eye movements	10939	AFG3L2	ORPHA:101109
HP:0012547	Abnormal involuntary eye movements	23287	AGTPBP1	OMIM:618276
HP:0012547	Abnormal involuntary eye movements	23287	AGTPBP1	ORPHA:2254
HP:0012547	Abnormal involuntary eye movements	57704	GBA2	ORPHA:320391
HP:0012547	Abnormal involuntary eye movements	57704	GBA2	OMIM:614409
HP:0012547	Abnormal involuntary eye movements	57704	GBA2	ORPHA:352641
HP:0012547	Abnormal involuntary eye movements	627	BDNF	ORPHA:893
HP:0012547	Abnormal involuntary eye movements	6904	TBCD	OMIM:617193
HP:0012547	Abnormal involuntary eye movements	777	CACNA1E	OMIM:618285
HP:0012547	Abnormal involuntary eye movements	4668	NAGA	OMIM:609241
HP:0012547	Abnormal involuntary eye movements	4668	NAGA	ORPHA:79279
HP:0012547	Abnormal involuntary eye movements	1387	CREBBP	ORPHA:353277
HP:0012547	Abnormal involuntary eye movements	9487	PIGL	OMIM:280000
HP:0012547	Abnormal involuntary eye movements	3295	HSD17B4	OMIM:261515
HP:0012547	Abnormal involuntary eye movements	3295	HSD17B4	OMIM:233400
HP:0012547	Abnormal involuntary eye movements	22800	RRAS2	ORPHA:648
HP:0012547	Abnormal involuntary eye movements	867	CBL	ORPHA:648
HP:0012547	Abnormal involuntary eye movements	8216	LZTR1	ORPHA:648
HP:0012547	Abnormal involuntary eye movements	6016	RIT1	ORPHA:648
HP:0012547	Abnormal involuntary eye movements	6237	RRAS	ORPHA:648
HP:0012547	Abnormal involuntary eye movements	5894	RAF1	ORPHA:648
HP:0012547	Abnormal involuntary eye movements	22808	MRAS	ORPHA:648
HP:0012547	Abnormal involuntary eye movements	200734	SPRED2	ORPHA:648
HP:0012547	Abnormal involuntary eye movements	4893	NRAS	ORPHA:648
HP:0012547	Abnormal involuntary eye movements	6654	SOS1	ORPHA:648
HP:0012547	Abnormal involuntary eye movements	6655	SOS2	ORPHA:648
HP:0012547	Abnormal involuntary eye movements	5781	PTPN11	ORPHA:648
HP:0012547	Abnormal involuntary eye movements	5922	RASA2	ORPHA:648
HP:0012547	Abnormal involuntary eye movements	55074	OXR1	OMIM:213000
HP:0012547	Abnormal involuntary eye movements	23040	MYT1L	ORPHA:647799
HP:0012547	Abnormal involuntary eye movements	3735	KARS1	OMIM:619147
HP:0012547	Abnormal involuntary eye movements	27072	VPS41	OMIM:619389
HP:0012547	Abnormal involuntary eye movements	3897	L1CAM	ORPHA:2182
HP:0012547	Abnormal involuntary eye movements	8665	EIF3F	OMIM:618295
HP:0012547	Abnormal involuntary eye movements	60481	ELOVL5	ORPHA:423296
HP:0012547	Abnormal involuntary eye movements	60481	ELOVL5	OMIM:615957
HP:0012547	Abnormal involuntary eye movements	90952	ESAM	OMIM:620371
HP:0012547	Abnormal involuntary eye movements	10128	LRPPRC	OMIM:220111
HP:0012547	Abnormal involuntary eye movements	158	ADSL	OMIM:103050
HP:0012547	Abnormal involuntary eye movements	9131	AIFM1	OMIM:300232
HP:0012547	Abnormal involuntary eye movements	23769	FLRT1	ORPHA:320406
HP:0012547	Abnormal involuntary eye movements	64837	KLC2	ORPHA:320406
HP:0012547	Abnormal involuntary eye movements	64837	KLC2	OMIM:609541
HP:0012547	Abnormal involuntary eye movements	1545	CYP1B1	ORPHA:708
HP:0012547	Abnormal involuntary eye movements	2301	FOXE3	ORPHA:708
HP:0012547	Abnormal involuntary eye movements	2301	FOXE3	OMIM:610256
HP:0012547	Abnormal involuntary eye movements	5308	PITX2	ORPHA:708
HP:0012547	Abnormal involuntary eye movements	2296	FOXC1	ORPHA:708
HP:0012547	Abnormal involuntary eye movements	2296	FOXC1	ORPHA:250923
HP:0012547	Abnormal involuntary eye movements	1119	CHKA	OMIM:620023
HP:0012547	Abnormal involuntary eye movements	8496	PPFIBP1	OMIM:620024
HP:0012547	Abnormal involuntary eye movements	6091	ROBO1	OMIM:257400
HP:0012547	Abnormal involuntary eye movements	4983	OPHN1	OMIM:300486
HP:0012547	Abnormal involuntary eye movements	51218	GLRX5	ORPHA:401866
HP:0012547	Abnormal involuntary eye movements	51218	GLRX5	OMIM:616859
HP:0012547	Abnormal involuntary eye movements	1352	COX10	OMIM:619046
HP:0012547	Abnormal involuntary eye movements	100996717	NOTCH2NLC	ORPHA:2289
HP:0012547	Abnormal involuntary eye movements	23431	AP4E1	OMIM:613744
HP:0012547	Abnormal involuntary eye movements	7102	TSPAN7	OMIM:300210
HP:0012547	Abnormal involuntary eye movements	51360	MBTPS2	ORPHA:2273
HP:0012547	Abnormal involuntary eye movements	57492	ARID1B	OMIM:135900
HP:0012547	Abnormal involuntary eye movements	4509	MT-ATP8	ORPHA:254913
HP:0012547	Abnormal involuntary eye movements	514	ATP5F1E	ORPHA:254913
HP:0012547	Abnormal involuntary eye movements	513	ATP5F1D	ORPHA:254913
HP:0012547	Abnormal involuntary eye movements	84833	ATP5MK	ORPHA:254913
HP:0012547	Abnormal involuntary eye movements	91647	ATPAF2	ORPHA:254913
HP:0012547	Abnormal involuntary eye movements	3899	AFF3	OMIM:619297
HP:0012547	Abnormal involuntary eye movements	55037	PTCD3	OMIM:619057
HP:0012547	Abnormal involuntary eye movements	22897	CEP164	OMIM:614845
HP:0012547	Abnormal involuntary eye movements	8546	AP3B1	OMIM:608233
HP:0012547	Abnormal involuntary eye movements	7276	TTR	OMIM:105210
HP:0012547	Abnormal involuntary eye movements	26090	ABHD12	OMIM:612674
HP:0012547	Abnormal involuntary eye movements	10352	WARS2	ORPHA:572798
HP:0012547	Abnormal involuntary eye movements	10352	WARS2	OMIM:617710
HP:0012547	Abnormal involuntary eye movements	1600	DAB1	OMIM:615945
HP:0012547	Abnormal involuntary eye movements	4338	MOCS2	OMIM:252160
HP:0012547	Abnormal involuntary eye movements	10382	TUBB4A	OMIM:612438
HP:0012547	Abnormal involuntary eye movements	5376	PMP22	ORPHA:3115
HP:0012547	Abnormal involuntary eye movements	5376	PMP22	OMIM:145900
HP:0012547	Abnormal involuntary eye movements	4359	MPZ	ORPHA:3115
HP:0012547	Abnormal involuntary eye movements	4359	MPZ	OMIM:145900
HP:0012547	Abnormal involuntary eye movements	443	ASPA	OMIM:271900
HP:0012547	Abnormal involuntary eye movements	1593	CYP27A1	ORPHA:909
HP:0012547	Abnormal involuntary eye movements	9255	AIMP1	OMIM:260600
HP:0012547	Abnormal involuntary eye movements	5149	PDE6H	OMIM:610024
HP:0012547	Abnormal involuntary eye movements	11340	EXOSC8	ORPHA:2254
HP:0012547	Abnormal involuntary eye movements	5393	EXOSC9	ORPHA:2254
HP:0012547	Abnormal involuntary eye movements	51010	EXOSC3	ORPHA:2254
HP:0012547	Abnormal involuntary eye movements	51010	EXOSC3	OMIM:614678
HP:0012547	Abnormal involuntary eye movements	285175	UNC80	OMIM:616801
HP:0012547	Abnormal involuntary eye movements	285175	UNC80	ORPHA:371364
HP:0012547	Abnormal involuntary eye movements	27286	SRPX2	ORPHA:98889
HP:0012547	Abnormal involuntary eye movements	157570	ESCO2	ORPHA:3103
HP:0012547	Abnormal involuntary eye movements	83475	DOHH	OMIM:620066
HP:0012547	Abnormal involuntary eye movements	10236	HNRNPR	OMIM:620073
HP:0012547	Abnormal involuntary eye movements	2521	FUS	ORPHA:300605
HP:0012547	Abnormal involuntary eye movements	10280	SIGMAR1	ORPHA:300605
HP:0012547	Abnormal involuntary eye movements	10558	SPTLC1	ORPHA:300605
HP:0012547	Abnormal involuntary eye movements	255928	SYT14	ORPHA:284271
HP:0012547	Abnormal involuntary eye movements	26227	PHGDH	OMIM:601815
HP:0012547	Abnormal involuntary eye movements	284217	LAMA1	OMIM:615960
HP:0012547	Abnormal involuntary eye movements	284217	LAMA1	ORPHA:370022
HP:0012547	Abnormal involuntary eye movements	3187	HNRNPH1	OMIM:620083
HP:0012547	Abnormal involuntary eye movements	7355	SLC35A2	OMIM:300896
HP:0012547	Abnormal involuntary eye movements	9968	MED12	OMIM:300895
HP:0012547	Abnormal involuntary eye movements	85021	REPS1	OMIM:617916
HP:0012547	Abnormal involuntary eye movements	4990	SIX6	OMIM:212550
HP:0012547	Abnormal involuntary eye movements	92154	MTSS2	OMIM:620086
HP:0012547	Abnormal involuntary eye movements	84978	FRMD5	OMIM:620094
HP:0012547	Abnormal involuntary eye movements	51067	YARS2	OMIM:613561
HP:0012547	Abnormal involuntary eye movements	2581	GALC	OMIM:245200
HP:0012547	Abnormal involuntary eye movements	2703	GJA8	ORPHA:1377
HP:0012547	Abnormal involuntary eye movements	4094	MAF	ORPHA:1377
HP:0012547	Abnormal involuntary eye movements	1413	CRYBA4	ORPHA:1377
HP:0012547	Abnormal involuntary eye movements	1415	CRYBB2	ORPHA:1377
HP:0012547	Abnormal involuntary eye movements	1421	CRYGD	ORPHA:1377
HP:0012547	Abnormal involuntary eye movements	3329	HSPD1	OMIM:612233
HP:0012547	Abnormal involuntary eye movements	23064	SETX	OMIM:606002
HP:0012547	Abnormal involuntary eye movements	1959	EGR2	OMIM:145900
HP:0012547	Abnormal involuntary eye movements	57716	PRX	OMIM:145900
HP:0012547	Abnormal involuntary eye movements	80207	OPA3	ORPHA:67036
HP:0012547	Abnormal involuntary eye movements	80207	OPA3	ORPHA:67047
HP:0012547	Abnormal involuntary eye movements	9420	CYP7B1	ORPHA:100986
HP:0012547	Abnormal involuntary eye movements	9420	CYP7B1	OMIM:270800
HP:0012547	Abnormal involuntary eye movements	29926	GMPPA	OMIM:615510
HP:0012547	Abnormal involuntary eye movements	27249	MMADHC	OMIM:277410
HP:0012547	Abnormal involuntary eye movements	291	SLC25A4	ORPHA:1369
HP:0012547	Abnormal involuntary eye movements	26007	TKFC	ORPHA:1369
HP:0012547	Abnormal involuntary eye movements	125988	MICOS13	ORPHA:67047
HP:0012547	Abnormal involuntary eye movements	6609	SMPD1	ORPHA:77293
HP:0012547	Abnormal involuntary eye movements	2058	EPRS1	OMIM:617951
HP:0012547	Abnormal involuntary eye movements	26146	TRAF3IP1	OMIM:616629
HP:0012547	Abnormal involuntary eye movements	128989	TANGO2	ORPHA:480864
HP:0012547	Abnormal involuntary eye movements	5582	PRKCG	OMIM:605361
HP:0012547	Abnormal involuntary eye movements	57599	WDR48	ORPHA:401800
HP:0012547	Abnormal involuntary eye movements	1641	DCX	OMIM:300067
HP:0012547	Abnormal involuntary eye movements	54664	TMEM106B	OMIM:617964
HP:0012547	Abnormal involuntary eye movements	1001	CDH3	ORPHA:1573
HP:0012547	Abnormal involuntary eye movements	5062	PAK2	ORPHA:1571
HP:0012547	Abnormal involuntary eye movements	9419	CRIPT	OMIM:615789
HP:0012547	Abnormal involuntary eye movements	27010	TPK1	OMIM:614458
HP:0012547	Abnormal involuntary eye movements	55644	OSGEP	OMIM:617729
HP:0012547	Abnormal involuntary eye movements	79955	PDZD7	ORPHA:231178
HP:0012547	Abnormal involuntary eye movements	25861	WHRN	ORPHA:231178
HP:0012547	Abnormal involuntary eye movements	84059	ADGRV1	ORPHA:231178
HP:0012547	Abnormal involuntary eye movements	7874	USP7	ORPHA:500055
HP:0012547	Abnormal involuntary eye movements	51501	HIKESHI	OMIM:616881
HP:0012547	Abnormal involuntary eye movements	58494	JAM2	OMIM:618824
HP:0012547	Abnormal involuntary eye movements	22931	RAB18	OMIM:614222
HP:0012547	Abnormal involuntary eye movements	4337	MOCS1	OMIM:252150
HP:0012547	Abnormal involuntary eye movements	22934	RPIA	OMIM:608611
HP:0012547	Abnormal involuntary eye movements	4796	TONSL	ORPHA:93357
HP:0012547	Abnormal involuntary eye movements	26047	CNTNAP2	ORPHA:163681
HP:0012547	Abnormal involuntary eye movements	2670	GFAP	ORPHA:363722
HP:0012547	Abnormal involuntary eye movements	2073	ERCC5	ORPHA:220295
HP:0012547	Abnormal involuntary eye movements	5500	PPP1CB	OMIM:617506
HP:0012547	Abnormal involuntary eye movements	100506658	OCLN	OMIM:251290
HP:0012547	Abnormal involuntary eye movements	9197	SLC33A1	OMIM:614482
HP:0012547	Abnormal involuntary eye movements	55023	PHIP	OMIM:617991
HP:0012547	Abnormal involuntary eye movements	200205	IBA57	OMIM:615330
HP:0012547	Abnormal involuntary eye movements	22943	DKK1	ORPHA:268882
HP:0012547	Abnormal involuntary eye movements	1203	CLN5	OMIM:256731
HP:0012547	Abnormal involuntary eye movements	55315	SLC29A3	ORPHA:1782
HP:0012547	Abnormal involuntary eye movements	25974	MMACHC	ORPHA:79282
HP:0012547	Abnormal involuntary eye movements	25974	MMACHC	OMIM:277400
HP:0012547	Abnormal involuntary eye movements	5718	PSMD12	OMIM:617516
HP:0012547	Abnormal involuntary eye movements	23404	EXOSC2	OMIM:617763
HP:0012547	Abnormal involuntary eye movements	22978	NT5C2	OMIM:613162
HP:0012547	Abnormal involuntary eye movements	7543	ZFX	OMIM:301118
HP:0012547	Abnormal involuntary eye movements	547	KIF1A	OMIM:614255
HP:0012547	Abnormal involuntary eye movements	6736	SRY	ORPHA:1772
HP:0012547	Abnormal involuntary eye movements	55753	OGDHL	OMIM:619701
HP:0012547	Abnormal involuntary eye movements	22868	FASTKD2	OMIM:618855
HP:0012547	Abnormal involuntary eye movements	5052	PRDX1	OMIM:277400
HP:0012547	Abnormal involuntary eye movements	267010	RNU12	ORPHA:512260
HP:0012547	Abnormal involuntary eye movements	4287	ATXN3	OMIM:109150
HP:0012547	Abnormal involuntary eye movements	4287	ATXN3	ORPHA:276244
HP:0012547	Abnormal involuntary eye movements	4287	ATXN3	ORPHA:276241
HP:0012547	Abnormal involuntary eye movements	4287	ATXN3	ORPHA:276238
HP:0012547	Abnormal involuntary eye movements	4361	MRE11	ORPHA:251347
HP:0012547	Abnormal involuntary eye movements	4361	MRE11	OMIM:604391
HP:0012547	Abnormal involuntary eye movements	55775	TDP1	ORPHA:94124
HP:0012547	Abnormal involuntary eye movements	2259	FGF14	ORPHA:98764
HP:0012547	Abnormal involuntary eye movements	2259	FGF14	OMIM:193003
HP:0012547	Abnormal involuntary eye movements	55187	VPS13D	OMIM:607317
HP:0012547	Abnormal involuntary eye movements	2911	GRM1	OMIM:614831
HP:0012547	Abnormal involuntary eye movements	7345	UCHL1	OMIM:615491
HP:0012547	Abnormal involuntary eye movements	7436	VLDLR	OMIM:224050
HP:0012547	Abnormal involuntary eye movements	54834	GDAP2	OMIM:618369
HP:0012547	Abnormal involuntary eye movements	10935	PRDX3	OMIM:619862
HP:0012547	Abnormal involuntary eye movements	51271	UBAP1	OMIM:618418
HP:0012547	Abnormal involuntary eye movements	54840	APTX	OMIM:208920
HP:0012547	Abnormal involuntary eye movements	6908	TBP	OMIM:607136
HP:0012547	Abnormal involuntary eye movements	55703	POLR3B	OMIM:607694
HP:0012547	Abnormal involuntary eye movements	11198	SUPT16H	ORPHA:261229
HP:0012547	Abnormal involuntary eye movements	57680	CHD8	ORPHA:261229
HP:0012547	Abnormal involuntary eye movements	10749	KIF1C	ORPHA:397946
HP:0012547	Abnormal involuntary eye movements	10749	KIF1C	OMIM:611302
HP:0012547	Abnormal involuntary eye movements	92935	MARS2	OMIM:611390
HP:0012547	Abnormal involuntary eye movements	92935	MARS2	ORPHA:314603
HP:0012547	Abnormal involuntary eye movements	6834	SURF1	OMIM:616684
HP:0012547	Abnormal involuntary eye movements	1355	COX15	OMIM:615119
HP:0012547	Abnormal involuntary eye movements	347734	SLC35B2	OMIM:620269
HP:0012547	Abnormal involuntary eye movements	11160	ERLIN2	ORPHA:209951
HP:0012547	Abnormal involuntary eye movements	5159	PDGFRB	OMIM:615007
HP:0012547	Abnormal involuntary eye movements	169522	KCNV2	OMIM:610356
HP:0012547	Abnormal involuntary eye movements	3417	IDH1	ORPHA:99646
HP:0012547	Abnormal involuntary eye movements	5934	RBL2	OMIM:619690
HP:0012547	Abnormal involuntary eye movements	56915	EXOSC5	OMIM:619576
HP:0012547	Abnormal involuntary eye movements	55870	ASH1L	OMIM:617796
HP:0012547	Abnormal involuntary eye movements	100131801	PET100	OMIM:619055
HP:0012547	Abnormal involuntary eye movements	3756	KCNH1	OMIM:135500
HP:0012547	Abnormal involuntary eye movements	90167	FRMD7	OMIM:310700
HP:0012547	Abnormal involuntary eye movements	23096	IQSEC2	ORPHA:397933
HP:0012547	Abnormal involuntary eye movements	23327	NEDD4L	OMIM:617201
HP:0012547	Abnormal involuntary eye movements	5660	PSAP	OMIM:610539
HP:0012547	Abnormal involuntary eye movements	2643	GCH1	ORPHA:98808
HP:0012547	Abnormal involuntary eye movements	4929	NR4A2	ORPHA:98808
HP:0012547	Abnormal involuntary eye movements	3615	IMPDH2	ORPHA:98808
HP:0012547	Abnormal involuntary eye movements	9681	DEPDC5	OMIM:620504
HP:0012547	Abnormal involuntary eye movements	3035	HARS1	OMIM:614504
HP:0012547	Abnormal involuntary eye movements	79753	SNIP1	OMIM:614501
HP:0012547	Abnormal involuntary eye movements	89781	HPS4	OMIM:614073
HP:0012547	Abnormal involuntary eye movements	6182	MRPL12	OMIM:618951
HP:0012547	Abnormal involuntary eye movements	122553	TRAPPC6B	OMIM:617862
HP:0012547	Abnormal involuntary eye movements	9474	ATG5	OMIM:617584
HP:0012547	Abnormal involuntary eye movements	2625	GATA3	OMIM:146255
HP:0012547	Abnormal involuntary eye movements	9215	LARGE1	OMIM:608840
HP:0012547	Abnormal involuntary eye movements	3798	KIF5A	OMIM:617235
HP:0012547	Abnormal involuntary eye movements	1804	DPP6	ORPHA:2514
HP:0012547	Abnormal involuntary eye movements	7515	XRCC1	OMIM:617633
HP:0012547	Abnormal involuntary eye movements	57731	SPTBN4	OMIM:617519
HP:0012547	Abnormal involuntary eye movements	84233	TMEM126A	OMIM:612989
HP:0012547	Abnormal involuntary eye movements	84274	COQ5	OMIM:619028
HP:0012547	Abnormal involuntary eye movements	55280	CWF19L1	ORPHA:453521
HP:0012547	Abnormal involuntary eye movements	6804	STX1A	ORPHA:904
HP:0012547	Abnormal involuntary eye movements	7461	CLIP2	ORPHA:904
HP:0012547	Abnormal involuntary eye movements	84277	DNAJC30	ORPHA:904
HP:0012547	Abnormal involuntary eye movements	8468	FKBP6	ORPHA:904
HP:0012547	Abnormal involuntary eye movements	5982	RFC2	ORPHA:904
HP:0012547	Abnormal involuntary eye movements	2969	GTF2I	ORPHA:904
HP:0012547	Abnormal involuntary eye movements	3984	LIMK1	ORPHA:904
HP:0012547	Abnormal involuntary eye movements	9569	GTF2IRD1	ORPHA:904
HP:0012547	Abnormal involuntary eye movements	155382	VPS37D	ORPHA:904
HP:0012547	Abnormal involuntary eye movements	155368	METTL27	ORPHA:904
HP:0012547	Abnormal involuntary eye movements	114049	BUD23	ORPHA:904
HP:0012547	Abnormal involuntary eye movements	7458	EIF4H	ORPHA:904
HP:0012547	Abnormal involuntary eye movements	84163	GTF2IRD2	ORPHA:904
HP:0012547	Abnormal involuntary eye movements	26608	TBL2	ORPHA:904
HP:0012547	Abnormal involuntary eye movements	653361	NCF1	ORPHA:904
HP:0012547	Abnormal involuntary eye movements	135886	TMEM270	ORPHA:904
HP:0012547	Abnormal involuntary eye movements	9031	BAZ1B	ORPHA:904
HP:0012547	Abnormal involuntary eye movements	2006	ELN	ORPHA:904
HP:0012547	Abnormal involuntary eye movements	261734	NPHP4	OMIM:606996
HP:0012547	Abnormal involuntary eye movements	91452	ACBD5	OMIM:618863
HP:0012547	Abnormal involuntary eye movements	5528	PPP2R5D	ORPHA:457279
HP:0012547	Abnormal involuntary eye movements	51660	MPC1	OMIM:614741
HP:0012547	Abnormal involuntary eye movements	9894	TELO2	ORPHA:488642
HP:0012547	Abnormal involuntary eye movements	9894	TELO2	OMIM:616954
HP:0012547	Abnormal involuntary eye movements	8777	MPDZ	OMIM:615219
HP:0012547	Abnormal involuntary eye movements	2671	GFER	ORPHA:330054
HP:0012547	Abnormal involuntary eye movements	129285	PPP1R21	OMIM:619383
HP:0012547	Abnormal involuntary eye movements	55163	PNPO	OMIM:610090
HP:0012547	Abnormal involuntary eye movements	3781	KCNN2	OMIM:619724
HP:0012547	Abnormal involuntary eye movements	2898	GRIK2	OMIM:619580
HP:0012547	Abnormal involuntary eye movements	55503	TRPV6	OMIM:618188
HP:0012547	Abnormal involuntary eye movements	3852	KRT5	ORPHA:79396
HP:0012547	Abnormal involuntary eye movements	3861	KRT14	ORPHA:79396
HP:0012547	Abnormal involuntary eye movements	526	ATP6V1B2	ORPHA:79500
HP:0012547	Abnormal involuntary eye movements	221927	BRAT1	OMIM:618056
HP:0012547	Abnormal involuntary eye movements	29968	PSAT1	ORPHA:284417
HP:0012547	Abnormal involuntary eye movements	2562	GABRB3	ORPHA:64280
HP:0012547	Abnormal involuntary eye movements	2554	GABRA1	ORPHA:64280
HP:0012547	Abnormal involuntary eye movements	8912	CACNA1H	ORPHA:64280
HP:0012547	Abnormal involuntary eye movements	8629	JRK	ORPHA:64280
HP:0012547	Abnormal involuntary eye movements	135	ADORA2A	ORPHA:363549
HP:0012547	Abnormal involuntary eye movements	9181	ARHGEF2	OMIM:617523
HP:0012547	Abnormal involuntary eye movements	53371	NUP54	ORPHA:225154
HP:0012547	Abnormal involuntary eye movements	5081	PAX7	OMIM:618578
HP:0012547	Abnormal involuntary eye movements	54974	THG1L	OMIM:618800
HP:0012547	Abnormal involuntary eye movements	23095	KIF1B	OMIM:256700
HP:0012547	Abnormal involuntary eye movements	2629	GBA1	ORPHA:2072
HP:0012547	Abnormal involuntary eye movements	4613	MYCN	ORPHA:635
HP:0012547	Abnormal involuntary eye movements	238	ALK	ORPHA:635
HP:0012547	Abnormal involuntary eye movements	389421	LIN28B	ORPHA:635
HP:0012547	Abnormal involuntary eye movements	4004	LMO1	ORPHA:635
HP:0012547	Abnormal involuntary eye movements	57531	HACE1	ORPHA:635
HP:0012547	Abnormal involuntary eye movements	8929	PHOX2B	ORPHA:635
HP:0012547	Abnormal involuntary eye movements	11338	U2AF2	OMIM:620535
HP:0012547	Abnormal involuntary eye movements	9091	PIGQ	OMIM:618548
HP:0012547	Abnormal involuntary eye movements	112476	PRRT2	ORPHA:569
HP:0012547	Abnormal involuntary eye movements	2196	FAT2	OMIM:617769
HP:0012547	Abnormal involuntary eye movements	27245	AHDC1	ORPHA:412069
HP:0012547	Abnormal involuntary eye movements	220202	ATOH7	OMIM:221900
HP:0012547	Abnormal involuntary eye movements	611	OPN1SW	ORPHA:88629
HP:0012547	Abnormal involuntary eye movements	9725	TMEM63A	OMIM:618688
HP:0012547	Abnormal involuntary eye movements	5498	PPOX	OMIM:620483
HP:0012547	Abnormal involuntary eye movements	23636	NUP62	OMIM:271930
HP:0012547	Abnormal involuntary eye movements	79718	TBL1XR1	OMIM:602342
HP:0012547	Abnormal involuntary eye movements	79718	TBL1XR1	ORPHA:487825
HP:0012547	Abnormal involuntary eye movements	54681	P4HTM	OMIM:618493
HP:0012547	Abnormal involuntary eye movements	55714	TENM3	OMIM:615145
HP:0012547	Abnormal involuntary eye movements	3149	HMGB3	OMIM:300915
HP:0012547	Abnormal involuntary eye movements	23268	DNMBP	OMIM:618415
HP:0012547	Abnormal involuntary eye movements	8218	CLTCL1	ORPHA:453510
HP:0012547	Abnormal involuntary eye movements	347733	TUBB2B	ORPHA:467166
HP:0012547	Abnormal involuntary eye movements	347733	TUBB2B	ORPHA:45358
HP:0012547	Abnormal involuntary eye movements	7846	TUBA1A	ORPHA:467166
HP:0012547	Abnormal involuntary eye movements	7846	TUBA1A	ORPHA:45358
HP:0012547	Abnormal involuntary eye movements	10381	TUBB3	ORPHA:467166
HP:0012547	Abnormal involuntary eye movements	10381	TUBB3	ORPHA:45358
HP:0012547	Abnormal involuntary eye movements	2760	GM2A	ORPHA:309246
HP:0012547	Abnormal involuntary eye movements	3064	HTT	ORPHA:248111
HP:0012547	Abnormal involuntary eye movements	2903	GRIN2A	ORPHA:289266
HP:0012547	Abnormal involuntary eye movements	10273	STUB1	ORPHA:412057
HP:0012547	Abnormal involuntary eye movements	133686	NADK2	ORPHA:431361
HP:0012547	Abnormal involuntary eye movements	93627	TBCK	ORPHA:488632
HP:0012547	Abnormal involuntary eye movements	55605	KIF21A	ORPHA:45358
HP:0012547	Abnormal involuntary eye movements	401	PHOX2A	ORPHA:45358
HP:0012547	Abnormal involuntary eye movements	84570	COL25A1	ORPHA:45358
HP:0012547	Abnormal involuntary eye movements	3737	KCNA2	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	1759	DNM1	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	8120	AP3B2	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	523	ATP6V1A	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	10991	SLC38A3	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	51343	FZR1	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	3747	KCNC2	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	1917	EEF1A2	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	23219	FBXO28	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	2561	GABRB2	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	8831	SYNGAP1	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	2558	GABRA5	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	2906	GRIN2D	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	116150	NUS1	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	1213	CLTC	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	51741	WWOX	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	23334	SZT2	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	348980	HCN1	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	25977	NECAP1	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	23241	PACS2	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	16	AARS1	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	6334	SCN8A	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	9568	GABBR2	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	2555	GABRA2	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	55152	DALRD3	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	26999	CYFIP2	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	4915	NTRK2	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	25973	PARS2	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	23097	CDK19	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	2257	FGF12	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	5530	PPP3CA	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	478	ATP1A3	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	478	ATP1A3	ORPHA:2131
HP:0012547	Abnormal involuntary eye movements	22906	TRAK1	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	2566	GABRG2	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	7532	YWHAG	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	79876	UBA5	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	6328	SCN3A	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	781	CACNA2D1	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	10659	CELF2	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	774	CACNA1B	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	51412	ACTL6B	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	2290	FOXG1	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	6506	SLC1A2	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	8867	SYNJ1	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	477	ATP1A2	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	477	ATP1A2	ORPHA:2131
HP:0012547	Abnormal involuntary eye movements	3745	KCNB1	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	284111	SLC13A5	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	22866	CNKSR2	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	773	CACNA1A	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	773	CACNA1A	ORPHA:2131
HP:0012547	Abnormal involuntary eye movements	6323	SCN1A	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	79947	DHDDS	ORPHA:442835
HP:0012547	Abnormal involuntary eye movements	6507	SLC1A3	ORPHA:2131
HP:0012547	Abnormal involuntary eye movements	6531	SLC6A3	OMIM:613135
HP:0012548	Fatty replacement of skeletal muscle	7125	TNNC2	OMIM:620161
HP:0012548	Fatty replacement of skeletal muscle	353116	RILPL1	OMIM:619790
HP:0012548	Fatty replacement of skeletal muscle	79784	MYH14	ORPHA:397744
HP:0012548	Fatty replacement of skeletal muscle	2318	FLNC	ORPHA:171445
HP:0012548	Fatty replacement of skeletal muscle	10755	GIPC1	OMIM:618940
HP:0012548	Fatty replacement of skeletal muscle	8106	PABPN1	ORPHA:270
HP:0012548	Fatty replacement of skeletal muscle	56203	LMOD3	OMIM:616165
HP:0012548	Fatty replacement of skeletal muscle	56983	POGLUT1	OMIM:617232
HP:0012548	Fatty replacement of skeletal muscle	7415	VCP	ORPHA:329478
HP:0012548	Fatty replacement of skeletal muscle	7415	VCP	ORPHA:52430
HP:0012548	Fatty replacement of skeletal muscle	80308	FLAD1	OMIM:255100
HP:0012548	Fatty replacement of skeletal muscle	57104	PNPLA2	ORPHA:98908
HP:0012548	Fatty replacement of skeletal muscle	64208	POPDC3	OMIM:618848
HP:0012548	Fatty replacement of skeletal muscle	84466	MEGF10	OMIM:620249
HP:0012548	Fatty replacement of skeletal muscle	311	ANXA11	OMIM:619733
HP:0012548	Fatty replacement of skeletal muscle	825	CAPN3	OMIM:618129
HP:0012548	Fatty replacement of skeletal muscle	8087	FXR1	OMIM:618823
HP:0012548	Fatty replacement of skeletal muscle	1073	CFL2	OMIM:610687
HP:0012548	Fatty replacement of skeletal muscle	122622	ADSS1	ORPHA:482601
HP:0012548	Fatty replacement of skeletal muscle	779	CACNA1S	OMIM:620246
HP:0012548	Fatty replacement of skeletal muscle	779	CACNA1S	ORPHA:681
HP:0012548	Fatty replacement of skeletal muscle	4703	NEB	OMIM:256030
HP:0012548	Fatty replacement of skeletal muscle	4703	NEB	ORPHA:399103
HP:0012548	Fatty replacement of skeletal muscle	10020	GNE	ORPHA:602
HP:0012548	Fatty replacement of skeletal muscle	9499	MYOT	ORPHA:266
HP:0012548	Fatty replacement of skeletal muscle	10049	DNAJB6	ORPHA:34516
HP:0012548	Fatty replacement of skeletal muscle	23676	SMPX	OMIM:301075
HP:0012548	Fatty replacement of skeletal muscle	6329	SCN4A	ORPHA:681
HP:0012548	Fatty replacement of skeletal muscle	10008	KCNE3	ORPHA:681
HP:0012548	Fatty replacement of skeletal muscle	5375	PMP2	OMIM:618279
HP:0012548	Fatty replacement of skeletal muscle	1291	COL6A1	OMIM:158810
HP:0012548	Fatty replacement of skeletal muscle	7273	TTN	OMIM:608807
HP:0012548	Fatty replacement of skeletal muscle	79048	SECISBP2	ORPHA:171706
HP:0012548	Fatty replacement of skeletal muscle	3679	ITGA7	OMIM:613204
HP:0012548	Fatty replacement of skeletal muscle	55072	RNF31	OMIM:620632
HP:0012548	Fatty replacement of skeletal muscle	79147	FKRP	ORPHA:370980
HP:0012548	Fatty replacement of skeletal muscle	2218	FKTN	ORPHA:370980
HP:0012548	Fatty replacement of skeletal muscle	729920	CRPPA	ORPHA:370980
HP:0012548	Fatty replacement of skeletal muscle	10585	POMT1	ORPHA:370980
HP:0012548	Fatty replacement of skeletal muscle	246329	STAC3	OMIM:255995
HP:0012548	Fatty replacement of skeletal muscle	3178	HNRNPA1	ORPHA:52430
HP:0012548	Fatty replacement of skeletal muscle	3181	HNRNPA2B1	ORPHA:52430
HP:0012548	Fatty replacement of skeletal muscle	203859	ANO5	ORPHA:206549
HP:0002395	Lower limb hyperreflexia	3475	IFRD1	ORPHA:98771
HP:0002395	Lower limb hyperreflexia	10749	KIF1C	ORPHA:397946
HP:0002395	Lower limb hyperreflexia	85465	SELENOI	ORPHA:506353
HP:0002395	Lower limb hyperreflexia	9897	WASHC5	OMIM:603563
HP:0002395	Lower limb hyperreflexia	51062	ATL1	ORPHA:100984
HP:0002395	Lower limb hyperreflexia	113612	CYP2U1	OMIM:615030
HP:0002395	Lower limb hyperreflexia	113612	CYP2U1	ORPHA:320411
HP:0002395	Lower limb hyperreflexia	91574	MTRFR	ORPHA:254930
HP:0002395	Lower limb hyperreflexia	57128	LYRM4	OMIM:615595
HP:0002395	Lower limb hyperreflexia	11277	TREX1	OMIM:192315
HP:0002395	Lower limb hyperreflexia	123606	NIPA1	ORPHA:100988
HP:0002395	Lower limb hyperreflexia	2643	GCH1	ORPHA:98808
HP:0002395	Lower limb hyperreflexia	4929	NR4A2	ORPHA:98808
HP:0002395	Lower limb hyperreflexia	3615	IMPDH2	ORPHA:98808
HP:0002395	Lower limb hyperreflexia	3839	KPNA3	OMIM:620106
HP:0002395	Lower limb hyperreflexia	7701	ZNF142	OMIM:618425
HP:0002395	Lower limb hyperreflexia	5361	PLXNA1	OMIM:619955
HP:0002395	Lower limb hyperreflexia	55823	VPS11	OMIM:619637
HP:0002395	Lower limb hyperreflexia	51117	COQ4	OMIM:620666
HP:0002395	Lower limb hyperreflexia	253738	EBF3	ORPHA:96148
HP:0002395	Lower limb hyperreflexia	23345	SYNE1	OMIM:610743
HP:0002395	Lower limb hyperreflexia	9256	TSPOAP1	ORPHA:101150
HP:0002395	Lower limb hyperreflexia	7054	TH	ORPHA:101150
HP:0002395	Lower limb hyperreflexia	7345	UCHL1	OMIM:620221
HP:0002395	Lower limb hyperreflexia	6709	SPTAN1	OMIM:620540
HP:0002395	Lower limb hyperreflexia	10060	ABCC9	OMIM:619719
HP:0002395	Lower limb hyperreflexia	285362	SUMF1	OMIM:272200
HP:0002395	Lower limb hyperreflexia	6687	SPG7	ORPHA:99013
HP:0002395	Lower limb hyperreflexia	6687	SPG7	OMIM:607259
HP:0002395	Lower limb hyperreflexia	51506	UFC1	OMIM:618076
HP:0002395	Lower limb hyperreflexia	10613	ERLIN1	OMIM:615681
HP:0002395	Lower limb hyperreflexia	10939	AFG3L2	ORPHA:101109
HP:0002395	Lower limb hyperreflexia	10939	AFG3L2	OMIM:610246
HP:0002395	Lower limb hyperreflexia	5010	CLDN11	OMIM:619328
HP:0002395	Lower limb hyperreflexia	57156	TMEM63C	OMIM:619966
HP:0002395	Lower limb hyperreflexia	5832	ALDH18A1	OMIM:219150
HP:0002395	Lower limb hyperreflexia	5832	ALDH18A1	ORPHA:447753
HP:0002395	Lower limb hyperreflexia	5832	ALDH18A1	OMIM:601162
HP:0002395	Lower limb hyperreflexia	5832	ALDH18A1	ORPHA:447760
HP:0002395	Lower limb hyperreflexia	9197	SLC33A1	OMIM:612539
HP:0002395	Lower limb hyperreflexia	9215	LARGE1	OMIM:608840
HP:0002395	Lower limb hyperreflexia	10667	FARS2	ORPHA:466722
HP:0002395	Lower limb hyperreflexia	10667	FARS2	OMIM:617046
HP:0002395	Lower limb hyperreflexia	80208	SPG11	OMIM:604360
HP:0002395	Lower limb hyperreflexia	8869	ST3GAL5	OMIM:609056
HP:0002395	Lower limb hyperreflexia	7337	UBE3A	ORPHA:98794
HP:0002395	Lower limb hyperreflexia	7337	UBE3A	ORPHA:98795
HP:0002395	Lower limb hyperreflexia	7337	UBE3A	ORPHA:411511
HP:0002395	Lower limb hyperreflexia	4948	OCA2	ORPHA:98794
HP:0002395	Lower limb hyperreflexia	9101	USP8	ORPHA:401795
HP:0002395	Lower limb hyperreflexia	547	KIF1A	ORPHA:101010
HP:0002395	Lower limb hyperreflexia	65055	REEP1	ORPHA:101011
HP:0002395	Lower limb hyperreflexia	8813	DPM1	OMIM:608799
HP:0002395	Lower limb hyperreflexia	348	APOE	OMIM:607822
HP:0002395	Lower limb hyperreflexia	5663	PSEN1	OMIM:607822
HP:0002395	Lower limb hyperreflexia	8242	KDM5C	OMIM:300534
HP:0002395	Lower limb hyperreflexia	7143	TNR	OMIM:619653
HP:0002395	Lower limb hyperreflexia	5917	RARS1	OMIM:616140
HP:0002395	Lower limb hyperreflexia	339855	KY	ORPHA:496689
HP:0002395	Lower limb hyperreflexia	22943	DKK1	ORPHA:268882
HP:0002395	Lower limb hyperreflexia	51308	REEP2	OMIM:620606
HP:0002395	Lower limb hyperreflexia	51308	REEP2	OMIM:615625
HP:0002395	Lower limb hyperreflexia	8622	PDE8B	OMIM:609161
HP:0002395	Lower limb hyperreflexia	7436	VLDLR	OMIM:224050
HP:0002395	Lower limb hyperreflexia	3930	LBR	OMIM:169400
HP:0002395	Lower limb hyperreflexia	7415	VCP	ORPHA:329475
HP:0002395	Lower limb hyperreflexia	1737	DLAT	ORPHA:79244
HP:0002395	Lower limb hyperreflexia	4556	MT-TE	ORPHA:2596
HP:0002395	Lower limb hyperreflexia	823	CAPN1	OMIM:616907
HP:0002395	Lower limb hyperreflexia	823	CAPN1	ORPHA:488594
HP:0002395	Lower limb hyperreflexia	6872	TAF1	ORPHA:480907
HP:0002395	Lower limb hyperreflexia	10943	MSL3	OMIM:301032
HP:0002395	Lower limb hyperreflexia	2512	FTL	ORPHA:157846
HP:0002395	Lower limb hyperreflexia	3798	KIF5A	ORPHA:100991
HP:0002395	Lower limb hyperreflexia	54903	MKS1	OMIM:617121
HP:0002395	Lower limb hyperreflexia	8295	TRRAP	OMIM:618454
HP:0002395	Lower limb hyperreflexia	84842	HPDL	OMIM:619027
HP:0002395	Lower limb hyperreflexia	23503	ZFYVE26	ORPHA:100996
HP:0002395	Lower limb hyperreflexia	23400	ATP13A2	ORPHA:306674
HP:0002395	Lower limb hyperreflexia	2705	GJB1	OMIM:302800
HP:0002395	Lower limb hyperreflexia	2705	GJB1	ORPHA:1175
HP:0002395	Lower limb hyperreflexia	51271	UBAP1	OMIM:618418
HP:0002395	Lower limb hyperreflexia	11338	U2AF2	OMIM:620535
HP:0002395	Lower limb hyperreflexia	2752	GLUL	OMIM:610015
HP:0002395	Lower limb hyperreflexia	267	AMFR	OMIM:620379
HP:0002395	Lower limb hyperreflexia	4204	MECP2	ORPHA:3077
HP:0002395	Lower limb hyperreflexia	9711	RUBCN	OMIM:615705
HP:0002395	Lower limb hyperreflexia	10908	PNPLA6	OMIM:215470
HP:0002395	Lower limb hyperreflexia	10280	SIGMAR1	OMIM:605726
HP:0002395	Lower limb hyperreflexia	200205	IBA57	ORPHA:468661
HP:0002395	Lower limb hyperreflexia	4841	NONO	ORPHA:466791
HP:0002395	Lower limb hyperreflexia	1327	COX4I1	OMIM:619060
HP:0002395	Lower limb hyperreflexia	3074	HEXB	ORPHA:309155
HP:0002395	Lower limb hyperreflexia	55149	MTPAP	OMIM:613672
HP:0002395	Lower limb hyperreflexia	23204	ARL6IP1	OMIM:615685
HP:0002395	Lower limb hyperreflexia	23204	ARL6IP1	ORPHA:401780
HP:0002395	Lower limb hyperreflexia	6389	SDHA	ORPHA:3208
HP:0002395	Lower limb hyperreflexia	6390	SDHB	ORPHA:3208
HP:0002395	Lower limb hyperreflexia	6392	SDHD	ORPHA:3208
HP:0002395	Lower limb hyperreflexia	644096	SDHAF1	ORPHA:3208
HP:0002395	Lower limb hyperreflexia	5238	PGM3	ORPHA:443811
HP:0002395	Lower limb hyperreflexia	3035	HARS1	OMIM:614504
HP:0002395	Lower limb hyperreflexia	3035	HARS1	OMIM:616625
HP:0002395	Lower limb hyperreflexia	55129	ANO10	OMIM:613728
HP:0002395	Lower limb hyperreflexia	26278	SACS	OMIM:270550
HP:0003390	Sensory axonal neuropathy	9131	AIFM1	ORPHA:238329
HP:0003390	Sensory axonal neuropathy	9131	AIFM1	OMIM:300614
HP:0003390	Sensory axonal neuropathy	9131	AIFM1	OMIM:310490
HP:0003390	Sensory axonal neuropathy	23646	PLD3	OMIM:617770
HP:0003390	Sensory axonal neuropathy	3094	HINT1	ORPHA:324442
HP:0003390	Sensory axonal neuropathy	3094	HINT1	OMIM:137200
HP:0003390	Sensory axonal neuropathy	23345	SYNE1	ORPHA:88644
HP:0003390	Sensory axonal neuropathy	25923	ATL3	OMIM:615632
HP:0003390	Sensory axonal neuropathy	22948	CCT5	ORPHA:139578
HP:0003390	Sensory axonal neuropathy	391356	PTRHD1	OMIM:620747
HP:0003390	Sensory axonal neuropathy	4744	NEFH	OMIM:616924
HP:0003390	Sensory axonal neuropathy	4762	NEUROG1	OMIM:620469
HP:0003390	Sensory axonal neuropathy	7443	VRK1	OMIM:620542
HP:0003390	Sensory axonal neuropathy	5428	POLG	OMIM:258450
HP:0003390	Sensory axonal neuropathy	5428	POLG	ORPHA:94125
HP:0003390	Sensory axonal neuropathy	5428	POLG	ORPHA:254881
HP:0003390	Sensory axonal neuropathy	5428	POLG	ORPHA:254886
HP:0003390	Sensory axonal neuropathy	5428	POLG	OMIM:157640
HP:0003390	Sensory axonal neuropathy	5428	POLG	OMIM:607459
HP:0003390	Sensory axonal neuropathy	64837	KLC2	OMIM:609541
HP:0003390	Sensory axonal neuropathy	2259	FGF14	ORPHA:98764
HP:0003390	Sensory axonal neuropathy	25894	PLEKHG4	ORPHA:98765
HP:0003390	Sensory axonal neuropathy	57165	GJC2	OMIM:608804
HP:0003390	Sensory axonal neuropathy	7084	TK2	ORPHA:254886
HP:0003390	Sensory axonal neuropathy	3074	HEXB	ORPHA:309169
HP:0003390	Sensory axonal neuropathy	6472	SHMT2	OMIM:619121
HP:0003390	Sensory axonal neuropathy	63895	PIEZO2	OMIM:617146
HP:0003390	Sensory axonal neuropathy	56652	TWNK	OMIM:616138
HP:0003390	Sensory axonal neuropathy	56652	TWNK	OMIM:271245
HP:0003390	Sensory axonal neuropathy	56652	TWNK	OMIM:609286
HP:0003390	Sensory axonal neuropathy	56652	TWNK	OMIM:607459
HP:0003390	Sensory axonal neuropathy	22880	MORC2	ORPHA:466768
HP:0003390	Sensory axonal neuropathy	219285	SAMD9L	OMIM:619806
HP:0003390	Sensory axonal neuropathy	3178	HNRNPA1	ORPHA:52430
HP:0003390	Sensory axonal neuropathy	7415	VCP	ORPHA:52430
HP:0003390	Sensory axonal neuropathy	3181	HNRNPA2B1	ORPHA:52430
HP:0003390	Sensory axonal neuropathy	51	ACOX1	OMIM:618960
HP:0003390	Sensory axonal neuropathy	116228	COX20	OMIM:619054
HP:0003390	Sensory axonal neuropathy	7518	XRCC4	OMIM:616541
HP:0003390	Sensory axonal neuropathy	1716	DGUOK	ORPHA:329314
HP:0003390	Sensory axonal neuropathy	1509	CTSD	OMIM:610127
HP:0003390	Sensory axonal neuropathy	823	CAPN1	OMIM:616907
HP:0003390	Sensory axonal neuropathy	8139	GAN	OMIM:256850
HP:0003390	Sensory axonal neuropathy	23400	ATP13A2	ORPHA:513436
HP:0003390	Sensory axonal neuropathy	8449	DHX16	OMIM:618733
HP:0003390	Sensory axonal neuropathy	144165	PRICKLE1	OMIM:612437
HP:0003390	Sensory axonal neuropathy	4000	LMNA	ORPHA:98856
HP:0003390	Sensory axonal neuropathy	2395	FXN	ORPHA:95
HP:0003390	Sensory axonal neuropathy	9927	MFN2	ORPHA:99947
HP:0003390	Sensory axonal neuropathy	4976	OPA1	OMIM:210000
HP:0007249	Decreased number of small peripheral myelinated nerve fibers	4803	NGF	ORPHA:64752
HP:0007249	Decreased number of small peripheral myelinated nerve fibers	4914	NTRK1	ORPHA:64752
HP:0007249	Decreased number of small peripheral myelinated nerve fibers	4914	NTRK1	OMIM:256800
HP:0007249	Decreased number of small peripheral myelinated nerve fibers	4000	LMNA	ORPHA:98856
HP:0007249	Decreased number of small peripheral myelinated nerve fibers	54332	GDAP1	ORPHA:101097
HP:0033376	Alveolar septal thickening	826	CAPNS1	OMIM:620777
HP:0033379	Bilateral superior vena cava	54892	NCAPG2	OMIM:618460
HP:0033379	Bilateral superior vena cava	4087	SMAD2	OMIM:619657
HP:0033379	Bilateral superior vena cava	8772	FADD	OMIM:613759
HP:0033379	Bilateral superior vena cava	55315	SLC29A3	OMIM:602782
HP:0033379	Bilateral superior vena cava	81857	MED25	ORPHA:464738
HP:0033379	Bilateral superior vena cava	100128908	CIROP	OMIM:619702
HP:0033379	Bilateral superior vena cava	5567	PRKACB	OMIM:619143
HP:0033379	Bilateral superior vena cava	7547	ZIC3	OMIM:306955
HP:0033379	Bilateral superior vena cava	93	ACVR2B	OMIM:613751
HP:0033379	Bilateral superior vena cava	10128	LRPPRC	OMIM:220111
HP:0033379	Bilateral superior vena cava	10283	CWC27	OMIM:250410
HP:0033379	Bilateral superior vena cava	55997	CFC1	OMIM:605376
HP:0033380	Nasal chondritis	7317	UBA1	OMIM:301054
HP:0002314	Degeneration of the lateral corticospinal tracts	6253	RTN2	ORPHA:100993
HP:0002314	Degeneration of the lateral corticospinal tracts	51271	UBAP1	ORPHA:100993
HP:0002314	Degeneration of the lateral corticospinal tracts	126129	CPT1C	ORPHA:444099
HP:0002314	Degeneration of the lateral corticospinal tracts	9897	WASHC5	OMIM:603563
HP:0002314	Degeneration of the lateral corticospinal tracts	9897	WASHC5	ORPHA:100989
HP:0002314	Degeneration of the lateral corticospinal tracts	123606	NIPA1	OMIM:600363
HP:0002314	Degeneration of the lateral corticospinal tracts	6687	SPG7	OMIM:607259
HP:0002314	Degeneration of the lateral corticospinal tracts	3839	KPNA3	ORPHA:171612
HP:0002314	Degeneration of the lateral corticospinal tracts	9197	SLC33A1	ORPHA:171863
HP:0002314	Degeneration of the lateral corticospinal tracts	6683	SPAST	OMIM:182601
HP:0002314	Degeneration of the lateral corticospinal tracts	51062	ATL1	OMIM:182600
HP:0002314	Degeneration of the lateral corticospinal tracts	6647	SOD1	OMIM:105400
HP:0002314	Degeneration of the lateral corticospinal tracts	5630	PRPH	OMIM:105400
HP:0002314	Degeneration of the lateral corticospinal tracts	1639	DCTN1	OMIM:105400
HP:0002314	Degeneration of the lateral corticospinal tracts	4744	NEFH	OMIM:105400
HP:0002314	Degeneration of the lateral corticospinal tracts	5354	PLP1	OMIM:312920
HP:0002314	Degeneration of the lateral corticospinal tracts	2521	FUS	ORPHA:275872
HP:0002314	Degeneration of the lateral corticospinal tracts	8878	SQSTM1	ORPHA:275872
HP:0002314	Degeneration of the lateral corticospinal tracts	7415	VCP	ORPHA:275872
HP:0002314	Degeneration of the lateral corticospinal tracts	23435	TARDBP	ORPHA:275872
HP:0002314	Degeneration of the lateral corticospinal tracts	29110	TBK1	ORPHA:275872
HP:0002314	Degeneration of the lateral corticospinal tracts	400916	CHCHD10	ORPHA:275872
HP:0002314	Degeneration of the lateral corticospinal tracts	80208	SPG11	OMIM:604360
HP:0012551	Absent neutrophil specific granules	1053	CEBPE	OMIM:245480
HP:0012551	Absent neutrophil specific granules	6603	SMARCD2	OMIM:617475
HP:0012553	Hypoplastic thumbnail	5281	PIGF	OMIM:619356
HP:0012553	Hypoplastic thumbnail	3756	KCNH1	ORPHA:420561
HP:0012553	Hypoplastic thumbnail	3756	KCNH1	OMIM:611816
HP:0012554	Absent thumbnail	526	ATP6V1B2	OMIM:124480
HP:0012554	Absent thumbnail	526	ATP6V1B2	ORPHA:79499
HP:0012554	Absent thumbnail	6792	CDKL5	ORPHA:1934
HP:0012554	Absent thumbnail	3736	KCNA1	ORPHA:1934
HP:0012554	Absent thumbnail	9091	PIGQ	ORPHA:1934
HP:0012554	Absent thumbnail	140679	SLC32A1	ORPHA:1934
HP:0012554	Absent thumbnail	2775	GNAO1	ORPHA:1934
HP:0012554	Absent thumbnail	81603	TRIM8	ORPHA:1934
HP:0012554	Absent thumbnail	2902	GRIN1	ORPHA:1934
HP:0012554	Absent thumbnail	79751	SLC25A22	ORPHA:1934
HP:0012554	Absent thumbnail	150094	SIK1	ORPHA:1934
HP:0012554	Absent thumbnail	8573	CASK	ORPHA:1934
HP:0012554	Absent thumbnail	23312	DMXL2	ORPHA:1934
HP:0012554	Absent thumbnail	2917	GRM7	ORPHA:1934
HP:0012554	Absent thumbnail	170302	ARX	ORPHA:1934
HP:0012554	Absent thumbnail	11284	PNKP	ORPHA:1934
HP:0012554	Absent thumbnail	6326	SCN2A	ORPHA:1934
HP:0012554	Absent thumbnail	51227	PIGP	ORPHA:1934
HP:0012554	Absent thumbnail	6324	SCN1B	ORPHA:1934
HP:0012554	Absent thumbnail	4761	NEUROD2	ORPHA:1934
HP:0012554	Absent thumbnail	3756	KCNH1	OMIM:611816
HP:0012555	Absent nail of hallux	3756	KCNH1	ORPHA:420561
HP:0012555	Absent nail of hallux	3756	KCNH1	OMIM:611816
HP:0012557	EEG with centrotemporal focal spike waves	23096	IQSEC2	ORPHA:217377
HP:0012557	EEG with centrotemporal focal spike waves	23732	FRRS1L	ORPHA:725
HP:0012557	EEG with centrotemporal focal spike waves	2903	GRIN2A	ORPHA:725
HP:0012557	EEG with centrotemporal focal spike waves	2903	GRIN2A	ORPHA:1945
HP:0012557	EEG with centrotemporal focal spike waves	2903	GRIN2A	OMIM:245570
HP:0012557	EEG with centrotemporal focal spike waves	27286	SRPX2	ORPHA:1945
HP:0012557	EEG with centrotemporal focal spike waves	2566	GABRG2	ORPHA:1945
HP:0012558	Abnormal T3/T4 ratio	7038	TG	OMIM:274700
HP:0012558	Abnormal T3/T4 ratio	7067	THRA	OMIM:614450
HP:0012559	Increased T3/T4 ratio	7038	TG	OMIM:274700
HP:0012559	Increased T3/T4 ratio	7067	THRA	OMIM:614450
HP:0002134	Abnormal basal ganglia morphology	87178	PNPT1	ORPHA:319514
HP:0002134	Abnormal basal ganglia morphology	2639	GCDH	ORPHA:25
HP:0002134	Abnormal basal ganglia morphology	7084	TK2	OMIM:609560
HP:0002134	Abnormal basal ganglia morphology	10381	TUBB3	ORPHA:300570
HP:0002134	Abnormal basal ganglia morphology	170825	GSX2	OMIM:618646
HP:0002134	Abnormal basal ganglia morphology	80704	SLC19A3	OMIM:607483
HP:0002134	Abnormal basal ganglia morphology	80704	SLC19A3	ORPHA:263410
HP:0002134	Abnormal basal ganglia morphology	8050	PDHX	ORPHA:255182
HP:0002134	Abnormal basal ganglia morphology	1376	CPT2	ORPHA:228308
HP:0002134	Abnormal basal ganglia morphology	81570	CLPB	ORPHA:445038
HP:0002134	Abnormal basal ganglia morphology	11128	POLR3A	ORPHA:447896
HP:0002134	Abnormal basal ganglia morphology	79848	CSPP1	ORPHA:397715
HP:0002134	Abnormal basal ganglia morphology	9786	KIAA0586	ORPHA:397715
HP:0002134	Abnormal basal ganglia morphology	2512	FTL	ORPHA:157846
HP:0002134	Abnormal basal ganglia morphology	5621	PRNP	ORPHA:157941
HP:0002134	Abnormal basal ganglia morphology	2232	FDXR	ORPHA:543470
HP:0002134	Abnormal basal ganglia morphology	549	AUH	ORPHA:67046
HP:0002134	Abnormal basal ganglia morphology	8803	SUCLA2	OMIM:612073
HP:0002134	Abnormal basal ganglia morphology	9131	AIFM1	OMIM:300816
HP:0002134	Abnormal basal ganglia morphology	93986	FOXP2	OMIM:602081
HP:0002134	Abnormal basal ganglia morphology	3028	HSD17B10	ORPHA:391428
HP:0002134	Abnormal basal ganglia morphology	2074	ERCC6	OMIM:214150
HP:0002134	Abnormal basal ganglia morphology	2074	ERCC6	OMIM:133540
HP:0002134	Abnormal basal ganglia morphology	2074	ERCC6	ORPHA:90324
HP:0002134	Abnormal basal ganglia morphology	2074	ERCC6	ORPHA:90321
HP:0002134	Abnormal basal ganglia morphology	2074	ERCC6	OMIM:278800
HP:0002134	Abnormal basal ganglia morphology	4558	MT-TF	ORPHA:550
HP:0002134	Abnormal basal ganglia morphology	4572	MT-TQ	ORPHA:550
HP:0002134	Abnormal basal ganglia morphology	4512	MT-CO1	ORPHA:550
HP:0002134	Abnormal basal ganglia morphology	4513	MT-CO2	ORPHA:550
HP:0002134	Abnormal basal ganglia morphology	4514	MT-CO3	ORPHA:550
HP:0002134	Abnormal basal ganglia morphology	4578	MT-TW	ORPHA:550
HP:0002134	Abnormal basal ganglia morphology	4540	MT-ND5	ORPHA:550
HP:0002134	Abnormal basal ganglia morphology	4541	MT-ND6	ORPHA:550
HP:0002134	Abnormal basal ganglia morphology	4535	MT-ND1	ORPHA:550
HP:0002134	Abnormal basal ganglia morphology	4538	MT-ND4	ORPHA:550
HP:0002134	Abnormal basal ganglia morphology	4567	MT-TL1	ORPHA:550
HP:0002134	Abnormal basal ganglia morphology	4574	MT-TS1	ORPHA:550
HP:0002134	Abnormal basal ganglia morphology	4575	MT-TS2	ORPHA:550
HP:0002134	Abnormal basal ganglia morphology	4564	MT-TH	ORPHA:550
HP:0002134	Abnormal basal ganglia morphology	113612	CYP2U1	OMIM:615030
HP:0002134	Abnormal basal ganglia morphology	79621	RNASEH2B	OMIM:610181
HP:0002134	Abnormal basal ganglia morphology	58494	JAM2	OMIM:618824
HP:0002134	Abnormal basal ganglia morphology	1161	ERCC8	ORPHA:90324
HP:0002134	Abnormal basal ganglia morphology	1161	ERCC8	ORPHA:90321
HP:0002134	Abnormal basal ganglia morphology	1161	ERCC8	OMIM:216400
HP:0002134	Abnormal basal ganglia morphology	9636	ISG15	OMIM:616126
HP:0002134	Abnormal basal ganglia morphology	79903	NAA60	OMIM:620786
HP:0002134	Abnormal basal ganglia morphology	2072	ERCC4	ORPHA:90321
HP:0002134	Abnormal basal ganglia morphology	54209	TREM2	OMIM:618193
HP:0002134	Abnormal basal ganglia morphology	5932	RBBP8	OMIM:606744
HP:0002134	Abnormal basal ganglia morphology	100147744	RNU7-1	OMIM:619487
HP:0002134	Abnormal basal ganglia morphology	2767	GNA11	OMIM:615361
HP:0002134	Abnormal basal ganglia morphology	11277	TREX1	OMIM:225750
HP:0002134	Abnormal basal ganglia morphology	5155	PDGFB	OMIM:615483
HP:0002134	Abnormal basal ganglia morphology	5155	PDGFB	OMIM:213600
HP:0002134	Abnormal basal ganglia morphology	134353	LSM11	OMIM:619486
HP:0002134	Abnormal basal ganglia morphology	9213	XPR1	OMIM:616413
HP:0002134	Abnormal basal ganglia morphology	2625	GATA3	OMIM:146255
HP:0002134	Abnormal basal ganglia morphology	64135	IFIH1	OMIM:615846
HP:0002134	Abnormal basal ganglia morphology	5159	PDGFRB	OMIM:615007
HP:0002134	Abnormal basal ganglia morphology	5159	PDGFRB	OMIM:213600
HP:0002134	Abnormal basal ganglia morphology	57462	MYORG	OMIM:618317
HP:0002134	Abnormal basal ganglia morphology	5698	PSMB9	OMIM:620796
HP:0002134	Abnormal basal ganglia morphology	760	CA2	OMIM:259730
HP:0002134	Abnormal basal ganglia morphology	760	CA2	ORPHA:2785
HP:0002134	Abnormal basal ganglia morphology	10059	DNM1L	ORPHA:98673
HP:0002134	Abnormal basal ganglia morphology	4976	OPA1	ORPHA:98673
HP:0002134	Abnormal basal ganglia morphology	90	ACVR1	OMIM:135100
HP:0002134	Abnormal basal ganglia morphology	2778	GNAS	OMIM:612462
HP:0002134	Abnormal basal ganglia morphology	2778	GNAS	ORPHA:79443
HP:0002134	Abnormal basal ganglia morphology	2778	GNAS	ORPHA:79444
HP:0002134	Abnormal basal ganglia morphology	2778	GNAS	OMIM:103580
HP:0002134	Abnormal basal ganglia morphology	727676	SNORD118	ORPHA:542310
HP:0002134	Abnormal basal ganglia morphology	91137	SLC25A46	OMIM:616505
HP:0002134	Abnormal basal ganglia morphology	6575	SLC20A2	OMIM:213600
HP:0002134	Abnormal basal ganglia morphology	63901	FAM111A	OMIM:127000
HP:0002134	Abnormal basal ganglia morphology	63901	FAM111A	ORPHA:93325
HP:0002134	Abnormal basal ganglia morphology	56984	PSMG2	OMIM:619183
HP:0002134	Abnormal basal ganglia morphology	846	CASR	OMIM:601198
HP:0002134	Abnormal basal ganglia morphology	23258	DENND5A	OMIM:617281
HP:0002134	Abnormal basal ganglia morphology	23404	EXOSC2	OMIM:617763
HP:0002134	Abnormal basal ganglia morphology	7305	TYROBP	OMIM:221770
HP:0002134	Abnormal basal ganglia morphology	2071	ERCC3	OMIM:610651
HP:0002134	Abnormal basal ganglia morphology	113235	SLC46A1	OMIM:229050
HP:0002134	Abnormal basal ganglia morphology	25939	SAMHD1	OMIM:612952
HP:0002134	Abnormal basal ganglia morphology	5696	PSMB8	OMIM:256040
HP:0002134	Abnormal basal ganglia morphology	2697	GJA1	OMIM:164200
HP:0002134	Abnormal basal ganglia morphology	8905	AP1S2	OMIM:304340
HP:0002134	Abnormal basal ganglia morphology	90952	ESAM	OMIM:620371
HP:0002134	Abnormal basal ganglia morphology	1641	DCX	ORPHA:2148
HP:0002134	Abnormal basal ganglia morphology	23400	ATP13A2	ORPHA:314632
HP:0002134	Abnormal basal ganglia morphology	1678	TIMM8A	ORPHA:52368
HP:0002134	Abnormal basal ganglia morphology	26580	BSCL2	ORPHA:363400
HP:0002134	Abnormal basal ganglia morphology	440	ASNS	OMIM:615574
HP:0002134	Abnormal basal ganglia morphology	4750	NEK1	OMIM:617892
HP:0002134	Abnormal basal ganglia morphology	79133	NDUFAF5	OMIM:618238
HP:0002134	Abnormal basal ganglia morphology	4983	OPHN1	ORPHA:137831
HP:0002134	Abnormal basal ganglia morphology	1593	CYP27A1	ORPHA:909
HP:0002134	Abnormal basal ganglia morphology	80347	COASY	ORPHA:397725
HP:0002134	Abnormal basal ganglia morphology	3785	KCNQ2	ORPHA:439218
HP:0002134	Abnormal basal ganglia morphology	3712	IVD	ORPHA:33
HP:0002134	Abnormal basal ganglia morphology	5430	POLR2A	OMIM:618603
HP:0002134	Abnormal basal ganglia morphology	4594	MMUT	OMIM:251000
HP:0002134	Abnormal basal ganglia morphology	55532	SLC30A10	ORPHA:309854
HP:0002134	Abnormal basal ganglia morphology	3417	IDH1	ORPHA:99646
HP:0002134	Abnormal basal ganglia morphology	11152	WDR45	OMIM:300894
HP:0002134	Abnormal basal ganglia morphology	27072	VPS41	OMIM:619389
HP:0002134	Abnormal basal ganglia morphology	83636	C19orf12	OMIM:614298
HP:0002134	Abnormal basal ganglia morphology	80025	PANK2	ORPHA:216866
HP:0002134	Abnormal basal ganglia morphology	80025	PANK2	OMIM:234200
HP:0002134	Abnormal basal ganglia morphology	79152	FA2H	ORPHA:171629
HP:0002134	Abnormal basal ganglia morphology	2495	FTH1	OMIM:620669
HP:0002134	Abnormal basal ganglia morphology	318	NUDT2	OMIM:619844
HP:0002134	Abnormal basal ganglia morphology	8398	PLA2G6	ORPHA:35069
HP:0002134	Abnormal basal ganglia morphology	1737	DLAT	ORPHA:79244
HP:0002134	Abnormal basal ganglia morphology	85476	GFM1	OMIM:609060
HP:0002134	Abnormal basal ganglia morphology	4508	MT-ATP6	ORPHA:225154
HP:0002134	Abnormal basal ganglia morphology	23636	NUP62	ORPHA:225154
HP:0002134	Abnormal basal ganglia morphology	53371	NUP54	ORPHA:225154
HP:0002134	Abnormal basal ganglia morphology	103	ADAR	ORPHA:225154
HP:0002134	Abnormal basal ganglia morphology	9361	LONP1	ORPHA:79243
HP:0002134	Abnormal basal ganglia morphology	5160	PDHA1	ORPHA:79243
HP:0002134	Abnormal basal ganglia morphology	5160	PDHA1	OMIM:312170
HP:0002134	Abnormal basal ganglia morphology	22	ABCB7	OMIM:301310
HP:0002134	Abnormal basal ganglia morphology	9997	SCO2	OMIM:604377
HP:0002134	Abnormal basal ganglia morphology	7443	VRK1	OMIM:607596
HP:0002134	Abnormal basal ganglia morphology	10667	FARS2	OMIM:614946
HP:0002134	Abnormal basal ganglia morphology	8622	PDE8B	OMIM:609161
HP:0002134	Abnormal basal ganglia morphology	9839	ZEB2	ORPHA:261537
HP:0002134	Abnormal basal ganglia morphology	9839	ZEB2	ORPHA:261552
HP:0002134	Abnormal basal ganglia morphology	9839	ZEB2	OMIM:235730
HP:0002134	Abnormal basal ganglia morphology	545	ATR	OMIM:210600
HP:0002134	Abnormal basal ganglia morphology	91869	RFT1	ORPHA:244310
HP:0002134	Abnormal basal ganglia morphology	131118	DNAJC19	ORPHA:66634
HP:0002134	Abnormal basal ganglia morphology	1355	COX15	OMIM:615119
HP:0002134	Abnormal basal ganglia morphology	435	ASL	ORPHA:23
HP:0002134	Abnormal basal ganglia morphology	51204	TACO1	OMIM:619052
HP:0002134	Abnormal basal ganglia morphology	4536	MT-ND2	ORPHA:255210
HP:0002134	Abnormal basal ganglia morphology	4537	MT-ND3	ORPHA:255210
HP:0002134	Abnormal basal ganglia morphology	4577	MT-TV	ORPHA:255210
HP:0002134	Abnormal basal ganglia morphology	4566	MT-TK	ORPHA:255210
HP:0002134	Abnormal basal ganglia morphology	4724	NDUFS4	OMIM:252010
HP:0002134	Abnormal basal ganglia morphology	2670	GFAP	ORPHA:363717
HP:0002134	Abnormal basal ganglia morphology	57107	PDSS2	OMIM:614652
HP:0002134	Abnormal basal ganglia morphology	4719	NDUFS1	OMIM:618226
HP:0002134	Abnormal basal ganglia morphology	10128	LRPPRC	ORPHA:70472
HP:0002134	Abnormal basal ganglia morphology	1356	CP	ORPHA:48818
HP:0002134	Abnormal basal ganglia morphology	10846	PDE10A	ORPHA:494541
HP:0002134	Abnormal basal ganglia morphology	10846	PDE10A	OMIM:616922
HP:0002134	Abnormal basal ganglia morphology	54820	NDE1	ORPHA:2177
HP:0002134	Abnormal basal ganglia morphology	57338	JPH3	ORPHA:98934
HP:0002134	Abnormal basal ganglia morphology	120892	LRRK2	OMIM:607060
HP:0002134	Abnormal basal ganglia morphology	5071	PRKN	OMIM:600116
HP:0002134	Abnormal basal ganglia morphology	2629	GBA1	OMIM:168600
HP:0002134	Abnormal basal ganglia morphology	126	ADH1C	OMIM:168600
HP:0002134	Abnormal basal ganglia morphology	4576	MT-TT	OMIM:168600
HP:0002134	Abnormal basal ganglia morphology	9627	SNCAIP	OMIM:168600
HP:0002134	Abnormal basal ganglia morphology	6908	TBP	OMIM:168600
HP:0002134	Abnormal basal ganglia morphology	6315	ATXN8OS	OMIM:168600
HP:0002134	Abnormal basal ganglia morphology	25793	FBXO7	ORPHA:171695
HP:0002134	Abnormal basal ganglia morphology	6622	SNCA	ORPHA:171695
HP:0002134	Abnormal basal ganglia morphology	137682	NDUFAF6	OMIM:618239
HP:0002134	Abnormal basal ganglia morphology	6905	TBCE	ORPHA:496756
HP:0002134	Abnormal basal ganglia morphology	23230	VPS13A	ORPHA:2388
HP:0002134	Abnormal basal ganglia morphology	54187	NANS	OMIM:610442
HP:0002134	Abnormal basal ganglia morphology	93627	TBCK	OMIM:616900
HP:0002134	Abnormal basal ganglia morphology	26275	HIBCH	ORPHA:88639
HP:0002134	Abnormal basal ganglia morphology	1528	CYB5A	ORPHA:621
HP:0002134	Abnormal basal ganglia morphology	1727	CYB5R3	ORPHA:621
HP:0002134	Abnormal basal ganglia morphology	8506	CNTNAP1	OMIM:616286
HP:0002134	Abnormal basal ganglia morphology	85365	ALG2	ORPHA:79326
HP:0002134	Abnormal basal ganglia morphology	23474	ETHE1	ORPHA:51188
HP:0002134	Abnormal basal ganglia morphology	2737	GLI3	ORPHA:672
HP:0002134	Abnormal basal ganglia morphology	10367	MICU1	ORPHA:401768
HP:0002134	Abnormal basal ganglia morphology	8802	SUCLG1	ORPHA:17
HP:0002134	Abnormal basal ganglia morphology	443	ASPA	ORPHA:314918
HP:0002134	Abnormal basal ganglia morphology	56947	MFF	ORPHA:485421
HP:0002134	Abnormal basal ganglia morphology	133686	NADK2	ORPHA:431361
HP:0002134	Abnormal basal ganglia morphology	54148	MRPL39	OMIM:620646
HP:0002134	Abnormal basal ganglia morphology	22868	FASTKD2	OMIM:618855
HP:0002134	Abnormal basal ganglia morphology	84705	GTPBP3	ORPHA:444013
HP:0002134	Abnormal basal ganglia morphology	56997	COQ8A	ORPHA:139485
HP:0002134	Abnormal basal ganglia morphology	55823	VPS11	OMIM:619637
HP:0002134	Abnormal basal ganglia morphology	2720	GLB1	ORPHA:79255
HP:0002134	Abnormal basal ganglia morphology	5654	HTRA1	OMIM:616779
HP:0002134	Abnormal basal ganglia morphology	7846	TUBA1A	ORPHA:171680
HP:0002134	Abnormal basal ganglia morphology	157922	CAMSAP1	OMIM:620316
HP:0002134	Abnormal basal ganglia morphology	347733	TUBB2B	ORPHA:300573
HP:0002134	Abnormal basal ganglia morphology	203068	TUBB	OMIM:615771
HP:0002134	Abnormal basal ganglia morphology	51102	MECR	ORPHA:508093
HP:0002134	Abnormal basal ganglia morphology	26523	AGO1	OMIM:620292
HP:0002134	Abnormal basal ganglia morphology	129607	CMPK2	OMIM:621018
HP:0002134	Abnormal basal ganglia morphology	5903	RANBP2	ORPHA:88619
HP:0002134	Abnormal basal ganglia morphology	23446	SLC44A1	OMIM:618868
HP:0002134	Abnormal basal ganglia morphology	9757	KMT2B	ORPHA:589618
HP:0002134	Abnormal basal ganglia morphology	54676	GTPBP2	OMIM:617988
HP:0002134	Abnormal basal ganglia morphology	64601	VPS16	OMIM:619291
HP:0002134	Abnormal basal ganglia morphology	6515	SLC2A3	ORPHA:399
HP:0002134	Abnormal basal ganglia morphology	4287	ATXN3	ORPHA:276238
HP:0002134	Abnormal basal ganglia morphology	4287	ATXN3	ORPHA:276244
HP:0002134	Abnormal basal ganglia morphology	4287	ATXN3	ORPHA:276241
HP:0002134	Abnormal basal ganglia morphology	10535	RNASEH2A	ORPHA:51
HP:0002134	Abnormal basal ganglia morphology	84153	RNASEH2C	ORPHA:51
HP:0002134	Abnormal basal ganglia morphology	2643	GCH1	ORPHA:98808
HP:0002134	Abnormal basal ganglia morphology	4929	NR4A2	ORPHA:98808
HP:0002134	Abnormal basal ganglia morphology	3615	IMPDH2	ORPHA:98808
HP:0002134	Abnormal basal ganglia morphology	80208	SPG11	ORPHA:2822
HP:0002134	Abnormal basal ganglia morphology	6311	ATXN2	ORPHA:98756
HP:0002134	Abnormal basal ganglia morphology	4137	MAPT	OMIM:601104
HP:0002134	Abnormal basal ganglia morphology	3064	HTT	ORPHA:248111
HP:0007258	Severe demyelination of the white matter	54872	PIGG	ORPHA:488635
HP:0007258	Severe demyelination of the white matter	25974	MMACHC	ORPHA:79282
HP:0007258	Severe demyelination of the white matter	5631	PRPS1	ORPHA:1187
HP:0007258	Severe demyelination of the white matter	29920	PYCR2	ORPHA:481152
HP:0007258	Severe demyelination of the white matter	93587	TRMT10A	ORPHA:391408
HP:0007258	Severe demyelination of the white matter	84919	PPP1R15B	ORPHA:391408
HP:0007258	Severe demyelination of the white matter	79944	L2HGDH	OMIM:236792
HP:0006801	Hyperactive deep tendon reflexes	219285	SAMD9L	OMIM:159550
HP:0006801	Hyperactive deep tendon reflexes	10059	DNM1L	ORPHA:330050
HP:0006801	Hyperactive deep tendon reflexes	10159	ATP6AP2	ORPHA:363654
HP:0006801	Hyperactive deep tendon reflexes	56006	SMG9	OMIM:616920
HP:0006801	Hyperactive deep tendon reflexes	10273	STUB1	ORPHA:412057
HP:0006801	Hyperactive deep tendon reflexes	6389	SDHA	ORPHA:3208
HP:0006801	Hyperactive deep tendon reflexes	6390	SDHB	ORPHA:3208
HP:0006801	Hyperactive deep tendon reflexes	6392	SDHD	ORPHA:3208
HP:0006801	Hyperactive deep tendon reflexes	644096	SDHAF1	ORPHA:3208
HP:0006801	Hyperactive deep tendon reflexes	4361	MRE11	ORPHA:251347
HP:0006801	Hyperactive deep tendon reflexes	54463	RETREG1	OMIM:613115
HP:0006801	Hyperactive deep tendon reflexes	3748	KCNC3	ORPHA:98768
HP:0006801	Hyperactive deep tendon reflexes	1678	TIMM8A	ORPHA:52368
HP:0006801	Hyperactive deep tendon reflexes	5631	PRPS1	ORPHA:423479
HP:0006801	Hyperactive deep tendon reflexes	5621	PRNP	ORPHA:157941
HP:0006801	Hyperactive deep tendon reflexes	131669	UROC1	ORPHA:210128
HP:0006801	Hyperactive deep tendon reflexes	8492	PRSS12	OMIM:249500
HP:0006801	Hyperactive deep tendon reflexes	2581	GALC	OMIM:245200
HP:0006801	Hyperactive deep tendon reflexes	2581	GALC	ORPHA:206448
HP:0006801	Hyperactive deep tendon reflexes	4081	MAB21L1	OMIM:618479
HP:0006801	Hyperactive deep tendon reflexes	128989	TANGO2	OMIM:616878
HP:0006801	Hyperactive deep tendon reflexes	146227	BEAN1	ORPHA:217012
HP:0006801	Hyperactive deep tendon reflexes	6311	ATXN2	ORPHA:98756
HP:0006801	Hyperactive deep tendon reflexes	4204	MECP2	ORPHA:3077
HP:0006801	Hyperactive deep tendon reflexes	6513	SLC2A1	ORPHA:98811
HP:0006801	Hyperactive deep tendon reflexes	112476	PRRT2	ORPHA:98811
HP:0006801	Hyperactive deep tendon reflexes	2697	GJA1	OMIM:164200
HP:0006801	Hyperactive deep tendon reflexes	5376	PMP22	ORPHA:101081
HP:0006801	Hyperactive deep tendon reflexes	6310	ATXN1	ORPHA:98755
HP:0033383	Decreased compound muscle action potential amplitude	10049	DNAJB6	OMIM:603511
HP:0033383	Decreased compound muscle action potential amplitude	23064	SETX	OMIM:602433
HP:0033383	Decreased compound muscle action potential amplitude	7879	RAB7A	OMIM:600882
HP:0033383	Decreased compound muscle action potential amplitude	10280	SIGMAR1	OMIM:605726
HP:0033383	Decreased compound muscle action potential amplitude	11117	EMILIN1	OMIM:620080
HP:0033383	Decreased compound muscle action potential amplitude	7384	UQCRC1	OMIM:619279
HP:0033383	Decreased compound muscle action potential amplitude	6843	VAMP1	OMIM:618323
HP:0033383	Decreased compound muscle action potential amplitude	5375	PMP2	OMIM:618279
HP:0033383	Decreased compound muscle action potential amplitude	127833	SYT2	OMIM:616040
HP:0033383	Decreased compound muscle action potential amplitude	7317	UBA1	OMIM:301830
HP:0033383	Decreased compound muscle action potential amplitude	26580	BSCL2	OMIM:619112
HP:0033383	Decreased compound muscle action potential amplitude	6709	SPTAN1	OMIM:620528
HP:0033383	Decreased compound muscle action potential amplitude	57863	CADM3	OMIM:619519
HP:0033383	Decreased compound muscle action potential amplitude	3735	KARS1	OMIM:613641
HP:0033383	Decreased compound muscle action potential amplitude	93627	TBCK	OMIM:616900
HP:0033383	Decreased compound muscle action potential amplitude	57679	ALS2	OMIM:606353
HP:0033384	Elevated urinary collagen degradation products	2335	FN1	ORPHA:93315
HP:0033384	Elevated urinary collagen degradation products	1280	COL2A1	ORPHA:93315
HP:0033384	Elevated urinary collagen degradation products	4882	NPR2	OMIM:615923
HP:0033384	Elevated urinary collagen degradation products	4982	TNFRSF11B	OMIM:239000
HP:0033384	Elevated urinary collagen degradation products	5351	PLOD1	OMIM:225400
HP:0033386	Abnormal circulating collagen degradation product concentration	5176	SERPINF1	OMIM:613982
HP:0007260	Type II lissencephaly	3912	LAMB1	OMIM:615191
HP:0007260	Type II lissencephaly	3912	LAMB1	ORPHA:352682
HP:0007260	Type II lissencephaly	29925	GMPPB	ORPHA:370959
HP:0007260	Type II lissencephaly	79147	FKRP	ORPHA:370959
HP:0007260	Type II lissencephaly	79147	FKRP	OMIM:613153
HP:0007260	Type II lissencephaly	79147	FKRP	OMIM:236670
HP:0007260	Type II lissencephaly	29954	POMT2	ORPHA:370959
HP:0007260	Type II lissencephaly	29954	POMT2	OMIM:613150
HP:0007260	Type II lissencephaly	29954	POMT2	OMIM:236670
HP:0007260	Type II lissencephaly	84197	POMK	ORPHA:370959
HP:0007260	Type II lissencephaly	84197	POMK	OMIM:615249
HP:0007260	Type II lissencephaly	55624	POMGNT1	ORPHA:370959
HP:0007260	Type II lissencephaly	55624	POMGNT1	OMIM:253280
HP:0007260	Type II lissencephaly	10585	POMT1	ORPHA:370959
HP:0007260	Type II lissencephaly	10585	POMT1	OMIM:236670
HP:0007260	Type II lissencephaly	148789	B3GALNT2	OMIM:615181
HP:0007260	Type II lissencephaly	2218	FKTN	ORPHA:272
HP:0007260	Type II lissencephaly	2218	FKTN	OMIM:253800
HP:0007260	Type II lissencephaly	2218	FKTN	OMIM:236670
HP:0007260	Type II lissencephaly	10329	RXYLT1	OMIM:615041
HP:0007260	Type II lissencephaly	11041	B4GAT1	OMIM:615287
HP:0007260	Type II lissencephaly	9215	LARGE1	OMIM:613154
HP:0007260	Type II lissencephaly	9215	LARGE1	OMIM:236670
HP:0007260	Type II lissencephaly	160418	TMTC3	OMIM:617255
HP:0007260	Type II lissencephaly	729920	CRPPA	OMIM:614643
HP:0007260	Type II lissencephaly	84892	POMGNT2	OMIM:614830
HP:0007260	Type II lissencephaly	10381	TUBB3	ORPHA:300570
HP:0010849	EEG with spike-wave complexes (>3.5 Hz)	6323	SCN1A	OMIM:619317
HP:0010849	EEG with spike-wave complexes (>3.5 Hz)	3778	KCNMA1	OMIM:609446
HP:0010849	EEG with spike-wave complexes (>3.5 Hz)	3778	KCNMA1	ORPHA:79137
HP:0010849	EEG with spike-wave complexes (>3.5 Hz)	114327	EFHC1	OMIM:607631
HP:0010849	EEG with spike-wave complexes (>3.5 Hz)	2566	GABRG2	OMIM:607681
HP:0007262	Symmetric peripheral demyelination	2639	GCDH	OMIM:231670
HP:0007262	Symmetric peripheral demyelination	4001	LMNB1	OMIM:169500
HP:0007263	Spinocerebellar atrophy	10908	PNPLA6	OMIM:215470
HP:0007263	Spinocerebellar atrophy	5190	PEX6	ORPHA:95433
HP:0007263	Spinocerebellar atrophy	6310	ATXN1	OMIM:164400
HP:0012569	Delayed menarche	10273	STUB1	ORPHA:412057
HP:0012569	Delayed menarche	5192	PEX10	OMIM:614871
HP:0012569	Delayed menarche	4000	LMNA	ORPHA:740
HP:0012569	Delayed menarche	10269	ZMPSTE24	ORPHA:740
HP:0012569	Delayed menarche	10165	SLC25A13	ORPHA:247585
HP:0012569	Delayed menarche	7840	ALMS1	ORPHA:64
HP:0012569	Delayed menarche	10059	DNM1L	ORPHA:330050
HP:0012569	Delayed menarche	78995	HROB	OMIM:620897
HP:0012569	Delayed menarche	22800	RRAS2	ORPHA:648
HP:0012569	Delayed menarche	867	CBL	ORPHA:648
HP:0012569	Delayed menarche	8216	LZTR1	ORPHA:648
HP:0012569	Delayed menarche	6016	RIT1	ORPHA:648
HP:0012569	Delayed menarche	6237	RRAS	ORPHA:648
HP:0012569	Delayed menarche	5894	RAF1	ORPHA:648
HP:0012569	Delayed menarche	22808	MRAS	ORPHA:648
HP:0012569	Delayed menarche	3845	KRAS	ORPHA:648
HP:0012569	Delayed menarche	200734	SPRED2	ORPHA:648
HP:0012569	Delayed menarche	4893	NRAS	ORPHA:648
HP:0012569	Delayed menarche	6654	SOS1	ORPHA:648
HP:0012569	Delayed menarche	6655	SOS2	ORPHA:648
HP:0012569	Delayed menarche	5781	PTPN11	ORPHA:648
HP:0012569	Delayed menarche	5781	PTPN11	OMIM:151100
HP:0012569	Delayed menarche	5922	RASA2	ORPHA:648
HP:0012569	Delayed menarche	2488	FSHB	ORPHA:52901
HP:0012569	Delayed menarche	2690	GHR	OMIM:262500
HP:0007267	Chronic axonal neuropathy	10558	SPTLC1	OMIM:162400
HP:0007267	Chronic axonal neuropathy	84342	COG8	ORPHA:95428
HP:0007267	Chronic axonal neuropathy	84342	COG8	OMIM:611182
HP:0007267	Chronic axonal neuropathy	54332	GDAP1	ORPHA:99948
HP:0007267	Chronic axonal neuropathy	54332	GDAP1	ORPHA:101097
HP:0007267	Chronic axonal neuropathy	23064	SETX	OMIM:606002
HP:0007267	Chronic axonal neuropathy	3315	HSPB1	OMIM:606595
HP:0007267	Chronic axonal neuropathy	3766	KCNJ10	OMIM:612780
HP:0007267	Chronic axonal neuropathy	23345	SYNE1	ORPHA:88644
HP:0007269	Spinal muscular atrophy	427	ASAH1	OMIM:159950
HP:0007269	Spinal muscular atrophy	59341	TRPV4	OMIM:600175
HP:0007269	Spinal muscular atrophy	10280	SIGMAR1	OMIM:605726
HP:0007269	Spinal muscular atrophy	23299	BICD2	OMIM:615290
HP:0007269	Spinal muscular atrophy	11340	EXOSC8	OMIM:616081
HP:0007269	Spinal muscular atrophy	7084	TK2	ORPHA:254875
HP:0007269	Spinal muscular atrophy	1778	DYNC1H1	OMIM:158600
HP:0007269	Spinal muscular atrophy	3300	DNAJB2	OMIM:614881
HP:0007269	Spinal muscular atrophy	81545	FBXO38	OMIM:615575
HP:0007269	Spinal muscular atrophy	7317	UBA1	ORPHA:1145
HP:0007269	Spinal muscular atrophy	7317	UBA1	OMIM:301830
HP:0007269	Spinal muscular atrophy	6606	SMN1	OMIM:271150
HP:0007269	Spinal muscular atrophy	6606	SMN1	OMIM:253300
HP:0007269	Spinal muscular atrophy	6606	SMN1	OMIM:253400
HP:0007269	Spinal muscular atrophy	6606	SMN1	OMIM:253550
HP:0007269	Spinal muscular atrophy	51008	ASCC1	OMIM:616867
HP:0007269	Spinal muscular atrophy	9325	TRIP4	OMIM:616866
HP:0007269	Spinal muscular atrophy	6607	SMN2	OMIM:253400
HP:0007269	Spinal muscular atrophy	9217	VAPB	OMIM:182980
HP:0007269	Spinal muscular atrophy	538	ATP7A	OMIM:300489
HP:0007269	Spinal muscular atrophy	6905	TBCE	ORPHA:496756
HP:0007269	Spinal muscular atrophy	6905	TBCE	OMIM:617207
HP:0007269	Spinal muscular atrophy	51305	KCNK9	ORPHA:166108
HP:0007269	Spinal muscular atrophy	57449	PLEKHG5	OMIM:611067
HP:0007269	Spinal muscular atrophy	22880	MORC2	ORPHA:466768
HP:0007269	Spinal muscular atrophy	400916	CHCHD10	OMIM:615048
HP:0007269	Spinal muscular atrophy	7443	VRK1	OMIM:607596
HP:0007269	Spinal muscular atrophy	3508	IGHMBP2	OMIM:604320
HP:0033393	Irregularly shaped sperm tail	91057	CCDC34	OMIM:620084
HP:0033393	Irregularly shaped sperm tail	1769	DNAH8	OMIM:619095
HP:0033393	Irregularly shaped sperm tail	286464	CFAP47	OMIM:301059
HP:0033393	Irregularly shaped sperm tail	6756	SSX1	OMIM:301099
HP:0033393	Irregularly shaped sperm tail	25981	DNAH1	OMIM:617576
HP:0033393	Irregularly shaped sperm tail	144406	CFAP251	OMIM:618152
HP:0033393	Irregularly shaped sperm tail	401024	FSIP2	OMIM:618153
HP:0033393	Irregularly shaped sperm tail	89876	CFAP91	OMIM:619177
HP:0033393	Irregularly shaped sperm tail	26074	CFAP61	OMIM:620409
HP:0033393	Irregularly shaped sperm tail	881	CCIN	OMIM:620838
HP:0033393	Irregularly shaped sperm tail	65975	STK33	OMIM:620849
HP:0033393	Irregularly shaped sperm tail	80173	IFT74	OMIM:619585
HP:0033393	Irregularly shaped sperm tail	199223	TTC21A	OMIM:618429
HP:0033393	Irregularly shaped sperm tail	54014	BRWD1	OMIM:620438
HP:0033393	Irregularly shaped sperm tail	144132	DNHD1	OMIM:619712
HP:0033393	Irregularly shaped sperm tail	196385	DNAH10	OMIM:619515
HP:0033393	Irregularly shaped sperm tail	57728	WDR19	OMIM:619867
HP:0033399	Persistent fever	9997	SCO2	OMIM:604377
HP:0033399	Persistent fever	57169	ZNFX1	OMIM:619644
HP:0033399	Persistent fever	713	C1QB	OMIM:620321
HP:0007270	Atypical absence seizure	57526	PCDH19	ORPHA:101039
HP:0007270	Atypical absence seizure	57526	PCDH19	ORPHA:33069
HP:0007270	Atypical absence seizure	7337	UBE3A	ORPHA:98795
HP:0007270	Atypical absence seizure	3192	HNRNPU	OMIM:617391
HP:0007270	Atypical absence seizure	6324	SCN1B	OMIM:617350
HP:0007270	Atypical absence seizure	6324	SCN1B	ORPHA:33069
HP:0007270	Atypical absence seizure	1173	AP2M1	OMIM:618587
HP:0007270	Atypical absence seizure	2562	GABRB3	OMIM:617113
HP:0007270	Atypical absence seizure	2562	GABRB3	ORPHA:2382
HP:0007270	Atypical absence seizure	343450	KCNT2	OMIM:617771
HP:0007270	Atypical absence seizure	5530	PPP3CA	OMIM:617711
HP:0007270	Atypical absence seizure	1759	DNM1	OMIM:616346
HP:0007270	Atypical absence seizure	1759	DNM1	ORPHA:2382
HP:0007270	Atypical absence seizure	23334	SZT2	OMIM:615476
HP:0007270	Atypical absence seizure	785	CACNB4	OMIM:613855
HP:0007270	Atypical absence seizure	785	CACNB4	OMIM:607682
HP:0007270	Atypical absence seizure	81570	CLPB	OMIM:619835
HP:0007270	Atypical absence seizure	23732	FRRS1L	ORPHA:725
HP:0007270	Atypical absence seizure	2903	GRIN2A	ORPHA:725
HP:0007270	Atypical absence seizure	2903	GRIN2A	ORPHA:1945
HP:0007270	Atypical absence seizure	2903	GRIN2A	ORPHA:98818
HP:0007270	Atypical absence seizure	5048	PAFAH1B1	ORPHA:95232
HP:0007270	Atypical absence seizure	27286	SRPX2	ORPHA:1945
HP:0007270	Atypical absence seizure	2566	GABRG2	ORPHA:1945
HP:0007270	Atypical absence seizure	2566	GABRG2	ORPHA:33069
HP:0007270	Atypical absence seizure	2566	GABRG2	OMIM:618396
HP:0007270	Atypical absence seizure	6335	SCN9A	ORPHA:33069
HP:0007270	Atypical absence seizure	6326	SCN2A	ORPHA:33069
HP:0007270	Atypical absence seizure	2554	GABRA1	ORPHA:33069
HP:0007270	Atypical absence seizure	6323	SCN1A	ORPHA:33069
HP:0007270	Atypical absence seizure	6323	SCN1A	ORPHA:2382
HP:0007270	Atypical absence seizure	378884	NHLRC1	ORPHA:501
HP:0007270	Atypical absence seizure	7957	EPM2A	ORPHA:501
HP:0007270	Atypical absence seizure	9839	ZEB2	ORPHA:261537
HP:0007270	Atypical absence seizure	9839	ZEB2	ORPHA:261552
HP:0007270	Atypical absence seizure	3778	KCNMA1	OMIM:618596
HP:0007270	Atypical absence seizure	5602	MAPK10	ORPHA:2382
HP:0007270	Atypical absence seizure	773	CACNA1A	ORPHA:2382
HP:0007270	Atypical absence seizure	23316	CUX2	ORPHA:2382
HP:0007270	Atypical absence seizure	1106	CHD2	ORPHA:2382
HP:0007270	Atypical absence seizure	387119	CEP85L	OMIM:618873
HP:0007270	Atypical absence seizure	3745	KCNB1	OMIM:616056
HP:0007270	Atypical absence seizure	81603	TRIM8	OMIM:619428
HP:0007270	Atypical absence seizure	1974	EIF4A2	OMIM:620455
HP:0007270	Atypical absence seizure	140679	SLC32A1	OMIM:620774
HP:0007270	Atypical absence seizure	78987	CRELD1	OMIM:620771
HP:0007270	Atypical absence seizure	161725	OTUD7A	OMIM:620790
HP:0007271	Occipital myelomeningocele	56623	INPP5E	OMIM:213300
HP:0007272	Progressive psychomotor deterioration	154881	KCTD7	ORPHA:263516
HP:0007272	Progressive psychomotor deterioration	410	ARSA	ORPHA:309271
HP:0007272	Progressive psychomotor deterioration	410	ARSA	ORPHA:309263
HP:0007272	Progressive psychomotor deterioration	5660	PSAP	ORPHA:309271
HP:0007272	Progressive psychomotor deterioration	5660	PSAP	ORPHA:309263
HP:0007272	Progressive psychomotor deterioration	26580	BSCL2	ORPHA:363400
HP:0007272	Progressive psychomotor deterioration	2629	GBA1	ORPHA:77260
HP:0007272	Progressive psychomotor deterioration	23203	PMPCA	ORPHA:1170
HP:0007272	Progressive psychomotor deterioration	3074	HEXB	OMIM:268800
HP:0007272	Progressive psychomotor deterioration	1593	CYP27A1	ORPHA:909
HP:0007272	Progressive psychomotor deterioration	6389	SDHA	ORPHA:3208
HP:0007272	Progressive psychomotor deterioration	6390	SDHB	ORPHA:3208
HP:0007272	Progressive psychomotor deterioration	6392	SDHD	ORPHA:3208
HP:0007272	Progressive psychomotor deterioration	644096	SDHAF1	ORPHA:3208
HP:0007272	Progressive psychomotor deterioration	2720	GLB1	OMIM:230600
HP:0000609	Optic nerve hypoplasia	22827	PUF60	ORPHA:508498
HP:0000609	Optic nerve hypoplasia	22827	PUF60	ORPHA:508488
HP:0000609	Optic nerve hypoplasia	22827	PUF60	OMIM:615583
HP:0000609	Optic nerve hypoplasia	2077	ERF	OMIM:600775
HP:0000609	Optic nerve hypoplasia	10735	STAG2	OMIM:301043
HP:0000609	Optic nerve hypoplasia	3145	HMBS	OMIM:620704
HP:0000609	Optic nerve hypoplasia	220	ALDH1A3	OMIM:615113
HP:0000609	Optic nerve hypoplasia	8573	CASK	OMIM:300749
HP:0000609	Optic nerve hypoplasia	8573	CASK	ORPHA:163937
HP:0000609	Optic nerve hypoplasia	775	CACNA1C	OMIM:620029
HP:0000609	Optic nerve hypoplasia	84282	RNF135	ORPHA:137634
HP:0000609	Optic nerve hypoplasia	55605	KIF21A	ORPHA:45358
HP:0000609	Optic nerve hypoplasia	347733	TUBB2B	ORPHA:45358
HP:0000609	Optic nerve hypoplasia	7846	TUBA1A	ORPHA:45358
HP:0000609	Optic nerve hypoplasia	7846	TUBA1A	ORPHA:171680
HP:0000609	Optic nerve hypoplasia	401	PHOX2A	ORPHA:45358
HP:0000609	Optic nerve hypoplasia	10381	TUBB3	ORPHA:45358
HP:0000609	Optic nerve hypoplasia	10381	TUBB3	ORPHA:300570
HP:0000609	Optic nerve hypoplasia	84570	COL25A1	ORPHA:45358
HP:0000609	Optic nerve hypoplasia	6334	SCN8A	OMIM:614306
HP:0000609	Optic nerve hypoplasia	1788	DNMT3A	OMIM:615879
HP:0000609	Optic nerve hypoplasia	51807	TUBA8	ORPHA:250972
HP:0000609	Optic nerve hypoplasia	54820	NDE1	ORPHA:2177
HP:0000609	Optic nerve hypoplasia	8854	ALDH1A2	OMIM:620025
HP:0000609	Optic nerve hypoplasia	11267	SNF8	OMIM:620783
HP:0000609	Optic nerve hypoplasia	256297	PTF1A	OMIM:609069
HP:0000609	Optic nerve hypoplasia	256297	PTF1A	ORPHA:65288
HP:0000609	Optic nerve hypoplasia	55593	OTUD5	OMIM:301056
HP:0000609	Optic nerve hypoplasia	3190	HNRNPK	ORPHA:453504
HP:0000609	Optic nerve hypoplasia	3190	HNRNPK	ORPHA:352665
HP:0000609	Optic nerve hypoplasia	8443	GNPAT	OMIM:222765
HP:0000609	Optic nerve hypoplasia	8882	ZPR1	OMIM:619321
HP:0000609	Optic nerve hypoplasia	473	RERE	OMIM:616975
HP:0000609	Optic nerve hypoplasia	55215	FANCI	OMIM:609053
HP:0000609	Optic nerve hypoplasia	8085	KMT2D	ORPHA:2322
HP:0000609	Optic nerve hypoplasia	7403	KDM6A	ORPHA:2322
HP:0000609	Optic nerve hypoplasia	10730	YME1L1	OMIM:617302
HP:0000609	Optic nerve hypoplasia	25914	RTTN	OMIM:614833
HP:0000609	Optic nerve hypoplasia	25914	RTTN	ORPHA:468631
HP:0000609	Optic nerve hypoplasia	5080	PAX6	OMIM:165550
HP:0000609	Optic nerve hypoplasia	5080	PAX6	ORPHA:250923
HP:0000609	Optic nerve hypoplasia	5080	PAX6	OMIM:106210
HP:0000609	Optic nerve hypoplasia	29072	SETD2	OMIM:620157
HP:0000609	Optic nerve hypoplasia	29072	SETD2	OMIM:620155
HP:0000609	Optic nerve hypoplasia	29954	POMT2	OMIM:236670
HP:0000609	Optic nerve hypoplasia	29954	POMT2	ORPHA:370959
HP:0000609	Optic nerve hypoplasia	79147	FKRP	OMIM:236670
HP:0000609	Optic nerve hypoplasia	79147	FKRP	ORPHA:370959
HP:0000609	Optic nerve hypoplasia	2218	FKTN	OMIM:236670
HP:0000609	Optic nerve hypoplasia	10585	POMT1	OMIM:236670
HP:0000609	Optic nerve hypoplasia	10585	POMT1	ORPHA:370959
HP:0000609	Optic nerve hypoplasia	9215	LARGE1	OMIM:236670
HP:0000609	Optic nerve hypoplasia	23499	MACF1	ORPHA:572013
HP:0000609	Optic nerve hypoplasia	387119	CEP85L	ORPHA:572013
HP:0000609	Optic nerve hypoplasia	4784	NFIX	OMIM:602535
HP:0000609	Optic nerve hypoplasia	9968	MED12	ORPHA:93932
HP:0000609	Optic nerve hypoplasia	5015	OTX2	OMIM:610125
HP:0000609	Optic nerve hypoplasia	5015	OTX2	ORPHA:95494
HP:0000609	Optic nerve hypoplasia	5015	OTX2	ORPHA:3157
HP:0000609	Optic nerve hypoplasia	1063	CENPF	OMIM:243605
HP:0000609	Optic nerve hypoplasia	10157	AASS	OMIM:238700
HP:0000609	Optic nerve hypoplasia	9401	RECQL4	OMIM:218600
HP:0000609	Optic nerve hypoplasia	64121	RRAGC	OMIM:620609
HP:0000609	Optic nerve hypoplasia	80173	IFT74	OMIM:619582
HP:0000609	Optic nerve hypoplasia	25930	PTPN23	OMIM:618890
HP:0000609	Optic nerve hypoplasia	132158	GLYCTK	OMIM:220120
HP:0000609	Optic nerve hypoplasia	4990	SIX6	OMIM:206900
HP:0000609	Optic nerve hypoplasia	6657	SOX2	OMIM:206900
HP:0000609	Optic nerve hypoplasia	6657	SOX2	ORPHA:3157
HP:0000609	Optic nerve hypoplasia	1974	EIF4A2	OMIM:620455
HP:0000609	Optic nerve hypoplasia	26834	RNU4-2	OMIM:620851
HP:0000609	Optic nerve hypoplasia	4747	NEFL	ORPHA:101085
HP:0000609	Optic nerve hypoplasia	64864	RFX7	OMIM:620330
HP:0000609	Optic nerve hypoplasia	8820	HESX1	OMIM:182230
HP:0000609	Optic nerve hypoplasia	8820	HESX1	ORPHA:226307
HP:0000609	Optic nerve hypoplasia	8820	HESX1	ORPHA:95494
HP:0000609	Optic nerve hypoplasia	8820	HESX1	ORPHA:3157
HP:0000609	Optic nerve hypoplasia	50801	KCNK4	OMIM:618381
HP:0000609	Optic nerve hypoplasia	7025	NR2F1	ORPHA:401777
HP:0000609	Optic nerve hypoplasia	23126	POGZ	OMIM:616364
HP:0000609	Optic nerve hypoplasia	23259	DDHD2	OMIM:615033
HP:0000609	Optic nerve hypoplasia	2296	FOXC1	ORPHA:250923
HP:0000609	Optic nerve hypoplasia	54765	TRIM44	ORPHA:250923
HP:0000609	Optic nerve hypoplasia	7737	RNF113A	OMIM:300953
HP:0000609	Optic nerve hypoplasia	5626	PROP1	ORPHA:226307
HP:0000609	Optic nerve hypoplasia	5626	PROP1	ORPHA:95494
HP:0000609	Optic nerve hypoplasia	89884	LHX4	ORPHA:226307
HP:0000609	Optic nerve hypoplasia	89884	LHX4	ORPHA:95494
HP:0000609	Optic nerve hypoplasia	8022	LHX3	ORPHA:226307
HP:0000609	Optic nerve hypoplasia	5449	POU1F1	ORPHA:226307
HP:0000609	Optic nerve hypoplasia	5449	POU1F1	ORPHA:95494
HP:0000609	Optic nerve hypoplasia	2550	GABBR1	OMIM:620502
HP:0000609	Optic nerve hypoplasia	8405	SPOP	OMIM:618828
HP:0000609	Optic nerve hypoplasia	5293	PIK3CD	ORPHA:221139
HP:0000609	Optic nerve hypoplasia	90417	KNSTRN	ORPHA:221139
HP:0000609	Optic nerve hypoplasia	415	ARSL	ORPHA:79345
HP:0000609	Optic nerve hypoplasia	2736	GLI2	OMIM:610829
HP:0000609	Optic nerve hypoplasia	2736	GLI2	ORPHA:95494
HP:0000609	Optic nerve hypoplasia	55210	ATAD3A	ORPHA:496790
HP:0000609	Optic nerve hypoplasia	57459	GATAD2B	ORPHA:363686
HP:0000609	Optic nerve hypoplasia	29925	GMPPB	ORPHA:370959
HP:0000609	Optic nerve hypoplasia	84197	POMK	ORPHA:370959
HP:0000609	Optic nerve hypoplasia	55624	POMGNT1	ORPHA:370959
HP:0000609	Optic nerve hypoplasia	3170	FOXA2	ORPHA:95494
HP:0000609	Optic nerve hypoplasia	5605	MAP2K2	OMIM:615280
HP:0000609	Optic nerve hypoplasia	2222	FDFT1	OMIM:618156
HP:0000609	Optic nerve hypoplasia	3913	LAMB2	OMIM:614199
HP:0000609	Optic nerve hypoplasia	29123	ANKRD11	ORPHA:261250
HP:0000609	Optic nerve hypoplasia	2893	GRIA4	OMIM:617864
HP:0000609	Optic nerve hypoplasia	80210	ARMC9	OMIM:617622
HP:0000609	Optic nerve hypoplasia	5500	PPP1CB	OMIM:617506
HP:0000609	Optic nerve hypoplasia	57688	ZSWIM6	OMIM:603671
HP:0000609	Optic nerve hypoplasia	4208	MEF2C	ORPHA:228384
HP:0000609	Optic nerve hypoplasia	4081	MAB21L1	ORPHA:495875
HP:0000609	Optic nerve hypoplasia	440	ASNS	OMIM:615574
HP:0000609	Optic nerve hypoplasia	6651	SON	ORPHA:500150
HP:0000609	Optic nerve hypoplasia	51360	MBTPS2	ORPHA:85284
HP:0000609	Optic nerve hypoplasia	729920	CRPPA	OMIM:614643
HP:0000609	Optic nerve hypoplasia	9928	KIF14	OMIM:617914
HP:0000609	Optic nerve hypoplasia	148789	B3GALNT2	OMIM:615181
HP:0000609	Optic nerve hypoplasia	7543	ZFX	OMIM:301118
HP:0000609	Optic nerve hypoplasia	7545	ZIC1	OMIM:618736
HP:0000609	Optic nerve hypoplasia	5518	PPP2R1A	ORPHA:457284
HP:0000609	Optic nerve hypoplasia	2260	FGFR1	ORPHA:3157
HP:0000609	Optic nerve hypoplasia	128674	PROKR2	ORPHA:3157
HP:0000609	Optic nerve hypoplasia	6658	SOX3	ORPHA:3157
HP:0000609	Optic nerve hypoplasia	9915	ARNT2	ORPHA:3157
HP:0000609	Optic nerve hypoplasia	7490	WT1	OMIM:106210
HP:0000609	Optic nerve hypoplasia	55717	WDR11	ORPHA:95496
HP:0000609	Optic nerve hypoplasia	6091	ROBO1	ORPHA:95496
HP:0000609	Optic nerve hypoplasia	50937	CDON	ORPHA:95496
HP:0000609	Optic nerve hypoplasia	23432	GPR161	ORPHA:95496
HP:0000609	Optic nerve hypoplasia	9578	CDC42BPB	OMIM:619841
HP:0000609	Optic nerve hypoplasia	7473	WNT3	ORPHA:3301
HP:0000609	Optic nerve hypoplasia	340419	RSPO2	ORPHA:3301
HP:0000609	Optic nerve hypoplasia	9496	TBX4	ORPHA:3301
HP:0007274	Recurrent bacterial meningitis	714	C1QC	OMIM:620322
HP:0007274	Recurrent bacterial meningitis	3561	IL2RG	OMIM:300400
HP:0012570	Synovial sarcoma	6757	SSX2	OMIM:300813
HP:0012572	Ureter duplex	64321	SOX17	OMIM:613674
HP:0012573	Global proximal tubulopathy	4358	MPV17	OMIM:256810
HP:0012574	Mesangial hypercellularity	1314	COPA	OMIM:616414
HP:0012574	Mesangial hypercellularity	348	APOE	OMIM:611771
HP:0012574	Mesangial hypercellularity	55505	NOP10	OMIM:620425
HP:0012574	Mesangial hypercellularity	10253	SPRY2	OMIM:616818
HP:0012574	Mesangial hypercellularity	55243	KIRREL1	OMIM:619201
HP:0012574	Mesangial hypercellularity	8879	SGPL1	OMIM:617575
HP:0012574	Mesangial hypercellularity	3913	LAMB2	OMIM:614199
HP:0012574	Mesangial hypercellularity	81494	CFHR5	OMIM:614809
HP:0012575	Abnormal nephron morphology	56945	MRPS22	OMIM:611719
HP:0012575	Abnormal nephron morphology	5373	PMM2	ORPHA:79318
HP:0012575	Abnormal nephron morphology	4535	MT-ND1	ORPHA:255210
HP:0012575	Abnormal nephron morphology	4536	MT-ND2	ORPHA:255210
HP:0012575	Abnormal nephron morphology	4537	MT-ND3	ORPHA:255210
HP:0012575	Abnormal nephron morphology	4538	MT-ND4	ORPHA:255210
HP:0012575	Abnormal nephron morphology	4567	MT-TL1	ORPHA:255210
HP:0012575	Abnormal nephron morphology	4578	MT-TW	ORPHA:255210
HP:0012575	Abnormal nephron morphology	4577	MT-TV	ORPHA:255210
HP:0012575	Abnormal nephron morphology	4508	MT-ATP6	ORPHA:255210
HP:0012575	Abnormal nephron morphology	4540	MT-ND5	ORPHA:255210
HP:0012575	Abnormal nephron morphology	4541	MT-ND6	ORPHA:255210
HP:0012575	Abnormal nephron morphology	4566	MT-TK	ORPHA:255210
HP:0012575	Abnormal nephron morphology	9056	SLC7A7	ORPHA:470
HP:0012575	Abnormal nephron morphology	4868	NPHS1	ORPHA:839
HP:0012575	Abnormal nephron morphology	23729	SHPK	ORPHA:440713
HP:0012575	Abnormal nephron morphology	56606	SLC2A9	ORPHA:94088
HP:0012575	Abnormal nephron morphology	116085	SLC22A12	ORPHA:94088
HP:0012575	Abnormal nephron morphology	4952	OCRL	ORPHA:534
HP:0012575	Abnormal nephron morphology	2717	GLA	ORPHA:324
HP:0012575	Abnormal nephron morphology	23322	RPGRIP1L	OMIM:619113
HP:0012575	Abnormal nephron morphology	84662	GLIS2	OMIM:611498
HP:0012575	Abnormal nephron morphology	57122	NUP107	OMIM:618348
HP:0012575	Abnormal nephron morphology	57122	NUP107	OMIM:616730
HP:0012575	Abnormal nephron morphology	55746	NUP133	OMIM:618349
HP:0012575	Abnormal nephron morphology	3675	ITGA3	OMIM:614748
HP:0012575	Abnormal nephron morphology	26276	VPS33B	OMIM:208085
HP:0012575	Abnormal nephron morphology	4643	MYO1E	OMIM:614131
HP:0012575	Abnormal nephron morphology	65082	VPS33A	OMIM:617303
HP:0012575	Abnormal nephron morphology	54345	SOX18	OMIM:137940
HP:0012575	Abnormal nephron morphology	8518	ELP1	OMIM:223900
HP:0012575	Abnormal nephron morphology	27235	COQ2	OMIM:607426
HP:0012575	Abnormal nephron morphology	11277	TREX1	ORPHA:247691
HP:0012575	Abnormal nephron morphology	100147744	RNU7-1	OMIM:619487
HP:0012575	Abnormal nephron morphology	79934	COQ8B	OMIM:615573
HP:0012575	Abnormal nephron morphology	9722	NOS1AP	OMIM:619155
HP:0012575	Abnormal nephron morphology	5339	PLEC	ORPHA:158684
HP:0012575	Abnormal nephron morphology	3691	ITGB4	ORPHA:158684
HP:0012575	Abnormal nephron morphology	57728	WDR19	OMIM:614377
HP:0012575	Abnormal nephron morphology	7428	VHL	ORPHA:29072
HP:0012575	Abnormal nephron morphology	7428	VHL	ORPHA:276621
HP:0012575	Abnormal nephron morphology	1743	DLST	ORPHA:29072
HP:0012575	Abnormal nephron morphology	4191	MDH2	ORPHA:29072
HP:0012575	Abnormal nephron morphology	5979	RET	ORPHA:29072
HP:0012575	Abnormal nephron morphology	5979	RET	ORPHA:276621
HP:0012575	Abnormal nephron morphology	6389	SDHA	ORPHA:29072
HP:0012575	Abnormal nephron morphology	23095	KIF1B	ORPHA:29072
HP:0012575	Abnormal nephron morphology	2271	FH	ORPHA:29072
HP:0012575	Abnormal nephron morphology	8402	SLC25A11	ORPHA:29072
HP:0012575	Abnormal nephron morphology	54949	SDHAF2	ORPHA:29072
HP:0012575	Abnormal nephron morphology	55654	TMEM127	ORPHA:29072
HP:0012575	Abnormal nephron morphology	4763	NF1	ORPHA:29072
HP:0012575	Abnormal nephron morphology	6391	SDHC	ORPHA:29072
HP:0012575	Abnormal nephron morphology	6392	SDHD	ORPHA:29072
HP:0012575	Abnormal nephron morphology	6392	SDHD	ORPHA:276621
HP:0012575	Abnormal nephron morphology	6390	SDHB	ORPHA:29072
HP:0012575	Abnormal nephron morphology	6390	SDHB	ORPHA:276621
HP:0012575	Abnormal nephron morphology	4149	MAX	ORPHA:29072
HP:0012575	Abnormal nephron morphology	81603	TRIM8	OMIM:619428
HP:0012575	Abnormal nephron morphology	1788	DNMT3A	ORPHA:276621
HP:0012575	Abnormal nephron morphology	2034	EPAS1	ORPHA:276621
HP:0012575	Abnormal nephron morphology	2184	FAH	OMIM:276700
HP:0012575	Abnormal nephron morphology	55644	OSGEP	OMIM:617729
HP:0012575	Abnormal nephron morphology	7225	TRPC6	OMIM:603965
HP:0012575	Abnormal nephron morphology	7225	TRPC6	ORPHA:656
HP:0012575	Abnormal nephron morphology	4558	MT-TF	ORPHA:550
HP:0012575	Abnormal nephron morphology	4572	MT-TQ	ORPHA:550
HP:0012575	Abnormal nephron morphology	4512	MT-CO1	ORPHA:550
HP:0012575	Abnormal nephron morphology	4513	MT-CO2	ORPHA:550
HP:0012575	Abnormal nephron morphology	4514	MT-CO3	ORPHA:550
HP:0012575	Abnormal nephron morphology	4574	MT-TS1	ORPHA:550
HP:0012575	Abnormal nephron morphology	4575	MT-TS2	ORPHA:550
HP:0012575	Abnormal nephron morphology	4564	MT-TH	ORPHA:550
HP:0012575	Abnormal nephron morphology	112858	TP53RK	OMIM:617730
HP:0012575	Abnormal nephron morphology	8879	SGPL1	OMIM:617575
HP:0012575	Abnormal nephron morphology	8270	LAGE3	OMIM:301006
HP:0012575	Abnormal nephron morphology	5076	PAX2	OMIM:616002
HP:0012575	Abnormal nephron morphology	5076	PAX2	ORPHA:656
HP:0012575	Abnormal nephron morphology	284086	NEK8	OMIM:620903
HP:0012575	Abnormal nephron morphology	51002	TPRKB	OMIM:617731
HP:0012575	Abnormal nephron morphology	10785	WDR4	OMIM:618347
HP:0012575	Abnormal nephron morphology	55505	NOP10	OMIM:620425
HP:0012575	Abnormal nephron morphology	84942	WDR73	OMIM:251300
HP:0012575	Abnormal nephron morphology	81	ACTN4	OMIM:603278
HP:0012575	Abnormal nephron morphology	81	ACTN4	ORPHA:656
HP:0012575	Abnormal nephron morphology	23607	CD2AP	OMIM:607832
HP:0012575	Abnormal nephron morphology	23607	CD2AP	ORPHA:656
HP:0012575	Abnormal nephron morphology	55243	KIRREL1	OMIM:619201
HP:0012575	Abnormal nephron morphology	10651	MTX2	OMIM:619127
HP:0012575	Abnormal nephron morphology	23165	NUP205	OMIM:616893
HP:0012575	Abnormal nephron morphology	23165	NUP205	ORPHA:656
HP:0012575	Abnormal nephron morphology	9688	NUP93	OMIM:616892
HP:0012575	Abnormal nephron morphology	9688	NUP93	ORPHA:656
HP:0012575	Abnormal nephron morphology	50485	SMARCAL1	ORPHA:1830
HP:0012575	Abnormal nephron morphology	50485	SMARCAL1	OMIM:242900
HP:0012575	Abnormal nephron morphology	182	JAG1	OMIM:118450
HP:0012575	Abnormal nephron morphology	84520	GON7	OMIM:619603
HP:0012575	Abnormal nephron morphology	64423	INF2	ORPHA:656
HP:0012575	Abnormal nephron morphology	64423	INF2	OMIM:613237
HP:0012575	Abnormal nephron morphology	64423	INF2	OMIM:614455
HP:0012575	Abnormal nephron morphology	26130	GAPVD1	ORPHA:656
HP:0012575	Abnormal nephron morphology	51479	ANKFY1	ORPHA:656
HP:0012575	Abnormal nephron morphology	54443	ANLN	ORPHA:656
HP:0012575	Abnormal nephron morphology	54443	ANLN	OMIM:616032
HP:0012575	Abnormal nephron morphology	2013	EMP2	ORPHA:656
HP:0012575	Abnormal nephron morphology	79023	NUP37	ORPHA:656
HP:0012575	Abnormal nephron morphology	51196	PLCE1	ORPHA:656
HP:0012575	Abnormal nephron morphology	51196	PLCE1	OMIM:610725
HP:0012575	Abnormal nephron morphology	79902	NUP85	ORPHA:656
HP:0012575	Abnormal nephron morphology	79902	NUP85	OMIM:618176
HP:0012575	Abnormal nephron morphology	396	ARHGDIA	ORPHA:656
HP:0012575	Abnormal nephron morphology	23279	NUP160	ORPHA:656
HP:0012575	Abnormal nephron morphology	23279	NUP160	OMIM:618178
HP:0012575	Abnormal nephron morphology	9863	MAGI2	ORPHA:656
HP:0012575	Abnormal nephron morphology	8542	APOL1	ORPHA:656
HP:0012575	Abnormal nephron morphology	8542	APOL1	OMIM:612551
HP:0012575	Abnormal nephron morphology	54885	TBC1D8B	ORPHA:656
HP:0012575	Abnormal nephron morphology	54885	TBC1D8B	OMIM:301028
HP:0012575	Abnormal nephron morphology	7827	NPHS2	ORPHA:656
HP:0012575	Abnormal nephron morphology	7827	NPHS2	OMIM:600995
HP:0012575	Abnormal nephron morphology	83478	ARHGAP24	ORPHA:656
HP:0012575	Abnormal nephron morphology	23500	DAAM2	ORPHA:656
HP:0012575	Abnormal nephron morphology	23500	DAAM2	OMIM:619263
HP:0012575	Abnormal nephron morphology	1736	DKC1	OMIM:301108
HP:0012575	Abnormal nephron morphology	2538	G6PC1	OMIM:232200
HP:0012575	Abnormal nephron morphology	3911	LAMA5	OMIM:620049
HP:0012575	Abnormal nephron morphology	51004	COQ6	OMIM:614650
HP:0012575	Abnormal nephron morphology	79731	NARS2	OMIM:616239
HP:0012575	Abnormal nephron morphology	355	FAS	ORPHA:3261
HP:0012575	Abnormal nephron morphology	355	FAS	ORPHA:117
HP:0012575	Abnormal nephron morphology	356	FASLG	ORPHA:3261
HP:0012575	Abnormal nephron morphology	843	CASP10	ORPHA:3261
HP:0012575	Abnormal nephron morphology	144811	LACC1	ORPHA:85414
HP:0012575	Abnormal nephron morphology	4282	MIF	ORPHA:85414
HP:0012575	Abnormal nephron morphology	3569	IL6	ORPHA:85414
HP:0012575	Abnormal nephron morphology	720	C4A	OMIM:614380
HP:0012575	Abnormal nephron morphology	720	C4A	ORPHA:117
HP:0012575	Abnormal nephron morphology	8651	SOCS1	OMIM:619375
HP:0012575	Abnormal nephron morphology	975	CD81	OMIM:613496
HP:0012575	Abnormal nephron morphology	3426	CFI	OMIM:610984
HP:0012575	Abnormal nephron morphology	1285	COL4A3	OMIM:104200
HP:0012575	Abnormal nephron morphology	1493	CTLA4	ORPHA:900
HP:0012575	Abnormal nephron morphology	26191	PTPN22	ORPHA:900
HP:0012575	Abnormal nephron morphology	3115	HLA-DPB1	ORPHA:900
HP:0012575	Abnormal nephron morphology	5657	PRTN3	ORPHA:900
HP:0012575	Abnormal nephron morphology	3113	HLA-DPA1	ORPHA:900
HP:0012575	Abnormal nephron morphology	81494	CFHR5	OMIM:614809
HP:0012575	Abnormal nephron morphology	4010	LMX1B	OMIM:161200
HP:0012575	Abnormal nephron morphology	4312	MMP1	ORPHA:79408
HP:0012575	Abnormal nephron morphology	1294	COL7A1	ORPHA:79408
HP:0012575	Abnormal nephron morphology	4311	MME	ORPHA:69063
HP:0012575	Abnormal nephron morphology	3913	LAMB2	OMIM:614199
HP:0012575	Abnormal nephron morphology	6892	TAPBP	OMIM:620814
HP:0012575	Abnormal nephron morphology	149233	IL23R	ORPHA:117
HP:0012575	Abnormal nephron morphology	6775	STAT4	ORPHA:117
HP:0012575	Abnormal nephron morphology	3586	IL10	ORPHA:117
HP:0012575	Abnormal nephron morphology	4210	MEFV	ORPHA:117
HP:0012575	Abnormal nephron morphology	1230	CCR1	ORPHA:117
HP:0012575	Abnormal nephron morphology	3592	IL12A	ORPHA:117
HP:0012575	Abnormal nephron morphology	101928376	IL12A-AS1	ORPHA:117
HP:0012575	Abnormal nephron morphology	3106	HLA-B	ORPHA:117
HP:0012575	Abnormal nephron morphology	7099	TLR4	ORPHA:117
HP:0012575	Abnormal nephron morphology	3459	IFNGR1	ORPHA:117
HP:0012575	Abnormal nephron morphology	337867	UBAC2	ORPHA:117
HP:0012575	Abnormal nephron morphology	51752	ERAP1	ORPHA:117
HP:0012575	Abnormal nephron morphology	8302	KLRC4	ORPHA:117
HP:0012575	Abnormal nephron morphology	6557	SLC12A1	OMIM:601678
HP:0012575	Abnormal nephron morphology	3758	KCNJ1	OMIM:241200
HP:0012575	Abnormal nephron morphology	57169	ZNFX1	OMIM:619644
HP:0012575	Abnormal nephron morphology	1777	DNASE2	OMIM:619858
HP:0012575	Abnormal nephron morphology	712	C1QA	OMIM:613652
HP:0012575	Abnormal nephron morphology	5238	PGM3	ORPHA:443811
HP:0012575	Abnormal nephron morphology	5238	PGM3	OMIM:615816
HP:0012575	Abnormal nephron morphology	8526	DGKE	OMIM:615008
HP:0012575	Abnormal nephron morphology	718	C3	OMIM:613779
HP:0012575	Abnormal nephron morphology	10253	SPRY2	OMIM:616818
HP:0012575	Abnormal nephron morphology	2335	FN1	ORPHA:84090
HP:0012575	Abnormal nephron morphology	10677	AVIL	OMIM:618594
HP:0012575	Abnormal nephron morphology	100	ADA	OMIM:102700
HP:0012575	Abnormal nephron morphology	79693	YRDC	OMIM:619609
HP:0012575	Abnormal nephron morphology	6804	STX1A	ORPHA:904
HP:0012575	Abnormal nephron morphology	7461	CLIP2	ORPHA:904
HP:0012575	Abnormal nephron morphology	84277	DNAJC30	ORPHA:904
HP:0012575	Abnormal nephron morphology	8468	FKBP6	ORPHA:904
HP:0012575	Abnormal nephron morphology	5982	RFC2	ORPHA:904
HP:0012575	Abnormal nephron morphology	2969	GTF2I	ORPHA:904
HP:0012575	Abnormal nephron morphology	3984	LIMK1	ORPHA:904
HP:0012575	Abnormal nephron morphology	9569	GTF2IRD1	ORPHA:904
HP:0012575	Abnormal nephron morphology	155382	VPS37D	ORPHA:904
HP:0012575	Abnormal nephron morphology	155368	METTL27	ORPHA:904
HP:0012575	Abnormal nephron morphology	114049	BUD23	ORPHA:904
HP:0012575	Abnormal nephron morphology	7458	EIF4H	ORPHA:904
HP:0012575	Abnormal nephron morphology	84163	GTF2IRD2	ORPHA:904
HP:0012575	Abnormal nephron morphology	26608	TBL2	ORPHA:904
HP:0012575	Abnormal nephron morphology	653361	NCF1	ORPHA:904
HP:0012575	Abnormal nephron morphology	135886	TMEM270	ORPHA:904
HP:0012575	Abnormal nephron morphology	9031	BAZ1B	ORPHA:904
HP:0012575	Abnormal nephron morphology	2006	ELN	ORPHA:904
HP:0012575	Abnormal nephron morphology	1497	CTNS	ORPHA:411629
HP:0012575	Abnormal nephron morphology	7369	UMOD	OMIM:162000
HP:0012575	Abnormal nephron morphology	10463	SLC30A9	OMIM:617595
HP:0012575	Abnormal nephron morphology	11222	MRPL3	OMIM:614582
HP:0012575	Abnormal nephron morphology	50943	FOXP3	ORPHA:37042
HP:0012575	Abnormal nephron morphology	1801	DPH1	OMIM:616901
HP:0012575	Abnormal nephron morphology	1801	DPH1	ORPHA:459061
HP:0012575	Abnormal nephron morphology	2303	FOXC2	ORPHA:33001
HP:0012575	Abnormal nephron morphology	26146	TRAF3IP1	OMIM:616629
HP:0012575	Abnormal nephron morphology	7840	ALMS1	OMIM:203800
HP:0012575	Abnormal nephron morphology	4594	MMUT	OMIM:251000
HP:0012575	Abnormal nephron morphology	83480	PUS3	ORPHA:488627
HP:0012575	Abnormal nephron morphology	55764	IFT122	OMIM:218330
HP:0012575	Abnormal nephron morphology	51134	CEP83	OMIM:615862
HP:0012575	Abnormal nephron morphology	4582	MUC1	OMIM:174000
HP:0012575	Abnormal nephron morphology	1802	DPH2	ORPHA:459061
HP:0012575	Abnormal nephron morphology	1188	CLCNKB	ORPHA:358
HP:0012575	Abnormal nephron morphology	6559	SLC12A3	ORPHA:358
HP:0012575	Abnormal nephron morphology	617	BCS1L	OMIM:124000
HP:0012575	Abnormal nephron morphology	56244	BTNL2	ORPHA:797
HP:0012575	Abnormal nephron morphology	3123	HLA-DRB1	ORPHA:797
HP:0012575	Abnormal nephron morphology	1286	COL4A4	OMIM:203780
HP:0012575	Abnormal nephron morphology	2625	GATA3	OMIM:146255
HP:0012575	Abnormal nephron morphology	1287	COL4A5	OMIM:301050
HP:0012575	Abnormal nephron morphology	977	CD151	OMIM:609057
HP:0012575	Abnormal nephron morphology	8260	NAA10	OMIM:300855
HP:0012575	Abnormal nephron morphology	27130	INVS	OMIM:602088
HP:0012575	Abnormal nephron morphology	3075	CFH	OMIM:609814
HP:0012575	Abnormal nephron morphology	5087	PBX1	OMIM:617641
HP:0012575	Abnormal nephron morphology	6928	HNF1B	OMIM:137920
HP:0012575	Abnormal nephron morphology	261734	NPHP4	OMIM:606966
HP:0012575	Abnormal nephron morphology	54	ACP5	OMIM:607944
HP:0012575	Abnormal nephron morphology	7809	BSND	OMIM:602522
HP:0012575	Abnormal nephron morphology	4867	NPHP1	OMIM:266900
HP:0012575	Abnormal nephron morphology	4867	NPHP1	OMIM:256100
HP:0012575	Abnormal nephron morphology	5800	PTPRO	OMIM:614196
HP:0012575	Abnormal nephron morphology	5314	PKHD1	OMIM:263200
HP:0012575	Abnormal nephron morphology	137682	NDUFAF6	OMIM:618913
HP:0012575	Abnormal nephron morphology	2632	GBE1	OMIM:232500
HP:0012575	Abnormal nephron morphology	84168	ANTXR1	OMIM:230740
HP:0012575	Abnormal nephron morphology	1184	CLCN5	OMIM:310468
HP:0012575	Abnormal nephron morphology	27031	NPHP3	OMIM:604387
HP:0012575	Abnormal nephron morphology	2542	SLC37A4	ORPHA:79259
HP:0012575	Abnormal nephron morphology	63929	XPNPEP3	OMIM:613159
HP:0012575	Abnormal nephron morphology	91147	TMEM67	OMIM:613550
HP:0012575	Abnormal nephron morphology	1314	COPA	OMIM:616414
HP:0012575	Abnormal nephron morphology	1636	ACE	OMIM:267430
HP:0012575	Abnormal nephron morphology	183	AGT	OMIM:267430
HP:0012575	Abnormal nephron morphology	185	AGTR1	OMIM:267430
HP:0012575	Abnormal nephron morphology	5972	REN	OMIM:267430
HP:0012575	Abnormal nephron morphology	3909	LAMA3	ORPHA:79404
HP:0012575	Abnormal nephron morphology	3918	LAMC2	ORPHA:79404
HP:0012575	Abnormal nephron morphology	3914	LAMB3	ORPHA:79404
HP:0012575	Abnormal nephron morphology	1376	CPT2	ORPHA:228302
HP:0012575	Abnormal nephron morphology	1376	CPT2	ORPHA:228308
HP:0012575	Abnormal nephron morphology	5580	PRKCD	OMIM:615559
HP:0012575	Abnormal nephron morphology	3716	JAK1	OMIM:618999
HP:0012575	Abnormal nephron morphology	25959	KANK2	OMIM:617783
HP:0012575	Abnormal nephron morphology	7535	ZAP70	OMIM:617006
HP:0012575	Abnormal nephron morphology	10092	ARPC5	OMIM:620565
HP:0012575	Abnormal nephron morphology	51473	DCDC2	ORPHA:84081
HP:0012575	Abnormal nephron morphology	29927	SEC61A1	OMIM:617056
HP:0012575	Abnormal nephron morphology	286204	CRB2	OMIM:219730
HP:0012575	Abnormal nephron morphology	7289	TULP3	OMIM:619902
HP:0012575	Abnormal nephron morphology	254428	SLC41A1	OMIM:619468
HP:0012575	Abnormal nephron morphology	2212	FCGR2A	OMIM:152700
HP:0012575	Abnormal nephron morphology	2213	FCGR2B	OMIM:152700
HP:0012575	Abnormal nephron morphology	2213	FCGR2B	ORPHA:536
HP:0012575	Abnormal nephron morphology	1773	DNASE1	OMIM:152700
HP:0012575	Abnormal nephron morphology	1773	DNASE1	ORPHA:536
HP:0012575	Abnormal nephron morphology	2215	FCGR3B	ORPHA:536
HP:0012575	Abnormal nephron morphology	3684	ITGAM	ORPHA:536
HP:0012575	Abnormal nephron morphology	221895	JAZF1	ORPHA:536
HP:0012575	Abnormal nephron morphology	7292	TNFSF4	ORPHA:536
HP:0012575	Abnormal nephron morphology	640	BLK	ORPHA:536
HP:0012575	Abnormal nephron morphology	55024	BANK1	ORPHA:536
HP:0012575	Abnormal nephron morphology	3500	IGHG1	ORPHA:536
HP:0012575	Abnormal nephron morphology	3654	IRAK1	ORPHA:536
HP:0012575	Abnormal nephron morphology	1380	CR2	ORPHA:536
HP:0012575	Abnormal nephron morphology	5133	PDCD1	ORPHA:536
HP:0012575	Abnormal nephron morphology	2113	ETS1	ORPHA:536
HP:0012575	Abnormal nephron morphology	10318	TNIP1	ORPHA:536
HP:0012575	Abnormal nephron morphology	7332	UBE2L3	ORPHA:536
HP:0012575	Abnormal nephron morphology	79932	KIAA0319L	ORPHA:536
HP:0012575	Abnormal nephron morphology	4204	MECP2	ORPHA:536
HP:0012575	Abnormal nephron morphology	3663	IRF5	ORPHA:536
HP:0012575	Abnormal nephron morphology	721	C4B	ORPHA:536
HP:0012575	Abnormal nephron morphology	51284	TLR7	ORPHA:536
HP:0012575	Abnormal nephron morphology	6696	SPP1	ORPHA:536
HP:0012575	Abnormal nephron morphology	54899	PXK	ORPHA:536
HP:0012575	Abnormal nephron morphology	7128	TNFAIP3	ORPHA:536
HP:0012575	Abnormal nephron morphology	22909	FAN1	OMIM:614817
HP:0012575	Abnormal nephron morphology	93649	MYOCD	OMIM:618719
HP:0012575	Abnormal nephron morphology	9663	LPIN2	ORPHA:77297
HP:0012575	Abnormal nephron morphology	348	APOE	OMIM:611771
HP:0012575	Abnormal nephron morphology	25974	MMACHC	ORPHA:79282
HP:0012575	Abnormal nephron morphology	7454	WAS	ORPHA:906
HP:0012575	Abnormal nephron morphology	7456	WIPF1	ORPHA:906
HP:0012575	Abnormal nephron morphology	84823	LMNB2	ORPHA:79087
HP:0012575	Abnormal nephron morphology	1776	DNASE1L3	ORPHA:36412
HP:0012575	Abnormal nephron morphology	7490	WT1	ORPHA:347
HP:0012575	Abnormal nephron morphology	23630	KCNE5	ORPHA:86818
HP:0012575	Abnormal nephron morphology	2182	ACSL4	ORPHA:86818
HP:0012575	Abnormal nephron morphology	9949	AMMECR1	ORPHA:86818
HP:0012575	Abnormal nephron morphology	4552	MTRR	ORPHA:2169
HP:0012575	Abnormal nephron morphology	950	SCARB2	OMIM:254900
HP:0012575	Abnormal nephron morphology	4000	LMNA	ORPHA:2348
HP:0012576	Glomerular C3 deposition	81494	CFHR5	OMIM:614809
HP:0012577	Thin glomerular basement membrane	1285	COL4A3	OMIM:620536
HP:0012577	Thin glomerular basement membrane	1286	COL4A4	OMIM:141200
HP:0012577	Thin glomerular basement membrane	396	ARHGDIA	OMIM:615244
HP:0012578	Membranous nephropathy	50943	FOXP3	ORPHA:37042
HP:0012578	Membranous nephropathy	5580	PRKCD	OMIM:615559
HP:0012578	Membranous nephropathy	9056	SLC7A7	ORPHA:470
HP:0012578	Membranous nephropathy	3716	JAK1	OMIM:618999
HP:0012579	Minimal change glomerulonephritis	55243	KIRREL1	OMIM:619201
HP:0012579	Minimal change glomerulonephritis	8270	LAGE3	OMIM:301006
HP:0012579	Minimal change glomerulonephritis	25959	KANK2	OMIM:617783
HP:0012579	Minimal change glomerulonephritis	5800	PTPRO	OMIM:614196
HP:0012579	Minimal change glomerulonephritis	5800	PTPRO	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	50485	SMARCAL1	ORPHA:1830
HP:0012579	Minimal change glomerulonephritis	2013	EMP2	OMIM:615861
HP:0012579	Minimal change glomerulonephritis	2013	EMP2	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	7535	ZAP70	OMIM:617006
HP:0012579	Minimal change glomerulonephritis	57122	NUP107	OMIM:616730
HP:0012579	Minimal change glomerulonephritis	57122	NUP107	OMIM:618348
HP:0012579	Minimal change glomerulonephritis	57122	NUP107	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	9863	MAGI2	OMIM:617609
HP:0012579	Minimal change glomerulonephritis	9863	MAGI2	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	10092	ARPC5	OMIM:620565
HP:0012579	Minimal change glomerulonephritis	4010	LMX1B	OMIM:256020
HP:0012579	Minimal change glomerulonephritis	4868	NPHS1	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	23607	CD2AP	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	9688	NUP93	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	4643	MYO1E	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	64423	INF2	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	26130	GAPVD1	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	7490	WT1	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	51479	ANKFY1	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	54443	ANLN	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	286204	CRB2	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	23165	NUP205	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	79023	NUP37	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	51196	PLCE1	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	79902	NUP85	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	1285	COL4A3	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	396	ARHGDIA	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	79934	COQ8B	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	23279	NUP160	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	81	ACTN4	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	7225	TRPC6	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	8542	APOL1	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	54885	TBC1D8B	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	7827	NPHS2	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	83478	ARHGAP24	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	23500	DAAM2	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	5076	PAX2	ORPHA:656
HP:0012579	Minimal change glomerulonephritis	55746	NUP133	ORPHA:656
HP:0002366	Abnormal lower motor neuron morphology	23064	SETX	OMIM:602433
HP:0002366	Abnormal lower motor neuron morphology	427	ASAH1	ORPHA:2590
HP:0002366	Abnormal lower motor neuron morphology	6687	SPG7	ORPHA:35689
HP:0002366	Abnormal lower motor neuron morphology	83636	C19orf12	OMIM:614298
HP:0002366	Abnormal lower motor neuron morphology	57679	ALS2	OMIM:205100
HP:0002366	Abnormal lower motor neuron morphology	57679	ALS2	OMIM:607225
HP:0002366	Abnormal lower motor neuron morphology	9782	MATR3	OMIM:606070
HP:0002366	Abnormal lower motor neuron morphology	57449	PLEKHG5	OMIM:611067
HP:0002366	Abnormal lower motor neuron morphology	29110	TBK1	OMIM:616439
HP:0002366	Abnormal lower motor neuron morphology	29110	TBK1	ORPHA:275872
HP:0002366	Abnormal lower motor neuron morphology	7415	VCP	OMIM:613954
HP:0002366	Abnormal lower motor neuron morphology	7415	VCP	ORPHA:275872
HP:0002366	Abnormal lower motor neuron morphology	7415	VCP	ORPHA:100070
HP:0002366	Abnormal lower motor neuron morphology	8878	SQSTM1	OMIM:616437
HP:0002366	Abnormal lower motor neuron morphology	8878	SQSTM1	ORPHA:275872
HP:0002366	Abnormal lower motor neuron morphology	1639	DCTN1	OMIM:607641
HP:0002366	Abnormal lower motor neuron morphology	4287	ATXN3	ORPHA:276244
HP:0002366	Abnormal lower motor neuron morphology	54822	TRPM7	OMIM:105500
HP:0002366	Abnormal lower motor neuron morphology	2521	FUS	ORPHA:275872
HP:0002366	Abnormal lower motor neuron morphology	23435	TARDBP	ORPHA:275872
HP:0002366	Abnormal lower motor neuron morphology	400916	CHCHD10	ORPHA:275872
HP:0002366	Abnormal lower motor neuron morphology	80208	SPG11	OMIM:602099
HP:0002366	Abnormal lower motor neuron morphology	203228	C9orf72	OMIM:105550
HP:0002366	Abnormal lower motor neuron morphology	55187	VPS13D	ORPHA:95434
HP:0002366	Abnormal lower motor neuron morphology	27072	VPS41	ORPHA:95434
HP:0002366	Abnormal lower motor neuron morphology	25978	CHMP2B	ORPHA:100070
HP:0002366	Abnormal lower motor neuron morphology	5663	PSEN1	ORPHA:100070
HP:0002366	Abnormal lower motor neuron morphology	2896	GRN	ORPHA:100070
HP:0002366	Abnormal lower motor neuron morphology	54664	TMEM106B	ORPHA:100070
HP:0002366	Abnormal lower motor neuron morphology	4137	MAPT	ORPHA:100070
HP:0002366	Abnormal lower motor neuron morphology	54209	TREM2	ORPHA:100070
HP:0007277	Paucity of anterior horn motor neurons	2733	GLE1	OMIM:611890
HP:0007277	Paucity of anterior horn motor neurons	2733	GLE1	OMIM:253310
HP:0030117	Absent muscle fiber emerin	4000	LMNA	ORPHA:98855
HP:0030117	Absent muscle fiber emerin	4000	LMNA	ORPHA:98853
HP:0030117	Absent muscle fiber emerin	2273	FHL1	ORPHA:98863
HP:0030117	Absent muscle fiber emerin	2010	EMD	ORPHA:98863
HP:0030117	Absent muscle fiber emerin	79188	TMEM43	ORPHA:98853
HP:0030117	Absent muscle fiber emerin	23345	SYNE1	ORPHA:98853
HP:0030117	Absent muscle fiber emerin	23224	SYNE2	ORPHA:98853
HP:0030116	Abnormal muscle fiber emerin	4000	LMNA	ORPHA:98855
HP:0030116	Abnormal muscle fiber emerin	4000	LMNA	ORPHA:98853
HP:0030116	Abnormal muscle fiber emerin	2273	FHL1	ORPHA:98863
HP:0030116	Abnormal muscle fiber emerin	2010	EMD	ORPHA:98863
HP:0030116	Abnormal muscle fiber emerin	79188	TMEM43	ORPHA:98853
HP:0030116	Abnormal muscle fiber emerin	23345	SYNE1	ORPHA:98853
HP:0030116	Abnormal muscle fiber emerin	23224	SYNE2	ORPHA:98853
HP:0030114	Absent muscle fiber dysferlin	8291	DYSF	ORPHA:178400
HP:0030113	Abnormal muscle fiber dysferlin	8291	DYSF	ORPHA:178400
HP:0030112	Abnormal muscle fiber alpha dystroglycan	29925	GMPPB	ORPHA:370968
HP:0030112	Abnormal muscle fiber alpha dystroglycan	29925	GMPPB	ORPHA:370959
HP:0030112	Abnormal muscle fiber alpha dystroglycan	29925	GMPPB	OMIM:615350
HP:0030112	Abnormal muscle fiber alpha dystroglycan	29925	GMPPB	OMIM:615351
HP:0030112	Abnormal muscle fiber alpha dystroglycan	29925	GMPPB	OMIM:615352
HP:0030112	Abnormal muscle fiber alpha dystroglycan	79147	FKRP	ORPHA:370968
HP:0030112	Abnormal muscle fiber alpha dystroglycan	79147	FKRP	ORPHA:370959
HP:0030112	Abnormal muscle fiber alpha dystroglycan	29954	POMT2	ORPHA:370968
HP:0030112	Abnormal muscle fiber alpha dystroglycan	29954	POMT2	ORPHA:370959
HP:0030112	Abnormal muscle fiber alpha dystroglycan	9215	LARGE1	ORPHA:370968
HP:0030112	Abnormal muscle fiber alpha dystroglycan	10585	POMT1	ORPHA:370968
HP:0030112	Abnormal muscle fiber alpha dystroglycan	10585	POMT1	ORPHA:370959
HP:0030112	Abnormal muscle fiber alpha dystroglycan	10585	POMT1	OMIM:609308
HP:0030112	Abnormal muscle fiber alpha dystroglycan	84197	POMK	ORPHA:370959
HP:0030112	Abnormal muscle fiber alpha dystroglycan	55624	POMGNT1	ORPHA:370959
HP:0030112	Abnormal muscle fiber alpha dystroglycan	2218	FKTN	ORPHA:272
HP:0030112	Abnormal muscle fiber alpha dystroglycan	2218	FKTN	OMIM:611588
HP:0030112	Abnormal muscle fiber alpha dystroglycan	729920	CRPPA	OMIM:616052
HP:0030112	Abnormal muscle fiber alpha dystroglycan	729920	CRPPA	ORPHA:352479
HP:0030112	Abnormal muscle fiber alpha dystroglycan	9570	GOSR2	OMIM:620166
HP:0030112	Abnormal muscle fiber alpha dystroglycan	1605	DAG1	ORPHA:370997
HP:0030112	Abnormal muscle fiber alpha dystroglycan	1605	DAG1	OMIM:613818
HP:0030112	Abnormal muscle fiber alpha dystroglycan	3156	HMGCR	OMIM:620375
HP:0011096	Peripheral demyelination	4535	MT-ND1	ORPHA:255210
HP:0011096	Peripheral demyelination	4536	MT-ND2	ORPHA:255210
HP:0011096	Peripheral demyelination	4537	MT-ND3	ORPHA:255210
HP:0011096	Peripheral demyelination	4538	MT-ND4	ORPHA:255210
HP:0011096	Peripheral demyelination	4567	MT-TL1	ORPHA:255210
HP:0011096	Peripheral demyelination	4578	MT-TW	ORPHA:255210
HP:0011096	Peripheral demyelination	4577	MT-TV	ORPHA:255210
HP:0011096	Peripheral demyelination	4508	MT-ATP6	ORPHA:255210
HP:0011096	Peripheral demyelination	4540	MT-ND5	ORPHA:255210
HP:0011096	Peripheral demyelination	4541	MT-ND6	ORPHA:255210
HP:0011096	Peripheral demyelination	4566	MT-TK	ORPHA:255210
HP:0011096	Peripheral demyelination	10397	NDRG1	OMIM:601455
HP:0011096	Peripheral demyelination	4747	NEFL	OMIM:607734
HP:0011096	Peripheral demyelination	5631	PRPS1	OMIM:311070
HP:0011096	Peripheral demyelination	81846	SBF2	OMIM:604563
HP:0011096	Peripheral demyelination	1785	DNM2	OMIM:606482
HP:0011096	Peripheral demyelination	9516	LITAF	OMIM:601098
HP:0011096	Peripheral demyelination	8729	GBF1	OMIM:606483
HP:0011096	Peripheral demyelination	2639	GCDH	OMIM:231670
HP:0011096	Peripheral demyelination	79628	SH3TC2	OMIM:601596
HP:0011096	Peripheral demyelination	4001	LMNB1	OMIM:169500
HP:0011096	Peripheral demyelination	10749	KIF1C	ORPHA:397946
HP:0011096	Peripheral demyelination	10128	LRPPRC	OMIM:220111
HP:0011096	Peripheral demyelination	4547	MTTP	OMIM:200100
HP:0011096	Peripheral demyelination	4359	MPZ	OMIM:118200
HP:0011096	Peripheral demyelination	4359	MPZ	OMIM:607736
HP:0011096	Peripheral demyelination	4359	MPZ	OMIM:145900
HP:0011096	Peripheral demyelination	6834	SURF1	OMIM:616684
HP:0011096	Peripheral demyelination	7343	UBTF	OMIM:617672
HP:0011096	Peripheral demyelination	6711	SPTBN1	OMIM:619475
HP:0011096	Peripheral demyelination	27247	NFU1	OMIM:620938
HP:0011096	Peripheral demyelination	4337	MOCS1	OMIM:252150
HP:0011096	Peripheral demyelination	19	ABCA1	OMIM:205400
HP:0011096	Peripheral demyelination	25974	MMACHC	ORPHA:79282
HP:0011096	Peripheral demyelination	4143	MAT1A	OMIM:250850
HP:0011096	Peripheral demyelination	9639	ARHGEF10	OMIM:608236
HP:0011096	Peripheral demyelination	54332	GDAP1	ORPHA:101097
HP:0011096	Peripheral demyelination	54332	GDAP1	ORPHA:99944
HP:0011096	Peripheral demyelination	54332	GDAP1	OMIM:608340
HP:0011096	Peripheral demyelination	3098	HK1	ORPHA:99953
HP:0011096	Peripheral demyelination	285362	SUMF1	OMIM:272200
HP:0011096	Peripheral demyelination	5660	PSAP	OMIM:249900
HP:0011096	Peripheral demyelination	9150	CTDP1	OMIM:604168
HP:0011096	Peripheral demyelination	5354	PLP1	ORPHA:280234
HP:0011096	Peripheral demyelination	59345	GNB4	OMIM:615185
HP:0011096	Peripheral demyelination	5375	PMP2	OMIM:618279
HP:0011096	Peripheral demyelination	7305	TYROBP	OMIM:221770
HP:0011096	Peripheral demyelination	2581	GALC	OMIM:245200
HP:0011096	Peripheral demyelination	2581	GALC	ORPHA:206448
HP:0011096	Peripheral demyelination	10229	COQ7	OMIM:616733
HP:0011096	Peripheral demyelination	57716	PRX	OMIM:614895
HP:0011096	Peripheral demyelination	57716	PRX	OMIM:145900
HP:0011096	Peripheral demyelination	79152	FA2H	ORPHA:171629
HP:0011096	Peripheral demyelination	9409	PEX16	OMIM:614877
HP:0011096	Peripheral demyelination	4338	MOCS2	OMIM:252160
HP:0011096	Peripheral demyelination	5376	PMP22	OMIM:145900
HP:0011096	Peripheral demyelination	1959	EGR2	OMIM:145900
HP:0011096	Peripheral demyelination	6663	SOX10	OMIM:609136
HP:0011096	Peripheral demyelination	410	ARSA	OMIM:250100
HP:0011096	Peripheral demyelination	28982	FLVCR1	OMIM:609033
HP:0012582	Bilateral renal dysplasia	374879	ZNF699	OMIM:619488
HP:0012582	Bilateral renal dysplasia	6651	SON	ORPHA:500150
HP:0012583	Unilateral renal hypoplasia	5361	PLXNA1	OMIM:619955
HP:0012583	Unilateral renal hypoplasia	26005	C2CD3	OMIM:615948
HP:0012583	Unilateral renal hypoplasia	8367	H4C5	OMIM:619950
HP:0012583	Unilateral renal hypoplasia	4174	MCM5	OMIM:617564
HP:0012583	Unilateral renal hypoplasia	3265	HRAS	ORPHA:2874
HP:0012584	Bilateral renal hypoplasia	22827	PUF60	ORPHA:508488
HP:0012584	Bilateral renal hypoplasia	1063	CENPF	OMIM:243605
HP:0012584	Bilateral renal hypoplasia	374879	ZNF699	OMIM:619488
HP:0012584	Bilateral renal hypoplasia	8085	KMT2D	OMIM:147920
HP:0012584	Bilateral renal hypoplasia	7403	KDM6A	OMIM:147920
HP:0012584	Bilateral renal hypoplasia	7468	NSD2	OMIM:619695
HP:0012585	Renal atrophy	4582	MUC1	OMIM:174000
HP:0012585	Renal atrophy	57178	ZMIZ1	OMIM:618659
HP:0012585	Renal atrophy	51473	DCDC2	ORPHA:84081
HP:0012585	Renal atrophy	91147	TMEM67	ORPHA:84081
HP:0012585	Renal atrophy	5081	PAX7	OMIM:618578
HP:0012585	Renal atrophy	29880	ALG5	OMIM:620056
HP:0012585	Renal atrophy	9935	MAFB	OMIM:166300
HP:0012586	Bilateral renal atrophy	9935	MAFB	OMIM:166300
HP:0012587	Macroscopic hematuria	2811	GP1BA	ORPHA:274
HP:0012587	Macroscopic hematuria	2812	GP1BB	ORPHA:274
HP:0012587	Macroscopic hematuria	2815	GP9	ORPHA:274
HP:0012587	Macroscopic hematuria	1291	COL6A1	OMIM:158810
HP:0012587	Macroscopic hematuria	975	CD81	OMIM:613496
HP:0012587	Macroscopic hematuria	2157	F8	ORPHA:169802
HP:0012587	Macroscopic hematuria	3674	ITGA2B	ORPHA:849
HP:0012587	Macroscopic hematuria	3690	ITGB3	ORPHA:849
HP:0012587	Macroscopic hematuria	10686	CLDN16	OMIM:248250
HP:0012587	Macroscopic hematuria	3251	HPRT1	ORPHA:79233
HP:0012587	Macroscopic hematuria	5978	REST	ORPHA:654
HP:0012587	Macroscopic hematuria	129563	DIS3L2	ORPHA:654
HP:0012587	Macroscopic hematuria	675	BRCA2	ORPHA:654
HP:0012587	Macroscopic hematuria	9319	TRIP13	ORPHA:654
HP:0012587	Macroscopic hematuria	7490	WT1	ORPHA:654
HP:0012587	Macroscopic hematuria	10155	TRIM28	ORPHA:654
HP:0012587	Macroscopic hematuria	11281	POU6F2	ORPHA:654
HP:0012587	Macroscopic hematuria	2719	GPC3	ORPHA:654
HP:0012587	Macroscopic hematuria	283120	H19	ORPHA:654
HP:0012587	Macroscopic hematuria	353	APRT	ORPHA:976
HP:0012588	Steroid-resistant nephrotic syndrome	55243	KIRREL1	OMIM:619201
HP:0012588	Steroid-resistant nephrotic syndrome	23279	NUP160	OMIM:618178
HP:0012588	Steroid-resistant nephrotic syndrome	79934	COQ8B	OMIM:615573
HP:0012588	Steroid-resistant nephrotic syndrome	23500	DAAM2	OMIM:619263
HP:0012588	Steroid-resistant nephrotic syndrome	8879	SGPL1	OMIM:617575
HP:0012588	Steroid-resistant nephrotic syndrome	23165	NUP205	OMIM:616893
HP:0012588	Steroid-resistant nephrotic syndrome	54885	TBC1D8B	OMIM:301028
HP:0012588	Steroid-resistant nephrotic syndrome	51004	COQ6	OMIM:614650
HP:0012588	Steroid-resistant nephrotic syndrome	9688	NUP93	OMIM:616892
HP:0012588	Steroid-resistant nephrotic syndrome	79902	NUP85	OMIM:618176
HP:0012588	Steroid-resistant nephrotic syndrome	10677	AVIL	OMIM:618594
HP:0012588	Steroid-resistant nephrotic syndrome	286204	CRB2	OMIM:616220
HP:0012588	Steroid-resistant nephrotic syndrome	55746	NUP133	OMIM:618177
HP:0012588	Steroid-resistant nephrotic syndrome	2013	EMP2	OMIM:615861
HP:0012588	Steroid-resistant nephrotic syndrome	51002	TPRKB	OMIM:617731
HP:0012588	Steroid-resistant nephrotic syndrome	3911	LAMA5	OMIM:620049
HP:0012588	Steroid-resistant nephrotic syndrome	9863	MAGI2	OMIM:617609
HP:0007285	Facial palsy secondary to cranial hyperostosis	50964	SOST	OMIM:269500
HP:0007286	Horizontal jerk nystagmus	6712	SPTBN2	OMIM:600224
HP:0007286	Horizontal jerk nystagmus	4361	MRE11	OMIM:604391
HP:0007286	Horizontal jerk nystagmus	221927	BRAT1	OMIM:618056
HP:0001271	Polyneuropathy	2074	ERCC6	OMIM:133540
HP:0001271	Polyneuropathy	55768	NGLY1	OMIM:615273
HP:0001271	Polyneuropathy	7384	UQCRC1	OMIM:619279
HP:0001271	Polyneuropathy	9420	CYP7B1	ORPHA:100986
HP:0001271	Polyneuropathy	5193	PEX12	OMIM:266510
HP:0001271	Polyneuropathy	23345	SYNE1	ORPHA:88644
HP:0001271	Polyneuropathy	6711	SPTBN1	OMIM:619475
HP:0001271	Polyneuropathy	5702	PSMC3	OMIM:619354
HP:0001271	Polyneuropathy	2517	FUCA1	OMIM:230000
HP:0001271	Polyneuropathy	50846	DHH	OMIM:607080
HP:0001271	Polyneuropathy	50846	DHH	ORPHA:168563
HP:0001271	Polyneuropathy	22934	RPIA	OMIM:608611
HP:0001271	Polyneuropathy	5660	PSAP	OMIM:249900
HP:0001271	Polyneuropathy	57465	TBC1D24	OMIM:220500
HP:0001271	Polyneuropathy	7276	TTR	ORPHA:85447
HP:0001271	Polyneuropathy	7276	TTR	ORPHA:85451
HP:0001271	Polyneuropathy	7276	TTR	OMIM:105210
HP:0001271	Polyneuropathy	2934	GSN	ORPHA:85448
HP:0001271	Polyneuropathy	2934	GSN	OMIM:105120
HP:0001271	Polyneuropathy	25814	ATXN10	OMIM:603516
HP:0001271	Polyneuropathy	10229	COQ7	OMIM:616733
HP:0001271	Polyneuropathy	1910	EDNRB	OMIM:277580
HP:0001271	Polyneuropathy	2911	GRM1	OMIM:614831
HP:0001271	Polyneuropathy	2911	GRM1	ORPHA:324262
HP:0001271	Polyneuropathy	4976	OPA1	OMIM:125250
HP:0001271	Polyneuropathy	540	ATP7B	OMIM:277900
HP:0001271	Polyneuropathy	5191	PEX7	OMIM:614879
HP:0001271	Polyneuropathy	1161	ERCC8	OMIM:216400
HP:0001271	Polyneuropathy	9516	LITAF	OMIM:601098
HP:0001271	Polyneuropathy	2729	GCLC	OMIM:230450
HP:0001271	Polyneuropathy	23204	ARL6IP1	ORPHA:401780
HP:0001271	Polyneuropathy	11155	LDB3	OMIM:609452
HP:0001271	Polyneuropathy	9342	SNAP29	OMIM:609528
HP:0001271	Polyneuropathy	210	ALAD	ORPHA:100924
HP:0001271	Polyneuropathy	5631	PRPS1	OMIM:311070
HP:0001271	Polyneuropathy	966	CD59	OMIM:612300
HP:0001271	Polyneuropathy	4358	MPV17	OMIM:256810
HP:0001271	Polyneuropathy	162417	NAGS	ORPHA:927
HP:0001271	Polyneuropathy	55157	DARS2	ORPHA:137898
HP:0001271	Polyneuropathy	5173	PDYN	OMIM:610245
HP:0001271	Polyneuropathy	8799	PEX11B	OMIM:614920
HP:0001271	Polyneuropathy	3117	HLA-DQA1	OMIM:212750
HP:0001271	Polyneuropathy	3119	HLA-DQB1	OMIM:212750
HP:0001271	Polyneuropathy	91574	MTRFR	OMIM:613559
HP:0001271	Polyneuropathy	10295	BCKDK	OMIM:614923
HP:0001271	Polyneuropathy	9499	MYOT	OMIM:609200
HP:0001271	Polyneuropathy	1716	DGUOK	OMIM:251880
HP:0001271	Polyneuropathy	215	ABCD1	OMIM:300100
HP:0001271	Polyneuropathy	54968	TMEM70	OMIM:614052
HP:0001271	Polyneuropathy	4615	MYD88	OMIM:153600
HP:0001271	Polyneuropathy	23312	DMXL2	OMIM:616113
HP:0001271	Polyneuropathy	51117	COQ4	OMIM:616276
HP:0001271	Polyneuropathy	9131	AIFM1	OMIM:300816
HP:0001271	Polyneuropathy	10801	SEPTIN9	ORPHA:2901
HP:0001271	Polyneuropathy	567	B2M	OMIM:620659
HP:0001271	Polyneuropathy	84668	HYCC1	OMIM:610532
HP:0001271	Polyneuropathy	4771	NF2	ORPHA:637
HP:0001271	Polyneuropathy	23064	SETX	OMIM:606002
HP:0001271	Polyneuropathy	4535	MT-ND1	OMIM:535000
HP:0001271	Polyneuropathy	4536	MT-ND2	OMIM:535000
HP:0001271	Polyneuropathy	4538	MT-ND4	OMIM:535000
HP:0001271	Polyneuropathy	4514	MT-CO3	OMIM:535000
HP:0001271	Polyneuropathy	4519	MT-CYB	OMIM:535000
HP:0001271	Polyneuropathy	4508	MT-ATP6	OMIM:535000
HP:0001271	Polyneuropathy	4540	MT-ND5	OMIM:535000
HP:0001271	Polyneuropathy	4541	MT-ND6	OMIM:535000
HP:0001271	Polyneuropathy	4539	MT-ND4L	OMIM:535000
HP:0001271	Polyneuropathy	4763	NF1	ORPHA:97685
HP:0001271	Polyneuropathy	5373	PMM2	OMIM:212065
HP:0001271	Polyneuropathy	9990	SLC12A6	OMIM:218000
HP:0030126	Abnormal endometrium morphology	4072	EPCAM	ORPHA:144
HP:0030126	Abnormal endometrium morphology	4072	EPCAM	OMIM:613244
HP:0030126	Abnormal endometrium morphology	4292	MLH1	ORPHA:144
HP:0030126	Abnormal endometrium morphology	5395	PMS2	ORPHA:144
HP:0030126	Abnormal endometrium morphology	5395	PMS2	OMIM:614337
HP:0030126	Abnormal endometrium morphology	7048	TGFBR2	ORPHA:144
HP:0030126	Abnormal endometrium morphology	3845	KRAS	ORPHA:144
HP:0030126	Abnormal endometrium morphology	5290	PIK3CA	ORPHA:144
HP:0030126	Abnormal endometrium morphology	5290	PIK3CA	ORPHA:201
HP:0030126	Abnormal endometrium morphology	2956	MSH6	ORPHA:144
HP:0030126	Abnormal endometrium morphology	2956	MSH6	OMIM:614350
HP:0030126	Abnormal endometrium morphology	2956	MSH6	OMIM:608089
HP:0030126	Abnormal endometrium morphology	5378	PMS1	ORPHA:144
HP:0030126	Abnormal endometrium morphology	4436	MSH2	ORPHA:144
HP:0030126	Abnormal endometrium morphology	10483	SEC23B	ORPHA:201
HP:0030126	Abnormal endometrium morphology	5728	PTEN	ORPHA:201
HP:0030126	Abnormal endometrium morphology	6390	SDHB	ORPHA:201
HP:0030126	Abnormal endometrium morphology	6392	SDHD	ORPHA:201
HP:0030126	Abnormal endometrium morphology	6391	SDHC	ORPHA:201
HP:0030126	Abnormal endometrium morphology	207	AKT1	ORPHA:201
HP:0030126	Abnormal endometrium morphology	205717	USF3	ORPHA:201
HP:0030126	Abnormal endometrium morphology	100144748	KLLN	ORPHA:201
HP:0030126	Abnormal endometrium morphology	388662	SLC6A17	ORPHA:457212
HP:0030126	Abnormal endometrium morphology	5424	POLD1	OMIM:612591
HP:0030126	Abnormal endometrium morphology	5424	POLD1	ORPHA:447877
HP:0030126	Abnormal endometrium morphology	26585	GREM1	ORPHA:157794
HP:0030126	Abnormal endometrium morphology	657	BMPR1A	ORPHA:157794
HP:0030126	Abnormal endometrium morphology	4913	NTHL1	ORPHA:454840
HP:0030126	Abnormal endometrium morphology	4913	NTHL1	OMIM:616415
HP:0030126	Abnormal endometrium morphology	5426	POLE	ORPHA:447877
HP:0030126	Abnormal endometrium morphology	999	CDH1	OMIM:608089
HP:0030126	Abnormal endometrium morphology	4437	MSH3	OMIM:608089
HP:0030126	Abnormal endometrium morphology	27030	MLH3	OMIM:608089
HP:0030126	Abnormal endometrium morphology	79228	THOC6	ORPHA:363444
HP:0030126	Abnormal endometrium morphology	79228	THOC6	OMIM:613680
HP:0030126	Abnormal endometrium morphology	79803	HPS6	OMIM:614075
HP:0004336	Myelin outfoldings	5376	PMP22	OMIM:118220
HP:0004336	Myelin outfoldings	4747	NEFL	OMIM:607734
HP:0004336	Myelin outfoldings	6305	SBF1	OMIM:615284
HP:0004336	Myelin outfoldings	81846	SBF2	ORPHA:99956
HP:0004336	Myelin outfoldings	4359	MPZ	OMIM:118200
HP:0004336	Myelin outfoldings	6663	SOX10	OMIM:609136
HP:0004336	Myelin outfoldings	8898	MTMR2	OMIM:601382
HP:0007291	Posterior fossa cyst	9897	WASHC5	OMIM:220210
HP:0007291	Posterior fossa cyst	2073	ERCC5	OMIM:616570
HP:0007291	Posterior fossa cyst	30813	VSX1	OMIM:614195
HP:0007291	Posterior fossa cyst	23007	PLCH1	OMIM:619895
HP:0007291	Posterior fossa cyst	392255	GDF6	OMIM:118100
HP:0007291	Posterior fossa cyst	5159	PDGFRB	OMIM:601812
HP:0007291	Posterior fossa cyst	18	ABAT	OMIM:613163
HP:0007291	Posterior fossa cyst	727676	SNORD118	ORPHA:542310
HP:0007291	Posterior fossa cyst	79848	CSPP1	OMIM:615636
HP:0007291	Posterior fossa cyst	1801	DPH1	ORPHA:459061
HP:0007291	Posterior fossa cyst	1802	DPH2	ORPHA:459061
HP:0007291	Posterior fossa cyst	29954	POMT2	OMIM:236670
HP:0007291	Posterior fossa cyst	79147	FKRP	OMIM:236670
HP:0007291	Posterior fossa cyst	2218	FKTN	OMIM:236670
HP:0007291	Posterior fossa cyst	10585	POMT1	OMIM:236670
HP:0007291	Posterior fossa cyst	9215	LARGE1	OMIM:236670
HP:0007291	Posterior fossa cyst	2263	FGFR2	OMIM:101200
HP:0007291	Posterior fossa cyst	22827	PUF60	ORPHA:508498
HP:0007293	Anterior sacral meningocele	81839	VANGL1	OMIM:600145
HP:0007293	Anterior sacral meningocele	3110	MNX1	ORPHA:1552
HP:0007293	Anterior sacral meningocele	3110	MNX1	OMIM:176450
HP:0012590	Abnormal urine output	83483	PLVAP	OMIM:618183
HP:0012590	Abnormal urine output	10916	MAGED2	OMIM:300971
HP:0012590	Abnormal urine output	261734	NPHP4	OMIM:606996
HP:0012590	Abnormal urine output	261734	NPHP4	OMIM:606966
HP:0012590	Abnormal urine output	1497	CTNS	OMIM:219800
HP:0012590	Abnormal urine output	7369	UMOD	OMIM:162000
HP:0012590	Abnormal urine output	1187	CLCNKA	OMIM:613090
HP:0012590	Abnormal urine output	1188	CLCNKB	OMIM:613090
HP:0012590	Abnormal urine output	1188	CLCNKB	OMIM:607364
HP:0012590	Abnormal urine output	9071	CLDN10	OMIM:617671
HP:0012590	Abnormal urine output	9365	KL	OMIM:617994
HP:0012590	Abnormal urine output	54757	FAM20A	OMIM:204690
HP:0012590	Abnormal urine output	91147	TMEM67	OMIM:613550
HP:0012590	Abnormal urine output	3766	KCNJ10	OMIM:612780
HP:0012590	Abnormal urine output	6569	SLC34A1	OMIM:616963
HP:0012590	Abnormal urine output	284086	NEK8	OMIM:620903
HP:0012590	Abnormal urine output	284086	NEK8	OMIM:613824
HP:0012590	Abnormal urine output	359	AQP2	OMIM:125800
HP:0012590	Abnormal urine output	54585	LZTFL1	OMIM:615994
HP:0012590	Abnormal urine output	3762	KCNJ5	OMIM:613677
HP:0012590	Abnormal urine output	5078	PAX4	OMIM:612225
HP:0012590	Abnormal urine output	857	CAV1	OMIM:606721
HP:0012590	Abnormal urine output	6557	SLC12A1	OMIM:601678
HP:0012590	Abnormal urine output	7809	BSND	OMIM:602522
HP:0012590	Abnormal urine output	4867	NPHP1	OMIM:266900
HP:0012590	Abnormal urine output	4867	NPHP1	OMIM:256100
HP:0012590	Abnormal urine output	26191	PTPN22	OMIM:222100
HP:0012590	Abnormal urine output	3710	ITPR3	OMIM:222100
HP:0012590	Abnormal urine output	3569	IL6	OMIM:222100
HP:0012590	Abnormal urine output	6927	HNF1A	OMIM:222100
HP:0012590	Abnormal urine output	254428	SLC41A1	OMIM:619468
HP:0012590	Abnormal urine output	6651	SON	OMIM:617140
HP:0012590	Abnormal urine output	554	AVPR2	OMIM:304800
HP:0012590	Abnormal urine output	583	BBS2	OMIM:615981
HP:0012590	Abnormal urine output	3758	KCNJ1	OMIM:241200
HP:0012590	Abnormal urine output	1591	CYP24A1	OMIM:143880
HP:0012590	Abnormal urine output	476	ATP1A1	OMIM:618314
HP:0012590	Abnormal urine output	10686	CLDN16	OMIM:248250
HP:0012590	Abnormal urine output	6559	SLC12A3	OMIM:263800
HP:0012590	Abnormal urine output	54938	SARS2	OMIM:613845
HP:0012590	Abnormal urine output	27031	NPHP3	OMIM:604387
HP:0012590	Abnormal urine output	846	CASR	OMIM:239200
HP:0012590	Abnormal urine output	6524	SLC5A2	OMIM:233100
HP:0012590	Abnormal urine output	58528	RRAGD	OMIM:620152
HP:0012590	Abnormal urine output	1636	ACE	OMIM:267430
HP:0012590	Abnormal urine output	183	AGT	OMIM:267430
HP:0012590	Abnormal urine output	185	AGTR1	OMIM:267430
HP:0012590	Abnormal urine output	5972	REN	OMIM:267430
HP:0012590	Abnormal urine output	4629	MYH11	OMIM:619351
HP:0012590	Abnormal urine output	4179	CD46	OMIM:612922
HP:0012590	Abnormal urine output	629	CFB	OMIM:612924
HP:0012590	Abnormal urine output	3426	CFI	OMIM:612923
HP:0012590	Abnormal urine output	7056	THBD	OMIM:612926
HP:0012590	Abnormal urine output	10878	CFHR3	OMIM:235400
HP:0012590	Abnormal urine output	3075	CFH	OMIM:235400
HP:0012590	Abnormal urine output	3078	CFHR1	OMIM:235400
HP:0012590	Abnormal urine output	718	C3	OMIM:612925
HP:0012590	Abnormal urine output	5076	PAX2	ORPHA:97362
HP:0012590	Abnormal urine output	5087	PBX1	ORPHA:97362
HP:0012590	Abnormal urine output	116085	SLC22A12	OMIM:220150
HP:0012590	Abnormal urine output	353	APRT	OMIM:614723
HP:0012590	Abnormal urine output	353	APRT	ORPHA:976
HP:0012590	Abnormal urine output	1235	CCR6	ORPHA:220393
HP:0012590	Abnormal urine output	1490	CCN2	ORPHA:220393
HP:0012590	Abnormal urine output	3663	IRF5	ORPHA:220393
HP:0012590	Abnormal urine output	3123	HLA-DRB1	ORPHA:220393
HP:0012590	Abnormal urine output	84033	OBSCN	ORPHA:99845
HP:0012590	Abnormal urine output	23175	LPIN1	ORPHA:99845
HP:0012590	Abnormal urine output	4512	MT-CO1	ORPHA:99845
HP:0012590	Abnormal urine output	4514	MT-CO3	ORPHA:99845
HP:0012590	Abnormal urine output	6261	RYR1	ORPHA:466650
HP:0012590	Abnormal urine output	788	SLC25A20	ORPHA:159
HP:0012590	Abnormal urine output	199221	DZIP1L	ORPHA:731
HP:0012590	Abnormal urine output	5314	PKHD1	ORPHA:731
HP:0012591	Abnormal urinary electrolyte concentration	2778	GNAS	ORPHA:562
HP:0012591	Abnormal urinary electrolyte concentration	3636	INPPL1	OMIM:258480
HP:0012591	Abnormal urinary electrolyte concentration	1758	DMP1	ORPHA:289176
HP:0012591	Abnormal urinary electrolyte concentration	5167	ENPP1	ORPHA:289176
HP:0012591	Abnormal urinary electrolyte concentration	9368	NHERF1	OMIM:612287
HP:0012591	Abnormal urinary electrolyte concentration	6337	SCNN1A	OMIM:264350
HP:0012591	Abnormal urinary electrolyte concentration	1589	CYP21A2	OMIM:201910
HP:0012591	Abnormal urinary electrolyte concentration	6770	STAR	OMIM:201710
HP:0012591	Abnormal urinary electrolyte concentration	6770	STAR	ORPHA:361
HP:0012591	Abnormal urinary electrolyte concentration	7809	BSND	ORPHA:89938
HP:0012591	Abnormal urinary electrolyte concentration	7809	BSND	OMIM:602522
HP:0012591	Abnormal urinary electrolyte concentration	1188	CLCNKB	ORPHA:89938
HP:0012591	Abnormal urinary electrolyte concentration	1188	CLCNKB	OMIM:613090
HP:0012591	Abnormal urinary electrolyte concentration	1188	CLCNKB	OMIM:607364
HP:0012591	Abnormal urinary electrolyte concentration	1187	CLCNKA	ORPHA:89938
HP:0012591	Abnormal urinary electrolyte concentration	1187	CLCNKA	OMIM:613090
HP:0012591	Abnormal urinary electrolyte concentration	9231	DLG5	OMIM:620703
HP:0012591	Abnormal urinary electrolyte concentration	1583	CYP11A1	ORPHA:168558
HP:0012591	Abnormal urinary electrolyte concentration	1583	CYP11A1	ORPHA:289548
HP:0012591	Abnormal urinary electrolyte concentration	1583	CYP11A1	OMIM:613743
HP:0012591	Abnormal urinary electrolyte concentration	1585	CYP11B2	OMIM:203400
HP:0012591	Abnormal urinary electrolyte concentration	1585	CYP11B2	OMIM:610600
HP:0012591	Abnormal urinary electrolyte concentration	56246	MRAP	ORPHA:361
HP:0012591	Abnormal urinary electrolyte concentration	4158	MC2R	ORPHA:361
HP:0012591	Abnormal urinary electrolyte concentration	23530	NNT	ORPHA:361
HP:0012591	Abnormal urinary electrolyte concentration	23530	NNT	OMIM:614736
HP:0012591	Abnormal urinary electrolyte concentration	10587	TXNRD2	ORPHA:361
HP:0012591	Abnormal urinary electrolyte concentration	190	NR0B1	OMIM:300200
HP:0012591	Abnormal urinary electrolyte concentration	6557	SLC12A1	OMIM:601678
HP:0012591	Abnormal urinary electrolyte concentration	3758	KCNJ1	OMIM:241200
HP:0012591	Abnormal urinary electrolyte concentration	4582	MUC1	OMIM:174000
HP:0012591	Abnormal urinary electrolyte concentration	3773	KCNJ16	OMIM:619406
HP:0012591	Abnormal urinary electrolyte concentration	54938	SARS2	OMIM:613845
HP:0012591	Abnormal urinary electrolyte concentration	3284	HSD3B2	ORPHA:90791
HP:0012591	Abnormal urinary electrolyte concentration	1584	CYP11B1	ORPHA:90795
HP:0012591	Abnormal urinary electrolyte concentration	476	ATP1A1	OMIM:618314
HP:0012591	Abnormal urinary electrolyte concentration	476	ATP1A1	ORPHA:564178
HP:0012591	Abnormal urinary electrolyte concentration	9949	AMMECR1	OMIM:300990
HP:0012591	Abnormal urinary electrolyte concentration	4952	OCRL	OMIM:300555
HP:0012591	Abnormal urinary electrolyte concentration	4952	OCRL	ORPHA:534
HP:0012591	Abnormal urinary electrolyte concentration	1184	CLCN5	OMIM:300554
HP:0012591	Abnormal urinary electrolyte concentration	1184	CLCN5	OMIM:308990
HP:0012591	Abnormal urinary electrolyte concentration	1184	CLCN5	OMIM:300009
HP:0012591	Abnormal urinary electrolyte concentration	1184	CLCN5	OMIM:310468
HP:0012591	Abnormal urinary electrolyte concentration	51604	PIGT	OMIM:615398
HP:0012591	Abnormal urinary electrolyte concentration	51604	PIGT	ORPHA:369837
HP:0012591	Abnormal urinary electrolyte concentration	142680	SLC34A3	OMIM:241530
HP:0012591	Abnormal urinary electrolyte concentration	142680	SLC34A3	ORPHA:157215
HP:0012591	Abnormal urinary electrolyte concentration	6569	SLC34A1	OMIM:616963
HP:0012591	Abnormal urinary electrolyte concentration	6569	SLC34A1	OMIM:612286
HP:0012591	Abnormal urinary electrolyte concentration	6569	SLC34A1	OMIM:613388
HP:0012591	Abnormal urinary electrolyte concentration	6569	SLC34A1	ORPHA:3337
HP:0012591	Abnormal urinary electrolyte concentration	6569	SLC34A1	ORPHA:157215
HP:0012591	Abnormal urinary electrolyte concentration	3643	INSR	ORPHA:508
HP:0012591	Abnormal urinary electrolyte concentration	6804	STX1A	ORPHA:904
HP:0012591	Abnormal urinary electrolyte concentration	7461	CLIP2	ORPHA:904
HP:0012591	Abnormal urinary electrolyte concentration	84277	DNAJC30	ORPHA:904
HP:0012591	Abnormal urinary electrolyte concentration	8468	FKBP6	ORPHA:904
HP:0012591	Abnormal urinary electrolyte concentration	5982	RFC2	ORPHA:904
HP:0012591	Abnormal urinary electrolyte concentration	2969	GTF2I	ORPHA:904
HP:0012591	Abnormal urinary electrolyte concentration	3984	LIMK1	ORPHA:904
HP:0012591	Abnormal urinary electrolyte concentration	9569	GTF2IRD1	ORPHA:904
HP:0012591	Abnormal urinary electrolyte concentration	155382	VPS37D	ORPHA:904
HP:0012591	Abnormal urinary electrolyte concentration	155368	METTL27	ORPHA:904
HP:0012591	Abnormal urinary electrolyte concentration	114049	BUD23	ORPHA:904
HP:0012591	Abnormal urinary electrolyte concentration	7458	EIF4H	ORPHA:904
HP:0012591	Abnormal urinary electrolyte concentration	84163	GTF2IRD2	ORPHA:904
HP:0012591	Abnormal urinary electrolyte concentration	26608	TBL2	ORPHA:904
HP:0012591	Abnormal urinary electrolyte concentration	653361	NCF1	ORPHA:904
HP:0012591	Abnormal urinary electrolyte concentration	135886	TMEM270	ORPHA:904
HP:0012591	Abnormal urinary electrolyte concentration	9031	BAZ1B	ORPHA:904
HP:0012591	Abnormal urinary electrolyte concentration	2006	ELN	ORPHA:904
HP:0012591	Abnormal urinary electrolyte concentration	2006	ELN	OMIM:194050
HP:0012591	Abnormal urinary electrolyte concentration	2767	GNA11	ORPHA:428
HP:0012591	Abnormal urinary electrolyte concentration	846	CASR	ORPHA:428
HP:0012591	Abnormal urinary electrolyte concentration	846	CASR	OMIM:601198
HP:0012591	Abnormal urinary electrolyte concentration	846	CASR	OMIM:145980
HP:0012591	Abnormal urinary electrolyte concentration	846	CASR	OMIM:239200
HP:0012591	Abnormal urinary electrolyte concentration	56606	SLC2A9	ORPHA:94088
HP:0012591	Abnormal urinary electrolyte concentration	116085	SLC22A12	ORPHA:94088
HP:0012591	Abnormal urinary electrolyte concentration	55811	ADCY10	OMIM:143870
HP:0012591	Abnormal urinary electrolyte concentration	55811	ADCY10	ORPHA:2197
HP:0012591	Abnormal urinary electrolyte concentration	79577	CDC73	ORPHA:143
HP:0012591	Abnormal urinary electrolyte concentration	79577	CDC73	ORPHA:99880
HP:0012591	Abnormal urinary electrolyte concentration	79577	CDC73	ORPHA:99879
HP:0012591	Abnormal urinary electrolyte concentration	6514	SLC2A2	OMIM:227810
HP:0012591	Abnormal urinary electrolyte concentration	6514	SLC2A2	ORPHA:2088
HP:0012591	Abnormal urinary electrolyte concentration	249	ALPL	OMIM:241500
HP:0012591	Abnormal urinary electrolyte concentration	10686	CLDN16	OMIM:248250
HP:0012591	Abnormal urinary electrolyte concentration	540	ATP7B	OMIM:277900
HP:0012591	Abnormal urinary electrolyte concentration	51085	MLXIPL	OMIM:194050
HP:0012591	Abnormal urinary electrolyte concentration	1962	EHHADH	ORPHA:3337
HP:0012591	Abnormal urinary electrolyte concentration	2628	GATM	ORPHA:3337
HP:0012591	Abnormal urinary electrolyte concentration	137682	NDUFAF6	ORPHA:3337
HP:0012591	Abnormal urinary electrolyte concentration	4221	MEN1	ORPHA:652
HP:0012591	Abnormal urinary electrolyte concentration	4221	MEN1	ORPHA:99879
HP:0012591	Abnormal urinary electrolyte concentration	1027	CDKN1B	ORPHA:652
HP:0012591	Abnormal urinary electrolyte concentration	1026	CDKN1A	ORPHA:652
HP:0012591	Abnormal urinary electrolyte concentration	1030	CDKN2B	ORPHA:652
HP:0012591	Abnormal urinary electrolyte concentration	1031	CDKN2C	ORPHA:652
HP:0012591	Abnormal urinary electrolyte concentration	10916	MAGED2	OMIM:300971
HP:0012591	Abnormal urinary electrolyte concentration	1080	CFTR	OMIM:219700
HP:0012591	Abnormal urinary electrolyte concentration	2212	FCGR2A	OMIM:219700
HP:0012591	Abnormal urinary electrolyte concentration	7040	TGFB1	OMIM:219700
HP:0012591	Abnormal urinary electrolyte concentration	3123	HLA-DRB1	OMIM:181000
HP:0012591	Abnormal urinary electrolyte concentration	3123	HLA-DRB1	ORPHA:797
HP:0012591	Abnormal urinary electrolyte concentration	5745	PTH1R	OMIM:156400
HP:0012591	Abnormal urinary electrolyte concentration	8074	FGF23	OMIM:617993
HP:0012591	Abnormal urinary electrolyte concentration	5286	PIK3C2A	OMIM:618440
HP:0012591	Abnormal urinary electrolyte concentration	3762	KCNJ5	OMIM:613677
HP:0012591	Abnormal urinary electrolyte concentration	3762	KCNJ5	ORPHA:251274
HP:0012591	Abnormal urinary electrolyte concentration	6928	HNF1B	ORPHA:1309
HP:0012591	Abnormal urinary electrolyte concentration	9247	GCM2	ORPHA:99879
HP:0012591	Abnormal urinary electrolyte concentration	9247	GCM2	ORPHA:2239
HP:0012591	Abnormal urinary electrolyte concentration	4982	TNFRSF11B	OMIM:239000
HP:0012591	Abnormal urinary electrolyte concentration	50617	ATP6V0A4	OMIM:602722
HP:0012591	Abnormal urinary electrolyte concentration	149461	CLDN19	OMIM:248190
HP:0012591	Abnormal urinary electrolyte concentration	1591	CYP24A1	OMIM:143880
HP:0012591	Abnormal urinary electrolyte concentration	1028	CDKN1C	OMIM:614732
HP:0012591	Abnormal urinary electrolyte concentration	56244	BTNL2	ORPHA:797
HP:0012591	Abnormal urinary electrolyte concentration	229	ALDOB	OMIM:229600
HP:0012591	Abnormal urinary electrolyte concentration	4574	MT-TS1	OMIM:220110
HP:0012591	Abnormal urinary electrolyte concentration	4570	MT-TN	OMIM:220110
HP:0012591	Abnormal urinary electrolyte concentration	6834	SURF1	OMIM:220110
HP:0012591	Abnormal urinary electrolyte concentration	368	ABCC6	ORPHA:51608
HP:0012591	Abnormal urinary electrolyte concentration	3172	HNF4A	OMIM:616026
HP:0012591	Abnormal urinary electrolyte concentration	84334	COA8	ORPHA:436271
HP:0012591	Abnormal urinary electrolyte concentration	4893	NRAS	OMIM:163200
HP:0012591	Abnormal urinary electrolyte concentration	3845	KRAS	OMIM:163200
HP:0012591	Abnormal urinary electrolyte concentration	3265	HRAS	OMIM:163200
HP:0012591	Abnormal urinary electrolyte concentration	1175	AP2S1	OMIM:600740
HP:0012591	Abnormal urinary electrolyte concentration	486	FXYD2	OMIM:154020
HP:0012591	Abnormal urinary electrolyte concentration	9071	CLDN10	OMIM:617671
HP:0012591	Abnormal urinary electrolyte concentration	5251	PHEX	ORPHA:89936
HP:0012591	Abnormal urinary electrolyte concentration	1594	CYP27B1	OMIM:264700
HP:0012591	Abnormal urinary electrolyte concentration	6559	SLC12A3	OMIM:263800
HP:0012591	Abnormal urinary electrolyte concentration	54757	FAM20A	ORPHA:1031
HP:0012591	Abnormal urinary electrolyte concentration	55764	IFT122	OMIM:218330
HP:0012591	Abnormal urinary electrolyte concentration	9380	GRHPR	OMIM:260000
HP:0012591	Abnormal urinary electrolyte concentration	866	SERPINA6	OMIM:611489
HP:0012591	Abnormal urinary electrolyte concentration	100134444	KCNJ18	ORPHA:79102
HP:0012591	Abnormal urinary electrolyte concentration	2556	GABRA3	ORPHA:79102
HP:0012591	Abnormal urinary electrolyte concentration	779	CACNA1S	ORPHA:79102
HP:0012591	Abnormal urinary electrolyte concentration	51726	DNAJB11	ORPHA:730
HP:0012591	Abnormal urinary electrolyte concentration	23193	GANAB	ORPHA:730
HP:0012591	Abnormal urinary electrolyte concentration	5310	PKD1	ORPHA:730
HP:0012591	Abnormal urinary electrolyte concentration	5311	PKD2	ORPHA:730
HP:0012591	Abnormal urinary electrolyte concentration	29880	ALG5	ORPHA:730
HP:0012591	Abnormal urinary electrolyte concentration	9742	IFT140	ORPHA:730
HP:0012591	Abnormal urinary electrolyte concentration	79796	ALG9	ORPHA:730
HP:0012591	Abnormal urinary electrolyte concentration	80114	BICC1	ORPHA:730
HP:0012591	Abnormal urinary electrolyte concentration	3766	KCNJ10	ORPHA:199343
HP:0012591	Abnormal urinary electrolyte concentration	51473	DCDC2	ORPHA:84081
HP:0012591	Abnormal urinary electrolyte concentration	91147	TMEM67	ORPHA:84081
HP:0012591	Abnormal urinary electrolyte concentration	1497	CTNS	ORPHA:411634
HP:0012591	Abnormal urinary electrolyte concentration	3291	HSD11B2	ORPHA:320
HP:0012591	Abnormal urinary electrolyte concentration	554	AVPR2	OMIM:300539
HP:0012591	Abnormal urinary electrolyte concentration	29927	SEC61A1	OMIM:617056
HP:0012592	Albuminuria	51726	DNAJB11	ORPHA:730
HP:0012592	Albuminuria	23193	GANAB	ORPHA:730
HP:0012592	Albuminuria	5310	PKD1	ORPHA:730
HP:0012592	Albuminuria	5311	PKD2	ORPHA:730
HP:0012592	Albuminuria	29880	ALG5	ORPHA:730
HP:0012592	Albuminuria	9742	IFT140	ORPHA:730
HP:0012592	Albuminuria	79796	ALG9	ORPHA:730
HP:0012592	Albuminuria	80114	BICC1	ORPHA:730
HP:0012592	Albuminuria	2592	GALT	OMIM:230400
HP:0012592	Albuminuria	1285	COL4A3	OMIM:620536
HP:0012592	Albuminuria	8029	CUBN	OMIM:618884
HP:0012592	Albuminuria	4000	LMNA	OMIM:151660
HP:0012592	Albuminuria	5189	PEX1	OMIM:214100
HP:0012592	Albuminuria	2542	SLC37A4	OMIM:619525
HP:0012592	Albuminuria	81693	AMN	OMIM:618882
HP:0012592	Albuminuria	375056	MIA3	OMIM:619269
HP:0012592	Albuminuria	51124	IER3IP1	OMIM:614231
HP:0012592	Albuminuria	3767	KCNJ11	ORPHA:99885
HP:0012592	Albuminuria	6774	STAT3	ORPHA:99885
HP:0012592	Albuminuria	2645	GCK	ORPHA:99885
HP:0012592	Albuminuria	3651	PDX1	ORPHA:99885
HP:0012592	Albuminuria	6833	ABCC8	ORPHA:99885
HP:0012592	Albuminuria	3630	INS	ORPHA:99885
HP:0012593	Nephrotic range proteinuria	50485	SMARCAL1	ORPHA:1830
HP:0012593	Nephrotic range proteinuria	975	CD81	OMIM:613496
HP:0012593	Nephrotic range proteinuria	1650	DDOST	ORPHA:300536
HP:0012593	Nephrotic range proteinuria	9722	NOS1AP	OMIM:619155
HP:0012594	Moderate albuminuria	2542	SLC37A4	OMIM:619525
HP:0012594	Moderate albuminuria	81693	AMN	OMIM:618882
HP:0012594	Moderate albuminuria	375056	MIA3	OMIM:619269
HP:0012594	Moderate albuminuria	51124	IER3IP1	OMIM:614231
HP:0012594	Moderate albuminuria	3767	KCNJ11	ORPHA:99885
HP:0012594	Moderate albuminuria	6774	STAT3	ORPHA:99885
HP:0012594	Moderate albuminuria	2645	GCK	ORPHA:99885
HP:0012594	Moderate albuminuria	3651	PDX1	ORPHA:99885
HP:0012594	Moderate albuminuria	6833	ABCC8	ORPHA:99885
HP:0012594	Moderate albuminuria	3630	INS	ORPHA:99885
HP:0012595	Mild proteinuria	57728	WDR19	OMIM:614377
HP:0012595	Mild proteinuria	1736	DKC1	OMIM:301108
HP:0012595	Mild proteinuria	55610	VPS50	OMIM:619685
HP:0012595	Mild proteinuria	3735	KARS1	OMIM:619147
HP:0012595	Mild proteinuria	56606	SLC2A9	ORPHA:94088
HP:0012595	Mild proteinuria	116085	SLC22A12	ORPHA:94088
HP:0012595	Mild proteinuria	5076	PAX2	OMIM:120330
HP:0012596	Moderate proteinuria	29071	C1GALT1C1	OMIM:301110
HP:0012597	Heavy proteinuria	65082	VPS33A	ORPHA:505248
HP:0012598	Abnormal urine potassium concentration	476	ATP1A1	OMIM:618314
HP:0012598	Abnormal urine potassium concentration	476	ATP1A1	ORPHA:564178
HP:0012598	Abnormal urine potassium concentration	6557	SLC12A1	OMIM:601678
HP:0012598	Abnormal urine potassium concentration	6559	SLC12A3	OMIM:263800
HP:0012598	Abnormal urine potassium concentration	6559	SLC12A3	ORPHA:358
HP:0012598	Abnormal urine potassium concentration	1188	CLCNKB	ORPHA:358
HP:0012598	Abnormal urine potassium concentration	1188	CLCNKB	OMIM:607364
HP:0012598	Abnormal urine potassium concentration	3758	KCNJ1	OMIM:241200
HP:0012598	Abnormal urine potassium concentration	3766	KCNJ10	OMIM:612780
HP:0012598	Abnormal urine potassium concentration	7809	BSND	ORPHA:89938
HP:0012598	Abnormal urine potassium concentration	7809	BSND	OMIM:602522
HP:0012598	Abnormal urine potassium concentration	1187	CLCNKA	ORPHA:89938
HP:0012598	Abnormal urine potassium concentration	1187	CLCNKA	OMIM:613090
HP:0012598	Abnormal urine potassium concentration	1962	EHHADH	ORPHA:3337
HP:0012598	Abnormal urine potassium concentration	2628	GATM	ORPHA:3337
HP:0012598	Abnormal urine potassium concentration	137682	NDUFAF6	ORPHA:3337
HP:0012598	Abnormal urine potassium concentration	6569	SLC34A1	ORPHA:3337
HP:0012598	Abnormal urine potassium concentration	866	SERPINA6	OMIM:611489
HP:0012598	Abnormal urine potassium concentration	100134444	KCNJ18	ORPHA:79102
HP:0012598	Abnormal urine potassium concentration	2556	GABRA3	ORPHA:79102
HP:0012598	Abnormal urine potassium concentration	779	CACNA1S	ORPHA:79102
HP:0012598	Abnormal urine potassium concentration	1583	CYP11A1	ORPHA:289548
HP:0012598	Abnormal urine potassium concentration	1583	CYP11A1	ORPHA:168558
HP:0012598	Abnormal urine potassium concentration	1497	CTNS	ORPHA:411634
HP:0012599	Abnormal urine phosphate concentration	2778	GNAS	ORPHA:562
HP:0012599	Abnormal urine phosphate concentration	5251	PHEX	OMIM:307800
HP:0012599	Abnormal urine phosphate concentration	5251	PHEX	ORPHA:89936
HP:0012599	Abnormal urine phosphate concentration	3636	INPPL1	OMIM:258480
HP:0012599	Abnormal urine phosphate concentration	1594	CYP27B1	OMIM:264700
HP:0012599	Abnormal urine phosphate concentration	1184	CLCN5	OMIM:300554
HP:0012599	Abnormal urine phosphate concentration	1184	CLCN5	OMIM:300009
HP:0012599	Abnormal urine phosphate concentration	1758	DMP1	ORPHA:289176
HP:0012599	Abnormal urine phosphate concentration	5167	ENPP1	ORPHA:289176
HP:0012599	Abnormal urine phosphate concentration	142680	SLC34A3	OMIM:241530
HP:0012599	Abnormal urine phosphate concentration	9368	NHERF1	OMIM:612287
HP:0012599	Abnormal urine phosphate concentration	6569	SLC34A1	OMIM:616963
HP:0012599	Abnormal urine phosphate concentration	6569	SLC34A1	OMIM:612286
HP:0012599	Abnormal urine phosphate concentration	6569	SLC34A1	OMIM:613388
HP:0012599	Abnormal urine phosphate concentration	6569	SLC34A1	ORPHA:3337
HP:0012599	Abnormal urine phosphate concentration	1497	CTNS	ORPHA:411634
HP:0012599	Abnormal urine phosphate concentration	8074	FGF23	OMIM:193100
HP:0012599	Abnormal urine phosphate concentration	1962	EHHADH	ORPHA:3337
HP:0012599	Abnormal urine phosphate concentration	2628	GATM	ORPHA:3337
HP:0012599	Abnormal urine phosphate concentration	137682	NDUFAF6	ORPHA:3337
HP:0012599	Abnormal urine phosphate concentration	5745	PTH1R	OMIM:156400
HP:0012599	Abnormal urine phosphate concentration	229	ALDOB	OMIM:229600
HP:0012599	Abnormal urine phosphate concentration	4574	MT-TS1	OMIM:220110
HP:0012599	Abnormal urine phosphate concentration	4570	MT-TN	OMIM:220110
HP:0012599	Abnormal urine phosphate concentration	6834	SURF1	OMIM:220110
HP:0012599	Abnormal urine phosphate concentration	368	ABCC6	ORPHA:51608
HP:0012599	Abnormal urine phosphate concentration	3172	HNF4A	OMIM:616026
HP:0012599	Abnormal urine phosphate concentration	84334	COA8	ORPHA:436271
HP:0012599	Abnormal urine phosphate concentration	4221	MEN1	ORPHA:99879
HP:0012599	Abnormal urine phosphate concentration	9247	GCM2	ORPHA:99879
HP:0012599	Abnormal urine phosphate concentration	79577	CDC73	ORPHA:99879
HP:0012599	Abnormal urine phosphate concentration	4893	NRAS	OMIM:163200
HP:0012599	Abnormal urine phosphate concentration	3845	KRAS	OMIM:163200
HP:0012599	Abnormal urine phosphate concentration	3265	HRAS	OMIM:163200
HP:0012599	Abnormal urine phosphate concentration	4952	OCRL	OMIM:309000
HP:0012599	Abnormal urine phosphate concentration	6514	SLC2A2	OMIM:227810
HP:0012599	Abnormal urine phosphate concentration	6514	SLC2A2	ORPHA:2088
HP:0012599	Abnormal urine phosphate concentration	540	ATP7B	OMIM:277900
HP:0012599	Abnormal urine phosphate concentration	846	CASR	OMIM:239200
HP:0012599	Abnormal urine phosphate concentration	54757	FAM20A	ORPHA:1031
HP:0007351	Upper limb postural tremor	10382	TUBB4A	ORPHA:98805
HP:0007351	Upper limb postural tremor	8398	PLA2G6	OMIM:612953
HP:0007351	Upper limb postural tremor	9256	TSPOAP1	OMIM:620456
HP:0007351	Upper limb postural tremor	1293	COL6A3	ORPHA:464440
HP:0007351	Upper limb postural tremor	3708	ITPR1	ORPHA:98769
HP:0007351	Upper limb postural tremor	8913	CACNA1G	ORPHA:458803
HP:0007351	Upper limb postural tremor	79587	CARS2	ORPHA:477774
HP:0007351	Upper limb postural tremor	4001	LMNB1	ORPHA:99027
HP:0007351	Upper limb postural tremor	63982	ANO3	ORPHA:420485
HP:0007351	Upper limb postural tremor	5376	PMP22	OMIM:180800
HP:0007351	Upper limb postural tremor	4359	MPZ	OMIM:180800
HP:0007299	Dysfunction of lateral corticospinal tracts	5080	PAX6	ORPHA:893
HP:0007299	Dysfunction of lateral corticospinal tracts	7490	WT1	ORPHA:893
HP:0007299	Dysfunction of lateral corticospinal tracts	627	BDNF	ORPHA:893
HP:0007299	Dysfunction of lateral corticospinal tracts	5832	ALDH18A1	OMIM:601162
HP:0030179	Abnormal peripheral action potential amplitude	10397	NDRG1	ORPHA:99950
HP:0030179	Abnormal peripheral action potential amplitude	7384	UQCRC1	OMIM:619279
HP:0030179	Abnormal peripheral action potential amplitude	2395	FXN	OMIM:229300
HP:0030179	Abnormal peripheral action potential amplitude	6652	SORD	OMIM:618912
HP:0030179	Abnormal peripheral action potential amplitude	22948	CCT5	OMIM:256840
HP:0030179	Abnormal peripheral action potential amplitude	22880	MORC2	OMIM:616688
HP:0030179	Abnormal peripheral action potential amplitude	23230	VPS13A	ORPHA:2388
HP:0030179	Abnormal peripheral action potential amplitude	8449	DHX16	OMIM:618733
HP:0030179	Abnormal peripheral action potential amplitude	81790	RNF170	OMIM:608984
HP:0030179	Abnormal peripheral action potential amplitude	4000	LMNA	ORPHA:98856
HP:0030179	Abnormal peripheral action potential amplitude	6310	ATXN1	OMIM:164400
HP:0030179	Abnormal peripheral action potential amplitude	26353	HSPB8	OMIM:608673
HP:0030179	Abnormal peripheral action potential amplitude	10558	SPTLC1	ORPHA:36386
HP:0030179	Abnormal peripheral action potential amplitude	25923	ATL3	ORPHA:36386
HP:0030179	Abnormal peripheral action potential amplitude	9517	SPTLC2	ORPHA:36386
HP:0030179	Abnormal peripheral action potential amplitude	51062	ATL1	ORPHA:36386
HP:0030179	Abnormal peripheral action potential amplitude	59341	TRPV4	OMIM:606071
HP:0030179	Abnormal peripheral action potential amplitude	54332	GDAP1	OMIM:607706
HP:0030179	Abnormal peripheral action potential amplitude	5981	RFC1	OMIM:614575
HP:0030179	Abnormal peripheral action potential amplitude	81846	SBF2	ORPHA:99956
HP:0030179	Abnormal peripheral action potential amplitude	4747	NEFL	OMIM:607684
HP:0030179	Abnormal peripheral action potential amplitude	4358	MPV17	OMIM:618400
HP:0030179	Abnormal peripheral action potential amplitude	9516	LITAF	OMIM:601098
HP:0030179	Abnormal peripheral action potential amplitude	3098	HK1	ORPHA:99953
HP:0030179	Abnormal peripheral action potential amplitude	127833	SYT2	OMIM:616040
HP:0030179	Abnormal peripheral action potential amplitude	10342	TFG	ORPHA:90117
HP:0030179	Abnormal peripheral action potential amplitude	10049	DNAJB6	OMIM:603511
HP:0030179	Abnormal peripheral action potential amplitude	23064	SETX	OMIM:602433
HP:0030179	Abnormal peripheral action potential amplitude	7879	RAB7A	OMIM:600882
HP:0030179	Abnormal peripheral action potential amplitude	10280	SIGMAR1	OMIM:605726
HP:0030179	Abnormal peripheral action potential amplitude	11117	EMILIN1	OMIM:620080
HP:0030179	Abnormal peripheral action potential amplitude	6843	VAMP1	OMIM:618323
HP:0030179	Abnormal peripheral action potential amplitude	5375	PMP2	OMIM:618279
HP:0030179	Abnormal peripheral action potential amplitude	7317	UBA1	OMIM:301830
HP:0030179	Abnormal peripheral action potential amplitude	26580	BSCL2	OMIM:619112
HP:0030179	Abnormal peripheral action potential amplitude	6709	SPTAN1	OMIM:620528
HP:0030179	Abnormal peripheral action potential amplitude	57863	CADM3	OMIM:619519
HP:0030179	Abnormal peripheral action potential amplitude	3735	KARS1	OMIM:613641
HP:0030179	Abnormal peripheral action potential amplitude	93627	TBCK	OMIM:616900
HP:0030179	Abnormal peripheral action potential amplitude	57679	ALS2	OMIM:606353
HP:0030178	Abnormality of central nervous system electrophysiology	2074	ERCC6	OMIM:133540
HP:0030178	Abnormality of central nervous system electrophysiology	410	ARSA	ORPHA:309271
HP:0030178	Abnormality of central nervous system electrophysiology	410	ARSA	ORPHA:309256
HP:0030178	Abnormality of central nervous system electrophysiology	410	ARSA	ORPHA:309263
HP:0030178	Abnormality of central nervous system electrophysiology	5660	PSAP	ORPHA:309271
HP:0030178	Abnormality of central nervous system electrophysiology	5660	PSAP	ORPHA:309256
HP:0030178	Abnormality of central nervous system electrophysiology	5660	PSAP	ORPHA:206436
HP:0030178	Abnormality of central nervous system electrophysiology	5660	PSAP	ORPHA:309263
HP:0030178	Abnormality of central nervous system electrophysiology	7345	UCHL1	OMIM:615491
HP:0030178	Abnormality of central nervous system electrophysiology	51102	MECR	ORPHA:508093
HP:0030178	Abnormality of central nervous system electrophysiology	57165	GJC2	ORPHA:320401
HP:0030178	Abnormality of central nervous system electrophysiology	2395	FXN	OMIM:229300
HP:0030178	Abnormality of central nervous system electrophysiology	1593	CYP27A1	ORPHA:909
HP:0030178	Abnormality of central nervous system electrophysiology	8842	PROM1	ORPHA:827
HP:0030178	Abnormality of central nervous system electrophysiology	5961	PRPH2	ORPHA:827
HP:0030178	Abnormality of central nervous system electrophysiology	6785	ELOVL4	ORPHA:827
HP:0030178	Abnormality of central nervous system electrophysiology	6785	ELOVL4	OMIM:614457
HP:0030178	Abnormality of central nervous system electrophysiology	24	ABCA4	ORPHA:827
HP:0030178	Abnormality of central nervous system electrophysiology	54714	CNGB3	ORPHA:827
HP:0030178	Abnormality of central nervous system electrophysiology	5428	POLG	OMIM:203700
HP:0030178	Abnormality of central nervous system electrophysiology	8398	PLA2G6	ORPHA:35069
HP:0030178	Abnormality of central nervous system electrophysiology	8398	PLA2G6	OMIM:256600
HP:0030178	Abnormality of central nervous system electrophysiology	84277	DNAJC30	ORPHA:104
HP:0030178	Abnormality of central nervous system electrophysiology	4536	MT-ND2	ORPHA:104
HP:0030178	Abnormality of central nervous system electrophysiology	4720	NDUFS2	ORPHA:104
HP:0030178	Abnormality of central nervous system electrophysiology	4519	MT-CYB	ORPHA:104
HP:0030178	Abnormality of central nervous system electrophysiology	4508	MT-ATP6	ORPHA:104
HP:0030178	Abnormality of central nervous system electrophysiology	4539	MT-ND4L	ORPHA:104
HP:0030178	Abnormality of central nervous system electrophysiology	22930	RAB3GAP1	ORPHA:2510
HP:0030178	Abnormality of central nervous system electrophysiology	25782	RAB3GAP2	ORPHA:2510
HP:0030178	Abnormality of central nervous system electrophysiology	22931	RAB18	ORPHA:2510
HP:0030178	Abnormality of central nervous system electrophysiology	128637	TBC1D20	ORPHA:2510
HP:0030178	Abnormality of central nervous system electrophysiology	8086	AAAS	OMIM:231550
HP:0030178	Abnormality of central nervous system electrophysiology	10312	TCIRG1	ORPHA:667
HP:0030178	Abnormality of central nervous system electrophysiology	1186	CLCN7	ORPHA:667
HP:0030178	Abnormality of central nervous system electrophysiology	29887	SNX10	ORPHA:667
HP:0030178	Abnormality of central nervous system electrophysiology	8600	TNFSF11	ORPHA:667
HP:0030178	Abnormality of central nervous system electrophysiology	1678	TIMM8A	ORPHA:52368
HP:0030178	Abnormality of central nervous system electrophysiology	7274	TTPA	ORPHA:96
HP:0030178	Abnormality of central nervous system electrophysiology	10397	NDRG1	OMIM:601455
HP:0030178	Abnormality of central nervous system electrophysiology	9181	ARHGEF2	OMIM:617523
HP:0030178	Abnormality of central nervous system electrophysiology	7841	MOGS	ORPHA:79330
HP:0030178	Abnormality of central nervous system electrophysiology	7299	TYR	ORPHA:79431
HP:0030178	Abnormality of central nervous system electrophysiology	1161	ERCC8	OMIM:216400
HP:0030178	Abnormality of central nervous system electrophysiology	9927	MFN2	OMIM:601152
HP:0030178	Abnormality of central nervous system electrophysiology	8803	SUCLA2	ORPHA:1933
HP:0030178	Abnormality of central nervous system electrophysiology	3908	LAMA2	ORPHA:258
HP:0030178	Abnormality of central nervous system electrophysiology	4854	NOTCH3	OMIM:125310
HP:0030178	Abnormality of central nervous system electrophysiology	4976	OPA1	ORPHA:1215
HP:0030178	Abnormality of central nervous system electrophysiology	10501	SEMA6B	OMIM:618876
HP:0030178	Abnormality of central nervous system electrophysiology	378884	NHLRC1	ORPHA:501
HP:0030178	Abnormality of central nervous system electrophysiology	7957	EPM2A	ORPHA:501
HP:0030178	Abnormality of central nervous system electrophysiology	401474	SAMD12	OMIM:601068
HP:0030178	Abnormality of central nervous system electrophysiology	55689	YEATS2	OMIM:615127
HP:0030178	Abnormality of central nervous system electrophysiology	56910	STARD7	OMIM:607876
HP:0030178	Abnormality of central nervous system electrophysiology	10299	MARCHF6	OMIM:613608
HP:0030178	Abnormality of central nervous system electrophysiology	5138	PDE2A	OMIM:619150
HP:0030178	Abnormality of central nervous system electrophysiology	875	CBS	ORPHA:394
HP:0030178	Abnormality of central nervous system electrophysiology	2218	FKTN	ORPHA:272
HP:0030178	Abnormality of central nervous system electrophysiology	2218	FKTN	ORPHA:588
HP:0030178	Abnormality of central nervous system electrophysiology	9853	RUSC2	OMIM:617773
HP:0030178	Abnormality of central nervous system electrophysiology	23446	SLC44A1	OMIM:618868
HP:0030178	Abnormality of central nervous system electrophysiology	3265	HRAS	ORPHA:2612
HP:0030178	Abnormality of central nervous system electrophysiology	3845	KRAS	ORPHA:2612
HP:0030178	Abnormality of central nervous system electrophysiology	3845	KRAS	ORPHA:1340
HP:0030178	Abnormality of central nervous system electrophysiology	4893	NRAS	ORPHA:2612
HP:0030178	Abnormality of central nervous system electrophysiology	23334	SZT2	OMIM:615476
HP:0030178	Abnormality of central nervous system electrophysiology	60684	TRAPPC11	OMIM:615356
HP:0030178	Abnormality of central nervous system electrophysiology	2904	GRIN2B	OMIM:613970
HP:0030178	Abnormality of central nervous system electrophysiology	55624	POMGNT1	OMIM:253280
HP:0030178	Abnormality of central nervous system electrophysiology	55624	POMGNT1	ORPHA:588
HP:0030178	Abnormality of central nervous system electrophysiology	10667	FARS2	OMIM:614946
HP:0030178	Abnormality of central nervous system electrophysiology	4047	LSS	ORPHA:2850
HP:0030178	Abnormality of central nervous system electrophysiology	197	AHSG	ORPHA:2850
HP:0030178	Abnormality of central nervous system electrophysiology	3694	ITGB6	ORPHA:2850
HP:0030178	Abnormality of central nervous system electrophysiology	51	ACOX1	ORPHA:2971
HP:0030178	Abnormality of central nervous system electrophysiology	23126	POGZ	ORPHA:468678
HP:0030178	Abnormality of central nervous system electrophysiology	54209	TREM2	OMIM:618193
HP:0030178	Abnormality of central nervous system electrophysiology	387119	CEP85L	OMIM:618873
HP:0030178	Abnormality of central nervous system electrophysiology	51741	WWOX	OMIM:616211
HP:0030178	Abnormality of central nervous system electrophysiology	51741	WWOX	OMIM:614322
HP:0030178	Abnormality of central nervous system electrophysiology	1644	DDC	ORPHA:35708
HP:0030178	Abnormality of central nervous system electrophysiology	2782	GNB1	ORPHA:488613
HP:0030178	Abnormality of central nervous system electrophysiology	27245	AHDC1	ORPHA:412069
HP:0030178	Abnormality of central nervous system electrophysiology	166378	AFG2A	OMIM:616577
HP:0030178	Abnormality of central nervous system electrophysiology	166378	AFG2A	ORPHA:457351
HP:0030178	Abnormality of central nervous system electrophysiology	7532	YWHAG	OMIM:617665
HP:0030178	Abnormality of central nervous system electrophysiology	100996717	NOTCH2NLC	ORPHA:2289
HP:0030178	Abnormality of central nervous system electrophysiology	25914	RTTN	OMIM:614833
HP:0030178	Abnormality of central nervous system electrophysiology	2314	FLII	ORPHA:819
HP:0030178	Abnormality of central nervous system electrophysiology	23096	IQSEC2	ORPHA:819
HP:0030178	Abnormality of central nervous system electrophysiology	10743	RAI1	ORPHA:819
HP:0030178	Abnormality of central nervous system electrophysiology	10743	RAI1	ORPHA:1713
HP:0030178	Abnormality of central nervous system electrophysiology	10743	RAI1	OMIM:182290
HP:0030178	Abnormality of central nervous system electrophysiology	10522	DEAF1	ORPHA:819
HP:0030178	Abnormality of central nervous system electrophysiology	10522	DEAF1	OMIM:617171
HP:0030178	Abnormality of central nervous system electrophysiology	5818	NECTIN1	ORPHA:3253
HP:0030178	Abnormality of central nervous system electrophysiology	4758	NEU1	ORPHA:812
HP:0030178	Abnormality of central nervous system electrophysiology	55768	NGLY1	ORPHA:404454
HP:0030178	Abnormality of central nervous system electrophysiology	284403	WDR62	OMIM:604317
HP:0030178	Abnormality of central nervous system electrophysiology	1185	CLCN6	OMIM:619173
HP:0030178	Abnormality of central nervous system electrophysiology	6023	RMRP	ORPHA:175
HP:0030178	Abnormality of central nervous system electrophysiology	284058	KANSL1	ORPHA:363958
HP:0030178	Abnormality of central nervous system electrophysiology	284058	KANSL1	ORPHA:363965
HP:0030178	Abnormality of central nervous system electrophysiology	5105	PCK1	OMIM:261680
HP:0030178	Abnormality of central nervous system electrophysiology	6844	VAMP2	OMIM:618760
HP:0030178	Abnormality of central nervous system electrophysiology	815	CAMK2A	OMIM:617798
HP:0030178	Abnormality of central nervous system electrophysiology	9326	ZNHIT3	ORPHA:2836
HP:0030178	Abnormality of central nervous system electrophysiology	2055	CLN8	OMIM:610003
HP:0030178	Abnormality of central nervous system electrophysiology	2055	CLN8	OMIM:600143
HP:0030178	Abnormality of central nervous system electrophysiology	10939	AFG3L2	ORPHA:313772
HP:0030178	Abnormality of central nervous system electrophysiology	9839	ZEB2	ORPHA:261552
HP:0030178	Abnormality of central nervous system electrophysiology	9839	ZEB2	ORPHA:261537
HP:0030178	Abnormality of central nervous system electrophysiology	51651	PTRH2	ORPHA:456312
HP:0030178	Abnormality of central nervous system electrophysiology	1759	DNM1	ORPHA:2382
HP:0030178	Abnormality of central nervous system electrophysiology	2562	GABRB3	ORPHA:2382
HP:0030178	Abnormality of central nervous system electrophysiology	5602	MAPK10	ORPHA:2382
HP:0030178	Abnormality of central nervous system electrophysiology	773	CACNA1A	ORPHA:2382
HP:0030178	Abnormality of central nervous system electrophysiology	773	CACNA1A	ORPHA:2131
HP:0030178	Abnormality of central nervous system electrophysiology	773	CACNA1A	OMIM:617106
HP:0030178	Abnormality of central nervous system electrophysiology	773	CACNA1A	ORPHA:569
HP:0030178	Abnormality of central nervous system electrophysiology	6323	SCN1A	ORPHA:2382
HP:0030178	Abnormality of central nervous system electrophysiology	6323	SCN1A	ORPHA:569
HP:0030178	Abnormality of central nervous system electrophysiology	23316	CUX2	ORPHA:2382
HP:0030178	Abnormality of central nervous system electrophysiology	23316	CUX2	OMIM:618141
HP:0030178	Abnormality of central nervous system electrophysiology	1106	CHD2	ORPHA:2382
HP:0030178	Abnormality of central nervous system electrophysiology	23461	ABCA5	ORPHA:2026
HP:0030178	Abnormality of central nervous system electrophysiology	2783	GNB2	OMIM:619503
HP:0030178	Abnormality of central nervous system electrophysiology	26057	ANKRD17	OMIM:619504
HP:0030178	Abnormality of central nervous system electrophysiology	7468	NSD2	OMIM:194190
HP:0030178	Abnormality of central nervous system electrophysiology	10815	CPLX1	OMIM:194190
HP:0030178	Abnormality of central nervous system electrophysiology	1487	CTBP1	OMIM:194190
HP:0030178	Abnormality of central nervous system electrophysiology	53834	FGFRL1	OMIM:194190
HP:0030178	Abnormality of central nervous system electrophysiology	3954	LETM1	OMIM:194190
HP:0030178	Abnormality of central nervous system electrophysiology	383	ARG1	ORPHA:90
HP:0030178	Abnormality of central nervous system electrophysiology	7915	ALDH5A1	OMIM:271980
HP:0030178	Abnormality of central nervous system electrophysiology	4204	MECP2	OMIM:300673
HP:0030178	Abnormality of central nervous system electrophysiology	4204	MECP2	OMIM:312750
HP:0030178	Abnormality of central nervous system electrophysiology	4204	MECP2	ORPHA:3095
HP:0030178	Abnormality of central nervous system electrophysiology	4204	MECP2	ORPHA:778
HP:0030178	Abnormality of central nervous system electrophysiology	4204	MECP2	OMIM:300496
HP:0030178	Abnormality of central nervous system electrophysiology	9255	AIMP1	OMIM:260600
HP:0030178	Abnormality of central nervous system electrophysiology	79753	SNIP1	OMIM:614501
HP:0030178	Abnormality of central nervous system electrophysiology	6507	SLC1A3	ORPHA:2131
HP:0030178	Abnormality of central nervous system electrophysiology	477	ATP1A2	ORPHA:2131
HP:0030178	Abnormality of central nervous system electrophysiology	477	ATP1A2	ORPHA:569
HP:0030178	Abnormality of central nervous system electrophysiology	478	ATP1A3	ORPHA:2131
HP:0030178	Abnormality of central nervous system electrophysiology	5590	PRKCZ	ORPHA:1606
HP:0030178	Abnormality of central nervous system electrophysiology	2563	GABRD	ORPHA:1606
HP:0030178	Abnormality of central nervous system electrophysiology	23013	SPEN	ORPHA:1606
HP:0030178	Abnormality of central nervous system electrophysiology	8510	MMP23B	ORPHA:1606
HP:0030178	Abnormality of central nervous system electrophysiology	7798	LUZP1	ORPHA:1606
HP:0030178	Abnormality of central nervous system electrophysiology	6497	SKI	ORPHA:1606
HP:0030178	Abnormality of central nervous system electrophysiology	10630	PDPN	ORPHA:1606
HP:0030178	Abnormality of central nervous system electrophysiology	3339	HSPG2	ORPHA:1606
HP:0030178	Abnormality of central nervous system electrophysiology	10277	UBE4B	ORPHA:1606
HP:0030178	Abnormality of central nervous system electrophysiology	8514	KCNAB2	ORPHA:1606
HP:0030178	Abnormality of central nervous system electrophysiology	473	RERE	ORPHA:1606
HP:0030178	Abnormality of central nervous system electrophysiology	63976	PRDM16	ORPHA:1606
HP:0030178	Abnormality of central nervous system electrophysiology	54897	CASZ1	ORPHA:1606
HP:0030178	Abnormality of central nervous system electrophysiology	7337	UBE3A	OMIM:105830
HP:0030178	Abnormality of central nervous system electrophysiology	7337	UBE3A	ORPHA:98794
HP:0030178	Abnormality of central nervous system electrophysiology	7337	UBE3A	ORPHA:98795
HP:0030178	Abnormality of central nervous system electrophysiology	7337	UBE3A	ORPHA:411511
HP:0030178	Abnormality of central nervous system electrophysiology	7337	UBE3A	ORPHA:411515
HP:0030178	Abnormality of central nervous system electrophysiology	6638	SNRPN	OMIM:105830
HP:0030178	Abnormality of central nervous system electrophysiology	6638	SNRPN	OMIM:209850
HP:0030178	Abnormality of central nervous system electrophysiology	6638	SNRPN	ORPHA:411515
HP:0030178	Abnormality of central nervous system electrophysiology	148789	B3GALNT2	ORPHA:588
HP:0030178	Abnormality of central nervous system electrophysiology	29925	GMPPB	ORPHA:588
HP:0030178	Abnormality of central nervous system electrophysiology	79147	FKRP	ORPHA:588
HP:0030178	Abnormality of central nervous system electrophysiology	9215	LARGE1	ORPHA:588
HP:0030178	Abnormality of central nervous system electrophysiology	29954	POMT2	ORPHA:588
HP:0030178	Abnormality of central nervous system electrophysiology	729920	CRPPA	ORPHA:588
HP:0030178	Abnormality of central nervous system electrophysiology	10585	POMT1	ORPHA:588
HP:0030178	Abnormality of central nervous system electrophysiology	8905	AP1S2	ORPHA:85329
HP:0030178	Abnormality of central nervous system electrophysiology	4094	MAF	ORPHA:1272
HP:0030178	Abnormality of central nervous system electrophysiology	8733	GPAA1	ORPHA:529665
HP:0030178	Abnormality of central nervous system electrophysiology	8733	GPAA1	OMIM:617810
HP:0030178	Abnormality of central nervous system electrophysiology	5621	PRNP	ORPHA:157941
HP:0030178	Abnormality of central nervous system electrophysiology	27086	FOXP1	ORPHA:391372
HP:0030178	Abnormality of central nervous system electrophysiology	2232	FDXR	ORPHA:543470
HP:0030178	Abnormality of central nervous system electrophysiology	56947	MFF	ORPHA:485421
HP:0030178	Abnormality of central nervous system electrophysiology	6506	SLC1A2	OMIM:617105
HP:0030178	Abnormality of central nervous system electrophysiology	200424	TET3	OMIM:618798
HP:0030178	Abnormality of central nervous system electrophysiology	29110	TBK1	OMIM:617900
HP:0030178	Abnormality of central nervous system electrophysiology	29110	TBK1	ORPHA:1930
HP:0030178	Abnormality of central nervous system electrophysiology	256471	MFSD8	OMIM:610951
HP:0030178	Abnormality of central nervous system electrophysiology	57192	MCOLN1	ORPHA:578
HP:0030178	Abnormality of central nervous system electrophysiology	23065	EMC1	ORPHA:480898
HP:0030178	Abnormality of central nervous system electrophysiology	8813	DPM1	OMIM:608799
HP:0030178	Abnormality of central nervous system electrophysiology	55670	PEX26	ORPHA:44
HP:0030178	Abnormality of central nervous system electrophysiology	55670	PEX26	ORPHA:912
HP:0030178	Abnormality of central nervous system electrophysiology	5824	PEX19	ORPHA:44
HP:0030178	Abnormality of central nervous system electrophysiology	5824	PEX19	ORPHA:912
HP:0030178	Abnormality of central nervous system electrophysiology	5828	PEX2	ORPHA:44
HP:0030178	Abnormality of central nervous system electrophysiology	5828	PEX2	ORPHA:912
HP:0030178	Abnormality of central nervous system electrophysiology	8504	PEX3	ORPHA:44
HP:0030178	Abnormality of central nervous system electrophysiology	8504	PEX3	ORPHA:912
HP:0030178	Abnormality of central nervous system electrophysiology	9409	PEX16	ORPHA:44
HP:0030178	Abnormality of central nervous system electrophysiology	9409	PEX16	ORPHA:912
HP:0030178	Abnormality of central nervous system electrophysiology	5190	PEX6	ORPHA:44
HP:0030178	Abnormality of central nervous system electrophysiology	5190	PEX6	ORPHA:912
HP:0030178	Abnormality of central nervous system electrophysiology	8799	PEX11B	ORPHA:44
HP:0030178	Abnormality of central nervous system electrophysiology	8799	PEX11B	ORPHA:912
HP:0030178	Abnormality of central nervous system electrophysiology	8799	PEX11B	OMIM:614920
HP:0030178	Abnormality of central nervous system electrophysiology	5830	PEX5	ORPHA:44
HP:0030178	Abnormality of central nervous system electrophysiology	5830	PEX5	ORPHA:912
HP:0030178	Abnormality of central nervous system electrophysiology	5189	PEX1	ORPHA:44
HP:0030178	Abnormality of central nervous system electrophysiology	5189	PEX1	ORPHA:912
HP:0030178	Abnormality of central nervous system electrophysiology	5193	PEX12	ORPHA:44
HP:0030178	Abnormality of central nervous system electrophysiology	5193	PEX12	ORPHA:912
HP:0030178	Abnormality of central nervous system electrophysiology	5194	PEX13	ORPHA:44
HP:0030178	Abnormality of central nervous system electrophysiology	5194	PEX13	ORPHA:912
HP:0030178	Abnormality of central nervous system electrophysiology	5195	PEX14	ORPHA:44
HP:0030178	Abnormality of central nervous system electrophysiology	5195	PEX14	ORPHA:912
HP:0030178	Abnormality of central nervous system electrophysiology	5192	PEX10	ORPHA:44
HP:0030178	Abnormality of central nervous system electrophysiology	5192	PEX10	ORPHA:912
HP:0030178	Abnormality of central nervous system electrophysiology	23007	PLCH1	OMIM:619895
HP:0030178	Abnormality of central nervous system electrophysiology	26047	CNTNAP2	OMIM:610042
HP:0030178	Abnormality of central nervous system electrophysiology	340024	SLC6A19	ORPHA:2116
HP:0030178	Abnormality of central nervous system electrophysiology	57393	CLTRN	ORPHA:2116
HP:0030178	Abnormality of central nervous system electrophysiology	84168	ANTXR1	OMIM:230740
HP:0030178	Abnormality of central nervous system electrophysiology	284111	SLC13A5	ORPHA:1946
HP:0030178	Abnormality of central nervous system electrophysiology	79641	ROGDI	ORPHA:1946
HP:0030178	Abnormality of central nervous system electrophysiology	54413	NLGN3	OMIM:300425
HP:0030178	Abnormality of central nervous system electrophysiology	57505	AARS2	OMIM:614096
HP:0030178	Abnormality of central nervous system electrophysiology	3658	IREB2	OMIM:618451
HP:0030178	Abnormality of central nervous system electrophysiology	2581	GALC	OMIM:245200
HP:0030178	Abnormality of central nervous system electrophysiology	2581	GALC	ORPHA:206448
HP:0030178	Abnormality of central nervous system electrophysiology	9990	SLC12A6	ORPHA:1496
HP:0030178	Abnormality of central nervous system electrophysiology	58497	PRUNE1	ORPHA:544469
HP:0030178	Abnormality of central nervous system electrophysiology	57724	EPG5	ORPHA:1493
HP:0030178	Abnormality of central nervous system electrophysiology	6857	SYT1	OMIM:618218
HP:0030178	Abnormality of central nervous system electrophysiology	6857	SYT1	ORPHA:522077
HP:0030178	Abnormality of central nervous system electrophysiology	92609	TIMM50	ORPHA:505216
HP:0030178	Abnormality of central nervous system electrophysiology	6792	CDKL5	ORPHA:1934
HP:0030178	Abnormality of central nervous system electrophysiology	6792	CDKL5	ORPHA:3095
HP:0030178	Abnormality of central nervous system electrophysiology	3736	KCNA1	ORPHA:1934
HP:0030178	Abnormality of central nervous system electrophysiology	9091	PIGQ	ORPHA:1934
HP:0030178	Abnormality of central nervous system electrophysiology	140679	SLC32A1	ORPHA:1934
HP:0030178	Abnormality of central nervous system electrophysiology	2775	GNAO1	ORPHA:1934
HP:0030178	Abnormality of central nervous system electrophysiology	81603	TRIM8	ORPHA:1934
HP:0030178	Abnormality of central nervous system electrophysiology	2902	GRIN1	ORPHA:1934
HP:0030178	Abnormality of central nervous system electrophysiology	2902	GRIN1	OMIM:617820
HP:0030178	Abnormality of central nervous system electrophysiology	2902	GRIN1	OMIM:614254
HP:0030178	Abnormality of central nervous system electrophysiology	79751	SLC25A22	ORPHA:1934
HP:0030178	Abnormality of central nervous system electrophysiology	150094	SIK1	ORPHA:1934
HP:0030178	Abnormality of central nervous system electrophysiology	8573	CASK	ORPHA:1934
HP:0030178	Abnormality of central nervous system electrophysiology	23312	DMXL2	ORPHA:1934
HP:0030178	Abnormality of central nervous system electrophysiology	2917	GRM7	ORPHA:1934
HP:0030178	Abnormality of central nervous system electrophysiology	170302	ARX	ORPHA:1934
HP:0030178	Abnormality of central nervous system electrophysiology	170302	ARX	ORPHA:94083
HP:0030178	Abnormality of central nervous system electrophysiology	170302	ARX	OMIM:309510
HP:0030178	Abnormality of central nervous system electrophysiology	11284	PNKP	ORPHA:1934
HP:0030178	Abnormality of central nervous system electrophysiology	6326	SCN2A	ORPHA:1934
HP:0030178	Abnormality of central nervous system electrophysiology	51227	PIGP	ORPHA:1934
HP:0030178	Abnormality of central nervous system electrophysiology	6324	SCN1B	ORPHA:1934
HP:0030178	Abnormality of central nervous system electrophysiology	4761	NEUROD2	ORPHA:1934
HP:0030178	Abnormality of central nervous system electrophysiology	5813	PURA	ORPHA:314655
HP:0030178	Abnormality of central nervous system electrophysiology	2068	ERCC2	ORPHA:910
HP:0030178	Abnormality of central nervous system electrophysiology	7507	XPA	ORPHA:910
HP:0030178	Abnormality of central nervous system electrophysiology	2071	ERCC3	ORPHA:910
HP:0030178	Abnormality of central nervous system electrophysiology	7508	XPC	ORPHA:910
HP:0030178	Abnormality of central nervous system electrophysiology	1643	DDB2	ORPHA:910
HP:0030178	Abnormality of central nervous system electrophysiology	2072	ERCC4	ORPHA:910
HP:0030178	Abnormality of central nervous system electrophysiology	2073	ERCC5	ORPHA:910
HP:0030178	Abnormality of central nervous system electrophysiology	7187	TRAF3	ORPHA:1930
HP:0030178	Abnormality of central nervous system electrophysiology	81622	UNC93B1	ORPHA:1930
HP:0030178	Abnormality of central nervous system electrophysiology	148022	TICAM1	ORPHA:1930
HP:0030178	Abnormality of central nervous system electrophysiology	7098	TLR3	ORPHA:1930
HP:0030178	Abnormality of central nervous system electrophysiology	7098	TLR3	OMIM:613002
HP:0030178	Abnormality of central nervous system electrophysiology	6513	SLC2A1	ORPHA:71277
HP:0030178	Abnormality of central nervous system electrophysiology	6513	SLC2A1	OMIM:612126
HP:0030178	Abnormality of central nervous system electrophysiology	6513	SLC2A1	OMIM:606777
HP:0030178	Abnormality of central nervous system electrophysiology	435	ASL	ORPHA:23
HP:0030178	Abnormality of central nervous system electrophysiology	3155	HMGCL	ORPHA:20
HP:0030178	Abnormality of central nervous system electrophysiology	3155	HMGCL	OMIM:246450
HP:0030178	Abnormality of central nervous system electrophysiology	4558	MT-TF	ORPHA:550
HP:0030178	Abnormality of central nervous system electrophysiology	4572	MT-TQ	ORPHA:550
HP:0030178	Abnormality of central nervous system electrophysiology	4512	MT-CO1	ORPHA:550
HP:0030178	Abnormality of central nervous system electrophysiology	4513	MT-CO2	ORPHA:550
HP:0030178	Abnormality of central nervous system electrophysiology	4514	MT-CO3	ORPHA:550
HP:0030178	Abnormality of central nervous system electrophysiology	4578	MT-TW	ORPHA:550
HP:0030178	Abnormality of central nervous system electrophysiology	4540	MT-ND5	ORPHA:550
HP:0030178	Abnormality of central nervous system electrophysiology	4541	MT-ND6	ORPHA:550
HP:0030178	Abnormality of central nervous system electrophysiology	4535	MT-ND1	ORPHA:550
HP:0030178	Abnormality of central nervous system electrophysiology	4538	MT-ND4	ORPHA:550
HP:0030178	Abnormality of central nervous system electrophysiology	4567	MT-TL1	ORPHA:550
HP:0030178	Abnormality of central nervous system electrophysiology	4574	MT-TS1	ORPHA:550
HP:0030178	Abnormality of central nervous system electrophysiology	4575	MT-TS2	ORPHA:550
HP:0030178	Abnormality of central nervous system electrophysiology	4564	MT-TH	ORPHA:550
HP:0030178	Abnormality of central nervous system electrophysiology	8243	SMC1A	OMIM:301044
HP:0030178	Abnormality of central nervous system electrophysiology	8243	SMC1A	ORPHA:3095
HP:0030178	Abnormality of central nervous system electrophysiology	10785	WDR4	OMIM:618346
HP:0030178	Abnormality of central nervous system electrophysiology	10785	WDR4	ORPHA:2065
HP:0030178	Abnormality of central nervous system electrophysiology	2290	FOXG1	OMIM:613454
HP:0030178	Abnormality of central nervous system electrophysiology	29123	ANKRD11	ORPHA:2332
HP:0030178	Abnormality of central nervous system electrophysiology	83548	COG3	OMIM:620546
HP:0030178	Abnormality of central nervous system electrophysiology	11267	SNF8	OMIM:620784
HP:0030178	Abnormality of central nervous system electrophysiology	11267	SNF8	OMIM:620783
HP:0030178	Abnormality of central nervous system electrophysiology	22854	NTNG1	ORPHA:3095
HP:0030178	Abnormality of central nervous system electrophysiology	9568	GABBR2	ORPHA:3095
HP:0030178	Abnormality of central nervous system electrophysiology	1387	CREBBP	ORPHA:353281
HP:0030178	Abnormality of central nervous system electrophysiology	1387	CREBBP	OMIM:180849
HP:0030178	Abnormality of central nervous system electrophysiology	1387	CREBBP	ORPHA:353277
HP:0030178	Abnormality of central nervous system electrophysiology	23395	LARS2	OMIM:617021
HP:0030178	Abnormality of central nervous system electrophysiology	57520	HECW2	OMIM:617268
HP:0030178	Abnormality of central nervous system electrophysiology	8085	KMT2D	ORPHA:2322
HP:0030178	Abnormality of central nervous system electrophysiology	7403	KDM6A	ORPHA:2322
HP:0030178	Abnormality of central nervous system electrophysiology	2033	EP300	ORPHA:353284
HP:0030178	Abnormality of central nervous system electrophysiology	2033	EP300	OMIM:180849
HP:0030178	Abnormality of central nervous system electrophysiology	2561	GABRB2	OMIM:617829
HP:0030178	Abnormality of central nervous system electrophysiology	23780	APOL2	OMIM:181500
HP:0030178	Abnormality of central nervous system electrophysiology	267012	DAOA	OMIM:181500
HP:0030178	Abnormality of central nervous system electrophysiology	3356	HTR2A	OMIM:181500
HP:0030178	Abnormality of central nervous system electrophysiology	6854	SYN2	OMIM:181500
HP:0030178	Abnormality of central nervous system electrophysiology	1814	DRD3	OMIM:181500
HP:0030178	Abnormality of central nervous system electrophysiology	1312	COMT	OMIM:181500
HP:0030178	Abnormality of central nervous system electrophysiology	4524	MTHFR	OMIM:181500
HP:0030178	Abnormality of central nervous system electrophysiology	27184	DISC2	OMIM:181500
HP:0030178	Abnormality of central nervous system electrophysiology	65078	RTN4R	OMIM:181500
HP:0030178	Abnormality of central nervous system electrophysiology	80832	APOL4	OMIM:181500
HP:0030178	Abnormality of central nervous system electrophysiology	1116	CHI3L1	OMIM:181500
HP:0030178	Abnormality of central nervous system electrophysiology	4952	OCRL	ORPHA:534
HP:0030178	Abnormality of central nervous system electrophysiology	2067	ERCC1	OMIM:610758
HP:0030178	Abnormality of central nervous system electrophysiology	4948	OCA2	ORPHA:98794
HP:0030178	Abnormality of central nervous system electrophysiology	1725	DHPS	OMIM:618480
HP:0030178	Abnormality of central nervous system electrophysiology	3192	HNRNPU	OMIM:617391
HP:0030178	Abnormality of central nervous system electrophysiology	84340	GFM2	ORPHA:565624
HP:0030178	Abnormality of central nervous system electrophysiology	4704	NDUFA9	OMIM:618247
HP:0030178	Abnormality of central nervous system electrophysiology	116150	NUS1	OMIM:617831
HP:0030178	Abnormality of central nervous system electrophysiology	23511	NUP188	OMIM:618804
HP:0030178	Abnormality of central nervous system electrophysiology	79947	DHDDS	OMIM:617836
HP:0030178	Abnormality of central nervous system electrophysiology	201163	FLCN	OMIM:610883
HP:0030178	Abnormality of central nervous system electrophysiology	5604	MAP2K1	ORPHA:1340
HP:0030178	Abnormality of central nervous system electrophysiology	5605	MAP2K2	ORPHA:1340
HP:0030178	Abnormality of central nervous system electrophysiology	673	BRAF	ORPHA:1340
HP:0030178	Abnormality of central nervous system electrophysiology	23389	MED13L	ORPHA:369891
HP:0030178	Abnormality of central nervous system electrophysiology	112476	PRRT2	ORPHA:569
HP:0030178	Abnormality of central nervous system electrophysiology	23258	DENND5A	OMIM:617281
HP:0030178	Abnormality of central nervous system electrophysiology	2257	FGF12	OMIM:617166
HP:0030178	Abnormality of central nervous system electrophysiology	114548	NLRP3	ORPHA:1451
HP:0030178	Abnormality of central nervous system electrophysiology	6304	SATB1	OMIM:619228
HP:0030178	Abnormality of central nervous system electrophysiology	6304	SATB1	OMIM:619229
HP:0030178	Abnormality of central nervous system electrophysiology	6611	SMS	ORPHA:3063
HP:0030178	Abnormality of central nervous system electrophysiology	8943	AP3D1	OMIM:617050
HP:0030178	Abnormality of central nervous system electrophysiology	51241	COX16	OMIM:619355
HP:0030178	Abnormality of central nervous system electrophysiology	57003	CCDC47	OMIM:618268
HP:0030178	Abnormality of central nervous system electrophysiology	6711	SPTBN1	OMIM:619475
HP:0030178	Abnormality of central nervous system electrophysiology	23040	MYT1L	OMIM:616521
HP:0030178	Abnormality of central nervous system electrophysiology	259232	NALCN	ORPHA:371364
HP:0030178	Abnormality of central nervous system electrophysiology	285175	UNC80	ORPHA:371364
HP:0030178	Abnormality of central nervous system electrophysiology	526	ATP6V1B2	ORPHA:79500
HP:0030178	Abnormality of central nervous system electrophysiology	57465	TBC1D24	ORPHA:79500
HP:0030178	Abnormality of central nervous system electrophysiology	7343	UBTF	ORPHA:500180
HP:0030178	Abnormality of central nervous system electrophysiology	151	ADRA2B	ORPHA:86814
HP:0030178	Abnormality of central nervous system electrophysiology	1501	CTNND2	ORPHA:86814
HP:0030178	Abnormality of central nervous system electrophysiology	6900	CNTN2	ORPHA:86814
HP:0030178	Abnormality of central nervous system electrophysiology	8567	MADD	OMIM:619004
HP:0030178	Abnormality of central nervous system electrophysiology	8567	MADD	OMIM:619005
HP:0030178	Abnormality of central nervous system electrophysiology	10319	LAMC3	OMIM:614115
HP:0030178	Abnormality of central nervous system electrophysiology	1806	DPYD	ORPHA:1675
HP:0030178	Abnormality of central nervous system electrophysiology	8450	CUL4B	ORPHA:85293
HP:0030178	Abnormality of central nervous system electrophysiology	5625	PRODH	OMIM:239500
HP:0030178	Abnormality of central nervous system electrophysiology	3516	RBPJ	ORPHA:974
HP:0030178	Abnormality of central nervous system electrophysiology	4851	NOTCH1	ORPHA:974
HP:0030178	Abnormality of central nervous system electrophysiology	57514	ARHGAP31	ORPHA:974
HP:0030178	Abnormality of central nervous system electrophysiology	57572	DOCK6	ORPHA:974
HP:0030178	Abnormality of central nervous system electrophysiology	285203	EOGT	ORPHA:974
HP:0030178	Abnormality of central nervous system electrophysiology	54567	DLL4	ORPHA:974
HP:0030178	Abnormality of central nervous system electrophysiology	617	BCS1L	OMIM:124000
HP:0030178	Abnormality of central nervous system electrophysiology	84628	NTNG2	OMIM:618718
HP:0030178	Abnormality of central nervous system electrophysiology	3756	KCNH1	ORPHA:420561
HP:0030178	Abnormality of central nervous system electrophysiology	3090	HIC1	ORPHA:531
HP:0030178	Abnormality of central nervous system electrophysiology	5048	PAFAH1B1	ORPHA:531
HP:0030178	Abnormality of central nervous system electrophysiology	7531	YWHAE	ORPHA:531
HP:0030178	Abnormality of central nervous system electrophysiology	57502	NLGN4X	OMIM:300495
HP:0030178	Abnormality of central nervous system electrophysiology	84295	PHF6	OMIM:301900
HP:0030178	Abnormality of central nervous system electrophysiology	54802	TRIT1	OMIM:617873
HP:0030178	Abnormality of central nervous system electrophysiology	10479	SLC9A6	ORPHA:85278
HP:0030178	Abnormality of central nervous system electrophysiology	777	CACNA1E	OMIM:618285
HP:0030178	Abnormality of central nervous system electrophysiology	5538	PPT1	OMIM:256730
HP:0030178	Abnormality of central nervous system electrophysiology	8831	SYNGAP1	OMIM:612621
HP:0030178	Abnormality of central nervous system electrophysiology	1968	EIF2S3	ORPHA:85282
HP:0030178	Abnormality of central nervous system electrophysiology	9439	MED23	OMIM:614249
HP:0030178	Abnormality of central nervous system electrophysiology	57731	SPTBN4	OMIM:617519
HP:0030178	Abnormality of central nervous system electrophysiology	4693	NDP	ORPHA:649
HP:0030178	Abnormality of central nervous system electrophysiology	1496	CTNNA2	OMIM:618174
HP:0030178	Abnormality of central nervous system electrophysiology	7305	TYROBP	OMIM:221770
HP:0030178	Abnormality of central nervous system electrophysiology	3778	KCNMA1	OMIM:617643
HP:0030178	Abnormality of central nervous system electrophysiology	79693	YRDC	ORPHA:2065
HP:0030178	Abnormality of central nervous system electrophysiology	51002	TPRKB	ORPHA:2065
HP:0030178	Abnormality of central nervous system electrophysiology	84942	WDR73	ORPHA:2065
HP:0030178	Abnormality of central nervous system electrophysiology	55644	OSGEP	ORPHA:2065
HP:0030178	Abnormality of central nervous system electrophysiology	57122	NUP107	ORPHA:2065
HP:0030178	Abnormality of central nervous system electrophysiology	55746	NUP133	ORPHA:2065
HP:0030178	Abnormality of central nervous system electrophysiology	84520	GON7	ORPHA:2065
HP:0030178	Abnormality of central nervous system electrophysiology	112858	TP53RK	ORPHA:2065
HP:0030178	Abnormality of central nervous system electrophysiology	8270	LAGE3	ORPHA:2065
HP:0030178	Abnormality of central nervous system electrophysiology	57194	ATP10A	ORPHA:411515
HP:0030178	Abnormality of central nervous system electrophysiology	3785	KCNQ2	ORPHA:306
HP:0030178	Abnormality of central nervous system electrophysiology	3786	KCNQ3	ORPHA:306
HP:0030178	Abnormality of central nervous system electrophysiology	60482	SLC5A7	ORPHA:98914
HP:0030178	Abnormality of central nervous system electrophysiology	4649	MYO9A	ORPHA:98914
HP:0030178	Abnormality of central nervous system electrophysiology	1305	COL13A1	ORPHA:98914
HP:0030178	Abnormality of central nervous system electrophysiology	1103	CHAT	ORPHA:98914
HP:0030178	Abnormality of central nervous system electrophysiology	6576	SLC25A1	ORPHA:98914
HP:0030178	Abnormality of central nervous system electrophysiology	6843	VAMP1	ORPHA:98914
HP:0030178	Abnormality of central nervous system electrophysiology	375790	AGRN	ORPHA:98914
HP:0030178	Abnormality of central nervous system electrophysiology	127833	SYT2	ORPHA:98914
HP:0030178	Abnormality of central nervous system electrophysiology	6572	SLC18A3	ORPHA:98914
HP:0030178	Abnormality of central nervous system electrophysiology	6616	SNAP25	ORPHA:98914
HP:0030178	Abnormality of central nervous system electrophysiology	1181	CLCN2	ORPHA:307
HP:0030178	Abnormality of central nervous system electrophysiology	22858	CILK1	ORPHA:307
HP:0030178	Abnormality of central nervous system electrophysiology	8629	JRK	ORPHA:307
HP:0030178	Abnormality of central nervous system electrophysiology	144165	PRICKLE1	ORPHA:308
HP:0030178	Abnormality of central nervous system electrophysiology	950	SCARB2	ORPHA:308
HP:0030178	Abnormality of central nervous system electrophysiology	199857	ALG14	OMIM:619036
HP:0030178	Abnormality of central nervous system electrophysiology	343450	KCNT2	OMIM:617771
HP:0030178	Abnormality of central nervous system electrophysiology	10564	ARFGEF2	OMIM:608097
HP:0030178	Abnormality of central nervous system electrophysiology	2653	GCSH	OMIM:620423
HP:0030178	Abnormality of central nervous system electrophysiology	4076	CAPRIN1	OMIM:620782
HP:0030178	Abnormality of central nervous system electrophysiology	8496	PPFIBP1	OMIM:620024
HP:0030178	Abnormality of central nervous system electrophysiology	2258	FGF13	OMIM:301058
HP:0030178	Abnormality of central nervous system electrophysiology	51112	TRAPPC12	ORPHA:500144
HP:0030178	Abnormality of central nervous system electrophysiology	51112	TRAPPC12	OMIM:617669
HP:0030178	Abnormality of central nervous system electrophysiology	26275	HIBCH	ORPHA:88639
HP:0030178	Abnormality of central nervous system electrophysiology	64801	ARV1	OMIM:617020
HP:0030178	Abnormality of central nervous system electrophysiology	79868	ALG13	OMIM:300884
HP:0030178	Abnormality of central nervous system electrophysiology	79868	ALG13	ORPHA:324422
HP:0030178	Abnormality of central nervous system electrophysiology	51506	UFC1	OMIM:618076
HP:0030178	Abnormality of central nervous system electrophysiology	6487	ST3GAL3	OMIM:615006
HP:0030178	Abnormality of central nervous system electrophysiology	6487	ST3GAL3	ORPHA:3451
HP:0030178	Abnormality of central nervous system electrophysiology	112939	NACC1	ORPHA:500545
HP:0030178	Abnormality of central nervous system electrophysiology	157922	CAMSAP1	OMIM:620316
HP:0030178	Abnormality of central nervous system electrophysiology	55780	ERMARD	ORPHA:75857
HP:0030178	Abnormality of central nervous system electrophysiology	55780	ERMARD	OMIM:615544
HP:0030178	Abnormality of central nervous system electrophysiology	3767	KCNJ11	ORPHA:79134
HP:0030178	Abnormality of central nervous system electrophysiology	3767	KCNJ11	OMIM:618856
HP:0030178	Abnormality of central nervous system electrophysiology	79731	NARS2	ORPHA:79134
HP:0030178	Abnormality of central nervous system electrophysiology	161725	OTUD7A	OMIM:620790
HP:0030178	Abnormality of central nervous system electrophysiology	4763	NF1	OMIM:162200
HP:0030178	Abnormality of central nervous system electrophysiology	2560	GABRB1	OMIM:617153
HP:0030178	Abnormality of central nervous system electrophysiology	535	ATP6V0A1	OMIM:619970
HP:0030178	Abnormality of central nervous system electrophysiology	7965	AIMP2	OMIM:618006
HP:0030178	Abnormality of central nervous system electrophysiology	3054	HCFC1	OMIM:309541
HP:0030178	Abnormality of central nervous system electrophysiology	5805	PTS	ORPHA:13
HP:0030178	Abnormality of central nervous system electrophysiology	1327	COX4I1	OMIM:619060
HP:0030178	Abnormality of central nervous system electrophysiology	25930	PTPN23	OMIM:618890
HP:0030178	Abnormality of central nervous system electrophysiology	23327	NEDD4L	OMIM:617201
HP:0030178	Abnormality of central nervous system electrophysiology	1822	ATN1	OMIM:618494
HP:0030178	Abnormality of central nervous system electrophysiology	132158	GLYCTK	OMIM:220120
HP:0030178	Abnormality of central nervous system electrophysiology	84896	ATAD1	OMIM:618011
HP:0030178	Abnormality of central nervous system electrophysiology	1641	DCX	ORPHA:2148
HP:0030178	Abnormality of central nervous system electrophysiology	284184	NDUFAF8	OMIM:618776
HP:0030178	Abnormality of central nervous system electrophysiology	55361	PI4K2A	OMIM:620732
HP:0030178	Abnormality of central nervous system electrophysiology	26040	SETBP1	OMIM:269150
HP:0030178	Abnormality of central nervous system electrophysiology	26040	SETBP1	ORPHA:798
HP:0030178	Abnormality of central nervous system electrophysiology	149371	EXOC8	OMIM:619076
HP:0030178	Abnormality of central nervous system electrophysiology	55699	IARS2	OMIM:616007
HP:0030178	Abnormality of central nervous system electrophysiology	8452	CUL3	OMIM:619239
HP:0030178	Abnormality of central nervous system electrophysiology	116115	ZNF526	OMIM:619877
HP:0030178	Abnormality of central nervous system electrophysiology	538	ATP7A	OMIM:309400
HP:0030178	Abnormality of central nervous system electrophysiology	85365	ALG2	ORPHA:79326
HP:0030178	Abnormality of central nervous system electrophysiology	85365	ALG2	OMIM:607906
HP:0030178	Abnormality of central nervous system electrophysiology	4247	MGAT2	ORPHA:79329
HP:0030178	Abnormality of central nervous system electrophysiology	728294	D2HGDH	OMIM:600721
HP:0030178	Abnormality of central nervous system electrophysiology	2571	GAD1	OMIM:619124
HP:0030178	Abnormality of central nervous system electrophysiology	60558	GUF1	OMIM:617065
HP:0030178	Abnormality of central nervous system electrophysiology	60558	GUF1	ORPHA:3451
HP:0030178	Abnormality of central nervous system electrophysiology	51124	IER3IP1	OMIM:614231
HP:0030178	Abnormality of central nervous system electrophysiology	26227	PHGDH	OMIM:601815
HP:0030178	Abnormality of central nervous system electrophysiology	7358	UGDH	OMIM:618792
HP:0030178	Abnormality of central nervous system electrophysiology	4190	MDH1	OMIM:618959
HP:0030178	Abnormality of central nervous system electrophysiology	9373	PLAA	ORPHA:521426
HP:0030178	Abnormality of central nervous system electrophysiology	55704	CCDC88A	OMIM:617507
HP:0030178	Abnormality of central nervous system electrophysiology	10297	APC2	OMIM:618677
HP:0030178	Abnormality of central nervous system electrophysiology	9440	MED17	OMIM:613668
HP:0030178	Abnormality of central nervous system electrophysiology	221692	PHACTR1	ORPHA:3451
HP:0030178	Abnormality of central nervous system electrophysiology	221692	PHACTR1	OMIM:618298
HP:0030178	Abnormality of central nervous system electrophysiology	10695	CNPY3	ORPHA:3451
HP:0030178	Abnormality of central nervous system electrophysiology	10695	CNPY3	OMIM:617929
HP:0030178	Abnormality of central nervous system electrophysiology	11152	WDR45	ORPHA:3451
HP:0030178	Abnormality of central nervous system electrophysiology	10681	GNB5	ORPHA:542306
HP:0030178	Abnormality of central nervous system electrophysiology	55739	NAXD	OMIM:618321
HP:0030178	Abnormality of central nervous system electrophysiology	284098	PIGW	OMIM:616025
HP:0030178	Abnormality of central nervous system electrophysiology	440	ASNS	OMIM:615574
HP:0030178	Abnormality of central nervous system electrophysiology	79718	TBL1XR1	OMIM:616944
HP:0030178	Abnormality of central nervous system electrophysiology	51294	PCDH12	OMIM:251280
HP:0030178	Abnormality of central nervous system electrophysiology	64116	SLC39A8	ORPHA:468699
HP:0030178	Abnormality of central nervous system electrophysiology	6509	SLC1A4	ORPHA:447997
HP:0030178	Abnormality of central nervous system electrophysiology	2801	GOLGA2	OMIM:620240
HP:0030178	Abnormality of central nervous system electrophysiology	10195	ALG3	OMIM:601110
HP:0030178	Abnormality of central nervous system electrophysiology	51733	UPB1	OMIM:613161
HP:0030178	Abnormality of central nervous system electrophysiology	7040	TGFB1	OMIM:618213
HP:0030178	Abnormality of central nervous system electrophysiology	55753	OGDHL	OMIM:619701
HP:0030178	Abnormality of central nervous system electrophysiology	90952	ESAM	OMIM:620371
HP:0030178	Abnormality of central nervous system electrophysiology	9750	RIPOR2	OMIM:616515
HP:0030178	Abnormality of central nervous system electrophysiology	3735	KARS1	ORPHA:3240
HP:0030178	Abnormality of central nervous system electrophysiology	9381	OTOF	OMIM:601071
HP:0030178	Abnormality of central nervous system electrophysiology	6663	SOX10	OMIM:609136
HP:0030178	Abnormality of central nervous system electrophysiology	79628	SH3TC2	OMIM:601596
HP:0030178	Abnormality of central nervous system electrophysiology	84668	HYCC1	OMIM:610532
HP:0030178	Abnormality of central nervous system electrophysiology	51501	HIKESHI	OMIM:616881
HP:0030178	Abnormality of central nervous system electrophysiology	10682	EBP	ORPHA:401973
HP:0030178	Abnormality of central nervous system electrophysiology	64802	NMNAT1	OMIM:619260
HP:0030178	Abnormality of central nervous system electrophysiology	1910	EDNRB	OMIM:600501
HP:0030178	Abnormality of central nervous system electrophysiology	81624	DIAPH3	OMIM:609129
HP:0030178	Abnormality of central nervous system electrophysiology	4621	MYH3	OMIM:193700
HP:0030178	Abnormality of central nervous system electrophysiology	4001	LMNB1	ORPHA:99027
HP:0030178	Abnormality of central nervous system electrophysiology	8898	MTMR2	OMIM:601382
HP:0030178	Abnormality of central nervous system electrophysiology	6687	SPG7	OMIM:607259
HP:0030178	Abnormality of central nervous system electrophysiology	5631	PRPS1	ORPHA:1187
HP:0030178	Abnormality of central nervous system electrophysiology	6310	ATXN1	ORPHA:98755
HP:0030178	Abnormality of central nervous system electrophysiology	49855	SCAPER	OMIM:618195
HP:0030178	Abnormality of central nervous system electrophysiology	51109	RDH11	ORPHA:436245
HP:0030178	Abnormality of central nervous system electrophysiology	4724	NDUFS4	OMIM:252010
HP:0030178	Abnormality of central nervous system electrophysiology	1340	COX6B1	OMIM:619051
HP:0030178	Abnormality of central nervous system electrophysiology	9526	MPDU1	ORPHA:79323
HP:0030178	Abnormality of central nervous system electrophysiology	28962	OSTM1	OMIM:259720
HP:0030178	Abnormality of central nervous system electrophysiology	443	ASPA	OMIM:271900
HP:0030178	Abnormality of central nervous system electrophysiology	51604	PIGT	OMIM:615398
HP:0030178	Abnormality of central nervous system electrophysiology	51604	PIGT	ORPHA:369837
HP:0030178	Abnormality of central nervous system electrophysiology	8913	CACNA1G	OMIM:618087
HP:0030178	Abnormality of central nervous system electrophysiology	8218	CLTCL1	ORPHA:453510
HP:0030178	Abnormality of central nervous system electrophysiology	132	ADK	OMIM:614300
HP:0030178	Abnormality of central nervous system electrophysiology	85440	DOCK7	ORPHA:411986
HP:0030178	Abnormality of central nervous system electrophysiology	57468	SLC12A5	ORPHA:293181
HP:0030178	Abnormality of central nervous system electrophysiology	23236	PLCB1	ORPHA:293181
HP:0030178	Abnormality of central nervous system electrophysiology	5277	PIGA	ORPHA:293181
HP:0030178	Abnormality of central nervous system electrophysiology	6709	SPTAN1	OMIM:620540
HP:0030178	Abnormality of central nervous system electrophysiology	6821	SUOX	OMIM:272300
HP:0030178	Abnormality of central nervous system electrophysiology	4615	MYD88	ORPHA:33226
HP:0030178	Abnormality of central nervous system electrophysiology	1468	SLC25A10	OMIM:618972
HP:0030178	Abnormality of central nervous system electrophysiology	79587	CARS2	OMIM:616672
HP:0030178	Abnormality of central nervous system electrophysiology	7280	TUBB2A	OMIM:615763
HP:0030178	Abnormality of central nervous system electrophysiology	10565	ARFGEF1	OMIM:619964
HP:0030178	Abnormality of central nervous system electrophysiology	56052	ALG1	OMIM:608540
HP:0030178	Abnormality of central nervous system electrophysiology	8869	ST3GAL5	OMIM:609056
HP:0030178	Abnormality of central nervous system electrophysiology	3737	KCNA2	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	8120	AP3B2	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	523	ATP6V1A	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	10991	SLC38A3	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	51343	FZR1	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	3747	KCNC2	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	1917	EEF1A2	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	2558	GABRA5	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	2906	GRIN2D	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	1213	CLTC	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	348980	HCN1	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	25977	NECAP1	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	23241	PACS2	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	16	AARS1	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	6334	SCN8A	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	2555	GABRA2	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	55152	DALRD3	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	26999	CYFIP2	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	4915	NTRK2	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	25973	PARS2	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	23097	CDK19	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	5530	PPP3CA	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	22906	TRAK1	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	2566	GABRG2	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	79876	UBA5	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	6328	SCN3A	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	781	CACNA2D1	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	10659	CELF2	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	774	CACNA1B	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	51412	ACTL6B	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	8867	SYNJ1	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	3745	KCNB1	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	22866	CNKSR2	ORPHA:442835
HP:0030178	Abnormality of central nervous system electrophysiology	84992	PIGY	OMIM:616809
HP:0030178	Abnormality of central nervous system electrophysiology	1798	DPAGT1	ORPHA:86309
HP:0030178	Abnormality of central nervous system electrophysiology	11133	KPTN	ORPHA:397612
HP:0030178	Abnormality of central nervous system electrophysiology	283987	HID1	OMIM:619983
HP:0030178	Abnormality of central nervous system electrophysiology	10588	MTHFS	OMIM:618367
HP:0030178	Abnormality of central nervous system electrophysiology	2893	GRIA4	OMIM:617864
HP:0030178	Abnormality of central nervous system electrophysiology	22845	DOLK	ORPHA:91131
HP:0030178	Abnormality of central nervous system electrophysiology	1173	AP2M1	ORPHA:1942
HP:0030178	Abnormality of central nervous system electrophysiology	340533	NEXMIF	ORPHA:1942
HP:0030178	Abnormality of central nervous system electrophysiology	6529	SLC6A1	ORPHA:1942
HP:0030178	Abnormality of central nervous system electrophysiology	501	ALDH7A1	ORPHA:3006
HP:0030178	Abnormality of central nervous system electrophysiology	11212	PLPBP	ORPHA:3006
HP:0030178	Abnormality of central nervous system electrophysiology	8912	CACNA1H	ORPHA:64280
HP:0030178	Abnormality of central nervous system electrophysiology	84720	PIGO	ORPHA:247262
HP:0030178	Abnormality of central nervous system electrophysiology	93210	PGAP3	ORPHA:247262
HP:0030178	Abnormality of central nervous system electrophysiology	27315	PGAP2	ORPHA:247262
HP:0030178	Abnormality of central nervous system electrophysiology	55650	PIGV	ORPHA:247262
HP:0030178	Abnormality of central nervous system electrophysiology	9487	PIGL	ORPHA:247262
HP:0030178	Abnormality of central nervous system electrophysiology	10157	AASS	ORPHA:2203
HP:0030178	Abnormality of central nervous system electrophysiology	785	CACNB4	OMIM:613855
HP:0030178	Abnormality of central nervous system electrophysiology	785	CACNB4	OMIM:607682
HP:0030178	Abnormality of central nervous system electrophysiology	57094	CPA6	OMIM:614417
HP:0030178	Abnormality of central nervous system electrophysiology	112755	STX1B	ORPHA:36387
HP:0030178	Abnormality of central nervous system electrophysiology	84059	ADGRV1	ORPHA:36387
HP:0030178	Abnormality of central nervous system electrophysiology	51422	PRKAG2	OMIM:261740
HP:0030178	Abnormality of central nervous system electrophysiology	94005	PIGS	OMIM:618143
HP:0030178	Abnormality of central nervous system electrophysiology	8818	DPM2	ORPHA:329178
HP:0030178	Abnormality of central nervous system electrophysiology	57176	VARS2	OMIM:615917
HP:0030178	Abnormality of central nervous system electrophysiology	7707	ZNF148	OMIM:617260
HP:0030178	Abnormality of central nervous system electrophysiology	1785	DNM2	OMIM:615368
HP:0030178	Abnormality of central nervous system electrophysiology	55163	PNPO	ORPHA:79096
HP:0030178	Abnormality of central nervous system electrophysiology	275	AMT	OMIM:620398
HP:0030178	Abnormality of central nervous system electrophysiology	1020	CDK5	OMIM:616342
HP:0030178	Abnormality of central nervous system electrophysiology	708	C1QBP	OMIM:617713
HP:0030178	Abnormality of central nervous system electrophysiology	2744	GLS	OMIM:618328
HP:0030178	Abnormality of central nervous system electrophysiology	91137	SLC25A46	OMIM:619303
HP:0030178	Abnormality of central nervous system electrophysiology	18	ABAT	OMIM:613163
HP:0030178	Abnormality of central nervous system electrophysiology	4905	NSF	OMIM:619340
HP:0030178	Abnormality of central nervous system electrophysiology	51117	COQ4	OMIM:616276
HP:0030178	Abnormality of central nervous system electrophysiology	221927	BRAT1	OMIM:614498
HP:0030178	Abnormality of central nervous system electrophysiology	23219	FBXO28	OMIM:619777
HP:0030178	Abnormality of central nervous system electrophysiology	2554	GABRA1	OMIM:615744
HP:0030178	Abnormality of central nervous system electrophysiology	55164	SHQ1	OMIM:619922
HP:0030178	Abnormality of central nervous system electrophysiology	10715	CERS1	OMIM:616230
HP:0030178	Abnormality of central nervous system electrophysiology	26960	NBEA	OMIM:619157
HP:0030178	Abnormality of central nervous system electrophysiology	2892	GRIA3	OMIM:300699
HP:0030178	Abnormality of central nervous system electrophysiology	104	ADARB1	OMIM:618862
HP:0030178	Abnormality of central nervous system electrophysiology	92335	STRADA	ORPHA:500533
HP:0030178	Abnormality of central nervous system electrophysiology	2890	GRIA1	OMIM:619931
HP:0030178	Abnormality of central nervous system electrophysiology	23732	FRRS1L	ORPHA:725
HP:0030178	Abnormality of central nervous system electrophysiology	10295	BCKDK	OMIM:614923
HP:0030178	Abnormality of central nervous system electrophysiology	9570	GOSR2	OMIM:620166
HP:0030178	Abnormality of central nervous system electrophysiology	84081	NSRP1	OMIM:620001
HP:0030178	Abnormality of central nervous system electrophysiology	6335	SCN9A	ORPHA:33069
HP:0030178	Abnormality of central nervous system electrophysiology	57526	PCDH19	ORPHA:33069
HP:0030178	Abnormality of central nervous system electrophysiology	1137	CHRNA4	ORPHA:98784
HP:0030178	Abnormality of central nervous system electrophysiology	1135	CHRNA2	ORPHA:98784
HP:0030178	Abnormality of central nervous system electrophysiology	57010	CABP4	ORPHA:98784
HP:0030178	Abnormality of central nervous system electrophysiology	1141	CHRNB2	ORPHA:98784
HP:0030178	Abnormality of central nervous system electrophysiology	57582	KCNT1	ORPHA:98784
HP:0030178	Abnormality of central nervous system electrophysiology	57582	KCNT1	OMIM:614959
HP:0030178	Abnormality of central nervous system electrophysiology	1392	CRH	ORPHA:98784
HP:0030178	Abnormality of central nervous system electrophysiology	5649	RELN	ORPHA:101046
HP:0030178	Abnormality of central nervous system electrophysiology	9211	LGI1	ORPHA:101046
HP:0030178	Abnormality of central nervous system electrophysiology	6833	ABCC8	OMIM:618857
HP:0030178	Abnormality of central nervous system electrophysiology	10844	TUBGCP2	OMIM:618737
HP:0030178	Abnormality of central nervous system electrophysiology	7407	VARS1	OMIM:617802
HP:0030178	Abnormality of central nervous system electrophysiology	1476	CSTB	OMIM:254800
HP:0030178	Abnormality of central nervous system electrophysiology	4131	MAP1B	OMIM:618918
HP:0030178	Abnormality of central nervous system electrophysiology	154881	KCTD7	ORPHA:263516
HP:0030178	Abnormality of central nervous system electrophysiology	7355	SLC35A2	ORPHA:356961
HP:0030178	Abnormality of central nervous system electrophysiology	54872	PIGG	ORPHA:488635
HP:0030178	Abnormality of central nervous system electrophysiology	54872	PIGG	OMIM:616917
HP:0030178	Abnormality of central nervous system electrophysiology	1183	CLCN4	ORPHA:485350
HP:0030178	Abnormality of central nervous system electrophysiology	9361	LONP1	ORPHA:79243
HP:0030178	Abnormality of central nervous system electrophysiology	5160	PDHA1	ORPHA:79243
HP:0030178	Abnormality of central nervous system electrophysiology	10730	YME1L1	OMIM:617302
HP:0030178	Abnormality of central nervous system electrophysiology	29968	PSAT1	ORPHA:284417
HP:0030178	Abnormality of central nervous system electrophysiology	1605	DAG1	ORPHA:370997
HP:0030178	Abnormality of central nervous system electrophysiology	25814	ATXN10	ORPHA:98761
HP:0030178	Abnormality of central nervous system electrophysiology	2746	GLUD1	ORPHA:35878
HP:0030178	Abnormality of central nervous system electrophysiology	23102	TBC1D2B	OMIM:619323
HP:0030178	Abnormality of central nervous system electrophysiology	3746	KCNC1	OMIM:616187
HP:0030178	Abnormality of central nervous system electrophysiology	440138	ALG11	OMIM:613661
HP:0030178	Abnormality of central nervous system electrophysiology	55367	PIDD1	OMIM:619827
HP:0030178	Abnormality of central nervous system electrophysiology	93627	TBCK	ORPHA:488632
HP:0030178	Abnormality of central nervous system electrophysiology	8659	ALDH4A1	ORPHA:79101
HP:0030178	Abnormality of central nervous system electrophysiology	6812	STXBP1	ORPHA:599373
HP:0030178	Abnormality of central nervous system electrophysiology	5354	PLP1	ORPHA:280219
HP:0030178	Abnormality of central nervous system electrophysiology	54681	P4HTM	OMIM:618493
HP:0030178	Abnormality of central nervous system electrophysiology	10128	LRPPRC	ORPHA:70472
HP:0030178	Abnormality of central nervous system electrophysiology	25978	CHMP2B	ORPHA:275864
HP:0030178	Abnormality of central nervous system electrophysiology	25978	CHMP2B	ORPHA:100070
HP:0030178	Abnormality of central nervous system electrophysiology	5663	PSEN1	ORPHA:275864
HP:0030178	Abnormality of central nervous system electrophysiology	5663	PSEN1	ORPHA:100070
HP:0030178	Abnormality of central nervous system electrophysiology	2896	GRN	ORPHA:275864
HP:0030178	Abnormality of central nervous system electrophysiology	2896	GRN	ORPHA:100070
HP:0030178	Abnormality of central nervous system electrophysiology	54664	TMEM106B	ORPHA:275864
HP:0030178	Abnormality of central nervous system electrophysiology	54664	TMEM106B	ORPHA:100070
HP:0030178	Abnormality of central nervous system electrophysiology	8878	SQSTM1	ORPHA:275864
HP:0030178	Abnormality of central nervous system electrophysiology	4137	MAPT	ORPHA:275864
HP:0030178	Abnormality of central nervous system electrophysiology	4137	MAPT	ORPHA:100070
HP:0030178	Abnormality of central nervous system electrophysiology	7415	VCP	ORPHA:275864
HP:0030178	Abnormality of central nervous system electrophysiology	7415	VCP	ORPHA:100070
HP:0030178	Abnormality of central nervous system electrophysiology	114327	EFHC1	OMIM:254770
HP:0030178	Abnormality of central nervous system electrophysiology	7030	TFE3	OMIM:301066
HP:0030178	Abnormality of central nervous system electrophysiology	9289	ADGRG1	ORPHA:98889
HP:0030178	Abnormality of central nervous system electrophysiology	5297	PI4KA	ORPHA:98889
HP:0030178	Abnormality of central nervous system electrophysiology	23229	ARHGEF9	ORPHA:163985
HP:0030178	Abnormality of central nervous system electrophysiology	10273	STUB1	ORPHA:412057
HP:0030178	Abnormality of central nervous system electrophysiology	26278	SACS	ORPHA:98
HP:0030178	Abnormality of central nervous system electrophysiology	3708	ITPR1	OMIM:117360
HP:0030178	Abnormality of central nervous system electrophysiology	4747	NEFL	ORPHA:99939
HP:0030178	Abnormality of central nervous system electrophysiology	6253	RTN2	ORPHA:100993
HP:0030178	Abnormality of central nervous system electrophysiology	51271	UBAP1	ORPHA:100993
HP:0030178	Abnormality of central nervous system electrophysiology	126129	CPT1C	ORPHA:444099
HP:0030178	Abnormality of central nervous system electrophysiology	3839	KPNA3	ORPHA:171612
HP:0030178	Abnormality of central nervous system electrophysiology	9897	WASHC5	ORPHA:100989
HP:0030178	Abnormality of central nervous system electrophysiology	9197	SLC33A1	ORPHA:171863
HP:0030178	Abnormality of central nervous system electrophysiology	22	ABCB7	OMIM:301310
HP:0030178	Abnormality of central nervous system electrophysiology	2903	GRIN2A	ORPHA:98818
HP:0030178	Abnormality of central nervous system electrophysiology	11342	RNF13	ORPHA:544503
HP:0030178	Abnormality of central nervous system electrophysiology	5290	PIK3CA	ORPHA:99802
HP:0030178	Abnormality of central nervous system electrophysiology	2475	MTOR	ORPHA:99802
HP:0030178	Abnormality of central nervous system electrophysiology	10000	AKT3	ORPHA:99802
HP:0030178	Abnormality of central nervous system electrophysiology	9900	SV2A	OMIM:620772
HP:0030178	Abnormality of central nervous system electrophysiology	8131	NPRL3	ORPHA:98820
HP:0030178	Abnormality of central nervous system electrophysiology	10641	NPRL2	ORPHA:98820
HP:0030178	Abnormality of central nervous system electrophysiology	9681	DEPDC5	ORPHA:98820
HP:0030178	Abnormality of central nervous system electrophysiology	80208	SPG11	ORPHA:2822
HP:0030178	Abnormality of central nervous system electrophysiology	10059	DNM1L	OMIM:610708
HP:0030178	Abnormality of central nervous system electrophysiology	10283	CWC27	ORPHA:166035
HP:0030178	Abnormality of central nervous system electrophysiology	27286	SRPX2	ORPHA:163721
HP:0030178	Abnormality of central nervous system electrophysiology	80036	TRPM3	OMIM:620224
HP:0030178	Abnormality of central nervous system electrophysiology	387787	LIPT2	OMIM:617668
HP:0030178	Abnormality of central nervous system electrophysiology	6134	RPL10	ORPHA:459070
HP:0030178	Abnormality of central nervous system electrophysiology	23067	SETD1B	OMIM:619000
HP:0030178	Abnormality of central nervous system electrophysiology	22880	MORC2	ORPHA:466768
HP:0030178	Abnormality of central nervous system electrophysiology	57679	ALS2	OMIM:205100
HP:0030178	Abnormality of central nervous system electrophysiology	215	ABCD1	ORPHA:139399
HP:0030177	Abnormality of peripheral nervous system electrophysiology	79784	MYH14	ORPHA:397744
HP:0030177	Abnormality of peripheral nervous system electrophysiology	9131	AIFM1	ORPHA:101078
HP:0030177	Abnormality of peripheral nervous system electrophysiology	410	ARSA	ORPHA:309256
HP:0030177	Abnormality of peripheral nervous system electrophysiology	410	ARSA	ORPHA:309271
HP:0030177	Abnormality of peripheral nervous system electrophysiology	410	ARSA	ORPHA:309263
HP:0030177	Abnormality of peripheral nervous system electrophysiology	410	ARSA	OMIM:250100
HP:0030177	Abnormality of peripheral nervous system electrophysiology	7415	VCP	ORPHA:435387
HP:0030177	Abnormality of peripheral nervous system electrophysiology	7415	VCP	ORPHA:329478
HP:0030177	Abnormality of peripheral nervous system electrophysiology	5190	PEX6	OMIM:614863
HP:0030177	Abnormality of peripheral nervous system electrophysiology	9782	MATR3	OMIM:606070
HP:0030177	Abnormality of peripheral nervous system electrophysiology	9782	MATR3	ORPHA:600
HP:0030177	Abnormality of peripheral nervous system electrophysiology	7167	TPI1	ORPHA:868
HP:0030177	Abnormality of peripheral nervous system electrophysiology	10516	FBLN5	OMIM:608895
HP:0030177	Abnormality of peripheral nervous system electrophysiology	6305	SBF1	OMIM:615284
HP:0030177	Abnormality of peripheral nervous system electrophysiology	23114	NFASC	OMIM:618356
HP:0030177	Abnormality of peripheral nervous system electrophysiology	25814	ATXN10	OMIM:603516
HP:0030177	Abnormality of peripheral nervous system electrophysiology	1785	DNM2	OMIM:615368
HP:0030177	Abnormality of peripheral nervous system electrophysiology	56947	MFF	ORPHA:485421
HP:0030177	Abnormality of peripheral nervous system electrophysiology	5165	PDK3	ORPHA:352675
HP:0030177	Abnormality of peripheral nervous system electrophysiology	9896	FIG4	OMIM:612577
HP:0030177	Abnormality of peripheral nervous system electrophysiology	9896	FIG4	OMIM:611228
HP:0030177	Abnormality of peripheral nervous system electrophysiology	1130	LYST	OMIM:214500
HP:0030177	Abnormality of peripheral nervous system electrophysiology	1130	LYST	ORPHA:167
HP:0030177	Abnormality of peripheral nervous system electrophysiology	4758	NEU1	ORPHA:812
HP:0030177	Abnormality of peripheral nervous system electrophysiology	3508	IGHMBP2	OMIM:604320
HP:0030177	Abnormality of peripheral nervous system electrophysiology	540	ATP7B	OMIM:277900
HP:0030177	Abnormality of peripheral nervous system electrophysiology	9516	LITAF	OMIM:601098
HP:0030177	Abnormality of peripheral nervous system electrophysiology	10166	SLC25A15	OMIM:238970
HP:0030177	Abnormality of peripheral nervous system electrophysiology	87178	PNPT1	ORPHA:319514
HP:0030177	Abnormality of peripheral nervous system electrophysiology	87178	PNPT1	OMIM:614932
HP:0030177	Abnormality of peripheral nervous system electrophysiology	219285	SAMD9L	OMIM:159550
HP:0030177	Abnormality of peripheral nervous system electrophysiology	84340	GFM2	ORPHA:565624
HP:0030177	Abnormality of peripheral nervous system electrophysiology	8560	DEGS1	OMIM:618404
HP:0030177	Abnormality of peripheral nervous system electrophysiology	3295	HSD17B4	OMIM:261515
HP:0030177	Abnormality of peripheral nervous system electrophysiology	9639	ARHGEF10	OMIM:608236
HP:0030177	Abnormality of peripheral nervous system electrophysiology	2200	FBN1	ORPHA:969
HP:0030177	Abnormality of peripheral nervous system electrophysiology	4054	LTBP3	ORPHA:969
HP:0030177	Abnormality of peripheral nervous system electrophysiology	54332	GDAP1	ORPHA:101097
HP:0030177	Abnormality of peripheral nervous system electrophysiology	54332	GDAP1	ORPHA:99948
HP:0030177	Abnormality of peripheral nervous system electrophysiology	54332	GDAP1	ORPHA:99944
HP:0030177	Abnormality of peripheral nervous system electrophysiology	65125	WNK1	OMIM:201300
HP:0030177	Abnormality of peripheral nervous system electrophysiology	54463	RETREG1	OMIM:201300
HP:0030177	Abnormality of peripheral nervous system electrophysiology	547	KIF1A	OMIM:201300
HP:0030177	Abnormality of peripheral nervous system electrophysiology	26090	ABHD12	OMIM:612674
HP:0030177	Abnormality of peripheral nervous system electrophysiology	2071	ERCC3	OMIM:610651
HP:0030177	Abnormality of peripheral nervous system electrophysiology	3908	LAMA2	OMIM:618138
HP:0030177	Abnormality of peripheral nervous system electrophysiology	5376	PMP22	ORPHA:90658
HP:0030177	Abnormality of peripheral nervous system electrophysiology	8803	SUCLA2	ORPHA:1933
HP:0030177	Abnormality of peripheral nervous system electrophysiology	9990	SLC12A6	OMIM:218000
HP:0030177	Abnormality of peripheral nervous system electrophysiology	4359	MPZ	ORPHA:101082
HP:0030177	Abnormality of peripheral nervous system electrophysiology	401474	SAMD12	OMIM:601068
HP:0030177	Abnormality of peripheral nervous system electrophysiology	56910	STARD7	OMIM:607876
HP:0030177	Abnormality of peripheral nervous system electrophysiology	10501	SEMA6B	OMIM:618876
HP:0030177	Abnormality of peripheral nervous system electrophysiology	378884	NHLRC1	ORPHA:501
HP:0030177	Abnormality of peripheral nervous system electrophysiology	7957	EPM2A	ORPHA:501
HP:0030177	Abnormality of peripheral nervous system electrophysiology	10299	MARCHF6	OMIM:613608
HP:0030177	Abnormality of peripheral nervous system electrophysiology	55689	YEATS2	OMIM:615127
HP:0030177	Abnormality of peripheral nervous system electrophysiology	285362	SUMF1	ORPHA:585
HP:0030177	Abnormality of peripheral nervous system electrophysiology	4914	NTRK1	ORPHA:642
HP:0030177	Abnormality of peripheral nervous system electrophysiology	5354	PLP1	ORPHA:280234
HP:0030177	Abnormality of peripheral nervous system electrophysiology	10342	TFG	ORPHA:431329
HP:0030177	Abnormality of peripheral nervous system electrophysiology	51324	SPG21	ORPHA:101001
HP:0030177	Abnormality of peripheral nervous system electrophysiology	9150	CTDP1	ORPHA:48431
HP:0030177	Abnormality of peripheral nervous system electrophysiology	65250	CPLANE1	ORPHA:65684
HP:0030177	Abnormality of peripheral nervous system electrophysiology	57562	CEP126	ORPHA:65684
HP:0030177	Abnormality of peripheral nervous system electrophysiology	9342	SNAP29	ORPHA:66631
HP:0030177	Abnormality of peripheral nervous system electrophysiology	1161	ERCC8	ORPHA:90324
HP:0030177	Abnormality of peripheral nervous system electrophysiology	1161	ERCC8	ORPHA:90321
HP:0030177	Abnormality of peripheral nervous system electrophysiology	2074	ERCC6	ORPHA:90324
HP:0030177	Abnormality of peripheral nervous system electrophysiology	2074	ERCC6	ORPHA:90321
HP:0030177	Abnormality of peripheral nervous system electrophysiology	8398	PLA2G6	ORPHA:35069
HP:0030177	Abnormality of peripheral nervous system electrophysiology	100134444	KCNJ18	ORPHA:79102
HP:0030177	Abnormality of peripheral nervous system electrophysiology	2556	GABRA3	ORPHA:79102
HP:0030177	Abnormality of peripheral nervous system electrophysiology	779	CACNA1S	ORPHA:79102
HP:0030177	Abnormality of peripheral nervous system electrophysiology	50846	DHH	ORPHA:168563
HP:0030177	Abnormality of peripheral nervous system electrophysiology	2072	ERCC4	ORPHA:90321
HP:0030177	Abnormality of peripheral nervous system electrophysiology	11284	PNKP	OMIM:605589
HP:0030177	Abnormality of peripheral nervous system electrophysiology	81857	MED25	OMIM:605589
HP:0030177	Abnormality of peripheral nervous system electrophysiology	8506	CNTNAP1	OMIM:618186
HP:0030177	Abnormality of peripheral nervous system electrophysiology	9927	MFN2	OMIM:609260
HP:0030177	Abnormality of peripheral nervous system electrophysiology	9927	MFN2	OMIM:601152
HP:0030177	Abnormality of peripheral nervous system electrophysiology	50717	DCAF8	OMIM:610100
HP:0030177	Abnormality of peripheral nervous system electrophysiology	3315	HSPB1	OMIM:606595
HP:0030177	Abnormality of peripheral nervous system electrophysiology	1959	EGR2	OMIM:607678
HP:0030177	Abnormality of peripheral nervous system electrophysiology	1959	EGR2	OMIM:605253
HP:0030177	Abnormality of peripheral nervous system electrophysiology	1959	EGR2	OMIM:145900
HP:0030177	Abnormality of peripheral nervous system electrophysiology	56704	JPH1	OMIM:607831
HP:0030177	Abnormality of peripheral nervous system electrophysiology	23095	KIF1B	OMIM:118210
HP:0030177	Abnormality of peripheral nervous system electrophysiology	90678	LRSAM1	OMIM:614436
HP:0030177	Abnormality of peripheral nervous system electrophysiology	3710	ITPR3	OMIM:620111
HP:0030177	Abnormality of peripheral nervous system electrophysiology	8565	YARS1	OMIM:608323
HP:0030177	Abnormality of peripheral nervous system electrophysiology	26278	SACS	OMIM:270550
HP:0030177	Abnormality of peripheral nervous system electrophysiology	100996717	NOTCH2NLC	OMIM:603472
HP:0030177	Abnormality of peripheral nervous system electrophysiology	5428	POLG	ORPHA:298
HP:0030177	Abnormality of peripheral nervous system electrophysiology	1890	TYMP	ORPHA:298
HP:0030177	Abnormality of peripheral nervous system electrophysiology	3980	LIG3	ORPHA:298
HP:0030177	Abnormality of peripheral nervous system electrophysiology	50484	RRM2B	ORPHA:298
HP:0030177	Abnormality of peripheral nervous system electrophysiology	23250	ATP11A	OMIM:619851
HP:0030177	Abnormality of peripheral nervous system electrophysiology	23321	TRIM2	OMIM:615490
HP:0030177	Abnormality of peripheral nervous system electrophysiology	57449	PLEKHG5	OMIM:615376
HP:0030177	Abnormality of peripheral nervous system electrophysiology	81545	FBXO38	OMIM:615575
HP:0030177	Abnormality of peripheral nervous system electrophysiology	259232	NALCN	OMIM:615419
HP:0030177	Abnormality of peripheral nervous system electrophysiology	5611	DNAJC3	OMIM:616192
HP:0030177	Abnormality of peripheral nervous system electrophysiology	51651	PTRH2	ORPHA:456312
HP:0030177	Abnormality of peripheral nervous system electrophysiology	84842	HPDL	OMIM:619026
HP:0030177	Abnormality of peripheral nervous system electrophysiology	57716	PRX	OMIM:614895
HP:0030177	Abnormality of peripheral nervous system electrophysiology	57716	PRX	OMIM:145900
HP:0030177	Abnormality of peripheral nervous system electrophysiology	16	AARS1	OMIM:613287
HP:0030177	Abnormality of peripheral nervous system electrophysiology	128637	TBC1D20	OMIM:615663
HP:0030177	Abnormality of peripheral nervous system electrophysiology	55775	TDP1	OMIM:607250
HP:0030177	Abnormality of peripheral nervous system electrophysiology	6342	SCP2	OMIM:613724
HP:0030177	Abnormality of peripheral nervous system electrophysiology	121512	FGD4	OMIM:609311
HP:0030177	Abnormality of peripheral nervous system electrophysiology	55768	NGLY1	OMIM:615273
HP:0030177	Abnormality of peripheral nervous system electrophysiology	91574	MTRFR	ORPHA:320375
HP:0030177	Abnormality of peripheral nervous system electrophysiology	10730	YME1L1	OMIM:617302
HP:0030177	Abnormality of peripheral nervous system electrophysiology	9750	RIPOR2	OMIM:616515
HP:0030177	Abnormality of peripheral nervous system electrophysiology	3735	KARS1	ORPHA:3240
HP:0030177	Abnormality of peripheral nervous system electrophysiology	9381	OTOF	OMIM:601071
HP:0030177	Abnormality of peripheral nervous system electrophysiology	7841	MOGS	ORPHA:79330
HP:0030177	Abnormality of peripheral nervous system electrophysiology	4747	NEFL	ORPHA:101085
HP:0030177	Abnormality of peripheral nervous system electrophysiology	6663	SOX10	OMIM:609136
HP:0030177	Abnormality of peripheral nervous system electrophysiology	57731	SPTBN4	OMIM:617519
HP:0030177	Abnormality of peripheral nervous system electrophysiology	79628	SH3TC2	OMIM:601596
HP:0030177	Abnormality of peripheral nervous system electrophysiology	2581	GALC	ORPHA:206443
HP:0030177	Abnormality of peripheral nervous system electrophysiology	2581	GALC	ORPHA:206448
HP:0030177	Abnormality of peripheral nervous system electrophysiology	2581	GALC	ORPHA:206436
HP:0030177	Abnormality of peripheral nervous system electrophysiology	84668	HYCC1	OMIM:610532
HP:0030177	Abnormality of peripheral nervous system electrophysiology	5660	PSAP	ORPHA:206436
HP:0030177	Abnormality of peripheral nervous system electrophysiology	51501	HIKESHI	OMIM:616881
HP:0030177	Abnormality of peripheral nervous system electrophysiology	10682	EBP	ORPHA:401973
HP:0030177	Abnormality of peripheral nervous system electrophysiology	64802	NMNAT1	OMIM:619260
HP:0030177	Abnormality of peripheral nervous system electrophysiology	1910	EDNRB	OMIM:600501
HP:0030177	Abnormality of peripheral nervous system electrophysiology	10397	NDRG1	OMIM:601455
HP:0030177	Abnormality of peripheral nervous system electrophysiology	81624	DIAPH3	OMIM:609129
HP:0030177	Abnormality of peripheral nervous system electrophysiology	4621	MYH3	OMIM:193700
HP:0030177	Abnormality of peripheral nervous system electrophysiology	57165	GJC2	ORPHA:320401
HP:0030177	Abnormality of peripheral nervous system electrophysiology	1593	CYP27A1	ORPHA:909
HP:0030177	Abnormality of peripheral nervous system electrophysiology	9181	ARHGEF2	OMIM:617523
HP:0030177	Abnormality of peripheral nervous system electrophysiology	4976	OPA1	OMIM:125250
HP:0030177	Abnormality of peripheral nervous system electrophysiology	4001	LMNB1	ORPHA:99027
HP:0030177	Abnormality of peripheral nervous system electrophysiology	8898	MTMR2	OMIM:601382
HP:0030177	Abnormality of peripheral nervous system electrophysiology	7384	UQCRC1	OMIM:619279
HP:0030177	Abnormality of peripheral nervous system electrophysiology	2395	FXN	OMIM:229300
HP:0030177	Abnormality of peripheral nervous system electrophysiology	6652	SORD	OMIM:618912
HP:0030177	Abnormality of peripheral nervous system electrophysiology	22948	CCT5	OMIM:256840
HP:0030177	Abnormality of peripheral nervous system electrophysiology	23230	VPS13A	ORPHA:2388
HP:0030177	Abnormality of peripheral nervous system electrophysiology	8449	DHX16	OMIM:618733
HP:0030177	Abnormality of peripheral nervous system electrophysiology	81790	RNF170	OMIM:608984
HP:0030177	Abnormality of peripheral nervous system electrophysiology	4000	LMNA	ORPHA:98856
HP:0030177	Abnormality of peripheral nervous system electrophysiology	26353	HSPB8	OMIM:608673
HP:0030177	Abnormality of peripheral nervous system electrophysiology	10558	SPTLC1	ORPHA:36386
HP:0030177	Abnormality of peripheral nervous system electrophysiology	25923	ATL3	ORPHA:36386
HP:0030177	Abnormality of peripheral nervous system electrophysiology	9517	SPTLC2	ORPHA:36386
HP:0030177	Abnormality of peripheral nervous system electrophysiology	51062	ATL1	ORPHA:36386
HP:0030177	Abnormality of peripheral nervous system electrophysiology	57465	TBC1D24	OMIM:608105
HP:0030177	Abnormality of peripheral nervous system electrophysiology	57465	TBC1D24	ORPHA:163727
HP:0030177	Abnormality of peripheral nervous system electrophysiology	59341	TRPV4	OMIM:606071
HP:0030177	Abnormality of peripheral nervous system electrophysiology	5981	RFC1	OMIM:614575
HP:0030177	Abnormality of peripheral nervous system electrophysiology	81846	SBF2	ORPHA:99956
HP:0030177	Abnormality of peripheral nervous system electrophysiology	4358	MPV17	OMIM:618400
HP:0030177	Abnormality of peripheral nervous system electrophysiology	3098	HK1	ORPHA:99953
HP:0030177	Abnormality of peripheral nervous system electrophysiology	1678	TIMM8A	ORPHA:52368
HP:0030177	Abnormality of peripheral nervous system electrophysiology	6687	SPG7	OMIM:607259
HP:0030177	Abnormality of peripheral nervous system electrophysiology	5631	PRPS1	ORPHA:1187
HP:0030177	Abnormality of peripheral nervous system electrophysiology	6310	ATXN1	ORPHA:98755
HP:0030177	Abnormality of peripheral nervous system electrophysiology	127833	SYT2	OMIM:616040
HP:0030177	Abnormality of peripheral nervous system electrophysiology	3708	ITPR1	OMIM:117360
HP:0030177	Abnormality of peripheral nervous system electrophysiology	2318	FLNC	ORPHA:171445
HP:0030177	Abnormality of peripheral nervous system electrophysiology	215	ABCD1	ORPHA:139399
HP:0030177	Abnormality of peripheral nervous system electrophysiology	10049	DNAJB6	OMIM:603511
HP:0030177	Abnormality of peripheral nervous system electrophysiology	23064	SETX	OMIM:602433
HP:0030177	Abnormality of peripheral nervous system electrophysiology	7879	RAB7A	OMIM:600882
HP:0030177	Abnormality of peripheral nervous system electrophysiology	10280	SIGMAR1	OMIM:605726
HP:0030177	Abnormality of peripheral nervous system electrophysiology	11117	EMILIN1	OMIM:620080
HP:0030177	Abnormality of peripheral nervous system electrophysiology	6843	VAMP1	OMIM:618323
HP:0030177	Abnormality of peripheral nervous system electrophysiology	5375	PMP2	OMIM:618279
HP:0030177	Abnormality of peripheral nervous system electrophysiology	7317	UBA1	OMIM:301830
HP:0030177	Abnormality of peripheral nervous system electrophysiology	26580	BSCL2	OMIM:619112
HP:0030177	Abnormality of peripheral nervous system electrophysiology	6709	SPTAN1	OMIM:620528
HP:0030177	Abnormality of peripheral nervous system electrophysiology	57863	CADM3	OMIM:619519
HP:0030177	Abnormality of peripheral nervous system electrophysiology	93627	TBCK	OMIM:616900
HP:0030177	Abnormality of peripheral nervous system electrophysiology	3425	IDUA	ORPHA:93474
HP:0030177	Abnormality of peripheral nervous system electrophysiology	3425	IDUA	ORPHA:93473
HP:0030177	Abnormality of peripheral nervous system electrophysiology	3425	IDUA	ORPHA:93476
HP:0030177	Abnormality of peripheral nervous system electrophysiology	10935	PRDX3	OMIM:619862
HP:0030177	Abnormality of peripheral nervous system electrophysiology	2705	GJB1	ORPHA:101075
HP:0030177	Abnormality of peripheral nervous system electrophysiology	6335	SCN9A	OMIM:243000
HP:0030177	Abnormality of peripheral nervous system electrophysiology	10743	RAI1	OMIM:182290
HP:0030177	Abnormality of peripheral nervous system electrophysiology	1291	COL6A1	OMIM:158810
HP:0030177	Abnormality of peripheral nervous system electrophysiology	84466	MEGF10	OMIM:614399
HP:0030177	Abnormality of peripheral nervous system electrophysiology	60482	SLC5A7	OMIM:158580
HP:0030177	Abnormality of peripheral nervous system electrophysiology	2617	GARS1	ORPHA:139536
HP:0030177	Abnormality of peripheral nervous system electrophysiology	65055	REEP1	ORPHA:139536
HP:0030177	Abnormality of peripheral nervous system electrophysiology	400916	CHCHD10	ORPHA:276435
HP:0030177	Abnormality of peripheral nervous system electrophysiology	28982	FLVCR1	ORPHA:88628
HP:0030177	Abnormality of peripheral nervous system electrophysiology	22880	MORC2	ORPHA:466768
HP:0030177	Abnormality of peripheral nervous system electrophysiology	57679	ALS2	OMIM:205100
HP:0030177	Abnormality of peripheral nervous system electrophysiology	7274	TTPA	OMIM:277460
HP:0030139	Excessive bleeding after a venipuncture	388552	BLOC1S3	OMIM:614077
HP:0030138	Excessive bleeding from superficial cuts	3674	ITGA2B	OMIM:273800
HP:0030138	Excessive bleeding from superficial cuts	7171	TPM4	OMIM:620486
HP:0030138	Excessive bleeding from superficial cuts	388552	BLOC1S3	OMIM:614077
HP:0030138	Excessive bleeding from superficial cuts	2147	F2	ORPHA:325
HP:0030138	Excessive bleeding from superficial cuts	2048	EPHB2	OMIM:618462
HP:0030137	Prolonged bleeding following circumcision	2165	F13B	ORPHA:331
HP:0030137	Prolonged bleeding following circumcision	2162	F13A1	ORPHA:331
HP:0030137	Prolonged bleeding following circumcision	2157	F8	ORPHA:169802
HP:0030137	Prolonged bleeding following circumcision	3674	ITGA2B	ORPHA:849
HP:0030137	Prolonged bleeding following circumcision	3690	ITGB3	ORPHA:849
HP:0030137	Prolonged bleeding following circumcision	2266	FGG	OMIM:202400
HP:0030137	Prolonged bleeding following circumcision	2243	FGA	OMIM:202400
HP:0030137	Prolonged bleeding following circumcision	2244	FGB	OMIM:202400
HP:0030137	Prolonged bleeding following circumcision	9939	RBM8A	OMIM:274000
HP:0030137	Prolonged bleeding following circumcision	2147	F2	ORPHA:325
HP:0030137	Prolonged bleeding following circumcision	3998	LMAN1	ORPHA:35909
HP:0030137	Prolonged bleeding following circumcision	90411	MCFD2	ORPHA:35909
HP:0030137	Prolonged bleeding following circumcision	2153	F5	ORPHA:326
HP:0030142	Abnormal bowel sounds	1235	CCR6	ORPHA:220393
HP:0030142	Abnormal bowel sounds	1490	CCN2	ORPHA:220393
HP:0030142	Abnormal bowel sounds	3663	IRF5	ORPHA:220393
HP:0030142	Abnormal bowel sounds	857	CAV1	ORPHA:220393
HP:0030142	Abnormal bowel sounds	3123	HLA-DRB1	ORPHA:220393
HP:0030142	Abnormal bowel sounds	6523	SLC5A1	OMIM:606824
HP:0030142	Abnormal bowel sounds	6523	SLC5A1	ORPHA:35710
HP:0030142	Abnormal bowel sounds	1890	TYMP	OMIM:603041
HP:0030142	Abnormal bowel sounds	5428	POLG	OMIM:603041
HP:0030142	Abnormal bowel sounds	546	ATRX	ORPHA:100075
HP:0030142	Abnormal bowel sounds	6392	SDHD	ORPHA:100093
HP:0030141	Abnormality of the posterior hairline	64132	XYLT2	OMIM:605822
HP:0030141	Abnormality of the posterior hairline	64132	XYLT2	ORPHA:85194
HP:0030141	Abnormality of the posterior hairline	3479	IGF1	ORPHA:73272
HP:0030141	Abnormality of the posterior hairline	324	APC	ORPHA:261584
HP:0030141	Abnormality of the posterior hairline	1947	EFNB1	ORPHA:1520
HP:0030141	Abnormality of the posterior hairline	1947	EFNB1	OMIM:304110
HP:0030141	Abnormality of the posterior hairline	161742	SPRED1	OMIM:611431
HP:0030141	Abnormality of the posterior hairline	673	BRAF	OMIM:115150
HP:0030141	Abnormality of the posterior hairline	673	BRAF	ORPHA:1340
HP:0030141	Abnormality of the posterior hairline	673	BRAF	OMIM:613707
HP:0030141	Abnormality of the posterior hairline	673	BRAF	OMIM:613706
HP:0030141	Abnormality of the posterior hairline	673	BRAF	OMIM:163950
HP:0030141	Abnormality of the posterior hairline	10973	ASCC3	OMIM:620700
HP:0030141	Abnormality of the posterior hairline	79650	USB1	OMIM:604173
HP:0030141	Abnormality of the posterior hairline	54361	WNT4	ORPHA:2578
HP:0030141	Abnormality of the posterior hairline	6928	HNF1B	ORPHA:2578
HP:0030141	Abnormality of the posterior hairline	10847	SRCAP	OMIM:136140
HP:0030141	Abnormality of the posterior hairline	3020	H3-3A	OMIM:619720
HP:0030141	Abnormality of the posterior hairline	23030	KDM4B	OMIM:619320
HP:0030141	Abnormality of the posterior hairline	5184	PEPD	OMIM:170100
HP:0030141	Abnormality of the posterior hairline	4893	NRAS	OMIM:613224
HP:0030141	Abnormality of the posterior hairline	4893	NRAS	ORPHA:648
HP:0030141	Abnormality of the posterior hairline	65082	VPS33A	OMIM:617303
HP:0030141	Abnormality of the posterior hairline	80055	PGAP1	OMIM:615802
HP:0030141	Abnormality of the posterior hairline	24142	NAA80	OMIM:620830
HP:0030141	Abnormality of the posterior hairline	25782	RAB3GAP2	OMIM:212720
HP:0030141	Abnormality of the posterior hairline	25782	RAB3GAP2	ORPHA:1387
HP:0030141	Abnormality of the posterior hairline	3764	KCNJ8	ORPHA:1517
HP:0030141	Abnormality of the posterior hairline	10060	ABCC9	ORPHA:1517
HP:0030141	Abnormality of the posterior hairline	4297	KMT2A	OMIM:605130
HP:0030141	Abnormality of the posterior hairline	4763	NF1	OMIM:601321
HP:0030141	Abnormality of the posterior hairline	55777	MBD5	OMIM:156200
HP:0030141	Abnormality of the posterior hairline	165	AEBP1	OMIM:618000
HP:0030141	Abnormality of the posterior hairline	10265	IRX5	OMIM:611174
HP:0030141	Abnormality of the posterior hairline	5604	MAP2K1	ORPHA:1340
HP:0030141	Abnormality of the posterior hairline	5604	MAP2K1	OMIM:163950
HP:0030141	Abnormality of the posterior hairline	5605	MAP2K2	ORPHA:1340
HP:0030141	Abnormality of the posterior hairline	3845	KRAS	ORPHA:1340
HP:0030141	Abnormality of the posterior hairline	3845	KRAS	OMIM:609942
HP:0030141	Abnormality of the posterior hairline	3845	KRAS	ORPHA:648
HP:0030141	Abnormality of the posterior hairline	1000	CDH2	OMIM:618929
HP:0030141	Abnormality of the posterior hairline	7020	TFAP2A	OMIM:113620
HP:0030141	Abnormality of the posterior hairline	7319	UBE2A	OMIM:300860
HP:0030141	Abnormality of the posterior hairline	7319	UBE2A	ORPHA:163956
HP:0030141	Abnormality of the posterior hairline	10815	CPLX1	ORPHA:280
HP:0030141	Abnormality of the posterior hairline	10815	CPLX1	OMIM:194190
HP:0030141	Abnormality of the posterior hairline	54872	PIGG	ORPHA:280
HP:0030141	Abnormality of the posterior hairline	7469	NELFA	ORPHA:280
HP:0030141	Abnormality of the posterior hairline	1487	CTBP1	ORPHA:280
HP:0030141	Abnormality of the posterior hairline	1487	CTBP1	OMIM:194190
HP:0030141	Abnormality of the posterior hairline	3954	LETM1	ORPHA:280
HP:0030141	Abnormality of the posterior hairline	3954	LETM1	OMIM:194190
HP:0030141	Abnormality of the posterior hairline	7468	NSD2	ORPHA:280
HP:0030141	Abnormality of the posterior hairline	7468	NSD2	OMIM:194190
HP:0030141	Abnormality of the posterior hairline	8036	SHOC2	ORPHA:2701
HP:0030141	Abnormality of the posterior hairline	5500	PPP1CB	ORPHA:2701
HP:0030141	Abnormality of the posterior hairline	5500	PPP1CB	OMIM:617506
HP:0030141	Abnormality of the posterior hairline	4854	NOTCH3	ORPHA:2789
HP:0030141	Abnormality of the posterior hairline	51729	WBP11	OMIM:619227
HP:0030141	Abnormality of the posterior hairline	200734	SPRED2	OMIM:619745
HP:0030141	Abnormality of the posterior hairline	200734	SPRED2	ORPHA:648
HP:0030141	Abnormality of the posterior hairline	6602	SMARCD1	OMIM:618779
HP:0030141	Abnormality of the posterior hairline	53834	FGFRL1	OMIM:194190
HP:0030141	Abnormality of the posterior hairline	6234	RPS28	OMIM:606164
HP:0030141	Abnormality of the posterior hairline	60	ACTB	OMIM:243310
HP:0030141	Abnormality of the posterior hairline	60	ACTB	ORPHA:2995
HP:0030141	Abnormality of the posterior hairline	57167	SALL4	ORPHA:233
HP:0030141	Abnormality of the posterior hairline	9935	MAFB	ORPHA:233
HP:0030141	Abnormality of the posterior hairline	1123	CHN1	ORPHA:233
HP:0030141	Abnormality of the posterior hairline	23476	BRD4	ORPHA:199
HP:0030141	Abnormality of the posterior hairline	9126	SMC3	ORPHA:199
HP:0030141	Abnormality of the posterior hairline	8243	SMC1A	ORPHA:199
HP:0030141	Abnormality of the posterior hairline	6878	TAF6	ORPHA:199
HP:0030141	Abnormality of the posterior hairline	25836	NIPBL	ORPHA:199
HP:0030141	Abnormality of the posterior hairline	25836	NIPBL	OMIM:122470
HP:0030141	Abnormality of the posterior hairline	55869	HDAC8	ORPHA:199
HP:0030141	Abnormality of the posterior hairline	5885	RAD21	ORPHA:199
HP:0030141	Abnormality of the posterior hairline	392255	GDF6	OMIM:118100
HP:0030141	Abnormality of the posterior hairline	392255	GDF6	ORPHA:2345
HP:0030141	Abnormality of the posterior hairline	2033	EP300	OMIM:180849
HP:0030141	Abnormality of the posterior hairline	1387	CREBBP	OMIM:180849
HP:0030141	Abnormality of the posterior hairline	29957	SLC25A24	OMIM:612289
HP:0030141	Abnormality of the posterior hairline	79005	SCNM1	OMIM:620107
HP:0030141	Abnormality of the posterior hairline	4784	NFIX	ORPHA:420179
HP:0030141	Abnormality of the posterior hairline	54499	TMCO1	OMIM:213980
HP:0030141	Abnormality of the posterior hairline	54499	TMCO1	ORPHA:1394
HP:0030141	Abnormality of the posterior hairline	5293	PIK3CD	ORPHA:221139
HP:0030141	Abnormality of the posterior hairline	90417	KNSTRN	ORPHA:221139
HP:0030141	Abnormality of the posterior hairline	79796	ALG9	ORPHA:79328
HP:0030141	Abnormality of the posterior hairline	8567	MADD	OMIM:619004
HP:0030141	Abnormality of the posterior hairline	374879	ZNF699	OMIM:619488
HP:0030141	Abnormality of the posterior hairline	5594	MAPK1	OMIM:619087
HP:0030141	Abnormality of the posterior hairline	28952	CCDC22	OMIM:300963
HP:0030141	Abnormality of the posterior hairline	4849	CNOT3	OMIM:618672
HP:0030141	Abnormality of the posterior hairline	226	ALDOA	OMIM:611881
HP:0030141	Abnormality of the posterior hairline	4222	MEOX1	OMIM:214300
HP:0030141	Abnormality of the posterior hairline	4222	MEOX1	ORPHA:2345
HP:0030141	Abnormality of the posterior hairline	80267	EDEM3	OMIM:619493
HP:0030141	Abnormality of the posterior hairline	9897	WASHC5	OMIM:220210
HP:0030141	Abnormality of the posterior hairline	10020	GNE	OMIM:269921
HP:0030141	Abnormality of the posterior hairline	5286	PIK3C2A	OMIM:618440
HP:0030141	Abnormality of the posterior hairline	738	VPS51	OMIM:618606
HP:0030141	Abnormality of the posterior hairline	22930	RAB3GAP1	ORPHA:1387
HP:0030141	Abnormality of the posterior hairline	23133	PHF8	ORPHA:85287
HP:0030141	Abnormality of the posterior hairline	23133	PHF8	OMIM:300263
HP:0030141	Abnormality of the posterior hairline	54187	NANS	OMIM:610442
HP:0030141	Abnormality of the posterior hairline	84700	MYO18B	OMIM:616549
HP:0030141	Abnormality of the posterior hairline	22800	RRAS2	ORPHA:648
HP:0030141	Abnormality of the posterior hairline	867	CBL	ORPHA:648
HP:0030141	Abnormality of the posterior hairline	867	CBL	OMIM:613563
HP:0030141	Abnormality of the posterior hairline	8216	LZTR1	ORPHA:648
HP:0030141	Abnormality of the posterior hairline	8216	LZTR1	OMIM:605275
HP:0030141	Abnormality of the posterior hairline	6016	RIT1	ORPHA:648
HP:0030141	Abnormality of the posterior hairline	6237	RRAS	ORPHA:648
HP:0030141	Abnormality of the posterior hairline	5894	RAF1	ORPHA:648
HP:0030141	Abnormality of the posterior hairline	22808	MRAS	ORPHA:648
HP:0030141	Abnormality of the posterior hairline	6654	SOS1	ORPHA:648
HP:0030141	Abnormality of the posterior hairline	6655	SOS2	ORPHA:648
HP:0030141	Abnormality of the posterior hairline	5781	PTPN11	ORPHA:648
HP:0030141	Abnormality of the posterior hairline	5781	PTPN11	OMIM:163950
HP:0030141	Abnormality of the posterior hairline	5922	RASA2	ORPHA:648
HP:0030141	Abnormality of the posterior hairline	4621	MYH3	ORPHA:2990
HP:0030141	Abnormality of the posterior hairline	1146	CHRNG	ORPHA:2990
HP:0030141	Abnormality of the posterior hairline	5468	PPARG	ORPHA:528
HP:0030141	Abnormality of the posterior hairline	10555	AGPAT2	ORPHA:528
HP:0030141	Abnormality of the posterior hairline	284119	CAVIN1	ORPHA:528
HP:0030141	Abnormality of the posterior hairline	26580	BSCL2	ORPHA:528
HP:0030141	Abnormality of the posterior hairline	2353	FOS	ORPHA:528
HP:0030141	Abnormality of the posterior hairline	857	CAV1	ORPHA:528
HP:0030141	Abnormality of the posterior hairline	6913	TBX15	ORPHA:93333
HP:0030141	Abnormality of the posterior hairline	79087	ALG12	ORPHA:79324
HP:0030141	Abnormality of the posterior hairline	71	ACTG1	ORPHA:2995
HP:0030141	Abnormality of the posterior hairline	9469	CHST3	OMIM:245600
HP:0030141	Abnormality of the posterior hairline	26229	B3GAT3	OMIM:245600
HP:0030141	Abnormality of the posterior hairline	6595	SMARCA2	OMIM:601358
HP:0030141	Abnormality of the posterior hairline	29123	ANKRD11	OMIM:148050
HP:0030141	Abnormality of the posterior hairline	8621	CDK13	OMIM:617360
HP:0030141	Abnormality of the posterior hairline	7543	ZFX	OMIM:301118
HP:0030141	Abnormality of the posterior hairline	9181	ARHGEF2	OMIM:617523
HP:0030141	Abnormality of the posterior hairline	9573	GDF3	ORPHA:2345
HP:0030141	Abnormality of the posterior hairline	6736	SRY	ORPHA:1772
HP:0030141	Abnormality of the posterior hairline	27152	INTU	OMIM:617925
HP:0030141	Abnormality of the posterior hairline	10664	CTCF	OMIM:615502
HP:0030141	Abnormality of the posterior hairline	8085	KMT2D	OMIM:147920
HP:0030141	Abnormality of the posterior hairline	7403	KDM6A	OMIM:147920
HP:0030141	Abnormality of the posterior hairline	10075	HUWE1	OMIM:309590
HP:0030140	Oral cavity bleeding	2165	F13B	ORPHA:331
HP:0030140	Oral cavity bleeding	2162	F13A1	ORPHA:331
HP:0030140	Oral cavity bleeding	9493	KIF23	ORPHA:98870
HP:0030140	Oral cavity bleeding	29127	RACGAP1	ORPHA:98870
HP:0030140	Oral cavity bleeding	6774	STAT3	ORPHA:520
HP:0030140	Oral cavity bleeding	5371	PML	ORPHA:520
HP:0030140	Oral cavity bleeding	5914	RARA	ORPHA:520
HP:0030140	Oral cavity bleeding	359948	IRF2BP2	ORPHA:520
HP:0030140	Oral cavity bleeding	81608	FIP1L1	ORPHA:520
HP:0030140	Oral cavity bleeding	4869	NPM1	ORPHA:520
HP:0030140	Oral cavity bleeding	5573	PRKAR1A	ORPHA:520
HP:0030140	Oral cavity bleeding	54880	BCOR	ORPHA:520
HP:0030140	Oral cavity bleeding	64859	NABP1	ORPHA:520
HP:0030140	Oral cavity bleeding	6777	STAT5B	ORPHA:520
HP:0030140	Oral cavity bleeding	4926	NUMA1	ORPHA:520
HP:0030140	Oral cavity bleeding	7704	ZBTB16	ORPHA:520
HP:0030140	Oral cavity bleeding	79718	TBL1XR1	ORPHA:520
HP:0030140	Oral cavity bleeding	2157	F8	ORPHA:169802
HP:0030140	Oral cavity bleeding	2159	F10	ORPHA:328
HP:0030140	Oral cavity bleeding	2147	F2	ORPHA:325
HP:0030140	Oral cavity bleeding	2153	F5	ORPHA:326
HP:0030149	Cardiogenic shock	6123	RPL3L	OMIM:619371
HP:0030149	Cardiogenic shock	546	ATRX	ORPHA:100075
HP:0030149	Cardiogenic shock	4633	MYL2	OMIM:619424
HP:0030149	Cardiogenic shock	442721	LMOD2	OMIM:619897
HP:0030149	Cardiogenic shock	368	ABCC6	OMIM:614473
HP:0030149	Cardiogenic shock	6389	SDHA	OMIM:613642
HP:0030149	Cardiogenic shock	5698	PSMB9	OMIM:620796
HP:0030149	Cardiogenic shock	8260	NAA10	ORPHA:276432
HP:0030148	Heart murmur	9997	SCO2	OMIM:604377
HP:0030148	Heart murmur	6711	SPTBN1	OMIM:619475
HP:0030148	Heart murmur	23394	ADNP	OMIM:615873
HP:0030148	Heart murmur	5828	PEX2	OMIM:614866
HP:0030148	Heart murmur	171019	ADAMTS19	OMIM:620067
HP:0030148	Heart murmur	2200	FBN1	ORPHA:284979
HP:0030148	Heart murmur	10283	CWC27	ORPHA:166035
HP:0030148	Heart murmur	5932	RBBP8	OMIM:606744
HP:0030148	Heart murmur	2548	GAA	ORPHA:308552
HP:0030148	Heart murmur	29998	BICRA	OMIM:619325
HP:0030148	Heart murmur	9968	MED12	ORPHA:2728
HP:0030148	Heart murmur	5573	PRKAR1A	ORPHA:615
HP:0030148	Heart murmur	6392	SDHD	ORPHA:100093
HP:0030148	Heart murmur	4851	NOTCH1	ORPHA:402075
HP:0030148	Heart murmur	1482	NKX2-5	ORPHA:402075
HP:0030148	Heart murmur	140628	GATA5	ORPHA:402075
HP:0030148	Heart murmur	4091	SMAD6	ORPHA:402075
HP:0030148	Heart murmur	79158	GNPTAB	OMIM:252500
HP:0030148	Heart murmur	3423	IDS	ORPHA:217093
HP:0030148	Heart murmur	3423	IDS	ORPHA:217085
HP:0030148	Heart murmur	3949	LDLR	ORPHA:391665
HP:0030148	Heart murmur	255738	PCSK9	ORPHA:391665
HP:0030148	Heart murmur	26119	LDLRAP1	ORPHA:391665
HP:0030148	Heart murmur	338	APOB	ORPHA:391665
HP:0030148	Heart murmur	64240	ABCG5	ORPHA:391665
HP:0030148	Heart murmur	64241	ABCG8	ORPHA:391665
HP:0030148	Heart murmur	25836	NIPBL	OMIM:122470
HP:0030148	Heart murmur	291	SLC25A4	OMIM:615418
HP:0030148	Heart murmur	9896	FIG4	OMIM:216340
HP:0030148	Heart murmur	1656	DDX6	OMIM:618653
HP:0030148	Heart murmur	23152	CIC	OMIM:617600
HP:0030148	Heart murmur	7092	TLL1	ORPHA:99103
HP:0030148	Heart murmur	7092	TLL1	ORPHA:99106
HP:0030148	Heart murmur	57057	TBX20	ORPHA:99103
HP:0030148	Heart murmur	4624	MYH6	ORPHA:99103
HP:0030148	Heart murmur	70	ACTC1	ORPHA:99103
HP:0030148	Heart murmur	10370	CITED2	ORPHA:99103
HP:0030148	Heart murmur	10370	CITED2	ORPHA:99105
HP:0030148	Heart murmur	2626	GATA4	ORPHA:99103
HP:0030148	Heart murmur	2627	GATA6	ORPHA:99103
HP:0030148	Heart murmur	2006	ELN	ORPHA:3193
HP:0030148	Heart murmur	54914	FOCAD	OMIM:619991
HP:0030148	Heart murmur	7291	TWIST1	OMIM:123100
HP:0030148	Heart murmur	54916	TMEM260	OMIM:617478
HP:0030148	Heart murmur	4625	MYH7	ORPHA:1880
HP:0030147	Truncal titubation	1200	TPP1	OMIM:609270
HP:0030147	Truncal titubation	54974	THG1L	OMIM:618800
HP:0030147	Truncal titubation	3708	ITPR1	OMIM:117360
HP:0030147	Truncal titubation	84668	HYCC1	OMIM:610532
HP:0030147	Truncal titubation	28982	FLVCR1	ORPHA:88628
HP:0030147	Truncal titubation	91452	ACBD5	OMIM:618863
HP:0030147	Truncal titubation	80704	SLC19A3	OMIM:607483
HP:0030147	Truncal titubation	221927	BRAT1	OMIM:618056
HP:0030146	Abnormal liver parenchyma morphology	5373	PMM2	ORPHA:79318
HP:0030146	Abnormal liver parenchyma morphology	27031	NPHP3	ORPHA:3032
HP:0030146	Abnormal liver parenchyma morphology	51651	PTRH2	ORPHA:456312
HP:0030146	Abnormal liver parenchyma morphology	56244	BTNL2	ORPHA:797
HP:0030146	Abnormal liver parenchyma morphology	3123	HLA-DRB1	ORPHA:797
HP:0030146	Abnormal liver parenchyma morphology	3716	JAK1	OMIM:618999
HP:0030146	Abnormal liver parenchyma morphology	54914	FOCAD	OMIM:619991
HP:0030146	Abnormal liver parenchyma morphology	10165	SLC25A13	OMIM:603471
HP:0030146	Abnormal liver parenchyma morphology	26276	VPS33B	OMIM:208085
HP:0030146	Abnormal liver parenchyma morphology	90952	ESAM	OMIM:620371
HP:0030146	Abnormal liver parenchyma morphology	168667	BMPER	OMIM:608022
HP:0030146	Abnormal liver parenchyma morphology	1497	CTNS	OMIM:219800
HP:0030145	Lack of bowel sounds	546	ATRX	ORPHA:100075
HP:0030145	Lack of bowel sounds	6392	SDHD	ORPHA:100093
HP:0030182	Tetraplegia/tetraparesis	84065	TMEM222	OMIM:619470
HP:0030182	Tetraplegia/tetraparesis	5354	PLP1	ORPHA:280224
HP:0030182	Tetraplegia/tetraparesis	5354	PLP1	ORPHA:280219
HP:0030182	Tetraplegia/tetraparesis	3763	KCNJ6	ORPHA:435628
HP:0030182	Tetraplegia/tetraparesis	3763	KCNJ6	OMIM:614098
HP:0030182	Tetraplegia/tetraparesis	11340	EXOSC8	OMIM:616081
HP:0030182	Tetraplegia/tetraparesis	8243	SMC1A	OMIM:301044
HP:0030182	Tetraplegia/tetraparesis	10617	STAMBP	OMIM:614261
HP:0030182	Tetraplegia/tetraparesis	51399	TRAPPC4	OMIM:618741
HP:0030182	Tetraplegia/tetraparesis	84879	MFSD2A	OMIM:616486
HP:0030182	Tetraplegia/tetraparesis	6659	SOX4	OMIM:618506
HP:0030182	Tetraplegia/tetraparesis	4337	MOCS1	OMIM:252150
HP:0030182	Tetraplegia/tetraparesis	7355	SLC35A2	ORPHA:356961
HP:0030182	Tetraplegia/tetraparesis	84334	COA8	ORPHA:436271
HP:0030182	Tetraplegia/tetraparesis	84334	COA8	OMIM:619061
HP:0030182	Tetraplegia/tetraparesis	90624	LYRM7	OMIM:615838
HP:0030182	Tetraplegia/tetraparesis	6571	SLC18A2	ORPHA:352649
HP:0030182	Tetraplegia/tetraparesis	11160	ERLIN2	ORPHA:247604
HP:0030182	Tetraplegia/tetraparesis	5660	PSAP	OMIM:249900
HP:0030182	Tetraplegia/tetraparesis	100147744	RNU7-1	OMIM:619487
HP:0030182	Tetraplegia/tetraparesis	60558	GUF1	OMIM:617065
HP:0030182	Tetraplegia/tetraparesis	6647	SOD1	OMIM:618598
HP:0030182	Tetraplegia/tetraparesis	51601	LIPT1	OMIM:616299
HP:0030182	Tetraplegia/tetraparesis	549	AUH	ORPHA:67046
HP:0030182	Tetraplegia/tetraparesis	6905	TBCE	ORPHA:496756
HP:0030182	Tetraplegia/tetraparesis	387787	LIPT2	OMIM:617668
HP:0030182	Tetraplegia/tetraparesis	473	RERE	OMIM:616975
HP:0030182	Tetraplegia/tetraparesis	4010	LMX1B	ORPHA:495818
HP:0030182	Tetraplegia/tetraparesis	6812	STXBP1	ORPHA:495818
HP:0030182	Tetraplegia/tetraparesis	10157	AASS	ORPHA:2203
HP:0030182	Tetraplegia/tetraparesis	79152	FA2H	ORPHA:171629
HP:0030182	Tetraplegia/tetraparesis	79152	FA2H	OMIM:612319
HP:0030182	Tetraplegia/tetraparesis	6621	SNAPC4	OMIM:620515
HP:0030182	Tetraplegia/tetraparesis	79944	L2HGDH	OMIM:236792
HP:0030182	Tetraplegia/tetraparesis	79944	L2HGDH	ORPHA:79314
HP:0030182	Tetraplegia/tetraparesis	2192	FBLN1	ORPHA:404451
HP:0030182	Tetraplegia/tetraparesis	284403	WDR62	OMIM:604317
HP:0030182	Tetraplegia/tetraparesis	51204	TACO1	OMIM:619052
HP:0030182	Tetraplegia/tetraparesis	2937	GSS	OMIM:266130
HP:0030182	Tetraplegia/tetraparesis	65055	REEP1	ORPHA:101011
HP:0030182	Tetraplegia/tetraparesis	348	APOE	OMIM:607822
HP:0030182	Tetraplegia/tetraparesis	5663	PSEN1	OMIM:607822
HP:0030182	Tetraplegia/tetraparesis	7143	TNR	OMIM:619653
HP:0030182	Tetraplegia/tetraparesis	3899	AFF3	OMIM:619297
HP:0030182	Tetraplegia/tetraparesis	215	ABCD1	ORPHA:139396
HP:0030182	Tetraplegia/tetraparesis	6389	SDHA	ORPHA:3208
HP:0030182	Tetraplegia/tetraparesis	6390	SDHB	ORPHA:3208
HP:0030182	Tetraplegia/tetraparesis	6392	SDHD	ORPHA:3208
HP:0030182	Tetraplegia/tetraparesis	644096	SDHAF1	ORPHA:3208
HP:0030182	Tetraplegia/tetraparesis	29960	MRM2	OMIM:618567
HP:0030182	Tetraplegia/tetraparesis	8398	PLA2G6	ORPHA:35069
HP:0030182	Tetraplegia/tetraparesis	10195	ALG3	ORPHA:79321
HP:0030182	Tetraplegia/tetraparesis	10195	ALG3	OMIM:601110
HP:0030182	Tetraplegia/tetraparesis	124454	EARS2	OMIM:614924
HP:0030182	Tetraplegia/tetraparesis	29968	PSAT1	ORPHA:284417
HP:0030182	Tetraplegia/tetraparesis	27247	NFU1	OMIM:605711
HP:0030182	Tetraplegia/tetraparesis	1968	EIF2S3	OMIM:300148
HP:0030182	Tetraplegia/tetraparesis	58497	PRUNE1	OMIM:617481
HP:0030182	Tetraplegia/tetraparesis	58497	PRUNE1	ORPHA:544469
HP:0030182	Tetraplegia/tetraparesis	84188	FAR1	ORPHA:438178
HP:0030182	Tetraplegia/tetraparesis	84188	FAR1	OMIM:616154
HP:0030182	Tetraplegia/tetraparesis	221692	PHACTR1	OMIM:618298
HP:0030182	Tetraplegia/tetraparesis	523	ATP6V1A	OMIM:618012
HP:0030182	Tetraplegia/tetraparesis	3785	KCNQ2	OMIM:613720
HP:0030182	Tetraplegia/tetraparesis	1974	EIF4A2	OMIM:620455
HP:0030182	Tetraplegia/tetraparesis	56978	PRDM8	ORPHA:324290
HP:0030182	Tetraplegia/tetraparesis	54808	DYM	ORPHA:239
HP:0030182	Tetraplegia/tetraparesis	2760	GM2A	OMIM:272750
HP:0030182	Tetraplegia/tetraparesis	90952	ESAM	OMIM:620371
HP:0030182	Tetraplegia/tetraparesis	3028	HSD17B10	ORPHA:391428
HP:0030182	Tetraplegia/tetraparesis	9131	AIFM1	OMIM:300232
HP:0030182	Tetraplegia/tetraparesis	3094	HINT1	ORPHA:324442
HP:0030182	Tetraplegia/tetraparesis	4750	NEK1	OMIM:617892
HP:0030182	Tetraplegia/tetraparesis	51728	POLR3K	OMIM:619310
HP:0030182	Tetraplegia/tetraparesis	10564	ARFGEF2	OMIM:608097
HP:0030182	Tetraplegia/tetraparesis	4860	PNP	OMIM:613179
HP:0030182	Tetraplegia/tetraparesis	4038	LRP4	OMIM:614305
HP:0030182	Tetraplegia/tetraparesis	7360	UGP2	OMIM:618744
HP:0030182	Tetraplegia/tetraparesis	79903	NAA60	OMIM:620786
HP:0030182	Tetraplegia/tetraparesis	7415	VCP	OMIM:167320
HP:0030182	Tetraplegia/tetraparesis	7415	VCP	ORPHA:275872
HP:0030182	Tetraplegia/tetraparesis	7415	VCP	OMIM:613954
HP:0030182	Tetraplegia/tetraparesis	773	CACNA1A	ORPHA:2131
HP:0030182	Tetraplegia/tetraparesis	6507	SLC1A3	ORPHA:2131
HP:0030182	Tetraplegia/tetraparesis	477	ATP1A2	ORPHA:2131
HP:0030182	Tetraplegia/tetraparesis	478	ATP1A3	ORPHA:2131
HP:0030182	Tetraplegia/tetraparesis	1282	COL4A1	OMIM:175780
HP:0030182	Tetraplegia/tetraparesis	5428	POLG	OMIM:203700
HP:0030182	Tetraplegia/tetraparesis	2521	FUS	ORPHA:275872
HP:0030182	Tetraplegia/tetraparesis	8878	SQSTM1	ORPHA:275872
HP:0030182	Tetraplegia/tetraparesis	23435	TARDBP	ORPHA:275872
HP:0030182	Tetraplegia/tetraparesis	29110	TBK1	ORPHA:275872
HP:0030182	Tetraplegia/tetraparesis	400916	CHCHD10	ORPHA:275872
HP:0030182	Tetraplegia/tetraparesis	80704	SLC19A3	OMIM:607483
HP:0030182	Tetraplegia/tetraparesis	80704	SLC19A3	ORPHA:263410
HP:0030182	Tetraplegia/tetraparesis	203228	C9orf72	OMIM:105550
HP:0030182	Tetraplegia/tetraparesis	8050	PDHX	ORPHA:255182
HP:0030182	Tetraplegia/tetraparesis	26580	BSCL2	ORPHA:363400
HP:0030182	Tetraplegia/tetraparesis	26580	BSCL2	OMIM:615924
HP:0030182	Tetraplegia/tetraparesis	2571	GAD1	OMIM:619124
HP:0030182	Tetraplegia/tetraparesis	128240	NAXE	OMIM:617186
HP:0030182	Tetraplegia/tetraparesis	79587	CARS2	ORPHA:477774
HP:0030182	Tetraplegia/tetraparesis	79587	CARS2	OMIM:616672
HP:0030182	Tetraplegia/tetraparesis	4722	NDUFS3	OMIM:618230
HP:0030182	Tetraplegia/tetraparesis	23287	AGTPBP1	OMIM:618276
HP:0030182	Tetraplegia/tetraparesis	347733	TUBB2B	OMIM:610031
HP:0030182	Tetraplegia/tetraparesis	6506	SLC1A2	OMIM:617105
HP:0030182	Tetraplegia/tetraparesis	64135	IFIH1	OMIM:615846
HP:0030182	Tetraplegia/tetraparesis	2581	GALC	ORPHA:206448
HP:0030182	Tetraplegia/tetraparesis	4508	MT-ATP6	ORPHA:225154
HP:0030182	Tetraplegia/tetraparesis	23636	NUP62	ORPHA:225154
HP:0030182	Tetraplegia/tetraparesis	53371	NUP54	ORPHA:225154
HP:0030182	Tetraplegia/tetraparesis	103	ADAR	ORPHA:225154
HP:0030182	Tetraplegia/tetraparesis	7345	UCHL1	OMIM:615491
HP:0030182	Tetraplegia/tetraparesis	340533	NEXMIF	ORPHA:85277
HP:0030182	Tetraplegia/tetraparesis	1757	SARDH	ORPHA:3129
HP:0030182	Tetraplegia/tetraparesis	55679	LIMS2	OMIM:616827
HP:0030182	Tetraplegia/tetraparesis	64802	NMNAT1	OMIM:619260
HP:0030182	Tetraplegia/tetraparesis	2632	GBE1	OMIM:263570
HP:0030182	Tetraplegia/tetraparesis	1468	SLC25A10	OMIM:618972
HP:0030182	Tetraplegia/tetraparesis	8792	TNFRSF11A	OMIM:602080
HP:0030182	Tetraplegia/tetraparesis	5498	PPOX	ORPHA:79473
HP:0030182	Tetraplegia/tetraparesis	2697	GJA1	OMIM:164200
HP:0030182	Tetraplegia/tetraparesis	4001	LMNB1	ORPHA:99027
HP:0030182	Tetraplegia/tetraparesis	760	CA2	ORPHA:2785
HP:0030182	Tetraplegia/tetraparesis	6904	TBCD	ORPHA:496641
HP:0030182	Tetraplegia/tetraparesis	4702	NDUFA8	OMIM:619272
HP:0030182	Tetraplegia/tetraparesis	10134	BCAP31	OMIM:300475
HP:0030182	Tetraplegia/tetraparesis	10134	BCAP31	ORPHA:369939
HP:0030182	Tetraplegia/tetraparesis	5832	ALDH18A1	OMIM:616586
HP:0030182	Tetraplegia/tetraparesis	5832	ALDH18A1	ORPHA:447760
HP:0030182	Tetraplegia/tetraparesis	11284	PNKP	OMIM:616267
HP:0030182	Tetraplegia/tetraparesis	4509	MT-ATP8	ORPHA:254913
HP:0030182	Tetraplegia/tetraparesis	514	ATP5F1E	ORPHA:254913
HP:0030182	Tetraplegia/tetraparesis	513	ATP5F1D	ORPHA:254913
HP:0030182	Tetraplegia/tetraparesis	498	ATP5F1A	ORPHA:254913
HP:0030182	Tetraplegia/tetraparesis	84833	ATP5MK	ORPHA:254913
HP:0030182	Tetraplegia/tetraparesis	91647	ATPAF2	ORPHA:254913
HP:0030182	Tetraplegia/tetraparesis	57679	ALS2	ORPHA:293168
HP:0030182	Tetraplegia/tetraparesis	57679	ALS2	OMIM:607225
HP:0030182	Tetraplegia/tetraparesis	5631	PRPS1	ORPHA:1187
HP:0030182	Tetraplegia/tetraparesis	5631	PRPS1	OMIM:301835
HP:0030182	Tetraplegia/tetraparesis	2260	FGFR1	ORPHA:2396
HP:0030182	Tetraplegia/tetraparesis	3845	KRAS	ORPHA:2396
HP:0030182	Tetraplegia/tetraparesis	5048	PAFAH1B1	ORPHA:95232
HP:0030182	Tetraplegia/tetraparesis	22845	DOLK	OMIM:610768
HP:0030182	Tetraplegia/tetraparesis	100134444	KCNJ18	ORPHA:79102
HP:0030182	Tetraplegia/tetraparesis	2556	GABRA3	ORPHA:79102
HP:0030182	Tetraplegia/tetraparesis	779	CACNA1S	ORPHA:79102
HP:0030182	Tetraplegia/tetraparesis	701	BUB1B	OMIM:257300
HP:0030182	Tetraplegia/tetraparesis	5903	RANBP2	OMIM:608033
HP:0030182	Tetraplegia/tetraparesis	5551	PRF1	OMIM:603553
HP:0030182	Tetraplegia/tetraparesis	56246	MRAP	ORPHA:361
HP:0030182	Tetraplegia/tetraparesis	6770	STAR	ORPHA:361
HP:0030182	Tetraplegia/tetraparesis	4158	MC2R	ORPHA:361
HP:0030182	Tetraplegia/tetraparesis	23530	NNT	ORPHA:361
HP:0030182	Tetraplegia/tetraparesis	10587	TXNRD2	ORPHA:361
HP:0030182	Tetraplegia/tetraparesis	54828	BCAS3	OMIM:619641
HP:0030182	Tetraplegia/tetraparesis	374354	NHLRC2	OMIM:618278
HP:0030182	Tetraplegia/tetraparesis	170302	ARX	OMIM:300004
HP:0030182	Tetraplegia/tetraparesis	170302	ARX	ORPHA:2508
HP:0030182	Tetraplegia/tetraparesis	5277	PIGA	OMIM:300868
HP:0030182	Tetraplegia/tetraparesis	133686	NADK2	OMIM:616034
HP:0030182	Tetraplegia/tetraparesis	51693	TRAPPC2L	OMIM:618331
HP:0030182	Tetraplegia/tetraparesis	1806	DPYD	OMIM:274270
HP:0030182	Tetraplegia/tetraparesis	10342	TFG	OMIM:604484
HP:0030182	Tetraplegia/tetraparesis	57582	KCNT1	OMIM:614959
HP:0030182	Tetraplegia/tetraparesis	78987	CRELD1	OMIM:620771
HP:0030182	Tetraplegia/tetraparesis	410	ARSA	OMIM:250100
HP:0030182	Tetraplegia/tetraparesis	85465	SELENOI	ORPHA:506353
HP:0030183	Impaired visually enhanced vestibulo-ocular reflex	2395	FXN	ORPHA:95
HP:0030143	Hyperactive bowel sounds	6523	SLC5A1	OMIM:606824
HP:0030143	Hyperactive bowel sounds	6523	SLC5A1	ORPHA:35710
HP:0030143	Hyperactive bowel sounds	1890	TYMP	OMIM:603041
HP:0030143	Hyperactive bowel sounds	5428	POLG	OMIM:603041
HP:0030185	Isometric tremor	6711	SPTBN1	OMIM:619475
HP:0030186	Kinetic tremor	10749	KIF1C	ORPHA:397946
HP:0030186	Kinetic tremor	773	CACNA1A	OMIM:183086
HP:0030186	Kinetic tremor	773	CACNA1A	ORPHA:98758
HP:0030186	Kinetic tremor	55703	POLR3B	OMIM:614381
HP:0030186	Kinetic tremor	9524	TECR	OMIM:614020
HP:0030186	Kinetic tremor	124997	WDR81	OMIM:610185
HP:0030186	Kinetic tremor	3145	HMBS	OMIM:620704
HP:0030186	Kinetic tremor	1161	ERCC8	ORPHA:90324
HP:0030186	Kinetic tremor	2074	ERCC6	ORPHA:90324
HP:0030186	Kinetic tremor	775	CACNA1C	OMIM:620029
HP:0030186	Kinetic tremor	5428	POLG	OMIM:258450
HP:0030186	Kinetic tremor	23600	AMACR	OMIM:614307
HP:0030186	Kinetic tremor	5457	POU4F1	ORPHA:314647
HP:0030186	Kinetic tremor	5457	POU4F1	OMIM:619352
HP:0030186	Kinetic tremor	23261	CAMTA1	ORPHA:314647
HP:0030186	Kinetic tremor	144165	PRICKLE1	ORPHA:308
HP:0030186	Kinetic tremor	1476	CSTB	ORPHA:308
HP:0030186	Kinetic tremor	950	SCARB2	ORPHA:308
HP:0030186	Kinetic tremor	950	SCARB2	OMIM:254900
HP:0030186	Kinetic tremor	85300	ATCAY	ORPHA:94122
HP:0030186	Kinetic tremor	85300	ATCAY	OMIM:601238
HP:0030186	Kinetic tremor	3708	ITPR1	ORPHA:208513
HP:0030186	Kinetic tremor	3708	ITPR1	OMIM:117360
HP:0030186	Kinetic tremor	3708	ITPR1	OMIM:606658
HP:0030186	Kinetic tremor	6712	SPTBN2	ORPHA:352403
HP:0030186	Kinetic tremor	6712	SPTBN2	OMIM:600224
HP:0030186	Kinetic tremor	6712	SPTBN2	OMIM:615386
HP:0030186	Kinetic tremor	57165	GJC2	OMIM:608804
HP:0030186	Kinetic tremor	57165	GJC2	OMIM:613206
HP:0030186	Kinetic tremor	221496	LEMD2	OMIM:619322
HP:0030186	Kinetic tremor	440193	CCDC88C	OMIM:616053
HP:0030186	Kinetic tremor	440193	CCDC88C	ORPHA:423275
HP:0030186	Kinetic tremor	23114	NFASC	OMIM:618356
HP:0030186	Kinetic tremor	51506	UFC1	OMIM:618076
HP:0030186	Kinetic tremor	5917	RARS1	ORPHA:438114
HP:0030186	Kinetic tremor	5917	RARS1	OMIM:616140
HP:0030186	Kinetic tremor	472	ATM	OMIM:208900
HP:0030186	Kinetic tremor	10501	SEMA6B	OMIM:618876
HP:0030186	Kinetic tremor	3781	KCNN2	OMIM:619725
HP:0030186	Kinetic tremor	10908	PNPLA6	OMIM:275400
HP:0030186	Kinetic tremor	10908	PNPLA6	OMIM:215470
HP:0030186	Kinetic tremor	7175	TPR	OMIM:620393
HP:0030186	Kinetic tremor	343641	TGM6	OMIM:613908
HP:0030186	Kinetic tremor	343641	TGM6	ORPHA:276193
HP:0030186	Kinetic tremor	410	ARSA	ORPHA:309271
HP:0030186	Kinetic tremor	410	ARSA	ORPHA:309263
HP:0030186	Kinetic tremor	5660	PSAP	ORPHA:309271
HP:0030186	Kinetic tremor	5660	PSAP	ORPHA:309263
HP:0030186	Kinetic tremor	5660	PSAP	OMIM:610539
HP:0030186	Kinetic tremor	7345	UCHL1	OMIM:615491
HP:0030186	Kinetic tremor	7345	UCHL1	OMIM:620221
HP:0030186	Kinetic tremor	3766	KCNJ10	OMIM:612780
HP:0030186	Kinetic tremor	2058	EPRS1	OMIM:617951
HP:0030186	Kinetic tremor	7436	VLDLR	OMIM:224050
HP:0030186	Kinetic tremor	267010	RNU12	OMIM:620208
HP:0030186	Kinetic tremor	267010	RNU12	ORPHA:512260
HP:0030186	Kinetic tremor	91137	SLC25A46	OMIM:616505
HP:0030186	Kinetic tremor	7080	NKX2-1	ORPHA:209905
HP:0030186	Kinetic tremor	2332	FMR1	ORPHA:93256
HP:0030186	Kinetic tremor	2332	FMR1	OMIM:300623
HP:0030186	Kinetic tremor	7276	TTR	OMIM:105210
HP:0030186	Kinetic tremor	22	ABCB7	OMIM:301310
HP:0030186	Kinetic tremor	26278	SACS	ORPHA:98
HP:0030186	Kinetic tremor	9445	ITM2B	OMIM:117300
HP:0030186	Kinetic tremor	54968	TMEM70	OMIM:614052
HP:0030186	Kinetic tremor	54664	TMEM106B	OMIM:617964
HP:0030186	Kinetic tremor	26090	ABHD12	OMIM:612674
HP:0030186	Kinetic tremor	2705	GJB1	ORPHA:1175
HP:0030186	Kinetic tremor	84668	HYCC1	OMIM:610532
HP:0030186	Kinetic tremor	27010	TPK1	OMIM:614458
HP:0030186	Kinetic tremor	492	ATP2B3	ORPHA:314978
HP:0030186	Kinetic tremor	492	ATP2B3	OMIM:302500
HP:0030186	Kinetic tremor	2395	FXN	ORPHA:95
HP:0030186	Kinetic tremor	6908	TBP	OMIM:607136
HP:0030186	Kinetic tremor	9256	TSPOAP1	OMIM:620453
HP:0030186	Kinetic tremor	10528	NOP56	ORPHA:276198
HP:0030186	Kinetic tremor	5373	PMM2	OMIM:212065
HP:0030186	Kinetic tremor	50801	KCNK4	OMIM:618381
HP:0030186	Kinetic tremor	56006	SMG9	OMIM:619995
HP:0030186	Kinetic tremor	9150	CTDP1	ORPHA:48431
HP:0030186	Kinetic tremor	6711	SPTBN1	OMIM:619475
HP:0030186	Kinetic tremor	55280	CWF19L1	OMIM:616127
HP:0030186	Kinetic tremor	55280	CWF19L1	ORPHA:453521
HP:0030186	Kinetic tremor	4361	MRE11	ORPHA:251347
HP:0030186	Kinetic tremor	4983	OPHN1	ORPHA:137831
HP:0030186	Kinetic tremor	54499	TMCO1	OMIM:213980
HP:0030186	Kinetic tremor	11128	POLR3A	OMIM:264090
HP:0030186	Kinetic tremor	11128	POLR3A	ORPHA:447896
HP:0030186	Kinetic tremor	5293	PIK3CD	ORPHA:221139
HP:0030186	Kinetic tremor	90417	KNSTRN	ORPHA:221139
HP:0030186	Kinetic tremor	5521	PPP2R2B	ORPHA:98762
HP:0030186	Kinetic tremor	5728	PTEN	OMIM:158350
HP:0030186	Kinetic tremor	54870	QRICH1	OMIM:617982
HP:0030186	Kinetic tremor	5192	PEX10	OMIM:614871
HP:0030186	Kinetic tremor	81562	LMAN2L	OMIM:617863
HP:0030186	Kinetic tremor	3295	HSD17B4	OMIM:233400
HP:0030186	Kinetic tremor	6785	ELOVL4	OMIM:133190
HP:0030186	Kinetic tremor	10667	FARS2	ORPHA:466722
HP:0030186	Kinetic tremor	55129	ANO10	ORPHA:284289
HP:0030186	Kinetic tremor	55129	ANO10	OMIM:613728
HP:0030186	Kinetic tremor	5981	RFC1	ORPHA:504476
HP:0030186	Kinetic tremor	4841	NONO	ORPHA:466791
HP:0030186	Kinetic tremor	2937	GSS	OMIM:266130
HP:0030186	Kinetic tremor	5354	PLP1	OMIM:312080
HP:0030186	Kinetic tremor	9725	TMEM63A	OMIM:618688
HP:0030186	Kinetic tremor	404672	GTF2H5	ORPHA:33364
HP:0030186	Kinetic tremor	833	CARS1	ORPHA:33364
HP:0030186	Kinetic tremor	2068	ERCC2	ORPHA:33364
HP:0030186	Kinetic tremor	7737	RNF113A	ORPHA:33364
HP:0030186	Kinetic tremor	136647	MPLKIP	ORPHA:33364
HP:0030186	Kinetic tremor	6897	TARS1	ORPHA:33364
HP:0030186	Kinetic tremor	16	AARS1	ORPHA:33364
HP:0030186	Kinetic tremor	2071	ERCC3	ORPHA:33364
HP:0030186	Kinetic tremor	2961	GTF2E2	ORPHA:33364
HP:0030186	Kinetic tremor	200403	VWA3B	OMIM:616948
HP:0030186	Kinetic tremor	57410	SCYL1	ORPHA:466794
HP:0030186	Kinetic tremor	54936	ADPRS	OMIM:618170
HP:0030186	Kinetic tremor	25793	FBXO7	ORPHA:171695
HP:0030186	Kinetic tremor	6622	SNCA	ORPHA:171695
HP:0030186	Kinetic tremor	5290	PIK3CA	OMIM:615108
HP:0030186	Kinetic tremor	207	AKT1	OMIM:615109
HP:0030186	Kinetic tremor	339453	TMEM240	OMIM:607454
HP:0030186	Kinetic tremor	6342	SCP2	OMIM:613724
HP:0030186	Kinetic tremor	8398	PLA2G6	OMIM:610217
HP:0030186	Kinetic tremor	4001	LMNB1	ORPHA:99027
HP:0030186	Kinetic tremor	5297	PI4KA	OMIM:619708
HP:0030186	Kinetic tremor	25814	ATXN10	ORPHA:98761
HP:0030186	Kinetic tremor	2898	GRIK2	OMIM:611092
HP:0030186	Kinetic tremor	4128	MAOA	OMIM:300615
HP:0030186	Kinetic tremor	10939	AFG3L2	ORPHA:101109
HP:0030186	Kinetic tremor	26011	TENM4	OMIM:616736
HP:0030186	Kinetic tremor	63929	XPNPEP3	OMIM:613159
HP:0030186	Kinetic tremor	100996717	NOTCH2NLC	OMIM:618866
HP:0030186	Kinetic tremor	6311	ATXN2	ORPHA:98756
HP:0030186	Kinetic tremor	84919	PPP1R15B	OMIM:616817
HP:0030187	Titubation	16	AARS1	OMIM:619691
HP:0030187	Titubation	3735	KARS1	ORPHA:3240
HP:0030187	Titubation	7345	UCHL1	OMIM:615491
HP:0030187	Titubation	84504	NKX6-2	ORPHA:527497
HP:0030187	Titubation	84504	NKX6-2	OMIM:617560
HP:0030187	Titubation	6711	SPTBN1	OMIM:619475
HP:0030187	Titubation	57679	ALS2	OMIM:205100
HP:0030187	Titubation	57679	ALS2	ORPHA:300605
HP:0030187	Titubation	267010	RNU12	OMIM:620208
HP:0030187	Titubation	9725	TMEM63A	OMIM:618688
HP:0030187	Titubation	57165	GJC2	OMIM:608804
HP:0030187	Titubation	7274	TTPA	ORPHA:96
HP:0030187	Titubation	2521	FUS	ORPHA:300605
HP:0030187	Titubation	80208	SPG11	ORPHA:300605
HP:0030187	Titubation	10280	SIGMAR1	ORPHA:300605
HP:0030187	Titubation	10558	SPTLC1	ORPHA:300605
HP:0030187	Titubation	26275	HIBCH	ORPHA:88639
HP:0030187	Titubation	26275	HIBCH	OMIM:250620
HP:0030187	Titubation	5277	PIGA	OMIM:300868
HP:0030187	Titubation	3329	HSPD1	OMIM:612233
HP:0030187	Titubation	23230	VPS13A	ORPHA:2388
HP:0030187	Titubation	5610	EIF2AK2	OMIM:618877
HP:0030187	Titubation	284217	LAMA1	ORPHA:370022
HP:0030187	Titubation	25885	POLR1A	OMIM:620675
HP:0030187	Titubation	4001	LMNB1	ORPHA:99027
HP:0030187	Titubation	5297	PI4KA	OMIM:619708
HP:0030187	Titubation	1200	TPP1	OMIM:609270
HP:0030187	Titubation	54974	THG1L	OMIM:618800
HP:0030187	Titubation	3708	ITPR1	OMIM:117360
HP:0030187	Titubation	84668	HYCC1	OMIM:610532
HP:0030187	Titubation	28982	FLVCR1	ORPHA:88628
HP:0030187	Titubation	91452	ACBD5	OMIM:618863
HP:0030187	Titubation	80704	SLC19A3	OMIM:607483
HP:0030187	Titubation	221927	BRAT1	OMIM:618056
HP:0030187	Titubation	3475	IFRD1	ORPHA:98771
HP:0030187	Titubation	4099	MAG	ORPHA:459056
HP:0030187	Titubation	10749	KIF1C	ORPHA:397946
HP:0030187	Titubation	5354	PLP1	ORPHA:280210
HP:0030187	Titubation	5354	PLP1	ORPHA:280219
HP:0030187	Titubation	10531	PITRM1	OMIM:619405
HP:0030187	Titubation	3748	KCNC3	ORPHA:98768
HP:0030188	Tremor by anatomical site	25792	CIZ1	ORPHA:420492
HP:0030188	Tremor by anatomical site	3475	IFRD1	ORPHA:98771
HP:0030188	Tremor by anatomical site	8913	CACNA1G	ORPHA:458803
HP:0030188	Tremor by anatomical site	63982	ANO3	OMIM:615034
HP:0030188	Tremor by anatomical site	10273	STUB1	ORPHA:412057
HP:0030188	Tremor by anatomical site	23533	PIK3R5	ORPHA:64753
HP:0030188	Tremor by anatomical site	23064	SETX	ORPHA:64753
HP:0030188	Tremor by anatomical site	23064	SETX	OMIM:606002
HP:0030188	Tremor by anatomical site	57704	GBA2	ORPHA:352641
HP:0030188	Tremor by anatomical site	57704	GBA2	OMIM:614409
HP:0030188	Tremor by anatomical site	57704	GBA2	ORPHA:320391
HP:0030188	Tremor by anatomical site	100996717	NOTCH2NLC	OMIM:618866
HP:0030188	Tremor by anatomical site	1786	DNMT1	ORPHA:314404
HP:0030188	Tremor by anatomical site	5190	PEX6	ORPHA:95433
HP:0030188	Tremor by anatomical site	5354	PLP1	ORPHA:280219
HP:0030188	Tremor by anatomical site	10939	AFG3L2	ORPHA:101109
HP:0030188	Tremor by anatomical site	79628	SH3TC2	ORPHA:99949
HP:0030188	Tremor by anatomical site	9731	CEP104	OMIM:619988
HP:0030188	Tremor by anatomical site	3781	KCNN2	OMIM:619724
HP:0030188	Tremor by anatomical site	81603	TRIM8	OMIM:619428
HP:0030188	Tremor by anatomical site	6342	SCP2	OMIM:613724
HP:0030188	Tremor by anatomical site	4884	NPTX1	OMIM:620158
HP:0030188	Tremor by anatomical site	4747	NEFL	ORPHA:101085
HP:0030188	Tremor by anatomical site	10528	NOP56	ORPHA:276198
HP:0030188	Tremor by anatomical site	25782	RAB3GAP2	ORPHA:401830
HP:0030188	Tremor by anatomical site	11160	ERLIN2	ORPHA:280384
HP:0030188	Tremor by anatomical site	11160	ERLIN2	ORPHA:209951
HP:0030188	Tremor by anatomical site	10558	SPTLC1	OMIM:162400
HP:0030188	Tremor by anatomical site	4141	MARS1	ORPHA:401835
HP:0030188	Tremor by anatomical site	388662	SLC6A17	ORPHA:457212
HP:0030188	Tremor by anatomical site	1861	TOR1A	OMIM:618947
HP:0030188	Tremor by anatomical site	6606	SMN1	OMIM:271150
HP:0030188	Tremor by anatomical site	6606	SMN1	OMIM:253400
HP:0030188	Tremor by anatomical site	6606	SMN1	OMIM:253550
HP:0030188	Tremor by anatomical site	5165	PDK3	OMIM:300905
HP:0030188	Tremor by anatomical site	5165	PDK3	ORPHA:352675
HP:0030188	Tremor by anatomical site	7253	TSHR	ORPHA:99819
HP:0030188	Tremor by anatomical site	7253	TSHR	ORPHA:424
HP:0030188	Tremor by anatomical site	4803	NGF	OMIM:608654
HP:0030188	Tremor by anatomical site	6607	SMN2	OMIM:253400
HP:0030188	Tremor by anatomical site	6872	TAF1	ORPHA:53351
HP:0030188	Tremor by anatomical site	2259	FGF14	ORPHA:98764
HP:0030188	Tremor by anatomical site	51663	ZFR	ORPHA:401840
HP:0030188	Tremor by anatomical site	5428	POLG	OMIM:157640
HP:0030188	Tremor by anatomical site	151	ADRA2B	ORPHA:86814
HP:0030188	Tremor by anatomical site	55689	YEATS2	ORPHA:86814
HP:0030188	Tremor by anatomical site	1501	CTNND2	ORPHA:86814
HP:0030188	Tremor by anatomical site	10299	MARCHF6	ORPHA:86814
HP:0030188	Tremor by anatomical site	6900	CNTN2	ORPHA:86814
HP:0030188	Tremor by anatomical site	401474	SAMD12	ORPHA:86814
HP:0030188	Tremor by anatomical site	55023	PHIP	ORPHA:589905
HP:0030188	Tremor by anatomical site	5375	PMP2	OMIM:618279
HP:0030188	Tremor by anatomical site	1814	DRD3	OMIM:190300
HP:0030188	Tremor by anatomical site	122553	TRAPPC6B	OMIM:617862
HP:0030188	Tremor by anatomical site	23503	ZFYVE26	ORPHA:100996
HP:0030188	Tremor by anatomical site	5155	PDGFB	OMIM:615483
HP:0030188	Tremor by anatomical site	2705	GJB1	OMIM:302800
HP:0030188	Tremor by anatomical site	10058	ABCB6	OMIM:609153
HP:0030188	Tremor by anatomical site	23261	CAMTA1	OMIM:614756
HP:0030188	Tremor by anatomical site	57505	AARS2	OMIM:615889
HP:0030188	Tremor by anatomical site	8398	PLA2G6	OMIM:612953
HP:0030188	Tremor by anatomical site	10342	TFG	OMIM:604484
HP:0030188	Tremor by anatomical site	57465	TBC1D24	OMIM:608105
HP:0030188	Tremor by anatomical site	7443	VRK1	OMIM:607596
HP:0030188	Tremor by anatomical site	540	ATP7B	OMIM:277900
HP:0030188	Tremor by anatomical site	2645	GCK	ORPHA:79299
HP:0030188	Tremor by anatomical site	9927	MFN2	ORPHA:99947
HP:0030188	Tremor by anatomical site	16	AARS1	OMIM:619691
HP:0030188	Tremor by anatomical site	3735	KARS1	ORPHA:3240
HP:0030188	Tremor by anatomical site	7345	UCHL1	OMIM:615491
HP:0030188	Tremor by anatomical site	84504	NKX6-2	ORPHA:527497
HP:0030188	Tremor by anatomical site	84504	NKX6-2	OMIM:617560
HP:0030188	Tremor by anatomical site	6711	SPTBN1	OMIM:619475
HP:0030188	Tremor by anatomical site	57679	ALS2	OMIM:205100
HP:0030188	Tremor by anatomical site	57679	ALS2	ORPHA:300605
HP:0030188	Tremor by anatomical site	267010	RNU12	OMIM:620208
HP:0030188	Tremor by anatomical site	9725	TMEM63A	OMIM:618688
HP:0030188	Tremor by anatomical site	57165	GJC2	OMIM:608804
HP:0030188	Tremor by anatomical site	7274	TTPA	ORPHA:96
HP:0030188	Tremor by anatomical site	2521	FUS	ORPHA:300605
HP:0030188	Tremor by anatomical site	80208	SPG11	ORPHA:300605
HP:0030188	Tremor by anatomical site	10280	SIGMAR1	ORPHA:300605
HP:0030188	Tremor by anatomical site	26275	HIBCH	ORPHA:88639
HP:0030188	Tremor by anatomical site	26275	HIBCH	OMIM:250620
HP:0030188	Tremor by anatomical site	5277	PIGA	OMIM:300868
HP:0030188	Tremor by anatomical site	3329	HSPD1	OMIM:612233
HP:0030188	Tremor by anatomical site	23230	VPS13A	ORPHA:2388
HP:0030188	Tremor by anatomical site	5610	EIF2AK2	OMIM:618877
HP:0030188	Tremor by anatomical site	10749	KIF1C	OMIM:611302
HP:0030188	Tremor by anatomical site	284217	LAMA1	ORPHA:370022
HP:0030188	Tremor by anatomical site	25885	POLR1A	OMIM:620675
HP:0030188	Tremor by anatomical site	4001	LMNB1	ORPHA:99027
HP:0030188	Tremor by anatomical site	5297	PI4KA	OMIM:619708
HP:0030188	Tremor by anatomical site	10382	TUBB4A	ORPHA:98805
HP:0030188	Tremor by anatomical site	9256	TSPOAP1	OMIM:620456
HP:0030188	Tremor by anatomical site	1293	COL6A3	ORPHA:464440
HP:0030188	Tremor by anatomical site	79587	CARS2	ORPHA:477774
HP:0030188	Tremor by anatomical site	5376	PMP22	OMIM:180800
HP:0030188	Tremor by anatomical site	4359	MPZ	OMIM:180800
HP:0030188	Tremor by anatomical site	5521	PPP2R2B	ORPHA:98762
HP:0030188	Tremor by anatomical site	3708	ITPR1	ORPHA:98769
HP:0030188	Tremor by anatomical site	22880	MORC2	ORPHA:466768
HP:0030188	Tremor by anatomical site	26011	TENM4	OMIM:616736
HP:0030188	Tremor by anatomical site	4604	MYBPC1	OMIM:618524
HP:0030188	Tremor by anatomical site	1203	CLN5	OMIM:256731
HP:0030188	Tremor by anatomical site	9409	PEX16	OMIM:614877
HP:0030188	Tremor by anatomical site	3704	ITPA	OMIM:616647
HP:0030188	Tremor by anatomical site	80055	PGAP1	ORPHA:401820
HP:0030188	Tremor by anatomical site	1644	DDC	OMIM:608643
HP:0030188	Tremor by anatomical site	2892	GRIA3	OMIM:300699
HP:0030188	Tremor by anatomical site	7337	UBE3A	OMIM:105830
HP:0030188	Tremor by anatomical site	6638	SNRPN	OMIM:105830
HP:0030188	Tremor by anatomical site	9578	CDC42BPB	OMIM:619841
HP:0030188	Tremor by anatomical site	9990	SLC12A6	OMIM:218000
HP:0030153	Cholangiocarcinoma	654	BMP6	ORPHA:465508
HP:0030153	Cholangiocarcinoma	3077	HFE	ORPHA:465508
HP:0030153	Cholangiocarcinoma	2859	GPR35	ORPHA:171
HP:0030153	Cholangiocarcinoma	10507	SEMA4D	ORPHA:171
HP:0030153	Cholangiocarcinoma	4485	MST1	ORPHA:171
HP:0030153	Cholangiocarcinoma	6925	TCF4	ORPHA:171
HP:0030153	Cholangiocarcinoma	199221	DZIP1L	ORPHA:731
HP:0030153	Cholangiocarcinoma	5314	PKHD1	ORPHA:731
HP:0030153	Cholangiocarcinoma	5314	PKHD1	ORPHA:53035
HP:0100574	Biliary tract neoplasm	654	BMP6	ORPHA:465508
HP:0100574	Biliary tract neoplasm	3077	HFE	ORPHA:465508
HP:0100574	Biliary tract neoplasm	2859	GPR35	ORPHA:171
HP:0100574	Biliary tract neoplasm	10507	SEMA4D	ORPHA:171
HP:0100574	Biliary tract neoplasm	4485	MST1	ORPHA:171
HP:0100574	Biliary tract neoplasm	6925	TCF4	ORPHA:171
HP:0100574	Biliary tract neoplasm	199221	DZIP1L	ORPHA:731
HP:0100574	Biliary tract neoplasm	5314	PKHD1	ORPHA:731
HP:0100574	Biliary tract neoplasm	5314	PKHD1	ORPHA:53035
HP:0100574	Biliary tract neoplasm	672	BRCA1	ORPHA:70567
HP:0100574	Biliary tract neoplasm	675	BRCA2	ORPHA:70567
HP:0100574	Biliary tract neoplasm	5774	PTPN3	ORPHA:70567
HP:0100574	Biliary tract neoplasm	6098	ROS1	ORPHA:70567
HP:0100574	Biliary tract neoplasm	6794	STK11	ORPHA:2869
HP:0100574	Biliary tract neoplasm	54894	RNF43	ORPHA:157798
HP:0100574	Biliary tract neoplasm	410	ARSA	ORPHA:309271
HP:0100574	Biliary tract neoplasm	5660	PSAP	ORPHA:309271
HP:0030151	Cholangitis	9968	MED12	OMIM:301068
HP:0030151	Cholangitis	215	ABCD1	ORPHA:369942
HP:0030151	Cholangitis	10134	BCAP31	ORPHA:369942
HP:0030151	Cholangitis	331	XIAP	ORPHA:538934
HP:0030151	Cholangitis	5966	REL	OMIM:619652
HP:0030151	Cholangitis	5244	ABCB4	ORPHA:69663
HP:0030151	Cholangitis	5244	ABCB4	OMIM:600803
HP:0030151	Cholangitis	9742	IFT140	OMIM:266920
HP:0030151	Cholangitis	4261	CIITA	OMIM:209920
HP:0030151	Cholangitis	50615	IL21R	OMIM:615207
HP:0030151	Cholangitis	57539	WDR35	OMIM:613610
HP:0030151	Cholangitis	26525	IL36RN	OMIM:614204
HP:0030151	Cholangitis	83737	ITCH	ORPHA:228426
HP:0030151	Cholangitis	617	BCS1L	OMIM:124000
HP:0030151	Cholangitis	3514	IGKC	ORPHA:183675
HP:0030151	Cholangitis	3501	IGHG2	ORPHA:183675
HP:0030151	Cholangitis	199221	DZIP1L	ORPHA:731
HP:0030151	Cholangitis	5314	PKHD1	ORPHA:731
HP:0030151	Cholangitis	5314	PKHD1	ORPHA:53035
HP:0030151	Cholangitis	9076	CLDN1	OMIM:607626
HP:0030151	Cholangitis	5604	MAP2K1	ORPHA:389
HP:0030151	Cholangitis	4893	NRAS	ORPHA:389
HP:0030151	Cholangitis	673	BRAF	ORPHA:389
HP:0030151	Cholangitis	81704	DOCK8	OMIM:243700
HP:0030151	Cholangitis	5994	RFXAP	ORPHA:572
HP:0030151	Cholangitis	5993	RFX5	ORPHA:572
HP:0030151	Cholangitis	8625	RFXANK	ORPHA:572
HP:0030151	Cholangitis	8625	RFXANK	OMIM:620815
HP:0030151	Cholangitis	51473	DCDC2	OMIM:617394
HP:0030151	Cholangitis	113220	KIF12	OMIM:619662
HP:0030151	Cholangitis	959	CD40LG	OMIM:308230
HP:0030157	Flank pain	51726	DNAJB11	ORPHA:730
HP:0030157	Flank pain	23193	GANAB	ORPHA:730
HP:0030157	Flank pain	5310	PKD1	ORPHA:730
HP:0030157	Flank pain	5311	PKD2	ORPHA:730
HP:0030157	Flank pain	29880	ALG5	ORPHA:730
HP:0030157	Flank pain	9742	IFT140	ORPHA:730
HP:0030157	Flank pain	79796	ALG9	ORPHA:730
HP:0030157	Flank pain	80114	BICC1	ORPHA:730
HP:0030157	Flank pain	811	CALR	ORPHA:824
HP:0030157	Flank pain	4352	MPL	ORPHA:824
HP:0030157	Flank pain	3717	JAK2	ORPHA:824
HP:0030157	Flank pain	54790	TET2	ORPHA:824
HP:0030157	Flank pain	9096	TBX18	OMIM:143400
HP:0030157	Flank pain	353	APRT	ORPHA:976
HP:0030164	Jaw claudication	26191	PTPN22	ORPHA:397
HP:0030164	Jaw claudication	3106	HLA-B	ORPHA:397
HP:0030164	Jaw claudication	3123	HLA-DRB1	ORPHA:397
HP:0030164	Jaw claudication	8974	P4HA2	ORPHA:397
HP:0030164	Jaw claudication	6288	SAA1	ORPHA:85445
HP:0030163	Abnormal vascular physiology	4702	NDUFA8	OMIM:619272
HP:0030163	Abnormal vascular physiology	2294	FOXF1	OMIM:265380
HP:0030163	Abnormal vascular physiology	2294	FOXF1	ORPHA:210122
HP:0030163	Abnormal vascular physiology	4558	MT-TF	ORPHA:550
HP:0030163	Abnormal vascular physiology	4572	MT-TQ	ORPHA:550
HP:0030163	Abnormal vascular physiology	4512	MT-CO1	ORPHA:550
HP:0030163	Abnormal vascular physiology	4513	MT-CO2	ORPHA:550
HP:0030163	Abnormal vascular physiology	4514	MT-CO3	ORPHA:550
HP:0030163	Abnormal vascular physiology	4578	MT-TW	ORPHA:550
HP:0030163	Abnormal vascular physiology	4540	MT-ND5	ORPHA:550
HP:0030163	Abnormal vascular physiology	4541	MT-ND6	ORPHA:550
HP:0030163	Abnormal vascular physiology	4535	MT-ND1	ORPHA:550
HP:0030163	Abnormal vascular physiology	4538	MT-ND4	ORPHA:550
HP:0030163	Abnormal vascular physiology	4567	MT-TL1	ORPHA:550
HP:0030163	Abnormal vascular physiology	4574	MT-TS1	ORPHA:550
HP:0030163	Abnormal vascular physiology	4575	MT-TS2	ORPHA:550
HP:0030163	Abnormal vascular physiology	4564	MT-TH	ORPHA:550
HP:0030163	Abnormal vascular physiology	7428	VHL	OMIM:263400
HP:0030163	Abnormal vascular physiology	79717	PPCS	OMIM:618189
HP:0030163	Abnormal vascular physiology	26235	FBXL4	OMIM:615471
HP:0030163	Abnormal vascular physiology	776	CACNA1D	OMIM:615474
HP:0030163	Abnormal vascular physiology	776	CACNA1D	ORPHA:369929
HP:0030163	Abnormal vascular physiology	498	ATP5F1A	OMIM:616045
HP:0030163	Abnormal vascular physiology	775	CACNA1C	OMIM:620029
HP:0030163	Abnormal vascular physiology	775	CACNA1C	OMIM:601005
HP:0030163	Abnormal vascular physiology	81857	MED25	OMIM:616449
HP:0030163	Abnormal vascular physiology	81857	MED25	ORPHA:464738
HP:0030163	Abnormal vascular physiology	3875	KRT18	OMIM:215600
HP:0030163	Abnormal vascular physiology	8854	ALDH1A2	OMIM:620025
HP:0030163	Abnormal vascular physiology	90459	ERI1	OMIM:620663
HP:0030163	Abnormal vascular physiology	1235	CCR6	ORPHA:220402
HP:0030163	Abnormal vascular physiology	1235	CCR6	ORPHA:220393
HP:0030163	Abnormal vascular physiology	1490	CCN2	ORPHA:220402
HP:0030163	Abnormal vascular physiology	1490	CCN2	ORPHA:220393
HP:0030163	Abnormal vascular physiology	411	ARSB	OMIM:253200
HP:0030163	Abnormal vascular physiology	10312	TCIRG1	ORPHA:667
HP:0030163	Abnormal vascular physiology	1186	CLCN7	ORPHA:667
HP:0030163	Abnormal vascular physiology	29887	SNX10	ORPHA:667
HP:0030163	Abnormal vascular physiology	8600	TNFSF11	ORPHA:667
HP:0030163	Abnormal vascular physiology	27125	AFF4	ORPHA:444077
HP:0030163	Abnormal vascular physiology	4784	NFIX	ORPHA:447980
HP:0030163	Abnormal vascular physiology	4784	NFIX	OMIM:602535
HP:0030163	Abnormal vascular physiology	55315	SLC29A3	OMIM:602782
HP:0030163	Abnormal vascular physiology	1349	COX7B	OMIM:300887
HP:0030163	Abnormal vascular physiology	23395	LARS2	OMIM:617021
HP:0030163	Abnormal vascular physiology	727897	MUC5B	OMIM:178500
HP:0030163	Abnormal vascular physiology	6440	SFTPC	OMIM:178500
HP:0030163	Abnormal vascular physiology	6440	SFTPC	OMIM:610913
HP:0030163	Abnormal vascular physiology	729238	SFTPA2	OMIM:178500
HP:0030163	Abnormal vascular physiology	51601	LIPT1	OMIM:616299
HP:0030163	Abnormal vascular physiology	30008	EFEMP2	OMIM:614437
HP:0030163	Abnormal vascular physiology	5698	PSMB9	OMIM:620796
HP:0030163	Abnormal vascular physiology	3908	LAMA2	ORPHA:258
HP:0030163	Abnormal vascular physiology	9382	COG1	ORPHA:263508
HP:0030163	Abnormal vascular physiology	6439	SFTPB	OMIM:265120
HP:0030163	Abnormal vascular physiology	6439	SFTPB	ORPHA:217563
HP:0030163	Abnormal vascular physiology	1340	COX6B1	OMIM:619051
HP:0030163	Abnormal vascular physiology	65082	VPS33A	ORPHA:505248
HP:0030163	Abnormal vascular physiology	1351	COX8A	OMIM:619059
HP:0030163	Abnormal vascular physiology	50619	DEF6	OMIM:619573
HP:0030163	Abnormal vascular physiology	79572	ATP13A3	OMIM:265400
HP:0030163	Abnormal vascular physiology	8260	NAA10	OMIM:300855
HP:0030163	Abnormal vascular physiology	9469	CHST3	OMIM:143095
HP:0030163	Abnormal vascular physiology	9968	MED12	ORPHA:93932
HP:0030163	Abnormal vascular physiology	92579	G6PC3	OMIM:612541
HP:0030163	Abnormal vascular physiology	56244	BTNL2	OMIM:612387
HP:0030163	Abnormal vascular physiology	2260	FGFR1	ORPHA:2396
HP:0030163	Abnormal vascular physiology	7080	NKX2-1	ORPHA:209905
HP:0030163	Abnormal vascular physiology	55750	AGK	OMIM:212350
HP:0030163	Abnormal vascular physiology	9377	COX5A	OMIM:619064
HP:0030163	Abnormal vascular physiology	9496	TBX4	ORPHA:261279
HP:0030163	Abnormal vascular physiology	9896	FIG4	ORPHA:3472
HP:0030163	Abnormal vascular physiology	9896	FIG4	OMIM:216340
HP:0030163	Abnormal vascular physiology	55697	VAC14	ORPHA:3472
HP:0030163	Abnormal vascular physiology	3977	LIFR	OMIM:601559
HP:0030163	Abnormal vascular physiology	5826	ABCD4	OMIM:614857
HP:0030163	Abnormal vascular physiology	3425	IDUA	OMIM:607015
HP:0030163	Abnormal vascular physiology	4763	NF1	ORPHA:97685
HP:0030163	Abnormal vascular physiology	760	CA2	ORPHA:2785
HP:0030163	Abnormal vascular physiology	6772	STAT1	ORPHA:391487
HP:0030163	Abnormal vascular physiology	3572	IL6ST	OMIM:619751
HP:0030163	Abnormal vascular physiology	2261	FGFR3	OMIM:616482
HP:0030163	Abnormal vascular physiology	10664	CTCF	ORPHA:363611
HP:0030163	Abnormal vascular physiology	10526	IPO8	OMIM:619472
HP:0030163	Abnormal vascular physiology	7414	VCL	OMIM:613255
HP:0030163	Abnormal vascular physiology	29957	SLC25A24	OMIM:612289
HP:0030163	Abnormal vascular physiology	57514	ARHGAP31	OMIM:100300
HP:0030163	Abnormal vascular physiology	57514	ARHGAP31	ORPHA:974
HP:0030163	Abnormal vascular physiology	9719	ADAMTSL2	OMIM:231050
HP:0030163	Abnormal vascular physiology	8085	KMT2D	OMIM:620186
HP:0030163	Abnormal vascular physiology	8085	KMT2D	OMIM:147920
HP:0030163	Abnormal vascular physiology	23556	PIGN	ORPHA:280633
HP:0030163	Abnormal vascular physiology	4716	NDUFB10	OMIM:619003
HP:0030163	Abnormal vascular physiology	2629	GBA1	OMIM:230800
HP:0030163	Abnormal vascular physiology	2629	GBA1	ORPHA:2072
HP:0030163	Abnormal vascular physiology	2629	GBA1	ORPHA:77261
HP:0030163	Abnormal vascular physiology	2629	GBA1	ORPHA:77259
HP:0030163	Abnormal vascular physiology	374879	ZNF699	OMIM:619488
HP:0030163	Abnormal vascular physiology	27086	FOXP1	ORPHA:391372
HP:0030163	Abnormal vascular physiology	4256	MGP	ORPHA:85202
HP:0030163	Abnormal vascular physiology	8292	COLQ	ORPHA:98915
HP:0030163	Abnormal vascular physiology	3913	LAMB2	ORPHA:98915
HP:0030163	Abnormal vascular physiology	388015	RTL1	ORPHA:96334
HP:0030163	Abnormal vascular physiology	8788	DLK1	ORPHA:96334
HP:0030163	Abnormal vascular physiology	55384	MEG3	ORPHA:96334
HP:0030163	Abnormal vascular physiology	10551	AGR2	OMIM:620233
HP:0030163	Abnormal vascular physiology	3516	RBPJ	ORPHA:974
HP:0030163	Abnormal vascular physiology	4851	NOTCH1	ORPHA:974
HP:0030163	Abnormal vascular physiology	4851	NOTCH1	OMIM:616028
HP:0030163	Abnormal vascular physiology	57572	DOCK6	ORPHA:974
HP:0030163	Abnormal vascular physiology	285203	EOGT	ORPHA:974
HP:0030163	Abnormal vascular physiology	54567	DLL4	ORPHA:974
HP:0030163	Abnormal vascular physiology	6123	RPL3L	OMIM:619371
HP:0030163	Abnormal vascular physiology	79989	IFT56	OMIM:619534
HP:0030163	Abnormal vascular physiology	8815	BANF1	OMIM:614008
HP:0030163	Abnormal vascular physiology	5236	PGM1	OMIM:614921
HP:0030163	Abnormal vascular physiology	5557	PRIM1	OMIM:620005
HP:0030163	Abnormal vascular physiology	21	ABCA3	ORPHA:217563
HP:0030163	Abnormal vascular physiology	79645	CLXN	OMIM:620642
HP:0030163	Abnormal vascular physiology	64127	NOD2	ORPHA:90340
HP:0030163	Abnormal vascular physiology	3339	HSPG2	ORPHA:800
HP:0030163	Abnormal vascular physiology	6910	TBX5	OMIM:142900
HP:0030163	Abnormal vascular physiology	27247	NFU1	OMIM:605711
HP:0030163	Abnormal vascular physiology	8295	TRRAP	OMIM:618454
HP:0030163	Abnormal vascular physiology	93233	ODAD1	OMIM:615067
HP:0030163	Abnormal vascular physiology	51025	PAM16	OMIM:613320
HP:0030163	Abnormal vascular physiology	2316	FLNA	OMIM:309350
HP:0030163	Abnormal vascular physiology	23590	PDSS1	OMIM:614651
HP:0030163	Abnormal vascular physiology	826	CAPNS1	OMIM:620777
HP:0030163	Abnormal vascular physiology	7319	UBE2A	ORPHA:163956
HP:0030163	Abnormal vascular physiology	54938	SARS2	OMIM:613845
HP:0030163	Abnormal vascular physiology	389827	MYMK	OMIM:254940
HP:0030163	Abnormal vascular physiology	5052	PRDX1	OMIM:277400
HP:0030163	Abnormal vascular physiology	950	SCARB2	ORPHA:77259
HP:0030163	Abnormal vascular physiology	7403	KDM6A	OMIM:147920
HP:0030163	Abnormal vascular physiology	3043	HBB	ORPHA:232
HP:0030163	Abnormal vascular physiology	81031	SLC2A10	OMIM:208050
HP:0030163	Abnormal vascular physiology	6651	SON	ORPHA:500150
HP:0030163	Abnormal vascular physiology	6331	SCN5A	ORPHA:1344
HP:0030163	Abnormal vascular physiology	4878	NPPA	ORPHA:1344
HP:0030163	Abnormal vascular physiology	79184	BRCC3	ORPHA:280679
HP:0030163	Abnormal vascular physiology	2783	GNB2	OMIM:619503
HP:0030163	Abnormal vascular physiology	7046	TGFBR1	ORPHA:91387
HP:0030163	Abnormal vascular physiology	7048	TGFBR2	ORPHA:91387
HP:0030163	Abnormal vascular physiology	4015	LOX	ORPHA:91387
HP:0030163	Abnormal vascular physiology	4087	SMAD2	ORPHA:91387
HP:0030163	Abnormal vascular physiology	7043	TGFB3	ORPHA:91387
HP:0030163	Abnormal vascular physiology	4088	SMAD3	ORPHA:91387
HP:0030163	Abnormal vascular physiology	7042	TGFB2	ORPHA:91387
HP:0030163	Abnormal vascular physiology	2200	FBN1	ORPHA:91387
HP:0030163	Abnormal vascular physiology	59	ACTA2	ORPHA:91387
HP:0030163	Abnormal vascular physiology	5592	PRKG1	ORPHA:91387
HP:0030163	Abnormal vascular physiology	2301	FOXE3	ORPHA:91387
HP:0030163	Abnormal vascular physiology	4144	MAT2A	ORPHA:91387
HP:0030163	Abnormal vascular physiology	23493	HEY2	ORPHA:91387
HP:0030163	Abnormal vascular physiology	8076	MFAP5	ORPHA:91387
HP:0030163	Abnormal vascular physiology	4638	MYLK	ORPHA:91387
HP:0030163	Abnormal vascular physiology	79875	THSD4	ORPHA:91387
HP:0030163	Abnormal vascular physiology	2658	GDF2	ORPHA:774
HP:0030163	Abnormal vascular physiology	94	ACVRL1	ORPHA:774
HP:0030163	Abnormal vascular physiology	4089	SMAD4	ORPHA:774
HP:0030163	Abnormal vascular physiology	2022	ENG	ORPHA:774
HP:0030163	Abnormal vascular physiology	875	CBS	ORPHA:394
HP:0030163	Abnormal vascular physiology	6005	RHAG	OMIM:185000
HP:0030163	Abnormal vascular physiology	2162	F13A1	OMIM:188050
HP:0030163	Abnormal vascular physiology	2147	F2	OMIM:188050
HP:0030163	Abnormal vascular physiology	3026	HABP2	OMIM:188050
HP:0030163	Abnormal vascular physiology	4524	MTHFR	OMIM:188050
HP:0030163	Abnormal vascular physiology	7056	THBD	OMIM:614486
HP:0030163	Abnormal vascular physiology	25974	MMACHC	ORPHA:79282
HP:0030163	Abnormal vascular physiology	5624	PROC	OMIM:612304
HP:0030163	Abnormal vascular physiology	5624	PROC	ORPHA:745
HP:0030163	Abnormal vascular physiology	5624	PROC	OMIM:176860
HP:0030163	Abnormal vascular physiology	55109	AGGF1	ORPHA:90308
HP:0030163	Abnormal vascular physiology	5290	PIK3CA	ORPHA:90308
HP:0030163	Abnormal vascular physiology	5627	PROS1	ORPHA:743
HP:0030163	Abnormal vascular physiology	5627	PROS1	OMIM:614514
HP:0030163	Abnormal vascular physiology	5627	PROS1	OMIM:612336
HP:0030163	Abnormal vascular physiology	2776	GNAQ	ORPHA:624
HP:0030163	Abnormal vascular physiology	2776	GNAQ	ORPHA:3205
HP:0030163	Abnormal vascular physiology	207	AKT1	ORPHA:744
HP:0030163	Abnormal vascular physiology	5354	PLP1	ORPHA:99015
HP:0030163	Abnormal vascular physiology	3762	KCNJ5	OMIM:613485
HP:0030163	Abnormal vascular physiology	2157	F8	OMIM:301071
HP:0030163	Abnormal vascular physiology	149233	IL23R	ORPHA:117
HP:0030163	Abnormal vascular physiology	4210	MEFV	ORPHA:117
HP:0030163	Abnormal vascular physiology	1230	CCR1	ORPHA:117
HP:0030163	Abnormal vascular physiology	355	FAS	ORPHA:117
HP:0030163	Abnormal vascular physiology	3592	IL12A	ORPHA:117
HP:0030163	Abnormal vascular physiology	101928376	IL12A-AS1	ORPHA:117
HP:0030163	Abnormal vascular physiology	7099	TLR4	ORPHA:117
HP:0030163	Abnormal vascular physiology	3459	IFNGR1	ORPHA:117
HP:0030163	Abnormal vascular physiology	337867	UBAC2	ORPHA:117
HP:0030163	Abnormal vascular physiology	51752	ERAP1	ORPHA:117
HP:0030163	Abnormal vascular physiology	8302	KLRC4	ORPHA:117
HP:0030163	Abnormal vascular physiology	4607	MYBPC3	OMIM:115197
HP:0030163	Abnormal vascular physiology	2717	GLA	OMIM:301500
HP:0030163	Abnormal vascular physiology	2717	GLA	ORPHA:324
HP:0030163	Abnormal vascular physiology	55107	ANO1	OMIM:620687
HP:0030163	Abnormal vascular physiology	71	ACTG1	ORPHA:2995
HP:0030163	Abnormal vascular physiology	60	ACTB	ORPHA:2995
HP:0030163	Abnormal vascular physiology	5654	HTRA1	OMIM:600142
HP:0030163	Abnormal vascular physiology	5654	HTRA1	OMIM:616779
HP:0030163	Abnormal vascular physiology	3845	KRAS	OMIM:600268
HP:0030163	Abnormal vascular physiology	10019	SH2B3	ORPHA:3318
HP:0030163	Abnormal vascular physiology	811	CALR	ORPHA:3318
HP:0030163	Abnormal vascular physiology	54790	TET2	ORPHA:3318
HP:0030163	Abnormal vascular physiology	57674	RNF213	OMIM:607151
HP:0030163	Abnormal vascular physiology	11093	ADAMTS13	OMIM:274150
HP:0030163	Abnormal vascular physiology	55901	THSD1	ORPHA:231160
HP:0030163	Abnormal vascular physiology	7049	TGFBR3	ORPHA:231160
HP:0030163	Abnormal vascular physiology	83854	ANGPTL6	ORPHA:231160
HP:0030163	Abnormal vascular physiology	4854	NOTCH3	ORPHA:136
HP:0030163	Abnormal vascular physiology	4352	MPL	ORPHA:71493
HP:0030163	Abnormal vascular physiology	7066	THPO	ORPHA:71493
HP:0030163	Abnormal vascular physiology	162417	NAGS	ORPHA:927
HP:0030163	Abnormal vascular physiology	4625	MYH7	ORPHA:1880
HP:0030163	Abnormal vascular physiology	6804	STX1A	ORPHA:904
HP:0030163	Abnormal vascular physiology	7461	CLIP2	ORPHA:904
HP:0030163	Abnormal vascular physiology	84277	DNAJC30	ORPHA:904
HP:0030163	Abnormal vascular physiology	8468	FKBP6	ORPHA:904
HP:0030163	Abnormal vascular physiology	5982	RFC2	ORPHA:904
HP:0030163	Abnormal vascular physiology	2969	GTF2I	ORPHA:904
HP:0030163	Abnormal vascular physiology	3984	LIMK1	ORPHA:904
HP:0030163	Abnormal vascular physiology	9569	GTF2IRD1	ORPHA:904
HP:0030163	Abnormal vascular physiology	155382	VPS37D	ORPHA:904
HP:0030163	Abnormal vascular physiology	155368	METTL27	ORPHA:904
HP:0030163	Abnormal vascular physiology	114049	BUD23	ORPHA:904
HP:0030163	Abnormal vascular physiology	7458	EIF4H	ORPHA:904
HP:0030163	Abnormal vascular physiology	84163	GTF2IRD2	ORPHA:904
HP:0030163	Abnormal vascular physiology	26608	TBL2	ORPHA:904
HP:0030163	Abnormal vascular physiology	653361	NCF1	ORPHA:904
HP:0030163	Abnormal vascular physiology	135886	TMEM270	ORPHA:904
HP:0030163	Abnormal vascular physiology	9031	BAZ1B	ORPHA:904
HP:0030163	Abnormal vascular physiology	2006	ELN	ORPHA:904
HP:0030163	Abnormal vascular physiology	6340	SCNN1G	ORPHA:526
HP:0030163	Abnormal vascular physiology	6338	SCNN1B	ORPHA:526
HP:0030163	Abnormal vascular physiology	6337	SCNN1A	ORPHA:526
HP:0030163	Abnormal vascular physiology	3115	HLA-DPB1	ORPHA:900
HP:0030163	Abnormal vascular physiology	5657	PRTN3	ORPHA:900
HP:0030163	Abnormal vascular physiology	3113	HLA-DPA1	ORPHA:900
HP:0030163	Abnormal vascular physiology	8517	IKBKG	ORPHA:464
HP:0030163	Abnormal vascular physiology	351	APP	OMIM:605714
HP:0030163	Abnormal vascular physiology	50485	SMARCAL1	ORPHA:1830
HP:0030163	Abnormal vascular physiology	50485	SMARCAL1	OMIM:242900
HP:0030163	Abnormal vascular physiology	2050	EPHB4	ORPHA:137667
HP:0030163	Abnormal vascular physiology	1499	CTNNB1	ORPHA:54595
HP:0030163	Abnormal vascular physiology	2153	F5	OMIM:600880
HP:0030163	Abnormal vascular physiology	26277	TINF2	OMIM:127550
HP:0030163	Abnormal vascular physiology	7012	TERC	OMIM:127550
HP:0030163	Abnormal vascular physiology	7015	TERT	OMIM:127550
HP:0030163	Abnormal vascular physiology	1604	CD55	OMIM:226300
HP:0030163	Abnormal vascular physiology	5277	PIGA	ORPHA:447
HP:0030163	Abnormal vascular physiology	4907	NT5E	OMIM:211800
HP:0030163	Abnormal vascular physiology	189	AGXT	OMIM:259900
HP:0030163	Abnormal vascular physiology	3717	JAK2	ORPHA:729
HP:0030163	Abnormal vascular physiology	5167	ENPP1	ORPHA:758
HP:0030163	Abnormal vascular physiology	368	ABCC6	ORPHA:758
HP:0030163	Abnormal vascular physiology	368	ABCC6	OMIM:264800
HP:0030163	Abnormal vascular physiology	3593	IL12B	ORPHA:3287
HP:0030163	Abnormal vascular physiology	3106	HLA-B	ORPHA:3287
HP:0030163	Abnormal vascular physiology	6945	MLX	ORPHA:3287
HP:0030163	Abnormal vascular physiology	64131	XYLT1	OMIM:264800
HP:0030163	Abnormal vascular physiology	64132	XYLT2	OMIM:264800
HP:0030163	Abnormal vascular physiology	165	AEBP1	OMIM:618000
HP:0030163	Abnormal vascular physiology	3777	KCNK3	OMIM:615344
HP:0030163	Abnormal vascular physiology	6662	SOX9	ORPHA:718
HP:0030163	Abnormal vascular physiology	440275	EIF2AK4	ORPHA:199241
HP:0030163	Abnormal vascular physiology	144811	LACC1	ORPHA:85414
HP:0030163	Abnormal vascular physiology	4282	MIF	ORPHA:85414
HP:0030163	Abnormal vascular physiology	3569	IL6	ORPHA:85414
HP:0030163	Abnormal vascular physiology	4629	MYH11	OMIM:619351
HP:0030163	Abnormal vascular physiology	857	CAV1	OMIM:615343
HP:0030163	Abnormal vascular physiology	7092	TLL1	ORPHA:99103
HP:0030163	Abnormal vascular physiology	57057	TBX20	ORPHA:99103
HP:0030163	Abnormal vascular physiology	4624	MYH6	ORPHA:99103
HP:0030163	Abnormal vascular physiology	1482	NKX2-5	ORPHA:99103
HP:0030163	Abnormal vascular physiology	70	ACTC1	ORPHA:99103
HP:0030163	Abnormal vascular physiology	10370	CITED2	ORPHA:99103
HP:0030163	Abnormal vascular physiology	2626	GATA4	ORPHA:99103
HP:0030163	Abnormal vascular physiology	2627	GATA6	ORPHA:99103
HP:0030163	Abnormal vascular physiology	10568	SLC34A2	ORPHA:60025
HP:0030163	Abnormal vascular physiology	659	BMPR2	OMIM:178600
HP:0030163	Abnormal vascular physiology	4093	SMAD9	OMIM:615342
HP:0030163	Abnormal vascular physiology	84196	USP48	ORPHA:96253
HP:0030163	Abnormal vascular physiology	7157	TP53	ORPHA:96253
HP:0030163	Abnormal vascular physiology	9101	USP8	ORPHA:96253
HP:0030163	Abnormal vascular physiology	64072	CDH23	ORPHA:96253
HP:0030163	Abnormal vascular physiology	2908	NR3C1	ORPHA:96253
HP:0030163	Abnormal vascular physiology	673	BRAF	ORPHA:96253
HP:0030163	Abnormal vascular physiology	546	ATRX	ORPHA:96253
HP:0030163	Abnormal vascular physiology	7512	XPNPEP2	ORPHA:100057
HP:0030163	Abnormal vascular physiology	1281	COL3A1	OMIM:130050
HP:0030163	Abnormal vascular physiology	1277	COL1A1	ORPHA:287
HP:0030163	Abnormal vascular physiology	1277	COL1A1	OMIM:619115
HP:0030163	Abnormal vascular physiology	1289	COL5A1	ORPHA:287
HP:0030163	Abnormal vascular physiology	1290	COL5A2	ORPHA:287
HP:0030163	Abnormal vascular physiology	5351	PLOD1	OMIM:225400
HP:0030163	Abnormal vascular physiology	5351	PLOD1	ORPHA:1900
HP:0030163	Abnormal vascular physiology	1278	COL1A2	OMIM:619120
HP:0030163	Abnormal vascular physiology	55033	FKBP14	ORPHA:300179
HP:0030163	Abnormal vascular physiology	8985	PLOD3	OMIM:612394
HP:0030163	Abnormal vascular physiology	462	SERPINC1	OMIM:613118
HP:0030163	Abnormal vascular physiology	7840	ALMS1	ORPHA:64
HP:0030163	Abnormal vascular physiology	3932	LCK	OMIM:615758
HP:0030163	Abnormal vascular physiology	2492	FSHR	ORPHA:64739
HP:0030163	Abnormal vascular physiology	26191	PTPN22	ORPHA:397
HP:0030163	Abnormal vascular physiology	3123	HLA-DRB1	ORPHA:397
HP:0030163	Abnormal vascular physiology	8974	P4HA2	ORPHA:397
HP:0030163	Abnormal vascular physiology	6288	SAA1	ORPHA:85445
HP:0030163	Abnormal vascular physiology	654	BMP6	ORPHA:465508
HP:0030163	Abnormal vascular physiology	3077	HFE	ORPHA:465508
HP:0030163	Abnormal vascular physiology	6261	RYR1	ORPHA:466650
HP:0030163	Abnormal vascular physiology	213	ALB	ORPHA:86816
HP:0030163	Abnormal vascular physiology	2982	GUCY1A1	OMIM:615750
HP:0030163	Abnormal vascular physiology	2982	GUCY1A1	ORPHA:401945
HP:0030163	Abnormal vascular physiology	11277	TREX1	OMIM:192315
HP:0030163	Abnormal vascular physiology	11277	TREX1	ORPHA:536
HP:0030163	Abnormal vascular physiology	11277	TREX1	OMIM:610448
HP:0030163	Abnormal vascular physiology	11277	TREX1	ORPHA:247691
HP:0030163	Abnormal vascular physiology	11277	TREX1	ORPHA:51
HP:0030163	Abnormal vascular physiology	27235	COQ2	ORPHA:227510
HP:0030163	Abnormal vascular physiology	27235	COQ2	ORPHA:98933
HP:0030163	Abnormal vascular physiology	6775	STAT4	ORPHA:93552
HP:0030163	Abnormal vascular physiology	6775	STAT4	ORPHA:536
HP:0030163	Abnormal vascular physiology	6696	SPP1	ORPHA:93552
HP:0030163	Abnormal vascular physiology	6696	SPP1	ORPHA:536
HP:0030163	Abnormal vascular physiology	6303	SAT1	ORPHA:93552
HP:0030163	Abnormal vascular physiology	3654	IRAK1	ORPHA:93552
HP:0030163	Abnormal vascular physiology	3654	IRAK1	ORPHA:536
HP:0030163	Abnormal vascular physiology	51816	ADA2	ORPHA:820
HP:0030163	Abnormal vascular physiology	51816	ADA2	OMIM:615688
HP:0030163	Abnormal vascular physiology	51284	TLR7	OMIM:301080
HP:0030163	Abnormal vascular physiology	51284	TLR7	ORPHA:536
HP:0030163	Abnormal vascular physiology	4000	LMNA	ORPHA:740
HP:0030163	Abnormal vascular physiology	10269	ZMPSTE24	ORPHA:740
HP:0030163	Abnormal vascular physiology	81575	APOLD1	OMIM:620715
HP:0030163	Abnormal vascular physiology	29927	SEC61A1	OMIM:620670
HP:0030163	Abnormal vascular physiology	2215	FCGR3B	ORPHA:536
HP:0030163	Abnormal vascular physiology	3684	ITGAM	ORPHA:536
HP:0030163	Abnormal vascular physiology	3586	IL10	ORPHA:536
HP:0030163	Abnormal vascular physiology	221895	JAZF1	ORPHA:536
HP:0030163	Abnormal vascular physiology	7292	TNFSF4	ORPHA:536
HP:0030163	Abnormal vascular physiology	640	BLK	ORPHA:536
HP:0030163	Abnormal vascular physiology	720	C4A	ORPHA:536
HP:0030163	Abnormal vascular physiology	55024	BANK1	ORPHA:536
HP:0030163	Abnormal vascular physiology	3500	IGHG1	ORPHA:536
HP:0030163	Abnormal vascular physiology	1493	CTLA4	ORPHA:536
HP:0030163	Abnormal vascular physiology	1380	CR2	ORPHA:536
HP:0030163	Abnormal vascular physiology	5133	PDCD1	ORPHA:536
HP:0030163	Abnormal vascular physiology	2113	ETS1	ORPHA:536
HP:0030163	Abnormal vascular physiology	2213	FCGR2B	ORPHA:536
HP:0030163	Abnormal vascular physiology	10318	TNIP1	ORPHA:536
HP:0030163	Abnormal vascular physiology	7332	UBE2L3	ORPHA:536
HP:0030163	Abnormal vascular physiology	79932	KIAA0319L	ORPHA:536
HP:0030163	Abnormal vascular physiology	4204	MECP2	ORPHA:536
HP:0030163	Abnormal vascular physiology	3663	IRF5	ORPHA:536
HP:0030163	Abnormal vascular physiology	721	C4B	ORPHA:536
HP:0030163	Abnormal vascular physiology	1773	DNASE1	ORPHA:536
HP:0030163	Abnormal vascular physiology	54899	PXK	ORPHA:536
HP:0030163	Abnormal vascular physiology	7128	TNFAIP3	ORPHA:536
HP:0030163	Abnormal vascular physiology	54	ACP5	OMIM:607944
HP:0030163	Abnormal vascular physiology	54	ACP5	ORPHA:1855
HP:0030163	Abnormal vascular physiology	54941	RNF125	OMIM:616260
HP:0030163	Abnormal vascular physiology	3930	LBR	OMIM:613471
HP:0030163	Abnormal vascular physiology	340061	STING1	OMIM:615934
HP:0030163	Abnormal vascular physiology	1282	COL4A1	OMIM:611773
HP:0030163	Abnormal vascular physiology	3265	HRAS	ORPHA:2874
HP:0030163	Abnormal vascular physiology	10535	RNASEH2A	ORPHA:51
HP:0030163	Abnormal vascular physiology	84153	RNASEH2C	ORPHA:51
HP:0030163	Abnormal vascular physiology	25939	SAMHD1	ORPHA:51
HP:0030163	Abnormal vascular physiology	79621	RNASEH2B	ORPHA:51
HP:0030163	Abnormal vascular physiology	103	ADAR	ORPHA:51
HP:0030163	Abnormal vascular physiology	100147744	RNU7-1	ORPHA:51
HP:0030163	Abnormal vascular physiology	134353	LSM11	ORPHA:51
HP:0030163	Abnormal vascular physiology	64135	IFIH1	ORPHA:51
HP:0030163	Abnormal vascular physiology	1188	CLCNKB	ORPHA:358
HP:0030163	Abnormal vascular physiology	6559	SLC12A3	ORPHA:358
HP:0030163	Abnormal vascular physiology	84665	MYPN	ORPHA:75249
HP:0030163	Abnormal vascular physiology	2318	FLNC	ORPHA:75249
HP:0030163	Abnormal vascular physiology	7139	TNNT2	ORPHA:75249
HP:0030163	Abnormal vascular physiology	7137	TNNI3	ORPHA:75249
HP:0030163	Abnormal vascular physiology	10112	KIF20A	ORPHA:75249
HP:0030163	Abnormal vascular physiology	6521	SLC4A1	ORPHA:3202
HP:0030163	Abnormal vascular physiology	9780	PIEZO1	ORPHA:3202
HP:0030163	Abnormal vascular physiology	3783	KCNN4	ORPHA:3202
HP:0030163	Abnormal vascular physiology	2542	SLC37A4	ORPHA:79259
HP:0030163	Abnormal vascular physiology	79709	COLGALT1	OMIM:618360
HP:0030163	Abnormal vascular physiology	4668	NAGA	OMIM:609242
HP:0030163	Abnormal vascular physiology	5286	PIK3C2A	OMIM:618440
HP:0030163	Abnormal vascular physiology	5921	RASA1	ORPHA:90307
HP:0030162	Glomerulomegaly	2335	FN1	OMIM:601894
HP:0030160	Cervicitis	5340	PLG	ORPHA:722
HP:0030169	Gastric varix	9968	MED12	OMIM:301068
HP:0030169	Gastric varix	25913	POT1	OMIM:620367
HP:0030169	Gastric varix	5265	SERPINA1	OMIM:613490
HP:0030168	Dilated superficial abdominal veins	2859	GPR35	ORPHA:171
HP:0030168	Dilated superficial abdominal veins	10507	SEMA4D	ORPHA:171
HP:0030168	Dilated superficial abdominal veins	4485	MST1	ORPHA:171
HP:0030168	Dilated superficial abdominal veins	6925	TCF4	ORPHA:171
HP:0030167	Antimitochondrial antibody positivity	919	CD247	OMIM:610163
HP:0030167	Antimitochondrial antibody positivity	3594	IL12RB1	ORPHA:186
HP:0030167	Antimitochondrial antibody positivity	23534	TNPO3	ORPHA:186
HP:0030167	Antimitochondrial antibody positivity	3592	IL12A	ORPHA:186
HP:0030167	Antimitochondrial antibody positivity	6689	SPIB	ORPHA:186
HP:0030167	Antimitochondrial antibody positivity	5450	POU2AF1	ORPHA:186
HP:0030167	Antimitochondrial antibody positivity	9966	TNFSF15	ORPHA:186
HP:0030167	Antimitochondrial antibody positivity	79258	MMEL1	ORPHA:186
HP:0030167	Antimitochondrial antibody positivity	3663	IRF5	ORPHA:186
HP:0030167	Antimitochondrial antibody positivity	4067	LYN	OMIM:620376
HP:0030167	Antimitochondrial antibody positivity	3930	LBR	OMIM:613471
HP:0030166	Night sweats	7317	UBA1	OMIM:301054
HP:0030166	Night sweats	182	JAG1	OMIM:619574
HP:0030166	Night sweats	4665	NAB2	ORPHA:2126
HP:0030166	Night sweats	6778	STAT6	ORPHA:2126
HP:0030166	Night sweats	3459	IFNGR1	OMIM:209950
HP:0030166	Night sweats	10165	SLC25A13	ORPHA:247585
HP:0030166	Night sweats	6392	SDHD	ORPHA:100093
HP:0030166	Night sweats	3593	IL12B	ORPHA:3287
HP:0030166	Night sweats	3106	HLA-B	ORPHA:3287
HP:0030166	Night sweats	6945	MLX	ORPHA:3287
HP:0030166	Night sweats	9256	TSPOAP1	ORPHA:101150
HP:0030166	Night sweats	7054	TH	ORPHA:101150
HP:0030166	Night sweats	1493	CTLA4	ORPHA:2584
HP:0030166	Night sweats	940	CD28	ORPHA:2584
HP:0030166	Night sweats	7133	TNFRSF1B	ORPHA:2584
HP:0030166	Night sweats	596	BCL2	ORPHA:545
HP:0030166	Night sweats	3492	IGH	ORPHA:545
HP:0030166	Night sweats	3123	HLA-DRB1	ORPHA:545
HP:0030166	Night sweats	604	BCL6	ORPHA:545
HP:0030166	Night sweats	83550	GPR101	ORPHA:963
HP:0030166	Night sweats	9049	AIP	ORPHA:963
HP:0030175	Myelin tomacula	5376	PMP22	OMIM:145900
HP:0030175	Myelin tomacula	4359	MPZ	OMIM:145900
HP:0030175	Myelin tomacula	1959	EGR2	OMIM:145900
HP:0030175	Myelin tomacula	57716	PRX	OMIM:145900
HP:0030190	Oral motor hypotonia	1497	CTNS	OMIM:219800
HP:0030190	Oral motor hypotonia	3064	HTT	ORPHA:248111
HP:0030190	Oral motor hypotonia	29998	BICRA	OMIM:619325
HP:0030191	Abnormal peripheral nervous system synaptic transmission	1103	CHAT	OMIM:254210
HP:0030191	Abnormal peripheral nervous system synaptic transmission	1145	CHRNE	OMIM:605809
HP:0030191	Abnormal peripheral nervous system synaptic transmission	8292	COLQ	ORPHA:98915
HP:0030191	Abnormal peripheral nervous system synaptic transmission	3913	LAMB2	ORPHA:98915
HP:0030191	Abnormal peripheral nervous system synaptic transmission	1134	CHRNA1	OMIM:608930
HP:0030191	Abnormal peripheral nervous system synaptic transmission	1134	CHRNA1	ORPHA:98913
HP:0030191	Abnormal peripheral nervous system synaptic transmission	6329	SCN4A	ORPHA:98913
HP:0030191	Abnormal peripheral nervous system synaptic transmission	4038	LRP4	ORPHA:98913
HP:0030191	Abnormal peripheral nervous system synaptic transmission	1305	COL13A1	ORPHA:98913
HP:0030191	Abnormal peripheral nervous system synaptic transmission	1140	CHRNB1	ORPHA:98913
HP:0030191	Abnormal peripheral nervous system synaptic transmission	1144	CHRND	ORPHA:98913
HP:0030191	Abnormal peripheral nervous system synaptic transmission	1144	CHRND	OMIM:616321
HP:0030191	Abnormal peripheral nervous system synaptic transmission	4593	MUSK	ORPHA:98913
HP:0030191	Abnormal peripheral nervous system synaptic transmission	5913	RAPSN	ORPHA:98913
HP:0030191	Abnormal peripheral nervous system synaptic transmission	375790	AGRN	ORPHA:98913
HP:0030191	Abnormal peripheral nervous system synaptic transmission	221264	AK9	ORPHA:98913
HP:0030191	Abnormal peripheral nervous system synaptic transmission	285489	DOK7	ORPHA:98913
HP:0030191	Abnormal peripheral nervous system synaptic transmission	5339	PLEC	ORPHA:257
HP:0030191	Abnormal peripheral nervous system synaptic transmission	34	ACADM	ORPHA:42
HP:0030191	Abnormal peripheral nervous system synaptic transmission	844	CASQ1	ORPHA:2593
HP:0030191	Abnormal peripheral nervous system synaptic transmission	84876	ORAI1	ORPHA:2593
HP:0030191	Abnormal peripheral nervous system synaptic transmission	6786	STIM1	ORPHA:2593
HP:0030191	Abnormal peripheral nervous system synaptic transmission	2767	GNA11	ORPHA:428
HP:0030191	Abnormal peripheral nervous system synaptic transmission	846	CASR	ORPHA:428
HP:0030191	Abnormal peripheral nervous system synaptic transmission	6261	RYR1	ORPHA:424107
HP:0030191	Abnormal peripheral nervous system synaptic transmission	60482	SLC5A7	OMIM:617143
HP:0030191	Abnormal peripheral nervous system synaptic transmission	60482	SLC5A7	ORPHA:98914
HP:0030191	Abnormal peripheral nervous system synaptic transmission	10568	SLC34A2	ORPHA:60025
HP:0030191	Abnormal peripheral nervous system synaptic transmission	6576	SLC25A1	OMIM:618197
HP:0030191	Abnormal peripheral nervous system synaptic transmission	6576	SLC25A1	ORPHA:98914
HP:0030191	Abnormal peripheral nervous system synaptic transmission	6616	SNAP25	OMIM:616330
HP:0030191	Abnormal peripheral nervous system synaptic transmission	6616	SNAP25	ORPHA:98914
HP:0030191	Abnormal peripheral nervous system synaptic transmission	4649	MYO9A	ORPHA:98914
HP:0030191	Abnormal peripheral nervous system synaptic transmission	6843	VAMP1	ORPHA:98914
HP:0030191	Abnormal peripheral nervous system synaptic transmission	127833	SYT2	ORPHA:98914
HP:0030191	Abnormal peripheral nervous system synaptic transmission	6572	SLC18A3	ORPHA:98914
HP:0030191	Abnormal peripheral nervous system synaptic transmission	28976	ACAD9	ORPHA:99901
HP:0030191	Abnormal peripheral nervous system synaptic transmission	29925	GMPPB	ORPHA:353327
HP:0030191	Abnormal peripheral nervous system synaptic transmission	2673	GFPT1	ORPHA:353327
HP:0030191	Abnormal peripheral nervous system synaptic transmission	1798	DPAGT1	ORPHA:353327
HP:0030191	Abnormal peripheral nervous system synaptic transmission	85365	ALG2	ORPHA:353327
HP:0030191	Abnormal peripheral nervous system synaptic transmission	199857	ALG14	ORPHA:353327
HP:0030191	Abnormal peripheral nervous system synaptic transmission	4534	MTM1	ORPHA:596
HP:0030191	Abnormal peripheral nervous system synaptic transmission	1674	DES	ORPHA:98909
HP:0030191	Abnormal peripheral nervous system synaptic transmission	84665	MYPN	ORPHA:171439
HP:0030191	Abnormal peripheral nervous system synaptic transmission	58	ACTA1	ORPHA:171439
HP:0030191	Abnormal peripheral nervous system synaptic transmission	58	ACTA1	ORPHA:2020
HP:0030191	Abnormal peripheral nervous system synaptic transmission	7169	TPM2	ORPHA:171439
HP:0030191	Abnormal peripheral nervous system synaptic transmission	7169	TPM2	ORPHA:2020
HP:0030191	Abnormal peripheral nervous system synaptic transmission	390594	KBTBD13	ORPHA:171439
HP:0030191	Abnormal peripheral nervous system synaptic transmission	4703	NEB	ORPHA:171439
HP:0030191	Abnormal peripheral nervous system synaptic transmission	10324	KLHL41	ORPHA:171439
HP:0030191	Abnormal peripheral nervous system synaptic transmission	7170	TPM3	ORPHA:171439
HP:0030191	Abnormal peripheral nervous system synaptic transmission	7170	TPM3	ORPHA:2020
HP:0030191	Abnormal peripheral nervous system synaptic transmission	57190	SELENON	ORPHA:2020
HP:0030191	Abnormal peripheral nervous system synaptic transmission	4633	MYL2	ORPHA:2020
HP:0030191	Abnormal peripheral nervous system synaptic transmission	3679	ITGA7	ORPHA:2020
HP:0030191	Abnormal peripheral nervous system synaptic transmission	9200	HACD1	ORPHA:2020
HP:0030191	Abnormal peripheral nervous system synaptic transmission	51776	MAP3K20	ORPHA:2020
HP:0030191	Abnormal peripheral nervous system synaptic transmission	25978	CHMP2B	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	3178	HNRNPA1	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	8148	TAF15	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	5445	PON2	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	9217	VAPB	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	8878	SQSTM1	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	5630	PRPH	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	29110	TBK1	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	55830	GLT8D1	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	755	CFAP410	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	10891	PPARGC1A	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	6647	SOD1	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	10133	OPTN	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	1639	DCTN1	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	9896	FIG4	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	5444	PON1	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	5446	PON3	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	4744	NEFH	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	5216	PFN1	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	9782	MATR3	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	54209	TREM2	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	7415	VCP	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	283	ANG	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	23435	TARDBP	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	29978	UBQLN2	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	2733	GLE1	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	2521	FUS	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	4750	NEK1	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	6311	ATXN2	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	1610	DAO	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	2066	ERBB4	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	311	ANXA11	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	23025	UNC13A	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	899	CCNF	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	400916	CHCHD10	ORPHA:803
HP:0030191	Abnormal peripheral nervous system synaptic transmission	353116	RILPL1	ORPHA:98897
HP:0030191	Abnormal peripheral nervous system synaptic transmission	10755	GIPC1	ORPHA:98897
HP:0030191	Abnormal peripheral nervous system synaptic transmission	29967	LRP12	ORPHA:98897
HP:0030191	Abnormal peripheral nervous system synaptic transmission	100996717	NOTCH2NLC	ORPHA:98897
HP:0030191	Abnormal peripheral nervous system synaptic transmission	122622	ADSS1	ORPHA:482601
HP:0030191	Abnormal peripheral nervous system synaptic transmission	55768	NGLY1	ORPHA:404454
HP:0030191	Abnormal peripheral nervous system synaptic transmission	22943	DKK1	ORPHA:268882
HP:0030191	Abnormal peripheral nervous system synaptic transmission	84334	COA8	ORPHA:436271
HP:0030191	Abnormal peripheral nervous system synaptic transmission	84033	OBSCN	ORPHA:99845
HP:0030191	Abnormal peripheral nervous system synaptic transmission	23175	LPIN1	ORPHA:99845
HP:0030191	Abnormal peripheral nervous system synaptic transmission	4512	MT-CO1	ORPHA:99845
HP:0030191	Abnormal peripheral nervous system synaptic transmission	4514	MT-CO3	ORPHA:99845
HP:0030191	Abnormal peripheral nervous system synaptic transmission	50484	RRM2B	ORPHA:329336
HP:0030191	Abnormal peripheral nervous system synaptic transmission	246243	RNASEH1	ORPHA:329336
HP:0030191	Abnormal peripheral nervous system synaptic transmission	779	CACNA1S	ORPHA:681
HP:0030191	Abnormal peripheral nervous system synaptic transmission	10008	KCNE3	ORPHA:681
HP:0030191	Abnormal peripheral nervous system synaptic transmission	56203	LMOD3	ORPHA:171436
HP:0030191	Abnormal peripheral nervous system synaptic transmission	1073	CFL2	ORPHA:171436
HP:0030191	Abnormal peripheral nervous system synaptic transmission	51305	KCNK9	ORPHA:166108
HP:0030191	Abnormal peripheral nervous system synaptic transmission	79147	FKRP	ORPHA:370968
HP:0030191	Abnormal peripheral nervous system synaptic transmission	29954	POMT2	ORPHA:370968
HP:0030191	Abnormal peripheral nervous system synaptic transmission	29954	POMT2	ORPHA:206559
HP:0030191	Abnormal peripheral nervous system synaptic transmission	9215	LARGE1	ORPHA:370968
HP:0030191	Abnormal peripheral nervous system synaptic transmission	10585	POMT1	ORPHA:370968
HP:0030191	Abnormal peripheral nervous system synaptic transmission	114034	TOE1	ORPHA:284339
HP:0030191	Abnormal peripheral nervous system synaptic transmission	9562	MINPP1	ORPHA:284339
HP:0030191	Abnormal peripheral nervous system synaptic transmission	11155	LDB3	ORPHA:98912
HP:0030191	Abnormal peripheral nervous system synaptic transmission	3094	HINT1	ORPHA:324442
HP:0030191	Abnormal peripheral nervous system synaptic transmission	10342	TFG	ORPHA:90117
HP:0030191	Abnormal peripheral nervous system synaptic transmission	2318	FLNC	ORPHA:63273
HP:0030191	Abnormal peripheral nervous system synaptic transmission	84196	USP48	ORPHA:96253
HP:0030191	Abnormal peripheral nervous system synaptic transmission	7157	TP53	ORPHA:96253
HP:0030191	Abnormal peripheral nervous system synaptic transmission	9101	USP8	ORPHA:96253
HP:0030191	Abnormal peripheral nervous system synaptic transmission	64072	CDH23	ORPHA:96253
HP:0030191	Abnormal peripheral nervous system synaptic transmission	2908	NR3C1	ORPHA:96253
HP:0030191	Abnormal peripheral nervous system synaptic transmission	673	BRAF	ORPHA:96253
HP:0030191	Abnormal peripheral nervous system synaptic transmission	546	ATRX	ORPHA:96253
HP:0030191	Abnormal peripheral nervous system synaptic transmission	23345	SYNE1	ORPHA:319332
HP:0030192	Fatigable weakness of bulbar muscles	4534	MTM1	ORPHA:596
HP:0030192	Fatigable weakness of bulbar muscles	1674	DES	ORPHA:98909
HP:0030192	Fatigable weakness of bulbar muscles	84665	MYPN	ORPHA:171439
HP:0030192	Fatigable weakness of bulbar muscles	58	ACTA1	ORPHA:171439
HP:0030192	Fatigable weakness of bulbar muscles	58	ACTA1	ORPHA:2020
HP:0030192	Fatigable weakness of bulbar muscles	7169	TPM2	ORPHA:171439
HP:0030192	Fatigable weakness of bulbar muscles	7169	TPM2	ORPHA:2020
HP:0030192	Fatigable weakness of bulbar muscles	390594	KBTBD13	ORPHA:171439
HP:0030192	Fatigable weakness of bulbar muscles	4703	NEB	ORPHA:171439
HP:0030192	Fatigable weakness of bulbar muscles	10324	KLHL41	ORPHA:171439
HP:0030192	Fatigable weakness of bulbar muscles	7170	TPM3	ORPHA:171439
HP:0030192	Fatigable weakness of bulbar muscles	7170	TPM3	ORPHA:2020
HP:0030192	Fatigable weakness of bulbar muscles	57190	SELENON	ORPHA:2020
HP:0030192	Fatigable weakness of bulbar muscles	4633	MYL2	ORPHA:2020
HP:0030192	Fatigable weakness of bulbar muscles	3679	ITGA7	ORPHA:2020
HP:0030192	Fatigable weakness of bulbar muscles	9200	HACD1	ORPHA:2020
HP:0030192	Fatigable weakness of bulbar muscles	51776	MAP3K20	ORPHA:2020
HP:0030192	Fatigable weakness of bulbar muscles	29925	GMPPB	ORPHA:363623
HP:0030192	Fatigable weakness of bulbar muscles	25978	CHMP2B	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	3178	HNRNPA1	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	8148	TAF15	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	5445	PON2	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	9217	VAPB	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	8878	SQSTM1	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	5630	PRPH	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	29110	TBK1	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	55830	GLT8D1	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	755	CFAP410	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	10891	PPARGC1A	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	6647	SOD1	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	10133	OPTN	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	1639	DCTN1	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	9896	FIG4	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	5444	PON1	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	5446	PON3	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	4744	NEFH	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	5216	PFN1	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	9782	MATR3	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	54209	TREM2	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	7415	VCP	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	283	ANG	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	23435	TARDBP	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	29978	UBQLN2	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	2733	GLE1	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	2521	FUS	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	4750	NEK1	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	6311	ATXN2	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	1610	DAO	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	2066	ERBB4	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	311	ANXA11	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	23025	UNC13A	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	899	CCNF	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	400916	CHCHD10	ORPHA:803
HP:0030192	Fatigable weakness of bulbar muscles	353116	RILPL1	ORPHA:98897
HP:0030192	Fatigable weakness of bulbar muscles	10755	GIPC1	ORPHA:98897
HP:0030192	Fatigable weakness of bulbar muscles	29967	LRP12	ORPHA:98897
HP:0030192	Fatigable weakness of bulbar muscles	100996717	NOTCH2NLC	ORPHA:98897
HP:0030192	Fatigable weakness of bulbar muscles	122622	ADSS1	ORPHA:482601
HP:0030192	Fatigable weakness of bulbar muscles	55768	NGLY1	ORPHA:404454
HP:0030192	Fatigable weakness of bulbar muscles	22943	DKK1	ORPHA:268882
HP:0030192	Fatigable weakness of bulbar muscles	84334	COA8	ORPHA:436271
HP:0030192	Fatigable weakness of bulbar muscles	84033	OBSCN	ORPHA:99845
HP:0030192	Fatigable weakness of bulbar muscles	23175	LPIN1	ORPHA:99845
HP:0030192	Fatigable weakness of bulbar muscles	4512	MT-CO1	ORPHA:99845
HP:0030192	Fatigable weakness of bulbar muscles	4514	MT-CO3	ORPHA:99845
HP:0030193	Fatigable weakness of chewing muscles	122622	ADSS1	ORPHA:482601
HP:0030194	Fatigable weakness of speech muscles	55768	NGLY1	ORPHA:404454
HP:0030195	Fatigable weakness of swallowing muscles	4534	MTM1	ORPHA:596
HP:0030195	Fatigable weakness of swallowing muscles	22943	DKK1	ORPHA:268882
HP:0030195	Fatigable weakness of swallowing muscles	84334	COA8	ORPHA:436271
HP:0030195	Fatigable weakness of swallowing muscles	84033	OBSCN	ORPHA:99845
HP:0030195	Fatigable weakness of swallowing muscles	23175	LPIN1	ORPHA:99845
HP:0030195	Fatigable weakness of swallowing muscles	4512	MT-CO1	ORPHA:99845
HP:0030195	Fatigable weakness of swallowing muscles	4514	MT-CO3	ORPHA:99845
HP:0030195	Fatigable weakness of swallowing muscles	25978	CHMP2B	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	3178	HNRNPA1	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	8148	TAF15	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	5445	PON2	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	9217	VAPB	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	8878	SQSTM1	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	5630	PRPH	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	29110	TBK1	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	55830	GLT8D1	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	755	CFAP410	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	10891	PPARGC1A	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	6647	SOD1	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	10133	OPTN	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	1639	DCTN1	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	9896	FIG4	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	5444	PON1	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	5446	PON3	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	4744	NEFH	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	5216	PFN1	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	9782	MATR3	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	54209	TREM2	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	7415	VCP	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	283	ANG	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	23435	TARDBP	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	29978	UBQLN2	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	2733	GLE1	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	2521	FUS	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	4750	NEK1	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	6311	ATXN2	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	1610	DAO	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	2066	ERBB4	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	311	ANXA11	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	23025	UNC13A	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	899	CCNF	ORPHA:803
HP:0030195	Fatigable weakness of swallowing muscles	400916	CHCHD10	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	50484	RRM2B	ORPHA:329336
HP:0030196	Fatigable weakness of respiratory muscles	246243	RNASEH1	ORPHA:329336
HP:0030196	Fatigable weakness of respiratory muscles	1674	DES	ORPHA:98909
HP:0030196	Fatigable weakness of respiratory muscles	6329	SCN4A	ORPHA:681
HP:0030196	Fatigable weakness of respiratory muscles	6329	SCN4A	ORPHA:98913
HP:0030196	Fatigable weakness of respiratory muscles	779	CACNA1S	ORPHA:681
HP:0030196	Fatigable weakness of respiratory muscles	10008	KCNE3	ORPHA:681
HP:0030196	Fatigable weakness of respiratory muscles	58	ACTA1	ORPHA:171436
HP:0030196	Fatigable weakness of respiratory muscles	7169	TPM2	ORPHA:171436
HP:0030196	Fatigable weakness of respiratory muscles	4703	NEB	ORPHA:171436
HP:0030196	Fatigable weakness of respiratory muscles	10324	KLHL41	ORPHA:171436
HP:0030196	Fatigable weakness of respiratory muscles	56203	LMOD3	ORPHA:171436
HP:0030196	Fatigable weakness of respiratory muscles	1073	CFL2	ORPHA:171436
HP:0030196	Fatigable weakness of respiratory muscles	25978	CHMP2B	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	3178	HNRNPA1	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	8148	TAF15	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	5445	PON2	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	9217	VAPB	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	8878	SQSTM1	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	5630	PRPH	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	29110	TBK1	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	55830	GLT8D1	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	755	CFAP410	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	10891	PPARGC1A	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	6647	SOD1	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	10133	OPTN	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	1639	DCTN1	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	9896	FIG4	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	5444	PON1	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	5446	PON3	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	4744	NEFH	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	5216	PFN1	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	9782	MATR3	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	54209	TREM2	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	7415	VCP	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	283	ANG	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	23435	TARDBP	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	29978	UBQLN2	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	2733	GLE1	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	2521	FUS	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	4750	NEK1	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	6311	ATXN2	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	1610	DAO	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	2066	ERBB4	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	311	ANXA11	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	23025	UNC13A	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	899	CCNF	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	400916	CHCHD10	ORPHA:803
HP:0030196	Fatigable weakness of respiratory muscles	1134	CHRNA1	ORPHA:98913
HP:0030196	Fatigable weakness of respiratory muscles	4038	LRP4	ORPHA:98913
HP:0030196	Fatigable weakness of respiratory muscles	1305	COL13A1	ORPHA:98913
HP:0030196	Fatigable weakness of respiratory muscles	1140	CHRNB1	ORPHA:98913
HP:0030196	Fatigable weakness of respiratory muscles	1144	CHRND	ORPHA:98913
HP:0030196	Fatigable weakness of respiratory muscles	1145	CHRNE	ORPHA:98913
HP:0030196	Fatigable weakness of respiratory muscles	4593	MUSK	ORPHA:98913
HP:0030196	Fatigable weakness of respiratory muscles	5913	RAPSN	ORPHA:98913
HP:0030196	Fatigable weakness of respiratory muscles	375790	AGRN	ORPHA:98913
HP:0030196	Fatigable weakness of respiratory muscles	221264	AK9	ORPHA:98913
HP:0030196	Fatigable weakness of respiratory muscles	285489	DOK7	ORPHA:98913
HP:0030197	Fatigable weakness of skeletal muscles	51305	KCNK9	ORPHA:166108
HP:0030197	Fatigable weakness of skeletal muscles	6572	SLC18A3	OMIM:617239
HP:0030197	Fatigable weakness of skeletal muscles	1145	CHRNE	OMIM:616324
HP:0030197	Fatigable weakness of skeletal muscles	29925	GMPPB	ORPHA:370968
HP:0030197	Fatigable weakness of skeletal muscles	79147	FKRP	ORPHA:370968
HP:0030197	Fatigable weakness of skeletal muscles	29954	POMT2	ORPHA:370968
HP:0030197	Fatigable weakness of skeletal muscles	29954	POMT2	ORPHA:206559
HP:0030197	Fatigable weakness of skeletal muscles	9215	LARGE1	ORPHA:370968
HP:0030197	Fatigable weakness of skeletal muscles	10585	POMT1	ORPHA:370968
HP:0030197	Fatigable weakness of skeletal muscles	114034	TOE1	ORPHA:284339
HP:0030197	Fatigable weakness of skeletal muscles	9562	MINPP1	ORPHA:284339
HP:0030197	Fatigable weakness of skeletal muscles	58	ACTA1	ORPHA:171436
HP:0030197	Fatigable weakness of skeletal muscles	7169	TPM2	ORPHA:171436
HP:0030197	Fatigable weakness of skeletal muscles	4703	NEB	ORPHA:171436
HP:0030197	Fatigable weakness of skeletal muscles	10324	KLHL41	ORPHA:171436
HP:0030197	Fatigable weakness of skeletal muscles	56203	LMOD3	ORPHA:171436
HP:0030197	Fatigable weakness of skeletal muscles	1073	CFL2	ORPHA:171436
HP:0030197	Fatigable weakness of skeletal muscles	11155	LDB3	ORPHA:98912
HP:0030197	Fatigable weakness of skeletal muscles	3094	HINT1	ORPHA:324442
HP:0030197	Fatigable weakness of skeletal muscles	34	ACADM	ORPHA:42
HP:0030197	Fatigable weakness of skeletal muscles	6329	SCN4A	ORPHA:98913
HP:0030197	Fatigable weakness of skeletal muscles	1134	CHRNA1	ORPHA:98913
HP:0030197	Fatigable weakness of skeletal muscles	4038	LRP4	ORPHA:98913
HP:0030197	Fatigable weakness of skeletal muscles	1305	COL13A1	ORPHA:98913
HP:0030197	Fatigable weakness of skeletal muscles	1140	CHRNB1	ORPHA:98913
HP:0030197	Fatigable weakness of skeletal muscles	1144	CHRND	ORPHA:98913
HP:0030197	Fatigable weakness of skeletal muscles	4593	MUSK	ORPHA:98913
HP:0030197	Fatigable weakness of skeletal muscles	5913	RAPSN	ORPHA:98913
HP:0030197	Fatigable weakness of skeletal muscles	375790	AGRN	ORPHA:98913
HP:0030197	Fatigable weakness of skeletal muscles	221264	AK9	ORPHA:98913
HP:0030197	Fatigable weakness of skeletal muscles	285489	DOK7	ORPHA:98913
HP:0030197	Fatigable weakness of skeletal muscles	10342	TFG	ORPHA:90117
HP:0030197	Fatigable weakness of skeletal muscles	2318	FLNC	ORPHA:63273
HP:0030197	Fatigable weakness of skeletal muscles	84196	USP48	ORPHA:96253
HP:0030197	Fatigable weakness of skeletal muscles	7157	TP53	ORPHA:96253
HP:0030197	Fatigable weakness of skeletal muscles	9101	USP8	ORPHA:96253
HP:0030197	Fatigable weakness of skeletal muscles	64072	CDH23	ORPHA:96253
HP:0030197	Fatigable weakness of skeletal muscles	2908	NR3C1	ORPHA:96253
HP:0030197	Fatigable weakness of skeletal muscles	673	BRAF	ORPHA:96253
HP:0030197	Fatigable weakness of skeletal muscles	546	ATRX	ORPHA:96253
HP:0030197	Fatigable weakness of skeletal muscles	844	CASQ1	ORPHA:2593
HP:0030197	Fatigable weakness of skeletal muscles	84876	ORAI1	ORPHA:2593
HP:0030197	Fatigable weakness of skeletal muscles	6786	STIM1	ORPHA:2593
HP:0030197	Fatigable weakness of skeletal muscles	23345	SYNE1	ORPHA:319332
HP:0030197	Fatigable weakness of skeletal muscles	84665	MYPN	ORPHA:171881
HP:0030197	Fatigable weakness of skeletal muscles	7170	TPM3	ORPHA:171881
HP:0030198	Fatigable weakness of distal limb muscles	58	ACTA1	ORPHA:171436
HP:0030198	Fatigable weakness of distal limb muscles	7169	TPM2	ORPHA:171436
HP:0030198	Fatigable weakness of distal limb muscles	4703	NEB	ORPHA:171436
HP:0030198	Fatigable weakness of distal limb muscles	10324	KLHL41	ORPHA:171436
HP:0030198	Fatigable weakness of distal limb muscles	56203	LMOD3	ORPHA:171436
HP:0030198	Fatigable weakness of distal limb muscles	1073	CFL2	ORPHA:171436
HP:0030198	Fatigable weakness of distal limb muscles	11155	LDB3	ORPHA:98912
HP:0030198	Fatigable weakness of distal limb muscles	3094	HINT1	ORPHA:324442
HP:0030199	Fatigable weakness of neck muscles	34	ACADM	ORPHA:42
HP:0030199	Fatigable weakness of neck muscles	6329	SCN4A	ORPHA:98913
HP:0030199	Fatigable weakness of neck muscles	1134	CHRNA1	ORPHA:98913
HP:0030199	Fatigable weakness of neck muscles	4038	LRP4	ORPHA:98913
HP:0030199	Fatigable weakness of neck muscles	1305	COL13A1	ORPHA:98913
HP:0030199	Fatigable weakness of neck muscles	1140	CHRNB1	ORPHA:98913
HP:0030199	Fatigable weakness of neck muscles	1144	CHRND	ORPHA:98913
HP:0030199	Fatigable weakness of neck muscles	1145	CHRNE	ORPHA:98913
HP:0030199	Fatigable weakness of neck muscles	4593	MUSK	ORPHA:98913
HP:0030199	Fatigable weakness of neck muscles	5913	RAPSN	ORPHA:98913
HP:0030199	Fatigable weakness of neck muscles	375790	AGRN	ORPHA:98913
HP:0030199	Fatigable weakness of neck muscles	221264	AK9	ORPHA:98913
HP:0030199	Fatigable weakness of neck muscles	285489	DOK7	ORPHA:98913
HP:0030173	Peripheral hypermyelination	5376	PMP22	OMIM:118220
HP:0030173	Peripheral hypermyelination	4747	NEFL	OMIM:607734
HP:0030173	Peripheral hypermyelination	6305	SBF1	OMIM:615284
HP:0030173	Peripheral hypermyelination	81846	SBF2	ORPHA:99956
HP:0030173	Peripheral hypermyelination	4359	MPZ	OMIM:118200
HP:0030173	Peripheral hypermyelination	6663	SOX10	OMIM:609136
HP:0030173	Peripheral hypermyelination	8898	MTMR2	OMIM:601382
HP:0030173	Peripheral hypermyelination	1959	EGR2	OMIM:145900
HP:0030173	Peripheral hypermyelination	57716	PRX	OMIM:145900
HP:0004042	Ulnar metaphyseal irregularity	1311	COMP	OMIM:177170
HP:0004042	Ulnar metaphyseal irregularity	1300	COL10A1	ORPHA:174
HP:0004059	Radial club hand	57167	SALL4	ORPHA:959
HP:0004059	Radial club hand	54809	SAMD9	OMIM:617053
HP:0004059	Radial club hand	2737	GLI3	ORPHA:93322
HP:0004058	Hand monodactyly	6910	TBX5	OMIM:142900
HP:0004058	Hand monodactyly	55636	CHD7	OMIM:214800
HP:0004058	Hand monodactyly	1750	DLX6	ORPHA:2440
HP:0004058	Hand monodactyly	7979	SEM1	ORPHA:2440
HP:0004058	Hand monodactyly	8945	BTRC	ORPHA:2440
HP:0004058	Hand monodactyly	8626	TP63	ORPHA:2440
HP:0004058	Hand monodactyly	58513	EPS15L1	ORPHA:2440
HP:0004058	Hand monodactyly	6468	FBXW4	ORPHA:2440
HP:0004058	Hand monodactyly	7480	WNT10B	ORPHA:2440
HP:0004058	Hand monodactyly	1749	DLX5	ORPHA:2440
HP:0004058	Hand monodactyly	727857	BHLHA9	ORPHA:1986
HP:0004057	Mitten deformity	3909	LAMA3	ORPHA:79404
HP:0004057	Mitten deformity	3918	LAMC2	ORPHA:79404
HP:0004057	Mitten deformity	3914	LAMB3	ORPHA:79404
HP:0004057	Mitten deformity	1308	COL17A1	ORPHA:79406
HP:0004057	Mitten deformity	1308	COL17A1	ORPHA:251393
HP:0004057	Mitten deformity	4312	MMP1	ORPHA:79408
HP:0004057	Mitten deformity	1294	COL7A1	ORPHA:79408
HP:0004057	Mitten deformity	1294	COL7A1	ORPHA:79409
HP:0004057	Mitten deformity	1294	COL7A1	OMIM:226600
HP:0004057	Mitten deformity	1294	COL7A1	ORPHA:79410
HP:0004057	Mitten deformity	1294	COL7A1	ORPHA:79411
HP:0004057	Mitten deformity	1294	COL7A1	ORPHA:89842
HP:0004057	Mitten deformity	1832	DSP	OMIM:609638
HP:0004057	Mitten deformity	3852	KRT5	OMIM:619599
HP:0004057	Mitten deformity	3691	ITGB4	ORPHA:251393
HP:0006159	Mesoaxial hand polydactyly	7021	TFAP2B	ORPHA:46627
HP:0006159	Mesoaxial hand polydactyly	11020	IFT27	OMIM:615996
HP:0006159	Mesoaxial hand polydactyly	54585	LZTFL1	OMIM:615994
HP:0006159	Mesoaxial hand polydactyly	8195	MKKS	OMIM:236700
HP:0006159	Mesoaxial hand polydactyly	3239	HOXD13	OMIM:186000
HP:0006159	Mesoaxial hand polydactyly	51776	MAP3K20	OMIM:616890
HP:0006159	Mesoaxial hand polydactyly	317662	FAM149B1	OMIM:618763
HP:0006159	Mesoaxial hand polydactyly	65250	CPLANE1	OMIM:277170
HP:0006159	Mesoaxial hand polydactyly	2737	GLI3	OMIM:146510
HP:0006159	Mesoaxial hand polydactyly	83871	RAB34	OMIM:620718
HP:0006159	Mesoaxial hand polydactyly	2263	FGFR2	OMIM:101400
HP:0006159	Mesoaxial hand polydactyly	7291	TWIST1	OMIM:101400
HP:0006159	Mesoaxial hand polydactyly	22856	CHSY1	ORPHA:363417
HP:0004054	Sclerosis of hand bone	4000	LMNA	ORPHA:79474
HP:0004054	Sclerosis of hand bone	23592	LEMD3	ORPHA:166119
HP:0004054	Sclerosis of hand bone	10682	EBP	OMIM:302960
HP:0004054	Sclerosis of hand bone	10568	SLC34A2	ORPHA:60025
HP:0004054	Sclerosis of hand bone	2697	GJA1	OMIM:218400
HP:0004054	Sclerosis of hand bone	2074	ERCC6	OMIM:133540
HP:0004054	Sclerosis of hand bone	1161	ERCC8	OMIM:216400
HP:0004054	Sclerosis of hand bone	4796	TONSL	ORPHA:93357
HP:0004054	Sclerosis of hand bone	9451	EIF2AK3	OMIM:226980
HP:0004054	Sclerosis of hand bone	7227	TRPS1	OMIM:190350
HP:0004054	Sclerosis of hand bone	10847	SRCAP	OMIM:136140
HP:0004054	Sclerosis of hand bone	55768	NGLY1	ORPHA:404454
HP:0004050	Absent hand	8517	IKBKG	ORPHA:464
HP:0004050	Absent hand	5980	REV3L	ORPHA:570
HP:0004050	Absent hand	23129	PLXND1	ORPHA:570
HP:0004050	Absent hand	64327	LMBR1	OMIM:200500
HP:0004050	Absent hand	64327	LMBR1	ORPHA:931
HP:0004050	Absent hand	1750	DLX6	ORPHA:2440
HP:0004050	Absent hand	7979	SEM1	ORPHA:2440
HP:0004050	Absent hand	8945	BTRC	ORPHA:2440
HP:0004050	Absent hand	8626	TP63	ORPHA:2440
HP:0004050	Absent hand	58513	EPS15L1	ORPHA:2440
HP:0004050	Absent hand	6468	FBXW4	ORPHA:2440
HP:0004050	Absent hand	7480	WNT10B	ORPHA:2440
HP:0004050	Absent hand	1749	DLX5	ORPHA:2440
HP:0004050	Absent hand	3516	RBPJ	ORPHA:974
HP:0004050	Absent hand	4851	NOTCH1	ORPHA:974
HP:0004050	Absent hand	57514	ARHGAP31	ORPHA:974
HP:0004050	Absent hand	57572	DOCK6	ORPHA:974
HP:0004050	Absent hand	285203	EOGT	ORPHA:974
HP:0004050	Absent hand	54567	DLL4	ORPHA:974
HP:0004050	Absent hand	6926	TBX3	ORPHA:3138
HP:0004019	Radial metaphyseal irregularity	1311	COMP	OMIM:177170
HP:0004019	Radial metaphyseal irregularity	1300	COL10A1	ORPHA:174
HP:0004039	Abnormal ulnar metaphysis morphology	6638	SNRPN	ORPHA:177910
HP:0004039	Abnormal ulnar metaphysis morphology	4692	NDN	ORPHA:177910
HP:0004039	Abnormal ulnar metaphysis morphology	54551	MAGEL2	ORPHA:177910
HP:0004039	Abnormal ulnar metaphysis morphology	9401	RECQL4	ORPHA:221016
HP:0004039	Abnormal ulnar metaphysis morphology	1280	COL2A1	ORPHA:85198
HP:0004039	Abnormal ulnar metaphysis morphology	4318	MMP9	ORPHA:1040
HP:0004039	Abnormal ulnar metaphysis morphology	4322	MMP13	ORPHA:1040
HP:0004039	Abnormal ulnar metaphysis morphology	64682	ANAPC1	ORPHA:221008
HP:0004039	Abnormal ulnar metaphysis morphology	1311	COMP	OMIM:177170
HP:0004039	Abnormal ulnar metaphysis morphology	1300	COL10A1	ORPHA:174
HP:0004037	Abnormal ulnar epiphysis morphology	1836	SLC26A2	ORPHA:93307
HP:0004037	Abnormal ulnar epiphysis morphology	633	BGN	OMIM:300106
HP:0004037	Abnormal ulnar epiphysis morphology	1280	COL2A1	OMIM:271700
HP:0004035	Abnormal ulnar styloid process morphology	633	BGN	OMIM:300106
HP:0004035	Abnormal ulnar styloid process morphology	1280	COL2A1	OMIM:271700
HP:0004002	Flattened radial epiphyses	1836	SLC26A2	ORPHA:93307
HP:0004000	Cone-shaped distal radial epiphysis	633	BGN	OMIM:300106
HP:0004015	Abnormal radial metaphysis morphology	1311	COMP	OMIM:177170
HP:0004015	Abnormal radial metaphysis morphology	1300	COL10A1	ORPHA:174
HP:0003999	Abnormality of radial epiphyses	1297	COL9A1	ORPHA:166002
HP:0003999	Abnormality of radial epiphyses	1298	COL9A2	ORPHA:166002
HP:0003999	Abnormality of radial epiphyses	1299	COL9A3	ORPHA:166002
HP:0003999	Abnormality of radial epiphyses	633	BGN	OMIM:300106
HP:0003999	Abnormality of radial epiphyses	1836	SLC26A2	ORPHA:93307
HP:0003999	Abnormality of radial epiphyses	64135	IFIH1	OMIM:182250
HP:0009642	Broad distal phalanx of the thumb	2316	FLNA	OMIM:311300
HP:0009642	Broad distal phalanx of the thumb	2778	GNAS	ORPHA:79443
HP:0009642	Broad distal phalanx of the thumb	2778	GNAS	ORPHA:79444
HP:0009642	Broad distal phalanx of the thumb	2263	FGFR2	OMIM:101200
HP:0009642	Broad distal phalanx of the thumb	3239	HOXD13	OMIM:113200
HP:0009662	Abnormality of the epiphysis of the distal phalanx of the thumb	8200	GDF5	ORPHA:93384
HP:0009662	Abnormality of the epiphysis of the distal phalanx of the thumb	658	BMPR1B	ORPHA:93384
HP:0009650	Short distal phalanx of the thumb	57167	SALL4	ORPHA:959
HP:0009650	Short distal phalanx of the thumb	2316	FLNA	ORPHA:1826
HP:0009650	Short distal phalanx of the thumb	6885	MAP3K7	ORPHA:1826
HP:0009650	Short distal phalanx of the thumb	658	BMPR1B	OMIM:616849
HP:0009650	Short distal phalanx of the thumb	5293	PIK3CD	ORPHA:221139
HP:0009650	Short distal phalanx of the thumb	90417	KNSTRN	ORPHA:221139
HP:0009650	Short distal phalanx of the thumb	2778	GNAS	ORPHA:79445
HP:0009650	Short distal phalanx of the thumb	5727	PTCH1	OMIM:109400
HP:0009617	Abnormality of the distal phalanx of the thumb	1836	SLC26A2	ORPHA:56304
HP:0009617	Abnormality of the distal phalanx of the thumb	1836	SLC26A2	OMIM:256050
HP:0009617	Abnormality of the distal phalanx of the thumb	1836	SLC26A2	OMIM:222600
HP:0009617	Abnormality of the distal phalanx of the thumb	1836	SLC26A2	ORPHA:628
HP:0009617	Abnormality of the distal phalanx of the thumb	79796	ALG9	ORPHA:79328
HP:0009617	Abnormality of the distal phalanx of the thumb	23019	CNOT1	OMIM:618500
HP:0009617	Abnormality of the distal phalanx of the thumb	54928	BPNT2	OMIM:614078
HP:0009617	Abnormality of the distal phalanx of the thumb	22858	CILK1	OMIM:612651
HP:0009617	Abnormality of the distal phalanx of the thumb	1954	MEGF8	OMIM:614976
HP:0009617	Abnormality of the distal phalanx of the thumb	2317	FLNB	OMIM:108721
HP:0009617	Abnormality of the distal phalanx of the thumb	22856	CHSY1	OMIM:605282
HP:0009617	Abnormality of the distal phalanx of the thumb	2737	GLI3	OMIM:174700
HP:0009617	Abnormality of the distal phalanx of the thumb	2033	EP300	OMIM:180849
HP:0009617	Abnormality of the distal phalanx of the thumb	1387	CREBBP	OMIM:180849
HP:0009617	Abnormality of the distal phalanx of the thumb	2735	GLI1	OMIM:174400
HP:0009617	Abnormality of the distal phalanx of the thumb	8200	GDF5	ORPHA:93384
HP:0009617	Abnormality of the distal phalanx of the thumb	55012	PPP2R3C	OMIM:618419
HP:0009617	Abnormality of the distal phalanx of the thumb	374654	KIF7	OMIM:200990
HP:0009617	Abnormality of the distal phalanx of the thumb	5053	PAH	ORPHA:2209
HP:0009617	Abnormality of the distal phalanx of the thumb	124583	CANT1	OMIM:251450
HP:0009617	Abnormality of the distal phalanx of the thumb	1855	DVL1	OMIM:616331
HP:0009617	Abnormality of the distal phalanx of the thumb	55280	CWF19L1	ORPHA:453521
HP:0009617	Abnormality of the distal phalanx of the thumb	3549	IHH	OMIM:112500
HP:0009617	Abnormality of the distal phalanx of the thumb	3549	IHH	OMIM:607778
HP:0009617	Abnormality of the distal phalanx of the thumb	658	BMPR1B	OMIM:616849
HP:0009617	Abnormality of the distal phalanx of the thumb	90459	ERI1	OMIM:620662
HP:0009617	Abnormality of the distal phalanx of the thumb	2316	FLNA	OMIM:311300
HP:0009617	Abnormality of the distal phalanx of the thumb	2778	GNAS	ORPHA:79443
HP:0009617	Abnormality of the distal phalanx of the thumb	2778	GNAS	ORPHA:79444
HP:0009617	Abnormality of the distal phalanx of the thumb	2263	FGFR2	OMIM:101200
HP:0009617	Abnormality of the distal phalanx of the thumb	3239	HOXD13	OMIM:113200
HP:0009617	Abnormality of the distal phalanx of the thumb	3756	KCNH1	ORPHA:420561
HP:0009617	Abnormality of the distal phalanx of the thumb	57167	SALL4	ORPHA:959
HP:0009617	Abnormality of the distal phalanx of the thumb	6885	MAP3K7	ORPHA:1826
HP:0009617	Abnormality of the distal phalanx of the thumb	5293	PIK3CD	ORPHA:221139
HP:0009617	Abnormality of the distal phalanx of the thumb	90417	KNSTRN	ORPHA:221139
HP:0009617	Abnormality of the distal phalanx of the thumb	5727	PTCH1	OMIM:109400
HP:0009617	Abnormality of the distal phalanx of the thumb	10262	SF3B4	OMIM:154400
HP:0009617	Abnormality of the distal phalanx of the thumb	9898	UBAP2L	OMIM:620494
HP:0009660	Short phalanx of the thumb	3549	IHH	OMIM:112500
HP:0009660	Short phalanx of the thumb	3549	IHH	OMIM:607778
HP:0009660	Short phalanx of the thumb	658	BMPR1B	OMIM:616849
HP:0009660	Short phalanx of the thumb	90459	ERI1	OMIM:620662
HP:0009660	Short phalanx of the thumb	57167	SALL4	ORPHA:959
HP:0009660	Short phalanx of the thumb	2316	FLNA	ORPHA:1826
HP:0009660	Short phalanx of the thumb	6885	MAP3K7	ORPHA:1826
HP:0009660	Short phalanx of the thumb	5293	PIK3CD	ORPHA:221139
HP:0009660	Short phalanx of the thumb	90417	KNSTRN	ORPHA:221139
HP:0009660	Short phalanx of the thumb	2778	GNAS	ORPHA:79445
HP:0009660	Short phalanx of the thumb	5727	PTCH1	OMIM:109400
HP:0009660	Short phalanx of the thumb	3756	KCNH1	ORPHA:420561
HP:0009660	Short phalanx of the thumb	2535	FZD2	OMIM:164745
HP:0009660	Short phalanx of the thumb	2535	FZD2	ORPHA:93328
HP:0009660	Short phalanx of the thumb	23476	BRD4	ORPHA:199
HP:0009660	Short phalanx of the thumb	23476	BRD4	OMIM:620568
HP:0009660	Short phalanx of the thumb	9126	SMC3	ORPHA:199
HP:0009660	Short phalanx of the thumb	8243	SMC1A	ORPHA:199
HP:0009660	Short phalanx of the thumb	6878	TAF6	ORPHA:199
HP:0009660	Short phalanx of the thumb	25836	NIPBL	ORPHA:199
HP:0009660	Short phalanx of the thumb	55869	HDAC8	ORPHA:199
HP:0009660	Short phalanx of the thumb	5885	RAD21	ORPHA:199
HP:0009660	Short phalanx of the thumb	90	ACVR1	OMIM:135100
HP:0009660	Short phalanx of the thumb	57020	VPS35L	OMIM:619135
HP:0009660	Short phalanx of the thumb	10262	SF3B4	OMIM:154400
HP:0009660	Short phalanx of the thumb	8200	GDF5	OMIM:615072
HP:0009660	Short phalanx of the thumb	8200	GDF5	ORPHA:63442
HP:0009660	Short phalanx of the thumb	8200	GDF5	OMIM:113100
HP:0009660	Short phalanx of the thumb	9241	NOG	OMIM:186570
HP:0009660	Short phalanx of the thumb	9241	NOG	OMIM:611377
HP:0009660	Short phalanx of the thumb	6091	ROBO1	OMIM:620305
HP:0009660	Short phalanx of the thumb	3209	HOXA13	OMIM:140000
HP:0009660	Short phalanx of the thumb	3209	HOXA13	ORPHA:2438
HP:0009660	Short phalanx of the thumb	6910	TBX5	OMIM:142900
HP:0009660	Short phalanx of the thumb	10847	SRCAP	OMIM:136140
HP:0009660	Short phalanx of the thumb	55215	FANCI	OMIM:609053
HP:0009660	Short phalanx of the thumb	6662	SOX9	OMIM:114290
HP:0009660	Short phalanx of the thumb	5116	PCNT	OMIM:210720
HP:0009660	Short phalanx of the thumb	26040	SETBP1	OMIM:269150
HP:0009660	Short phalanx of the thumb	26040	SETBP1	ORPHA:798
HP:0009660	Short phalanx of the thumb	388015	RTL1	ORPHA:96334
HP:0009660	Short phalanx of the thumb	8788	DLK1	ORPHA:96334
HP:0009660	Short phalanx of the thumb	55384	MEG3	ORPHA:96334
HP:0009660	Short phalanx of the thumb	3911	LAMA5	OMIM:620076
HP:0009660	Short phalanx of the thumb	124583	CANT1	OMIM:251450
HP:0009656	Symphalangism of the thumb	10262	SF3B4	OMIM:154400
HP:0009656	Symphalangism of the thumb	9898	UBAP2L	OMIM:620494
HP:0009659	Partial absence of thumb	2263	FGFR2	OMIM:149730
HP:0009659	Partial absence of thumb	7204	TRIO	ORPHA:476126
HP:0009659	Partial absence of thumb	6910	TBX5	OMIM:142900
HP:0009659	Partial absence of thumb	7516	XRCC2	OMIM:617247
HP:0009659	Partial absence of thumb	2177	FANCD2	OMIM:227646
HP:0009659	Partial absence of thumb	9896	FIG4	ORPHA:3472
HP:0009659	Partial absence of thumb	55697	VAC14	ORPHA:3472
HP:0009659	Partial absence of thumb	64327	LMBR1	ORPHA:93321
HP:0009659	Partial absence of thumb	6469	SHH	ORPHA:93321
HP:0009602	Abnormality of thumb phalanx	57167	SALL4	ORPHA:233
HP:0009602	Abnormality of thumb phalanx	57167	SALL4	OMIM:147750
HP:0009602	Abnormality of thumb phalanx	57167	SALL4	OMIM:607323
HP:0009602	Abnormality of thumb phalanx	57167	SALL4	ORPHA:959
HP:0009602	Abnormality of thumb phalanx	57167	SALL4	ORPHA:2307
HP:0009602	Abnormality of thumb phalanx	9935	MAFB	ORPHA:233
HP:0009602	Abnormality of thumb phalanx	1123	CHN1	ORPHA:233
HP:0009602	Abnormality of thumb phalanx	7291	TWIST1	ORPHA:794
HP:0009602	Abnormality of thumb phalanx	2263	FGFR2	ORPHA:794
HP:0009602	Abnormality of thumb phalanx	2263	FGFR2	OMIM:149730
HP:0009602	Abnormality of thumb phalanx	2261	FGFR3	ORPHA:794
HP:0009602	Abnormality of thumb phalanx	9488	PIGB	OMIM:618580
HP:0009602	Abnormality of thumb phalanx	10262	SF3B4	OMIM:154400
HP:0009602	Abnormality of thumb phalanx	10262	SF3B4	ORPHA:245
HP:0009602	Abnormality of thumb phalanx	6910	TBX5	ORPHA:392
HP:0009602	Abnormality of thumb phalanx	6910	TBX5	OMIM:142900
HP:0009602	Abnormality of thumb phalanx	6138	RPL15	OMIM:615550
HP:0009602	Abnormality of thumb phalanx	6138	RPL15	ORPHA:124
HP:0009602	Abnormality of thumb phalanx	6135	RPL11	OMIM:612562
HP:0009602	Abnormality of thumb phalanx	6135	RPL11	ORPHA:124
HP:0009602	Abnormality of thumb phalanx	6125	RPL5	OMIM:612561
HP:0009602	Abnormality of thumb phalanx	6125	RPL5	ORPHA:124
HP:0009602	Abnormality of thumb phalanx	64327	LMBR1	ORPHA:2378
HP:0009602	Abnormality of thumb phalanx	64327	LMBR1	OMIM:190605
HP:0009602	Abnormality of thumb phalanx	64327	LMBR1	OMIM:186200
HP:0009602	Abnormality of thumb phalanx	64327	LMBR1	OMIM:135750
HP:0009602	Abnormality of thumb phalanx	64327	LMBR1	ORPHA:93405
HP:0009602	Abnormality of thumb phalanx	526	ATP6V1B2	ORPHA:79500
HP:0009602	Abnormality of thumb phalanx	526	ATP6V1B2	OMIM:124480
HP:0009602	Abnormality of thumb phalanx	526	ATP6V1B2	ORPHA:79499
HP:0009602	Abnormality of thumb phalanx	57465	TBC1D24	ORPHA:79500
HP:0009602	Abnormality of thumb phalanx	57465	TBC1D24	OMIM:220500
HP:0009602	Abnormality of thumb phalanx	2737	GLI3	ORPHA:36
HP:0009602	Abnormality of thumb phalanx	2737	GLI3	OMIM:174200
HP:0009602	Abnormality of thumb phalanx	374654	KIF7	ORPHA:36
HP:0009602	Abnormality of thumb phalanx	6299	SALL1	OMIM:107480
HP:0009602	Abnormality of thumb phalanx	6299	SALL1	ORPHA:857
HP:0009602	Abnormality of thumb phalanx	51339	DACT1	ORPHA:857
HP:0009602	Abnormality of thumb phalanx	1749	DLX5	OMIM:183600
HP:0009602	Abnormality of thumb phalanx	4488	MSX2	OMIM:604757
HP:0009602	Abnormality of thumb phalanx	672	BRCA1	ORPHA:84
HP:0009602	Abnormality of thumb phalanx	10459	MAD2L2	ORPHA:84
HP:0009602	Abnormality of thumb phalanx	7516	XRCC2	ORPHA:84
HP:0009602	Abnormality of thumb phalanx	29089	UBE2T	ORPHA:84
HP:0009602	Abnormality of thumb phalanx	675	BRCA2	ORPHA:84
HP:0009602	Abnormality of thumb phalanx	55120	FANCL	ORPHA:84
HP:0009602	Abnormality of thumb phalanx	2177	FANCD2	ORPHA:84
HP:0009602	Abnormality of thumb phalanx	2175	FANCA	ORPHA:84
HP:0009602	Abnormality of thumb phalanx	2187	FANCB	ORPHA:84
HP:0009602	Abnormality of thumb phalanx	2176	FANCC	ORPHA:84
HP:0009602	Abnormality of thumb phalanx	2178	FANCE	ORPHA:84
HP:0009602	Abnormality of thumb phalanx	2188	FANCF	ORPHA:84
HP:0009602	Abnormality of thumb phalanx	2189	FANCG	ORPHA:84
HP:0009602	Abnormality of thumb phalanx	5888	RAD51	ORPHA:84
HP:0009602	Abnormality of thumb phalanx	5889	RAD51C	ORPHA:84
HP:0009602	Abnormality of thumb phalanx	55159	RFWD3	ORPHA:84
HP:0009602	Abnormality of thumb phalanx	83990	BRIP1	ORPHA:84
HP:0009602	Abnormality of thumb phalanx	57697	FANCM	ORPHA:84
HP:0009602	Abnormality of thumb phalanx	79728	PALB2	ORPHA:84
HP:0009602	Abnormality of thumb phalanx	84464	SLX4	ORPHA:84
HP:0009602	Abnormality of thumb phalanx	2072	ERCC4	ORPHA:84
HP:0009602	Abnormality of thumb phalanx	55215	FANCI	ORPHA:84
HP:0009602	Abnormality of thumb phalanx	8626	TP63	OMIM:605289
HP:0009602	Abnormality of thumb phalanx	6223	RPS19	OMIM:105650
HP:0009602	Abnormality of thumb phalanx	6223	RPS19	ORPHA:124
HP:0009602	Abnormality of thumb phalanx	6224	RPS20	ORPHA:124
HP:0009602	Abnormality of thumb phalanx	6165	RPL35A	ORPHA:124
HP:0009602	Abnormality of thumb phalanx	6132	RPL8	ORPHA:124
HP:0009602	Abnormality of thumb phalanx	6232	RPS27	ORPHA:124
HP:0009602	Abnormality of thumb phalanx	55027	HEATR3	ORPHA:124
HP:0009602	Abnormality of thumb phalanx	6160	RPL31	ORPHA:124
HP:0009602	Abnormality of thumb phalanx	6201	RPS7	ORPHA:124
HP:0009602	Abnormality of thumb phalanx	6155	RPL27	ORPHA:124
HP:0009602	Abnormality of thumb phalanx	6234	RPS28	ORPHA:124
HP:0009602	Abnormality of thumb phalanx	6229	RPS24	ORPHA:124
HP:0009602	Abnormality of thumb phalanx	6204	RPS10	ORPHA:124
HP:0009602	Abnormality of thumb phalanx	2623	GATA1	ORPHA:124
HP:0009602	Abnormality of thumb phalanx	6133	RPL9	ORPHA:124
HP:0009602	Abnormality of thumb phalanx	6231	RPS26	ORPHA:124
HP:0009602	Abnormality of thumb phalanx	11224	RPL35	ORPHA:124
HP:0009602	Abnormality of thumb phalanx	6218	RPS17	ORPHA:124
HP:0009602	Abnormality of thumb phalanx	6154	RPL26	ORPHA:124
HP:0009602	Abnormality of thumb phalanx	6210	RPS15A	ORPHA:124
HP:0009602	Abnormality of thumb phalanx	90121	TSR2	ORPHA:124
HP:0009602	Abnormality of thumb phalanx	6141	RPL18	ORPHA:124
HP:0009602	Abnormality of thumb phalanx	6235	RPS29	ORPHA:124
HP:0009602	Abnormality of thumb phalanx	51816	ADA2	ORPHA:124
HP:0009602	Abnormality of thumb phalanx	6469	SHH	ORPHA:93405
HP:0009602	Abnormality of thumb phalanx	3782	KCNN3	OMIM:618658
HP:0009602	Abnormality of thumb phalanx	9469	CHST3	OMIM:245600
HP:0009602	Abnormality of thumb phalanx	26229	B3GAT3	OMIM:245600
HP:0009602	Abnormality of thumb phalanx	126792	B3GALT6	OMIM:615349
HP:0009602	Abnormality of thumb phalanx	126792	B3GALT6	OMIM:271640
HP:0009602	Abnormality of thumb phalanx	1836	SLC26A2	ORPHA:56304
HP:0009602	Abnormality of thumb phalanx	1836	SLC26A2	OMIM:256050
HP:0009602	Abnormality of thumb phalanx	1836	SLC26A2	OMIM:222600
HP:0009602	Abnormality of thumb phalanx	1836	SLC26A2	ORPHA:628
HP:0009602	Abnormality of thumb phalanx	79796	ALG9	ORPHA:79328
HP:0009602	Abnormality of thumb phalanx	54928	BPNT2	OMIM:614078
HP:0009602	Abnormality of thumb phalanx	22858	CILK1	OMIM:612651
HP:0009602	Abnormality of thumb phalanx	5281	PIGF	OMIM:619356
HP:0009602	Abnormality of thumb phalanx	2735	GLI1	OMIM:174400
HP:0009602	Abnormality of thumb phalanx	3981	LIG4	ORPHA:235
HP:0009602	Abnormality of thumb phalanx	54888	NSUN2	ORPHA:235
HP:0009602	Abnormality of thumb phalanx	6608	SMO	ORPHA:1553
HP:0009602	Abnormality of thumb phalanx	55012	PPP2R3C	OMIM:618419
HP:0009602	Abnormality of thumb phalanx	5053	PAH	ORPHA:2209
HP:0009602	Abnormality of thumb phalanx	124583	CANT1	OMIM:251450
HP:0009602	Abnormality of thumb phalanx	55280	CWF19L1	ORPHA:453521
HP:0009602	Abnormality of thumb phalanx	3549	IHH	OMIM:112500
HP:0009602	Abnormality of thumb phalanx	3549	IHH	OMIM:607778
HP:0009602	Abnormality of thumb phalanx	658	BMPR1B	OMIM:616849
HP:0009602	Abnormality of thumb phalanx	90459	ERI1	OMIM:620662
HP:0009602	Abnormality of thumb phalanx	10084	PQBP1	OMIM:309500
HP:0009602	Abnormality of thumb phalanx	4841	NONO	OMIM:300967
HP:0009602	Abnormality of thumb phalanx	2778	GNAS	ORPHA:79443
HP:0009602	Abnormality of thumb phalanx	2778	GNAS	ORPHA:79444
HP:0009602	Abnormality of thumb phalanx	3239	HOXD13	OMIM:113200
HP:0009602	Abnormality of thumb phalanx	5293	PIK3CD	ORPHA:221139
HP:0009602	Abnormality of thumb phalanx	90417	KNSTRN	ORPHA:221139
HP:0009602	Abnormality of thumb phalanx	5727	PTCH1	OMIM:109400
HP:0009602	Abnormality of thumb phalanx	9898	UBAP2L	OMIM:620494
HP:0009602	Abnormality of thumb phalanx	23019	CNOT1	ORPHA:556955
HP:0009602	Abnormality of thumb phalanx	7204	TRIO	ORPHA:476126
HP:0009602	Abnormality of thumb phalanx	2703	GJA8	OMIM:612474
HP:0009602	Abnormality of thumb phalanx	2702	GJA5	OMIM:612474
HP:0009602	Abnormality of thumb phalanx	2255	FGF10	ORPHA:2363
HP:0009602	Abnormality of thumb phalanx	22856	CHSY1	ORPHA:363417
HP:0009602	Abnormality of thumb phalanx	71	ACTG1	ORPHA:2995
HP:0009602	Abnormality of thumb phalanx	60	ACTB	ORPHA:2995
HP:0009602	Abnormality of thumb phalanx	157570	ESCO2	ORPHA:3103
HP:0009602	Abnormality of thumb phalanx	6472	SHMT2	OMIM:619121
HP:0009602	Abnormality of thumb phalanx	8260	NAA10	ORPHA:568
HP:0009602	Abnormality of thumb phalanx	54880	BCOR	ORPHA:568
HP:0009602	Abnormality of thumb phalanx	57122	NUP107	OMIM:616730
HP:0009602	Abnormality of thumb phalanx	57122	NUP107	OMIM:618348
HP:0009602	Abnormality of thumb phalanx	10992	SF3B2	OMIM:164210
HP:0009602	Abnormality of thumb phalanx	27152	INTU	OMIM:617926
HP:0009602	Abnormality of thumb phalanx	2535	FZD2	OMIM:164745
HP:0009602	Abnormality of thumb phalanx	2535	FZD2	ORPHA:93328
HP:0009602	Abnormality of thumb phalanx	23476	BRD4	ORPHA:199
HP:0009602	Abnormality of thumb phalanx	23476	BRD4	OMIM:620568
HP:0009602	Abnormality of thumb phalanx	9126	SMC3	ORPHA:199
HP:0009602	Abnormality of thumb phalanx	8243	SMC1A	ORPHA:199
HP:0009602	Abnormality of thumb phalanx	6878	TAF6	ORPHA:199
HP:0009602	Abnormality of thumb phalanx	25836	NIPBL	ORPHA:199
HP:0009602	Abnormality of thumb phalanx	55869	HDAC8	ORPHA:199
HP:0009602	Abnormality of thumb phalanx	5885	RAD21	ORPHA:199
HP:0009602	Abnormality of thumb phalanx	90	ACVR1	OMIM:135100
HP:0009602	Abnormality of thumb phalanx	57020	VPS35L	OMIM:619135
HP:0009602	Abnormality of thumb phalanx	6091	ROBO1	OMIM:620305
HP:0009602	Abnormality of thumb phalanx	3209	HOXA13	OMIM:140000
HP:0009602	Abnormality of thumb phalanx	3209	HOXA13	ORPHA:2438
HP:0009602	Abnormality of thumb phalanx	6662	SOX9	OMIM:114290
HP:0009602	Abnormality of thumb phalanx	5116	PCNT	OMIM:210720
HP:0009602	Abnormality of thumb phalanx	26040	SETBP1	OMIM:269150
HP:0009602	Abnormality of thumb phalanx	26040	SETBP1	ORPHA:798
HP:0009602	Abnormality of thumb phalanx	388015	RTL1	ORPHA:96334
HP:0009602	Abnormality of thumb phalanx	8788	DLK1	ORPHA:96334
HP:0009602	Abnormality of thumb phalanx	55384	MEG3	ORPHA:96334
HP:0009602	Abnormality of thumb phalanx	3911	LAMA5	OMIM:620076
HP:0009602	Abnormality of thumb phalanx	9896	FIG4	ORPHA:3472
HP:0009602	Abnormality of thumb phalanx	55697	VAC14	ORPHA:3472
HP:0009602	Abnormality of thumb phalanx	1280	COL2A1	OMIM:271700
HP:0009602	Abnormality of thumb phalanx	22827	PUF60	ORPHA:508498
HP:0009602	Abnormality of thumb phalanx	23394	ADNP	ORPHA:404448
HP:0009602	Abnormality of thumb phalanx	6477	SIAH1	OMIM:619314
HP:0009602	Abnormality of thumb phalanx	10059	DNM1L	OMIM:614388
HP:0009602	Abnormality of thumb phalanx	6885	MAP3K7	OMIM:617137
HP:0009602	Abnormality of thumb phalanx	6885	MAP3K7	ORPHA:1826
HP:0009602	Abnormality of thumb phalanx	23314	SATB2	ORPHA:251028
HP:0009602	Abnormality of thumb phalanx	23314	SATB2	ORPHA:251019
HP:0009602	Abnormality of thumb phalanx	23314	SATB2	ORPHA:576283
HP:0009602	Abnormality of thumb phalanx	9241	NOG	OMIM:184460
HP:0009602	Abnormality of thumb phalanx	9241	NOG	ORPHA:3237
HP:0009602	Abnormality of thumb phalanx	10847	SRCAP	OMIM:136140
HP:0009602	Abnormality of thumb phalanx	1387	CREBBP	ORPHA:353281
HP:0009602	Abnormality of thumb phalanx	1387	CREBBP	OMIM:180849
HP:0009602	Abnormality of thumb phalanx	1387	CREBBP	ORPHA:353277
HP:0009602	Abnormality of thumb phalanx	650	BMP2	ORPHA:261295
HP:0009602	Abnormality of thumb phalanx	3020	H3-3A	OMIM:619720
HP:0009602	Abnormality of thumb phalanx	29998	BICRA	OMIM:619325
HP:0009602	Abnormality of thumb phalanx	3021	H3-3B	OMIM:619721
HP:0009602	Abnormality of thumb phalanx	4920	ROR2	OMIM:113000
HP:0009602	Abnormality of thumb phalanx	4920	ROR2	ORPHA:1507
HP:0009602	Abnormality of thumb phalanx	4920	ROR2	OMIM:268310
HP:0009602	Abnormality of thumb phalanx	1855	DVL1	OMIM:616331
HP:0009602	Abnormality of thumb phalanx	1855	DVL1	OMIM:180700
HP:0009602	Abnormality of thumb phalanx	473	RERE	OMIM:616975
HP:0009602	Abnormality of thumb phalanx	8239	USP9X	OMIM:300919
HP:0009602	Abnormality of thumb phalanx	2033	EP300	ORPHA:353284
HP:0009602	Abnormality of thumb phalanx	2033	EP300	OMIM:180849
HP:0009602	Abnormality of thumb phalanx	2033	EP300	OMIM:613684
HP:0009602	Abnormality of thumb phalanx	3248	HPGD	ORPHA:217059
HP:0009602	Abnormality of thumb phalanx	176	ACAN	OMIM:612813
HP:0009602	Abnormality of thumb phalanx	176	ACAN	ORPHA:171866
HP:0009602	Abnormality of thumb phalanx	2239	GPC4	OMIM:301026
HP:0009602	Abnormality of thumb phalanx	2239	GPC4	ORPHA:2662
HP:0009602	Abnormality of thumb phalanx	2239	GPC4	ORPHA:373
HP:0009602	Abnormality of thumb phalanx	2239	GPC4	OMIM:312870
HP:0009602	Abnormality of thumb phalanx	51132	RLIM	OMIM:300978
HP:0009602	Abnormality of thumb phalanx	64359	NXN	OMIM:618529
HP:0009602	Abnormality of thumb phalanx	64359	NXN	ORPHA:1507
HP:0009602	Abnormality of thumb phalanx	92579	G6PC3	OMIM:612541
HP:0009602	Abnormality of thumb phalanx	64131	XYLT1	OMIM:615777
HP:0009602	Abnormality of thumb phalanx	64131	XYLT1	ORPHA:370930
HP:0009602	Abnormality of thumb phalanx	29920	PYCR2	ORPHA:481152
HP:0009602	Abnormality of thumb phalanx	2260	FGFR1	ORPHA:93258
HP:0009602	Abnormality of thumb phalanx	2260	FGFR1	OMIM:166250
HP:0009602	Abnormality of thumb phalanx	2260	FGFR1	OMIM:101600
HP:0009602	Abnormality of thumb phalanx	64093	SMOC1	ORPHA:1106
HP:0009602	Abnormality of thumb phalanx	2626	GATA4	ORPHA:251071
HP:0009602	Abnormality of thumb phalanx	8726	EED	OMIM:617561
HP:0009602	Abnormality of thumb phalanx	5718	PSMD12	ORPHA:529962
HP:0009602	Abnormality of thumb phalanx	2186	BPTF	ORPHA:529962
HP:0009602	Abnormality of thumb phalanx	4212	MEIS2	OMIM:600987
HP:0009602	Abnormality of thumb phalanx	1954	MEGF8	OMIM:614976
HP:0009602	Abnormality of thumb phalanx	1954	MEGF8	ORPHA:65759
HP:0009602	Abnormality of thumb phalanx	51715	RAB23	ORPHA:65759
HP:0009602	Abnormality of thumb phalanx	5728	PTEN	ORPHA:79076
HP:0009602	Abnormality of thumb phalanx	5728	PTEN	ORPHA:109
HP:0009602	Abnormality of thumb phalanx	657	BMPR1A	ORPHA:79076
HP:0009602	Abnormality of thumb phalanx	8200	GDF5	ORPHA:3237
HP:0009602	Abnormality of thumb phalanx	2254	FGF9	ORPHA:3237
HP:0009602	Abnormality of thumb phalanx	2254	FGF9	OMIM:612961
HP:0009602	Abnormality of thumb phalanx	23126	POGZ	OMIM:616364
HP:0009602	Abnormality of thumb phalanx	51633	OTUD6B	OMIM:617452
HP:0009602	Abnormality of thumb phalanx	51633	OTUD6B	ORPHA:505237
HP:0009602	Abnormality of thumb phalanx	5593	PRKG2	OMIM:619638
HP:0009602	Abnormality of thumb phalanx	79753	SNIP1	OMIM:614501
HP:0009602	Abnormality of thumb phalanx	9968	MED12	OMIM:309520
HP:0009602	Abnormality of thumb phalanx	9968	MED12	OMIM:305450
HP:0009602	Abnormality of thumb phalanx	80036	TRPM3	OMIM:620224
HP:0009602	Abnormality of thumb phalanx	2317	FLNB	ORPHA:503
HP:0009602	Abnormality of thumb phalanx	285362	SUMF1	OMIM:272200
HP:0009602	Abnormality of thumb phalanx	285362	SUMF1	ORPHA:585
HP:0009602	Abnormality of thumb phalanx	79759	ZNF668	OMIM:620194
HP:0009602	Abnormality of thumb phalanx	10236	HNRNPR	OMIM:620073
HP:0009602	Abnormality of thumb phalanx	284252	KCTD1	OMIM:181270
HP:0009602	Abnormality of thumb phalanx	1857	DVL3	OMIM:616894
HP:0009602	Abnormality of thumb phalanx	8481	OFD1	OMIM:300209
HP:0009602	Abnormality of thumb phalanx	56098	PCDHGC4	OMIM:619880
HP:0009602	Abnormality of thumb phalanx	2316	FLNA	OMIM:304120
HP:0009602	Abnormality of thumb phalanx	2316	FLNA	ORPHA:1826
HP:0009602	Abnormality of thumb phalanx	3756	KCNH1	ORPHA:420561
HP:0009602	Abnormality of thumb phalanx	3756	KCNH1	OMIM:611816
HP:0009602	Abnormality of thumb phalanx	2719	GPC3	ORPHA:373
HP:0009602	Abnormality of thumb phalanx	2719	GPC3	OMIM:312870
HP:0009602	Abnormality of thumb phalanx	4123	MAN2C1	OMIM:619775
HP:0009602	Abnormality of thumb phalanx	60529	ALX4	ORPHA:60015
HP:0009602	Abnormality of thumb phalanx	79989	IFT56	OMIM:619534
HP:0009602	Abnormality of thumb phalanx	2146	EZH2	OMIM:277590
HP:0009602	Abnormality of thumb phalanx	2146	EZH2	ORPHA:3447
HP:0009602	Abnormality of thumb phalanx	9939	RBM8A	ORPHA:3320
HP:0009602	Abnormality of thumb phalanx	9939	RBM8A	OMIM:274000
HP:0009602	Abnormality of thumb phalanx	7474	WNT5A	OMIM:180700
HP:0009602	Abnormality of thumb phalanx	64324	NSD1	ORPHA:3447
HP:0009602	Abnormality of thumb phalanx	23512	SUZ12	ORPHA:3447
HP:0009602	Abnormality of thumb phalanx	23404	EXOSC2	OMIM:617763
HP:0009602	Abnormality of thumb phalanx	5587	PRKD1	OMIM:617364
HP:0009602	Abnormality of thumb phalanx	3636	INPPL1	ORPHA:2746
HP:0009602	Abnormality of thumb phalanx	55690	PACS1	ORPHA:329224
HP:0009602	Abnormality of thumb phalanx	22907	DHX30	OMIM:617804
HP:0009602	Abnormality of thumb phalanx	865	CBFB	OMIM:620099
HP:0009603	Deviation of the thumb	1836	SLC26A2	ORPHA:56304
HP:0009603	Deviation of the thumb	1836	SLC26A2	OMIM:256050
HP:0009603	Deviation of the thumb	1836	SLC26A2	OMIM:222600
HP:0009603	Deviation of the thumb	1836	SLC26A2	ORPHA:628
HP:0009603	Deviation of the thumb	79796	ALG9	ORPHA:79328
HP:0009603	Deviation of the thumb	23019	CNOT1	OMIM:618500
HP:0009603	Deviation of the thumb	54928	BPNT2	OMIM:614078
HP:0009603	Deviation of the thumb	22858	CILK1	OMIM:612651
HP:0009603	Deviation of the thumb	1954	MEGF8	OMIM:614976
HP:0009603	Deviation of the thumb	2317	FLNB	OMIM:108721
HP:0009603	Deviation of the thumb	22856	CHSY1	OMIM:605282
HP:0009603	Deviation of the thumb	6910	TBX5	OMIM:142900
HP:0009603	Deviation of the thumb	2263	FGFR2	ORPHA:93259
HP:0009603	Deviation of the thumb	23476	BRD4	ORPHA:199
HP:0009603	Deviation of the thumb	9126	SMC3	ORPHA:199
HP:0009603	Deviation of the thumb	9126	SMC3	OMIM:610759
HP:0009603	Deviation of the thumb	8243	SMC1A	ORPHA:199
HP:0009603	Deviation of the thumb	8243	SMC1A	OMIM:300590
HP:0009603	Deviation of the thumb	6878	TAF6	ORPHA:199
HP:0009603	Deviation of the thumb	25836	NIPBL	ORPHA:199
HP:0009603	Deviation of the thumb	25836	NIPBL	OMIM:122470
HP:0009603	Deviation of the thumb	55869	HDAC8	ORPHA:199
HP:0009603	Deviation of the thumb	55869	HDAC8	OMIM:300882
HP:0009603	Deviation of the thumb	5885	RAD21	ORPHA:199
HP:0009603	Deviation of the thumb	9361	LONP1	OMIM:600373
HP:0009603	Deviation of the thumb	58499	ZNF462	ORPHA:502430
HP:0009603	Deviation of the thumb	58499	ZNF462	OMIM:618619
HP:0009603	Deviation of the thumb	579	NKX3-2	OMIM:613330
HP:0009603	Deviation of the thumb	145173	B3GLCT	OMIM:261540
HP:0009603	Deviation of the thumb	998	CDC42	ORPHA:487796
HP:0009603	Deviation of the thumb	998	CDC42	OMIM:616737
HP:0009603	Deviation of the thumb	80232	WDR26	OMIM:617616
HP:0009603	Deviation of the thumb	22800	RRAS2	OMIM:618624
HP:0009603	Deviation of the thumb	3209	HOXA13	OMIM:140000
HP:0009603	Deviation of the thumb	3209	HOXA13	ORPHA:2438
HP:0009603	Deviation of the thumb	90459	ERI1	OMIM:620663
HP:0009603	Deviation of the thumb	157570	ESCO2	ORPHA:3103
HP:0009603	Deviation of the thumb	7547	ZIC3	OMIM:314390
HP:0009603	Deviation of the thumb	2187	FANCB	OMIM:314390
HP:0009603	Deviation of the thumb	8314	BAP1	OMIM:619762
HP:0009603	Deviation of the thumb	6472	SHMT2	OMIM:619121
HP:0009603	Deviation of the thumb	29123	ANKRD11	ORPHA:261250
HP:0009603	Deviation of the thumb	1717	DHCR7	ORPHA:818
HP:0009603	Deviation of the thumb	1717	DHCR7	OMIM:270400
HP:0009603	Deviation of the thumb	118924	FRA10AC1	OMIM:620113
HP:0009603	Deviation of the thumb	51651	PTRH2	OMIM:616263
HP:0009603	Deviation of the thumb	51651	PTRH2	ORPHA:456312
HP:0009603	Deviation of the thumb	5889	RAD51C	OMIM:613390
HP:0009603	Deviation of the thumb	652	BMP4	ORPHA:139471
HP:0009603	Deviation of the thumb	55906	ZC4H2	OMIM:314580
HP:0009603	Deviation of the thumb	9241	NOG	OMIM:611377
HP:0009603	Deviation of the thumb	79087	ALG12	ORPHA:79324
HP:0009603	Deviation of the thumb	3756	KCNH1	OMIM:611816
HP:0009603	Deviation of the thumb	2626	GATA4	ORPHA:251071
HP:0009603	Deviation of the thumb	5965	RECQL	OMIM:620370
HP:0009603	Deviation of the thumb	7020	TFAP2A	OMIM:113620
HP:0009603	Deviation of the thumb	25942	SIN3A	ORPHA:94065
HP:0009603	Deviation of the thumb	25942	SIN3A	OMIM:613406
HP:0009603	Deviation of the thumb	9775	EIF4A3	OMIM:268305
HP:0009603	Deviation of the thumb	672	BRCA1	OMIM:617883
HP:0009603	Deviation of the thumb	8626	TP63	ORPHA:1896
HP:0009603	Deviation of the thumb	10664	CTCF	OMIM:615502
HP:0009603	Deviation of the thumb	9419	CRIPT	OMIM:615789
HP:0009603	Deviation of the thumb	4247	MGAT2	OMIM:212066
HP:0009603	Deviation of the thumb	9343	EFTUD2	OMIM:610536
HP:0009603	Deviation of the thumb	2316	FLNA	ORPHA:90650
HP:0009603	Deviation of the thumb	55027	HEATR3	OMIM:620072
HP:0009600	Thumb contracture	652	BMP4	OMIM:607932
HP:0009600	Thumb contracture	388015	RTL1	ORPHA:96334
HP:0009600	Thumb contracture	8788	DLK1	ORPHA:96334
HP:0009600	Thumb contracture	55384	MEG3	ORPHA:96334
HP:0009600	Thumb contracture	3897	L1CAM	OMIM:307000
HP:0009600	Thumb contracture	1889	ECE1	OMIM:613870
HP:0004060	Trident hand	2261	FGFR3	OMIM:146000
HP:0004060	Trident hand	2261	FGFR3	ORPHA:15
HP:0004060	Trident hand	2261	FGFR3	OMIM:100800
HP:0004060	Trident hand	2137	EXTL3	OMIM:617425
HP:0004060	Trident hand	25871	NEPRO	OMIM:618853
HP:0009638	Short proximal phalanx of thumb	3549	IHH	OMIM:112500
HP:0009638	Short proximal phalanx of thumb	3549	IHH	OMIM:607778
HP:0009638	Short proximal phalanx of thumb	658	BMPR1B	OMIM:616849
HP:0009638	Short proximal phalanx of thumb	90459	ERI1	OMIM:620662
HP:0009608	Complete duplication of proximal phalanx of the thumb	51715	RAB23	OMIM:201000
HP:0009608	Complete duplication of proximal phalanx of the thumb	22856	CHSY1	ORPHA:363417
HP:0009637	Absent proximal phalanx of thumb	2263	FGFR2	OMIM:149730
HP:0009618	Abnormality of the proximal phalanx of the thumb	51715	RAB23	OMIM:201000
HP:0009618	Abnormality of the proximal phalanx of the thumb	22856	CHSY1	ORPHA:363417
HP:0009618	Abnormality of the proximal phalanx of the thumb	2263	FGFR2	OMIM:149730
HP:0009618	Abnormality of the proximal phalanx of the thumb	3549	IHH	OMIM:112500
HP:0009618	Abnormality of the proximal phalanx of the thumb	3549	IHH	OMIM:607778
HP:0009618	Abnormality of the proximal phalanx of the thumb	658	BMPR1B	OMIM:616849
HP:0009618	Abnormality of the proximal phalanx of the thumb	90459	ERI1	OMIM:620662
HP:0009618	Abnormality of the proximal phalanx of the thumb	10084	PQBP1	OMIM:309500
HP:0009618	Abnormality of the proximal phalanx of the thumb	4841	NONO	OMIM:300967
HP:0009618	Abnormality of the proximal phalanx of the thumb	10262	SF3B4	OMIM:154400
HP:0009618	Abnormality of the proximal phalanx of the thumb	9898	UBAP2L	OMIM:620494
HP:0009599	Abnormality of thumb epiphysis	8200	GDF5	ORPHA:93384
HP:0009599	Abnormality of thumb epiphysis	658	BMPR1B	ORPHA:93384
HP:0009599	Abnormality of thumb epiphysis	3756	KCNH1	OMIM:611816
HP:0009380	Finger aplasia	6910	TBX5	OMIM:142900
HP:0009380	Finger aplasia	55636	CHD7	OMIM:214800
HP:0009380	Finger aplasia	1750	DLX6	ORPHA:2440
HP:0009380	Finger aplasia	7979	SEM1	ORPHA:2440
HP:0009380	Finger aplasia	8945	BTRC	ORPHA:2440
HP:0009380	Finger aplasia	8626	TP63	ORPHA:2440
HP:0009380	Finger aplasia	58513	EPS15L1	ORPHA:2440
HP:0009380	Finger aplasia	6468	FBXW4	ORPHA:2440
HP:0009380	Finger aplasia	727857	BHLHA9	ORPHA:1986
HP:0009380	Finger aplasia	2697	GJA1	OMIM:186100
HP:0009380	Finger aplasia	526	ATP6V1B2	OMIM:124480
HP:0009380	Finger aplasia	9742	IFT140	OMIM:266920
HP:0009380	Finger aplasia	6926	TBX3	OMIM:181450
HP:0009380	Finger aplasia	64840	PORCN	OMIM:305600
HP:0009380	Finger aplasia	7480	WNT10B	OMIM:225300
HP:0009380	Finger aplasia	7476	WNT7A	OMIM:228930
HP:0009380	Finger aplasia	7476	WNT7A	ORPHA:2879
HP:0009380	Finger aplasia	7476	WNT7A	OMIM:276820
HP:0009380	Finger aplasia	9401	RECQL4	ORPHA:1225
HP:0009380	Finger aplasia	25836	NIPBL	OMIM:122470
HP:0009380	Finger aplasia	55605	KIF21A	ORPHA:45358
HP:0009380	Finger aplasia	347733	TUBB2B	ORPHA:45358
HP:0009380	Finger aplasia	7846	TUBA1A	ORPHA:45358
HP:0009380	Finger aplasia	401	PHOX2A	ORPHA:45358
HP:0009380	Finger aplasia	10381	TUBB3	ORPHA:45358
HP:0009380	Finger aplasia	84570	COL25A1	ORPHA:45358
HP:0009380	Finger aplasia	6154	RPL26	OMIM:614900
HP:0009380	Finger aplasia	90459	ERI1	OMIM:620663
HP:0009380	Finger aplasia	10262	SF3B4	ORPHA:1788
HP:0009380	Finger aplasia	64093	SMOC1	ORPHA:1106
HP:0009380	Finger aplasia	64093	SMOC1	OMIM:206920
HP:0009380	Finger aplasia	157570	ESCO2	OMIM:268300
HP:0009380	Finger aplasia	1749	DLX5	OMIM:183600
HP:0009380	Finger aplasia	50814	NSDHL	OMIM:308050
HP:0009380	Finger aplasia	2019	EN1	OMIM:619218
HP:0009380	Finger aplasia	658	BMPR1B	OMIM:609441
HP:0009380	Finger aplasia	4750	NEK1	ORPHA:2751
HP:0009380	Finger aplasia	2188	FANCF	OMIM:603467
HP:0009380	Finger aplasia	2177	FANCD2	OMIM:227646
HP:0009380	Finger aplasia	2072	ERCC4	OMIM:615272
HP:0009380	Finger aplasia	5889	RAD51C	OMIM:613390
HP:0009380	Finger aplasia	2176	FANCC	OMIM:227645
HP:0009380	Finger aplasia	55120	FANCL	OMIM:614083
HP:0009380	Finger aplasia	6651	SON	ORPHA:500150
HP:0009380	Finger aplasia	340419	RSPO2	OMIM:618022
HP:0009380	Finger aplasia	2187	FANCB	OMIM:300514
HP:0009380	Finger aplasia	57167	SALL4	OMIM:147750
HP:0009380	Finger aplasia	57167	SALL4	OMIM:607323
HP:0009380	Finger aplasia	84464	SLX4	OMIM:613951
HP:0009380	Finger aplasia	8452	CUL3	OMIM:619239
HP:0009380	Finger aplasia	5718	PSMD12	OMIM:617516
HP:0009380	Finger aplasia	9939	RBM8A	OMIM:274000
HP:0009380	Finger aplasia	6223	RPS19	OMIM:105650
HP:0009380	Finger aplasia	6223	RPS19	ORPHA:124
HP:0009380	Finger aplasia	9896	FIG4	OMIM:216340
HP:0009380	Finger aplasia	9896	FIG4	ORPHA:3472
HP:0009380	Finger aplasia	6138	RPL15	ORPHA:124
HP:0009380	Finger aplasia	6224	RPS20	ORPHA:124
HP:0009380	Finger aplasia	6165	RPL35A	ORPHA:124
HP:0009380	Finger aplasia	6132	RPL8	ORPHA:124
HP:0009380	Finger aplasia	6232	RPS27	ORPHA:124
HP:0009380	Finger aplasia	55027	HEATR3	ORPHA:124
HP:0009380	Finger aplasia	6160	RPL31	ORPHA:124
HP:0009380	Finger aplasia	6201	RPS7	ORPHA:124
HP:0009380	Finger aplasia	6155	RPL27	ORPHA:124
HP:0009380	Finger aplasia	6234	RPS28	ORPHA:124
HP:0009380	Finger aplasia	6135	RPL11	ORPHA:124
HP:0009380	Finger aplasia	6229	RPS24	ORPHA:124
HP:0009380	Finger aplasia	6125	RPL5	ORPHA:124
HP:0009380	Finger aplasia	6204	RPS10	ORPHA:124
HP:0009380	Finger aplasia	2623	GATA1	ORPHA:124
HP:0009380	Finger aplasia	6133	RPL9	ORPHA:124
HP:0009380	Finger aplasia	6231	RPS26	ORPHA:124
HP:0009380	Finger aplasia	11224	RPL35	ORPHA:124
HP:0009380	Finger aplasia	6218	RPS17	ORPHA:124
HP:0009380	Finger aplasia	6210	RPS15A	ORPHA:124
HP:0009380	Finger aplasia	90121	TSR2	ORPHA:124
HP:0009380	Finger aplasia	6141	RPL18	ORPHA:124
HP:0009380	Finger aplasia	6235	RPS29	ORPHA:124
HP:0009380	Finger aplasia	51816	ADA2	ORPHA:124
HP:0009380	Finger aplasia	55697	VAC14	ORPHA:3472
HP:0009380	Finger aplasia	2178	FANCE	OMIM:600901
HP:0009380	Finger aplasia	54101	RIPK4	OMIM:263650
HP:0009380	Finger aplasia	54101	RIPK4	ORPHA:1234
HP:0009380	Finger aplasia	55159	RFWD3	OMIM:617784
HP:0009380	Finger aplasia	5888	RAD51	OMIM:617244
HP:0009380	Finger aplasia	2175	FANCA	OMIM:227650
HP:0009380	Finger aplasia	55215	FANCI	OMIM:609053
HP:0009380	Finger aplasia	7516	XRCC2	OMIM:617247
HP:0009380	Finger aplasia	2263	FGFR2	ORPHA:2363
HP:0009380	Finger aplasia	2261	FGFR3	ORPHA:2363
HP:0009380	Finger aplasia	2255	FGF10	ORPHA:2363
HP:0009380	Finger aplasia	79728	PALB2	OMIM:610832
HP:0009380	Finger aplasia	29980	DONSON	OMIM:251230
HP:0009380	Finger aplasia	64327	LMBR1	ORPHA:93321
HP:0009380	Finger aplasia	6469	SHH	ORPHA:93321
HP:0009380	Finger aplasia	7204	TRIO	ORPHA:476126
HP:0009380	Finger aplasia	1954	MEGF8	OMIM:614976
HP:0009380	Finger aplasia	4000	LMNA	OMIM:610140
HP:0004095	Curved fingers	8239	USP9X	ORPHA:480880
HP:0009465	Ulnar deviation of finger	6910	TBX5	OMIM:142900
HP:0009465	Ulnar deviation of finger	51651	PTRH2	OMIM:616263
HP:0009465	Ulnar deviation of finger	51651	PTRH2	ORPHA:456312
HP:0009465	Ulnar deviation of finger	650	BMP2	OMIM:112600
HP:0009465	Ulnar deviation of finger	3209	HOXA13	OMIM:140000
HP:0009465	Ulnar deviation of finger	29123	ANKRD11	OMIM:148050
HP:0009465	Ulnar deviation of finger	23483	TGDS	OMIM:616145
HP:0009465	Ulnar deviation of finger	1146	CHRNG	OMIM:265000
HP:0009465	Ulnar deviation of finger	4621	MYH3	ORPHA:2053
HP:0009465	Ulnar deviation of finger	4621	MYH3	ORPHA:1147
HP:0009465	Ulnar deviation of finger	4621	MYH3	ORPHA:1146
HP:0009465	Ulnar deviation of finger	259232	NALCN	ORPHA:2053
HP:0009465	Ulnar deviation of finger	259232	NALCN	ORPHA:1147
HP:0009465	Ulnar deviation of finger	259232	NALCN	ORPHA:1146
HP:0009465	Ulnar deviation of finger	7476	WNT7A	OMIM:228930
HP:0009465	Ulnar deviation of finger	84231	TRAF7	OMIM:618164
HP:0009465	Ulnar deviation of finger	7140	TNNT3	ORPHA:1147
HP:0009465	Ulnar deviation of finger	7140	TNNT3	ORPHA:1146
HP:0009465	Ulnar deviation of finger	7169	TPM2	ORPHA:1147
HP:0009465	Ulnar deviation of finger	7169	TPM2	ORPHA:1146
HP:0009465	Ulnar deviation of finger	7136	TNNI2	ORPHA:1147
HP:0009465	Ulnar deviation of finger	7136	TNNI2	ORPHA:1146
HP:0009465	Ulnar deviation of finger	4604	MYBPC1	ORPHA:1146
HP:0009465	Ulnar deviation of finger	22930	RAB3GAP1	ORPHA:1387
HP:0009465	Ulnar deviation of finger	25782	RAB3GAP2	ORPHA:1387
HP:0009465	Ulnar deviation of finger	5077	PAX3	ORPHA:1529
HP:0009465	Ulnar deviation of finger	1836	SLC26A2	ORPHA:628
HP:0009465	Ulnar deviation of finger	1836	SLC26A2	OMIM:222600
HP:0009465	Ulnar deviation of finger	6473	SHOX	ORPHA:2632
HP:0009465	Ulnar deviation of finger	50945	TBX22	ORPHA:921
HP:0009465	Ulnar deviation of finger	3265	HRAS	ORPHA:3071
HP:0009465	Ulnar deviation of finger	613	BCR	ORPHA:261330
HP:0009465	Ulnar deviation of finger	1399	CRKL	ORPHA:261330
HP:0009465	Ulnar deviation of finger	5594	MAPK1	ORPHA:261330
HP:0009465	Ulnar deviation of finger	3977	LIFR	OMIM:601559
HP:0009465	Ulnar deviation of finger	3239	HOXD13	ORPHA:93406
HP:0009465	Ulnar deviation of finger	2201	FBN2	OMIM:121050
HP:0009465	Ulnar deviation of finger	1717	DHCR7	ORPHA:818
HP:0009465	Ulnar deviation of finger	6299	SALL1	ORPHA:857
HP:0009465	Ulnar deviation of finger	51339	DACT1	ORPHA:857
HP:0009465	Ulnar deviation of finger	8200	GDF5	ORPHA:93384
HP:0009465	Ulnar deviation of finger	658	BMPR1B	ORPHA:93384
HP:0009465	Ulnar deviation of finger	10225	CD96	OMIM:211750
HP:0009465	Ulnar deviation of finger	9382	COG1	OMIM:611209
HP:0009465	Ulnar deviation of finger	389827	MYMK	ORPHA:1358
HP:0009465	Ulnar deviation of finger	101929726	MYMX	ORPHA:1358
HP:0004097	Deviation of finger	79796	ALG9	ORPHA:79328
HP:0004097	Deviation of finger	23019	CNOT1	OMIM:618500
HP:0004097	Deviation of finger	54928	BPNT2	OMIM:614078
HP:0004097	Deviation of finger	22858	CILK1	OMIM:612651
HP:0004097	Deviation of finger	8517	IKBKG	ORPHA:464
HP:0004097	Deviation of finger	50964	SOST	OMIM:269500
HP:0004097	Deviation of finger	8200	GDF5	OMIM:228900
HP:0004097	Deviation of finger	51715	RAB23	OMIM:201000
HP:0004097	Deviation of finger	63895	PIEZO2	ORPHA:1154
HP:0004097	Deviation of finger	8481	OFD1	ORPHA:2750
HP:0004097	Deviation of finger	3248	HPGD	ORPHA:1525
HP:0004097	Deviation of finger	11253	MAN1B1	ORPHA:397941
HP:0004097	Deviation of finger	11253	MAN1B1	OMIM:614202
HP:0004097	Deviation of finger	340533	NEXMIF	OMIM:300912
HP:0004097	Deviation of finger	1139	CHRNA7	ORPHA:199318
HP:0004097	Deviation of finger	1139	CHRNA7	OMIM:612001
HP:0004097	Deviation of finger	2132	EXT2	OMIM:616682
HP:0004097	Deviation of finger	23135	KDM6B	OMIM:618505
HP:0004097	Deviation of finger	6659	SOX4	OMIM:618506
HP:0004097	Deviation of finger	1947	EFNB1	ORPHA:1520
HP:0004097	Deviation of finger	1947	EFNB1	OMIM:304110
HP:0004097	Deviation of finger	4010	LMX1B	ORPHA:2614
HP:0004097	Deviation of finger	4010	LMX1B	OMIM:161200
HP:0004097	Deviation of finger	10054	UBA2	OMIM:619959
HP:0004097	Deviation of finger	51126	NAA20	OMIM:619717
HP:0004097	Deviation of finger	2972	BRF1	OMIM:616202
HP:0004097	Deviation of finger	9820	CUL7	ORPHA:2616
HP:0004097	Deviation of finger	9820	CUL7	OMIM:273750
HP:0004097	Deviation of finger	23363	OBSL1	ORPHA:2616
HP:0004097	Deviation of finger	83987	CCDC8	ORPHA:2616
HP:0004097	Deviation of finger	83987	CCDC8	OMIM:614205
HP:0004097	Deviation of finger	7021	TFAP2B	OMIM:169100
HP:0004097	Deviation of finger	7021	TFAP2B	ORPHA:46627
HP:0004097	Deviation of finger	7021	TFAP2B	OMIM:617035
HP:0004097	Deviation of finger	5927	KDM5A	OMIM:620820
HP:0004097	Deviation of finger	3481	IGF2	ORPHA:231140
HP:0004097	Deviation of finger	3481	IGF2	ORPHA:231144
HP:0004097	Deviation of finger	3481	IGF2	OMIM:616489
HP:0004097	Deviation of finger	3481	IGF2	OMIM:180860
HP:0004097	Deviation of finger	3481	IGF2	ORPHA:397590
HP:0004097	Deviation of finger	283120	H19	ORPHA:231140
HP:0004097	Deviation of finger	283120	H19	ORPHA:231144
HP:0004097	Deviation of finger	197131	UBR1	OMIM:243800
HP:0004097	Deviation of finger	5932	RBBP8	OMIM:606744
HP:0004097	Deviation of finger	5932	RBBP8	ORPHA:808
HP:0004097	Deviation of finger	3021	H3-3B	OMIM:619721
HP:0004097	Deviation of finger	4286	MITF	OMIM:617306
HP:0004097	Deviation of finger	23384	SPECC1L	ORPHA:1519
HP:0004097	Deviation of finger	57539	WDR35	ORPHA:1515
HP:0004097	Deviation of finger	112752	IFT43	ORPHA:1515
HP:0004097	Deviation of finger	51098	IFT52	ORPHA:1515
HP:0004097	Deviation of finger	57728	WDR19	ORPHA:1515
HP:0004097	Deviation of finger	55636	CHD7	ORPHA:138
HP:0004097	Deviation of finger	9723	SEMA3E	ORPHA:138
HP:0004097	Deviation of finger	90	ACVR1	OMIM:135100
HP:0004097	Deviation of finger	3190	HNRNPK	OMIM:616580
HP:0004097	Deviation of finger	25885	POLR1A	OMIM:616462
HP:0004097	Deviation of finger	10606	PAICS	OMIM:619859
HP:0004097	Deviation of finger	1009	CDH11	OMIM:619736
HP:0004097	Deviation of finger	64359	NXN	ORPHA:1507
HP:0004097	Deviation of finger	2697	GJA1	ORPHA:2710
HP:0004097	Deviation of finger	7020	TFAP2A	OMIM:113620
HP:0004097	Deviation of finger	727857	BHLHA9	ORPHA:157801
HP:0004097	Deviation of finger	727857	BHLHA9	OMIM:609432
HP:0004097	Deviation of finger	652	BMP4	OMIM:607932
HP:0004097	Deviation of finger	4297	KMT2A	ORPHA:319182
HP:0004097	Deviation of finger	4297	KMT2A	OMIM:605130
HP:0004097	Deviation of finger	1301	COL11A1	OMIM:228520
HP:0004097	Deviation of finger	1301	COL11A1	OMIM:154780
HP:0004097	Deviation of finger	23327	NEDD4L	OMIM:617201
HP:0004097	Deviation of finger	7291	TWIST1	OMIM:101400
HP:0004097	Deviation of finger	7291	TWIST1	ORPHA:794
HP:0004097	Deviation of finger	2783	GNB2	OMIM:619503
HP:0004097	Deviation of finger	3981	LIG4	ORPHA:235
HP:0004097	Deviation of finger	3981	LIG4	ORPHA:99812
HP:0004097	Deviation of finger	3981	LIG4	OMIM:606593
HP:0004097	Deviation of finger	54888	NSUN2	ORPHA:235
HP:0004097	Deviation of finger	1182	CLCN3	OMIM:619512
HP:0004097	Deviation of finger	85301	COL27A1	OMIM:615155
HP:0004097	Deviation of finger	57680	CHD8	OMIM:615032
HP:0004097	Deviation of finger	5048	PAFAH1B1	ORPHA:217385
HP:0004097	Deviation of finger	5048	PAFAH1B1	ORPHA:531
HP:0004097	Deviation of finger	7531	YWHAE	ORPHA:217385
HP:0004097	Deviation of finger	7531	YWHAE	ORPHA:531
HP:0004097	Deviation of finger	2550	GABBR1	OMIM:620502
HP:0004097	Deviation of finger	8364	H4C3	OMIM:619758
HP:0004097	Deviation of finger	5590	PRKCZ	ORPHA:1606
HP:0004097	Deviation of finger	2563	GABRD	ORPHA:1606
HP:0004097	Deviation of finger	23013	SPEN	ORPHA:1606
HP:0004097	Deviation of finger	8510	MMP23B	ORPHA:1606
HP:0004097	Deviation of finger	7798	LUZP1	ORPHA:1606
HP:0004097	Deviation of finger	6497	SKI	ORPHA:1606
HP:0004097	Deviation of finger	10630	PDPN	ORPHA:1606
HP:0004097	Deviation of finger	3339	HSPG2	ORPHA:1606
HP:0004097	Deviation of finger	10277	UBE4B	ORPHA:1606
HP:0004097	Deviation of finger	8514	KCNAB2	ORPHA:1606
HP:0004097	Deviation of finger	473	RERE	ORPHA:1606
HP:0004097	Deviation of finger	473	RERE	OMIM:616975
HP:0004097	Deviation of finger	63976	PRDM16	ORPHA:1606
HP:0004097	Deviation of finger	54897	CASZ1	ORPHA:1606
HP:0004097	Deviation of finger	6134	RPL10	ORPHA:459070
HP:0004097	Deviation of finger	6134	RPL10	OMIM:300998
HP:0004097	Deviation of finger	7750	ZMYM2	OMIM:619522
HP:0004097	Deviation of finger	4849	CNOT3	OMIM:618672
HP:0004097	Deviation of finger	6942	TCF20	OMIM:618430
HP:0004097	Deviation of finger	641	BLM	OMIM:210900
HP:0004097	Deviation of finger	57492	ARID1B	ORPHA:251056
HP:0004097	Deviation of finger	57492	ARID1B	OMIM:135900
HP:0004097	Deviation of finger	23314	SATB2	ORPHA:576283
HP:0004097	Deviation of finger	23314	SATB2	ORPHA:251028
HP:0004097	Deviation of finger	23314	SATB2	ORPHA:251019
HP:0004097	Deviation of finger	2239	GPC4	ORPHA:373
HP:0004097	Deviation of finger	2239	GPC4	ORPHA:2662
HP:0004097	Deviation of finger	2719	GPC3	ORPHA:373
HP:0004097	Deviation of finger	23162	MAPK8IP3	OMIM:618443
HP:0004097	Deviation of finger	23483	TGDS	OMIM:616145
HP:0004097	Deviation of finger	23483	TGDS	ORPHA:1388
HP:0004097	Deviation of finger	57479	PRR12	OMIM:619539
HP:0004097	Deviation of finger	25836	NIPBL	OMIM:122470
HP:0004097	Deviation of finger	25836	NIPBL	ORPHA:199
HP:0004097	Deviation of finger	2317	FLNB	OMIM:272460
HP:0004097	Deviation of finger	1387	CREBBP	OMIM:618332
HP:0004097	Deviation of finger	1387	CREBBP	OMIM:180849
HP:0004097	Deviation of finger	1387	CREBBP	ORPHA:592574
HP:0004097	Deviation of finger	26100	WIPI2	OMIM:618453
HP:0004097	Deviation of finger	10533	ATG7	OMIM:619422
HP:0004097	Deviation of finger	8295	TRRAP	OMIM:618454
HP:0004097	Deviation of finger	9742	IFT140	OMIM:266920
HP:0004097	Deviation of finger	7227	TRPS1	ORPHA:77258
HP:0004097	Deviation of finger	9949	AMMECR1	OMIM:300990
HP:0004097	Deviation of finger	3479	IGF1	ORPHA:73272
HP:0004097	Deviation of finger	3479	IGF1	OMIM:608747
HP:0004097	Deviation of finger	650	BMP2	OMIM:112600
HP:0004097	Deviation of finger	650	BMP2	ORPHA:93396
HP:0004097	Deviation of finger	650	BMP2	OMIM:617877
HP:0004097	Deviation of finger	6477	SIAH1	OMIM:619314
HP:0004097	Deviation of finger	8473	OGT	OMIM:300997
HP:0004097	Deviation of finger	10785	WDR4	OMIM:618347
HP:0004097	Deviation of finger	1798	DPAGT1	OMIM:608093
HP:0004097	Deviation of finger	100151683	RNU4ATAC	ORPHA:353298
HP:0004097	Deviation of finger	100151683	RNU4ATAC	OMIM:226960
HP:0004097	Deviation of finger	100151683	RNU4ATAC	OMIM:616651
HP:0004097	Deviation of finger	100151683	RNU4ATAC	ORPHA:2636
HP:0004097	Deviation of finger	170689	ADAMTS15	OMIM:620545
HP:0004097	Deviation of finger	253738	EBF3	ORPHA:96148
HP:0004097	Deviation of finger	90459	ERI1	OMIM:620663
HP:0004097	Deviation of finger	90459	ERI1	OMIM:620662
HP:0004097	Deviation of finger	4076	CAPRIN1	OMIM:620782
HP:0004097	Deviation of finger	55869	HDAC8	OMIM:300882
HP:0004097	Deviation of finger	55869	HDAC8	ORPHA:199
HP:0004097	Deviation of finger	117581	TWIST2	OMIM:200110
HP:0004097	Deviation of finger	117581	TWIST2	OMIM:209885
HP:0004097	Deviation of finger	23030	KDM4B	OMIM:619320
HP:0004097	Deviation of finger	9126	SMC3	OMIM:610759
HP:0004097	Deviation of finger	9126	SMC3	ORPHA:199
HP:0004097	Deviation of finger	1725	DHPS	OMIM:618480
HP:0004097	Deviation of finger	55777	MBD5	OMIM:156200
HP:0004097	Deviation of finger	55777	MBD5	ORPHA:228402
HP:0004097	Deviation of finger	5980	REV3L	ORPHA:570
HP:0004097	Deviation of finger	23129	PLXND1	ORPHA:570
HP:0004097	Deviation of finger	4784	NFIX	OMIM:602535
HP:0004097	Deviation of finger	4998	ORC1	OMIM:224690
HP:0004097	Deviation of finger	4998	ORC1	ORPHA:2554
HP:0004097	Deviation of finger	4052	LTBP1	OMIM:619451
HP:0004097	Deviation of finger	7468	NSD2	OMIM:619695
HP:0004097	Deviation of finger	23476	BRD4	OMIM:620568
HP:0004097	Deviation of finger	23476	BRD4	ORPHA:199
HP:0004097	Deviation of finger	9496	TBX4	ORPHA:261279
HP:0004097	Deviation of finger	8091	HMGA2	ORPHA:94063
HP:0004097	Deviation of finger	8091	HMGA2	ORPHA:397590
HP:0004097	Deviation of finger	23592	LEMD3	ORPHA:94063
HP:0004097	Deviation of finger	164	AP1G1	OMIM:619467
HP:0004097	Deviation of finger	5283	PIGH	OMIM:618010
HP:0004097	Deviation of finger	1954	MEGF8	ORPHA:65759
HP:0004097	Deviation of finger	1954	MEGF8	OMIM:614976
HP:0004097	Deviation of finger	6874	TAF4	OMIM:620450
HP:0004097	Deviation of finger	50801	KCNK4	OMIM:618381
HP:0004097	Deviation of finger	9757	KMT2B	ORPHA:589618
HP:0004097	Deviation of finger	4613	MYCN	ORPHA:391641
HP:0004097	Deviation of finger	57003	CCDC47	OMIM:618268
HP:0004097	Deviation of finger	8812	CCNK	OMIM:618147
HP:0004097	Deviation of finger	5977	DPF2	OMIM:618027
HP:0004097	Deviation of finger	29895	MYL11	OMIM:619110
HP:0004097	Deviation of finger	94005	PIGS	OMIM:618143
HP:0004097	Deviation of finger	145173	B3GLCT	OMIM:261540
HP:0004097	Deviation of finger	145173	B3GLCT	ORPHA:709
HP:0004097	Deviation of finger	2033	EP300	OMIM:180849
HP:0004097	Deviation of finger	92002	CCNQ	OMIM:300707
HP:0004097	Deviation of finger	92002	CCNQ	ORPHA:140952
HP:0004097	Deviation of finger	285590	SH3PXD2B	ORPHA:137834
HP:0004097	Deviation of finger	80036	TRPM3	OMIM:620224
HP:0004097	Deviation of finger	526	ATP6V1B2	ORPHA:79500
HP:0004097	Deviation of finger	57465	TBC1D24	ORPHA:79500
HP:0004097	Deviation of finger	57465	TBC1D24	OMIM:220500
HP:0004097	Deviation of finger	207	AKT1	ORPHA:744
HP:0004097	Deviation of finger	2887	GRB10	ORPHA:96182
HP:0004097	Deviation of finger	1457	CSNK2A1	OMIM:617062
HP:0004097	Deviation of finger	7204	TRIO	OMIM:617061
HP:0004097	Deviation of finger	7204	TRIO	ORPHA:476126
HP:0004097	Deviation of finger	2077	ERF	OMIM:617180
HP:0004097	Deviation of finger	28952	CCDC22	OMIM:300963
HP:0004097	Deviation of finger	90416	CCDC32	OMIM:619123
HP:0004097	Deviation of finger	8450	CUL4B	ORPHA:85293
HP:0004097	Deviation of finger	55717	WDR11	OMIM:620237
HP:0004097	Deviation of finger	118924	FRA10AC1	OMIM:620113
HP:0004097	Deviation of finger	22995	CEP152	OMIM:613823
HP:0004097	Deviation of finger	22995	CEP152	ORPHA:808
HP:0004097	Deviation of finger	3549	IHH	OMIM:112500
HP:0004097	Deviation of finger	3549	IHH	ORPHA:93388
HP:0004097	Deviation of finger	3090	HIC1	ORPHA:531
HP:0004097	Deviation of finger	10436	EMG1	OMIM:211180
HP:0004097	Deviation of finger	10436	EMG1	ORPHA:1270
HP:0004097	Deviation of finger	23387	SIK3	OMIM:618162
HP:0004097	Deviation of finger	10084	PQBP1	OMIM:309500
HP:0004097	Deviation of finger	5745	PTH1R	OMIM:156400
HP:0004097	Deviation of finger	89970	RSPRY1	ORPHA:457395
HP:0004097	Deviation of finger	9487	PIGL	OMIM:280000
HP:0004097	Deviation of finger	22800	RRAS2	ORPHA:648
HP:0004097	Deviation of finger	867	CBL	ORPHA:648
HP:0004097	Deviation of finger	8216	LZTR1	ORPHA:648
HP:0004097	Deviation of finger	6016	RIT1	ORPHA:648
HP:0004097	Deviation of finger	6237	RRAS	ORPHA:648
HP:0004097	Deviation of finger	5894	RAF1	ORPHA:648
HP:0004097	Deviation of finger	22808	MRAS	ORPHA:648
HP:0004097	Deviation of finger	3845	KRAS	ORPHA:648
HP:0004097	Deviation of finger	200734	SPRED2	ORPHA:648
HP:0004097	Deviation of finger	4893	NRAS	ORPHA:648
HP:0004097	Deviation of finger	6654	SOS1	ORPHA:648
HP:0004097	Deviation of finger	6655	SOS2	ORPHA:648
HP:0004097	Deviation of finger	5922	RASA2	ORPHA:648
HP:0004097	Deviation of finger	23522	KAT6B	ORPHA:3047
HP:0004097	Deviation of finger	6913	TBX15	OMIM:260660
HP:0004097	Deviation of finger	79023	NUP37	OMIM:618179
HP:0004097	Deviation of finger	375056	MIA3	OMIM:619269
HP:0004097	Deviation of finger	27161	AGO2	OMIM:619149
HP:0004097	Deviation of finger	5567	PRKACB	OMIM:619143
HP:0004097	Deviation of finger	221927	BRAT1	OMIM:618056
HP:0004097	Deviation of finger	8823	FGF16	OMIM:309630
HP:0004097	Deviation of finger	161742	SPRED1	ORPHA:137605
HP:0004097	Deviation of finger	7337	UBE3A	ORPHA:238446
HP:0004097	Deviation of finger	58499	ZNF462	ORPHA:502430
HP:0004097	Deviation of finger	58499	ZNF462	OMIM:618619
HP:0004097	Deviation of finger	1832	DSP	ORPHA:158687
HP:0004097	Deviation of finger	1832	DSP	OMIM:609638
HP:0004097	Deviation of finger	3728	JUP	ORPHA:158687
HP:0004097	Deviation of finger	23241	PACS2	OMIM:618067
HP:0004097	Deviation of finger	26128	KIFBP	OMIM:609460
HP:0004097	Deviation of finger	23556	PIGN	ORPHA:2059
HP:0004097	Deviation of finger	5885	RAD21	OMIM:614701
HP:0004097	Deviation of finger	5885	RAD21	ORPHA:199
HP:0004097	Deviation of finger	7518	XRCC4	ORPHA:99812
HP:0004097	Deviation of finger	3209	HOXA13	OMIM:140000
HP:0004097	Deviation of finger	3209	HOXA13	ORPHA:2438
HP:0004097	Deviation of finger	8854	ALDH1A2	OMIM:620025
HP:0004097	Deviation of finger	10274	STAG1	ORPHA:502434
HP:0004097	Deviation of finger	89910	UBE3B	OMIM:244450
HP:0004097	Deviation of finger	2314	FLII	ORPHA:819
HP:0004097	Deviation of finger	23096	IQSEC2	ORPHA:819
HP:0004097	Deviation of finger	10743	RAI1	ORPHA:819
HP:0004097	Deviation of finger	10743	RAI1	OMIM:182290
HP:0004097	Deviation of finger	10522	DEAF1	ORPHA:819
HP:0004097	Deviation of finger	7175	TPR	OMIM:620393
HP:0004097	Deviation of finger	6595	SMARCA2	OMIM:619293
HP:0004097	Deviation of finger	672	BRCA1	ORPHA:84
HP:0004097	Deviation of finger	10459	MAD2L2	ORPHA:84
HP:0004097	Deviation of finger	7516	XRCC2	ORPHA:84
HP:0004097	Deviation of finger	29089	UBE2T	ORPHA:84
HP:0004097	Deviation of finger	675	BRCA2	ORPHA:84
HP:0004097	Deviation of finger	55120	FANCL	ORPHA:84
HP:0004097	Deviation of finger	2177	FANCD2	ORPHA:84
HP:0004097	Deviation of finger	2175	FANCA	ORPHA:84
HP:0004097	Deviation of finger	2187	FANCB	ORPHA:84
HP:0004097	Deviation of finger	2176	FANCC	ORPHA:84
HP:0004097	Deviation of finger	2178	FANCE	ORPHA:84
HP:0004097	Deviation of finger	2188	FANCF	ORPHA:84
HP:0004097	Deviation of finger	2189	FANCG	ORPHA:84
HP:0004097	Deviation of finger	5888	RAD51	ORPHA:84
HP:0004097	Deviation of finger	5889	RAD51C	ORPHA:84
HP:0004097	Deviation of finger	55159	RFWD3	ORPHA:84
HP:0004097	Deviation of finger	83990	BRIP1	ORPHA:84
HP:0004097	Deviation of finger	57697	FANCM	ORPHA:84
HP:0004097	Deviation of finger	79728	PALB2	ORPHA:84
HP:0004097	Deviation of finger	84464	SLX4	ORPHA:84
HP:0004097	Deviation of finger	2072	ERCC4	ORPHA:84
HP:0004097	Deviation of finger	55215	FANCI	ORPHA:84
HP:0004097	Deviation of finger	84823	LMNB2	OMIM:619180
HP:0004097	Deviation of finger	9184	BUB3	ORPHA:1052
HP:0004097	Deviation of finger	699	BUB1	ORPHA:1052
HP:0004097	Deviation of finger	699	BUB1	OMIM:620183
HP:0004097	Deviation of finger	9702	CEP57	ORPHA:1052
HP:0004097	Deviation of finger	9702	CEP57	OMIM:614114
HP:0004097	Deviation of finger	9319	TRIP13	ORPHA:1052
HP:0004097	Deviation of finger	701	BUB1B	ORPHA:1052
HP:0004097	Deviation of finger	54476	RNF216	ORPHA:1173
HP:0004097	Deviation of finger	10908	PNPLA6	ORPHA:1173
HP:0004097	Deviation of finger	23036	ZNF292	OMIM:619188
HP:0004097	Deviation of finger	51199	NIN	OMIM:614851
HP:0004097	Deviation of finger	51199	NIN	ORPHA:319675
HP:0004097	Deviation of finger	79813	EHMT1	OMIM:610253
HP:0004097	Deviation of finger	4953	ODC1	OMIM:619075
HP:0004097	Deviation of finger	4953	ODC1	ORPHA:544488
HP:0004097	Deviation of finger	1857	DVL3	ORPHA:3107
HP:0004097	Deviation of finger	2535	FZD2	ORPHA:3107
HP:0004097	Deviation of finger	2535	FZD2	OMIM:164745
HP:0004097	Deviation of finger	26053	AUTS2	OMIM:615834
HP:0004097	Deviation of finger	6804	STX1A	ORPHA:904
HP:0004097	Deviation of finger	7461	CLIP2	ORPHA:904
HP:0004097	Deviation of finger	84277	DNAJC30	ORPHA:904
HP:0004097	Deviation of finger	8468	FKBP6	ORPHA:904
HP:0004097	Deviation of finger	5982	RFC2	ORPHA:904
HP:0004097	Deviation of finger	2969	GTF2I	ORPHA:904
HP:0004097	Deviation of finger	3984	LIMK1	ORPHA:904
HP:0004097	Deviation of finger	9569	GTF2IRD1	ORPHA:904
HP:0004097	Deviation of finger	155382	VPS37D	ORPHA:904
HP:0004097	Deviation of finger	155368	METTL27	ORPHA:904
HP:0004097	Deviation of finger	114049	BUD23	ORPHA:904
HP:0004097	Deviation of finger	7458	EIF4H	ORPHA:904
HP:0004097	Deviation of finger	84163	GTF2IRD2	ORPHA:904
HP:0004097	Deviation of finger	26608	TBL2	ORPHA:904
HP:0004097	Deviation of finger	653361	NCF1	ORPHA:904
HP:0004097	Deviation of finger	135886	TMEM270	ORPHA:904
HP:0004097	Deviation of finger	9031	BAZ1B	ORPHA:904
HP:0004097	Deviation of finger	2006	ELN	ORPHA:904
HP:0004097	Deviation of finger	2006	ELN	OMIM:194050
HP:0004097	Deviation of finger	3207	HOXA11	ORPHA:71289
HP:0004097	Deviation of finger	3207	HOXA11	OMIM:605432
HP:0004097	Deviation of finger	81031	SLC2A10	ORPHA:3342
HP:0004097	Deviation of finger	55165	CEP55	OMIM:236500
HP:0004097	Deviation of finger	84992	PIGY	OMIM:616809
HP:0004097	Deviation of finger	10236	HNRNPR	OMIM:620073
HP:0004097	Deviation of finger	4094	MAF	ORPHA:1272
HP:0004097	Deviation of finger	6628	SNRPB	ORPHA:1393
HP:0004097	Deviation of finger	6628	SNRPB	OMIM:117650
HP:0004097	Deviation of finger	1028	CDKN1C	ORPHA:397590
HP:0004097	Deviation of finger	5324	PLAG1	ORPHA:397590
HP:0004097	Deviation of finger	9555	MACROH2A1	ORPHA:1275
HP:0004097	Deviation of finger	5307	PITX1	ORPHA:1275
HP:0004097	Deviation of finger	5422	POLA1	ORPHA:163976
HP:0004097	Deviation of finger	5422	POLA1	OMIM:301030
HP:0004097	Deviation of finger	55906	ZC4H2	ORPHA:3454
HP:0004097	Deviation of finger	51085	MLXIPL	OMIM:194050
HP:0004097	Deviation of finger	10430	TMEM147	OMIM:620075
HP:0004097	Deviation of finger	3187	HNRNPH1	OMIM:620083
HP:0004097	Deviation of finger	1482	NKX2-5	OMIM:187500
HP:0004097	Deviation of finger	1482	NKX2-5	ORPHA:3303
HP:0004097	Deviation of finger	6899	TBX1	OMIM:187500
HP:0004097	Deviation of finger	6899	TBX1	ORPHA:3303
HP:0004097	Deviation of finger	2626	GATA4	OMIM:187500
HP:0004097	Deviation of finger	2626	GATA4	ORPHA:3303
HP:0004097	Deviation of finger	23414	ZFPM2	OMIM:187500
HP:0004097	Deviation of finger	23414	ZFPM2	ORPHA:3303
HP:0004097	Deviation of finger	182	JAG1	OMIM:187500
HP:0004097	Deviation of finger	182	JAG1	ORPHA:3303
HP:0004097	Deviation of finger	2627	GATA6	OMIM:187500
HP:0004097	Deviation of finger	2627	GATA6	ORPHA:3303
HP:0004097	Deviation of finger	545	ATR	ORPHA:808
HP:0004097	Deviation of finger	545	ATR	OMIM:210600
HP:0004097	Deviation of finger	1062	CENPE	ORPHA:808
HP:0004097	Deviation of finger	5116	PCNT	ORPHA:808
HP:0004097	Deviation of finger	5116	PCNT	OMIM:210720
HP:0004097	Deviation of finger	5116	PCNT	ORPHA:2637
HP:0004097	Deviation of finger	79902	NUP85	ORPHA:808
HP:0004097	Deviation of finger	84126	ATRIP	ORPHA:808
HP:0004097	Deviation of finger	10293	TRAIP	ORPHA:808
HP:0004097	Deviation of finger	1763	DNA2	ORPHA:808
HP:0004097	Deviation of finger	10733	PLK4	ORPHA:808
HP:0004097	Deviation of finger	9939	RBM8A	ORPHA:3320
HP:0004097	Deviation of finger	9939	RBM8A	OMIM:274000
HP:0004097	Deviation of finger	55023	PHIP	ORPHA:589905
HP:0004097	Deviation of finger	55023	PHIP	OMIM:617991
HP:0004097	Deviation of finger	8626	TP63	ORPHA:69085
HP:0004097	Deviation of finger	9775	EIF4A3	OMIM:268305
HP:0004097	Deviation of finger	2703	GJA8	OMIM:612474
HP:0004097	Deviation of finger	2702	GJA5	OMIM:612474
HP:0004097	Deviation of finger	2702	GJA5	ORPHA:3303
HP:0004097	Deviation of finger	3897	L1CAM	ORPHA:2466
HP:0004097	Deviation of finger	4208	MEF2C	OMIM:613443
HP:0004097	Deviation of finger	129880	BBS5	OMIM:615983
HP:0004097	Deviation of finger	55690	PACS1	ORPHA:329224
HP:0004097	Deviation of finger	9230	RAB11B	OMIM:617807
HP:0004097	Deviation of finger	84181	CHD6	ORPHA:2108
HP:0004097	Deviation of finger	51621	KLF13	OMIM:612001
HP:0004097	Deviation of finger	5648	MASP1	OMIM:257920
HP:0004097	Deviation of finger	23394	ADNP	OMIM:615873
HP:0004097	Deviation of finger	9759	HDAC4	ORPHA:1001
HP:0004097	Deviation of finger	11133	KPTN	OMIM:615637
HP:0004097	Deviation of finger	11133	KPTN	ORPHA:397612
HP:0004097	Deviation of finger	85358	SHANK3	OMIM:606232
HP:0004097	Deviation of finger	23028	KDM1A	OMIM:616728
HP:0004097	Deviation of finger	23028	KDM1A	ORPHA:477993
HP:0004097	Deviation of finger	137814	NKX2-6	ORPHA:3303
HP:0004097	Deviation of finger	3791	KDR	ORPHA:3303
HP:0004097	Deviation of finger	2657	GDF1	ORPHA:3303
HP:0004097	Deviation of finger	140628	GATA5	ORPHA:3303
HP:0004097	Deviation of finger	2324	FLT4	ORPHA:3303
HP:0004097	Deviation of finger	10370	CITED2	ORPHA:3303
HP:0004097	Deviation of finger	2334	AFF2	ORPHA:100973
HP:0004097	Deviation of finger	10847	SRCAP	OMIM:136140
HP:0004097	Deviation of finger	83479	DDX59	OMIM:174300
HP:0004097	Deviation of finger	10982	MAPRE2	OMIM:616734
HP:0004097	Deviation of finger	4131	MAP1B	OMIM:618918
HP:0004097	Deviation of finger	54808	DYM	OMIM:223800
HP:0004097	Deviation of finger	84679	SLC9A7	OMIM:301024
HP:0004097	Deviation of finger	10735	STAG2	OMIM:301022
HP:0004097	Deviation of finger	10265	IRX5	OMIM:611174
HP:0004097	Deviation of finger	5925	RB1	ORPHA:1587
HP:0004097	Deviation of finger	7874	USP7	OMIM:616863
HP:0004097	Deviation of finger	3759	KCNJ2	OMIM:170390
HP:0004097	Deviation of finger	81620	CDT1	ORPHA:2554
HP:0004097	Deviation of finger	5000	ORC4	ORPHA:2554
HP:0004097	Deviation of finger	23594	ORC6	ORPHA:2554
HP:0004097	Deviation of finger	8318	CDC45	ORPHA:2554
HP:0004097	Deviation of finger	990	CDC6	ORPHA:2554
HP:0004097	Deviation of finger	51053	GMNN	ORPHA:2554
HP:0004097	Deviation of finger	64093	SMOC1	ORPHA:1106
HP:0004097	Deviation of finger	25	ABL1	OMIM:617602
HP:0004097	Deviation of finger	83696	TRAPPC9	ORPHA:352530
HP:0004097	Deviation of finger	860	RUNX2	ORPHA:1452
HP:0004097	Deviation of finger	29980	DONSON	OMIM:617604
HP:0004097	Deviation of finger	6638	SNRPN	ORPHA:177907
HP:0004097	Deviation of finger	8243	SMC1A	ORPHA:199
HP:0004097	Deviation of finger	6878	TAF6	ORPHA:199
HP:0004097	Deviation of finger	10664	CTCF	ORPHA:363611
HP:0004097	Deviation of finger	157680	VPS13B	ORPHA:193
HP:0004097	Deviation of finger	22931	RAB18	OMIM:614222
HP:0004097	Deviation of finger	9894	TELO2	ORPHA:488642
HP:0004097	Deviation of finger	80232	WDR26	OMIM:617616
HP:0004097	Deviation of finger	490	ATP2B1	OMIM:619910
HP:0004097	Deviation of finger	8405	SPOP	OMIM:618828
HP:0004097	Deviation of finger	8405	SPOP	OMIM:618829
HP:0004097	Deviation of finger	284252	KCTD1	OMIM:181270
HP:0004097	Deviation of finger	54870	QRICH1	OMIM:617982
HP:0004097	Deviation of finger	139285	AMER1	OMIM:300373
HP:0004097	Deviation of finger	4841	NONO	ORPHA:466791
HP:0004097	Deviation of finger	1663	DDX11	OMIM:613398
HP:0004097	Deviation of finger	51317	PHF21A	OMIM:618725
HP:0004097	Deviation of finger	2186	BPTF	OMIM:617755
HP:0004097	Deviation of finger	4848	CNOT2	OMIM:618608
HP:0004097	Deviation of finger	64131	XYLT1	ORPHA:1425
HP:0004097	Deviation of finger	124583	CANT1	ORPHA:1425
HP:0004097	Deviation of finger	55790	CSGALNACT1	ORPHA:1425
HP:0004097	Deviation of finger	4204	MECP2	OMIM:300260
HP:0004097	Deviation of finger	55553	SOX6	OMIM:618971
HP:0004097	Deviation of finger	84148	KAT8	OMIM:618974
HP:0004097	Deviation of finger	4882	NPR2	OMIM:615923
HP:0004097	Deviation of finger	92482	BBIP1	ORPHA:110
HP:0004097	Deviation of finger	80184	CEP290	ORPHA:110
HP:0004097	Deviation of finger	11020	IFT27	ORPHA:110
HP:0004097	Deviation of finger	49855	SCAPER	ORPHA:110
HP:0004097	Deviation of finger	4867	NPHP1	ORPHA:110
HP:0004097	Deviation of finger	51057	WDPCP	ORPHA:110
HP:0004097	Deviation of finger	132320	SCLT1	ORPHA:110
HP:0004097	Deviation of finger	27241	BBS9	ORPHA:110
HP:0004097	Deviation of finger	84984	CEP19	ORPHA:110
HP:0004097	Deviation of finger	22954	TRIM32	ORPHA:110
HP:0004097	Deviation of finger	79738	BBS10	ORPHA:110
HP:0004097	Deviation of finger	123016	TTC8	ORPHA:110
HP:0004097	Deviation of finger	26160	IFT172	ORPHA:110
HP:0004097	Deviation of finger	583	BBS2	ORPHA:110
HP:0004097	Deviation of finger	585	BBS4	ORPHA:110
HP:0004097	Deviation of finger	8195	MKKS	ORPHA:110
HP:0004097	Deviation of finger	54585	LZTFL1	ORPHA:110
HP:0004097	Deviation of finger	55212	BBS7	ORPHA:110
HP:0004097	Deviation of finger	166379	BBS12	ORPHA:110
HP:0004097	Deviation of finger	10806	SDCCAG8	ORPHA:110
HP:0004097	Deviation of finger	157657	CFAP418	ORPHA:110
HP:0004097	Deviation of finger	80173	IFT74	ORPHA:110
HP:0004097	Deviation of finger	9469	CHST3	OMIM:143095
HP:0004097	Deviation of finger	5518	PPP2R1A	OMIM:616362
HP:0004097	Deviation of finger	51651	PTRH2	OMIM:616263
HP:0004097	Deviation of finger	51651	PTRH2	ORPHA:456312
HP:0004097	Deviation of finger	1146	CHRNG	OMIM:265000
HP:0004097	Deviation of finger	4621	MYH3	ORPHA:2053
HP:0004097	Deviation of finger	4621	MYH3	ORPHA:1147
HP:0004097	Deviation of finger	4621	MYH3	ORPHA:1146
HP:0004097	Deviation of finger	259232	NALCN	ORPHA:2053
HP:0004097	Deviation of finger	259232	NALCN	ORPHA:1147
HP:0004097	Deviation of finger	259232	NALCN	ORPHA:1146
HP:0004097	Deviation of finger	7476	WNT7A	OMIM:228930
HP:0004097	Deviation of finger	84231	TRAF7	OMIM:618164
HP:0004097	Deviation of finger	7140	TNNT3	ORPHA:1147
HP:0004097	Deviation of finger	7140	TNNT3	ORPHA:1146
HP:0004097	Deviation of finger	7169	TPM2	ORPHA:1147
HP:0004097	Deviation of finger	7169	TPM2	ORPHA:1146
HP:0004097	Deviation of finger	7136	TNNI2	ORPHA:1147
HP:0004097	Deviation of finger	7136	TNNI2	ORPHA:1146
HP:0004097	Deviation of finger	4604	MYBPC1	ORPHA:1146
HP:0004097	Deviation of finger	22930	RAB3GAP1	ORPHA:1387
HP:0004097	Deviation of finger	25782	RAB3GAP2	ORPHA:1387
HP:0004097	Deviation of finger	5077	PAX3	ORPHA:1529
HP:0004097	Deviation of finger	1836	SLC26A2	ORPHA:628
HP:0004097	Deviation of finger	1836	SLC26A2	OMIM:222600
HP:0004097	Deviation of finger	6473	SHOX	ORPHA:2632
HP:0004097	Deviation of finger	50945	TBX22	ORPHA:921
HP:0004097	Deviation of finger	3265	HRAS	ORPHA:3071
HP:0004097	Deviation of finger	613	BCR	ORPHA:261330
HP:0004097	Deviation of finger	1399	CRKL	ORPHA:261330
HP:0004097	Deviation of finger	5594	MAPK1	ORPHA:261330
HP:0004097	Deviation of finger	3977	LIFR	OMIM:601559
HP:0004097	Deviation of finger	3239	HOXD13	ORPHA:93406
HP:0004097	Deviation of finger	2201	FBN2	OMIM:121050
HP:0004097	Deviation of finger	1717	DHCR7	ORPHA:818
HP:0004097	Deviation of finger	6299	SALL1	ORPHA:857
HP:0004097	Deviation of finger	51339	DACT1	ORPHA:857
HP:0004097	Deviation of finger	658	BMPR1B	ORPHA:93384
HP:0004097	Deviation of finger	10225	CD96	OMIM:211750
HP:0004097	Deviation of finger	9382	COG1	OMIM:611209
HP:0004097	Deviation of finger	389827	MYMK	ORPHA:1358
HP:0004097	Deviation of finger	101929726	MYMX	ORPHA:1358
HP:0004097	Deviation of finger	59341	TRPV4	OMIM:606835
HP:0004097	Deviation of finger	59341	TRPV4	OMIM:113500
HP:0004097	Deviation of finger	4920	ROR2	OMIM:268310
HP:0004097	Deviation of finger	5295	PIK3R1	OMIM:269880
HP:0004097	Deviation of finger	2245	FGD1	OMIM:305400
HP:0004097	Deviation of finger	10262	SF3B4	OMIM:154400
HP:0004097	Deviation of finger	65250	CPLANE1	OMIM:277170
HP:0004097	Deviation of finger	54880	BCOR	OMIM:309800
HP:0004097	Deviation of finger	8260	NAA10	OMIM:309800
HP:0004097	Deviation of finger	9241	NOG	OMIM:186570
HP:0004097	Deviation of finger	9241	NOG	OMIM:186500
HP:0004097	Deviation of finger	22856	CHSY1	ORPHA:363417
HP:0004097	Deviation of finger	546	ATRX	OMIM:309580
HP:0004097	Deviation of finger	546	ATRX	OMIM:301040
HP:0004097	Deviation of finger	2146	EZH2	OMIM:277590
HP:0004097	Deviation of finger	84100	ARL6	OMIM:209900
HP:0004097	Deviation of finger	79140	CCDC28B	OMIM:209900
HP:0004097	Deviation of finger	582	BBS1	OMIM:209900
HP:0004097	Deviation of finger	157570	ESCO2	ORPHA:3103
HP:0004097	Deviation of finger	157570	ESCO2	OMIM:268300
HP:0004097	Deviation of finger	100033413	SNORD116-1	OMIM:176270
HP:0004097	Deviation of finger	8924	HERC2	OMIM:176270
HP:0004097	Deviation of finger	23742	NPAP1	OMIM:176270
HP:0004097	Deviation of finger	338433	SNORD115-1	OMIM:176270
HP:0004097	Deviation of finger	54551	MAGEL2	OMIM:176270
HP:0004097	Deviation of finger	7681	MKRN3	OMIM:176270
HP:0004097	Deviation of finger	145624	PWAR1	OMIM:176270
HP:0004097	Deviation of finger	3653	IPW	OMIM:176270
HP:0004097	Deviation of finger	791114	PWRN1	OMIM:176270
HP:0004097	Deviation of finger	55764	IFT122	OMIM:218330
HP:0004097	Deviation of finger	7474	WNT5A	OMIM:180700
HP:0004097	Deviation of finger	1855	DVL1	OMIM:180700
HP:0004097	Deviation of finger	257	ALX3	OMIM:136760
HP:0004097	Deviation of finger	65267	WNK3	OMIM:309610
HP:0004097	Deviation of finger	4089	SMAD4	OMIM:139210
HP:0004097	Deviation of finger	54903	MKS1	OMIM:249000
HP:0004097	Deviation of finger	29123	ANKRD11	OMIM:148050
HP:0004097	Deviation of finger	2261	FGFR3	OMIM:602849
HP:0004097	Deviation of finger	25942	SIN3A	OMIM:613406
HP:0004097	Deviation of finger	9968	MED12	OMIM:305450
HP:0004097	Deviation of finger	9244	CRLF1	OMIM:272430
HP:0004097	Deviation of finger	3480	IGF1R	OMIM:270450
HP:0004097	Deviation of finger	673	BRAF	OMIM:163950
HP:0004097	Deviation of finger	5604	MAP2K1	OMIM:163950
HP:0004097	Deviation of finger	5781	PTPN11	OMIM:163950
HP:0004097	Deviation of finger	26227	PHGDH	OMIM:256520
HP:0004097	Deviation of finger	81857	MED25	ORPHA:464738
HP:0004097	Deviation of finger	80207	OPA3	ORPHA:67036
HP:0004097	Deviation of finger	2263	FGFR2	ORPHA:93259
HP:0004097	Deviation of finger	9361	LONP1	OMIM:600373
HP:0004097	Deviation of finger	579	NKX3-2	OMIM:613330
HP:0004097	Deviation of finger	998	CDC42	ORPHA:487796
HP:0004097	Deviation of finger	998	CDC42	OMIM:616737
HP:0004097	Deviation of finger	7547	ZIC3	OMIM:314390
HP:0004097	Deviation of finger	8314	BAP1	OMIM:619762
HP:0004097	Deviation of finger	6472	SHMT2	OMIM:619121
HP:0004097	Deviation of finger	3756	KCNH1	OMIM:611816
HP:0004097	Deviation of finger	5965	RECQL	OMIM:620370
HP:0004097	Deviation of finger	9419	CRIPT	OMIM:615789
HP:0004097	Deviation of finger	4247	MGAT2	OMIM:212066
HP:0004097	Deviation of finger	9343	EFTUD2	OMIM:610536
HP:0004097	Deviation of finger	10682	EBP	ORPHA:401973
HP:0004097	Deviation of finger	10682	EBP	OMIM:300960
HP:0004097	Deviation of finger	91949	COG7	OMIM:608779
HP:0004097	Deviation of finger	80347	COASY	OMIM:618266
HP:0004097	Deviation of finger	50515	CHST11	OMIM:618167
HP:0004097	Deviation of finger	54809	SAMD9	OMIM:617053
HP:0004097	Deviation of finger	285489	DOK7	OMIM:618389
HP:0004097	Deviation of finger	348180	CTU2	OMIM:618142
HP:0004097	Deviation of finger	1272	CNTN1	OMIM:612540
HP:0004097	Deviation of finger	7841	MOGS	OMIM:606056
HP:0004097	Deviation of finger	7841	MOGS	ORPHA:79330
HP:0004097	Deviation of finger	256297	PTF1A	OMIM:609069
HP:0004097	Deviation of finger	79087	ALG12	ORPHA:79324
HP:0004097	Deviation of finger	55593	OTUD5	OMIM:301056
HP:0004097	Deviation of finger	23299	BICD2	OMIM:618291
HP:0004097	Deviation of finger	129285	PPP1R21	OMIM:619383
HP:0004097	Deviation of finger	91754	NEK9	OMIM:617022
HP:0004097	Deviation of finger	8567	MADD	OMIM:619004
HP:0004097	Deviation of finger	5297	PI4KA	OMIM:616531
HP:0004097	Deviation of finger	5297	PI4KA	OMIM:619708
HP:0004097	Deviation of finger	1822	ATN1	OMIM:618494
HP:0004097	Deviation of finger	8985	PLOD3	OMIM:612394
HP:0004097	Deviation of finger	84162	BLTP1	OMIM:617822
HP:0004097	Deviation of finger	5591	PRKDC	OMIM:615966
HP:0004097	Deviation of finger	4654	MYOD1	OMIM:618975
HP:0004097	Deviation of finger	9772	TMEM94	OMIM:618316
HP:0004097	Deviation of finger	27145	FILIP1	OMIM:620775
HP:0004097	Deviation of finger	2316	FLNA	OMIM:304120
HP:0004097	Deviation of finger	2122	MECOM	OMIM:616738
HP:0004097	Deviation of finger	26040	SETBP1	ORPHA:798
HP:0004097	Deviation of finger	2121	EVC	ORPHA:952
HP:0004097	Deviation of finger	132884	EVC2	ORPHA:952
HP:0004097	Deviation of finger	55249	YY1AP1	OMIM:602531
HP:0004097	Deviation of finger	10466	COG5	ORPHA:263487
HP:0004097	Deviation of finger	8092	ALX1	ORPHA:306542
HP:0004097	Deviation of finger	6885	MAP3K7	OMIM:617137
HP:0004097	Deviation of finger	150468	CKAP2L	OMIM:272440
HP:0004097	Deviation of finger	4750	NEK1	ORPHA:2751
HP:0004097	Deviation of finger	6925	TCF4	ORPHA:2896
HP:0004097	Deviation of finger	79583	TMEM231	ORPHA:2754
HP:0004097	Deviation of finger	10210	TOPORS	ORPHA:2754
HP:0004097	Deviation of finger	9851	KIAA0753	ORPHA:2754
HP:0004097	Deviation of finger	26123	TCTN3	ORPHA:2754
HP:0004097	Deviation of finger	5147	PDE6D	ORPHA:2754
HP:0004097	Deviation of finger	51259	TMEM216	ORPHA:2754
HP:0004097	Deviation of finger	317662	FAM149B1	ORPHA:2754
HP:0004097	Deviation of finger	374654	KIF7	ORPHA:2754
HP:0004097	Deviation of finger	22827	PUF60	ORPHA:508488
HP:0004097	Deviation of finger	6910	TBX5	OMIM:142900
HP:0004097	Deviation of finger	84342	COG8	OMIM:611182
HP:0004097	Deviation of finger	2036	EPB41L1	OMIM:614257
HP:0004097	Deviation of finger	55784	MCTP2	ORPHA:1596
HP:0004097	Deviation of finger	1747	DLX3	ORPHA:3352
HP:0004097	Deviation of finger	1974	EIF4A2	OMIM:620455
HP:0004097	Deviation of finger	26834	RNU4-2	OMIM:620851
HP:0004097	Deviation of finger	4000	LMNA	ORPHA:79474
HP:0004097	Deviation of finger	8085	KMT2D	OMIM:147920
HP:0004097	Deviation of finger	7403	KDM6A	OMIM:147920
HP:0004097	Deviation of finger	93986	FOXP2	ORPHA:251061
HP:0004097	Deviation of finger	55027	HEATR3	OMIM:620072
HP:0004097	Deviation of finger	91461	PKDCC	OMIM:618821
HP:0004097	Deviation of finger	388015	RTL1	ORPHA:96334
HP:0004097	Deviation of finger	8788	DLK1	ORPHA:96334
HP:0004097	Deviation of finger	55384	MEG3	ORPHA:96334
HP:0004097	Deviation of finger	3767	KCNJ11	ORPHA:79134
HP:0004097	Deviation of finger	79731	NARS2	ORPHA:79134
HP:0004097	Deviation of finger	6833	ABCC8	ORPHA:79134
HP:0004097	Deviation of finger	5293	PIK3CD	ORPHA:221139
HP:0004097	Deviation of finger	90417	KNSTRN	ORPHA:221139
HP:0009381	Short finger	9698	PUM1	OMIM:620719
HP:0009381	Short finger	10743	RAI1	OMIM:182290
HP:0009381	Short finger	7021	TFAP2B	ORPHA:46627
HP:0009381	Short finger	51199	NIN	ORPHA:319675
HP:0009381	Short finger	51199	NIN	OMIM:614851
HP:0009381	Short finger	7474	WNT5A	OMIM:180700
HP:0009381	Short finger	860	RUNX2	OMIM:119600
HP:0009381	Short finger	860	RUNX2	OMIM:156510
HP:0009381	Short finger	2783	GNB2	OMIM:619503
HP:0009381	Short finger	5932	RBBP8	OMIM:251255
HP:0009381	Short finger	10236	HNRNPR	OMIM:620073
HP:0009381	Short finger	55777	MBD5	OMIM:156200
HP:0009381	Short finger	4613	MYCN	ORPHA:391641
HP:0009381	Short finger	4613	MYCN	OMIM:620748
HP:0009381	Short finger	4613	MYCN	OMIM:164280
HP:0009381	Short finger	1300	COL10A1	OMIM:156500
HP:0009381	Short finger	8200	GDF5	ORPHA:63442
HP:0009381	Short finger	8200	GDF5	ORPHA:93396
HP:0009381	Short finger	8200	GDF5	ORPHA:93384
HP:0009381	Short finger	8200	GDF5	ORPHA:93388
HP:0009381	Short finger	650	BMP2	ORPHA:93396
HP:0009381	Short finger	5745	PTH1R	OMIM:600002
HP:0009381	Short finger	2261	FGFR3	ORPHA:15
HP:0009381	Short finger	2261	FGFR3	OMIM:602849
HP:0009381	Short finger	5422	POLA1	OMIM:301030
HP:0009381	Short finger	652	BMP4	OMIM:607932
HP:0009381	Short finger	3549	IHH	OMIM:607778
HP:0009381	Short finger	3549	IHH	ORPHA:93388
HP:0009381	Short finger	9742	IFT140	OMIM:266920
HP:0009381	Short finger	4920	ROR2	OMIM:113000
HP:0009381	Short finger	5144	PDE4D	ORPHA:439822
HP:0009381	Short finger	8085	KMT2D	ORPHA:2322
HP:0009381	Short finger	7403	KDM6A	ORPHA:2322
HP:0009381	Short finger	25871	NEPRO	OMIM:618853
HP:0009381	Short finger	51053	GMNN	OMIM:616835
HP:0009381	Short finger	5116	PCNT	OMIM:210720
HP:0009381	Short finger	22995	CEP152	OMIM:613823
HP:0009381	Short finger	57572	DOCK6	OMIM:614219
HP:0009381	Short finger	55081	IFT57	OMIM:617927
HP:0009381	Short finger	407975	MIR17HG	ORPHA:391646
HP:0009381	Short finger	4297	KMT2A	OMIM:605130
HP:0009381	Short finger	84295	PHF6	OMIM:301900
HP:0009381	Short finger	9451	EIF2AK3	OMIM:226980
HP:0009381	Short finger	84992	PIGY	ORPHA:247262
HP:0009381	Short finger	84992	PIGY	OMIM:616809
HP:0009381	Short finger	84720	PIGO	ORPHA:247262
HP:0009381	Short finger	84720	PIGO	OMIM:614749
HP:0009381	Short finger	93210	PGAP3	ORPHA:247262
HP:0009381	Short finger	93210	PGAP3	OMIM:615716
HP:0009381	Short finger	284098	PIGW	ORPHA:247262
HP:0009381	Short finger	27315	PGAP2	ORPHA:247262
HP:0009381	Short finger	27315	PGAP2	OMIM:614207
HP:0009381	Short finger	9487	PIGL	ORPHA:247262
HP:0009381	Short finger	57020	VPS35L	OMIM:619135
HP:0009381	Short finger	2972	BRF1	OMIM:616202
HP:0009381	Short finger	29929	ALG6	ORPHA:79320
HP:0009381	Short finger	2737	GLI3	OMIM:146510
HP:0009381	Short finger	5447	POR	ORPHA:95699
HP:0009381	Short finger	56992	KIF15	ORPHA:261323
HP:0009381	Short finger	22827	PUF60	ORPHA:508498
HP:0009381	Short finger	22827	PUF60	ORPHA:508488
HP:0009381	Short finger	22827	PUF60	OMIM:615583
HP:0009381	Short finger	2245	FGD1	OMIM:305400
HP:0009381	Short finger	10262	SF3B4	OMIM:154400
HP:0009381	Short finger	23162	MAPK8IP3	OMIM:618443
HP:0009381	Short finger	5648	MASP1	OMIM:257920
HP:0009381	Short finger	6597	SMARCA4	ORPHA:1465
HP:0009381	Short finger	6597	SMARCA4	OMIM:614609
HP:0009381	Short finger	6598	SMARCB1	ORPHA:1465
HP:0009381	Short finger	6659	SOX4	ORPHA:1465
HP:0009381	Short finger	8289	ARID1A	ORPHA:1465
HP:0009381	Short finger	5977	DPF2	ORPHA:1465
HP:0009381	Short finger	6601	SMARCC2	ORPHA:1465
HP:0009381	Short finger	6602	SMARCD1	ORPHA:1465
HP:0009381	Short finger	57492	ARID1B	ORPHA:1465
HP:0009381	Short finger	196528	ARID2	ORPHA:1465
HP:0009381	Short finger	6605	SMARCE1	ORPHA:1465
HP:0009381	Short finger	6664	SOX11	ORPHA:1465
HP:0009381	Short finger	5879	RAC1	ORPHA:500159
HP:0009381	Short finger	91461	PKDCC	OMIM:618821
HP:0009381	Short finger	3209	HOXA13	OMIM:140000
HP:0009381	Short finger	3209	HOXA13	OMIM:176305
HP:0009381	Short finger	9820	CUL7	OMIM:273750
HP:0009381	Short finger	23363	OBSL1	OMIM:612921
HP:0009381	Short finger	4848	CNOT2	OMIM:618608
HP:0009381	Short finger	526	ATP6V1B2	ORPHA:79500
HP:0009381	Short finger	57465	TBC1D24	ORPHA:79500
HP:0009381	Short finger	57465	TBC1D24	OMIM:220500
HP:0009381	Short finger	5286	PIK3C2A	ORPHA:557003
HP:0009381	Short finger	2697	GJA1	OMIM:186100
HP:0009381	Short finger	6926	TBX3	OMIM:181450
HP:0009381	Short finger	1327	COX4I1	OMIM:619060
HP:0009381	Short finger	4212	MEIS2	OMIM:600987
HP:0009381	Short finger	9775	EIF4A3	OMIM:268305
HP:0009381	Short finger	3481	IGF2	ORPHA:397590
HP:0009381	Short finger	1028	CDKN1C	ORPHA:397590
HP:0009381	Short finger	5324	PLAG1	ORPHA:397590
HP:0009381	Short finger	8091	HMGA2	ORPHA:397590
HP:0009381	Short finger	9126	SMC3	OMIM:610759
HP:0009381	Short finger	2122	MECOM	OMIM:616738
HP:0009381	Short finger	59344	ALOXE3	OMIM:242100
HP:0009381	Short finger	242	ALOX12B	OMIM:242100
HP:0009381	Short finger	8820	HESX1	OMIM:182230
HP:0009381	Short finger	8820	HESX1	ORPHA:226307
HP:0009381	Short finger	4921	DDR2	OMIM:271665
HP:0009381	Short finger	64840	PORCN	OMIM:305600
HP:0009381	Short finger	26154	ABCA12	OMIM:242500
HP:0009381	Short finger	7840	ALMS1	ORPHA:64
HP:0009381	Short finger	9131	AIFM1	OMIM:300232
HP:0009381	Short finger	6134	RPL10	OMIM:300998
HP:0009381	Short finger	6134	RPL10	ORPHA:459070
HP:0009381	Short finger	5626	PROP1	ORPHA:226307
HP:0009381	Short finger	89884	LHX4	ORPHA:226307
HP:0009381	Short finger	8022	LHX3	ORPHA:226307
HP:0009381	Short finger	5449	POU1F1	ORPHA:226307
HP:0009381	Short finger	4038	LRP4	OMIM:614305
HP:0009381	Short finger	5593	PRKG2	OMIM:619636
HP:0009381	Short finger	1836	SLC26A2	ORPHA:628
HP:0009381	Short finger	1836	SLC26A2	OMIM:222600
HP:0009381	Short finger	1836	SLC26A2	ORPHA:93307
HP:0009381	Short finger	79718	TBL1XR1	OMIM:602342
HP:0009381	Short finger	79718	TBL1XR1	ORPHA:487825
HP:0009381	Short finger	59341	TRPV4	OMIM:156530
HP:0009381	Short finger	2200	FBN1	OMIM:608328
HP:0009381	Short finger	4089	SMAD4	OMIM:139210
HP:0009381	Short finger	2316	FLNA	OMIM:300049
HP:0009381	Short finger	7750	ZMYM2	OMIM:619522
HP:0009381	Short finger	9578	CDC42BPB	OMIM:619841
HP:0009381	Short finger	8481	OFD1	OMIM:300209
HP:0009381	Short finger	55784	MCTP2	ORPHA:1596
HP:0009381	Short finger	176	ACAN	OMIM:612813
HP:0009381	Short finger	6263	RYR3	OMIM:620310
HP:0009381	Short finger	3930	LBR	OMIM:215140
HP:0009381	Short finger	427	ASAH1	ORPHA:333
HP:0009381	Short finger	9241	NOG	OMIM:186570
HP:0009381	Short finger	5498	PPOX	OMIM:620483
HP:0009381	Short finger	2317	FLNB	OMIM:108720
HP:0009381	Short finger	658	BMPR1B	OMIM:609441
HP:0009381	Short finger	9896	FIG4	OMIM:216340
HP:0009381	Short finger	9896	FIG4	ORPHA:3472
HP:0009381	Short finger	444	ASPH	OMIM:601552
HP:0009381	Short finger	1513	CTSK	ORPHA:763
HP:0009381	Short finger	84823	LMNB2	OMIM:619180
HP:0009381	Short finger	55697	VAC14	ORPHA:3472
HP:0009381	Short finger	164	AP1G1	OMIM:619467
HP:0009381	Short finger	5277	PIGA	OMIM:300868
HP:0009381	Short finger	57178	ZMIZ1	OMIM:618659
HP:0009381	Short finger	6023	RMRP	OMIM:607095
HP:0009381	Short finger	1134	CHRNA1	OMIM:253290
HP:0009381	Short finger	1146	CHRNG	OMIM:253290
HP:0009381	Short finger	1144	CHRND	OMIM:253290
HP:0009381	Short finger	2719	GPC3	OMIM:312870
HP:0009381	Short finger	2239	GPC4	OMIM:312870
HP:0009381	Short finger	7227	TRPS1	OMIM:190351
HP:0009381	Short finger	5130	PCYT1A	OMIM:608940
HP:0009381	Short finger	3480	IGF1R	OMIM:270450
HP:0009381	Short finger	6792	CDKL5	ORPHA:1934
HP:0009381	Short finger	3736	KCNA1	ORPHA:1934
HP:0009381	Short finger	9091	PIGQ	ORPHA:1934
HP:0009381	Short finger	140679	SLC32A1	ORPHA:1934
HP:0009381	Short finger	2775	GNAO1	ORPHA:1934
HP:0009381	Short finger	81603	TRIM8	ORPHA:1934
HP:0009381	Short finger	2902	GRIN1	ORPHA:1934
HP:0009381	Short finger	79751	SLC25A22	ORPHA:1934
HP:0009381	Short finger	150094	SIK1	ORPHA:1934
HP:0009381	Short finger	8573	CASK	ORPHA:1934
HP:0009381	Short finger	23312	DMXL2	ORPHA:1934
HP:0009381	Short finger	2917	GRM7	ORPHA:1934
HP:0009381	Short finger	170302	ARX	ORPHA:1934
HP:0009381	Short finger	11284	PNKP	ORPHA:1934
HP:0009381	Short finger	6326	SCN2A	ORPHA:1934
HP:0009381	Short finger	51227	PIGP	ORPHA:1934
HP:0009381	Short finger	6324	SCN1B	ORPHA:1934
HP:0009381	Short finger	4761	NEUROD2	ORPHA:1934
HP:0009381	Short finger	2778	GNAS	OMIM:103580
HP:0009381	Short finger	26123	TCTN3	OMIM:258860
HP:0009381	Short finger	2879	GPX4	OMIM:250220
HP:0009381	Short finger	2077	ERF	OMIM:617180
HP:0009381	Short finger	10265	IRX5	OMIM:611174
HP:0009381	Short finger	27152	INTU	OMIM:617926
HP:0009381	Short finger	5293	PIK3CD	ORPHA:221139
HP:0009381	Short finger	90417	KNSTRN	ORPHA:221139
HP:0009381	Short finger	5727	PTCH1	OMIM:109400
HP:0009381	Short finger	1280	COL2A1	OMIM:271700
HP:0009381	Short finger	100151683	RNU4ATAC	OMIM:210710
HP:0009381	Short finger	2263	FGFR2	OMIM:149730
HP:0009381	Short finger	2263	FGFR2	ORPHA:2363
HP:0009381	Short finger	23028	KDM1A	OMIM:616728
HP:0009381	Short finger	23028	KDM1A	ORPHA:477993
HP:0009381	Short finger	57167	SALL4	OMIM:607323
HP:0009381	Short finger	57167	SALL4	ORPHA:959
HP:0009381	Short finger	57167	SALL4	ORPHA:2307
HP:0009381	Short finger	57167	SALL4	OMIM:147750
HP:0009381	Short finger	9401	RECQL4	OMIM:268400
HP:0009381	Short finger	29998	BICRA	OMIM:619325
HP:0009381	Short finger	2175	FANCA	OMIM:227650
HP:0009381	Short finger	1723	DHODH	OMIM:263750
HP:0009381	Short finger	55215	FANCI	OMIM:609053
HP:0009381	Short finger	83990	BRIP1	OMIM:609054
HP:0009381	Short finger	10847	SRCAP	ORPHA:2044
HP:0009381	Short finger	324	APC	ORPHA:3258
HP:0009381	Short finger	2188	FANCF	OMIM:603467
HP:0009381	Short finger	54880	BCOR	ORPHA:2712
HP:0009381	Short finger	157570	ESCO2	ORPHA:2319
HP:0009381	Short finger	7020	TFAP2A	OMIM:113620
HP:0009381	Short finger	1717	DHCR7	OMIM:270400
HP:0009381	Short finger	727857	BHLHA9	ORPHA:157801
HP:0009381	Short finger	10815	CPLX1	ORPHA:280
HP:0009381	Short finger	10815	CPLX1	OMIM:194190
HP:0009381	Short finger	54872	PIGG	ORPHA:280
HP:0009381	Short finger	7469	NELFA	ORPHA:280
HP:0009381	Short finger	1487	CTBP1	ORPHA:280
HP:0009381	Short finger	1487	CTBP1	OMIM:194190
HP:0009381	Short finger	3954	LETM1	ORPHA:280
HP:0009381	Short finger	3954	LETM1	OMIM:194190
HP:0009381	Short finger	7468	NSD2	ORPHA:280
HP:0009381	Short finger	7468	NSD2	OMIM:194190
HP:0009381	Short finger	2178	FANCE	OMIM:600901
HP:0009381	Short finger	55636	CHD7	OMIM:214800
HP:0009381	Short finger	25942	SIN3A	OMIM:613406
HP:0009381	Short finger	53834	FGFRL1	OMIM:194190
HP:0009381	Short finger	6135	RPL11	OMIM:612562
HP:0009381	Short finger	6135	RPL11	ORPHA:124
HP:0009381	Short finger	2033	EP300	OMIM:180849
HP:0009381	Short finger	1387	CREBBP	OMIM:180849
HP:0009381	Short finger	6125	RPL5	OMIM:612561
HP:0009381	Short finger	6125	RPL5	ORPHA:124
HP:0009381	Short finger	80036	TRPM3	OMIM:620224
HP:0009381	Short finger	2255	FGF10	OMIM:620193
HP:0009381	Short finger	2255	FGF10	ORPHA:2363
HP:0009381	Short finger	374879	ZNF699	OMIM:619488
HP:0009381	Short finger	79728	PALB2	OMIM:610832
HP:0009381	Short finger	675	BRCA2	OMIM:605724
HP:0009381	Short finger	2177	FANCD2	OMIM:227646
HP:0009381	Short finger	5889	RAD51C	OMIM:613390
HP:0009381	Short finger	50515	CHST11	OMIM:618167
HP:0009381	Short finger	2176	FANCC	OMIM:227645
HP:0009381	Short finger	4256	MGP	OMIM:245150
HP:0009381	Short finger	9968	MED12	OMIM:300895
HP:0009381	Short finger	170691	ADAMTS17	ORPHA:3449
HP:0009381	Short finger	4053	LTBP2	ORPHA:3449
HP:0009381	Short finger	81794	ADAMTS10	ORPHA:3449
HP:0009381	Short finger	2260	FGFR1	OMIM:166250
HP:0009381	Short finger	84464	SLX4	OMIM:613951
HP:0009381	Short finger	5718	PSMD12	OMIM:617516
HP:0009381	Short finger	374969	SVBP	OMIM:618569
HP:0009381	Short finger	9939	RBM8A	OMIM:274000
HP:0009381	Short finger	6223	RPS19	OMIM:105650
HP:0009381	Short finger	6223	RPS19	ORPHA:124
HP:0009381	Short finger	6910	TBX5	OMIM:142900
HP:0009381	Short finger	6138	RPL15	ORPHA:124
HP:0009381	Short finger	6224	RPS20	ORPHA:124
HP:0009381	Short finger	6165	RPL35A	ORPHA:124
HP:0009381	Short finger	6132	RPL8	ORPHA:124
HP:0009381	Short finger	6232	RPS27	ORPHA:124
HP:0009381	Short finger	55027	HEATR3	ORPHA:124
HP:0009381	Short finger	6160	RPL31	ORPHA:124
HP:0009381	Short finger	6201	RPS7	ORPHA:124
HP:0009381	Short finger	6155	RPL27	ORPHA:124
HP:0009381	Short finger	6234	RPS28	ORPHA:124
HP:0009381	Short finger	6229	RPS24	ORPHA:124
HP:0009381	Short finger	6204	RPS10	ORPHA:124
HP:0009381	Short finger	2623	GATA1	ORPHA:124
HP:0009381	Short finger	6133	RPL9	ORPHA:124
HP:0009381	Short finger	6231	RPS26	ORPHA:124
HP:0009381	Short finger	11224	RPL35	ORPHA:124
HP:0009381	Short finger	6218	RPS17	ORPHA:124
HP:0009381	Short finger	6154	RPL26	ORPHA:124
HP:0009381	Short finger	6210	RPS15A	ORPHA:124
HP:0009381	Short finger	90121	TSR2	ORPHA:124
HP:0009381	Short finger	6141	RPL18	ORPHA:124
HP:0009381	Short finger	6235	RPS29	ORPHA:124
HP:0009381	Short finger	51816	ADA2	ORPHA:124
HP:0009381	Short finger	26100	WIPI2	OMIM:618453
HP:0009381	Short finger	54101	RIPK4	OMIM:263650
HP:0009381	Short finger	29089	UBE2T	OMIM:616435
HP:0009381	Short finger	9488	PIGB	OMIM:618580
HP:0009381	Short finger	10617	STAMBP	OMIM:614261
HP:0009381	Short finger	2335	FN1	ORPHA:93315
HP:0009381	Short finger	23556	PIGN	ORPHA:2059
HP:0009381	Short finger	23556	PIGN	OMIM:614080
HP:0009381	Short finger	10973	ASCC3	OMIM:620700
HP:0009381	Short finger	90459	ERI1	OMIM:620662
HP:0009381	Short finger	51412	ACTL6B	OMIM:618470
HP:0009381	Short finger	613	BCR	ORPHA:261330
HP:0009381	Short finger	1399	CRKL	ORPHA:261330
HP:0009381	Short finger	5594	MAPK1	ORPHA:261330
HP:0009381	Short finger	1855	DVL1	OMIM:616331
HP:0009381	Short finger	4000	LMNA	OMIM:248370
HP:0009381	Short finger	4000	LMNA	ORPHA:90153
HP:0009381	Short finger	5744	PTHLH	ORPHA:93387
HP:0009381	Short finger	3239	HOXD13	ORPHA:93387
HP:0009381	Short finger	3239	HOXD13	ORPHA:93406
HP:0009381	Short finger	3239	HOXD13	OMIM:186300
HP:0009381	Short finger	3764	KCNJ8	ORPHA:1517
HP:0009381	Short finger	10060	ABCC9	ORPHA:1517
HP:0009381	Short finger	57539	WDR35	ORPHA:1515
HP:0009381	Short finger	57539	WDR35	OMIM:614091
HP:0009381	Short finger	112752	IFT43	ORPHA:1515
HP:0009381	Short finger	51098	IFT52	ORPHA:1515
HP:0009381	Short finger	51098	IFT52	OMIM:617102
HP:0009381	Short finger	55764	IFT122	ORPHA:1515
HP:0009381	Short finger	55764	IFT122	OMIM:218330
HP:0009381	Short finger	57728	WDR19	ORPHA:1515
HP:0009381	Short finger	57728	WDR19	OMIM:614378
HP:0009381	Short finger	10269	ZMPSTE24	ORPHA:90154
HP:0009381	Short finger	55650	PIGV	OMIM:239300
HP:0009381	Short finger	29957	SLC25A24	ORPHA:2963
HP:0009381	Short finger	29957	SLC25A24	ORPHA:2095
HP:0009381	Short finger	29957	SLC25A24	OMIM:612289
HP:0009381	Short finger	6595	SMARCA2	OMIM:619293
HP:0009381	Short finger	4784	NFIX	OMIM:602535
HP:0009381	Short finger	24140	FTSJ1	OMIM:309549
HP:0009381	Short finger	54496	PRMT7	OMIM:617157
HP:0009381	Short finger	3756	KCNH1	OMIM:135500
HP:0009381	Short finger	3756	KCNH1	ORPHA:420561
HP:0009381	Short finger	3756	KCNH1	OMIM:611816
HP:0009381	Short finger	9469	CHST3	OMIM:143095
HP:0009381	Short finger	64359	NXN	ORPHA:1507
HP:0009381	Short finger	5566	PRKACA	ORPHA:289
HP:0009381	Short finger	5567	PRKACB	ORPHA:289
HP:0009381	Short finger	2735	GLI1	ORPHA:289
HP:0009381	Short finger	2121	EVC	ORPHA:289
HP:0009381	Short finger	51626	DYNC2LI1	ORPHA:289
HP:0009381	Short finger	132884	EVC2	ORPHA:289
HP:0009381	Short finger	2475	MTOR	OMIM:616638
HP:0009381	Short finger	9419	CRIPT	OMIM:615789
HP:0009381	Short finger	3782	KCNN3	OMIM:618658
HP:0009381	Short finger	4853	NOTCH2	ORPHA:955
HP:0009381	Short finger	26040	SETBP1	OMIM:269150
HP:0009381	Short finger	26040	SETBP1	ORPHA:798
HP:0009381	Short finger	54	ACP5	ORPHA:1855
HP:0009381	Short finger	6197	RPS6KA3	ORPHA:192
HP:0009381	Short finger	5281	PIGF	OMIM:619356
HP:0009381	Short finger	94005	PIGS	OMIM:618143
HP:0009381	Short finger	2677	GGCX	OMIM:277450
HP:0009381	Short finger	10283	CWC27	OMIM:250410
HP:0009381	Short finger	415	ARSL	ORPHA:79345
HP:0009381	Short finger	415	ARSL	OMIM:302950
HP:0009381	Short finger	1311	COMP	OMIM:177170
HP:0009381	Short finger	25839	COG4	OMIM:618150
HP:0009381	Short finger	26137	ZBTB20	OMIM:259050
HP:0009381	Short finger	60401	EDA2R	ORPHA:181
HP:0009381	Short finger	1896	EDA	ORPHA:181
HP:0009381	Short finger	5159	PDGFRB	OMIM:601812
HP:0009381	Short finger	28952	CCDC22	OMIM:300963
HP:0009381	Short finger	182	JAG1	OMIM:118450
HP:0009381	Short finger	7291	TWIST1	OMIM:617746
HP:0009381	Short finger	3516	RBPJ	ORPHA:974
HP:0009381	Short finger	3516	RBPJ	OMIM:614814
HP:0009381	Short finger	4851	NOTCH1	ORPHA:974
HP:0009381	Short finger	57514	ARHGAP31	ORPHA:974
HP:0009381	Short finger	285203	EOGT	ORPHA:974
HP:0009381	Short finger	54567	DLL4	ORPHA:974
HP:0009381	Short finger	8242	KDM5C	OMIM:300534
HP:0009381	Short finger	6885	MAP3K7	ORPHA:1826
HP:0009381	Short finger	1186	CLCN7	ORPHA:53
HP:0009381	Short finger	2703	GJA8	OMIM:612474
HP:0009381	Short finger	2702	GJA5	OMIM:612474
HP:0009381	Short finger	25886	POC1A	OMIM:614813
HP:0009381	Short finger	865	CBFB	OMIM:620099
HP:0009381	Short finger	2535	FZD2	OMIM:164745
HP:0009381	Short finger	2535	FZD2	ORPHA:93328
HP:0009381	Short finger	23476	BRD4	ORPHA:199
HP:0009381	Short finger	23476	BRD4	OMIM:620568
HP:0009381	Short finger	8243	SMC1A	ORPHA:199
HP:0009381	Short finger	6878	TAF6	ORPHA:199
HP:0009381	Short finger	25836	NIPBL	ORPHA:199
HP:0009381	Short finger	55869	HDAC8	ORPHA:199
HP:0009381	Short finger	5885	RAD21	ORPHA:199
HP:0009381	Short finger	90	ACVR1	OMIM:135100
HP:0009381	Short finger	6091	ROBO1	OMIM:620305
HP:0009381	Short finger	6662	SOX9	OMIM:114290
HP:0009381	Short finger	388015	RTL1	ORPHA:96334
HP:0009381	Short finger	8788	DLK1	ORPHA:96334
HP:0009381	Short finger	55384	MEG3	ORPHA:96334
HP:0009381	Short finger	3911	LAMA5	OMIM:620076
HP:0009381	Short finger	124583	CANT1	OMIM:251450
HP:0004099	Macrodactyly	5290	PIK3CA	OMIM:613089
HP:0004099	Macrodactyly	5290	PIK3CA	OMIM:612918
HP:0004099	Macrodactyly	5290	PIK3CA	ORPHA:276280
HP:0004099	Macrodactyly	5290	PIK3CA	ORPHA:140944
HP:0004099	Macrodactyly	5290	PIK3CA	ORPHA:168984
HP:0004099	Macrodactyly	5290	PIK3CA	OMIM:155500
HP:0004099	Macrodactyly	83550	GPR101	ORPHA:963
HP:0004099	Macrodactyly	9049	AIP	ORPHA:963
HP:0004099	Macrodactyly	207	AKT1	ORPHA:744
HP:0011304	Broad thumb	9469	CHST3	OMIM:245600
HP:0011304	Broad thumb	26229	B3GAT3	OMIM:245600
HP:0011304	Broad thumb	126792	B3GALT6	OMIM:615349
HP:0011304	Broad thumb	126792	B3GALT6	OMIM:271640
HP:0011304	Broad thumb	2778	GNAS	ORPHA:79443
HP:0011304	Broad thumb	2778	GNAS	ORPHA:79444
HP:0011304	Broad thumb	3239	HOXD13	OMIM:113200
HP:0011304	Broad thumb	7291	TWIST1	ORPHA:794
HP:0011304	Broad thumb	7291	TWIST1	OMIM:180750
HP:0011304	Broad thumb	2263	FGFR2	ORPHA:794
HP:0011304	Broad thumb	2263	FGFR2	ORPHA:87
HP:0011304	Broad thumb	2263	FGFR2	ORPHA:93260
HP:0011304	Broad thumb	2263	FGFR2	ORPHA:93258
HP:0011304	Broad thumb	2263	FGFR2	ORPHA:93259
HP:0011304	Broad thumb	2263	FGFR2	OMIM:101600
HP:0011304	Broad thumb	2263	FGFR2	OMIM:101200
HP:0011304	Broad thumb	2261	FGFR3	ORPHA:794
HP:0011304	Broad thumb	2261	FGFR3	OMIM:602849
HP:0011304	Broad thumb	1280	COL2A1	OMIM:271700
HP:0011304	Broad thumb	2737	GLI3	ORPHA:672
HP:0011304	Broad thumb	2737	GLI3	ORPHA:380
HP:0011304	Broad thumb	2737	GLI3	OMIM:175700
HP:0011304	Broad thumb	2737	GLI3	OMIM:174200
HP:0011304	Broad thumb	22827	PUF60	ORPHA:508498
HP:0011304	Broad thumb	23394	ADNP	ORPHA:404448
HP:0011304	Broad thumb	6910	TBX5	ORPHA:392
HP:0011304	Broad thumb	6477	SIAH1	OMIM:619314
HP:0011304	Broad thumb	10059	DNM1L	OMIM:614388
HP:0011304	Broad thumb	6885	MAP3K7	OMIM:617137
HP:0011304	Broad thumb	6885	MAP3K7	ORPHA:1826
HP:0011304	Broad thumb	23314	SATB2	ORPHA:251028
HP:0011304	Broad thumb	23314	SATB2	ORPHA:251019
HP:0011304	Broad thumb	23314	SATB2	ORPHA:576283
HP:0011304	Broad thumb	64327	LMBR1	OMIM:190605
HP:0011304	Broad thumb	9241	NOG	OMIM:184460
HP:0011304	Broad thumb	9241	NOG	ORPHA:3237
HP:0011304	Broad thumb	6299	SALL1	OMIM:107480
HP:0011304	Broad thumb	6299	SALL1	ORPHA:857
HP:0011304	Broad thumb	10847	SRCAP	OMIM:136140
HP:0011304	Broad thumb	1387	CREBBP	ORPHA:353281
HP:0011304	Broad thumb	1387	CREBBP	OMIM:180849
HP:0011304	Broad thumb	1387	CREBBP	ORPHA:353277
HP:0011304	Broad thumb	650	BMP2	ORPHA:261295
HP:0011304	Broad thumb	3020	H3-3A	OMIM:619720
HP:0011304	Broad thumb	29998	BICRA	OMIM:619325
HP:0011304	Broad thumb	3021	H3-3B	OMIM:619721
HP:0011304	Broad thumb	4920	ROR2	OMIM:113000
HP:0011304	Broad thumb	4920	ROR2	ORPHA:1507
HP:0011304	Broad thumb	4920	ROR2	OMIM:268310
HP:0011304	Broad thumb	1855	DVL1	OMIM:616331
HP:0011304	Broad thumb	1855	DVL1	OMIM:180700
HP:0011304	Broad thumb	473	RERE	OMIM:616975
HP:0011304	Broad thumb	8239	USP9X	OMIM:300919
HP:0011304	Broad thumb	2033	EP300	ORPHA:353284
HP:0011304	Broad thumb	2033	EP300	OMIM:180849
HP:0011304	Broad thumb	2033	EP300	OMIM:613684
HP:0011304	Broad thumb	3248	HPGD	ORPHA:217059
HP:0011304	Broad thumb	176	ACAN	OMIM:612813
HP:0011304	Broad thumb	176	ACAN	ORPHA:171866
HP:0011304	Broad thumb	2239	GPC4	OMIM:301026
HP:0011304	Broad thumb	2239	GPC4	ORPHA:2662
HP:0011304	Broad thumb	2239	GPC4	ORPHA:373
HP:0011304	Broad thumb	2239	GPC4	OMIM:312870
HP:0011304	Broad thumb	51132	RLIM	OMIM:300978
HP:0011304	Broad thumb	64359	NXN	OMIM:618529
HP:0011304	Broad thumb	64359	NXN	ORPHA:1507
HP:0011304	Broad thumb	92579	G6PC3	OMIM:612541
HP:0011304	Broad thumb	64131	XYLT1	OMIM:615777
HP:0011304	Broad thumb	64131	XYLT1	ORPHA:370930
HP:0011304	Broad thumb	29920	PYCR2	ORPHA:481152
HP:0011304	Broad thumb	2260	FGFR1	ORPHA:93258
HP:0011304	Broad thumb	2260	FGFR1	OMIM:166250
HP:0011304	Broad thumb	2260	FGFR1	OMIM:101600
HP:0011304	Broad thumb	64093	SMOC1	ORPHA:1106
HP:0011304	Broad thumb	2626	GATA4	ORPHA:251071
HP:0011304	Broad thumb	8726	EED	OMIM:617561
HP:0011304	Broad thumb	5718	PSMD12	ORPHA:529962
HP:0011304	Broad thumb	2186	BPTF	ORPHA:529962
HP:0011304	Broad thumb	4212	MEIS2	OMIM:600987
HP:0011304	Broad thumb	1954	MEGF8	OMIM:614976
HP:0011304	Broad thumb	1954	MEGF8	ORPHA:65759
HP:0011304	Broad thumb	51715	RAB23	ORPHA:65759
HP:0011304	Broad thumb	5728	PTEN	ORPHA:79076
HP:0011304	Broad thumb	5728	PTEN	ORPHA:109
HP:0011304	Broad thumb	657	BMPR1A	ORPHA:79076
HP:0011304	Broad thumb	8200	GDF5	ORPHA:3237
HP:0011304	Broad thumb	2254	FGF9	ORPHA:3237
HP:0011304	Broad thumb	2254	FGF9	OMIM:612961
HP:0011304	Broad thumb	3981	LIG4	ORPHA:235
HP:0011304	Broad thumb	54888	NSUN2	ORPHA:235
HP:0011304	Broad thumb	6608	SMO	OMIM:601707
HP:0011304	Broad thumb	6608	SMO	ORPHA:1553
HP:0011304	Broad thumb	23126	POGZ	OMIM:616364
HP:0011304	Broad thumb	51633	OTUD6B	OMIM:617452
HP:0011304	Broad thumb	51633	OTUD6B	ORPHA:505237
HP:0011304	Broad thumb	5593	PRKG2	OMIM:619638
HP:0011304	Broad thumb	79753	SNIP1	OMIM:614501
HP:0011304	Broad thumb	9968	MED12	OMIM:309520
HP:0011304	Broad thumb	9968	MED12	OMIM:305450
HP:0011304	Broad thumb	80036	TRPM3	OMIM:620224
HP:0011304	Broad thumb	2317	FLNB	ORPHA:503
HP:0011304	Broad thumb	285362	SUMF1	OMIM:272200
HP:0011304	Broad thumb	285362	SUMF1	ORPHA:585
HP:0011304	Broad thumb	79759	ZNF668	OMIM:620194
HP:0011304	Broad thumb	10236	HNRNPR	OMIM:620073
HP:0011304	Broad thumb	284252	KCTD1	OMIM:181270
HP:0011304	Broad thumb	1857	DVL3	OMIM:616894
HP:0011304	Broad thumb	8481	OFD1	OMIM:300209
HP:0011304	Broad thumb	56098	PCDHGC4	OMIM:619880
HP:0011304	Broad thumb	51339	DACT1	ORPHA:857
HP:0011304	Broad thumb	2316	FLNA	OMIM:304120
HP:0011304	Broad thumb	2316	FLNA	ORPHA:1826
HP:0011304	Broad thumb	3756	KCNH1	ORPHA:420561
HP:0011304	Broad thumb	3756	KCNH1	OMIM:611816
HP:0011304	Broad thumb	2719	GPC3	ORPHA:373
HP:0011304	Broad thumb	2719	GPC3	OMIM:312870
HP:0011304	Broad thumb	4123	MAN2C1	OMIM:619775
HP:0011304	Broad thumb	4488	MSX2	ORPHA:60015
HP:0011304	Broad thumb	60529	ALX4	ORPHA:60015
HP:0011304	Broad thumb	79989	IFT56	OMIM:619534
HP:0011304	Broad thumb	2146	EZH2	OMIM:277590
HP:0011304	Broad thumb	2146	EZH2	ORPHA:3447
HP:0011304	Broad thumb	9939	RBM8A	ORPHA:3320
HP:0011304	Broad thumb	9939	RBM8A	OMIM:274000
HP:0011304	Broad thumb	7474	WNT5A	OMIM:180700
HP:0011304	Broad thumb	64324	NSD1	ORPHA:3447
HP:0011304	Broad thumb	23512	SUZ12	ORPHA:3447
HP:0011304	Broad thumb	23404	EXOSC2	OMIM:617763
HP:0011304	Broad thumb	5587	PRKD1	OMIM:617364
HP:0011304	Broad thumb	2703	GJA8	OMIM:612474
HP:0011304	Broad thumb	2702	GJA5	OMIM:612474
HP:0011304	Broad thumb	3636	INPPL1	ORPHA:2746
HP:0011304	Broad thumb	55690	PACS1	ORPHA:329224
HP:0011304	Broad thumb	22907	DHX30	OMIM:617804
HP:0011304	Broad thumb	865	CBFB	OMIM:620099
HP:0009657	Triangular shaped thumb phalanx	3756	KCNH1	ORPHA:420561
HP:0009944	Partial duplication of thumb phalanx	55012	PPP2R3C	OMIM:618419
HP:0009944	Partial duplication of thumb phalanx	374654	KIF7	OMIM:200990
HP:0009944	Partial duplication of thumb phalanx	5053	PAH	ORPHA:2209
HP:0009944	Partial duplication of thumb phalanx	124583	CANT1	OMIM:251450
HP:0009944	Partial duplication of thumb phalanx	2255	FGF10	OMIM:620193
HP:0009944	Partial duplication of thumb phalanx	6910	TBX5	OMIM:142900
HP:0009944	Partial duplication of thumb phalanx	6138	RPL15	ORPHA:124
HP:0009944	Partial duplication of thumb phalanx	6224	RPS20	ORPHA:124
HP:0009944	Partial duplication of thumb phalanx	6165	RPL35A	ORPHA:124
HP:0009944	Partial duplication of thumb phalanx	6132	RPL8	ORPHA:124
HP:0009944	Partial duplication of thumb phalanx	6223	RPS19	ORPHA:124
HP:0009944	Partial duplication of thumb phalanx	6223	RPS19	OMIM:105650
HP:0009944	Partial duplication of thumb phalanx	6232	RPS27	ORPHA:124
HP:0009944	Partial duplication of thumb phalanx	55027	HEATR3	ORPHA:124
HP:0009944	Partial duplication of thumb phalanx	6160	RPL31	ORPHA:124
HP:0009944	Partial duplication of thumb phalanx	6201	RPS7	ORPHA:124
HP:0009944	Partial duplication of thumb phalanx	6155	RPL27	ORPHA:124
HP:0009944	Partial duplication of thumb phalanx	6234	RPS28	ORPHA:124
HP:0009944	Partial duplication of thumb phalanx	6135	RPL11	ORPHA:124
HP:0009944	Partial duplication of thumb phalanx	6229	RPS24	ORPHA:124
HP:0009944	Partial duplication of thumb phalanx	6125	RPL5	ORPHA:124
HP:0009944	Partial duplication of thumb phalanx	6204	RPS10	ORPHA:124
HP:0009944	Partial duplication of thumb phalanx	2623	GATA1	ORPHA:124
HP:0009944	Partial duplication of thumb phalanx	6133	RPL9	ORPHA:124
HP:0009944	Partial duplication of thumb phalanx	6231	RPS26	ORPHA:124
HP:0009944	Partial duplication of thumb phalanx	11224	RPL35	ORPHA:124
HP:0009944	Partial duplication of thumb phalanx	6218	RPS17	ORPHA:124
HP:0009944	Partial duplication of thumb phalanx	6154	RPL26	ORPHA:124
HP:0009944	Partial duplication of thumb phalanx	6210	RPS15A	ORPHA:124
HP:0009944	Partial duplication of thumb phalanx	90121	TSR2	ORPHA:124
HP:0009944	Partial duplication of thumb phalanx	6141	RPL18	ORPHA:124
HP:0009944	Partial duplication of thumb phalanx	6235	RPS29	ORPHA:124
HP:0009944	Partial duplication of thumb phalanx	51816	ADA2	ORPHA:124
HP:0009944	Partial duplication of thumb phalanx	6299	SALL1	OMIM:107480
HP:0009944	Partial duplication of thumb phalanx	6299	SALL1	ORPHA:857
HP:0009944	Partial duplication of thumb phalanx	2177	FANCD2	OMIM:227646
HP:0009944	Partial duplication of thumb phalanx	1855	DVL1	OMIM:616331
HP:0009944	Partial duplication of thumb phalanx	22856	CHSY1	ORPHA:363417
HP:0009944	Partial duplication of thumb phalanx	57122	NUP107	OMIM:616730
HP:0009944	Partial duplication of thumb phalanx	57122	NUP107	OMIM:618348
HP:0009944	Partial duplication of thumb phalanx	2735	GLI1	OMIM:174400
HP:0009944	Partial duplication of thumb phalanx	2263	FGFR2	OMIM:149730
HP:0009944	Partial duplication of thumb phalanx	51339	DACT1	ORPHA:857
HP:0009944	Partial duplication of thumb phalanx	10992	SF3B2	OMIM:164210
HP:0009944	Partial duplication of thumb phalanx	27152	INTU	OMIM:617926
HP:0033401	Tissue ischemia	3043	HBB	ORPHA:232
HP:0033401	Tissue ischemia	94	ACVRL1	OMIM:600376
HP:0033401	Tissue ischemia	51816	ADA2	OMIM:182410
HP:0033401	Tissue ischemia	2022	ENG	OMIM:187300
HP:0033401	Tissue ischemia	81031	SLC2A10	OMIM:208050
HP:0033401	Tissue ischemia	6651	SON	ORPHA:500150
HP:0033401	Tissue ischemia	2982	GUCY1A1	OMIM:615750
HP:0033401	Tissue ischemia	6331	SCN5A	ORPHA:1344
HP:0033401	Tissue ischemia	4878	NPPA	ORPHA:1344
HP:0033401	Tissue ischemia	79184	BRCC3	ORPHA:280679
HP:0033401	Tissue ischemia	1282	COL4A1	OMIM:175780
HP:0033401	Tissue ischemia	2783	GNB2	OMIM:619503
HP:0033401	Tissue ischemia	4629	MYH11	ORPHA:91387
HP:0033401	Tissue ischemia	7046	TGFBR1	ORPHA:91387
HP:0033401	Tissue ischemia	7048	TGFBR2	ORPHA:91387
HP:0033401	Tissue ischemia	4015	LOX	ORPHA:91387
HP:0033401	Tissue ischemia	4087	SMAD2	ORPHA:91387
HP:0033401	Tissue ischemia	7043	TGFB3	ORPHA:91387
HP:0033401	Tissue ischemia	4088	SMAD3	ORPHA:91387
HP:0033401	Tissue ischemia	7042	TGFB2	ORPHA:91387
HP:0033401	Tissue ischemia	4089	SMAD4	ORPHA:91387
HP:0033401	Tissue ischemia	2200	FBN1	ORPHA:91387
HP:0033401	Tissue ischemia	59	ACTA2	ORPHA:91387
HP:0033401	Tissue ischemia	5592	PRKG1	ORPHA:91387
HP:0033401	Tissue ischemia	2301	FOXE3	ORPHA:91387
HP:0033401	Tissue ischemia	4144	MAT2A	ORPHA:91387
HP:0033401	Tissue ischemia	23493	HEY2	ORPHA:91387
HP:0033401	Tissue ischemia	8076	MFAP5	ORPHA:91387
HP:0033401	Tissue ischemia	4638	MYLK	ORPHA:91387
HP:0033401	Tissue ischemia	79875	THSD4	ORPHA:91387
HP:0033401	Tissue ischemia	2658	GDF2	ORPHA:774
HP:0033401	Tissue ischemia	7092	TLL1	ORPHA:99103
HP:0033401	Tissue ischemia	57057	TBX20	ORPHA:99103
HP:0033401	Tissue ischemia	4624	MYH6	ORPHA:99103
HP:0033401	Tissue ischemia	1482	NKX2-5	ORPHA:99103
HP:0033401	Tissue ischemia	70	ACTC1	ORPHA:99103
HP:0033401	Tissue ischemia	10370	CITED2	ORPHA:99103
HP:0033401	Tissue ischemia	2626	GATA4	ORPHA:99103
HP:0033401	Tissue ischemia	2627	GATA6	ORPHA:99103
HP:0033401	Tissue ischemia	4607	MYBPC3	OMIM:115197
HP:0033401	Tissue ischemia	2717	GLA	OMIM:301500
HP:0033401	Tissue ischemia	2717	GLA	ORPHA:324
HP:0033401	Tissue ischemia	5167	ENPP1	ORPHA:51608
HP:0033401	Tissue ischemia	5167	ENPP1	ORPHA:758
HP:0033401	Tissue ischemia	368	ABCC6	ORPHA:51608
HP:0033401	Tissue ischemia	368	ABCC6	ORPHA:758
HP:0033401	Tissue ischemia	55107	ANO1	OMIM:620687
HP:0033401	Tissue ischemia	71	ACTG1	ORPHA:2995
HP:0033401	Tissue ischemia	60	ACTB	ORPHA:2995
HP:0033401	Tissue ischemia	5654	HTRA1	OMIM:600142
HP:0033401	Tissue ischemia	5654	HTRA1	OMIM:616779
HP:0033401	Tissue ischemia	4000	LMNA	ORPHA:740
HP:0033401	Tissue ischemia	10269	ZMPSTE24	ORPHA:740
HP:0033401	Tissue ischemia	1281	COL3A1	ORPHA:286
HP:0033401	Tissue ischemia	1281	COL3A1	ORPHA:231160
HP:0033401	Tissue ischemia	3845	KRAS	OMIM:600268
HP:0033401	Tissue ischemia	10019	SH2B3	ORPHA:3318
HP:0033401	Tissue ischemia	811	CALR	ORPHA:3318
HP:0033401	Tissue ischemia	7157	TP53	ORPHA:3318
HP:0033401	Tissue ischemia	54790	TET2	ORPHA:3318
HP:0033401	Tissue ischemia	57674	RNF213	OMIM:607151
HP:0033401	Tissue ischemia	11093	ADAMTS13	OMIM:274150
HP:0033401	Tissue ischemia	55901	THSD1	ORPHA:231160
HP:0033401	Tissue ischemia	7049	TGFBR3	ORPHA:231160
HP:0033401	Tissue ischemia	83854	ANGPTL6	ORPHA:231160
HP:0033401	Tissue ischemia	26191	PTPN22	ORPHA:397
HP:0033401	Tissue ischemia	26191	PTPN22	ORPHA:900
HP:0033401	Tissue ischemia	3106	HLA-B	ORPHA:397
HP:0033401	Tissue ischemia	3106	HLA-B	ORPHA:3287
HP:0033401	Tissue ischemia	3106	HLA-B	ORPHA:117
HP:0033401	Tissue ischemia	3123	HLA-DRB1	ORPHA:397
HP:0033401	Tissue ischemia	8974	P4HA2	ORPHA:397
HP:0033401	Tissue ischemia	4854	NOTCH3	ORPHA:136
HP:0033401	Tissue ischemia	4352	MPL	ORPHA:71493
HP:0033401	Tissue ischemia	7066	THPO	ORPHA:71493
HP:0033401	Tissue ischemia	3717	JAK2	ORPHA:71493
HP:0033401	Tissue ischemia	3717	JAK2	OMIM:263300
HP:0033401	Tissue ischemia	875	CBS	ORPHA:394
HP:0033401	Tissue ischemia	5290	PIK3CA	ORPHA:60040
HP:0033401	Tissue ischemia	162417	NAGS	ORPHA:927
HP:0033401	Tissue ischemia	4625	MYH7	ORPHA:1880
HP:0033401	Tissue ischemia	6804	STX1A	ORPHA:904
HP:0033401	Tissue ischemia	7461	CLIP2	ORPHA:904
HP:0033401	Tissue ischemia	84277	DNAJC30	ORPHA:904
HP:0033401	Tissue ischemia	8468	FKBP6	ORPHA:904
HP:0033401	Tissue ischemia	5982	RFC2	ORPHA:904
HP:0033401	Tissue ischemia	2969	GTF2I	ORPHA:904
HP:0033401	Tissue ischemia	3984	LIMK1	ORPHA:904
HP:0033401	Tissue ischemia	9569	GTF2IRD1	ORPHA:904
HP:0033401	Tissue ischemia	155382	VPS37D	ORPHA:904
HP:0033401	Tissue ischemia	155368	METTL27	ORPHA:904
HP:0033401	Tissue ischemia	114049	BUD23	ORPHA:904
HP:0033401	Tissue ischemia	7458	EIF4H	ORPHA:904
HP:0033401	Tissue ischemia	84163	GTF2IRD2	ORPHA:904
HP:0033401	Tissue ischemia	26608	TBL2	ORPHA:904
HP:0033401	Tissue ischemia	653361	NCF1	ORPHA:904
HP:0033401	Tissue ischemia	135886	TMEM270	ORPHA:904
HP:0033401	Tissue ischemia	9031	BAZ1B	ORPHA:904
HP:0033401	Tissue ischemia	2006	ELN	ORPHA:904
HP:0033401	Tissue ischemia	6340	SCNN1G	ORPHA:526
HP:0033401	Tissue ischemia	6338	SCNN1B	ORPHA:526
HP:0033401	Tissue ischemia	6337	SCNN1A	ORPHA:526
HP:0033401	Tissue ischemia	3593	IL12B	ORPHA:3287
HP:0033401	Tissue ischemia	6945	MLX	ORPHA:3287
HP:0033401	Tissue ischemia	1493	CTLA4	ORPHA:900
HP:0033401	Tissue ischemia	3115	HLA-DPB1	ORPHA:900
HP:0033401	Tissue ischemia	5657	PRTN3	ORPHA:900
HP:0033401	Tissue ischemia	3113	HLA-DPA1	ORPHA:900
HP:0033401	Tissue ischemia	8517	IKBKG	ORPHA:464
HP:0033401	Tissue ischemia	351	APP	OMIM:605714
HP:0033401	Tissue ischemia	50485	SMARCAL1	ORPHA:1830
HP:0033401	Tissue ischemia	50485	SMARCAL1	OMIM:242900
HP:0033401	Tissue ischemia	2050	EPHB4	ORPHA:137667
HP:0033401	Tissue ischemia	5921	RASA1	ORPHA:137667
HP:0033401	Tissue ischemia	149233	IL23R	ORPHA:117
HP:0033401	Tissue ischemia	6775	STAT4	ORPHA:117
HP:0033401	Tissue ischemia	3586	IL10	ORPHA:117
HP:0033401	Tissue ischemia	4210	MEFV	ORPHA:117
HP:0033401	Tissue ischemia	1230	CCR1	ORPHA:117
HP:0033401	Tissue ischemia	355	FAS	ORPHA:117
HP:0033401	Tissue ischemia	3592	IL12A	ORPHA:117
HP:0033401	Tissue ischemia	101928376	IL12A-AS1	ORPHA:117
HP:0033401	Tissue ischemia	7099	TLR4	ORPHA:117
HP:0033401	Tissue ischemia	3459	IFNGR1	ORPHA:117
HP:0033401	Tissue ischemia	720	C4A	ORPHA:117
HP:0033401	Tissue ischemia	337867	UBAC2	ORPHA:117
HP:0033401	Tissue ischemia	51752	ERAP1	ORPHA:117
HP:0033401	Tissue ischemia	8302	KLRC4	ORPHA:117
HP:0033401	Tissue ischemia	1499	CTNNB1	ORPHA:54595
HP:0033401	Tissue ischemia	673	BRAF	ORPHA:54595
HP:0033401	Tissue ischemia	79709	COLGALT1	OMIM:618360
HP:0033401	Tissue ischemia	4668	NAGA	OMIM:609242
HP:0033401	Tissue ischemia	5286	PIK3C2A	OMIM:618440
HP:0033405	Abnormal circulating organic amino compound concentration	1621	DBH	OMIM:223360
HP:0033407	Elevated urine acetoacetic acid level	763	CA5A	OMIM:615751
HP:0033407	Elevated urine acetoacetic acid level	3954	LETM1	OMIM:620089
HP:0033417	Elevated circulating hydroxybutyric acid concentration	27247	NFU1	OMIM:605711
HP:0033417	Elevated circulating hydroxybutyric acid concentration	7915	ALDH5A1	OMIM:271980
HP:0033418	Elevated circulating 2-hydroxybutyric acid concentration	27247	NFU1	OMIM:605711
HP:0033424	Pulmonary arterial hypertension with lack of acute response to NO challenge	3777	KCNK3	OMIM:615344
HP:0033425	Periungual erythema	51360	MBTPS2	OMIM:308205
HP:0033425	Periungual erythema	340061	STING1	OMIM:615934
HP:0033429	Neuroinflammation	51284	TLR7	OMIM:301080
HP:0033429	Neuroinflammation	144811	LACC1	ORPHA:85414
HP:0033429	Neuroinflammation	4282	MIF	ORPHA:85414
HP:0033429	Neuroinflammation	3123	HLA-DRB1	ORPHA:85414
HP:0033429	Neuroinflammation	3569	IL6	ORPHA:85414
HP:0033429	Neuroinflammation	149233	IL23R	ORPHA:117
HP:0033429	Neuroinflammation	6775	STAT4	ORPHA:117
HP:0033429	Neuroinflammation	3586	IL10	ORPHA:117
HP:0033429	Neuroinflammation	4210	MEFV	ORPHA:117
HP:0033429	Neuroinflammation	1230	CCR1	ORPHA:117
HP:0033429	Neuroinflammation	355	FAS	ORPHA:117
HP:0033429	Neuroinflammation	3592	IL12A	ORPHA:117
HP:0033429	Neuroinflammation	101928376	IL12A-AS1	ORPHA:117
HP:0033429	Neuroinflammation	3106	HLA-B	ORPHA:117
HP:0033429	Neuroinflammation	7099	TLR4	ORPHA:117
HP:0033429	Neuroinflammation	3459	IFNGR1	ORPHA:117
HP:0033429	Neuroinflammation	720	C4A	ORPHA:117
HP:0033429	Neuroinflammation	337867	UBAC2	ORPHA:117
HP:0033429	Neuroinflammation	51752	ERAP1	ORPHA:117
HP:0033429	Neuroinflammation	8302	KLRC4	ORPHA:117
HP:0033429	Neuroinflammation	7084	TK2	ORPHA:254886
HP:0033429	Neuroinflammation	5428	POLG	ORPHA:254886
HP:0033429	Neuroinflammation	1493	CTLA4	ORPHA:436159
HP:0033429	Neuroinflammation	8517	IKBKG	OMIM:301081
HP:0033429	Neuroinflammation	9692	PRORP	OMIM:619737
HP:0033429	Neuroinflammation	114548	NLRP3	ORPHA:1451
HP:0033429	Neuroinflammation	64127	NOD2	ORPHA:90340
HP:0033430	Non-infectious meningitis	144811	LACC1	ORPHA:85414
HP:0033430	Non-infectious meningitis	4282	MIF	ORPHA:85414
HP:0033430	Non-infectious meningitis	3123	HLA-DRB1	ORPHA:85414
HP:0033430	Non-infectious meningitis	3569	IL6	ORPHA:85414
HP:0033430	Non-infectious meningitis	149233	IL23R	ORPHA:117
HP:0033430	Non-infectious meningitis	6775	STAT4	ORPHA:117
HP:0033430	Non-infectious meningitis	3586	IL10	ORPHA:117
HP:0033430	Non-infectious meningitis	4210	MEFV	ORPHA:117
HP:0033430	Non-infectious meningitis	1230	CCR1	ORPHA:117
HP:0033430	Non-infectious meningitis	355	FAS	ORPHA:117
HP:0033430	Non-infectious meningitis	3592	IL12A	ORPHA:117
HP:0033430	Non-infectious meningitis	101928376	IL12A-AS1	ORPHA:117
HP:0033430	Non-infectious meningitis	3106	HLA-B	ORPHA:117
HP:0033430	Non-infectious meningitis	7099	TLR4	ORPHA:117
HP:0033430	Non-infectious meningitis	3459	IFNGR1	ORPHA:117
HP:0033430	Non-infectious meningitis	720	C4A	ORPHA:117
HP:0033430	Non-infectious meningitis	337867	UBAC2	ORPHA:117
HP:0033430	Non-infectious meningitis	51752	ERAP1	ORPHA:117
HP:0033430	Non-infectious meningitis	8302	KLRC4	ORPHA:117
HP:0033431	Cytomegalovirus colitis	8625	RFXANK	OMIM:620815
HP:0033432	Opportunistic viral infection	8625	RFXANK	OMIM:620815
HP:0007301	Oromotor apraxia	1213	CLTC	OMIM:617854
HP:0007301	Oromotor apraxia	2260	FGFR1	ORPHA:220386
HP:0007301	Oromotor apraxia	2260	FGFR1	ORPHA:93924
HP:0007301	Oromotor apraxia	28514	DLL1	ORPHA:220386
HP:0007301	Oromotor apraxia	28514	DLL1	ORPHA:93926
HP:0007301	Oromotor apraxia	28514	DLL1	ORPHA:93924
HP:0007301	Oromotor apraxia	28514	DLL1	ORPHA:93925
HP:0007301	Oromotor apraxia	10735	STAG2	ORPHA:220386
HP:0007301	Oromotor apraxia	10735	STAG2	ORPHA:93925
HP:0007301	Oromotor apraxia	2253	FGF8	ORPHA:220386
HP:0007301	Oromotor apraxia	2253	FGF8	ORPHA:93926
HP:0007301	Oromotor apraxia	2253	FGF8	ORPHA:93924
HP:0007301	Oromotor apraxia	2253	FGF8	ORPHA:93925
HP:0007301	Oromotor apraxia	8243	SMC1A	ORPHA:220386
HP:0007301	Oromotor apraxia	6496	SIX3	ORPHA:220386
HP:0007301	Oromotor apraxia	6496	SIX3	ORPHA:93926
HP:0007301	Oromotor apraxia	6496	SIX3	ORPHA:93924
HP:0007301	Oromotor apraxia	6496	SIX3	ORPHA:93925
HP:0007301	Oromotor apraxia	7050	TGIF1	ORPHA:220386
HP:0007301	Oromotor apraxia	7050	TGIF1	ORPHA:93926
HP:0007301	Oromotor apraxia	7050	TGIF1	ORPHA:93924
HP:0007301	Oromotor apraxia	7050	TGIF1	ORPHA:93925
HP:0007301	Oromotor apraxia	4838	NODAL	ORPHA:220386
HP:0007301	Oromotor apraxia	4838	NODAL	ORPHA:93926
HP:0007301	Oromotor apraxia	4838	NODAL	ORPHA:93924
HP:0007301	Oromotor apraxia	4838	NODAL	ORPHA:93925
HP:0007301	Oromotor apraxia	6469	SHH	ORPHA:220386
HP:0007301	Oromotor apraxia	6469	SHH	ORPHA:93926
HP:0007301	Oromotor apraxia	6469	SHH	ORPHA:93924
HP:0007301	Oromotor apraxia	6469	SHH	ORPHA:93925
HP:0007301	Oromotor apraxia	7546	ZIC2	ORPHA:220386
HP:0007301	Oromotor apraxia	7546	ZIC2	ORPHA:93926
HP:0007301	Oromotor apraxia	7546	ZIC2	ORPHA:93924
HP:0007301	Oromotor apraxia	7546	ZIC2	ORPHA:93925
HP:0007301	Oromotor apraxia	6491	STIL	ORPHA:220386
HP:0007301	Oromotor apraxia	6491	STIL	ORPHA:93926
HP:0007301	Oromotor apraxia	6491	STIL	ORPHA:93924
HP:0007301	Oromotor apraxia	6491	STIL	ORPHA:93925
HP:0007301	Oromotor apraxia	2619	GAS1	ORPHA:220386
HP:0007301	Oromotor apraxia	2619	GAS1	ORPHA:93926
HP:0007301	Oromotor apraxia	2619	GAS1	ORPHA:93924
HP:0007301	Oromotor apraxia	2619	GAS1	ORPHA:93925
HP:0007301	Oromotor apraxia	84976	DISP1	ORPHA:220386
HP:0007301	Oromotor apraxia	84976	DISP1	ORPHA:93926
HP:0007301	Oromotor apraxia	84976	DISP1	ORPHA:93924
HP:0007301	Oromotor apraxia	84976	DISP1	ORPHA:93925
HP:0007301	Oromotor apraxia	2736	GLI2	ORPHA:220386
HP:0007301	Oromotor apraxia	2736	GLI2	ORPHA:93926
HP:0007301	Oromotor apraxia	2736	GLI2	ORPHA:93924
HP:0007301	Oromotor apraxia	2736	GLI2	ORPHA:93925
HP:0007301	Oromotor apraxia	8928	FOXH1	ORPHA:220386
HP:0007301	Oromotor apraxia	8928	FOXH1	ORPHA:93926
HP:0007301	Oromotor apraxia	8928	FOXH1	ORPHA:93924
HP:0007301	Oromotor apraxia	8928	FOXH1	ORPHA:93925
HP:0007301	Oromotor apraxia	6997	CRIPTO	ORPHA:220386
HP:0007301	Oromotor apraxia	6997	CRIPTO	ORPHA:93926
HP:0007301	Oromotor apraxia	6997	CRIPTO	ORPHA:93924
HP:0007301	Oromotor apraxia	6997	CRIPTO	ORPHA:93925
HP:0007301	Oromotor apraxia	5727	PTCH1	ORPHA:220386
HP:0007301	Oromotor apraxia	5727	PTCH1	ORPHA:93926
HP:0007301	Oromotor apraxia	5727	PTCH1	ORPHA:93924
HP:0007301	Oromotor apraxia	5727	PTCH1	ORPHA:93925
HP:0007301	Oromotor apraxia	50937	CDON	ORPHA:220386
HP:0007301	Oromotor apraxia	50937	CDON	ORPHA:93926
HP:0007301	Oromotor apraxia	50937	CDON	ORPHA:93924
HP:0007301	Oromotor apraxia	50937	CDON	ORPHA:93925
HP:0007301	Oromotor apraxia	55823	VPS11	ORPHA:466934
HP:0007301	Oromotor apraxia	1650	DDOST	ORPHA:300536
HP:0007301	Oromotor apraxia	23007	PLCH1	ORPHA:93925
HP:0007301	Oromotor apraxia	9289	ADGRG1	ORPHA:98889
HP:0007301	Oromotor apraxia	5297	PI4KA	ORPHA:98889
HP:0007301	Oromotor apraxia	27286	SRPX2	ORPHA:98889
HP:0007301	Oromotor apraxia	93986	FOXP2	OMIM:602081
HP:0007301	Oromotor apraxia	27086	FOXP1	ORPHA:391372
HP:0007301	Oromotor apraxia	347733	TUBB2B	ORPHA:300573
HP:0007302	Bipolar affective disorder	291	SLC25A4	ORPHA:254892
HP:0007302	Bipolar affective disorder	5428	POLG	ORPHA:254892
HP:0007302	Bipolar affective disorder	56652	TWNK	ORPHA:254892
HP:0007302	Bipolar affective disorder	11232	POLG2	ORPHA:254892
HP:0007302	Bipolar affective disorder	50484	RRM2B	ORPHA:254892
HP:0007302	Bipolar affective disorder	4558	MT-TF	ORPHA:550
HP:0007302	Bipolar affective disorder	4572	MT-TQ	ORPHA:550
HP:0007302	Bipolar affective disorder	4512	MT-CO1	ORPHA:550
HP:0007302	Bipolar affective disorder	4513	MT-CO2	ORPHA:550
HP:0007302	Bipolar affective disorder	4514	MT-CO3	ORPHA:550
HP:0007302	Bipolar affective disorder	4578	MT-TW	ORPHA:550
HP:0007302	Bipolar affective disorder	4540	MT-ND5	ORPHA:550
HP:0007302	Bipolar affective disorder	4541	MT-ND6	ORPHA:550
HP:0007302	Bipolar affective disorder	4535	MT-ND1	ORPHA:550
HP:0007302	Bipolar affective disorder	4538	MT-ND4	ORPHA:550
HP:0007302	Bipolar affective disorder	4567	MT-TL1	ORPHA:550
HP:0007302	Bipolar affective disorder	4574	MT-TS1	ORPHA:550
HP:0007302	Bipolar affective disorder	4575	MT-TS2	ORPHA:550
HP:0007302	Bipolar affective disorder	4564	MT-TH	ORPHA:550
HP:0007302	Bipolar affective disorder	64601	VPS16	OMIM:619291
HP:0007302	Bipolar affective disorder	6609	SMPD1	ORPHA:77293
HP:0007302	Bipolar affective disorder	1183	CLCN4	OMIM:300114
HP:0007302	Bipolar affective disorder	1183	CLCN4	ORPHA:485350
HP:0007302	Bipolar affective disorder	1139	CHRNA7	ORPHA:199318
HP:0007302	Bipolar affective disorder	1788	DNMT3A	ORPHA:404443
HP:0007302	Bipolar affective disorder	1312	COMT	ORPHA:567
HP:0007302	Bipolar affective disorder	221037	JMJD1C	ORPHA:567
HP:0007302	Bipolar affective disorder	2812	GP1BB	ORPHA:567
HP:0007302	Bipolar affective disorder	6239	RREB1	ORPHA:567
HP:0007302	Bipolar affective disorder	6899	TBX1	ORPHA:567
HP:0007302	Bipolar affective disorder	6899	TBX1	OMIM:188400
HP:0007302	Bipolar affective disorder	7290	HIRA	ORPHA:567
HP:0007302	Bipolar affective disorder	9632	SEC24C	ORPHA:567
HP:0007302	Bipolar affective disorder	7353	UFD1	ORPHA:567
HP:0007302	Bipolar affective disorder	421	ARVCF	ORPHA:567
HP:0007302	Bipolar affective disorder	387119	CEP85L	OMIM:618873
HP:0007302	Bipolar affective disorder	79152	FA2H	ORPHA:329308
HP:0007302	Bipolar affective disorder	79813	EHMT1	OMIM:610253
HP:0007302	Bipolar affective disorder	93627	TBCK	ORPHA:488632
HP:0007302	Bipolar affective disorder	2890	GRIA1	OMIM:619927
HP:0007302	Bipolar affective disorder	5159	PDGFRB	OMIM:615007
HP:0007302	Bipolar affective disorder	4204	MECP2	ORPHA:3077
HP:0007302	Bipolar affective disorder	488	ATP2A2	ORPHA:218
HP:0007302	Bipolar affective disorder	488	ATP2A2	OMIM:124200
HP:0007302	Bipolar affective disorder	26834	RNU4-2	OMIM:620851
HP:0007302	Bipolar affective disorder	10137	RBM12	OMIM:617629
HP:0007302	Bipolar affective disorder	6197	RPS6KA3	ORPHA:276630
HP:0007302	Bipolar affective disorder	2313	FLI1	ORPHA:2308
HP:0002342	Intellectual disability, moderate	5138	PDE2A	OMIM:619150
HP:0002342	Intellectual disability, moderate	7528	YY1	ORPHA:506358
HP:0002342	Intellectual disability, moderate	11253	MAN1B1	ORPHA:397941
HP:0002342	Intellectual disability, moderate	11253	MAN1B1	OMIM:614202
HP:0002342	Intellectual disability, moderate	55703	POLR3B	OMIM:614381
HP:0002342	Intellectual disability, moderate	27316	RBMX	OMIM:300238
HP:0002342	Intellectual disability, moderate	27316	RBMX	ORPHA:85286
HP:0002342	Intellectual disability, moderate	50651	SLC45A1	OMIM:617532
HP:0002342	Intellectual disability, moderate	2132	EXT2	OMIM:616682
HP:0002342	Intellectual disability, moderate	2132	EXT2	ORPHA:466926
HP:0002342	Intellectual disability, moderate	5238	PGM3	ORPHA:443811
HP:0002342	Intellectual disability, moderate	1788	DNMT3A	ORPHA:404443
HP:0002342	Intellectual disability, moderate	51343	FZR1	OMIM:620145
HP:0002342	Intellectual disability, moderate	324	APC	ORPHA:79665
HP:0002342	Intellectual disability, moderate	64324	NSD1	ORPHA:821
HP:0002342	Intellectual disability, moderate	10297	APC2	ORPHA:821
HP:0002342	Intellectual disability, moderate	3190	HNRNPK	ORPHA:453504
HP:0002342	Intellectual disability, moderate	3190	HNRNPK	ORPHA:352665
HP:0002342	Intellectual disability, moderate	4784	NFIX	ORPHA:447980
HP:0002342	Intellectual disability, moderate	4784	NFIX	ORPHA:420179
HP:0002342	Intellectual disability, moderate	4784	NFIX	OMIM:602535
HP:0002342	Intellectual disability, moderate	54968	TMEM70	ORPHA:1194
HP:0002342	Intellectual disability, moderate	1278	COL1A2	ORPHA:230851
HP:0002342	Intellectual disability, moderate	7552	ZNF711	OMIM:300803
HP:0002342	Intellectual disability, moderate	56997	COQ8A	ORPHA:139485
HP:0002342	Intellectual disability, moderate	25914	RTTN	OMIM:614833
HP:0002342	Intellectual disability, moderate	80055	PGAP1	OMIM:615802
HP:0002342	Intellectual disability, moderate	56623	INPP5E	ORPHA:75858
HP:0002342	Intellectual disability, moderate	56623	INPP5E	OMIM:610156
HP:0002342	Intellectual disability, moderate	56623	INPP5E	ORPHA:1454
HP:0002342	Intellectual disability, moderate	10847	SRCAP	ORPHA:2044
HP:0002342	Intellectual disability, moderate	9382	COG1	OMIM:611209
HP:0002342	Intellectual disability, moderate	9382	COG1	ORPHA:263508
HP:0002342	Intellectual disability, moderate	2192	FBLN1	ORPHA:404451
HP:0002342	Intellectual disability, moderate	284403	WDR62	OMIM:604317
HP:0002342	Intellectual disability, moderate	64601	VPS16	OMIM:619291
HP:0002342	Intellectual disability, moderate	84992	PIGY	ORPHA:247262
HP:0002342	Intellectual disability, moderate	84720	PIGO	ORPHA:247262
HP:0002342	Intellectual disability, moderate	93210	PGAP3	ORPHA:247262
HP:0002342	Intellectual disability, moderate	284098	PIGW	ORPHA:247262
HP:0002342	Intellectual disability, moderate	27315	PGAP2	ORPHA:247262
HP:0002342	Intellectual disability, moderate	55650	PIGV	ORPHA:247262
HP:0002342	Intellectual disability, moderate	9487	PIGL	ORPHA:247262
HP:0002342	Intellectual disability, moderate	288	ANK3	OMIM:615493
HP:0002342	Intellectual disability, moderate	288	ANK3	ORPHA:356996
HP:0002342	Intellectual disability, moderate	284058	KANSL1	ORPHA:363958
HP:0002342	Intellectual disability, moderate	284058	KANSL1	ORPHA:363965
HP:0002342	Intellectual disability, moderate	9968	MED12	ORPHA:93932
HP:0002342	Intellectual disability, moderate	81857	MED25	ORPHA:464738
HP:0002342	Intellectual disability, moderate	5631	PRPS1	ORPHA:1187
HP:0002342	Intellectual disability, moderate	1183	CLCN4	ORPHA:485350
HP:0002342	Intellectual disability, moderate	26523	AGO1	OMIM:620292
HP:0002342	Intellectual disability, moderate	343641	TGM6	ORPHA:276193
HP:0002342	Intellectual disability, moderate	6872	TAF1	ORPHA:480907
HP:0002342	Intellectual disability, moderate	51651	PTRH2	ORPHA:456312
HP:0002342	Intellectual disability, moderate	51651	PTRH2	OMIM:616263
HP:0002342	Intellectual disability, moderate	23312	DMXL2	OMIM:616113
HP:0002342	Intellectual disability, moderate	23312	DMXL2	ORPHA:453533
HP:0002342	Intellectual disability, moderate	6999	TDO2	OMIM:600627
HP:0002342	Intellectual disability, moderate	2903	GRIN2A	ORPHA:289266
HP:0002342	Intellectual disability, moderate	10352	WARS2	ORPHA:572798
HP:0002342	Intellectual disability, moderate	1009	CDH11	ORPHA:1299
HP:0002342	Intellectual disability, moderate	2263	FGFR2	OMIM:101400
HP:0002342	Intellectual disability, moderate	2263	FGFR2	ORPHA:794
HP:0002342	Intellectual disability, moderate	7291	TWIST1	OMIM:101400
HP:0002342	Intellectual disability, moderate	7291	TWIST1	ORPHA:794
HP:0002342	Intellectual disability, moderate	11193	WBP4	OMIM:620852
HP:0002342	Intellectual disability, moderate	26834	RNU4-2	OMIM:620851
HP:0002342	Intellectual disability, moderate	54496	PRMT7	ORPHA:464288
HP:0002342	Intellectual disability, moderate	1798	DPAGT1	ORPHA:86309
HP:0002342	Intellectual disability, moderate	2746	GLUD1	ORPHA:35878
HP:0002342	Intellectual disability, moderate	5354	PLP1	ORPHA:280224
HP:0002342	Intellectual disability, moderate	5354	PLP1	ORPHA:280234
HP:0002342	Intellectual disability, moderate	57680	CHD8	OMIM:615032
HP:0002342	Intellectual disability, moderate	8905	AP1S2	ORPHA:85335
HP:0002342	Intellectual disability, moderate	8905	AP1S2	OMIM:304340
HP:0002342	Intellectual disability, moderate	2332	FMR1	ORPHA:908
HP:0002342	Intellectual disability, moderate	2332	FMR1	OMIM:300624
HP:0002342	Intellectual disability, moderate	1660	DHX9	OMIM:620988
HP:0002342	Intellectual disability, moderate	8239	USP9X	ORPHA:480880
HP:0002342	Intellectual disability, moderate	27086	FOXP1	ORPHA:391372
HP:0002342	Intellectual disability, moderate	3708	ITPR1	OMIM:117360
HP:0002342	Intellectual disability, moderate	3708	ITPR1	OMIM:206700
HP:0002342	Intellectual disability, moderate	79633	FAT4	ORPHA:314679
HP:0002342	Intellectual disability, moderate	8642	DCHS1	ORPHA:314679
HP:0002342	Intellectual disability, moderate	5832	ALDH18A1	OMIM:219150
HP:0002342	Intellectual disability, moderate	11128	POLR3A	ORPHA:3455
HP:0002342	Intellectual disability, moderate	6638	SNRPN	ORPHA:98754
HP:0002342	Intellectual disability, moderate	6638	SNRPN	ORPHA:177904
HP:0002342	Intellectual disability, moderate	6638	SNRPN	ORPHA:177901
HP:0002342	Intellectual disability, moderate	4692	NDN	ORPHA:98754
HP:0002342	Intellectual disability, moderate	4692	NDN	ORPHA:177904
HP:0002342	Intellectual disability, moderate	4692	NDN	ORPHA:177901
HP:0002342	Intellectual disability, moderate	54551	MAGEL2	ORPHA:98754
HP:0002342	Intellectual disability, moderate	54551	MAGEL2	ORPHA:177904
HP:0002342	Intellectual disability, moderate	54551	MAGEL2	ORPHA:177901
HP:0002342	Intellectual disability, moderate	4948	OCA2	ORPHA:98754
HP:0002342	Intellectual disability, moderate	4948	OCA2	ORPHA:177904
HP:0002342	Intellectual disability, moderate	4948	OCA2	ORPHA:177901
HP:0002342	Intellectual disability, moderate	23314	SATB2	ORPHA:576283
HP:0002342	Intellectual disability, moderate	8573	CASK	ORPHA:163937
HP:0002342	Intellectual disability, moderate	8573	CASK	OMIM:300749
HP:0002342	Intellectual disability, moderate	111	ADCY5	OMIM:619651
HP:0002342	Intellectual disability, moderate	10735	STAG2	ORPHA:521258
HP:0002342	Intellectual disability, moderate	2961	GTF2E2	OMIM:616943
HP:0002342	Intellectual disability, moderate	10815	CPLX1	ORPHA:352582
HP:0002342	Intellectual disability, moderate	57465	TBC1D24	ORPHA:352582
HP:0002342	Intellectual disability, moderate	4556	MT-TE	ORPHA:2596
HP:0002342	Intellectual disability, moderate	10682	EBP	OMIM:302960
HP:0002342	Intellectual disability, moderate	6567	SLC16A2	ORPHA:59
HP:0002342	Intellectual disability, moderate	3798	KIF5A	ORPHA:100991
HP:0002342	Intellectual disability, moderate	60529	ALX4	ORPHA:228390
HP:0002342	Intellectual disability, moderate	51117	COQ4	OMIM:616276
HP:0002342	Intellectual disability, moderate	55280	CWF19L1	ORPHA:453521
HP:0002342	Intellectual disability, moderate	7319	UBE2A	ORPHA:163956
HP:0002342	Intellectual disability, moderate	2902	GRIN1	ORPHA:208447
HP:0002342	Intellectual disability, moderate	80816	ASXL3	ORPHA:352577
HP:0002342	Intellectual disability, moderate	2261	FGFR3	ORPHA:794
HP:0002342	Intellectual disability, moderate	6323	SCN1A	OMIM:607208
HP:0002342	Intellectual disability, moderate	57526	PCDH19	ORPHA:101039
HP:0002342	Intellectual disability, moderate	57526	PCDH19	OMIM:300088
HP:0002342	Intellectual disability, moderate	3155	HMGCL	ORPHA:20
HP:0002342	Intellectual disability, moderate	10466	COG5	ORPHA:263487
HP:0002342	Intellectual disability, moderate	51621	KLF13	OMIM:612001
HP:0002342	Intellectual disability, moderate	1139	CHRNA7	OMIM:612001
HP:0002342	Intellectual disability, moderate	10765	KDM5B	OMIM:618109
HP:0002342	Intellectual disability, moderate	100151683	RNU4ATAC	ORPHA:353298
HP:0002342	Intellectual disability, moderate	10586	MAB21L2	OMIM:615877
HP:0002342	Intellectual disability, moderate	85358	SHANK3	OMIM:606232
HP:0002342	Intellectual disability, moderate	1950	EGF	OMIM:611718
HP:0002342	Intellectual disability, moderate	170302	ARX	ORPHA:94083
HP:0002342	Intellectual disability, moderate	91147	TMEM67	OMIM:216360
HP:0002342	Intellectual disability, moderate	91147	TMEM67	ORPHA:1454
HP:0002342	Intellectual disability, moderate	51103	NDUFAF1	OMIM:618234
HP:0002342	Intellectual disability, moderate	79133	NDUFAF5	OMIM:618238
HP:0002342	Intellectual disability, moderate	3897	L1CAM	ORPHA:306617
HP:0002342	Intellectual disability, moderate	6301	SARS1	OMIM:617709
HP:0002342	Intellectual disability, moderate	6904	TBCD	ORPHA:496641
HP:0002342	Intellectual disability, moderate	84679	SLC9A7	OMIM:301024
HP:0002342	Intellectual disability, moderate	4810	NHS	OMIM:302350
HP:0002342	Intellectual disability, moderate	24140	FTSJ1	OMIM:309549
HP:0002342	Intellectual disability, moderate	8831	SYNGAP1	ORPHA:544254
HP:0002342	Intellectual disability, moderate	8831	SYNGAP1	OMIM:612621
HP:0002342	Intellectual disability, moderate	166378	AFG2A	ORPHA:457351
HP:0002342	Intellectual disability, moderate	6597	SMARCA4	ORPHA:1465
HP:0002342	Intellectual disability, moderate	6598	SMARCB1	ORPHA:1465
HP:0002342	Intellectual disability, moderate	6659	SOX4	ORPHA:1465
HP:0002342	Intellectual disability, moderate	8289	ARID1A	ORPHA:1465
HP:0002342	Intellectual disability, moderate	5977	DPF2	ORPHA:1465
HP:0002342	Intellectual disability, moderate	6601	SMARCC2	ORPHA:1465
HP:0002342	Intellectual disability, moderate	6602	SMARCD1	ORPHA:1465
HP:0002342	Intellectual disability, moderate	57492	ARID1B	ORPHA:1465
HP:0002342	Intellectual disability, moderate	196528	ARID2	ORPHA:1465
HP:0002342	Intellectual disability, moderate	6605	SMARCE1	ORPHA:1465
HP:0002342	Intellectual disability, moderate	6664	SOX11	ORPHA:1465
HP:0002342	Intellectual disability, moderate	4358	MPV17	OMIM:256810
HP:0002342	Intellectual disability, moderate	3183	HNRNPC	OMIM:620688
HP:0002342	Intellectual disability, moderate	23389	MED13L	ORPHA:369891
HP:0002342	Intellectual disability, moderate	23389	MED13L	OMIM:616789
HP:0002342	Intellectual disability, moderate	64093	SMOC1	ORPHA:1106
HP:0002342	Intellectual disability, moderate	22827	PUF60	ORPHA:508488
HP:0002342	Intellectual disability, moderate	80185	TTI2	OMIM:615541
HP:0002342	Intellectual disability, moderate	80185	TTI2	ORPHA:391307
HP:0002342	Intellectual disability, moderate	5277	PIGA	OMIM:300868
HP:0002342	Intellectual disability, moderate	23322	RPGRIP1L	ORPHA:1454
HP:0002342	Intellectual disability, moderate	57545	CC2D2A	ORPHA:1454
HP:0002342	Intellectual disability, moderate	5723	PSPH	ORPHA:79350
HP:0002342	Intellectual disability, moderate	57187	THOC2	ORPHA:457240
HP:0002342	Intellectual disability, moderate	4204	MECP2	ORPHA:3077
HP:0002342	Intellectual disability, moderate	6874	TAF4	OMIM:620450
HP:0002342	Intellectual disability, moderate	3251	HPRT1	ORPHA:510
HP:0002342	Intellectual disability, moderate	9791	PTDSS1	OMIM:151050
HP:0002342	Intellectual disability, moderate	8812	CCNK	OMIM:618147
HP:0002342	Intellectual disability, moderate	27107	ZBTB11	OMIM:618383
HP:0002342	Intellectual disability, moderate	2892	GRIA3	ORPHA:364028
HP:0002342	Intellectual disability, moderate	1861	TOR1A	OMIM:618947
HP:0002342	Intellectual disability, moderate	131669	UROC1	OMIM:276880
HP:0002342	Intellectual disability, moderate	4983	OPHN1	ORPHA:137831
HP:0002342	Intellectual disability, moderate	527	ATP6V0C	OMIM:620465
HP:0002342	Intellectual disability, moderate	6925	TCF4	ORPHA:2896
HP:0002342	Intellectual disability, moderate	26047	CNTNAP2	ORPHA:163681
HP:0002342	Intellectual disability, moderate	10283	CWC27	ORPHA:166035
HP:0002342	Intellectual disability, moderate	26576	SRPK3	OMIM:301134
HP:0002342	Intellectual disability, moderate	953	ENTPD1	OMIM:615683
HP:0002342	Intellectual disability, moderate	9918	NCAPD2	OMIM:617983
HP:0002342	Intellectual disability, moderate	55755	CDK5RAP2	OMIM:604804
HP:0002342	Intellectual disability, moderate	6472	SHMT2	OMIM:619121
HP:0002342	Intellectual disability, moderate	5075	PAX1	OMIM:615560
HP:0002342	Intellectual disability, moderate	29123	ANKRD11	ORPHA:261250
HP:0002342	Intellectual disability, moderate	207	AKT1	OMIM:176920
HP:0002342	Intellectual disability, moderate	23397	NCAPH	OMIM:617985
HP:0002342	Intellectual disability, moderate	8450	CUL4B	ORPHA:85293
HP:0002342	Intellectual disability, moderate	5495	PPM1B	ORPHA:163693
HP:0002342	Intellectual disability, moderate	6519	SLC3A1	ORPHA:163693
HP:0002342	Intellectual disability, moderate	9581	PREPL	ORPHA:163693
HP:0002342	Intellectual disability, moderate	79823	CAMKMT	ORPHA:163693
HP:0002342	Intellectual disability, moderate	54888	NSUN2	OMIM:611091
HP:0002342	Intellectual disability, moderate	4081	MAB21L1	ORPHA:495875
HP:0002342	Intellectual disability, moderate	5528	PPP2R5D	ORPHA:457279
HP:0002342	Intellectual disability, moderate	89970	RSPRY1	ORPHA:457395
HP:0002342	Intellectual disability, moderate	55835	CPAP	OMIM:608393
HP:0002342	Intellectual disability, moderate	84668	HYCC1	ORPHA:85163
HP:0002342	Intellectual disability, moderate	64131	XYLT1	ORPHA:370930
HP:0002342	Intellectual disability, moderate	9203	ZMYM3	OMIM:301111
HP:0002342	Intellectual disability, moderate	23040	MYT1L	ORPHA:647799
HP:0002342	Intellectual disability, moderate	11141	IL1RAPL1	OMIM:300143
HP:0002342	Intellectual disability, moderate	7543	ZFX	OMIM:301118
HP:0002342	Intellectual disability, moderate	51109	RDH11	ORPHA:436245
HP:0002342	Intellectual disability, moderate	10369	CACNG2	OMIM:614256
HP:0002342	Intellectual disability, moderate	284217	LAMA1	ORPHA:370022
HP:0002342	Intellectual disability, moderate	23443	SLC35A3	ORPHA:370943
HP:0000764	Peripheral axonal degeneration	23064	SETX	OMIM:602433
HP:0000764	Peripheral axonal degeneration	79628	SH3TC2	OMIM:601596
HP:0000764	Peripheral axonal degeneration	54332	GDAP1	OMIM:607706
HP:0000764	Peripheral axonal degeneration	54332	GDAP1	OMIM:214400
HP:0000764	Peripheral axonal degeneration	54332	GDAP1	ORPHA:101097
HP:0000764	Peripheral axonal degeneration	10801	SEPTIN9	OMIM:162100
HP:0000764	Peripheral axonal degeneration	9150	CTDP1	OMIM:604168
HP:0000764	Peripheral axonal degeneration	215	ABCD1	ORPHA:139399
HP:0000764	Peripheral axonal degeneration	2705	GJB1	OMIM:302800
HP:0000764	Peripheral axonal degeneration	54902	TTC19	OMIM:615157
HP:0000764	Peripheral axonal degeneration	54840	APTX	OMIM:208920
HP:0000764	Peripheral axonal degeneration	90678	LRSAM1	OMIM:614436
HP:0000764	Peripheral axonal degeneration	3508	IGHMBP2	OMIM:604320
HP:0000764	Peripheral axonal degeneration	1785	DNM2	OMIM:606482
HP:0000764	Peripheral axonal degeneration	7879	RAB7A	OMIM:600882
HP:0000764	Peripheral axonal degeneration	4359	MPZ	OMIM:607736
HP:0000764	Peripheral axonal degeneration	4359	MPZ	OMIM:607677
HP:0000764	Peripheral axonal degeneration	4359	MPZ	OMIM:607791
HP:0000764	Peripheral axonal degeneration	4000	LMNA	OMIM:605588
HP:0000764	Peripheral axonal degeneration	23095	KIF1B	OMIM:118210
HP:0000764	Peripheral axonal degeneration	9927	MFN2	OMIM:609260
HP:0000764	Peripheral axonal degeneration	9927	MFN2	OMIM:601152
HP:0000764	Peripheral axonal degeneration	9990	SLC12A6	OMIM:218000
HP:0000764	Peripheral axonal degeneration	8729	GBF1	OMIM:606483
HP:0000764	Peripheral axonal degeneration	9131	AIFM1	ORPHA:238329
HP:0000764	Peripheral axonal degeneration	9131	AIFM1	OMIM:300614
HP:0000764	Peripheral axonal degeneration	9131	AIFM1	OMIM:310490
HP:0000764	Peripheral axonal degeneration	23646	PLD3	OMIM:617770
HP:0000764	Peripheral axonal degeneration	3094	HINT1	ORPHA:324442
HP:0000764	Peripheral axonal degeneration	3094	HINT1	OMIM:137200
HP:0000764	Peripheral axonal degeneration	25923	ATL3	OMIM:615632
HP:0000764	Peripheral axonal degeneration	391356	PTRHD1	OMIM:620747
HP:0000764	Peripheral axonal degeneration	4744	NEFH	OMIM:616924
HP:0000764	Peripheral axonal degeneration	4762	NEUROG1	OMIM:620469
HP:0000764	Peripheral axonal degeneration	2259	FGF14	ORPHA:98764
HP:0000764	Peripheral axonal degeneration	25894	PLEKHG4	ORPHA:98765
HP:0000764	Peripheral axonal degeneration	57165	GJC2	OMIM:608804
HP:0000764	Peripheral axonal degeneration	7084	TK2	ORPHA:254886
HP:0000764	Peripheral axonal degeneration	3074	HEXB	ORPHA:309169
HP:0000764	Peripheral axonal degeneration	6472	SHMT2	OMIM:619121
HP:0000764	Peripheral axonal degeneration	63895	PIEZO2	OMIM:617146
HP:0000764	Peripheral axonal degeneration	219285	SAMD9L	OMIM:619806
HP:0000764	Peripheral axonal degeneration	3178	HNRNPA1	ORPHA:52430
HP:0000764	Peripheral axonal degeneration	3181	HNRNPA2B1	ORPHA:52430
HP:0000764	Peripheral axonal degeneration	51	ACOX1	OMIM:618960
HP:0000764	Peripheral axonal degeneration	116228	COX20	OMIM:619054
HP:0000764	Peripheral axonal degeneration	7518	XRCC4	OMIM:616541
HP:0000764	Peripheral axonal degeneration	1509	CTSD	OMIM:610127
HP:0000764	Peripheral axonal degeneration	823	CAPN1	OMIM:616907
HP:0000764	Peripheral axonal degeneration	8139	GAN	OMIM:256850
HP:0000764	Peripheral axonal degeneration	8449	DHX16	OMIM:618733
HP:0000764	Peripheral axonal degeneration	144165	PRICKLE1	OMIM:612437
HP:0000764	Peripheral axonal degeneration	2395	FXN	ORPHA:95
HP:0000764	Peripheral axonal degeneration	4976	OPA1	OMIM:210000
HP:0000764	Peripheral axonal degeneration	54936	ADPRS	OMIM:618170
HP:0000764	Peripheral axonal degeneration	10397	NDRG1	OMIM:601455
HP:0000764	Peripheral axonal degeneration	5376	PMP22	OMIM:118300
HP:0000764	Peripheral axonal degeneration	7305	TYROBP	OMIM:221770
HP:0000764	Peripheral axonal degeneration	6834	SURF1	OMIM:616684
HP:0000764	Peripheral axonal degeneration	29978	UBQLN2	OMIM:300857
HP:0000764	Peripheral axonal degeneration	7343	UBTF	OMIM:617672
HP:0000764	Peripheral axonal degeneration	64423	INF2	OMIM:614455
HP:0000764	Peripheral axonal degeneration	4337	MOCS1	OMIM:252150
HP:0000764	Peripheral axonal degeneration	5981	RFC1	OMIM:614575
HP:0000764	Peripheral axonal degeneration	4338	MOCS2	OMIM:252160
HP:0000764	Peripheral axonal degeneration	51008	ASCC1	OMIM:616867
HP:0000764	Peripheral axonal degeneration	9325	TRIP4	OMIM:616866
HP:0000764	Peripheral axonal degeneration	9896	FIG4	OMIM:611228
HP:0000764	Peripheral axonal degeneration	9531	BAG3	OMIM:612954
HP:0000764	Peripheral axonal degeneration	55768	NGLY1	ORPHA:404454
HP:0000764	Peripheral axonal degeneration	56704	JPH1	OMIM:607831
HP:0000764	Peripheral axonal degeneration	59345	GNB4	OMIM:615185
HP:0000764	Peripheral axonal degeneration	8565	YARS1	OMIM:608323
HP:0000764	Peripheral axonal degeneration	3098	HK1	OMIM:605285
HP:0000764	Peripheral axonal degeneration	291	SLC25A4	ORPHA:254892
HP:0000764	Peripheral axonal degeneration	5428	POLG	ORPHA:254892
HP:0000764	Peripheral axonal degeneration	5428	POLG	ORPHA:298
HP:0000764	Peripheral axonal degeneration	5428	POLG	OMIM:607459
HP:0000764	Peripheral axonal degeneration	56652	TWNK	ORPHA:254892
HP:0000764	Peripheral axonal degeneration	56652	TWNK	OMIM:607459
HP:0000764	Peripheral axonal degeneration	11232	POLG2	ORPHA:254892
HP:0000764	Peripheral axonal degeneration	11232	POLG2	OMIM:619425
HP:0000764	Peripheral axonal degeneration	50484	RRM2B	ORPHA:254892
HP:0000764	Peripheral axonal degeneration	50484	RRM2B	ORPHA:298
HP:0000764	Peripheral axonal degeneration	9488	PIGB	OMIM:618580
HP:0000764	Peripheral axonal degeneration	4141	MARS1	OMIM:616280
HP:0000764	Peripheral axonal degeneration	4558	MT-TF	ORPHA:550
HP:0000764	Peripheral axonal degeneration	4572	MT-TQ	ORPHA:550
HP:0000764	Peripheral axonal degeneration	4512	MT-CO1	ORPHA:550
HP:0000764	Peripheral axonal degeneration	4513	MT-CO2	ORPHA:550
HP:0000764	Peripheral axonal degeneration	4514	MT-CO3	ORPHA:550
HP:0000764	Peripheral axonal degeneration	4578	MT-TW	ORPHA:550
HP:0000764	Peripheral axonal degeneration	4540	MT-ND5	ORPHA:550
HP:0000764	Peripheral axonal degeneration	4541	MT-ND6	ORPHA:550
HP:0000764	Peripheral axonal degeneration	4535	MT-ND1	ORPHA:550
HP:0000764	Peripheral axonal degeneration	4538	MT-ND4	ORPHA:550
HP:0000764	Peripheral axonal degeneration	4567	MT-TL1	ORPHA:550
HP:0000764	Peripheral axonal degeneration	4574	MT-TS1	ORPHA:550
HP:0000764	Peripheral axonal degeneration	4575	MT-TS2	ORPHA:550
HP:0000764	Peripheral axonal degeneration	4564	MT-TH	ORPHA:550
HP:0000764	Peripheral axonal degeneration	23769	FLRT1	ORPHA:320406
HP:0000764	Peripheral axonal degeneration	64837	KLC2	ORPHA:320406
HP:0000764	Peripheral axonal degeneration	91574	MTRFR	ORPHA:254930
HP:0000764	Peripheral axonal degeneration	91574	MTRFR	OMIM:615035
HP:0000764	Peripheral axonal degeneration	1161	ERCC8	ORPHA:90324
HP:0000764	Peripheral axonal degeneration	2074	ERCC6	ORPHA:90324
HP:0000764	Peripheral axonal degeneration	80821	DDHD1	OMIM:609340
HP:0000764	Peripheral axonal degeneration	50717	DCAF8	OMIM:610100
HP:0000764	Peripheral axonal degeneration	57704	GBA2	ORPHA:352641
HP:0000764	Peripheral axonal degeneration	57704	GBA2	ORPHA:320391
HP:0000764	Peripheral axonal degeneration	673	BRAF	OMIM:115150
HP:0000764	Peripheral axonal degeneration	19	ABCA1	OMIM:205400
HP:0000764	Peripheral axonal degeneration	19	ABCA1	ORPHA:31150
HP:0000764	Peripheral axonal degeneration	4508	MT-ATP6	ORPHA:320360
HP:0000764	Peripheral axonal degeneration	4747	NEFL	ORPHA:99939
HP:0000764	Peripheral axonal degeneration	5361	PLXNA1	OMIM:619955
HP:0000764	Peripheral axonal degeneration	23345	SYNE1	OMIM:610743
HP:0000764	Peripheral axonal degeneration	10516	FBLN5	OMIM:608895
HP:0000764	Peripheral axonal degeneration	274	BIN1	ORPHA:169189
HP:0000764	Peripheral axonal degeneration	64419	MTMR14	ORPHA:169189
HP:0000764	Peripheral axonal degeneration	4618	MYF6	ORPHA:169189
HP:0000764	Peripheral axonal degeneration	6261	RYR1	ORPHA:169189
HP:0000764	Peripheral axonal degeneration	59341	TRPV4	OMIM:156530
HP:0000764	Peripheral axonal degeneration	200205	IBA57	ORPHA:468661
HP:0000764	Peripheral axonal degeneration	200205	IBA57	OMIM:616451
HP:0000764	Peripheral axonal degeneration	55187	VPS13D	OMIM:607317
HP:0000764	Peripheral axonal degeneration	81790	RNF170	OMIM:619686
HP:0000764	Peripheral axonal degeneration	478	ATP1A3	OMIM:601338
HP:0000764	Peripheral axonal degeneration	55182	RNF220	OMIM:619688
HP:0000764	Peripheral axonal degeneration	6905	TBCE	ORPHA:496756
HP:0000764	Peripheral axonal degeneration	6905	TBCE	OMIM:617207
HP:0000764	Peripheral axonal degeneration	547	KIF1A	OMIM:610357
HP:0000764	Peripheral axonal degeneration	547	KIF1A	OMIM:614255
HP:0000764	Peripheral axonal degeneration	10908	PNPLA6	OMIM:275400
HP:0000764	Peripheral axonal degeneration	5660	PSAP	OMIM:611722
HP:0000764	Peripheral axonal degeneration	271	AMPD2	OMIM:615809
HP:0000764	Peripheral axonal degeneration	3767	KCNJ11	ORPHA:99885
HP:0000764	Peripheral axonal degeneration	6774	STAT3	ORPHA:99885
HP:0000764	Peripheral axonal degeneration	2645	GCK	ORPHA:99885
HP:0000764	Peripheral axonal degeneration	3651	PDX1	ORPHA:99885
HP:0000764	Peripheral axonal degeneration	6833	ABCC8	ORPHA:99885
HP:0000764	Peripheral axonal degeneration	3630	INS	ORPHA:99885
HP:0000764	Peripheral axonal degeneration	1890	TYMP	ORPHA:298
HP:0000764	Peripheral axonal degeneration	3980	LIG3	ORPHA:298
HP:0000764	Peripheral axonal degeneration	8888	MCM3AP	OMIM:618124
HP:0000764	Peripheral axonal degeneration	23250	ATP11A	OMIM:619851
HP:0000764	Peripheral axonal degeneration	23321	TRIM2	OMIM:615490
HP:0000764	Peripheral axonal degeneration	4358	MPV17	OMIM:618400
HP:0000764	Peripheral axonal degeneration	4358	MPV17	OMIM:256810
HP:0000764	Peripheral axonal degeneration	10381	TUBB3	OMIM:600638
HP:0000764	Peripheral axonal degeneration	1778	DYNC1H1	OMIM:614563
HP:0000764	Peripheral axonal degeneration	55157	DARS2	ORPHA:137898
HP:0000764	Peripheral axonal degeneration	55157	DARS2	OMIM:611105
HP:0000764	Peripheral axonal degeneration	91137	SLC25A46	OMIM:616505
HP:0000764	Peripheral axonal degeneration	91137	SLC25A46	ORPHA:2254
HP:0000764	Peripheral axonal degeneration	54463	RETREG1	OMIM:613115
HP:0000764	Peripheral axonal degeneration	8398	PLA2G6	ORPHA:35069
HP:0000764	Peripheral axonal degeneration	5351	PLOD1	ORPHA:1900
HP:0000764	Peripheral axonal degeneration	10939	AFG3L2	ORPHA:313772
HP:0000764	Peripheral axonal degeneration	7276	TTR	OMIM:105210
HP:0000764	Peripheral axonal degeneration	2632	GBE1	OMIM:263570
HP:0000764	Peripheral axonal degeneration	10367	MICU1	ORPHA:401768
HP:0000764	Peripheral axonal degeneration	10367	MICU1	OMIM:615673
HP:0000764	Peripheral axonal degeneration	23400	ATP13A2	ORPHA:513436
HP:0000764	Peripheral axonal degeneration	23400	ATP13A2	OMIM:617225
HP:0000764	Peripheral axonal degeneration	2064	ERBB2	OMIM:619465
HP:0000764	Peripheral axonal degeneration	80208	SPG11	ORPHA:2822
HP:0000764	Peripheral axonal degeneration	80208	SPG11	OMIM:616668
HP:0000764	Peripheral axonal degeneration	55775	TDP1	OMIM:607250
HP:0000764	Peripheral axonal degeneration	23230	VPS13A	ORPHA:2388
HP:0000764	Peripheral axonal degeneration	23230	VPS13A	OMIM:200150
HP:0000764	Peripheral axonal degeneration	55210	ATAD3A	OMIM:618810
HP:0000764	Peripheral axonal degeneration	55210	ATAD3A	ORPHA:496790
HP:0000764	Peripheral axonal degeneration	55210	ATAD3A	OMIM:617183
HP:0000764	Peripheral axonal degeneration	2783	GNB2	OMIM:619503
HP:0000764	Peripheral axonal degeneration	3475	IFRD1	ORPHA:98771
HP:0000764	Peripheral axonal degeneration	3735	KARS1	OMIM:619196
HP:0000764	Peripheral axonal degeneration	9997	SCO2	OMIM:604377
HP:0000764	Peripheral axonal degeneration	113612	CYP2U1	OMIM:615030
HP:0000764	Peripheral axonal degeneration	113612	CYP2U1	ORPHA:320411
HP:0000764	Peripheral axonal degeneration	65260	COA7	OMIM:618387
HP:0000764	Peripheral axonal degeneration	7415	VCP	ORPHA:435387
HP:0000764	Peripheral axonal degeneration	3845	KRAS	OMIM:615278
HP:0000764	Peripheral axonal degeneration	1660	DHX9	OMIM:620988
HP:0000764	Peripheral axonal degeneration	11340	EXOSC8	ORPHA:2254
HP:0000764	Peripheral axonal degeneration	5393	EXOSC9	ORPHA:2254
HP:0000764	Peripheral axonal degeneration	23287	AGTPBP1	ORPHA:2254
HP:0000764	Peripheral axonal degeneration	51010	EXOSC3	ORPHA:2254
HP:0000764	Peripheral axonal degeneration	7443	VRK1	ORPHA:2254
HP:0000764	Peripheral axonal degeneration	4287	ATXN3	ORPHA:276244
HP:0000764	Peripheral axonal degeneration	60481	ELOVL5	OMIM:615957
HP:0000764	Peripheral axonal degeneration	7345	UCHL1	OMIM:620221
HP:0000764	Peripheral axonal degeneration	23503	ZFYVE26	OMIM:270700
HP:0000764	Peripheral axonal degeneration	23503	ZFYVE26	ORPHA:100996
HP:0000764	Peripheral axonal degeneration	4311	MME	ORPHA:497764
HP:0000764	Peripheral axonal degeneration	3766	KCNJ10	ORPHA:199343
HP:0000764	Peripheral axonal degeneration	55958	KLHL9	ORPHA:399081
HP:0000764	Peripheral axonal degeneration	4076	CAPRIN1	OMIM:620636
HP:0000764	Peripheral axonal degeneration	6785	ELOVL4	OMIM:133190
HP:0000764	Peripheral axonal degeneration	51062	ATL1	OMIM:613708
HP:0000764	Peripheral axonal degeneration	80347	COASY	ORPHA:397725
HP:0000764	Peripheral axonal degeneration	22880	MORC2	OMIM:619090
HP:0000764	Peripheral axonal degeneration	1716	DGUOK	OMIM:617070
HP:0000764	Peripheral axonal degeneration	9147	NEMF	OMIM:619099
HP:0000764	Peripheral axonal degeneration	6709	SPTAN1	OMIM:620528
HP:0000764	Peripheral axonal degeneration	6709	SPTAN1	OMIM:620538
HP:0000764	Peripheral axonal degeneration	2733	GLE1	OMIM:611890
HP:0000764	Peripheral axonal degeneration	60386	SLC25A19	OMIM:613710
HP:0000764	Peripheral axonal degeneration	23533	PIK3R5	OMIM:615217
HP:0000764	Peripheral axonal degeneration	57731	SPTBN4	OMIM:617519
HP:0000764	Peripheral axonal degeneration	5832	ALDH18A1	ORPHA:447757
HP:0000764	Peripheral axonal degeneration	4556	MT-TE	ORPHA:2596
HP:0000764	Peripheral axonal degeneration	710	SERPING1	OMIM:106100
HP:0000764	Peripheral axonal degeneration	26353	HSPB8	OMIM:608673
HP:0000764	Peripheral axonal degeneration	4668	NAGA	OMIM:609242
HP:0000764	Peripheral axonal degeneration	5631	PRPS1	OMIM:300661
HP:0000764	Peripheral axonal degeneration	3798	KIF5A	ORPHA:100991
HP:0000764	Peripheral axonal degeneration	27072	VPS41	OMIM:619389
HP:0000764	Peripheral axonal degeneration	7466	WFS1	ORPHA:411590
HP:0000764	Peripheral axonal degeneration	22948	CCT5	OMIM:256840
HP:0000764	Peripheral axonal degeneration	16	AARS1	OMIM:613287
HP:0000764	Peripheral axonal degeneration	3315	HSPB1	ORPHA:99940
HP:0000764	Peripheral axonal degeneration	65055	REEP1	OMIM:620011
HP:0000764	Peripheral axonal degeneration	6904	TBCD	ORPHA:496641
HP:0000764	Peripheral axonal degeneration	64856	VWA1	OMIM:619216
HP:0000764	Peripheral axonal degeneration	3839	KPNA3	OMIM:620106
HP:0000764	Peripheral axonal degeneration	29926	GMPPA	ORPHA:869
HP:0000764	Peripheral axonal degeneration	60684	TRAPPC11	ORPHA:869
HP:0000764	Peripheral axonal degeneration	8086	AAAS	ORPHA:869
HP:0000764	Peripheral axonal degeneration	8086	AAAS	OMIM:231550
HP:0000764	Peripheral axonal degeneration	57599	WDR48	ORPHA:401800
HP:0000764	Peripheral axonal degeneration	6687	SPG7	ORPHA:35689
HP:0000764	Peripheral axonal degeneration	7504	XK	OMIM:300842
HP:0000764	Peripheral axonal degeneration	83636	C19orf12	OMIM:614298
HP:0000764	Peripheral axonal degeneration	51305	KCNK9	ORPHA:166108
HP:0000764	Peripheral axonal degeneration	7453	WARS1	OMIM:617721
HP:0000764	Peripheral axonal degeneration	5192	PEX10	OMIM:614871
HP:0000764	Peripheral axonal degeneration	5192	PEX10	ORPHA:247815
HP:0000764	Peripheral axonal degeneration	3035	HARS1	ORPHA:488333
HP:0000764	Peripheral axonal degeneration	26834	RNU4-2	OMIM:620851
HP:0000764	Peripheral axonal degeneration	3145	HMBS	ORPHA:79276
HP:0000764	Peripheral axonal degeneration	10558	SPTLC1	ORPHA:36386
HP:0000764	Peripheral axonal degeneration	9517	SPTLC2	ORPHA:36386
HP:0000764	Peripheral axonal degeneration	84342	COG8	ORPHA:95428
HP:0000764	Peripheral axonal degeneration	84342	COG8	OMIM:611182
HP:0000764	Peripheral axonal degeneration	28982	FLVCR1	ORPHA:88628
HP:0000764	Peripheral axonal degeneration	1593	CYP27A1	ORPHA:909
HP:0000764	Peripheral axonal degeneration	25828	TXN2	ORPHA:478029
HP:0000764	Peripheral axonal degeneration	25828	TXN2	OMIM:616811
HP:0000764	Peripheral axonal degeneration	3908	LAMA2	OMIM:618138
HP:0000764	Peripheral axonal degeneration	89874	SLC25A21	OMIM:618811
HP:0000764	Peripheral axonal degeneration	10342	TFG	OMIM:604484
HP:0012600	Abnormal urine chloride concentration	6557	SLC12A1	OMIM:601678
HP:0012600	Abnormal urine chloride concentration	1187	CLCNKA	OMIM:613090
HP:0012600	Abnormal urine chloride concentration	1188	CLCNKB	OMIM:613090
HP:0012600	Abnormal urine chloride concentration	1188	CLCNKB	OMIM:607364
HP:0012600	Abnormal urine chloride concentration	7809	BSND	OMIM:602522
HP:0012600	Abnormal urine chloride concentration	3758	KCNJ1	OMIM:241200
HP:0012603	Abnormal urine sodium concentration	3291	HSD11B2	ORPHA:320
HP:0012603	Abnormal urine sodium concentration	1583	CYP11A1	ORPHA:289548
HP:0012603	Abnormal urine sodium concentration	1583	CYP11A1	ORPHA:168558
HP:0012603	Abnormal urine sodium concentration	56246	MRAP	ORPHA:361
HP:0012603	Abnormal urine sodium concentration	6770	STAR	ORPHA:361
HP:0012603	Abnormal urine sodium concentration	4158	MC2R	ORPHA:361
HP:0012603	Abnormal urine sodium concentration	23530	NNT	ORPHA:361
HP:0012603	Abnormal urine sodium concentration	10587	TXNRD2	ORPHA:361
HP:0012603	Abnormal urine sodium concentration	1187	CLCNKA	OMIM:613090
HP:0012603	Abnormal urine sodium concentration	1188	CLCNKB	OMIM:613090
HP:0012603	Abnormal urine sodium concentration	7809	BSND	OMIM:602522
HP:0012603	Abnormal urine sodium concentration	554	AVPR2	OMIM:300539
HP:0012603	Abnormal urine sodium concentration	3766	KCNJ10	ORPHA:199343
HP:0012603	Abnormal urine sodium concentration	3766	KCNJ10	OMIM:612780
HP:0012603	Abnormal urine sodium concentration	1585	CYP11B2	ORPHA:556030
HP:0012603	Abnormal urine sodium concentration	1962	EHHADH	ORPHA:3337
HP:0012603	Abnormal urine sodium concentration	2628	GATM	ORPHA:3337
HP:0012603	Abnormal urine sodium concentration	137682	NDUFAF6	ORPHA:3337
HP:0012603	Abnormal urine sodium concentration	6569	SLC34A1	ORPHA:3337
HP:0012603	Abnormal urine sodium concentration	29927	SEC61A1	OMIM:617056
HP:0012605	Hypernatriuria	1583	CYP11A1	ORPHA:289548
HP:0012605	Hypernatriuria	1583	CYP11A1	ORPHA:168558
HP:0012605	Hypernatriuria	56246	MRAP	ORPHA:361
HP:0012605	Hypernatriuria	6770	STAR	ORPHA:361
HP:0012605	Hypernatriuria	4158	MC2R	ORPHA:361
HP:0012605	Hypernatriuria	23530	NNT	ORPHA:361
HP:0012605	Hypernatriuria	10587	TXNRD2	ORPHA:361
HP:0012605	Hypernatriuria	1187	CLCNKA	OMIM:613090
HP:0012605	Hypernatriuria	1188	CLCNKB	OMIM:613090
HP:0012605	Hypernatriuria	7809	BSND	OMIM:602522
HP:0012605	Hypernatriuria	554	AVPR2	OMIM:300539
HP:0012606	Renal sodium wasting	3291	HSD11B2	ORPHA:320
HP:0012606	Renal sodium wasting	3766	KCNJ10	ORPHA:199343
HP:0012606	Renal sodium wasting	3766	KCNJ10	OMIM:612780
HP:0012606	Renal sodium wasting	1585	CYP11B2	ORPHA:556030
HP:0012606	Renal sodium wasting	1962	EHHADH	ORPHA:3337
HP:0012606	Renal sodium wasting	2628	GATM	ORPHA:3337
HP:0012606	Renal sodium wasting	137682	NDUFAF6	ORPHA:3337
HP:0012606	Renal sodium wasting	6569	SLC34A1	ORPHA:3337
HP:0012606	Renal sodium wasting	29927	SEC61A1	OMIM:617056
HP:0012607	Abnormal urine magnesium concentration	149461	CLDN19	OMIM:248190
HP:0012607	Abnormal urine magnesium concentration	3766	KCNJ10	ORPHA:199343
HP:0012607	Abnormal urine magnesium concentration	476	ATP1A1	OMIM:618314
HP:0012607	Abnormal urine magnesium concentration	476	ATP1A1	ORPHA:564178
HP:0012607	Abnormal urine magnesium concentration	10686	CLDN16	OMIM:248250
HP:0012607	Abnormal urine magnesium concentration	6559	SLC12A3	OMIM:263800
HP:0012607	Abnormal urine magnesium concentration	486	FXYD2	OMIM:154020
HP:0012607	Abnormal urine magnesium concentration	55764	IFT122	OMIM:218330
HP:0012607	Abnormal urine magnesium concentration	2767	GNA11	ORPHA:428
HP:0012607	Abnormal urine magnesium concentration	846	CASR	ORPHA:428
HP:0012608	Hypermagnesiuria	149461	CLDN19	OMIM:248190
HP:0012608	Hypermagnesiuria	10686	CLDN16	OMIM:248250
HP:0012608	Hypermagnesiuria	2767	GNA11	ORPHA:428
HP:0012608	Hypermagnesiuria	846	CASR	ORPHA:428
HP:0007307	Rapid neurologic deterioration	285362	SUMF1	ORPHA:585
HP:0007307	Rapid neurologic deterioration	285362	SUMF1	OMIM:272200
HP:0007308	Extrapyramidal dyskinesia	38	ACAT1	ORPHA:134
HP:0007308	Extrapyramidal dyskinesia	80746	TSEN2	OMIM:612389
HP:0007308	Extrapyramidal dyskinesia	283989	TSEN54	OMIM:277470
HP:0007308	Extrapyramidal dyskinesia	1807	DPYS	OMIM:222748
HP:0007308	Extrapyramidal dyskinesia	203228	C9orf72	OMIM:105550
HP:0007308	Extrapyramidal dyskinesia	6513	SLC2A1	ORPHA:71277
HP:0000932	Abnormal posterior cranial fossa morphology	9839	ZEB2	ORPHA:261537
HP:0000932	Abnormal posterior cranial fossa morphology	9839	ZEB2	ORPHA:261552
HP:0000932	Abnormal posterior cranial fossa morphology	23556	PIGN	ORPHA:280633
HP:0000932	Abnormal posterior cranial fossa morphology	1387	CREBBP	ORPHA:353281
HP:0000932	Abnormal posterior cranial fossa morphology	1387	CREBBP	ORPHA:353277
HP:0000932	Abnormal posterior cranial fossa morphology	4488	MSX2	ORPHA:60015
HP:0000932	Abnormal posterior cranial fossa morphology	60529	ALX4	ORPHA:60015
HP:0000932	Abnormal posterior cranial fossa morphology	91869	RFT1	ORPHA:244310
HP:0000932	Abnormal posterior cranial fossa morphology	2033	EP300	ORPHA:353284
HP:0000932	Abnormal posterior cranial fossa morphology	27077	B9D1	OMIM:614209
HP:0000932	Abnormal posterior cranial fossa morphology	10682	EBP	ORPHA:401973
HP:0000932	Abnormal posterior cranial fossa morphology	10682	EBP	OMIM:300960
HP:0000932	Abnormal posterior cranial fossa morphology	10682	EBP	OMIM:302960
HP:0000932	Abnormal posterior cranial fossa morphology	56896	DPYSL5	OMIM:619435
HP:0000932	Abnormal posterior cranial fossa morphology	56896	DPYSL5	ORPHA:7
HP:0000932	Abnormal posterior cranial fossa morphology	3265	HRAS	ORPHA:2612
HP:0000932	Abnormal posterior cranial fossa morphology	3845	KRAS	ORPHA:2612
HP:0000932	Abnormal posterior cranial fossa morphology	3845	KRAS	OMIM:609942
HP:0000932	Abnormal posterior cranial fossa morphology	4893	NRAS	ORPHA:2612
HP:0000932	Abnormal posterior cranial fossa morphology	4893	NRAS	OMIM:249400
HP:0000932	Abnormal posterior cranial fossa morphology	7355	SLC35A2	ORPHA:356961
HP:0000932	Abnormal posterior cranial fossa morphology	65062	TMEM237	OMIM:614424
HP:0000932	Abnormal posterior cranial fossa morphology	65062	TMEM237	ORPHA:564
HP:0000932	Abnormal posterior cranial fossa morphology	7545	ZIC1	OMIM:616602
HP:0000932	Abnormal posterior cranial fossa morphology	7545	ZIC1	OMIM:618736
HP:0000932	Abnormal posterior cranial fossa morphology	84942	WDR73	OMIM:251300
HP:0000932	Abnormal posterior cranial fossa morphology	2737	GLI3	ORPHA:36
HP:0000932	Abnormal posterior cranial fossa morphology	374654	KIF7	ORPHA:36
HP:0000932	Abnormal posterior cranial fossa morphology	9786	KIAA0586	ORPHA:397715
HP:0000932	Abnormal posterior cranial fossa morphology	57465	TBC1D24	OMIM:220500
HP:0000932	Abnormal posterior cranial fossa morphology	57465	TBC1D24	ORPHA:79500
HP:0000932	Abnormal posterior cranial fossa morphology	55112	DYNC2I1	ORPHA:93271
HP:0000932	Abnormal posterior cranial fossa morphology	57560	IFT80	ORPHA:93271
HP:0000932	Abnormal posterior cranial fossa morphology	57539	WDR35	ORPHA:93271
HP:0000932	Abnormal posterior cranial fossa morphology	79659	DYNC2H1	ORPHA:93271
HP:0000932	Abnormal posterior cranial fossa morphology	89891	DYNC2I2	ORPHA:93271
HP:0000932	Abnormal posterior cranial fossa morphology	1436	CSF1R	OMIM:618476
HP:0000932	Abnormal posterior cranial fossa morphology	84162	BLTP1	OMIM:617822
HP:0000932	Abnormal posterior cranial fossa morphology	4081	MAB21L1	OMIM:618479
HP:0000932	Abnormal posterior cranial fossa morphology	4081	MAB21L1	ORPHA:495875
HP:0000932	Abnormal posterior cranial fossa morphology	51259	TMEM216	OMIM:603194
HP:0000932	Abnormal posterior cranial fossa morphology	51259	TMEM216	ORPHA:564
HP:0000932	Abnormal posterior cranial fossa morphology	55636	CHD7	ORPHA:138
HP:0000932	Abnormal posterior cranial fossa morphology	9723	SEMA3E	ORPHA:138
HP:0000932	Abnormal posterior cranial fossa morphology	84892	POMGNT2	ORPHA:899
HP:0000932	Abnormal posterior cranial fossa morphology	148789	B3GALNT2	ORPHA:899
HP:0000932	Abnormal posterior cranial fossa morphology	1282	COL4A1	ORPHA:899
HP:0000932	Abnormal posterior cranial fossa morphology	729920	CRPPA	ORPHA:899
HP:0000932	Abnormal posterior cranial fossa morphology	729920	CRPPA	OMIM:614643
HP:0000932	Abnormal posterior cranial fossa morphology	10329	RXYLT1	ORPHA:899
HP:0000932	Abnormal posterior cranial fossa morphology	1605	DAG1	ORPHA:899
HP:0000932	Abnormal posterior cranial fossa morphology	11041	B4GAT1	ORPHA:899
HP:0000932	Abnormal posterior cranial fossa morphology	11041	B4GAT1	OMIM:615287
HP:0000932	Abnormal posterior cranial fossa morphology	84197	POMK	ORPHA:899
HP:0000932	Abnormal posterior cranial fossa morphology	55624	POMGNT1	ORPHA:899
HP:0000932	Abnormal posterior cranial fossa morphology	79068	FTO	OMIM:612938
HP:0000932	Abnormal posterior cranial fossa morphology	57492	ARID1B	OMIM:135900
HP:0000932	Abnormal posterior cranial fossa morphology	57492	ARID1B	ORPHA:1465
HP:0000932	Abnormal posterior cranial fossa morphology	3899	AFF3	OMIM:619297
HP:0000932	Abnormal posterior cranial fossa morphology	25885	POLR1A	OMIM:616462
HP:0000932	Abnormal posterior cranial fossa morphology	6597	SMARCA4	ORPHA:1465
HP:0000932	Abnormal posterior cranial fossa morphology	6597	SMARCA4	OMIM:614609
HP:0000932	Abnormal posterior cranial fossa morphology	6598	SMARCB1	ORPHA:1465
HP:0000932	Abnormal posterior cranial fossa morphology	6598	SMARCB1	OMIM:614608
HP:0000932	Abnormal posterior cranial fossa morphology	6659	SOX4	ORPHA:1465
HP:0000932	Abnormal posterior cranial fossa morphology	8289	ARID1A	ORPHA:1465
HP:0000932	Abnormal posterior cranial fossa morphology	8289	ARID1A	OMIM:614607
HP:0000932	Abnormal posterior cranial fossa morphology	5977	DPF2	ORPHA:1465
HP:0000932	Abnormal posterior cranial fossa morphology	6601	SMARCC2	ORPHA:1465
HP:0000932	Abnormal posterior cranial fossa morphology	6602	SMARCD1	ORPHA:1465
HP:0000932	Abnormal posterior cranial fossa morphology	196528	ARID2	ORPHA:1465
HP:0000932	Abnormal posterior cranial fossa morphology	6605	SMARCE1	ORPHA:1465
HP:0000932	Abnormal posterior cranial fossa morphology	6605	SMARCE1	OMIM:616938
HP:0000932	Abnormal posterior cranial fossa morphology	6664	SOX11	ORPHA:1465
HP:0000932	Abnormal posterior cranial fossa morphology	23545	ATP6V0A2	ORPHA:2834
HP:0000932	Abnormal posterior cranial fossa morphology	23545	ATP6V0A2	OMIM:219200
HP:0000932	Abnormal posterior cranial fossa morphology	23545	ATP6V0A2	ORPHA:357074
HP:0000932	Abnormal posterior cranial fossa morphology	27315	PGAP2	OMIM:614207
HP:0000932	Abnormal posterior cranial fossa morphology	157570	ESCO2	ORPHA:2319
HP:0000932	Abnormal posterior cranial fossa morphology	5340	PLG	ORPHA:722
HP:0000932	Abnormal posterior cranial fossa morphology	5340	PLG	OMIM:217090
HP:0000932	Abnormal posterior cranial fossa morphology	1717	DHCR7	OMIM:270400
HP:0000932	Abnormal posterior cranial fossa morphology	84314	TMEM107	ORPHA:564
HP:0000932	Abnormal posterior cranial fossa morphology	26123	TCTN3	ORPHA:564
HP:0000932	Abnormal posterior cranial fossa morphology	79867	TCTN2	ORPHA:564
HP:0000932	Abnormal posterior cranial fossa morphology	80776	B9D2	ORPHA:564
HP:0000932	Abnormal posterior cranial fossa morphology	80776	B9D2	OMIM:614175
HP:0000932	Abnormal posterior cranial fossa morphology	79600	TCTN1	ORPHA:564
HP:0000932	Abnormal posterior cranial fossa morphology	57096	RPGRIP1	ORPHA:564
HP:0000932	Abnormal posterior cranial fossa morphology	80184	CEP290	ORPHA:564
HP:0000932	Abnormal posterior cranial fossa morphology	80184	CEP290	OMIM:611134
HP:0000932	Abnormal posterior cranial fossa morphology	57545	CC2D2A	ORPHA:564
HP:0000932	Abnormal posterior cranial fossa morphology	79583	TMEM231	ORPHA:564
HP:0000932	Abnormal posterior cranial fossa morphology	91147	TMEM67	ORPHA:564
HP:0000932	Abnormal posterior cranial fossa morphology	91147	TMEM67	OMIM:607361
HP:0000932	Abnormal posterior cranial fossa morphology	79770	TXNDC15	ORPHA:564
HP:0000932	Abnormal posterior cranial fossa morphology	23322	RPGRIP1L	ORPHA:564
HP:0000932	Abnormal posterior cranial fossa morphology	54903	MKS1	ORPHA:564
HP:0000932	Abnormal posterior cranial fossa morphology	54903	MKS1	OMIM:249000
HP:0000932	Abnormal posterior cranial fossa morphology	27031	NPHP3	OMIM:267010
HP:0000932	Abnormal posterior cranial fossa morphology	27031	NPHP3	OMIM:208540
HP:0000932	Abnormal posterior cranial fossa morphology	27031	NPHP3	ORPHA:3032
HP:0000932	Abnormal posterior cranial fossa morphology	23258	DENND5A	OMIM:617281
HP:0000932	Abnormal posterior cranial fossa morphology	171023	ASXL1	ORPHA:97297
HP:0000932	Abnormal posterior cranial fossa morphology	171023	ASXL1	OMIM:605039
HP:0000932	Abnormal posterior cranial fossa morphology	9184	BUB3	ORPHA:1052
HP:0000932	Abnormal posterior cranial fossa morphology	699	BUB1	ORPHA:1052
HP:0000932	Abnormal posterior cranial fossa morphology	9702	CEP57	ORPHA:1052
HP:0000932	Abnormal posterior cranial fossa morphology	9319	TRIP13	ORPHA:1052
HP:0000932	Abnormal posterior cranial fossa morphology	701	BUB1B	ORPHA:1052
HP:0000932	Abnormal posterior cranial fossa morphology	701	BUB1B	OMIM:257300
HP:0000932	Abnormal posterior cranial fossa morphology	84342	COG8	OMIM:611182
HP:0000932	Abnormal posterior cranial fossa morphology	84188	FAR1	ORPHA:438178
HP:0000932	Abnormal posterior cranial fossa morphology	84188	FAR1	OMIM:616154
HP:0000932	Abnormal posterior cranial fossa morphology	2260	FGFR1	OMIM:613001
HP:0000932	Abnormal posterior cranial fossa morphology	124997	WDR81	OMIM:617967
HP:0000932	Abnormal posterior cranial fossa morphology	2683	B4GALT1	OMIM:607091
HP:0000932	Abnormal posterior cranial fossa morphology	2683	B4GALT1	ORPHA:79332
HP:0000932	Abnormal posterior cranial fossa morphology	26005	C2CD3	OMIM:615948
HP:0000932	Abnormal posterior cranial fossa morphology	26005	C2CD3	ORPHA:434179
HP:0000932	Abnormal posterior cranial fossa morphology	26227	PHGDH	OMIM:256520
HP:0000932	Abnormal posterior cranial fossa morphology	10804	GJB6	ORPHA:477
HP:0000932	Abnormal posterior cranial fossa morphology	2706	GJB2	ORPHA:477
HP:0000932	Abnormal posterior cranial fossa morphology	55605	KIF21A	ORPHA:994
HP:0000932	Abnormal posterior cranial fossa morphology	4927	NUP88	ORPHA:994
HP:0000932	Abnormal posterior cranial fossa morphology	7846	TUBA1A	ORPHA:994
HP:0000932	Abnormal posterior cranial fossa morphology	4654	MYOD1	ORPHA:994
HP:0000932	Abnormal posterior cranial fossa morphology	54551	MAGEL2	ORPHA:994
HP:0000932	Abnormal posterior cranial fossa morphology	4593	MUSK	ORPHA:994
HP:0000932	Abnormal posterior cranial fossa morphology	5913	RAPSN	ORPHA:994
HP:0000932	Abnormal posterior cranial fossa morphology	6572	SLC18A3	ORPHA:994
HP:0000932	Abnormal posterior cranial fossa morphology	285489	DOK7	ORPHA:994
HP:0000932	Abnormal posterior cranial fossa morphology	23126	POGZ	OMIM:616364
HP:0000932	Abnormal posterior cranial fossa morphology	7737	RNF113A	OMIM:300953
HP:0000932	Abnormal posterior cranial fossa morphology	56006	SMG9	OMIM:616920
HP:0000932	Abnormal posterior cranial fossa morphology	998	CDC42	ORPHA:487796
HP:0000932	Abnormal posterior cranial fossa morphology	51524	TMEM138	OMIM:614465
HP:0000932	Abnormal posterior cranial fossa morphology	8239	USP9X	ORPHA:480880
HP:0000932	Abnormal posterior cranial fossa morphology	8239	USP9X	OMIM:300968
HP:0000932	Abnormal posterior cranial fossa morphology	11128	POLR3A	OMIM:264090
HP:0000932	Abnormal posterior cranial fossa morphology	4534	MTM1	OMIM:310400
HP:0000932	Abnormal posterior cranial fossa morphology	526	ATP6V1B2	ORPHA:79500
HP:0000932	Abnormal posterior cranial fossa morphology	54880	BCOR	OMIM:300166
HP:0000932	Abnormal posterior cranial fossa morphology	203068	TUBB	OMIM:156610
HP:0000932	Abnormal posterior cranial fossa morphology	55640	FLVCR2	OMIM:225790
HP:0000932	Abnormal posterior cranial fossa morphology	28952	CCDC22	OMIM:300963
HP:0000932	Abnormal posterior cranial fossa morphology	28952	CCDC22	ORPHA:7
HP:0000932	Abnormal posterior cranial fossa morphology	1654	DDX3X	ORPHA:3338
HP:0000932	Abnormal posterior cranial fossa morphology	80210	ARMC9	OMIM:617622
HP:0000932	Abnormal posterior cranial fossa morphology	5500	PPP1CB	OMIM:617506
HP:0000932	Abnormal posterior cranial fossa morphology	54676	GTPBP2	OMIM:617988
HP:0000932	Abnormal posterior cranial fossa morphology	5373	PMM2	ORPHA:79318
HP:0000932	Abnormal posterior cranial fossa morphology	63895	PIEZO2	OMIM:248700
HP:0000932	Abnormal posterior cranial fossa morphology	2239	GPC4	ORPHA:373
HP:0000932	Abnormal posterior cranial fossa morphology	2719	GPC3	ORPHA:373
HP:0000932	Abnormal posterior cranial fossa morphology	132884	EVC2	OMIM:225500
HP:0000932	Abnormal posterior cranial fossa morphology	2121	EVC	OMIM:225500
HP:0000932	Abnormal posterior cranial fossa morphology	153241	CEP120	OMIM:616300
HP:0000932	Abnormal posterior cranial fossa morphology	523	ATP6V1A	ORPHA:357074
HP:0000932	Abnormal posterior cranial fossa morphology	529	ATP6V1E1	ORPHA:357074
HP:0000932	Abnormal posterior cranial fossa morphology	3798	KIF5A	OMIM:617235
HP:0000932	Abnormal posterior cranial fossa morphology	1028	CDKN1C	OMIM:130650
HP:0000932	Abnormal posterior cranial fossa morphology	3481	IGF2	OMIM:130650
HP:0000932	Abnormal posterior cranial fossa morphology	3784	KCNQ1	OMIM:130650
HP:0000932	Abnormal posterior cranial fossa morphology	10984	KCNQ1OT1	OMIM:130650
HP:0000932	Abnormal posterior cranial fossa morphology	738	VPS51	OMIM:618606
HP:0000932	Abnormal posterior cranial fossa morphology	1376	CPT2	ORPHA:228305
HP:0000932	Abnormal posterior cranial fossa morphology	10195	ALG3	ORPHA:79321
HP:0000932	Abnormal posterior cranial fossa morphology	8481	OFD1	ORPHA:2750
HP:0000932	Abnormal posterior cranial fossa morphology	219844	HYLS1	OMIM:236680
HP:0000932	Abnormal posterior cranial fossa morphology	57020	VPS35L	ORPHA:7
HP:0000932	Abnormal posterior cranial fossa morphology	4281	MID1	ORPHA:2745
HP:0000932	Abnormal posterior cranial fossa morphology	8905	AP1S2	OMIM:304340
HP:0000932	Abnormal posterior cranial fossa morphology	11340	EXOSC8	OMIM:616081
HP:0000932	Abnormal posterior cranial fossa morphology	3572	IL6ST	OMIM:619751
HP:0000932	Abnormal posterior cranial fossa morphology	26235	FBXL4	OMIM:615471
HP:0000932	Abnormal posterior cranial fossa morphology	65250	CPLANE1	OMIM:277170
HP:0000932	Abnormal posterior cranial fossa morphology	348180	CTU2	OMIM:618142
HP:0000932	Abnormal posterior cranial fossa morphology	23241	PACS2	OMIM:618067
HP:0000932	Abnormal posterior cranial fossa morphology	27247	NFU1	OMIM:620938
HP:0000932	Abnormal posterior cranial fossa morphology	1859	DYRK1A	OMIM:614104
HP:0000932	Abnormal posterior cranial fossa morphology	22931	RAB18	OMIM:614222
HP:0000932	Abnormal posterior cranial fossa morphology	1317	SLC31A1	OMIM:620306
HP:0000932	Abnormal posterior cranial fossa morphology	2972	BRF1	OMIM:616202
HP:0000932	Abnormal posterior cranial fossa morphology	2972	BRF1	ORPHA:444072
HP:0000932	Abnormal posterior cranial fossa morphology	4983	OPHN1	ORPHA:137831
HP:0000932	Abnormal posterior cranial fossa morphology	4983	OPHN1	OMIM:300486
HP:0000932	Abnormal posterior cranial fossa morphology	253738	EBF3	ORPHA:96148
HP:0000932	Abnormal posterior cranial fossa morphology	64324	NSD1	ORPHA:821
HP:0000932	Abnormal posterior cranial fossa morphology	64324	NSD1	OMIM:117550
HP:0000932	Abnormal posterior cranial fossa morphology	10297	APC2	ORPHA:821
HP:0000932	Abnormal posterior cranial fossa morphology	26576	SRPK3	OMIM:301134
HP:0000932	Abnormal posterior cranial fossa morphology	51611	DPH5	OMIM:620070
HP:0000932	Abnormal posterior cranial fossa morphology	128869	PIGU	OMIM:618590
HP:0000932	Abnormal posterior cranial fossa morphology	285590	SH3PXD2B	OMIM:249420
HP:0000932	Abnormal posterior cranial fossa morphology	10300	KATNB1	OMIM:616212
HP:0000932	Abnormal posterior cranial fossa morphology	2317	FLNB	ORPHA:1190
HP:0000932	Abnormal posterior cranial fossa morphology	4849	CNOT3	OMIM:618672
HP:0000932	Abnormal posterior cranial fossa morphology	7443	VRK1	OMIM:607596
HP:0000932	Abnormal posterior cranial fossa morphology	10978	CLP1	OMIM:615803
HP:0000932	Abnormal posterior cranial fossa morphology	9382	COG1	ORPHA:263508
HP:0000932	Abnormal posterior cranial fossa morphology	80267	EDEM3	OMIM:619493
HP:0000932	Abnormal posterior cranial fossa morphology	4718	NDUFC2	OMIM:619170
HP:0000932	Abnormal posterior cranial fossa morphology	5879	RAC1	OMIM:617751
HP:0000932	Abnormal posterior cranial fossa morphology	5879	RAC1	ORPHA:500159
HP:0000932	Abnormal posterior cranial fossa morphology	4125	MAN2B1	OMIM:248500
HP:0000932	Abnormal posterior cranial fossa morphology	267010	RNU12	OMIM:620208
HP:0000932	Abnormal posterior cranial fossa morphology	8815	BANF1	OMIM:614008
HP:0000932	Abnormal posterior cranial fossa morphology	23219	FBXO28	OMIM:619777
HP:0000932	Abnormal posterior cranial fossa morphology	93627	TBCK	OMIM:616900
HP:0000932	Abnormal posterior cranial fossa morphology	51684	SUFU	OMIM:617757
HP:0000932	Abnormal posterior cranial fossa morphology	284086	NEK8	OMIM:615415
HP:0000932	Abnormal posterior cranial fossa morphology	5430	POLR2A	OMIM:618603
HP:0000932	Abnormal posterior cranial fossa morphology	1000	CDH2	OMIM:618929
HP:0000932	Abnormal posterior cranial fossa morphology	501	ALDH7A1	ORPHA:3006
HP:0000932	Abnormal posterior cranial fossa morphology	11212	PLPBP	ORPHA:3006
HP:0000932	Abnormal posterior cranial fossa morphology	5832	ALDH18A1	ORPHA:447753
HP:0000932	Abnormal posterior cranial fossa morphology	37	ACADVL	ORPHA:26793
HP:0000932	Abnormal posterior cranial fossa morphology	2296	FOXC1	OMIM:601631
HP:0000932	Abnormal posterior cranial fossa morphology	25970	SH2B1	ORPHA:261197
HP:0000932	Abnormal posterior cranial fossa morphology	5307	PITX1	OMIM:119800
HP:0000932	Abnormal posterior cranial fossa morphology	8884	SLC5A6	OMIM:618973
HP:0000932	Abnormal posterior cranial fossa morphology	23203	PMPCA	ORPHA:1170
HP:0000932	Abnormal posterior cranial fossa morphology	51300	TIMMDC1	OMIM:618251
HP:0000932	Abnormal posterior cranial fossa morphology	7543	ZFX	OMIM:301118
HP:0000932	Abnormal posterior cranial fossa morphology	57716	PRX	OMIM:614895
HP:0000932	Abnormal posterior cranial fossa morphology	8550	MAPKAPK5	OMIM:619869
HP:0000932	Abnormal posterior cranial fossa morphology	55361	PI4K2A	OMIM:620732
HP:0000932	Abnormal posterior cranial fossa morphology	1974	EIF4A2	OMIM:620455
HP:0000932	Abnormal posterior cranial fossa morphology	26834	RNU4-2	OMIM:620851
HP:0000932	Abnormal posterior cranial fossa morphology	7280	TUBB2A	OMIM:615763
HP:0000932	Abnormal posterior cranial fossa morphology	55777	MBD5	OMIM:156200
HP:0000932	Abnormal posterior cranial fossa morphology	157922	CAMSAP1	OMIM:620316
HP:0000932	Abnormal posterior cranial fossa morphology	10060	ABCC9	OMIM:239850
HP:0000932	Abnormal posterior cranial fossa morphology	22943	DKK1	ORPHA:268882
HP:0000932	Abnormal posterior cranial fossa morphology	4853	NOTCH2	OMIM:102500
HP:0000932	Abnormal posterior cranial fossa morphology	26137	ZBTB20	OMIM:259050
HP:0000932	Abnormal posterior cranial fossa morphology	1277	COL1A1	OMIM:259420
HP:0000932	Abnormal posterior cranial fossa morphology	1278	COL1A2	OMIM:259420
HP:0000932	Abnormal posterior cranial fossa morphology	9897	WASHC5	OMIM:220210
HP:0000932	Abnormal posterior cranial fossa morphology	2073	ERCC5	OMIM:616570
HP:0000932	Abnormal posterior cranial fossa morphology	30813	VSX1	OMIM:614195
HP:0000932	Abnormal posterior cranial fossa morphology	23007	PLCH1	OMIM:619895
HP:0000932	Abnormal posterior cranial fossa morphology	392255	GDF6	OMIM:118100
HP:0000932	Abnormal posterior cranial fossa morphology	5159	PDGFRB	OMIM:601812
HP:0000932	Abnormal posterior cranial fossa morphology	18	ABAT	OMIM:613163
HP:0000932	Abnormal posterior cranial fossa morphology	727676	SNORD118	ORPHA:542310
HP:0000932	Abnormal posterior cranial fossa morphology	79848	CSPP1	OMIM:615636
HP:0000932	Abnormal posterior cranial fossa morphology	1801	DPH1	ORPHA:459061
HP:0000932	Abnormal posterior cranial fossa morphology	1802	DPH2	ORPHA:459061
HP:0000932	Abnormal posterior cranial fossa morphology	29954	POMT2	OMIM:236670
HP:0000932	Abnormal posterior cranial fossa morphology	79147	FKRP	OMIM:236670
HP:0000932	Abnormal posterior cranial fossa morphology	2218	FKTN	OMIM:236670
HP:0000932	Abnormal posterior cranial fossa morphology	10585	POMT1	OMIM:236670
HP:0000932	Abnormal posterior cranial fossa morphology	9215	LARGE1	OMIM:236670
HP:0000932	Abnormal posterior cranial fossa morphology	2263	FGFR2	OMIM:101200
HP:0000932	Abnormal posterior cranial fossa morphology	2316	FLNA	OMIM:304120
HP:0000932	Abnormal posterior cranial fossa morphology	57688	ZSWIM6	OMIM:603671
HP:0000932	Abnormal posterior cranial fossa morphology	126792	B3GALT6	ORPHA:536467
HP:0000932	Abnormal posterior cranial fossa morphology	55719	SLF2	OMIM:620184
HP:0000932	Abnormal posterior cranial fossa morphology	4617	MYF5	OMIM:618155
HP:0000932	Abnormal posterior cranial fossa morphology	22827	PUF60	ORPHA:508498
HP:0000932	Abnormal posterior cranial fossa morphology	8496	PPFIBP1	OMIM:620024
HP:0000932	Abnormal posterior cranial fossa morphology	4361	MRE11	ORPHA:251347
HP:0000932	Abnormal posterior cranial fossa morphology	129685	TAF8	OMIM:619972
HP:0000932	Abnormal posterior cranial fossa morphology	6658	SOX3	ORPHA:67045
HP:0033434	Nasal septum perforation	340061	STING1	OMIM:615934
HP:0033438	Elevated circulating myoglobin concentration	5698	PSMB9	OMIM:620796
HP:0033442	Elevated circulating glutarylcarnitine concentration	2639	GCDH	OMIM:231670
HP:0007311	Short stepped shuffling gait	4137	MAPT	ORPHA:240094
HP:0007311	Short stepped shuffling gait	4137	MAPT	OMIM:168600
HP:0007311	Short stepped shuffling gait	9829	DNAJC6	ORPHA:391411
HP:0007311	Short stepped shuffling gait	5420	PODXL	ORPHA:391411
HP:0007311	Short stepped shuffling gait	8867	SYNJ1	ORPHA:391411
HP:0007311	Short stepped shuffling gait	8867	SYNJ1	OMIM:615530
HP:0007311	Short stepped shuffling gait	4287	ATXN3	OMIM:168600
HP:0007311	Short stepped shuffling gait	2629	GBA1	OMIM:168600
HP:0007311	Short stepped shuffling gait	126	ADH1C	OMIM:168600
HP:0007311	Short stepped shuffling gait	4576	MT-TT	OMIM:168600
HP:0007311	Short stepped shuffling gait	9627	SNCAIP	OMIM:168600
HP:0007311	Short stepped shuffling gait	6908	TBP	OMIM:168600
HP:0007311	Short stepped shuffling gait	4929	NR4A2	OMIM:168600
HP:0007311	Short stepped shuffling gait	6311	ATXN2	OMIM:168600
HP:0007311	Short stepped shuffling gait	6315	ATXN8OS	OMIM:168600
HP:0007311	Short stepped shuffling gait	1639	DCTN1	OMIM:168605
HP:0007311	Short stepped shuffling gait	59341	TRPV4	ORPHA:86820
HP:0007311	Short stepped shuffling gait	1280	COL2A1	ORPHA:86820
HP:0007311	Short stepped shuffling gait	5575	PRKAR1B	ORPHA:412066
HP:0007313	Cerebral degeneration	2720	GLB1	OMIM:230500
HP:0007313	Cerebral degeneration	80025	PANK2	OMIM:234200
HP:0002282	Gray matter heterotopia	2261	FGFR3	OMIM:187600
HP:0002282	Gray matter heterotopia	2261	FGFR3	ORPHA:1860
HP:0002282	Gray matter heterotopia	3912	LAMB1	OMIM:615191
HP:0002282	Gray matter heterotopia	3912	LAMB1	ORPHA:352682
HP:0002282	Gray matter heterotopia	29899	GPSM2	OMIM:604213
HP:0002282	Gray matter heterotopia	23013	SPEN	OMIM:619312
HP:0002282	Gray matter heterotopia	100151683	RNU4ATAC	OMIM:210710
HP:0002282	Gray matter heterotopia	29957	SLC25A24	OMIM:612289
HP:0002282	Gray matter heterotopia	57282	SLC4A10	OMIM:620746
HP:0002282	Gray matter heterotopia	4659	PPP1R12A	OMIM:618820
HP:0002282	Gray matter heterotopia	8496	PPFIBP1	OMIM:620024
HP:0002282	Gray matter heterotopia	207	AKT1	ORPHA:744
HP:0002282	Gray matter heterotopia	3190	HNRNPK	ORPHA:453504
HP:0002282	Gray matter heterotopia	3190	HNRNPK	ORPHA:352665
HP:0002282	Gray matter heterotopia	29925	GMPPB	ORPHA:370959
HP:0002282	Gray matter heterotopia	79147	FKRP	ORPHA:370959
HP:0002282	Gray matter heterotopia	79147	FKRP	ORPHA:370980
HP:0002282	Gray matter heterotopia	29954	POMT2	ORPHA:370959
HP:0002282	Gray matter heterotopia	84197	POMK	ORPHA:370959
HP:0002282	Gray matter heterotopia	55624	POMGNT1	ORPHA:370959
HP:0002282	Gray matter heterotopia	10585	POMT1	ORPHA:370959
HP:0002282	Gray matter heterotopia	10585	POMT1	ORPHA:370980
HP:0002282	Gray matter heterotopia	2316	FLNA	OMIM:300049
HP:0002282	Gray matter heterotopia	440138	ALG11	ORPHA:280071
HP:0002282	Gray matter heterotopia	253959	RALGAPA1	OMIM:618797
HP:0002282	Gray matter heterotopia	11041	B4GAT1	OMIM:615287
HP:0002282	Gray matter heterotopia	84162	BLTP1	OMIM:617822
HP:0002282	Gray matter heterotopia	80210	ARMC9	OMIM:617622
HP:0002282	Gray matter heterotopia	284217	LAMA1	OMIM:615960
HP:0002282	Gray matter heterotopia	8481	OFD1	OMIM:311200
HP:0002282	Gray matter heterotopia	79633	FAT4	ORPHA:314679
HP:0002282	Gray matter heterotopia	79633	FAT4	OMIM:615546
HP:0002282	Gray matter heterotopia	8642	DCHS1	ORPHA:314679
HP:0002282	Gray matter heterotopia	8642	DCHS1	OMIM:601390
HP:0002282	Gray matter heterotopia	5048	PAFAH1B1	OMIM:607432
HP:0002282	Gray matter heterotopia	9968	MED12	OMIM:305450
HP:0002282	Gray matter heterotopia	5290	PIK3CA	ORPHA:99802
HP:0002282	Gray matter heterotopia	2475	MTOR	ORPHA:99802
HP:0002282	Gray matter heterotopia	10000	AKT3	ORPHA:99802
HP:0002282	Gray matter heterotopia	55780	ERMARD	ORPHA:75857
HP:0002282	Gray matter heterotopia	7846	TUBA1A	OMIM:611603
HP:0002282	Gray matter heterotopia	60	ACTB	OMIM:620475
HP:0002282	Gray matter heterotopia	57688	ZSWIM6	OMIM:603671
HP:0002282	Gray matter heterotopia	5189	PEX1	OMIM:214100
HP:0002282	Gray matter heterotopia	4131	MAP1B	OMIM:618918
HP:0002282	Gray matter heterotopia	284403	WDR62	OMIM:604317
HP:0002282	Gray matter heterotopia	284403	WDR62	ORPHA:2512
HP:0002282	Gray matter heterotopia	57724	EPG5	OMIM:242840
HP:0002282	Gray matter heterotopia	57724	EPG5	ORPHA:1493
HP:0002282	Gray matter heterotopia	23007	PLCH1	OMIM:619895
HP:0002282	Gray matter heterotopia	4123	MAN2C1	OMIM:619775
HP:0002282	Gray matter heterotopia	347733	TUBB2B	ORPHA:300573
HP:0002282	Gray matter heterotopia	92255	LMBRD2	OMIM:619694
HP:0002282	Gray matter heterotopia	11274	USP18	OMIM:617397
HP:0002282	Gray matter heterotopia	729920	CRPPA	OMIM:614643
HP:0002282	Gray matter heterotopia	729920	CRPPA	ORPHA:370980
HP:0002282	Gray matter heterotopia	2678	GGT1	OMIM:231950
HP:0002282	Gray matter heterotopia	3796	KIF2A	OMIM:615411
HP:0002282	Gray matter heterotopia	8777	MPDZ	OMIM:615219
HP:0002282	Gray matter heterotopia	284058	KANSL1	OMIM:610443
HP:0002282	Gray matter heterotopia	5195	PEX14	OMIM:614887
HP:0002282	Gray matter heterotopia	219844	HYLS1	OMIM:236680
HP:0002282	Gray matter heterotopia	4292	MLH1	OMIM:276300
HP:0002282	Gray matter heterotopia	9276	COPB2	ORPHA:2512
HP:0002282	Gray matter heterotopia	11113	CIT	ORPHA:2512
HP:0002282	Gray matter heterotopia	9928	KIF14	ORPHA:2512
HP:0002282	Gray matter heterotopia	22995	CEP152	ORPHA:2512
HP:0002282	Gray matter heterotopia	55262	TRAPPC14	ORPHA:2512
HP:0002282	Gray matter heterotopia	163786	SASS6	ORPHA:2512
HP:0002282	Gray matter heterotopia	29920	PYCR2	ORPHA:2512
HP:0002282	Gray matter heterotopia	84879	MFSD2A	ORPHA:2512
HP:0002282	Gray matter heterotopia	4176	MCM7	ORPHA:2512
HP:0002282	Gray matter heterotopia	80254	CEP63	ORPHA:2512
HP:0002282	Gray matter heterotopia	29081	METTL5	ORPHA:2512
HP:0002282	Gray matter heterotopia	79023	NUP37	ORPHA:2512
HP:0002282	Gray matter heterotopia	23310	NCAPD3	ORPHA:2512
HP:0002282	Gray matter heterotopia	6301	SARS1	ORPHA:2512
HP:0002282	Gray matter heterotopia	55755	CDK5RAP2	ORPHA:2512
HP:0002282	Gray matter heterotopia	79648	MCPH1	ORPHA:2512
HP:0002282	Gray matter heterotopia	6491	STIL	ORPHA:2512
HP:0002282	Gray matter heterotopia	23141	ANKLE2	ORPHA:2512
HP:0002282	Gray matter heterotopia	259266	ASPM	ORPHA:2512
HP:0002282	Gray matter heterotopia	7109	TRAPPC10	ORPHA:2512
HP:0002282	Gray matter heterotopia	7453	WARS1	ORPHA:2512
HP:0002282	Gray matter heterotopia	1911	PHC1	ORPHA:2512
HP:0002282	Gray matter heterotopia	1062	CENPE	ORPHA:2512
HP:0002282	Gray matter heterotopia	6884	TAF13	ORPHA:2512
HP:0002282	Gray matter heterotopia	9662	CEP135	ORPHA:2512
HP:0002282	Gray matter heterotopia	57082	KNL1	ORPHA:2512
HP:0002282	Gray matter heterotopia	1021	CDK6	ORPHA:2512
HP:0002282	Gray matter heterotopia	286204	CRB2	OMIM:219730
HP:0002282	Gray matter heterotopia	1641	DCX	OMIM:300067
HP:0002282	Gray matter heterotopia	171023	ASXL1	OMIM:605039
HP:0002282	Gray matter heterotopia	2009	EML1	OMIM:600348
HP:0002282	Gray matter heterotopia	23327	NEDD4L	OMIM:617201
HP:0002282	Gray matter heterotopia	84314	TMEM107	OMIM:617563
HP:0002282	Gray matter heterotopia	5395	PMS2	OMIM:619101
HP:0002282	Gray matter heterotopia	120	ADD3	OMIM:617008
HP:0002282	Gray matter heterotopia	5908	RAP1B	OMIM:620654
HP:0002282	Gray matter heterotopia	2218	FKTN	ORPHA:370980
HP:0002282	Gray matter heterotopia	26834	RNU4-2	OMIM:620851
HP:0002282	Gray matter heterotopia	375	ARF1	ORPHA:98892
HP:0002282	Gray matter heterotopia	160418	TMTC3	ORPHA:98892
HP:0002282	Gray matter heterotopia	10564	ARFGEF2	ORPHA:98892
HP:0002282	Gray matter heterotopia	10564	ARFGEF2	OMIM:608097
HP:0002282	Gray matter heterotopia	11253	MAN1B1	ORPHA:397941
HP:0002282	Gray matter heterotopia	26005	C2CD3	ORPHA:434179
HP:0002282	Gray matter heterotopia	26005	C2CD3	OMIM:615948
HP:0002282	Gray matter heterotopia	23522	KAT6B	OMIM:606170
HP:0002282	Gray matter heterotopia	4897	NRCAM	OMIM:619833
HP:0002282	Gray matter heterotopia	4329	ALDH6A1	OMIM:614105
HP:0002282	Gray matter heterotopia	25914	RTTN	ORPHA:468631
HP:0002282	Gray matter heterotopia	1000	CDH2	OMIM:618929
HP:0002282	Gray matter heterotopia	9839	ZEB2	ORPHA:261537
HP:0002282	Gray matter heterotopia	9839	ZEB2	ORPHA:261552
HP:0002282	Gray matter heterotopia	1717	DHCR7	OMIM:270400
HP:0002282	Gray matter heterotopia	10733	PLK4	OMIM:616171
HP:0002282	Gray matter heterotopia	5162	PDHB	ORPHA:255138
HP:0002282	Gray matter heterotopia	1436	CSF1R	OMIM:618476
HP:0002282	Gray matter heterotopia	10300	KATNB1	OMIM:616212
HP:0002282	Gray matter heterotopia	22983	MAST1	OMIM:618273
HP:0002282	Gray matter heterotopia	29123	ANKRD11	ORPHA:261250
HP:0002282	Gray matter heterotopia	55790	CSGALNACT1	OMIM:618870
HP:0002282	Gray matter heterotopia	2332	FMR1	OMIM:300624
HP:0002282	Gray matter heterotopia	84148	KAT8	OMIM:618974
HP:0002282	Gray matter heterotopia	8449	DHX16	OMIM:618733
HP:0002282	Gray matter heterotopia	57020	VPS35L	OMIM:619135
HP:0002282	Gray matter heterotopia	65250	CPLANE1	OMIM:277170
HP:0002282	Gray matter heterotopia	23036	ZNF292	OMIM:619188
HP:0002282	Gray matter heterotopia	55656	INTS8	OMIM:618572
HP:0002282	Gray matter heterotopia	57178	ZMIZ1	OMIM:618659
HP:0002282	Gray matter heterotopia	9692	PRORP	OMIM:619737
HP:0002282	Gray matter heterotopia	10815	CPLX1	ORPHA:352582
HP:0002282	Gray matter heterotopia	57465	TBC1D24	ORPHA:352582
HP:0002282	Gray matter heterotopia	22859	ADGRL1	OMIM:620065
HP:0002282	Gray matter heterotopia	10297	APC2	OMIM:618677
HP:0002282	Gray matter heterotopia	1284	COL4A2	OMIM:614483
HP:0002282	Gray matter heterotopia	7283	TUBG1	OMIM:615412
HP:0002282	Gray matter heterotopia	10844	TUBGCP2	OMIM:618737
HP:0002282	Gray matter heterotopia	203068	TUBB	OMIM:615771
HP:0002282	Gray matter heterotopia	387119	CEP85L	OMIM:618873
HP:0012610	Abnormality of urinary uric acid level	3251	HPRT1	OMIM:300322
HP:0012610	Abnormality of urinary uric acid level	3251	HPRT1	OMIM:300323
HP:0012610	Abnormality of urinary uric acid level	3251	HPRT1	ORPHA:79233
HP:0012610	Abnormality of urinary uric acid level	5631	PRPS1	OMIM:300661
HP:0012610	Abnormality of urinary uric acid level	5631	PRPS1	ORPHA:411543
HP:0012610	Abnormality of urinary uric acid level	5631	PRPS1	ORPHA:411536
HP:0012610	Abnormality of urinary uric acid level	116085	SLC22A12	OMIM:220150
HP:0012610	Abnormality of urinary uric acid level	116085	SLC22A12	ORPHA:94088
HP:0012610	Abnormality of urinary uric acid level	229	ALDOB	OMIM:229600
HP:0012610	Abnormality of urinary uric acid level	10686	CLDN16	OMIM:248250
HP:0012610	Abnormality of urinary uric acid level	56606	SLC2A9	ORPHA:94088
HP:0012610	Abnormality of urinary uric acid level	1962	EHHADH	ORPHA:3337
HP:0012610	Abnormality of urinary uric acid level	2628	GATM	ORPHA:3337
HP:0012610	Abnormality of urinary uric acid level	137682	NDUFAF6	ORPHA:3337
HP:0012610	Abnormality of urinary uric acid level	6569	SLC34A1	ORPHA:3337
HP:0012610	Abnormality of urinary uric acid level	4860	PNP	ORPHA:760
HP:0012610	Abnormality of urinary uric acid level	4860	PNP	OMIM:613179
HP:0012610	Abnormality of urinary uric acid level	4337	MOCS1	OMIM:252150
HP:0012610	Abnormality of urinary uric acid level	4338	MOCS2	OMIM:252160
HP:0012610	Abnormality of urinary uric acid level	7369	UMOD	OMIM:162000
HP:0003149	Hyperuricosuria	3251	HPRT1	OMIM:300322
HP:0003149	Hyperuricosuria	3251	HPRT1	OMIM:300323
HP:0003149	Hyperuricosuria	3251	HPRT1	ORPHA:79233
HP:0003149	Hyperuricosuria	5631	PRPS1	OMIM:300661
HP:0003149	Hyperuricosuria	5631	PRPS1	ORPHA:411543
HP:0003149	Hyperuricosuria	5631	PRPS1	ORPHA:411536
HP:0003149	Hyperuricosuria	116085	SLC22A12	OMIM:220150
HP:0003149	Hyperuricosuria	116085	SLC22A12	ORPHA:94088
HP:0003149	Hyperuricosuria	229	ALDOB	OMIM:229600
HP:0003149	Hyperuricosuria	10686	CLDN16	OMIM:248250
HP:0003149	Hyperuricosuria	56606	SLC2A9	ORPHA:94088
HP:0003149	Hyperuricosuria	1962	EHHADH	ORPHA:3337
HP:0003149	Hyperuricosuria	2628	GATM	ORPHA:3337
HP:0003149	Hyperuricosuria	137682	NDUFAF6	ORPHA:3337
HP:0003149	Hyperuricosuria	6569	SLC34A1	ORPHA:3337
HP:0012612	Abnormal urinary sulfate concentration	4337	MOCS1	OMIM:252150
HP:0012612	Abnormal urinary sulfate concentration	6821	SUOX	OMIM:272300
HP:0012612	Abnormal urinary sulfate concentration	10861	SLC26A1	OMIM:620372
HP:0012613	Increased urinary sulfate	10861	SLC26A1	OMIM:620372
HP:0012614	Abnormal urine cytology	26191	PTPN22	ORPHA:397
HP:0012614	Abnormal urine cytology	26191	PTPN22	ORPHA:536
HP:0012614	Abnormal urine cytology	26191	PTPN22	ORPHA:900
HP:0012614	Abnormal urine cytology	3106	HLA-B	ORPHA:397
HP:0012614	Abnormal urine cytology	3123	HLA-DRB1	ORPHA:397
HP:0012614	Abnormal urine cytology	3123	HLA-DRB1	ORPHA:536
HP:0012614	Abnormal urine cytology	8974	P4HA2	ORPHA:397
HP:0012614	Abnormal urine cytology	1497	CTNS	OMIM:219800
HP:0012614	Abnormal urine cytology	4010	LMX1B	ORPHA:2614
HP:0012614	Abnormal urine cytology	4010	LMX1B	OMIM:161200
HP:0012614	Abnormal urine cytology	55746	NUP133	OMIM:618349
HP:0012614	Abnormal urine cytology	4179	CD46	OMIM:612922
HP:0012614	Abnormal urine cytology	6775	STAT4	ORPHA:93552
HP:0012614	Abnormal urine cytology	6775	STAT4	ORPHA:536
HP:0012614	Abnormal urine cytology	6696	SPP1	ORPHA:93552
HP:0012614	Abnormal urine cytology	6696	SPP1	ORPHA:536
HP:0012614	Abnormal urine cytology	6303	SAT1	ORPHA:93552
HP:0012614	Abnormal urine cytology	3654	IRAK1	ORPHA:93552
HP:0012614	Abnormal urine cytology	3654	IRAK1	ORPHA:536
HP:0012614	Abnormal urine cytology	629	CFB	OMIM:612924
HP:0012614	Abnormal urine cytology	56606	SLC2A9	ORPHA:94088
HP:0012614	Abnormal urine cytology	116085	SLC22A12	ORPHA:94088
HP:0012614	Abnormal urine cytology	3426	CFI	OMIM:612923
HP:0012614	Abnormal urine cytology	1776	DNASE1L3	ORPHA:36412
HP:0012614	Abnormal urine cytology	7056	THBD	OMIM:612926
HP:0012614	Abnormal urine cytology	718	C3	OMIM:612925
HP:0012614	Abnormal urine cytology	3655	ITGA6	ORPHA:79403
HP:0012614	Abnormal urine cytology	3691	ITGB4	ORPHA:79403
HP:0012614	Abnormal urine cytology	6720	SREBF1	OMIM:158310
HP:0012614	Abnormal urine cytology	2158	F9	OMIM:306900
HP:0012614	Abnormal urine cytology	23607	CD2AP	OMIM:607832
HP:0012614	Abnormal urine cytology	9380	GRHPR	OMIM:260000
HP:0012614	Abnormal urine cytology	23395	LARS2	OMIM:617021
HP:0012614	Abnormal urine cytology	3162	HMOX1	OMIM:614034
HP:0012614	Abnormal urine cytology	25959	KANK2	OMIM:617783
HP:0012614	Abnormal urine cytology	10413	YAP1	ORPHA:1473
HP:0012614	Abnormal urine cytology	10413	YAP1	OMIM:120433
HP:0012614	Abnormal urine cytology	10686	CLDN16	OMIM:248250
HP:0012614	Abnormal urine cytology	7248	TSC1	ORPHA:538
HP:0012614	Abnormal urine cytology	7249	TSC2	ORPHA:538
HP:0012614	Abnormal urine cytology	1286	COL4A4	OMIM:141200
HP:0012614	Abnormal urine cytology	1286	COL4A4	OMIM:203780
HP:0012614	Abnormal urine cytology	6523	SLC5A1	ORPHA:35710
HP:0012614	Abnormal urine cytology	4952	OCRL	ORPHA:534
HP:0012614	Abnormal urine cytology	2215	FCGR3B	ORPHA:536
HP:0012614	Abnormal urine cytology	3684	ITGAM	ORPHA:536
HP:0012614	Abnormal urine cytology	3586	IL10	ORPHA:536
HP:0012614	Abnormal urine cytology	221895	JAZF1	ORPHA:536
HP:0012614	Abnormal urine cytology	11277	TREX1	ORPHA:536
HP:0012614	Abnormal urine cytology	11277	TREX1	OMIM:192315
HP:0012614	Abnormal urine cytology	7292	TNFSF4	ORPHA:536
HP:0012614	Abnormal urine cytology	640	BLK	ORPHA:536
HP:0012614	Abnormal urine cytology	720	C4A	ORPHA:536
HP:0012614	Abnormal urine cytology	55024	BANK1	ORPHA:536
HP:0012614	Abnormal urine cytology	3500	IGHG1	ORPHA:536
HP:0012614	Abnormal urine cytology	1493	CTLA4	ORPHA:536
HP:0012614	Abnormal urine cytology	1493	CTLA4	ORPHA:900
HP:0012614	Abnormal urine cytology	1380	CR2	ORPHA:536
HP:0012614	Abnormal urine cytology	5133	PDCD1	ORPHA:536
HP:0012614	Abnormal urine cytology	2113	ETS1	ORPHA:536
HP:0012614	Abnormal urine cytology	2213	FCGR2B	ORPHA:536
HP:0012614	Abnormal urine cytology	10318	TNIP1	ORPHA:536
HP:0012614	Abnormal urine cytology	7332	UBE2L3	ORPHA:536
HP:0012614	Abnormal urine cytology	79932	KIAA0319L	ORPHA:536
HP:0012614	Abnormal urine cytology	4204	MECP2	ORPHA:536
HP:0012614	Abnormal urine cytology	3663	IRF5	ORPHA:536
HP:0012614	Abnormal urine cytology	721	C4B	ORPHA:536
HP:0012614	Abnormal urine cytology	1773	DNASE1	ORPHA:536
HP:0012614	Abnormal urine cytology	51284	TLR7	ORPHA:536
HP:0012614	Abnormal urine cytology	54899	PXK	ORPHA:536
HP:0012614	Abnormal urine cytology	7128	TNFAIP3	ORPHA:536
HP:0012614	Abnormal urine cytology	51726	DNAJB11	ORPHA:730
HP:0012614	Abnormal urine cytology	23193	GANAB	ORPHA:730
HP:0012614	Abnormal urine cytology	5310	PKD1	ORPHA:730
HP:0012614	Abnormal urine cytology	5311	PKD2	ORPHA:730
HP:0012614	Abnormal urine cytology	29880	ALG5	ORPHA:730
HP:0012614	Abnormal urine cytology	9742	IFT140	ORPHA:730
HP:0012614	Abnormal urine cytology	79796	ALG9	ORPHA:730
HP:0012614	Abnormal urine cytology	80114	BICC1	ORPHA:730
HP:0012614	Abnormal urine cytology	3043	HBB	OMIM:603903
HP:0012614	Abnormal urine cytology	353	APRT	OMIM:614723
HP:0012614	Abnormal urine cytology	1801	DPH1	OMIM:616901
HP:0012614	Abnormal urine cytology	55109	AGGF1	ORPHA:90308
HP:0012614	Abnormal urine cytology	5290	PIK3CA	ORPHA:90308
HP:0012614	Abnormal urine cytology	2159	F10	ORPHA:328
HP:0012614	Abnormal urine cytology	7428	VHL	ORPHA:276621
HP:0012614	Abnormal urine cytology	7428	VHL	ORPHA:29072
HP:0012614	Abnormal urine cytology	5979	RET	ORPHA:276621
HP:0012614	Abnormal urine cytology	5979	RET	ORPHA:29072
HP:0012614	Abnormal urine cytology	1788	DNMT3A	ORPHA:276621
HP:0012614	Abnormal urine cytology	2034	EPAS1	ORPHA:276621
HP:0012614	Abnormal urine cytology	6392	SDHD	ORPHA:276621
HP:0012614	Abnormal urine cytology	6392	SDHD	ORPHA:29072
HP:0012614	Abnormal urine cytology	6390	SDHB	ORPHA:276621
HP:0012614	Abnormal urine cytology	6390	SDHB	ORPHA:29072
HP:0012614	Abnormal urine cytology	9103	FCGR2C	ORPHA:3002
HP:0012614	Abnormal urine cytology	2717	GLA	ORPHA:324
HP:0012614	Abnormal urine cytology	2153	F5	ORPHA:326
HP:0012614	Abnormal urine cytology	84818	IL17RC	ORPHA:1334
HP:0012614	Abnormal urine cytology	64581	CLEC7A	ORPHA:1334
HP:0012614	Abnormal urine cytology	23765	IL17RA	ORPHA:1334
HP:0012614	Abnormal urine cytology	10758	TRAF3IP2	ORPHA:1334
HP:0012614	Abnormal urine cytology	112744	IL17F	ORPHA:1334
HP:0012614	Abnormal urine cytology	27031	NPHP3	OMIM:604387
HP:0012614	Abnormal urine cytology	54	ACP5	ORPHA:1855
HP:0012614	Abnormal urine cytology	2243	FGA	OMIM:105200
HP:0012614	Abnormal urine cytology	3251	HPRT1	ORPHA:510
HP:0012614	Abnormal urine cytology	9056	SLC7A7	ORPHA:470
HP:0012614	Abnormal urine cytology	29927	SEC61A1	OMIM:617056
HP:0012614	Abnormal urine cytology	6711	SPTBN1	OMIM:619475
HP:0012614	Abnormal urine cytology	189	AGXT	OMIM:259900
HP:0012614	Abnormal urine cytology	189	AGXT	ORPHA:93598
HP:0012614	Abnormal urine cytology	1743	DLST	ORPHA:29072
HP:0012614	Abnormal urine cytology	4191	MDH2	ORPHA:29072
HP:0012614	Abnormal urine cytology	6389	SDHA	ORPHA:29072
HP:0012614	Abnormal urine cytology	23095	KIF1B	ORPHA:29072
HP:0012614	Abnormal urine cytology	2271	FH	ORPHA:29072
HP:0012614	Abnormal urine cytology	8402	SLC25A11	ORPHA:29072
HP:0012614	Abnormal urine cytology	54949	SDHAF2	ORPHA:29072
HP:0012614	Abnormal urine cytology	55654	TMEM127	ORPHA:29072
HP:0012614	Abnormal urine cytology	4763	NF1	ORPHA:29072
HP:0012614	Abnormal urine cytology	6391	SDHC	ORPHA:29072
HP:0012614	Abnormal urine cytology	4149	MAX	ORPHA:29072
HP:0012614	Abnormal urine cytology	1282	COL4A1	ORPHA:73229
HP:0012614	Abnormal urine cytology	1282	COL4A1	OMIM:611773
HP:0012614	Abnormal urine cytology	3115	HLA-DPB1	ORPHA:900
HP:0012614	Abnormal urine cytology	5657	PRTN3	ORPHA:900
HP:0012614	Abnormal urine cytology	3113	HLA-DPA1	ORPHA:900
HP:0012614	Abnormal urine cytology	5345	SERPINF2	ORPHA:79
HP:0012614	Abnormal urine cytology	3075	CFH	OMIM:609814
HP:0012614	Abnormal urine cytology	3913	LAMB2	OMIM:614199
HP:0012614	Abnormal urine cytology	3998	LMAN1	ORPHA:35909
HP:0012614	Abnormal urine cytology	90411	MCFD2	ORPHA:35909
HP:0012614	Abnormal urine cytology	9688	NUP93	OMIM:616892
HP:0012614	Abnormal urine cytology	6786	STIM1	OMIM:185070
HP:0012614	Abnormal urine cytology	2625	GATA3	OMIM:146255
HP:0012614	Abnormal urine cytology	10253	SPRY2	OMIM:616818
HP:0012614	Abnormal urine cytology	2811	GP1BA	ORPHA:853
HP:0012614	Abnormal urine cytology	2812	GP1BB	ORPHA:853
HP:0012614	Abnormal urine cytology	3674	ITGA2B	ORPHA:853
HP:0012614	Abnormal urine cytology	3673	ITGA2	ORPHA:853
HP:0012614	Abnormal urine cytology	135228	CD109	ORPHA:853
HP:0012614	Abnormal urine cytology	3690	ITGB3	ORPHA:853
HP:0012614	Abnormal urine cytology	7369	UMOD	OMIM:162000
HP:0012614	Abnormal urine cytology	149461	CLDN19	ORPHA:2196
HP:0012614	Abnormal urine cytology	2157	F8	ORPHA:169805
HP:0012614	Abnormal urine cytology	5213	PFKM	OMIM:232800
HP:0012614	Abnormal urine cytology	1285	COL4A3	OMIM:104200
HP:0012614	Abnormal urine cytology	6928	HNF1B	ORPHA:1309
HP:0012614	Abnormal urine cytology	4853	NOTCH2	OMIM:610205
HP:0012614	Abnormal urine cytology	5076	PAX2	OMIM:120330
HP:0012614	Abnormal urine cytology	2542	SLC37A4	OMIM:232240
HP:0012614	Abnormal urine cytology	6774	STAT3	ORPHA:520
HP:0012614	Abnormal urine cytology	5371	PML	ORPHA:520
HP:0012614	Abnormal urine cytology	5914	RARA	ORPHA:520
HP:0012614	Abnormal urine cytology	359948	IRF2BP2	ORPHA:520
HP:0012614	Abnormal urine cytology	81608	FIP1L1	ORPHA:520
HP:0012614	Abnormal urine cytology	4869	NPM1	ORPHA:520
HP:0012614	Abnormal urine cytology	5573	PRKAR1A	ORPHA:520
HP:0012614	Abnormal urine cytology	54880	BCOR	ORPHA:520
HP:0012614	Abnormal urine cytology	64859	NABP1	ORPHA:520
HP:0012614	Abnormal urine cytology	6777	STAT5B	ORPHA:520
HP:0012614	Abnormal urine cytology	4926	NUMA1	ORPHA:520
HP:0012614	Abnormal urine cytology	7704	ZBTB16	ORPHA:520
HP:0012614	Abnormal urine cytology	79718	TBL1XR1	ORPHA:520
HP:0012614	Abnormal urine cytology	2629	GBA1	ORPHA:77261
HP:0012614	Abnormal urine cytology	2629	GBA1	ORPHA:77259
HP:0012614	Abnormal urine cytology	10568	SLC34A2	ORPHA:60025
HP:0012614	Abnormal urine cytology	4643	MYO1E	OMIM:614131
HP:0012614	Abnormal urine cytology	84823	LMNB2	OMIM:608709
HP:0012614	Abnormal urine cytology	7372	UMPS	OMIM:258900
HP:0012614	Abnormal urine cytology	112817	HOGA1	ORPHA:93600
HP:0012614	Abnormal urine cytology	5052	PRDX1	OMIM:277400
HP:0012614	Abnormal urine cytology	25974	MMACHC	OMIM:277400
HP:0012614	Abnormal urine cytology	22909	FAN1	OMIM:614817
HP:0012614	Abnormal urine cytology	950	SCARB2	ORPHA:77259
HP:0012614	Abnormal urine cytology	1288	COL4A6	ORPHA:1018
HP:0012614	Abnormal urine cytology	1287	COL4A5	ORPHA:1018
HP:0012614	Abnormal urine cytology	9663	LPIN2	ORPHA:77297
HP:0012614	Abnormal urine cytology	5087	PBX1	ORPHA:97362
HP:0012614	Abnormal urine cytology	9722	NOS1AP	OMIM:619155
HP:0012614	Abnormal urine cytology	8029	CUBN	OMIM:261100
HP:0012614	Abnormal urine cytology	64423	INF2	OMIM:613237
HP:0012614	Abnormal urine cytology	1184	CLCN5	OMIM:310468
HP:0012614	Abnormal urine cytology	1184	CLCN5	OMIM:308990
HP:0012614	Abnormal urine cytology	1184	CLCN5	OMIM:300009
HP:0012614	Abnormal urine cytology	2335	FN1	ORPHA:84090
HP:0012614	Abnormal urine cytology	2335	FN1	OMIM:601894
HP:0012614	Abnormal urine cytology	2147	F2	ORPHA:325
HP:0012614	Abnormal urine cytology	81494	CFHR5	OMIM:614809
HP:0012614	Abnormal urine cytology	23630	KCNE5	ORPHA:86818
HP:0012614	Abnormal urine cytology	2182	ACSL4	ORPHA:86818
HP:0012614	Abnormal urine cytology	9949	AMMECR1	ORPHA:86818
HP:0012614	Abnormal urine cytology	79902	NUP85	OMIM:618176
HP:0012614	Abnormal urine cytology	50485	SMARCAL1	ORPHA:1830
HP:0012614	Abnormal urine cytology	335	APOA1	OMIM:620657
HP:0012614	Abnormal urine cytology	11093	ADAMTS13	OMIM:274150
HP:0012614	Abnormal urine cytology	5978	REST	ORPHA:654
HP:0012614	Abnormal urine cytology	129563	DIS3L2	ORPHA:654
HP:0012614	Abnormal urine cytology	675	BRCA2	ORPHA:654
HP:0012614	Abnormal urine cytology	9319	TRIP13	ORPHA:654
HP:0012614	Abnormal urine cytology	7490	WT1	ORPHA:654
HP:0012614	Abnormal urine cytology	10155	TRIM28	ORPHA:654
HP:0012614	Abnormal urine cytology	11281	POU6F2	ORPHA:654
HP:0012614	Abnormal urine cytology	2719	GPC3	ORPHA:654
HP:0012614	Abnormal urine cytology	283120	H19	ORPHA:654
HP:0012614	Abnormal urine cytology	2815	GP9	ORPHA:274
HP:0012614	Abnormal urine cytology	1291	COL6A1	OMIM:158810
HP:0012614	Abnormal urine cytology	975	CD81	OMIM:613496
HP:0012618	Urachal cyst	5880	RAC2	OMIM:608203
HP:0012619	Multiple bladder diverticula	8425	LTBP4	OMIM:613177
HP:0012619	Multiple bladder diverticula	4052	LTBP1	ORPHA:90349
HP:0012619	Multiple bladder diverticula	30008	EFEMP2	ORPHA:90349
HP:0012619	Multiple bladder diverticula	10516	FBLN5	ORPHA:90349
HP:0012619	Multiple bladder diverticula	9968	MED12	ORPHA:2728
HP:0002269	Abnormality of neuronal migration	4750	NEK1	OMIM:263520
HP:0002269	Abnormality of neuronal migration	2879	GPX4	ORPHA:93317
HP:0002269	Abnormality of neuronal migration	23417	MLYCD	OMIM:248360
HP:0002269	Abnormality of neuronal migration	11267	SNF8	OMIM:620783
HP:0002269	Abnormality of neuronal migration	80232	WDR26	ORPHA:513456
HP:0002269	Abnormality of neuronal migration	387119	CEP85L	OMIM:618873
HP:0002269	Abnormality of neuronal migration	387119	CEP85L	ORPHA:572013
HP:0002269	Abnormality of neuronal migration	8312	AXIN1	OMIM:620558
HP:0002269	Abnormality of neuronal migration	4784	NFIX	OMIM:602535
HP:0002269	Abnormality of neuronal migration	56915	EXOSC5	OMIM:619576
HP:0002269	Abnormality of neuronal migration	1778	DYNC1H1	OMIM:614563
HP:0002269	Abnormality of neuronal migration	10716	TBR1	OMIM:606053
HP:0002269	Abnormality of neuronal migration	5354	PLP1	ORPHA:280210
HP:0002269	Abnormality of neuronal migration	55697	VAC14	ORPHA:3472
HP:0002269	Abnormality of neuronal migration	545	ATR	OMIM:210600
HP:0002269	Abnormality of neuronal migration	2313	FLI1	ORPHA:2308
HP:0002269	Abnormality of neuronal migration	81689	ISCA1	OMIM:617613
HP:0002269	Abnormality of neuronal migration	9508	ADAMTS3	ORPHA:2136
HP:0002269	Abnormality of neuronal migration	147372	CCBE1	ORPHA:2136
HP:0002269	Abnormality of neuronal migration	147372	CCBE1	OMIM:235510
HP:0002269	Abnormality of neuronal migration	4677	NARS1	OMIM:619091
HP:0002269	Abnormality of neuronal migration	10463	SLC30A9	OMIM:617595
HP:0002269	Abnormality of neuronal migration	55005	RMND1	OMIM:614922
HP:0002269	Abnormality of neuronal migration	79087	ALG12	ORPHA:79324
HP:0002269	Abnormality of neuronal migration	84978	FRMD5	OMIM:620094
HP:0002269	Abnormality of neuronal migration	1496	CTNNA2	OMIM:618174
HP:0002269	Abnormality of neuronal migration	835	CASP2	OMIM:620653
HP:0002269	Abnormality of neuronal migration	6792	CDKL5	ORPHA:1934
HP:0002269	Abnormality of neuronal migration	3736	KCNA1	ORPHA:1934
HP:0002269	Abnormality of neuronal migration	9091	PIGQ	ORPHA:1934
HP:0002269	Abnormality of neuronal migration	140679	SLC32A1	ORPHA:1934
HP:0002269	Abnormality of neuronal migration	2775	GNAO1	ORPHA:1934
HP:0002269	Abnormality of neuronal migration	81603	TRIM8	ORPHA:1934
HP:0002269	Abnormality of neuronal migration	79751	SLC25A22	ORPHA:1934
HP:0002269	Abnormality of neuronal migration	150094	SIK1	ORPHA:1934
HP:0002269	Abnormality of neuronal migration	23312	DMXL2	ORPHA:1934
HP:0002269	Abnormality of neuronal migration	2917	GRM7	ORPHA:1934
HP:0002269	Abnormality of neuronal migration	6326	SCN2A	ORPHA:1934
HP:0002269	Abnormality of neuronal migration	51227	PIGP	ORPHA:1934
HP:0002269	Abnormality of neuronal migration	6324	SCN1B	ORPHA:1934
HP:0002269	Abnormality of neuronal migration	4761	NEUROD2	ORPHA:1934
HP:0002269	Abnormality of neuronal migration	2110	ETFDH	OMIM:231680
HP:0002269	Abnormality of neuronal migration	2108	ETFA	OMIM:231680
HP:0002269	Abnormality of neuronal migration	2109	ETFB	OMIM:231680
HP:0002269	Abnormality of neuronal migration	71	ACTG1	OMIM:614583
HP:0002269	Abnormality of neuronal migration	71	ACTG1	ORPHA:2995
HP:0002269	Abnormality of neuronal migration	348180	CTU2	OMIM:618142
HP:0002269	Abnormality of neuronal migration	55704	CCDC88A	OMIM:617507
HP:0002269	Abnormality of neuronal migration	10297	APC2	OMIM:618677
HP:0002269	Abnormality of neuronal migration	157922	CAMSAP1	OMIM:620316
HP:0002269	Abnormality of neuronal migration	10381	TUBB3	OMIM:614039
HP:0002269	Abnormality of neuronal migration	10381	TUBB3	ORPHA:300570
HP:0002269	Abnormality of neuronal migration	100506658	OCLN	OMIM:251290
HP:0002269	Abnormality of neuronal migration	388015	RTL1	ORPHA:96334
HP:0002269	Abnormality of neuronal migration	8788	DLK1	ORPHA:96334
HP:0002269	Abnormality of neuronal migration	55384	MEG3	ORPHA:96334
HP:0002269	Abnormality of neuronal migration	79068	FTO	OMIM:612938
HP:0002269	Abnormality of neuronal migration	2271	FH	OMIM:606812
HP:0002269	Abnormality of neuronal migration	3090	HIC1	ORPHA:531
HP:0002269	Abnormality of neuronal migration	7531	YWHAE	ORPHA:531
HP:0002269	Abnormality of neuronal migration	170302	ARX	OMIM:300215
HP:0002269	Abnormality of neuronal migration	23545	ATP6V0A2	ORPHA:357074
HP:0002269	Abnormality of neuronal migration	523	ATP6V1A	ORPHA:357074
HP:0002269	Abnormality of neuronal migration	529	ATP6V1E1	ORPHA:357074
HP:0002269	Abnormality of neuronal migration	1020	CDK5	OMIM:616342
HP:0002269	Abnormality of neuronal migration	23499	MACF1	OMIM:618325
HP:0002269	Abnormality of neuronal migration	412	STS	ORPHA:281090
HP:0002269	Abnormality of neuronal migration	22930	RAB3GAP1	ORPHA:2510
HP:0002269	Abnormality of neuronal migration	25782	RAB3GAP2	ORPHA:2510
HP:0002269	Abnormality of neuronal migration	22931	RAB18	ORPHA:2510
HP:0002269	Abnormality of neuronal migration	128637	TBC1D20	ORPHA:2510
HP:0002269	Abnormality of neuronal migration	29968	PSAT1	ORPHA:284417
HP:0002269	Abnormality of neuronal migration	29968	PSAT1	OMIM:616038
HP:0002269	Abnormality of neuronal migration	26276	VPS33B	OMIM:208085
HP:0002269	Abnormality of neuronal migration	7161	TP73	OMIM:619466
HP:0002269	Abnormality of neuronal migration	51075	TMX2	OMIM:618730
HP:0002269	Abnormality of neuronal migration	8738	CRADD	OMIM:614499
HP:0002269	Abnormality of neuronal migration	55367	PIDD1	OMIM:619827
HP:0002269	Abnormality of neuronal migration	63894	VIPAS39	OMIM:613404
HP:0002269	Abnormality of neuronal migration	60386	SLC25A19	ORPHA:99742
HP:0002269	Abnormality of neuronal migration	27183	VPS4A	OMIM:619273
HP:0002269	Abnormality of neuronal migration	9488	PIGB	OMIM:618580
HP:0002269	Abnormality of neuronal migration	8450	CUL4B	OMIM:300354
HP:0002269	Abnormality of neuronal migration	1281	COL3A1	OMIM:618343
HP:0002269	Abnormality of neuronal migration	26235	FBXL4	OMIM:615471
HP:0002269	Abnormality of neuronal migration	10262	SF3B4	OMIM:154400
HP:0002269	Abnormality of neuronal migration	894	CCND2	ORPHA:83473
HP:0002269	Abnormality of neuronal migration	894	CCND2	OMIM:615938
HP:0002269	Abnormality of neuronal migration	5296	PIK3R2	ORPHA:83473
HP:0002269	Abnormality of neuronal migration	5296	PIK3R2	OMIM:603387
HP:0002269	Abnormality of neuronal migration	26128	KIFBP	OMIM:609460
HP:0002269	Abnormality of neuronal migration	55605	KIF21A	ORPHA:45358
HP:0002269	Abnormality of neuronal migration	401	PHOX2A	ORPHA:45358
HP:0002269	Abnormality of neuronal migration	84570	COL25A1	ORPHA:45358
HP:0002269	Abnormality of neuronal migration	51807	TUBA8	ORPHA:250972
HP:0002269	Abnormality of neuronal migration	6091	ROBO1	OMIM:620305
HP:0002269	Abnormality of neuronal migration	79903	NAA60	OMIM:620786
HP:0002269	Abnormality of neuronal migration	6328	SCN3A	OMIM:617938
HP:0002269	Abnormality of neuronal migration	50814	NSDHL	ORPHA:251383
HP:0002269	Abnormality of neuronal migration	50814	NSDHL	OMIM:300831
HP:0002269	Abnormality of neuronal migration	9342	SNAP29	ORPHA:66631
HP:0002269	Abnormality of neuronal migration	9342	SNAP29	OMIM:609528
HP:0002269	Abnormality of neuronal migration	2782	GNB1	ORPHA:488613
HP:0002269	Abnormality of neuronal migration	2782	GNB1	OMIM:616973
HP:0002269	Abnormality of neuronal migration	4867	NPHP1	ORPHA:220497
HP:0002269	Abnormality of neuronal migration	54931	TRMT10C	OMIM:616974
HP:0002269	Abnormality of neuronal migration	79644	SRD5A3	OMIM:612379
HP:0002269	Abnormality of neuronal migration	8320	EOMES	ORPHA:171703
HP:0002269	Abnormality of neuronal migration	5610	EIF2AK2	OMIM:618877
HP:0002269	Abnormality of neuronal migration	26153	KIF26A	OMIM:620156
HP:0002269	Abnormality of neuronal migration	2067	ERCC1	OMIM:610758
HP:0002269	Abnormality of neuronal migration	9361	LONP1	ORPHA:79243
HP:0002269	Abnormality of neuronal migration	5160	PDHA1	ORPHA:79243
HP:0002269	Abnormality of neuronal migration	8131	NPRL3	ORPHA:98820
HP:0002269	Abnormality of neuronal migration	10641	NPRL2	ORPHA:98820
HP:0002269	Abnormality of neuronal migration	9681	DEPDC5	ORPHA:98820
HP:0002269	Abnormality of neuronal migration	9681	DEPDC5	OMIM:620504
HP:0002269	Abnormality of neuronal migration	80311	KLHL15	OMIM:300982
HP:0002269	Abnormality of neuronal migration	9401	RECQL4	OMIM:218600
HP:0002269	Abnormality of neuronal migration	4330	MN1	OMIM:618774
HP:0002269	Abnormality of neuronal migration	64121	RRAGC	OMIM:620609
HP:0002269	Abnormality of neuronal migration	1822	ATN1	OMIM:618494
HP:0002269	Abnormality of neuronal migration	57572	DOCK6	OMIM:614219
HP:0002269	Abnormality of neuronal migration	4204	MECP2	OMIM:300673
HP:0002269	Abnormality of neuronal migration	4204	MECP2	ORPHA:209370
HP:0002269	Abnormality of neuronal migration	23512	SUZ12	OMIM:618786
HP:0002269	Abnormality of neuronal migration	6608	SMO	OMIM:601707
HP:0002269	Abnormality of neuronal migration	57514	ARHGAP31	OMIM:100300
HP:0002269	Abnormality of neuronal migration	526	ATP6V1B2	ORPHA:79500
HP:0002269	Abnormality of neuronal migration	57465	TBC1D24	ORPHA:79500
HP:0002269	Abnormality of neuronal migration	80781	COL18A1	OMIM:267750
HP:0002269	Abnormality of neuronal migration	2222	FDFT1	OMIM:618156
HP:0002269	Abnormality of neuronal migration	3800	KIF5C	OMIM:615282
HP:0002269	Abnormality of neuronal migration	9326	ZNHIT3	OMIM:260565
HP:0002269	Abnormality of neuronal migration	55640	FLVCR2	OMIM:225790
HP:0002269	Abnormality of neuronal migration	9896	FIG4	OMIM:612691
HP:0002269	Abnormality of neuronal migration	79143	MBOAT7	OMIM:617188
HP:0002269	Abnormality of neuronal migration	10319	LAMC3	OMIM:614115
HP:0002269	Abnormality of neuronal migration	7284	TUFM	OMIM:610678
HP:0002269	Abnormality of neuronal migration	11128	POLR3A	ORPHA:3455
HP:0002269	Abnormality of neuronal migration	5879	RAC1	OMIM:617751
HP:0002269	Abnormality of neuronal migration	5879	RAC1	ORPHA:500159
HP:0002269	Abnormality of neuronal migration	6651	SON	ORPHA:500150
HP:0002269	Abnormality of neuronal migration	200205	IBA57	OMIM:615330
HP:0002269	Abnormality of neuronal migration	23219	FBXO28	OMIM:619777
HP:0002269	Abnormality of neuronal migration	3295	HSD17B4	OMIM:261515
HP:0002269	Abnormality of neuronal migration	8295	TRRAP	OMIM:618454
HP:0002269	Abnormality of neuronal migration	8884	SLC5A6	OMIM:618973
HP:0002269	Abnormality of neuronal migration	5728	PTEN	ORPHA:65285
HP:0002269	Abnormality of neuronal migration	57647	DHX37	OMIM:618731
HP:0002269	Abnormality of neuronal migration	2902	GRIN1	OMIM:614254
HP:0002269	Abnormality of neuronal migration	10243	GPHN	OMIM:615501
HP:0002269	Abnormality of neuronal migration	5080	PAX6	OMIM:106210
HP:0002269	Abnormality of neuronal migration	7490	WT1	OMIM:106210
HP:0002269	Abnormality of neuronal migration	90952	ESAM	OMIM:620371
HP:0002269	Abnormality of neuronal migration	168667	BMPER	OMIM:608022
HP:0002269	Abnormality of neuronal migration	9851	KIAA0753	ORPHA:475
HP:0002269	Abnormality of neuronal migration	9851	KIAA0753	ORPHA:2754
HP:0002269	Abnormality of neuronal migration	5147	PDE6D	ORPHA:475
HP:0002269	Abnormality of neuronal migration	5147	PDE6D	ORPHA:2754
HP:0002269	Abnormality of neuronal migration	79600	TCTN1	ORPHA:475
HP:0002269	Abnormality of neuronal migration	79848	CSPP1	ORPHA:475
HP:0002269	Abnormality of neuronal migration	8481	OFD1	ORPHA:475
HP:0002269	Abnormality of neuronal migration	8481	OFD1	ORPHA:2754
HP:0002269	Abnormality of neuronal migration	51684	SUFU	ORPHA:475
HP:0002269	Abnormality of neuronal migration	54806	AHI1	ORPHA:475
HP:0002269	Abnormality of neuronal migration	153241	CEP120	ORPHA:475
HP:0002269	Abnormality of neuronal migration	65250	CPLANE1	ORPHA:475
HP:0002269	Abnormality of neuronal migration	65250	CPLANE1	ORPHA:2754
HP:0002269	Abnormality of neuronal migration	91147	TMEM67	ORPHA:475
HP:0002269	Abnormality of neuronal migration	91147	TMEM67	ORPHA:1454
HP:0002269	Abnormality of neuronal migration	200894	ARL13B	ORPHA:475
HP:0002269	Abnormality of neuronal migration	9731	CEP104	ORPHA:475
HP:0002269	Abnormality of neuronal migration	219844	HYLS1	ORPHA:475
HP:0002269	Abnormality of neuronal migration	23247	KATNIP	ORPHA:475
HP:0002269	Abnormality of neuronal migration	219854	TMEM218	ORPHA:475
HP:0002269	Abnormality of neuronal migration	54903	MKS1	ORPHA:475
HP:0002269	Abnormality of neuronal migration	95681	CEP41	ORPHA:475
HP:0002269	Abnormality of neuronal migration	9786	KIAA0586	ORPHA:475
HP:0002269	Abnormality of neuronal migration	56623	INPP5E	ORPHA:475
HP:0002269	Abnormality of neuronal migration	56623	INPP5E	ORPHA:1454
HP:0002269	Abnormality of neuronal migration	26123	TCTN3	ORPHA:475
HP:0002269	Abnormality of neuronal migration	26123	TCTN3	ORPHA:2754
HP:0002269	Abnormality of neuronal migration	79867	TCTN2	ORPHA:475
HP:0002269	Abnormality of neuronal migration	80776	B9D2	ORPHA:475
HP:0002269	Abnormality of neuronal migration	10464	PIBF1	ORPHA:475
HP:0002269	Abnormality of neuronal migration	80210	ARMC9	ORPHA:475
HP:0002269	Abnormality of neuronal migration	23116	TOGARAM1	ORPHA:475
HP:0002269	Abnormality of neuronal migration	25776	CBY1	ORPHA:475
HP:0002269	Abnormality of neuronal migration	27077	B9D1	ORPHA:475
HP:0002269	Abnormality of neuronal migration	403	ARL3	ORPHA:475
HP:0002269	Abnormality of neuronal migration	80173	IFT74	ORPHA:475
HP:0002269	Abnormality of neuronal migration	65062	TMEM237	ORPHA:475
HP:0002269	Abnormality of neuronal migration	65062	TMEM237	ORPHA:2318
HP:0002269	Abnormality of neuronal migration	284403	WDR62	OMIM:604317
HP:0002269	Abnormality of neuronal migration	1376	CPT2	OMIM:608836
HP:0002269	Abnormality of neuronal migration	1376	CPT2	ORPHA:228308
HP:0002269	Abnormality of neuronal migration	3769	KCNJ13	ORPHA:65
HP:0002269	Abnormality of neuronal migration	343035	RD3	ORPHA:65
HP:0002269	Abnormality of neuronal migration	145226	RDH12	ORPHA:65
HP:0002269	Abnormality of neuronal migration	1406	CRX	ORPHA:65
HP:0002269	Abnormality of neuronal migration	64802	NMNAT1	ORPHA:65
HP:0002269	Abnormality of neuronal migration	57096	RPGRIP1	ORPHA:65
HP:0002269	Abnormality of neuronal migration	80184	CEP290	ORPHA:65
HP:0002269	Abnormality of neuronal migration	80184	CEP290	ORPHA:2318
HP:0002269	Abnormality of neuronal migration	10383	TUBB4B	ORPHA:65
HP:0002269	Abnormality of neuronal migration	9742	IFT140	ORPHA:65
HP:0002269	Abnormality of neuronal migration	85015	USP45	ORPHA:65
HP:0002269	Abnormality of neuronal migration	6121	RPE65	ORPHA:65
HP:0002269	Abnormality of neuronal migration	23418	CRB1	ORPHA:65
HP:0002269	Abnormality of neuronal migration	5130	PCYT1A	ORPHA:65
HP:0002269	Abnormality of neuronal migration	9657	IQCB1	ORPHA:65
HP:0002269	Abnormality of neuronal migration	392255	GDF6	ORPHA:65
HP:0002269	Abnormality of neuronal migration	23746	AIPL1	ORPHA:65
HP:0002269	Abnormality of neuronal migration	3000	GUCY2D	ORPHA:65
HP:0002269	Abnormality of neuronal migration	9227	LRAT	ORPHA:65
HP:0002269	Abnormality of neuronal migration	55812	SPATA7	ORPHA:65
HP:0002269	Abnormality of neuronal migration	7287	TULP1	ORPHA:65
HP:0002269	Abnormality of neuronal migration	167691	LCA5	ORPHA:65
HP:0002269	Abnormality of neuronal migration	3614	IMPDH1	ORPHA:65
HP:0002269	Abnormality of neuronal migration	55670	PEX26	ORPHA:44
HP:0002269	Abnormality of neuronal migration	5824	PEX19	ORPHA:44
HP:0002269	Abnormality of neuronal migration	5828	PEX2	ORPHA:44
HP:0002269	Abnormality of neuronal migration	8504	PEX3	ORPHA:44
HP:0002269	Abnormality of neuronal migration	9409	PEX16	ORPHA:44
HP:0002269	Abnormality of neuronal migration	5190	PEX6	ORPHA:44
HP:0002269	Abnormality of neuronal migration	8799	PEX11B	ORPHA:44
HP:0002269	Abnormality of neuronal migration	5830	PEX5	ORPHA:44
HP:0002269	Abnormality of neuronal migration	5189	PEX1	ORPHA:44
HP:0002269	Abnormality of neuronal migration	5193	PEX12	ORPHA:44
HP:0002269	Abnormality of neuronal migration	5194	PEX13	ORPHA:44
HP:0002269	Abnormality of neuronal migration	5195	PEX14	ORPHA:44
HP:0002269	Abnormality of neuronal migration	5192	PEX10	ORPHA:44
HP:0002269	Abnormality of neuronal migration	6197	RPS6KA3	ORPHA:192
HP:0002269	Abnormality of neuronal migration	57187	THOC2	OMIM:300957
HP:0002269	Abnormality of neuronal migration	5155	PDGFB	ORPHA:1980
HP:0002269	Abnormality of neuronal migration	9213	XPR1	ORPHA:1980
HP:0002269	Abnormality of neuronal migration	5159	PDGFRB	ORPHA:1980
HP:0002269	Abnormality of neuronal migration	57462	MYORG	ORPHA:1980
HP:0002269	Abnormality of neuronal migration	6575	SLC20A2	ORPHA:1980
HP:0002269	Abnormality of neuronal migration	58494	JAM2	ORPHA:1980
HP:0002269	Abnormality of neuronal migration	85378	TUBGCP6	ORPHA:2518
HP:0002269	Abnormality of neuronal migration	27229	TUBGCP4	ORPHA:2518
HP:0002269	Abnormality of neuronal migration	10733	PLK4	ORPHA:2518
HP:0002269	Abnormality of neuronal migration	4683	NBN	ORPHA:647
HP:0002269	Abnormality of neuronal migration	84942	WDR73	OMIM:251300
HP:0002269	Abnormality of neuronal migration	84942	WDR73	ORPHA:2065
HP:0002269	Abnormality of neuronal migration	9289	ADGRG1	ORPHA:98889
HP:0002269	Abnormality of neuronal migration	5297	PI4KA	ORPHA:98889
HP:0002269	Abnormality of neuronal migration	27286	SRPX2	ORPHA:98889
HP:0002269	Abnormality of neuronal migration	2261	FGFR3	ORPHA:93274
HP:0002269	Abnormality of neuronal migration	79583	TMEM231	ORPHA:2318
HP:0002269	Abnormality of neuronal migration	79583	TMEM231	ORPHA:2754
HP:0002269	Abnormality of neuronal migration	51524	TMEM138	ORPHA:2318
HP:0002269	Abnormality of neuronal migration	23090	ZNF423	ORPHA:2318
HP:0002269	Abnormality of neuronal migration	51259	TMEM216	ORPHA:2318
HP:0002269	Abnormality of neuronal migration	51259	TMEM216	ORPHA:2754
HP:0002269	Abnormality of neuronal migration	57545	CC2D2A	ORPHA:2318
HP:0002269	Abnormality of neuronal migration	57545	CC2D2A	ORPHA:1454
HP:0002269	Abnormality of neuronal migration	1859	DYRK1A	ORPHA:464311
HP:0002269	Abnormality of neuronal migration	26047	CNTNAP2	ORPHA:163681
HP:0002269	Abnormality of neuronal migration	28514	DLL1	OMIM:618709
HP:0002269	Abnormality of neuronal migration	10210	TOPORS	ORPHA:2754
HP:0002269	Abnormality of neuronal migration	317662	FAM149B1	ORPHA:2754
HP:0002269	Abnormality of neuronal migration	374654	KIF7	ORPHA:2754
HP:0002269	Abnormality of neuronal migration	9897	WASHC5	ORPHA:7
HP:0002269	Abnormality of neuronal migration	28952	CCDC22	ORPHA:7
HP:0002269	Abnormality of neuronal migration	57020	VPS35L	ORPHA:7
HP:0002269	Abnormality of neuronal migration	56896	DPYSL5	ORPHA:7
HP:0002269	Abnormality of neuronal migration	1718	DHCR24	ORPHA:35107
HP:0002269	Abnormality of neuronal migration	2316	FLNA	OMIM:300049
HP:0002269	Abnormality of neuronal migration	5649	RELN	ORPHA:89844
HP:0002269	Abnormality of neuronal migration	10300	KATNB1	ORPHA:89844
HP:0002269	Abnormality of neuronal migration	54820	NDE1	ORPHA:89844
HP:0002269	Abnormality of neuronal migration	23322	RPGRIP1L	ORPHA:1454
HP:0002269	Abnormality of neuronal migration	79693	YRDC	ORPHA:2065
HP:0002269	Abnormality of neuronal migration	51002	TPRKB	ORPHA:2065
HP:0002269	Abnormality of neuronal migration	55644	OSGEP	ORPHA:2065
HP:0002269	Abnormality of neuronal migration	57122	NUP107	ORPHA:2065
HP:0002269	Abnormality of neuronal migration	10785	WDR4	ORPHA:2065
HP:0002269	Abnormality of neuronal migration	55746	NUP133	ORPHA:2065
HP:0002269	Abnormality of neuronal migration	84520	GON7	ORPHA:2065
HP:0002269	Abnormality of neuronal migration	112858	TP53RK	ORPHA:2065
HP:0002269	Abnormality of neuronal migration	8270	LAGE3	ORPHA:2065
HP:0002269	Abnormality of neuronal migration	55780	ERMARD	ORPHA:75857
HP:0002269	Abnormality of neuronal migration	9215	LARGE1	OMIM:608840
HP:0002269	Abnormality of neuronal migration	9215	LARGE1	ORPHA:899
HP:0002269	Abnormality of neuronal migration	84892	POMGNT2	ORPHA:899
HP:0002269	Abnormality of neuronal migration	148789	B3GALNT2	ORPHA:899
HP:0002269	Abnormality of neuronal migration	79147	FKRP	ORPHA:899
HP:0002269	Abnormality of neuronal migration	29954	POMT2	ORPHA:899
HP:0002269	Abnormality of neuronal migration	1282	COL4A1	ORPHA:899
HP:0002269	Abnormality of neuronal migration	729920	CRPPA	ORPHA:899
HP:0002269	Abnormality of neuronal migration	10329	RXYLT1	ORPHA:899
HP:0002269	Abnormality of neuronal migration	1605	DAG1	ORPHA:899
HP:0002269	Abnormality of neuronal migration	11041	B4GAT1	ORPHA:899
HP:0002269	Abnormality of neuronal migration	10585	POMT1	ORPHA:899
HP:0002269	Abnormality of neuronal migration	84197	POMK	ORPHA:899
HP:0002269	Abnormality of neuronal migration	2218	FKTN	ORPHA:899
HP:0002269	Abnormality of neuronal migration	55624	POMGNT1	ORPHA:899
HP:0002269	Abnormality of neuronal migration	3912	LAMB1	OMIM:615191
HP:0002269	Abnormality of neuronal migration	3912	LAMB1	ORPHA:352682
HP:0002269	Abnormality of neuronal migration	29899	GPSM2	OMIM:604213
HP:0002269	Abnormality of neuronal migration	23013	SPEN	OMIM:619312
HP:0002269	Abnormality of neuronal migration	100151683	RNU4ATAC	OMIM:210710
HP:0002269	Abnormality of neuronal migration	29957	SLC25A24	OMIM:612289
HP:0002269	Abnormality of neuronal migration	57282	SLC4A10	OMIM:620746
HP:0002269	Abnormality of neuronal migration	4659	PPP1R12A	OMIM:618820
HP:0002269	Abnormality of neuronal migration	8496	PPFIBP1	OMIM:620024
HP:0002269	Abnormality of neuronal migration	207	AKT1	ORPHA:744
HP:0002269	Abnormality of neuronal migration	3190	HNRNPK	ORPHA:453504
HP:0002269	Abnormality of neuronal migration	3190	HNRNPK	ORPHA:352665
HP:0002269	Abnormality of neuronal migration	29925	GMPPB	ORPHA:370959
HP:0002269	Abnormality of neuronal migration	440138	ALG11	ORPHA:280071
HP:0002269	Abnormality of neuronal migration	253959	RALGAPA1	OMIM:618797
HP:0002269	Abnormality of neuronal migration	84162	BLTP1	OMIM:617822
HP:0002269	Abnormality of neuronal migration	284217	LAMA1	OMIM:615960
HP:0002269	Abnormality of neuronal migration	79633	FAT4	ORPHA:314679
HP:0002269	Abnormality of neuronal migration	79633	FAT4	OMIM:615546
HP:0002269	Abnormality of neuronal migration	8642	DCHS1	ORPHA:314679
HP:0002269	Abnormality of neuronal migration	8642	DCHS1	OMIM:601390
HP:0002269	Abnormality of neuronal migration	5048	PAFAH1B1	OMIM:607432
HP:0002269	Abnormality of neuronal migration	9968	MED12	OMIM:305450
HP:0002269	Abnormality of neuronal migration	5290	PIK3CA	ORPHA:99802
HP:0002269	Abnormality of neuronal migration	2475	MTOR	ORPHA:99802
HP:0002269	Abnormality of neuronal migration	10000	AKT3	ORPHA:99802
HP:0002269	Abnormality of neuronal migration	7846	TUBA1A	OMIM:611603
HP:0002269	Abnormality of neuronal migration	60	ACTB	OMIM:620475
HP:0002269	Abnormality of neuronal migration	57688	ZSWIM6	OMIM:603671
HP:0002269	Abnormality of neuronal migration	4131	MAP1B	OMIM:618918
HP:0002269	Abnormality of neuronal migration	57724	EPG5	OMIM:242840
HP:0002269	Abnormality of neuronal migration	57724	EPG5	ORPHA:1493
HP:0002269	Abnormality of neuronal migration	23007	PLCH1	OMIM:619895
HP:0002269	Abnormality of neuronal migration	4123	MAN2C1	OMIM:619775
HP:0002269	Abnormality of neuronal migration	347733	TUBB2B	ORPHA:300573
HP:0002269	Abnormality of neuronal migration	92255	LMBRD2	OMIM:619694
HP:0002269	Abnormality of neuronal migration	11274	USP18	OMIM:617397
HP:0002269	Abnormality of neuronal migration	2678	GGT1	OMIM:231950
HP:0002269	Abnormality of neuronal migration	3796	KIF2A	OMIM:615411
HP:0002269	Abnormality of neuronal migration	8777	MPDZ	OMIM:615219
HP:0002269	Abnormality of neuronal migration	284058	KANSL1	OMIM:610443
HP:0002269	Abnormality of neuronal migration	4292	MLH1	OMIM:276300
HP:0002269	Abnormality of neuronal migration	9276	COPB2	ORPHA:2512
HP:0002269	Abnormality of neuronal migration	11113	CIT	ORPHA:2512
HP:0002269	Abnormality of neuronal migration	9928	KIF14	ORPHA:2512
HP:0002269	Abnormality of neuronal migration	22995	CEP152	ORPHA:2512
HP:0002269	Abnormality of neuronal migration	55262	TRAPPC14	ORPHA:2512
HP:0002269	Abnormality of neuronal migration	163786	SASS6	ORPHA:2512
HP:0002269	Abnormality of neuronal migration	29920	PYCR2	ORPHA:2512
HP:0002269	Abnormality of neuronal migration	84879	MFSD2A	ORPHA:2512
HP:0002269	Abnormality of neuronal migration	4176	MCM7	ORPHA:2512
HP:0002269	Abnormality of neuronal migration	80254	CEP63	ORPHA:2512
HP:0002269	Abnormality of neuronal migration	29081	METTL5	ORPHA:2512
HP:0002269	Abnormality of neuronal migration	79023	NUP37	ORPHA:2512
HP:0002269	Abnormality of neuronal migration	23310	NCAPD3	ORPHA:2512
HP:0002269	Abnormality of neuronal migration	6301	SARS1	ORPHA:2512
HP:0002269	Abnormality of neuronal migration	55755	CDK5RAP2	ORPHA:2512
HP:0002269	Abnormality of neuronal migration	79648	MCPH1	ORPHA:2512
HP:0002269	Abnormality of neuronal migration	6491	STIL	ORPHA:2512
HP:0002269	Abnormality of neuronal migration	23141	ANKLE2	ORPHA:2512
HP:0002269	Abnormality of neuronal migration	259266	ASPM	ORPHA:2512
HP:0002269	Abnormality of neuronal migration	7109	TRAPPC10	ORPHA:2512
HP:0002269	Abnormality of neuronal migration	7453	WARS1	ORPHA:2512
HP:0002269	Abnormality of neuronal migration	1911	PHC1	ORPHA:2512
HP:0002269	Abnormality of neuronal migration	1062	CENPE	ORPHA:2512
HP:0002269	Abnormality of neuronal migration	6884	TAF13	ORPHA:2512
HP:0002269	Abnormality of neuronal migration	9662	CEP135	ORPHA:2512
HP:0002269	Abnormality of neuronal migration	57082	KNL1	ORPHA:2512
HP:0002269	Abnormality of neuronal migration	1021	CDK6	ORPHA:2512
HP:0002269	Abnormality of neuronal migration	286204	CRB2	OMIM:219730
HP:0002269	Abnormality of neuronal migration	1641	DCX	OMIM:300067
HP:0002269	Abnormality of neuronal migration	171023	ASXL1	OMIM:605039
HP:0002269	Abnormality of neuronal migration	2009	EML1	OMIM:600348
HP:0002269	Abnormality of neuronal migration	23327	NEDD4L	OMIM:617201
HP:0002269	Abnormality of neuronal migration	84314	TMEM107	OMIM:617563
HP:0002269	Abnormality of neuronal migration	5395	PMS2	OMIM:619101
HP:0002269	Abnormality of neuronal migration	120	ADD3	OMIM:617008
HP:0002269	Abnormality of neuronal migration	5908	RAP1B	OMIM:620654
HP:0002269	Abnormality of neuronal migration	26834	RNU4-2	OMIM:620851
HP:0002269	Abnormality of neuronal migration	8239	USP9X	ORPHA:480880
HP:0002269	Abnormality of neuronal migration	8239	USP9X	OMIM:300968
HP:0002269	Abnormality of neuronal migration	51008	ASCC1	OMIM:616867
HP:0002269	Abnormality of neuronal migration	5457	POU4F1	ORPHA:314647
HP:0002269	Abnormality of neuronal migration	23261	CAMTA1	ORPHA:314647
HP:0002269	Abnormality of neuronal migration	80144	FRAS1	OMIM:219000
HP:0002269	Abnormality of neuronal migration	2736	GLI2	OMIM:610829
HP:0002269	Abnormality of neuronal migration	3908	LAMA2	OMIM:607855
HP:0002269	Abnormality of neuronal migration	57511	COG6	OMIM:614576
HP:0002269	Abnormality of neuronal migration	283989	TSEN54	ORPHA:2524
HP:0002269	Abnormality of neuronal migration	116461	TSEN15	ORPHA:2524
HP:0002269	Abnormality of neuronal migration	79042	TSEN34	ORPHA:2524
HP:0002269	Abnormality of neuronal migration	80746	TSEN2	ORPHA:2524
HP:0002269	Abnormality of neuronal migration	51091	SEPSECS	ORPHA:2524
HP:0002269	Abnormality of neuronal migration	9373	PLAA	ORPHA:521426
HP:0002269	Abnormality of neuronal migration	9373	PLAA	OMIM:617527
HP:0002269	Abnormality of neuronal migration	477	ATP1A2	OMIM:619602
HP:0002269	Abnormality of neuronal migration	11193	WBP4	OMIM:620852
HP:0002269	Abnormality of neuronal migration	26227	PHGDH	ORPHA:79351
HP:0002269	Abnormality of neuronal migration	6311	ATXN2	ORPHA:98756
HP:0002269	Abnormality of neuronal migration	79718	TBL1XR1	ORPHA:487825
HP:0002269	Abnormality of neuronal migration	23229	ARHGEF9	OMIM:300607
HP:0002269	Abnormality of neuronal migration	375	ARF1	ORPHA:98892
HP:0002269	Abnormality of neuronal migration	160418	TMTC3	ORPHA:98892
HP:0002269	Abnormality of neuronal migration	10564	ARFGEF2	ORPHA:98892
HP:0002269	Abnormality of neuronal migration	10564	ARFGEF2	OMIM:608097
HP:0002269	Abnormality of neuronal migration	11253	MAN1B1	ORPHA:397941
HP:0002269	Abnormality of neuronal migration	26005	C2CD3	ORPHA:434179
HP:0002269	Abnormality of neuronal migration	26005	C2CD3	OMIM:615948
HP:0002269	Abnormality of neuronal migration	23522	KAT6B	OMIM:606170
HP:0002269	Abnormality of neuronal migration	4897	NRCAM	OMIM:619833
HP:0002269	Abnormality of neuronal migration	4329	ALDH6A1	OMIM:614105
HP:0002269	Abnormality of neuronal migration	25914	RTTN	ORPHA:468631
HP:0002269	Abnormality of neuronal migration	1000	CDH2	OMIM:618929
HP:0002269	Abnormality of neuronal migration	9839	ZEB2	ORPHA:261537
HP:0002269	Abnormality of neuronal migration	9839	ZEB2	ORPHA:261552
HP:0002269	Abnormality of neuronal migration	1717	DHCR7	OMIM:270400
HP:0002269	Abnormality of neuronal migration	5162	PDHB	ORPHA:255138
HP:0002269	Abnormality of neuronal migration	1436	CSF1R	OMIM:618476
HP:0002269	Abnormality of neuronal migration	22983	MAST1	OMIM:618273
HP:0002269	Abnormality of neuronal migration	29123	ANKRD11	ORPHA:261250
HP:0002269	Abnormality of neuronal migration	55790	CSGALNACT1	OMIM:618870
HP:0002269	Abnormality of neuronal migration	2332	FMR1	OMIM:300624
HP:0002269	Abnormality of neuronal migration	84148	KAT8	OMIM:618974
HP:0002269	Abnormality of neuronal migration	8449	DHX16	OMIM:618733
HP:0002269	Abnormality of neuronal migration	23265	EXOC7	OMIM:619072
HP:0002269	Abnormality of neuronal migration	84065	TMEM222	OMIM:619470
HP:0002269	Abnormality of neuronal migration	10128	LRPPRC	OMIM:220111
HP:0002269	Abnormality of neuronal migration	10617	STAMBP	OMIM:614261
HP:0002269	Abnormality of neuronal migration	23126	POGZ	OMIM:616364
HP:0002269	Abnormality of neuronal migration	2290	FOXG1	OMIM:613454
HP:0002269	Abnormality of neuronal migration	8573	CASK	OMIM:300749
HP:0002269	Abnormality of neuronal migration	54973	INTS11	OMIM:620428
HP:0002269	Abnormality of neuronal migration	55627	SMPD4	OMIM:618622
HP:0002269	Abnormality of neuronal migration	116115	ZNF526	OMIM:619877
HP:0002269	Abnormality of neuronal migration	7443	VRK1	OMIM:620542
HP:0002269	Abnormality of neuronal migration	8405	SPOP	OMIM:618828
HP:0002269	Abnormality of neuronal migration	1457	CSNK2A1	OMIM:617062
HP:0002269	Abnormality of neuronal migration	51124	IER3IP1	OMIM:614231
HP:0002269	Abnormality of neuronal migration	5859	QARS1	OMIM:615760
HP:0002269	Abnormality of neuronal migration	10978	CLP1	ORPHA:411493
HP:0002269	Abnormality of neuronal migration	10978	CLP1	OMIM:615803
HP:0002269	Abnormality of neuronal migration	51741	WWOX	OMIM:616211
HP:0002269	Abnormality of neuronal migration	9442	MED27	OMIM:619286
HP:0002269	Abnormality of neuronal migration	91875	TTC5	OMIM:619244
HP:0002269	Abnormality of neuronal migration	84340	GFM2	OMIM:618397
HP:0002269	Abnormality of neuronal migration	387787	LIPT2	OMIM:617668
HP:0002269	Abnormality of neuronal migration	10293	TRAIP	OMIM:616777
HP:0002269	Abnormality of neuronal migration	7280	TUBB2A	OMIM:615763
HP:0002269	Abnormality of neuronal migration	5591	PRKDC	OMIM:615966
HP:0002269	Abnormality of neuronal migration	51112	TRAPPC12	OMIM:617669
HP:0002269	Abnormality of neuronal migration	4001	LMNB1	OMIM:619179
HP:0002269	Abnormality of neuronal migration	63925	ZNF335	OMIM:615095
HP:0002269	Abnormality of neuronal migration	63925	ZNF335	ORPHA:329228
HP:0002269	Abnormality of neuronal migration	7518	XRCC4	OMIM:616541
HP:0002269	Abnormality of neuronal migration	440	ASNS	OMIM:615574
HP:0002269	Abnormality of neuronal migration	84823	LMNB2	OMIM:616540
HP:0002269	Abnormality of neuronal migration	84823	LMNB2	OMIM:619180
HP:0002269	Abnormality of neuronal migration	6597	SMARCA4	ORPHA:1465
HP:0002269	Abnormality of neuronal migration	6598	SMARCB1	ORPHA:1465
HP:0002269	Abnormality of neuronal migration	6659	SOX4	ORPHA:1465
HP:0002269	Abnormality of neuronal migration	8289	ARID1A	ORPHA:1465
HP:0002269	Abnormality of neuronal migration	5977	DPF2	ORPHA:1465
HP:0002269	Abnormality of neuronal migration	6601	SMARCC2	ORPHA:1465
HP:0002269	Abnormality of neuronal migration	6602	SMARCD1	ORPHA:1465
HP:0002269	Abnormality of neuronal migration	57492	ARID1B	ORPHA:1465
HP:0002269	Abnormality of neuronal migration	196528	ARID2	ORPHA:1465
HP:0002269	Abnormality of neuronal migration	6605	SMARCE1	ORPHA:1465
HP:0002269	Abnormality of neuronal migration	6664	SOX11	ORPHA:1465
HP:0002269	Abnormality of neuronal migration	7436	VLDLR	OMIM:224050
HP:0002269	Abnormality of neuronal migration	267010	RNU12	OMIM:620208
HP:0002269	Abnormality of neuronal migration	85459	CEP295	OMIM:620767
HP:0002269	Abnormality of neuronal migration	2744	GLS	OMIM:618328
HP:0002269	Abnormality of neuronal migration	10015	PDCD6IP	OMIM:620047
HP:0002269	Abnormality of neuronal migration	84081	NSRP1	OMIM:620001
HP:0002269	Abnormality of neuronal migration	1781	DYNC1I2	OMIM:618492
HP:0002269	Abnormality of neuronal migration	51645	PPIL1	OMIM:619301
HP:0002269	Abnormality of neuronal migration	51362	CDC40	OMIM:619302
HP:0002269	Abnormality of neuronal migration	3832	KIF11	OMIM:152950
HP:0002269	Abnormality of neuronal migration	4700	NDUFA6	OMIM:618253
HP:0002269	Abnormality of neuronal migration	11284	PNKP	OMIM:613402
HP:0002269	Abnormality of neuronal migration	51053	GMNN	OMIM:616835
HP:0002269	Abnormality of neuronal migration	29980	DONSON	OMIM:617604
HP:0002269	Abnormality of neuronal migration	29980	DONSON	OMIM:251230
HP:0002269	Abnormality of neuronal migration	27245	AHDC1	OMIM:615829
HP:0002269	Abnormality of neuronal migration	23299	BICD2	OMIM:618291
HP:0002269	Abnormality of neuronal migration	6638	SNRPN	ORPHA:177904
HP:0002269	Abnormality of neuronal migration	6638	SNRPN	ORPHA:177901
HP:0002269	Abnormality of neuronal migration	6638	SNRPN	ORPHA:98754
HP:0002269	Abnormality of neuronal migration	4692	NDN	ORPHA:177904
HP:0002269	Abnormality of neuronal migration	4692	NDN	ORPHA:177901
HP:0002269	Abnormality of neuronal migration	4692	NDN	ORPHA:98754
HP:0002269	Abnormality of neuronal migration	54551	MAGEL2	ORPHA:177904
HP:0002269	Abnormality of neuronal migration	54551	MAGEL2	ORPHA:177901
HP:0002269	Abnormality of neuronal migration	54551	MAGEL2	ORPHA:98754
HP:0002269	Abnormality of neuronal migration	4948	OCA2	ORPHA:177904
HP:0002269	Abnormality of neuronal migration	4948	OCA2	ORPHA:177901
HP:0002269	Abnormality of neuronal migration	4948	OCA2	ORPHA:98754
HP:0002269	Abnormality of neuronal migration	23162	MAPK8IP3	OMIM:618443
HP:0002269	Abnormality of neuronal migration	10367	MICU1	OMIM:615673
HP:0002269	Abnormality of neuronal migration	6472	SHMT2	OMIM:619121
HP:0002269	Abnormality of neuronal migration	2253	FGF8	ORPHA:280195
HP:0002269	Abnormality of neuronal migration	6496	SIX3	ORPHA:280195
HP:0002269	Abnormality of neuronal migration	7050	TGIF1	ORPHA:280195
HP:0002269	Abnormality of neuronal migration	4838	NODAL	ORPHA:280195
HP:0002269	Abnormality of neuronal migration	6469	SHH	ORPHA:280195
HP:0002269	Abnormality of neuronal migration	7546	ZIC2	ORPHA:280195
HP:0002269	Abnormality of neuronal migration	2619	GAS1	ORPHA:280195
HP:0002269	Abnormality of neuronal migration	84976	DISP1	ORPHA:280195
HP:0002269	Abnormality of neuronal migration	8928	FOXH1	ORPHA:280195
HP:0002269	Abnormality of neuronal migration	6997	CRIPTO	ORPHA:280195
HP:0002269	Abnormality of neuronal migration	5727	PTCH1	ORPHA:280195
HP:0002269	Abnormality of neuronal migration	50937	CDON	ORPHA:280195
HP:0002269	Abnormality of neuronal migration	478	ATP1A3	OMIM:619606
HP:0002269	Abnormality of neuronal migration	54187	NANS	OMIM:610442
HP:0002269	Abnormality of neuronal migration	25942	SIN3A	OMIM:613406
HP:0002269	Abnormality of neuronal migration	23036	ZNF292	OMIM:619188
HP:0002269	Abnormality of neuronal migration	55656	INTS8	OMIM:618572
HP:0002269	Abnormality of neuronal migration	57178	ZMIZ1	OMIM:618659
HP:0002269	Abnormality of neuronal migration	9692	PRORP	OMIM:619737
HP:0002269	Abnormality of neuronal migration	10815	CPLX1	ORPHA:352582
HP:0002269	Abnormality of neuronal migration	22859	ADGRL1	OMIM:620065
HP:0002269	Abnormality of neuronal migration	1284	COL4A2	OMIM:614483
HP:0002269	Abnormality of neuronal migration	400569	MED11	OMIM:620327
HP:0002269	Abnormality of neuronal migration	59	ACTA2	OMIM:613834
HP:0002269	Abnormality of neuronal migration	4613	MYCN	OMIM:620748
HP:0002269	Abnormality of neuronal migration	7283	TUBG1	OMIM:615412
HP:0002269	Abnormality of neuronal migration	10844	TUBGCP2	OMIM:618737
HP:0002269	Abnormality of neuronal migration	203068	TUBB	OMIM:615771
HP:0002269	Abnormality of neuronal migration	22858	CILK1	OMIM:612651
HP:0002269	Abnormality of neuronal migration	4953	ODC1	OMIM:619075
HP:0002269	Abnormality of neuronal migration	10524	KAT5	OMIM:619103
HP:0033444	Elevated circulating dodecanoylcarnitine concentration	51241	COX16	OMIM:619355
HP:0033443	Elevated circulating propionylcarnitine concentration	55788	LMBRD1	OMIM:277380
HP:0033443	Elevated circulating propionylcarnitine concentration	5826	ABCD4	OMIM:614857
HP:0033443	Elevated circulating propionylcarnitine concentration	326625	MMAB	OMIM:251110
HP:0033446	Elevated circulating butyrylcarnitine concentration	23474	ETHE1	OMIM:602473
HP:0033447	Elevated circulating isovalerylcarnitine concentration	3712	IVD	ORPHA:33
HP:0033450	Abnormal circulating prealbumin concentration	50943	FOXP3	ORPHA:37042
HP:0033450	Abnormal circulating prealbumin concentration	3119	HLA-DQB1	ORPHA:930
HP:0033450	Abnormal circulating prealbumin concentration	9244	CRLF1	ORPHA:930
HP:0033450	Abnormal circulating prealbumin concentration	3117	HLA-DQA1	ORPHA:930
HP:0033450	Abnormal circulating prealbumin concentration	4842	NOS1	ORPHA:930
HP:0031085	Decreased circulating prealbumin concentration	50943	FOXP3	ORPHA:37042
HP:0031085	Decreased circulating prealbumin concentration	3119	HLA-DQB1	ORPHA:930
HP:0031085	Decreased circulating prealbumin concentration	9244	CRLF1	ORPHA:930
HP:0031085	Decreased circulating prealbumin concentration	3117	HLA-DQA1	ORPHA:930
HP:0031085	Decreased circulating prealbumin concentration	4842	NOS1	ORPHA:930
HP:0007321	Deep white matter hypodensities	25939	SAMHD1	OMIM:612952
HP:0007321	Deep white matter hypodensities	84340	GFM2	ORPHA:565624
HP:0007321	Deep white matter hypodensities	11277	TREX1	OMIM:225750
HP:0001273	Abnormal corpus callosum morphology	87178	PNPT1	ORPHA:319514
HP:0001273	Abnormal corpus callosum morphology	2737	GLI3	ORPHA:672
HP:0001273	Abnormal corpus callosum morphology	9997	SCO2	OMIM:604377
HP:0001273	Abnormal corpus callosum morphology	347733	TUBB2B	ORPHA:467166
HP:0001273	Abnormal corpus callosum morphology	347733	TUBB2B	ORPHA:300573
HP:0001273	Abnormal corpus callosum morphology	7846	TUBA1A	ORPHA:467166
HP:0001273	Abnormal corpus callosum morphology	10381	TUBB3	ORPHA:467166
HP:0001273	Abnormal corpus callosum morphology	9342	SNAP29	OMIM:609528
HP:0001273	Abnormal corpus callosum morphology	9342	SNAP29	ORPHA:66631
HP:0001273	Abnormal corpus callosum morphology	84340	GFM2	ORPHA:565624
HP:0001273	Abnormal corpus callosum morphology	5528	PPP2R5D	ORPHA:457279
HP:0001273	Abnormal corpus callosum morphology	1387	CREBBP	ORPHA:353277
HP:0001273	Abnormal corpus callosum morphology	51259	TMEM216	OMIM:608091
HP:0001273	Abnormal corpus callosum morphology	6326	SCN2A	ORPHA:293181
HP:0001273	Abnormal corpus callosum morphology	57468	SLC12A5	ORPHA:293181
HP:0001273	Abnormal corpus callosum morphology	23236	PLCB1	ORPHA:293181
HP:0001273	Abnormal corpus callosum morphology	3785	KCNQ2	ORPHA:293181
HP:0001273	Abnormal corpus callosum morphology	57582	KCNT1	ORPHA:293181
HP:0001273	Abnormal corpus callosum morphology	5277	PIGA	ORPHA:293181
HP:0001273	Abnormal corpus callosum morphology	6323	SCN1A	ORPHA:293181
HP:0001273	Abnormal corpus callosum morphology	6323	SCN1A	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	79751	SLC25A22	ORPHA:293181
HP:0001273	Abnormal corpus callosum morphology	57465	TBC1D24	ORPHA:293181
HP:0001273	Abnormal corpus callosum morphology	8289	ARID1A	OMIM:614607
HP:0001273	Abnormal corpus callosum morphology	5048	PAFAH1B1	ORPHA:95232
HP:0001273	Abnormal corpus callosum morphology	9839	ZEB2	OMIM:235730
HP:0001273	Abnormal corpus callosum morphology	9839	ZEB2	ORPHA:261537
HP:0001273	Abnormal corpus callosum morphology	9839	ZEB2	ORPHA:261552
HP:0001273	Abnormal corpus callosum morphology	8050	PDHX	ORPHA:255182
HP:0001273	Abnormal corpus callosum morphology	6598	SMARCB1	OMIM:614608
HP:0001273	Abnormal corpus callosum morphology	28514	DLL1	OMIM:618709
HP:0001273	Abnormal corpus callosum morphology	28514	DLL1	ORPHA:280195
HP:0001273	Abnormal corpus callosum morphology	79848	CSPP1	ORPHA:397715
HP:0001273	Abnormal corpus callosum morphology	9786	KIAA0586	ORPHA:397715
HP:0001273	Abnormal corpus callosum morphology	4297	KMT2A	ORPHA:319182
HP:0001273	Abnormal corpus callosum morphology	2232	FDXR	ORPHA:543470
HP:0001273	Abnormal corpus callosum morphology	2253	FGF8	ORPHA:280195
HP:0001273	Abnormal corpus callosum morphology	6496	SIX3	ORPHA:280195
HP:0001273	Abnormal corpus callosum morphology	7050	TGIF1	ORPHA:280195
HP:0001273	Abnormal corpus callosum morphology	4838	NODAL	ORPHA:280195
HP:0001273	Abnormal corpus callosum morphology	6469	SHH	ORPHA:280195
HP:0001273	Abnormal corpus callosum morphology	7546	ZIC2	ORPHA:280195
HP:0001273	Abnormal corpus callosum morphology	6491	STIL	ORPHA:280195
HP:0001273	Abnormal corpus callosum morphology	2619	GAS1	ORPHA:280195
HP:0001273	Abnormal corpus callosum morphology	84976	DISP1	ORPHA:280195
HP:0001273	Abnormal corpus callosum morphology	2736	GLI2	ORPHA:280195
HP:0001273	Abnormal corpus callosum morphology	8928	FOXH1	ORPHA:280195
HP:0001273	Abnormal corpus callosum morphology	6997	CRIPTO	ORPHA:280195
HP:0001273	Abnormal corpus callosum morphology	5727	PTCH1	ORPHA:280195
HP:0001273	Abnormal corpus callosum morphology	50937	CDON	ORPHA:280195
HP:0001273	Abnormal corpus callosum morphology	1654	DDX3X	ORPHA:3338
HP:0001273	Abnormal corpus callosum morphology	27245	AHDC1	ORPHA:412069
HP:0001273	Abnormal corpus callosum morphology	4281	MID1	ORPHA:2745
HP:0001273	Abnormal corpus callosum morphology	23322	RPGRIP1L	OMIM:611560
HP:0001273	Abnormal corpus callosum morphology	2475	MTOR	ORPHA:457485
HP:0001273	Abnormal corpus callosum morphology	55904	KMT2E	OMIM:618512
HP:0001273	Abnormal corpus callosum morphology	2033	EP300	ORPHA:353284
HP:0001273	Abnormal corpus callosum morphology	3737	KCNA2	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	1759	DNM1	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	8120	AP3B2	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	523	ATP6V1A	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	10991	SLC38A3	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	51343	FZR1	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	3747	KCNC2	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	1917	EEF1A2	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	23219	FBXO28	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	2561	GABRB2	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	8831	SYNGAP1	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	2558	GABRA5	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	2906	GRIN2D	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	116150	NUS1	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	1213	CLTC	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	51741	WWOX	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	23334	SZT2	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	348980	HCN1	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	25977	NECAP1	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	23241	PACS2	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	16	AARS1	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	6334	SCN8A	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	9568	GABBR2	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	2555	GABRA2	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	55152	DALRD3	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	26999	CYFIP2	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	4915	NTRK2	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	25973	PARS2	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	23097	CDK19	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	2257	FGF12	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	5530	PPP3CA	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	478	ATP1A3	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	22906	TRAK1	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	2566	GABRG2	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	7532	YWHAG	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	79876	UBA5	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	6328	SCN3A	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	781	CACNA2D1	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	10659	CELF2	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	774	CACNA1B	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	51412	ACTL6B	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	2290	FOXG1	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	6506	SLC1A2	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	8867	SYNJ1	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	477	ATP1A2	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	3745	KCNB1	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	284111	SLC13A5	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	22866	CNKSR2	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	773	CACNA1A	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	79947	DHDDS	ORPHA:442835
HP:0001273	Abnormal corpus callosum morphology	2581	GALC	ORPHA:206448
HP:0001273	Abnormal corpus callosum morphology	5354	PLP1	ORPHA:280229
HP:0001273	Abnormal corpus callosum morphology	8241	RBM10	ORPHA:2886
HP:0001273	Abnormal corpus callosum morphology	267010	RNU12	ORPHA:512260
HP:0001273	Abnormal corpus callosum morphology	3423	IDS	ORPHA:217093
HP:0001273	Abnormal corpus callosum morphology	3476	IGBP1	OMIM:300472
HP:0001273	Abnormal corpus callosum morphology	3476	IGBP1	ORPHA:52055
HP:0001273	Abnormal corpus callosum morphology	11113	CIT	OMIM:617090
HP:0001273	Abnormal corpus callosum morphology	11113	CIT	ORPHA:2512
HP:0001273	Abnormal corpus callosum morphology	7528	YY1	ORPHA:506358
HP:0001273	Abnormal corpus callosum morphology	23141	ANKLE2	OMIM:616681
HP:0001273	Abnormal corpus callosum morphology	23141	ANKLE2	ORPHA:2512
HP:0001273	Abnormal corpus callosum morphology	23019	CNOT1	OMIM:618500
HP:0001273	Abnormal corpus callosum morphology	23019	CNOT1	ORPHA:556955
HP:0001273	Abnormal corpus callosum morphology	1024	CDK8	OMIM:618748
HP:0001273	Abnormal corpus callosum morphology	23556	PIGN	ORPHA:2059
HP:0001273	Abnormal corpus callosum morphology	81857	MED25	OMIM:616449
HP:0001273	Abnormal corpus callosum morphology	81857	MED25	ORPHA:464738
HP:0001273	Abnormal corpus callosum morphology	10992	SF3B2	OMIM:164210
HP:0001273	Abnormal corpus callosum morphology	2731	GLDC	OMIM:605899
HP:0001273	Abnormal corpus callosum morphology	3190	HNRNPK	ORPHA:453504
HP:0001273	Abnormal corpus callosum morphology	3190	HNRNPK	ORPHA:352665
HP:0001273	Abnormal corpus callosum morphology	55112	DYNC2I1	ORPHA:93271
HP:0001273	Abnormal corpus callosum morphology	57560	IFT80	ORPHA:93271
HP:0001273	Abnormal corpus callosum morphology	57539	WDR35	ORPHA:93271
HP:0001273	Abnormal corpus callosum morphology	79659	DYNC2H1	ORPHA:93271
HP:0001273	Abnormal corpus callosum morphology	79659	DYNC2H1	OMIM:613091
HP:0001273	Abnormal corpus callosum morphology	89891	DYNC2I2	ORPHA:93271
HP:0001273	Abnormal corpus callosum morphology	51112	TRAPPC12	ORPHA:500144
HP:0001273	Abnormal corpus callosum morphology	51112	TRAPPC12	OMIM:617669
HP:0001273	Abnormal corpus callosum morphology	2073	ERCC5	OMIM:616570
HP:0001273	Abnormal corpus callosum morphology	116931	MED12L	OMIM:618872
HP:0001273	Abnormal corpus callosum morphology	9578	CDC42BPB	OMIM:619841
HP:0001273	Abnormal corpus callosum morphology	170302	ARX	OMIM:300004
HP:0001273	Abnormal corpus callosum morphology	170302	ARX	OMIM:300215
HP:0001273	Abnormal corpus callosum morphology	170302	ARX	ORPHA:452
HP:0001273	Abnormal corpus callosum morphology	170302	ARX	ORPHA:2508
HP:0001273	Abnormal corpus callosum morphology	1630	DCC	OMIM:617542
HP:0001273	Abnormal corpus callosum morphology	1630	DCC	ORPHA:238722
HP:0001273	Abnormal corpus callosum morphology	1630	DCC	OMIM:157600
HP:0001273	Abnormal corpus callosum morphology	6576	SLC25A1	OMIM:618197
HP:0001273	Abnormal corpus callosum morphology	4867	NPHP1	ORPHA:220497
HP:0001273	Abnormal corpus callosum morphology	22858	CILK1	OMIM:612651
HP:0001273	Abnormal corpus callosum morphology	80055	PGAP1	OMIM:615802
HP:0001273	Abnormal corpus callosum morphology	80055	PGAP1	ORPHA:401820
HP:0001273	Abnormal corpus callosum morphology	84197	POMK	OMIM:615249
HP:0001273	Abnormal corpus callosum morphology	84197	POMK	ORPHA:899
HP:0001273	Abnormal corpus callosum morphology	84197	POMK	ORPHA:370959
HP:0001273	Abnormal corpus callosum morphology	26153	KIF26A	OMIM:620156
HP:0001273	Abnormal corpus callosum morphology	2263	FGFR2	ORPHA:87
HP:0001273	Abnormal corpus callosum morphology	2263	FGFR2	OMIM:123790
HP:0001273	Abnormal corpus callosum morphology	2263	FGFR2	OMIM:101200
HP:0001273	Abnormal corpus callosum morphology	56992	KIF15	ORPHA:261323
HP:0001273	Abnormal corpus callosum morphology	51360	MBTPS2	ORPHA:2273
HP:0001273	Abnormal corpus callosum morphology	284058	KANSL1	ORPHA:363958
HP:0001273	Abnormal corpus callosum morphology	284058	KANSL1	ORPHA:363965
HP:0001273	Abnormal corpus callosum morphology	1020	CDK5	OMIM:616342
HP:0001273	Abnormal corpus callosum morphology	83871	RAB34	OMIM:620718
HP:0001273	Abnormal corpus callosum morphology	5173	PDYN	OMIM:610245
HP:0001273	Abnormal corpus callosum morphology	55681	SCYL2	OMIM:618766
HP:0001273	Abnormal corpus callosum morphology	2018	EMX2	OMIM:269160
HP:0001273	Abnormal corpus callosum morphology	546	ATRX	ORPHA:847
HP:0001273	Abnormal corpus callosum morphology	7080	NKX2-1	ORPHA:209905
HP:0001273	Abnormal corpus callosum morphology	6597	SMARCA4	OMIM:614609
HP:0001273	Abnormal corpus callosum morphology	6597	SMARCA4	ORPHA:1465
HP:0001273	Abnormal corpus callosum morphology	9401	RECQL4	OMIM:218600
HP:0001273	Abnormal corpus callosum morphology	4524	MTHFR	ORPHA:563612
HP:0001273	Abnormal corpus callosum morphology	57216	VANGL2	ORPHA:563612
HP:0001273	Abnormal corpus callosum morphology	171023	ASXL1	ORPHA:97297
HP:0001273	Abnormal corpus callosum morphology	171023	ASXL1	OMIM:605039
HP:0001273	Abnormal corpus callosum morphology	9896	FIG4	ORPHA:3472
HP:0001273	Abnormal corpus callosum morphology	9896	FIG4	OMIM:216340
HP:0001273	Abnormal corpus callosum morphology	55697	VAC14	ORPHA:3472
HP:0001273	Abnormal corpus callosum morphology	10815	CPLX1	ORPHA:280
HP:0001273	Abnormal corpus callosum morphology	10815	CPLX1	OMIM:194190
HP:0001273	Abnormal corpus callosum morphology	54872	PIGG	ORPHA:280
HP:0001273	Abnormal corpus callosum morphology	7469	NELFA	ORPHA:280
HP:0001273	Abnormal corpus callosum morphology	1487	CTBP1	ORPHA:280
HP:0001273	Abnormal corpus callosum morphology	1487	CTBP1	OMIM:194190
HP:0001273	Abnormal corpus callosum morphology	3954	LETM1	ORPHA:280
HP:0001273	Abnormal corpus callosum morphology	3954	LETM1	OMIM:194190
HP:0001273	Abnormal corpus callosum morphology	7468	NSD2	ORPHA:280
HP:0001273	Abnormal corpus callosum morphology	7468	NSD2	OMIM:194190
HP:0001273	Abnormal corpus callosum morphology	22872	SEC31A	OMIM:618651
HP:0001273	Abnormal corpus callosum morphology	57498	KIDINS220	OMIM:619501
HP:0001273	Abnormal corpus callosum morphology	55012	PPP2R3C	OMIM:618419
HP:0001273	Abnormal corpus callosum morphology	51021	MRPS16	OMIM:610498
HP:0001273	Abnormal corpus callosum morphology	11193	WBP4	OMIM:620852
HP:0001273	Abnormal corpus callosum morphology	23007	PLCH1	ORPHA:93925
HP:0001273	Abnormal corpus callosum morphology	10735	STAG2	ORPHA:93925
HP:0001273	Abnormal corpus callosum morphology	10735	STAG2	OMIM:301043
HP:0001273	Abnormal corpus callosum morphology	10735	STAG2	ORPHA:220386
HP:0001273	Abnormal corpus callosum morphology	79731	NARS2	OMIM:616239
HP:0001273	Abnormal corpus callosum morphology	6602	SMARCD1	OMIM:618779
HP:0001273	Abnormal corpus callosum morphology	6602	SMARCD1	ORPHA:1465
HP:0001273	Abnormal corpus callosum morphology	55623	THUMPD1	OMIM:619989
HP:0001273	Abnormal corpus callosum morphology	53834	FGFRL1	OMIM:194190
HP:0001273	Abnormal corpus callosum morphology	26227	PHGDH	OMIM:256520
HP:0001273	Abnormal corpus callosum morphology	2074	ERCC6	OMIM:214150
HP:0001273	Abnormal corpus callosum morphology	3192	HNRNPU	ORPHA:238769
HP:0001273	Abnormal corpus callosum morphology	9653	HS2ST1	OMIM:619194
HP:0001273	Abnormal corpus callosum morphology	129563	DIS3L2	OMIM:267000
HP:0001273	Abnormal corpus callosum morphology	1947	EFNB1	OMIM:304110
HP:0001273	Abnormal corpus callosum morphology	5518	PPP2R1A	OMIM:616362
HP:0001273	Abnormal corpus callosum morphology	5518	PPP2R1A	ORPHA:457284
HP:0001273	Abnormal corpus callosum morphology	23512	SUZ12	OMIM:618786
HP:0001273	Abnormal corpus callosum morphology	6608	SMO	OMIM:601707
HP:0001273	Abnormal corpus callosum morphology	6608	SMO	ORPHA:1553
HP:0001273	Abnormal corpus callosum morphology	54539	NDUFB11	OMIM:309801
HP:0001273	Abnormal corpus callosum morphology	54539	NDUFB11	ORPHA:2556
HP:0001273	Abnormal corpus callosum morphology	54539	NDUFB11	OMIM:300952
HP:0001273	Abnormal corpus callosum morphology	1349	COX7B	OMIM:309801
HP:0001273	Abnormal corpus callosum morphology	1349	COX7B	OMIM:300887
HP:0001273	Abnormal corpus callosum morphology	1349	COX7B	ORPHA:2556
HP:0001273	Abnormal corpus callosum morphology	3052	HCCS	OMIM:309801
HP:0001273	Abnormal corpus callosum morphology	3052	HCCS	ORPHA:2556
HP:0001273	Abnormal corpus callosum morphology	55773	TBC1D23	OMIM:617695
HP:0001273	Abnormal corpus callosum morphology	5626	PROP1	ORPHA:226307
HP:0001273	Abnormal corpus callosum morphology	5626	PROP1	ORPHA:95494
HP:0001273	Abnormal corpus callosum morphology	89884	LHX4	ORPHA:226307
HP:0001273	Abnormal corpus callosum morphology	89884	LHX4	ORPHA:95494
HP:0001273	Abnormal corpus callosum morphology	8022	LHX3	ORPHA:226307
HP:0001273	Abnormal corpus callosum morphology	5449	POU1F1	ORPHA:226307
HP:0001273	Abnormal corpus callosum morphology	5449	POU1F1	ORPHA:95494
HP:0001273	Abnormal corpus callosum morphology	8820	HESX1	ORPHA:226307
HP:0001273	Abnormal corpus callosum morphology	8820	HESX1	ORPHA:95494
HP:0001273	Abnormal corpus callosum morphology	8820	HESX1	OMIM:182230
HP:0001273	Abnormal corpus callosum morphology	8820	HESX1	ORPHA:3157
HP:0001273	Abnormal corpus callosum morphology	4519	MT-CYB	ORPHA:137675
HP:0001273	Abnormal corpus callosum morphology	5828	PEX2	OMIM:614866
HP:0001273	Abnormal corpus callosum morphology	5590	PRKCZ	ORPHA:1606
HP:0001273	Abnormal corpus callosum morphology	2563	GABRD	ORPHA:1606
HP:0001273	Abnormal corpus callosum morphology	23013	SPEN	ORPHA:1606
HP:0001273	Abnormal corpus callosum morphology	23013	SPEN	OMIM:619312
HP:0001273	Abnormal corpus callosum morphology	8510	MMP23B	ORPHA:1606
HP:0001273	Abnormal corpus callosum morphology	7798	LUZP1	ORPHA:1606
HP:0001273	Abnormal corpus callosum morphology	6497	SKI	ORPHA:1606
HP:0001273	Abnormal corpus callosum morphology	10630	PDPN	ORPHA:1606
HP:0001273	Abnormal corpus callosum morphology	3339	HSPG2	ORPHA:1606
HP:0001273	Abnormal corpus callosum morphology	10277	UBE4B	ORPHA:1606
HP:0001273	Abnormal corpus callosum morphology	8514	KCNAB2	ORPHA:1606
HP:0001273	Abnormal corpus callosum morphology	63976	PRDM16	ORPHA:1606
HP:0001273	Abnormal corpus callosum morphology	54897	CASZ1	ORPHA:1606
HP:0001273	Abnormal corpus callosum morphology	11128	POLR3A	OMIM:264090
HP:0001273	Abnormal corpus callosum morphology	11128	POLR3A	ORPHA:3455
HP:0001273	Abnormal corpus callosum morphology	6558	SLC12A2	OMIM:619083
HP:0001273	Abnormal corpus callosum morphology	10236	HNRNPR	OMIM:620073
HP:0001273	Abnormal corpus callosum morphology	3170	FOXA2	ORPHA:95494
HP:0001273	Abnormal corpus callosum morphology	5015	OTX2	ORPHA:95494
HP:0001273	Abnormal corpus callosum morphology	5015	OTX2	ORPHA:990
HP:0001273	Abnormal corpus callosum morphology	5015	OTX2	ORPHA:3157
HP:0001273	Abnormal corpus callosum morphology	83479	DDX59	ORPHA:2919
HP:0001273	Abnormal corpus callosum morphology	83479	DDX59	OMIM:174300
HP:0001273	Abnormal corpus callosum morphology	11041	B4GAT1	OMIM:615287
HP:0001273	Abnormal corpus callosum morphology	11041	B4GAT1	ORPHA:899
HP:0001273	Abnormal corpus callosum morphology	113179	ADAT3	OMIM:615286
HP:0001273	Abnormal corpus callosum morphology	113179	ADAT3	ORPHA:363528
HP:0001273	Abnormal corpus callosum morphology	9928	KIF14	OMIM:616258
HP:0001273	Abnormal corpus callosum morphology	9928	KIF14	OMIM:617914
HP:0001273	Abnormal corpus callosum morphology	9928	KIF14	ORPHA:2512
HP:0001273	Abnormal corpus callosum morphology	57492	ARID1B	ORPHA:251056
HP:0001273	Abnormal corpus callosum morphology	57492	ARID1B	ORPHA:1465
HP:0001273	Abnormal corpus callosum morphology	2271	FH	OMIM:606812
HP:0001273	Abnormal corpus callosum morphology	57724	EPG5	OMIM:242840
HP:0001273	Abnormal corpus callosum morphology	57724	EPG5	ORPHA:1493
HP:0001273	Abnormal corpus callosum morphology	63895	PIEZO2	OMIM:248700
HP:0001273	Abnormal corpus callosum morphology	63895	PIEZO2	ORPHA:2461
HP:0001273	Abnormal corpus callosum morphology	2239	GPC4	ORPHA:373
HP:0001273	Abnormal corpus callosum morphology	2239	GPC4	OMIM:312870
HP:0001273	Abnormal corpus callosum morphology	2719	GPC3	ORPHA:373
HP:0001273	Abnormal corpus callosum morphology	2719	GPC3	OMIM:312870
HP:0001273	Abnormal corpus callosum morphology	197258	FCSK	OMIM:618324
HP:0001273	Abnormal corpus callosum morphology	10463	SLC30A9	OMIM:617595
HP:0001273	Abnormal corpus callosum morphology	8565	YARS1	OMIM:619418
HP:0001273	Abnormal corpus callosum morphology	2678	GGT1	OMIM:231950
HP:0001273	Abnormal corpus callosum morphology	64919	BCL11B	OMIM:617237
HP:0001273	Abnormal corpus callosum morphology	11023	VAX1	OMIM:614402
HP:0001273	Abnormal corpus callosum morphology	51645	PPIL1	OMIM:619301
HP:0001273	Abnormal corpus callosum morphology	51362	CDC40	OMIM:619302
HP:0001273	Abnormal corpus callosum morphology	8621	CDK13	OMIM:617360
HP:0001273	Abnormal corpus callosum morphology	5881	RAC3	OMIM:618577
HP:0001273	Abnormal corpus callosum morphology	60529	ALX4	ORPHA:228390
HP:0001273	Abnormal corpus callosum morphology	55280	CWF19L1	ORPHA:453521
HP:0001273	Abnormal corpus callosum morphology	3897	L1CAM	ORPHA:2466
HP:0001273	Abnormal corpus callosum morphology	3897	L1CAM	OMIM:303350
HP:0001273	Abnormal corpus callosum morphology	3897	L1CAM	OMIM:307000
HP:0001273	Abnormal corpus callosum morphology	3897	L1CAM	ORPHA:2182
HP:0001273	Abnormal corpus callosum morphology	9990	SLC12A6	ORPHA:1496
HP:0001273	Abnormal corpus callosum morphology	9990	SLC12A6	OMIM:218000
HP:0001273	Abnormal corpus callosum morphology	164	AP1G1	OMIM:619548
HP:0001273	Abnormal corpus callosum morphology	1801	DPH1	ORPHA:459061
HP:0001273	Abnormal corpus callosum morphology	1802	DPH2	ORPHA:459061
HP:0001273	Abnormal corpus callosum morphology	22827	PUF60	ORPHA:508498
HP:0001273	Abnormal corpus callosum morphology	5888	RAD51	ORPHA:238722
HP:0001273	Abnormal corpus callosum morphology	5888	RAD51	OMIM:157600
HP:0001273	Abnormal corpus callosum morphology	10126	DNAL4	ORPHA:238722
HP:0001273	Abnormal corpus callosum morphology	9423	NTN1	ORPHA:238722
HP:0001273	Abnormal corpus callosum morphology	9423	NTN1	OMIM:157600
HP:0001273	Abnormal corpus callosum morphology	4558	MT-TF	ORPHA:550
HP:0001273	Abnormal corpus callosum morphology	4572	MT-TQ	ORPHA:550
HP:0001273	Abnormal corpus callosum morphology	4512	MT-CO1	ORPHA:550
HP:0001273	Abnormal corpus callosum morphology	4513	MT-CO2	ORPHA:550
HP:0001273	Abnormal corpus callosum morphology	4514	MT-CO3	ORPHA:550
HP:0001273	Abnormal corpus callosum morphology	4578	MT-TW	ORPHA:550
HP:0001273	Abnormal corpus callosum morphology	4540	MT-ND5	ORPHA:550
HP:0001273	Abnormal corpus callosum morphology	4541	MT-ND6	ORPHA:550
HP:0001273	Abnormal corpus callosum morphology	4535	MT-ND1	ORPHA:550
HP:0001273	Abnormal corpus callosum morphology	4538	MT-ND4	ORPHA:550
HP:0001273	Abnormal corpus callosum morphology	4567	MT-TL1	ORPHA:550
HP:0001273	Abnormal corpus callosum morphology	4574	MT-TS1	ORPHA:550
HP:0001273	Abnormal corpus callosum morphology	4575	MT-TS2	ORPHA:550
HP:0001273	Abnormal corpus callosum morphology	4564	MT-TH	ORPHA:550
HP:0001273	Abnormal corpus callosum morphology	56896	DPYSL5	OMIM:619435
HP:0001273	Abnormal corpus callosum morphology	2879	GPX4	ORPHA:93317
HP:0001273	Abnormal corpus callosum morphology	54973	INTS11	OMIM:620428
HP:0001273	Abnormal corpus callosum morphology	5396	PRRX1	OMIM:202650
HP:0001273	Abnormal corpus callosum morphology	5396	PRRX1	ORPHA:990
HP:0001273	Abnormal corpus callosum morphology	7545	ZIC1	OMIM:616602
HP:0001273	Abnormal corpus callosum morphology	7545	ZIC1	OMIM:618736
HP:0001273	Abnormal corpus callosum morphology	79813	EHMT1	ORPHA:96147
HP:0001273	Abnormal corpus callosum morphology	84320	ACBD6	OMIM:620785
HP:0001273	Abnormal corpus callosum morphology	7473	WNT3	ORPHA:3301
HP:0001273	Abnormal corpus callosum morphology	340419	RSPO2	ORPHA:3301
HP:0001273	Abnormal corpus callosum morphology	9496	TBX4	ORPHA:3301
HP:0001273	Abnormal corpus callosum morphology	55593	OTUD5	OMIM:301056
HP:0001273	Abnormal corpus callosum morphology	7707	ZNF148	OMIM:617260
HP:0001273	Abnormal corpus callosum morphology	5649	RELN	ORPHA:89844
HP:0001273	Abnormal corpus callosum morphology	10300	KATNB1	ORPHA:89844
HP:0001273	Abnormal corpus callosum morphology	54820	NDE1	ORPHA:89844
HP:0001273	Abnormal corpus callosum morphology	54820	NDE1	OMIM:605013
HP:0001273	Abnormal corpus callosum morphology	54820	NDE1	OMIM:614019
HP:0001273	Abnormal corpus callosum morphology	23030	KDM4B	OMIM:619320
HP:0001273	Abnormal corpus callosum morphology	5160	PDHA1	OMIM:312170
HP:0001273	Abnormal corpus callosum morphology	5160	PDHA1	ORPHA:79243
HP:0001273	Abnormal corpus callosum morphology	1806	DPYD	OMIM:274270
HP:0001273	Abnormal corpus callosum morphology	55215	FANCI	OMIM:609053
HP:0001273	Abnormal corpus callosum morphology	8320	EOMES	ORPHA:171703
HP:0001273	Abnormal corpus callosum morphology	79133	NDUFAF5	OMIM:618238
HP:0001273	Abnormal corpus callosum morphology	157922	CAMSAP1	OMIM:620316
HP:0001273	Abnormal corpus callosum morphology	55997	CFC1	OMIM:605376
HP:0001273	Abnormal corpus callosum morphology	29954	POMT2	OMIM:236670
HP:0001273	Abnormal corpus callosum morphology	29954	POMT2	ORPHA:899
HP:0001273	Abnormal corpus callosum morphology	29954	POMT2	ORPHA:370959
HP:0001273	Abnormal corpus callosum morphology	29954	POMT2	OMIM:613150
HP:0001273	Abnormal corpus callosum morphology	79147	FKRP	OMIM:236670
HP:0001273	Abnormal corpus callosum morphology	79147	FKRP	ORPHA:899
HP:0001273	Abnormal corpus callosum morphology	79147	FKRP	ORPHA:370959
HP:0001273	Abnormal corpus callosum morphology	79147	FKRP	OMIM:613153
HP:0001273	Abnormal corpus callosum morphology	10585	POMT1	OMIM:236670
HP:0001273	Abnormal corpus callosum morphology	10585	POMT1	ORPHA:899
HP:0001273	Abnormal corpus callosum morphology	10585	POMT1	ORPHA:370959
HP:0001273	Abnormal corpus callosum morphology	9215	LARGE1	OMIM:236670
HP:0001273	Abnormal corpus callosum morphology	9215	LARGE1	ORPHA:899
HP:0001273	Abnormal corpus callosum morphology	84892	POMGNT2	ORPHA:899
HP:0001273	Abnormal corpus callosum morphology	148789	B3GALNT2	ORPHA:899
HP:0001273	Abnormal corpus callosum morphology	1282	COL4A1	ORPHA:899
HP:0001273	Abnormal corpus callosum morphology	729920	CRPPA	ORPHA:899
HP:0001273	Abnormal corpus callosum morphology	10329	RXYLT1	ORPHA:899
HP:0001273	Abnormal corpus callosum morphology	1605	DAG1	ORPHA:899
HP:0001273	Abnormal corpus callosum morphology	6657	SOX2	ORPHA:77298
HP:0001273	Abnormal corpus callosum morphology	6657	SOX2	OMIM:206900
HP:0001273	Abnormal corpus callosum morphology	6657	SOX2	ORPHA:3157
HP:0001273	Abnormal corpus callosum morphology	4784	NFIX	OMIM:602535
HP:0001273	Abnormal corpus callosum morphology	63925	ZNF335	OMIM:615095
HP:0001273	Abnormal corpus callosum morphology	2657	GDF1	OMIM:208530
HP:0001273	Abnormal corpus callosum morphology	6659	SOX4	ORPHA:1465
HP:0001273	Abnormal corpus callosum morphology	5977	DPF2	ORPHA:1465
HP:0001273	Abnormal corpus callosum morphology	196528	ARID2	ORPHA:1465
HP:0001273	Abnormal corpus callosum morphology	6605	SMARCE1	ORPHA:1465
HP:0001273	Abnormal corpus callosum morphology	6664	SOX11	ORPHA:1465
HP:0001273	Abnormal corpus callosum morphology	5831	PYCR1	OMIM:612940
HP:0001273	Abnormal corpus callosum morphology	29920	PYCR2	ORPHA:481152
HP:0001273	Abnormal corpus callosum morphology	29920	PYCR2	ORPHA:2512
HP:0001273	Abnormal corpus callosum morphology	1063	CENPF	OMIM:243605
HP:0001273	Abnormal corpus callosum morphology	9361	LONP1	ORPHA:79243
HP:0001273	Abnormal corpus callosum morphology	1000	CDH2	OMIM:618929
HP:0001273	Abnormal corpus callosum morphology	1781	DYNC1I2	OMIM:618492
HP:0001273	Abnormal corpus callosum morphology	1583	CYP11A1	ORPHA:289548
HP:0001273	Abnormal corpus callosum morphology	1583	CYP11A1	ORPHA:168558
HP:0001273	Abnormal corpus callosum morphology	1641	DCX	OMIM:300067
HP:0001273	Abnormal corpus callosum morphology	7161	TP73	OMIM:619466
HP:0001273	Abnormal corpus callosum morphology	2009	EML1	OMIM:600348
HP:0001273	Abnormal corpus callosum morphology	84342	COG8	OMIM:611182
HP:0001273	Abnormal corpus callosum morphology	5395	PMS2	OMIM:619101
HP:0001273	Abnormal corpus callosum morphology	4990	SIX6	OMIM:206900
HP:0001273	Abnormal corpus callosum morphology	2313	FLI1	ORPHA:2308
HP:0001273	Abnormal corpus callosum morphology	60386	SLC25A19	ORPHA:99742
HP:0001273	Abnormal corpus callosum morphology	60	ACTB	OMIM:243310
HP:0001273	Abnormal corpus callosum morphology	64840	PORCN	OMIM:305600
HP:0001273	Abnormal corpus callosum morphology	71	ACTG1	OMIM:614583
HP:0001273	Abnormal corpus callosum morphology	28962	OSTM1	ORPHA:85179
HP:0001273	Abnormal corpus callosum morphology	348180	CTU2	OMIM:618142
HP:0001273	Abnormal corpus callosum morphology	26576	SRPK3	OMIM:301134
HP:0001273	Abnormal corpus callosum morphology	29925	GMPPB	ORPHA:370959
HP:0001273	Abnormal corpus callosum morphology	374879	ZNF699	OMIM:619488
HP:0001273	Abnormal corpus callosum morphology	55640	FLVCR2	OMIM:225790
HP:0001273	Abnormal corpus callosum morphology	6299	SALL1	ORPHA:857
HP:0001273	Abnormal corpus callosum morphology	51339	DACT1	ORPHA:857
HP:0001273	Abnormal corpus callosum morphology	118924	FRA10AC1	OMIM:620113
HP:0001273	Abnormal corpus callosum morphology	1376	CPT2	OMIM:608836
HP:0001273	Abnormal corpus callosum morphology	1376	CPT2	ORPHA:228308
HP:0001273	Abnormal corpus callosum morphology	259266	ASPM	OMIM:608716
HP:0001273	Abnormal corpus callosum morphology	259266	ASPM	ORPHA:2512
HP:0001273	Abnormal corpus callosum morphology	2177	FANCD2	OMIM:227646
HP:0001273	Abnormal corpus callosum morphology	84823	LMNB2	OMIM:616540
HP:0001273	Abnormal corpus callosum morphology	8243	SMC1A	ORPHA:220386
HP:0001273	Abnormal corpus callosum morphology	8777	MPDZ	OMIM:615219
HP:0001273	Abnormal corpus callosum morphology	5430	POLR2A	OMIM:618603
HP:0001273	Abnormal corpus callosum morphology	4292	MLH1	OMIM:276300
HP:0001273	Abnormal corpus callosum morphology	22995	CEP152	ORPHA:2512
HP:0001273	Abnormal corpus callosum morphology	284403	WDR62	ORPHA:2512
HP:0001273	Abnormal corpus callosum morphology	55262	TRAPPC14	ORPHA:2512
HP:0001273	Abnormal corpus callosum morphology	163786	SASS6	ORPHA:2512
HP:0001273	Abnormal corpus callosum morphology	84879	MFSD2A	ORPHA:2512
HP:0001273	Abnormal corpus callosum morphology	4176	MCM7	ORPHA:2512
HP:0001273	Abnormal corpus callosum morphology	80254	CEP63	ORPHA:2512
HP:0001273	Abnormal corpus callosum morphology	29081	METTL5	ORPHA:2512
HP:0001273	Abnormal corpus callosum morphology	79023	NUP37	ORPHA:2512
HP:0001273	Abnormal corpus callosum morphology	23310	NCAPD3	ORPHA:2512
HP:0001273	Abnormal corpus callosum morphology	6301	SARS1	ORPHA:2512
HP:0001273	Abnormal corpus callosum morphology	55755	CDK5RAP2	ORPHA:2512
HP:0001273	Abnormal corpus callosum morphology	79648	MCPH1	ORPHA:2512
HP:0001273	Abnormal corpus callosum morphology	7109	TRAPPC10	ORPHA:2512
HP:0001273	Abnormal corpus callosum morphology	1911	PHC1	ORPHA:2512
HP:0001273	Abnormal corpus callosum morphology	1062	CENPE	ORPHA:2512
HP:0001273	Abnormal corpus callosum morphology	6884	TAF13	ORPHA:2512
HP:0001273	Abnormal corpus callosum morphology	9662	CEP135	ORPHA:2512
HP:0001273	Abnormal corpus callosum morphology	57082	KNL1	ORPHA:2512
HP:0001273	Abnormal corpus callosum morphology	1021	CDK6	ORPHA:2512
HP:0001273	Abnormal corpus callosum morphology	18	ABAT	OMIM:613163
HP:0001273	Abnormal corpus callosum morphology	8449	DHX16	OMIM:618733
HP:0001273	Abnormal corpus callosum morphology	128674	PROKR2	ORPHA:3157
HP:0001273	Abnormal corpus callosum morphology	6658	SOX3	ORPHA:3157
HP:0001273	Abnormal corpus callosum morphology	9915	ARNT2	ORPHA:3157
HP:0001273	Abnormal corpus callosum morphology	283450	HECTD4	OMIM:620250
HP:0001273	Abnormal corpus callosum morphology	2615	LRRC32	OMIM:619074
HP:0001273	Abnormal corpus callosum morphology	10128	LRPPRC	OMIM:220111
HP:0001273	Abnormal corpus callosum morphology	10785	WDR4	OMIM:618346
HP:0001273	Abnormal corpus callosum morphology	6938	TCF12	OMIM:615314
HP:0001273	Abnormal corpus callosum morphology	136647	MPLKIP	OMIM:234050
HP:0001273	Abnormal corpus callosum morphology	136647	MPLKIP	ORPHA:33364
HP:0001273	Abnormal corpus callosum morphology	10733	PLK4	OMIM:616171
HP:0001273	Abnormal corpus callosum morphology	4190	MDH1	OMIM:618959
HP:0001273	Abnormal corpus callosum morphology	139285	AMER1	OMIM:300373
HP:0001273	Abnormal corpus callosum morphology	54916	TMEM260	OMIM:617478
HP:0001273	Abnormal corpus callosum morphology	404672	GTF2H5	ORPHA:33364
HP:0001273	Abnormal corpus callosum morphology	2068	ERCC2	ORPHA:33364
HP:0001273	Abnormal corpus callosum morphology	7737	RNF113A	ORPHA:33364
HP:0001273	Abnormal corpus callosum morphology	6897	TARS1	ORPHA:33364
HP:0001273	Abnormal corpus callosum morphology	2071	ERCC3	ORPHA:33364
HP:0001273	Abnormal corpus callosum morphology	2961	GTF2E2	ORPHA:33364
HP:0001273	Abnormal corpus callosum morphology	64432	MRPS25	OMIM:619025
HP:0001273	Abnormal corpus callosum morphology	2137	EXTL3	ORPHA:508533
HP:0001273	Abnormal corpus callosum morphology	8036	SHOC2	OMIM:607721
HP:0001273	Abnormal corpus callosum morphology	23394	ADNP	ORPHA:404448
HP:0001273	Abnormal corpus callosum morphology	10617	STAMBP	OMIM:614261
HP:0001273	Abnormal corpus callosum morphology	104	ADARB1	OMIM:618862
HP:0001273	Abnormal corpus callosum morphology	9853	RUSC2	OMIM:617773
HP:0001273	Abnormal corpus callosum morphology	1763	DNA2	OMIM:620819
HP:0001273	Abnormal corpus callosum morphology	55823	VPS11	OMIM:616683
HP:0001273	Abnormal corpus callosum morphology	55823	VPS11	ORPHA:466934
HP:0001273	Abnormal corpus callosum morphology	2775	GNAO1	OMIM:615473
HP:0001273	Abnormal corpus callosum morphology	2775	GNAO1	ORPHA:1934
HP:0001273	Abnormal corpus callosum morphology	2775	GNAO1	OMIM:617493
HP:0001273	Abnormal corpus callosum morphology	6873	TAF2	OMIM:615599
HP:0001273	Abnormal corpus callosum morphology	6873	TAF2	ORPHA:397951
HP:0001273	Abnormal corpus callosum morphology	7360	UGP2	OMIM:618744
HP:0001273	Abnormal corpus callosum morphology	5927	KDM5A	OMIM:620820
HP:0001273	Abnormal corpus callosum morphology	84942	WDR73	OMIM:251300
HP:0001273	Abnormal corpus callosum morphology	80816	ASXL3	OMIM:615485
HP:0001273	Abnormal corpus callosum morphology	6536	SLC6A9	OMIM:617301
HP:0001273	Abnormal corpus callosum morphology	5917	RARS1	ORPHA:438114
HP:0001273	Abnormal corpus callosum morphology	5917	RARS1	OMIM:616140
HP:0001273	Abnormal corpus callosum morphology	375387	NRROS	OMIM:618875
HP:0001273	Abnormal corpus callosum morphology	5610	EIF2AK2	OMIM:618877
HP:0001273	Abnormal corpus callosum morphology	83696	TRAPPC9	OMIM:613192
HP:0001273	Abnormal corpus callosum morphology	83696	TRAPPC9	ORPHA:352530
HP:0001273	Abnormal corpus callosum morphology	7343	UBTF	OMIM:617672
HP:0001273	Abnormal corpus callosum morphology	7343	UBTF	ORPHA:500180
HP:0001273	Abnormal corpus callosum morphology	6844	VAMP2	OMIM:618760
HP:0001273	Abnormal corpus callosum morphology	79029	AFG2B	OMIM:619616
HP:0001273	Abnormal corpus callosum morphology	1183	CLCN4	ORPHA:485350
HP:0001273	Abnormal corpus callosum morphology	1183	CLCN4	OMIM:300114
HP:0001273	Abnormal corpus callosum morphology	6872	TAF1	ORPHA:480907
HP:0001273	Abnormal corpus callosum morphology	6872	TAF1	OMIM:300966
HP:0001273	Abnormal corpus callosum morphology	4763	NF1	ORPHA:363700
HP:0001273	Abnormal corpus callosum morphology	1656	DDX6	OMIM:618653
HP:0001273	Abnormal corpus callosum morphology	25930	PTPN23	OMIM:618890
HP:0001273	Abnormal corpus callosum morphology	23327	NEDD4L	OMIM:617201
HP:0001273	Abnormal corpus callosum morphology	833	CARS1	OMIM:618891
HP:0001273	Abnormal corpus callosum morphology	2903	GRIN2A	ORPHA:289266
HP:0001273	Abnormal corpus callosum morphology	2903	GRIN2A	ORPHA:163721
HP:0001273	Abnormal corpus callosum morphology	57178	ZMIZ1	OMIM:618659
HP:0001273	Abnormal corpus callosum morphology	8550	MAPKAPK5	OMIM:619869
HP:0001273	Abnormal corpus callosum morphology	6905	TBCE	OMIM:617207
HP:0001273	Abnormal corpus callosum morphology	6905	TBCE	OMIM:241410
HP:0001273	Abnormal corpus callosum morphology	6905	TBCE	ORPHA:496756
HP:0001273	Abnormal corpus callosum morphology	55361	PI4K2A	OMIM:620732
HP:0001273	Abnormal corpus callosum morphology	26040	SETBP1	OMIM:269150
HP:0001273	Abnormal corpus callosum morphology	26040	SETBP1	ORPHA:798
HP:0001273	Abnormal corpus callosum morphology	1499	CTNNB1	ORPHA:404473
HP:0001273	Abnormal corpus callosum morphology	1499	CTNNB1	OMIM:615075
HP:0001273	Abnormal corpus callosum morphology	113612	CYP2U1	OMIM:615030
HP:0001273	Abnormal corpus callosum morphology	113612	CYP2U1	ORPHA:320411
HP:0001273	Abnormal corpus callosum morphology	2261	FGFR3	OMIM:616482
HP:0001273	Abnormal corpus callosum morphology	2261	FGFR3	ORPHA:85165
HP:0001273	Abnormal corpus callosum morphology	9895	TECPR2	OMIM:615031
HP:0001273	Abnormal corpus callosum morphology	9895	TECPR2	ORPHA:320385
HP:0001273	Abnormal corpus callosum morphology	10717	AP4B1	OMIM:614066
HP:0001273	Abnormal corpus callosum morphology	10717	AP4B1	ORPHA:280763
HP:0001273	Abnormal corpus callosum morphology	91574	MTRFR	OMIM:615035
HP:0001273	Abnormal corpus callosum morphology	91574	MTRFR	ORPHA:320375
HP:0001273	Abnormal corpus callosum morphology	91574	MTRFR	ORPHA:254930
HP:0001273	Abnormal corpus callosum morphology	23259	DDHD2	OMIM:615033
HP:0001273	Abnormal corpus callosum morphology	23259	DDHD2	ORPHA:320380
HP:0001273	Abnormal corpus callosum morphology	4613	MYCN	OMIM:620748
HP:0001273	Abnormal corpus callosum morphology	7531	YWHAE	ORPHA:217385
HP:0001273	Abnormal corpus callosum morphology	7531	YWHAE	ORPHA:531
HP:0001273	Abnormal corpus callosum morphology	3098	HK1	OMIM:618547
HP:0001273	Abnormal corpus callosum morphology	26137	ZBTB20	OMIM:259050
HP:0001273	Abnormal corpus callosum morphology	9533	POLR1C	OMIM:616494
HP:0001273	Abnormal corpus callosum morphology	1615	DARS1	OMIM:615281
HP:0001273	Abnormal corpus callosum morphology	3800	KIF5C	OMIM:615282
HP:0001273	Abnormal corpus callosum morphology	253959	RALGAPA1	OMIM:618797
HP:0001273	Abnormal corpus callosum morphology	51098	IFT52	OMIM:617102
HP:0001273	Abnormal corpus callosum morphology	57466	SCAF4	OMIM:620511
HP:0001273	Abnormal corpus callosum morphology	79971	WLS	OMIM:619648
HP:0001273	Abnormal corpus callosum morphology	7841	MOGS	ORPHA:79330
HP:0001273	Abnormal corpus callosum morphology	7841	MOGS	OMIM:606056
HP:0001273	Abnormal corpus callosum morphology	4208	MEF2C	ORPHA:228384
HP:0001273	Abnormal corpus callosum morphology	23162	MAPK8IP3	OMIM:618443
HP:0001273	Abnormal corpus callosum morphology	3798	KIF5A	OMIM:617235
HP:0001273	Abnormal corpus callosum morphology	51227	PIGP	OMIM:617599
HP:0001273	Abnormal corpus callosum morphology	51227	PIGP	ORPHA:1934
HP:0001273	Abnormal corpus callosum morphology	51062	ATL1	OMIM:182600
HP:0001273	Abnormal corpus callosum morphology	10195	ALG3	ORPHA:79321
HP:0001273	Abnormal corpus callosum morphology	79087	ALG12	ORPHA:79324
HP:0001273	Abnormal corpus callosum morphology	79053	ALG8	ORPHA:79325
HP:0001273	Abnormal corpus callosum morphology	8295	TRRAP	OMIM:618454
HP:0001273	Abnormal corpus callosum morphology	9742	IFT140	OMIM:266920
HP:0001273	Abnormal corpus callosum morphology	7040	TGFB1	OMIM:618213
HP:0001273	Abnormal corpus callosum morphology	133686	NADK2	OMIM:616034
HP:0001273	Abnormal corpus callosum morphology	133686	NADK2	ORPHA:431361
HP:0001273	Abnormal corpus callosum morphology	27429	HTRA2	OMIM:617248
HP:0001273	Abnormal corpus callosum morphology	11338	U2AF2	OMIM:620535
HP:0001273	Abnormal corpus callosum morphology	51013	EXOSC1	OMIM:619304
HP:0001273	Abnormal corpus callosum morphology	55770	EXOC2	OMIM:619306
HP:0001273	Abnormal corpus callosum morphology	6792	CDKL5	ORPHA:1934
HP:0001273	Abnormal corpus callosum morphology	3736	KCNA1	ORPHA:1934
HP:0001273	Abnormal corpus callosum morphology	9091	PIGQ	ORPHA:1934
HP:0001273	Abnormal corpus callosum morphology	81603	TRIM8	ORPHA:1934
HP:0001273	Abnormal corpus callosum morphology	2902	GRIN1	ORPHA:1934
HP:0001273	Abnormal corpus callosum morphology	2902	GRIN1	ORPHA:208447
HP:0001273	Abnormal corpus callosum morphology	2902	GRIN1	OMIM:617820
HP:0001273	Abnormal corpus callosum morphology	2902	GRIN1	OMIM:614254
HP:0001273	Abnormal corpus callosum morphology	150094	SIK1	ORPHA:1934
HP:0001273	Abnormal corpus callosum morphology	8573	CASK	ORPHA:1934
HP:0001273	Abnormal corpus callosum morphology	23312	DMXL2	ORPHA:1934
HP:0001273	Abnormal corpus callosum morphology	2917	GRM7	ORPHA:1934
HP:0001273	Abnormal corpus callosum morphology	2917	GRM7	OMIM:618922
HP:0001273	Abnormal corpus callosum morphology	11284	PNKP	ORPHA:1934
HP:0001273	Abnormal corpus callosum morphology	11284	PNKP	OMIM:613402
HP:0001273	Abnormal corpus callosum morphology	6324	SCN1B	ORPHA:1934
HP:0001273	Abnormal corpus callosum morphology	4761	NEUROD2	ORPHA:1934
HP:0001273	Abnormal corpus callosum morphology	4761	NEUROD2	OMIM:618374
HP:0001273	Abnormal corpus callosum morphology	9488	PIGB	OMIM:618580
HP:0001273	Abnormal corpus callosum morphology	3912	LAMB1	OMIM:615191
HP:0001273	Abnormal corpus callosum morphology	84706	GPT2	OMIM:616281
HP:0001273	Abnormal corpus callosum morphology	84706	GPT2	ORPHA:477673
HP:0001273	Abnormal corpus callosum morphology	160418	TMTC3	OMIM:617255
HP:0001273	Abnormal corpus callosum morphology	8506	CNTNAP1	OMIM:616286
HP:0001273	Abnormal corpus callosum morphology	8506	CNTNAP1	OMIM:618186
HP:0001273	Abnormal corpus callosum morphology	2187	FANCB	OMIM:300514
HP:0001273	Abnormal corpus callosum morphology	10765	KDM5B	OMIM:618109
HP:0001273	Abnormal corpus callosum morphology	10564	ARFGEF2	OMIM:608097
HP:0001273	Abnormal corpus callosum morphology	85476	GFM1	OMIM:609060
HP:0001273	Abnormal corpus callosum morphology	2671	GFER	ORPHA:330054
HP:0001273	Abnormal corpus callosum morphology	11160	ERLIN2	ORPHA:209951
HP:0001273	Abnormal corpus callosum morphology	11160	ERLIN2	OMIM:611225
HP:0001273	Abnormal corpus callosum morphology	56945	MRPS22	OMIM:611719
HP:0001273	Abnormal corpus callosum morphology	128869	PIGU	OMIM:618590
HP:0001273	Abnormal corpus callosum morphology	5631	PRPS1	ORPHA:423479
HP:0001273	Abnormal corpus callosum morphology	5515	PPP2CA	OMIM:618354
HP:0001273	Abnormal corpus callosum morphology	55610	VPS50	OMIM:619685
HP:0001273	Abnormal corpus callosum morphology	4695	NDUFA2	OMIM:618235
HP:0001273	Abnormal corpus callosum morphology	8312	AXIN1	OMIM:620558
HP:0001273	Abnormal corpus callosum morphology	5660	PSAP	OMIM:611721
HP:0001273	Abnormal corpus callosum morphology	26128	KIFBP	ORPHA:66629
HP:0001273	Abnormal corpus callosum morphology	26128	KIFBP	OMIM:609460
HP:0001273	Abnormal corpus callosum morphology	9179	AP4M1	OMIM:612936
HP:0001273	Abnormal corpus callosum morphology	9179	AP4M1	ORPHA:280763
HP:0001273	Abnormal corpus callosum morphology	6904	TBCD	ORPHA:496641
HP:0001273	Abnormal corpus callosum morphology	6904	TBCD	OMIM:617193
HP:0001273	Abnormal corpus callosum morphology	7337	UBE3A	ORPHA:98794
HP:0001273	Abnormal corpus callosum morphology	4948	OCA2	ORPHA:98794
HP:0001273	Abnormal corpus callosum morphology	22796	COG2	OMIM:617395
HP:0001273	Abnormal corpus callosum morphology	22796	COG2	ORPHA:435934
HP:0001273	Abnormal corpus callosum morphology	2560	GABRB1	OMIM:617153
HP:0001273	Abnormal corpus callosum morphology	10588	MTHFS	OMIM:618367
HP:0001273	Abnormal corpus callosum morphology	23221	RHOBTB2	OMIM:618004
HP:0001273	Abnormal corpus callosum morphology	23476	BRD4	OMIM:620568
HP:0001273	Abnormal corpus callosum morphology	7965	AIMP2	OMIM:618006
HP:0001273	Abnormal corpus callosum morphology	201163	FLCN	OMIM:610883
HP:0001273	Abnormal corpus callosum morphology	7703	PCGF2	OMIM:618371
HP:0001273	Abnormal corpus callosum morphology	29968	PSAT1	ORPHA:284417
HP:0001273	Abnormal corpus callosum morphology	191	AHCY	ORPHA:88618
HP:0001273	Abnormal corpus callosum morphology	11342	RNF13	OMIM:618379
HP:0001273	Abnormal corpus callosum morphology	11342	RNF13	ORPHA:544503
HP:0001273	Abnormal corpus callosum morphology	9758	FRMPD4	OMIM:300983
HP:0001273	Abnormal corpus callosum morphology	1822	ATN1	OMIM:618494
HP:0001273	Abnormal corpus callosum morphology	5332	PLCB4	OMIM:620458
HP:0001273	Abnormal corpus callosum morphology	8883	NAE1	OMIM:620210
HP:0001273	Abnormal corpus callosum morphology	80185	TTI2	ORPHA:391307
HP:0001273	Abnormal corpus callosum morphology	50801	KCNK4	OMIM:618381
HP:0001273	Abnormal corpus callosum morphology	84265	POLR3GL	OMIM:619234
HP:0001273	Abnormal corpus callosum morphology	2892	GRIA3	ORPHA:364028
HP:0001273	Abnormal corpus callosum morphology	26005	C2CD3	ORPHA:434179
HP:0001273	Abnormal corpus callosum morphology	26005	C2CD3	OMIM:615948
HP:0001273	Abnormal corpus callosum morphology	57514	ARHGAP31	OMIM:100300
HP:0001273	Abnormal corpus callosum morphology	2571	GAD1	OMIM:619124
HP:0001273	Abnormal corpus callosum morphology	2222	FDFT1	OMIM:618156
HP:0001273	Abnormal corpus callosum morphology	285590	SH3PXD2B	OMIM:249420
HP:0001273	Abnormal corpus callosum morphology	90522	YIF1B	OMIM:619125
HP:0001273	Abnormal corpus callosum morphology	8239	USP9X	OMIM:300968
HP:0001273	Abnormal corpus callosum morphology	8239	USP9X	ORPHA:480880
HP:0001273	Abnormal corpus callosum morphology	9326	ZNHIT3	OMIM:260565
HP:0001273	Abnormal corpus callosum morphology	6472	SHMT2	OMIM:619121
HP:0001273	Abnormal corpus callosum morphology	29123	ANKRD11	ORPHA:261250
HP:0001273	Abnormal corpus callosum morphology	8911	CACNA1I	OMIM:620114
HP:0001273	Abnormal corpus callosum morphology	93587	TRMT10A	ORPHA:391408
HP:0001273	Abnormal corpus callosum morphology	84919	PPP1R15B	ORPHA:391408
HP:0001273	Abnormal corpus callosum morphology	84919	PPP1R15B	OMIM:616817
HP:0001273	Abnormal corpus callosum morphology	3090	HIC1	ORPHA:531
HP:0001273	Abnormal corpus callosum morphology	6748	SSR4	ORPHA:370927
HP:0001273	Abnormal corpus callosum morphology	6748	SSR4	OMIM:300934
HP:0001273	Abnormal corpus callosum morphology	2629	GBA1	ORPHA:2072
HP:0001273	Abnormal corpus callosum morphology	340533	NEXMIF	ORPHA:85277
HP:0001273	Abnormal corpus callosum morphology	89970	RSPRY1	ORPHA:457395
HP:0001273	Abnormal corpus callosum morphology	54187	NANS	OMIM:610442
HP:0001273	Abnormal corpus callosum morphology	55005	RMND1	OMIM:614922
HP:0001273	Abnormal corpus callosum morphology	84153	RNASEH2C	OMIM:610329
HP:0001273	Abnormal corpus callosum morphology	84153	RNASEH2C	ORPHA:51
HP:0001273	Abnormal corpus callosum morphology	10079	ATP9A	OMIM:620242
HP:0001273	Abnormal corpus callosum morphology	23299	BICD2	OMIM:618291
HP:0001273	Abnormal corpus callosum morphology	64802	NMNAT1	OMIM:619260
HP:0001273	Abnormal corpus callosum morphology	129285	PPP1R21	OMIM:619383
HP:0001273	Abnormal corpus callosum morphology	114034	TOE1	ORPHA:284339
HP:0001273	Abnormal corpus callosum morphology	114034	TOE1	OMIM:614969
HP:0001273	Abnormal corpus callosum morphology	84842	HPDL	OMIM:619026
HP:0001273	Abnormal corpus callosum morphology	1496	CTNNA2	OMIM:618174
HP:0001273	Abnormal corpus callosum morphology	27445	PCLO	OMIM:608027
HP:0001273	Abnormal corpus callosum morphology	3480	IGF1R	OMIM:270450
HP:0001273	Abnormal corpus callosum morphology	8085	KMT2D	OMIM:147920
HP:0001273	Abnormal corpus callosum morphology	7403	KDM6A	OMIM:147920
HP:0001273	Abnormal corpus callosum morphology	10682	EBP	ORPHA:401973
HP:0001273	Abnormal corpus callosum morphology	6095	RORA	OMIM:618060
HP:0001273	Abnormal corpus callosum morphology	8450	CUL4B	OMIM:300354
HP:0001273	Abnormal corpus callosum morphology	9131	AIFM1	OMIM:300232
HP:0001273	Abnormal corpus callosum morphology	9131	AIFM1	ORPHA:83629
HP:0001273	Abnormal corpus callosum morphology	6535	SLC6A8	OMIM:300352
HP:0001273	Abnormal corpus callosum morphology	8496	PPFIBP1	OMIM:620024
HP:0001273	Abnormal corpus callosum morphology	132158	GLYCTK	ORPHA:941
HP:0001273	Abnormal corpus callosum morphology	57176	VARS2	OMIM:615917
HP:0001273	Abnormal corpus callosum morphology	80222	TARS2	OMIM:615918
HP:0001273	Abnormal corpus callosum morphology	54209	TREM2	OMIM:618193
HP:0001273	Abnormal corpus callosum morphology	200205	IBA57	ORPHA:468661
HP:0001273	Abnormal corpus callosum morphology	200205	IBA57	OMIM:615330
HP:0001273	Abnormal corpus callosum morphology	89910	UBE3B	OMIM:244450
HP:0001273	Abnormal corpus callosum morphology	29072	SETD2	OMIM:620157
HP:0001273	Abnormal corpus callosum morphology	29072	SETD2	OMIM:620155
HP:0001273	Abnormal corpus callosum morphology	55780	ERMARD	ORPHA:75857
HP:0001273	Abnormal corpus callosum morphology	10978	CLP1	OMIM:615803
HP:0001273	Abnormal corpus callosum morphology	271	AMPD2	OMIM:615809
HP:0001273	Abnormal corpus callosum morphology	271	AMPD2	OMIM:615686
HP:0001273	Abnormal corpus callosum morphology	25839	COG4	ORPHA:263501
HP:0001273	Abnormal corpus callosum morphology	25839	COG4	OMIM:613489
HP:0001273	Abnormal corpus callosum morphology	5119	CHMP1A	OMIM:614961
HP:0001273	Abnormal corpus callosum morphology	55157	DARS2	ORPHA:137898
HP:0001273	Abnormal corpus callosum morphology	10000	AKT3	OMIM:615937
HP:0001273	Abnormal corpus callosum morphology	501	ALDH7A1	ORPHA:3006
HP:0001273	Abnormal corpus callosum morphology	11212	PLPBP	ORPHA:3006
HP:0001273	Abnormal corpus callosum morphology	57531	HACE1	ORPHA:464282
HP:0001273	Abnormal corpus callosum morphology	57531	HACE1	OMIM:616756
HP:0001273	Abnormal corpus callosum morphology	23400	ATP13A2	ORPHA:513436
HP:0001273	Abnormal corpus callosum morphology	80856	LNPK	OMIM:618090
HP:0001273	Abnormal corpus callosum morphology	26278	SACS	ORPHA:98
HP:0001273	Abnormal corpus callosum morphology	23265	EXOC7	OMIM:619072
HP:0001273	Abnormal corpus callosum morphology	1798	DPAGT1	ORPHA:86309
HP:0001273	Abnormal corpus callosum morphology	7025	NR2F1	ORPHA:401777
HP:0001273	Abnormal corpus callosum morphology	1267	CNP	OMIM:619071
HP:0001273	Abnormal corpus callosum morphology	149371	EXOC8	OMIM:619076
HP:0001273	Abnormal corpus callosum morphology	56006	SMG9	OMIM:616920
HP:0001273	Abnormal corpus callosum morphology	27286	SRPX2	ORPHA:163721
HP:0001273	Abnormal corpus callosum morphology	285175	UNC80	OMIM:616801
HP:0001273	Abnormal corpus callosum morphology	285175	UNC80	ORPHA:371364
HP:0001273	Abnormal corpus callosum morphology	79753	SNIP1	OMIM:614501
HP:0001273	Abnormal corpus callosum morphology	54499	TMCO1	OMIM:213980
HP:0001273	Abnormal corpus callosum morphology	54499	TMCO1	ORPHA:1394
HP:0001273	Abnormal corpus callosum morphology	23503	ZFYVE26	OMIM:270700
HP:0001273	Abnormal corpus callosum morphology	23503	ZFYVE26	ORPHA:100996
HP:0001273	Abnormal corpus callosum morphology	58508	KMT2C	ORPHA:261652
HP:0001273	Abnormal corpus callosum morphology	4094	MAF	ORPHA:1272
HP:0001273	Abnormal corpus callosum morphology	5591	PRKDC	OMIM:615966
HP:0001273	Abnormal corpus callosum morphology	51244	CCDC174	OMIM:616816
HP:0001273	Abnormal corpus callosum morphology	51322	WAC	ORPHA:284169
HP:0001273	Abnormal corpus callosum morphology	51322	WAC	OMIM:616708
HP:0001273	Abnormal corpus callosum morphology	4677	NARS1	OMIM:619091
HP:0001273	Abnormal corpus callosum morphology	55275	VPS53	OMIM:615851
HP:0001273	Abnormal corpus callosum morphology	200403	VWA3B	OMIM:616948
HP:0001273	Abnormal corpus callosum morphology	85021	REPS1	OMIM:617916
HP:0001273	Abnormal corpus callosum morphology	85440	DOCK7	OMIM:615859
HP:0001273	Abnormal corpus callosum morphology	85440	DOCK7	ORPHA:411986
HP:0001273	Abnormal corpus callosum morphology	7407	VARS1	OMIM:617802
HP:0001273	Abnormal corpus callosum morphology	57165	GJC2	OMIM:613206
HP:0001273	Abnormal corpus callosum morphology	10535	RNASEH2A	ORPHA:51
HP:0001273	Abnormal corpus callosum morphology	25939	SAMHD1	ORPHA:51
HP:0001273	Abnormal corpus callosum morphology	79621	RNASEH2B	ORPHA:51
HP:0001273	Abnormal corpus callosum morphology	103	ADAR	ORPHA:51
HP:0001273	Abnormal corpus callosum morphology	11277	TREX1	ORPHA:51
HP:0001273	Abnormal corpus callosum morphology	100147744	RNU7-1	ORPHA:51
HP:0001273	Abnormal corpus callosum morphology	134353	LSM11	ORPHA:51
HP:0001273	Abnormal corpus callosum morphology	64135	IFIH1	ORPHA:51
HP:0001273	Abnormal corpus callosum morphology	5080	PAX6	OMIM:106210
HP:0001273	Abnormal corpus callosum morphology	7490	WT1	OMIM:106210
HP:0001273	Abnormal corpus callosum morphology	10075	HUWE1	OMIM:309590
HP:0001273	Abnormal corpus callosum morphology	91949	COG7	OMIM:608779
HP:0001273	Abnormal corpus callosum morphology	124997	WDR81	OMIM:610185
HP:0001273	Abnormal corpus callosum morphology	11020	IFT27	OMIM:615996
HP:0001273	Abnormal corpus callosum morphology	23028	KDM1A	OMIM:616728
HP:0001273	Abnormal corpus callosum morphology	23028	KDM1A	ORPHA:477993
HP:0001273	Abnormal corpus callosum morphology	5859	QARS1	OMIM:615760
HP:0001273	Abnormal corpus callosum morphology	80347	COASY	OMIM:615643
HP:0001273	Abnormal corpus callosum morphology	23291	FBXW11	OMIM:618914
HP:0001273	Abnormal corpus callosum morphology	7280	TUBB2A	OMIM:615763
HP:0001273	Abnormal corpus callosum morphology	998	CDC42	OMIM:616737
HP:0001273	Abnormal corpus callosum morphology	998	CDC42	ORPHA:487796
HP:0001273	Abnormal corpus callosum morphology	50	ACO2	OMIM:614559
HP:0001273	Abnormal corpus callosum morphology	10982	MAPRE2	OMIM:616734
HP:0001273	Abnormal corpus callosum morphology	51218	GLRX5	OMIM:616859
HP:0001273	Abnormal corpus callosum morphology	5053	PAH	ORPHA:2209
HP:0001273	Abnormal corpus callosum morphology	4131	MAP1B	OMIM:618918
HP:0001273	Abnormal corpus callosum morphology	5925	RB1	ORPHA:1587
HP:0001273	Abnormal corpus callosum morphology	23511	NUP188	OMIM:618804
HP:0001273	Abnormal corpus callosum morphology	6709	SPTAN1	OMIM:613477
HP:0001273	Abnormal corpus callosum morphology	1778	DYNC1H1	OMIM:614563
HP:0001273	Abnormal corpus callosum morphology	2058	EPRS1	OMIM:617951
HP:0001273	Abnormal corpus callosum morphology	27315	PGAP2	OMIM:614207
HP:0001273	Abnormal corpus callosum morphology	57511	COG6	OMIM:614576
HP:0001273	Abnormal corpus callosum morphology	54664	TMEM106B	OMIM:617964
HP:0001273	Abnormal corpus callosum morphology	9419	CRIPT	OMIM:615789
HP:0001273	Abnormal corpus callosum morphology	55644	OSGEP	OMIM:617729
HP:0001273	Abnormal corpus callosum morphology	7874	USP7	ORPHA:500055
HP:0001273	Abnormal corpus callosum morphology	340075	ARSI	ORPHA:401815
HP:0001273	Abnormal corpus callosum morphology	4337	MOCS1	OMIM:252150
HP:0001273	Abnormal corpus callosum morphology	29957	SLC25A24	OMIM:612289
HP:0001273	Abnormal corpus callosum morphology	56270	WDR45B	OMIM:617977
HP:0001273	Abnormal corpus callosum morphology	259232	NALCN	ORPHA:371364
HP:0001273	Abnormal corpus callosum morphology	122553	TRAPPC6B	OMIM:617862
HP:0001273	Abnormal corpus callosum morphology	51124	IER3IP1	OMIM:614231
HP:0001273	Abnormal corpus callosum morphology	2893	GRIA4	OMIM:617864
HP:0001273	Abnormal corpus callosum morphology	55704	CCDC88A	OMIM:617507
HP:0001273	Abnormal corpus callosum morphology	54676	GTPBP2	OMIM:617988
HP:0001273	Abnormal corpus callosum morphology	11154	AP4S1	ORPHA:280763
HP:0001273	Abnormal corpus callosum morphology	23431	AP4E1	ORPHA:280763
HP:0001273	Abnormal corpus callosum morphology	5879	RAC1	OMIM:617751
HP:0001273	Abnormal corpus callosum morphology	5879	RAC1	ORPHA:500159
HP:0001273	Abnormal corpus callosum morphology	5455	POU3F3	OMIM:618604
HP:0001273	Abnormal corpus callosum morphology	738	VPS51	OMIM:618606
HP:0001273	Abnormal corpus callosum morphology	5116	PCNT	ORPHA:2637
HP:0001273	Abnormal corpus callosum morphology	2806	GOT2	OMIM:618721
HP:0001273	Abnormal corpus callosum morphology	51663	ZFR	ORPHA:401840
HP:0001273	Abnormal corpus callosum morphology	1468	SLC25A10	OMIM:618972
HP:0001273	Abnormal corpus callosum morphology	1968	EIF2S3	OMIM:300148
HP:0001273	Abnormal corpus callosum morphology	5307	PITX1	OMIM:119800
HP:0001273	Abnormal corpus callosum morphology	51075	TMX2	OMIM:618730
HP:0001273	Abnormal corpus callosum morphology	8884	SLC5A6	OMIM:618973
HP:0001273	Abnormal corpus callosum morphology	7305	TYROBP	OMIM:221770
HP:0001273	Abnormal corpus callosum morphology	55331	ACER3	OMIM:617762
HP:0001273	Abnormal corpus callosum morphology	7543	ZFX	OMIM:301118
HP:0001273	Abnormal corpus callosum morphology	10844	TUBGCP2	OMIM:618737
HP:0001273	Abnormal corpus callosum morphology	4858	NOVA2	OMIM:618859
HP:0001273	Abnormal corpus callosum morphology	84148	KAT8	OMIM:618974
HP:0001273	Abnormal corpus callosum morphology	55753	OGDHL	OMIM:619701
HP:0001273	Abnormal corpus callosum morphology	257	ALX3	OMIM:136760
HP:0001273	Abnormal corpus callosum morphology	257	ALX3	ORPHA:391474
HP:0001273	Abnormal corpus callosum morphology	8092	ALX1	ORPHA:306542
HP:0001273	Abnormal corpus callosum morphology	4841	NONO	ORPHA:466791
HP:0001273	Abnormal corpus callosum morphology	4841	NONO	OMIM:300967
HP:0001273	Abnormal corpus callosum morphology	9791	PTDSS1	OMIM:151050
HP:0001273	Abnormal corpus callosum morphology	29899	GPSM2	OMIM:604213
HP:0001273	Abnormal corpus callosum morphology	58499	ZNF462	ORPHA:502430
HP:0001273	Abnormal corpus callosum morphology	4001	LMNB1	OMIM:619179
HP:0001273	Abnormal corpus callosum morphology	6651	SON	ORPHA:500150
HP:0001273	Abnormal corpus callosum morphology	6651	SON	OMIM:617140
HP:0001273	Abnormal corpus callosum morphology	9692	PRORP	OMIM:619737
HP:0001273	Abnormal corpus callosum morphology	4659	PPP1R12A	OMIM:618820
HP:0001273	Abnormal corpus callosum morphology	51807	TUBA8	ORPHA:250972
HP:0001273	Abnormal corpus callosum morphology	93627	TBCK	OMIM:616900
HP:0001273	Abnormal corpus callosum morphology	5361	PLXNA1	OMIM:619955
HP:0001273	Abnormal corpus callosum morphology	374969	SVBP	OMIM:618569
HP:0001273	Abnormal corpus callosum morphology	11267	SNF8	OMIM:620784
HP:0001273	Abnormal corpus callosum morphology	11267	SNF8	OMIM:620783
HP:0001273	Abnormal corpus callosum morphology	84081	NSRP1	OMIM:620001
HP:0001273	Abnormal corpus callosum morphology	124454	EARS2	OMIM:614924
HP:0001273	Abnormal corpus callosum morphology	83480	PUS3	ORPHA:488627
HP:0001273	Abnormal corpus callosum morphology	5286	PIK3C2A	ORPHA:557003
HP:0001273	Abnormal corpus callosum morphology	91647	ATPAF2	OMIM:604273
HP:0001273	Abnormal corpus callosum morphology	57192	MCOLN1	OMIM:252650
HP:0001273	Abnormal corpus callosum morphology	79228	THOC6	ORPHA:363444
HP:0001273	Abnormal corpus callosum morphology	23258	DENND5A	OMIM:617281
HP:0001273	Abnormal corpus callosum morphology	6812	STXBP1	ORPHA:599373
HP:0001273	Abnormal corpus callosum morphology	23309	SIN3B	ORPHA:500166
HP:0001273	Abnormal corpus callosum morphology	25942	SIN3A	ORPHA:500166
HP:0001273	Abnormal corpus callosum morphology	25942	SIN3A	OMIM:613406
HP:0001273	Abnormal corpus callosum morphology	10524	KAT5	OMIM:619103
HP:0001273	Abnormal corpus callosum morphology	205327	C2orf69	OMIM:619423
HP:0001273	Abnormal corpus callosum morphology	22978	NT5C2	OMIM:613162
HP:0001273	Abnormal corpus callosum morphology	5283	PIGH	OMIM:618010
HP:0001273	Abnormal corpus callosum morphology	23287	AGTPBP1	OMIM:618276
HP:0001273	Abnormal corpus callosum morphology	3313	HSPA9	OMIM:616854
HP:0001273	Abnormal corpus callosum morphology	283989	TSEN54	ORPHA:2524
HP:0001273	Abnormal corpus callosum morphology	116461	TSEN15	ORPHA:2524
HP:0001273	Abnormal corpus callosum morphology	79042	TSEN34	ORPHA:2524
HP:0001273	Abnormal corpus callosum morphology	80746	TSEN2	ORPHA:2524
HP:0001273	Abnormal corpus callosum morphology	51091	SEPSECS	ORPHA:2524
HP:0001273	Abnormal corpus callosum morphology	7453	WARS1	OMIM:620317
HP:0001273	Abnormal corpus callosum morphology	4953	ODC1	ORPHA:544488
HP:0001273	Abnormal corpus callosum morphology	25914	RTTN	OMIM:614833
HP:0001273	Abnormal corpus callosum morphology	55210	ATAD3A	OMIM:618810
HP:0001273	Abnormal corpus callosum morphology	1642	DDB1	OMIM:619426
HP:0001273	Abnormal corpus callosum morphology	79633	FAT4	ORPHA:314679
HP:0001273	Abnormal corpus callosum morphology	8642	DCHS1	ORPHA:314679
HP:0001273	Abnormal corpus callosum morphology	4713	NDUFB7	OMIM:620135
HP:0001273	Abnormal corpus callosum morphology	5296	PIK3R2	OMIM:603387
HP:0001273	Abnormal corpus callosum morphology	8925	HERC1	ORPHA:457359
HP:0001273	Abnormal corpus callosum morphology	8925	HERC1	OMIM:617011
HP:0001273	Abnormal corpus callosum morphology	51256	TBC1D7	OMIM:248000
HP:0001273	Abnormal corpus callosum morphology	22983	MAST1	OMIM:618273
HP:0001273	Abnormal corpus callosum morphology	4849	CNOT3	OMIM:618672
HP:0001273	Abnormal corpus callosum morphology	51780	KDM3B	OMIM:618846
HP:0001273	Abnormal corpus callosum morphology	7283	TUBG1	OMIM:615412
HP:0001273	Abnormal corpus callosum morphology	26047	CNTNAP2	OMIM:610042
HP:0001273	Abnormal corpus callosum morphology	815	CAMK2A	OMIM:617798
HP:0001273	Abnormal corpus callosum morphology	57282	SLC4A10	OMIM:620746
HP:0001273	Abnormal corpus callosum morphology	894	CCND2	OMIM:615938
HP:0001273	Abnormal corpus callosum morphology	54496	PRMT7	ORPHA:464288
HP:0001273	Abnormal corpus callosum morphology	113246	C12orf57	OMIM:218340
HP:0001273	Abnormal corpus callosum morphology	157680	VPS13B	OMIM:216550
HP:0001273	Abnormal corpus callosum morphology	9851	KIAA0753	ORPHA:475
HP:0001273	Abnormal corpus callosum morphology	9851	KIAA0753	ORPHA:2754
HP:0001273	Abnormal corpus callosum morphology	5147	PDE6D	ORPHA:475
HP:0001273	Abnormal corpus callosum morphology	5147	PDE6D	ORPHA:2754
HP:0001273	Abnormal corpus callosum morphology	79600	TCTN1	ORPHA:475
HP:0001273	Abnormal corpus callosum morphology	79600	TCTN1	ORPHA:564
HP:0001273	Abnormal corpus callosum morphology	8481	OFD1	ORPHA:475
HP:0001273	Abnormal corpus callosum morphology	8481	OFD1	ORPHA:2754
HP:0001273	Abnormal corpus callosum morphology	51684	SUFU	ORPHA:475
HP:0001273	Abnormal corpus callosum morphology	153241	CEP120	ORPHA:475
HP:0001273	Abnormal corpus callosum morphology	65250	CPLANE1	ORPHA:475
HP:0001273	Abnormal corpus callosum morphology	65250	CPLANE1	ORPHA:2754
HP:0001273	Abnormal corpus callosum morphology	91147	TMEM67	ORPHA:475
HP:0001273	Abnormal corpus callosum morphology	91147	TMEM67	ORPHA:564
HP:0001273	Abnormal corpus callosum morphology	91147	TMEM67	ORPHA:1454
HP:0001273	Abnormal corpus callosum morphology	200894	ARL13B	ORPHA:475
HP:0001273	Abnormal corpus callosum morphology	9731	CEP104	ORPHA:475
HP:0001273	Abnormal corpus callosum morphology	219844	HYLS1	ORPHA:475
HP:0001273	Abnormal corpus callosum morphology	23247	KATNIP	ORPHA:475
HP:0001273	Abnormal corpus callosum morphology	219854	TMEM218	ORPHA:475
HP:0001273	Abnormal corpus callosum morphology	54903	MKS1	ORPHA:475
HP:0001273	Abnormal corpus callosum morphology	54903	MKS1	ORPHA:564
HP:0001273	Abnormal corpus callosum morphology	95681	CEP41	ORPHA:475
HP:0001273	Abnormal corpus callosum morphology	56623	INPP5E	ORPHA:475
HP:0001273	Abnormal corpus callosum morphology	56623	INPP5E	ORPHA:1454
HP:0001273	Abnormal corpus callosum morphology	26123	TCTN3	ORPHA:475
HP:0001273	Abnormal corpus callosum morphology	26123	TCTN3	ORPHA:2754
HP:0001273	Abnormal corpus callosum morphology	26123	TCTN3	ORPHA:564
HP:0001273	Abnormal corpus callosum morphology	79867	TCTN2	ORPHA:475
HP:0001273	Abnormal corpus callosum morphology	79867	TCTN2	ORPHA:564
HP:0001273	Abnormal corpus callosum morphology	80776	B9D2	ORPHA:475
HP:0001273	Abnormal corpus callosum morphology	80776	B9D2	ORPHA:564
HP:0001273	Abnormal corpus callosum morphology	10464	PIBF1	ORPHA:475
HP:0001273	Abnormal corpus callosum morphology	80210	ARMC9	ORPHA:475
HP:0001273	Abnormal corpus callosum morphology	23116	TOGARAM1	ORPHA:475
HP:0001273	Abnormal corpus callosum morphology	25776	CBY1	ORPHA:475
HP:0001273	Abnormal corpus callosum morphology	27077	B9D1	ORPHA:475
HP:0001273	Abnormal corpus callosum morphology	27077	B9D1	ORPHA:564
HP:0001273	Abnormal corpus callosum morphology	403	ARL3	ORPHA:475
HP:0001273	Abnormal corpus callosum morphology	80173	IFT74	ORPHA:475
HP:0001273	Abnormal corpus callosum morphology	65062	TMEM237	ORPHA:475
HP:0001273	Abnormal corpus callosum morphology	65062	TMEM237	ORPHA:2318
HP:0001273	Abnormal corpus callosum morphology	65062	TMEM237	ORPHA:564
HP:0001273	Abnormal corpus callosum morphology	1718	DHCR24	OMIM:602398
HP:0001273	Abnormal corpus callosum morphology	3981	LIG4	ORPHA:235
HP:0001273	Abnormal corpus callosum morphology	54888	NSUN2	ORPHA:235
HP:0001273	Abnormal corpus callosum morphology	2218	FKTN	ORPHA:272
HP:0001273	Abnormal corpus callosum morphology	27238	GPKOW	ORPHA:2570
HP:0001273	Abnormal corpus callosum morphology	6197	RPS6KA3	ORPHA:192
HP:0001273	Abnormal corpus callosum morphology	3265	HRAS	ORPHA:2612
HP:0001273	Abnormal corpus callosum morphology	3845	KRAS	ORPHA:2612
HP:0001273	Abnormal corpus callosum morphology	4893	NRAS	ORPHA:2612
HP:0001273	Abnormal corpus callosum morphology	64327	LMBR1	ORPHA:2378
HP:0001273	Abnormal corpus callosum morphology	673	BRAF	OMIM:115150
HP:0001273	Abnormal corpus callosum morphology	95	ACY1	ORPHA:137754
HP:0001273	Abnormal corpus callosum morphology	145173	B3GLCT	ORPHA:709
HP:0001273	Abnormal corpus callosum morphology	55624	POMGNT1	OMIM:253280
HP:0001273	Abnormal corpus callosum morphology	6925	TCF4	ORPHA:2896
HP:0001273	Abnormal corpus callosum morphology	64324	NSD1	ORPHA:821
HP:0001273	Abnormal corpus callosum morphology	10297	APC2	ORPHA:821
HP:0001273	Abnormal corpus callosum morphology	154881	KCTD7	ORPHA:263516
HP:0001273	Abnormal corpus callosum morphology	4036	LRP2	OMIM:222448
HP:0001273	Abnormal corpus callosum morphology	4036	LRP2	ORPHA:2143
HP:0001273	Abnormal corpus callosum morphology	374654	KIF7	ORPHA:36
HP:0001273	Abnormal corpus callosum morphology	374654	KIF7	OMIM:200990
HP:0001273	Abnormal corpus callosum morphology	374654	KIF7	ORPHA:2754
HP:0001273	Abnormal corpus callosum morphology	51633	OTUD6B	ORPHA:505237
HP:0001273	Abnormal corpus callosum morphology	4774	NFIA	ORPHA:401986
HP:0001273	Abnormal corpus callosum morphology	26275	HIBCH	ORPHA:88639
HP:0001273	Abnormal corpus callosum morphology	54968	TMEM70	ORPHA:1194
HP:0001273	Abnormal corpus callosum morphology	51715	RAB23	OMIM:201000
HP:0001273	Abnormal corpus callosum morphology	84162	BLTP1	OMIM:617822
HP:0001273	Abnormal corpus callosum morphology	2314	FLII	ORPHA:819
HP:0001273	Abnormal corpus callosum morphology	23096	IQSEC2	ORPHA:819
HP:0001273	Abnormal corpus callosum morphology	10743	RAI1	ORPHA:819
HP:0001273	Abnormal corpus callosum morphology	10522	DEAF1	ORPHA:819
HP:0001273	Abnormal corpus callosum morphology	1717	DHCR7	ORPHA:818
HP:0001273	Abnormal corpus callosum morphology	10472	ZBTB18	ORPHA:36367
HP:0001273	Abnormal corpus callosum morphology	51114	ZDHHC9	ORPHA:776
HP:0001273	Abnormal corpus callosum morphology	65109	UPF3B	ORPHA:776
HP:0001273	Abnormal corpus callosum morphology	9968	MED12	ORPHA:776
HP:0001273	Abnormal corpus callosum morphology	9968	MED12	ORPHA:93932
HP:0001273	Abnormal corpus callosum morphology	5189	PEX1	OMIM:214100
HP:0001273	Abnormal corpus callosum morphology	55691	FRMD4A	OMIM:616819
HP:0001273	Abnormal corpus callosum morphology	10479	SLC9A6	ORPHA:85278
HP:0001273	Abnormal corpus callosum morphology	5290	PIK3CA	ORPHA:140944
HP:0001273	Abnormal corpus callosum morphology	10225	CD96	ORPHA:1308
HP:0001273	Abnormal corpus callosum morphology	100151683	RNU4ATAC	ORPHA:1824
HP:0001273	Abnormal corpus callosum morphology	79583	TMEM231	ORPHA:2318
HP:0001273	Abnormal corpus callosum morphology	79583	TMEM231	ORPHA:2754
HP:0001273	Abnormal corpus callosum morphology	79583	TMEM231	ORPHA:564
HP:0001273	Abnormal corpus callosum morphology	51524	TMEM138	ORPHA:2318
HP:0001273	Abnormal corpus callosum morphology	23090	ZNF423	ORPHA:2318
HP:0001273	Abnormal corpus callosum morphology	80184	CEP290	ORPHA:2318
HP:0001273	Abnormal corpus callosum morphology	80184	CEP290	ORPHA:564
HP:0001273	Abnormal corpus callosum morphology	57545	CC2D2A	ORPHA:2318
HP:0001273	Abnormal corpus callosum morphology	57545	CC2D2A	ORPHA:564
HP:0001273	Abnormal corpus callosum morphology	57545	CC2D2A	ORPHA:1454
HP:0001273	Abnormal corpus callosum morphology	22930	RAB3GAP1	ORPHA:2510
HP:0001273	Abnormal corpus callosum morphology	25782	RAB3GAP2	ORPHA:2510
HP:0001273	Abnormal corpus callosum morphology	22931	RAB18	ORPHA:2510
HP:0001273	Abnormal corpus callosum morphology	128637	TBC1D20	ORPHA:2510
HP:0001273	Abnormal corpus callosum morphology	10210	TOPORS	ORPHA:2754
HP:0001273	Abnormal corpus callosum morphology	317662	FAM149B1	ORPHA:2754
HP:0001273	Abnormal corpus callosum morphology	8260	NAA10	ORPHA:568
HP:0001273	Abnormal corpus callosum morphology	54880	BCOR	ORPHA:568
HP:0001273	Abnormal corpus callosum morphology	2260	FGFR1	ORPHA:2117
HP:0001273	Abnormal corpus callosum morphology	84314	TMEM107	ORPHA:564
HP:0001273	Abnormal corpus callosum morphology	57096	RPGRIP1	ORPHA:564
HP:0001273	Abnormal corpus callosum morphology	79770	TXNDC15	ORPHA:564
HP:0001273	Abnormal corpus callosum morphology	652	BMP4	OMIM:607932
HP:0001273	Abnormal corpus callosum morphology	9184	BUB3	ORPHA:1052
HP:0001273	Abnormal corpus callosum morphology	699	BUB1	ORPHA:1052
HP:0001273	Abnormal corpus callosum morphology	9702	CEP57	ORPHA:1052
HP:0001273	Abnormal corpus callosum morphology	9319	TRIP13	ORPHA:1052
HP:0001273	Abnormal corpus callosum morphology	701	BUB1B	ORPHA:1052
HP:0001273	Abnormal corpus callosum morphology	29980	DONSON	OMIM:251230
HP:0001273	Abnormal corpus callosum morphology	10059	DNM1L	ORPHA:98673
HP:0001273	Abnormal corpus callosum morphology	4976	OPA1	ORPHA:98673
HP:0001273	Abnormal corpus callosum morphology	4702	NDUFA8	OMIM:619272
HP:0001273	Abnormal corpus callosum morphology	1436	CSF1R	OMIM:221820
HP:0001273	Abnormal corpus callosum morphology	4099	MAG	OMIM:616680
HP:0001273	Abnormal corpus callosum morphology	10134	BCAP31	ORPHA:369939
HP:0001273	Abnormal corpus callosum morphology	5832	ALDH18A1	OMIM:616586
HP:0001273	Abnormal corpus callosum morphology	5832	ALDH18A1	ORPHA:447753
HP:0001273	Abnormal corpus callosum morphology	5832	ALDH18A1	OMIM:601162
HP:0001273	Abnormal corpus callosum morphology	5832	ALDH18A1	ORPHA:447760
HP:0001273	Abnormal corpus callosum morphology	4125	MAN2B1	OMIM:248500
HP:0001273	Abnormal corpus callosum morphology	777	CACNA1E	OMIM:618285
HP:0001273	Abnormal corpus callosum morphology	64207	IRF2BPL	OMIM:618088
HP:0001273	Abnormal corpus callosum morphology	51728	POLR3K	OMIM:619310
HP:0001273	Abnormal corpus callosum morphology	27247	NFU1	OMIM:620938
HP:0001273	Abnormal corpus callosum morphology	10273	STUB1	ORPHA:412057
HP:0001273	Abnormal corpus callosum morphology	9255	AIMP1	OMIM:260600
HP:0001273	Abnormal corpus callosum morphology	51692	CPSF3	OMIM:619876
HP:0001273	Abnormal corpus callosum morphology	3295	HSD17B4	OMIM:261515
HP:0001273	Abnormal corpus callosum morphology	4191	MDH2	OMIM:617339
HP:0001273	Abnormal corpus callosum morphology	27072	VPS41	OMIM:619389
HP:0001273	Abnormal corpus callosum morphology	91875	TTC5	OMIM:619244
HP:0001273	Abnormal corpus callosum morphology	23065	EMC1	OMIM:616875
HP:0001273	Abnormal corpus callosum morphology	23065	EMC1	ORPHA:480898
HP:0001273	Abnormal corpus callosum morphology	51761	ATP8A2	OMIM:615268
HP:0001273	Abnormal corpus callosum morphology	9409	PEX16	OMIM:614877
HP:0001273	Abnormal corpus callosum morphology	57704	GBA2	ORPHA:320391
HP:0001273	Abnormal corpus callosum morphology	8890	EIF2B4	OMIM:620314
HP:0001273	Abnormal corpus callosum morphology	79944	L2HGDH	OMIM:236792
HP:0001273	Abnormal corpus callosum morphology	27183	VPS4A	OMIM:619273
HP:0001273	Abnormal corpus callosum morphology	55703	POLR3B	OMIM:614381
HP:0001273	Abnormal corpus callosum morphology	26235	FBXL4	OMIM:615471
HP:0001273	Abnormal corpus callosum morphology	9759	HDAC4	OMIM:619797
HP:0001273	Abnormal corpus callosum morphology	343450	KCNT2	OMIM:617771
HP:0001273	Abnormal corpus callosum morphology	2495	FTH1	OMIM:620669
HP:0001273	Abnormal corpus callosum morphology	2972	BRF1	OMIM:616202
HP:0001273	Abnormal corpus callosum morphology	83548	COG3	OMIM:620546
HP:0001273	Abnormal corpus callosum morphology	6091	ROBO1	OMIM:620305
HP:0001273	Abnormal corpus callosum morphology	4897	NRCAM	OMIM:619833
HP:0001273	Abnormal corpus callosum morphology	2653	GCSH	OMIM:620423
HP:0001273	Abnormal corpus callosum morphology	347734	SLC35B2	OMIM:620269
HP:0001273	Abnormal corpus callosum morphology	3008	H1-4	OMIM:617537
HP:0001273	Abnormal corpus callosum morphology	55733	HHAT	OMIM:600092
HP:0001273	Abnormal corpus callosum morphology	1119	CHKA	OMIM:620023
HP:0001273	Abnormal corpus callosum morphology	9690	UBE3C	OMIM:620270
HP:0001273	Abnormal corpus callosum morphology	1729	DIAPH1	ORPHA:477814
HP:0001273	Abnormal corpus callosum morphology	3020	H3-3A	OMIM:619720
HP:0001273	Abnormal corpus callosum morphology	55182	RNF220	OMIM:619688
HP:0001273	Abnormal corpus callosum morphology	9442	MED27	OMIM:619286
HP:0001273	Abnormal corpus callosum morphology	1855	DVL1	OMIM:616331
HP:0001273	Abnormal corpus callosum morphology	473	RERE	OMIM:616975
HP:0001273	Abnormal corpus callosum morphology	166378	AFG2A	OMIM:616577
HP:0001273	Abnormal corpus callosum morphology	318	NUDT2	OMIM:619844
HP:0001273	Abnormal corpus callosum morphology	3097	HIVEP2	OMIM:616977
HP:0001273	Abnormal corpus callosum morphology	84520	GON7	OMIM:619603
HP:0001273	Abnormal corpus callosum morphology	25885	POLR1A	OMIM:620675
HP:0001273	Abnormal corpus callosum morphology	56246	MRAP	OMIM:607398
HP:0001273	Abnormal corpus callosum morphology	79158	GNPTAB	OMIM:252500
HP:0001273	Abnormal corpus callosum morphology	23499	MACF1	ORPHA:572013
HP:0001273	Abnormal corpus callosum morphology	387119	CEP85L	ORPHA:572013
HP:0001273	Abnormal corpus callosum morphology	161725	OTUD7A	OMIM:620790
HP:0001273	Abnormal corpus callosum morphology	51324	SPG21	OMIM:248900
HP:0001273	Abnormal corpus callosum morphology	6595	SMARCA2	OMIM:619293
HP:0001273	Abnormal corpus callosum morphology	5934	RBL2	OMIM:619690
HP:0001273	Abnormal corpus callosum morphology	23250	ATP11A	OMIM:619851
HP:0001273	Abnormal corpus callosum morphology	203068	TUBB	OMIM:615771
HP:0001273	Abnormal corpus callosum morphology	9698	PUM1	OMIM:620719
HP:0001273	Abnormal corpus callosum morphology	6601	SMARCC2	OMIM:618362
HP:0001273	Abnormal corpus callosum morphology	92255	LMBRD2	OMIM:619694
HP:0001273	Abnormal corpus callosum morphology	23522	KAT6B	OMIM:606170
HP:0001273	Abnormal corpus callosum morphology	11232	POLG2	OMIM:618528
HP:0001273	Abnormal corpus callosum morphology	3796	KIF2A	OMIM:615411
HP:0001273	Abnormal corpus callosum morphology	11080	DNAJB4	OMIM:620326
HP:0001273	Abnormal corpus callosum morphology	7920	ABHD16A	OMIM:619735
HP:0001273	Abnormal corpus callosum morphology	819	CAMLG	OMIM:620201
HP:0001273	Abnormal corpus callosum morphology	51608	GET4	OMIM:620200
HP:0001273	Abnormal corpus callosum morphology	80208	SPG11	OMIM:602099
HP:0001273	Abnormal corpus callosum morphology	54806	AHI1	OMIM:608629
HP:0001273	Abnormal corpus callosum morphology	2898	GRIK2	OMIM:619580
HP:0001273	Abnormal corpus callosum morphology	84504	NKX6-2	OMIM:617560
HP:0001273	Abnormal corpus callosum morphology	26175	LYSET	OMIM:619345
HP:0001273	Abnormal corpus callosum morphology	283987	HID1	OMIM:619983
HP:0001273	Abnormal corpus callosum morphology	5442	POLRMT	OMIM:619743
HP:0001273	Abnormal corpus callosum morphology	127833	SYT2	OMIM:619461
HP:0001273	Abnormal corpus callosum morphology	2720	GLB1	OMIM:253010
HP:0001273	Abnormal corpus callosum morphology	4338	MOCS2	OMIM:252160
HP:0001273	Abnormal corpus callosum morphology	9907	AP5Z1	OMIM:613647
HP:0001273	Abnormal corpus callosum morphology	1974	EIF4A2	OMIM:620455
HP:0001273	Abnormal corpus callosum morphology	26834	RNU4-2	OMIM:620851
HP:0001273	Abnormal corpus callosum morphology	79152	FA2H	OMIM:612319
HP:0001273	Abnormal corpus callosum morphology	79736	TEFM	OMIM:620451
HP:0001273	Abnormal corpus callosum morphology	7074	TIAM1	OMIM:619908
HP:0001273	Abnormal corpus callosum morphology	57003	CCDC47	OMIM:618268
HP:0001273	Abnormal corpus callosum morphology	1182	CLCN3	OMIM:619512
HP:0001273	Abnormal corpus callosum morphology	1182	CLCN3	OMIM:619517
HP:0001273	Abnormal corpus callosum morphology	7862	BRPF1	OMIM:617333
HP:0001273	Abnormal corpus callosum morphology	23126	POGZ	OMIM:616364
HP:0001273	Abnormal corpus callosum morphology	8558	CDK10	OMIM:617694
HP:0001273	Abnormal corpus callosum morphology	1859	DYRK1A	OMIM:614104
HP:0001273	Abnormal corpus callosum morphology	9681	DEPDC5	OMIM:620504
HP:0001273	Abnormal corpus callosum morphology	23040	MYT1L	OMIM:616521
HP:0001273	Abnormal corpus callosum morphology	3839	KPNA3	OMIM:620106
HP:0001273	Abnormal corpus callosum morphology	80232	WDR26	OMIM:617616
HP:0001273	Abnormal corpus callosum morphology	11340	EXOSC8	ORPHA:2254
HP:0001273	Abnormal corpus callosum morphology	5393	EXOSC9	ORPHA:2254
HP:0001273	Abnormal corpus callosum morphology	51010	EXOSC3	ORPHA:2254
HP:0001273	Abnormal corpus callosum morphology	7443	VRK1	ORPHA:2254
HP:0001273	Abnormal corpus callosum morphology	91137	SLC25A46	ORPHA:2254
HP:0001273	Abnormal corpus callosum morphology	116115	ZNF526	OMIM:619877
HP:0001273	Abnormal corpus callosum morphology	4329	ALDH6A1	OMIM:614105
HP:0001273	Abnormal corpus callosum morphology	90624	LYRM7	OMIM:615838
HP:0001273	Abnormal corpus callosum morphology	93210	PGAP3	OMIM:615716
HP:0001273	Abnormal corpus callosum morphology	83475	DOHH	OMIM:620066
HP:0001273	Abnormal corpus callosum morphology	11198	SUPT16H	OMIM:619480
HP:0001273	Abnormal corpus callosum morphology	5605	MAP2K2	OMIM:615280
HP:0001273	Abnormal corpus callosum morphology	54828	BCAS3	OMIM:619641
HP:0001273	Abnormal corpus callosum morphology	374354	NHLRC2	OMIM:618278
HP:0001273	Abnormal corpus callosum morphology	9276	COPB2	OMIM:619884
HP:0001273	Abnormal corpus callosum morphology	2316	FLNA	OMIM:300049
HP:0001273	Abnormal corpus callosum morphology	23031	MAST3	OMIM:620115
HP:0001273	Abnormal corpus callosum morphology	6509	SLC1A4	OMIM:616657
HP:0001273	Abnormal corpus callosum morphology	9562	MINPP1	OMIM:619527
HP:0001273	Abnormal corpus callosum morphology	10430	TMEM147	OMIM:620075
HP:0001273	Abnormal corpus callosum morphology	7143	TNR	OMIM:619653
HP:0001273	Abnormal corpus callosum morphology	4123	MAN2C1	OMIM:619775
HP:0001273	Abnormal corpus callosum morphology	85365	ALG2	OMIM:607906
HP:0001273	Abnormal corpus callosum morphology	440	ASNS	OMIM:615574
HP:0001273	Abnormal corpus callosum morphology	4781	NFIB	OMIM:618286
HP:0001273	Abnormal corpus callosum morphology	84631	SLITRK2	OMIM:301107
HP:0001273	Abnormal corpus callosum morphology	111	ADCY5	OMIM:619651
HP:0001273	Abnormal corpus callosum morphology	9487	PIGL	OMIM:280000
HP:0001273	Abnormal corpus callosum morphology	1107	CHD3	OMIM:618205
HP:0001273	Abnormal corpus callosum morphology	9439	MED23	OMIM:614249
HP:0001273	Abnormal corpus callosum morphology	2801	GOLGA2	OMIM:620240
HP:0001273	Abnormal corpus callosum morphology	10159	ATP6AP2	OMIM:300423
HP:0001273	Abnormal corpus callosum morphology	3980	LIG3	OMIM:619780
HP:0001273	Abnormal corpus callosum morphology	1892	ECHS1	OMIM:616277
HP:0001273	Abnormal corpus callosum morphology	51117	COQ4	OMIM:616276
HP:0001273	Abnormal corpus callosum morphology	79587	CARS2	OMIM:616672
HP:0001273	Abnormal corpus callosum morphology	2752	GLUL	OMIM:620806
HP:0001273	Abnormal corpus callosum morphology	221927	BRAT1	OMIM:614498
HP:0001273	Abnormal corpus callosum morphology	58497	PRUNE1	ORPHA:544469
HP:0001273	Abnormal corpus callosum morphology	9373	PLAA	OMIM:617527
HP:0001273	Abnormal corpus callosum morphology	10664	CTCF	OMIM:615502
HP:0001273	Abnormal corpus callosum morphology	5908	RAP1B	OMIM:620654
HP:0001273	Abnormal corpus callosum morphology	267	AMFR	OMIM:620379
HP:0001273	Abnormal corpus callosum morphology	3708	ITPR1	OMIM:206700
HP:0001273	Abnormal corpus callosum morphology	9230	RAB11B	OMIM:617807
HP:0001273	Abnormal corpus callosum morphology	140679	SLC32A1	OMIM:620774
HP:0001273	Abnormal corpus callosum morphology	9900	SV2A	OMIM:620772
HP:0001273	Abnormal corpus callosum morphology	5297	PI4KA	OMIM:619708
HP:0001273	Abnormal corpus callosum morphology	90952	ESAM	OMIM:620371
HP:0001273	Abnormal corpus callosum morphology	10533	ATG7	OMIM:619422
HP:0001273	Abnormal corpus callosum morphology	57688	ZSWIM6	OMIM:603671
HP:0001273	Abnormal corpus callosum morphology	7355	SLC35A2	ORPHA:356961
HP:0001273	Abnormal corpus callosum morphology	2355	FOSL2	OMIM:620789
HP:0001273	Abnormal corpus callosum morphology	5162	PDHB	ORPHA:255138
HP:0001273	Abnormal corpus callosum morphology	129685	TAF8	OMIM:619972
HP:0001273	Abnormal corpus callosum morphology	10073	SNUPN	OMIM:620793
HP:0001273	Abnormal corpus callosum morphology	4047	LSS	ORPHA:2850
HP:0001273	Abnormal corpus callosum morphology	197	AHSG	ORPHA:2850
HP:0001273	Abnormal corpus callosum morphology	3694	ITGB6	ORPHA:2850
HP:0012620	Cloacal abnormality	6862	TBXT	OMIM:615709
HP:0012621	Persistent cloaca	6862	TBXT	OMIM:615709
HP:0012622	Chronic kidney disease	9722	NOS1AP	OMIM:619155
HP:0012622	Chronic kidney disease	4010	LMX1B	ORPHA:2614
HP:0012622	Chronic kidney disease	4010	LMX1B	OMIM:256020
HP:0012622	Chronic kidney disease	6091	ROBO1	OMIM:620305
HP:0012622	Chronic kidney disease	718	C3	OMIM:612925
HP:0012622	Chronic kidney disease	4210	MEFV	OMIM:249100
HP:0012622	Chronic kidney disease	10677	AVIL	OMIM:618594
HP:0012622	Chronic kidney disease	23322	RPGRIP1L	OMIM:611560
HP:0012622	Chronic kidney disease	23322	RPGRIP1L	OMIM:619113
HP:0012622	Chronic kidney disease	10847	SRCAP	ORPHA:2044
HP:0012622	Chronic kidney disease	84520	GON7	OMIM:619603
HP:0012622	Chronic kidney disease	8526	DGKE	OMIM:615008
HP:0012622	Chronic kidney disease	977	CD151	OMIM:609057
HP:0012622	Chronic kidney disease	79693	YRDC	OMIM:619609
HP:0012622	Chronic kidney disease	2542	SLC37A4	ORPHA:79259
HP:0012622	Chronic kidney disease	23005	MAPKBP1	OMIM:617271
HP:0012622	Chronic kidney disease	6928	HNF1B	OMIM:137920
HP:0012622	Chronic kidney disease	3911	LAMA5	OMIM:620049
HP:0012622	Chronic kidney disease	3913	LAMB2	OMIM:609049
HP:0012622	Chronic kidney disease	3913	LAMB2	OMIM:614199
HP:0012622	Chronic kidney disease	4594	MMUT	OMIM:251000
HP:0012622	Chronic kidney disease	25778	DSTYK	OMIM:610805
HP:0012622	Chronic kidney disease	54806	AHI1	OMIM:608629
HP:0012622	Chronic kidney disease	55863	TMEM126B	OMIM:618250
HP:0012622	Chronic kidney disease	203286	ANKS6	OMIM:615382
HP:0012622	Chronic kidney disease	254428	SLC41A1	OMIM:619468
HP:0012622	Chronic kidney disease	4582	MUC1	OMIM:174000
HP:0012622	Chronic kidney disease	55644	OSGEP	OMIM:617729
HP:0012622	Chronic kidney disease	10269	ZMPSTE24	OMIM:608612
HP:0012622	Chronic kidney disease	112858	TP53RK	OMIM:617730
HP:0012622	Chronic kidney disease	8879	SGPL1	OMIM:617575
HP:0012622	Chronic kidney disease	8270	LAGE3	OMIM:301006
HP:0012622	Chronic kidney disease	57545	CC2D2A	OMIM:612285
HP:0012622	Chronic kidney disease	975	CD81	OMIM:613496
HP:0012622	Chronic kidney disease	1286	COL4A4	OMIM:203780
HP:0012622	Chronic kidney disease	284086	NEK8	OMIM:620903
HP:0012622	Chronic kidney disease	284086	NEK8	OMIM:613824
HP:0012622	Chronic kidney disease	51002	TPRKB	OMIM:617731
HP:0012622	Chronic kidney disease	199221	DZIP1L	OMIM:617610
HP:0012622	Chronic kidney disease	199221	DZIP1L	ORPHA:731
HP:0012622	Chronic kidney disease	5580	PRKCD	OMIM:615559
HP:0012622	Chronic kidney disease	79809	TTC21B	OMIM:613819
HP:0012622	Chronic kidney disease	79809	TTC21B	OMIM:613820
HP:0012622	Chronic kidney disease	189	AGXT	ORPHA:93598
HP:0012622	Chronic kidney disease	2335	FN1	OMIM:601894
HP:0012622	Chronic kidney disease	100147744	RNU7-1	OMIM:619487
HP:0012622	Chronic kidney disease	2934	GSN	ORPHA:85448
HP:0012622	Chronic kidney disease	2934	GSN	OMIM:105120
HP:0012622	Chronic kidney disease	50485	SMARCAL1	ORPHA:1830
HP:0012622	Chronic kidney disease	50485	SMARCAL1	OMIM:242900
HP:0012622	Chronic kidney disease	182	JAG1	OMIM:118450
HP:0012622	Chronic kidney disease	10253	SPRY2	OMIM:616818
HP:0012622	Chronic kidney disease	5314	PKHD1	ORPHA:731
HP:0012622	Chronic kidney disease	93649	MYOCD	OMIM:618719
HP:0012622	Chronic kidney disease	5889	RAD51C	OMIM:613390
HP:0012622	Chronic kidney disease	79989	IFT56	OMIM:619534
HP:0012622	Chronic kidney disease	63929	XPNPEP3	OMIM:613159
HP:0012622	Chronic kidney disease	84662	GLIS2	OMIM:611498
HP:0012622	Chronic kidney disease	1376	CPT2	ORPHA:228302
HP:0012622	Chronic kidney disease	64127	NOD2	ORPHA:90340
HP:0012622	Chronic kidney disease	81494	CFHR5	OMIM:614809
HP:0012622	Chronic kidney disease	112752	IFT43	OMIM:614099
HP:0012622	Chronic kidney disease	51004	COQ6	OMIM:614650
HP:0012622	Chronic kidney disease	4069	LYZ	OMIM:620658
HP:0012622	Chronic kidney disease	51134	CEP83	OMIM:615862
HP:0012622	Chronic kidney disease	335	APOA1	OMIM:620657
HP:0012622	Chronic kidney disease	9935	MAFB	OMIM:166300
HP:0012622	Chronic kidney disease	22909	FAN1	OMIM:614817
HP:0012622	Chronic kidney disease	54345	SOX18	OMIM:137940
HP:0012622	Chronic kidney disease	3043	HBB	ORPHA:232
HP:0012622	Chronic kidney disease	2639	GCDH	ORPHA:25
HP:0012622	Chronic kidney disease	7840	ALMS1	ORPHA:64
HP:0012622	Chronic kidney disease	7225	TRPC6	OMIM:603965
HP:0012622	Chronic kidney disease	7225	TRPC6	ORPHA:656
HP:0012622	Chronic kidney disease	25970	SH2B1	ORPHA:261222
HP:0012622	Chronic kidney disease	9056	SLC7A7	ORPHA:470
HP:0012622	Chronic kidney disease	92482	BBIP1	ORPHA:110
HP:0012622	Chronic kidney disease	80184	CEP290	ORPHA:110
HP:0012622	Chronic kidney disease	80184	CEP290	ORPHA:3156
HP:0012622	Chronic kidney disease	11020	IFT27	ORPHA:110
HP:0012622	Chronic kidney disease	582	BBS1	ORPHA:110
HP:0012622	Chronic kidney disease	49855	SCAPER	ORPHA:110
HP:0012622	Chronic kidney disease	4867	NPHP1	ORPHA:110
HP:0012622	Chronic kidney disease	4867	NPHP1	ORPHA:3156
HP:0012622	Chronic kidney disease	51057	WDPCP	ORPHA:110
HP:0012622	Chronic kidney disease	132320	SCLT1	ORPHA:110
HP:0012622	Chronic kidney disease	27241	BBS9	ORPHA:110
HP:0012622	Chronic kidney disease	84984	CEP19	ORPHA:110
HP:0012622	Chronic kidney disease	22954	TRIM32	ORPHA:110
HP:0012622	Chronic kidney disease	54903	MKS1	ORPHA:110
HP:0012622	Chronic kidney disease	79738	BBS10	ORPHA:110
HP:0012622	Chronic kidney disease	123016	TTC8	ORPHA:110
HP:0012622	Chronic kidney disease	26160	IFT172	ORPHA:110
HP:0012622	Chronic kidney disease	26160	IFT172	OMIM:615630
HP:0012622	Chronic kidney disease	583	BBS2	ORPHA:110
HP:0012622	Chronic kidney disease	583	BBS2	OMIM:615981
HP:0012622	Chronic kidney disease	585	BBS4	ORPHA:110
HP:0012622	Chronic kidney disease	8195	MKKS	ORPHA:110
HP:0012622	Chronic kidney disease	54585	LZTFL1	ORPHA:110
HP:0012622	Chronic kidney disease	55212	BBS7	ORPHA:110
HP:0012622	Chronic kidney disease	166379	BBS12	ORPHA:110
HP:0012622	Chronic kidney disease	10806	SDCCAG8	ORPHA:110
HP:0012622	Chronic kidney disease	10806	SDCCAG8	ORPHA:3156
HP:0012622	Chronic kidney disease	157657	CFAP418	ORPHA:110
HP:0012622	Chronic kidney disease	84100	ARL6	ORPHA:110
HP:0012622	Chronic kidney disease	129880	BBS5	ORPHA:110
HP:0012622	Chronic kidney disease	80173	IFT74	ORPHA:110
HP:0012622	Chronic kidney disease	7809	BSND	ORPHA:89938
HP:0012622	Chronic kidney disease	1188	CLCNKB	ORPHA:89938
HP:0012622	Chronic kidney disease	1187	CLCNKA	ORPHA:89938
HP:0012622	Chronic kidney disease	3939	LDHA	ORPHA:284426
HP:0012622	Chronic kidney disease	5076	PAX2	ORPHA:97362
HP:0012622	Chronic kidney disease	5076	PAX2	ORPHA:656
HP:0012622	Chronic kidney disease	5076	PAX2	OMIM:120330
HP:0012622	Chronic kidney disease	5087	PBX1	ORPHA:97362
HP:0012622	Chronic kidney disease	5972	REN	OMIM:613092
HP:0012622	Chronic kidney disease	4952	OCRL	OMIM:300555
HP:0012622	Chronic kidney disease	1184	CLCN5	OMIM:300554
HP:0012622	Chronic kidney disease	1184	CLCN5	OMIM:300009
HP:0012622	Chronic kidney disease	1184	CLCN5	OMIM:310468
HP:0012622	Chronic kidney disease	4567	MT-TL1	ORPHA:324525
HP:0012622	Chronic kidney disease	4567	MT-TL1	ORPHA:480
HP:0012622	Chronic kidney disease	29927	SEC61A1	OMIM:617056
HP:0012622	Chronic kidney disease	2321	FLT1	ORPHA:275555
HP:0012622	Chronic kidney disease	219736	STOX1	ORPHA:275555
HP:0012622	Chronic kidney disease	10699	CORIN	ORPHA:275555
HP:0012622	Chronic kidney disease	54796	BNC2	ORPHA:93110
HP:0012622	Chronic kidney disease	56606	SLC2A9	ORPHA:94088
HP:0012622	Chronic kidney disease	116085	SLC22A12	ORPHA:94088
HP:0012622	Chronic kidney disease	91147	TMEM67	OMIM:602152
HP:0012622	Chronic kidney disease	91147	TMEM67	ORPHA:84081
HP:0012622	Chronic kidney disease	229	ALDOB	ORPHA:469
HP:0012622	Chronic kidney disease	4312	MMP1	ORPHA:79408
HP:0012622	Chronic kidney disease	1294	COL7A1	ORPHA:79408
HP:0012622	Chronic kidney disease	3075	CFH	OMIM:609814
HP:0012622	Chronic kidney disease	374879	ZNF699	OMIM:619488
HP:0012622	Chronic kidney disease	396	ARHGDIA	OMIM:615244
HP:0012622	Chronic kidney disease	396	ARHGDIA	ORPHA:656
HP:0012622	Chronic kidney disease	8942	KYNU	OMIM:617661
HP:0012622	Chronic kidney disease	6288	SAA1	ORPHA:85445
HP:0012622	Chronic kidney disease	2625	GATA3	OMIM:146255
HP:0012622	Chronic kidney disease	51473	DCDC2	ORPHA:84081
HP:0012622	Chronic kidney disease	10686	CLDN16	OMIM:248250
HP:0012622	Chronic kidney disease	353	APRT	ORPHA:976
HP:0012622	Chronic kidney disease	4868	NPHS1	ORPHA:656
HP:0012622	Chronic kidney disease	23607	CD2AP	ORPHA:656
HP:0012622	Chronic kidney disease	9688	NUP93	ORPHA:656
HP:0012622	Chronic kidney disease	4643	MYO1E	ORPHA:656
HP:0012622	Chronic kidney disease	64423	INF2	ORPHA:656
HP:0012622	Chronic kidney disease	26130	GAPVD1	ORPHA:656
HP:0012622	Chronic kidney disease	7490	WT1	ORPHA:656
HP:0012622	Chronic kidney disease	57122	NUP107	ORPHA:656
HP:0012622	Chronic kidney disease	51479	ANKFY1	ORPHA:656
HP:0012622	Chronic kidney disease	54443	ANLN	ORPHA:656
HP:0012622	Chronic kidney disease	5800	PTPRO	ORPHA:656
HP:0012622	Chronic kidney disease	286204	CRB2	ORPHA:656
HP:0012622	Chronic kidney disease	23165	NUP205	ORPHA:656
HP:0012622	Chronic kidney disease	2013	EMP2	ORPHA:656
HP:0012622	Chronic kidney disease	79023	NUP37	ORPHA:656
HP:0012622	Chronic kidney disease	51196	PLCE1	ORPHA:656
HP:0012622	Chronic kidney disease	79902	NUP85	ORPHA:656
HP:0012622	Chronic kidney disease	1285	COL4A3	ORPHA:656
HP:0012622	Chronic kidney disease	79934	COQ8B	ORPHA:656
HP:0012622	Chronic kidney disease	23279	NUP160	ORPHA:656
HP:0012622	Chronic kidney disease	9863	MAGI2	ORPHA:656
HP:0012622	Chronic kidney disease	81	ACTN4	ORPHA:656
HP:0012622	Chronic kidney disease	8542	APOL1	ORPHA:656
HP:0012622	Chronic kidney disease	54885	TBC1D8B	ORPHA:656
HP:0012622	Chronic kidney disease	7827	NPHS2	ORPHA:656
HP:0012622	Chronic kidney disease	83478	ARHGAP24	ORPHA:656
HP:0012622	Chronic kidney disease	23500	DAAM2	ORPHA:656
HP:0012622	Chronic kidney disease	55746	NUP133	ORPHA:656
HP:0012622	Chronic kidney disease	1962	EHHADH	ORPHA:3337
HP:0012622	Chronic kidney disease	2628	GATM	ORPHA:3337
HP:0012622	Chronic kidney disease	137682	NDUFAF6	ORPHA:3337
HP:0012622	Chronic kidney disease	6569	SLC34A1	ORPHA:3337
HP:0012622	Chronic kidney disease	51726	DNAJB11	ORPHA:730
HP:0012622	Chronic kidney disease	23193	GANAB	ORPHA:730
HP:0012622	Chronic kidney disease	5310	PKD1	ORPHA:730
HP:0012622	Chronic kidney disease	5311	PKD2	ORPHA:730
HP:0012622	Chronic kidney disease	29880	ALG5	ORPHA:730
HP:0012622	Chronic kidney disease	9742	IFT140	ORPHA:730
HP:0012622	Chronic kidney disease	79796	ALG9	ORPHA:730
HP:0012622	Chronic kidney disease	80114	BICC1	ORPHA:730
HP:0012622	Chronic kidney disease	7369	UMOD	OMIM:162000
HP:0012622	Chronic kidney disease	3190	HNRNPK	OMIM:616580
HP:0012622	Chronic kidney disease	3458	IFNG	ORPHA:805
HP:0012622	Chronic kidney disease	7248	TSC1	ORPHA:805
HP:0012622	Chronic kidney disease	7249	TSC2	ORPHA:805
HP:0012622	Chronic kidney disease	5837	PYGM	ORPHA:368
HP:0012622	Chronic kidney disease	83480	PUS3	ORPHA:488627
HP:0012622	Chronic kidney disease	55764	IFT122	OMIM:218330
HP:0012622	Chronic kidney disease	9451	EIF2AK3	ORPHA:1667
HP:0012622	Chronic kidney disease	5277	PIGA	ORPHA:447
HP:0012622	Chronic kidney disease	4914	NTRK1	ORPHA:642
HP:0012622	Chronic kidney disease	4509	MT-ATP8	ORPHA:480
HP:0012622	Chronic kidney disease	50484	RRM2B	ORPHA:480
HP:0012622	Chronic kidney disease	149461	CLDN19	OMIM:248190
HP:0012622	Chronic kidney disease	1497	CTNS	ORPHA:411634
HP:0012622	Chronic kidney disease	5498	PPOX	ORPHA:79473
HP:0012622	Chronic kidney disease	54938	SARS2	OMIM:613845
HP:0012622	Chronic kidney disease	26146	TRAF3IP1	ORPHA:3156
HP:0012622	Chronic kidney disease	9657	IQCB1	ORPHA:3156
HP:0012622	Chronic kidney disease	27130	INVS	ORPHA:3156
HP:0012622	Chronic kidney disease	261734	NPHP4	ORPHA:3156
HP:0012622	Chronic kidney disease	57728	WDR19	ORPHA:3156
HP:0012622	Chronic kidney disease	27031	NPHP3	ORPHA:3156
HP:0012622	Chronic kidney disease	22897	CEP164	ORPHA:3156
HP:0012622	Chronic kidney disease	567	B2M	ORPHA:314652
HP:0012622	Chronic kidney disease	54	ACP5	ORPHA:1855
HP:0012622	Chronic kidney disease	1288	COL4A6	ORPHA:1018
HP:0012622	Chronic kidney disease	1287	COL4A5	ORPHA:1018
HP:0012622	Chronic kidney disease	91461	PKDCC	OMIM:618821
HP:0012622	Chronic kidney disease	1136	CHRNA3	OMIM:191800
HP:0012622	Chronic kidney disease	6522	SLC4A2	OMIM:620366
HP:0012622	Chronic kidney disease	5442	POLRMT	OMIM:619743
HP:0012622	Chronic kidney disease	10463	SLC30A9	OMIM:617595
HP:0012622	Chronic kidney disease	5631	PRPS1	ORPHA:411536
HP:0012623	Stage 1 chronic kidney disease	91461	PKDCC	OMIM:618821
HP:0012623	Stage 1 chronic kidney disease	7369	UMOD	OMIM:162000
HP:0012623	Stage 1 chronic kidney disease	55764	IFT122	OMIM:218330
HP:0012624	Stage 2 chronic kidney disease	7369	UMOD	OMIM:162000
HP:0012624	Stage 2 chronic kidney disease	6091	ROBO1	OMIM:620305
HP:0012624	Stage 2 chronic kidney disease	1136	CHRNA3	OMIM:191800
HP:0012625	Stage 3 chronic kidney disease	7369	UMOD	OMIM:162000
HP:0012625	Stage 3 chronic kidney disease	23279	NUP160	OMIM:618178
HP:0012625	Stage 3 chronic kidney disease	6522	SLC4A2	OMIM:620366
HP:0012625	Stage 3 chronic kidney disease	5442	POLRMT	OMIM:619743
HP:0012625	Stage 3 chronic kidney disease	10463	SLC30A9	OMIM:617595
HP:0012626	Stage 4 chronic kidney disease	7369	UMOD	OMIM:162000
HP:0012626	Stage 4 chronic kidney disease	5631	PRPS1	ORPHA:411536
HP:0012627	Pseudoexfoliation	4016	LOXL1	OMIM:177650
HP:0012628	Abnormal suspensory ligament of lens morphology	114902	C1QTNF5	ORPHA:67042
HP:0012629	Phakodonesis	444	ASPH	OMIM:601552
HP:0012629	Phakodonesis	4016	LOXL1	OMIM:177650
HP:0012629	Phakodonesis	170691	ADAMTS17	OMIM:613195
HP:0007325	Generalized dystonia	9757	KMT2B	ORPHA:589618
HP:0007325	Generalized dystonia	55739	NAXD	OMIM:618321
HP:0007325	Generalized dystonia	5354	PLP1	OMIM:312080
HP:0007325	Generalized dystonia	7143	TNR	OMIM:619653
HP:0007325	Generalized dystonia	57680	CHD8	OMIM:615032
HP:0007325	Generalized dystonia	23516	SLC39A14	OMIM:617013
HP:0007325	Generalized dystonia	57679	ALS2	OMIM:205100
HP:0007325	Generalized dystonia	58494	JAM2	OMIM:618824
HP:0007325	Generalized dystonia	8575	PRKRA	OMIM:612067
HP:0007325	Generalized dystonia	2643	GCH1	ORPHA:98808
HP:0007325	Generalized dystonia	4929	NR4A2	ORPHA:98808
HP:0007325	Generalized dystonia	3615	IMPDH2	ORPHA:98808
HP:0007325	Generalized dystonia	53371	NUP54	OMIM:620427
HP:0007325	Generalized dystonia	10382	TUBB4A	ORPHA:98805
HP:0007325	Generalized dystonia	10382	TUBB4A	OMIM:128101
HP:0007325	Generalized dystonia	55145	THAP1	ORPHA:98806
HP:0007325	Generalized dystonia	9256	TSPOAP1	ORPHA:101150
HP:0007325	Generalized dystonia	9256	TSPOAP1	OMIM:620453
HP:0007325	Generalized dystonia	7054	TH	ORPHA:101150
HP:0007325	Generalized dystonia	10128	LRPPRC	ORPHA:70472
HP:0007325	Generalized dystonia	3208	HPCA	ORPHA:99657
HP:0007325	Generalized dystonia	6821	SUOX	OMIM:272300
HP:0007325	Generalized dystonia	60	ACTB	ORPHA:79107
HP:0007325	Generalized dystonia	60	ACTB	OMIM:607371
HP:0007325	Generalized dystonia	1678	TIMM8A	ORPHA:52368
HP:0007325	Generalized dystonia	1737	DLAT	OMIM:245348
HP:0007325	Generalized dystonia	64432	MRPS25	OMIM:619025
HP:0007325	Generalized dystonia	84909	AOPEP	OMIM:619565
HP:0007325	Generalized dystonia	27072	VPS41	OMIM:619389
HP:0007325	Generalized dystonia	79152	FA2H	ORPHA:329308
HP:0007325	Generalized dystonia	79152	FA2H	ORPHA:171629
HP:0007325	Generalized dystonia	4695	NDUFA2	OMIM:618235
HP:0007325	Generalized dystonia	83636	C19orf12	OMIM:614298
HP:0007325	Generalized dystonia	80025	PANK2	ORPHA:216866
HP:0007325	Generalized dystonia	51506	UFC1	OMIM:618076
HP:0007325	Generalized dystonia	51117	COQ4	OMIM:616276
HP:0007325	Generalized dystonia	137682	NDUFAF6	OMIM:618239
HP:0007325	Generalized dystonia	498	ATP5F1A	OMIM:620358
HP:0007325	Generalized dystonia	1861	TOR1A	OMIM:128100
HP:0007326	Progressive choreoathetosis	23230	VPS13A	OMIM:200150
HP:0007327	Mixed demyelinating and axonal polyneuropathy	22880	MORC2	ORPHA:466768
HP:0007327	Mixed demyelinating and axonal polyneuropathy	9997	SCO2	OMIM:604377
HP:0007327	Mixed demyelinating and axonal polyneuropathy	4558	MT-TF	ORPHA:550
HP:0007327	Mixed demyelinating and axonal polyneuropathy	4572	MT-TQ	ORPHA:550
HP:0007327	Mixed demyelinating and axonal polyneuropathy	4512	MT-CO1	ORPHA:550
HP:0007327	Mixed demyelinating and axonal polyneuropathy	4513	MT-CO2	ORPHA:550
HP:0007327	Mixed demyelinating and axonal polyneuropathy	4514	MT-CO3	ORPHA:550
HP:0007327	Mixed demyelinating and axonal polyneuropathy	4578	MT-TW	ORPHA:550
HP:0007327	Mixed demyelinating and axonal polyneuropathy	4540	MT-ND5	ORPHA:550
HP:0007327	Mixed demyelinating and axonal polyneuropathy	4541	MT-ND6	ORPHA:550
HP:0007327	Mixed demyelinating and axonal polyneuropathy	4535	MT-ND1	ORPHA:550
HP:0007327	Mixed demyelinating and axonal polyneuropathy	4538	MT-ND4	ORPHA:550
HP:0007327	Mixed demyelinating and axonal polyneuropathy	4567	MT-TL1	ORPHA:550
HP:0007327	Mixed demyelinating and axonal polyneuropathy	4574	MT-TS1	ORPHA:550
HP:0007327	Mixed demyelinating and axonal polyneuropathy	4575	MT-TS2	ORPHA:550
HP:0007327	Mixed demyelinating and axonal polyneuropathy	4564	MT-TH	ORPHA:550
HP:0007327	Mixed demyelinating and axonal polyneuropathy	540	ATP7B	OMIM:277900
HP:0007327	Mixed demyelinating and axonal polyneuropathy	4747	NEFL	ORPHA:101085
HP:0003215	Dicarboxylic aciduria	79783	SUGCT	ORPHA:35706
HP:0003215	Dicarboxylic aciduria	79783	SUGCT	OMIM:231690
HP:0003215	Dicarboxylic aciduria	2639	GCDH	ORPHA:25
HP:0003215	Dicarboxylic aciduria	2639	GCDH	OMIM:231670
HP:0003215	Dicarboxylic aciduria	728294	D2HGDH	OMIM:600721
HP:0003215	Dicarboxylic aciduria	3155	HMGCL	OMIM:246450
HP:0003215	Dicarboxylic aciduria	2110	ETFDH	OMIM:231680
HP:0003215	Dicarboxylic aciduria	2108	ETFA	OMIM:231680
HP:0003215	Dicarboxylic aciduria	2109	ETFB	OMIM:231680
HP:0003215	Dicarboxylic aciduria	3158	HMGCS2	OMIM:605911
HP:0003215	Dicarboxylic aciduria	197322	ACSF3	ORPHA:289504
HP:0003215	Dicarboxylic aciduria	34	ACADM	ORPHA:42
HP:0003215	Dicarboxylic aciduria	51241	COX16	OMIM:619355
HP:0003215	Dicarboxylic aciduria	55687	TRMU	OMIM:613070
HP:0003215	Dicarboxylic aciduria	37	ACADVL	OMIM:201475
HP:0003215	Dicarboxylic aciduria	3033	HADH	OMIM:231530
HP:0003215	Dicarboxylic aciduria	3033	HADH	ORPHA:71212
HP:0003215	Dicarboxylic aciduria	1374	CPT1A	OMIM:255120
HP:0003215	Dicarboxylic aciduria	55065	SLC52A1	OMIM:615026
HP:0003215	Dicarboxylic aciduria	788	SLC25A20	OMIM:212138
HP:0003215	Dicarboxylic aciduria	788	SLC25A20	ORPHA:159
HP:0003215	Dicarboxylic aciduria	54148	MRPL39	OMIM:620646
HP:0003215	Dicarboxylic aciduria	28976	ACAD9	OMIM:611126
HP:0003215	Dicarboxylic aciduria	28976	ACAD9	ORPHA:99901
HP:0003215	Dicarboxylic aciduria	5195	PEX14	OMIM:614887
HP:0003215	Dicarboxylic aciduria	1376	CPT2	ORPHA:228308
HP:0003215	Dicarboxylic aciduria	27034	ACAD8	ORPHA:79159
HP:0003215	Dicarboxylic aciduria	6584	SLC22A5	OMIM:212140
HP:0003215	Dicarboxylic aciduria	23474	ETHE1	ORPHA:51188
HP:0003215	Dicarboxylic aciduria	23474	ETHE1	OMIM:602473
HP:0003215	Dicarboxylic aciduria	3329	HSPD1	OMIM:612233
HP:0003215	Dicarboxylic aciduria	5428	POLG	OMIM:203700
HP:0003215	Dicarboxylic aciduria	8802	SUCLG1	ORPHA:17
HP:0003215	Dicarboxylic aciduria	35	ACADS	OMIM:201470
HP:0003215	Dicarboxylic aciduria	35	ACADS	ORPHA:26792
HP:0003215	Dicarboxylic aciduria	4724	NDUFS4	OMIM:252010
HP:0003215	Dicarboxylic aciduria	119559	SFXN4	OMIM:615578
HP:0003215	Dicarboxylic aciduria	25974	MMACHC	ORPHA:79282
HP:0003215	Dicarboxylic aciduria	25974	MMACHC	OMIM:277400
HP:0003215	Dicarboxylic aciduria	3054	HCFC1	OMIM:309541
HP:0003215	Dicarboxylic aciduria	23417	MLYCD	OMIM:248360
HP:0003215	Dicarboxylic aciduria	4329	ALDH6A1	OMIM:614105
HP:0003215	Dicarboxylic aciduria	6948	TCN2	OMIM:275350
HP:0003215	Dicarboxylic aciduria	6948	TCN2	ORPHA:859
HP:0003215	Dicarboxylic aciduria	55788	LMBRD1	ORPHA:79284
HP:0003215	Dicarboxylic aciduria	55788	LMBRD1	OMIM:277380
HP:0003215	Dicarboxylic aciduria	27249	MMADHC	OMIM:277410
HP:0003215	Dicarboxylic aciduria	4594	MMUT	OMIM:251000
HP:0003215	Dicarboxylic aciduria	84693	MCEE	OMIM:251120
HP:0003215	Dicarboxylic aciduria	166785	MMAA	OMIM:251100
HP:0003215	Dicarboxylic aciduria	4552	MTRR	OMIM:236270
HP:0003215	Dicarboxylic aciduria	8803	SUCLA2	OMIM:612073
HP:0003215	Dicarboxylic aciduria	8803	SUCLA2	ORPHA:1933
HP:0003215	Dicarboxylic aciduria	132001	TAMM41	OMIM:620139
HP:0003215	Dicarboxylic aciduria	51293	CD320	OMIM:613646
HP:0003215	Dicarboxylic aciduria	5826	ABCD4	OMIM:614857
HP:0003215	Dicarboxylic aciduria	4548	MTR	OMIM:250940
HP:0003215	Dicarboxylic aciduria	326625	MMAB	OMIM:251110
HP:0003215	Dicarboxylic aciduria	5052	PRDX1	OMIM:277400
HP:0003215	Dicarboxylic aciduria	5498	PPOX	OMIM:176200
HP:0003215	Dicarboxylic aciduria	5498	PPOX	ORPHA:79473
HP:0003215	Dicarboxylic aciduria	1371	CPOX	ORPHA:79273
HP:0003215	Dicarboxylic aciduria	1371	CPOX	OMIM:121300
HP:0003215	Dicarboxylic aciduria	1371	CPOX	OMIM:618892
HP:0003215	Dicarboxylic aciduria	210	ALAD	ORPHA:100924
HP:0003215	Dicarboxylic aciduria	3145	HMBS	ORPHA:79276
HP:0003215	Dicarboxylic aciduria	7390	UROS	ORPHA:79277
HP:0003215	Dicarboxylic aciduria	2623	GATA1	ORPHA:79277
HP:0003215	Dicarboxylic aciduria	3418	IDH2	OMIM:613657
HP:0003215	Dicarboxylic aciduria	3417	IDH1	ORPHA:99646
HP:0003215	Dicarboxylic aciduria	51117	COQ4	OMIM:616276
HP:0003215	Dicarboxylic aciduria	2271	FH	OMIM:606812
HP:0003215	Dicarboxylic aciduria	6341	SCO1	OMIM:619048
HP:0003215	Dicarboxylic aciduria	6576	SLC25A1	OMIM:615182
HP:0003215	Dicarboxylic aciduria	64849	SLC13A3	OMIM:618384
HP:0003215	Dicarboxylic aciduria	763	CA5A	OMIM:615751
HP:0003215	Dicarboxylic aciduria	3242	HPD	OMIM:140350
HP:0003215	Dicarboxylic aciduria	55526	DHTKD1	OMIM:204750
HP:0003215	Dicarboxylic aciduria	26235	FBXL4	OMIM:615471
HP:0003215	Dicarboxylic aciduria	10841	FTCD	OMIM:229100
HP:0003215	Dicarboxylic aciduria	79944	L2HGDH	OMIM:236792
HP:0003215	Dicarboxylic aciduria	27247	NFU1	OMIM:605711
HP:0003215	Dicarboxylic aciduria	3954	LETM1	OMIM:620089
HP:0003215	Dicarboxylic aciduria	2222	FDFT1	OMIM:618156
HP:0033454	Tube feeding	8626	TP63	OMIM:106260
HP:0033454	Tube feeding	80267	EDEM3	OMIM:619493
HP:0033454	Tube feeding	84340	GFM2	ORPHA:565624
HP:0033454	Tube feeding	1351	COX8A	OMIM:619059
HP:0033454	Tube feeding	10664	CTCF	ORPHA:363611
HP:0033454	Tube feeding	284058	KANSL1	ORPHA:363958
HP:0033454	Tube feeding	284058	KANSL1	ORPHA:363965
HP:0033454	Tube feeding	1859	DYRK1A	ORPHA:268261
HP:0033454	Tube feeding	10846	PDE10A	ORPHA:494526
HP:0033454	Tube feeding	8218	CLTCL1	ORPHA:453510
HP:0033454	Tube feeding	51604	PIGT	ORPHA:369837
HP:0033454	Tube feeding	1387	CREBBP	ORPHA:353277
HP:0033454	Tube feeding	1280	COL2A1	ORPHA:93316
HP:0033454	Tube feeding	23314	SATB2	ORPHA:251028
HP:0033454	Tube feeding	2917	GRM7	OMIM:618922
HP:0033454	Tube feeding	259232	NALCN	ORPHA:371364
HP:0033454	Tube feeding	285175	UNC80	ORPHA:371364
HP:0033454	Tube feeding	2581	GALC	ORPHA:206436
HP:0033454	Tube feeding	5660	PSAP	ORPHA:206436
HP:0033454	Tube feeding	3190	HNRNPK	ORPHA:352665
HP:0033454	Tube feeding	3190	HNRNPK	ORPHA:453504
HP:0033454	Tube feeding	93986	FOXP2	ORPHA:251061
HP:0033454	Tube feeding	22827	PUF60	ORPHA:508488
HP:0033454	Tube feeding	57190	SELENON	ORPHA:2020
HP:0033454	Tube feeding	4633	MYL2	ORPHA:2020
HP:0033454	Tube feeding	3679	ITGA7	ORPHA:2020
HP:0033454	Tube feeding	7169	TPM2	ORPHA:2020
HP:0033454	Tube feeding	9200	HACD1	ORPHA:2020
HP:0033454	Tube feeding	7170	TPM3	ORPHA:2020
HP:0033454	Tube feeding	51776	MAP3K20	ORPHA:2020
HP:0033454	Tube feeding	4556	MT-TE	ORPHA:254864
HP:0033454	Tube feeding	55687	TRMU	ORPHA:254864
HP:0033454	Tube feeding	84706	GPT2	ORPHA:477673
HP:0033454	Tube feeding	10342	TFG	ORPHA:90117
HP:0033454	Tube feeding	2033	EP300	ORPHA:353284
HP:0033454	Tube feeding	6638	SNRPN	ORPHA:177907
HP:0033454	Tube feeding	673	BRAF	OMIM:613706
HP:0033454	Tube feeding	3417	IDH1	ORPHA:99646
HP:0033454	Tube feeding	7528	YY1	ORPHA:506358
HP:0033454	Tube feeding	10059	DNM1L	ORPHA:330050
HP:0033454	Tube feeding	23394	ADNP	ORPHA:404448
HP:0033454	Tube feeding	91574	MTRFR	ORPHA:254930
HP:0033454	Tube feeding	10466	COG5	ORPHA:263487
HP:0033454	Tube feeding	26005	C2CD3	ORPHA:434179
HP:0033454	Tube feeding	1861	TOR1A	OMIM:618947
HP:0033454	Tube feeding	4897	NRCAM	OMIM:619833
HP:0033454	Tube feeding	6323	SCN1A	OMIM:619317
HP:0033454	Tube feeding	6328	SCN3A	OMIM:617938
HP:0033454	Tube feeding	23345	SYNE1	ORPHA:319332
HP:0033454	Tube feeding	8405	SPOP	OMIM:618828
HP:0033454	Tube feeding	10128	LRPPRC	ORPHA:70472
HP:0033454	Tube feeding	7343	UBTF	ORPHA:500180
HP:0033454	Tube feeding	128869	PIGU	OMIM:618590
HP:0033454	Tube feeding	27125	AFF4	ORPHA:444077
HP:0033454	Tube feeding	4247	MGAT2	ORPHA:79329
HP:0033454	Tube feeding	283446	MYO1H	OMIM:619482
HP:0033454	Tube feeding	5631	PRPS1	ORPHA:423479
HP:0033454	Tube feeding	2521	FUS	ORPHA:300605
HP:0033454	Tube feeding	80208	SPG11	ORPHA:300605
HP:0033454	Tube feeding	10280	SIGMAR1	ORPHA:300605
HP:0033454	Tube feeding	10558	SPTLC1	ORPHA:300605
HP:0033454	Tube feeding	57679	ALS2	ORPHA:300605
HP:0033454	Tube feeding	80232	WDR26	ORPHA:513456
HP:0033454	Tube feeding	51112	TRAPPC12	ORPHA:500144
HP:0033454	Tube feeding	2222	FDFT1	OMIM:618156
HP:0033454	Tube feeding	253959	RALGAPA1	OMIM:618797
HP:0033454	Tube feeding	7204	TRIO	ORPHA:476126
HP:0033454	Tube feeding	83737	ITCH	OMIM:613385
HP:0033454	Tube feeding	83737	ITCH	ORPHA:228426
HP:0033454	Tube feeding	1294	COL7A1	ORPHA:89842
HP:0033454	Tube feeding	7358	UGDH	OMIM:618792
HP:0033454	Tube feeding	28514	DLL1	ORPHA:280195
HP:0033454	Tube feeding	28514	DLL1	ORPHA:220386
HP:0033454	Tube feeding	28514	DLL1	ORPHA:93926
HP:0033454	Tube feeding	28514	DLL1	ORPHA:93924
HP:0033454	Tube feeding	28514	DLL1	ORPHA:93925
HP:0033454	Tube feeding	2253	FGF8	ORPHA:280195
HP:0033454	Tube feeding	2253	FGF8	ORPHA:220386
HP:0033454	Tube feeding	2253	FGF8	ORPHA:93926
HP:0033454	Tube feeding	2253	FGF8	ORPHA:93924
HP:0033454	Tube feeding	2253	FGF8	ORPHA:93925
HP:0033454	Tube feeding	6496	SIX3	ORPHA:280195
HP:0033454	Tube feeding	6496	SIX3	ORPHA:220386
HP:0033454	Tube feeding	6496	SIX3	ORPHA:93926
HP:0033454	Tube feeding	6496	SIX3	ORPHA:93924
HP:0033454	Tube feeding	6496	SIX3	ORPHA:93925
HP:0033454	Tube feeding	7050	TGIF1	ORPHA:280195
HP:0033454	Tube feeding	7050	TGIF1	ORPHA:220386
HP:0033454	Tube feeding	7050	TGIF1	ORPHA:93926
HP:0033454	Tube feeding	7050	TGIF1	ORPHA:93924
HP:0033454	Tube feeding	7050	TGIF1	ORPHA:93925
HP:0033454	Tube feeding	4838	NODAL	ORPHA:280195
HP:0033454	Tube feeding	4838	NODAL	ORPHA:220386
HP:0033454	Tube feeding	4838	NODAL	ORPHA:93926
HP:0033454	Tube feeding	4838	NODAL	ORPHA:93924
HP:0033454	Tube feeding	4838	NODAL	ORPHA:93925
HP:0033454	Tube feeding	6469	SHH	ORPHA:280195
HP:0033454	Tube feeding	6469	SHH	ORPHA:220386
HP:0033454	Tube feeding	6469	SHH	ORPHA:93926
HP:0033454	Tube feeding	6469	SHH	ORPHA:93924
HP:0033454	Tube feeding	6469	SHH	ORPHA:93925
HP:0033454	Tube feeding	7546	ZIC2	ORPHA:280195
HP:0033454	Tube feeding	7546	ZIC2	ORPHA:220386
HP:0033454	Tube feeding	7546	ZIC2	ORPHA:93926
HP:0033454	Tube feeding	7546	ZIC2	ORPHA:93924
HP:0033454	Tube feeding	7546	ZIC2	ORPHA:93925
HP:0033454	Tube feeding	6491	STIL	ORPHA:280195
HP:0033454	Tube feeding	6491	STIL	ORPHA:220386
HP:0033454	Tube feeding	6491	STIL	ORPHA:93926
HP:0033454	Tube feeding	6491	STIL	ORPHA:93924
HP:0033454	Tube feeding	6491	STIL	ORPHA:93925
HP:0033454	Tube feeding	2619	GAS1	ORPHA:280195
HP:0033454	Tube feeding	2619	GAS1	ORPHA:220386
HP:0033454	Tube feeding	2619	GAS1	ORPHA:93926
HP:0033454	Tube feeding	2619	GAS1	ORPHA:93924
HP:0033454	Tube feeding	2619	GAS1	ORPHA:93925
HP:0033454	Tube feeding	84976	DISP1	ORPHA:280195
HP:0033454	Tube feeding	84976	DISP1	ORPHA:220386
HP:0033454	Tube feeding	84976	DISP1	ORPHA:93926
HP:0033454	Tube feeding	84976	DISP1	ORPHA:93924
HP:0033454	Tube feeding	84976	DISP1	ORPHA:93925
HP:0033454	Tube feeding	2736	GLI2	ORPHA:280195
HP:0033454	Tube feeding	2736	GLI2	ORPHA:220386
HP:0033454	Tube feeding	2736	GLI2	ORPHA:93926
HP:0033454	Tube feeding	2736	GLI2	ORPHA:93924
HP:0033454	Tube feeding	2736	GLI2	ORPHA:93925
HP:0033454	Tube feeding	8928	FOXH1	ORPHA:280195
HP:0033454	Tube feeding	8928	FOXH1	ORPHA:220386
HP:0033454	Tube feeding	8928	FOXH1	ORPHA:93926
HP:0033454	Tube feeding	8928	FOXH1	ORPHA:93924
HP:0033454	Tube feeding	8928	FOXH1	ORPHA:93925
HP:0033454	Tube feeding	6997	CRIPTO	ORPHA:280195
HP:0033454	Tube feeding	6997	CRIPTO	ORPHA:220386
HP:0033454	Tube feeding	6997	CRIPTO	ORPHA:93926
HP:0033454	Tube feeding	6997	CRIPTO	ORPHA:93924
HP:0033454	Tube feeding	6997	CRIPTO	ORPHA:93925
HP:0033454	Tube feeding	5727	PTCH1	ORPHA:280195
HP:0033454	Tube feeding	5727	PTCH1	ORPHA:220386
HP:0033454	Tube feeding	5727	PTCH1	ORPHA:93926
HP:0033454	Tube feeding	5727	PTCH1	ORPHA:93924
HP:0033454	Tube feeding	5727	PTCH1	ORPHA:93925
HP:0033454	Tube feeding	50937	CDON	ORPHA:280195
HP:0033454	Tube feeding	50937	CDON	ORPHA:220386
HP:0033454	Tube feeding	50937	CDON	ORPHA:93926
HP:0033454	Tube feeding	50937	CDON	ORPHA:93924
HP:0033454	Tube feeding	50937	CDON	ORPHA:93925
HP:0033454	Tube feeding	283989	TSEN54	ORPHA:2524
HP:0033454	Tube feeding	116461	TSEN15	ORPHA:2524
HP:0033454	Tube feeding	79042	TSEN34	ORPHA:2524
HP:0033454	Tube feeding	80746	TSEN2	ORPHA:2524
HP:0033454	Tube feeding	51091	SEPSECS	ORPHA:2524
HP:0033454	Tube feeding	80055	PGAP1	OMIM:615802
HP:0033454	Tube feeding	55152	DALRD3	OMIM:618910
HP:0033454	Tube feeding	79633	FAT4	ORPHA:314679
HP:0033454	Tube feeding	8642	DCHS1	ORPHA:314679
HP:0033454	Tube feeding	388015	RTL1	ORPHA:96334
HP:0033454	Tube feeding	8788	DLK1	ORPHA:96334
HP:0033454	Tube feeding	55384	MEG3	ORPHA:96334
HP:0033454	Tube feeding	9338	TCEAL1	OMIM:301094
HP:0033454	Tube feeding	443	ASPA	ORPHA:314911
HP:0033454	Tube feeding	87178	PNPT1	ORPHA:319514
HP:0033454	Tube feeding	79158	GNPTAB	ORPHA:576
HP:0033454	Tube feeding	1185	CLCN6	OMIM:619173
HP:0033454	Tube feeding	84992	PIGY	ORPHA:247262
HP:0033454	Tube feeding	84720	PIGO	ORPHA:247262
HP:0033454	Tube feeding	93210	PGAP3	ORPHA:247262
HP:0033454	Tube feeding	284098	PIGW	ORPHA:247262
HP:0033454	Tube feeding	27315	PGAP2	ORPHA:247262
HP:0033454	Tube feeding	55650	PIGV	ORPHA:247262
HP:0033454	Tube feeding	9487	PIGL	ORPHA:247262
HP:0033454	Tube feeding	6651	SON	ORPHA:500150
HP:0033454	Tube feeding	25885	POLR1A	OMIM:616462
HP:0033454	Tube feeding	166378	AFG2A	ORPHA:457351
HP:0033454	Tube feeding	2260	FGFR1	ORPHA:220386
HP:0033454	Tube feeding	2260	FGFR1	ORPHA:93924
HP:0033454	Tube feeding	10735	STAG2	ORPHA:220386
HP:0033454	Tube feeding	10735	STAG2	ORPHA:93925
HP:0033454	Tube feeding	8243	SMC1A	ORPHA:220386
HP:0033454	Tube feeding	8560	DEGS1	OMIM:618404
HP:0033454	Tube feeding	819	CAMLG	OMIM:620201
HP:0033454	Tube feeding	2055	CLN8	ORPHA:1947
HP:0033454	Tube feeding	9361	LONP1	ORPHA:79243
HP:0033454	Tube feeding	5160	PDHA1	ORPHA:79243
HP:0033454	Tube feeding	57731	SPTBN4	OMIM:617519
HP:0033454	Tube feeding	8813	DPM1	ORPHA:79322
HP:0033454	Tube feeding	6509	SLC1A4	ORPHA:447997
HP:0033454	Tube feeding	79087	ALG12	ORPHA:79324
HP:0033454	Tube feeding	641	BLM	ORPHA:125
HP:0033454	Tube feeding	29968	PSAT1	ORPHA:284417
HP:0033454	Tube feeding	6792	CDKL5	ORPHA:505652
HP:0033454	Tube feeding	4204	MECP2	ORPHA:209370
HP:0033454	Tube feeding	8884	SLC5A6	OMIM:618973
HP:0033454	Tube feeding	25930	PTPN23	OMIM:618890
HP:0033454	Tube feeding	131377	KLHL40	OMIM:615348
HP:0033454	Tube feeding	23007	PLCH1	ORPHA:93925
HP:0033454	Tube feeding	5518	PPP2R1A	ORPHA:457284
HP:0033454	Tube feeding	11342	RNF13	ORPHA:544503
HP:0033454	Tube feeding	3852	KRT5	ORPHA:79396
HP:0033454	Tube feeding	3861	KRT14	ORPHA:79396
HP:0033454	Tube feeding	9325	TRIP4	ORPHA:486815
HP:0033454	Tube feeding	26040	SETBP1	ORPHA:798
HP:0033454	Tube feeding	2019	EN1	OMIM:619218
HP:0033454	Tube feeding	25828	TXN2	ORPHA:478029
HP:0033454	Tube feeding	126792	B3GALT6	OMIM:609465
HP:0033454	Tube feeding	58499	ZNF462	ORPHA:502430
HP:0033454	Tube feeding	54888	NSUN2	OMIM:611091
HP:0033454	Tube feeding	10043	TOM1	OMIM:619510
HP:0033454	Tube feeding	9851	KIAA0753	OMIM:619479
HP:0033454	Tube feeding	8260	NAA10	OMIM:300855
HP:0033454	Tube feeding	80204	FBXO11	OMIM:618089
HP:0033454	Tube feeding	5913	RAPSN	OMIM:616326
HP:0033454	Tube feeding	8565	YARS1	OMIM:619418
HP:0033454	Tube feeding	2058	EPRS1	OMIM:617951
HP:0033454	Tube feeding	8481	OFD1	OMIM:300804
HP:0033454	Tube feeding	93627	TBCK	OMIM:616900
HP:0033454	Tube feeding	6329	SCN4A	OMIM:620369
HP:0033454	Tube feeding	11267	SNF8	OMIM:620784
HP:0033454	Tube feeding	11267	SNF8	OMIM:620783
HP:0033454	Tube feeding	3913	LAMB2	OMIM:609049
HP:0033454	Tube feeding	4534	MTM1	OMIM:310400
HP:0033454	Tube feeding	100033413	SNORD116-1	OMIM:176270
HP:0033454	Tube feeding	8924	HERC2	OMIM:176270
HP:0033454	Tube feeding	23742	NPAP1	OMIM:176270
HP:0033454	Tube feeding	338433	SNORD115-1	OMIM:176270
HP:0033454	Tube feeding	54551	MAGEL2	OMIM:176270
HP:0033454	Tube feeding	7681	MKRN3	OMIM:176270
HP:0033454	Tube feeding	145624	PWAR1	OMIM:176270
HP:0033454	Tube feeding	3653	IPW	OMIM:176270
HP:0033454	Tube feeding	791114	PWRN1	OMIM:176270
HP:0033454	Tube feeding	5700	PSMC1	OMIM:620071
HP:0033454	Tube feeding	9578	CDC42BPB	OMIM:619841
HP:0033454	Tube feeding	81570	CLPB	OMIM:616271
HP:0033454	Tube feeding	8789	FBP2	OMIM:619864
HP:0033454	Tube feeding	80816	ASXL3	OMIM:615485
HP:0033454	Tube feeding	1841	DTYMK	OMIM:619847
HP:0033454	Tube feeding	56479	KCNQ5	OMIM:617601
HP:0033454	Tube feeding	79813	EHMT1	OMIM:610253
HP:0033454	Tube feeding	4000	LMNA	OMIM:613205
HP:0033454	Tube feeding	58	ACTA1	OMIM:620278
HP:0033454	Tube feeding	1974	EIF4A2	OMIM:620455
HP:0033454	Tube feeding	26834	RNU4-2	OMIM:620851
HP:0033454	Tube feeding	78987	CRELD1	OMIM:620771
HP:0033454	Tube feeding	2799	GNS	OMIM:252940
HP:0033454	Tube feeding	1759	DNM1	OMIM:620352
HP:0033454	Tube feeding	4841	NONO	ORPHA:466791
HP:0033454	Tube feeding	7809	BSND	ORPHA:89938
HP:0033454	Tube feeding	1188	CLCNKB	ORPHA:89938
HP:0033454	Tube feeding	1187	CLCNKA	ORPHA:89938
HP:0033454	Tube feeding	85365	ALG2	OMIM:607906
HP:0033454	Tube feeding	215	ABCD1	ORPHA:139396
HP:0033454	Tube feeding	55037	PTCD3	OMIM:619057
HP:0033454	Tube feeding	50943	FOXP3	ORPHA:37042
HP:0033454	Tube feeding	9401	RECQL4	ORPHA:221016
HP:0033454	Tube feeding	7355	SLC35A2	ORPHA:356961
HP:0033454	Tube feeding	8818	DPM2	ORPHA:329178
HP:0033454	Tube feeding	51322	WAC	ORPHA:466950
HP:0033454	Tube feeding	378884	NHLRC1	ORPHA:501
HP:0033454	Tube feeding	7957	EPM2A	ORPHA:501
HP:0033454	Tube feeding	5293	PIK3CD	ORPHA:221139
HP:0033454	Tube feeding	90417	KNSTRN	ORPHA:221139
HP:0033454	Tube feeding	9526	MPDU1	ORPHA:79323
HP:0033454	Tube feeding	5354	PLP1	ORPHA:280210
HP:0033454	Tube feeding	197322	ACSF3	ORPHA:289504
HP:0033454	Tube feeding	55610	VPS50	OMIM:619685
HP:0033454	Tube feeding	374879	ZNF699	OMIM:619488
HP:0033454	Tube feeding	79587	CARS2	ORPHA:477774
HP:0033454	Tube feeding	57520	HECW2	OMIM:617268
HP:0033454	Tube feeding	51305	KCNK9	ORPHA:166108
HP:0033454	Tube feeding	56947	MFF	ORPHA:485421
HP:0033454	Tube feeding	10157	AASS	ORPHA:2203
HP:0033454	Tube feeding	6492	SIM1	ORPHA:398079
HP:0033454	Tube feeding	55690	PACS1	ORPHA:329224
HP:0033454	Tube feeding	112939	NACC1	ORPHA:500545
HP:0033454	Tube feeding	2783	GNB2	OMIM:619503
HP:0033454	Tube feeding	4632	MYL1	OMIM:618414
HP:0033454	Tube feeding	10847	SRCAP	ORPHA:2044
HP:0033454	Tube feeding	7841	MOGS	ORPHA:79330
HP:0033454	Tube feeding	2902	GRIN1	ORPHA:208447
HP:0033454	Tube feeding	1288	COL4A6	ORPHA:1018
HP:0033454	Tube feeding	1287	COL4A5	ORPHA:1018
HP:0033454	Tube feeding	64682	ANAPC1	ORPHA:221008
HP:0033456	Elevated urine keto acid level	593	BCKDHA	OMIM:248600
HP:0033459	Decreased circulating apolipoprotein concentration	335	APOA1	OMIM:619836
HP:0033459	Decreased circulating apolipoprotein concentration	335	APOA1	OMIM:620657
HP:0033459	Decreased circulating apolipoprotein concentration	19	ABCA1	OMIM:205400
HP:0033459	Decreased circulating apolipoprotein concentration	344	APOC2	OMIM:207750
HP:0033459	Decreased circulating apolipoprotein concentration	22948	CCT5	OMIM:256840
HP:0030205	Increased jitter at single fiber EMG	199857	ALG14	OMIM:616227
HP:0030205	Increased jitter at single fiber EMG	199857	ALG14	ORPHA:353327
HP:0030205	Increased jitter at single fiber EMG	1305	COL13A1	OMIM:616720
HP:0030205	Increased jitter at single fiber EMG	1798	DPAGT1	OMIM:614750
HP:0030205	Increased jitter at single fiber EMG	1798	DPAGT1	ORPHA:353327
HP:0030205	Increased jitter at single fiber EMG	60482	SLC5A7	OMIM:158580
HP:0030205	Increased jitter at single fiber EMG	6576	SLC25A1	OMIM:618197
HP:0030205	Increased jitter at single fiber EMG	29925	GMPPB	ORPHA:353327
HP:0030205	Increased jitter at single fiber EMG	2673	GFPT1	ORPHA:353327
HP:0030205	Increased jitter at single fiber EMG	85365	ALG2	ORPHA:353327
HP:0033460	Increased circulating apolipoprotein circulation	4023	LPL	OMIM:144250
HP:0033460	Increased circulating apolipoprotein circulation	19	ABCA1	OMIM:205400
HP:0007330	Frontoethmoidal encephalocele	157570	ESCO2	OMIM:268300
HP:0007330	Frontoethmoidal encephalocele	28514	DLL1	ORPHA:280195
HP:0007330	Frontoethmoidal encephalocele	2253	FGF8	ORPHA:280195
HP:0007330	Frontoethmoidal encephalocele	6496	SIX3	ORPHA:280195
HP:0007330	Frontoethmoidal encephalocele	7050	TGIF1	ORPHA:280195
HP:0007330	Frontoethmoidal encephalocele	4838	NODAL	ORPHA:280195
HP:0007330	Frontoethmoidal encephalocele	6469	SHH	ORPHA:280195
HP:0007330	Frontoethmoidal encephalocele	7546	ZIC2	ORPHA:280195
HP:0007330	Frontoethmoidal encephalocele	6491	STIL	ORPHA:280195
HP:0007330	Frontoethmoidal encephalocele	2619	GAS1	ORPHA:280195
HP:0007330	Frontoethmoidal encephalocele	84976	DISP1	ORPHA:280195
HP:0007330	Frontoethmoidal encephalocele	2736	GLI2	ORPHA:280195
HP:0007330	Frontoethmoidal encephalocele	8928	FOXH1	ORPHA:280195
HP:0007330	Frontoethmoidal encephalocele	6997	CRIPTO	ORPHA:280195
HP:0007330	Frontoethmoidal encephalocele	5727	PTCH1	ORPHA:280195
HP:0007330	Frontoethmoidal encephalocele	50937	CDON	ORPHA:280195
HP:0007330	Frontoethmoidal encephalocele	30813	VSX1	OMIM:614195
HP:0007332	Focal hemifacial clonic seizure	57465	TBC1D24	OMIM:608105
HP:0007332	Focal hemifacial clonic seizure	57465	TBC1D24	ORPHA:163727
HP:0007332	Focal hemifacial clonic seizure	27286	SRPX2	ORPHA:1945
HP:0007332	Focal hemifacial clonic seizure	2903	GRIN2A	ORPHA:1945
HP:0007332	Focal hemifacial clonic seizure	2566	GABRG2	ORPHA:1945
HP:0012630	Abnormal trabecular meshwork morphology	4016	LOXL1	OMIM:177650
HP:0012631	Pigment deposition in the trabecular meshwork	4016	LOXL1	OMIM:177650
HP:0012632	Abnormal intraocular pressure	5309	PITX3	OMIM:107250
HP:0012632	Abnormal intraocular pressure	7837	PXDN	OMIM:269400
HP:0012632	Abnormal intraocular pressure	3105	HLA-A	ORPHA:179
HP:0012632	Abnormal intraocular pressure	7010	TEK	OMIM:617272
HP:0012632	Abnormal intraocular pressure	7010	TEK	ORPHA:98976
HP:0012632	Abnormal intraocular pressure	170691	ADAMTS17	OMIM:613195
HP:0012632	Abnormal intraocular pressure	80781	COL18A1	OMIM:618880
HP:0012632	Abnormal intraocular pressure	113189	CHST14	ORPHA:2953
HP:0012632	Abnormal intraocular pressure	29940	DSE	ORPHA:2953
HP:0012632	Abnormal intraocular pressure	2335	FN1	ORPHA:93315
HP:0012632	Abnormal intraocular pressure	1280	COL2A1	ORPHA:93315
HP:0012632	Abnormal intraocular pressure	4010	LMX1B	ORPHA:2614
HP:0012632	Abnormal intraocular pressure	2202	EFEMP1	OMIM:611276
HP:0012632	Abnormal intraocular pressure	2202	EFEMP1	ORPHA:98977
HP:0012632	Abnormal intraocular pressure	3166	HMX1	OMIM:612109
HP:0012632	Abnormal intraocular pressure	646960	PRSS56	OMIM:613517
HP:0012632	Abnormal intraocular pressure	8314	BAP1	ORPHA:39044
HP:0012632	Abnormal intraocular pressure	57105	CYSLTR2	ORPHA:39044
HP:0012632	Abnormal intraocular pressure	2776	GNAQ	ORPHA:39044
HP:0012632	Abnormal intraocular pressure	2767	GNA11	ORPHA:39044
HP:0012632	Abnormal intraocular pressure	23451	SF3B1	ORPHA:39044
HP:0012632	Abnormal intraocular pressure	136371	ASB10	OMIM:603383
HP:0012632	Abnormal intraocular pressure	3081	HGD	ORPHA:56
HP:0012632	Abnormal intraocular pressure	444	ASPH	OMIM:601552
HP:0012632	Abnormal intraocular pressure	4774	NFIA	ORPHA:401986
HP:0012632	Abnormal intraocular pressure	114902	C1QTNF5	ORPHA:67042
HP:0012632	Abnormal intraocular pressure	30813	VSX1	OMIM:614195
HP:0012632	Abnormal intraocular pressure	30813	VSX1	ORPHA:98973
HP:0012632	Abnormal intraocular pressure	355	FAS	ORPHA:3437
HP:0012632	Abnormal intraocular pressure	26191	PTPN22	ORPHA:3437
HP:0012632	Abnormal intraocular pressure	1545	CYP1B1	OMIM:231300
HP:0012632	Abnormal intraocular pressure	1545	CYP1B1	ORPHA:98976
HP:0012632	Abnormal intraocular pressure	1545	CYP1B1	ORPHA:98977
HP:0012632	Abnormal intraocular pressure	169792	GLIS3	OMIM:610199
HP:0012632	Abnormal intraocular pressure	2301	FOXE3	OMIM:610256
HP:0012632	Abnormal intraocular pressure	4053	LTBP2	ORPHA:98976
HP:0012632	Abnormal intraocular pressure	4053	LTBP2	OMIM:614819
HP:0012632	Abnormal intraocular pressure	4653	MYOC	ORPHA:98976
HP:0012632	Abnormal intraocular pressure	4653	MYOC	ORPHA:98977
HP:0012632	Abnormal intraocular pressure	23516	SLC39A14	OMIM:144755
HP:0012632	Abnormal intraocular pressure	6935	ZEB1	ORPHA:98973
HP:0012632	Abnormal intraocular pressure	58495	OVOL2	ORPHA:98973
HP:0012632	Abnormal intraocular pressure	79977	GRHL2	ORPHA:98973
HP:0012632	Abnormal intraocular pressure	1296	COL8A2	ORPHA:98973
HP:0012632	Abnormal intraocular pressure	91851	CHRDL1	OMIM:309300
HP:0012632	Abnormal intraocular pressure	4016	LOXL1	OMIM:177650
HP:0012633	Asymmetry of intraocular pressure	5309	PITX3	OMIM:107250
HP:0012633	Asymmetry of intraocular pressure	7837	PXDN	OMIM:269400
HP:0012633	Asymmetry of intraocular pressure	3105	HLA-A	ORPHA:179
HP:0012633	Asymmetry of intraocular pressure	7010	TEK	OMIM:617272
HP:0012633	Asymmetry of intraocular pressure	7010	TEK	ORPHA:98976
HP:0012633	Asymmetry of intraocular pressure	170691	ADAMTS17	OMIM:613195
HP:0012633	Asymmetry of intraocular pressure	80781	COL18A1	OMIM:618880
HP:0012633	Asymmetry of intraocular pressure	113189	CHST14	ORPHA:2953
HP:0012633	Asymmetry of intraocular pressure	29940	DSE	ORPHA:2953
HP:0012633	Asymmetry of intraocular pressure	2335	FN1	ORPHA:93315
HP:0012633	Asymmetry of intraocular pressure	1280	COL2A1	ORPHA:93315
HP:0012633	Asymmetry of intraocular pressure	4010	LMX1B	ORPHA:2614
HP:0012633	Asymmetry of intraocular pressure	2202	EFEMP1	OMIM:611276
HP:0012633	Asymmetry of intraocular pressure	2202	EFEMP1	ORPHA:98977
HP:0012633	Asymmetry of intraocular pressure	3166	HMX1	OMIM:612109
HP:0012633	Asymmetry of intraocular pressure	646960	PRSS56	OMIM:613517
HP:0012633	Asymmetry of intraocular pressure	8314	BAP1	ORPHA:39044
HP:0012633	Asymmetry of intraocular pressure	57105	CYSLTR2	ORPHA:39044
HP:0012633	Asymmetry of intraocular pressure	2776	GNAQ	ORPHA:39044
HP:0012633	Asymmetry of intraocular pressure	2767	GNA11	ORPHA:39044
HP:0012633	Asymmetry of intraocular pressure	23451	SF3B1	ORPHA:39044
HP:0012633	Asymmetry of intraocular pressure	136371	ASB10	OMIM:603383
HP:0012633	Asymmetry of intraocular pressure	3081	HGD	ORPHA:56
HP:0012633	Asymmetry of intraocular pressure	444	ASPH	OMIM:601552
HP:0012633	Asymmetry of intraocular pressure	4774	NFIA	ORPHA:401986
HP:0012633	Asymmetry of intraocular pressure	114902	C1QTNF5	ORPHA:67042
HP:0012633	Asymmetry of intraocular pressure	30813	VSX1	OMIM:614195
HP:0012633	Asymmetry of intraocular pressure	30813	VSX1	ORPHA:98973
HP:0012633	Asymmetry of intraocular pressure	355	FAS	ORPHA:3437
HP:0012633	Asymmetry of intraocular pressure	26191	PTPN22	ORPHA:3437
HP:0012633	Asymmetry of intraocular pressure	1545	CYP1B1	OMIM:231300
HP:0012633	Asymmetry of intraocular pressure	1545	CYP1B1	ORPHA:98976
HP:0012633	Asymmetry of intraocular pressure	1545	CYP1B1	ORPHA:98977
HP:0012633	Asymmetry of intraocular pressure	169792	GLIS3	OMIM:610199
HP:0012633	Asymmetry of intraocular pressure	2301	FOXE3	OMIM:610256
HP:0012633	Asymmetry of intraocular pressure	4053	LTBP2	ORPHA:98976
HP:0012633	Asymmetry of intraocular pressure	4053	LTBP2	OMIM:614819
HP:0012633	Asymmetry of intraocular pressure	4653	MYOC	ORPHA:98976
HP:0012633	Asymmetry of intraocular pressure	4653	MYOC	ORPHA:98977
HP:0012633	Asymmetry of intraocular pressure	23516	SLC39A14	OMIM:144755
HP:0012633	Asymmetry of intraocular pressure	6935	ZEB1	ORPHA:98973
HP:0012633	Asymmetry of intraocular pressure	58495	OVOL2	ORPHA:98973
HP:0012633	Asymmetry of intraocular pressure	79977	GRHL2	ORPHA:98973
HP:0012633	Asymmetry of intraocular pressure	1296	COL8A2	ORPHA:98973
HP:0012633	Asymmetry of intraocular pressure	4016	LOXL1	OMIM:177650
HP:0012635	Iris hypoperfusion	4016	LOXL1	OMIM:177650
HP:0012636	Retinal vein occlusion	2161	F12	ORPHA:330
HP:0012636	Retinal vein occlusion	4016	LOXL1	OMIM:177650
HP:0012636	Retinal vein occlusion	462	SERPINC1	ORPHA:82
HP:0012636	Retinal vein occlusion	2202	EFEMP1	ORPHA:98977
HP:0012636	Retinal vein occlusion	1545	CYP1B1	ORPHA:98977
HP:0012636	Retinal vein occlusion	4653	MYOC	ORPHA:98977
HP:0012636	Retinal vein occlusion	51816	ADA2	ORPHA:820
HP:0012637	Renal calcium wasting	149461	CLDN19	OMIM:248190
HP:0012637	Renal calcium wasting	10686	CLDN16	OMIM:248250
HP:0012637	Renal calcium wasting	55811	ADCY10	ORPHA:2197
HP:0012638	Abnormal nervous system physiology	55630	SLC39A4	OMIM:201100
HP:0012638	Abnormal nervous system physiology	6938	TCF12	OMIM:619718
HP:0012638	Abnormal nervous system physiology	4808	NHLH2	OMIM:619755
HP:0012638	Abnormal nervous system physiology	84634	KISS1R	OMIM:614837
HP:0012638	Abnormal nervous system physiology	26012	NSMF	OMIM:614838
HP:0012638	Abnormal nervous system physiology	6866	TAC3	OMIM:614839
HP:0012638	Abnormal nervous system physiology	415	ARSL	OMIM:302950
HP:0012638	Abnormal nervous system physiology	3814	KISS1	OMIM:614842
HP:0012638	Abnormal nervous system physiology	109	ADCY3	OMIM:617885
HP:0012638	Abnormal nervous system physiology	25792	CIZ1	ORPHA:420492
HP:0012638	Abnormal nervous system physiology	2774	GNAL	OMIM:615073
HP:0012638	Abnormal nervous system physiology	2774	GNAL	ORPHA:329466
HP:0012638	Abnormal nervous system physiology	1356	CP	OMIM:604290
HP:0012638	Abnormal nervous system physiology	1356	CP	ORPHA:48818
HP:0012638	Abnormal nervous system physiology	55605	KIF21A	ORPHA:45358
HP:0012638	Abnormal nervous system physiology	401	PHOX2A	ORPHA:45358
HP:0012638	Abnormal nervous system physiology	1303	COL12A1	ORPHA:75840
HP:0012638	Abnormal nervous system physiology	1292	COL6A2	ORPHA:75840
HP:0012638	Abnormal nervous system physiology	1292	COL6A2	OMIM:620727
HP:0012638	Abnormal nervous system physiology	1293	COL6A3	ORPHA:75840
HP:0012638	Abnormal nervous system physiology	1293	COL6A3	OMIM:620728
HP:0012638	Abnormal nervous system physiology	1293	COL6A3	OMIM:616411
HP:0012638	Abnormal nervous system physiology	63982	ANO3	ORPHA:420485
HP:0012638	Abnormal nervous system physiology	63982	ANO3	OMIM:615034
HP:0012638	Abnormal nervous system physiology	116228	COX20	OMIM:619054
HP:0012638	Abnormal nervous system physiology	7703	PCGF2	OMIM:618371
HP:0012638	Abnormal nervous system physiology	1813	DRD2	ORPHA:36899
HP:0012638	Abnormal nervous system physiology	8910	SGCE	ORPHA:36899
HP:0012638	Abnormal nervous system physiology	8910	SGCE	OMIM:159900
HP:0012638	Abnormal nervous system physiology	79734	KCTD17	ORPHA:36899
HP:0012638	Abnormal nervous system physiology	79734	KCTD17	OMIM:616398
HP:0012638	Abnormal nervous system physiology	1267	CNP	OMIM:619071
HP:0012638	Abnormal nervous system physiology	3615	IMPDH2	ORPHA:98808
HP:0012638	Abnormal nervous system physiology	55145	THAP1	ORPHA:98806
HP:0012638	Abnormal nervous system physiology	55145	THAP1	OMIM:602629
HP:0012638	Abnormal nervous system physiology	78989	COLEC11	OMIM:265050
HP:0012638	Abnormal nervous system physiology	4617	MYF5	OMIM:618155
HP:0012638	Abnormal nervous system physiology	23187	PHLDB1	OMIM:620639
HP:0012638	Abnormal nervous system physiology	256472	TMEM151A	OMIM:620245
HP:0012638	Abnormal nervous system physiology	7042	TGFB2	OMIM:614816
HP:0012638	Abnormal nervous system physiology	778	CACNA1F	OMIM:300476
HP:0012638	Abnormal nervous system physiology	778	CACNA1F	ORPHA:1872
HP:0012638	Abnormal nervous system physiology	4166	CHST6	ORPHA:98969
HP:0012638	Abnormal nervous system physiology	4166	CHST6	OMIM:217800
HP:0012638	Abnormal nervous system physiology	2780	GNAT2	OMIM:613856
HP:0012638	Abnormal nervous system physiology	2780	GNAT2	ORPHA:1871
HP:0012638	Abnormal nervous system physiology	2780	GNAT2	ORPHA:49382
HP:0012638	Abnormal nervous system physiology	7045	TGFBI	ORPHA:98962
HP:0012638	Abnormal nervous system physiology	7045	TGFBI	ORPHA:98964
HP:0012638	Abnormal nervous system physiology	7045	TGFBI	ORPHA:98960
HP:0012638	Abnormal nervous system physiology	7045	TGFBI	OMIM:608470
HP:0012638	Abnormal nervous system physiology	7045	TGFBI	OMIM:602082
HP:0012638	Abnormal nervous system physiology	6720	SREBF1	OMIM:158310
HP:0012638	Abnormal nervous system physiology	6720	SREBF1	OMIM:619016
HP:0012638	Abnormal nervous system physiology	1638	DCT	OMIM:619165
HP:0012638	Abnormal nervous system physiology	26504	CNNM4	ORPHA:1873
HP:0012638	Abnormal nervous system physiology	26504	CNNM4	OMIM:217080
HP:0012638	Abnormal nervous system physiology	22926	ATF6	ORPHA:1872
HP:0012638	Abnormal nervous system physiology	22926	ATF6	ORPHA:49382
HP:0012638	Abnormal nervous system physiology	22926	ATF6	OMIM:616517
HP:0012638	Abnormal nervous system physiology	84839	RAX2	ORPHA:1872
HP:0012638	Abnormal nervous system physiology	84839	RAX2	OMIM:610381
HP:0012638	Abnormal nervous system physiology	1261	CNGA3	ORPHA:1872
HP:0012638	Abnormal nervous system physiology	1261	CNGA3	ORPHA:49382
HP:0012638	Abnormal nervous system physiology	1261	CNGA3	OMIM:216900
HP:0012638	Abnormal nervous system physiology	92211	CDHR1	ORPHA:1872
HP:0012638	Abnormal nervous system physiology	92211	CDHR1	OMIM:613660
HP:0012638	Abnormal nervous system physiology	92211	CDHR1	ORPHA:791
HP:0012638	Abnormal nervous system physiology	5956	OPN1LW	ORPHA:1872
HP:0012638	Abnormal nervous system physiology	5956	OPN1LW	OMIM:303700
HP:0012638	Abnormal nervous system physiology	5956	OPN1LW	ORPHA:16
HP:0012638	Abnormal nervous system physiology	8754	ADAM9	ORPHA:1872
HP:0012638	Abnormal nervous system physiology	22999	RIMS1	ORPHA:1872
HP:0012638	Abnormal nervous system physiology	128338	DRAM2	ORPHA:1872
HP:0012638	Abnormal nervous system physiology	128338	DRAM2	OMIM:616502
HP:0012638	Abnormal nervous system physiology	2652	OPN1MW	ORPHA:1872
HP:0012638	Abnormal nervous system physiology	2652	OPN1MW	OMIM:303700
HP:0012638	Abnormal nervous system physiology	2652	OPN1MW	ORPHA:16
HP:0012638	Abnormal nervous system physiology	9094	UNC119	ORPHA:1872
HP:0012638	Abnormal nervous system physiology	9094	UNC119	OMIM:620342
HP:0012638	Abnormal nervous system physiology	93589	CACNA2D4	ORPHA:1872
HP:0012638	Abnormal nervous system physiology	93589	CACNA2D4	OMIM:610478
HP:0012638	Abnormal nervous system physiology	2978	GUCA1A	ORPHA:1872
HP:0012638	Abnormal nervous system physiology	2978	GUCA1A	ORPHA:1871
HP:0012638	Abnormal nervous system physiology	2978	GUCA1A	OMIM:602093
HP:0012638	Abnormal nervous system physiology	282809	POC1B	ORPHA:1872
HP:0012638	Abnormal nervous system physiology	83394	PITPNM3	ORPHA:1872
HP:0012638	Abnormal nervous system physiology	83394	PITPNM3	OMIM:600977
HP:0012638	Abnormal nervous system physiology	23093	TTLL5	ORPHA:1872
HP:0012638	Abnormal nervous system physiology	83723	TLCD3B	ORPHA:1872
HP:0012638	Abnormal nervous system physiology	83723	TLCD3B	OMIM:619531
HP:0012638	Abnormal nervous system physiology	9364	RAB28	ORPHA:1872
HP:0012638	Abnormal nervous system physiology	5146	PDE6C	ORPHA:1871
HP:0012638	Abnormal nervous system physiology	5146	PDE6C	OMIM:613093
HP:0012638	Abnormal nervous system physiology	5146	PDE6C	ORPHA:49382
HP:0012638	Abnormal nervous system physiology	169522	KCNV2	OMIM:610356
HP:0012638	Abnormal nervous system physiology	4070	TACSTD2	ORPHA:98957
HP:0012638	Abnormal nervous system physiology	4070	TACSTD2	OMIM:204870
HP:0012638	Abnormal nervous system physiology	200576	PIKFYVE	OMIM:121850
HP:0012638	Abnormal nervous system physiology	63915	BLOC1S5	OMIM:619172
HP:0012638	Abnormal nervous system physiology	3105	HLA-A	ORPHA:179
HP:0012638	Abnormal nervous system physiology	283652	SLC24A5	OMIM:113750
HP:0012638	Abnormal nervous system physiology	283652	SLC24A5	ORPHA:370097
HP:0012638	Abnormal nervous system physiology	3850	KRT3	OMIM:618767
HP:0012638	Abnormal nervous system physiology	80326	WNT10A	OMIM:257980
HP:0012638	Abnormal nervous system physiology	80326	WNT10A	OMIM:150400
HP:0012638	Abnormal nervous system physiology	1420	CRYGC	OMIM:604307
HP:0012638	Abnormal nervous system physiology	5333	PLCD1	ORPHA:2387
HP:0012638	Abnormal nervous system physiology	1474	CST6	OMIM:618535
HP:0012638	Abnormal nervous system physiology	7855	FZD5	OMIM:620731
HP:0012638	Abnormal nervous system physiology	5149	PDE6H	OMIM:610024
HP:0012638	Abnormal nervous system physiology	5149	PDE6H	ORPHA:49382
HP:0012638	Abnormal nervous system physiology	6017	RLBP1	ORPHA:52427
HP:0012638	Abnormal nervous system physiology	6017	RLBP1	ORPHA:791
HP:0012638	Abnormal nervous system physiology	6010	RHO	ORPHA:52427
HP:0012638	Abnormal nervous system physiology	6010	RHO	ORPHA:791
HP:0012638	Abnormal nervous system physiology	5959	RDH5	ORPHA:52427
HP:0012638	Abnormal nervous system physiology	3859	KRT12	OMIM:122100
HP:0012638	Abnormal nervous system physiology	10002	NR2E3	OMIM:611131
HP:0012638	Abnormal nervous system physiology	10002	NR2E3	ORPHA:791
HP:0012638	Abnormal nervous system physiology	83938	LRMDA	OMIM:615179
HP:0012638	Abnormal nervous system physiology	1634	DCN	OMIM:610048
HP:0012638	Abnormal nervous system physiology	2303	FOXC2	ORPHA:33001
HP:0012638	Abnormal nervous system physiology	2303	FOXC2	OMIM:153400
HP:0012638	Abnormal nervous system physiology	5429	POLH	ORPHA:90342
HP:0012638	Abnormal nervous system physiology	5429	POLH	OMIM:278750
HP:0012638	Abnormal nervous system physiology	4935	GPR143	ORPHA:54
HP:0012638	Abnormal nervous system physiology	4935	GPR143	OMIM:300500
HP:0012638	Abnormal nervous system physiology	58495	OVOL2	OMIM:122000
HP:0012638	Abnormal nervous system physiology	58495	OVOL2	ORPHA:98973
HP:0012638	Abnormal nervous system physiology	1545	CYP1B1	ORPHA:98976
HP:0012638	Abnormal nervous system physiology	4653	MYOC	ORPHA:98976
HP:0012638	Abnormal nervous system physiology	7010	TEK	ORPHA:98976
HP:0012638	Abnormal nervous system physiology	6935	ZEB1	ORPHA:98973
HP:0012638	Abnormal nervous system physiology	1296	COL8A2	ORPHA:98973
HP:0012638	Abnormal nervous system physiology	51151	SLC45A2	ORPHA:79435
HP:0012638	Abnormal nervous system physiology	92840	REEP6	ORPHA:791
HP:0012638	Abnormal nervous system physiology	6094	ROM1	ORPHA:791
HP:0012638	Abnormal nervous system physiology	130557	ZNF513	ORPHA:791
HP:0012638	Abnormal nervous system physiology	23568	ARL2BP	ORPHA:791
HP:0012638	Abnormal nervous system physiology	6101	RP1	ORPHA:791
HP:0012638	Abnormal nervous system physiology	3419	IDH3A	ORPHA:791
HP:0012638	Abnormal nervous system physiology	4751	NEK2	ORPHA:791
HP:0012638	Abnormal nervous system physiology	346007	EYS	ORPHA:791
HP:0012638	Abnormal nervous system physiology	346007	EYS	OMIM:602772
HP:0012638	Abnormal nervous system physiology	8100	IFT88	ORPHA:791
HP:0012638	Abnormal nervous system physiology	23020	SNRNP200	ORPHA:791
HP:0012638	Abnormal nervous system physiology	762	CA4	ORPHA:791
HP:0012638	Abnormal nervous system physiology	196	AHR	ORPHA:791
HP:0012638	Abnormal nervous system physiology	5148	PDE6G	ORPHA:791
HP:0012638	Abnormal nervous system physiology	26121	PRPF31	ORPHA:791
HP:0012638	Abnormal nervous system physiology	4117	MAK	ORPHA:791
HP:0012638	Abnormal nervous system physiology	25794	FSCN2	ORPHA:791
HP:0012638	Abnormal nervous system physiology	375298	CERKL	ORPHA:791
HP:0012638	Abnormal nervous system physiology	3420	IDH3B	ORPHA:791
HP:0012638	Abnormal nervous system physiology	57670	KIAA1549	ORPHA:791
HP:0012638	Abnormal nervous system physiology	7275	TUB	ORPHA:791
HP:0012638	Abnormal nervous system physiology	24148	PRPF6	ORPHA:791
HP:0012638	Abnormal nervous system physiology	10461	MERTK	ORPHA:791
HP:0012638	Abnormal nervous system physiology	57709	SLC7A14	ORPHA:791
HP:0012638	Abnormal nervous system physiology	768206	PRCD	ORPHA:791
HP:0012638	Abnormal nervous system physiology	23370	ARHGEF18	ORPHA:791
HP:0012638	Abnormal nervous system physiology	5949	RBP3	ORPHA:791
HP:0012638	Abnormal nervous system physiology	6100	RP9	ORPHA:791
HP:0012638	Abnormal nervous system physiology	84140	FAM161A	ORPHA:791
HP:0012638	Abnormal nervous system physiology	5145	PDE6A	ORPHA:791
HP:0012638	Abnormal nervous system physiology	9128	PRPF4	ORPHA:791
HP:0012638	Abnormal nervous system physiology	50939	IMPG2	ORPHA:791
HP:0012638	Abnormal nervous system physiology	2979	GUCA1B	ORPHA:791
HP:0012638	Abnormal nervous system physiology	1259	CNGA1	ORPHA:791
HP:0012638	Abnormal nervous system physiology	1258	CNGB1	ORPHA:791
HP:0012638	Abnormal nervous system physiology	60509	AGBL5	ORPHA:791
HP:0012638	Abnormal nervous system physiology	388939	PCARE	ORPHA:791
HP:0012638	Abnormal nervous system physiology	7439	BEST1	ORPHA:791
HP:0012638	Abnormal nervous system physiology	9785	DHX38	ORPHA:791
HP:0012638	Abnormal nervous system physiology	5995	RGR	ORPHA:791
HP:0012638	Abnormal nervous system physiology	9129	PRPF3	ORPHA:791
HP:0012638	Abnormal nervous system physiology	3617	IMPG1	ORPHA:791
HP:0012638	Abnormal nervous system physiology	94137	RP1L1	ORPHA:791
HP:0012638	Abnormal nervous system physiology	5158	PDE6B	ORPHA:791
HP:0012638	Abnormal nervous system physiology	6102	RP2	ORPHA:791
HP:0012638	Abnormal nervous system physiology	55857	KIZ	ORPHA:791
HP:0012638	Abnormal nervous system physiology	4901	NRL	ORPHA:791
HP:0012638	Abnormal nervous system physiology	10594	PRPF8	ORPHA:791
HP:0012638	Abnormal nervous system physiology	6295	SAG	ORPHA:791
HP:0012638	Abnormal nervous system physiology	8787	RGS9	OMIM:608415
HP:0012638	Abnormal nervous system physiology	8787	RGS9	ORPHA:75374
HP:0012638	Abnormal nervous system physiology	114902	C1QTNF5	ORPHA:67042
HP:0012638	Abnormal nervous system physiology	83552	MFRP	OMIM:611040
HP:0012638	Abnormal nervous system physiology	22861	NLRP1	OMIM:617388
HP:0012638	Abnormal nervous system physiology	2784	GNB3	OMIM:617024
HP:0012638	Abnormal nervous system physiology	11190	CEP250	OMIM:618358
HP:0012638	Abnormal nervous system physiology	611	OPN1SW	ORPHA:88629
HP:0012638	Abnormal nervous system physiology	6768	ST14	OMIM:602400
HP:0012638	Abnormal nervous system physiology	2202	EFEMP1	ORPHA:75376
HP:0012638	Abnormal nervous system physiology	388531	RGS9BP	ORPHA:75374
HP:0012638	Abnormal nervous system physiology	388531	RGS9BP	OMIM:620344
HP:0012638	Abnormal nervous system physiology	2296	FOXC1	ORPHA:250923
HP:0012638	Abnormal nervous system physiology	54765	TRIM44	ORPHA:250923
HP:0012638	Abnormal nervous system physiology	3257	HPS1	OMIM:203300
HP:0012638	Abnormal nervous system physiology	1308	COL17A1	ORPHA:293381
HP:0012638	Abnormal nervous system physiology	1308	COL17A1	OMIM:122400
HP:0012638	Abnormal nervous system physiology	23155	CLCC1	OMIM:609913
HP:0012638	Abnormal nervous system physiology	8842	PROM1	ORPHA:827
HP:0012638	Abnormal nervous system physiology	5961	PRPH2	ORPHA:827
HP:0012638	Abnormal nervous system physiology	24	ABCA4	ORPHA:827
HP:0012638	Abnormal nervous system physiology	54714	CNGB3	ORPHA:827
HP:0012638	Abnormal nervous system physiology	7299	TYR	ORPHA:79431
HP:0012638	Abnormal nervous system physiology	4125	MAN2B1	ORPHA:309282
HP:0012638	Abnormal nervous system physiology	4125	MAN2B1	ORPHA:309288
HP:0012638	Abnormal nervous system physiology	134218	DNAJC21	ORPHA:811
HP:0012638	Abnormal nervous system physiology	79631	EFL1	ORPHA:811
HP:0012638	Abnormal nervous system physiology	51119	SBDS	ORPHA:811
HP:0012638	Abnormal nervous system physiology	3034	HAL	ORPHA:2157
HP:0012638	Abnormal nervous system physiology	3973	LHCGR	ORPHA:3000
HP:0012638	Abnormal nervous system physiology	54476	RNF216	ORPHA:1173
HP:0012638	Abnormal nervous system physiology	4035	LRP1	ORPHA:79100
HP:0012638	Abnormal nervous system physiology	2324	FLT4	ORPHA:79452
HP:0012638	Abnormal nervous system physiology	9780	PIEZO1	ORPHA:79452
HP:0012638	Abnormal nervous system physiology	285	ANGPT2	ORPHA:79452
HP:0012638	Abnormal nervous system physiology	51085	MLXIPL	OMIM:194050
HP:0012638	Abnormal nervous system physiology	57192	MCOLN1	ORPHA:578
HP:0012638	Abnormal nervous system physiology	2245	FGD1	ORPHA:915
HP:0012638	Abnormal nervous system physiology	3479	IGF1	ORPHA:73272
HP:0012638	Abnormal nervous system physiology	50940	PDE11A	ORPHA:1359
HP:0012638	Abnormal nervous system physiology	1737	DLAT	ORPHA:79244
HP:0012638	Abnormal nervous system physiology	23389	MED13L	ORPHA:369891
HP:0012638	Abnormal nervous system physiology	9496	TBX4	ORPHA:261279
HP:0012638	Abnormal nervous system physiology	389856	USP27X	OMIM:300984
HP:0012638	Abnormal nervous system physiology	80185	TTI2	ORPHA:391307
HP:0012638	Abnormal nervous system physiology	10664	CTCF	ORPHA:363611
HP:0012638	Abnormal nervous system physiology	4810	NHS	ORPHA:627
HP:0012638	Abnormal nervous system physiology	407975	MIR17HG	ORPHA:391646
HP:0012638	Abnormal nervous system physiology	1540	CYLD	OMIM:619132
HP:0012638	Abnormal nervous system physiology	9203	ZMYM3	OMIM:301111
HP:0012638	Abnormal nervous system physiology	2036	EPB41L1	OMIM:614257
HP:0012638	Abnormal nervous system physiology	2328	FMO3	ORPHA:468726
HP:0012638	Abnormal nervous system physiology	2947	GSTM3	ORPHA:586
HP:0012638	Abnormal nervous system physiology	1084	CEACAM3	ORPHA:586
HP:0012638	Abnormal nervous system physiology	6556	SLC11A1	ORPHA:586
HP:0012638	Abnormal nervous system physiology	51164	DCTN4	ORPHA:586
HP:0012638	Abnormal nervous system physiology	3783	KCNN4	ORPHA:586
HP:0012638	Abnormal nervous system physiology	4282	MIF	ORPHA:586
HP:0012638	Abnormal nervous system physiology	6550	SLC9A3	ORPHA:586
HP:0012638	Abnormal nervous system physiology	115019	SLC26A9	ORPHA:586
HP:0012638	Abnormal nervous system physiology	11254	SLC6A14	ORPHA:586
HP:0012638	Abnormal nervous system physiology	5265	SERPINA1	ORPHA:586
HP:0012638	Abnormal nervous system physiology	1080	CFTR	ORPHA:586
HP:0012638	Abnormal nervous system physiology	22802	CLCA4	ORPHA:586
HP:0012638	Abnormal nervous system physiology	4680	CEACAM6	ORPHA:586
HP:0012638	Abnormal nervous system physiology	2289	FKBP5	OMIM:608516
HP:0012638	Abnormal nervous system physiology	10046	MAMLD1	ORPHA:95706
HP:0012638	Abnormal nervous system physiology	6532	SLC6A4	OMIM:164230
HP:0012638	Abnormal nervous system physiology	1471	CST3	OMIM:105150
HP:0012638	Abnormal nervous system physiology	6909	TBX2	OMIM:618223
HP:0012638	Abnormal nervous system physiology	23414	ZFPM2	OMIM:616067
HP:0012638	Abnormal nervous system physiology	105371045	PERCC1	ORPHA:92050
HP:0012638	Abnormal nervous system physiology	55687	TRMU	OMIM:613070
HP:0012638	Abnormal nervous system physiology	84133	ZNRF3	ORPHA:1501
HP:0012638	Abnormal nervous system physiology	3043	HBB	ORPHA:231214
HP:0012638	Abnormal nervous system physiology	3043	HBB	ORPHA:231226
HP:0012638	Abnormal nervous system physiology	551	AVP	ORPHA:30925
HP:0012638	Abnormal nervous system physiology	2620	GAS2	OMIM:620877
HP:0012638	Abnormal nervous system physiology	695	BTK	OMIM:300755
HP:0012638	Abnormal nervous system physiology	2019	EN1	OMIM:619218
HP:0012638	Abnormal nervous system physiology	63931	MRPS14	OMIM:618378
HP:0012638	Abnormal nervous system physiology	51082	POLR1D	OMIM:613717
HP:0012638	Abnormal nervous system physiology	51082	POLR1D	ORPHA:861
HP:0012638	Abnormal nervous system physiology	340990	OTOG	OMIM:614945
HP:0012638	Abnormal nervous system physiology	3199	HOXA2	ORPHA:83463
HP:0012638	Abnormal nervous system physiology	56984	PSMG2	OMIM:619183
HP:0012638	Abnormal nervous system physiology	89891	DYNC2I2	OMIM:615633
HP:0012638	Abnormal nervous system physiology	90161	HS6ST2	OMIM:301025
HP:0012638	Abnormal nervous system physiology	6678	SPARC	OMIM:616507
HP:0012638	Abnormal nervous system physiology	79853	TM4SF20	OMIM:615432
HP:0012638	Abnormal nervous system physiology	27034	ACAD8	ORPHA:79159
HP:0012638	Abnormal nervous system physiology	91452	ACBD5	OMIM:618863
HP:0012638	Abnormal nervous system physiology	10054	UBA2	OMIM:619959
HP:0012638	Abnormal nervous system physiology	23184	MESD	OMIM:618644
HP:0012638	Abnormal nervous system physiology	25981	DNAH1	ORPHA:244
HP:0012638	Abnormal nervous system physiology	115948	ODAD3	ORPHA:244
HP:0012638	Abnormal nervous system physiology	54768	HYDIN	ORPHA:244
HP:0012638	Abnormal nervous system physiology	352909	DNAAF3	ORPHA:244
HP:0012638	Abnormal nervous system physiology	27148	STK36	ORPHA:244
HP:0012638	Abnormal nervous system physiology	51314	NME8	ORPHA:244
HP:0012638	Abnormal nervous system physiology	92749	DRC1	ORPHA:244
HP:0012638	Abnormal nervous system physiology	54970	TTC12	ORPHA:244
HP:0012638	Abnormal nervous system physiology	152110	NEK10	ORPHA:244
HP:0012638	Abnormal nervous system physiology	2302	FOXJ1	ORPHA:244
HP:0012638	Abnormal nervous system physiology	221421	RSPH9	ORPHA:244
HP:0012638	Abnormal nervous system physiology	85478	CCDC65	ORPHA:244
HP:0012638	Abnormal nervous system physiology	55036	CCDC40	ORPHA:244
HP:0012638	Abnormal nervous system physiology	51364	ZMYND10	ORPHA:244
HP:0012638	Abnormal nervous system physiology	64446	DNAI2	ORPHA:244
HP:0012638	Abnormal nervous system physiology	8382	NME5	ORPHA:244
HP:0012638	Abnormal nervous system physiology	6674	SPAG1	ORPHA:244
HP:0012638	Abnormal nervous system physiology	83544	DNAL1	ORPHA:244
HP:0012638	Abnormal nervous system physiology	89765	RSPH1	ORPHA:244
HP:0012638	Abnormal nervous system physiology	83538	ODAD4	ORPHA:244
HP:0012638	Abnormal nervous system physiology	200373	CFAP221	ORPHA:244
HP:0012638	Abnormal nervous system physiology	374407	DNAJB13	ORPHA:244
HP:0012638	Abnormal nervous system physiology	55172	DNAAF2	ORPHA:244
HP:0012638	Abnormal nervous system physiology	2622	GAS8	ORPHA:244
HP:0012638	Abnormal nervous system physiology	23639	DNAAF11	ORPHA:244
HP:0012638	Abnormal nervous system physiology	345895	RSPH4A	ORPHA:244
HP:0012638	Abnormal nervous system physiology	54919	DNAAF5	ORPHA:244
HP:0012638	Abnormal nervous system physiology	6103	RPGR	ORPHA:244
HP:0012638	Abnormal nervous system physiology	85452	CFAP74	ORPHA:244
HP:0012638	Abnormal nervous system physiology	93233	ODAD1	ORPHA:244
HP:0012638	Abnormal nervous system physiology	55130	ODAD2	ORPHA:244
HP:0012638	Abnormal nervous system physiology	1767	DNAH5	ORPHA:244
HP:0012638	Abnormal nervous system physiology	83861	RSPH3	ORPHA:244
HP:0012638	Abnormal nervous system physiology	345643	MCIDAS	ORPHA:244
HP:0012638	Abnormal nervous system physiology	56683	CFAP298	ORPHA:244
HP:0012638	Abnormal nervous system physiology	79925	SPEF2	ORPHA:244
HP:0012638	Abnormal nervous system physiology	10309	CCNO	ORPHA:244
HP:0012638	Abnormal nervous system physiology	115399	LRRC56	ORPHA:244
HP:0012638	Abnormal nervous system physiology	139212	DNAAF6	ORPHA:244
HP:0012638	Abnormal nervous system physiology	123872	DNAAF1	ORPHA:244
HP:0012638	Abnormal nervous system physiology	85016	CFAP300	ORPHA:244
HP:0012638	Abnormal nervous system physiology	339829	CCDC39	ORPHA:244
HP:0012638	Abnormal nervous system physiology	8701	DNAH11	ORPHA:244
HP:0012638	Abnormal nervous system physiology	1770	DNAH9	ORPHA:244
HP:0012638	Abnormal nervous system physiology	246176	GAS2L2	ORPHA:244
HP:0012638	Abnormal nervous system physiology	6477	SIAH1	OMIM:619314
HP:0012638	Abnormal nervous system physiology	161725	OTUD7A	OMIM:620790
HP:0012638	Abnormal nervous system physiology	64858	DCLRE1B	OMIM:620133
HP:0012638	Abnormal nervous system physiology	55503	TRPV6	OMIM:618188
HP:0012638	Abnormal nervous system physiology	2615	LRRC32	OMIM:619074
HP:0012638	Abnormal nervous system physiology	1028	CDKN1C	ORPHA:397590
HP:0012638	Abnormal nervous system physiology	5324	PLAG1	ORPHA:397590
HP:0012638	Abnormal nervous system physiology	286262	TPRN	OMIM:613307
HP:0012638	Abnormal nervous system physiology	51244	CCDC174	OMIM:616816
HP:0012638	Abnormal nervous system physiology	9775	EIF4A3	OMIM:268305
HP:0012638	Abnormal nervous system physiology	27152	INTU	OMIM:617926
HP:0012638	Abnormal nervous system physiology	10484	SEC23A	ORPHA:50814
HP:0012638	Abnormal nervous system physiology	55603	TENT5A	OMIM:617952
HP:0012638	Abnormal nervous system physiology	26007	TKFC	OMIM:618805
HP:0012638	Abnormal nervous system physiology	5257	PHKB	ORPHA:79240
HP:0012638	Abnormal nervous system physiology	4848	CNOT2	OMIM:618608
HP:0012638	Abnormal nervous system physiology	1815	DRD4	OMIM:143465
HP:0012638	Abnormal nervous system physiology	1816	DRD5	OMIM:143465
HP:0012638	Abnormal nervous system physiology	9639	ARHGEF10	OMIM:608236
HP:0012638	Abnormal nervous system physiology	9150	CTDP1	ORPHA:48431
HP:0012638	Abnormal nervous system physiology	1311	COMP	OMIM:177170
HP:0012638	Abnormal nervous system physiology	23204	ARL6IP1	OMIM:615685
HP:0012638	Abnormal nervous system physiology	7518	XRCC4	OMIM:616541
HP:0012638	Abnormal nervous system physiology	1384	CRAT	OMIM:617917
HP:0012638	Abnormal nervous system physiology	667	DST	OMIM:614653
HP:0012638	Abnormal nervous system physiology	79158	GNPTAB	OMIM:252600
HP:0012638	Abnormal nervous system physiology	51256	TBC1D7	OMIM:248000
HP:0012638	Abnormal nervous system physiology	51099	ABHD5	OMIM:275630
HP:0012638	Abnormal nervous system physiology	283489	CHAMP1	OMIM:616579
HP:0012638	Abnormal nervous system physiology	10111	RAD50	OMIM:613078
HP:0012638	Abnormal nervous system physiology	4313	MMP2	ORPHA:371428
HP:0012638	Abnormal nervous system physiology	4323	MMP14	ORPHA:371428
HP:0012638	Abnormal nervous system physiology	1280	COL2A1	ORPHA:90653
HP:0012638	Abnormal nervous system physiology	1280	COL2A1	OMIM:184250
HP:0012638	Abnormal nervous system physiology	1280	COL2A1	ORPHA:85198
HP:0012638	Abnormal nervous system physiology	8036	SHOC2	ORPHA:2701
HP:0012638	Abnormal nervous system physiology	8036	SHOC2	OMIM:607721
HP:0012638	Abnormal nervous system physiology	5500	PPP1CB	ORPHA:2701
HP:0012638	Abnormal nervous system physiology	89910	UBE3B	ORPHA:2707
HP:0012638	Abnormal nervous system physiology	1187	CLCNKA	OMIM:613090
HP:0012638	Abnormal nervous system physiology	8493	PPM1D	OMIM:617450
HP:0012638	Abnormal nervous system physiology	23512	SUZ12	OMIM:618786
HP:0012638	Abnormal nervous system physiology	23512	SUZ12	ORPHA:3447
HP:0012638	Abnormal nervous system physiology	6654	SOS1	OMIM:135300
HP:0012638	Abnormal nervous system physiology	6654	SOS1	OMIM:610733
HP:0012638	Abnormal nervous system physiology	6654	SOS1	ORPHA:648
HP:0012638	Abnormal nervous system physiology	6885	MAP3K7	ORPHA:1826
HP:0012638	Abnormal nervous system physiology	56246	MRAP	ORPHA:361
HP:0012638	Abnormal nervous system physiology	6770	STAR	ORPHA:361
HP:0012638	Abnormal nervous system physiology	10587	TXNRD2	ORPHA:361
HP:0012638	Abnormal nervous system physiology	1523	CUX1	OMIM:618330
HP:0012638	Abnormal nervous system physiology	3480	IGF1R	ORPHA:73273
HP:0012638	Abnormal nervous system physiology	3480	IGF1R	OMIM:270450
HP:0012638	Abnormal nervous system physiology	54517	PUS7	OMIM:618342
HP:0012638	Abnormal nervous system physiology	90459	ERI1	OMIM:620663
HP:0012638	Abnormal nervous system physiology	90459	ERI1	OMIM:620662
HP:0012638	Abnormal nervous system physiology	144165	PRICKLE1	ORPHA:308
HP:0012638	Abnormal nervous system physiology	7038	TG	OMIM:274700
HP:0012638	Abnormal nervous system physiology	7038	TG	ORPHA:95716
HP:0012638	Abnormal nervous system physiology	27125	AFF4	ORPHA:444077
HP:0012638	Abnormal nervous system physiology	27125	AFF4	OMIM:616368
HP:0012638	Abnormal nervous system physiology	55262	TRAPPC14	OMIM:618351
HP:0012638	Abnormal nervous system physiology	23043	TNIK	OMIM:617028
HP:0012638	Abnormal nervous system physiology	2334	AFF2	OMIM:309548
HP:0012638	Abnormal nervous system physiology	2334	AFF2	ORPHA:100973
HP:0012638	Abnormal nervous system physiology	56776	FMN2	OMIM:616193
HP:0012638	Abnormal nervous system physiology	7086	TKT	OMIM:617044
HP:0012638	Abnormal nervous system physiology	2707	GJB3	ORPHA:317
HP:0012638	Abnormal nervous system physiology	2531	KDSR	ORPHA:317
HP:0012638	Abnormal nervous system physiology	127534	GJB4	ORPHA:317
HP:0012638	Abnormal nervous system physiology	5184	PEPD	ORPHA:742
HP:0012638	Abnormal nervous system physiology	10283	CWC27	ORPHA:166035
HP:0012638	Abnormal nervous system physiology	10283	CWC27	OMIM:250410
HP:0012638	Abnormal nervous system physiology	1457	CSNK2A1	OMIM:617062
HP:0012638	Abnormal nervous system physiology	203068	TUBB	OMIM:156610
HP:0012638	Abnormal nervous system physiology	203068	TUBB	ORPHA:2505
HP:0012638	Abnormal nervous system physiology	89970	RSPRY1	ORPHA:457395
HP:0012638	Abnormal nervous system physiology	89970	RSPRY1	OMIM:616723
HP:0012638	Abnormal nervous system physiology	7474	WNT5A	OMIM:180700
HP:0012638	Abnormal nervous system physiology	7474	WNT5A	ORPHA:3107
HP:0012638	Abnormal nervous system physiology	128	ADH5	OMIM:619151
HP:0012638	Abnormal nervous system physiology	80254	CEP63	OMIM:614728
HP:0012638	Abnormal nervous system physiology	672	BRCA1	ORPHA:84
HP:0012638	Abnormal nervous system physiology	672	BRCA1	OMIM:617883
HP:0012638	Abnormal nervous system physiology	10459	MAD2L2	ORPHA:84
HP:0012638	Abnormal nervous system physiology	7516	XRCC2	ORPHA:84
HP:0012638	Abnormal nervous system physiology	29089	UBE2T	ORPHA:84
HP:0012638	Abnormal nervous system physiology	55120	FANCL	ORPHA:84
HP:0012638	Abnormal nervous system physiology	2177	FANCD2	ORPHA:84
HP:0012638	Abnormal nervous system physiology	2177	FANCD2	OMIM:227646
HP:0012638	Abnormal nervous system physiology	2175	FANCA	ORPHA:84
HP:0012638	Abnormal nervous system physiology	2175	FANCA	OMIM:227650
HP:0012638	Abnormal nervous system physiology	2187	FANCB	ORPHA:84
HP:0012638	Abnormal nervous system physiology	2187	FANCB	OMIM:300514
HP:0012638	Abnormal nervous system physiology	2187	FANCB	ORPHA:3412
HP:0012638	Abnormal nervous system physiology	2176	FANCC	ORPHA:84
HP:0012638	Abnormal nervous system physiology	2176	FANCC	OMIM:227645
HP:0012638	Abnormal nervous system physiology	2178	FANCE	ORPHA:84
HP:0012638	Abnormal nervous system physiology	2178	FANCE	OMIM:600901
HP:0012638	Abnormal nervous system physiology	2188	FANCF	ORPHA:84
HP:0012638	Abnormal nervous system physiology	2189	FANCG	ORPHA:84
HP:0012638	Abnormal nervous system physiology	5889	RAD51C	ORPHA:84
HP:0012638	Abnormal nervous system physiology	55159	RFWD3	ORPHA:84
HP:0012638	Abnormal nervous system physiology	83990	BRIP1	ORPHA:84
HP:0012638	Abnormal nervous system physiology	57697	FANCM	ORPHA:84
HP:0012638	Abnormal nervous system physiology	79728	PALB2	ORPHA:84
HP:0012638	Abnormal nervous system physiology	84464	SLX4	ORPHA:84
HP:0012638	Abnormal nervous system physiology	55215	FANCI	ORPHA:84
HP:0012638	Abnormal nervous system physiology	10555	AGPAT2	OMIM:608594
HP:0012638	Abnormal nervous system physiology	10555	AGPAT2	ORPHA:528
HP:0012638	Abnormal nervous system physiology	6999	TDO2	OMIM:600627
HP:0012638	Abnormal nervous system physiology	3070	HELLS	OMIM:616911
HP:0012638	Abnormal nervous system physiology	3070	HELLS	ORPHA:2268
HP:0012638	Abnormal nervous system physiology	83879	CDCA7	OMIM:616910
HP:0012638	Abnormal nervous system physiology	83879	CDCA7	ORPHA:2268
HP:0012638	Abnormal nervous system physiology	9653	HS2ST1	OMIM:619194
HP:0012638	Abnormal nervous system physiology	64327	LMBR1	ORPHA:2378
HP:0012638	Abnormal nervous system physiology	6473	SHOX	OMIM:249700
HP:0012638	Abnormal nervous system physiology	6949	TCOF1	OMIM:154500
HP:0012638	Abnormal nervous system physiology	1062	CENPE	ORPHA:808
HP:0012638	Abnormal nervous system physiology	5932	RBBP8	ORPHA:808
HP:0012638	Abnormal nervous system physiology	5932	RBBP8	OMIM:251255
HP:0012638	Abnormal nervous system physiology	84126	ATRIP	ORPHA:808
HP:0012638	Abnormal nervous system physiology	10293	TRAIP	ORPHA:808
HP:0012638	Abnormal nervous system physiology	1763	DNA2	ORPHA:808
HP:0012638	Abnormal nervous system physiology	1763	DNA2	OMIM:615807
HP:0012638	Abnormal nervous system physiology	200403	VWA3B	OMIM:616948
HP:0012638	Abnormal nervous system physiology	226	ALDOA	ORPHA:57
HP:0012638	Abnormal nervous system physiology	226	ALDOA	OMIM:611881
HP:0012638	Abnormal nervous system physiology	22856	CHSY1	ORPHA:363417
HP:0012638	Abnormal nervous system physiology	8092	ALX1	OMIM:613456
HP:0012638	Abnormal nervous system physiology	8092	ALX1	ORPHA:306542
HP:0012638	Abnormal nervous system physiology	5447	POR	OMIM:207410
HP:0012638	Abnormal nervous system physiology	10413	YAP1	ORPHA:1473
HP:0012638	Abnormal nervous system physiology	10413	YAP1	OMIM:120433
HP:0012638	Abnormal nervous system physiology	7200	TRH	OMIM:275120
HP:0012638	Abnormal nervous system physiology	2821	GPI	OMIM:613470
HP:0012638	Abnormal nervous system physiology	134701	RIPPLY2	ORPHA:2311
HP:0012638	Abnormal nervous system physiology	10683	DLL3	ORPHA:2311
HP:0012638	Abnormal nervous system physiology	3955	LFNG	ORPHA:2311
HP:0012638	Abnormal nervous system physiology	84667	HES7	ORPHA:2311
HP:0012638	Abnormal nervous system physiology	145873	MESP2	ORPHA:2311
HP:0012638	Abnormal nervous system physiology	2138	EYA1	ORPHA:2792
HP:0012638	Abnormal nervous system physiology	5075	PAX1	ORPHA:2792
HP:0012638	Abnormal nervous system physiology	157570	ESCO2	ORPHA:2319
HP:0012638	Abnormal nervous system physiology	157570	ESCO2	OMIM:268300
HP:0012638	Abnormal nervous system physiology	157570	ESCO2	OMIM:216100
HP:0012638	Abnormal nervous system physiology	157570	ESCO2	ORPHA:3103
HP:0012638	Abnormal nervous system physiology	197131	UBR1	ORPHA:2315
HP:0012638	Abnormal nervous system physiology	197131	UBR1	OMIM:243800
HP:0012638	Abnormal nervous system physiology	64840	PORCN	OMIM:305600
HP:0012638	Abnormal nervous system physiology	55180	LINS1	OMIM:614340
HP:0012638	Abnormal nervous system physiology	8022	LHX3	OMIM:221750
HP:0012638	Abnormal nervous system physiology	1836	SLC26A2	OMIM:222600
HP:0012638	Abnormal nervous system physiology	22796	COG2	ORPHA:435934
HP:0012638	Abnormal nervous system physiology	953	ENTPD1	OMIM:615683
HP:0012638	Abnormal nervous system physiology	9076	CLDN1	OMIM:607626
HP:0012638	Abnormal nervous system physiology	387	RHOA	OMIM:618727
HP:0012638	Abnormal nervous system physiology	8086	AAAS	OMIM:231550
HP:0012638	Abnormal nervous system physiology	8086	AAAS	ORPHA:869
HP:0012638	Abnormal nervous system physiology	64131	XYLT1	ORPHA:1425
HP:0012638	Abnormal nervous system physiology	64131	XYLT1	OMIM:615777
HP:0012638	Abnormal nervous system physiology	124583	CANT1	ORPHA:1425
HP:0012638	Abnormal nervous system physiology	124583	CANT1	OMIM:251450
HP:0012638	Abnormal nervous system physiology	55790	CSGALNACT1	ORPHA:1425
HP:0012638	Abnormal nervous system physiology	2182	ACSL4	OMIM:300387
HP:0012638	Abnormal nervous system physiology	83452	RAB33B	OMIM:615222
HP:0012638	Abnormal nervous system physiology	7545	ZIC1	OMIM:618736
HP:0012638	Abnormal nervous system physiology	7545	ZIC1	ORPHA:35099
HP:0012638	Abnormal nervous system physiology	1460	CSNK2B	OMIM:618732
HP:0012638	Abnormal nervous system physiology	246329	STAC3	OMIM:255995
HP:0012638	Abnormal nervous system physiology	8294	H4C9	OMIM:619951
HP:0012638	Abnormal nervous system physiology	9853	RUSC2	OMIM:617773
HP:0012638	Abnormal nervous system physiology	6873	TAF2	OMIM:615599
HP:0012638	Abnormal nervous system physiology	6873	TAF2	ORPHA:397951
HP:0012638	Abnormal nervous system physiology	1947	EFNB1	ORPHA:1520
HP:0012638	Abnormal nervous system physiology	1947	EFNB1	OMIM:304110
HP:0012638	Abnormal nervous system physiology	114803	MYSM1	ORPHA:508542
HP:0012638	Abnormal nervous system physiology	65267	WNK3	OMIM:309610
HP:0012638	Abnormal nervous system physiology	7552	ZNF711	OMIM:300803
HP:0012638	Abnormal nervous system physiology	51111	KMT5B	OMIM:617788
HP:0012638	Abnormal nervous system physiology	121340	SP7	ORPHA:1513
HP:0012638	Abnormal nervous system physiology	129685	TAF8	OMIM:619972
HP:0012638	Abnormal nervous system physiology	10584	COLEC10	OMIM:248340
HP:0012638	Abnormal nervous system physiology	10584	COLEC10	ORPHA:293843
HP:0012638	Abnormal nervous system physiology	55109	AGGF1	ORPHA:90308
HP:0012638	Abnormal nervous system physiology	64359	NXN	ORPHA:1507
HP:0012638	Abnormal nervous system physiology	4920	ROR2	ORPHA:1507
HP:0012638	Abnormal nervous system physiology	4920	ROR2	OMIM:268310
HP:0012638	Abnormal nervous system physiology	5566	PRKACA	ORPHA:289
HP:0012638	Abnormal nervous system physiology	5567	PRKACB	ORPHA:289
HP:0012638	Abnormal nervous system physiology	2735	GLI1	ORPHA:289
HP:0012638	Abnormal nervous system physiology	2121	EVC	ORPHA:289
HP:0012638	Abnormal nervous system physiology	2121	EVC	OMIM:225500
HP:0012638	Abnormal nervous system physiology	51626	DYNC2LI1	ORPHA:289
HP:0012638	Abnormal nervous system physiology	132884	EVC2	ORPHA:289
HP:0012638	Abnormal nervous system physiology	132884	EVC2	OMIM:225500
HP:0012638	Abnormal nervous system physiology	3612	IMPA1	OMIM:617323
HP:0012638	Abnormal nervous system physiology	55714	TENM3	OMIM:615145
HP:0012638	Abnormal nervous system physiology	55623	THUMPD1	OMIM:619989
HP:0012638	Abnormal nervous system physiology	8642	DCHS1	OMIM:601390
HP:0012638	Abnormal nervous system physiology	3476	IGBP1	ORPHA:52055
HP:0012638	Abnormal nervous system physiology	3476	IGBP1	OMIM:300472
HP:0012638	Abnormal nervous system physiology	9533	POLR1C	OMIM:616494
HP:0012638	Abnormal nervous system physiology	4849	CNOT3	OMIM:618672
HP:0012638	Abnormal nervous system physiology	153201	SLC36A2	OMIM:242600
HP:0012638	Abnormal nervous system physiology	10848	PPP1R13L	OMIM:620519
HP:0012638	Abnormal nervous system physiology	57479	PRR12	OMIM:619539
HP:0012638	Abnormal nervous system physiology	2678	GGT1	OMIM:231950
HP:0012638	Abnormal nervous system physiology	1107	CHD3	OMIM:618205
HP:0012638	Abnormal nervous system physiology	54808	DYM	ORPHA:239
HP:0012638	Abnormal nervous system physiology	54808	DYM	OMIM:223800
HP:0012638	Abnormal nervous system physiology	54808	DYM	OMIM:607326
HP:0012638	Abnormal nervous system physiology	57102	FERRY3	OMIM:618221
HP:0012638	Abnormal nervous system physiology	170689	ADAMTS15	OMIM:620545
HP:0012638	Abnormal nervous system physiology	5745	PTH1R	OMIM:600002
HP:0012638	Abnormal nervous system physiology	79048	SECISBP2	ORPHA:171706
HP:0012638	Abnormal nervous system physiology	2664	GDI1	OMIM:300849
HP:0012638	Abnormal nervous system physiology	5831	PYCR1	OMIM:612940
HP:0012638	Abnormal nervous system physiology	5831	PYCR1	OMIM:614438
HP:0012638	Abnormal nervous system physiology	9820	CUL7	OMIM:273750
HP:0012638	Abnormal nervous system physiology	92344	GORAB	OMIM:231070
HP:0012638	Abnormal nervous system physiology	2299	FOXI1	OMIM:274600
HP:0012638	Abnormal nervous system physiology	2299	FOXI1	ORPHA:705
HP:0012638	Abnormal nervous system physiology	5172	SLC26A4	OMIM:274600
HP:0012638	Abnormal nervous system physiology	5172	SLC26A4	ORPHA:705
HP:0012638	Abnormal nervous system physiology	80324	PUS1	OMIM:600462
HP:0012638	Abnormal nervous system physiology	80324	PUS1	ORPHA:2598
HP:0012638	Abnormal nervous system physiology	10013	HDAC6	OMIM:300863
HP:0012638	Abnormal nervous system physiology	6023	RMRP	OMIM:607095
HP:0012638	Abnormal nervous system physiology	51715	RAB23	ORPHA:65759
HP:0012638	Abnormal nervous system physiology	51715	RAB23	OMIM:201000
HP:0012638	Abnormal nervous system physiology	1954	MEGF8	ORPHA:65759
HP:0012638	Abnormal nervous system physiology	81620	CDT1	OMIM:613804
HP:0012638	Abnormal nervous system physiology	81620	CDT1	ORPHA:2554
HP:0012638	Abnormal nervous system physiology	139411	PTCHD1	OMIM:300830
HP:0012638	Abnormal nervous system physiology	79005	SCNM1	OMIM:620107
HP:0012638	Abnormal nervous system physiology	4796	TONSL	OMIM:271510
HP:0012638	Abnormal nervous system physiology	113189	CHST14	OMIM:601776
HP:0012638	Abnormal nervous system physiology	22978	NT5C2	ORPHA:320396
HP:0012638	Abnormal nervous system physiology	22978	NT5C2	OMIM:613162
HP:0012638	Abnormal nervous system physiology	6566	SLC16A1	OMIM:616095
HP:0012638	Abnormal nervous system physiology	64093	SMOC1	OMIM:206920
HP:0012638	Abnormal nervous system physiology	57020	VPS35L	OMIM:619135
HP:0012638	Abnormal nervous system physiology	57020	VPS35L	ORPHA:7
HP:0012638	Abnormal nervous system physiology	3739	KCNA4	OMIM:618284
HP:0012638	Abnormal nervous system physiology	22800	RRAS2	ORPHA:648
HP:0012638	Abnormal nervous system physiology	867	CBL	ORPHA:648
HP:0012638	Abnormal nervous system physiology	6016	RIT1	ORPHA:648
HP:0012638	Abnormal nervous system physiology	6016	RIT1	OMIM:615355
HP:0012638	Abnormal nervous system physiology	6237	RRAS	ORPHA:648
HP:0012638	Abnormal nervous system physiology	22808	MRAS	ORPHA:648
HP:0012638	Abnormal nervous system physiology	200734	SPRED2	ORPHA:648
HP:0012638	Abnormal nervous system physiology	6655	SOS2	ORPHA:648
HP:0012638	Abnormal nervous system physiology	5922	RASA2	ORPHA:648
HP:0012638	Abnormal nervous system physiology	2690	GHR	ORPHA:633
HP:0012638	Abnormal nervous system physiology	341640	FREM2	ORPHA:2052
HP:0012638	Abnormal nervous system physiology	23426	GRIP1	ORPHA:2052
HP:0012638	Abnormal nervous system physiology	10262	SF3B4	OMIM:154400
HP:0012638	Abnormal nervous system physiology	10992	SF3B2	OMIM:164210
HP:0012638	Abnormal nervous system physiology	1299	COL9A3	OMIM:620022
HP:0012638	Abnormal nervous system physiology	51204	TACO1	OMIM:619052
HP:0012638	Abnormal nervous system physiology	81031	SLC2A10	ORPHA:3342
HP:0012638	Abnormal nervous system physiology	81031	SLC2A10	OMIM:208050
HP:0012638	Abnormal nervous system physiology	55691	FRMD4A	OMIM:616819
HP:0012638	Abnormal nervous system physiology	10430	TMEM147	OMIM:620075
HP:0012638	Abnormal nervous system physiology	64220	STRA6	ORPHA:2470
HP:0012638	Abnormal nervous system physiology	7477	WNT7B	ORPHA:2470
HP:0012638	Abnormal nervous system physiology	5915	RARB	ORPHA:2470
HP:0012638	Abnormal nervous system physiology	5915	RARB	OMIM:615524
HP:0012638	Abnormal nervous system physiology	79791	FBXO31	OMIM:615979
HP:0012638	Abnormal nervous system physiology	51750	RTEL1	ORPHA:3322
HP:0012638	Abnormal nervous system physiology	5073	PARN	ORPHA:3322
HP:0012638	Abnormal nervous system physiology	26277	TINF2	ORPHA:3322
HP:0012638	Abnormal nervous system physiology	1736	DKC1	ORPHA:3322
HP:0012638	Abnormal nervous system physiology	1736	DKC1	OMIM:305000
HP:0012638	Abnormal nervous system physiology	51053	GMNN	OMIM:616835
HP:0012638	Abnormal nervous system physiology	51053	GMNN	ORPHA:2554
HP:0012638	Abnormal nervous system physiology	91179	SCARF2	OMIM:600920
HP:0012638	Abnormal nervous system physiology	125988	MICOS13	ORPHA:67047
HP:0012638	Abnormal nervous system physiology	3920	LAMP2	ORPHA:34587
HP:0012638	Abnormal nervous system physiology	3920	LAMP2	OMIM:300257
HP:0012638	Abnormal nervous system physiology	26224	FBXL3	OMIM:606220
HP:0012638	Abnormal nervous system physiology	10265	IRX5	OMIM:611174
HP:0012638	Abnormal nervous system physiology	10841	FTCD	OMIM:229100
HP:0012638	Abnormal nervous system physiology	5925	RB1	ORPHA:1587
HP:0012638	Abnormal nervous system physiology	29940	DSE	OMIM:615539
HP:0012638	Abnormal nervous system physiology	8200	GDF5	OMIM:200700
HP:0012638	Abnormal nervous system physiology	23443	SLC35A3	OMIM:615553
HP:0012638	Abnormal nervous system physiology	5293	PIK3CD	ORPHA:221139
HP:0012638	Abnormal nervous system physiology	90417	KNSTRN	ORPHA:221139
HP:0012638	Abnormal nervous system physiology	6591	SNAI2	ORPHA:2884
HP:0012638	Abnormal nervous system physiology	1663	DDX11	OMIM:613398
HP:0012638	Abnormal nervous system physiology	2990	GUSB	OMIM:253220
HP:0012638	Abnormal nervous system physiology	2990	GUSB	ORPHA:584
HP:0012638	Abnormal nervous system physiology	10082	GPC6	ORPHA:93329
HP:0012638	Abnormal nervous system physiology	406932	MIR140	OMIM:618618
HP:0012638	Abnormal nervous system physiology	23498	HAAO	OMIM:617660
HP:0012638	Abnormal nervous system physiology	9578	CDC42BPB	OMIM:619841
HP:0012638	Abnormal nervous system physiology	64412	GZF1	OMIM:617662
HP:0012638	Abnormal nervous system physiology	3149	HMGB3	OMIM:300915
HP:0012638	Abnormal nervous system physiology	64834	ELOVL1	OMIM:618527
HP:0012638	Abnormal nervous system physiology	79140	CCDC28B	OMIM:209900
HP:0012638	Abnormal nervous system physiology	1428	CRYM	OMIM:616357
HP:0012638	Abnormal nervous system physiology	10531	PITRM1	OMIM:619405
HP:0012638	Abnormal nervous system physiology	1749	DLX5	OMIM:183600
HP:0012638	Abnormal nervous system physiology	7227	TRPS1	OMIM:190350
HP:0012638	Abnormal nervous system physiology	7227	TRPS1	OMIM:190351
HP:0012638	Abnormal nervous system physiology	7227	TRPS1	ORPHA:502
HP:0012638	Abnormal nervous system physiology	7046	TGFBR1	OMIM:609192
HP:0012638	Abnormal nervous system physiology	1642	DDB1	OMIM:619426
HP:0012638	Abnormal nervous system physiology	9949	AMMECR1	OMIM:300990
HP:0012638	Abnormal nervous system physiology	8473	OGT	OMIM:300997
HP:0012638	Abnormal nervous system physiology	5309	PITX3	OMIM:610623
HP:0012638	Abnormal nervous system physiology	7707	ZNF148	OMIM:617260
HP:0012638	Abnormal nervous system physiology	6299	SALL1	OMIM:107480
HP:0012638	Abnormal nervous system physiology	6299	SALL1	ORPHA:857
HP:0012638	Abnormal nervous system physiology	55249	YY1AP1	OMIM:602531
HP:0012638	Abnormal nervous system physiology	147409	DSG4	ORPHA:573
HP:0012638	Abnormal nervous system physiology	3892	KRT86	ORPHA:573
HP:0012638	Abnormal nervous system physiology	3889	KRT83	ORPHA:573
HP:0012638	Abnormal nervous system physiology	3887	KRT81	ORPHA:573
HP:0012638	Abnormal nervous system physiology	55250	ELP2	OMIM:617270
HP:0012638	Abnormal nervous system physiology	3039	HBA1	ORPHA:98791
HP:0012638	Abnormal nervous system physiology	3040	HBA2	ORPHA:98791
HP:0012638	Abnormal nervous system physiology	27341	RRP7A	OMIM:619453
HP:0012638	Abnormal nervous system physiology	5077	PAX3	OMIM:148820
HP:0012638	Abnormal nervous system physiology	5077	PAX3	ORPHA:896
HP:0012638	Abnormal nervous system physiology	7809	BSND	OMIM:602522
HP:0012638	Abnormal nervous system physiology	7253	TSHR	OMIM:609152
HP:0012638	Abnormal nervous system physiology	57498	KIDINS220	OMIM:617296
HP:0012638	Abnormal nervous system physiology	57498	KIDINS220	ORPHA:521390
HP:0012638	Abnormal nervous system physiology	55505	NOP10	OMIM:224230
HP:0012638	Abnormal nervous system physiology	55651	NHP2	OMIM:224230
HP:0012638	Abnormal nervous system physiology	55651	NHP2	OMIM:613987
HP:0012638	Abnormal nervous system physiology	2317	FLNB	ORPHA:503
HP:0012638	Abnormal nervous system physiology	2317	FLNB	OMIM:150250
HP:0012638	Abnormal nervous system physiology	405753	DUOXA2	OMIM:274900
HP:0012638	Abnormal nervous system physiology	405753	DUOXA2	ORPHA:95716
HP:0012638	Abnormal nervous system physiology	28952	CCDC22	OMIM:300963
HP:0012638	Abnormal nervous system physiology	28952	CCDC22	ORPHA:7
HP:0012638	Abnormal nervous system physiology	80267	EDEM3	OMIM:619493
HP:0012638	Abnormal nervous system physiology	10491	CRTAP	OMIM:610682
HP:0012638	Abnormal nervous system physiology	203190	LGI3	OMIM:620007
HP:0012638	Abnormal nervous system physiology	5468	PPARG	ORPHA:528
HP:0012638	Abnormal nervous system physiology	2353	FOS	ORPHA:528
HP:0012638	Abnormal nervous system physiology	5524	PTPA	OMIM:620482
HP:0012638	Abnormal nervous system physiology	118429	ANTXR2	OMIM:228600
HP:0012638	Abnormal nervous system physiology	57539	WDR35	OMIM:613610
HP:0012638	Abnormal nervous system physiology	3953	LEPR	OMIM:614963
HP:0012638	Abnormal nervous system physiology	23325	WASHC4	OMIM:615817
HP:0012638	Abnormal nervous system physiology	633	BGN	OMIM:300106
HP:0012638	Abnormal nervous system physiology	54499	TMCO1	OMIM:213980
HP:0012638	Abnormal nervous system physiology	54499	TMCO1	ORPHA:1394
HP:0012638	Abnormal nervous system physiology	55275	VPS53	OMIM:615851
HP:0012638	Abnormal nervous system physiology	79228	THOC6	OMIM:613680
HP:0012638	Abnormal nervous system physiology	51134	CEP83	OMIM:615862
HP:0012638	Abnormal nervous system physiology	84181	CHD6	ORPHA:2108
HP:0012638	Abnormal nervous system physiology	5648	MASP1	OMIM:257920
HP:0012638	Abnormal nervous system physiology	5648	MASP1	ORPHA:293843
HP:0012638	Abnormal nervous system physiology	6948	TCN2	OMIM:275350
HP:0012638	Abnormal nervous system physiology	54101	RIPK4	ORPHA:1234
HP:0012638	Abnormal nervous system physiology	3176	HNMT	OMIM:616739
HP:0012638	Abnormal nervous system physiology	5000	ORC4	ORPHA:2554
HP:0012638	Abnormal nervous system physiology	23594	ORC6	ORPHA:2554
HP:0012638	Abnormal nervous system physiology	8318	CDC45	ORPHA:2554
HP:0012638	Abnormal nervous system physiology	990	CDC6	ORPHA:2554
HP:0012638	Abnormal nervous system physiology	4998	ORC1	ORPHA:2554
HP:0012638	Abnormal nervous system physiology	1000	CDH2	OMIM:618929
HP:0012638	Abnormal nervous system physiology	55764	IFT122	OMIM:218330
HP:0012638	Abnormal nervous system physiology	2304	FOXE1	ORPHA:1226
HP:0012638	Abnormal nervous system physiology	84061	MAGT1	OMIM:301031
HP:0012638	Abnormal nervous system physiology	84172	POLR1B	OMIM:618939
HP:0012638	Abnormal nervous system physiology	117581	TWIST2	OMIM:209885
HP:0012638	Abnormal nervous system physiology	114928	GPRASP2	OMIM:301018
HP:0012638	Abnormal nervous system physiology	7991	TUSC3	OMIM:611093
HP:0012638	Abnormal nervous system physiology	55553	SOX6	OMIM:618971
HP:0012638	Abnormal nervous system physiology	1804	DPP6	OMIM:616311
HP:0012638	Abnormal nervous system physiology	64682	ANAPC1	ORPHA:221008
HP:0012638	Abnormal nervous system physiology	9524	TECR	OMIM:614020
HP:0012638	Abnormal nervous system physiology	2895	GRID2	OMIM:616204
HP:0012638	Abnormal nervous system physiology	51126	NAA20	OMIM:619717
HP:0012638	Abnormal nervous system physiology	2972	BRF1	OMIM:616202
HP:0012638	Abnormal nervous system physiology	3008	H1-4	OMIM:617537
HP:0012638	Abnormal nervous system physiology	3891	KRT85	OMIM:602032
HP:0012638	Abnormal nervous system physiology	84572	GNPTG	OMIM:252605
HP:0012638	Abnormal nervous system physiology	9469	CHST3	OMIM:143095
HP:0012638	Abnormal nervous system physiology	7920	ABHD16A	OMIM:619735
HP:0012638	Abnormal nervous system physiology	23761	PISD	OMIM:618889
HP:0012638	Abnormal nervous system physiology	84314	TMEM107	OMIM:617562
HP:0012638	Abnormal nervous system physiology	64132	XYLT2	ORPHA:85194
HP:0012638	Abnormal nervous system physiology	9056	SLC7A7	ORPHA:470
HP:0012638	Abnormal nervous system physiology	9056	SLC7A7	OMIM:222700
HP:0012638	Abnormal nervous system physiology	8363	H4C11	OMIM:619759
HP:0012638	Abnormal nervous system physiology	9841	ZBTB24	OMIM:614069
HP:0012638	Abnormal nervous system physiology	9841	ZBTB24	ORPHA:2268
HP:0012638	Abnormal nervous system physiology	6810	STX4	OMIM:620745
HP:0012638	Abnormal nervous system physiology	145258	GSC	OMIM:602471
HP:0012638	Abnormal nervous system physiology	2312	FLG	ORPHA:461
HP:0012638	Abnormal nervous system physiology	53335	BCL11A	OMIM:617101
HP:0012638	Abnormal nervous system physiology	54487	DGCR8	OMIM:192430
HP:0012638	Abnormal nervous system physiology	8214	DGCR6	OMIM:192430
HP:0012638	Abnormal nervous system physiology	8220	ESS2	OMIM:192430
HP:0012638	Abnormal nervous system physiology	9993	DGCR2	OMIM:192430
HP:0012638	Abnormal nervous system physiology	11261	CHP1	OMIM:618438
HP:0012638	Abnormal nervous system physiology	4351	MPI	ORPHA:79319
HP:0012638	Abnormal nervous system physiology	3978	LIG1	OMIM:619774
HP:0012638	Abnormal nervous system physiology	85459	CEP295	OMIM:620767
HP:0012638	Abnormal nervous system physiology	6528	SLC5A5	OMIM:274400
HP:0012638	Abnormal nervous system physiology	6528	SLC5A5	ORPHA:95716
HP:0012638	Abnormal nervous system physiology	257	ALX3	OMIM:136760
HP:0012638	Abnormal nervous system physiology	79882	ZC3H14	OMIM:617125
HP:0012638	Abnormal nervous system physiology	5256	PHKA2	ORPHA:264580
HP:0012638	Abnormal nervous system physiology	5261	PHKG2	ORPHA:264580
HP:0012638	Abnormal nervous system physiology	2582	GALE	OMIM:620776
HP:0012638	Abnormal nervous system physiology	2582	GALE	OMIM:230350
HP:0012638	Abnormal nervous system physiology	203547	VMA21	OMIM:310440
HP:0012638	Abnormal nervous system physiology	4143	MAT1A	OMIM:250850
HP:0012638	Abnormal nervous system physiology	1363	CPE	OMIM:619326
HP:0012638	Abnormal nervous system physiology	93035	PKHD1L1	OMIM:620794
HP:0012638	Abnormal nervous system physiology	1108	CHD4	OMIM:617159
HP:0012638	Abnormal nervous system physiology	11080	DNAJB4	OMIM:620326
HP:0012638	Abnormal nervous system physiology	2628	GATM	OMIM:612718
HP:0012638	Abnormal nervous system physiology	9791	PTDSS1	OMIM:151050
HP:0012638	Abnormal nervous system physiology	9791	PTDSS1	ORPHA:2658
HP:0012638	Abnormal nervous system physiology	4882	NPR2	OMIM:602875
HP:0012638	Abnormal nervous system physiology	26005	C2CD3	ORPHA:434179
HP:0012638	Abnormal nervous system physiology	51339	DACT1	ORPHA:857
HP:0012638	Abnormal nervous system physiology	389434	IYD	OMIM:274800
HP:0012638	Abnormal nervous system physiology	389434	IYD	ORPHA:95716
HP:0012638	Abnormal nervous system physiology	8443	GNPAT	OMIM:222765
HP:0012638	Abnormal nervous system physiology	7102	TSPAN7	OMIM:300210
HP:0012638	Abnormal nervous system physiology	29128	UHRF1	ORPHA:2268
HP:0012638	Abnormal nervous system physiology	649	BMP1	OMIM:614856
HP:0012638	Abnormal nervous system physiology	197257	LDHD	OMIM:245450
HP:0012638	Abnormal nervous system physiology	1857	DVL3	ORPHA:3107
HP:0012638	Abnormal nervous system physiology	2535	FZD2	ORPHA:3107
HP:0012638	Abnormal nervous system physiology	6628	SNRPB	ORPHA:1393
HP:0012638	Abnormal nervous system physiology	6628	SNRPB	OMIM:117650
HP:0012638	Abnormal nervous system physiology	2548	GAA	ORPHA:308552
HP:0012638	Abnormal nervous system physiology	254065	BRWD3	OMIM:300659
HP:0012638	Abnormal nervous system physiology	9928	KIF14	OMIM:617914
HP:0012638	Abnormal nervous system physiology	2273	FHL1	ORPHA:98863
HP:0012638	Abnormal nervous system physiology	2273	FHL1	OMIM:300280
HP:0012638	Abnormal nervous system physiology	2010	EMD	ORPHA:98863
HP:0012638	Abnormal nervous system physiology	79188	TMEM43	ORPHA:98853
HP:0012638	Abnormal nervous system physiology	23224	SYNE2	ORPHA:98853
HP:0012638	Abnormal nervous system physiology	9158	FIBP	ORPHA:500095
HP:0012638	Abnormal nervous system physiology	4683	NBN	OMIM:251260
HP:0012638	Abnormal nervous system physiology	101929726	MYMX	ORPHA:1358
HP:0012638	Abnormal nervous system physiology	8671	SLC4A4	OMIM:604278
HP:0012638	Abnormal nervous system physiology	7173	TPO	ORPHA:95716
HP:0012638	Abnormal nervous system physiology	50506	DUOX2	ORPHA:95716
HP:0012638	Abnormal nervous system physiology	3549	IHH	OMIM:607778
HP:0012638	Abnormal nervous system physiology	338917	VSX2	OMIM:610093
HP:0012638	Abnormal nervous system physiology	6505	SLC1A1	OMIM:222730
HP:0012638	Abnormal nervous system physiology	2588	GALNS	OMIM:253000
HP:0012638	Abnormal nervous system physiology	54870	QRICH1	OMIM:617982
HP:0012638	Abnormal nervous system physiology	55315	SLC29A3	ORPHA:1782
HP:0012638	Abnormal nervous system physiology	6223	RPS19	OMIM:105650
HP:0012638	Abnormal nervous system physiology	23133	PHF8	OMIM:300263
HP:0012638	Abnormal nervous system physiology	139886	SPIN4	OMIM:301114
HP:0012638	Abnormal nervous system physiology	10083	USH1C	ORPHA:231169
HP:0012638	Abnormal nervous system physiology	124590	USH1G	ORPHA:231169
HP:0012638	Abnormal nervous system physiology	83715	ESPN	ORPHA:231169
HP:0012638	Abnormal nervous system physiology	10518	CIB2	ORPHA:231169
HP:0012638	Abnormal nervous system physiology	4647	MYO7A	ORPHA:231169
HP:0012638	Abnormal nervous system physiology	65217	PCDH15	ORPHA:231169
HP:0012638	Abnormal nervous system physiology	23001	WDFY3	OMIM:617520
HP:0012638	Abnormal nervous system physiology	9181	ARHGEF2	OMIM:617523
HP:0012638	Abnormal nervous system physiology	1718	DHCR24	OMIM:602398
HP:0012638	Abnormal nervous system physiology	1718	DHCR24	ORPHA:35107
HP:0012638	Abnormal nervous system physiology	3064	HTT	ORPHA:399
HP:0012638	Abnormal nervous system physiology	3064	HTT	OMIM:617435
HP:0012638	Abnormal nervous system physiology	3064	HTT	OMIM:143100
HP:0012638	Abnormal nervous system physiology	3064	HTT	ORPHA:248111
HP:0012638	Abnormal nervous system physiology	6515	SLC2A3	ORPHA:399
HP:0012638	Abnormal nervous system physiology	875	CBS	ORPHA:394
HP:0012638	Abnormal nervous system physiology	875	CBS	OMIM:236200
HP:0012638	Abnormal nervous system physiology	4524	MTHFR	ORPHA:395
HP:0012638	Abnormal nervous system physiology	4524	MTHFR	OMIM:236250
HP:0012638	Abnormal nervous system physiology	23394	ADNP	ORPHA:404448
HP:0012638	Abnormal nervous system physiology	23394	ADNP	OMIM:615873
HP:0012638	Abnormal nervous system physiology	51399	TRAPPC4	OMIM:618741
HP:0012638	Abnormal nervous system physiology	1139	CHRNA7	ORPHA:199318
HP:0012638	Abnormal nervous system physiology	1139	CHRNA7	OMIM:612001
HP:0012638	Abnormal nervous system physiology	51569	UFM1	OMIM:617899
HP:0012638	Abnormal nervous system physiology	1024	CDK8	OMIM:618748
HP:0012638	Abnormal nervous system physiology	10059	DNM1L	OMIM:614388
HP:0012638	Abnormal nervous system physiology	10059	DNM1L	ORPHA:330050
HP:0012638	Abnormal nervous system physiology	10059	DNM1L	ORPHA:98673
HP:0012638	Abnormal nervous system physiology	7360	UGP2	OMIM:618744
HP:0012638	Abnormal nervous system physiology	1788	DNMT3A	ORPHA:404443
HP:0012638	Abnormal nervous system physiology	1788	DNMT3A	OMIM:615879
HP:0012638	Abnormal nervous system physiology	55209	SETD5	ORPHA:404440
HP:0012638	Abnormal nervous system physiology	2731	GLDC	OMIM:605899
HP:0012638	Abnormal nervous system physiology	3909	LAMA3	ORPHA:79404
HP:0012638	Abnormal nervous system physiology	3918	LAMC2	ORPHA:79404
HP:0012638	Abnormal nervous system physiology	3914	LAMB3	ORPHA:79404
HP:0012638	Abnormal nervous system physiology	1729	DIAPH1	ORPHA:477814
HP:0012638	Abnormal nervous system physiology	1729	DIAPH1	ORPHA:2573
HP:0012638	Abnormal nervous system physiology	1729	DIAPH1	OMIM:616632
HP:0012638	Abnormal nervous system physiology	3481	IGF2	ORPHA:231140
HP:0012638	Abnormal nervous system physiology	283120	H19	ORPHA:231140
HP:0012638	Abnormal nervous system physiology	2593	GAMT	ORPHA:382
HP:0012638	Abnormal nervous system physiology	2593	GAMT	OMIM:612736
HP:0012638	Abnormal nervous system physiology	2737	GLI3	ORPHA:380
HP:0012638	Abnormal nervous system physiology	2737	GLI3	OMIM:175700
HP:0012638	Abnormal nervous system physiology	2737	GLI3	OMIM:146510
HP:0012638	Abnormal nervous system physiology	396	ARHGDIA	OMIM:615244
HP:0012638	Abnormal nervous system physiology	2348	FOLR1	OMIM:613068
HP:0012638	Abnormal nervous system physiology	23322	RPGRIP1L	ORPHA:220497
HP:0012638	Abnormal nervous system physiology	23322	RPGRIP1L	ORPHA:1454
HP:0012638	Abnormal nervous system physiology	4867	NPHP1	ORPHA:220497
HP:0012638	Abnormal nervous system physiology	4867	NPHP1	ORPHA:110
HP:0012638	Abnormal nervous system physiology	65062	TMEM237	ORPHA:220497
HP:0012638	Abnormal nervous system physiology	65062	TMEM237	ORPHA:2318
HP:0012638	Abnormal nervous system physiology	65062	TMEM237	ORPHA:475
HP:0012638	Abnormal nervous system physiology	27245	AHDC1	ORPHA:412069
HP:0012638	Abnormal nervous system physiology	2137	EXTL3	OMIM:617425
HP:0012638	Abnormal nervous system physiology	2137	EXTL3	ORPHA:508533
HP:0012638	Abnormal nervous system physiology	166378	AFG2A	OMIM:616577
HP:0012638	Abnormal nervous system physiology	166378	AFG2A	ORPHA:457351
HP:0012638	Abnormal nervous system physiology	84466	MEGF10	OMIM:614399
HP:0012638	Abnormal nervous system physiology	54806	AHI1	ORPHA:220493
HP:0012638	Abnormal nervous system physiology	54806	AHI1	ORPHA:475
HP:0012638	Abnormal nervous system physiology	56623	INPP5E	ORPHA:220493
HP:0012638	Abnormal nervous system physiology	56623	INPP5E	ORPHA:1454
HP:0012638	Abnormal nervous system physiology	56623	INPP5E	ORPHA:475
HP:0012638	Abnormal nervous system physiology	153241	CEP120	ORPHA:220493
HP:0012638	Abnormal nervous system physiology	153241	CEP120	ORPHA:475
HP:0012638	Abnormal nervous system physiology	54903	MKS1	ORPHA:220493
HP:0012638	Abnormal nervous system physiology	54903	MKS1	ORPHA:110
HP:0012638	Abnormal nervous system physiology	54903	MKS1	ORPHA:475
HP:0012638	Abnormal nervous system physiology	95681	CEP41	ORPHA:220493
HP:0012638	Abnormal nervous system physiology	95681	CEP41	ORPHA:475
HP:0012638	Abnormal nervous system physiology	84197	POMK	OMIM:615249
HP:0012638	Abnormal nervous system physiology	84197	POMK	ORPHA:370959
HP:0012638	Abnormal nervous system physiology	84197	POMK	ORPHA:899
HP:0012638	Abnormal nervous system physiology	1161	ERCC8	OMIM:216400
HP:0012638	Abnormal nervous system physiology	1161	ERCC8	ORPHA:90324
HP:0012638	Abnormal nervous system physiology	1161	ERCC8	ORPHA:90321
HP:0012638	Abnormal nervous system physiology	488	ATP2A2	OMIM:124200
HP:0012638	Abnormal nervous system physiology	488	ATP2A2	ORPHA:218
HP:0012638	Abnormal nervous system physiology	317662	FAM149B1	OMIM:618763
HP:0012638	Abnormal nervous system physiology	317662	FAM149B1	ORPHA:2754
HP:0012638	Abnormal nervous system physiology	79029	AFG2B	OMIM:619616
HP:0012638	Abnormal nervous system physiology	79029	AFG2B	OMIM:619615
HP:0012638	Abnormal nervous system physiology	6573	SLC19A1	OMIM:620603
HP:0012638	Abnormal nervous system physiology	2261	FGFR3	ORPHA:1860
HP:0012638	Abnormal nervous system physiology	2261	FGFR3	ORPHA:794
HP:0012638	Abnormal nervous system physiology	2261	FGFR3	ORPHA:93274
HP:0012638	Abnormal nervous system physiology	2261	FGFR3	ORPHA:2363
HP:0012638	Abnormal nervous system physiology	2261	FGFR3	OMIM:616482
HP:0012638	Abnormal nervous system physiology	2261	FGFR3	OMIM:602849
HP:0012638	Abnormal nervous system physiology	7436	VLDLR	OMIM:224050
HP:0012638	Abnormal nervous system physiology	7436	VLDLR	ORPHA:1766
HP:0012638	Abnormal nervous system physiology	55681	SCYL2	OMIM:618766
HP:0012638	Abnormal nervous system physiology	5191	PEX7	OMIM:215100
HP:0012638	Abnormal nervous system physiology	8659	ALDH4A1	OMIM:239510
HP:0012638	Abnormal nervous system physiology	8659	ALDH4A1	ORPHA:79101
HP:0012638	Abnormal nervous system physiology	2697	GJA1	ORPHA:2710
HP:0012638	Abnormal nervous system physiology	2697	GJA1	ORPHA:1010
HP:0012638	Abnormal nervous system physiology	2697	GJA1	OMIM:164200
HP:0012638	Abnormal nervous system physiology	4508	MT-ATP6	OMIM:551500
HP:0012638	Abnormal nervous system physiology	4508	MT-ATP6	ORPHA:644
HP:0012638	Abnormal nervous system physiology	4508	MT-ATP6	ORPHA:254913
HP:0012638	Abnormal nervous system physiology	4508	MT-ATP6	ORPHA:255210
HP:0012638	Abnormal nervous system physiology	9401	RECQL4	OMIM:218600
HP:0012638	Abnormal nervous system physiology	171023	ASXL1	ORPHA:97297
HP:0012638	Abnormal nervous system physiology	171023	ASXL1	OMIM:605039
HP:0012638	Abnormal nervous system physiology	4330	MN1	OMIM:618774
HP:0012638	Abnormal nervous system physiology	9997	SCO2	OMIM:608908
HP:0012638	Abnormal nervous system physiology	9997	SCO2	OMIM:604377
HP:0012638	Abnormal nervous system physiology	5813	PURA	ORPHA:438216
HP:0012638	Abnormal nervous system physiology	5813	PURA	OMIM:616158
HP:0012638	Abnormal nervous system physiology	5813	PURA	ORPHA:314655
HP:0012638	Abnormal nervous system physiology	3340	NDST1	OMIM:616116
HP:0012638	Abnormal nervous system physiology	284184	NDUFAF8	OMIM:618776
HP:0012638	Abnormal nervous system physiology	4247	MGAT2	OMIM:212066
HP:0012638	Abnormal nervous system physiology	4247	MGAT2	ORPHA:79329
HP:0012638	Abnormal nervous system physiology	54	ACP5	ORPHA:1855
HP:0012638	Abnormal nervous system physiology	5373	PMM2	OMIM:212065
HP:0012638	Abnormal nervous system physiology	5373	PMM2	ORPHA:79318
HP:0012638	Abnormal nervous system physiology	63901	FAM111A	OMIM:602361
HP:0012638	Abnormal nervous system physiology	63901	FAM111A	OMIM:127000
HP:0012638	Abnormal nervous system physiology	1499	CTNNB1	ORPHA:54595
HP:0012638	Abnormal nervous system physiology	1499	CTNNB1	ORPHA:404473
HP:0012638	Abnormal nervous system physiology	673	BRAF	ORPHA:54595
HP:0012638	Abnormal nervous system physiology	673	BRAF	ORPHA:626
HP:0012638	Abnormal nervous system physiology	673	BRAF	OMIM:613707
HP:0012638	Abnormal nervous system physiology	673	BRAF	OMIM:613706
HP:0012638	Abnormal nervous system physiology	673	BRAF	OMIM:115150
HP:0012638	Abnormal nervous system physiology	8398	PLA2G6	ORPHA:199351
HP:0012638	Abnormal nervous system physiology	8398	PLA2G6	ORPHA:35069
HP:0012638	Abnormal nervous system physiology	8398	PLA2G6	OMIM:610217
HP:0012638	Abnormal nervous system physiology	8398	PLA2G6	OMIM:256600
HP:0012638	Abnormal nervous system physiology	5476	CTSA	ORPHA:351
HP:0012638	Abnormal nervous system physiology	5476	CTSA	OMIM:256540
HP:0012638	Abnormal nervous system physiology	55768	NGLY1	OMIM:615273
HP:0012638	Abnormal nervous system physiology	55621	TRMT1	OMIM:618302
HP:0012638	Abnormal nervous system physiology	6905	TBCE	OMIM:241410
HP:0012638	Abnormal nervous system physiology	6905	TBCE	OMIM:244460
HP:0012638	Abnormal nervous system physiology	6905	TBCE	ORPHA:2323
HP:0012638	Abnormal nervous system physiology	6905	TBCE	OMIM:617207
HP:0012638	Abnormal nervous system physiology	6905	TBCE	ORPHA:496756
HP:0012638	Abnormal nervous system physiology	11277	TREX1	OMIM:192315
HP:0012638	Abnormal nervous system physiology	11277	TREX1	OMIM:225750
HP:0012638	Abnormal nervous system physiology	11277	TREX1	ORPHA:51
HP:0012638	Abnormal nervous system physiology	11277	TREX1	OMIM:152700
HP:0012638	Abnormal nervous system physiology	11277	TREX1	ORPHA:536
HP:0012638	Abnormal nervous system physiology	51633	OTUD6B	OMIM:617452
HP:0012638	Abnormal nervous system physiology	51633	OTUD6B	ORPHA:505237
HP:0012638	Abnormal nervous system physiology	9636	ISG15	OMIM:616126
HP:0012638	Abnormal nervous system physiology	5604	MAP2K1	OMIM:615279
HP:0012638	Abnormal nervous system physiology	2517	FUCA1	ORPHA:349
HP:0012638	Abnormal nervous system physiology	2517	FUCA1	OMIM:230000
HP:0012638	Abnormal nervous system physiology	9289	ADGRG1	ORPHA:101070
HP:0012638	Abnormal nervous system physiology	9289	ADGRG1	OMIM:606854
HP:0012638	Abnormal nervous system physiology	9289	ADGRG1	ORPHA:98889
HP:0012638	Abnormal nervous system physiology	9289	ADGRG1	OMIM:615752
HP:0012638	Abnormal nervous system physiology	5728	PTEN	ORPHA:101070
HP:0012638	Abnormal nervous system physiology	5728	PTEN	ORPHA:65285
HP:0012638	Abnormal nervous system physiology	5728	PTEN	ORPHA:210548
HP:0012638	Abnormal nervous system physiology	5728	PTEN	ORPHA:201
HP:0012638	Abnormal nervous system physiology	5728	PTEN	OMIM:158350
HP:0012638	Abnormal nervous system physiology	5728	PTEN	ORPHA:109
HP:0012638	Abnormal nervous system physiology	2203	FBP1	ORPHA:348
HP:0012638	Abnormal nervous system physiology	2203	FBP1	OMIM:229700
HP:0012638	Abnormal nervous system physiology	4598	MVK	ORPHA:343
HP:0012638	Abnormal nervous system physiology	4598	MVK	ORPHA:29
HP:0012638	Abnormal nervous system physiology	5727	PTCH1	OMIM:610828
HP:0012638	Abnormal nervous system physiology	5727	PTCH1	ORPHA:220386
HP:0012638	Abnormal nervous system physiology	5727	PTCH1	ORPHA:280200
HP:0012638	Abnormal nervous system physiology	5727	PTCH1	ORPHA:77301
HP:0012638	Abnormal nervous system physiology	5727	PTCH1	ORPHA:93926
HP:0012638	Abnormal nervous system physiology	5727	PTCH1	ORPHA:93924
HP:0012638	Abnormal nervous system physiology	5727	PTCH1	ORPHA:93925
HP:0012638	Abnormal nervous system physiology	4210	MEFV	ORPHA:342
HP:0012638	Abnormal nervous system physiology	4210	MEFV	ORPHA:117
HP:0012638	Abnormal nervous system physiology	2736	GLI2	OMIM:610829
HP:0012638	Abnormal nervous system physiology	2736	GLI2	ORPHA:95494
HP:0012638	Abnormal nervous system physiology	2736	GLI2	ORPHA:220386
HP:0012638	Abnormal nervous system physiology	2736	GLI2	ORPHA:280200
HP:0012638	Abnormal nervous system physiology	2736	GLI2	ORPHA:93926
HP:0012638	Abnormal nervous system physiology	2736	GLI2	ORPHA:93924
HP:0012638	Abnormal nervous system physiology	2736	GLI2	ORPHA:93925
HP:0012638	Abnormal nervous system physiology	79718	TBL1XR1	OMIM:602342
HP:0012638	Abnormal nervous system physiology	79718	TBL1XR1	OMIM:616944
HP:0012638	Abnormal nervous system physiology	3766	KCNJ10	ORPHA:199343
HP:0012638	Abnormal nervous system physiology	3766	KCNJ10	OMIM:612780
HP:0012638	Abnormal nervous system physiology	54828	BCAS3	OMIM:619641
HP:0012638	Abnormal nervous system physiology	1615	DARS1	OMIM:615281
HP:0012638	Abnormal nervous system physiology	3800	KIF5C	OMIM:615282
HP:0012638	Abnormal nervous system physiology	5621	PRNP	ORPHA:157941
HP:0012638	Abnormal nervous system physiology	5621	PRNP	ORPHA:282166
HP:0012638	Abnormal nervous system physiology	57169	ZNFX1	OMIM:619644
HP:0012638	Abnormal nervous system physiology	11041	B4GAT1	OMIM:615287
HP:0012638	Abnormal nervous system physiology	11041	B4GAT1	ORPHA:899
HP:0012638	Abnormal nervous system physiology	2232	FDXR	ORPHA:543470
HP:0012638	Abnormal nervous system physiology	7358	UGDH	OMIM:618792
HP:0012638	Abnormal nervous system physiology	113179	ADAT3	OMIM:615286
HP:0012638	Abnormal nervous system physiology	113179	ADAT3	ORPHA:363528
HP:0012638	Abnormal nervous system physiology	1742	DLG4	OMIM:618793
HP:0012638	Abnormal nervous system physiology	50485	SMARCAL1	ORPHA:1830
HP:0012638	Abnormal nervous system physiology	56947	MFF	ORPHA:485421
HP:0012638	Abnormal nervous system physiology	56947	MFF	OMIM:617086
HP:0012638	Abnormal nervous system physiology	2904	GRIN2B	OMIM:616139
HP:0012638	Abnormal nervous system physiology	2904	GRIN2B	OMIM:613970
HP:0012638	Abnormal nervous system physiology	56652	TWNK	OMIM:616138
HP:0012638	Abnormal nervous system physiology	56652	TWNK	ORPHA:70595
HP:0012638	Abnormal nervous system physiology	56652	TWNK	OMIM:609286
HP:0012638	Abnormal nervous system physiology	56652	TWNK	ORPHA:254892
HP:0012638	Abnormal nervous system physiology	56652	TWNK	OMIM:607459
HP:0012638	Abnormal nervous system physiology	476	ATP1A1	OMIM:618314
HP:0012638	Abnormal nervous system physiology	200424	TET3	OMIM:618798
HP:0012638	Abnormal nervous system physiology	79971	WLS	OMIM:619648
HP:0012638	Abnormal nervous system physiology	9711	RUBCN	ORPHA:404499
HP:0012638	Abnormal nervous system physiology	9711	RUBCN	OMIM:615705
HP:0012638	Abnormal nervous system physiology	10667	FARS2	ORPHA:466722
HP:0012638	Abnormal nervous system physiology	10667	FARS2	OMIM:614946
HP:0012638	Abnormal nervous system physiology	57688	ZSWIM6	OMIM:603671
HP:0012638	Abnormal nervous system physiology	57688	ZSWIM6	ORPHA:1827
HP:0012638	Abnormal nervous system physiology	51567	TDP2	ORPHA:404493
HP:0012638	Abnormal nervous system physiology	51567	TDP2	OMIM:616949
HP:0012638	Abnormal nervous system physiology	90	ACVR1	ORPHA:337
HP:0012638	Abnormal nervous system physiology	57609	DIP2B	OMIM:136630
HP:0012638	Abnormal nervous system physiology	4208	MEF2C	ORPHA:228384
HP:0012638	Abnormal nervous system physiology	4208	MEF2C	OMIM:613443
HP:0012638	Abnormal nervous system physiology	1436	CSF1R	OMIM:221820
HP:0012638	Abnormal nervous system physiology	1436	CSF1R	OMIM:618476
HP:0012638	Abnormal nervous system physiology	775	CACNA1C	OMIM:601005
HP:0012638	Abnormal nervous system physiology	775	CACNA1C	ORPHA:101016
HP:0012638	Abnormal nervous system physiology	775	CACNA1C	OMIM:620029
HP:0012638	Abnormal nervous system physiology	2239	GPC4	ORPHA:373
HP:0012638	Abnormal nervous system physiology	2719	GPC3	ORPHA:373
HP:0012638	Abnormal nervous system physiology	55739	NAXD	OMIM:618321
HP:0012638	Abnormal nervous system physiology	197258	FCSK	OMIM:618324
HP:0012638	Abnormal nervous system physiology	3423	IDS	OMIM:309900
HP:0012638	Abnormal nervous system physiology	3423	IDS	ORPHA:217093
HP:0012638	Abnormal nervous system physiology	3423	IDS	ORPHA:217085
HP:0012638	Abnormal nervous system physiology	23483	TGDS	OMIM:616145
HP:0012638	Abnormal nervous system physiology	84168	ANTXR1	OMIM:230740
HP:0012638	Abnormal nervous system physiology	25836	NIPBL	OMIM:122470
HP:0012638	Abnormal nervous system physiology	25836	NIPBL	ORPHA:199
HP:0012638	Abnormal nervous system physiology	23499	MACF1	OMIM:618325
HP:0012638	Abnormal nervous system physiology	4087	SMAD2	OMIM:619657
HP:0012638	Abnormal nervous system physiology	2744	GLS	OMIM:618328
HP:0012638	Abnormal nervous system physiology	4733	DRG1	OMIM:620641
HP:0012638	Abnormal nervous system physiology	79648	MCPH1	OMIM:251200
HP:0012638	Abnormal nervous system physiology	2055	CLN8	OMIM:600143
HP:0012638	Abnormal nervous system physiology	2055	CLN8	ORPHA:1947
HP:0012638	Abnormal nervous system physiology	2629	GBA1	ORPHA:77261
HP:0012638	Abnormal nervous system physiology	2629	GBA1	ORPHA:77260
HP:0012638	Abnormal nervous system physiology	2629	GBA1	ORPHA:85212
HP:0012638	Abnormal nervous system physiology	2629	GBA1	OMIM:608013
HP:0012638	Abnormal nervous system physiology	2629	GBA1	OMIM:231005
HP:0012638	Abnormal nervous system physiology	2629	GBA1	OMIM:230900
HP:0012638	Abnormal nervous system physiology	1387	CREBBP	OMIM:618332
HP:0012638	Abnormal nervous system physiology	1387	CREBBP	ORPHA:353281
HP:0012638	Abnormal nervous system physiology	1387	CREBBP	ORPHA:353277
HP:0012638	Abnormal nervous system physiology	1387	CREBBP	OMIM:180849
HP:0012638	Abnormal nervous system physiology	1387	CREBBP	ORPHA:592574
HP:0012638	Abnormal nervous system physiology	58497	PRUNE1	OMIM:617481
HP:0012638	Abnormal nervous system physiology	58497	PRUNE1	ORPHA:544469
HP:0012638	Abnormal nervous system physiology	51693	TRAPPC2L	OMIM:618331
HP:0012638	Abnormal nervous system physiology	84188	FAR1	OMIM:616154
HP:0012638	Abnormal nervous system physiology	84188	FAR1	ORPHA:438178
HP:0012638	Abnormal nervous system physiology	120	ADD3	OMIM:617008
HP:0012638	Abnormal nervous system physiology	5426	POLE	OMIM:618336
HP:0012638	Abnormal nervous system physiology	5426	POLE	ORPHA:440437
HP:0012638	Abnormal nervous system physiology	5910	RAP1GDS1	OMIM:620655
HP:0012638	Abnormal nervous system physiology	835	CASP2	OMIM:620653
HP:0012638	Abnormal nervous system physiology	435	ASL	ORPHA:23
HP:0012638	Abnormal nervous system physiology	435	ASL	OMIM:207900
HP:0012638	Abnormal nervous system physiology	7291	TWIST1	ORPHA:794
HP:0012638	Abnormal nervous system physiology	2263	FGFR2	ORPHA:794
HP:0012638	Abnormal nervous system physiology	2263	FGFR2	ORPHA:93260
HP:0012638	Abnormal nervous system physiology	2263	FGFR2	ORPHA:93259
HP:0012638	Abnormal nervous system physiology	2263	FGFR2	ORPHA:2363
HP:0012638	Abnormal nervous system physiology	2263	FGFR2	OMIM:123500
HP:0012638	Abnormal nervous system physiology	2639	GCDH	ORPHA:25
HP:0012638	Abnormal nervous system physiology	2639	GCDH	OMIM:231670
HP:0012638	Abnormal nervous system physiology	2074	ERCC6	OMIM:133540
HP:0012638	Abnormal nervous system physiology	2074	ERCC6	ORPHA:1466
HP:0012638	Abnormal nervous system physiology	2074	ERCC6	ORPHA:90324
HP:0012638	Abnormal nervous system physiology	2074	ERCC6	ORPHA:90321
HP:0012638	Abnormal nervous system physiology	2074	ERCC6	OMIM:214150
HP:0012638	Abnormal nervous system physiology	3155	HMGCL	ORPHA:20
HP:0012638	Abnormal nervous system physiology	3155	HMGCL	OMIM:246450
HP:0012638	Abnormal nervous system physiology	6448	SGSH	OMIM:252900
HP:0012638	Abnormal nervous system physiology	8925	HERC1	OMIM:617011
HP:0012638	Abnormal nervous system physiology	1281	COL3A1	OMIM:618343
HP:0012638	Abnormal nervous system physiology	1281	COL3A1	ORPHA:231160
HP:0012638	Abnormal nervous system physiology	10785	WDR4	OMIM:618346
HP:0012638	Abnormal nervous system physiology	10785	WDR4	OMIM:618347
HP:0012638	Abnormal nervous system physiology	10785	WDR4	ORPHA:2065
HP:0012638	Abnormal nervous system physiology	10564	ARFGEF2	OMIM:608097
HP:0012638	Abnormal nervous system physiology	2495	FTH1	OMIM:620669
HP:0012638	Abnormal nervous system physiology	8573	CASK	OMIM:300749
HP:0012638	Abnormal nervous system physiology	8573	CASK	ORPHA:1934
HP:0012638	Abnormal nervous system physiology	8573	CASK	OMIM:300422
HP:0012638	Abnormal nervous system physiology	8573	CASK	ORPHA:163937
HP:0012638	Abnormal nervous system physiology	1798	DPAGT1	OMIM:608093
HP:0012638	Abnormal nervous system physiology	1798	DPAGT1	ORPHA:86309
HP:0012638	Abnormal nervous system physiology	55746	NUP133	OMIM:618349
HP:0012638	Abnormal nervous system physiology	55746	NUP133	ORPHA:2065
HP:0012638	Abnormal nervous system physiology	51259	TMEM216	OMIM:608091
HP:0012638	Abnormal nervous system physiology	51259	TMEM216	ORPHA:2318
HP:0012638	Abnormal nervous system physiology	51259	TMEM216	ORPHA:2754
HP:0012638	Abnormal nervous system physiology	51117	COQ4	OMIM:620666
HP:0012638	Abnormal nervous system physiology	51117	COQ4	OMIM:616276
HP:0012638	Abnormal nervous system physiology	100033413	SNORD116-1	OMIM:176270
HP:0012638	Abnormal nervous system physiology	8924	HERC2	OMIM:176270
HP:0012638	Abnormal nervous system physiology	8924	HERC2	OMIM:615516
HP:0012638	Abnormal nervous system physiology	23742	NPAP1	OMIM:176270
HP:0012638	Abnormal nervous system physiology	338433	SNORD115-1	OMIM:176270
HP:0012638	Abnormal nervous system physiology	54551	MAGEL2	OMIM:176270
HP:0012638	Abnormal nervous system physiology	54551	MAGEL2	ORPHA:398069
HP:0012638	Abnormal nervous system physiology	54551	MAGEL2	ORPHA:177904
HP:0012638	Abnormal nervous system physiology	54551	MAGEL2	ORPHA:177901
HP:0012638	Abnormal nervous system physiology	54551	MAGEL2	OMIM:615547
HP:0012638	Abnormal nervous system physiology	54551	MAGEL2	ORPHA:98754
HP:0012638	Abnormal nervous system physiology	7681	MKRN3	OMIM:176270
HP:0012638	Abnormal nervous system physiology	145624	PWAR1	OMIM:176270
HP:0012638	Abnormal nervous system physiology	3653	IPW	OMIM:176270
HP:0012638	Abnormal nervous system physiology	791114	PWRN1	OMIM:176270
HP:0012638	Abnormal nervous system physiology	1950	EGF	OMIM:611718
HP:0012638	Abnormal nervous system physiology	56945	MRPS22	OMIM:611719
HP:0012638	Abnormal nervous system physiology	5575	PRKAR1B	OMIM:619680
HP:0012638	Abnormal nervous system physiology	3028	HSD17B10	ORPHA:391457
HP:0012638	Abnormal nervous system physiology	3028	HSD17B10	ORPHA:391428
HP:0012638	Abnormal nervous system physiology	3028	HSD17B10	OMIM:300438
HP:0012638	Abnormal nervous system physiology	10733	PLK4	OMIM:616171
HP:0012638	Abnormal nervous system physiology	10733	PLK4	ORPHA:2518
HP:0012638	Abnormal nervous system physiology	3712	IVD	ORPHA:33
HP:0012638	Abnormal nervous system physiology	3712	IVD	OMIM:243500
HP:0012638	Abnormal nervous system physiology	23395	LARS2	OMIM:617021
HP:0012638	Abnormal nervous system physiology	283989	TSEN54	OMIM:225753
HP:0012638	Abnormal nervous system physiology	283989	TSEN54	OMIM:610204
HP:0012638	Abnormal nervous system physiology	283989	TSEN54	ORPHA:2524
HP:0012638	Abnormal nervous system physiology	283989	TSEN54	ORPHA:166063
HP:0012638	Abnormal nervous system physiology	283989	TSEN54	OMIM:277470
HP:0012638	Abnormal nervous system physiology	23114	NFASC	OMIM:618356
HP:0012638	Abnormal nervous system physiology	55182	RNF220	OMIM:619688
HP:0012638	Abnormal nervous system physiology	6096	RORB	OMIM:618357
HP:0012638	Abnormal nervous system physiology	116461	TSEN15	OMIM:617026
HP:0012638	Abnormal nervous system physiology	116461	TSEN15	ORPHA:2524
HP:0012638	Abnormal nervous system physiology	6492	SIM1	ORPHA:398079
HP:0012638	Abnormal nervous system physiology	25885	POLR1A	OMIM:620675
HP:0012638	Abnormal nervous system physiology	25885	POLR1A	OMIM:616462
HP:0012638	Abnormal nervous system physiology	51114	ZDHHC9	ORPHA:776
HP:0012638	Abnormal nervous system physiology	65109	UPF3B	ORPHA:776
HP:0012638	Abnormal nervous system physiology	9968	MED12	ORPHA:776
HP:0012638	Abnormal nervous system physiology	9968	MED12	OMIM:309520
HP:0012638	Abnormal nervous system physiology	9968	MED12	OMIM:300895
HP:0012638	Abnormal nervous system physiology	9968	MED12	ORPHA:93932
HP:0012638	Abnormal nervous system physiology	9968	MED12	OMIM:305450
HP:0012638	Abnormal nervous system physiology	3767	KCNJ11	ORPHA:99886
HP:0012638	Abnormal nervous system physiology	3767	KCNJ11	ORPHA:79644
HP:0012638	Abnormal nervous system physiology	3767	KCNJ11	ORPHA:79134
HP:0012638	Abnormal nervous system physiology	346171	ZFP57	ORPHA:99886
HP:0012638	Abnormal nervous system physiology	57061	HYMAI	ORPHA:99886
HP:0012638	Abnormal nervous system physiology	6833	ABCC8	ORPHA:99886
HP:0012638	Abnormal nervous system physiology	6833	ABCC8	OMIM:240800
HP:0012638	Abnormal nervous system physiology	6833	ABCC8	ORPHA:79134
HP:0012638	Abnormal nervous system physiology	5325	PLAGL1	ORPHA:99886
HP:0012638	Abnormal nervous system physiology	4204	MECP2	ORPHA:778
HP:0012638	Abnormal nervous system physiology	4204	MECP2	OMIM:312750
HP:0012638	Abnormal nervous system physiology	4204	MECP2	OMIM:300055
HP:0012638	Abnormal nervous system physiology	4204	MECP2	OMIM:300496
HP:0012638	Abnormal nervous system physiology	4204	MECP2	ORPHA:536
HP:0012638	Abnormal nervous system physiology	4204	MECP2	ORPHA:209370
HP:0012638	Abnormal nervous system physiology	4204	MECP2	ORPHA:3095
HP:0012638	Abnormal nervous system physiology	4204	MECP2	ORPHA:3077
HP:0012638	Abnormal nervous system physiology	4204	MECP2	OMIM:300673
HP:0012638	Abnormal nervous system physiology	4204	MECP2	OMIM:300260
HP:0012638	Abnormal nervous system physiology	801	CALM1	ORPHA:101016
HP:0012638	Abnormal nervous system physiology	3753	KCNE1	ORPHA:101016
HP:0012638	Abnormal nervous system physiology	3753	KCNE1	ORPHA:90647
HP:0012638	Abnormal nervous system physiology	3762	KCNJ5	ORPHA:101016
HP:0012638	Abnormal nervous system physiology	3762	KCNJ5	ORPHA:37553
HP:0012638	Abnormal nervous system physiology	805	CALM2	ORPHA:101016
HP:0012638	Abnormal nervous system physiology	805	CALM2	OMIM:616249
HP:0012638	Abnormal nervous system physiology	6910	TBX5	ORPHA:101016
HP:0012638	Abnormal nervous system physiology	6336	SCN10A	ORPHA:101016
HP:0012638	Abnormal nervous system physiology	6336	SCN10A	ORPHA:46348
HP:0012638	Abnormal nervous system physiology	3757	KCNH2	ORPHA:101016
HP:0012638	Abnormal nervous system physiology	9992	KCNE2	ORPHA:101016
HP:0012638	Abnormal nervous system physiology	10142	AKAP9	ORPHA:101016
HP:0012638	Abnormal nervous system physiology	9722	NOS1AP	ORPHA:101016
HP:0012638	Abnormal nervous system physiology	3784	KCNQ1	ORPHA:101016
HP:0012638	Abnormal nervous system physiology	3784	KCNQ1	ORPHA:90647
HP:0012638	Abnormal nervous system physiology	10345	TRDN	ORPHA:101016
HP:0012638	Abnormal nervous system physiology	10345	TRDN	OMIM:604772
HP:0012638	Abnormal nervous system physiology	6331	SCN5A	ORPHA:101016
HP:0012638	Abnormal nervous system physiology	6330	SCN4B	ORPHA:101016
HP:0012638	Abnormal nervous system physiology	808	CALM3	ORPHA:101016
HP:0012638	Abnormal nervous system physiology	6640	SNTA1	ORPHA:101016
HP:0012638	Abnormal nervous system physiology	859	CAV3	ORPHA:101016
HP:0012638	Abnormal nervous system physiology	287	ANK2	ORPHA:101016
HP:0012638	Abnormal nervous system physiology	427	ASAH1	ORPHA:333
HP:0012638	Abnormal nervous system physiology	427	ASAH1	ORPHA:2590
HP:0012638	Abnormal nervous system physiology	79709	COLGALT1	OMIM:618360
HP:0012638	Abnormal nervous system physiology	473	RERE	ORPHA:494344
HP:0012638	Abnormal nervous system physiology	473	RERE	OMIM:616975
HP:0012638	Abnormal nervous system physiology	473	RERE	ORPHA:1606
HP:0012638	Abnormal nervous system physiology	55777	MBD5	OMIM:156200
HP:0012638	Abnormal nervous system physiology	55777	MBD5	ORPHA:228402
HP:0012638	Abnormal nervous system physiology	486	FXYD2	OMIM:154020
HP:0012638	Abnormal nervous system physiology	84340	GFM2	ORPHA:565624
HP:0012638	Abnormal nervous system physiology	10588	MTHFS	OMIM:618367
HP:0012638	Abnormal nervous system physiology	24140	FTSJ1	OMIM:309549
HP:0012638	Abnormal nervous system physiology	6601	SMARCC2	OMIM:618362
HP:0012638	Abnormal nervous system physiology	6601	SMARCC2	ORPHA:1465
HP:0012638	Abnormal nervous system physiology	92255	LMBRD2	OMIM:619694
HP:0012638	Abnormal nervous system physiology	6334	SCN8A	OMIM:618364
HP:0012638	Abnormal nervous system physiology	6334	SCN8A	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	6334	SCN8A	ORPHA:31709
HP:0012638	Abnormal nervous system physiology	7157	TP53	OMIM:260500
HP:0012638	Abnormal nervous system physiology	7157	TP53	ORPHA:2807
HP:0012638	Abnormal nervous system physiology	3054	HCFC1	OMIM:309541
HP:0012638	Abnormal nervous system physiology	201163	FLCN	OMIM:610883
HP:0012638	Abnormal nervous system physiology	819	CAMLG	OMIM:620201
HP:0012638	Abnormal nervous system physiology	2717	GLA	ORPHA:324
HP:0012638	Abnormal nervous system physiology	2717	GLA	OMIM:301500
HP:0012638	Abnormal nervous system physiology	25778	DSTYK	ORPHA:101003
HP:0012638	Abnormal nervous system physiology	5805	PTS	ORPHA:13
HP:0012638	Abnormal nervous system physiology	5805	PTS	OMIM:261640
HP:0012638	Abnormal nervous system physiology	2743	GLRB	ORPHA:3197
HP:0012638	Abnormal nervous system physiology	2741	GLRA1	ORPHA:3197
HP:0012638	Abnormal nervous system physiology	2741	GLRA1	OMIM:149400
HP:0012638	Abnormal nervous system physiology	10243	GPHN	ORPHA:3197
HP:0012638	Abnormal nervous system physiology	10243	GPHN	OMIM:149400
HP:0012638	Abnormal nervous system physiology	84896	ATAD1	ORPHA:3197
HP:0012638	Abnormal nervous system physiology	84896	ATAD1	OMIM:618011
HP:0012638	Abnormal nervous system physiology	9152	SLC6A5	ORPHA:3197
HP:0012638	Abnormal nervous system physiology	27316	RBMX	OMIM:309555
HP:0012638	Abnormal nervous system physiology	27316	RBMX	ORPHA:85286
HP:0012638	Abnormal nervous system physiology	11342	RNF13	OMIM:618379
HP:0012638	Abnormal nervous system physiology	11342	RNF13	ORPHA:544503
HP:0012638	Abnormal nervous system physiology	8802	SUCLG1	ORPHA:17
HP:0012638	Abnormal nervous system physiology	84705	GTPBP3	OMIM:616198
HP:0012638	Abnormal nervous system physiology	84705	GTPBP3	ORPHA:444013
HP:0012638	Abnormal nervous system physiology	6304	SATB1	OMIM:619228
HP:0012638	Abnormal nervous system physiology	6304	SATB1	OMIM:619229
HP:0012638	Abnormal nervous system physiology	594	BCKDHB	OMIM:620698
HP:0012638	Abnormal nervous system physiology	220296	HEPACAM	OMIM:613925
HP:0012638	Abnormal nervous system physiology	220296	HEPACAM	OMIM:613926
HP:0012638	Abnormal nervous system physiology	220296	HEPACAM	ORPHA:210548
HP:0012638	Abnormal nervous system physiology	220296	HEPACAM	OMIM:604004
HP:0012638	Abnormal nervous system physiology	8883	NAE1	OMIM:620210
HP:0012638	Abnormal nervous system physiology	4763	NF1	ORPHA:97685
HP:0012638	Abnormal nervous system physiology	4763	NF1	ORPHA:139474
HP:0012638	Abnormal nervous system physiology	4763	NF1	ORPHA:363700
HP:0012638	Abnormal nervous system physiology	4763	NF1	OMIM:162200
HP:0012638	Abnormal nervous system physiology	26040	SETBP1	ORPHA:798
HP:0012638	Abnormal nervous system physiology	26040	SETBP1	OMIM:616078
HP:0012638	Abnormal nervous system physiology	26040	SETBP1	OMIM:269150
HP:0012638	Abnormal nervous system physiology	83480	PUS3	OMIM:617051
HP:0012638	Abnormal nervous system physiology	83480	PUS3	ORPHA:488627
HP:0012638	Abnormal nervous system physiology	9197	SLC33A1	ORPHA:171863
HP:0012638	Abnormal nervous system physiology	9197	SLC33A1	OMIM:614482
HP:0012638	Abnormal nervous system physiology	4158	MC2R	OMIM:202200
HP:0012638	Abnormal nervous system physiology	54809	SAMD9	OMIM:617053
HP:0012638	Abnormal nervous system physiology	8452	CUL3	OMIM:619239
HP:0012638	Abnormal nervous system physiology	3032	HADHB	ORPHA:746
HP:0012638	Abnormal nervous system physiology	3032	HADHB	OMIM:620300
HP:0012638	Abnormal nervous system physiology	3030	HADHA	ORPHA:746
HP:0012638	Abnormal nervous system physiology	3030	HADHA	ORPHA:5
HP:0012638	Abnormal nervous system physiology	2218	FKTN	OMIM:253800
HP:0012638	Abnormal nervous system physiology	2218	FKTN	ORPHA:272
HP:0012638	Abnormal nervous system physiology	2218	FKTN	ORPHA:588
HP:0012638	Abnormal nervous system physiology	2218	FKTN	OMIM:236670
HP:0012638	Abnormal nervous system physiology	2218	FKTN	ORPHA:899
HP:0012638	Abnormal nervous system physiology	80184	CEP290	OMIM:611755
HP:0012638	Abnormal nervous system physiology	80184	CEP290	ORPHA:65
HP:0012638	Abnormal nervous system physiology	80184	CEP290	ORPHA:2318
HP:0012638	Abnormal nervous system physiology	80184	CEP290	ORPHA:110
HP:0012638	Abnormal nervous system physiology	80036	TRPM3	OMIM:620224
HP:0012638	Abnormal nervous system physiology	4221	MEN1	ORPHA:97279
HP:0012638	Abnormal nervous system physiology	4221	MEN1	ORPHA:2965
HP:0012638	Abnormal nervous system physiology	7528	YY1	ORPHA:97279
HP:0012638	Abnormal nervous system physiology	207	AKT1	ORPHA:744
HP:0012638	Abnormal nervous system physiology	207	AKT1	ORPHA:201
HP:0012638	Abnormal nervous system physiology	207	AKT1	ORPHA:2495
HP:0012638	Abnormal nervous system physiology	207	AKT1	OMIM:615109
HP:0012638	Abnormal nervous system physiology	162417	NAGS	OMIM:237310
HP:0012638	Abnormal nervous system physiology	162417	NAGS	ORPHA:927
HP:0012638	Abnormal nervous system physiology	215	ABCD1	ORPHA:369942
HP:0012638	Abnormal nervous system physiology	215	ABCD1	OMIM:300100
HP:0012638	Abnormal nervous system physiology	215	ABCD1	ORPHA:139396
HP:0012638	Abnormal nervous system physiology	10134	BCAP31	ORPHA:369942
HP:0012638	Abnormal nervous system physiology	10134	BCAP31	OMIM:300475
HP:0012638	Abnormal nervous system physiology	29925	GMPPB	ORPHA:370959
HP:0012638	Abnormal nervous system physiology	29925	GMPPB	ORPHA:588
HP:0012638	Abnormal nervous system physiology	29925	GMPPB	ORPHA:363623
HP:0012638	Abnormal nervous system physiology	29925	GMPPB	OMIM:615350
HP:0012638	Abnormal nervous system physiology	29925	GMPPB	OMIM:615351
HP:0012638	Abnormal nervous system physiology	29925	GMPPB	OMIM:615352
HP:0012638	Abnormal nervous system physiology	79147	FKRP	ORPHA:370959
HP:0012638	Abnormal nervous system physiology	79147	FKRP	ORPHA:588
HP:0012638	Abnormal nervous system physiology	79147	FKRP	OMIM:236670
HP:0012638	Abnormal nervous system physiology	79147	FKRP	ORPHA:899
HP:0012638	Abnormal nervous system physiology	29954	POMT2	ORPHA:370959
HP:0012638	Abnormal nervous system physiology	29954	POMT2	ORPHA:588
HP:0012638	Abnormal nervous system physiology	29954	POMT2	OMIM:236670
HP:0012638	Abnormal nervous system physiology	29954	POMT2	ORPHA:899
HP:0012638	Abnormal nervous system physiology	29954	POMT2	OMIM:613150
HP:0012638	Abnormal nervous system physiology	55624	POMGNT1	ORPHA:370959
HP:0012638	Abnormal nervous system physiology	55624	POMGNT1	OMIM:253280
HP:0012638	Abnormal nervous system physiology	55624	POMGNT1	ORPHA:588
HP:0012638	Abnormal nervous system physiology	55624	POMGNT1	ORPHA:899
HP:0012638	Abnormal nervous system physiology	10585	POMT1	ORPHA:370959
HP:0012638	Abnormal nervous system physiology	10585	POMT1	ORPHA:588
HP:0012638	Abnormal nervous system physiology	10585	POMT1	OMIM:236670
HP:0012638	Abnormal nervous system physiology	10585	POMT1	ORPHA:899
HP:0012638	Abnormal nervous system physiology	51360	MBTPS2	OMIM:308205
HP:0012638	Abnormal nervous system physiology	51360	MBTPS2	ORPHA:659
HP:0012638	Abnormal nervous system physiology	51360	MBTPS2	ORPHA:2273
HP:0012638	Abnormal nervous system physiology	7204	TRIO	OMIM:617061
HP:0012638	Abnormal nervous system physiology	7204	TRIO	ORPHA:476126
HP:0012638	Abnormal nervous system physiology	7204	TRIO	OMIM:618825
HP:0012638	Abnormal nervous system physiology	60558	GUF1	OMIM:617065
HP:0012638	Abnormal nervous system physiology	57477	SHROOM4	ORPHA:85288
HP:0012638	Abnormal nervous system physiology	9326	ZNHIT3	OMIM:260565
HP:0012638	Abnormal nervous system physiology	9326	ZNHIT3	ORPHA:2836
HP:0012638	Abnormal nervous system physiology	55640	FLVCR2	OMIM:225790
HP:0012638	Abnormal nervous system physiology	23112	TNRC6B	OMIM:619243
HP:0012638	Abnormal nervous system physiology	91875	TTC5	OMIM:619244
HP:0012638	Abnormal nervous system physiology	23096	IQSEC2	OMIM:309530
HP:0012638	Abnormal nervous system physiology	23096	IQSEC2	ORPHA:819
HP:0012638	Abnormal nervous system physiology	23096	IQSEC2	ORPHA:397933
HP:0012638	Abnormal nervous system physiology	23096	IQSEC2	ORPHA:217377
HP:0012638	Abnormal nervous system physiology	8450	CUL4B	ORPHA:85293
HP:0012638	Abnormal nervous system physiology	8450	CUL4B	OMIM:300354
HP:0012638	Abnormal nervous system physiology	6853	SYN1	ORPHA:85294
HP:0012638	Abnormal nervous system physiology	6853	SYN1	OMIM:300491
HP:0012638	Abnormal nervous system physiology	5625	PRODH	OMIM:239500
HP:0012638	Abnormal nervous system physiology	5625	PRODH	ORPHA:419
HP:0012638	Abnormal nervous system physiology	93587	TRMT10A	ORPHA:391408
HP:0012638	Abnormal nervous system physiology	93587	TRMT10A	OMIM:616033
HP:0012638	Abnormal nervous system physiology	84919	PPP1R15B	ORPHA:391408
HP:0012638	Abnormal nervous system physiology	84919	PPP1R15B	OMIM:616817
HP:0012638	Abnormal nervous system physiology	2799	GNS	OMIM:252940
HP:0012638	Abnormal nervous system physiology	55670	PEX26	ORPHA:772
HP:0012638	Abnormal nervous system physiology	55670	PEX26	ORPHA:44
HP:0012638	Abnormal nervous system physiology	55670	PEX26	OMIM:614872
HP:0012638	Abnormal nervous system physiology	55670	PEX26	ORPHA:912
HP:0012638	Abnormal nervous system physiology	5824	PEX19	ORPHA:772
HP:0012638	Abnormal nervous system physiology	5824	PEX19	ORPHA:44
HP:0012638	Abnormal nervous system physiology	5824	PEX19	OMIM:614886
HP:0012638	Abnormal nervous system physiology	5824	PEX19	ORPHA:912
HP:0012638	Abnormal nervous system physiology	5828	PEX2	ORPHA:772
HP:0012638	Abnormal nervous system physiology	5828	PEX2	ORPHA:44
HP:0012638	Abnormal nervous system physiology	5828	PEX2	OMIM:614866
HP:0012638	Abnormal nervous system physiology	5828	PEX2	ORPHA:912
HP:0012638	Abnormal nervous system physiology	8504	PEX3	ORPHA:772
HP:0012638	Abnormal nervous system physiology	8504	PEX3	ORPHA:44
HP:0012638	Abnormal nervous system physiology	8504	PEX3	OMIM:614882
HP:0012638	Abnormal nervous system physiology	8504	PEX3	ORPHA:912
HP:0012638	Abnormal nervous system physiology	9409	PEX16	ORPHA:772
HP:0012638	Abnormal nervous system physiology	9409	PEX16	ORPHA:44
HP:0012638	Abnormal nervous system physiology	9409	PEX16	OMIM:614876
HP:0012638	Abnormal nervous system physiology	9409	PEX16	ORPHA:912
HP:0012638	Abnormal nervous system physiology	5190	PEX6	ORPHA:772
HP:0012638	Abnormal nervous system physiology	5190	PEX6	ORPHA:44
HP:0012638	Abnormal nervous system physiology	5190	PEX6	OMIM:614862
HP:0012638	Abnormal nervous system physiology	5190	PEX6	OMIM:614863
HP:0012638	Abnormal nervous system physiology	5190	PEX6	ORPHA:912
HP:0012638	Abnormal nervous system physiology	8799	PEX11B	ORPHA:772
HP:0012638	Abnormal nervous system physiology	8799	PEX11B	ORPHA:44
HP:0012638	Abnormal nervous system physiology	8799	PEX11B	ORPHA:912
HP:0012638	Abnormal nervous system physiology	5830	PEX5	ORPHA:772
HP:0012638	Abnormal nervous system physiology	5830	PEX5	ORPHA:44
HP:0012638	Abnormal nervous system physiology	5830	PEX5	OMIM:214110
HP:0012638	Abnormal nervous system physiology	5830	PEX5	OMIM:616716
HP:0012638	Abnormal nervous system physiology	5830	PEX5	OMIM:202370
HP:0012638	Abnormal nervous system physiology	5830	PEX5	ORPHA:912
HP:0012638	Abnormal nervous system physiology	5189	PEX1	ORPHA:772
HP:0012638	Abnormal nervous system physiology	5189	PEX1	ORPHA:44
HP:0012638	Abnormal nervous system physiology	5189	PEX1	OMIM:214100
HP:0012638	Abnormal nervous system physiology	5189	PEX1	OMIM:601539
HP:0012638	Abnormal nervous system physiology	5189	PEX1	ORPHA:912
HP:0012638	Abnormal nervous system physiology	5193	PEX12	ORPHA:772
HP:0012638	Abnormal nervous system physiology	5193	PEX12	ORPHA:44
HP:0012638	Abnormal nervous system physiology	5193	PEX12	OMIM:614859
HP:0012638	Abnormal nervous system physiology	5193	PEX12	ORPHA:912
HP:0012638	Abnormal nervous system physiology	5194	PEX13	ORPHA:772
HP:0012638	Abnormal nervous system physiology	5194	PEX13	ORPHA:44
HP:0012638	Abnormal nervous system physiology	5194	PEX13	OMIM:614883
HP:0012638	Abnormal nervous system physiology	5194	PEX13	ORPHA:912
HP:0012638	Abnormal nervous system physiology	5195	PEX14	ORPHA:772
HP:0012638	Abnormal nervous system physiology	5195	PEX14	ORPHA:44
HP:0012638	Abnormal nervous system physiology	5195	PEX14	OMIM:614887
HP:0012638	Abnormal nervous system physiology	5195	PEX14	ORPHA:912
HP:0012638	Abnormal nervous system physiology	5192	PEX10	ORPHA:772
HP:0012638	Abnormal nervous system physiology	5192	PEX10	ORPHA:44
HP:0012638	Abnormal nervous system physiology	5192	PEX10	OMIM:614870
HP:0012638	Abnormal nervous system physiology	5192	PEX10	ORPHA:912
HP:0012638	Abnormal nervous system physiology	2658	GDF2	ORPHA:774
HP:0012638	Abnormal nervous system physiology	94	ACVRL1	ORPHA:774
HP:0012638	Abnormal nervous system physiology	94	ACVRL1	OMIM:600376
HP:0012638	Abnormal nervous system physiology	4089	SMAD4	ORPHA:774
HP:0012638	Abnormal nervous system physiology	4089	SMAD4	OMIM:139210
HP:0012638	Abnormal nervous system physiology	2022	ENG	ORPHA:774
HP:0012638	Abnormal nervous system physiology	2022	ENG	OMIM:187300
HP:0012638	Abnormal nervous system physiology	2022	ENG	ORPHA:231160
HP:0012638	Abnormal nervous system physiology	201595	STT3B	ORPHA:370924
HP:0012638	Abnormal nervous system physiology	201595	STT3B	OMIM:615597
HP:0012638	Abnormal nervous system physiology	6748	SSR4	ORPHA:370927
HP:0012638	Abnormal nervous system physiology	6748	SSR4	OMIM:300934
HP:0012638	Abnormal nervous system physiology	10084	PQBP1	OMIM:309500
HP:0012638	Abnormal nervous system physiology	10084	PQBP1	ORPHA:93947
HP:0012638	Abnormal nervous system physiology	340533	NEXMIF	ORPHA:85277
HP:0012638	Abnormal nervous system physiology	10479	SLC9A6	ORPHA:85278
HP:0012638	Abnormal nervous system physiology	10479	SLC9A6	OMIM:300243
HP:0012638	Abnormal nervous system physiology	8242	KDM5C	ORPHA:85279
HP:0012638	Abnormal nervous system physiology	8242	KDM5C	OMIM:300534
HP:0012638	Abnormal nervous system physiology	10273	STUB1	ORPHA:412057
HP:0012638	Abnormal nervous system physiology	8831	SYNGAP1	OMIM:612621
HP:0012638	Abnormal nervous system physiology	8831	SYNGAP1	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	54187	NANS	OMIM:610442
HP:0012638	Abnormal nervous system physiology	284058	KANSL1	OMIM:610443
HP:0012638	Abnormal nervous system physiology	284058	KANSL1	ORPHA:363958
HP:0012638	Abnormal nervous system physiology	284058	KANSL1	ORPHA:363965
HP:0012638	Abnormal nervous system physiology	1968	EIF2S3	ORPHA:85282
HP:0012638	Abnormal nervous system physiology	1968	EIF2S3	OMIM:300148
HP:0012638	Abnormal nervous system physiology	138050	HGSNAT	OMIM:252930
HP:0012638	Abnormal nervous system physiology	10020	GNE	ORPHA:3166
HP:0012638	Abnormal nervous system physiology	10020	GNE	OMIM:269921
HP:0012638	Abnormal nervous system physiology	81615	TMEM163	OMIM:620243
HP:0012638	Abnormal nervous system physiology	1376	CPT2	ORPHA:228305
HP:0012638	Abnormal nervous system physiology	1376	CPT2	ORPHA:228308
HP:0012638	Abnormal nervous system physiology	1376	CPT2	OMIM:600649
HP:0012638	Abnormal nervous system physiology	1376	CPT2	OMIM:614212
HP:0012638	Abnormal nervous system physiology	1376	CPT2	OMIM:608836
HP:0012638	Abnormal nervous system physiology	10079	ATP9A	OMIM:620242
HP:0012638	Abnormal nervous system physiology	124093	CCDC78	OMIM:614807
HP:0012638	Abnormal nervous system physiology	5903	RANBP2	OMIM:608033
HP:0012638	Abnormal nervous system physiology	5903	RANBP2	ORPHA:88619
HP:0012638	Abnormal nervous system physiology	126129	CPT1C	ORPHA:444099
HP:0012638	Abnormal nervous system physiology	1893	ECM1	OMIM:247100
HP:0012638	Abnormal nervous system physiology	1893	ECM1	ORPHA:530
HP:0012638	Abnormal nervous system physiology	170302	ARX	OMIM:309510
HP:0012638	Abnormal nervous system physiology	170302	ARX	ORPHA:1934
HP:0012638	Abnormal nervous system physiology	170302	ARX	OMIM:300004
HP:0012638	Abnormal nervous system physiology	170302	ARX	OMIM:300419
HP:0012638	Abnormal nervous system physiology	170302	ARX	ORPHA:2508
HP:0012638	Abnormal nervous system physiology	170302	ARX	ORPHA:94083
HP:0012638	Abnormal nervous system physiology	170302	ARX	ORPHA:452
HP:0012638	Abnormal nervous system physiology	170302	ARX	OMIM:300215
HP:0012638	Abnormal nervous system physiology	27445	PCLO	OMIM:608027
HP:0012638	Abnormal nervous system physiology	1373	CPS1	OMIM:237300
HP:0012638	Abnormal nervous system physiology	1373	CPS1	ORPHA:147
HP:0012638	Abnormal nervous system physiology	5696	PSMB8	OMIM:256040
HP:0012638	Abnormal nervous system physiology	4669	NAGLU	OMIM:252920
HP:0012638	Abnormal nervous system physiology	2260	FGFR1	ORPHA:3157
HP:0012638	Abnormal nervous system physiology	2260	FGFR1	ORPHA:2396
HP:0012638	Abnormal nervous system physiology	2260	FGFR1	OMIM:613001
HP:0012638	Abnormal nervous system physiology	2260	FGFR1	ORPHA:220386
HP:0012638	Abnormal nervous system physiology	2260	FGFR1	ORPHA:280200
HP:0012638	Abnormal nervous system physiology	2260	FGFR1	ORPHA:93924
HP:0012638	Abnormal nervous system physiology	2260	FGFR1	ORPHA:478
HP:0012638	Abnormal nervous system physiology	128674	PROKR2	ORPHA:3157
HP:0012638	Abnormal nervous system physiology	128674	PROKR2	ORPHA:95496
HP:0012638	Abnormal nervous system physiology	128674	PROKR2	OMIM:244200
HP:0012638	Abnormal nervous system physiology	128674	PROKR2	ORPHA:478
HP:0012638	Abnormal nervous system physiology	6657	SOX2	ORPHA:3157
HP:0012638	Abnormal nervous system physiology	6658	SOX3	ORPHA:3157
HP:0012638	Abnormal nervous system physiology	9915	ARNT2	ORPHA:3157
HP:0012638	Abnormal nervous system physiology	8820	HESX1	ORPHA:3157
HP:0012638	Abnormal nervous system physiology	8820	HESX1	ORPHA:95496
HP:0012638	Abnormal nervous system physiology	8820	HESX1	ORPHA:95494
HP:0012638	Abnormal nervous system physiology	8820	HESX1	ORPHA:478
HP:0012638	Abnormal nervous system physiology	5015	OTX2	ORPHA:3157
HP:0012638	Abnormal nervous system physiology	5015	OTX2	ORPHA:95494
HP:0012638	Abnormal nervous system physiology	5015	OTX2	OMIM:610125
HP:0012638	Abnormal nervous system physiology	5015	OTX2	OMIM:613986
HP:0012638	Abnormal nervous system physiology	283450	HECTD4	OMIM:620250
HP:0012638	Abnormal nervous system physiology	5138	PDE2A	OMIM:619150
HP:0012638	Abnormal nervous system physiology	5138	PDE2A	ORPHA:31709
HP:0012638	Abnormal nervous system physiology	4352	MPL	ORPHA:71493
HP:0012638	Abnormal nervous system physiology	7066	THPO	ORPHA:71493
HP:0012638	Abnormal nervous system physiology	3717	JAK2	ORPHA:71493
HP:0012638	Abnormal nervous system physiology	355	FAS	ORPHA:3261
HP:0012638	Abnormal nervous system physiology	355	FAS	ORPHA:117
HP:0012638	Abnormal nervous system physiology	356	FASLG	ORPHA:3261
HP:0012638	Abnormal nervous system physiology	843	CASP10	ORPHA:3261
HP:0012638	Abnormal nervous system physiology	6535	SLC6A8	OMIM:300352
HP:0012638	Abnormal nervous system physiology	6535	SLC6A8	ORPHA:52503
HP:0012638	Abnormal nervous system physiology	26960	NBEA	OMIM:619157
HP:0012638	Abnormal nervous system physiology	6309	SC5D	ORPHA:46059
HP:0012638	Abnormal nervous system physiology	894	CCND2	ORPHA:83473
HP:0012638	Abnormal nervous system physiology	5296	PIK3R2	ORPHA:83473
HP:0012638	Abnormal nervous system physiology	5296	PIK3R2	OMIM:603387
HP:0012638	Abnormal nervous system physiology	10000	AKT3	ORPHA:83473
HP:0012638	Abnormal nervous system physiology	10000	AKT3	ORPHA:99802
HP:0012638	Abnormal nervous system physiology	10000	AKT3	OMIM:615937
HP:0012638	Abnormal nervous system physiology	5885	RAD21	OMIM:614701
HP:0012638	Abnormal nervous system physiology	5885	RAD21	ORPHA:199
HP:0012638	Abnormal nervous system physiology	1593	CYP27A1	OMIM:213700
HP:0012638	Abnormal nervous system physiology	1593	CYP27A1	ORPHA:909
HP:0012638	Abnormal nervous system physiology	25821	MTO1	OMIM:614702
HP:0012638	Abnormal nervous system physiology	2896	GRN	OMIM:614706
HP:0012638	Abnormal nervous system physiology	55775	TDP1	ORPHA:94124
HP:0012638	Abnormal nervous system physiology	55775	TDP1	OMIM:607250
HP:0012638	Abnormal nervous system physiology	51816	ADA2	ORPHA:820
HP:0012638	Abnormal nervous system physiology	51816	ADA2	OMIM:182410
HP:0012638	Abnormal nervous system physiology	80144	FRAS1	OMIM:219000
HP:0012638	Abnormal nervous system physiology	5428	POLG	ORPHA:94125
HP:0012638	Abnormal nervous system physiology	5428	POLG	ORPHA:70595
HP:0012638	Abnormal nervous system physiology	5428	POLG	ORPHA:254892
HP:0012638	Abnormal nervous system physiology	5428	POLG	OMIM:613662
HP:0012638	Abnormal nervous system physiology	5428	POLG	OMIM:607459
HP:0012638	Abnormal nervous system physiology	64324	NSD1	ORPHA:821
HP:0012638	Abnormal nervous system physiology	64324	NSD1	OMIM:117550
HP:0012638	Abnormal nervous system physiology	64324	NSD1	ORPHA:228415
HP:0012638	Abnormal nervous system physiology	10297	APC2	ORPHA:821
HP:0012638	Abnormal nervous system physiology	10297	APC2	OMIM:617169
HP:0012638	Abnormal nervous system physiology	613	BCR	ORPHA:261330
HP:0012638	Abnormal nervous system physiology	1399	CRKL	ORPHA:261330
HP:0012638	Abnormal nervous system physiology	5594	MAPK1	ORPHA:261330
HP:0012638	Abnormal nervous system physiology	6392	SDHD	OMIM:619167
HP:0012638	Abnormal nervous system physiology	6392	SDHD	ORPHA:3208
HP:0012638	Abnormal nervous system physiology	6392	SDHD	ORPHA:201
HP:0012638	Abnormal nervous system physiology	79947	DHDDS	OMIM:613861
HP:0012638	Abnormal nervous system physiology	79947	DHDDS	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	9640	ZNF592	ORPHA:83472
HP:0012638	Abnormal nervous system physiology	84942	WDR73	ORPHA:83472
HP:0012638	Abnormal nervous system physiology	84942	WDR73	ORPHA:2065
HP:0012638	Abnormal nervous system physiology	84942	WDR73	OMIM:251300
HP:0012638	Abnormal nervous system physiology	224	ALDH3A2	ORPHA:816
HP:0012638	Abnormal nervous system physiology	224	ALDH3A2	OMIM:270200
HP:0012638	Abnormal nervous system physiology	2314	FLII	ORPHA:819
HP:0012638	Abnormal nervous system physiology	10743	RAI1	ORPHA:819
HP:0012638	Abnormal nervous system physiology	10743	RAI1	OMIM:182290
HP:0012638	Abnormal nervous system physiology	10522	DEAF1	ORPHA:819
HP:0012638	Abnormal nervous system physiology	10522	DEAF1	ORPHA:468620
HP:0012638	Abnormal nervous system physiology	1717	DHCR7	ORPHA:818
HP:0012638	Abnormal nervous system physiology	1717	DHCR7	OMIM:270400
HP:0012638	Abnormal nervous system physiology	5818	NECTIN1	ORPHA:3253
HP:0012638	Abnormal nervous system physiology	4758	NEU1	ORPHA:812
HP:0012638	Abnormal nervous system physiology	4758	NEU1	ORPHA:93399
HP:0012638	Abnormal nervous system physiology	4758	NEU1	ORPHA:93400
HP:0012638	Abnormal nervous system physiology	4758	NEU1	OMIM:256550
HP:0012638	Abnormal nervous system physiology	5290	PIK3CA	ORPHA:99802
HP:0012638	Abnormal nervous system physiology	5290	PIK3CA	ORPHA:201
HP:0012638	Abnormal nervous system physiology	5290	PIK3CA	ORPHA:140944
HP:0012638	Abnormal nervous system physiology	5290	PIK3CA	ORPHA:2495
HP:0012638	Abnormal nervous system physiology	5290	PIK3CA	OMIM:615108
HP:0012638	Abnormal nervous system physiology	5290	PIK3CA	ORPHA:144
HP:0012638	Abnormal nervous system physiology	5290	PIK3CA	OMIM:602501
HP:0012638	Abnormal nervous system physiology	5290	PIK3CA	ORPHA:221061
HP:0012638	Abnormal nervous system physiology	2475	MTOR	ORPHA:99802
HP:0012638	Abnormal nervous system physiology	2475	MTOR	ORPHA:457485
HP:0012638	Abnormal nervous system physiology	2475	MTOR	OMIM:616638
HP:0012638	Abnormal nervous system physiology	55780	ERMARD	ORPHA:75857
HP:0012638	Abnormal nervous system physiology	55780	ERMARD	OMIM:615544
HP:0012638	Abnormal nervous system physiology	150468	CKAP2L	ORPHA:3255
HP:0012638	Abnormal nervous system physiology	150468	CKAP2L	OMIM:272440
HP:0012638	Abnormal nervous system physiology	5979	RET	ORPHA:99803
HP:0012638	Abnormal nervous system physiology	429	ASCL1	ORPHA:99803
HP:0012638	Abnormal nervous system physiology	8929	PHOX2B	ORPHA:99803
HP:0012638	Abnormal nervous system physiology	8929	PHOX2B	ORPHA:661
HP:0012638	Abnormal nervous system physiology	8929	PHOX2B	ORPHA:2151
HP:0012638	Abnormal nervous system physiology	29072	SETD2	OMIM:620155
HP:0012638	Abnormal nervous system physiology	29072	SETD2	OMIM:616831
HP:0012638	Abnormal nervous system physiology	26153	KIF26A	OMIM:620156
HP:0012638	Abnormal nervous system physiology	58528	RRAGD	OMIM:620152
HP:0012638	Abnormal nervous system physiology	1185	CLCN6	OMIM:619173
HP:0012638	Abnormal nervous system physiology	3735	KARS1	ORPHA:3240
HP:0012638	Abnormal nervous system physiology	3735	KARS1	OMIM:619147
HP:0012638	Abnormal nervous system physiology	56992	KIF15	ORPHA:261323
HP:0012638	Abnormal nervous system physiology	4718	NDUFC2	OMIM:619170
HP:0012638	Abnormal nervous system physiology	2483	FRG1	OMIM:158900
HP:0012638	Abnormal nervous system physiology	2483	FRG1	ORPHA:269
HP:0012638	Abnormal nervous system physiology	1738	DLD	ORPHA:2394
HP:0012638	Abnormal nervous system physiology	1738	DLD	OMIM:246900
HP:0012638	Abnormal nervous system physiology	4001	LMNB1	OMIM:619179
HP:0012638	Abnormal nervous system physiology	55157	DARS2	ORPHA:137898
HP:0012638	Abnormal nervous system physiology	412	STS	ORPHA:281090
HP:0012638	Abnormal nervous system physiology	93627	TBCK	OMIM:616900
HP:0012638	Abnormal nervous system physiology	93627	TBCK	ORPHA:488632
HP:0012638	Abnormal nervous system physiology	129607	CMPK2	OMIM:621018
HP:0012638	Abnormal nervous system physiology	3845	KRAS	ORPHA:2396
HP:0012638	Abnormal nervous system physiology	3845	KRAS	ORPHA:144
HP:0012638	Abnormal nervous system physiology	3845	KRAS	OMIM:163200
HP:0012638	Abnormal nervous system physiology	3845	KRAS	ORPHA:2612
HP:0012638	Abnormal nervous system physiology	3845	KRAS	OMIM:600268
HP:0012638	Abnormal nervous system physiology	3845	KRAS	OMIM:609942
HP:0012638	Abnormal nervous system physiology	55858	TMEM165	OMIM:614727
HP:0012638	Abnormal nervous system physiology	3778	KCNMA1	OMIM:609446
HP:0012638	Abnormal nervous system physiology	64087	MCCC2	OMIM:210210
HP:0012638	Abnormal nervous system physiology	546	ATRX	ORPHA:847
HP:0012638	Abnormal nervous system physiology	546	ATRX	OMIM:309580
HP:0012638	Abnormal nervous system physiology	546	ATRX	OMIM:301040
HP:0012638	Abnormal nervous system physiology	54675	CRLS1	OMIM:620167
HP:0012638	Abnormal nervous system physiology	9184	BUB3	ORPHA:1052
HP:0012638	Abnormal nervous system physiology	699	BUB1	ORPHA:1052
HP:0012638	Abnormal nervous system physiology	9702	CEP57	ORPHA:1052
HP:0012638	Abnormal nervous system physiology	9319	TRIP13	ORPHA:1052
HP:0012638	Abnormal nervous system physiology	9319	TRIP13	OMIM:617598
HP:0012638	Abnormal nervous system physiology	701	BUB1B	ORPHA:1052
HP:0012638	Abnormal nervous system physiology	701	BUB1B	OMIM:257300
HP:0012638	Abnormal nervous system physiology	23036	ZNF292	OMIM:619188
HP:0012638	Abnormal nervous system physiology	55148	UBR7	OMIM:619189
HP:0012638	Abnormal nervous system physiology	23230	VPS13A	ORPHA:2388
HP:0012638	Abnormal nervous system physiology	23230	VPS13A	OMIM:200150
HP:0012638	Abnormal nervous system physiology	84342	COG8	ORPHA:95428
HP:0012638	Abnormal nervous system physiology	84342	COG8	OMIM:611182
HP:0012638	Abnormal nervous system physiology	11284	PNKP	OMIM:613402
HP:0012638	Abnormal nervous system physiology	11284	PNKP	ORPHA:1934
HP:0012638	Abnormal nervous system physiology	4915	NTRK2	OMIM:613886
HP:0012638	Abnormal nervous system physiology	4915	NTRK2	OMIM:617830
HP:0012638	Abnormal nervous system physiology	4915	NTRK2	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	56922	MCCC1	OMIM:210200
HP:0012638	Abnormal nervous system physiology	11160	ERLIN2	OMIM:611225
HP:0012638	Abnormal nervous system physiology	11160	ERLIN2	OMIM:620512
HP:0012638	Abnormal nervous system physiology	11160	ERLIN2	ORPHA:209951
HP:0012638	Abnormal nervous system physiology	54872	PIGG	OMIM:616917
HP:0012638	Abnormal nervous system physiology	54872	PIGG	ORPHA:280
HP:0012638	Abnormal nervous system physiology	54872	PIGG	ORPHA:488635
HP:0012638	Abnormal nervous system physiology	25942	SIN3A	OMIM:613406
HP:0012638	Abnormal nervous system physiology	25942	SIN3A	ORPHA:500166
HP:0012638	Abnormal nervous system physiology	175	AGA	ORPHA:93
HP:0012638	Abnormal nervous system physiology	175	AGA	OMIM:208400
HP:0012638	Abnormal nervous system physiology	7468	NSD2	OMIM:194190
HP:0012638	Abnormal nervous system physiology	7468	NSD2	ORPHA:280
HP:0012638	Abnormal nervous system physiology	10815	CPLX1	OMIM:194190
HP:0012638	Abnormal nervous system physiology	10815	CPLX1	ORPHA:280
HP:0012638	Abnormal nervous system physiology	10815	CPLX1	ORPHA:352582
HP:0012638	Abnormal nervous system physiology	10815	CPLX1	OMIM:617976
HP:0012638	Abnormal nervous system physiology	1487	CTBP1	OMIM:194190
HP:0012638	Abnormal nervous system physiology	1487	CTBP1	ORPHA:280
HP:0012638	Abnormal nervous system physiology	53834	FGFRL1	OMIM:194190
HP:0012638	Abnormal nervous system physiology	3954	LETM1	OMIM:194190
HP:0012638	Abnormal nervous system physiology	3954	LETM1	ORPHA:280
HP:0012638	Abnormal nervous system physiology	3954	LETM1	OMIM:620089
HP:0012638	Abnormal nervous system physiology	84947	SERAC1	OMIM:614739
HP:0012638	Abnormal nervous system physiology	23530	NNT	OMIM:614736
HP:0012638	Abnormal nervous system physiology	383	ARG1	ORPHA:90
HP:0012638	Abnormal nervous system physiology	383	ARG1	OMIM:207800
HP:0012638	Abnormal nervous system physiology	3769	KCNJ13	ORPHA:65
HP:0012638	Abnormal nervous system physiology	343035	RD3	ORPHA:65
HP:0012638	Abnormal nervous system physiology	145226	RDH12	ORPHA:65
HP:0012638	Abnormal nervous system physiology	1406	CRX	ORPHA:65
HP:0012638	Abnormal nervous system physiology	64802	NMNAT1	ORPHA:65
HP:0012638	Abnormal nervous system physiology	57096	RPGRIP1	ORPHA:65
HP:0012638	Abnormal nervous system physiology	10383	TUBB4B	ORPHA:65
HP:0012638	Abnormal nervous system physiology	9742	IFT140	ORPHA:65
HP:0012638	Abnormal nervous system physiology	9742	IFT140	OMIM:266920
HP:0012638	Abnormal nervous system physiology	85015	USP45	ORPHA:65
HP:0012638	Abnormal nervous system physiology	6121	RPE65	ORPHA:65
HP:0012638	Abnormal nervous system physiology	23418	CRB1	ORPHA:65
HP:0012638	Abnormal nervous system physiology	5130	PCYT1A	ORPHA:65
HP:0012638	Abnormal nervous system physiology	9657	IQCB1	ORPHA:65
HP:0012638	Abnormal nervous system physiology	392255	GDF6	ORPHA:65
HP:0012638	Abnormal nervous system physiology	23746	AIPL1	ORPHA:65
HP:0012638	Abnormal nervous system physiology	3000	GUCY2D	ORPHA:65
HP:0012638	Abnormal nervous system physiology	9227	LRAT	ORPHA:65
HP:0012638	Abnormal nervous system physiology	55812	SPATA7	ORPHA:65
HP:0012638	Abnormal nervous system physiology	7287	TULP1	ORPHA:65
HP:0012638	Abnormal nervous system physiology	167691	LCA5	ORPHA:65
HP:0012638	Abnormal nervous system physiology	3614	IMPDH1	ORPHA:65
HP:0012638	Abnormal nervous system physiology	7025	NR2F1	ORPHA:401777
HP:0012638	Abnormal nervous system physiology	56006	SMG9	OMIM:616920
HP:0012638	Abnormal nervous system physiology	51660	MPC1	OMIM:614741
HP:0012638	Abnormal nervous system physiology	27286	SRPX2	ORPHA:163721
HP:0012638	Abnormal nervous system physiology	27286	SRPX2	OMIM:300643
HP:0012638	Abnormal nervous system physiology	27286	SRPX2	ORPHA:98889
HP:0012638	Abnormal nervous system physiology	2903	GRIN2A	ORPHA:163721
HP:0012638	Abnormal nervous system physiology	2903	GRIN2A	ORPHA:725
HP:0012638	Abnormal nervous system physiology	2903	GRIN2A	OMIM:245570
HP:0012638	Abnormal nervous system physiology	2903	GRIN2A	ORPHA:98818
HP:0012638	Abnormal nervous system physiology	116442	RAB39B	ORPHA:2379
HP:0012638	Abnormal nervous system physiology	116442	RAB39B	OMIM:311510
HP:0012638	Abnormal nervous system physiology	116442	RAB39B	OMIM:300271
HP:0012638	Abnormal nervous system physiology	91754	NEK9	ORPHA:64754
HP:0012638	Abnormal nervous system physiology	10846	PDE10A	OMIM:616921
HP:0012638	Abnormal nervous system physiology	84720	PIGO	OMIM:614749
HP:0012638	Abnormal nervous system physiology	84720	PIGO	ORPHA:247262
HP:0012638	Abnormal nervous system physiology	89884	LHX4	ORPHA:95496
HP:0012638	Abnormal nervous system physiology	89884	LHX4	ORPHA:95494
HP:0012638	Abnormal nervous system physiology	55717	WDR11	ORPHA:95496
HP:0012638	Abnormal nervous system physiology	55717	WDR11	ORPHA:478
HP:0012638	Abnormal nervous system physiology	6091	ROBO1	ORPHA:95496
HP:0012638	Abnormal nervous system physiology	50937	CDON	ORPHA:95496
HP:0012638	Abnormal nervous system physiology	50937	CDON	ORPHA:220386
HP:0012638	Abnormal nervous system physiology	50937	CDON	ORPHA:280200
HP:0012638	Abnormal nervous system physiology	50937	CDON	ORPHA:93926
HP:0012638	Abnormal nervous system physiology	50937	CDON	ORPHA:93924
HP:0012638	Abnormal nervous system physiology	50937	CDON	ORPHA:93925
HP:0012638	Abnormal nervous system physiology	23432	GPR161	ORPHA:95496
HP:0012638	Abnormal nervous system physiology	80025	PANK2	OMIM:234200
HP:0012638	Abnormal nervous system physiology	80025	PANK2	ORPHA:216866
HP:0012638	Abnormal nervous system physiology	23137	SMC5	OMIM:620185
HP:0012638	Abnormal nervous system physiology	79759	ZNF668	OMIM:620194
HP:0012638	Abnormal nervous system physiology	283209	PGM2L1	OMIM:620191
HP:0012638	Abnormal nervous system physiology	3251	HPRT1	OMIM:300322
HP:0012638	Abnormal nervous system physiology	3251	HPRT1	ORPHA:79233
HP:0012638	Abnormal nervous system physiology	5626	PROP1	ORPHA:95494
HP:0012638	Abnormal nervous system physiology	5626	PROP1	OMIM:262600
HP:0012638	Abnormal nervous system physiology	3170	FOXA2	ORPHA:95494
HP:0012638	Abnormal nervous system physiology	5449	POU1F1	ORPHA:95494
HP:0012638	Abnormal nervous system physiology	8050	PDHX	OMIM:245349
HP:0012638	Abnormal nervous system physiology	8050	PDHX	ORPHA:255182
HP:0012638	Abnormal nervous system physiology	57465	TBC1D24	ORPHA:163727
HP:0012638	Abnormal nervous system physiology	57465	TBC1D24	OMIM:605021
HP:0012638	Abnormal nervous system physiology	57465	TBC1D24	ORPHA:352582
HP:0012638	Abnormal nervous system physiology	57465	TBC1D24	OMIM:220500
HP:0012638	Abnormal nervous system physiology	23522	KAT6B	ORPHA:85201
HP:0012638	Abnormal nervous system physiology	23522	KAT6B	ORPHA:3047
HP:0012638	Abnormal nervous system physiology	4256	MGP	ORPHA:85202
HP:0012638	Abnormal nervous system physiology	4256	MGP	OMIM:245150
HP:0012638	Abnormal nervous system physiology	23261	CAMTA1	OMIM:614756
HP:0012638	Abnormal nervous system physiology	2255	FGF10	ORPHA:2363
HP:0012638	Abnormal nervous system physiology	112476	PRRT2	OMIM:128200
HP:0012638	Abnormal nervous system physiology	112476	PRRT2	ORPHA:98811
HP:0012638	Abnormal nervous system physiology	112476	PRRT2	ORPHA:31709
HP:0012638	Abnormal nervous system physiology	112476	PRRT2	ORPHA:98809
HP:0012638	Abnormal nervous system physiology	6605	SMARCE1	OMIM:616938
HP:0012638	Abnormal nervous system physiology	6605	SMARCE1	ORPHA:1465
HP:0012638	Abnormal nervous system physiology	6605	SMARCE1	ORPHA:2495
HP:0012638	Abnormal nervous system physiology	388015	RTL1	ORPHA:96334
HP:0012638	Abnormal nervous system physiology	8788	DLK1	ORPHA:96334
HP:0012638	Abnormal nervous system physiology	55384	MEG3	ORPHA:96334
HP:0012638	Abnormal nervous system physiology	55343	SLC35C1	ORPHA:99843
HP:0012638	Abnormal nervous system physiology	158	ADSL	ORPHA:46
HP:0012638	Abnormal nervous system physiology	158	ADSL	OMIM:103050
HP:0012638	Abnormal nervous system physiology	51322	WAC	ORPHA:284169
HP:0012638	Abnormal nervous system physiology	51322	WAC	OMIM:616708
HP:0012638	Abnormal nervous system physiology	1013	CDH15	OMIM:612580
HP:0012638	Abnormal nervous system physiology	10735	STAG2	ORPHA:521258
HP:0012638	Abnormal nervous system physiology	10735	STAG2	ORPHA:220386
HP:0012638	Abnormal nervous system physiology	10735	STAG2	ORPHA:93925
HP:0012638	Abnormal nervous system physiology	10735	STAG2	OMIM:301043
HP:0012638	Abnormal nervous system physiology	6389	SDHA	ORPHA:3208
HP:0012638	Abnormal nervous system physiology	6389	SDHA	OMIM:252011
HP:0012638	Abnormal nervous system physiology	6390	SDHB	ORPHA:3208
HP:0012638	Abnormal nervous system physiology	6390	SDHB	ORPHA:201
HP:0012638	Abnormal nervous system physiology	644096	SDHAF1	ORPHA:3208
HP:0012638	Abnormal nervous system physiology	1374	CPT1A	OMIM:255120
HP:0012638	Abnormal nervous system physiology	1374	CPT1A	ORPHA:156
HP:0012638	Abnormal nervous system physiology	6611	SMS	OMIM:309583
HP:0012638	Abnormal nervous system physiology	3458	IFNG	ORPHA:805
HP:0012638	Abnormal nervous system physiology	3458	IFNG	OMIM:613254
HP:0012638	Abnormal nervous system physiology	7248	TSC1	ORPHA:805
HP:0012638	Abnormal nervous system physiology	7248	TSC1	ORPHA:538
HP:0012638	Abnormal nervous system physiology	7248	TSC1	OMIM:191100
HP:0012638	Abnormal nervous system physiology	7249	TSC2	ORPHA:805
HP:0012638	Abnormal nervous system physiology	7249	TSC2	ORPHA:538
HP:0012638	Abnormal nervous system physiology	7249	TSC2	OMIM:613254
HP:0012638	Abnormal nervous system physiology	5663	PSEN1	ORPHA:1020
HP:0012638	Abnormal nervous system physiology	5663	PSEN1	OMIM:607822
HP:0012638	Abnormal nervous system physiology	5664	PSEN2	ORPHA:1020
HP:0012638	Abnormal nervous system physiology	10452	TOMM40	ORPHA:1020
HP:0012638	Abnormal nervous system physiology	351	APP	ORPHA:1020
HP:0012638	Abnormal nervous system physiology	351	APP	ORPHA:324713
HP:0012638	Abnormal nervous system physiology	351	APP	ORPHA:100006
HP:0012638	Abnormal nervous system physiology	54209	TREM2	ORPHA:1020
HP:0012638	Abnormal nervous system physiology	54209	TREM2	ORPHA:2770
HP:0012638	Abnormal nervous system physiology	54209	TREM2	OMIM:618193
HP:0012638	Abnormal nervous system physiology	10347	ABCA7	ORPHA:1020
HP:0012638	Abnormal nervous system physiology	6653	SORL1	ORPHA:1020
HP:0012638	Abnormal nervous system physiology	147372	CCBE1	OMIM:235510
HP:0012638	Abnormal nervous system physiology	147372	CCBE1	ORPHA:2136
HP:0012638	Abnormal nervous system physiology	2776	GNAQ	ORPHA:3205
HP:0012638	Abnormal nervous system physiology	2776	GNAQ	ORPHA:624
HP:0012638	Abnormal nervous system physiology	2776	GNAQ	OMIM:185300
HP:0012638	Abnormal nervous system physiology	6567	SLC16A2	ORPHA:59
HP:0012638	Abnormal nervous system physiology	3897	L1CAM	ORPHA:1497
HP:0012638	Abnormal nervous system physiology	3897	L1CAM	OMIM:304100
HP:0012638	Abnormal nervous system physiology	3897	L1CAM	ORPHA:2182
HP:0012638	Abnormal nervous system physiology	22907	DHX30	OMIM:617804
HP:0012638	Abnormal nervous system physiology	9990	SLC12A6	ORPHA:1496
HP:0012638	Abnormal nervous system physiology	9990	SLC12A6	OMIM:620068
HP:0012638	Abnormal nervous system physiology	9990	SLC12A6	OMIM:218000
HP:0012638	Abnormal nervous system physiology	7407	VARS1	OMIM:617802
HP:0012638	Abnormal nervous system physiology	9894	TELO2	OMIM:616954
HP:0012638	Abnormal nervous system physiology	9894	TELO2	ORPHA:488642
HP:0012638	Abnormal nervous system physiology	57724	EPG5	ORPHA:1493
HP:0012638	Abnormal nervous system physiology	57724	EPG5	OMIM:242840
HP:0012638	Abnormal nervous system physiology	196528	ARID2	OMIM:617808
HP:0012638	Abnormal nervous system physiology	196528	ARID2	ORPHA:1465
HP:0012638	Abnormal nervous system physiology	10535	RNASEH2A	ORPHA:51
HP:0012638	Abnormal nervous system physiology	10535	RNASEH2A	OMIM:610333
HP:0012638	Abnormal nervous system physiology	84153	RNASEH2C	ORPHA:51
HP:0012638	Abnormal nervous system physiology	25939	SAMHD1	ORPHA:51
HP:0012638	Abnormal nervous system physiology	79621	RNASEH2B	ORPHA:51
HP:0012638	Abnormal nervous system physiology	103	ADAR	ORPHA:51
HP:0012638	Abnormal nervous system physiology	100147744	RNU7-1	ORPHA:51
HP:0012638	Abnormal nervous system physiology	100147744	RNU7-1	OMIM:619487
HP:0012638	Abnormal nervous system physiology	134353	LSM11	ORPHA:51
HP:0012638	Abnormal nervous system physiology	134353	LSM11	OMIM:619486
HP:0012638	Abnormal nervous system physiology	64135	IFIH1	ORPHA:51
HP:0012638	Abnormal nervous system physiology	64135	IFIH1	OMIM:615846
HP:0012638	Abnormal nervous system physiology	56052	ALG1	OMIM:608540
HP:0012638	Abnormal nervous system physiology	56052	ALG1	ORPHA:79327
HP:0012638	Abnormal nervous system physiology	11128	POLR3A	OMIM:607694
HP:0012638	Abnormal nervous system physiology	11128	POLR3A	ORPHA:3455
HP:0012638	Abnormal nervous system physiology	55703	POLR3B	OMIM:607694
HP:0012638	Abnormal nervous system physiology	55703	POLR3B	OMIM:619742
HP:0012638	Abnormal nervous system physiology	10075	HUWE1	OMIM:309590
HP:0012638	Abnormal nervous system physiology	132	ADK	OMIM:614300
HP:0012638	Abnormal nervous system physiology	2290	FOXG1	OMIM:613454
HP:0012638	Abnormal nervous system physiology	2290	FOXG1	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	2290	FOXG1	ORPHA:261144
HP:0012638	Abnormal nervous system physiology	79848	CSPP1	OMIM:615636
HP:0012638	Abnormal nervous system physiology	79848	CSPP1	ORPHA:475
HP:0012638	Abnormal nervous system physiology	6513	SLC2A1	OMIM:612126
HP:0012638	Abnormal nervous system physiology	6513	SLC2A1	OMIM:606777
HP:0012638	Abnormal nervous system physiology	6513	SLC2A1	ORPHA:168577
HP:0012638	Abnormal nervous system physiology	6513	SLC2A1	OMIM:608885
HP:0012638	Abnormal nervous system physiology	6513	SLC2A1	ORPHA:71277
HP:0012638	Abnormal nervous system physiology	6513	SLC2A1	ORPHA:98811
HP:0012638	Abnormal nervous system physiology	29123	ANKRD11	ORPHA:2332
HP:0012638	Abnormal nervous system physiology	29123	ANKRD11	ORPHA:261250
HP:0012638	Abnormal nervous system physiology	29123	ANKRD11	OMIM:148050
HP:0012638	Abnormal nervous system physiology	9759	HDAC4	ORPHA:1001
HP:0012638	Abnormal nervous system physiology	9759	HDAC4	OMIM:600430
HP:0012638	Abnormal nervous system physiology	9759	HDAC4	OMIM:619797
HP:0012638	Abnormal nervous system physiology	23600	AMACR	OMIM:614307
HP:0012638	Abnormal nervous system physiology	23600	AMACR	ORPHA:79095
HP:0012638	Abnormal nervous system physiology	6261	RYR1	ORPHA:466650
HP:0012638	Abnormal nervous system physiology	50943	FOXP3	OMIM:304790
HP:0012638	Abnormal nervous system physiology	5279	PIGC	OMIM:617816
HP:0012638	Abnormal nervous system physiology	91147	TMEM67	OMIM:216360
HP:0012638	Abnormal nervous system physiology	91147	TMEM67	ORPHA:1454
HP:0012638	Abnormal nervous system physiology	91147	TMEM67	ORPHA:475
HP:0012638	Abnormal nervous system physiology	26580	BSCL2	ORPHA:363400
HP:0012638	Abnormal nervous system physiology	26580	BSCL2	OMIM:615924
HP:0012638	Abnormal nervous system physiology	84162	BLTP1	OMIM:617822
HP:0012638	Abnormal nervous system physiology	1806	DPYD	OMIM:274270
HP:0012638	Abnormal nervous system physiology	1806	DPYD	ORPHA:1675
HP:0012638	Abnormal nervous system physiology	2902	GRIN1	OMIM:617820
HP:0012638	Abnormal nervous system physiology	2902	GRIN1	ORPHA:1934
HP:0012638	Abnormal nervous system physiology	2902	GRIN1	OMIM:614254
HP:0012638	Abnormal nervous system physiology	2902	GRIN1	OMIM:619814
HP:0012638	Abnormal nervous system physiology	2782	GNB1	OMIM:616973
HP:0012638	Abnormal nervous system physiology	2782	GNB1	ORPHA:488613
HP:0012638	Abnormal nervous system physiology	8085	KMT2D	ORPHA:2322
HP:0012638	Abnormal nervous system physiology	8085	KMT2D	OMIM:147920
HP:0012638	Abnormal nervous system physiology	7403	KDM6A	ORPHA:2322
HP:0012638	Abnormal nervous system physiology	7403	KDM6A	OMIM:300867
HP:0012638	Abnormal nervous system physiology	7403	KDM6A	OMIM:147920
HP:0012638	Abnormal nervous system physiology	3097	HIVEP2	OMIM:616977
HP:0012638	Abnormal nervous system physiology	2561	GABRB2	OMIM:617829
HP:0012638	Abnormal nervous system physiology	2561	GABRB2	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	6638	SNRPN	ORPHA:177904
HP:0012638	Abnormal nervous system physiology	6638	SNRPN	ORPHA:177901
HP:0012638	Abnormal nervous system physiology	6638	SNRPN	ORPHA:177907
HP:0012638	Abnormal nervous system physiology	6638	SNRPN	ORPHA:411515
HP:0012638	Abnormal nervous system physiology	6638	SNRPN	OMIM:105830
HP:0012638	Abnormal nervous system physiology	6638	SNRPN	ORPHA:98754
HP:0012638	Abnormal nervous system physiology	6638	SNRPN	OMIM:209850
HP:0012638	Abnormal nervous system physiology	4692	NDN	ORPHA:177904
HP:0012638	Abnormal nervous system physiology	4692	NDN	ORPHA:177901
HP:0012638	Abnormal nervous system physiology	4692	NDN	ORPHA:98754
HP:0012638	Abnormal nervous system physiology	4948	OCA2	ORPHA:177904
HP:0012638	Abnormal nervous system physiology	4948	OCA2	ORPHA:177901
HP:0012638	Abnormal nervous system physiology	4948	OCA2	ORPHA:98794
HP:0012638	Abnormal nervous system physiology	4948	OCA2	ORPHA:98754
HP:0012638	Abnormal nervous system physiology	2332	FMR1	ORPHA:449291
HP:0012638	Abnormal nervous system physiology	2332	FMR1	OMIM:300624
HP:0012638	Abnormal nervous system physiology	2332	FMR1	ORPHA:908
HP:0012638	Abnormal nervous system physiology	55906	ZC4H2	OMIM:314580
HP:0012638	Abnormal nervous system physiology	10560	SLC19A2	OMIM:249270
HP:0012638	Abnormal nervous system physiology	2068	ERCC2	ORPHA:1466
HP:0012638	Abnormal nervous system physiology	2068	ERCC2	ORPHA:910
HP:0012638	Abnormal nervous system physiology	2067	ERCC1	ORPHA:1466
HP:0012638	Abnormal nervous system physiology	2073	ERCC5	ORPHA:1466
HP:0012638	Abnormal nervous system physiology	2073	ERCC5	ORPHA:910
HP:0012638	Abnormal nervous system physiology	116150	NUS1	OMIM:617831
HP:0012638	Abnormal nervous system physiology	116150	NUS1	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	6597	SMARCA4	ORPHA:1465
HP:0012638	Abnormal nervous system physiology	6597	SMARCA4	OMIM:614609
HP:0012638	Abnormal nervous system physiology	6598	SMARCB1	ORPHA:1465
HP:0012638	Abnormal nervous system physiology	6598	SMARCB1	OMIM:614608
HP:0012638	Abnormal nervous system physiology	6598	SMARCB1	ORPHA:2495
HP:0012638	Abnormal nervous system physiology	6598	SMARCB1	ORPHA:99966
HP:0012638	Abnormal nervous system physiology	6598	SMARCB1	ORPHA:93921
HP:0012638	Abnormal nervous system physiology	6659	SOX4	ORPHA:1465
HP:0012638	Abnormal nervous system physiology	8289	ARID1A	ORPHA:1465
HP:0012638	Abnormal nervous system physiology	8289	ARID1A	OMIM:614607
HP:0012638	Abnormal nervous system physiology	5977	DPF2	ORPHA:1465
HP:0012638	Abnormal nervous system physiology	6602	SMARCD1	ORPHA:1465
HP:0012638	Abnormal nervous system physiology	57492	ARID1B	ORPHA:1465
HP:0012638	Abnormal nervous system physiology	57492	ARID1B	ORPHA:251056
HP:0012638	Abnormal nervous system physiology	57492	ARID1B	OMIM:135900
HP:0012638	Abnormal nervous system physiology	6664	SOX11	ORPHA:1465
HP:0012638	Abnormal nervous system physiology	6709	SPTAN1	OMIM:613477
HP:0012638	Abnormal nervous system physiology	6709	SPTAN1	OMIM:620538
HP:0012638	Abnormal nervous system physiology	6709	SPTAN1	OMIM:620540
HP:0012638	Abnormal nervous system physiology	4358	MPV17	OMIM:256810
HP:0012638	Abnormal nervous system physiology	6663	SOX10	ORPHA:163746
HP:0012638	Abnormal nervous system physiology	6663	SOX10	OMIM:609136
HP:0012638	Abnormal nervous system physiology	6663	SOX10	ORPHA:478
HP:0012638	Abnormal nervous system physiology	2911	GRM1	ORPHA:324262
HP:0012638	Abnormal nervous system physiology	2911	GRM1	OMIM:614831
HP:0012638	Abnormal nervous system physiology	79583	TMEM231	ORPHA:2318
HP:0012638	Abnormal nervous system physiology	79583	TMEM231	ORPHA:2754
HP:0012638	Abnormal nervous system physiology	51524	TMEM138	ORPHA:2318
HP:0012638	Abnormal nervous system physiology	23090	ZNF423	ORPHA:2318
HP:0012638	Abnormal nervous system physiology	57545	CC2D2A	ORPHA:2318
HP:0012638	Abnormal nervous system physiology	57545	CC2D2A	ORPHA:1454
HP:0012638	Abnormal nervous system physiology	57545	CC2D2A	OMIM:612285
HP:0012638	Abnormal nervous system physiology	7050	TGIF1	OMIM:142946
HP:0012638	Abnormal nervous system physiology	7050	TGIF1	ORPHA:220386
HP:0012638	Abnormal nervous system physiology	7050	TGIF1	ORPHA:280200
HP:0012638	Abnormal nervous system physiology	7050	TGIF1	ORPHA:93926
HP:0012638	Abnormal nervous system physiology	7050	TGIF1	ORPHA:93924
HP:0012638	Abnormal nervous system physiology	7050	TGIF1	ORPHA:93925
HP:0012638	Abnormal nervous system physiology	7098	TLR3	OMIM:613002
HP:0012638	Abnormal nervous system physiology	7098	TLR3	ORPHA:1930
HP:0012638	Abnormal nervous system physiology	545	ATR	OMIM:210600
HP:0012638	Abnormal nervous system physiology	128637	TBC1D20	OMIM:615663
HP:0012638	Abnormal nervous system physiology	128637	TBC1D20	ORPHA:2510
HP:0012638	Abnormal nervous system physiology	25839	COG4	OMIM:613489
HP:0012638	Abnormal nervous system physiology	2313	FLI1	ORPHA:2308
HP:0012638	Abnormal nervous system physiology	2313	FLI1	ORPHA:370348
HP:0012638	Abnormal nervous system physiology	10367	MICU1	OMIM:615673
HP:0012638	Abnormal nervous system physiology	1213	CLTC	OMIM:617854
HP:0012638	Abnormal nervous system physiology	1213	CLTC	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	7305	TYROBP	ORPHA:2770
HP:0012638	Abnormal nervous system physiology	7305	TYROBP	OMIM:221770
HP:0012638	Abnormal nervous system physiology	8936	WASF1	OMIM:618707
HP:0012638	Abnormal nervous system physiology	11235	PDCD10	OMIM:603285
HP:0012638	Abnormal nervous system physiology	11235	PDCD10	ORPHA:221061
HP:0012638	Abnormal nervous system physiology	6697	SPR	ORPHA:70594
HP:0012638	Abnormal nervous system physiology	6697	SPR	OMIM:612716
HP:0012638	Abnormal nervous system physiology	28514	DLL1	OMIM:618709
HP:0012638	Abnormal nervous system physiology	28514	DLL1	ORPHA:220386
HP:0012638	Abnormal nervous system physiology	28514	DLL1	ORPHA:280200
HP:0012638	Abnormal nervous system physiology	28514	DLL1	ORPHA:93926
HP:0012638	Abnormal nervous system physiology	28514	DLL1	ORPHA:93924
HP:0012638	Abnormal nervous system physiology	28514	DLL1	ORPHA:93925
HP:0012638	Abnormal nervous system physiology	83605	CCM2	OMIM:603284
HP:0012638	Abnormal nervous system physiology	83605	CCM2	ORPHA:221061
HP:0012638	Abnormal nervous system physiology	6134	RPL10	ORPHA:435938
HP:0012638	Abnormal nervous system physiology	6134	RPL10	OMIM:300998
HP:0012638	Abnormal nervous system physiology	6134	RPL10	ORPHA:459070
HP:0012638	Abnormal nervous system physiology	23556	PIGN	ORPHA:280633
HP:0012638	Abnormal nervous system physiology	23556	PIGN	ORPHA:2059
HP:0012638	Abnormal nervous system physiology	23556	PIGN	OMIM:614080
HP:0012638	Abnormal nervous system physiology	2893	GRIA4	OMIM:617864
HP:0012638	Abnormal nervous system physiology	3661	IRF3	OMIM:616532
HP:0012638	Abnormal nervous system physiology	60482	SLC5A7	ORPHA:98914
HP:0012638	Abnormal nervous system physiology	4649	MYO9A	ORPHA:98914
HP:0012638	Abnormal nervous system physiology	1305	COL13A1	ORPHA:98914
HP:0012638	Abnormal nervous system physiology	1103	CHAT	ORPHA:98914
HP:0012638	Abnormal nervous system physiology	6576	SLC25A1	ORPHA:98914
HP:0012638	Abnormal nervous system physiology	6576	SLC25A1	OMIM:615182
HP:0012638	Abnormal nervous system physiology	6843	VAMP1	ORPHA:98914
HP:0012638	Abnormal nervous system physiology	6843	VAMP1	ORPHA:251282
HP:0012638	Abnormal nervous system physiology	375790	AGRN	ORPHA:98914
HP:0012638	Abnormal nervous system physiology	127833	SYT2	ORPHA:98914
HP:0012638	Abnormal nervous system physiology	6572	SLC18A3	ORPHA:98914
HP:0012638	Abnormal nervous system physiology	6616	SNAP25	ORPHA:98914
HP:0012638	Abnormal nervous system physiology	84628	NTNG2	OMIM:618718
HP:0012638	Abnormal nervous system physiology	5456	POU3F4	ORPHA:1435
HP:0012638	Abnormal nervous system physiology	139285	AMER1	OMIM:300373
HP:0012638	Abnormal nervous system physiology	51	ACOX1	OMIM:264470
HP:0012638	Abnormal nervous system physiology	51	ACOX1	ORPHA:2971
HP:0012638	Abnormal nervous system physiology	51	ACOX1	OMIM:618960
HP:0012638	Abnormal nervous system physiology	4094	MAF	OMIM:601088
HP:0012638	Abnormal nervous system physiology	4094	MAF	ORPHA:1272
HP:0012638	Abnormal nervous system physiology	10577	NPC2	OMIM:607625
HP:0012638	Abnormal nervous system physiology	5873	RAB27A	OMIM:607624
HP:0012638	Abnormal nervous system physiology	5873	RAB27A	ORPHA:79477
HP:0012638	Abnormal nervous system physiology	51317	PHF21A	OMIM:618725
HP:0012638	Abnormal nervous system physiology	51317	PHF21A	ORPHA:52022
HP:0012638	Abnormal nervous system physiology	2253	FGF8	ORPHA:220386
HP:0012638	Abnormal nervous system physiology	2253	FGF8	ORPHA:280200
HP:0012638	Abnormal nervous system physiology	2253	FGF8	ORPHA:93926
HP:0012638	Abnormal nervous system physiology	2253	FGF8	ORPHA:93924
HP:0012638	Abnormal nervous system physiology	2253	FGF8	ORPHA:93925
HP:0012638	Abnormal nervous system physiology	2253	FGF8	ORPHA:478
HP:0012638	Abnormal nervous system physiology	8243	SMC1A	ORPHA:220386
HP:0012638	Abnormal nervous system physiology	8243	SMC1A	OMIM:300590
HP:0012638	Abnormal nervous system physiology	8243	SMC1A	OMIM:301044
HP:0012638	Abnormal nervous system physiology	8243	SMC1A	ORPHA:199
HP:0012638	Abnormal nervous system physiology	8243	SMC1A	ORPHA:3095
HP:0012638	Abnormal nervous system physiology	6496	SIX3	ORPHA:220386
HP:0012638	Abnormal nervous system physiology	6496	SIX3	OMIM:157170
HP:0012638	Abnormal nervous system physiology	6496	SIX3	ORPHA:280200
HP:0012638	Abnormal nervous system physiology	6496	SIX3	ORPHA:93926
HP:0012638	Abnormal nervous system physiology	6496	SIX3	ORPHA:93924
HP:0012638	Abnormal nervous system physiology	6496	SIX3	ORPHA:93925
HP:0012638	Abnormal nervous system physiology	4838	NODAL	ORPHA:220386
HP:0012638	Abnormal nervous system physiology	4838	NODAL	ORPHA:280200
HP:0012638	Abnormal nervous system physiology	4838	NODAL	ORPHA:93926
HP:0012638	Abnormal nervous system physiology	4838	NODAL	ORPHA:93924
HP:0012638	Abnormal nervous system physiology	4838	NODAL	ORPHA:93925
HP:0012638	Abnormal nervous system physiology	6469	SHH	ORPHA:220386
HP:0012638	Abnormal nervous system physiology	6469	SHH	ORPHA:280200
HP:0012638	Abnormal nervous system physiology	6469	SHH	ORPHA:93926
HP:0012638	Abnormal nervous system physiology	6469	SHH	ORPHA:93924
HP:0012638	Abnormal nervous system physiology	6469	SHH	ORPHA:93925
HP:0012638	Abnormal nervous system physiology	7546	ZIC2	ORPHA:220386
HP:0012638	Abnormal nervous system physiology	7546	ZIC2	ORPHA:280200
HP:0012638	Abnormal nervous system physiology	7546	ZIC2	ORPHA:93926
HP:0012638	Abnormal nervous system physiology	7546	ZIC2	ORPHA:93924
HP:0012638	Abnormal nervous system physiology	7546	ZIC2	ORPHA:93925
HP:0012638	Abnormal nervous system physiology	7546	ZIC2	OMIM:609637
HP:0012638	Abnormal nervous system physiology	6491	STIL	ORPHA:220386
HP:0012638	Abnormal nervous system physiology	6491	STIL	ORPHA:93926
HP:0012638	Abnormal nervous system physiology	6491	STIL	ORPHA:93924
HP:0012638	Abnormal nervous system physiology	6491	STIL	ORPHA:93925
HP:0012638	Abnormal nervous system physiology	6491	STIL	OMIM:612703
HP:0012638	Abnormal nervous system physiology	2619	GAS1	ORPHA:220386
HP:0012638	Abnormal nervous system physiology	2619	GAS1	ORPHA:280200
HP:0012638	Abnormal nervous system physiology	2619	GAS1	ORPHA:93926
HP:0012638	Abnormal nervous system physiology	2619	GAS1	ORPHA:93924
HP:0012638	Abnormal nervous system physiology	2619	GAS1	ORPHA:93925
HP:0012638	Abnormal nervous system physiology	84976	DISP1	ORPHA:220386
HP:0012638	Abnormal nervous system physiology	84976	DISP1	ORPHA:280200
HP:0012638	Abnormal nervous system physiology	84976	DISP1	ORPHA:93926
HP:0012638	Abnormal nervous system physiology	84976	DISP1	ORPHA:93924
HP:0012638	Abnormal nervous system physiology	84976	DISP1	ORPHA:93925
HP:0012638	Abnormal nervous system physiology	8928	FOXH1	ORPHA:220386
HP:0012638	Abnormal nervous system physiology	8928	FOXH1	ORPHA:280200
HP:0012638	Abnormal nervous system physiology	8928	FOXH1	ORPHA:93926
HP:0012638	Abnormal nervous system physiology	8928	FOXH1	ORPHA:93924
HP:0012638	Abnormal nervous system physiology	8928	FOXH1	ORPHA:93925
HP:0012638	Abnormal nervous system physiology	6997	CRIPTO	ORPHA:220386
HP:0012638	Abnormal nervous system physiology	6997	CRIPTO	ORPHA:280200
HP:0012638	Abnormal nervous system physiology	6997	CRIPTO	ORPHA:93926
HP:0012638	Abnormal nervous system physiology	6997	CRIPTO	ORPHA:93924
HP:0012638	Abnormal nervous system physiology	6997	CRIPTO	ORPHA:93925
HP:0012638	Abnormal nervous system physiology	2806	GOT2	OMIM:618721
HP:0012638	Abnormal nervous system physiology	8777	MPDZ	OMIM:615219
HP:0012638	Abnormal nervous system physiology	8481	OFD1	ORPHA:2750
HP:0012638	Abnormal nervous system physiology	8481	OFD1	ORPHA:2754
HP:0012638	Abnormal nervous system physiology	8481	OFD1	OMIM:311200
HP:0012638	Abnormal nervous system physiology	8481	OFD1	ORPHA:475
HP:0012638	Abnormal nervous system physiology	10210	TOPORS	ORPHA:2754
HP:0012638	Abnormal nervous system physiology	9851	KIAA0753	ORPHA:2754
HP:0012638	Abnormal nervous system physiology	9851	KIAA0753	ORPHA:475
HP:0012638	Abnormal nervous system physiology	26123	TCTN3	ORPHA:2754
HP:0012638	Abnormal nervous system physiology	26123	TCTN3	ORPHA:475
HP:0012638	Abnormal nervous system physiology	5147	PDE6D	ORPHA:2754
HP:0012638	Abnormal nervous system physiology	5147	PDE6D	ORPHA:475
HP:0012638	Abnormal nervous system physiology	65250	CPLANE1	ORPHA:2754
HP:0012638	Abnormal nervous system physiology	65250	CPLANE1	ORPHA:475
HP:0012638	Abnormal nervous system physiology	374654	KIF7	ORPHA:2754
HP:0012638	Abnormal nervous system physiology	374654	KIF7	OMIM:200990
HP:0012638	Abnormal nervous system physiology	11133	KPTN	ORPHA:397612
HP:0012638	Abnormal nervous system physiology	51075	TMX2	OMIM:618730
HP:0012638	Abnormal nervous system physiology	57647	DHX37	OMIM:618731
HP:0012638	Abnormal nervous system physiology	64221	ROBO3	ORPHA:2744
HP:0012638	Abnormal nervous system physiology	1630	DCC	ORPHA:2744
HP:0012638	Abnormal nervous system physiology	1630	DCC	OMIM:617542
HP:0012638	Abnormal nervous system physiology	1630	DCC	ORPHA:478
HP:0012638	Abnormal nervous system physiology	80169	CTC1	OMIM:612199
HP:0012638	Abnormal nervous system physiology	51763	INPP5K	OMIM:617404
HP:0012638	Abnormal nervous system physiology	2212	FCGR2A	OMIM:152700
HP:0012638	Abnormal nervous system physiology	2213	FCGR2B	OMIM:152700
HP:0012638	Abnormal nervous system physiology	2213	FCGR2B	ORPHA:536
HP:0012638	Abnormal nervous system physiology	26191	PTPN22	OMIM:152700
HP:0012638	Abnormal nervous system physiology	26191	PTPN22	ORPHA:536
HP:0012638	Abnormal nervous system physiology	26191	PTPN22	ORPHA:900
HP:0012638	Abnormal nervous system physiology	1493	CTLA4	OMIM:152700
HP:0012638	Abnormal nervous system physiology	1493	CTLA4	ORPHA:536
HP:0012638	Abnormal nervous system physiology	1493	CTLA4	ORPHA:900
HP:0012638	Abnormal nervous system physiology	1773	DNASE1	OMIM:152700
HP:0012638	Abnormal nervous system physiology	1773	DNASE1	ORPHA:536
HP:0012638	Abnormal nervous system physiology	523	ATP6V1A	OMIM:617403
HP:0012638	Abnormal nervous system physiology	523	ATP6V1A	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	523	ATP6V1A	ORPHA:357074
HP:0012638	Abnormal nervous system physiology	7337	UBE3A	ORPHA:411511
HP:0012638	Abnormal nervous system physiology	7337	UBE3A	ORPHA:411515
HP:0012638	Abnormal nervous system physiology	7337	UBE3A	OMIM:105830
HP:0012638	Abnormal nervous system physiology	7337	UBE3A	ORPHA:238446
HP:0012638	Abnormal nervous system physiology	7337	UBE3A	ORPHA:98794
HP:0012638	Abnormal nervous system physiology	7337	UBE3A	ORPHA:98795
HP:0012638	Abnormal nervous system physiology	498	ATP5F1A	OMIM:615228
HP:0012638	Abnormal nervous system physiology	498	ATP5F1A	OMIM:616045
HP:0012638	Abnormal nervous system physiology	498	ATP5F1A	ORPHA:254913
HP:0012638	Abnormal nervous system physiology	57194	ATP10A	ORPHA:411515
HP:0012638	Abnormal nervous system physiology	56978	PRDM8	ORPHA:324290
HP:0012638	Abnormal nervous system physiology	56978	PRDM8	OMIM:616640
HP:0012638	Abnormal nervous system physiology	4982	TNFRSF11B	ORPHA:1416
HP:0012638	Abnormal nervous system physiology	56172	ANKH	ORPHA:1416
HP:0012638	Abnormal nervous system physiology	3759	KCNJ2	ORPHA:37553
HP:0012638	Abnormal nervous system physiology	85465	SELENOI	ORPHA:506353
HP:0012638	Abnormal nervous system physiology	2811	GP1BA	ORPHA:274
HP:0012638	Abnormal nervous system physiology	2812	GP1BB	ORPHA:274
HP:0012638	Abnormal nervous system physiology	2812	GP1BB	ORPHA:567
HP:0012638	Abnormal nervous system physiology	2815	GP9	ORPHA:274
HP:0012638	Abnormal nervous system physiology	10617	STAMBP	OMIM:614261
HP:0012638	Abnormal nervous system physiology	8367	H4C5	OMIM:619950
HP:0012638	Abnormal nervous system physiology	229	ALDOB	OMIM:229600
HP:0012638	Abnormal nervous system physiology	229	ALDOB	ORPHA:469
HP:0012638	Abnormal nervous system physiology	3703	STT3A	OMIM:615596
HP:0012638	Abnormal nervous system physiology	3703	STT3A	ORPHA:370921
HP:0012638	Abnormal nervous system physiology	343450	KCNT2	OMIM:617771
HP:0012638	Abnormal nervous system physiology	55627	SMPD4	OMIM:618622
HP:0012638	Abnormal nervous system physiology	23417	MLYCD	OMIM:248360
HP:0012638	Abnormal nervous system physiology	81857	MED25	OMIM:616449
HP:0012638	Abnormal nervous system physiology	81857	MED25	ORPHA:464738
HP:0012638	Abnormal nervous system physiology	5361	PLXNA1	OMIM:619955
HP:0012638	Abnormal nervous system physiology	4693	NDP	OMIM:310600
HP:0012638	Abnormal nervous system physiology	4693	NDP	ORPHA:649
HP:0012638	Abnormal nervous system physiology	4047	LSS	ORPHA:2850
HP:0012638	Abnormal nervous system physiology	4047	LSS	OMIM:618840
HP:0012638	Abnormal nervous system physiology	197	AHSG	ORPHA:2850
HP:0012638	Abnormal nervous system physiology	3694	ITGB6	ORPHA:2850
HP:0012638	Abnormal nervous system physiology	22947	DUX4L1	ORPHA:269
HP:0012638	Abnormal nervous system physiology	1789	DNMT3B	ORPHA:269
HP:0012638	Abnormal nervous system physiology	23347	SMCHD1	ORPHA:269
HP:0012638	Abnormal nervous system physiology	100288687	DUX4	ORPHA:269
HP:0012638	Abnormal nervous system physiology	2072	ERCC4	ORPHA:90321
HP:0012638	Abnormal nervous system physiology	2072	ERCC4	ORPHA:910
HP:0012638	Abnormal nervous system physiology	3190	HNRNPK	ORPHA:453504
HP:0012638	Abnormal nervous system physiology	3190	HNRNPK	ORPHA:352665
HP:0012638	Abnormal nervous system physiology	57165	GJC2	OMIM:608804
HP:0012638	Abnormal nervous system physiology	57165	GJC2	ORPHA:320401
HP:0012638	Abnormal nervous system physiology	57165	GJC2	OMIM:613206
HP:0012638	Abnormal nervous system physiology	3074	HEXB	ORPHA:309162
HP:0012638	Abnormal nervous system physiology	3074	HEXB	ORPHA:309155
HP:0012638	Abnormal nervous system physiology	4522	MTHFD1	OMIM:617780
HP:0012638	Abnormal nervous system physiology	6855	SYP	OMIM:300802
HP:0012638	Abnormal nervous system physiology	790	CAD	OMIM:616457
HP:0012638	Abnormal nervous system physiology	55689	YEATS2	OMIM:615127
HP:0012638	Abnormal nervous system physiology	2670	GFAP	OMIM:203450
HP:0012638	Abnormal nervous system physiology	2670	GFAP	ORPHA:363717
HP:0012638	Abnormal nervous system physiology	80155	NAA15	OMIM:617787
HP:0012638	Abnormal nervous system physiology	10730	YME1L1	OMIM:617302
HP:0012638	Abnormal nervous system physiology	54681	P4HTM	ORPHA:436141
HP:0012638	Abnormal nervous system physiology	54681	P4HTM	OMIM:618493
HP:0012638	Abnormal nervous system physiology	129563	DIS3L2	ORPHA:2849
HP:0012638	Abnormal nervous system physiology	128486	FITM2	OMIM:618635
HP:0012638	Abnormal nervous system physiology	28960	DCPS	OMIM:616459
HP:0012638	Abnormal nervous system physiology	3908	LAMA2	ORPHA:258
HP:0012638	Abnormal nervous system physiology	3908	LAMA2	OMIM:618138
HP:0012638	Abnormal nervous system physiology	3908	LAMA2	OMIM:607855
HP:0012638	Abnormal nervous system physiology	57231	SNX14	ORPHA:397709
HP:0012638	Abnormal nervous system physiology	57231	SNX14	OMIM:616354
HP:0012638	Abnormal nervous system physiology	23474	ETHE1	ORPHA:51188
HP:0012638	Abnormal nervous system physiology	23474	ETHE1	OMIM:602473
HP:0012638	Abnormal nervous system physiology	51684	SUFU	ORPHA:280200
HP:0012638	Abnormal nervous system physiology	51684	SUFU	ORPHA:2495
HP:0012638	Abnormal nervous system physiology	51684	SUFU	ORPHA:475
HP:0012638	Abnormal nervous system physiology	10559	SLC35A1	OMIM:603585
HP:0012638	Abnormal nervous system physiology	535	ATP6V0A1	OMIM:619971
HP:0012638	Abnormal nervous system physiology	535	ATP6V0A1	OMIM:619970
HP:0012638	Abnormal nervous system physiology	55870	ASH1L	OMIM:617796
HP:0012638	Abnormal nervous system physiology	91869	RFT1	ORPHA:244310
HP:0012638	Abnormal nervous system physiology	91869	RFT1	OMIM:612015
HP:0012638	Abnormal nervous system physiology	816	CAMK2B	OMIM:617799
HP:0012638	Abnormal nervous system physiology	5155	PDGFB	ORPHA:1980
HP:0012638	Abnormal nervous system physiology	5155	PDGFB	OMIM:213600
HP:0012638	Abnormal nervous system physiology	5155	PDGFB	ORPHA:2495
HP:0012638	Abnormal nervous system physiology	9213	XPR1	ORPHA:1980
HP:0012638	Abnormal nervous system physiology	9213	XPR1	OMIM:616413
HP:0012638	Abnormal nervous system physiology	5159	PDGFRB	ORPHA:1980
HP:0012638	Abnormal nervous system physiology	5159	PDGFRB	OMIM:213600
HP:0012638	Abnormal nervous system physiology	57462	MYORG	ORPHA:1980
HP:0012638	Abnormal nervous system physiology	6575	SLC20A2	ORPHA:1980
HP:0012638	Abnormal nervous system physiology	6575	SLC20A2	OMIM:213600
HP:0012638	Abnormal nervous system physiology	58494	JAM2	ORPHA:1980
HP:0012638	Abnormal nervous system physiology	58494	JAM2	OMIM:618824
HP:0012638	Abnormal nervous system physiology	2626	GATA4	ORPHA:251071
HP:0012638	Abnormal nervous system physiology	7469	NELFA	ORPHA:280
HP:0012638	Abnormal nervous system physiology	22884	WDR37	OMIM:618652
HP:0012638	Abnormal nervous system physiology	57178	ZMIZ1	OMIM:618659
HP:0012638	Abnormal nervous system physiology	80208	SPG11	ORPHA:2822
HP:0012638	Abnormal nervous system physiology	388962	BOLA3	OMIM:614299
HP:0012638	Abnormal nervous system physiology	2783	GNB2	OMIM:619503
HP:0012638	Abnormal nervous system physiology	26057	ANKRD17	OMIM:619504
HP:0012638	Abnormal nervous system physiology	3737	KCNA2	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	3737	KCNA2	OMIM:616366
HP:0012638	Abnormal nervous system physiology	1759	DNM1	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	1759	DNM1	OMIM:620352
HP:0012638	Abnormal nervous system physiology	8120	AP3B2	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	8120	AP3B2	OMIM:617276
HP:0012638	Abnormal nervous system physiology	10991	SLC38A3	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	51343	FZR1	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	3747	KCNC2	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	1917	EEF1A2	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	1917	EEF1A2	OMIM:616409
HP:0012638	Abnormal nervous system physiology	23219	FBXO28	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	23219	FBXO28	OMIM:619777
HP:0012638	Abnormal nervous system physiology	2558	GABRA5	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	2558	GABRA5	OMIM:618559
HP:0012638	Abnormal nervous system physiology	2906	GRIN2D	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	2906	GRIN2D	OMIM:617162
HP:0012638	Abnormal nervous system physiology	51741	WWOX	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	51741	WWOX	OMIM:616211
HP:0012638	Abnormal nervous system physiology	23334	SZT2	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	348980	HCN1	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	348980	HCN1	OMIM:618482
HP:0012638	Abnormal nervous system physiology	25977	NECAP1	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	23241	PACS2	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	23241	PACS2	OMIM:618067
HP:0012638	Abnormal nervous system physiology	16	AARS1	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	9568	GABBR2	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	9568	GABBR2	ORPHA:3095
HP:0012638	Abnormal nervous system physiology	9568	GABBR2	OMIM:617903
HP:0012638	Abnormal nervous system physiology	2555	GABRA2	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	2555	GABRA2	OMIM:618557
HP:0012638	Abnormal nervous system physiology	55152	DALRD3	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	26999	CYFIP2	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	26999	CYFIP2	OMIM:618008
HP:0012638	Abnormal nervous system physiology	25973	PARS2	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	25973	PARS2	OMIM:618437
HP:0012638	Abnormal nervous system physiology	23097	CDK19	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	23097	CDK19	OMIM:618916
HP:0012638	Abnormal nervous system physiology	2257	FGF12	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	5530	PPP3CA	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	5530	PPP3CA	OMIM:617711
HP:0012638	Abnormal nervous system physiology	478	ATP1A3	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	478	ATP1A3	OMIM:601338
HP:0012638	Abnormal nervous system physiology	478	ATP1A3	ORPHA:1171
HP:0012638	Abnormal nervous system physiology	478	ATP1A3	ORPHA:71517
HP:0012638	Abnormal nervous system physiology	478	ATP1A3	ORPHA:2131
HP:0012638	Abnormal nervous system physiology	478	ATP1A3	OMIM:614820
HP:0012638	Abnormal nervous system physiology	22906	TRAK1	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	2566	GABRG2	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	7532	YWHAG	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	7532	YWHAG	OMIM:617665
HP:0012638	Abnormal nervous system physiology	79876	UBA5	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	79876	UBA5	OMIM:617132
HP:0012638	Abnormal nervous system physiology	6328	SCN3A	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	6328	SCN3A	OMIM:617938
HP:0012638	Abnormal nervous system physiology	781	CACNA2D1	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	10659	CELF2	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	10659	CELF2	OMIM:619561
HP:0012638	Abnormal nervous system physiology	774	CACNA1B	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	774	CACNA1B	OMIM:618497
HP:0012638	Abnormal nervous system physiology	51412	ACTL6B	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	51412	ACTL6B	OMIM:618468
HP:0012638	Abnormal nervous system physiology	6506	SLC1A2	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	477	ATP1A2	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	477	ATP1A2	ORPHA:2131
HP:0012638	Abnormal nervous system physiology	3745	KCNB1	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	284111	SLC13A5	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	284111	SLC13A5	ORPHA:1946
HP:0012638	Abnormal nervous system physiology	22866	CNKSR2	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	22866	CNKSR2	OMIM:301008
HP:0012638	Abnormal nervous system physiology	773	CACNA1A	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	773	CACNA1A	OMIM:141500
HP:0012638	Abnormal nervous system physiology	773	CACNA1A	ORPHA:2131
HP:0012638	Abnormal nervous system physiology	6323	SCN1A	ORPHA:442835
HP:0012638	Abnormal nervous system physiology	6323	SCN1A	OMIM:609634
HP:0012638	Abnormal nervous system physiology	8241	RBM10	OMIM:311900
HP:0012638	Abnormal nervous system physiology	8241	RBM10	ORPHA:2886
HP:0012638	Abnormal nervous system physiology	57167	SALL4	ORPHA:233
HP:0012638	Abnormal nervous system physiology	9935	MAFB	ORPHA:233
HP:0012638	Abnormal nervous system physiology	1123	CHN1	ORPHA:233
HP:0012638	Abnormal nervous system physiology	3981	LIG4	ORPHA:235
HP:0012638	Abnormal nervous system physiology	54888	NSUN2	ORPHA:235
HP:0012638	Abnormal nervous system physiology	54888	NSUN2	OMIM:611091
HP:0012638	Abnormal nervous system physiology	51594	NBAS	OMIM:616483
HP:0012638	Abnormal nervous system physiology	253738	EBF3	OMIM:617330
HP:0012638	Abnormal nervous system physiology	253738	EBF3	ORPHA:96148
HP:0012638	Abnormal nervous system physiology	29081	METTL5	OMIM:618665
HP:0012638	Abnormal nervous system physiology	84879	MFSD2A	OMIM:616486
HP:0012638	Abnormal nervous system physiology	7862	BRPF1	OMIM:617333
HP:0012638	Abnormal nervous system physiology	1660	DHX9	OMIM:620988
HP:0012638	Abnormal nervous system physiology	2550	GABBR1	OMIM:620502
HP:0012638	Abnormal nervous system physiology	131405	TRIM71	OMIM:618667
HP:0012638	Abnormal nervous system physiology	4191	MDH2	OMIM:617339
HP:0012638	Abnormal nervous system physiology	286	ANK1	ORPHA:251066
HP:0012638	Abnormal nervous system physiology	166785	MMAA	OMIM:251100
HP:0012638	Abnormal nervous system physiology	5551	PRF1	OMIM:603553
HP:0012638	Abnormal nervous system physiology	5551	PRF1	ORPHA:540
HP:0012638	Abnormal nervous system physiology	8676	STX11	OMIM:603552
HP:0012638	Abnormal nervous system physiology	8676	STX11	ORPHA:540
HP:0012638	Abnormal nervous system physiology	554	AVPR2	ORPHA:223
HP:0012638	Abnormal nervous system physiology	554	AVPR2	OMIM:304800
HP:0012638	Abnormal nervous system physiology	359	AQP2	ORPHA:223
HP:0012638	Abnormal nervous system physiology	359	AQP2	OMIM:125800
HP:0012638	Abnormal nervous system physiology	26137	ZBTB20	OMIM:259050
HP:0012638	Abnormal nervous system physiology	26137	ZBTB20	ORPHA:3042
HP:0012638	Abnormal nervous system physiology	7750	ZMYM2	OMIM:619522
HP:0012638	Abnormal nervous system physiology	2720	GLB1	OMIM:230650
HP:0012638	Abnormal nervous system physiology	2720	GLB1	OMIM:230500
HP:0012638	Abnormal nervous system physiology	2720	GLB1	ORPHA:79255
HP:0012638	Abnormal nervous system physiology	22	ABCB7	ORPHA:2802
HP:0012638	Abnormal nervous system physiology	22	ABCB7	OMIM:301310
HP:0012638	Abnormal nervous system physiology	57466	SCAF4	OMIM:620511
HP:0012638	Abnormal nervous system physiology	9562	MINPP1	OMIM:619527
HP:0012638	Abnormal nervous system physiology	9562	MINPP1	ORPHA:284339
HP:0012638	Abnormal nervous system physiology	51163	DBR1	OMIM:620510
HP:0012638	Abnormal nervous system physiology	23314	SATB2	ORPHA:576283
HP:0012638	Abnormal nervous system physiology	23314	SATB2	ORPHA:251028
HP:0012638	Abnormal nervous system physiology	23314	SATB2	OMIM:612313
HP:0012638	Abnormal nervous system physiology	6324	SCN1B	OMIM:617350
HP:0012638	Abnormal nervous system physiology	6324	SCN1B	ORPHA:1934
HP:0012638	Abnormal nervous system physiology	79989	IFT56	OMIM:619534
HP:0012638	Abnormal nervous system physiology	9922	IQSEC1	OMIM:618687
HP:0012638	Abnormal nervous system physiology	284098	PIGW	OMIM:616025
HP:0012638	Abnormal nervous system physiology	284098	PIGW	ORPHA:247262
HP:0012638	Abnormal nervous system physiology	2157	F8	ORPHA:169805
HP:0012638	Abnormal nervous system physiology	4851	NOTCH1	OMIM:616028
HP:0012638	Abnormal nervous system physiology	4851	NOTCH1	ORPHA:974
HP:0012638	Abnormal nervous system physiology	3785	KCNQ2	ORPHA:439218
HP:0012638	Abnormal nervous system physiology	3785	KCNQ2	OMIM:613720
HP:0012638	Abnormal nervous system physiology	3930	LBR	OMIM:169400
HP:0012638	Abnormal nervous system physiology	79641	ROGDI	ORPHA:1946
HP:0012638	Abnormal nervous system physiology	79641	ROGDI	OMIM:226750
HP:0012638	Abnormal nervous system physiology	6595	SMARCA2	OMIM:601358
HP:0012638	Abnormal nervous system physiology	6595	SMARCA2	ORPHA:3051
HP:0012638	Abnormal nervous system physiology	6595	SMARCA2	OMIM:619293
HP:0012638	Abnormal nervous system physiology	6812	STXBP1	ORPHA:599373
HP:0012638	Abnormal nervous system physiology	6812	STXBP1	ORPHA:495818
HP:0012638	Abnormal nervous system physiology	8621	CDK13	OMIM:617360
HP:0012638	Abnormal nervous system physiology	133686	NADK2	OMIM:616034
HP:0012638	Abnormal nervous system physiology	133686	NADK2	ORPHA:431361
HP:0012638	Abnormal nervous system physiology	164	AP1G1	OMIM:619548
HP:0012638	Abnormal nervous system physiology	164	AP1G1	OMIM:619467
HP:0012638	Abnormal nervous system physiology	8905	AP1S2	OMIM:304340
HP:0012638	Abnormal nervous system physiology	6792	CDKL5	ORPHA:1934
HP:0012638	Abnormal nervous system physiology	6792	CDKL5	ORPHA:3095
HP:0012638	Abnormal nervous system physiology	6792	CDKL5	OMIM:300672
HP:0012638	Abnormal nervous system physiology	3736	KCNA1	ORPHA:1934
HP:0012638	Abnormal nervous system physiology	3736	KCNA1	ORPHA:972
HP:0012638	Abnormal nervous system physiology	3736	KCNA1	ORPHA:98809
HP:0012638	Abnormal nervous system physiology	9091	PIGQ	ORPHA:1934
HP:0012638	Abnormal nervous system physiology	140679	SLC32A1	ORPHA:1934
HP:0012638	Abnormal nervous system physiology	140679	SLC32A1	OMIM:620755
HP:0012638	Abnormal nervous system physiology	2775	GNAO1	ORPHA:1934
HP:0012638	Abnormal nervous system physiology	81603	TRIM8	ORPHA:1934
HP:0012638	Abnormal nervous system physiology	81603	TRIM8	OMIM:619428
HP:0012638	Abnormal nervous system physiology	79751	SLC25A22	ORPHA:1934
HP:0012638	Abnormal nervous system physiology	79751	SLC25A22	OMIM:609304
HP:0012638	Abnormal nervous system physiology	150094	SIK1	ORPHA:1934
HP:0012638	Abnormal nervous system physiology	150094	SIK1	OMIM:616341
HP:0012638	Abnormal nervous system physiology	23312	DMXL2	ORPHA:1934
HP:0012638	Abnormal nervous system physiology	2917	GRM7	ORPHA:1934
HP:0012638	Abnormal nervous system physiology	2917	GRM7	OMIM:618922
HP:0012638	Abnormal nervous system physiology	6326	SCN2A	ORPHA:1934
HP:0012638	Abnormal nervous system physiology	6326	SCN2A	OMIM:618924
HP:0012638	Abnormal nervous system physiology	51227	PIGP	ORPHA:1934
HP:0012638	Abnormal nervous system physiology	51227	PIGP	OMIM:617599
HP:0012638	Abnormal nervous system physiology	4761	NEUROD2	ORPHA:1934
HP:0012638	Abnormal nervous system physiology	8803	SUCLA2	ORPHA:1933
HP:0012638	Abnormal nervous system physiology	8803	SUCLA2	OMIM:612073
HP:0012638	Abnormal nervous system physiology	10456	HAX1	OMIM:610738
HP:0012638	Abnormal nervous system physiology	7187	TRAF3	ORPHA:1930
HP:0012638	Abnormal nervous system physiology	81622	UNC93B1	ORPHA:1930
HP:0012638	Abnormal nervous system physiology	148022	TICAM1	ORPHA:1930
HP:0012638	Abnormal nervous system physiology	29110	TBK1	ORPHA:1930
HP:0012638	Abnormal nervous system physiology	29110	TBK1	OMIM:620880
HP:0012638	Abnormal nervous system physiology	29110	TBK1	OMIM:617900
HP:0012638	Abnormal nervous system physiology	3912	LAMB1	OMIM:615191
HP:0012638	Abnormal nervous system physiology	3912	LAMB1	ORPHA:352682
HP:0012638	Abnormal nervous system physiology	55217	TMLHE	OMIM:300872
HP:0012638	Abnormal nervous system physiology	4728	NDUFS8	OMIM:618222
HP:0012638	Abnormal nervous system physiology	10466	COG5	ORPHA:263487
HP:0012638	Abnormal nervous system physiology	51422	PRKAG2	OMIM:261740
HP:0012638	Abnormal nervous system physiology	374291	NDUFS7	OMIM:618224
HP:0012638	Abnormal nervous system physiology	4723	NDUFV1	OMIM:618225
HP:0012638	Abnormal nervous system physiology	30000	TNPO2	OMIM:619556
HP:0012638	Abnormal nervous system physiology	79705	LRRK1	OMIM:615198
HP:0012638	Abnormal nervous system physiology	4719	NDUFS1	OMIM:618226
HP:0012638	Abnormal nervous system physiology	83548	COG3	OMIM:620546
HP:0012638	Abnormal nervous system physiology	81570	CLPB	ORPHA:445038
HP:0012638	Abnormal nervous system physiology	81570	CLPB	OMIM:619813
HP:0012638	Abnormal nervous system physiology	81570	CLPB	OMIM:616271
HP:0012638	Abnormal nervous system physiology	6507	SLC1A3	ORPHA:209967
HP:0012638	Abnormal nervous system physiology	6507	SLC1A3	ORPHA:2131
HP:0012638	Abnormal nervous system physiology	6507	SLC1A3	OMIM:612656
HP:0012638	Abnormal nervous system physiology	2627	GATA6	OMIM:600001
HP:0012638	Abnormal nervous system physiology	2627	GATA6	ORPHA:2255
HP:0012638	Abnormal nervous system physiology	1908	EDN3	ORPHA:661
HP:0012638	Abnormal nervous system physiology	2668	GDNF	ORPHA:661
HP:0012638	Abnormal nervous system physiology	627	BDNF	ORPHA:661
HP:0012638	Abnormal nervous system physiology	10660	LBX1	ORPHA:661
HP:0012638	Abnormal nervous system physiology	283446	MYO1H	ORPHA:661
HP:0012638	Abnormal nervous system physiology	283446	MYO1H	OMIM:619482
HP:0012638	Abnormal nervous system physiology	5009	OTC	ORPHA:664
HP:0012638	Abnormal nervous system physiology	5009	OTC	OMIM:311250
HP:0012638	Abnormal nervous system physiology	55869	HDAC8	OMIM:300882
HP:0012638	Abnormal nervous system physiology	55869	HDAC8	ORPHA:3459
HP:0012638	Abnormal nervous system physiology	55869	HDAC8	ORPHA:199
HP:0012638	Abnormal nervous system physiology	2581	GALC	ORPHA:206443
HP:0012638	Abnormal nervous system physiology	2581	GALC	ORPHA:206436
HP:0012638	Abnormal nervous system physiology	2581	GALC	OMIM:245200
HP:0012638	Abnormal nervous system physiology	91942	NDUFAF2	OMIM:618233
HP:0012638	Abnormal nervous system physiology	650	BMP2	ORPHA:261295
HP:0012638	Abnormal nervous system physiology	25814	ATXN10	OMIM:603516
HP:0012638	Abnormal nervous system physiology	79868	ALG13	OMIM:300884
HP:0012638	Abnormal nervous system physiology	126328	NDUFA11	OMIM:618236
HP:0012638	Abnormal nervous system physiology	9342	SNAP29	ORPHA:66631
HP:0012638	Abnormal nervous system physiology	4726	NDUFS6	OMIM:618232
HP:0012638	Abnormal nervous system physiology	443	ASPA	ORPHA:314918
HP:0012638	Abnormal nervous system physiology	443	ASPA	ORPHA:314911
HP:0012638	Abnormal nervous system physiology	79133	NDUFAF5	OMIM:618238
HP:0012638	Abnormal nervous system physiology	2033	EP300	ORPHA:353284
HP:0012638	Abnormal nervous system physiology	2033	EP300	OMIM:180849
HP:0012638	Abnormal nervous system physiology	137682	NDUFAF6	OMIM:618239
HP:0012638	Abnormal nervous system physiology	162514	TRPV3	ORPHA:659
HP:0012638	Abnormal nervous system physiology	64065	PERP	ORPHA:659
HP:0012638	Abnormal nervous system physiology	1130	LYST	OMIM:214500
HP:0012638	Abnormal nervous system physiology	1130	LYST	ORPHA:167
HP:0012638	Abnormal nervous system physiology	26128	KIFBP	ORPHA:66629
HP:0012638	Abnormal nervous system physiology	7846	TUBA1A	OMIM:611603
HP:0012638	Abnormal nervous system physiology	2710	GK	OMIM:307030
HP:0012638	Abnormal nervous system physiology	9179	AP4M1	OMIM:612936
HP:0012638	Abnormal nervous system physiology	9179	AP4M1	ORPHA:280763
HP:0012638	Abnormal nervous system physiology	9126	SMC3	OMIM:610759
HP:0012638	Abnormal nervous system physiology	9126	SMC3	ORPHA:199
HP:0012638	Abnormal nervous system physiology	79944	L2HGDH	OMIM:236792
HP:0012638	Abnormal nervous system physiology	79944	L2HGDH	ORPHA:79314
HP:0012638	Abnormal nervous system physiology	79068	FTO	OMIM:612938
HP:0012638	Abnormal nervous system physiology	4976	OPA1	ORPHA:98673
HP:0012638	Abnormal nervous system physiology	1491	CTH	ORPHA:212
HP:0012638	Abnormal nervous system physiology	1741	DLG3	OMIM:300850
HP:0012638	Abnormal nervous system physiology	3192	HNRNPU	OMIM:617391
HP:0012638	Abnormal nervous system physiology	57551	TAOK1	OMIM:619575
HP:0012638	Abnormal nervous system physiology	112939	NACC1	OMIM:617393
HP:0012638	Abnormal nervous system physiology	112939	NACC1	ORPHA:500545
HP:0012638	Abnormal nervous system physiology	55572	FOXRED1	OMIM:618241
HP:0012638	Abnormal nervous system physiology	11274	USP18	OMIM:617397
HP:0012638	Abnormal nervous system physiology	7169	TPM2	OMIM:609285
HP:0012638	Abnormal nervous system physiology	29920	PYCR2	ORPHA:481152
HP:0012638	Abnormal nervous system physiology	29920	PYCR2	OMIM:616420
HP:0012638	Abnormal nervous system physiology	22845	DOLK	OMIM:610768
HP:0012638	Abnormal nervous system physiology	22845	DOLK	ORPHA:91131
HP:0012638	Abnormal nervous system physiology	4864	NPC1	OMIM:257220
HP:0012638	Abnormal nervous system physiology	8604	SLC25A12	OMIM:612949
HP:0012638	Abnormal nervous system physiology	6898	TAT	ORPHA:28378
HP:0012638	Abnormal nervous system physiology	10483	SEC23B	ORPHA:201
HP:0012638	Abnormal nervous system physiology	6391	SDHC	ORPHA:201
HP:0012638	Abnormal nervous system physiology	205717	USF3	ORPHA:201
HP:0012638	Abnormal nervous system physiology	100144748	KLLN	ORPHA:201
HP:0012638	Abnormal nervous system physiology	3643	INSR	ORPHA:263458
HP:0012638	Abnormal nervous system physiology	7319	UBE2A	OMIM:300860
HP:0012638	Abnormal nervous system physiology	7319	UBE2A	ORPHA:163956
HP:0012638	Abnormal nervous system physiology	3172	HNF4A	ORPHA:263455
HP:0012638	Abnormal nervous system physiology	10524	KAT5	OMIM:619103
HP:0012638	Abnormal nervous system physiology	51300	TIMMDC1	OMIM:618251
HP:0012638	Abnormal nervous system physiology	5277	PIGA	OMIM:300868
HP:0012638	Abnormal nervous system physiology	5277	PIGA	OMIM:301072
HP:0012638	Abnormal nervous system physiology	4714	NDUFB8	OMIM:618252
HP:0012638	Abnormal nervous system physiology	4700	NDUFA6	OMIM:618253
HP:0012638	Abnormal nervous system physiology	8635	RNASET2	OMIM:612951
HP:0012638	Abnormal nervous system physiology	9244	CRLF1	OMIM:272430
HP:0012638	Abnormal nervous system physiology	9244	CRLF1	ORPHA:1545
HP:0012638	Abnormal nervous system physiology	1021	CDK6	OMIM:616080
HP:0012638	Abnormal nervous system physiology	50814	NSDHL	OMIM:300831
HP:0012638	Abnormal nervous system physiology	50814	NSDHL	ORPHA:251383
HP:0012638	Abnormal nervous system physiology	3975	LHX1	ORPHA:261265
HP:0012638	Abnormal nervous system physiology	6928	HNF1B	ORPHA:261265
HP:0012638	Abnormal nervous system physiology	57003	CCDC47	OMIM:618268
HP:0012638	Abnormal nervous system physiology	51095	TRNT1	OMIM:616084
HP:0012638	Abnormal nervous system physiology	10847	SRCAP	OMIM:619595
HP:0012638	Abnormal nervous system physiology	10847	SRCAP	ORPHA:2044
HP:0012638	Abnormal nervous system physiology	51091	SEPSECS	OMIM:613811
HP:0012638	Abnormal nervous system physiology	51091	SEPSECS	ORPHA:2524
HP:0012638	Abnormal nervous system physiology	6660	SOX5	ORPHA:626
HP:0012638	Abnormal nervous system physiology	6660	SOX5	ORPHA:313892
HP:0012638	Abnormal nervous system physiology	238	ALK	ORPHA:626
HP:0012638	Abnormal nervous system physiology	9839	ZEB2	ORPHA:626
HP:0012638	Abnormal nervous system physiology	9839	ZEB2	OMIM:235730
HP:0012638	Abnormal nervous system physiology	9839	ZEB2	ORPHA:261552
HP:0012638	Abnormal nervous system physiology	9839	ZEB2	ORPHA:261537
HP:0012638	Abnormal nervous system physiology	4893	NRAS	ORPHA:626
HP:0012638	Abnormal nervous system physiology	4893	NRAS	OMIM:163200
HP:0012638	Abnormal nervous system physiology	4893	NRAS	ORPHA:2612
HP:0012638	Abnormal nervous system physiology	4893	NRAS	OMIM:249400
HP:0012638	Abnormal nervous system physiology	5894	RAF1	ORPHA:626
HP:0012638	Abnormal nervous system physiology	1528	CYB5A	ORPHA:621
HP:0012638	Abnormal nervous system physiology	1727	CYB5R3	ORPHA:621
HP:0012638	Abnormal nervous system physiology	54982	CLN6	OMIM:601780
HP:0012638	Abnormal nervous system physiology	2132	EXT2	ORPHA:52022
HP:0012638	Abnormal nervous system physiology	2132	EXT2	ORPHA:466926
HP:0012638	Abnormal nervous system physiology	2132	EXT2	OMIM:616682
HP:0012638	Abnormal nervous system physiology	60529	ALX4	ORPHA:52022
HP:0012638	Abnormal nervous system physiology	60529	ALX4	ORPHA:60015
HP:0012638	Abnormal nervous system physiology	8915	BCL10	OMIM:616098
HP:0012638	Abnormal nervous system physiology	7504	XK	OMIM:300842
HP:0012638	Abnormal nervous system physiology	90522	YIF1B	OMIM:619125
HP:0012638	Abnormal nervous system physiology	374354	NHLRC2	OMIM:618278
HP:0012638	Abnormal nervous system physiology	22983	MAST1	OMIM:618273
HP:0012638	Abnormal nervous system physiology	118924	FRA10AC1	OMIM:620113
HP:0012638	Abnormal nervous system physiology	8911	CACNA1I	OMIM:620114
HP:0012638	Abnormal nervous system physiology	4488	MSX2	OMIM:168500
HP:0012638	Abnormal nervous system physiology	4488	MSX2	ORPHA:60015
HP:0012638	Abnormal nervous system physiology	4488	MSX2	OMIM:604757
HP:0012638	Abnormal nervous system physiology	9895	TECPR2	ORPHA:320385
HP:0012638	Abnormal nervous system physiology	4781	NFIB	OMIM:618286
HP:0012638	Abnormal nervous system physiology	55835	CPAP	OMIM:608393
HP:0012638	Abnormal nervous system physiology	4668	NAGA	OMIM:609241
HP:0012638	Abnormal nervous system physiology	4668	NAGA	ORPHA:79281
HP:0012638	Abnormal nervous system physiology	4668	NAGA	ORPHA:79279
HP:0012638	Abnormal nervous system physiology	9487	PIGL	OMIM:280000
HP:0012638	Abnormal nervous system physiology	9487	PIGL	ORPHA:247262
HP:0012638	Abnormal nervous system physiology	9487	PIGL	ORPHA:3474
HP:0012638	Abnormal nervous system physiology	131118	DNAJC19	ORPHA:66634
HP:0012638	Abnormal nervous system physiology	131118	DNAJC19	OMIM:610198
HP:0012638	Abnormal nervous system physiology	3593	IL12B	ORPHA:3287
HP:0012638	Abnormal nervous system physiology	3106	HLA-B	ORPHA:3287
HP:0012638	Abnormal nervous system physiology	3106	HLA-B	ORPHA:117
HP:0012638	Abnormal nervous system physiology	6945	MLX	ORPHA:3287
HP:0012638	Abnormal nervous system physiology	5660	PSAP	ORPHA:206436
HP:0012638	Abnormal nervous system physiology	5660	PSAP	ORPHA:309271
HP:0012638	Abnormal nervous system physiology	5660	PSAP	ORPHA:309263
HP:0012638	Abnormal nervous system physiology	5660	PSAP	ORPHA:309256
HP:0012638	Abnormal nervous system physiology	5660	PSAP	OMIM:249900
HP:0012638	Abnormal nervous system physiology	5660	PSAP	OMIM:610539
HP:0012638	Abnormal nervous system physiology	79644	SRD5A3	ORPHA:324737
HP:0012638	Abnormal nervous system physiology	79644	SRD5A3	OMIM:612713
HP:0012638	Abnormal nervous system physiology	80704	SLC19A3	ORPHA:263410
HP:0012638	Abnormal nervous system physiology	80704	SLC19A3	OMIM:607483
HP:0012638	Abnormal nervous system physiology	27161	AGO2	OMIM:619149
HP:0012638	Abnormal nervous system physiology	8665	EIF3F	OMIM:618295
HP:0012638	Abnormal nervous system physiology	221692	PHACTR1	OMIM:618298
HP:0012638	Abnormal nervous system physiology	9131	AIFM1	OMIM:300816
HP:0012638	Abnormal nervous system physiology	9131	AIFM1	OMIM:300232
HP:0012638	Abnormal nervous system physiology	4771	NF2	ORPHA:637
HP:0012638	Abnormal nervous system physiology	4771	NF2	ORPHA:2495
HP:0012638	Abnormal nervous system physiology	4771	NF2	OMIM:101000
HP:0012638	Abnormal nervous system physiology	4771	NF2	ORPHA:93921
HP:0012638	Abnormal nervous system physiology	8517	IKBKG	OMIM:308300
HP:0012638	Abnormal nervous system physiology	8517	IKBKG	ORPHA:464
HP:0012638	Abnormal nervous system physiology	26275	HIBCH	OMIM:250620
HP:0012638	Abnormal nervous system physiology	26275	HIBCH	ORPHA:88639
HP:0012638	Abnormal nervous system physiology	50640	PNPLA8	OMIM:251950
HP:0012638	Abnormal nervous system physiology	11005	SPINK5	ORPHA:634
HP:0012638	Abnormal nervous system physiology	11198	SUPT16H	ORPHA:261229
HP:0012638	Abnormal nervous system physiology	57680	CHD8	ORPHA:261229
HP:0012638	Abnormal nervous system physiology	57680	CHD8	OMIM:615032
HP:0012638	Abnormal nervous system physiology	199857	ALG14	OMIM:619031
HP:0012638	Abnormal nervous system physiology	25970	SH2B1	ORPHA:261222
HP:0012638	Abnormal nervous system physiology	25970	SH2B1	ORPHA:261197
HP:0012638	Abnormal nervous system physiology	3763	KCNJ6	ORPHA:435628
HP:0012638	Abnormal nervous system physiology	3763	KCNJ6	OMIM:614098
HP:0012638	Abnormal nervous system physiology	375	ARF1	OMIM:618185
HP:0012638	Abnormal nervous system physiology	23019	CNOT1	OMIM:619033
HP:0012638	Abnormal nervous system physiology	23019	CNOT1	OMIM:618500
HP:0012638	Abnormal nervous system physiology	8506	CNTNAP1	OMIM:618186
HP:0012638	Abnormal nervous system physiology	83700	JAM3	OMIM:613730
HP:0012638	Abnormal nervous system physiology	95	ACY1	ORPHA:137754
HP:0012638	Abnormal nervous system physiology	95	ACY1	OMIM:609924
HP:0012638	Abnormal nervous system physiology	7109	TRAPPC10	OMIM:620027
HP:0012638	Abnormal nervous system physiology	10274	STAG1	ORPHA:502434
HP:0012638	Abnormal nervous system physiology	10274	STAG1	OMIM:617635
HP:0012638	Abnormal nervous system physiology	4774	NFIA	OMIM:613735
HP:0012638	Abnormal nervous system physiology	4774	NFIA	ORPHA:401986
HP:0012638	Abnormal nervous system physiology	118987	PDZD8	OMIM:620021
HP:0012638	Abnormal nervous system physiology	80222	TARS2	OMIM:615918
HP:0012638	Abnormal nervous system physiology	3073	HEXA	OMIM:272800
HP:0012638	Abnormal nervous system physiology	4983	OPHN1	OMIM:300486
HP:0012638	Abnormal nervous system physiology	54968	TMEM70	ORPHA:1194
HP:0012638	Abnormal nervous system physiology	54968	TMEM70	OMIM:614052
HP:0012638	Abnormal nervous system physiology	3141	HLCS	OMIM:253270
HP:0012638	Abnormal nervous system physiology	3141	HLCS	ORPHA:79242
HP:0012638	Abnormal nervous system physiology	55163	PNPO	ORPHA:79096
HP:0012638	Abnormal nervous system physiology	55163	PNPO	OMIM:610090
HP:0012638	Abnormal nervous system physiology	23431	AP4E1	OMIM:613744
HP:0012638	Abnormal nervous system physiology	23431	AP4E1	ORPHA:280763
HP:0012638	Abnormal nervous system physiology	846	CASR	OMIM:612899
HP:0012638	Abnormal nervous system physiology	846	CASR	OMIM:601198
HP:0012638	Abnormal nervous system physiology	10472	ZBTB18	ORPHA:36367
HP:0012638	Abnormal nervous system physiology	10472	ZBTB18	OMIM:612337
HP:0012638	Abnormal nervous system physiology	63908	NAPB	OMIM:620033
HP:0012638	Abnormal nervous system physiology	1137	CHRNA4	OMIM:600513
HP:0012638	Abnormal nervous system physiology	4509	MT-ATP8	ORPHA:254913
HP:0012638	Abnormal nervous system physiology	514	ATP5F1E	ORPHA:254913
HP:0012638	Abnormal nervous system physiology	513	ATP5F1D	ORPHA:254913
HP:0012638	Abnormal nervous system physiology	84833	ATP5MK	ORPHA:254913
HP:0012638	Abnormal nervous system physiology	91647	ATPAF2	ORPHA:254913
HP:0012638	Abnormal nervous system physiology	100131801	PET100	OMIM:619055
HP:0012638	Abnormal nervous system physiology	9739	SETD1A	OMIM:619056
HP:0012638	Abnormal nervous system physiology	340024	SLC6A19	OMIM:234500
HP:0012638	Abnormal nervous system physiology	340024	SLC6A19	ORPHA:2116
HP:0012638	Abnormal nervous system physiology	686	BTD	OMIM:253260
HP:0012638	Abnormal nervous system physiology	686	BTD	ORPHA:79241
HP:0012638	Abnormal nervous system physiology	84823	LMNB2	ORPHA:79087
HP:0012638	Abnormal nervous system physiology	23732	FRRS1L	ORPHA:725
HP:0012638	Abnormal nervous system physiology	10908	PNPLA6	ORPHA:3363
HP:0012638	Abnormal nervous system physiology	10015	PDCD6IP	OMIM:620047
HP:0012638	Abnormal nervous system physiology	3117	HLA-DQA1	OMIM:212750
HP:0012638	Abnormal nervous system physiology	3119	HLA-DQB1	OMIM:212750
HP:0012638	Abnormal nervous system physiology	8772	FADD	OMIM:613759
HP:0012638	Abnormal nervous system physiology	8772	FADD	ORPHA:306550
HP:0012638	Abnormal nervous system physiology	259232	NALCN	ORPHA:562528
HP:0012638	Abnormal nervous system physiology	259232	NALCN	OMIM:615419
HP:0012638	Abnormal nervous system physiology	259232	NALCN	OMIM:616266
HP:0012638	Abnormal nervous system physiology	259232	NALCN	ORPHA:371364
HP:0012638	Abnormal nervous system physiology	84334	COA8	OMIM:619061
HP:0012638	Abnormal nervous system physiology	84334	COA8	ORPHA:436271
HP:0012638	Abnormal nervous system physiology	26053	AUTS2	ORPHA:352490
HP:0012638	Abnormal nervous system physiology	23461	ABCA5	ORPHA:2026
HP:0012638	Abnormal nervous system physiology	79813	EHMT1	OMIM:610253
HP:0012638	Abnormal nervous system physiology	79813	EHMT1	ORPHA:261652
HP:0012638	Abnormal nervous system physiology	79813	EHMT1	ORPHA:96147
HP:0012638	Abnormal nervous system physiology	10352	WARS2	ORPHA:572798
HP:0012638	Abnormal nervous system physiology	10352	WARS2	OMIM:617710
HP:0012638	Abnormal nervous system physiology	10382	TUBB4A	OMIM:612438
HP:0012638	Abnormal nervous system physiology	6197	RPS6KA3	ORPHA:276630
HP:0012638	Abnormal nervous system physiology	6197	RPS6KA3	OMIM:303600
HP:0012638	Abnormal nervous system physiology	6197	RPS6KA3	ORPHA:192
HP:0012638	Abnormal nervous system physiology	6908	TBP	OMIM:607136
HP:0012638	Abnormal nervous system physiology	7915	ALDH5A1	OMIM:271980
HP:0012638	Abnormal nervous system physiology	5091	PC	OMIM:266150
HP:0012638	Abnormal nervous system physiology	149371	EXOC8	OMIM:619076
HP:0012638	Abnormal nervous system physiology	285175	UNC80	OMIM:616801
HP:0012638	Abnormal nervous system physiology	285175	UNC80	ORPHA:371364
HP:0012638	Abnormal nervous system physiology	8314	BAP1	ORPHA:2495
HP:0012638	Abnormal nervous system physiology	8314	BAP1	OMIM:619762
HP:0012638	Abnormal nervous system physiology	84231	TRAF7	ORPHA:2495
HP:0012638	Abnormal nervous system physiology	84231	TRAF7	OMIM:618164
HP:0012638	Abnormal nervous system physiology	6608	SMO	ORPHA:2495
HP:0012638	Abnormal nervous system physiology	7015	TERT	ORPHA:2495
HP:0012638	Abnormal nervous system physiology	1282	COL4A1	OMIM:175780
HP:0012638	Abnormal nervous system physiology	1282	COL4A1	ORPHA:899
HP:0012638	Abnormal nervous system physiology	4784	NFIX	ORPHA:420179
HP:0012638	Abnormal nervous system physiology	9719	ADAMTSL2	OMIM:231050
HP:0012638	Abnormal nervous system physiology	22859	ADGRL1	OMIM:620065
HP:0012638	Abnormal nervous system physiology	84992	PIGY	OMIM:616809
HP:0012638	Abnormal nervous system physiology	84992	PIGY	ORPHA:247262
HP:0012638	Abnormal nervous system physiology	10236	HNRNPR	OMIM:620073
HP:0012638	Abnormal nervous system physiology	58508	KMT2C	ORPHA:261652
HP:0012638	Abnormal nervous system physiology	58508	KMT2C	OMIM:617768
HP:0012638	Abnormal nervous system physiology	26227	PHGDH	OMIM:601815
HP:0012638	Abnormal nervous system physiology	1654	DDX3X	ORPHA:3338
HP:0012638	Abnormal nervous system physiology	1654	DDX3X	OMIM:300958
HP:0012638	Abnormal nervous system physiology	1654	DDX3X	ORPHA:457260
HP:0012638	Abnormal nervous system physiology	92002	CCNQ	ORPHA:140952
HP:0012638	Abnormal nervous system physiology	5591	PRKDC	OMIM:615966
HP:0012638	Abnormal nervous system physiology	25828	TXN2	OMIM:616811
HP:0012638	Abnormal nervous system physiology	114548	NLRP3	OMIM:607115
HP:0012638	Abnormal nervous system physiology	3187	HNRNPH1	OMIM:620083
HP:0012638	Abnormal nervous system physiology	63895	PIEZO2	OMIM:248700
HP:0012638	Abnormal nervous system physiology	11152	WDR45	OMIM:300894
HP:0012638	Abnormal nervous system physiology	11152	WDR45	ORPHA:329284
HP:0012638	Abnormal nervous system physiology	2937	GSS	OMIM:266130
HP:0012638	Abnormal nervous system physiology	7355	SLC35A2	OMIM:300896
HP:0012638	Abnormal nervous system physiology	7355	SLC35A2	ORPHA:356961
HP:0012638	Abnormal nervous system physiology	2778	GNAS	OMIM:612462
HP:0012638	Abnormal nervous system physiology	2778	GNAS	OMIM:103580
HP:0012638	Abnormal nervous system physiology	84317	CCDC115	OMIM:616828
HP:0012638	Abnormal nervous system physiology	92154	MTSS2	OMIM:620086
HP:0012638	Abnormal nervous system physiology	84978	FRMD5	OMIM:620094
HP:0012638	Abnormal nervous system physiology	6253	RTN2	ORPHA:100993
HP:0012638	Abnormal nervous system physiology	51271	UBAP1	ORPHA:100993
HP:0012638	Abnormal nervous system physiology	197322	ACSF3	ORPHA:289504
HP:0012638	Abnormal nervous system physiology	54413	NLGN3	OMIM:300425
HP:0012638	Abnormal nervous system physiology	10159	ATP6AP2	OMIM:300423
HP:0012638	Abnormal nervous system physiology	10159	ATP6AP2	ORPHA:363654
HP:0012638	Abnormal nervous system physiology	23503	ZFYVE26	ORPHA:100996
HP:0012638	Abnormal nervous system physiology	51004	COQ6	OMIM:614650
HP:0012638	Abnormal nervous system physiology	51004	COQ6	ORPHA:93921
HP:0012638	Abnormal nervous system physiology	2703	GJA8	OMIM:612474
HP:0012638	Abnormal nervous system physiology	2702	GJA5	OMIM:612474
HP:0012638	Abnormal nervous system physiology	57017	COQ9	OMIM:614654
HP:0012638	Abnormal nervous system physiology	55690	PACS1	ORPHA:329224
HP:0012638	Abnormal nervous system physiology	55690	PACS1	OMIM:615009
HP:0012638	Abnormal nervous system physiology	79738	BBS10	OMIM:615987
HP:0012638	Abnormal nervous system physiology	79738	BBS10	ORPHA:110
HP:0012638	Abnormal nervous system physiology	3720	JARID2	OMIM:620098
HP:0012638	Abnormal nervous system physiology	10878	CFHR3	OMIM:235400
HP:0012638	Abnormal nervous system physiology	3075	CFH	OMIM:235400
HP:0012638	Abnormal nervous system physiology	3078	CFHR1	OMIM:235400
HP:0012638	Abnormal nervous system physiology	6683	SPAST	ORPHA:100985
HP:0012638	Abnormal nervous system physiology	51621	KLF13	OMIM:612001
HP:0012638	Abnormal nervous system physiology	471	ATIC	ORPHA:250977
HP:0012638	Abnormal nervous system physiology	471	ATIC	OMIM:608688
HP:0012638	Abnormal nervous system physiology	51807	TUBA8	ORPHA:250972
HP:0012638	Abnormal nervous system physiology	85358	SHANK3	OMIM:606232
HP:0012638	Abnormal nervous system physiology	411	ARSB	OMIM:253200
HP:0012638	Abnormal nervous system physiology	549	AUH	ORPHA:67046
HP:0012638	Abnormal nervous system physiology	22880	MORC2	ORPHA:466768
HP:0012638	Abnormal nervous system physiology	55784	MCTP2	ORPHA:1596
HP:0012638	Abnormal nervous system physiology	56997	COQ8A	OMIM:612016
HP:0012638	Abnormal nervous system physiology	56997	COQ8A	ORPHA:139485
HP:0012638	Abnormal nervous system physiology	51010	EXOSC3	OMIM:614678
HP:0012638	Abnormal nervous system physiology	51010	EXOSC3	ORPHA:2254
HP:0012638	Abnormal nervous system physiology	1141	CHRNB2	OMIM:605375
HP:0012638	Abnormal nervous system physiology	51218	GLRX5	OMIM:616859
HP:0012638	Abnormal nervous system physiology	526	ATP6V1B2	ORPHA:79499
HP:0012638	Abnormal nervous system physiology	526	ATP6V1B2	ORPHA:3473
HP:0012638	Abnormal nervous system physiology	11253	MAN1B1	OMIM:614202
HP:0012638	Abnormal nervous system physiology	11253	MAN1B1	ORPHA:397941
HP:0012638	Abnormal nervous system physiology	7874	USP7	OMIM:616863
HP:0012638	Abnormal nervous system physiology	7874	USP7	ORPHA:500055
HP:0012638	Abnormal nervous system physiology	27315	PGAP2	OMIM:614207
HP:0012638	Abnormal nervous system physiology	27315	PGAP2	ORPHA:247262
HP:0012638	Abnormal nervous system physiology	4594	MMUT	OMIM:251000
HP:0012638	Abnormal nervous system physiology	4594	MMUT	ORPHA:79312
HP:0012638	Abnormal nervous system physiology	23400	ATP13A2	OMIM:606693
HP:0012638	Abnormal nervous system physiology	1641	DCX	OMIM:300067
HP:0012638	Abnormal nervous system physiology	1641	DCX	ORPHA:2148
HP:0012638	Abnormal nervous system physiology	1105	CHD1	ORPHA:529965
HP:0012638	Abnormal nervous system physiology	1105	CHD1	OMIM:617682
HP:0012638	Abnormal nervous system physiology	5718	PSMD12	ORPHA:529962
HP:0012638	Abnormal nervous system physiology	5718	PSMD12	OMIM:617516
HP:0012638	Abnormal nervous system physiology	2186	BPTF	ORPHA:529962
HP:0012638	Abnormal nervous system physiology	3758	KCNJ1	OMIM:241200
HP:0012638	Abnormal nervous system physiology	23065	EMC1	OMIM:616875
HP:0012638	Abnormal nervous system physiology	128989	TANGO2	OMIM:616878
HP:0012638	Abnormal nervous system physiology	128989	TANGO2	ORPHA:480864
HP:0012638	Abnormal nervous system physiology	80781	COL18A1	ORPHA:1571
HP:0012638	Abnormal nervous system physiology	80781	COL18A1	OMIM:267750
HP:0012638	Abnormal nervous system physiology	5062	PAK2	ORPHA:1571
HP:0012638	Abnormal nervous system physiology	5062	PAK2	OMIM:618458
HP:0012638	Abnormal nervous system physiology	5498	PPOX	ORPHA:79473
HP:0012638	Abnormal nervous system physiology	5498	PPOX	OMIM:620483
HP:0012638	Abnormal nervous system physiology	55644	OSGEP	OMIM:617729
HP:0012638	Abnormal nervous system physiology	55644	OSGEP	ORPHA:2065
HP:0012638	Abnormal nervous system physiology	57572	DOCK6	OMIM:614219
HP:0012638	Abnormal nervous system physiology	57572	DOCK6	ORPHA:974
HP:0012638	Abnormal nervous system physiology	4644	MYO5A	ORPHA:79476
HP:0012638	Abnormal nervous system physiology	4644	MYO5A	ORPHA:33445
HP:0012638	Abnormal nervous system physiology	4644	MYO5A	OMIM:214450
HP:0012638	Abnormal nervous system physiology	7074	TIAM1	OMIM:619908
HP:0012638	Abnormal nervous system physiology	59336	PRDM13	OMIM:619909
HP:0012638	Abnormal nervous system physiology	59336	PRDM13	OMIM:619761
HP:0012638	Abnormal nervous system physiology	3835	KIF22	ORPHA:93360
HP:0012638	Abnormal nervous system physiology	2464	FRA16E	OMIM:136570
HP:0012638	Abnormal nervous system physiology	79784	MYH14	ORPHA:397744
HP:0012638	Abnormal nervous system physiology	112858	TP53RK	OMIM:617730
HP:0012638	Abnormal nervous system physiology	112858	TP53RK	ORPHA:2065
HP:0012638	Abnormal nervous system physiology	81562	LMAN2L	OMIM:616887
HP:0012638	Abnormal nervous system physiology	163786	SASS6	OMIM:616402
HP:0012638	Abnormal nervous system physiology	490	ATP2B1	OMIM:619910
HP:0012638	Abnormal nervous system physiology	4929	NR4A2	OMIM:619911
HP:0012638	Abnormal nervous system physiology	4929	NR4A2	ORPHA:1617
HP:0012638	Abnormal nervous system physiology	6925	TCF4	ORPHA:2896
HP:0012638	Abnormal nervous system physiology	6925	TCF4	OMIM:610954
HP:0012638	Abnormal nervous system physiology	26047	CNTNAP2	ORPHA:163681
HP:0012638	Abnormal nervous system physiology	26047	CNTNAP2	OMIM:610042
HP:0012638	Abnormal nervous system physiology	23209	MLC1	OMIM:604004
HP:0012638	Abnormal nervous system physiology	2316	FLNA	OMIM:300049
HP:0012638	Abnormal nervous system physiology	2316	FLNA	OMIM:300048
HP:0012638	Abnormal nervous system physiology	51124	IER3IP1	OMIM:614231
HP:0012638	Abnormal nervous system physiology	2890	GRIA1	OMIM:619927
HP:0012638	Abnormal nervous system physiology	2890	GRIA1	OMIM:619931
HP:0012638	Abnormal nervous system physiology	54805	CNNM2	OMIM:616418
HP:0012638	Abnormal nervous system physiology	55164	SHQ1	OMIM:619922
HP:0012638	Abnormal nervous system physiology	2767	GNA11	ORPHA:1556
HP:0012638	Abnormal nervous system physiology	151188	ARL6IP6	ORPHA:1556
HP:0012638	Abnormal nervous system physiology	3756	KCNH1	ORPHA:420561
HP:0012638	Abnormal nervous system physiology	3756	KCNH1	OMIM:135500
HP:0012638	Abnormal nervous system physiology	3756	KCNH1	ORPHA:3473
HP:0012638	Abnormal nervous system physiology	3756	KCNH1	OMIM:611816
HP:0012638	Abnormal nervous system physiology	5495	PPM1B	ORPHA:163693
HP:0012638	Abnormal nervous system physiology	6519	SLC3A1	ORPHA:163693
HP:0012638	Abnormal nervous system physiology	9581	PREPL	ORPHA:163693
HP:0012638	Abnormal nervous system physiology	79823	CAMKMT	ORPHA:163693
HP:0012638	Abnormal nervous system physiology	29929	ALG6	OMIM:603147
HP:0012638	Abnormal nervous system physiology	29929	ALG6	ORPHA:79320
HP:0012638	Abnormal nervous system physiology	10717	AP4B1	ORPHA:280763
HP:0012638	Abnormal nervous system physiology	10717	AP4B1	OMIM:614066
HP:0012638	Abnormal nervous system physiology	11154	AP4S1	ORPHA:280763
HP:0012638	Abnormal nervous system physiology	4841	NONO	ORPHA:466791
HP:0012638	Abnormal nervous system physiology	4841	NONO	OMIM:300967
HP:0012638	Abnormal nervous system physiology	57502	NLGN4X	OMIM:300495
HP:0012638	Abnormal nervous system physiology	9320	TRIP12	OMIM:617752
HP:0012638	Abnormal nervous system physiology	5879	RAC1	OMIM:617751
HP:0012638	Abnormal nervous system physiology	5879	RAC1	ORPHA:500159
HP:0012638	Abnormal nervous system physiology	440	ASNS	OMIM:615574
HP:0012638	Abnormal nervous system physiology	5538	PPT1	OMIM:256730
HP:0012638	Abnormal nervous system physiology	5455	POU3F3	OMIM:618604
HP:0012638	Abnormal nervous system physiology	1203	CLN5	OMIM:256731
HP:0012638	Abnormal nervous system physiology	5430	POLR2A	OMIM:618603
HP:0012638	Abnormal nervous system physiology	3265	HRAS	ORPHA:2874
HP:0012638	Abnormal nervous system physiology	3265	HRAS	OMIM:163200
HP:0012638	Abnormal nervous system physiology	3265	HRAS	ORPHA:2612
HP:0012638	Abnormal nervous system physiology	23529	CLCF1	ORPHA:1545
HP:0012638	Abnormal nervous system physiology	22827	PUF60	OMIM:615583
HP:0012638	Abnormal nervous system physiology	22827	PUF60	ORPHA:508488
HP:0012638	Abnormal nervous system physiology	50484	RRM2B	OMIM:612075
HP:0012638	Abnormal nervous system physiology	50484	RRM2B	ORPHA:254892
HP:0012638	Abnormal nervous system physiology	547	KIF1A	OMIM:614255
HP:0012638	Abnormal nervous system physiology	10369	CACNG2	OMIM:614256
HP:0012638	Abnormal nervous system physiology	1497	CTNS	ORPHA:411634
HP:0012638	Abnormal nervous system physiology	26235	FBXL4	OMIM:615471
HP:0012638	Abnormal nervous system physiology	55823	VPS11	ORPHA:466934
HP:0012638	Abnormal nervous system physiology	5238	PGM3	ORPHA:443811
HP:0012638	Abnormal nervous system physiology	9254	CACNA2D2	OMIM:618501
HP:0012638	Abnormal nervous system physiology	5927	KDM5A	OMIM:620820
HP:0012638	Abnormal nervous system physiology	91801	ALKBH8	OMIM:618504
HP:0012638	Abnormal nervous system physiology	4072	EPCAM	ORPHA:144
HP:0012638	Abnormal nervous system physiology	4292	MLH1	ORPHA:144
HP:0012638	Abnormal nervous system physiology	5395	PMS2	ORPHA:144
HP:0012638	Abnormal nervous system physiology	7048	TGFBR2	ORPHA:144
HP:0012638	Abnormal nervous system physiology	2956	MSH6	ORPHA:144
HP:0012638	Abnormal nervous system physiology	5378	PMS1	ORPHA:144
HP:0012638	Abnormal nervous system physiology	4436	MSH2	ORPHA:144
HP:0012638	Abnormal nervous system physiology	4552	MTRR	OMIM:236270
HP:0012638	Abnormal nervous system physiology	4552	MTRR	ORPHA:2169
HP:0012638	Abnormal nervous system physiology	65993	MRPS34	OMIM:617664
HP:0012638	Abnormal nervous system physiology	80816	ASXL3	OMIM:615485
HP:0012638	Abnormal nervous system physiology	80816	ASXL3	ORPHA:352577
HP:0012638	Abnormal nervous system physiology	1855	DVL1	OMIM:616331
HP:0012638	Abnormal nervous system physiology	387787	LIPT2	OMIM:617668
HP:0012638	Abnormal nervous system physiology	1841	DTYMK	OMIM:619847
HP:0012638	Abnormal nervous system physiology	64072	CDH23	ORPHA:2965
HP:0012638	Abnormal nervous system physiology	64072	CDH23	ORPHA:91347
HP:0012638	Abnormal nervous system physiology	9049	AIP	ORPHA:2965
HP:0012638	Abnormal nervous system physiology	55904	KMT2E	OMIM:618512
HP:0012638	Abnormal nervous system physiology	10686	CLDN16	OMIM:248250
HP:0012638	Abnormal nervous system physiology	51112	TRAPPC12	OMIM:617669
HP:0012638	Abnormal nervous system physiology	51112	TRAPPC12	ORPHA:500144
HP:0012638	Abnormal nervous system physiology	57082	KNL1	OMIM:604321
HP:0012638	Abnormal nervous system physiology	100996717	NOTCH2NLC	OMIM:603472
HP:0012638	Abnormal nervous system physiology	100996717	NOTCH2NLC	ORPHA:2289
HP:0012638	Abnormal nervous system physiology	55650	PIGV	OMIM:239300
HP:0012638	Abnormal nervous system physiology	55650	PIGV	ORPHA:247262
HP:0012638	Abnormal nervous system physiology	284403	WDR62	OMIM:604317
HP:0012638	Abnormal nervous system physiology	410	ARSA	ORPHA:309271
HP:0012638	Abnormal nervous system physiology	410	ARSA	ORPHA:309263
HP:0012638	Abnormal nervous system physiology	410	ARSA	OMIM:250100
HP:0012638	Abnormal nervous system physiology	410	ARSA	ORPHA:309256
HP:0012638	Abnormal nervous system physiology	348	APOE	OMIM:607822
HP:0012638	Abnormal nervous system physiology	288	ANK3	OMIM:615493
HP:0012638	Abnormal nervous system physiology	288	ANK3	ORPHA:356996
HP:0012638	Abnormal nervous system physiology	23250	ATP11A	OMIM:619851
HP:0012638	Abnormal nervous system physiology	818	CAMK2G	OMIM:618522
HP:0012638	Abnormal nervous system physiology	5105	PCK1	OMIM:261680
HP:0012638	Abnormal nervous system physiology	1020	CDK5	OMIM:616342
HP:0012638	Abnormal nervous system physiology	7343	UBTF	OMIM:617672
HP:0012638	Abnormal nervous system physiology	7343	UBTF	ORPHA:500180
HP:0012638	Abnormal nervous system physiology	7994	KAT6A	ORPHA:457193
HP:0012638	Abnormal nervous system physiology	7994	KAT6A	OMIM:616268
HP:0012638	Abnormal nervous system physiology	2770	GNAI1	OMIM:619854
HP:0012638	Abnormal nervous system physiology	1716	DGUOK	OMIM:251880
HP:0012638	Abnormal nervous system physiology	4566	MT-TK	OMIM:545000
HP:0012638	Abnormal nervous system physiology	4566	MT-TK	ORPHA:255210
HP:0012638	Abnormal nervous system physiology	4565	MT-TI	OMIM:545000
HP:0012638	Abnormal nervous system physiology	4567	MT-TL1	OMIM:545000
HP:0012638	Abnormal nervous system physiology	4567	MT-TL1	ORPHA:550
HP:0012638	Abnormal nervous system physiology	4567	MT-TL1	ORPHA:255210
HP:0012638	Abnormal nervous system physiology	4567	MT-TL1	ORPHA:324525
HP:0012638	Abnormal nervous system physiology	4571	MT-TP	OMIM:545000
HP:0012638	Abnormal nervous system physiology	4558	MT-TF	OMIM:545000
HP:0012638	Abnormal nervous system physiology	4558	MT-TF	ORPHA:550
HP:0012638	Abnormal nervous system physiology	1193	CLIC2	ORPHA:324410
HP:0012638	Abnormal nervous system physiology	5528	PPP2R5D	OMIM:616355
HP:0012638	Abnormal nervous system physiology	5528	PPP2R5D	ORPHA:457279
HP:0012638	Abnormal nervous system physiology	23327	NEDD4L	OMIM:617201
HP:0012638	Abnormal nervous system physiology	80776	B9D2	OMIM:614175
HP:0012638	Abnormal nervous system physiology	80776	B9D2	ORPHA:475
HP:0012638	Abnormal nervous system physiology	8216	LZTR1	ORPHA:93921
HP:0012638	Abnormal nervous system physiology	8216	LZTR1	OMIM:605275
HP:0012638	Abnormal nervous system physiology	1201	CLN3	OMIM:204200
HP:0012638	Abnormal nervous system physiology	11193	WBP4	OMIM:620852
HP:0012638	Abnormal nervous system physiology	23007	PLCH1	ORPHA:93925
HP:0012638	Abnormal nervous system physiology	10716	TBR1	ORPHA:1617
HP:0012638	Abnormal nervous system physiology	26834	RNU4-2	OMIM:620851
HP:0012638	Abnormal nervous system physiology	788	SLC25A20	ORPHA:159
HP:0012638	Abnormal nervous system physiology	788	SLC25A20	OMIM:212138
HP:0012638	Abnormal nervous system physiology	4854	NOTCH3	OMIM:125310
HP:0012638	Abnormal nervous system physiology	4854	NOTCH3	ORPHA:136
HP:0012638	Abnormal nervous system physiology	92482	BBIP1	ORPHA:110
HP:0012638	Abnormal nervous system physiology	11020	IFT27	ORPHA:110
HP:0012638	Abnormal nervous system physiology	582	BBS1	ORPHA:110
HP:0012638	Abnormal nervous system physiology	49855	SCAPER	ORPHA:110
HP:0012638	Abnormal nervous system physiology	51057	WDPCP	ORPHA:110
HP:0012638	Abnormal nervous system physiology	132320	SCLT1	ORPHA:110
HP:0012638	Abnormal nervous system physiology	27241	BBS9	ORPHA:110
HP:0012638	Abnormal nervous system physiology	84984	CEP19	ORPHA:110
HP:0012638	Abnormal nervous system physiology	22954	TRIM32	ORPHA:110
HP:0012638	Abnormal nervous system physiology	123016	TTC8	ORPHA:110
HP:0012638	Abnormal nervous system physiology	26160	IFT172	ORPHA:110
HP:0012638	Abnormal nervous system physiology	583	BBS2	ORPHA:110
HP:0012638	Abnormal nervous system physiology	585	BBS4	ORPHA:110
HP:0012638	Abnormal nervous system physiology	8195	MKKS	ORPHA:110
HP:0012638	Abnormal nervous system physiology	54585	LZTFL1	ORPHA:110
HP:0012638	Abnormal nervous system physiology	55212	BBS7	ORPHA:110
HP:0012638	Abnormal nervous system physiology	166379	BBS12	ORPHA:110
HP:0012638	Abnormal nervous system physiology	10806	SDCCAG8	ORPHA:110
HP:0012638	Abnormal nervous system physiology	157657	CFAP418	ORPHA:110
HP:0012638	Abnormal nervous system physiology	84100	ARL6	ORPHA:110
HP:0012638	Abnormal nervous system physiology	129880	BBS5	ORPHA:110
HP:0012638	Abnormal nervous system physiology	80173	IFT74	ORPHA:110
HP:0012638	Abnormal nervous system physiology	80173	IFT74	ORPHA:475
HP:0012638	Abnormal nervous system physiology	5518	PPP2R1A	OMIM:616362
HP:0012638	Abnormal nervous system physiology	5518	PPP2R1A	ORPHA:457284
HP:0012638	Abnormal nervous system physiology	26038	CHD5	OMIM:619873
HP:0012638	Abnormal nervous system physiology	3590	IL11RA	OMIM:614188
HP:0012638	Abnormal nervous system physiology	23126	POGZ	OMIM:616364
HP:0012638	Abnormal nervous system physiology	23126	POGZ	ORPHA:468678
HP:0012638	Abnormal nervous system physiology	55773	TBC1D23	OMIM:617695
HP:0012638	Abnormal nervous system physiology	8558	CDK10	OMIM:617694
HP:0012638	Abnormal nervous system physiology	92609	TIMM50	OMIM:617698
HP:0012638	Abnormal nervous system physiology	92609	TIMM50	ORPHA:505216
HP:0012638	Abnormal nervous system physiology	51692	CPSF3	OMIM:619876
HP:0012638	Abnormal nervous system physiology	5590	PRKCZ	ORPHA:1606
HP:0012638	Abnormal nervous system physiology	2563	GABRD	ORPHA:1606
HP:0012638	Abnormal nervous system physiology	23013	SPEN	ORPHA:1606
HP:0012638	Abnormal nervous system physiology	23013	SPEN	OMIM:619312
HP:0012638	Abnormal nervous system physiology	8510	MMP23B	ORPHA:1606
HP:0012638	Abnormal nervous system physiology	7798	LUZP1	ORPHA:1606
HP:0012638	Abnormal nervous system physiology	6497	SKI	ORPHA:1606
HP:0012638	Abnormal nervous system physiology	10630	PDPN	ORPHA:1606
HP:0012638	Abnormal nervous system physiology	3339	HSPG2	ORPHA:1606
HP:0012638	Abnormal nervous system physiology	10277	UBE4B	ORPHA:1606
HP:0012638	Abnormal nervous system physiology	8514	KCNAB2	ORPHA:1606
HP:0012638	Abnormal nervous system physiology	63976	PRDM16	ORPHA:1606
HP:0012638	Abnormal nervous system physiology	54897	CASZ1	ORPHA:1606
HP:0012638	Abnormal nervous system physiology	845	CASQ2	OMIM:604772
HP:0012638	Abnormal nervous system physiology	845	CASQ2	OMIM:611938
HP:0012638	Abnormal nervous system physiology	6262	RYR2	OMIM:604772
HP:0012638	Abnormal nervous system physiology	148789	B3GALNT2	ORPHA:588
HP:0012638	Abnormal nervous system physiology	148789	B3GALNT2	ORPHA:899
HP:0012638	Abnormal nervous system physiology	9215	LARGE1	ORPHA:588
HP:0012638	Abnormal nervous system physiology	9215	LARGE1	OMIM:236670
HP:0012638	Abnormal nervous system physiology	9215	LARGE1	ORPHA:899
HP:0012638	Abnormal nervous system physiology	729920	CRPPA	ORPHA:588
HP:0012638	Abnormal nervous system physiology	729920	CRPPA	ORPHA:899
HP:0012638	Abnormal nervous system physiology	1859	DYRK1A	ORPHA:464311
HP:0012638	Abnormal nervous system physiology	1859	DYRK1A	ORPHA:268261
HP:0012638	Abnormal nervous system physiology	1859	DYRK1A	OMIM:614104
HP:0012638	Abnormal nervous system physiology	1822	ATN1	ORPHA:101
HP:0012638	Abnormal nervous system physiology	1822	ATN1	OMIM:125370
HP:0012638	Abnormal nervous system physiology	1822	ATN1	OMIM:618494
HP:0012638	Abnormal nervous system physiology	285362	SUMF1	ORPHA:585
HP:0012638	Abnormal nervous system physiology	472	ATM	ORPHA:100
HP:0012638	Abnormal nervous system physiology	472	ATM	ORPHA:440437
HP:0012638	Abnormal nervous system physiology	472	ATM	OMIM:208900
HP:0012638	Abnormal nervous system physiology	55210	ATAD3A	ORPHA:496790
HP:0012638	Abnormal nervous system physiology	55210	ATAD3A	OMIM:618810
HP:0012638	Abnormal nervous system physiology	8818	DPM2	OMIM:615042
HP:0012638	Abnormal nervous system physiology	9276	COPB2	OMIM:619884
HP:0012638	Abnormal nervous system physiology	56098	PCDHGC4	OMIM:619880
HP:0012638	Abnormal nervous system physiology	27068	PPA2	OMIM:617222
HP:0012638	Abnormal nervous system physiology	4285	MIPEP	OMIM:617228
HP:0012638	Abnormal nervous system physiology	3773	KCNJ16	OMIM:619406
HP:0012638	Abnormal nervous system physiology	38	ACAT1	ORPHA:134
HP:0012638	Abnormal nervous system physiology	5354	PLP1	OMIM:312080
HP:0012638	Abnormal nervous system physiology	326	AIRE	OMIM:240300
HP:0012638	Abnormal nervous system physiology	1758	DMP1	ORPHA:289176
HP:0012638	Abnormal nervous system physiology	5167	ENPP1	ORPHA:289176
HP:0012638	Abnormal nervous system physiology	5167	ENPP1	ORPHA:51608
HP:0012638	Abnormal nervous system physiology	64919	BCL11B	OMIM:617237
HP:0012638	Abnormal nervous system physiology	29960	MRM2	OMIM:618567
HP:0012638	Abnormal nervous system physiology	374969	SVBP	OMIM:618569
HP:0012638	Abnormal nervous system physiology	84295	PHF6	ORPHA:127
HP:0012638	Abnormal nervous system physiology	84295	PHF6	OMIM:301900
HP:0012638	Abnormal nervous system physiology	286204	CRB2	OMIM:219730
HP:0012638	Abnormal nervous system physiology	1967	EIF2B1	OMIM:603896
HP:0012638	Abnormal nervous system physiology	10533	ATG7	OMIM:619422
HP:0012638	Abnormal nervous system physiology	205327	C2orf69	OMIM:619423
HP:0012638	Abnormal nervous system physiology	5881	RAC3	OMIM:618577
HP:0012638	Abnormal nervous system physiology	26173	INTS1	OMIM:618571
HP:0012638	Abnormal nervous system physiology	55656	INTS8	OMIM:618572
HP:0012638	Abnormal nervous system physiology	171546	SPTSSA	OMIM:620416
HP:0012638	Abnormal nervous system physiology	171546	SPTSSA	OMIM:620417
HP:0012638	Abnormal nervous system physiology	27429	HTRA2	OMIM:617248
HP:0012638	Abnormal nervous system physiology	4212	MEIS2	ORPHA:261190
HP:0012638	Abnormal nervous system physiology	3242	HPD	OMIM:276710
HP:0012638	Abnormal nervous system physiology	389827	MYMK	OMIM:254940
HP:0012638	Abnormal nervous system physiology	4126	MANBA	ORPHA:118
HP:0012638	Abnormal nervous system physiology	4126	MANBA	OMIM:248510
HP:0012638	Abnormal nervous system physiology	149233	IL23R	ORPHA:117
HP:0012638	Abnormal nervous system physiology	6775	STAT4	ORPHA:117
HP:0012638	Abnormal nervous system physiology	6775	STAT4	ORPHA:536
HP:0012638	Abnormal nervous system physiology	6775	STAT4	ORPHA:93552
HP:0012638	Abnormal nervous system physiology	3586	IL10	ORPHA:117
HP:0012638	Abnormal nervous system physiology	3586	IL10	ORPHA:536
HP:0012638	Abnormal nervous system physiology	1230	CCR1	ORPHA:117
HP:0012638	Abnormal nervous system physiology	3592	IL12A	ORPHA:117
HP:0012638	Abnormal nervous system physiology	101928376	IL12A-AS1	ORPHA:117
HP:0012638	Abnormal nervous system physiology	7099	TLR4	ORPHA:117
HP:0012638	Abnormal nervous system physiology	3459	IFNGR1	ORPHA:117
HP:0012638	Abnormal nervous system physiology	720	C4A	ORPHA:117
HP:0012638	Abnormal nervous system physiology	720	C4A	ORPHA:536
HP:0012638	Abnormal nervous system physiology	337867	UBAC2	ORPHA:117
HP:0012638	Abnormal nervous system physiology	51752	ERAP1	ORPHA:117
HP:0012638	Abnormal nervous system physiology	8302	KLRC4	ORPHA:117
HP:0012638	Abnormal nervous system physiology	291	SLC25A4	ORPHA:254892
HP:0012638	Abnormal nervous system physiology	291	SLC25A4	OMIM:617184
HP:0012638	Abnormal nervous system physiology	11232	POLG2	ORPHA:254892
HP:0012638	Abnormal nervous system physiology	11232	POLG2	OMIM:610131
HP:0012638	Abnormal nervous system physiology	9361	LONP1	OMIM:600373
HP:0012638	Abnormal nervous system physiology	9361	LONP1	ORPHA:79243
HP:0012638	Abnormal nervous system physiology	9488	PIGB	OMIM:618580
HP:0012638	Abnormal nervous system physiology	4572	MT-TQ	ORPHA:550
HP:0012638	Abnormal nervous system physiology	4512	MT-CO1	ORPHA:550
HP:0012638	Abnormal nervous system physiology	4513	MT-CO2	ORPHA:550
HP:0012638	Abnormal nervous system physiology	4514	MT-CO3	ORPHA:550
HP:0012638	Abnormal nervous system physiology	4578	MT-TW	ORPHA:550
HP:0012638	Abnormal nervous system physiology	4578	MT-TW	ORPHA:255210
HP:0012638	Abnormal nervous system physiology	4540	MT-ND5	ORPHA:550
HP:0012638	Abnormal nervous system physiology	4540	MT-ND5	ORPHA:255210
HP:0012638	Abnormal nervous system physiology	4541	MT-ND6	ORPHA:550
HP:0012638	Abnormal nervous system physiology	4541	MT-ND6	ORPHA:255210
HP:0012638	Abnormal nervous system physiology	4535	MT-ND1	ORPHA:550
HP:0012638	Abnormal nervous system physiology	4535	MT-ND1	ORPHA:255210
HP:0012638	Abnormal nervous system physiology	4538	MT-ND4	ORPHA:550
HP:0012638	Abnormal nervous system physiology	4538	MT-ND4	ORPHA:255210
HP:0012638	Abnormal nervous system physiology	4574	MT-TS1	ORPHA:550
HP:0012638	Abnormal nervous system physiology	4574	MT-TS1	OMIM:220110
HP:0012638	Abnormal nervous system physiology	4575	MT-TS2	ORPHA:550
HP:0012638	Abnormal nervous system physiology	4564	MT-TH	ORPHA:550
HP:0012638	Abnormal nervous system physiology	84894	LINGO1	OMIM:618103
HP:0012638	Abnormal nervous system physiology	160418	TMTC3	OMIM:617255
HP:0012638	Abnormal nervous system physiology	123606	NIPA1	ORPHA:261183
HP:0012638	Abnormal nervous system physiology	123606	NIPA1	OMIM:600363
HP:0012638	Abnormal nervous system physiology	7283	TUBG1	ORPHA:261183
HP:0012638	Abnormal nervous system physiology	7283	TUBG1	OMIM:615412
HP:0012638	Abnormal nervous system physiology	81614	NIPA2	ORPHA:261183
HP:0012638	Abnormal nervous system physiology	54973	INTS11	OMIM:620428
HP:0012638	Abnormal nervous system physiology	92335	STRADA	ORPHA:500533
HP:0012638	Abnormal nervous system physiology	92335	STRADA	OMIM:611087
HP:0012638	Abnormal nervous system physiology	6418	SET	OMIM:618106
HP:0012638	Abnormal nervous system physiology	2653	GCSH	OMIM:620423
HP:0012638	Abnormal nervous system physiology	9526	MPDU1	OMIM:609180
HP:0012638	Abnormal nervous system physiology	9526	MPDU1	ORPHA:79323
HP:0012638	Abnormal nervous system physiology	60675	PROK2	OMIM:610628
HP:0012638	Abnormal nervous system physiology	60675	PROK2	ORPHA:478
HP:0012638	Abnormal nervous system physiology	201294	UNC13D	ORPHA:540
HP:0012638	Abnormal nervous system physiology	6813	STXBP2	ORPHA:540
HP:0012638	Abnormal nervous system physiology	1120	CHKB	OMIM:602541
HP:0012638	Abnormal nervous system physiology	128869	PIGU	OMIM:618590
HP:0012638	Abnormal nervous system physiology	745	MYRF	OMIM:618113
HP:0012638	Abnormal nervous system physiology	5649	RELN	ORPHA:89844
HP:0012638	Abnormal nervous system physiology	10300	KATNB1	ORPHA:89844
HP:0012638	Abnormal nervous system physiology	10300	KATNB1	OMIM:616212
HP:0012638	Abnormal nervous system physiology	54820	NDE1	ORPHA:89844
HP:0012638	Abnormal nervous system physiology	54820	NDE1	ORPHA:2177
HP:0012638	Abnormal nervous system physiology	54820	NDE1	OMIM:614019
HP:0012638	Abnormal nervous system physiology	57520	HECW2	OMIM:617268
HP:0012638	Abnormal nervous system physiology	5053	PAH	OMIM:261600
HP:0012638	Abnormal nervous system physiology	5053	PAH	ORPHA:79254
HP:0012638	Abnormal nervous system physiology	5053	PAH	ORPHA:2209
HP:0012638	Abnormal nervous system physiology	4952	OCRL	ORPHA:534
HP:0012638	Abnormal nervous system physiology	4952	OCRL	OMIM:309000
HP:0012638	Abnormal nervous system physiology	2215	FCGR3B	ORPHA:536
HP:0012638	Abnormal nervous system physiology	3684	ITGAM	ORPHA:536
HP:0012638	Abnormal nervous system physiology	221895	JAZF1	ORPHA:536
HP:0012638	Abnormal nervous system physiology	7292	TNFSF4	ORPHA:536
HP:0012638	Abnormal nervous system physiology	640	BLK	ORPHA:536
HP:0012638	Abnormal nervous system physiology	55024	BANK1	ORPHA:536
HP:0012638	Abnormal nervous system physiology	3500	IGHG1	ORPHA:536
HP:0012638	Abnormal nervous system physiology	3654	IRAK1	ORPHA:536
HP:0012638	Abnormal nervous system physiology	3654	IRAK1	ORPHA:93552
HP:0012638	Abnormal nervous system physiology	1380	CR2	ORPHA:536
HP:0012638	Abnormal nervous system physiology	5133	PDCD1	ORPHA:536
HP:0012638	Abnormal nervous system physiology	2113	ETS1	ORPHA:536
HP:0012638	Abnormal nervous system physiology	10318	TNIP1	ORPHA:536
HP:0012638	Abnormal nervous system physiology	7332	UBE2L3	ORPHA:536
HP:0012638	Abnormal nervous system physiology	79932	KIAA0319L	ORPHA:536
HP:0012638	Abnormal nervous system physiology	3663	IRF5	ORPHA:536
HP:0012638	Abnormal nervous system physiology	3123	HLA-DRB1	ORPHA:536
HP:0012638	Abnormal nervous system physiology	721	C4B	ORPHA:536
HP:0012638	Abnormal nervous system physiology	51284	TLR7	ORPHA:536
HP:0012638	Abnormal nervous system physiology	6696	SPP1	ORPHA:536
HP:0012638	Abnormal nervous system physiology	6696	SPP1	ORPHA:93552
HP:0012638	Abnormal nervous system physiology	54899	PXK	ORPHA:536
HP:0012638	Abnormal nervous system physiology	7128	TNFAIP3	ORPHA:536
HP:0012638	Abnormal nervous system physiology	537	ATP6AP1	OMIM:300972
HP:0012638	Abnormal nervous system physiology	1621	DBH	OMIM:223360
HP:0012638	Abnormal nervous system physiology	51704	GPRC5B	OMIM:620447
HP:0012638	Abnormal nervous system physiology	361	AQP4	OMIM:620448
HP:0012638	Abnormal nervous system physiology	3376	IARS1	ORPHA:541423
HP:0012638	Abnormal nervous system physiology	3376	IARS1	OMIM:617093
HP:0012638	Abnormal nervous system physiology	9675	TTI1	OMIM:620445
HP:0012638	Abnormal nervous system physiology	1312	COMT	ORPHA:567
HP:0012638	Abnormal nervous system physiology	221037	JMJD1C	ORPHA:567
HP:0012638	Abnormal nervous system physiology	6239	RREB1	ORPHA:567
HP:0012638	Abnormal nervous system physiology	6899	TBX1	ORPHA:567
HP:0012638	Abnormal nervous system physiology	6899	TBX1	ORPHA:1727
HP:0012638	Abnormal nervous system physiology	6899	TBX1	OMIM:188400
HP:0012638	Abnormal nervous system physiology	7290	HIRA	ORPHA:567
HP:0012638	Abnormal nervous system physiology	9632	SEC24C	ORPHA:567
HP:0012638	Abnormal nervous system physiology	7353	UFD1	ORPHA:567
HP:0012638	Abnormal nervous system physiology	421	ARVCF	ORPHA:567
HP:0012638	Abnormal nervous system physiology	8260	NAA10	ORPHA:568
HP:0012638	Abnormal nervous system physiology	8260	NAA10	OMIM:309800
HP:0012638	Abnormal nervous system physiology	54880	BCOR	ORPHA:568
HP:0012638	Abnormal nervous system physiology	54880	BCOR	OMIM:300166
HP:0012638	Abnormal nervous system physiology	54880	BCOR	OMIM:309800
HP:0012638	Abnormal nervous system physiology	538	ATP7A	ORPHA:565
HP:0012638	Abnormal nervous system physiology	538	ATP7A	OMIM:304150
HP:0012638	Abnormal nervous system physiology	538	ATP7A	OMIM:309400
HP:0012638	Abnormal nervous system physiology	80311	KLHL15	OMIM:300982
HP:0012638	Abnormal nervous system physiology	6045	RNF2	OMIM:619460
HP:0012638	Abnormal nervous system physiology	6557	SLC12A1	OMIM:601678
HP:0012638	Abnormal nervous system physiology	5631	PRPS1	OMIM:301835
HP:0012638	Abnormal nervous system physiology	7161	TP73	OMIM:619466
HP:0012638	Abnormal nervous system physiology	2009	EML1	OMIM:600348
HP:0012638	Abnormal nervous system physiology	9758	FRMPD4	OMIM:300983
HP:0012638	Abnormal nervous system physiology	3188	HNRNPH2	OMIM:300986
HP:0012638	Abnormal nervous system physiology	1974	EIF4A2	OMIM:620455
HP:0012638	Abnormal nervous system physiology	4548	MTR	OMIM:250940
HP:0012638	Abnormal nervous system physiology	6874	TAF4	OMIM:620450
HP:0012638	Abnormal nervous system physiology	84065	TMEM222	OMIM:619470
HP:0012638	Abnormal nervous system physiology	57187	THOC2	OMIM:300957
HP:0012638	Abnormal nervous system physiology	57187	THOC2	ORPHA:457240
HP:0012638	Abnormal nervous system physiology	2892	GRIA3	ORPHA:364028
HP:0012638	Abnormal nervous system physiology	2892	GRIA3	OMIM:300699
HP:0012638	Abnormal nervous system physiology	4576	MT-TT	ORPHA:254857
HP:0012638	Abnormal nervous system physiology	348180	CTU2	OMIM:618142
HP:0012638	Abnormal nervous system physiology	54539	NDUFB11	OMIM:300952
HP:0012638	Abnormal nervous system physiology	54539	NDUFB11	ORPHA:2556
HP:0012638	Abnormal nervous system physiology	54539	NDUFB11	OMIM:309801
HP:0012638	Abnormal nervous system physiology	94005	PIGS	OMIM:618143
HP:0012638	Abnormal nervous system physiology	6711	SPTBN1	OMIM:619475
HP:0012638	Abnormal nervous system physiology	378884	NHLRC1	ORPHA:501
HP:0012638	Abnormal nervous system physiology	7957	EPM2A	ORPHA:501
HP:0012638	Abnormal nervous system physiology	10682	EBP	OMIM:300960
HP:0012638	Abnormal nervous system physiology	10682	EBP	ORPHA:401973
HP:0012638	Abnormal nervous system physiology	2222	FDFT1	OMIM:618156
HP:0012638	Abnormal nervous system physiology	6872	TAF1	OMIM:300966
HP:0012638	Abnormal nervous system physiology	6872	TAF1	ORPHA:480907
HP:0012638	Abnormal nervous system physiology	8567	MADD	OMIM:619004
HP:0012638	Abnormal nervous system physiology	8567	MADD	OMIM:619005
HP:0012638	Abnormal nervous system physiology	2760	GM2A	ORPHA:309246
HP:0012638	Abnormal nervous system physiology	2760	GM2A	OMIM:272750
HP:0012638	Abnormal nervous system physiology	5058	PAK1	OMIM:618158
HP:0012638	Abnormal nervous system physiology	8239	USP9X	OMIM:300968
HP:0012638	Abnormal nervous system physiology	8239	USP9X	ORPHA:480880
HP:0012638	Abnormal nervous system physiology	79152	FA2H	ORPHA:171629
HP:0012638	Abnormal nervous system physiology	79152	FA2H	OMIM:612319
HP:0012638	Abnormal nervous system physiology	9373	PLAA	ORPHA:521426
HP:0012638	Abnormal nervous system physiology	9373	PLAA	OMIM:617527
HP:0012638	Abnormal nervous system physiology	2998	GYS2	ORPHA:2089
HP:0012638	Abnormal nervous system physiology	2998	GYS2	OMIM:240600
HP:0012638	Abnormal nervous system physiology	57038	RARS2	OMIM:611523
HP:0012638	Abnormal nervous system physiology	3145	HMBS	OMIM:176000
HP:0012638	Abnormal nervous system physiology	3145	HMBS	ORPHA:79276
HP:0012638	Abnormal nervous system physiology	10681	GNB5	ORPHA:542306
HP:0012638	Abnormal nervous system physiology	10681	GNB5	OMIM:617173
HP:0012638	Abnormal nervous system physiology	10681	GNB5	OMIM:617182
HP:0012638	Abnormal nervous system physiology	60	ACTB	OMIM:620475
HP:0012638	Abnormal nervous system physiology	60	ACTB	OMIM:243310
HP:0012638	Abnormal nervous system physiology	60	ACTB	ORPHA:2995
HP:0012638	Abnormal nervous system physiology	3516	RBPJ	ORPHA:974
HP:0012638	Abnormal nervous system physiology	57514	ARHGAP31	ORPHA:974
HP:0012638	Abnormal nervous system physiology	57514	ARHGAP31	OMIM:100300
HP:0012638	Abnormal nervous system physiology	285203	EOGT	ORPHA:974
HP:0012638	Abnormal nervous system physiology	54567	DLL4	ORPHA:974
HP:0012638	Abnormal nervous system physiology	1200	TPP1	ORPHA:284324
HP:0012638	Abnormal nervous system physiology	1200	TPP1	OMIM:204500
HP:0012638	Abnormal nervous system physiology	3090	HIC1	ORPHA:531
HP:0012638	Abnormal nervous system physiology	5048	PAFAH1B1	ORPHA:531
HP:0012638	Abnormal nervous system physiology	5048	PAFAH1B1	ORPHA:95232
HP:0012638	Abnormal nervous system physiology	5048	PAFAH1B1	OMIM:607432
HP:0012638	Abnormal nervous system physiology	7531	YWHAE	ORPHA:531
HP:0012638	Abnormal nervous system physiology	23387	SIK3	OMIM:618162
HP:0012638	Abnormal nervous system physiology	63899	NSUN3	OMIM:619012
HP:0012638	Abnormal nervous system physiology	727676	SNORD118	ORPHA:542310
HP:0012638	Abnormal nervous system physiology	727676	SNORD118	OMIM:614561
HP:0012638	Abnormal nervous system physiology	11043	MID2	OMIM:300928
HP:0012638	Abnormal nervous system physiology	84081	NSRP1	OMIM:620001
HP:0012638	Abnormal nervous system physiology	54936	ADPRS	OMIM:618170
HP:0012638	Abnormal nervous system physiology	114034	TOE1	ORPHA:284339
HP:0012638	Abnormal nervous system physiology	114034	TOE1	OMIM:614969
HP:0012638	Abnormal nervous system physiology	3839	KPNA3	ORPHA:171612
HP:0012638	Abnormal nervous system physiology	84842	HPDL	OMIM:619026
HP:0012638	Abnormal nervous system physiology	5860	QDPR	OMIM:261630
HP:0012638	Abnormal nervous system physiology	1496	CTNNA2	OMIM:618174
HP:0012638	Abnormal nervous system physiology	83550	GPR101	OMIM:300942
HP:0012638	Abnormal nervous system physiology	6559	SLC12A3	OMIM:263800
HP:0012638	Abnormal nervous system physiology	79693	YRDC	ORPHA:2065
HP:0012638	Abnormal nervous system physiology	51002	TPRKB	ORPHA:2065
HP:0012638	Abnormal nervous system physiology	57122	NUP107	ORPHA:2065
HP:0012638	Abnormal nervous system physiology	84520	GON7	ORPHA:2065
HP:0012638	Abnormal nervous system physiology	8270	LAGE3	ORPHA:2065
HP:0012638	Abnormal nervous system physiology	8270	LAGE3	OMIM:301006
HP:0012638	Abnormal nervous system physiology	55294	FBXW7	OMIM:620012
HP:0012638	Abnormal nervous system physiology	9898	UBAP2L	OMIM:620494
HP:0012638	Abnormal nervous system physiology	6095	RORA	OMIM:618060
HP:0012638	Abnormal nervous system physiology	1183	CLCN4	OMIM:300114
HP:0012638	Abnormal nervous system physiology	1183	CLCN4	ORPHA:485350
HP:0012638	Abnormal nervous system physiology	5393	EXOSC9	OMIM:618065
HP:0012638	Abnormal nervous system physiology	5393	EXOSC9	ORPHA:2254
HP:0012638	Abnormal nervous system physiology	10312	TCIRG1	OMIM:259700
HP:0012638	Abnormal nervous system physiology	123263	MTFMT	OMIM:614947
HP:0012638	Abnormal nervous system physiology	80232	WDR26	ORPHA:513456
HP:0012638	Abnormal nervous system physiology	80232	WDR26	OMIM:617616
HP:0012638	Abnormal nervous system physiology	1278	COL1A2	ORPHA:230851
HP:0012638	Abnormal nervous system physiology	9693	RAPGEF2	OMIM:618075
HP:0012638	Abnormal nervous system physiology	51506	UFC1	OMIM:618076
HP:0012638	Abnormal nervous system physiology	63916	ELMO2	ORPHA:3019
HP:0012638	Abnormal nervous system physiology	4010	LMX1B	ORPHA:495818
HP:0012638	Abnormal nervous system physiology	4010	LMX1B	ORPHA:2614
HP:0012638	Abnormal nervous system physiology	80055	PGAP1	OMIM:615802
HP:0012638	Abnormal nervous system physiology	6662	SOX9	OMIM:114290
HP:0012638	Abnormal nervous system physiology	10978	CLP1	OMIM:615803
HP:0012638	Abnormal nervous system physiology	10978	CLP1	ORPHA:411493
HP:0012638	Abnormal nervous system physiology	10225	CD96	OMIM:211750
HP:0012638	Abnormal nervous system physiology	10225	CD96	ORPHA:1308
HP:0012638	Abnormal nervous system physiology	275	AMT	OMIM:620398
HP:0012638	Abnormal nervous system physiology	271	AMPD2	OMIM:615809
HP:0012638	Abnormal nervous system physiology	93210	PGAP3	ORPHA:247262
HP:0012638	Abnormal nervous system physiology	93210	PGAP3	OMIM:615716
HP:0012638	Abnormal nervous system physiology	8913	CACNA1G	OMIM:618087
HP:0012638	Abnormal nervous system physiology	64207	IRF2BPL	OMIM:618088
HP:0012638	Abnormal nervous system physiology	80204	FBXO11	OMIM:618089
HP:0012638	Abnormal nervous system physiology	5624	PROC	OMIM:612304
HP:0012638	Abnormal nervous system physiology	1509	CTSD	OMIM:610127
HP:0012638	Abnormal nervous system physiology	501	ALDH7A1	ORPHA:3006
HP:0012638	Abnormal nervous system physiology	11212	PLPBP	ORPHA:3006
HP:0012638	Abnormal nervous system physiology	57531	HACE1	ORPHA:464282
HP:0012638	Abnormal nervous system physiology	57531	HACE1	OMIM:616756
HP:0012638	Abnormal nervous system physiology	7852	CXCR4	ORPHA:51636
HP:0012638	Abnormal nervous system physiology	1009	CDH11	ORPHA:1299
HP:0012638	Abnormal nervous system physiology	84300	UQCC2	OMIM:615824
HP:0012638	Abnormal nervous system physiology	113235	SLC46A1	OMIM:229050
HP:0012638	Abnormal nervous system physiology	113235	SLC46A1	ORPHA:90045
HP:0012638	Abnormal nervous system physiology	4036	LRP2	ORPHA:2143
HP:0012638	Abnormal nervous system physiology	4036	LRP2	OMIM:222448
HP:0012638	Abnormal nervous system physiology	3782	KCNN3	ORPHA:3473
HP:0012638	Abnormal nervous system physiology	54496	PRMT7	ORPHA:464288
HP:0012638	Abnormal nervous system physiology	593	BCKDHA	OMIM:248600
HP:0012638	Abnormal nervous system physiology	5063	PAK3	OMIM:300558
HP:0012638	Abnormal nervous system physiology	9508	ADAMTS3	ORPHA:2136
HP:0012638	Abnormal nervous system physiology	79633	FAT4	ORPHA:2136
HP:0012638	Abnormal nervous system physiology	4519	MT-CYB	ORPHA:137675
HP:0012638	Abnormal nervous system physiology	79753	SNIP1	OMIM:614501
HP:0012638	Abnormal nervous system physiology	3418	IDH2	OMIM:613657
HP:0012638	Abnormal nervous system physiology	10056	FARSB	OMIM:613658
HP:0012638	Abnormal nervous system physiology	3748	KCNC3	ORPHA:98768
HP:0012638	Abnormal nervous system physiology	493856	CISD2	ORPHA:3463
HP:0012638	Abnormal nervous system physiology	7466	WFS1	ORPHA:3463
HP:0012638	Abnormal nervous system physiology	7466	WFS1	OMIM:222300
HP:0012638	Abnormal nervous system physiology	10436	EMG1	ORPHA:1270
HP:0012638	Abnormal nervous system physiology	81887	LAS1L	ORPHA:3459
HP:0012638	Abnormal nervous system physiology	440138	ALG11	OMIM:613661
HP:0012638	Abnormal nervous system physiology	440138	ALG11	ORPHA:280071
HP:0012638	Abnormal nervous system physiology	5627	PROS1	OMIM:614514
HP:0012638	Abnormal nervous system physiology	2050	EPHB4	ORPHA:137667
HP:0012638	Abnormal nervous system physiology	5921	RASA1	ORPHA:137667
HP:0012638	Abnormal nervous system physiology	3708	ITPR1	OMIM:117360
HP:0012638	Abnormal nervous system physiology	3708	ITPR1	OMIM:206700
HP:0012638	Abnormal nervous system physiology	9440	MED17	OMIM:613668
HP:0012638	Abnormal nervous system physiology	3662	IRF4	ORPHA:3452
HP:0012638	Abnormal nervous system physiology	4846	NOS3	OMIM:189800
HP:0012638	Abnormal nervous system physiology	8813	DPM1	OMIM:608799
HP:0012638	Abnormal nervous system physiology	8813	DPM1	ORPHA:79322
HP:0012638	Abnormal nervous system physiology	57393	CLTRN	ORPHA:2116
HP:0012638	Abnormal nervous system physiology	440193	CCDC88C	OMIM:236600
HP:0012638	Abnormal nervous system physiology	2146	EZH2	OMIM:277590
HP:0012638	Abnormal nervous system physiology	445	ASS1	OMIM:215700
HP:0012638	Abnormal nervous system physiology	64116	SLC39A8	ORPHA:468699
HP:0012638	Abnormal nervous system physiology	64116	SLC39A8	OMIM:616721
HP:0012638	Abnormal nervous system physiology	5832	ALDH18A1	ORPHA:447753
HP:0012638	Abnormal nervous system physiology	5832	ALDH18A1	OMIM:219150
HP:0012638	Abnormal nervous system physiology	28962	OSTM1	OMIM:259720
HP:0012638	Abnormal nervous system physiology	28962	OSTM1	ORPHA:85179
HP:0012638	Abnormal nervous system physiology	55023	PHIP	ORPHA:589905
HP:0012638	Abnormal nervous system physiology	80331	DNAJC5	OMIM:162350
HP:0012638	Abnormal nervous system physiology	54704	PDP1	OMIM:608782
HP:0012638	Abnormal nervous system physiology	8600	TNFSF11	OMIM:259710
HP:0012638	Abnormal nervous system physiology	91949	COG7	OMIM:608779
HP:0012638	Abnormal nervous system physiology	91949	COG7	ORPHA:79333
HP:0012638	Abnormal nervous system physiology	79796	ALG9	OMIM:608776
HP:0012638	Abnormal nervous system physiology	79796	ALG9	ORPHA:79328
HP:0012638	Abnormal nervous system physiology	59	ACTA2	ORPHA:2573
HP:0012638	Abnormal nervous system physiology	57674	RNF213	ORPHA:2573
HP:0012638	Abnormal nervous system physiology	1776	DNASE1L3	ORPHA:36412
HP:0012638	Abnormal nervous system physiology	26115	TANC2	OMIM:618906
HP:0012638	Abnormal nervous system physiology	55593	OTUD5	OMIM:301056
HP:0012638	Abnormal nervous system physiology	889	KRIT1	ORPHA:221061
HP:0012638	Abnormal nervous system physiology	889	KRIT1	OMIM:116860
HP:0012638	Abnormal nervous system physiology	5160	PDHA1	OMIM:312170
HP:0012638	Abnormal nervous system physiology	5160	PDHA1	ORPHA:79243
HP:0012638	Abnormal nervous system physiology	998	CDC42	OMIM:616737
HP:0012638	Abnormal nervous system physiology	998	CDC42	ORPHA:487796
HP:0012638	Abnormal nervous system physiology	10982	MAPRE2	OMIM:616734
HP:0012638	Abnormal nervous system physiology	79731	NARS2	ORPHA:79134
HP:0012638	Abnormal nervous system physiology	79731	NARS2	OMIM:616239
HP:0012638	Abnormal nervous system physiology	4694	NDUFA1	OMIM:301020
HP:0012638	Abnormal nervous system physiology	27235	COQ2	OMIM:607426
HP:0012638	Abnormal nervous system physiology	63035	BCORL1	OMIM:301029
HP:0012638	Abnormal nervous system physiology	1778	DYNC1H1	OMIM:614563
HP:0012638	Abnormal nervous system physiology	3796	KIF2A	OMIM:615411
HP:0012638	Abnormal nervous system physiology	10616	RBCK1	OMIM:615895
HP:0012638	Abnormal nervous system physiology	80746	TSEN2	OMIM:612389
HP:0012638	Abnormal nervous system physiology	80746	TSEN2	ORPHA:2524
HP:0012638	Abnormal nervous system physiology	100506658	OCLN	ORPHA:1229
HP:0012638	Abnormal nervous system physiology	100506658	OCLN	OMIM:251290
HP:0012638	Abnormal nervous system physiology	1349	COX7B	ORPHA:2556
HP:0012638	Abnormal nervous system physiology	1349	COX7B	OMIM:309801
HP:0012638	Abnormal nervous system physiology	3052	HCCS	ORPHA:2556
HP:0012638	Abnormal nervous system physiology	3052	HCCS	OMIM:309801
HP:0012638	Abnormal nervous system physiology	51185	CRBN	OMIM:607417
HP:0012638	Abnormal nervous system physiology	5422	POLA1	OMIM:301030
HP:0012638	Abnormal nervous system physiology	10943	MSL3	OMIM:301032
HP:0012638	Abnormal nervous system physiology	57511	COG6	OMIM:614576
HP:0012638	Abnormal nervous system physiology	83696	TRAPPC9	ORPHA:352530
HP:0012638	Abnormal nervous system physiology	83696	TRAPPC9	OMIM:613192
HP:0012638	Abnormal nervous system physiology	56479	KCNQ5	OMIM:617601
HP:0012638	Abnormal nervous system physiology	9343	EFTUD2	ORPHA:79113
HP:0012638	Abnormal nervous system physiology	9343	EFTUD2	OMIM:610536
HP:0012638	Abnormal nervous system physiology	23476	BRD4	ORPHA:199
HP:0012638	Abnormal nervous system physiology	6878	TAF6	ORPHA:199
HP:0012638	Abnormal nervous system physiology	157680	VPS13B	ORPHA:193
HP:0012638	Abnormal nervous system physiology	157680	VPS13B	OMIM:216550
HP:0012638	Abnormal nervous system physiology	71	ACTG1	OMIM:614583
HP:0012638	Abnormal nervous system physiology	71	ACTG1	ORPHA:2995
HP:0012638	Abnormal nervous system physiology	368	ABCC6	ORPHA:51608
HP:0012638	Abnormal nervous system physiology	81689	ISCA1	OMIM:617613
HP:0012638	Abnormal nervous system physiology	64857	PLEKHG2	OMIM:616763
HP:0012638	Abnormal nervous system physiology	51520	LARS1	OMIM:615438
HP:0012638	Abnormal nervous system physiology	25914	RTTN	ORPHA:468631
HP:0012638	Abnormal nervous system physiology	25914	RTTN	OMIM:614833
HP:0012638	Abnormal nervous system physiology	23545	ATP6V0A2	OMIM:219200
HP:0012638	Abnormal nervous system physiology	23545	ATP6V0A2	ORPHA:357074
HP:0012638	Abnormal nervous system physiology	63932	STEEP1	OMIM:301013
HP:0012638	Abnormal nervous system physiology	26503	SLC17A5	OMIM:604369
HP:0012638	Abnormal nervous system physiology	26503	SLC17A5	OMIM:269920
HP:0012638	Abnormal nervous system physiology	55617	TASP1	OMIM:618950
HP:0012638	Abnormal nervous system physiology	6182	MRPL12	OMIM:618951
HP:0012638	Abnormal nervous system physiology	79042	TSEN34	ORPHA:2524
HP:0012638	Abnormal nervous system physiology	80210	ARMC9	OMIM:617622
HP:0012638	Abnormal nervous system physiology	80210	ARMC9	ORPHA:475
HP:0012638	Abnormal nervous system physiology	3832	KIF11	ORPHA:2526
HP:0012638	Abnormal nervous system physiology	4190	MDH1	OMIM:618959
HP:0012638	Abnormal nervous system physiology	5654	HTRA1	OMIM:616779
HP:0012638	Abnormal nervous system physiology	9681	DEPDC5	OMIM:604364
HP:0012638	Abnormal nervous system physiology	617	BCS1L	OMIM:124000
HP:0012638	Abnormal nervous system physiology	113246	C12orf57	OMIM:218340
HP:0012638	Abnormal nervous system physiology	259266	ASPM	OMIM:608716
HP:0012638	Abnormal nervous system physiology	652	BMP4	ORPHA:139471
HP:0012638	Abnormal nervous system physiology	8192	CLPP	OMIM:614129
HP:0012638	Abnormal nervous system physiology	85378	TUBGCP6	ORPHA:2518
HP:0012638	Abnormal nervous system physiology	85378	TUBGCP6	OMIM:251270
HP:0012638	Abnormal nervous system physiology	27229	TUBGCP4	ORPHA:2518
HP:0012638	Abnormal nervous system physiology	9939	RBM8A	OMIM:274000
HP:0012638	Abnormal nervous system physiology	22930	RAB3GAP1	ORPHA:2510
HP:0012638	Abnormal nervous system physiology	25782	RAB3GAP2	ORPHA:2510
HP:0012638	Abnormal nervous system physiology	22931	RAB18	ORPHA:2510
HP:0012638	Abnormal nervous system physiology	9451	EIF2AK3	ORPHA:1667
HP:0012638	Abnormal nervous system physiology	11141	IL1RAPL1	OMIM:300143
HP:0012638	Abnormal nervous system physiology	23309	SIN3B	ORPHA:500166
HP:0012638	Abnormal nervous system physiology	8884	SLC5A6	OMIM:618973
HP:0012638	Abnormal nervous system physiology	55367	PIDD1	OMIM:619827
HP:0012638	Abnormal nervous system physiology	84148	KAT8	OMIM:618974
HP:0012638	Abnormal nervous system physiology	5274	SERPINI1	OMIM:604218
HP:0012638	Abnormal nervous system physiology	29899	GPSM2	OMIM:604213
HP:0012638	Abnormal nervous system physiology	23141	ANKLE2	OMIM:616681
HP:0012638	Abnormal nervous system physiology	104	ADARB1	OMIM:618862
HP:0012638	Abnormal nervous system physiology	50651	SLC45A1	OMIM:617532
HP:0012638	Abnormal nervous system physiology	57468	SLC12A5	OMIM:616685
HP:0012638	Abnormal nervous system physiology	57468	SLC12A5	OMIM:616645
HP:0012638	Abnormal nervous system physiology	5723	PSPH	OMIM:614023
HP:0012638	Abnormal nervous system physiology	8518	ELP1	ORPHA:1764
HP:0012638	Abnormal nervous system physiology	60684	TRAPPC11	OMIM:615356
HP:0012638	Abnormal nervous system physiology	60684	TRAPPC11	ORPHA:369847
HP:0012638	Abnormal nervous system physiology	10973	ASCC3	OMIM:620700
HP:0012638	Abnormal nervous system physiology	347733	TUBB2B	ORPHA:1766
HP:0012638	Abnormal nervous system physiology	347733	TUBB2B	ORPHA:300573
HP:0012638	Abnormal nervous system physiology	347733	TUBB2B	OMIM:610031
HP:0012638	Abnormal nervous system physiology	124997	WDR81	ORPHA:1766
HP:0012638	Abnormal nervous system physiology	51761	ATP8A2	ORPHA:1766
HP:0012638	Abnormal nervous system physiology	767	CA8	ORPHA:1766
HP:0012638	Abnormal nervous system physiology	4536	MT-ND2	ORPHA:255210
HP:0012638	Abnormal nervous system physiology	4537	MT-ND3	ORPHA:255210
HP:0012638	Abnormal nervous system physiology	4577	MT-TV	ORPHA:255210
HP:0012638	Abnormal nervous system physiology	3158	HMGCS2	ORPHA:35701
HP:0012638	Abnormal nervous system physiology	3158	HMGCS2	OMIM:605911
HP:0012638	Abnormal nervous system physiology	116931	MED12L	OMIM:618872
HP:0012638	Abnormal nervous system physiology	249	ALPL	OMIM:241500
HP:0012638	Abnormal nervous system physiology	249	ALPL	OMIM:241510
HP:0012638	Abnormal nervous system physiology	3020	H3-3A	OMIM:619720
HP:0012638	Abnormal nervous system physiology	8722	CTSF	OMIM:615362
HP:0012638	Abnormal nervous system physiology	1644	DDC	ORPHA:35708
HP:0012638	Abnormal nervous system physiology	10026	PIGK	OMIM:618879
HP:0012638	Abnormal nervous system physiology	64218	SEMA4A	ORPHA:440437
HP:0012638	Abnormal nervous system physiology	675	BRCA2	ORPHA:440437
HP:0012638	Abnormal nervous system physiology	657	BMPR1A	ORPHA:440437
HP:0012638	Abnormal nervous system physiology	6224	RPS20	ORPHA:440437
HP:0012638	Abnormal nervous system physiology	4595	MUTYH	ORPHA:440437
HP:0012638	Abnormal nervous system physiology	5424	POLD1	ORPHA:440437
HP:0012638	Abnormal nervous system physiology	11200	CHEK2	ORPHA:440437
HP:0012638	Abnormal nervous system physiology	375387	NRROS	OMIM:618875
HP:0012638	Abnormal nervous system physiology	10501	SEMA6B	OMIM:618876
HP:0012638	Abnormal nervous system physiology	5610	EIF2AK2	OMIM:618877
HP:0012638	Abnormal nervous system physiology	10381	TUBB3	OMIM:614039
HP:0012638	Abnormal nervous system physiology	10381	TUBB3	ORPHA:300570
HP:0012638	Abnormal nervous system physiology	140803	TRPM6	OMIM:602014
HP:0012638	Abnormal nervous system physiology	2590	GALNT2	OMIM:618885
HP:0012638	Abnormal nervous system physiology	9692	PRORP	OMIM:619737
HP:0012638	Abnormal nervous system physiology	6773	STAT2	OMIM:618886
HP:0012638	Abnormal nervous system physiology	51319	RSRC1	OMIM:618402
HP:0012638	Abnormal nervous system physiology	8560	DEGS1	OMIM:618404
HP:0012638	Abnormal nervous system physiology	7020	TFAP2A	OMIM:113620
HP:0012638	Abnormal nervous system physiology	8726	EED	OMIM:617561
HP:0012638	Abnormal nervous system physiology	84504	NKX6-2	OMIM:617560
HP:0012638	Abnormal nervous system physiology	84504	NKX6-2	ORPHA:527497
HP:0012638	Abnormal nervous system physiology	4297	KMT2A	ORPHA:319182
HP:0012638	Abnormal nervous system physiology	4297	KMT2A	OMIM:605130
HP:0012638	Abnormal nervous system physiology	833	CARS1	OMIM:618891
HP:0012638	Abnormal nervous system physiology	284439	SLC25A42	OMIM:618416
HP:0012638	Abnormal nervous system physiology	79600	TCTN1	ORPHA:475
HP:0012638	Abnormal nervous system physiology	200894	ARL13B	ORPHA:475
HP:0012638	Abnormal nervous system physiology	9731	CEP104	ORPHA:475
HP:0012638	Abnormal nervous system physiology	219844	HYLS1	ORPHA:475
HP:0012638	Abnormal nervous system physiology	23247	KATNIP	ORPHA:475
HP:0012638	Abnormal nervous system physiology	219854	TMEM218	ORPHA:475
HP:0012638	Abnormal nervous system physiology	9786	KIAA0586	ORPHA:475
HP:0012638	Abnormal nervous system physiology	79867	TCTN2	ORPHA:475
HP:0012638	Abnormal nervous system physiology	10464	PIBF1	ORPHA:475
HP:0012638	Abnormal nervous system physiology	23116	TOGARAM1	ORPHA:475
HP:0012638	Abnormal nervous system physiology	25776	CBY1	ORPHA:475
HP:0012638	Abnormal nervous system physiology	27077	B9D1	ORPHA:475
HP:0012638	Abnormal nervous system physiology	403	ARL3	ORPHA:475
HP:0012638	Abnormal nervous system physiology	339983	NAT8L	OMIM:614063
HP:0012638	Abnormal nervous system physiology	8879	SGPL1	OMIM:617575
HP:0012638	Abnormal nervous system physiology	51604	PIGT	OMIM:615398
HP:0012638	Abnormal nervous system physiology	57282	SLC4A10	OMIM:620746
HP:0012638	Abnormal nervous system physiology	391356	PTRHD1	OMIM:620747
HP:0012638	Abnormal nervous system physiology	8021	NUP214	OMIM:618426
HP:0012638	Abnormal nervous system physiology	2643	GCH1	OMIM:233910
HP:0012638	Abnormal nervous system physiology	8364	H4C3	OMIM:619758
HP:0012638	Abnormal nervous system physiology	85365	ALG2	ORPHA:79326
HP:0012638	Abnormal nervous system physiology	8733	GPAA1	ORPHA:529665
HP:0012638	Abnormal nervous system physiology	27086	FOXP1	ORPHA:391372
HP:0012638	Abnormal nervous system physiology	6942	TCF20	OMIM:618430
HP:0012638	Abnormal nervous system physiology	51341	ZBTB7A	OMIM:619769
HP:0012638	Abnormal nervous system physiology	7841	MOGS	ORPHA:79330
HP:0012638	Abnormal nervous system physiology	7841	MOGS	OMIM:606056
HP:0012638	Abnormal nervous system physiology	9338	TCEAL1	OMIM:301094
HP:0012638	Abnormal nervous system physiology	540	ATP7B	OMIM:277900
HP:0012638	Abnormal nervous system physiology	540	ATP7B	ORPHA:905
HP:0012638	Abnormal nervous system physiology	7030	TFE3	OMIM:301066
HP:0012638	Abnormal nervous system physiology	51651	PTRH2	OMIM:616263
HP:0012638	Abnormal nervous system physiology	54941	RNF125	OMIM:616260
HP:0012638	Abnormal nervous system physiology	8131	NPRL3	OMIM:617118
HP:0012638	Abnormal nervous system physiology	10641	NPRL2	OMIM:617116
HP:0012638	Abnormal nervous system physiology	10195	ALG3	ORPHA:79321
HP:0012638	Abnormal nervous system physiology	10195	ALG3	OMIM:601110
HP:0012638	Abnormal nervous system physiology	79087	ALG12	ORPHA:79324
HP:0012638	Abnormal nervous system physiology	79053	ALG8	ORPHA:79325
HP:0012638	Abnormal nervous system physiology	9896	FIG4	ORPHA:208441
HP:0012638	Abnormal nervous system physiology	8295	TRRAP	OMIM:618454
HP:0012638	Abnormal nervous system physiology	3658	IREB2	OMIM:618451
HP:0012638	Abnormal nervous system physiology	221078	NSUN6	OMIM:620779
HP:0012638	Abnormal nervous system physiology	55770	EXOC2	OMIM:619306
HP:0012638	Abnormal nervous system physiology	27145	FILIP1	OMIM:620775
HP:0012638	Abnormal nervous system physiology	1801	DPH1	ORPHA:459061
HP:0012638	Abnormal nervous system physiology	1802	DPH2	ORPHA:459061
HP:0012638	Abnormal nervous system physiology	10371	SEMA3A	ORPHA:478
HP:0012638	Abnormal nervous system physiology	81848	SPRY4	ORPHA:478
HP:0012638	Abnormal nervous system physiology	23767	FLRT3	ORPHA:478
HP:0012638	Abnormal nervous system physiology	79625	NDNF	ORPHA:478
HP:0012638	Abnormal nervous system physiology	389549	FEZF1	ORPHA:478
HP:0012638	Abnormal nervous system physiology	3730	ANOS1	ORPHA:478
HP:0012638	Abnormal nervous system physiology	54756	IL17RD	ORPHA:478
HP:0012638	Abnormal nervous system physiology	285025	CCDC141	ORPHA:478
HP:0012638	Abnormal nervous system physiology	55636	CHD7	ORPHA:478
HP:0012638	Abnormal nervous system physiology	1848	DUSP6	ORPHA:478
HP:0012638	Abnormal nervous system physiology	6870	TACR3	ORPHA:478
HP:0012638	Abnormal nervous system physiology	9394	HS6ST1	ORPHA:478
HP:0012638	Abnormal nervous system physiology	8822	FGF17	ORPHA:478
HP:0012638	Abnormal nervous system physiology	84706	GPT2	OMIM:616281
HP:0012638	Abnormal nervous system physiology	84706	GPT2	ORPHA:477673
HP:0012638	Abnormal nervous system physiology	5898	RALA	OMIM:619311
HP:0012638	Abnormal nervous system physiology	1317	SLC31A1	OMIM:620306
HP:0012638	Abnormal nervous system physiology	85476	GFM1	OMIM:609060
HP:0012638	Abnormal nervous system physiology	2355	FOSL2	OMIM:620789
HP:0012638	Abnormal nervous system physiology	79903	NAA60	OMIM:620786
HP:0012638	Abnormal nervous system physiology	11267	SNF8	OMIM:620784
HP:0012638	Abnormal nervous system physiology	11267	SNF8	OMIM:620783
HP:0012638	Abnormal nervous system physiology	84320	ACBD6	OMIM:620785
HP:0012638	Abnormal nervous system physiology	10102	TSFM	OMIM:610505
HP:0012638	Abnormal nervous system physiology	256297	PTF1A	OMIM:609069
HP:0012638	Abnormal nervous system physiology	22854	NTNG1	ORPHA:3095
HP:0012638	Abnormal nervous system physiology	23102	TBC1D2B	OMIM:619323
HP:0012638	Abnormal nervous system physiology	29998	BICRA	OMIM:619325
HP:0012638	Abnormal nervous system physiology	6651	SON	OMIM:617140
HP:0012638	Abnormal nervous system physiology	23030	KDM4B	OMIM:619320
HP:0012638	Abnormal nervous system physiology	7453	WARS1	OMIM:620317
HP:0012638	Abnormal nervous system physiology	29968	PSAT1	OMIM:610992
HP:0012638	Abnormal nervous system physiology	29968	PSAT1	ORPHA:284417
HP:0012638	Abnormal nervous system physiology	157922	CAMSAP1	OMIM:620316
HP:0012638	Abnormal nervous system physiology	8891	EIF2B3	OMIM:620313
HP:0012638	Abnormal nervous system physiology	5698	PSMB9	OMIM:620796
HP:0012638	Abnormal nervous system physiology	6263	RYR3	OMIM:620310
HP:0012638	Abnormal nervous system physiology	10166	SLC25A15	ORPHA:415
HP:0012638	Abnormal nervous system physiology	84892	POMGNT2	ORPHA:899
HP:0012638	Abnormal nervous system physiology	10329	RXYLT1	ORPHA:899
HP:0012638	Abnormal nervous system physiology	1605	DAG1	ORPHA:899
HP:0012638	Abnormal nervous system physiology	4942	OAT	ORPHA:414
HP:0012638	Abnormal nervous system physiology	1725	DHPS	OMIM:618480
HP:0012638	Abnormal nervous system physiology	28982	FLVCR1	ORPHA:88628
HP:0012638	Abnormal nervous system physiology	4621	MYH3	OMIM:193700
HP:0012638	Abnormal nervous system physiology	2560	GABRB1	OMIM:617153
HP:0012638	Abnormal nervous system physiology	23221	RHOBTB2	OMIM:618004
HP:0012638	Abnormal nervous system physiology	2530	FUT8	OMIM:618005
HP:0012638	Abnormal nervous system physiology	34	ACADM	OMIM:201450
HP:0012638	Abnormal nervous system physiology	7965	AIMP2	OMIM:618006
HP:0012638	Abnormal nervous system physiology	10157	AASS	OMIM:238700
HP:0012638	Abnormal nervous system physiology	10157	AASS	ORPHA:3124
HP:0012638	Abnormal nervous system physiology	10157	AASS	ORPHA:2203
HP:0012638	Abnormal nervous system physiology	1781	DYNC1I2	OMIM:618492
HP:0012638	Abnormal nervous system physiology	372	ARCN1	OMIM:617164
HP:0012638	Abnormal nervous system physiology	3977	LIFR	OMIM:601559
HP:0012638	Abnormal nervous system physiology	5283	PIGH	OMIM:618010
HP:0012638	Abnormal nervous system physiology	5144	PDE4D	ORPHA:439822
HP:0012638	Abnormal nervous system physiology	84668	HYCC1	OMIM:610532
HP:0012638	Abnormal nervous system physiology	1938	EEF2	ORPHA:101112
HP:0012638	Abnormal nervous system physiology	35	ACADS	OMIM:201470
HP:0012638	Abnormal nervous system physiology	35	ACADS	ORPHA:26792
HP:0012638	Abnormal nervous system physiology	145173	B3GLCT	OMIM:261540
HP:0012638	Abnormal nervous system physiology	128240	NAXE	OMIM:617186
HP:0012638	Abnormal nervous system physiology	3198	HOXA1	OMIM:601536
HP:0012638	Abnormal nervous system physiology	79143	MBOAT7	OMIM:617188
HP:0012638	Abnormal nervous system physiology	539	ATP5PO	OMIM:620359
HP:0012638	Abnormal nervous system physiology	55252	ASXL2	OMIM:617190
HP:0012638	Abnormal nervous system physiology	1650	DDOST	ORPHA:300536
HP:0012638	Abnormal nervous system physiology	6904	TBCD	OMIM:617193
HP:0012638	Abnormal nervous system physiology	51371	POMP	OMIM:618048
HP:0012638	Abnormal nervous system physiology	2733	GLE1	OMIM:611890
HP:0012638	Abnormal nervous system physiology	55005	RMND1	OMIM:614922
HP:0012638	Abnormal nervous system physiology	3295	HSD17B4	OMIM:261515
HP:0012638	Abnormal nervous system physiology	10295	BCKDK	OMIM:614923
HP:0012638	Abnormal nervous system physiology	124454	EARS2	OMIM:614924
HP:0012638	Abnormal nervous system physiology	55074	OXR1	OMIM:213000
HP:0012638	Abnormal nervous system physiology	5076	PAX2	OMIM:120330
HP:0012638	Abnormal nervous system physiology	11011	TLK2	OMIM:618050
HP:0012638	Abnormal nervous system physiology	23040	MYT1L	ORPHA:647799
HP:0012638	Abnormal nervous system physiology	27072	VPS41	OMIM:619389
HP:0012638	Abnormal nervous system physiology	9054	NFS1	OMIM:619386
HP:0012638	Abnormal nervous system physiology	221927	BRAT1	OMIM:618056
HP:0012638	Abnormal nervous system physiology	267	AMFR	OMIM:620379
HP:0012638	Abnormal nervous system physiology	161742	SPRED1	ORPHA:137605
HP:0012638	Abnormal nervous system physiology	90952	ESAM	OMIM:620371
HP:0012638	Abnormal nervous system physiology	11113	CIT	OMIM:617090
HP:0012638	Abnormal nervous system physiology	4702	NDUFA8	OMIM:619272
HP:0012638	Abnormal nervous system physiology	27183	VPS4A	OMIM:619273
HP:0012638	Abnormal nervous system physiology	10128	LRPPRC	OMIM:220111
HP:0012638	Abnormal nervous system physiology	10128	LRPPRC	ORPHA:70472
HP:0012638	Abnormal nervous system physiology	4570	MT-TN	OMIM:220110
HP:0012638	Abnormal nervous system physiology	6834	SURF1	OMIM:220110
HP:0012638	Abnormal nervous system physiology	132158	GLYCTK	ORPHA:941
HP:0012638	Abnormal nervous system physiology	132158	GLYCTK	OMIM:220120
HP:0012638	Abnormal nervous system physiology	9442	MED27	OMIM:619286
HP:0012638	Abnormal nervous system physiology	64601	VPS16	OMIM:619291
HP:0012638	Abnormal nervous system physiology	7084	TK2	OMIM:609560
HP:0012638	Abnormal nervous system physiology	22897	CEP164	OMIM:614845
HP:0012638	Abnormal nervous system physiology	36	ACADSB	OMIM:610006
HP:0012638	Abnormal nervous system physiology	7276	TTR	OMIM:105210
HP:0012638	Abnormal nervous system physiology	5095	PCCA	OMIM:606054
HP:0012638	Abnormal nervous system physiology	5096	PCCB	OMIM:606054
HP:0012638	Abnormal nervous system physiology	26523	AGO1	OMIM:620292
HP:0012638	Abnormal nervous system physiology	776	CACNA1D	ORPHA:369929
HP:0012638	Abnormal nervous system physiology	51199	NIN	OMIM:614851
HP:0012638	Abnormal nervous system physiology	51199	NIN	ORPHA:319675
HP:0012638	Abnormal nervous system physiology	65998	ZFTA	ORPHA:251636
HP:0012638	Abnormal nervous system physiology	22995	CEP152	OMIM:614852
HP:0012638	Abnormal nervous system physiology	4338	MOCS2	OMIM:252160
HP:0012638	Abnormal nervous system physiology	2752	GLUL	OMIM:610015
HP:0012638	Abnormal nervous system physiology	9255	AIMP1	OMIM:260600
HP:0012638	Abnormal nervous system physiology	11340	EXOSC8	ORPHA:2254
HP:0012638	Abnormal nervous system physiology	23287	AGTPBP1	ORPHA:2254
HP:0012638	Abnormal nervous system physiology	7443	VRK1	ORPHA:2254
HP:0012638	Abnormal nervous system physiology	91137	SLC25A46	ORPHA:2254
HP:0012638	Abnormal nervous system physiology	5297	PI4KA	ORPHA:98889
HP:0012638	Abnormal nervous system physiology	5297	PI4KA	OMIM:619708
HP:0012638	Abnormal nervous system physiology	3115	HLA-DPB1	ORPHA:900
HP:0012638	Abnormal nervous system physiology	5657	PRTN3	ORPHA:900
HP:0012638	Abnormal nervous system physiology	3113	HLA-DPA1	ORPHA:900
HP:0012638	Abnormal nervous system physiology	728294	D2HGDH	OMIM:600721
HP:0012638	Abnormal nervous system physiology	9095	TBX19	OMIM:201400
HP:0012638	Abnormal nervous system physiology	10165	SLC25A13	ORPHA:247585
HP:0012638	Abnormal nervous system physiology	50628	GEMIN4	OMIM:617913
HP:0012638	Abnormal nervous system physiology	51574	LARP7	ORPHA:319671
HP:0012638	Abnormal nervous system physiology	3329	HSPD1	OMIM:612233
HP:0012638	Abnormal nervous system physiology	10695	CNPY3	OMIM:617929
HP:0012638	Abnormal nervous system physiology	7507	XPA	ORPHA:910
HP:0012638	Abnormal nervous system physiology	2071	ERCC3	ORPHA:910
HP:0012638	Abnormal nervous system physiology	7508	XPC	ORPHA:910
HP:0012638	Abnormal nervous system physiology	1643	DDB2	ORPHA:910
HP:0012638	Abnormal nervous system physiology	9698	PUM1	OMIM:617931
HP:0012638	Abnormal nervous system physiology	100151683	RNU4ATAC	OMIM:210710
HP:0012638	Abnormal nervous system physiology	100151683	RNU4ATAC	ORPHA:2636
HP:0012638	Abnormal nervous system physiology	53616	ADAM22	OMIM:617933
HP:0012638	Abnormal nervous system physiology	6303	SAT1	ORPHA:93552
HP:0012638	Abnormal nervous system physiology	27249	MMADHC	OMIM:277410
HP:0012638	Abnormal nervous system physiology	27249	MMADHC	ORPHA:79283
HP:0012638	Abnormal nervous system physiology	55187	VPS13D	OMIM:607317
HP:0012638	Abnormal nervous system physiology	7280	TUBB2A	OMIM:615763
HP:0012638	Abnormal nervous system physiology	4953	ODC1	ORPHA:544488
HP:0012638	Abnormal nervous system physiology	2592	GALT	ORPHA:79239
HP:0012638	Abnormal nervous system physiology	9512	PMPCB	OMIM:617954
HP:0012638	Abnormal nervous system physiology	2058	EPRS1	OMIM:617951
HP:0012638	Abnormal nervous system physiology	6335	SCN9A	ORPHA:46348
HP:0012638	Abnormal nervous system physiology	11280	SCN11A	ORPHA:46348
HP:0012638	Abnormal nervous system physiology	20	ABCA2	OMIM:618808
HP:0012638	Abnormal nervous system physiology	54664	TMEM106B	OMIM:617964
HP:0012638	Abnormal nervous system physiology	84818	IL17RC	ORPHA:1334
HP:0012638	Abnormal nervous system physiology	64581	CLEC7A	ORPHA:1334
HP:0012638	Abnormal nervous system physiology	23765	IL17RA	ORPHA:1334
HP:0012638	Abnormal nervous system physiology	10758	TRAF3IP2	ORPHA:1334
HP:0012638	Abnormal nervous system physiology	112744	IL17F	ORPHA:1334
HP:0012638	Abnormal nervous system physiology	190	NR0B1	ORPHA:95702
HP:0012638	Abnormal nervous system physiology	6785	ELOVL4	OMIM:614457
HP:0012638	Abnormal nervous system physiology	27010	TPK1	OMIM:614458
HP:0012638	Abnormal nervous system physiology	54658	UGT1A1	ORPHA:79234
HP:0012638	Abnormal nervous system physiology	2584	GALK1	ORPHA:79237
HP:0012638	Abnormal nervous system physiology	11019	LIAS	OMIM:614462
HP:0012638	Abnormal nervous system physiology	4337	MOCS1	OMIM:252150
HP:0012638	Abnormal nervous system physiology	3704	ITPA	OMIM:616647
HP:0012638	Abnormal nervous system physiology	56270	WDR45B	OMIM:617977
HP:0012638	Abnormal nervous system physiology	22934	RPIA	OMIM:608611
HP:0012638	Abnormal nervous system physiology	8405	SPOP	OMIM:618829
HP:0012638	Abnormal nervous system physiology	5162	PDHB	ORPHA:255138
HP:0012638	Abnormal nervous system physiology	23310	NCAPD3	OMIM:617984
HP:0012638	Abnormal nervous system physiology	6509	SLC1A4	OMIM:616657
HP:0012638	Abnormal nervous system physiology	126792	B3GALT6	ORPHA:536467
HP:0012638	Abnormal nervous system physiology	529	ATP6V1E1	ORPHA:357074
HP:0012638	Abnormal nervous system physiology	200205	IBA57	OMIM:615330
HP:0012638	Abnormal nervous system physiology	84631	SLITRK2	OMIM:301107
HP:0012638	Abnormal nervous system physiology	51780	KDM3B	OMIM:618846
HP:0012638	Abnormal nervous system physiology	5116	PCNT	ORPHA:2637
HP:0012638	Abnormal nervous system physiology	25974	MMACHC	ORPHA:79282
HP:0012638	Abnormal nervous system physiology	25974	MMACHC	OMIM:277400
HP:0012638	Abnormal nervous system physiology	63929	XPNPEP3	OMIM:613159
HP:0012638	Abnormal nervous system physiology	51294	PCDH12	OMIM:251280
HP:0012638	Abnormal nervous system physiology	55788	LMBRD1	ORPHA:79284
HP:0012638	Abnormal nervous system physiology	57731	SPTBN4	OMIM:617519
HP:0012638	Abnormal nervous system physiology	1807	DPYS	OMIM:222748
HP:0012638	Abnormal nervous system physiology	9130	FAM50A	OMIM:300261
HP:0012638	Abnormal nervous system physiology	51733	UPB1	OMIM:613161
HP:0012638	Abnormal nervous system physiology	18	ABAT	OMIM:613163
HP:0012638	Abnormal nervous system physiology	7543	ZFX	OMIM:301118
HP:0012638	Abnormal nervous system physiology	8738	CRADD	OMIM:614499
HP:0012638	Abnormal nervous system physiology	4858	NOVA2	OMIM:618859
HP:0012638	Abnormal nervous system physiology	22868	FASTKD2	OMIM:618855
HP:0012638	Abnormal nervous system physiology	1371	CPOX	ORPHA:79273
HP:0012638	Abnormal nervous system physiology	5052	PRDX1	OMIM:277400
HP:0012638	Abnormal nervous system physiology	55901	THSD1	ORPHA:231160
HP:0012638	Abnormal nervous system physiology	7049	TGFBR3	ORPHA:231160
HP:0012638	Abnormal nervous system physiology	83854	ANGPTL6	ORPHA:231160
HP:0012638	Abnormal nervous system physiology	5994	RFXAP	OMIM:620817
HP:0012638	Abnormal nervous system physiology	64849	SLC13A3	OMIM:618384
HP:0012638	Abnormal nervous system physiology	26146	TRAF3IP1	ORPHA:3156
HP:0012638	Abnormal nervous system physiology	27130	INVS	ORPHA:3156
HP:0012638	Abnormal nervous system physiology	261734	NPHP4	ORPHA:3156
HP:0012638	Abnormal nervous system physiology	57728	WDR19	ORPHA:3156
HP:0012638	Abnormal nervous system physiology	27031	NPHP3	ORPHA:3156
HP:0012638	Abnormal nervous system physiology	2038	EPB42	ORPHA:822
HP:0012638	Abnormal nervous system physiology	6521	SLC4A1	ORPHA:822
HP:0012638	Abnormal nervous system physiology	6710	SPTB	ORPHA:822
HP:0012638	Abnormal nervous system physiology	6708	SPTA1	ORPHA:822
HP:0012638	Abnormal nervous system physiology	131669	UROC1	OMIM:276880
HP:0012638	Abnormal nervous system physiology	131669	UROC1	ORPHA:210128
HP:0012638	Abnormal nervous system physiology	9699	RIMS2	OMIM:618970
HP:0012638	Abnormal nervous system physiology	8309	ACOX2	OMIM:617308
HP:0012638	Abnormal nervous system physiology	9474	ATG5	OMIM:617584
HP:0012638	Abnormal nervous system physiology	29893	PSMC3IP	ORPHA:243
HP:0012638	Abnormal nervous system physiology	171568	POLR3H	ORPHA:243
HP:0012638	Abnormal nervous system physiology	2516	NR5A1	ORPHA:243
HP:0012638	Abnormal nervous system physiology	125150	ZSWIM7	ORPHA:243
HP:0012638	Abnormal nervous system physiology	9210	BMP15	ORPHA:243
HP:0012638	Abnormal nervous system physiology	23514	SPIDR	ORPHA:243
HP:0012638	Abnormal nervous system physiology	2492	FSHR	ORPHA:243
HP:0012638	Abnormal nervous system physiology	646	BNC1	ORPHA:243
HP:0012638	Abnormal nervous system physiology	4438	MSH4	ORPHA:243
HP:0012638	Abnormal nervous system physiology	6548	SLC9A1	OMIM:616291
HP:0012638	Abnormal nervous system physiology	25929	GEMIN5	OMIM:619333
HP:0012638	Abnormal nervous system physiology	7399	USH2A	ORPHA:231178
HP:0012638	Abnormal nervous system physiology	79955	PDZD7	ORPHA:231178
HP:0012638	Abnormal nervous system physiology	25861	WHRN	ORPHA:231178
HP:0012638	Abnormal nervous system physiology	26576	SRPK3	OMIM:301134
HP:0012638	Abnormal nervous system physiology	7401	CLRN1	ORPHA:231183
HP:0012638	Abnormal nervous system physiology	22901	ARSG	ORPHA:231183
HP:0012638	Abnormal nervous system physiology	84131	CEP78	ORPHA:231183
HP:0012638	Abnormal nervous system physiology	148738	HJV	OMIM:602390
HP:0012638	Abnormal nervous system physiology	148738	HJV	ORPHA:79230
HP:0012638	Abnormal nervous system physiology	55065	SLC52A1	OMIM:615026
HP:0012638	Abnormal nervous system physiology	1591	CYP24A1	OMIM:143880
HP:0012638	Abnormal nervous system physiology	3875	KRT18	OMIM:215600
HP:0012638	Abnormal nervous system physiology	7019	TFAM	OMIM:617156
HP:0012638	Abnormal nervous system physiology	57817	HAMP	ORPHA:79230
HP:0012638	Abnormal nervous system physiology	54796	BNC2	ORPHA:93110
HP:0012638	Abnormal nervous system physiology	3764	KCNJ8	ORPHA:1517
HP:0012638	Abnormal nervous system physiology	80153	EDC3	OMIM:616460
HP:0012638	Abnormal nervous system physiology	6884	TAF13	OMIM:617432
HP:0012638	Abnormal nervous system physiology	81794	ADAMTS10	OMIM:277600
HP:0012638	Abnormal nervous system physiology	81794	ADAMTS10	ORPHA:3449
HP:0012638	Abnormal nervous system physiology	178	AGL	ORPHA:366
HP:0012638	Abnormal nervous system physiology	5908	RAP1B	OMIM:620654
HP:0012638	Abnormal nervous system physiology	4568	MT-TL2	ORPHA:663
HP:0012638	Abnormal nervous system physiology	3714	JAG2	OMIM:619566
HP:0012638	Abnormal nervous system physiology	23524	SRRM2	OMIM:620439
HP:0012638	Abnormal nervous system physiology	51473	DCDC2	OMIM:617394
HP:0012638	Abnormal nervous system physiology	55213	RCBTB1	OMIM:617175
HP:0012638	Abnormal nervous system physiology	29957	SLC25A24	ORPHA:2095
HP:0012638	Abnormal nervous system physiology	84905	ZNF341	OMIM:618282
HP:0012638	Abnormal nervous system physiology	23554	TSPAN12	ORPHA:891
HP:0012638	Abnormal nervous system physiology	79797	ZNF408	ORPHA:891
HP:0012638	Abnormal nervous system physiology	8322	FZD4	ORPHA:891
HP:0012638	Abnormal nervous system physiology	375056	MIA3	OMIM:619269
HP:0012638	Abnormal nervous system physiology	6499	SKIC2	ORPHA:84064
HP:0012638	Abnormal nervous system physiology	9382	COG1	ORPHA:263508
HP:0012638	Abnormal nervous system physiology	8546	AP3B1	OMIM:608233
HP:0012638	Abnormal nervous system physiology	4591	TRIM37	OMIM:253250
HP:0012638	Abnormal nervous system physiology	10984	KCNQ1OT1	ORPHA:2128
HP:0012638	Abnormal nervous system physiology	170691	ADAMTS17	ORPHA:3449
HP:0012638	Abnormal nervous system physiology	4053	LTBP2	ORPHA:3449
HP:0012638	Abnormal nervous system physiology	6307	MSMO1	OMIM:616834
HP:0012638	Abnormal nervous system physiology	10290	SPEG	ORPHA:169186
HP:0012638	Abnormal nervous system physiology	169792	GLIS3	OMIM:610199
HP:0012638	Abnormal nervous system physiology	2122	MECOM	OMIM:616738
HP:0012638	Abnormal nervous system physiology	29980	DONSON	OMIM:617604
HP:0012638	Abnormal nervous system physiology	23404	EXOSC2	OMIM:617763
HP:0012638	Abnormal nervous system physiology	1478	CSTF2	OMIM:301116
HP:0012638	Abnormal nervous system physiology	6736	SRY	ORPHA:1772
HP:0012638	Abnormal nervous system physiology	253959	RALGAPA1	OMIM:618797
HP:0012638	Abnormal nervous system physiology	8890	EIF2B4	OMIM:620314
HP:0012638	Abnormal nervous system physiology	8892	EIF2B2	OMIM:620312
HP:0012638	Abnormal nervous system physiology	63925	ZNF335	OMIM:615095
HP:0012638	Abnormal nervous system physiology	10092	ARPC5	OMIM:620565
HP:0012638	Abnormal nervous system physiology	27107	ZBTB11	OMIM:618383
HP:0012638	Abnormal nervous system physiology	9445	ITM2B	OMIM:117300
HP:0012638	Abnormal nervous system physiology	9445	ITM2B	OMIM:176500
HP:0012638	Abnormal nervous system physiology	84693	MCEE	OMIM:251120
HP:0012638	Abnormal nervous system physiology	10844	TUBGCP2	OMIM:618737
HP:0012638	Abnormal nervous system physiology	8893	EIF2B5	OMIM:620315
HP:0012638	Abnormal nervous system physiology	326625	MMAB	OMIM:251110
HP:0012638	Abnormal nervous system physiology	10068	IL18BP	OMIM:618549
HP:0012638	Abnormal nervous system physiology	4927	NUP88	ORPHA:994
HP:0012638	Abnormal nervous system physiology	4654	MYOD1	ORPHA:994
HP:0012638	Abnormal nervous system physiology	2671	GFER	OMIM:613076
HP:0012638	Abnormal nervous system physiology	2671	GFER	ORPHA:330054
HP:0012638	Abnormal nervous system physiology	54345	SOX18	OMIM:137940
HP:0012638	Abnormal nervous system physiology	5034	P4HB	OMIM:112240
HP:0012638	Abnormal nervous system physiology	5034	P4HB	ORPHA:2050
HP:0012638	Abnormal nervous system physiology	11311	VPS45	OMIM:615285
HP:0012638	Abnormal nervous system physiology	55072	RNF31	OMIM:620632
HP:0012638	Abnormal nervous system physiology	6603	SMARCD2	OMIM:617475
HP:0012638	Abnormal nervous system physiology	7873	MANF	OMIM:620651
HP:0012638	Abnormal nervous system physiology	4921	DDR2	OMIM:271665
HP:0012638	Abnormal nervous system physiology	6888	TALDO1	ORPHA:101028
HP:0012638	Abnormal nervous system physiology	7372	UMPS	ORPHA:30
HP:0012638	Abnormal nervous system physiology	7372	UMPS	OMIM:258900
HP:0012638	Abnormal nervous system physiology	51434	ANAPC7	OMIM:619699
HP:0012638	Abnormal nervous system physiology	84068	SLC10A7	OMIM:618363
HP:0012638	Abnormal nervous system physiology	7174	TPP2	OMIM:619220
HP:0012638	Abnormal nervous system physiology	51729	WBP11	OMIM:619227
HP:0012638	Abnormal nervous system physiology	11285	B4GALT7	ORPHA:75496
HP:0012638	Abnormal nervous system physiology	31	ACACA	OMIM:613933
HP:0012638	Abnormal nervous system physiology	10551	AGR2	OMIM:620233
HP:0012638	Abnormal nervous system physiology	55181	SMG8	OMIM:619268
HP:0012638	Abnormal nervous system physiology	168667	BMPER	OMIM:608022
HP:0012638	Abnormal nervous system physiology	2294	FOXF1	OMIM:265380
HP:0012638	Abnormal nervous system physiology	1272	CNTN1	OMIM:612540
HP:0012638	Abnormal nervous system physiology	92579	G6PC3	OMIM:612541
HP:0012638	Abnormal nervous system physiology	63894	VIPAS39	OMIM:613404
HP:0012638	Abnormal nervous system physiology	1906	EDN1	ORPHA:137888
HP:0012638	Abnormal nervous system physiology	5332	PLCB4	ORPHA:137888
HP:0012638	Abnormal nervous system physiology	2773	GNAI3	ORPHA:137888
HP:0012638	Abnormal nervous system physiology	8379	MAD1L1	OMIM:620189
HP:0012638	Abnormal nervous system physiology	55719	SLF2	OMIM:620184
HP:0012638	Abnormal nervous system physiology	121278	TPH2	OMIM:613003
HP:0012638	Abnormal nervous system physiology	80152	CENPT	OMIM:618702
HP:0012638	Abnormal nervous system physiology	10736	SIX2	ORPHA:488437
HP:0012638	Abnormal nervous system physiology	3284	HSD3B2	ORPHA:90791
HP:0012638	Abnormal nervous system physiology	79184	BRCC3	ORPHA:280679
HP:0012638	Abnormal nervous system physiology	85301	COL27A1	OMIM:615155
HP:0012638	Abnormal nervous system physiology	213	ALB	OMIM:616000
HP:0012638	Abnormal nervous system physiology	7385	UQCRC2	OMIM:615160
HP:0012638	Abnormal nervous system physiology	6514	SLC2A2	OMIM:227810
HP:0012638	Abnormal nervous system physiology	8312	AXIN1	OMIM:620558
HP:0012638	Abnormal nervous system physiology	4705	NDUFA10	OMIM:618243
HP:0012638	Abnormal nervous system physiology	23384	SPECC1L	OMIM:145420
HP:0012638	Abnormal nervous system physiology	2683	B4GALT1	OMIM:607091
HP:0012638	Abnormal nervous system physiology	23405	DICER1	OMIM:618272
HP:0012638	Abnormal nervous system physiology	90416	CCDC32	OMIM:619123
HP:0012638	Abnormal nervous system physiology	1795	DOCK3	OMIM:618292
HP:0012638	Abnormal nervous system physiology	54938	SARS2	OMIM:613845
HP:0012638	Abnormal nervous system physiology	9871	SEC24D	ORPHA:2050
HP:0012638	Abnormal nervous system physiology	9871	SEC24D	OMIM:616294
HP:0012638	Abnormal nervous system physiology	147007	TMEM199	OMIM:616829
HP:0012638	Abnormal nervous system physiology	51025	PAM16	OMIM:613320
HP:0012638	Abnormal nervous system physiology	1828	DSG1	OMIM:615508
HP:0012638	Abnormal nervous system physiology	865	CBFB	OMIM:620099
HP:0012638	Abnormal nervous system physiology	3313	HSPA9	OMIM:616854
HP:0012638	Abnormal nervous system physiology	83737	ITCH	OMIM:613385
HP:0012638	Abnormal nervous system physiology	83737	ITCH	ORPHA:228426
HP:0012638	Abnormal nervous system physiology	24142	NAA80	OMIM:620830
HP:0012638	Abnormal nervous system physiology	26258	BLOC1S6	OMIM:614171
HP:0012638	Abnormal nervous system physiology	55151	TMEM38B	OMIM:615066
HP:0012638	Abnormal nervous system physiology	6809	STX3	OMIM:619446
HP:0012638	Abnormal nervous system physiology	6809	STX3	ORPHA:2290
HP:0012638	Abnormal nervous system physiology	56975	FAM20C	OMIM:259775
HP:0012638	Abnormal nervous system physiology	9734	HDAC9	OMIM:620457
HP:0012638	Abnormal nervous system physiology	3988	LIPA	ORPHA:75233
HP:0012638	Abnormal nervous system physiology	2193	FARSA	OMIM:619013
HP:0012638	Abnormal nervous system physiology	26276	VPS33B	OMIM:620009
HP:0012638	Abnormal nervous system physiology	26276	VPS33B	OMIM:208085
HP:0012638	Abnormal nervous system physiology	3110	MNX1	OMIM:176450
HP:0012638	Abnormal nervous system physiology	11151	CORO1A	OMIM:615401
HP:0012638	Abnormal nervous system physiology	79576	NKAP	OMIM:301039
HP:0012638	Abnormal nervous system physiology	8985	PLOD3	OMIM:612394
HP:0012638	Abnormal nervous system physiology	25	ABL1	OMIM:617602
HP:0012638	Abnormal nervous system physiology	11222	MRPL3	OMIM:614582
HP:0012638	Abnormal nervous system physiology	60528	ELAC2	OMIM:615440
HP:0012638	Abnormal nervous system physiology	115286	SLC25A26	OMIM:616794
HP:0012638	Abnormal nervous system physiology	8625	RFXANK	OMIM:620815
HP:0012638	Abnormal nervous system physiology	3021	H3-3B	OMIM:619721
HP:0012638	Abnormal nervous system physiology	3162	HMOX1	OMIM:614034
HP:0012638	Abnormal nervous system physiology	4056	LTC4S	OMIM:614037
HP:0012638	Abnormal nervous system physiology	79639	TMEM53	OMIM:619727
HP:0012638	Abnormal nervous system physiology	6440	SFTPC	OMIM:610913
HP:0012638	Abnormal nervous system physiology	64175	P3H1	OMIM:610915
HP:0012638	Abnormal nervous system physiology	130589	GALM	OMIM:618881
HP:0012638	Abnormal nervous system physiology	79803	HPS6	OMIM:614075
HP:0012638	Abnormal nervous system physiology	51013	EXOSC1	OMIM:619304
HP:0012638	Abnormal nervous system physiology	6650	CAPN15	OMIM:619318
HP:0012638	Abnormal nervous system physiology	10073	SNUPN	OMIM:620793
HP:0012638	Abnormal nervous system physiology	84701	COX4I2	OMIM:612714
HP:0012638	Abnormal nervous system physiology	55898	UNC45A	OMIM:619377
HP:0012638	Abnormal nervous system physiology	5236	PGM1	OMIM:614921
HP:0012638	Abnormal nervous system physiology	4645	MYO5B	ORPHA:2290
HP:0012638	Abnormal nervous system physiology	347734	SLC35B2	OMIM:620269
HP:0012638	Abnormal nervous system physiology	11023	VAX1	OMIM:614402
HP:0012638	Abnormal nervous system physiology	4659	PPP1R12A	OMIM:618820
HP:0012638	Abnormal nervous system physiology	22871	NLGN1	OMIM:618830
HP:0012638	Abnormal nervous system physiology	28985	MCTS1	OMIM:301115
HP:0012638	Abnormal nervous system physiology	79650	USB1	ORPHA:1775
HP:0012638	Abnormal nervous system physiology	55135	WRAP53	ORPHA:1775
HP:0012638	Abnormal nervous system physiology	4869	NPM1	ORPHA:1775
HP:0012638	Abnormal nervous system physiology	96459	FNIP1	OMIM:619705
HP:0012638	Abnormal nervous system physiology	25871	NEPRO	OMIM:618853
HP:0012638	Abnormal nervous system physiology	9987	HNRNPDL	OMIM:609115
HP:0012638	Abnormal nervous system physiology	1340	COX6B1	OMIM:619051
HP:0012638	Abnormal nervous system physiology	4919	ROR1	OMIM:617654
HP:0012638	Abnormal nervous system physiology	1777	DNASE2	OMIM:619858
HP:0012638	Abnormal nervous system physiology	7386	UQCRFS1	OMIM:618775
HP:0012638	Abnormal nervous system physiology	6811	STX5	OMIM:620454
HP:0012638	Abnormal nervous system physiology	3636	INPPL1	OMIM:258480
HP:0012638	Abnormal nervous system physiology	3557	IL1RN	OMIM:612852
HP:0012638	Abnormal nervous system physiology	27178	IL37	OMIM:619398
HP:0012638	Abnormal nervous system physiology	91252	SLC39A13	OMIM:612350
HP:0012638	Abnormal nervous system physiology	84700	MYO18B	OMIM:616549
HP:0012638	Abnormal nervous system physiology	2201	FBN2	OMIM:121050
HP:0012638	Abnormal nervous system physiology	4632	MYL1	OMIM:618414
HP:0012638	Abnormal nervous system physiology	9453	GGPS1	OMIM:619518
HP:0012638	Abnormal nervous system physiology	51098	IFT52	OMIM:617102
HP:0012638	Abnormal nervous system physiology	30008	EFEMP2	ORPHA:90349
HP:0012638	Abnormal nervous system physiology	4534	MTM1	OMIM:310400
HP:0012638	Abnormal nervous system physiology	285590	SH3PXD2B	OMIM:249420
HP:0012638	Abnormal nervous system physiology	11014	KDELR2	OMIM:619131
HP:0012638	Abnormal nervous system physiology	100	ADA	OMIM:102700
HP:0012638	Abnormal nervous system physiology	90523	MLIP	OMIM:620138
HP:0012638	Abnormal nervous system physiology	5176	SERPINF1	OMIM:613982
HP:0012638	Abnormal nervous system physiology	9321	TRIP11	OMIM:184260
HP:0012638	Abnormal nervous system physiology	8087	FXR1	OMIM:618822
HP:0012638	Abnormal nervous system physiology	8087	FXR1	OMIM:618823
HP:0012638	Abnormal nervous system physiology	374462	PTPRQ	OMIM:613391
HP:0012638	Abnormal nervous system physiology	166929	SGMS2	OMIM:126550
HP:0012638	Abnormal nervous system physiology	26229	B3GAT3	OMIM:245600
HP:0012638	Abnormal nervous system physiology	7384	UQCRC1	OMIM:619279
HP:0012638	Abnormal nervous system physiology	23345	SYNE1	ORPHA:88644
HP:0012638	Abnormal nervous system physiology	5702	PSMC3	OMIM:619354
HP:0012638	Abnormal nervous system physiology	50846	DHH	OMIM:607080
HP:0012638	Abnormal nervous system physiology	50846	DHH	ORPHA:168563
HP:0012638	Abnormal nervous system physiology	10229	COQ7	OMIM:616733
HP:0012638	Abnormal nervous system physiology	1910	EDNRB	OMIM:277580
HP:0012638	Abnormal nervous system physiology	966	CD59	OMIM:612300
HP:0012638	Abnormal nervous system physiology	567	B2M	OMIM:620659
HP:0012638	Abnormal nervous system physiology	23299	BICD2	OMIM:615290
HP:0012638	Abnormal nervous system physiology	1145	CHRNE	OMIM:605809
HP:0012638	Abnormal nervous system physiology	91574	MTRFR	ORPHA:254930
HP:0012638	Abnormal nervous system physiology	10755	GIPC1	OMIM:618940
HP:0012638	Abnormal nervous system physiology	7072	TIA1	OMIM:619133
HP:0012638	Abnormal nervous system physiology	56203	LMOD3	OMIM:616165
HP:0012638	Abnormal nervous system physiology	9782	MATR3	OMIM:606070
HP:0012638	Abnormal nervous system physiology	9782	MATR3	ORPHA:600
HP:0012638	Abnormal nervous system physiology	400916	CHCHD10	OMIM:615911
HP:0012638	Abnormal nervous system physiology	400916	CHCHD10	ORPHA:275872
HP:0012638	Abnormal nervous system physiology	3098	HK1	OMIM:618547
HP:0012638	Abnormal nervous system physiology	113278	SLC52A3	OMIM:211500
HP:0012638	Abnormal nervous system physiology	113278	SLC52A3	OMIM:211530
HP:0012638	Abnormal nervous system physiology	1134	CHRNA1	OMIM:608930
HP:0012638	Abnormal nervous system physiology	4703	NEB	OMIM:256030
HP:0012638	Abnormal nervous system physiology	2521	FUS	ORPHA:275872
HP:0012638	Abnormal nervous system physiology	8878	SQSTM1	ORPHA:275872
HP:0012638	Abnormal nervous system physiology	8878	SQSTM1	OMIM:616437
HP:0012638	Abnormal nervous system physiology	7415	VCP	ORPHA:275872
HP:0012638	Abnormal nervous system physiology	23435	TARDBP	ORPHA:275872
HP:0012638	Abnormal nervous system physiology	58	ACTA1	OMIM:161800
HP:0012638	Abnormal nervous system physiology	79581	SLC52A2	OMIM:614707
HP:0012638	Abnormal nervous system physiology	10049	DNAJB6	OMIM:603511
HP:0012638	Abnormal nervous system physiology	1674	DES	OMIM:601419
HP:0012638	Abnormal nervous system physiology	7170	TPM3	OMIM:255310
HP:0012638	Abnormal nervous system physiology	367	AR	OMIM:313200
HP:0012638	Abnormal nervous system physiology	54822	TRPM7	OMIM:105500
HP:0012638	Abnormal nervous system physiology	2934	GSN	OMIM:105120
HP:0012638	Abnormal nervous system physiology	6310	ATXN1	OMIM:164400
HP:0012638	Abnormal nervous system physiology	285489	DOK7	OMIM:254300
HP:0012638	Abnormal nervous system physiology	270	AMPD1	OMIM:615511
HP:0012638	Abnormal nervous system physiology	825	CAPN3	OMIM:253600
HP:0012638	Abnormal nervous system physiology	825	CAPN3	ORPHA:267
HP:0012638	Abnormal nervous system physiology	825	CAPN3	OMIM:618129
HP:0012638	Abnormal nervous system physiology	120227	CYP2R1	OMIM:600081
HP:0012638	Abnormal nervous system physiology	120227	CYP2R1	ORPHA:289157
HP:0012638	Abnormal nervous system physiology	4625	MYH7	OMIM:160500
HP:0012638	Abnormal nervous system physiology	4625	MYH7	ORPHA:59135
HP:0012638	Abnormal nervous system physiology	4625	MYH7	OMIM:608358
HP:0012638	Abnormal nervous system physiology	6444	SGCD	OMIM:601287
HP:0012638	Abnormal nervous system physiology	11107	PRDM5	OMIM:614170
HP:0012638	Abnormal nervous system physiology	11107	PRDM5	ORPHA:90354
HP:0012638	Abnormal nervous system physiology	1594	CYP27B1	OMIM:264700
HP:0012638	Abnormal nervous system physiology	1594	CYP27B1	ORPHA:289157
HP:0012638	Abnormal nervous system physiology	88	ACTN2	OMIM:618655
HP:0012638	Abnormal nervous system physiology	7471	WNT1	ORPHA:85193
HP:0012638	Abnormal nervous system physiology	89780	WNT3A	ORPHA:85193
HP:0012638	Abnormal nervous system physiology	7273	TTN	OMIM:603689
HP:0012638	Abnormal nervous system physiology	7273	TTN	ORPHA:178464
HP:0012638	Abnormal nervous system physiology	7273	TTN	ORPHA:609
HP:0012638	Abnormal nervous system physiology	142680	SLC34A3	OMIM:241530
HP:0012638	Abnormal nervous system physiology	203859	ANO5	ORPHA:399096
HP:0012638	Abnormal nervous system physiology	6621	SNAPC4	OMIM:620515
HP:0012638	Abnormal nervous system physiology	6901	TAFAZZIN	OMIM:302060
HP:0012638	Abnormal nervous system physiology	84627	ZNF469	ORPHA:90354
HP:0012638	Abnormal nervous system physiology	4883	NPR3	OMIM:619543
HP:0012638	Abnormal nervous system physiology	6443	SGCB	ORPHA:119
HP:0012638	Abnormal nervous system physiology	518	ATP5MC3	OMIM:619681
HP:0012638	Abnormal nervous system physiology	26175	LYSET	OMIM:619345
HP:0012638	Abnormal nervous system physiology	2992	GYG1	OMIM:616199
HP:0012638	Abnormal nervous system physiology	4762	NEUROG1	OMIM:620469
HP:0012638	Abnormal nervous system physiology	5317	PKP1	ORPHA:158668
HP:0012638	Abnormal nervous system physiology	1073	CFL2	OMIM:610687
HP:0012638	Abnormal nervous system physiology	1073	CFL2	ORPHA:171436
HP:0012638	Abnormal nervous system physiology	80217	CFAP43	OMIM:236690
HP:0012638	Abnormal nervous system physiology	125170	MIEF2	OMIM:619024
HP:0012638	Abnormal nervous system physiology	7421	VDR	ORPHA:93160
HP:0012638	Abnormal nervous system physiology	7421	VDR	OMIM:277440
HP:0012638	Abnormal nervous system physiology	84876	ORAI1	OMIM:612782
HP:0012638	Abnormal nervous system physiology	8557	TCAP	OMIM:601954
HP:0012638	Abnormal nervous system physiology	5255	PHKA1	ORPHA:715
HP:0012638	Abnormal nervous system physiology	5260	PHKG1	ORPHA:715
HP:0012638	Abnormal nervous system physiology	2259	FGF14	ORPHA:98764
HP:0012638	Abnormal nervous system physiology	10613	ERLIN1	ORPHA:401785
HP:0012638	Abnormal nervous system physiology	10613	ERLIN1	OMIM:615681
HP:0012638	Abnormal nervous system physiology	11149	POPDC1	OMIM:616812
HP:0012638	Abnormal nervous system physiology	84033	OBSCN	ORPHA:99845
HP:0012638	Abnormal nervous system physiology	23175	LPIN1	ORPHA:99845
HP:0012638	Abnormal nervous system physiology	60681	FKBP10	ORPHA:1149
HP:0012638	Abnormal nervous system physiology	51142	CHCHD2	OMIM:616710
HP:0012638	Abnormal nervous system physiology	579	NKX3-2	OMIM:613330
HP:0012638	Abnormal nervous system physiology	4148	MATN3	ORPHA:93311
HP:0012638	Abnormal nervous system physiology	6652	SORD	OMIM:618912
HP:0012638	Abnormal nervous system physiology	84679	SLC9A7	OMIM:301024
HP:0012638	Abnormal nervous system physiology	57599	WDR48	ORPHA:401800
HP:0012638	Abnormal nervous system physiology	81545	FBXO38	OMIM:615575
HP:0012638	Abnormal nervous system physiology	4322	MMP13	ORPHA:2501
HP:0012638	Abnormal nervous system physiology	7388	UQCRH	OMIM:620137
HP:0012638	Abnormal nervous system physiology	25915	NDUFAF3	ORPHA:2609
HP:0012638	Abnormal nervous system physiology	51103	NDUFAF1	ORPHA:2609
HP:0012638	Abnormal nervous system physiology	51103	NDUFAF1	OMIM:618234
HP:0012638	Abnormal nervous system physiology	4716	NDUFB10	ORPHA:2609
HP:0012638	Abnormal nervous system physiology	55863	TMEM126B	ORPHA:2609
HP:0012638	Abnormal nervous system physiology	4729	NDUFV2	ORPHA:2609
HP:0012638	Abnormal nervous system physiology	4729	NDUFV2	OMIM:618229
HP:0012638	Abnormal nervous system physiology	4720	NDUFS2	ORPHA:2609
HP:0012638	Abnormal nervous system physiology	4724	NDUFS4	ORPHA:2609
HP:0012638	Abnormal nervous system physiology	4722	NDUFS3	ORPHA:2609
HP:0012638	Abnormal nervous system physiology	4722	NDUFS3	OMIM:618230
HP:0012638	Abnormal nervous system physiology	4709	NDUFB3	ORPHA:2609
HP:0012638	Abnormal nervous system physiology	4709	NDUFB3	OMIM:618246
HP:0012638	Abnormal nervous system physiology	80224	NUBPL	ORPHA:2609
HP:0012638	Abnormal nervous system physiology	29078	NDUFAF4	ORPHA:2609
HP:0012638	Abnormal nervous system physiology	29078	NDUFAF4	OMIM:618237
HP:0012638	Abnormal nervous system physiology	4715	NDUFB9	ORPHA:2609
HP:0012638	Abnormal nervous system physiology	27247	NFU1	OMIM:620938
HP:0012638	Abnormal nervous system physiology	763	CA5A	OMIM:615751
HP:0012638	Abnormal nervous system physiology	1355	COX15	OMIM:615119
HP:0012638	Abnormal nervous system physiology	4695	NDUFA2	OMIM:618235
HP:0012638	Abnormal nervous system physiology	6536	SLC6A9	OMIM:617301
HP:0012638	Abnormal nervous system physiology	4511	MT-TC	OMIM:540000
HP:0012638	Abnormal nervous system physiology	2859	GPR35	ORPHA:171
HP:0012638	Abnormal nervous system physiology	10507	SEMA4D	ORPHA:171
HP:0012638	Abnormal nervous system physiology	4485	MST1	ORPHA:171
HP:0012638	Abnormal nervous system physiology	2898	GRIK2	OMIM:619580
HP:0012638	Abnormal nervous system physiology	2562	GABRB3	ORPHA:2382
HP:0012638	Abnormal nervous system physiology	5602	MAPK10	ORPHA:2382
HP:0012638	Abnormal nervous system physiology	23316	CUX2	ORPHA:2382
HP:0012638	Abnormal nervous system physiology	1106	CHD2	ORPHA:2382
HP:0012638	Abnormal nervous system physiology	25930	PTPN23	OMIM:618890
HP:0012638	Abnormal nervous system physiology	28976	ACAD9	ORPHA:99901
HP:0012638	Abnormal nervous system physiology	28976	ACAD9	OMIM:611126
HP:0012638	Abnormal nervous system physiology	51241	COX16	OMIM:619355
HP:0012638	Abnormal nervous system physiology	90624	LYRM7	OMIM:615838
HP:0012638	Abnormal nervous system physiology	6050	RNH1	OMIM:620461
HP:0012638	Abnormal nervous system physiology	7284	TUFM	OMIM:610678
HP:0012638	Abnormal nervous system physiology	1537	CYC1	OMIM:615453
HP:0012638	Abnormal nervous system physiology	7040	TGFB1	OMIM:618213
HP:0012638	Abnormal nervous system physiology	84274	COQ5	OMIM:619028
HP:0012638	Abnormal nervous system physiology	87178	PNPT1	OMIM:614932
HP:0012638	Abnormal nervous system physiology	8942	KYNU	ORPHA:79155
HP:0012638	Abnormal nervous system physiology	6584	SLC22A5	OMIM:212140
HP:0012638	Abnormal nervous system physiology	4353	MPO	OMIM:104300
HP:0012638	Abnormal nervous system physiology	5328	PLAU	OMIM:104300
HP:0012638	Abnormal nervous system physiology	6620	SNCB	OMIM:127750
HP:0012638	Abnormal nervous system physiology	847	CAT	ORPHA:926
HP:0012638	Abnormal nervous system physiology	340075	ARSI	ORPHA:401815
HP:0012638	Abnormal nervous system physiology	6607	SMN2	OMIM:253400
HP:0012638	Abnormal nervous system physiology	80199	FUZ	ORPHA:3027
HP:0012638	Abnormal nervous system physiology	2110	ETFDH	OMIM:231680
HP:0012638	Abnormal nervous system physiology	2108	ETFA	OMIM:231680
HP:0012638	Abnormal nervous system physiology	2109	ETFB	OMIM:231680
HP:0012638	Abnormal nervous system physiology	6228	RPS23	OMIM:617412
HP:0012638	Abnormal nervous system physiology	79783	SUGCT	ORPHA:35706
HP:0012638	Abnormal nervous system physiology	641	BLM	OMIM:210900
HP:0012638	Abnormal nervous system physiology	9725	TMEM63A	OMIM:618688
HP:0012638	Abnormal nervous system physiology	5587	PRKD1	OMIM:617364
HP:0012638	Abnormal nervous system physiology	7068	THRB	ORPHA:566243
HP:0012638	Abnormal nervous system physiology	9948	WDR1	OMIM:150550
HP:0012638	Abnormal nervous system physiology	6729	SRP54	OMIM:260400
HP:0012638	Abnormal nervous system physiology	7012	TERC	OMIM:127550
HP:0012638	Abnormal nervous system physiology	4052	LTBP1	OMIM:619451
HP:0012638	Abnormal nervous system physiology	8091	HMGA2	ORPHA:94063
HP:0012638	Abnormal nervous system physiology	23592	LEMD3	ORPHA:94063
HP:0012638	Abnormal nervous system physiology	4990	SIX6	OMIM:206900
HP:0012638	Abnormal nervous system physiology	91039	DPP9	OMIM:620331
HP:0012638	Abnormal nervous system physiology	2887	GRB10	ORPHA:96182
HP:0012638	Abnormal nervous system physiology	60676	PAPPA2	OMIM:619489
HP:0012638	Abnormal nervous system physiology	5286	PIK3C2A	ORPHA:557003
HP:0012638	Abnormal nervous system physiology	51109	RDH11	ORPHA:436245
HP:0012638	Abnormal nervous system physiology	9231	DLG5	OMIM:620703
HP:0012638	Abnormal nervous system physiology	57156	TMEM63C	OMIM:619966
HP:0012638	Abnormal nervous system physiology	170825	GSX2	OMIM:618646
HP:0012638	Abnormal nervous system physiology	79991	STN1	OMIM:617341
HP:0012638	Abnormal nervous system physiology	85300	ATCAY	OMIM:601238
HP:0012638	Abnormal nervous system physiology	1892	ECHS1	OMIM:616277
HP:0012638	Abnormal nervous system physiology	51728	POLR3K	OMIM:619310
HP:0012638	Abnormal nervous system physiology	56521	DNAJC12	OMIM:617384
HP:0012638	Abnormal nervous system physiology	55967	NDUFA12	OMIM:618244
HP:0012638	Abnormal nervous system physiology	2571	GAD1	OMIM:619124
HP:0012638	Abnormal nervous system physiology	4329	ALDH6A1	OMIM:614105
HP:0012638	Abnormal nervous system physiology	55149	MTPAP	ORPHA:254343
HP:0012638	Abnormal nervous system physiology	8996	NOL3	OMIM:614937
HP:0012638	Abnormal nervous system physiology	389421	LIN28B	ORPHA:635
HP:0012638	Abnormal nervous system physiology	4004	LMO1	ORPHA:635
HP:0012638	Abnormal nervous system physiology	388662	SLC6A17	OMIM:616269
HP:0012638	Abnormal nervous system physiology	11093	ADAMTS13	OMIM:274150
HP:0012638	Abnormal nervous system physiology	119559	SFXN4	OMIM:615578
HP:0012638	Abnormal nervous system physiology	2660	MSTN	OMIM:614160
HP:0012638	Abnormal nervous system physiology	9377	COX5A	OMIM:619064
HP:0012638	Abnormal nervous system physiology	91461	PKDCC	OMIM:618821
HP:0012638	Abnormal nervous system physiology	7125	TNNC2	OMIM:620161
HP:0012638	Abnormal nervous system physiology	10651	MTX2	OMIM:619127
HP:0012638	Abnormal nervous system physiology	7486	WRN	OMIM:277700
HP:0012638	Abnormal nervous system physiology	4193	MDM2	OMIM:618681
HP:0012638	Abnormal nervous system physiology	284086	NEK8	OMIM:620903
HP:0012638	Abnormal nervous system physiology	284086	NEK8	OMIM:613824
HP:0012638	Abnormal nervous system physiology	9071	CLDN10	OMIM:617671
HP:0012638	Abnormal nervous system physiology	5078	PAX4	OMIM:612225
HP:0012638	Abnormal nervous system physiology	3291	HSD11B2	ORPHA:320
HP:0012638	Abnormal nervous system physiology	3569	IL6	OMIM:222100
HP:0012638	Abnormal nervous system physiology	254428	SLC41A1	OMIM:619468
HP:0012638	Abnormal nervous system physiology	9860	LRIG2	ORPHA:2704
HP:0012638	Abnormal nervous system physiology	60495	HPSE2	ORPHA:2704
HP:0012638	Abnormal nervous system physiology	6524	SLC5A2	OMIM:233100
HP:0012638	Abnormal nervous system physiology	2673	GFPT1	OMIM:608931
HP:0012638	Abnormal nervous system physiology	1410	CRYAB	OMIM:608810
HP:0012638	Abnormal nervous system physiology	1410	CRYAB	ORPHA:399058
HP:0012638	Abnormal nervous system physiology	4287	ATXN3	OMIM:109150
HP:0012638	Abnormal nervous system physiology	4287	ATXN3	OMIM:168600
HP:0012638	Abnormal nervous system physiology	4287	ATXN3	ORPHA:276238
HP:0012638	Abnormal nervous system physiology	4287	ATXN3	ORPHA:276244
HP:0012638	Abnormal nervous system physiology	4287	ATXN3	ORPHA:276241
HP:0012638	Abnormal nervous system physiology	8106	PABPN1	ORPHA:270
HP:0012638	Abnormal nervous system physiology	8106	PABPN1	OMIM:164300
HP:0012638	Abnormal nervous system physiology	1144	CHRND	OMIM:616321
HP:0012638	Abnormal nervous system physiology	1144	CHRND	OMIM:616323
HP:0012638	Abnormal nervous system physiology	4750	NEK1	OMIM:617892
HP:0012638	Abnormal nervous system physiology	4750	NEK1	ORPHA:803
HP:0012638	Abnormal nervous system physiology	23446	SLC44A1	OMIM:618868
HP:0012638	Abnormal nervous system physiology	4593	MUSK	OMIM:616325
HP:0012638	Abnormal nervous system physiology	57679	ALS2	ORPHA:247604
HP:0012638	Abnormal nervous system physiology	57679	ALS2	OMIM:205100
HP:0012638	Abnormal nervous system physiology	57679	ALS2	ORPHA:300605
HP:0012638	Abnormal nervous system physiology	57679	ALS2	OMIM:607225
HP:0012638	Abnormal nervous system physiology	57679	ALS2	OMIM:606353
HP:0012638	Abnormal nervous system physiology	9499	MYOT	ORPHA:266
HP:0012638	Abnormal nervous system physiology	5339	PLEC	ORPHA:254361
HP:0012638	Abnormal nervous system physiology	6687	SPG7	ORPHA:99013
HP:0012638	Abnormal nervous system physiology	6687	SPG7	OMIM:607259
HP:0012638	Abnormal nervous system physiology	6687	SPG7	ORPHA:35689
HP:0012638	Abnormal nervous system physiology	8291	DYSF	ORPHA:268
HP:0012638	Abnormal nervous system physiology	4312	MMP1	ORPHA:79408
HP:0012638	Abnormal nervous system physiology	1294	COL7A1	ORPHA:79408
HP:0012638	Abnormal nervous system physiology	1294	COL7A1	OMIM:226600
HP:0012638	Abnormal nervous system physiology	1294	COL7A1	ORPHA:89842
HP:0012638	Abnormal nervous system physiology	79577	CDC73	ORPHA:143
HP:0012638	Abnormal nervous system physiology	79577	CDC73	ORPHA:99880
HP:0012638	Abnormal nervous system physiology	10528	NOP56	OMIM:614153
HP:0012638	Abnormal nervous system physiology	10528	NOP56	ORPHA:276198
HP:0012638	Abnormal nervous system physiology	101060691	NUTM2B-AS1	OMIM:618637
HP:0012638	Abnormal nervous system physiology	9723	SEMA3E	ORPHA:138
HP:0012638	Abnormal nervous system physiology	1890	TYMP	ORPHA:298
HP:0012638	Abnormal nervous system physiology	1890	TYMP	OMIM:603041
HP:0012638	Abnormal nervous system physiology	3980	LIG3	ORPHA:298
HP:0012638	Abnormal nervous system physiology	3980	LIG3	OMIM:619780
HP:0012638	Abnormal nervous system physiology	8575	PRKRA	ORPHA:210571
HP:0012638	Abnormal nervous system physiology	8575	PRKRA	OMIM:612067
HP:0012638	Abnormal nervous system physiology	10939	AFG3L2	ORPHA:313772
HP:0012638	Abnormal nervous system physiology	10939	AFG3L2	OMIM:614487
HP:0012638	Abnormal nervous system physiology	4620	MYH2	OMIM:605637
HP:0012638	Abnormal nervous system physiology	857	CAV1	OMIM:606721
HP:0012638	Abnormal nervous system physiology	857	CAV1	ORPHA:220402
HP:0012638	Abnormal nervous system physiology	857	CAV1	ORPHA:220393
HP:0012638	Abnormal nervous system physiology	10935	PRDX3	OMIM:619862
HP:0012638	Abnormal nervous system physiology	246243	RNASEH1	OMIM:616479
HP:0012638	Abnormal nervous system physiology	246243	RNASEH1	ORPHA:329336
HP:0012638	Abnormal nervous system physiology	950	SCARB2	OMIM:254900
HP:0012638	Abnormal nervous system physiology	9897	WASHC5	OMIM:603563
HP:0012638	Abnormal nervous system physiology	8622	PDE8B	ORPHA:228169
HP:0012638	Abnormal nervous system physiology	3572	IL6ST	OMIM:619751
HP:0012638	Abnormal nervous system physiology	23259	DDHD2	OMIM:615033
HP:0012638	Abnormal nervous system physiology	23259	DDHD2	ORPHA:320380
HP:0012638	Abnormal nervous system physiology	54902	TTC19	OMIM:615157
HP:0012638	Abnormal nervous system physiology	1180	CLCN1	OMIM:255700
HP:0012638	Abnormal nervous system physiology	1180	CLCN1	ORPHA:614
HP:0012638	Abnormal nervous system physiology	93986	FOXP2	ORPHA:251061
HP:0012638	Abnormal nervous system physiology	4076	CAPRIN1	OMIM:620636
HP:0012638	Abnormal nervous system physiology	10342	TFG	ORPHA:90117
HP:0012638	Abnormal nervous system physiology	4626	MYH8	OMIM:158300
HP:0012638	Abnormal nervous system physiology	55612	FERMT1	ORPHA:2908
HP:0012638	Abnormal nervous system physiology	55612	FERMT1	OMIM:173650
HP:0012638	Abnormal nervous system physiology	4123	MAN2C1	OMIM:619775
HP:0012638	Abnormal nervous system physiology	3798	KIF5A	OMIM:617235
HP:0012638	Abnormal nervous system physiology	339855	KY	OMIM:617114
HP:0012638	Abnormal nervous system physiology	339855	KY	ORPHA:496689
HP:0012638	Abnormal nervous system physiology	79977	GRHL2	OMIM:616029
HP:0012638	Abnormal nervous system physiology	6240	RRM1	OMIM:620647
HP:0012638	Abnormal nervous system physiology	5837	PYGM	ORPHA:368
HP:0012638	Abnormal nervous system physiology	2512	FTL	ORPHA:157846
HP:0012638	Abnormal nervous system physiology	2512	FTL	OMIM:606159
HP:0012638	Abnormal nervous system physiology	5081	PAX7	OMIM:618578
HP:0012638	Abnormal nervous system physiology	4487	MSX1	ORPHA:141291
HP:0012638	Abnormal nervous system physiology	8626	TP63	ORPHA:141291
HP:0012638	Abnormal nervous system physiology	3664	IRF6	ORPHA:141291
HP:0012638	Abnormal nervous system physiology	353116	RILPL1	OMIM:619790
HP:0012638	Abnormal nervous system physiology	23111	SPART	OMIM:275900
HP:0012638	Abnormal nervous system physiology	23111	SPART	ORPHA:101000
HP:0012638	Abnormal nervous system physiology	4137	MAPT	OMIM:601104
HP:0012638	Abnormal nervous system physiology	4137	MAPT	ORPHA:240112
HP:0012638	Abnormal nervous system physiology	4137	MAPT	ORPHA:240103
HP:0012638	Abnormal nervous system physiology	4137	MAPT	OMIM:168600
HP:0012638	Abnormal nervous system physiology	56896	DPYSL5	OMIM:619435
HP:0012638	Abnormal nervous system physiology	54892	NCAPG2	OMIM:618460
HP:0012638	Abnormal nervous system physiology	53371	NUP54	OMIM:620427
HP:0012638	Abnormal nervous system physiology	53371	NUP54	ORPHA:225154
HP:0012638	Abnormal nervous system physiology	79912	PYROXD1	OMIM:617258
HP:0012638	Abnormal nervous system physiology	1235	CCR6	ORPHA:220402
HP:0012638	Abnormal nervous system physiology	1235	CCR6	ORPHA:220393
HP:0012638	Abnormal nervous system physiology	1490	CCN2	ORPHA:220402
HP:0012638	Abnormal nervous system physiology	1490	CCN2	ORPHA:220393
HP:0012638	Abnormal nervous system physiology	81790	RNF170	OMIM:619686
HP:0012638	Abnormal nervous system physiology	84909	AOPEP	OMIM:619565
HP:0012638	Abnormal nervous system physiology	710	SERPING1	ORPHA:100050
HP:0012638	Abnormal nervous system physiology	1760	DMPK	OMIM:160900
HP:0012638	Abnormal nervous system physiology	1760	DMPK	ORPHA:589821
HP:0012638	Abnormal nervous system physiology	387119	CEP85L	ORPHA:572013
HP:0012638	Abnormal nervous system physiology	5980	REV3L	ORPHA:570
HP:0012638	Abnormal nervous system physiology	23129	PLXND1	ORPHA:570
HP:0012638	Abnormal nervous system physiology	65055	REEP1	ORPHA:101011
HP:0012638	Abnormal nervous system physiology	65055	REEP1	OMIM:610250
HP:0012638	Abnormal nervous system physiology	56915	EXOSC5	OMIM:619576
HP:0012638	Abnormal nervous system physiology	51132	RLIM	OMIM:300978
HP:0012638	Abnormal nervous system physiology	4704	NDUFA9	OMIM:618247
HP:0012638	Abnormal nervous system physiology	29978	UBQLN2	OMIM:300857
HP:0012638	Abnormal nervous system physiology	29978	UBQLN2	ORPHA:803
HP:0012638	Abnormal nervous system physiology	182	JAG1	OMIM:619574
HP:0012638	Abnormal nervous system physiology	54834	GDAP2	OMIM:618369
HP:0012638	Abnormal nervous system physiology	2131	EXT1	ORPHA:321
HP:0012638	Abnormal nervous system physiology	6329	SCN4A	ORPHA:684
HP:0012638	Abnormal nervous system physiology	6329	SCN4A	ORPHA:99735
HP:0012638	Abnormal nervous system physiology	6329	SCN4A	ORPHA:99736
HP:0012638	Abnormal nervous system physiology	51102	MECR	OMIM:617282
HP:0012638	Abnormal nervous system physiology	51102	MECR	ORPHA:508093
HP:0012638	Abnormal nervous system physiology	51324	SPG21	ORPHA:101001
HP:0012638	Abnormal nervous system physiology	51324	SPG21	OMIM:248900
HP:0012638	Abnormal nervous system physiology	146206	CARMIL2	OMIM:618131
HP:0012638	Abnormal nervous system physiology	2705	GJB1	OMIM:302800
HP:0012638	Abnormal nervous system physiology	51305	KCNK9	ORPHA:166108
HP:0012638	Abnormal nervous system physiology	51305	KCNK9	OMIM:612292
HP:0012638	Abnormal nervous system physiology	29967	LRP12	OMIM:620452
HP:0012638	Abnormal nervous system physiology	29967	LRP12	OMIM:164310
HP:0012638	Abnormal nervous system physiology	4629	MYH11	OMIM:619350
HP:0012638	Abnormal nervous system physiology	9757	KMT2B	ORPHA:589618
HP:0012638	Abnormal nervous system physiology	55975	KLHL7	OMIM:617055
HP:0012638	Abnormal nervous system physiology	55697	VAC14	OMIM:617054
HP:0012638	Abnormal nervous system physiology	10526	IPO8	OMIM:619472
HP:0012638	Abnormal nervous system physiology	2318	FLNC	ORPHA:63273
HP:0012638	Abnormal nervous system physiology	7345	UCHL1	OMIM:620221
HP:0012638	Abnormal nervous system physiology	3181	HNRNPA2B1	OMIM:620460
HP:0012638	Abnormal nervous system physiology	23636	NUP62	ORPHA:225154
HP:0012638	Abnormal nervous system physiology	23636	NUP62	OMIM:271930
HP:0012638	Abnormal nervous system physiology	72	ACTG2	OMIM:155310
HP:0012638	Abnormal nervous system physiology	5156	PDGFRA	ORPHA:44890
HP:0012638	Abnormal nervous system physiology	3815	KIT	ORPHA:44890
HP:0012638	Abnormal nervous system physiology	3815	KIT	OMIM:606764
HP:0012638	Abnormal nervous system physiology	1984	EIF5A	OMIM:619376
HP:0012638	Abnormal nervous system physiology	79651	RHBDF2	ORPHA:2198
HP:0012638	Abnormal nervous system physiology	5216	PFN1	OMIM:614808
HP:0012638	Abnormal nervous system physiology	5216	PFN1	ORPHA:803
HP:0012638	Abnormal nervous system physiology	1678	TIMM8A	ORPHA:52368
HP:0012638	Abnormal nervous system physiology	1678	TIMM8A	OMIM:304700
HP:0012638	Abnormal nervous system physiology	4914	NTRK1	ORPHA:642
HP:0012638	Abnormal nervous system physiology	64432	MRPS25	OMIM:619025
HP:0012638	Abnormal nervous system physiology	132001	TAMM41	OMIM:620139
HP:0012638	Abnormal nervous system physiology	126	ADH1C	OMIM:168600
HP:0012638	Abnormal nervous system physiology	9627	SNCAIP	OMIM:168600
HP:0012638	Abnormal nervous system physiology	6311	ATXN2	OMIM:168600
HP:0012638	Abnormal nervous system physiology	6311	ATXN2	OMIM:183090
HP:0012638	Abnormal nervous system physiology	6311	ATXN2	ORPHA:803
HP:0012638	Abnormal nervous system physiology	6315	ATXN8OS	OMIM:168600
HP:0012638	Abnormal nervous system physiology	6315	ATXN8OS	ORPHA:98760
HP:0012638	Abnormal nervous system physiology	6315	ATXN8OS	OMIM:608768
HP:0012638	Abnormal nervous system physiology	6622	SNCA	OMIM:168601
HP:0012638	Abnormal nervous system physiology	6622	SNCA	ORPHA:171695
HP:0012638	Abnormal nervous system physiology	6622	SNCA	ORPHA:411602
HP:0012638	Abnormal nervous system physiology	3156	HMGCR	OMIM:620375
HP:0012638	Abnormal nervous system physiology	5605	MAP2K2	ORPHA:638
HP:0012638	Abnormal nervous system physiology	80308	FLAD1	OMIM:255100
HP:0012638	Abnormal nervous system physiology	7138	TNNT1	OMIM:620389
HP:0012638	Abnormal nervous system physiology	5111	PCNA	OMIM:615919
HP:0012638	Abnormal nervous system physiology	4281	MID1	OMIM:300000
HP:0012638	Abnormal nervous system physiology	4281	MID1	ORPHA:2745
HP:0012638	Abnormal nervous system physiology	10324	KLHL41	ORPHA:171433
HP:0012638	Abnormal nervous system physiology	10324	KLHL41	ORPHA:171430
HP:0012638	Abnormal nervous system physiology	131377	KLHL40	ORPHA:171430
HP:0012638	Abnormal nervous system physiology	131377	KLHL40	OMIM:615348
HP:0012638	Abnormal nervous system physiology	4842	NOS1	ORPHA:930
HP:0012638	Abnormal nervous system physiology	7298	TYMS	OMIM:620040
HP:0012638	Abnormal nervous system physiology	729359	PLIN4	OMIM:601846
HP:0012638	Abnormal nervous system physiology	146862	UNC45B	OMIM:619178
HP:0012638	Abnormal nervous system physiology	5119	CHMP1A	OMIM:614961
HP:0012638	Abnormal nervous system physiology	7555	CNBP	ORPHA:606
HP:0012638	Abnormal nervous system physiology	9570	GOSR2	OMIM:620166
HP:0012638	Abnormal nervous system physiology	4151	MB	OMIM:620286
HP:0012638	Abnormal nervous system physiology	26278	SACS	ORPHA:98
HP:0012638	Abnormal nervous system physiology	57190	SELENON	ORPHA:2020
HP:0012638	Abnormal nervous system physiology	4633	MYL2	ORPHA:2020
HP:0012638	Abnormal nervous system physiology	3679	ITGA7	ORPHA:2020
HP:0012638	Abnormal nervous system physiology	9200	HACD1	ORPHA:2020
HP:0012638	Abnormal nervous system physiology	51776	MAP3K20	ORPHA:2020
HP:0012638	Abnormal nervous system physiology	7156	TOP3A	OMIM:618098
HP:0012638	Abnormal nervous system physiology	1600	DAB1	OMIM:615945
HP:0012638	Abnormal nervous system physiology	2395	FXN	ORPHA:95
HP:0012638	Abnormal nervous system physiology	5251	PHEX	ORPHA:89936
HP:0012638	Abnormal nervous system physiology	23533	PIK3R5	ORPHA:64753
HP:0012638	Abnormal nervous system physiology	23064	SETX	ORPHA:64753
HP:0012638	Abnormal nervous system physiology	23064	SETX	OMIM:606002
HP:0012638	Abnormal nervous system physiology	3211	HOXB1	OMIM:614744
HP:0012638	Abnormal nervous system physiology	146057	TTBK2	ORPHA:98767
HP:0012638	Abnormal nervous system physiology	92667	MGME1	ORPHA:352447
HP:0012638	Abnormal nervous system physiology	6558	SLC12A2	OMIM:619083
HP:0012638	Abnormal nervous system physiology	724066	ATXN8	ORPHA:98760
HP:0012638	Abnormal nervous system physiology	724066	ATXN8	OMIM:608768
HP:0012638	Abnormal nervous system physiology	492	ATP2B3	OMIM:302500
HP:0012638	Abnormal nervous system physiology	3208	HPCA	OMIM:224500
HP:0012638	Abnormal nervous system physiology	10280	SIGMAR1	ORPHA:300605
HP:0012638	Abnormal nervous system physiology	10558	SPTLC1	ORPHA:300605
HP:0012638	Abnormal nervous system physiology	6774	STAT3	OMIM:147060
HP:0012638	Abnormal nervous system physiology	255928	SYT14	ORPHA:284271
HP:0012638	Abnormal nervous system physiology	255928	SYT14	OMIM:614229
HP:0012638	Abnormal nervous system physiology	10133	OPTN	OMIM:613435
HP:0012638	Abnormal nervous system physiology	10133	OPTN	ORPHA:803
HP:0012638	Abnormal nervous system physiology	85021	REPS1	OMIM:617916
HP:0012638	Abnormal nervous system physiology	3752	KCND3	OMIM:607346
HP:0012638	Abnormal nervous system physiology	25978	CHMP2B	ORPHA:803
HP:0012638	Abnormal nervous system physiology	3178	HNRNPA1	ORPHA:803
HP:0012638	Abnormal nervous system physiology	8148	TAF15	ORPHA:803
HP:0012638	Abnormal nervous system physiology	5445	PON2	ORPHA:803
HP:0012638	Abnormal nervous system physiology	9217	VAPB	ORPHA:803
HP:0012638	Abnormal nervous system physiology	9217	VAPB	OMIM:608627
HP:0012638	Abnormal nervous system physiology	5630	PRPH	ORPHA:803
HP:0012638	Abnormal nervous system physiology	5630	PRPH	OMIM:105400
HP:0012638	Abnormal nervous system physiology	55830	GLT8D1	ORPHA:803
HP:0012638	Abnormal nervous system physiology	755	CFAP410	ORPHA:803
HP:0012638	Abnormal nervous system physiology	10891	PPARGC1A	ORPHA:803
HP:0012638	Abnormal nervous system physiology	6647	SOD1	ORPHA:803
HP:0012638	Abnormal nervous system physiology	6647	SOD1	OMIM:105400
HP:0012638	Abnormal nervous system physiology	1639	DCTN1	ORPHA:803
HP:0012638	Abnormal nervous system physiology	1639	DCTN1	OMIM:105400
HP:0012638	Abnormal nervous system physiology	5444	PON1	ORPHA:803
HP:0012638	Abnormal nervous system physiology	5446	PON3	ORPHA:803
HP:0012638	Abnormal nervous system physiology	4744	NEFH	ORPHA:803
HP:0012638	Abnormal nervous system physiology	4744	NEFH	OMIM:105400
HP:0012638	Abnormal nervous system physiology	283	ANG	ORPHA:803
HP:0012638	Abnormal nervous system physiology	1610	DAO	ORPHA:803
HP:0012638	Abnormal nervous system physiology	2066	ERBB4	ORPHA:803
HP:0012638	Abnormal nervous system physiology	311	ANXA11	ORPHA:803
HP:0012638	Abnormal nervous system physiology	311	ANXA11	OMIM:617839
HP:0012638	Abnormal nervous system physiology	23025	UNC13A	ORPHA:803
HP:0012638	Abnormal nervous system physiology	899	CCNF	ORPHA:803
HP:0012638	Abnormal nervous system physiology	6314	ATXN7	ORPHA:94147
HP:0012638	Abnormal nervous system physiology	6314	ATXN7	OMIM:164500
HP:0012638	Abnormal nervous system physiology	25793	FBXO7	ORPHA:171695
HP:0012638	Abnormal nervous system physiology	51067	YARS2	OMIM:613561
HP:0012638	Abnormal nervous system physiology	284119	CAVIN1	OMIM:613327
HP:0012638	Abnormal nervous system physiology	23534	TNPO3	OMIM:608423
HP:0012638	Abnormal nervous system physiology	1861	TOR1A	OMIM:128100
HP:0012638	Abnormal nervous system physiology	1288	COL4A6	ORPHA:1018
HP:0012638	Abnormal nervous system physiology	1287	COL4A5	ORPHA:1018
HP:0012638	Abnormal nervous system physiology	2982	GUCY1A1	OMIM:615750
HP:0012638	Abnormal nervous system physiology	9420	CYP7B1	ORPHA:100986
HP:0012638	Abnormal nervous system physiology	29926	GMPPA	OMIM:615510
HP:0012638	Abnormal nervous system physiology	54832	VPS13C	OMIM:616840
HP:0012638	Abnormal nervous system physiology	57704	GBA2	ORPHA:352641
HP:0012638	Abnormal nervous system physiology	79587	CARS2	ORPHA:477774
HP:0012638	Abnormal nervous system physiology	10320	IKZF1	ORPHA:36426
HP:0012638	Abnormal nervous system physiology	25953	PNKD	OMIM:118800
HP:0012638	Abnormal nervous system physiology	23317	DNAJC13	ORPHA:411602
HP:0012638	Abnormal nervous system physiology	1981	EIF4G1	ORPHA:411602
HP:0012638	Abnormal nervous system physiology	55737	VPS35	ORPHA:411602
HP:0012638	Abnormal nervous system physiology	120892	LRRK2	ORPHA:411602
HP:0012638	Abnormal nervous system physiology	26058	GIGYF2	ORPHA:411602
HP:0012638	Abnormal nervous system physiology	51008	ASCC1	OMIM:616867
HP:0012638	Abnormal nervous system physiology	9325	TRIP4	OMIM:616866
HP:0012638	Abnormal nervous system physiology	7849	PAX8	ORPHA:95712
HP:0012638	Abnormal nervous system physiology	1482	NKX2-5	ORPHA:95712
HP:0012638	Abnormal nervous system physiology	5582	PRKCG	OMIM:605361
HP:0012638	Abnormal nervous system physiology	3417	IDH1	ORPHA:163634
HP:0012638	Abnormal nervous system physiology	84617	TUBB6	OMIM:617732
HP:0012638	Abnormal nervous system physiology	122553	TRAPPC6B	OMIM:617862
HP:0012638	Abnormal nervous system physiology	28957	MRPS28	OMIM:618958
HP:0012638	Abnormal nervous system physiology	8292	COLQ	ORPHA:98915
HP:0012638	Abnormal nervous system physiology	8292	COLQ	OMIM:603034
HP:0012638	Abnormal nervous system physiology	3913	LAMB2	ORPHA:98915
HP:0012638	Abnormal nervous system physiology	22943	DKK1	ORPHA:268882
HP:0012638	Abnormal nervous system physiology	7515	XRCC1	OMIM:617633
HP:0012638	Abnormal nervous system physiology	4359	MPZ	OMIM:607736
HP:0012638	Abnormal nervous system physiology	4747	NEFL	OMIM:607734
HP:0012638	Abnormal nervous system physiology	861	RUNX1	ORPHA:98850
HP:0012638	Abnormal nervous system physiology	5774	PTPN3	ORPHA:70567
HP:0012638	Abnormal nervous system physiology	6098	ROS1	ORPHA:70567
HP:0012638	Abnormal nervous system physiology	915	CD3D	ORPHA:169160
HP:0012638	Abnormal nervous system physiology	916	CD3E	ORPHA:169160
HP:0012638	Abnormal nervous system physiology	919	CD247	ORPHA:169160
HP:0012638	Abnormal nervous system physiology	285282	RABL3	ORPHA:1333
HP:0012638	Abnormal nervous system physiology	23022	PALLD	ORPHA:1333
HP:0012638	Abnormal nervous system physiology	3492	IGH	ORPHA:52416
HP:0012638	Abnormal nervous system physiology	6850	SYK	OMIM:619381
HP:0012638	Abnormal nervous system physiology	5371	PML	ORPHA:520
HP:0012638	Abnormal nervous system physiology	5914	RARA	ORPHA:520
HP:0012638	Abnormal nervous system physiology	359948	IRF2BP2	ORPHA:520
HP:0012638	Abnormal nervous system physiology	81608	FIP1L1	ORPHA:520
HP:0012638	Abnormal nervous system physiology	64859	NABP1	ORPHA:520
HP:0012638	Abnormal nervous system physiology	6777	STAT5B	ORPHA:520
HP:0012638	Abnormal nervous system physiology	4926	NUMA1	ORPHA:520
HP:0012638	Abnormal nervous system physiology	7704	ZBTB16	ORPHA:520
HP:0012638	Abnormal nervous system physiology	4261	CIITA	ORPHA:572
HP:0012638	Abnormal nervous system physiology	5993	RFX5	ORPHA:572
HP:0012638	Abnormal nervous system physiology	2196	FAT2	OMIM:617769
HP:0012638	Abnormal nervous system physiology	26011	TENM4	OMIM:616736
HP:0012638	Abnormal nervous system physiology	27102	EIF2AK1	OMIM:618878
HP:0012638	Abnormal nervous system physiology	2554	GABRA1	ORPHA:64280
HP:0012638	Abnormal nervous system physiology	8912	CACNA1H	ORPHA:64280
HP:0012638	Abnormal nervous system physiology	8629	JRK	ORPHA:64280
HP:0012638	Abnormal nervous system physiology	81555	YIPF5	OMIM:619278
HP:0012638	Abnormal nervous system physiology	785	CACNB4	OMIM:613855
HP:0012638	Abnormal nervous system physiology	785	CACNB4	OMIM:607682
HP:0012638	Abnormal nervous system physiology	2997	GYS1	OMIM:611556
HP:0012638	Abnormal nervous system physiology	55325	UFSP2	OMIM:620028
HP:0012638	Abnormal nervous system physiology	55733	HHAT	OMIM:600092
HP:0012638	Abnormal nervous system physiology	23236	PLCB1	ORPHA:293181
HP:0012638	Abnormal nervous system physiology	23236	PLCB1	OMIM:613722
HP:0012638	Abnormal nervous system physiology	57582	KCNT1	ORPHA:293181
HP:0012638	Abnormal nervous system physiology	57582	KCNT1	ORPHA:98784
HP:0012638	Abnormal nervous system physiology	154881	KCTD7	ORPHA:263516
HP:0012638	Abnormal nervous system physiology	24137	KIF4A	OMIM:300923
HP:0012638	Abnormal nervous system physiology	6487	ST3GAL3	OMIM:615006
HP:0012638	Abnormal nervous system physiology	10565	ARFGEF1	OMIM:619964
HP:0012638	Abnormal nervous system physiology	3781	KCNN2	OMIM:619725
HP:0012638	Abnormal nervous system physiology	1476	CSTB	OMIM:254800
HP:0012638	Abnormal nervous system physiology	64780	MICAL1	OMIM:600512
HP:0012638	Abnormal nervous system physiology	3899	AFF3	OMIM:619297
HP:0012638	Abnormal nervous system physiology	815	CAMK2A	OMIM:617798
HP:0012638	Abnormal nervous system physiology	80856	LNPK	OMIM:618090
HP:0012638	Abnormal nervous system physiology	10087	CERT1	OMIM:616351
HP:0012638	Abnormal nervous system physiology	10715	CERS1	OMIM:616230
HP:0012638	Abnormal nervous system physiology	283987	HID1	OMIM:619983
HP:0012638	Abnormal nervous system physiology	4697	NDUFA4	OMIM:619065
HP:0012638	Abnormal nervous system physiology	124512	METTL23	OMIM:615942
HP:0012638	Abnormal nervous system physiology	112755	STX1B	ORPHA:36387
HP:0012638	Abnormal nervous system physiology	112755	STX1B	OMIM:616172
HP:0012638	Abnormal nervous system physiology	2258	FGF13	ORPHA:36387
HP:0012638	Abnormal nervous system physiology	2258	FGF13	OMIM:301058
HP:0012638	Abnormal nervous system physiology	84059	ADGRV1	ORPHA:36387
HP:0012638	Abnormal nervous system physiology	84059	ADGRV1	OMIM:604352
HP:0012638	Abnormal nervous system physiology	610	HCN2	OMIM:602477
HP:0012638	Abnormal nervous system physiology	84138	SLC7A6OS	OMIM:619191
HP:0012638	Abnormal nervous system physiology	1182	CLCN3	OMIM:619512
HP:0012638	Abnormal nervous system physiology	9354	UBE4A	OMIM:619639
HP:0012638	Abnormal nervous system physiology	116115	ZNF526	OMIM:619877
HP:0012638	Abnormal nervous system physiology	7701	ZNF142	OMIM:618425
HP:0012638	Abnormal nervous system physiology	83475	DOHH	OMIM:620066
HP:0012638	Abnormal nervous system physiology	51611	DPH5	OMIM:620070
HP:0012638	Abnormal nervous system physiology	163175	LGI4	OMIM:617468
HP:0012638	Abnormal nervous system physiology	9772	TMEM94	OMIM:618316
HP:0012638	Abnormal nervous system physiology	2556	GABRA3	OMIM:301091
HP:0012638	Abnormal nervous system physiology	8218	CLTCL1	ORPHA:453510
HP:0012638	Abnormal nervous system physiology	85440	DOCK7	OMIM:615859
HP:0012638	Abnormal nervous system physiology	114327	EFHC1	ORPHA:1941
HP:0012638	Abnormal nervous system physiology	114327	EFHC1	OMIM:254770
HP:0012638	Abnormal nervous system physiology	2742	GLRA2	OMIM:301076
HP:0012638	Abnormal nervous system physiology	51645	PPIL1	OMIM:619301
HP:0012638	Abnormal nervous system physiology	51362	CDC40	OMIM:619302
HP:0012638	Abnormal nervous system physiology	27133	KCNH5	OMIM:620537
HP:0012638	Abnormal nervous system physiology	22858	CILK1	OMIM:617924
HP:0012638	Abnormal nervous system physiology	57094	CPA6	OMIM:614417
HP:0012638	Abnormal nervous system physiology	57094	CPA6	OMIM:614418
HP:0012638	Abnormal nervous system physiology	9900	SV2A	OMIM:620772
HP:0012638	Abnormal nervous system physiology	57526	PCDH19	ORPHA:101039
HP:0012638	Abnormal nervous system physiology	57526	PCDH19	OMIM:300088
HP:0012638	Abnormal nervous system physiology	5515	PPP2CA	OMIM:618354
HP:0012638	Abnormal nervous system physiology	50	ACO2	OMIM:614559
HP:0012638	Abnormal nervous system physiology	6301	SARS1	OMIM:617709
HP:0012638	Abnormal nervous system physiology	3651	PDX1	ORPHA:99885
HP:0012638	Abnormal nervous system physiology	3630	INS	ORPHA:99885
HP:0012638	Abnormal nervous system physiology	2891	GRIA2	OMIM:618917
HP:0012638	Abnormal nervous system physiology	8869	ST3GAL5	OMIM:609056
HP:0012638	Abnormal nervous system physiology	3746	KCNC1	OMIM:616187
HP:0012638	Abnormal nervous system physiology	23229	ARHGEF9	OMIM:300607
HP:0012638	Abnormal nervous system physiology	3183	HNRNPC	OMIM:620688
HP:0012638	Abnormal nervous system physiology	51608	GET4	OMIM:620200
HP:0012638	Abnormal nervous system physiology	3431	SP110	ORPHA:79124
HP:0012638	Abnormal nervous system physiology	6821	SUOX	OMIM:272300
HP:0012638	Abnormal nervous system physiology	57010	CABP4	ORPHA:98784
HP:0012638	Abnormal nervous system physiology	1392	CRH	ORPHA:98784
HP:0012638	Abnormal nervous system physiology	23258	DENND5A	OMIM:617281
HP:0012638	Abnormal nervous system physiology	135	ADORA2A	ORPHA:363549
HP:0012638	Abnormal nervous system physiology	23152	CIC	OMIM:617600
HP:0012638	Abnormal nervous system physiology	208	AKT2	OMIM:240900
HP:0012638	Abnormal nervous system physiology	9256	TSPOAP1	OMIM:620453
HP:0012638	Abnormal nervous system physiology	60386	SLC25A19	ORPHA:99742
HP:0012638	Abnormal nervous system physiology	64864	RFX7	OMIM:620330
HP:0012638	Abnormal nervous system physiology	50801	KCNK4	OMIM:618381
HP:0012638	Abnormal nervous system physiology	10771	ZMYND11	OMIM:616083
HP:0012638	Abnormal nervous system physiology	8943	AP3D1	OMIM:617050
HP:0012638	Abnormal nervous system physiology	37	ACADVL	OMIM:201475
HP:0012638	Abnormal nervous system physiology	5281	PIGF	OMIM:619356
HP:0012638	Abnormal nervous system physiology	527	ATP6V0C	OMIM:620465
HP:0012638	Abnormal nervous system physiology	56910	STARD7	OMIM:607876
HP:0012638	Abnormal nervous system physiology	23067	SETD1B	OMIM:619000
HP:0012638	Abnormal nervous system physiology	10319	LAMC3	OMIM:614115
HP:0012638	Abnormal nervous system physiology	55704	CCDC88A	OMIM:617507
HP:0012638	Abnormal nervous system physiology	54676	GTPBP2	OMIM:617988
HP:0012638	Abnormal nervous system physiology	1284	COL4A2	OMIM:614483
HP:0012638	Abnormal nervous system physiology	8449	DHX16	OMIM:618733
HP:0012638	Abnormal nervous system physiology	55753	OGDHL	OMIM:619701
HP:0012638	Abnormal nervous system physiology	51601	LIPT1	OMIM:616299
HP:0012638	Abnormal nervous system physiology	339453	TMEM240	ORPHA:98773
HP:0012638	Abnormal nervous system physiology	339453	TMEM240	OMIM:607454
HP:0012638	Abnormal nervous system physiology	27089	UQCRQ	OMIM:615159
HP:0012638	Abnormal nervous system physiology	6804	STX1A	ORPHA:904
HP:0012638	Abnormal nervous system physiology	7461	CLIP2	ORPHA:904
HP:0012638	Abnormal nervous system physiology	8468	FKBP6	ORPHA:904
HP:0012638	Abnormal nervous system physiology	5982	RFC2	ORPHA:904
HP:0012638	Abnormal nervous system physiology	2969	GTF2I	ORPHA:904
HP:0012638	Abnormal nervous system physiology	3984	LIMK1	ORPHA:904
HP:0012638	Abnormal nervous system physiology	9569	GTF2IRD1	ORPHA:904
HP:0012638	Abnormal nervous system physiology	155382	VPS37D	ORPHA:904
HP:0012638	Abnormal nervous system physiology	155368	METTL27	ORPHA:904
HP:0012638	Abnormal nervous system physiology	114049	BUD23	ORPHA:904
HP:0012638	Abnormal nervous system physiology	7458	EIF4H	ORPHA:904
HP:0012638	Abnormal nervous system physiology	84163	GTF2IRD2	ORPHA:904
HP:0012638	Abnormal nervous system physiology	26608	TBL2	ORPHA:904
HP:0012638	Abnormal nervous system physiology	653361	NCF1	ORPHA:904
HP:0012638	Abnormal nervous system physiology	135886	TMEM270	ORPHA:904
HP:0012638	Abnormal nervous system physiology	9031	BAZ1B	ORPHA:904
HP:0012638	Abnormal nervous system physiology	2006	ELN	ORPHA:904
HP:0012638	Abnormal nervous system physiology	4286	MITF	ORPHA:618
HP:0012638	Abnormal nervous system physiology	1019	CDK4	ORPHA:618
HP:0012638	Abnormal nervous system physiology	4255	MGMT	ORPHA:618
HP:0012638	Abnormal nervous system physiology	54386	TERF2IP	ORPHA:618
HP:0012638	Abnormal nervous system physiology	4157	MC1R	ORPHA:618
HP:0012638	Abnormal nervous system physiology	65057	ACD	ORPHA:618
HP:0012638	Abnormal nervous system physiology	1029	CDKN2A	ORPHA:618
HP:0012638	Abnormal nervous system physiology	25913	POT1	ORPHA:618
HP:0012638	Abnormal nervous system physiology	80067	DCAF17	OMIM:241080
HP:0012638	Abnormal nervous system physiology	39	ACAT2	OMIM:614055
HP:0012638	Abnormal nervous system physiology	5700	PSMC1	OMIM:620071
HP:0012638	Abnormal nervous system physiology	11338	U2AF2	OMIM:620535
HP:0012638	Abnormal nervous system physiology	3350	HTR1A	OMIM:614674
HP:0012638	Abnormal nervous system physiology	11145	PLAAT3	OMIM:620683
HP:0012638	Abnormal nervous system physiology	92949	ADAMTSL1	ORPHA:521445
HP:0012638	Abnormal nervous system physiology	80216	ALPK1	OMIM:614979
HP:0012638	Abnormal nervous system physiology	1512	CTSH	ORPHA:2073
HP:0012638	Abnormal nervous system physiology	5032	P2RY11	ORPHA:2073
HP:0012638	Abnormal nervous system physiology	4340	MOG	ORPHA:2073
HP:0012638	Abnormal nervous system physiology	3060	HCRT	ORPHA:2073
HP:0012638	Abnormal nervous system physiology	22891	ZNF365	ORPHA:2073
HP:0012638	Abnormal nervous system physiology	54148	MRPL39	OMIM:620646
HP:0012638	Abnormal nervous system physiology	2624	GATA2	ORPHA:228423
HP:0012638	Abnormal nervous system physiology	1453	CSNK1D	OMIM:615224
HP:0012638	Abnormal nervous system physiology	1909	EDNRA	OMIM:157300
HP:0012638	Abnormal nervous system physiology	2099	ESR1	OMIM:157300
HP:0012638	Abnormal nervous system physiology	7124	TNF	OMIM:157300
HP:0012638	Abnormal nervous system physiology	338567	KCNK18	OMIM:613656
HP:0012638	Abnormal nervous system physiology	221496	LEMD2	OMIM:619322
HP:0012638	Abnormal nervous system physiology	4791	NFKB2	ORPHA:293978
HP:0012638	Abnormal nervous system physiology	54344	DPM3	OMIM:618992
HP:0012638	Abnormal nervous system physiology	1719	DHFR	OMIM:613839
HP:0012638	Abnormal nervous system physiology	93183	PIGM	OMIM:610293
HP:0012638	Abnormal nervous system physiology	64801	ARV1	OMIM:617020
HP:0012638	Abnormal nervous system physiology	5859	QARS1	OMIM:615760
HP:0012638	Abnormal nervous system physiology	1352	COX10	OMIM:619046
HP:0012638	Abnormal nervous system physiology	1889	ECE1	OMIM:613870
HP:0012638	Abnormal nervous system physiology	2271	FH	OMIM:606812
HP:0012638	Abnormal nervous system physiology	777	CACNA1E	OMIM:618285
HP:0012638	Abnormal nervous system physiology	738	VPS51	OMIM:618606
HP:0012638	Abnormal nervous system physiology	78987	CRELD1	OMIM:620771
HP:0012638	Abnormal nervous system physiology	6445	SGCG	ORPHA:353
HP:0012638	Abnormal nervous system physiology	1298	COL9A2	OMIM:600204
HP:0012638	Abnormal nervous system physiology	7277	TUBA4A	OMIM:616208
HP:0012638	Abnormal nervous system physiology	6916	TBXAS1	ORPHA:1802
HP:0012638	Abnormal nervous system physiology	89874	SLC25A21	OMIM:618811
HP:0012638	Abnormal nervous system physiology	10060	ABCC9	OMIM:619719
HP:0012638	Abnormal nervous system physiology	7222	TRPC3	OMIM:616410
HP:0012638	Abnormal nervous system physiology	7222	TRPC3	ORPHA:458798
HP:0012638	Abnormal nervous system physiology	4081	MAB21L1	ORPHA:495875
HP:0012638	Abnormal nervous system physiology	5443	POMC	OMIM:609734
HP:0012638	Abnormal nervous system physiology	5443	POMC	ORPHA:71526
HP:0012638	Abnormal nervous system physiology	5122	PCSK1	ORPHA:71528
HP:0012638	Abnormal nervous system physiology	55186	SLC25A36	OMIM:620211
HP:0012638	Abnormal nervous system physiology	4604	MYBPC1	OMIM:618524
HP:0012638	Abnormal nervous system physiology	1629	DBT	OMIM:620699
HP:0012638	Abnormal nervous system physiology	7143	TNR	OMIM:619653
HP:0012638	Abnormal nervous system physiology	203228	C9orf72	OMIM:105550
HP:0012638	Abnormal nervous system physiology	10093	ARPC4	OMIM:620141
HP:0012638	Abnormal nervous system physiology	57505	AARS2	OMIM:615889
HP:0012638	Abnormal nervous system physiology	4884	NPTX1	OMIM:620158
HP:0012638	Abnormal nervous system physiology	2248	FGF3	OMIM:610706
HP:0012638	Abnormal nervous system physiology	7043	TGFB3	OMIM:615582
HP:0012638	Abnormal nervous system physiology	8496	PPFIBP1	OMIM:620024
HP:0012638	Abnormal nervous system physiology	83479	DDX59	OMIM:174300
HP:0012638	Abnormal nervous system physiology	51079	NDUFA13	OMIM:618249
HP:0012638	Abnormal nervous system physiology	22872	SEC31A	OMIM:618651
HP:0012638	Abnormal nervous system physiology	55361	PI4K2A	OMIM:620732
HP:0012638	Abnormal nervous system physiology	2746	GLUD1	ORPHA:35878
HP:0012638	Abnormal nervous system physiology	4613	MYCN	OMIM:620748
HP:0012638	Abnormal nervous system physiology	55129	ANO10	ORPHA:284289
HP:0012638	Abnormal nervous system physiology	23162	MAPK8IP3	OMIM:618443
HP:0012638	Abnormal nervous system physiology	8565	YARS1	OMIM:619418
HP:0012638	Abnormal nervous system physiology	29071	C1GALT1C1	OMIM:301110
HP:0012638	Abnormal nervous system physiology	9230	RAB11B	OMIM:617807
HP:0012638	Abnormal nervous system physiology	9247	GCM2	OMIM:618883
HP:0012638	Abnormal nervous system physiology	9247	GCM2	ORPHA:2239
HP:0012638	Abnormal nervous system physiology	2625	GATA3	ORPHA:2237
HP:0012638	Abnormal nervous system physiology	5741	PTH	OMIM:146200
HP:0012638	Abnormal nervous system physiology	122622	ADSS1	ORPHA:482601
HP:0012638	Abnormal nervous system physiology	1786	DNMT1	ORPHA:314404
HP:0012638	Abnormal nervous system physiology	2192	FBLN1	ORPHA:404451
HP:0012638	Abnormal nervous system physiology	51501	HIKESHI	OMIM:616881
HP:0012638	Abnormal nervous system physiology	7259	TSPYL1	OMIM:608800
HP:0012638	Abnormal nervous system physiology	55679	LIMS2	OMIM:616827
HP:0012638	Abnormal nervous system physiology	658	BMPR1B	OMIM:616849
HP:0012638	Abnormal nervous system physiology	81704	DOCK8	OMIM:243700
HP:0012638	Abnormal nervous system physiology	7175	TPR	OMIM:620393
HP:0012638	Abnormal nervous system physiology	50964	SOST	OMIM:269500
HP:0012638	Abnormal nervous system physiology	50964	SOST	OMIM:122860
HP:0012638	Abnormal nervous system physiology	8974	P4HA2	ORPHA:397
HP:0012638	Abnormal nervous system physiology	7428	VHL	OMIM:263400
HP:0012638	Abnormal nervous system physiology	7428	VHL	ORPHA:892
HP:0012638	Abnormal nervous system physiology	85446	ZFHX2	OMIM:147430
HP:0012638	Abnormal nervous system physiology	54790	TET2	ORPHA:98849
HP:0012638	Abnormal nervous system physiology	54790	TET2	ORPHA:3318
HP:0012638	Abnormal nervous system physiology	6427	SRSF2	ORPHA:98849
HP:0012638	Abnormal nervous system physiology	324	APC	ORPHA:99818
HP:0012638	Abnormal nervous system physiology	9881	TRANK1	ORPHA:33543
HP:0012638	Abnormal nervous system physiology	7132	TNFRSF1A	OMIM:142680
HP:0012638	Abnormal nervous system physiology	1277	COL1A1	ORPHA:287
HP:0012638	Abnormal nervous system physiology	1289	COL5A1	ORPHA:287
HP:0012638	Abnormal nervous system physiology	1290	COL5A2	ORPHA:287
HP:0012638	Abnormal nervous system physiology	1175	AP2S1	OMIM:600740
HP:0012638	Abnormal nervous system physiology	4853	NOTCH2	ORPHA:955
HP:0012638	Abnormal nervous system physiology	10019	SH2B3	OMIM:133100
HP:0012638	Abnormal nervous system physiology	10019	SH2B3	ORPHA:3318
HP:0012638	Abnormal nervous system physiology	2057	EPOR	OMIM:133100
HP:0012638	Abnormal nervous system physiology	2057	EPOR	ORPHA:90042
HP:0012638	Abnormal nervous system physiology	2321	FLT1	ORPHA:275555
HP:0012638	Abnormal nervous system physiology	219736	STOX1	ORPHA:275555
HP:0012638	Abnormal nervous system physiology	10699	CORIN	ORPHA:275555
HP:0012638	Abnormal nervous system physiology	30813	VSX1	OMIM:614195
HP:0012638	Abnormal nervous system physiology	9493	KIF23	ORPHA:98870
HP:0012638	Abnormal nervous system physiology	29127	RACGAP1	ORPHA:98870
HP:0012638	Abnormal nervous system physiology	81839	VANGL1	OMIM:600145
HP:0012638	Abnormal nervous system physiology	811	CALR	ORPHA:3318
HP:0012638	Abnormal nervous system physiology	9573	GDF3	ORPHA:2345
HP:0012638	Abnormal nervous system physiology	4222	MEOX1	ORPHA:2345
HP:0012638	Abnormal nervous system physiology	165918	RNF168	ORPHA:420741
HP:0012638	Abnormal nervous system physiology	1188	CLCNKB	ORPHA:358
HP:0012638	Abnormal nervous system physiology	4088	SMAD3	ORPHA:284984
HP:0012638	Abnormal nervous system physiology	1991	ELANE	ORPHA:2686
HP:0012638	Abnormal nervous system physiology	4868	NPHS1	ORPHA:656
HP:0012638	Abnormal nervous system physiology	23607	CD2AP	ORPHA:656
HP:0012638	Abnormal nervous system physiology	9688	NUP93	ORPHA:656
HP:0012638	Abnormal nervous system physiology	4643	MYO1E	ORPHA:656
HP:0012638	Abnormal nervous system physiology	64423	INF2	ORPHA:656
HP:0012638	Abnormal nervous system physiology	26130	GAPVD1	ORPHA:656
HP:0012638	Abnormal nervous system physiology	7490	WT1	ORPHA:656
HP:0012638	Abnormal nervous system physiology	51479	ANKFY1	ORPHA:656
HP:0012638	Abnormal nervous system physiology	54443	ANLN	ORPHA:656
HP:0012638	Abnormal nervous system physiology	5800	PTPRO	ORPHA:656
HP:0012638	Abnormal nervous system physiology	23165	NUP205	ORPHA:656
HP:0012638	Abnormal nervous system physiology	2013	EMP2	ORPHA:656
HP:0012638	Abnormal nervous system physiology	79023	NUP37	ORPHA:656
HP:0012638	Abnormal nervous system physiology	51196	PLCE1	ORPHA:656
HP:0012638	Abnormal nervous system physiology	79902	NUP85	ORPHA:656
HP:0012638	Abnormal nervous system physiology	1285	COL4A3	ORPHA:656
HP:0012638	Abnormal nervous system physiology	79934	COQ8B	ORPHA:656
HP:0012638	Abnormal nervous system physiology	23279	NUP160	ORPHA:656
HP:0012638	Abnormal nervous system physiology	9863	MAGI2	ORPHA:656
HP:0012638	Abnormal nervous system physiology	81	ACTN4	ORPHA:656
HP:0012638	Abnormal nervous system physiology	7225	TRPC6	ORPHA:656
HP:0012638	Abnormal nervous system physiology	8542	APOL1	ORPHA:656
HP:0012638	Abnormal nervous system physiology	54885	TBC1D8B	ORPHA:656
HP:0012638	Abnormal nervous system physiology	7827	NPHS2	ORPHA:656
HP:0012638	Abnormal nervous system physiology	83478	ARHGAP24	ORPHA:656
HP:0012638	Abnormal nervous system physiology	23500	DAAM2	ORPHA:656
HP:0012638	Abnormal nervous system physiology	9663	LPIN2	ORPHA:77297
HP:0012638	Abnormal nervous system physiology	84196	USP48	ORPHA:96253
HP:0012638	Abnormal nervous system physiology	9101	USP8	ORPHA:96253
HP:0012638	Abnormal nervous system physiology	2908	NR3C1	ORPHA:96253
HP:0012638	Abnormal nervous system physiology	51116	MRPS2	OMIM:617950
HP:0012638	Abnormal nervous system physiology	1181	CLCN2	OMIM:615651
HP:0012638	Abnormal nervous system physiology	1181	CLCN2	ORPHA:404
HP:0012638	Abnormal nervous system physiology	4128	MAOA	OMIM:300615
HP:0012638	Abnormal nervous system physiology	4878	NPPA	ORPHA:1344
HP:0012638	Abnormal nervous system physiology	55107	ANO1	OMIM:620687
HP:0012638	Abnormal nervous system physiology	2077	ERF	ORPHA:207
HP:0012638	Abnormal nervous system physiology	8792	TNFRSF11A	OMIM:602080
HP:0012638	Abnormal nervous system physiology	27019	DNAI1	OMIM:244400
HP:0012638	Abnormal nervous system physiology	4041	LRP5	ORPHA:178377
HP:0012638	Abnormal nervous system physiology	4041	LRP5	OMIM:607634
HP:0012638	Abnormal nervous system physiology	27349	MCAT	OMIM:620583
HP:0012638	Abnormal nervous system physiology	151	ADRA2B	ORPHA:86814
HP:0012638	Abnormal nervous system physiology	1501	CTNND2	ORPHA:86814
HP:0012638	Abnormal nervous system physiology	10299	MARCHF6	ORPHA:86814
HP:0012638	Abnormal nervous system physiology	6900	CNTN2	ORPHA:86814
HP:0012638	Abnormal nervous system physiology	401474	SAMD12	ORPHA:86814
HP:0012638	Abnormal nervous system physiology	4780	NFE2L2	OMIM:617744
HP:0012638	Abnormal nervous system physiology	3426	CFI	ORPHA:244242
HP:0012638	Abnormal nervous system physiology	4179	CD46	ORPHA:244242
HP:0012638	Abnormal nervous system physiology	101101692	HELLPAR	ORPHA:244242
HP:0012638	Abnormal nervous system physiology	91662	NLRP12	OMIM:611762
HP:0012638	Abnormal nervous system physiology	23516	SLC39A14	OMIM:144755
HP:0012638	Abnormal nervous system physiology	595	CCND1	ORPHA:892
HP:0012638	Abnormal nervous system physiology	1027	CDKN1B	ORPHA:652
HP:0012638	Abnormal nervous system physiology	1026	CDKN1A	ORPHA:652
HP:0012638	Abnormal nervous system physiology	1030	CDKN2B	ORPHA:652
HP:0012638	Abnormal nervous system physiology	1031	CDKN2C	ORPHA:652
HP:0012638	Abnormal nervous system physiology	9365	KL	OMIM:617994
HP:0012638	Abnormal nervous system physiology	1584	CYP11B1	ORPHA:403
HP:0012638	Abnormal nervous system physiology	1585	CYP11B2	ORPHA:403
HP:0012638	Abnormal nervous system physiology	587	BCAT2	OMIM:618850
HP:0012638	Abnormal nervous system physiology	4067	LYN	OMIM:620376
HP:0012638	Abnormal nervous system physiology	6442	SGCA	OMIM:608099
HP:0012638	Abnormal nervous system physiology	7067	THRA	OMIM:614450
HP:0012638	Abnormal nervous system physiology	1743	DLST	ORPHA:29072
HP:0012638	Abnormal nervous system physiology	8402	SLC25A11	ORPHA:29072
HP:0012638	Abnormal nervous system physiology	54949	SDHAF2	ORPHA:29072
HP:0012638	Abnormal nervous system physiology	55654	TMEM127	ORPHA:29072
HP:0012638	Abnormal nervous system physiology	4149	MAX	ORPHA:29072
HP:0012638	Abnormal nervous system physiology	2034	EPAS1	ORPHA:276621
HP:0012638	Abnormal nervous system physiology	10765	KDM5B	OMIM:618109
HP:0012638	Abnormal nervous system physiology	10586	MAB21L2	OMIM:615877
HP:0012638	Abnormal nervous system physiology	8812	CCNK	OMIM:618147
HP:0012638	Abnormal nervous system physiology	9918	NCAPD2	OMIM:617983
HP:0012638	Abnormal nervous system physiology	55755	CDK5RAP2	OMIM:604804
HP:0012638	Abnormal nervous system physiology	23397	NCAPH	OMIM:617985
HP:0012638	Abnormal nervous system physiology	23780	APOL2	OMIM:181500
HP:0012638	Abnormal nervous system physiology	267012	DAOA	OMIM:181500
HP:0012638	Abnormal nervous system physiology	3356	HTR2A	OMIM:181500
HP:0012638	Abnormal nervous system physiology	6854	SYN2	OMIM:181500
HP:0012638	Abnormal nervous system physiology	1814	DRD3	OMIM:181500
HP:0012638	Abnormal nervous system physiology	27184	DISC2	OMIM:181500
HP:0012638	Abnormal nervous system physiology	65078	RTN4R	OMIM:181500
HP:0012638	Abnormal nervous system physiology	80832	APOL4	OMIM:181500
HP:0012638	Abnormal nervous system physiology	1116	CHI3L1	OMIM:181500
HP:0012638	Abnormal nervous system physiology	23511	NUP188	OMIM:618804
HP:0012638	Abnormal nervous system physiology	23135	KDM6B	OMIM:618505
HP:0012638	Abnormal nervous system physiology	9690	UBE3C	OMIM:620270
HP:0012638	Abnormal nervous system physiology	7021	TFAP2B	ORPHA:46627
HP:0012638	Abnormal nervous system physiology	790955	UQCC3	OMIM:616111
HP:0012638	Abnormal nervous system physiology	57459	GATAD2B	ORPHA:363686
HP:0012638	Abnormal nervous system physiology	256471	MFSD8	OMIM:610951
HP:0012638	Abnormal nervous system physiology	5836	PYGL	ORPHA:369
HP:0012638	Abnormal nervous system physiology	3067	HDC	OMIM:137580
HP:0012638	Abnormal nervous system physiology	114798	SLITRK1	OMIM:137580
HP:0012638	Abnormal nervous system physiology	284361	EMC10	OMIM:619264
HP:0012638	Abnormal nervous system physiology	10269	ZMPSTE24	ORPHA:740
HP:0012638	Abnormal nervous system physiology	51021	MRPS16	OMIM:610498
HP:0012638	Abnormal nervous system physiology	81693	AMN	ORPHA:35858
HP:0012638	Abnormal nervous system physiology	55037	PTCD3	OMIM:619057
HP:0012638	Abnormal nervous system physiology	100303755	PET117	OMIM:619063
HP:0012638	Abnormal nervous system physiology	1327	COX4I1	OMIM:619060
HP:0012638	Abnormal nervous system physiology	122961	ISCA2	OMIM:616370
HP:0012638	Abnormal nervous system physiology	10463	SLC30A9	OMIM:617595
HP:0012638	Abnormal nervous system physiology	959	CD40LG	OMIM:308230
HP:0012638	Abnormal nervous system physiology	341208	HEPHL1	OMIM:261990
HP:0012638	Abnormal nervous system physiology	25886	POC1A	OMIM:614813
HP:0012638	Abnormal nervous system physiology	9419	CRIPT	OMIM:615789
HP:0012638	Abnormal nervous system physiology	9080	CLDN9	OMIM:619093
HP:0012638	Abnormal nervous system physiology	23646	PLD3	OMIM:617770
HP:0012638	Abnormal nervous system physiology	5357	PLS1	OMIM:618787
HP:0012638	Abnormal nervous system physiology	5457	POU4F1	ORPHA:314647
HP:0012638	Abnormal nervous system physiology	8566	PDXK	OMIM:618511
HP:0012638	Abnormal nervous system physiology	9750	RIPOR2	OMIM:616515
HP:0012638	Abnormal nervous system physiology	7054	TH	ORPHA:101150
HP:0012638	Abnormal nervous system physiology	2153	F5	ORPHA:131
HP:0012638	Abnormal nervous system physiology	3594	IL12RB1	ORPHA:186
HP:0012638	Abnormal nervous system physiology	6689	SPIB	ORPHA:186
HP:0012638	Abnormal nervous system physiology	5450	POU2AF1	ORPHA:186
HP:0012638	Abnormal nervous system physiology	9966	TNFSF15	ORPHA:186
HP:0012638	Abnormal nervous system physiology	79258	MMEL1	ORPHA:186
HP:0012638	Abnormal nervous system physiology	60561	RINT1	OMIM:618641
HP:0012638	Abnormal nervous system physiology	54914	FOCAD	OMIM:619991
HP:0012638	Abnormal nervous system physiology	7289	TULP3	OMIM:619902
HP:0012638	Abnormal nervous system physiology	4068	SH2D1A	OMIM:308240
HP:0012638	Abnormal nervous system physiology	331	XIAP	OMIM:308240
HP:0012638	Abnormal nervous system physiology	84665	MYPN	ORPHA:171439
HP:0012638	Abnormal nervous system physiology	390594	KBTBD13	ORPHA:171439
HP:0012638	Abnormal nervous system physiology	1513	CTSK	ORPHA:763
HP:0012638	Abnormal nervous system physiology	6712	SPTBN2	OMIM:600224
HP:0012638	Abnormal nervous system physiology	55131	RBM28	OMIM:612079
HP:0012638	Abnormal nervous system physiology	146227	BEAN1	ORPHA:217012
HP:0012638	Abnormal nervous system physiology	56983	POGLUT1	OMIM:617232
HP:0012638	Abnormal nervous system physiology	6606	SMN1	OMIM:271150
HP:0012638	Abnormal nervous system physiology	1297	COL9A1	ORPHA:166002
HP:0012638	Abnormal nervous system physiology	1300	COL10A1	ORPHA:174
HP:0012638	Abnormal nervous system physiology	1300	COL10A1	OMIM:156500
HP:0012638	Abnormal nervous system physiology	9241	NOG	OMIM:186500
HP:0012638	Abnormal nervous system physiology	2335	FN1	OMIM:184255
HP:0012638	Abnormal nervous system physiology	8720	MBTPS1	OMIM:618392
HP:0012638	Abnormal nervous system physiology	6569	SLC34A1	ORPHA:157215
HP:0012638	Abnormal nervous system physiology	158326	FREM1	ORPHA:3366
HP:0012638	Abnormal nervous system physiology	374393	FAM111B	OMIM:615704
HP:0012638	Abnormal nervous system physiology	64208	POPDC3	OMIM:618848
HP:0012638	Abnormal nervous system physiology	5826	ABCD4	OMIM:614857
HP:0012638	Abnormal nervous system physiology	5479	PPIB	OMIM:259440
HP:0012638	Abnormal nervous system physiology	4160	MC4R	ORPHA:71529
HP:0012638	Abnormal nervous system physiology	4160	MC4R	OMIM:618406
HP:0012638	Abnormal nervous system physiology	3952	LEP	ORPHA:66628
HP:0012638	Abnormal nervous system physiology	3952	LEP	OMIM:614962
HP:0012638	Abnormal nervous system physiology	6452	SH3BP2	ORPHA:184
HP:0012638	Abnormal nervous system physiology	150	ADRA2A	OMIM:620679
HP:0012638	Abnormal nervous system physiology	59341	TRPV4	OMIM:606071
HP:0012638	Abnormal nervous system physiology	59341	TRPV4	OMIM:181405
HP:0012638	Abnormal nervous system physiology	80821	DDHD1	OMIM:609340
HP:0012638	Abnormal nervous system physiology	4311	MME	OMIM:617018
HP:0012638	Abnormal nervous system physiology	4311	MME	OMIM:617017
HP:0012638	Abnormal nervous system physiology	4311	MME	ORPHA:497764
HP:0012638	Abnormal nervous system physiology	10516	FBLN5	OMIM:608895
HP:0012638	Abnormal nervous system physiology	10516	FBLN5	OMIM:619764
HP:0012638	Abnormal nervous system physiology	56704	JPH1	OMIM:607831
HP:0012638	Abnormal nervous system physiology	90678	LRSAM1	OMIM:614436
HP:0012638	Abnormal nervous system physiology	81846	SBF2	OMIM:604563
HP:0012638	Abnormal nervous system physiology	81846	SBF2	ORPHA:99956
HP:0012638	Abnormal nervous system physiology	219285	SAMD9L	OMIM:159550
HP:0012638	Abnormal nervous system physiology	8888	MCM3AP	OMIM:618124
HP:0012638	Abnormal nervous system physiology	463	ZFHX3	OMIM:600223
HP:0012638	Abnormal nervous system physiology	9517	SPTLC2	OMIM:613640
HP:0012638	Abnormal nervous system physiology	9517	SPTLC2	ORPHA:36386
HP:0012638	Abnormal nervous system physiology	26090	ABHD12	OMIM:612674
HP:0012638	Abnormal nervous system physiology	121512	FGD4	OMIM:609311
HP:0012638	Abnormal nervous system physiology	25923	ATL3	ORPHA:36386
HP:0012638	Abnormal nervous system physiology	4000	LMNA	OMIM:605588
HP:0012638	Abnormal nervous system physiology	4000	LMNA	ORPHA:98856
HP:0012638	Abnormal nervous system physiology	65260	COA7	OMIM:618387
HP:0012638	Abnormal nervous system physiology	8898	MTMR2	OMIM:601382
HP:0012638	Abnormal nervous system physiology	6305	SBF1	OMIM:615284
HP:0012638	Abnormal nervous system physiology	55958	KLHL9	ORPHA:399081
HP:0012638	Abnormal nervous system physiology	5375	PMP2	OMIM:618279
HP:0012638	Abnormal nervous system physiology	9516	LITAF	OMIM:601098
HP:0012638	Abnormal nervous system physiology	3094	HINT1	OMIM:137200
HP:0012638	Abnormal nervous system physiology	3300	DNAJB2	OMIM:614881
HP:0012638	Abnormal nervous system physiology	8139	GAN	ORPHA:643
HP:0012638	Abnormal nervous system physiology	8139	GAN	OMIM:256850
HP:0012638	Abnormal nervous system physiology	26353	HSPB8	OMIM:608673
HP:0012638	Abnormal nervous system physiology	79628	SH3TC2	OMIM:601596
HP:0012638	Abnormal nervous system physiology	59345	GNB4	OMIM:615185
HP:0012638	Abnormal nervous system physiology	3508	IGHMBP2	OMIM:616155
HP:0012638	Abnormal nervous system physiology	57716	PRX	OMIM:614895
HP:0012638	Abnormal nervous system physiology	57716	PRX	OMIM:145900
HP:0012638	Abnormal nervous system physiology	8729	GBF1	OMIM:606483
HP:0012638	Abnormal nervous system physiology	5888	RAD51	ORPHA:238722
HP:0012638	Abnormal nervous system physiology	10126	DNAL4	ORPHA:238722
HP:0012638	Abnormal nervous system physiology	9423	NTN1	ORPHA:238722
HP:0012638	Abnormal nervous system physiology	3939	LDHA	ORPHA:284426
HP:0012638	Abnormal nervous system physiology	5913	RAPSN	OMIM:616326
HP:0012638	Abnormal nervous system physiology	5913	RAPSN	ORPHA:98913
HP:0012638	Abnormal nervous system physiology	8988	HSPB3	OMIM:613376
HP:0012638	Abnormal nervous system physiology	55280	CWF19L1	OMIM:616127
HP:0012638	Abnormal nervous system physiology	64419	MTMR14	OMIM:160150
HP:0012638	Abnormal nervous system physiology	1785	DNM2	OMIM:160150
HP:0012638	Abnormal nervous system physiology	8838	CCN6	ORPHA:1159
HP:0012638	Abnormal nervous system physiology	5573	PRKAR1A	ORPHA:615
HP:0012638	Abnormal nervous system physiology	4038	LRP4	ORPHA:98913
HP:0012638	Abnormal nervous system physiology	1140	CHRNB1	ORPHA:98913
HP:0012638	Abnormal nervous system physiology	1140	CHRNB1	OMIM:616313
HP:0012638	Abnormal nervous system physiology	221264	AK9	ORPHA:98913
HP:0012638	Abnormal nervous system physiology	7234	TRU-TCA1-1	OMIM:620198
HP:0012638	Abnormal nervous system physiology	57104	PNPLA2	OMIM:610717
HP:0012638	Abnormal nervous system physiology	57104	PNPLA2	ORPHA:98908
HP:0012638	Abnormal nervous system physiology	50515	CHST11	OMIM:618167
HP:0012638	Abnormal nervous system physiology	55033	FKBP14	ORPHA:300179
HP:0012638	Abnormal nervous system physiology	79572	ATP13A3	OMIM:265400
HP:0012638	Abnormal nervous system physiology	5213	PFKM	OMIM:232800
HP:0012638	Abnormal nervous system physiology	55750	AGK	OMIM:212350
HP:0012638	Abnormal nervous system physiology	23479	ISCU	OMIM:255125
HP:0012638	Abnormal nervous system physiology	844	CASQ1	OMIM:616231
HP:0012638	Abnormal nervous system physiology	9531	BAG3	OMIM:612954
HP:0012638	Abnormal nervous system physiology	6786	STIM1	OMIM:160565
HP:0012638	Abnormal nervous system physiology	6472	SHMT2	OMIM:619121
HP:0012638	Abnormal nervous system physiology	6399	TRAPPC2	ORPHA:93284
HP:0012638	Abnormal nervous system physiology	9630	GNA14	ORPHA:1063
HP:0012638	Abnormal nervous system physiology	64856	VWA1	OMIM:619216
HP:0012638	Abnormal nervous system physiology	7389	UROD	ORPHA:95159
HP:0012638	Abnormal nervous system physiology	7390	UROS	ORPHA:79277
HP:0012638	Abnormal nervous system physiology	59344	ALOXE3	OMIM:242100
HP:0012638	Abnormal nervous system physiology	242	ALOX12B	OMIM:242100
HP:0012638	Abnormal nervous system physiology	590	BCHE	ORPHA:132
HP:0012638	Abnormal nervous system physiology	100134444	KCNJ18	ORPHA:79102
HP:0012638	Abnormal nervous system physiology	779	CACNA1S	ORPHA:79102
HP:0012638	Abnormal nervous system physiology	779	CACNA1S	ORPHA:681
HP:0012638	Abnormal nervous system physiology	10008	KCNE3	ORPHA:681
HP:0012638	Abnormal nervous system physiology	8456	FOXN1	ORPHA:83471
HP:0012638	Abnormal nervous system physiology	8675	STX16	ORPHA:94089
HP:0012638	Abnormal nervous system physiology	10568	SLC34A2	ORPHA:60025
HP:0012638	Abnormal nervous system physiology	3475	IFRD1	ORPHA:98771
HP:0012638	Abnormal nervous system physiology	7840	ALMS1	ORPHA:64
HP:0012638	Abnormal nervous system physiology	80207	OPA3	ORPHA:67036
HP:0012638	Abnormal nervous system physiology	8029	CUBN	OMIM:261100
HP:0012638	Abnormal nervous system physiology	7879	RAB7A	OMIM:600882
HP:0012638	Abnormal nervous system physiology	5264	PHYH	OMIM:266500
HP:0012638	Abnormal nervous system physiology	3035	HARS1	ORPHA:488333
HP:0012638	Abnormal nervous system physiology	487	ATP2A1	OMIM:601003
HP:0012638	Abnormal nervous system physiology	57449	PLEKHG5	OMIM:615376
HP:0012638	Abnormal nervous system physiology	2694	CBLIF	OMIM:261000
HP:0012638	Abnormal nervous system physiology	4141	MARS1	OMIM:620323
HP:0012638	Abnormal nervous system physiology	57410	SCYL1	ORPHA:466794
HP:0012638	Abnormal nervous system physiology	10397	NDRG1	ORPHA:99950
HP:0012638	Abnormal nervous system physiology	55526	DHTKD1	OMIM:615025
HP:0012638	Abnormal nervous system physiology	55154	MSTO1	ORPHA:502423
HP:0012638	Abnormal nervous system physiology	9927	MFN2	ORPHA:99947
HP:0012638	Abnormal nervous system physiology	5376	PMP22	ORPHA:3115
HP:0012638	Abnormal nervous system physiology	60481	ELOVL5	ORPHA:423296
HP:0012638	Abnormal nervous system physiology	23769	FLRT1	ORPHA:320406
HP:0012638	Abnormal nervous system physiology	64837	KLC2	ORPHA:320406
HP:0012638	Abnormal nervous system physiology	50717	DCAF8	OMIM:610100
HP:0012638	Abnormal nervous system physiology	19	ABCA1	OMIM:205400
HP:0012638	Abnormal nervous system physiology	19	ABCA1	ORPHA:31150
HP:0012638	Abnormal nervous system physiology	274	BIN1	ORPHA:169189
HP:0012638	Abnormal nervous system physiology	4618	MYF6	ORPHA:169189
HP:0012638	Abnormal nervous system physiology	23321	TRIM2	OMIM:615490
HP:0012638	Abnormal nervous system physiology	5351	PLOD1	ORPHA:1900
HP:0012638	Abnormal nervous system physiology	2064	ERBB2	OMIM:619465
HP:0012638	Abnormal nervous system physiology	113612	CYP2U1	OMIM:615030
HP:0012638	Abnormal nervous system physiology	113612	CYP2U1	ORPHA:320411
HP:0012638	Abnormal nervous system physiology	80347	COASY	ORPHA:397725
HP:0012638	Abnormal nervous system physiology	9147	NEMF	OMIM:619099
HP:0012638	Abnormal nervous system physiology	4556	MT-TE	ORPHA:2596
HP:0012638	Abnormal nervous system physiology	3852	KRT5	ORPHA:79400
HP:0012638	Abnormal nervous system physiology	3861	KRT14	ORPHA:79400
HP:0012638	Abnormal nervous system physiology	10058	ABCB6	OMIM:609153
HP:0012638	Abnormal nervous system physiology	54112	GPR88	OMIM:616939
HP:0012638	Abnormal nervous system physiology	6857	SYT1	OMIM:618218
HP:0012638	Abnormal nervous system physiology	8643	PTCH2	ORPHA:377
HP:0012638	Abnormal nervous system physiology	3972	LHB	OMIM:228300
HP:0012638	Abnormal nervous system physiology	10011	SRA1	OMIM:146110
HP:0012638	Abnormal nervous system physiology	2796	GNRH1	OMIM:146110
HP:0012638	Abnormal nervous system physiology	558	AXL	OMIM:146110
HP:0012638	Abnormal nervous system physiology	2798	GNRHR	OMIM:146110
HP:0012638	Abnormal nervous system physiology	2488	FSHB	OMIM:229070
HP:0012638	Abnormal nervous system physiology	10194	TSHZ1	OMIM:607842
HP:0012638	Abnormal nervous system physiology	5781	PTPN11	OMIM:151100
HP:0012638	Abnormal nervous system physiology	1656	DDX6	OMIM:618653
HP:0012638	Abnormal nervous system physiology	11315	PARK7	ORPHA:2828
HP:0012638	Abnormal nervous system physiology	65018	PINK1	ORPHA:2828
HP:0012638	Abnormal nervous system physiology	5071	PRKN	ORPHA:2828
HP:0012638	Abnormal nervous system physiology	9381	OTOF	OMIM:601071
HP:0012638	Abnormal nervous system physiology	58472	SQOR	OMIM:619221
HP:0012638	Abnormal nervous system physiology	318	NUDT2	OMIM:619844
HP:0012638	Abnormal nervous system physiology	5010	CLDN11	OMIM:619328
HP:0012638	Abnormal nervous system physiology	2184	FAH	OMIM:276700
HP:0012638	Abnormal nervous system physiology	81624	DIAPH3	OMIM:609129
HP:0012638	Abnormal nervous system physiology	8864	PER2	OMIM:604348
HP:0012638	Abnormal nervous system physiology	30011	SH3KBP1	OMIM:300310
HP:0012638	Abnormal nervous system physiology	2583	B4GALNT1	ORPHA:101006
HP:0012638	Abnormal nervous system physiology	9439	MED23	OMIM:614249
HP:0012638	Abnormal nervous system physiology	4897	NRCAM	OMIM:619833
HP:0012638	Abnormal nervous system physiology	5521	PPP2R2B	OMIM:604326
HP:0012638	Abnormal nervous system physiology	5521	PPP2R2B	ORPHA:98762
HP:0012638	Abnormal nervous system physiology	28958	COA3	OMIM:619058
HP:0012638	Abnormal nervous system physiology	112812	FDX2	OMIM:251900
HP:0012638	Abnormal nervous system physiology	191	AHCY	ORPHA:88618
HP:0012638	Abnormal nervous system physiology	4361	MRE11	ORPHA:251347
HP:0012638	Abnormal nervous system physiology	7317	UBA1	ORPHA:1145
HP:0012638	Abnormal nervous system physiology	4665	NAB2	ORPHA:2126
HP:0012638	Abnormal nervous system physiology	6778	STAT6	ORPHA:2126
HP:0012638	Abnormal nervous system physiology	54974	THG1L	OMIM:618800
HP:0012638	Abnormal nervous system physiology	176	ACAN	ORPHA:435804
HP:0012638	Abnormal nervous system physiology	51083	GAL	OMIM:616461
HP:0012638	Abnormal nervous system physiology	57107	PDSS2	OMIM:614652
HP:0012638	Abnormal nervous system physiology	57176	VARS2	OMIM:615917
HP:0012638	Abnormal nervous system physiology	5917	RARS1	ORPHA:438114
HP:0012638	Abnormal nervous system physiology	1353	COX11	OMIM:620275
HP:0012638	Abnormal nervous system physiology	4131	MAP1B	OMIM:618918
HP:0012638	Abnormal nervous system physiology	4131	MAP1B	ORPHA:98892
HP:0012638	Abnormal nervous system physiology	6844	VAMP2	OMIM:618760
HP:0012638	Abnormal nervous system physiology	340665	CYP26C1	ORPHA:398189
HP:0012638	Abnormal nervous system physiology	8789	FBP2	OMIM:619864
HP:0012638	Abnormal nervous system physiology	5442	POLRMT	OMIM:619743
HP:0012638	Abnormal nervous system physiology	5833	PCYT2	OMIM:618770
HP:0012638	Abnormal nervous system physiology	23265	EXOC7	OMIM:619072
HP:0012638	Abnormal nervous system physiology	23154	NCDN	OMIM:619373
HP:0012638	Abnormal nervous system physiology	1315	COPB1	OMIM:619255
HP:0012638	Abnormal nervous system physiology	2801	GOLGA2	OMIM:620240
HP:0012638	Abnormal nervous system physiology	1468	SLC25A10	OMIM:618972
HP:0012638	Abnormal nervous system physiology	10749	KIF1C	ORPHA:397946
HP:0012638	Abnormal nervous system physiology	4099	MAG	OMIM:616680
HP:0012638	Abnormal nervous system physiology	55532	SLC30A10	ORPHA:309854
HP:0012638	Abnormal nervous system physiology	7148	TNXB	ORPHA:230839
HP:0012638	Abnormal nervous system physiology	5165	PDK3	OMIM:300905
HP:0012638	Abnormal nervous system physiology	80270	HSD3B7	ORPHA:79301
HP:0012638	Abnormal nervous system physiology	162	AP1B1	OMIM:242150
HP:0012638	Abnormal nervous system physiology	162	AP1B1	ORPHA:171851
HP:0012638	Abnormal nervous system physiology	2200	FBN1	ORPHA:2833
HP:0012638	Abnormal nervous system physiology	2200	FBN1	OMIM:184900
HP:0012638	Abnormal nervous system physiology	55699	IARS2	ORPHA:436174
HP:0012638	Abnormal nervous system physiology	55699	IARS2	OMIM:616007
HP:0012638	Abnormal nervous system physiology	823	CAPN1	OMIM:616907
HP:0012638	Abnormal nervous system physiology	823	CAPN1	ORPHA:488594
HP:0012638	Abnormal nervous system physiology	343641	TGM6	ORPHA:276193
HP:0012638	Abnormal nervous system physiology	7274	TTPA	ORPHA:96
HP:0012638	Abnormal nervous system physiology	23203	PMPCA	ORPHA:1170
HP:0012638	Abnormal nervous system physiology	9907	AP5Z1	OMIM:613647
HP:0012638	Abnormal nervous system physiology	9907	AP5Z1	ORPHA:306511
HP:0012638	Abnormal nervous system physiology	1174	AP1S1	OMIM:609313
HP:0012638	Abnormal nervous system physiology	1174	AP1S1	ORPHA:171851
HP:0012638	Abnormal nervous system physiology	54332	GDAP1	OMIM:608340
HP:0012638	Abnormal nervous system physiology	2243	FGA	OMIM:105200
HP:0012638	Abnormal nervous system physiology	10804	GJB6	ORPHA:477
HP:0012638	Abnormal nervous system physiology	2706	GJB2	ORPHA:477
HP:0012638	Abnormal nervous system physiology	10801	SEPTIN9	OMIM:162100
HP:0012638	Abnormal nervous system physiology	10801	SEPTIN9	ORPHA:2901
HP:0012638	Abnormal nervous system physiology	54840	APTX	ORPHA:1168
HP:0012638	Abnormal nervous system physiology	57863	CADM3	OMIM:619519
HP:0012638	Abnormal nervous system physiology	7454	WAS	ORPHA:906
HP:0012638	Abnormal nervous system physiology	7456	WIPF1	ORPHA:906
HP:0012638	Abnormal nervous system physiology	84277	DNAJC30	ORPHA:104
HP:0012638	Abnormal nervous system physiology	4539	MT-ND4L	ORPHA:104
HP:0012638	Abnormal nervous system physiology	25894	PLEKHG4	ORPHA:98765
HP:0012638	Abnormal nervous system physiology	23095	KIF1B	OMIM:118210
HP:0012638	Abnormal nervous system physiology	83636	C19orf12	OMIM:615043
HP:0012638	Abnormal nervous system physiology	6288	SAA1	ORPHA:85445
HP:0012638	Abnormal nervous system physiology	2729	GCLC	ORPHA:33574
HP:0012638	Abnormal nervous system physiology	11117	EMILIN1	OMIM:620080
HP:0012638	Abnormal nervous system physiology	4677	NARS1	OMIM:619091
HP:0012638	Abnormal nervous system physiology	4677	NARS1	OMIM:619092
HP:0012638	Abnormal nervous system physiology	654	BMP6	ORPHA:465508
HP:0012638	Abnormal nervous system physiology	3077	HFE	ORPHA:465508
HP:0012638	Abnormal nervous system physiology	404672	GTF2H5	ORPHA:33364
HP:0012638	Abnormal nervous system physiology	7737	RNF113A	ORPHA:33364
HP:0012638	Abnormal nervous system physiology	136647	MPLKIP	ORPHA:33364
HP:0012638	Abnormal nervous system physiology	6897	TARS1	ORPHA:33364
HP:0012638	Abnormal nervous system physiology	2961	GTF2E2	ORPHA:33364
HP:0012638	Abnormal nervous system physiology	4615	MYD88	ORPHA:33226
HP:0012638	Abnormal nervous system physiology	65125	WNK1	OMIM:201300
HP:0012638	Abnormal nervous system physiology	54463	RETREG1	OMIM:201300
HP:0012638	Abnormal nervous system physiology	1337	COX6A1	OMIM:616039
HP:0012638	Abnormal nervous system physiology	23590	PDSS1	OMIM:614651
HP:0012638	Abnormal nervous system physiology	4069	LYZ	OMIM:620658
HP:0012638	Abnormal nervous system physiology	51062	ATL1	ORPHA:100984
HP:0012638	Abnormal nervous system physiology	51062	ATL1	OMIM:613708
HP:0012638	Abnormal nervous system physiology	7167	TPI1	OMIM:615512
HP:0012638	Abnormal nervous system physiology	4803	NGF	OMIM:608654
HP:0012638	Abnormal nervous system physiology	1959	EGR2	OMIM:607678
HP:0012638	Abnormal nervous system physiology	1959	EGR2	OMIM:605253
HP:0012638	Abnormal nervous system physiology	3315	HSPB1	OMIM:608634
HP:0012638	Abnormal nervous system physiology	6609	SMPD1	ORPHA:77293
HP:0012638	Abnormal nervous system physiology	2632	GBE1	ORPHA:206583
HP:0012638	Abnormal nervous system physiology	5611	DNAJC3	OMIM:616192
HP:0012638	Abnormal nervous system physiology	5981	RFC1	OMIM:614575
HP:0012638	Abnormal nervous system physiology	2065	ERBB3	OMIM:243180
HP:0012638	Abnormal nervous system physiology	64374	SIL1	ORPHA:559
HP:0012638	Abnormal nervous system physiology	56244	BTNL2	ORPHA:797
HP:0012638	Abnormal nervous system physiology	79736	TEFM	OMIM:620451
HP:0012638	Abnormal nervous system physiology	22948	CCT5	ORPHA:139578
HP:0012638	Abnormal nervous system physiology	189	AGXT	OMIM:259900
HP:0012638	Abnormal nervous system physiology	57570	TRMT5	OMIM:616539
HP:0012638	Abnormal nervous system physiology	3033	HADH	ORPHA:71212
HP:0012638	Abnormal nervous system physiology	3710	ITPR3	OMIM:620111
HP:0012638	Abnormal nervous system physiology	11155	LDB3	ORPHA:98912
HP:0012638	Abnormal nervous system physiology	2617	GARS1	OMIM:600794
HP:0012638	Abnormal nervous system physiology	940	CD28	ORPHA:3162
HP:0012638	Abnormal nervous system physiology	7133	TNFRSF1B	ORPHA:3162
HP:0012638	Abnormal nervous system physiology	210	ALAD	ORPHA:100924
HP:0012638	Abnormal nervous system physiology	51663	ZFR	ORPHA:401840
HP:0012638	Abnormal nervous system physiology	55331	ACER3	OMIM:617762
HP:0012638	Abnormal nervous system physiology	6342	SCP2	OMIM:613724
HP:0012638	Abnormal nervous system physiology	161582	DNAAF4	OMIM:127700
HP:0012638	Abnormal nervous system physiology	9509	ADAMTS2	ORPHA:1901
HP:0012638	Abnormal nervous system physiology	860	RUNX2	ORPHA:1452
HP:0012638	Abnormal nervous system physiology	4054	LTBP3	OMIM:617809
HP:0012638	Abnormal nervous system physiology	9790	BMS1	ORPHA:1114
HP:0012638	Abnormal nervous system physiology	3691	ITGB4	ORPHA:1114
HP:0012638	Abnormal nervous system physiology	64127	NOD2	ORPHA:90340
HP:0012638	Abnormal nervous system physiology	55610	VPS50	OMIM:619685
HP:0012638	Abnormal nervous system physiology	3868	KRT16	ORPHA:2199
HP:0012638	Abnormal nervous system physiology	3857	KRT9	ORPHA:2199
HP:0012638	Abnormal nervous system physiology	3848	KRT1	ORPHA:2199
HP:0012638	Abnormal nervous system physiology	165	AEBP1	ORPHA:536532
HP:0012638	Abnormal nervous system physiology	137492	VPS37A	ORPHA:319199
HP:0012638	Abnormal nervous system physiology	59335	PRDM12	OMIM:616488
HP:0012638	Abnormal nervous system physiology	4547	MTTP	ORPHA:14
HP:0012638	Abnormal nervous system physiology	5173	PDYN	ORPHA:101108
HP:0012638	Abnormal nervous system physiology	51128	SAR1B	ORPHA:71
HP:0012638	Abnormal nervous system physiology	708	C1QBP	OMIM:617713
HP:0012638	Abnormal nervous system physiology	9037	SEMA5A	ORPHA:281
HP:0012638	Abnormal nervous system physiology	55628	ZNF407	OMIM:619557
HP:0012638	Abnormal nervous system physiology	8492	PRSS12	OMIM:249500
HP:0012638	Abnormal nervous system physiology	5689	PSMB1	OMIM:620038
HP:0012638	Abnormal nervous system physiology	54862	CC2D1A	OMIM:608443
HP:0012638	Abnormal nervous system physiology	55084	SOBP	OMIM:613671
HP:0012638	Abnormal nervous system physiology	9662	CEP135	OMIM:614673
HP:0012638	Abnormal nervous system physiology	9662	CEP135	ORPHA:2512
HP:0012638	Abnormal nervous system physiology	55969	RAB5IF	OMIM:616994
HP:0012638	Abnormal nervous system physiology	23630	KCNE5	ORPHA:86818
HP:0012638	Abnormal nervous system physiology	4176	MCM7	ORPHA:2512
HP:0012638	Abnormal nervous system physiology	1911	PHC1	ORPHA:2512
HP:0012638	Abnormal nervous system physiology	84282	RNF135	ORPHA:137634
HP:0012638	Abnormal nervous system physiology	9969	MED13	OMIM:618009
HP:0012638	Abnormal nervous system physiology	29927	SEC61A1	OMIM:617056
HP:0012638	Abnormal nervous system physiology	4173	MCM4	OMIM:609981
HP:0012638	Abnormal nervous system physiology	338657	CENATAC	OMIM:620153
HP:0012638	Abnormal nervous system physiology	506	ATP5F1B	OMIM:620085
HP:0012638	Abnormal nervous system physiology	56160	NSMCE3	OMIM:617241
HP:0012638	Abnormal nervous system physiology	497661	C18orf32	OMIM:619985
HP:0012638	Abnormal nervous system physiology	8550	MAPKAPK5	OMIM:619869
HP:0012638	Abnormal nervous system physiology	8882	ZPR1	OMIM:619321
HP:0012638	Abnormal nervous system physiology	5331	PLCB3	OMIM:618961
HP:0012638	Abnormal nervous system physiology	5557	PRIM1	OMIM:620005
HP:0012638	Abnormal nervous system physiology	4860	PNP	ORPHA:760
HP:0012638	Abnormal nervous system physiology	6571	SLC18A2	ORPHA:352649
HP:0012638	Abnormal nervous system physiology	51308	REEP2	ORPHA:401849
HP:0012638	Abnormal nervous system physiology	760	CA2	ORPHA:2785
HP:0012638	Abnormal nervous system physiology	3949	LDLR	ORPHA:391665
HP:0012638	Abnormal nervous system physiology	255738	PCSK9	ORPHA:391665
HP:0012638	Abnormal nervous system physiology	26119	LDLRAP1	ORPHA:391665
HP:0012638	Abnormal nervous system physiology	338	APOB	ORPHA:391665
HP:0012638	Abnormal nervous system physiology	64240	ABCG5	ORPHA:391665
HP:0012638	Abnormal nervous system physiology	64241	ABCG8	ORPHA:391665
HP:0012638	Abnormal nervous system physiology	9829	DNAJC6	ORPHA:391411
HP:0012638	Abnormal nervous system physiology	5420	PODXL	ORPHA:391411
HP:0012638	Abnormal nervous system physiology	8867	SYNJ1	ORPHA:391411
HP:0012638	Abnormal nervous system physiology	5230	PGK1	ORPHA:713
HP:0012638	Abnormal nervous system physiology	2645	GCK	ORPHA:79299
HP:0012638	Abnormal nervous system physiology	5205	ATP8B1	ORPHA:69665
HP:0012638	Abnormal nervous system physiology	8647	ABCB11	ORPHA:69665
HP:0012638	Abnormal nervous system physiology	5244	ABCB4	ORPHA:69665
HP:0012638	Abnormal nervous system physiology	9971	NR1H4	ORPHA:69665
HP:0012638	Abnormal nervous system physiology	4713	NDUFB7	OMIM:620135
HP:0012638	Abnormal nervous system physiology	58499	ZNF462	ORPHA:502430
HP:0012638	Abnormal nervous system physiology	5087	PBX1	ORPHA:97362
HP:0012638	Abnormal nervous system physiology	84548	TMEM185A	ORPHA:100974
HP:0012638	Abnormal nervous system physiology	7252	TSHB	ORPHA:90674
HP:0012638	Abnormal nervous system physiology	4091	SMAD6	OMIM:617439
HP:0012638	Abnormal nervous system physiology	5295	PIK3R1	OMIM:616005
HP:0012638	Abnormal nervous system physiology	5295	PIK3R1	ORPHA:397596
HP:0012638	Abnormal nervous system physiology	7201	TRHR	ORPHA:99832
HP:0012638	Abnormal nervous system physiology	6138	RPL15	ORPHA:124
HP:0012638	Abnormal nervous system physiology	6165	RPL35A	ORPHA:124
HP:0012638	Abnormal nervous system physiology	6132	RPL8	ORPHA:124
HP:0012638	Abnormal nervous system physiology	6232	RPS27	ORPHA:124
HP:0012638	Abnormal nervous system physiology	55027	HEATR3	ORPHA:124
HP:0012638	Abnormal nervous system physiology	6160	RPL31	ORPHA:124
HP:0012638	Abnormal nervous system physiology	6201	RPS7	ORPHA:124
HP:0012638	Abnormal nervous system physiology	6155	RPL27	ORPHA:124
HP:0012638	Abnormal nervous system physiology	6234	RPS28	ORPHA:124
HP:0012638	Abnormal nervous system physiology	6135	RPL11	ORPHA:124
HP:0012638	Abnormal nervous system physiology	6229	RPS24	ORPHA:124
HP:0012638	Abnormal nervous system physiology	6125	RPL5	ORPHA:124
HP:0012638	Abnormal nervous system physiology	6204	RPS10	ORPHA:124
HP:0012638	Abnormal nervous system physiology	2623	GATA1	ORPHA:124
HP:0012638	Abnormal nervous system physiology	6133	RPL9	ORPHA:124
HP:0012638	Abnormal nervous system physiology	6231	RPS26	ORPHA:124
HP:0012638	Abnormal nervous system physiology	11224	RPL35	ORPHA:124
HP:0012638	Abnormal nervous system physiology	6218	RPS17	ORPHA:124
HP:0012638	Abnormal nervous system physiology	6154	RPL26	ORPHA:124
HP:0012638	Abnormal nervous system physiology	6210	RPS15A	ORPHA:124
HP:0012638	Abnormal nervous system physiology	90121	TSR2	ORPHA:124
HP:0012638	Abnormal nervous system physiology	6141	RPL18	ORPHA:124
HP:0012638	Abnormal nervous system physiology	6235	RPS29	ORPHA:124
HP:0012638	Abnormal nervous system physiology	6927	HNF1A	ORPHA:324575
HP:0012638	Abnormal nervous system physiology	7381	UQCRB	OMIM:615158
HP:0012638	Abnormal nervous system physiology	1135	CHRNA2	OMIM:610353
HP:0012638	Abnormal nervous system physiology	7351	UCP2	ORPHA:276556
HP:0012638	Abnormal nervous system physiology	267010	RNU12	ORPHA:512260
HP:0012638	Abnormal nervous system physiology	1351	COX8A	OMIM:619059
HP:0012638	Abnormal nervous system physiology	50833	TAS2R16	OMIM:103780
HP:0012638	Abnormal nervous system physiology	125	ADH1B	OMIM:103780
HP:0012638	Abnormal nervous system physiology	1407	CRY1	OMIM:614163
HP:0012638	Abnormal nervous system physiology	8914	TIMELESS	OMIM:620015
HP:0012638	Abnormal nervous system physiology	8863	PER3	OMIM:616882
HP:0012638	Abnormal nervous system physiology	1291	COL6A1	OMIM:158810
HP:0012638	Abnormal nervous system physiology	1576	CYP3A4	OMIM:619073
HP:0012638	Abnormal nervous system physiology	79879	CCDC134	OMIM:619795
HP:0012638	Abnormal nervous system physiology	23233	EXOC6B	OMIM:618395
HP:0012638	Abnormal nervous system physiology	6907	TBL1X	OMIM:301033
HP:0012638	Abnormal nervous system physiology	84816	RTN4IP1	OMIM:616732
HP:0012638	Abnormal nervous system physiology	5934	RBL2	OMIM:619690
HP:0012638	Abnormal nervous system physiology	400569	MED11	OMIM:620327
HP:0012638	Abnormal nervous system physiology	10021	HCN4	OMIM:619521
HP:0012638	Abnormal nervous system physiology	129285	PPP1R21	OMIM:619383
HP:0012638	Abnormal nervous system physiology	57128	LYRM4	OMIM:615595
HP:0012638	Abnormal nervous system physiology	871	SERPINH1	OMIM:613848
HP:0012638	Abnormal nervous system physiology	84265	POLR3GL	OMIM:619234
HP:0012638	Abnormal nervous system physiology	27327	TNRC6A	OMIM:618074
HP:0012638	Abnormal nervous system physiology	153	ADRB1	OMIM:618591
HP:0012638	Abnormal nervous system physiology	3425	IDUA	ORPHA:93474
HP:0012638	Abnormal nervous system physiology	3425	IDUA	ORPHA:93473
HP:0012638	Abnormal nervous system physiology	6531	SLC6A3	ORPHA:238455
HP:0012638	Abnormal nervous system physiology	23291	FBXW11	OMIM:618914
HP:0012638	Abnormal nervous system physiology	3674	ITGA2B	ORPHA:853
HP:0012638	Abnormal nervous system physiology	3673	ITGA2	ORPHA:853
HP:0012638	Abnormal nervous system physiology	135228	CD109	ORPHA:853
HP:0012638	Abnormal nervous system physiology	3690	ITGB3	ORPHA:853
HP:0012638	Abnormal nervous system physiology	23189	KANK1	OMIM:612900
HP:0012638	Abnormal nervous system physiology	3248	HPGD	ORPHA:2796
HP:0012638	Abnormal nervous system physiology	6578	SLCO2A1	ORPHA:2796
HP:0012638	Abnormal nervous system physiology	5092	PCBD1	ORPHA:1578
HP:0012638	Abnormal nervous system physiology	4549	MT-RNR1	ORPHA:551
HP:0012638	Abnormal nervous system physiology	1186	CLCN7	ORPHA:667
HP:0012638	Abnormal nervous system physiology	29887	SNX10	ORPHA:667
HP:0012638	Abnormal nervous system physiology	4967	OGDH	ORPHA:31
HP:0012638	Abnormal nervous system physiology	1757	SARDH	ORPHA:3129
HP:0012638	Abnormal nervous system physiology	5080	PAX6	ORPHA:1065
HP:0012638	Abnormal nervous system physiology	57338	JPH3	ORPHA:98934
HP:0012638	Abnormal nervous system physiology	1146	CHRNG	ORPHA:2990
HP:0012638	Abnormal nervous system physiology	111	ADCY5	ORPHA:1429
HP:0012638	Abnormal nervous system physiology	7080	NKX2-1	ORPHA:1429
HP:0012638	Abnormal nervous system physiology	57562	CEP126	ORPHA:65684
HP:0012638	Abnormal nervous system physiology	6495	SIX1	OMIM:113650
HP:0012638	Abnormal nervous system physiology	6495	SIX1	ORPHA:107
HP:0012638	Abnormal nervous system physiology	147912	SIX5	ORPHA:107
HP:0012638	Abnormal nervous system physiology	54507	ADAMTSL4	ORPHA:1885
HP:0012638	Abnormal nervous system physiology	1131	CHRM3	ORPHA:2970
HP:0012638	Abnormal nervous system physiology	79798	ARMC5	ORPHA:189427
HP:0012638	Abnormal nervous system physiology	23028	KDM1A	ORPHA:189427
HP:0012638	Abnormal nervous system physiology	9652	SKIC3	OMIM:222470
HP:0012638	Abnormal nervous system physiology	92935	MARS2	OMIM:611390
HP:0012638	Abnormal nervous system physiology	54453	RIN2	ORPHA:217335
HP:0012638	Abnormal nervous system physiology	2542	SLC37A4	ORPHA:79259
HP:0012638	Abnormal nervous system physiology	79827	CLMP	ORPHA:2301
HP:0012638	Abnormal nervous system physiology	151516	ASPRV1	ORPHA:313
HP:0012638	Abnormal nervous system physiology	126410	CYP4F22	ORPHA:313
HP:0012638	Abnormal nervous system physiology	6820	SULT2B1	ORPHA:313
HP:0012638	Abnormal nervous system physiology	26154	ABCA12	ORPHA:313
HP:0012638	Abnormal nervous system physiology	643418	LIPN	ORPHA:313
HP:0012638	Abnormal nervous system physiology	348938	NIPAL4	ORPHA:313
HP:0012638	Abnormal nervous system physiology	121214	SDR9C7	ORPHA:313
HP:0012638	Abnormal nervous system physiology	7051	TGM1	ORPHA:313
HP:0012638	Abnormal nervous system physiology	1756	DMD	ORPHA:98896
HP:0012638	Abnormal nervous system physiology	8425	LTBP4	ORPHA:98896
HP:0012638	Abnormal nervous system physiology	10137	RBM12	OMIM:617629
HP:0012638	Abnormal nervous system physiology	199221	DZIP1L	ORPHA:731
HP:0012638	Abnormal nervous system physiology	5314	PKHD1	ORPHA:731
HP:0012638	Abnormal nervous system physiology	284217	LAMA1	ORPHA:370022
HP:0012638	Abnormal nervous system physiology	26100	WIPI2	OMIM:618453
HP:0012638	Abnormal nervous system physiology	1119	CHKA	OMIM:620023
HP:0012638	Abnormal nervous system physiology	9378	NRXN1	OMIM:614325
HP:0012638	Abnormal nervous system physiology	4905	NSF	OMIM:619340
HP:0012638	Abnormal nervous system physiology	23031	MAST3	OMIM:620115
HP:0012638	Abnormal nervous system physiology	54802	TRIT1	OMIM:617873
HP:0012638	Abnormal nervous system physiology	112	ADCY6	OMIM:616287
HP:0012638	Abnormal nervous system physiology	7314	UBB	ORPHA:99772
HP:0012638	Abnormal nervous system physiology	57822	GRHL3	ORPHA:99772
HP:0012638	Abnormal nervous system physiology	222663	SCUBE3	OMIM:619184
HP:0012638	Abnormal nervous system physiology	374879	ZNF699	OMIM:619488
HP:0012638	Abnormal nervous system physiology	57589	RIC1	ORPHA:199306
HP:0012638	Abnormal nervous system physiology	1739	DLG1	ORPHA:199306
HP:0012638	Abnormal nervous system physiology	999	CDH1	ORPHA:199306
HP:0012638	Abnormal nervous system physiology	1748	DLX4	ORPHA:199306
HP:0012638	Abnormal nervous system physiology	22837	COBLL1	ORPHA:199306
HP:0012638	Abnormal nervous system physiology	54848	ARHGEF38	ORPHA:199306
HP:0012638	Abnormal nervous system physiology	9411	ARHGAP29	ORPHA:199306
HP:0012638	Abnormal nervous system physiology	3786	KCNQ3	ORPHA:306
HP:0012638	Abnormal nervous system physiology	65082	VPS33A	ORPHA:505248
HP:0012638	Abnormal nervous system physiology	84570	COL25A1	ORPHA:1143
HP:0012638	Abnormal nervous system physiology	57222	ERGIC1	ORPHA:1143
HP:0012638	Abnormal nervous system physiology	1173	AP2M1	ORPHA:1942
HP:0012638	Abnormal nervous system physiology	6529	SLC6A1	ORPHA:1942
HP:0012638	Abnormal nervous system physiology	9211	LGI1	ORPHA:101046
HP:0012639	Abnormal nervous system morphology	26235	FBXL4	OMIM:615471
HP:0012639	Abnormal nervous system morphology	51256	TBC1D7	OMIM:248000
HP:0012639	Abnormal nervous system morphology	8294	H4C9	OMIM:619951
HP:0012639	Abnormal nervous system morphology	2737	GLI3	ORPHA:380
HP:0012639	Abnormal nervous system morphology	2737	GLI3	OMIM:175700
HP:0012639	Abnormal nervous system morphology	4867	NPHP1	ORPHA:220497
HP:0012639	Abnormal nervous system morphology	23426	GRIP1	OMIM:617667
HP:0012639	Abnormal nervous system morphology	2670	GFAP	OMIM:203450
HP:0012639	Abnormal nervous system morphology	2670	GFAP	ORPHA:363717
HP:0012639	Abnormal nervous system morphology	25885	POLR1A	OMIM:616462
HP:0012639	Abnormal nervous system morphology	4853	NOTCH2	OMIM:102500
HP:0012639	Abnormal nervous system morphology	4853	NOTCH2	ORPHA:955
HP:0012639	Abnormal nervous system morphology	3339	HSPG2	ORPHA:1865
HP:0012639	Abnormal nervous system morphology	9401	RECQL4	OMIM:218600
HP:0012639	Abnormal nervous system morphology	5528	PPP2R5D	OMIM:616355
HP:0012639	Abnormal nervous system morphology	8036	SHOC2	ORPHA:2701
HP:0012639	Abnormal nervous system morphology	5500	PPP1CB	ORPHA:2701
HP:0012639	Abnormal nervous system morphology	2253	FGF8	ORPHA:93926
HP:0012639	Abnormal nervous system morphology	2253	FGF8	ORPHA:93924
HP:0012639	Abnormal nervous system morphology	2253	FGF8	ORPHA:93925
HP:0012639	Abnormal nervous system morphology	2253	FGF8	ORPHA:220386
HP:0012639	Abnormal nervous system morphology	6496	SIX3	ORPHA:93926
HP:0012639	Abnormal nervous system morphology	6496	SIX3	ORPHA:93924
HP:0012639	Abnormal nervous system morphology	6496	SIX3	ORPHA:93925
HP:0012639	Abnormal nervous system morphology	6496	SIX3	ORPHA:220386
HP:0012639	Abnormal nervous system morphology	7050	TGIF1	ORPHA:93926
HP:0012639	Abnormal nervous system morphology	7050	TGIF1	ORPHA:93924
HP:0012639	Abnormal nervous system morphology	7050	TGIF1	ORPHA:93925
HP:0012639	Abnormal nervous system morphology	7050	TGIF1	ORPHA:220386
HP:0012639	Abnormal nervous system morphology	4838	NODAL	ORPHA:93926
HP:0012639	Abnormal nervous system morphology	4838	NODAL	ORPHA:93924
HP:0012639	Abnormal nervous system morphology	4838	NODAL	ORPHA:93925
HP:0012639	Abnormal nervous system morphology	4838	NODAL	ORPHA:220386
HP:0012639	Abnormal nervous system morphology	6469	SHH	ORPHA:93926
HP:0012639	Abnormal nervous system morphology	6469	SHH	ORPHA:93924
HP:0012639	Abnormal nervous system morphology	6469	SHH	ORPHA:93925
HP:0012639	Abnormal nervous system morphology	6469	SHH	ORPHA:220386
HP:0012639	Abnormal nervous system morphology	7546	ZIC2	ORPHA:93926
HP:0012639	Abnormal nervous system morphology	7546	ZIC2	ORPHA:93924
HP:0012639	Abnormal nervous system morphology	7546	ZIC2	ORPHA:93925
HP:0012639	Abnormal nervous system morphology	7546	ZIC2	OMIM:609637
HP:0012639	Abnormal nervous system morphology	7546	ZIC2	ORPHA:220386
HP:0012639	Abnormal nervous system morphology	2619	GAS1	ORPHA:93926
HP:0012639	Abnormal nervous system morphology	2619	GAS1	ORPHA:93924
HP:0012639	Abnormal nervous system morphology	2619	GAS1	ORPHA:93925
HP:0012639	Abnormal nervous system morphology	2619	GAS1	ORPHA:220386
HP:0012639	Abnormal nervous system morphology	84976	DISP1	ORPHA:93926
HP:0012639	Abnormal nervous system morphology	84976	DISP1	ORPHA:93924
HP:0012639	Abnormal nervous system morphology	84976	DISP1	ORPHA:93925
HP:0012639	Abnormal nervous system morphology	84976	DISP1	ORPHA:220386
HP:0012639	Abnormal nervous system morphology	8928	FOXH1	ORPHA:93926
HP:0012639	Abnormal nervous system morphology	8928	FOXH1	ORPHA:93924
HP:0012639	Abnormal nervous system morphology	8928	FOXH1	ORPHA:93925
HP:0012639	Abnormal nervous system morphology	8928	FOXH1	ORPHA:220386
HP:0012639	Abnormal nervous system morphology	6997	CRIPTO	ORPHA:93926
HP:0012639	Abnormal nervous system morphology	6997	CRIPTO	ORPHA:93924
HP:0012639	Abnormal nervous system morphology	6997	CRIPTO	ORPHA:93925
HP:0012639	Abnormal nervous system morphology	6997	CRIPTO	ORPHA:220386
HP:0012639	Abnormal nervous system morphology	5727	PTCH1	ORPHA:93926
HP:0012639	Abnormal nervous system morphology	5727	PTCH1	ORPHA:93924
HP:0012639	Abnormal nervous system morphology	5727	PTCH1	ORPHA:93925
HP:0012639	Abnormal nervous system morphology	5727	PTCH1	OMIM:610828
HP:0012639	Abnormal nervous system morphology	5727	PTCH1	ORPHA:377
HP:0012639	Abnormal nervous system morphology	5727	PTCH1	OMIM:109400
HP:0012639	Abnormal nervous system morphology	5727	PTCH1	ORPHA:77301
HP:0012639	Abnormal nervous system morphology	5727	PTCH1	ORPHA:220386
HP:0012639	Abnormal nervous system morphology	50937	CDON	ORPHA:93926
HP:0012639	Abnormal nervous system morphology	50937	CDON	ORPHA:93924
HP:0012639	Abnormal nervous system morphology	50937	CDON	ORPHA:93925
HP:0012639	Abnormal nervous system morphology	50937	CDON	ORPHA:220386
HP:0012639	Abnormal nervous system morphology	2260	FGFR1	ORPHA:93924
HP:0012639	Abnormal nervous system morphology	2260	FGFR1	OMIM:101600
HP:0012639	Abnormal nervous system morphology	2260	FGFR1	OMIM:613001
HP:0012639	Abnormal nervous system morphology	2260	FGFR1	ORPHA:220386
HP:0012639	Abnormal nervous system morphology	10735	STAG2	ORPHA:93925
HP:0012639	Abnormal nervous system morphology	10735	STAG2	ORPHA:220386
HP:0012639	Abnormal nervous system morphology	3039	HBA1	ORPHA:163596
HP:0012639	Abnormal nervous system morphology	3040	HBA2	ORPHA:163596
HP:0012639	Abnormal nervous system morphology	63901	FAM111A	OMIM:602361
HP:0012639	Abnormal nervous system morphology	1499	CTNNB1	ORPHA:54595
HP:0012639	Abnormal nervous system morphology	3981	LIG4	ORPHA:235
HP:0012639	Abnormal nervous system morphology	54888	NSUN2	ORPHA:235
HP:0012639	Abnormal nervous system morphology	5034	P4HB	OMIM:112240
HP:0012639	Abnormal nervous system morphology	55621	TRMT1	OMIM:618302
HP:0012639	Abnormal nervous system morphology	1182	CLCN3	OMIM:619512
HP:0012639	Abnormal nervous system morphology	54539	NDUFB11	OMIM:309801
HP:0012639	Abnormal nervous system morphology	54539	NDUFB11	ORPHA:2556
HP:0012639	Abnormal nervous system morphology	3052	HCCS	OMIM:309801
HP:0012639	Abnormal nervous system morphology	3052	HCCS	ORPHA:2556
HP:0012639	Abnormal nervous system morphology	55699	IARS2	OMIM:616007
HP:0012639	Abnormal nervous system morphology	7547	ZIC3	OMIM:314390
HP:0012639	Abnormal nervous system morphology	7547	ZIC3	OMIM:306955
HP:0012639	Abnormal nervous system morphology	30813	VSX1	OMIM:614195
HP:0012639	Abnormal nervous system morphology	2263	FGFR2	OMIM:123790
HP:0012639	Abnormal nervous system morphology	2263	FGFR2	OMIM:101200
HP:0012639	Abnormal nervous system morphology	2263	FGFR2	OMIM:123500
HP:0012639	Abnormal nervous system morphology	2263	FGFR2	ORPHA:207
HP:0012639	Abnormal nervous system morphology	2263	FGFR2	OMIM:101600
HP:0012639	Abnormal nervous system morphology	2263	FGFR2	ORPHA:87
HP:0012639	Abnormal nervous system morphology	2263	FGFR2	ORPHA:93259
HP:0012639	Abnormal nervous system morphology	2263	FGFR2	OMIM:207410
HP:0012639	Abnormal nervous system morphology	2263	FGFR2	ORPHA:1555
HP:0012639	Abnormal nervous system morphology	2683	B4GALT1	ORPHA:79332
HP:0012639	Abnormal nervous system morphology	2683	B4GALT1	OMIM:607091
HP:0012639	Abnormal nervous system morphology	8643	PTCH2	ORPHA:377
HP:0012639	Abnormal nervous system morphology	54941	RNF125	OMIM:616260
HP:0012639	Abnormal nervous system morphology	79989	IFT56	OMIM:619534
HP:0012639	Abnormal nervous system morphology	79641	ROGDI	ORPHA:1946
HP:0012639	Abnormal nervous system morphology	81839	VANGL1	OMIM:600145
HP:0012639	Abnormal nervous system morphology	81839	VANGL1	OMIM:182940
HP:0012639	Abnormal nervous system morphology	3897	L1CAM	OMIM:304100
HP:0012639	Abnormal nervous system morphology	3897	L1CAM	OMIM:307000
HP:0012639	Abnormal nervous system morphology	3897	L1CAM	ORPHA:2182
HP:0012639	Abnormal nervous system morphology	3897	L1CAM	OMIM:303350
HP:0012639	Abnormal nervous system morphology	51645	PPIL1	OMIM:619301
HP:0012639	Abnormal nervous system morphology	51362	CDC40	OMIM:619302
HP:0012639	Abnormal nervous system morphology	5881	RAC3	OMIM:618577
HP:0012639	Abnormal nervous system morphology	133686	NADK2	OMIM:616034
HP:0012639	Abnormal nervous system morphology	7046	TGFBR1	OMIM:609192
HP:0012639	Abnormal nervous system morphology	835	CASP2	OMIM:620653
HP:0012639	Abnormal nervous system morphology	8905	AP1S2	OMIM:304340
HP:0012639	Abnormal nervous system morphology	8905	AP1S2	ORPHA:85335
HP:0012639	Abnormal nervous system morphology	1801	DPH1	ORPHA:459061
HP:0012639	Abnormal nervous system morphology	1802	DPH2	ORPHA:459061
HP:0012639	Abnormal nervous system morphology	51422	PRKAG2	OMIM:261740
HP:0012639	Abnormal nervous system morphology	6091	ROBO1	OMIM:620305
HP:0012639	Abnormal nervous system morphology	84320	ACBD6	OMIM:620785
HP:0012639	Abnormal nervous system morphology	6347	CCL2	OMIM:182940
HP:0012639	Abnormal nervous system morphology	80199	FUZ	OMIM:182940
HP:0012639	Abnormal nervous system morphology	6862	TBXT	OMIM:182940
HP:0012639	Abnormal nervous system morphology	29887	SNX10	ORPHA:667
HP:0012639	Abnormal nervous system morphology	128869	PIGU	OMIM:618590
HP:0012639	Abnormal nervous system morphology	4967	OGDH	ORPHA:31
HP:0012639	Abnormal nervous system morphology	6299	SALL1	OMIM:107480
HP:0012639	Abnormal nervous system morphology	9871	SEC24D	OMIM:616294
HP:0012639	Abnormal nervous system morphology	8882	ZPR1	OMIM:619321
HP:0012639	Abnormal nervous system morphology	7248	TSC1	ORPHA:538
HP:0012639	Abnormal nervous system morphology	7249	TSC2	ORPHA:538
HP:0012639	Abnormal nervous system morphology	79068	FTO	OMIM:612938
HP:0012639	Abnormal nervous system morphology	56975	FAM20C	OMIM:259775
HP:0012639	Abnormal nervous system morphology	4784	NFIX	OMIM:602535
HP:0012639	Abnormal nervous system morphology	57551	TAOK1	OMIM:619575
HP:0012639	Abnormal nervous system morphology	340665	CYP26C1	ORPHA:398189
HP:0012639	Abnormal nervous system morphology	5831	PYCR1	OMIM:612940
HP:0012639	Abnormal nervous system morphology	2077	ERF	ORPHA:207
HP:0012639	Abnormal nervous system morphology	1312	COMT	ORPHA:567
HP:0012639	Abnormal nervous system morphology	221037	JMJD1C	ORPHA:567
HP:0012639	Abnormal nervous system morphology	2812	GP1BB	ORPHA:567
HP:0012639	Abnormal nervous system morphology	6239	RREB1	ORPHA:567
HP:0012639	Abnormal nervous system morphology	6899	TBX1	ORPHA:567
HP:0012639	Abnormal nervous system morphology	7290	HIRA	ORPHA:567
HP:0012639	Abnormal nervous system morphology	9632	SEC24C	ORPHA:567
HP:0012639	Abnormal nervous system morphology	7353	UFD1	ORPHA:567
HP:0012639	Abnormal nervous system morphology	421	ARVCF	ORPHA:567
HP:0012639	Abnormal nervous system morphology	79770	TXNDC15	ORPHA:564
HP:0012639	Abnormal nervous system morphology	23258	DENND5A	OMIM:617281
HP:0012639	Abnormal nervous system morphology	10013	HDAC6	OMIM:300863
HP:0012639	Abnormal nervous system morphology	10013	HDAC6	ORPHA:163966
HP:0012639	Abnormal nervous system morphology	84065	TMEM222	OMIM:619470
HP:0012639	Abnormal nervous system morphology	54809	SAMD9	OMIM:617053
HP:0012639	Abnormal nervous system morphology	145173	B3GLCT	OMIM:261540
HP:0012639	Abnormal nervous system morphology	145173	B3GLCT	ORPHA:709
HP:0012639	Abnormal nervous system morphology	4534	MTM1	OMIM:310400
HP:0012639	Abnormal nervous system morphology	10682	EBP	OMIM:300960
HP:0012639	Abnormal nervous system morphology	10682	EBP	ORPHA:401973
HP:0012639	Abnormal nervous system morphology	55640	FLVCR2	OMIM:225790
HP:0012639	Abnormal nervous system morphology	3516	RBPJ	ORPHA:974
HP:0012639	Abnormal nervous system morphology	4851	NOTCH1	ORPHA:974
HP:0012639	Abnormal nervous system morphology	57514	ARHGAP31	ORPHA:974
HP:0012639	Abnormal nervous system morphology	57572	DOCK6	ORPHA:974
HP:0012639	Abnormal nervous system morphology	57572	DOCK6	OMIM:614219
HP:0012639	Abnormal nervous system morphology	285203	EOGT	ORPHA:974
HP:0012639	Abnormal nervous system morphology	23387	SIK3	OMIM:618162
HP:0012639	Abnormal nervous system morphology	26137	ZBTB20	ORPHA:3042
HP:0012639	Abnormal nervous system morphology	55898	UNC45A	OMIM:619377
HP:0012639	Abnormal nervous system morphology	6913	TBX15	OMIM:260660
HP:0012639	Abnormal nervous system morphology	1496	CTNNA2	OMIM:618174
HP:0012639	Abnormal nervous system morphology	8085	KMT2D	OMIM:147920
HP:0012639	Abnormal nervous system morphology	8085	KMT2D	ORPHA:2322
HP:0012639	Abnormal nervous system morphology	7403	KDM6A	OMIM:147920
HP:0012639	Abnormal nervous system morphology	7403	KDM6A	ORPHA:2322
HP:0012639	Abnormal nervous system morphology	10262	SF3B4	OMIM:154400
HP:0012639	Abnormal nervous system morphology	894	CCND2	ORPHA:83473
HP:0012639	Abnormal nervous system morphology	894	CCND2	OMIM:615938
HP:0012639	Abnormal nervous system morphology	5296	PIK3R2	ORPHA:83473
HP:0012639	Abnormal nervous system morphology	5296	PIK3R2	OMIM:603387
HP:0012639	Abnormal nervous system morphology	10992	SF3B2	OMIM:164210
HP:0012639	Abnormal nervous system morphology	5447	POR	ORPHA:95699
HP:0012639	Abnormal nervous system morphology	5447	POR	OMIM:207410
HP:0012639	Abnormal nervous system morphology	501	ALDH7A1	OMIM:266100
HP:0012639	Abnormal nervous system morphology	22858	CILK1	OMIM:612651
HP:0012639	Abnormal nervous system morphology	29072	SETD2	OMIM:620157
HP:0012639	Abnormal nervous system morphology	29072	SETD2	OMIM:620155
HP:0012639	Abnormal nervous system morphology	26153	KIF26A	OMIM:620156
HP:0012639	Abnormal nervous system morphology	93627	TBCK	OMIM:616900
HP:0012639	Abnormal nervous system morphology	114034	TOE1	OMIM:614969
HP:0012639	Abnormal nervous system morphology	83550	GPR101	ORPHA:963
HP:0012639	Abnormal nervous system morphology	9049	AIP	ORPHA:963
HP:0012639	Abnormal nervous system morphology	5340	PLG	ORPHA:722
HP:0012639	Abnormal nervous system morphology	5340	PLG	OMIM:217090
HP:0012639	Abnormal nervous system morphology	1717	DHCR7	OMIM:270400
HP:0012639	Abnormal nervous system morphology	55697	VAC14	ORPHA:3472
HP:0012639	Abnormal nervous system morphology	3265	HRAS	OMIM:218040
HP:0012639	Abnormal nervous system morphology	2200	FBN1	OMIM:616914
HP:0012639	Abnormal nervous system morphology	5063	PAK3	OMIM:300558
HP:0012639	Abnormal nervous system morphology	64327	LMBR1	ORPHA:2378
HP:0012639	Abnormal nervous system morphology	4519	MT-CYB	ORPHA:137675
HP:0012639	Abnormal nervous system morphology	11128	POLR3A	OMIM:264090
HP:0012639	Abnormal nervous system morphology	11128	POLR3A	ORPHA:3455
HP:0012639	Abnormal nervous system morphology	4094	MAF	ORPHA:1272
HP:0012639	Abnormal nervous system morphology	2050	EPHB4	ORPHA:137667
HP:0012639	Abnormal nervous system morphology	3662	IRF4	ORPHA:3452
HP:0012639	Abnormal nervous system morphology	6949	TCOF1	OMIM:154500
HP:0012639	Abnormal nervous system morphology	440193	CCDC88C	OMIM:236600
HP:0012639	Abnormal nervous system morphology	7048	TGFBR2	OMIM:610168
HP:0012639	Abnormal nervous system morphology	701	BUB1B	OMIM:257300
HP:0012639	Abnormal nervous system morphology	157570	ESCO2	OMIM:268300
HP:0012639	Abnormal nervous system morphology	84667	HES7	OMIM:613686
HP:0012639	Abnormal nervous system morphology	51134	CEP83	OMIM:615862
HP:0012639	Abnormal nervous system morphology	2719	GPC3	OMIM:312870
HP:0012639	Abnormal nervous system morphology	2239	GPC4	OMIM:312870
HP:0012639	Abnormal nervous system morphology	63895	PIEZO2	ORPHA:2461
HP:0012639	Abnormal nervous system morphology	579	NKX3-2	OMIM:613330
HP:0012639	Abnormal nervous system morphology	26160	IFT172	OMIM:615630
HP:0012639	Abnormal nervous system morphology	7473	WNT3	ORPHA:3301
HP:0012639	Abnormal nervous system morphology	7473	WNT3	OMIM:273395
HP:0012639	Abnormal nervous system morphology	340419	RSPO2	ORPHA:3301
HP:0012639	Abnormal nervous system morphology	9496	TBX4	ORPHA:3301
HP:0012639	Abnormal nervous system morphology	411	ARSB	OMIM:253200
HP:0012639	Abnormal nervous system morphology	4854	NOTCH3	OMIM:130720
HP:0012639	Abnormal nervous system morphology	4750	NEK1	OMIM:252100
HP:0012639	Abnormal nervous system morphology	6657	SOX2	ORPHA:77298
HP:0012639	Abnormal nervous system morphology	5604	MAP2K1	ORPHA:1340
HP:0012639	Abnormal nervous system morphology	5605	MAP2K2	ORPHA:1340
HP:0012639	Abnormal nervous system morphology	1063	CENPF	OMIM:243605
HP:0012639	Abnormal nervous system morphology	64093	SMOC1	ORPHA:1106
HP:0012639	Abnormal nervous system morphology	124997	WDR81	OMIM:617967
HP:0012639	Abnormal nervous system morphology	80781	COL18A1	ORPHA:1571
HP:0012639	Abnormal nervous system morphology	5062	PAK2	ORPHA:1571
HP:0012639	Abnormal nervous system morphology	4758	NEU1	ORPHA:93400
HP:0012639	Abnormal nervous system morphology	64840	PORCN	OMIM:305600
HP:0012639	Abnormal nervous system morphology	7874	USP7	ORPHA:500055
HP:0012639	Abnormal nervous system morphology	9791	PTDSS1	ORPHA:2658
HP:0012639	Abnormal nervous system morphology	23040	MYT1L	OMIM:616521
HP:0012639	Abnormal nervous system morphology	112752	IFT43	OMIM:617866
HP:0012639	Abnormal nervous system morphology	3110	MNX1	ORPHA:1552
HP:0012639	Abnormal nervous system morphology	139285	AMER1	OMIM:300373
HP:0012639	Abnormal nervous system morphology	6497	SKI	OMIM:182212
HP:0012639	Abnormal nervous system morphology	26503	SLC17A5	OMIM:269920
HP:0012639	Abnormal nervous system morphology	2990	GUSB	OMIM:253220
HP:0012639	Abnormal nervous system morphology	8243	SMC1A	ORPHA:220386
HP:0012639	Abnormal nervous system morphology	2639	GCDH	OMIM:231670
HP:0012639	Abnormal nervous system morphology	9469	CHST3	OMIM:245600
HP:0012639	Abnormal nervous system morphology	26229	B3GAT3	OMIM:245600
HP:0012639	Abnormal nervous system morphology	5052	PRDX1	OMIM:277400
HP:0012639	Abnormal nervous system morphology	1139	CHRNA7	ORPHA:199318
HP:0012639	Abnormal nervous system morphology	51569	UFM1	OMIM:617899
HP:0012639	Abnormal nervous system morphology	6228	RPS23	OMIM:617412
HP:0012639	Abnormal nervous system morphology	7360	UGP2	OMIM:618744
HP:0012639	Abnormal nervous system morphology	79029	AFG2B	OMIM:619616
HP:0012639	Abnormal nervous system morphology	10111	RAD50	OMIM:613078
HP:0012639	Abnormal nervous system morphology	55681	SCYL2	OMIM:618766
HP:0012639	Abnormal nervous system morphology	89910	UBE3B	ORPHA:2707
HP:0012639	Abnormal nervous system morphology	89910	UBE3B	OMIM:244450
HP:0012639	Abnormal nervous system morphology	51633	OTUD6B	OMIM:617452
HP:0012639	Abnormal nervous system morphology	51633	OTUD6B	ORPHA:505237
HP:0012639	Abnormal nervous system morphology	2904	GRIN2B	OMIM:616139
HP:0012639	Abnormal nervous system morphology	2904	GRIN2B	OMIM:613970
HP:0012639	Abnormal nervous system morphology	79971	WLS	OMIM:619648
HP:0012639	Abnormal nervous system morphology	54916	TMEM260	OMIM:617478
HP:0012639	Abnormal nervous system morphology	4733	DRG1	OMIM:620641
HP:0012639	Abnormal nervous system morphology	7873	MANF	OMIM:620651
HP:0012639	Abnormal nervous system morphology	3480	IGF1R	ORPHA:73273
HP:0012639	Abnormal nervous system morphology	3480	IGF1R	OMIM:270450
HP:0012639	Abnormal nervous system morphology	3479	IGF1	ORPHA:73272
HP:0012639	Abnormal nervous system morphology	3479	IGF1	OMIM:608747
HP:0012639	Abnormal nervous system morphology	3155	HMGCL	ORPHA:20
HP:0012639	Abnormal nervous system morphology	3155	HMGCL	OMIM:246450
HP:0012639	Abnormal nervous system morphology	4598	MVK	ORPHA:29
HP:0012639	Abnormal nervous system morphology	4598	MVK	OMIM:610377
HP:0012639	Abnormal nervous system morphology	23516	SLC39A14	OMIM:617013
HP:0012639	Abnormal nervous system morphology	27125	AFF4	ORPHA:444077
HP:0012639	Abnormal nervous system morphology	27125	AFF4	OMIM:616368
HP:0012639	Abnormal nervous system morphology	23114	NFASC	OMIM:618356
HP:0012639	Abnormal nervous system morphology	154881	KCTD7	OMIM:611726
HP:0012639	Abnormal nervous system morphology	154881	KCTD7	ORPHA:263516
HP:0012639	Abnormal nervous system morphology	55777	MBD5	OMIM:156200
HP:0012639	Abnormal nervous system morphology	55777	MBD5	ORPHA:228402
HP:0012639	Abnormal nervous system morphology	2334	AFF2	OMIM:309548
HP:0012639	Abnormal nervous system morphology	7703	PCGF2	OMIM:618371
HP:0012639	Abnormal nervous system morphology	27316	RBMX	OMIM:309555
HP:0012639	Abnormal nervous system morphology	8802	SUCLG1	ORPHA:17
HP:0012639	Abnormal nervous system morphology	51729	WBP11	OMIM:619227
HP:0012639	Abnormal nervous system morphology	2707	GJB3	ORPHA:317
HP:0012639	Abnormal nervous system morphology	2531	KDSR	ORPHA:317
HP:0012639	Abnormal nervous system morphology	127534	GJB4	ORPHA:317
HP:0012639	Abnormal nervous system morphology	83480	PUS3	OMIM:617051
HP:0012639	Abnormal nervous system morphology	9757	KMT2B	ORPHA:589618
HP:0012639	Abnormal nervous system morphology	9757	KMT2B	OMIM:619934
HP:0012639	Abnormal nervous system morphology	9757	KMT2B	OMIM:617284
HP:0012639	Abnormal nervous system morphology	84265	POLR3GL	OMIM:619234
HP:0012639	Abnormal nervous system morphology	134218	DNAJC21	OMIM:617052
HP:0012639	Abnormal nervous system morphology	7204	TRIO	OMIM:617061
HP:0012639	Abnormal nervous system morphology	23112	TNRC6B	OMIM:619243
HP:0012639	Abnormal nervous system morphology	201595	STT3B	ORPHA:370924
HP:0012639	Abnormal nervous system morphology	201595	STT3B	OMIM:615597
HP:0012639	Abnormal nervous system morphology	10436	EMG1	OMIM:211180
HP:0012639	Abnormal nervous system morphology	10436	EMG1	ORPHA:1270
HP:0012639	Abnormal nervous system morphology	6748	SSR4	ORPHA:370927
HP:0012639	Abnormal nervous system morphology	6748	SSR4	OMIM:300934
HP:0012639	Abnormal nervous system morphology	10084	PQBP1	OMIM:309500
HP:0012639	Abnormal nervous system morphology	10084	PQBP1	ORPHA:93950
HP:0012639	Abnormal nervous system morphology	10084	PQBP1	ORPHA:93946
HP:0012639	Abnormal nervous system morphology	10084	PQBP1	ORPHA:93947
HP:0012639	Abnormal nervous system morphology	8242	KDM5C	ORPHA:85279
HP:0012639	Abnormal nervous system morphology	8242	KDM5C	OMIM:300534
HP:0012639	Abnormal nervous system morphology	89970	RSPRY1	ORPHA:457395
HP:0012639	Abnormal nervous system morphology	89970	RSPRY1	OMIM:616723
HP:0012639	Abnormal nervous system morphology	54187	NANS	OMIM:610442
HP:0012639	Abnormal nervous system morphology	1968	EIF2S3	ORPHA:85282
HP:0012639	Abnormal nervous system morphology	1968	EIF2S3	OMIM:300148
HP:0012639	Abnormal nervous system morphology	64131	XYLT1	ORPHA:370930
HP:0012639	Abnormal nervous system morphology	64131	XYLT1	OMIM:615777
HP:0012639	Abnormal nervous system morphology	25886	POC1A	OMIM:614813
HP:0012639	Abnormal nervous system morphology	5138	PDE2A	OMIM:619150
HP:0012639	Abnormal nervous system morphology	128	ADH5	OMIM:619151
HP:0012639	Abnormal nervous system morphology	26960	NBEA	OMIM:619157
HP:0012639	Abnormal nervous system morphology	613	BCR	ORPHA:261330
HP:0012639	Abnormal nervous system morphology	1399	CRKL	ORPHA:261330
HP:0012639	Abnormal nervous system morphology	5594	MAPK1	ORPHA:261330
HP:0012639	Abnormal nervous system morphology	5594	MAPK1	OMIM:619087
HP:0012639	Abnormal nervous system morphology	2314	FLII	ORPHA:819
HP:0012639	Abnormal nervous system morphology	23096	IQSEC2	ORPHA:819
HP:0012639	Abnormal nervous system morphology	10522	DEAF1	ORPHA:819
HP:0012639	Abnormal nervous system morphology	10522	DEAF1	ORPHA:468620
HP:0012639	Abnormal nervous system morphology	150468	CKAP2L	ORPHA:3255
HP:0012639	Abnormal nervous system morphology	150468	CKAP2L	OMIM:272440
HP:0012639	Abnormal nervous system morphology	3242	HPD	OMIM:140350
HP:0012639	Abnormal nervous system morphology	338657	CENATAC	OMIM:620153
HP:0012639	Abnormal nervous system morphology	25778	DSTYK	OMIM:270750
HP:0012639	Abnormal nervous system morphology	56992	KIF15	ORPHA:261323
HP:0012639	Abnormal nervous system morphology	56992	KIF15	OMIM:619981
HP:0012639	Abnormal nervous system morphology	4718	NDUFC2	OMIM:619170
HP:0012639	Abnormal nervous system morphology	1738	DLD	ORPHA:2394
HP:0012639	Abnormal nervous system morphology	1738	DLD	OMIM:246900
HP:0012639	Abnormal nervous system morphology	92579	G6PC3	OMIM:612541
HP:0012639	Abnormal nervous system morphology	222663	SCUBE3	OMIM:619184
HP:0012639	Abnormal nervous system morphology	54084	TSPEAR	OMIM:620173
HP:0012639	Abnormal nervous system morphology	84720	PIGO	OMIM:614749
HP:0012639	Abnormal nervous system morphology	3675	ITGA3	OMIM:614748
HP:0012639	Abnormal nervous system morphology	8379	MAD1L1	OMIM:620189
HP:0012639	Abnormal nervous system morphology	23137	SMC5	OMIM:620185
HP:0012639	Abnormal nervous system morphology	55343	SLC35C1	OMIM:266265
HP:0012639	Abnormal nervous system morphology	55343	SLC35C1	ORPHA:99843
HP:0012639	Abnormal nervous system morphology	81887	LAS1L	OMIM:309585
HP:0012639	Abnormal nervous system morphology	545	ATR	ORPHA:808
HP:0012639	Abnormal nervous system morphology	545	ATR	OMIM:210600
HP:0012639	Abnormal nervous system morphology	79902	NUP85	ORPHA:808
HP:0012639	Abnormal nervous system morphology	84126	ATRIP	ORPHA:808
HP:0012639	Abnormal nervous system morphology	51567	TDP2	OMIM:616949
HP:0012639	Abnormal nervous system morphology	9894	TELO2	OMIM:616954
HP:0012639	Abnormal nervous system morphology	56052	ALG1	OMIM:608540
HP:0012639	Abnormal nervous system morphology	10075	HUWE1	OMIM:309590
HP:0012639	Abnormal nervous system morphology	60529	ALX4	OMIM:613451
HP:0012639	Abnormal nervous system morphology	9759	HDAC4	ORPHA:1001
HP:0012639	Abnormal nervous system morphology	1806	DPYD	OMIM:274270
HP:0012639	Abnormal nervous system morphology	1806	DPYD	ORPHA:1675
HP:0012639	Abnormal nervous system morphology	3097	HIVEP2	OMIM:616977
HP:0012639	Abnormal nervous system morphology	9837	GINS1	OMIM:617827
HP:0012639	Abnormal nervous system morphology	79840	NHEJ1	ORPHA:169079
HP:0012639	Abnormal nervous system morphology	197131	UBR1	ORPHA:2315
HP:0012639	Abnormal nervous system morphology	197131	UBR1	OMIM:243800
HP:0012639	Abnormal nervous system morphology	5723	PSPH	ORPHA:79350
HP:0012639	Abnormal nervous system morphology	5723	PSPH	OMIM:614023
HP:0012639	Abnormal nervous system morphology	55180	LINS1	OMIM:614340
HP:0012639	Abnormal nervous system morphology	80152	CENPT	OMIM:618702
HP:0012639	Abnormal nervous system morphology	6697	SPR	ORPHA:70594
HP:0012639	Abnormal nervous system morphology	6697	SPR	OMIM:612716
HP:0012639	Abnormal nervous system morphology	953	ENTPD1	OMIM:615683
HP:0012639	Abnormal nervous system morphology	953	ENTPD1	ORPHA:401810
HP:0012639	Abnormal nervous system morphology	54802	TRIT1	OMIM:617873
HP:0012639	Abnormal nervous system morphology	55733	HHAT	ORPHA:1422
HP:0012639	Abnormal nervous system morphology	55733	HHAT	OMIM:600092
HP:0012639	Abnormal nervous system morphology	84700	MYO18B	OMIM:616549
HP:0012639	Abnormal nervous system morphology	2182	ACSL4	OMIM:300387
HP:0012639	Abnormal nervous system morphology	51763	INPP5K	OMIM:617404
HP:0012639	Abnormal nervous system morphology	246329	STAC3	OMIM:255995
HP:0012639	Abnormal nervous system morphology	3703	STT3A	OMIM:615596
HP:0012639	Abnormal nervous system morphology	3703	STT3A	OMIM:619714
HP:0012639	Abnormal nervous system morphology	3703	STT3A	ORPHA:370921
HP:0012639	Abnormal nervous system morphology	1947	EFNB1	ORPHA:1520
HP:0012639	Abnormal nervous system morphology	81857	MED25	OMIM:616449
HP:0012639	Abnormal nervous system morphology	81857	MED25	ORPHA:464738
HP:0012639	Abnormal nervous system morphology	4047	LSS	ORPHA:2850
HP:0012639	Abnormal nervous system morphology	4047	LSS	OMIM:618840
HP:0012639	Abnormal nervous system morphology	197	AHSG	ORPHA:2850
HP:0012639	Abnormal nervous system morphology	3694	ITGB6	ORPHA:2850
HP:0012639	Abnormal nervous system morphology	6536	SLC6A9	OMIM:617301
HP:0012639	Abnormal nervous system morphology	28960	DCPS	OMIM:616459
HP:0012639	Abnormal nervous system morphology	10559	SLC35A1	OMIM:603585
HP:0012639	Abnormal nervous system morphology	80153	EDC3	OMIM:616460
HP:0012639	Abnormal nervous system morphology	91869	RFT1	ORPHA:244310
HP:0012639	Abnormal nervous system morphology	91869	RFT1	OMIM:612015
HP:0012639	Abnormal nervous system morphology	816	CAMK2B	OMIM:617799
HP:0012639	Abnormal nervous system morphology	815	CAMK2A	OMIM:617798
HP:0012639	Abnormal nervous system morphology	23184	MESD	OMIM:618644
HP:0012639	Abnormal nervous system morphology	55109	AGGF1	ORPHA:90308
HP:0012639	Abnormal nervous system morphology	2626	GATA4	ORPHA:251071
HP:0012639	Abnormal nervous system morphology	1501	CTNND2	ORPHA:281
HP:0012639	Abnormal nervous system morphology	9037	SEMA5A	ORPHA:281
HP:0012639	Abnormal nervous system morphology	26057	ANKRD17	OMIM:619504
HP:0012639	Abnormal nervous system morphology	55623	THUMPD1	OMIM:619989
HP:0012639	Abnormal nervous system morphology	57167	SALL4	ORPHA:233
HP:0012639	Abnormal nervous system morphology	9935	MAFB	ORPHA:233
HP:0012639	Abnormal nervous system morphology	1123	CHN1	ORPHA:233
HP:0012639	Abnormal nervous system morphology	7862	BRPF1	OMIM:617333
HP:0012639	Abnormal nervous system morphology	286	ANK1	ORPHA:251066
HP:0012639	Abnormal nervous system morphology	5860	QDPR	ORPHA:226
HP:0012639	Abnormal nervous system morphology	5860	QDPR	OMIM:261630
HP:0012639	Abnormal nervous system morphology	7385	UQCRC2	OMIM:615160
HP:0012639	Abnormal nervous system morphology	6621	SNAPC4	OMIM:620515
HP:0012639	Abnormal nervous system morphology	57104	PNPLA2	OMIM:610717
HP:0012639	Abnormal nervous system morphology	9922	IQSEC1	OMIM:618687
HP:0012639	Abnormal nervous system morphology	57479	PRR12	OMIM:619539
HP:0012639	Abnormal nervous system morphology	1173	AP2M1	ORPHA:1942
HP:0012639	Abnormal nervous system morphology	340533	NEXMIF	ORPHA:1942
HP:0012639	Abnormal nervous system morphology	29893	PSMC3IP	ORPHA:243
HP:0012639	Abnormal nervous system morphology	171568	POLR3H	ORPHA:243
HP:0012639	Abnormal nervous system morphology	2516	NR5A1	ORPHA:243
HP:0012639	Abnormal nervous system morphology	125150	ZSWIM7	ORPHA:243
HP:0012639	Abnormal nervous system morphology	9210	BMP15	ORPHA:243
HP:0012639	Abnormal nervous system morphology	23514	SPIDR	ORPHA:243
HP:0012639	Abnormal nervous system morphology	2492	FSHR	ORPHA:243
HP:0012639	Abnormal nervous system morphology	646	BNC1	ORPHA:243
HP:0012639	Abnormal nervous system morphology	4438	MSH4	ORPHA:243
HP:0012639	Abnormal nervous system morphology	8621	CDK13	OMIM:617360
HP:0012639	Abnormal nervous system morphology	5587	PRKD1	OMIM:617364
HP:0012639	Abnormal nervous system morphology	54808	DYM	ORPHA:239
HP:0012639	Abnormal nervous system morphology	54808	DYM	OMIM:223800
HP:0012639	Abnormal nervous system morphology	54808	DYM	OMIM:607326
HP:0012639	Abnormal nervous system morphology	2627	GATA6	OMIM:600001
HP:0012639	Abnormal nervous system morphology	4695	NDUFA2	OMIM:618235
HP:0012639	Abnormal nervous system morphology	8260	NAA10	OMIM:300855
HP:0012639	Abnormal nervous system morphology	8260	NAA10	ORPHA:568
HP:0012639	Abnormal nervous system morphology	8260	NAA10	OMIM:309800
HP:0012639	Abnormal nervous system morphology	92344	GORAB	OMIM:231070
HP:0012639	Abnormal nervous system morphology	6898	TAT	ORPHA:28378
HP:0012639	Abnormal nervous system morphology	80324	PUS1	OMIM:600462
HP:0012639	Abnormal nervous system morphology	80324	PUS1	ORPHA:2598
HP:0012639	Abnormal nervous system morphology	10524	KAT5	OMIM:619103
HP:0012639	Abnormal nervous system morphology	9451	EIF2AK3	OMIM:226980
HP:0012639	Abnormal nervous system morphology	9451	EIF2AK3	ORPHA:1667
HP:0012639	Abnormal nervous system morphology	5000	ORC4	OMIM:613800
HP:0012639	Abnormal nervous system morphology	5000	ORC4	ORPHA:2554
HP:0012639	Abnormal nervous system morphology	81620	CDT1	OMIM:613804
HP:0012639	Abnormal nervous system morphology	81620	CDT1	ORPHA:2554
HP:0012639	Abnormal nervous system morphology	23594	ORC6	OMIM:613803
HP:0012639	Abnormal nervous system morphology	23594	ORC6	ORPHA:2554
HP:0012639	Abnormal nervous system morphology	990	CDC6	OMIM:613805
HP:0012639	Abnormal nervous system morphology	990	CDC6	ORPHA:2554
HP:0012639	Abnormal nervous system morphology	10847	SRCAP	OMIM:619595
HP:0012639	Abnormal nervous system morphology	55526	DHTKD1	OMIM:204750
HP:0012639	Abnormal nervous system morphology	90416	CCDC32	OMIM:619123
HP:0012639	Abnormal nervous system morphology	9895	TECPR2	ORPHA:320385
HP:0012639	Abnormal nervous system morphology	9895	TECPR2	OMIM:615031
HP:0012639	Abnormal nervous system morphology	3739	KCNA4	OMIM:618284
HP:0012639	Abnormal nervous system morphology	55835	CPAP	OMIM:608393
HP:0012639	Abnormal nervous system morphology	55835	CPAP	OMIM:613676
HP:0012639	Abnormal nervous system morphology	57680	CHD8	ORPHA:261229
HP:0012639	Abnormal nervous system morphology	3763	KCNJ6	ORPHA:435628
HP:0012639	Abnormal nervous system morphology	3763	KCNJ6	OMIM:614098
HP:0012639	Abnormal nervous system morphology	341640	FREM2	ORPHA:2052
HP:0012639	Abnormal nervous system morphology	1636	ACE	OMIM:267430
HP:0012639	Abnormal nervous system morphology	183	AGT	OMIM:267430
HP:0012639	Abnormal nervous system morphology	185	AGTR1	OMIM:267430
HP:0012639	Abnormal nervous system morphology	5972	REN	OMIM:267430
HP:0012639	Abnormal nervous system morphology	5689	PSMB1	OMIM:620038
HP:0012639	Abnormal nervous system morphology	23431	AP4E1	OMIM:613744
HP:0012639	Abnormal nervous system morphology	23431	AP4E1	ORPHA:280763
HP:0012639	Abnormal nervous system morphology	10472	ZBTB18	ORPHA:36367
HP:0012639	Abnormal nervous system morphology	10472	ZBTB18	OMIM:612337
HP:0012639	Abnormal nervous system morphology	63908	NAPB	OMIM:620033
HP:0012639	Abnormal nervous system morphology	7298	TYMS	OMIM:620040
HP:0012639	Abnormal nervous system morphology	514	ATP5F1E	ORPHA:254913
HP:0012639	Abnormal nervous system morphology	513	ATP5F1D	ORPHA:254913
HP:0012639	Abnormal nervous system morphology	84833	ATP5MK	ORPHA:254913
HP:0012639	Abnormal nervous system morphology	91647	ATPAF2	ORPHA:254913
HP:0012639	Abnormal nervous system morphology	91647	ATPAF2	OMIM:604273
HP:0012639	Abnormal nervous system morphology	100131801	PET100	OMIM:619055
HP:0012639	Abnormal nervous system morphology	7080	NKX2-1	ORPHA:209905
HP:0012639	Abnormal nervous system morphology	259232	NALCN	ORPHA:562528
HP:0012639	Abnormal nervous system morphology	259232	NALCN	OMIM:615419
HP:0012639	Abnormal nervous system morphology	259232	NALCN	ORPHA:371364
HP:0012639	Abnormal nervous system morphology	4212	MEIS2	OMIM:600987
HP:0012639	Abnormal nervous system morphology	4212	MEIS2	ORPHA:261190
HP:0012639	Abnormal nervous system morphology	92667	MGME1	ORPHA:352447
HP:0012639	Abnormal nervous system morphology	92667	MGME1	OMIM:615084
HP:0012639	Abnormal nervous system morphology	55027	HEATR3	OMIM:620072
HP:0012639	Abnormal nervous system morphology	55027	HEATR3	ORPHA:124
HP:0012639	Abnormal nervous system morphology	5700	PSMC1	OMIM:620071
HP:0012639	Abnormal nervous system morphology	92154	MTSS2	OMIM:620086
HP:0012639	Abnormal nervous system morphology	197322	ACSF3	ORPHA:289504
HP:0012639	Abnormal nervous system morphology	2703	GJA8	OMIM:612474
HP:0012639	Abnormal nervous system morphology	2702	GJA5	OMIM:612474
HP:0012639	Abnormal nervous system morphology	10664	CTCF	OMIM:615502
HP:0012639	Abnormal nervous system morphology	10664	CTCF	ORPHA:363611
HP:0012639	Abnormal nervous system morphology	6307	MSMO1	OMIM:616834
HP:0012639	Abnormal nervous system morphology	1828	DSG1	OMIM:615508
HP:0012639	Abnormal nervous system morphology	3720	JARID2	OMIM:620098
HP:0012639	Abnormal nervous system morphology	549	AUH	ORPHA:67046
HP:0012639	Abnormal nervous system morphology	55784	MCTP2	ORPHA:1596
HP:0012639	Abnormal nervous system morphology	55997	CFC1	OMIM:605376
HP:0012639	Abnormal nervous system morphology	26224	FBXL3	OMIM:606220
HP:0012639	Abnormal nervous system morphology	80185	TTI2	OMIM:615541
HP:0012639	Abnormal nervous system morphology	80185	TTI2	ORPHA:391307
HP:0012639	Abnormal nervous system morphology	2464	FRA16E	OMIM:136570
HP:0012639	Abnormal nervous system morphology	23443	SLC35A3	OMIM:615553
HP:0012639	Abnormal nervous system morphology	6925	TCF4	ORPHA:2896
HP:0012639	Abnormal nervous system morphology	6925	TCF4	OMIM:610954
HP:0012639	Abnormal nervous system morphology	54805	CNNM2	OMIM:616418
HP:0012639	Abnormal nervous system morphology	6591	SNAI2	ORPHA:2884
HP:0012639	Abnormal nervous system morphology	10717	AP4B1	ORPHA:280763
HP:0012639	Abnormal nervous system morphology	10717	AP4B1	OMIM:614066
HP:0012639	Abnormal nervous system morphology	11154	AP4S1	ORPHA:280763
HP:0012639	Abnormal nervous system morphology	11154	AP4S1	OMIM:614067
HP:0012639	Abnormal nervous system morphology	9320	TRIP12	OMIM:617752
HP:0012639	Abnormal nervous system morphology	1663	DDX11	OMIM:613398
HP:0012639	Abnormal nervous system morphology	2186	BPTF	OMIM:617755
HP:0012639	Abnormal nervous system morphology	6777	STAT5B	OMIM:618985
HP:0012639	Abnormal nervous system morphology	5927	KDM5A	OMIM:620820
HP:0012639	Abnormal nervous system morphology	65993	MRPS34	OMIM:617664
HP:0012639	Abnormal nervous system morphology	80816	ASXL3	OMIM:615485
HP:0012639	Abnormal nervous system morphology	80816	ASXL3	ORPHA:352577
HP:0012639	Abnormal nervous system morphology	8942	KYNU	OMIM:617661
HP:0012639	Abnormal nervous system morphology	3149	HMGB3	OMIM:300915
HP:0012639	Abnormal nervous system morphology	288	ANK3	OMIM:615493
HP:0012639	Abnormal nervous system morphology	7994	KAT6A	ORPHA:457193
HP:0012639	Abnormal nervous system morphology	7994	KAT6A	OMIM:616268
HP:0012639	Abnormal nervous system morphology	8550	MAPKAPK5	OMIM:619869
HP:0012639	Abnormal nervous system morphology	788	SLC25A20	ORPHA:159
HP:0012639	Abnormal nervous system morphology	8558	CDK10	OMIM:617694
HP:0012639	Abnormal nervous system morphology	51692	CPSF3	OMIM:619876
HP:0012639	Abnormal nervous system morphology	5590	PRKCZ	ORPHA:1606
HP:0012639	Abnormal nervous system morphology	2563	GABRD	ORPHA:1606
HP:0012639	Abnormal nervous system morphology	8510	MMP23B	ORPHA:1606
HP:0012639	Abnormal nervous system morphology	7798	LUZP1	ORPHA:1606
HP:0012639	Abnormal nervous system morphology	10630	PDPN	ORPHA:1606
HP:0012639	Abnormal nervous system morphology	10277	UBE4B	ORPHA:1606
HP:0012639	Abnormal nervous system morphology	8514	KCNAB2	ORPHA:1606
HP:0012639	Abnormal nervous system morphology	63976	PRDM16	ORPHA:1606
HP:0012639	Abnormal nervous system morphology	54897	CASZ1	ORPHA:1606
HP:0012639	Abnormal nervous system morphology	83479	DDX59	ORPHA:2919
HP:0012639	Abnormal nervous system morphology	83479	DDX59	OMIM:174300
HP:0012639	Abnormal nervous system morphology	56098	PCDHGC4	OMIM:619880
HP:0012639	Abnormal nervous system morphology	4285	MIPEP	OMIM:617228
HP:0012639	Abnormal nervous system morphology	641	BLM	OMIM:210900
HP:0012639	Abnormal nervous system morphology	374969	SVBP	OMIM:618569
HP:0012639	Abnormal nervous system morphology	84295	PHF6	ORPHA:127
HP:0012639	Abnormal nervous system morphology	84295	PHF6	OMIM:301900
HP:0012639	Abnormal nervous system morphology	6138	RPL15	ORPHA:124
HP:0012639	Abnormal nervous system morphology	6165	RPL35A	ORPHA:124
HP:0012639	Abnormal nervous system morphology	6132	RPL8	ORPHA:124
HP:0012639	Abnormal nervous system morphology	6223	RPS19	ORPHA:124
HP:0012639	Abnormal nervous system morphology	6223	RPS19	OMIM:105650
HP:0012639	Abnormal nervous system morphology	6232	RPS27	ORPHA:124
HP:0012639	Abnormal nervous system morphology	6160	RPL31	ORPHA:124
HP:0012639	Abnormal nervous system morphology	6201	RPS7	ORPHA:124
HP:0012639	Abnormal nervous system morphology	6155	RPL27	ORPHA:124
HP:0012639	Abnormal nervous system morphology	6234	RPS28	ORPHA:124
HP:0012639	Abnormal nervous system morphology	6135	RPL11	ORPHA:124
HP:0012639	Abnormal nervous system morphology	6229	RPS24	ORPHA:124
HP:0012639	Abnormal nervous system morphology	6125	RPL5	ORPHA:124
HP:0012639	Abnormal nervous system morphology	6204	RPS10	ORPHA:124
HP:0012639	Abnormal nervous system morphology	2623	GATA1	ORPHA:124
HP:0012639	Abnormal nervous system morphology	6133	RPL9	ORPHA:124
HP:0012639	Abnormal nervous system morphology	6231	RPS26	ORPHA:124
HP:0012639	Abnormal nervous system morphology	11224	RPL35	ORPHA:124
HP:0012639	Abnormal nervous system morphology	6218	RPS17	ORPHA:124
HP:0012639	Abnormal nervous system morphology	6154	RPL26	ORPHA:124
HP:0012639	Abnormal nervous system morphology	6210	RPS15A	ORPHA:124
HP:0012639	Abnormal nervous system morphology	90121	TSR2	ORPHA:124
HP:0012639	Abnormal nervous system morphology	6141	RPL18	ORPHA:124
HP:0012639	Abnormal nervous system morphology	6235	RPS29	ORPHA:124
HP:0012639	Abnormal nervous system morphology	51574	LARP7	OMIM:615071
HP:0012639	Abnormal nervous system morphology	286053	NSMCE2	OMIM:617253
HP:0012639	Abnormal nervous system morphology	84894	LINGO1	OMIM:618103
HP:0012639	Abnormal nervous system morphology	123606	NIPA1	ORPHA:261183
HP:0012639	Abnormal nervous system morphology	7283	TUBG1	ORPHA:261183
HP:0012639	Abnormal nervous system morphology	7283	TUBG1	OMIM:615412
HP:0012639	Abnormal nervous system morphology	81614	NIPA2	ORPHA:261183
HP:0012639	Abnormal nervous system morphology	8473	OGT	OMIM:300997
HP:0012639	Abnormal nervous system morphology	6418	SET	OMIM:618106
HP:0012639	Abnormal nervous system morphology	1120	CHKB	OMIM:602541
HP:0012639	Abnormal nervous system morphology	3778	KCNMA1	OMIM:618596
HP:0012639	Abnormal nervous system morphology	5053	PAH	OMIM:261600
HP:0012639	Abnormal nervous system morphology	5053	PAH	ORPHA:79254
HP:0012639	Abnormal nervous system morphology	5053	PAH	ORPHA:2209
HP:0012639	Abnormal nervous system morphology	114803	MYSM1	OMIM:618116
HP:0012639	Abnormal nervous system morphology	4041	LRP5	OMIM:259770
HP:0012639	Abnormal nervous system morphology	4041	LRP5	ORPHA:891
HP:0012639	Abnormal nervous system morphology	51132	RLIM	OMIM:300978
HP:0012639	Abnormal nervous system morphology	4998	ORC1	OMIM:224690
HP:0012639	Abnormal nervous system morphology	4998	ORC1	ORPHA:2554
HP:0012639	Abnormal nervous system morphology	27341	RRP7A	OMIM:619453
HP:0012639	Abnormal nervous system morphology	3376	IARS1	ORPHA:541423
HP:0012639	Abnormal nervous system morphology	9675	TTI1	OMIM:620445
HP:0012639	Abnormal nervous system morphology	54880	BCOR	ORPHA:568
HP:0012639	Abnormal nervous system morphology	54880	BCOR	OMIM:300166
HP:0012639	Abnormal nervous system morphology	54880	BCOR	OMIM:309800
HP:0012639	Abnormal nervous system morphology	6874	TAF4	OMIM:620450
HP:0012639	Abnormal nervous system morphology	10526	IPO8	OMIM:619472
HP:0012639	Abnormal nervous system morphology	55651	NHP2	OMIM:224230
HP:0012639	Abnormal nervous system morphology	7227	TRPS1	ORPHA:502
HP:0012639	Abnormal nervous system morphology	60676	PAPPA2	OMIM:619489
HP:0012639	Abnormal nervous system morphology	407975	MIR17HG	ORPHA:391646
HP:0012639	Abnormal nervous system morphology	55599	RNPC3	OMIM:618160
HP:0012639	Abnormal nervous system morphology	63899	NSUN3	OMIM:619012
HP:0012639	Abnormal nervous system morphology	2193	FARSA	OMIM:619013
HP:0012639	Abnormal nervous system morphology	5557	PRIM1	OMIM:620005
HP:0012639	Abnormal nervous system morphology	64432	MRPS25	OMIM:619025
HP:0012639	Abnormal nervous system morphology	84842	HPDL	OMIM:619026
HP:0012639	Abnormal nervous system morphology	123263	MTFMT	OMIM:614947
HP:0012639	Abnormal nervous system morphology	10225	CD96	OMIM:211750
HP:0012639	Abnormal nervous system morphology	10225	CD96	ORPHA:1308
HP:0012639	Abnormal nervous system morphology	23325	WASHC4	OMIM:615817
HP:0012639	Abnormal nervous system morphology	7156	TOP3A	OMIM:618097
HP:0012639	Abnormal nervous system morphology	1009	CDH11	ORPHA:1299
HP:0012639	Abnormal nervous system morphology	10056	FARSB	OMIM:613658
HP:0012639	Abnormal nervous system morphology	54499	TMCO1	OMIM:213980
HP:0012639	Abnormal nervous system morphology	5422	POLA1	ORPHA:163976
HP:0012639	Abnormal nervous system morphology	5422	POLA1	OMIM:301030
HP:0012639	Abnormal nervous system morphology	55275	VPS53	OMIM:615851
HP:0012639	Abnormal nervous system morphology	51067	YARS2	ORPHA:2598
HP:0012639	Abnormal nervous system morphology	2245	FGD1	OMIM:305400
HP:0012639	Abnormal nervous system morphology	5648	MASP1	OMIM:257920
HP:0012639	Abnormal nervous system morphology	26115	TANC2	OMIM:618906
HP:0012639	Abnormal nervous system morphology	54101	RIPK4	ORPHA:1234
HP:0012639	Abnormal nervous system morphology	10982	MAPRE2	OMIM:616734
HP:0012639	Abnormal nervous system morphology	10982	MAPRE2	ORPHA:2505
HP:0012639	Abnormal nervous system morphology	3176	HNMT	OMIM:616739
HP:0012639	Abnormal nervous system morphology	3759	KCNJ2	OMIM:170390
HP:0012639	Abnormal nervous system morphology	8318	CDC45	ORPHA:2554
HP:0012639	Abnormal nervous system morphology	84172	POLR1B	OMIM:618939
HP:0012639	Abnormal nervous system morphology	1861	TOR1A	OMIM:618947
HP:0012639	Abnormal nervous system morphology	51520	LARS1	OMIM:615438
HP:0012639	Abnormal nervous system morphology	55617	TASP1	OMIM:618950
HP:0012639	Abnormal nervous system morphology	60528	ELAC2	OMIM:615440
HP:0012639	Abnormal nervous system morphology	28957	MRPS28	OMIM:618958
HP:0012639	Abnormal nervous system morphology	7991	TUSC3	OMIM:611093
HP:0012639	Abnormal nervous system morphology	1804	DPP6	ORPHA:2514
HP:0012639	Abnormal nervous system morphology	1804	DPP6	OMIM:616311
HP:0012639	Abnormal nervous system morphology	8192	CLPP	OMIM:614129
HP:0012639	Abnormal nervous system morphology	1146	CHRNG	ORPHA:2990
HP:0012639	Abnormal nervous system morphology	10973	ASCC3	OMIM:620700
HP:0012639	Abnormal nervous system morphology	3020	H3-3A	OMIM:619720
HP:0012639	Abnormal nervous system morphology	3021	H3-3B	OMIM:619721
HP:0012639	Abnormal nervous system morphology	4056	LTC4S	OMIM:614037
HP:0012639	Abnormal nervous system morphology	72	ACTG2	ORPHA:2604
HP:0012639	Abnormal nervous system morphology	137492	VPS37A	ORPHA:319199
HP:0012639	Abnormal nervous system morphology	2590	GALNT2	OMIM:618885
HP:0012639	Abnormal nervous system morphology	9698	PUM1	OMIM:620719
HP:0012639	Abnormal nervous system morphology	51319	RSRC1	OMIM:618402
HP:0012639	Abnormal nervous system morphology	23761	PISD	OMIM:618889
HP:0012639	Abnormal nervous system morphology	7020	TFAP2A	OMIM:113620
HP:0012639	Abnormal nervous system morphology	5442	POLRMT	OMIM:619743
HP:0012639	Abnormal nervous system morphology	4297	KMT2A	ORPHA:319182
HP:0012639	Abnormal nervous system morphology	4297	KMT2A	OMIM:605130
HP:0012639	Abnormal nervous system morphology	339983	NAT8L	OMIM:614063
HP:0012639	Abnormal nervous system morphology	8879	SGPL1	OMIM:617575
HP:0012639	Abnormal nervous system morphology	8364	H4C3	OMIM:619758
HP:0012639	Abnormal nervous system morphology	145258	GSC	OMIM:602471
HP:0012639	Abnormal nervous system morphology	53335	BCL11A	OMIM:617101
HP:0012639	Abnormal nervous system morphology	54487	DGCR8	OMIM:192430
HP:0012639	Abnormal nervous system morphology	8214	DGCR6	OMIM:192430
HP:0012639	Abnormal nervous system morphology	8220	ESS2	OMIM:192430
HP:0012639	Abnormal nervous system morphology	9993	DGCR2	OMIM:192430
HP:0012639	Abnormal nervous system morphology	10463	SLC30A9	OMIM:617595
HP:0012639	Abnormal nervous system morphology	221078	NSUN6	OMIM:620779
HP:0012639	Abnormal nervous system morphology	27145	FILIP1	OMIM:620775
HP:0012639	Abnormal nervous system morphology	9900	SV2A	OMIM:620772
HP:0012639	Abnormal nervous system morphology	51728	POLR3K	OMIM:619310
HP:0012639	Abnormal nervous system morphology	6650	CAPN15	OMIM:619318
HP:0012639	Abnormal nervous system morphology	10073	SNUPN	OMIM:620793
HP:0012639	Abnormal nervous system morphology	2530	FUT8	OMIM:618005
HP:0012639	Abnormal nervous system morphology	372	ARCN1	OMIM:617164
HP:0012639	Abnormal nervous system morphology	54681	P4HTM	OMIM:618493
HP:0012639	Abnormal nervous system morphology	5283	PIGH	OMIM:618010
HP:0012639	Abnormal nervous system morphology	9343	EFTUD2	OMIM:610536
HP:0012639	Abnormal nervous system morphology	668	FOXL2	OMIM:110100
HP:0012639	Abnormal nervous system morphology	37	ACADVL	OMIM:201475
HP:0012639	Abnormal nervous system morphology	5281	PIGF	OMIM:619356
HP:0012639	Abnormal nervous system morphology	10681	GNB5	OMIM:617182
HP:0012639	Abnormal nervous system morphology	23554	TSPAN12	ORPHA:891
HP:0012639	Abnormal nervous system morphology	79797	ZNF408	ORPHA:891
HP:0012639	Abnormal nervous system morphology	8322	FZD4	ORPHA:891
HP:0012639	Abnormal nervous system morphology	10295	BCKDK	OMIM:614923
HP:0012639	Abnormal nervous system morphology	11011	TLK2	OMIM:618050
HP:0012639	Abnormal nervous system morphology	5965	RECQL	OMIM:620370
HP:0012639	Abnormal nervous system morphology	267	AMFR	OMIM:620379
HP:0012639	Abnormal nervous system morphology	4702	NDUFA8	OMIM:619272
HP:0012639	Abnormal nervous system morphology	81555	YIPF5	OMIM:619278
HP:0012639	Abnormal nervous system morphology	36	ACADSB	OMIM:610006
HP:0012639	Abnormal nervous system morphology	8546	AP3B1	OMIM:608233
HP:0012639	Abnormal nervous system morphology	51199	NIN	OMIM:614851
HP:0012639	Abnormal nervous system morphology	51199	NIN	ORPHA:319675
HP:0012639	Abnormal nervous system morphology	197257	LDHD	OMIM:245450
HP:0012639	Abnormal nervous system morphology	375748	ERCC6L2	OMIM:615715
HP:0012639	Abnormal nervous system morphology	93210	PGAP3	OMIM:615716
HP:0012639	Abnormal nervous system morphology	162417	NAGS	ORPHA:927
HP:0012639	Abnormal nervous system morphology	867	CBL	OMIM:613563
HP:0012639	Abnormal nervous system morphology	7507	XPA	ORPHA:910
HP:0012639	Abnormal nervous system morphology	7507	XPA	OMIM:278700
HP:0012639	Abnormal nervous system morphology	7508	XPC	ORPHA:910
HP:0012639	Abnormal nervous system morphology	1643	DDB2	ORPHA:910
HP:0012639	Abnormal nervous system morphology	4173	MCM4	OMIM:609981
HP:0012639	Abnormal nervous system morphology	79631	EFL1	OMIM:617941
HP:0012639	Abnormal nervous system morphology	5429	POLH	OMIM:278750
HP:0012639	Abnormal nervous system morphology	20	ABCA2	OMIM:618808
HP:0012639	Abnormal nervous system morphology	175	AGA	OMIM:208400
HP:0012639	Abnormal nervous system morphology	9419	CRIPT	OMIM:615789
HP:0012639	Abnormal nervous system morphology	2584	GALK1	ORPHA:79237
HP:0012639	Abnormal nervous system morphology	56270	WDR45B	OMIM:617977
HP:0012639	Abnormal nervous system morphology	54870	QRICH1	OMIM:617982
HP:0012639	Abnormal nervous system morphology	23397	NCAPH	OMIM:617985
HP:0012639	Abnormal nervous system morphology	54676	GTPBP2	OMIM:617988
HP:0012639	Abnormal nervous system morphology	158326	FREM1	OMIM:614485
HP:0012639	Abnormal nervous system morphology	9203	ZMYM3	OMIM:301111
HP:0012639	Abnormal nervous system morphology	23133	PHF8	OMIM:300263
HP:0012639	Abnormal nervous system morphology	23001	WDFY3	OMIM:617520
HP:0012639	Abnormal nervous system morphology	35	ACADS	ORPHA:26792
HP:0012639	Abnormal nervous system morphology	55753	OGDHL	OMIM:619701
HP:0012639	Abnormal nervous system morphology	51660	MPC1	OMIM:614741
HP:0012639	Abnormal nervous system morphology	54862	CC2D1A	OMIM:608443
HP:0012639	Abnormal nervous system morphology	203190	LGI3	OMIM:620007
HP:0012639	Abnormal nervous system morphology	22827	PUF60	ORPHA:508498
HP:0012639	Abnormal nervous system morphology	22827	PUF60	ORPHA:508488
HP:0012639	Abnormal nervous system morphology	22827	PUF60	OMIM:615583
HP:0012639	Abnormal nervous system morphology	3145	HMBS	OMIM:620704
HP:0012639	Abnormal nervous system morphology	220	ALDH1A3	OMIM:615113
HP:0012639	Abnormal nervous system morphology	775	CACNA1C	OMIM:620029
HP:0012639	Abnormal nervous system morphology	84282	RNF135	ORPHA:137634
HP:0012639	Abnormal nervous system morphology	55605	KIF21A	ORPHA:45358
HP:0012639	Abnormal nervous system morphology	401	PHOX2A	ORPHA:45358
HP:0012639	Abnormal nervous system morphology	84570	COL25A1	ORPHA:45358
HP:0012639	Abnormal nervous system morphology	51807	TUBA8	ORPHA:250972
HP:0012639	Abnormal nervous system morphology	8854	ALDH1A2	OMIM:620025
HP:0012639	Abnormal nervous system morphology	11267	SNF8	OMIM:620783
HP:0012639	Abnormal nervous system morphology	256297	PTF1A	OMIM:609069
HP:0012639	Abnormal nervous system morphology	256297	PTF1A	ORPHA:65288
HP:0012639	Abnormal nervous system morphology	55593	OTUD5	OMIM:301056
HP:0012639	Abnormal nervous system morphology	8443	GNPAT	OMIM:222765
HP:0012639	Abnormal nervous system morphology	473	RERE	OMIM:616975
HP:0012639	Abnormal nervous system morphology	10730	YME1L1	OMIM:617302
HP:0012639	Abnormal nervous system morphology	25914	RTTN	OMIM:614833
HP:0012639	Abnormal nervous system morphology	25914	RTTN	ORPHA:468631
HP:0012639	Abnormal nervous system morphology	5080	PAX6	OMIM:165550
HP:0012639	Abnormal nervous system morphology	5080	PAX6	ORPHA:250923
HP:0012639	Abnormal nervous system morphology	5080	PAX6	OMIM:106210
HP:0012639	Abnormal nervous system morphology	23499	MACF1	ORPHA:572013
HP:0012639	Abnormal nervous system morphology	387119	CEP85L	ORPHA:572013
HP:0012639	Abnormal nervous system morphology	10157	AASS	OMIM:238700
HP:0012639	Abnormal nervous system morphology	64121	RRAGC	OMIM:620609
HP:0012639	Abnormal nervous system morphology	25930	PTPN23	OMIM:618890
HP:0012639	Abnormal nervous system morphology	132158	GLYCTK	OMIM:220120
HP:0012639	Abnormal nervous system morphology	4990	SIX6	OMIM:206900
HP:0012639	Abnormal nervous system morphology	64864	RFX7	OMIM:620330
HP:0012639	Abnormal nervous system morphology	8820	HESX1	OMIM:182230
HP:0012639	Abnormal nervous system morphology	8820	HESX1	ORPHA:226307
HP:0012639	Abnormal nervous system morphology	8820	HESX1	ORPHA:95494
HP:0012639	Abnormal nervous system morphology	8820	HESX1	ORPHA:3157
HP:0012639	Abnormal nervous system morphology	50801	KCNK4	OMIM:618381
HP:0012639	Abnormal nervous system morphology	23259	DDHD2	OMIM:615033
HP:0012639	Abnormal nervous system morphology	2296	FOXC1	ORPHA:250923
HP:0012639	Abnormal nervous system morphology	54765	TRIM44	ORPHA:250923
HP:0012639	Abnormal nervous system morphology	7737	RNF113A	OMIM:300953
HP:0012639	Abnormal nervous system morphology	5626	PROP1	ORPHA:226307
HP:0012639	Abnormal nervous system morphology	5626	PROP1	ORPHA:95494
HP:0012639	Abnormal nervous system morphology	89884	LHX4	ORPHA:226307
HP:0012639	Abnormal nervous system morphology	89884	LHX4	ORPHA:95494
HP:0012639	Abnormal nervous system morphology	8022	LHX3	ORPHA:226307
HP:0012639	Abnormal nervous system morphology	5449	POU1F1	ORPHA:226307
HP:0012639	Abnormal nervous system morphology	5449	POU1F1	ORPHA:95494
HP:0012639	Abnormal nervous system morphology	2550	GABBR1	OMIM:620502
HP:0012639	Abnormal nervous system morphology	8405	SPOP	OMIM:618828
HP:0012639	Abnormal nervous system morphology	5293	PIK3CD	ORPHA:221139
HP:0012639	Abnormal nervous system morphology	90417	KNSTRN	ORPHA:221139
HP:0012639	Abnormal nervous system morphology	415	ARSL	ORPHA:79345
HP:0012639	Abnormal nervous system morphology	3170	FOXA2	ORPHA:95494
HP:0012639	Abnormal nervous system morphology	2222	FDFT1	OMIM:618156
HP:0012639	Abnormal nervous system morphology	29123	ANKRD11	ORPHA:261250
HP:0012639	Abnormal nervous system morphology	2893	GRIA4	OMIM:617864
HP:0012639	Abnormal nervous system morphology	4081	MAB21L1	ORPHA:495875
HP:0012639	Abnormal nervous system morphology	7543	ZFX	OMIM:301118
HP:0012639	Abnormal nervous system morphology	7545	ZIC1	OMIM:618736
HP:0012639	Abnormal nervous system morphology	128674	PROKR2	ORPHA:3157
HP:0012639	Abnormal nervous system morphology	9915	ARNT2	ORPHA:3157
HP:0012639	Abnormal nervous system morphology	79718	TBL1XR1	OMIM:602342
HP:0012639	Abnormal nervous system morphology	2318	FLNC	OMIM:609524
HP:0012639	Abnormal nervous system morphology	538	ATP7A	OMIM:300489
HP:0012639	Abnormal nervous system morphology	79087	ALG12	ORPHA:79324
HP:0012639	Abnormal nervous system morphology	23064	SETX	OMIM:602433
HP:0012639	Abnormal nervous system morphology	79628	SH3TC2	OMIM:601596
HP:0012639	Abnormal nervous system morphology	54332	GDAP1	OMIM:607706
HP:0012639	Abnormal nervous system morphology	54332	GDAP1	OMIM:214400
HP:0012639	Abnormal nervous system morphology	54332	GDAP1	ORPHA:101097
HP:0012639	Abnormal nervous system morphology	10801	SEPTIN9	OMIM:162100
HP:0012639	Abnormal nervous system morphology	9150	CTDP1	OMIM:604168
HP:0012639	Abnormal nervous system morphology	215	ABCD1	ORPHA:139399
HP:0012639	Abnormal nervous system morphology	2705	GJB1	OMIM:302800
HP:0012639	Abnormal nervous system morphology	54902	TTC19	OMIM:615157
HP:0012639	Abnormal nervous system morphology	54840	APTX	OMIM:208920
HP:0012639	Abnormal nervous system morphology	90678	LRSAM1	OMIM:614436
HP:0012639	Abnormal nervous system morphology	3508	IGHMBP2	OMIM:604320
HP:0012639	Abnormal nervous system morphology	1785	DNM2	OMIM:606482
HP:0012639	Abnormal nervous system morphology	6909	TBX2	OMIM:618223
HP:0012639	Abnormal nervous system morphology	5122	PCSK1	ORPHA:71528
HP:0012639	Abnormal nervous system morphology	5443	POMC	ORPHA:71526
HP:0012639	Abnormal nervous system morphology	5443	POMC	OMIM:609734
HP:0012639	Abnormal nervous system morphology	9581	PREPL	OMIM:616224
HP:0012639	Abnormal nervous system morphology	5308	PITX2	OMIM:180500
HP:0012639	Abnormal nervous system morphology	7840	ALMS1	OMIM:203800
HP:0012639	Abnormal nervous system morphology	7840	ALMS1	ORPHA:64
HP:0012639	Abnormal nervous system morphology	9056	SLC7A7	ORPHA:470
HP:0012639	Abnormal nervous system morphology	2887	GRB10	ORPHA:96182
HP:0012639	Abnormal nervous system morphology	60401	EDA2R	ORPHA:181
HP:0012639	Abnormal nervous system morphology	1896	EDA	ORPHA:181
HP:0012639	Abnormal nervous system morphology	8626	TP63	ORPHA:1896
HP:0012639	Abnormal nervous system morphology	81848	SPRY4	ORPHA:478
HP:0012639	Abnormal nervous system morphology	23767	FLRT3	ORPHA:478
HP:0012639	Abnormal nervous system morphology	79625	NDNF	ORPHA:478
HP:0012639	Abnormal nervous system morphology	389549	FEZF1	ORPHA:478
HP:0012639	Abnormal nervous system morphology	54756	IL17RD	ORPHA:478
HP:0012639	Abnormal nervous system morphology	285025	CCDC141	ORPHA:478
HP:0012639	Abnormal nervous system morphology	1848	DUSP6	ORPHA:478
HP:0012639	Abnormal nervous system morphology	6870	TACR3	ORPHA:478
HP:0012639	Abnormal nervous system morphology	8822	FGF17	ORPHA:478
HP:0012639	Abnormal nervous system morphology	3973	LHCGR	OMIM:238320
HP:0012639	Abnormal nervous system morphology	2099	ESR1	ORPHA:785
HP:0012639	Abnormal nervous system morphology	6736	SRY	ORPHA:1772
HP:0012639	Abnormal nervous system morphology	6736	SRY	ORPHA:251510
HP:0012639	Abnormal nervous system morphology	6845	VAMP7	ORPHA:251510
HP:0012639	Abnormal nervous system morphology	4214	MAP3K1	ORPHA:251510
HP:0012639	Abnormal nervous system morphology	23414	ZFPM2	ORPHA:251510
HP:0012639	Abnormal nervous system morphology	190	NR0B1	ORPHA:251510
HP:0012639	Abnormal nervous system morphology	56154	TEX15	ORPHA:399805
HP:0012639	Abnormal nervous system morphology	6875	TAF4B	ORPHA:399805
HP:0012639	Abnormal nervous system morphology	254528	MEIOB	ORPHA:399805
HP:0012639	Abnormal nervous system morphology	10734	STAG3	ORPHA:399805
HP:0012639	Abnormal nervous system morphology	145645	TERB2	ORPHA:399805
HP:0012639	Abnormal nervous system morphology	54967	CT55	ORPHA:399805
HP:0012639	Abnormal nervous system morphology	4439	MSH5	ORPHA:399805
HP:0012639	Abnormal nervous system morphology	283847	TERB1	ORPHA:399805
HP:0012639	Abnormal nervous system morphology	402381	SOHLH1	ORPHA:399805
HP:0012639	Abnormal nervous system morphology	56159	TEX11	ORPHA:399805
HP:0012639	Abnormal nervous system morphology	144132	DNHD1	ORPHA:399805
HP:0012639	Abnormal nervous system morphology	1080	CFTR	ORPHA:399805
HP:0012639	Abnormal nervous system morphology	50511	SYCP3	ORPHA:399805
HP:0012639	Abnormal nervous system morphology	285498	RNF212	ORPHA:399805
HP:0012639	Abnormal nervous system morphology	54456	MOV10L1	ORPHA:399805
HP:0012639	Abnormal nervous system morphology	56155	TEX14	ORPHA:399805
HP:0012639	Abnormal nervous system morphology	91057	CCDC34	ORPHA:399805
HP:0012639	Abnormal nervous system morphology	375307	CATIP	ORPHA:399805
HP:0012639	Abnormal nervous system morphology	196385	DNAH10	ORPHA:399805
HP:0012639	Abnormal nervous system morphology	140801	RPL10L	ORPHA:399805
HP:0012639	Abnormal nervous system morphology	317719	KLHL10	ORPHA:399805
HP:0012639	Abnormal nervous system morphology	200162	SPAG17	ORPHA:399805
HP:0012639	Abnormal nervous system morphology	84225	ZMYND15	ORPHA:399805
HP:0012639	Abnormal nervous system morphology	122402	TDRD9	ORPHA:399805
HP:0012639	Abnormal nervous system morphology	154197	PNLDC1	ORPHA:399805
HP:0012639	Abnormal nervous system morphology	93426	SYCE1	ORPHA:399805
HP:0012639	Abnormal nervous system morphology	340719	NANOS1	ORPHA:399805
HP:0012639	Abnormal nervous system morphology	286151	FBXO43	ORPHA:399805
HP:0012639	Abnormal nervous system morphology	158401	SHOC1	ORPHA:399805
HP:0012639	Abnormal nervous system morphology	5161	PDHA2	ORPHA:399805
HP:0012639	Abnormal nervous system morphology	1586	CYP17A1	ORPHA:90793
HP:0012639	Abnormal nervous system morphology	3248	HPGD	ORPHA:2796
HP:0012639	Abnormal nervous system morphology	6578	SLCO2A1	ORPHA:2796
HP:0012639	Abnormal nervous system morphology	5618	PRLR	OMIM:615555
HP:0012639	Abnormal nervous system morphology	7201	TRHR	ORPHA:99832
HP:0012639	Abnormal nervous system morphology	7252	TSHB	ORPHA:90674
HP:0012639	Abnormal nervous system morphology	3815	KIT	OMIM:606764
HP:0012639	Abnormal nervous system morphology	8314	BAP1	ORPHA:2495
HP:0012639	Abnormal nervous system morphology	6598	SMARCB1	ORPHA:2495
HP:0012639	Abnormal nervous system morphology	84231	TRAF7	ORPHA:2495
HP:0012639	Abnormal nervous system morphology	7015	TERT	ORPHA:2495
HP:0012639	Abnormal nervous system morphology	6605	SMARCE1	ORPHA:2495
HP:0012639	Abnormal nervous system morphology	4035	LRP1	ORPHA:79100
HP:0012639	Abnormal nervous system morphology	10528	NOP56	OMIM:614153
HP:0012639	Abnormal nervous system morphology	10026	PIGK	OMIM:618879
HP:0012639	Abnormal nervous system morphology	146057	TTBK2	OMIM:604432
HP:0012639	Abnormal nervous system morphology	343641	TGM6	ORPHA:276193
HP:0012639	Abnormal nervous system morphology	343641	TGM6	OMIM:613908
HP:0012639	Abnormal nervous system morphology	146227	BEAN1	ORPHA:217012
HP:0012639	Abnormal nervous system morphology	146227	BEAN1	OMIM:117210
HP:0012639	Abnormal nervous system morphology	6548	SLC9A1	OMIM:616291
HP:0012639	Abnormal nervous system morphology	25929	GEMIN5	OMIM:619333
HP:0012639	Abnormal nervous system morphology	3746	KCNC1	OMIM:616187
HP:0012639	Abnormal nervous system morphology	51079	NDUFA13	OMIM:618249
HP:0012639	Abnormal nervous system morphology	463	ZFHX3	OMIM:600223
HP:0012639	Abnormal nervous system morphology	1938	EEF2	ORPHA:101112
HP:0012639	Abnormal nervous system morphology	1938	EEF2	OMIM:609306
HP:0012639	Abnormal nervous system morphology	2799	GNS	OMIM:252940
HP:0012639	Abnormal nervous system morphology	383	ARG1	OMIM:207800
HP:0012639	Abnormal nervous system morphology	84274	COQ5	OMIM:619028
HP:0012639	Abnormal nervous system morphology	64858	DCLRE1B	OMIM:620133
HP:0012639	Abnormal nervous system morphology	55129	ANO10	OMIM:613728
HP:0012639	Abnormal nervous system morphology	55129	ANO10	ORPHA:284289
HP:0012639	Abnormal nervous system morphology	4884	NPTX1	OMIM:620158
HP:0012639	Abnormal nervous system morphology	7274	TTPA	ORPHA:96
HP:0012639	Abnormal nervous system morphology	7274	TTPA	OMIM:277460
HP:0012639	Abnormal nervous system morphology	1600	DAB1	OMIM:615945
HP:0012639	Abnormal nervous system morphology	9711	RUBCN	OMIM:615705
HP:0012639	Abnormal nervous system morphology	3752	KCND3	ORPHA:98772
HP:0012639	Abnormal nervous system morphology	3752	KCND3	OMIM:607346
HP:0012639	Abnormal nervous system morphology	255928	SYT14	ORPHA:284271
HP:0012639	Abnormal nervous system morphology	255928	SYT14	OMIM:614229
HP:0012639	Abnormal nervous system morphology	80207	OPA3	ORPHA:67036
HP:0012639	Abnormal nervous system morphology	63035	BCORL1	OMIM:301029
HP:0012639	Abnormal nervous system morphology	5582	PRKCG	OMIM:605361
HP:0012639	Abnormal nervous system morphology	7222	TRPC3	OMIM:616410
HP:0012639	Abnormal nervous system morphology	7515	XRCC1	OMIM:617633
HP:0012639	Abnormal nervous system morphology	2196	FAT2	OMIM:617769
HP:0012639	Abnormal nervous system morphology	3476	IGBP1	OMIM:300472
HP:0012639	Abnormal nervous system morphology	3476	IGBP1	ORPHA:52055
HP:0012639	Abnormal nervous system morphology	1024	CDK8	OMIM:618748
HP:0012639	Abnormal nervous system morphology	2731	GLDC	OMIM:605899
HP:0012639	Abnormal nervous system morphology	116931	MED12L	OMIM:618872
HP:0012639	Abnormal nervous system morphology	2018	EMX2	OMIM:269160
HP:0012639	Abnormal nervous system morphology	55012	PPP2R3C	OMIM:618419
HP:0012639	Abnormal nervous system morphology	51021	MRPS16	OMIM:610498
HP:0012639	Abnormal nervous system morphology	129563	DIS3L2	OMIM:267000
HP:0012639	Abnormal nervous system morphology	64919	BCL11B	OMIM:617237
HP:0012639	Abnormal nervous system morphology	164	AP1G1	OMIM:619548
HP:0012639	Abnormal nervous system morphology	3313	HSPA9	OMIM:616854
HP:0012639	Abnormal nervous system morphology	2657	GDF1	OMIM:208530
HP:0012639	Abnormal nervous system morphology	1583	CYP11A1	ORPHA:289548
HP:0012639	Abnormal nervous system morphology	1583	CYP11A1	ORPHA:168558
HP:0012639	Abnormal nervous system morphology	8092	ALX1	ORPHA:306542
HP:0012639	Abnormal nervous system morphology	26576	SRPK3	OMIM:301134
HP:0012639	Abnormal nervous system morphology	283450	HECTD4	OMIM:620250
HP:0012639	Abnormal nervous system morphology	3106	HLA-B	ORPHA:397
HP:0012639	Abnormal nervous system morphology	3106	HLA-B	ORPHA:117
HP:0012639	Abnormal nervous system morphology	8974	P4HA2	ORPHA:397
HP:0012639	Abnormal nervous system morphology	64170	CARD9	OMIM:212050
HP:0012639	Abnormal nervous system morphology	695	BTK	OMIM:300755
HP:0012639	Abnormal nervous system morphology	695	BTK	ORPHA:47
HP:0012639	Abnormal nervous system morphology	695	BTK	OMIM:307200
HP:0012639	Abnormal nervous system morphology	7454	WAS	ORPHA:906
HP:0012639	Abnormal nervous system morphology	7456	WIPF1	ORPHA:906
HP:0012639	Abnormal nervous system morphology	1493	CTLA4	ORPHA:900
HP:0012639	Abnormal nervous system morphology	3115	HLA-DPB1	ORPHA:900
HP:0012639	Abnormal nervous system morphology	5657	PRTN3	ORPHA:900
HP:0012639	Abnormal nervous system morphology	3113	HLA-DPA1	ORPHA:900
HP:0012639	Abnormal nervous system morphology	1776	DNASE1L3	ORPHA:36412
HP:0012639	Abnormal nervous system morphology	596	BCL2	ORPHA:545
HP:0012639	Abnormal nervous system morphology	3492	IGH	ORPHA:545
HP:0012639	Abnormal nervous system morphology	604	BCL6	ORPHA:545
HP:0012639	Abnormal nervous system morphology	959	CD40LG	OMIM:308230
HP:0012639	Abnormal nervous system morphology	4210	MEFV	ORPHA:342
HP:0012639	Abnormal nervous system morphology	4210	MEFV	OMIM:249100
HP:0012639	Abnormal nervous system morphology	4210	MEFV	ORPHA:117
HP:0012639	Abnormal nervous system morphology	5896	RAG1	OMIM:601457
HP:0012639	Abnormal nervous system morphology	5897	RAG2	OMIM:601457
HP:0012639	Abnormal nervous system morphology	58484	NLRC4	OMIM:616050
HP:0012639	Abnormal nervous system morphology	3718	JAK3	OMIM:600802
HP:0012639	Abnormal nervous system morphology	629	CFB	OMIM:615561
HP:0012639	Abnormal nervous system morphology	3543	IGLL1	OMIM:613500
HP:0012639	Abnormal nervous system morphology	3543	IGLL1	ORPHA:33110
HP:0012639	Abnormal nervous system morphology	8456	FOXN1	ORPHA:83471
HP:0012639	Abnormal nervous system morphology	732	C8B	OMIM:613789
HP:0012639	Abnormal nervous system morphology	114548	NLRP3	OMIM:607115
HP:0012639	Abnormal nervous system morphology	114548	NLRP3	ORPHA:1451
HP:0012639	Abnormal nervous system morphology	51135	IRAK4	OMIM:607676
HP:0012639	Abnormal nervous system morphology	1536	CYBB	ORPHA:379
HP:0012639	Abnormal nervous system morphology	4688	NCF2	ORPHA:379
HP:0012639	Abnormal nervous system morphology	1535	CYBA	ORPHA:379
HP:0012639	Abnormal nervous system morphology	4689	NCF4	ORPHA:379
HP:0012639	Abnormal nervous system morphology	79415	CYBC1	ORPHA:379
HP:0012639	Abnormal nervous system morphology	4068	SH2D1A	OMIM:308240
HP:0012639	Abnormal nervous system morphology	331	XIAP	OMIM:308240
HP:0012639	Abnormal nervous system morphology	2215	FCGR3B	ORPHA:464370
HP:0012639	Abnormal nervous system morphology	115650	TNFRSF13C	OMIM:240500
HP:0012639	Abnormal nervous system morphology	29851	ICOS	OMIM:240500
HP:0012639	Abnormal nervous system morphology	930	CD19	OMIM:240500
HP:0012639	Abnormal nervous system morphology	23495	TNFRSF13B	OMIM:240500
HP:0012639	Abnormal nervous system morphology	1380	CR2	OMIM:240500
HP:0012639	Abnormal nervous system morphology	7037	TFRC	OMIM:616740
HP:0012639	Abnormal nervous system morphology	731	C8A	OMIM:613790
HP:0012639	Abnormal nervous system morphology	57591	MRTFA	OMIM:618847
HP:0012639	Abnormal nervous system morphology	50943	FOXP3	ORPHA:37042
HP:0012639	Abnormal nervous system morphology	10095	ARPC1B	OMIM:617718
HP:0012639	Abnormal nervous system morphology	7852	CXCR4	ORPHA:51636
HP:0012639	Abnormal nervous system morphology	721	C4B	OMIM:614379
HP:0012639	Abnormal nervous system morphology	6688	SPI1	OMIM:619707
HP:0012639	Abnormal nervous system morphology	6688	SPI1	ORPHA:33110
HP:0012639	Abnormal nervous system morphology	6929	TCF3	ORPHA:33110
HP:0012639	Abnormal nervous system morphology	7922	SLC39A7	ORPHA:33110
HP:0012639	Abnormal nervous system morphology	973	CD79A	ORPHA:33110
HP:0012639	Abnormal nervous system morphology	974	CD79B	ORPHA:33110
HP:0012639	Abnormal nervous system morphology	3507	IGHM	ORPHA:33110
HP:0012639	Abnormal nervous system morphology	29760	BLNK	ORPHA:33110
HP:0012639	Abnormal nervous system morphology	5295	PIK3R1	ORPHA:33110
HP:0012639	Abnormal nervous system morphology	56262	LRRC8A	ORPHA:33110
HP:0012639	Abnormal nervous system morphology	149233	IL23R	ORPHA:117
HP:0012639	Abnormal nervous system morphology	6775	STAT4	ORPHA:117
HP:0012639	Abnormal nervous system morphology	3586	IL10	ORPHA:117
HP:0012639	Abnormal nervous system morphology	1230	CCR1	ORPHA:117
HP:0012639	Abnormal nervous system morphology	3592	IL12A	ORPHA:117
HP:0012639	Abnormal nervous system morphology	101928376	IL12A-AS1	ORPHA:117
HP:0012639	Abnormal nervous system morphology	7099	TLR4	ORPHA:117
HP:0012639	Abnormal nervous system morphology	3459	IFNGR1	ORPHA:117
HP:0012639	Abnormal nervous system morphology	720	C4A	ORPHA:117
HP:0012639	Abnormal nervous system morphology	337867	UBAC2	ORPHA:117
HP:0012639	Abnormal nervous system morphology	51752	ERAP1	ORPHA:117
HP:0012639	Abnormal nervous system morphology	8302	KLRC4	ORPHA:117
HP:0012639	Abnormal nervous system morphology	5396	PRRX1	ORPHA:990
HP:0012639	Abnormal nervous system morphology	5015	OTX2	ORPHA:990
HP:0012639	Abnormal nervous system morphology	2697	GJA1	ORPHA:1522
HP:0012639	Abnormal nervous system morphology	56172	ANKH	ORPHA:1522
HP:0012639	Abnormal nervous system morphology	10312	TCIRG1	ORPHA:1782
HP:0012639	Abnormal nervous system morphology	55315	SLC29A3	ORPHA:1782
HP:0012639	Abnormal nervous system morphology	8792	TNFRSF11A	ORPHA:1782
HP:0012639	Abnormal nervous system morphology	64127	NOD2	ORPHA:90340
HP:0012639	Abnormal nervous system morphology	64127	NOD2	OMIM:186580
HP:0012639	Abnormal nervous system morphology	2248	FGF3	ORPHA:90024
HP:0012639	Abnormal nervous system morphology	2776	GNAQ	ORPHA:624
HP:0012639	Abnormal nervous system morphology	9573	GDF3	ORPHA:2345
HP:0012639	Abnormal nervous system morphology	392255	GDF6	ORPHA:2345
HP:0012639	Abnormal nervous system morphology	4222	MEOX1	ORPHA:2345
HP:0012639	Abnormal nervous system morphology	1959	EGR2	OMIM:605253
HP:0012639	Abnormal nervous system morphology	55636	CHD7	ORPHA:138
HP:0012639	Abnormal nervous system morphology	9723	SEMA3E	ORPHA:138
HP:0012639	Abnormal nervous system morphology	4221	MEN1	ORPHA:652
HP:0012639	Abnormal nervous system morphology	1027	CDKN1B	ORPHA:652
HP:0012639	Abnormal nervous system morphology	1026	CDKN1A	ORPHA:652
HP:0012639	Abnormal nervous system morphology	1030	CDKN2B	ORPHA:652
HP:0012639	Abnormal nervous system morphology	1031	CDKN2C	ORPHA:652
HP:0012639	Abnormal nervous system morphology	1186	CLCN7	ORPHA:53
HP:0012639	Abnormal nervous system morphology	1186	CLCN7	ORPHA:210110
HP:0012639	Abnormal nervous system morphology	9842	PLEKHM1	ORPHA:210110
HP:0012639	Abnormal nervous system morphology	7040	TGFB1	OMIM:131300
HP:0012639	Abnormal nervous system morphology	22943	DKK1	ORPHA:268882
HP:0012639	Abnormal nervous system morphology	7428	VHL	ORPHA:29072
HP:0012639	Abnormal nervous system morphology	7428	VHL	ORPHA:276621
HP:0012639	Abnormal nervous system morphology	1743	DLST	ORPHA:29072
HP:0012639	Abnormal nervous system morphology	4191	MDH2	ORPHA:29072
HP:0012639	Abnormal nervous system morphology	5979	RET	ORPHA:29072
HP:0012639	Abnormal nervous system morphology	5979	RET	ORPHA:276621
HP:0012639	Abnormal nervous system morphology	6389	SDHA	ORPHA:29072
HP:0012639	Abnormal nervous system morphology	2271	FH	ORPHA:29072
HP:0012639	Abnormal nervous system morphology	8402	SLC25A11	ORPHA:29072
HP:0012639	Abnormal nervous system morphology	54949	SDHAF2	ORPHA:29072
HP:0012639	Abnormal nervous system morphology	55654	TMEM127	ORPHA:29072
HP:0012639	Abnormal nervous system morphology	4149	MAX	ORPHA:29072
HP:0012639	Abnormal nervous system morphology	1788	DNMT3A	ORPHA:276621
HP:0012639	Abnormal nervous system morphology	2034	EPAS1	ORPHA:276621
HP:0012639	Abnormal nervous system morphology	760	CA2	ORPHA:2785
HP:0012639	Abnormal nervous system morphology	8600	TNFSF11	OMIM:259710
HP:0012639	Abnormal nervous system morphology	6331	SCN5A	OMIM:614022
HP:0012639	Abnormal nervous system morphology	6331	SCN5A	OMIM:601154
HP:0012639	Abnormal nervous system morphology	7148	TNXB	ORPHA:230839
HP:0012639	Abnormal nervous system morphology	5009	OTC	OMIM:311250
HP:0012639	Abnormal nervous system morphology	4625	MYH7	ORPHA:1880
HP:0012639	Abnormal nervous system morphology	2997	GYS1	OMIM:611556
HP:0012639	Abnormal nervous system morphology	7174	TPP2	ORPHA:444463
HP:0012639	Abnormal nervous system morphology	10560	SLC19A2	ORPHA:49827
HP:0012639	Abnormal nervous system morphology	10560	SLC19A2	OMIM:249270
HP:0012639	Abnormal nervous system morphology	11093	ADAMTS13	OMIM:274150
HP:0012639	Abnormal nervous system morphology	9149	DYRK1B	OMIM:615812
HP:0012639	Abnormal nervous system morphology	5346	PLIN1	OMIM:613877
HP:0012639	Abnormal nervous system morphology	55107	ANO1	OMIM:620687
HP:0012639	Abnormal nervous system morphology	2717	GLA	ORPHA:324
HP:0012639	Abnormal nervous system morphology	3291	HSD11B2	ORPHA:320
HP:0012639	Abnormal nervous system morphology	10370	CITED2	ORPHA:99105
HP:0012639	Abnormal nervous system morphology	10370	CITED2	ORPHA:99103
HP:0012639	Abnormal nervous system morphology	1471	CST3	OMIM:105150
HP:0012639	Abnormal nervous system morphology	1471	CST3	ORPHA:100008
HP:0012639	Abnormal nervous system morphology	7092	TLL1	ORPHA:99103
HP:0012639	Abnormal nervous system morphology	57057	TBX20	ORPHA:99103
HP:0012639	Abnormal nervous system morphology	4624	MYH6	ORPHA:99103
HP:0012639	Abnormal nervous system morphology	1482	NKX2-5	ORPHA:99103
HP:0012639	Abnormal nervous system morphology	70	ACTC1	ORPHA:99103
HP:0012639	Abnormal nervous system morphology	4607	MYBPC3	OMIM:115197
HP:0012639	Abnormal nervous system morphology	84665	MYPN	ORPHA:75249
HP:0012639	Abnormal nervous system morphology	7139	TNNT2	ORPHA:75249
HP:0012639	Abnormal nervous system morphology	10112	KIF20A	ORPHA:75249
HP:0012639	Abnormal nervous system morphology	189	AGXT	ORPHA:93598
HP:0012639	Abnormal nervous system morphology	10269	ZMPSTE24	ORPHA:740
HP:0012639	Abnormal nervous system morphology	64132	XYLT2	OMIM:264800
HP:0012639	Abnormal nervous system morphology	80206	FHOD3	OMIM:619402
HP:0012639	Abnormal nervous system morphology	50485	SMARCAL1	ORPHA:1830
HP:0012639	Abnormal nervous system morphology	50485	SMARCAL1	OMIM:242900
HP:0012639	Abnormal nervous system morphology	182	JAG1	OMIM:118450
HP:0012639	Abnormal nervous system morphology	28976	ACAD9	OMIM:611126
HP:0012639	Abnormal nervous system morphology	2147	F2	OMIM:601367
HP:0012639	Abnormal nervous system morphology	5583	PRKCH	OMIM:601367
HP:0012639	Abnormal nervous system morphology	2153	F5	OMIM:601367
HP:0012639	Abnormal nervous system morphology	241	ALOX5AP	OMIM:601367
HP:0012639	Abnormal nervous system morphology	445	ASS1	OMIM:215700
HP:0012639	Abnormal nervous system morphology	3593	IL12B	ORPHA:3287
HP:0012639	Abnormal nervous system morphology	6945	MLX	ORPHA:3287
HP:0012639	Abnormal nervous system morphology	5286	PIK3C2A	ORPHA:557003
HP:0012639	Abnormal nervous system morphology	4860	PNP	ORPHA:760
HP:0012639	Abnormal nervous system morphology	4878	NPPA	OMIM:615745
HP:0012639	Abnormal nervous system morphology	1373	CPS1	OMIM:237300
HP:0012639	Abnormal nervous system morphology	7535	ZAP70	ORPHA:911
HP:0012639	Abnormal nervous system morphology	10716	TBR1	OMIM:606053
HP:0012639	Abnormal nervous system morphology	4927	NUP88	ORPHA:994
HP:0012639	Abnormal nervous system morphology	4654	MYOD1	ORPHA:994
HP:0012639	Abnormal nervous system morphology	6572	SLC18A3	ORPHA:994
HP:0012639	Abnormal nervous system morphology	132884	EVC2	OMIM:225500
HP:0012639	Abnormal nervous system morphology	2121	EVC	OMIM:225500
HP:0012639	Abnormal nervous system morphology	1028	CDKN1C	OMIM:130650
HP:0012639	Abnormal nervous system morphology	3481	IGF2	OMIM:130650
HP:0012639	Abnormal nervous system morphology	3784	KCNQ1	OMIM:130650
HP:0012639	Abnormal nervous system morphology	10984	KCNQ1OT1	OMIM:130650
HP:0012639	Abnormal nervous system morphology	10613	ERLIN1	ORPHA:401785
HP:0012639	Abnormal nervous system morphology	10613	ERLIN1	OMIM:615681
HP:0012639	Abnormal nervous system morphology	2355	FOSL2	OMIM:620789
HP:0012639	Abnormal nervous system morphology	10501	SEMA6B	OMIM:618876
HP:0012639	Abnormal nervous system morphology	22897	CEP164	OMIM:614845
HP:0012639	Abnormal nervous system morphology	54974	THG1L	OMIM:618800
HP:0012639	Abnormal nervous system morphology	80856	LNPK	OMIM:618090
HP:0012639	Abnormal nervous system morphology	10804	GJB6	ORPHA:477
HP:0012639	Abnormal nervous system morphology	10236	HNRNPR	OMIM:620073
HP:0012639	Abnormal nervous system morphology	79645	CLXN	OMIM:620642
HP:0012639	Abnormal nervous system morphology	6095	RORA	OMIM:618060
HP:0012639	Abnormal nervous system morphology	83700	JAM3	OMIM:613730
HP:0012639	Abnormal nervous system morphology	55325	UFSP2	OMIM:620028
HP:0012639	Abnormal nervous system morphology	1736	DKC1	OMIM:305000
HP:0012639	Abnormal nervous system morphology	1736	DKC1	ORPHA:3322
HP:0012639	Abnormal nervous system morphology	85300	ATCAY	ORPHA:94122
HP:0012639	Abnormal nervous system morphology	85300	ATCAY	OMIM:601238
HP:0012639	Abnormal nervous system morphology	57176	VARS2	OMIM:615917
HP:0012639	Abnormal nervous system morphology	9690	UBE3C	OMIM:620270
HP:0012639	Abnormal nervous system morphology	4983	OPHN1	OMIM:300486
HP:0012639	Abnormal nervous system morphology	4983	OPHN1	ORPHA:137831
HP:0012639	Abnormal nervous system morphology	55112	DYNC2I1	ORPHA:93271
HP:0012639	Abnormal nervous system morphology	57560	IFT80	ORPHA:93271
HP:0012639	Abnormal nervous system morphology	57539	WDR35	ORPHA:93271
HP:0012639	Abnormal nervous system morphology	79659	DYNC2H1	ORPHA:93271
HP:0012639	Abnormal nervous system morphology	89891	DYNC2I2	ORPHA:93271
HP:0012639	Abnormal nervous system morphology	80232	WDR26	ORPHA:513456
HP:0012639	Abnormal nervous system morphology	5932	RBBP8	OMIM:606744
HP:0012639	Abnormal nervous system morphology	6507	SLC1A3	OMIM:612656
HP:0012639	Abnormal nervous system morphology	26277	TINF2	OMIM:613990
HP:0012639	Abnormal nervous system morphology	26277	TINF2	ORPHA:3322
HP:0012639	Abnormal nervous system morphology	26277	TINF2	OMIM:268130
HP:0012639	Abnormal nervous system morphology	26277	TINF2	OMIM:127550
HP:0012639	Abnormal nervous system morphology	83871	RAB34	OMIM:620718
HP:0012639	Abnormal nervous system morphology	5119	CHMP1A	OMIM:614961
HP:0012639	Abnormal nervous system morphology	6773	STAT2	OMIM:618886
HP:0012639	Abnormal nervous system morphology	157680	VPS13B	OMIM:216550
HP:0012639	Abnormal nervous system morphology	5073	PARN	OMIM:616353
HP:0012639	Abnormal nervous system morphology	5073	PARN	ORPHA:3322
HP:0012639	Abnormal nervous system morphology	23036	ZNF292	OMIM:619188
HP:0012639	Abnormal nervous system morphology	55154	MSTO1	ORPHA:502423
HP:0012639	Abnormal nervous system morphology	492	ATP2B3	ORPHA:314978
HP:0012639	Abnormal nervous system morphology	8241	RBM10	OMIM:311900
HP:0012639	Abnormal nervous system morphology	8241	RBM10	ORPHA:2886
HP:0012639	Abnormal nervous system morphology	55280	CWF19L1	OMIM:616127
HP:0012639	Abnormal nervous system morphology	6134	RPL10	ORPHA:459070
HP:0012639	Abnormal nervous system morphology	6134	RPL10	OMIM:300998
HP:0012639	Abnormal nervous system morphology	4644	MYO5A	ORPHA:33445
HP:0012639	Abnormal nervous system morphology	8818	DPM2	OMIM:615042
HP:0012639	Abnormal nervous system morphology	8818	DPM2	ORPHA:329178
HP:0012639	Abnormal nervous system morphology	8733	GPAA1	ORPHA:529665
HP:0012639	Abnormal nervous system morphology	8733	GPAA1	OMIM:617810
HP:0012639	Abnormal nervous system morphology	9474	ATG5	OMIM:617584
HP:0012639	Abnormal nervous system morphology	51085	MLXIPL	OMIM:194050
HP:0012639	Abnormal nervous system morphology	55691	FRMD4A	OMIM:616819
HP:0012639	Abnormal nervous system morphology	125988	MICOS13	OMIM:618329
HP:0012639	Abnormal nervous system morphology	29929	ALG6	ORPHA:79320
HP:0012639	Abnormal nervous system morphology	51750	RTEL1	ORPHA:3322
HP:0012639	Abnormal nervous system morphology	51750	RTEL1	OMIM:615190
HP:0012639	Abnormal nervous system morphology	65057	ACD	ORPHA:3322
HP:0012639	Abnormal nervous system morphology	65057	ACD	OMIM:616553
HP:0012639	Abnormal nervous system morphology	10533	ATG7	OMIM:619422
HP:0012639	Abnormal nervous system morphology	55656	INTS8	OMIM:618572
HP:0012639	Abnormal nervous system morphology	84181	CHD6	ORPHA:2108
HP:0012639	Abnormal nervous system morphology	2879	GPX4	ORPHA:93317
HP:0012639	Abnormal nervous system morphology	253738	EBF3	ORPHA:96148
HP:0012639	Abnormal nervous system morphology	998	CDC42	OMIM:616737
HP:0012639	Abnormal nervous system morphology	7012	TERC	OMIM:127550
HP:0012639	Abnormal nervous system morphology	6821	SUOX	OMIM:272300
HP:0012639	Abnormal nervous system morphology	6712	SPTBN2	OMIM:600224
HP:0012639	Abnormal nervous system morphology	3188	HNRNPH2	OMIM:300986
HP:0012639	Abnormal nervous system morphology	64374	SIL1	ORPHA:559
HP:0012639	Abnormal nervous system morphology	340075	ARSI	ORPHA:401815
HP:0012639	Abnormal nervous system morphology	57003	CCDC47	OMIM:618268
HP:0012639	Abnormal nervous system morphology	27107	ZBTB11	OMIM:618383
HP:0012639	Abnormal nervous system morphology	6872	TAF1	OMIM:300966
HP:0012639	Abnormal nervous system morphology	4841	NONO	OMIM:300967
HP:0012639	Abnormal nervous system morphology	4841	NONO	ORPHA:466791
HP:0012639	Abnormal nervous system morphology	202018	TAPT1	OMIM:616897
HP:0012639	Abnormal nervous system morphology	55164	SHQ1	OMIM:619922
HP:0012639	Abnormal nervous system morphology	7291	TWIST1	OMIM:617746
HP:0012639	Abnormal nervous system morphology	55074	OXR1	OMIM:213000
HP:0012639	Abnormal nervous system morphology	498	ATP5F1A	OMIM:615228
HP:0012639	Abnormal nervous system morphology	8925	HERC1	ORPHA:457359
HP:0012639	Abnormal nervous system morphology	8925	HERC1	OMIM:617011
HP:0012639	Abnormal nervous system morphology	10491	CRTAP	ORPHA:2050
HP:0012639	Abnormal nervous system morphology	55503	TRPV6	OMIM:618188
HP:0012639	Abnormal nervous system morphology	9231	DLG5	OMIM:620703
HP:0012639	Abnormal nervous system morphology	131405	TRIM71	OMIM:618667
HP:0012639	Abnormal nervous system morphology	9578	CDC42BPB	OMIM:619841
HP:0012639	Abnormal nervous system morphology	29128	UHRF1	ORPHA:2268
HP:0012639	Abnormal nervous system morphology	3070	HELLS	ORPHA:2268
HP:0012639	Abnormal nervous system morphology	1789	DNMT3B	ORPHA:2268
HP:0012639	Abnormal nervous system morphology	83879	CDCA7	ORPHA:2268
HP:0012639	Abnormal nervous system morphology	9841	ZBTB24	ORPHA:2268
HP:0012639	Abnormal nervous system morphology	6938	TCF12	OMIM:615314
HP:0012639	Abnormal nervous system morphology	71	ACTG1	OMIM:614583
HP:0012639	Abnormal nervous system morphology	71	ACTG1	ORPHA:2995
HP:0012639	Abnormal nervous system morphology	348180	CTU2	OMIM:618142
HP:0012639	Abnormal nervous system morphology	55704	CCDC88A	OMIM:617507
HP:0012639	Abnormal nervous system morphology	157922	CAMSAP1	OMIM:620316
HP:0012639	Abnormal nervous system morphology	100506658	OCLN	OMIM:251290
HP:0012639	Abnormal nervous system morphology	3090	HIC1	ORPHA:531
HP:0012639	Abnormal nervous system morphology	7531	YWHAE	ORPHA:531
HP:0012639	Abnormal nervous system morphology	23545	ATP6V0A2	ORPHA:357074
HP:0012639	Abnormal nervous system morphology	529	ATP6V1E1	ORPHA:357074
HP:0012639	Abnormal nervous system morphology	1020	CDK5	OMIM:616342
HP:0012639	Abnormal nervous system morphology	412	STS	ORPHA:281090
HP:0012639	Abnormal nervous system morphology	22931	RAB18	ORPHA:2510
HP:0012639	Abnormal nervous system morphology	128637	TBC1D20	ORPHA:2510
HP:0012639	Abnormal nervous system morphology	26276	VPS33B	OMIM:208085
HP:0012639	Abnormal nervous system morphology	7161	TP73	OMIM:619466
HP:0012639	Abnormal nervous system morphology	51075	TMX2	OMIM:618730
HP:0012639	Abnormal nervous system morphology	8738	CRADD	OMIM:614499
HP:0012639	Abnormal nervous system morphology	55367	PIDD1	OMIM:619827
HP:0012639	Abnormal nervous system morphology	63894	VIPAS39	OMIM:613404
HP:0012639	Abnormal nervous system morphology	3730	ANOS1	OMIM:308700
HP:0012639	Abnormal nervous system morphology	4286	MITF	ORPHA:897
HP:0012639	Abnormal nervous system morphology	2057	EPOR	OMIM:133100
HP:0012639	Abnormal nervous system morphology	2677	GGCX	OMIM:277450
HP:0012639	Abnormal nervous system morphology	3032	HADHB	OMIM:620300
HP:0012639	Abnormal nervous system morphology	2335	FN1	ORPHA:84090
HP:0012639	Abnormal nervous system morphology	2243	FGA	ORPHA:98880
HP:0012639	Abnormal nervous system morphology	2244	FGB	ORPHA:98880
HP:0012639	Abnormal nervous system morphology	2266	FGG	ORPHA:98880
HP:0012639	Abnormal nervous system morphology	3075	CFH	ORPHA:244242
HP:0012639	Abnormal nervous system morphology	4179	CD46	ORPHA:244242
HP:0012639	Abnormal nervous system morphology	101101692	HELLPAR	ORPHA:244242
HP:0012639	Abnormal nervous system morphology	58	ACTA1	OMIM:620278
HP:0012639	Abnormal nervous system morphology	2165	F13B	ORPHA:331
HP:0012639	Abnormal nervous system morphology	442721	LMOD2	OMIM:619897
HP:0012639	Abnormal nervous system morphology	9103	FCGR2C	ORPHA:3002
HP:0012639	Abnormal nervous system morphology	2582	GALE	OMIM:620776
HP:0012639	Abnormal nervous system morphology	54658	UGT1A1	OMIM:218800
HP:0012639	Abnormal nervous system morphology	54658	UGT1A1	OMIM:237900
HP:0012639	Abnormal nervous system morphology	54658	UGT1A1	ORPHA:79234
HP:0012639	Abnormal nervous system morphology	6007	RHD	OMIM:619462
HP:0012639	Abnormal nervous system morphology	6611	SMS	ORPHA:3063
HP:0012639	Abnormal nervous system morphology	116442	RAB39B	OMIM:311510
HP:0012639	Abnormal nervous system morphology	23209	MLC1	OMIM:604004
HP:0012639	Abnormal nervous system morphology	3199	HOXA2	ORPHA:83463
HP:0012639	Abnormal nervous system morphology	5925	RB1	ORPHA:1587
HP:0012639	Abnormal nervous system morphology	4524	MTHFR	ORPHA:395
HP:0012639	Abnormal nervous system morphology	284058	KANSL1	ORPHA:363958
HP:0012639	Abnormal nervous system morphology	284058	KANSL1	OMIM:610443
HP:0012639	Abnormal nervous system morphology	284058	KANSL1	ORPHA:363965
HP:0012639	Abnormal nervous system morphology	23314	SATB2	ORPHA:251028
HP:0012639	Abnormal nervous system morphology	201163	FLCN	OMIM:610883
HP:0012639	Abnormal nervous system morphology	25981	DNAH1	ORPHA:244
HP:0012639	Abnormal nervous system morphology	115948	ODAD3	ORPHA:244
HP:0012639	Abnormal nervous system morphology	54768	HYDIN	ORPHA:244
HP:0012639	Abnormal nervous system morphology	352909	DNAAF3	ORPHA:244
HP:0012639	Abnormal nervous system morphology	27148	STK36	ORPHA:244
HP:0012639	Abnormal nervous system morphology	51314	NME8	ORPHA:244
HP:0012639	Abnormal nervous system morphology	92749	DRC1	ORPHA:244
HP:0012639	Abnormal nervous system morphology	54970	TTC12	ORPHA:244
HP:0012639	Abnormal nervous system morphology	152110	NEK10	ORPHA:244
HP:0012639	Abnormal nervous system morphology	8481	OFD1	ORPHA:244
HP:0012639	Abnormal nervous system morphology	2302	FOXJ1	ORPHA:244
HP:0012639	Abnormal nervous system morphology	221421	RSPH9	ORPHA:244
HP:0012639	Abnormal nervous system morphology	85478	CCDC65	ORPHA:244
HP:0012639	Abnormal nervous system morphology	55036	CCDC40	ORPHA:244
HP:0012639	Abnormal nervous system morphology	51364	ZMYND10	ORPHA:244
HP:0012639	Abnormal nervous system morphology	64446	DNAI2	ORPHA:244
HP:0012639	Abnormal nervous system morphology	8382	NME5	ORPHA:244
HP:0012639	Abnormal nervous system morphology	6674	SPAG1	ORPHA:244
HP:0012639	Abnormal nervous system morphology	83544	DNAL1	ORPHA:244
HP:0012639	Abnormal nervous system morphology	89765	RSPH1	ORPHA:244
HP:0012639	Abnormal nervous system morphology	83538	ODAD4	ORPHA:244
HP:0012639	Abnormal nervous system morphology	200373	CFAP221	ORPHA:244
HP:0012639	Abnormal nervous system morphology	374407	DNAJB13	ORPHA:244
HP:0012639	Abnormal nervous system morphology	55172	DNAAF2	ORPHA:244
HP:0012639	Abnormal nervous system morphology	161582	DNAAF4	ORPHA:244
HP:0012639	Abnormal nervous system morphology	2622	GAS8	ORPHA:244
HP:0012639	Abnormal nervous system morphology	23639	DNAAF11	ORPHA:244
HP:0012639	Abnormal nervous system morphology	27019	DNAI1	ORPHA:244
HP:0012639	Abnormal nervous system morphology	345895	RSPH4A	ORPHA:244
HP:0012639	Abnormal nervous system morphology	54919	DNAAF5	ORPHA:244
HP:0012639	Abnormal nervous system morphology	6103	RPGR	ORPHA:244
HP:0012639	Abnormal nervous system morphology	85452	CFAP74	ORPHA:244
HP:0012639	Abnormal nervous system morphology	93233	ODAD1	ORPHA:244
HP:0012639	Abnormal nervous system morphology	55130	ODAD2	ORPHA:244
HP:0012639	Abnormal nervous system morphology	1767	DNAH5	ORPHA:244
HP:0012639	Abnormal nervous system morphology	83861	RSPH3	ORPHA:244
HP:0012639	Abnormal nervous system morphology	345643	MCIDAS	ORPHA:244
HP:0012639	Abnormal nervous system morphology	56683	CFAP298	ORPHA:244
HP:0012639	Abnormal nervous system morphology	79925	SPEF2	ORPHA:244
HP:0012639	Abnormal nervous system morphology	10309	CCNO	ORPHA:244
HP:0012639	Abnormal nervous system morphology	115399	LRRC56	ORPHA:244
HP:0012639	Abnormal nervous system morphology	139212	DNAAF6	ORPHA:244
HP:0012639	Abnormal nervous system morphology	123872	DNAAF1	ORPHA:244
HP:0012639	Abnormal nervous system morphology	85016	CFAP300	ORPHA:244
HP:0012639	Abnormal nervous system morphology	339829	CCDC39	ORPHA:244
HP:0012639	Abnormal nervous system morphology	8701	DNAH11	ORPHA:244
HP:0012639	Abnormal nervous system morphology	1770	DNAH9	ORPHA:244
HP:0012639	Abnormal nervous system morphology	246176	GAS2L2	ORPHA:244
HP:0012639	Abnormal nervous system morphology	652	BMP4	OMIM:607932
HP:0012639	Abnormal nervous system morphology	7468	NSD2	OMIM:194190
HP:0012639	Abnormal nervous system morphology	10815	CPLX1	OMIM:194190
HP:0012639	Abnormal nervous system morphology	1487	CTBP1	OMIM:194190
HP:0012639	Abnormal nervous system morphology	53834	FGFRL1	OMIM:194190
HP:0012639	Abnormal nervous system morphology	3954	LETM1	OMIM:194190
HP:0012639	Abnormal nervous system morphology	6515	SLC2A3	ORPHA:399
HP:0012639	Abnormal nervous system morphology	1497	CTNS	OMIM:219800
HP:0012639	Abnormal nervous system morphology	65267	WNK3	OMIM:309610
HP:0012639	Abnormal nervous system morphology	101060691	NUTM2B-AS1	OMIM:618637
HP:0012639	Abnormal nervous system morphology	54982	CLN6	OMIM:204300
HP:0012639	Abnormal nervous system morphology	5105	PCK1	OMIM:261680
HP:0012639	Abnormal nervous system morphology	5833	PCYT2	OMIM:618770
HP:0012639	Abnormal nervous system morphology	1201	CLN3	OMIM:204200
HP:0012639	Abnormal nervous system morphology	92609	TIMM50	OMIM:617698
HP:0012639	Abnormal nervous system morphology	92609	TIMM50	ORPHA:505216
HP:0012639	Abnormal nervous system morphology	10531	PITRM1	OMIM:619405
HP:0012639	Abnormal nervous system morphology	339855	KY	ORPHA:496689
HP:0012639	Abnormal nervous system morphology	29960	MRM2	OMIM:618567
HP:0012639	Abnormal nervous system morphology	23189	KANK1	OMIM:612900
HP:0012639	Abnormal nervous system morphology	2055	CLN8	ORPHA:1947
HP:0012639	Abnormal nervous system morphology	2055	CLN8	OMIM:600143
HP:0012639	Abnormal nervous system morphology	2055	CLN8	OMIM:610003
HP:0012639	Abnormal nervous system morphology	26100	WIPI2	OMIM:618453
HP:0012639	Abnormal nervous system morphology	27429	HTRA2	OMIM:617248
HP:0012639	Abnormal nervous system morphology	57520	HECW2	OMIM:617268
HP:0012639	Abnormal nervous system morphology	1760	DMPK	OMIM:160900
HP:0012639	Abnormal nervous system morphology	5934	RBL2	OMIM:619690
HP:0012639	Abnormal nervous system morphology	79709	COLGALT1	OMIM:618360
HP:0012639	Abnormal nervous system morphology	4704	NDUFA9	OMIM:618247
HP:0012639	Abnormal nervous system morphology	127833	SYT2	OMIM:619461
HP:0012639	Abnormal nervous system morphology	4714	NDUFB8	OMIM:618252
HP:0012639	Abnormal nervous system morphology	84896	ATAD1	OMIM:618011
HP:0012639	Abnormal nervous system morphology	220296	HEPACAM	OMIM:613925
HP:0012639	Abnormal nervous system morphology	3975	LHX1	ORPHA:261265
HP:0012639	Abnormal nervous system morphology	6928	HNF1B	ORPHA:261265
HP:0012639	Abnormal nervous system morphology	2571	GAD1	OMIM:619124
HP:0012639	Abnormal nervous system morphology	1200	TPP1	OMIM:204500
HP:0012639	Abnormal nervous system morphology	9487	PIGL	OMIM:280000
HP:0012639	Abnormal nervous system morphology	51102	MECR	ORPHA:508093
HP:0012639	Abnormal nervous system morphology	162	AP1B1	OMIM:242150
HP:0012639	Abnormal nervous system morphology	54476	RNF216	OMIM:212840
HP:0012639	Abnormal nervous system morphology	51324	SPG21	OMIM:248900
HP:0012639	Abnormal nervous system morphology	64207	IRF2BPL	OMIM:618088
HP:0012639	Abnormal nervous system morphology	55037	PTCD3	OMIM:619057
HP:0012639	Abnormal nervous system morphology	8772	FADD	OMIM:613759
HP:0012639	Abnormal nervous system morphology	8772	FADD	ORPHA:306550
HP:0012639	Abnormal nervous system morphology	54675	CRLS1	OMIM:620167
HP:0012639	Abnormal nervous system morphology	5095	PCCA	OMIM:606054
HP:0012639	Abnormal nervous system morphology	5096	PCCB	OMIM:606054
HP:0012639	Abnormal nervous system morphology	5826	ABCD4	OMIM:614857
HP:0012639	Abnormal nervous system morphology	5521	PPP2R2B	ORPHA:98762
HP:0012639	Abnormal nervous system morphology	6314	ATXN7	ORPHA:94147
HP:0012639	Abnormal nervous system morphology	57017	COQ9	OMIM:614654
HP:0012639	Abnormal nervous system morphology	64116	SLC39A8	OMIM:616721
HP:0012639	Abnormal nervous system morphology	132	ADK	OMIM:614300
HP:0012639	Abnormal nervous system morphology	53616	ADAM22	OMIM:617933
HP:0012639	Abnormal nervous system morphology	2258	FGF13	OMIM:301058
HP:0012639	Abnormal nervous system morphology	2891	GRIA2	OMIM:618917
HP:0012639	Abnormal nervous system morphology	23732	FRRS1L	OMIM:616981
HP:0012639	Abnormal nervous system morphology	29940	DSE	OMIM:615539
HP:0012639	Abnormal nervous system morphology	5538	PPT1	OMIM:256730
HP:0012639	Abnormal nervous system morphology	2806	GOT2	OMIM:618721
HP:0012639	Abnormal nervous system morphology	22978	NT5C2	OMIM:613162
HP:0012639	Abnormal nervous system morphology	22868	FASTKD2	OMIM:618855
HP:0012639	Abnormal nervous system morphology	57338	JPH3	ORPHA:98934
HP:0012639	Abnormal nervous system morphology	2138	EYA1	OMIM:113650
HP:0012639	Abnormal nervous system morphology	6495	SIX1	OMIM:113650
HP:0012639	Abnormal nervous system morphology	9217	VAPB	OMIM:608627
HP:0012639	Abnormal nervous system morphology	6315	ATXN8OS	OMIM:608768
HP:0012639	Abnormal nervous system morphology	724066	ATXN8	OMIM:608768
HP:0012639	Abnormal nervous system morphology	9131	AIFM1	ORPHA:83629
HP:0012639	Abnormal nervous system morphology	3748	KCNC3	OMIM:605259
HP:0012639	Abnormal nervous system morphology	11277	TREX1	OMIM:225750
HP:0012639	Abnormal nervous system morphology	25814	ATXN10	OMIM:603516
HP:0012639	Abnormal nervous system morphology	80169	CTC1	OMIM:612199
HP:0012639	Abnormal nervous system morphology	8575	PRKRA	OMIM:612067
HP:0012639	Abnormal nervous system morphology	6531	SLC6A3	OMIM:613135
HP:0012639	Abnormal nervous system morphology	2581	GALC	ORPHA:206448
HP:0012639	Abnormal nervous system morphology	6513	SLC2A1	OMIM:601042
HP:0012639	Abnormal nervous system morphology	80704	SLC19A3	OMIM:607483
HP:0012639	Abnormal nervous system morphology	1807	DPYS	OMIM:222748
HP:0012639	Abnormal nervous system morphology	1203	CLN5	OMIM:256731
HP:0012639	Abnormal nervous system morphology	80331	DNAJC5	OMIM:162350
HP:0012639	Abnormal nervous system morphology	343450	KCNT2	OMIM:617771
HP:0012639	Abnormal nervous system morphology	6844	VAMP2	OMIM:618760
HP:0012639	Abnormal nervous system morphology	51098	IFT52	OMIM:617102
HP:0012639	Abnormal nervous system morphology	10765	KDM5B	OMIM:618109
HP:0012639	Abnormal nervous system morphology	2671	GFER	ORPHA:330054
HP:0012639	Abnormal nervous system morphology	2560	GABRB1	OMIM:617153
HP:0012639	Abnormal nervous system morphology	5332	PLCB4	OMIM:620458
HP:0012639	Abnormal nervous system morphology	285590	SH3PXD2B	OMIM:249420
HP:0012639	Abnormal nervous system morphology	9907	AP5Z1	OMIM:613647
HP:0012639	Abnormal nervous system morphology	9907	AP5Z1	ORPHA:306511
HP:0012639	Abnormal nervous system morphology	1267	CNP	OMIM:619071
HP:0012639	Abnormal nervous system morphology	51244	CCDC174	OMIM:616816
HP:0012639	Abnormal nervous system morphology	200403	VWA3B	OMIM:616948
HP:0012639	Abnormal nervous system morphology	11020	IFT27	OMIM:615996
HP:0012639	Abnormal nervous system morphology	23291	FBXW11	OMIM:618914
HP:0012639	Abnormal nervous system morphology	1468	SLC25A10	OMIM:618972
HP:0012639	Abnormal nervous system morphology	5307	PITX1	OMIM:119800
HP:0012639	Abnormal nervous system morphology	4858	NOVA2	OMIM:618859
HP:0012639	Abnormal nervous system morphology	51082	POLR1D	ORPHA:861
HP:0012639	Abnormal nervous system morphology	56603	CYP26B1	OMIM:614416
HP:0012639	Abnormal nervous system morphology	22800	RRAS2	OMIM:618624
HP:0012639	Abnormal nervous system morphology	3008	H1-4	OMIM:617537
HP:0012639	Abnormal nervous system morphology	51111	KMT5B	OMIM:617788
HP:0012639	Abnormal nervous system morphology	113189	CHST14	ORPHA:2953
HP:0012639	Abnormal nervous system morphology	113189	CHST14	OMIM:601776
HP:0012639	Abnormal nervous system morphology	3340	NDST1	OMIM:616116
HP:0012639	Abnormal nervous system morphology	54	ACP5	ORPHA:1855
HP:0012639	Abnormal nervous system morphology	2203	FBP1	ORPHA:348
HP:0012639	Abnormal nervous system morphology	1107	CHD3	OMIM:618205
HP:0012639	Abnormal nervous system morphology	10102	TSFM	OMIM:610505
HP:0012639	Abnormal nervous system morphology	100033413	SNORD116-1	OMIM:176270
HP:0012639	Abnormal nervous system morphology	8924	HERC2	OMIM:176270
HP:0012639	Abnormal nervous system morphology	23742	NPAP1	OMIM:176270
HP:0012639	Abnormal nervous system morphology	338433	SNORD115-1	OMIM:176270
HP:0012639	Abnormal nervous system morphology	54551	MAGEL2	OMIM:176270
HP:0012639	Abnormal nervous system morphology	54551	MAGEL2	ORPHA:398069
HP:0012639	Abnormal nervous system morphology	54551	MAGEL2	ORPHA:98754
HP:0012639	Abnormal nervous system morphology	54551	MAGEL2	ORPHA:177904
HP:0012639	Abnormal nervous system morphology	54551	MAGEL2	ORPHA:177901
HP:0012639	Abnormal nervous system morphology	7681	MKRN3	OMIM:176270
HP:0012639	Abnormal nervous system morphology	145624	PWAR1	OMIM:176270
HP:0012639	Abnormal nervous system morphology	3653	IPW	OMIM:176270
HP:0012639	Abnormal nervous system morphology	791114	PWRN1	OMIM:176270
HP:0012639	Abnormal nervous system morphology	650	BMP2	ORPHA:261295
HP:0012639	Abnormal nervous system morphology	23102	TBC1D2B	OMIM:619323
HP:0012639	Abnormal nervous system morphology	6492	SIM1	ORPHA:398079
HP:0012639	Abnormal nervous system morphology	1108	CHD4	OMIM:617159
HP:0012639	Abnormal nervous system morphology	633	BGN	OMIM:300989
HP:0012639	Abnormal nervous system morphology	80036	TRPM3	OMIM:620224
HP:0012639	Abnormal nervous system morphology	55252	ASXL2	OMIM:617190
HP:0012639	Abnormal nervous system morphology	4781	NFIB	OMIM:618286
HP:0012639	Abnormal nervous system morphology	57538	ALPK3	OMIM:618052
HP:0012639	Abnormal nervous system morphology	2892	GRIA3	OMIM:300699
HP:0012639	Abnormal nervous system morphology	9570	GOSR2	OMIM:620166
HP:0012639	Abnormal nervous system morphology	4591	TRIM37	OMIM:253250
HP:0012639	Abnormal nervous system morphology	2615	LRRC32	OMIM:619074
HP:0012639	Abnormal nervous system morphology	4692	NDN	ORPHA:98754
HP:0012639	Abnormal nervous system morphology	4692	NDN	ORPHA:177904
HP:0012639	Abnormal nervous system morphology	4692	NDN	ORPHA:177901
HP:0012639	Abnormal nervous system morphology	23483	TGDS	ORPHA:1388
HP:0012639	Abnormal nervous system morphology	11133	KPTN	OMIM:615637
HP:0012639	Abnormal nervous system morphology	10943	MSL3	OMIM:301032
HP:0012639	Abnormal nervous system morphology	8985	PLOD3	OMIM:612394
HP:0012639	Abnormal nervous system morphology	8936	WASF1	OMIM:618707
HP:0012639	Abnormal nervous system morphology	113246	C12orf57	OMIM:218340
HP:0012639	Abnormal nervous system morphology	7137	TNNI3	OMIM:115210
HP:0012639	Abnormal nervous system morphology	23309	SIN3B	ORPHA:500166
HP:0012639	Abnormal nervous system morphology	3852	KRT5	ORPHA:79396
HP:0012639	Abnormal nervous system morphology	3861	KRT14	ORPHA:79396
HP:0012639	Abnormal nervous system morphology	58499	ZNF462	OMIM:618619
HP:0012639	Abnormal nervous system morphology	25792	CIZ1	ORPHA:420492
HP:0012639	Abnormal nervous system morphology	4582	MUC1	OMIM:174000
HP:0012639	Abnormal nervous system morphology	493856	CISD2	ORPHA:3463
HP:0012639	Abnormal nervous system morphology	10452	TOMM40	ORPHA:1020
HP:0012639	Abnormal nervous system morphology	6653	SORL1	ORPHA:1020
HP:0012639	Abnormal nervous system morphology	2583	B4GALNT1	OMIM:609195
HP:0012639	Abnormal nervous system morphology	2583	B4GALNT1	ORPHA:101006
HP:0012639	Abnormal nervous system morphology	27249	MMADHC	OMIM:277410
HP:0012639	Abnormal nervous system morphology	55630	SLC39A4	ORPHA:37
HP:0012639	Abnormal nervous system morphology	10166	SLC25A15	ORPHA:415
HP:0012639	Abnormal nervous system morphology	10166	SLC25A15	OMIM:238970
HP:0012639	Abnormal nervous system morphology	10283	CWC27	OMIM:250410
HP:0012639	Abnormal nervous system morphology	10283	CWC27	ORPHA:166035
HP:0012639	Abnormal nervous system morphology	60558	GUF1	OMIM:617065
HP:0012639	Abnormal nervous system morphology	27183	VPS4A	OMIM:619273
HP:0012639	Abnormal nervous system morphology	8450	CUL4B	OMIM:300354
HP:0012639	Abnormal nervous system morphology	79903	NAA60	OMIM:620786
HP:0012639	Abnormal nervous system morphology	9342	SNAP29	ORPHA:66631
HP:0012639	Abnormal nervous system morphology	9342	SNAP29	OMIM:609528
HP:0012639	Abnormal nervous system morphology	54931	TRMT10C	OMIM:616974
HP:0012639	Abnormal nervous system morphology	8320	EOMES	ORPHA:171703
HP:0012639	Abnormal nervous system morphology	8131	NPRL3	ORPHA:98820
HP:0012639	Abnormal nervous system morphology	10641	NPRL2	ORPHA:98820
HP:0012639	Abnormal nervous system morphology	80311	KLHL15	OMIM:300982
HP:0012639	Abnormal nervous system morphology	1822	ATN1	OMIM:618494
HP:0012639	Abnormal nervous system morphology	4204	MECP2	OMIM:300673
HP:0012639	Abnormal nervous system morphology	4204	MECP2	ORPHA:209370
HP:0012639	Abnormal nervous system morphology	23512	SUZ12	OMIM:618786
HP:0012639	Abnormal nervous system morphology	526	ATP6V1B2	ORPHA:79500
HP:0012639	Abnormal nervous system morphology	3800	KIF5C	OMIM:615282
HP:0012639	Abnormal nervous system morphology	79143	MBOAT7	OMIM:617188
HP:0012639	Abnormal nervous system morphology	10319	LAMC3	OMIM:614115
HP:0012639	Abnormal nervous system morphology	5879	RAC1	OMIM:617751
HP:0012639	Abnormal nervous system morphology	5879	RAC1	ORPHA:500159
HP:0012639	Abnormal nervous system morphology	168667	BMPER	OMIM:608022
HP:0012639	Abnormal nervous system morphology	11160	ERLIN2	ORPHA:247604
HP:0012639	Abnormal nervous system morphology	9636	ISG15	OMIM:616126
HP:0012639	Abnormal nervous system morphology	2767	GNA11	OMIM:615361
HP:0012639	Abnormal nervous system morphology	2625	GATA3	OMIM:146255
HP:0012639	Abnormal nervous system morphology	90	ACVR1	OMIM:135100
HP:0012639	Abnormal nervous system morphology	56984	PSMG2	OMIM:619183
HP:0012639	Abnormal nervous system morphology	846	CASR	OMIM:601198
HP:0012639	Abnormal nervous system morphology	5696	PSMB8	OMIM:256040
HP:0012639	Abnormal nervous system morphology	4088	SMAD3	OMIM:613795
HP:0012639	Abnormal nervous system morphology	4088	SMAD3	ORPHA:91387
HP:0012639	Abnormal nervous system morphology	2159	F10	ORPHA:328
HP:0012639	Abnormal nervous system morphology	51816	ADA2	ORPHA:820
HP:0012639	Abnormal nervous system morphology	81704	DOCK8	OMIM:243700
HP:0012639	Abnormal nervous system morphology	6786	STIM1	OMIM:185070
HP:0012639	Abnormal nervous system morphology	4629	MYH11	ORPHA:91387
HP:0012639	Abnormal nervous system morphology	4015	LOX	ORPHA:91387
HP:0012639	Abnormal nervous system morphology	4087	SMAD2	ORPHA:91387
HP:0012639	Abnormal nervous system morphology	7043	TGFB3	ORPHA:91387
HP:0012639	Abnormal nervous system morphology	7042	TGFB2	ORPHA:91387
HP:0012639	Abnormal nervous system morphology	5592	PRKG1	ORPHA:91387
HP:0012639	Abnormal nervous system morphology	2301	FOXE3	ORPHA:91387
HP:0012639	Abnormal nervous system morphology	4144	MAT2A	ORPHA:91387
HP:0012639	Abnormal nervous system morphology	23493	HEY2	ORPHA:91387
HP:0012639	Abnormal nervous system morphology	8076	MFAP5	ORPHA:91387
HP:0012639	Abnormal nervous system morphology	4638	MYLK	ORPHA:91387
HP:0012639	Abnormal nervous system morphology	79875	THSD4	ORPHA:91387
HP:0012639	Abnormal nervous system morphology	2811	GP1BA	ORPHA:853
HP:0012639	Abnormal nervous system morphology	3674	ITGA2B	ORPHA:853
HP:0012639	Abnormal nervous system morphology	3673	ITGA2	ORPHA:853
HP:0012639	Abnormal nervous system morphology	135228	CD109	ORPHA:853
HP:0012639	Abnormal nervous system morphology	3690	ITGB3	ORPHA:853
HP:0012639	Abnormal nervous system morphology	81031	SLC2A10	OMIM:208050
HP:0012639	Abnormal nervous system morphology	79184	BRCC3	ORPHA:280679
HP:0012639	Abnormal nervous system morphology	2706	GJB2	ORPHA:494
HP:0012639	Abnormal nervous system morphology	22948	CCT5	ORPHA:139578
HP:0012639	Abnormal nervous system morphology	9927	MFN2	ORPHA:99947
HP:0012639	Abnormal nervous system morphology	3187	HNRNPH1	OMIM:620083
HP:0012639	Abnormal nervous system morphology	54892	NCAPG2	OMIM:618460
HP:0012639	Abnormal nervous system morphology	10093	ARPC4	OMIM:620141
HP:0012639	Abnormal nervous system morphology	4774	NFIA	ORPHA:401986
HP:0012639	Abnormal nervous system morphology	7750	ZMYM2	OMIM:619522
HP:0012639	Abnormal nervous system morphology	171546	SPTSSA	OMIM:620416
HP:0012639	Abnormal nervous system morphology	171546	SPTSSA	OMIM:620417
HP:0012639	Abnormal nervous system morphology	2155	F7	OMIM:227500
HP:0012639	Abnormal nervous system morphology	2155	F7	ORPHA:327
HP:0012639	Abnormal nervous system morphology	5345	SERPINF2	ORPHA:79
HP:0012639	Abnormal nervous system morphology	5054	SERPINE1	ORPHA:465
HP:0012639	Abnormal nervous system morphology	249	ALPL	OMIM:241500
HP:0012639	Abnormal nervous system morphology	3998	LMAN1	ORPHA:35909
HP:0012639	Abnormal nervous system morphology	90411	MCFD2	ORPHA:35909
HP:0012639	Abnormal nervous system morphology	2162	F13A1	OMIM:613225
HP:0012639	Abnormal nervous system morphology	1584	CYP11B1	ORPHA:90795
HP:0012639	Abnormal nervous system morphology	1584	CYP11B1	ORPHA:403
HP:0012639	Abnormal nervous system morphology	2157	F8	ORPHA:169805
HP:0012639	Abnormal nervous system morphology	2157	F8	ORPHA:169802
HP:0012639	Abnormal nervous system morphology	2624	GATA2	ORPHA:228423
HP:0012639	Abnormal nervous system morphology	1181	CLCN2	ORPHA:404
HP:0012639	Abnormal nervous system morphology	1585	CYP11B2	ORPHA:403
HP:0012639	Abnormal nervous system morphology	776	CACNA1D	ORPHA:369929
HP:0012639	Abnormal nervous system morphology	3762	KCNJ5	ORPHA:251274
HP:0012639	Abnormal nervous system morphology	10128	LRPPRC	OMIM:220111
HP:0012639	Abnormal nervous system morphology	4728	NDUFS8	OMIM:618222
HP:0012639	Abnormal nervous system morphology	4337	MOCS1	OMIM:252150
HP:0012639	Abnormal nervous system morphology	1355	COX15	OMIM:615119
HP:0012639	Abnormal nervous system morphology	4001	LMNB1	OMIM:169500
HP:0012639	Abnormal nervous system morphology	10667	FARS2	OMIM:614946
HP:0012639	Abnormal nervous system morphology	79813	EHMT1	ORPHA:261652
HP:0012639	Abnormal nervous system morphology	58508	KMT2C	ORPHA:261652
HP:0012639	Abnormal nervous system morphology	283989	TSEN54	OMIM:225753
HP:0012639	Abnormal nervous system morphology	283989	TSEN54	OMIM:277470
HP:0012639	Abnormal nervous system morphology	1841	DTYMK	OMIM:619847
HP:0012639	Abnormal nervous system morphology	3064	HTT	OMIM:143100
HP:0012639	Abnormal nervous system morphology	617	BCS1L	OMIM:124000
HP:0012639	Abnormal nervous system morphology	9179	AP4M1	OMIM:612936
HP:0012639	Abnormal nervous system morphology	6904	TBCD	OMIM:617193
HP:0012639	Abnormal nervous system morphology	3735	KARS1	ORPHA:3240
HP:0012639	Abnormal nervous system morphology	55739	NAXD	OMIM:618321
HP:0012639	Abnormal nervous system morphology	29978	UBQLN2	OMIM:300857
HP:0012639	Abnormal nervous system morphology	51780	KDM3B	OMIM:618846
HP:0012639	Abnormal nervous system morphology	551	AVP	OMIM:125700
HP:0012639	Abnormal nervous system morphology	54834	GDAP2	OMIM:618369
HP:0012639	Abnormal nervous system morphology	2629	GBA1	ORPHA:411602
HP:0012639	Abnormal nervous system morphology	23317	DNAJC13	ORPHA:411602
HP:0012639	Abnormal nervous system morphology	1981	EIF4G1	ORPHA:411602
HP:0012639	Abnormal nervous system morphology	55737	VPS35	ORPHA:411602
HP:0012639	Abnormal nervous system morphology	120892	LRRK2	ORPHA:411602
HP:0012639	Abnormal nervous system morphology	26058	GIGYF2	ORPHA:411602
HP:0012639	Abnormal nervous system morphology	6622	SNCA	ORPHA:411602
HP:0012639	Abnormal nervous system morphology	6622	SNCA	OMIM:168601
HP:0012639	Abnormal nervous system morphology	3295	HSD17B4	OMIM:261515
HP:0012639	Abnormal nervous system morphology	2744	GLS	OMIM:618328
HP:0012639	Abnormal nervous system morphology	23203	PMPCA	OMIM:213200
HP:0012639	Abnormal nervous system morphology	5076	PAX2	OMIM:120330
HP:0012639	Abnormal nervous system morphology	5903	RANBP2	OMIM:608033
HP:0012639	Abnormal nervous system morphology	5903	RANBP2	ORPHA:88619
HP:0012639	Abnormal nervous system morphology	1967	EIF2B1	OMIM:603896
HP:0012639	Abnormal nervous system morphology	7305	TYROBP	OMIM:221770
HP:0012639	Abnormal nervous system morphology	221927	BRAT1	OMIM:614498
HP:0012639	Abnormal nervous system morphology	4338	MOCS2	OMIM:252160
HP:0012639	Abnormal nervous system morphology	79731	NARS2	OMIM:616239
HP:0012639	Abnormal nervous system morphology	1974	EIF4A2	OMIM:620455
HP:0012639	Abnormal nervous system morphology	26834	RNU4-2	OMIM:620851
HP:0012639	Abnormal nervous system morphology	6908	TBP	OMIM:607136
HP:0012639	Abnormal nervous system morphology	2110	ETFDH	OMIM:231680
HP:0012639	Abnormal nervous system morphology	2108	ETFA	OMIM:231680
HP:0012639	Abnormal nervous system morphology	2109	ETFB	OMIM:231680
HP:0012639	Abnormal nervous system morphology	79736	TEFM	OMIM:620451
HP:0012639	Abnormal nervous system morphology	5251	PHEX	OMIM:307800
HP:0012639	Abnormal nervous system morphology	5251	PHEX	ORPHA:89936
HP:0012639	Abnormal nervous system morphology	4921	DDR2	OMIM:271665
HP:0012639	Abnormal nervous system morphology	595	CCND1	ORPHA:29073
HP:0012639	Abnormal nervous system morphology	3423	IDS	ORPHA:217085
HP:0012639	Abnormal nervous system morphology	3423	IDS	ORPHA:217093
HP:0012639	Abnormal nervous system morphology	9839	ZEB2	ORPHA:626
HP:0012639	Abnormal nervous system morphology	4893	NRAS	ORPHA:626
HP:0012639	Abnormal nervous system morphology	5894	RAF1	ORPHA:626
HP:0012639	Abnormal nervous system morphology	1280	COL2A1	ORPHA:94068
HP:0012639	Abnormal nervous system morphology	1280	COL2A1	ORPHA:485
HP:0012639	Abnormal nervous system morphology	1280	COL2A1	ORPHA:93346
HP:0012639	Abnormal nervous system morphology	1836	SLC26A2	ORPHA:628
HP:0012639	Abnormal nervous system morphology	1836	SLC26A2	OMIM:222600
HP:0012639	Abnormal nervous system morphology	25839	COG4	OMIM:618150
HP:0012639	Abnormal nervous system morphology	3043	HBB	ORPHA:231222
HP:0012639	Abnormal nervous system morphology	2317	FLNB	OMIM:150250
HP:0012639	Abnormal nervous system morphology	2137	EXTL3	OMIM:617425
HP:0012639	Abnormal nervous system morphology	25871	NEPRO	OMIM:618853
HP:0012639	Abnormal nervous system morphology	2304	FOXE1	ORPHA:319487
HP:0012639	Abnormal nervous system morphology	3026	HABP2	ORPHA:319487
HP:0012639	Abnormal nervous system morphology	9562	MINPP1	ORPHA:319487
HP:0012639	Abnormal nervous system morphology	1763	DNA2	OMIM:615807
HP:0012639	Abnormal nervous system morphology	950	SCARB2	ORPHA:77259
HP:0012639	Abnormal nervous system morphology	126792	B3GALT6	OMIM:271640
HP:0012639	Abnormal nervous system morphology	11152	WDR45	OMIM:300894
HP:0012639	Abnormal nervous system morphology	2512	FTL	OMIM:606159
HP:0012639	Abnormal nervous system morphology	2495	FTH1	OMIM:620669
HP:0012639	Abnormal nervous system morphology	1737	DLAT	ORPHA:79244
HP:0012639	Abnormal nervous system morphology	8148	TAF15	ORPHA:803
HP:0012639	Abnormal nervous system morphology	5445	PON2	ORPHA:803
HP:0012639	Abnormal nervous system morphology	55830	GLT8D1	ORPHA:803
HP:0012639	Abnormal nervous system morphology	755	CFAP410	ORPHA:803
HP:0012639	Abnormal nervous system morphology	10891	PPARGC1A	ORPHA:803
HP:0012639	Abnormal nervous system morphology	10133	OPTN	ORPHA:803
HP:0012639	Abnormal nervous system morphology	5444	PON1	ORPHA:803
HP:0012639	Abnormal nervous system morphology	5446	PON3	ORPHA:803
HP:0012639	Abnormal nervous system morphology	5216	PFN1	ORPHA:803
HP:0012639	Abnormal nervous system morphology	283	ANG	ORPHA:803
HP:0012639	Abnormal nervous system morphology	1610	DAO	ORPHA:803
HP:0012639	Abnormal nervous system morphology	2066	ERBB4	ORPHA:803
HP:0012639	Abnormal nervous system morphology	23025	UNC13A	ORPHA:803
HP:0012639	Abnormal nervous system morphology	899	CCNF	ORPHA:803
HP:0012639	Abnormal nervous system morphology	27235	COQ2	OMIM:146500
HP:0012639	Abnormal nervous system morphology	5111	PCNA	OMIM:615919
HP:0012639	Abnormal nervous system morphology	5111	PCNA	ORPHA:438134
HP:0012639	Abnormal nervous system morphology	2760	GM2A	ORPHA:309246
HP:0012639	Abnormal nervous system morphology	2760	GM2A	OMIM:272750
HP:0012639	Abnormal nervous system morphology	2348	FOLR1	OMIM:613068
HP:0012639	Abnormal nervous system morphology	57505	AARS2	OMIM:615889
HP:0012639	Abnormal nervous system morphology	256471	MFSD8	OMIM:610951
HP:0012639	Abnormal nervous system morphology	1130	LYST	OMIM:214500
HP:0012639	Abnormal nervous system morphology	8883	NAE1	OMIM:620210
HP:0012639	Abnormal nervous system morphology	3028	HSD17B10	ORPHA:391428
HP:0012639	Abnormal nervous system morphology	34	ACADM	OMIM:201450
HP:0012639	Abnormal nervous system morphology	593	BCKDHA	OMIM:248600
HP:0012639	Abnormal nervous system morphology	10165	SLC25A13	ORPHA:247585
HP:0012639	Abnormal nervous system morphology	10165	SLC25A13	OMIM:603471
HP:0012639	Abnormal nervous system morphology	708	C1QBP	OMIM:617713
HP:0012639	Abnormal nervous system morphology	10577	NPC2	OMIM:607625
HP:0012639	Abnormal nervous system morphology	9445	ITM2B	OMIM:117300
HP:0012639	Abnormal nervous system morphology	199857	ALG14	OMIM:619031
HP:0012639	Abnormal nervous system morphology	199857	ALG14	OMIM:619036
HP:0012639	Abnormal nervous system morphology	8367	H4C5	OMIM:619950
HP:0012639	Abnormal nervous system morphology	104	ADARB1	OMIM:618862
HP:0012639	Abnormal nervous system morphology	23417	MLYCD	OMIM:248360
HP:0012639	Abnormal nervous system morphology	347734	SLC35B2	OMIM:620269
HP:0012639	Abnormal nervous system morphology	81570	CLPB	OMIM:619835
HP:0012639	Abnormal nervous system morphology	51506	UFC1	OMIM:618076
HP:0012639	Abnormal nervous system morphology	387787	LIPT2	OMIM:617668
HP:0012639	Abnormal nervous system morphology	4010	LMX1B	ORPHA:495818
HP:0012639	Abnormal nervous system morphology	375387	NRROS	OMIM:618875
HP:0012639	Abnormal nervous system morphology	5610	EIF2AK2	OMIM:618877
HP:0012639	Abnormal nervous system morphology	3781	KCNN2	OMIM:619725
HP:0012639	Abnormal nervous system morphology	7175	TPR	OMIM:620393
HP:0012639	Abnormal nervous system morphology	55870	ASH1L	OMIM:617796
HP:0012639	Abnormal nervous system morphology	6573	SLC19A1	OMIM:620603
HP:0012639	Abnormal nervous system morphology	5191	PEX7	OMIM:215100
HP:0012639	Abnormal nervous system morphology	1656	DDX6	OMIM:618653
HP:0012639	Abnormal nervous system morphology	497661	C18orf32	OMIM:619985
HP:0012639	Abnormal nervous system morphology	833	CARS1	OMIM:618891
HP:0012639	Abnormal nervous system morphology	57178	ZMIZ1	OMIM:618659
HP:0012639	Abnormal nervous system morphology	25942	SIN3A	OMIM:613406
HP:0012639	Abnormal nervous system morphology	7915	ALDH5A1	OMIM:271980
HP:0012639	Abnormal nervous system morphology	9653	HS2ST1	OMIM:619194
HP:0012639	Abnormal nervous system morphology	54914	FOCAD	OMIM:619991
HP:0012639	Abnormal nervous system morphology	116115	ZNF526	OMIM:619877
HP:0012639	Abnormal nervous system morphology	6609	SMPD1	OMIM:257200
HP:0012639	Abnormal nervous system morphology	728294	D2HGDH	OMIM:600721
HP:0012639	Abnormal nervous system morphology	7358	UGDH	OMIM:618792
HP:0012639	Abnormal nervous system morphology	4849	CNOT3	OMIM:618672
HP:0012639	Abnormal nervous system morphology	9440	MED17	OMIM:613668
HP:0012639	Abnormal nervous system morphology	10430	TMEM147	OMIM:620075
HP:0012639	Abnormal nervous system morphology	7143	TNR	OMIM:619653
HP:0012639	Abnormal nervous system morphology	197258	FCSK	OMIM:618324
HP:0012639	Abnormal nervous system morphology	85365	ALG2	OMIM:607906
HP:0012639	Abnormal nervous system morphology	27086	FOXP1	OMIM:613670
HP:0012639	Abnormal nervous system morphology	8218	CLTCL1	ORPHA:453510
HP:0012639	Abnormal nervous system morphology	9725	TMEM63A	OMIM:618688
HP:0012639	Abnormal nervous system morphology	2146	EZH2	OMIM:277590
HP:0012639	Abnormal nervous system morphology	84978	FRMD5	OMIM:620094
HP:0012639	Abnormal nervous system morphology	404672	GTF2H5	OMIM:616395
HP:0012639	Abnormal nervous system morphology	10159	ATP6AP2	OMIM:300423
HP:0012639	Abnormal nervous system morphology	51693	TRAPPC2L	OMIM:618331
HP:0012639	Abnormal nervous system morphology	84188	FAR1	OMIM:616154
HP:0012639	Abnormal nervous system morphology	27133	KCNH5	OMIM:620537
HP:0012639	Abnormal nervous system morphology	22907	DHX30	OMIM:617804
HP:0012639	Abnormal nervous system morphology	11338	U2AF2	OMIM:620535
HP:0012639	Abnormal nervous system morphology	5910	RAP1GDS1	OMIM:620655
HP:0012639	Abnormal nervous system morphology	339453	TMEM240	OMIM:607454
HP:0012639	Abnormal nervous system morphology	9230	RAB11B	OMIM:617807
HP:0012639	Abnormal nervous system morphology	30000	TNPO2	OMIM:619556
HP:0012639	Abnormal nervous system morphology	83548	COG3	OMIM:620546
HP:0012639	Abnormal nervous system morphology	85358	SHANK3	OMIM:606232
HP:0012639	Abnormal nervous system morphology	7707	ZNF148	OMIM:617260
HP:0012639	Abnormal nervous system morphology	5515	PPP2CA	OMIM:618354
HP:0012639	Abnormal nervous system morphology	51601	LIPT1	OMIM:616299
HP:0012639	Abnormal nervous system morphology	10588	MTHFS	OMIM:618367
HP:0012639	Abnormal nervous system morphology	23221	RHOBTB2	OMIM:618004
HP:0012639	Abnormal nervous system morphology	23511	NUP188	OMIM:618804
HP:0012639	Abnormal nervous system morphology	26007	TKFC	OMIM:618805
HP:0012639	Abnormal nervous system morphology	3054	HCFC1	OMIM:309541
HP:0012639	Abnormal nervous system morphology	3183	HNRNPC	OMIM:620688
HP:0012639	Abnormal nervous system morphology	4594	MMUT	OMIM:251000
HP:0012639	Abnormal nervous system morphology	9758	FRMPD4	OMIM:300983
HP:0012639	Abnormal nervous system morphology	8943	AP3D1	OMIM:617050
HP:0012639	Abnormal nervous system morphology	51095	TRNT1	OMIM:616084
HP:0012639	Abnormal nervous system morphology	51501	HIKESHI	OMIM:616881
HP:0012639	Abnormal nervous system morphology	91461	PKDCC	OMIM:618821
HP:0012639	Abnormal nervous system morphology	8452	CUL3	OMIM:619239
HP:0012639	Abnormal nervous system morphology	4329	ALDH6A1	OMIM:614105
HP:0012639	Abnormal nervous system morphology	51124	IER3IP1	OMIM:614231
HP:0012639	Abnormal nervous system morphology	9739	SETD1A	OMIM:618832
HP:0012639	Abnormal nervous system morphology	95	ACY1	OMIM:609924
HP:0012639	Abnormal nervous system morphology	6529	SLC6A1	OMIM:616421
HP:0012639	Abnormal nervous system morphology	23154	NCDN	OMIM:619373
HP:0012639	Abnormal nervous system morphology	5430	POLR2A	OMIM:618603
HP:0012639	Abnormal nervous system morphology	81615	TMEM163	OMIM:620243
HP:0012639	Abnormal nervous system morphology	9939	RBM8A	OMIM:274000
HP:0012639	Abnormal nervous system morphology	124454	EARS2	OMIM:614924
HP:0012639	Abnormal nervous system morphology	10079	ATP9A	OMIM:620242
HP:0012639	Abnormal nervous system morphology	29928	TIMM22	OMIM:618851
HP:0012639	Abnormal nervous system morphology	51733	UPB1	OMIM:613161
HP:0012639	Abnormal nervous system morphology	57647	DHX37	OMIM:618731
HP:0012639	Abnormal nervous system morphology	221692	PHACTR1	OMIM:618298
HP:0012639	Abnormal nervous system morphology	27031	NPHP3	OMIM:267010
HP:0012639	Abnormal nervous system morphology	128240	NAXE	OMIM:617186
HP:0012639	Abnormal nervous system morphology	5921	RASA1	ORPHA:90307
HP:0012639	Abnormal nervous system morphology	686	BTD	ORPHA:79241
HP:0012639	Abnormal nervous system morphology	79158	GNPTAB	OMIM:252500
HP:0012639	Abnormal nervous system morphology	2911	GRM1	OMIM:614831
HP:0012639	Abnormal nervous system morphology	9851	KIAA0753	ORPHA:475
HP:0012639	Abnormal nervous system morphology	9851	KIAA0753	ORPHA:2754
HP:0012639	Abnormal nervous system morphology	5147	PDE6D	ORPHA:475
HP:0012639	Abnormal nervous system morphology	5147	PDE6D	ORPHA:2754
HP:0012639	Abnormal nervous system morphology	79600	TCTN1	ORPHA:475
HP:0012639	Abnormal nervous system morphology	79848	CSPP1	ORPHA:475
HP:0012639	Abnormal nervous system morphology	51684	SUFU	ORPHA:475
HP:0012639	Abnormal nervous system morphology	54806	AHI1	ORPHA:475
HP:0012639	Abnormal nervous system morphology	153241	CEP120	ORPHA:475
HP:0012639	Abnormal nervous system morphology	65250	CPLANE1	ORPHA:475
HP:0012639	Abnormal nervous system morphology	65250	CPLANE1	ORPHA:2754
HP:0012639	Abnormal nervous system morphology	91147	TMEM67	ORPHA:475
HP:0012639	Abnormal nervous system morphology	91147	TMEM67	ORPHA:1454
HP:0012639	Abnormal nervous system morphology	200894	ARL13B	ORPHA:475
HP:0012639	Abnormal nervous system morphology	9731	CEP104	ORPHA:475
HP:0012639	Abnormal nervous system morphology	219844	HYLS1	ORPHA:475
HP:0012639	Abnormal nervous system morphology	23247	KATNIP	ORPHA:475
HP:0012639	Abnormal nervous system morphology	219854	TMEM218	ORPHA:475
HP:0012639	Abnormal nervous system morphology	54903	MKS1	ORPHA:475
HP:0012639	Abnormal nervous system morphology	95681	CEP41	ORPHA:475
HP:0012639	Abnormal nervous system morphology	9786	KIAA0586	ORPHA:475
HP:0012639	Abnormal nervous system morphology	56623	INPP5E	ORPHA:475
HP:0012639	Abnormal nervous system morphology	56623	INPP5E	ORPHA:1454
HP:0012639	Abnormal nervous system morphology	26123	TCTN3	ORPHA:475
HP:0012639	Abnormal nervous system morphology	26123	TCTN3	ORPHA:2754
HP:0012639	Abnormal nervous system morphology	79867	TCTN2	ORPHA:475
HP:0012639	Abnormal nervous system morphology	80776	B9D2	ORPHA:475
HP:0012639	Abnormal nervous system morphology	10464	PIBF1	ORPHA:475
HP:0012639	Abnormal nervous system morphology	80210	ARMC9	ORPHA:475
HP:0012639	Abnormal nervous system morphology	23116	TOGARAM1	ORPHA:475
HP:0012639	Abnormal nervous system morphology	25776	CBY1	ORPHA:475
HP:0012639	Abnormal nervous system morphology	27077	B9D1	ORPHA:475
HP:0012639	Abnormal nervous system morphology	403	ARL3	ORPHA:475
HP:0012639	Abnormal nervous system morphology	80173	IFT74	ORPHA:475
HP:0012639	Abnormal nervous system morphology	65062	TMEM237	ORPHA:475
HP:0012639	Abnormal nervous system morphology	65062	TMEM237	ORPHA:2318
HP:0012639	Abnormal nervous system morphology	284403	WDR62	OMIM:604317
HP:0012639	Abnormal nervous system morphology	1376	CPT2	OMIM:608836
HP:0012639	Abnormal nervous system morphology	1376	CPT2	ORPHA:228308
HP:0012639	Abnormal nervous system morphology	3769	KCNJ13	ORPHA:65
HP:0012639	Abnormal nervous system morphology	343035	RD3	ORPHA:65
HP:0012639	Abnormal nervous system morphology	145226	RDH12	ORPHA:65
HP:0012639	Abnormal nervous system morphology	1406	CRX	ORPHA:65
HP:0012639	Abnormal nervous system morphology	64802	NMNAT1	ORPHA:65
HP:0012639	Abnormal nervous system morphology	57096	RPGRIP1	ORPHA:65
HP:0012639	Abnormal nervous system morphology	80184	CEP290	ORPHA:65
HP:0012639	Abnormal nervous system morphology	80184	CEP290	ORPHA:2318
HP:0012639	Abnormal nervous system morphology	10383	TUBB4B	ORPHA:65
HP:0012639	Abnormal nervous system morphology	9742	IFT140	ORPHA:65
HP:0012639	Abnormal nervous system morphology	85015	USP45	ORPHA:65
HP:0012639	Abnormal nervous system morphology	6121	RPE65	ORPHA:65
HP:0012639	Abnormal nervous system morphology	23418	CRB1	ORPHA:65
HP:0012639	Abnormal nervous system morphology	5130	PCYT1A	ORPHA:65
HP:0012639	Abnormal nervous system morphology	9657	IQCB1	ORPHA:65
HP:0012639	Abnormal nervous system morphology	23746	AIPL1	ORPHA:65
HP:0012639	Abnormal nervous system morphology	3000	GUCY2D	ORPHA:65
HP:0012639	Abnormal nervous system morphology	9227	LRAT	ORPHA:65
HP:0012639	Abnormal nervous system morphology	55812	SPATA7	ORPHA:65
HP:0012639	Abnormal nervous system morphology	7287	TULP1	ORPHA:65
HP:0012639	Abnormal nervous system morphology	167691	LCA5	ORPHA:65
HP:0012639	Abnormal nervous system morphology	3614	IMPDH1	ORPHA:65
HP:0012639	Abnormal nervous system morphology	55670	PEX26	ORPHA:44
HP:0012639	Abnormal nervous system morphology	5824	PEX19	ORPHA:44
HP:0012639	Abnormal nervous system morphology	5828	PEX2	ORPHA:44
HP:0012639	Abnormal nervous system morphology	8504	PEX3	ORPHA:44
HP:0012639	Abnormal nervous system morphology	9409	PEX16	ORPHA:44
HP:0012639	Abnormal nervous system morphology	5190	PEX6	ORPHA:44
HP:0012639	Abnormal nervous system morphology	8799	PEX11B	ORPHA:44
HP:0012639	Abnormal nervous system morphology	5830	PEX5	ORPHA:44
HP:0012639	Abnormal nervous system morphology	5189	PEX1	ORPHA:44
HP:0012639	Abnormal nervous system morphology	5193	PEX12	ORPHA:44
HP:0012639	Abnormal nervous system morphology	5194	PEX13	ORPHA:44
HP:0012639	Abnormal nervous system morphology	5195	PEX14	ORPHA:44
HP:0012639	Abnormal nervous system morphology	5192	PEX10	ORPHA:44
HP:0012639	Abnormal nervous system morphology	6197	RPS6KA3	ORPHA:192
HP:0012639	Abnormal nervous system morphology	57187	THOC2	OMIM:300957
HP:0012639	Abnormal nervous system morphology	5155	PDGFB	ORPHA:1980
HP:0012639	Abnormal nervous system morphology	9213	XPR1	ORPHA:1980
HP:0012639	Abnormal nervous system morphology	5159	PDGFRB	ORPHA:1980
HP:0012639	Abnormal nervous system morphology	57462	MYORG	ORPHA:1980
HP:0012639	Abnormal nervous system morphology	6575	SLC20A2	ORPHA:1980
HP:0012639	Abnormal nervous system morphology	58494	JAM2	ORPHA:1980
HP:0012639	Abnormal nervous system morphology	85378	TUBGCP6	ORPHA:2518
HP:0012639	Abnormal nervous system morphology	27229	TUBGCP4	ORPHA:2518
HP:0012639	Abnormal nervous system morphology	10733	PLK4	ORPHA:2518
HP:0012639	Abnormal nervous system morphology	4683	NBN	ORPHA:647
HP:0012639	Abnormal nervous system morphology	84942	WDR73	OMIM:251300
HP:0012639	Abnormal nervous system morphology	84942	WDR73	ORPHA:2065
HP:0012639	Abnormal nervous system morphology	9289	ADGRG1	ORPHA:98889
HP:0012639	Abnormal nervous system morphology	5297	PI4KA	ORPHA:98889
HP:0012639	Abnormal nervous system morphology	27286	SRPX2	ORPHA:98889
HP:0012639	Abnormal nervous system morphology	2261	FGFR3	ORPHA:93274
HP:0012639	Abnormal nervous system morphology	79583	TMEM231	ORPHA:2318
HP:0012639	Abnormal nervous system morphology	79583	TMEM231	ORPHA:2754
HP:0012639	Abnormal nervous system morphology	51524	TMEM138	ORPHA:2318
HP:0012639	Abnormal nervous system morphology	23090	ZNF423	ORPHA:2318
HP:0012639	Abnormal nervous system morphology	51259	TMEM216	ORPHA:2318
HP:0012639	Abnormal nervous system morphology	51259	TMEM216	ORPHA:2754
HP:0012639	Abnormal nervous system morphology	57545	CC2D2A	ORPHA:2318
HP:0012639	Abnormal nervous system morphology	57545	CC2D2A	ORPHA:1454
HP:0012639	Abnormal nervous system morphology	1859	DYRK1A	ORPHA:464311
HP:0012639	Abnormal nervous system morphology	28514	DLL1	OMIM:618709
HP:0012639	Abnormal nervous system morphology	10210	TOPORS	ORPHA:2754
HP:0012639	Abnormal nervous system morphology	317662	FAM149B1	ORPHA:2754
HP:0012639	Abnormal nervous system morphology	374654	KIF7	ORPHA:2754
HP:0012639	Abnormal nervous system morphology	9897	WASHC5	ORPHA:7
HP:0012639	Abnormal nervous system morphology	28952	CCDC22	ORPHA:7
HP:0012639	Abnormal nervous system morphology	57020	VPS35L	ORPHA:7
HP:0012639	Abnormal nervous system morphology	56896	DPYSL5	ORPHA:7
HP:0012639	Abnormal nervous system morphology	1718	DHCR24	ORPHA:35107
HP:0012639	Abnormal nervous system morphology	5649	RELN	ORPHA:89844
HP:0012639	Abnormal nervous system morphology	10300	KATNB1	ORPHA:89844
HP:0012639	Abnormal nervous system morphology	54820	NDE1	ORPHA:89844
HP:0012639	Abnormal nervous system morphology	23322	RPGRIP1L	ORPHA:1454
HP:0012639	Abnormal nervous system morphology	79693	YRDC	ORPHA:2065
HP:0012639	Abnormal nervous system morphology	51002	TPRKB	ORPHA:2065
HP:0012639	Abnormal nervous system morphology	55644	OSGEP	ORPHA:2065
HP:0012639	Abnormal nervous system morphology	57122	NUP107	ORPHA:2065
HP:0012639	Abnormal nervous system morphology	10785	WDR4	ORPHA:2065
HP:0012639	Abnormal nervous system morphology	55746	NUP133	ORPHA:2065
HP:0012639	Abnormal nervous system morphology	84520	GON7	ORPHA:2065
HP:0012639	Abnormal nervous system morphology	112858	TP53RK	ORPHA:2065
HP:0012639	Abnormal nervous system morphology	8270	LAGE3	ORPHA:2065
HP:0012639	Abnormal nervous system morphology	9215	LARGE1	OMIM:608840
HP:0012639	Abnormal nervous system morphology	9215	LARGE1	ORPHA:899
HP:0012639	Abnormal nervous system morphology	84892	POMGNT2	ORPHA:899
HP:0012639	Abnormal nervous system morphology	148789	B3GALNT2	ORPHA:899
HP:0012639	Abnormal nervous system morphology	79147	FKRP	ORPHA:899
HP:0012639	Abnormal nervous system morphology	29954	POMT2	ORPHA:899
HP:0012639	Abnormal nervous system morphology	1282	COL4A1	ORPHA:899
HP:0012639	Abnormal nervous system morphology	729920	CRPPA	ORPHA:899
HP:0012639	Abnormal nervous system morphology	10329	RXYLT1	ORPHA:899
HP:0012639	Abnormal nervous system morphology	1605	DAG1	ORPHA:899
HP:0012639	Abnormal nervous system morphology	11041	B4GAT1	ORPHA:899
HP:0012639	Abnormal nervous system morphology	10585	POMT1	ORPHA:899
HP:0012639	Abnormal nervous system morphology	84197	POMK	ORPHA:899
HP:0012639	Abnormal nervous system morphology	2218	FKTN	ORPHA:899
HP:0012639	Abnormal nervous system morphology	55624	POMGNT1	ORPHA:899
HP:0012639	Abnormal nervous system morphology	29899	GPSM2	OMIM:604213
HP:0012639	Abnormal nervous system morphology	23013	SPEN	OMIM:619312
HP:0012639	Abnormal nervous system morphology	100151683	RNU4ATAC	OMIM:210710
HP:0012639	Abnormal nervous system morphology	29957	SLC25A24	OMIM:612289
HP:0012639	Abnormal nervous system morphology	57282	SLC4A10	OMIM:620746
HP:0012639	Abnormal nervous system morphology	4659	PPP1R12A	OMIM:618820
HP:0012639	Abnormal nervous system morphology	8496	PPFIBP1	OMIM:620024
HP:0012639	Abnormal nervous system morphology	3190	HNRNPK	ORPHA:453504
HP:0012639	Abnormal nervous system morphology	3190	HNRNPK	ORPHA:352665
HP:0012639	Abnormal nervous system morphology	253959	RALGAPA1	OMIM:618797
HP:0012639	Abnormal nervous system morphology	84162	BLTP1	OMIM:617822
HP:0012639	Abnormal nervous system morphology	284217	LAMA1	OMIM:615960
HP:0012639	Abnormal nervous system morphology	79633	FAT4	ORPHA:314679
HP:0012639	Abnormal nervous system morphology	79633	FAT4	OMIM:615546
HP:0012639	Abnormal nervous system morphology	8642	DCHS1	ORPHA:314679
HP:0012639	Abnormal nervous system morphology	8642	DCHS1	OMIM:601390
HP:0012639	Abnormal nervous system morphology	5048	PAFAH1B1	OMIM:607432
HP:0012639	Abnormal nervous system morphology	9968	MED12	OMIM:305450
HP:0012639	Abnormal nervous system morphology	7846	TUBA1A	OMIM:611603
HP:0012639	Abnormal nervous system morphology	60	ACTB	OMIM:620475
HP:0012639	Abnormal nervous system morphology	57688	ZSWIM6	OMIM:603671
HP:0012639	Abnormal nervous system morphology	57724	EPG5	OMIM:242840
HP:0012639	Abnormal nervous system morphology	57724	EPG5	ORPHA:1493
HP:0012639	Abnormal nervous system morphology	23007	PLCH1	OMIM:619895
HP:0012639	Abnormal nervous system morphology	4123	MAN2C1	OMIM:619775
HP:0012639	Abnormal nervous system morphology	347733	TUBB2B	ORPHA:300573
HP:0012639	Abnormal nervous system morphology	92255	LMBRD2	OMIM:619694
HP:0012639	Abnormal nervous system morphology	11274	USP18	OMIM:617397
HP:0012639	Abnormal nervous system morphology	2678	GGT1	OMIM:231950
HP:0012639	Abnormal nervous system morphology	3796	KIF2A	OMIM:615411
HP:0012639	Abnormal nervous system morphology	8777	MPDZ	OMIM:615219
HP:0012639	Abnormal nervous system morphology	4292	MLH1	OMIM:276300
HP:0012639	Abnormal nervous system morphology	9276	COPB2	ORPHA:2512
HP:0012639	Abnormal nervous system morphology	11113	CIT	ORPHA:2512
HP:0012639	Abnormal nervous system morphology	9928	KIF14	ORPHA:2512
HP:0012639	Abnormal nervous system morphology	22995	CEP152	ORPHA:2512
HP:0012639	Abnormal nervous system morphology	55262	TRAPPC14	ORPHA:2512
HP:0012639	Abnormal nervous system morphology	163786	SASS6	ORPHA:2512
HP:0012639	Abnormal nervous system morphology	29920	PYCR2	ORPHA:2512
HP:0012639	Abnormal nervous system morphology	84879	MFSD2A	ORPHA:2512
HP:0012639	Abnormal nervous system morphology	4176	MCM7	ORPHA:2512
HP:0012639	Abnormal nervous system morphology	80254	CEP63	ORPHA:2512
HP:0012639	Abnormal nervous system morphology	29081	METTL5	ORPHA:2512
HP:0012639	Abnormal nervous system morphology	79023	NUP37	ORPHA:2512
HP:0012639	Abnormal nervous system morphology	23310	NCAPD3	ORPHA:2512
HP:0012639	Abnormal nervous system morphology	6301	SARS1	ORPHA:2512
HP:0012639	Abnormal nervous system morphology	55755	CDK5RAP2	ORPHA:2512
HP:0012639	Abnormal nervous system morphology	79648	MCPH1	ORPHA:2512
HP:0012639	Abnormal nervous system morphology	6491	STIL	ORPHA:2512
HP:0012639	Abnormal nervous system morphology	23141	ANKLE2	ORPHA:2512
HP:0012639	Abnormal nervous system morphology	259266	ASPM	ORPHA:2512
HP:0012639	Abnormal nervous system morphology	7109	TRAPPC10	ORPHA:2512
HP:0012639	Abnormal nervous system morphology	7453	WARS1	ORPHA:2512
HP:0012639	Abnormal nervous system morphology	1911	PHC1	ORPHA:2512
HP:0012639	Abnormal nervous system morphology	1062	CENPE	ORPHA:2512
HP:0012639	Abnormal nervous system morphology	6884	TAF13	ORPHA:2512
HP:0012639	Abnormal nervous system morphology	9662	CEP135	ORPHA:2512
HP:0012639	Abnormal nervous system morphology	57082	KNL1	ORPHA:2512
HP:0012639	Abnormal nervous system morphology	1021	CDK6	ORPHA:2512
HP:0012639	Abnormal nervous system morphology	286204	CRB2	OMIM:219730
HP:0012639	Abnormal nervous system morphology	2009	EML1	OMIM:600348
HP:0012639	Abnormal nervous system morphology	84314	TMEM107	OMIM:617563
HP:0012639	Abnormal nervous system morphology	5395	PMS2	OMIM:619101
HP:0012639	Abnormal nervous system morphology	120	ADD3	OMIM:617008
HP:0012639	Abnormal nervous system morphology	5908	RAP1B	OMIM:620654
HP:0012639	Abnormal nervous system morphology	435	ASL	ORPHA:23
HP:0012639	Abnormal nervous system morphology	1798	DPAGT1	ORPHA:86309
HP:0012639	Abnormal nervous system morphology	51604	PIGT	ORPHA:369837
HP:0012639	Abnormal nervous system morphology	56006	SMG9	OMIM:616920
HP:0012639	Abnormal nervous system morphology	9255	AIMP1	OMIM:260600
HP:0012639	Abnormal nervous system morphology	285175	UNC80	OMIM:616801
HP:0012639	Abnormal nervous system morphology	90624	LYRM7	OMIM:615838
HP:0012639	Abnormal nervous system morphology	2554	GABRA1	ORPHA:33069
HP:0012639	Abnormal nervous system morphology	57526	PCDH19	ORPHA:33069
HP:0012639	Abnormal nervous system morphology	83475	DOHH	OMIM:620066
HP:0012639	Abnormal nervous system morphology	80025	PANK2	OMIM:234200
HP:0012639	Abnormal nervous system morphology	790	CAD	OMIM:616457
HP:0012639	Abnormal nervous system morphology	55163	PNPO	ORPHA:79096
HP:0012639	Abnormal nervous system morphology	8869	ST3GAL5	OMIM:609056
HP:0012639	Abnormal nervous system morphology	1540	CYLD	OMIM:619132
HP:0012639	Abnormal nervous system morphology	1315	COPB1	OMIM:619255
HP:0012639	Abnormal nervous system morphology	128989	TANGO2	ORPHA:480864
HP:0012639	Abnormal nervous system morphology	1678	TIMM8A	ORPHA:52368
HP:0012639	Abnormal nervous system morphology	8803	SUCLA2	OMIM:612073
HP:0012639	Abnormal nervous system morphology	79587	CARS2	OMIM:616672
HP:0012639	Abnormal nervous system morphology	7407	VARS1	OMIM:617802
HP:0012639	Abnormal nervous system morphology	6304	SATB1	OMIM:619229
HP:0012639	Abnormal nervous system morphology	27010	TPK1	OMIM:614458
HP:0012639	Abnormal nervous system morphology	10695	CNPY3	OMIM:617929
HP:0012639	Abnormal nervous system morphology	5745	PTH1R	OMIM:600002
HP:0012639	Abnormal nervous system morphology	6683	SPAST	OMIM:182601
HP:0012639	Abnormal nervous system morphology	2720	GLB1	OMIM:253010
HP:0012639	Abnormal nervous system morphology	2588	GALNS	OMIM:253000
HP:0012639	Abnormal nervous system morphology	81788	NUAK2	OMIM:619452
HP:0012639	Abnormal nervous system morphology	3239	HOXD13	ORPHA:887
HP:0012639	Abnormal nervous system morphology	7066	THPO	ORPHA:71493
HP:0012639	Abnormal nervous system morphology	1311	COMP	OMIM:177170
HP:0012639	Abnormal nervous system morphology	139886	SPIN4	OMIM:301114
HP:0012639	Abnormal nervous system morphology	80217	CFAP43	OMIM:236690
HP:0012639	Abnormal nervous system morphology	644096	SDHAF1	OMIM:619166
HP:0012639	Abnormal nervous system morphology	4780	NFE2L2	OMIM:617744
HP:0012639	Abnormal nervous system morphology	8891	EIF2B3	OMIM:620313
HP:0012639	Abnormal nervous system morphology	8892	EIF2B2	OMIM:620312
HP:0012639	Abnormal nervous system morphology	25913	POT1	OMIM:620368
HP:0012639	Abnormal nervous system morphology	6342	SCP2	OMIM:613724
HP:0012639	Abnormal nervous system morphology	8050	PDHX	ORPHA:255182
HP:0012639	Abnormal nervous system morphology	2332	FMR1	ORPHA:93256
HP:0012639	Abnormal nervous system morphology	22	ABCB7	OMIM:301310
HP:0012639	Abnormal nervous system morphology	2562	GABRB3	ORPHA:2382
HP:0012639	Abnormal nervous system morphology	5602	MAPK10	ORPHA:2382
HP:0012639	Abnormal nervous system morphology	23316	CUX2	ORPHA:2382
HP:0012639	Abnormal nervous system morphology	1106	CHD2	ORPHA:2382
HP:0012639	Abnormal nervous system morphology	55901	THSD1	ORPHA:231160
HP:0012639	Abnormal nervous system morphology	7049	TGFBR3	ORPHA:231160
HP:0012639	Abnormal nervous system morphology	1281	COL3A1	ORPHA:231160
HP:0012639	Abnormal nervous system morphology	83854	ANGPTL6	ORPHA:231160
HP:0012639	Abnormal nervous system morphology	4621	MYH3	OMIM:193700
HP:0012639	Abnormal nervous system morphology	203068	TUBB	OMIM:615771
HP:0012639	Abnormal nervous system morphology	111	ADCY5	OMIM:619651
HP:0012639	Abnormal nervous system morphology	427	ASAH1	ORPHA:2590
HP:0012639	Abnormal nervous system morphology	6687	SPG7	ORPHA:35689
HP:0012639	Abnormal nervous system morphology	83636	C19orf12	OMIM:614298
HP:0012639	Abnormal nervous system morphology	57679	ALS2	OMIM:205100
HP:0012639	Abnormal nervous system morphology	57679	ALS2	OMIM:607225
HP:0012639	Abnormal nervous system morphology	9782	MATR3	OMIM:606070
HP:0012639	Abnormal nervous system morphology	57449	PLEKHG5	OMIM:611067
HP:0012639	Abnormal nervous system morphology	29110	TBK1	OMIM:616439
HP:0012639	Abnormal nervous system morphology	29110	TBK1	ORPHA:275872
HP:0012639	Abnormal nervous system morphology	7415	VCP	OMIM:613954
HP:0012639	Abnormal nervous system morphology	7415	VCP	ORPHA:275872
HP:0012639	Abnormal nervous system morphology	7415	VCP	ORPHA:100070
HP:0012639	Abnormal nervous system morphology	8878	SQSTM1	OMIM:616437
HP:0012639	Abnormal nervous system morphology	8878	SQSTM1	ORPHA:275872
HP:0012639	Abnormal nervous system morphology	1639	DCTN1	OMIM:607641
HP:0012639	Abnormal nervous system morphology	4287	ATXN3	ORPHA:276244
HP:0012639	Abnormal nervous system morphology	54822	TRPM7	OMIM:105500
HP:0012639	Abnormal nervous system morphology	2521	FUS	ORPHA:275872
HP:0012639	Abnormal nervous system morphology	23435	TARDBP	ORPHA:275872
HP:0012639	Abnormal nervous system morphology	400916	CHCHD10	ORPHA:275872
HP:0012639	Abnormal nervous system morphology	80208	SPG11	OMIM:602099
HP:0012639	Abnormal nervous system morphology	203228	C9orf72	OMIM:105550
HP:0012639	Abnormal nervous system morphology	55187	VPS13D	ORPHA:95434
HP:0012639	Abnormal nervous system morphology	27072	VPS41	ORPHA:95434
HP:0012639	Abnormal nervous system morphology	25978	CHMP2B	ORPHA:100070
HP:0012639	Abnormal nervous system morphology	5663	PSEN1	ORPHA:100070
HP:0012639	Abnormal nervous system morphology	2896	GRN	ORPHA:100070
HP:0012639	Abnormal nervous system morphology	54664	TMEM106B	ORPHA:100070
HP:0012639	Abnormal nervous system morphology	4137	MAPT	ORPHA:100070
HP:0012639	Abnormal nervous system morphology	54209	TREM2	ORPHA:100070
HP:0012639	Abnormal nervous system morphology	6772	STAT1	ORPHA:391487
HP:0012639	Abnormal nervous system morphology	4261	CIITA	OMIM:209920
HP:0012639	Abnormal nervous system morphology	8517	IKBKG	ORPHA:464
HP:0012639	Abnormal nervous system morphology	8915	BCL10	OMIM:616098
HP:0012639	Abnormal nervous system morphology	54968	TMEM70	ORPHA:1194
HP:0012639	Abnormal nervous system morphology	3930	LBR	ORPHA:779
HP:0012639	Abnormal nervous system morphology	340024	SLC6A19	ORPHA:2116
HP:0012639	Abnormal nervous system morphology	57393	CLTRN	ORPHA:2116
HP:0012639	Abnormal nervous system morphology	546	ATRX	ORPHA:847
HP:0012639	Abnormal nervous system morphology	8815	BANF1	OMIM:614008
HP:0012639	Abnormal nervous system morphology	55969	RAB5IF	OMIM:616994
HP:0012639	Abnormal nervous system morphology	94	ACVRL1	OMIM:600376
HP:0012639	Abnormal nervous system morphology	2022	ENG	OMIM:187300
HP:0012639	Abnormal nervous system morphology	57562	CEP126	ORPHA:65684
HP:0012639	Abnormal nervous system morphology	6606	SMN1	OMIM:253550
HP:0012639	Abnormal nervous system morphology	6606	SMN1	OMIM:271150
HP:0012639	Abnormal nervous system morphology	6606	SMN1	OMIM:253400
HP:0012639	Abnormal nervous system morphology	6647	SOD1	OMIM:105400
HP:0012639	Abnormal nervous system morphology	5630	PRPH	OMIM:105400
HP:0012639	Abnormal nervous system morphology	4744	NEFH	OMIM:105400
HP:0012639	Abnormal nervous system morphology	311	ANXA11	OMIM:617839
HP:0012639	Abnormal nervous system morphology	6607	SMN2	OMIM:253400
HP:0012639	Abnormal nervous system morphology	4511	MT-TC	OMIM:540000
HP:0012639	Abnormal nervous system morphology	54344	DPM3	ORPHA:263494
HP:0012639	Abnormal nervous system morphology	23600	AMACR	ORPHA:79095
HP:0012639	Abnormal nervous system morphology	3569	IL6	OMIM:108010
HP:0012639	Abnormal nervous system morphology	91754	NEK9	ORPHA:64754
HP:0012639	Abnormal nervous system morphology	11198	SUPT16H	OMIM:619480
HP:0012639	Abnormal nervous system morphology	23524	SRRM2	OMIM:620439
HP:0012639	Abnormal nervous system morphology	30008	EFEMP2	OMIM:614437
HP:0012639	Abnormal nervous system morphology	55521	TRIM36	OMIM:206500
HP:0012639	Abnormal nervous system morphology	5091	PC	OMIM:266150
HP:0012639	Abnormal nervous system morphology	25915	NDUFAF3	ORPHA:2609
HP:0012639	Abnormal nervous system morphology	51103	NDUFAF1	ORPHA:2609
HP:0012639	Abnormal nervous system morphology	91942	NDUFAF2	ORPHA:2609
HP:0012639	Abnormal nervous system morphology	51300	TIMMDC1	ORPHA:2609
HP:0012639	Abnormal nervous system morphology	4716	NDUFB10	ORPHA:2609
HP:0012639	Abnormal nervous system morphology	284184	NDUFAF8	ORPHA:2609
HP:0012639	Abnormal nervous system morphology	55863	TMEM126B	ORPHA:2609
HP:0012639	Abnormal nervous system morphology	4694	NDUFA1	ORPHA:2609
HP:0012639	Abnormal nervous system morphology	4724	NDUFS4	ORPHA:2609
HP:0012639	Abnormal nervous system morphology	4724	NDUFS4	OMIM:252010
HP:0012639	Abnormal nervous system morphology	4726	NDUFS6	ORPHA:2609
HP:0012639	Abnormal nervous system morphology	4722	NDUFS3	ORPHA:2609
HP:0012639	Abnormal nervous system morphology	79133	NDUFAF5	ORPHA:2609
HP:0012639	Abnormal nervous system morphology	4709	NDUFB3	ORPHA:2609
HP:0012639	Abnormal nervous system morphology	80224	NUBPL	ORPHA:2609
HP:0012639	Abnormal nervous system morphology	80224	NUBPL	OMIM:618242
HP:0012639	Abnormal nervous system morphology	29078	NDUFAF4	ORPHA:2609
HP:0012639	Abnormal nervous system morphology	374291	NDUFS7	ORPHA:2609
HP:0012639	Abnormal nervous system morphology	4700	NDUFA6	ORPHA:2609
HP:0012639	Abnormal nervous system morphology	4715	NDUFB9	ORPHA:2609
HP:0012639	Abnormal nervous system morphology	11019	LIAS	OMIM:614462
HP:0012639	Abnormal nervous system morphology	64857	PLEKHG2	OMIM:616763
HP:0012639	Abnormal nervous system morphology	57165	GJC2	OMIM:608804
HP:0012639	Abnormal nervous system morphology	9533	POLR1C	OMIM:616494
HP:0012639	Abnormal nervous system morphology	122961	ISCA2	OMIM:616370
HP:0012639	Abnormal nervous system morphology	1910	EDNRB	OMIM:277580
HP:0012639	Abnormal nervous system morphology	7284	TUFM	OMIM:610678
HP:0012639	Abnormal nervous system morphology	1340	COX6B1	OMIM:619051
HP:0012639	Abnormal nervous system morphology	56915	EXOSC5	OMIM:619576
HP:0012639	Abnormal nervous system morphology	5917	RARS1	OMIM:616140
HP:0012639	Abnormal nervous system morphology	727676	SNORD118	OMIM:614561
HP:0012639	Abnormal nervous system morphology	2058	EPRS1	OMIM:617951
HP:0012639	Abnormal nervous system morphology	7965	AIMP2	OMIM:618006
HP:0012639	Abnormal nervous system morphology	85021	REPS1	OMIM:617916
HP:0012639	Abnormal nervous system morphology	3431	SP110	ORPHA:79124
HP:0012639	Abnormal nervous system morphology	79053	ALG8	ORPHA:79325
HP:0012639	Abnormal nervous system morphology	8789	FBP2	OMIM:619864
HP:0012639	Abnormal nervous system morphology	18	ABAT	OMIM:613163
HP:0012639	Abnormal nervous system morphology	55331	ACER3	OMIM:617762
HP:0012639	Abnormal nervous system morphology	388962	BOLA3	OMIM:614299
HP:0012639	Abnormal nervous system morphology	3329	HSPD1	OMIM:612233
HP:0012639	Abnormal nervous system morphology	10382	TUBB4A	OMIM:612438
HP:0012639	Abnormal nervous system morphology	84705	GTPBP3	ORPHA:444013
HP:0012639	Abnormal nervous system morphology	10844	TUBGCP2	OMIM:618737
HP:0012639	Abnormal nervous system morphology	5077	PAX3	ORPHA:894
HP:0012639	Abnormal nervous system morphology	6309	SC5D	ORPHA:46059
HP:0012639	Abnormal nervous system morphology	7476	WNT7A	ORPHA:2879
HP:0012639	Abnormal nervous system morphology	134701	RIPPLY2	ORPHA:2311
HP:0012639	Abnormal nervous system morphology	10683	DLL3	ORPHA:2311
HP:0012639	Abnormal nervous system morphology	3955	LFNG	ORPHA:2311
HP:0012639	Abnormal nervous system morphology	145873	MESP2	ORPHA:2311
HP:0012639	Abnormal nervous system morphology	6628	SNRPB	ORPHA:1393
HP:0012639	Abnormal nervous system morphology	57466	SCAF4	OMIM:620511
HP:0012639	Abnormal nervous system morphology	92335	STRADA	OMIM:611087
HP:0012639	Abnormal nervous system morphology	3178	HNRNPA1	ORPHA:52430
HP:0012639	Abnormal nervous system morphology	3181	HNRNPA2B1	ORPHA:52430
HP:0012639	Abnormal nervous system morphology	318	NUDT2	OMIM:619844
HP:0012639	Abnormal nervous system morphology	283120	H19	ORPHA:2128
HP:0012639	Abnormal nervous system morphology	57128	LYRM4	OMIM:615595
HP:0012639	Abnormal nervous system morphology	4570	MT-TN	OMIM:220110
HP:0012639	Abnormal nervous system morphology	56997	COQ8A	ORPHA:139485
HP:0012639	Abnormal nervous system morphology	56997	COQ8A	OMIM:612016
HP:0012639	Abnormal nervous system morphology	1352	COX10	OMIM:619046
HP:0012639	Abnormal nervous system morphology	55967	NDUFA12	OMIM:618244
HP:0012639	Abnormal nervous system morphology	4705	NDUFA10	OMIM:618243
HP:0012639	Abnormal nervous system morphology	100303755	PET117	OMIM:619063
HP:0012639	Abnormal nervous system morphology	4697	NDUFA4	OMIM:619065
HP:0012639	Abnormal nervous system morphology	84300	UQCC2	OMIM:615824
HP:0012639	Abnormal nervous system morphology	10126	DNAL4	ORPHA:238722
HP:0012639	Abnormal nervous system morphology	9423	NTN1	ORPHA:238722
HP:0012639	Abnormal nervous system morphology	1630	DCC	ORPHA:238722
HP:0012639	Abnormal nervous system morphology	6182	MRPL12	OMIM:618951
HP:0012639	Abnormal nervous system morphology	2729	GCLC	ORPHA:33574
HP:0012639	Abnormal nervous system morphology	64601	VPS16	OMIM:619291
HP:0012639	Abnormal nervous system morphology	7384	UQCRC1	OMIM:619279
HP:0012639	Abnormal nervous system morphology	51473	DCDC2	ORPHA:84081
HP:0012639	Abnormal nervous system morphology	22872	SEC31A	OMIM:618651
HP:0012639	Abnormal nervous system morphology	5664	PSEN2	OMIM:606889
HP:0012639	Abnormal nervous system morphology	348	APOE	OMIM:606889
HP:0012639	Abnormal nervous system morphology	348	APOE	OMIM:607822
HP:0012639	Abnormal nervous system morphology	348	APOE	OMIM:104310
HP:0012639	Abnormal nervous system morphology	4353	MPO	OMIM:104300
HP:0012639	Abnormal nervous system morphology	4846	NOS3	OMIM:104300
HP:0012639	Abnormal nervous system morphology	5328	PLAU	OMIM:104300
HP:0012639	Abnormal nervous system morphology	351	APP	OMIM:104300
HP:0012639	Abnormal nervous system morphology	8913	CACNA1G	ORPHA:458803
HP:0012639	Abnormal nervous system morphology	10347	ABCA7	OMIM:608907
HP:0012639	Abnormal nervous system morphology	113235	SLC46A1	ORPHA:90045
HP:0012639	Abnormal nervous system morphology	8671	SLC4A4	OMIM:604278
HP:0012639	Abnormal nervous system morphology	3394	IRF8	OMIM:226990
HP:0012639	Abnormal nervous system morphology	3117	HLA-DQA1	OMIM:212750
HP:0012639	Abnormal nervous system morphology	1893	ECM1	ORPHA:530
HP:0012639	Abnormal nervous system morphology	4256	MGP	OMIM:245150
HP:0012639	Abnormal nervous system morphology	9365	KL	OMIM:617994
HP:0012639	Abnormal nervous system morphology	5741	PTH	OMIM:146200
HP:0012639	Abnormal nervous system morphology	56160	NSMCE3	OMIM:617241
HP:0012639	Abnormal nervous system morphology	79650	USB1	ORPHA:1775
HP:0012639	Abnormal nervous system morphology	55135	WRAP53	ORPHA:1775
HP:0012639	Abnormal nervous system morphology	4869	NPM1	ORPHA:1775
HP:0012639	Abnormal nervous system morphology	1188	CLCNKB	ORPHA:358
HP:0012639	Abnormal nervous system morphology	6559	SLC12A3	ORPHA:358
HP:0012639	Abnormal nervous system morphology	79783	SUGCT	ORPHA:35706
HP:0012639	Abnormal nervous system morphology	10479	SLC9A6	ORPHA:85278
HP:0012639	Abnormal nervous system morphology	10479	SLC9A6	OMIM:300243
HP:0012639	Abnormal nervous system morphology	54832	VPS13C	OMIM:616840
HP:0012639	Abnormal nervous system morphology	5173	PDYN	OMIM:610245
HP:0012639	Abnormal nervous system morphology	1509	CTSD	OMIM:610127
HP:0012639	Abnormal nervous system morphology	4864	NPC1	OMIM:257220
HP:0012639	Abnormal nervous system morphology	26580	BSCL2	ORPHA:363400
HP:0012639	Abnormal nervous system morphology	26580	BSCL2	OMIM:615924
HP:0012639	Abnormal nervous system morphology	8722	CTSF	OMIM:615362
HP:0012639	Abnormal nervous system morphology	126	ADH1C	OMIM:168600
HP:0012639	Abnormal nervous system morphology	4576	MT-TT	OMIM:168600
HP:0012639	Abnormal nervous system morphology	9627	SNCAIP	OMIM:168600
HP:0012639	Abnormal nervous system morphology	4929	NR4A2	OMIM:168600
HP:0012639	Abnormal nervous system morphology	8239	USP9X	ORPHA:480880
HP:0012639	Abnormal nervous system morphology	8239	USP9X	OMIM:300968
HP:0012639	Abnormal nervous system morphology	5457	POU4F1	ORPHA:314647
HP:0012639	Abnormal nervous system morphology	23261	CAMTA1	ORPHA:314647
HP:0012639	Abnormal nervous system morphology	80144	FRAS1	OMIM:219000
HP:0012639	Abnormal nervous system morphology	2736	GLI2	OMIM:610829
HP:0012639	Abnormal nervous system morphology	57511	COG6	OMIM:614576
HP:0012639	Abnormal nervous system morphology	116461	TSEN15	ORPHA:2524
HP:0012639	Abnormal nervous system morphology	79042	TSEN34	ORPHA:2524
HP:0012639	Abnormal nervous system morphology	80746	TSEN2	ORPHA:2524
HP:0012639	Abnormal nervous system morphology	11193	WBP4	OMIM:620852
HP:0012639	Abnormal nervous system morphology	4913	NTHL1	ORPHA:454840
HP:0012639	Abnormal nervous system morphology	4913	NTHL1	OMIM:616415
HP:0012639	Abnormal nervous system morphology	7486	WRN	ORPHA:902
HP:0012639	Abnormal nervous system morphology	7486	WRN	OMIM:277700
HP:0012639	Abnormal nervous system morphology	8665	EIF3F	OMIM:618295
HP:0012639	Abnormal nervous system morphology	4330	MN1	OMIM:607174
HP:0012639	Abnormal nervous system morphology	23405	DICER1	OMIM:601200
HP:0012639	Abnormal nervous system morphology	3458	IFNG	OMIM:613254
HP:0012639	Abnormal nervous system morphology	6253	RTN2	ORPHA:100993
HP:0012639	Abnormal nervous system morphology	51271	UBAP1	ORPHA:100993
HP:0012639	Abnormal nervous system morphology	126129	CPT1C	ORPHA:444099
HP:0012639	Abnormal nervous system morphology	3839	KPNA3	ORPHA:171612
HP:0012639	Abnormal nervous system morphology	7084	TK2	ORPHA:254886
HP:0012639	Abnormal nervous system morphology	5428	POLG	ORPHA:254886
HP:0012639	Abnormal nervous system morphology	9197	SLC33A1	ORPHA:171863
HP:0012639	Abnormal nervous system morphology	1786	DNMT1	ORPHA:314404
HP:0012639	Abnormal nervous system morphology	8659	ALDH4A1	ORPHA:79101
HP:0012639	Abnormal nervous system morphology	56244	BTNL2	ORPHA:797
HP:0012639	Abnormal nervous system morphology	3123	HLA-DRB1	ORPHA:797
HP:0012639	Abnormal nervous system morphology	6843	VAMP1	ORPHA:251282
HP:0012639	Abnormal nervous system morphology	5264	PHYH	OMIM:266500
HP:0012639	Abnormal nervous system morphology	5698	PSMB9	OMIM:620796
HP:0012639	Abnormal nervous system morphology	966	CD59	OMIM:612300
HP:0012639	Abnormal nervous system morphology	587	BCAT2	OMIM:618850
HP:0012639	Abnormal nervous system morphology	4509	MT-ATP8	ORPHA:480
HP:0012639	Abnormal nervous system morphology	50814	NSDHL	OMIM:308050
HP:0012639	Abnormal nervous system morphology	6785	ELOVL4	OMIM:614457
HP:0012639	Abnormal nervous system morphology	84947	SERAC1	OMIM:614739
HP:0012639	Abnormal nervous system morphology	429	ASCL1	ORPHA:99803
HP:0012639	Abnormal nervous system morphology	861	RUNX1	OMIM:601399
HP:0012639	Abnormal nervous system morphology	256646	NUTM1	ORPHA:443167
HP:0012639	Abnormal nervous system morphology	50846	DHH	ORPHA:168563
HP:0012639	Abnormal nervous system morphology	246243	RNASEH1	ORPHA:329336
HP:0012639	Abnormal nervous system morphology	6311	ATXN2	ORPHA:98756
HP:0012639	Abnormal nervous system morphology	9158	FIBP	ORPHA:500095
HP:0012639	Abnormal nervous system morphology	5781	PTPN11	ORPHA:500
HP:0012639	Abnormal nervous system morphology	5781	PTPN11	OMIM:151100
HP:0012639	Abnormal nervous system morphology	3664	IRF6	OMIM:119500
HP:0012639	Abnormal nervous system morphology	10584	COLEC10	ORPHA:293843
HP:0012639	Abnormal nervous system morphology	78989	COLEC11	ORPHA:293843
HP:0012639	Abnormal nervous system morphology	6885	MAP3K7	ORPHA:1826
HP:0012639	Abnormal nervous system morphology	3166	HMX1	OMIM:612109
HP:0012639	Abnormal nervous system morphology	7879	RAB7A	OMIM:600882
HP:0012639	Abnormal nervous system morphology	23095	KIF1B	OMIM:118210
HP:0012639	Abnormal nervous system morphology	8729	GBF1	OMIM:606483
HP:0012639	Abnormal nervous system morphology	10743	RAI1	ORPHA:477817
HP:0012639	Abnormal nervous system morphology	65125	WNK1	OMIM:201300
HP:0012639	Abnormal nervous system morphology	6335	SCN9A	OMIM:201300
HP:0012639	Abnormal nervous system morphology	81846	SBF2	OMIM:604563
HP:0012639	Abnormal nervous system morphology	121512	FGD4	OMIM:609311
HP:0012639	Abnormal nervous system morphology	5376	PMP22	OMIM:118220
HP:0012639	Abnormal nervous system morphology	5376	PMP22	OMIM:145900
HP:0012639	Abnormal nervous system morphology	5376	PMP22	OMIM:180800
HP:0012639	Abnormal nervous system morphology	4359	MPZ	OMIM:118200
HP:0012639	Abnormal nervous system morphology	4359	MPZ	OMIM:145900
HP:0012639	Abnormal nervous system morphology	4359	MPZ	OMIM:180800
HP:0012639	Abnormal nervous system morphology	57716	PRX	OMIM:145900
HP:0012639	Abnormal nervous system morphology	9516	LITAF	OMIM:601098
HP:0012639	Abnormal nervous system morphology	9639	ARHGEF10	OMIM:608236
HP:0012639	Abnormal nervous system morphology	6305	SBF1	OMIM:615284
HP:0012639	Abnormal nervous system morphology	5375	PMP2	OMIM:618279
HP:0012639	Abnormal nervous system morphology	1337	COX6A1	OMIM:616039
HP:0012639	Abnormal nervous system morphology	84668	HYCC1	OMIM:610532
HP:0012639	Abnormal nervous system morphology	8518	ELP1	OMIM:223900
HP:0012639	Abnormal nervous system morphology	23646	PLD3	OMIM:617770
HP:0012639	Abnormal nervous system morphology	3094	HINT1	ORPHA:324442
HP:0012639	Abnormal nervous system morphology	3094	HINT1	OMIM:137200
HP:0012639	Abnormal nervous system morphology	25923	ATL3	OMIM:615632
HP:0012639	Abnormal nervous system morphology	391356	PTRHD1	OMIM:620747
HP:0012639	Abnormal nervous system morphology	4762	NEUROG1	OMIM:620469
HP:0012639	Abnormal nervous system morphology	2259	FGF14	ORPHA:98764
HP:0012639	Abnormal nervous system morphology	25894	PLEKHG4	ORPHA:98765
HP:0012639	Abnormal nervous system morphology	6472	SHMT2	OMIM:619121
HP:0012639	Abnormal nervous system morphology	116228	COX20	OMIM:619054
HP:0012639	Abnormal nervous system morphology	7518	XRCC4	OMIM:616541
HP:0012639	Abnormal nervous system morphology	823	CAPN1	OMIM:616907
HP:0012639	Abnormal nervous system morphology	144165	PRICKLE1	OMIM:612437
HP:0012639	Abnormal nervous system morphology	2395	FXN	ORPHA:95
HP:0012639	Abnormal nervous system morphology	2294	FOXF1	OMIM:265380
HP:0012639	Abnormal nervous system morphology	3590	IL11RA	OMIM:614188
HP:0012639	Abnormal nervous system morphology	92002	CCNQ	ORPHA:140952
HP:0012639	Abnormal nervous system morphology	2192	FBLN1	ORPHA:404451
HP:0012639	Abnormal nervous system morphology	80204	FBXO11	OMIM:618089
HP:0012639	Abnormal nervous system morphology	6678	SPARC	OMIM:616507
HP:0012639	Abnormal nervous system morphology	8091	HMGA2	ORPHA:94063
HP:0012639	Abnormal nervous system morphology	23592	LEMD3	ORPHA:94063
HP:0012639	Abnormal nervous system morphology	860	RUNX2	OMIM:119600
HP:0012639	Abnormal nervous system morphology	25970	SH2B1	ORPHA:261197
HP:0012639	Abnormal nervous system morphology	6911	TBX6	OMIM:122600
HP:0012639	Abnormal nervous system morphology	8398	PLA2G6	ORPHA:35069
HP:0012639	Abnormal nervous system morphology	8139	GAN	ORPHA:643
HP:0012639	Abnormal nervous system morphology	2131	EXT1	ORPHA:321
HP:0012639	Abnormal nervous system morphology	2131	EXT1	OMIM:133700
HP:0012639	Abnormal nervous system morphology	2132	EXT2	ORPHA:321
HP:0012639	Abnormal nervous system morphology	2132	EXT2	OMIM:133701
HP:0012639	Abnormal nervous system morphology	158	ADSL	OMIM:103050
HP:0012639	Abnormal nervous system morphology	91452	ACBD5	OMIM:618863
HP:0012639	Abnormal nervous system morphology	8506	CNTNAP1	OMIM:618186
HP:0012639	Abnormal nervous system morphology	2517	FUCA1	OMIM:230000
HP:0012639	Abnormal nervous system morphology	60684	TRAPPC11	OMIM:615356
HP:0012639	Abnormal nervous system morphology	55505	NOP10	OMIM:620425
HP:0012639	Abnormal nervous system morphology	55627	SMPD4	OMIM:618622
HP:0012639	Abnormal nervous system morphology	79753	SNIP1	OMIM:614501
HP:0012639	Abnormal nervous system morphology	1119	CHKA	OMIM:620023
HP:0012639	Abnormal nervous system morphology	10280	SIGMAR1	ORPHA:300605
HP:0012639	Abnormal nervous system morphology	10558	SPTLC1	ORPHA:300605
HP:0012639	Abnormal nervous system morphology	221496	LEMD2	OMIM:619322
HP:0012639	Abnormal nervous system morphology	90522	YIF1B	OMIM:619125
HP:0012639	Abnormal nervous system morphology	1615	DARS1	OMIM:615281
HP:0012639	Abnormal nervous system morphology	3074	HEXB	OMIM:268800
HP:0012639	Abnormal nervous system morphology	3074	HEXB	ORPHA:309155
HP:0012639	Abnormal nervous system morphology	5859	QARS1	OMIM:615760
HP:0012639	Abnormal nervous system morphology	9442	MED27	OMIM:619286
HP:0012639	Abnormal nervous system morphology	5010	CLDN11	OMIM:619328
HP:0012639	Abnormal nervous system morphology	1650	DDOST	ORPHA:300536
HP:0012639	Abnormal nervous system morphology	64834	ELOVL1	OMIM:618527
HP:0012639	Abnormal nervous system morphology	205327	C2orf69	OMIM:619423
HP:0012639	Abnormal nervous system morphology	27152	INTU	OMIM:617926
HP:0012639	Abnormal nervous system morphology	7074	TIAM1	OMIM:619908
HP:0012639	Abnormal nervous system morphology	1134	CHRNA1	OMIM:601462
HP:0012639	Abnormal nervous system morphology	1134	CHRNA1	ORPHA:98913
HP:0012639	Abnormal nervous system morphology	8292	COLQ	ORPHA:98915
HP:0012639	Abnormal nervous system morphology	8292	COLQ	OMIM:603034
HP:0012639	Abnormal nervous system morphology	3913	LAMB2	ORPHA:98915
HP:0012639	Abnormal nervous system morphology	1145	CHRNE	OMIM:608931
HP:0012639	Abnormal nervous system morphology	1145	CHRNE	ORPHA:98913
HP:0012639	Abnormal nervous system morphology	2673	GFPT1	OMIM:608931
HP:0012639	Abnormal nervous system morphology	6329	SCN4A	ORPHA:98913
HP:0012639	Abnormal nervous system morphology	4038	LRP4	ORPHA:98913
HP:0012639	Abnormal nervous system morphology	1305	COL13A1	ORPHA:98913
HP:0012639	Abnormal nervous system morphology	1140	CHRNB1	ORPHA:98913
HP:0012639	Abnormal nervous system morphology	1144	CHRND	ORPHA:98913
HP:0012639	Abnormal nervous system morphology	4593	MUSK	ORPHA:98913
HP:0012639	Abnormal nervous system morphology	5913	RAPSN	ORPHA:98913
HP:0012639	Abnormal nervous system morphology	375790	AGRN	ORPHA:98913
HP:0012639	Abnormal nervous system morphology	221264	AK9	ORPHA:98913
HP:0012639	Abnormal nervous system morphology	285489	DOK7	ORPHA:98913
HP:0012639	Abnormal nervous system morphology	54936	ADPRS	OMIM:618170
HP:0012639	Abnormal nervous system morphology	6834	SURF1	OMIM:616684
HP:0012639	Abnormal nervous system morphology	7343	UBTF	OMIM:617672
HP:0012639	Abnormal nervous system morphology	64423	INF2	OMIM:614455
HP:0012639	Abnormal nervous system morphology	51008	ASCC1	OMIM:616867
HP:0012639	Abnormal nervous system morphology	9325	TRIP4	OMIM:616866
HP:0012639	Abnormal nervous system morphology	9896	FIG4	OMIM:611228
HP:0012639	Abnormal nervous system morphology	56704	JPH1	OMIM:607831
HP:0012639	Abnormal nervous system morphology	59345	GNB4	OMIM:615185
HP:0012639	Abnormal nervous system morphology	8565	YARS1	OMIM:608323
HP:0012639	Abnormal nervous system morphology	9326	ZNHIT3	OMIM:260565
HP:0012639	Abnormal nervous system morphology	291	SLC25A4	ORPHA:254892
HP:0012639	Abnormal nervous system morphology	56652	TWNK	ORPHA:254892
HP:0012639	Abnormal nervous system morphology	56652	TWNK	OMIM:607459
HP:0012639	Abnormal nervous system morphology	11232	POLG2	ORPHA:254892
HP:0012639	Abnormal nervous system morphology	11232	POLG2	OMIM:619425
HP:0012639	Abnormal nervous system morphology	9488	PIGB	OMIM:618580
HP:0012639	Abnormal nervous system morphology	23769	FLRT1	ORPHA:320406
HP:0012639	Abnormal nervous system morphology	64837	KLC2	ORPHA:320406
HP:0012639	Abnormal nervous system morphology	91574	MTRFR	ORPHA:254930
HP:0012639	Abnormal nervous system morphology	91574	MTRFR	OMIM:615035
HP:0012639	Abnormal nervous system morphology	80821	DDHD1	OMIM:609340
HP:0012639	Abnormal nervous system morphology	50717	DCAF8	OMIM:610100
HP:0012639	Abnormal nervous system morphology	57704	GBA2	ORPHA:352641
HP:0012639	Abnormal nervous system morphology	57704	GBA2	ORPHA:320391
HP:0012639	Abnormal nervous system morphology	673	BRAF	OMIM:115150
HP:0012639	Abnormal nervous system morphology	19	ABCA1	OMIM:205400
HP:0012639	Abnormal nervous system morphology	19	ABCA1	ORPHA:31150
HP:0012639	Abnormal nervous system morphology	5361	PLXNA1	OMIM:619955
HP:0012639	Abnormal nervous system morphology	23345	SYNE1	OMIM:610743
HP:0012639	Abnormal nervous system morphology	10516	FBLN5	OMIM:608895
HP:0012639	Abnormal nervous system morphology	274	BIN1	ORPHA:169189
HP:0012639	Abnormal nervous system morphology	64419	MTMR14	ORPHA:169189
HP:0012639	Abnormal nervous system morphology	4618	MYF6	ORPHA:169189
HP:0012639	Abnormal nervous system morphology	6261	RYR1	ORPHA:169189
HP:0012639	Abnormal nervous system morphology	59341	TRPV4	OMIM:156530
HP:0012639	Abnormal nervous system morphology	200205	IBA57	ORPHA:468661
HP:0012639	Abnormal nervous system morphology	200205	IBA57	OMIM:616451
HP:0012639	Abnormal nervous system morphology	81790	RNF170	OMIM:619686
HP:0012639	Abnormal nervous system morphology	55182	RNF220	OMIM:619688
HP:0012639	Abnormal nervous system morphology	547	KIF1A	OMIM:610357
HP:0012639	Abnormal nervous system morphology	547	KIF1A	OMIM:614255
HP:0012639	Abnormal nervous system morphology	10908	PNPLA6	OMIM:275400
HP:0012639	Abnormal nervous system morphology	5660	PSAP	OMIM:611722
HP:0012639	Abnormal nervous system morphology	271	AMPD2	OMIM:615809
HP:0012639	Abnormal nervous system morphology	3767	KCNJ11	ORPHA:99885
HP:0012639	Abnormal nervous system morphology	6774	STAT3	ORPHA:99885
HP:0012639	Abnormal nervous system morphology	2645	GCK	ORPHA:99885
HP:0012639	Abnormal nervous system morphology	3651	PDX1	ORPHA:99885
HP:0012639	Abnormal nervous system morphology	6833	ABCC8	ORPHA:99885
HP:0012639	Abnormal nervous system morphology	3630	INS	ORPHA:99885
HP:0012639	Abnormal nervous system morphology	8888	MCM3AP	OMIM:618124
HP:0012639	Abnormal nervous system morphology	23250	ATP11A	OMIM:619851
HP:0012639	Abnormal nervous system morphology	23321	TRIM2	OMIM:615490
HP:0012639	Abnormal nervous system morphology	4358	MPV17	OMIM:618400
HP:0012639	Abnormal nervous system morphology	4358	MPV17	OMIM:256810
HP:0012639	Abnormal nervous system morphology	10381	TUBB3	OMIM:600638
HP:0012639	Abnormal nervous system morphology	1778	DYNC1H1	OMIM:614563
HP:0012639	Abnormal nervous system morphology	55157	DARS2	ORPHA:137898
HP:0012639	Abnormal nervous system morphology	55157	DARS2	OMIM:611105
HP:0012639	Abnormal nervous system morphology	91137	SLC25A46	OMIM:616505
HP:0012639	Abnormal nervous system morphology	91137	SLC25A46	ORPHA:2254
HP:0012639	Abnormal nervous system morphology	54463	RETREG1	OMIM:613115
HP:0012639	Abnormal nervous system morphology	5351	PLOD1	ORPHA:1900
HP:0012639	Abnormal nervous system morphology	7276	TTR	OMIM:105210
HP:0012639	Abnormal nervous system morphology	2632	GBE1	OMIM:263570
HP:0012639	Abnormal nervous system morphology	10367	MICU1	ORPHA:401768
HP:0012639	Abnormal nervous system morphology	10367	MICU1	OMIM:615673
HP:0012639	Abnormal nervous system morphology	23400	ATP13A2	ORPHA:513436
HP:0012639	Abnormal nervous system morphology	23400	ATP13A2	OMIM:617225
HP:0012639	Abnormal nervous system morphology	2064	ERBB2	OMIM:619465
HP:0012639	Abnormal nervous system morphology	55775	TDP1	OMIM:607250
HP:0012639	Abnormal nervous system morphology	23230	VPS13A	ORPHA:2388
HP:0012639	Abnormal nervous system morphology	23230	VPS13A	OMIM:200150
HP:0012639	Abnormal nervous system morphology	55210	ATAD3A	OMIM:618810
HP:0012639	Abnormal nervous system morphology	55210	ATAD3A	ORPHA:496790
HP:0012639	Abnormal nervous system morphology	55210	ATAD3A	OMIM:617183
HP:0012639	Abnormal nervous system morphology	2783	GNB2	OMIM:619503
HP:0012639	Abnormal nervous system morphology	3475	IFRD1	ORPHA:98771
HP:0012639	Abnormal nervous system morphology	113612	CYP2U1	OMIM:615030
HP:0012639	Abnormal nervous system morphology	113612	CYP2U1	ORPHA:320411
HP:0012639	Abnormal nervous system morphology	65260	COA7	OMIM:618387
HP:0012639	Abnormal nervous system morphology	1660	DHX9	OMIM:620988
HP:0012639	Abnormal nervous system morphology	11340	EXOSC8	ORPHA:2254
HP:0012639	Abnormal nervous system morphology	5393	EXOSC9	ORPHA:2254
HP:0012639	Abnormal nervous system morphology	23287	AGTPBP1	ORPHA:2254
HP:0012639	Abnormal nervous system morphology	51010	EXOSC3	ORPHA:2254
HP:0012639	Abnormal nervous system morphology	60481	ELOVL5	OMIM:615957
HP:0012639	Abnormal nervous system morphology	7345	UCHL1	OMIM:620221
HP:0012639	Abnormal nervous system morphology	4311	MME	ORPHA:497764
HP:0012639	Abnormal nervous system morphology	3766	KCNJ10	ORPHA:199343
HP:0012639	Abnormal nervous system morphology	55958	KLHL9	ORPHA:399081
HP:0012639	Abnormal nervous system morphology	4076	CAPRIN1	OMIM:620636
HP:0012639	Abnormal nervous system morphology	51062	ATL1	OMIM:613708
HP:0012639	Abnormal nervous system morphology	80347	COASY	ORPHA:397725
HP:0012639	Abnormal nervous system morphology	1716	DGUOK	OMIM:617070
HP:0012639	Abnormal nervous system morphology	9147	NEMF	OMIM:619099
HP:0012639	Abnormal nervous system morphology	6709	SPTAN1	OMIM:620528
HP:0012639	Abnormal nervous system morphology	6709	SPTAN1	OMIM:620538
HP:0012639	Abnormal nervous system morphology	60386	SLC25A19	OMIM:613710
HP:0012639	Abnormal nervous system morphology	23533	PIK3R5	OMIM:615217
HP:0012639	Abnormal nervous system morphology	5832	ALDH18A1	ORPHA:447757
HP:0012639	Abnormal nervous system morphology	4556	MT-TE	ORPHA:2596
HP:0012639	Abnormal nervous system morphology	710	SERPING1	OMIM:106100
HP:0012639	Abnormal nervous system morphology	26353	HSPB8	OMIM:608673
HP:0012639	Abnormal nervous system morphology	4668	NAGA	OMIM:609242
HP:0012639	Abnormal nervous system morphology	3798	KIF5A	ORPHA:100991
HP:0012639	Abnormal nervous system morphology	7466	WFS1	ORPHA:411590
HP:0012639	Abnormal nervous system morphology	3315	HSPB1	ORPHA:99940
HP:0012639	Abnormal nervous system morphology	65055	REEP1	OMIM:620011
HP:0012639	Abnormal nervous system morphology	7054	TH	OMIM:605407
HP:0012639	Abnormal nervous system morphology	7054	TH	ORPHA:101150
HP:0012639	Abnormal nervous system morphology	9256	TSPOAP1	ORPHA:101150
HP:0012639	Abnormal nervous system morphology	8898	MTMR2	OMIM:601382
HP:0012639	Abnormal nervous system morphology	4665	NAB2	ORPHA:2126
HP:0012639	Abnormal nervous system morphology	6778	STAT6	ORPHA:2126
HP:0012639	Abnormal nervous system morphology	8929	PHOX2B	ORPHA:2151
HP:0012639	Abnormal nervous system morphology	8929	PHOX2B	ORPHA:635
HP:0012639	Abnormal nervous system morphology	4613	MYCN	ORPHA:635
HP:0012639	Abnormal nervous system morphology	238	ALK	ORPHA:635
HP:0012639	Abnormal nervous system morphology	389421	LIN28B	ORPHA:635
HP:0012639	Abnormal nervous system morphology	4004	LMO1	ORPHA:635
HP:0012639	Abnormal nervous system morphology	57531	HACE1	ORPHA:635
HP:0012639	Abnormal nervous system morphology	79944	L2HGDH	ORPHA:79314
HP:0012639	Abnormal nervous system morphology	57194	ATP10A	ORPHA:411515
HP:0012639	Abnormal nervous system morphology	1289	COL5A1	OMIM:619329
HP:0012639	Abnormal nervous system morphology	5589	PRKCSH	OMIM:174050
HP:0012639	Abnormal nervous system morphology	5589	PRKCSH	ORPHA:2924
HP:0012639	Abnormal nervous system morphology	4796	TONSL	ORPHA:93357
HP:0012639	Abnormal nervous system morphology	1277	COL1A1	ORPHA:287
HP:0012639	Abnormal nervous system morphology	1290	COL5A2	ORPHA:287
HP:0012639	Abnormal nervous system morphology	11231	SEC63	ORPHA:2924
HP:0012639	Abnormal nervous system morphology	335	APOA1	OMIM:620657
HP:0012639	Abnormal nervous system morphology	10621	POLR3F	OMIM:619872
HP:0012639	Abnormal nervous system morphology	2653	GCSH	OMIM:620423
HP:0012639	Abnormal nervous system morphology	6571	SLC18A2	ORPHA:352649
HP:0012639	Abnormal nervous system morphology	22854	NTNG1	ORPHA:3095
HP:0012639	Abnormal nervous system morphology	55610	VPS50	OMIM:619685
HP:0012639	Abnormal nervous system morphology	22796	COG2	OMIM:617395
HP:0012639	Abnormal nervous system morphology	22796	COG2	ORPHA:435934
HP:0012639	Abnormal nervous system morphology	54543	TOMM7	OMIM:620601
HP:0012639	Abnormal nervous system morphology	55858	TMEM165	OMIM:614727
HP:0012639	Abnormal nervous system morphology	22845	DOLK	OMIM:610768
HP:0012639	Abnormal nervous system morphology	10087	CERT1	OMIM:616351
HP:0012639	Abnormal nervous system morphology	22884	WDR37	OMIM:618652
HP:0012639	Abnormal nervous system morphology	56947	MFF	ORPHA:485421
HP:0012639	Abnormal nervous system morphology	56947	MFF	OMIM:617086
HP:0012639	Abnormal nervous system morphology	118924	FRA10AC1	OMIM:620113
HP:0012639	Abnormal nervous system morphology	2733	GLE1	OMIM:611890
HP:0012639	Abnormal nervous system morphology	7317	UBA1	ORPHA:1145
HP:0012639	Abnormal nervous system morphology	84992	PIGY	ORPHA:247262
HP:0012639	Abnormal nervous system morphology	8604	SLC25A12	OMIM:612949
HP:0012639	Abnormal nervous system morphology	23229	ARHGEF9	OMIM:300607
HP:0012639	Abnormal nervous system morphology	9420	CYP7B1	ORPHA:100986
HP:0012639	Abnormal nervous system morphology	9254	CACNA2D2	OMIM:618501
HP:0012639	Abnormal nervous system morphology	1742	DLG4	OMIM:618793
HP:0012639	Abnormal nervous system morphology	11261	CHP1	OMIM:618438
HP:0012639	Abnormal nervous system morphology	57410	SCYL1	ORPHA:466794
HP:0012639	Abnormal nervous system morphology	57410	SCYL1	OMIM:616719
HP:0012639	Abnormal nervous system morphology	476	ATP1A1	ORPHA:564178
HP:0012639	Abnormal nervous system morphology	3426	CFI	OMIM:610984
HP:0012639	Abnormal nervous system morphology	4615	MYD88	OMIM:612260
HP:0012639	Abnormal nervous system morphology	24142	NAA80	OMIM:620830
HP:0012639	Abnormal nervous system morphology	90161	HS6ST2	OMIM:301025
HP:0012639	Abnormal nervous system morphology	129685	TAF8	OMIM:619972
HP:0012639	Abnormal nervous system morphology	200734	SPRED2	OMIM:619745
HP:0012639	Abnormal nervous system morphology	284252	KCTD1	OMIM:181270
HP:0012639	Abnormal nervous system morphology	1075	CTSC	OMIM:245000
HP:0012639	Abnormal nervous system morphology	80267	EDEM3	OMIM:619493
HP:0012639	Abnormal nervous system morphology	1642	DDB1	OMIM:619426
HP:0012639	Abnormal nervous system morphology	4713	NDUFB7	OMIM:620135
HP:0012639	Abnormal nervous system morphology	23636	NUP62	ORPHA:225154
HP:0012639	Abnormal nervous system morphology	53371	NUP54	ORPHA:225154
HP:0012639	Abnormal nervous system morphology	64856	VWA1	OMIM:619216
HP:0012639	Abnormal nervous system morphology	29926	GMPPA	ORPHA:869
HP:0012639	Abnormal nervous system morphology	8086	AAAS	ORPHA:869
HP:0012639	Abnormal nervous system morphology	8086	AAAS	OMIM:231550
HP:0012639	Abnormal nervous system morphology	57599	WDR48	ORPHA:401800
HP:0012639	Abnormal nervous system morphology	7504	XK	OMIM:300842
HP:0012639	Abnormal nervous system morphology	51305	KCNK9	ORPHA:166108
HP:0012639	Abnormal nervous system morphology	9517	SPTLC2	ORPHA:36386
HP:0012639	Abnormal nervous system morphology	51099	ABHD5	ORPHA:98907
HP:0012639	Abnormal nervous system morphology	7167	TPI1	ORPHA:868
HP:0012639	Abnormal nervous system morphology	112755	STX1B	ORPHA:36387
HP:0012639	Abnormal nervous system morphology	26173	INTS1	OMIM:618571
HP:0012639	Abnormal nervous system morphology	113278	SLC52A3	OMIM:211530
HP:0012639	Abnormal nervous system morphology	9772	TMEM94	OMIM:618316
HP:0012639	Abnormal nervous system morphology	135	ADORA2A	ORPHA:363549
HP:0012639	Abnormal nervous system morphology	1890	TYMP	ORPHA:298
HP:0012639	Abnormal nervous system morphology	3980	LIG3	ORPHA:298
HP:0012639	Abnormal nervous system morphology	50484	RRM2B	ORPHA:298
HP:0012639	Abnormal nervous system morphology	5981	RFC1	ORPHA:504476
HP:0012639	Abnormal nervous system morphology	51651	PTRH2	OMIM:616263
HP:0012639	Abnormal nervous system morphology	23312	DMXL2	ORPHA:453533
HP:0012639	Abnormal nervous system morphology	4897	NRCAM	OMIM:619833
HP:0012639	Abnormal nervous system morphology	8560	DEGS1	OMIM:618404
HP:0012639	Abnormal nervous system morphology	7841	MOGS	OMIM:606056
HP:0012639	Abnormal nervous system morphology	11145	PLAAT3	OMIM:620683
HP:0012639	Abnormal nervous system morphology	57731	SPTBN4	OMIM:617519
HP:0012639	Abnormal nervous system morphology	10939	AFG3L2	ORPHA:313772
HP:0012639	Abnormal nervous system morphology	3098	HK1	ORPHA:99953
HP:0012639	Abnormal nervous system morphology	10397	NDRG1	ORPHA:99950
HP:0012639	Abnormal nervous system morphology	4535	MT-ND1	ORPHA:255210
HP:0012639	Abnormal nervous system morphology	4536	MT-ND2	ORPHA:255210
HP:0012639	Abnormal nervous system morphology	4537	MT-ND3	ORPHA:255210
HP:0012639	Abnormal nervous system morphology	4538	MT-ND4	ORPHA:255210
HP:0012639	Abnormal nervous system morphology	4567	MT-TL1	ORPHA:255210
HP:0012639	Abnormal nervous system morphology	4578	MT-TW	ORPHA:255210
HP:0012639	Abnormal nervous system morphology	4577	MT-TV	ORPHA:255210
HP:0012639	Abnormal nervous system morphology	4508	MT-ATP6	ORPHA:255210
HP:0012639	Abnormal nervous system morphology	4540	MT-ND5	ORPHA:255210
HP:0012639	Abnormal nervous system morphology	4541	MT-ND6	ORPHA:255210
HP:0012639	Abnormal nervous system morphology	4566	MT-TK	ORPHA:255210
HP:0012639	Abnormal nervous system morphology	26278	SACS	ORPHA:98
HP:0012639	Abnormal nervous system morphology	5611	DNAJC3	ORPHA:445062
HP:0012639	Abnormal nervous system morphology	55703	POLR3B	OMIM:619742
HP:0012639	Abnormal nervous system morphology	23503	ZFYVE26	ORPHA:100996
HP:0012639	Abnormal nervous system morphology	4126	MANBA	OMIM:248510
HP:0012639	Abnormal nervous system morphology	26090	ABHD12	OMIM:612674
HP:0012639	Abnormal nervous system morphology	2068	ERCC2	ORPHA:220295
HP:0012639	Abnormal nervous system morphology	2073	ERCC5	ORPHA:220295
HP:0012639	Abnormal nervous system morphology	50	ACO2	OMIM:614559
HP:0012639	Abnormal nervous system morphology	3035	HARS1	ORPHA:488333
HP:0012639	Abnormal nervous system morphology	9531	BAG3	OMIM:612954
HP:0012639	Abnormal nervous system morphology	7443	VRK1	OMIM:607596
HP:0012639	Abnormal nervous system morphology	6663	SOX10	OMIM:609136
HP:0012639	Abnormal nervous system morphology	10535	RNASEH2A	ORPHA:51
HP:0012639	Abnormal nervous system morphology	84153	RNASEH2C	ORPHA:51
HP:0012639	Abnormal nervous system morphology	25939	SAMHD1	ORPHA:51
HP:0012639	Abnormal nervous system morphology	79621	RNASEH2B	ORPHA:51
HP:0012639	Abnormal nervous system morphology	103	ADAR	ORPHA:51
HP:0012639	Abnormal nervous system morphology	100147744	RNU7-1	ORPHA:51
HP:0012639	Abnormal nervous system morphology	134353	LSM11	ORPHA:51
HP:0012639	Abnormal nervous system morphology	64135	IFIH1	ORPHA:51
HP:0012639	Abnormal nervous system morphology	165918	RNF168	ORPHA:420741
HP:0012639	Abnormal nervous system morphology	9990	SLC12A6	OMIM:218000
HP:0012639	Abnormal nervous system morphology	790955	UQCC3	OMIM:616111
HP:0012639	Abnormal nervous system morphology	9817	KEAP1	ORPHA:276399
HP:0012639	Abnormal nervous system morphology	23522	KAT6B	OMIM:606170
HP:0012639	Abnormal nervous system morphology	5162	PDHB	ORPHA:255138
HP:0012639	Abnormal nervous system morphology	22983	MAST1	OMIM:618273
HP:0012639	Abnormal nervous system morphology	55790	CSGALNACT1	OMIM:618870
HP:0012639	Abnormal nervous system morphology	84148	KAT8	OMIM:618974
HP:0012639	Abnormal nervous system morphology	8449	DHX16	OMIM:618733
HP:0012639	Abnormal nervous system morphology	112	ADCY6	OMIM:616287
HP:0012639	Abnormal nervous system morphology	51204	TACO1	OMIM:619052
HP:0012639	Abnormal nervous system morphology	57107	PDSS2	OMIM:614652
HP:0012639	Abnormal nervous system morphology	3949	LDLR	ORPHA:391665
HP:0012639	Abnormal nervous system morphology	255738	PCSK9	ORPHA:391665
HP:0012639	Abnormal nervous system morphology	26119	LDLRAP1	ORPHA:391665
HP:0012639	Abnormal nervous system morphology	338	APOB	ORPHA:391665
HP:0012639	Abnormal nervous system morphology	64240	ABCG5	ORPHA:391665
HP:0012639	Abnormal nervous system morphology	64241	ABCG8	ORPHA:391665
HP:0012639	Abnormal nervous system morphology	85465	SELENOI	ORPHA:506353
HP:0012639	Abnormal nervous system morphology	4803	NGF	ORPHA:64752
HP:0012639	Abnormal nervous system morphology	4914	NTRK1	ORPHA:64752
HP:0012639	Abnormal nervous system morphology	4914	NTRK1	OMIM:256800
HP:0012639	Abnormal nervous system morphology	1513	CTSK	ORPHA:763
HP:0012639	Abnormal nervous system morphology	136647	MPLKIP	ORPHA:33364
HP:0012639	Abnormal nervous system morphology	6897	TARS1	ORPHA:33364
HP:0012639	Abnormal nervous system morphology	2961	GTF2E2	ORPHA:33364
HP:0012639	Abnormal nervous system morphology	57192	MCOLN1	OMIM:252650
HP:0012639	Abnormal nervous system morphology	714	C1QC	OMIM:620322
HP:0012639	Abnormal nervous system morphology	3561	IL2RG	OMIM:300400
HP:0012639	Abnormal nervous system morphology	54148	MRPL39	OMIM:620646
HP:0012639	Abnormal nervous system morphology	3643	INSR	ORPHA:769
HP:0012639	Abnormal nervous system morphology	224	ALDH3A2	OMIM:270200
HP:0012639	Abnormal nervous system morphology	3119	HLA-DQB1	OMIM:126200
HP:0012639	Abnormal nervous system morphology	9997	SCO2	OMIM:604377
HP:0012639	Abnormal nervous system morphology	4558	MT-TF	ORPHA:550
HP:0012639	Abnormal nervous system morphology	4572	MT-TQ	ORPHA:550
HP:0012639	Abnormal nervous system morphology	4512	MT-CO1	ORPHA:550
HP:0012639	Abnormal nervous system morphology	4513	MT-CO2	ORPHA:550
HP:0012639	Abnormal nervous system morphology	4514	MT-CO3	ORPHA:550
HP:0012639	Abnormal nervous system morphology	4574	MT-TS1	ORPHA:550
HP:0012639	Abnormal nervous system morphology	4575	MT-TS2	ORPHA:550
HP:0012639	Abnormal nervous system morphology	4564	MT-TH	ORPHA:550
HP:0012639	Abnormal nervous system morphology	540	ATP7B	OMIM:277900
HP:0012639	Abnormal nervous system morphology	4747	NEFL	ORPHA:101085
HP:0012639	Abnormal nervous system morphology	7072	TIA1	OMIM:619133
HP:0012639	Abnormal nervous system morphology	7277	TUBA4A	OMIM:616208
HP:0012639	Abnormal nervous system morphology	23476	BRD4	ORPHA:199
HP:0012639	Abnormal nervous system morphology	9126	SMC3	ORPHA:199
HP:0012639	Abnormal nervous system morphology	6878	TAF6	ORPHA:199
HP:0012639	Abnormal nervous system morphology	25836	NIPBL	ORPHA:199
HP:0012639	Abnormal nervous system morphology	55869	HDAC8	ORPHA:199
HP:0012639	Abnormal nervous system morphology	5885	RAD21	ORPHA:199
HP:0012639	Abnormal nervous system morphology	7399	USH2A	ORPHA:231178
HP:0012639	Abnormal nervous system morphology	79955	PDZD7	ORPHA:231178
HP:0012639	Abnormal nervous system morphology	4647	MYO7A	ORPHA:231178
HP:0012639	Abnormal nervous system morphology	4647	MYO7A	ORPHA:231169
HP:0012639	Abnormal nervous system morphology	25861	WHRN	ORPHA:231178
HP:0012639	Abnormal nervous system morphology	84059	ADGRV1	ORPHA:231178
HP:0012639	Abnormal nervous system morphology	27238	GPKOW	ORPHA:2570
HP:0012639	Abnormal nervous system morphology	1654	DDX3X	ORPHA:3338
HP:0012639	Abnormal nervous system morphology	9640	ZNF592	ORPHA:83472
HP:0012639	Abnormal nervous system morphology	57231	SNX14	ORPHA:397709
HP:0012639	Abnormal nervous system morphology	389827	MYMK	ORPHA:1358
HP:0012639	Abnormal nervous system morphology	101929726	MYMX	ORPHA:1358
HP:0012639	Abnormal nervous system morphology	2067	ERCC1	ORPHA:1466
HP:0012639	Abnormal nervous system morphology	4693	NDP	ORPHA:649
HP:0012639	Abnormal nervous system morphology	64072	CDH23	ORPHA:231169
HP:0012639	Abnormal nervous system morphology	10083	USH1C	ORPHA:231169
HP:0012639	Abnormal nervous system morphology	124590	USH1G	ORPHA:231169
HP:0012639	Abnormal nervous system morphology	83715	ESPN	ORPHA:231169
HP:0012639	Abnormal nervous system morphology	10518	CIB2	ORPHA:231169
HP:0012639	Abnormal nervous system morphology	65217	PCDH15	ORPHA:231169
HP:0012639	Abnormal nervous system morphology	54872	PIGG	ORPHA:280
HP:0012639	Abnormal nervous system morphology	7469	NELFA	ORPHA:280
HP:0012639	Abnormal nervous system morphology	9184	BUB3	ORPHA:1052
HP:0012639	Abnormal nervous system morphology	699	BUB1	ORPHA:1052
HP:0012639	Abnormal nervous system morphology	9702	CEP57	ORPHA:1052
HP:0012639	Abnormal nervous system morphology	9319	TRIP13	ORPHA:1052
HP:0012639	Abnormal nervous system morphology	219285	SAMD9L	ORPHA:2585
HP:0012639	Abnormal nervous system morphology	10059	DNM1L	ORPHA:98673
HP:0012639	Abnormal nervous system morphology	4976	OPA1	ORPHA:98673
HP:0012639	Abnormal nervous system morphology	535	ATP6V0A1	OMIM:619971
HP:0012639	Abnormal nervous system morphology	84340	GFM2	ORPHA:565624
HP:0012639	Abnormal nervous system morphology	9512	PMPCB	OMIM:617954
HP:0012639	Abnormal nervous system morphology	131118	DNAJC19	ORPHA:66634
HP:0012639	Abnormal nervous system morphology	51608	GET4	OMIM:620200
HP:0012639	Abnormal nervous system morphology	10715	CERS1	OMIM:616230
HP:0012639	Abnormal nervous system morphology	10935	PRDX3	OMIM:619862
HP:0012639	Abnormal nervous system morphology	8295	TRRAP	OMIM:618454
HP:0012639	Abnormal nervous system morphology	122553	TRAPPC6B	OMIM:617862
HP:0012639	Abnormal nervous system morphology	84342	COG8	OMIM:611182
HP:0012639	Abnormal nervous system morphology	84342	COG8	ORPHA:95428
HP:0012639	Abnormal nervous system morphology	1892	ECHS1	OMIM:616277
HP:0012639	Abnormal nervous system morphology	57038	RARS2	OMIM:611523
HP:0012639	Abnormal nervous system morphology	6310	ATXN1	ORPHA:98755
HP:0012639	Abnormal nervous system morphology	3708	ITPR1	OMIM:117360
HP:0012639	Abnormal nervous system morphology	4036	LRP2	OMIM:222448
HP:0012639	Abnormal nervous system morphology	4036	LRP2	ORPHA:2143
HP:0012639	Abnormal nervous system morphology	26275	HIBCH	ORPHA:88639
HP:0012639	Abnormal nervous system morphology	51715	RAB23	OMIM:201000
HP:0012639	Abnormal nervous system morphology	51114	ZDHHC9	ORPHA:776
HP:0012639	Abnormal nervous system morphology	65109	UPF3B	ORPHA:776
HP:0012639	Abnormal nervous system morphology	257	ALX3	ORPHA:391474
HP:0012639	Abnormal nervous system morphology	4099	MAG	OMIM:616680
HP:0012639	Abnormal nervous system morphology	777	CACNA1E	OMIM:618285
HP:0012639	Abnormal nervous system morphology	84631	SLITRK2	OMIM:301107
HP:0012639	Abnormal nervous system morphology	51761	ATP8A2	OMIM:615268
HP:0012639	Abnormal nervous system morphology	8890	EIF2B4	OMIM:620314
HP:0012639	Abnormal nervous system morphology	55131	RBM28	ORPHA:157954
HP:0012639	Abnormal nervous system morphology	79639	TMEM53	OMIM:619727
HP:0012639	Abnormal nervous system morphology	84196	USP48	ORPHA:96253
HP:0012639	Abnormal nervous system morphology	9101	USP8	ORPHA:96253
HP:0012639	Abnormal nervous system morphology	2908	NR3C1	ORPHA:96253
HP:0012639	Abnormal nervous system morphology	1593	CYP27A1	ORPHA:909
HP:0012639	Abnormal nervous system morphology	389692	MAFA	OMIM:147630
HP:0012639	Abnormal nervous system morphology	1621	DBH	OMIM:223360
HP:0012639	Abnormal nervous system morphology	3547	IGSF1	OMIM:300888
HP:0012639	Abnormal nervous system morphology	8675	STX16	ORPHA:94089
HP:0012639	Abnormal nervous system morphology	1730	DIAPH2	OMIM:300511
HP:0012639	Abnormal nervous system morphology	2100	ESR2	OMIM:618187
HP:0012639	Abnormal nervous system morphology	147872	KASH5	OMIM:620548
HP:0012639	Abnormal nervous system morphology	84515	MCM8	OMIM:612885
HP:0012639	Abnormal nervous system morphology	7555	CNBP	OMIM:602668
HP:0012639	Abnormal nervous system morphology	317761	C14orf39	OMIM:619203
HP:0012639	Abnormal nervous system morphology	3972	LHB	OMIM:228300
HP:0012639	Abnormal nervous system morphology	164045	HFM1	OMIM:615724
HP:0012639	Abnormal nervous system morphology	84634	KISS1R	OMIM:176400
HP:0012639	Abnormal nervous system morphology	84690	SPATA22	OMIM:621002
HP:0012639	Abnormal nervous system morphology	254394	MCM9	OMIM:616185
HP:0012639	Abnormal nervous system morphology	221711	SYCP2L	OMIM:620840
HP:0012639	Abnormal nervous system morphology	658	BMPR1B	OMIM:609441
HP:0012639	Abnormal nervous system morphology	367	AR	OMIM:300068
HP:0012639	Abnormal nervous system morphology	84733	CBX2	OMIM:613080
HP:0012639	Abnormal nervous system morphology	93953	GCNA	OMIM:301077
HP:0012639	Abnormal nervous system morphology	2661	GDF9	OMIM:618014
HP:0012639	Abnormal nervous system morphology	344018	FIGLA	OMIM:612310
HP:0012639	Abnormal nervous system morphology	78995	HROB	OMIM:620897
HP:0012639	Abnormal nervous system morphology	7200	TRH	OMIM:275120
HP:0012639	Abnormal nervous system morphology	3952	LEP	ORPHA:66628
HP:0012639	Abnormal nervous system morphology	1690	COCH	OMIM:601369
HP:0012639	Abnormal nervous system morphology	64324	NSD1	ORPHA:821
HP:0012639	Abnormal nervous system morphology	4437	MSH3	OMIM:617100
HP:0012639	Abnormal nervous system morphology	4437	MSH3	ORPHA:480536
HP:0012639	Abnormal nervous system morphology	3418	IDH2	ORPHA:163634
HP:0012639	Abnormal nervous system morphology	4763	NF1	OMIM:162200
HP:0012639	Abnormal nervous system morphology	4763	NF1	ORPHA:97685
HP:0012639	Abnormal nervous system morphology	6608	SMO	OMIM:241800
HP:0012639	Abnormal nervous system morphology	4771	NF2	ORPHA:637
HP:0012639	Abnormal nervous system morphology	2303	FOXC2	ORPHA:33001
HP:0012639	Abnormal nervous system morphology	23265	EXOC7	OMIM:619072
HP:0012639	Abnormal nervous system morphology	1457	CSNK2A1	OMIM:617062
HP:0012639	Abnormal nervous system morphology	91875	TTC5	OMIM:619244
HP:0012639	Abnormal nervous system morphology	10293	TRAIP	OMIM:616777
HP:0012639	Abnormal nervous system morphology	7280	TUBB2A	OMIM:615763
HP:0012639	Abnormal nervous system morphology	6597	SMARCA4	ORPHA:1465
HP:0012639	Abnormal nervous system morphology	6659	SOX4	ORPHA:1465
HP:0012639	Abnormal nervous system morphology	8289	ARID1A	ORPHA:1465
HP:0012639	Abnormal nervous system morphology	5977	DPF2	ORPHA:1465
HP:0012639	Abnormal nervous system morphology	6601	SMARCC2	ORPHA:1465
HP:0012639	Abnormal nervous system morphology	6602	SMARCD1	ORPHA:1465
HP:0012639	Abnormal nervous system morphology	196528	ARID2	ORPHA:1465
HP:0012639	Abnormal nervous system morphology	6664	SOX11	ORPHA:1465
HP:0012639	Abnormal nervous system morphology	7436	VLDLR	OMIM:224050
HP:0012639	Abnormal nervous system morphology	267010	RNU12	OMIM:620208
HP:0012639	Abnormal nervous system morphology	85459	CEP295	OMIM:620767
HP:0012639	Abnormal nervous system morphology	10015	PDCD6IP	OMIM:620047
HP:0012639	Abnormal nervous system morphology	84081	NSRP1	OMIM:620001
HP:0012639	Abnormal nervous system morphology	1781	DYNC1I2	OMIM:618492
HP:0012639	Abnormal nervous system morphology	3832	KIF11	OMIM:152950
HP:0012639	Abnormal nervous system morphology	29980	DONSON	OMIM:617604
HP:0012639	Abnormal nervous system morphology	29980	DONSON	OMIM:251230
HP:0012639	Abnormal nervous system morphology	4548	MTR	OMIM:601634
HP:0012639	Abnormal nervous system morphology	4522	MTHFD1	OMIM:601634
HP:0012639	Abnormal nervous system morphology	3835	KIF22	OMIM:603546
HP:0012639	Abnormal nervous system morphology	6023	RMRP	ORPHA:175
HP:0012639	Abnormal nervous system morphology	23498	HAAO	OMIM:617660
HP:0012639	Abnormal nervous system morphology	9790	BMS1	ORPHA:1114
HP:0012639	Abnormal nervous system morphology	5339	PLEC	ORPHA:1114
HP:0012639	Abnormal nervous system morphology	10054	UBA2	ORPHA:1114
HP:0012639	Abnormal nervous system morphology	3691	ITGB4	ORPHA:1114
HP:0012639	Abnormal nervous system morphology	54567	DLL4	ORPHA:1114
HP:0012639	Abnormal nervous system morphology	51339	DACT1	ORPHA:63260
HP:0012639	Abnormal nervous system morphology	6662	SOX9	OMIM:114290
HP:0012639	Abnormal nervous system morphology	388015	RTL1	ORPHA:96334
HP:0012639	Abnormal nervous system morphology	8788	DLK1	ORPHA:96334
HP:0012639	Abnormal nervous system morphology	55384	MEG3	ORPHA:96334
HP:0012639	Abnormal nervous system morphology	65998	ZFTA	ORPHA:251636
HP:0012639	Abnormal nervous system morphology	2313	FLI1	ORPHA:370348
HP:0012639	Abnormal nervous system morphology	5456	POU3F4	ORPHA:1435
HP:0012639	Abnormal nervous system morphology	2688	GH1	OMIM:173100
HP:0012639	Abnormal nervous system morphology	148867	SLC30A7	OMIM:620501
HP:0012639	Abnormal nervous system morphology	6926	TBX3	OMIM:181450
HP:0012639	Abnormal nervous system morphology	2692	GHRHR	OMIM:618157
HP:0012639	Abnormal nervous system morphology	55209	SETD5	ORPHA:404440
HP:0012639	Abnormal nervous system morphology	29998	BICRA	OMIM:619325
HP:0012639	Abnormal nervous system morphology	6599	SMARCC1	OMIM:620241
HP:0012639	Abnormal nervous system morphology	23030	KDM4B	OMIM:619320
HP:0012639	Abnormal nervous system morphology	10749	KIF1C	ORPHA:397946
HP:0012639	Abnormal nervous system morphology	4547	MTTP	OMIM:200100
HP:0012639	Abnormal nervous system morphology	27247	NFU1	OMIM:620938
HP:0012639	Abnormal nervous system morphology	4143	MAT1A	OMIM:250850
HP:0012639	Abnormal nervous system morphology	285362	SUMF1	OMIM:272200
HP:0012639	Abnormal nervous system morphology	10229	COQ7	OMIM:616733
HP:0012639	Abnormal nervous system morphology	79152	FA2H	ORPHA:171629
HP:0012639	Abnormal nervous system morphology	410	ARSA	OMIM:250100
HP:0012639	Abnormal nervous system morphology	84987	COX14	OMIM:619053
HP:0012639	Abnormal nervous system morphology	54828	BCAS3	OMIM:619641
HP:0012639	Abnormal nervous system morphology	84706	GPT2	ORPHA:477673
HP:0012639	Abnormal nervous system morphology	57498	KIDINS220	ORPHA:521390
HP:0012639	Abnormal nervous system morphology	2548	GAA	OMIM:232300
HP:0012639	Abnormal nervous system morphology	8635	RNASET2	OMIM:612951
HP:0012639	Abnormal nervous system morphology	2071	ERCC3	OMIM:610651
HP:0012639	Abnormal nervous system morphology	23729	SHPK	ORPHA:440713
HP:0012639	Abnormal nervous system morphology	5238	PGM3	OMIM:615816
HP:0012639	Abnormal nervous system morphology	3425	IDUA	OMIM:607014
HP:0012639	Abnormal nervous system morphology	9918	NCAPD2	OMIM:617983
HP:0012639	Abnormal nervous system morphology	1984	EIF5A	OMIM:619376
HP:0012639	Abnormal nervous system morphology	51294	PCDH12	OMIM:251280
HP:0012639	Abnormal nervous system morphology	6045	RNF2	OMIM:619460
HP:0012639	Abnormal nervous system morphology	4905	NSF	OMIM:619340
HP:0012639	Abnormal nervous system morphology	3712	IVD	OMIM:243500
HP:0012639	Abnormal nervous system morphology	9095	TBX19	OMIM:201400
HP:0012639	Abnormal nervous system morphology	84133	ZNRF3	ORPHA:1501
HP:0012639	Abnormal nervous system morphology	3284	HSD3B2	ORPHA:90791
HP:0012639	Abnormal nervous system morphology	80222	TARS2	OMIM:615918
HP:0012639	Abnormal nervous system morphology	5071	PRKN	OMIM:600116
HP:0012639	Abnormal nervous system morphology	25793	FBXO7	ORPHA:171695
HP:0012639	Abnormal nervous system morphology	2488	FSHB	OMIM:229070
HP:0012639	Abnormal nervous system morphology	55773	TBC1D23	OMIM:617695
HP:0012639	Abnormal nervous system morphology	94005	PIGS	OMIM:618143
HP:0012639	Abnormal nervous system morphology	9681	DEPDC5	OMIM:620504
HP:0012639	Abnormal nervous system morphology	2972	BRF1	OMIM:616202
HP:0012639	Abnormal nervous system morphology	2972	BRF1	ORPHA:444072
HP:0012639	Abnormal nervous system morphology	85440	DOCK7	ORPHA:411986
HP:0012639	Abnormal nervous system morphology	85440	DOCK7	OMIM:615859
HP:0012639	Abnormal nervous system morphology	4190	MDH1	OMIM:618959
HP:0012639	Abnormal nervous system morphology	10297	APC2	OMIM:618677
HP:0012639	Abnormal nervous system morphology	64221	ROBO3	OMIM:607313
HP:0012639	Abnormal nervous system morphology	6595	SMARCA2	OMIM:619293
HP:0012639	Abnormal nervous system morphology	10273	STUB1	ORPHA:412057
HP:0012639	Abnormal nervous system morphology	738	VPS51	OMIM:618606
HP:0012639	Abnormal nervous system morphology	9439	MED23	OMIM:614249
HP:0012639	Abnormal nervous system morphology	10195	ALG3	ORPHA:79321
HP:0012639	Abnormal nervous system morphology	8884	SLC5A6	OMIM:618973
HP:0012639	Abnormal nervous system morphology	92935	MARS2	OMIM:616430
HP:0012639	Abnormal nervous system morphology	7471	WNT1	OMIM:615220
HP:0012639	Abnormal nervous system morphology	10243	GPHN	OMIM:615501
HP:0012639	Abnormal nervous system morphology	9181	ARHGEF2	OMIM:617523
HP:0012639	Abnormal nervous system morphology	51013	EXOSC1	OMIM:619304
HP:0012639	Abnormal nervous system morphology	7319	UBE2A	ORPHA:163956
HP:0012639	Abnormal nervous system morphology	55361	PI4K2A	OMIM:620732
HP:0012639	Abnormal nervous system morphology	27445	PCLO	OMIM:608027
HP:0012639	Abnormal nervous system morphology	59336	PRDM13	OMIM:619909
HP:0012639	Abnormal nervous system morphology	137682	NDUFAF6	OMIM:618239
HP:0012639	Abnormal nervous system morphology	64849	SLC13A3	OMIM:618384
HP:0012639	Abnormal nervous system morphology	129607	CMPK2	OMIM:621018
HP:0012639	Abnormal nervous system morphology	112476	PRRT2	ORPHA:569
HP:0012639	Abnormal nervous system morphology	5551	PRF1	ORPHA:540
HP:0012639	Abnormal nervous system morphology	5551	PRF1	OMIM:603553
HP:0012639	Abnormal nervous system morphology	8676	STX11	ORPHA:540
HP:0012639	Abnormal nervous system morphology	201294	UNC13D	ORPHA:540
HP:0012639	Abnormal nervous system morphology	6813	STXBP2	ORPHA:540
HP:0012639	Abnormal nervous system morphology	355	FAS	ORPHA:3437
HP:0012639	Abnormal nervous system morphology	26191	PTPN22	ORPHA:3437
HP:0012639	Abnormal nervous system morphology	100996717	NOTCH2NLC	OMIM:603472
HP:0012639	Abnormal nervous system morphology	3953	LEPR	OMIM:614963
HP:0012639	Abnormal nervous system morphology	3071	NCKAP1L	OMIM:618982
HP:0012639	Abnormal nervous system morphology	677814	SNORA31	OMIM:619396
HP:0012639	Abnormal nervous system morphology	10525	HYOU1	OMIM:233600
HP:0012639	Abnormal nervous system morphology	6660	SOX5	ORPHA:313892
HP:0012639	Abnormal nervous system morphology	51322	WAC	ORPHA:284169
HP:0012639	Abnormal nervous system morphology	23019	CNOT1	ORPHA:556955
HP:0012639	Abnormal nervous system morphology	11253	MAN1B1	ORPHA:397941
HP:0012639	Abnormal nervous system morphology	23394	ADNP	ORPHA:404448
HP:0012639	Abnormal nervous system morphology	79868	ALG13	ORPHA:324422
HP:0012639	Abnormal nervous system morphology	6651	SON	ORPHA:500150
HP:0012639	Abnormal nervous system morphology	166378	AFG2A	ORPHA:457351
HP:0012639	Abnormal nervous system morphology	51360	MBTPS2	ORPHA:85284
HP:0012639	Abnormal nervous system morphology	25974	MMACHC	ORPHA:79282
HP:0012639	Abnormal nervous system morphology	9361	LONP1	ORPHA:79243
HP:0012639	Abnormal nervous system morphology	5160	PDHA1	ORPHA:79243
HP:0012639	Abnormal nervous system morphology	79644	SRD5A3	ORPHA:324737
HP:0012639	Abnormal nervous system morphology	79228	THOC6	ORPHA:363444
HP:0012639	Abnormal nervous system morphology	29925	GMPPB	ORPHA:370959
HP:0012639	Abnormal nervous system morphology	57216	VANGL2	ORPHA:563612
HP:0012639	Abnormal nervous system morphology	23111	SPART	ORPHA:101000
HP:0012639	Abnormal nervous system morphology	26053	AUTS2	ORPHA:352490
HP:0012639	Abnormal nervous system morphology	113179	ADAT3	ORPHA:363528
HP:0012639	Abnormal nervous system morphology	83696	TRAPPC9	ORPHA:352530
HP:0012639	Abnormal nervous system morphology	27245	AHDC1	ORPHA:412069
HP:0012639	Abnormal nervous system morphology	4281	MID1	ORPHA:2745
HP:0012639	Abnormal nervous system morphology	55690	PACS1	ORPHA:329224
HP:0012639	Abnormal nervous system morphology	55294	FBXW7	OMIM:620012
HP:0012639	Abnormal nervous system morphology	54496	PRMT7	ORPHA:464288
HP:0012639	Abnormal nervous system morphology	7187	TRAF3	ORPHA:1930
HP:0012639	Abnormal nervous system morphology	81622	UNC93B1	ORPHA:1930
HP:0012639	Abnormal nervous system morphology	148022	TICAM1	ORPHA:1930
HP:0012639	Abnormal nervous system morphology	7098	TLR3	ORPHA:1930
HP:0012639	Abnormal nervous system morphology	3756	KCNH1	ORPHA:420561
HP:0012639	Abnormal nervous system morphology	51399	TRAPPC4	OMIM:618741
HP:0012639	Abnormal nervous system morphology	4723	NDUFV1	OMIM:618225
HP:0012639	Abnormal nervous system morphology	9853	RUSC2	OMIM:617773
HP:0012639	Abnormal nervous system morphology	54517	PUS7	OMIM:618342
HP:0012639	Abnormal nervous system morphology	5994	RFXAP	OMIM:620817
HP:0012639	Abnormal nervous system morphology	54973	INTS11	OMIM:620428
HP:0012639	Abnormal nervous system morphology	4719	NDUFS1	OMIM:618226
HP:0012639	Abnormal nervous system morphology	4720	NDUFS2	OMIM:618228
HP:0012639	Abnormal nervous system morphology	4729	NDUFV2	OMIM:618229
HP:0012639	Abnormal nervous system morphology	10274	STAG1	ORPHA:502434
HP:0012639	Abnormal nervous system morphology	1729	DIAPH1	ORPHA:477814
HP:0012639	Abnormal nervous system morphology	6341	SCO1	OMIM:619048
HP:0012639	Abnormal nervous system morphology	126328	NDUFA11	OMIM:618236
HP:0012639	Abnormal nervous system morphology	283489	CHAMP1	OMIM:616579
HP:0012639	Abnormal nervous system morphology	8312	AXIN1	OMIM:620558
HP:0012639	Abnormal nervous system morphology	56246	MRAP	OMIM:607398
HP:0012639	Abnormal nervous system morphology	9382	COG1	OMIM:611209
HP:0012639	Abnormal nervous system morphology	1353	COX11	OMIM:620275
HP:0012639	Abnormal nervous system morphology	2895	GRID2	ORPHA:363432
HP:0012639	Abnormal nervous system morphology	1351	COX8A	OMIM:619059
HP:0012639	Abnormal nervous system morphology	10134	BCAP31	ORPHA:369939
HP:0012639	Abnormal nervous system morphology	3899	AFF3	OMIM:619297
HP:0012639	Abnormal nervous system morphology	11080	DNAJB4	OMIM:620326
HP:0012639	Abnormal nervous system morphology	27315	PGAP2	OMIM:614207
HP:0012639	Abnormal nervous system morphology	400569	MED11	OMIM:620327
HP:0012639	Abnormal nervous system morphology	29967	LRP12	OMIM:164310
HP:0012639	Abnormal nervous system morphology	11212	PLPBP	ORPHA:3006
HP:0012639	Abnormal nervous system morphology	11212	PLPBP	OMIM:617290
HP:0012639	Abnormal nervous system morphology	84504	NKX6-2	OMIM:617560
HP:0012639	Abnormal nervous system morphology	283987	HID1	OMIM:619983
HP:0012639	Abnormal nervous system morphology	56479	KCNQ5	OMIM:617601
HP:0012639	Abnormal nervous system morphology	23065	EMC1	OMIM:616875
HP:0012639	Abnormal nervous system morphology	2752	GLUL	OMIM:610015
HP:0012639	Abnormal nervous system morphology	443	ASPA	OMIM:271900
HP:0012639	Abnormal nervous system morphology	51241	COX16	OMIM:619355
HP:0012639	Abnormal nervous system morphology	149371	EXOC8	OMIM:619076
HP:0012639	Abnormal nervous system morphology	10846	PDE10A	ORPHA:494526
HP:0012639	Abnormal nervous system morphology	3704	ITPA	OMIM:616647
HP:0012639	Abnormal nervous system morphology	378884	NHLRC1	ORPHA:501
HP:0012639	Abnormal nervous system morphology	7957	EPM2A	ORPHA:501
HP:0012639	Abnormal nervous system morphology	79759	ZNF668	OMIM:620194
HP:0012639	Abnormal nervous system morphology	9829	DNAJC6	ORPHA:391411
HP:0012639	Abnormal nervous system morphology	5420	PODXL	ORPHA:391411
HP:0012639	Abnormal nervous system morphology	51611	DPH5	OMIM:620070
HP:0012639	Abnormal nervous system morphology	4247	MGAT2	ORPHA:79329
HP:0012639	Abnormal nervous system morphology	374354	NHLRC2	OMIM:618278
HP:0012639	Abnormal nervous system morphology	57570	TRMT5	OMIM:616539
HP:0012639	Abnormal nervous system morphology	5591	PRKDC	OMIM:615966
HP:0012639	Abnormal nervous system morphology	539	ATP5PO	OMIM:620359
HP:0012639	Abnormal nervous system morphology	8911	CACNA1I	OMIM:620114
HP:0012639	Abnormal nervous system morphology	84628	NTNG2	OMIM:618718
HP:0012639	Abnormal nervous system morphology	4677	NARS1	OMIM:619092
HP:0012639	Abnormal nervous system morphology	50628	GEMIN4	OMIM:617913
HP:0012639	Abnormal nervous system morphology	875	CBS	OMIM:236200
HP:0012639	Abnormal nervous system morphology	6509	SLC1A4	ORPHA:447997
HP:0012639	Abnormal nervous system morphology	2801	GOLGA2	OMIM:620240
HP:0012639	Abnormal nervous system morphology	5654	HTRA1	OMIM:600142
HP:0012639	Abnormal nervous system morphology	55181	SMG8	OMIM:619268
HP:0012639	Abnormal nervous system morphology	22930	RAB3GAP1	OMIM:619420
HP:0012639	Abnormal nervous system morphology	8625	RFXANK	OMIM:620815
HP:0012639	Abnormal nervous system morphology	50640	PNPLA8	OMIM:251950
HP:0012639	Abnormal nervous system morphology	25782	RAB3GAP2	ORPHA:401830
HP:0012639	Abnormal nervous system morphology	51663	ZFR	ORPHA:401840
HP:0012639	Abnormal nervous system morphology	5354	PLP1	ORPHA:280210
HP:0012639	Abnormal nervous system morphology	10342	TFG	ORPHA:431329
HP:0012639	Abnormal nervous system morphology	80055	PGAP1	ORPHA:401820
HP:0012639	Abnormal nervous system morphology	374879	ZNF699	OMIM:619488
HP:0012639	Abnormal nervous system morphology	6658	SOX3	ORPHA:67045
HP:0012639	Abnormal nervous system morphology	4141	MARS1	ORPHA:401835
HP:0012639	Abnormal nervous system morphology	28962	OSTM1	ORPHA:85179
HP:0012639	Abnormal nervous system morphology	2903	GRIN2A	ORPHA:289266
HP:0012639	Abnormal nervous system morphology	55532	SLC30A10	ORPHA:309854
HP:0012639	Abnormal nervous system morphology	26005	C2CD3	ORPHA:434179
HP:0012639	Abnormal nervous system morphology	1161	ERCC8	ORPHA:90324
HP:0012639	Abnormal nervous system morphology	2074	ERCC6	ORPHA:90324
HP:0012639	Abnormal nervous system morphology	22880	MORC2	ORPHA:466768
HP:0012639	Abnormal nervous system morphology	3912	LAMB1	ORPHA:352682
HP:0012639	Abnormal nervous system morphology	3737	KCNA2	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	1759	DNM1	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	8120	AP3B2	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	523	ATP6V1A	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	10991	SLC38A3	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	51343	FZR1	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	3747	KCNC2	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	1917	EEF1A2	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	23219	FBXO28	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	2561	GABRB2	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	8831	SYNGAP1	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	2558	GABRA5	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	2906	GRIN2D	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	116150	NUS1	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	1213	CLTC	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	51741	WWOX	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	23334	SZT2	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	348980	HCN1	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	25977	NECAP1	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	23241	PACS2	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	16	AARS1	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	6334	SCN8A	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	9568	GABBR2	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	2555	GABRA2	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	55152	DALRD3	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	26999	CYFIP2	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	4915	NTRK2	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	25973	PARS2	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	23097	CDK19	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	2257	FGF12	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	5530	PPP3CA	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	478	ATP1A3	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	22906	TRAK1	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	2566	GABRG2	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	7532	YWHAG	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	79876	UBA5	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	6328	SCN3A	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	781	CACNA2D1	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	10659	CELF2	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	774	CACNA1B	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	51412	ACTL6B	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	2290	FOXG1	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	6506	SLC1A2	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	8867	SYNJ1	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	477	ATP1A2	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	3745	KCNB1	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	284111	SLC13A5	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	22866	CNKSR2	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	773	CACNA1A	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	6323	SCN1A	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	79947	DHDDS	ORPHA:442835
HP:0012639	Abnormal nervous system morphology	55768	NGLY1	ORPHA:404454
HP:0012639	Abnormal nervous system morphology	90952	ESAM	OMIM:620371
HP:0012639	Abnormal nervous system morphology	7528	YY1	ORPHA:506358
HP:0012639	Abnormal nervous system morphology	91949	COG7	OMIM:608779
HP:0012639	Abnormal nervous system morphology	6535	SLC6A8	OMIM:300352
HP:0012639	Abnormal nervous system morphology	10617	STAMBP	OMIM:614261
HP:0012639	Abnormal nervous system morphology	10466	COG5	ORPHA:263487
HP:0012639	Abnormal nervous system morphology	55823	VPS11	OMIM:616683
HP:0012639	Abnormal nervous system morphology	7355	SLC35A2	ORPHA:356961
HP:0012639	Abnormal nervous system morphology	85476	GFM1	OMIM:609060
HP:0012639	Abnormal nervous system morphology	6326	SCN2A	ORPHA:293181
HP:0012639	Abnormal nervous system morphology	6326	SCN2A	ORPHA:1934
HP:0012639	Abnormal nervous system morphology	57468	SLC12A5	ORPHA:293181
HP:0012639	Abnormal nervous system morphology	23236	PLCB1	ORPHA:293181
HP:0012639	Abnormal nervous system morphology	3785	KCNQ2	ORPHA:293181
HP:0012639	Abnormal nervous system morphology	57582	KCNT1	ORPHA:293181
HP:0012639	Abnormal nervous system morphology	5277	PIGA	ORPHA:293181
HP:0012639	Abnormal nervous system morphology	5277	PIGA	OMIM:300868
HP:0012639	Abnormal nervous system morphology	79751	SLC25A22	ORPHA:293181
HP:0012639	Abnormal nervous system morphology	79751	SLC25A22	OMIM:609304
HP:0012639	Abnormal nervous system morphology	79751	SLC25A22	ORPHA:1934
HP:0012639	Abnormal nervous system morphology	57465	TBC1D24	ORPHA:293181
HP:0012639	Abnormal nervous system morphology	57465	TBC1D24	OMIM:615338
HP:0012639	Abnormal nervous system morphology	23126	POGZ	ORPHA:468678
HP:0012639	Abnormal nervous system morphology	56945	MRPS22	OMIM:611719
HP:0012639	Abnormal nervous system morphology	5631	PRPS1	ORPHA:423479
HP:0012639	Abnormal nervous system morphology	1349	COX7B	OMIM:300887
HP:0012639	Abnormal nervous system morphology	6873	TAF2	ORPHA:397951
HP:0012639	Abnormal nervous system morphology	2782	GNB1	ORPHA:488613
HP:0012639	Abnormal nervous system morphology	2782	GNB1	OMIM:616973
HP:0012639	Abnormal nervous system morphology	4552	MTRR	ORPHA:2169
HP:0012639	Abnormal nervous system morphology	112939	NACC1	ORPHA:500545
HP:0012639	Abnormal nervous system morphology	55904	KMT2E	OMIM:618512
HP:0012639	Abnormal nervous system morphology	2033	EP300	ORPHA:353284
HP:0012639	Abnormal nervous system morphology	10978	CLP1	OMIM:615803
HP:0012639	Abnormal nervous system morphology	55650	PIGV	OMIM:239300
HP:0012639	Abnormal nervous system morphology	3417	IDH1	ORPHA:99646
HP:0012639	Abnormal nervous system morphology	87178	PNPT1	ORPHA:319514
HP:0012639	Abnormal nervous system morphology	7337	UBE3A	ORPHA:98794
HP:0012639	Abnormal nervous system morphology	4948	OCA2	ORPHA:98794
HP:0012639	Abnormal nervous system morphology	3192	HNRNPU	OMIM:617391
HP:0012639	Abnormal nervous system morphology	65082	VPS33A	ORPHA:505248
HP:0012639	Abnormal nervous system morphology	55906	ZC4H2	OMIM:314580
HP:0012639	Abnormal nervous system morphology	4125	MAN2B1	OMIM:248500
HP:0012639	Abnormal nervous system morphology	55572	FOXRED1	OMIM:618241
HP:0012639	Abnormal nervous system morphology	1183	CLCN4	ORPHA:485350
HP:0012639	Abnormal nervous system morphology	29968	PSAT1	ORPHA:284417
HP:0012639	Abnormal nervous system morphology	191	AHCY	ORPHA:88618
HP:0012639	Abnormal nervous system morphology	171023	ASXL1	ORPHA:97297
HP:0012639	Abnormal nervous system morphology	23028	KDM1A	ORPHA:477993
HP:0012639	Abnormal nervous system morphology	92949	ADAMTSL1	ORPHA:521445
HP:0012639	Abnormal nervous system morphology	1641	DCX	ORPHA:2148
HP:0012639	Abnormal nervous system morphology	10352	WARS2	ORPHA:572798
HP:0012639	Abnormal nervous system morphology	26227	PHGDH	ORPHA:79351
HP:0012639	Abnormal nervous system morphology	7025	NR2F1	ORPHA:401777
HP:0012639	Abnormal nervous system morphology	6905	TBCE	OMIM:241410
HP:0012639	Abnormal nervous system morphology	6711	SPTBN1	OMIM:619475
HP:0012639	Abnormal nervous system morphology	81689	ISCA1	OMIM:617613
HP:0012639	Abnormal nervous system morphology	51091	SEPSECS	OMIM:613811
HP:0012639	Abnormal nervous system morphology	1528	CYB5A	ORPHA:621
HP:0012639	Abnormal nervous system morphology	1727	CYB5R3	ORPHA:621
HP:0012639	Abnormal nervous system morphology	79796	ALG9	ORPHA:79328
HP:0012639	Abnormal nervous system morphology	57459	GATAD2B	ORPHA:363686
HP:0012639	Abnormal nervous system morphology	23556	PIGN	ORPHA:280633
HP:0012639	Abnormal nervous system morphology	6857	SYT1	ORPHA:522077
HP:0012639	Abnormal nervous system morphology	5058	PAK1	OMIM:618158
HP:0012639	Abnormal nervous system morphology	440138	ALG11	ORPHA:280071
HP:0012639	Abnormal nervous system morphology	2232	FDXR	ORPHA:543470
HP:0012639	Abnormal nervous system morphology	25828	TXN2	ORPHA:478029
HP:0012639	Abnormal nervous system morphology	9373	PLAA	ORPHA:521426
HP:0012639	Abnormal nervous system morphology	84919	PPP1R15B	OMIM:616817
HP:0012639	Abnormal nervous system morphology	84919	PPP1R15B	ORPHA:391408
HP:0012639	Abnormal nervous system morphology	93587	TRMT10A	ORPHA:391408
HP:0012639	Abnormal nervous system morphology	5373	PMM2	ORPHA:79318
HP:0012639	Abnormal nervous system morphology	23162	MAPK8IP3	OMIM:618443
HP:0012639	Abnormal nervous system morphology	440	ASNS	OMIM:615574
HP:0012639	Abnormal nervous system morphology	1387	CREBBP	ORPHA:353277
HP:0012639	Abnormal nervous system morphology	55005	RMND1	OMIM:614922
HP:0012639	Abnormal nervous system morphology	8813	DPM1	ORPHA:79322
HP:0012639	Abnormal nervous system morphology	1719	DHFR	OMIM:613839
HP:0012639	Abnormal nervous system morphology	6567	SLC16A2	ORPHA:59
HP:0012639	Abnormal nervous system morphology	6812	STXBP1	ORPHA:599373
HP:0012639	Abnormal nervous system morphology	6576	SLC25A1	OMIM:615182
HP:0012639	Abnormal nervous system morphology	3658	IREB2	OMIM:618451
HP:0012639	Abnormal nervous system morphology	58497	PRUNE1	ORPHA:544469
HP:0012639	Abnormal nervous system morphology	51053	GMNN	OMIM:616835
HP:0012639	Abnormal nervous system morphology	5518	PPP2R1A	ORPHA:457284
HP:0012639	Abnormal nervous system morphology	11342	RNF13	ORPHA:544503
HP:0012639	Abnormal nervous system morphology	78987	CRELD1	OMIM:620771
HP:0012639	Abnormal nervous system morphology	6792	CDKL5	ORPHA:1934
HP:0012639	Abnormal nervous system morphology	3736	KCNA1	ORPHA:1934
HP:0012639	Abnormal nervous system morphology	9091	PIGQ	ORPHA:1934
HP:0012639	Abnormal nervous system morphology	140679	SLC32A1	ORPHA:1934
HP:0012639	Abnormal nervous system morphology	2775	GNAO1	ORPHA:1934
HP:0012639	Abnormal nervous system morphology	81603	TRIM8	ORPHA:1934
HP:0012639	Abnormal nervous system morphology	2902	GRIN1	ORPHA:1934
HP:0012639	Abnormal nervous system morphology	150094	SIK1	ORPHA:1934
HP:0012639	Abnormal nervous system morphology	8573	CASK	ORPHA:1934
HP:0012639	Abnormal nervous system morphology	2917	GRM7	ORPHA:1934
HP:0012639	Abnormal nervous system morphology	170302	ARX	ORPHA:1934
HP:0012639	Abnormal nervous system morphology	11284	PNKP	ORPHA:1934
HP:0012639	Abnormal nervous system morphology	51227	PIGP	ORPHA:1934
HP:0012639	Abnormal nervous system morphology	6324	SCN1B	ORPHA:1934
HP:0012639	Abnormal nervous system morphology	4761	NEUROD2	ORPHA:1934
HP:0012639	Abnormal nervous system morphology	5813	PURA	ORPHA:314655
HP:0012639	Abnormal nervous system morphology	4488	MSX2	ORPHA:60015
HP:0012639	Abnormal nervous system morphology	51284	TLR7	OMIM:301080
HP:0012639	Abnormal nervous system morphology	4791	NFKB2	ORPHA:293978
HP:0012639	Abnormal nervous system morphology	9394	HS6ST1	OMIM:614880
HP:0012639	Abnormal nervous system morphology	23031	MAST3	OMIM:620115
HP:0012639	Abnormal nervous system morphology	2693	GHSR	OMIM:615925
HP:0012639	Abnormal nervous system morphology	23299	BICD2	OMIM:618291
HP:0012639	Abnormal nervous system morphology	2898	GRIK2	OMIM:619580
HP:0012639	Abnormal nervous system morphology	129285	PPP1R21	OMIM:619383
HP:0012639	Abnormal nervous system morphology	84823	LMNB2	OMIM:619180
HP:0012639	Abnormal nervous system morphology	8567	MADD	OMIM:619004
HP:0012639	Abnormal nervous system morphology	8567	MADD	OMIM:619005
HP:0012639	Abnormal nervous system morphology	23404	EXOSC2	OMIM:617763
HP:0012639	Abnormal nervous system morphology	200424	TET3	OMIM:618798
HP:0012639	Abnormal nervous system morphology	8021	NUP214	OMIM:618426
HP:0012639	Abnormal nervous system morphology	51112	TRAPPC12	OMIM:617669
HP:0012639	Abnormal nervous system morphology	4953	ODC1	OMIM:619075
HP:0012639	Abnormal nervous system morphology	4953	ODC1	ORPHA:544488
HP:0012639	Abnormal nervous system morphology	6477	SIAH1	OMIM:619314
HP:0012639	Abnormal nervous system morphology	54453	RIN2	OMIM:613075
HP:0012639	Abnormal nervous system morphology	375	ARF1	ORPHA:98892
HP:0012639	Abnormal nervous system morphology	4131	MAP1B	ORPHA:98892
HP:0012639	Abnormal nervous system morphology	2316	FLNA	ORPHA:98892
HP:0012639	Abnormal nervous system morphology	23327	NEDD4L	ORPHA:98892
HP:0012639	Abnormal nervous system morphology	160418	TMTC3	ORPHA:98892
HP:0012639	Abnormal nervous system morphology	10564	ARFGEF2	ORPHA:98892
HP:0012639	Abnormal nervous system morphology	55780	ERMARD	ORPHA:98892
HP:0012639	Abnormal nervous system morphology	4208	MEF2C	ORPHA:228384
HP:0012639	Abnormal nervous system morphology	7157	TP53	ORPHA:2807
HP:0012639	Abnormal nervous system morphology	3845	KRAS	ORPHA:3339
HP:0012639	Abnormal nervous system morphology	5290	PIK3CA	ORPHA:60040
HP:0012639	Abnormal nervous system morphology	6804	STX1A	ORPHA:904
HP:0012639	Abnormal nervous system morphology	7461	CLIP2	ORPHA:904
HP:0012639	Abnormal nervous system morphology	84277	DNAJC30	ORPHA:904
HP:0012639	Abnormal nervous system morphology	8468	FKBP6	ORPHA:904
HP:0012639	Abnormal nervous system morphology	5982	RFC2	ORPHA:904
HP:0012639	Abnormal nervous system morphology	2969	GTF2I	ORPHA:904
HP:0012639	Abnormal nervous system morphology	3984	LIMK1	ORPHA:904
HP:0012639	Abnormal nervous system morphology	9569	GTF2IRD1	ORPHA:904
HP:0012639	Abnormal nervous system morphology	155382	VPS37D	ORPHA:904
HP:0012639	Abnormal nervous system morphology	155368	METTL27	ORPHA:904
HP:0012639	Abnormal nervous system morphology	114049	BUD23	ORPHA:904
HP:0012639	Abnormal nervous system morphology	7458	EIF4H	ORPHA:904
HP:0012639	Abnormal nervous system morphology	84163	GTF2IRD2	ORPHA:904
HP:0012639	Abnormal nervous system morphology	26608	TBL2	ORPHA:904
HP:0012639	Abnormal nervous system morphology	653361	NCF1	ORPHA:904
HP:0012639	Abnormal nervous system morphology	135886	TMEM270	ORPHA:904
HP:0012639	Abnormal nervous system morphology	9031	BAZ1B	ORPHA:904
HP:0012639	Abnormal nervous system morphology	2006	ELN	ORPHA:904
HP:0012639	Abnormal nervous system morphology	57492	ARID1B	ORPHA:251056
HP:0012639	Abnormal nervous system morphology	672	BRCA1	ORPHA:84
HP:0012639	Abnormal nervous system morphology	10459	MAD2L2	ORPHA:84
HP:0012639	Abnormal nervous system morphology	7516	XRCC2	ORPHA:84
HP:0012639	Abnormal nervous system morphology	29089	UBE2T	ORPHA:84
HP:0012639	Abnormal nervous system morphology	675	BRCA2	ORPHA:84
HP:0012639	Abnormal nervous system morphology	55120	FANCL	ORPHA:84
HP:0012639	Abnormal nervous system morphology	2177	FANCD2	ORPHA:84
HP:0012639	Abnormal nervous system morphology	2175	FANCA	ORPHA:84
HP:0012639	Abnormal nervous system morphology	2187	FANCB	ORPHA:84
HP:0012639	Abnormal nervous system morphology	2176	FANCC	ORPHA:84
HP:0012639	Abnormal nervous system morphology	2178	FANCE	ORPHA:84
HP:0012639	Abnormal nervous system morphology	2188	FANCF	ORPHA:84
HP:0012639	Abnormal nervous system morphology	2189	FANCG	ORPHA:84
HP:0012639	Abnormal nervous system morphology	5888	RAD51	ORPHA:84
HP:0012639	Abnormal nervous system morphology	5889	RAD51C	ORPHA:84
HP:0012639	Abnormal nervous system morphology	55159	RFWD3	ORPHA:84
HP:0012639	Abnormal nervous system morphology	83990	BRIP1	ORPHA:84
HP:0012639	Abnormal nervous system morphology	57697	FANCM	ORPHA:84
HP:0012639	Abnormal nervous system morphology	79728	PALB2	ORPHA:84
HP:0012639	Abnormal nervous system morphology	84464	SLX4	ORPHA:84
HP:0012639	Abnormal nervous system morphology	2072	ERCC4	ORPHA:84
HP:0012639	Abnormal nervous system morphology	55215	FANCI	ORPHA:84
HP:0012639	Abnormal nervous system morphology	51	ACOX1	ORPHA:2971
HP:0012639	Abnormal nervous system morphology	2019	EN1	OMIM:619218
HP:0012639	Abnormal nervous system morphology	4000	LMNA	OMIM:151660
HP:0012639	Abnormal nervous system morphology	1356	CP	ORPHA:48818
HP:0012639	Abnormal nervous system morphology	1384	CRAT	OMIM:617917
HP:0012639	Abnormal nervous system morphology	5718	PSMD12	OMIM:617516
HP:0012639	Abnormal nervous system morphology	5718	PSMD12	ORPHA:529962
HP:0012639	Abnormal nervous system morphology	11023	VAX1	OMIM:614402
HP:0012639	Abnormal nervous system morphology	284098	PIGW	OMIM:616025
HP:0012639	Abnormal nervous system morphology	26128	KIFBP	OMIM:609460
HP:0012639	Abnormal nervous system morphology	9526	MPDU1	ORPHA:79323
HP:0012639	Abnormal nervous system morphology	1523	CUX1	OMIM:618330
HP:0012639	Abnormal nervous system morphology	6638	SNRPN	ORPHA:177907
HP:0012639	Abnormal nervous system morphology	161725	OTUD7A	OMIM:620790
HP:0012639	Abnormal nervous system morphology	23474	ETHE1	ORPHA:51188
HP:0012639	Abnormal nervous system morphology	2475	MTOR	ORPHA:99802
HP:0012639	Abnormal nervous system morphology	10000	AKT3	ORPHA:99802
HP:0012639	Abnormal nervous system morphology	26047	CNTNAP2	ORPHA:163681
HP:0012639	Abnormal nervous system morphology	63925	ZNF335	ORPHA:329228
HP:0012639	Abnormal nervous system morphology	5575	PRKAR1B	ORPHA:412066
HP:0012639	Abnormal nervous system morphology	10398	MYL9	OMIM:619365
HP:0012639	Abnormal nervous system morphology	344167	FOXI3	OMIM:620444
HP:0012639	Abnormal nervous system morphology	5805	PTS	OMIM:261640
HP:0012639	Abnormal nervous system morphology	1644	DDC	ORPHA:35708
HP:0012639	Abnormal nervous system morphology	23395	LARS2	OMIM:615300
HP:0012639	Abnormal nervous system morphology	2642	GCGR	ORPHA:438274
HP:0012639	Abnormal nervous system morphology	11235	PDCD10	ORPHA:221061
HP:0012639	Abnormal nervous system morphology	83605	CCM2	ORPHA:221061
HP:0012639	Abnormal nervous system morphology	889	KRIT1	ORPHA:221061
HP:0012639	Abnormal nervous system morphology	5426	POLE	ORPHA:447877
HP:0012639	Abnormal nervous system morphology	5424	POLD1	ORPHA:447877
HP:0012639	Abnormal nervous system morphology	7373	COL14A1	ORPHA:79501
HP:0012639	Abnormal nervous system morphology	79719	AAGAB	ORPHA:79501
HP:0012639	Abnormal nervous system morphology	1906	EDN1	ORPHA:137888
HP:0012639	Abnormal nervous system morphology	2773	GNAI3	ORPHA:137888
HP:0012639	Abnormal nervous system morphology	55770	EXOC2	OMIM:619306
HP:0012639	Abnormal nervous system morphology	55788	LMBRD1	ORPHA:79284
HP:0012639	Abnormal nervous system morphology	79853	TM4SF20	OMIM:615432
HP:0012639	Abnormal nervous system morphology	7920	ABHD16A	OMIM:619735
HP:0012639	Abnormal nervous system morphology	10060	ABCC9	OMIM:619719
HP:0012639	Abnormal nervous system morphology	3514	IGKC	ORPHA:183675
HP:0012639	Abnormal nervous system morphology	3501	IGHG2	ORPHA:183675
HP:0012639	Abnormal nervous system morphology	26523	AGO1	OMIM:620292
HP:0012639	Abnormal nervous system morphology	3574	IL7	OMIM:618309
HP:0012639	Abnormal nervous system morphology	1000	CDH2	OMIM:618929
HP:0012639	Abnormal nervous system morphology	9692	PRORP	OMIM:619737
HP:0012639	Abnormal nervous system morphology	22859	ADGRL1	OMIM:620065
HP:0012639	Abnormal nervous system morphology	1284	COL4A2	OMIM:614483
HP:0012639	Abnormal nervous system morphology	2065	ERBB3	OMIM:243180
HP:0012639	Abnormal nervous system morphology	60675	PROK2	OMIM:610628
HP:0012639	Abnormal nervous system morphology	23446	SLC44A1	OMIM:618868
HP:0012639	Abnormal nervous system morphology	84334	COA8	OMIM:619061
HP:0012639	Abnormal nervous system morphology	1327	COX4I1	OMIM:619060
HP:0012639	Abnormal nervous system morphology	939	CD27	OMIM:615122
HP:0012639	Abnormal nervous system morphology	490	ATP2B1	OMIM:619910
HP:0012639	Abnormal nervous system morphology	6900	CNTN2	OMIM:615400
HP:0012639	Abnormal nervous system morphology	51117	COQ4	OMIM:620666
HP:0012639	Abnormal nervous system morphology	1855	DVL1	OMIM:616331
HP:0012639	Abnormal nervous system morphology	26175	LYSET	OMIM:619345
HP:0012639	Abnormal nervous system morphology	51163	DBR1	OMIM:619441
HP:0012639	Abnormal nervous system morphology	1725	DHPS	OMIM:618480
HP:0012639	Abnormal nervous system morphology	1436	CSF1R	OMIM:221820
HP:0012639	Abnormal nervous system morphology	91801	ALKBH8	OMIM:618504
HP:0012639	Abnormal nervous system morphology	1317	SLC31A1	OMIM:620306
HP:0012639	Abnormal nervous system morphology	116519	APOA5	OMIM:145750
HP:0012639	Abnormal nervous system morphology	4792	NFKBIA	ORPHA:98813
HP:0012639	Abnormal nervous system morphology	51119	SBDS	ORPHA:811
HP:0012639	Abnormal nervous system morphology	3908	LAMA2	OMIM:618138
HP:0012639	Abnormal nervous system morphology	89874	SLC25A21	OMIM:618811
HP:0012639	Abnormal nervous system morphology	8622	PDE8B	OMIM:609161
HP:0012639	Abnormal nervous system morphology	5455	POU3F3	OMIM:618604
HP:0012639	Abnormal nervous system morphology	10371	SEMA3A	OMIM:614897
HP:0012639	Abnormal nervous system morphology	170825	GSX2	OMIM:618646
HP:0012639	Abnormal nervous system morphology	23347	SMCHD1	ORPHA:2250
HP:0012639	Abnormal nervous system morphology	93986	FOXP2	ORPHA:251061
HP:0012639	Abnormal nervous system morphology	54704	PDP1	ORPHA:79246
HP:0012639	Abnormal nervous system morphology	1053	CEBPE	OMIM:245480
HP:0012639	Abnormal nervous system morphology	999	CDH1	OMIM:119580
HP:0012639	Abnormal nervous system morphology	26040	SETBP1	ORPHA:798
HP:0012639	Abnormal nervous system morphology	2643	GCH1	ORPHA:98808
HP:0012639	Abnormal nervous system morphology	3615	IMPDH2	ORPHA:98808
HP:0012639	Abnormal nervous system morphology	28982	FLVCR1	ORPHA:88628
HP:0012639	Abnormal nervous system morphology	1908	EDN3	ORPHA:661
HP:0012639	Abnormal nervous system morphology	2668	GDNF	ORPHA:661
HP:0012639	Abnormal nervous system morphology	627	BDNF	ORPHA:661
HP:0012639	Abnormal nervous system morphology	10660	LBX1	ORPHA:661
HP:0012639	Abnormal nervous system morphology	283446	MYO1H	ORPHA:661
HP:0012639	Abnormal nervous system morphology	10483	SEC23B	ORPHA:201
HP:0012639	Abnormal nervous system morphology	5728	PTEN	ORPHA:201
HP:0012639	Abnormal nervous system morphology	6390	SDHB	ORPHA:201
HP:0012639	Abnormal nervous system morphology	6392	SDHD	ORPHA:201
HP:0012639	Abnormal nervous system morphology	6391	SDHC	ORPHA:201
HP:0012639	Abnormal nervous system morphology	207	AKT1	ORPHA:201
HP:0012639	Abnormal nervous system morphology	207	AKT1	ORPHA:744
HP:0012639	Abnormal nervous system morphology	205717	USF3	ORPHA:201
HP:0012639	Abnormal nervous system morphology	100144748	KLLN	ORPHA:201
HP:0012639	Abnormal nervous system morphology	2048	EPHB2	OMIM:603688
HP:0012639	Abnormal nervous system morphology	2130	EWSR1	ORPHA:83469
HP:0012639	Abnormal nervous system morphology	7490	WT1	ORPHA:83469
HP:0012639	Abnormal nervous system morphology	324	APC	ORPHA:99818
HP:0012639	Abnormal nervous system morphology	161742	SPRED1	ORPHA:137605
HP:0012639	Abnormal nervous system morphology	1029	CDKN2A	ORPHA:524
HP:0012639	Abnormal nervous system morphology	4193	MDM2	ORPHA:524
HP:0012639	Abnormal nervous system morphology	11200	CHEK2	ORPHA:524
HP:0012639	Abnormal nervous system morphology	51004	COQ6	ORPHA:93921
HP:0012639	Abnormal nervous system morphology	8216	LZTR1	ORPHA:93921
HP:0012639	Abnormal nervous system morphology	8216	LZTR1	OMIM:615670
HP:0012639	Abnormal nervous system morphology	5573	PRKAR1A	OMIM:160980
HP:0012639	Abnormal nervous system morphology	5573	PRKAR1A	ORPHA:1359
HP:0012639	Abnormal nervous system morphology	8930	MBD4	OMIM:619975
HP:0012639	Abnormal nervous system morphology	54894	RNF43	ORPHA:157798
HP:0012639	Abnormal nervous system morphology	50940	PDE11A	ORPHA:1359
HP:0012639	Abnormal nervous system morphology	1301	COL11A1	OMIM:154780
HP:0012639	Abnormal nervous system morphology	819	CAMLG	OMIM:620201
HP:0012639	Abnormal nervous system morphology	5621	PRNP	ORPHA:282166
HP:0012639	Abnormal nervous system morphology	567	B2M	OMIM:620659
HP:0012639	Abnormal nervous system morphology	567	B2M	ORPHA:314652
HP:0012639	Abnormal nervous system morphology	6620	SNCB	OMIM:127750
HP:0012639	Abnormal nervous system morphology	56978	PRDM8	ORPHA:324290
HP:0012639	Abnormal nervous system morphology	56978	PRDM8	OMIM:616640
HP:0012639	Abnormal nervous system morphology	51218	GLRX5	ORPHA:401866
HP:0012639	Abnormal nervous system morphology	79798	ARMC5	ORPHA:189427
HP:0012639	Abnormal nervous system morphology	2778	GNAS	ORPHA:189427
HP:0012639	Abnormal nervous system morphology	2658	GDF2	ORPHA:774
HP:0012639	Abnormal nervous system morphology	4089	SMAD4	ORPHA:774
HP:0012639	Abnormal nervous system morphology	5116	PCNT	ORPHA:2637
HP:0012639	Abnormal nervous system morphology	9820	CUL7	ORPHA:2616
HP:0012639	Abnormal nervous system morphology	23363	OBSL1	ORPHA:2616
HP:0012639	Abnormal nervous system morphology	83987	CCDC8	ORPHA:2616
HP:0012639	Abnormal nervous system morphology	59	ACTA2	ORPHA:2573
HP:0012639	Abnormal nervous system morphology	57674	RNF213	ORPHA:2573
HP:0012639	Abnormal nervous system morphology	5627	PROS1	ORPHA:743
HP:0012639	Abnormal nervous system morphology	5624	PROC	ORPHA:745
HP:0012639	Abnormal nervous system morphology	56922	MCCC1	ORPHA:6
HP:0012639	Abnormal nervous system morphology	64087	MCCC2	ORPHA:6
HP:0012639	Abnormal nervous system morphology	2982	GUCY1A1	ORPHA:401945
HP:0012639	Abnormal nervous system morphology	10019	SH2B3	ORPHA:3318
HP:0012639	Abnormal nervous system morphology	811	CALR	ORPHA:3318
HP:0012639	Abnormal nervous system morphology	4352	MPL	ORPHA:3318
HP:0012639	Abnormal nervous system morphology	3717	JAK2	ORPHA:3318
HP:0012639	Abnormal nervous system morphology	54790	TET2	ORPHA:3318
HP:0012639	Abnormal nervous system morphology	84168	ANTXR1	ORPHA:2067
HP:0012639	Abnormal nervous system morphology	5167	ENPP1	ORPHA:758
HP:0012639	Abnormal nervous system morphology	368	ABCC6	ORPHA:758
HP:0012639	Abnormal nervous system morphology	326	AIRE	ORPHA:3453
HP:0012639	Abnormal nervous system morphology	57169	ZNFX1	OMIM:619644
HP:0012639	Abnormal nervous system morphology	51726	DNAJB11	ORPHA:730
HP:0012639	Abnormal nervous system morphology	23193	GANAB	ORPHA:730
HP:0012639	Abnormal nervous system morphology	5310	PKD1	ORPHA:730
HP:0012639	Abnormal nervous system morphology	5311	PKD2	ORPHA:730
HP:0012639	Abnormal nervous system morphology	29880	ALG5	ORPHA:730
HP:0012639	Abnormal nervous system morphology	80114	BICC1	ORPHA:730
HP:0012639	Abnormal nervous system morphology	537	ATP6AP1	OMIM:300972
HP:0012639	Abnormal nervous system morphology	63929	XPNPEP3	OMIM:613159
HP:0012639	Abnormal nervous system morphology	2202	EFEMP1	OMIM:620780
HP:0012639	Abnormal nervous system morphology	64218	SEMA4A	ORPHA:440437
HP:0012639	Abnormal nervous system morphology	472	ATM	ORPHA:440437
HP:0012639	Abnormal nervous system morphology	657	BMPR1A	ORPHA:440437
HP:0012639	Abnormal nervous system morphology	6224	RPS20	ORPHA:440437
HP:0012639	Abnormal nervous system morphology	4595	MUTYH	ORPHA:440437
HP:0012639	Abnormal nervous system morphology	4072	EPCAM	ORPHA:144
HP:0012639	Abnormal nervous system morphology	2956	MSH6	ORPHA:144
HP:0012639	Abnormal nervous system morphology	5378	PMS1	ORPHA:144
HP:0012639	Abnormal nervous system morphology	4436	MSH2	ORPHA:144
HP:0012639	Abnormal nervous system morphology	9508	ADAMTS3	ORPHA:2136
HP:0012639	Abnormal nervous system morphology	147372	CCBE1	ORPHA:2136
HP:0012639	Abnormal nervous system morphology	4952	OCRL	ORPHA:534
HP:0012639	Abnormal nervous system morphology	51057	WDPCP	ORPHA:1338
HP:0012639	Abnormal nervous system morphology	55717	WDR11	ORPHA:95496
HP:0012639	Abnormal nervous system morphology	23432	GPR161	ORPHA:95496
HP:0012639	Abnormal nervous system morphology	4361	MRE11	ORPHA:251347
HP:0012639	Abnormal nervous system morphology	3661	IRF3	OMIM:616532
HP:0012639	Abnormal nervous system morphology	22934	RPIA	OMIM:608611
HP:0012639	Abnormal nervous system morphology	57094	CPA6	OMIM:614418
HP:0012639	Abnormal nervous system morphology	275	AMT	OMIM:620398
HP:0012639	Abnormal nervous system morphology	6558	SLC12A2	OMIM:619080
HP:0012639	Abnormal nervous system morphology	55165	CEP55	OMIM:236500
HP:0012639	Abnormal nervous system morphology	6850	SYK	OMIM:619381
HP:0012639	Abnormal nervous system morphology	8893	EIF2B5	OMIM:620315
HP:0012639	Abnormal nervous system morphology	51704	GPRC5B	OMIM:620447
HP:0012639	Abnormal nervous system morphology	361	AQP4	OMIM:620448
HP:0012639	Abnormal nervous system morphology	5274	SERPINI1	OMIM:604218
HP:0012639	Abnormal nervous system morphology	57728	WDR19	OMIM:614378
HP:0007335	Recurrent encephalopathy	1374	CPT1A	OMIM:255120
HP:0007338	Hypermetric saccades	3708	ITPR1	OMIM:606658
HP:0007338	Hypermetric saccades	55187	VPS13D	OMIM:607317
HP:0007338	Hypermetric saccades	55187	VPS13D	ORPHA:95434
HP:0007338	Hypermetric saccades	10935	PRDX3	OMIM:619862
HP:0007338	Hypermetric saccades	2911	GRM1	OMIM:617691
HP:0007338	Hypermetric saccades	7515	XRCC1	OMIM:617633
HP:0007338	Hypermetric saccades	54834	GDAP2	OMIM:618369
HP:0007338	Hypermetric saccades	1200	TPP1	OMIM:609270
HP:0007338	Hypermetric saccades	3781	KCNN2	OMIM:619724
HP:0007338	Hypermetric saccades	339453	TMEM240	OMIM:607454
HP:0007338	Hypermetric saccades	55129	ANO10	OMIM:613728
HP:0007338	Hypermetric saccades	27072	VPS41	ORPHA:95434
HP:0007338	Hypermetric saccades	6310	ATXN1	ORPHA:98755
HP:0031544	Elevated circulating palmitoleylcarnitine concentration	25974	MMACHC	ORPHA:79282
HP:0031544	Elevated circulating palmitoleylcarnitine concentration	55788	LMBRD1	ORPHA:79284
HP:0031544	Elevated circulating palmitoleylcarnitine concentration	84693	MCEE	OMIM:251120
HP:0033466	Weak grip	57863	CADM3	OMIM:619519
HP:0033465	Elevated circulating tetradecanoylcarnitine concentration	51241	COX16	OMIM:619355
HP:0033465	Elevated circulating tetradecanoylcarnitine concentration	128989	TANGO2	OMIM:616878
HP:0030203	Unfavorable response of muscle weakness to acetylcholine esterase inhibitors	8292	COLQ	ORPHA:98915
HP:0030203	Unfavorable response of muscle weakness to acetylcholine esterase inhibitors	3913	LAMB2	ORPHA:98915
HP:0007341	Diffuse swelling of cerebral white matter	220296	HEPACAM	OMIM:604004
HP:0007341	Diffuse swelling of cerebral white matter	220296	HEPACAM	OMIM:613925
HP:0007341	Diffuse swelling of cerebral white matter	220296	HEPACAM	OMIM:613926
HP:0007341	Diffuse swelling of cerebral white matter	23209	MLC1	OMIM:604004
HP:0007343	Abnormal morphology of the limbic system	2263	FGFR2	OMIM:101200
HP:0007343	Abnormal morphology of the limbic system	9839	ZEB2	ORPHA:261537
HP:0007343	Abnormal morphology of the limbic system	9839	ZEB2	ORPHA:261552
HP:0007343	Abnormal morphology of the limbic system	9839	ZEB2	OMIM:235730
HP:0007343	Abnormal morphology of the limbic system	23230	VPS13A	ORPHA:2388
HP:0007343	Abnormal morphology of the limbic system	7025	NR2F1	ORPHA:401777
HP:0007343	Abnormal morphology of the limbic system	10815	CPLX1	ORPHA:352582
HP:0007343	Abnormal morphology of the limbic system	57465	TBC1D24	ORPHA:352582
HP:0007343	Abnormal morphology of the limbic system	2902	GRIN1	ORPHA:208447
HP:0007343	Abnormal morphology of the limbic system	23499	MACF1	ORPHA:572013
HP:0007343	Abnormal morphology of the limbic system	387119	CEP85L	ORPHA:572013
HP:0007343	Abnormal morphology of the limbic system	7846	TUBA1A	ORPHA:171680
HP:0007343	Abnormal morphology of the limbic system	10381	TUBB3	ORPHA:300570
HP:0007343	Abnormal morphology of the limbic system	5888	RAD51	ORPHA:238722
HP:0007343	Abnormal morphology of the limbic system	10126	DNAL4	ORPHA:238722
HP:0007343	Abnormal morphology of the limbic system	9423	NTN1	ORPHA:238722
HP:0007343	Abnormal morphology of the limbic system	1630	DCC	ORPHA:238722
HP:0007343	Abnormal morphology of the limbic system	56896	DPYSL5	OMIM:619435
HP:0007343	Abnormal morphology of the limbic system	6335	SCN9A	ORPHA:33069
HP:0007343	Abnormal morphology of the limbic system	6326	SCN2A	ORPHA:33069
HP:0007343	Abnormal morphology of the limbic system	2554	GABRA1	ORPHA:33069
HP:0007343	Abnormal morphology of the limbic system	6323	SCN1A	ORPHA:33069
HP:0007343	Abnormal morphology of the limbic system	6324	SCN1B	ORPHA:33069
HP:0007343	Abnormal morphology of the limbic system	57526	PCDH19	ORPHA:33069
HP:0007343	Abnormal morphology of the limbic system	2566	GABRG2	ORPHA:33069
HP:0007343	Abnormal morphology of the limbic system	23030	KDM4B	OMIM:619320
HP:0007343	Abnormal morphology of the limbic system	4522	MTHFD1	OMIM:617780
HP:0007343	Abnormal morphology of the limbic system	10617	STAMBP	OMIM:614261
HP:0007343	Abnormal morphology of the limbic system	2009	EML1	OMIM:600348
HP:0007343	Abnormal morphology of the limbic system	79587	CARS2	ORPHA:477774
HP:0007343	Abnormal morphology of the limbic system	28962	OSTM1	ORPHA:85179
HP:0007343	Abnormal morphology of the limbic system	1182	CLCN3	OMIM:619517
HP:0007343	Abnormal morphology of the limbic system	478	ATP1A3	OMIM:619606
HP:0007343	Abnormal morphology of the limbic system	738	VPS51	OMIM:618606
HP:0007343	Abnormal morphology of the limbic system	7355	SLC35A2	ORPHA:356961
HP:0007343	Abnormal morphology of the limbic system	54820	NDE1	ORPHA:2177
HP:0007343	Abnormal morphology of the limbic system	6925	TCF4	OMIM:610954
HP:0007343	Abnormal morphology of the limbic system	5457	POU4F1	ORPHA:314647
HP:0007343	Abnormal morphology of the limbic system	23261	CAMTA1	ORPHA:314647
HP:0007343	Abnormal morphology of the limbic system	6900	CNTN2	OMIM:615400
HP:0007343	Abnormal morphology of the limbic system	51117	COQ4	OMIM:620666
HP:0007343	Abnormal morphology of the limbic system	26834	RNU4-2	OMIM:620851
HP:0007343	Abnormal morphology of the limbic system	11023	VAX1	OMIM:614402
HP:0007343	Abnormal morphology of the limbic system	5908	RAP1B	OMIM:620654
HP:0007343	Abnormal morphology of the limbic system	10695	CNPY3	OMIM:617929
HP:0007343	Abnormal morphology of the limbic system	1763	DNA2	OMIM:620819
HP:0007343	Abnormal morphology of the limbic system	100151683	RNU4ATAC	ORPHA:353298
HP:0007343	Abnormal morphology of the limbic system	2917	GRM7	OMIM:618922
HP:0007343	Abnormal morphology of the limbic system	5927	KDM5A	OMIM:620820
HP:0007343	Abnormal morphology of the limbic system	57094	CPA6	OMIM:614418
HP:0007343	Abnormal morphology of the limbic system	29998	BICRA	OMIM:619325
HP:0007343	Abnormal morphology of the limbic system	4750	NEK1	OMIM:617892
HP:0007343	Abnormal morphology of the limbic system	84631	SLITRK2	OMIM:301107
HP:0007343	Abnormal morphology of the limbic system	10347	ABCA7	OMIM:608907
HP:0007344	Atrophy/Degeneration involving the spinal cord	1130	LYST	ORPHA:167
HP:0007344	Atrophy/Degeneration involving the spinal cord	23064	SETX	OMIM:602433
HP:0007344	Atrophy/Degeneration involving the spinal cord	6687	SPG7	ORPHA:35689
HP:0007344	Atrophy/Degeneration involving the spinal cord	5611	DNAJC3	ORPHA:445062
HP:0007344	Atrophy/Degeneration involving the spinal cord	4524	MTHFR	ORPHA:395
HP:0007344	Atrophy/Degeneration involving the spinal cord	10908	PNPLA6	ORPHA:139480
HP:0007344	Atrophy/Degeneration involving the spinal cord	10908	PNPLA6	OMIM:612020
HP:0007344	Atrophy/Degeneration involving the spinal cord	79152	FA2H	ORPHA:329308
HP:0007344	Atrophy/Degeneration involving the spinal cord	215	ABCD1	ORPHA:139399
HP:0007344	Atrophy/Degeneration involving the spinal cord	9420	CYP7B1	ORPHA:100986
HP:0007344	Atrophy/Degeneration involving the spinal cord	22948	CCT5	OMIM:256840
HP:0007344	Atrophy/Degeneration involving the spinal cord	80208	SPG11	ORPHA:2822
HP:0007344	Atrophy/Degeneration involving the spinal cord	22880	MORC2	ORPHA:466768
HP:0007344	Atrophy/Degeneration involving the spinal cord	25974	MMACHC	ORPHA:79282
HP:0007344	Atrophy/Degeneration involving the spinal cord	5832	ALDH18A1	ORPHA:447757
HP:0007344	Atrophy/Degeneration involving the spinal cord	4001	LMNB1	ORPHA:99027
HP:0007344	Atrophy/Degeneration involving the spinal cord	56652	TWNK	OMIM:607459
HP:0007344	Atrophy/Degeneration involving the spinal cord	56652	TWNK	ORPHA:70595
HP:0007344	Atrophy/Degeneration involving the spinal cord	5428	POLG	OMIM:607459
HP:0007344	Atrophy/Degeneration involving the spinal cord	5428	POLG	ORPHA:70595
HP:0007344	Atrophy/Degeneration involving the spinal cord	2670	GFAP	ORPHA:363722
HP:0007344	Atrophy/Degeneration involving the spinal cord	4747	NEFL	ORPHA:101085
HP:0007344	Atrophy/Degeneration involving the spinal cord	5297	PI4KA	OMIM:619621
HP:0007344	Atrophy/Degeneration involving the spinal cord	2395	FXN	ORPHA:95
HP:0012640	Abnormality of intracranial pressure	7291	TWIST1	ORPHA:794
HP:0012640	Abnormality of intracranial pressure	7291	TWIST1	ORPHA:35093
HP:0012640	Abnormality of intracranial pressure	7291	TWIST1	ORPHA:35099
HP:0012640	Abnormality of intracranial pressure	2263	FGFR2	ORPHA:794
HP:0012640	Abnormality of intracranial pressure	2263	FGFR2	ORPHA:93260
HP:0012640	Abnormality of intracranial pressure	2263	FGFR2	ORPHA:207
HP:0012640	Abnormality of intracranial pressure	2263	FGFR2	ORPHA:93259
HP:0012640	Abnormality of intracranial pressure	2261	FGFR3	ORPHA:794
HP:0012640	Abnormality of intracranial pressure	2261	FGFR3	ORPHA:53271
HP:0012640	Abnormality of intracranial pressure	2261	FGFR3	ORPHA:93262
HP:0012640	Abnormality of intracranial pressure	2261	FGFR3	ORPHA:35099
HP:0012640	Abnormality of intracranial pressure	50964	SOST	OMIM:269500
HP:0012640	Abnormality of intracranial pressure	50964	SOST	OMIM:122860
HP:0012640	Abnormality of intracranial pressure	26160	IFT172	OMIM:619471
HP:0012640	Abnormality of intracranial pressure	2077	ERF	OMIM:600775
HP:0012640	Abnormality of intracranial pressure	2077	ERF	ORPHA:207
HP:0012640	Abnormality of intracranial pressure	2077	ERF	ORPHA:35093
HP:0012640	Abnormality of intracranial pressure	4041	LRP5	ORPHA:178377
HP:0012640	Abnormality of intracranial pressure	114548	NLRP3	OMIM:191900
HP:0012640	Abnormality of intracranial pressure	114548	NLRP3	ORPHA:1451
HP:0012640	Abnormality of intracranial pressure	2584	GALK1	OMIM:230200
HP:0012640	Abnormality of intracranial pressure	324	APC	ORPHA:99818
HP:0012640	Abnormality of intracranial pressure	8314	BAP1	ORPHA:2495
HP:0012640	Abnormality of intracranial pressure	4771	NF2	ORPHA:2495
HP:0012640	Abnormality of intracranial pressure	6598	SMARCB1	ORPHA:2495
HP:0012640	Abnormality of intracranial pressure	5155	PDGFB	ORPHA:2495
HP:0012640	Abnormality of intracranial pressure	84231	TRAF7	ORPHA:2495
HP:0012640	Abnormality of intracranial pressure	6608	SMO	ORPHA:2495
HP:0012640	Abnormality of intracranial pressure	207	AKT1	ORPHA:2495
HP:0012640	Abnormality of intracranial pressure	207	AKT1	ORPHA:201
HP:0012640	Abnormality of intracranial pressure	5290	PIK3CA	ORPHA:2495
HP:0012640	Abnormality of intracranial pressure	5290	PIK3CA	ORPHA:144
HP:0012640	Abnormality of intracranial pressure	5290	PIK3CA	ORPHA:221061
HP:0012640	Abnormality of intracranial pressure	5290	PIK3CA	ORPHA:201
HP:0012640	Abnormality of intracranial pressure	7015	TERT	ORPHA:2495
HP:0012640	Abnormality of intracranial pressure	51684	SUFU	ORPHA:2495
HP:0012640	Abnormality of intracranial pressure	6605	SMARCE1	ORPHA:2495
HP:0012640	Abnormality of intracranial pressure	6660	SOX5	ORPHA:626
HP:0012640	Abnormality of intracranial pressure	238	ALK	ORPHA:626
HP:0012640	Abnormality of intracranial pressure	9839	ZEB2	ORPHA:626
HP:0012640	Abnormality of intracranial pressure	4893	NRAS	ORPHA:626
HP:0012640	Abnormality of intracranial pressure	673	BRAF	ORPHA:626
HP:0012640	Abnormality of intracranial pressure	673	BRAF	ORPHA:54595
HP:0012640	Abnormality of intracranial pressure	5894	RAF1	ORPHA:626
HP:0012640	Abnormality of intracranial pressure	2767	GNA11	ORPHA:428
HP:0012640	Abnormality of intracranial pressure	846	CASR	ORPHA:428
HP:0012640	Abnormality of intracranial pressure	4072	EPCAM	ORPHA:144
HP:0012640	Abnormality of intracranial pressure	4292	MLH1	ORPHA:144
HP:0012640	Abnormality of intracranial pressure	5395	PMS2	ORPHA:144
HP:0012640	Abnormality of intracranial pressure	7048	TGFBR2	ORPHA:144
HP:0012640	Abnormality of intracranial pressure	3845	KRAS	ORPHA:144
HP:0012640	Abnormality of intracranial pressure	2956	MSH6	ORPHA:144
HP:0012640	Abnormality of intracranial pressure	5378	PMS1	ORPHA:144
HP:0012640	Abnormality of intracranial pressure	4436	MSH2	ORPHA:144
HP:0012640	Abnormality of intracranial pressure	5551	PRF1	OMIM:603553
HP:0012640	Abnormality of intracranial pressure	79848	CSPP1	ORPHA:397715
HP:0012640	Abnormality of intracranial pressure	9786	KIAA0586	ORPHA:397715
HP:0012640	Abnormality of intracranial pressure	11235	PDCD10	ORPHA:221061
HP:0012640	Abnormality of intracranial pressure	83605	CCM2	ORPHA:221061
HP:0012640	Abnormality of intracranial pressure	889	KRIT1	ORPHA:221061
HP:0012640	Abnormality of intracranial pressure	64218	SEMA4A	ORPHA:440437
HP:0012640	Abnormality of intracranial pressure	472	ATM	ORPHA:440437
HP:0012640	Abnormality of intracranial pressure	5426	POLE	ORPHA:440437
HP:0012640	Abnormality of intracranial pressure	675	BRCA2	ORPHA:440437
HP:0012640	Abnormality of intracranial pressure	657	BMPR1A	ORPHA:440437
HP:0012640	Abnormality of intracranial pressure	6224	RPS20	ORPHA:440437
HP:0012640	Abnormality of intracranial pressure	4595	MUTYH	ORPHA:440437
HP:0012640	Abnormality of intracranial pressure	5424	POLD1	ORPHA:440437
HP:0012640	Abnormality of intracranial pressure	11200	CHEK2	ORPHA:440437
HP:0012640	Abnormality of intracranial pressure	3662	IRF4	ORPHA:3452
HP:0012640	Abnormality of intracranial pressure	7428	VHL	ORPHA:892
HP:0012640	Abnormality of intracranial pressure	595	CCND1	ORPHA:892
HP:0012640	Abnormality of intracranial pressure	22943	DKK1	ORPHA:268882
HP:0012640	Abnormality of intracranial pressure	727676	SNORD118	ORPHA:542310
HP:0012640	Abnormality of intracranial pressure	63916	ELMO2	OMIM:606893
HP:0012640	Abnormality of intracranial pressure	2581	GALC	ORPHA:206436
HP:0012640	Abnormality of intracranial pressure	5660	PSAP	ORPHA:206436
HP:0012640	Abnormality of intracranial pressure	2260	FGFR1	ORPHA:3366
HP:0012640	Abnormality of intracranial pressure	158326	FREM1	ORPHA:3366
HP:0012640	Abnormality of intracranial pressure	1513	CTSK	ORPHA:763
HP:0012640	Abnormality of intracranial pressure	10483	SEC23B	ORPHA:201
HP:0012640	Abnormality of intracranial pressure	5728	PTEN	ORPHA:201
HP:0012640	Abnormality of intracranial pressure	5728	PTEN	ORPHA:65285
HP:0012640	Abnormality of intracranial pressure	6390	SDHB	ORPHA:201
HP:0012640	Abnormality of intracranial pressure	6392	SDHD	ORPHA:201
HP:0012640	Abnormality of intracranial pressure	6391	SDHC	ORPHA:201
HP:0012640	Abnormality of intracranial pressure	205717	USF3	ORPHA:201
HP:0012640	Abnormality of intracranial pressure	100144748	KLLN	ORPHA:201
HP:0012640	Abnormality of intracranial pressure	3897	L1CAM	ORPHA:2182
HP:0012640	Abnormality of intracranial pressure	5144	PDE4D	ORPHA:439822
HP:0012640	Abnormality of intracranial pressure	5144	PDE4D	OMIM:614613
HP:0012640	Abnormality of intracranial pressure	60529	ALX4	ORPHA:35093
HP:0012640	Abnormality of intracranial pressure	84168	ANTXR1	ORPHA:2067
HP:0012640	Abnormality of intracranial pressure	149233	IL23R	ORPHA:117
HP:0012640	Abnormality of intracranial pressure	6775	STAT4	ORPHA:117
HP:0012640	Abnormality of intracranial pressure	3586	IL10	ORPHA:117
HP:0012640	Abnormality of intracranial pressure	4210	MEFV	ORPHA:117
HP:0012640	Abnormality of intracranial pressure	1230	CCR1	ORPHA:117
HP:0012640	Abnormality of intracranial pressure	355	FAS	ORPHA:117
HP:0012640	Abnormality of intracranial pressure	3592	IL12A	ORPHA:117
HP:0012640	Abnormality of intracranial pressure	101928376	IL12A-AS1	ORPHA:117
HP:0012640	Abnormality of intracranial pressure	3106	HLA-B	ORPHA:117
HP:0012640	Abnormality of intracranial pressure	7099	TLR4	ORPHA:117
HP:0012640	Abnormality of intracranial pressure	3459	IFNGR1	ORPHA:117
HP:0012640	Abnormality of intracranial pressure	720	C4A	ORPHA:117
HP:0012640	Abnormality of intracranial pressure	337867	UBAC2	ORPHA:117
HP:0012640	Abnormality of intracranial pressure	51752	ERAP1	ORPHA:117
HP:0012640	Abnormality of intracranial pressure	8302	KLRC4	ORPHA:117
HP:0012640	Abnormality of intracranial pressure	1499	CTNNB1	ORPHA:54595
HP:0012640	Abnormality of intracranial pressure	6938	TCF12	ORPHA:35099
HP:0012640	Abnormality of intracranial pressure	7545	ZIC1	ORPHA:35099
HP:0012642	Cerebellar agenesis	124997	WDR81	OMIM:617967
HP:0012642	Cerebellar agenesis	2019	EN1	OMIM:619218
HP:0012642	Cerebellar agenesis	256297	PTF1A	OMIM:609069
HP:0012643	Foveal hypopigmentation	348	APOE	OMIM:603075
HP:0012643	Foveal hypopigmentation	10878	CFHR3	OMIM:603075
HP:0012643	Foveal hypopigmentation	83872	HMCN1	OMIM:603075
HP:0012643	Foveal hypopigmentation	3078	CFHR1	OMIM:603075
HP:0012645	Enlarged peripheral nerve	4000	LMNA	OMIM:151660
HP:0012646	Retractile testis	2516	NR5A1	OMIM:617480
HP:0012646	Retractile testis	51574	LARP7	OMIM:615071
HP:0012646	Retractile testis	6904	TBCD	OMIM:617193
HP:0012646	Retractile testis	5422	POLA1	ORPHA:163976
HP:0012647	Abnormal inflammatory response	3081	HGD	ORPHA:56
HP:0012647	Abnormal inflammatory response	695	BTK	OMIM:300755
HP:0012647	Abnormal inflammatory response	695	BTK	OMIM:307200
HP:0012647	Abnormal inflammatory response	7374	UNG	OMIM:608106
HP:0012647	Abnormal inflammatory response	5696	PSMB8	OMIM:256040
HP:0012647	Abnormal inflammatory response	4067	LYN	OMIM:620376
HP:0012647	Abnormal inflammatory response	3514	IGKC	ORPHA:183675
HP:0012647	Abnormal inflammatory response	3501	IGHG2	ORPHA:183675
HP:0012647	Abnormal inflammatory response	144811	LACC1	ORPHA:85414
HP:0012647	Abnormal inflammatory response	3569	IL6	ORPHA:85414
HP:0012647	Abnormal inflammatory response	3426	CFI	OMIM:610984
HP:0012647	Abnormal inflammatory response	81494	CFHR5	OMIM:614809
HP:0012647	Abnormal inflammatory response	4311	MME	ORPHA:69063
HP:0012647	Abnormal inflammatory response	3913	LAMB2	OMIM:614199
HP:0012647	Abnormal inflammatory response	6892	TAPBP	OMIM:620814
HP:0012647	Abnormal inflammatory response	57728	WDR19	OMIM:614376
HP:0012647	Abnormal inflammatory response	81603	TRIM8	OMIM:619428
HP:0012647	Abnormal inflammatory response	7369	UMOD	OMIM:162000
HP:0012647	Abnormal inflammatory response	4613	MYCN	ORPHA:391641
HP:0012647	Abnormal inflammatory response	1286	COL4A4	OMIM:203780
HP:0012647	Abnormal inflammatory response	4010	LMX1B	ORPHA:2614
HP:0012647	Abnormal inflammatory response	1285	COL4A3	OMIM:104200
HP:0012647	Abnormal inflammatory response	6696	SPP1	ORPHA:93552
HP:0012647	Abnormal inflammatory response	6303	SAT1	ORPHA:93552
HP:0012647	Abnormal inflammatory response	3654	IRAK1	ORPHA:93552
HP:0012647	Abnormal inflammatory response	7840	ALMS1	OMIM:203800
HP:0012647	Abnormal inflammatory response	331	XIAP	ORPHA:538934
HP:0012647	Abnormal inflammatory response	3162	HMOX1	OMIM:614034
HP:0012647	Abnormal inflammatory response	2212	FCGR2A	OMIM:152700
HP:0012647	Abnormal inflammatory response	2213	FCGR2B	OMIM:152700
HP:0012647	Abnormal inflammatory response	11277	TREX1	OMIM:152700
HP:0012647	Abnormal inflammatory response	1773	DNASE1	OMIM:152700
HP:0012647	Abnormal inflammatory response	65082	VPS33A	OMIM:617303
HP:0012647	Abnormal inflammatory response	843	CASP10	OMIM:603909
HP:0012647	Abnormal inflammatory response	5340	PLG	OMIM:217090
HP:0012647	Abnormal inflammatory response	4627	MYH9	ORPHA:182050
HP:0012647	Abnormal inflammatory response	1287	COL4A5	OMIM:301050
HP:0012647	Abnormal inflammatory response	977	CD151	OMIM:609057
HP:0012647	Abnormal inflammatory response	847	CAT	ORPHA:926
HP:0012647	Abnormal inflammatory response	100	ADA	ORPHA:277
HP:0012647	Abnormal inflammatory response	100	ADA	OMIM:102700
HP:0012647	Abnormal inflammatory response	1789	DNMT3B	OMIM:242860
HP:0012647	Abnormal inflammatory response	4683	NBN	OMIM:251260
HP:0012647	Abnormal inflammatory response	2332	FMR1	ORPHA:908
HP:0012647	Abnormal inflammatory response	4860	PNP	OMIM:613179
HP:0012647	Abnormal inflammatory response	3659	IRF1	OMIM:620668
HP:0012647	Abnormal inflammatory response	7454	WAS	ORPHA:906
HP:0012647	Abnormal inflammatory response	7456	WIPF1	ORPHA:906
HP:0012647	Abnormal inflammatory response	3561	IL2RG	OMIM:312863
HP:0012647	Abnormal inflammatory response	6804	STX1A	ORPHA:586
HP:0012647	Abnormal inflammatory response	2947	GSTM3	ORPHA:586
HP:0012647	Abnormal inflammatory response	7040	TGFB1	ORPHA:586
HP:0012647	Abnormal inflammatory response	2729	GCLC	ORPHA:586
HP:0012647	Abnormal inflammatory response	1084	CEACAM3	ORPHA:586
HP:0012647	Abnormal inflammatory response	6556	SLC11A1	ORPHA:586
HP:0012647	Abnormal inflammatory response	51164	DCTN4	ORPHA:586
HP:0012647	Abnormal inflammatory response	3783	KCNN4	ORPHA:586
HP:0012647	Abnormal inflammatory response	4282	MIF	ORPHA:586
HP:0012647	Abnormal inflammatory response	1909	EDNRA	ORPHA:586
HP:0012647	Abnormal inflammatory response	6550	SLC9A3	ORPHA:586
HP:0012647	Abnormal inflammatory response	115019	SLC26A9	ORPHA:586
HP:0012647	Abnormal inflammatory response	3077	HFE	ORPHA:586
HP:0012647	Abnormal inflammatory response	11254	SLC6A14	ORPHA:586
HP:0012647	Abnormal inflammatory response	5265	SERPINA1	ORPHA:586
HP:0012647	Abnormal inflammatory response	1080	CFTR	ORPHA:586
HP:0012647	Abnormal inflammatory response	22802	CLCA4	ORPHA:586
HP:0012647	Abnormal inflammatory response	4680	CEACAM6	ORPHA:586
HP:0012647	Abnormal inflammatory response	472	ATM	OMIM:208900
HP:0012647	Abnormal inflammatory response	8456	FOXN1	ORPHA:83471
HP:0012647	Abnormal inflammatory response	1536	CYBB	ORPHA:379
HP:0012647	Abnormal inflammatory response	4688	NCF2	ORPHA:379
HP:0012647	Abnormal inflammatory response	1535	CYBA	ORPHA:379
HP:0012647	Abnormal inflammatory response	4689	NCF4	ORPHA:379
HP:0012647	Abnormal inflammatory response	653361	NCF1	ORPHA:379
HP:0012647	Abnormal inflammatory response	79415	CYBC1	ORPHA:379
HP:0012647	Abnormal inflammatory response	1991	ELANE	ORPHA:2686
HP:0012647	Abnormal inflammatory response	134218	DNAJC21	ORPHA:811
HP:0012647	Abnormal inflammatory response	79631	EFL1	ORPHA:811
HP:0012647	Abnormal inflammatory response	51119	SBDS	ORPHA:811
HP:0012647	Abnormal inflammatory response	5994	RFXAP	ORPHA:572
HP:0012647	Abnormal inflammatory response	4261	CIITA	ORPHA:572
HP:0012647	Abnormal inflammatory response	5993	RFX5	ORPHA:572
HP:0012647	Abnormal inflammatory response	8625	RFXANK	ORPHA:572
HP:0012647	Abnormal inflammatory response	4256	MGP	OMIM:245150
HP:0012647	Abnormal inflammatory response	5692	PSMB4	OMIM:617591
HP:0012647	Abnormal inflammatory response	3394	IRF8	OMIM:226990
HP:0012647	Abnormal inflammatory response	7852	CXCR4	ORPHA:51636
HP:0012647	Abnormal inflammatory response	4763	NF1	ORPHA:363700
HP:0012647	Abnormal inflammatory response	860	RUNX2	ORPHA:1452
HP:0012647	Abnormal inflammatory response	51314	NME8	OMIM:610852
HP:0012647	Abnormal inflammatory response	352909	DNAAF3	OMIM:606763
HP:0012647	Abnormal inflammatory response	3321	IGSF3	OMIM:149700
HP:0012647	Abnormal inflammatory response	6929	TCF3	ORPHA:33110
HP:0012647	Abnormal inflammatory response	7922	SLC39A7	ORPHA:33110
HP:0012647	Abnormal inflammatory response	973	CD79A	ORPHA:33110
HP:0012647	Abnormal inflammatory response	974	CD79B	ORPHA:33110
HP:0012647	Abnormal inflammatory response	6688	SPI1	ORPHA:33110
HP:0012647	Abnormal inflammatory response	3543	IGLL1	ORPHA:33110
HP:0012647	Abnormal inflammatory response	3507	IGHM	ORPHA:33110
HP:0012647	Abnormal inflammatory response	29760	BLNK	ORPHA:33110
HP:0012647	Abnormal inflammatory response	5295	PIK3R1	ORPHA:33110
HP:0012647	Abnormal inflammatory response	56262	LRRC8A	ORPHA:33110
HP:0012647	Abnormal inflammatory response	79158	GNPTAB	ORPHA:576
HP:0012647	Abnormal inflammatory response	2263	FGFR2	ORPHA:87
HP:0012647	Abnormal inflammatory response	915	CD3D	ORPHA:169160
HP:0012647	Abnormal inflammatory response	916	CD3E	ORPHA:169160
HP:0012647	Abnormal inflammatory response	919	CD247	ORPHA:169160
HP:0012647	Abnormal inflammatory response	64421	DCLRE1C	ORPHA:275
HP:0012647	Abnormal inflammatory response	64421	DCLRE1C	OMIM:602450
HP:0012647	Abnormal inflammatory response	92482	BBIP1	ORPHA:110
HP:0012647	Abnormal inflammatory response	80184	CEP290	ORPHA:110
HP:0012647	Abnormal inflammatory response	11020	IFT27	ORPHA:110
HP:0012647	Abnormal inflammatory response	582	BBS1	ORPHA:110
HP:0012647	Abnormal inflammatory response	49855	SCAPER	ORPHA:110
HP:0012647	Abnormal inflammatory response	4867	NPHP1	ORPHA:110
HP:0012647	Abnormal inflammatory response	51057	WDPCP	ORPHA:110
HP:0012647	Abnormal inflammatory response	132320	SCLT1	ORPHA:110
HP:0012647	Abnormal inflammatory response	27241	BBS9	ORPHA:110
HP:0012647	Abnormal inflammatory response	84984	CEP19	ORPHA:110
HP:0012647	Abnormal inflammatory response	22954	TRIM32	ORPHA:110
HP:0012647	Abnormal inflammatory response	54903	MKS1	ORPHA:110
HP:0012647	Abnormal inflammatory response	79738	BBS10	ORPHA:110
HP:0012647	Abnormal inflammatory response	123016	TTC8	ORPHA:110
HP:0012647	Abnormal inflammatory response	26160	IFT172	ORPHA:110
HP:0012647	Abnormal inflammatory response	583	BBS2	ORPHA:110
HP:0012647	Abnormal inflammatory response	585	BBS4	ORPHA:110
HP:0012647	Abnormal inflammatory response	8195	MKKS	ORPHA:110
HP:0012647	Abnormal inflammatory response	54585	LZTFL1	ORPHA:110
HP:0012647	Abnormal inflammatory response	55212	BBS7	ORPHA:110
HP:0012647	Abnormal inflammatory response	166379	BBS12	ORPHA:110
HP:0012647	Abnormal inflammatory response	10806	SDCCAG8	ORPHA:110
HP:0012647	Abnormal inflammatory response	157657	CFAP418	ORPHA:110
HP:0012647	Abnormal inflammatory response	84100	ARL6	ORPHA:110
HP:0012647	Abnormal inflammatory response	129880	BBS5	ORPHA:110
HP:0012647	Abnormal inflammatory response	80173	IFT74	ORPHA:110
HP:0012647	Abnormal inflammatory response	6103	RPGR	OMIM:300455
HP:0012647	Abnormal inflammatory response	64324	NSD1	OMIM:117550
HP:0012647	Abnormal inflammatory response	152110	NEK10	OMIM:618781
HP:0012647	Abnormal inflammatory response	6711	SPTBN1	OMIM:619475
HP:0012647	Abnormal inflammatory response	1387	CREBBP	ORPHA:353277
HP:0012647	Abnormal inflammatory response	1387	CREBBP	ORPHA:353281
HP:0012647	Abnormal inflammatory response	92579	G6PC3	OMIM:612541
HP:0012647	Abnormal inflammatory response	25836	NIPBL	OMIM:122470
HP:0012647	Abnormal inflammatory response	3575	IL7R	OMIM:608971
HP:0012647	Abnormal inflammatory response	10312	TCIRG1	ORPHA:667
HP:0012647	Abnormal inflammatory response	1186	CLCN7	ORPHA:667
HP:0012647	Abnormal inflammatory response	29887	SNX10	ORPHA:667
HP:0012647	Abnormal inflammatory response	8600	TNFSF11	ORPHA:667
HP:0012647	Abnormal inflammatory response	11011	TLK2	OMIM:618050
HP:0012647	Abnormal inflammatory response	641	BLM	ORPHA:125
HP:0012647	Abnormal inflammatory response	4125	MAN2B1	ORPHA:309282
HP:0012647	Abnormal inflammatory response	5896	RAG1	OMIM:601457
HP:0012647	Abnormal inflammatory response	5897	RAG2	OMIM:601457
HP:0012647	Abnormal inflammatory response	23495	TNFRSF13B	ORPHA:1572
HP:0012647	Abnormal inflammatory response	4790	NFKB1	ORPHA:1572
HP:0012647	Abnormal inflammatory response	4791	NFKB2	ORPHA:1572
HP:0012647	Abnormal inflammatory response	115650	TNFRSF13C	ORPHA:1572
HP:0012647	Abnormal inflammatory response	1380	CR2	ORPHA:1572
HP:0012647	Abnormal inflammatory response	8742	TNFSF12	ORPHA:1572
HP:0012647	Abnormal inflammatory response	930	CD19	ORPHA:1572
HP:0012647	Abnormal inflammatory response	29851	ICOS	ORPHA:1572
HP:0012647	Abnormal inflammatory response	931	MS4A1	ORPHA:1572
HP:0012647	Abnormal inflammatory response	975	CD81	ORPHA:1572
HP:0012647	Abnormal inflammatory response	359948	IRF2BP2	ORPHA:1572
HP:0012647	Abnormal inflammatory response	2033	EP300	ORPHA:353284
HP:0012647	Abnormal inflammatory response	165918	RNF168	ORPHA:420741
HP:0012647	Abnormal inflammatory response	339829	CCDC39	OMIM:613807
HP:0012647	Abnormal inflammatory response	3590	IL11RA	OMIM:614188
HP:0012647	Abnormal inflammatory response	652	BMP4	ORPHA:828
HP:0012647	Abnormal inflammatory response	7461	CLIP2	ORPHA:904
HP:0012647	Abnormal inflammatory response	84277	DNAJC30	ORPHA:904
HP:0012647	Abnormal inflammatory response	8468	FKBP6	ORPHA:904
HP:0012647	Abnormal inflammatory response	5982	RFC2	ORPHA:904
HP:0012647	Abnormal inflammatory response	2969	GTF2I	ORPHA:904
HP:0012647	Abnormal inflammatory response	3984	LIMK1	ORPHA:904
HP:0012647	Abnormal inflammatory response	9569	GTF2IRD1	ORPHA:904
HP:0012647	Abnormal inflammatory response	155382	VPS37D	ORPHA:904
HP:0012647	Abnormal inflammatory response	155368	METTL27	ORPHA:904
HP:0012647	Abnormal inflammatory response	114049	BUD23	ORPHA:904
HP:0012647	Abnormal inflammatory response	7458	EIF4H	ORPHA:904
HP:0012647	Abnormal inflammatory response	84163	GTF2IRD2	ORPHA:904
HP:0012647	Abnormal inflammatory response	26608	TBL2	ORPHA:904
HP:0012647	Abnormal inflammatory response	135886	TMEM270	ORPHA:904
HP:0012647	Abnormal inflammatory response	9031	BAZ1B	ORPHA:904
HP:0012647	Abnormal inflammatory response	10297	APC2	ORPHA:821
HP:0012647	Abnormal inflammatory response	4487	MSX1	ORPHA:199302
HP:0012647	Abnormal inflammatory response	5818	NECTIN1	ORPHA:199302
HP:0012647	Abnormal inflammatory response	3664	IRF6	ORPHA:199302
HP:0012647	Abnormal inflammatory response	6872	TAF1	OMIM:300966
HP:0012647	Abnormal inflammatory response	6872	TAF1	ORPHA:480907
HP:0012647	Abnormal inflammatory response	29123	ANKRD11	ORPHA:261250
HP:0012647	Abnormal inflammatory response	8085	KMT2D	ORPHA:2322
HP:0012647	Abnormal inflammatory response	7403	KDM6A	ORPHA:2322
HP:0012647	Abnormal inflammatory response	81858	SHARPIN	OMIM:620795
HP:0012647	Abnormal inflammatory response	10743	RAI1	OMIM:182290
HP:0012647	Abnormal inflammatory response	23483	TGDS	ORPHA:1388
HP:0012647	Abnormal inflammatory response	7994	KAT6A	OMIM:616268
HP:0012647	Abnormal inflammatory response	64359	NXN	ORPHA:1507
HP:0012647	Abnormal inflammatory response	4920	ROR2	ORPHA:1507
HP:0012647	Abnormal inflammatory response	1312	COMT	ORPHA:567
HP:0012647	Abnormal inflammatory response	221037	JMJD1C	ORPHA:567
HP:0012647	Abnormal inflammatory response	2812	GP1BB	ORPHA:567
HP:0012647	Abnormal inflammatory response	6239	RREB1	ORPHA:567
HP:0012647	Abnormal inflammatory response	7290	HIRA	ORPHA:567
HP:0012647	Abnormal inflammatory response	9632	SEC24C	ORPHA:567
HP:0012647	Abnormal inflammatory response	7353	UFD1	ORPHA:567
HP:0012647	Abnormal inflammatory response	421	ARVCF	ORPHA:567
HP:0012647	Abnormal inflammatory response	8604	SLC25A12	OMIM:612949
HP:0012647	Abnormal inflammatory response	9496	TBX4	ORPHA:261279
HP:0012647	Abnormal inflammatory response	10815	CPLX1	ORPHA:280
HP:0012647	Abnormal inflammatory response	54872	PIGG	ORPHA:280
HP:0012647	Abnormal inflammatory response	7469	NELFA	ORPHA:280
HP:0012647	Abnormal inflammatory response	1487	CTBP1	ORPHA:280
HP:0012647	Abnormal inflammatory response	3954	LETM1	ORPHA:280
HP:0012647	Abnormal inflammatory response	7468	NSD2	ORPHA:280
HP:0012647	Abnormal inflammatory response	7161	TP73	OMIM:619466
HP:0012647	Abnormal inflammatory response	146206	CARMIL2	OMIM:618131
HP:0012647	Abnormal inflammatory response	2783	GNB2	OMIM:619503
HP:0012647	Abnormal inflammatory response	175	AGA	ORPHA:93
HP:0012647	Abnormal inflammatory response	204	AK2	ORPHA:33355
HP:0012647	Abnormal inflammatory response	151516	ASPRV1	ORPHA:313
HP:0012647	Abnormal inflammatory response	242	ALOX12B	ORPHA:313
HP:0012647	Abnormal inflammatory response	126410	CYP4F22	ORPHA:313
HP:0012647	Abnormal inflammatory response	6820	SULT2B1	ORPHA:313
HP:0012647	Abnormal inflammatory response	26154	ABCA12	ORPHA:313
HP:0012647	Abnormal inflammatory response	643418	LIPN	ORPHA:313
HP:0012647	Abnormal inflammatory response	59344	ALOXE3	ORPHA:313
HP:0012647	Abnormal inflammatory response	348938	NIPAL4	ORPHA:313
HP:0012647	Abnormal inflammatory response	121214	SDR9C7	ORPHA:313
HP:0012647	Abnormal inflammatory response	7051	TGM1	ORPHA:313
HP:0012647	Abnormal inflammatory response	3071	NCKAP1L	OMIM:618982
HP:0012647	Abnormal inflammatory response	8367	H4C5	OMIM:619950
HP:0012647	Abnormal inflammatory response	2070	EYA4	ORPHA:217622
HP:0012647	Abnormal inflammatory response	64682	ANAPC1	OMIM:618625
HP:0012647	Abnormal inflammatory response	9839	ZEB2	OMIM:235730
HP:0012647	Abnormal inflammatory response	9839	ZEB2	ORPHA:261552
HP:0012647	Abnormal inflammatory response	9839	ZEB2	ORPHA:261537
HP:0012647	Abnormal inflammatory response	80232	WDR26	ORPHA:513456
HP:0012647	Abnormal inflammatory response	80232	WDR26	OMIM:617616
HP:0012647	Abnormal inflammatory response	9578	CDC42BPB	OMIM:619841
HP:0012647	Abnormal inflammatory response	57589	RIC1	ORPHA:199306
HP:0012647	Abnormal inflammatory response	1739	DLG1	ORPHA:199306
HP:0012647	Abnormal inflammatory response	999	CDH1	ORPHA:199306
HP:0012647	Abnormal inflammatory response	5156	PDGFRA	ORPHA:199306
HP:0012647	Abnormal inflammatory response	1748	DLX4	ORPHA:199306
HP:0012647	Abnormal inflammatory response	22837	COBLL1	ORPHA:199306
HP:0012647	Abnormal inflammatory response	54848	ARHGEF38	ORPHA:199306
HP:0012647	Abnormal inflammatory response	9411	ARHGAP29	ORPHA:199306
HP:0012647	Abnormal inflammatory response	51111	KMT5B	OMIM:617788
HP:0012647	Abnormal inflammatory response	2314	FLII	ORPHA:819
HP:0012647	Abnormal inflammatory response	23096	IQSEC2	ORPHA:819
HP:0012647	Abnormal inflammatory response	10522	DEAF1	ORPHA:819
HP:0012647	Abnormal inflammatory response	144568	A2ML1	OMIM:166760
HP:0012647	Abnormal inflammatory response	1301	COL11A1	OMIM:154780
HP:0012647	Abnormal inflammatory response	56992	KIF15	ORPHA:261323
HP:0012647	Abnormal inflammatory response	7314	UBB	ORPHA:155878
HP:0012647	Abnormal inflammatory response	7314	UBB	ORPHA:99772
HP:0012647	Abnormal inflammatory response	57822	GRHL3	ORPHA:155878
HP:0012647	Abnormal inflammatory response	57822	GRHL3	ORPHA:99772
HP:0012647	Abnormal inflammatory response	284058	KANSL1	ORPHA:363958
HP:0012647	Abnormal inflammatory response	284058	KANSL1	ORPHA:363965
HP:0012647	Abnormal inflammatory response	25885	POLR1A	OMIM:616462
HP:0012647	Abnormal inflammatory response	80204	FBXO11	OMIM:618089
HP:0012647	Abnormal inflammatory response	6786	STIM1	OMIM:612783
HP:0012647	Abnormal inflammatory response	3572	IL6ST	OMIM:618523
HP:0012647	Abnormal inflammatory response	1717	DHCR7	OMIM:270400
HP:0012647	Abnormal inflammatory response	28755	TRAC	OMIM:615387
HP:0012647	Abnormal inflammatory response	6885	MAP3K7	OMIM:157800
HP:0012647	Abnormal inflammatory response	83879	CDCA7	OMIM:616910
HP:0012647	Abnormal inflammatory response	3425	IDUA	OMIM:607014
HP:0012647	Abnormal inflammatory response	26834	RNU4-2	OMIM:620851
HP:0012647	Abnormal inflammatory response	54888	NSUN2	ORPHA:235
HP:0012647	Abnormal inflammatory response	56006	SMG9	OMIM:619995
HP:0012647	Abnormal inflammatory response	8260	NAA10	OMIM:309800
HP:0012647	Abnormal inflammatory response	8260	NAA10	OMIM:300855
HP:0012647	Abnormal inflammatory response	23126	POGZ	OMIM:616364
HP:0012647	Abnormal inflammatory response	6135	RPL11	OMIM:612562
HP:0012647	Abnormal inflammatory response	8364	H4C3	OMIM:619758
HP:0012647	Abnormal inflammatory response	27086	FOXP1	ORPHA:391372
HP:0012647	Abnormal inflammatory response	5594	MAPK1	OMIM:619087
HP:0012647	Abnormal inflammatory response	5971	RELB	OMIM:617585
HP:0012647	Abnormal inflammatory response	113179	ADAT3	OMIM:615286
HP:0012647	Abnormal inflammatory response	113179	ADAT3	ORPHA:363528
HP:0012647	Abnormal inflammatory response	917	CD3G	OMIM:615607
HP:0012647	Abnormal inflammatory response	51085	MLXIPL	OMIM:194050
HP:0012647	Abnormal inflammatory response	3373	HYAL1	OMIM:601492
HP:0012647	Abnormal inflammatory response	2535	FZD2	OMIM:164745
HP:0012647	Abnormal inflammatory response	7030	TFE3	OMIM:301066
HP:0012647	Abnormal inflammatory response	3978	LIG1	OMIM:619774
HP:0012647	Abnormal inflammatory response	3423	IDS	OMIM:309900
HP:0012647	Abnormal inflammatory response	6603	SMARCD2	OMIM:617475
HP:0012647	Abnormal inflammatory response	84522	JAGN1	OMIM:616022
HP:0012647	Abnormal inflammatory response	3930	LBR	OMIM:169400
HP:0012647	Abnormal inflammatory response	51311	TLR8	OMIM:301078
HP:0012647	Abnormal inflammatory response	2742	GLRA2	OMIM:301076
HP:0012647	Abnormal inflammatory response	55023	PHIP	ORPHA:589905
HP:0012647	Abnormal inflammatory response	29072	SETD2	OMIM:616831
HP:0012647	Abnormal inflammatory response	7068	THRB	ORPHA:566243
HP:0012647	Abnormal inflammatory response	2316	FLNA	OMIM:309350
HP:0012647	Abnormal inflammatory response	1642	DDB1	OMIM:619426
HP:0012647	Abnormal inflammatory response	5908	RAP1B	OMIM:620654
HP:0012647	Abnormal inflammatory response	388015	RTL1	ORPHA:254531
HP:0012647	Abnormal inflammatory response	388015	RTL1	ORPHA:96184
HP:0012647	Abnormal inflammatory response	8788	DLK1	ORPHA:254531
HP:0012647	Abnormal inflammatory response	8788	DLK1	ORPHA:96184
HP:0012647	Abnormal inflammatory response	55384	MEG3	ORPHA:254531
HP:0012647	Abnormal inflammatory response	55384	MEG3	ORPHA:96184
HP:0012647	Abnormal inflammatory response	100151683	RNU4ATAC	ORPHA:353298
HP:0012647	Abnormal inflammatory response	100151683	RNU4ATAC	OMIM:616651
HP:0012647	Abnormal inflammatory response	5575	PRKAR1B	OMIM:619680
HP:0012647	Abnormal inflammatory response	10847	SRCAP	OMIM:136140
HP:0012647	Abnormal inflammatory response	11151	CORO1A	OMIM:615401
HP:0012647	Abnormal inflammatory response	868	CBLB	OMIM:620430
HP:0012647	Abnormal inflammatory response	4297	KMT2A	OMIM:605130
HP:0012647	Abnormal inflammatory response	57551	TAOK1	OMIM:619575
HP:0012647	Abnormal inflammatory response	3643	INSR	OMIM:246200
HP:0012647	Abnormal inflammatory response	713	C1QB	OMIM:620321
HP:0012647	Abnormal inflammatory response	6045	RNF2	OMIM:619460
HP:0012647	Abnormal inflammatory response	1280	COL2A1	OMIM:156550
HP:0012647	Abnormal inflammatory response	1053	CEBPE	OMIM:245480
HP:0012647	Abnormal inflammatory response	5718	PSMD12	ORPHA:529962
HP:0012647	Abnormal inflammatory response	2186	BPTF	ORPHA:529962
HP:0012647	Abnormal inflammatory response	1822	ATN1	OMIM:618494
HP:0012647	Abnormal inflammatory response	3560	IL2RB	OMIM:618495
HP:0012647	Abnormal inflammatory response	91039	DPP9	OMIM:620331
HP:0012647	Abnormal inflammatory response	6874	TAF4	OMIM:620450
HP:0012647	Abnormal inflammatory response	164781	DAW1	OMIM:620570
HP:0012647	Abnormal inflammatory response	57003	CCDC47	OMIM:618268
HP:0012647	Abnormal inflammatory response	5977	DPF2	OMIM:618027
HP:0012647	Abnormal inflammatory response	1859	DYRK1A	OMIM:614104
HP:0012647	Abnormal inflammatory response	55329	MNS1	OMIM:618948
HP:0012647	Abnormal inflammatory response	940	CD28	OMIM:620901
HP:0012647	Abnormal inflammatory response	920	CD4	OMIM:619238
HP:0012647	Abnormal inflammatory response	5336	PLCG2	OMIM:614468
HP:0012647	Abnormal inflammatory response	3570	IL6R	OMIM:618944
HP:0012647	Abnormal inflammatory response	23112	TNRC6B	OMIM:619243
HP:0012647	Abnormal inflammatory response	5294	PIK3CG	OMIM:619802
HP:0012647	Abnormal inflammatory response	2799	GNS	OMIM:252940
HP:0012647	Abnormal inflammatory response	10551	AGR2	OMIM:620233
HP:0012647	Abnormal inflammatory response	83844	USP26	OMIM:301101
HP:0012647	Abnormal inflammatory response	5879	RAC1	OMIM:617751
HP:0012647	Abnormal inflammatory response	5879	RAC1	ORPHA:500159
HP:0012647	Abnormal inflammatory response	341208	HEPHL1	OMIM:261990
HP:0012647	Abnormal inflammatory response	1794	DOCK2	OMIM:616433
HP:0012647	Abnormal inflammatory response	6736	SRY	ORPHA:1772
HP:0012647	Abnormal inflammatory response	5130	PCYT1A	OMIM:608940
HP:0012647	Abnormal inflammatory response	1643	DDB2	OMIM:278740
HP:0012647	Abnormal inflammatory response	1643	DDB2	ORPHA:910
HP:0012647	Abnormal inflammatory response	5080	PAX6	ORPHA:2334
HP:0012647	Abnormal inflammatory response	5080	PAX6	OMIM:148190
HP:0012647	Abnormal inflammatory response	22947	DUX4L1	ORPHA:269
HP:0012647	Abnormal inflammatory response	2483	FRG1	ORPHA:269
HP:0012647	Abnormal inflammatory response	23347	SMCHD1	ORPHA:269
HP:0012647	Abnormal inflammatory response	100288687	DUX4	ORPHA:269
HP:0012647	Abnormal inflammatory response	7507	XPA	OMIM:278700
HP:0012647	Abnormal inflammatory response	7507	XPA	ORPHA:910
HP:0012647	Abnormal inflammatory response	5429	POLH	OMIM:278750
HP:0012647	Abnormal inflammatory response	5429	POLH	ORPHA:90342
HP:0012647	Abnormal inflammatory response	6935	ZEB1	OMIM:613270
HP:0012647	Abnormal inflammatory response	5339	PLEC	OMIM:226670
HP:0012647	Abnormal inflammatory response	7508	XPC	OMIM:278720
HP:0012647	Abnormal inflammatory response	7508	XPC	ORPHA:910
HP:0012647	Abnormal inflammatory response	9244	CRLF1	OMIM:272430
HP:0012647	Abnormal inflammatory response	23476	BRD4	ORPHA:199
HP:0012647	Abnormal inflammatory response	9126	SMC3	ORPHA:199
HP:0012647	Abnormal inflammatory response	6878	TAF6	ORPHA:199
HP:0012647	Abnormal inflammatory response	55869	HDAC8	ORPHA:199
HP:0012647	Abnormal inflammatory response	5885	RAD21	ORPHA:199
HP:0012647	Abnormal inflammatory response	5980	REV3L	ORPHA:570
HP:0012647	Abnormal inflammatory response	23129	PLXND1	ORPHA:570
HP:0012647	Abnormal inflammatory response	6768	ST14	OMIM:602400
HP:0012647	Abnormal inflammatory response	23556	PIGN	ORPHA:280633
HP:0012647	Abnormal inflammatory response	5333	PLCD1	ORPHA:2387
HP:0012647	Abnormal inflammatory response	488	ATP2A2	ORPHA:218
HP:0012647	Abnormal inflammatory response	8675	STX16	ORPHA:94089
HP:0012647	Abnormal inflammatory response	1161	ERCC8	ORPHA:90321
HP:0012647	Abnormal inflammatory response	1161	ERCC8	ORPHA:90322
HP:0012647	Abnormal inflammatory response	2067	ERCC1	ORPHA:90322
HP:0012647	Abnormal inflammatory response	7086	TKT	ORPHA:488618
HP:0012647	Abnormal inflammatory response	7037	TFRC	OMIM:616740
HP:0012647	Abnormal inflammatory response	2077	ERF	ORPHA:207
HP:0012647	Abnormal inflammatory response	5075	PAX1	OMIM:615560
HP:0012647	Abnormal inflammatory response	7390	UROS	OMIM:263700
HP:0012647	Abnormal inflammatory response	79722	ANKRD55	ORPHA:85410
HP:0012647	Abnormal inflammatory response	79722	ANKRD55	ORPHA:85408
HP:0012647	Abnormal inflammatory response	5771	PTPN2	ORPHA:85410
HP:0012647	Abnormal inflammatory response	5771	PTPN2	ORPHA:85408
HP:0012647	Abnormal inflammatory response	726	CAPN5	OMIM:193235
HP:0012647	Abnormal inflammatory response	220202	ATOH7	OMIM:221900
HP:0012647	Abnormal inflammatory response	84181	CHD6	ORPHA:2108
HP:0012647	Abnormal inflammatory response	1281	COL3A1	OMIM:130050
HP:0012647	Abnormal inflammatory response	1281	COL3A1	ORPHA:286
HP:0012647	Abnormal inflammatory response	3689	ITGB2	OMIM:116920
HP:0012647	Abnormal inflammatory response	716	C1S	ORPHA:75392
HP:0012647	Abnormal inflammatory response	716	C1S	OMIM:617174
HP:0012647	Abnormal inflammatory response	715	C1R	ORPHA:75392
HP:0012647	Abnormal inflammatory response	715	C1R	OMIM:130080
HP:0012647	Abnormal inflammatory response	55612	FERMT1	ORPHA:2908
HP:0012647	Abnormal inflammatory response	55612	FERMT1	OMIM:173650
HP:0012647	Abnormal inflammatory response	165	AEBP1	OMIM:618000
HP:0012647	Abnormal inflammatory response	165	AEBP1	ORPHA:536532
HP:0012647	Abnormal inflammatory response	2248	FGF3	ORPHA:2791
HP:0012647	Abnormal inflammatory response	92344	GORAB	OMIM:231070
HP:0012647	Abnormal inflammatory response	8546	AP3B1	OMIM:608233
HP:0012647	Abnormal inflammatory response	55343	SLC35C1	OMIM:266265
HP:0012647	Abnormal inflammatory response	1130	LYST	ORPHA:167
HP:0012647	Abnormal inflammatory response	1130	LYST	OMIM:214500
HP:0012647	Abnormal inflammatory response	6728	SRP19	ORPHA:486
HP:0012647	Abnormal inflammatory response	2672	GFI1	ORPHA:486
HP:0012647	Abnormal inflammatory response	81570	CLPB	ORPHA:486
HP:0012647	Abnormal inflammatory response	375056	MIA3	OMIM:619269
HP:0012647	Abnormal inflammatory response	80169	CTC1	ORPHA:1775
HP:0012647	Abnormal inflammatory response	26277	TINF2	ORPHA:1775
HP:0012647	Abnormal inflammatory response	55651	NHP2	ORPHA:1775
HP:0012647	Abnormal inflammatory response	79650	USB1	ORPHA:1775
HP:0012647	Abnormal inflammatory response	55135	WRAP53	ORPHA:1775
HP:0012647	Abnormal inflammatory response	51750	RTEL1	ORPHA:1775
HP:0012647	Abnormal inflammatory response	4869	NPM1	ORPHA:1775
HP:0012647	Abnormal inflammatory response	7012	TERC	ORPHA:1775
HP:0012647	Abnormal inflammatory response	55505	NOP10	ORPHA:1775
HP:0012647	Abnormal inflammatory response	5073	PARN	ORPHA:1775
HP:0012647	Abnormal inflammatory response	7015	TERT	ORPHA:1775
HP:0012647	Abnormal inflammatory response	1736	DKC1	ORPHA:1775
HP:0012647	Abnormal inflammatory response	7298	TYMS	ORPHA:1775
HP:0012647	Abnormal inflammatory response	4853	NOTCH2	ORPHA:955
HP:0012647	Abnormal inflammatory response	4952	OCRL	ORPHA:534
HP:0012647	Abnormal inflammatory response	2542	SLC37A4	ORPHA:79259
HP:0012647	Abnormal inflammatory response	1075	CTSC	ORPHA:678
HP:0012647	Abnormal inflammatory response	54345	SOX18	OMIM:137940
HP:0012647	Abnormal inflammatory response	84823	LMNB2	OMIM:608709
HP:0012647	Abnormal inflammatory response	712	C1QA	OMIM:613652
HP:0012647	Abnormal inflammatory response	8526	DGKE	OMIM:615008
HP:0012647	Abnormal inflammatory response	6909	TBX2	OMIM:618223
HP:0012647	Abnormal inflammatory response	27022	FOXD3	OMIM:607836
HP:0012647	Abnormal inflammatory response	23040	MYT1L	ORPHA:647799
HP:0012647	Abnormal inflammatory response	10483	SEC23B	OMIM:616858
HP:0012647	Abnormal inflammatory response	1188	CLCNKB	ORPHA:358
HP:0012647	Abnormal inflammatory response	6559	SLC12A3	ORPHA:358
HP:0012647	Abnormal inflammatory response	8036	SHOC2	OMIM:607721
HP:0012647	Abnormal inflammatory response	2235	FECH	OMIM:177000
HP:0012647	Abnormal inflammatory response	2235	FECH	ORPHA:79278
HP:0012647	Abnormal inflammatory response	26960	NBEA	OMIM:619157
HP:0012647	Abnormal inflammatory response	6016	RIT1	OMIM:615355
HP:0012647	Abnormal inflammatory response	9759	HDAC4	ORPHA:1001
HP:0012647	Abnormal inflammatory response	9759	HDAC4	OMIM:600430
HP:0012647	Abnormal inflammatory response	57122	NUP107	OMIM:618348
HP:0012647	Abnormal inflammatory response	5604	MAP2K1	ORPHA:389
HP:0012647	Abnormal inflammatory response	4893	NRAS	ORPHA:389
HP:0012647	Abnormal inflammatory response	673	BRAF	ORPHA:389
HP:0012647	Abnormal inflammatory response	3021	H3-3B	OMIM:619721
HP:0012647	Abnormal inflammatory response	79644	SRD5A3	OMIM:612379
HP:0012647	Abnormal inflammatory response	5053	PAH	OMIM:261600
HP:0012647	Abnormal inflammatory response	5053	PAH	ORPHA:79254
HP:0012647	Abnormal inflammatory response	9837	GINS1	OMIM:617827
HP:0012647	Abnormal inflammatory response	7175	TPR	OMIM:620393
HP:0012647	Abnormal inflammatory response	16	AARS1	OMIM:619691
HP:0012647	Abnormal inflammatory response	16	AARS1	ORPHA:33364
HP:0012647	Abnormal inflammatory response	1896	EDA	OMIM:305100
HP:0012647	Abnormal inflammatory response	7780	SLC30A2	OMIM:608118
HP:0012647	Abnormal inflammatory response	51360	MBTPS2	ORPHA:2273
HP:0012647	Abnormal inflammatory response	51360	MBTPS2	OMIM:308205
HP:0012647	Abnormal inflammatory response	54496	PRMT7	OMIM:617157
HP:0012647	Abnormal inflammatory response	54496	PRMT7	ORPHA:464288
HP:0012647	Abnormal inflammatory response	816	CAMK2B	OMIM:617799
HP:0012647	Abnormal inflammatory response	686	BTD	ORPHA:79241
HP:0012647	Abnormal inflammatory response	3141	HLCS	ORPHA:79242
HP:0012647	Abnormal inflammatory response	6821	SUOX	OMIM:272300
HP:0012647	Abnormal inflammatory response	4478	MSN	OMIM:300988
HP:0012647	Abnormal inflammatory response	26053	AUTS2	ORPHA:352490
HP:0012647	Abnormal inflammatory response	51428	DDX41	OMIM:616871
HP:0012647	Abnormal inflammatory response	93627	TBCK	ORPHA:488632
HP:0012647	Abnormal inflammatory response	267010	RNU12	ORPHA:85199
HP:0012647	Abnormal inflammatory response	1474	CST6	OMIM:618535
HP:0012647	Abnormal inflammatory response	10043	TOM1	OMIM:619510
HP:0012647	Abnormal inflammatory response	10526	IPO8	OMIM:619472
HP:0012647	Abnormal inflammatory response	126695	KDF1	OMIM:617337
HP:0012647	Abnormal inflammatory response	126695	KDF1	ORPHA:1810
HP:0012647	Abnormal inflammatory response	25914	RTTN	ORPHA:468631
HP:0012647	Abnormal inflammatory response	2312	FLG	OMIM:146700
HP:0012647	Abnormal inflammatory response	79092	CARD14	ORPHA:2897
HP:0012647	Abnormal inflammatory response	283209	PGM2L1	OMIM:620191
HP:0012647	Abnormal inflammatory response	11005	SPINK5	OMIM:256500
HP:0012647	Abnormal inflammatory response	11005	SPINK5	ORPHA:634
HP:0012647	Abnormal inflammatory response	55072	RNF31	OMIM:620632
HP:0012647	Abnormal inflammatory response	23387	SIK3	OMIM:618162
HP:0012647	Abnormal inflammatory response	2678	GGT1	OMIM:231950
HP:0012647	Abnormal inflammatory response	203190	LGI3	OMIM:620007
HP:0012647	Abnormal inflammatory response	4733	DRG1	OMIM:620641
HP:0012647	Abnormal inflammatory response	404672	GTF2H5	ORPHA:33364
HP:0012647	Abnormal inflammatory response	833	CARS1	ORPHA:33364
HP:0012647	Abnormal inflammatory response	2068	ERCC2	ORPHA:33364
HP:0012647	Abnormal inflammatory response	7737	RNF113A	ORPHA:33364
HP:0012647	Abnormal inflammatory response	136647	MPLKIP	ORPHA:33364
HP:0012647	Abnormal inflammatory response	6897	TARS1	ORPHA:33364
HP:0012647	Abnormal inflammatory response	2071	ERCC3	ORPHA:33364
HP:0012647	Abnormal inflammatory response	2961	GTF2E2	ORPHA:33364
HP:0012647	Abnormal inflammatory response	9526	MPDU1	ORPHA:79323
HP:0012647	Abnormal inflammatory response	9333	TGM5	ORPHA:263534
HP:0012647	Abnormal inflammatory response	1475	CSTA	ORPHA:263534
HP:0012647	Abnormal inflammatory response	55181	SMG8	OMIM:619268
HP:0012647	Abnormal inflammatory response	56160	NSMCE3	OMIM:617241
HP:0012647	Abnormal inflammatory response	5426	POLE	OMIM:618336
HP:0012647	Abnormal inflammatory response	8216	LZTR1	OMIM:605275
HP:0012647	Abnormal inflammatory response	7133	TNFRSF1B	ORPHA:2584
HP:0012647	Abnormal inflammatory response	7189	TRAF6	ORPHA:1810
HP:0012647	Abnormal inflammatory response	128178	EDARADD	ORPHA:1810
HP:0012647	Abnormal inflammatory response	10913	EDAR	ORPHA:1810
HP:0012647	Abnormal inflammatory response	5551	PRF1	ORPHA:540
HP:0012647	Abnormal inflammatory response	5551	PRF1	OMIM:603553
HP:0012647	Abnormal inflammatory response	8676	STX11	ORPHA:540
HP:0012647	Abnormal inflammatory response	8676	STX11	OMIM:603552
HP:0012647	Abnormal inflammatory response	201294	UNC13D	ORPHA:540
HP:0012647	Abnormal inflammatory response	58484	NLRC4	OMIM:616050
HP:0012647	Abnormal inflammatory response	5699	PSMB10	OMIM:619175
HP:0012647	Abnormal inflammatory response	7010	TEK	ORPHA:1059
HP:0012647	Abnormal inflammatory response	23152	CIC	OMIM:617600
HP:0012647	Abnormal inflammatory response	2697	GJA1	ORPHA:317
HP:0012647	Abnormal inflammatory response	2707	GJB3	ORPHA:317
HP:0012647	Abnormal inflammatory response	2531	KDSR	ORPHA:317
HP:0012647	Abnormal inflammatory response	127534	GJB4	ORPHA:317
HP:0012647	Abnormal inflammatory response	84701	COX4I2	OMIM:612714
HP:0012647	Abnormal inflammatory response	2243	FGA	OMIM:105200
HP:0012647	Abnormal inflammatory response	8647	ABCB11	ORPHA:69665
HP:0012647	Abnormal inflammatory response	9971	NR1H4	ORPHA:69665
HP:0012647	Abnormal inflammatory response	5788	PTPRC	OMIM:619924
HP:0012647	Abnormal inflammatory response	2073	ERCC5	ORPHA:220295
HP:0012647	Abnormal inflammatory response	2072	ERCC4	ORPHA:220295
HP:0012647	Abnormal inflammatory response	55739	NAXD	OMIM:618321
HP:0012647	Abnormal inflammatory response	51371	POMP	OMIM:618048
HP:0012647	Abnormal inflammatory response	3937	LCP2	OMIM:619374
HP:0012647	Abnormal inflammatory response	6389	SDHA	ORPHA:44890
HP:0012647	Abnormal inflammatory response	6390	SDHB	ORPHA:44890
HP:0012647	Abnormal inflammatory response	6391	SDHC	ORPHA:44890
HP:0012647	Abnormal inflammatory response	3815	KIT	ORPHA:44890
HP:0012647	Abnormal inflammatory response	340024	SLC6A19	ORPHA:2116
HP:0012647	Abnormal inflammatory response	57393	CLTRN	ORPHA:2116
HP:0012647	Abnormal inflammatory response	3458	IFNG	OMIM:618963
HP:0012647	Abnormal inflammatory response	1291	COL6A1	OMIM:158810
HP:0012647	Abnormal inflammatory response	9181	ARHGEF2	OMIM:617523
HP:0012647	Abnormal inflammatory response	56916	SMARCAD1	ORPHA:1658
HP:0012647	Abnormal inflammatory response	3858	KRT10	ORPHA:312
HP:0012647	Abnormal inflammatory response	3858	KRT10	OMIM:620150
HP:0012647	Abnormal inflammatory response	3858	KRT10	OMIM:620707
HP:0012647	Abnormal inflammatory response	3858	KRT10	OMIM:609165
HP:0012647	Abnormal inflammatory response	3848	KRT1	ORPHA:312
HP:0012647	Abnormal inflammatory response	3848	KRT1	OMIM:113800
HP:0012647	Abnormal inflammatory response	11012	KLK11	OMIM:620507
HP:0012647	Abnormal inflammatory response	1041	CDSN	OMIM:270300
HP:0012647	Abnormal inflammatory response	10999	SLC27A4	OMIM:608649
HP:0012647	Abnormal inflammatory response	2706	GJB2	OMIM:602540
HP:0012647	Abnormal inflammatory response	162	AP1B1	OMIM:242150
HP:0012647	Abnormal inflammatory response	130340	AP1S3	ORPHA:247353
HP:0012647	Abnormal inflammatory response	6785	ELOVL4	OMIM:133190
HP:0012647	Abnormal inflammatory response	57609	DIP2B	OMIM:136630
HP:0012647	Abnormal inflammatory response	4047	LSS	OMIM:618840
HP:0012647	Abnormal inflammatory response	6868	ADAM17	OMIM:614328
HP:0012647	Abnormal inflammatory response	10682	EBP	OMIM:302960
HP:0012647	Abnormal inflammatory response	10682	EBP	ORPHA:35173
HP:0012647	Abnormal inflammatory response	204219	CERS3	OMIM:615023
HP:0012647	Abnormal inflammatory response	204219	CERS3	ORPHA:79394
HP:0012647	Abnormal inflammatory response	285848	PNPLA1	OMIM:615024
HP:0012647	Abnormal inflammatory response	285848	PNPLA1	ORPHA:79394
HP:0012647	Abnormal inflammatory response	1828	DSG1	OMIM:615508
HP:0012647	Abnormal inflammatory response	2615	LRRC32	OMIM:619074
HP:0012647	Abnormal inflammatory response	388698	FLG2	OMIM:618084
HP:0012647	Abnormal inflammatory response	3735	KARS1	ORPHA:3240
HP:0012647	Abnormal inflammatory response	91754	NEK9	OMIM:614262
HP:0012647	Abnormal inflammatory response	121391	KRT74	ORPHA:90368
HP:0012647	Abnormal inflammatory response	6573	SLC19A1	OMIM:620603
HP:0012647	Abnormal inflammatory response	22800	RRAS2	OMIM:618624
HP:0012647	Abnormal inflammatory response	5498	PPOX	OMIM:620483
HP:0012647	Abnormal inflammatory response	10060	ABCC9	OMIM:619719
HP:0012647	Abnormal inflammatory response	23102	TBC1D2B	ORPHA:397973
HP:0012647	Abnormal inflammatory response	3313	HSPA9	OMIM:616854
HP:0012647	Abnormal inflammatory response	22880	MORC2	ORPHA:466768
HP:0012647	Abnormal inflammatory response	79755	ZNF750	OMIM:610227
HP:0012647	Abnormal inflammatory response	64087	MCCC2	OMIM:210210
HP:0012647	Abnormal inflammatory response	9939	RBM8A	OMIM:274000
HP:0012647	Abnormal inflammatory response	9508	ADAMTS3	ORPHA:2136
HP:0012647	Abnormal inflammatory response	147372	CCBE1	ORPHA:2136
HP:0012647	Abnormal inflammatory response	147372	CCBE1	OMIM:235510
HP:0012647	Abnormal inflammatory response	79633	FAT4	ORPHA:2136
HP:0012647	Abnormal inflammatory response	2324	FLT4	ORPHA:79452
HP:0012647	Abnormal inflammatory response	285	ANGPT2	ORPHA:79452
HP:0012647	Abnormal inflammatory response	57165	GJC2	ORPHA:79452
HP:0012647	Abnormal inflammatory response	374393	FAM111B	OMIM:615704
HP:0012647	Abnormal inflammatory response	9563	H6PD	OMIM:604931
HP:0012647	Abnormal inflammatory response	1893	ECM1	ORPHA:530
HP:0012647	Abnormal inflammatory response	84196	USP48	ORPHA:96253
HP:0012647	Abnormal inflammatory response	7157	TP53	ORPHA:96253
HP:0012647	Abnormal inflammatory response	9101	USP8	ORPHA:96253
HP:0012647	Abnormal inflammatory response	64072	CDH23	ORPHA:96253
HP:0012647	Abnormal inflammatory response	2908	NR3C1	ORPHA:96253
HP:0012647	Abnormal inflammatory response	2908	NR3C1	ORPHA:786
HP:0012647	Abnormal inflammatory response	546	ATRX	ORPHA:96253
HP:0012647	Abnormal inflammatory response	5566	PRKACA	OMIM:615830
HP:0012647	Abnormal inflammatory response	54361	WNT4	ORPHA:247768
HP:0012647	Abnormal inflammatory response	54361	WNT4	OMIM:158330
HP:0012647	Abnormal inflammatory response	285590	SH3PXD2B	ORPHA:137834
HP:0012647	Abnormal inflammatory response	285590	SH3PXD2B	OMIM:249420
HP:0012647	Abnormal inflammatory response	3973	LHCGR	ORPHA:3000
HP:0012647	Abnormal inflammatory response	9060	PAPSS2	OMIM:612847
HP:0012647	Abnormal inflammatory response	83550	GPR101	ORPHA:963
HP:0012647	Abnormal inflammatory response	9049	AIP	ORPHA:963
HP:0012647	Abnormal inflammatory response	64131	XYLT1	ORPHA:370930
HP:0012647	Abnormal inflammatory response	2099	ESR1	ORPHA:785
HP:0012647	Abnormal inflammatory response	2099	ESR1	OMIM:615363
HP:0012647	Abnormal inflammatory response	79798	ARMC5	ORPHA:189427
HP:0012647	Abnormal inflammatory response	23028	KDM1A	ORPHA:189427
HP:0012647	Abnormal inflammatory response	4212	MEIS2	ORPHA:261190
HP:0012647	Abnormal inflammatory response	367	AR	ORPHA:99429
HP:0012647	Abnormal inflammatory response	1584	CYP11B1	ORPHA:90795
HP:0012647	Abnormal inflammatory response	2255	FGF10	ORPHA:2363
HP:0012647	Abnormal inflammatory response	6335	SCN9A	OMIM:133020
HP:0012647	Abnormal inflammatory response	2296	FOXC1	ORPHA:250923
HP:0012647	Abnormal inflammatory response	54765	TRIM44	ORPHA:250923
HP:0012647	Abnormal inflammatory response	55699	IARS2	OMIM:616007
HP:0012647	Abnormal inflammatory response	29926	GMPPA	ORPHA:869
HP:0012647	Abnormal inflammatory response	8086	AAAS	ORPHA:869
HP:0012647	Abnormal inflammatory response	2934	GSN	ORPHA:85448
HP:0012647	Abnormal inflammatory response	4081	MAB21L1	OMIM:618479
HP:0012647	Abnormal inflammatory response	4081	MAB21L1	ORPHA:495875
HP:0012647	Abnormal inflammatory response	5965	RECQL	OMIM:620370
HP:0012647	Abnormal inflammatory response	4547	MTTP	ORPHA:14
HP:0012647	Abnormal inflammatory response	4069	LYZ	OMIM:620658
HP:0012647	Abnormal inflammatory response	2200	FBN1	OMIM:616914
HP:0012647	Abnormal inflammatory response	10804	GJB6	ORPHA:477
HP:0012647	Abnormal inflammatory response	59335	PRDM12	OMIM:616488
HP:0012647	Abnormal inflammatory response	83706	FERMT3	OMIM:612840
HP:0012647	Abnormal inflammatory response	11322	TMC6	ORPHA:302
HP:0012647	Abnormal inflammatory response	3574	IL7	ORPHA:302
HP:0012647	Abnormal inflammatory response	147138	TMC8	ORPHA:302
HP:0012647	Abnormal inflammatory response	10519	CIB1	ORPHA:302
HP:0012647	Abnormal inflammatory response	113189	CHST14	OMIM:601776
HP:0012647	Abnormal inflammatory response	113189	CHST14	ORPHA:2953
HP:0012647	Abnormal inflammatory response	4780	NFE2L2	OMIM:617744
HP:0012647	Abnormal inflammatory response	29940	DSE	ORPHA:2953
HP:0012647	Abnormal inflammatory response	57591	MRTFA	OMIM:618847
HP:0012647	Abnormal inflammatory response	2303	FOXC2	ORPHA:33001
HP:0012647	Abnormal inflammatory response	2050	EPHB4	ORPHA:90186
HP:0012647	Abnormal inflammatory response	26258	BLOC1S6	OMIM:614171
HP:0012647	Abnormal inflammatory response	4153	MBL2	OMIM:614372
HP:0012647	Abnormal inflammatory response	3852	KRT5	ORPHA:79396
HP:0012647	Abnormal inflammatory response	3861	KRT14	ORPHA:79396
HP:0012647	Abnormal inflammatory response	6778	STAT6	OMIM:620532
HP:0012647	Abnormal inflammatory response	8883	NAE1	OMIM:620210
HP:0012647	Abnormal inflammatory response	8974	P4HA2	ORPHA:397
HP:0012647	Abnormal inflammatory response	4094	MAF	ORPHA:1272
HP:0012647	Abnormal inflammatory response	4094	MAF	OMIM:601088
HP:0012647	Abnormal inflammatory response	10216	PRG4	ORPHA:2848
HP:0012647	Abnormal inflammatory response	3039	HBA1	ORPHA:163596
HP:0012647	Abnormal inflammatory response	3040	HBA2	ORPHA:163596
HP:0012647	Abnormal inflammatory response	4594	MMUT	ORPHA:289916
HP:0012647	Abnormal inflammatory response	4594	MMUT	OMIM:251000
HP:0012647	Abnormal inflammatory response	4594	MMUT	ORPHA:79312
HP:0012647	Abnormal inflammatory response	875	CBS	ORPHA:394
HP:0012647	Abnormal inflammatory response	875	CBS	OMIM:236200
HP:0012647	Abnormal inflammatory response	9056	SLC7A7	ORPHA:470
HP:0012647	Abnormal inflammatory response	9056	SLC7A7	OMIM:222700
HP:0012647	Abnormal inflammatory response	593	BCKDHA	OMIM:248600
HP:0012647	Abnormal inflammatory response	540	ATP7B	ORPHA:905
HP:0012647	Abnormal inflammatory response	11330	CTRC	OMIM:167800
HP:0012647	Abnormal inflammatory response	5645	PRSS2	OMIM:167800
HP:0012647	Abnormal inflammatory response	5644	PRSS1	OMIM:167800
HP:0012647	Abnormal inflammatory response	6690	SPINK1	OMIM:167800
HP:0012647	Abnormal inflammatory response	79577	CDC73	ORPHA:143
HP:0012647	Abnormal inflammatory response	79577	CDC73	ORPHA:99880
HP:0012647	Abnormal inflammatory response	57104	PNPLA2	ORPHA:565612
HP:0012647	Abnormal inflammatory response	5244	ABCB4	ORPHA:69663
HP:0012647	Abnormal inflammatory response	5244	ABCB4	OMIM:600803
HP:0012647	Abnormal inflammatory response	4722	NDUFS3	OMIM:618230
HP:0012647	Abnormal inflammatory response	63924	CIDEC	ORPHA:435651
HP:0012647	Abnormal inflammatory response	50485	SMARCAL1	ORPHA:1830
HP:0012647	Abnormal inflammatory response	50940	PDE11A	OMIM:610475
HP:0012647	Abnormal inflammatory response	10165	SLC25A13	OMIM:603471
HP:0012647	Abnormal inflammatory response	10165	SLC25A13	ORPHA:247585
HP:0012647	Abnormal inflammatory response	4000	LMNA	ORPHA:280365
HP:0012647	Abnormal inflammatory response	4000	LMNA	ORPHA:79084
HP:0012647	Abnormal inflammatory response	4000	LMNA	OMIM:151660
HP:0012647	Abnormal inflammatory response	4000	LMNA	ORPHA:2348
HP:0012647	Abnormal inflammatory response	10320	IKZF1	ORPHA:36426
HP:0012647	Abnormal inflammatory response	72	ACTG2	OMIM:155310
HP:0012647	Abnormal inflammatory response	2859	GPR35	ORPHA:171
HP:0012647	Abnormal inflammatory response	10507	SEMA4D	ORPHA:171
HP:0012647	Abnormal inflammatory response	4485	MST1	ORPHA:171
HP:0012647	Abnormal inflammatory response	6925	TCF4	ORPHA:171
HP:0012647	Abnormal inflammatory response	326	AIRE	OMIM:240300
HP:0012647	Abnormal inflammatory response	10273	STUB1	ORPHA:412057
HP:0012647	Abnormal inflammatory response	133686	NADK2	ORPHA:431361
HP:0012647	Abnormal inflammatory response	2538	G6PC1	OMIM:232200
HP:0012647	Abnormal inflammatory response	26007	TKFC	OMIM:618805
HP:0012647	Abnormal inflammatory response	4358	MPV17	OMIM:256810
HP:0012647	Abnormal inflammatory response	5468	PPARG	ORPHA:79083
HP:0012647	Abnormal inflammatory response	5095	PCCA	OMIM:606054
HP:0012647	Abnormal inflammatory response	5096	PCCB	OMIM:606054
HP:0012647	Abnormal inflammatory response	5205	ATP8B1	OMIM:243300
HP:0012647	Abnormal inflammatory response	2778	GNAS	ORPHA:562
HP:0012647	Abnormal inflammatory response	1175	AP2S1	OMIM:600740
HP:0012647	Abnormal inflammatory response	9054	NFS1	OMIM:619386
HP:0012647	Abnormal inflammatory response	64788	LMF1	OMIM:246650
HP:0012647	Abnormal inflammatory response	344	APOC2	OMIM:207750
HP:0012647	Abnormal inflammatory response	846	CASR	OMIM:145980
HP:0012647	Abnormal inflammatory response	2767	GNA11	OMIM:145981
HP:0012647	Abnormal inflammatory response	7388	UQCRH	OMIM:620137
HP:0012647	Abnormal inflammatory response	78987	CRELD1	OMIM:620771
HP:0012647	Abnormal inflammatory response	338328	GPIHBP1	OMIM:615947
HP:0012647	Abnormal inflammatory response	2313	FLI1	ORPHA:370348
HP:0012647	Abnormal inflammatory response	90952	ESAM	OMIM:620371
HP:0012647	Abnormal inflammatory response	3155	HMGCL	ORPHA:20
HP:0012647	Abnormal inflammatory response	3712	IVD	ORPHA:33
HP:0012647	Abnormal inflammatory response	286053	NSMCE2	OMIM:617253
HP:0012647	Abnormal inflammatory response	26580	BSCL2	OMIM:269700
HP:0012647	Abnormal inflammatory response	4023	LPL	OMIM:238600
HP:0012647	Abnormal inflammatory response	348	APOE	ORPHA:412
HP:0012647	Abnormal inflammatory response	10555	AGPAT2	OMIM:608594
HP:0012647	Abnormal inflammatory response	22948	CCT5	OMIM:256840
HP:0012647	Abnormal inflammatory response	22948	CCT5	ORPHA:139578
HP:0012647	Abnormal inflammatory response	7879	RAB7A	OMIM:600882
HP:0012647	Abnormal inflammatory response	57680	CHD8	OMIM:615032
HP:0012647	Abnormal inflammatory response	5243	ABCB1	OMIM:612244
HP:0012647	Abnormal inflammatory response	3257	HPS1	OMIM:203300
HP:0012647	Abnormal inflammatory response	8737	RIPK1	OMIM:618108
HP:0012647	Abnormal inflammatory response	59067	IL21	OMIM:615767
HP:0012647	Abnormal inflammatory response	2165	F13B	ORPHA:331
HP:0012647	Abnormal inflammatory response	2162	F13A1	ORPHA:331
HP:0012647	Abnormal inflammatory response	2000	ELF4	OMIM:301074
HP:0012647	Abnormal inflammatory response	345611	IRGM	OMIM:612278
HP:0012647	Abnormal inflammatory response	64858	DCLRE1B	OMIM:620133
HP:0012647	Abnormal inflammatory response	2395	FXN	ORPHA:95
HP:0012647	Abnormal inflammatory response	57190	SELENON	ORPHA:97244
HP:0012647	Abnormal inflammatory response	58	ACTA1	ORPHA:97244
HP:0012647	Abnormal inflammatory response	23308	ICOSLG	OMIM:620825
HP:0012647	Abnormal inflammatory response	987	LRBA	OMIM:614700
HP:0012647	Abnormal inflammatory response	411	ARSB	OMIM:253200
HP:0012647	Abnormal inflammatory response	3909	LAMA3	ORPHA:79404
HP:0012647	Abnormal inflammatory response	3918	LAMC2	ORPHA:79404
HP:0012647	Abnormal inflammatory response	3914	LAMB3	ORPHA:79404
HP:0012647	Abnormal inflammatory response	6720	SREBF1	OMIM:158310
HP:0012647	Abnormal inflammatory response	10559	SLC35A1	ORPHA:238459
HP:0012647	Abnormal inflammatory response	3718	JAK3	OMIM:600802
HP:0012647	Abnormal inflammatory response	841	CASP8	OMIM:607271
HP:0012647	Abnormal inflammatory response	29927	SEC61A1	OMIM:620674
HP:0012647	Abnormal inflammatory response	5698	PSMB9	OMIM:620796
HP:0012647	Abnormal inflammatory response	2188	FANCF	OMIM:603467
HP:0012647	Abnormal inflammatory response	7535	ZAP70	OMIM:269840
HP:0012647	Abnormal inflammatory response	7535	ZAP70	ORPHA:911
HP:0012647	Abnormal inflammatory response	54	ACP5	OMIM:607944
HP:0012647	Abnormal inflammatory response	54	ACP5	ORPHA:1855
HP:0012647	Abnormal inflammatory response	6445	SGCG	OMIM:253700
HP:0012647	Abnormal inflammatory response	5277	PIGA	OMIM:300868
HP:0012647	Abnormal inflammatory response	27019	DNAI1	OMIM:244400
HP:0012647	Abnormal inflammatory response	4534	MTM1	ORPHA:596
HP:0012647	Abnormal inflammatory response	7092	TLL1	ORPHA:99103
HP:0012647	Abnormal inflammatory response	57057	TBX20	ORPHA:99103
HP:0012647	Abnormal inflammatory response	4624	MYH6	ORPHA:99103
HP:0012647	Abnormal inflammatory response	1482	NKX2-5	ORPHA:99103
HP:0012647	Abnormal inflammatory response	70	ACTC1	ORPHA:99103
HP:0012647	Abnormal inflammatory response	10370	CITED2	ORPHA:99103
HP:0012647	Abnormal inflammatory response	2626	GATA4	ORPHA:99103
HP:0012647	Abnormal inflammatory response	2627	GATA6	ORPHA:99103
HP:0012647	Abnormal inflammatory response	28962	OSTM1	ORPHA:85179
HP:0012647	Abnormal inflammatory response	54914	FOCAD	OMIM:619991
HP:0012647	Abnormal inflammatory response	9841	ZBTB24	OMIM:614069
HP:0012647	Abnormal inflammatory response	64446	DNAI2	OMIM:612444
HP:0012647	Abnormal inflammatory response	6023	RMRP	ORPHA:39041
HP:0012647	Abnormal inflammatory response	55636	CHD7	ORPHA:39041
HP:0012647	Abnormal inflammatory response	3981	LIG4	ORPHA:39041
HP:0012647	Abnormal inflammatory response	11128	POLR3A	OMIM:264090
HP:0012647	Abnormal inflammatory response	374879	ZNF699	OMIM:619488
HP:0012647	Abnormal inflammatory response	5728	PTEN	ORPHA:397596
HP:0012647	Abnormal inflammatory response	5293	PIK3CD	ORPHA:397596
HP:0012647	Abnormal inflammatory response	5293	PIK3CD	OMIM:613328
HP:0012647	Abnormal inflammatory response	629	CFB	OMIM:615561
HP:0012647	Abnormal inflammatory response	64135	IFIH1	OMIM:615846
HP:0012647	Abnormal inflammatory response	2215	FCGR3B	ORPHA:464370
HP:0012647	Abnormal inflammatory response	6440	SFTPC	ORPHA:685082
HP:0012647	Abnormal inflammatory response	21	ABCA3	ORPHA:685082
HP:0012647	Abnormal inflammatory response	6439	SFTPB	ORPHA:685082
HP:0012647	Abnormal inflammatory response	775	CACNA1C	OMIM:601005
HP:0012647	Abnormal inflammatory response	5966	REL	OMIM:619652
HP:0012647	Abnormal inflammatory response	50943	FOXP3	ORPHA:37042
HP:0012647	Abnormal inflammatory response	84433	CARD11	OMIM:617638
HP:0012647	Abnormal inflammatory response	6261	RYR1	ORPHA:98905
HP:0012647	Abnormal inflammatory response	23765	IL17RA	OMIM:613953
HP:0012647	Abnormal inflammatory response	3594	IL12RB1	ORPHA:319552
HP:0012647	Abnormal inflammatory response	5903	RANBP2	OMIM:608033
HP:0012647	Abnormal inflammatory response	37	ACADVL	ORPHA:26793
HP:0012647	Abnormal inflammatory response	6850	SYK	OMIM:619381
HP:0012647	Abnormal inflammatory response	345643	MCIDAS	OMIM:618695
HP:0012647	Abnormal inflammatory response	90417	KNSTRN	OMIM:613328
HP:0012647	Abnormal inflammatory response	4054	LTBP3	OMIM:617809
HP:0012647	Abnormal inflammatory response	81704	DOCK8	ORPHA:217390
HP:0012647	Abnormal inflammatory response	9786	KIAA0586	ORPHA:397715
HP:0012647	Abnormal inflammatory response	427	ASAH1	ORPHA:2590
HP:0012647	Abnormal inflammatory response	535	ATP6V0A1	OMIM:619971
HP:0012647	Abnormal inflammatory response	4281	MID1	ORPHA:2745
HP:0012647	Abnormal inflammatory response	29957	SLC25A24	OMIM:612289
HP:0012647	Abnormal inflammatory response	9361	LONP1	ORPHA:79243
HP:0012647	Abnormal inflammatory response	5160	PDHA1	ORPHA:79243
HP:0012647	Abnormal inflammatory response	3431	SP110	ORPHA:79124
HP:0012647	Abnormal inflammatory response	378884	NHLRC1	ORPHA:501
HP:0012647	Abnormal inflammatory response	7957	EPM2A	ORPHA:501
HP:0012647	Abnormal inflammatory response	4842	NOS1	ORPHA:930
HP:0012647	Abnormal inflammatory response	353116	RILPL1	ORPHA:98897
HP:0012647	Abnormal inflammatory response	10755	GIPC1	ORPHA:98897
HP:0012647	Abnormal inflammatory response	29967	LRP12	ORPHA:98897
HP:0012647	Abnormal inflammatory response	100996717	NOTCH2NLC	ORPHA:98897
HP:0012647	Abnormal inflammatory response	8915	BCL10	OMIM:616098
HP:0012647	Abnormal inflammatory response	9652	SKIC3	ORPHA:84064
HP:0012647	Abnormal inflammatory response	811	CALR	ORPHA:131
HP:0012647	Abnormal inflammatory response	3717	JAK2	ORPHA:131
HP:0012647	Abnormal inflammatory response	2153	F5	ORPHA:131
HP:0012647	Abnormal inflammatory response	672	BRCA1	ORPHA:168829
HP:0012647	Abnormal inflammatory response	4868	NPHS1	ORPHA:656
HP:0012647	Abnormal inflammatory response	23607	CD2AP	ORPHA:656
HP:0012647	Abnormal inflammatory response	9688	NUP93	ORPHA:656
HP:0012647	Abnormal inflammatory response	4643	MYO1E	ORPHA:656
HP:0012647	Abnormal inflammatory response	64423	INF2	ORPHA:656
HP:0012647	Abnormal inflammatory response	26130	GAPVD1	ORPHA:656
HP:0012647	Abnormal inflammatory response	7490	WT1	ORPHA:656
HP:0012647	Abnormal inflammatory response	51479	ANKFY1	ORPHA:656
HP:0012647	Abnormal inflammatory response	54443	ANLN	ORPHA:656
HP:0012647	Abnormal inflammatory response	5800	PTPRO	ORPHA:656
HP:0012647	Abnormal inflammatory response	286204	CRB2	ORPHA:656
HP:0012647	Abnormal inflammatory response	23165	NUP205	ORPHA:656
HP:0012647	Abnormal inflammatory response	2013	EMP2	ORPHA:656
HP:0012647	Abnormal inflammatory response	79023	NUP37	ORPHA:656
HP:0012647	Abnormal inflammatory response	51196	PLCE1	ORPHA:656
HP:0012647	Abnormal inflammatory response	79902	NUP85	ORPHA:656
HP:0012647	Abnormal inflammatory response	396	ARHGDIA	ORPHA:656
HP:0012647	Abnormal inflammatory response	79934	COQ8B	ORPHA:656
HP:0012647	Abnormal inflammatory response	23279	NUP160	ORPHA:656
HP:0012647	Abnormal inflammatory response	9863	MAGI2	ORPHA:656
HP:0012647	Abnormal inflammatory response	81	ACTN4	ORPHA:656
HP:0012647	Abnormal inflammatory response	7225	TRPC6	ORPHA:656
HP:0012647	Abnormal inflammatory response	8542	APOL1	ORPHA:656
HP:0012647	Abnormal inflammatory response	54885	TBC1D8B	ORPHA:656
HP:0012647	Abnormal inflammatory response	7827	NPHS2	ORPHA:656
HP:0012647	Abnormal inflammatory response	83478	ARHGAP24	ORPHA:656
HP:0012647	Abnormal inflammatory response	23500	DAAM2	ORPHA:656
HP:0012647	Abnormal inflammatory response	5076	PAX2	ORPHA:656
HP:0012647	Abnormal inflammatory response	55746	NUP133	ORPHA:656
HP:0012647	Abnormal inflammatory response	57724	EPG5	OMIM:242840
HP:0012647	Abnormal inflammatory response	9020	MAP3K14	OMIM:620449
HP:0012647	Abnormal inflammatory response	3043	HBB	ORPHA:232
HP:0012647	Abnormal inflammatory response	9842	PLEKHM1	ORPHA:210110
HP:0012647	Abnormal inflammatory response	25923	ATL3	OMIM:615632
HP:0012647	Abnormal inflammatory response	25923	ATL3	ORPHA:36386
HP:0012647	Abnormal inflammatory response	5238	PGM3	ORPHA:443811
HP:0012647	Abnormal inflammatory response	8517	IKBKG	OMIM:301081
HP:0012647	Abnormal inflammatory response	4803	NGF	OMIM:608654
HP:0012647	Abnormal inflammatory response	6340	SCNN1G	ORPHA:171876
HP:0012647	Abnormal inflammatory response	6337	SCNN1A	ORPHA:171876
HP:0012647	Abnormal inflammatory response	6338	SCNN1B	ORPHA:171876
HP:0012647	Abnormal inflammatory response	3557	IL1RN	OMIM:612852
HP:0012647	Abnormal inflammatory response	1786	DNMT1	OMIM:614116
HP:0012647	Abnormal inflammatory response	51062	ATL1	OMIM:613708
HP:0012647	Abnormal inflammatory response	51062	ATL1	ORPHA:36386
HP:0012647	Abnormal inflammatory response	10558	SPTLC1	OMIM:162400
HP:0012647	Abnormal inflammatory response	10558	SPTLC1	ORPHA:36386
HP:0012647	Abnormal inflammatory response	84905	ZNF341	OMIM:618282
HP:0012647	Abnormal inflammatory response	3554	IL1R1	OMIM:259680
HP:0012647	Abnormal inflammatory response	6772	STAT1	OMIM:614162
HP:0012647	Abnormal inflammatory response	28982	FLVCR1	ORPHA:88628
HP:0012647	Abnormal inflammatory response	8218	CLTCL1	ORPHA:453510
HP:0012647	Abnormal inflammatory response	6774	STAT3	ORPHA:2314
HP:0012647	Abnormal inflammatory response	54463	RETREG1	OMIM:613115
HP:0012647	Abnormal inflammatory response	2019	EN1	OMIM:619218
HP:0012647	Abnormal inflammatory response	3248	HPGD	ORPHA:2796
HP:0012647	Abnormal inflammatory response	6578	SLCO2A1	ORPHA:2796
HP:0012647	Abnormal inflammatory response	29110	TBK1	OMIM:620880
HP:0012647	Abnormal inflammatory response	4914	NTRK1	ORPHA:642
HP:0012647	Abnormal inflammatory response	4914	NTRK1	OMIM:256800
HP:0012647	Abnormal inflammatory response	538	ATP7A	ORPHA:565
HP:0012647	Abnormal inflammatory response	2624	GATA2	OMIM:614172
HP:0012647	Abnormal inflammatory response	205327	C2orf69	OMIM:619423
HP:0012647	Abnormal inflammatory response	28985	MCTS1	OMIM:301115
HP:0012647	Abnormal inflammatory response	5283	PIGH	OMIM:618010
HP:0012647	Abnormal inflammatory response	9517	SPTLC2	OMIM:613640
HP:0012647	Abnormal inflammatory response	9517	SPTLC2	ORPHA:36386
HP:0012647	Abnormal inflammatory response	203859	ANO5	OMIM:166260
HP:0012647	Abnormal inflammatory response	4615	MYD88	OMIM:612260
HP:0012647	Abnormal inflammatory response	4598	MVK	OMIM:260920
HP:0012647	Abnormal inflammatory response	10616	RBCK1	OMIM:615895
HP:0012647	Abnormal inflammatory response	6773	STAT2	OMIM:618886
HP:0012647	Abnormal inflammatory response	5880	RAC2	OMIM:618986
HP:0012647	Abnormal inflammatory response	8913	CACNA1G	ORPHA:458803
HP:0012647	Abnormal inflammatory response	3107	HLA-C	OMIM:177900
HP:0012647	Abnormal inflammatory response	2625	GATA3	ORPHA:2237
HP:0012647	Abnormal inflammatory response	64919	BCL11B	OMIM:617237
HP:0012647	Abnormal inflammatory response	55806	HR	ORPHA:701
HP:0012647	Abnormal inflammatory response	55315	SLC29A3	ORPHA:168569
HP:0012647	Abnormal inflammatory response	6307	MSMO1	OMIM:616834
HP:0012647	Abnormal inflammatory response	1308	COL17A1	ORPHA:79406
HP:0012647	Abnormal inflammatory response	4312	MMP1	ORPHA:79408
HP:0012647	Abnormal inflammatory response	1294	COL7A1	ORPHA:79408
HP:0012647	Abnormal inflammatory response	1294	COL7A1	ORPHA:79409
HP:0012647	Abnormal inflammatory response	1294	COL7A1	ORPHA:79410
HP:0012647	Abnormal inflammatory response	1294	COL7A1	ORPHA:79411
HP:0012647	Abnormal inflammatory response	23534	TNPO3	ORPHA:186
HP:0012647	Abnormal inflammatory response	6689	SPIB	ORPHA:186
HP:0012647	Abnormal inflammatory response	5450	POU2AF1	ORPHA:186
HP:0012647	Abnormal inflammatory response	9966	TNFSF15	ORPHA:186
HP:0012647	Abnormal inflammatory response	79258	MMEL1	ORPHA:186
HP:0012647	Abnormal inflammatory response	3663	IRF5	ORPHA:186
HP:0012647	Abnormal inflammatory response	5979	RET	ORPHA:388
HP:0012647	Abnormal inflammatory response	5979	RET	OMIM:142623
HP:0012647	Abnormal inflammatory response	2668	GDNF	ORPHA:388
HP:0012647	Abnormal inflammatory response	6608	SMO	ORPHA:388
HP:0012647	Abnormal inflammatory response	1889	ECE1	ORPHA:388
HP:0012647	Abnormal inflammatory response	1908	EDN3	ORPHA:388
HP:0012647	Abnormal inflammatory response	223117	SEMA3D	ORPHA:388
HP:0012647	Abnormal inflammatory response	1910	EDNRB	ORPHA:388
HP:0012647	Abnormal inflammatory response	10512	SEMA3C	ORPHA:388
HP:0012647	Abnormal inflammatory response	2064	ERBB2	ORPHA:388
HP:0012647	Abnormal inflammatory response	2065	ERBB3	ORPHA:388
HP:0012647	Abnormal inflammatory response	4902	NRTN	ORPHA:388
HP:0012647	Abnormal inflammatory response	26873	OPLAH	OMIM:260005
HP:0012647	Abnormal inflammatory response	10068	IL18BP	OMIM:618549
HP:0012647	Abnormal inflammatory response	3875	KRT18	OMIM:215600
HP:0012647	Abnormal inflammatory response	4068	SH2D1A	OMIM:308240
HP:0012647	Abnormal inflammatory response	4507	MTAP	OMIM:112250
HP:0012647	Abnormal inflammatory response	51135	IRAK4	ORPHA:70592
HP:0012647	Abnormal inflammatory response	435	ASL	ORPHA:23
HP:0012647	Abnormal inflammatory response	63929	XPNPEP3	OMIM:613159
HP:0012647	Abnormal inflammatory response	2710	GK	OMIM:307030
HP:0012647	Abnormal inflammatory response	3476	IGBP1	OMIM:300472
HP:0012647	Abnormal inflammatory response	2137	EXTL3	ORPHA:508533
HP:0012647	Abnormal inflammatory response	2137	EXTL3	OMIM:617425
HP:0012647	Abnormal inflammatory response	4921	DDR2	OMIM:271665
HP:0012647	Abnormal inflammatory response	3763	KCNJ6	ORPHA:435628
HP:0012647	Abnormal inflammatory response	3763	KCNJ6	OMIM:614098
HP:0012647	Abnormal inflammatory response	5351	PLOD1	OMIM:225400
HP:0012647	Abnormal inflammatory response	5351	PLOD1	ORPHA:1900
HP:0012647	Abnormal inflammatory response	6477	SIAH1	OMIM:619314
HP:0012647	Abnormal inflammatory response	8425	LTBP4	OMIM:613177
HP:0012647	Abnormal inflammatory response	11133	KPTN	OMIM:615637
HP:0012647	Abnormal inflammatory response	11133	KPTN	ORPHA:397612
HP:0012647	Abnormal inflammatory response	81857	MED25	OMIM:616449
HP:0012647	Abnormal inflammatory response	81857	MED25	ORPHA:464738
HP:0012647	Abnormal inflammatory response	755	CFAP410	OMIM:602271
HP:0012647	Abnormal inflammatory response	126792	B3GALT6	OMIM:609465
HP:0012647	Abnormal inflammatory response	1302	COL11A2	OMIM:215150
HP:0012647	Abnormal inflammatory response	4522	MTHFD1	OMIM:617780
HP:0012647	Abnormal inflammatory response	9948	WDR1	OMIM:150550
HP:0012647	Abnormal inflammatory response	939	CD27	OMIM:615122
HP:0012647	Abnormal inflammatory response	23149	FCHO1	OMIM:619164
HP:0012647	Abnormal inflammatory response	10157	AASS	ORPHA:2203
HP:0012647	Abnormal inflammatory response	5184	PEPD	OMIM:170100
HP:0012647	Abnormal inflammatory response	56246	MRAP	OMIM:607398
HP:0012647	Abnormal inflammatory response	3417	IDH1	ORPHA:99646
HP:0012647	Abnormal inflammatory response	6904	TBCD	ORPHA:496641
HP:0012647	Abnormal inflammatory response	6595	SMARCA2	OMIM:619293
HP:0012647	Abnormal inflammatory response	4001	LMNB1	OMIM:619179
HP:0012647	Abnormal inflammatory response	7084	TK2	ORPHA:254875
HP:0012647	Abnormal inflammatory response	1956	EGFR	OMIM:616069
HP:0012647	Abnormal inflammatory response	3952	LEP	OMIM:614962
HP:0012647	Abnormal inflammatory response	8792	TNFRSF11A	OMIM:612301
HP:0012647	Abnormal inflammatory response	10095	ARPC1B	OMIM:617718
HP:0012647	Abnormal inflammatory response	7080	NKX2-1	ORPHA:209905
HP:0012647	Abnormal inflammatory response	79087	ALG12	OMIM:607143
HP:0012647	Abnormal inflammatory response	79087	ALG12	ORPHA:79324
HP:0012647	Abnormal inflammatory response	54681	P4HTM	OMIM:618493
HP:0012647	Abnormal inflammatory response	23594	ORC6	OMIM:613803
HP:0012647	Abnormal inflammatory response	26040	SETBP1	ORPHA:798
HP:0012647	Abnormal inflammatory response	64864	RFX7	OMIM:620330
HP:0012647	Abnormal inflammatory response	2074	ERCC6	OMIM:214150
HP:0012647	Abnormal inflammatory response	2328	FMO3	OMIM:602079
HP:0012647	Abnormal inflammatory response	2588	GALNS	OMIM:253000
HP:0012647	Abnormal inflammatory response	718	C3	OMIM:613779
HP:0012647	Abnormal inflammatory response	4796	TONSL	ORPHA:93357
HP:0012647	Abnormal inflammatory response	57169	ZNFX1	OMIM:619644
HP:0012647	Abnormal inflammatory response	51341	ZBTB7A	OMIM:619769
HP:0012647	Abnormal inflammatory response	5422	POLA1	OMIM:301220
HP:0012647	Abnormal inflammatory response	5317	PKP1	ORPHA:158668
HP:0012647	Abnormal inflammatory response	54941	RNF125	OMIM:616260
HP:0012647	Abnormal inflammatory response	10747	MASP2	OMIM:613791
HP:0012647	Abnormal inflammatory response	27040	LAT	OMIM:617514
HP:0012647	Abnormal inflammatory response	84466	MEGF10	OMIM:620249
HP:0012647	Abnormal inflammatory response	284119	CAVIN1	OMIM:613327
HP:0012647	Abnormal inflammatory response	871	SERPINH1	OMIM:613848
HP:0012647	Abnormal inflammatory response	55294	FBXW7	OMIM:620012
HP:0012647	Abnormal inflammatory response	5813	PURA	ORPHA:314655
HP:0012647	Abnormal inflammatory response	4233	MET	OMIM:114550
HP:0012647	Abnormal inflammatory response	1499	CTNNB1	OMIM:114550
HP:0012647	Abnormal inflammatory response	8312	AXIN1	OMIM:114550
HP:0012647	Abnormal inflammatory response	324	APC	OMIM:114550
HP:0012647	Abnormal inflammatory response	5157	PDGFRL	OMIM:114550
HP:0012647	Abnormal inflammatory response	3482	IGF2R	OMIM:114550
HP:0012647	Abnormal inflammatory response	2629	GBA1	ORPHA:2072
HP:0012647	Abnormal inflammatory response	23592	LEMD3	ORPHA:166119
HP:0012647	Abnormal inflammatory response	714	C1QC	OMIM:620322
HP:0012647	Abnormal inflammatory response	727	C5	OMIM:609536
HP:0012647	Abnormal inflammatory response	1314	COPA	OMIM:616414
HP:0012647	Abnormal inflammatory response	64170	CARD9	OMIM:212050
HP:0012647	Abnormal inflammatory response	22806	IKZF3	OMIM:619437
HP:0012647	Abnormal inflammatory response	4149	MAX	OMIM:620712
HP:0012647	Abnormal inflammatory response	3110	MNX1	OMIM:176450
HP:0012647	Abnormal inflammatory response	5371	PML	ORPHA:520
HP:0012647	Abnormal inflammatory response	5914	RARA	ORPHA:520
HP:0012647	Abnormal inflammatory response	81608	FIP1L1	ORPHA:520
HP:0012647	Abnormal inflammatory response	5573	PRKAR1A	ORPHA:520
HP:0012647	Abnormal inflammatory response	54880	BCOR	ORPHA:520
HP:0012647	Abnormal inflammatory response	64859	NABP1	ORPHA:520
HP:0012647	Abnormal inflammatory response	6777	STAT5B	ORPHA:520
HP:0012647	Abnormal inflammatory response	4926	NUMA1	ORPHA:520
HP:0012647	Abnormal inflammatory response	7704	ZBTB16	ORPHA:520
HP:0012647	Abnormal inflammatory response	79718	TBL1XR1	ORPHA:520
HP:0012647	Abnormal inflammatory response	2642	GCGR	ORPHA:438274
HP:0012647	Abnormal inflammatory response	3702	ITK	OMIM:613011
HP:0012647	Abnormal inflammatory response	84876	ORAI1	OMIM:612782
HP:0012647	Abnormal inflammatory response	399	RHOH	OMIM:618307
HP:0012647	Abnormal inflammatory response	10379	IRF9	OMIM:618648
HP:0012647	Abnormal inflammatory response	55788	LMBRD1	OMIM:277380
HP:0012647	Abnormal inflammatory response	55788	LMBRD1	ORPHA:79284
HP:0012647	Abnormal inflammatory response	25974	MMACHC	ORPHA:79282
HP:0012647	Abnormal inflammatory response	3117	HLA-DQA1	OMIM:212750
HP:0012647	Abnormal inflammatory response	3119	HLA-DQB1	OMIM:212750
HP:0012647	Abnormal inflammatory response	8942	KYNU	ORPHA:79155
HP:0012647	Abnormal inflammatory response	959	CD40LG	OMIM:308230
HP:0012647	Abnormal inflammatory response	54453	RIN2	OMIM:613075
HP:0012647	Abnormal inflammatory response	6097	RORC	OMIM:616622
HP:0012647	Abnormal inflammatory response	10525	HYOU1	OMIM:233600
HP:0012647	Abnormal inflammatory response	10892	MALT1	OMIM:615468
HP:0012647	Abnormal inflammatory response	148022	TICAM1	OMIM:614850
HP:0012647	Abnormal inflammatory response	5591	PRKDC	OMIM:615966
HP:0012647	Abnormal inflammatory response	91662	NLRP12	OMIM:611762
HP:0012647	Abnormal inflammatory response	374407	DNAJB13	OMIM:617091
HP:0012647	Abnormal inflammatory response	139212	DNAAF6	OMIM:300991
HP:0012647	Abnormal inflammatory response	30011	SH3KBP1	OMIM:300310
HP:0012647	Abnormal inflammatory response	5580	PRKCD	OMIM:615559
HP:0012647	Abnormal inflammatory response	27148	STK36	OMIM:619436
HP:0012647	Abnormal inflammatory response	54440	SASH3	OMIM:301082
HP:0012647	Abnormal inflammatory response	6789	STK4	OMIM:614868
HP:0012647	Abnormal inflammatory response	345895	RSPH4A	OMIM:612649
HP:0012647	Abnormal inflammatory response	54499	TMCO1	OMIM:213980
HP:0012647	Abnormal inflammatory response	9094	UNC119	OMIM:615518
HP:0012647	Abnormal inflammatory response	54768	HYDIN	OMIM:608647
HP:0012647	Abnormal inflammatory response	89765	RSPH1	OMIM:615481
HP:0012647	Abnormal inflammatory response	161582	DNAAF4	OMIM:615482
HP:0012647	Abnormal inflammatory response	1289	COL5A1	OMIM:130000
HP:0012647	Abnormal inflammatory response	6813	STXBP2	OMIM:613101
HP:0012647	Abnormal inflammatory response	54919	DNAAF5	OMIM:614874
HP:0012647	Abnormal inflammatory response	54014	BRWD1	OMIM:620438
HP:0012647	Abnormal inflammatory response	51364	ZMYND10	OMIM:615444
HP:0012647	Abnormal inflammatory response	1767	DNAH5	OMIM:608644
HP:0012647	Abnormal inflammatory response	85452	CFAP74	OMIM:620197
HP:0012647	Abnormal inflammatory response	8382	NME5	OMIM:620032
HP:0012647	Abnormal inflammatory response	3604	TNFRSF9	OMIM:620282
HP:0012647	Abnormal inflammatory response	84061	MAGT1	OMIM:300853
HP:0012647	Abnormal inflammatory response	123872	DNAAF1	OMIM:613193
HP:0012647	Abnormal inflammatory response	1290	COL5A2	OMIM:130010
HP:0012647	Abnormal inflammatory response	55130	ODAD2	OMIM:615451
HP:0012647	Abnormal inflammatory response	10625	IVNS1ABP	OMIM:618969
HP:0012647	Abnormal inflammatory response	4194	MDM4	OMIM:618849
HP:0012647	Abnormal inflammatory response	3551	IKBKB	OMIM:618204
HP:0012647	Abnormal inflammatory response	246176	GAS2L2	OMIM:618449
HP:0012647	Abnormal inflammatory response	6899	TBX1	OMIM:188400
HP:0012647	Abnormal inflammatory response	93233	ODAD1	OMIM:615067
HP:0012647	Abnormal inflammatory response	56683	CFAP298	OMIM:615500
HP:0012647	Abnormal inflammatory response	85478	CCDC65	OMIM:615504
HP:0012647	Abnormal inflammatory response	6674	SPAG1	OMIM:615505
HP:0012647	Abnormal inflammatory response	2214	FCGR3A	OMIM:615707
HP:0012647	Abnormal inflammatory response	4792	NFKBIA	ORPHA:98813
HP:0012647	Abnormal inflammatory response	23639	DNAAF11	OMIM:614935
HP:0012647	Abnormal inflammatory response	55172	DNAAF2	OMIM:612518
HP:0012647	Abnormal inflammatory response	85016	CFAP300	OMIM:618063
HP:0012647	Abnormal inflammatory response	85016	CFAP300	ORPHA:244
HP:0012647	Abnormal inflammatory response	83538	ODAD4	OMIM:617092
HP:0012647	Abnormal inflammatory response	83538	ODAD4	ORPHA:244
HP:0012647	Abnormal inflammatory response	92749	DRC1	OMIM:615294
HP:0012647	Abnormal inflammatory response	92749	DRC1	ORPHA:244
HP:0012647	Abnormal inflammatory response	1770	DNAH9	OMIM:618300
HP:0012647	Abnormal inflammatory response	1770	DNAH9	ORPHA:244
HP:0012647	Abnormal inflammatory response	83861	RSPH3	OMIM:616481
HP:0012647	Abnormal inflammatory response	83861	RSPH3	ORPHA:244
HP:0012647	Abnormal inflammatory response	79848	CSPP1	OMIM:615636
HP:0012647	Abnormal inflammatory response	6890	TAP1	OMIM:604571
HP:0012647	Abnormal inflammatory response	79645	CLXN	OMIM:620642
HP:0012647	Abnormal inflammatory response	25981	DNAH1	ORPHA:244
HP:0012647	Abnormal inflammatory response	115948	ODAD3	ORPHA:244
HP:0012647	Abnormal inflammatory response	115948	ODAD3	OMIM:616037
HP:0012647	Abnormal inflammatory response	54970	TTC12	ORPHA:244
HP:0012647	Abnormal inflammatory response	8481	OFD1	ORPHA:244
HP:0012647	Abnormal inflammatory response	2302	FOXJ1	ORPHA:244
HP:0012647	Abnormal inflammatory response	2302	FOXJ1	OMIM:618699
HP:0012647	Abnormal inflammatory response	221421	RSPH9	ORPHA:244
HP:0012647	Abnormal inflammatory response	221421	RSPH9	OMIM:612650
HP:0012647	Abnormal inflammatory response	55036	CCDC40	ORPHA:244
HP:0012647	Abnormal inflammatory response	55036	CCDC40	OMIM:613808
HP:0012647	Abnormal inflammatory response	83544	DNAL1	ORPHA:244
HP:0012647	Abnormal inflammatory response	83544	DNAL1	OMIM:614017
HP:0012647	Abnormal inflammatory response	200373	CFAP221	ORPHA:244
HP:0012647	Abnormal inflammatory response	2622	GAS8	ORPHA:244
HP:0012647	Abnormal inflammatory response	79925	SPEF2	ORPHA:244
HP:0012647	Abnormal inflammatory response	10309	CCNO	ORPHA:244
HP:0012647	Abnormal inflammatory response	115399	LRRC56	ORPHA:244
HP:0012647	Abnormal inflammatory response	8701	DNAH11	ORPHA:244
HP:0012647	Abnormal inflammatory response	146845	CFAP52	OMIM:619607
HP:0012647	Abnormal inflammatory response	25790	CFAP45	OMIM:619608
HP:0012647	Abnormal inflammatory response	6891	TAP2	OMIM:620813
HP:0012647	Abnormal inflammatory response	388389	DNAAF19	OMIM:614679
HP:0012647	Abnormal inflammatory response	56171	DNAH7	OMIM:620356
HP:0012647	Abnormal inflammatory response	10295	BCKDK	OMIM:614923
HP:0012647	Abnormal inflammatory response	22845	DOLK	OMIM:610768
HP:0012647	Abnormal inflammatory response	7317	UBA1	OMIM:301054
HP:0012647	Abnormal inflammatory response	57152	SLURP1	ORPHA:87503
HP:0012647	Abnormal inflammatory response	2683	B4GALT1	ORPHA:79332
HP:0012647	Abnormal inflammatory response	4072	EPCAM	ORPHA:92050
HP:0012647	Abnormal inflammatory response	105371045	PERCC1	ORPHA:92050
HP:0012647	Abnormal inflammatory response	1439	CSF2RB	ORPHA:264675
HP:0012647	Abnormal inflammatory response	1438	CSF2RA	ORPHA:264675
HP:0012647	Abnormal inflammatory response	5373	PMM2	ORPHA:79318
HP:0012647	Abnormal inflammatory response	4784	NFIX	OMIM:602535
HP:0012647	Abnormal inflammatory response	9342	SNAP29	OMIM:609528
HP:0012647	Abnormal inflammatory response	55791	LRIF1	OMIM:619477
HP:0012647	Abnormal inflammatory response	54809	SAMD9	OMIM:617053
HP:0012647	Abnormal inflammatory response	55037	PTCD3	OMIM:619057
HP:0012647	Abnormal inflammatory response	2260	FGFR1	ORPHA:220386
HP:0012647	Abnormal inflammatory response	2260	FGFR1	ORPHA:93924
HP:0012647	Abnormal inflammatory response	28514	DLL1	ORPHA:220386
HP:0012647	Abnormal inflammatory response	28514	DLL1	ORPHA:93926
HP:0012647	Abnormal inflammatory response	28514	DLL1	ORPHA:93924
HP:0012647	Abnormal inflammatory response	28514	DLL1	ORPHA:93925
HP:0012647	Abnormal inflammatory response	10735	STAG2	ORPHA:220386
HP:0012647	Abnormal inflammatory response	10735	STAG2	ORPHA:93925
HP:0012647	Abnormal inflammatory response	2253	FGF8	ORPHA:220386
HP:0012647	Abnormal inflammatory response	2253	FGF8	ORPHA:93926
HP:0012647	Abnormal inflammatory response	2253	FGF8	ORPHA:93924
HP:0012647	Abnormal inflammatory response	2253	FGF8	ORPHA:93925
HP:0012647	Abnormal inflammatory response	8243	SMC1A	ORPHA:220386
HP:0012647	Abnormal inflammatory response	6496	SIX3	ORPHA:220386
HP:0012647	Abnormal inflammatory response	6496	SIX3	ORPHA:93926
HP:0012647	Abnormal inflammatory response	6496	SIX3	ORPHA:93924
HP:0012647	Abnormal inflammatory response	6496	SIX3	ORPHA:93925
HP:0012647	Abnormal inflammatory response	7050	TGIF1	ORPHA:220386
HP:0012647	Abnormal inflammatory response	7050	TGIF1	ORPHA:93926
HP:0012647	Abnormal inflammatory response	7050	TGIF1	ORPHA:93924
HP:0012647	Abnormal inflammatory response	7050	TGIF1	ORPHA:93925
HP:0012647	Abnormal inflammatory response	4838	NODAL	ORPHA:220386
HP:0012647	Abnormal inflammatory response	4838	NODAL	ORPHA:93926
HP:0012647	Abnormal inflammatory response	4838	NODAL	ORPHA:93924
HP:0012647	Abnormal inflammatory response	4838	NODAL	ORPHA:93925
HP:0012647	Abnormal inflammatory response	6469	SHH	ORPHA:220386
HP:0012647	Abnormal inflammatory response	6469	SHH	ORPHA:93926
HP:0012647	Abnormal inflammatory response	6469	SHH	ORPHA:93924
HP:0012647	Abnormal inflammatory response	6469	SHH	ORPHA:93925
HP:0012647	Abnormal inflammatory response	7546	ZIC2	ORPHA:220386
HP:0012647	Abnormal inflammatory response	7546	ZIC2	ORPHA:93926
HP:0012647	Abnormal inflammatory response	7546	ZIC2	ORPHA:93924
HP:0012647	Abnormal inflammatory response	7546	ZIC2	ORPHA:93925
HP:0012647	Abnormal inflammatory response	6491	STIL	ORPHA:220386
HP:0012647	Abnormal inflammatory response	6491	STIL	ORPHA:93926
HP:0012647	Abnormal inflammatory response	6491	STIL	ORPHA:93924
HP:0012647	Abnormal inflammatory response	6491	STIL	ORPHA:93925
HP:0012647	Abnormal inflammatory response	2619	GAS1	ORPHA:220386
HP:0012647	Abnormal inflammatory response	2619	GAS1	ORPHA:93926
HP:0012647	Abnormal inflammatory response	2619	GAS1	ORPHA:93924
HP:0012647	Abnormal inflammatory response	2619	GAS1	ORPHA:93925
HP:0012647	Abnormal inflammatory response	84976	DISP1	ORPHA:220386
HP:0012647	Abnormal inflammatory response	84976	DISP1	ORPHA:93926
HP:0012647	Abnormal inflammatory response	84976	DISP1	ORPHA:93924
HP:0012647	Abnormal inflammatory response	84976	DISP1	ORPHA:93925
HP:0012647	Abnormal inflammatory response	2736	GLI2	ORPHA:220386
HP:0012647	Abnormal inflammatory response	2736	GLI2	ORPHA:93926
HP:0012647	Abnormal inflammatory response	2736	GLI2	ORPHA:93924
HP:0012647	Abnormal inflammatory response	2736	GLI2	ORPHA:93925
HP:0012647	Abnormal inflammatory response	8928	FOXH1	ORPHA:220386
HP:0012647	Abnormal inflammatory response	8928	FOXH1	ORPHA:93926
HP:0012647	Abnormal inflammatory response	8928	FOXH1	ORPHA:93924
HP:0012647	Abnormal inflammatory response	8928	FOXH1	ORPHA:93925
HP:0012647	Abnormal inflammatory response	6997	CRIPTO	ORPHA:220386
HP:0012647	Abnormal inflammatory response	6997	CRIPTO	ORPHA:93926
HP:0012647	Abnormal inflammatory response	6997	CRIPTO	ORPHA:93924
HP:0012647	Abnormal inflammatory response	6997	CRIPTO	ORPHA:93925
HP:0012647	Abnormal inflammatory response	5727	PTCH1	ORPHA:220386
HP:0012647	Abnormal inflammatory response	5727	PTCH1	ORPHA:93926
HP:0012647	Abnormal inflammatory response	5727	PTCH1	ORPHA:93924
HP:0012647	Abnormal inflammatory response	5727	PTCH1	ORPHA:93925
HP:0012647	Abnormal inflammatory response	50937	CDON	ORPHA:220386
HP:0012647	Abnormal inflammatory response	50937	CDON	ORPHA:93926
HP:0012647	Abnormal inflammatory response	50937	CDON	ORPHA:93924
HP:0012647	Abnormal inflammatory response	50937	CDON	ORPHA:93925
HP:0012647	Abnormal inflammatory response	27125	AFF4	OMIM:616368
HP:0012647	Abnormal inflammatory response	27125	AFF4	ORPHA:444077
HP:0012647	Abnormal inflammatory response	6597	SMARCA4	ORPHA:1465
HP:0012647	Abnormal inflammatory response	6598	SMARCB1	ORPHA:1465
HP:0012647	Abnormal inflammatory response	6659	SOX4	ORPHA:1465
HP:0012647	Abnormal inflammatory response	8289	ARID1A	ORPHA:1465
HP:0012647	Abnormal inflammatory response	6601	SMARCC2	ORPHA:1465
HP:0012647	Abnormal inflammatory response	6602	SMARCD1	ORPHA:1465
HP:0012647	Abnormal inflammatory response	57492	ARID1B	ORPHA:1465
HP:0012647	Abnormal inflammatory response	196528	ARID2	ORPHA:1465
HP:0012647	Abnormal inflammatory response	6605	SMARCE1	ORPHA:1465
HP:0012647	Abnormal inflammatory response	6664	SOX11	ORPHA:1465
HP:0012647	Abnormal inflammatory response	8398	PLA2G6	ORPHA:35069
HP:0012647	Abnormal inflammatory response	5048	PAFAH1B1	ORPHA:95232
HP:0012647	Abnormal inflammatory response	526	ATP6V1B2	ORPHA:79500
HP:0012647	Abnormal inflammatory response	57465	TBC1D24	ORPHA:79500
HP:0012647	Abnormal inflammatory response	9896	FIG4	OMIM:216340
HP:0012647	Abnormal inflammatory response	1678	TIMM8A	ORPHA:52368
HP:0012647	Abnormal inflammatory response	283446	MYO1H	OMIM:619482
HP:0012647	Abnormal inflammatory response	4633	MYL2	ORPHA:2020
HP:0012647	Abnormal inflammatory response	3679	ITGA7	ORPHA:2020
HP:0012647	Abnormal inflammatory response	7169	TPM2	ORPHA:2020
HP:0012647	Abnormal inflammatory response	9200	HACD1	ORPHA:2020
HP:0012647	Abnormal inflammatory response	7170	TPM3	ORPHA:2020
HP:0012647	Abnormal inflammatory response	51776	MAP3K20	ORPHA:2020
HP:0012647	Abnormal inflammatory response	80025	PANK2	ORPHA:216866
HP:0012647	Abnormal inflammatory response	92935	MARS2	OMIM:616430
HP:0012647	Abnormal inflammatory response	4700	NDUFA6	OMIM:618253
HP:0012647	Abnormal inflammatory response	6392	SDHD	OMIM:619167
HP:0012647	Abnormal inflammatory response	10342	TFG	ORPHA:90117
HP:0012647	Abnormal inflammatory response	23007	PLCH1	ORPHA:93925
HP:0012647	Abnormal inflammatory response	2720	GLB1	ORPHA:79255
HP:0012647	Abnormal inflammatory response	1288	COL4A6	ORPHA:1018
HP:0012647	Abnormal inflammatory response	356	FASLG	ORPHA:3261
HP:0012647	Abnormal inflammatory response	9420	CYP7B1	OMIM:613812
HP:0012647	Abnormal inflammatory response	9780	PIEZO1	OMIM:194380
HP:0012647	Abnormal inflammatory response	7174	TPP2	ORPHA:444463
HP:0012647	Abnormal inflammatory response	2990	GUSB	ORPHA:584
HP:0012647	Abnormal inflammatory response	57511	COG6	ORPHA:363523
HP:0012647	Abnormal inflammatory response	83737	ITCH	OMIM:613385
HP:0012647	Abnormal inflammatory response	83737	ITCH	ORPHA:228426
HP:0012647	Abnormal inflammatory response	169792	GLIS3	OMIM:610199
HP:0012647	Abnormal inflammatory response	23729	SHPK	ORPHA:440713
HP:0012647	Abnormal inflammatory response	10166	SLC25A15	ORPHA:415
HP:0012647	Abnormal inflammatory response	9095	TBX19	ORPHA:199296
HP:0012647	Abnormal inflammatory response	5236	PGM1	OMIM:614921
HP:0012647	Abnormal inflammatory response	5297	PI4KA	ORPHA:436252
HP:0012647	Abnormal inflammatory response	57217	TTC7A	ORPHA:436252
HP:0012647	Abnormal inflammatory response	10092	ARPC5	OMIM:620565
HP:0012647	Abnormal inflammatory response	1581	CYP7A1	ORPHA:209902
HP:0012647	Abnormal inflammatory response	84818	IL17RC	ORPHA:1334
HP:0012647	Abnormal inflammatory response	64581	CLEC7A	ORPHA:1334
HP:0012647	Abnormal inflammatory response	10758	TRAF3IP2	ORPHA:1334
HP:0012647	Abnormal inflammatory response	112744	IL17F	ORPHA:1334
HP:0012647	Abnormal inflammatory response	330	BIRC3	ORPHA:52417
HP:0012647	Abnormal inflammatory response	3492	IGH	ORPHA:52417
HP:0012647	Abnormal inflammatory response	56244	BTNL2	OMIM:612387
HP:0012647	Abnormal inflammatory response	56244	BTNL2	ORPHA:797
HP:0012647	Abnormal inflammatory response	55851	PSENEN	OMIM:613736
HP:0012647	Abnormal inflammatory response	5663	PSEN1	OMIM:613737
HP:0012647	Abnormal inflammatory response	9203	ZMYM3	OMIM:301111
HP:0012647	Abnormal inflammatory response	51726	DNAJB11	ORPHA:730
HP:0012647	Abnormal inflammatory response	23193	GANAB	ORPHA:730
HP:0012647	Abnormal inflammatory response	5310	PKD1	ORPHA:730
HP:0012647	Abnormal inflammatory response	5311	PKD2	ORPHA:730
HP:0012647	Abnormal inflammatory response	29880	ALG5	ORPHA:730
HP:0012647	Abnormal inflammatory response	79796	ALG9	ORPHA:730
HP:0012647	Abnormal inflammatory response	80114	BICC1	ORPHA:730
HP:0012647	Abnormal inflammatory response	284252	KCTD1	OMIM:181270
HP:0012647	Abnormal inflammatory response	284252	KCTD1	ORPHA:2036
HP:0012647	Abnormal inflammatory response	4629	MYH11	OMIM:619351
HP:0012647	Abnormal inflammatory response	7498	XDH	OMIM:278300
HP:0012647	Abnormal inflammatory response	2006	ELN	ORPHA:90348
HP:0012647	Abnormal inflammatory response	10516	FBLN5	ORPHA:90348
HP:0012647	Abnormal inflammatory response	10516	FBLN5	ORPHA:90349
HP:0012647	Abnormal inflammatory response	5832	ALDH18A1	ORPHA:90348
HP:0012647	Abnormal inflammatory response	4052	LTBP1	ORPHA:90349
HP:0012647	Abnormal inflammatory response	30008	EFEMP2	ORPHA:90349
HP:0012647	Abnormal inflammatory response	3209	HOXA13	OMIM:140000
HP:0012647	Abnormal inflammatory response	54796	BNC2	ORPHA:93110
HP:0012647	Abnormal inflammatory response	56984	PSMG2	OMIM:619183
HP:0012647	Abnormal inflammatory response	114803	MYSM1	ORPHA:508542
HP:0012647	Abnormal inflammatory response	84868	HAVCR2	OMIM:618398
HP:0012647	Abnormal inflammatory response	84868	HAVCR2	ORPHA:86884
HP:0012647	Abnormal inflammatory response	90268	OTULIN	OMIM:617099
HP:0012647	Abnormal inflammatory response	139818	DOCK11	OMIM:301109
HP:0012647	Abnormal inflammatory response	51816	ADA2	OMIM:615688
HP:0012647	Abnormal inflammatory response	3832	KIF11	ORPHA:2526
HP:0012647	Abnormal inflammatory response	3932	LCK	OMIM:615758
HP:0012647	Abnormal inflammatory response	5777	PTPN6	ORPHA:3243
HP:0012647	Abnormal inflammatory response	10535	RNASEH2A	ORPHA:51
HP:0012647	Abnormal inflammatory response	84153	RNASEH2C	ORPHA:51
HP:0012647	Abnormal inflammatory response	25939	SAMHD1	ORPHA:51
HP:0012647	Abnormal inflammatory response	79621	RNASEH2B	ORPHA:51
HP:0012647	Abnormal inflammatory response	103	ADAR	ORPHA:51
HP:0012647	Abnormal inflammatory response	100147744	RNU7-1	ORPHA:51
HP:0012647	Abnormal inflammatory response	134353	LSM11	ORPHA:51
HP:0012647	Abnormal inflammatory response	3716	JAK1	OMIM:618999
HP:0012647	Abnormal inflammatory response	55243	KIRREL1	OMIM:619201
HP:0012647	Abnormal inflammatory response	8270	LAGE3	OMIM:301006
HP:0012647	Abnormal inflammatory response	25959	KANK2	OMIM:617783
HP:0012647	Abnormal inflammatory response	9663	LPIN2	ORPHA:77297
HP:0012647	Abnormal inflammatory response	64127	NOD2	ORPHA:90340
HP:0012647	Abnormal inflammatory response	6399	TRAPPC2	ORPHA:93284
HP:0012647	Abnormal inflammatory response	9051	PSTPIP1	ORPHA:69126
HP:0012647	Abnormal inflammatory response	3459	IFNGR1	OMIM:209950
HP:0012647	Abnormal inflammatory response	3459	IFNGR1	ORPHA:117
HP:0012647	Abnormal inflammatory response	3593	IL12B	ORPHA:3287
HP:0012647	Abnormal inflammatory response	3106	HLA-B	ORPHA:3287
HP:0012647	Abnormal inflammatory response	3106	HLA-B	ORPHA:117
HP:0012647	Abnormal inflammatory response	6945	MLX	ORPHA:3287
HP:0012647	Abnormal inflammatory response	1493	CTLA4	ORPHA:900
HP:0012647	Abnormal inflammatory response	26191	PTPN22	ORPHA:900
HP:0012647	Abnormal inflammatory response	3115	HLA-DPB1	ORPHA:900
HP:0012647	Abnormal inflammatory response	5657	PRTN3	ORPHA:900
HP:0012647	Abnormal inflammatory response	3113	HLA-DPA1	ORPHA:900
HP:0012647	Abnormal inflammatory response	4982	TNFRSF11B	ORPHA:1416
HP:0012647	Abnormal inflammatory response	56172	ANKH	ORPHA:1416
HP:0012647	Abnormal inflammatory response	149233	IL23R	ORPHA:117
HP:0012647	Abnormal inflammatory response	6775	STAT4	ORPHA:117
HP:0012647	Abnormal inflammatory response	3586	IL10	ORPHA:117
HP:0012647	Abnormal inflammatory response	4210	MEFV	ORPHA:117
HP:0012647	Abnormal inflammatory response	1230	CCR1	ORPHA:117
HP:0012647	Abnormal inflammatory response	355	FAS	ORPHA:117
HP:0012647	Abnormal inflammatory response	3592	IL12A	ORPHA:117
HP:0012647	Abnormal inflammatory response	101928376	IL12A-AS1	ORPHA:117
HP:0012647	Abnormal inflammatory response	7099	TLR4	ORPHA:117
HP:0012647	Abnormal inflammatory response	720	C4A	ORPHA:117
HP:0012647	Abnormal inflammatory response	337867	UBAC2	ORPHA:117
HP:0012647	Abnormal inflammatory response	51752	ERAP1	ORPHA:117
HP:0012647	Abnormal inflammatory response	8302	KLRC4	ORPHA:117
HP:0012647	Abnormal inflammatory response	3588	IL10RB	OMIM:612567
HP:0012647	Abnormal inflammatory response	3872	KRT17	OMIM:167210
HP:0012647	Abnormal inflammatory response	7156	TOP3A	OMIM:618097
HP:0012647	Abnormal inflammatory response	8558	CDK10	OMIM:617694
HP:0012647	Abnormal inflammatory response	9968	MED12	OMIM:301068
HP:0012647	Abnormal inflammatory response	215	ABCD1	ORPHA:369942
HP:0012647	Abnormal inflammatory response	10134	BCAP31	ORPHA:369942
HP:0012647	Abnormal inflammatory response	9742	IFT140	OMIM:266920
HP:0012647	Abnormal inflammatory response	50615	IL21R	OMIM:615207
HP:0012647	Abnormal inflammatory response	57539	WDR35	OMIM:613610
HP:0012647	Abnormal inflammatory response	26525	IL36RN	OMIM:614204
HP:0012647	Abnormal inflammatory response	617	BCS1L	OMIM:124000
HP:0012647	Abnormal inflammatory response	199221	DZIP1L	ORPHA:731
HP:0012647	Abnormal inflammatory response	5314	PKHD1	ORPHA:731
HP:0012647	Abnormal inflammatory response	5314	PKHD1	ORPHA:53035
HP:0012647	Abnormal inflammatory response	8318	CDC45	OMIM:617063
HP:0012647	Abnormal inflammatory response	9076	CLDN1	OMIM:607626
HP:0012647	Abnormal inflammatory response	51473	DCDC2	OMIM:617394
HP:0012647	Abnormal inflammatory response	113220	KIF12	OMIM:619662
HP:0012647	Abnormal inflammatory response	3939	LDHA	ORPHA:284426
HP:0012647	Abnormal inflammatory response	54795	TRPM4	OMIM:618531
HP:0012647	Abnormal inflammatory response	219972	MPEG1	OMIM:619223
HP:0012647	Abnormal inflammatory response	84342	COG8	OMIM:611182
HP:0012647	Abnormal inflammatory response	8547	FCN3	OMIM:613860
HP:0012647	Abnormal inflammatory response	2271	FH	OMIM:606812
HP:0012647	Abnormal inflammatory response	84992	PIGY	OMIM:616809
HP:0012647	Abnormal inflammatory response	50619	DEF6	OMIM:619573
HP:0012647	Abnormal inflammatory response	5950	RBP4	OMIM:615147
HP:0012647	Abnormal inflammatory response	23385	NCSTN	OMIM:142690
HP:0012647	Abnormal inflammatory response	56983	POGLUT1	ORPHA:79145
HP:0012647	Abnormal inflammatory response	23509	POFUT1	ORPHA:79145
HP:0012647	Abnormal inflammatory response	171023	ASXL1	ORPHA:98850
HP:0012647	Abnormal inflammatory response	54790	TET2	ORPHA:98850
HP:0012647	Abnormal inflammatory response	867	CBL	ORPHA:98850
HP:0012647	Abnormal inflammatory response	861	RUNX1	ORPHA:98850
HP:0012647	Abnormal inflammatory response	6427	SRSF2	ORPHA:98850
HP:0012647	Abnormal inflammatory response	2038	EPB42	ORPHA:822
HP:0012647	Abnormal inflammatory response	6521	SLC4A1	ORPHA:822
HP:0012647	Abnormal inflammatory response	6710	SPTB	ORPHA:822
HP:0012647	Abnormal inflammatory response	6708	SPTA1	ORPHA:822
HP:0012647	Abnormal inflammatory response	286	ANK1	ORPHA:822
HP:0012647	Abnormal inflammatory response	25942	SIN3A	OMIM:613406
HP:0012647	Abnormal inflammatory response	55719	SLF2	OMIM:620184
HP:0012647	Abnormal inflammatory response	3684	ITGAM	ORPHA:536
HP:0012647	Abnormal inflammatory response	221895	JAZF1	ORPHA:536
HP:0012647	Abnormal inflammatory response	7292	TNFSF4	ORPHA:536
HP:0012647	Abnormal inflammatory response	640	BLK	ORPHA:536
HP:0012647	Abnormal inflammatory response	55024	BANK1	ORPHA:536
HP:0012647	Abnormal inflammatory response	3500	IGHG1	ORPHA:536
HP:0012647	Abnormal inflammatory response	5133	PDCD1	ORPHA:536
HP:0012647	Abnormal inflammatory response	2113	ETS1	ORPHA:536
HP:0012647	Abnormal inflammatory response	10318	TNIP1	ORPHA:536
HP:0012647	Abnormal inflammatory response	7332	UBE2L3	ORPHA:536
HP:0012647	Abnormal inflammatory response	79932	KIAA0319L	ORPHA:536
HP:0012647	Abnormal inflammatory response	4204	MECP2	ORPHA:536
HP:0012647	Abnormal inflammatory response	3123	HLA-DRB1	ORPHA:536
HP:0012647	Abnormal inflammatory response	721	C4B	ORPHA:536
HP:0012647	Abnormal inflammatory response	51284	TLR7	ORPHA:536
HP:0012647	Abnormal inflammatory response	54899	PXK	ORPHA:536
HP:0012647	Abnormal inflammatory response	7128	TNFAIP3	ORPHA:536
HP:0012647	Abnormal inflammatory response	857	CAV1	OMIM:606721
HP:0012647	Abnormal inflammatory response	4558	MT-TF	ORPHA:550
HP:0012647	Abnormal inflammatory response	4572	MT-TQ	ORPHA:550
HP:0012647	Abnormal inflammatory response	4513	MT-CO2	ORPHA:550
HP:0012647	Abnormal inflammatory response	4578	MT-TW	ORPHA:550
HP:0012647	Abnormal inflammatory response	4540	MT-ND5	ORPHA:550
HP:0012647	Abnormal inflammatory response	4541	MT-ND6	ORPHA:550
HP:0012647	Abnormal inflammatory response	4535	MT-ND1	ORPHA:550
HP:0012647	Abnormal inflammatory response	4538	MT-ND4	ORPHA:550
HP:0012647	Abnormal inflammatory response	4567	MT-TL1	ORPHA:550
HP:0012647	Abnormal inflammatory response	4574	MT-TS1	ORPHA:550
HP:0012647	Abnormal inflammatory response	4575	MT-TS2	ORPHA:550
HP:0012647	Abnormal inflammatory response	4564	MT-TH	ORPHA:550
HP:0012647	Abnormal inflammatory response	55503	TRPV6	ORPHA:676
HP:0012647	Abnormal inflammatory response	1357	CPA1	ORPHA:676
HP:0012647	Abnormal inflammatory response	27178	IL37	OMIM:619398
HP:0012647	Abnormal inflammatory response	29775	CARD10	OMIM:619632
HP:0012647	Abnormal inflammatory response	60468	BACH2	OMIM:618394
HP:0012647	Abnormal inflammatory response	55765	INAVA	OMIM:618077
HP:0012647	Abnormal inflammatory response	96459	FNIP1	OMIM:619705
HP:0012647	Abnormal inflammatory response	3587	IL10RA	OMIM:613148
HP:0012647	Abnormal inflammatory response	2984	GUCY2C	OMIM:614616
HP:0012647	Abnormal inflammatory response	2623	GATA1	ORPHA:79277
HP:0012647	Abnormal inflammatory response	7389	UROD	ORPHA:95159
HP:0012647	Abnormal inflammatory response	3105	HLA-A	ORPHA:179
HP:0012647	Abnormal inflammatory response	2261	FGFR3	ORPHA:93262
HP:0012647	Abnormal inflammatory response	8626	TP63	ORPHA:1896
HP:0012647	Abnormal inflammatory response	114548	NLRP3	ORPHA:1451
HP:0012647	Abnormal inflammatory response	224	ALDH3A2	ORPHA:816
HP:0012647	Abnormal inflammatory response	1776	DNASE1L3	ORPHA:36412
HP:0012647	Abnormal inflammatory response	8314	BAP1	ORPHA:39044
HP:0012647	Abnormal inflammatory response	57105	CYSLTR2	ORPHA:39044
HP:0012647	Abnormal inflammatory response	2776	GNAQ	ORPHA:39044
HP:0012647	Abnormal inflammatory response	23451	SF3B1	ORPHA:39044
HP:0012647	Abnormal inflammatory response	7132	TNFRSF1A	ORPHA:32960
HP:0012647	Abnormal inflammatory response	3655	ITGA6	ORPHA:79403
HP:0012647	Abnormal inflammatory response	3691	ITGB4	ORPHA:79403
HP:0012647	Abnormal inflammatory response	340061	STING1	OMIM:615934
HP:0012647	Abnormal inflammatory response	825	CAPN3	OMIM:253600
HP:0012647	Abnormal inflammatory response	3181	HNRNPA2B1	OMIM:615422
HP:0012647	Abnormal inflammatory response	84033	OBSCN	ORPHA:99845
HP:0012647	Abnormal inflammatory response	23175	LPIN1	ORPHA:99845
HP:0012647	Abnormal inflammatory response	4512	MT-CO1	ORPHA:99845
HP:0012647	Abnormal inflammatory response	4514	MT-CO3	ORPHA:99845
HP:0012647	Abnormal inflammatory response	3662	IRF4	ORPHA:3452
HP:0012647	Abnormal inflammatory response	3908	LAMA2	ORPHA:258
HP:0012647	Abnormal inflammatory response	4221	MEN1	OMIM:131100
HP:0012647	Abnormal inflammatory response	22900	CARD8	OMIM:619079
HP:0012647	Abnormal inflammatory response	60684	TRAPPC11	OMIM:615356
HP:0012647	Abnormal inflammatory response	3376	IARS1	ORPHA:541423
HP:0012647	Abnormal inflammatory response	81031	SLC2A10	ORPHA:3342
HP:0012647	Abnormal inflammatory response	9719	ADAMTSL2	ORPHA:1901
HP:0012647	Abnormal inflammatory response	9509	ADAMTS2	ORPHA:1901
HP:0012647	Abnormal inflammatory response	2887	GRB10	ORPHA:96182
HP:0012647	Abnormal inflammatory response	2743	GLRB	ORPHA:3197
HP:0012647	Abnormal inflammatory response	2741	GLRA1	ORPHA:3197
HP:0012647	Abnormal inflammatory response	10243	GPHN	ORPHA:3197
HP:0012647	Abnormal inflammatory response	84896	ATAD1	ORPHA:3197
HP:0012647	Abnormal inflammatory response	9152	SLC6A5	ORPHA:3197
HP:0012647	Abnormal inflammatory response	7543	ZFX	OMIM:301118
HP:0012647	Abnormal inflammatory response	6812	STXBP1	ORPHA:495818
HP:0012647	Abnormal inflammatory response	5723	PSPH	ORPHA:79350
HP:0012647	Abnormal inflammatory response	26227	PHGDH	ORPHA:79351
HP:0012647	Abnormal inflammatory response	1027	CDKN1B	ORPHA:276152
HP:0012647	Abnormal inflammatory response	8651	SOCS1	OMIM:619375
HP:0012647	Abnormal inflammatory response	7038	TG	OMIM:608175
HP:0012647	Abnormal inflammatory response	57623	ZFAT	OMIM:608175
HP:0012647	Abnormal inflammatory response	22861	NLRP1	OMIM:617388
HP:0012647	Abnormal inflammatory response	5290	PIK3CA	OMIM:615108
HP:0012647	Abnormal inflammatory response	207	AKT1	OMIM:615109
HP:0012647	Abnormal inflammatory response	3559	IL2RA	OMIM:606367
HP:0012647	Abnormal inflammatory response	5428	POLG	ORPHA:254886
HP:0012647	Abnormal inflammatory response	9692	PRORP	OMIM:619737
HP:0012647	Abnormal inflammatory response	7319	UBE2A	ORPHA:163956
HP:0012647	Abnormal inflammatory response	55630	SLC39A4	ORPHA:37
HP:0012647	Abnormal inflammatory response	1508	CTSB	ORPHA:50943
HP:0012647	Abnormal inflammatory response	23600	AMACR	ORPHA:79095
HP:0012647	Abnormal inflammatory response	23600	AMACR	OMIM:214950
HP:0012647	Abnormal inflammatory response	80270	HSD3B7	OMIM:607765
HP:0012647	Abnormal inflammatory response	63894	VIPAS39	OMIM:613404
HP:0012647	Abnormal inflammatory response	26276	VPS33B	OMIM:208085
HP:0012647	Abnormal inflammatory response	6718	AKR1D1	ORPHA:79303
HP:0012647	Abnormal inflammatory response	6499	SKIC2	OMIM:614602
HP:0012647	Abnormal inflammatory response	4088	SMAD3	OMIM:613795
HP:0012647	Abnormal inflammatory response	7046	TGFBR1	OMIM:609192
HP:0012647	Abnormal inflammatory response	7048	TGFBR2	OMIM:610168
HP:0012647	Abnormal inflammatory response	7042	TGFB2	OMIM:614816
HP:0012647	Abnormal inflammatory response	7043	TGFB3	OMIM:615582
HP:0012647	Abnormal inflammatory response	1777	DNASE2	OMIM:619858
HP:0012649	Increased inflammatory response	3081	HGD	ORPHA:56
HP:0012649	Increased inflammatory response	695	BTK	OMIM:300755
HP:0012649	Increased inflammatory response	695	BTK	OMIM:307200
HP:0012649	Increased inflammatory response	7374	UNG	OMIM:608106
HP:0012649	Increased inflammatory response	5696	PSMB8	OMIM:256040
HP:0012649	Increased inflammatory response	4067	LYN	OMIM:620376
HP:0012649	Increased inflammatory response	3514	IGKC	ORPHA:183675
HP:0012649	Increased inflammatory response	3501	IGHG2	ORPHA:183675
HP:0012649	Increased inflammatory response	144811	LACC1	ORPHA:85414
HP:0012649	Increased inflammatory response	3569	IL6	ORPHA:85414
HP:0012649	Increased inflammatory response	3426	CFI	OMIM:610984
HP:0012649	Increased inflammatory response	81494	CFHR5	OMIM:614809
HP:0012649	Increased inflammatory response	4311	MME	ORPHA:69063
HP:0012649	Increased inflammatory response	3913	LAMB2	OMIM:614199
HP:0012649	Increased inflammatory response	6892	TAPBP	OMIM:620814
HP:0012649	Increased inflammatory response	57728	WDR19	OMIM:614376
HP:0012649	Increased inflammatory response	81603	TRIM8	OMIM:619428
HP:0012649	Increased inflammatory response	7369	UMOD	OMIM:162000
HP:0012649	Increased inflammatory response	4613	MYCN	ORPHA:391641
HP:0012649	Increased inflammatory response	1286	COL4A4	OMIM:203780
HP:0012649	Increased inflammatory response	4010	LMX1B	ORPHA:2614
HP:0012649	Increased inflammatory response	1285	COL4A3	OMIM:104200
HP:0012649	Increased inflammatory response	6696	SPP1	ORPHA:93552
HP:0012649	Increased inflammatory response	6303	SAT1	ORPHA:93552
HP:0012649	Increased inflammatory response	3654	IRAK1	ORPHA:93552
HP:0012649	Increased inflammatory response	7840	ALMS1	OMIM:203800
HP:0012649	Increased inflammatory response	331	XIAP	ORPHA:538934
HP:0012649	Increased inflammatory response	3162	HMOX1	OMIM:614034
HP:0012649	Increased inflammatory response	2212	FCGR2A	OMIM:152700
HP:0012649	Increased inflammatory response	2213	FCGR2B	OMIM:152700
HP:0012649	Increased inflammatory response	11277	TREX1	OMIM:152700
HP:0012649	Increased inflammatory response	1773	DNASE1	OMIM:152700
HP:0012649	Increased inflammatory response	65082	VPS33A	OMIM:617303
HP:0012649	Increased inflammatory response	843	CASP10	OMIM:603909
HP:0012649	Increased inflammatory response	5340	PLG	OMIM:217090
HP:0012649	Increased inflammatory response	4627	MYH9	ORPHA:182050
HP:0012649	Increased inflammatory response	1287	COL4A5	OMIM:301050
HP:0012649	Increased inflammatory response	977	CD151	OMIM:609057
HP:0012649	Increased inflammatory response	847	CAT	ORPHA:926
HP:0012649	Increased inflammatory response	100	ADA	ORPHA:277
HP:0012649	Increased inflammatory response	100	ADA	OMIM:102700
HP:0012649	Increased inflammatory response	1789	DNMT3B	OMIM:242860
HP:0012649	Increased inflammatory response	4683	NBN	OMIM:251260
HP:0012649	Increased inflammatory response	2332	FMR1	ORPHA:908
HP:0012649	Increased inflammatory response	4860	PNP	OMIM:613179
HP:0012649	Increased inflammatory response	3659	IRF1	OMIM:620668
HP:0012649	Increased inflammatory response	7454	WAS	ORPHA:906
HP:0012649	Increased inflammatory response	7456	WIPF1	ORPHA:906
HP:0012649	Increased inflammatory response	3561	IL2RG	OMIM:312863
HP:0012649	Increased inflammatory response	6804	STX1A	ORPHA:586
HP:0012649	Increased inflammatory response	2947	GSTM3	ORPHA:586
HP:0012649	Increased inflammatory response	7040	TGFB1	ORPHA:586
HP:0012649	Increased inflammatory response	2729	GCLC	ORPHA:586
HP:0012649	Increased inflammatory response	1084	CEACAM3	ORPHA:586
HP:0012649	Increased inflammatory response	6556	SLC11A1	ORPHA:586
HP:0012649	Increased inflammatory response	51164	DCTN4	ORPHA:586
HP:0012649	Increased inflammatory response	3783	KCNN4	ORPHA:586
HP:0012649	Increased inflammatory response	4282	MIF	ORPHA:586
HP:0012649	Increased inflammatory response	1909	EDNRA	ORPHA:586
HP:0012649	Increased inflammatory response	6550	SLC9A3	ORPHA:586
HP:0012649	Increased inflammatory response	115019	SLC26A9	ORPHA:586
HP:0012649	Increased inflammatory response	3077	HFE	ORPHA:586
HP:0012649	Increased inflammatory response	11254	SLC6A14	ORPHA:586
HP:0012649	Increased inflammatory response	5265	SERPINA1	ORPHA:586
HP:0012649	Increased inflammatory response	1080	CFTR	ORPHA:586
HP:0012649	Increased inflammatory response	22802	CLCA4	ORPHA:586
HP:0012649	Increased inflammatory response	4680	CEACAM6	ORPHA:586
HP:0012649	Increased inflammatory response	472	ATM	OMIM:208900
HP:0012649	Increased inflammatory response	8456	FOXN1	ORPHA:83471
HP:0012649	Increased inflammatory response	1536	CYBB	ORPHA:379
HP:0012649	Increased inflammatory response	4688	NCF2	ORPHA:379
HP:0012649	Increased inflammatory response	1535	CYBA	ORPHA:379
HP:0012649	Increased inflammatory response	4689	NCF4	ORPHA:379
HP:0012649	Increased inflammatory response	653361	NCF1	ORPHA:379
HP:0012649	Increased inflammatory response	79415	CYBC1	ORPHA:379
HP:0012649	Increased inflammatory response	1991	ELANE	ORPHA:2686
HP:0012649	Increased inflammatory response	134218	DNAJC21	ORPHA:811
HP:0012649	Increased inflammatory response	79631	EFL1	ORPHA:811
HP:0012649	Increased inflammatory response	51119	SBDS	ORPHA:811
HP:0012649	Increased inflammatory response	5994	RFXAP	ORPHA:572
HP:0012649	Increased inflammatory response	4261	CIITA	ORPHA:572
HP:0012649	Increased inflammatory response	5993	RFX5	ORPHA:572
HP:0012649	Increased inflammatory response	8625	RFXANK	ORPHA:572
HP:0012649	Increased inflammatory response	4256	MGP	OMIM:245150
HP:0012649	Increased inflammatory response	5692	PSMB4	OMIM:617591
HP:0012649	Increased inflammatory response	3394	IRF8	OMIM:226990
HP:0012649	Increased inflammatory response	7852	CXCR4	ORPHA:51636
HP:0012649	Increased inflammatory response	4763	NF1	ORPHA:363700
HP:0012649	Increased inflammatory response	860	RUNX2	ORPHA:1452
HP:0012649	Increased inflammatory response	51314	NME8	OMIM:610852
HP:0012649	Increased inflammatory response	352909	DNAAF3	OMIM:606763
HP:0012649	Increased inflammatory response	3321	IGSF3	OMIM:149700
HP:0012649	Increased inflammatory response	6929	TCF3	ORPHA:33110
HP:0012649	Increased inflammatory response	7922	SLC39A7	ORPHA:33110
HP:0012649	Increased inflammatory response	973	CD79A	ORPHA:33110
HP:0012649	Increased inflammatory response	974	CD79B	ORPHA:33110
HP:0012649	Increased inflammatory response	6688	SPI1	ORPHA:33110
HP:0012649	Increased inflammatory response	3543	IGLL1	ORPHA:33110
HP:0012649	Increased inflammatory response	3507	IGHM	ORPHA:33110
HP:0012649	Increased inflammatory response	29760	BLNK	ORPHA:33110
HP:0012649	Increased inflammatory response	5295	PIK3R1	ORPHA:33110
HP:0012649	Increased inflammatory response	56262	LRRC8A	ORPHA:33110
HP:0012649	Increased inflammatory response	79158	GNPTAB	ORPHA:576
HP:0012649	Increased inflammatory response	2263	FGFR2	ORPHA:87
HP:0012649	Increased inflammatory response	915	CD3D	ORPHA:169160
HP:0012649	Increased inflammatory response	916	CD3E	ORPHA:169160
HP:0012649	Increased inflammatory response	919	CD247	ORPHA:169160
HP:0012649	Increased inflammatory response	64421	DCLRE1C	ORPHA:275
HP:0012649	Increased inflammatory response	64421	DCLRE1C	OMIM:602450
HP:0012649	Increased inflammatory response	92482	BBIP1	ORPHA:110
HP:0012649	Increased inflammatory response	80184	CEP290	ORPHA:110
HP:0012649	Increased inflammatory response	11020	IFT27	ORPHA:110
HP:0012649	Increased inflammatory response	582	BBS1	ORPHA:110
HP:0012649	Increased inflammatory response	49855	SCAPER	ORPHA:110
HP:0012649	Increased inflammatory response	4867	NPHP1	ORPHA:110
HP:0012649	Increased inflammatory response	51057	WDPCP	ORPHA:110
HP:0012649	Increased inflammatory response	132320	SCLT1	ORPHA:110
HP:0012649	Increased inflammatory response	27241	BBS9	ORPHA:110
HP:0012649	Increased inflammatory response	84984	CEP19	ORPHA:110
HP:0012649	Increased inflammatory response	22954	TRIM32	ORPHA:110
HP:0012649	Increased inflammatory response	54903	MKS1	ORPHA:110
HP:0012649	Increased inflammatory response	79738	BBS10	ORPHA:110
HP:0012649	Increased inflammatory response	123016	TTC8	ORPHA:110
HP:0012649	Increased inflammatory response	26160	IFT172	ORPHA:110
HP:0012649	Increased inflammatory response	583	BBS2	ORPHA:110
HP:0012649	Increased inflammatory response	585	BBS4	ORPHA:110
HP:0012649	Increased inflammatory response	8195	MKKS	ORPHA:110
HP:0012649	Increased inflammatory response	54585	LZTFL1	ORPHA:110
HP:0012649	Increased inflammatory response	55212	BBS7	ORPHA:110
HP:0012649	Increased inflammatory response	166379	BBS12	ORPHA:110
HP:0012649	Increased inflammatory response	10806	SDCCAG8	ORPHA:110
HP:0012649	Increased inflammatory response	157657	CFAP418	ORPHA:110
HP:0012649	Increased inflammatory response	84100	ARL6	ORPHA:110
HP:0012649	Increased inflammatory response	129880	BBS5	ORPHA:110
HP:0012649	Increased inflammatory response	80173	IFT74	ORPHA:110
HP:0012649	Increased inflammatory response	6103	RPGR	OMIM:300455
HP:0012649	Increased inflammatory response	64324	NSD1	OMIM:117550
HP:0012649	Increased inflammatory response	152110	NEK10	OMIM:618781
HP:0012649	Increased inflammatory response	6711	SPTBN1	OMIM:619475
HP:0012649	Increased inflammatory response	1387	CREBBP	ORPHA:353277
HP:0012649	Increased inflammatory response	1387	CREBBP	ORPHA:353281
HP:0012649	Increased inflammatory response	92579	G6PC3	OMIM:612541
HP:0012649	Increased inflammatory response	25836	NIPBL	OMIM:122470
HP:0012649	Increased inflammatory response	3575	IL7R	OMIM:608971
HP:0012649	Increased inflammatory response	10312	TCIRG1	ORPHA:667
HP:0012649	Increased inflammatory response	1186	CLCN7	ORPHA:667
HP:0012649	Increased inflammatory response	29887	SNX10	ORPHA:667
HP:0012649	Increased inflammatory response	8600	TNFSF11	ORPHA:667
HP:0012649	Increased inflammatory response	11011	TLK2	OMIM:618050
HP:0012649	Increased inflammatory response	641	BLM	ORPHA:125
HP:0012649	Increased inflammatory response	4125	MAN2B1	ORPHA:309282
HP:0012649	Increased inflammatory response	5896	RAG1	OMIM:601457
HP:0012649	Increased inflammatory response	5897	RAG2	OMIM:601457
HP:0012649	Increased inflammatory response	23495	TNFRSF13B	ORPHA:1572
HP:0012649	Increased inflammatory response	4790	NFKB1	ORPHA:1572
HP:0012649	Increased inflammatory response	4791	NFKB2	ORPHA:1572
HP:0012649	Increased inflammatory response	115650	TNFRSF13C	ORPHA:1572
HP:0012649	Increased inflammatory response	1380	CR2	ORPHA:1572
HP:0012649	Increased inflammatory response	8742	TNFSF12	ORPHA:1572
HP:0012649	Increased inflammatory response	930	CD19	ORPHA:1572
HP:0012649	Increased inflammatory response	29851	ICOS	ORPHA:1572
HP:0012649	Increased inflammatory response	931	MS4A1	ORPHA:1572
HP:0012649	Increased inflammatory response	975	CD81	ORPHA:1572
HP:0012649	Increased inflammatory response	359948	IRF2BP2	ORPHA:1572
HP:0012649	Increased inflammatory response	2033	EP300	ORPHA:353284
HP:0012649	Increased inflammatory response	165918	RNF168	ORPHA:420741
HP:0012649	Increased inflammatory response	339829	CCDC39	OMIM:613807
HP:0012649	Increased inflammatory response	3590	IL11RA	OMIM:614188
HP:0012649	Increased inflammatory response	652	BMP4	ORPHA:828
HP:0012649	Increased inflammatory response	7461	CLIP2	ORPHA:904
HP:0012649	Increased inflammatory response	84277	DNAJC30	ORPHA:904
HP:0012649	Increased inflammatory response	8468	FKBP6	ORPHA:904
HP:0012649	Increased inflammatory response	5982	RFC2	ORPHA:904
HP:0012649	Increased inflammatory response	2969	GTF2I	ORPHA:904
HP:0012649	Increased inflammatory response	3984	LIMK1	ORPHA:904
HP:0012649	Increased inflammatory response	9569	GTF2IRD1	ORPHA:904
HP:0012649	Increased inflammatory response	155382	VPS37D	ORPHA:904
HP:0012649	Increased inflammatory response	155368	METTL27	ORPHA:904
HP:0012649	Increased inflammatory response	114049	BUD23	ORPHA:904
HP:0012649	Increased inflammatory response	7458	EIF4H	ORPHA:904
HP:0012649	Increased inflammatory response	84163	GTF2IRD2	ORPHA:904
HP:0012649	Increased inflammatory response	26608	TBL2	ORPHA:904
HP:0012649	Increased inflammatory response	135886	TMEM270	ORPHA:904
HP:0012649	Increased inflammatory response	9031	BAZ1B	ORPHA:904
HP:0012649	Increased inflammatory response	10297	APC2	ORPHA:821
HP:0012649	Increased inflammatory response	4487	MSX1	ORPHA:199302
HP:0012649	Increased inflammatory response	5818	NECTIN1	ORPHA:199302
HP:0012649	Increased inflammatory response	3664	IRF6	ORPHA:199302
HP:0012649	Increased inflammatory response	6872	TAF1	OMIM:300966
HP:0012649	Increased inflammatory response	6872	TAF1	ORPHA:480907
HP:0012649	Increased inflammatory response	29123	ANKRD11	ORPHA:261250
HP:0012649	Increased inflammatory response	8085	KMT2D	ORPHA:2322
HP:0012649	Increased inflammatory response	7403	KDM6A	ORPHA:2322
HP:0012649	Increased inflammatory response	81858	SHARPIN	OMIM:620795
HP:0012649	Increased inflammatory response	10743	RAI1	OMIM:182290
HP:0012649	Increased inflammatory response	23483	TGDS	ORPHA:1388
HP:0012649	Increased inflammatory response	7994	KAT6A	OMIM:616268
HP:0012649	Increased inflammatory response	64359	NXN	ORPHA:1507
HP:0012649	Increased inflammatory response	4920	ROR2	ORPHA:1507
HP:0012649	Increased inflammatory response	1312	COMT	ORPHA:567
HP:0012649	Increased inflammatory response	221037	JMJD1C	ORPHA:567
HP:0012649	Increased inflammatory response	2812	GP1BB	ORPHA:567
HP:0012649	Increased inflammatory response	6239	RREB1	ORPHA:567
HP:0012649	Increased inflammatory response	7290	HIRA	ORPHA:567
HP:0012649	Increased inflammatory response	9632	SEC24C	ORPHA:567
HP:0012649	Increased inflammatory response	7353	UFD1	ORPHA:567
HP:0012649	Increased inflammatory response	421	ARVCF	ORPHA:567
HP:0012649	Increased inflammatory response	8604	SLC25A12	OMIM:612949
HP:0012649	Increased inflammatory response	9496	TBX4	ORPHA:261279
HP:0012649	Increased inflammatory response	10815	CPLX1	ORPHA:280
HP:0012649	Increased inflammatory response	54872	PIGG	ORPHA:280
HP:0012649	Increased inflammatory response	7469	NELFA	ORPHA:280
HP:0012649	Increased inflammatory response	1487	CTBP1	ORPHA:280
HP:0012649	Increased inflammatory response	3954	LETM1	ORPHA:280
HP:0012649	Increased inflammatory response	7468	NSD2	ORPHA:280
HP:0012649	Increased inflammatory response	7161	TP73	OMIM:619466
HP:0012649	Increased inflammatory response	146206	CARMIL2	OMIM:618131
HP:0012649	Increased inflammatory response	2783	GNB2	OMIM:619503
HP:0012649	Increased inflammatory response	175	AGA	ORPHA:93
HP:0012649	Increased inflammatory response	204	AK2	ORPHA:33355
HP:0012649	Increased inflammatory response	151516	ASPRV1	ORPHA:313
HP:0012649	Increased inflammatory response	242	ALOX12B	ORPHA:313
HP:0012649	Increased inflammatory response	126410	CYP4F22	ORPHA:313
HP:0012649	Increased inflammatory response	6820	SULT2B1	ORPHA:313
HP:0012649	Increased inflammatory response	26154	ABCA12	ORPHA:313
HP:0012649	Increased inflammatory response	643418	LIPN	ORPHA:313
HP:0012649	Increased inflammatory response	59344	ALOXE3	ORPHA:313
HP:0012649	Increased inflammatory response	348938	NIPAL4	ORPHA:313
HP:0012649	Increased inflammatory response	121214	SDR9C7	ORPHA:313
HP:0012649	Increased inflammatory response	7051	TGM1	ORPHA:313
HP:0012649	Increased inflammatory response	3071	NCKAP1L	OMIM:618982
HP:0012649	Increased inflammatory response	8367	H4C5	OMIM:619950
HP:0012649	Increased inflammatory response	2070	EYA4	ORPHA:217622
HP:0012649	Increased inflammatory response	64682	ANAPC1	OMIM:618625
HP:0012649	Increased inflammatory response	9839	ZEB2	OMIM:235730
HP:0012649	Increased inflammatory response	9839	ZEB2	ORPHA:261552
HP:0012649	Increased inflammatory response	9839	ZEB2	ORPHA:261537
HP:0012649	Increased inflammatory response	80232	WDR26	ORPHA:513456
HP:0012649	Increased inflammatory response	80232	WDR26	OMIM:617616
HP:0012649	Increased inflammatory response	9578	CDC42BPB	OMIM:619841
HP:0012649	Increased inflammatory response	57589	RIC1	ORPHA:199306
HP:0012649	Increased inflammatory response	1739	DLG1	ORPHA:199306
HP:0012649	Increased inflammatory response	999	CDH1	ORPHA:199306
HP:0012649	Increased inflammatory response	5156	PDGFRA	ORPHA:199306
HP:0012649	Increased inflammatory response	1748	DLX4	ORPHA:199306
HP:0012649	Increased inflammatory response	22837	COBLL1	ORPHA:199306
HP:0012649	Increased inflammatory response	54848	ARHGEF38	ORPHA:199306
HP:0012649	Increased inflammatory response	9411	ARHGAP29	ORPHA:199306
HP:0012649	Increased inflammatory response	51111	KMT5B	OMIM:617788
HP:0012649	Increased inflammatory response	2314	FLII	ORPHA:819
HP:0012649	Increased inflammatory response	23096	IQSEC2	ORPHA:819
HP:0012649	Increased inflammatory response	10522	DEAF1	ORPHA:819
HP:0012649	Increased inflammatory response	144568	A2ML1	OMIM:166760
HP:0012649	Increased inflammatory response	1301	COL11A1	OMIM:154780
HP:0012649	Increased inflammatory response	56992	KIF15	ORPHA:261323
HP:0012649	Increased inflammatory response	7314	UBB	ORPHA:155878
HP:0012649	Increased inflammatory response	7314	UBB	ORPHA:99772
HP:0012649	Increased inflammatory response	57822	GRHL3	ORPHA:155878
HP:0012649	Increased inflammatory response	57822	GRHL3	ORPHA:99772
HP:0012649	Increased inflammatory response	284058	KANSL1	ORPHA:363958
HP:0012649	Increased inflammatory response	284058	KANSL1	ORPHA:363965
HP:0012649	Increased inflammatory response	25885	POLR1A	OMIM:616462
HP:0012649	Increased inflammatory response	80204	FBXO11	OMIM:618089
HP:0012649	Increased inflammatory response	6786	STIM1	OMIM:612783
HP:0012649	Increased inflammatory response	3572	IL6ST	OMIM:618523
HP:0012649	Increased inflammatory response	1717	DHCR7	OMIM:270400
HP:0012649	Increased inflammatory response	28755	TRAC	OMIM:615387
HP:0012649	Increased inflammatory response	6885	MAP3K7	OMIM:157800
HP:0012649	Increased inflammatory response	83879	CDCA7	OMIM:616910
HP:0012649	Increased inflammatory response	3425	IDUA	OMIM:607014
HP:0012649	Increased inflammatory response	26834	RNU4-2	OMIM:620851
HP:0012649	Increased inflammatory response	54888	NSUN2	ORPHA:235
HP:0012649	Increased inflammatory response	56006	SMG9	OMIM:619995
HP:0012649	Increased inflammatory response	8260	NAA10	OMIM:309800
HP:0012649	Increased inflammatory response	8260	NAA10	OMIM:300855
HP:0012649	Increased inflammatory response	23126	POGZ	OMIM:616364
HP:0012649	Increased inflammatory response	6135	RPL11	OMIM:612562
HP:0012649	Increased inflammatory response	8364	H4C3	OMIM:619758
HP:0012649	Increased inflammatory response	27086	FOXP1	ORPHA:391372
HP:0012649	Increased inflammatory response	5594	MAPK1	OMIM:619087
HP:0012649	Increased inflammatory response	5971	RELB	OMIM:617585
HP:0012649	Increased inflammatory response	113179	ADAT3	OMIM:615286
HP:0012649	Increased inflammatory response	113179	ADAT3	ORPHA:363528
HP:0012649	Increased inflammatory response	917	CD3G	OMIM:615607
HP:0012649	Increased inflammatory response	51085	MLXIPL	OMIM:194050
HP:0012649	Increased inflammatory response	3373	HYAL1	OMIM:601492
HP:0012649	Increased inflammatory response	2535	FZD2	OMIM:164745
HP:0012649	Increased inflammatory response	7030	TFE3	OMIM:301066
HP:0012649	Increased inflammatory response	3978	LIG1	OMIM:619774
HP:0012649	Increased inflammatory response	3423	IDS	OMIM:309900
HP:0012649	Increased inflammatory response	6603	SMARCD2	OMIM:617475
HP:0012649	Increased inflammatory response	84522	JAGN1	OMIM:616022
HP:0012649	Increased inflammatory response	3930	LBR	OMIM:169400
HP:0012649	Increased inflammatory response	51311	TLR8	OMIM:301078
HP:0012649	Increased inflammatory response	2742	GLRA2	OMIM:301076
HP:0012649	Increased inflammatory response	55023	PHIP	ORPHA:589905
HP:0012649	Increased inflammatory response	29072	SETD2	OMIM:616831
HP:0012649	Increased inflammatory response	7068	THRB	ORPHA:566243
HP:0012649	Increased inflammatory response	2316	FLNA	OMIM:309350
HP:0012649	Increased inflammatory response	1642	DDB1	OMIM:619426
HP:0012649	Increased inflammatory response	5908	RAP1B	OMIM:620654
HP:0012649	Increased inflammatory response	388015	RTL1	ORPHA:254531
HP:0012649	Increased inflammatory response	388015	RTL1	ORPHA:96184
HP:0012649	Increased inflammatory response	8788	DLK1	ORPHA:254531
HP:0012649	Increased inflammatory response	8788	DLK1	ORPHA:96184
HP:0012649	Increased inflammatory response	55384	MEG3	ORPHA:254531
HP:0012649	Increased inflammatory response	55384	MEG3	ORPHA:96184
HP:0012649	Increased inflammatory response	100151683	RNU4ATAC	ORPHA:353298
HP:0012649	Increased inflammatory response	100151683	RNU4ATAC	OMIM:616651
HP:0012649	Increased inflammatory response	5575	PRKAR1B	OMIM:619680
HP:0012649	Increased inflammatory response	10847	SRCAP	OMIM:136140
HP:0012649	Increased inflammatory response	11151	CORO1A	OMIM:615401
HP:0012649	Increased inflammatory response	868	CBLB	OMIM:620430
HP:0012649	Increased inflammatory response	4297	KMT2A	OMIM:605130
HP:0012649	Increased inflammatory response	57551	TAOK1	OMIM:619575
HP:0012649	Increased inflammatory response	3643	INSR	OMIM:246200
HP:0012649	Increased inflammatory response	713	C1QB	OMIM:620321
HP:0012649	Increased inflammatory response	6045	RNF2	OMIM:619460
HP:0012649	Increased inflammatory response	1280	COL2A1	OMIM:156550
HP:0012649	Increased inflammatory response	1053	CEBPE	OMIM:245480
HP:0012649	Increased inflammatory response	5718	PSMD12	ORPHA:529962
HP:0012649	Increased inflammatory response	2186	BPTF	ORPHA:529962
HP:0012649	Increased inflammatory response	1822	ATN1	OMIM:618494
HP:0012649	Increased inflammatory response	3560	IL2RB	OMIM:618495
HP:0012649	Increased inflammatory response	91039	DPP9	OMIM:620331
HP:0012649	Increased inflammatory response	6874	TAF4	OMIM:620450
HP:0012649	Increased inflammatory response	164781	DAW1	OMIM:620570
HP:0012649	Increased inflammatory response	57003	CCDC47	OMIM:618268
HP:0012649	Increased inflammatory response	5977	DPF2	OMIM:618027
HP:0012649	Increased inflammatory response	1859	DYRK1A	OMIM:614104
HP:0012649	Increased inflammatory response	55329	MNS1	OMIM:618948
HP:0012649	Increased inflammatory response	940	CD28	OMIM:620901
HP:0012649	Increased inflammatory response	920	CD4	OMIM:619238
HP:0012649	Increased inflammatory response	5336	PLCG2	OMIM:614468
HP:0012649	Increased inflammatory response	3570	IL6R	OMIM:618944
HP:0012649	Increased inflammatory response	23112	TNRC6B	OMIM:619243
HP:0012649	Increased inflammatory response	5294	PIK3CG	OMIM:619802
HP:0012649	Increased inflammatory response	2799	GNS	OMIM:252940
HP:0012649	Increased inflammatory response	10551	AGR2	OMIM:620233
HP:0012649	Increased inflammatory response	83844	USP26	OMIM:301101
HP:0012649	Increased inflammatory response	5879	RAC1	OMIM:617751
HP:0012649	Increased inflammatory response	5879	RAC1	ORPHA:500159
HP:0012649	Increased inflammatory response	341208	HEPHL1	OMIM:261990
HP:0012649	Increased inflammatory response	1794	DOCK2	OMIM:616433
HP:0012649	Increased inflammatory response	6736	SRY	ORPHA:1772
HP:0012649	Increased inflammatory response	5130	PCYT1A	OMIM:608940
HP:0012649	Increased inflammatory response	1643	DDB2	OMIM:278740
HP:0012649	Increased inflammatory response	1643	DDB2	ORPHA:910
HP:0012649	Increased inflammatory response	5080	PAX6	ORPHA:2334
HP:0012649	Increased inflammatory response	5080	PAX6	OMIM:148190
HP:0012649	Increased inflammatory response	22947	DUX4L1	ORPHA:269
HP:0012649	Increased inflammatory response	2483	FRG1	ORPHA:269
HP:0012649	Increased inflammatory response	23347	SMCHD1	ORPHA:269
HP:0012649	Increased inflammatory response	100288687	DUX4	ORPHA:269
HP:0012649	Increased inflammatory response	7507	XPA	OMIM:278700
HP:0012649	Increased inflammatory response	7507	XPA	ORPHA:910
HP:0012649	Increased inflammatory response	5429	POLH	OMIM:278750
HP:0012649	Increased inflammatory response	5429	POLH	ORPHA:90342
HP:0012649	Increased inflammatory response	6935	ZEB1	OMIM:613270
HP:0012649	Increased inflammatory response	5339	PLEC	OMIM:226670
HP:0012649	Increased inflammatory response	7508	XPC	OMIM:278720
HP:0012649	Increased inflammatory response	7508	XPC	ORPHA:910
HP:0012649	Increased inflammatory response	9244	CRLF1	OMIM:272430
HP:0012649	Increased inflammatory response	23476	BRD4	ORPHA:199
HP:0012649	Increased inflammatory response	9126	SMC3	ORPHA:199
HP:0012649	Increased inflammatory response	6878	TAF6	ORPHA:199
HP:0012649	Increased inflammatory response	55869	HDAC8	ORPHA:199
HP:0012649	Increased inflammatory response	5885	RAD21	ORPHA:199
HP:0012649	Increased inflammatory response	5980	REV3L	ORPHA:570
HP:0012649	Increased inflammatory response	23129	PLXND1	ORPHA:570
HP:0012649	Increased inflammatory response	6768	ST14	OMIM:602400
HP:0012649	Increased inflammatory response	23556	PIGN	ORPHA:280633
HP:0012649	Increased inflammatory response	5333	PLCD1	ORPHA:2387
HP:0012649	Increased inflammatory response	488	ATP2A2	ORPHA:218
HP:0012649	Increased inflammatory response	8675	STX16	ORPHA:94089
HP:0012649	Increased inflammatory response	1161	ERCC8	ORPHA:90321
HP:0012649	Increased inflammatory response	1161	ERCC8	ORPHA:90322
HP:0012649	Increased inflammatory response	2067	ERCC1	ORPHA:90322
HP:0012649	Increased inflammatory response	7086	TKT	ORPHA:488618
HP:0012649	Increased inflammatory response	7037	TFRC	OMIM:616740
HP:0012649	Increased inflammatory response	2077	ERF	ORPHA:207
HP:0012649	Increased inflammatory response	5075	PAX1	OMIM:615560
HP:0012649	Increased inflammatory response	7390	UROS	OMIM:263700
HP:0012649	Increased inflammatory response	79722	ANKRD55	ORPHA:85410
HP:0012649	Increased inflammatory response	79722	ANKRD55	ORPHA:85408
HP:0012649	Increased inflammatory response	5771	PTPN2	ORPHA:85410
HP:0012649	Increased inflammatory response	5771	PTPN2	ORPHA:85408
HP:0012649	Increased inflammatory response	726	CAPN5	OMIM:193235
HP:0012649	Increased inflammatory response	220202	ATOH7	OMIM:221900
HP:0012649	Increased inflammatory response	84181	CHD6	ORPHA:2108
HP:0012649	Increased inflammatory response	1281	COL3A1	OMIM:130050
HP:0012649	Increased inflammatory response	1281	COL3A1	ORPHA:286
HP:0012649	Increased inflammatory response	3689	ITGB2	OMIM:116920
HP:0012649	Increased inflammatory response	716	C1S	ORPHA:75392
HP:0012649	Increased inflammatory response	716	C1S	OMIM:617174
HP:0012649	Increased inflammatory response	715	C1R	ORPHA:75392
HP:0012649	Increased inflammatory response	715	C1R	OMIM:130080
HP:0012649	Increased inflammatory response	55612	FERMT1	ORPHA:2908
HP:0012649	Increased inflammatory response	55612	FERMT1	OMIM:173650
HP:0012649	Increased inflammatory response	165	AEBP1	OMIM:618000
HP:0012649	Increased inflammatory response	165	AEBP1	ORPHA:536532
HP:0012649	Increased inflammatory response	2248	FGF3	ORPHA:2791
HP:0012649	Increased inflammatory response	92344	GORAB	OMIM:231070
HP:0012649	Increased inflammatory response	8546	AP3B1	OMIM:608233
HP:0012649	Increased inflammatory response	55343	SLC35C1	OMIM:266265
HP:0012649	Increased inflammatory response	1130	LYST	ORPHA:167
HP:0012649	Increased inflammatory response	1130	LYST	OMIM:214500
HP:0012649	Increased inflammatory response	6728	SRP19	ORPHA:486
HP:0012649	Increased inflammatory response	2672	GFI1	ORPHA:486
HP:0012649	Increased inflammatory response	81570	CLPB	ORPHA:486
HP:0012649	Increased inflammatory response	375056	MIA3	OMIM:619269
HP:0012649	Increased inflammatory response	80169	CTC1	ORPHA:1775
HP:0012649	Increased inflammatory response	26277	TINF2	ORPHA:1775
HP:0012649	Increased inflammatory response	55651	NHP2	ORPHA:1775
HP:0012649	Increased inflammatory response	79650	USB1	ORPHA:1775
HP:0012649	Increased inflammatory response	55135	WRAP53	ORPHA:1775
HP:0012649	Increased inflammatory response	51750	RTEL1	ORPHA:1775
HP:0012649	Increased inflammatory response	4869	NPM1	ORPHA:1775
HP:0012649	Increased inflammatory response	7012	TERC	ORPHA:1775
HP:0012649	Increased inflammatory response	55505	NOP10	ORPHA:1775
HP:0012649	Increased inflammatory response	5073	PARN	ORPHA:1775
HP:0012649	Increased inflammatory response	7015	TERT	ORPHA:1775
HP:0012649	Increased inflammatory response	1736	DKC1	ORPHA:1775
HP:0012649	Increased inflammatory response	7298	TYMS	ORPHA:1775
HP:0012649	Increased inflammatory response	4853	NOTCH2	ORPHA:955
HP:0012649	Increased inflammatory response	4952	OCRL	ORPHA:534
HP:0012649	Increased inflammatory response	2542	SLC37A4	ORPHA:79259
HP:0012649	Increased inflammatory response	1075	CTSC	ORPHA:678
HP:0012649	Increased inflammatory response	54345	SOX18	OMIM:137940
HP:0012649	Increased inflammatory response	84823	LMNB2	OMIM:608709
HP:0012649	Increased inflammatory response	712	C1QA	OMIM:613652
HP:0012649	Increased inflammatory response	8526	DGKE	OMIM:615008
HP:0012649	Increased inflammatory response	6909	TBX2	OMIM:618223
HP:0012649	Increased inflammatory response	27022	FOXD3	OMIM:607836
HP:0012649	Increased inflammatory response	23040	MYT1L	ORPHA:647799
HP:0012649	Increased inflammatory response	10483	SEC23B	OMIM:616858
HP:0012649	Increased inflammatory response	1188	CLCNKB	ORPHA:358
HP:0012649	Increased inflammatory response	6559	SLC12A3	ORPHA:358
HP:0012649	Increased inflammatory response	8036	SHOC2	OMIM:607721
HP:0012649	Increased inflammatory response	2235	FECH	OMIM:177000
HP:0012649	Increased inflammatory response	2235	FECH	ORPHA:79278
HP:0012649	Increased inflammatory response	26960	NBEA	OMIM:619157
HP:0012649	Increased inflammatory response	6016	RIT1	OMIM:615355
HP:0012649	Increased inflammatory response	9759	HDAC4	ORPHA:1001
HP:0012649	Increased inflammatory response	9759	HDAC4	OMIM:600430
HP:0012649	Increased inflammatory response	57122	NUP107	OMIM:618348
HP:0012649	Increased inflammatory response	5604	MAP2K1	ORPHA:389
HP:0012649	Increased inflammatory response	4893	NRAS	ORPHA:389
HP:0012649	Increased inflammatory response	673	BRAF	ORPHA:389
HP:0012649	Increased inflammatory response	3021	H3-3B	OMIM:619721
HP:0012649	Increased inflammatory response	79644	SRD5A3	OMIM:612379
HP:0012649	Increased inflammatory response	5053	PAH	OMIM:261600
HP:0012649	Increased inflammatory response	5053	PAH	ORPHA:79254
HP:0012649	Increased inflammatory response	9837	GINS1	OMIM:617827
HP:0012649	Increased inflammatory response	7175	TPR	OMIM:620393
HP:0012649	Increased inflammatory response	16	AARS1	OMIM:619691
HP:0012649	Increased inflammatory response	16	AARS1	ORPHA:33364
HP:0012649	Increased inflammatory response	1896	EDA	OMIM:305100
HP:0012649	Increased inflammatory response	7780	SLC30A2	OMIM:608118
HP:0012649	Increased inflammatory response	51360	MBTPS2	ORPHA:2273
HP:0012649	Increased inflammatory response	51360	MBTPS2	OMIM:308205
HP:0012649	Increased inflammatory response	54496	PRMT7	OMIM:617157
HP:0012649	Increased inflammatory response	54496	PRMT7	ORPHA:464288
HP:0012649	Increased inflammatory response	816	CAMK2B	OMIM:617799
HP:0012649	Increased inflammatory response	686	BTD	ORPHA:79241
HP:0012649	Increased inflammatory response	3141	HLCS	ORPHA:79242
HP:0012649	Increased inflammatory response	6821	SUOX	OMIM:272300
HP:0012649	Increased inflammatory response	4478	MSN	OMIM:300988
HP:0012649	Increased inflammatory response	26053	AUTS2	ORPHA:352490
HP:0012649	Increased inflammatory response	51428	DDX41	OMIM:616871
HP:0012649	Increased inflammatory response	93627	TBCK	ORPHA:488632
HP:0012649	Increased inflammatory response	267010	RNU12	ORPHA:85199
HP:0012649	Increased inflammatory response	1474	CST6	OMIM:618535
HP:0012649	Increased inflammatory response	10043	TOM1	OMIM:619510
HP:0012649	Increased inflammatory response	10526	IPO8	OMIM:619472
HP:0012649	Increased inflammatory response	126695	KDF1	OMIM:617337
HP:0012649	Increased inflammatory response	126695	KDF1	ORPHA:1810
HP:0012649	Increased inflammatory response	25914	RTTN	ORPHA:468631
HP:0012649	Increased inflammatory response	2312	FLG	OMIM:146700
HP:0012649	Increased inflammatory response	79092	CARD14	ORPHA:2897
HP:0012649	Increased inflammatory response	283209	PGM2L1	OMIM:620191
HP:0012649	Increased inflammatory response	11005	SPINK5	OMIM:256500
HP:0012649	Increased inflammatory response	11005	SPINK5	ORPHA:634
HP:0012649	Increased inflammatory response	55072	RNF31	OMIM:620632
HP:0012649	Increased inflammatory response	23387	SIK3	OMIM:618162
HP:0012649	Increased inflammatory response	2678	GGT1	OMIM:231950
HP:0012649	Increased inflammatory response	203190	LGI3	OMIM:620007
HP:0012649	Increased inflammatory response	4733	DRG1	OMIM:620641
HP:0012649	Increased inflammatory response	404672	GTF2H5	ORPHA:33364
HP:0012649	Increased inflammatory response	833	CARS1	ORPHA:33364
HP:0012649	Increased inflammatory response	2068	ERCC2	ORPHA:33364
HP:0012649	Increased inflammatory response	7737	RNF113A	ORPHA:33364
HP:0012649	Increased inflammatory response	136647	MPLKIP	ORPHA:33364
HP:0012649	Increased inflammatory response	6897	TARS1	ORPHA:33364
HP:0012649	Increased inflammatory response	2071	ERCC3	ORPHA:33364
HP:0012649	Increased inflammatory response	2961	GTF2E2	ORPHA:33364
HP:0012649	Increased inflammatory response	9526	MPDU1	ORPHA:79323
HP:0012649	Increased inflammatory response	9333	TGM5	ORPHA:263534
HP:0012649	Increased inflammatory response	1475	CSTA	ORPHA:263534
HP:0012649	Increased inflammatory response	55181	SMG8	OMIM:619268
HP:0012649	Increased inflammatory response	56160	NSMCE3	OMIM:617241
HP:0012649	Increased inflammatory response	5426	POLE	OMIM:618336
HP:0012649	Increased inflammatory response	8216	LZTR1	OMIM:605275
HP:0012649	Increased inflammatory response	7133	TNFRSF1B	ORPHA:2584
HP:0012649	Increased inflammatory response	7189	TRAF6	ORPHA:1810
HP:0012649	Increased inflammatory response	128178	EDARADD	ORPHA:1810
HP:0012649	Increased inflammatory response	10913	EDAR	ORPHA:1810
HP:0012649	Increased inflammatory response	5551	PRF1	ORPHA:540
HP:0012649	Increased inflammatory response	5551	PRF1	OMIM:603553
HP:0012649	Increased inflammatory response	8676	STX11	ORPHA:540
HP:0012649	Increased inflammatory response	8676	STX11	OMIM:603552
HP:0012649	Increased inflammatory response	201294	UNC13D	ORPHA:540
HP:0012649	Increased inflammatory response	58484	NLRC4	OMIM:616050
HP:0012649	Increased inflammatory response	5699	PSMB10	OMIM:619175
HP:0012649	Increased inflammatory response	7010	TEK	ORPHA:1059
HP:0012649	Increased inflammatory response	23152	CIC	OMIM:617600
HP:0012649	Increased inflammatory response	2697	GJA1	ORPHA:317
HP:0012649	Increased inflammatory response	2707	GJB3	ORPHA:317
HP:0012649	Increased inflammatory response	2531	KDSR	ORPHA:317
HP:0012649	Increased inflammatory response	127534	GJB4	ORPHA:317
HP:0012649	Increased inflammatory response	84701	COX4I2	OMIM:612714
HP:0012649	Increased inflammatory response	2243	FGA	OMIM:105200
HP:0012649	Increased inflammatory response	8647	ABCB11	ORPHA:69665
HP:0012649	Increased inflammatory response	9971	NR1H4	ORPHA:69665
HP:0012649	Increased inflammatory response	5788	PTPRC	OMIM:619924
HP:0012649	Increased inflammatory response	2073	ERCC5	ORPHA:220295
HP:0012649	Increased inflammatory response	2072	ERCC4	ORPHA:220295
HP:0012649	Increased inflammatory response	55739	NAXD	OMIM:618321
HP:0012649	Increased inflammatory response	51371	POMP	OMIM:618048
HP:0012649	Increased inflammatory response	3937	LCP2	OMIM:619374
HP:0012649	Increased inflammatory response	6389	SDHA	ORPHA:44890
HP:0012649	Increased inflammatory response	6390	SDHB	ORPHA:44890
HP:0012649	Increased inflammatory response	6391	SDHC	ORPHA:44890
HP:0012649	Increased inflammatory response	3815	KIT	ORPHA:44890
HP:0012649	Increased inflammatory response	340024	SLC6A19	ORPHA:2116
HP:0012649	Increased inflammatory response	57393	CLTRN	ORPHA:2116
HP:0012649	Increased inflammatory response	3458	IFNG	OMIM:618963
HP:0012649	Increased inflammatory response	1291	COL6A1	OMIM:158810
HP:0012649	Increased inflammatory response	9181	ARHGEF2	OMIM:617523
HP:0012649	Increased inflammatory response	56916	SMARCAD1	ORPHA:1658
HP:0012649	Increased inflammatory response	3858	KRT10	ORPHA:312
HP:0012649	Increased inflammatory response	3858	KRT10	OMIM:620150
HP:0012649	Increased inflammatory response	3858	KRT10	OMIM:620707
HP:0012649	Increased inflammatory response	3858	KRT10	OMIM:609165
HP:0012649	Increased inflammatory response	3848	KRT1	ORPHA:312
HP:0012649	Increased inflammatory response	3848	KRT1	OMIM:113800
HP:0012649	Increased inflammatory response	11012	KLK11	OMIM:620507
HP:0012649	Increased inflammatory response	1041	CDSN	OMIM:270300
HP:0012649	Increased inflammatory response	10999	SLC27A4	OMIM:608649
HP:0012649	Increased inflammatory response	2706	GJB2	OMIM:602540
HP:0012649	Increased inflammatory response	162	AP1B1	OMIM:242150
HP:0012649	Increased inflammatory response	130340	AP1S3	ORPHA:247353
HP:0012649	Increased inflammatory response	6785	ELOVL4	OMIM:133190
HP:0012649	Increased inflammatory response	57609	DIP2B	OMIM:136630
HP:0012649	Increased inflammatory response	4047	LSS	OMIM:618840
HP:0012649	Increased inflammatory response	6868	ADAM17	OMIM:614328
HP:0012649	Increased inflammatory response	10682	EBP	OMIM:302960
HP:0012649	Increased inflammatory response	10682	EBP	ORPHA:35173
HP:0012649	Increased inflammatory response	204219	CERS3	OMIM:615023
HP:0012649	Increased inflammatory response	204219	CERS3	ORPHA:79394
HP:0012649	Increased inflammatory response	285848	PNPLA1	OMIM:615024
HP:0012649	Increased inflammatory response	285848	PNPLA1	ORPHA:79394
HP:0012649	Increased inflammatory response	1828	DSG1	OMIM:615508
HP:0012649	Increased inflammatory response	2615	LRRC32	OMIM:619074
HP:0012649	Increased inflammatory response	388698	FLG2	OMIM:618084
HP:0012649	Increased inflammatory response	3735	KARS1	ORPHA:3240
HP:0012649	Increased inflammatory response	91754	NEK9	OMIM:614262
HP:0012649	Increased inflammatory response	121391	KRT74	ORPHA:90368
HP:0012649	Increased inflammatory response	6573	SLC19A1	OMIM:620603
HP:0012649	Increased inflammatory response	22800	RRAS2	OMIM:618624
HP:0012649	Increased inflammatory response	5498	PPOX	OMIM:620483
HP:0012649	Increased inflammatory response	10060	ABCC9	OMIM:619719
HP:0012649	Increased inflammatory response	23102	TBC1D2B	ORPHA:397973
HP:0012649	Increased inflammatory response	3313	HSPA9	OMIM:616854
HP:0012649	Increased inflammatory response	22880	MORC2	ORPHA:466768
HP:0012649	Increased inflammatory response	79755	ZNF750	OMIM:610227
HP:0012649	Increased inflammatory response	64087	MCCC2	OMIM:210210
HP:0012649	Increased inflammatory response	9939	RBM8A	OMIM:274000
HP:0012649	Increased inflammatory response	9508	ADAMTS3	ORPHA:2136
HP:0012649	Increased inflammatory response	147372	CCBE1	ORPHA:2136
HP:0012649	Increased inflammatory response	147372	CCBE1	OMIM:235510
HP:0012649	Increased inflammatory response	79633	FAT4	ORPHA:2136
HP:0012649	Increased inflammatory response	2324	FLT4	ORPHA:79452
HP:0012649	Increased inflammatory response	285	ANGPT2	ORPHA:79452
HP:0012649	Increased inflammatory response	57165	GJC2	ORPHA:79452
HP:0012649	Increased inflammatory response	374393	FAM111B	OMIM:615704
HP:0012649	Increased inflammatory response	9563	H6PD	OMIM:604931
HP:0012649	Increased inflammatory response	1893	ECM1	ORPHA:530
HP:0012649	Increased inflammatory response	84196	USP48	ORPHA:96253
HP:0012649	Increased inflammatory response	7157	TP53	ORPHA:96253
HP:0012649	Increased inflammatory response	9101	USP8	ORPHA:96253
HP:0012649	Increased inflammatory response	64072	CDH23	ORPHA:96253
HP:0012649	Increased inflammatory response	2908	NR3C1	ORPHA:96253
HP:0012649	Increased inflammatory response	2908	NR3C1	ORPHA:786
HP:0012649	Increased inflammatory response	546	ATRX	ORPHA:96253
HP:0012649	Increased inflammatory response	5566	PRKACA	OMIM:615830
HP:0012649	Increased inflammatory response	54361	WNT4	ORPHA:247768
HP:0012649	Increased inflammatory response	54361	WNT4	OMIM:158330
HP:0012649	Increased inflammatory response	285590	SH3PXD2B	ORPHA:137834
HP:0012649	Increased inflammatory response	285590	SH3PXD2B	OMIM:249420
HP:0012649	Increased inflammatory response	3973	LHCGR	ORPHA:3000
HP:0012649	Increased inflammatory response	9060	PAPSS2	OMIM:612847
HP:0012649	Increased inflammatory response	83550	GPR101	ORPHA:963
HP:0012649	Increased inflammatory response	9049	AIP	ORPHA:963
HP:0012649	Increased inflammatory response	64131	XYLT1	ORPHA:370930
HP:0012649	Increased inflammatory response	2099	ESR1	ORPHA:785
HP:0012649	Increased inflammatory response	2099	ESR1	OMIM:615363
HP:0012649	Increased inflammatory response	79798	ARMC5	ORPHA:189427
HP:0012649	Increased inflammatory response	23028	KDM1A	ORPHA:189427
HP:0012649	Increased inflammatory response	4212	MEIS2	ORPHA:261190
HP:0012649	Increased inflammatory response	367	AR	ORPHA:99429
HP:0012649	Increased inflammatory response	1584	CYP11B1	ORPHA:90795
HP:0012649	Increased inflammatory response	2255	FGF10	ORPHA:2363
HP:0012649	Increased inflammatory response	6335	SCN9A	OMIM:133020
HP:0012649	Increased inflammatory response	2296	FOXC1	ORPHA:250923
HP:0012649	Increased inflammatory response	54765	TRIM44	ORPHA:250923
HP:0012649	Increased inflammatory response	55699	IARS2	OMIM:616007
HP:0012649	Increased inflammatory response	29926	GMPPA	ORPHA:869
HP:0012649	Increased inflammatory response	8086	AAAS	ORPHA:869
HP:0012649	Increased inflammatory response	2934	GSN	ORPHA:85448
HP:0012649	Increased inflammatory response	4081	MAB21L1	OMIM:618479
HP:0012649	Increased inflammatory response	4081	MAB21L1	ORPHA:495875
HP:0012649	Increased inflammatory response	5965	RECQL	OMIM:620370
HP:0012649	Increased inflammatory response	4547	MTTP	ORPHA:14
HP:0012649	Increased inflammatory response	4069	LYZ	OMIM:620658
HP:0012649	Increased inflammatory response	2200	FBN1	OMIM:616914
HP:0012649	Increased inflammatory response	10804	GJB6	ORPHA:477
HP:0012649	Increased inflammatory response	59335	PRDM12	OMIM:616488
HP:0012649	Increased inflammatory response	83706	FERMT3	OMIM:612840
HP:0012649	Increased inflammatory response	11322	TMC6	ORPHA:302
HP:0012649	Increased inflammatory response	3574	IL7	ORPHA:302
HP:0012649	Increased inflammatory response	147138	TMC8	ORPHA:302
HP:0012649	Increased inflammatory response	10519	CIB1	ORPHA:302
HP:0012649	Increased inflammatory response	113189	CHST14	OMIM:601776
HP:0012649	Increased inflammatory response	113189	CHST14	ORPHA:2953
HP:0012649	Increased inflammatory response	4780	NFE2L2	OMIM:617744
HP:0012649	Increased inflammatory response	29940	DSE	ORPHA:2953
HP:0012649	Increased inflammatory response	57591	MRTFA	OMIM:618847
HP:0012649	Increased inflammatory response	2303	FOXC2	ORPHA:33001
HP:0012649	Increased inflammatory response	2050	EPHB4	ORPHA:90186
HP:0012649	Increased inflammatory response	26258	BLOC1S6	OMIM:614171
HP:0012649	Increased inflammatory response	4153	MBL2	OMIM:614372
HP:0012649	Increased inflammatory response	3852	KRT5	ORPHA:79396
HP:0012649	Increased inflammatory response	3861	KRT14	ORPHA:79396
HP:0012649	Increased inflammatory response	6778	STAT6	OMIM:620532
HP:0012649	Increased inflammatory response	8883	NAE1	OMIM:620210
HP:0012649	Increased inflammatory response	8974	P4HA2	ORPHA:397
HP:0012649	Increased inflammatory response	4094	MAF	ORPHA:1272
HP:0012649	Increased inflammatory response	4094	MAF	OMIM:601088
HP:0012649	Increased inflammatory response	10216	PRG4	ORPHA:2848
HP:0012649	Increased inflammatory response	3039	HBA1	ORPHA:163596
HP:0012649	Increased inflammatory response	3040	HBA2	ORPHA:163596
HP:0012649	Increased inflammatory response	4594	MMUT	ORPHA:289916
HP:0012649	Increased inflammatory response	4594	MMUT	OMIM:251000
HP:0012649	Increased inflammatory response	4594	MMUT	ORPHA:79312
HP:0012649	Increased inflammatory response	875	CBS	ORPHA:394
HP:0012649	Increased inflammatory response	875	CBS	OMIM:236200
HP:0012649	Increased inflammatory response	9056	SLC7A7	ORPHA:470
HP:0012649	Increased inflammatory response	9056	SLC7A7	OMIM:222700
HP:0012649	Increased inflammatory response	593	BCKDHA	OMIM:248600
HP:0012649	Increased inflammatory response	540	ATP7B	ORPHA:905
HP:0012649	Increased inflammatory response	11330	CTRC	OMIM:167800
HP:0012649	Increased inflammatory response	5645	PRSS2	OMIM:167800
HP:0012649	Increased inflammatory response	5644	PRSS1	OMIM:167800
HP:0012649	Increased inflammatory response	6690	SPINK1	OMIM:167800
HP:0012649	Increased inflammatory response	79577	CDC73	ORPHA:143
HP:0012649	Increased inflammatory response	79577	CDC73	ORPHA:99880
HP:0012649	Increased inflammatory response	57104	PNPLA2	ORPHA:565612
HP:0012649	Increased inflammatory response	5244	ABCB4	ORPHA:69663
HP:0012649	Increased inflammatory response	5244	ABCB4	OMIM:600803
HP:0012649	Increased inflammatory response	4722	NDUFS3	OMIM:618230
HP:0012649	Increased inflammatory response	63924	CIDEC	ORPHA:435651
HP:0012649	Increased inflammatory response	50485	SMARCAL1	ORPHA:1830
HP:0012649	Increased inflammatory response	50940	PDE11A	OMIM:610475
HP:0012649	Increased inflammatory response	10165	SLC25A13	OMIM:603471
HP:0012649	Increased inflammatory response	10165	SLC25A13	ORPHA:247585
HP:0012649	Increased inflammatory response	4000	LMNA	ORPHA:280365
HP:0012649	Increased inflammatory response	4000	LMNA	ORPHA:79084
HP:0012649	Increased inflammatory response	4000	LMNA	OMIM:151660
HP:0012649	Increased inflammatory response	4000	LMNA	ORPHA:2348
HP:0012649	Increased inflammatory response	10320	IKZF1	ORPHA:36426
HP:0012649	Increased inflammatory response	72	ACTG2	OMIM:155310
HP:0012649	Increased inflammatory response	2859	GPR35	ORPHA:171
HP:0012649	Increased inflammatory response	10507	SEMA4D	ORPHA:171
HP:0012649	Increased inflammatory response	4485	MST1	ORPHA:171
HP:0012649	Increased inflammatory response	6925	TCF4	ORPHA:171
HP:0012649	Increased inflammatory response	326	AIRE	OMIM:240300
HP:0012649	Increased inflammatory response	10273	STUB1	ORPHA:412057
HP:0012649	Increased inflammatory response	133686	NADK2	ORPHA:431361
HP:0012649	Increased inflammatory response	2538	G6PC1	OMIM:232200
HP:0012649	Increased inflammatory response	26007	TKFC	OMIM:618805
HP:0012649	Increased inflammatory response	4358	MPV17	OMIM:256810
HP:0012649	Increased inflammatory response	5468	PPARG	ORPHA:79083
HP:0012649	Increased inflammatory response	5095	PCCA	OMIM:606054
HP:0012649	Increased inflammatory response	5096	PCCB	OMIM:606054
HP:0012649	Increased inflammatory response	5205	ATP8B1	OMIM:243300
HP:0012649	Increased inflammatory response	2778	GNAS	ORPHA:562
HP:0012649	Increased inflammatory response	1175	AP2S1	OMIM:600740
HP:0012649	Increased inflammatory response	9054	NFS1	OMIM:619386
HP:0012649	Increased inflammatory response	64788	LMF1	OMIM:246650
HP:0012649	Increased inflammatory response	344	APOC2	OMIM:207750
HP:0012649	Increased inflammatory response	846	CASR	OMIM:145980
HP:0012649	Increased inflammatory response	2767	GNA11	OMIM:145981
HP:0012649	Increased inflammatory response	7388	UQCRH	OMIM:620137
HP:0012649	Increased inflammatory response	78987	CRELD1	OMIM:620771
HP:0012649	Increased inflammatory response	338328	GPIHBP1	OMIM:615947
HP:0012649	Increased inflammatory response	2313	FLI1	ORPHA:370348
HP:0012649	Increased inflammatory response	90952	ESAM	OMIM:620371
HP:0012649	Increased inflammatory response	3155	HMGCL	ORPHA:20
HP:0012649	Increased inflammatory response	3712	IVD	ORPHA:33
HP:0012649	Increased inflammatory response	286053	NSMCE2	OMIM:617253
HP:0012649	Increased inflammatory response	26580	BSCL2	OMIM:269700
HP:0012649	Increased inflammatory response	4023	LPL	OMIM:238600
HP:0012649	Increased inflammatory response	348	APOE	ORPHA:412
HP:0012649	Increased inflammatory response	10555	AGPAT2	OMIM:608594
HP:0012649	Increased inflammatory response	22948	CCT5	OMIM:256840
HP:0012649	Increased inflammatory response	22948	CCT5	ORPHA:139578
HP:0012649	Increased inflammatory response	7879	RAB7A	OMIM:600882
HP:0012649	Increased inflammatory response	57680	CHD8	OMIM:615032
HP:0012649	Increased inflammatory response	5243	ABCB1	OMIM:612244
HP:0012649	Increased inflammatory response	3257	HPS1	OMIM:203300
HP:0012649	Increased inflammatory response	8737	RIPK1	OMIM:618108
HP:0012649	Increased inflammatory response	59067	IL21	OMIM:615767
HP:0012649	Increased inflammatory response	2165	F13B	ORPHA:331
HP:0012649	Increased inflammatory response	2162	F13A1	ORPHA:331
HP:0012649	Increased inflammatory response	2000	ELF4	OMIM:301074
HP:0012649	Increased inflammatory response	345611	IRGM	OMIM:612278
HP:0012649	Increased inflammatory response	64858	DCLRE1B	OMIM:620133
HP:0012649	Increased inflammatory response	2395	FXN	ORPHA:95
HP:0012649	Increased inflammatory response	57190	SELENON	ORPHA:97244
HP:0012649	Increased inflammatory response	58	ACTA1	ORPHA:97244
HP:0012649	Increased inflammatory response	23308	ICOSLG	OMIM:620825
HP:0012649	Increased inflammatory response	987	LRBA	OMIM:614700
HP:0012649	Increased inflammatory response	411	ARSB	OMIM:253200
HP:0012649	Increased inflammatory response	3909	LAMA3	ORPHA:79404
HP:0012649	Increased inflammatory response	3918	LAMC2	ORPHA:79404
HP:0012649	Increased inflammatory response	3914	LAMB3	ORPHA:79404
HP:0012649	Increased inflammatory response	6720	SREBF1	OMIM:158310
HP:0012649	Increased inflammatory response	10559	SLC35A1	ORPHA:238459
HP:0012649	Increased inflammatory response	3718	JAK3	OMIM:600802
HP:0012649	Increased inflammatory response	841	CASP8	OMIM:607271
HP:0012649	Increased inflammatory response	29927	SEC61A1	OMIM:620674
HP:0012649	Increased inflammatory response	5698	PSMB9	OMIM:620796
HP:0012649	Increased inflammatory response	2188	FANCF	OMIM:603467
HP:0012649	Increased inflammatory response	7535	ZAP70	OMIM:269840
HP:0012649	Increased inflammatory response	7535	ZAP70	ORPHA:911
HP:0012649	Increased inflammatory response	54	ACP5	OMIM:607944
HP:0012649	Increased inflammatory response	54	ACP5	ORPHA:1855
HP:0012649	Increased inflammatory response	6445	SGCG	OMIM:253700
HP:0012649	Increased inflammatory response	5277	PIGA	OMIM:300868
HP:0012649	Increased inflammatory response	27019	DNAI1	OMIM:244400
HP:0012649	Increased inflammatory response	4534	MTM1	ORPHA:596
HP:0012649	Increased inflammatory response	7092	TLL1	ORPHA:99103
HP:0012649	Increased inflammatory response	57057	TBX20	ORPHA:99103
HP:0012649	Increased inflammatory response	4624	MYH6	ORPHA:99103
HP:0012649	Increased inflammatory response	1482	NKX2-5	ORPHA:99103
HP:0012649	Increased inflammatory response	70	ACTC1	ORPHA:99103
HP:0012649	Increased inflammatory response	10370	CITED2	ORPHA:99103
HP:0012649	Increased inflammatory response	2626	GATA4	ORPHA:99103
HP:0012649	Increased inflammatory response	2627	GATA6	ORPHA:99103
HP:0012649	Increased inflammatory response	28962	OSTM1	ORPHA:85179
HP:0012649	Increased inflammatory response	54914	FOCAD	OMIM:619991
HP:0012649	Increased inflammatory response	9841	ZBTB24	OMIM:614069
HP:0012649	Increased inflammatory response	64446	DNAI2	OMIM:612444
HP:0012649	Increased inflammatory response	6023	RMRP	ORPHA:39041
HP:0012649	Increased inflammatory response	55636	CHD7	ORPHA:39041
HP:0012649	Increased inflammatory response	3981	LIG4	ORPHA:39041
HP:0012649	Increased inflammatory response	11128	POLR3A	OMIM:264090
HP:0012649	Increased inflammatory response	374879	ZNF699	OMIM:619488
HP:0012649	Increased inflammatory response	5728	PTEN	ORPHA:397596
HP:0012649	Increased inflammatory response	5293	PIK3CD	ORPHA:397596
HP:0012649	Increased inflammatory response	5293	PIK3CD	OMIM:613328
HP:0012649	Increased inflammatory response	629	CFB	OMIM:615561
HP:0012649	Increased inflammatory response	64135	IFIH1	OMIM:615846
HP:0012649	Increased inflammatory response	2215	FCGR3B	ORPHA:464370
HP:0012649	Increased inflammatory response	6440	SFTPC	ORPHA:685082
HP:0012649	Increased inflammatory response	21	ABCA3	ORPHA:685082
HP:0012649	Increased inflammatory response	6439	SFTPB	ORPHA:685082
HP:0012649	Increased inflammatory response	775	CACNA1C	OMIM:601005
HP:0012649	Increased inflammatory response	5966	REL	OMIM:619652
HP:0012649	Increased inflammatory response	50943	FOXP3	ORPHA:37042
HP:0012649	Increased inflammatory response	84433	CARD11	OMIM:617638
HP:0012649	Increased inflammatory response	6261	RYR1	ORPHA:98905
HP:0012649	Increased inflammatory response	23765	IL17RA	OMIM:613953
HP:0012649	Increased inflammatory response	3594	IL12RB1	ORPHA:319552
HP:0012649	Increased inflammatory response	5903	RANBP2	OMIM:608033
HP:0012649	Increased inflammatory response	37	ACADVL	ORPHA:26793
HP:0012649	Increased inflammatory response	6850	SYK	OMIM:619381
HP:0012649	Increased inflammatory response	345643	MCIDAS	OMIM:618695
HP:0012649	Increased inflammatory response	90417	KNSTRN	OMIM:613328
HP:0012649	Increased inflammatory response	4054	LTBP3	OMIM:617809
HP:0012649	Increased inflammatory response	81704	DOCK8	ORPHA:217390
HP:0012649	Increased inflammatory response	9786	KIAA0586	ORPHA:397715
HP:0012649	Increased inflammatory response	427	ASAH1	ORPHA:2590
HP:0012649	Increased inflammatory response	535	ATP6V0A1	OMIM:619971
HP:0012649	Increased inflammatory response	4281	MID1	ORPHA:2745
HP:0012649	Increased inflammatory response	29957	SLC25A24	OMIM:612289
HP:0012649	Increased inflammatory response	9361	LONP1	ORPHA:79243
HP:0012649	Increased inflammatory response	5160	PDHA1	ORPHA:79243
HP:0012649	Increased inflammatory response	3431	SP110	ORPHA:79124
HP:0012649	Increased inflammatory response	378884	NHLRC1	ORPHA:501
HP:0012649	Increased inflammatory response	7957	EPM2A	ORPHA:501
HP:0012649	Increased inflammatory response	4842	NOS1	ORPHA:930
HP:0012649	Increased inflammatory response	353116	RILPL1	ORPHA:98897
HP:0012649	Increased inflammatory response	10755	GIPC1	ORPHA:98897
HP:0012649	Increased inflammatory response	29967	LRP12	ORPHA:98897
HP:0012649	Increased inflammatory response	100996717	NOTCH2NLC	ORPHA:98897
HP:0012649	Increased inflammatory response	8915	BCL10	OMIM:616098
HP:0012649	Increased inflammatory response	9652	SKIC3	ORPHA:84064
HP:0012649	Increased inflammatory response	811	CALR	ORPHA:131
HP:0012649	Increased inflammatory response	3717	JAK2	ORPHA:131
HP:0012649	Increased inflammatory response	2153	F5	ORPHA:131
HP:0012649	Increased inflammatory response	672	BRCA1	ORPHA:168829
HP:0012649	Increased inflammatory response	4868	NPHS1	ORPHA:656
HP:0012649	Increased inflammatory response	23607	CD2AP	ORPHA:656
HP:0012649	Increased inflammatory response	9688	NUP93	ORPHA:656
HP:0012649	Increased inflammatory response	4643	MYO1E	ORPHA:656
HP:0012649	Increased inflammatory response	64423	INF2	ORPHA:656
HP:0012649	Increased inflammatory response	26130	GAPVD1	ORPHA:656
HP:0012649	Increased inflammatory response	7490	WT1	ORPHA:656
HP:0012649	Increased inflammatory response	51479	ANKFY1	ORPHA:656
HP:0012649	Increased inflammatory response	54443	ANLN	ORPHA:656
HP:0012649	Increased inflammatory response	5800	PTPRO	ORPHA:656
HP:0012649	Increased inflammatory response	286204	CRB2	ORPHA:656
HP:0012649	Increased inflammatory response	23165	NUP205	ORPHA:656
HP:0012649	Increased inflammatory response	2013	EMP2	ORPHA:656
HP:0012649	Increased inflammatory response	79023	NUP37	ORPHA:656
HP:0012649	Increased inflammatory response	51196	PLCE1	ORPHA:656
HP:0012649	Increased inflammatory response	79902	NUP85	ORPHA:656
HP:0012649	Increased inflammatory response	396	ARHGDIA	ORPHA:656
HP:0012649	Increased inflammatory response	79934	COQ8B	ORPHA:656
HP:0012649	Increased inflammatory response	23279	NUP160	ORPHA:656
HP:0012649	Increased inflammatory response	9863	MAGI2	ORPHA:656
HP:0012649	Increased inflammatory response	81	ACTN4	ORPHA:656
HP:0012649	Increased inflammatory response	7225	TRPC6	ORPHA:656
HP:0012649	Increased inflammatory response	8542	APOL1	ORPHA:656
HP:0012649	Increased inflammatory response	54885	TBC1D8B	ORPHA:656
HP:0012649	Increased inflammatory response	7827	NPHS2	ORPHA:656
HP:0012649	Increased inflammatory response	83478	ARHGAP24	ORPHA:656
HP:0012649	Increased inflammatory response	23500	DAAM2	ORPHA:656
HP:0012649	Increased inflammatory response	5076	PAX2	ORPHA:656
HP:0012649	Increased inflammatory response	55746	NUP133	ORPHA:656
HP:0012649	Increased inflammatory response	57724	EPG5	OMIM:242840
HP:0012649	Increased inflammatory response	9020	MAP3K14	OMIM:620449
HP:0012649	Increased inflammatory response	3043	HBB	ORPHA:232
HP:0012649	Increased inflammatory response	9663	LPIN2	OMIM:609628
HP:0012649	Increased inflammatory response	9663	LPIN2	ORPHA:77297
HP:0012649	Increased inflammatory response	9842	PLEKHM1	ORPHA:210110
HP:0012649	Increased inflammatory response	25923	ATL3	OMIM:615632
HP:0012649	Increased inflammatory response	25923	ATL3	ORPHA:36386
HP:0012649	Increased inflammatory response	5238	PGM3	ORPHA:443811
HP:0012649	Increased inflammatory response	8517	IKBKG	OMIM:301081
HP:0012649	Increased inflammatory response	4803	NGF	OMIM:608654
HP:0012649	Increased inflammatory response	6340	SCNN1G	ORPHA:171876
HP:0012649	Increased inflammatory response	6337	SCNN1A	ORPHA:171876
HP:0012649	Increased inflammatory response	6338	SCNN1B	ORPHA:171876
HP:0012649	Increased inflammatory response	3557	IL1RN	OMIM:612852
HP:0012649	Increased inflammatory response	1786	DNMT1	OMIM:614116
HP:0012649	Increased inflammatory response	51062	ATL1	OMIM:613708
HP:0012649	Increased inflammatory response	51062	ATL1	ORPHA:36386
HP:0012649	Increased inflammatory response	10558	SPTLC1	OMIM:162400
HP:0012649	Increased inflammatory response	10558	SPTLC1	ORPHA:36386
HP:0012649	Increased inflammatory response	84905	ZNF341	OMIM:618282
HP:0012649	Increased inflammatory response	3554	IL1R1	OMIM:259680
HP:0012649	Increased inflammatory response	6772	STAT1	OMIM:614162
HP:0012649	Increased inflammatory response	28982	FLVCR1	ORPHA:88628
HP:0012649	Increased inflammatory response	8218	CLTCL1	ORPHA:453510
HP:0012649	Increased inflammatory response	6774	STAT3	ORPHA:2314
HP:0012649	Increased inflammatory response	54463	RETREG1	OMIM:613115
HP:0012649	Increased inflammatory response	2019	EN1	OMIM:619218
HP:0012649	Increased inflammatory response	3248	HPGD	ORPHA:2796
HP:0012649	Increased inflammatory response	6578	SLCO2A1	ORPHA:2796
HP:0012649	Increased inflammatory response	29110	TBK1	OMIM:620880
HP:0012649	Increased inflammatory response	4914	NTRK1	ORPHA:642
HP:0012649	Increased inflammatory response	4914	NTRK1	OMIM:256800
HP:0012649	Increased inflammatory response	538	ATP7A	ORPHA:565
HP:0012649	Increased inflammatory response	2624	GATA2	OMIM:614172
HP:0012649	Increased inflammatory response	205327	C2orf69	OMIM:619423
HP:0012649	Increased inflammatory response	28985	MCTS1	OMIM:301115
HP:0012649	Increased inflammatory response	5283	PIGH	OMIM:618010
HP:0012649	Increased inflammatory response	9517	SPTLC2	OMIM:613640
HP:0012649	Increased inflammatory response	9517	SPTLC2	ORPHA:36386
HP:0012649	Increased inflammatory response	203859	ANO5	OMIM:166260
HP:0012649	Increased inflammatory response	4615	MYD88	OMIM:612260
HP:0012649	Increased inflammatory response	4598	MVK	OMIM:260920
HP:0012649	Increased inflammatory response	10616	RBCK1	OMIM:615895
HP:0012649	Increased inflammatory response	6773	STAT2	OMIM:618886
HP:0012649	Increased inflammatory response	5880	RAC2	OMIM:618986
HP:0012649	Increased inflammatory response	8913	CACNA1G	ORPHA:458803
HP:0012649	Increased inflammatory response	3107	HLA-C	OMIM:177900
HP:0012649	Increased inflammatory response	2625	GATA3	ORPHA:2237
HP:0012649	Increased inflammatory response	64919	BCL11B	OMIM:617237
HP:0012649	Increased inflammatory response	55806	HR	ORPHA:701
HP:0012649	Increased inflammatory response	55315	SLC29A3	ORPHA:168569
HP:0012649	Increased inflammatory response	6307	MSMO1	OMIM:616834
HP:0012649	Increased inflammatory response	1308	COL17A1	ORPHA:79406
HP:0012649	Increased inflammatory response	4312	MMP1	ORPHA:79408
HP:0012649	Increased inflammatory response	1294	COL7A1	ORPHA:79408
HP:0012649	Increased inflammatory response	1294	COL7A1	ORPHA:79409
HP:0012649	Increased inflammatory response	1294	COL7A1	ORPHA:79410
HP:0012649	Increased inflammatory response	1294	COL7A1	ORPHA:79411
HP:0012649	Increased inflammatory response	23534	TNPO3	ORPHA:186
HP:0012649	Increased inflammatory response	6689	SPIB	ORPHA:186
HP:0012649	Increased inflammatory response	5450	POU2AF1	ORPHA:186
HP:0012649	Increased inflammatory response	9966	TNFSF15	ORPHA:186
HP:0012649	Increased inflammatory response	79258	MMEL1	ORPHA:186
HP:0012649	Increased inflammatory response	3663	IRF5	ORPHA:186
HP:0012649	Increased inflammatory response	5979	RET	ORPHA:388
HP:0012649	Increased inflammatory response	5979	RET	OMIM:142623
HP:0012649	Increased inflammatory response	2668	GDNF	ORPHA:388
HP:0012649	Increased inflammatory response	6608	SMO	ORPHA:388
HP:0012649	Increased inflammatory response	1889	ECE1	ORPHA:388
HP:0012649	Increased inflammatory response	1908	EDN3	ORPHA:388
HP:0012649	Increased inflammatory response	223117	SEMA3D	ORPHA:388
HP:0012649	Increased inflammatory response	1910	EDNRB	ORPHA:388
HP:0012649	Increased inflammatory response	10512	SEMA3C	ORPHA:388
HP:0012649	Increased inflammatory response	2064	ERBB2	ORPHA:388
HP:0012649	Increased inflammatory response	2065	ERBB3	ORPHA:388
HP:0012649	Increased inflammatory response	4902	NRTN	ORPHA:388
HP:0012649	Increased inflammatory response	26873	OPLAH	OMIM:260005
HP:0012649	Increased inflammatory response	10068	IL18BP	OMIM:618549
HP:0012649	Increased inflammatory response	3875	KRT18	OMIM:215600
HP:0012649	Increased inflammatory response	4068	SH2D1A	OMIM:308240
HP:0012649	Increased inflammatory response	4507	MTAP	OMIM:112250
HP:0012649	Increased inflammatory response	51135	IRAK4	ORPHA:70592
HP:0012649	Increased inflammatory response	435	ASL	ORPHA:23
HP:0012649	Increased inflammatory response	63929	XPNPEP3	OMIM:613159
HP:0012649	Increased inflammatory response	2710	GK	OMIM:307030
HP:0012649	Increased inflammatory response	3476	IGBP1	OMIM:300472
HP:0012649	Increased inflammatory response	2137	EXTL3	ORPHA:508533
HP:0012649	Increased inflammatory response	2137	EXTL3	OMIM:617425
HP:0012649	Increased inflammatory response	4921	DDR2	OMIM:271665
HP:0012649	Increased inflammatory response	3763	KCNJ6	ORPHA:435628
HP:0012649	Increased inflammatory response	3763	KCNJ6	OMIM:614098
HP:0012649	Increased inflammatory response	5351	PLOD1	OMIM:225400
HP:0012649	Increased inflammatory response	5351	PLOD1	ORPHA:1900
HP:0012649	Increased inflammatory response	6477	SIAH1	OMIM:619314
HP:0012649	Increased inflammatory response	8425	LTBP4	OMIM:613177
HP:0012649	Increased inflammatory response	11133	KPTN	OMIM:615637
HP:0012649	Increased inflammatory response	11133	KPTN	ORPHA:397612
HP:0012649	Increased inflammatory response	81857	MED25	OMIM:616449
HP:0012649	Increased inflammatory response	81857	MED25	ORPHA:464738
HP:0012649	Increased inflammatory response	755	CFAP410	OMIM:602271
HP:0012649	Increased inflammatory response	126792	B3GALT6	OMIM:609465
HP:0012649	Increased inflammatory response	1302	COL11A2	OMIM:215150
HP:0012649	Increased inflammatory response	4522	MTHFD1	OMIM:617780
HP:0012649	Increased inflammatory response	9948	WDR1	OMIM:150550
HP:0012649	Increased inflammatory response	939	CD27	OMIM:615122
HP:0012649	Increased inflammatory response	23149	FCHO1	OMIM:619164
HP:0012649	Increased inflammatory response	10157	AASS	ORPHA:2203
HP:0012649	Increased inflammatory response	5184	PEPD	OMIM:170100
HP:0012649	Increased inflammatory response	56246	MRAP	OMIM:607398
HP:0012649	Increased inflammatory response	3417	IDH1	ORPHA:99646
HP:0012649	Increased inflammatory response	6904	TBCD	ORPHA:496641
HP:0012649	Increased inflammatory response	6595	SMARCA2	OMIM:619293
HP:0012649	Increased inflammatory response	4001	LMNB1	OMIM:619179
HP:0012649	Increased inflammatory response	7084	TK2	ORPHA:254875
HP:0012649	Increased inflammatory response	1956	EGFR	OMIM:616069
HP:0012649	Increased inflammatory response	3952	LEP	OMIM:614962
HP:0012649	Increased inflammatory response	8792	TNFRSF11A	OMIM:612301
HP:0012649	Increased inflammatory response	10095	ARPC1B	OMIM:617718
HP:0012649	Increased inflammatory response	7080	NKX2-1	ORPHA:209905
HP:0012649	Increased inflammatory response	79087	ALG12	OMIM:607143
HP:0012649	Increased inflammatory response	79087	ALG12	ORPHA:79324
HP:0012649	Increased inflammatory response	54681	P4HTM	OMIM:618493
HP:0012649	Increased inflammatory response	23594	ORC6	OMIM:613803
HP:0012649	Increased inflammatory response	26040	SETBP1	ORPHA:798
HP:0012649	Increased inflammatory response	64864	RFX7	OMIM:620330
HP:0012649	Increased inflammatory response	2074	ERCC6	OMIM:214150
HP:0012649	Increased inflammatory response	2328	FMO3	OMIM:602079
HP:0012649	Increased inflammatory response	2588	GALNS	OMIM:253000
HP:0012649	Increased inflammatory response	718	C3	OMIM:613779
HP:0012649	Increased inflammatory response	4796	TONSL	ORPHA:93357
HP:0012649	Increased inflammatory response	57169	ZNFX1	OMIM:619644
HP:0012649	Increased inflammatory response	51341	ZBTB7A	OMIM:619769
HP:0012649	Increased inflammatory response	5422	POLA1	OMIM:301220
HP:0012649	Increased inflammatory response	5317	PKP1	ORPHA:158668
HP:0012649	Increased inflammatory response	54941	RNF125	OMIM:616260
HP:0012649	Increased inflammatory response	10747	MASP2	OMIM:613791
HP:0012649	Increased inflammatory response	27040	LAT	OMIM:617514
HP:0012649	Increased inflammatory response	84466	MEGF10	OMIM:620249
HP:0012649	Increased inflammatory response	284119	CAVIN1	OMIM:613327
HP:0012649	Increased inflammatory response	871	SERPINH1	OMIM:613848
HP:0012649	Increased inflammatory response	55294	FBXW7	OMIM:620012
HP:0012649	Increased inflammatory response	5813	PURA	ORPHA:314655
HP:0012649	Increased inflammatory response	4233	MET	OMIM:114550
HP:0012649	Increased inflammatory response	1499	CTNNB1	OMIM:114550
HP:0012649	Increased inflammatory response	8312	AXIN1	OMIM:114550
HP:0012649	Increased inflammatory response	324	APC	OMIM:114550
HP:0012649	Increased inflammatory response	5157	PDGFRL	OMIM:114550
HP:0012649	Increased inflammatory response	3482	IGF2R	OMIM:114550
HP:0012649	Increased inflammatory response	2629	GBA1	ORPHA:2072
HP:0012649	Increased inflammatory response	23592	LEMD3	ORPHA:166119
HP:0012649	Increased inflammatory response	714	C1QC	OMIM:620322
HP:0012649	Increased inflammatory response	727	C5	OMIM:609536
HP:0012649	Increased inflammatory response	1314	COPA	OMIM:616414
HP:0012649	Increased inflammatory response	64170	CARD9	OMIM:212050
HP:0012649	Increased inflammatory response	22806	IKZF3	OMIM:619437
HP:0012649	Increased inflammatory response	4149	MAX	OMIM:620712
HP:0012649	Increased inflammatory response	3110	MNX1	OMIM:176450
HP:0012649	Increased inflammatory response	5371	PML	ORPHA:520
HP:0012649	Increased inflammatory response	5914	RARA	ORPHA:520
HP:0012649	Increased inflammatory response	81608	FIP1L1	ORPHA:520
HP:0012649	Increased inflammatory response	5573	PRKAR1A	ORPHA:520
HP:0012649	Increased inflammatory response	54880	BCOR	ORPHA:520
HP:0012649	Increased inflammatory response	64859	NABP1	ORPHA:520
HP:0012649	Increased inflammatory response	6777	STAT5B	ORPHA:520
HP:0012649	Increased inflammatory response	4926	NUMA1	ORPHA:520
HP:0012649	Increased inflammatory response	7704	ZBTB16	ORPHA:520
HP:0012649	Increased inflammatory response	79718	TBL1XR1	ORPHA:520
HP:0012649	Increased inflammatory response	2642	GCGR	ORPHA:438274
HP:0012649	Increased inflammatory response	3702	ITK	OMIM:613011
HP:0012649	Increased inflammatory response	84876	ORAI1	OMIM:612782
HP:0012649	Increased inflammatory response	399	RHOH	OMIM:618307
HP:0012649	Increased inflammatory response	10379	IRF9	OMIM:618648
HP:0012649	Increased inflammatory response	55788	LMBRD1	OMIM:277380
HP:0012649	Increased inflammatory response	55788	LMBRD1	ORPHA:79284
HP:0012649	Increased inflammatory response	25974	MMACHC	ORPHA:79282
HP:0012649	Increased inflammatory response	3117	HLA-DQA1	OMIM:212750
HP:0012649	Increased inflammatory response	3119	HLA-DQB1	OMIM:212750
HP:0012649	Increased inflammatory response	8942	KYNU	ORPHA:79155
HP:0012649	Increased inflammatory response	959	CD40LG	OMIM:308230
HP:0012649	Increased inflammatory response	54453	RIN2	OMIM:613075
HP:0012649	Increased inflammatory response	6097	RORC	OMIM:616622
HP:0012649	Increased inflammatory response	10525	HYOU1	OMIM:233600
HP:0012649	Increased inflammatory response	10892	MALT1	OMIM:615468
HP:0012649	Increased inflammatory response	148022	TICAM1	OMIM:614850
HP:0012649	Increased inflammatory response	5591	PRKDC	OMIM:615966
HP:0012649	Increased inflammatory response	91662	NLRP12	OMIM:611762
HP:0012649	Increased inflammatory response	374407	DNAJB13	OMIM:617091
HP:0012649	Increased inflammatory response	139212	DNAAF6	OMIM:300991
HP:0012649	Increased inflammatory response	30011	SH3KBP1	OMIM:300310
HP:0012649	Increased inflammatory response	5580	PRKCD	OMIM:615559
HP:0012649	Increased inflammatory response	27148	STK36	OMIM:619436
HP:0012649	Increased inflammatory response	54440	SASH3	OMIM:301082
HP:0012649	Increased inflammatory response	6789	STK4	OMIM:614868
HP:0012649	Increased inflammatory response	345895	RSPH4A	OMIM:612649
HP:0012649	Increased inflammatory response	54499	TMCO1	OMIM:213980
HP:0012649	Increased inflammatory response	9094	UNC119	OMIM:615518
HP:0012649	Increased inflammatory response	54768	HYDIN	OMIM:608647
HP:0012649	Increased inflammatory response	89765	RSPH1	OMIM:615481
HP:0012649	Increased inflammatory response	161582	DNAAF4	OMIM:615482
HP:0012649	Increased inflammatory response	1289	COL5A1	OMIM:130000
HP:0012649	Increased inflammatory response	6813	STXBP2	OMIM:613101
HP:0012649	Increased inflammatory response	54919	DNAAF5	OMIM:614874
HP:0012649	Increased inflammatory response	54014	BRWD1	OMIM:620438
HP:0012649	Increased inflammatory response	51364	ZMYND10	OMIM:615444
HP:0012649	Increased inflammatory response	1767	DNAH5	OMIM:608644
HP:0012649	Increased inflammatory response	85452	CFAP74	OMIM:620197
HP:0012649	Increased inflammatory response	8382	NME5	OMIM:620032
HP:0012649	Increased inflammatory response	3604	TNFRSF9	OMIM:620282
HP:0012649	Increased inflammatory response	84061	MAGT1	OMIM:300853
HP:0012649	Increased inflammatory response	123872	DNAAF1	OMIM:613193
HP:0012649	Increased inflammatory response	1290	COL5A2	OMIM:130010
HP:0012649	Increased inflammatory response	55130	ODAD2	OMIM:615451
HP:0012649	Increased inflammatory response	10625	IVNS1ABP	OMIM:618969
HP:0012649	Increased inflammatory response	4194	MDM4	OMIM:618849
HP:0012649	Increased inflammatory response	3551	IKBKB	OMIM:618204
HP:0012649	Increased inflammatory response	246176	GAS2L2	OMIM:618449
HP:0012649	Increased inflammatory response	6899	TBX1	OMIM:188400
HP:0012649	Increased inflammatory response	93233	ODAD1	OMIM:615067
HP:0012649	Increased inflammatory response	56683	CFAP298	OMIM:615500
HP:0012649	Increased inflammatory response	85478	CCDC65	OMIM:615504
HP:0012649	Increased inflammatory response	6674	SPAG1	OMIM:615505
HP:0012649	Increased inflammatory response	2214	FCGR3A	OMIM:615707
HP:0012649	Increased inflammatory response	4792	NFKBIA	ORPHA:98813
HP:0012649	Increased inflammatory response	23639	DNAAF11	OMIM:614935
HP:0012649	Increased inflammatory response	55172	DNAAF2	OMIM:612518
HP:0012649	Increased inflammatory response	85016	CFAP300	OMIM:618063
HP:0012649	Increased inflammatory response	85016	CFAP300	ORPHA:244
HP:0012649	Increased inflammatory response	83538	ODAD4	OMIM:617092
HP:0012649	Increased inflammatory response	83538	ODAD4	ORPHA:244
HP:0012649	Increased inflammatory response	92749	DRC1	OMIM:615294
HP:0012649	Increased inflammatory response	92749	DRC1	ORPHA:244
HP:0012649	Increased inflammatory response	1770	DNAH9	OMIM:618300
HP:0012649	Increased inflammatory response	1770	DNAH9	ORPHA:244
HP:0012649	Increased inflammatory response	83861	RSPH3	OMIM:616481
HP:0012649	Increased inflammatory response	83861	RSPH3	ORPHA:244
HP:0012649	Increased inflammatory response	79848	CSPP1	OMIM:615636
HP:0012649	Increased inflammatory response	6890	TAP1	OMIM:604571
HP:0012649	Increased inflammatory response	79645	CLXN	OMIM:620642
HP:0012649	Increased inflammatory response	25981	DNAH1	ORPHA:244
HP:0012649	Increased inflammatory response	115948	ODAD3	ORPHA:244
HP:0012649	Increased inflammatory response	115948	ODAD3	OMIM:616037
HP:0012649	Increased inflammatory response	54970	TTC12	ORPHA:244
HP:0012649	Increased inflammatory response	8481	OFD1	ORPHA:244
HP:0012649	Increased inflammatory response	2302	FOXJ1	ORPHA:244
HP:0012649	Increased inflammatory response	2302	FOXJ1	OMIM:618699
HP:0012649	Increased inflammatory response	221421	RSPH9	ORPHA:244
HP:0012649	Increased inflammatory response	221421	RSPH9	OMIM:612650
HP:0012649	Increased inflammatory response	55036	CCDC40	ORPHA:244
HP:0012649	Increased inflammatory response	55036	CCDC40	OMIM:613808
HP:0012649	Increased inflammatory response	83544	DNAL1	ORPHA:244
HP:0012649	Increased inflammatory response	83544	DNAL1	OMIM:614017
HP:0012649	Increased inflammatory response	200373	CFAP221	ORPHA:244
HP:0012649	Increased inflammatory response	2622	GAS8	ORPHA:244
HP:0012649	Increased inflammatory response	79925	SPEF2	ORPHA:244
HP:0012649	Increased inflammatory response	10309	CCNO	ORPHA:244
HP:0012649	Increased inflammatory response	115399	LRRC56	ORPHA:244
HP:0012649	Increased inflammatory response	8701	DNAH11	ORPHA:244
HP:0012649	Increased inflammatory response	146845	CFAP52	OMIM:619607
HP:0012649	Increased inflammatory response	25790	CFAP45	OMIM:619608
HP:0012649	Increased inflammatory response	6891	TAP2	OMIM:620813
HP:0012649	Increased inflammatory response	388389	DNAAF19	OMIM:614679
HP:0012649	Increased inflammatory response	56171	DNAH7	OMIM:620356
HP:0012649	Increased inflammatory response	10295	BCKDK	OMIM:614923
HP:0012649	Increased inflammatory response	22845	DOLK	OMIM:610768
HP:0012649	Increased inflammatory response	7317	UBA1	OMIM:301054
HP:0012649	Increased inflammatory response	57152	SLURP1	ORPHA:87503
HP:0012649	Increased inflammatory response	64127	NOD2	OMIM:617321
HP:0012649	Increased inflammatory response	2683	B4GALT1	ORPHA:79332
HP:0012649	Increased inflammatory response	4072	EPCAM	ORPHA:92050
HP:0012649	Increased inflammatory response	105371045	PERCC1	ORPHA:92050
HP:0012649	Increased inflammatory response	1439	CSF2RB	ORPHA:264675
HP:0012649	Increased inflammatory response	1438	CSF2RA	ORPHA:264675
HP:0012649	Increased inflammatory response	5373	PMM2	ORPHA:79318
HP:0012649	Increased inflammatory response	4784	NFIX	OMIM:602535
HP:0012649	Increased inflammatory response	9342	SNAP29	OMIM:609528
HP:0012649	Increased inflammatory response	55791	LRIF1	OMIM:619477
HP:0012649	Increased inflammatory response	54809	SAMD9	OMIM:617053
HP:0012649	Increased inflammatory response	55037	PTCD3	OMIM:619057
HP:0012649	Increased inflammatory response	2260	FGFR1	ORPHA:220386
HP:0012649	Increased inflammatory response	2260	FGFR1	ORPHA:93924
HP:0012649	Increased inflammatory response	28514	DLL1	ORPHA:220386
HP:0012649	Increased inflammatory response	28514	DLL1	ORPHA:93926
HP:0012649	Increased inflammatory response	28514	DLL1	ORPHA:93924
HP:0012649	Increased inflammatory response	28514	DLL1	ORPHA:93925
HP:0012649	Increased inflammatory response	10735	STAG2	ORPHA:220386
HP:0012649	Increased inflammatory response	10735	STAG2	ORPHA:93925
HP:0012649	Increased inflammatory response	2253	FGF8	ORPHA:220386
HP:0012649	Increased inflammatory response	2253	FGF8	ORPHA:93926
HP:0012649	Increased inflammatory response	2253	FGF8	ORPHA:93924
HP:0012649	Increased inflammatory response	2253	FGF8	ORPHA:93925
HP:0012649	Increased inflammatory response	8243	SMC1A	ORPHA:220386
HP:0012649	Increased inflammatory response	6496	SIX3	ORPHA:220386
HP:0012649	Increased inflammatory response	6496	SIX3	ORPHA:93926
HP:0012649	Increased inflammatory response	6496	SIX3	ORPHA:93924
HP:0012649	Increased inflammatory response	6496	SIX3	ORPHA:93925
HP:0012649	Increased inflammatory response	7050	TGIF1	ORPHA:220386
HP:0012649	Increased inflammatory response	7050	TGIF1	ORPHA:93926
HP:0012649	Increased inflammatory response	7050	TGIF1	ORPHA:93924
HP:0012649	Increased inflammatory response	7050	TGIF1	ORPHA:93925
HP:0012649	Increased inflammatory response	4838	NODAL	ORPHA:220386
HP:0012649	Increased inflammatory response	4838	NODAL	ORPHA:93926
HP:0012649	Increased inflammatory response	4838	NODAL	ORPHA:93924
HP:0012649	Increased inflammatory response	4838	NODAL	ORPHA:93925
HP:0012649	Increased inflammatory response	6469	SHH	ORPHA:220386
HP:0012649	Increased inflammatory response	6469	SHH	ORPHA:93926
HP:0012649	Increased inflammatory response	6469	SHH	ORPHA:93924
HP:0012649	Increased inflammatory response	6469	SHH	ORPHA:93925
HP:0012649	Increased inflammatory response	7546	ZIC2	ORPHA:220386
HP:0012649	Increased inflammatory response	7546	ZIC2	ORPHA:93926
HP:0012649	Increased inflammatory response	7546	ZIC2	ORPHA:93924
HP:0012649	Increased inflammatory response	7546	ZIC2	ORPHA:93925
HP:0012649	Increased inflammatory response	6491	STIL	ORPHA:220386
HP:0012649	Increased inflammatory response	6491	STIL	ORPHA:93926
HP:0012649	Increased inflammatory response	6491	STIL	ORPHA:93924
HP:0012649	Increased inflammatory response	6491	STIL	ORPHA:93925
HP:0012649	Increased inflammatory response	2619	GAS1	ORPHA:220386
HP:0012649	Increased inflammatory response	2619	GAS1	ORPHA:93926
HP:0012649	Increased inflammatory response	2619	GAS1	ORPHA:93924
HP:0012649	Increased inflammatory response	2619	GAS1	ORPHA:93925
HP:0012649	Increased inflammatory response	84976	DISP1	ORPHA:220386
HP:0012649	Increased inflammatory response	84976	DISP1	ORPHA:93926
HP:0012649	Increased inflammatory response	84976	DISP1	ORPHA:93924
HP:0012649	Increased inflammatory response	84976	DISP1	ORPHA:93925
HP:0012649	Increased inflammatory response	2736	GLI2	ORPHA:220386
HP:0012649	Increased inflammatory response	2736	GLI2	ORPHA:93926
HP:0012649	Increased inflammatory response	2736	GLI2	ORPHA:93924
HP:0012649	Increased inflammatory response	2736	GLI2	ORPHA:93925
HP:0012649	Increased inflammatory response	8928	FOXH1	ORPHA:220386
HP:0012649	Increased inflammatory response	8928	FOXH1	ORPHA:93926
HP:0012649	Increased inflammatory response	8928	FOXH1	ORPHA:93924
HP:0012649	Increased inflammatory response	8928	FOXH1	ORPHA:93925
HP:0012649	Increased inflammatory response	6997	CRIPTO	ORPHA:220386
HP:0012649	Increased inflammatory response	6997	CRIPTO	ORPHA:93926
HP:0012649	Increased inflammatory response	6997	CRIPTO	ORPHA:93924
HP:0012649	Increased inflammatory response	6997	CRIPTO	ORPHA:93925
HP:0012649	Increased inflammatory response	5727	PTCH1	ORPHA:220386
HP:0012649	Increased inflammatory response	5727	PTCH1	ORPHA:93926
HP:0012649	Increased inflammatory response	5727	PTCH1	ORPHA:93924
HP:0012649	Increased inflammatory response	5727	PTCH1	ORPHA:93925
HP:0012649	Increased inflammatory response	50937	CDON	ORPHA:220386
HP:0012649	Increased inflammatory response	50937	CDON	ORPHA:93926
HP:0012649	Increased inflammatory response	50937	CDON	ORPHA:93924
HP:0012649	Increased inflammatory response	50937	CDON	ORPHA:93925
HP:0012649	Increased inflammatory response	27125	AFF4	OMIM:616368
HP:0012649	Increased inflammatory response	27125	AFF4	ORPHA:444077
HP:0012649	Increased inflammatory response	6597	SMARCA4	ORPHA:1465
HP:0012649	Increased inflammatory response	6598	SMARCB1	ORPHA:1465
HP:0012649	Increased inflammatory response	6659	SOX4	ORPHA:1465
HP:0012649	Increased inflammatory response	8289	ARID1A	ORPHA:1465
HP:0012649	Increased inflammatory response	6601	SMARCC2	ORPHA:1465
HP:0012649	Increased inflammatory response	6602	SMARCD1	ORPHA:1465
HP:0012649	Increased inflammatory response	57492	ARID1B	ORPHA:1465
HP:0012649	Increased inflammatory response	196528	ARID2	ORPHA:1465
HP:0012649	Increased inflammatory response	6605	SMARCE1	ORPHA:1465
HP:0012649	Increased inflammatory response	6664	SOX11	ORPHA:1465
HP:0012649	Increased inflammatory response	8398	PLA2G6	ORPHA:35069
HP:0012649	Increased inflammatory response	5048	PAFAH1B1	ORPHA:95232
HP:0012649	Increased inflammatory response	526	ATP6V1B2	ORPHA:79500
HP:0012649	Increased inflammatory response	57465	TBC1D24	ORPHA:79500
HP:0012649	Increased inflammatory response	9896	FIG4	OMIM:216340
HP:0012649	Increased inflammatory response	1678	TIMM8A	ORPHA:52368
HP:0012649	Increased inflammatory response	283446	MYO1H	OMIM:619482
HP:0012649	Increased inflammatory response	4633	MYL2	ORPHA:2020
HP:0012649	Increased inflammatory response	3679	ITGA7	ORPHA:2020
HP:0012649	Increased inflammatory response	7169	TPM2	ORPHA:2020
HP:0012649	Increased inflammatory response	9200	HACD1	ORPHA:2020
HP:0012649	Increased inflammatory response	7170	TPM3	ORPHA:2020
HP:0012649	Increased inflammatory response	51776	MAP3K20	ORPHA:2020
HP:0012649	Increased inflammatory response	80025	PANK2	ORPHA:216866
HP:0012649	Increased inflammatory response	92935	MARS2	OMIM:616430
HP:0012649	Increased inflammatory response	4700	NDUFA6	OMIM:618253
HP:0012649	Increased inflammatory response	6392	SDHD	OMIM:619167
HP:0012649	Increased inflammatory response	10342	TFG	ORPHA:90117
HP:0012649	Increased inflammatory response	23007	PLCH1	ORPHA:93925
HP:0012649	Increased inflammatory response	2720	GLB1	ORPHA:79255
HP:0012649	Increased inflammatory response	1288	COL4A6	ORPHA:1018
HP:0012649	Increased inflammatory response	356	FASLG	ORPHA:3261
HP:0012649	Increased inflammatory response	9420	CYP7B1	OMIM:613812
HP:0012649	Increased inflammatory response	9780	PIEZO1	OMIM:194380
HP:0012649	Increased inflammatory response	7174	TPP2	ORPHA:444463
HP:0012649	Increased inflammatory response	2990	GUSB	ORPHA:584
HP:0012649	Increased inflammatory response	57511	COG6	ORPHA:363523
HP:0012649	Increased inflammatory response	83737	ITCH	OMIM:613385
HP:0012649	Increased inflammatory response	83737	ITCH	ORPHA:228426
HP:0012649	Increased inflammatory response	169792	GLIS3	OMIM:610199
HP:0012649	Increased inflammatory response	23729	SHPK	ORPHA:440713
HP:0012649	Increased inflammatory response	10166	SLC25A15	ORPHA:415
HP:0012649	Increased inflammatory response	9095	TBX19	ORPHA:199296
HP:0012649	Increased inflammatory response	5236	PGM1	OMIM:614921
HP:0012649	Increased inflammatory response	5297	PI4KA	ORPHA:436252
HP:0012649	Increased inflammatory response	57217	TTC7A	ORPHA:436252
HP:0012649	Increased inflammatory response	10092	ARPC5	OMIM:620565
HP:0012649	Increased inflammatory response	1581	CYP7A1	ORPHA:209902
HP:0012649	Increased inflammatory response	84818	IL17RC	ORPHA:1334
HP:0012649	Increased inflammatory response	64581	CLEC7A	ORPHA:1334
HP:0012649	Increased inflammatory response	10758	TRAF3IP2	ORPHA:1334
HP:0012649	Increased inflammatory response	112744	IL17F	ORPHA:1334
HP:0012649	Increased inflammatory response	330	BIRC3	ORPHA:52417
HP:0012649	Increased inflammatory response	3492	IGH	ORPHA:52417
HP:0012649	Increased inflammatory response	56244	BTNL2	OMIM:612387
HP:0012649	Increased inflammatory response	56244	BTNL2	ORPHA:797
HP:0012649	Increased inflammatory response	55851	PSENEN	OMIM:613736
HP:0012649	Increased inflammatory response	5663	PSEN1	OMIM:613737
HP:0012649	Increased inflammatory response	9203	ZMYM3	OMIM:301111
HP:0012649	Increased inflammatory response	51726	DNAJB11	ORPHA:730
HP:0012649	Increased inflammatory response	23193	GANAB	ORPHA:730
HP:0012649	Increased inflammatory response	5310	PKD1	ORPHA:730
HP:0012649	Increased inflammatory response	5311	PKD2	ORPHA:730
HP:0012649	Increased inflammatory response	29880	ALG5	ORPHA:730
HP:0012649	Increased inflammatory response	79796	ALG9	ORPHA:730
HP:0012649	Increased inflammatory response	80114	BICC1	ORPHA:730
HP:0012649	Increased inflammatory response	284252	KCTD1	OMIM:181270
HP:0012649	Increased inflammatory response	284252	KCTD1	ORPHA:2036
HP:0012649	Increased inflammatory response	4629	MYH11	OMIM:619351
HP:0012649	Increased inflammatory response	7498	XDH	OMIM:278300
HP:0012649	Increased inflammatory response	2006	ELN	ORPHA:90348
HP:0012649	Increased inflammatory response	10516	FBLN5	ORPHA:90348
HP:0012649	Increased inflammatory response	10516	FBLN5	ORPHA:90349
HP:0012649	Increased inflammatory response	5832	ALDH18A1	ORPHA:90348
HP:0012649	Increased inflammatory response	4052	LTBP1	ORPHA:90349
HP:0012649	Increased inflammatory response	30008	EFEMP2	ORPHA:90349
HP:0012649	Increased inflammatory response	3209	HOXA13	OMIM:140000
HP:0012649	Increased inflammatory response	54796	BNC2	ORPHA:93110
HP:0012649	Increased inflammatory response	56984	PSMG2	OMIM:619183
HP:0012649	Increased inflammatory response	114803	MYSM1	ORPHA:508542
HP:0012649	Increased inflammatory response	84868	HAVCR2	OMIM:618398
HP:0012649	Increased inflammatory response	84868	HAVCR2	ORPHA:86884
HP:0012649	Increased inflammatory response	90268	OTULIN	OMIM:617099
HP:0012649	Increased inflammatory response	139818	DOCK11	OMIM:301109
HP:0012649	Increased inflammatory response	51816	ADA2	OMIM:615688
HP:0012649	Increased inflammatory response	3832	KIF11	ORPHA:2526
HP:0012649	Increased inflammatory response	3932	LCK	OMIM:615758
HP:0012649	Increased inflammatory response	5777	PTPN6	ORPHA:3243
HP:0012649	Increased inflammatory response	10535	RNASEH2A	ORPHA:51
HP:0012649	Increased inflammatory response	84153	RNASEH2C	ORPHA:51
HP:0012649	Increased inflammatory response	25939	SAMHD1	ORPHA:51
HP:0012649	Increased inflammatory response	79621	RNASEH2B	ORPHA:51
HP:0012649	Increased inflammatory response	103	ADAR	ORPHA:51
HP:0012649	Increased inflammatory response	100147744	RNU7-1	ORPHA:51
HP:0012649	Increased inflammatory response	134353	LSM11	ORPHA:51
HP:0012649	Increased inflammatory response	3716	JAK1	OMIM:618999
HP:0012649	Increased inflammatory response	55243	KIRREL1	OMIM:619201
HP:0012649	Increased inflammatory response	8270	LAGE3	OMIM:301006
HP:0012649	Increased inflammatory response	25959	KANK2	OMIM:617783
HP:0012649	Increased inflammatory response	6399	TRAPPC2	ORPHA:93284
HP:0012649	Increased inflammatory response	9051	PSTPIP1	ORPHA:69126
HP:0012649	Increased inflammatory response	3459	IFNGR1	OMIM:209950
HP:0012649	Increased inflammatory response	3459	IFNGR1	ORPHA:117
HP:0012649	Increased inflammatory response	3593	IL12B	ORPHA:3287
HP:0012649	Increased inflammatory response	3106	HLA-B	ORPHA:3287
HP:0012649	Increased inflammatory response	3106	HLA-B	ORPHA:117
HP:0012649	Increased inflammatory response	6945	MLX	ORPHA:3287
HP:0012649	Increased inflammatory response	1493	CTLA4	ORPHA:900
HP:0012649	Increased inflammatory response	26191	PTPN22	ORPHA:900
HP:0012649	Increased inflammatory response	3115	HLA-DPB1	ORPHA:900
HP:0012649	Increased inflammatory response	5657	PRTN3	ORPHA:900
HP:0012649	Increased inflammatory response	3113	HLA-DPA1	ORPHA:900
HP:0012649	Increased inflammatory response	4982	TNFRSF11B	ORPHA:1416
HP:0012649	Increased inflammatory response	56172	ANKH	ORPHA:1416
HP:0012649	Increased inflammatory response	149233	IL23R	ORPHA:117
HP:0012649	Increased inflammatory response	6775	STAT4	ORPHA:117
HP:0012649	Increased inflammatory response	3586	IL10	ORPHA:117
HP:0012649	Increased inflammatory response	4210	MEFV	ORPHA:117
HP:0012649	Increased inflammatory response	1230	CCR1	ORPHA:117
HP:0012649	Increased inflammatory response	355	FAS	ORPHA:117
HP:0012649	Increased inflammatory response	3592	IL12A	ORPHA:117
HP:0012649	Increased inflammatory response	101928376	IL12A-AS1	ORPHA:117
HP:0012649	Increased inflammatory response	7099	TLR4	ORPHA:117
HP:0012649	Increased inflammatory response	720	C4A	ORPHA:117
HP:0012649	Increased inflammatory response	337867	UBAC2	ORPHA:117
HP:0012649	Increased inflammatory response	51752	ERAP1	ORPHA:117
HP:0012649	Increased inflammatory response	8302	KLRC4	ORPHA:117
HP:0012649	Increased inflammatory response	3588	IL10RB	OMIM:612567
HP:0012649	Increased inflammatory response	3872	KRT17	OMIM:167210
HP:0012649	Increased inflammatory response	7156	TOP3A	OMIM:618097
HP:0012649	Increased inflammatory response	8558	CDK10	OMIM:617694
HP:0012649	Increased inflammatory response	9968	MED12	OMIM:301068
HP:0012649	Increased inflammatory response	215	ABCD1	ORPHA:369942
HP:0012649	Increased inflammatory response	10134	BCAP31	ORPHA:369942
HP:0012649	Increased inflammatory response	9742	IFT140	OMIM:266920
HP:0012649	Increased inflammatory response	50615	IL21R	OMIM:615207
HP:0012649	Increased inflammatory response	57539	WDR35	OMIM:613610
HP:0012649	Increased inflammatory response	26525	IL36RN	OMIM:614204
HP:0012649	Increased inflammatory response	617	BCS1L	OMIM:124000
HP:0012649	Increased inflammatory response	199221	DZIP1L	ORPHA:731
HP:0012649	Increased inflammatory response	5314	PKHD1	ORPHA:731
HP:0012649	Increased inflammatory response	5314	PKHD1	ORPHA:53035
HP:0012649	Increased inflammatory response	8318	CDC45	OMIM:617063
HP:0012649	Increased inflammatory response	9076	CLDN1	OMIM:607626
HP:0012649	Increased inflammatory response	51473	DCDC2	OMIM:617394
HP:0012649	Increased inflammatory response	113220	KIF12	OMIM:619662
HP:0012649	Increased inflammatory response	3939	LDHA	ORPHA:284426
HP:0012649	Increased inflammatory response	54795	TRPM4	OMIM:618531
HP:0012649	Increased inflammatory response	219972	MPEG1	OMIM:619223
HP:0012649	Increased inflammatory response	84342	COG8	OMIM:611182
HP:0012649	Increased inflammatory response	8547	FCN3	OMIM:613860
HP:0012649	Increased inflammatory response	2271	FH	OMIM:606812
HP:0012649	Increased inflammatory response	84992	PIGY	OMIM:616809
HP:0012649	Increased inflammatory response	50619	DEF6	OMIM:619573
HP:0012649	Increased inflammatory response	5950	RBP4	OMIM:615147
HP:0012649	Increased inflammatory response	23385	NCSTN	OMIM:142690
HP:0012649	Increased inflammatory response	56983	POGLUT1	ORPHA:79145
HP:0012649	Increased inflammatory response	23509	POFUT1	ORPHA:79145
HP:0012649	Increased inflammatory response	171023	ASXL1	ORPHA:98850
HP:0012649	Increased inflammatory response	54790	TET2	ORPHA:98850
HP:0012649	Increased inflammatory response	867	CBL	ORPHA:98850
HP:0012649	Increased inflammatory response	861	RUNX1	ORPHA:98850
HP:0012649	Increased inflammatory response	6427	SRSF2	ORPHA:98850
HP:0012649	Increased inflammatory response	2038	EPB42	ORPHA:822
HP:0012649	Increased inflammatory response	6521	SLC4A1	ORPHA:822
HP:0012649	Increased inflammatory response	6710	SPTB	ORPHA:822
HP:0012649	Increased inflammatory response	6708	SPTA1	ORPHA:822
HP:0012649	Increased inflammatory response	286	ANK1	ORPHA:822
HP:0012649	Increased inflammatory response	25942	SIN3A	OMIM:613406
HP:0012649	Increased inflammatory response	55719	SLF2	OMIM:620184
HP:0012649	Increased inflammatory response	3684	ITGAM	ORPHA:536
HP:0012649	Increased inflammatory response	221895	JAZF1	ORPHA:536
HP:0012649	Increased inflammatory response	7292	TNFSF4	ORPHA:536
HP:0012649	Increased inflammatory response	640	BLK	ORPHA:536
HP:0012649	Increased inflammatory response	55024	BANK1	ORPHA:536
HP:0012649	Increased inflammatory response	3500	IGHG1	ORPHA:536
HP:0012649	Increased inflammatory response	5133	PDCD1	ORPHA:536
HP:0012649	Increased inflammatory response	2113	ETS1	ORPHA:536
HP:0012649	Increased inflammatory response	10318	TNIP1	ORPHA:536
HP:0012649	Increased inflammatory response	7332	UBE2L3	ORPHA:536
HP:0012649	Increased inflammatory response	79932	KIAA0319L	ORPHA:536
HP:0012649	Increased inflammatory response	4204	MECP2	ORPHA:536
HP:0012649	Increased inflammatory response	3123	HLA-DRB1	ORPHA:536
HP:0012649	Increased inflammatory response	721	C4B	ORPHA:536
HP:0012649	Increased inflammatory response	51284	TLR7	ORPHA:536
HP:0012649	Increased inflammatory response	54899	PXK	ORPHA:536
HP:0012649	Increased inflammatory response	7128	TNFAIP3	ORPHA:536
HP:0012649	Increased inflammatory response	857	CAV1	OMIM:606721
HP:0012649	Increased inflammatory response	4558	MT-TF	ORPHA:550
HP:0012649	Increased inflammatory response	4572	MT-TQ	ORPHA:550
HP:0012649	Increased inflammatory response	4513	MT-CO2	ORPHA:550
HP:0012649	Increased inflammatory response	4578	MT-TW	ORPHA:550
HP:0012649	Increased inflammatory response	4540	MT-ND5	ORPHA:550
HP:0012649	Increased inflammatory response	4541	MT-ND6	ORPHA:550
HP:0012649	Increased inflammatory response	4535	MT-ND1	ORPHA:550
HP:0012649	Increased inflammatory response	4538	MT-ND4	ORPHA:550
HP:0012649	Increased inflammatory response	4567	MT-TL1	ORPHA:550
HP:0012649	Increased inflammatory response	4574	MT-TS1	ORPHA:550
HP:0012649	Increased inflammatory response	4575	MT-TS2	ORPHA:550
HP:0012649	Increased inflammatory response	4564	MT-TH	ORPHA:550
HP:0012649	Increased inflammatory response	55503	TRPV6	ORPHA:676
HP:0012649	Increased inflammatory response	1357	CPA1	ORPHA:676
HP:0012649	Increased inflammatory response	27178	IL37	OMIM:619398
HP:0012649	Increased inflammatory response	29775	CARD10	OMIM:619632
HP:0012649	Increased inflammatory response	60468	BACH2	OMIM:618394
HP:0012649	Increased inflammatory response	55765	INAVA	OMIM:618077
HP:0012649	Increased inflammatory response	96459	FNIP1	OMIM:619705
HP:0012649	Increased inflammatory response	3587	IL10RA	OMIM:613148
HP:0012649	Increased inflammatory response	2984	GUCY2C	OMIM:614616
HP:0012649	Increased inflammatory response	2623	GATA1	ORPHA:79277
HP:0012649	Increased inflammatory response	7389	UROD	ORPHA:95159
HP:0012649	Increased inflammatory response	3105	HLA-A	ORPHA:179
HP:0012649	Increased inflammatory response	2261	FGFR3	ORPHA:93262
HP:0012649	Increased inflammatory response	8626	TP63	ORPHA:1896
HP:0012649	Increased inflammatory response	114548	NLRP3	ORPHA:1451
HP:0012649	Increased inflammatory response	224	ALDH3A2	ORPHA:816
HP:0012649	Increased inflammatory response	1776	DNASE1L3	ORPHA:36412
HP:0012649	Increased inflammatory response	8314	BAP1	ORPHA:39044
HP:0012649	Increased inflammatory response	57105	CYSLTR2	ORPHA:39044
HP:0012649	Increased inflammatory response	2776	GNAQ	ORPHA:39044
HP:0012649	Increased inflammatory response	23451	SF3B1	ORPHA:39044
HP:0012649	Increased inflammatory response	7132	TNFRSF1A	ORPHA:32960
HP:0012649	Increased inflammatory response	3655	ITGA6	ORPHA:79403
HP:0012649	Increased inflammatory response	3691	ITGB4	ORPHA:79403
HP:0012649	Increased inflammatory response	340061	STING1	OMIM:615934
HP:0012649	Increased inflammatory response	825	CAPN3	OMIM:253600
HP:0012649	Increased inflammatory response	3181	HNRNPA2B1	OMIM:615422
HP:0012649	Increased inflammatory response	84033	OBSCN	ORPHA:99845
HP:0012649	Increased inflammatory response	23175	LPIN1	ORPHA:99845
HP:0012649	Increased inflammatory response	4512	MT-CO1	ORPHA:99845
HP:0012649	Increased inflammatory response	4514	MT-CO3	ORPHA:99845
HP:0012649	Increased inflammatory response	3662	IRF4	ORPHA:3452
HP:0012649	Increased inflammatory response	3908	LAMA2	ORPHA:258
HP:0012649	Increased inflammatory response	4221	MEN1	OMIM:131100
HP:0012649	Increased inflammatory response	22900	CARD8	OMIM:619079
HP:0012649	Increased inflammatory response	60684	TRAPPC11	OMIM:615356
HP:0012649	Increased inflammatory response	3376	IARS1	ORPHA:541423
HP:0012649	Increased inflammatory response	81031	SLC2A10	ORPHA:3342
HP:0012649	Increased inflammatory response	9719	ADAMTSL2	ORPHA:1901
HP:0012649	Increased inflammatory response	9509	ADAMTS2	ORPHA:1901
HP:0012649	Increased inflammatory response	2887	GRB10	ORPHA:96182
HP:0012649	Increased inflammatory response	2743	GLRB	ORPHA:3197
HP:0012649	Increased inflammatory response	2741	GLRA1	ORPHA:3197
HP:0012649	Increased inflammatory response	10243	GPHN	ORPHA:3197
HP:0012649	Increased inflammatory response	84896	ATAD1	ORPHA:3197
HP:0012649	Increased inflammatory response	9152	SLC6A5	ORPHA:3197
HP:0012649	Increased inflammatory response	7543	ZFX	OMIM:301118
HP:0012649	Increased inflammatory response	6812	STXBP1	ORPHA:495818
HP:0012649	Increased inflammatory response	5723	PSPH	ORPHA:79350
HP:0012649	Increased inflammatory response	26227	PHGDH	ORPHA:79351
HP:0012649	Increased inflammatory response	1027	CDKN1B	ORPHA:276152
HP:0012649	Increased inflammatory response	8651	SOCS1	OMIM:619375
HP:0012649	Increased inflammatory response	7038	TG	OMIM:608175
HP:0012649	Increased inflammatory response	57623	ZFAT	OMIM:608175
HP:0012649	Increased inflammatory response	22861	NLRP1	OMIM:617388
HP:0012649	Increased inflammatory response	5290	PIK3CA	OMIM:615108
HP:0012649	Increased inflammatory response	207	AKT1	OMIM:615109
HP:0012649	Increased inflammatory response	3559	IL2RA	OMIM:606367
HP:0012649	Increased inflammatory response	5428	POLG	ORPHA:254886
HP:0012649	Increased inflammatory response	9692	PRORP	OMIM:619737
HP:0012649	Increased inflammatory response	7319	UBE2A	ORPHA:163956
HP:0012649	Increased inflammatory response	55630	SLC39A4	ORPHA:37
HP:0012649	Increased inflammatory response	1508	CTSB	ORPHA:50943
HP:0012649	Increased inflammatory response	23600	AMACR	ORPHA:79095
HP:0012649	Increased inflammatory response	23600	AMACR	OMIM:214950
HP:0012649	Increased inflammatory response	80270	HSD3B7	OMIM:607765
HP:0012649	Increased inflammatory response	63894	VIPAS39	OMIM:613404
HP:0012649	Increased inflammatory response	26276	VPS33B	OMIM:208085
HP:0012649	Increased inflammatory response	6718	AKR1D1	ORPHA:79303
HP:0012649	Increased inflammatory response	6499	SKIC2	OMIM:614602
HP:0012649	Increased inflammatory response	4088	SMAD3	OMIM:613795
HP:0012649	Increased inflammatory response	7046	TGFBR1	OMIM:609192
HP:0012649	Increased inflammatory response	7048	TGFBR2	OMIM:610168
HP:0012649	Increased inflammatory response	7042	TGFB2	OMIM:614816
HP:0012649	Increased inflammatory response	7043	TGFB3	OMIM:615582
HP:0012649	Increased inflammatory response	1777	DNASE2	OMIM:619858
HP:0007346	Subcortical white matter calcifications	1161	ERCC8	ORPHA:90324
HP:0007346	Subcortical white matter calcifications	1161	ERCC8	ORPHA:90322
HP:0007346	Subcortical white matter calcifications	2074	ERCC6	ORPHA:90324
HP:0007346	Subcortical white matter calcifications	2074	ERCC6	OMIM:133540
HP:0007346	Subcortical white matter calcifications	2074	ERCC6	ORPHA:90322
HP:0007346	Subcortical white matter calcifications	727676	SNORD118	ORPHA:542310
HP:0007346	Subcortical white matter calcifications	3735	KARS1	ORPHA:3240
HP:0007346	Subcortical white matter calcifications	79903	NAA60	OMIM:620786
HP:0007346	Subcortical white matter calcifications	2067	ERCC1	ORPHA:90322
HP:0007348	Hypoplasia of the pyramidal tract	2218	FKTN	OMIM:253800
HP:0033477	Abnormal circulating lipoprotein lipase concentration	23019	CNOT1	ORPHA:556955
HP:0033477	Abnormal circulating lipoprotein lipase concentration	4000	LMNA	OMIM:151660
HP:0033476	Extractable nuclear antigen positivity	2215	FCGR3B	ORPHA:536
HP:0033476	Extractable nuclear antigen positivity	6775	STAT4	ORPHA:536
HP:0033476	Extractable nuclear antigen positivity	3684	ITGAM	ORPHA:536
HP:0033476	Extractable nuclear antigen positivity	3586	IL10	ORPHA:536
HP:0033476	Extractable nuclear antigen positivity	221895	JAZF1	ORPHA:536
HP:0033476	Extractable nuclear antigen positivity	11277	TREX1	ORPHA:536
HP:0033476	Extractable nuclear antigen positivity	7292	TNFSF4	ORPHA:536
HP:0033476	Extractable nuclear antigen positivity	640	BLK	ORPHA:536
HP:0033476	Extractable nuclear antigen positivity	720	C4A	ORPHA:536
HP:0033476	Extractable nuclear antigen positivity	55024	BANK1	ORPHA:536
HP:0033476	Extractable nuclear antigen positivity	3500	IGHG1	ORPHA:536
HP:0033476	Extractable nuclear antigen positivity	3654	IRAK1	ORPHA:536
HP:0033476	Extractable nuclear antigen positivity	1493	CTLA4	ORPHA:536
HP:0033476	Extractable nuclear antigen positivity	26191	PTPN22	ORPHA:536
HP:0033476	Extractable nuclear antigen positivity	1380	CR2	ORPHA:536
HP:0033476	Extractable nuclear antigen positivity	5133	PDCD1	ORPHA:536
HP:0033476	Extractable nuclear antigen positivity	2113	ETS1	ORPHA:536
HP:0033476	Extractable nuclear antigen positivity	2213	FCGR2B	ORPHA:536
HP:0033476	Extractable nuclear antigen positivity	10318	TNIP1	ORPHA:536
HP:0033476	Extractable nuclear antigen positivity	7332	UBE2L3	ORPHA:536
HP:0033476	Extractable nuclear antigen positivity	79932	KIAA0319L	ORPHA:536
HP:0033476	Extractable nuclear antigen positivity	4204	MECP2	ORPHA:536
HP:0033476	Extractable nuclear antigen positivity	3663	IRF5	ORPHA:536
HP:0033476	Extractable nuclear antigen positivity	3123	HLA-DRB1	ORPHA:536
HP:0033476	Extractable nuclear antigen positivity	721	C4B	ORPHA:536
HP:0033476	Extractable nuclear antigen positivity	1773	DNASE1	ORPHA:536
HP:0033476	Extractable nuclear antigen positivity	51284	TLR7	ORPHA:536
HP:0033476	Extractable nuclear antigen positivity	6696	SPP1	ORPHA:536
HP:0033476	Extractable nuclear antigen positivity	54899	PXK	ORPHA:536
HP:0033476	Extractable nuclear antigen positivity	7128	TNFAIP3	ORPHA:536
HP:0033476	Extractable nuclear antigen positivity	139818	DOCK11	OMIM:301109
HP:0033476	Extractable nuclear antigen positivity	8651	SOCS1	OMIM:619375
HP:0033476	Extractable nuclear antigen positivity	4067	LYN	OMIM:620376
HP:0033476	Extractable nuclear antigen positivity	713	C1QB	OMIM:620321
HP:0033479	Abnormal circulating bilirubin concentration	4953	ODC1	OMIM:619075
HP:0033479	Abnormal circulating bilirubin concentration	229	ALDOB	OMIM:229600
HP:0033479	Abnormal circulating bilirubin concentration	57680	CHD8	OMIM:615032
HP:0033479	Abnormal circulating bilirubin concentration	6006	RHCE	OMIM:617970
HP:0033479	Abnormal circulating bilirubin concentration	6006	RHCE	ORPHA:71275
HP:0033479	Abnormal circulating bilirubin concentration	54914	FOCAD	OMIM:619991
HP:0033479	Abnormal circulating bilirubin concentration	2936	GSR	OMIM:618660
HP:0033479	Abnormal circulating bilirubin concentration	6711	SPTBN1	OMIM:619475
HP:0033479	Abnormal circulating bilirubin concentration	3783	KCNN4	OMIM:616689
HP:0033479	Abnormal circulating bilirubin concentration	3145	HMBS	OMIM:620704
HP:0033479	Abnormal circulating bilirubin concentration	222546	RFX6	OMIM:615710
HP:0033479	Abnormal circulating bilirubin concentration	100151683	RNU4ATAC	OMIM:210710
HP:0033479	Abnormal circulating bilirubin concentration	132	ADK	OMIM:614300
HP:0033479	Abnormal circulating bilirubin concentration	6710	SPTB	OMIM:616649
HP:0033479	Abnormal circulating bilirubin concentration	6710	SPTB	ORPHA:822
HP:0033479	Abnormal circulating bilirubin concentration	6710	SPTB	ORPHA:288
HP:0033479	Abnormal circulating bilirubin concentration	57539	WDR35	OMIM:613610
HP:0033479	Abnormal circulating bilirubin concentration	9420	CYP7B1	OMIM:613812
HP:0033479	Abnormal circulating bilirubin concentration	9420	CYP7B1	ORPHA:79302
HP:0033479	Abnormal circulating bilirubin concentration	23600	AMACR	OMIM:214950
HP:0033479	Abnormal circulating bilirubin concentration	2623	GATA1	OMIM:301083
HP:0033479	Abnormal circulating bilirubin concentration	286	ANK1	OMIM:182900
HP:0033479	Abnormal circulating bilirubin concentration	286	ANK1	ORPHA:822
HP:0033479	Abnormal circulating bilirubin concentration	2038	EPB42	ORPHA:822
HP:0033479	Abnormal circulating bilirubin concentration	6521	SLC4A1	ORPHA:822
HP:0033479	Abnormal circulating bilirubin concentration	6521	SLC4A1	OMIM:612653
HP:0033479	Abnormal circulating bilirubin concentration	6708	SPTA1	ORPHA:822
HP:0033479	Abnormal circulating bilirubin concentration	6708	SPTA1	ORPHA:288
HP:0033479	Abnormal circulating bilirubin concentration	6718	AKR1D1	ORPHA:79303
HP:0033479	Abnormal circulating bilirubin concentration	6718	AKR1D1	OMIM:235555
HP:0033479	Abnormal circulating bilirubin concentration	10165	SLC25A13	OMIM:605814
HP:0033479	Abnormal circulating bilirubin concentration	10165	SLC25A13	ORPHA:247598
HP:0033479	Abnormal circulating bilirubin concentration	7849	PAX8	OMIM:218700
HP:0033479	Abnormal circulating bilirubin concentration	5443	POMC	OMIM:609734
HP:0033479	Abnormal circulating bilirubin concentration	6573	SLC19A1	OMIM:601775
HP:0033479	Abnormal circulating bilirubin concentration	55610	VPS50	OMIM:619685
HP:0033479	Abnormal circulating bilirubin concentration	6514	SLC2A2	OMIM:227810
HP:0033479	Abnormal circulating bilirubin concentration	374879	ZNF699	OMIM:619488
HP:0033479	Abnormal circulating bilirubin concentration	5205	ATP8B1	ORPHA:69665
HP:0033479	Abnormal circulating bilirubin concentration	8647	ABCB11	ORPHA:69665
HP:0033479	Abnormal circulating bilirubin concentration	5244	ABCB4	ORPHA:69665
HP:0033479	Abnormal circulating bilirubin concentration	9971	NR1H4	ORPHA:69665
HP:0033479	Abnormal circulating bilirubin concentration	3098	HK1	OMIM:235700
HP:0033479	Abnormal circulating bilirubin concentration	226	ALDOA	OMIM:611881
HP:0033479	Abnormal circulating bilirubin concentration	5015	OTX2	OMIM:613986
HP:0033479	Abnormal circulating bilirubin concentration	9338	TCEAL1	OMIM:301094
HP:0033479	Abnormal circulating bilirubin concentration	540	ATP7B	OMIM:277900
HP:0033479	Abnormal circulating bilirubin concentration	2271	FH	OMIM:606812
HP:0033479	Abnormal circulating bilirubin concentration	9968	MED12	OMIM:301068
HP:0033479	Abnormal circulating bilirubin concentration	9493	KIF23	ORPHA:98870
HP:0033479	Abnormal circulating bilirubin concentration	29127	RACGAP1	ORPHA:98870
HP:0033479	Abnormal circulating bilirubin concentration	6005	RHAG	OMIM:185000
HP:0033479	Abnormal circulating bilirubin concentration	6005	RHAG	ORPHA:71275
HP:0033479	Abnormal circulating bilirubin concentration	55687	TRMU	OMIM:613070
HP:0033479	Abnormal circulating bilirubin concentration	79989	IFT56	OMIM:619534
HP:0033479	Abnormal circulating bilirubin concentration	3930	LBR	OMIM:613471
HP:0033479	Abnormal circulating bilirubin concentration	7019	TFAM	OMIM:617156
HP:0033479	Abnormal circulating bilirubin concentration	8260	NAA10	OMIM:300855
HP:0033479	Abnormal circulating bilirubin concentration	10661	KLF1	OMIM:613673
HP:0033479	Abnormal circulating bilirubin concentration	4358	MPV17	OMIM:256810
HP:0033479	Abnormal circulating bilirubin concentration	5824	PEX19	OMIM:614886
HP:0033479	Abnormal circulating bilirubin concentration	9451	EIF2AK3	ORPHA:1667
HP:0033479	Abnormal circulating bilirubin concentration	1716	DGUOK	OMIM:251880
HP:0033479	Abnormal circulating bilirubin concentration	28962	OSTM1	OMIM:259720
HP:0033479	Abnormal circulating bilirubin concentration	2035	EPB41	ORPHA:288
HP:0033479	Abnormal circulating bilirubin concentration	2995	GYPC	ORPHA:288
HP:0033479	Abnormal circulating bilirubin concentration	4547	MTTP	ORPHA:14
HP:0033479	Abnormal circulating bilirubin concentration	51251	NT5C3A	OMIM:266120
HP:0033479	Abnormal circulating bilirubin concentration	5825	ABCD3	OMIM:616278
HP:0033479	Abnormal circulating bilirubin concentration	146059	CDAN1	OMIM:224120
HP:0033479	Abnormal circulating bilirubin concentration	5230	PGK1	ORPHA:713
HP:0033479	Abnormal circulating bilirubin concentration	28234	SLCO1B3	ORPHA:3111
HP:0033479	Abnormal circulating bilirubin concentration	10599	SLCO1B1	ORPHA:3111
HP:0033479	Abnormal circulating bilirubin concentration	26276	VPS33B	OMIM:620010
HP:0033479	Abnormal circulating bilirubin concentration	6007	RHD	ORPHA:71275
HP:0033479	Abnormal circulating bilirubin concentration	6309	SC5D	OMIM:607330
HP:0033479	Abnormal circulating bilirubin concentration	1244	ABCC2	ORPHA:234
HP:0033479	Abnormal circulating bilirubin concentration	1244	ABCC2	OMIM:237500
HP:0033479	Abnormal circulating bilirubin concentration	80270	HSD3B7	OMIM:607765
HP:0033479	Abnormal circulating bilirubin concentration	3376	IARS1	OMIM:617093
HP:0033479	Abnormal circulating bilirubin concentration	51218	GLRX5	OMIM:616860
HP:0033479	Abnormal circulating bilirubin concentration	2629	GBA1	ORPHA:85212
HP:0033479	Abnormal circulating bilirubin concentration	26503	SLC17A5	OMIM:269920
HP:0033479	Abnormal circulating bilirubin concentration	570	BAAT	OMIM:619232
HP:0033479	Abnormal circulating bilirubin concentration	3643	INSR	OMIM:246200
HP:0033479	Abnormal circulating bilirubin concentration	11232	POLG2	OMIM:618528
HP:0033479	Abnormal circulating bilirubin concentration	5828	PEX2	OMIM:614866
HP:0033479	Abnormal circulating bilirubin concentration	6091	ROBO1	OMIM:620305
HP:0033479	Abnormal circulating bilirubin concentration	5195	PEX14	OMIM:614887
HP:0033479	Abnormal circulating bilirubin concentration	6513	SLC2A1	ORPHA:168577
HP:0033479	Abnormal circulating bilirubin concentration	6513	SLC2A1	OMIM:608885
HP:0033479	Abnormal circulating bilirubin concentration	5314	PKHD1	ORPHA:53035
HP:0033479	Abnormal circulating bilirubin concentration	5009	OTC	ORPHA:664
HP:0033479	Abnormal circulating bilirubin concentration	197131	UBR1	OMIM:243800
HP:0033479	Abnormal circulating bilirubin concentration	3594	IL12RB1	ORPHA:186
HP:0033479	Abnormal circulating bilirubin concentration	23534	TNPO3	ORPHA:186
HP:0033479	Abnormal circulating bilirubin concentration	3592	IL12A	ORPHA:186
HP:0033479	Abnormal circulating bilirubin concentration	6689	SPIB	ORPHA:186
HP:0033479	Abnormal circulating bilirubin concentration	5450	POU2AF1	ORPHA:186
HP:0033479	Abnormal circulating bilirubin concentration	9966	TNFSF15	ORPHA:186
HP:0033479	Abnormal circulating bilirubin concentration	79258	MMEL1	ORPHA:186
HP:0033479	Abnormal circulating bilirubin concentration	3663	IRF5	ORPHA:186
HP:0033479	Abnormal circulating bilirubin concentration	200931	SLC51A	OMIM:619484
HP:0033479	Abnormal circulating bilirubin concentration	113220	KIF12	OMIM:619662
HP:0033479	Abnormal circulating bilirubin concentration	63894	VIPAS39	OMIM:613404
HP:0033479	Abnormal circulating bilirubin concentration	4645	MYO5B	OMIM:619868
HP:0033479	Abnormal circulating bilirubin concentration	4067	LYN	OMIM:620376
HP:0033479	Abnormal circulating bilirubin concentration	3479	IGF1	ORPHA:73272
HP:0033479	Abnormal circulating bilirubin concentration	7355	SLC35A2	OMIM:300896
HP:0033479	Abnormal circulating bilirubin concentration	2876	GPX1	OMIM:614164
HP:0033479	Abnormal circulating bilirubin concentration	405753	DUOXA2	ORPHA:95716
HP:0033479	Abnormal circulating bilirubin concentration	6528	SLC5A5	ORPHA:95716
HP:0033479	Abnormal circulating bilirubin concentration	7038	TG	ORPHA:95716
HP:0033479	Abnormal circulating bilirubin concentration	7173	TPO	ORPHA:95716
HP:0033479	Abnormal circulating bilirubin concentration	389434	IYD	ORPHA:95716
HP:0033479	Abnormal circulating bilirubin concentration	50506	DUOX2	ORPHA:95716
HP:0033479	Abnormal circulating bilirubin concentration	10908	PNPLA6	ORPHA:3363
HP:0033479	Abnormal circulating bilirubin concentration	5048	PAFAH1B1	ORPHA:95232
HP:0033479	Abnormal circulating bilirubin concentration	9780	PIEZO1	ORPHA:3202
HP:0033479	Abnormal circulating bilirubin concentration	2203	FBP1	ORPHA:348
HP:0033479	Abnormal circulating bilirubin concentration	1371	CPOX	OMIM:618892
HP:0033479	Abnormal circulating bilirubin concentration	7319	UBE2A	ORPHA:163956
HP:0033479	Abnormal circulating bilirubin concentration	54658	UGT1A1	ORPHA:79234
HP:0033479	Abnormal circulating bilirubin concentration	54658	UGT1A1	ORPHA:79235
HP:0033479	Abnormal circulating bilirubin concentration	7253	TSHR	ORPHA:90673
HP:0033479	Abnormal circulating bilirubin concentration	7252	TSHB	ORPHA:90674
HP:0033479	Abnormal circulating bilirubin concentration	5551	PRF1	OMIM:603553
HP:0033479	Abnormal circulating bilirubin concentration	1376	CPT2	OMIM:608836
HP:0033479	Abnormal circulating bilirubin concentration	51601	LIPT1	OMIM:616299
HP:0033479	Abnormal circulating bilirubin concentration	5213	PFKM	OMIM:232800
HP:0033479	Abnormal circulating bilirubin concentration	11231	SEC63	ORPHA:2924
HP:0033479	Abnormal circulating bilirubin concentration	5589	PRKCSH	ORPHA:2924
HP:0033479	Abnormal circulating bilirubin concentration	5589	PRKCSH	OMIM:174050
HP:0033479	Abnormal circulating bilirubin concentration	4041	LRP5	ORPHA:2924
HP:0033479	Abnormal circulating bilirubin concentration	51473	DCDC2	ORPHA:84081
HP:0033479	Abnormal circulating bilirubin concentration	91147	TMEM67	ORPHA:84081
HP:0033479	Abnormal circulating bilirubin concentration	5313	PKLR	OMIM:266200
HP:0033479	Abnormal circulating bilirubin concentration	5313	PKLR	ORPHA:766
HP:0033479	Abnormal circulating bilirubin concentration	3043	HBB	ORPHA:232
HP:0033479	Abnormal circulating bilirubin concentration	55532	SLC30A10	OMIM:613280
HP:0033479	Abnormal circulating bilirubin concentration	6554	SLC10A1	OMIM:619256
HP:0033479	Abnormal circulating bilirubin concentration	374354	NHLRC2	OMIM:618278
HP:0033479	Abnormal circulating bilirubin concentration	8573	CASK	OMIM:300908
HP:0033479	Abnormal circulating bilirubin concentration	2539	G6PD	OMIM:300908
HP:0033479	Abnormal circulating bilirubin concentration	7080	NKX2-1	ORPHA:95713
HP:0033479	Abnormal circulating bilirubin concentration	1482	NKX2-5	ORPHA:95713
HP:0033479	Abnormal circulating bilirubin concentration	2304	FOXE1	ORPHA:95713
HP:0033479	Abnormal circulating bilirubin concentration	5172	SLC26A4	ORPHA:95713
HP:0033479	Abnormal circulating bilirubin concentration	10056	FARSB	OMIM:613658
HP:0033479	Abnormal circulating bilirubin concentration	7390	UROS	ORPHA:79277
HP:0033479	Abnormal circulating bilirubin concentration	8085	KMT2D	OMIM:620186
HP:0033479	Abnormal circulating bilirubin concentration	5277	PIGA	ORPHA:447
HP:0033479	Abnormal circulating bilirubin concentration	8482	SEMA7A	OMIM:619874
HP:0030202	Favorable response of weakness to acetylcholine esterase inhibitors	29925	GMPPB	ORPHA:353327
HP:0030202	Favorable response of weakness to acetylcholine esterase inhibitors	2673	GFPT1	ORPHA:353327
HP:0030202	Favorable response of weakness to acetylcholine esterase inhibitors	1798	DPAGT1	ORPHA:353327
HP:0030202	Favorable response of weakness to acetylcholine esterase inhibitors	85365	ALG2	ORPHA:353327
HP:0030202	Favorable response of weakness to acetylcholine esterase inhibitors	199857	ALG14	ORPHA:353327
HP:0007350	Upper limb hyperreflexia	11160	ERLIN2	ORPHA:209951
HP:0007350	Upper limb hyperreflexia	11160	ERLIN2	ORPHA:280384
HP:0007350	Upper limb hyperreflexia	6253	RTN2	ORPHA:100993
HP:0007350	Upper limb hyperreflexia	51271	UBAP1	ORPHA:100993
HP:0007350	Upper limb hyperreflexia	3329	HSPD1	ORPHA:100994
HP:0007350	Upper limb hyperreflexia	5832	ALDH18A1	ORPHA:447760
HP:0007350	Upper limb hyperreflexia	5832	ALDH18A1	ORPHA:447757
HP:0007350	Upper limb hyperreflexia	5832	ALDH18A1	ORPHA:447753
HP:0007350	Upper limb hyperreflexia	65055	REEP1	ORPHA:101011
HP:0007350	Upper limb hyperreflexia	137492	VPS37A	ORPHA:319199
HP:0007350	Upper limb hyperreflexia	2512	FTL	ORPHA:157846
HP:0007350	Upper limb hyperreflexia	3798	KIF5A	ORPHA:100991
HP:0007350	Upper limb hyperreflexia	3839	KPNA3	ORPHA:171612
HP:0007350	Upper limb hyperreflexia	823	CAPN1	ORPHA:488594
HP:0007350	Upper limb hyperreflexia	6683	SPAST	ORPHA:100985
HP:0007350	Upper limb hyperreflexia	23400	ATP13A2	ORPHA:306674
HP:0007350	Upper limb hyperreflexia	80208	SPG11	ORPHA:2822
HP:0007350	Upper limb hyperreflexia	6389	SDHA	ORPHA:3208
HP:0007350	Upper limb hyperreflexia	6390	SDHB	ORPHA:3208
HP:0007350	Upper limb hyperreflexia	6392	SDHD	ORPHA:3208
HP:0007350	Upper limb hyperreflexia	644096	SDHAF1	ORPHA:3208
HP:0007350	Upper limb hyperreflexia	51117	COQ4	OMIM:620666
HP:0007350	Upper limb hyperreflexia	10060	ABCC9	OMIM:619719
HP:0007352	Cerebellar calcifications	1161	ERCC8	ORPHA:90324
HP:0007352	Cerebellar calcifications	727676	SNORD118	ORPHA:542310
HP:0007352	Cerebellar calcifications	6575	SLC20A2	OMIM:213600
HP:0007352	Cerebellar calcifications	5159	PDGFRB	OMIM:213600
HP:0007352	Cerebellar calcifications	57462	MYORG	OMIM:618317
HP:0007352	Cerebellar calcifications	58494	JAM2	OMIM:618824
HP:0007352	Cerebellar calcifications	2074	ERCC6	OMIM:133540
HP:0007352	Cerebellar calcifications	129607	CMPK2	OMIM:621018
HP:0007352	Cerebellar calcifications	79903	NAA60	OMIM:620786
HP:0007352	Cerebellar calcifications	5932	RBBP8	OMIM:606744
HP:0007352	Cerebellar calcifications	11277	TREX1	OMIM:225750
HP:0007352	Cerebellar calcifications	5155	PDGFB	OMIM:615483
HP:0007354	Amyotrophic lateral sclerosis	23064	SETX	OMIM:602433
HP:0007354	Amyotrophic lateral sclerosis	5663	PSEN1	OMIM:600274
HP:0007354	Amyotrophic lateral sclerosis	4137	MAPT	OMIM:600274
HP:0007354	Amyotrophic lateral sclerosis	29978	UBQLN2	OMIM:300857
HP:0007354	Amyotrophic lateral sclerosis	29978	UBQLN2	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	1540	CYLD	OMIM:619132
HP:0007354	Amyotrophic lateral sclerosis	7072	TIA1	OMIM:619133
HP:0007354	Amyotrophic lateral sclerosis	4750	NEK1	OMIM:617892
HP:0007354	Amyotrophic lateral sclerosis	4750	NEK1	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	57679	ALS2	OMIM:205100
HP:0007354	Amyotrophic lateral sclerosis	57679	ALS2	ORPHA:300605
HP:0007354	Amyotrophic lateral sclerosis	2521	FUS	OMIM:608030
HP:0007354	Amyotrophic lateral sclerosis	2521	FUS	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	2521	FUS	ORPHA:300605
HP:0007354	Amyotrophic lateral sclerosis	9782	MATR3	OMIM:606070
HP:0007354	Amyotrophic lateral sclerosis	9782	MATR3	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	9782	MATR3	ORPHA:600
HP:0007354	Amyotrophic lateral sclerosis	23435	TARDBP	OMIM:612069
HP:0007354	Amyotrophic lateral sclerosis	23435	TARDBP	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	2066	ERBB4	OMIM:615515
HP:0007354	Amyotrophic lateral sclerosis	2066	ERBB4	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	10133	OPTN	OMIM:613435
HP:0007354	Amyotrophic lateral sclerosis	10133	OPTN	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	400916	CHCHD10	OMIM:615911
HP:0007354	Amyotrophic lateral sclerosis	400916	CHCHD10	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	283	ANG	OMIM:611895
HP:0007354	Amyotrophic lateral sclerosis	283	ANG	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	7277	TUBA4A	OMIM:616208
HP:0007354	Amyotrophic lateral sclerosis	7415	VCP	OMIM:613954
HP:0007354	Amyotrophic lateral sclerosis	7415	VCP	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	7415	VCP	ORPHA:52430
HP:0007354	Amyotrophic lateral sclerosis	311	ANXA11	OMIM:617839
HP:0007354	Amyotrophic lateral sclerosis	311	ANXA11	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	25978	CHMP2B	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	3178	HNRNPA1	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	3178	HNRNPA1	OMIM:615426
HP:0007354	Amyotrophic lateral sclerosis	3178	HNRNPA1	ORPHA:52430
HP:0007354	Amyotrophic lateral sclerosis	8148	TAF15	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	5445	PON2	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	9217	VAPB	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	9217	VAPB	OMIM:608627
HP:0007354	Amyotrophic lateral sclerosis	8878	SQSTM1	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	8878	SQSTM1	OMIM:616437
HP:0007354	Amyotrophic lateral sclerosis	5630	PRPH	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	5630	PRPH	OMIM:105400
HP:0007354	Amyotrophic lateral sclerosis	29110	TBK1	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	29110	TBK1	OMIM:616439
HP:0007354	Amyotrophic lateral sclerosis	55830	GLT8D1	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	755	CFAP410	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	10891	PPARGC1A	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	6647	SOD1	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	6647	SOD1	OMIM:105400
HP:0007354	Amyotrophic lateral sclerosis	1639	DCTN1	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	1639	DCTN1	OMIM:105400
HP:0007354	Amyotrophic lateral sclerosis	9896	FIG4	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	9896	FIG4	OMIM:612577
HP:0007354	Amyotrophic lateral sclerosis	5444	PON1	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	5446	PON3	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	4744	NEFH	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	4744	NEFH	OMIM:105400
HP:0007354	Amyotrophic lateral sclerosis	5216	PFN1	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	5216	PFN1	OMIM:614808
HP:0007354	Amyotrophic lateral sclerosis	54209	TREM2	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	2733	GLE1	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	6311	ATXN2	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	1610	DAO	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	23025	UNC13A	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	899	CCNF	ORPHA:803
HP:0007354	Amyotrophic lateral sclerosis	899	CCNF	OMIM:619141
HP:0007354	Amyotrophic lateral sclerosis	80208	SPG11	OMIM:602099
HP:0007354	Amyotrophic lateral sclerosis	80208	SPG11	ORPHA:300605
HP:0007354	Amyotrophic lateral sclerosis	203228	C9orf72	OMIM:105550
HP:0007354	Amyotrophic lateral sclerosis	10280	SIGMAR1	ORPHA:300605
HP:0007354	Amyotrophic lateral sclerosis	10280	SIGMAR1	OMIM:614373
HP:0007354	Amyotrophic lateral sclerosis	10558	SPTLC1	ORPHA:300605
HP:0007354	Amyotrophic lateral sclerosis	3798	KIF5A	OMIM:617921
HP:0007354	Amyotrophic lateral sclerosis	54822	TRPM7	OMIM:105500
HP:0007354	Amyotrophic lateral sclerosis	3181	HNRNPA2B1	ORPHA:52430
HP:0012653	Status asthmaticus	54914	FOCAD	OMIM:619991
HP:0012657	Abnormal brain positron emission tomography	25978	CHMP2B	ORPHA:275864
HP:0012657	Abnormal brain positron emission tomography	25978	CHMP2B	ORPHA:100070
HP:0012657	Abnormal brain positron emission tomography	5663	PSEN1	ORPHA:275864
HP:0012657	Abnormal brain positron emission tomography	5663	PSEN1	ORPHA:100070
HP:0012657	Abnormal brain positron emission tomography	2896	GRN	ORPHA:275864
HP:0012657	Abnormal brain positron emission tomography	2896	GRN	ORPHA:100070
HP:0012657	Abnormal brain positron emission tomography	54664	TMEM106B	ORPHA:275864
HP:0012657	Abnormal brain positron emission tomography	54664	TMEM106B	ORPHA:100070
HP:0012657	Abnormal brain positron emission tomography	8878	SQSTM1	ORPHA:275864
HP:0012657	Abnormal brain positron emission tomography	4137	MAPT	ORPHA:275864
HP:0012657	Abnormal brain positron emission tomography	4137	MAPT	ORPHA:100070
HP:0012657	Abnormal brain positron emission tomography	54209	TREM2	ORPHA:275864
HP:0012657	Abnormal brain positron emission tomography	54209	TREM2	ORPHA:100070
HP:0012657	Abnormal brain positron emission tomography	7415	VCP	ORPHA:275864
HP:0012657	Abnormal brain positron emission tomography	7415	VCP	ORPHA:100070
HP:0012657	Abnormal brain positron emission tomography	8314	BAP1	ORPHA:2495
HP:0012657	Abnormal brain positron emission tomography	4771	NF2	ORPHA:2495
HP:0012657	Abnormal brain positron emission tomography	6598	SMARCB1	ORPHA:2495
HP:0012657	Abnormal brain positron emission tomography	5155	PDGFB	ORPHA:2495
HP:0012657	Abnormal brain positron emission tomography	84231	TRAF7	ORPHA:2495
HP:0012657	Abnormal brain positron emission tomography	6608	SMO	ORPHA:2495
HP:0012657	Abnormal brain positron emission tomography	207	AKT1	ORPHA:2495
HP:0012657	Abnormal brain positron emission tomography	5290	PIK3CA	ORPHA:2495
HP:0012657	Abnormal brain positron emission tomography	7015	TERT	ORPHA:2495
HP:0012657	Abnormal brain positron emission tomography	51684	SUFU	ORPHA:2495
HP:0012657	Abnormal brain positron emission tomography	6605	SMARCE1	ORPHA:2495
HP:0012657	Abnormal brain positron emission tomography	27235	COQ2	ORPHA:227510
HP:0012657	Abnormal brain positron emission tomography	27235	COQ2	ORPHA:98933
HP:0012657	Abnormal brain positron emission tomography	9881	TRANK1	ORPHA:33543
HP:0012657	Abnormal brain positron emission tomography	5621	PRNP	ORPHA:466
HP:0012657	Abnormal brain positron emission tomography	5664	PSEN2	OMIM:606889
HP:0012657	Abnormal brain positron emission tomography	348	APOE	OMIM:606889
HP:0012658	Abnormal brain FDG positron emission tomography	25978	CHMP2B	ORPHA:275864
HP:0012658	Abnormal brain FDG positron emission tomography	25978	CHMP2B	ORPHA:100070
HP:0012658	Abnormal brain FDG positron emission tomography	5663	PSEN1	ORPHA:275864
HP:0012658	Abnormal brain FDG positron emission tomography	5663	PSEN1	ORPHA:100070
HP:0012658	Abnormal brain FDG positron emission tomography	2896	GRN	ORPHA:275864
HP:0012658	Abnormal brain FDG positron emission tomography	2896	GRN	ORPHA:100070
HP:0012658	Abnormal brain FDG positron emission tomography	54664	TMEM106B	ORPHA:275864
HP:0012658	Abnormal brain FDG positron emission tomography	54664	TMEM106B	ORPHA:100070
HP:0012658	Abnormal brain FDG positron emission tomography	8878	SQSTM1	ORPHA:275864
HP:0012658	Abnormal brain FDG positron emission tomography	4137	MAPT	ORPHA:275864
HP:0012658	Abnormal brain FDG positron emission tomography	4137	MAPT	ORPHA:100070
HP:0012658	Abnormal brain FDG positron emission tomography	54209	TREM2	ORPHA:275864
HP:0012658	Abnormal brain FDG positron emission tomography	54209	TREM2	ORPHA:100070
HP:0012658	Abnormal brain FDG positron emission tomography	7415	VCP	ORPHA:275864
HP:0012658	Abnormal brain FDG positron emission tomography	7415	VCP	ORPHA:100070
HP:0012658	Abnormal brain FDG positron emission tomography	8314	BAP1	ORPHA:2495
HP:0012658	Abnormal brain FDG positron emission tomography	4771	NF2	ORPHA:2495
HP:0012658	Abnormal brain FDG positron emission tomography	6598	SMARCB1	ORPHA:2495
HP:0012658	Abnormal brain FDG positron emission tomography	5155	PDGFB	ORPHA:2495
HP:0012658	Abnormal brain FDG positron emission tomography	84231	TRAF7	ORPHA:2495
HP:0012658	Abnormal brain FDG positron emission tomography	6608	SMO	ORPHA:2495
HP:0012658	Abnormal brain FDG positron emission tomography	207	AKT1	ORPHA:2495
HP:0012658	Abnormal brain FDG positron emission tomography	5290	PIK3CA	ORPHA:2495
HP:0012658	Abnormal brain FDG positron emission tomography	7015	TERT	ORPHA:2495
HP:0012658	Abnormal brain FDG positron emission tomography	51684	SUFU	ORPHA:2495
HP:0012658	Abnormal brain FDG positron emission tomography	6605	SMARCE1	ORPHA:2495
HP:0012658	Abnormal brain FDG positron emission tomography	27235	COQ2	ORPHA:227510
HP:0012658	Abnormal brain FDG positron emission tomography	27235	COQ2	ORPHA:98933
HP:0012658	Abnormal brain FDG positron emission tomography	9881	TRANK1	ORPHA:33543
HP:0012658	Abnormal brain FDG positron emission tomography	5621	PRNP	ORPHA:466
HP:0012658	Abnormal brain FDG positron emission tomography	5664	PSEN2	OMIM:606889
HP:0012658	Abnormal brain FDG positron emission tomography	348	APOE	OMIM:606889
HP:0007359	Focal-onset seizure	50801	KCNK4	OMIM:618381
HP:0007359	Focal-onset seizure	8504	PEX3	OMIM:617370
HP:0007359	Focal-onset seizure	132158	GLYCTK	OMIM:220120
HP:0007359	Focal-onset seizure	6487	ST3GAL3	OMIM:615006
HP:0007359	Focal-onset seizure	51294	PCDH12	OMIM:251280
HP:0007359	Focal-onset seizure	55325	UFSP2	OMIM:620028
HP:0007359	Focal-onset seizure	11198	SUPT16H	OMIM:619480
HP:0007359	Focal-onset seizure	57165	GJC2	OMIM:608804
HP:0007359	Focal-onset seizure	64780	MICAL1	OMIM:600512
HP:0007359	Focal-onset seizure	57094	CPA6	OMIM:614417
HP:0007359	Focal-onset seizure	7187	TRAF3	ORPHA:1930
HP:0007359	Focal-onset seizure	81622	UNC93B1	ORPHA:1930
HP:0007359	Focal-onset seizure	148022	TICAM1	ORPHA:1930
HP:0007359	Focal-onset seizure	7098	TLR3	ORPHA:1930
HP:0007359	Focal-onset seizure	29110	TBK1	ORPHA:1930
HP:0007359	Focal-onset seizure	26235	FBXL4	OMIM:615471
HP:0007359	Focal-onset seizure	1183	CLCN4	OMIM:300114
HP:0007359	Focal-onset seizure	1183	CLCN4	ORPHA:485350
HP:0007359	Focal-onset seizure	23019	CNOT1	OMIM:618500
HP:0007359	Focal-onset seizure	55823	VPS11	OMIM:616683
HP:0007359	Focal-onset seizure	23135	KDM6B	OMIM:618505
HP:0007359	Focal-onset seizure	1317	SLC31A1	OMIM:620306
HP:0007359	Focal-onset seizure	2904	GRIN2B	OMIM:613970
HP:0007359	Focal-onset seizure	92335	STRADA	ORPHA:500533
HP:0007359	Focal-onset seizure	5277	PIGA	ORPHA:293181
HP:0007359	Focal-onset seizure	23126	POGZ	ORPHA:468678
HP:0007359	Focal-onset seizure	23126	POGZ	OMIM:616364
HP:0007359	Focal-onset seizure	64324	NSD1	ORPHA:821
HP:0007359	Focal-onset seizure	10297	APC2	ORPHA:821
HP:0007359	Focal-onset seizure	2593	GAMT	ORPHA:382
HP:0007359	Focal-onset seizure	387119	CEP85L	OMIM:618873
HP:0007359	Focal-onset seizure	3745	KCNB1	OMIM:616056
HP:0007359	Focal-onset seizure	473	RERE	OMIM:616975
HP:0007359	Focal-onset seizure	4041	LRP5	OMIM:259770
HP:0007359	Focal-onset seizure	846	CASR	OMIM:612899
HP:0007359	Focal-onset seizure	51083	GAL	OMIM:616461
HP:0007359	Focal-onset seizure	535	ATP6V0A1	OMIM:619970
HP:0007359	Focal-onset seizure	816	CAMK2B	OMIM:617799
HP:0007359	Focal-onset seizure	23229	ARHGEF9	ORPHA:163985
HP:0007359	Focal-onset seizure	23229	ARHGEF9	OMIM:300607
HP:0007359	Focal-onset seizure	116150	NUS1	OMIM:617831
HP:0007359	Focal-onset seizure	3064	HTT	OMIM:617435
HP:0007359	Focal-onset seizure	267010	RNU12	OMIM:620208
HP:0007359	Focal-onset seizure	2770	GNAI1	OMIM:619854
HP:0007359	Focal-onset seizure	2055	CLN8	OMIM:610003
HP:0007359	Focal-onset seizure	2055	CLN8	ORPHA:1947
HP:0007359	Focal-onset seizure	1000	CDH2	OMIM:618929
HP:0007359	Focal-onset seizure	128989	TANGO2	ORPHA:480864
HP:0007359	Focal-onset seizure	26523	AGO1	OMIM:620292
HP:0007359	Focal-onset seizure	2898	GRIK2	OMIM:619580
HP:0007359	Focal-onset seizure	56776	FMN2	OMIM:616193
HP:0007359	Focal-onset seizure	283987	HID1	OMIM:619983
HP:0007359	Focal-onset seizure	776	CACNA1D	ORPHA:369929
HP:0007359	Focal-onset seizure	56479	KCNQ5	OMIM:617601
HP:0007359	Focal-onset seizure	23152	CIC	OMIM:617600
HP:0007359	Focal-onset seizure	2783	GNB2	OMIM:619503
HP:0007359	Focal-onset seizure	9419	CRIPT	OMIM:615789
HP:0007359	Focal-onset seizure	2261	FGFR3	OMIM:616482
HP:0007359	Focal-onset seizure	3747	KCNC2	OMIM:619913
HP:0007359	Focal-onset seizure	23040	MYT1L	OMIM:616521
HP:0007359	Focal-onset seizure	4983	OPHN1	ORPHA:137831
HP:0007359	Focal-onset seizure	85440	DOCK7	ORPHA:411986
HP:0007359	Focal-onset seizure	85440	DOCK7	OMIM:615859
HP:0007359	Focal-onset seizure	526	ATP6V1B2	ORPHA:79500
HP:0007359	Focal-onset seizure	25814	ATXN10	ORPHA:98761
HP:0007359	Focal-onset seizure	57169	ZNFX1	OMIM:619644
HP:0007359	Focal-onset seizure	9896	FIG4	OMIM:612691
HP:0007359	Focal-onset seizure	9896	FIG4	ORPHA:208441
HP:0007359	Focal-onset seizure	163175	LGI4	OMIM:617468
HP:0007359	Focal-onset seizure	3708	ITPR1	OMIM:117360
HP:0007359	Focal-onset seizure	23031	MAST3	OMIM:620115
HP:0007359	Focal-onset seizure	9568	GABBR2	OMIM:617904
HP:0007359	Focal-onset seizure	2556	GABRA3	OMIM:301091
HP:0007359	Focal-onset seizure	57020	VPS35L	OMIM:619135
HP:0007359	Focal-onset seizure	23499	MACF1	OMIM:618325
HP:0007359	Focal-onset seizure	5048	PAFAH1B1	ORPHA:95232
HP:0007359	Focal-onset seizure	5498	PPOX	OMIM:620483
HP:0007359	Focal-onset seizure	197322	ACSF3	ORPHA:289504
HP:0007359	Focal-onset seizure	6812	STXBP1	ORPHA:599373
HP:0007359	Focal-onset seizure	7040	TGFB1	OMIM:618213
HP:0007359	Focal-onset seizure	51117	COQ4	OMIM:616276
HP:0007359	Focal-onset seizure	10695	CNPY3	OMIM:617929
HP:0007359	Focal-onset seizure	50640	PNPLA8	OMIM:251950
HP:0007359	Focal-onset seizure	8085	KMT2D	OMIM:147920
HP:0007359	Focal-onset seizure	7403	KDM6A	OMIM:147920
HP:0007359	Focal-onset seizure	50485	SMARCAL1	ORPHA:1830
HP:0007359	Focal-onset seizure	51343	FZR1	OMIM:620145
HP:0007359	Focal-onset seizure	6584	SLC22A5	ORPHA:158
HP:0007359	Focal-onset seizure	53616	ADAM22	OMIM:617933
HP:0007359	Focal-onset seizure	123263	MTFMT	OMIM:614947
HP:0007359	Focal-onset seizure	51124	IER3IP1	OMIM:614231
HP:0007359	Focal-onset seizure	51741	WWOX	OMIM:616211
HP:0007359	Focal-onset seizure	10991	SLC38A3	OMIM:619881
HP:0007359	Focal-onset seizure	154881	KCTD7	OMIM:611726
HP:0007359	Focal-onset seizure	93627	TBCK	OMIM:616900
HP:0007359	Focal-onset seizure	83480	PUS3	ORPHA:488627
HP:0007359	Focal-onset seizure	3778	KCNMA1	OMIM:617643
HP:0007359	Focal-onset seizure	57107	PDSS2	OMIM:614652
HP:0007359	Focal-onset seizure	3767	KCNJ11	OMIM:618856
HP:0007359	Focal-onset seizure	5660	PSAP	OMIM:610539
HP:0007359	Focal-onset seizure	5138	PDE2A	OMIM:619150
HP:0007359	Focal-onset seizure	5138	PDE2A	ORPHA:31709
HP:0007359	Focal-onset seizure	57526	PCDH19	ORPHA:101039
HP:0007359	Focal-onset seizure	57526	PCDH19	OMIM:300088
HP:0007359	Focal-onset seizure	57526	PCDH19	ORPHA:33069
HP:0007359	Focal-onset seizure	4558	MT-TF	ORPHA:550
HP:0007359	Focal-onset seizure	4572	MT-TQ	ORPHA:550
HP:0007359	Focal-onset seizure	4512	MT-CO1	ORPHA:550
HP:0007359	Focal-onset seizure	4513	MT-CO2	ORPHA:550
HP:0007359	Focal-onset seizure	4514	MT-CO3	ORPHA:550
HP:0007359	Focal-onset seizure	4578	MT-TW	ORPHA:550
HP:0007359	Focal-onset seizure	4540	MT-ND5	ORPHA:550
HP:0007359	Focal-onset seizure	4541	MT-ND6	ORPHA:550
HP:0007359	Focal-onset seizure	4535	MT-ND1	ORPHA:550
HP:0007359	Focal-onset seizure	4538	MT-ND4	ORPHA:550
HP:0007359	Focal-onset seizure	4567	MT-TL1	ORPHA:550
HP:0007359	Focal-onset seizure	4574	MT-TS1	ORPHA:550
HP:0007359	Focal-onset seizure	4575	MT-TS2	ORPHA:550
HP:0007359	Focal-onset seizure	4564	MT-TH	ORPHA:550
HP:0007359	Focal-onset seizure	10059	DNM1L	ORPHA:330050
HP:0007359	Focal-onset seizure	8243	SMC1A	OMIM:301044
HP:0007359	Focal-onset seizure	4524	MTHFR	ORPHA:395
HP:0007359	Focal-onset seizure	26960	NBEA	OMIM:619157
HP:0007359	Focal-onset seizure	8367	H4C5	OMIM:619950
HP:0007359	Focal-onset seizure	56896	DPYSL5	OMIM:619435
HP:0007359	Focal-onset seizure	348980	HCN1	OMIM:615871
HP:0007359	Focal-onset seizure	348980	HCN1	ORPHA:36387
HP:0007359	Focal-onset seizure	23241	PACS2	OMIM:618067
HP:0007359	Focal-onset seizure	23334	SZT2	OMIM:615476
HP:0007359	Focal-onset seizure	2290	FOXG1	OMIM:613454
HP:0007359	Focal-onset seizure	775	CACNA1C	OMIM:620029
HP:0007359	Focal-onset seizure	6328	SCN3A	OMIM:617935
HP:0007359	Focal-onset seizure	2653	GCSH	OMIM:620423
HP:0007359	Focal-onset seizure	6323	SCN1A	OMIM:619317
HP:0007359	Focal-onset seizure	6323	SCN1A	ORPHA:2382
HP:0007359	Focal-onset seizure	6323	SCN1A	ORPHA:36387
HP:0007359	Focal-onset seizure	6323	SCN1A	ORPHA:33069
HP:0007359	Focal-onset seizure	6323	SCN1A	OMIM:604403
HP:0007359	Focal-onset seizure	6323	SCN1A	ORPHA:1942
HP:0007359	Focal-onset seizure	55733	HHAT	OMIM:600092
HP:0007359	Focal-onset seizure	6334	SCN8A	ORPHA:306
HP:0007359	Focal-onset seizure	6334	SCN8A	ORPHA:31709
HP:0007359	Focal-onset seizure	6326	SCN2A	ORPHA:306
HP:0007359	Focal-onset seizure	6326	SCN2A	ORPHA:36387
HP:0007359	Focal-onset seizure	6326	SCN2A	ORPHA:33069
HP:0007359	Focal-onset seizure	6326	SCN2A	ORPHA:1934
HP:0007359	Focal-onset seizure	112476	PRRT2	ORPHA:306
HP:0007359	Focal-onset seizure	112476	PRRT2	ORPHA:36387
HP:0007359	Focal-onset seizure	112476	PRRT2	ORPHA:31709
HP:0007359	Focal-onset seizure	112476	PRRT2	OMIM:602066
HP:0007359	Focal-onset seizure	3785	KCNQ2	ORPHA:306
HP:0007359	Focal-onset seizure	3785	KCNQ2	ORPHA:1949
HP:0007359	Focal-onset seizure	3786	KCNQ3	ORPHA:306
HP:0007359	Focal-onset seizure	3786	KCNQ3	ORPHA:1949
HP:0007359	Focal-onset seizure	84320	ACBD6	OMIM:620785
HP:0007359	Focal-onset seizure	23600	AMACR	OMIM:614307
HP:0007359	Focal-onset seizure	6709	SPTAN1	OMIM:620540
HP:0007359	Focal-onset seizure	4076	CAPRIN1	OMIM:620782
HP:0007359	Focal-onset seizure	22845	DOLK	ORPHA:91131
HP:0007359	Focal-onset seizure	8496	PPFIBP1	OMIM:620024
HP:0007359	Focal-onset seizure	51816	ADA2	ORPHA:820
HP:0007359	Focal-onset seizure	170302	ARX	OMIM:308350
HP:0007359	Focal-onset seizure	170302	ARX	ORPHA:1934
HP:0007359	Focal-onset seizure	57176	VARS2	OMIM:615917
HP:0007359	Focal-onset seizure	57465	TBC1D24	OMIM:605021
HP:0007359	Focal-onset seizure	57465	TBC1D24	ORPHA:352582
HP:0007359	Focal-onset seizure	2258	FGF13	OMIM:301058
HP:0007359	Focal-onset seizure	2258	FGF13	ORPHA:36387
HP:0007359	Focal-onset seizure	2563	GABRD	OMIM:613060
HP:0007359	Focal-onset seizure	2563	GABRD	ORPHA:36387
HP:0007359	Focal-onset seizure	5515	PPP2CA	OMIM:618354
HP:0007359	Focal-onset seizure	1436	CSF1R	OMIM:618476
HP:0007359	Focal-onset seizure	27286	SRPX2	OMIM:300643
HP:0007359	Focal-onset seizure	27286	SRPX2	ORPHA:163721
HP:0007359	Focal-onset seizure	27286	SRPX2	ORPHA:98889
HP:0007359	Focal-onset seizure	27286	SRPX2	ORPHA:1945
HP:0007359	Focal-onset seizure	8722	CTSF	OMIM:615362
HP:0007359	Focal-onset seizure	5917	RARS1	ORPHA:438114
HP:0007359	Focal-onset seizure	57582	KCNT1	OMIM:615005
HP:0007359	Focal-onset seizure	477	ATP1A2	OMIM:619605
HP:0007359	Focal-onset seizure	478	ATP1A3	OMIM:619606
HP:0007359	Focal-onset seizure	2782	GNB1	OMIM:616973
HP:0007359	Focal-onset seizure	54982	CLN6	OMIM:204300
HP:0007359	Focal-onset seizure	50	ACO2	OMIM:614559
HP:0007359	Focal-onset seizure	2891	GRIA2	OMIM:618917
HP:0007359	Focal-onset seizure	3908	LAMA2	ORPHA:258
HP:0007359	Focal-onset seizure	1353	COX11	OMIM:620275
HP:0007359	Focal-onset seizure	4131	MAP1B	OMIM:618918
HP:0007359	Focal-onset seizure	4131	MAP1B	ORPHA:98892
HP:0007359	Focal-onset seizure	1137	CHRNA4	OMIM:600513
HP:0007359	Focal-onset seizure	112939	NACC1	OMIM:617393
HP:0007359	Focal-onset seizure	284058	KANSL1	ORPHA:363958
HP:0007359	Focal-onset seizure	284058	KANSL1	ORPHA:363965
HP:0007359	Focal-onset seizure	347733	TUBB2B	ORPHA:300573
HP:0007359	Focal-onset seizure	79641	ROGDI	OMIM:226750
HP:0007359	Focal-onset seizure	3899	AFF3	OMIM:619297
HP:0007359	Focal-onset seizure	54496	PRMT7	OMIM:617157
HP:0007359	Focal-onset seizure	6844	VAMP2	OMIM:618760
HP:0007359	Focal-onset seizure	79029	AFG2B	OMIM:619616
HP:0007359	Focal-onset seizure	1778	DYNC1H1	OMIM:614563
HP:0007359	Focal-onset seizure	10381	TUBB3	ORPHA:300570
HP:0007359	Focal-onset seizure	340665	CYP26C1	ORPHA:398189
HP:0007359	Focal-onset seizure	23732	FRRS1L	ORPHA:725
HP:0007359	Focal-onset seizure	2903	GRIN2A	ORPHA:725
HP:0007359	Focal-onset seizure	2903	GRIN2A	ORPHA:289266
HP:0007359	Focal-onset seizure	2903	GRIN2A	OMIM:245570
HP:0007359	Focal-onset seizure	2903	GRIN2A	ORPHA:163721
HP:0007359	Focal-onset seizure	2903	GRIN2A	ORPHA:1945
HP:0007359	Focal-onset seizure	9570	GOSR2	OMIM:620166
HP:0007359	Focal-onset seizure	5428	POLG	ORPHA:726
HP:0007359	Focal-onset seizure	501	ALDH7A1	ORPHA:3006
HP:0007359	Focal-onset seizure	11212	PLPBP	ORPHA:3006
HP:0007359	Focal-onset seizure	8131	NPRL3	ORPHA:98820
HP:0007359	Focal-onset seizure	10641	NPRL2	ORPHA:98820
HP:0007359	Focal-onset seizure	9681	DEPDC5	ORPHA:98820
HP:0007359	Focal-onset seizure	9681	DEPDC5	OMIM:620504
HP:0007359	Focal-onset seizure	9681	DEPDC5	ORPHA:101046
HP:0007359	Focal-onset seizure	6792	CDKL5	ORPHA:505652
HP:0007359	Focal-onset seizure	6792	CDKL5	ORPHA:1934
HP:0007359	Focal-onset seizure	9839	ZEB2	ORPHA:261552
HP:0007359	Focal-onset seizure	9839	ZEB2	ORPHA:261537
HP:0007359	Focal-onset seizure	22872	SEC31A	OMIM:618651
HP:0007359	Focal-onset seizure	1759	DNM1	ORPHA:2382
HP:0007359	Focal-onset seizure	2562	GABRB3	ORPHA:2382
HP:0007359	Focal-onset seizure	5602	MAPK10	ORPHA:2382
HP:0007359	Focal-onset seizure	773	CACNA1A	ORPHA:2382
HP:0007359	Focal-onset seizure	23316	CUX2	ORPHA:2382
HP:0007359	Focal-onset seizure	1106	CHD2	ORPHA:2382
HP:0007359	Focal-onset seizure	1106	CHD2	ORPHA:1942
HP:0007359	Focal-onset seizure	79152	FA2H	ORPHA:329308
HP:0007359	Focal-onset seizure	8789	FBP2	OMIM:619864
HP:0007359	Focal-onset seizure	5442	POLRMT	OMIM:619743
HP:0007359	Focal-onset seizure	5833	PCYT2	OMIM:618770
HP:0007359	Focal-onset seizure	523	ATP6V1A	OMIM:618012
HP:0007359	Focal-onset seizure	2257	FGF12	OMIM:617166
HP:0007359	Focal-onset seizure	1641	DCX	ORPHA:2148
HP:0007359	Focal-onset seizure	2475	MTOR	ORPHA:457485
HP:0007359	Focal-onset seizure	79813	EHMT1	OMIM:610253
HP:0007359	Focal-onset seizure	124512	METTL23	OMIM:615942
HP:0007359	Focal-onset seizure	6304	SATB1	OMIM:619229
HP:0007359	Focal-onset seizure	1974	EIF4A2	OMIM:620455
HP:0007359	Focal-onset seizure	4763	NF1	ORPHA:97685
HP:0007359	Focal-onset seizure	6335	SCN9A	ORPHA:36387
HP:0007359	Focal-onset seizure	6335	SCN9A	ORPHA:33069
HP:0007359	Focal-onset seizure	112755	STX1B	ORPHA:36387
HP:0007359	Focal-onset seizure	6324	SCN1B	ORPHA:36387
HP:0007359	Focal-onset seizure	6324	SCN1B	ORPHA:33069
HP:0007359	Focal-onset seizure	6324	SCN1B	ORPHA:1934
HP:0007359	Focal-onset seizure	84059	ADGRV1	ORPHA:36387
HP:0007359	Focal-onset seizure	2566	GABRG2	ORPHA:36387
HP:0007359	Focal-onset seizure	2566	GABRG2	ORPHA:33069
HP:0007359	Focal-onset seizure	2566	GABRG2	ORPHA:1945
HP:0007359	Focal-onset seizure	23265	EXOC7	OMIM:619072
HP:0007359	Focal-onset seizure	375	ARF1	ORPHA:98892
HP:0007359	Focal-onset seizure	2316	FLNA	ORPHA:98892
HP:0007359	Focal-onset seizure	23327	NEDD4L	ORPHA:98892
HP:0007359	Focal-onset seizure	160418	TMTC3	ORPHA:98892
HP:0007359	Focal-onset seizure	10564	ARFGEF2	ORPHA:98892
HP:0007359	Focal-onset seizure	55780	ERMARD	ORPHA:98892
HP:0007359	Focal-onset seizure	11154	AP4S1	OMIM:614067
HP:0007359	Focal-onset seizure	94005	PIGS	OMIM:618143
HP:0007359	Focal-onset seizure	6711	SPTBN1	OMIM:619475
HP:0007359	Focal-onset seizure	57468	SLC12A5	OMIM:616645
HP:0007359	Focal-onset seizure	1182	CLCN3	OMIM:619517
HP:0007359	Focal-onset seizure	8314	BAP1	ORPHA:2495
HP:0007359	Focal-onset seizure	4771	NF2	ORPHA:2495
HP:0007359	Focal-onset seizure	6598	SMARCB1	ORPHA:2495
HP:0007359	Focal-onset seizure	5155	PDGFB	ORPHA:2495
HP:0007359	Focal-onset seizure	84231	TRAF7	ORPHA:2495
HP:0007359	Focal-onset seizure	6608	SMO	ORPHA:2495
HP:0007359	Focal-onset seizure	207	AKT1	ORPHA:2495
HP:0007359	Focal-onset seizure	5290	PIK3CA	ORPHA:2495
HP:0007359	Focal-onset seizure	7015	TERT	ORPHA:2495
HP:0007359	Focal-onset seizure	51684	SUFU	ORPHA:2495
HP:0007359	Focal-onset seizure	6605	SMARCE1	ORPHA:2495
HP:0007359	Focal-onset seizure	4191	MDH2	OMIM:617339
HP:0007359	Focal-onset seizure	527	ATP6V0C	OMIM:620465
HP:0007359	Focal-onset seizure	1282	COL4A1	OMIM:175780
HP:0007359	Focal-onset seizure	9289	ADGRG1	ORPHA:98889
HP:0007359	Focal-onset seizure	5297	PI4KA	ORPHA:98889
HP:0007359	Focal-onset seizure	6134	RPL10	ORPHA:459070
HP:0007359	Focal-onset seizure	2554	GABRA1	ORPHA:33069
HP:0007359	Focal-onset seizure	378884	NHLRC1	ORPHA:501
HP:0007359	Focal-onset seizure	7957	EPM2A	ORPHA:501
HP:0007359	Focal-onset seizure	6050	RNH1	OMIM:620461
HP:0007359	Focal-onset seizure	26047	CNTNAP2	ORPHA:163681
HP:0007359	Focal-onset seizure	26047	CNTNAP2	OMIM:610042
HP:0007359	Focal-onset seizure	11128	POLR3A	ORPHA:447896
HP:0007359	Focal-onset seizure	151	ADRA2B	ORPHA:86814
HP:0007359	Focal-onset seizure	55689	YEATS2	ORPHA:86814
HP:0007359	Focal-onset seizure	1501	CTNND2	ORPHA:86814
HP:0007359	Focal-onset seizure	10299	MARCHF6	ORPHA:86814
HP:0007359	Focal-onset seizure	10299	MARCHF6	OMIM:613608
HP:0007359	Focal-onset seizure	6900	CNTN2	ORPHA:86814
HP:0007359	Focal-onset seizure	401474	SAMD12	ORPHA:86814
HP:0007359	Focal-onset seizure	79143	MBOAT7	OMIM:617188
HP:0007359	Focal-onset seizure	539	ATP5PO	OMIM:620359
HP:0007359	Focal-onset seizure	140679	SLC32A1	OMIM:620755
HP:0007359	Focal-onset seizure	140679	SLC32A1	ORPHA:1934
HP:0007359	Focal-onset seizure	9772	TMEM94	OMIM:618316
HP:0007359	Focal-onset seizure	7846	TUBA1A	ORPHA:171680
HP:0007359	Focal-onset seizure	6853	SYN1	OMIM:300491
HP:0007359	Focal-onset seizure	4677	NARS1	OMIM:619091
HP:0007359	Focal-onset seizure	4677	NARS1	OMIM:619092
HP:0007359	Focal-onset seizure	23154	NCDN	OMIM:619373
HP:0007359	Focal-onset seizure	284098	PIGW	OMIM:616025
HP:0007359	Focal-onset seizure	1284	COL4A2	OMIM:614483
HP:0007359	Focal-onset seizure	1315	COPB1	OMIM:619255
HP:0007359	Focal-onset seizure	23219	FBXO28	OMIM:619777
HP:0007359	Focal-onset seizure	3458	IFNG	ORPHA:805
HP:0007359	Focal-onset seizure	7248	TSC1	ORPHA:805
HP:0007359	Focal-onset seizure	7249	TSC2	ORPHA:805
HP:0007359	Focal-onset seizure	10815	CPLX1	ORPHA:352582
HP:0007359	Focal-onset seizure	10295	BCKDK	OMIM:614923
HP:0007359	Focal-onset seizure	6513	SLC2A1	ORPHA:1942
HP:0007359	Focal-onset seizure	8831	SYNGAP1	ORPHA:1942
HP:0007359	Focal-onset seizure	1173	AP2M1	ORPHA:1942
HP:0007359	Focal-onset seizure	340533	NEXMIF	ORPHA:1942
HP:0007359	Focal-onset seizure	6529	SLC6A1	ORPHA:1942
HP:0007359	Focal-onset seizure	2801	GOLGA2	OMIM:620240
HP:0007359	Focal-onset seizure	27247	NFU1	OMIM:605711
HP:0007359	Focal-onset seizure	5649	RELN	ORPHA:101046
HP:0007359	Focal-onset seizure	9211	LGI1	ORPHA:101046
HP:0007359	Focal-onset seizure	51645	PPIL1	OMIM:619301
HP:0007359	Focal-onset seizure	1468	SLC25A10	OMIM:618972
HP:0007359	Focal-onset seizure	51362	CDC40	OMIM:619302
HP:0007359	Focal-onset seizure	2752	GLUL	OMIM:620806
HP:0007359	Focal-onset seizure	27133	KCNH5	OMIM:620537
HP:0007359	Focal-onset seizure	221927	BRAT1	OMIM:614498
HP:0007359	Focal-onset seizure	7407	VARS1	OMIM:617802
HP:0007359	Focal-onset seizure	23236	PLCB1	OMIM:613722
HP:0007359	Focal-onset seizure	78987	CRELD1	OMIM:620771
HP:0007359	Focal-onset seizure	3736	KCNA1	ORPHA:1934
HP:0007359	Focal-onset seizure	9091	PIGQ	ORPHA:1934
HP:0007359	Focal-onset seizure	2775	GNAO1	ORPHA:1934
HP:0007359	Focal-onset seizure	81603	TRIM8	ORPHA:1934
HP:0007359	Focal-onset seizure	2902	GRIN1	ORPHA:1934
HP:0007359	Focal-onset seizure	2902	GRIN1	ORPHA:208447
HP:0007359	Focal-onset seizure	79751	SLC25A22	ORPHA:1934
HP:0007359	Focal-onset seizure	150094	SIK1	ORPHA:1934
HP:0007359	Focal-onset seizure	8573	CASK	ORPHA:1934
HP:0007359	Focal-onset seizure	23312	DMXL2	ORPHA:1934
HP:0007359	Focal-onset seizure	2917	GRM7	ORPHA:1934
HP:0007359	Focal-onset seizure	11284	PNKP	ORPHA:1934
HP:0007359	Focal-onset seizure	51227	PIGP	ORPHA:1934
HP:0007359	Focal-onset seizure	4761	NEUROD2	ORPHA:1934
HP:0007359	Focal-onset seizure	1188	CLCNKB	ORPHA:358
HP:0007359	Focal-onset seizure	6559	SLC12A3	ORPHA:358
HP:0007359	Focal-onset seizure	90952	ESAM	OMIM:620371
HP:0007359	Focal-onset seizure	2737	GLI3	ORPHA:672
HP:0007359	Focal-onset seizure	55690	PACS1	ORPHA:329224
HP:0007359	Focal-onset seizure	26227	PHGDH	ORPHA:79351
HP:0007359	Focal-onset seizure	10588	MTHFS	OMIM:618367
HP:0007359	Focal-onset seizure	1798	DPAGT1	ORPHA:86309
HP:0007359	Focal-onset seizure	6611	SMS	ORPHA:3063
HP:0007359	Focal-onset seizure	5530	PPP3CA	OMIM:617711
HP:0007359	Focal-onset seizure	23443	SLC35A3	OMIM:615553
HP:0007359	Focal-onset seizure	727676	SNORD118	ORPHA:542310
HP:0007359	Focal-onset seizure	84188	FAR1	OMIM:619338
HP:0007359	Focal-onset seizure	4929	NR4A2	OMIM:619911
HP:0007359	Focal-onset seizure	6507	SLC1A3	ORPHA:2131
HP:0007359	Focal-onset seizure	686	BTD	ORPHA:79241
HP:0007359	Focal-onset seizure	4695	NDUFA2	OMIM:618235
HP:0007359	Focal-onset seizure	25930	PTPN23	OMIM:618890
HP:0007359	Focal-onset seizure	1806	DPYD	ORPHA:1675
HP:0007359	Focal-onset seizure	7532	YWHAG	OMIM:617665
HP:0007359	Focal-onset seizure	137682	NDUFAF6	OMIM:618239
HP:0007359	Focal-onset seizure	10000	AKT3	ORPHA:99802
HP:0007359	Focal-onset seizure	56246	MRAP	OMIM:607398
HP:0007359	Focal-onset seizure	11277	TREX1	ORPHA:247691
HP:0007359	Focal-onset seizure	2137	EXTL3	ORPHA:508533
HP:0007359	Focal-onset seizure	57531	HACE1	ORPHA:464282
HP:0007359	Focal-onset seizure	8943	AP3D1	OMIM:617050
HP:0007359	Focal-onset seizure	6389	SDHA	ORPHA:3208
HP:0007359	Focal-onset seizure	6390	SDHB	ORPHA:3208
HP:0007359	Focal-onset seizure	6392	SDHD	ORPHA:3208
HP:0007359	Focal-onset seizure	644096	SDHAF1	ORPHA:3208
HP:0007359	Focal-onset seizure	29920	PYCR2	ORPHA:481152
HP:0007359	Focal-onset seizure	5457	POU4F1	ORPHA:314647
HP:0007359	Focal-onset seizure	23261	CAMTA1	ORPHA:314647
HP:0007359	Focal-onset seizure	2892	GRIA3	OMIM:300699
HP:0007359	Focal-onset seizure	6506	SLC1A2	OMIM:617105
HP:0007359	Focal-onset seizure	2019	EN1	OMIM:619218
HP:0007359	Focal-onset seizure	56270	WDR45B	OMIM:617977
HP:0007359	Focal-onset seizure	55768	NGLY1	ORPHA:404454
HP:0007359	Focal-onset seizure	5813	PURA	ORPHA:314655
HP:0007359	Focal-onset seizure	1135	CHRNA2	ORPHA:98784
HP:0007359	Focal-onset seizure	57010	CABP4	ORPHA:98784
HP:0007359	Focal-onset seizure	1141	CHRNB2	ORPHA:98784
HP:0007359	Focal-onset seizure	1392	CRH	ORPHA:98784
HP:0007359	Focal-onset seizure	54936	ADPRS	OMIM:618170
HP:0007359	Focal-onset seizure	7030	TFE3	OMIM:301066
HP:0007359	Focal-onset seizure	64801	ARV1	OMIM:617020
HP:0007359	Focal-onset seizure	2590	GALNT2	OMIM:618885
HP:0007359	Focal-onset seizure	79587	CARS2	ORPHA:477774
HP:0007359	Focal-onset seizure	5528	PPP2R5D	OMIM:616355
HP:0007359	Focal-onset seizure	10352	WARS2	OMIM:617710
HP:0007359	Focal-onset seizure	10352	WARS2	ORPHA:572798
HP:0007359	Focal-onset seizure	25977	NECAP1	OMIM:615833
HP:0007359	Focal-onset seizure	284111	SLC13A5	OMIM:615905
HP:0007359	Focal-onset seizure	161725	OTUD7A	OMIM:620790
HP:0007359	Focal-onset seizure	2558	GABRA5	OMIM:618559
HP:0007359	Focal-onset seizure	781	CACNA2D1	OMIM:620149
HP:0007359	Focal-onset seizure	10319	LAMC3	OMIM:614115
HP:0033485	Glomerular basement membrane disruption	977	CD151	OMIM:609057
HP:0030201	Response to drugs acting on neuromuscular transmission	29925	GMPPB	ORPHA:353327
HP:0030201	Response to drugs acting on neuromuscular transmission	2673	GFPT1	ORPHA:353327
HP:0030201	Response to drugs acting on neuromuscular transmission	1798	DPAGT1	ORPHA:353327
HP:0030201	Response to drugs acting on neuromuscular transmission	85365	ALG2	ORPHA:353327
HP:0030201	Response to drugs acting on neuromuscular transmission	199857	ALG14	ORPHA:353327
HP:0030201	Response to drugs acting on neuromuscular transmission	8292	COLQ	ORPHA:98915
HP:0030201	Response to drugs acting on neuromuscular transmission	3913	LAMB2	ORPHA:98915
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10682	EBP	ORPHA:401973
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10682	EBP	OMIM:300960
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10682	EBP	OMIM:302960
HP:0007360	Aplasia/Hypoplasia of the cerebellum	7545	ZIC1	OMIM:616602
HP:0007360	Aplasia/Hypoplasia of the cerebellum	7545	ZIC1	OMIM:618736
HP:0007360	Aplasia/Hypoplasia of the cerebellum	57465	TBC1D24	OMIM:220500
HP:0007360	Aplasia/Hypoplasia of the cerebellum	57465	TBC1D24	ORPHA:79500
HP:0007360	Aplasia/Hypoplasia of the cerebellum	79068	FTO	OMIM:612938
HP:0007360	Aplasia/Hypoplasia of the cerebellum	57492	ARID1B	OMIM:135900
HP:0007360	Aplasia/Hypoplasia of the cerebellum	57492	ARID1B	ORPHA:1465
HP:0007360	Aplasia/Hypoplasia of the cerebellum	3899	AFF3	OMIM:619297
HP:0007360	Aplasia/Hypoplasia of the cerebellum	25885	POLR1A	OMIM:616462
HP:0007360	Aplasia/Hypoplasia of the cerebellum	6597	SMARCA4	ORPHA:1465
HP:0007360	Aplasia/Hypoplasia of the cerebellum	6597	SMARCA4	OMIM:614609
HP:0007360	Aplasia/Hypoplasia of the cerebellum	6659	SOX4	ORPHA:1465
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5977	DPF2	ORPHA:1465
HP:0007360	Aplasia/Hypoplasia of the cerebellum	6601	SMARCC2	ORPHA:1465
HP:0007360	Aplasia/Hypoplasia of the cerebellum	6602	SMARCD1	ORPHA:1465
HP:0007360	Aplasia/Hypoplasia of the cerebellum	196528	ARID2	ORPHA:1465
HP:0007360	Aplasia/Hypoplasia of the cerebellum	6664	SOX11	ORPHA:1465
HP:0007360	Aplasia/Hypoplasia of the cerebellum	27315	PGAP2	OMIM:614207
HP:0007360	Aplasia/Hypoplasia of the cerebellum	157570	ESCO2	ORPHA:2319
HP:0007360	Aplasia/Hypoplasia of the cerebellum	79770	TXNDC15	ORPHA:564
HP:0007360	Aplasia/Hypoplasia of the cerebellum	27031	NPHP3	OMIM:267010
HP:0007360	Aplasia/Hypoplasia of the cerebellum	27031	NPHP3	OMIM:208540
HP:0007360	Aplasia/Hypoplasia of the cerebellum	27031	NPHP3	ORPHA:3032
HP:0007360	Aplasia/Hypoplasia of the cerebellum	171023	ASXL1	ORPHA:97297
HP:0007360	Aplasia/Hypoplasia of the cerebellum	171023	ASXL1	OMIM:605039
HP:0007360	Aplasia/Hypoplasia of the cerebellum	84188	FAR1	ORPHA:438178
HP:0007360	Aplasia/Hypoplasia of the cerebellum	84188	FAR1	OMIM:616154
HP:0007360	Aplasia/Hypoplasia of the cerebellum	55605	KIF21A	ORPHA:994
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4927	NUP88	ORPHA:994
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4654	MYOD1	ORPHA:994
HP:0007360	Aplasia/Hypoplasia of the cerebellum	54551	MAGEL2	ORPHA:994
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5913	RAPSN	ORPHA:994
HP:0007360	Aplasia/Hypoplasia of the cerebellum	6572	SLC18A3	ORPHA:994
HP:0007360	Aplasia/Hypoplasia of the cerebellum	285489	DOK7	ORPHA:994
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4534	MTM1	OMIM:310400
HP:0007360	Aplasia/Hypoplasia of the cerebellum	526	ATP6V1B2	ORPHA:79500
HP:0007360	Aplasia/Hypoplasia of the cerebellum	54880	BCOR	OMIM:300166
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5500	PPP1CB	OMIM:617506
HP:0007360	Aplasia/Hypoplasia of the cerebellum	54676	GTPBP2	OMIM:617988
HP:0007360	Aplasia/Hypoplasia of the cerebellum	132884	EVC2	OMIM:225500
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2121	EVC	OMIM:225500
HP:0007360	Aplasia/Hypoplasia of the cerebellum	3798	KIF5A	OMIM:617235
HP:0007360	Aplasia/Hypoplasia of the cerebellum	1028	CDKN1C	OMIM:130650
HP:0007360	Aplasia/Hypoplasia of the cerebellum	3481	IGF2	OMIM:130650
HP:0007360	Aplasia/Hypoplasia of the cerebellum	3784	KCNQ1	OMIM:130650
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10984	KCNQ1OT1	OMIM:130650
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10195	ALG3	ORPHA:79321
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10128	LRPPRC	OMIM:220111
HP:0007360	Aplasia/Hypoplasia of the cerebellum	54892	NCAPG2	OMIM:618460
HP:0007360	Aplasia/Hypoplasia of the cerebellum	60529	ALX4	OMIM:613451
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4750	NEK1	OMIM:263520
HP:0007360	Aplasia/Hypoplasia of the cerebellum	23241	PACS2	OMIM:618067
HP:0007360	Aplasia/Hypoplasia of the cerebellum	100151683	RNU4ATAC	OMIM:210710
HP:0007360	Aplasia/Hypoplasia of the cerebellum	26160	IFT172	OMIM:615630
HP:0007360	Aplasia/Hypoplasia of the cerebellum	6091	ROBO1	OMIM:620305
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2355	FOSL2	OMIM:620789
HP:0007360	Aplasia/Hypoplasia of the cerebellum	65062	TMEM237	OMIM:614424
HP:0007360	Aplasia/Hypoplasia of the cerebellum	65062	TMEM237	ORPHA:220497
HP:0007360	Aplasia/Hypoplasia of the cerebellum	65062	TMEM237	ORPHA:2318
HP:0007360	Aplasia/Hypoplasia of the cerebellum	65062	TMEM237	ORPHA:475
HP:0007360	Aplasia/Hypoplasia of the cerebellum	55733	HHAT	OMIM:600092
HP:0007360	Aplasia/Hypoplasia of the cerebellum	84320	ACBD6	OMIM:620785
HP:0007360	Aplasia/Hypoplasia of the cerebellum	8496	PPFIBP1	OMIM:620024
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4867	NPHP1	OMIM:609583
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4867	NPHP1	ORPHA:220497
HP:0007360	Aplasia/Hypoplasia of the cerebellum	64324	NSD1	ORPHA:821
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9578	CDC42BPB	OMIM:619841
HP:0007360	Aplasia/Hypoplasia of the cerebellum	3020	H3-3A	OMIM:619720
HP:0007360	Aplasia/Hypoplasia of the cerebellum	219854	TMEM218	OMIM:619562
HP:0007360	Aplasia/Hypoplasia of the cerebellum	219854	TMEM218	ORPHA:475
HP:0007360	Aplasia/Hypoplasia of the cerebellum	473	RERE	OMIM:616975
HP:0007360	Aplasia/Hypoplasia of the cerebellum	473	RERE	ORPHA:494344
HP:0007360	Aplasia/Hypoplasia of the cerebellum	7280	TUBB2A	OMIM:615763
HP:0007360	Aplasia/Hypoplasia of the cerebellum	79644	SRD5A3	OMIM:612379
HP:0007360	Aplasia/Hypoplasia of the cerebellum	54806	AHI1	ORPHA:220493
HP:0007360	Aplasia/Hypoplasia of the cerebellum	54806	AHI1	OMIM:608629
HP:0007360	Aplasia/Hypoplasia of the cerebellum	54806	AHI1	ORPHA:475
HP:0007360	Aplasia/Hypoplasia of the cerebellum	95681	CEP41	ORPHA:220493
HP:0007360	Aplasia/Hypoplasia of the cerebellum	95681	CEP41	ORPHA:475
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10501	SEMA6B	OMIM:618876
HP:0007360	Aplasia/Hypoplasia of the cerebellum	57082	KNL1	OMIM:604321
HP:0007360	Aplasia/Hypoplasia of the cerebellum	7846	TUBA1A	OMIM:611603
HP:0007360	Aplasia/Hypoplasia of the cerebellum	7846	TUBA1A	ORPHA:467166
HP:0007360	Aplasia/Hypoplasia of the cerebellum	7846	TUBA1A	ORPHA:171680
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9382	COG1	OMIM:611209
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9382	COG1	ORPHA:263508
HP:0007360	Aplasia/Hypoplasia of the cerebellum	55777	MBD5	OMIM:156200
HP:0007360	Aplasia/Hypoplasia of the cerebellum	203068	TUBB	OMIM:615771
HP:0007360	Aplasia/Hypoplasia of the cerebellum	1778	DYNC1H1	OMIM:614563
HP:0007360	Aplasia/Hypoplasia of the cerebellum	23090	ZNF423	OMIM:614844
HP:0007360	Aplasia/Hypoplasia of the cerebellum	23090	ZNF423	ORPHA:2318
HP:0007360	Aplasia/Hypoplasia of the cerebellum	1801	DPH1	OMIM:616901
HP:0007360	Aplasia/Hypoplasia of the cerebellum	1801	DPH1	ORPHA:459061
HP:0007360	Aplasia/Hypoplasia of the cerebellum	22897	CEP164	OMIM:614845
HP:0007360	Aplasia/Hypoplasia of the cerebellum	54974	THG1L	OMIM:618800
HP:0007360	Aplasia/Hypoplasia of the cerebellum	79583	TMEM231	ORPHA:2318
HP:0007360	Aplasia/Hypoplasia of the cerebellum	79583	TMEM231	ORPHA:2754
HP:0007360	Aplasia/Hypoplasia of the cerebellum	51524	TMEM138	ORPHA:2318
HP:0007360	Aplasia/Hypoplasia of the cerebellum	51259	TMEM216	ORPHA:2318
HP:0007360	Aplasia/Hypoplasia of the cerebellum	51259	TMEM216	ORPHA:2754
HP:0007360	Aplasia/Hypoplasia of the cerebellum	23116	TOGARAM1	OMIM:619185
HP:0007360	Aplasia/Hypoplasia of the cerebellum	23116	TOGARAM1	ORPHA:475
HP:0007360	Aplasia/Hypoplasia of the cerebellum	7703	PCGF2	OMIM:618371
HP:0007360	Aplasia/Hypoplasia of the cerebellum	80856	LNPK	OMIM:618090
HP:0007360	Aplasia/Hypoplasia of the cerebellum	23258	DENND5A	OMIM:617281
HP:0007360	Aplasia/Hypoplasia of the cerebellum	26278	SACS	ORPHA:98
HP:0007360	Aplasia/Hypoplasia of the cerebellum	79600	TCTN1	OMIM:614173
HP:0007360	Aplasia/Hypoplasia of the cerebellum	79600	TCTN1	ORPHA:475
HP:0007360	Aplasia/Hypoplasia of the cerebellum	127833	SYT2	OMIM:619461
HP:0007360	Aplasia/Hypoplasia of the cerebellum	1822	ATN1	OMIM:618494
HP:0007360	Aplasia/Hypoplasia of the cerebellum	8550	MAPKAPK5	OMIM:619869
HP:0007360	Aplasia/Hypoplasia of the cerebellum	545	ATR	OMIM:210600
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10352	WARS2	ORPHA:572798
HP:0007360	Aplasia/Hypoplasia of the cerebellum	1974	EIF4A2	OMIM:620455
HP:0007360	Aplasia/Hypoplasia of the cerebellum	6874	TAF4	OMIM:620450
HP:0007360	Aplasia/Hypoplasia of the cerebellum	64864	RFX7	OMIM:620330
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2296	FOXC1	OMIM:602482
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2296	FOXC1	OMIM:601631
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9851	KIAA0753	ORPHA:475
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9851	KIAA0753	OMIM:619476
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9851	KIAA0753	ORPHA:2754
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9851	KIAA0753	OMIM:617127
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5147	PDE6D	ORPHA:475
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5147	PDE6D	ORPHA:2754
HP:0007360	Aplasia/Hypoplasia of the cerebellum	8481	OFD1	ORPHA:475
HP:0007360	Aplasia/Hypoplasia of the cerebellum	8481	OFD1	OMIM:300804
HP:0007360	Aplasia/Hypoplasia of the cerebellum	8481	OFD1	ORPHA:2754
HP:0007360	Aplasia/Hypoplasia of the cerebellum	51684	SUFU	ORPHA:475
HP:0007360	Aplasia/Hypoplasia of the cerebellum	65250	CPLANE1	ORPHA:475
HP:0007360	Aplasia/Hypoplasia of the cerebellum	65250	CPLANE1	OMIM:277170
HP:0007360	Aplasia/Hypoplasia of the cerebellum	65250	CPLANE1	ORPHA:2754
HP:0007360	Aplasia/Hypoplasia of the cerebellum	200894	ARL13B	ORPHA:475
HP:0007360	Aplasia/Hypoplasia of the cerebellum	219844	HYLS1	ORPHA:475
HP:0007360	Aplasia/Hypoplasia of the cerebellum	23247	KATNIP	ORPHA:475
HP:0007360	Aplasia/Hypoplasia of the cerebellum	23247	KATNIP	OMIM:616784
HP:0007360	Aplasia/Hypoplasia of the cerebellum	26123	TCTN3	ORPHA:475
HP:0007360	Aplasia/Hypoplasia of the cerebellum	26123	TCTN3	ORPHA:2754
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10464	PIBF1	ORPHA:475
HP:0007360	Aplasia/Hypoplasia of the cerebellum	80210	ARMC9	ORPHA:475
HP:0007360	Aplasia/Hypoplasia of the cerebellum	25776	CBY1	ORPHA:475
HP:0007360	Aplasia/Hypoplasia of the cerebellum	27077	B9D1	ORPHA:475
HP:0007360	Aplasia/Hypoplasia of the cerebellum	403	ARL3	ORPHA:475
HP:0007360	Aplasia/Hypoplasia of the cerebellum	403	ARL3	OMIM:618161
HP:0007360	Aplasia/Hypoplasia of the cerebellum	80173	IFT74	ORPHA:475
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10804	GJB6	ORPHA:477
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2706	GJB2	ORPHA:477
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2615	LRRC32	OMIM:619074
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4352	MPL	OMIM:604498
HP:0007360	Aplasia/Hypoplasia of the cerebellum	57187	THOC2	OMIM:300957
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2892	GRIA3	ORPHA:364028
HP:0007360	Aplasia/Hypoplasia of the cerebellum	56006	SMG9	OMIM:616920
HP:0007360	Aplasia/Hypoplasia of the cerebellum	163786	SASS6	OMIM:616402
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4361	MRE11	ORPHA:251347
HP:0007360	Aplasia/Hypoplasia of the cerebellum	51692	CPSF3	OMIM:619876
HP:0007360	Aplasia/Hypoplasia of the cerebellum	27286	SRPX2	ORPHA:98889
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5728	PTEN	ORPHA:101070
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10236	HNRNPR	OMIM:620073
HP:0007360	Aplasia/Hypoplasia of the cerebellum	51611	DPH5	OMIM:620070
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2232	FDXR	ORPHA:543470
HP:0007360	Aplasia/Hypoplasia of the cerebellum	90416	CCDC32	OMIM:619123
HP:0007360	Aplasia/Hypoplasia of the cerebellum	284217	LAMA1	OMIM:615960
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5591	PRKDC	OMIM:615966
HP:0007360	Aplasia/Hypoplasia of the cerebellum	54499	TMCO1	ORPHA:1394
HP:0007360	Aplasia/Hypoplasia of the cerebellum	79971	WLS	OMIM:619648
HP:0007360	Aplasia/Hypoplasia of the cerebellum	79633	FAT4	ORPHA:314679
HP:0007360	Aplasia/Hypoplasia of the cerebellum	8642	DCHS1	ORPHA:314679
HP:0007360	Aplasia/Hypoplasia of the cerebellum	3187	HNRNPH1	OMIM:620083
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4123	MAN2C1	OMIM:619775
HP:0007360	Aplasia/Hypoplasia of the cerebellum	738	VPS51	OMIM:618606
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2806	GOT2	OMIM:618721
HP:0007360	Aplasia/Hypoplasia of the cerebellum	79645	CLXN	OMIM:620642
HP:0007360	Aplasia/Hypoplasia of the cerebellum	84081	NSRP1	OMIM:620001
HP:0007360	Aplasia/Hypoplasia of the cerebellum	22931	RAB18	ORPHA:2510
HP:0007360	Aplasia/Hypoplasia of the cerebellum	128637	TBC1D20	ORPHA:2510
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10079	ATP9A	OMIM:620242
HP:0007360	Aplasia/Hypoplasia of the cerebellum	1376	CPT2	ORPHA:228308
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10210	TOPORS	ORPHA:2754
HP:0007360	Aplasia/Hypoplasia of the cerebellum	317662	FAM149B1	ORPHA:2754
HP:0007360	Aplasia/Hypoplasia of the cerebellum	129285	PPP1R21	OMIM:619383
HP:0007360	Aplasia/Hypoplasia of the cerebellum	79023	NUP37	OMIM:618179
HP:0007360	Aplasia/Hypoplasia of the cerebellum	8295	TRRAP	OMIM:618454
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9181	ARHGEF2	OMIM:617523
HP:0007360	Aplasia/Hypoplasia of the cerebellum	221078	NSUN6	OMIM:620779
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2719	GPC3	OMIM:312870
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2239	GPC4	OMIM:312870
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5908	RAP1B	OMIM:620654
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9230	RAB11B	OMIM:617807
HP:0007360	Aplasia/Hypoplasia of the cerebellum	1802	DPH2	ORPHA:459061
HP:0007360	Aplasia/Hypoplasia of the cerebellum	80816	ASXL3	ORPHA:352577
HP:0007360	Aplasia/Hypoplasia of the cerebellum	6095	RORA	OMIM:618060
HP:0007360	Aplasia/Hypoplasia of the cerebellum	11113	CIT	OMIM:617090
HP:0007360	Aplasia/Hypoplasia of the cerebellum	27183	VPS4A	OMIM:619273
HP:0007360	Aplasia/Hypoplasia of the cerebellum	29899	GPSM2	OMIM:604213
HP:0007360	Aplasia/Hypoplasia of the cerebellum	11253	MAN1B1	ORPHA:397941
HP:0007360	Aplasia/Hypoplasia of the cerebellum	11253	MAN1B1	OMIM:614202
HP:0007360	Aplasia/Hypoplasia of the cerebellum	26235	FBXL4	OMIM:615471
HP:0007360	Aplasia/Hypoplasia of the cerebellum	83700	JAM3	OMIM:613730
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2972	BRF1	OMIM:616202
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2972	BRF1	ORPHA:444072
HP:0007360	Aplasia/Hypoplasia of the cerebellum	55627	SMPD4	OMIM:618622
HP:0007360	Aplasia/Hypoplasia of the cerebellum	55325	UFSP2	OMIM:620028
HP:0007360	Aplasia/Hypoplasia of the cerebellum	1736	DKC1	OMIM:305000
HP:0007360	Aplasia/Hypoplasia of the cerebellum	1736	DKC1	ORPHA:3322
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5457	POU4F1	ORPHA:314647
HP:0007360	Aplasia/Hypoplasia of the cerebellum	23261	CAMTA1	ORPHA:314647
HP:0007360	Aplasia/Hypoplasia of the cerebellum	23261	CAMTA1	OMIM:614756
HP:0007360	Aplasia/Hypoplasia of the cerebellum	85300	ATCAY	ORPHA:94122
HP:0007360	Aplasia/Hypoplasia of the cerebellum	85300	ATCAY	OMIM:601238
HP:0007360	Aplasia/Hypoplasia of the cerebellum	57176	VARS2	OMIM:615917
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9690	UBE3C	OMIM:620270
HP:0007360	Aplasia/Hypoplasia of the cerebellum	79848	CSPP1	ORPHA:397715
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9786	KIAA0586	ORPHA:397715
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4983	OPHN1	OMIM:300486
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4983	OPHN1	ORPHA:137831
HP:0007360	Aplasia/Hypoplasia of the cerebellum	55112	DYNC2I1	ORPHA:93271
HP:0007360	Aplasia/Hypoplasia of the cerebellum	57560	IFT80	ORPHA:93271
HP:0007360	Aplasia/Hypoplasia of the cerebellum	57539	WDR35	ORPHA:93271
HP:0007360	Aplasia/Hypoplasia of the cerebellum	79659	DYNC2H1	ORPHA:93271
HP:0007360	Aplasia/Hypoplasia of the cerebellum	89891	DYNC2I2	ORPHA:93271
HP:0007360	Aplasia/Hypoplasia of the cerebellum	80232	WDR26	ORPHA:513456
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5932	RBBP8	OMIM:606744
HP:0007360	Aplasia/Hypoplasia of the cerebellum	51506	UFC1	OMIM:618076
HP:0007360	Aplasia/Hypoplasia of the cerebellum	84892	POMGNT2	OMIM:614830
HP:0007360	Aplasia/Hypoplasia of the cerebellum	84892	POMGNT2	ORPHA:899
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10730	YME1L1	OMIM:617302
HP:0007360	Aplasia/Hypoplasia of the cerebellum	55690	PACS1	OMIM:615009
HP:0007360	Aplasia/Hypoplasia of the cerebellum	55690	PACS1	ORPHA:329224
HP:0007360	Aplasia/Hypoplasia of the cerebellum	84197	POMK	OMIM:615249
HP:0007360	Aplasia/Hypoplasia of the cerebellum	84197	POMK	ORPHA:899
HP:0007360	Aplasia/Hypoplasia of the cerebellum	84197	POMK	ORPHA:370959
HP:0007360	Aplasia/Hypoplasia of the cerebellum	6507	SLC1A3	OMIM:612656
HP:0007360	Aplasia/Hypoplasia of the cerebellum	51112	TRAPPC12	OMIM:617669
HP:0007360	Aplasia/Hypoplasia of the cerebellum	55780	ERMARD	ORPHA:75857
HP:0007360	Aplasia/Hypoplasia of the cerebellum	29072	SETD2	OMIM:620155
HP:0007360	Aplasia/Hypoplasia of the cerebellum	7015	TERT	OMIM:613989
HP:0007360	Aplasia/Hypoplasia of the cerebellum	7015	TERT	ORPHA:3322
HP:0007360	Aplasia/Hypoplasia of the cerebellum	7015	TERT	OMIM:127550
HP:0007360	Aplasia/Hypoplasia of the cerebellum	271	AMPD2	OMIM:615809
HP:0007360	Aplasia/Hypoplasia of the cerebellum	3735	KARS1	ORPHA:3240
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9289	ADGRG1	OMIM:606854
HP:0007360	Aplasia/Hypoplasia of the cerebellum	51360	MBTPS2	ORPHA:2273
HP:0007360	Aplasia/Hypoplasia of the cerebellum	535	ATP6V0A1	OMIM:619971
HP:0007360	Aplasia/Hypoplasia of the cerebellum	26277	TINF2	OMIM:613990
HP:0007360	Aplasia/Hypoplasia of the cerebellum	26277	TINF2	ORPHA:3322
HP:0007360	Aplasia/Hypoplasia of the cerebellum	26277	TINF2	OMIM:268130
HP:0007360	Aplasia/Hypoplasia of the cerebellum	26277	TINF2	OMIM:127550
HP:0007360	Aplasia/Hypoplasia of the cerebellum	8913	CACNA1G	OMIM:618087
HP:0007360	Aplasia/Hypoplasia of the cerebellum	1020	CDK5	OMIM:616342
HP:0007360	Aplasia/Hypoplasia of the cerebellum	83871	RAB34	OMIM:620718
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5119	CHMP1A	OMIM:614961
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10381	TUBB3	ORPHA:300570
HP:0007360	Aplasia/Hypoplasia of the cerebellum	7436	VLDLR	OMIM:224050
HP:0007360	Aplasia/Hypoplasia of the cerebellum	6773	STAT2	OMIM:618886
HP:0007360	Aplasia/Hypoplasia of the cerebellum	93627	TBCK	OMIM:616900
HP:0007360	Aplasia/Hypoplasia of the cerebellum	114034	TOE1	OMIM:614969
HP:0007360	Aplasia/Hypoplasia of the cerebellum	8289	ARID1A	OMIM:614607
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10939	AFG3L2	ORPHA:313772
HP:0007360	Aplasia/Hypoplasia of the cerebellum	6598	SMARCB1	OMIM:614608
HP:0007360	Aplasia/Hypoplasia of the cerebellum	157680	VPS13B	OMIM:216550
HP:0007360	Aplasia/Hypoplasia of the cerebellum	22	ABCB7	OMIM:301310
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5354	PLP1	ORPHA:280210
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9839	ZEB2	ORPHA:261552
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9839	ZEB2	ORPHA:261537
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9896	FIG4	ORPHA:3472
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9896	FIG4	OMIM:216340
HP:0007360	Aplasia/Hypoplasia of the cerebellum	55697	VAC14	ORPHA:3472
HP:0007360	Aplasia/Hypoplasia of the cerebellum	652	BMP4	OMIM:607932
HP:0007360	Aplasia/Hypoplasia of the cerebellum	57498	KIDINS220	OMIM:619501
HP:0007360	Aplasia/Hypoplasia of the cerebellum	23312	DMXL2	OMIM:616113
HP:0007360	Aplasia/Hypoplasia of the cerebellum	23312	DMXL2	ORPHA:453533
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5073	PARN	OMIM:616353
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5073	PARN	ORPHA:3322
HP:0007360	Aplasia/Hypoplasia of the cerebellum	23036	ZNF292	OMIM:619188
HP:0007360	Aplasia/Hypoplasia of the cerebellum	84314	TMEM107	OMIM:617562
HP:0007360	Aplasia/Hypoplasia of the cerebellum	80776	B9D2	OMIM:614175
HP:0007360	Aplasia/Hypoplasia of the cerebellum	26005	C2CD3	OMIM:615948
HP:0007360	Aplasia/Hypoplasia of the cerebellum	55154	MSTO1	ORPHA:502423
HP:0007360	Aplasia/Hypoplasia of the cerebellum	492	ATP2B3	ORPHA:314978
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4247	MGAT2	OMIM:212066
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4247	MGAT2	ORPHA:79329
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5373	PMM2	OMIM:212065
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5373	PMM2	ORPHA:79318
HP:0007360	Aplasia/Hypoplasia of the cerebellum	26227	PHGDH	OMIM:256520
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2316	FLNA	ORPHA:90652
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2316	FLNA	OMIM:300049
HP:0007360	Aplasia/Hypoplasia of the cerebellum	8241	RBM10	OMIM:311900
HP:0007360	Aplasia/Hypoplasia of the cerebellum	8241	RBM10	ORPHA:2886
HP:0007360	Aplasia/Hypoplasia of the cerebellum	23265	EXOC7	OMIM:619072
HP:0007360	Aplasia/Hypoplasia of the cerebellum	1798	DPAGT1	ORPHA:86309
HP:0007360	Aplasia/Hypoplasia of the cerebellum	1182	CLCN3	OMIM:619512
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4593	MUSK	OMIM:208150
HP:0007360	Aplasia/Hypoplasia of the cerebellum	84879	MFSD2A	OMIM:616486
HP:0007360	Aplasia/Hypoplasia of the cerebellum	51604	PIGT	OMIM:615398
HP:0007360	Aplasia/Hypoplasia of the cerebellum	23126	POGZ	OMIM:616364
HP:0007360	Aplasia/Hypoplasia of the cerebellum	55773	TBC1D23	OMIM:617695
HP:0007360	Aplasia/Hypoplasia of the cerebellum	55280	CWF19L1	OMIM:616127
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5828	PEX2	OMIM:614866
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10013	HDAC6	ORPHA:163966
HP:0007360	Aplasia/Hypoplasia of the cerebellum	3912	LAMB1	ORPHA:352682
HP:0007360	Aplasia/Hypoplasia of the cerebellum	6134	RPL10	ORPHA:459070
HP:0007360	Aplasia/Hypoplasia of the cerebellum	6134	RPL10	OMIM:300998
HP:0007360	Aplasia/Hypoplasia of the cerebellum	55165	CEP55	OMIM:236500
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5649	RELN	OMIM:257320
HP:0007360	Aplasia/Hypoplasia of the cerebellum	11128	POLR3A	ORPHA:447896
HP:0007360	Aplasia/Hypoplasia of the cerebellum	11128	POLR3A	ORPHA:3455
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5605	MAP2K2	OMIM:615280
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4644	MYO5A	ORPHA:33445
HP:0007360	Aplasia/Hypoplasia of the cerebellum	79813	EHMT1	ORPHA:261652
HP:0007360	Aplasia/Hypoplasia of the cerebellum	58508	KMT2C	ORPHA:261652
HP:0007360	Aplasia/Hypoplasia of the cerebellum	8818	DPM2	OMIM:615042
HP:0007360	Aplasia/Hypoplasia of the cerebellum	8818	DPM2	ORPHA:329178
HP:0007360	Aplasia/Hypoplasia of the cerebellum	8733	GPAA1	ORPHA:529665
HP:0007360	Aplasia/Hypoplasia of the cerebellum	8733	GPAA1	OMIM:617810
HP:0007360	Aplasia/Hypoplasia of the cerebellum	11041	B4GAT1	OMIM:615287
HP:0007360	Aplasia/Hypoplasia of the cerebellum	11041	B4GAT1	ORPHA:899
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9474	ATG5	OMIM:617584
HP:0007360	Aplasia/Hypoplasia of the cerebellum	59336	PRDM13	OMIM:619761
HP:0007360	Aplasia/Hypoplasia of the cerebellum	347733	TUBB2B	OMIM:610031
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9928	KIF14	OMIM:616258
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9928	KIF14	OMIM:617914
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10297	APC2	OMIM:618677
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5340	PLG	OMIM:217090
HP:0007360	Aplasia/Hypoplasia of the cerebellum	3708	ITPR1	OMIM:117360
HP:0007360	Aplasia/Hypoplasia of the cerebellum	3708	ITPR1	OMIM:206700
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9562	MINPP1	OMIM:619527
HP:0007360	Aplasia/Hypoplasia of the cerebellum	6605	SMARCE1	OMIM:616938
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2683	B4GALT1	ORPHA:79332
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2006	ELN	OMIM:194050
HP:0007360	Aplasia/Hypoplasia of the cerebellum	51085	MLXIPL	OMIM:194050
HP:0007360	Aplasia/Hypoplasia of the cerebellum	55691	FRMD4A	OMIM:616819
HP:0007360	Aplasia/Hypoplasia of the cerebellum	51322	WAC	ORPHA:284169
HP:0007360	Aplasia/Hypoplasia of the cerebellum	63895	PIEZO2	OMIM:248700
HP:0007360	Aplasia/Hypoplasia of the cerebellum	63895	PIEZO2	ORPHA:2461
HP:0007360	Aplasia/Hypoplasia of the cerebellum	8573	CASK	ORPHA:163937
HP:0007360	Aplasia/Hypoplasia of the cerebellum	8573	CASK	OMIM:300749
HP:0007360	Aplasia/Hypoplasia of the cerebellum	23162	MAPK8IP3	OMIM:618443
HP:0007360	Aplasia/Hypoplasia of the cerebellum	7355	SLC35A2	OMIM:300896
HP:0007360	Aplasia/Hypoplasia of the cerebellum	55120	FANCL	OMIM:614083
HP:0007360	Aplasia/Hypoplasia of the cerebellum	26047	CNTNAP2	OMIM:610042
HP:0007360	Aplasia/Hypoplasia of the cerebellum	125988	MICOS13	OMIM:618329
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10735	STAG2	ORPHA:521258
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2146	EZH2	OMIM:277590
HP:0007360	Aplasia/Hypoplasia of the cerebellum	283989	TSEN54	OMIM:277470
HP:0007360	Aplasia/Hypoplasia of the cerebellum	283989	TSEN54	OMIM:225753
HP:0007360	Aplasia/Hypoplasia of the cerebellum	283989	TSEN54	ORPHA:2524
HP:0007360	Aplasia/Hypoplasia of the cerebellum	29929	ALG6	ORPHA:79320
HP:0007360	Aplasia/Hypoplasia of the cerebellum	51750	RTEL1	ORPHA:3322
HP:0007360	Aplasia/Hypoplasia of the cerebellum	51750	RTEL1	OMIM:615190
HP:0007360	Aplasia/Hypoplasia of the cerebellum	65057	ACD	ORPHA:3322
HP:0007360	Aplasia/Hypoplasia of the cerebellum	65057	ACD	OMIM:616553
HP:0007360	Aplasia/Hypoplasia of the cerebellum	79087	ALG12	ORPHA:79324
HP:0007360	Aplasia/Hypoplasia of the cerebellum	3897	L1CAM	OMIM:304100
HP:0007360	Aplasia/Hypoplasia of the cerebellum	3897	L1CAM	ORPHA:1497
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10533	ATG7	OMIM:619422
HP:0007360	Aplasia/Hypoplasia of the cerebellum	51645	PPIL1	OMIM:619301
HP:0007360	Aplasia/Hypoplasia of the cerebellum	6576	SLC25A1	OMIM:615182
HP:0007360	Aplasia/Hypoplasia of the cerebellum	51362	CDC40	OMIM:619302
HP:0007360	Aplasia/Hypoplasia of the cerebellum	54903	MKS1	OMIM:249000
HP:0007360	Aplasia/Hypoplasia of the cerebellum	51117	COQ4	OMIM:616276
HP:0007360	Aplasia/Hypoplasia of the cerebellum	256297	PTF1A	ORPHA:65288
HP:0007360	Aplasia/Hypoplasia of the cerebellum	256297	PTF1A	OMIM:609069
HP:0007360	Aplasia/Hypoplasia of the cerebellum	55656	INTS8	OMIM:618572
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10243	GPHN	OMIM:615501
HP:0007360	Aplasia/Hypoplasia of the cerebellum	29968	PSAT1	OMIM:616038
HP:0007360	Aplasia/Hypoplasia of the cerebellum	51013	EXOSC1	OMIM:619304
HP:0007360	Aplasia/Hypoplasia of the cerebellum	55770	EXOC2	OMIM:619306
HP:0007360	Aplasia/Hypoplasia of the cerebellum	57724	EPG5	ORPHA:1493
HP:0007360	Aplasia/Hypoplasia of the cerebellum	84181	CHD6	ORPHA:2108
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2263	FGFR2	OMIM:101200
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2263	FGFR2	ORPHA:207
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9361	LONP1	OMIM:600373
HP:0007360	Aplasia/Hypoplasia of the cerebellum	1281	COL3A1	OMIM:618343
HP:0007360	Aplasia/Hypoplasia of the cerebellum	30000	TNPO2	OMIM:619556
HP:0007360	Aplasia/Hypoplasia of the cerebellum	160418	TMTC3	OMIM:617255
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2187	FANCB	OMIM:300514
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2879	GPX4	ORPHA:93317
HP:0007360	Aplasia/Hypoplasia of the cerebellum	124997	WDR81	OMIM:610185
HP:0007360	Aplasia/Hypoplasia of the cerebellum	124997	WDR81	OMIM:617967
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2495	FTH1	OMIM:620669
HP:0007360	Aplasia/Hypoplasia of the cerebellum	54973	INTS11	OMIM:620428
HP:0007360	Aplasia/Hypoplasia of the cerebellum	55505	NOP10	OMIM:620425
HP:0007360	Aplasia/Hypoplasia of the cerebellum	253738	EBF3	ORPHA:96148
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4838	NODAL	OMIM:270100
HP:0007360	Aplasia/Hypoplasia of the cerebellum	55593	OTUD5	OMIM:301056
HP:0007360	Aplasia/Hypoplasia of the cerebellum	128869	PIGU	OMIM:618590
HP:0007360	Aplasia/Hypoplasia of the cerebellum	1436	CSF1R	OMIM:618476
HP:0007360	Aplasia/Hypoplasia of the cerebellum	1062	CENPE	OMIM:616051
HP:0007360	Aplasia/Hypoplasia of the cerebellum	6651	SON	OMIM:617140
HP:0007360	Aplasia/Hypoplasia of the cerebellum	116461	TSEN15	OMIM:617026
HP:0007360	Aplasia/Hypoplasia of the cerebellum	116461	TSEN15	ORPHA:2524
HP:0007360	Aplasia/Hypoplasia of the cerebellum	84162	BLTP1	OMIM:617822
HP:0007360	Aplasia/Hypoplasia of the cerebellum	998	CDC42	OMIM:616737
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10273	STUB1	OMIM:615768
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10273	STUB1	ORPHA:412057
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4081	MAB21L1	OMIM:618479
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4081	MAB21L1	ORPHA:495875
HP:0007360	Aplasia/Hypoplasia of the cerebellum	8320	EOMES	ORPHA:171703
HP:0007360	Aplasia/Hypoplasia of the cerebellum	157922	CAMSAP1	OMIM:620316
HP:0007360	Aplasia/Hypoplasia of the cerebellum	7012	TERC	OMIM:127550
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5048	PAFAH1B1	OMIM:607432
HP:0007360	Aplasia/Hypoplasia of the cerebellum	54820	NDE1	OMIM:605013
HP:0007360	Aplasia/Hypoplasia of the cerebellum	54820	NDE1	OMIM:614019
HP:0007360	Aplasia/Hypoplasia of the cerebellum	64221	ROBO3	OMIM:607313
HP:0007360	Aplasia/Hypoplasia of the cerebellum	1282	COL4A1	ORPHA:899
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10329	RXYLT1	ORPHA:899
HP:0007360	Aplasia/Hypoplasia of the cerebellum	1605	DAG1	ORPHA:899
HP:0007360	Aplasia/Hypoplasia of the cerebellum	7547	ZIC3	OMIM:306955
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4784	NFIX	OMIM:602535
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4784	NFIX	ORPHA:561
HP:0007360	Aplasia/Hypoplasia of the cerebellum	8925	HERC1	ORPHA:457359
HP:0007360	Aplasia/Hypoplasia of the cerebellum	84340	GFM2	ORPHA:565624
HP:0007360	Aplasia/Hypoplasia of the cerebellum	23221	RHOBTB2	OMIM:618004
HP:0007360	Aplasia/Hypoplasia of the cerebellum	22930	RAB3GAP1	OMIM:600118
HP:0007360	Aplasia/Hypoplasia of the cerebellum	79641	ROGDI	OMIM:226750
HP:0007360	Aplasia/Hypoplasia of the cerebellum	11274	USP18	OMIM:617397
HP:0007360	Aplasia/Hypoplasia of the cerebellum	26007	TKFC	OMIM:618805
HP:0007360	Aplasia/Hypoplasia of the cerebellum	267010	RNU12	OMIM:620208
HP:0007360	Aplasia/Hypoplasia of the cerebellum	80746	TSEN2	OMIM:612389
HP:0007360	Aplasia/Hypoplasia of the cerebellum	80746	TSEN2	ORPHA:2524
HP:0007360	Aplasia/Hypoplasia of the cerebellum	400569	MED11	OMIM:620327
HP:0007360	Aplasia/Hypoplasia of the cerebellum	1063	CENPF	OMIM:243605
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2077	ERF	ORPHA:207
HP:0007360	Aplasia/Hypoplasia of the cerebellum	23203	PMPCA	OMIM:213200
HP:0007360	Aplasia/Hypoplasia of the cerebellum	6821	SUOX	OMIM:272300
HP:0007360	Aplasia/Hypoplasia of the cerebellum	191	AHCY	ORPHA:88618
HP:0007360	Aplasia/Hypoplasia of the cerebellum	6712	SPTBN2	OMIM:600224
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5277	PIGA	OMIM:300868
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4700	NDUFA6	OMIM:618253
HP:0007360	Aplasia/Hypoplasia of the cerebellum	3188	HNRNPH2	OMIM:300986
HP:0007360	Aplasia/Hypoplasia of the cerebellum	83696	TRAPPC9	ORPHA:352530
HP:0007360	Aplasia/Hypoplasia of the cerebellum	55210	ATAD3A	OMIM:618810
HP:0007360	Aplasia/Hypoplasia of the cerebellum	64374	SIL1	ORPHA:559
HP:0007360	Aplasia/Hypoplasia of the cerebellum	57572	DOCK6	OMIM:614219
HP:0007360	Aplasia/Hypoplasia of the cerebellum	80347	COASY	OMIM:618266
HP:0007360	Aplasia/Hypoplasia of the cerebellum	340075	ARSI	ORPHA:401815
HP:0007360	Aplasia/Hypoplasia of the cerebellum	57003	CCDC47	OMIM:618268
HP:0007360	Aplasia/Hypoplasia of the cerebellum	112858	TP53RK	OMIM:617730
HP:0007360	Aplasia/Hypoplasia of the cerebellum	27107	ZBTB11	OMIM:618383
HP:0007360	Aplasia/Hypoplasia of the cerebellum	7737	RNF113A	OMIM:300953
HP:0007360	Aplasia/Hypoplasia of the cerebellum	29957	SLC25A24	OMIM:612289
HP:0007360	Aplasia/Hypoplasia of the cerebellum	3839	KPNA3	OMIM:620106
HP:0007360	Aplasia/Hypoplasia of the cerebellum	92935	MARS2	ORPHA:314603
HP:0007360	Aplasia/Hypoplasia of the cerebellum	25914	RTTN	ORPHA:468631
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5162	PDHB	ORPHA:255138
HP:0007360	Aplasia/Hypoplasia of the cerebellum	6872	TAF1	OMIM:300966
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4841	NONO	OMIM:300967
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4841	NONO	ORPHA:466791
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5297	PI4KA	OMIM:616531
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5297	PI4KA	OMIM:619708
HP:0007360	Aplasia/Hypoplasia of the cerebellum	51124	IER3IP1	OMIM:614231
HP:0007360	Aplasia/Hypoplasia of the cerebellum	22983	MAST1	OMIM:618273
HP:0007360	Aplasia/Hypoplasia of the cerebellum	55640	FLVCR2	OMIM:225790
HP:0007360	Aplasia/Hypoplasia of the cerebellum	79042	TSEN34	ORPHA:2524
HP:0007360	Aplasia/Hypoplasia of the cerebellum	51091	SEPSECS	ORPHA:2524
HP:0007360	Aplasia/Hypoplasia of the cerebellum	202018	TAPT1	OMIM:616897
HP:0007360	Aplasia/Hypoplasia of the cerebellum	79867	TCTN2	OMIM:616654
HP:0007360	Aplasia/Hypoplasia of the cerebellum	57038	RARS2	OMIM:611523
HP:0007360	Aplasia/Hypoplasia of the cerebellum	55164	SHQ1	OMIM:619922
HP:0007360	Aplasia/Hypoplasia of the cerebellum	7291	TWIST1	OMIM:617746
HP:0007360	Aplasia/Hypoplasia of the cerebellum	100506658	OCLN	OMIM:251290
HP:0007360	Aplasia/Hypoplasia of the cerebellum	93587	TRMT10A	ORPHA:391408
HP:0007360	Aplasia/Hypoplasia of the cerebellum	84919	PPP1R15B	ORPHA:391408
HP:0007360	Aplasia/Hypoplasia of the cerebellum	60386	SLC25A19	OMIM:607196
HP:0007360	Aplasia/Hypoplasia of the cerebellum	259266	ASPM	OMIM:608716
HP:0007360	Aplasia/Hypoplasia of the cerebellum	153241	CEP120	OMIM:616300
HP:0007360	Aplasia/Hypoplasia of the cerebellum	23545	ATP6V0A2	ORPHA:357074
HP:0007360	Aplasia/Hypoplasia of the cerebellum	523	ATP6V1A	ORPHA:357074
HP:0007360	Aplasia/Hypoplasia of the cerebellum	529	ATP6V1E1	ORPHA:357074
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5879	RAC1	OMIM:617751
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5879	RAC1	ORPHA:500159
HP:0007360	Aplasia/Hypoplasia of the cerebellum	440	ASNS	OMIM:615574
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9731	CEP104	OMIM:616781
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9939	RBM8A	OMIM:274000
HP:0007360	Aplasia/Hypoplasia of the cerebellum	1719	DHFR	OMIM:613839
HP:0007360	Aplasia/Hypoplasia of the cerebellum	6496	SIX3	OMIM:157170
HP:0007360	Aplasia/Hypoplasia of the cerebellum	55074	OXR1	OMIM:213000
HP:0007360	Aplasia/Hypoplasia of the cerebellum	23299	BICD2	OMIM:618291
HP:0007360	Aplasia/Hypoplasia of the cerebellum	57647	DHX37	OMIM:618731
HP:0007360	Aplasia/Hypoplasia of the cerebellum	23404	EXOSC2	OMIM:617763
HP:0007360	Aplasia/Hypoplasia of the cerebellum	18	ABAT	OMIM:613163
HP:0007360	Aplasia/Hypoplasia of the cerebellum	1496	CTNNA2	OMIM:618174
HP:0007360	Aplasia/Hypoplasia of the cerebellum	79587	CARS2	OMIM:616672
HP:0007360	Aplasia/Hypoplasia of the cerebellum	7471	WNT1	OMIM:615220
HP:0007360	Aplasia/Hypoplasia of the cerebellum	498	ATP5F1A	OMIM:615228
HP:0007360	Aplasia/Hypoplasia of the cerebellum	27445	PCLO	OMIM:608027
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4208	MEF2C	ORPHA:228384
HP:0007360	Aplasia/Hypoplasia of the cerebellum	7020	TFAP2A	OMIM:113620
HP:0007360	Aplasia/Hypoplasia of the cerebellum	84342	COG8	OMIM:611182
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4598	MVK	OMIM:610377
HP:0007360	Aplasia/Hypoplasia of the cerebellum	3145	HMBS	OMIM:620704
HP:0007360	Aplasia/Hypoplasia of the cerebellum	23556	PIGN	ORPHA:280633
HP:0007360	Aplasia/Hypoplasia of the cerebellum	23007	PLCH1	OMIM:619895
HP:0007360	Aplasia/Hypoplasia of the cerebellum	25782	RAB3GAP2	ORPHA:401830
HP:0007360	Aplasia/Hypoplasia of the cerebellum	3769	KCNJ13	ORPHA:65
HP:0007360	Aplasia/Hypoplasia of the cerebellum	343035	RD3	ORPHA:65
HP:0007360	Aplasia/Hypoplasia of the cerebellum	145226	RDH12	ORPHA:65
HP:0007360	Aplasia/Hypoplasia of the cerebellum	1406	CRX	ORPHA:65
HP:0007360	Aplasia/Hypoplasia of the cerebellum	64802	NMNAT1	ORPHA:65
HP:0007360	Aplasia/Hypoplasia of the cerebellum	57096	RPGRIP1	ORPHA:65
HP:0007360	Aplasia/Hypoplasia of the cerebellum	80184	CEP290	ORPHA:65
HP:0007360	Aplasia/Hypoplasia of the cerebellum	80184	CEP290	OMIM:610188
HP:0007360	Aplasia/Hypoplasia of the cerebellum	80184	CEP290	OMIM:610189
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10383	TUBB4B	ORPHA:65
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9742	IFT140	ORPHA:65
HP:0007360	Aplasia/Hypoplasia of the cerebellum	85015	USP45	ORPHA:65
HP:0007360	Aplasia/Hypoplasia of the cerebellum	6121	RPE65	ORPHA:65
HP:0007360	Aplasia/Hypoplasia of the cerebellum	23418	CRB1	ORPHA:65
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5130	PCYT1A	ORPHA:65
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9657	IQCB1	ORPHA:65
HP:0007360	Aplasia/Hypoplasia of the cerebellum	392255	GDF6	ORPHA:65
HP:0007360	Aplasia/Hypoplasia of the cerebellum	23746	AIPL1	ORPHA:65
HP:0007360	Aplasia/Hypoplasia of the cerebellum	3000	GUCY2D	ORPHA:65
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9227	LRAT	ORPHA:65
HP:0007360	Aplasia/Hypoplasia of the cerebellum	55812	SPATA7	ORPHA:65
HP:0007360	Aplasia/Hypoplasia of the cerebellum	7287	TULP1	ORPHA:65
HP:0007360	Aplasia/Hypoplasia of the cerebellum	167691	LCA5	ORPHA:65
HP:0007360	Aplasia/Hypoplasia of the cerebellum	3614	IMPDH1	ORPHA:65
HP:0007360	Aplasia/Hypoplasia of the cerebellum	80055	PGAP1	ORPHA:401820
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4281	MID1	ORPHA:2745
HP:0007360	Aplasia/Hypoplasia of the cerebellum	95	ACY1	ORPHA:137754
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5518	PPP2R1A	ORPHA:457284
HP:0007360	Aplasia/Hypoplasia of the cerebellum	6311	ATXN2	ORPHA:98756
HP:0007360	Aplasia/Hypoplasia of the cerebellum	26173	INTS1	OMIM:618571
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4190	MDH1	OMIM:618959
HP:0007360	Aplasia/Hypoplasia of the cerebellum	50628	GEMIN4	OMIM:617913
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2911	GRM1	OMIM:614831
HP:0007360	Aplasia/Hypoplasia of the cerebellum	23476	BRD4	ORPHA:199
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9126	SMC3	ORPHA:199
HP:0007360	Aplasia/Hypoplasia of the cerebellum	8243	SMC1A	ORPHA:199
HP:0007360	Aplasia/Hypoplasia of the cerebellum	6878	TAF6	ORPHA:199
HP:0007360	Aplasia/Hypoplasia of the cerebellum	25836	NIPBL	ORPHA:199
HP:0007360	Aplasia/Hypoplasia of the cerebellum	55869	HDAC8	ORPHA:199
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5885	RAD21	ORPHA:199
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5396	PRRX1	ORPHA:990
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5015	OTX2	ORPHA:990
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5015	OTX2	ORPHA:3157
HP:0007360	Aplasia/Hypoplasia of the cerebellum	7399	USH2A	ORPHA:231178
HP:0007360	Aplasia/Hypoplasia of the cerebellum	79955	PDZD7	ORPHA:231178
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4647	MYO7A	ORPHA:231178
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4647	MYO7A	ORPHA:231169
HP:0007360	Aplasia/Hypoplasia of the cerebellum	25861	WHRN	ORPHA:231178
HP:0007360	Aplasia/Hypoplasia of the cerebellum	84059	ADGRV1	ORPHA:231178
HP:0007360	Aplasia/Hypoplasia of the cerebellum	27238	GPKOW	ORPHA:2570
HP:0007360	Aplasia/Hypoplasia of the cerebellum	6197	RPS6KA3	ORPHA:192
HP:0007360	Aplasia/Hypoplasia of the cerebellum	3265	HRAS	ORPHA:2612
HP:0007360	Aplasia/Hypoplasia of the cerebellum	3845	KRAS	ORPHA:2612
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4893	NRAS	ORPHA:2612
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5290	PIK3CA	ORPHA:60040
HP:0007360	Aplasia/Hypoplasia of the cerebellum	8239	USP9X	ORPHA:480880
HP:0007360	Aplasia/Hypoplasia of the cerebellum	11340	EXOSC8	ORPHA:2254
HP:0007360	Aplasia/Hypoplasia of the cerebellum	5393	EXOSC9	ORPHA:2254
HP:0007360	Aplasia/Hypoplasia of the cerebellum	23287	AGTPBP1	ORPHA:2254
HP:0007360	Aplasia/Hypoplasia of the cerebellum	51010	EXOSC3	ORPHA:2254
HP:0007360	Aplasia/Hypoplasia of the cerebellum	7443	VRK1	ORPHA:2254
HP:0007360	Aplasia/Hypoplasia of the cerebellum	91137	SLC25A46	ORPHA:2254
HP:0007360	Aplasia/Hypoplasia of the cerebellum	148789	B3GALNT2	ORPHA:588
HP:0007360	Aplasia/Hypoplasia of the cerebellum	29925	GMPPB	ORPHA:588
HP:0007360	Aplasia/Hypoplasia of the cerebellum	79147	FKRP	ORPHA:588
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9215	LARGE1	ORPHA:588
HP:0007360	Aplasia/Hypoplasia of the cerebellum	29954	POMT2	ORPHA:588
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2218	FKTN	ORPHA:588
HP:0007360	Aplasia/Hypoplasia of the cerebellum	729920	CRPPA	ORPHA:588
HP:0007360	Aplasia/Hypoplasia of the cerebellum	55624	POMGNT1	ORPHA:588
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10585	POMT1	ORPHA:588
HP:0007360	Aplasia/Hypoplasia of the cerebellum	8905	AP1S2	ORPHA:1568
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2737	GLI3	ORPHA:36
HP:0007360	Aplasia/Hypoplasia of the cerebellum	374654	KIF7	ORPHA:36
HP:0007360	Aplasia/Hypoplasia of the cerebellum	1654	DDX3X	ORPHA:3338
HP:0007360	Aplasia/Hypoplasia of the cerebellum	22858	CILK1	OMIM:612651
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9640	ZNF592	ORPHA:83472
HP:0007360	Aplasia/Hypoplasia of the cerebellum	84942	WDR73	ORPHA:83472
HP:0007360	Aplasia/Hypoplasia of the cerebellum	1717	DHCR7	ORPHA:818
HP:0007360	Aplasia/Hypoplasia of the cerebellum	55636	CHD7	ORPHA:138
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9723	SEMA3E	ORPHA:138
HP:0007360	Aplasia/Hypoplasia of the cerebellum	57231	SNX14	ORPHA:397709
HP:0007360	Aplasia/Hypoplasia of the cerebellum	23499	MACF1	ORPHA:572013
HP:0007360	Aplasia/Hypoplasia of the cerebellum	387119	CEP85L	ORPHA:572013
HP:0007360	Aplasia/Hypoplasia of the cerebellum	389827	MYMK	ORPHA:1358
HP:0007360	Aplasia/Hypoplasia of the cerebellum	101929726	MYMX	ORPHA:1358
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2261	FGFR3	ORPHA:93262
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2068	ERCC2	ORPHA:1466
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2067	ERCC1	ORPHA:1466
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2074	ERCC6	ORPHA:1466
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2073	ERCC5	ORPHA:1466
HP:0007360	Aplasia/Hypoplasia of the cerebellum	85378	TUBGCP6	ORPHA:2518
HP:0007360	Aplasia/Hypoplasia of the cerebellum	27229	TUBGCP4	ORPHA:2518
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10733	PLK4	ORPHA:2518
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4693	NDP	ORPHA:649
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2697	GJA1	ORPHA:2710
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9897	WASHC5	ORPHA:7
HP:0007360	Aplasia/Hypoplasia of the cerebellum	28952	CCDC22	ORPHA:7
HP:0007360	Aplasia/Hypoplasia of the cerebellum	57020	VPS35L	ORPHA:7
HP:0007360	Aplasia/Hypoplasia of the cerebellum	56896	DPYSL5	ORPHA:7
HP:0007360	Aplasia/Hypoplasia of the cerebellum	64072	CDH23	ORPHA:231169
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10083	USH1C	ORPHA:231169
HP:0007360	Aplasia/Hypoplasia of the cerebellum	124590	USH1G	ORPHA:231169
HP:0007360	Aplasia/Hypoplasia of the cerebellum	83715	ESPN	ORPHA:231169
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10518	CIB2	ORPHA:231169
HP:0007360	Aplasia/Hypoplasia of the cerebellum	65217	PCDH15	ORPHA:231169
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4524	MTHFR	ORPHA:563612
HP:0007360	Aplasia/Hypoplasia of the cerebellum	57216	VANGL2	ORPHA:563612
HP:0007360	Aplasia/Hypoplasia of the cerebellum	10815	CPLX1	ORPHA:280
HP:0007360	Aplasia/Hypoplasia of the cerebellum	54872	PIGG	ORPHA:280
HP:0007360	Aplasia/Hypoplasia of the cerebellum	7469	NELFA	ORPHA:280
HP:0007360	Aplasia/Hypoplasia of the cerebellum	1487	CTBP1	ORPHA:280
HP:0007360	Aplasia/Hypoplasia of the cerebellum	3954	LETM1	ORPHA:280
HP:0007360	Aplasia/Hypoplasia of the cerebellum	7468	NSD2	ORPHA:280
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9184	BUB3	ORPHA:1052
HP:0007360	Aplasia/Hypoplasia of the cerebellum	699	BUB1	ORPHA:1052
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9702	CEP57	ORPHA:1052
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9319	TRIP13	ORPHA:1052
HP:0007360	Aplasia/Hypoplasia of the cerebellum	701	BUB1B	ORPHA:1052
HP:0007360	Aplasia/Hypoplasia of the cerebellum	56623	INPP5E	ORPHA:1454
HP:0007360	Aplasia/Hypoplasia of the cerebellum	91147	TMEM67	ORPHA:1454
HP:0007360	Aplasia/Hypoplasia of the cerebellum	23322	RPGRIP1L	ORPHA:1454
HP:0007360	Aplasia/Hypoplasia of the cerebellum	57545	CC2D2A	ORPHA:1454
HP:0007360	Aplasia/Hypoplasia of the cerebellum	219285	SAMD9L	ORPHA:2585
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2260	FGFR1	ORPHA:3157
HP:0007360	Aplasia/Hypoplasia of the cerebellum	128674	PROKR2	ORPHA:3157
HP:0007360	Aplasia/Hypoplasia of the cerebellum	6657	SOX2	ORPHA:3157
HP:0007360	Aplasia/Hypoplasia of the cerebellum	6658	SOX3	ORPHA:3157
HP:0007360	Aplasia/Hypoplasia of the cerebellum	9915	ARNT2	ORPHA:3157
HP:0007360	Aplasia/Hypoplasia of the cerebellum	8820	HESX1	ORPHA:3157
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4001	LMNB1	ORPHA:99027
HP:0007360	Aplasia/Hypoplasia of the cerebellum	4668	NAGA	ORPHA:79279
HP:0007360	Aplasia/Hypoplasia of the cerebellum	79944	L2HGDH	ORPHA:79314
HP:0007360	Aplasia/Hypoplasia of the cerebellum	2019	EN1	OMIM:619218
HP:0007360	Aplasia/Hypoplasia of the cerebellum	51651	PTRH2	ORPHA:456312
HP:0007360	Aplasia/Hypoplasia of the cerebellum	63925	ZNF335	OMIM:615095
HP:0007361	Abnormal pons morphology	80184	CEP290	OMIM:610188
HP:0007361	Abnormal pons morphology	51259	TMEM216	OMIM:608091
HP:0007361	Abnormal pons morphology	91147	TMEM67	OMIM:610688
HP:0007361	Abnormal pons morphology	4867	NPHP1	OMIM:609583
HP:0007361	Abnormal pons morphology	79042	TSEN34	ORPHA:2524
HP:0007361	Abnormal pons morphology	80746	TSEN2	ORPHA:2524
HP:0007361	Abnormal pons morphology	51091	SEPSECS	ORPHA:2524
HP:0007361	Abnormal pons morphology	6095	RORA	OMIM:618060
HP:0007361	Abnormal pons morphology	1213	CLTC	OMIM:617854
HP:0007361	Abnormal pons morphology	79152	FA2H	ORPHA:171629
HP:0007361	Abnormal pons morphology	54973	INTS11	OMIM:620428
HP:0007361	Abnormal pons morphology	27183	VPS4A	OMIM:619273
HP:0007361	Abnormal pons morphology	8813	DPM1	OMIM:608799
HP:0007361	Abnormal pons morphology	8813	DPM1	ORPHA:79322
HP:0007361	Abnormal pons morphology	23064	SETX	OMIM:606002
HP:0007361	Abnormal pons morphology	440193	CCDC88C	OMIM:616053
HP:0007361	Abnormal pons morphology	440193	CCDC88C	ORPHA:423275
HP:0007361	Abnormal pons morphology	3908	LAMA2	ORPHA:258
HP:0007361	Abnormal pons morphology	5518	PPP2R1A	ORPHA:457284
HP:0007361	Abnormal pons morphology	6311	ATXN2	ORPHA:98756
HP:0007361	Abnormal pons morphology	5373	PMM2	OMIM:212065
HP:0007361	Abnormal pons morphology	29925	GMPPB	ORPHA:370968
HP:0007361	Abnormal pons morphology	79147	FKRP	ORPHA:370968
HP:0007361	Abnormal pons morphology	29954	POMT2	ORPHA:370968
HP:0007361	Abnormal pons morphology	9215	LARGE1	ORPHA:370968
HP:0007361	Abnormal pons morphology	10585	POMT1	ORPHA:370968
HP:0007361	Abnormal pons morphology	26278	SACS	ORPHA:98
HP:0007361	Abnormal pons morphology	5277	PIGA	OMIM:300868
HP:0007361	Abnormal pons morphology	2581	GALC	ORPHA:206448
HP:0007361	Abnormal pons morphology	1605	DAG1	ORPHA:370997
HP:0007361	Abnormal pons morphology	3417	IDH1	ORPHA:99646
HP:0007361	Abnormal pons morphology	2313	FLI1	ORPHA:370348
HP:0007361	Abnormal pons morphology	54806	AHI1	OMIM:608629
HP:0007361	Abnormal pons morphology	79848	CSPP1	ORPHA:397715
HP:0007361	Abnormal pons morphology	79848	CSPP1	OMIM:615636
HP:0007361	Abnormal pons morphology	9786	KIAA0586	ORPHA:397715
HP:0007361	Abnormal pons morphology	403	ARL3	OMIM:618161
HP:0007361	Abnormal pons morphology	284217	LAMA1	ORPHA:370022
HP:0007361	Abnormal pons morphology	56623	INPP5E	OMIM:213300
HP:0007361	Abnormal pons morphology	1182	CLCN3	OMIM:619512
HP:0007361	Abnormal pons morphology	55773	TBC1D23	OMIM:617695
HP:0007361	Abnormal pons morphology	94005	PIGS	OMIM:618143
HP:0007361	Abnormal pons morphology	9681	DEPDC5	OMIM:620504
HP:0007361	Abnormal pons morphology	2972	BRF1	OMIM:616202
HP:0007361	Abnormal pons morphology	2972	BRF1	ORPHA:444072
HP:0007361	Abnormal pons morphology	8573	CASK	OMIM:300749
HP:0007361	Abnormal pons morphology	8573	CASK	ORPHA:163937
HP:0007361	Abnormal pons morphology	11340	EXOSC8	ORPHA:2254
HP:0007361	Abnormal pons morphology	5393	EXOSC9	ORPHA:2254
HP:0007361	Abnormal pons morphology	23287	AGTPBP1	ORPHA:2254
HP:0007361	Abnormal pons morphology	23287	AGTPBP1	OMIM:618276
HP:0007361	Abnormal pons morphology	51010	EXOSC3	ORPHA:2254
HP:0007361	Abnormal pons morphology	7443	VRK1	ORPHA:2254
HP:0007361	Abnormal pons morphology	7443	VRK1	OMIM:620542
HP:0007361	Abnormal pons morphology	7443	VRK1	OMIM:607596
HP:0007361	Abnormal pons morphology	91137	SLC25A46	ORPHA:2254
HP:0007361	Abnormal pons morphology	91137	SLC25A46	OMIM:619303
HP:0007361	Abnormal pons morphology	6091	ROBO1	OMIM:620305
HP:0007361	Abnormal pons morphology	85440	DOCK7	ORPHA:411986
HP:0007361	Abnormal pons morphology	85440	DOCK7	OMIM:615859
HP:0007361	Abnormal pons morphology	25914	RTTN	ORPHA:468631
HP:0007361	Abnormal pons morphology	5649	RELN	OMIM:257320
HP:0007361	Abnormal pons morphology	23126	POGZ	ORPHA:468678
HP:0007361	Abnormal pons morphology	9289	ADGRG1	ORPHA:101070
HP:0007361	Abnormal pons morphology	9289	ADGRG1	OMIM:606854
HP:0007361	Abnormal pons morphology	5728	PTEN	ORPHA:101070
HP:0007361	Abnormal pons morphology	724066	ATXN8	ORPHA:98760
HP:0007361	Abnormal pons morphology	6315	ATXN8OS	ORPHA:98760
HP:0007361	Abnormal pons morphology	84197	POMK	ORPHA:370959
HP:0007361	Abnormal pons morphology	55624	POMGNT1	ORPHA:370959
HP:0007361	Abnormal pons morphology	55624	POMGNT1	OMIM:613151
HP:0007361	Abnormal pons morphology	10733	PLK4	OMIM:616171
HP:0007361	Abnormal pons morphology	51112	TRAPPC12	ORPHA:500144
HP:0007361	Abnormal pons morphology	51112	TRAPPC12	OMIM:617669
HP:0007361	Abnormal pons morphology	283989	TSEN54	OMIM:225753
HP:0007361	Abnormal pons morphology	283989	TSEN54	OMIM:277470
HP:0007361	Abnormal pons morphology	116461	TSEN15	OMIM:617026
HP:0007361	Abnormal pons morphology	1630	DCC	OMIM:617542
HP:0007361	Abnormal pons morphology	28514	DLL1	ORPHA:280195
HP:0007361	Abnormal pons morphology	2253	FGF8	ORPHA:280195
HP:0007361	Abnormal pons morphology	6496	SIX3	ORPHA:280195
HP:0007361	Abnormal pons morphology	7050	TGIF1	ORPHA:280195
HP:0007361	Abnormal pons morphology	4838	NODAL	ORPHA:280195
HP:0007361	Abnormal pons morphology	6469	SHH	ORPHA:280195
HP:0007361	Abnormal pons morphology	7546	ZIC2	ORPHA:280195
HP:0007361	Abnormal pons morphology	6491	STIL	ORPHA:280195
HP:0007361	Abnormal pons morphology	2619	GAS1	ORPHA:280195
HP:0007361	Abnormal pons morphology	84976	DISP1	ORPHA:280195
HP:0007361	Abnormal pons morphology	2736	GLI2	ORPHA:280195
HP:0007361	Abnormal pons morphology	8928	FOXH1	ORPHA:280195
HP:0007361	Abnormal pons morphology	6997	CRIPTO	ORPHA:280195
HP:0007361	Abnormal pons morphology	5727	PTCH1	ORPHA:280195
HP:0007361	Abnormal pons morphology	50937	CDON	ORPHA:280195
HP:0007361	Abnormal pons morphology	473	RERE	OMIM:616975
HP:0007361	Abnormal pons morphology	4190	MDH1	OMIM:618959
HP:0007361	Abnormal pons morphology	10297	APC2	OMIM:618677
HP:0007361	Abnormal pons morphology	4081	MAB21L1	OMIM:618479
HP:0007361	Abnormal pons morphology	4081	MAB21L1	ORPHA:495875
HP:0007361	Abnormal pons morphology	9562	MINPP1	OMIM:619527
HP:0007361	Abnormal pons morphology	29072	SETD2	OMIM:620157
HP:0007361	Abnormal pons morphology	29072	SETD2	OMIM:620155
HP:0007361	Abnormal pons morphology	64221	ROBO3	OMIM:607313
HP:0007361	Abnormal pons morphology	271	AMPD2	OMIM:615809
HP:0007361	Abnormal pons morphology	57231	SNX14	ORPHA:397709
HP:0007361	Abnormal pons morphology	6595	SMARCA2	OMIM:619293
HP:0007361	Abnormal pons morphology	347733	TUBB2B	ORPHA:467166
HP:0007361	Abnormal pons morphology	347733	TUBB2B	ORPHA:300573
HP:0007361	Abnormal pons morphology	7846	TUBA1A	ORPHA:467166
HP:0007361	Abnormal pons morphology	10381	TUBB3	ORPHA:467166
HP:0007361	Abnormal pons morphology	440	ASNS	OMIM:615574
HP:0007361	Abnormal pons morphology	10273	STUB1	ORPHA:412057
HP:0007361	Abnormal pons morphology	738	VPS51	OMIM:618606
HP:0007361	Abnormal pons morphology	23499	MACF1	OMIM:618325
HP:0007361	Abnormal pons morphology	9439	MED23	OMIM:614249
HP:0007361	Abnormal pons morphology	114034	TOE1	OMIM:614969
HP:0007361	Abnormal pons morphology	10195	ALG3	ORPHA:79321
HP:0007361	Abnormal pons morphology	148789	B3GALNT2	OMIM:615181
HP:0007361	Abnormal pons morphology	191	AHCY	ORPHA:88618
HP:0007361	Abnormal pons morphology	51645	PPIL1	OMIM:619301
HP:0007361	Abnormal pons morphology	8884	SLC5A6	OMIM:618973
HP:0007361	Abnormal pons morphology	92935	MARS2	OMIM:616430
HP:0007361	Abnormal pons morphology	7471	WNT1	OMIM:615220
HP:0007361	Abnormal pons morphology	7545	ZIC1	OMIM:618736
HP:0007361	Abnormal pons morphology	10243	GPHN	OMIM:615501
HP:0007361	Abnormal pons morphology	9181	ARHGEF2	OMIM:617523
HP:0007361	Abnormal pons morphology	51013	EXOSC1	OMIM:619304
HP:0007361	Abnormal pons morphology	7319	UBE2A	ORPHA:163956
HP:0007361	Abnormal pons morphology	57724	EPG5	ORPHA:1493
HP:0007361	Abnormal pons morphology	55361	PI4K2A	OMIM:620732
HP:0007361	Abnormal pons morphology	27445	PCLO	OMIM:608027
HP:0007361	Abnormal pons morphology	1974	EIF4A2	OMIM:620455
HP:0007361	Abnormal pons morphology	5297	PI4KA	OMIM:619708
HP:0007361	Abnormal pons morphology	59336	PRDM13	OMIM:619909
HP:0007361	Abnormal pons morphology	2495	FTH1	OMIM:620669
HP:0007362	Aplasia/Hypoplasia of the brainstem	11113	CIT	OMIM:617090
HP:0007362	Aplasia/Hypoplasia of the brainstem	3912	LAMB1	OMIM:615191
HP:0007362	Aplasia/Hypoplasia of the brainstem	3912	LAMB1	ORPHA:352682
HP:0007362	Aplasia/Hypoplasia of the brainstem	1281	COL3A1	OMIM:618343
HP:0007362	Aplasia/Hypoplasia of the brainstem	1859	DYRK1A	ORPHA:268261
HP:0007362	Aplasia/Hypoplasia of the brainstem	160418	TMTC3	OMIM:617255
HP:0007362	Aplasia/Hypoplasia of the brainstem	26128	KIFBP	OMIM:609460
HP:0007362	Aplasia/Hypoplasia of the brainstem	8573	CASK	OMIM:300749
HP:0007362	Aplasia/Hypoplasia of the brainstem	79848	CSPP1	OMIM:615636
HP:0007362	Aplasia/Hypoplasia of the brainstem	55627	SMPD4	OMIM:618622
HP:0007362	Aplasia/Hypoplasia of the brainstem	51807	TUBA8	ORPHA:250972
HP:0007362	Aplasia/Hypoplasia of the brainstem	65062	TMEM237	OMIM:614424
HP:0007362	Aplasia/Hypoplasia of the brainstem	55624	POMGNT1	OMIM:253280
HP:0007362	Aplasia/Hypoplasia of the brainstem	55624	POMGNT1	ORPHA:370959
HP:0007362	Aplasia/Hypoplasia of the brainstem	51259	TMEM216	OMIM:608091
HP:0007362	Aplasia/Hypoplasia of the brainstem	56623	INPP5E	OMIM:213300
HP:0007362	Aplasia/Hypoplasia of the brainstem	84942	WDR73	OMIM:251300
HP:0007362	Aplasia/Hypoplasia of the brainstem	2972	BRF1	ORPHA:444072
HP:0007362	Aplasia/Hypoplasia of the brainstem	5515	PPP2CA	OMIM:618354
HP:0007362	Aplasia/Hypoplasia of the brainstem	283989	TSEN54	OMIM:225753
HP:0007362	Aplasia/Hypoplasia of the brainstem	283989	TSEN54	ORPHA:166063
HP:0007362	Aplasia/Hypoplasia of the brainstem	283989	TSEN54	ORPHA:2524
HP:0007362	Aplasia/Hypoplasia of the brainstem	84162	BLTP1	OMIM:617822
HP:0007362	Aplasia/Hypoplasia of the brainstem	23322	RPGRIP1L	OMIM:611560
HP:0007362	Aplasia/Hypoplasia of the brainstem	4552	MTRR	ORPHA:2169
HP:0007362	Aplasia/Hypoplasia of the brainstem	7280	TUBB2A	OMIM:615763
HP:0007362	Aplasia/Hypoplasia of the brainstem	84197	POMK	OMIM:615249
HP:0007362	Aplasia/Hypoplasia of the brainstem	84197	POMK	ORPHA:370959
HP:0007362	Aplasia/Hypoplasia of the brainstem	10381	TUBB3	OMIM:614039
HP:0007362	Aplasia/Hypoplasia of the brainstem	10381	TUBB3	ORPHA:300570
HP:0007362	Aplasia/Hypoplasia of the brainstem	5048	PAFAH1B1	OMIM:607432
HP:0007362	Aplasia/Hypoplasia of the brainstem	54820	NDE1	OMIM:605013
HP:0007362	Aplasia/Hypoplasia of the brainstem	7846	TUBA1A	OMIM:611603
HP:0007362	Aplasia/Hypoplasia of the brainstem	7846	TUBA1A	ORPHA:171680
HP:0007362	Aplasia/Hypoplasia of the brainstem	29954	POMT2	OMIM:236670
HP:0007362	Aplasia/Hypoplasia of the brainstem	29954	POMT2	ORPHA:370959
HP:0007362	Aplasia/Hypoplasia of the brainstem	29954	POMT2	OMIM:613150
HP:0007362	Aplasia/Hypoplasia of the brainstem	79147	FKRP	OMIM:236670
HP:0007362	Aplasia/Hypoplasia of the brainstem	79147	FKRP	ORPHA:370959
HP:0007362	Aplasia/Hypoplasia of the brainstem	79147	FKRP	OMIM:613153
HP:0007362	Aplasia/Hypoplasia of the brainstem	2218	FKTN	OMIM:236670
HP:0007362	Aplasia/Hypoplasia of the brainstem	2218	FKTN	OMIM:253800
HP:0007362	Aplasia/Hypoplasia of the brainstem	10585	POMT1	OMIM:236670
HP:0007362	Aplasia/Hypoplasia of the brainstem	10585	POMT1	ORPHA:370959
HP:0007362	Aplasia/Hypoplasia of the brainstem	10585	POMT1	OMIM:613155
HP:0007362	Aplasia/Hypoplasia of the brainstem	9215	LARGE1	OMIM:236670
HP:0007362	Aplasia/Hypoplasia of the brainstem	9215	LARGE1	OMIM:608840
HP:0007362	Aplasia/Hypoplasia of the brainstem	9289	ADGRG1	OMIM:606854
HP:0007362	Aplasia/Hypoplasia of the brainstem	9289	ADGRG1	ORPHA:101070
HP:0007362	Aplasia/Hypoplasia of the brainstem	4621	MYH3	OMIM:193700
HP:0007362	Aplasia/Hypoplasia of the brainstem	203068	TUBB	OMIM:615771
HP:0007362	Aplasia/Hypoplasia of the brainstem	5119	CHMP1A	OMIM:614961
HP:0007362	Aplasia/Hypoplasia of the brainstem	1778	DYNC1H1	OMIM:614563
HP:0007362	Aplasia/Hypoplasia of the brainstem	7436	VLDLR	OMIM:224050
HP:0007362	Aplasia/Hypoplasia of the brainstem	80746	TSEN2	OMIM:612389
HP:0007362	Aplasia/Hypoplasia of the brainstem	80746	TSEN2	ORPHA:2524
HP:0007362	Aplasia/Hypoplasia of the brainstem	2019	EN1	OMIM:619218
HP:0007362	Aplasia/Hypoplasia of the brainstem	29920	PYCR2	ORPHA:481152
HP:0007362	Aplasia/Hypoplasia of the brainstem	29920	PYCR2	OMIM:616420
HP:0007362	Aplasia/Hypoplasia of the brainstem	114034	TOE1	OMIM:614969
HP:0007362	Aplasia/Hypoplasia of the brainstem	114034	TOE1	ORPHA:284339
HP:0007362	Aplasia/Hypoplasia of the brainstem	1781	DYNC1I2	OMIM:618492
HP:0007362	Aplasia/Hypoplasia of the brainstem	10352	WARS2	ORPHA:572798
HP:0007362	Aplasia/Hypoplasia of the brainstem	55361	PI4K2A	OMIM:620732
HP:0007362	Aplasia/Hypoplasia of the brainstem	59336	PRDM13	OMIM:619909
HP:0007362	Aplasia/Hypoplasia of the brainstem	23265	EXOC7	OMIM:619072
HP:0007362	Aplasia/Hypoplasia of the brainstem	80347	COASY	OMIM:618266
HP:0007362	Aplasia/Hypoplasia of the brainstem	84879	MFSD2A	OMIM:616486
HP:0007362	Aplasia/Hypoplasia of the brainstem	23126	POGZ	OMIM:616364
HP:0007362	Aplasia/Hypoplasia of the brainstem	8239	USP9X	ORPHA:480880
HP:0007362	Aplasia/Hypoplasia of the brainstem	3839	KPNA3	OMIM:620106
HP:0007362	Aplasia/Hypoplasia of the brainstem	4784	NFIX	ORPHA:420179
HP:0007362	Aplasia/Hypoplasia of the brainstem	55165	CEP55	OMIM:236500
HP:0007362	Aplasia/Hypoplasia of the brainstem	5728	PTEN	ORPHA:101070
HP:0007362	Aplasia/Hypoplasia of the brainstem	5727	PTCH1	OMIM:610828
HP:0007362	Aplasia/Hypoplasia of the brainstem	29925	GMPPB	ORPHA:370959
HP:0007362	Aplasia/Hypoplasia of the brainstem	5162	PDHB	ORPHA:255138
HP:0007362	Aplasia/Hypoplasia of the brainstem	11041	B4GAT1	OMIM:615287
HP:0007362	Aplasia/Hypoplasia of the brainstem	22983	MAST1	OMIM:618273
HP:0007362	Aplasia/Hypoplasia of the brainstem	55640	FLVCR2	OMIM:225790
HP:0007362	Aplasia/Hypoplasia of the brainstem	116461	TSEN15	ORPHA:2524
HP:0007362	Aplasia/Hypoplasia of the brainstem	79042	TSEN34	ORPHA:2524
HP:0007362	Aplasia/Hypoplasia of the brainstem	51091	SEPSECS	ORPHA:2524
HP:0007362	Aplasia/Hypoplasia of the brainstem	347733	TUBB2B	OMIM:610031
HP:0007362	Aplasia/Hypoplasia of the brainstem	10297	APC2	OMIM:618677
HP:0007362	Aplasia/Hypoplasia of the brainstem	9440	MED17	OMIM:613668
HP:0007362	Aplasia/Hypoplasia of the brainstem	84919	PPP1R15B	OMIM:616817
HP:0007362	Aplasia/Hypoplasia of the brainstem	84919	PPP1R15B	ORPHA:391408
HP:0007362	Aplasia/Hypoplasia of the brainstem	93587	TRMT10A	ORPHA:391408
HP:0007362	Aplasia/Hypoplasia of the brainstem	2271	FH	OMIM:606812
HP:0007362	Aplasia/Hypoplasia of the brainstem	63895	PIEZO2	OMIM:248700
HP:0007362	Aplasia/Hypoplasia of the brainstem	5879	RAC1	OMIM:617751
HP:0007362	Aplasia/Hypoplasia of the brainstem	5879	RAC1	ORPHA:500159
HP:0007362	Aplasia/Hypoplasia of the brainstem	440	ASNS	OMIM:615574
HP:0007362	Aplasia/Hypoplasia of the brainstem	111	ADCY5	OMIM:619651
HP:0007362	Aplasia/Hypoplasia of the brainstem	9786	KIAA0586	OMIM:616546
HP:0007362	Aplasia/Hypoplasia of the brainstem	729920	CRPPA	OMIM:614643
HP:0007362	Aplasia/Hypoplasia of the brainstem	23499	MACF1	OMIM:618325
HP:0007362	Aplasia/Hypoplasia of the brainstem	91147	TMEM67	OMIM:610688
HP:0007362	Aplasia/Hypoplasia of the brainstem	84081	NSRP1	OMIM:620001
HP:0007362	Aplasia/Hypoplasia of the brainstem	148789	B3GALNT2	OMIM:615181
HP:0007362	Aplasia/Hypoplasia of the brainstem	9562	MINPP1	ORPHA:284339
HP:0007362	Aplasia/Hypoplasia of the brainstem	171023	ASXL1	OMIM:605039
HP:0007362	Aplasia/Hypoplasia of the brainstem	51645	PPIL1	OMIM:619301
HP:0007362	Aplasia/Hypoplasia of the brainstem	51362	CDC40	OMIM:619302
HP:0007362	Aplasia/Hypoplasia of the brainstem	51075	TMX2	OMIM:618730
HP:0007362	Aplasia/Hypoplasia of the brainstem	1496	CTNNA2	OMIM:618174
HP:0007362	Aplasia/Hypoplasia of the brainstem	55770	EXOC2	OMIM:619306
HP:0007362	Aplasia/Hypoplasia of the brainstem	27445	PCLO	OMIM:608027
HP:0007362	Aplasia/Hypoplasia of the brainstem	9230	RAB11B	OMIM:617807
HP:0007362	Aplasia/Hypoplasia of the brainstem	389827	MYMK	OMIM:254940
HP:0007363	Aplasia/Hypoplasia of the pyramidal tract	2218	FKTN	OMIM:253800
HP:0007363	Aplasia/Hypoplasia of the pyramidal tract	477	ATP1A2	OMIM:619602
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1718	DHCR24	OMIM:602398
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1718	DHCR24	ORPHA:35107
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4524	MTHFR	ORPHA:395
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4524	MTHFR	OMIM:236250
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23394	ADNP	ORPHA:404448
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51399	TRAPPC4	OMIM:618741
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1139	CHRNA7	ORPHA:199318
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51569	UFM1	OMIM:617899
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10059	DNM1L	OMIM:614388
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6228	RPS23	OMIM:617412
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7360	UGP2	OMIM:618744
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5932	RBBP8	OMIM:606744
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5932	RBBP8	ORPHA:808
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2073	ERCC5	OMIM:616570
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2073	ERCC5	ORPHA:1466
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2073	ERCC5	ORPHA:220295
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2073	ERCC5	OMIM:278780
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2073	ERCC5	ORPHA:910
HP:0007364	Aplasia/Hypoplasia of the cerebrum	283489	CHAMP1	OMIM:616579
HP:0007364	Aplasia/Hypoplasia of the cerebrum	478	ATP1A3	OMIM:619606
HP:0007364	Aplasia/Hypoplasia of the cerebrum	478	ATP1A3	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2137	EXTL3	OMIM:617425
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2137	EXTL3	ORPHA:508533
HP:0007364	Aplasia/Hypoplasia of the cerebrum	166378	AFG2A	OMIM:616577
HP:0007364	Aplasia/Hypoplasia of the cerebrum	166378	AFG2A	ORPHA:457351
HP:0007364	Aplasia/Hypoplasia of the cerebrum	477	ATP1A2	OMIM:619602
HP:0007364	Aplasia/Hypoplasia of the cerebrum	477	ATP1A2	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84197	POMK	OMIM:615249
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84197	POMK	ORPHA:370959
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84197	POMK	ORPHA:899
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9968	MED12	ORPHA:2728
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84520	GON7	OMIM:619603
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84520	GON7	ORPHA:2065
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1161	ERCC8	OMIM:216400
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79693	YRDC	OMIM:619609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79693	YRDC	ORPHA:2065
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5832	ALDH18A1	OMIM:616586
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5832	ALDH18A1	ORPHA:90348
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5832	ALDH18A1	ORPHA:447760
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5832	ALDH18A1	OMIM:616603
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6884	TAF13	OMIM:617432
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6884	TAF13	ORPHA:2512
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79029	AFG2B	OMIM:619616
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10111	RAD50	OMIM:613078
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55681	SCYL2	OMIM:618766
HP:0007364	Aplasia/Hypoplasia of the cerebrum	85465	SELENOI	OMIM:618768
HP:0007364	Aplasia/Hypoplasia of the cerebrum	85465	SELENOI	ORPHA:506353
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5191	PEX7	OMIM:215100
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3339	HSPG2	ORPHA:1865
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3339	HSPG2	OMIM:224410
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3339	HSPG2	ORPHA:800
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3339	HSPG2	ORPHA:1606
HP:0007364	Aplasia/Hypoplasia of the cerebrum	171023	ASXL1	ORPHA:97297
HP:0007364	Aplasia/Hypoplasia of the cerebrum	171023	ASXL1	OMIM:605039
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5813	PURA	ORPHA:438216
HP:0007364	Aplasia/Hypoplasia of the cerebrum	89910	UBE3B	ORPHA:2707
HP:0007364	Aplasia/Hypoplasia of the cerebrum	89910	UBE3B	OMIM:244450
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4247	MGAT2	OMIM:212066
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5373	PMM2	OMIM:212065
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1499	CTNNB1	ORPHA:404473
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1499	CTNNB1	ORPHA:891
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55131	RBM28	ORPHA:157954
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55131	RBM28	OMIM:612079
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2072	ERCC4	OMIM:615272
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2072	ERCC4	ORPHA:84
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2072	ERCC4	ORPHA:220295
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2072	ERCC4	OMIM:610965
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2072	ERCC4	ORPHA:910
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2072	ERCC4	OMIM:278760
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55768	NGLY1	OMIM:615273
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55621	TRMT1	OMIM:618302
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6905	TBCE	OMIM:241410
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6905	TBCE	ORPHA:2323
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6905	TBCE	ORPHA:93324
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51633	OTUD6B	OMIM:617452
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51633	OTUD6B	ORPHA:505237
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9289	ADGRG1	ORPHA:101070
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9289	ADGRG1	ORPHA:98889
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5728	PTEN	ORPHA:101070
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5728	PTEN	ORPHA:397596
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5727	PTCH1	OMIM:610828
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5727	PTCH1	ORPHA:280195
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5727	PTCH1	ORPHA:220386
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5727	PTCH1	ORPHA:280200
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5727	PTCH1	ORPHA:93926
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5727	PTCH1	ORPHA:93924
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5727	PTCH1	ORPHA:93925
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2736	GLI2	OMIM:610829
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2736	GLI2	ORPHA:280195
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2736	GLI2	ORPHA:220386
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2736	GLI2	ORPHA:280200
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2736	GLI2	ORPHA:93926
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2736	GLI2	ORPHA:93924
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2736	GLI2	ORPHA:93925
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79718	TBL1XR1	OMIM:602342
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54828	BCAS3	OMIM:619641
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6305	SBF1	OMIM:615284
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3800	KIF5C	OMIM:615282
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2232	FDXR	ORPHA:543470
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7358	UGDH	OMIM:618792
HP:0007364	Aplasia/Hypoplasia of the cerebrum	113179	ADAT3	OMIM:615286
HP:0007364	Aplasia/Hypoplasia of the cerebrum	113179	ADAT3	ORPHA:363528
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2904	GRIN2B	OMIM:616139
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2904	GRIN2B	OMIM:613970
HP:0007364	Aplasia/Hypoplasia of the cerebrum	200424	TET3	OMIM:618798
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79971	WLS	OMIM:619648
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79728	PALB2	OMIM:610832
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79728	PALB2	ORPHA:84
HP:0007364	Aplasia/Hypoplasia of the cerebrum	56975	FAM20C	ORPHA:1832
HP:0007364	Aplasia/Hypoplasia of the cerebrum	56975	FAM20C	OMIM:259775
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5917	RARS1	OMIM:616140
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5917	RARS1	ORPHA:438114
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54916	TMEM260	OMIM:617478
HP:0007364	Aplasia/Hypoplasia of the cerebrum	25836	NIPBL	OMIM:122470
HP:0007364	Aplasia/Hypoplasia of the cerebrum	25836	NIPBL	ORPHA:199
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23499	MACF1	OMIM:618325
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4733	DRG1	OMIM:620641
HP:0007364	Aplasia/Hypoplasia of the cerebrum	100151683	RNU4ATAC	ORPHA:1824
HP:0007364	Aplasia/Hypoplasia of the cerebrum	100151683	RNU4ATAC	ORPHA:353298
HP:0007364	Aplasia/Hypoplasia of the cerebrum	100151683	RNU4ATAC	OMIM:226960
HP:0007364	Aplasia/Hypoplasia of the cerebrum	100151683	RNU4ATAC	OMIM:210710
HP:0007364	Aplasia/Hypoplasia of the cerebrum	100151683	RNU4ATAC	OMIM:616651
HP:0007364	Aplasia/Hypoplasia of the cerebrum	100151683	RNU4ATAC	ORPHA:2636
HP:0007364	Aplasia/Hypoplasia of the cerebrum	58497	PRUNE1	OMIM:617481
HP:0007364	Aplasia/Hypoplasia of the cerebrum	58497	PRUNE1	ORPHA:544469
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84188	FAR1	OMIM:616154
HP:0007364	Aplasia/Hypoplasia of the cerebrum	120	ADD3	OMIM:617008
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5426	POLE	OMIM:618336
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5910	RAP1GDS1	OMIM:620655
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7873	MANF	OMIM:620651
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3480	IGF1R	ORPHA:73273
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3480	IGF1R	OMIM:270450
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3479	IGF1	ORPHA:73272
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3479	IGF1	OMIM:608747
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2074	ERCC6	OMIM:133540
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2074	ERCC6	ORPHA:1466
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2074	ERCC6	OMIM:214150
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2074	ERCC6	OMIM:278800
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3155	HMGCL	ORPHA:20
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3155	HMGCL	OMIM:246450
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2775	GNAO1	OMIM:617493
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2775	GNAO1	ORPHA:1934
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10785	WDR4	OMIM:618346
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10785	WDR4	OMIM:618347
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10785	WDR4	ORPHA:2065
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4598	MVK	ORPHA:29
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4598	MVK	OMIM:610377
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23516	SLC39A14	OMIM:617013
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54517	PUS7	OMIM:618342
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10564	ARFGEF2	OMIM:608097
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2495	FTH1	OMIM:620669
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8573	CASK	OMIM:300749
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8573	CASK	ORPHA:1934
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8573	CASK	ORPHA:163937
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1798	DPAGT1	OMIM:608093
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1798	DPAGT1	ORPHA:86309
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57122	NUP107	OMIM:618348
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57122	NUP107	ORPHA:243
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57122	NUP107	ORPHA:2065
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55746	NUP133	OMIM:618349
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55746	NUP133	ORPHA:2065
HP:0007364	Aplasia/Hypoplasia of the cerebrum	56623	INPP5E	OMIM:213300
HP:0007364	Aplasia/Hypoplasia of the cerebrum	56945	MRPS22	OMIM:611719
HP:0007364	Aplasia/Hypoplasia of the cerebrum	56945	MRPS22	ORPHA:243
HP:0007364	Aplasia/Hypoplasia of the cerebrum	27125	AFF4	ORPHA:444077
HP:0007364	Aplasia/Hypoplasia of the cerebrum	27125	AFF4	OMIM:616368
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5575	PRKAR1B	OMIM:619680
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10733	PLK4	OMIM:616171
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10733	PLK4	ORPHA:808
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10733	PLK4	ORPHA:2518
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2972	BRF1	ORPHA:444072
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2972	BRF1	OMIM:616202
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5515	PPP2CA	OMIM:618354
HP:0007364	Aplasia/Hypoplasia of the cerebrum	11277	TREX1	OMIM:225750
HP:0007364	Aplasia/Hypoplasia of the cerebrum	11277	TREX1	ORPHA:51
HP:0007364	Aplasia/Hypoplasia of the cerebrum	283989	TSEN54	OMIM:225753
HP:0007364	Aplasia/Hypoplasia of the cerebrum	283989	TSEN54	OMIM:610204
HP:0007364	Aplasia/Hypoplasia of the cerebrum	283989	TSEN54	OMIM:277470
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23114	NFASC	OMIM:618356
HP:0007364	Aplasia/Hypoplasia of the cerebrum	154881	KCTD7	OMIM:611726
HP:0007364	Aplasia/Hypoplasia of the cerebrum	154881	KCTD7	ORPHA:263516
HP:0007364	Aplasia/Hypoplasia of the cerebrum	29925	GMPPB	ORPHA:370968
HP:0007364	Aplasia/Hypoplasia of the cerebrum	29925	GMPPB	ORPHA:370959
HP:0007364	Aplasia/Hypoplasia of the cerebrum	29925	GMPPB	ORPHA:363623
HP:0007364	Aplasia/Hypoplasia of the cerebrum	29925	GMPPB	OMIM:615350
HP:0007364	Aplasia/Hypoplasia of the cerebrum	29925	GMPPB	OMIM:615351
HP:0007364	Aplasia/Hypoplasia of the cerebrum	29925	GMPPB	OMIM:615352
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79147	FKRP	ORPHA:370968
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79147	FKRP	ORPHA:370980
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79147	FKRP	ORPHA:370959
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79147	FKRP	OMIM:606612
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79147	FKRP	OMIM:236670
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79147	FKRP	ORPHA:899
HP:0007364	Aplasia/Hypoplasia of the cerebrum	29954	POMT2	ORPHA:370968
HP:0007364	Aplasia/Hypoplasia of the cerebrum	29954	POMT2	ORPHA:370959
HP:0007364	Aplasia/Hypoplasia of the cerebrum	29954	POMT2	OMIM:236670
HP:0007364	Aplasia/Hypoplasia of the cerebrum	29954	POMT2	ORPHA:899
HP:0007364	Aplasia/Hypoplasia of the cerebrum	29954	POMT2	OMIM:613150
HP:0007364	Aplasia/Hypoplasia of the cerebrum	29954	POMT2	OMIM:613156
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9215	LARGE1	ORPHA:370968
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9215	LARGE1	OMIM:236670
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9215	LARGE1	ORPHA:899
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10585	POMT1	ORPHA:370968
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10585	POMT1	ORPHA:370980
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10585	POMT1	ORPHA:370959
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10585	POMT1	OMIM:609308
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10585	POMT1	OMIM:236670
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10585	POMT1	ORPHA:899
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10585	POMT1	ORPHA:86812
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10585	POMT1	OMIM:613155
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55777	MBD5	OMIM:156200
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55777	MBD5	ORPHA:228402
HP:0007364	Aplasia/Hypoplasia of the cerebrum	347733	TUBB2B	ORPHA:467166
HP:0007364	Aplasia/Hypoplasia of the cerebrum	347733	TUBB2B	ORPHA:300573
HP:0007364	Aplasia/Hypoplasia of the cerebrum	347733	TUBB2B	OMIM:610031
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7846	TUBA1A	ORPHA:467166
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7846	TUBA1A	OMIM:611603
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7846	TUBA1A	ORPHA:171680
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10381	TUBB3	ORPHA:467166
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10381	TUBB3	OMIM:614039
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84340	GFM2	ORPHA:565624
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84340	GFM2	OMIM:618397
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10588	MTHFS	OMIM:618367
HP:0007364	Aplasia/Hypoplasia of the cerebrum	22930	RAB3GAP1	OMIM:600118
HP:0007364	Aplasia/Hypoplasia of the cerebrum	22930	RAB3GAP1	OMIM:619420
HP:0007364	Aplasia/Hypoplasia of the cerebrum	22930	RAB3GAP1	ORPHA:2510
HP:0007364	Aplasia/Hypoplasia of the cerebrum	22930	RAB3GAP1	ORPHA:1387
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2334	AFF2	OMIM:309548
HP:0007364	Aplasia/Hypoplasia of the cerebrum	92255	LMBRD2	OMIM:619694
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7468	NSD2	OMIM:619695
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7468	NSD2	OMIM:194190
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7468	NSD2	ORPHA:280
HP:0007364	Aplasia/Hypoplasia of the cerebrum	267010	RNU12	OMIM:620208
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3054	HCFC1	OMIM:309541
HP:0007364	Aplasia/Hypoplasia of the cerebrum	201163	FLCN	OMIM:610883
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2019	EN1	OMIM:619218
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3183	HNRNPC	OMIM:620688
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3431	SP110	OMIM:235550
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3431	SP110	ORPHA:79124
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51608	GET4	OMIM:620200
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7703	PCGF2	OMIM:618371
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23111	SPART	ORPHA:101000
HP:0007364	Aplasia/Hypoplasia of the cerebrum	27316	RBMX	OMIM:309555
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6390	SDHB	OMIM:619224
HP:0007364	Aplasia/Hypoplasia of the cerebrum	11342	RNF13	OMIM:618379
HP:0007364	Aplasia/Hypoplasia of the cerebrum	11342	RNF13	ORPHA:544503
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8802	SUCLG1	ORPHA:17
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4613	MYCN	OMIM:164280
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4613	MYCN	ORPHA:391641
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51729	WBP11	OMIM:619227
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6304	SATB1	OMIM:619228
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6304	SATB1	OMIM:619229
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2218	FKTN	ORPHA:370980
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2218	FKTN	OMIM:236670
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2218	FKTN	ORPHA:899
HP:0007364	Aplasia/Hypoplasia of the cerebrum	729920	CRPPA	ORPHA:370980
HP:0007364	Aplasia/Hypoplasia of the cerebrum	729920	CRPPA	ORPHA:899
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2697	GJA1	ORPHA:317
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2697	GJA1	OMIM:164200
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2707	GJB3	ORPHA:317
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2531	KDSR	ORPHA:317
HP:0007364	Aplasia/Hypoplasia of the cerebrum	127534	GJB4	ORPHA:317
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3028	HSD17B10	ORPHA:391428
HP:0007364	Aplasia/Hypoplasia of the cerebrum	83480	PUS3	OMIM:617051
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8943	AP3D1	OMIM:617050
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9757	KMT2B	ORPHA:589618
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9757	KMT2B	OMIM:619934
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9757	KMT2B	OMIM:617284
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84265	POLR3GL	OMIM:619234
HP:0007364	Aplasia/Hypoplasia of the cerebrum	134218	DNAJC21	OMIM:617052
HP:0007364	Aplasia/Hypoplasia of the cerebrum	27107	ZBTB11	OMIM:618383
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8452	CUL3	OMIM:619239
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6608	SMO	OMIM:241800
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55624	POMGNT1	ORPHA:370959
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55624	POMGNT1	OMIM:253280
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55624	POMGNT1	ORPHA:899
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55624	POMGNT1	OMIM:613151
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51360	MBTPS2	OMIM:308205
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51360	MBTPS2	ORPHA:85284
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51360	MBTPS2	ORPHA:2273
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1457	CSNK2A1	OMIM:617062
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7204	TRIO	OMIM:617061
HP:0007364	Aplasia/Hypoplasia of the cerebrum	203068	TUBB	OMIM:156610
HP:0007364	Aplasia/Hypoplasia of the cerebrum	203068	TUBB	ORPHA:2505
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55640	FLVCR2	OMIM:225790
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23112	TNRC6B	OMIM:619243
HP:0007364	Aplasia/Hypoplasia of the cerebrum	91875	TTC5	OMIM:619244
HP:0007364	Aplasia/Hypoplasia of the cerebrum	28514	DLL1	ORPHA:280195
HP:0007364	Aplasia/Hypoplasia of the cerebrum	28514	DLL1	OMIM:618709
HP:0007364	Aplasia/Hypoplasia of the cerebrum	28514	DLL1	ORPHA:220386
HP:0007364	Aplasia/Hypoplasia of the cerebrum	28514	DLL1	ORPHA:280200
HP:0007364	Aplasia/Hypoplasia of the cerebrum	28514	DLL1	ORPHA:93926
HP:0007364	Aplasia/Hypoplasia of the cerebrum	28514	DLL1	ORPHA:93924
HP:0007364	Aplasia/Hypoplasia of the cerebrum	28514	DLL1	ORPHA:93925
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2253	FGF8	ORPHA:280195
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2253	FGF8	ORPHA:220386
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2253	FGF8	ORPHA:280200
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2253	FGF8	ORPHA:93926
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2253	FGF8	ORPHA:93924
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2253	FGF8	ORPHA:93925
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6496	SIX3	ORPHA:280195
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6496	SIX3	ORPHA:220386
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6496	SIX3	OMIM:157170
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6496	SIX3	ORPHA:280200
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6496	SIX3	ORPHA:93926
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6496	SIX3	ORPHA:93924
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6496	SIX3	ORPHA:93925
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7050	TGIF1	ORPHA:280195
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7050	TGIF1	OMIM:142946
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7050	TGIF1	ORPHA:220386
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7050	TGIF1	ORPHA:280200
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7050	TGIF1	ORPHA:93926
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7050	TGIF1	ORPHA:93924
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7050	TGIF1	ORPHA:93925
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4838	NODAL	ORPHA:280195
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4838	NODAL	ORPHA:220386
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4838	NODAL	ORPHA:280200
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4838	NODAL	ORPHA:93926
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4838	NODAL	ORPHA:93924
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4838	NODAL	ORPHA:93925
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6469	SHH	ORPHA:280195
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6469	SHH	OMIM:142945
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6469	SHH	ORPHA:220386
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6469	SHH	ORPHA:280200
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6469	SHH	OMIM:147250
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6469	SHH	ORPHA:93926
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6469	SHH	ORPHA:93924
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6469	SHH	ORPHA:93925
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7546	ZIC2	ORPHA:280195
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7546	ZIC2	ORPHA:220386
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7546	ZIC2	ORPHA:280200
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7546	ZIC2	ORPHA:93926
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7546	ZIC2	ORPHA:93924
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7546	ZIC2	ORPHA:93925
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7546	ZIC2	OMIM:609637
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6491	STIL	ORPHA:280195
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6491	STIL	ORPHA:220386
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6491	STIL	ORPHA:93926
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6491	STIL	ORPHA:93924
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6491	STIL	ORPHA:93925
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6491	STIL	ORPHA:2512
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2619	GAS1	ORPHA:280195
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2619	GAS1	ORPHA:220386
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2619	GAS1	ORPHA:280200
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2619	GAS1	ORPHA:93926
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2619	GAS1	ORPHA:93924
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2619	GAS1	ORPHA:93925
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84976	DISP1	ORPHA:280195
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84976	DISP1	ORPHA:220386
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84976	DISP1	ORPHA:280200
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84976	DISP1	ORPHA:93926
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84976	DISP1	ORPHA:93924
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84976	DISP1	ORPHA:93925
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8928	FOXH1	ORPHA:280195
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8928	FOXH1	ORPHA:220386
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8928	FOXH1	ORPHA:280200
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8928	FOXH1	ORPHA:93926
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8928	FOXH1	ORPHA:93924
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8928	FOXH1	ORPHA:93925
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6997	CRIPTO	ORPHA:280195
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6997	CRIPTO	ORPHA:220386
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6997	CRIPTO	ORPHA:280200
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6997	CRIPTO	ORPHA:93926
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6997	CRIPTO	ORPHA:93924
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6997	CRIPTO	ORPHA:93925
HP:0007364	Aplasia/Hypoplasia of the cerebrum	50937	CDON	ORPHA:280195
HP:0007364	Aplasia/Hypoplasia of the cerebrum	50937	CDON	ORPHA:220386
HP:0007364	Aplasia/Hypoplasia of the cerebrum	50937	CDON	ORPHA:280200
HP:0007364	Aplasia/Hypoplasia of the cerebrum	50937	CDON	OMIM:614226
HP:0007364	Aplasia/Hypoplasia of the cerebrum	50937	CDON	ORPHA:93926
HP:0007364	Aplasia/Hypoplasia of the cerebrum	50937	CDON	ORPHA:93924
HP:0007364	Aplasia/Hypoplasia of the cerebrum	50937	CDON	ORPHA:93925
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8450	CUL4B	ORPHA:85293
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55717	WDR11	OMIM:620237
HP:0007364	Aplasia/Hypoplasia of the cerebrum	93587	TRMT10A	ORPHA:391408
HP:0007364	Aplasia/Hypoplasia of the cerebrum	93587	TRMT10A	OMIM:616033
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84919	PPP1R15B	ORPHA:391408
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84919	PPP1R15B	OMIM:616817
HP:0007364	Aplasia/Hypoplasia of the cerebrum	201595	STT3B	ORPHA:370924
HP:0007364	Aplasia/Hypoplasia of the cerebrum	201595	STT3B	OMIM:615597
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10436	EMG1	OMIM:211180
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10436	EMG1	ORPHA:1270
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6748	SSR4	ORPHA:370927
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6748	SSR4	OMIM:300934
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10084	PQBP1	OMIM:309500
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10084	PQBP1	ORPHA:93950
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10084	PQBP1	ORPHA:93946
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10084	PQBP1	ORPHA:93947
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10479	SLC9A6	ORPHA:85278
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10479	SLC9A6	OMIM:300243
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8242	KDM5C	ORPHA:85279
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8242	KDM5C	OMIM:300534
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1315	COPB1	OMIM:619255
HP:0007364	Aplasia/Hypoplasia of the cerebrum	89970	RSPRY1	ORPHA:457395
HP:0007364	Aplasia/Hypoplasia of the cerebrum	89970	RSPRY1	OMIM:616723
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8831	SYNGAP1	OMIM:612621
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8831	SYNGAP1	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8831	SYNGAP1	ORPHA:1942
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8831	SYNGAP1	ORPHA:544254
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54187	NANS	OMIM:610442
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84464	SLX4	OMIM:613951
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84464	SLX4	ORPHA:84
HP:0007364	Aplasia/Hypoplasia of the cerebrum	284058	KANSL1	OMIM:610443
HP:0007364	Aplasia/Hypoplasia of the cerebrum	284058	KANSL1	ORPHA:363958
HP:0007364	Aplasia/Hypoplasia of the cerebrum	284058	KANSL1	ORPHA:363965
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1968	EIF2S3	ORPHA:85282
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1968	EIF2S3	OMIM:300148
HP:0007364	Aplasia/Hypoplasia of the cerebrum	81615	TMEM163	OMIM:620243
HP:0007364	Aplasia/Hypoplasia of the cerebrum	64131	XYLT1	ORPHA:370930
HP:0007364	Aplasia/Hypoplasia of the cerebrum	64131	XYLT1	OMIM:615777
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2801	GOLGA2	OMIM:620240
HP:0007364	Aplasia/Hypoplasia of the cerebrum	116150	NUS1	OMIM:617082
HP:0007364	Aplasia/Hypoplasia of the cerebrum	116150	NUS1	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55181	SMG8	OMIM:619268
HP:0007364	Aplasia/Hypoplasia of the cerebrum	25886	POC1A	OMIM:614813
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3516	RBPJ	OMIM:614814
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5138	PDE2A	OMIM:619150
HP:0007364	Aplasia/Hypoplasia of the cerebrum	128	ADH5	OMIM:619151
HP:0007364	Aplasia/Hypoplasia of the cerebrum	64374	SIL1	OMIM:248800
HP:0007364	Aplasia/Hypoplasia of the cerebrum	64374	SIL1	ORPHA:559
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6535	SLC6A8	OMIM:300352
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6535	SLC6A8	ORPHA:52503
HP:0007364	Aplasia/Hypoplasia of the cerebrum	26960	NBEA	OMIM:619157
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6309	SC5D	ORPHA:46059
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6309	SC5D	OMIM:607330
HP:0007364	Aplasia/Hypoplasia of the cerebrum	26128	KIFBP	OMIM:609460
HP:0007364	Aplasia/Hypoplasia of the cerebrum	26128	KIFBP	ORPHA:66629
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5885	RAD21	OMIM:614701
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5885	RAD21	ORPHA:502
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5885	RAD21	ORPHA:199
HP:0007364	Aplasia/Hypoplasia of the cerebrum	781	CACNA2D1	OMIM:620149
HP:0007364	Aplasia/Hypoplasia of the cerebrum	781	CACNA2D1	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7518	XRCC4	ORPHA:99812
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7518	XRCC4	OMIM:616541
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3981	LIG4	ORPHA:99812
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3981	LIG4	ORPHA:235
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3981	LIG4	OMIM:606593
HP:0007364	Aplasia/Hypoplasia of the cerebrum	80144	FRAS1	OMIM:219000
HP:0007364	Aplasia/Hypoplasia of the cerebrum	80144	FRAS1	ORPHA:2052
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10093	ARPC4	OMIM:620141
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4784	NFIX	ORPHA:447980
HP:0007364	Aplasia/Hypoplasia of the cerebrum	613	BCR	ORPHA:261330
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1399	CRKL	ORPHA:261330
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5594	MAPK1	ORPHA:261330
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5594	MAPK1	OMIM:619087
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9640	ZNF592	ORPHA:83472
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84942	WDR73	ORPHA:83472
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84942	WDR73	ORPHA:2065
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84942	WDR73	OMIM:251300
HP:0007364	Aplasia/Hypoplasia of the cerebrum	224	ALDH3A2	ORPHA:816
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2314	FLII	ORPHA:819
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23096	IQSEC2	ORPHA:819
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10743	RAI1	ORPHA:819
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10743	RAI1	ORPHA:1713
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10522	DEAF1	ORPHA:819
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10522	DEAF1	ORPHA:468620
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1717	DHCR7	ORPHA:818
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1717	DHCR7	OMIM:270400
HP:0007364	Aplasia/Hypoplasia of the cerebrum	29072	SETD2	OMIM:620157
HP:0007364	Aplasia/Hypoplasia of the cerebrum	29072	SETD2	OMIM:620155
HP:0007364	Aplasia/Hypoplasia of the cerebrum	150468	CKAP2L	ORPHA:3255
HP:0007364	Aplasia/Hypoplasia of the cerebrum	150468	CKAP2L	OMIM:272440
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3242	HPD	OMIM:140350
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9382	COG1	OMIM:611209
HP:0007364	Aplasia/Hypoplasia of the cerebrum	338657	CENATAC	OMIM:620153
HP:0007364	Aplasia/Hypoplasia of the cerebrum	25778	DSTYK	OMIM:270750
HP:0007364	Aplasia/Hypoplasia of the cerebrum	25839	COG4	ORPHA:263501
HP:0007364	Aplasia/Hypoplasia of the cerebrum	25839	COG4	OMIM:613489
HP:0007364	Aplasia/Hypoplasia of the cerebrum	25839	COG4	ORPHA:85172
HP:0007364	Aplasia/Hypoplasia of the cerebrum	56992	KIF15	ORPHA:261323
HP:0007364	Aplasia/Hypoplasia of the cerebrum	56992	KIF15	OMIM:619981
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4718	NDUFC2	OMIM:619170
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1738	DLD	ORPHA:2394
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1738	DLD	OMIM:246900
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4001	LMNB1	OMIM:619179
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4001	LMNB1	ORPHA:2514
HP:0007364	Aplasia/Hypoplasia of the cerebrum	92579	G6PC3	OMIM:612541
HP:0007364	Aplasia/Hypoplasia of the cerebrum	93627	TBCK	OMIM:616900
HP:0007364	Aplasia/Hypoplasia of the cerebrum	93627	TBCK	ORPHA:488632
HP:0007364	Aplasia/Hypoplasia of the cerebrum	672	BRCA1	ORPHA:84
HP:0007364	Aplasia/Hypoplasia of the cerebrum	672	BRCA1	OMIM:617883
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10459	MAD2L2	ORPHA:84
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10459	MAD2L2	OMIM:617243
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7516	XRCC2	ORPHA:84
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7516	XRCC2	OMIM:617247
HP:0007364	Aplasia/Hypoplasia of the cerebrum	29089	UBE2T	ORPHA:84
HP:0007364	Aplasia/Hypoplasia of the cerebrum	675	BRCA2	ORPHA:84
HP:0007364	Aplasia/Hypoplasia of the cerebrum	675	BRCA2	OMIM:605724
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55120	FANCL	ORPHA:84
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2177	FANCD2	ORPHA:84
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2177	FANCD2	OMIM:227646
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2175	FANCA	ORPHA:84
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2175	FANCA	OMIM:227650
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2187	FANCB	ORPHA:84
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2176	FANCC	ORPHA:84
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2176	FANCC	OMIM:227645
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2178	FANCE	ORPHA:84
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2178	FANCE	OMIM:600901
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2188	FANCF	ORPHA:84
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2188	FANCF	OMIM:603467
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2189	FANCG	ORPHA:84
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2189	FANCG	OMIM:614082
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5888	RAD51	ORPHA:84
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5888	RAD51	OMIM:617244
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5889	RAD51C	ORPHA:84
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55159	RFWD3	ORPHA:84
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55159	RFWD3	OMIM:617784
HP:0007364	Aplasia/Hypoplasia of the cerebrum	83990	BRIP1	ORPHA:84
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57697	FANCM	ORPHA:84
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55215	FANCI	ORPHA:84
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55215	FANCI	OMIM:609053
HP:0007364	Aplasia/Hypoplasia of the cerebrum	546	ATRX	ORPHA:847
HP:0007364	Aplasia/Hypoplasia of the cerebrum	546	ATRX	OMIM:309580
HP:0007364	Aplasia/Hypoplasia of the cerebrum	546	ATRX	OMIM:301040
HP:0007364	Aplasia/Hypoplasia of the cerebrum	222663	SCUBE3	OMIM:619184
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10367	MICU1	ORPHA:401768
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10367	MICU1	OMIM:615673
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9184	BUB3	ORPHA:1052
HP:0007364	Aplasia/Hypoplasia of the cerebrum	699	BUB1	ORPHA:1052
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9702	CEP57	ORPHA:1052
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9702	CEP57	OMIM:614114
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9319	TRIP13	ORPHA:1052
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9319	TRIP13	OMIM:617598
HP:0007364	Aplasia/Hypoplasia of the cerebrum	701	BUB1B	ORPHA:1052
HP:0007364	Aplasia/Hypoplasia of the cerebrum	701	BUB1B	OMIM:257300
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23036	ZNF292	OMIM:619188
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23545	ATP6V0A2	OMIM:278250
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23545	ATP6V0A2	OMIM:219200
HP:0007364	Aplasia/Hypoplasia of the cerebrum	11284	PNKP	OMIM:613402
HP:0007364	Aplasia/Hypoplasia of the cerebrum	11284	PNKP	ORPHA:1934
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79867	TCTN2	OMIM:613885
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79867	TCTN2	ORPHA:564
HP:0007364	Aplasia/Hypoplasia of the cerebrum	63894	VIPAS39	OMIM:613404
HP:0007364	Aplasia/Hypoplasia of the cerebrum	83879	CDCA7	OMIM:616910
HP:0007364	Aplasia/Hypoplasia of the cerebrum	25942	SIN3A	OMIM:613406
HP:0007364	Aplasia/Hypoplasia of the cerebrum	25942	SIN3A	ORPHA:94065
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10815	CPLX1	OMIM:194190
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10815	CPLX1	ORPHA:280
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1487	CTBP1	OMIM:194190
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1487	CTBP1	ORPHA:280
HP:0007364	Aplasia/Hypoplasia of the cerebrum	53834	FGFRL1	OMIM:194190
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3954	LETM1	OMIM:194190
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3954	LETM1	ORPHA:280
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84947	SERAC1	OMIM:614739
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54084	TSPEAR	OMIM:620173
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5447	POR	OMIM:201750
HP:0007364	Aplasia/Hypoplasia of the cerebrum	56006	SMG9	OMIM:616920
HP:0007364	Aplasia/Hypoplasia of the cerebrum	91754	NEK9	ORPHA:64754
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84720	PIGO	OMIM:614749
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23345	SYNE1	ORPHA:319332
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3675	ITGA3	OMIM:614748
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8379	MAD1L1	OMIM:620189
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5649	RELN	OMIM:257320
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23137	SMC5	OMIM:620185
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55343	SLC35C1	OMIM:266265
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55343	SLC35C1	ORPHA:99843
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79759	ZNF668	OMIM:620194
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1737	DLAT	OMIM:245348
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1737	DLAT	ORPHA:79244
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8050	PDHX	OMIM:245349
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8050	PDHX	ORPHA:255182
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23522	KAT6B	ORPHA:85201
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23522	KAT6B	OMIM:606170
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23522	KAT6B	OMIM:603736
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23522	KAT6B	ORPHA:3047
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6605	SMARCE1	OMIM:616938
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6605	SMARCE1	ORPHA:1465
HP:0007364	Aplasia/Hypoplasia of the cerebrum	388015	RTL1	ORPHA:96334
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8788	DLK1	ORPHA:96334
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55384	MEG3	ORPHA:96334
HP:0007364	Aplasia/Hypoplasia of the cerebrum	158	ADSL	ORPHA:46
HP:0007364	Aplasia/Hypoplasia of the cerebrum	158	ADSL	OMIM:103050
HP:0007364	Aplasia/Hypoplasia of the cerebrum	415	ARSL	OMIM:302950
HP:0007364	Aplasia/Hypoplasia of the cerebrum	81887	LAS1L	OMIM:309585
HP:0007364	Aplasia/Hypoplasia of the cerebrum	545	ATR	ORPHA:808
HP:0007364	Aplasia/Hypoplasia of the cerebrum	545	ATR	OMIM:210600
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1062	CENPE	ORPHA:808
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1062	CENPE	OMIM:616051
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1062	CENPE	ORPHA:2512
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5116	PCNT	ORPHA:808
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5116	PCNT	OMIM:210720
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5116	PCNT	ORPHA:2637
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79902	NUP85	ORPHA:808
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84126	ATRIP	ORPHA:808
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10293	TRAIP	ORPHA:808
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10293	TRAIP	OMIM:616777
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1763	DNA2	ORPHA:808
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1763	DNA2	OMIM:620819
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1763	DNA2	OMIM:615807
HP:0007364	Aplasia/Hypoplasia of the cerebrum	22995	CEP152	ORPHA:808
HP:0007364	Aplasia/Hypoplasia of the cerebrum	22995	CEP152	OMIM:613823
HP:0007364	Aplasia/Hypoplasia of the cerebrum	22995	CEP152	ORPHA:2512
HP:0007364	Aplasia/Hypoplasia of the cerebrum	22995	CEP152	OMIM:614852
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2961	GTF2E2	OMIM:616943
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2961	GTF2E2	ORPHA:33364
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51567	TDP2	OMIM:616949
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6567	SLC16A2	ORPHA:59
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6567	SLC16A2	OMIM:300523
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9276	COPB2	OMIM:617800
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9276	COPB2	OMIM:619884
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9276	COPB2	ORPHA:2512
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3897	L1CAM	ORPHA:1497
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3897	L1CAM	OMIM:304100
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3897	L1CAM	OMIM:303350
HP:0007364	Aplasia/Hypoplasia of the cerebrum	22907	DHX30	OMIM:617804
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9990	SLC12A6	ORPHA:1496
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7407	VARS1	OMIM:617802
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9894	TELO2	OMIM:616954
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9230	RAB11B	OMIM:617807
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10535	RNASEH2A	ORPHA:51
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84153	RNASEH2C	ORPHA:51
HP:0007364	Aplasia/Hypoplasia of the cerebrum	25939	SAMHD1	ORPHA:51
HP:0007364	Aplasia/Hypoplasia of the cerebrum	25939	SAMHD1	OMIM:612952
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79621	RNASEH2B	ORPHA:51
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79621	RNASEH2B	OMIM:610181
HP:0007364	Aplasia/Hypoplasia of the cerebrum	103	ADAR	ORPHA:51
HP:0007364	Aplasia/Hypoplasia of the cerebrum	103	ADAR	OMIM:615010
HP:0007364	Aplasia/Hypoplasia of the cerebrum	100147744	RNU7-1	ORPHA:51
HP:0007364	Aplasia/Hypoplasia of the cerebrum	100147744	RNU7-1	OMIM:619487
HP:0007364	Aplasia/Hypoplasia of the cerebrum	134353	LSM11	ORPHA:51
HP:0007364	Aplasia/Hypoplasia of the cerebrum	64135	IFIH1	ORPHA:51
HP:0007364	Aplasia/Hypoplasia of the cerebrum	64135	IFIH1	OMIM:615846
HP:0007364	Aplasia/Hypoplasia of the cerebrum	56052	ALG1	OMIM:608540
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10075	HUWE1	OMIM:309590
HP:0007364	Aplasia/Hypoplasia of the cerebrum	60529	ALX4	OMIM:613451
HP:0007364	Aplasia/Hypoplasia of the cerebrum	29123	ANKRD11	ORPHA:2332
HP:0007364	Aplasia/Hypoplasia of the cerebrum	29123	ANKRD11	OMIM:148050
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9759	HDAC4	ORPHA:1001
HP:0007364	Aplasia/Hypoplasia of the cerebrum	473	RERE	OMIM:616975
HP:0007364	Aplasia/Hypoplasia of the cerebrum	473	RERE	ORPHA:1606
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1806	DPYD	OMIM:274270
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1806	DPYD	ORPHA:1675
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8085	KMT2D	ORPHA:2322
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8085	KMT2D	OMIM:147920
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7403	KDM6A	ORPHA:2322
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7403	KDM6A	OMIM:300867
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7403	KDM6A	OMIM:147920
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3097	HIVEP2	OMIM:616977
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54820	NDE1	OMIM:605013
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9837	GINS1	OMIM:617827
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79840	NHEJ1	ORPHA:169079
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55906	ZC4H2	OMIM:314580
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55906	ZC4H2	OMIM:301041
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2068	ERCC2	ORPHA:1466
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2068	ERCC2	ORPHA:33364
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2068	ERCC2	OMIM:610756
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2068	ERCC2	ORPHA:220295
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2068	ERCC2	OMIM:601675
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2068	ERCC2	ORPHA:910
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2068	ERCC2	OMIM:278730
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2067	ERCC1	ORPHA:1466
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2067	ERCC1	OMIM:610758
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6597	SMARCA4	ORPHA:1465
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6597	SMARCA4	OMIM:614609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6598	SMARCB1	ORPHA:1465
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6598	SMARCB1	OMIM:614608
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6659	SOX4	ORPHA:1465
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6659	SOX4	OMIM:618506
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8289	ARID1A	ORPHA:1465
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8289	ARID1A	OMIM:614607
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5977	DPF2	ORPHA:1465
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6601	SMARCC2	ORPHA:1465
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6602	SMARCD1	ORPHA:1465
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57492	ARID1B	ORPHA:1465
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57492	ARID1B	ORPHA:251056
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57492	ARID1B	OMIM:135900
HP:0007364	Aplasia/Hypoplasia of the cerebrum	196528	ARID2	ORPHA:1465
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6664	SOX11	ORPHA:1465
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6664	SOX11	OMIM:615866
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6709	SPTAN1	OMIM:613477
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6709	SPTAN1	OMIM:620538
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6709	SPTAN1	OMIM:620540
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51741	WWOX	OMIM:614322
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51741	WWOX	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51741	WWOX	OMIM:616211
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4358	MPV17	OMIM:256810
HP:0007364	Aplasia/Hypoplasia of the cerebrum	134701	RIPPLY2	ORPHA:2311
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10683	DLL3	ORPHA:2311
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3955	LFNG	ORPHA:2311
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84667	HES7	ORPHA:2311
HP:0007364	Aplasia/Hypoplasia of the cerebrum	145873	MESP2	ORPHA:2311
HP:0007364	Aplasia/Hypoplasia of the cerebrum	157570	ESCO2	ORPHA:2319
HP:0007364	Aplasia/Hypoplasia of the cerebrum	157570	ESCO2	OMIM:268300
HP:0007364	Aplasia/Hypoplasia of the cerebrum	157570	ESCO2	OMIM:216100
HP:0007364	Aplasia/Hypoplasia of the cerebrum	157570	ESCO2	ORPHA:3103
HP:0007364	Aplasia/Hypoplasia of the cerebrum	197131	UBR1	ORPHA:2315
HP:0007364	Aplasia/Hypoplasia of the cerebrum	197131	UBR1	OMIM:243800
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6792	CDKL5	ORPHA:505652
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6792	CDKL5	ORPHA:1934
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5723	PSPH	ORPHA:79350
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5723	PSPH	OMIM:614023
HP:0007364	Aplasia/Hypoplasia of the cerebrum	26227	PHGDH	ORPHA:79351
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6638	SNRPN	ORPHA:177907
HP:0007364	Aplasia/Hypoplasia of the cerebrum	64840	PORCN	OMIM:305600
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55180	LINS1	OMIM:614340
HP:0007364	Aplasia/Hypoplasia of the cerebrum	80152	CENPT	OMIM:618702
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6697	SPR	ORPHA:70594
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6697	SPR	OMIM:612716
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6134	RPL10	ORPHA:435938
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6134	RPL10	OMIM:300998
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6134	RPL10	ORPHA:459070
HP:0007364	Aplasia/Hypoplasia of the cerebrum	953	ENTPD1	OMIM:615683
HP:0007364	Aplasia/Hypoplasia of the cerebrum	953	ENTPD1	ORPHA:401810
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2893	GRIA4	OMIM:617864
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84628	NTNG2	OMIM:618718
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55691	FRMD4A	ORPHA:466688
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54802	TRIT1	OMIM:617873
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55733	HHAT	ORPHA:1422
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55733	HHAT	OMIM:600092
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4724	NDUFS4	OMIM:252010
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4724	NDUFS4	ORPHA:2609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2260	FGFR1	ORPHA:220386
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2260	FGFR1	ORPHA:280200
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2260	FGFR1	OMIM:190440
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2260	FGFR1	ORPHA:93924
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2260	FGFR1	OMIM:615465
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10735	STAG2	ORPHA:220386
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10735	STAG2	ORPHA:93925
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10735	STAG2	OMIM:301043
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10735	STAG2	OMIM:301022
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8243	SMC1A	ORPHA:220386
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8243	SMC1A	OMIM:300590
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8243	SMC1A	OMIM:301044
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8243	SMC1A	ORPHA:199
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84700	MYO18B	OMIM:616549
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8777	MPDZ	OMIM:615219
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1788	DNMT3A	OMIM:618724
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8086	AAAS	OMIM:231550
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8086	AAAS	ORPHA:869
HP:0007364	Aplasia/Hypoplasia of the cerebrum	26123	TCTN3	ORPHA:2753
HP:0007364	Aplasia/Hypoplasia of the cerebrum	26123	TCTN3	ORPHA:564
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2182	ACSL4	OMIM:300387
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51075	TMX2	OMIM:618730
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57647	DHX37	OMIM:618731
HP:0007364	Aplasia/Hypoplasia of the cerebrum	65057	ACD	OMIM:616553
HP:0007364	Aplasia/Hypoplasia of the cerebrum	65057	ACD	ORPHA:3322
HP:0007364	Aplasia/Hypoplasia of the cerebrum	64221	ROBO3	ORPHA:2744
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1630	DCC	ORPHA:2744
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7545	ZIC1	OMIM:618736
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7545	ZIC1	OMIM:616602
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51763	INPP5K	OMIM:617404
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4281	MID1	ORPHA:2745
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4281	MID1	OMIM:300000
HP:0007364	Aplasia/Hypoplasia of the cerebrum	246329	STAC3	OMIM:255995
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8367	H4C5	OMIM:619950
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3703	STT3A	OMIM:615596
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3703	STT3A	OMIM:619714
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3703	STT3A	ORPHA:370921
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6873	TAF2	OMIM:615599
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1947	EFNB1	ORPHA:1520
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1355	COX15	OMIM:615119
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55627	SMPD4	OMIM:618622
HP:0007364	Aplasia/Hypoplasia of the cerebrum	81857	MED25	OMIM:616449
HP:0007364	Aplasia/Hypoplasia of the cerebrum	81857	MED25	ORPHA:464738
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5361	PLXNA1	OMIM:619955
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4047	LSS	ORPHA:2850
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4047	LSS	OMIM:618840
HP:0007364	Aplasia/Hypoplasia of the cerebrum	197	AHSG	ORPHA:2850
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3694	ITGB6	ORPHA:2850
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3190	HNRNPK	ORPHA:453504
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3190	HNRNPK	ORPHA:352665
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6536	SLC6A9	OMIM:617301
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2782	GNB1	ORPHA:488613
HP:0007364	Aplasia/Hypoplasia of the cerebrum	65082	VPS33A	OMIM:617303
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10730	YME1L1	OMIM:617302
HP:0007364	Aplasia/Hypoplasia of the cerebrum	28960	DCPS	OMIM:616459
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51684	SUFU	ORPHA:280200
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10559	SLC35A1	OMIM:603585
HP:0007364	Aplasia/Hypoplasia of the cerebrum	80153	EDC3	OMIM:616460
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55870	ASH1L	OMIM:617796
HP:0007364	Aplasia/Hypoplasia of the cerebrum	25885	POLR1A	OMIM:616462
HP:0007364	Aplasia/Hypoplasia of the cerebrum	91869	RFT1	ORPHA:244310
HP:0007364	Aplasia/Hypoplasia of the cerebrum	91869	RFT1	OMIM:612015
HP:0007364	Aplasia/Hypoplasia of the cerebrum	816	CAMK2B	OMIM:617799
HP:0007364	Aplasia/Hypoplasia of the cerebrum	815	CAMK2A	OMIM:617798
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9326	ZNHIT3	ORPHA:2836
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5155	PDGFB	ORPHA:1980
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9213	XPR1	ORPHA:1980
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5159	PDGFRB	ORPHA:1980
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57462	MYORG	ORPHA:1980
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6575	SLC20A2	ORPHA:1980
HP:0007364	Aplasia/Hypoplasia of the cerebrum	58494	JAM2	ORPHA:1980
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23184	MESD	OMIM:618644
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55109	AGGF1	ORPHA:90308
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5290	PIK3CA	ORPHA:90308
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2626	GATA4	ORPHA:251071
HP:0007364	Aplasia/Hypoplasia of the cerebrum	652	BMP4	OMIM:607932
HP:0007364	Aplasia/Hypoplasia of the cerebrum	652	BMP4	ORPHA:139471
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54872	PIGG	ORPHA:280
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7469	NELFA	ORPHA:280
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1656	DDX6	OMIM:618653
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1501	CTNND2	ORPHA:281
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9037	SEMA5A	ORPHA:281
HP:0007364	Aplasia/Hypoplasia of the cerebrum	26057	ANKRD17	OMIM:619504
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3737	KCNA2	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1759	DNM1	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8120	AP3B2	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8120	AP3B2	OMIM:617276
HP:0007364	Aplasia/Hypoplasia of the cerebrum	523	ATP6V1A	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	523	ATP6V1A	OMIM:618012
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10991	SLC38A3	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10991	SLC38A3	OMIM:619881
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51343	FZR1	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3747	KCNC2	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1917	EEF1A2	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1917	EEF1A2	OMIM:616393
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23219	FBXO28	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2561	GABRB2	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2558	GABRA5	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2906	GRIN2D	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2906	GRIN2D	OMIM:617162
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1213	CLTC	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23334	SZT2	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	348980	HCN1	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	348980	HCN1	OMIM:618482
HP:0007364	Aplasia/Hypoplasia of the cerebrum	25977	NECAP1	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23241	PACS2	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	16	AARS1	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	16	AARS1	ORPHA:33364
HP:0007364	Aplasia/Hypoplasia of the cerebrum	16	AARS1	OMIM:616339
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6334	SCN8A	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6334	SCN8A	OMIM:614558
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9568	GABBR2	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9568	GABBR2	OMIM:617903
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2555	GABRA2	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2555	GABRA2	OMIM:618557
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55152	DALRD3	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55152	DALRD3	OMIM:618910
HP:0007364	Aplasia/Hypoplasia of the cerebrum	26999	CYFIP2	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	26999	CYFIP2	OMIM:618008
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4915	NTRK2	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	25973	PARS2	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23097	CDK19	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2257	FGF12	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5530	PPP3CA	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	22906	TRAK1	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	22906	TRAK1	OMIM:618201
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2566	GABRG2	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7532	YWHAG	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79876	UBA5	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6328	SCN3A	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6328	SCN3A	OMIM:617935
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6328	SCN3A	OMIM:617938
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10659	CELF2	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	774	CACNA1B	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51412	ACTL6B	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51412	ACTL6B	OMIM:618468
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51412	ACTL6B	OMIM:618470
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2290	FOXG1	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2290	FOXG1	ORPHA:261144
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6506	SLC1A2	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6506	SLC1A2	OMIM:617105
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8867	SYNJ1	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3745	KCNB1	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	284111	SLC13A5	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	284111	SLC13A5	OMIM:615905
HP:0007364	Aplasia/Hypoplasia of the cerebrum	22866	CNKSR2	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	773	CACNA1A	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6323	SCN1A	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6323	SCN1A	ORPHA:1942
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6323	SCN1A	ORPHA:293181
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79947	DHDDS	ORPHA:442835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55623	THUMPD1	OMIM:619989
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57167	SALL4	ORPHA:233
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9935	MAFB	ORPHA:233
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1123	CHN1	ORPHA:233
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54888	NSUN2	ORPHA:235
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54888	NSUN2	OMIM:611091
HP:0007364	Aplasia/Hypoplasia of the cerebrum	253738	EBF3	OMIM:617330
HP:0007364	Aplasia/Hypoplasia of the cerebrum	253738	EBF3	ORPHA:96148
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1182	CLCN3	OMIM:619512
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1182	CLCN3	OMIM:619517
HP:0007364	Aplasia/Hypoplasia of the cerebrum	29081	METTL5	OMIM:618665
HP:0007364	Aplasia/Hypoplasia of the cerebrum	29081	METTL5	ORPHA:2512
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84879	MFSD2A	OMIM:616486
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84879	MFSD2A	ORPHA:2512
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7862	BRPF1	OMIM:617333
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1660	DHX9	OMIM:620988
HP:0007364	Aplasia/Hypoplasia of the cerebrum	286	ANK1	ORPHA:251066
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5860	QDPR	ORPHA:226
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5860	QDPR	OMIM:261630
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7385	UQCRC2	OMIM:615160
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7750	ZMYM2	OMIM:619522
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6621	SNAPC4	OMIM:620515
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57466	SCAF4	OMIM:620511
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57104	PNPLA2	OMIM:610717
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9922	IQSEC1	OMIM:618687
HP:0007364	Aplasia/Hypoplasia of the cerebrum	85365	ALG2	OMIM:607906
HP:0007364	Aplasia/Hypoplasia of the cerebrum	85365	ALG2	ORPHA:79326
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57479	PRR12	OMIM:619539
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2006	ELN	ORPHA:90348
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2006	ELN	ORPHA:904
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10516	FBLN5	ORPHA:90348
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10516	FBLN5	OMIM:219100
HP:0007364	Aplasia/Hypoplasia of the cerebrum	404672	GTF2H5	ORPHA:33364
HP:0007364	Aplasia/Hypoplasia of the cerebrum	833	CARS1	ORPHA:33364
HP:0007364	Aplasia/Hypoplasia of the cerebrum	833	CARS1	OMIM:618891
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7737	RNF113A	ORPHA:33364
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7737	RNF113A	OMIM:300953
HP:0007364	Aplasia/Hypoplasia of the cerebrum	136647	MPLKIP	ORPHA:33364
HP:0007364	Aplasia/Hypoplasia of the cerebrum	136647	MPLKIP	OMIM:234050
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6897	TARS1	ORPHA:33364
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2071	ERCC3	ORPHA:33364
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2071	ERCC3	ORPHA:220295
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2071	ERCC3	OMIM:610651
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2071	ERCC3	ORPHA:910
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6513	SLC2A1	ORPHA:1942
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6513	SLC2A1	ORPHA:168577
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6513	SLC2A1	OMIM:608885
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1173	AP2M1	ORPHA:1942
HP:0007364	Aplasia/Hypoplasia of the cerebrum	340533	NEXMIF	ORPHA:1942
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1106	CHD2	ORPHA:1942
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6529	SLC6A1	ORPHA:1942
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9896	FIG4	OMIM:216340
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9896	FIG4	ORPHA:208441
HP:0007364	Aplasia/Hypoplasia of the cerebrum	29893	PSMC3IP	ORPHA:243
HP:0007364	Aplasia/Hypoplasia of the cerebrum	171568	POLR3H	ORPHA:243
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2516	NR5A1	ORPHA:243
HP:0007364	Aplasia/Hypoplasia of the cerebrum	125150	ZSWIM7	ORPHA:243
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9210	BMP15	ORPHA:243
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23514	SPIDR	ORPHA:243
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2492	FSHR	ORPHA:243
HP:0007364	Aplasia/Hypoplasia of the cerebrum	646	BNC1	ORPHA:243
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4438	MSH4	ORPHA:243
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6595	SMARCA2	OMIM:601358
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6595	SMARCA2	ORPHA:3051
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6576	SLC25A1	OMIM:615182
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8621	CDK13	OMIM:617360
HP:0007364	Aplasia/Hypoplasia of the cerebrum	133686	NADK2	OMIM:616034
HP:0007364	Aplasia/Hypoplasia of the cerebrum	133686	NADK2	ORPHA:431361
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5587	PRKD1	OMIM:617364
HP:0007364	Aplasia/Hypoplasia of the cerebrum	29968	PSAT1	OMIM:616038
HP:0007364	Aplasia/Hypoplasia of the cerebrum	11338	U2AF2	OMIM:620535
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8905	AP1S2	OMIM:304340
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8905	AP1S2	ORPHA:85329
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3736	KCNA1	ORPHA:1934
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9091	PIGQ	ORPHA:1934
HP:0007364	Aplasia/Hypoplasia of the cerebrum	140679	SLC32A1	ORPHA:1934
HP:0007364	Aplasia/Hypoplasia of the cerebrum	81603	TRIM8	ORPHA:1934
HP:0007364	Aplasia/Hypoplasia of the cerebrum	81603	TRIM8	OMIM:619428
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2902	GRIN1	ORPHA:1934
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2902	GRIN1	OMIM:614254
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2902	GRIN1	OMIM:619814
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2902	GRIN1	ORPHA:208447
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79751	SLC25A22	ORPHA:1934
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79751	SLC25A22	ORPHA:293181
HP:0007364	Aplasia/Hypoplasia of the cerebrum	150094	SIK1	ORPHA:1934
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23312	DMXL2	ORPHA:1934
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2917	GRM7	ORPHA:1934
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2917	GRM7	OMIM:618922
HP:0007364	Aplasia/Hypoplasia of the cerebrum	170302	ARX	ORPHA:1934
HP:0007364	Aplasia/Hypoplasia of the cerebrum	170302	ARX	OMIM:308350
HP:0007364	Aplasia/Hypoplasia of the cerebrum	170302	ARX	OMIM:300004
HP:0007364	Aplasia/Hypoplasia of the cerebrum	170302	ARX	ORPHA:2508
HP:0007364	Aplasia/Hypoplasia of the cerebrum	170302	ARX	ORPHA:452
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6326	SCN2A	ORPHA:1934
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6326	SCN2A	ORPHA:293181
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51227	PIGP	ORPHA:1934
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51227	PIGP	OMIM:617599
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6324	SCN1B	ORPHA:1934
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4761	NEUROD2	ORPHA:1934
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8803	SUCLA2	ORPHA:1933
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54808	DYM	ORPHA:239
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54808	DYM	OMIM:223800
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54808	DYM	OMIM:607326
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51750	RTEL1	OMIM:615190
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51750	RTEL1	ORPHA:3322
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10466	COG5	ORPHA:263487
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10466	COG5	OMIM:613612
HP:0007364	Aplasia/Hypoplasia of the cerebrum	30000	TNPO2	OMIM:619556
HP:0007364	Aplasia/Hypoplasia of the cerebrum	498	ATP5F1A	OMIM:616045
HP:0007364	Aplasia/Hypoplasia of the cerebrum	498	ATP5F1A	ORPHA:254913
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23314	SATB2	ORPHA:251028
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23314	SATB2	ORPHA:251019
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23314	SATB2	OMIM:612313
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4719	NDUFS1	OMIM:618226
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4719	NDUFS1	ORPHA:2609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	83548	COG3	OMIM:620546
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4729	NDUFV2	OMIM:618229
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4729	NDUFV2	ORPHA:2609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7443	VRK1	OMIM:620542
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7443	VRK1	OMIM:607596
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2627	GATA6	OMIM:600001
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55869	HDAC8	OMIM:300882
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55869	HDAC8	ORPHA:199
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1349	COX7B	OMIM:300887
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1349	COX7B	ORPHA:2556
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1349	COX7B	OMIM:309801
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4695	NDUFA2	OMIM:618235
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79868	ALG13	OMIM:300884
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9342	SNAP29	ORPHA:66631
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9179	AP4M1	OMIM:612936
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9179	AP4M1	ORPHA:280763
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9126	SMC3	OMIM:610759
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9126	SMC3	ORPHA:199
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3192	HNRNPU	OMIM:617391
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3192	HNRNPU	ORPHA:238769
HP:0007364	Aplasia/Hypoplasia of the cerebrum	56915	EXOSC5	OMIM:619576
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8260	NAA10	OMIM:300855
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8260	NAA10	ORPHA:568
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8260	NAA10	OMIM:309800
HP:0007364	Aplasia/Hypoplasia of the cerebrum	11274	USP18	OMIM:617397
HP:0007364	Aplasia/Hypoplasia of the cerebrum	340665	CYP26C1	ORPHA:398189
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5831	PYCR1	OMIM:612940
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23476	BRD4	OMIM:620568
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23476	BRD4	ORPHA:199
HP:0007364	Aplasia/Hypoplasia of the cerebrum	92344	GORAB	OMIM:231070
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6898	TAT	ORPHA:28378
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2898	GRIK2	OMIM:619580
HP:0007364	Aplasia/Hypoplasia of the cerebrum	80324	PUS1	OMIM:600462
HP:0007364	Aplasia/Hypoplasia of the cerebrum	80324	PUS1	ORPHA:2598
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9496	TBX4	ORPHA:261279
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10524	KAT5	OMIM:619103
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9451	EIF2AK3	OMIM:226980
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9451	EIF2AK3	ORPHA:1667
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5277	PIGA	OMIM:300868
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5277	PIGA	ORPHA:293181
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5277	PIGA	OMIM:301072
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8635	RNASET2	OMIM:612951
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5000	ORC4	OMIM:613800
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5000	ORC4	ORPHA:2554
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4990	SIX6	OMIM:206900
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6657	SOX2	OMIM:206900
HP:0007364	Aplasia/Hypoplasia of the cerebrum	81620	CDT1	OMIM:613804
HP:0007364	Aplasia/Hypoplasia of the cerebrum	81620	CDT1	ORPHA:2554
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23594	ORC6	OMIM:613803
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23594	ORC6	ORPHA:2554
HP:0007364	Aplasia/Hypoplasia of the cerebrum	990	CDC6	OMIM:613805
HP:0007364	Aplasia/Hypoplasia of the cerebrum	990	CDC6	ORPHA:2554
HP:0007364	Aplasia/Hypoplasia of the cerebrum	50814	NSDHL	OMIM:300831
HP:0007364	Aplasia/Hypoplasia of the cerebrum	50814	NSDHL	ORPHA:251383
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57003	CCDC47	OMIM:618268
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10847	SRCAP	OMIM:619595
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55526	DHTKD1	OMIM:204750
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1528	CYB5A	ORPHA:621
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1727	CYB5R3	ORPHA:621
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1727	CYB5R3	OMIM:250800
HP:0007364	Aplasia/Hypoplasia of the cerebrum	526	ATP6V1B2	ORPHA:79500
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57465	TBC1D24	ORPHA:79500
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57465	TBC1D24	ORPHA:293181
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57465	TBC1D24	ORPHA:352596
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57465	TBC1D24	OMIM:220500
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57465	TBC1D24	OMIM:615338
HP:0007364	Aplasia/Hypoplasia of the cerebrum	90522	YIF1B	OMIM:619125
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55755	CDK5RAP2	OMIM:604804
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55755	CDK5RAP2	ORPHA:2512
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6472	SHMT2	OMIM:619121
HP:0007364	Aplasia/Hypoplasia of the cerebrum	90416	CCDC32	OMIM:619123
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23287	AGTPBP1	OMIM:618276
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9895	TECPR2	ORPHA:320385
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9895	TECPR2	OMIM:615031
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3739	KCNA4	OMIM:618284
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55835	CPAP	OMIM:608393
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55835	CPAP	OMIM:613676
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8481	OFD1	OMIM:300804
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8481	OFD1	OMIM:311200
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4683	NBN	ORPHA:647
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4683	NBN	OMIM:251260
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4693	NDP	ORPHA:649
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4693	NDP	ORPHA:891
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3735	KARS1	OMIM:619147
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8665	EIF3F	OMIM:618295
HP:0007364	Aplasia/Hypoplasia of the cerebrum	221692	PHACTR1	OMIM:618298
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8517	IKBKG	OMIM:308300
HP:0007364	Aplasia/Hypoplasia of the cerebrum	11198	SUPT16H	ORPHA:261229
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57680	CHD8	ORPHA:261229
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10134	BCAP31	OMIM:300475
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10134	BCAP31	ORPHA:369939
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3763	KCNJ6	ORPHA:435628
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3763	KCNJ6	OMIM:614098
HP:0007364	Aplasia/Hypoplasia of the cerebrum	341640	FREM2	ORPHA:2052
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23426	GRIP1	ORPHA:2052
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10262	SF3B4	OMIM:154400
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8506	CNTNAP1	OMIM:618186
HP:0007364	Aplasia/Hypoplasia of the cerebrum	145173	B3GLCT	ORPHA:709
HP:0007364	Aplasia/Hypoplasia of the cerebrum	145173	B3GLCT	OMIM:261540
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7109	TRAPPC10	OMIM:620027
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7109	TRAPPC10	ORPHA:2512
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55325	UFSP2	OMIM:620028
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57468	SLC12A5	ORPHA:293181
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23236	PLCB1	ORPHA:293181
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3785	KCNQ2	ORPHA:293181
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57582	KCNT1	ORPHA:293181
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57582	KCNT1	OMIM:614959
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10274	STAG1	ORPHA:502434
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10274	STAG1	OMIM:617635
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1119	CHKA	OMIM:620023
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8496	PPFIBP1	OMIM:620024
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5111	PCNA	OMIM:615919
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5111	PCNA	ORPHA:438134
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2629	GBA1	OMIM:608013
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57176	VARS2	OMIM:615917
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1636	ACE	OMIM:267430
HP:0007364	Aplasia/Hypoplasia of the cerebrum	183	AGT	OMIM:267430
HP:0007364	Aplasia/Hypoplasia of the cerebrum	185	AGTR1	OMIM:267430
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5972	REN	OMIM:267430
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54968	TMEM70	ORPHA:1194
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55163	PNPO	ORPHA:79096
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5689	PSMB1	OMIM:620038
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23431	AP4E1	OMIM:613744
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23431	AP4E1	ORPHA:280763
HP:0007364	Aplasia/Hypoplasia of the cerebrum	25782	RAB3GAP2	OMIM:212720
HP:0007364	Aplasia/Hypoplasia of the cerebrum	25782	RAB3GAP2	OMIM:614225
HP:0007364	Aplasia/Hypoplasia of the cerebrum	25782	RAB3GAP2	ORPHA:2510
HP:0007364	Aplasia/Hypoplasia of the cerebrum	25782	RAB3GAP2	ORPHA:1387
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10472	ZBTB18	ORPHA:36367
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10472	ZBTB18	OMIM:612337
HP:0007364	Aplasia/Hypoplasia of the cerebrum	63908	NAPB	OMIM:620033
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7298	TYMS	OMIM:620040
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1351	COX8A	OMIM:619059
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4509	MT-ATP8	ORPHA:254913
HP:0007364	Aplasia/Hypoplasia of the cerebrum	514	ATP5F1E	ORPHA:254913
HP:0007364	Aplasia/Hypoplasia of the cerebrum	513	ATP5F1D	ORPHA:254913
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4508	MT-ATP6	ORPHA:254913
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84833	ATP5MK	ORPHA:254913
HP:0007364	Aplasia/Hypoplasia of the cerebrum	91647	ATPAF2	ORPHA:254913
HP:0007364	Aplasia/Hypoplasia of the cerebrum	91647	ATPAF2	OMIM:604273
HP:0007364	Aplasia/Hypoplasia of the cerebrum	100131801	PET100	OMIM:619055
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10908	PNPLA6	ORPHA:3363
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5428	POLG	ORPHA:726
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7080	NKX2-1	ORPHA:209905
HP:0007364	Aplasia/Hypoplasia of the cerebrum	259232	NALCN	ORPHA:562528
HP:0007364	Aplasia/Hypoplasia of the cerebrum	259232	NALCN	OMIM:615419
HP:0007364	Aplasia/Hypoplasia of the cerebrum	259232	NALCN	ORPHA:371364
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4212	MEIS2	OMIM:600987
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4212	MEIS2	ORPHA:261190
HP:0007364	Aplasia/Hypoplasia of the cerebrum	26053	AUTS2	ORPHA:352490
HP:0007364	Aplasia/Hypoplasia of the cerebrum	26053	AUTS2	OMIM:615834
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79813	EHMT1	OMIM:610253
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79813	EHMT1	ORPHA:261652
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79813	EHMT1	ORPHA:96147
HP:0007364	Aplasia/Hypoplasia of the cerebrum	26005	C2CD3	OMIM:615948
HP:0007364	Aplasia/Hypoplasia of the cerebrum	26005	C2CD3	ORPHA:434179
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10382	TUBB4A	OMIM:612438
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23265	EXOC7	OMIM:619072
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1802	DPH2	OMIM:620062
HP:0007364	Aplasia/Hypoplasia of the cerebrum	443	ASPA	OMIM:271900
HP:0007364	Aplasia/Hypoplasia of the cerebrum	149371	EXOC8	OMIM:619076
HP:0007364	Aplasia/Hypoplasia of the cerebrum	285175	UNC80	OMIM:616801
HP:0007364	Aplasia/Hypoplasia of the cerebrum	285175	UNC80	ORPHA:371364
HP:0007364	Aplasia/Hypoplasia of the cerebrum	83475	DOHH	OMIM:620066
HP:0007364	Aplasia/Hypoplasia of the cerebrum	92667	MGME1	ORPHA:352447
HP:0007364	Aplasia/Hypoplasia of the cerebrum	92667	MGME1	OMIM:615084
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55027	HEATR3	OMIM:620072
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55027	HEATR3	ORPHA:124
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5700	PSMC1	OMIM:620071
HP:0007364	Aplasia/Hypoplasia of the cerebrum	58508	KMT2C	ORPHA:261652
HP:0007364	Aplasia/Hypoplasia of the cerebrum	58508	KMT2C	OMIM:617768
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4089	SMAD4	OMIM:139210
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1654	DDX3X	ORPHA:3338
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1654	DDX3X	OMIM:300958
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1654	DDX3X	ORPHA:457260
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5591	PRKDC	OMIM:615966
HP:0007364	Aplasia/Hypoplasia of the cerebrum	25828	TXN2	OMIM:616811
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3187	HNRNPH1	OMIM:620083
HP:0007364	Aplasia/Hypoplasia of the cerebrum	63895	PIEZO2	OMIM:248700
HP:0007364	Aplasia/Hypoplasia of the cerebrum	63895	PIEZO2	ORPHA:2461
HP:0007364	Aplasia/Hypoplasia of the cerebrum	22880	MORC2	OMIM:619090
HP:0007364	Aplasia/Hypoplasia of the cerebrum	22880	MORC2	ORPHA:466768
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4677	NARS1	OMIM:619091
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4677	NARS1	OMIM:619092
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7355	SLC35A2	OMIM:300896
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7355	SLC35A2	ORPHA:356961
HP:0007364	Aplasia/Hypoplasia of the cerebrum	80184	CEP290	OMIM:611134
HP:0007364	Aplasia/Hypoplasia of the cerebrum	80184	CEP290	ORPHA:564
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5073	PARN	ORPHA:3322
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5073	PARN	OMIM:616353
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7015	TERT	ORPHA:3322
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7015	TERT	OMIM:613989
HP:0007364	Aplasia/Hypoplasia of the cerebrum	26277	TINF2	ORPHA:3322
HP:0007364	Aplasia/Hypoplasia of the cerebrum	26277	TINF2	OMIM:268130
HP:0007364	Aplasia/Hypoplasia of the cerebrum	26277	TINF2	OMIM:613990
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1736	DKC1	ORPHA:3322
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1736	DKC1	OMIM:305000
HP:0007364	Aplasia/Hypoplasia of the cerebrum	92154	MTSS2	OMIM:620086
HP:0007364	Aplasia/Hypoplasia of the cerebrum	197322	ACSF3	ORPHA:289504
HP:0007364	Aplasia/Hypoplasia of the cerebrum	63925	ZNF335	ORPHA:329228
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2703	GJA8	OMIM:612474
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2702	GJA5	OMIM:612474
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55690	PACS1	ORPHA:329224
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51053	GMNN	OMIM:616835
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51053	GMNN	ORPHA:2554
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10664	CTCF	OMIM:615502
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10664	CTCF	ORPHA:363611
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6307	MSMO1	OMIM:616834
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2200	FBN1	ORPHA:2462
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6497	SKI	ORPHA:2462
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6497	SKI	ORPHA:1606
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6497	SKI	OMIM:182212
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1828	DSG1	OMIM:615508
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3720	JARID2	OMIM:620098
HP:0007364	Aplasia/Hypoplasia of the cerebrum	579	NKX3-2	OMIM:613330
HP:0007364	Aplasia/Hypoplasia of the cerebrum	85358	SHANK3	OMIM:606232
HP:0007364	Aplasia/Hypoplasia of the cerebrum	549	AUH	ORPHA:67046
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55784	MCTP2	ORPHA:1596
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6301	SARS1	OMIM:617709
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6301	SARS1	ORPHA:2512
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55997	CFC1	OMIM:605376
HP:0007364	Aplasia/Hypoplasia of the cerebrum	26224	FBXL3	OMIM:606220
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4204	MECP2	OMIM:300055
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4204	MECP2	ORPHA:209370
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4204	MECP2	OMIM:300260
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5925	RB1	ORPHA:1587
HP:0007364	Aplasia/Hypoplasia of the cerebrum	27315	PGAP2	OMIM:614207
HP:0007364	Aplasia/Hypoplasia of the cerebrum	83987	CCDC8	OMIM:614205
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84342	COG8	OMIM:611182
HP:0007364	Aplasia/Hypoplasia of the cerebrum	80185	TTI2	OMIM:615541
HP:0007364	Aplasia/Hypoplasia of the cerebrum	80185	TTI2	ORPHA:391307
HP:0007364	Aplasia/Hypoplasia of the cerebrum	128989	TANGO2	OMIM:616878
HP:0007364	Aplasia/Hypoplasia of the cerebrum	128989	TANGO2	ORPHA:480864
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55644	OSGEP	OMIM:617729
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55644	OSGEP	ORPHA:2065
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57572	DOCK6	OMIM:614219
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2464	FRA16E	OMIM:136570
HP:0007364	Aplasia/Hypoplasia of the cerebrum	22931	RAB18	OMIM:614222
HP:0007364	Aplasia/Hypoplasia of the cerebrum	22931	RAB18	ORPHA:2510
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23443	SLC35A3	OMIM:615553
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6925	TCF4	ORPHA:2896
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6925	TCF4	OMIM:610954
HP:0007364	Aplasia/Hypoplasia of the cerebrum	202018	TAPT1	OMIM:616897
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54805	CNNM2	OMIM:616418
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6591	SNAI2	ORPHA:2884
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3815	KIT	ORPHA:2884
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3756	KCNH1	ORPHA:420561
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1376	CPT2	OMIM:608836
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10717	AP4B1	ORPHA:280763
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10717	AP4B1	OMIM:614066
HP:0007364	Aplasia/Hypoplasia of the cerebrum	11154	AP4S1	ORPHA:280763
HP:0007364	Aplasia/Hypoplasia of the cerebrum	11154	AP4S1	OMIM:614067
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9320	TRIP12	OMIM:617752
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5879	RAC1	OMIM:617751
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5879	RAC1	ORPHA:500159
HP:0007364	Aplasia/Hypoplasia of the cerebrum	440	ASNS	OMIM:615574
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1663	DDX11	OMIM:613398
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2186	BPTF	OMIM:617755
HP:0007364	Aplasia/Hypoplasia of the cerebrum	738	VPS51	OMIM:618606
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9439	MED23	OMIM:614249
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5430	POLR2A	OMIM:618603
HP:0007364	Aplasia/Hypoplasia of the cerebrum	22827	PUF60	OMIM:615583
HP:0007364	Aplasia/Hypoplasia of the cerebrum	22827	PUF60	ORPHA:508498
HP:0007364	Aplasia/Hypoplasia of the cerebrum	547	KIF1A	OMIM:614255
HP:0007364	Aplasia/Hypoplasia of the cerebrum	26235	FBXL4	OMIM:615471
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23019	CNOT1	OMIM:618500
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55823	VPS11	ORPHA:466934
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55823	VPS11	OMIM:616683
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6777	STAT5B	OMIM:618985
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4897	NRCAM	OMIM:619833
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5927	KDM5A	OMIM:620820
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23498	HAAO	OMIM:617660
HP:0007364	Aplasia/Hypoplasia of the cerebrum	161582	DNAAF4	OMIM:615482
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9578	CDC42BPB	OMIM:619841
HP:0007364	Aplasia/Hypoplasia of the cerebrum	65993	MRPS34	OMIM:617664
HP:0007364	Aplasia/Hypoplasia of the cerebrum	80816	ASXL3	OMIM:615485
HP:0007364	Aplasia/Hypoplasia of the cerebrum	80816	ASXL3	ORPHA:352577
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8942	KYNU	OMIM:617661
HP:0007364	Aplasia/Hypoplasia of the cerebrum	387787	LIPT2	OMIM:617668
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1841	DTYMK	OMIM:619847
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5424	POLD1	OMIM:620836
HP:0007364	Aplasia/Hypoplasia of the cerebrum	27229	TUBGCP4	OMIM:616335
HP:0007364	Aplasia/Hypoplasia of the cerebrum	27229	TUBGCP4	ORPHA:2518
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3149	HMGB3	OMIM:300915
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2132	EXT2	ORPHA:466926
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2132	EXT2	OMIM:616682
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51112	TRAPPC12	OMIM:617669
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55636	CHD7	ORPHA:138
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55636	CHD7	OMIM:214800
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9723	SEMA3E	ORPHA:138
HP:0007364	Aplasia/Hypoplasia of the cerebrum	284403	WDR62	OMIM:604317
HP:0007364	Aplasia/Hypoplasia of the cerebrum	284403	WDR62	ORPHA:2512
HP:0007364	Aplasia/Hypoplasia of the cerebrum	288	ANK3	OMIM:615493
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23250	ATP11A	OMIM:619851
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1020	CDK5	OMIM:616342
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7994	KAT6A	ORPHA:457193
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7994	KAT6A	OMIM:616268
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1716	DGUOK	OMIM:251880
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8550	MAPKAPK5	OMIM:619869
HP:0007364	Aplasia/Hypoplasia of the cerebrum	11193	WBP4	OMIM:620852
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23007	PLCH1	ORPHA:93925
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23007	PLCH1	OMIM:619895
HP:0007364	Aplasia/Hypoplasia of the cerebrum	26834	RNU4-2	OMIM:620851
HP:0007364	Aplasia/Hypoplasia of the cerebrum	788	SLC25A20	ORPHA:159
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5518	PPP2R1A	OMIM:616362
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23126	POGZ	OMIM:616364
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23126	POGZ	ORPHA:468678
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55773	TBC1D23	OMIM:617695
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8558	CDK10	OMIM:617694
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51692	CPSF3	OMIM:619876
HP:0007364	Aplasia/Hypoplasia of the cerebrum	116115	ZNF526	OMIM:619877
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5590	PRKCZ	ORPHA:1606
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2563	GABRD	ORPHA:1606
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23013	SPEN	ORPHA:1606
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23013	SPEN	OMIM:619312
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8510	MMP23B	ORPHA:1606
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7798	LUZP1	ORPHA:1606
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10630	PDPN	ORPHA:1606
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10277	UBE4B	ORPHA:1606
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8514	KCNAB2	ORPHA:1606
HP:0007364	Aplasia/Hypoplasia of the cerebrum	63976	PRDM16	ORPHA:1606
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54897	CASZ1	ORPHA:1606
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1859	DYRK1A	ORPHA:464311
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1859	DYRK1A	ORPHA:268261
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1859	DYRK1A	OMIM:614104
HP:0007364	Aplasia/Hypoplasia of the cerebrum	285362	SUMF1	ORPHA:585
HP:0007364	Aplasia/Hypoplasia of the cerebrum	83479	DDX59	ORPHA:2919
HP:0007364	Aplasia/Hypoplasia of the cerebrum	83479	DDX59	OMIM:174300
HP:0007364	Aplasia/Hypoplasia of the cerebrum	56098	PCDHGC4	OMIM:619880
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4285	MIPEP	OMIM:617228
HP:0007364	Aplasia/Hypoplasia of the cerebrum	641	BLM	OMIM:210900
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79633	FAT4	ORPHA:314679
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8642	DCHS1	ORPHA:314679
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57192	MCOLN1	ORPHA:578
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57192	MCOLN1	OMIM:252650
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5354	PLP1	OMIM:312080
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3798	KIF5A	OMIM:617235
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57679	ALS2	OMIM:205100
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57679	ALS2	ORPHA:300605
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8565	YARS1	OMIM:619418
HP:0007364	Aplasia/Hypoplasia of the cerebrum	374969	SVBP	OMIM:618569
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84295	PHF6	ORPHA:127
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84295	PHF6	OMIM:301900
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6138	RPL15	ORPHA:124
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6224	RPS20	ORPHA:124
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6165	RPL35A	ORPHA:124
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6132	RPL8	ORPHA:124
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6223	RPS19	ORPHA:124
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6223	RPS19	OMIM:105650
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6232	RPS27	ORPHA:124
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6160	RPL31	ORPHA:124
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6201	RPS7	ORPHA:124
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6155	RPL27	ORPHA:124
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6234	RPS28	ORPHA:124
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6135	RPL11	ORPHA:124
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6229	RPS24	ORPHA:124
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6125	RPL5	ORPHA:124
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6204	RPS10	ORPHA:124
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2623	GATA1	ORPHA:124
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6133	RPL9	ORPHA:124
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6231	RPS26	ORPHA:124
HP:0007364	Aplasia/Hypoplasia of the cerebrum	11224	RPL35	ORPHA:124
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6218	RPS17	ORPHA:124
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6154	RPL26	ORPHA:124
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6210	RPS15A	ORPHA:124
HP:0007364	Aplasia/Hypoplasia of the cerebrum	90121	TSR2	ORPHA:124
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6141	RPL18	ORPHA:124
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6235	RPS29	ORPHA:124
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51816	ADA2	ORPHA:124
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9742	IFT140	OMIM:266920
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55656	INTS8	OMIM:618572
HP:0007364	Aplasia/Hypoplasia of the cerebrum	165918	RNF168	OMIM:611943
HP:0007364	Aplasia/Hypoplasia of the cerebrum	165918	RNF168	ORPHA:420741
HP:0007364	Aplasia/Hypoplasia of the cerebrum	389827	MYMK	OMIM:254940
HP:0007364	Aplasia/Hypoplasia of the cerebrum	389827	MYMK	ORPHA:1358
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51574	LARP7	OMIM:615071
HP:0007364	Aplasia/Hypoplasia of the cerebrum	286053	NSMCE2	OMIM:617253
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84894	LINGO1	OMIM:618103
HP:0007364	Aplasia/Hypoplasia of the cerebrum	160418	TMTC3	OMIM:617255
HP:0007364	Aplasia/Hypoplasia of the cerebrum	123606	NIPA1	ORPHA:261183
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7283	TUBG1	ORPHA:261183
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7283	TUBG1	OMIM:615412
HP:0007364	Aplasia/Hypoplasia of the cerebrum	81614	NIPA2	ORPHA:261183
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8473	OGT	OMIM:300997
HP:0007364	Aplasia/Hypoplasia of the cerebrum	53371	NUP54	OMIM:620427
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54973	INTS11	OMIM:620428
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6418	SET	OMIM:618106
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9526	MPDU1	OMIM:609180
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1120	CHKB	OMIM:602541
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7707	ZNF148	OMIM:617260
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6299	SALL1	OMIM:107480
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3778	KCNMA1	OMIM:618596
HP:0007364	Aplasia/Hypoplasia of the cerebrum	112939	NACC1	ORPHA:500545
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23524	SRRM2	OMIM:620439
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5053	PAH	OMIM:261600
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5053	PAH	ORPHA:79254
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5053	PAH	ORPHA:2209
HP:0007364	Aplasia/Hypoplasia of the cerebrum	114803	MYSM1	OMIM:618116
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4041	LRP5	OMIM:259770
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4041	LRP5	ORPHA:891
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3039	HBA1	ORPHA:98791
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3040	HBA2	ORPHA:98791
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51132	RLIM	OMIM:300978
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4998	ORC1	OMIM:224690
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4998	ORC1	ORPHA:2554
HP:0007364	Aplasia/Hypoplasia of the cerebrum	27341	RRP7A	OMIM:619453
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3376	IARS1	ORPHA:541423
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9675	TTI1	OMIM:620445
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1312	COMT	ORPHA:567
HP:0007364	Aplasia/Hypoplasia of the cerebrum	221037	JMJD1C	ORPHA:567
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2812	GP1BB	ORPHA:567
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6239	RREB1	ORPHA:567
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6899	TBX1	ORPHA:567
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6899	TBX1	ORPHA:1727
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6899	TBX1	OMIM:192430
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6899	TBX1	OMIM:188400
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7290	HIRA	ORPHA:567
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9632	SEC24C	ORPHA:567
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7353	UFD1	ORPHA:567
HP:0007364	Aplasia/Hypoplasia of the cerebrum	421	ARVCF	ORPHA:567
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5077	PAX3	OMIM:148820
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5077	PAX3	ORPHA:896
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54880	BCOR	ORPHA:568
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54880	BCOR	OMIM:300166
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54880	BCOR	OMIM:309800
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6821	SUOX	OMIM:272300
HP:0007364	Aplasia/Hypoplasia of the cerebrum	538	ATP7A	ORPHA:565
HP:0007364	Aplasia/Hypoplasia of the cerebrum	538	ATP7A	OMIM:309400
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84314	TMEM107	ORPHA:564
HP:0007364	Aplasia/Hypoplasia of the cerebrum	80776	B9D2	ORPHA:564
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79600	TCTN1	ORPHA:564
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57096	RPGRIP1	ORPHA:564
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79848	CSPP1	ORPHA:564
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51259	TMEM216	ORPHA:564
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57545	CC2D2A	ORPHA:564
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79583	TMEM231	ORPHA:564
HP:0007364	Aplasia/Hypoplasia of the cerebrum	91147	TMEM67	ORPHA:564
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79770	TXNDC15	ORPHA:564
HP:0007364	Aplasia/Hypoplasia of the cerebrum	27077	B9D1	ORPHA:564
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23322	RPGRIP1L	ORPHA:564
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54903	MKS1	ORPHA:564
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54903	MKS1	OMIM:249000
HP:0007364	Aplasia/Hypoplasia of the cerebrum	65062	TMEM237	ORPHA:564
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23258	DENND5A	OMIM:617281
HP:0007364	Aplasia/Hypoplasia of the cerebrum	92949	ADAMTSL1	ORPHA:521445
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1974	EIF4A2	OMIM:620455
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4548	MTR	OMIM:250940
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6874	TAF4	OMIM:620450
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79736	TEFM	OMIM:620451
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84065	TMEM222	OMIM:619470
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57187	THOC2	OMIM:300957
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57187	THOC2	ORPHA:457240
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10526	IPO8	OMIM:619472
HP:0007364	Aplasia/Hypoplasia of the cerebrum	348180	CTU2	OMIM:618142
HP:0007364	Aplasia/Hypoplasia of the cerebrum	94005	PIGS	OMIM:618143
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55505	NOP10	OMIM:224230
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55651	NHP2	OMIM:224230
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6711	SPTBN1	OMIM:619475
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3643	INSR	ORPHA:508
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2131	EXT1	ORPHA:502
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7227	TRPS1	ORPHA:502
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6872	TAF1	OMIM:300966
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6872	TAF1	ORPHA:480907
HP:0007364	Aplasia/Hypoplasia of the cerebrum	374879	ZNF699	OMIM:619488
HP:0007364	Aplasia/Hypoplasia of the cerebrum	60676	PAPPA2	OMIM:619489
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9373	PLAA	ORPHA:521426
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57038	RARS2	OMIM:611523
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7284	TUFM	OMIM:610678
HP:0007364	Aplasia/Hypoplasia of the cerebrum	407975	MIR17HG	ORPHA:391646
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55599	RNPC3	OMIM:618160
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5805	PTS	OMIM:261640
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4081	MAB21L1	ORPHA:495875
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4081	MAB21L1	OMIM:618479
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84231	TRAF7	OMIM:618164
HP:0007364	Aplasia/Hypoplasia of the cerebrum	63899	NSUN3	OMIM:619012
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7157	TP53	OMIM:618165
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2193	FARSA	OMIM:619013
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5557	PRIM1	OMIM:620005
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84081	NSRP1	OMIM:620001
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54936	ADPRS	OMIM:618170
HP:0007364	Aplasia/Hypoplasia of the cerebrum	114034	TOE1	ORPHA:284339
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9562	MINPP1	ORPHA:284339
HP:0007364	Aplasia/Hypoplasia of the cerebrum	64432	MRPS25	OMIM:619025
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84842	HPDL	OMIM:619026
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51002	TPRKB	ORPHA:2065
HP:0007364	Aplasia/Hypoplasia of the cerebrum	112858	TP53RK	ORPHA:2065
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8270	LAGE3	ORPHA:2065
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55294	FBXW7	OMIM:620012
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1183	CLCN4	OMIM:300114
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1183	CLCN4	ORPHA:485350
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5393	EXOSC9	OMIM:618065
HP:0007364	Aplasia/Hypoplasia of the cerebrum	123263	MTFMT	OMIM:614947
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10667	FARS2	OMIM:614946
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9839	ZEB2	OMIM:235730
HP:0007364	Aplasia/Hypoplasia of the cerebrum	80232	WDR26	ORPHA:513456
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4010	LMX1B	ORPHA:495818
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6812	STXBP1	ORPHA:495818
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4552	MTRR	ORPHA:2169
HP:0007364	Aplasia/Hypoplasia of the cerebrum	80055	PGAP1	OMIM:615802
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10978	CLP1	OMIM:615803
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10225	CD96	OMIM:211750
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10225	CD96	ORPHA:1308
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6197	RPS6KA3	OMIM:303600
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6197	RPS6KA3	ORPHA:192
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8913	CACNA1G	OMIM:618087
HP:0007364	Aplasia/Hypoplasia of the cerebrum	80204	FBXO11	OMIM:618089
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1509	CTSD	OMIM:610127
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23325	WASHC4	OMIM:615817
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57531	HACE1	ORPHA:464282
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57531	HACE1	OMIM:616756
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7156	TOP3A	OMIM:618097
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1009	CDH11	ORPHA:1299
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54496	PRMT7	ORPHA:464288
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54496	PRMT7	OMIM:617157
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5063	PAK3	OMIM:300558
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10056	FARSB	OMIM:613658
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54499	TMCO1	OMIM:213980
HP:0007364	Aplasia/Hypoplasia of the cerebrum	440138	ALG11	OMIM:613661
HP:0007364	Aplasia/Hypoplasia of the cerebrum	440138	ALG11	ORPHA:280071
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3708	ITPR1	OMIM:117360
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5422	POLA1	ORPHA:163976
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5422	POLA1	OMIM:301030
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55275	VPS53	OMIM:615851
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51067	YARS2	ORPHA:2598
HP:0007364	Aplasia/Hypoplasia of the cerebrum	28962	OSTM1	OMIM:259720
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79228	THOC6	OMIM:613680
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2033	EP300	OMIM:613684
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2033	EP300	OMIM:180849
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5830	PEX5	OMIM:616716
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5830	PEX5	ORPHA:912
HP:0007364	Aplasia/Hypoplasia of the cerebrum	219285	SAMD9L	ORPHA:2585
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84181	CHD6	ORPHA:2108
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2245	FGD1	OMIM:305400
HP:0007364	Aplasia/Hypoplasia of the cerebrum	27238	GPKOW	ORPHA:2570
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5648	MASP1	OMIM:257920
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79796	ALG9	OMIM:608776
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79796	ALG9	OMIM:263210
HP:0007364	Aplasia/Hypoplasia of the cerebrum	26115	TANC2	OMIM:618906
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55593	OTUD5	OMIM:301056
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5160	PDHA1	OMIM:312170
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5160	PDHA1	ORPHA:79243
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54101	RIPK4	ORPHA:1234
HP:0007364	Aplasia/Hypoplasia of the cerebrum	50	ACO2	OMIM:614559
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10982	MAPRE2	OMIM:616734
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10982	MAPRE2	ORPHA:2505
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3176	HNMT	OMIM:616739
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4131	MAP1B	OMIM:618918
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1778	DYNC1H1	OMIM:614563
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3796	KIF2A	OMIM:615411
HP:0007364	Aplasia/Hypoplasia of the cerebrum	80746	TSEN2	OMIM:612389
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1911	PHC1	OMIM:615414
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1911	PHC1	ORPHA:2512
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3759	KCNJ2	OMIM:170390
HP:0007364	Aplasia/Hypoplasia of the cerebrum	100506658	OCLN	ORPHA:1229
HP:0007364	Aplasia/Hypoplasia of the cerebrum	100506658	OCLN	OMIM:251290
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8318	CDC45	ORPHA:2554
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54539	NDUFB11	ORPHA:2556
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54539	NDUFB11	ORPHA:2609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54539	NDUFB11	OMIM:309801
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3052	HCCS	ORPHA:2556
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3052	HCCS	OMIM:309801
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79042	TSEN34	OMIM:612390
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57511	COG6	OMIM:614576
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57511	COG6	OMIM:615328
HP:0007364	Aplasia/Hypoplasia of the cerebrum	83696	TRAPPC9	ORPHA:352530
HP:0007364	Aplasia/Hypoplasia of the cerebrum	29980	DONSON	OMIM:617604
HP:0007364	Aplasia/Hypoplasia of the cerebrum	29980	DONSON	OMIM:251230
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84172	POLR1B	OMIM:618939
HP:0007364	Aplasia/Hypoplasia of the cerebrum	60	ACTB	OMIM:243310
HP:0007364	Aplasia/Hypoplasia of the cerebrum	60	ACTB	ORPHA:2995
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6878	TAF6	ORPHA:199
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6878	TAF6	OMIM:617126
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9997	SCO2	OMIM:604377
HP:0007364	Aplasia/Hypoplasia of the cerebrum	157680	VPS13B	ORPHA:193
HP:0007364	Aplasia/Hypoplasia of the cerebrum	157680	VPS13B	OMIM:216550
HP:0007364	Aplasia/Hypoplasia of the cerebrum	81689	ISCA1	OMIM:617613
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1861	TOR1A	OMIM:618947
HP:0007364	Aplasia/Hypoplasia of the cerebrum	998	CDC42	ORPHA:487796
HP:0007364	Aplasia/Hypoplasia of the cerebrum	64857	PLEKHG2	OMIM:616763
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51520	LARS1	OMIM:615438
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4329	ALDH6A1	OMIM:614105
HP:0007364	Aplasia/Hypoplasia of the cerebrum	25914	RTTN	ORPHA:468631
HP:0007364	Aplasia/Hypoplasia of the cerebrum	25914	RTTN	OMIM:614833
HP:0007364	Aplasia/Hypoplasia of the cerebrum	80781	COL18A1	OMIM:267750
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7343	UBTF	ORPHA:500180
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55617	TASP1	OMIM:618950
HP:0007364	Aplasia/Hypoplasia of the cerebrum	60528	ELAC2	OMIM:615440
HP:0007364	Aplasia/Hypoplasia of the cerebrum	28957	MRPS28	OMIM:618958
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3832	KIF11	ORPHA:2526
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3832	KIF11	OMIM:152950
HP:0007364	Aplasia/Hypoplasia of the cerebrum	259266	ASPM	OMIM:608716
HP:0007364	Aplasia/Hypoplasia of the cerebrum	259266	ASPM	ORPHA:2512
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7991	TUSC3	OMIM:611093
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4763	NF1	ORPHA:139474
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1804	DPP6	ORPHA:2514
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1804	DPP6	OMIM:616311
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8192	CLPP	OMIM:614129
HP:0007364	Aplasia/Hypoplasia of the cerebrum	85378	TUBGCP6	ORPHA:2518
HP:0007364	Aplasia/Hypoplasia of the cerebrum	85378	TUBGCP6	OMIM:251270
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4621	MYH3	ORPHA:2990
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4621	MYH3	OMIM:178110
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4621	MYH3	OMIM:193700
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1146	CHRNG	ORPHA:2990
HP:0007364	Aplasia/Hypoplasia of the cerebrum	128637	TBC1D20	ORPHA:2510
HP:0007364	Aplasia/Hypoplasia of the cerebrum	71	ACTG1	ORPHA:2995
HP:0007364	Aplasia/Hypoplasia of the cerebrum	11113	CIT	ORPHA:2512
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9928	KIF14	ORPHA:2512
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9928	KIF14	OMIM:616258
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9928	KIF14	OMIM:617914
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55262	TRAPPC14	ORPHA:2512
HP:0007364	Aplasia/Hypoplasia of the cerebrum	163786	SASS6	ORPHA:2512
HP:0007364	Aplasia/Hypoplasia of the cerebrum	29920	PYCR2	ORPHA:2512
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4176	MCM7	ORPHA:2512
HP:0007364	Aplasia/Hypoplasia of the cerebrum	80254	CEP63	ORPHA:2512
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79023	NUP37	ORPHA:2512
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23310	NCAPD3	ORPHA:2512
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23310	NCAPD3	OMIM:617984
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79648	MCPH1	ORPHA:2512
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23141	ANKLE2	ORPHA:2512
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7453	WARS1	ORPHA:2512
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9662	CEP135	ORPHA:2512
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57082	KNL1	ORPHA:2512
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1021	CDK6	ORPHA:2512
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8884	SLC5A6	OMIM:618973
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55367	PIDD1	OMIM:619827
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10749	KIF1C	ORPHA:397946
HP:0007364	Aplasia/Hypoplasia of the cerebrum	25915	NDUFAF3	ORPHA:2609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51103	NDUFAF1	ORPHA:2609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	91942	NDUFAF2	ORPHA:2609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51300	TIMMDC1	ORPHA:2609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4716	NDUFB10	ORPHA:2609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4723	NDUFV1	ORPHA:2609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55572	FOXRED1	ORPHA:2609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	284184	NDUFAF8	ORPHA:2609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55863	TMEM126B	ORPHA:2609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4535	MT-ND1	ORPHA:2609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4537	MT-ND3	ORPHA:2609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4694	NDUFA1	ORPHA:2609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4720	NDUFS2	ORPHA:2609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4726	NDUFS6	ORPHA:2609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4728	NDUFS8	ORPHA:2609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4722	NDUFS3	ORPHA:2609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79133	NDUFAF5	ORPHA:2609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	126328	NDUFA11	ORPHA:2609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4709	NDUFB3	ORPHA:2609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	80224	NUBPL	ORPHA:2609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	29078	NDUFAF4	ORPHA:2609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	374291	NDUFS7	ORPHA:2609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4700	NDUFA6	ORPHA:2609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4536	MT-ND2	ORPHA:2609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4715	NDUFB9	ORPHA:2609
HP:0007364	Aplasia/Hypoplasia of the cerebrum	104	ADARB1	OMIM:618862
HP:0007364	Aplasia/Hypoplasia of the cerebrum	60684	TRAPPC11	OMIM:615356
HP:0007364	Aplasia/Hypoplasia of the cerebrum	60684	TRAPPC11	ORPHA:869
HP:0007364	Aplasia/Hypoplasia of the cerebrum	60684	TRAPPC11	ORPHA:369840
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10973	ASCC3	OMIM:620700
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3020	H3-3A	OMIM:619720
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3021	H3-3B	OMIM:619721
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10300	KATNB1	OMIM:616212
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4056	LTC4S	OMIM:614037
HP:0007364	Aplasia/Hypoplasia of the cerebrum	72	ACTG2	ORPHA:2604
HP:0007364	Aplasia/Hypoplasia of the cerebrum	472	ATM	OMIM:208900
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5610	EIF2AK2	OMIM:618877
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3781	KCNN2	OMIM:619725
HP:0007364	Aplasia/Hypoplasia of the cerebrum	137492	VPS37A	ORPHA:319199
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2590	GALNT2	OMIM:618885
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9698	PUM1	OMIM:620719
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51319	RSRC1	OMIM:618402
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23761	PISD	OMIM:618889
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7020	TFAP2A	OMIM:113620
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55703	POLR3B	OMIM:619742
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5442	POLRMT	OMIM:619743
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4297	KMT2A	ORPHA:319182
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4297	KMT2A	OMIM:605130
HP:0007364	Aplasia/Hypoplasia of the cerebrum	25930	PTPN23	OMIM:618890
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79731	NARS2	OMIM:616239
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55361	PI4K2A	OMIM:620732
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79158	GNPTAB	OMIM:252600
HP:0007364	Aplasia/Hypoplasia of the cerebrum	339983	NAT8L	OMIM:614063
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8879	SGPL1	OMIM:617575
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57282	SLC4A10	OMIM:620746
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8021	NUP214	OMIM:618426
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8364	H4C3	OMIM:619758
HP:0007364	Aplasia/Hypoplasia of the cerebrum	145258	GSC	OMIM:602471
HP:0007364	Aplasia/Hypoplasia of the cerebrum	53335	BCL11A	OMIM:617101
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54487	DGCR8	OMIM:192430
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8214	DGCR6	OMIM:192430
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8220	ESS2	OMIM:192430
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9993	DGCR2	OMIM:192430
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2271	FH	OMIM:606812
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57724	EPG5	OMIM:242840
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23162	MAPK8IP3	OMIM:618443
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10463	SLC30A9	OMIM:617595
HP:0007364	Aplasia/Hypoplasia of the cerebrum	80173	IFT74	OMIM:617119
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10195	ALG3	ORPHA:79321
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10195	ALG3	OMIM:601110
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8295	TRRAP	OMIM:618454
HP:0007364	Aplasia/Hypoplasia of the cerebrum	81570	CLPB	OMIM:616271
HP:0007364	Aplasia/Hypoplasia of the cerebrum	221078	NSUN6	OMIM:620779
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51013	EXOSC1	OMIM:619304
HP:0007364	Aplasia/Hypoplasia of the cerebrum	27145	FILIP1	OMIM:620775
HP:0007364	Aplasia/Hypoplasia of the cerebrum	78987	CRELD1	OMIM:620771
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9900	SV2A	OMIM:620772
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84706	GPT2	OMIM:616281
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84706	GPT2	ORPHA:477673
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54892	NCAPG2	OMIM:618460
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51728	POLR3K	OMIM:619310
HP:0007364	Aplasia/Hypoplasia of the cerebrum	85476	GFM1	OMIM:609060
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79903	NAA60	OMIM:620786
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6650	CAPN15	OMIM:619318
HP:0007364	Aplasia/Hypoplasia of the cerebrum	11267	SNF8	OMIM:620784
HP:0007364	Aplasia/Hypoplasia of the cerebrum	256297	PTF1A	OMIM:609069
HP:0007364	Aplasia/Hypoplasia of the cerebrum	221496	LEMD2	OMIM:619322
HP:0007364	Aplasia/Hypoplasia of the cerebrum	29998	BICRA	OMIM:619325
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8882	ZPR1	OMIM:619321
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10073	SNUPN	OMIM:620793
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84892	POMGNT2	ORPHA:899
HP:0007364	Aplasia/Hypoplasia of the cerebrum	148789	B3GALNT2	ORPHA:899
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1282	COL4A1	ORPHA:899
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10329	RXYLT1	ORPHA:899
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1605	DAG1	ORPHA:899
HP:0007364	Aplasia/Hypoplasia of the cerebrum	11041	B4GAT1	ORPHA:899
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8869	ST3GAL5	OMIM:609056
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23221	RHOBTB2	OMIM:618004
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2530	FUT8	OMIM:618005
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79641	ROGDI	OMIM:226750
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7965	AIMP2	OMIM:618006
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4141	MARS1	OMIM:620323
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3913	LAMB2	OMIM:609049
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1781	DYNC1I2	OMIM:618492
HP:0007364	Aplasia/Hypoplasia of the cerebrum	191	AHCY	ORPHA:88618
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8091	HMGA2	ORPHA:94063
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23592	LEMD3	ORPHA:94063
HP:0007364	Aplasia/Hypoplasia of the cerebrum	26276	VPS33B	OMIM:208085
HP:0007364	Aplasia/Hypoplasia of the cerebrum	372	ARCN1	OMIM:617164
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54681	P4HTM	OMIM:618493
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5283	PIGH	OMIM:618010
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9343	EFTUD2	OMIM:610536
HP:0007364	Aplasia/Hypoplasia of the cerebrum	60386	SLC25A19	ORPHA:99742
HP:0007364	Aplasia/Hypoplasia of the cerebrum	64864	RFX7	OMIM:620330
HP:0007364	Aplasia/Hypoplasia of the cerebrum	668	FOXL2	OMIM:110100
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9791	PTDSS1	OMIM:151050
HP:0007364	Aplasia/Hypoplasia of the cerebrum	37	ACADVL	OMIM:201475
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5281	PIGF	OMIM:619356
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1387	CREBBP	OMIM:180849
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1387	CREBBP	ORPHA:592574
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57514	ARHGAP31	OMIM:100300
HP:0007364	Aplasia/Hypoplasia of the cerebrum	29926	GMPPA	ORPHA:869
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10681	GNB5	OMIM:617182
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79143	MBOAT7	OMIM:617188
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5080	PAX6	ORPHA:893
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7490	WT1	ORPHA:893
HP:0007364	Aplasia/Hypoplasia of the cerebrum	627	BDNF	ORPHA:893
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6904	TBCD	OMIM:617193
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23554	TSPAN12	ORPHA:891
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79797	ZNF408	ORPHA:891
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8322	FZD4	ORPHA:891
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2733	GLE1	OMIM:611890
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2261	FGFR3	ORPHA:85165
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2261	FGFR3	OMIM:610474
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10295	BCKDK	OMIM:614923
HP:0007364	Aplasia/Hypoplasia of the cerebrum	11011	TLK2	OMIM:618050
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5965	RECQL	OMIM:620370
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23040	MYT1L	ORPHA:647799
HP:0007364	Aplasia/Hypoplasia of the cerebrum	267	AMFR	OMIM:620379
HP:0007364	Aplasia/Hypoplasia of the cerebrum	90952	ESAM	OMIM:620371
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4702	NDUFA8	OMIM:619272
HP:0007364	Aplasia/Hypoplasia of the cerebrum	27183	VPS4A	OMIM:619273
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10128	LRPPRC	OMIM:220111
HP:0007364	Aplasia/Hypoplasia of the cerebrum	81555	YIPF5	OMIM:619278
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55532	SLC30A10	ORPHA:309854
HP:0007364	Aplasia/Hypoplasia of the cerebrum	132158	GLYCTK	ORPHA:941
HP:0007364	Aplasia/Hypoplasia of the cerebrum	132158	GLYCTK	OMIM:220120
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8443	GNPAT	OMIM:222765
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9442	MED27	OMIM:619286
HP:0007364	Aplasia/Hypoplasia of the cerebrum	56246	MRAP	OMIM:607398
HP:0007364	Aplasia/Hypoplasia of the cerebrum	64324	NSD1	ORPHA:228415
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1353	COX11	OMIM:620275
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3899	AFF3	OMIM:619297
HP:0007364	Aplasia/Hypoplasia of the cerebrum	36	ACADSB	OMIM:610006
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8546	AP3B1	OMIM:608233
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51199	NIN	OMIM:614851
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51199	NIN	ORPHA:319675
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4338	MOCS2	OMIM:252160
HP:0007364	Aplasia/Hypoplasia of the cerebrum	197257	LDHD	OMIM:245450
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9255	AIMP1	OMIM:260600
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6804	STX1A	ORPHA:904
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7461	CLIP2	ORPHA:904
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84277	DNAJC30	ORPHA:904
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8468	FKBP6	ORPHA:904
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5982	RFC2	ORPHA:904
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2969	GTF2I	ORPHA:904
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3984	LIMK1	ORPHA:904
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9569	GTF2IRD1	ORPHA:904
HP:0007364	Aplasia/Hypoplasia of the cerebrum	155382	VPS37D	ORPHA:904
HP:0007364	Aplasia/Hypoplasia of the cerebrum	155368	METTL27	ORPHA:904
HP:0007364	Aplasia/Hypoplasia of the cerebrum	114049	BUD23	ORPHA:904
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7458	EIF4H	ORPHA:904
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84163	GTF2IRD2	ORPHA:904
HP:0007364	Aplasia/Hypoplasia of the cerebrum	26608	TBL2	ORPHA:904
HP:0007364	Aplasia/Hypoplasia of the cerebrum	653361	NCF1	ORPHA:904
HP:0007364	Aplasia/Hypoplasia of the cerebrum	135886	TMEM270	ORPHA:904
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9031	BAZ1B	ORPHA:904
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5297	PI4KA	ORPHA:98889
HP:0007364	Aplasia/Hypoplasia of the cerebrum	27286	SRPX2	ORPHA:98889
HP:0007364	Aplasia/Hypoplasia of the cerebrum	375748	ERCC6L2	OMIM:615715
HP:0007364	Aplasia/Hypoplasia of the cerebrum	93210	PGAP3	OMIM:615716
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2521	FUS	ORPHA:300605
HP:0007364	Aplasia/Hypoplasia of the cerebrum	80208	SPG11	ORPHA:300605
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10280	SIGMAR1	ORPHA:300605
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10558	SPTLC1	ORPHA:300605
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6628	SNRPB	ORPHA:1393
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6628	SNRPB	OMIM:117650
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5293	PIK3CD	ORPHA:397596
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5295	PIK3R1	ORPHA:397596
HP:0007364	Aplasia/Hypoplasia of the cerebrum	26047	CNTNAP2	OMIM:610042
HP:0007364	Aplasia/Hypoplasia of the cerebrum	162417	NAGS	ORPHA:927
HP:0007364	Aplasia/Hypoplasia of the cerebrum	50628	GEMIN4	OMIM:617913
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5824	PEX19	OMIM:614886
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5824	PEX19	ORPHA:912
HP:0007364	Aplasia/Hypoplasia of the cerebrum	867	CBL	OMIM:613563
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55670	PEX26	ORPHA:912
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5828	PEX2	ORPHA:912
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8504	PEX3	ORPHA:912
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8799	PEX11B	ORPHA:912
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9409	PEX16	ORPHA:912
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5190	PEX6	ORPHA:912
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5189	PEX1	ORPHA:912
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5193	PEX12	ORPHA:912
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5194	PEX13	ORPHA:912
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5195	PEX14	ORPHA:912
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5192	PEX10	ORPHA:912
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7507	XPA	ORPHA:910
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7507	XPA	OMIM:278700
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7508	XPC	ORPHA:910
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1643	DDB2	ORPHA:910
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4173	MCM4	OMIM:609981
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55187	VPS13D	OMIM:607317
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5859	QARS1	OMIM:615760
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10157	AASS	ORPHA:2203
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79631	EFL1	OMIM:617941
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5429	POLH	OMIM:278750
HP:0007364	Aplasia/Hypoplasia of the cerebrum	30008	EFEMP2	OMIM:614437
HP:0007364	Aplasia/Hypoplasia of the cerebrum	101929726	MYMX	ORPHA:1358
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2058	EPRS1	OMIM:617951
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1063	CENPF	OMIM:243605
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9361	LONP1	ORPHA:79243
HP:0007364	Aplasia/Hypoplasia of the cerebrum	20	ABCA2	OMIM:618808
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1729	DIAPH1	OMIM:616632
HP:0007364	Aplasia/Hypoplasia of the cerebrum	175	AGA	OMIM:208400
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6785	ELOVL4	OMIM:614457
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9419	CRIPT	OMIM:615789
HP:0007364	Aplasia/Hypoplasia of the cerebrum	27010	TPK1	OMIM:614458
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2584	GALK1	ORPHA:79237
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7874	USP7	ORPHA:500055
HP:0007364	Aplasia/Hypoplasia of the cerebrum	11019	LIAS	OMIM:614462
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4337	MOCS1	OMIM:252150
HP:0007364	Aplasia/Hypoplasia of the cerebrum	29957	SLC25A24	OMIM:612289
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3704	ITPA	OMIM:616647
HP:0007364	Aplasia/Hypoplasia of the cerebrum	56270	WDR45B	OMIM:617977
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54870	QRICH1	OMIM:617982
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6911	TBX6	ORPHA:1797
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23397	NCAPH	OMIM:617985
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6509	SLC1A4	OMIM:616657
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54676	GTPBP2	OMIM:617988
HP:0007364	Aplasia/Hypoplasia of the cerebrum	158326	FREM1	OMIM:614485
HP:0007364	Aplasia/Hypoplasia of the cerebrum	200205	IBA57	OMIM:615330
HP:0007364	Aplasia/Hypoplasia of the cerebrum	25974	MMACHC	ORPHA:79282
HP:0007364	Aplasia/Hypoplasia of the cerebrum	25974	MMACHC	OMIM:277400
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1807	DPYS	OMIM:222748
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9203	ZMYM3	OMIM:301111
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23133	PHF8	OMIM:300263
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51733	UPB1	OMIM:613161
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23001	WDFY3	OMIM:617520
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79587	CARS2	OMIM:616672
HP:0007364	Aplasia/Hypoplasia of the cerebrum	35	ACADS	ORPHA:26792
HP:0007364	Aplasia/Hypoplasia of the cerebrum	221927	BRAT1	OMIM:614498
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55753	OGDHL	OMIM:619701
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5052	PRDX1	OMIM:277400
HP:0007364	Aplasia/Hypoplasia of the cerebrum	91452	ACBD5	OMIM:618863
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51660	MPC1	OMIM:614741
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51010	EXOSC3	ORPHA:2254
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51010	EXOSC3	OMIM:614678
HP:0007364	Aplasia/Hypoplasia of the cerebrum	91137	SLC25A46	ORPHA:2254
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4190	MDH1	OMIM:618959
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54862	CC2D1A	OMIM:608443
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2891	GRIA2	OMIM:618917
HP:0007364	Aplasia/Hypoplasia of the cerebrum	529	ATP6V1E1	ORPHA:357074
HP:0007364	Aplasia/Hypoplasia of the cerebrum	203190	LGI3	OMIM:620007
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3476	IGBP1	OMIM:300472
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3476	IGBP1	ORPHA:52055
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7528	YY1	ORPHA:506358
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1024	CDK8	OMIM:618748
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23556	PIGN	ORPHA:2059
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10992	SF3B2	OMIM:164210
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2731	GLDC	OMIM:605899
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55112	DYNC2I1	ORPHA:93271
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57560	IFT80	ORPHA:93271
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57539	WDR35	ORPHA:93271
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79659	DYNC2H1	ORPHA:93271
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79659	DYNC2H1	OMIM:613091
HP:0007364	Aplasia/Hypoplasia of the cerebrum	89891	DYNC2I2	ORPHA:93271
HP:0007364	Aplasia/Hypoplasia of the cerebrum	116931	MED12L	OMIM:618872
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4867	NPHP1	ORPHA:220497
HP:0007364	Aplasia/Hypoplasia of the cerebrum	22858	CILK1	OMIM:612651
HP:0007364	Aplasia/Hypoplasia of the cerebrum	26153	KIF26A	OMIM:620156
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2263	FGFR2	ORPHA:87
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2263	FGFR2	OMIM:123790
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2263	FGFR2	OMIM:101200
HP:0007364	Aplasia/Hypoplasia of the cerebrum	83871	RAB34	OMIM:620718
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5173	PDYN	OMIM:610245
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2018	EMX2	OMIM:269160
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9401	RECQL4	OMIM:218600
HP:0007364	Aplasia/Hypoplasia of the cerebrum	22872	SEC31A	OMIM:618651
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57498	KIDINS220	OMIM:619501
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55012	PPP2R3C	OMIM:618419
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51021	MRPS16	OMIM:610498
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9653	HS2ST1	OMIM:619194
HP:0007364	Aplasia/Hypoplasia of the cerebrum	129563	DIS3L2	OMIM:267000
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23512	SUZ12	OMIM:618786
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5626	PROP1	ORPHA:226307
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5626	PROP1	ORPHA:95494
HP:0007364	Aplasia/Hypoplasia of the cerebrum	89884	LHX4	ORPHA:226307
HP:0007364	Aplasia/Hypoplasia of the cerebrum	89884	LHX4	ORPHA:95494
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8022	LHX3	ORPHA:226307
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5449	POU1F1	ORPHA:226307
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5449	POU1F1	ORPHA:95494
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8820	HESX1	ORPHA:226307
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8820	HESX1	ORPHA:95494
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8820	HESX1	OMIM:182230
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8820	HESX1	ORPHA:3157
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4519	MT-CYB	ORPHA:137675
HP:0007364	Aplasia/Hypoplasia of the cerebrum	11128	POLR3A	OMIM:264090
HP:0007364	Aplasia/Hypoplasia of the cerebrum	11128	POLR3A	ORPHA:3455
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6558	SLC12A2	OMIM:619083
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3170	FOXA2	ORPHA:95494
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5015	OTX2	ORPHA:95494
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5015	OTX2	ORPHA:990
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5015	OTX2	ORPHA:3157
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57688	ZSWIM6	OMIM:603671
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57688	ZSWIM6	ORPHA:1827
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2239	GPC4	ORPHA:373
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2239	GPC4	OMIM:312870
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2719	GPC3	ORPHA:373
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2719	GPC3	OMIM:312870
HP:0007364	Aplasia/Hypoplasia of the cerebrum	197258	FCSK	OMIM:618324
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2678	GGT1	OMIM:231950
HP:0007364	Aplasia/Hypoplasia of the cerebrum	64919	BCL11B	OMIM:617237
HP:0007364	Aplasia/Hypoplasia of the cerebrum	11023	VAX1	OMIM:614402
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51645	PPIL1	OMIM:619301
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51362	CDC40	OMIM:619302
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5881	RAC3	OMIM:618577
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55280	CWF19L1	ORPHA:453521
HP:0007364	Aplasia/Hypoplasia of the cerebrum	164	AP1G1	OMIM:619548
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1801	DPH1	ORPHA:459061
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10126	DNAL4	ORPHA:238722
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9423	NTN1	ORPHA:238722
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9423	NTN1	OMIM:157600
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4558	MT-TF	ORPHA:550
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4572	MT-TQ	ORPHA:550
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4512	MT-CO1	ORPHA:550
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4513	MT-CO2	ORPHA:550
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4514	MT-CO3	ORPHA:550
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4578	MT-TW	ORPHA:550
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4540	MT-ND5	ORPHA:550
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4541	MT-ND6	ORPHA:550
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4538	MT-ND4	ORPHA:550
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4567	MT-TL1	ORPHA:550
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4574	MT-TS1	ORPHA:550
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4575	MT-TS2	ORPHA:550
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4564	MT-TH	ORPHA:550
HP:0007364	Aplasia/Hypoplasia of the cerebrum	56896	DPYSL5	OMIM:619435
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2879	GPX4	ORPHA:93317
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5396	PRRX1	OMIM:202650
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5396	PRRX1	ORPHA:990
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51807	TUBA8	ORPHA:250972
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6091	ROBO1	OMIM:620305
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84320	ACBD6	OMIM:620785
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7473	WNT3	ORPHA:3301
HP:0007364	Aplasia/Hypoplasia of the cerebrum	340419	RSPO2	ORPHA:3301
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1436	CSF1R	OMIM:618476
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23030	KDM4B	OMIM:619320
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3313	HSPA9	OMIM:616854
HP:0007364	Aplasia/Hypoplasia of the cerebrum	157922	CAMSAP1	OMIM:620316
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2657	GDF1	OMIM:208530
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1000	CDH2	OMIM:618929
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1583	CYP11A1	ORPHA:289548
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1583	CYP11A1	ORPHA:168558
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7161	TP73	OMIM:619466
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2009	EML1	OMIM:600348
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5395	PMS2	OMIM:619101
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2313	FLI1	ORPHA:2308
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8092	ALX1	ORPHA:306542
HP:0007364	Aplasia/Hypoplasia of the cerebrum	26576	SRPK3	OMIM:301134
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5162	PDHB	ORPHA:255138
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5162	PDHB	OMIM:614111
HP:0007364	Aplasia/Hypoplasia of the cerebrum	113246	C12orf57	OMIM:218340
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4781	NFIB	OMIM:618286
HP:0007364	Aplasia/Hypoplasia of the cerebrum	124454	EARS2	OMIM:614924
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4292	MLH1	OMIM:276300
HP:0007364	Aplasia/Hypoplasia of the cerebrum	18	ABAT	OMIM:613163
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8449	DHX16	OMIM:618733
HP:0007364	Aplasia/Hypoplasia of the cerebrum	128674	PROKR2	ORPHA:3157
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6658	SOX3	ORPHA:3157
HP:0007364	Aplasia/Hypoplasia of the cerebrum	58499	ZNF462	OMIM:618619
HP:0007364	Aplasia/Hypoplasia of the cerebrum	283450	HECTD4	OMIM:620250
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2615	LRRC32	OMIM:619074
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6938	TCF12	OMIM:615314
HP:0007364	Aplasia/Hypoplasia of the cerebrum	139285	AMER1	OMIM:300373
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7143	TNR	OMIM:619653
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4123	MAN2C1	OMIM:619775
HP:0007364	Aplasia/Hypoplasia of the cerebrum	29899	GPSM2	OMIM:604213
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8036	SHOC2	OMIM:607721
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10617	STAMBP	OMIM:614261
HP:0007364	Aplasia/Hypoplasia of the cerebrum	343450	KCNT2	OMIM:617771
HP:0007364	Aplasia/Hypoplasia of the cerebrum	27247	NFU1	OMIM:620938
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10159	ATP6AP2	ORPHA:93952
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10159	ATP6AP2	OMIM:300423
HP:0007364	Aplasia/Hypoplasia of the cerebrum	27245	AHDC1	ORPHA:412069
HP:0007364	Aplasia/Hypoplasia of the cerebrum	27245	AHDC1	OMIM:615829
HP:0007364	Aplasia/Hypoplasia of the cerebrum	375387	NRROS	OMIM:618875
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6844	VAMP2	OMIM:618760
HP:0007364	Aplasia/Hypoplasia of the cerebrum	11232	POLG2	OMIM:618528
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23327	NEDD4L	OMIM:617201
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57178	ZMIZ1	OMIM:618659
HP:0007364	Aplasia/Hypoplasia of the cerebrum	26040	SETBP1	OMIM:269150
HP:0007364	Aplasia/Hypoplasia of the cerebrum	26040	SETBP1	ORPHA:798
HP:0007364	Aplasia/Hypoplasia of the cerebrum	113612	CYP2U1	OMIM:615030
HP:0007364	Aplasia/Hypoplasia of the cerebrum	113612	CYP2U1	ORPHA:320411
HP:0007364	Aplasia/Hypoplasia of the cerebrum	91574	MTRFR	OMIM:615035
HP:0007364	Aplasia/Hypoplasia of the cerebrum	91574	MTRFR	ORPHA:320375
HP:0007364	Aplasia/Hypoplasia of the cerebrum	91574	MTRFR	ORPHA:254930
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84504	NKX6-2	ORPHA:527497
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23259	DDHD2	OMIM:615033
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23259	DDHD2	ORPHA:320380
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7531	YWHAE	ORPHA:217385
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7531	YWHAE	ORPHA:531
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3098	HK1	OMIM:618547
HP:0007364	Aplasia/Hypoplasia of the cerebrum	26137	ZBTB20	OMIM:259050
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9533	POLR1C	OMIM:616494
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1615	DARS1	OMIM:615281
HP:0007364	Aplasia/Hypoplasia of the cerebrum	253959	RALGAPA1	OMIM:618797
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51098	IFT52	OMIM:617102
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4849	CNOT3	OMIM:618672
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7841	MOGS	ORPHA:79330
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7841	MOGS	OMIM:606056
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4208	MEF2C	ORPHA:228384
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51062	ATL1	OMIM:182600
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79087	ALG12	ORPHA:79324
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79053	ALG8	ORPHA:79325
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7040	TGFB1	OMIM:618213
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9488	PIGB	OMIM:618580
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3912	LAMB1	OMIM:615191
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10765	KDM5B	OMIM:618109
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2671	GFER	ORPHA:330054
HP:0007364	Aplasia/Hypoplasia of the cerebrum	11160	ERLIN2	ORPHA:209951
HP:0007364	Aplasia/Hypoplasia of the cerebrum	11160	ERLIN2	OMIM:611225
HP:0007364	Aplasia/Hypoplasia of the cerebrum	128869	PIGU	OMIM:618590
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5631	PRPS1	ORPHA:423479
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6651	SON	OMIM:617140
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6651	SON	ORPHA:500150
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8312	AXIN1	OMIM:620558
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5660	PSAP	OMIM:611721
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2560	GABRB1	OMIM:617153
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51324	SPG21	ORPHA:101001
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9758	FRMPD4	OMIM:300983
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1822	ATN1	OMIM:618494
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5332	PLCB4	OMIM:620458
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8883	NAE1	OMIM:620210
HP:0007364	Aplasia/Hypoplasia of the cerebrum	50801	KCNK4	OMIM:618381
HP:0007364	Aplasia/Hypoplasia of the cerebrum	11340	EXOSC8	OMIM:616081
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2892	GRIA3	ORPHA:364028
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51091	SEPSECS	OMIM:613811
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51091	SEPSECS	ORPHA:2524
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2571	GAD1	OMIM:619124
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2222	FDFT1	OMIM:618156
HP:0007364	Aplasia/Hypoplasia of the cerebrum	285590	SH3PXD2B	OMIM:249420
HP:0007364	Aplasia/Hypoplasia of the cerebrum	374354	NHLRC2	OMIM:618278
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8239	USP9X	OMIM:300968
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8239	USP9X	ORPHA:480880
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79152	FA2H	ORPHA:171629
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79152	FA2H	ORPHA:329308
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79152	FA2H	OMIM:612319
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8911	CACNA1I	OMIM:620114
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3090	HIC1	ORPHA:531
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55005	RMND1	OMIM:614922
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23299	BICD2	OMIM:618291
HP:0007364	Aplasia/Hypoplasia of the cerebrum	64802	NMNAT1	OMIM:619260
HP:0007364	Aplasia/Hypoplasia of the cerebrum	129285	PPP1R21	OMIM:619383
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2316	FLNA	ORPHA:555877
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2316	FLNA	OMIM:300049
HP:0007364	Aplasia/Hypoplasia of the cerebrum	27445	PCLO	OMIM:608027
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10682	EBP	ORPHA:401973
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6095	RORA	OMIM:618060
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9131	AIFM1	OMIM:300232
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9131	AIFM1	ORPHA:83629
HP:0007364	Aplasia/Hypoplasia of the cerebrum	347734	SLC35B2	OMIM:620269
HP:0007364	Aplasia/Hypoplasia of the cerebrum	80222	TARS2	OMIM:615918
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54209	TREM2	OMIM:618193
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55780	ERMARD	ORPHA:75857
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55157	DARS2	ORPHA:137898
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10000	AKT3	OMIM:615937
HP:0007364	Aplasia/Hypoplasia of the cerebrum	501	ALDH7A1	ORPHA:3006
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23400	ATP13A2	ORPHA:513436
HP:0007364	Aplasia/Hypoplasia of the cerebrum	80856	LNPK	OMIM:618090
HP:0007364	Aplasia/Hypoplasia of the cerebrum	26278	SACS	ORPHA:98
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2752	GLUL	OMIM:610015
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9907	AP5Z1	OMIM:613647
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9907	AP5Z1	ORPHA:306511
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7025	NR2F1	ORPHA:401777
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1267	CNP	OMIM:619071
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79753	SNIP1	OMIM:614501
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23503	ZFYVE26	OMIM:270700
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23503	ZFYVE26	ORPHA:100996
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4094	MAF	ORPHA:1272
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51244	CCDC174	OMIM:616816
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51322	WAC	ORPHA:284169
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51322	WAC	OMIM:616708
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57704	GBA2	OMIM:614409
HP:0007364	Aplasia/Hypoplasia of the cerebrum	200403	VWA3B	OMIM:616948
HP:0007364	Aplasia/Hypoplasia of the cerebrum	85021	REPS1	OMIM:617916
HP:0007364	Aplasia/Hypoplasia of the cerebrum	85440	DOCK7	OMIM:615859
HP:0007364	Aplasia/Hypoplasia of the cerebrum	85440	DOCK7	ORPHA:411986
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57165	GJC2	OMIM:613206
HP:0007364	Aplasia/Hypoplasia of the cerebrum	11020	IFT27	OMIM:615996
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23028	KDM1A	OMIM:616728
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23028	KDM1A	ORPHA:477993
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23291	FBXW11	OMIM:618914
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7280	TUBB2A	OMIM:615763
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51218	GLRX5	OMIM:616859
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54664	TMEM106B	OMIM:617964
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2475	MTOR	OMIM:616638
HP:0007364	Aplasia/Hypoplasia of the cerebrum	340075	ARSI	ORPHA:401815
HP:0007364	Aplasia/Hypoplasia of the cerebrum	122553	TRAPPC6B	OMIM:617862
HP:0007364	Aplasia/Hypoplasia of the cerebrum	116461	TSEN15	ORPHA:2524
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55704	CCDC88A	OMIM:617507
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5296	PIK3R2	OMIM:603387
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4841	NONO	ORPHA:466791
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5455	POU3F3	OMIM:618604
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2806	GOT2	OMIM:618721
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51663	ZFR	ORPHA:401840
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1468	SLC25A10	OMIM:618972
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5307	PITX1	OMIM:119800
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7305	TYROBP	OMIM:221770
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55331	ACER3	OMIM:617762
HP:0007364	Aplasia/Hypoplasia of the cerebrum	22978	NT5C2	OMIM:613162
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7543	ZFX	OMIM:301118
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10844	TUBGCP2	OMIM:618737
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4858	NOVA2	OMIM:618859
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84148	KAT8	OMIM:618974
HP:0007364	Aplasia/Hypoplasia of the cerebrum	81788	NUAK2	OMIM:619452
HP:0007364	Aplasia/Hypoplasia of the cerebrum	374654	KIF7	OMIM:614120
HP:0007364	Aplasia/Hypoplasia of the cerebrum	374654	KIF7	ORPHA:2189
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9786	KIAA0586	OMIM:616546
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6347	CCL2	OMIM:182940
HP:0007364	Aplasia/Hypoplasia of the cerebrum	81839	VANGL1	OMIM:182940
HP:0007364	Aplasia/Hypoplasia of the cerebrum	80199	FUZ	OMIM:182940
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6862	TBXT	OMIM:182940
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57216	VANGL2	OMIM:182940
HP:0007364	Aplasia/Hypoplasia of the cerebrum	219844	HYLS1	OMIM:236680
HP:0007364	Aplasia/Hypoplasia of the cerebrum	219844	HYLS1	ORPHA:2189
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3239	HOXD13	ORPHA:887
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55521	TRIM36	OMIM:206500
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51339	DACT1	ORPHA:63260
HP:0007364	Aplasia/Hypoplasia of the cerebrum	124997	WDR81	OMIM:617967
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6913	TBX15	OMIM:260660
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55165	CEP55	OMIM:236500
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1967	EIF2B1	OMIM:603896
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57194	ATP10A	ORPHA:411515
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9853	RUSC2	OMIM:617773
HP:0007364	Aplasia/Hypoplasia of the cerebrum	83700	JAM3	OMIM:613730
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2653	GCSH	OMIM:620423
HP:0007364	Aplasia/Hypoplasia of the cerebrum	53616	ADAM22	OMIM:617933
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6571	SLC18A2	ORPHA:352649
HP:0007364	Aplasia/Hypoplasia of the cerebrum	22854	NTNG1	ORPHA:3095
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55610	VPS50	OMIM:619685
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51506	UFC1	OMIM:618076
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6392	SDHD	OMIM:619167
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9915	ARNT2	OMIM:615926
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5048	PAFAH1B1	OMIM:607432
HP:0007364	Aplasia/Hypoplasia of the cerebrum	271	AMPD2	OMIM:615809
HP:0007364	Aplasia/Hypoplasia of the cerebrum	79068	FTO	OMIM:612938
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7337	UBE3A	ORPHA:98794
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7337	UBE3A	ORPHA:98795
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7337	UBE3A	OMIM:105830
HP:0007364	Aplasia/Hypoplasia of the cerebrum	7337	UBE3A	ORPHA:411511
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4948	OCA2	ORPHA:98794
HP:0007364	Aplasia/Hypoplasia of the cerebrum	22796	COG2	OMIM:617395
HP:0007364	Aplasia/Hypoplasia of the cerebrum	22796	COG2	ORPHA:435934
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9512	PMPCB	OMIM:617954
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5119	CHMP1A	OMIM:614961
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9692	PRORP	OMIM:619737
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54543	TOMM7	OMIM:620601
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8560	DEGS1	OMIM:618404
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55858	TMEM165	OMIM:614727
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54675	CRLS1	OMIM:620167
HP:0007364	Aplasia/Hypoplasia of the cerebrum	22845	DOLK	OMIM:610768
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8604	SLC25A12	OMIM:612949
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10087	CERT1	OMIM:616351
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51651	PTRH2	ORPHA:456312
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51651	PTRH2	OMIM:616263
HP:0007364	Aplasia/Hypoplasia of the cerebrum	22884	WDR37	OMIM:618652
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2903	GRIN2A	ORPHA:289266
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3188	HNRNPH2	OMIM:300986
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23065	EMC1	OMIM:616875
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1641	DCX	ORPHA:2148
HP:0007364	Aplasia/Hypoplasia of the cerebrum	11212	PLPBP	OMIM:617290
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51501	HIKESHI	OMIM:616881
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4659	PPP1R12A	OMIM:618820
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10236	HNRNPR	OMIM:620073
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8818	DPM2	OMIM:615042
HP:0007364	Aplasia/Hypoplasia of the cerebrum	56947	MFF	ORPHA:485421
HP:0007364	Aplasia/Hypoplasia of the cerebrum	56947	MFF	OMIM:617086
HP:0007364	Aplasia/Hypoplasia of the cerebrum	539	ATP5PO	OMIM:620359
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9440	MED17	OMIM:613668
HP:0007364	Aplasia/Hypoplasia of the cerebrum	118924	FRA10AC1	OMIM:620113
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8813	DPM1	OMIM:608799
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8813	DPM1	ORPHA:79322
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5538	PPT1	OMIM:256730
HP:0007364	Aplasia/Hypoplasia of the cerebrum	125988	MICOS13	OMIM:618329
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1719	DHFR	OMIM:613839
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10079	ATP9A	OMIM:620242
HP:0007364	Aplasia/Hypoplasia of the cerebrum	205327	C2orf69	OMIM:619423
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1496	CTNNA2	OMIM:618174
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51693	TRAPPC2L	OMIM:618331
HP:0007364	Aplasia/Hypoplasia of the cerebrum	57017	COQ9	OMIM:614654
HP:0007364	Aplasia/Hypoplasia of the cerebrum	27429	HTRA2	OMIM:617248
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3329	HSPD1	OMIM:612233
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5908	RAP1B	OMIM:620654
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55770	EXOC2	OMIM:619306
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2744	GLS	OMIM:618339
HP:0007364	Aplasia/Hypoplasia of the cerebrum	80347	COASY	OMIM:618266
HP:0007364	Aplasia/Hypoplasia of the cerebrum	476	ATP1A1	ORPHA:564178
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3295	HSD17B4	OMIM:261515
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23229	ARHGEF9	ORPHA:163985
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23229	ARHGEF9	OMIM:300607
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9851	KIAA0753	ORPHA:475
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9851	KIAA0753	ORPHA:2754
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5147	PDE6D	ORPHA:475
HP:0007364	Aplasia/Hypoplasia of the cerebrum	5147	PDE6D	ORPHA:2754
HP:0007364	Aplasia/Hypoplasia of the cerebrum	54806	AHI1	ORPHA:475
HP:0007364	Aplasia/Hypoplasia of the cerebrum	153241	CEP120	ORPHA:475
HP:0007364	Aplasia/Hypoplasia of the cerebrum	65250	CPLANE1	ORPHA:475
HP:0007364	Aplasia/Hypoplasia of the cerebrum	65250	CPLANE1	ORPHA:2754
HP:0007364	Aplasia/Hypoplasia of the cerebrum	200894	ARL13B	ORPHA:475
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9731	CEP104	ORPHA:475
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23247	KATNIP	ORPHA:475
HP:0007364	Aplasia/Hypoplasia of the cerebrum	219854	TMEM218	ORPHA:475
HP:0007364	Aplasia/Hypoplasia of the cerebrum	95681	CEP41	ORPHA:475
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10464	PIBF1	ORPHA:475
HP:0007364	Aplasia/Hypoplasia of the cerebrum	80210	ARMC9	ORPHA:475
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23116	TOGARAM1	ORPHA:475
HP:0007364	Aplasia/Hypoplasia of the cerebrum	25776	CBY1	ORPHA:475
HP:0007364	Aplasia/Hypoplasia of the cerebrum	403	ARL3	ORPHA:475
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3265	HRAS	ORPHA:2612
HP:0007364	Aplasia/Hypoplasia of the cerebrum	3845	KRAS	ORPHA:2612
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4893	NRAS	ORPHA:2612
HP:0007364	Aplasia/Hypoplasia of the cerebrum	64327	LMBR1	ORPHA:2378
HP:0007364	Aplasia/Hypoplasia of the cerebrum	673	BRAF	OMIM:115150
HP:0007364	Aplasia/Hypoplasia of the cerebrum	95	ACY1	ORPHA:137754
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10297	APC2	ORPHA:821
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4036	LRP2	OMIM:222448
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4036	LRP2	ORPHA:2143
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2737	GLI3	ORPHA:36
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4774	NFIA	ORPHA:401986
HP:0007364	Aplasia/Hypoplasia of the cerebrum	26275	HIBCH	ORPHA:88639
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51715	RAB23	OMIM:201000
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84162	BLTP1	OMIM:617822
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51114	ZDHHC9	ORPHA:776
HP:0007364	Aplasia/Hypoplasia of the cerebrum	65109	UPF3B	ORPHA:776
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51524	TMEM138	ORPHA:2318
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23090	ZNF423	ORPHA:2318
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10210	TOPORS	ORPHA:2754
HP:0007364	Aplasia/Hypoplasia of the cerebrum	317662	FAM149B1	ORPHA:2754
HP:0007364	Aplasia/Hypoplasia of the cerebrum	257	ALX3	ORPHA:391474
HP:0007364	Aplasia/Hypoplasia of the cerebrum	91949	COG7	OMIM:608779
HP:0007364	Aplasia/Hypoplasia of the cerebrum	91949	COG7	ORPHA:79333
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8405	SPOP	OMIM:618828
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51124	IER3IP1	OMIM:614231
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9918	NCAPD2	OMIM:617983
HP:0007364	Aplasia/Hypoplasia of the cerebrum	8320	EOMES	ORPHA:171703
HP:0007364	Aplasia/Hypoplasia of the cerebrum	1984	EIF5A	OMIM:619376
HP:0007364	Aplasia/Hypoplasia of the cerebrum	23511	NUP188	OMIM:618804
HP:0007364	Aplasia/Hypoplasia of the cerebrum	85459	CEP295	OMIM:620767
HP:0007364	Aplasia/Hypoplasia of the cerebrum	51294	PCDH12	OMIM:251280
HP:0007364	Aplasia/Hypoplasia of the cerebrum	10015	PDCD6IP	OMIM:620047
HP:0007364	Aplasia/Hypoplasia of the cerebrum	6045	RNF2	OMIM:619460
HP:0007364	Aplasia/Hypoplasia of the cerebrum	84823	LMNB2	OMIM:619180
HP:0007364	Aplasia/Hypoplasia of the cerebrum	55697	VAC14	ORPHA:3472
HP:0007364	Aplasia/Hypoplasia of the cerebrum	4905	NSF	OMIM:619340
HP:0007364	Aplasia/Hypoplasia of the cerebrum	9181	ARHGEF2	OMIM:617523
HP:0007364	Aplasia/Hypoplasia of the cerebrum	2639	GCDH	ORPHA:25
HP:0012660	Thalamic hypometabolism in FDG PET	5621	PRNP	ORPHA:466
HP:0012662	Parietal hypometabolism in FDG PET	5664	PSEN2	OMIM:606889
HP:0012662	Parietal hypometabolism in FDG PET	348	APOE	OMIM:606889
HP:0012663	Mildly reduced left ventricular ejection fraction	3759	KCNJ2	OMIM:609622
HP:0012663	Mildly reduced left ventricular ejection fraction	7156	TOP3A	OMIM:618098
HP:0012664	Reduced left ventricular ejection fraction	3759	KCNJ2	OMIM:609622
HP:0012664	Reduced left ventricular ejection fraction	7156	TOP3A	OMIM:618098
HP:0012664	Reduced left ventricular ejection fraction	291	SLC25A4	ORPHA:254892
HP:0012664	Reduced left ventricular ejection fraction	5428	POLG	ORPHA:254892
HP:0012664	Reduced left ventricular ejection fraction	56652	TWNK	ORPHA:254892
HP:0012664	Reduced left ventricular ejection fraction	11232	POLG2	ORPHA:254892
HP:0012664	Reduced left ventricular ejection fraction	50484	RRM2B	ORPHA:254892
HP:0012664	Reduced left ventricular ejection fraction	79717	PPCS	OMIM:618189
HP:0012664	Reduced left ventricular ejection fraction	37	ACADVL	OMIM:201475
HP:0012664	Reduced left ventricular ejection fraction	4607	MYBPC3	OMIM:115197
HP:0012664	Reduced left ventricular ejection fraction	4624	MYH6	OMIM:613252
HP:0012664	Reduced left ventricular ejection fraction	5664	PSEN2	OMIM:613697
HP:0012664	Reduced left ventricular ejection fraction	4878	NPPA	OMIM:612201
HP:0012664	Reduced left ventricular ejection fraction	4878	NPPA	ORPHA:1344
HP:0012664	Reduced left ventricular ejection fraction	3910	LAMA4	OMIM:615235
HP:0012664	Reduced left ventricular ejection fraction	7139	TNNT2	OMIM:115195
HP:0012664	Reduced left ventricular ejection fraction	7139	TNNT2	OMIM:601494
HP:0012664	Reduced left ventricular ejection fraction	7139	TNNT2	OMIM:612422
HP:0012664	Reduced left ventricular ejection fraction	5894	RAF1	OMIM:615916
HP:0012664	Reduced left ventricular ejection fraction	8048	CSRP3	OMIM:607482
HP:0012664	Reduced left ventricular ejection fraction	4000	LMNA	OMIM:181350
HP:0012664	Reduced left ventricular ejection fraction	8291	DYSF	ORPHA:268
HP:0012664	Reduced left ventricular ejection fraction	1674	DES	OMIM:604765
HP:0012664	Reduced left ventricular ejection fraction	80206	FHOD3	OMIM:619402
HP:0012664	Reduced left ventricular ejection fraction	368	ABCC6	OMIM:614473
HP:0012664	Reduced left ventricular ejection fraction	57798	GATAD1	OMIM:614672
HP:0012664	Reduced left ventricular ejection fraction	7276	TTR	ORPHA:85451
HP:0012664	Reduced left ventricular ejection fraction	4625	MYH7	OMIM:613426
HP:0012664	Reduced left ventricular ejection fraction	3908	LAMA2	ORPHA:258
HP:0012664	Reduced left ventricular ejection fraction	7414	VCL	OMIM:611407
HP:0012664	Reduced left ventricular ejection fraction	58528	RRAGD	OMIM:620152
HP:0012664	Reduced left ventricular ejection fraction	6123	RPL3L	OMIM:619371
HP:0012664	Reduced left ventricular ejection fraction	388753	COA6	OMIM:616501
HP:0012664	Reduced left ventricular ejection fraction	2702	GJA5	OMIM:614049
HP:0012664	Reduced left ventricular ejection fraction	6331	SCN5A	ORPHA:1344
HP:0012664	Reduced left ventricular ejection fraction	6331	SCN5A	OMIM:601154
HP:0012664	Reduced left ventricular ejection fraction	439	GET3	OMIM:620203
HP:0012664	Reduced left ventricular ejection fraction	7716	VEZF1	OMIM:620247
HP:0012664	Reduced left ventricular ejection fraction	91624	NEXN	OMIM:613876
HP:0012664	Reduced left ventricular ejection fraction	91624	NEXN	OMIM:613122
HP:0012664	Reduced left ventricular ejection fraction	2218	FKTN	OMIM:611615
HP:0012664	Reduced left ventricular ejection fraction	4634	MYL3	OMIM:608751
HP:0012664	Reduced left ventricular ejection fraction	51778	MYOZ2	OMIM:613838
HP:0012664	Reduced left ventricular ejection fraction	57505	AARS2	OMIM:614096
HP:0012664	Reduced left ventricular ejection fraction	3762	KCNJ5	OMIM:613485
HP:0012664	Reduced left ventricular ejection fraction	7134	TNNC1	OMIM:613243
HP:0012664	Reduced left ventricular ejection fraction	6389	SDHA	OMIM:613642
HP:0012664	Reduced left ventricular ejection fraction	10699	CORIN	OMIM:620734
HP:0012664	Reduced left ventricular ejection fraction	7273	TTN	OMIM:604145
HP:0012664	Reduced left ventricular ejection fraction	6444	SGCD	OMIM:606685
HP:0012664	Reduced left ventricular ejection fraction	567	B2M	ORPHA:314652
HP:0012664	Reduced left ventricular ejection fraction	1410	CRYAB	OMIM:615184
HP:0012664	Reduced left ventricular ejection fraction	3920	LAMP2	OMIM:300257
HP:0012664	Reduced left ventricular ejection fraction	442721	LMOD2	OMIM:619897
HP:0012664	Reduced left ventricular ejection fraction	64121	RRAGC	OMIM:620609
HP:0012664	Reduced left ventricular ejection fraction	51117	COQ4	OMIM:616276
HP:0012664	Reduced left ventricular ejection fraction	7137	TNNI3	OMIM:613286
HP:0012664	Reduced left ventricular ejection fraction	5663	PSEN1	OMIM:613694
HP:0012664	Reduced left ventricular ejection fraction	2314	FLII	OMIM:620635
HP:0012664	Reduced left ventricular ejection fraction	54148	MRPL39	OMIM:620646
HP:0012664	Reduced left ventricular ejection fraction	9529	BAG5	OMIM:619747
HP:0012664	Reduced left ventricular ejection fraction	79158	GNPTAB	OMIM:252600
HP:0012664	Reduced left ventricular ejection fraction	1829	DSG2	OMIM:612877
HP:0012664	Reduced left ventricular ejection fraction	84705	GTPBP3	ORPHA:444013
HP:0012664	Reduced left ventricular ejection fraction	10486	CAP2	OMIM:620462
HP:0012665	Moderately reduced left ventricular ejection fraction	1410	CRYAB	OMIM:615184
HP:0012666	Severely reduced left ventricular ejection fraction	3920	LAMP2	OMIM:300257
HP:0012666	Severely reduced left ventricular ejection fraction	442721	LMOD2	OMIM:619897
HP:0012666	Severely reduced left ventricular ejection fraction	4624	MYH6	OMIM:613251
HP:0012666	Severely reduced left ventricular ejection fraction	64121	RRAGC	OMIM:620609
HP:0012666	Severely reduced left ventricular ejection fraction	51117	COQ4	OMIM:616276
HP:0012666	Severely reduced left ventricular ejection fraction	7137	TNNI3	OMIM:613286
HP:0012666	Severely reduced left ventricular ejection fraction	5663	PSEN1	OMIM:613694
HP:0012666	Severely reduced left ventricular ejection fraction	2314	FLII	OMIM:620635
HP:0012666	Severely reduced left ventricular ejection fraction	54148	MRPL39	OMIM:620646
HP:0012666	Severely reduced left ventricular ejection fraction	9529	BAG5	OMIM:619747
HP:0012666	Severely reduced left ventricular ejection fraction	79158	GNPTAB	OMIM:252600
HP:0012666	Severely reduced left ventricular ejection fraction	1829	DSG2	OMIM:612877
HP:0012666	Severely reduced left ventricular ejection fraction	7273	TTN	OMIM:611705
HP:0012666	Severely reduced left ventricular ejection fraction	84705	GTPBP3	ORPHA:444013
HP:0012666	Severely reduced left ventricular ejection fraction	10486	CAP2	OMIM:620462
HP:0007365	Aplasia/Hypoplasia involving the corticospinal tracts	5162	PDHB	ORPHA:255138
HP:0007365	Aplasia/Hypoplasia involving the corticospinal tracts	3897	L1CAM	OMIM:307000
HP:0007366	Atrophy/Degeneration affecting the brainstem	10059	DNM1L	ORPHA:98673
HP:0007366	Atrophy/Degeneration affecting the brainstem	4976	OPA1	ORPHA:98673
HP:0007366	Atrophy/Degeneration affecting the brainstem	6904	TBCD	OMIM:617193
HP:0007366	Atrophy/Degeneration affecting the brainstem	535	ATP6V0A1	OMIM:619971
HP:0007366	Atrophy/Degeneration affecting the brainstem	10466	COG5	ORPHA:263487
HP:0007366	Atrophy/Degeneration affecting the brainstem	10466	COG5	OMIM:613612
HP:0007366	Atrophy/Degeneration affecting the brainstem	84340	GFM2	ORPHA:565624
HP:0007366	Atrophy/Degeneration affecting the brainstem	2775	GNAO1	OMIM:617493
HP:0007366	Atrophy/Degeneration affecting the brainstem	8913	CACNA1G	ORPHA:458803
HP:0007366	Atrophy/Degeneration affecting the brainstem	11284	PNKP	OMIM:616267
HP:0007366	Atrophy/Degeneration affecting the brainstem	23345	SYNE1	ORPHA:88644
HP:0007366	Atrophy/Degeneration affecting the brainstem	9512	PMPCB	OMIM:617954
HP:0007366	Atrophy/Degeneration affecting the brainstem	6709	SPTAN1	OMIM:613477
HP:0007366	Atrophy/Degeneration affecting the brainstem	131118	DNAJC19	ORPHA:66634
HP:0007366	Atrophy/Degeneration affecting the brainstem	9326	ZNHIT3	ORPHA:2836
HP:0007366	Atrophy/Degeneration affecting the brainstem	7355	SLC35A2	ORPHA:356961
HP:0007366	Atrophy/Degeneration affecting the brainstem	8560	DEGS1	OMIM:618404
HP:0007366	Atrophy/Degeneration affecting the brainstem	1786	DNMT1	ORPHA:314404
HP:0007366	Atrophy/Degeneration affecting the brainstem	90624	LYRM7	OMIM:615838
HP:0007366	Atrophy/Degeneration affecting the brainstem	60481	ELOVL5	OMIM:615957
HP:0007366	Atrophy/Degeneration affecting the brainstem	10667	FARS2	OMIM:614946
HP:0007366	Atrophy/Degeneration affecting the brainstem	51608	GET4	OMIM:620200
HP:0007366	Atrophy/Degeneration affecting the brainstem	5611	DNAJC3	OMIM:616192
HP:0007366	Atrophy/Degeneration affecting the brainstem	5611	DNAJC3	ORPHA:445062
HP:0007366	Atrophy/Degeneration affecting the brainstem	10715	CERS1	OMIM:616230
HP:0007366	Atrophy/Degeneration affecting the brainstem	10935	PRDX3	OMIM:619862
HP:0007366	Atrophy/Degeneration affecting the brainstem	8295	TRRAP	OMIM:618454
HP:0007366	Atrophy/Degeneration affecting the brainstem	122553	TRAPPC6B	OMIM:617862
HP:0007366	Atrophy/Degeneration affecting the brainstem	84342	COG8	OMIM:611182
HP:0007366	Atrophy/Degeneration affecting the brainstem	84342	COG8	ORPHA:95428
HP:0007366	Atrophy/Degeneration affecting the brainstem	1892	ECHS1	OMIM:616277
HP:0007366	Atrophy/Degeneration affecting the brainstem	246243	RNASEH1	OMIM:616479
HP:0007366	Atrophy/Degeneration affecting the brainstem	478	ATP1A3	OMIM:619606
HP:0007366	Atrophy/Degeneration affecting the brainstem	79152	FA2H	ORPHA:171629
HP:0007366	Atrophy/Degeneration affecting the brainstem	79152	FA2H	OMIM:612319
HP:0007366	Atrophy/Degeneration affecting the brainstem	3708	ITPR1	OMIM:117360
HP:0007366	Atrophy/Degeneration affecting the brainstem	57038	RARS2	OMIM:611523
HP:0007366	Atrophy/Degeneration affecting the brainstem	27445	PCLO	OMIM:608027
HP:0007366	Atrophy/Degeneration affecting the brainstem	25885	POLR1A	OMIM:620675
HP:0007366	Atrophy/Degeneration affecting the brainstem	6908	TBP	ORPHA:98759
HP:0007366	Atrophy/Degeneration affecting the brainstem	4001	LMNB1	ORPHA:99027
HP:0007366	Atrophy/Degeneration affecting the brainstem	56652	TWNK	OMIM:271245
HP:0007366	Atrophy/Degeneration affecting the brainstem	6310	ATXN1	ORPHA:98755
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10749	KIF1C	ORPHA:397946
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10749	KIF1C	OMIM:611302
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1497	CTNS	OMIM:219800
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23394	ADNP	ORPHA:404448
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10617	STAMBP	OMIM:614261
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5723	PSPH	OMIM:614023
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51569	UFM1	OMIM:617899
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6873	TAF2	OMIM:615599
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6873	TAF2	ORPHA:397951
HP:0007367	Atrophy/Degeneration affecting the central nervous system	60684	TRAPPC11	OMIM:615356
HP:0007367	Atrophy/Degeneration affecting the central nervous system	60684	TRAPPC11	ORPHA:369847
HP:0007367	Atrophy/Degeneration affecting the central nervous system	81857	MED25	OMIM:616449
HP:0007367	Atrophy/Degeneration affecting the central nervous system	81857	MED25	ORPHA:464738
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2720	GLB1	OMIM:230600
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57165	GJC2	OMIM:608804
HP:0007367	Atrophy/Degeneration affecting the central nervous system	3074	HEXB	ORPHA:309162
HP:0007367	Atrophy/Degeneration affecting the central nervous system	65267	WNK3	OMIM:309610
HP:0007367	Atrophy/Degeneration affecting the central nervous system	101060691	NUTM2B-AS1	OMIM:618637
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1841	DTYMK	OMIM:619847
HP:0007367	Atrophy/Degeneration affecting the central nervous system	375387	NRROS	OMIM:618875
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5610	EIF2AK2	OMIM:618877
HP:0007367	Atrophy/Degeneration affecting the central nervous system	55768	NGLY1	ORPHA:404454
HP:0007367	Atrophy/Degeneration affecting the central nervous system	79693	YRDC	OMIM:619609
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23250	ATP11A	OMIM:619851
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5105	PCK1	OMIM:261680
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9698	PUM1	OMIM:620719
HP:0007367	Atrophy/Degeneration affecting the central nervous system	91869	RFT1	ORPHA:244310
HP:0007367	Atrophy/Degeneration affecting the central nervous system	91869	RFT1	OMIM:612015
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6573	SLC19A1	OMIM:620603
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1716	DGUOK	OMIM:251880
HP:0007367	Atrophy/Degeneration affecting the central nervous system	833	CARS1	OMIM:618891
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5833	PCYT2	OMIM:618770
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57178	ZMIZ1	OMIM:618659
HP:0007367	Atrophy/Degeneration affecting the central nervous system	26040	SETBP1	OMIM:269150
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9895	TECPR2	OMIM:615031
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9895	TECPR2	ORPHA:320385
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23126	POGZ	OMIM:616364
HP:0007367	Atrophy/Degeneration affecting the central nervous system	92609	TIMM50	OMIM:617698
HP:0007367	Atrophy/Degeneration affecting the central nervous system	92609	TIMM50	ORPHA:505216
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51692	CPSF3	OMIM:619876
HP:0007367	Atrophy/Degeneration affecting the central nervous system	285362	SUMF1	OMIM:272200
HP:0007367	Atrophy/Degeneration affecting the central nervous system	56052	ALG1	ORPHA:79327
HP:0007367	Atrophy/Degeneration affecting the central nervous system	56052	ALG1	OMIM:608540
HP:0007367	Atrophy/Degeneration affecting the central nervous system	54828	BCAS3	OMIM:619641
HP:0007367	Atrophy/Degeneration affecting the central nervous system	253959	RALGAPA1	OMIM:618797
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4076	CAPRIN1	OMIM:620636
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6621	SNAPC4	OMIM:620515
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10531	PITRM1	OMIM:619405
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2271	FH	OMIM:606812
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23556	PIGN	OMIM:614080
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23162	MAPK8IP3	OMIM:618443
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5917	RARS1	OMIM:616140
HP:0007367	Atrophy/Degeneration affecting the central nervous system	259232	NALCN	OMIM:616266
HP:0007367	Atrophy/Degeneration affecting the central nervous system	339855	KY	ORPHA:496689
HP:0007367	Atrophy/Degeneration affecting the central nervous system	3785	KCNQ2	ORPHA:439218
HP:0007367	Atrophy/Degeneration affecting the central nervous system	3785	KCNQ2	ORPHA:293181
HP:0007367	Atrophy/Degeneration affecting the central nervous system	29960	MRM2	OMIM:618567
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23189	KANK1	OMIM:612900
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8813	DPM1	ORPHA:79322
HP:0007367	Atrophy/Degeneration affecting the central nervous system	26100	WIPI2	OMIM:618453
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10533	ATG7	OMIM:619422
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7040	TGFB1	OMIM:618213
HP:0007367	Atrophy/Degeneration affecting the central nervous system	81570	CLPB	OMIM:616271
HP:0007367	Atrophy/Degeneration affecting the central nervous system	81570	CLPB	ORPHA:445038
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51117	COQ4	OMIM:616276
HP:0007367	Atrophy/Degeneration affecting the central nervous system	133686	NADK2	OMIM:616034
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51693	TRAPPC2L	OMIM:618331
HP:0007367	Atrophy/Degeneration affecting the central nervous system	84188	FAR1	OMIM:616154
HP:0007367	Atrophy/Degeneration affecting the central nervous system	27133	KCNH5	OMIM:620537
HP:0007367	Atrophy/Degeneration affecting the central nervous system	27429	HTRA2	OMIM:617248
HP:0007367	Atrophy/Degeneration affecting the central nervous system	58497	PRUNE1	ORPHA:544469
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51013	EXOSC1	OMIM:619304
HP:0007367	Atrophy/Degeneration affecting the central nervous system	140679	SLC32A1	OMIM:620774
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9759	HDAC4	OMIM:619797
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23516	SLC39A14	OMIM:617013
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23516	SLC39A14	ORPHA:521406
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8506	CNTNAP1	OMIM:616286
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1317	SLC31A1	OMIM:620306
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9526	MPDU1	OMIM:609180
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4838	NODAL	OMIM:270100
HP:0007367	Atrophy/Degeneration affecting the central nervous system	128869	PIGU	OMIM:618590
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10733	PLK4	OMIM:616171
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7084	TK2	ORPHA:254886
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7084	TK2	OMIM:609560
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4695	NDUFA2	OMIM:618235
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57520	HECW2	OMIM:617268
HP:0007367	Atrophy/Degeneration affecting the central nervous system	112939	NACC1	ORPHA:500545
HP:0007367	Atrophy/Degeneration affecting the central nervous system	112939	NACC1	OMIM:617393
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1760	DMPK	OMIM:160900
HP:0007367	Atrophy/Degeneration affecting the central nervous system	154881	KCTD7	OMIM:611726
HP:0007367	Atrophy/Degeneration affecting the central nervous system	154881	KCTD7	ORPHA:263516
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5934	RBL2	OMIM:619690
HP:0007367	Atrophy/Degeneration affecting the central nervous system	79709	COLGALT1	OMIM:618360
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5071	PRKN	OMIM:600116
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4784	NFIX	OMIM:602535
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4784	NFIX	ORPHA:447980
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4704	NDUFA9	OMIM:618247
HP:0007367	Atrophy/Degeneration affecting the central nervous system	79641	ROGDI	OMIM:226750
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6601	SMARCC2	OMIM:618362
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8260	NAA10	OMIM:300855
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8260	NAA10	ORPHA:276432
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7965	AIMP2	OMIM:618006
HP:0007367	Atrophy/Degeneration affecting the central nervous system	549	AUH	OMIM:250950
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6821	SUOX	OMIM:272300
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1781	DYNC1I2	OMIM:618492
HP:0007367	Atrophy/Degeneration affecting the central nervous system	127833	SYT2	OMIM:619461
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8802	SUCLG1	ORPHA:17
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8802	SUCLG1	OMIM:245400
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4714	NDUFB8	OMIM:618252
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1822	ATN1	OMIM:618494
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4761	NEUROD2	OMIM:618374
HP:0007367	Atrophy/Degeneration affecting the central nervous system	84896	ATAD1	OMIM:618011
HP:0007367	Atrophy/Degeneration affecting the central nervous system	220296	HEPACAM	OMIM:613925
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4548	MTR	OMIM:250940
HP:0007367	Atrophy/Degeneration affecting the central nervous system	83480	PUS3	OMIM:617051
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8943	AP3D1	OMIM:617050
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57498	KIDINS220	OMIM:617296
HP:0007367	Atrophy/Degeneration affecting the central nervous system	3975	LHX1	ORPHA:261265
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6928	HNF1B	ORPHA:261265
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57003	CCDC47	OMIM:618268
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51095	TRNT1	OMIM:616084
HP:0007367	Atrophy/Degeneration affecting the central nervous system	94005	PIGS	OMIM:618143
HP:0007367	Atrophy/Degeneration affecting the central nervous system	145173	B3GLCT	OMIM:261540
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51091	SEPSECS	OMIM:613811
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2571	GAD1	OMIM:619124
HP:0007367	Atrophy/Degeneration affecting the central nervous system	90522	YIF1B	OMIM:619125
HP:0007367	Atrophy/Degeneration affecting the central nervous system	440138	ALG11	ORPHA:280071
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51715	RAB23	OMIM:201000
HP:0007367	Atrophy/Degeneration affecting the central nervous system	91875	TTC5	OMIM:619244
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57704	GBA2	ORPHA:320391
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57704	GBA2	OMIM:614409
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57704	GBA2	ORPHA:352641
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6663	SOX10	OMIM:609136
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10084	PQBP1	OMIM:309500
HP:0007367	Atrophy/Degeneration affecting the central nervous system	84231	TRAF7	OMIM:618164
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9487	PIGL	OMIM:280000
HP:0007367	Atrophy/Degeneration affecting the central nervous system	727676	SNORD118	ORPHA:542310
HP:0007367	Atrophy/Degeneration affecting the central nervous system	54187	NANS	OMIM:610442
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1719	DHFR	OMIM:613839
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4668	NAGA	OMIM:609242
HP:0007367	Atrophy/Degeneration affecting the central nervous system	54936	ADPRS	OMIM:618170
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4702	NDUFA8	OMIM:619272
HP:0007367	Atrophy/Degeneration affecting the central nervous system	27183	VPS4A	OMIM:619273
HP:0007367	Atrophy/Degeneration affecting the central nervous system	158	ADSL	OMIM:103050
HP:0007367	Atrophy/Degeneration affecting the central nervous system	199857	ALG14	OMIM:619036
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1183	CLCN4	OMIM:300114
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51102	MECR	ORPHA:508093
HP:0007367	Atrophy/Degeneration affecting the central nervous system	347734	SLC35B2	OMIM:620269
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57468	SLC12A5	ORPHA:293181
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57468	SLC12A5	OMIM:616645
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23236	PLCB1	ORPHA:293181
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57465	TBC1D24	ORPHA:293181
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57465	TBC1D24	OMIM:220500
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57465	TBC1D24	OMIM:615338
HP:0007367	Atrophy/Degeneration affecting the central nervous system	64324	NSD1	ORPHA:821
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10297	APC2	ORPHA:821
HP:0007367	Atrophy/Degeneration affecting the central nervous system	162	AP1B1	OMIM:242150
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9442	MED27	OMIM:619286
HP:0007367	Atrophy/Degeneration affecting the central nervous system	80055	PGAP1	OMIM:615802
HP:0007367	Atrophy/Degeneration affecting the central nervous system	54476	RNF216	OMIM:212840
HP:0007367	Atrophy/Degeneration affecting the central nervous system	26153	KIF26A	OMIM:620156
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51324	SPG21	OMIM:248900
HP:0007367	Atrophy/Degeneration affecting the central nervous system	64207	IRF2BPL	OMIM:618088
HP:0007367	Atrophy/Degeneration affecting the central nervous system	55037	PTCD3	OMIM:619057
HP:0007367	Atrophy/Degeneration affecting the central nervous system	55157	DARS2	ORPHA:137898
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2260	FGFR1	ORPHA:2396
HP:0007367	Atrophy/Degeneration affecting the central nervous system	3845	KRAS	ORPHA:2396
HP:0007367	Atrophy/Degeneration affecting the central nervous system	114034	TOE1	OMIM:614969
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7841	MOGS	OMIM:606056
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8772	FADD	OMIM:613759
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8772	FADD	ORPHA:306550
HP:0007367	Atrophy/Degeneration affecting the central nervous system	54675	CRLS1	OMIM:620167
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5095	PCCA	OMIM:606054
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5096	PCCB	OMIM:606054
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57531	HACE1	ORPHA:464282
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57531	HACE1	OMIM:616756
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7466	WFS1	OMIM:222300
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1327	COX4I1	OMIM:619060
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4338	MOCS2	OMIM:252160
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4598	MVK	OMIM:610377
HP:0007367	Atrophy/Degeneration affecting the central nervous system	54872	PIGG	OMIM:616917
HP:0007367	Atrophy/Degeneration affecting the central nervous system	3265	HRAS	OMIM:218040
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5826	ABCD4	OMIM:614857
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10056	FARSB	OMIM:613658
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5521	PPP2R2B	ORPHA:98762
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1654	DDX3X	ORPHA:3338
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8481	OFD1	OMIM:311200
HP:0007367	Atrophy/Degeneration affecting the central nervous system	55343	SLC35C1	ORPHA:99843
HP:0007367	Atrophy/Degeneration affecting the central nervous system	26047	CNTNAP2	OMIM:610042
HP:0007367	Atrophy/Degeneration affecting the central nervous system	55275	VPS53	OMIM:615851
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5824	PEX19	OMIM:614886
HP:0007367	Atrophy/Degeneration affecting the central nervous system	85021	REPS1	OMIM:617916
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6314	ATXN7	ORPHA:94147
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10159	ATP6AP2	OMIM:300423
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57017	COQ9	OMIM:614654
HP:0007367	Atrophy/Degeneration affecting the central nervous system	22907	DHX30	OMIM:617804
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10664	CTCF	OMIM:615502
HP:0007367	Atrophy/Degeneration affecting the central nervous system	26123	TCTN3	OMIM:258860
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10075	HUWE1	OMIM:309590
HP:0007367	Atrophy/Degeneration affecting the central nervous system	64116	SLC39A8	OMIM:616721
HP:0007367	Atrophy/Degeneration affecting the central nervous system	132	ADK	OMIM:614300
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6513	SLC2A1	OMIM:612126
HP:0007367	Atrophy/Degeneration affecting the central nervous system	53616	ADAM22	OMIM:617933
HP:0007367	Atrophy/Degeneration affecting the central nervous system	546	ATRX	OMIM:301040
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8050	PDHX	ORPHA:255182
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2258	FGF13	OMIM:301058
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9150	CTDP1	OMIM:604168
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9131	AIFM1	ORPHA:83629
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5859	QARS1	OMIM:615760
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5160	PDHA1	OMIM:312170
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5160	PDHA1	ORPHA:79243
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1806	DPYD	OMIM:274270
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1806	DPYD	ORPHA:1675
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2891	GRIA2	OMIM:618917
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23732	FRRS1L	OMIM:616981
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2058	EPRS1	OMIM:617951
HP:0007367	Atrophy/Degeneration affecting the central nervous system	80746	TSEN2	OMIM:612389
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2917	GRM7	OMIM:618922
HP:0007367	Atrophy/Degeneration affecting the central nervous system	29940	DSE	OMIM:615539
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9361	LONP1	ORPHA:79243
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5422	POLA1	OMIM:301030
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57511	COG6	OMIM:614576
HP:0007367	Atrophy/Degeneration affecting the central nervous system	175	AGA	OMIM:208400
HP:0007367	Atrophy/Degeneration affecting the central nervous system	25839	COG4	OMIM:613489
HP:0007367	Atrophy/Degeneration affecting the central nervous system	55644	OSGEP	OMIM:617729
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57572	DOCK6	OMIM:614219
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2313	FLI1	ORPHA:2308
HP:0007367	Atrophy/Degeneration affecting the central nervous system	112858	TP53RK	OMIM:617730
HP:0007367	Atrophy/Degeneration affecting the central nervous system	11019	LIAS	OMIM:614462
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8270	LAGE3	OMIM:301006
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6812	STXBP1	OMIM:612164
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2517	FUCA1	OMIM:230000
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4337	MOCS1	OMIM:252150
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23040	MYT1L	OMIM:616521
HP:0007367	Atrophy/Degeneration affecting the central nervous system	25914	RTTN	ORPHA:468631
HP:0007367	Atrophy/Degeneration affecting the central nervous system	80781	COL18A1	OMIM:267750
HP:0007367	Atrophy/Degeneration affecting the central nervous system	617	BCS1L	OMIM:124000
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4094	MAF	OMIM:601088
HP:0007367	Atrophy/Degeneration affecting the central nervous system	95	ACY1	OMIM:609924
HP:0007367	Atrophy/Degeneration affecting the central nervous system	54802	TRIT1	OMIM:617873
HP:0007367	Atrophy/Degeneration affecting the central nervous system	26503	SLC17A5	OMIM:269920
HP:0007367	Atrophy/Degeneration affecting the central nervous system	200205	IBA57	OMIM:615330
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2806	GOT2	OMIM:618721
HP:0007367	Atrophy/Degeneration affecting the central nervous system	3778	KCNMA1	OMIM:618729
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2639	GCDH	OMIM:231670
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4204	MECP2	ORPHA:209370
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51075	TMX2	OMIM:618730
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8884	SLC5A6	OMIM:618973
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7305	TYROBP	OMIM:221770
HP:0007367	Atrophy/Degeneration affecting the central nervous system	55331	ACER3	OMIM:617762
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2902	GRIN1	OMIM:614254
HP:0007367	Atrophy/Degeneration affecting the central nervous system	22978	NT5C2	OMIM:613162
HP:0007367	Atrophy/Degeneration affecting the central nervous system	92935	MARS2	OMIM:616430
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7543	ZFX	OMIM:301118
HP:0007367	Atrophy/Degeneration affecting the central nervous system	85378	TUBGCP6	OMIM:251270
HP:0007367	Atrophy/Degeneration affecting the central nervous system	547	KIF1A	OMIM:614255
HP:0007367	Atrophy/Degeneration affecting the central nervous system	55753	OGDHL	OMIM:619701
HP:0007367	Atrophy/Degeneration affecting the central nervous system	22868	FASTKD2	OMIM:618855
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5538	PPT1	OMIM:256730
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1203	CLN5	OMIM:256731
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1201	CLN3	OMIM:204200
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2055	CLN8	OMIM:600143
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2055	CLN8	OMIM:610003
HP:0007367	Atrophy/Degeneration affecting the central nervous system	54982	CLN6	OMIM:204300
HP:0007367	Atrophy/Degeneration affecting the central nervous system	54982	CLN6	OMIM:601780
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1200	TPP1	OMIM:204500
HP:0007367	Atrophy/Degeneration affecting the central nervous system	80331	DNAJC5	OMIM:162350
HP:0007367	Atrophy/Degeneration affecting the central nervous system	25792	CIZ1	ORPHA:420492
HP:0007367	Atrophy/Degeneration affecting the central nervous system	673	BRAF	OMIM:115150
HP:0007367	Atrophy/Degeneration affecting the central nervous system	673	BRAF	ORPHA:1340
HP:0007367	Atrophy/Degeneration affecting the central nervous system	54820	NDE1	ORPHA:2177
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7360	UGP2	OMIM:618744
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5457	POU4F1	ORPHA:314647
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23261	CAMTA1	ORPHA:314647
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23261	CAMTA1	OMIM:614756
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8496	PPFIBP1	OMIM:620024
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51816	ADA2	ORPHA:820
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51112	TRAPPC12	ORPHA:500144
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51112	TRAPPC12	OMIM:617669
HP:0007367	Atrophy/Degeneration affecting the central nervous system	54968	TMEM70	ORPHA:1194
HP:0007367	Atrophy/Degeneration affecting the central nervous system	3020	H3-3A	OMIM:619720
HP:0007367	Atrophy/Degeneration affecting the central nervous system	387787	LIPT2	OMIM:617668
HP:0007367	Atrophy/Degeneration affecting the central nervous system	84520	GON7	OMIM:619603
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23431	AP4E1	OMIM:613744
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23431	AP4E1	ORPHA:280763
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10978	CLP1	OMIM:615803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	79158	GNPTAB	OMIM:252500
HP:0007367	Atrophy/Degeneration affecting the central nervous system	271	AMPD2	OMIM:615809
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5189	PEX1	OMIM:214100
HP:0007367	Atrophy/Degeneration affecting the central nervous system	55650	PIGV	OMIM:239300
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2192	FBLN1	ORPHA:404451
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4509	MT-ATP8	ORPHA:254913
HP:0007367	Atrophy/Degeneration affecting the central nervous system	514	ATP5F1E	ORPHA:254913
HP:0007367	Atrophy/Degeneration affecting the central nervous system	513	ATP5F1D	ORPHA:254913
HP:0007367	Atrophy/Degeneration affecting the central nervous system	498	ATP5F1A	ORPHA:254913
HP:0007367	Atrophy/Degeneration affecting the central nervous system	84833	ATP5MK	ORPHA:254913
HP:0007367	Atrophy/Degeneration affecting the central nervous system	91647	ATPAF2	ORPHA:254913
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6496	SIX3	OMIM:269160
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2018	EMX2	OMIM:269160
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5191	PEX7	OMIM:215100
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2332	FMR1	ORPHA:93256
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2332	FMR1	ORPHA:908
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23400	ATP13A2	ORPHA:513436
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23400	ATP13A2	ORPHA:306674
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23400	ATP13A2	OMIM:617225
HP:0007367	Atrophy/Degeneration affecting the central nervous system	652	BMP4	OMIM:607932
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57231	SNX14	OMIM:616354
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23230	VPS13A	ORPHA:2388
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4582	MUC1	OMIM:174000
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57338	JPH3	ORPHA:98934
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57338	JPH3	OMIM:606438
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23265	EXOC7	OMIM:619072
HP:0007367	Atrophy/Degeneration affecting the central nervous system	699	BUB1	OMIM:620183
HP:0007367	Atrophy/Degeneration affecting the central nervous system	55699	IARS2	OMIM:616007
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5590	PRKCZ	ORPHA:1606
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2563	GABRD	ORPHA:1606
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23013	SPEN	ORPHA:1606
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8510	MMP23B	ORPHA:1606
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7798	LUZP1	ORPHA:1606
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6497	SKI	ORPHA:1606
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10630	PDPN	ORPHA:1606
HP:0007367	Atrophy/Degeneration affecting the central nervous system	3339	HSPG2	ORPHA:1606
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10277	UBE4B	ORPHA:1606
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8514	KCNAB2	ORPHA:1606
HP:0007367	Atrophy/Degeneration affecting the central nervous system	473	RERE	ORPHA:1606
HP:0007367	Atrophy/Degeneration affecting the central nervous system	63976	PRDM16	ORPHA:1606
HP:0007367	Atrophy/Degeneration affecting the central nervous system	54897	CASZ1	ORPHA:1606
HP:0007367	Atrophy/Degeneration affecting the central nervous system	493856	CISD2	ORPHA:3463
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7337	UBE3A	OMIM:105830
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6638	SNRPN	OMIM:105830
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6638	SNRPN	ORPHA:177907
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1859	DYRK1A	ORPHA:464311
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1859	DYRK1A	ORPHA:268261
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1859	DYRK1A	OMIM:614104
HP:0007367	Atrophy/Degeneration affecting the central nervous system	11128	POLR3A	ORPHA:447896
HP:0007367	Atrophy/Degeneration affecting the central nervous system	11128	POLR3A	OMIM:607694
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8517	IKBKG	ORPHA:464
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51633	OTUD6B	ORPHA:505237
HP:0007367	Atrophy/Degeneration affecting the central nervous system	56098	PCDHGC4	OMIM:619880
HP:0007367	Atrophy/Degeneration affecting the central nervous system	54499	TMCO1	ORPHA:1394
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9562	MINPP1	OMIM:619527
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8573	CASK	ORPHA:163937
HP:0007367	Atrophy/Degeneration affecting the central nervous system	54941	RNF125	OMIM:616260
HP:0007367	Atrophy/Degeneration affecting the central nervous system	25836	NIPBL	OMIM:122470
HP:0007367	Atrophy/Degeneration affecting the central nervous system	25836	NIPBL	ORPHA:199
HP:0007367	Atrophy/Degeneration affecting the central nervous system	283989	TSEN54	OMIM:277470
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10452	TOMM40	ORPHA:1020
HP:0007367	Atrophy/Degeneration affecting the central nervous system	351	APP	ORPHA:1020
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6653	SORL1	ORPHA:1020
HP:0007367	Atrophy/Degeneration affecting the central nervous system	404672	GTF2H5	ORPHA:33364
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2068	ERCC2	ORPHA:33364
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2068	ERCC2	ORPHA:910
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2068	ERCC2	ORPHA:1466
HP:0007367	Atrophy/Degeneration affecting the central nervous system	136647	MPLKIP	ORPHA:33364
HP:0007367	Atrophy/Degeneration affecting the central nervous system	136647	MPLKIP	OMIM:234050
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6897	TARS1	ORPHA:33364
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2071	ERCC3	ORPHA:33364
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2071	ERCC3	ORPHA:910
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2961	GTF2E2	ORPHA:33364
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51750	RTEL1	ORPHA:3322
HP:0007367	Atrophy/Degeneration affecting the central nervous system	65057	ACD	ORPHA:3322
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5073	PARN	ORPHA:3322
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7015	TERT	ORPHA:3322
HP:0007367	Atrophy/Degeneration affecting the central nervous system	26277	TINF2	ORPHA:3322
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1736	DKC1	ORPHA:3322
HP:0007367	Atrophy/Degeneration affecting the central nervous system	79053	ALG8	ORPHA:79325
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2776	GNAQ	ORPHA:3205
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2776	GNAQ	OMIM:185300
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2583	B4GALNT1	OMIM:609195
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2583	B4GALNT1	ORPHA:101006
HP:0007367	Atrophy/Degeneration affecting the central nervous system	11232	POLG2	OMIM:619425
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57724	EPG5	ORPHA:1493
HP:0007367	Atrophy/Degeneration affecting the central nervous system	81603	TRIM8	OMIM:619428
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7507	XPA	ORPHA:910
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7508	XPC	ORPHA:910
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1643	DDB2	ORPHA:910
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2073	ERCC5	ORPHA:910
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2073	ERCC5	ORPHA:1466
HP:0007367	Atrophy/Degeneration affecting the central nervous system	55703	POLR3B	OMIM:607694
HP:0007367	Atrophy/Degeneration affecting the central nervous system	27238	GPKOW	ORPHA:2570
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8925	HERC1	OMIM:617011
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8925	HERC1	ORPHA:457359
HP:0007367	Atrophy/Degeneration affecting the central nervous system	27249	MMADHC	OMIM:277410
HP:0007367	Atrophy/Degeneration affecting the central nervous system	55630	SLC39A4	ORPHA:37
HP:0007367	Atrophy/Degeneration affecting the central nervous system	116461	TSEN15	OMIM:617026
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8085	KMT2D	ORPHA:2322
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7403	KDM6A	ORPHA:2322
HP:0007367	Atrophy/Degeneration affecting the central nervous system	998	CDC42	OMIM:616737
HP:0007367	Atrophy/Degeneration affecting the central nervous system	50	ACO2	OMIM:614559
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10166	SLC25A15	ORPHA:415
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10166	SLC25A15	OMIM:238970
HP:0007367	Atrophy/Degeneration affecting the central nervous system	29925	GMPPB	ORPHA:370968
HP:0007367	Atrophy/Degeneration affecting the central nervous system	79147	FKRP	ORPHA:370968
HP:0007367	Atrophy/Degeneration affecting the central nervous system	29954	POMT2	ORPHA:370968
HP:0007367	Atrophy/Degeneration affecting the central nervous system	29954	POMT2	OMIM:613156
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9215	LARGE1	ORPHA:370968
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10585	POMT1	ORPHA:370968
HP:0007367	Atrophy/Degeneration affecting the central nervous system	56915	EXOSC5	OMIM:619576
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23221	RHOBTB2	OMIM:618004
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2067	ERCC1	ORPHA:1466
HP:0007367	Atrophy/Degeneration affecting the central nervous system	54834	GDAP2	OMIM:618369
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23317	DNAJC13	ORPHA:411602
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1981	EIF4G1	ORPHA:411602
HP:0007367	Atrophy/Degeneration affecting the central nervous system	55737	VPS35	ORPHA:411602
HP:0007367	Atrophy/Degeneration affecting the central nervous system	120892	LRRK2	ORPHA:411602
HP:0007367	Atrophy/Degeneration affecting the central nervous system	26058	GIGYF2	ORPHA:411602
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5604	MAP2K1	ORPHA:1340
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5605	MAP2K2	ORPHA:1340
HP:0007367	Atrophy/Degeneration affecting the central nervous system	100506658	OCLN	ORPHA:1229
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9758	FRMPD4	OMIM:300983
HP:0007367	Atrophy/Degeneration affecting the central nervous system	83696	TRAPPC9	ORPHA:352530
HP:0007367	Atrophy/Degeneration affecting the central nervous system	128637	TBC1D20	OMIM:615663
HP:0007367	Atrophy/Degeneration affecting the central nervous system	128637	TBC1D20	ORPHA:2510
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23476	BRD4	ORPHA:199
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9126	SMC3	ORPHA:199
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8243	SMC1A	ORPHA:199
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6878	TAF6	ORPHA:199
HP:0007367	Atrophy/Degeneration affecting the central nervous system	55869	HDAC8	ORPHA:199
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5885	RAD21	ORPHA:199
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9791	PTDSS1	OMIM:151050
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6197	RPS6KA3	ORPHA:192
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10815	CPLX1	OMIM:617976
HP:0007367	Atrophy/Degeneration affecting the central nervous system	22931	RAB18	OMIM:614222
HP:0007367	Atrophy/Degeneration affecting the central nervous system	22931	RAB18	ORPHA:2510
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10283	CWC27	OMIM:250410
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10283	CWC27	ORPHA:166035
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8905	AP1S2	ORPHA:1568
HP:0007367	Atrophy/Degeneration affecting the central nervous system	60558	GUF1	OMIM:617065
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57688	ZSWIM6	OMIM:617865
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2893	GRIA4	OMIM:617864
HP:0007367	Atrophy/Degeneration affecting the central nervous system	55164	SHQ1	OMIM:619922
HP:0007367	Atrophy/Degeneration affecting the central nervous system	3090	HIC1	ORPHA:531
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5048	PAFAH1B1	ORPHA:531
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7531	YWHAE	ORPHA:531
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10717	AP4B1	ORPHA:280763
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9179	AP4M1	ORPHA:280763
HP:0007367	Atrophy/Degeneration affecting the central nervous system	11154	AP4S1	ORPHA:280763
HP:0007367	Atrophy/Degeneration affecting the central nervous system	340533	NEXMIF	ORPHA:85277
HP:0007367	Atrophy/Degeneration affecting the central nervous system	27229	TUBGCP4	ORPHA:2518
HP:0007367	Atrophy/Degeneration affecting the central nervous system	55005	RMND1	OMIM:614922
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4693	NDP	ORPHA:649
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23299	BICD2	OMIM:618291
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23404	EXOSC2	OMIM:617763
HP:0007367	Atrophy/Degeneration affecting the central nervous system	221692	PHACTR1	OMIM:618298
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4858	NOVA2	OMIM:618859
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9373	PLAA	OMIM:617527
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5052	PRDX1	OMIM:277400
HP:0007367	Atrophy/Degeneration affecting the central nervous system	267010	RNU12	ORPHA:512260
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2074	ERCC6	OMIM:214150
HP:0007367	Atrophy/Degeneration affecting the central nervous system	11152	WDR45	OMIM:300894
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2512	FTL	OMIM:606159
HP:0007367	Atrophy/Degeneration affecting the central nervous system	55739	NAXD	OMIM:618321
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7345	UCHL1	OMIM:615491
HP:0007367	Atrophy/Degeneration affecting the central nervous system	3423	IDS	OMIM:309900
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7343	UBTF	OMIM:617672
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6711	SPTBN1	OMIM:619475
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4683	NBN	OMIM:251260
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2990	GUSB	OMIM:253220
HP:0007367	Atrophy/Degeneration affecting the central nervous system	54902	TTC19	OMIM:615157
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2495	FTH1	OMIM:620669
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1737	DLAT	ORPHA:79244
HP:0007367	Atrophy/Degeneration affecting the central nervous system	25978	CHMP2B	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	3178	HNRNPA1	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8148	TAF15	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5445	PON2	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9217	VAPB	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8878	SQSTM1	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5630	PRPH	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	29110	TBK1	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	55830	GLT8D1	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	755	CFAP410	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10891	PPARGC1A	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6647	SOD1	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10133	OPTN	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1639	DCTN1	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9896	FIG4	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5444	PON1	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5446	PON3	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4744	NEFH	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5216	PFN1	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9782	MATR3	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	54209	TREM2	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7415	VCP	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	283	ANG	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23435	TARDBP	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	29978	UBQLN2	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2733	GLE1	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2521	FUS	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4750	NEK1	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6311	ATXN2	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1610	DAO	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2066	ERBB4	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	311	ANXA11	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23025	UNC13A	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	899	CCNF	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	400916	CHCHD10	ORPHA:803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	27235	COQ2	OMIM:146500
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5111	PCNA	OMIM:615919
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5111	PCNA	ORPHA:438134
HP:0007367	Atrophy/Degeneration affecting the central nervous system	80025	PANK2	OMIM:234200
HP:0007367	Atrophy/Degeneration affecting the central nervous system	26137	ZBTB20	OMIM:259050
HP:0007367	Atrophy/Degeneration affecting the central nervous system	215	ABCD1	OMIM:300100
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1436	CSF1R	OMIM:618476
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2760	GM2A	ORPHA:309246
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2760	GM2A	OMIM:272750
HP:0007367	Atrophy/Degeneration affecting the central nervous system	83636	C19orf12	OMIM:614298
HP:0007367	Atrophy/Degeneration affecting the central nervous system	25828	TXN2	ORPHA:478029
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2581	GALC	OMIM:245200
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2348	FOLR1	OMIM:613068
HP:0007367	Atrophy/Degeneration affecting the central nervous system	80347	COASY	OMIM:615643
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8398	PLA2G6	OMIM:256600
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8398	PLA2G6	OMIM:610217
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57505	AARS2	OMIM:615889
HP:0007367	Atrophy/Degeneration affecting the central nervous system	128989	TANGO2	OMIM:616878
HP:0007367	Atrophy/Degeneration affecting the central nervous system	79731	NARS2	OMIM:616239
HP:0007367	Atrophy/Degeneration affecting the central nervous system	256471	MFSD8	OMIM:610951
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1130	LYST	OMIM:214500
HP:0007367	Atrophy/Degeneration affecting the central nervous system	3425	IDUA	OMIM:607014
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1974	EIF4A2	OMIM:620455
HP:0007367	Atrophy/Degeneration affecting the central nervous system	79152	FA2H	OMIM:612319
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8883	NAE1	OMIM:620210
HP:0007367	Atrophy/Degeneration affecting the central nervous system	3028	HSD17B10	ORPHA:391428
HP:0007367	Atrophy/Degeneration affecting the central nervous system	435	ASL	ORPHA:23
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1798	DPAGT1	ORPHA:86309
HP:0007367	Atrophy/Degeneration affecting the central nervous system	26235	FBXL4	OMIM:615471
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7737	RNF113A	OMIM:300953
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51604	PIGT	ORPHA:369837
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1593	CYP27A1	ORPHA:909
HP:0007367	Atrophy/Degeneration affecting the central nervous system	25782	RAB3GAP2	OMIM:614225
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9255	AIMP1	OMIM:260600
HP:0007367	Atrophy/Degeneration affecting the central nervous system	85476	GFM1	OMIM:609060
HP:0007367	Atrophy/Degeneration affecting the central nervous system	285175	UNC80	OMIM:616801
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8021	NUP214	OMIM:618426
HP:0007367	Atrophy/Degeneration affecting the central nervous system	11267	SNF8	OMIM:620784
HP:0007367	Atrophy/Degeneration affecting the central nervous system	11267	SNF8	OMIM:620783
HP:0007367	Atrophy/Degeneration affecting the central nervous system	55775	TDP1	ORPHA:94124
HP:0007367	Atrophy/Degeneration affecting the central nervous system	79796	ALG9	OMIM:608776
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6335	SCN9A	ORPHA:33069
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6326	SCN2A	ORPHA:33069
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6326	SCN2A	OMIM:613721
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2554	GABRA1	ORPHA:33069
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6324	SCN1B	ORPHA:33069
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57526	PCDH19	ORPHA:33069
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1528	CYB5A	ORPHA:621
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1727	CYB5R3	ORPHA:621
HP:0007367	Atrophy/Degeneration affecting the central nervous system	170302	ARX	OMIM:308350
HP:0007367	Atrophy/Degeneration affecting the central nervous system	83475	DOHH	OMIM:620066
HP:0007367	Atrophy/Degeneration affecting the central nervous system	55593	OTUD5	OMIM:301056
HP:0007367	Atrophy/Degeneration affecting the central nervous system	790	CAD	OMIM:616457
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2782	GNB1	OMIM:616973
HP:0007367	Atrophy/Degeneration affecting the central nervous system	55163	PNPO	ORPHA:79096
HP:0007367	Atrophy/Degeneration affecting the central nervous system	79944	L2HGDH	OMIM:236792
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8869	ST3GAL5	OMIM:609056
HP:0007367	Atrophy/Degeneration affecting the central nervous system	79868	ALG13	ORPHA:324422
HP:0007367	Atrophy/Degeneration affecting the central nervous system	440	ASNS	OMIM:615574
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6651	SON	ORPHA:500150
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1315	COPB1	OMIM:619255
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10352	WARS2	OMIM:619738
HP:0007367	Atrophy/Degeneration affecting the central nervous system	29920	PYCR2	ORPHA:481152
HP:0007367	Atrophy/Degeneration affecting the central nervous system	22827	PUF60	ORPHA:508488
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1717	DHCR7	OMIM:270400
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1678	TIMM8A	ORPHA:52368
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8803	SUCLA2	OMIM:612073
HP:0007367	Atrophy/Degeneration affecting the central nervous system	79587	CARS2	OMIM:616672
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7407	VARS1	OMIM:617802
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6304	SATB1	OMIM:619229
HP:0007367	Atrophy/Degeneration affecting the central nervous system	27010	TPK1	OMIM:614458
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10695	CNPY3	OMIM:617929
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6622	SNCA	OMIM:168601
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6253	RTN2	ORPHA:100993
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51271	UBAP1	ORPHA:100993
HP:0007367	Atrophy/Degeneration affecting the central nervous system	126129	CPT1C	ORPHA:444099
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9897	WASHC5	OMIM:603563
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9897	WASHC5	ORPHA:100989
HP:0007367	Atrophy/Degeneration affecting the central nervous system	123606	NIPA1	OMIM:600363
HP:0007367	Atrophy/Degeneration affecting the central nervous system	3839	KPNA3	ORPHA:171612
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9197	SLC33A1	ORPHA:171863
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6683	SPAST	OMIM:182601
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51062	ATL1	OMIM:182600
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5354	PLP1	OMIM:312920
HP:0007367	Atrophy/Degeneration affecting the central nervous system	93986	FOXP2	ORPHA:209908
HP:0007367	Atrophy/Degeneration affecting the central nervous system	79133	NDUFAF5	OMIM:618238
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4983	OPHN1	ORPHA:137831
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7317	UBA1	OMIM:301830
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7317	UBA1	ORPHA:1145
HP:0007367	Atrophy/Degeneration affecting the central nervous system	65250	CPLANE1	ORPHA:65684
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57562	CEP126	ORPHA:65684
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6606	SMN1	OMIM:253550
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6606	SMN1	OMIM:271150
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6606	SMN1	OMIM:253400
HP:0007367	Atrophy/Degeneration affecting the central nervous system	11340	EXOSC8	ORPHA:2254
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5393	EXOSC9	ORPHA:2254
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23287	AGTPBP1	ORPHA:2254
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51010	EXOSC3	ORPHA:2254
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7443	VRK1	ORPHA:2254
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7443	VRK1	OMIM:607596
HP:0007367	Atrophy/Degeneration affecting the central nervous system	91137	SLC25A46	ORPHA:2254
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10342	TFG	OMIM:604484
HP:0007367	Atrophy/Degeneration affecting the central nervous system	3508	IGHMBP2	OMIM:604320
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6607	SMN2	OMIM:253400
HP:0007367	Atrophy/Degeneration affecting the central nervous system	3735	KARS1	ORPHA:3240
HP:0007367	Atrophy/Degeneration affecting the central nervous system	64601	VPS16	OMIM:619291
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7384	UQCRC1	OMIM:619279
HP:0007367	Atrophy/Degeneration affecting the central nervous system	22796	COG2	OMIM:617395
HP:0007367	Atrophy/Degeneration affecting the central nervous system	22796	COG2	ORPHA:435934
HP:0007367	Atrophy/Degeneration affecting the central nervous system	686	BTD	OMIM:253260
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23203	PMPCA	ORPHA:1170
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2232	FDXR	ORPHA:543470
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2903	GRIN2A	ORPHA:289266
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51473	DCDC2	ORPHA:84081
HP:0007367	Atrophy/Degeneration affecting the central nervous system	91147	TMEM67	ORPHA:84081
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9440	MED17	OMIM:613668
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6792	CDKL5	ORPHA:1934
HP:0007367	Atrophy/Degeneration affecting the central nervous system	3736	KCNA1	ORPHA:1934
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9091	PIGQ	ORPHA:1934
HP:0007367	Atrophy/Degeneration affecting the central nervous system	150094	SIK1	ORPHA:1934
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23312	DMXL2	ORPHA:1934
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51227	PIGP	ORPHA:1934
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7074	TIAM1	OMIM:619908
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5274	SERPINI1	OMIM:604218
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5663	PSEN1	OMIM:600274
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5663	PSEN1	OMIM:172700
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4137	MAPT	OMIM:600274
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4137	MAPT	OMIM:601104
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4137	MAPT	OMIM:172700
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4137	MAPT	OMIM:168600
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5621	PRNP	ORPHA:282166
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5621	PRNP	OMIM:600072
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9997	SCO2	OMIM:604377
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6904	TBCD	OMIM:617193
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10479	SLC9A6	ORPHA:85278
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10479	SLC9A6	OMIM:300243
HP:0007367	Atrophy/Degeneration affecting the central nervous system	54832	VPS13C	OMIM:616840
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5173	PDYN	OMIM:610245
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1786	DNMT1	ORPHA:314404
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1509	CTSD	OMIM:610127
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5428	POLG	OMIM:203700
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4864	NPC1	OMIM:257220
HP:0007367	Atrophy/Degeneration affecting the central nervous system	203228	C9orf72	OMIM:105550
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2896	GRN	OMIM:607485
HP:0007367	Atrophy/Degeneration affecting the central nervous system	26580	BSCL2	ORPHA:363400
HP:0007367	Atrophy/Degeneration affecting the central nervous system	26580	BSCL2	OMIM:615924
HP:0007367	Atrophy/Degeneration affecting the central nervous system	55697	VAC14	ORPHA:3472
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9326	ZNHIT3	OMIM:260565
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5277	PIGA	OMIM:300868
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8722	CTSF	OMIM:615362
HP:0007367	Atrophy/Degeneration affecting the central nervous system	221927	BRAT1	OMIM:614498
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5660	PSAP	OMIM:611721
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4287	ATXN3	OMIM:168600
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2629	GBA1	OMIM:168600
HP:0007367	Atrophy/Degeneration affecting the central nervous system	126	ADH1C	OMIM:168600
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4576	MT-TT	OMIM:168600
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9627	SNCAIP	OMIM:168600
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6908	TBP	OMIM:168600
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6908	TBP	ORPHA:98759
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6908	TBP	OMIM:607136
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4929	NR4A2	OMIM:168600
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6315	ATXN8OS	OMIM:168600
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57582	KCNT1	OMIM:614959
HP:0007367	Atrophy/Degeneration affecting the central nervous system	3064	HTT	OMIM:143100
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23064	SETX	OMIM:602433
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6687	SPG7	ORPHA:35689
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10908	PNPLA6	ORPHA:139480
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10908	PNPLA6	OMIM:612020
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9420	CYP7B1	ORPHA:100986
HP:0007367	Atrophy/Degeneration affecting the central nervous system	22948	CCT5	OMIM:256840
HP:0007367	Atrophy/Degeneration affecting the central nervous system	80208	SPG11	ORPHA:2822
HP:0007367	Atrophy/Degeneration affecting the central nervous system	25974	MMACHC	ORPHA:79282
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5832	ALDH18A1	ORPHA:447757
HP:0007367	Atrophy/Degeneration affecting the central nervous system	79989	IFT56	OMIM:619534
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4208	MEF2C	ORPHA:228384
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2892	GRIA3	OMIM:300699
HP:0007367	Atrophy/Degeneration affecting the central nervous system	55681	SCYL2	OMIM:618766
HP:0007367	Atrophy/Degeneration affecting the central nervous system	3097	HIVEP2	OMIM:616977
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51099	ABHD5	ORPHA:98907
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7167	TPI1	ORPHA:868
HP:0007367	Atrophy/Degeneration affecting the central nervous system	11277	TREX1	OMIM:192315
HP:0007367	Atrophy/Degeneration affecting the central nervous system	112755	STX1B	ORPHA:36387
HP:0007367	Atrophy/Degeneration affecting the central nervous system	112476	PRRT2	ORPHA:36387
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5147	PDE6D	OMIM:615665
HP:0007367	Atrophy/Degeneration affecting the central nervous system	104	ADARB1	OMIM:618862
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4508	MT-ATP6	ORPHA:644
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4508	MT-ATP6	OMIM:551500
HP:0007367	Atrophy/Degeneration affecting the central nervous system	56652	TWNK	OMIM:607459
HP:0007367	Atrophy/Degeneration affecting the central nervous system	56652	TWNK	ORPHA:70595
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1540	CYLD	OMIM:619132
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7072	TIA1	OMIM:619133
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57679	ALS2	OMIM:205100
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57679	ALS2	ORPHA:300605
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7277	TUBA4A	OMIM:616208
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10280	SIGMAR1	ORPHA:300605
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10280	SIGMAR1	OMIM:614373
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10558	SPTLC1	ORPHA:300605
HP:0007367	Atrophy/Degeneration affecting the central nervous system	3798	KIF5A	OMIM:617921
HP:0007367	Atrophy/Degeneration affecting the central nervous system	54822	TRPM7	OMIM:105500
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10059	DNM1L	ORPHA:98673
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4976	OPA1	ORPHA:98673
HP:0007367	Atrophy/Degeneration affecting the central nervous system	535	ATP6V0A1	OMIM:619971
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10466	COG5	ORPHA:263487
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10466	COG5	OMIM:613612
HP:0007367	Atrophy/Degeneration affecting the central nervous system	84340	GFM2	ORPHA:565624
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2775	GNAO1	OMIM:617493
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8913	CACNA1G	ORPHA:458803
HP:0007367	Atrophy/Degeneration affecting the central nervous system	11284	PNKP	OMIM:616267
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23345	SYNE1	ORPHA:88644
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9512	PMPCB	OMIM:617954
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6709	SPTAN1	OMIM:613477
HP:0007367	Atrophy/Degeneration affecting the central nervous system	131118	DNAJC19	ORPHA:66634
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7355	SLC35A2	ORPHA:356961
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8560	DEGS1	OMIM:618404
HP:0007367	Atrophy/Degeneration affecting the central nervous system	90624	LYRM7	OMIM:615838
HP:0007367	Atrophy/Degeneration affecting the central nervous system	60481	ELOVL5	OMIM:615957
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10667	FARS2	OMIM:614946
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51608	GET4	OMIM:620200
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5611	DNAJC3	OMIM:616192
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5611	DNAJC3	ORPHA:445062
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10715	CERS1	OMIM:616230
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10935	PRDX3	OMIM:619862
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8295	TRRAP	OMIM:618454
HP:0007367	Atrophy/Degeneration affecting the central nervous system	122553	TRAPPC6B	OMIM:617862
HP:0007367	Atrophy/Degeneration affecting the central nervous system	84342	COG8	OMIM:611182
HP:0007367	Atrophy/Degeneration affecting the central nervous system	84342	COG8	ORPHA:95428
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1892	ECHS1	OMIM:616277
HP:0007367	Atrophy/Degeneration affecting the central nervous system	246243	RNASEH1	OMIM:616479
HP:0007367	Atrophy/Degeneration affecting the central nervous system	478	ATP1A3	OMIM:619606
HP:0007367	Atrophy/Degeneration affecting the central nervous system	3708	ITPR1	OMIM:117360
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57038	RARS2	OMIM:611523
HP:0007367	Atrophy/Degeneration affecting the central nervous system	27445	PCLO	OMIM:608027
HP:0007367	Atrophy/Degeneration affecting the central nervous system	25885	POLR1A	OMIM:620675
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4001	LMNB1	ORPHA:99027
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6310	ATXN1	ORPHA:98755
HP:0007367	Atrophy/Degeneration affecting the central nervous system	79718	TBL1XR1	ORPHA:487825
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4099	MAG	OMIM:616680
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4125	MAN2B1	OMIM:248500
HP:0007367	Atrophy/Degeneration affecting the central nervous system	777	CACNA1E	OMIM:618285
HP:0007367	Atrophy/Degeneration affecting the central nervous system	84631	SLITRK2	OMIM:301107
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51728	POLR3K	OMIM:619310
HP:0007367	Atrophy/Degeneration affecting the central nervous system	27247	NFU1	OMIM:620938
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10273	STUB1	ORPHA:412057
HP:0007367	Atrophy/Degeneration affecting the central nervous system	3295	HSD17B4	OMIM:261515
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4191	MDH2	OMIM:617339
HP:0007367	Atrophy/Degeneration affecting the central nervous system	27072	VPS41	OMIM:619389
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51761	ATP8A2	OMIM:615268
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8890	EIF2B4	OMIM:620314
HP:0007367	Atrophy/Degeneration affecting the central nervous system	90952	ESAM	OMIM:620371
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6804	STX1A	ORPHA:904
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7461	CLIP2	ORPHA:904
HP:0007367	Atrophy/Degeneration affecting the central nervous system	84277	DNAJC30	ORPHA:904
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8468	FKBP6	ORPHA:904
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5982	RFC2	ORPHA:904
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2969	GTF2I	ORPHA:904
HP:0007367	Atrophy/Degeneration affecting the central nervous system	3984	LIMK1	ORPHA:904
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9569	GTF2IRD1	ORPHA:904
HP:0007367	Atrophy/Degeneration affecting the central nervous system	155382	VPS37D	ORPHA:904
HP:0007367	Atrophy/Degeneration affecting the central nervous system	155368	METTL27	ORPHA:904
HP:0007367	Atrophy/Degeneration affecting the central nervous system	114049	BUD23	ORPHA:904
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7458	EIF4H	ORPHA:904
HP:0007367	Atrophy/Degeneration affecting the central nervous system	84163	GTF2IRD2	ORPHA:904
HP:0007367	Atrophy/Degeneration affecting the central nervous system	26608	TBL2	ORPHA:904
HP:0007367	Atrophy/Degeneration affecting the central nervous system	653361	NCF1	ORPHA:904
HP:0007367	Atrophy/Degeneration affecting the central nervous system	135886	TMEM270	ORPHA:904
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9031	BAZ1B	ORPHA:904
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2006	ELN	ORPHA:904
HP:0007367	Atrophy/Degeneration affecting the central nervous system	55131	RBM28	ORPHA:157954
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5575	PRKAR1B	ORPHA:412066
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23636	NUP62	ORPHA:225154
HP:0007367	Atrophy/Degeneration affecting the central nervous system	53371	NUP54	ORPHA:225154
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2670	GFAP	ORPHA:363722
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4747	NEFL	ORPHA:101085
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5297	PI4KA	OMIM:619621
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2395	FXN	ORPHA:95
HP:0007367	Atrophy/Degeneration affecting the central nervous system	80222	TARS2	OMIM:615918
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4692	NDN	ORPHA:177904
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4692	NDN	ORPHA:177901
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4692	NDN	ORPHA:98754
HP:0007367	Atrophy/Degeneration affecting the central nervous system	54551	MAGEL2	ORPHA:177904
HP:0007367	Atrophy/Degeneration affecting the central nervous system	54551	MAGEL2	ORPHA:177901
HP:0007367	Atrophy/Degeneration affecting the central nervous system	54551	MAGEL2	ORPHA:98754
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4948	OCA2	ORPHA:177904
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4948	OCA2	ORPHA:177901
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4948	OCA2	ORPHA:98754
HP:0007367	Atrophy/Degeneration affecting the central nervous system	26278	SACS	ORPHA:98
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5927	KDM5A	OMIM:620820
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10430	TMEM147	OMIM:620075
HP:0007367	Atrophy/Degeneration affecting the central nervous system	85440	DOCK7	ORPHA:411986
HP:0007367	Atrophy/Degeneration affecting the central nervous system	64072	CDH23	ORPHA:231169
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10083	USH1C	ORPHA:231169
HP:0007367	Atrophy/Degeneration affecting the central nervous system	124590	USH1G	ORPHA:231169
HP:0007367	Atrophy/Degeneration affecting the central nervous system	83715	ESPN	ORPHA:231169
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10518	CIB2	ORPHA:231169
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4647	MYO7A	ORPHA:231169
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4647	MYO7A	ORPHA:231178
HP:0007367	Atrophy/Degeneration affecting the central nervous system	65217	PCDH15	ORPHA:231169
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4644	MYO5A	ORPHA:33445
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7399	USH2A	ORPHA:231178
HP:0007367	Atrophy/Degeneration affecting the central nervous system	79955	PDZD7	ORPHA:231178
HP:0007367	Atrophy/Degeneration affecting the central nervous system	25861	WHRN	ORPHA:231178
HP:0007367	Atrophy/Degeneration affecting the central nervous system	84059	ADGRV1	ORPHA:231178
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23729	SHPK	ORPHA:440713
HP:0007367	Atrophy/Degeneration affecting the central nervous system	79813	EHMT1	ORPHA:96147
HP:0007367	Atrophy/Degeneration affecting the central nervous system	71	ACTG1	ORPHA:2995
HP:0007367	Atrophy/Degeneration affecting the central nervous system	60	ACTB	ORPHA:2995
HP:0007367	Atrophy/Degeneration affecting the central nervous system	54664	TMEM106B	ORPHA:100069
HP:0007367	Atrophy/Degeneration affecting the central nervous system	55906	ZC4H2	OMIM:301041
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4558	MT-TF	ORPHA:550
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4572	MT-TQ	ORPHA:550
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4512	MT-CO1	ORPHA:550
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4513	MT-CO2	ORPHA:550
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4514	MT-CO3	ORPHA:550
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4578	MT-TW	ORPHA:550
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4540	MT-ND5	ORPHA:550
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4541	MT-ND6	ORPHA:550
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4535	MT-ND1	ORPHA:550
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4538	MT-ND4	ORPHA:550
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4567	MT-TL1	ORPHA:550
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4574	MT-TS1	ORPHA:550
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4575	MT-TS2	ORPHA:550
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4564	MT-TH	ORPHA:550
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4524	MTHFR	ORPHA:395
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51399	TRAPPC4	OMIM:618741
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4723	NDUFV1	OMIM:618225
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9853	RUSC2	OMIM:617773
HP:0007367	Atrophy/Degeneration affecting the central nervous system	54517	PUS7	OMIM:618342
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5994	RFXAP	OMIM:620817
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1161	ERCC8	ORPHA:90324
HP:0007367	Atrophy/Degeneration affecting the central nervous system	54973	INTS11	OMIM:620428
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4719	NDUFS1	OMIM:618226
HP:0007367	Atrophy/Degeneration affecting the central nervous system	55746	NUP133	OMIM:618349
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4720	NDUFS2	OMIM:618228
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4729	NDUFV2	OMIM:618229
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10274	STAG1	ORPHA:502434
HP:0007367	Atrophy/Degeneration affecting the central nervous system	84320	ACBD6	OMIM:620785
HP:0007367	Atrophy/Degeneration affecting the central nervous system	132158	GLYCTK	ORPHA:941
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1729	DIAPH1	ORPHA:477814
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6341	SCO1	OMIM:619048
HP:0007367	Atrophy/Degeneration affecting the central nervous system	126328	NDUFA11	OMIM:618236
HP:0007367	Atrophy/Degeneration affecting the central nervous system	113179	ADAT3	ORPHA:363528
HP:0007367	Atrophy/Degeneration affecting the central nervous system	113179	ADAT3	OMIM:615286
HP:0007367	Atrophy/Degeneration affecting the central nervous system	283489	CHAMP1	OMIM:616579
HP:0007367	Atrophy/Degeneration affecting the central nervous system	22880	MORC2	ORPHA:466768
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4552	MTRR	ORPHA:2169
HP:0007367	Atrophy/Degeneration affecting the central nervous system	65082	VPS33A	OMIM:617303
HP:0007367	Atrophy/Degeneration affecting the central nervous system	65082	VPS33A	ORPHA:505248
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10730	YME1L1	OMIM:617302
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9640	ZNF592	ORPHA:83472
HP:0007367	Atrophy/Degeneration affecting the central nervous system	84942	WDR73	ORPHA:83472
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8312	AXIN1	OMIM:620558
HP:0007367	Atrophy/Degeneration affecting the central nervous system	56246	MRAP	OMIM:607398
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9382	COG1	OMIM:611209
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1353	COX11	OMIM:620275
HP:0007367	Atrophy/Degeneration affecting the central nervous system	79068	FTO	OMIM:612938
HP:0007367	Atrophy/Degeneration affecting the central nervous system	427	ASAH1	ORPHA:333
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2895	GRID2	ORPHA:363432
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1351	COX8A	OMIM:619059
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10134	BCAP31	ORPHA:369939
HP:0007367	Atrophy/Degeneration affecting the central nervous system	3899	AFF3	OMIM:619297
HP:0007367	Atrophy/Degeneration affecting the central nervous system	166378	AFG2A	ORPHA:457351
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2072	ERCC4	OMIM:278760
HP:0007367	Atrophy/Degeneration affecting the central nervous system	11080	DNAJB4	OMIM:620326
HP:0007367	Atrophy/Degeneration affecting the central nervous system	27315	PGAP2	OMIM:614207
HP:0007367	Atrophy/Degeneration affecting the central nervous system	400569	MED11	OMIM:620327
HP:0007367	Atrophy/Degeneration affecting the central nervous system	93627	TBCK	OMIM:616900
HP:0007367	Atrophy/Degeneration affecting the central nervous system	29967	LRP12	OMIM:164310
HP:0007367	Atrophy/Degeneration affecting the central nervous system	501	ALDH7A1	ORPHA:3006
HP:0007367	Atrophy/Degeneration affecting the central nervous system	11212	PLPBP	ORPHA:3006
HP:0007367	Atrophy/Degeneration affecting the central nervous system	11212	PLPBP	OMIM:617290
HP:0007367	Atrophy/Degeneration affecting the central nervous system	84504	NKX6-2	OMIM:617560
HP:0007367	Atrophy/Degeneration affecting the central nervous system	283987	HID1	OMIM:619983
HP:0007367	Atrophy/Degeneration affecting the central nervous system	56479	KCNQ5	OMIM:617601
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23065	EMC1	OMIM:616875
HP:0007367	Atrophy/Degeneration affecting the central nervous system	124997	WDR81	OMIM:617967
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6785	ELOVL4	OMIM:614457
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2752	GLUL	OMIM:610015
HP:0007367	Atrophy/Degeneration affecting the central nervous system	3737	KCNA2	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1759	DNM1	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1759	DNM1	OMIM:620352
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8120	AP3B2	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	523	ATP6V1A	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10991	SLC38A3	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51343	FZR1	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	3747	KCNC2	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1917	EEF1A2	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23219	FBXO28	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23219	FBXO28	OMIM:619777
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2561	GABRB2	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8831	SYNGAP1	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8831	SYNGAP1	OMIM:612621
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2558	GABRA5	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2906	GRIN2D	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	116150	NUS1	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	1213	CLTC	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51741	WWOX	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23334	SZT2	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	348980	HCN1	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	25977	NECAP1	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	25977	NECAP1	OMIM:615833
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23241	PACS2	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	16	AARS1	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6334	SCN8A	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9568	GABBR2	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2555	GABRA2	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	55152	DALRD3	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	26999	CYFIP2	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4915	NTRK2	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	25973	PARS2	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	23097	CDK19	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2257	FGF12	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5530	PPP3CA	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	22906	TRAK1	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2566	GABRG2	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7532	YWHAG	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	79876	UBA5	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6328	SCN3A	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	781	CACNA2D1	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10659	CELF2	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	774	CACNA1B	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51412	ACTL6B	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2290	FOXG1	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6506	SLC1A2	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8867	SYNJ1	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8867	SYNJ1	ORPHA:391411
HP:0007367	Atrophy/Degeneration affecting the central nervous system	477	ATP1A2	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	3745	KCNB1	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	284111	SLC13A5	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	22866	CNKSR2	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	773	CACNA1A	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6323	SCN1A	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	79947	DHDDS	ORPHA:442835
HP:0007367	Atrophy/Degeneration affecting the central nervous system	84947	SERAC1	OMIM:614739
HP:0007367	Atrophy/Degeneration affecting the central nervous system	26834	RNU4-2	OMIM:620851
HP:0007367	Atrophy/Degeneration affecting the central nervous system	374654	KIF7	OMIM:607131
HP:0007367	Atrophy/Degeneration affecting the central nervous system	26227	PHGDH	OMIM:256520
HP:0007367	Atrophy/Degeneration affecting the central nervous system	443	ASPA	OMIM:271900
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51241	COX16	OMIM:619355
HP:0007367	Atrophy/Degeneration affecting the central nervous system	149371	EXOC8	OMIM:619076
HP:0007367	Atrophy/Degeneration affecting the central nervous system	28962	OSTM1	ORPHA:85179
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10846	PDE10A	ORPHA:494526
HP:0007367	Atrophy/Degeneration affecting the central nervous system	56006	SMG9	OMIM:616920
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51002	TPRKB	OMIM:617731
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8239	USP9X	ORPHA:480880
HP:0007367	Atrophy/Degeneration affecting the central nervous system	3704	ITPA	OMIM:616647
HP:0007367	Atrophy/Degeneration affecting the central nervous system	55823	VPS11	OMIM:619637
HP:0007367	Atrophy/Degeneration affecting the central nervous system	79751	SLC25A22	OMIM:609304
HP:0007367	Atrophy/Degeneration affecting the central nervous system	378884	NHLRC1	ORPHA:501
HP:0007367	Atrophy/Degeneration affecting the central nervous system	7957	EPM2A	ORPHA:501
HP:0007367	Atrophy/Degeneration affecting the central nervous system	79759	ZNF668	OMIM:620194
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9829	DNAJC6	ORPHA:391411
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5420	PODXL	ORPHA:391411
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51611	DPH5	OMIM:620070
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4247	MGAT2	ORPHA:79329
HP:0007367	Atrophy/Degeneration affecting the central nervous system	51360	MBTPS2	OMIM:308205
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6305	SBF1	OMIM:615284
HP:0007367	Atrophy/Degeneration affecting the central nervous system	374354	NHLRC2	OMIM:618278
HP:0007367	Atrophy/Degeneration affecting the central nervous system	128240	NAXE	OMIM:617186
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57570	TRMT5	OMIM:616539
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5591	PRKDC	OMIM:615966
HP:0007367	Atrophy/Degeneration affecting the central nervous system	9409	PEX16	OMIM:614877
HP:0007367	Atrophy/Degeneration affecting the central nervous system	539	ATP5PO	OMIM:620359
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57462	MYORG	OMIM:618317
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8911	CACNA1I	OMIM:620114
HP:0007367	Atrophy/Degeneration affecting the central nervous system	91949	COG7	ORPHA:79333
HP:0007367	Atrophy/Degeneration affecting the central nervous system	84628	NTNG2	OMIM:618718
HP:0007367	Atrophy/Degeneration affecting the central nervous system	3181	HNRNPA2B1	ORPHA:52430
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4854	NOTCH3	ORPHA:136
HP:0007367	Atrophy/Degeneration affecting the central nervous system	4677	NARS1	OMIM:619092
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2261	FGFR3	ORPHA:85165
HP:0007367	Atrophy/Degeneration affecting the central nervous system	50628	GEMIN4	OMIM:617913
HP:0007367	Atrophy/Degeneration affecting the central nervous system	875	CBS	OMIM:236200
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10195	ALG3	ORPHA:79321
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6509	SLC1A4	ORPHA:447997
HP:0007367	Atrophy/Degeneration affecting the central nervous system	2801	GOLGA2	OMIM:620240
HP:0007367	Atrophy/Degeneration affecting the central nervous system	64802	NMNAT1	OMIM:619260
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5654	HTRA1	OMIM:600142
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6567	SLC16A2	ORPHA:59
HP:0007367	Atrophy/Degeneration affecting the central nervous system	55181	SMG8	OMIM:619268
HP:0007367	Atrophy/Degeneration affecting the central nervous system	63925	ZNF335	ORPHA:329228
HP:0007367	Atrophy/Degeneration affecting the central nervous system	22930	RAB3GAP1	OMIM:619420
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8625	RFXANK	OMIM:620815
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10535	RNASEH2A	ORPHA:51
HP:0007367	Atrophy/Degeneration affecting the central nervous system	84153	RNASEH2C	ORPHA:51
HP:0007367	Atrophy/Degeneration affecting the central nervous system	25939	SAMHD1	ORPHA:51
HP:0007367	Atrophy/Degeneration affecting the central nervous system	79621	RNASEH2B	ORPHA:51
HP:0007367	Atrophy/Degeneration affecting the central nervous system	103	ADAR	ORPHA:51
HP:0007367	Atrophy/Degeneration affecting the central nervous system	100147744	RNU7-1	ORPHA:51
HP:0007367	Atrophy/Degeneration affecting the central nervous system	134353	LSM11	ORPHA:51
HP:0007367	Atrophy/Degeneration affecting the central nervous system	64135	IFIH1	ORPHA:51
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5813	PURA	ORPHA:314655
HP:0007367	Atrophy/Degeneration affecting the central nervous system	8622	PDE8B	OMIM:609161
HP:0007367	Atrophy/Degeneration affecting the central nervous system	6515	SLC2A3	ORPHA:399
HP:0007367	Atrophy/Degeneration affecting the central nervous system	5664	PSEN2	OMIM:606889
HP:0007367	Atrophy/Degeneration affecting the central nervous system	348	APOE	OMIM:606889
HP:0007367	Atrophy/Degeneration affecting the central nervous system	10347	ABCA7	OMIM:608907
HP:0007367	Atrophy/Degeneration affecting the central nervous system	100151683	RNU4ATAC	ORPHA:353298
HP:0007367	Atrophy/Degeneration affecting the central nervous system	57094	CPA6	OMIM:614418
HP:0007367	Atrophy/Degeneration affecting the central nervous system	29998	BICRA	OMIM:619325
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5274	SERPINI1	OMIM:604218
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10749	KIF1C	ORPHA:397946
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10749	KIF1C	OMIM:611302
HP:0007369	Atrophy/Degeneration affecting the cerebrum	3064	HTT	ORPHA:399
HP:0007369	Atrophy/Degeneration affecting the cerebrum	3064	HTT	OMIM:617435
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6515	SLC2A3	ORPHA:399
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1497	CTNS	OMIM:219800
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23394	ADNP	ORPHA:404448
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10617	STAMBP	OMIM:614261
HP:0007369	Atrophy/Degeneration affecting the cerebrum	26235	FBXL4	OMIM:615471
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5723	PSPH	OMIM:614023
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2775	GNAO1	OMIM:615473
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2775	GNAO1	OMIM:617493
HP:0007369	Atrophy/Degeneration affecting the cerebrum	51569	UFM1	OMIM:617899
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6873	TAF2	OMIM:615599
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6873	TAF2	ORPHA:397951
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10059	DNM1L	OMIM:614388
HP:0007369	Atrophy/Degeneration affecting the cerebrum	60684	TRAPPC11	OMIM:615356
HP:0007369	Atrophy/Degeneration affecting the cerebrum	60684	TRAPPC11	ORPHA:369847
HP:0007369	Atrophy/Degeneration affecting the cerebrum	81857	MED25	OMIM:616449
HP:0007369	Atrophy/Degeneration affecting the cerebrum	81857	MED25	ORPHA:464738
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2720	GLB1	OMIM:230600
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1786	DNMT1	ORPHA:314404
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1786	DNMT1	OMIM:614116
HP:0007369	Atrophy/Degeneration affecting the cerebrum	84942	WDR73	OMIM:251300
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4552	MTRR	OMIM:236270
HP:0007369	Atrophy/Degeneration affecting the cerebrum	57165	GJC2	OMIM:608804
HP:0007369	Atrophy/Degeneration affecting the cerebrum	3074	HEXB	ORPHA:309162
HP:0007369	Atrophy/Degeneration affecting the cerebrum	65267	WNK3	OMIM:309610
HP:0007369	Atrophy/Degeneration affecting the cerebrum	51741	WWOX	OMIM:616211
HP:0007369	Atrophy/Degeneration affecting the cerebrum	51741	WWOX	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	477	ATP1A2	OMIM:619605
HP:0007369	Atrophy/Degeneration affecting the cerebrum	477	ATP1A2	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	101060691	NUTM2B-AS1	OMIM:618637
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1841	DTYMK	OMIM:619847
HP:0007369	Atrophy/Degeneration affecting the cerebrum	375387	NRROS	OMIM:618875
HP:0007369	Atrophy/Degeneration affecting the cerebrum	54982	CLN6	OMIM:204300
HP:0007369	Atrophy/Degeneration affecting the cerebrum	16	AARS1	OMIM:616339
HP:0007369	Atrophy/Degeneration affecting the cerebrum	16	AARS1	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5610	EIF2AK2	OMIM:618877
HP:0007369	Atrophy/Degeneration affecting the cerebrum	55768	NGLY1	ORPHA:404454
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1161	ERCC8	OMIM:216400
HP:0007369	Atrophy/Degeneration affecting the cerebrum	79693	YRDC	OMIM:619609
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23250	ATP11A	OMIM:619851
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7345	UCHL1	OMIM:615491
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5105	PCK1	OMIM:261680
HP:0007369	Atrophy/Degeneration affecting the cerebrum	9698	PUM1	OMIM:620719
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7343	UBTF	OMIM:617672
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7343	UBTF	ORPHA:500180
HP:0007369	Atrophy/Degeneration affecting the cerebrum	91869	RFT1	ORPHA:244310
HP:0007369	Atrophy/Degeneration affecting the cerebrum	91869	RFT1	OMIM:612015
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6573	SLC19A1	OMIM:620603
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2074	ERCC6	OMIM:278800
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2074	ERCC6	OMIM:133540
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1716	DGUOK	OMIM:251880
HP:0007369	Atrophy/Degeneration affecting the cerebrum	833	CARS1	OMIM:618891
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5833	PCYT2	OMIM:618770
HP:0007369	Atrophy/Degeneration affecting the cerebrum	57178	ZMIZ1	OMIM:618659
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1201	CLN3	OMIM:204200
HP:0007369	Atrophy/Degeneration affecting the cerebrum	3737	KCNA2	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1759	DNM1	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8120	AP3B2	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8120	AP3B2	OMIM:617276
HP:0007369	Atrophy/Degeneration affecting the cerebrum	523	ATP6V1A	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	523	ATP6V1A	OMIM:618012
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10991	SLC38A3	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	51343	FZR1	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	3747	KCNC2	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1917	EEF1A2	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1917	EEF1A2	OMIM:616393
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23219	FBXO28	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23219	FBXO28	OMIM:619777
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2561	GABRB2	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8831	SYNGAP1	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2558	GABRA5	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2906	GRIN2D	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2906	GRIN2D	OMIM:617162
HP:0007369	Atrophy/Degeneration affecting the cerebrum	116150	NUS1	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1213	CLTC	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23334	SZT2	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	348980	HCN1	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	25977	NECAP1	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23241	PACS2	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6334	SCN8A	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6334	SCN8A	OMIM:614558
HP:0007369	Atrophy/Degeneration affecting the cerebrum	9568	GABBR2	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2555	GABRA2	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	55152	DALRD3	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	26999	CYFIP2	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	26999	CYFIP2	OMIM:618008
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4915	NTRK2	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	25973	PARS2	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23097	CDK19	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23097	CDK19	OMIM:618916
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2257	FGF12	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5530	PPP3CA	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5530	PPP3CA	OMIM:617711
HP:0007369	Atrophy/Degeneration affecting the cerebrum	478	ATP1A3	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	22906	TRAK1	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2566	GABRG2	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7532	YWHAG	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	79876	UBA5	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	79876	UBA5	OMIM:617132
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6328	SCN3A	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	781	CACNA2D1	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10659	CELF2	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	774	CACNA1B	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	774	CACNA1B	OMIM:618497
HP:0007369	Atrophy/Degeneration affecting the cerebrum	51412	ACTL6B	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	51412	ACTL6B	OMIM:618468
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2290	FOXG1	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6506	SLC1A2	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6506	SLC1A2	OMIM:617105
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8867	SYNJ1	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	3745	KCNB1	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	284111	SLC13A5	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	22866	CNKSR2	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	773	CACNA1A	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6323	SCN1A	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6323	SCN1A	ORPHA:293181
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6323	SCN1A	OMIM:607208
HP:0007369	Atrophy/Degeneration affecting the cerebrum	79947	DHDDS	ORPHA:442835
HP:0007369	Atrophy/Degeneration affecting the cerebrum	26040	SETBP1	OMIM:269150
HP:0007369	Atrophy/Degeneration affecting the cerebrum	26834	RNU4-2	OMIM:620851
HP:0007369	Atrophy/Degeneration affecting the cerebrum	9895	TECPR2	OMIM:615031
HP:0007369	Atrophy/Degeneration affecting the cerebrum	9895	TECPR2	ORPHA:320385
HP:0007369	Atrophy/Degeneration affecting the cerebrum	51604	PIGT	OMIM:615398
HP:0007369	Atrophy/Degeneration affecting the cerebrum	84504	NKX6-2	ORPHA:527497
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23126	POGZ	OMIM:616364
HP:0007369	Atrophy/Degeneration affecting the cerebrum	54902	TTC19	OMIM:615157
HP:0007369	Atrophy/Degeneration affecting the cerebrum	92609	TIMM50	OMIM:617698
HP:0007369	Atrophy/Degeneration affecting the cerebrum	92609	TIMM50	ORPHA:505216
HP:0007369	Atrophy/Degeneration affecting the cerebrum	51692	CPSF3	OMIM:619876
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8021	NUP214	OMIM:618426
HP:0007369	Atrophy/Degeneration affecting the cerebrum	285362	SUMF1	OMIM:272200
HP:0007369	Atrophy/Degeneration affecting the cerebrum	56052	ALG1	ORPHA:79327
HP:0007369	Atrophy/Degeneration affecting the cerebrum	56052	ALG1	OMIM:608540
HP:0007369	Atrophy/Degeneration affecting the cerebrum	79796	ALG9	ORPHA:79328
HP:0007369	Atrophy/Degeneration affecting the cerebrum	79796	ALG9	OMIM:608776
HP:0007369	Atrophy/Degeneration affecting the cerebrum	54828	BCAS3	OMIM:619641
HP:0007369	Atrophy/Degeneration affecting the cerebrum	253959	RALGAPA1	OMIM:618797
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4076	CAPRIN1	OMIM:620636
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6621	SNAPC4	OMIM:620515
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10531	PITRM1	OMIM:619405
HP:0007369	Atrophy/Degeneration affecting the cerebrum	256471	MFSD8	OMIM:610951
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2271	FH	OMIM:606812
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23556	PIGN	OMIM:614080
HP:0007369	Atrophy/Degeneration affecting the cerebrum	55739	NAXD	OMIM:618321
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23162	MAPK8IP3	OMIM:618443
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5917	RARS1	OMIM:616140
HP:0007369	Atrophy/Degeneration affecting the cerebrum	259232	NALCN	OMIM:616266
HP:0007369	Atrophy/Degeneration affecting the cerebrum	339855	KY	ORPHA:496689
HP:0007369	Atrophy/Degeneration affecting the cerebrum	3785	KCNQ2	ORPHA:439218
HP:0007369	Atrophy/Degeneration affecting the cerebrum	3785	KCNQ2	ORPHA:293181
HP:0007369	Atrophy/Degeneration affecting the cerebrum	29960	MRM2	OMIM:618567
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23189	KANK1	OMIM:612900
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2055	CLN8	ORPHA:1947
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2055	CLN8	OMIM:600143
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2055	CLN8	OMIM:610003
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8813	DPM1	ORPHA:79322
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10195	ALG3	OMIM:601110
HP:0007369	Atrophy/Degeneration affecting the cerebrum	26100	WIPI2	OMIM:618453
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10533	ATG7	OMIM:619422
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7040	TGFB1	OMIM:618213
HP:0007369	Atrophy/Degeneration affecting the cerebrum	81570	CLPB	OMIM:616271
HP:0007369	Atrophy/Degeneration affecting the cerebrum	81570	CLPB	ORPHA:445038
HP:0007369	Atrophy/Degeneration affecting the cerebrum	51117	COQ4	OMIM:616276
HP:0007369	Atrophy/Degeneration affecting the cerebrum	133686	NADK2	OMIM:616034
HP:0007369	Atrophy/Degeneration affecting the cerebrum	51693	TRAPPC2L	OMIM:618331
HP:0007369	Atrophy/Degeneration affecting the cerebrum	84188	FAR1	OMIM:616154
HP:0007369	Atrophy/Degeneration affecting the cerebrum	27133	KCNH5	OMIM:620537
HP:0007369	Atrophy/Degeneration affecting the cerebrum	27429	HTRA2	OMIM:617248
HP:0007369	Atrophy/Degeneration affecting the cerebrum	58497	PRUNE1	ORPHA:544469
HP:0007369	Atrophy/Degeneration affecting the cerebrum	51013	EXOSC1	OMIM:619304
HP:0007369	Atrophy/Degeneration affecting the cerebrum	140679	SLC32A1	OMIM:620774
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5277	PIGA	OMIM:301072
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5277	PIGA	OMIM:300868
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5277	PIGA	ORPHA:293181
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4137	MAPT	OMIM:601104
HP:0007369	Atrophy/Degeneration affecting the cerebrum	9759	HDAC4	OMIM:619797
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23516	SLC39A14	OMIM:617013
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23516	SLC39A14	ORPHA:521406
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8506	CNTNAP1	OMIM:616286
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1317	SLC31A1	OMIM:620306
HP:0007369	Atrophy/Degeneration affecting the cerebrum	54973	INTS11	OMIM:620428
HP:0007369	Atrophy/Degeneration affecting the cerebrum	9526	MPDU1	OMIM:609180
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4838	NODAL	OMIM:270100
HP:0007369	Atrophy/Degeneration affecting the cerebrum	128869	PIGU	OMIM:618590
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10733	PLK4	OMIM:616171
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7084	TK2	ORPHA:254886
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7084	TK2	OMIM:609560
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5428	POLG	ORPHA:254886
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5428	POLG	OMIM:203700
HP:0007369	Atrophy/Degeneration affecting the cerebrum	11277	TREX1	OMIM:225750
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4695	NDUFA2	OMIM:618235
HP:0007369	Atrophy/Degeneration affecting the cerebrum	79868	ALG13	OMIM:300884
HP:0007369	Atrophy/Degeneration affecting the cerebrum	57520	HECW2	OMIM:617268
HP:0007369	Atrophy/Degeneration affecting the cerebrum	112939	NACC1	ORPHA:500545
HP:0007369	Atrophy/Degeneration affecting the cerebrum	112939	NACC1	OMIM:617393
HP:0007369	Atrophy/Degeneration affecting the cerebrum	11152	WDR45	ORPHA:329284
HP:0007369	Atrophy/Degeneration affecting the cerebrum	11152	WDR45	OMIM:300894
HP:0007369	Atrophy/Degeneration affecting the cerebrum	25885	POLR1A	OMIM:620675
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1760	DMPK	OMIM:160900
HP:0007369	Atrophy/Degeneration affecting the cerebrum	154881	KCTD7	OMIM:611726
HP:0007369	Atrophy/Degeneration affecting the cerebrum	154881	KCTD7	ORPHA:263516
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5934	RBL2	OMIM:619690
HP:0007369	Atrophy/Degeneration affecting the cerebrum	79709	COLGALT1	OMIM:618360
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5071	PRKN	OMIM:600116
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4784	NFIX	OMIM:602535
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4784	NFIX	ORPHA:447980
HP:0007369	Atrophy/Degeneration affecting the cerebrum	84340	GFM2	ORPHA:565624
HP:0007369	Atrophy/Degeneration affecting the cerebrum	84340	GFM2	OMIM:618397
HP:0007369	Atrophy/Degeneration affecting the cerebrum	63925	ZNF335	OMIM:615095
HP:0007369	Atrophy/Degeneration affecting the cerebrum	22930	RAB3GAP1	OMIM:600118
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4704	NDUFA9	OMIM:618247
HP:0007369	Atrophy/Degeneration affecting the cerebrum	79641	ROGDI	OMIM:226750
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6601	SMARCC2	OMIM:618362
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8260	NAA10	OMIM:300855
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8260	NAA10	ORPHA:276432
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7965	AIMP2	OMIM:618006
HP:0007369	Atrophy/Degeneration affecting the cerebrum	549	AUH	OMIM:250950
HP:0007369	Atrophy/Degeneration affecting the cerebrum	56652	TWNK	OMIM:609286
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6821	SUOX	OMIM:272300
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1781	DYNC1I2	OMIM:618492
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5611	DNAJC3	OMIM:616192
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5611	DNAJC3	ORPHA:445062
HP:0007369	Atrophy/Degeneration affecting the cerebrum	127833	SYT2	OMIM:619461
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8802	SUCLG1	ORPHA:17
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8802	SUCLG1	OMIM:245400
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4714	NDUFB8	OMIM:618252
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1822	ATN1	OMIM:618494
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4761	NEUROD2	OMIM:618374
HP:0007369	Atrophy/Degeneration affecting the cerebrum	84896	ATAD1	OMIM:618011
HP:0007369	Atrophy/Degeneration affecting the cerebrum	220296	HEPACAM	OMIM:613925
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4548	MTR	OMIM:250940
HP:0007369	Atrophy/Degeneration affecting the cerebrum	3028	HSD17B10	ORPHA:391428
HP:0007369	Atrophy/Degeneration affecting the cerebrum	83480	PUS3	OMIM:617051
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8943	AP3D1	OMIM:617050
HP:0007369	Atrophy/Degeneration affecting the cerebrum	80347	COASY	OMIM:618266
HP:0007369	Atrophy/Degeneration affecting the cerebrum	57498	KIDINS220	OMIM:617296
HP:0007369	Atrophy/Degeneration affecting the cerebrum	3975	LHX1	ORPHA:261265
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6928	HNF1B	ORPHA:261265
HP:0007369	Atrophy/Degeneration affecting the cerebrum	57003	CCDC47	OMIM:618268
HP:0007369	Atrophy/Degeneration affecting the cerebrum	51095	TRNT1	OMIM:616084
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4567	MT-TL1	ORPHA:324525
HP:0007369	Atrophy/Degeneration affecting the cerebrum	28962	OSTM1	ORPHA:85179
HP:0007369	Atrophy/Degeneration affecting the cerebrum	28962	OSTM1	OMIM:259720
HP:0007369	Atrophy/Degeneration affecting the cerebrum	94005	PIGS	OMIM:618143
HP:0007369	Atrophy/Degeneration affecting the cerebrum	145173	B3GLCT	OMIM:261540
HP:0007369	Atrophy/Degeneration affecting the cerebrum	51091	SEPSECS	OMIM:613811
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2571	GAD1	OMIM:619124
HP:0007369	Atrophy/Degeneration affecting the cerebrum	100147744	RNU7-1	OMIM:619487
HP:0007369	Atrophy/Degeneration affecting the cerebrum	90522	YIF1B	OMIM:619125
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2760	GM2A	ORPHA:309246
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2760	GM2A	OMIM:272750
HP:0007369	Atrophy/Degeneration affecting the cerebrum	440138	ALG11	ORPHA:280071
HP:0007369	Atrophy/Degeneration affecting the cerebrum	51715	RAB23	OMIM:201000
HP:0007369	Atrophy/Degeneration affecting the cerebrum	91875	TTC5	OMIM:619244
HP:0007369	Atrophy/Degeneration affecting the cerebrum	134353	LSM11	OMIM:619486
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1200	TPP1	OMIM:204500
HP:0007369	Atrophy/Degeneration affecting the cerebrum	57038	RARS2	OMIM:611523
HP:0007369	Atrophy/Degeneration affecting the cerebrum	57704	GBA2	ORPHA:320391
HP:0007369	Atrophy/Degeneration affecting the cerebrum	57704	GBA2	OMIM:614409
HP:0007369	Atrophy/Degeneration affecting the cerebrum	57704	GBA2	ORPHA:352641
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6663	SOX10	OMIM:609136
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10084	PQBP1	OMIM:309500
HP:0007369	Atrophy/Degeneration affecting the cerebrum	84231	TRAF7	OMIM:618164
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2733	GLE1	OMIM:611890
HP:0007369	Atrophy/Degeneration affecting the cerebrum	9487	PIGL	OMIM:280000
HP:0007369	Atrophy/Degeneration affecting the cerebrum	727676	SNORD118	ORPHA:542310
HP:0007369	Atrophy/Degeneration affecting the cerebrum	54187	NANS	OMIM:610442
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1719	DHFR	OMIM:613839
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4668	NAGA	OMIM:609242
HP:0007369	Atrophy/Degeneration affecting the cerebrum	54936	ADPRS	OMIM:618170
HP:0007369	Atrophy/Degeneration affecting the cerebrum	64802	NMNAT1	OMIM:619260
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2629	GBA1	OMIM:230900
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10535	RNASEH2A	OMIM:610333
HP:0007369	Atrophy/Degeneration affecting the cerebrum	27445	PCLO	OMIM:608027
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8398	PLA2G6	OMIM:610217
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8398	PLA2G6	OMIM:256600
HP:0007369	Atrophy/Degeneration affecting the cerebrum	374654	KIF7	ORPHA:166024
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4702	NDUFA8	OMIM:619272
HP:0007369	Atrophy/Degeneration affecting the cerebrum	27183	VPS4A	OMIM:619273
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10134	BCAP31	OMIM:300475
HP:0007369	Atrophy/Degeneration affecting the cerebrum	158	ADSL	OMIM:103050
HP:0007369	Atrophy/Degeneration affecting the cerebrum	199857	ALG14	OMIM:619036
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1183	CLCN4	OMIM:300114
HP:0007369	Atrophy/Degeneration affecting the cerebrum	51102	MECR	ORPHA:508093
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5393	EXOSC9	OMIM:618065
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7355	SLC35A2	ORPHA:356961
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7355	SLC35A2	OMIM:300896
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1593	CYP27A1	OMIM:213700
HP:0007369	Atrophy/Degeneration affecting the cerebrum	347734	SLC35B2	OMIM:620269
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10466	COG5	OMIM:613612
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6326	SCN2A	ORPHA:293181
HP:0007369	Atrophy/Degeneration affecting the cerebrum	57468	SLC12A5	ORPHA:293181
HP:0007369	Atrophy/Degeneration affecting the cerebrum	57468	SLC12A5	OMIM:616645
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23236	PLCB1	ORPHA:293181
HP:0007369	Atrophy/Degeneration affecting the cerebrum	57582	KCNT1	ORPHA:293181
HP:0007369	Atrophy/Degeneration affecting the cerebrum	79751	SLC25A22	ORPHA:293181
HP:0007369	Atrophy/Degeneration affecting the cerebrum	79751	SLC25A22	OMIM:609304
HP:0007369	Atrophy/Degeneration affecting the cerebrum	57465	TBC1D24	ORPHA:293181
HP:0007369	Atrophy/Degeneration affecting the cerebrum	57465	TBC1D24	OMIM:220500
HP:0007369	Atrophy/Degeneration affecting the cerebrum	57465	TBC1D24	OMIM:615338
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10667	FARS2	OMIM:614946
HP:0007369	Atrophy/Degeneration affecting the cerebrum	80222	TARS2	OMIM:615918
HP:0007369	Atrophy/Degeneration affecting the cerebrum	64324	NSD1	ORPHA:821
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10297	APC2	ORPHA:821
HP:0007369	Atrophy/Degeneration affecting the cerebrum	162	AP1B1	OMIM:242150
HP:0007369	Atrophy/Degeneration affecting the cerebrum	9442	MED27	OMIM:619286
HP:0007369	Atrophy/Degeneration affecting the cerebrum	80055	PGAP1	OMIM:615802
HP:0007369	Atrophy/Degeneration affecting the cerebrum	54476	RNF216	OMIM:212840
HP:0007369	Atrophy/Degeneration affecting the cerebrum	26580	BSCL2	OMIM:615924
HP:0007369	Atrophy/Degeneration affecting the cerebrum	26580	BSCL2	ORPHA:363400
HP:0007369	Atrophy/Degeneration affecting the cerebrum	26153	KIF26A	OMIM:620156
HP:0007369	Atrophy/Degeneration affecting the cerebrum	9382	COG1	OMIM:611209
HP:0007369	Atrophy/Degeneration affecting the cerebrum	51324	SPG21	OMIM:248900
HP:0007369	Atrophy/Degeneration affecting the cerebrum	64207	IRF2BPL	OMIM:618088
HP:0007369	Atrophy/Degeneration affecting the cerebrum	55037	PTCD3	OMIM:619057
HP:0007369	Atrophy/Degeneration affecting the cerebrum	55157	DARS2	ORPHA:137898
HP:0007369	Atrophy/Degeneration affecting the cerebrum	93627	TBCK	OMIM:616900
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2260	FGFR1	ORPHA:2396
HP:0007369	Atrophy/Degeneration affecting the cerebrum	3845	KRAS	ORPHA:2396
HP:0007369	Atrophy/Degeneration affecting the cerebrum	114034	TOE1	OMIM:614969
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1509	CTSD	OMIM:610127
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7841	MOGS	OMIM:606056
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8772	FADD	OMIM:613759
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8772	FADD	ORPHA:306550
HP:0007369	Atrophy/Degeneration affecting the cerebrum	54675	CRLS1	OMIM:620167
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5095	PCCA	OMIM:606054
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5096	PCCB	OMIM:606054
HP:0007369	Atrophy/Degeneration affecting the cerebrum	57531	HACE1	ORPHA:464282
HP:0007369	Atrophy/Degeneration affecting the cerebrum	57531	HACE1	OMIM:616756
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7466	WFS1	OMIM:222300
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1327	COX4I1	OMIM:619060
HP:0007369	Atrophy/Degeneration affecting the cerebrum	55775	TDP1	OMIM:607250
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10352	WARS2	ORPHA:572798
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10352	WARS2	OMIM:617710
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4338	MOCS2	OMIM:252160
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4598	MVK	OMIM:610377
HP:0007369	Atrophy/Degeneration affecting the cerebrum	54872	PIGG	OMIM:616917
HP:0007369	Atrophy/Degeneration affecting the cerebrum	3265	HRAS	OMIM:218040
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5826	ABCD4	OMIM:614857
HP:0007369	Atrophy/Degeneration affecting the cerebrum	56006	SMG9	OMIM:616920
HP:0007369	Atrophy/Degeneration affecting the cerebrum	285175	UNC80	OMIM:616801
HP:0007369	Atrophy/Degeneration affecting the cerebrum	90624	LYRM7	OMIM:615838
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10056	FARSB	OMIM:613658
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5521	PPP2R2B	ORPHA:98762
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1654	DDX3X	ORPHA:3338
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8481	OFD1	OMIM:311200
HP:0007369	Atrophy/Degeneration affecting the cerebrum	64135	IFIH1	OMIM:615846
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23065	EMC1	ORPHA:480898
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23065	EMC1	OMIM:616875
HP:0007369	Atrophy/Degeneration affecting the cerebrum	55343	SLC35C1	ORPHA:99843
HP:0007369	Atrophy/Degeneration affecting the cerebrum	22880	MORC2	OMIM:619090
HP:0007369	Atrophy/Degeneration affecting the cerebrum	26047	CNTNAP2	OMIM:610042
HP:0007369	Atrophy/Degeneration affecting the cerebrum	55275	VPS53	OMIM:615851
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5824	PEX19	OMIM:614886
HP:0007369	Atrophy/Degeneration affecting the cerebrum	85021	REPS1	OMIM:617916
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6314	ATXN7	ORPHA:94147
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10159	ATP6AP2	OMIM:300423
HP:0007369	Atrophy/Degeneration affecting the cerebrum	57017	COQ9	OMIM:614654
HP:0007369	Atrophy/Degeneration affecting the cerebrum	22907	DHX30	OMIM:617804
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7407	VARS1	OMIM:617802
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10664	CTCF	OMIM:615502
HP:0007369	Atrophy/Degeneration affecting the cerebrum	26123	TCTN3	OMIM:258860
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10075	HUWE1	OMIM:309590
HP:0007369	Atrophy/Degeneration affecting the cerebrum	91949	COG7	OMIM:608779
HP:0007369	Atrophy/Degeneration affecting the cerebrum	79621	RNASEH2B	OMIM:610181
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7167	TPI1	OMIM:615512
HP:0007369	Atrophy/Degeneration affecting the cerebrum	64116	SLC39A8	OMIM:616721
HP:0007369	Atrophy/Degeneration affecting the cerebrum	132	ADK	OMIM:614300
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6513	SLC2A1	OMIM:612126
HP:0007369	Atrophy/Degeneration affecting the cerebrum	53616	ADAM22	OMIM:617933
HP:0007369	Atrophy/Degeneration affecting the cerebrum	546	ATRX	OMIM:301040
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8050	PDHX	ORPHA:255182
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2258	FGF13	OMIM:301058
HP:0007369	Atrophy/Degeneration affecting the cerebrum	9150	CTDP1	OMIM:604168
HP:0007369	Atrophy/Degeneration affecting the cerebrum	9131	AIFM1	ORPHA:83629
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5859	QARS1	OMIM:615760
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5160	PDHA1	OMIM:312170
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5160	PDHA1	ORPHA:79243
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1806	DPYD	OMIM:274270
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1806	DPYD	ORPHA:1675
HP:0007369	Atrophy/Degeneration affecting the cerebrum	51010	EXOSC3	OMIM:614678
HP:0007369	Atrophy/Degeneration affecting the cerebrum	54822	TRPM7	OMIM:105500
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2891	GRIA2	OMIM:618917
HP:0007369	Atrophy/Degeneration affecting the cerebrum	55906	ZC4H2	OMIM:314580
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23732	FRRS1L	OMIM:616981
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6709	SPTAN1	OMIM:613477
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2058	EPRS1	OMIM:617951
HP:0007369	Atrophy/Degeneration affecting the cerebrum	80746	TSEN2	OMIM:612389
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2917	GRM7	OMIM:618922
HP:0007369	Atrophy/Degeneration affecting the cerebrum	29940	DSE	OMIM:615539
HP:0007369	Atrophy/Degeneration affecting the cerebrum	9361	LONP1	ORPHA:79243
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5422	POLA1	OMIM:301030
HP:0007369	Atrophy/Degeneration affecting the cerebrum	57511	COG6	OMIM:614576
HP:0007369	Atrophy/Degeneration affecting the cerebrum	175	AGA	OMIM:208400
HP:0007369	Atrophy/Degeneration affecting the cerebrum	25839	COG4	OMIM:613489
HP:0007369	Atrophy/Degeneration affecting the cerebrum	128989	TANGO2	OMIM:616878
HP:0007369	Atrophy/Degeneration affecting the cerebrum	55644	OSGEP	OMIM:617729
HP:0007369	Atrophy/Degeneration affecting the cerebrum	57572	DOCK6	OMIM:614219
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2313	FLI1	ORPHA:2308
HP:0007369	Atrophy/Degeneration affecting the cerebrum	9997	SCO2	OMIM:604377
HP:0007369	Atrophy/Degeneration affecting the cerebrum	112858	TP53RK	OMIM:617730
HP:0007369	Atrophy/Degeneration affecting the cerebrum	11019	LIAS	OMIM:614462
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8270	LAGE3	OMIM:301006
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6812	STXBP1	OMIM:612164
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2517	FUCA1	OMIM:230000
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4337	MOCS1	OMIM:252150
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23040	MYT1L	OMIM:616521
HP:0007369	Atrophy/Degeneration affecting the cerebrum	3704	ITPA	OMIM:616647
HP:0007369	Atrophy/Degeneration affecting the cerebrum	25914	RTTN	ORPHA:468631
HP:0007369	Atrophy/Degeneration affecting the cerebrum	203228	C9orf72	OMIM:105550
HP:0007369	Atrophy/Degeneration affecting the cerebrum	80781	COL18A1	OMIM:267750
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6509	SLC1A4	OMIM:616657
HP:0007369	Atrophy/Degeneration affecting the cerebrum	617	BCS1L	OMIM:124000
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4094	MAF	OMIM:601088
HP:0007369	Atrophy/Degeneration affecting the cerebrum	95	ACY1	OMIM:609924
HP:0007369	Atrophy/Degeneration affecting the cerebrum	54802	TRIT1	OMIM:617873
HP:0007369	Atrophy/Degeneration affecting the cerebrum	29920	PYCR2	OMIM:616420
HP:0007369	Atrophy/Degeneration affecting the cerebrum	26503	SLC17A5	OMIM:269920
HP:0007369	Atrophy/Degeneration affecting the cerebrum	9197	SLC33A1	OMIM:614482
HP:0007369	Atrophy/Degeneration affecting the cerebrum	200205	IBA57	OMIM:615330
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10274	STAG1	OMIM:617635
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5538	PPT1	OMIM:256730
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2806	GOT2	OMIM:618721
HP:0007369	Atrophy/Degeneration affecting the cerebrum	25974	MMACHC	ORPHA:79282
HP:0007369	Atrophy/Degeneration affecting the cerebrum	3778	KCNMA1	OMIM:618729
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2639	GCDH	OMIM:231670
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4204	MECP2	ORPHA:209370
HP:0007369	Atrophy/Degeneration affecting the cerebrum	51075	TMX2	OMIM:618730
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8884	SLC5A6	OMIM:618973
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7305	TYROBP	OMIM:221770
HP:0007369	Atrophy/Degeneration affecting the cerebrum	55331	ACER3	OMIM:617762
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2902	GRIN1	OMIM:614254
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8803	SUCLA2	OMIM:612073
HP:0007369	Atrophy/Degeneration affecting the cerebrum	22978	NT5C2	OMIM:613162
HP:0007369	Atrophy/Degeneration affecting the cerebrum	92935	MARS2	OMIM:616430
HP:0007369	Atrophy/Degeneration affecting the cerebrum	79587	CARS2	OMIM:616672
HP:0007369	Atrophy/Degeneration affecting the cerebrum	22827	PUF60	OMIM:615583
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7543	ZFX	OMIM:301118
HP:0007369	Atrophy/Degeneration affecting the cerebrum	85378	TUBGCP6	OMIM:251270
HP:0007369	Atrophy/Degeneration affecting the cerebrum	547	KIF1A	OMIM:614255
HP:0007369	Atrophy/Degeneration affecting the cerebrum	55753	OGDHL	OMIM:619701
HP:0007369	Atrophy/Degeneration affecting the cerebrum	22868	FASTKD2	OMIM:618855
HP:0007369	Atrophy/Degeneration affecting the cerebrum	25792	CIZ1	ORPHA:420492
HP:0007369	Atrophy/Degeneration affecting the cerebrum	400916	CHCHD10	OMIM:615911
HP:0007369	Atrophy/Degeneration affecting the cerebrum	673	BRAF	OMIM:115150
HP:0007369	Atrophy/Degeneration affecting the cerebrum	673	BRAF	ORPHA:1340
HP:0007369	Atrophy/Degeneration affecting the cerebrum	54820	NDE1	ORPHA:2177
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7360	UGP2	OMIM:618744
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5457	POU4F1	ORPHA:314647
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23261	CAMTA1	ORPHA:314647
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23261	CAMTA1	OMIM:614756
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8496	PPFIBP1	OMIM:620024
HP:0007369	Atrophy/Degeneration affecting the cerebrum	51816	ADA2	ORPHA:820
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6687	SPG7	ORPHA:99013
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6687	SPG7	OMIM:607259
HP:0007369	Atrophy/Degeneration affecting the cerebrum	54209	TREM2	OMIM:618193
HP:0007369	Atrophy/Degeneration affecting the cerebrum	54209	TREM2	ORPHA:1020
HP:0007369	Atrophy/Degeneration affecting the cerebrum	54209	TREM2	ORPHA:2770
HP:0007369	Atrophy/Degeneration affecting the cerebrum	51112	TRAPPC12	ORPHA:500144
HP:0007369	Atrophy/Degeneration affecting the cerebrum	51112	TRAPPC12	OMIM:617669
HP:0007369	Atrophy/Degeneration affecting the cerebrum	54968	TMEM70	ORPHA:1194
HP:0007369	Atrophy/Degeneration affecting the cerebrum	3020	H3-3A	OMIM:619720
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8722	CTSF	OMIM:615362
HP:0007369	Atrophy/Degeneration affecting the cerebrum	387787	LIPT2	OMIM:617668
HP:0007369	Atrophy/Degeneration affecting the cerebrum	84520	GON7	OMIM:619603
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23431	AP4E1	OMIM:613744
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23431	AP4E1	ORPHA:280763
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10978	CLP1	OMIM:615803
HP:0007369	Atrophy/Degeneration affecting the cerebrum	79158	GNPTAB	OMIM:252500
HP:0007369	Atrophy/Degeneration affecting the cerebrum	271	AMPD2	OMIM:615809
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5189	PEX1	OMIM:214100
HP:0007369	Atrophy/Degeneration affecting the cerebrum	55650	PIGV	OMIM:239300
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2192	FBLN1	ORPHA:404451
HP:0007369	Atrophy/Degeneration affecting the cerebrum	348	APOE	OMIM:607822
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5663	PSEN1	OMIM:607822
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5663	PSEN1	ORPHA:1020
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4509	MT-ATP8	ORPHA:254913
HP:0007369	Atrophy/Degeneration affecting the cerebrum	514	ATP5F1E	ORPHA:254913
HP:0007369	Atrophy/Degeneration affecting the cerebrum	513	ATP5F1D	ORPHA:254913
HP:0007369	Atrophy/Degeneration affecting the cerebrum	498	ATP5F1A	ORPHA:254913
HP:0007369	Atrophy/Degeneration affecting the cerebrum	84833	ATP5MK	ORPHA:254913
HP:0007369	Atrophy/Degeneration affecting the cerebrum	91647	ATPAF2	ORPHA:254913
HP:0007369	Atrophy/Degeneration affecting the cerebrum	9326	ZNHIT3	ORPHA:2836
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6496	SIX3	OMIM:269160
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2018	EMX2	OMIM:269160
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5191	PEX7	OMIM:215100
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2332	FMR1	ORPHA:93256
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2332	FMR1	ORPHA:908
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23400	ATP13A2	ORPHA:513436
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23400	ATP13A2	ORPHA:306674
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23400	ATP13A2	OMIM:617225
HP:0007369	Atrophy/Degeneration affecting the cerebrum	652	BMP4	OMIM:607932
HP:0007369	Atrophy/Degeneration affecting the cerebrum	57231	SNX14	OMIM:616354
HP:0007369	Atrophy/Degeneration affecting the cerebrum	132158	GLYCTK	OMIM:220120
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10347	ABCA7	OMIM:608907
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10347	ABCA7	ORPHA:1020
HP:0007369	Atrophy/Degeneration affecting the cerebrum	246243	RNASEH1	OMIM:616479
HP:0007369	Atrophy/Degeneration affecting the cerebrum	80208	SPG11	ORPHA:2822
HP:0007369	Atrophy/Degeneration affecting the cerebrum	80208	SPG11	OMIM:604360
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23230	VPS13A	ORPHA:2388
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4582	MUC1	OMIM:174000
HP:0007369	Atrophy/Degeneration affecting the cerebrum	57338	JPH3	ORPHA:98934
HP:0007369	Atrophy/Degeneration affecting the cerebrum	57338	JPH3	OMIM:606438
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23265	EXOC7	OMIM:619072
HP:0007369	Atrophy/Degeneration affecting the cerebrum	699	BUB1	OMIM:620183
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1798	DPAGT1	ORPHA:86309
HP:0007369	Atrophy/Degeneration affecting the cerebrum	55699	IARS2	OMIM:616007
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6804	STX1A	ORPHA:904
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7461	CLIP2	ORPHA:904
HP:0007369	Atrophy/Degeneration affecting the cerebrum	84277	DNAJC30	ORPHA:904
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8468	FKBP6	ORPHA:904
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5982	RFC2	ORPHA:904
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2969	GTF2I	ORPHA:904
HP:0007369	Atrophy/Degeneration affecting the cerebrum	3984	LIMK1	ORPHA:904
HP:0007369	Atrophy/Degeneration affecting the cerebrum	9569	GTF2IRD1	ORPHA:904
HP:0007369	Atrophy/Degeneration affecting the cerebrum	155382	VPS37D	ORPHA:904
HP:0007369	Atrophy/Degeneration affecting the cerebrum	155368	METTL27	ORPHA:904
HP:0007369	Atrophy/Degeneration affecting the cerebrum	114049	BUD23	ORPHA:904
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7458	EIF4H	ORPHA:904
HP:0007369	Atrophy/Degeneration affecting the cerebrum	84163	GTF2IRD2	ORPHA:904
HP:0007369	Atrophy/Degeneration affecting the cerebrum	26608	TBL2	ORPHA:904
HP:0007369	Atrophy/Degeneration affecting the cerebrum	653361	NCF1	ORPHA:904
HP:0007369	Atrophy/Degeneration affecting the cerebrum	135886	TMEM270	ORPHA:904
HP:0007369	Atrophy/Degeneration affecting the cerebrum	9031	BAZ1B	ORPHA:904
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2006	ELN	ORPHA:904
HP:0007369	Atrophy/Degeneration affecting the cerebrum	11340	EXOSC8	ORPHA:2254
HP:0007369	Atrophy/Degeneration affecting the cerebrum	11340	EXOSC8	OMIM:616081
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23287	AGTPBP1	ORPHA:2254
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7443	VRK1	ORPHA:2254
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7443	VRK1	OMIM:607596
HP:0007369	Atrophy/Degeneration affecting the cerebrum	91137	SLC25A46	ORPHA:2254
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5590	PRKCZ	ORPHA:1606
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2563	GABRD	ORPHA:1606
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23013	SPEN	ORPHA:1606
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8510	MMP23B	ORPHA:1606
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7798	LUZP1	ORPHA:1606
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6497	SKI	ORPHA:1606
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10630	PDPN	ORPHA:1606
HP:0007369	Atrophy/Degeneration affecting the cerebrum	3339	HSPG2	ORPHA:1606
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10277	UBE4B	ORPHA:1606
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8514	KCNAB2	ORPHA:1606
HP:0007369	Atrophy/Degeneration affecting the cerebrum	473	RERE	ORPHA:1606
HP:0007369	Atrophy/Degeneration affecting the cerebrum	63976	PRDM16	ORPHA:1606
HP:0007369	Atrophy/Degeneration affecting the cerebrum	54897	CASZ1	ORPHA:1606
HP:0007369	Atrophy/Degeneration affecting the cerebrum	493856	CISD2	ORPHA:3463
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7337	UBE3A	OMIM:105830
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6638	SNRPN	OMIM:105830
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6638	SNRPN	ORPHA:177907
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1859	DYRK1A	ORPHA:464311
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1859	DYRK1A	ORPHA:268261
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1859	DYRK1A	OMIM:614104
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2896	GRN	OMIM:607485
HP:0007369	Atrophy/Degeneration affecting the cerebrum	11128	POLR3A	ORPHA:447896
HP:0007369	Atrophy/Degeneration affecting the cerebrum	11128	POLR3A	OMIM:607694
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8517	IKBKG	ORPHA:464
HP:0007369	Atrophy/Degeneration affecting the cerebrum	51633	OTUD6B	ORPHA:505237
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5621	PRNP	ORPHA:157941
HP:0007369	Atrophy/Degeneration affecting the cerebrum	56098	PCDHGC4	OMIM:619880
HP:0007369	Atrophy/Degeneration affecting the cerebrum	54499	TMCO1	ORPHA:1394
HP:0007369	Atrophy/Degeneration affecting the cerebrum	9562	MINPP1	OMIM:619527
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6311	ATXN2	ORPHA:98756
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8573	CASK	ORPHA:163937
HP:0007369	Atrophy/Degeneration affecting the cerebrum	54941	RNF125	OMIM:616260
HP:0007369	Atrophy/Degeneration affecting the cerebrum	25782	RAB3GAP2	ORPHA:1387
HP:0007369	Atrophy/Degeneration affecting the cerebrum	25782	RAB3GAP2	ORPHA:401830
HP:0007369	Atrophy/Degeneration affecting the cerebrum	25782	RAB3GAP2	ORPHA:2510
HP:0007369	Atrophy/Degeneration affecting the cerebrum	25836	NIPBL	OMIM:122470
HP:0007369	Atrophy/Degeneration affecting the cerebrum	25836	NIPBL	ORPHA:199
HP:0007369	Atrophy/Degeneration affecting the cerebrum	283989	TSEN54	OMIM:277470
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5664	PSEN2	ORPHA:1020
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10452	TOMM40	ORPHA:1020
HP:0007369	Atrophy/Degeneration affecting the cerebrum	351	APP	ORPHA:1020
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6653	SORL1	ORPHA:1020
HP:0007369	Atrophy/Degeneration affecting the cerebrum	404672	GTF2H5	ORPHA:33364
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2068	ERCC2	ORPHA:33364
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2068	ERCC2	ORPHA:910
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2068	ERCC2	ORPHA:1466
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7737	RNF113A	ORPHA:33364
HP:0007369	Atrophy/Degeneration affecting the cerebrum	136647	MPLKIP	ORPHA:33364
HP:0007369	Atrophy/Degeneration affecting the cerebrum	136647	MPLKIP	OMIM:234050
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6897	TARS1	ORPHA:33364
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2071	ERCC3	ORPHA:33364
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2071	ERCC3	ORPHA:910
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2961	GTF2E2	ORPHA:33364
HP:0007369	Atrophy/Degeneration affecting the cerebrum	51750	RTEL1	ORPHA:3322
HP:0007369	Atrophy/Degeneration affecting the cerebrum	65057	ACD	ORPHA:3322
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5073	PARN	ORPHA:3322
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7015	TERT	ORPHA:3322
HP:0007369	Atrophy/Degeneration affecting the cerebrum	26277	TINF2	ORPHA:3322
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1736	DKC1	ORPHA:3322
HP:0007369	Atrophy/Degeneration affecting the cerebrum	79053	ALG8	ORPHA:79325
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2776	GNAQ	ORPHA:3205
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2776	GNAQ	OMIM:185300
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8295	TRRAP	OMIM:618454
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2583	B4GALNT1	OMIM:609195
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2583	B4GALNT1	ORPHA:101006
HP:0007369	Atrophy/Degeneration affecting the cerebrum	11232	POLG2	OMIM:619425
HP:0007369	Atrophy/Degeneration affecting the cerebrum	57724	EPG5	ORPHA:1493
HP:0007369	Atrophy/Degeneration affecting the cerebrum	81603	TRIM8	OMIM:619428
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7507	XPA	ORPHA:910
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7508	XPC	ORPHA:910
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1643	DDB2	ORPHA:910
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2072	ERCC4	ORPHA:910
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2073	ERCC5	ORPHA:910
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2073	ERCC5	ORPHA:1466
HP:0007369	Atrophy/Degeneration affecting the cerebrum	55703	POLR3B	OMIM:607694
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4558	MT-TF	ORPHA:550
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4572	MT-TQ	ORPHA:550
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4512	MT-CO1	ORPHA:550
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4513	MT-CO2	ORPHA:550
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4514	MT-CO3	ORPHA:550
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4578	MT-TW	ORPHA:550
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4540	MT-ND5	ORPHA:550
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4541	MT-ND6	ORPHA:550
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4535	MT-ND1	ORPHA:550
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4538	MT-ND4	ORPHA:550
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4574	MT-TS1	ORPHA:550
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4575	MT-TS2	ORPHA:550
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4564	MT-TH	ORPHA:550
HP:0007369	Atrophy/Degeneration affecting the cerebrum	27238	GPKOW	ORPHA:2570
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8925	HERC1	OMIM:617011
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8925	HERC1	ORPHA:457359
HP:0007369	Atrophy/Degeneration affecting the cerebrum	54832	VPS13C	OMIM:616840
HP:0007369	Atrophy/Degeneration affecting the cerebrum	55746	NUP133	OMIM:618349
HP:0007369	Atrophy/Degeneration affecting the cerebrum	57679	ALS2	OMIM:606353
HP:0007369	Atrophy/Degeneration affecting the cerebrum	27249	MMADHC	OMIM:277410
HP:0007369	Atrophy/Degeneration affecting the cerebrum	55630	SLC39A4	ORPHA:37
HP:0007369	Atrophy/Degeneration affecting the cerebrum	116461	TSEN15	OMIM:617026
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8085	KMT2D	ORPHA:2322
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7403	KDM6A	ORPHA:2322
HP:0007369	Atrophy/Degeneration affecting the cerebrum	998	CDC42	OMIM:616737
HP:0007369	Atrophy/Degeneration affecting the cerebrum	50	ACO2	OMIM:614559
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10166	SLC25A15	ORPHA:415
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10166	SLC25A15	OMIM:238970
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6904	TBCD	ORPHA:496641
HP:0007369	Atrophy/Degeneration affecting the cerebrum	29925	GMPPB	ORPHA:370968
HP:0007369	Atrophy/Degeneration affecting the cerebrum	79147	FKRP	ORPHA:370968
HP:0007369	Atrophy/Degeneration affecting the cerebrum	29954	POMT2	ORPHA:370968
HP:0007369	Atrophy/Degeneration affecting the cerebrum	29954	POMT2	OMIM:613156
HP:0007369	Atrophy/Degeneration affecting the cerebrum	9215	LARGE1	ORPHA:370968
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10585	POMT1	ORPHA:370968
HP:0007369	Atrophy/Degeneration affecting the cerebrum	56915	EXOSC5	OMIM:619576
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23221	RHOBTB2	OMIM:618004
HP:0007369	Atrophy/Degeneration affecting the cerebrum	166378	AFG2A	ORPHA:457351
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2067	ERCC1	ORPHA:1466
HP:0007369	Atrophy/Degeneration affecting the cerebrum	54834	GDAP2	OMIM:618369
HP:0007369	Atrophy/Degeneration affecting the cerebrum	400569	MED11	OMIM:620327
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23317	DNAJC13	ORPHA:411602
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1981	EIF4G1	ORPHA:411602
HP:0007369	Atrophy/Degeneration affecting the cerebrum	55737	VPS35	ORPHA:411602
HP:0007369	Atrophy/Degeneration affecting the cerebrum	120892	LRRK2	ORPHA:411602
HP:0007369	Atrophy/Degeneration affecting the cerebrum	26058	GIGYF2	ORPHA:411602
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6622	SNCA	ORPHA:411602
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5604	MAP2K1	ORPHA:1340
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5605	MAP2K2	ORPHA:1340
HP:0007369	Atrophy/Degeneration affecting the cerebrum	51608	GET4	OMIM:620200
HP:0007369	Atrophy/Degeneration affecting the cerebrum	100506658	OCLN	ORPHA:1229
HP:0007369	Atrophy/Degeneration affecting the cerebrum	9758	FRMPD4	OMIM:300983
HP:0007369	Atrophy/Degeneration affecting the cerebrum	83696	TRAPPC9	ORPHA:352530
HP:0007369	Atrophy/Degeneration affecting the cerebrum	128637	TBC1D20	OMIM:615663
HP:0007369	Atrophy/Degeneration affecting the cerebrum	128637	TBC1D20	ORPHA:2510
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23476	BRD4	ORPHA:199
HP:0007369	Atrophy/Degeneration affecting the cerebrum	9126	SMC3	ORPHA:199
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8243	SMC1A	ORPHA:199
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6878	TAF6	ORPHA:199
HP:0007369	Atrophy/Degeneration affecting the cerebrum	55869	HDAC8	ORPHA:199
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5885	RAD21	ORPHA:199
HP:0007369	Atrophy/Degeneration affecting the cerebrum	9791	PTDSS1	OMIM:151050
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6197	RPS6KA3	ORPHA:192
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10815	CPLX1	OMIM:617976
HP:0007369	Atrophy/Degeneration affecting the cerebrum	22931	RAB18	OMIM:614222
HP:0007369	Atrophy/Degeneration affecting the cerebrum	22931	RAB18	ORPHA:2510
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10283	CWC27	OMIM:250410
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10283	CWC27	ORPHA:166035
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8905	AP1S2	ORPHA:1568
HP:0007369	Atrophy/Degeneration affecting the cerebrum	60558	GUF1	OMIM:617065
HP:0007369	Atrophy/Degeneration affecting the cerebrum	122553	TRAPPC6B	OMIM:617862
HP:0007369	Atrophy/Degeneration affecting the cerebrum	57688	ZSWIM6	OMIM:617865
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2893	GRIA4	OMIM:617864
HP:0007369	Atrophy/Degeneration affecting the cerebrum	55164	SHQ1	OMIM:619922
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6785	ELOVL4	OMIM:133190
HP:0007369	Atrophy/Degeneration affecting the cerebrum	3090	HIC1	ORPHA:531
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5048	PAFAH1B1	ORPHA:531
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7531	YWHAE	ORPHA:531
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10717	AP4B1	ORPHA:280763
HP:0007369	Atrophy/Degeneration affecting the cerebrum	9179	AP4M1	ORPHA:280763
HP:0007369	Atrophy/Degeneration affecting the cerebrum	11154	AP4S1	ORPHA:280763
HP:0007369	Atrophy/Degeneration affecting the cerebrum	25978	CHMP2B	OMIM:600795
HP:0007369	Atrophy/Degeneration affecting the cerebrum	340533	NEXMIF	ORPHA:85277
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10479	SLC9A6	ORPHA:85278
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1203	CLN5	OMIM:256731
HP:0007369	Atrophy/Degeneration affecting the cerebrum	27229	TUBGCP4	ORPHA:2518
HP:0007369	Atrophy/Degeneration affecting the cerebrum	55005	RMND1	OMIM:614922
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4693	NDP	ORPHA:649
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2801	GOLGA2	OMIM:620240
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23299	BICD2	OMIM:618291
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23404	EXOSC2	OMIM:617763
HP:0007369	Atrophy/Degeneration affecting the cerebrum	221692	PHACTR1	OMIM:618298
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4858	NOVA2	OMIM:618859
HP:0007369	Atrophy/Degeneration affecting the cerebrum	29110	TBK1	OMIM:616439
HP:0007369	Atrophy/Degeneration affecting the cerebrum	9373	PLAA	OMIM:617527
HP:0007369	Atrophy/Degeneration affecting the cerebrum	170302	ARX	ORPHA:2508
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8878	SQSTM1	OMIM:616437
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5052	PRDX1	OMIM:277400
HP:0007369	Atrophy/Degeneration affecting the cerebrum	267010	RNU12	ORPHA:512260
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1678	TIMM8A	ORPHA:52368
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2512	FTL	ORPHA:157846
HP:0007369	Atrophy/Degeneration affecting the cerebrum	440	ASNS	OMIM:615574
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4750	NEK1	OMIM:617892
HP:0007369	Atrophy/Degeneration affecting the cerebrum	93986	FOXP2	ORPHA:209908
HP:0007369	Atrophy/Degeneration affecting the cerebrum	79133	NDUFAF5	OMIM:618238
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4983	OPHN1	ORPHA:137831
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5654	HTRA1	ORPHA:199354
HP:0007369	Atrophy/Degeneration affecting the cerebrum	3735	KARS1	ORPHA:3240
HP:0007369	Atrophy/Degeneration affecting the cerebrum	27235	COQ2	OMIM:607426
HP:0007369	Atrophy/Degeneration affecting the cerebrum	64601	VPS16	OMIM:619291
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7384	UQCRC1	OMIM:619279
HP:0007369	Atrophy/Degeneration affecting the cerebrum	22796	COG2	OMIM:617395
HP:0007369	Atrophy/Degeneration affecting the cerebrum	22796	COG2	ORPHA:435934
HP:0007369	Atrophy/Degeneration affecting the cerebrum	686	BTD	OMIM:253260
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2581	GALC	ORPHA:206436
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2581	GALC	OMIM:245200
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5660	PSAP	ORPHA:206436
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1717	DHCR7	OMIM:270400
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23203	PMPCA	ORPHA:1170
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2232	FDXR	ORPHA:543470
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2903	GRIN2A	ORPHA:289266
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5575	PRKAR1B	ORPHA:412066
HP:0007369	Atrophy/Degeneration affecting the cerebrum	51473	DCDC2	ORPHA:84081
HP:0007369	Atrophy/Degeneration affecting the cerebrum	91147	TMEM67	ORPHA:84081
HP:0007369	Atrophy/Degeneration affecting the cerebrum	9440	MED17	OMIM:613668
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6792	CDKL5	ORPHA:1934
HP:0007369	Atrophy/Degeneration affecting the cerebrum	3736	KCNA1	ORPHA:1934
HP:0007369	Atrophy/Degeneration affecting the cerebrum	9091	PIGQ	ORPHA:1934
HP:0007369	Atrophy/Degeneration affecting the cerebrum	150094	SIK1	ORPHA:1934
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23312	DMXL2	ORPHA:1934
HP:0007369	Atrophy/Degeneration affecting the cerebrum	11284	PNKP	ORPHA:1934
HP:0007369	Atrophy/Degeneration affecting the cerebrum	51227	PIGP	ORPHA:1934
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6324	SCN1B	ORPHA:1934
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6908	TBP	OMIM:607136
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7074	TIAM1	OMIM:619908
HP:0007369	Atrophy/Degeneration affecting the cerebrum	79989	IFT56	OMIM:619534
HP:0007369	Atrophy/Degeneration affecting the cerebrum	54664	TMEM106B	ORPHA:275864
HP:0007369	Atrophy/Degeneration affecting the cerebrum	54664	TMEM106B	ORPHA:100070
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7415	VCP	ORPHA:275864
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7415	VCP	ORPHA:100070
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4208	MEF2C	ORPHA:228384
HP:0007369	Atrophy/Degeneration affecting the cerebrum	2892	GRIA3	OMIM:300699
HP:0007369	Atrophy/Degeneration affecting the cerebrum	55681	SCYL2	OMIM:618766
HP:0007369	Atrophy/Degeneration affecting the cerebrum	3097	HIVEP2	OMIM:616977
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1528	CYB5A	ORPHA:621
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1727	CYB5R3	ORPHA:621
HP:0007369	Atrophy/Degeneration affecting the cerebrum	6335	SCN9A	ORPHA:36387
HP:0007369	Atrophy/Degeneration affecting the cerebrum	112755	STX1B	ORPHA:36387
HP:0007369	Atrophy/Degeneration affecting the cerebrum	112476	PRRT2	ORPHA:36387
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5147	PDE6D	OMIM:615665
HP:0007369	Atrophy/Degeneration affecting the cerebrum	104	ADARB1	OMIM:618862
HP:0007369	Atrophy/Degeneration affecting the cerebrum	80025	PANK2	OMIM:234200
HP:0007369	Atrophy/Degeneration affecting the cerebrum	3708	ITPR1	OMIM:117360
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4001	LMNB1	ORPHA:99027
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4976	OPA1	ORPHA:98673
HP:0007369	Atrophy/Degeneration affecting the cerebrum	1436	CSF1R	OMIM:221820
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4099	MAG	OMIM:616680
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5832	ALDH18A1	OMIM:616586
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5832	ALDH18A1	ORPHA:447753
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5832	ALDH18A1	OMIM:601162
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5832	ALDH18A1	ORPHA:447760
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4125	MAN2B1	OMIM:248500
HP:0007369	Atrophy/Degeneration affecting the cerebrum	777	CACNA1E	OMIM:618285
HP:0007369	Atrophy/Degeneration affecting the cerebrum	84631	SLITRK2	OMIM:301107
HP:0007369	Atrophy/Degeneration affecting the cerebrum	51728	POLR3K	OMIM:619310
HP:0007369	Atrophy/Degeneration affecting the cerebrum	27247	NFU1	OMIM:620938
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10273	STUB1	ORPHA:412057
HP:0007369	Atrophy/Degeneration affecting the cerebrum	9255	AIMP1	OMIM:260600
HP:0007369	Atrophy/Degeneration affecting the cerebrum	3295	HSD17B4	OMIM:261515
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4191	MDH2	OMIM:617339
HP:0007369	Atrophy/Degeneration affecting the cerebrum	27072	VPS41	OMIM:619389
HP:0007369	Atrophy/Degeneration affecting the cerebrum	79152	FA2H	ORPHA:171629
HP:0007369	Atrophy/Degeneration affecting the cerebrum	51761	ATP8A2	OMIM:615268
HP:0007369	Atrophy/Degeneration affecting the cerebrum	9409	PEX16	OMIM:614877
HP:0007369	Atrophy/Degeneration affecting the cerebrum	8890	EIF2B4	OMIM:620314
HP:0007369	Atrophy/Degeneration affecting the cerebrum	79944	L2HGDH	OMIM:236792
HP:0007369	Atrophy/Degeneration affecting the cerebrum	90952	ESAM	OMIM:620371
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4508	MT-ATP6	ORPHA:225154
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23636	NUP62	ORPHA:225154
HP:0007369	Atrophy/Degeneration affecting the cerebrum	53371	NUP54	ORPHA:225154
HP:0007369	Atrophy/Degeneration affecting the cerebrum	103	ADAR	ORPHA:225154
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4692	NDN	ORPHA:177904
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4692	NDN	ORPHA:177901
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4692	NDN	ORPHA:98754
HP:0007369	Atrophy/Degeneration affecting the cerebrum	54551	MAGEL2	ORPHA:177904
HP:0007369	Atrophy/Degeneration affecting the cerebrum	54551	MAGEL2	ORPHA:177901
HP:0007369	Atrophy/Degeneration affecting the cerebrum	54551	MAGEL2	ORPHA:98754
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4948	OCA2	ORPHA:177904
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4948	OCA2	ORPHA:177901
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4948	OCA2	ORPHA:98754
HP:0007369	Atrophy/Degeneration affecting the cerebrum	26278	SACS	ORPHA:98
HP:0007369	Atrophy/Degeneration affecting the cerebrum	5927	KDM5A	OMIM:620820
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10430	TMEM147	OMIM:620075
HP:0007369	Atrophy/Degeneration affecting the cerebrum	85440	DOCK7	ORPHA:411986
HP:0007369	Atrophy/Degeneration affecting the cerebrum	64072	CDH23	ORPHA:231169
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10083	USH1C	ORPHA:231169
HP:0007369	Atrophy/Degeneration affecting the cerebrum	124590	USH1G	ORPHA:231169
HP:0007369	Atrophy/Degeneration affecting the cerebrum	83715	ESPN	ORPHA:231169
HP:0007369	Atrophy/Degeneration affecting the cerebrum	10518	CIB2	ORPHA:231169
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4647	MYO7A	ORPHA:231169
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4647	MYO7A	ORPHA:231178
HP:0007369	Atrophy/Degeneration affecting the cerebrum	65217	PCDH15	ORPHA:231169
HP:0007369	Atrophy/Degeneration affecting the cerebrum	4644	MYO5A	ORPHA:33445
HP:0007369	Atrophy/Degeneration affecting the cerebrum	7399	USH2A	ORPHA:231178
HP:0007369	Atrophy/Degeneration affecting the cerebrum	79955	PDZD7	ORPHA:231178
HP:0007369	Atrophy/Degeneration affecting the cerebrum	25861	WHRN	ORPHA:231178
HP:0007369	Atrophy/Degeneration affecting the cerebrum	84059	ADGRV1	ORPHA:231178
HP:0007369	Atrophy/Degeneration affecting the cerebrum	51360	MBTPS2	ORPHA:2273
HP:0007369	Atrophy/Degeneration affecting the cerebrum	23729	SHPK	ORPHA:440713
HP:0007369	Atrophy/Degeneration affecting the cerebrum	79813	EHMT1	ORPHA:96147
HP:0007369	Atrophy/Degeneration affecting the cerebrum	71	ACTG1	ORPHA:2995
HP:0007369	Atrophy/Degeneration affecting the cerebrum	60	ACTB	ORPHA:2995
HP:0007369	Atrophy/Degeneration affecting the cerebrum	100151683	RNU4ATAC	ORPHA:353298
HP:0007369	Atrophy/Degeneration affecting the cerebrum	57094	CPA6	OMIM:614418
HP:0007369	Atrophy/Degeneration affecting the cerebrum	29998	BICRA	OMIM:619325
HP:0033493	Mesangial matrix expansion	81494	CFHR5	OMIM:614809
HP:0030200	Fatiguable weakness of proximal limb muscles	51305	KCNK9	ORPHA:166108
HP:0030200	Fatiguable weakness of proximal limb muscles	10342	TFG	ORPHA:90117
HP:0030200	Fatiguable weakness of proximal limb muscles	2318	FLNC	ORPHA:63273
HP:0030200	Fatiguable weakness of proximal limb muscles	84196	USP48	ORPHA:96253
HP:0030200	Fatiguable weakness of proximal limb muscles	7157	TP53	ORPHA:96253
HP:0030200	Fatiguable weakness of proximal limb muscles	9101	USP8	ORPHA:96253
HP:0030200	Fatiguable weakness of proximal limb muscles	64072	CDH23	ORPHA:96253
HP:0030200	Fatiguable weakness of proximal limb muscles	2908	NR3C1	ORPHA:96253
HP:0030200	Fatiguable weakness of proximal limb muscles	673	BRAF	ORPHA:96253
HP:0030200	Fatiguable weakness of proximal limb muscles	546	ATRX	ORPHA:96253
HP:0030200	Fatiguable weakness of proximal limb muscles	58	ACTA1	ORPHA:171436
HP:0030200	Fatiguable weakness of proximal limb muscles	7169	TPM2	ORPHA:171436
HP:0030200	Fatiguable weakness of proximal limb muscles	7169	TPM2	ORPHA:171881
HP:0030200	Fatiguable weakness of proximal limb muscles	4703	NEB	ORPHA:171436
HP:0030200	Fatiguable weakness of proximal limb muscles	10324	KLHL41	ORPHA:171436
HP:0030200	Fatiguable weakness of proximal limb muscles	56203	LMOD3	ORPHA:171436
HP:0030200	Fatiguable weakness of proximal limb muscles	1073	CFL2	ORPHA:171436
HP:0030200	Fatiguable weakness of proximal limb muscles	844	CASQ1	ORPHA:2593
HP:0030200	Fatiguable weakness of proximal limb muscles	84876	ORAI1	ORPHA:2593
HP:0030200	Fatiguable weakness of proximal limb muscles	6786	STIM1	ORPHA:2593
HP:0030200	Fatiguable weakness of proximal limb muscles	23345	SYNE1	ORPHA:319332
HP:0030200	Fatiguable weakness of proximal limb muscles	84665	MYPN	ORPHA:171881
HP:0030200	Fatiguable weakness of proximal limb muscles	7170	TPM3	ORPHA:171881
HP:0030208	Anti-neuromuscular Junction acetylcholine receptor antibody positivity	5339	PLEC	ORPHA:254361
HP:0030208	Anti-neuromuscular Junction acetylcholine receptor antibody positivity	1134	CHRNA1	OMIM:601462
HP:0030208	Anti-neuromuscular Junction acetylcholine receptor antibody positivity	1134	CHRNA1	OMIM:608930
HP:0030208	Anti-neuromuscular Junction acetylcholine receptor antibody positivity	6329	SCN4A	OMIM:614198
HP:0030208	Anti-neuromuscular Junction acetylcholine receptor antibody positivity	5913	RAPSN	OMIM:616326
HP:0030208	Anti-neuromuscular Junction acetylcholine receptor antibody positivity	199857	ALG14	OMIM:616227
HP:0030208	Anti-neuromuscular Junction acetylcholine receptor antibody positivity	1103	CHAT	OMIM:254210
HP:0030208	Anti-neuromuscular Junction acetylcholine receptor antibody positivity	1103	CHAT	ORPHA:98914
HP:0030208	Anti-neuromuscular Junction acetylcholine receptor antibody positivity	4593	MUSK	OMIM:616325
HP:0030208	Anti-neuromuscular Junction acetylcholine receptor antibody positivity	1140	CHRNB1	OMIM:616314
HP:0030208	Anti-neuromuscular Junction acetylcholine receptor antibody positivity	1140	CHRNB1	OMIM:616313
HP:0030208	Anti-neuromuscular Junction acetylcholine receptor antibody positivity	1145	CHRNE	OMIM:616324
HP:0030208	Anti-neuromuscular Junction acetylcholine receptor antibody positivity	1144	CHRND	OMIM:616323
HP:0030208	Anti-neuromuscular Junction acetylcholine receptor antibody positivity	9581	PREPL	OMIM:616224
HP:0030208	Anti-neuromuscular Junction acetylcholine receptor antibody positivity	60482	SLC5A7	ORPHA:98914
HP:0030208	Anti-neuromuscular Junction acetylcholine receptor antibody positivity	4649	MYO9A	ORPHA:98914
HP:0030208	Anti-neuromuscular Junction acetylcholine receptor antibody positivity	1305	COL13A1	ORPHA:98914
HP:0030208	Anti-neuromuscular Junction acetylcholine receptor antibody positivity	6576	SLC25A1	ORPHA:98914
HP:0030208	Anti-neuromuscular Junction acetylcholine receptor antibody positivity	6843	VAMP1	ORPHA:98914
HP:0030208	Anti-neuromuscular Junction acetylcholine receptor antibody positivity	375790	AGRN	ORPHA:98914
HP:0030208	Anti-neuromuscular Junction acetylcholine receptor antibody positivity	127833	SYT2	ORPHA:98914
HP:0030208	Anti-neuromuscular Junction acetylcholine receptor antibody positivity	6572	SLC18A3	ORPHA:98914
HP:0030208	Anti-neuromuscular Junction acetylcholine receptor antibody positivity	6616	SNAP25	ORPHA:98914
HP:0030208	Anti-neuromuscular Junction acetylcholine receptor antibody positivity	8292	COLQ	OMIM:603034
HP:0030208	Anti-neuromuscular Junction acetylcholine receptor antibody positivity	285489	DOK7	OMIM:254300
HP:0030207	Paradoxical respiration	1410	CRYAB	OMIM:608810
HP:0030207	Paradoxical respiration	65055	REEP1	OMIM:620011
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	6253	RTN2	ORPHA:100993
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	51271	UBAP1	ORPHA:100993
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	126129	CPT1C	ORPHA:444099
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	9897	WASHC5	OMIM:603563
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	9897	WASHC5	ORPHA:100989
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	123606	NIPA1	OMIM:600363
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	6687	SPG7	OMIM:607259
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	3839	KPNA3	ORPHA:171612
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	9197	SLC33A1	ORPHA:171863
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	6683	SPAST	OMIM:182601
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	51062	ATL1	OMIM:182600
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	6647	SOD1	OMIM:105400
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	5630	PRPH	OMIM:105400
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	1639	DCTN1	OMIM:105400
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	4744	NEFH	OMIM:105400
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	5354	PLP1	OMIM:312920
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	2521	FUS	ORPHA:275872
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	8878	SQSTM1	ORPHA:275872
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	7415	VCP	ORPHA:275872
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	23435	TARDBP	ORPHA:275872
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	29110	TBK1	ORPHA:275872
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	400916	CHCHD10	ORPHA:275872
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	80208	SPG11	OMIM:604360
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	4508	MT-ATP6	ORPHA:644
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	4508	MT-ATP6	OMIM:551500
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	6804	STX1A	ORPHA:904
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	7461	CLIP2	ORPHA:904
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	84277	DNAJC30	ORPHA:904
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	8468	FKBP6	ORPHA:904
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	5982	RFC2	ORPHA:904
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	2969	GTF2I	ORPHA:904
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	3984	LIMK1	ORPHA:904
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	9569	GTF2IRD1	ORPHA:904
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	155382	VPS37D	ORPHA:904
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	155368	METTL27	ORPHA:904
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	114049	BUD23	ORPHA:904
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	7458	EIF4H	ORPHA:904
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	84163	GTF2IRD2	ORPHA:904
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	26608	TBL2	ORPHA:904
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	653361	NCF1	ORPHA:904
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	135886	TMEM270	ORPHA:904
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	9031	BAZ1B	ORPHA:904
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	2006	ELN	ORPHA:904
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	215	ABCD1	ORPHA:139399
HP:0007373	Motor neuron atrophy	23064	SETX	OMIM:602433
HP:0007373	Motor neuron atrophy	427	ASAH1	OMIM:159950
HP:0007373	Motor neuron atrophy	7317	UBA1	OMIM:301830
HP:0007373	Motor neuron atrophy	7317	UBA1	ORPHA:1145
HP:0007373	Motor neuron atrophy	65250	CPLANE1	ORPHA:65684
HP:0007373	Motor neuron atrophy	57562	CEP126	ORPHA:65684
HP:0007373	Motor neuron atrophy	6606	SMN1	OMIM:253550
HP:0007373	Motor neuron atrophy	6606	SMN1	OMIM:271150
HP:0007373	Motor neuron atrophy	6606	SMN1	OMIM:253400
HP:0007373	Motor neuron atrophy	11340	EXOSC8	ORPHA:2254
HP:0007373	Motor neuron atrophy	5393	EXOSC9	ORPHA:2254
HP:0007373	Motor neuron atrophy	23287	AGTPBP1	ORPHA:2254
HP:0007373	Motor neuron atrophy	51010	EXOSC3	ORPHA:2254
HP:0007373	Motor neuron atrophy	7443	VRK1	ORPHA:2254
HP:0007373	Motor neuron atrophy	7443	VRK1	OMIM:607596
HP:0007373	Motor neuron atrophy	91137	SLC25A46	ORPHA:2254
HP:0007373	Motor neuron atrophy	10342	TFG	OMIM:604484
HP:0007373	Motor neuron atrophy	4287	ATXN3	ORPHA:276244
HP:0007373	Motor neuron atrophy	3508	IGHMBP2	OMIM:604320
HP:0007373	Motor neuron atrophy	6607	SMN2	OMIM:253400
HP:0007373	Motor neuron atrophy	5663	PSEN1	OMIM:600274
HP:0007373	Motor neuron atrophy	4137	MAPT	OMIM:600274
HP:0007373	Motor neuron atrophy	1540	CYLD	OMIM:619132
HP:0007373	Motor neuron atrophy	7072	TIA1	OMIM:619133
HP:0007373	Motor neuron atrophy	57679	ALS2	OMIM:205100
HP:0007373	Motor neuron atrophy	57679	ALS2	ORPHA:300605
HP:0007373	Motor neuron atrophy	7277	TUBA4A	OMIM:616208
HP:0007373	Motor neuron atrophy	80208	SPG11	OMIM:602099
HP:0007373	Motor neuron atrophy	80208	SPG11	ORPHA:300605
HP:0007373	Motor neuron atrophy	203228	C9orf72	OMIM:105550
HP:0007373	Motor neuron atrophy	10280	SIGMAR1	ORPHA:300605
HP:0007373	Motor neuron atrophy	10280	SIGMAR1	OMIM:614373
HP:0007373	Motor neuron atrophy	10558	SPTLC1	ORPHA:300605
HP:0007373	Motor neuron atrophy	3798	KIF5A	OMIM:617921
HP:0007373	Motor neuron atrophy	54822	TRPM7	OMIM:105500
HP:0007373	Motor neuron atrophy	3181	HNRNPA2B1	ORPHA:52430
HP:0007373	Motor neuron atrophy	55131	RBM28	ORPHA:157954
HP:0007373	Motor neuron atrophy	25978	CHMP2B	ORPHA:803
HP:0007373	Motor neuron atrophy	3178	HNRNPA1	ORPHA:803
HP:0007373	Motor neuron atrophy	8148	TAF15	ORPHA:803
HP:0007373	Motor neuron atrophy	5445	PON2	ORPHA:803
HP:0007373	Motor neuron atrophy	9217	VAPB	ORPHA:803
HP:0007373	Motor neuron atrophy	8878	SQSTM1	ORPHA:803
HP:0007373	Motor neuron atrophy	5630	PRPH	ORPHA:803
HP:0007373	Motor neuron atrophy	29110	TBK1	ORPHA:803
HP:0007373	Motor neuron atrophy	55830	GLT8D1	ORPHA:803
HP:0007373	Motor neuron atrophy	755	CFAP410	ORPHA:803
HP:0007373	Motor neuron atrophy	10891	PPARGC1A	ORPHA:803
HP:0007373	Motor neuron atrophy	6647	SOD1	ORPHA:803
HP:0007373	Motor neuron atrophy	10133	OPTN	ORPHA:803
HP:0007373	Motor neuron atrophy	1639	DCTN1	ORPHA:803
HP:0007373	Motor neuron atrophy	9896	FIG4	ORPHA:803
HP:0007373	Motor neuron atrophy	5444	PON1	ORPHA:803
HP:0007373	Motor neuron atrophy	5446	PON3	ORPHA:803
HP:0007373	Motor neuron atrophy	4744	NEFH	ORPHA:803
HP:0007373	Motor neuron atrophy	5216	PFN1	ORPHA:803
HP:0007373	Motor neuron atrophy	9782	MATR3	ORPHA:803
HP:0007373	Motor neuron atrophy	54209	TREM2	ORPHA:803
HP:0007373	Motor neuron atrophy	7415	VCP	ORPHA:803
HP:0007373	Motor neuron atrophy	283	ANG	ORPHA:803
HP:0007373	Motor neuron atrophy	23435	TARDBP	ORPHA:803
HP:0007373	Motor neuron atrophy	29978	UBQLN2	ORPHA:803
HP:0007373	Motor neuron atrophy	2733	GLE1	ORPHA:803
HP:0007373	Motor neuron atrophy	2521	FUS	ORPHA:803
HP:0007373	Motor neuron atrophy	4750	NEK1	ORPHA:803
HP:0007373	Motor neuron atrophy	6311	ATXN2	ORPHA:803
HP:0007373	Motor neuron atrophy	1610	DAO	ORPHA:803
HP:0007373	Motor neuron atrophy	2066	ERBB4	ORPHA:803
HP:0007373	Motor neuron atrophy	311	ANXA11	ORPHA:803
HP:0007373	Motor neuron atrophy	23025	UNC13A	ORPHA:803
HP:0007373	Motor neuron atrophy	899	CCNF	ORPHA:803
HP:0007373	Motor neuron atrophy	400916	CHCHD10	ORPHA:803
HP:0007373	Motor neuron atrophy	5575	PRKAR1B	ORPHA:412066
HP:0007374	Atrophy/Degeneration involving the caudate nucleus	54209	TREM2	OMIM:618193
HP:0007374	Atrophy/Degeneration involving the caudate nucleus	1678	TIMM8A	ORPHA:52368
HP:0007374	Atrophy/Degeneration involving the caudate nucleus	9361	LONP1	OMIM:600373
HP:0007374	Atrophy/Degeneration involving the caudate nucleus	3064	HTT	ORPHA:399
HP:0007374	Atrophy/Degeneration involving the caudate nucleus	3064	HTT	OMIM:617435
HP:0007374	Atrophy/Degeneration involving the caudate nucleus	6515	SLC2A3	ORPHA:399
HP:0007374	Atrophy/Degeneration involving the caudate nucleus	26580	BSCL2	ORPHA:363400
HP:0007374	Atrophy/Degeneration involving the caudate nucleus	2512	FTL	ORPHA:157846
HP:0007374	Atrophy/Degeneration involving the caudate nucleus	7305	TYROBP	OMIM:221770
HP:0007374	Atrophy/Degeneration involving the caudate nucleus	440	ASNS	OMIM:615574
HP:0007374	Atrophy/Degeneration involving the caudate nucleus	23230	VPS13A	OMIM:200150
HP:0007374	Atrophy/Degeneration involving the caudate nucleus	23230	VPS13A	ORPHA:2388
HP:0007374	Atrophy/Degeneration involving the caudate nucleus	4750	NEK1	OMIM:617892
HP:0007374	Atrophy/Degeneration involving the caudate nucleus	93986	FOXP2	ORPHA:209908
HP:0007374	Atrophy/Degeneration involving the caudate nucleus	79133	NDUFAF5	OMIM:618238
HP:0007374	Atrophy/Degeneration involving the caudate nucleus	4983	OPHN1	ORPHA:137831
HP:0007374	Atrophy/Degeneration involving the caudate nucleus	57338	JPH3	ORPHA:98934
HP:0007374	Atrophy/Degeneration involving the caudate nucleus	4508	MT-ATP6	ORPHA:225154
HP:0007374	Atrophy/Degeneration involving the caudate nucleus	23636	NUP62	ORPHA:225154
HP:0007374	Atrophy/Degeneration involving the caudate nucleus	53371	NUP54	ORPHA:225154
HP:0007374	Atrophy/Degeneration involving the caudate nucleus	103	ADAR	ORPHA:225154
HP:0012670	Orthostatic syncope	1621	DBH	ORPHA:230
HP:0012670	Orthostatic syncope	27235	COQ2	ORPHA:227510
HP:0012670	Orthostatic syncope	27235	COQ2	ORPHA:98933
HP:0012671	Abulia	25978	CHMP2B	ORPHA:100069
HP:0012671	Abulia	25978	CHMP2B	ORPHA:275864
HP:0012671	Abulia	5663	PSEN1	ORPHA:100069
HP:0012671	Abulia	5663	PSEN1	ORPHA:275864
HP:0012671	Abulia	2896	GRN	ORPHA:100069
HP:0012671	Abulia	2896	GRN	ORPHA:275864
HP:0012671	Abulia	54664	TMEM106B	ORPHA:100069
HP:0012671	Abulia	54664	TMEM106B	ORPHA:275864
HP:0012671	Abulia	4137	MAPT	ORPHA:100069
HP:0012671	Abulia	4137	MAPT	ORPHA:275864
HP:0012671	Abulia	54209	TREM2	ORPHA:100069
HP:0012671	Abulia	54209	TREM2	ORPHA:275864
HP:0012671	Abulia	5654	HTRA1	ORPHA:199354
HP:0012671	Abulia	8878	SQSTM1	ORPHA:275864
HP:0012671	Abulia	7415	VCP	ORPHA:275864
HP:0012671	Abulia	4854	NOTCH3	OMIM:125310
HP:0012672	Akinetic mutism	1641	DCX	ORPHA:2148
HP:0012672	Akinetic mutism	51324	SPG21	OMIM:248900
HP:0012672	Akinetic mutism	5621	PRNP	ORPHA:282166
HP:0012672	Akinetic mutism	5654	HTRA1	ORPHA:199354
HP:0012675	Iron accumulation in brain	80347	COASY	ORPHA:397725
HP:0012675	Iron accumulation in brain	27072	VPS41	OMIM:619389
HP:0012675	Iron accumulation in brain	83636	C19orf12	OMIM:614298
HP:0012675	Iron accumulation in brain	79152	FA2H	ORPHA:171629
HP:0012675	Iron accumulation in brain	318	NUDT2	OMIM:619844
HP:0012675	Iron accumulation in brain	1737	DLAT	ORPHA:79244
HP:0012675	Iron accumulation in brain	8398	PLA2G6	OMIM:256600
HP:0012675	Iron accumulation in brain	8398	PLA2G6	ORPHA:199351
HP:0012675	Iron accumulation in brain	8398	PLA2G6	ORPHA:35069
HP:0012675	Iron accumulation in brain	2495	FTH1	OMIM:620669
HP:0012675	Iron accumulation in brain	23230	VPS13A	ORPHA:2388
HP:0012675	Iron accumulation in brain	1356	CP	ORPHA:48818
HP:0012675	Iron accumulation in brain	11152	WDR45	OMIM:300894
HP:0012675	Iron accumulation in brain	11152	WDR45	ORPHA:329284
HP:0012675	Iron accumulation in brain	2512	FTL	ORPHA:157846
HP:0012675	Iron accumulation in brain	1384	CRAT	OMIM:617917
HP:0012675	Iron accumulation in brain	85021	REPS1	OMIM:617916
HP:0012675	Iron accumulation in brain	80025	PANK2	ORPHA:216866
HP:0012675	Iron accumulation in brain	6905	TBCE	ORPHA:496756
HP:0012678	Iron accumulation in substantia nigra	2512	FTL	ORPHA:157846
HP:0012678	Iron accumulation in substantia nigra	11152	WDR45	ORPHA:329284
HP:0012678	Iron accumulation in substantia nigra	27072	VPS41	OMIM:619389
HP:0012678	Iron accumulation in substantia nigra	6905	TBCE	ORPHA:496756
HP:0012679	Widened interpedicular distance	2261	FGFR3	OMIM:146000
HP:0007375	Abnormal septum pellucidum morphology	8820	HESX1	OMIM:182230
HP:0007375	Abnormal septum pellucidum morphology	8820	HESX1	ORPHA:95494
HP:0007375	Abnormal septum pellucidum morphology	8820	HESX1	ORPHA:3157
HP:0007375	Abnormal septum pellucidum morphology	4784	NFIX	OMIM:602535
HP:0007375	Abnormal septum pellucidum morphology	6748	SSR4	ORPHA:370927
HP:0007375	Abnormal septum pellucidum morphology	2263	FGFR2	ORPHA:87
HP:0007375	Abnormal septum pellucidum morphology	2263	FGFR2	OMIM:101200
HP:0007375	Abnormal septum pellucidum morphology	51360	MBTPS2	ORPHA:2273
HP:0007375	Abnormal septum pellucidum morphology	23007	PLCH1	OMIM:619895
HP:0007375	Abnormal septum pellucidum morphology	4593	MUSK	OMIM:208150
HP:0007375	Abnormal septum pellucidum morphology	23019	CNOT1	OMIM:618500
HP:0007375	Abnormal septum pellucidum morphology	54539	NDUFB11	OMIM:309801
HP:0007375	Abnormal septum pellucidum morphology	54539	NDUFB11	ORPHA:2556
HP:0007375	Abnormal septum pellucidum morphology	1349	COX7B	OMIM:309801
HP:0007375	Abnormal septum pellucidum morphology	1349	COX7B	ORPHA:2556
HP:0007375	Abnormal septum pellucidum morphology	3052	HCCS	OMIM:309801
HP:0007375	Abnormal septum pellucidum morphology	3052	HCCS	ORPHA:2556
HP:0007375	Abnormal septum pellucidum morphology	9791	PTDSS1	ORPHA:2658
HP:0007375	Abnormal septum pellucidum morphology	4659	PPP1R12A	OMIM:618820
HP:0007375	Abnormal septum pellucidum morphology	2146	EZH2	OMIM:277590
HP:0007375	Abnormal septum pellucidum morphology	2260	FGFR1	ORPHA:2396
HP:0007375	Abnormal septum pellucidum morphology	2260	FGFR1	ORPHA:3157
HP:0007375	Abnormal septum pellucidum morphology	3845	KRAS	ORPHA:2396
HP:0007375	Abnormal septum pellucidum morphology	3845	KRAS	ORPHA:3339
HP:0007375	Abnormal septum pellucidum morphology	79813	EHMT1	ORPHA:96147
HP:0007375	Abnormal septum pellucidum morphology	3897	L1CAM	OMIM:307000
HP:0007375	Abnormal septum pellucidum morphology	3897	L1CAM	ORPHA:2182
HP:0007375	Abnormal septum pellucidum morphology	219844	HYLS1	OMIM:236680
HP:0007375	Abnormal septum pellucidum morphology	219844	HYLS1	ORPHA:2189
HP:0007375	Abnormal septum pellucidum morphology	80781	COL18A1	OMIM:267750
HP:0007375	Abnormal septum pellucidum morphology	79848	CSPP1	ORPHA:397715
HP:0007375	Abnormal septum pellucidum morphology	9786	KIAA0586	ORPHA:397715
HP:0007375	Abnormal septum pellucidum morphology	1781	DYNC1I2	OMIM:618492
HP:0007375	Abnormal septum pellucidum morphology	5626	PROP1	ORPHA:95494
HP:0007375	Abnormal septum pellucidum morphology	89884	LHX4	ORPHA:95494
HP:0007375	Abnormal septum pellucidum morphology	3170	FOXA2	ORPHA:95494
HP:0007375	Abnormal septum pellucidum morphology	5449	POU1F1	ORPHA:95494
HP:0007375	Abnormal septum pellucidum morphology	5015	OTX2	ORPHA:95494
HP:0007375	Abnormal septum pellucidum morphology	5015	OTX2	ORPHA:3157
HP:0007375	Abnormal septum pellucidum morphology	1718	DHCR24	ORPHA:35107
HP:0007375	Abnormal septum pellucidum morphology	11041	B4GAT1	OMIM:615287
HP:0007375	Abnormal septum pellucidum morphology	11041	B4GAT1	ORPHA:899
HP:0007375	Abnormal septum pellucidum morphology	5277	PIGA	OMIM:300868
HP:0007375	Abnormal septum pellucidum morphology	55790	CSGALNACT1	OMIM:618870
HP:0007375	Abnormal septum pellucidum morphology	55215	FANCI	OMIM:609053
HP:0007375	Abnormal septum pellucidum morphology	22858	CILK1	OMIM:612651
HP:0007375	Abnormal septum pellucidum morphology	374654	KIF7	ORPHA:2189
HP:0007375	Abnormal septum pellucidum morphology	63895	PIEZO2	ORPHA:2461
HP:0007375	Abnormal septum pellucidum morphology	7468	NSD2	OMIM:194190
HP:0007375	Abnormal septum pellucidum morphology	10815	CPLX1	OMIM:194190
HP:0007375	Abnormal septum pellucidum morphology	1487	CTBP1	OMIM:194190
HP:0007375	Abnormal septum pellucidum morphology	53834	FGFRL1	OMIM:194190
HP:0007375	Abnormal septum pellucidum morphology	3954	LETM1	OMIM:194190
HP:0007375	Abnormal septum pellucidum morphology	128674	PROKR2	ORPHA:3157
HP:0007375	Abnormal septum pellucidum morphology	6657	SOX2	ORPHA:3157
HP:0007375	Abnormal septum pellucidum morphology	6658	SOX3	ORPHA:3157
HP:0007375	Abnormal septum pellucidum morphology	9915	ARNT2	ORPHA:3157
HP:0007375	Abnormal septum pellucidum morphology	57688	ZSWIM6	OMIM:603671
HP:0007375	Abnormal septum pellucidum morphology	84892	POMGNT2	ORPHA:899
HP:0007375	Abnormal septum pellucidum morphology	148789	B3GALNT2	ORPHA:899
HP:0007375	Abnormal septum pellucidum morphology	79147	FKRP	ORPHA:899
HP:0007375	Abnormal septum pellucidum morphology	29954	POMT2	ORPHA:899
HP:0007375	Abnormal septum pellucidum morphology	9215	LARGE1	ORPHA:899
HP:0007375	Abnormal septum pellucidum morphology	1282	COL4A1	ORPHA:899
HP:0007375	Abnormal septum pellucidum morphology	729920	CRPPA	ORPHA:899
HP:0007375	Abnormal septum pellucidum morphology	10329	RXYLT1	ORPHA:899
HP:0007375	Abnormal septum pellucidum morphology	1605	DAG1	ORPHA:899
HP:0007375	Abnormal septum pellucidum morphology	10585	POMT1	ORPHA:899
HP:0007375	Abnormal septum pellucidum morphology	84197	POMK	ORPHA:899
HP:0007375	Abnormal septum pellucidum morphology	2218	FKTN	ORPHA:899
HP:0007375	Abnormal septum pellucidum morphology	55624	POMGNT1	ORPHA:899
HP:0007375	Abnormal septum pellucidum morphology	2615	LRRC32	OMIM:619074
HP:0007375	Abnormal septum pellucidum morphology	54941	RNF125	OMIM:616260
HP:0007375	Abnormal septum pellucidum morphology	64324	NSD1	OMIM:117550
HP:0007375	Abnormal septum pellucidum morphology	64324	NSD1	ORPHA:821
HP:0007375	Abnormal septum pellucidum morphology	347733	TUBB2B	ORPHA:300573
HP:0007375	Abnormal septum pellucidum morphology	5528	PPP2R5D	ORPHA:457279
HP:0007375	Abnormal septum pellucidum morphology	25885	POLR1A	OMIM:616462
HP:0007375	Abnormal septum pellucidum morphology	8815	BANF1	OMIM:614008
HP:0007375	Abnormal septum pellucidum morphology	81857	MED25	ORPHA:464738
HP:0007375	Abnormal septum pellucidum morphology	81857	MED25	OMIM:616449
HP:0007375	Abnormal septum pellucidum morphology	3703	STT3A	OMIM:619714
HP:0007375	Abnormal septum pellucidum morphology	253738	EBF3	ORPHA:96148
HP:0007375	Abnormal septum pellucidum morphology	5048	PAFAH1B1	ORPHA:95232
HP:0007375	Abnormal septum pellucidum morphology	9939	RBM8A	OMIM:274000
HP:0007375	Abnormal septum pellucidum morphology	7080	NKX2-1	ORPHA:209905
HP:0007375	Abnormal septum pellucidum morphology	79087	ALG12	ORPHA:79324
HP:0007375	Abnormal septum pellucidum morphology	10297	APC2	ORPHA:821
HP:0007375	Abnormal septum pellucidum morphology	7703	PCGF2	OMIM:618371
HP:0007375	Abnormal septum pellucidum morphology	129285	PPP1R21	OMIM:619383
HP:0007375	Abnormal septum pellucidum morphology	5290	PIK3CA	OMIM:602501
HP:0007375	Abnormal septum pellucidum morphology	55181	SMG8	OMIM:619268
HP:0007375	Abnormal septum pellucidum morphology	5594	MAPK1	OMIM:619087
HP:0007375	Abnormal septum pellucidum morphology	64121	RRAGC	OMIM:620609
HP:0007375	Abnormal septum pellucidum morphology	8550	MAPKAPK5	OMIM:619869
HP:0007375	Abnormal septum pellucidum morphology	55969	RAB5IF	OMIM:616994
HP:0007375	Abnormal septum pellucidum morphology	55690	PACS1	ORPHA:329224
HP:0007375	Abnormal septum pellucidum morphology	55690	PACS1	OMIM:615009
HP:0007375	Abnormal septum pellucidum morphology	5908	RAP1B	OMIM:620654
HP:0007375	Abnormal septum pellucidum morphology	4286	MITF	OMIM:617306
HP:0007375	Abnormal septum pellucidum morphology	26834	RNU4-2	OMIM:620851
HP:0007375	Abnormal septum pellucidum morphology	6872	TAF1	OMIM:300966
HP:0007375	Abnormal septum pellucidum morphology	3417	IDH1	ORPHA:99646
HP:0007375	Abnormal septum pellucidum morphology	28514	DLL1	ORPHA:280195
HP:0007375	Abnormal septum pellucidum morphology	2253	FGF8	ORPHA:280195
HP:0007375	Abnormal septum pellucidum morphology	6496	SIX3	ORPHA:280195
HP:0007375	Abnormal septum pellucidum morphology	7050	TGIF1	ORPHA:280195
HP:0007375	Abnormal septum pellucidum morphology	4838	NODAL	ORPHA:280195
HP:0007375	Abnormal septum pellucidum morphology	6469	SHH	ORPHA:280195
HP:0007375	Abnormal septum pellucidum morphology	7546	ZIC2	ORPHA:280195
HP:0007375	Abnormal septum pellucidum morphology	6491	STIL	ORPHA:280195
HP:0007375	Abnormal septum pellucidum morphology	2619	GAS1	ORPHA:280195
HP:0007375	Abnormal septum pellucidum morphology	84976	DISP1	ORPHA:280195
HP:0007375	Abnormal septum pellucidum morphology	2736	GLI2	ORPHA:280195
HP:0007375	Abnormal septum pellucidum morphology	8928	FOXH1	ORPHA:280195
HP:0007375	Abnormal septum pellucidum morphology	6997	CRIPTO	ORPHA:280195
HP:0007375	Abnormal septum pellucidum morphology	5727	PTCH1	ORPHA:280195
HP:0007375	Abnormal septum pellucidum morphology	50937	CDON	ORPHA:280195
HP:0007375	Abnormal septum pellucidum morphology	90952	ESAM	OMIM:620371
HP:0007375	Abnormal septum pellucidum morphology	9373	PLAA	OMIM:617527
HP:0007375	Abnormal septum pellucidum morphology	10735	STAG2	OMIM:301043
HP:0007375	Abnormal septum pellucidum morphology	55717	WDR11	ORPHA:95496
HP:0007375	Abnormal septum pellucidum morphology	6091	ROBO1	ORPHA:95496
HP:0007375	Abnormal septum pellucidum morphology	23432	GPR161	ORPHA:95496
HP:0007375	Abnormal septum pellucidum morphology	9578	CDC42BPB	OMIM:619841
HP:0007375	Abnormal septum pellucidum morphology	7473	WNT3	ORPHA:3301
HP:0007375	Abnormal septum pellucidum morphology	340419	RSPO2	ORPHA:3301
HP:0007375	Abnormal septum pellucidum morphology	9496	TBX4	ORPHA:3301
HP:0007376	Abnormal choroid plexus morphology	2271	FH	OMIM:606812
HP:0007376	Abnormal choroid plexus morphology	2294	FOXF1	OMIM:265380
HP:0007376	Abnormal choroid plexus morphology	27031	NPHP3	OMIM:267010
HP:0007376	Abnormal choroid plexus morphology	149371	EXOC8	OMIM:619076
HP:0007376	Abnormal choroid plexus morphology	23327	NEDD4L	OMIM:617201
HP:0007376	Abnormal choroid plexus morphology	7543	ZFX	OMIM:301118
HP:0007376	Abnormal choroid plexus morphology	112752	IFT43	OMIM:617866
HP:0007376	Abnormal choroid plexus morphology	10472	ZBTB18	OMIM:612337
HP:0007376	Abnormal choroid plexus morphology	57688	ZSWIM6	ORPHA:1827
HP:0007376	Abnormal choroid plexus morphology	57688	ZSWIM6	OMIM:603671
HP:0007376	Abnormal choroid plexus morphology	26040	SETBP1	ORPHA:798
HP:0007376	Abnormal choroid plexus morphology	26227	PHGDH	OMIM:256520
HP:0007376	Abnormal choroid plexus morphology	2778	GNAS	OMIM:612462
HP:0007376	Abnormal choroid plexus morphology	2778	GNAS	OMIM:103580
HP:0007376	Abnormal choroid plexus morphology	2778	GNAS	ORPHA:79443
HP:0007376	Abnormal choroid plexus morphology	2778	GNAS	ORPHA:79444
HP:0007376	Abnormal choroid plexus morphology	1075	CTSC	OMIM:245000
HP:0007376	Abnormal choroid plexus morphology	7157	TP53	OMIM:202300
HP:0007376	Abnormal choroid plexus morphology	7157	TP53	ORPHA:524
HP:0007376	Abnormal choroid plexus morphology	6598	SMARCB1	OMIM:609322
HP:0007376	Abnormal choroid plexus morphology	1029	CDKN2A	ORPHA:524
HP:0007376	Abnormal choroid plexus morphology	4193	MDM2	ORPHA:524
HP:0007376	Abnormal choroid plexus morphology	11200	CHEK2	ORPHA:524
HP:0007376	Abnormal choroid plexus morphology	4893	NRAS	OMIM:249400
HP:0007377	Abnormality of somatosensory evoked potentials	401474	SAMD12	OMIM:601068
HP:0007377	Abnormality of somatosensory evoked potentials	56910	STARD7	OMIM:607876
HP:0007377	Abnormality of somatosensory evoked potentials	10501	SEMA6B	OMIM:618876
HP:0007377	Abnormality of somatosensory evoked potentials	378884	NHLRC1	ORPHA:501
HP:0007377	Abnormality of somatosensory evoked potentials	7957	EPM2A	ORPHA:501
HP:0007377	Abnormality of somatosensory evoked potentials	10299	MARCHF6	OMIM:613608
HP:0007377	Abnormality of somatosensory evoked potentials	55689	YEATS2	OMIM:615127
HP:0007377	Abnormality of somatosensory evoked potentials	57465	TBC1D24	OMIM:608105
HP:0007377	Abnormality of somatosensory evoked potentials	57465	TBC1D24	ORPHA:163727
HP:0007377	Abnormality of somatosensory evoked potentials	1593	CYP27A1	ORPHA:909
HP:0007377	Abnormality of somatosensory evoked potentials	1678	TIMM8A	ORPHA:52368
HP:0007377	Abnormality of somatosensory evoked potentials	6687	SPG7	OMIM:607259
HP:0007377	Abnormality of somatosensory evoked potentials	5631	PRPS1	ORPHA:1187
HP:0007377	Abnormality of somatosensory evoked potentials	5354	PLP1	ORPHA:280219
HP:0007377	Abnormality of somatosensory evoked potentials	4001	LMNB1	ORPHA:99027
HP:0007377	Abnormality of somatosensory evoked potentials	57165	GJC2	ORPHA:320401
HP:0007377	Abnormality of somatosensory evoked potentials	6310	ATXN1	ORPHA:98755
HP:0007377	Abnormality of somatosensory evoked potentials	22880	MORC2	ORPHA:466768
HP:0007377	Abnormality of somatosensory evoked potentials	57679	ALS2	OMIM:205100
HP:0007377	Abnormality of somatosensory evoked potentials	84668	HYCC1	OMIM:610532
HP:0007377	Abnormality of somatosensory evoked potentials	7274	TTPA	OMIM:277460
HP:0007377	Abnormality of somatosensory evoked potentials	215	ABCD1	ORPHA:139399
HP:0007378	Neoplasm of the gastrointestinal tract	435	ASL	ORPHA:23
HP:0007378	Neoplasm of the gastrointestinal tract	355	FAS	ORPHA:3261
HP:0007378	Neoplasm of the gastrointestinal tract	356	FASLG	ORPHA:3261
HP:0007378	Neoplasm of the gastrointestinal tract	843	CASP10	ORPHA:3261
HP:0007378	Neoplasm of the gastrointestinal tract	695	BTK	OMIM:300755
HP:0007378	Neoplasm of the gastrointestinal tract	5265	SERPINA1	OMIM:613490
HP:0007378	Neoplasm of the gastrointestinal tract	5265	SERPINA1	ORPHA:60
HP:0007378	Neoplasm of the gastrointestinal tract	3043	HBB	ORPHA:231214
HP:0007378	Neoplasm of the gastrointestinal tract	3043	HBB	ORPHA:231222
HP:0007378	Neoplasm of the gastrointestinal tract	3043	HBB	ORPHA:231226
HP:0007378	Neoplasm of the gastrointestinal tract	83932	SPRTN	OMIM:616200
HP:0007378	Neoplasm of the gastrointestinal tract	9414	TJP2	OMIM:615878
HP:0007378	Neoplasm of the gastrointestinal tract	2542	SLC37A4	OMIM:232220
HP:0007378	Neoplasm of the gastrointestinal tract	2542	SLC37A4	ORPHA:79259
HP:0007378	Neoplasm of the gastrointestinal tract	2542	SLC37A4	OMIM:232240
HP:0007378	Neoplasm of the gastrointestinal tract	2153	F5	OMIM:600880
HP:0007378	Neoplasm of the gastrointestinal tract	3717	JAK2	OMIM:600880
HP:0007378	Neoplasm of the gastrointestinal tract	3594	IL12RB1	ORPHA:186
HP:0007378	Neoplasm of the gastrointestinal tract	23534	TNPO3	ORPHA:186
HP:0007378	Neoplasm of the gastrointestinal tract	3592	IL12A	ORPHA:186
HP:0007378	Neoplasm of the gastrointestinal tract	6689	SPIB	ORPHA:186
HP:0007378	Neoplasm of the gastrointestinal tract	5450	POU2AF1	ORPHA:186
HP:0007378	Neoplasm of the gastrointestinal tract	9966	TNFSF15	ORPHA:186
HP:0007378	Neoplasm of the gastrointestinal tract	79258	MMEL1	ORPHA:186
HP:0007378	Neoplasm of the gastrointestinal tract	3663	IRF5	ORPHA:186
HP:0007378	Neoplasm of the gastrointestinal tract	64218	SEMA4A	ORPHA:440437
HP:0007378	Neoplasm of the gastrointestinal tract	472	ATM	ORPHA:440437
HP:0007378	Neoplasm of the gastrointestinal tract	5426	POLE	ORPHA:440437
HP:0007378	Neoplasm of the gastrointestinal tract	6224	RPS20	ORPHA:440437
HP:0007378	Neoplasm of the gastrointestinal tract	5424	POLD1	ORPHA:440437
HP:0007378	Neoplasm of the gastrointestinal tract	182	JAG1	OMIM:118450
HP:0007378	Neoplasm of the gastrointestinal tract	6514	SLC2A2	ORPHA:2088
HP:0007378	Neoplasm of the gastrointestinal tract	3145	HMBS	OMIM:176000
HP:0007378	Neoplasm of the gastrointestinal tract	3145	HMBS	ORPHA:79276
HP:0007378	Neoplasm of the gastrointestinal tract	540	ATP7B	OMIM:277900
HP:0007378	Neoplasm of the gastrointestinal tract	10165	SLC25A13	OMIM:603471
HP:0007378	Neoplasm of the gastrointestinal tract	10165	SLC25A13	ORPHA:247585
HP:0007378	Neoplasm of the gastrointestinal tract	8647	ABCB11	OMIM:601847
HP:0007378	Neoplasm of the gastrointestinal tract	2859	GPR35	ORPHA:171
HP:0007378	Neoplasm of the gastrointestinal tract	10507	SEMA4D	ORPHA:171
HP:0007378	Neoplasm of the gastrointestinal tract	4485	MST1	ORPHA:171
HP:0007378	Neoplasm of the gastrointestinal tract	6925	TCF4	ORPHA:171
HP:0007378	Neoplasm of the gastrointestinal tract	2538	G6PC1	OMIM:232200
HP:0007378	Neoplasm of the gastrointestinal tract	4358	MPV17	OMIM:256810
HP:0007378	Neoplasm of the gastrointestinal tract	654	BMP6	ORPHA:465508
HP:0007378	Neoplasm of the gastrointestinal tract	3077	HFE	ORPHA:465508
HP:0007378	Neoplasm of the gastrointestinal tract	3077	HFE	OMIM:235200
HP:0007378	Neoplasm of the gastrointestinal tract	5257	PHKB	ORPHA:79240
HP:0007378	Neoplasm of the gastrointestinal tract	2184	FAH	OMIM:276700
HP:0007378	Neoplasm of the gastrointestinal tract	2184	FAH	ORPHA:882
HP:0007378	Neoplasm of the gastrointestinal tract	3481	IGF2	OMIM:180860
HP:0007378	Neoplasm of the gastrointestinal tract	5836	PYGL	ORPHA:369
HP:0007378	Neoplasm of the gastrointestinal tract	191	AHCY	ORPHA:88618
HP:0007378	Neoplasm of the gastrointestinal tract	4233	MET	OMIM:114550
HP:0007378	Neoplasm of the gastrointestinal tract	8312	AXIN1	OMIM:114550
HP:0007378	Neoplasm of the gastrointestinal tract	3482	IGF2R	OMIM:114550
HP:0007378	Neoplasm of the gastrointestinal tract	841	CASP8	OMIM:114550
HP:0007378	Neoplasm of the gastrointestinal tract	55340	GIMAP5	OMIM:619463
HP:0007378	Neoplasm of the gastrointestinal tract	7289	TULP3	OMIM:619902
HP:0007378	Neoplasm of the gastrointestinal tract	1371	CPOX	ORPHA:79273
HP:0007378	Neoplasm of the gastrointestinal tract	7389	UROD	OMIM:176100
HP:0007378	Neoplasm of the gastrointestinal tract	5498	PPOX	ORPHA:79473
HP:0007378	Neoplasm of the gastrointestinal tract	650	BMP2	OMIM:235200
HP:0007378	Neoplasm of the gastrointestinal tract	4221	MEN1	ORPHA:652
HP:0007378	Neoplasm of the gastrointestinal tract	4221	MEN1	ORPHA:97279
HP:0007378	Neoplasm of the gastrointestinal tract	4221	MEN1	OMIM:131100
HP:0007378	Neoplasm of the gastrointestinal tract	1027	CDKN1B	ORPHA:652
HP:0007378	Neoplasm of the gastrointestinal tract	1027	CDKN1B	ORPHA:276152
HP:0007378	Neoplasm of the gastrointestinal tract	1026	CDKN1A	ORPHA:652
HP:0007378	Neoplasm of the gastrointestinal tract	1030	CDKN2B	ORPHA:652
HP:0007378	Neoplasm of the gastrointestinal tract	1031	CDKN2C	ORPHA:652
HP:0007378	Neoplasm of the gastrointestinal tract	63895	PIEZO2	OMIM:248700
HP:0007378	Neoplasm of the gastrointestinal tract	546	ATRX	ORPHA:100075
HP:0007378	Neoplasm of the gastrointestinal tract	2642	GCGR	ORPHA:438274
HP:0007378	Neoplasm of the gastrointestinal tract	7528	YY1	ORPHA:97279
HP:0007378	Neoplasm of the gastrointestinal tract	2239	GPC4	ORPHA:373
HP:0007378	Neoplasm of the gastrointestinal tract	2239	GPC4	OMIM:312870
HP:0007378	Neoplasm of the gastrointestinal tract	1028	CDKN1C	OMIM:130650
HP:0007378	Neoplasm of the gastrointestinal tract	3784	KCNQ1	OMIM:130650
HP:0007378	Neoplasm of the gastrointestinal tract	10984	KCNQ1OT1	OMIM:130650
HP:0007378	Neoplasm of the gastrointestinal tract	9652	SKIC3	ORPHA:84064
HP:0007378	Neoplasm of the gastrointestinal tract	6499	SKIC2	ORPHA:84064
HP:0007378	Neoplasm of the gastrointestinal tract	6597	SMARCA4	ORPHA:1465
HP:0007378	Neoplasm of the gastrointestinal tract	6598	SMARCB1	ORPHA:1465
HP:0007378	Neoplasm of the gastrointestinal tract	6659	SOX4	ORPHA:1465
HP:0007378	Neoplasm of the gastrointestinal tract	8289	ARID1A	ORPHA:1465
HP:0007378	Neoplasm of the gastrointestinal tract	5977	DPF2	ORPHA:1465
HP:0007378	Neoplasm of the gastrointestinal tract	6601	SMARCC2	ORPHA:1465
HP:0007378	Neoplasm of the gastrointestinal tract	6602	SMARCD1	ORPHA:1465
HP:0007378	Neoplasm of the gastrointestinal tract	57492	ARID1B	ORPHA:1465
HP:0007378	Neoplasm of the gastrointestinal tract	196528	ARID2	ORPHA:1465
HP:0007378	Neoplasm of the gastrointestinal tract	6605	SMARCE1	ORPHA:1465
HP:0007378	Neoplasm of the gastrointestinal tract	6664	SOX11	ORPHA:1465
HP:0007378	Neoplasm of the gastrointestinal tract	26040	SETBP1	OMIM:269150
HP:0007378	Neoplasm of the gastrointestinal tract	26040	SETBP1	ORPHA:798
HP:0007378	Neoplasm of the gastrointestinal tract	388015	RTL1	ORPHA:96334
HP:0007378	Neoplasm of the gastrointestinal tract	8788	DLK1	ORPHA:96334
HP:0007378	Neoplasm of the gastrointestinal tract	55384	MEG3	ORPHA:96334
HP:0007378	Neoplasm of the gastrointestinal tract	199221	DZIP1L	ORPHA:731
HP:0007378	Neoplasm of the gastrointestinal tract	5314	PKHD1	ORPHA:731
HP:0007378	Neoplasm of the gastrointestinal tract	4072	EPCAM	ORPHA:144
HP:0007378	Neoplasm of the gastrointestinal tract	4292	MLH1	ORPHA:144
HP:0007378	Neoplasm of the gastrointestinal tract	5395	PMS2	ORPHA:144
HP:0007378	Neoplasm of the gastrointestinal tract	7048	TGFBR2	ORPHA:144
HP:0007378	Neoplasm of the gastrointestinal tract	3845	KRAS	ORPHA:144
HP:0007378	Neoplasm of the gastrointestinal tract	3845	KRAS	ORPHA:1333
HP:0007378	Neoplasm of the gastrointestinal tract	5290	PIK3CA	ORPHA:144
HP:0007378	Neoplasm of the gastrointestinal tract	2956	MSH6	ORPHA:144
HP:0007378	Neoplasm of the gastrointestinal tract	5378	PMS1	ORPHA:144
HP:0007378	Neoplasm of the gastrointestinal tract	4436	MSH2	ORPHA:144
HP:0007378	Neoplasm of the gastrointestinal tract	6609	SMPD1	ORPHA:77293
HP:0007378	Neoplasm of the gastrointestinal tract	5244	ABCB4	ORPHA:69663
HP:0007378	Neoplasm of the gastrointestinal tract	65998	ZFTA	ORPHA:251636
HP:0007378	Neoplasm of the gastrointestinal tract	4665	NAB2	ORPHA:2126
HP:0007378	Neoplasm of the gastrointestinal tract	6778	STAT6	ORPHA:2126
HP:0007378	Neoplasm of the gastrointestinal tract	56623	INPP5E	ORPHA:1454
HP:0007378	Neoplasm of the gastrointestinal tract	91147	TMEM67	ORPHA:1454
HP:0007378	Neoplasm of the gastrointestinal tract	23322	RPGRIP1L	ORPHA:1454
HP:0007378	Neoplasm of the gastrointestinal tract	57545	CC2D2A	ORPHA:1454
HP:0007378	Neoplasm of the gastrointestinal tract	672	BRCA1	ORPHA:1333
HP:0007378	Neoplasm of the gastrointestinal tract	285282	RABL3	ORPHA:1333
HP:0007378	Neoplasm of the gastrointestinal tract	675	BRCA2	ORPHA:1333
HP:0007378	Neoplasm of the gastrointestinal tract	675	BRCA2	ORPHA:654
HP:0007378	Neoplasm of the gastrointestinal tract	79728	PALB2	ORPHA:1333
HP:0007378	Neoplasm of the gastrointestinal tract	4089	SMAD4	ORPHA:1333
HP:0007378	Neoplasm of the gastrointestinal tract	23022	PALLD	ORPHA:1333
HP:0007378	Neoplasm of the gastrointestinal tract	5978	REST	ORPHA:654
HP:0007378	Neoplasm of the gastrointestinal tract	129563	DIS3L2	ORPHA:654
HP:0007378	Neoplasm of the gastrointestinal tract	9319	TRIP13	ORPHA:654
HP:0007378	Neoplasm of the gastrointestinal tract	7490	WT1	ORPHA:654
HP:0007378	Neoplasm of the gastrointestinal tract	10155	TRIM28	ORPHA:654
HP:0007378	Neoplasm of the gastrointestinal tract	11281	POU6F2	ORPHA:654
HP:0007378	Neoplasm of the gastrointestinal tract	2719	GPC3	ORPHA:654
HP:0007378	Neoplasm of the gastrointestinal tract	283120	H19	ORPHA:654
HP:0007378	Neoplasm of the gastrointestinal tract	716	C1S	OMIM:617174
HP:0007378	Neoplasm of the gastrointestinal tract	8930	MBD4	OMIM:619975
HP:0007378	Neoplasm of the gastrointestinal tract	4092	SMAD7	OMIM:612229
HP:0007378	Neoplasm of the gastrointestinal tract	2304	FOXE1	ORPHA:319487
HP:0007378	Neoplasm of the gastrointestinal tract	3026	HABP2	ORPHA:319487
HP:0007378	Neoplasm of the gastrointestinal tract	9562	MINPP1	ORPHA:319487
HP:0007378	Neoplasm of the gastrointestinal tract	10483	SEC23B	ORPHA:201
HP:0007378	Neoplasm of the gastrointestinal tract	205717	USF3	ORPHA:201
HP:0007378	Neoplasm of the gastrointestinal tract	100144748	KLLN	ORPHA:201
HP:0007378	Neoplasm of the gastrointestinal tract	11277	TREX1	OMIM:225750
HP:0007378	Neoplasm of the gastrointestinal tract	4437	MSH3	ORPHA:480536
HP:0007378	Neoplasm of the gastrointestinal tract	5727	PTCH1	OMIM:109400
HP:0007378	Neoplasm of the gastrointestinal tract	488	ATP2A2	ORPHA:218
HP:0007378	Neoplasm of the gastrointestinal tract	1736	DKC1	OMIM:305000
HP:0007378	Neoplasm of the gastrointestinal tract	2475	MTOR	ORPHA:457485
HP:0007378	Neoplasm of the gastrointestinal tract	83550	GPR101	ORPHA:963
HP:0007378	Neoplasm of the gastrointestinal tract	9049	AIP	ORPHA:963
HP:0007378	Neoplasm of the gastrointestinal tract	2778	GNAS	ORPHA:562
HP:0007378	Neoplasm of the gastrointestinal tract	699	BUB1	OMIM:114500
HP:0007378	Neoplasm of the gastrointestinal tract	581	BAX	OMIM:114500
HP:0007378	Neoplasm of the gastrointestinal tract	25788	RAD54B	OMIM:114500
HP:0007378	Neoplasm of the gastrointestinal tract	5795	PTPRJ	OMIM:114500
HP:0007378	Neoplasm of the gastrointestinal tract	5157	PDGFRL	OMIM:114500
HP:0007378	Neoplasm of the gastrointestinal tract	1630	DCC	OMIM:114500
HP:0007378	Neoplasm of the gastrointestinal tract	207	AKT1	OMIM:114500
HP:0007378	Neoplasm of the gastrointestinal tract	673	BRAF	OMIM:114500
HP:0007378	Neoplasm of the gastrointestinal tract	10395	DLC1	OMIM:114500
HP:0007378	Neoplasm of the gastrointestinal tract	8313	AXIN2	OMIM:114500
HP:0007378	Neoplasm of the gastrointestinal tract	4163	MCC	OMIM:114500
HP:0007378	Neoplasm of the gastrointestinal tract	2261	FGFR3	OMIM:114500
HP:0007378	Neoplasm of the gastrointestinal tract	201163	FLCN	OMIM:114500
HP:0007378	Neoplasm of the gastrointestinal tract	595	CCND1	OMIM:114500
HP:0007378	Neoplasm of the gastrointestinal tract	7097	TLR2	OMIM:114500
HP:0007378	Neoplasm of the gastrointestinal tract	6714	SRC	OMIM:114500
HP:0007378	Neoplasm of the gastrointestinal tract	2033	EP300	OMIM:114500
HP:0007378	Neoplasm of the gastrointestinal tract	27030	MLH3	OMIM:114500
HP:0007378	Neoplasm of the gastrointestinal tract	5320	PLA2G2A	OMIM:114500
HP:0007378	Neoplasm of the gastrointestinal tract	1499	CTNNB1	OMIM:114500
HP:0007378	Neoplasm of the gastrointestinal tract	6790	AURKA	OMIM:114500
HP:0007378	Neoplasm of the gastrointestinal tract	4893	NRAS	OMIM:114500
HP:0007378	Neoplasm of the gastrointestinal tract	324	APC	OMIM:114500
HP:0007378	Neoplasm of the gastrointestinal tract	701	BUB1B	OMIM:114500
HP:0007378	Neoplasm of the gastrointestinal tract	5782	PTPN12	OMIM:114500
HP:0007378	Neoplasm of the gastrointestinal tract	8314	BAP1	ORPHA:618
HP:0007378	Neoplasm of the gastrointestinal tract	4286	MITF	ORPHA:618
HP:0007378	Neoplasm of the gastrointestinal tract	1019	CDK4	ORPHA:618
HP:0007378	Neoplasm of the gastrointestinal tract	4255	MGMT	ORPHA:618
HP:0007378	Neoplasm of the gastrointestinal tract	54386	TERF2IP	ORPHA:618
HP:0007378	Neoplasm of the gastrointestinal tract	4157	MC1R	ORPHA:618
HP:0007378	Neoplasm of the gastrointestinal tract	65057	ACD	ORPHA:618
HP:0007378	Neoplasm of the gastrointestinal tract	7015	TERT	ORPHA:618
HP:0007378	Neoplasm of the gastrointestinal tract	25913	POT1	ORPHA:618
HP:0007378	Neoplasm of the gastrointestinal tract	5573	PRKAR1A	ORPHA:1359
HP:0007378	Neoplasm of the gastrointestinal tract	50940	PDE11A	ORPHA:1359
HP:0007378	Neoplasm of the gastrointestinal tract	81704	DOCK8	ORPHA:217390
HP:0007378	Neoplasm of the gastrointestinal tract	6390	SDHB	OMIM:606864
HP:0007378	Neoplasm of the gastrointestinal tract	6390	SDHB	ORPHA:44890
HP:0007378	Neoplasm of the gastrointestinal tract	6391	SDHC	OMIM:606864
HP:0007378	Neoplasm of the gastrointestinal tract	6391	SDHC	ORPHA:44890
HP:0007378	Neoplasm of the gastrointestinal tract	6392	SDHD	OMIM:606864
HP:0007378	Neoplasm of the gastrointestinal tract	6389	SDHA	ORPHA:44890
HP:0007378	Neoplasm of the gastrointestinal tract	5156	PDGFRA	ORPHA:44890
HP:0007378	Neoplasm of the gastrointestinal tract	3815	KIT	ORPHA:44890
HP:0007378	Neoplasm of the gastrointestinal tract	26585	GREM1	ORPHA:157794
HP:0007378	Neoplasm of the gastrointestinal tract	657	BMPR1A	ORPHA:157794
HP:0007378	Neoplasm of the gastrointestinal tract	7157	TP53	ORPHA:524
HP:0007378	Neoplasm of the gastrointestinal tract	1029	CDKN2A	ORPHA:524
HP:0007378	Neoplasm of the gastrointestinal tract	4193	MDM2	ORPHA:524
HP:0007378	Neoplasm of the gastrointestinal tract	11200	CHEK2	ORPHA:524
HP:0007378	Neoplasm of the gastrointestinal tract	51008	ASCC1	OMIM:614266
HP:0007378	Neoplasm of the gastrointestinal tract	115908	CTHRC1	OMIM:614266
HP:0007378	Neoplasm of the gastrointestinal tract	4481	MSR1	OMIM:614266
HP:0007378	Neoplasm of the gastrointestinal tract	6772	STAT1	ORPHA:391487
HP:0007378	Neoplasm of the gastrointestinal tract	6049	RNF6	ORPHA:99977
HP:0007378	Neoplasm of the gastrointestinal tract	6049	RNF6	OMIM:133239
HP:0007378	Neoplasm of the gastrointestinal tract	51741	WWOX	ORPHA:99977
HP:0007378	Neoplasm of the gastrointestinal tract	51741	WWOX	OMIM:133239
HP:0007378	Neoplasm of the gastrointestinal tract	9940	DLEC1	ORPHA:99977
HP:0007378	Neoplasm of the gastrointestinal tract	11178	LZTS1	OMIM:133239
HP:0007378	Neoplasm of the gastrointestinal tract	3767	KCNJ11	ORPHA:552
HP:0007378	Neoplasm of the gastrointestinal tract	8462	KLF11	ORPHA:552
HP:0007378	Neoplasm of the gastrointestinal tract	2645	GCK	ORPHA:552
HP:0007378	Neoplasm of the gastrointestinal tract	26060	APPL1	ORPHA:552
HP:0007378	Neoplasm of the gastrointestinal tract	640	BLK	ORPHA:552
HP:0007378	Neoplasm of the gastrointestinal tract	1056	CEL	ORPHA:552
HP:0007378	Neoplasm of the gastrointestinal tract	4760	NEUROD1	ORPHA:552
HP:0007378	Neoplasm of the gastrointestinal tract	3651	PDX1	ORPHA:552
HP:0007378	Neoplasm of the gastrointestinal tract	6833	ABCC8	ORPHA:552
HP:0007378	Neoplasm of the gastrointestinal tract	5078	PAX4	ORPHA:552
HP:0007378	Neoplasm of the gastrointestinal tract	3172	HNF4A	ORPHA:552
HP:0007378	Neoplasm of the gastrointestinal tract	6927	HNF1A	ORPHA:552
HP:0007378	Neoplasm of the gastrointestinal tract	6927	HNF1A	OMIM:142330
HP:0007378	Neoplasm of the gastrointestinal tract	3630	INS	ORPHA:552
HP:0007378	Neoplasm of the gastrointestinal tract	7543	ZFX	OMIM:301118
HP:0007378	Neoplasm of the gastrointestinal tract	5256	PHKA2	ORPHA:264580
HP:0007378	Neoplasm of the gastrointestinal tract	5261	PHKG2	ORPHA:264580
HP:0007378	Neoplasm of the gastrointestinal tract	999	CDH1	OMIM:137215
HP:0007378	Neoplasm of the gastrointestinal tract	3553	IL1B	OMIM:613659
HP:0007378	Neoplasm of the gastrointestinal tract	2064	ERBB2	OMIM:613659
HP:0007378	Neoplasm of the gastrointestinal tract	3557	IL1RN	OMIM:613659
HP:0007378	Neoplasm of the gastrointestinal tract	3659	IRF1	OMIM:613659
HP:0007378	Neoplasm of the gastrointestinal tract	2263	FGFR2	OMIM:613659
HP:0007378	Neoplasm of the gastrointestinal tract	1316	KLF6	OMIM:613659
HP:0007378	Neoplasm of the gastrointestinal tract	5892	RAD51D	ORPHA:145
HP:0007378	Neoplasm of the gastrointestinal tract	5728	PTEN	ORPHA:145
HP:0007378	Neoplasm of the gastrointestinal tract	10111	RAD50	ORPHA:145
HP:0007378	Neoplasm of the gastrointestinal tract	580	BARD1	ORPHA:145
HP:0007378	Neoplasm of the gastrointestinal tract	5888	RAD51	ORPHA:145
HP:0007378	Neoplasm of the gastrointestinal tract	4683	NBN	ORPHA:145
HP:0007378	Neoplasm of the gastrointestinal tract	5889	RAD51C	ORPHA:145
HP:0007378	Neoplasm of the gastrointestinal tract	83990	BRIP1	ORPHA:145
HP:0007378	Neoplasm of the gastrointestinal tract	4361	MRE11	ORPHA:145
HP:0007378	Neoplasm of the gastrointestinal tract	56983	POGLUT1	ORPHA:79145
HP:0007378	Neoplasm of the gastrointestinal tract	3852	KRT5	ORPHA:79145
HP:0007378	Neoplasm of the gastrointestinal tract	23509	POFUT1	ORPHA:79145
HP:0007378	Neoplasm of the gastrointestinal tract	55851	PSENEN	ORPHA:79145
HP:0007378	Neoplasm of the gastrointestinal tract	1387	CREBBP	OMIM:180849
HP:0007378	Neoplasm of the gastrointestinal tract	7428	VHL	OMIM:193300
HP:0007378	Neoplasm of the gastrointestinal tract	6138	RPL15	ORPHA:124
HP:0007378	Neoplasm of the gastrointestinal tract	6165	RPL35A	ORPHA:124
HP:0007378	Neoplasm of the gastrointestinal tract	6132	RPL8	ORPHA:124
HP:0007378	Neoplasm of the gastrointestinal tract	6223	RPS19	ORPHA:124
HP:0007378	Neoplasm of the gastrointestinal tract	6232	RPS27	ORPHA:124
HP:0007378	Neoplasm of the gastrointestinal tract	55027	HEATR3	ORPHA:124
HP:0007378	Neoplasm of the gastrointestinal tract	6160	RPL31	ORPHA:124
HP:0007378	Neoplasm of the gastrointestinal tract	6201	RPS7	ORPHA:124
HP:0007378	Neoplasm of the gastrointestinal tract	6155	RPL27	ORPHA:124
HP:0007378	Neoplasm of the gastrointestinal tract	6234	RPS28	ORPHA:124
HP:0007378	Neoplasm of the gastrointestinal tract	6135	RPL11	ORPHA:124
HP:0007378	Neoplasm of the gastrointestinal tract	6229	RPS24	ORPHA:124
HP:0007378	Neoplasm of the gastrointestinal tract	6125	RPL5	ORPHA:124
HP:0007378	Neoplasm of the gastrointestinal tract	6204	RPS10	ORPHA:124
HP:0007378	Neoplasm of the gastrointestinal tract	2623	GATA1	ORPHA:124
HP:0007378	Neoplasm of the gastrointestinal tract	6133	RPL9	ORPHA:124
HP:0007378	Neoplasm of the gastrointestinal tract	6231	RPS26	ORPHA:124
HP:0007378	Neoplasm of the gastrointestinal tract	11224	RPL35	ORPHA:124
HP:0007378	Neoplasm of the gastrointestinal tract	6218	RPS17	ORPHA:124
HP:0007378	Neoplasm of the gastrointestinal tract	6154	RPL26	ORPHA:124
HP:0007378	Neoplasm of the gastrointestinal tract	6210	RPS15A	ORPHA:124
HP:0007378	Neoplasm of the gastrointestinal tract	90121	TSR2	ORPHA:124
HP:0007378	Neoplasm of the gastrointestinal tract	6141	RPL18	ORPHA:124
HP:0007378	Neoplasm of the gastrointestinal tract	6235	RPS29	ORPHA:124
HP:0007378	Neoplasm of the gastrointestinal tract	51816	ADA2	ORPHA:124
HP:0007378	Neoplasm of the gastrointestinal tract	8379	MAD1L1	OMIM:620189
HP:0007378	Neoplasm of the gastrointestinal tract	8915	BCL10	OMIM:137245
HP:0007378	Neoplasm of the gastrointestinal tract	4595	MUTYH	ORPHA:247798
HP:0007378	Neoplasm of the gastrointestinal tract	161742	SPRED1	ORPHA:137605
HP:0007378	Neoplasm of the gastrointestinal tract	5774	PTPN3	ORPHA:70567
HP:0007378	Neoplasm of the gastrointestinal tract	6098	ROS1	ORPHA:70567
HP:0007378	Neoplasm of the gastrointestinal tract	6794	STK11	ORPHA:2869
HP:0007378	Neoplasm of the gastrointestinal tract	54894	RNF43	ORPHA:157798
HP:0007378	Neoplasm of the gastrointestinal tract	410	ARSA	ORPHA:309271
HP:0007378	Neoplasm of the gastrointestinal tract	5660	PSAP	ORPHA:309271
HP:0007378	Neoplasm of the gastrointestinal tract	5885	RAD21	OMIM:611376
HP:0007378	Neoplasm of the gastrointestinal tract	4629	MYH11	OMIM:619350
HP:0007378	Neoplasm of the gastrointestinal tract	23495	TNFRSF13B	ORPHA:1572
HP:0007378	Neoplasm of the gastrointestinal tract	4790	NFKB1	ORPHA:1572
HP:0007378	Neoplasm of the gastrointestinal tract	4791	NFKB2	ORPHA:1572
HP:0007378	Neoplasm of the gastrointestinal tract	115650	TNFRSF13C	ORPHA:1572
HP:0007378	Neoplasm of the gastrointestinal tract	1380	CR2	ORPHA:1572
HP:0007378	Neoplasm of the gastrointestinal tract	8742	TNFSF12	ORPHA:1572
HP:0007378	Neoplasm of the gastrointestinal tract	930	CD19	ORPHA:1572
HP:0007378	Neoplasm of the gastrointestinal tract	29851	ICOS	ORPHA:1572
HP:0007378	Neoplasm of the gastrointestinal tract	931	MS4A1	ORPHA:1572
HP:0007378	Neoplasm of the gastrointestinal tract	975	CD81	ORPHA:1572
HP:0007378	Neoplasm of the gastrointestinal tract	359948	IRF2BP2	ORPHA:1572
HP:0007378	Neoplasm of the gastrointestinal tract	4763	NF1	ORPHA:97685
HP:0007378	Neoplasm of the gastrointestinal tract	4913	NTHL1	ORPHA:454840
HP:0007378	Neoplasm of the gastrointestinal tract	641	BLM	ORPHA:125
HP:0007378	Neoplasm of the gastrointestinal tract	79651	RHBDF2	ORPHA:2198
HP:0007378	Neoplasm of the gastrointestinal tract	2271	FH	ORPHA:523
HP:0007378	Neoplasm of the gastrointestinal tract	1288	COL4A6	ORPHA:1018
HP:0007378	Neoplasm of the gastrointestinal tract	1287	COL4A5	ORPHA:1018
HP:0007378	Neoplasm of the gastrointestinal tract	7373	COL14A1	ORPHA:79501
HP:0007378	Neoplasm of the gastrointestinal tract	79719	AAGAB	ORPHA:79501
HP:0007378	Neoplasm of the gastrointestinal tract	4000	LMNA	ORPHA:79474
HP:0007378	Neoplasm of the gastrointestinal tract	7486	WRN	ORPHA:902
HP:0007378	Neoplasm of the gastrointestinal tract	2658	GDF2	ORPHA:774
HP:0007378	Neoplasm of the gastrointestinal tract	94	ACVRL1	ORPHA:774
HP:0007378	Neoplasm of the gastrointestinal tract	2022	ENG	ORPHA:774
HP:0007378	Neoplasm of the gastrointestinal tract	9184	BUB3	ORPHA:1052
HP:0007378	Neoplasm of the gastrointestinal tract	9702	CEP57	ORPHA:1052
HP:0007378	Neoplasm of the gastrointestinal tract	220296	HEPACAM	ORPHA:210548
HP:0007378	Neoplasm of the gastrointestinal tract	9817	KEAP1	ORPHA:276399
HP:0007378	Neoplasm of the gastrointestinal tract	23405	DICER1	ORPHA:276399
HP:0007379	Neoplasm of the genitourinary tract	4771	NF2	ORPHA:93921
HP:0007379	Neoplasm of the genitourinary tract	6598	SMARCB1	ORPHA:93921
HP:0007379	Neoplasm of the genitourinary tract	51004	COQ6	ORPHA:93921
HP:0007379	Neoplasm of the genitourinary tract	8216	LZTR1	ORPHA:93921
HP:0007379	Neoplasm of the genitourinary tract	4437	MSH3	ORPHA:480536
HP:0007379	Neoplasm of the genitourinary tract	4437	MSH3	OMIM:617100
HP:0007379	Neoplasm of the genitourinary tract	11281	POU6F2	OMIM:601583
HP:0007379	Neoplasm of the genitourinary tract	11281	POU6F2	ORPHA:654
HP:0007379	Neoplasm of the genitourinary tract	716	C1S	OMIM:617174
HP:0007379	Neoplasm of the genitourinary tract	9158	FIBP	ORPHA:500095
HP:0007379	Neoplasm of the genitourinary tract	9158	FIBP	OMIM:617107
HP:0007379	Neoplasm of the genitourinary tract	9759	HDAC4	ORPHA:1001
HP:0007379	Neoplasm of the genitourinary tract	5978	REST	OMIM:616806
HP:0007379	Neoplasm of the genitourinary tract	5978	REST	ORPHA:654
HP:0007379	Neoplasm of the genitourinary tract	2132	EXT2	ORPHA:52022
HP:0007379	Neoplasm of the genitourinary tract	60529	ALX4	ORPHA:52022
HP:0007379	Neoplasm of the genitourinary tract	51317	PHF21A	ORPHA:52022
HP:0007379	Neoplasm of the genitourinary tract	10155	TRIM28	ORPHA:654
HP:0007379	Neoplasm of the genitourinary tract	2719	GPC3	ORPHA:654
HP:0007379	Neoplasm of the genitourinary tract	2719	GPC3	ORPHA:373
HP:0007379	Neoplasm of the genitourinary tract	2719	GPC3	OMIM:312870
HP:0007379	Neoplasm of the genitourinary tract	2719	GPC3	OMIM:194070
HP:0007379	Neoplasm of the genitourinary tract	283120	H19	ORPHA:654
HP:0007379	Neoplasm of the genitourinary tract	283120	H19	ORPHA:2128
HP:0007379	Neoplasm of the genitourinary tract	283120	H19	OMIM:194070
HP:0007379	Neoplasm of the genitourinary tract	3481	IGF2	ORPHA:2128
HP:0007379	Neoplasm of the genitourinary tract	3481	IGF2	OMIM:130650
HP:0007379	Neoplasm of the genitourinary tract	3481	IGF2	OMIM:180860
HP:0007379	Neoplasm of the genitourinary tract	3481	IGF2	OMIM:194070
HP:0007379	Neoplasm of the genitourinary tract	10984	KCNQ1OT1	ORPHA:2128
HP:0007379	Neoplasm of the genitourinary tract	10984	KCNQ1OT1	OMIM:130650
HP:0007379	Neoplasm of the genitourinary tract	2239	GPC4	ORPHA:373
HP:0007379	Neoplasm of the genitourinary tract	2239	GPC4	OMIM:312870
HP:0007379	Neoplasm of the genitourinary tract	2239	GPC4	OMIM:194070
HP:0007379	Neoplasm of the genitourinary tract	1028	CDKN1C	OMIM:130650
HP:0007379	Neoplasm of the genitourinary tract	3784	KCNQ1	OMIM:130650
HP:0007379	Neoplasm of the genitourinary tract	5727	PTCH1	ORPHA:77301
HP:0007379	Neoplasm of the genitourinary tract	171023	ASXL1	ORPHA:97297
HP:0007379	Neoplasm of the genitourinary tract	4591	TRIM37	OMIM:253250
HP:0007379	Neoplasm of the genitourinary tract	6662	SOX9	ORPHA:251510
HP:0007379	Neoplasm of the genitourinary tract	6845	VAMP7	ORPHA:251510
HP:0007379	Neoplasm of the genitourinary tract	51741	WWOX	ORPHA:251510
HP:0007379	Neoplasm of the genitourinary tract	4214	MAP3K1	ORPHA:251510
HP:0007379	Neoplasm of the genitourinary tract	2516	NR5A1	ORPHA:251510
HP:0007379	Neoplasm of the genitourinary tract	57647	DHX37	ORPHA:251510
HP:0007379	Neoplasm of the genitourinary tract	23414	ZFPM2	ORPHA:251510
HP:0007379	Neoplasm of the genitourinary tract	190	NR0B1	ORPHA:251510
HP:0007379	Neoplasm of the genitourinary tract	2626	GATA4	ORPHA:251510
HP:0007379	Neoplasm of the genitourinary tract	5080	PAX6	OMIM:194072
HP:0007379	Neoplasm of the genitourinary tract	26040	SETBP1	ORPHA:798
HP:0007379	Neoplasm of the genitourinary tract	538	ATP7A	OMIM:304150
HP:0007379	Neoplasm of the genitourinary tract	54894	RNF43	ORPHA:157798
HP:0007379	Neoplasm of the genitourinary tract	56980	PRDM10	ORPHA:122
HP:0007379	Neoplasm of the genitourinary tract	7428	VHL	ORPHA:892
HP:0007379	Neoplasm of the genitourinary tract	7428	VHL	ORPHA:29072
HP:0007379	Neoplasm of the genitourinary tract	7428	VHL	OMIM:193300
HP:0007379	Neoplasm of the genitourinary tract	7428	VHL	OMIM:144700
HP:0007379	Neoplasm of the genitourinary tract	595	CCND1	ORPHA:892
HP:0007379	Neoplasm of the genitourinary tract	595	CCND1	OMIM:114500
HP:0007379	Neoplasm of the genitourinary tract	595	CCND1	OMIM:193300
HP:0007379	Neoplasm of the genitourinary tract	699	BUB1	OMIM:114500
HP:0007379	Neoplasm of the genitourinary tract	581	BAX	OMIM:114500
HP:0007379	Neoplasm of the genitourinary tract	25788	RAD54B	OMIM:114500
HP:0007379	Neoplasm of the genitourinary tract	5795	PTPRJ	OMIM:114500
HP:0007379	Neoplasm of the genitourinary tract	5157	PDGFRL	OMIM:114500
HP:0007379	Neoplasm of the genitourinary tract	1630	DCC	OMIM:114500
HP:0007379	Neoplasm of the genitourinary tract	207	AKT1	OMIM:114500
HP:0007379	Neoplasm of the genitourinary tract	207	AKT1	ORPHA:201
HP:0007379	Neoplasm of the genitourinary tract	673	BRAF	OMIM:114500
HP:0007379	Neoplasm of the genitourinary tract	10395	DLC1	OMIM:114500
HP:0007379	Neoplasm of the genitourinary tract	8313	AXIN2	OMIM:114500
HP:0007379	Neoplasm of the genitourinary tract	4163	MCC	OMIM:114500
HP:0007379	Neoplasm of the genitourinary tract	7097	TLR2	OMIM:114500
HP:0007379	Neoplasm of the genitourinary tract	6714	SRC	OMIM:114500
HP:0007379	Neoplasm of the genitourinary tract	2033	EP300	OMIM:114500
HP:0007379	Neoplasm of the genitourinary tract	27030	MLH3	OMIM:114500
HP:0007379	Neoplasm of the genitourinary tract	5320	PLA2G2A	OMIM:114500
HP:0007379	Neoplasm of the genitourinary tract	1499	CTNNB1	OMIM:114500
HP:0007379	Neoplasm of the genitourinary tract	6790	AURKA	OMIM:114500
HP:0007379	Neoplasm of the genitourinary tract	4893	NRAS	OMIM:114500
HP:0007379	Neoplasm of the genitourinary tract	324	APC	OMIM:114500
HP:0007379	Neoplasm of the genitourinary tract	701	BUB1B	OMIM:114500
HP:0007379	Neoplasm of the genitourinary tract	5782	PTPN12	OMIM:114500
HP:0007379	Neoplasm of the genitourinary tract	10483	SEC23B	ORPHA:201
HP:0007379	Neoplasm of the genitourinary tract	5728	PTEN	ORPHA:201
HP:0007379	Neoplasm of the genitourinary tract	6390	SDHB	ORPHA:201
HP:0007379	Neoplasm of the genitourinary tract	6390	SDHB	OMIM:115310
HP:0007379	Neoplasm of the genitourinary tract	6390	SDHB	ORPHA:29072
HP:0007379	Neoplasm of the genitourinary tract	6392	SDHD	ORPHA:201
HP:0007379	Neoplasm of the genitourinary tract	6392	SDHD	ORPHA:29072
HP:0007379	Neoplasm of the genitourinary tract	6391	SDHC	ORPHA:201
HP:0007379	Neoplasm of the genitourinary tract	6391	SDHC	ORPHA:29072
HP:0007379	Neoplasm of the genitourinary tract	205717	USF3	ORPHA:201
HP:0007379	Neoplasm of the genitourinary tract	7030	TFE3	OMIM:300854
HP:0007379	Neoplasm of the genitourinary tract	3458	IFNG	OMIM:613254
HP:0007379	Neoplasm of the genitourinary tract	3458	IFNG	ORPHA:805
HP:0007379	Neoplasm of the genitourinary tract	79798	ARMC5	ORPHA:189427
HP:0007379	Neoplasm of the genitourinary tract	23028	KDM1A	ORPHA:189427
HP:0007379	Neoplasm of the genitourinary tract	2778	GNAS	ORPHA:189427
HP:0007379	Neoplasm of the genitourinary tract	2271	FH	OMIM:150800
HP:0007379	Neoplasm of the genitourinary tract	2271	FH	ORPHA:29072
HP:0007379	Neoplasm of the genitourinary tract	8314	BAP1	OMIM:614327
HP:0007379	Neoplasm of the genitourinary tract	1743	DLST	ORPHA:29072
HP:0007379	Neoplasm of the genitourinary tract	4191	MDH2	ORPHA:29072
HP:0007379	Neoplasm of the genitourinary tract	5979	RET	ORPHA:29072
HP:0007379	Neoplasm of the genitourinary tract	6389	SDHA	ORPHA:29072
HP:0007379	Neoplasm of the genitourinary tract	23095	KIF1B	ORPHA:29072
HP:0007379	Neoplasm of the genitourinary tract	8402	SLC25A11	ORPHA:29072
HP:0007379	Neoplasm of the genitourinary tract	54949	SDHAF2	ORPHA:29072
HP:0007379	Neoplasm of the genitourinary tract	55654	TMEM127	ORPHA:29072
HP:0007379	Neoplasm of the genitourinary tract	4763	NF1	ORPHA:29072
HP:0007379	Neoplasm of the genitourinary tract	4149	MAX	ORPHA:29072
HP:0007379	Neoplasm of the genitourinary tract	55193	PBRM1	OMIM:144700
HP:0007379	Neoplasm of the genitourinary tract	6927	HNF1A	OMIM:144700
HP:0007379	Neoplasm of the genitourinary tract	4968	OGG1	OMIM:144700
HP:0007379	Neoplasm of the genitourinary tract	11236	RNF139	OMIM:144700
HP:0007379	Neoplasm of the genitourinary tract	6928	HNF1B	OMIM:144700
HP:0007379	Neoplasm of the genitourinary tract	6928	HNF1B	ORPHA:93111
HP:0007379	Neoplasm of the genitourinary tract	9817	KEAP1	ORPHA:276399
HP:0007379	Neoplasm of the genitourinary tract	23405	DICER1	ORPHA:276399
HP:0007379	Neoplasm of the genitourinary tract	7373	COL14A1	ORPHA:79501
HP:0007379	Neoplasm of the genitourinary tract	79719	AAGAB	ORPHA:79501
HP:0007379	Neoplasm of the genitourinary tract	79577	CDC73	OMIM:145001
HP:0007379	Neoplasm of the genitourinary tract	4292	MLH1	OMIM:158320
HP:0007379	Neoplasm of the genitourinary tract	4292	MLH1	ORPHA:144
HP:0007379	Neoplasm of the genitourinary tract	4436	MSH2	OMIM:158320
HP:0007379	Neoplasm of the genitourinary tract	4436	MSH2	ORPHA:144
HP:0007379	Neoplasm of the genitourinary tract	4072	EPCAM	ORPHA:144
HP:0007379	Neoplasm of the genitourinary tract	5395	PMS2	ORPHA:144
HP:0007379	Neoplasm of the genitourinary tract	7048	TGFBR2	ORPHA:144
HP:0007379	Neoplasm of the genitourinary tract	3845	KRAS	ORPHA:144
HP:0007379	Neoplasm of the genitourinary tract	5290	PIK3CA	ORPHA:144
HP:0007379	Neoplasm of the genitourinary tract	2956	MSH6	ORPHA:144
HP:0007379	Neoplasm of the genitourinary tract	5378	PMS1	ORPHA:144
HP:0007379	Neoplasm of the genitourinary tract	641	BLM	ORPHA:125
HP:0007379	Neoplasm of the genitourinary tract	6138	RPL15	ORPHA:124
HP:0007379	Neoplasm of the genitourinary tract	6224	RPS20	ORPHA:124
HP:0007379	Neoplasm of the genitourinary tract	6165	RPL35A	ORPHA:124
HP:0007379	Neoplasm of the genitourinary tract	6132	RPL8	ORPHA:124
HP:0007379	Neoplasm of the genitourinary tract	6223	RPS19	ORPHA:124
HP:0007379	Neoplasm of the genitourinary tract	6232	RPS27	ORPHA:124
HP:0007379	Neoplasm of the genitourinary tract	55027	HEATR3	ORPHA:124
HP:0007379	Neoplasm of the genitourinary tract	6160	RPL31	ORPHA:124
HP:0007379	Neoplasm of the genitourinary tract	6201	RPS7	ORPHA:124
HP:0007379	Neoplasm of the genitourinary tract	6155	RPL27	ORPHA:124
HP:0007379	Neoplasm of the genitourinary tract	6234	RPS28	ORPHA:124
HP:0007379	Neoplasm of the genitourinary tract	6135	RPL11	ORPHA:124
HP:0007379	Neoplasm of the genitourinary tract	6229	RPS24	ORPHA:124
HP:0007379	Neoplasm of the genitourinary tract	6125	RPL5	ORPHA:124
HP:0007379	Neoplasm of the genitourinary tract	6204	RPS10	ORPHA:124
HP:0007379	Neoplasm of the genitourinary tract	2623	GATA1	ORPHA:124
HP:0007379	Neoplasm of the genitourinary tract	6133	RPL9	ORPHA:124
HP:0007379	Neoplasm of the genitourinary tract	6231	RPS26	ORPHA:124
HP:0007379	Neoplasm of the genitourinary tract	11224	RPL35	ORPHA:124
HP:0007379	Neoplasm of the genitourinary tract	6218	RPS17	ORPHA:124
HP:0007379	Neoplasm of the genitourinary tract	6154	RPL26	ORPHA:124
HP:0007379	Neoplasm of the genitourinary tract	6210	RPS15A	ORPHA:124
HP:0007379	Neoplasm of the genitourinary tract	90121	TSR2	ORPHA:124
HP:0007379	Neoplasm of the genitourinary tract	6141	RPL18	ORPHA:124
HP:0007379	Neoplasm of the genitourinary tract	6235	RPS29	ORPHA:124
HP:0007379	Neoplasm of the genitourinary tract	51816	ADA2	ORPHA:124
HP:0007379	Neoplasm of the genitourinary tract	3026	HABP2	ORPHA:319487
HP:0007379	Neoplasm of the genitourinary tract	9562	MINPP1	ORPHA:319487
HP:0007379	Neoplasm of the genitourinary tract	4233	MET	OMIM:605074
HP:0007379	Neoplasm of the genitourinary tract	5546	PRCC	OMIM:605074
HP:0007379	Neoplasm of the genitourinary tract	64127	NOD2	ORPHA:90340
HP:0007379	Neoplasm of the genitourinary tract	4598	MVK	OMIM:260920
HP:0007379	Neoplasm of the genitourinary tract	2064	ERBB2	OMIM:167000
HP:0007379	Neoplasm of the genitourinary tract	999	CDH1	OMIM:167000
HP:0007379	Neoplasm of the genitourinary tract	4978	OPCML	OMIM:167000
HP:0007379	Neoplasm of the genitourinary tract	5071	PRKN	OMIM:167000
HP:0007379	Neoplasm of the genitourinary tract	168667	BMPER	OMIM:608022
HP:0007379	Neoplasm of the genitourinary tract	129563	DIS3L2	OMIM:267000
HP:0007379	Neoplasm of the genitourinary tract	1387	CREBBP	OMIM:180849
HP:0007379	Neoplasm of the genitourinary tract	4913	NTHL1	OMIM:616415
HP:0007379	Neoplasm of the genitourinary tract	4913	NTHL1	ORPHA:454840
HP:0007379	Neoplasm of the genitourinary tract	5925	RB1	OMIM:109800
HP:0007379	Neoplasm of the genitourinary tract	2261	FGFR3	OMIM:109800
HP:0007379	Neoplasm of the genitourinary tract	3265	HRAS	OMIM:109800
HP:0007379	Neoplasm of the genitourinary tract	126792	B3GALT6	ORPHA:536467
HP:0007379	Neoplasm of the genitourinary tract	201163	FLCN	OMIM:135150
HP:0007379	Neoplasm of the genitourinary tract	100144748	KLLN	OMIM:615107
HP:0007379	Neoplasm of the genitourinary tract	7248	TSC1	ORPHA:538
HP:0007379	Neoplasm of the genitourinary tract	7249	TSC2	ORPHA:538
HP:0007379	Neoplasm of the genitourinary tract	4000	LMNA	ORPHA:79474
HP:0007379	Neoplasm of the genitourinary tract	7486	WRN	ORPHA:902
HP:0007379	Neoplasm of the genitourinary tract	7157	TP53	ORPHA:524
HP:0007379	Neoplasm of the genitourinary tract	1029	CDKN2A	ORPHA:524
HP:0007379	Neoplasm of the genitourinary tract	4193	MDM2	ORPHA:524
HP:0007379	Neoplasm of the genitourinary tract	8915	BCL10	OMIM:273300
HP:0007379	Neoplasm of the genitourinary tract	3815	KIT	OMIM:273300
HP:0007379	Neoplasm of the genitourinary tract	8643	PTCH2	ORPHA:377
HP:0007379	Neoplasm of the genitourinary tract	51684	SUFU	ORPHA:377
HP:0007379	Neoplasm of the genitourinary tract	1288	COL4A6	ORPHA:1018
HP:0007379	Neoplasm of the genitourinary tract	1287	COL4A5	ORPHA:1018
HP:0007379	Neoplasm of the genitourinary tract	5573	PRKAR1A	ORPHA:1359
HP:0007379	Neoplasm of the genitourinary tract	50940	PDE11A	ORPHA:1359
HP:0007379	Neoplasm of the genitourinary tract	64218	SEMA4A	ORPHA:440437
HP:0007379	Neoplasm of the genitourinary tract	472	ATM	ORPHA:440437
HP:0007379	Neoplasm of the genitourinary tract	5426	POLE	ORPHA:440437
HP:0007379	Neoplasm of the genitourinary tract	675	BRCA2	ORPHA:440437
HP:0007379	Neoplasm of the genitourinary tract	657	BMPR1A	ORPHA:440437
HP:0007379	Neoplasm of the genitourinary tract	4595	MUTYH	ORPHA:440437
HP:0007379	Neoplasm of the genitourinary tract	5424	POLD1	ORPHA:440437
HP:0007379	Neoplasm of the genitourinary tract	11200	CHEK2	ORPHA:440437
HP:0007379	Neoplasm of the genitourinary tract	4665	NAB2	ORPHA:2126
HP:0007379	Neoplasm of the genitourinary tract	6778	STAT6	ORPHA:2126
HP:0007379	Neoplasm of the genitourinary tract	284058	KANSL1	ORPHA:363965
HP:0007379	Neoplasm of the genitourinary tract	284058	KANSL1	ORPHA:363958
HP:0007379	Neoplasm of the genitourinary tract	2130	EWSR1	ORPHA:83469
HP:0007379	Neoplasm of the genitourinary tract	7490	WT1	ORPHA:83469
HP:0007379	Neoplasm of the genitourinary tract	412	STS	OMIM:308100
HP:0007379	Neoplasm of the genitourinary tract	367	AR	ORPHA:99429
HP:0007379	Neoplasm of the genitourinary tract	388662	SLC6A17	ORPHA:457212
HP:0007379	Neoplasm of the genitourinary tract	2048	EPHB2	OMIM:603688
HP:0007379	Neoplasm of the genitourinary tract	463	ZFHX3	OMIM:176807
HP:0007379	Neoplasm of the genitourinary tract	4601	MXI1	OMIM:176807
HP:0007379	Neoplasm of the genitourinary tract	1316	KLF6	OMIM:176807
HP:0007379	Neoplasm of the genitourinary tract	6041	RNASEL	OMIM:601518
HP:0007379	Neoplasm of the genitourinary tract	26585	GREM1	ORPHA:157794
HP:0007379	Neoplasm of the genitourinary tract	285282	RABL3	ORPHA:1333
HP:0007379	Neoplasm of the genitourinary tract	4089	SMAD4	ORPHA:1333
HP:0007379	Neoplasm of the genitourinary tract	23022	PALLD	ORPHA:1333
HP:0007379	Neoplasm of the genitourinary tract	56246	MRAP	ORPHA:361
HP:0007379	Neoplasm of the genitourinary tract	6770	STAR	ORPHA:361
HP:0007379	Neoplasm of the genitourinary tract	4158	MC2R	ORPHA:361
HP:0007379	Neoplasm of the genitourinary tract	23530	NNT	ORPHA:361
HP:0007379	Neoplasm of the genitourinary tract	10587	TXNRD2	ORPHA:361
HP:0007379	Neoplasm of the genitourinary tract	1584	CYP11B1	ORPHA:90795
HP:0007379	Neoplasm of the genitourinary tract	6736	SRY	ORPHA:1772
HP:0007379	Neoplasm of the genitourinary tract	6794	STK11	ORPHA:2869
HP:0007379	Neoplasm of the genitourinary tract	7852	CXCR4	ORPHA:51636
HP:0007379	Neoplasm of the genitourinary tract	8379	MAD1L1	OMIM:620189
HP:0007379	Neoplasm of the genitourinary tract	1027	CDKN1B	ORPHA:276152
HP:0007379	Neoplasm of the genitourinary tract	81704	DOCK8	ORPHA:217390
HP:0007379	Neoplasm of the genitourinary tract	3110	MNX1	ORPHA:1552
HP:0007379	Neoplasm of the genitourinary tract	64324	NSD1	ORPHA:821
HP:0007379	Neoplasm of the genitourinary tract	10297	APC2	ORPHA:821
HP:0007379	Neoplasm of the genitourinary tract	8930	MBD4	OMIM:619975
HP:0007379	Neoplasm of the genitourinary tract	2624	GATA2	OMIM:614172
HP:0007379	Neoplasm of the genitourinary tract	6597	SMARCA4	OMIM:613325
HP:0007379	Neoplasm of the genitourinary tract	55612	FERMT1	ORPHA:2908
HP:0007379	Neoplasm of the genitourinary tract	672	BRCA1	OMIM:604370
HP:0007379	Neoplasm of the genitourinary tract	672	BRCA1	ORPHA:145
HP:0007379	Neoplasm of the genitourinary tract	672	BRCA1	OMIM:617883
HP:0007379	Neoplasm of the genitourinary tract	5892	RAD51D	ORPHA:145
HP:0007379	Neoplasm of the genitourinary tract	10111	RAD50	ORPHA:145
HP:0007379	Neoplasm of the genitourinary tract	580	BARD1	ORPHA:145
HP:0007379	Neoplasm of the genitourinary tract	5888	RAD51	ORPHA:145
HP:0007379	Neoplasm of the genitourinary tract	4683	NBN	ORPHA:145
HP:0007379	Neoplasm of the genitourinary tract	5889	RAD51C	ORPHA:145
HP:0007379	Neoplasm of the genitourinary tract	83990	BRIP1	ORPHA:145
HP:0007379	Neoplasm of the genitourinary tract	4361	MRE11	ORPHA:145
HP:0007379	Neoplasm of the genitourinary tract	79728	PALB2	ORPHA:145
HP:0007379	Neoplasm of the genitourinary tract	80326	WNT10A	ORPHA:50944
HP:0007379	Neoplasm of the genitourinary tract	2304	FOXE1	OMIM:616534
HP:0007379	Neoplasm of the genitourinary tract	65998	ZFTA	ORPHA:251636
HP:0007379	Neoplasm of the genitourinary tract	3418	IDH2	ORPHA:163634
HP:0007379	Neoplasm of the genitourinary tract	3417	IDH1	ORPHA:163634
HP:0007379	Neoplasm of the genitourinary tract	10734	STAG3	OMIM:615723
HP:0007379	Neoplasm of the genitourinary tract	161742	SPRED1	ORPHA:137605
HP:0007379	Neoplasm of the genitourinary tract	2313	FLI1	ORPHA:370348
HP:0007379	Neoplasm of the genitourinary tract	2263	FGFR2	OMIM:123500
HP:0007379	Neoplasm of the genitourinary tract	50846	DHH	OMIM:233420
HP:0007379	Neoplasm of the genitourinary tract	9184	BUB3	ORPHA:1052
HP:0007379	Neoplasm of the genitourinary tract	9702	CEP57	ORPHA:1052
HP:0007379	Neoplasm of the genitourinary tract	9319	TRIP13	ORPHA:1052
HP:0030216	Inertia	57338	JPH3	OMIM:606438
HP:0030216	Inertia	80025	PANK2	ORPHA:216873
HP:0030216	Inertia	2332	FMR1	ORPHA:93256
HP:0030216	Inertia	6310	ATXN1	ORPHA:98755
HP:0030216	Inertia	5575	PRKAR1B	ORPHA:412066
HP:0030215	Inappropriate crying	79796	ALG9	ORPHA:79328
HP:0030215	Inappropriate crying	23096	IQSEC2	ORPHA:397933
HP:0030215	Inappropriate crying	6792	CDKL5	ORPHA:3095
HP:0030215	Inappropriate crying	22854	NTNG1	ORPHA:3095
HP:0030215	Inappropriate crying	9568	GABBR2	ORPHA:3095
HP:0030215	Inappropriate crying	9568	GABBR2	OMIM:617903
HP:0030215	Inappropriate crying	4204	MECP2	ORPHA:3095
HP:0030215	Inappropriate crying	8243	SMC1A	ORPHA:3095
HP:0030215	Inappropriate crying	29968	PSAT1	ORPHA:284417
HP:0030215	Inappropriate crying	56992	KIF15	ORPHA:261323
HP:0030215	Inappropriate crying	80704	SLC19A3	ORPHA:263410
HP:0030215	Inappropriate crying	23102	TBC1D2B	OMIM:619323
HP:0030215	Inappropriate crying	94005	PIGS	OMIM:618143
HP:0030215	Inappropriate crying	54914	FOCAD	OMIM:619991
HP:0030215	Inappropriate crying	2290	FOXG1	OMIM:613454
HP:0030215	Inappropriate crying	26227	PHGDH	ORPHA:79351
HP:0030215	Inappropriate crying	2581	GALC	ORPHA:206436
HP:0030215	Inappropriate crying	5660	PSAP	ORPHA:206436
HP:0030215	Inappropriate crying	6571	SLC18A2	ORPHA:352649
HP:5200321	Amplification of sexual behavior	391356	PTRHD1	OMIM:620747
HP:5200321	Amplification of sexual behavior	540	ATP7B	ORPHA:905
HP:5200321	Amplification of sexual behavior	9881	TRANK1	ORPHA:33543
HP:5200321	Amplification of sexual behavior	6999	TDO2	OMIM:600627
HP:5200321	Amplification of sexual behavior	2896	GRN	OMIM:607485
HP:0030213	Emotional dearth	25978	CHMP2B	ORPHA:275864
HP:0030213	Emotional dearth	5663	PSEN1	ORPHA:275864
HP:0030213	Emotional dearth	5663	PSEN1	OMIM:172700
HP:0030213	Emotional dearth	2896	GRN	ORPHA:275864
HP:0030213	Emotional dearth	54664	TMEM106B	ORPHA:275864
HP:0030213	Emotional dearth	8878	SQSTM1	ORPHA:275864
HP:0030213	Emotional dearth	4137	MAPT	ORPHA:275864
HP:0030213	Emotional dearth	4137	MAPT	OMIM:172700
HP:0030213	Emotional dearth	54209	TREM2	ORPHA:275864
HP:0030213	Emotional dearth	7415	VCP	ORPHA:275864
HP:0030213	Emotional dearth	1798	DPAGT1	ORPHA:86309
HP:0030212	Collectionism	25978	CHMP2B	ORPHA:275864
HP:0030212	Collectionism	5663	PSEN1	ORPHA:275864
HP:0030212	Collectionism	2896	GRN	ORPHA:275864
HP:0030212	Collectionism	54664	TMEM106B	ORPHA:275864
HP:0030212	Collectionism	8878	SQSTM1	ORPHA:275864
HP:0030212	Collectionism	4137	MAPT	ORPHA:275864
HP:0030212	Collectionism	54209	TREM2	ORPHA:275864
HP:0030212	Collectionism	7415	VCP	ORPHA:275864
HP:0030212	Collectionism	6532	SLC6A4	OMIM:164230
HP:0030212	Collectionism	3356	HTR2A	OMIM:164230
HP:0030211	Slow pupillary light response	80781	COL18A1	OMIM:267750
HP:0030211	Slow pupillary light response	4359	MPZ	OMIM:607736
HP:0030211	Slow pupillary light response	5631	PRPS1	ORPHA:423479
HP:0030211	Slow pupillary light response	3769	KCNJ13	ORPHA:65
HP:0030211	Slow pupillary light response	343035	RD3	ORPHA:65
HP:0030211	Slow pupillary light response	145226	RDH12	ORPHA:65
HP:0030211	Slow pupillary light response	1406	CRX	ORPHA:65
HP:0030211	Slow pupillary light response	64802	NMNAT1	ORPHA:65
HP:0030211	Slow pupillary light response	57096	RPGRIP1	ORPHA:65
HP:0030211	Slow pupillary light response	57096	RPGRIP1	OMIM:613826
HP:0030211	Slow pupillary light response	80184	CEP290	ORPHA:65
HP:0030211	Slow pupillary light response	10383	TUBB4B	ORPHA:65
HP:0030211	Slow pupillary light response	9742	IFT140	ORPHA:65
HP:0030211	Slow pupillary light response	85015	USP45	ORPHA:65
HP:0030211	Slow pupillary light response	6121	RPE65	ORPHA:65
HP:0030211	Slow pupillary light response	23418	CRB1	ORPHA:65
HP:0030211	Slow pupillary light response	5130	PCYT1A	ORPHA:65
HP:0030211	Slow pupillary light response	9657	IQCB1	ORPHA:65
HP:0030211	Slow pupillary light response	392255	GDF6	ORPHA:65
HP:0030211	Slow pupillary light response	23746	AIPL1	ORPHA:65
HP:0030211	Slow pupillary light response	3000	GUCY2D	ORPHA:65
HP:0030211	Slow pupillary light response	9227	LRAT	ORPHA:65
HP:0030211	Slow pupillary light response	55812	SPATA7	ORPHA:65
HP:0030211	Slow pupillary light response	7287	TULP1	ORPHA:65
HP:0030211	Slow pupillary light response	7287	TULP1	OMIM:613843
HP:0030211	Slow pupillary light response	167691	LCA5	ORPHA:65
HP:0030211	Slow pupillary light response	3614	IMPDH1	ORPHA:65
HP:0030211	Slow pupillary light response	1136	CHRNA3	OMIM:191800
HP:0030211	Slow pupillary light response	9255	AIMP1	OMIM:260600
HP:0030211	Slow pupillary light response	55605	KIF21A	ORPHA:45358
HP:0030211	Slow pupillary light response	347733	TUBB2B	ORPHA:45358
HP:0030211	Slow pupillary light response	7846	TUBA1A	ORPHA:45358
HP:0030211	Slow pupillary light response	401	PHOX2A	ORPHA:45358
HP:0030211	Slow pupillary light response	10381	TUBB3	ORPHA:45358
HP:0030211	Slow pupillary light response	84570	COL25A1	ORPHA:45358
HP:0030211	Slow pupillary light response	5376	PMP22	ORPHA:90658
HP:0030211	Slow pupillary light response	8292	COLQ	ORPHA:98915
HP:0030211	Slow pupillary light response	3913	LAMB2	ORPHA:98915
HP:0030211	Slow pupillary light response	2581	GALC	ORPHA:206436
HP:0030211	Slow pupillary light response	5660	PSAP	ORPHA:206436
HP:0030211	Slow pupillary light response	1131	CHRM3	OMIM:100100
HP:0030210	Anti-muscle-specific tyrosine kinase antibody	4593	MUSK	OMIM:616325
HP:0030219	Semantic dementia	5663	PSEN1	ORPHA:1020
HP:0030219	Semantic dementia	5664	PSEN2	ORPHA:1020
HP:0030219	Semantic dementia	10452	TOMM40	ORPHA:1020
HP:0030219	Semantic dementia	351	APP	ORPHA:1020
HP:0030219	Semantic dementia	54209	TREM2	ORPHA:1020
HP:0030219	Semantic dementia	10347	ABCA7	ORPHA:1020
HP:0030219	Semantic dementia	6653	SORL1	ORPHA:1020
HP:0030218	Punding	6513	SLC2A1	ORPHA:64280
HP:0030218	Punding	2562	GABRB3	ORPHA:64280
HP:0030218	Punding	2554	GABRA1	ORPHA:64280
HP:0030218	Punding	8912	CACNA1H	ORPHA:64280
HP:0030218	Punding	8629	JRK	ORPHA:64280
HP:0030218	Punding	2566	GABRG2	ORPHA:64280
HP:0030217	Limb apraxia	4137	MAPT	ORPHA:240112
HP:0030217	Limb apraxia	4137	MAPT	ORPHA:240103
HP:0030217	Limb apraxia	4204	MECP2	ORPHA:778
HP:0007380	Facial telangiectasia	54345	SOX18	OMIM:137940
HP:0007380	Facial telangiectasia	641	BLM	OMIM:210900
HP:0007380	Facial telangiectasia	94	ACVRL1	OMIM:600376
HP:0007380	Facial telangiectasia	170302	ARX	ORPHA:94083
HP:0007380	Facial telangiectasia	55315	SLC29A3	OMIM:602782
HP:0007380	Facial telangiectasia	55315	SLC29A3	ORPHA:168569
HP:0007380	Facial telangiectasia	546	ATRX	ORPHA:100075
HP:0007380	Facial telangiectasia	80326	WNT10A	ORPHA:50944
HP:0007380	Facial telangiectasia	55275	VPS53	OMIM:615851
HP:0007380	Facial telangiectasia	545	ATR	OMIM:614564
HP:0007380	Facial telangiectasia	9675	TTI1	OMIM:620445
HP:0007380	Facial telangiectasia	6392	SDHD	ORPHA:100093
HP:0007380	Facial telangiectasia	10093	ARPC4	OMIM:620141
HP:0007380	Facial telangiectasia	79158	GNPTAB	ORPHA:576
HP:0007380	Facial telangiectasia	5426	POLE	OMIM:615139
HP:0007380	Facial telangiectasia	831	CAST	OMIM:616295
HP:0007380	Facial telangiectasia	81031	SLC2A10	OMIM:208050
HP:0007381	Congenital exfoliative erythroderma	404672	GTF2H5	ORPHA:33364
HP:0007381	Congenital exfoliative erythroderma	833	CARS1	ORPHA:33364
HP:0007381	Congenital exfoliative erythroderma	2068	ERCC2	ORPHA:33364
HP:0007381	Congenital exfoliative erythroderma	7737	RNF113A	ORPHA:33364
HP:0007381	Congenital exfoliative erythroderma	136647	MPLKIP	ORPHA:33364
HP:0007381	Congenital exfoliative erythroderma	6897	TARS1	ORPHA:33364
HP:0007381	Congenital exfoliative erythroderma	16	AARS1	ORPHA:33364
HP:0007381	Congenital exfoliative erythroderma	2071	ERCC3	ORPHA:33364
HP:0007381	Congenital exfoliative erythroderma	2961	GTF2E2	ORPHA:33364
HP:0007556	Plantar hyperkeratosis	5317	PKP1	OMIM:604536
HP:0007556	Plantar hyperkeratosis	7051	TGM1	OMIM:242300
HP:0007556	Plantar hyperkeratosis	7051	TGM1	ORPHA:100976
HP:0007556	Plantar hyperkeratosis	3858	KRT10	OMIM:607602
HP:0007556	Plantar hyperkeratosis	3858	KRT10	OMIM:620150
HP:0007556	Plantar hyperkeratosis	3858	KRT10	OMIM:609165
HP:0007556	Plantar hyperkeratosis	121214	SDR9C7	OMIM:617574
HP:0007556	Plantar hyperkeratosis	55505	NOP10	OMIM:224230
HP:0007556	Plantar hyperkeratosis	55651	NHP2	OMIM:224230
HP:0007556	Plantar hyperkeratosis	11012	KLK11	OMIM:620507
HP:0007556	Plantar hyperkeratosis	1075	CTSC	OMIM:170650
HP:0007556	Plantar hyperkeratosis	1075	CTSC	OMIM:245000
HP:0007556	Plantar hyperkeratosis	1075	CTSC	ORPHA:678
HP:0007556	Plantar hyperkeratosis	8710	SERPINB7	OMIM:615598
HP:0007556	Plantar hyperkeratosis	121391	KRT74	OMIM:194300
HP:0007556	Plantar hyperkeratosis	3868	KRT16	OMIM:167200
HP:0007556	Plantar hyperkeratosis	3868	KRT16	ORPHA:2199
HP:0007556	Plantar hyperkeratosis	3848	KRT1	OMIM:620148
HP:0007556	Plantar hyperkeratosis	3848	KRT1	OMIM:113800
HP:0007556	Plantar hyperkeratosis	3848	KRT1	ORPHA:2199
HP:0007556	Plantar hyperkeratosis	3848	KRT1	OMIM:620411
HP:0007556	Plantar hyperkeratosis	3248	HPGD	OMIM:259100
HP:0007556	Plantar hyperkeratosis	3891	KRT85	OMIM:602032
HP:0007556	Plantar hyperkeratosis	2706	GJB2	ORPHA:2698
HP:0007556	Plantar hyperkeratosis	2706	GJB2	OMIM:602540
HP:0007556	Plantar hyperkeratosis	2706	GJB2	OMIM:148350
HP:0007556	Plantar hyperkeratosis	7373	COL14A1	ORPHA:79501
HP:0007556	Plantar hyperkeratosis	79719	AAGAB	ORPHA:79501
HP:0007556	Plantar hyperkeratosis	10804	GJB6	ORPHA:189
HP:0007556	Plantar hyperkeratosis	10804	GJB6	OMIM:129500
HP:0007556	Plantar hyperkeratosis	5605	MAP2K2	OMIM:615280
HP:0007556	Plantar hyperkeratosis	5728	PTEN	OMIM:158350
HP:0007556	Plantar hyperkeratosis	57511	COG6	ORPHA:363523
HP:0007556	Plantar hyperkeratosis	57511	COG6	OMIM:615328
HP:0007556	Plantar hyperkeratosis	5159	PDGFRB	OMIM:601812
HP:0007556	Plantar hyperkeratosis	10651	MTX2	OMIM:619127
HP:0007556	Plantar hyperkeratosis	22861	NLRP1	OMIM:617388
HP:0007556	Plantar hyperkeratosis	1294	COL7A1	ORPHA:158673
HP:0007556	Plantar hyperkeratosis	51360	MBTPS2	OMIM:300918
HP:0007556	Plantar hyperkeratosis	64065	PERP	OMIM:619209
HP:0007556	Plantar hyperkeratosis	64065	PERP	OMIM:619208
HP:0007556	Plantar hyperkeratosis	55612	FERMT1	OMIM:173650
HP:0007556	Plantar hyperkeratosis	3872	KRT17	OMIM:167210
HP:0007556	Plantar hyperkeratosis	5818	NECTIN1	ORPHA:3253
HP:0007556	Plantar hyperkeratosis	5818	NECTIN1	OMIM:225060
HP:0007556	Plantar hyperkeratosis	7015	TERT	OMIM:613989
HP:0007556	Plantar hyperkeratosis	3889	KRT83	OMIM:617756
HP:0007556	Plantar hyperkeratosis	9487	PIGL	OMIM:280000
HP:0007556	Plantar hyperkeratosis	1828	DSG1	OMIM:148700
HP:0007556	Plantar hyperkeratosis	9896	FIG4	OMIM:216340
HP:0007556	Plantar hyperkeratosis	1832	DSP	OMIM:605676
HP:0007556	Plantar hyperkeratosis	5290	PIK3CA	OMIM:615108
HP:0007556	Plantar hyperkeratosis	207	AKT1	OMIM:615109
HP:0007556	Plantar hyperkeratosis	667	DST	OMIM:615425
HP:0007556	Plantar hyperkeratosis	2531	KDSR	OMIM:617526
HP:0007556	Plantar hyperkeratosis	4014	LORICRIN	ORPHA:79395
HP:0007556	Plantar hyperkeratosis	4047	LSS	ORPHA:1366
HP:0007556	Plantar hyperkeratosis	79092	CARD14	OMIM:173200
HP:0007556	Plantar hyperkeratosis	79092	CARD14	ORPHA:2897
HP:0007556	Plantar hyperkeratosis	56916	SMARCAD1	OMIM:129200
HP:0007556	Plantar hyperkeratosis	56916	SMARCAD1	ORPHA:384
HP:0007556	Plantar hyperkeratosis	1308	COL17A1	ORPHA:79406
HP:0007556	Plantar hyperkeratosis	1308	COL17A1	ORPHA:79402
HP:0007556	Plantar hyperkeratosis	4312	MMP1	ORPHA:79408
HP:0007556	Plantar hyperkeratosis	3728	JUP	OMIM:601214
HP:0007556	Plantar hyperkeratosis	3728	JUP	ORPHA:34217
HP:0007556	Plantar hyperkeratosis	3728	JUP	OMIM:611528
HP:0007556	Plantar hyperkeratosis	162	AP1B1	OMIM:242150
HP:0007556	Plantar hyperkeratosis	5167	ENPP1	OMIM:615522
HP:0007556	Plantar hyperkeratosis	4574	MT-TS1	ORPHA:2202
HP:0007556	Plantar hyperkeratosis	1824	DSC2	OMIM:610476
HP:0007556	Plantar hyperkeratosis	162514	TRPV3	ORPHA:659
HP:0007556	Plantar hyperkeratosis	162514	TRPV3	OMIM:614594
HP:0007556	Plantar hyperkeratosis	8626	TP63	OMIM:106260
HP:0007556	Plantar hyperkeratosis	8626	TP63	OMIM:129400
HP:0007556	Plantar hyperkeratosis	3849	KRT2	ORPHA:455
HP:0007556	Plantar hyperkeratosis	284654	RSPO1	ORPHA:85112
HP:0007556	Plantar hyperkeratosis	284654	RSPO1	OMIM:610644
HP:0007556	Plantar hyperkeratosis	5604	MAP2K1	ORPHA:1340
HP:0007556	Plantar hyperkeratosis	3845	KRAS	ORPHA:1340
HP:0007556	Plantar hyperkeratosis	673	BRAF	ORPHA:1340
HP:0007556	Plantar hyperkeratosis	6578	SLCO2A1	ORPHA:2796
HP:0007556	Plantar hyperkeratosis	3909	LAMA3	ORPHA:79402
HP:0007556	Plantar hyperkeratosis	3918	LAMC2	ORPHA:79402
HP:0007556	Plantar hyperkeratosis	3691	ITGB4	ORPHA:79402
HP:0007556	Plantar hyperkeratosis	26154	ABCA12	OMIM:601277
HP:0007556	Plantar hyperkeratosis	26154	ABCA12	ORPHA:79394
HP:0007556	Plantar hyperkeratosis	6898	TAT	ORPHA:28378
HP:0007556	Plantar hyperkeratosis	10483	SEC23B	ORPHA:201
HP:0007556	Plantar hyperkeratosis	6390	SDHB	ORPHA:201
HP:0007556	Plantar hyperkeratosis	6392	SDHD	ORPHA:201
HP:0007556	Plantar hyperkeratosis	6391	SDHC	ORPHA:201
HP:0007556	Plantar hyperkeratosis	205717	USF3	ORPHA:201
HP:0007556	Plantar hyperkeratosis	100144748	KLLN	ORPHA:201
HP:0007556	Plantar hyperkeratosis	1475	CSTA	OMIM:607936
HP:0007556	Plantar hyperkeratosis	285848	PNPLA1	OMIM:615024
HP:0007556	Plantar hyperkeratosis	285848	PNPLA1	ORPHA:79394
HP:0007556	Plantar hyperkeratosis	23328	SASH1	OMIM:618373
HP:0007556	Plantar hyperkeratosis	1474	CST6	OMIM:618535
HP:0007556	Plantar hyperkeratosis	412	STS	OMIM:308100
HP:0007556	Plantar hyperkeratosis	3854	KRT6B	ORPHA:2309
HP:0007556	Plantar hyperkeratosis	3854	KRT6B	OMIM:615728
HP:0007556	Plantar hyperkeratosis	54795	TRPM4	ORPHA:316
HP:0007556	Plantar hyperkeratosis	59344	ALOXE3	OMIM:242100
HP:0007556	Plantar hyperkeratosis	59344	ALOXE3	OMIM:606545
HP:0007556	Plantar hyperkeratosis	59344	ALOXE3	ORPHA:79394
HP:0007556	Plantar hyperkeratosis	242	ALOX12B	OMIM:242100
HP:0007556	Plantar hyperkeratosis	242	ALOX12B	ORPHA:79394
HP:0007556	Plantar hyperkeratosis	126410	CYP4F22	OMIM:604777
HP:0007556	Plantar hyperkeratosis	348938	NIPAL4	OMIM:612281
HP:0007556	Plantar hyperkeratosis	348938	NIPAL4	ORPHA:79394
HP:0007556	Plantar hyperkeratosis	5184	PEPD	ORPHA:742
HP:0007556	Plantar hyperkeratosis	51371	POMP	ORPHA:281201
HP:0007556	Plantar hyperkeratosis	57152	SLURP1	ORPHA:87503
HP:0007556	Plantar hyperkeratosis	25959	KANK2	OMIM:616099
HP:0007556	Plantar hyperkeratosis	2263	FGFR2	ORPHA:1555
HP:0007556	Plantar hyperkeratosis	488	ATP2A2	ORPHA:218
HP:0007556	Plantar hyperkeratosis	57192	MCOLN1	ORPHA:578
HP:0007556	Plantar hyperkeratosis	1493	CTLA4	ORPHA:3162
HP:0007556	Plantar hyperkeratosis	940	CD28	ORPHA:3162
HP:0007556	Plantar hyperkeratosis	7133	TNFRSF1B	ORPHA:3162
HP:0007556	Plantar hyperkeratosis	9342	SNAP29	OMIM:609528
HP:0007556	Plantar hyperkeratosis	10848	PPP1R13L	OMIM:620519
HP:0007556	Plantar hyperkeratosis	79977	GRHL2	OMIM:616029
HP:0007556	Plantar hyperkeratosis	79651	RHBDF2	ORPHA:2198
HP:0007556	Plantar hyperkeratosis	79644	SRD5A3	ORPHA:324737
HP:0007556	Plantar hyperkeratosis	1080	CFTR	ORPHA:498359
HP:0007556	Plantar hyperkeratosis	80169	CTC1	ORPHA:1775
HP:0007556	Plantar hyperkeratosis	26277	TINF2	ORPHA:1775
HP:0007556	Plantar hyperkeratosis	55135	WRAP53	ORPHA:1775
HP:0007556	Plantar hyperkeratosis	51750	RTEL1	ORPHA:1775
HP:0007556	Plantar hyperkeratosis	4869	NPM1	ORPHA:1775
HP:0007556	Plantar hyperkeratosis	7012	TERC	ORPHA:1775
HP:0007556	Plantar hyperkeratosis	5073	PARN	ORPHA:1775
HP:0007556	Plantar hyperkeratosis	1736	DKC1	ORPHA:1775
HP:0007556	Plantar hyperkeratosis	7298	TYMS	ORPHA:1775
HP:0007556	Plantar hyperkeratosis	127534	GJB4	OMIM:617524
HP:0007556	Plantar hyperkeratosis	7286	TUFT1	OMIM:620415
HP:0007556	Plantar hyperkeratosis	204219	CERS3	ORPHA:79394
HP:0007556	Plantar hyperkeratosis	6820	SULT2B1	ORPHA:79394
HP:0007556	Plantar hyperkeratosis	2707	GJB3	ORPHA:317
HP:0007556	Plantar hyperkeratosis	2707	GJB3	OMIM:133200
HP:0007556	Plantar hyperkeratosis	362	AQP5	OMIM:600231
HP:0007556	Plantar hyperkeratosis	362	AQP5	ORPHA:2337
HP:0007556	Plantar hyperkeratosis	145264	SERPINA12	ORPHA:86923
HP:0007556	Plantar hyperkeratosis	54800	KLHL24	OMIM:617294
HP:0007556	Plantar hyperkeratosis	831	CAST	OMIM:616295
HP:0007556	Plantar hyperkeratosis	26276	VPS33B	OMIM:620009
HP:0007556	Plantar hyperkeratosis	5339	PLEC	OMIM:616487
HP:0007556	Plantar hyperkeratosis	3914	LAMB3	OMIM:226650
HP:0007556	Plantar hyperkeratosis	9401	RECQL4	ORPHA:221016
HP:0007556	Plantar hyperkeratosis	286887	KRT6C	OMIM:615735
HP:0007556	Plantar hyperkeratosis	7486	WRN	OMIM:277700
HP:0007556	Plantar hyperkeratosis	3852	KRT5	ORPHA:79397
HP:0007556	Plantar hyperkeratosis	3852	KRT5	ORPHA:79399
HP:0007556	Plantar hyperkeratosis	3852	KRT5	ORPHA:79400
HP:0007556	Plantar hyperkeratosis	3861	KRT14	ORPHA:79397
HP:0007556	Plantar hyperkeratosis	3861	KRT14	ORPHA:79399
HP:0007556	Plantar hyperkeratosis	3861	KRT14	ORPHA:79400
HP:0007556	Plantar hyperkeratosis	3853	KRT6A	OMIM:615726
HP:0007556	Plantar hyperkeratosis	29926	GMPPA	ORPHA:869
HP:0007556	Plantar hyperkeratosis	60684	TRAPPC11	ORPHA:869
HP:0007556	Plantar hyperkeratosis	8086	AAAS	ORPHA:869
HP:0007556	Plantar hyperkeratosis	80326	WNT10A	OMIM:257980
HP:0007556	Plantar hyperkeratosis	3857	KRT9	OMIM:144200
HP:0007556	Plantar hyperkeratosis	79650	USB1	OMIM:604173
HP:0007556	Plantar hyperkeratosis	2697	GJA1	OMIM:104100
HP:0007556	Plantar hyperkeratosis	64682	ANAPC1	ORPHA:221008
HP:0007383	Congenital localized absence of skin	9790	BMS1	ORPHA:1114
HP:0007383	Congenital localized absence of skin	5339	PLEC	ORPHA:1114
HP:0007383	Congenital localized absence of skin	10054	UBA2	ORPHA:1114
HP:0007383	Congenital localized absence of skin	3691	ITGB4	ORPHA:1114
HP:0007383	Congenital localized absence of skin	54567	DLL4	ORPHA:1114
HP:0007383	Congenital localized absence of skin	1294	COL7A1	OMIM:132000
HP:0007383	Congenital localized absence of skin	3914	LAMB3	OMIM:226700
HP:0007383	Congenital localized absence of skin	3918	LAMC2	OMIM:226700
HP:0007383	Congenital localized absence of skin	3909	LAMA3	OMIM:226700
HP:0007384	Aberrant melanosome maturation	8546	AP3B1	OMIM:608233
HP:0012680	Abnormality of the pineal gland	57104	PNPLA2	ORPHA:98908
HP:0012680	Abnormality of the pineal gland	23394	ADNP	OMIM:615873
HP:0012680	Abnormality of the pineal gland	80232	WDR26	OMIM:617616
HP:0012680	Abnormality of the pineal gland	80232	WDR26	ORPHA:513456
HP:0012680	Abnormality of the pineal gland	5718	PSMD12	OMIM:617516
HP:0012680	Abnormality of the pineal gland	5718	PSMD12	ORPHA:529962
HP:0012680	Abnormality of the pineal gland	3845	KRAS	OMIM:600268
HP:0012680	Abnormality of the pineal gland	284058	KANSL1	ORPHA:363965
HP:0012680	Abnormality of the pineal gland	284058	KANSL1	ORPHA:363958
HP:0012680	Abnormality of the pineal gland	26834	RNU4-2	OMIM:620851
HP:0012680	Abnormality of the pineal gland	4841	NONO	OMIM:300967
HP:0012680	Abnormality of the pineal gland	2590	GALNT2	OMIM:618885
HP:0012680	Abnormality of the pineal gland	2186	BPTF	ORPHA:529962
HP:0012680	Abnormality of the pineal gland	1736	DKC1	OMIM:301108
HP:0012680	Abnormality of the pineal gland	3643	INSR	ORPHA:769
HP:0012680	Abnormality of the pineal gland	11023	VAX1	OMIM:614402
HP:0012680	Abnormality of the pineal gland	5621	PRNP	ORPHA:466
HP:0012680	Abnormality of the pineal gland	2314	FLII	ORPHA:819
HP:0012680	Abnormality of the pineal gland	23096	IQSEC2	ORPHA:819
HP:0012680	Abnormality of the pineal gland	10743	RAI1	ORPHA:819
HP:0012680	Abnormality of the pineal gland	10522	DEAF1	ORPHA:819
HP:0012680	Abnormality of the pineal gland	5205	ATP8B1	ORPHA:69665
HP:0012680	Abnormality of the pineal gland	8647	ABCB11	ORPHA:69665
HP:0012680	Abnormality of the pineal gland	5244	ABCB4	ORPHA:69665
HP:0012680	Abnormality of the pineal gland	9971	NR1H4	ORPHA:69665
HP:0012681	Abnormal pineal morphology	57104	PNPLA2	ORPHA:98908
HP:0012681	Abnormal pineal morphology	23394	ADNP	OMIM:615873
HP:0012681	Abnormal pineal morphology	80232	WDR26	OMIM:617616
HP:0012681	Abnormal pineal morphology	80232	WDR26	ORPHA:513456
HP:0012681	Abnormal pineal morphology	5718	PSMD12	OMIM:617516
HP:0012681	Abnormal pineal morphology	5718	PSMD12	ORPHA:529962
HP:0012681	Abnormal pineal morphology	3845	KRAS	OMIM:600268
HP:0012681	Abnormal pineal morphology	284058	KANSL1	ORPHA:363965
HP:0012681	Abnormal pineal morphology	284058	KANSL1	ORPHA:363958
HP:0012681	Abnormal pineal morphology	26834	RNU4-2	OMIM:620851
HP:0012681	Abnormal pineal morphology	4841	NONO	OMIM:300967
HP:0012681	Abnormal pineal morphology	2590	GALNT2	OMIM:618885
HP:0012681	Abnormal pineal morphology	2186	BPTF	ORPHA:529962
HP:0012681	Abnormal pineal morphology	1736	DKC1	OMIM:301108
HP:0012681	Abnormal pineal morphology	3643	INSR	ORPHA:769
HP:0012681	Abnormal pineal morphology	11023	VAX1	OMIM:614402
HP:0012683	Pineal cyst	57104	PNPLA2	ORPHA:98908
HP:0012683	Pineal cyst	23394	ADNP	OMIM:615873
HP:0012683	Pineal cyst	80232	WDR26	OMIM:617616
HP:0012683	Pineal cyst	80232	WDR26	ORPHA:513456
HP:0012683	Pineal cyst	5718	PSMD12	OMIM:617516
HP:0012683	Pineal cyst	5718	PSMD12	ORPHA:529962
HP:0012683	Pineal cyst	3845	KRAS	OMIM:600268
HP:0012683	Pineal cyst	284058	KANSL1	ORPHA:363965
HP:0012683	Pineal cyst	284058	KANSL1	ORPHA:363958
HP:0012683	Pineal cyst	26834	RNU4-2	OMIM:620851
HP:0012683	Pineal cyst	4841	NONO	OMIM:300967
HP:0012683	Pineal cyst	2590	GALNT2	OMIM:618885
HP:0012683	Pineal cyst	2186	BPTF	ORPHA:529962
HP:0012684	Abnormal pineal volume	1736	DKC1	OMIM:301108
HP:0012684	Abnormal pineal volume	3643	INSR	ORPHA:769
HP:0012685	Decreased pineal volume	1736	DKC1	OMIM:301108
HP:0012686	Increased pineal volume	3643	INSR	ORPHA:769
HP:0012687	Agenesis of pineal gland	11023	VAX1	OMIM:614402
HP:0012688	Abnormality of pineal physiology	5621	PRNP	ORPHA:466
HP:0012688	Abnormality of pineal physiology	2314	FLII	ORPHA:819
HP:0012688	Abnormality of pineal physiology	23096	IQSEC2	ORPHA:819
HP:0012688	Abnormality of pineal physiology	10743	RAI1	ORPHA:819
HP:0012688	Abnormality of pineal physiology	10522	DEAF1	ORPHA:819
HP:0012688	Abnormality of pineal physiology	5205	ATP8B1	ORPHA:69665
HP:0012688	Abnormality of pineal physiology	8647	ABCB11	ORPHA:69665
HP:0012688	Abnormality of pineal physiology	5244	ABCB4	ORPHA:69665
HP:0012688	Abnormality of pineal physiology	9971	NR1H4	ORPHA:69665
HP:0012689	Abnormal pineal melatonin secretion	5621	PRNP	ORPHA:466
HP:0012689	Abnormal pineal melatonin secretion	2314	FLII	ORPHA:819
HP:0012689	Abnormal pineal melatonin secretion	23096	IQSEC2	ORPHA:819
HP:0012689	Abnormal pineal melatonin secretion	10743	RAI1	ORPHA:819
HP:0012689	Abnormal pineal melatonin secretion	10522	DEAF1	ORPHA:819
HP:0012689	Abnormal pineal melatonin secretion	5205	ATP8B1	ORPHA:69665
HP:0012689	Abnormal pineal melatonin secretion	8647	ABCB11	ORPHA:69665
HP:0012689	Abnormal pineal melatonin secretion	5244	ABCB4	ORPHA:69665
HP:0012689	Abnormal pineal melatonin secretion	9971	NR1H4	ORPHA:69665
HP:0007385	Aplasia cutis congenita of scalp	9790	BMS1	ORPHA:1114
HP:0007385	Aplasia cutis congenita of scalp	9790	BMS1	OMIM:107600
HP:0007385	Aplasia cutis congenita of scalp	55784	MCTP2	ORPHA:1596
HP:0007385	Aplasia cutis congenita of scalp	999	CDH1	OMIM:119580
HP:0007385	Aplasia cutis congenita of scalp	79796	ALG9	ORPHA:79328
HP:0007385	Aplasia cutis congenita of scalp	197131	UBR1	OMIM:243800
HP:0007385	Aplasia cutis congenita of scalp	10815	CPLX1	ORPHA:280
HP:0007385	Aplasia cutis congenita of scalp	10815	CPLX1	OMIM:194190
HP:0007385	Aplasia cutis congenita of scalp	54872	PIGG	ORPHA:280
HP:0007385	Aplasia cutis congenita of scalp	7469	NELFA	ORPHA:280
HP:0007385	Aplasia cutis congenita of scalp	1487	CTBP1	ORPHA:280
HP:0007385	Aplasia cutis congenita of scalp	1487	CTBP1	OMIM:194190
HP:0007385	Aplasia cutis congenita of scalp	3954	LETM1	ORPHA:280
HP:0007385	Aplasia cutis congenita of scalp	3954	LETM1	OMIM:194190
HP:0007385	Aplasia cutis congenita of scalp	7468	NSD2	ORPHA:280
HP:0007385	Aplasia cutis congenita of scalp	7468	NSD2	OMIM:194190
HP:0007385	Aplasia cutis congenita of scalp	4488	MSX2	ORPHA:60015
HP:0007385	Aplasia cutis congenita of scalp	4488	MSX2	OMIM:168500
HP:0007385	Aplasia cutis congenita of scalp	60529	ALX4	ORPHA:60015
HP:0007385	Aplasia cutis congenita of scalp	60529	ALX4	OMIM:609597
HP:0007385	Aplasia cutis congenita of scalp	5339	PLEC	ORPHA:158684
HP:0007385	Aplasia cutis congenita of scalp	3691	ITGB4	ORPHA:158684
HP:0007385	Aplasia cutis congenita of scalp	54567	DLL4	OMIM:616589
HP:0007385	Aplasia cutis congenita of scalp	10054	UBA2	OMIM:619959
HP:0007385	Aplasia cutis congenita of scalp	3655	ITGA6	OMIM:619817
HP:0007385	Aplasia cutis congenita of scalp	2355	FOSL2	OMIM:620789
HP:0007385	Aplasia cutis congenita of scalp	53834	FGFRL1	OMIM:194190
HP:0007385	Aplasia cutis congenita of scalp	57514	ARHGAP31	OMIM:100300
HP:0001067	Neurofibroma	4763	NF1	OMIM:601321
HP:0001067	Neurofibroma	4763	NF1	OMIM:162200
HP:0001067	Neurofibroma	4763	NF1	OMIM:162210
HP:0001067	Neurofibroma	4763	NF1	OMIM:193520
HP:0001067	Neurofibroma	6390	SDHB	OMIM:606764
HP:0001067	Neurofibroma	6391	SDHC	OMIM:606764
HP:0001067	Neurofibroma	3815	KIT	OMIM:606764
HP:0001067	Neurofibroma	6711	SPTBN1	OMIM:619475
HP:0001067	Neurofibroma	161742	SPRED1	OMIM:611431
HP:0001067	Neurofibroma	161742	SPRED1	ORPHA:137605
HP:0001067	Neurofibroma	8314	BAP1	ORPHA:2495
HP:0001067	Neurofibroma	4771	NF2	ORPHA:2495
HP:0001067	Neurofibroma	4771	NF2	OMIM:101000
HP:0001067	Neurofibroma	6598	SMARCB1	ORPHA:2495
HP:0001067	Neurofibroma	5155	PDGFB	ORPHA:2495
HP:0001067	Neurofibroma	84231	TRAF7	ORPHA:2495
HP:0001067	Neurofibroma	6608	SMO	ORPHA:2495
HP:0001067	Neurofibroma	207	AKT1	ORPHA:2495
HP:0001067	Neurofibroma	5290	PIK3CA	ORPHA:2495
HP:0001067	Neurofibroma	7015	TERT	ORPHA:2495
HP:0001067	Neurofibroma	51684	SUFU	ORPHA:2495
HP:0001067	Neurofibroma	51684	SUFU	OMIM:620343
HP:0001067	Neurofibroma	6605	SMARCE1	ORPHA:2495
HP:0001067	Neurofibroma	4035	LRP1	ORPHA:79100
HP:0001067	Neurofibroma	4292	MLH1	OMIM:276300
HP:0007387	Hypoplastic sweat glands	126695	KDF1	OMIM:617337
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	59344	ALOXE3	OMIM:242100
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	59344	ALOXE3	OMIM:606545
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	242	ALOX12B	OMIM:242100
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	126410	CYP4F22	OMIM:604777
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	7051	TGM1	OMIM:242300
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	7051	TGM1	ORPHA:100976
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	6820	SULT2B1	OMIM:617571
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	348938	NIPAL4	OMIM:612281
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	2629	GBA1	ORPHA:85212
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	2629	GBA1	OMIM:608013
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	2629	GBA1	ORPHA:77260
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	51099	ABHD5	ORPHA:98907
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	51099	ABHD5	OMIM:275630
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	6897	TARS1	OMIM:618546
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	3858	KRT10	OMIM:609165
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	3858	KRT10	OMIM:620150
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	3858	KRT10	OMIM:620707
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	26154	ABCA12	OMIM:601277
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	10682	EBP	OMIM:302960
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	51371	POMP	OMIM:601952
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	2071	ERCC3	OMIM:616390
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	2068	ERCC2	OMIM:601675
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	404672	GTF2H5	OMIM:616395
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	204219	CERS3	OMIM:615023
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	285848	PNPLA1	OMIM:615024
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	11005	SPINK5	OMIM:256500
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	11005	SPINK5	ORPHA:634
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	151516	ASPRV1	OMIM:146750
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	6785	ELOVL4	OMIM:614457
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	2531	KDSR	OMIM:617526
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	4014	LORICRIN	ORPHA:79395
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	51163	DBR1	OMIM:620510
HP:0000974	Hyperextensible skin	22827	PUF60	ORPHA:508498
HP:0000974	Hyperextensible skin	7528	YY1	ORPHA:506358
HP:0000974	Hyperextensible skin	8036	SHOC2	OMIM:607721
HP:0000974	Hyperextensible skin	8367	H4C5	OMIM:619950
HP:0000974	Hyperextensible skin	5351	PLOD1	OMIM:225400
HP:0000974	Hyperextensible skin	5351	PLOD1	ORPHA:1900
HP:0000974	Hyperextensible skin	8216	LZTR1	OMIM:616564
HP:0000974	Hyperextensible skin	8216	LZTR1	OMIM:605275
HP:0000974	Hyperextensible skin	7148	TNXB	ORPHA:230839
HP:0000974	Hyperextensible skin	7148	TNXB	OMIM:606408
HP:0000974	Hyperextensible skin	6016	RIT1	OMIM:615355
HP:0000974	Hyperextensible skin	2263	FGFR2	OMIM:149730
HP:0000974	Hyperextensible skin	538	ATP7A	OMIM:304150
HP:0000974	Hyperextensible skin	538	ATP7A	ORPHA:565
HP:0000974	Hyperextensible skin	538	ATP7A	ORPHA:198
HP:0000974	Hyperextensible skin	10516	FBLN5	OMIM:608895
HP:0000974	Hyperextensible skin	10516	FBLN5	OMIM:619764
HP:0000974	Hyperextensible skin	10516	FBLN5	ORPHA:90348
HP:0000974	Hyperextensible skin	10516	FBLN5	OMIM:219100
HP:0000974	Hyperextensible skin	54453	RIN2	ORPHA:217335
HP:0000974	Hyperextensible skin	54453	RIN2	OMIM:613075
HP:0000974	Hyperextensible skin	1278	COL1A2	ORPHA:230851
HP:0000974	Hyperextensible skin	1278	COL1A2	OMIM:617821
HP:0000974	Hyperextensible skin	1278	COL1A2	OMIM:225320
HP:0000974	Hyperextensible skin	1278	COL1A2	OMIM:619120
HP:0000974	Hyperextensible skin	1278	COL1A2	ORPHA:1899
HP:0000974	Hyperextensible skin	6651	SON	OMIM:617140
HP:0000974	Hyperextensible skin	117581	TWIST2	ORPHA:1231
HP:0000974	Hyperextensible skin	55033	FKBP14	OMIM:614557
HP:0000974	Hyperextensible skin	55033	FKBP14	ORPHA:300179
HP:0000974	Hyperextensible skin	1289	COL5A1	OMIM:619329
HP:0000974	Hyperextensible skin	1289	COL5A1	ORPHA:287
HP:0000974	Hyperextensible skin	1289	COL5A1	OMIM:130000
HP:0000974	Hyperextensible skin	1281	COL3A1	OMIM:130050
HP:0000974	Hyperextensible skin	716	C1S	ORPHA:75392
HP:0000974	Hyperextensible skin	716	C1S	OMIM:617174
HP:0000974	Hyperextensible skin	715	C1R	ORPHA:75392
HP:0000974	Hyperextensible skin	715	C1R	OMIM:130080
HP:0000974	Hyperextensible skin	165	AEBP1	OMIM:618000
HP:0000974	Hyperextensible skin	165	AEBP1	ORPHA:536532
HP:0000974	Hyperextensible skin	113189	CHST14	ORPHA:2953
HP:0000974	Hyperextensible skin	113189	CHST14	OMIM:601776
HP:0000974	Hyperextensible skin	29940	DSE	ORPHA:2953
HP:0000974	Hyperextensible skin	3376	IARS1	ORPHA:541423
HP:0000974	Hyperextensible skin	5604	MAP2K1	ORPHA:1340
HP:0000974	Hyperextensible skin	5605	MAP2K2	ORPHA:1340
HP:0000974	Hyperextensible skin	5605	MAP2K2	OMIM:615280
HP:0000974	Hyperextensible skin	3845	KRAS	ORPHA:1340
HP:0000974	Hyperextensible skin	673	BRAF	ORPHA:1340
HP:0000974	Hyperextensible skin	673	BRAF	ORPHA:500
HP:0000974	Hyperextensible skin	10000	AKT3	OMIM:615937
HP:0000974	Hyperextensible skin	9719	ADAMTSL2	ORPHA:1901
HP:0000974	Hyperextensible skin	9509	ADAMTS2	ORPHA:1901
HP:0000974	Hyperextensible skin	9509	ADAMTS2	OMIM:225410
HP:0000974	Hyperextensible skin	9056	SLC7A7	OMIM:222700
HP:0000974	Hyperextensible skin	1277	COL1A1	ORPHA:287
HP:0000974	Hyperextensible skin	1277	COL1A1	OMIM:130060
HP:0000974	Hyperextensible skin	1277	COL1A1	OMIM:619115
HP:0000974	Hyperextensible skin	1277	COL1A1	ORPHA:1899
HP:0000974	Hyperextensible skin	1290	COL5A2	ORPHA:287
HP:0000974	Hyperextensible skin	1290	COL5A2	OMIM:130010
HP:0000974	Hyperextensible skin	5159	PDGFRB	OMIM:616592
HP:0000974	Hyperextensible skin	64132	XYLT2	ORPHA:85194
HP:0000974	Hyperextensible skin	11285	B4GALT7	ORPHA:75496
HP:0000974	Hyperextensible skin	11285	B4GALT7	OMIM:130070
HP:0000974	Hyperextensible skin	2316	FLNA	ORPHA:75497
HP:0000974	Hyperextensible skin	2316	FLNA	ORPHA:555877
HP:0000974	Hyperextensible skin	10526	IPO8	OMIM:619472
HP:0000974	Hyperextensible skin	7058	THBS2	OMIM:620865
HP:0000974	Hyperextensible skin	3643	INSR	ORPHA:508
HP:0000974	Hyperextensible skin	81031	SLC2A10	ORPHA:3342
HP:0000974	Hyperextensible skin	81031	SLC2A10	OMIM:208050
HP:0000974	Hyperextensible skin	1836	SLC26A2	ORPHA:628
HP:0000974	Hyperextensible skin	2006	ELN	OMIM:123700
HP:0000974	Hyperextensible skin	2006	ELN	ORPHA:90348
HP:0000974	Hyperextensible skin	5781	PTPN11	ORPHA:500
HP:0000974	Hyperextensible skin	5894	RAF1	ORPHA:500
HP:0000974	Hyperextensible skin	1303	COL12A1	ORPHA:536516
HP:0000974	Hyperextensible skin	79813	EHMT1	ORPHA:261652
HP:0000974	Hyperextensible skin	58508	KMT2C	ORPHA:261652
HP:0000974	Hyperextensible skin	79971	WLS	OMIM:619648
HP:0000974	Hyperextensible skin	5832	ALDH18A1	OMIM:219150
HP:0000974	Hyperextensible skin	5832	ALDH18A1	ORPHA:90348
HP:0000974	Hyperextensible skin	5832	ALDH18A1	ORPHA:35664
HP:0000974	Hyperextensible skin	11107	PRDM5	ORPHA:90354
HP:0000974	Hyperextensible skin	84627	ZNF469	ORPHA:90354
HP:0000974	Hyperextensible skin	126792	B3GALT6	OMIM:271640
HP:0000974	Hyperextensible skin	126792	B3GALT6	ORPHA:536467
HP:0000974	Hyperextensible skin	126792	B3GALT6	OMIM:615349
HP:0000974	Hyperextensible skin	6497	SKI	OMIM:182212
HP:0000974	Hyperextensible skin	6497	SKI	ORPHA:2462
HP:0000974	Hyperextensible skin	2629	GBA1	ORPHA:2072
HP:0000974	Hyperextensible skin	6603	SMARCD2	OMIM:617475
HP:0000974	Hyperextensible skin	92344	GORAB	ORPHA:2078
HP:0000974	Hyperextensible skin	5831	PYCR1	ORPHA:2078
HP:0000974	Hyperextensible skin	5076	PAX2	OMIM:120330
HP:0000974	Hyperextensible skin	9469	CHST3	OMIM:245600
HP:0000974	Hyperextensible skin	26229	B3GAT3	OMIM:245600
HP:0000974	Hyperextensible skin	91252	SLC39A13	ORPHA:157965
HP:0000974	Hyperextensible skin	91252	SLC39A13	OMIM:612350
HP:0000974	Hyperextensible skin	2245	FGD1	ORPHA:915
HP:0000974	Hyperextensible skin	84168	ANTXR1	ORPHA:2067
HP:0000974	Hyperextensible skin	2200	FBN1	ORPHA:2462
HP:0000974	Hyperextensible skin	5167	ENPP1	ORPHA:758
HP:0000974	Hyperextensible skin	368	ABCC6	ORPHA:758
HP:0000974	Hyperextensible skin	7042	TGFB2	OMIM:614816
HP:0030227	Accumulation of muscle fiber myotilin	10073	SNUPN	OMIM:620793
HP:0030226	Abnormal muscle fiber myotilin	9499	MYOT	ORPHA:98911
HP:0030226	Abnormal muscle fiber myotilin	10073	SNUPN	OMIM:620793
HP:0030225	Accumulation of muscle fiber desmin	1410	CRYAB	ORPHA:399058
HP:0030224	Abnormal muscle fiber desmin	1410	CRYAB	ORPHA:399058
HP:0030223	Perseverative thought	51204	TACO1	OMIM:619052
HP:0030223	Perseverative thought	5621	PRNP	ORPHA:280397
HP:0030223	Perseverative thought	5621	PRNP	OMIM:137440
HP:0030223	Perseverative thought	10577	NPC2	OMIM:607625
HP:0030223	Perseverative thought	4841	NONO	OMIM:300967
HP:0030223	Perseverative thought	5663	PSEN1	OMIM:172700
HP:0030223	Perseverative thought	5663	PSEN1	ORPHA:275864
HP:0030223	Perseverative thought	5663	PSEN1	ORPHA:100070
HP:0030223	Perseverative thought	4137	MAPT	OMIM:172700
HP:0030223	Perseverative thought	4137	MAPT	ORPHA:275864
HP:0030223	Perseverative thought	4137	MAPT	ORPHA:100070
HP:0030223	Perseverative thought	23152	CIC	OMIM:617600
HP:0030223	Perseverative thought	7874	USP7	OMIM:616863
HP:0030223	Perseverative thought	23435	TARDBP	OMIM:612069
HP:0030223	Perseverative thought	23435	TARDBP	ORPHA:275872
HP:0030223	Perseverative thought	25978	CHMP2B	ORPHA:275864
HP:0030223	Perseverative thought	25978	CHMP2B	ORPHA:100070
HP:0030223	Perseverative thought	2896	GRN	ORPHA:275864
HP:0030223	Perseverative thought	2896	GRN	OMIM:607485
HP:0030223	Perseverative thought	2896	GRN	ORPHA:100070
HP:0030223	Perseverative thought	54664	TMEM106B	ORPHA:275864
HP:0030223	Perseverative thought	54664	TMEM106B	ORPHA:100070
HP:0030223	Perseverative thought	8878	SQSTM1	ORPHA:275864
HP:0030223	Perseverative thought	8878	SQSTM1	ORPHA:275872
HP:0030223	Perseverative thought	54209	TREM2	ORPHA:275864
HP:0030223	Perseverative thought	54209	TREM2	ORPHA:100070
HP:0030223	Perseverative thought	7415	VCP	ORPHA:275864
HP:0030223	Perseverative thought	7415	VCP	ORPHA:275872
HP:0030223	Perseverative thought	7415	VCP	ORPHA:100070
HP:0030223	Perseverative thought	7274	TTPA	OMIM:277460
HP:0030223	Perseverative thought	2521	FUS	ORPHA:275872
HP:0030223	Perseverative thought	29110	TBK1	ORPHA:275872
HP:0030223	Perseverative thought	400916	CHCHD10	ORPHA:275872
HP:0030223	Perseverative thought	4854	NOTCH3	OMIM:125310
HP:0030222	Visual agnosia	25978	CHMP2B	ORPHA:100069
HP:0030222	Visual agnosia	5663	PSEN1	ORPHA:100069
HP:0030222	Visual agnosia	2896	GRN	ORPHA:100069
HP:0030222	Visual agnosia	54664	TMEM106B	ORPHA:100069
HP:0030222	Visual agnosia	4137	MAPT	ORPHA:100069
HP:0030222	Visual agnosia	54209	TREM2	ORPHA:100069
HP:0030222	Visual agnosia	387119	CEP85L	OMIM:618873
HP:0030222	Visual agnosia	215	ABCD1	ORPHA:139396
HP:0030221	Sweet craving	9881	TRANK1	ORPHA:33543
HP:0030220	Socially inappropriate behavior	23230	VPS13A	ORPHA:2388
HP:0030230	Central core regions in muscle fibers	7169	TPM2	OMIM:609285
HP:0030230	Central core regions in muscle fibers	6261	RYR1	ORPHA:597
HP:0030230	Central core regions in muscle fibers	6261	RYR1	OMIM:117000
HP:0030230	Central core regions in muscle fibers	79912	PYROXD1	OMIM:617258
HP:0030230	Central core regions in muscle fibers	10367	MICU1	ORPHA:401768
HP:0007390	Hyperkeratosis with erythema	57152	SLURP1	ORPHA:86923
HP:0007390	Hyperkeratosis with erythema	145264	SERPINA12	ORPHA:86923
HP:0001582	Redundant skin	6197	RPS6KA3	ORPHA:192
HP:0001582	Redundant skin	2261	FGFR3	OMIM:616482
HP:0001582	Redundant skin	2261	FGFR3	ORPHA:93274
HP:0001582	Redundant skin	2261	FGFR3	ORPHA:1860
HP:0001582	Redundant skin	8425	LTBP4	OMIM:613177
HP:0001582	Redundant skin	9791	PTDSS1	ORPHA:2658
HP:0001582	Redundant skin	29957	SLC25A24	OMIM:612289
HP:0001582	Redundant skin	29957	SLC25A24	ORPHA:2963
HP:0001582	Redundant skin	117581	TWIST2	OMIM:209885
HP:0001582	Redundant skin	117581	TWIST2	OMIM:200110
HP:0001582	Redundant skin	117581	TWIST2	ORPHA:1231
HP:0001582	Redundant skin	117581	TWIST2	ORPHA:920
HP:0001582	Redundant skin	117581	TWIST2	ORPHA:1807
HP:0001582	Redundant skin	2677	GGCX	ORPHA:436274
HP:0001582	Redundant skin	2677	GGCX	ORPHA:91135
HP:0001582	Redundant skin	6804	STX1A	ORPHA:904
HP:0001582	Redundant skin	7461	CLIP2	ORPHA:904
HP:0001582	Redundant skin	84277	DNAJC30	ORPHA:904
HP:0001582	Redundant skin	8468	FKBP6	ORPHA:904
HP:0001582	Redundant skin	5982	RFC2	ORPHA:904
HP:0001582	Redundant skin	2969	GTF2I	ORPHA:904
HP:0001582	Redundant skin	3984	LIMK1	ORPHA:904
HP:0001582	Redundant skin	9569	GTF2IRD1	ORPHA:904
HP:0001582	Redundant skin	155382	VPS37D	ORPHA:904
HP:0001582	Redundant skin	155368	METTL27	ORPHA:904
HP:0001582	Redundant skin	114049	BUD23	ORPHA:904
HP:0001582	Redundant skin	7458	EIF4H	ORPHA:904
HP:0001582	Redundant skin	84163	GTF2IRD2	ORPHA:904
HP:0001582	Redundant skin	26608	TBL2	ORPHA:904
HP:0001582	Redundant skin	653361	NCF1	ORPHA:904
HP:0001582	Redundant skin	135886	TMEM270	ORPHA:904
HP:0001582	Redundant skin	9031	BAZ1B	ORPHA:904
HP:0001582	Redundant skin	2006	ELN	ORPHA:904
HP:0001582	Redundant skin	2006	ELN	OMIM:123700
HP:0001582	Redundant skin	2006	ELN	ORPHA:90348
HP:0001582	Redundant skin	3008	H1-4	OMIM:617537
HP:0001582	Redundant skin	81031	SLC2A10	ORPHA:3342
HP:0001582	Redundant skin	3845	KRAS	OMIM:609942
HP:0001582	Redundant skin	3845	KRAS	ORPHA:1340
HP:0001582	Redundant skin	538	ATP7A	OMIM:304150
HP:0001582	Redundant skin	3248	HPGD	OMIM:259100
HP:0001582	Redundant skin	23545	ATP6V0A2	OMIM:219200
HP:0001582	Redundant skin	23545	ATP6V0A2	ORPHA:357074
HP:0001582	Redundant skin	23545	ATP6V0A2	OMIM:278250
HP:0001582	Redundant skin	2131	EXT1	ORPHA:502
HP:0001582	Redundant skin	5885	RAD21	ORPHA:502
HP:0001582	Redundant skin	7227	TRPS1	ORPHA:502
HP:0001582	Redundant skin	5308	PITX2	ORPHA:782
HP:0001582	Redundant skin	2296	FOXC1	ORPHA:782
HP:0001582	Redundant skin	6535	SLC6A8	ORPHA:52503
HP:0001582	Redundant skin	54453	RIN2	ORPHA:217335
HP:0001582	Redundant skin	54453	RIN2	OMIM:613075
HP:0001582	Redundant skin	26281	FGF20	OMIM:615721
HP:0001582	Redundant skin	54539	NDUFB11	OMIM:301021
HP:0001582	Redundant skin	523	ATP6V1A	ORPHA:357074
HP:0001582	Redundant skin	523	ATP6V1A	OMIM:617403
HP:0001582	Redundant skin	529	ATP6V1E1	ORPHA:357074
HP:0001582	Redundant skin	165	AEBP1	OMIM:618000
HP:0001582	Redundant skin	165	AEBP1	ORPHA:536532
HP:0001582	Redundant skin	8260	NAA10	OMIM:300855
HP:0001582	Redundant skin	113189	CHST14	ORPHA:2953
HP:0001582	Redundant skin	29940	DSE	ORPHA:2953
HP:0001582	Redundant skin	84168	ANTXR1	OMIM:230740
HP:0001582	Redundant skin	10516	FBLN5	ORPHA:90348
HP:0001582	Redundant skin	10516	FBLN5	ORPHA:90349
HP:0001582	Redundant skin	10516	FBLN5	OMIM:219100
HP:0001582	Redundant skin	5832	ALDH18A1	ORPHA:90348
HP:0001582	Redundant skin	4052	LTBP1	ORPHA:90349
HP:0001582	Redundant skin	30008	EFEMP2	ORPHA:90349
HP:0001582	Redundant skin	5831	PYCR1	OMIM:612940
HP:0001582	Redundant skin	5831	PYCR1	ORPHA:2078
HP:0001582	Redundant skin	92344	GORAB	ORPHA:2078
HP:0001582	Redundant skin	5604	MAP2K1	ORPHA:1340
HP:0001582	Redundant skin	5605	MAP2K2	ORPHA:1340
HP:0001582	Redundant skin	673	BRAF	ORPHA:1340
HP:0001582	Redundant skin	10225	CD96	ORPHA:1308
HP:0001582	Redundant skin	79087	ALG12	ORPHA:79324
HP:0001582	Redundant skin	64324	NSD1	ORPHA:3447
HP:0001582	Redundant skin	23512	SUZ12	ORPHA:3447
HP:0001582	Redundant skin	2146	EZH2	ORPHA:3447
HP:0001582	Redundant skin	3265	HRAS	ORPHA:3071
HP:0001582	Redundant skin	1281	COL3A1	ORPHA:286
HP:0001582	Redundant skin	9509	ADAMTS2	OMIM:225410
HP:0001582	Redundant skin	5167	ENPP1	ORPHA:758
HP:0001582	Redundant skin	368	ABCC6	ORPHA:758
HP:0001582	Redundant skin	2879	GPX4	OMIM:250220
HP:0001582	Redundant skin	84231	TRAF7	OMIM:618164
HP:0001582	Redundant skin	54496	PRMT7	OMIM:617157
HP:0001582	Redundant skin	55165	CEP55	OMIM:236500
HP:0001582	Redundant skin	6913	TBX15	ORPHA:93333
HP:0001582	Redundant skin	55593	OTUD5	OMIM:301056
HP:0001582	Redundant skin	9896	FIG4	OMIM:216340
HP:0001582	Redundant skin	9896	FIG4	ORPHA:3472
HP:0001582	Redundant skin	56945	MRPS22	OMIM:611719
HP:0001582	Redundant skin	79848	CSPP1	ORPHA:397715
HP:0001582	Redundant skin	9786	KIAA0586	ORPHA:397715
HP:0001582	Redundant skin	10682	EBP	OMIM:300960
HP:0001582	Redundant skin	55697	VAC14	ORPHA:3472
HP:0001582	Redundant skin	4716	NDUFB10	OMIM:619003
HP:0001582	Redundant skin	285590	SH3PXD2B	OMIM:249420
HP:0001582	Redundant skin	22884	WDR37	OMIM:618652
HP:0001582	Redundant skin	8621	CDK13	OMIM:617360
HP:0001582	Redundant skin	388015	RTL1	ORPHA:254528
HP:0001582	Redundant skin	388015	RTL1	ORPHA:96334
HP:0001582	Redundant skin	8788	DLK1	ORPHA:254528
HP:0001582	Redundant skin	8788	DLK1	ORPHA:96334
HP:0001582	Redundant skin	55384	MEG3	ORPHA:254528
HP:0001582	Redundant skin	55384	MEG3	ORPHA:96334
HP:0001582	Redundant skin	5277	PIGA	OMIM:300868
HP:0001582	Redundant skin	10801	SEPTIN9	ORPHA:2901
HP:0001582	Redundant skin	2263	FGFR2	OMIM:123790
HP:0001582	Redundant skin	51021	MRPS16	OMIM:610498
HP:0001582	Redundant skin	124997	WDR81	OMIM:617967
HP:0001582	Redundant skin	8216	LZTR1	OMIM:605275
HP:0001582	Redundant skin	2683	B4GALT1	ORPHA:79332
HP:0001582	Redundant skin	5189	PEX1	OMIM:214100
HP:0001582	Redundant skin	4882	NPR2	OMIM:602875
HP:0007392	Excessive wrinkled skin	6595	SMARCA2	OMIM:601358
HP:0007392	Excessive wrinkled skin	6595	SMARCA2	ORPHA:3051
HP:0007392	Excessive wrinkled skin	91949	COG7	OMIM:608779
HP:0007392	Excessive wrinkled skin	91949	COG7	ORPHA:79333
HP:0007392	Excessive wrinkled skin	1281	COL3A1	ORPHA:286
HP:0007392	Excessive wrinkled skin	1281	COL3A1	ORPHA:2500
HP:0007392	Excessive wrinkled skin	5295	PIK3R1	ORPHA:3163
HP:0007392	Excessive wrinkled skin	8367	H4C5	OMIM:619950
HP:0007392	Excessive wrinkled skin	5351	PLOD1	OMIM:225400
HP:0007392	Excessive wrinkled skin	23545	ATP6V0A2	ORPHA:357074
HP:0007392	Excessive wrinkled skin	23545	ATP6V0A2	ORPHA:2834
HP:0007392	Excessive wrinkled skin	23545	ATP6V0A2	OMIM:219200
HP:0007392	Excessive wrinkled skin	523	ATP6V1A	ORPHA:357074
HP:0007392	Excessive wrinkled skin	529	ATP6V1E1	ORPHA:357074
HP:0007392	Excessive wrinkled skin	2261	FGFR3	ORPHA:1860
HP:0007392	Excessive wrinkled skin	5831	PYCR1	OMIM:612940
HP:0007392	Excessive wrinkled skin	5831	PYCR1	OMIM:614438
HP:0007392	Excessive wrinkled skin	5604	MAP2K1	ORPHA:1340
HP:0007392	Excessive wrinkled skin	5605	MAP2K2	ORPHA:1340
HP:0007392	Excessive wrinkled skin	3845	KRAS	ORPHA:1340
HP:0007392	Excessive wrinkled skin	673	BRAF	ORPHA:1340
HP:0007392	Excessive wrinkled skin	673	BRAF	ORPHA:500
HP:0007392	Excessive wrinkled skin	5167	ENPP1	ORPHA:758
HP:0007392	Excessive wrinkled skin	368	ABCC6	ORPHA:758
HP:0007392	Excessive wrinkled skin	9719	ADAMTSL2	ORPHA:1901
HP:0007392	Excessive wrinkled skin	9509	ADAMTS2	ORPHA:1901
HP:0007392	Excessive wrinkled skin	51750	RTEL1	ORPHA:3322
HP:0007392	Excessive wrinkled skin	65057	ACD	ORPHA:3322
HP:0007392	Excessive wrinkled skin	5073	PARN	ORPHA:3322
HP:0007392	Excessive wrinkled skin	7015	TERT	ORPHA:3322
HP:0007392	Excessive wrinkled skin	26277	TINF2	ORPHA:3322
HP:0007392	Excessive wrinkled skin	1736	DKC1	ORPHA:3322
HP:0007392	Excessive wrinkled skin	5781	PTPN11	ORPHA:500
HP:0007392	Excessive wrinkled skin	5894	RAF1	ORPHA:500
HP:0007392	Excessive wrinkled skin	5728	PTEN	ORPHA:137608
HP:0007392	Excessive wrinkled skin	117581	TWIST2	ORPHA:920
HP:0007392	Excessive wrinkled skin	1080	CFTR	ORPHA:498359
HP:0007392	Excessive wrinkled skin	715	C1R	OMIM:130080
HP:0007392	Excessive wrinkled skin	22808	MRAS	OMIM:618499
HP:0007392	Excessive wrinkled skin	8216	LZTR1	OMIM:616564
HP:0007392	Excessive wrinkled skin	8216	LZTR1	OMIM:605275
HP:0007392	Excessive wrinkled skin	84627	ZNF469	OMIM:229200
HP:0007392	Excessive wrinkled skin	6016	RIT1	OMIM:615355
HP:0007392	Excessive wrinkled skin	2263	FGFR2	OMIM:123790
HP:0007392	Excessive wrinkled skin	9333	TGM5	ORPHA:263534
HP:0007392	Excessive wrinkled skin	1475	CSTA	ORPHA:263534
HP:0007392	Excessive wrinkled skin	79718	TBL1XR1	ORPHA:487825
HP:0001072	Thickened skin	9509	ADAMTS2	OMIM:225410
HP:0001072	Thickened skin	3767	KCNJ11	ORPHA:552
HP:0001072	Thickened skin	8462	KLF11	ORPHA:552
HP:0001072	Thickened skin	2645	GCK	ORPHA:552
HP:0001072	Thickened skin	26060	APPL1	ORPHA:552
HP:0001072	Thickened skin	640	BLK	ORPHA:552
HP:0001072	Thickened skin	1056	CEL	ORPHA:552
HP:0001072	Thickened skin	4760	NEUROD1	ORPHA:552
HP:0001072	Thickened skin	3651	PDX1	ORPHA:552
HP:0001072	Thickened skin	6833	ABCC8	ORPHA:552
HP:0001072	Thickened skin	5078	PAX4	ORPHA:552
HP:0001072	Thickened skin	3172	HNF4A	ORPHA:552
HP:0001072	Thickened skin	6927	HNF1A	ORPHA:552
HP:0001072	Thickened skin	3630	INS	ORPHA:552
HP:0001072	Thickened skin	699	BUB1	OMIM:620183
HP:0001072	Thickened skin	11198	SUPT16H	ORPHA:261229
HP:0001072	Thickened skin	57680	CHD8	ORPHA:261229
HP:0001072	Thickened skin	7840	ALMS1	ORPHA:64
HP:0001072	Thickened skin	7840	ALMS1	OMIM:203800
HP:0001072	Thickened skin	286053	NSMCE2	OMIM:617253
HP:0001072	Thickened skin	2261	FGFR3	OMIM:616482
HP:0001072	Thickened skin	2261	FGFR3	OMIM:612247
HP:0001072	Thickened skin	2261	FGFR3	ORPHA:93274
HP:0001072	Thickened skin	2261	FGFR3	ORPHA:93262
HP:0001072	Thickened skin	2261	FGFR3	OMIM:146000
HP:0001072	Thickened skin	2261	FGFR3	ORPHA:85165
HP:0001072	Thickened skin	2261	FGFR3	ORPHA:1860
HP:0001072	Thickened skin	2261	FGFR3	ORPHA:15
HP:0001072	Thickened skin	26580	BSCL2	OMIM:269700
HP:0001072	Thickened skin	26580	BSCL2	ORPHA:363400
HP:0001072	Thickened skin	26580	BSCL2	ORPHA:528
HP:0001072	Thickened skin	5122	PCSK1	ORPHA:71528
HP:0001072	Thickened skin	4160	MC4R	ORPHA:71529
HP:0001072	Thickened skin	3991	LIPE	ORPHA:435660
HP:0001072	Thickened skin	3991	LIPE	OMIM:615980
HP:0001072	Thickened skin	3290	HSD11B1	OMIM:614662
HP:0001072	Thickened skin	91461	PKDCC	OMIM:618821
HP:0001072	Thickened skin	63924	CIDEC	OMIM:615238
HP:0001072	Thickened skin	63924	CIDEC	ORPHA:435651
HP:0001072	Thickened skin	5443	POMC	ORPHA:71526
HP:0001072	Thickened skin	857	CAV1	OMIM:612526
HP:0001072	Thickened skin	857	CAV1	ORPHA:528
HP:0001072	Thickened skin	857	CAV1	OMIM:606721
HP:0001072	Thickened skin	5189	PEX1	ORPHA:3220
HP:0001072	Thickened skin	5190	PEX6	ORPHA:3220
HP:0001072	Thickened skin	2099	ESR1	ORPHA:785
HP:0001072	Thickened skin	2099	ESR1	OMIM:615363
HP:0001072	Thickened skin	27125	AFF4	ORPHA:444077
HP:0001072	Thickened skin	5346	PLIN1	ORPHA:280356
HP:0001072	Thickened skin	5346	PLIN1	OMIM:613877
HP:0001072	Thickened skin	5468	PPARG	OMIM:604367
HP:0001072	Thickened skin	5468	PPARG	ORPHA:79083
HP:0001072	Thickened skin	5468	PPARG	ORPHA:528
HP:0001072	Thickened skin	3728	JUP	ORPHA:34217
HP:0001072	Thickened skin	2263	FGFR2	ORPHA:1555
HP:0001072	Thickened skin	2263	FGFR2	OMIM:123790
HP:0001072	Thickened skin	2263	FGFR2	ORPHA:207
HP:0001072	Thickened skin	23187	PHLDB1	OMIM:620639
HP:0001072	Thickened skin	150	ADRA2A	OMIM:620679
HP:0001072	Thickened skin	8450	CUL4B	ORPHA:85293
HP:0001072	Thickened skin	9076	CLDN1	ORPHA:59303
HP:0001072	Thickened skin	11128	POLR3A	ORPHA:3455
HP:0001072	Thickened skin	7030	TFE3	OMIM:301066
HP:0001072	Thickened skin	5692	PSMB4	OMIM:617591
HP:0001072	Thickened skin	7518	XRCC4	OMIM:616541
HP:0001072	Thickened skin	6603	SMARCD2	OMIM:617475
HP:0001072	Thickened skin	1315	COPB1	OMIM:619255
HP:0001072	Thickened skin	64834	ELOVL1	OMIM:618527
HP:0001072	Thickened skin	208	AKT2	ORPHA:79085
HP:0001072	Thickened skin	2077	ERF	ORPHA:207
HP:0001072	Thickened skin	11145	PLAAT3	OMIM:620683
HP:0001072	Thickened skin	10555	AGPAT2	ORPHA:528
HP:0001072	Thickened skin	10555	AGPAT2	OMIM:608594
HP:0001072	Thickened skin	284119	CAVIN1	ORPHA:528
HP:0001072	Thickened skin	284119	CAVIN1	OMIM:613327
HP:0001072	Thickened skin	2353	FOS	ORPHA:528
HP:0001072	Thickened skin	3265	HRAS	ORPHA:3071
HP:0001072	Thickened skin	3265	HRAS	OMIM:218040
HP:0001072	Thickened skin	335	APOA1	OMIM:620657
HP:0001072	Thickened skin	5696	PSMB8	OMIM:256040
HP:0001072	Thickened skin	3720	JARID2	OMIM:620098
HP:0001072	Thickened skin	1588	CYP19A1	ORPHA:91
HP:0001072	Thickened skin	11005	SPINK5	ORPHA:634
HP:0001072	Thickened skin	3858	KRT10	ORPHA:312
HP:0001072	Thickened skin	3858	KRT10	OMIM:620150
HP:0001072	Thickened skin	3858	KRT10	OMIM:146600
HP:0001072	Thickened skin	3848	KRT1	ORPHA:312
HP:0001072	Thickened skin	3848	KRT1	ORPHA:79503
HP:0001072	Thickened skin	3848	KRT1	ORPHA:2199
HP:0001072	Thickened skin	8036	SHOC2	OMIM:607721
HP:0001072	Thickened skin	8216	LZTR1	OMIM:616564
HP:0001072	Thickened skin	8216	LZTR1	OMIM:605275
HP:0001072	Thickened skin	25923	ATL3	OMIM:615632
HP:0001072	Thickened skin	25923	ATL3	ORPHA:36386
HP:0001072	Thickened skin	100151683	RNU4ATAC	OMIM:210710
HP:0001072	Thickened skin	6016	RIT1	OMIM:615355
HP:0001072	Thickened skin	29926	GMPPA	OMIM:615510
HP:0001072	Thickened skin	673	BRAF	OMIM:115150
HP:0001072	Thickened skin	673	BRAF	ORPHA:1340
HP:0001072	Thickened skin	673	BRAF	OMIM:613707
HP:0001072	Thickened skin	4254	KITLG	OMIM:145250
HP:0001072	Thickened skin	9526	MPDU1	OMIM:609180
HP:0001072	Thickened skin	64682	ANAPC1	OMIM:618625
HP:0001072	Thickened skin	79755	ZNF750	OMIM:610227
HP:0001072	Thickened skin	56983	POGLUT1	ORPHA:79145
HP:0001072	Thickened skin	3852	KRT5	ORPHA:79145
HP:0001072	Thickened skin	3852	KRT5	ORPHA:79399
HP:0001072	Thickened skin	23509	POFUT1	ORPHA:79145
HP:0001072	Thickened skin	55851	PSENEN	ORPHA:79145
HP:0001072	Thickened skin	8626	TP63	OMIM:604292
HP:0001072	Thickened skin	8626	TP63	ORPHA:1896
HP:0001072	Thickened skin	2629	GBA1	OMIM:608013
HP:0001072	Thickened skin	79650	USB1	OMIM:604173
HP:0001072	Thickened skin	2706	GJB2	OMIM:602540
HP:0001072	Thickened skin	2706	GJB2	ORPHA:2202
HP:0001072	Thickened skin	2706	GJB2	ORPHA:494
HP:0001072	Thickened skin	2706	GJB2	OMIM:148210
HP:0001072	Thickened skin	3106	HLA-B	ORPHA:29207
HP:0001072	Thickened skin	831	CAST	OMIM:616295
HP:0001072	Thickened skin	23586	RIGI	OMIM:616298
HP:0001072	Thickened skin	1294	COL7A1	ORPHA:89843
HP:0001072	Thickened skin	1294	COL7A1	OMIM:131850
HP:0001072	Thickened skin	5167	ENPP1	OMIM:615522
HP:0001072	Thickened skin	63916	ELMO2	ORPHA:3019
HP:0001072	Thickened skin	4574	MT-TS1	ORPHA:2202
HP:0001072	Thickened skin	79644	SRD5A3	OMIM:612379
HP:0001072	Thickened skin	224	ALDH3A2	ORPHA:816
HP:0001072	Thickened skin	3861	KRT14	OMIM:131800
HP:0001072	Thickened skin	3861	KRT14	ORPHA:89838
HP:0001072	Thickened skin	3861	KRT14	ORPHA:79399
HP:0001072	Thickened skin	4758	NEU1	ORPHA:812
HP:0001072	Thickened skin	55780	ERMARD	ORPHA:75857
HP:0001072	Thickened skin	27032	ATP2C1	ORPHA:2841
HP:0001072	Thickened skin	284058	KANSL1	ORPHA:363958
HP:0001072	Thickened skin	284058	KANSL1	ORPHA:363965
HP:0001072	Thickened skin	50814	NSDHL	OMIM:308050
HP:0001072	Thickened skin	102	ADAM10	OMIM:615537
HP:0001072	Thickened skin	412	STS	ORPHA:281090
HP:0001072	Thickened skin	412	STS	ORPHA:461
HP:0001072	Thickened skin	5604	MAP2K1	ORPHA:1340
HP:0001072	Thickened skin	5604	MAP2K1	OMIM:615279
HP:0001072	Thickened skin	5605	MAP2K2	ORPHA:1340
HP:0001072	Thickened skin	3845	KRAS	ORPHA:1340
HP:0001072	Thickened skin	22845	DOLK	OMIM:610768
HP:0001072	Thickened skin	2717	GLA	ORPHA:324
HP:0001072	Thickened skin	6768	ST14	OMIM:602400
HP:0001072	Thickened skin	6898	TAT	ORPHA:28378
HP:0001072	Thickened skin	1475	CSTA	OMIM:607936
HP:0001072	Thickened skin	204219	CERS3	OMIM:615023
HP:0001072	Thickened skin	285848	PNPLA1	OMIM:615024
HP:0001072	Thickened skin	57511	COG6	OMIM:614576
HP:0001072	Thickened skin	23086	EXPH5	OMIM:615028
HP:0001072	Thickened skin	84818	IL17RC	ORPHA:1334
HP:0001072	Thickened skin	64581	CLEC7A	ORPHA:1334
HP:0001072	Thickened skin	23765	IL17RA	ORPHA:1334
HP:0001072	Thickened skin	10758	TRAF3IP2	ORPHA:1334
HP:0001072	Thickened skin	112744	IL17F	ORPHA:1334
HP:0001072	Thickened skin	151516	ASPRV1	OMIM:146750
HP:0001072	Thickened skin	151516	ASPRV1	ORPHA:313
HP:0001072	Thickened skin	1001	CDH3	ORPHA:1573
HP:0001072	Thickened skin	1832	DSP	OMIM:615821
HP:0001072	Thickened skin	6785	ELOVL4	OMIM:614457
HP:0001072	Thickened skin	6785	ELOVL4	OMIM:133190
HP:0001072	Thickened skin	2707	GJB3	ORPHA:317
HP:0001072	Thickened skin	2531	KDSR	ORPHA:317
HP:0001072	Thickened skin	2531	KDSR	OMIM:617526
HP:0001072	Thickened skin	127534	GJB4	ORPHA:317
HP:0001072	Thickened skin	9487	PIGL	ORPHA:3474
HP:0001072	Thickened skin	242	ALOX12B	ORPHA:313
HP:0001072	Thickened skin	242	ALOX12B	OMIM:242100
HP:0001072	Thickened skin	126410	CYP4F22	ORPHA:313
HP:0001072	Thickened skin	6820	SULT2B1	ORPHA:313
HP:0001072	Thickened skin	6820	SULT2B1	OMIM:617571
HP:0001072	Thickened skin	26154	ABCA12	ORPHA:313
HP:0001072	Thickened skin	26154	ABCA12	ORPHA:457
HP:0001072	Thickened skin	643418	LIPN	ORPHA:313
HP:0001072	Thickened skin	643418	LIPN	OMIM:613943
HP:0001072	Thickened skin	59344	ALOXE3	ORPHA:313
HP:0001072	Thickened skin	59344	ALOXE3	OMIM:242100
HP:0001072	Thickened skin	59344	ALOXE3	OMIM:606545
HP:0001072	Thickened skin	348938	NIPAL4	ORPHA:313
HP:0001072	Thickened skin	348938	NIPAL4	OMIM:612281
HP:0001072	Thickened skin	121214	SDR9C7	ORPHA:313
HP:0001072	Thickened skin	121214	SDR9C7	OMIM:617574
HP:0001072	Thickened skin	10558	SPTLC1	ORPHA:36386
HP:0001072	Thickened skin	9517	SPTLC2	ORPHA:36386
HP:0001072	Thickened skin	51062	ATL1	ORPHA:36386
HP:0001072	Thickened skin	54345	SOX18	OMIM:137940
HP:0001072	Thickened skin	80326	WNT10A	OMIM:224750
HP:0001072	Thickened skin	134218	DNAJC21	OMIM:617052
HP:0001072	Thickened skin	1041	CDSN	ORPHA:90368
HP:0001072	Thickened skin	121391	KRT74	ORPHA:90368
HP:0001072	Thickened skin	11012	KLK11	OMIM:620507
HP:0001072	Thickened skin	10013	HDAC6	ORPHA:163966
HP:0001072	Thickened skin	8379	MAD1L1	OMIM:620189
HP:0001072	Thickened skin	5184	PEPD	ORPHA:742
HP:0001072	Thickened skin	8517	IKBKG	ORPHA:464
HP:0001072	Thickened skin	8517	IKBKG	OMIM:308300
HP:0001072	Thickened skin	2312	FLG	ORPHA:461
HP:0001072	Thickened skin	3557	IL1RN	OMIM:612852
HP:0001072	Thickened skin	10654	PMVK	ORPHA:735
HP:0001072	Thickened skin	4598	MVK	ORPHA:735
HP:0001072	Thickened skin	2324	FLT4	ORPHA:79452
HP:0001072	Thickened skin	9780	PIEZO1	ORPHA:79452
HP:0001072	Thickened skin	285	ANGPT2	ORPHA:79452
HP:0001072	Thickened skin	57165	GJC2	ORPHA:79452
HP:0001072	Thickened skin	1303	COL12A1	ORPHA:610
HP:0001072	Thickened skin	1291	COL6A1	ORPHA:610
HP:0001072	Thickened skin	1292	COL6A2	ORPHA:610
HP:0001072	Thickened skin	1293	COL6A3	ORPHA:610
HP:0001072	Thickened skin	4014	LORICRIN	OMIM:604117
HP:0001072	Thickened skin	4014	LORICRIN	ORPHA:79395
HP:0001072	Thickened skin	57609	DIP2B	OMIM:136630
HP:0001072	Thickened skin	5422	POLA1	OMIM:301220
HP:0001072	Thickened skin	1736	DKC1	OMIM:301108
HP:0001072	Thickened skin	55612	FERMT1	ORPHA:2908
HP:0001072	Thickened skin	3889	KRT83	OMIM:617756
HP:0001072	Thickened skin	79977	GRHL2	OMIM:616029
HP:0001072	Thickened skin	4668	NAGA	ORPHA:79280
HP:0001072	Thickened skin	4668	NAGA	OMIM:609242
HP:0001072	Thickened skin	4668	NAGA	ORPHA:79279
HP:0001072	Thickened skin	10269	ZMPSTE24	ORPHA:1662
HP:0001072	Thickened skin	10269	ZMPSTE24	OMIM:275210
HP:0001072	Thickened skin	5271	SERPINB8	OMIM:617115
HP:0001072	Thickened skin	3868	KRT16	ORPHA:2199
HP:0001072	Thickened skin	3857	KRT9	ORPHA:2199
HP:0001072	Thickened skin	162	AP1B1	ORPHA:171851
HP:0001072	Thickened skin	1174	AP1S1	ORPHA:171851
HP:0001072	Thickened skin	7227	TRPS1	OMIM:190351
HP:0001072	Thickened skin	2744	GLS	OMIM:618339
HP:0001072	Thickened skin	29969	MDFIC	OMIM:620014
HP:0001072	Thickened skin	1493	CTLA4	ORPHA:2584
HP:0001072	Thickened skin	940	CD28	ORPHA:2584
HP:0001072	Thickened skin	7133	TNFRSF1B	ORPHA:2584
HP:0001072	Thickened skin	7424	VEGFC	OMIM:615907
HP:0001072	Thickened skin	55505	NOP10	OMIM:224230
HP:0001072	Thickened skin	55651	NHP2	OMIM:224230
HP:0001072	Thickened skin	1075	CTSC	OMIM:170650
HP:0001072	Thickened skin	1075	CTSC	OMIM:245000
HP:0001072	Thickened skin	1075	CTSC	ORPHA:678
HP:0001072	Thickened skin	3891	KRT85	OMIM:602032
HP:0001072	Thickened skin	10651	MTX2	OMIM:619127
HP:0001072	Thickened skin	5818	NECTIN1	ORPHA:3253
HP:0001072	Thickened skin	5818	NECTIN1	OMIM:225060
HP:0001072	Thickened skin	7015	TERT	OMIM:613989
HP:0001072	Thickened skin	9896	FIG4	OMIM:216340
HP:0001072	Thickened skin	667	DST	OMIM:615425
HP:0001072	Thickened skin	1308	COL17A1	ORPHA:79406
HP:0001072	Thickened skin	1308	COL17A1	ORPHA:79402
HP:0001072	Thickened skin	4312	MMP1	ORPHA:79408
HP:0001072	Thickened skin	1824	DSC2	OMIM:610476
HP:0001072	Thickened skin	3909	LAMA3	ORPHA:79402
HP:0001072	Thickened skin	3918	LAMC2	ORPHA:79402
HP:0001072	Thickened skin	3691	ITGB4	ORPHA:79402
HP:0001072	Thickened skin	23328	SASH1	OMIM:618373
HP:0001072	Thickened skin	1474	CST6	OMIM:618535
HP:0001072	Thickened skin	25959	KANK2	OMIM:616099
HP:0001072	Thickened skin	57192	MCOLN1	ORPHA:578
HP:0001072	Thickened skin	80169	CTC1	ORPHA:1775
HP:0001072	Thickened skin	26277	TINF2	ORPHA:1775
HP:0001072	Thickened skin	55135	WRAP53	ORPHA:1775
HP:0001072	Thickened skin	51750	RTEL1	ORPHA:1775
HP:0001072	Thickened skin	4869	NPM1	ORPHA:1775
HP:0001072	Thickened skin	7012	TERC	ORPHA:1775
HP:0001072	Thickened skin	5073	PARN	ORPHA:1775
HP:0001072	Thickened skin	7298	TYMS	ORPHA:1775
HP:0001072	Thickened skin	7286	TUFT1	OMIM:620415
HP:0001072	Thickened skin	388698	FLG2	OMIM:618084
HP:0001072	Thickened skin	3939	LDHA	ORPHA:284426
HP:0001072	Thickened skin	79651	RHBDF2	OMIM:148500
HP:0001072	Thickened skin	26525	IL36RN	OMIM:614204
HP:0001072	Thickened skin	2074	ERCC6	OMIM:278800
HP:0001072	Thickened skin	51371	POMP	OMIM:601952
HP:0001072	Thickened skin	54795	TRPM4	OMIM:618531
HP:0001072	Thickened skin	22861	NLRP1	OMIM:615225
HP:0001072	Thickened skin	4597	MVD	OMIM:614714
HP:0001072	Thickened skin	1798	DPAGT1	ORPHA:86309
HP:0001072	Thickened skin	2200	FBN1	OMIM:614185
HP:0001072	Thickened skin	2200	FBN1	OMIM:608328
HP:0001072	Thickened skin	2200	FBN1	ORPHA:2833
HP:0001072	Thickened skin	2200	FBN1	ORPHA:3449
HP:0001072	Thickened skin	2200	FBN1	OMIM:102370
HP:0001072	Thickened skin	4000	LMNA	OMIM:619793
HP:0001072	Thickened skin	3643	INSR	ORPHA:508
HP:0001072	Thickened skin	118429	ANTXR2	ORPHA:2176
HP:0001072	Thickened skin	118429	ANTXR2	OMIM:228600
HP:0001072	Thickened skin	285590	SH3PXD2B	ORPHA:137834
HP:0001072	Thickened skin	6023	RMRP	ORPHA:39041
HP:0001072	Thickened skin	55636	CHD7	ORPHA:39041
HP:0001072	Thickened skin	3981	LIG4	ORPHA:39041
HP:0001072	Thickened skin	5896	RAG1	ORPHA:39041
HP:0001072	Thickened skin	5896	RAG1	OMIM:603554
HP:0001072	Thickened skin	5897	RAG2	ORPHA:39041
HP:0001072	Thickened skin	5897	RAG2	OMIM:603554
HP:0001072	Thickened skin	64421	DCLRE1C	ORPHA:39041
HP:0001072	Thickened skin	64421	DCLRE1C	OMIM:603554
HP:0001072	Thickened skin	100	ADA	ORPHA:39041
HP:0001072	Thickened skin	3575	IL7R	ORPHA:39041
HP:0001072	Thickened skin	3561	IL2RG	ORPHA:39041
HP:0001072	Thickened skin	9719	ADAMTSL2	OMIM:231050
HP:0001072	Thickened skin	411	ARSB	OMIM:253200
HP:0001072	Thickened skin	79092	CARD14	ORPHA:2897
HP:0001072	Thickened skin	207	AKT1	ORPHA:744
HP:0001072	Thickened skin	10804	GJB6	ORPHA:189
HP:0001072	Thickened skin	284252	KCTD1	OMIM:181270
HP:0001072	Thickened skin	4089	SMAD4	OMIM:139210
HP:0001072	Thickened skin	4089	SMAD4	ORPHA:2588
HP:0001072	Thickened skin	5159	PDGFRB	OMIM:601812
HP:0001072	Thickened skin	7051	TGM1	ORPHA:100976
HP:0001072	Thickened skin	3832	KIF11	ORPHA:2526
HP:0001072	Thickened skin	65082	VPS33A	OMIM:617303
HP:0001072	Thickened skin	65082	VPS33A	ORPHA:505248
HP:0001072	Thickened skin	51360	MBTPS2	ORPHA:659
HP:0001072	Thickened skin	162514	TRPV3	ORPHA:659
HP:0001072	Thickened skin	64065	PERP	ORPHA:659
HP:0001072	Thickened skin	488	ATP2A2	ORPHA:218
HP:0001072	Thickened skin	1277	COL1A1	ORPHA:31112
HP:0001072	Thickened skin	5155	PDGFB	ORPHA:31112
HP:0001072	Thickened skin	2720	GLB1	ORPHA:79255
HP:0001072	Thickened skin	3815	KIT	ORPHA:79455
HP:0001072	Thickened skin	1893	ECM1	ORPHA:530
HP:0001072	Thickened skin	1893	ECM1	OMIM:247100
HP:0001072	Thickened skin	79158	GNPTAB	ORPHA:576
HP:0001072	Thickened skin	79158	GNPTAB	ORPHA:423461
HP:0001072	Thickened skin	79158	GNPTAB	OMIM:252600
HP:0001072	Thickened skin	7390	UROS	OMIM:263700
HP:0001072	Thickened skin	7390	UROS	ORPHA:79277
HP:0001072	Thickened skin	6578	SLCO2A1	OMIM:614441
HP:0001072	Thickened skin	6578	SLCO2A1	OMIM:167100
HP:0001072	Thickened skin	6578	SLCO2A1	ORPHA:2796
HP:0001072	Thickened skin	170691	ADAMTS17	ORPHA:3449
HP:0001072	Thickened skin	4053	LTBP2	ORPHA:3449
HP:0001072	Thickened skin	81794	ADAMTS10	ORPHA:3449
HP:0001072	Thickened skin	81794	ADAMTS10	OMIM:277600
HP:0001072	Thickened skin	5297	PI4KA	ORPHA:436252
HP:0001072	Thickened skin	57217	TTC7A	ORPHA:436252
HP:0001072	Thickened skin	6261	RYR1	ORPHA:324581
HP:0001072	Thickened skin	51574	LARP7	ORPHA:319671
HP:0001072	Thickened skin	83550	GPR101	ORPHA:963
HP:0001072	Thickened skin	9049	AIP	ORPHA:963
HP:0001072	Thickened skin	3248	HPGD	ORPHA:2796
HP:0001072	Thickened skin	4313	MMP2	OMIM:259600
HP:0001072	Thickened skin	7389	UROD	ORPHA:95159
HP:0001072	Thickened skin	538	ATP7A	ORPHA:565
HP:0001072	Thickened skin	203068	TUBB	ORPHA:2505
HP:0001072	Thickened skin	10982	MAPRE2	ORPHA:2505
HP:0001072	Thickened skin	5498	PPOX	ORPHA:79473
HP:0001072	Thickened skin	4853	NOTCH2	ORPHA:955
HP:0001072	Thickened skin	91039	DPP9	OMIM:620331
HP:0001072	Thickened skin	7299	TYR	ORPHA:79431
HP:0001072	Thickened skin	7299	TYR	ORPHA:79434
HP:0001072	Thickened skin	2623	GATA1	ORPHA:79277
HP:0001072	Thickened skin	3425	IDUA	OMIM:607015
HP:0001072	Thickened skin	4763	NF1	ORPHA:97685
HP:0001072	Thickened skin	56916	SMARCAD1	ORPHA:1658
HP:0001072	Thickened skin	2068	ERCC2	ORPHA:910
HP:0001072	Thickened skin	7507	XPA	ORPHA:910
HP:0001072	Thickened skin	2071	ERCC3	ORPHA:910
HP:0001072	Thickened skin	7508	XPC	ORPHA:910
HP:0001072	Thickened skin	1643	DDB2	ORPHA:910
HP:0001072	Thickened skin	2072	ERCC4	ORPHA:910
HP:0001072	Thickened skin	2073	ERCC5	ORPHA:910
HP:0001072	Thickened skin	51151	SLC45A2	ORPHA:79435
HP:0001072	Thickened skin	4054	LTBP3	OMIM:617809
HP:0001072	Thickened skin	10483	SEC23B	ORPHA:201
HP:0001072	Thickened skin	6390	SDHB	ORPHA:201
HP:0001072	Thickened skin	6392	SDHD	ORPHA:201
HP:0001072	Thickened skin	6391	SDHC	ORPHA:201
HP:0001072	Thickened skin	205717	USF3	ORPHA:201
HP:0001072	Thickened skin	5290	PIK3CA	ORPHA:201
HP:0001072	Thickened skin	100144748	KLLN	ORPHA:201
HP:0001072	Thickened skin	2517	FUCA1	ORPHA:349
HP:0001072	Thickened skin	145264	SERPINA12	ORPHA:86923
HP:0001072	Thickened skin	362	AQP5	OMIM:600231
HP:0001072	Thickened skin	362	AQP5	ORPHA:2337
HP:0001072	Thickened skin	54800	KLHL24	OMIM:617294
HP:0001072	Thickened skin	3892	KRT86	OMIM:158000
HP:0001072	Thickened skin	3887	KRT81	OMIM:158000
HP:0001072	Thickened skin	3122	HLA-DRA	ORPHA:505
HP:0001072	Thickened skin	51099	ABHD5	ORPHA:98907
HP:0001072	Thickened skin	51099	ABHD5	OMIM:275630
HP:0001072	Thickened skin	51163	DBR1	OMIM:620510
HP:0001072	Thickened skin	3872	KRT17	ORPHA:2309
HP:0001072	Thickened skin	3853	KRT6A	ORPHA:2309
HP:0001072	Thickened skin	3854	KRT6B	ORPHA:2309
HP:0001072	Thickened skin	147409	DSG4	ORPHA:573
HP:0001072	Thickened skin	147409	DSG4	OMIM:607903
HP:0001072	Thickened skin	5317	PKP1	ORPHA:158668
HP:0001072	Thickened skin	5351	PLOD1	OMIM:225400
HP:0001072	Thickened skin	55033	FKBP14	ORPHA:300179
HP:0001072	Thickened skin	55033	FKBP14	OMIM:614557
HP:0001072	Thickened skin	4035	LRP1	ORPHA:79100
HP:0001072	Thickened skin	6720	SREBF1	OMIM:158310
HP:0001072	Thickened skin	9325	TRIP4	OMIM:617066
HP:0001072	Thickened skin	9325	TRIP4	ORPHA:486815
HP:0001072	Thickened skin	4921	DDR2	OMIM:618175
HP:0001072	Thickened skin	5950	RBP4	OMIM:615147
HP:0001072	Thickened skin	1825	DSC3	OMIM:613102
HP:0001072	Thickened skin	5339	PLEC	OMIM:616487
HP:0001072	Thickened skin	3914	LAMB3	OMIM:226650
HP:0001072	Thickened skin	286887	KRT6C	OMIM:615735
HP:0001072	Thickened skin	60684	TRAPPC11	ORPHA:869
HP:0001072	Thickened skin	8086	AAAS	ORPHA:869
HP:0001072	Thickened skin	10682	EBP	ORPHA:401973
HP:0001072	Thickened skin	10682	EBP	ORPHA:35173
HP:0001072	Thickened skin	10682	EBP	OMIM:300960
HP:0001072	Thickened skin	4047	LSS	ORPHA:2850
HP:0001072	Thickened skin	4047	LSS	OMIM:618840
HP:0001072	Thickened skin	197	AHSG	ORPHA:2850
HP:0001072	Thickened skin	3694	ITGB6	ORPHA:2850
HP:0001072	Thickened skin	1120	CHKB	OMIM:602541
HP:0001072	Thickened skin	57104	PNPLA2	ORPHA:565612
HP:0001072	Thickened skin	57104	PNPLA2	OMIM:610717
HP:0001072	Thickened skin	57104	PNPLA2	ORPHA:98908
HP:0001072	Thickened skin	5191	PEX7	OMIM:266500
HP:0001072	Thickened skin	5191	PEX7	OMIM:215100
HP:0001072	Thickened skin	5191	PEX7	OMIM:614879
HP:0001072	Thickened skin	5191	PEX7	ORPHA:773
HP:0001072	Thickened skin	5264	PHYH	OMIM:266500
HP:0001072	Thickened skin	5264	PHYH	ORPHA:773
HP:0001072	Thickened skin	9342	SNAP29	ORPHA:66631
HP:0001072	Thickened skin	9342	SNAP29	OMIM:609528
HP:0001072	Thickened skin	128486	FITM2	OMIM:618635
HP:0001072	Thickened skin	1287	COL4A5	OMIM:301050
HP:0001072	Thickened skin	9837	GINS1	OMIM:617827
HP:0001072	Thickened skin	79631	EFL1	ORPHA:811
HP:0001072	Thickened skin	51119	SBDS	ORPHA:811
HP:0001072	Thickened skin	3849	KRT2	ORPHA:455
HP:0001072	Thickened skin	114548	NLRP3	ORPHA:575
HP:0001072	Thickened skin	54453	RIN2	OMIM:613075
HP:0001072	Thickened skin	4141	MARS1	OMIM:619692
HP:0001072	Thickened skin	10999	SLC27A4	ORPHA:88621
HP:0001072	Thickened skin	29968	PSAT1	ORPHA:284417
HP:0001072	Thickened skin	29968	PSAT1	OMIM:616038
HP:0001072	Thickened skin	26276	VPS33B	OMIM:208085
HP:0001072	Thickened skin	26276	VPS33B	OMIM:620009
HP:0001072	Thickened skin	5277	PIGA	OMIM:300868
HP:0001072	Thickened skin	5277	PIGA	OMIM:301072
HP:0001072	Thickened skin	146206	CARMIL2	OMIM:618131
HP:0001072	Thickened skin	3560	IL2RB	OMIM:618495
HP:0001072	Thickened skin	2783	GNB2	OMIM:619503
HP:0001072	Thickened skin	63894	VIPAS39	OMIM:613404
HP:0001072	Thickened skin	26227	PHGDH	OMIM:256520
HP:0001072	Thickened skin	8879	SGPL1	OMIM:617575
HP:0001072	Thickened skin	91754	NEK9	ORPHA:64754
HP:0001072	Thickened skin	6897	TARS1	OMIM:618546
HP:0001072	Thickened skin	6897	TARS1	ORPHA:33364
HP:0001072	Thickened skin	10283	CWC27	OMIM:250410
HP:0001072	Thickened skin	10283	CWC27	ORPHA:166035
HP:0001072	Thickened skin	4893	NRAS	OMIM:163200
HP:0001072	Thickened skin	285362	SUMF1	OMIM:272200
HP:0001072	Thickened skin	285362	SUMF1	ORPHA:585
HP:0001072	Thickened skin	57152	SLURP1	ORPHA:87503
HP:0001072	Thickened skin	57152	SLURP1	OMIM:248300
HP:0001072	Thickened skin	6786	STIM1	OMIM:185070
HP:0001072	Thickened skin	6786	STIM1	ORPHA:3204
HP:0001072	Thickened skin	55670	PEX26	ORPHA:772
HP:0001072	Thickened skin	5824	PEX19	ORPHA:772
HP:0001072	Thickened skin	5828	PEX2	ORPHA:772
HP:0001072	Thickened skin	8504	PEX3	ORPHA:772
HP:0001072	Thickened skin	9409	PEX16	ORPHA:772
HP:0001072	Thickened skin	8799	PEX11B	ORPHA:772
HP:0001072	Thickened skin	5830	PEX5	ORPHA:772
HP:0001072	Thickened skin	5193	PEX12	ORPHA:772
HP:0001072	Thickened skin	5194	PEX13	ORPHA:772
HP:0001072	Thickened skin	5195	PEX14	ORPHA:772
HP:0001072	Thickened skin	5192	PEX10	ORPHA:772
HP:0001072	Thickened skin	415	ARSL	OMIM:302950
HP:0001072	Thickened skin	10848	PPP1R13L	OMIM:620519
HP:0001072	Thickened skin	2961	GTF2E2	OMIM:616943
HP:0001072	Thickened skin	2961	GTF2E2	ORPHA:33364
HP:0001072	Thickened skin	404672	GTF2H5	ORPHA:33364
HP:0001072	Thickened skin	404672	GTF2H5	OMIM:616395
HP:0001072	Thickened skin	833	CARS1	ORPHA:33364
HP:0001072	Thickened skin	7737	RNF113A	ORPHA:33364
HP:0001072	Thickened skin	136647	MPLKIP	ORPHA:33364
HP:0001072	Thickened skin	16	AARS1	ORPHA:33364
HP:0001072	Thickened skin	64127	NOD2	ORPHA:90340
HP:0001072	Thickened skin	2273	FHL1	ORPHA:98863
HP:0001072	Thickened skin	2010	EMD	ORPHA:98863
HP:0001072	Thickened skin	84876	ORAI1	ORPHA:3204
HP:0001072	Thickened skin	9333	TGM5	ORPHA:263534
HP:0001072	Thickened skin	6595	SMARCA2	OMIM:601358
HP:0001072	Thickened skin	6307	MSMO1	OMIM:616834
HP:0001072	Thickened skin	1828	DSG1	OMIM:615508
HP:0001072	Thickened skin	2260	FGFR1	ORPHA:478
HP:0001072	Thickened skin	10371	SEMA3A	ORPHA:478
HP:0001072	Thickened skin	81848	SPRY4	ORPHA:478
HP:0001072	Thickened skin	23767	FLRT3	ORPHA:478
HP:0001072	Thickened skin	128674	PROKR2	ORPHA:478
HP:0001072	Thickened skin	79625	NDNF	ORPHA:478
HP:0001072	Thickened skin	2253	FGF8	ORPHA:478
HP:0001072	Thickened skin	389549	FEZF1	ORPHA:478
HP:0001072	Thickened skin	1630	DCC	ORPHA:478
HP:0001072	Thickened skin	3730	ANOS1	ORPHA:478
HP:0001072	Thickened skin	54756	IL17RD	ORPHA:478
HP:0001072	Thickened skin	6663	SOX10	ORPHA:478
HP:0001072	Thickened skin	285025	CCDC141	ORPHA:478
HP:0001072	Thickened skin	60675	PROK2	ORPHA:478
HP:0001072	Thickened skin	1848	DUSP6	ORPHA:478
HP:0001072	Thickened skin	6870	TACR3	ORPHA:478
HP:0001072	Thickened skin	55717	WDR11	ORPHA:478
HP:0001072	Thickened skin	9394	HS6ST1	ORPHA:478
HP:0001072	Thickened skin	8820	HESX1	ORPHA:478
HP:0001072	Thickened skin	8822	FGF17	ORPHA:478
HP:0001072	Thickened skin	79188	TMEM43	ORPHA:98853
HP:0001072	Thickened skin	23345	SYNE1	ORPHA:98853
HP:0001072	Thickened skin	23224	SYNE2	ORPHA:98853
HP:0001072	Thickened skin	55906	ZC4H2	OMIM:314580
HP:0001072	Thickened skin	81607	NECTIN4	OMIM:613573
HP:0001072	Thickened skin	2697	GJA1	ORPHA:1010
HP:0001072	Thickened skin	284654	RSPO1	OMIM:610644
HP:0001072	Thickened skin	3930	LBR	ORPHA:779
HP:0001072	Thickened skin	3930	LBR	OMIM:613471
HP:0001072	Thickened skin	6775	STAT4	OMIM:620443
HP:0001072	Thickened skin	1080	CFTR	ORPHA:498359
HP:0001072	Thickened skin	8710	SERPINB7	OMIM:615598
HP:0001072	Thickened skin	79719	AAGAB	OMIM:148600
HP:0001072	Thickened skin	79719	AAGAB	ORPHA:79501
HP:0001072	Thickened skin	7373	COL14A1	ORPHA:79501
HP:0001072	Thickened skin	2050	EPHB4	ORPHA:90186
HP:0001072	Thickened skin	3860	KRT13	OMIM:615785
HP:0001072	Thickened skin	126695	KDF1	OMIM:617337
HP:0001072	Thickened skin	1410	CRYAB	OMIM:608810
HP:0001072	Thickened skin	23592	LEMD3	ORPHA:166119
HP:0001072	Thickened skin	55315	SLC29A3	ORPHA:168569
HP:0001072	Thickened skin	5053	PAH	OMIM:261600
HP:0001072	Thickened skin	7486	WRN	OMIM:277700
HP:0001072	Thickened skin	1188	CLCNKB	ORPHA:358
HP:0001072	Thickened skin	6559	SLC12A3	ORPHA:358
HP:0001072	Thickened skin	3514	IGKC	ORPHA:183675
HP:0001072	Thickened skin	3501	IGHG2	ORPHA:183675
HP:0001072	Thickened skin	5728	PTEN	OMIM:158350
HP:0001072	Thickened skin	5728	PTEN	ORPHA:65285
HP:0001072	Thickened skin	84946	LTV1	OMIM:620199
HP:0001072	Thickened skin	267010	RNU12	OMIM:603116
HP:0001072	Thickened skin	267010	RNU12	ORPHA:85199
HP:0001072	Thickened skin	63910	SLC17A9	OMIM:616063
HP:0001072	Thickened skin	63910	SLC17A9	ORPHA:79152
HP:0001072	Thickened skin	9401	RECQL4	ORPHA:221016
HP:0001072	Thickened skin	2224	FDPS	OMIM:616631
HP:0001072	Thickened skin	2224	FDPS	ORPHA:79152
HP:0007394	Prominent superficial blood vessels	5295	PIK3R1	OMIM:269880
HP:0007394	Prominent superficial blood vessels	716	C1S	OMIM:617174
HP:0007394	Prominent superficial blood vessels	165	AEBP1	OMIM:618000
HP:0007394	Prominent superficial blood vessels	29957	SLC25A24	OMIM:612289
HP:0007394	Prominent superficial blood vessels	92579	G6PC3	OMIM:612541
HP:0007394	Prominent superficial blood vessels	8815	BANF1	OMIM:614008
HP:0007394	Prominent superficial blood vessels	5831	PYCR1	OMIM:612940
HP:0007394	Prominent superficial blood vessels	5831	PYCR1	OMIM:614438
HP:0007394	Prominent superficial blood vessels	5468	PPARG	ORPHA:528
HP:0007394	Prominent superficial blood vessels	5468	PPARG	OMIM:604367
HP:0007394	Prominent superficial blood vessels	10555	AGPAT2	ORPHA:528
HP:0007394	Prominent superficial blood vessels	284119	CAVIN1	ORPHA:528
HP:0007394	Prominent superficial blood vessels	26580	BSCL2	ORPHA:528
HP:0007394	Prominent superficial blood vessels	2353	FOS	ORPHA:528
HP:0007394	Prominent superficial blood vessels	857	CAV1	ORPHA:528
HP:0007394	Prominent superficial blood vessels	25839	COG4	OMIM:618150
HP:0007394	Prominent superficial blood vessels	715	C1R	OMIM:130080
HP:0007394	Prominent superficial blood vessels	221496	LEMD2	OMIM:619322
HP:0007394	Prominent superficial blood vessels	5159	PDGFRB	OMIM:601812
HP:0007394	Prominent superficial blood vessels	2324	FLT4	OMIM:153100
HP:0007394	Prominent superficial blood vessels	91252	SLC39A13	OMIM:612350
HP:0007394	Prominent superficial blood vessels	529	ATP6V1E1	OMIM:617402
HP:0007394	Prominent superficial blood vessels	84919	PPP1R15B	OMIM:616817
HP:0007394	Prominent superficial blood vessels	7424	VEGFC	OMIM:615907
HP:0007394	Prominent superficial blood vessels	84168	ANTXR1	OMIM:230740
HP:0007394	Prominent superficial blood vessels	9791	PTDSS1	OMIM:151050
HP:0007394	Prominent superficial blood vessels	11128	POLR3A	OMIM:264090
HP:0007394	Prominent superficial blood vessels	11128	POLR3A	ORPHA:3455
HP:0007394	Prominent superficial blood vessels	4000	LMNA	ORPHA:740
HP:0007394	Prominent superficial blood vessels	4000	LMNA	OMIM:151660
HP:0007394	Prominent superficial blood vessels	10269	ZMPSTE24	ORPHA:740
HP:0007394	Prominent superficial blood vessels	10269	ZMPSTE24	OMIM:275210
HP:0007394	Prominent superficial blood vessels	5921	RASA1	ORPHA:90307
HP:0007394	Prominent superficial blood vessels	5832	ALDH18A1	OMIM:219150
HP:0007394	Prominent superficial blood vessels	10526	IPO8	OMIM:619472
HP:0007394	Prominent superficial blood vessels	23545	ATP6V0A2	ORPHA:2834
HP:0007394	Prominent superficial blood vessels	23545	ATP6V0A2	ORPHA:357074
HP:0007394	Prominent superficial blood vessels	523	ATP6V1A	ORPHA:357074
HP:0007394	Prominent superficial blood vessels	2859	GPR35	ORPHA:171
HP:0007394	Prominent superficial blood vessels	10507	SEMA4D	ORPHA:171
HP:0007394	Prominent superficial blood vessels	4485	MST1	ORPHA:171
HP:0007394	Prominent superficial blood vessels	6925	TCF4	ORPHA:171
HP:0012690	T2 hypointense thalamus	54209	TREM2	OMIM:618193
HP:0012690	T2 hypointense thalamus	2512	FTL	ORPHA:157846
HP:0012690	T2 hypointense thalamus	2055	CLN8	ORPHA:1947
HP:0012691	Focal T2 hypointense thalamic lesion	8314	BAP1	ORPHA:2495
HP:0012691	Focal T2 hypointense thalamic lesion	4771	NF2	ORPHA:2495
HP:0012691	Focal T2 hypointense thalamic lesion	6598	SMARCB1	ORPHA:2495
HP:0012691	Focal T2 hypointense thalamic lesion	5155	PDGFB	ORPHA:2495
HP:0012691	Focal T2 hypointense thalamic lesion	84231	TRAF7	ORPHA:2495
HP:0012691	Focal T2 hypointense thalamic lesion	6608	SMO	ORPHA:2495
HP:0012691	Focal T2 hypointense thalamic lesion	207	AKT1	ORPHA:2495
HP:0012691	Focal T2 hypointense thalamic lesion	5290	PIK3CA	ORPHA:2495
HP:0012691	Focal T2 hypointense thalamic lesion	7015	TERT	ORPHA:2495
HP:0012691	Focal T2 hypointense thalamic lesion	51684	SUFU	ORPHA:2495
HP:0012691	Focal T2 hypointense thalamic lesion	6605	SMARCE1	ORPHA:2495
HP:0012692	Focal T2 hyperintense thalamic lesion	5428	POLG	ORPHA:254881
HP:0012692	Focal T2 hyperintense thalamic lesion	6342	SCP2	OMIM:613724
HP:0012692	Focal T2 hyperintense thalamic lesion	1352	COX10	OMIM:619046
HP:0012692	Focal T2 hyperintense thalamic lesion	55037	PTCD3	OMIM:619057
HP:0012693	Abnormal thalamic size	23265	EXOC7	OMIM:619072
HP:0012693	Abnormal thalamic size	29925	GMPPB	ORPHA:370959
HP:0012693	Abnormal thalamic size	79147	FKRP	ORPHA:370959
HP:0012693	Abnormal thalamic size	29954	POMT2	ORPHA:370959
HP:0012693	Abnormal thalamic size	84197	POMK	ORPHA:370959
HP:0012693	Abnormal thalamic size	55624	POMGNT1	ORPHA:370959
HP:0012693	Abnormal thalamic size	10585	POMT1	ORPHA:370959
HP:0012693	Abnormal thalamic size	9440	MED17	OMIM:613668
HP:0012693	Abnormal thalamic size	170825	GSX2	OMIM:618646
HP:0012693	Abnormal thalamic size	6513	SLC2A1	ORPHA:168577
HP:0012695	Decreased thalamic volume	23265	EXOC7	OMIM:619072
HP:0012695	Decreased thalamic volume	29925	GMPPB	ORPHA:370959
HP:0012695	Decreased thalamic volume	79147	FKRP	ORPHA:370959
HP:0012695	Decreased thalamic volume	29954	POMT2	ORPHA:370959
HP:0012695	Decreased thalamic volume	84197	POMK	ORPHA:370959
HP:0012695	Decreased thalamic volume	55624	POMGNT1	ORPHA:370959
HP:0012695	Decreased thalamic volume	10585	POMT1	ORPHA:370959
HP:0012695	Decreased thalamic volume	9440	MED17	OMIM:613668
HP:0012695	Decreased thalamic volume	170825	GSX2	OMIM:618646
HP:0012695	Decreased thalamic volume	6513	SLC2A1	ORPHA:168577
HP:0012696	Abnormal thalamic MRI signal intensity	54209	TREM2	OMIM:618193
HP:0012696	Abnormal thalamic MRI signal intensity	2055	CLN8	ORPHA:1947
HP:0012696	Abnormal thalamic MRI signal intensity	8314	BAP1	ORPHA:2495
HP:0012696	Abnormal thalamic MRI signal intensity	4771	NF2	ORPHA:2495
HP:0012696	Abnormal thalamic MRI signal intensity	6598	SMARCB1	ORPHA:2495
HP:0012696	Abnormal thalamic MRI signal intensity	5155	PDGFB	ORPHA:2495
HP:0012696	Abnormal thalamic MRI signal intensity	84231	TRAF7	ORPHA:2495
HP:0012696	Abnormal thalamic MRI signal intensity	6608	SMO	ORPHA:2495
HP:0012696	Abnormal thalamic MRI signal intensity	207	AKT1	ORPHA:2495
HP:0012696	Abnormal thalamic MRI signal intensity	5290	PIK3CA	ORPHA:2495
HP:0012696	Abnormal thalamic MRI signal intensity	7015	TERT	ORPHA:2495
HP:0012696	Abnormal thalamic MRI signal intensity	51684	SUFU	ORPHA:2495
HP:0012696	Abnormal thalamic MRI signal intensity	6605	SMARCE1	ORPHA:2495
HP:0012696	Abnormal thalamic MRI signal intensity	6342	SCP2	OMIM:613724
HP:0012696	Abnormal thalamic MRI signal intensity	1352	COX10	OMIM:619046
HP:0012696	Abnormal thalamic MRI signal intensity	55037	PTCD3	OMIM:619057
HP:0012696	Abnormal thalamic MRI signal intensity	2512	FTL	ORPHA:157846
HP:0012696	Abnormal thalamic MRI signal intensity	91574	MTRFR	ORPHA:254930
HP:0012696	Abnormal thalamic MRI signal intensity	3074	HEXB	ORPHA:309155
HP:0012696	Abnormal thalamic MRI signal intensity	56947	MFF	ORPHA:485421
HP:0012696	Abnormal thalamic MRI signal intensity	2670	GFAP	ORPHA:363717
HP:0012696	Abnormal thalamic MRI signal intensity	1356	CP	ORPHA:48818
HP:0012696	Abnormal thalamic MRI signal intensity	84705	GTPBP3	ORPHA:444013
HP:0012696	Abnormal thalamic MRI signal intensity	5428	POLG	ORPHA:70595
HP:0012696	Abnormal thalamic MRI signal intensity	56652	TWNK	ORPHA:70595
HP:0012697	Small basal ganglia	10381	TUBB3	ORPHA:300570
HP:0012697	Small basal ganglia	23230	VPS13A	ORPHA:2388
HP:0012697	Small basal ganglia	54187	NANS	OMIM:610442
HP:0012697	Small basal ganglia	93627	TBCK	OMIM:616900
HP:0012697	Small basal ganglia	4508	MT-ATP6	ORPHA:225154
HP:0012697	Small basal ganglia	23636	NUP62	ORPHA:225154
HP:0012697	Small basal ganglia	53371	NUP54	ORPHA:225154
HP:0012697	Small basal ganglia	103	ADAR	ORPHA:225154
HP:0012697	Small basal ganglia	80704	SLC19A3	ORPHA:263410
HP:0012697	Small basal ganglia	26275	HIBCH	ORPHA:88639
HP:0012697	Small basal ganglia	2232	FDXR	ORPHA:543470
HP:0012697	Small basal ganglia	1528	CYB5A	ORPHA:621
HP:0012697	Small basal ganglia	1727	CYB5R3	ORPHA:621
HP:0012697	Small basal ganglia	8506	CNTNAP1	OMIM:616286
HP:0012698	Cerebellar gliosis	91137	SLC25A46	OMIM:616505
HP:0012698	Cerebellar gliosis	9361	LONP1	ORPHA:79243
HP:0012698	Cerebellar gliosis	5160	PDHA1	ORPHA:79243
HP:0012698	Cerebellar gliosis	8398	PLA2G6	ORPHA:35069
HP:0012699	Anomaly of lower limb diaphyses	284058	KANSL1	ORPHA:363965
HP:0012699	Anomaly of lower limb diaphyses	284058	KANSL1	ORPHA:363958
HP:0007397	Axillary apocrine gland hypoplasia	6926	TBX3	OMIM:181450
HP:0007398	Asymmetric, linear skin defects	1349	COX7B	OMIM:300887
HP:0007398	Asymmetric, linear skin defects	1349	COX7B	OMIM:309801
HP:0007398	Asymmetric, linear skin defects	54539	NDUFB11	OMIM:309801
HP:0007398	Asymmetric, linear skin defects	54539	NDUFB11	OMIM:300952
HP:0007398	Asymmetric, linear skin defects	3052	HCCS	OMIM:309801
HP:0100869	Palmar telangiectasia	94	ACVRL1	OMIM:600376
HP:0100869	Palmar telangiectasia	54345	SOX18	ORPHA:69735
HP:0100869	Palmar telangiectasia	54345	SOX18	OMIM:607823
HP:0100869	Palmar telangiectasia	2859	GPR35	ORPHA:171
HP:0100869	Palmar telangiectasia	10507	SEMA4D	ORPHA:171
HP:0100869	Palmar telangiectasia	4485	MST1	ORPHA:171
HP:0100869	Palmar telangiectasia	6925	TCF4	ORPHA:171
HP:0100869	Palmar telangiectasia	3930	LBR	OMIM:613471
HP:0030237	Hand muscle weakness	2617	GARS1	OMIM:600794
HP:0030237	Hand muscle weakness	2617	GARS1	ORPHA:139536
HP:0030237	Hand muscle weakness	2617	GARS1	OMIM:601472
HP:0030237	Hand muscle weakness	2318	FLNC	OMIM:614065
HP:0030237	Hand muscle weakness	4703	NEB	ORPHA:399103
HP:0030237	Hand muscle weakness	7273	TTN	ORPHA:609
HP:0030237	Hand muscle weakness	8878	SQSTM1	ORPHA:603
HP:0030237	Hand muscle weakness	7072	TIA1	ORPHA:603
HP:0030237	Hand muscle weakness	11155	LDB3	ORPHA:98912
HP:0030237	Hand muscle weakness	3094	HINT1	ORPHA:324442
HP:0030237	Hand muscle weakness	6329	SCN4A	ORPHA:98913
HP:0030237	Hand muscle weakness	1134	CHRNA1	ORPHA:98913
HP:0030237	Hand muscle weakness	4038	LRP4	ORPHA:98913
HP:0030237	Hand muscle weakness	1305	COL13A1	ORPHA:98913
HP:0030237	Hand muscle weakness	1140	CHRNB1	ORPHA:98913
HP:0030237	Hand muscle weakness	1144	CHRND	ORPHA:98913
HP:0030237	Hand muscle weakness	1145	CHRNE	ORPHA:98913
HP:0030237	Hand muscle weakness	4593	MUSK	ORPHA:98913
HP:0030237	Hand muscle weakness	5913	RAPSN	ORPHA:98913
HP:0030237	Hand muscle weakness	375790	AGRN	ORPHA:98913
HP:0030237	Hand muscle weakness	221264	AK9	ORPHA:98913
HP:0030237	Hand muscle weakness	285489	DOK7	ORPHA:98913
HP:0030237	Hand muscle weakness	10020	GNE	ORPHA:602
HP:0030237	Hand muscle weakness	4625	MYH7	OMIM:160500
HP:0030237	Hand muscle weakness	5376	PMP22	OMIM:162500
HP:0030237	Hand muscle weakness	5376	PMP22	ORPHA:90658
HP:0030237	Hand muscle weakness	4141	MARS1	OMIM:616280
HP:0030237	Hand muscle weakness	23299	BICD2	ORPHA:363454
HP:0030237	Hand muscle weakness	65055	REEP1	ORPHA:101011
HP:0030237	Hand muscle weakness	8988	HSPB3	OMIM:613376
HP:0030237	Hand muscle weakness	9782	MATR3	OMIM:606070
HP:0030237	Hand muscle weakness	57104	PNPLA2	ORPHA:98908
HP:0030237	Hand muscle weakness	859	CAV3	OMIM:614321
HP:0030237	Hand muscle weakness	5165	PDK3	OMIM:300905
HP:0030237	Hand muscle weakness	1639	DCTN1	OMIM:607641
HP:0030237	Hand muscle weakness	81846	SBF2	ORPHA:99956
HP:0030237	Hand muscle weakness	54332	GDAP1	ORPHA:101097
HP:0030237	Hand muscle weakness	54332	GDAP1	ORPHA:99948
HP:0030237	Hand muscle weakness	7084	TK2	ORPHA:254886
HP:0030237	Hand muscle weakness	5428	POLG	ORPHA:254886
HP:0030237	Hand muscle weakness	2705	GJB1	OMIM:302800
HP:0030237	Hand muscle weakness	2992	GYG1	OMIM:616199
HP:0030237	Hand muscle weakness	26580	BSCL2	ORPHA:100998
HP:0030237	Hand muscle weakness	22880	MORC2	ORPHA:466768
HP:0030237	Hand muscle weakness	3035	HARS1	ORPHA:488333
HP:0030237	Hand muscle weakness	8292	COLQ	ORPHA:98915
HP:0030237	Hand muscle weakness	3913	LAMB2	ORPHA:98915
HP:0030237	Hand muscle weakness	4000	LMNA	ORPHA:98856
HP:0030237	Hand muscle weakness	4747	NEFL	ORPHA:101085
HP:0030237	Hand muscle weakness	10073	SNUPN	OMIM:620793
HP:0030237	Hand muscle weakness	9927	MFN2	ORPHA:99947
HP:0030237	Hand muscle weakness	8565	YARS1	OMIM:608323
HP:0030237	Hand muscle weakness	8291	DYSF	ORPHA:178400
HP:0030237	Hand muscle weakness	57863	CADM3	OMIM:619519
HP:0030236	Abnormality of muscle size	11160	ERLIN2	ORPHA:280384
HP:0030236	Abnormality of muscle size	11160	ERLIN2	ORPHA:209951
HP:0030236	Abnormality of muscle size	8450	CUL4B	OMIM:300354
HP:0030236	Abnormality of muscle size	51422	PRKAG2	OMIM:261740
HP:0030236	Abnormality of muscle size	9158	FIBP	ORPHA:500095
HP:0030236	Abnormality of muscle size	9158	FIBP	OMIM:617107
HP:0030236	Abnormality of muscle size	9927	MFN2	OMIM:151800
HP:0030236	Abnormality of muscle size	652	BMP4	ORPHA:828
HP:0030236	Abnormality of muscle size	56623	INPP5E	OMIM:213300
HP:0030236	Abnormality of muscle size	79813	EHMT1	ORPHA:96147
HP:0030236	Abnormality of muscle size	79813	EHMT1	OMIM:610253
HP:0030236	Abnormality of muscle size	546	ATRX	OMIM:301040
HP:0030236	Abnormality of muscle size	546	ATRX	ORPHA:847
HP:0030236	Abnormality of muscle size	546	ATRX	OMIM:309580
HP:0030236	Abnormality of muscle size	411	ARSB	OMIM:253200
HP:0030236	Abnormality of muscle size	3190	HNRNPK	ORPHA:453504
HP:0030236	Abnormality of muscle size	3190	HNRNPK	ORPHA:352665
HP:0030236	Abnormality of muscle size	4125	MAN2B1	ORPHA:309282
HP:0030236	Abnormality of muscle size	4125	MAN2B1	ORPHA:309288
HP:0030236	Abnormality of muscle size	4125	MAN2B1	OMIM:248500
HP:0030236	Abnormality of muscle size	27125	AFF4	ORPHA:444077
HP:0030236	Abnormality of muscle size	7849	PAX8	OMIM:218700
HP:0030236	Abnormality of muscle size	7849	PAX8	ORPHA:95720
HP:0030236	Abnormality of muscle size	7849	PAX8	ORPHA:95713
HP:0030236	Abnormality of muscle size	7849	PAX8	ORPHA:95712
HP:0030236	Abnormality of muscle size	91754	NEK9	OMIM:617022
HP:0030236	Abnormality of muscle size	388015	RTL1	ORPHA:254528
HP:0030236	Abnormality of muscle size	388015	RTL1	ORPHA:96334
HP:0030236	Abnormality of muscle size	8788	DLK1	ORPHA:254528
HP:0030236	Abnormality of muscle size	8788	DLK1	ORPHA:96334
HP:0030236	Abnormality of muscle size	55384	MEG3	ORPHA:254528
HP:0030236	Abnormality of muscle size	55384	MEG3	ORPHA:96334
HP:0030236	Abnormality of muscle size	3074	HEXB	OMIM:268800
HP:0030236	Abnormality of muscle size	65082	VPS33A	OMIM:617303
HP:0030236	Abnormality of muscle size	65082	VPS33A	ORPHA:505248
HP:0030236	Abnormality of muscle size	526	ATP6V1B2	OMIM:616455
HP:0030236	Abnormality of muscle size	526	ATP6V1B2	ORPHA:3473
HP:0030236	Abnormality of muscle size	10758	TRAF3IP2	OMIM:615527
HP:0030236	Abnormality of muscle size	10084	PQBP1	ORPHA:93947
HP:0030236	Abnormality of muscle size	2720	GLB1	ORPHA:79255
HP:0030236	Abnormality of muscle size	79158	GNPTAB	OMIM:252500
HP:0030236	Abnormality of muscle size	271	AMPD2	OMIM:615809
HP:0030236	Abnormality of muscle size	3908	LAMA2	ORPHA:258
HP:0030236	Abnormality of muscle size	57231	SNX14	ORPHA:397709
HP:0030236	Abnormality of muscle size	57231	SNX14	OMIM:616354
HP:0030236	Abnormality of muscle size	5189	PEX1	OMIM:214100
HP:0030236	Abnormality of muscle size	3767	KCNJ11	ORPHA:99886
HP:0030236	Abnormality of muscle size	346171	ZFP57	ORPHA:99886
HP:0030236	Abnormality of muscle size	57061	HYMAI	ORPHA:99886
HP:0030236	Abnormality of muscle size	57061	HYMAI	ORPHA:96191
HP:0030236	Abnormality of muscle size	6833	ABCC8	ORPHA:99886
HP:0030236	Abnormality of muscle size	5325	PLAGL1	ORPHA:99886
HP:0030236	Abnormality of muscle size	5325	PLAGL1	ORPHA:96191
HP:0030236	Abnormality of muscle size	7253	TSHR	ORPHA:90673
HP:0030236	Abnormality of muscle size	7253	TSHR	ORPHA:95720
HP:0030236	Abnormality of muscle size	7253	TSHR	ORPHA:95713
HP:0030236	Abnormality of muscle size	5172	SLC26A4	ORPHA:95720
HP:0030236	Abnormality of muscle size	5172	SLC26A4	ORPHA:95713
HP:0030236	Abnormality of muscle size	7252	TSHB	ORPHA:90674
HP:0030236	Abnormality of muscle size	7252	TSHB	OMIM:275100
HP:0030236	Abnormality of muscle size	55777	MBD5	OMIM:156200
HP:0030236	Abnormality of muscle size	10940	POP1	OMIM:617396
HP:0030236	Abnormality of muscle size	405753	DUOXA2	ORPHA:95716
HP:0030236	Abnormality of muscle size	6528	SLC5A5	ORPHA:95716
HP:0030236	Abnormality of muscle size	6528	SLC5A5	OMIM:274400
HP:0030236	Abnormality of muscle size	7038	TG	ORPHA:95716
HP:0030236	Abnormality of muscle size	7173	TPO	ORPHA:95716
HP:0030236	Abnormality of muscle size	389434	IYD	ORPHA:95716
HP:0030236	Abnormality of muscle size	50506	DUOX2	ORPHA:95716
HP:0030236	Abnormality of muscle size	50506	DUOX2	ORPHA:226316
HP:0030236	Abnormality of muscle size	7080	NKX2-1	ORPHA:95713
HP:0030236	Abnormality of muscle size	1482	NKX2-5	ORPHA:95713
HP:0030236	Abnormality of muscle size	1482	NKX2-5	ORPHA:95712
HP:0030236	Abnormality of muscle size	2304	FOXE1	ORPHA:95713
HP:0030236	Abnormality of muscle size	3423	IDS	ORPHA:217085
HP:0030236	Abnormality of muscle size	3423	IDS	ORPHA:217093
HP:0030236	Abnormality of muscle size	3423	IDS	OMIM:309900
HP:0030236	Abnormality of muscle size	3572	IL6ST	OMIM:618523
HP:0030236	Abnormality of muscle size	93627	TBCK	OMIM:616900
HP:0030236	Abnormality of muscle size	93627	TBCK	ORPHA:488632
HP:0030236	Abnormality of muscle size	8289	ARID1A	OMIM:614607
HP:0030236	Abnormality of muscle size	23389	MED13L	ORPHA:369891
HP:0030236	Abnormality of muscle size	23389	MED13L	OMIM:616789
HP:0030236	Abnormality of muscle size	83550	GPR101	ORPHA:963
HP:0030236	Abnormality of muscle size	9049	AIP	ORPHA:963
HP:0030236	Abnormality of muscle size	6598	SMARCB1	OMIM:614608
HP:0030236	Abnormality of muscle size	6597	SMARCA4	OMIM:614609
HP:0030236	Abnormality of muscle size	60	ACTB	ORPHA:79107
HP:0030236	Abnormality of muscle size	3265	HRAS	ORPHA:3071
HP:0030236	Abnormality of muscle size	3265	HRAS	OMIM:218040
HP:0030236	Abnormality of muscle size	10483	SEC23B	ORPHA:201
HP:0030236	Abnormality of muscle size	5728	PTEN	ORPHA:201
HP:0030236	Abnormality of muscle size	5728	PTEN	ORPHA:65285
HP:0030236	Abnormality of muscle size	6390	SDHB	ORPHA:201
HP:0030236	Abnormality of muscle size	6392	SDHD	ORPHA:201
HP:0030236	Abnormality of muscle size	6391	SDHC	ORPHA:201
HP:0030236	Abnormality of muscle size	207	AKT1	ORPHA:201
HP:0030236	Abnormality of muscle size	205717	USF3	ORPHA:201
HP:0030236	Abnormality of muscle size	5290	PIK3CA	ORPHA:201
HP:0030236	Abnormality of muscle size	100144748	KLLN	ORPHA:201
HP:0030236	Abnormality of muscle size	112812	FDX2	OMIM:251900
HP:0030236	Abnormality of muscle size	4556	MT-TE	ORPHA:254864
HP:0030236	Abnormality of muscle size	55687	TRMU	ORPHA:254864
HP:0030236	Abnormality of muscle size	7067	THRA	OMIM:614450
HP:0030236	Abnormality of muscle size	29128	UHRF1	ORPHA:2268
HP:0030236	Abnormality of muscle size	3070	HELLS	ORPHA:2268
HP:0030236	Abnormality of muscle size	1789	DNMT3B	ORPHA:2268
HP:0030236	Abnormality of muscle size	1789	DNMT3B	OMIM:242860
HP:0030236	Abnormality of muscle size	83879	CDCA7	ORPHA:2268
HP:0030236	Abnormality of muscle size	9841	ZBTB24	ORPHA:2268
HP:0030236	Abnormality of muscle size	6023	RMRP	OMIM:607095
HP:0030236	Abnormality of muscle size	175	AGA	OMIM:208400
HP:0030236	Abnormality of muscle size	175	AGA	ORPHA:93
HP:0030236	Abnormality of muscle size	3756	KCNH1	ORPHA:3473
HP:0030236	Abnormality of muscle size	3782	KCNN3	ORPHA:3473
HP:0030236	Abnormality of muscle size	3425	IDUA	OMIM:607014
HP:0030236	Abnormality of muscle size	3425	IDUA	ORPHA:93473
HP:0030236	Abnormality of muscle size	26040	SETBP1	OMIM:269150
HP:0030236	Abnormality of muscle size	26040	SETBP1	ORPHA:798
HP:0030236	Abnormality of muscle size	26834	RNU4-2	OMIM:620851
HP:0030236	Abnormality of muscle size	6445	SGCG	ORPHA:353
HP:0030236	Abnormality of muscle size	9653	HS2ST1	OMIM:619194
HP:0030236	Abnormality of muscle size	2290	FOXG1	ORPHA:261144
HP:0030236	Abnormality of muscle size	57003	CCDC47	OMIM:618268
HP:0030236	Abnormality of muscle size	10526	IPO8	OMIM:619472
HP:0030236	Abnormality of muscle size	23126	POGZ	OMIM:616364
HP:0030236	Abnormality of muscle size	94005	PIGS	OMIM:618143
HP:0030236	Abnormality of muscle size	5626	PROP1	ORPHA:226307
HP:0030236	Abnormality of muscle size	89884	LHX4	ORPHA:226307
HP:0030236	Abnormality of muscle size	8022	LHX3	ORPHA:226307
HP:0030236	Abnormality of muscle size	5449	POU1F1	ORPHA:226307
HP:0030236	Abnormality of muscle size	5449	POU1F1	OMIM:613038
HP:0030236	Abnormality of muscle size	8820	HESX1	ORPHA:226307
HP:0030236	Abnormality of muscle size	2517	FUCA1	OMIM:230000
HP:0030236	Abnormality of muscle size	2548	GAA	OMIM:232300
HP:0030236	Abnormality of muscle size	2548	GAA	ORPHA:308552
HP:0030236	Abnormality of muscle size	51692	CPSF3	OMIM:619876
HP:0030236	Abnormality of muscle size	6804	STX1A	ORPHA:904
HP:0030236	Abnormality of muscle size	7461	CLIP2	ORPHA:904
HP:0030236	Abnormality of muscle size	84277	DNAJC30	ORPHA:904
HP:0030236	Abnormality of muscle size	8468	FKBP6	ORPHA:904
HP:0030236	Abnormality of muscle size	5982	RFC2	ORPHA:904
HP:0030236	Abnormality of muscle size	2969	GTF2I	ORPHA:904
HP:0030236	Abnormality of muscle size	3984	LIMK1	ORPHA:904
HP:0030236	Abnormality of muscle size	9569	GTF2IRD1	ORPHA:904
HP:0030236	Abnormality of muscle size	155382	VPS37D	ORPHA:904
HP:0030236	Abnormality of muscle size	155368	METTL27	ORPHA:904
HP:0030236	Abnormality of muscle size	114049	BUD23	ORPHA:904
HP:0030236	Abnormality of muscle size	7458	EIF4H	ORPHA:904
HP:0030236	Abnormality of muscle size	84163	GTF2IRD2	ORPHA:904
HP:0030236	Abnormality of muscle size	26608	TBL2	ORPHA:904
HP:0030236	Abnormality of muscle size	653361	NCF1	ORPHA:904
HP:0030236	Abnormality of muscle size	135886	TMEM270	ORPHA:904
HP:0030236	Abnormality of muscle size	9031	BAZ1B	ORPHA:904
HP:0030236	Abnormality of muscle size	2006	ELN	ORPHA:904
HP:0030236	Abnormality of muscle size	79753	SNIP1	OMIM:614501
HP:0030236	Abnormality of muscle size	7337	UBE3A	OMIM:105830
HP:0030236	Abnormality of muscle size	6638	SNRPN	OMIM:105830
HP:0030236	Abnormality of muscle size	6288	SAA1	ORPHA:85445
HP:0030236	Abnormality of muscle size	2799	GNS	OMIM:252940
HP:0030236	Abnormality of muscle size	4920	ROR2	OMIM:268310
HP:0030236	Abnormality of muscle size	2239	GPC4	ORPHA:373
HP:0030236	Abnormality of muscle size	2239	GPC4	OMIM:312870
HP:0030236	Abnormality of muscle size	2719	GPC3	ORPHA:373
HP:0030236	Abnormality of muscle size	2719	GPC3	OMIM:312870
HP:0030236	Abnormality of muscle size	4123	MAN2C1	OMIM:619775
HP:0030236	Abnormality of muscle size	54941	RNF125	OMIM:616260
HP:0030236	Abnormality of muscle size	284098	PIGW	OMIM:616025
HP:0030236	Abnormality of muscle size	10020	GNE	OMIM:269921
HP:0030236	Abnormality of muscle size	1028	CDKN1C	OMIM:130650
HP:0030236	Abnormality of muscle size	3481	IGF2	OMIM:130650
HP:0030236	Abnormality of muscle size	3784	KCNQ1	OMIM:130650
HP:0030236	Abnormality of muscle size	10984	KCNQ1OT1	OMIM:130650
HP:0030236	Abnormality of muscle size	5286	PIK3C2A	OMIM:618440
HP:0030236	Abnormality of muscle size	2990	GUSB	OMIM:253220
HP:0030236	Abnormality of muscle size	3643	INSR	ORPHA:769
HP:0030236	Abnormality of muscle size	55679	LIMS2	OMIM:616827
HP:0030236	Abnormality of muscle size	29929	ALG6	ORPHA:79320
HP:0030236	Abnormality of muscle size	10195	ALG3	ORPHA:79321
HP:0030236	Abnormality of muscle size	3778	KCNMA1	OMIM:618729
HP:0030236	Abnormality of muscle size	7474	WNT5A	OMIM:180700
HP:0030236	Abnormality of muscle size	1855	DVL1	OMIM:180700
HP:0030236	Abnormality of muscle size	79053	ALG8	ORPHA:79325
HP:0030236	Abnormality of muscle size	9742	IFT140	OMIM:266920
HP:0030236	Abnormality of muscle size	7543	ZFX	OMIM:301118
HP:0030236	Abnormality of muscle size	27133	KCNH5	OMIM:620537
HP:0030236	Abnormality of muscle size	5696	PSMB8	OMIM:256040
HP:0030236	Abnormality of muscle size	63895	PIEZO2	ORPHA:2461
HP:0030236	Abnormality of muscle size	64374	SIL1	ORPHA:559
HP:0030236	Abnormality of muscle size	84892	POMGNT2	ORPHA:899
HP:0030236	Abnormality of muscle size	148789	B3GALNT2	ORPHA:899
HP:0030236	Abnormality of muscle size	79147	FKRP	ORPHA:899
HP:0030236	Abnormality of muscle size	29954	POMT2	ORPHA:899
HP:0030236	Abnormality of muscle size	9215	LARGE1	ORPHA:899
HP:0030236	Abnormality of muscle size	1282	COL4A1	ORPHA:899
HP:0030236	Abnormality of muscle size	729920	CRPPA	ORPHA:899
HP:0030236	Abnormality of muscle size	10329	RXYLT1	ORPHA:899
HP:0030236	Abnormality of muscle size	1605	DAG1	ORPHA:899
HP:0030236	Abnormality of muscle size	11041	B4GAT1	ORPHA:899
HP:0030236	Abnormality of muscle size	10585	POMT1	ORPHA:899
HP:0030236	Abnormality of muscle size	84197	POMK	ORPHA:899
HP:0030236	Abnormality of muscle size	2218	FKTN	ORPHA:899
HP:0030236	Abnormality of muscle size	55624	POMGNT1	ORPHA:899
HP:0030236	Abnormality of muscle size	1134	CHRNA1	OMIM:253290
HP:0030236	Abnormality of muscle size	1146	CHRNG	OMIM:253290
HP:0030236	Abnormality of muscle size	1144	CHRND	OMIM:253290
HP:0030236	Abnormality of muscle size	59341	TRPV4	OMIM:181405
HP:0030236	Abnormality of muscle size	3991	LIPE	ORPHA:435660
HP:0030236	Abnormality of muscle size	859	CAV3	OMIM:606072
HP:0030236	Abnormality of muscle size	3703	STT3A	OMIM:619714
HP:0030236	Abnormality of muscle size	6329	SCN4A	ORPHA:99735
HP:0030236	Abnormality of muscle size	6329	SCN4A	ORPHA:99736
HP:0030236	Abnormality of muscle size	6329	SCN4A	OMIM:168300
HP:0030236	Abnormality of muscle size	6329	SCN4A	OMIM:608390
HP:0030236	Abnormality of muscle size	6329	SCN4A	ORPHA:682
HP:0030236	Abnormality of muscle size	1180	CLCN1	OMIM:255700
HP:0030236	Abnormality of muscle size	1180	CLCN1	ORPHA:614
HP:0030236	Abnormality of muscle size	1180	CLCN1	OMIM:160800
HP:0030236	Abnormality of muscle size	6473	SHOX	OMIM:127300
HP:0030236	Abnormality of muscle size	6473	SHOX	ORPHA:314795
HP:0030236	Abnormality of muscle size	5631	PRPS1	ORPHA:99014
HP:0030236	Abnormality of muscle size	29925	GMPPB	ORPHA:370959
HP:0030236	Abnormality of muscle size	29925	GMPPB	ORPHA:370968
HP:0030236	Abnormality of muscle size	64419	MTMR14	OMIM:160150
HP:0030236	Abnormality of muscle size	1785	DNM2	OMIM:160150
HP:0030236	Abnormality of muscle size	4089	SMAD4	OMIM:139210
HP:0030236	Abnormality of muscle size	4089	SMAD4	ORPHA:2588
HP:0030236	Abnormality of muscle size	3714	JAG2	OMIM:619566
HP:0030236	Abnormality of muscle size	63924	CIDEC	ORPHA:435651
HP:0030236	Abnormality of muscle size	11128	POLR3A	ORPHA:3455
HP:0030236	Abnormality of muscle size	2273	FHL1	OMIM:300280
HP:0030236	Abnormality of muscle size	2273	FHL1	OMIM:300696
HP:0030236	Abnormality of muscle size	487	ATP2A1	OMIM:601003
HP:0030236	Abnormality of muscle size	4000	LMNA	ORPHA:280365
HP:0030236	Abnormality of muscle size	4000	LMNA	OMIM:151660
HP:0030236	Abnormality of muscle size	4000	LMNA	ORPHA:2348
HP:0030236	Abnormality of muscle size	2660	MSTN	OMIM:614160
HP:0030236	Abnormality of muscle size	5468	PPARG	ORPHA:79083
HP:0030236	Abnormality of muscle size	5468	PPARG	ORPHA:528
HP:0030236	Abnormality of muscle size	5346	PLIN1	OMIM:613877
HP:0030236	Abnormality of muscle size	3339	HSPG2	OMIM:255800
HP:0030236	Abnormality of muscle size	3339	HSPG2	ORPHA:800
HP:0030236	Abnormality of muscle size	11145	PLAAT3	OMIM:620683
HP:0030236	Abnormality of muscle size	10555	AGPAT2	ORPHA:528
HP:0030236	Abnormality of muscle size	284119	CAVIN1	ORPHA:528
HP:0030236	Abnormality of muscle size	284119	CAVIN1	OMIM:613327
HP:0030236	Abnormality of muscle size	26580	BSCL2	ORPHA:528
HP:0030236	Abnormality of muscle size	2353	FOS	ORPHA:528
HP:0030236	Abnormality of muscle size	857	CAV1	ORPHA:528
HP:0030236	Abnormality of muscle size	372	ARCN1	OMIM:617164
HP:0030236	Abnormality of muscle size	4359	MPZ	ORPHA:101082
HP:0030236	Abnormality of muscle size	9839	ZEB2	OMIM:235730
HP:0030236	Abnormality of muscle size	9939	RBM8A	OMIM:274000
HP:0030236	Abnormality of muscle size	2201	FBN2	OMIM:121050
HP:0030236	Abnormality of muscle size	5376	PMP22	ORPHA:90658
HP:0030236	Abnormality of muscle size	6736	SRY	ORPHA:1772
HP:0030236	Abnormality of muscle size	5921	RASA1	ORPHA:90307
HP:0030236	Abnormality of muscle size	7273	TTN	OMIM:603689
HP:0030236	Abnormality of muscle size	7273	TTN	ORPHA:178464
HP:0030236	Abnormality of muscle size	7273	TTN	OMIM:611705
HP:0030236	Abnormality of muscle size	10367	MICU1	OMIM:615673
HP:0030236	Abnormality of muscle size	6606	SMN1	OMIM:271150
HP:0030236	Abnormality of muscle size	1756	DMD	OMIM:310200
HP:0030236	Abnormality of muscle size	1756	DMD	ORPHA:206546
HP:0030236	Abnormality of muscle size	1756	DMD	ORPHA:98896
HP:0030236	Abnormality of muscle size	274	BIN1	ORPHA:169189
HP:0030236	Abnormality of muscle size	4618	MYF6	ORPHA:169189
HP:0030236	Abnormality of muscle size	6261	RYR1	ORPHA:169189
HP:0030236	Abnormality of muscle size	6442	SGCA	OMIM:608099
HP:0030236	Abnormality of muscle size	5339	PLEC	ORPHA:254361
HP:0030236	Abnormality of muscle size	8291	DYSF	ORPHA:268
HP:0030236	Abnormality of muscle size	8291	DYSF	ORPHA:45448
HP:0030236	Abnormality of muscle size	825	CAPN3	ORPHA:267
HP:0030236	Abnormality of muscle size	6576	SLC25A1	OMIM:618197
HP:0030236	Abnormality of muscle size	400916	CHCHD10	OMIM:615048
HP:0030236	Abnormality of muscle size	3736	KCNA1	ORPHA:37612
HP:0030236	Abnormality of muscle size	6444	SGCD	OMIM:601287
HP:0030236	Abnormality of muscle size	2483	FRG1	OMIM:158900
HP:0030236	Abnormality of muscle size	146862	UNC45B	OMIM:619178
HP:0030236	Abnormality of muscle size	64208	POPDC3	OMIM:618848
HP:0030236	Abnormality of muscle size	4625	MYH7	OMIM:255160
HP:0030236	Abnormality of muscle size	80208	SPG11	OMIM:616668
HP:0030236	Abnormality of muscle size	7555	CNBP	ORPHA:606
HP:0030236	Abnormality of muscle size	203859	ANO5	OMIM:613319
HP:0030236	Abnormality of muscle size	203859	ANO5	OMIM:611307
HP:0030236	Abnormality of muscle size	203859	ANO5	ORPHA:206549
HP:0030236	Abnormality of muscle size	9217	VAPB	ORPHA:209335
HP:0030236	Abnormality of muscle size	8557	TCAP	OMIM:601954
HP:0030236	Abnormality of muscle size	54344	DPM3	ORPHA:263494
HP:0030236	Abnormality of muscle size	8449	DHX16	OMIM:618733
HP:0030236	Abnormality of muscle size	367	AR	OMIM:313200
HP:0030236	Abnormality of muscle size	6443	SGCB	ORPHA:119
HP:0030236	Abnormality of muscle size	3156	HMGCR	OMIM:620375
HP:0030236	Abnormality of muscle size	8425	LTBP4	ORPHA:98896
HP:0030236	Abnormality of muscle size	57167	SALL4	OMIM:607323
HP:0030236	Abnormality of muscle size	79796	ALG9	ORPHA:79328
HP:0030236	Abnormality of muscle size	78989	COLEC11	OMIM:265050
HP:0030236	Abnormality of muscle size	2316	FLNA	OMIM:305620
HP:0030236	Abnormality of muscle size	2316	FLNA	ORPHA:1826
HP:0030236	Abnormality of muscle size	57190	SELENON	ORPHA:2020
HP:0030236	Abnormality of muscle size	58	ACTA1	ORPHA:2020
HP:0030236	Abnormality of muscle size	4633	MYL2	ORPHA:2020
HP:0030236	Abnormality of muscle size	3679	ITGA7	ORPHA:2020
HP:0030236	Abnormality of muscle size	7169	TPM2	ORPHA:2020
HP:0030236	Abnormality of muscle size	9200	HACD1	ORPHA:2020
HP:0030236	Abnormality of muscle size	7170	TPM3	ORPHA:2020
HP:0030236	Abnormality of muscle size	51776	MAP3K20	ORPHA:2020
HP:0030236	Abnormality of muscle size	3043	HBB	ORPHA:231226
HP:0030236	Abnormality of muscle size	3043	HBB	ORPHA:231214
HP:0030236	Abnormality of muscle size	55640	FLVCR2	OMIM:225790
HP:0030236	Abnormality of muscle size	23545	ATP6V0A2	OMIM:278250
HP:0030236	Abnormality of muscle size	7046	TGFBR1	OMIM:609192
HP:0030236	Abnormality of muscle size	6885	MAP3K7	ORPHA:1826
HP:0030236	Abnormality of muscle size	389827	MYMK	OMIM:254940
HP:0030236	Abnormality of muscle size	2733	GLE1	OMIM:253310
HP:0030236	Abnormality of muscle size	6910	TBX5	OMIM:142900
HP:0030236	Abnormality of muscle size	5980	REV3L	ORPHA:570
HP:0030236	Abnormality of muscle size	23129	PLXND1	ORPHA:570
HP:0030236	Abnormality of muscle size	3708	ITPR1	OMIM:206700
HP:0030236	Abnormality of muscle size	6926	TBX3	ORPHA:3138
HP:0030236	Abnormality of muscle size	101929726	MYMX	ORPHA:1358
HP:0030236	Abnormality of muscle size	4010	LMX1B	OMIM:161200
HP:0030236	Abnormality of muscle size	25792	CIZ1	ORPHA:420492
HP:0030236	Abnormality of muscle size	2892	GRIA3	ORPHA:364028
HP:0030235	Extremely elevated creatine kinase	4747	NEFL	ORPHA:99939
HP:0030235	Extremely elevated creatine kinase	2318	FLNC	ORPHA:171445
HP:0030235	Extremely elevated creatine kinase	10367	MICU1	OMIM:615673
HP:0030234	Highly elevated creatine kinase	4000	LMNA	OMIM:181350
HP:0030234	Highly elevated creatine kinase	64208	POPDC3	OMIM:618848
HP:0030234	Highly elevated creatine kinase	112812	FDX2	OMIM:251900
HP:0030234	Highly elevated creatine kinase	54344	DPM3	OMIM:618992
HP:0030234	Highly elevated creatine kinase	84033	OBSCN	ORPHA:99845
HP:0030234	Highly elevated creatine kinase	23175	LPIN1	ORPHA:99845
HP:0030234	Highly elevated creatine kinase	4512	MT-CO1	ORPHA:99845
HP:0030234	Highly elevated creatine kinase	4514	MT-CO3	ORPHA:99845
HP:0030234	Highly elevated creatine kinase	10073	SNUPN	OMIM:620793
HP:0030234	Highly elevated creatine kinase	729920	CRPPA	ORPHA:352479
HP:0030234	Highly elevated creatine kinase	5837	PYGM	ORPHA:368
HP:0030234	Highly elevated creatine kinase	3908	LAMA2	ORPHA:258
HP:0030234	Highly elevated creatine kinase	203859	ANO5	ORPHA:399096
HP:0030232	Increased sarcoplasmic glycogen	5256	PHKA2	ORPHA:264580
HP:0030232	Increased sarcoplasmic glycogen	5261	PHKG2	ORPHA:264580
HP:0030231	Glycogen accumulation in muscle fiber lysosomes	5837	PYGM	ORPHA:368
HP:0030231	Glycogen accumulation in muscle fiber lysosomes	5255	PHKA1	OMIM:300559
HP:0030241	Hypoplasia of deltoid muscle	57167	SALL4	OMIM:147750
HP:0030241	Hypoplasia of deltoid muscle	6910	TBX5	OMIM:142900
HP:0030248	Mesenteric venous thrombosis	2034	EPAS1	OMIM:611783
HP:0030248	Mesenteric venous thrombosis	462	SERPINC1	ORPHA:82
HP:0030248	Mesenteric venous thrombosis	5277	PIGA	ORPHA:447
HP:0030247	Splanchnic vein thrombosis	4851	NOTCH1	OMIM:616028
HP:0030247	Splanchnic vein thrombosis	3717	JAK2	ORPHA:729
HP:0030247	Splanchnic vein thrombosis	4233	MET	ORPHA:33402
HP:0030247	Splanchnic vein thrombosis	1499	CTNNB1	ORPHA:33402
HP:0030247	Splanchnic vein thrombosis	462	SERPINC1	ORPHA:82
HP:0030247	Splanchnic vein thrombosis	6521	SLC4A1	ORPHA:3202
HP:0030247	Splanchnic vein thrombosis	9780	PIEZO1	ORPHA:3202
HP:0030247	Splanchnic vein thrombosis	3783	KCNN4	ORPHA:3202
HP:0030247	Splanchnic vein thrombosis	93183	PIGM	OMIM:610293
HP:0030247	Splanchnic vein thrombosis	10019	SH2B3	ORPHA:3318
HP:0030247	Splanchnic vein thrombosis	811	CALR	ORPHA:3318
HP:0030247	Splanchnic vein thrombosis	811	CALR	ORPHA:131
HP:0030247	Splanchnic vein thrombosis	7157	TP53	ORPHA:3318
HP:0030247	Splanchnic vein thrombosis	4352	MPL	ORPHA:3318
HP:0030247	Splanchnic vein thrombosis	54790	TET2	ORPHA:3318
HP:0030247	Splanchnic vein thrombosis	2153	F5	ORPHA:131
HP:0030247	Splanchnic vein thrombosis	1604	CD55	OMIM:226300
HP:0030247	Splanchnic vein thrombosis	11330	CTRC	ORPHA:676
HP:0030247	Splanchnic vein thrombosis	5644	PRSS1	ORPHA:676
HP:0030247	Splanchnic vein thrombosis	5645	PRSS2	ORPHA:676
HP:0030247	Splanchnic vein thrombosis	6690	SPINK1	ORPHA:676
HP:0030247	Splanchnic vein thrombosis	55503	TRPV6	ORPHA:676
HP:0030247	Splanchnic vein thrombosis	846	CASR	ORPHA:676
HP:0030247	Splanchnic vein thrombosis	1080	CFTR	ORPHA:676
HP:0030247	Splanchnic vein thrombosis	1357	CPA1	ORPHA:676
HP:0030247	Splanchnic vein thrombosis	2034	EPAS1	OMIM:611783
HP:0030247	Splanchnic vein thrombosis	5277	PIGA	ORPHA:447
HP:0030244	Maternal fever in pregnancy	4524	MTHFR	ORPHA:563612
HP:0030244	Maternal fever in pregnancy	4524	MTHFR	ORPHA:563609
HP:0030244	Maternal fever in pregnancy	57216	VANGL2	ORPHA:563612
HP:0030244	Maternal fever in pregnancy	57216	VANGL2	ORPHA:563609
HP:0030244	Maternal fever in pregnancy	81788	NUAK2	ORPHA:563609
HP:0030243	Hepatic vein thrombosis	10019	SH2B3	ORPHA:3318
HP:0030243	Hepatic vein thrombosis	811	CALR	ORPHA:3318
HP:0030243	Hepatic vein thrombosis	811	CALR	ORPHA:131
HP:0030243	Hepatic vein thrombosis	7157	TP53	ORPHA:3318
HP:0030243	Hepatic vein thrombosis	4352	MPL	ORPHA:3318
HP:0030243	Hepatic vein thrombosis	3717	JAK2	ORPHA:3318
HP:0030243	Hepatic vein thrombosis	3717	JAK2	ORPHA:131
HP:0030243	Hepatic vein thrombosis	54790	TET2	ORPHA:3318
HP:0030243	Hepatic vein thrombosis	2153	F5	ORPHA:131
HP:0030243	Hepatic vein thrombosis	462	SERPINC1	ORPHA:82
HP:0030243	Hepatic vein thrombosis	1604	CD55	OMIM:226300
HP:0030243	Hepatic vein thrombosis	93183	PIGM	OMIM:610293
HP:0030242	Portal vein thrombosis	4851	NOTCH1	OMIM:616028
HP:0030242	Portal vein thrombosis	3717	JAK2	ORPHA:729
HP:0030242	Portal vein thrombosis	4233	MET	ORPHA:33402
HP:0030242	Portal vein thrombosis	1499	CTNNB1	ORPHA:33402
HP:0030242	Portal vein thrombosis	462	SERPINC1	ORPHA:82
HP:0030242	Portal vein thrombosis	6521	SLC4A1	ORPHA:3202
HP:0030242	Portal vein thrombosis	9780	PIEZO1	ORPHA:3202
HP:0030242	Portal vein thrombosis	3783	KCNN4	ORPHA:3202
HP:0030242	Portal vein thrombosis	93183	PIGM	OMIM:610293
HP:0030252	Absent circulating B cells	3604	TNFRSF9	OMIM:620282
HP:0030252	Absent circulating B cells	96459	FNIP1	OMIM:619705
HP:0030252	Absent circulating B cells	6688	SPI1	OMIM:619707
HP:0030252	Absent circulating B cells	973	CD79A	OMIM:613501
HP:0030252	Absent circulating B cells	3543	IGLL1	OMIM:613500
HP:0030252	Absent circulating B cells	695	BTK	OMIM:307200
HP:0030252	Absent circulating B cells	7922	SLC39A7	OMIM:619693
HP:0030257	Freckled genitalia	5728	PTEN	ORPHA:79076
HP:0030257	Freckled genitalia	657	BMPR1A	ORPHA:79076
HP:0030256	Small intestinal polyposis	324	APC	OMIM:175100
HP:0030256	Small intestinal polyposis	324	APC	ORPHA:247806
HP:0030256	Small intestinal polyposis	324	APC	ORPHA:261584
HP:0030256	Small intestinal polyposis	324	APC	ORPHA:79665
HP:0030256	Small intestinal polyposis	4437	MSH3	OMIM:617100
HP:0030256	Small intestinal polyposis	657	BMPR1A	ORPHA:329971
HP:0030256	Small intestinal polyposis	4089	SMAD4	ORPHA:329971
HP:0030256	Small intestinal polyposis	2022	ENG	ORPHA:329971
HP:0030255	Large intestinal polyposis	8313	AXIN2	ORPHA:401911
HP:0030255	Large intestinal polyposis	8313	AXIN2	OMIM:608615
HP:0030255	Large intestinal polyposis	324	APC	ORPHA:261584
HP:0030255	Large intestinal polyposis	324	APC	ORPHA:99818
HP:0030255	Large intestinal polyposis	324	APC	OMIM:175100
HP:0030255	Large intestinal polyposis	324	APC	ORPHA:247806
HP:0030255	Large intestinal polyposis	324	APC	ORPHA:79665
HP:0030255	Large intestinal polyposis	54894	RNF43	ORPHA:157798
HP:0030255	Large intestinal polyposis	26585	GREM1	ORPHA:157794
HP:0030255	Large intestinal polyposis	657	BMPR1A	ORPHA:157794
HP:0030255	Large intestinal polyposis	657	BMPR1A	ORPHA:329971
HP:0030255	Large intestinal polyposis	657	BMPR1A	OMIM:610069
HP:0030255	Large intestinal polyposis	657	BMPR1A	ORPHA:79076
HP:0030255	Large intestinal polyposis	4913	NTHL1	ORPHA:454840
HP:0030255	Large intestinal polyposis	4913	NTHL1	OMIM:616415
HP:0030255	Large intestinal polyposis	4089	SMAD4	ORPHA:329971
HP:0030255	Large intestinal polyposis	2022	ENG	ORPHA:329971
HP:0030255	Large intestinal polyposis	8930	MBD4	OMIM:619975
HP:0030255	Large intestinal polyposis	5426	POLE	ORPHA:447877
HP:0030255	Large intestinal polyposis	5424	POLD1	ORPHA:447877
HP:0030255	Large intestinal polyposis	4292	MLH1	OMIM:276300
HP:0030255	Large intestinal polyposis	5395	PMS2	OMIM:619101
HP:0030255	Large intestinal polyposis	4437	MSH3	OMIM:617100
HP:0030255	Large intestinal polyposis	4437	MSH3	ORPHA:480536
HP:0030255	Large intestinal polyposis	4072	EPCAM	OMIM:613244
HP:0030255	Large intestinal polyposis	5728	PTEN	ORPHA:79076
HP:0030255	Large intestinal polyposis	4595	MUTYH	ORPHA:247798
HP:0030255	Large intestinal polyposis	201163	FLCN	OMIM:135150
HP:0030255	Large intestinal polyposis	10483	SEC23B	ORPHA:201
HP:0030255	Large intestinal polyposis	6390	SDHB	ORPHA:201
HP:0030255	Large intestinal polyposis	6392	SDHD	ORPHA:201
HP:0030255	Large intestinal polyposis	6391	SDHC	ORPHA:201
HP:0030255	Large intestinal polyposis	207	AKT1	ORPHA:201
HP:0030255	Large intestinal polyposis	205717	USF3	ORPHA:201
HP:0030255	Large intestinal polyposis	5290	PIK3CA	ORPHA:201
HP:0030255	Large intestinal polyposis	100144748	KLLN	ORPHA:201
HP:0030255	Large intestinal polyposis	9817	KEAP1	ORPHA:276399
HP:0030255	Large intestinal polyposis	23405	DICER1	ORPHA:276399
HP:0030255	Large intestinal polyposis	7157	TP53	ORPHA:524
HP:0030255	Large intestinal polyposis	1029	CDKN2A	ORPHA:524
HP:0030255	Large intestinal polyposis	4193	MDM2	ORPHA:524
HP:0030255	Large intestinal polyposis	11200	CHEK2	ORPHA:524
HP:0030254	Nail bed hemorrhage	284	ANGPT1	OMIM:619361
HP:0030254	Nail bed hemorrhage	26509	MYOF	OMIM:619366
HP:0030253	Defective T cell proliferation	27040	LAT	OMIM:617514
HP:0030253	Defective T cell proliferation	57591	MRTFA	OMIM:618847
HP:0030253	Defective T cell proliferation	1503	CTPS1	OMIM:615897
HP:0030253	Defective T cell proliferation	10125	RASGRP1	OMIM:618534
HP:0030253	Defective T cell proliferation	916	CD3E	OMIM:615615
HP:0030253	Defective T cell proliferation	3978	LIG1	OMIM:619774
HP:0030253	Defective T cell proliferation	7040	TGFB1	OMIM:618213
HP:0030253	Defective T cell proliferation	7456	WIPF1	OMIM:614493
HP:0030261	Absent penis	114034	TOE1	ORPHA:284339
HP:0030261	Absent penis	9562	MINPP1	ORPHA:284339
HP:0030260	Microphallus	2188	FANCF	OMIM:603467
HP:0030260	Microphallus	3284	HSD3B2	OMIM:201810
HP:0030260	Microphallus	4983	OPHN1	OMIM:300486
HP:0030260	Microphallus	114034	TOE1	ORPHA:284339
HP:0030260	Microphallus	9562	MINPP1	ORPHA:284339
HP:0030260	Microphallus	25942	SIN3A	ORPHA:94065
HP:0030260	Microphallus	25942	SIN3A	OMIM:613406
HP:0030260	Microphallus	8295	TRRAP	OMIM:618454
HP:0030260	Microphallus	54809	SAMD9	OMIM:617053
HP:0030260	Microphallus	57187	THOC2	OMIM:300957
HP:0030260	Microphallus	6870	TACR3	OMIM:614840
HP:0030260	Microphallus	3481	IGF2	ORPHA:397590
HP:0030260	Microphallus	1028	CDKN1C	ORPHA:397590
HP:0030260	Microphallus	5324	PLAG1	ORPHA:397590
HP:0030260	Microphallus	8091	HMGA2	ORPHA:397590
HP:0030260	Microphallus	2626	GATA4	OMIM:615542
HP:0030260	Microphallus	22858	CILK1	OMIM:612651
HP:0030260	Microphallus	25914	RTTN	ORPHA:468631
HP:0030269	Increased circulating insulin-like growth factor 1 concentration	4221	MEN1	ORPHA:99725
HP:0030269	Increased circulating insulin-like growth factor 1 concentration	9049	AIP	ORPHA:99725
HP:0030269	Increased circulating insulin-like growth factor 1 concentration	9049	AIP	ORPHA:963
HP:0030269	Increased circulating insulin-like growth factor 1 concentration	9049	AIP	OMIM:102200
HP:0030269	Increased circulating insulin-like growth factor 1 concentration	3480	IGF1R	OMIM:270450
HP:0030269	Increased circulating insulin-like growth factor 1 concentration	83550	GPR101	ORPHA:963
HP:0030269	Increased circulating insulin-like growth factor 1 concentration	83550	GPR101	OMIM:300942
HP:0030269	Increased circulating insulin-like growth factor 1 concentration	5573	PRKAR1A	ORPHA:1359
HP:0030269	Increased circulating insulin-like growth factor 1 concentration	50940	PDE11A	ORPHA:1359
HP:0030268	Hyperplastic callus formation	3868	KRT16	ORPHA:2309
HP:0030268	Hyperplastic callus formation	3872	KRT17	ORPHA:2309
HP:0030268	Hyperplastic callus formation	3853	KRT6A	ORPHA:2309
HP:0030268	Hyperplastic callus formation	3854	KRT6B	ORPHA:2309
HP:0030268	Hyperplastic callus formation	387733	IFITM5	OMIM:610967
HP:0010456	Abnormal greater sciatic notch morphology	2261	FGFR3	OMIM:187601
HP:0010456	Abnormal greater sciatic notch morphology	2261	FGFR3	ORPHA:1860
HP:0010456	Abnormal greater sciatic notch morphology	2261	FGFR3	OMIM:187600
HP:0010456	Abnormal greater sciatic notch morphology	2719	GPC3	OMIM:312870
HP:0010456	Abnormal greater sciatic notch morphology	2239	GPC4	OMIM:312870
HP:0010456	Abnormal greater sciatic notch morphology	1836	SLC26A2	OMIM:256050
HP:0010456	Abnormal greater sciatic notch morphology	59341	TRPV4	ORPHA:93314
HP:0010456	Abnormal greater sciatic notch morphology	2137	EXTL3	ORPHA:508533
HP:0010456	Abnormal greater sciatic notch morphology	2137	EXTL3	OMIM:617425
HP:0010456	Abnormal greater sciatic notch morphology	54808	DYM	OMIM:223800
HP:0010456	Abnormal greater sciatic notch morphology	65992	DDRGK1	OMIM:602557
HP:0010456	Abnormal greater sciatic notch morphology	1280	COL2A1	OMIM:184250
HP:0010456	Abnormal greater sciatic notch morphology	1280	COL2A1	ORPHA:93316
HP:0010456	Abnormal greater sciatic notch morphology	153241	CEP120	OMIM:616300
HP:0010456	Abnormal greater sciatic notch morphology	2990	GUSB	OMIM:253220
HP:0010456	Abnormal greater sciatic notch morphology	755	CFAP410	OMIM:602271
HP:0010456	Abnormal greater sciatic notch morphology	145258	GSC	OMIM:602471
HP:0010456	Abnormal greater sciatic notch morphology	4148	MATN3	OMIM:608728
HP:0010456	Abnormal greater sciatic notch morphology	79796	ALG9	ORPHA:79328
HP:0010456	Abnormal greater sciatic notch morphology	79796	ALG9	OMIM:263210
HP:0010456	Abnormal greater sciatic notch morphology	1301	COL11A1	OMIM:228520
HP:0010456	Abnormal greater sciatic notch morphology	5130	PCYT1A	ORPHA:85167
HP:0010456	Abnormal greater sciatic notch morphology	5130	PCYT1A	OMIM:608940
HP:0010456	Abnormal greater sciatic notch morphology	6729	SRP54	OMIM:260400
HP:0010456	Abnormal greater sciatic notch morphology	51119	SBDS	OMIM:260400
HP:0010456	Abnormal greater sciatic notch morphology	134218	DNAJC21	OMIM:260400
HP:0010456	Abnormal greater sciatic notch morphology	27152	INTU	OMIM:617925
HP:0010456	Abnormal greater sciatic notch morphology	2879	GPX4	OMIM:250220
HP:0030265	Wide penis	11128	POLR3A	ORPHA:3455
HP:0030264	Webbed penis	9839	ZEB2	ORPHA:261537
HP:0030264	Webbed penis	9839	ZEB2	ORPHA:261552
HP:0030264	Webbed penis	11128	POLR3A	ORPHA:3455
HP:0030273	Reduced red cell adenosine deaminase level	100	ADA	OMIM:102700
HP:0030272	Abnormal erythrocyte enzyme concentration or activity	5313	PKLR	OMIM:266200
HP:0030272	Abnormal erythrocyte enzyme concentration or activity	5313	PKLR	ORPHA:766
HP:0030272	Abnormal erythrocyte enzyme concentration or activity	6138	RPL15	ORPHA:124
HP:0030272	Abnormal erythrocyte enzyme concentration or activity	6138	RPL15	OMIM:615550
HP:0030272	Abnormal erythrocyte enzyme concentration or activity	6224	RPS20	ORPHA:124
HP:0030272	Abnormal erythrocyte enzyme concentration or activity	6165	RPL35A	ORPHA:124
HP:0030272	Abnormal erythrocyte enzyme concentration or activity	6132	RPL8	ORPHA:124
HP:0030272	Abnormal erythrocyte enzyme concentration or activity	6223	RPS19	ORPHA:124
HP:0030272	Abnormal erythrocyte enzyme concentration or activity	6223	RPS19	OMIM:105650
HP:0030272	Abnormal erythrocyte enzyme concentration or activity	6232	RPS27	ORPHA:124
HP:0030272	Abnormal erythrocyte enzyme concentration or activity	55027	HEATR3	ORPHA:124
HP:0030272	Abnormal erythrocyte enzyme concentration or activity	6160	RPL31	ORPHA:124
HP:0030272	Abnormal erythrocyte enzyme concentration or activity	6201	RPS7	ORPHA:124
HP:0030272	Abnormal erythrocyte enzyme concentration or activity	6155	RPL27	ORPHA:124
HP:0030272	Abnormal erythrocyte enzyme concentration or activity	6234	RPS28	ORPHA:124
HP:0030272	Abnormal erythrocyte enzyme concentration or activity	6135	RPL11	ORPHA:124
HP:0030272	Abnormal erythrocyte enzyme concentration or activity	6229	RPS24	ORPHA:124
HP:0030272	Abnormal erythrocyte enzyme concentration or activity	6229	RPS24	OMIM:610629
HP:0030272	Abnormal erythrocyte enzyme concentration or activity	6125	RPL5	ORPHA:124
HP:0030272	Abnormal erythrocyte enzyme concentration or activity	6204	RPS10	ORPHA:124
HP:0030272	Abnormal erythrocyte enzyme concentration or activity	2623	GATA1	ORPHA:124
HP:0030272	Abnormal erythrocyte enzyme concentration or activity	6133	RPL9	ORPHA:124
HP:0030272	Abnormal erythrocyte enzyme concentration or activity	6231	RPS26	ORPHA:124
HP:0030272	Abnormal erythrocyte enzyme concentration or activity	11224	RPL35	ORPHA:124
HP:0030272	Abnormal erythrocyte enzyme concentration or activity	6218	RPS17	ORPHA:124
HP:0030272	Abnormal erythrocyte enzyme concentration or activity	6154	RPL26	ORPHA:124
HP:0030272	Abnormal erythrocyte enzyme concentration or activity	6210	RPS15A	ORPHA:124
HP:0030272	Abnormal erythrocyte enzyme concentration or activity	90121	TSR2	ORPHA:124
HP:0030272	Abnormal erythrocyte enzyme concentration or activity	90121	TSR2	OMIM:300946
HP:0030272	Abnormal erythrocyte enzyme concentration or activity	6141	RPL18	ORPHA:124
HP:0030272	Abnormal erythrocyte enzyme concentration or activity	6235	RPS29	ORPHA:124
HP:0030272	Abnormal erythrocyte enzyme concentration or activity	6235	RPS29	OMIM:615909
HP:0030272	Abnormal erythrocyte enzyme concentration or activity	51816	ADA2	ORPHA:124
HP:0030272	Abnormal erythrocyte enzyme concentration or activity	2592	GALT	ORPHA:79239
HP:0030272	Abnormal erythrocyte enzyme concentration or activity	23230	VPS13A	ORPHA:2388
HP:0030272	Abnormal erythrocyte enzyme concentration or activity	3795	KHK	ORPHA:2056
HP:0030272	Abnormal erythrocyte enzyme concentration or activity	5631	PRPS1	ORPHA:1187
HP:0030272	Abnormal erythrocyte enzyme concentration or activity	210	ALAD	ORPHA:100924
HP:0030272	Abnormal erythrocyte enzyme concentration or activity	5256	PHKA2	ORPHA:264580
HP:0030272	Abnormal erythrocyte enzyme concentration or activity	5261	PHKG2	ORPHA:264580
HP:0030272	Abnormal erythrocyte enzyme concentration or activity	5277	PIGA	ORPHA:447
HP:0030272	Abnormal erythrocyte enzyme concentration or activity	100	ADA	OMIM:102700
HP:0030272	Abnormal erythrocyte enzyme concentration or activity	3145	HMBS	OMIM:620704
HP:0030272	Abnormal erythrocyte enzyme concentration or activity	3145	HMBS	OMIM:176000
HP:0030272	Abnormal erythrocyte enzyme concentration or activity	383	ARG1	OMIM:207800
HP:0030272	Abnormal erythrocyte enzyme concentration or activity	2582	GALE	OMIM:620776
HP:0030272	Abnormal erythrocyte enzyme concentration or activity	2729	GCLC	OMIM:230450
HP:0030272	Abnormal erythrocyte enzyme concentration or activity	1727	CYB5R3	OMIM:250800
HP:0030272	Abnormal erythrocyte enzyme concentration or activity	3704	ITPA	OMIM:613850
HP:0030272	Abnormal erythrocyte enzyme concentration or activity	7390	UROS	OMIM:263700
HP:0030272	Abnormal erythrocyte enzyme concentration or activity	2936	GSR	OMIM:618660
HP:0030272	Abnormal erythrocyte enzyme concentration or activity	226	ALDOA	OMIM:611881
HP:0030272	Abnormal erythrocyte enzyme concentration or activity	669	BPGM	OMIM:222800
HP:0030272	Abnormal erythrocyte enzyme concentration or activity	203	AK1	OMIM:612631
HP:0030272	Abnormal erythrocyte enzyme concentration or activity	3098	HK1	OMIM:235700
HP:0030272	Abnormal erythrocyte enzyme concentration or activity	2584	GALK1	OMIM:230200
HP:0030271	Reduced erythrocyte 2,3-diphosphoglycerate concentration	5213	PFKM	OMIM:232800
HP:0030271	Reduced erythrocyte 2,3-diphosphoglycerate concentration	5313	PKLR	OMIM:102900
HP:0030270	Elevated red cell adenosine deaminase activity	6138	RPL15	ORPHA:124
HP:0030270	Elevated red cell adenosine deaminase activity	6138	RPL15	OMIM:615550
HP:0030270	Elevated red cell adenosine deaminase activity	6224	RPS20	ORPHA:124
HP:0030270	Elevated red cell adenosine deaminase activity	6165	RPL35A	ORPHA:124
HP:0030270	Elevated red cell adenosine deaminase activity	6132	RPL8	ORPHA:124
HP:0030270	Elevated red cell adenosine deaminase activity	6223	RPS19	ORPHA:124
HP:0030270	Elevated red cell adenosine deaminase activity	6223	RPS19	OMIM:105650
HP:0030270	Elevated red cell adenosine deaminase activity	6232	RPS27	ORPHA:124
HP:0030270	Elevated red cell adenosine deaminase activity	55027	HEATR3	ORPHA:124
HP:0030270	Elevated red cell adenosine deaminase activity	6160	RPL31	ORPHA:124
HP:0030270	Elevated red cell adenosine deaminase activity	6201	RPS7	ORPHA:124
HP:0030270	Elevated red cell adenosine deaminase activity	6155	RPL27	ORPHA:124
HP:0030270	Elevated red cell adenosine deaminase activity	6234	RPS28	ORPHA:124
HP:0030270	Elevated red cell adenosine deaminase activity	6135	RPL11	ORPHA:124
HP:0030270	Elevated red cell adenosine deaminase activity	6229	RPS24	ORPHA:124
HP:0030270	Elevated red cell adenosine deaminase activity	6229	RPS24	OMIM:610629
HP:0030270	Elevated red cell adenosine deaminase activity	6125	RPL5	ORPHA:124
HP:0030270	Elevated red cell adenosine deaminase activity	6204	RPS10	ORPHA:124
HP:0030270	Elevated red cell adenosine deaminase activity	2623	GATA1	ORPHA:124
HP:0030270	Elevated red cell adenosine deaminase activity	6133	RPL9	ORPHA:124
HP:0030270	Elevated red cell adenosine deaminase activity	6231	RPS26	ORPHA:124
HP:0030270	Elevated red cell adenosine deaminase activity	11224	RPL35	ORPHA:124
HP:0030270	Elevated red cell adenosine deaminase activity	6218	RPS17	ORPHA:124
HP:0030270	Elevated red cell adenosine deaminase activity	6154	RPL26	ORPHA:124
HP:0030270	Elevated red cell adenosine deaminase activity	6210	RPS15A	ORPHA:124
HP:0030270	Elevated red cell adenosine deaminase activity	90121	TSR2	ORPHA:124
HP:0030270	Elevated red cell adenosine deaminase activity	90121	TSR2	OMIM:300946
HP:0030270	Elevated red cell adenosine deaminase activity	6141	RPL18	ORPHA:124
HP:0030270	Elevated red cell adenosine deaminase activity	6235	RPS29	ORPHA:124
HP:0030270	Elevated red cell adenosine deaminase activity	6235	RPS29	OMIM:615909
HP:0030270	Elevated red cell adenosine deaminase activity	51816	ADA2	ORPHA:124
HP:0030277	Abnormal vertebral pedicle morphology	4089	SMAD4	OMIM:139210
HP:0000046	Small scrotum	2737	GLI3	ORPHA:672
HP:0000046	Small scrotum	341640	FREM2	ORPHA:2052
HP:0000046	Small scrotum	80144	FRAS1	ORPHA:2052
HP:0000046	Small scrotum	23426	GRIP1	ORPHA:2052
HP:0000046	Small scrotum	23426	GRIP1	OMIM:617667
HP:0000046	Small scrotum	5447	POR	OMIM:201750
HP:0000046	Small scrotum	6662	SOX9	ORPHA:2138
HP:0000046	Small scrotum	6662	SOX9	OMIM:616425
HP:0000046	Small scrotum	6662	SOX9	OMIM:278850
HP:0000046	Small scrotum	2516	NR5A1	ORPHA:2138
HP:0000046	Small scrotum	6736	SRY	ORPHA:2138
HP:0000046	Small scrotum	25782	RAB3GAP2	OMIM:614225
HP:0000046	Small scrotum	201595	STT3B	OMIM:615597
HP:0000046	Small scrotum	201595	STT3B	ORPHA:370924
HP:0000046	Small scrotum	22931	RAB18	OMIM:614222
HP:0000046	Small scrotum	29957	SLC25A24	OMIM:612289
HP:0000046	Small scrotum	10056	FARSB	OMIM:613658
HP:0000046	Small scrotum	7473	WNT3	ORPHA:3301
HP:0000046	Small scrotum	340419	RSPO2	ORPHA:3301
HP:0000046	Small scrotum	9496	TBX4	ORPHA:3301
HP:0000046	Small scrotum	100033413	SNORD116-1	OMIM:176270
HP:0000046	Small scrotum	8924	HERC2	OMIM:176270
HP:0000046	Small scrotum	23742	NPAP1	OMIM:176270
HP:0000046	Small scrotum	338433	SNORD115-1	OMIM:176270
HP:0000046	Small scrotum	54551	MAGEL2	OMIM:176270
HP:0000046	Small scrotum	54551	MAGEL2	ORPHA:98754
HP:0000046	Small scrotum	54551	MAGEL2	ORPHA:177904
HP:0000046	Small scrotum	54551	MAGEL2	ORPHA:177901
HP:0000046	Small scrotum	54551	MAGEL2	ORPHA:398069
HP:0000046	Small scrotum	7681	MKRN3	OMIM:176270
HP:0000046	Small scrotum	145624	PWAR1	OMIM:176270
HP:0000046	Small scrotum	3653	IPW	OMIM:176270
HP:0000046	Small scrotum	791114	PWRN1	OMIM:176270
HP:0000046	Small scrotum	84172	POLR1B	ORPHA:861
HP:0000046	Small scrotum	9533	POLR1C	ORPHA:861
HP:0000046	Small scrotum	51082	POLR1D	ORPHA:861
HP:0000046	Small scrotum	6949	TCOF1	ORPHA:861
HP:0000046	Small scrotum	4983	OPHN1	OMIM:300486
HP:0000046	Small scrotum	51124	IER3IP1	OMIM:614231
HP:0000046	Small scrotum	23522	KAT6B	ORPHA:85201
HP:0000046	Small scrotum	23522	KAT6B	OMIM:606170
HP:0000046	Small scrotum	3664	IRF6	OMIM:119500
HP:0000046	Small scrotum	3664	IRF6	ORPHA:1300
HP:0000046	Small scrotum	84162	BLTP1	OMIM:617822
HP:0000046	Small scrotum	4010	LMX1B	ORPHA:495818
HP:0000046	Small scrotum	6812	STXBP1	ORPHA:495818
HP:0000046	Small scrotum	6492	SIM1	ORPHA:398079
HP:0000046	Small scrotum	22858	CILK1	OMIM:612651
HP:0000046	Small scrotum	9968	MED12	ORPHA:2728
HP:0000046	Small scrotum	9968	MED12	OMIM:300895
HP:0000046	Small scrotum	10982	MAPRE2	OMIM:616734
HP:0000046	Small scrotum	10982	MAPRE2	ORPHA:2505
HP:0000046	Small scrotum	5818	NECTIN1	ORPHA:3253
HP:0000046	Small scrotum	2068	ERCC2	OMIM:610756
HP:0000046	Small scrotum	6638	SNRPN	ORPHA:98754
HP:0000046	Small scrotum	6638	SNRPN	ORPHA:177904
HP:0000046	Small scrotum	6638	SNRPN	ORPHA:177901
HP:0000046	Small scrotum	4692	NDN	ORPHA:98754
HP:0000046	Small scrotum	4692	NDN	ORPHA:177904
HP:0000046	Small scrotum	4692	NDN	ORPHA:177901
HP:0000046	Small scrotum	4948	OCA2	ORPHA:98754
HP:0000046	Small scrotum	4948	OCA2	ORPHA:177904
HP:0000046	Small scrotum	4948	OCA2	ORPHA:177901
HP:0000046	Small scrotum	3703	STT3A	ORPHA:370921
HP:0000046	Small scrotum	7259	TSPYL1	ORPHA:168593
HP:0000046	Small scrotum	546	ATRX	OMIM:309580
HP:0000046	Small scrotum	6261	RYR1	ORPHA:98905
HP:0000046	Small scrotum	7476	WNT7A	OMIM:276820
HP:0000046	Small scrotum	4621	MYH3	ORPHA:2990
HP:0000046	Small scrotum	1146	CHRNG	ORPHA:2990
HP:0000046	Small scrotum	84295	PHF6	ORPHA:127
HP:0000046	Small scrotum	79087	ALG12	OMIM:607143
HP:0000046	Small scrotum	1717	DHCR7	OMIM:270400
HP:0000046	Small scrotum	3730	ANOS1	OMIM:308700
HP:0000046	Small scrotum	10908	PNPLA6	OMIM:245800
HP:0000046	Small scrotum	6926	TBX3	OMIM:181450
HP:0000046	Small scrotum	652	BMP4	OMIM:607932
HP:0000046	Small scrotum	8295	TRRAP	OMIM:618454
HP:0000046	Small scrotum	372	ARCN1	OMIM:617164
HP:0000046	Small scrotum	60529	ALX4	ORPHA:228390
HP:0000046	Small scrotum	128637	TBC1D20	OMIM:615663
HP:0000046	Small scrotum	203068	TUBB	ORPHA:2505
HP:0000046	Small scrotum	26040	SETBP1	OMIM:269150
HP:0000046	Small scrotum	23594	ORC6	OMIM:613803
HP:0000046	Small scrotum	6716	SRD5A2	ORPHA:753
HP:0000046	Small scrotum	64864	RFX7	OMIM:620330
HP:0030284	Triangular tongue	55679	LIMS2	OMIM:616827
HP:0030283	Partial absence of the septum pellucidum	90952	ESAM	OMIM:620371
HP:0030282	Posterior rib gap	6628	SNRPB	ORPHA:1393
HP:0030282	Posterior rib gap	6628	SNRPB	OMIM:117650
HP:0030282	Posterior rib gap	9382	COG1	OMIM:611209
HP:0030282	Posterior rib gap	9382	COG1	ORPHA:263508
HP:0030281	Cervical C3/C4 vertebral fusion	9573	GDF3	OMIM:613702
HP:0030280	Rib gap	6628	SNRPB	OMIM:117650
HP:0030280	Rib gap	9382	COG1	OMIM:611209
HP:0030280	Rib gap	9382	COG1	ORPHA:263508
HP:0030289	Flattened femoral epiphysis	1280	COL2A1	OMIM:271700
HP:0030289	Flattened femoral epiphysis	1280	COL2A1	OMIM:609162
HP:0030289	Flattened femoral epiphysis	55325	UFSP2	OMIM:142669
HP:0030289	Flattened femoral epiphysis	3835	KIF22	ORPHA:93360
HP:0030289	Flattened femoral epiphysis	3835	KIF22	OMIM:603546
HP:0030289	Flattened femoral epiphysis	91252	SLC39A13	ORPHA:157965
HP:0030289	Flattened femoral epiphysis	91252	SLC39A13	OMIM:612350
HP:0030289	Flattened femoral epiphysis	84572	GNPTG	OMIM:252605
HP:0030289	Flattened femoral epiphysis	8838	CCN6	ORPHA:1159
HP:0030289	Flattened femoral epiphysis	176	ACAN	OMIM:608361
HP:0030289	Flattened femoral epiphysis	1297	COL9A1	OMIM:614134
HP:0030289	Flattened femoral epiphysis	1297	COL9A1	OMIM:614135
HP:0030289	Flattened femoral epiphysis	7227	TRPS1	OMIM:190350
HP:0030289	Flattened femoral epiphysis	9496	TBX4	OMIM:147891
HP:0030289	Flattened femoral epiphysis	4796	TONSL	ORPHA:93357
HP:0030289	Flattened femoral epiphysis	4796	TONSL	OMIM:271510
HP:0030289	Flattened femoral epiphysis	1836	SLC26A2	ORPHA:93307
HP:0030289	Flattened femoral epiphysis	59341	TRPV4	ORPHA:93314
HP:0030292	Tibial metaphyseal irregularity	89970	RSPRY1	ORPHA:457395
HP:0030293	Fibular metaphyseal irregularity	89970	RSPRY1	ORPHA:457395
HP:0030294	Metaphyseal chondromatosis of tibia	3417	IDH1	ORPHA:99646
HP:0030295	Metaphyseal chondromatosis of femur	3417	IDH1	ORPHA:99646
HP:0030296	Metaphyseal chondromatosis of radius	3417	IDH1	ORPHA:99646
HP:0030297	Metaphyseal chondromatosis of ulna	3417	IDH1	ORPHA:99646
HP:0030299	Abnormal distal femoral metaphysis morphology	51025	PAM16	OMIM:613320
HP:0030299	Abnormal distal femoral metaphysis morphology	2146	EZH2	OMIM:277590
HP:0030299	Abnormal distal femoral metaphysis morphology	649	BMP1	OMIM:614856
HP:0030299	Abnormal distal femoral metaphysis morphology	64841	GNPNAT1	OMIM:619598
HP:0030299	Abnormal distal femoral metaphysis morphology	26040	SETBP1	OMIM:269150
HP:0030299	Abnormal distal femoral metaphysis morphology	1300	COL10A1	ORPHA:174
HP:0030291	Lower-limb metaphyseal irregularity	59341	TRPV4	OMIM:113500
HP:0030291	Lower-limb metaphyseal irregularity	79848	CSPP1	ORPHA:397715
HP:0030291	Lower-limb metaphyseal irregularity	9786	KIAA0586	ORPHA:397715
HP:0030291	Lower-limb metaphyseal irregularity	1300	COL10A1	ORPHA:174
HP:0030291	Lower-limb metaphyseal irregularity	755	CFAP410	OMIM:602271
HP:0030291	Lower-limb metaphyseal irregularity	6729	SRP54	OMIM:260400
HP:0030291	Lower-limb metaphyseal irregularity	51119	SBDS	OMIM:260400
HP:0030291	Lower-limb metaphyseal irregularity	134218	DNAJC21	OMIM:260400
HP:0030291	Lower-limb metaphyseal irregularity	6137	RPL13	OMIM:618728
HP:0030291	Lower-limb metaphyseal irregularity	89970	RSPRY1	ORPHA:457395
HP:0030290	Unossified sacrum	1280	COL2A1	ORPHA:93296
HP:0030290	Unossified sacrum	168667	BMPER	OMIM:608022
HP:0009358	Abnormality of the proximal phalanx of the 3rd finger	8200	GDF5	OMIM:113100
HP:0009358	Abnormality of the proximal phalanx of the 3rd finger	22856	CHSY1	ORPHA:363417
HP:0009447	Aplasia/Hypoplasia of the phalanges of the 3rd finger	1280	COL2A1	OMIM:271700
HP:0009447	Aplasia/Hypoplasia of the phalanges of the 3rd finger	2778	GNAS	ORPHA:79445
HP:0009447	Aplasia/Hypoplasia of the phalanges of the 3rd finger	50814	NSDHL	OMIM:308050
HP:0009447	Aplasia/Hypoplasia of the phalanges of the 3rd finger	8200	GDF5	OMIM:615072
HP:0009447	Aplasia/Hypoplasia of the phalanges of the 3rd finger	8200	GDF5	OMIM:113100
HP:0009417	Pseudoepiphyses of the 3rd finger	8200	GDF5	OMIM:113100
HP:0003819	Death in childhood	2074	ERCC6	OMIM:133540
HP:0003819	Death in childhood	2074	ERCC6	OMIM:214150
HP:0003819	Death in childhood	1738	DLD	OMIM:246900
HP:0003819	Death in childhood	2266	FGG	OMIM:202400
HP:0003819	Death in childhood	2243	FGA	OMIM:202400
HP:0003819	Death in childhood	2244	FGB	OMIM:202400
HP:0003819	Death in childhood	79717	PPCS	OMIM:618189
HP:0003819	Death in childhood	374291	NDUFS7	OMIM:618224
HP:0003819	Death in childhood	4723	NDUFV1	OMIM:618225
HP:0003819	Death in childhood	4574	MT-TS1	OMIM:220110
HP:0003819	Death in childhood	4570	MT-TN	OMIM:220110
HP:0003819	Death in childhood	6834	SURF1	OMIM:220110
HP:0003819	Death in childhood	8425	LTBP4	OMIM:613177
HP:0003819	Death in childhood	100151683	RNU4ATAC	OMIM:210710
HP:0003819	Death in childhood	201595	STT3B	OMIM:615597
HP:0003819	Death in childhood	55505	NOP10	OMIM:620425
HP:0003819	Death in childhood	51412	ACTL6B	OMIM:618468
HP:0003819	Death in childhood	4967	OGDH	OMIM:203740
HP:0003819	Death in childhood	58	ACTA1	OMIM:620265
HP:0003819	Death in childhood	58	ACTA1	OMIM:620278
HP:0003819	Death in childhood	10667	FARS2	OMIM:614946
HP:0003819	Death in childhood	5830	PEX5	OMIM:214110
HP:0003819	Death in childhood	10102	TSFM	OMIM:610505
HP:0003819	Death in childhood	197131	UBR1	OMIM:243800
HP:0003819	Death in childhood	55610	VPS50	OMIM:619685
HP:0003819	Death in childhood	3074	HEXB	OMIM:268800
HP:0003819	Death in childhood	23149	FCHO1	OMIM:619164
HP:0003819	Death in childhood	477	ATP1A2	OMIM:619605
HP:0003819	Death in childhood	1841	DTYMK	OMIM:619847
HP:0003819	Death in childhood	790	CAD	OMIM:616457
HP:0003819	Death in childhood	2670	GFAP	OMIM:203450
HP:0003819	Death in childhood	79631	EFL1	OMIM:617941
HP:0003819	Death in childhood	65082	VPS33A	OMIM:617303
HP:0003819	Death in childhood	30008	EFEMP2	OMIM:614437
HP:0003819	Death in childhood	157922	CAMSAP1	OMIM:620316
HP:0003819	Death in childhood	2068	ERCC2	OMIM:610756
HP:0003819	Death in childhood	79158	GNPTAB	OMIM:252500
HP:0003819	Death in childhood	2067	ERCC1	OMIM:610758
HP:0003819	Death in childhood	5189	PEX1	OMIM:214100
HP:0003819	Death in childhood	79068	FTO	OMIM:612938
HP:0003819	Death in childhood	4784	NFIX	OMIM:602535
HP:0003819	Death in childhood	8647	ABCB11	OMIM:601847
HP:0003819	Death in childhood	4703	NEB	OMIM:619334
HP:0003819	Death in childhood	60561	RINT1	OMIM:618641
HP:0003819	Death in childhood	100131801	PET100	OMIM:619055
HP:0003819	Death in childhood	7084	TK2	OMIM:609560
HP:0003819	Death in childhood	23229	ARHGEF9	OMIM:300607
HP:0003819	Death in childhood	1801	DPH1	OMIM:616901
HP:0003819	Death in childhood	8792	TNFRSF11A	OMIM:612301
HP:0003819	Death in childhood	80746	TSEN2	OMIM:612389
HP:0003819	Death in childhood	55681	SCYL2	OMIM:618766
HP:0003819	Death in childhood	8772	FADD	OMIM:613759
HP:0003819	Death in childhood	3913	LAMB2	OMIM:609049
HP:0003819	Death in childhood	6606	SMN1	OMIM:253300
HP:0003819	Death in childhood	91647	ATPAF2	OMIM:604273
HP:0003819	Death in childhood	8802	SUCLG1	OMIM:245400
HP:0003819	Death in childhood	9377	COX5A	OMIM:619064
HP:0003819	Death in childhood	27316	RBMX	OMIM:309555
HP:0003819	Death in childhood	3155	HMGCL	OMIM:246450
HP:0003819	Death in childhood	22872	SEC31A	OMIM:618651
HP:0003819	Death in childhood	54968	TMEM70	OMIM:614052
HP:0003819	Death in childhood	497661	C18orf32	OMIM:619985
HP:0003819	Death in childhood	64121	RRAGC	OMIM:620609
HP:0003819	Death in childhood	51300	TIMMDC1	OMIM:618251
HP:0003819	Death in childhood	7174	TPP2	OMIM:619220
HP:0003819	Death in childhood	4714	NDUFB8	OMIM:618252
HP:0003819	Death in childhood	6785	ELOVL4	OMIM:614457
HP:0003819	Death in childhood	113278	SLC52A3	OMIM:211530
HP:0003819	Death in childhood	1174	AP1S1	OMIM:609313
HP:0003819	Death in childhood	5373	PMM2	OMIM:212065
HP:0003819	Death in childhood	7490	WT1	OMIM:608978
HP:0003819	Death in childhood	11340	EXOSC8	OMIM:616081
HP:0003819	Death in childhood	57217	TTC7A	OMIM:243150
HP:0003819	Death in childhood	3852	KRT5	OMIM:619599
HP:0003819	Death in childhood	84879	MFSD2A	OMIM:616486
HP:0003819	Death in childhood	11222	MRPL3	OMIM:614582
HP:0003819	Death in childhood	1182	CLCN3	OMIM:619517
HP:0003819	Death in childhood	5828	PEX2	OMIM:614867
HP:0003819	Death in childhood	8021	NUP214	OMIM:618426
HP:0003819	Death in childhood	538	ATP7A	OMIM:309400
HP:0003819	Death in childhood	90624	LYRM7	OMIM:615838
HP:0003819	Death in childhood	79751	SLC25A22	OMIM:609304
HP:0003819	Death in childhood	84992	PIGY	OMIM:616809
HP:0003819	Death in childhood	51360	MBTPS2	OMIM:308205
HP:0003819	Death in childhood	2571	GAD1	OMIM:619124
HP:0003819	Death in childhood	8567	MADD	OMIM:619004
HP:0003819	Death in childhood	8567	MADD	OMIM:619005
HP:0003819	Death in childhood	374354	NHLRC2	OMIM:618278
HP:0003819	Death in childhood	128240	NAXE	OMIM:617186
HP:0003819	Death in childhood	10651	MTX2	OMIM:619127
HP:0003819	Death in childhood	57169	ZNFX1	OMIM:619644
HP:0003819	Death in childhood	60528	ELAC2	OMIM:615440
HP:0003819	Death in childhood	84340	GFM2	OMIM:618397
HP:0003819	Death in childhood	5788	PTPRC	OMIM:619924
HP:0003819	Death in childhood	440138	ALG11	OMIM:613661
HP:0003819	Death in childhood	28976	ACAD9	OMIM:611126
HP:0003819	Death in childhood	57038	RARS2	OMIM:611523
HP:0003819	Death in childhood	917	CD3G	OMIM:615607
HP:0003819	Death in childhood	57158	JPH2	OMIM:619492
HP:0003819	Death in childhood	4351	MPI	OMIM:602579
HP:0003819	Death in childhood	9342	SNAP29	OMIM:609528
HP:0003819	Death in childhood	10577	NPC2	OMIM:607625
HP:0003819	Death in childhood	5873	RAB27A	OMIM:607624
HP:0003819	Death in childhood	1736	DKC1	OMIM:301108
HP:0003819	Death in childhood	10084	PQBP1	OMIM:309500
HP:0003819	Death in childhood	55739	NAXD	OMIM:618321
HP:0003819	Death in childhood	5331	PLCB3	OMIM:618961
HP:0003819	Death in childhood	6324	SCN1B	OMIM:617350
HP:0003819	Death in childhood	4938	OAS1	OMIM:618042
HP:0003819	Death in childhood	26503	SLC17A5	OMIM:269920
HP:0003819	Death in childhood	9197	SLC33A1	OMIM:614482
HP:0003819	Death in childhood	6603	SMARCD2	OMIM:617475
HP:0003819	Death in childhood	79147	FKRP	OMIM:613153
HP:0003819	Death in childhood	111	ADCY5	OMIM:619651
HP:0003819	Death in childhood	84833	ATP5MK	OMIM:618683
HP:0003819	Death in childhood	27040	LAT	OMIM:617514
HP:0003819	Death in childhood	729920	CRPPA	OMIM:614643
HP:0003819	Death in childhood	29960	MRM2	OMIM:618567
HP:0003819	Death in childhood	55005	RMND1	OMIM:614922
HP:0003819	Death in childhood	283989	TSEN54	OMIM:277470
HP:0003819	Death in childhood	25913	POT1	OMIM:620368
HP:0003819	Death in childhood	84153	RNASEH2C	OMIM:610329
HP:0003819	Death in childhood	5631	PRPS1	OMIM:300661
HP:0003819	Death in childhood	3909	LAMA3	OMIM:619784
HP:0003819	Death in childhood	57505	AARS2	OMIM:614096
HP:0003819	Death in childhood	3735	KARS1	OMIM:619147
HP:0003819	Death in childhood	10533	ATG7	OMIM:619422
HP:0003819	Death in childhood	56947	MFF	OMIM:617086
HP:0003819	Death in childhood	205327	C2orf69	OMIM:619423
HP:0003819	Death in childhood	18	ABAT	OMIM:613163
HP:0003819	Death in childhood	133686	NADK2	OMIM:616034
HP:0003819	Death in childhood	51025	PAM16	OMIM:613320
HP:0003819	Death in childhood	10535	RNASEH2A	OMIM:610333
HP:0003819	Death in childhood	871	SERPINH1	OMIM:613848
HP:0009566	Short distal phalanx of the 2nd finger	1280	COL2A1	OMIM:271700
HP:0009566	Short distal phalanx of the 2nd finger	658	BMPR1B	OMIM:616849
HP:0009948	Duplication of the distal phalanx of the 2nd finger	2263	FGFR2	OMIM:101400
HP:0009948	Duplication of the distal phalanx of the 2nd finger	7291	TWIST1	OMIM:101400
HP:0009542	Abnormality of the distal phalanx of the 2nd finger	9896	FIG4	OMIM:216340
HP:0009542	Abnormality of the distal phalanx of the 2nd finger	50814	NSDHL	OMIM:308050
HP:0009542	Abnormality of the distal phalanx of the 2nd finger	1280	COL2A1	OMIM:271700
HP:0009542	Abnormality of the distal phalanx of the 2nd finger	658	BMPR1B	OMIM:616849
HP:0009542	Abnormality of the distal phalanx of the 2nd finger	2263	FGFR2	OMIM:101400
HP:0009542	Abnormality of the distal phalanx of the 2nd finger	7291	TWIST1	OMIM:101400
HP:0009963	Duplication of the middle phalanx of the 3rd finger	22856	CHSY1	ORPHA:363417
HP:0009316	Abnormal 3rd finger phalanx morphology	1280	COL2A1	OMIM:271700
HP:0009316	Abnormal 3rd finger phalanx morphology	2778	GNAS	ORPHA:79445
HP:0009316	Abnormal 3rd finger phalanx morphology	8200	GDF5	OMIM:113100
HP:0009316	Abnormal 3rd finger phalanx morphology	50814	NSDHL	OMIM:308050
HP:0009316	Abnormal 3rd finger phalanx morphology	22856	CHSY1	ORPHA:363417
HP:0009316	Abnormal 3rd finger phalanx morphology	2263	FGFR2	OMIM:101400
HP:0009316	Abnormal 3rd finger phalanx morphology	7291	TWIST1	OMIM:101400
HP:0009461	Short 3rd finger	1280	COL2A1	OMIM:271700
HP:0009461	Short 3rd finger	2778	GNAS	ORPHA:79445
HP:0009461	Short 3rd finger	8200	GDF5	OMIM:113100
HP:0009349	Enlarged epiphysis of the proximal phalanx of the 3rd finger	8200	GDF5	OMIM:113100
HP:0004172	Abnormality of the middle phalanx of the 3rd finger	8200	GDF5	OMIM:113100
HP:0004172	Abnormality of the middle phalanx of the 3rd finger	50814	NSDHL	OMIM:308050
HP:0004172	Abnormality of the middle phalanx of the 3rd finger	22856	CHSY1	ORPHA:363417
HP:0009438	Absent middle phalanx of 3rd finger	50814	NSDHL	OMIM:308050
HP:0009317	Deviation of the 3rd finger	3549	IHH	OMIM:112500
HP:0009317	Deviation of the 3rd finger	2263	FGFR2	OMIM:149730
HP:0009317	Deviation of the 3rd finger	51651	PTRH2	OMIM:616263
HP:0009317	Deviation of the 3rd finger	51651	PTRH2	ORPHA:456312
HP:0009317	Deviation of the 3rd finger	8200	GDF5	OMIM:113100
HP:0009317	Deviation of the 3rd finger	91461	PKDCC	OMIM:618821
HP:0009317	Deviation of the 3rd finger	90459	ERI1	OMIM:620663
HP:0009317	Deviation of the 3rd finger	388015	RTL1	ORPHA:96334
HP:0009317	Deviation of the 3rd finger	8788	DLK1	ORPHA:96334
HP:0009317	Deviation of the 3rd finger	55384	MEG3	ORPHA:96334
HP:0009317	Deviation of the 3rd finger	5293	PIK3CD	ORPHA:221139
HP:0009317	Deviation of the 3rd finger	90417	KNSTRN	ORPHA:221139
HP:0009439	Short middle phalanx of the 3rd finger	8200	GDF5	OMIM:615072
HP:0009439	Short middle phalanx of the 3rd finger	8200	GDF5	OMIM:113100
HP:0009357	Abnormality of the distal phalanx of the 3rd finger	1280	COL2A1	OMIM:271700
HP:0009357	Abnormality of the distal phalanx of the 3rd finger	2778	GNAS	ORPHA:79445
HP:0009357	Abnormality of the distal phalanx of the 3rd finger	50814	NSDHL	OMIM:308050
HP:0009357	Abnormality of the distal phalanx of the 3rd finger	2263	FGFR2	OMIM:101400
HP:0009357	Abnormality of the distal phalanx of the 3rd finger	7291	TWIST1	OMIM:101400
HP:0009319	Joint contracture of the 3rd finger	1836	SLC26A2	ORPHA:93307
HP:0009319	Joint contracture of the 3rd finger	81857	MED25	ORPHA:464738
HP:0009319	Joint contracture of the 3rd finger	8243	SMC1A	OMIM:301044
HP:0009319	Joint contracture of the 3rd finger	1277	COL1A1	OMIM:130060
HP:0009319	Joint contracture of the 3rd finger	6909	TBX2	OMIM:618223
HP:0009319	Joint contracture of the 3rd finger	23327	NEDD4L	OMIM:617201
HP:0009319	Joint contracture of the 3rd finger	8985	PLOD3	OMIM:612394
HP:0004150	Abnormal 3rd finger morphology	1280	COL2A1	OMIM:271700
HP:0004150	Abnormal 3rd finger morphology	2778	GNAS	ORPHA:79445
HP:0004150	Abnormal 3rd finger morphology	50814	NSDHL	OMIM:308050
HP:0004150	Abnormal 3rd finger morphology	6910	TBX5	OMIM:142900
HP:0004150	Abnormal 3rd finger morphology	2019	EN1	OMIM:619218
HP:0004150	Abnormal 3rd finger morphology	6926	TBX3	OMIM:181450
HP:0004150	Abnormal 3rd finger morphology	3549	IHH	OMIM:112500
HP:0004150	Abnormal 3rd finger morphology	2263	FGFR2	OMIM:149730
HP:0004150	Abnormal 3rd finger morphology	51651	PTRH2	OMIM:616263
HP:0004150	Abnormal 3rd finger morphology	51651	PTRH2	ORPHA:456312
HP:0004150	Abnormal 3rd finger morphology	8200	GDF5	OMIM:113100
HP:0004150	Abnormal 3rd finger morphology	1836	SLC26A2	ORPHA:93307
HP:0004150	Abnormal 3rd finger morphology	81857	MED25	ORPHA:464738
HP:0004150	Abnormal 3rd finger morphology	8243	SMC1A	OMIM:301044
HP:0004150	Abnormal 3rd finger morphology	1277	COL1A1	OMIM:130060
HP:0004150	Abnormal 3rd finger morphology	6909	TBX2	OMIM:618223
HP:0004150	Abnormal 3rd finger morphology	23327	NEDD4L	OMIM:617201
HP:0004150	Abnormal 3rd finger morphology	8985	PLOD3	OMIM:612394
HP:0004150	Abnormal 3rd finger morphology	2737	GLI3	ORPHA:672
HP:0004150	Abnormal 3rd finger morphology	22856	CHSY1	ORPHA:363417
HP:0004150	Abnormal 3rd finger morphology	7291	TWIST1	OMIM:101400
HP:0004150	Abnormal 3rd finger morphology	91461	PKDCC	OMIM:618821
HP:0004150	Abnormal 3rd finger morphology	90459	ERI1	OMIM:620663
HP:0004150	Abnormal 3rd finger morphology	388015	RTL1	ORPHA:96334
HP:0004150	Abnormal 3rd finger morphology	8788	DLK1	ORPHA:96334
HP:0004150	Abnormal 3rd finger morphology	55384	MEG3	ORPHA:96334
HP:0004150	Abnormal 3rd finger morphology	5293	PIK3CD	ORPHA:221139
HP:0004150	Abnormal 3rd finger morphology	90417	KNSTRN	ORPHA:221139
HP:0009501	Abnormality of the epiphysis of the proximal phalanx of the 2nd finger	8200	GDF5	OMIM:113100
HP:0009587	Triangular shaped proximal phalanx of the 2nd finger	8200	GDF5	OMIM:113100
HP:0009597	Short proximal phalanx of the 2nd finger	56992	KIF15	ORPHA:261323
HP:0004122	Midline defect of the nose	257	ALX3	ORPHA:391474
HP:0004122	Midline defect of the nose	341640	FREM2	ORPHA:2052
HP:0004122	Midline defect of the nose	80144	FRAS1	ORPHA:2052
HP:0004122	Midline defect of the nose	80144	FRAS1	OMIM:219000
HP:0004122	Midline defect of the nose	23426	GRIP1	ORPHA:2052
HP:0004122	Midline defect of the nose	5727	PTCH1	OMIM:610828
HP:0004122	Midline defect of the nose	1947	EFNB1	ORPHA:1520
HP:0004122	Midline defect of the nose	219844	HYLS1	OMIM:236680
HP:0004122	Midline defect of the nose	57688	ZSWIM6	OMIM:603671
HP:0004122	Midline defect of the nose	9361	LONP1	ORPHA:1458
HP:0004122	Midline defect of the nose	7030	TFE3	OMIM:301066
HP:0004122	Midline defect of the nose	9496	TBX4	ORPHA:261279
HP:0004122	Midline defect of the nose	60529	ALX4	ORPHA:228390
HP:0004122	Midline defect of the nose	8092	ALX1	ORPHA:306542
HP:0004122	Midline defect of the nose	81788	NUAK2	OMIM:619452
HP:0004122	Midline defect of the nose	4763	NF1	ORPHA:139474
HP:0004122	Midline defect of the nose	158326	FREM1	ORPHA:217266
HP:0004122	Midline defect of the nose	158326	FREM1	OMIM:608980
HP:0004122	Midline defect of the nose	26012	NSMF	OMIM:614838
HP:0009544	Abnormality of the proximal phalanx of the 2nd finger	8200	GDF5	OMIM:113100
HP:0009544	Abnormality of the proximal phalanx of the 2nd finger	658	BMPR1B	OMIM:609441
HP:0009544	Abnormality of the proximal phalanx of the 2nd finger	56992	KIF15	ORPHA:261323
HP:0009546	Triangular shaped phalanges of the 2nd finger	658	BMPR1B	OMIM:112600
HP:0009546	Triangular shaped phalanges of the 2nd finger	650	BMP2	OMIM:112600
HP:0009546	Triangular shaped phalanges of the 2nd finger	8200	GDF5	OMIM:112600
HP:0009546	Triangular shaped phalanges of the 2nd finger	8200	GDF5	OMIM:113100
HP:0009500	Abnormality of the epiphysis of the middle phalanx of the 2nd finger	8200	GDF5	OMIM:113100
HP:0009577	Short middle phalanx of the 2nd finger	6910	TBX5	OMIM:142900
HP:0009577	Short middle phalanx of the 2nd finger	4613	MYCN	ORPHA:391641
HP:0009577	Short middle phalanx of the 2nd finger	10847	SRCAP	OMIM:136140
HP:0009577	Short middle phalanx of the 2nd finger	2077	ERF	OMIM:617180
HP:0009577	Short middle phalanx of the 2nd finger	860	RUNX2	OMIM:119600
HP:0009577	Short middle phalanx of the 2nd finger	860	RUNX2	OMIM:156510
HP:0009577	Short middle phalanx of the 2nd finger	8200	GDF5	OMIM:615072
HP:0009577	Short middle phalanx of the 2nd finger	8200	GDF5	OMIM:113100
HP:0009577	Short middle phalanx of the 2nd finger	3239	HOXD13	ORPHA:93409
HP:0009577	Short middle phalanx of the 2nd finger	27152	INTU	OMIM:617926
HP:0009543	Abnormality of the middle phalanx of the 2nd finger	658	BMPR1B	OMIM:112600
HP:0009543	Abnormality of the middle phalanx of the 2nd finger	658	BMPR1B	OMIM:616849
HP:0009543	Abnormality of the middle phalanx of the 2nd finger	658	BMPR1B	ORPHA:93396
HP:0009543	Abnormality of the middle phalanx of the 2nd finger	650	BMP2	OMIM:112600
HP:0009543	Abnormality of the middle phalanx of the 2nd finger	650	BMP2	ORPHA:93396
HP:0009543	Abnormality of the middle phalanx of the 2nd finger	8200	GDF5	OMIM:112600
HP:0009543	Abnormality of the middle phalanx of the 2nd finger	8200	GDF5	ORPHA:93396
HP:0009543	Abnormality of the middle phalanx of the 2nd finger	727857	BHLHA9	OMIM:609432
HP:0009543	Abnormality of the middle phalanx of the 2nd finger	9896	FIG4	OMIM:216340
HP:0009543	Abnormality of the middle phalanx of the 2nd finger	50814	NSDHL	OMIM:308050
HP:0009543	Abnormality of the middle phalanx of the 2nd finger	9742	IFT140	OMIM:266920
HP:0009543	Abnormality of the middle phalanx of the 2nd finger	6910	TBX5	OMIM:142900
HP:0009543	Abnormality of the middle phalanx of the 2nd finger	4613	MYCN	ORPHA:391641
HP:0009543	Abnormality of the middle phalanx of the 2nd finger	10847	SRCAP	OMIM:136140
HP:0009543	Abnormality of the middle phalanx of the 2nd finger	2077	ERF	OMIM:617180
HP:0009543	Abnormality of the middle phalanx of the 2nd finger	860	RUNX2	OMIM:119600
HP:0009543	Abnormality of the middle phalanx of the 2nd finger	860	RUNX2	OMIM:156510
HP:0009543	Abnormality of the middle phalanx of the 2nd finger	3239	HOXD13	ORPHA:93409
HP:0009543	Abnormality of the middle phalanx of the 2nd finger	27152	INTU	OMIM:617926
HP:0009534	Triangular epiphysis of the proximal phalanx of the 2nd finger	8200	GDF5	OMIM:113100
HP:0009527	Enlarged epiphysis of the proximal phalanx of the 2nd finger	8200	GDF5	OMIM:113100
HP:0004180	Short distal phalanx of the 3rd finger	1280	COL2A1	OMIM:271700
HP:0004180	Short distal phalanx of the 3rd finger	2778	GNAS	ORPHA:79445
HP:0009541	Abnormality of the phalanges of the 2nd finger	9896	FIG4	OMIM:216340
HP:0009541	Abnormality of the phalanges of the 2nd finger	50814	NSDHL	OMIM:308050
HP:0009541	Abnormality of the phalanges of the 2nd finger	1280	COL2A1	OMIM:271700
HP:0009541	Abnormality of the phalanges of the 2nd finger	658	BMPR1B	OMIM:112600
HP:0009541	Abnormality of the phalanges of the 2nd finger	658	BMPR1B	OMIM:616849
HP:0009541	Abnormality of the phalanges of the 2nd finger	658	BMPR1B	ORPHA:93396
HP:0009541	Abnormality of the phalanges of the 2nd finger	650	BMP2	OMIM:112600
HP:0009541	Abnormality of the phalanges of the 2nd finger	650	BMP2	ORPHA:93396
HP:0009541	Abnormality of the phalanges of the 2nd finger	8200	GDF5	OMIM:112600
HP:0009541	Abnormality of the phalanges of the 2nd finger	8200	GDF5	ORPHA:93396
HP:0009541	Abnormality of the phalanges of the 2nd finger	727857	BHLHA9	OMIM:609432
HP:0009541	Abnormality of the phalanges of the 2nd finger	9742	IFT140	OMIM:266920
HP:0009541	Abnormality of the phalanges of the 2nd finger	6910	TBX5	OMIM:142900
HP:0009541	Abnormality of the phalanges of the 2nd finger	4613	MYCN	ORPHA:391641
HP:0009541	Abnormality of the phalanges of the 2nd finger	10847	SRCAP	OMIM:136140
HP:0009541	Abnormality of the phalanges of the 2nd finger	2077	ERF	OMIM:617180
HP:0009541	Abnormality of the phalanges of the 2nd finger	860	RUNX2	OMIM:119600
HP:0009541	Abnormality of the phalanges of the 2nd finger	860	RUNX2	OMIM:156510
HP:0009541	Abnormality of the phalanges of the 2nd finger	3239	HOXD13	ORPHA:93409
HP:0009541	Abnormality of the phalanges of the 2nd finger	27152	INTU	OMIM:617926
HP:0009541	Abnormality of the phalanges of the 2nd finger	56992	KIF15	ORPHA:261323
HP:0009541	Abnormality of the phalanges of the 2nd finger	2263	FGFR2	OMIM:101400
HP:0009541	Abnormality of the phalanges of the 2nd finger	7291	TWIST1	OMIM:101400
HP:0009467	Radial deviation of the 2nd finger	658	BMPR1B	OMIM:112600
HP:0009467	Radial deviation of the 2nd finger	650	BMP2	OMIM:112600
HP:0009467	Radial deviation of the 2nd finger	8200	GDF5	OMIM:112600
HP:0009467	Radial deviation of the 2nd finger	23483	TGDS	ORPHA:1388
HP:0009467	Radial deviation of the 2nd finger	3549	IHH	OMIM:112500
HP:0009467	Radial deviation of the 2nd finger	2316	FLNA	OMIM:304120
HP:0009467	Radial deviation of the 2nd finger	124583	CANT1	OMIM:251450
HP:0004188	Abnormal 4th finger morphology	23291	FBXW11	OMIM:618914
HP:0004188	Abnormal 4th finger morphology	25942	SIN3A	OMIM:613406
HP:0004188	Abnormal 4th finger morphology	10765	KDM5B	OMIM:618109
HP:0004188	Abnormal 4th finger morphology	11011	TLK2	OMIM:618050
HP:0004188	Abnormal 4th finger morphology	6909	TBX2	OMIM:618223
HP:0004188	Abnormal 4th finger morphology	90459	ERI1	OMIM:620662
HP:0004188	Abnormal 4th finger morphology	80816	ASXL3	OMIM:615485
HP:0004188	Abnormal 4th finger morphology	3549	IHH	OMIM:112500
HP:0004188	Abnormal 4th finger morphology	6926	TBX3	OMIM:181450
HP:0004188	Abnormal 4th finger morphology	1280	COL2A1	OMIM:271700
HP:0004188	Abnormal 4th finger morphology	9241	NOG	OMIM:186500
HP:0004188	Abnormal 4th finger morphology	8200	GDF5	OMIM:615072
HP:0004188	Abnormal 4th finger morphology	2122	MECOM	OMIM:616738
HP:0004188	Abnormal 4th finger morphology	2737	GLI3	ORPHA:672
HP:0004188	Abnormal 4th finger morphology	1301	COL11A1	OMIM:154780
HP:0004188	Abnormal 4th finger morphology	6638	SNRPN	ORPHA:177907
HP:0004188	Abnormal 4th finger morphology	3767	KCNJ11	ORPHA:79134
HP:0004188	Abnormal 4th finger morphology	79731	NARS2	ORPHA:79134
HP:0004188	Abnormal 4th finger morphology	6833	ABCC8	ORPHA:79134
HP:0004188	Abnormal 4th finger morphology	5293	PIK3CD	ORPHA:221139
HP:0004188	Abnormal 4th finger morphology	90417	KNSTRN	ORPHA:221139
HP:0009274	Joint contracture of the 4th finger	23291	FBXW11	OMIM:618914
HP:0009274	Joint contracture of the 4th finger	25942	SIN3A	OMIM:613406
HP:0009274	Joint contracture of the 4th finger	10765	KDM5B	OMIM:618109
HP:0009274	Joint contracture of the 4th finger	11011	TLK2	OMIM:618050
HP:0009274	Joint contracture of the 4th finger	6909	TBX2	OMIM:618223
HP:0009274	Joint contracture of the 4th finger	90459	ERI1	OMIM:620662
HP:0009274	Joint contracture of the 4th finger	80816	ASXL3	OMIM:615485
HP:0009468	Deviation of the 2nd finger	658	BMPR1B	OMIM:112600
HP:0009468	Deviation of the 2nd finger	650	BMP2	OMIM:112600
HP:0009468	Deviation of the 2nd finger	8200	GDF5	OMIM:112600
HP:0009468	Deviation of the 2nd finger	8200	GDF5	OMIM:113100
HP:0009468	Deviation of the 2nd finger	51651	PTRH2	OMIM:616263
HP:0009468	Deviation of the 2nd finger	51651	PTRH2	ORPHA:456312
HP:0009468	Deviation of the 2nd finger	3209	HOXA13	OMIM:140000
HP:0009468	Deviation of the 2nd finger	29123	ANKRD11	OMIM:148050
HP:0009468	Deviation of the 2nd finger	23483	TGDS	OMIM:616145
HP:0009468	Deviation of the 2nd finger	3549	IHH	OMIM:112500
HP:0009468	Deviation of the 2nd finger	2316	FLNA	OMIM:304120
HP:0009468	Deviation of the 2nd finger	124583	CANT1	OMIM:251450
HP:0009468	Deviation of the 2nd finger	81857	MED25	ORPHA:464738
HP:0009468	Deviation of the 2nd finger	80207	OPA3	ORPHA:67036
HP:0009468	Deviation of the 2nd finger	10236	HNRNPR	OMIM:620073
HP:0009468	Deviation of the 2nd finger	9968	MED12	ORPHA:93932
HP:0009468	Deviation of the 2nd finger	90459	ERI1	OMIM:620663
HP:0009468	Deviation of the 2nd finger	9742	IFT140	OMIM:266920
HP:0009468	Deviation of the 2nd finger	5293	PIK3CD	ORPHA:221139
HP:0009468	Deviation of the 2nd finger	90417	KNSTRN	ORPHA:221139
HP:0009468	Deviation of the 2nd finger	22856	CHSY1	ORPHA:363417
HP:0009468	Deviation of the 2nd finger	55790	CSGALNACT1	OMIM:618870
HP:0009468	Deviation of the 2nd finger	93986	FOXP2	ORPHA:251061
HP:0004100	Abnormal 2nd finger morphology	51651	PTRH2	OMIM:616263
HP:0004100	Abnormal 2nd finger morphology	51651	PTRH2	ORPHA:456312
HP:0004100	Abnormal 2nd finger morphology	3209	HOXA13	OMIM:140000
HP:0004100	Abnormal 2nd finger morphology	29123	ANKRD11	OMIM:148050
HP:0004100	Abnormal 2nd finger morphology	23483	TGDS	OMIM:616145
HP:0004100	Abnormal 2nd finger morphology	3549	IHH	OMIM:112500
HP:0004100	Abnormal 2nd finger morphology	2316	FLNA	OMIM:304120
HP:0004100	Abnormal 2nd finger morphology	124583	CANT1	OMIM:251450
HP:0004100	Abnormal 2nd finger morphology	81857	MED25	ORPHA:464738
HP:0004100	Abnormal 2nd finger morphology	80207	OPA3	ORPHA:67036
HP:0004100	Abnormal 2nd finger morphology	8200	GDF5	ORPHA:93384
HP:0004100	Abnormal 2nd finger morphology	8200	GDF5	OMIM:113100
HP:0004100	Abnormal 2nd finger morphology	658	BMPR1B	ORPHA:93384
HP:0004100	Abnormal 2nd finger morphology	6910	TBX5	OMIM:142900
HP:0004100	Abnormal 2nd finger morphology	9896	FIG4	OMIM:216340
HP:0004100	Abnormal 2nd finger morphology	650	BMP2	OMIM:112600
HP:0004100	Abnormal 2nd finger morphology	2239	GPC4	ORPHA:373
HP:0004100	Abnormal 2nd finger morphology	2719	GPC3	ORPHA:373
HP:0004100	Abnormal 2nd finger morphology	2077	ERF	OMIM:617180
HP:0004100	Abnormal 2nd finger morphology	4212	MEIS2	OMIM:600987
HP:0004100	Abnormal 2nd finger morphology	10265	IRX5	OMIM:611174
HP:0004100	Abnormal 2nd finger morphology	3955	LFNG	OMIM:609813
HP:0004100	Abnormal 2nd finger morphology	1277	COL1A1	OMIM:130060
HP:0004100	Abnormal 2nd finger morphology	6134	RPL10	OMIM:300998
HP:0004100	Abnormal 2nd finger morphology	23327	NEDD4L	OMIM:617201
HP:0004100	Abnormal 2nd finger morphology	8985	PLOD3	OMIM:612394
HP:0004100	Abnormal 2nd finger morphology	50814	NSDHL	OMIM:308050
HP:0004100	Abnormal 2nd finger morphology	1280	COL2A1	OMIM:271700
HP:0004100	Abnormal 2nd finger morphology	727857	BHLHA9	OMIM:609432
HP:0004100	Abnormal 2nd finger morphology	4613	MYCN	ORPHA:391641
HP:0004100	Abnormal 2nd finger morphology	10847	SRCAP	OMIM:136140
HP:0004100	Abnormal 2nd finger morphology	860	RUNX2	OMIM:119600
HP:0004100	Abnormal 2nd finger morphology	860	RUNX2	OMIM:156510
HP:0004100	Abnormal 2nd finger morphology	3239	HOXD13	ORPHA:93409
HP:0004100	Abnormal 2nd finger morphology	27152	INTU	OMIM:617926
HP:0004100	Abnormal 2nd finger morphology	56992	KIF15	ORPHA:261323
HP:0004100	Abnormal 2nd finger morphology	2263	FGFR2	OMIM:101400
HP:0004100	Abnormal 2nd finger morphology	7291	TWIST1	OMIM:101400
HP:0004100	Abnormal 2nd finger morphology	10236	HNRNPR	OMIM:620073
HP:0004100	Abnormal 2nd finger morphology	9968	MED12	ORPHA:93932
HP:0004100	Abnormal 2nd finger morphology	90459	ERI1	OMIM:620663
HP:0004100	Abnormal 2nd finger morphology	9742	IFT140	OMIM:266920
HP:0004100	Abnormal 2nd finger morphology	5293	PIK3CD	ORPHA:221139
HP:0004100	Abnormal 2nd finger morphology	90417	KNSTRN	ORPHA:221139
HP:0004100	Abnormal 2nd finger morphology	22856	CHSY1	ORPHA:363417
HP:0004100	Abnormal 2nd finger morphology	55790	CSGALNACT1	OMIM:618870
HP:0004100	Abnormal 2nd finger morphology	93986	FOXP2	ORPHA:251061
HP:0004112	Midline nasal groove	257	ALX3	ORPHA:391474
HP:0004112	Midline nasal groove	341640	FREM2	ORPHA:2052
HP:0004112	Midline nasal groove	80144	FRAS1	ORPHA:2052
HP:0004112	Midline nasal groove	80144	FRAS1	OMIM:219000
HP:0004112	Midline nasal groove	23426	GRIP1	ORPHA:2052
HP:0009495	Pseudoepiphysis of the 2nd finger	8200	GDF5	ORPHA:93384
HP:0009495	Pseudoepiphysis of the 2nd finger	8200	GDF5	OMIM:113100
HP:0009495	Pseudoepiphysis of the 2nd finger	658	BMPR1B	ORPHA:93384
HP:0009535	Aplasia of the 2nd finger	6910	TBX5	OMIM:142900
HP:0009535	Aplasia of the 2nd finger	9896	FIG4	OMIM:216340
HP:0009535	Aplasia of the 2nd finger	50814	NSDHL	OMIM:308050
HP:0009535	Aplasia of the 2nd finger	9742	IFT140	OMIM:266920
HP:0009535	Aplasia of the 2nd finger	658	BMPR1B	OMIM:609441
HP:0009280	Short 4th finger	1280	COL2A1	OMIM:271700
HP:0009280	Short 4th finger	9241	NOG	OMIM:186500
HP:0009280	Short 4th finger	8200	GDF5	OMIM:615072
HP:0009280	Short 4th finger	2122	MECOM	OMIM:616738
HP:0009172	Abnormal 4th finger phalanx morphology	1280	COL2A1	OMIM:271700
HP:0009172	Abnormal 4th finger phalanx morphology	8200	GDF5	OMIM:615072
HP:0009172	Abnormal 4th finger phalanx morphology	2122	MECOM	OMIM:616738
HP:0009172	Abnormal 4th finger phalanx morphology	9241	NOG	OMIM:186500
HP:0004197	Symphalangism of the 4th finger	9241	NOG	OMIM:186500
HP:0009284	Abnormality of the proximal phalanx of the 4th finger	9241	NOG	OMIM:186500
HP:0033503	Elevated CSF fumarate concentration	1327	COX4I1	OMIM:619060
HP:0033504	Elevated circulating fumarate concentration	7385	UQCRC2	OMIM:615160
HP:0033505	Livedo reticularis	5965	RECQL	OMIM:620370
HP:0033505	Livedo reticularis	875	CBS	ORPHA:394
HP:0033505	Livedo reticularis	51816	ADA2	OMIM:182410
HP:0033505	Livedo reticularis	84196	USP48	ORPHA:96253
HP:0033505	Livedo reticularis	7157	TP53	ORPHA:96253
HP:0033505	Livedo reticularis	9101	USP8	ORPHA:96253
HP:0033505	Livedo reticularis	64072	CDH23	ORPHA:96253
HP:0033505	Livedo reticularis	2908	NR3C1	ORPHA:96253
HP:0033505	Livedo reticularis	673	BRAF	ORPHA:96253
HP:0033505	Livedo reticularis	546	ATRX	ORPHA:96253
HP:0033505	Livedo reticularis	2982	GUCY1A1	OMIM:615750
HP:0033505	Livedo reticularis	81575	APOLD1	OMIM:620715
HP:0033505	Livedo reticularis	23590	PDSS1	OMIM:614651
HP:0033505	Livedo reticularis	340061	STING1	OMIM:615934
HP:0033505	Livedo reticularis	4629	MYH11	OMIM:132900
HP:0033505	Livedo reticularis	59	ACTA2	OMIM:611788
HP:0033505	Livedo reticularis	56244	BTNL2	ORPHA:797
HP:0033505	Livedo reticularis	3123	HLA-DRB1	ORPHA:797
HP:0033508	EBV meningitis	939	CD27	OMIM:615122
HP:0033509	EBV encephalitis	939	CD27	OMIM:615122
HP:0033510	Cutaneous horn	940	CD28	OMIM:620901
HP:0033522	Cerebral cavernous malformation	490	ATP2B1	OMIM:619910
HP:0033522	Cerebral cavernous malformation	5290	PIK3CA	OMIM:619538
HP:0033522	Cerebral cavernous malformation	5290	PIK3CA	ORPHA:221061
HP:0033522	Cerebral cavernous malformation	11235	PDCD10	ORPHA:221061
HP:0033522	Cerebral cavernous malformation	11235	PDCD10	OMIM:603285
HP:0033522	Cerebral cavernous malformation	83605	CCM2	ORPHA:221061
HP:0033522	Cerebral cavernous malformation	83605	CCM2	OMIM:603284
HP:0033522	Cerebral cavernous malformation	889	KRIT1	ORPHA:221061
HP:0033522	Cerebral cavernous malformation	889	KRIT1	OMIM:116860
HP:0033524	Abnormal sperm axoneme morphology	375307	CATIP	OMIM:619379
HP:0033524	Abnormal sperm axoneme morphology	122481	AK7	OMIM:617965
HP:0033524	Abnormal sperm axoneme morphology	83844	USP26	OMIM:301101
HP:0033524	Abnormal sperm axoneme morphology	57728	WDR19	OMIM:619867
HP:0033524	Abnormal sperm axoneme morphology	79925	SPEF2	OMIM:618751
HP:0033524	Abnormal sperm axoneme morphology	401024	FSIP2	OMIM:618153
HP:0033524	Abnormal sperm axoneme morphology	89876	CFAP91	OMIM:619177
HP:0033524	Abnormal sperm axoneme morphology	84074	QRICH2	OMIM:618341
HP:0033525	Absent sperm axoneme central pair complex	122481	AK7	OMIM:617965
HP:0033525	Absent sperm axoneme central pair complex	83844	USP26	OMIM:301101
HP:0033525	Absent sperm axoneme central pair complex	57728	WDR19	OMIM:619867
HP:0033525	Absent sperm axoneme central pair complex	79925	SPEF2	OMIM:618751
HP:0033525	Absent sperm axoneme central pair complex	401024	FSIP2	OMIM:618153
HP:0033525	Absent sperm axoneme central pair complex	89876	CFAP91	OMIM:619177
HP:0033525	Absent sperm axoneme central pair complex	84074	QRICH2	OMIM:618341
HP:0033526	Limited ankle dorsiflexion	9997	SCO2	OMIM:604377
HP:0033534	Increased circulating brain natriuretic peptide concentration	10699	CORIN	OMIM:620734
HP:0033534	Increased circulating brain natriuretic peptide concentration	9529	BAG5	OMIM:619747
HP:0033534	Increased circulating brain natriuretic peptide concentration	7139	TNNT2	OMIM:601494
HP:0033535	Reduced platelet dense granules	63915	BLOC1S5	OMIM:619172
HP:0033535	Reduced platelet dense granules	64376	IKZF5	OMIM:619130
HP:0033536	Reduced platelet alpha granules	64376	IKZF5	OMIM:619130
HP:0033536	Reduced platelet alpha granules	2623	GATA1	OMIM:314050
HP:0012700	Abnormal large intestine physiology	2261	FGFR3	OMIM:616482
HP:0012700	Abnormal large intestine physiology	23259	DDHD2	OMIM:615033
HP:0012700	Abnormal large intestine physiology	23446	SLC44A1	OMIM:618868
HP:0012700	Abnormal large intestine physiology	4001	LMNB1	OMIM:169500
HP:0012700	Abnormal large intestine physiology	6476	SI	ORPHA:35122
HP:0012700	Abnormal large intestine physiology	81839	VANGL1	ORPHA:3027
HP:0012700	Abnormal large intestine physiology	80199	FUZ	ORPHA:3027
HP:0012700	Abnormal large intestine physiology	9839	ZEB2	ORPHA:261537
HP:0012700	Abnormal large intestine physiology	9839	ZEB2	ORPHA:261552
HP:0012700	Abnormal large intestine physiology	23503	ZFYVE26	OMIM:270700
HP:0012700	Abnormal large intestine physiology	5354	PLP1	ORPHA:99015
HP:0012700	Abnormal large intestine physiology	10479	SLC9A6	OMIM:300243
HP:0012700	Abnormal large intestine physiology	613	BCR	ORPHA:261330
HP:0012700	Abnormal large intestine physiology	1399	CRKL	ORPHA:261330
HP:0012700	Abnormal large intestine physiology	5594	MAPK1	ORPHA:261330
HP:0012700	Abnormal large intestine physiology	79803	HPS6	OMIM:614075
HP:0012700	Abnormal large intestine physiology	79152	FA2H	ORPHA:171629
HP:0012700	Abnormal large intestine physiology	5610	EIF2AK2	OMIM:618877
HP:0012700	Abnormal large intestine physiology	6299	SALL1	ORPHA:857
HP:0012700	Abnormal large intestine physiology	51339	DACT1	ORPHA:857
HP:0012700	Abnormal large intestine physiology	6904	TBCD	ORPHA:496641
HP:0012700	Abnormal large intestine physiology	6904	TBCD	OMIM:617193
HP:0012700	Abnormal large intestine physiology	410	ARSA	ORPHA:309271
HP:0012700	Abnormal large intestine physiology	5660	PSAP	ORPHA:309271
HP:0012700	Abnormal large intestine physiology	28982	FLVCR1	ORPHA:88628
HP:0012700	Abnormal large intestine physiology	339855	KY	OMIM:617114
HP:0012700	Abnormal large intestine physiology	215	ABCD1	ORPHA:139399
HP:0012700	Abnormal large intestine physiology	215	ABCD1	OMIM:300100
HP:0012700	Abnormal large intestine physiology	7415	VCP	ORPHA:329478
HP:0012700	Abnormal large intestine physiology	1312	COMT	ORPHA:567
HP:0012700	Abnormal large intestine physiology	221037	JMJD1C	ORPHA:567
HP:0012700	Abnormal large intestine physiology	2812	GP1BB	ORPHA:567
HP:0012700	Abnormal large intestine physiology	6239	RREB1	ORPHA:567
HP:0012700	Abnormal large intestine physiology	6899	TBX1	ORPHA:567
HP:0012700	Abnormal large intestine physiology	7290	HIRA	ORPHA:567
HP:0012700	Abnormal large intestine physiology	9632	SEC24C	ORPHA:567
HP:0012700	Abnormal large intestine physiology	7353	UFD1	ORPHA:567
HP:0012700	Abnormal large intestine physiology	421	ARVCF	ORPHA:567
HP:0012700	Abnormal large intestine physiology	8626	TP63	ORPHA:93930
HP:0012700	Abnormal large intestine physiology	3670	ISL1	ORPHA:93930
HP:0012700	Abnormal large intestine physiology	2332	FMR1	ORPHA:93256
HP:0012700	Abnormal large intestine physiology	2332	FMR1	OMIM:300623
HP:0012700	Abnormal large intestine physiology	25778	DSTYK	ORPHA:101003
HP:0012700	Abnormal large intestine physiology	6253	RTN2	ORPHA:100993
HP:0012700	Abnormal large intestine physiology	51271	UBAP1	ORPHA:100993
HP:0012700	Abnormal large intestine physiology	5654	HTRA1	OMIM:600142
HP:0012700	Abnormal large intestine physiology	80217	CFAP43	OMIM:236690
HP:0012700	Abnormal large intestine physiology	6329	SCN4A	ORPHA:682
HP:0012700	Abnormal large intestine physiology	23400	ATP13A2	ORPHA:306674
HP:0012700	Abnormal large intestine physiology	9860	LRIG2	ORPHA:2704
HP:0012700	Abnormal large intestine physiology	60495	HPSE2	ORPHA:2704
HP:0012700	Abnormal large intestine physiology	10528	NOP56	ORPHA:276198
HP:0012700	Abnormal large intestine physiology	2859	GPR35	ORPHA:171
HP:0012700	Abnormal large intestine physiology	10507	SEMA4D	ORPHA:171
HP:0012700	Abnormal large intestine physiology	4485	MST1	ORPHA:171
HP:0012700	Abnormal large intestine physiology	6925	TCF4	ORPHA:171
HP:0012700	Abnormal large intestine physiology	546	ATRX	ORPHA:100075
HP:0012700	Abnormal large intestine physiology	2717	GLA	OMIM:301500
HP:0012700	Abnormal large intestine physiology	2550	GABBR1	OMIM:620502
HP:0012700	Abnormal large intestine physiology	1760	DMPK	ORPHA:589821
HP:0012700	Abnormal large intestine physiology	23162	MAPK8IP3	OMIM:618443
HP:0012700	Abnormal large intestine physiology	2132	EXT2	OMIM:616682
HP:0012701	Bowel urgency	25778	DSTYK	ORPHA:101003
HP:0012701	Bowel urgency	546	ATRX	ORPHA:100075
HP:0012702	Tenesmus	2717	GLA	OMIM:301500
HP:0012703	Abnormal subarachnoid space morphology	94	ACVRL1	OMIM:600376
HP:0012703	Abnormal subarachnoid space morphology	94	ACVRL1	ORPHA:774
HP:0012703	Abnormal subarachnoid space morphology	2658	GDF2	ORPHA:774
HP:0012703	Abnormal subarachnoid space morphology	4089	SMAD4	ORPHA:774
HP:0012703	Abnormal subarachnoid space morphology	4089	SMAD4	ORPHA:91387
HP:0012703	Abnormal subarachnoid space morphology	2022	ENG	ORPHA:774
HP:0012703	Abnormal subarachnoid space morphology	2022	ENG	OMIM:187300
HP:0012703	Abnormal subarachnoid space morphology	2022	ENG	ORPHA:231160
HP:0012703	Abnormal subarachnoid space morphology	2548	GAA	OMIM:232300
HP:0012703	Abnormal subarachnoid space morphology	4088	SMAD3	OMIM:613795
HP:0012703	Abnormal subarachnoid space morphology	4088	SMAD3	ORPHA:91387
HP:0012703	Abnormal subarachnoid space morphology	5921	RASA1	ORPHA:90307
HP:0012703	Abnormal subarachnoid space morphology	2159	F10	ORPHA:328
HP:0012703	Abnormal subarachnoid space morphology	51816	ADA2	ORPHA:820
HP:0012703	Abnormal subarachnoid space morphology	351	APP	OMIM:605714
HP:0012703	Abnormal subarachnoid space morphology	81704	DOCK8	OMIM:243700
HP:0012703	Abnormal subarachnoid space morphology	7543	ZFX	OMIM:301118
HP:0012703	Abnormal subarachnoid space morphology	6786	STIM1	OMIM:185070
HP:0012703	Abnormal subarachnoid space morphology	55901	THSD1	OMIM:618734
HP:0012703	Abnormal subarachnoid space morphology	55901	THSD1	ORPHA:231160
HP:0012703	Abnormal subarachnoid space morphology	4629	MYH11	ORPHA:91387
HP:0012703	Abnormal subarachnoid space morphology	7046	TGFBR1	ORPHA:91387
HP:0012703	Abnormal subarachnoid space morphology	7048	TGFBR2	ORPHA:91387
HP:0012703	Abnormal subarachnoid space morphology	4015	LOX	ORPHA:91387
HP:0012703	Abnormal subarachnoid space morphology	4087	SMAD2	ORPHA:91387
HP:0012703	Abnormal subarachnoid space morphology	7043	TGFB3	ORPHA:91387
HP:0012703	Abnormal subarachnoid space morphology	7042	TGFB2	ORPHA:91387
HP:0012703	Abnormal subarachnoid space morphology	2200	FBN1	ORPHA:91387
HP:0012703	Abnormal subarachnoid space morphology	59	ACTA2	ORPHA:91387
HP:0012703	Abnormal subarachnoid space morphology	5592	PRKG1	ORPHA:91387
HP:0012703	Abnormal subarachnoid space morphology	2301	FOXE3	ORPHA:91387
HP:0012703	Abnormal subarachnoid space morphology	4144	MAT2A	ORPHA:91387
HP:0012703	Abnormal subarachnoid space morphology	23493	HEY2	ORPHA:91387
HP:0012703	Abnormal subarachnoid space morphology	8076	MFAP5	ORPHA:91387
HP:0012703	Abnormal subarachnoid space morphology	4638	MYLK	ORPHA:91387
HP:0012703	Abnormal subarachnoid space morphology	79875	THSD4	ORPHA:91387
HP:0012703	Abnormal subarachnoid space morphology	2006	ELN	ORPHA:91387
HP:0012703	Abnormal subarachnoid space morphology	2811	GP1BA	ORPHA:853
HP:0012703	Abnormal subarachnoid space morphology	2812	GP1BB	ORPHA:853
HP:0012703	Abnormal subarachnoid space morphology	3674	ITGA2B	ORPHA:853
HP:0012703	Abnormal subarachnoid space morphology	3673	ITGA2	ORPHA:853
HP:0012703	Abnormal subarachnoid space morphology	135228	CD109	ORPHA:853
HP:0012703	Abnormal subarachnoid space morphology	3690	ITGB3	ORPHA:853
HP:0012703	Abnormal subarachnoid space morphology	7049	TGFBR3	ORPHA:231160
HP:0012703	Abnormal subarachnoid space morphology	1281	COL3A1	ORPHA:231160
HP:0012703	Abnormal subarachnoid space morphology	83854	ANGPTL6	ORPHA:231160
HP:0012703	Abnormal subarachnoid space morphology	8831	SYNGAP1	ORPHA:544254
HP:0012703	Abnormal subarachnoid space morphology	2639	GCDH	ORPHA:25
HP:0012703	Abnormal subarachnoid space morphology	9131	AIFM1	OMIM:300232
HP:0012703	Abnormal subarachnoid space morphology	51241	COX16	OMIM:619355
HP:0012703	Abnormal subarachnoid space morphology	23250	ATP11A	OMIM:619851
HP:0012703	Abnormal subarachnoid space morphology	284098	PIGW	OMIM:616025
HP:0012703	Abnormal subarachnoid space morphology	9197	SLC33A1	OMIM:614482
HP:0012703	Abnormal subarachnoid space morphology	26128	KIFBP	OMIM:609460
HP:0012703	Abnormal subarachnoid space morphology	51322	WAC	ORPHA:466950
HP:0012703	Abnormal subarachnoid space morphology	9526	MPDU1	ORPHA:79323
HP:0012703	Abnormal subarachnoid space morphology	501	ALDH7A1	ORPHA:3006
HP:0012703	Abnormal subarachnoid space morphology	11212	PLPBP	ORPHA:3006
HP:0012703	Abnormal subarachnoid space morphology	85365	ALG2	ORPHA:79326
HP:0012703	Abnormal subarachnoid space morphology	79796	ALG9	ORPHA:79328
HP:0012703	Abnormal subarachnoid space morphology	191	AHCY	ORPHA:88618
HP:0012703	Abnormal subarachnoid space morphology	440138	ALG11	ORPHA:280071
HP:0012703	Abnormal subarachnoid space morphology	5277	PIGA	OMIM:300868
HP:0012703	Abnormal subarachnoid space morphology	1523	CUX1	OMIM:618330
HP:0012703	Abnormal subarachnoid space morphology	1841	DTYMK	OMIM:619847
HP:0012703	Abnormal subarachnoid space morphology	4552	MTRR	ORPHA:2169
HP:0012703	Abnormal subarachnoid space morphology	10352	WARS2	ORPHA:572798
HP:0012703	Abnormal subarachnoid space morphology	6638	SNRPN	ORPHA:177907
HP:0012703	Abnormal subarachnoid space morphology	2902	GRIN1	ORPHA:208447
HP:0012703	Abnormal subarachnoid space morphology	1759	DNM1	OMIM:620352
HP:0012703	Abnormal subarachnoid space morphology	161725	OTUD7A	OMIM:620790
HP:0012703	Abnormal subarachnoid space morphology	283989	TSEN54	ORPHA:2524
HP:0012703	Abnormal subarachnoid space morphology	116461	TSEN15	ORPHA:2524
HP:0012703	Abnormal subarachnoid space morphology	79042	TSEN34	ORPHA:2524
HP:0012703	Abnormal subarachnoid space morphology	80746	TSEN2	ORPHA:2524
HP:0012703	Abnormal subarachnoid space morphology	51091	SEPSECS	ORPHA:2524
HP:0012703	Abnormal subarachnoid space morphology	64802	NMNAT1	OMIM:619260
HP:0012703	Abnormal subarachnoid space morphology	1107	CHD3	OMIM:618205
HP:0012703	Abnormal subarachnoid space morphology	4558	MT-TF	ORPHA:550
HP:0012703	Abnormal subarachnoid space morphology	4572	MT-TQ	ORPHA:550
HP:0012703	Abnormal subarachnoid space morphology	4512	MT-CO1	ORPHA:550
HP:0012703	Abnormal subarachnoid space morphology	4513	MT-CO2	ORPHA:550
HP:0012703	Abnormal subarachnoid space morphology	4514	MT-CO3	ORPHA:550
HP:0012703	Abnormal subarachnoid space morphology	4578	MT-TW	ORPHA:550
HP:0012703	Abnormal subarachnoid space morphology	4540	MT-ND5	ORPHA:550
HP:0012703	Abnormal subarachnoid space morphology	4541	MT-ND6	ORPHA:550
HP:0012703	Abnormal subarachnoid space morphology	4535	MT-ND1	ORPHA:550
HP:0012703	Abnormal subarachnoid space morphology	4538	MT-ND4	ORPHA:550
HP:0012703	Abnormal subarachnoid space morphology	4567	MT-TL1	ORPHA:550
HP:0012703	Abnormal subarachnoid space morphology	4574	MT-TS1	ORPHA:550
HP:0012703	Abnormal subarachnoid space morphology	4575	MT-TS2	ORPHA:550
HP:0012703	Abnormal subarachnoid space morphology	4564	MT-TH	ORPHA:550
HP:0012703	Abnormal subarachnoid space morphology	4677	NARS1	OMIM:619092
HP:0012703	Abnormal subarachnoid space morphology	79989	IFT56	OMIM:619534
HP:0012703	Abnormal subarachnoid space morphology	79087	ALG12	ORPHA:79324
HP:0012703	Abnormal subarachnoid space morphology	3417	IDH1	ORPHA:99646
HP:0012703	Abnormal subarachnoid space morphology	100151683	RNU4ATAC	OMIM:210710
HP:0012703	Abnormal subarachnoid space morphology	3897	L1CAM	OMIM:304100
HP:0012703	Abnormal subarachnoid space morphology	23007	PLCH1	OMIM:619895
HP:0012703	Abnormal subarachnoid space morphology	4123	MAN2C1	OMIM:619775
HP:0012703	Abnormal subarachnoid space morphology	1630	DCC	OMIM:617542
HP:0012703	Abnormal subarachnoid space morphology	84823	LMNB2	OMIM:616540
HP:0012703	Abnormal subarachnoid space morphology	1000	CDH2	OMIM:618929
HP:0012703	Abnormal subarachnoid space morphology	4361	MRE11	ORPHA:251347
HP:0012704	Widened subarachnoid space	2639	GCDH	ORPHA:25
HP:0012704	Widened subarachnoid space	9131	AIFM1	OMIM:300232
HP:0012704	Widened subarachnoid space	51241	COX16	OMIM:619355
HP:0012704	Widened subarachnoid space	23250	ATP11A	OMIM:619851
HP:0012704	Widened subarachnoid space	284098	PIGW	OMIM:616025
HP:0012704	Widened subarachnoid space	9197	SLC33A1	OMIM:614482
HP:0012704	Widened subarachnoid space	26128	KIFBP	OMIM:609460
HP:0012704	Widened subarachnoid space	51322	WAC	ORPHA:466950
HP:0012704	Widened subarachnoid space	9526	MPDU1	ORPHA:79323
HP:0012704	Widened subarachnoid space	501	ALDH7A1	ORPHA:3006
HP:0012704	Widened subarachnoid space	11212	PLPBP	ORPHA:3006
HP:0012704	Widened subarachnoid space	85365	ALG2	ORPHA:79326
HP:0012704	Widened subarachnoid space	79796	ALG9	ORPHA:79328
HP:0012704	Widened subarachnoid space	191	AHCY	ORPHA:88618
HP:0012704	Widened subarachnoid space	440138	ALG11	ORPHA:280071
HP:0012704	Widened subarachnoid space	5277	PIGA	OMIM:300868
HP:0012704	Widened subarachnoid space	1523	CUX1	OMIM:618330
HP:0012704	Widened subarachnoid space	1841	DTYMK	OMIM:619847
HP:0012704	Widened subarachnoid space	4552	MTRR	ORPHA:2169
HP:0012704	Widened subarachnoid space	10352	WARS2	ORPHA:572798
HP:0012704	Widened subarachnoid space	6638	SNRPN	ORPHA:177907
HP:0012704	Widened subarachnoid space	2902	GRIN1	ORPHA:208447
HP:0012704	Widened subarachnoid space	1759	DNM1	OMIM:620352
HP:0012704	Widened subarachnoid space	161725	OTUD7A	OMIM:620790
HP:0012704	Widened subarachnoid space	283989	TSEN54	ORPHA:2524
HP:0012704	Widened subarachnoid space	116461	TSEN15	ORPHA:2524
HP:0012704	Widened subarachnoid space	79042	TSEN34	ORPHA:2524
HP:0012704	Widened subarachnoid space	80746	TSEN2	ORPHA:2524
HP:0012704	Widened subarachnoid space	51091	SEPSECS	ORPHA:2524
HP:0012704	Widened subarachnoid space	64802	NMNAT1	OMIM:619260
HP:0012704	Widened subarachnoid space	1107	CHD3	OMIM:618205
HP:0012704	Widened subarachnoid space	4558	MT-TF	ORPHA:550
HP:0012704	Widened subarachnoid space	4572	MT-TQ	ORPHA:550
HP:0012704	Widened subarachnoid space	4512	MT-CO1	ORPHA:550
HP:0012704	Widened subarachnoid space	4513	MT-CO2	ORPHA:550
HP:0012704	Widened subarachnoid space	4514	MT-CO3	ORPHA:550
HP:0012704	Widened subarachnoid space	4578	MT-TW	ORPHA:550
HP:0012704	Widened subarachnoid space	4540	MT-ND5	ORPHA:550
HP:0012704	Widened subarachnoid space	4541	MT-ND6	ORPHA:550
HP:0012704	Widened subarachnoid space	4535	MT-ND1	ORPHA:550
HP:0012704	Widened subarachnoid space	4538	MT-ND4	ORPHA:550
HP:0012704	Widened subarachnoid space	4567	MT-TL1	ORPHA:550
HP:0012704	Widened subarachnoid space	4574	MT-TS1	ORPHA:550
HP:0012704	Widened subarachnoid space	4575	MT-TS2	ORPHA:550
HP:0012704	Widened subarachnoid space	4564	MT-TH	ORPHA:550
HP:0012704	Widened subarachnoid space	4677	NARS1	OMIM:619092
HP:0012704	Widened subarachnoid space	79989	IFT56	OMIM:619534
HP:0012704	Widened subarachnoid space	79087	ALG12	ORPHA:79324
HP:0012704	Widened subarachnoid space	3417	IDH1	ORPHA:99646
HP:0012705	Abnormal metabolic brain imaging by MRS	38	ACAT1	ORPHA:134
HP:0012705	Abnormal metabolic brain imaging by MRS	135	ADORA2A	ORPHA:363549
HP:0012705	Abnormal metabolic brain imaging by MRS	2917	GRM7	OMIM:618922
HP:0012705	Abnormal metabolic brain imaging by MRS	1267	CNP	OMIM:619071
HP:0012705	Abnormal metabolic brain imaging by MRS	128240	NAXE	OMIM:617186
HP:0012705	Abnormal metabolic brain imaging by MRS	200205	IBA57	OMIM:615330
HP:0012705	Abnormal metabolic brain imaging by MRS	3735	KARS1	OMIM:619196
HP:0012705	Abnormal metabolic brain imaging by MRS	4558	MT-TF	ORPHA:550
HP:0012705	Abnormal metabolic brain imaging by MRS	4572	MT-TQ	ORPHA:550
HP:0012705	Abnormal metabolic brain imaging by MRS	4512	MT-CO1	ORPHA:550
HP:0012705	Abnormal metabolic brain imaging by MRS	4513	MT-CO2	ORPHA:550
HP:0012705	Abnormal metabolic brain imaging by MRS	4514	MT-CO3	ORPHA:550
HP:0012705	Abnormal metabolic brain imaging by MRS	4578	MT-TW	ORPHA:550
HP:0012705	Abnormal metabolic brain imaging by MRS	4540	MT-ND5	ORPHA:550
HP:0012705	Abnormal metabolic brain imaging by MRS	4541	MT-ND6	ORPHA:550
HP:0012705	Abnormal metabolic brain imaging by MRS	4535	MT-ND1	ORPHA:550
HP:0012705	Abnormal metabolic brain imaging by MRS	4538	MT-ND4	ORPHA:550
HP:0012705	Abnormal metabolic brain imaging by MRS	4567	MT-TL1	ORPHA:550
HP:0012705	Abnormal metabolic brain imaging by MRS	4574	MT-TS1	ORPHA:550
HP:0012705	Abnormal metabolic brain imaging by MRS	4575	MT-TS2	ORPHA:550
HP:0012705	Abnormal metabolic brain imaging by MRS	4564	MT-TH	ORPHA:550
HP:0012705	Abnormal metabolic brain imaging by MRS	10059	DNM1L	ORPHA:330050
HP:0012705	Abnormal metabolic brain imaging by MRS	51241	COX16	OMIM:619355
HP:0012705	Abnormal metabolic brain imaging by MRS	91574	MTRFR	ORPHA:254930
HP:0012705	Abnormal metabolic brain imaging by MRS	91574	MTRFR	OMIM:613559
HP:0012705	Abnormal metabolic brain imaging by MRS	26235	FBXL4	OMIM:615471
HP:0012705	Abnormal metabolic brain imaging by MRS	51102	MECR	ORPHA:508093
HP:0012705	Abnormal metabolic brain imaging by MRS	57128	LYRM4	OMIM:615595
HP:0012705	Abnormal metabolic brain imaging by MRS	27247	NFU1	OMIM:620938
HP:0012705	Abnormal metabolic brain imaging by MRS	1593	CYP27A1	ORPHA:909
HP:0012705	Abnormal metabolic brain imaging by MRS	64116	SLC39A8	OMIM:616721
HP:0012705	Abnormal metabolic brain imaging by MRS	4358	MPV17	OMIM:256810
HP:0012705	Abnormal metabolic brain imaging by MRS	54148	MRPL39	OMIM:620646
HP:0012705	Abnormal metabolic brain imaging by MRS	90624	LYRM7	OMIM:615838
HP:0012705	Abnormal metabolic brain imaging by MRS	10667	FARS2	OMIM:614946
HP:0012705	Abnormal metabolic brain imaging by MRS	57176	VARS2	OMIM:615917
HP:0012705	Abnormal metabolic brain imaging by MRS	8802	SUCLG1	OMIM:245400
HP:0012705	Abnormal metabolic brain imaging by MRS	6390	SDHB	OMIM:619224
HP:0012705	Abnormal metabolic brain imaging by MRS	84842	HPDL	OMIM:619026
HP:0012705	Abnormal metabolic brain imaging by MRS	5442	POLRMT	OMIM:619743
HP:0012705	Abnormal metabolic brain imaging by MRS	65993	MRPS34	OMIM:617664
HP:0012705	Abnormal metabolic brain imaging by MRS	1892	ECHS1	OMIM:616277
HP:0012705	Abnormal metabolic brain imaging by MRS	51117	COQ4	OMIM:616276
HP:0012705	Abnormal metabolic brain imaging by MRS	58472	SQOR	OMIM:619221
HP:0012705	Abnormal metabolic brain imaging by MRS	84340	GFM2	OMIM:618397
HP:0012705	Abnormal metabolic brain imaging by MRS	387787	LIPT2	OMIM:617668
HP:0012705	Abnormal metabolic brain imaging by MRS	27429	HTRA2	OMIM:617248
HP:0012705	Abnormal metabolic brain imaging by MRS	137682	NDUFAF6	OMIM:618239
HP:0012705	Abnormal metabolic brain imaging by MRS	4713	NDUFB7	OMIM:620135
HP:0012705	Abnormal metabolic brain imaging by MRS	9900	SV2A	OMIM:620772
HP:0012705	Abnormal metabolic brain imaging by MRS	79736	TEFM	OMIM:620451
HP:0012705	Abnormal metabolic brain imaging by MRS	1353	COX11	OMIM:620275
HP:0012705	Abnormal metabolic brain imaging by MRS	3028	HSD17B10	ORPHA:391428
HP:0012705	Abnormal metabolic brain imaging by MRS	55210	ATAD3A	OMIM:617183
HP:0012705	Abnormal metabolic brain imaging by MRS	339983	NAT8L	OMIM:614063
HP:0012705	Abnormal metabolic brain imaging by MRS	8913	CACNA1G	ORPHA:458803
HP:0012705	Abnormal metabolic brain imaging by MRS	644096	SDHAF1	OMIM:619166
HP:0012705	Abnormal metabolic brain imaging by MRS	6392	SDHD	OMIM:619167
HP:0012705	Abnormal metabolic brain imaging by MRS	23219	FBXO28	OMIM:619777
HP:0012705	Abnormal metabolic brain imaging by MRS	93627	TBCK	OMIM:616900
HP:0012705	Abnormal metabolic brain imaging by MRS	8604	SLC25A12	OMIM:612949
HP:0012705	Abnormal metabolic brain imaging by MRS	84342	COG8	OMIM:611182
HP:0012705	Abnormal metabolic brain imaging by MRS	6535	SLC6A8	OMIM:300352
HP:0012705	Abnormal metabolic brain imaging by MRS	2628	GATM	OMIM:612718
HP:0012705	Abnormal metabolic brain imaging by MRS	7355	SLC35A2	ORPHA:356961
HP:0012705	Abnormal metabolic brain imaging by MRS	443	ASPA	OMIM:271900
HP:0012705	Abnormal metabolic brain imaging by MRS	443	ASPA	ORPHA:314911
HP:0012705	Abnormal metabolic brain imaging by MRS	54914	FOCAD	OMIM:619991
HP:0012705	Abnormal metabolic brain imaging by MRS	55768	NGLY1	OMIM:615273
HP:0012705	Abnormal metabolic brain imaging by MRS	11128	POLR3A	ORPHA:447896
HP:0012705	Abnormal metabolic brain imaging by MRS	2581	GALC	ORPHA:206436
HP:0012705	Abnormal metabolic brain imaging by MRS	5660	PSAP	ORPHA:206436
HP:0012705	Abnormal metabolic brain imaging by MRS	2653	GCSH	OMIM:620423
HP:0012705	Abnormal metabolic brain imaging by MRS	22934	RPIA	OMIM:608611
HP:0012705	Abnormal metabolic brain imaging by MRS	2222	FDFT1	OMIM:618156
HP:0012705	Abnormal metabolic brain imaging by MRS	2593	GAMT	OMIM:612736
HP:0012706	Elevated brain choline level by MRS	1593	CYP27A1	ORPHA:909
HP:0012706	Elevated brain choline level by MRS	137682	NDUFAF6	OMIM:618239
HP:0012706	Elevated brain choline level by MRS	2917	GRM7	OMIM:618922
HP:0012706	Elevated brain choline level by MRS	1267	CNP	OMIM:619071
HP:0012706	Elevated brain choline level by MRS	55768	NGLY1	OMIM:615273
HP:0012706	Elevated brain choline level by MRS	2581	GALC	ORPHA:206436
HP:0012706	Elevated brain choline level by MRS	5660	PSAP	ORPHA:206436
HP:0012706	Elevated brain choline level by MRS	128240	NAXE	OMIM:617186
HP:0012706	Elevated brain choline level by MRS	200205	IBA57	OMIM:615330
HP:0012706	Elevated brain choline level by MRS	27247	NFU1	OMIM:620938
HP:0012707	Elevated brain lactate level by MRS	3735	KARS1	OMIM:619196
HP:0012707	Elevated brain lactate level by MRS	4558	MT-TF	ORPHA:550
HP:0012707	Elevated brain lactate level by MRS	4572	MT-TQ	ORPHA:550
HP:0012707	Elevated brain lactate level by MRS	4512	MT-CO1	ORPHA:550
HP:0012707	Elevated brain lactate level by MRS	4513	MT-CO2	ORPHA:550
HP:0012707	Elevated brain lactate level by MRS	4514	MT-CO3	ORPHA:550
HP:0012707	Elevated brain lactate level by MRS	4578	MT-TW	ORPHA:550
HP:0012707	Elevated brain lactate level by MRS	4540	MT-ND5	ORPHA:550
HP:0012707	Elevated brain lactate level by MRS	4541	MT-ND6	ORPHA:550
HP:0012707	Elevated brain lactate level by MRS	4535	MT-ND1	ORPHA:550
HP:0012707	Elevated brain lactate level by MRS	4538	MT-ND4	ORPHA:550
HP:0012707	Elevated brain lactate level by MRS	4567	MT-TL1	ORPHA:550
HP:0012707	Elevated brain lactate level by MRS	4574	MT-TS1	ORPHA:550
HP:0012707	Elevated brain lactate level by MRS	4575	MT-TS2	ORPHA:550
HP:0012707	Elevated brain lactate level by MRS	4564	MT-TH	ORPHA:550
HP:0012707	Elevated brain lactate level by MRS	10059	DNM1L	ORPHA:330050
HP:0012707	Elevated brain lactate level by MRS	51241	COX16	OMIM:619355
HP:0012707	Elevated brain lactate level by MRS	91574	MTRFR	ORPHA:254930
HP:0012707	Elevated brain lactate level by MRS	91574	MTRFR	OMIM:613559
HP:0012707	Elevated brain lactate level by MRS	26235	FBXL4	OMIM:615471
HP:0012707	Elevated brain lactate level by MRS	51102	MECR	ORPHA:508093
HP:0012707	Elevated brain lactate level by MRS	57128	LYRM4	OMIM:615595
HP:0012707	Elevated brain lactate level by MRS	27247	NFU1	OMIM:620938
HP:0012707	Elevated brain lactate level by MRS	1593	CYP27A1	ORPHA:909
HP:0012707	Elevated brain lactate level by MRS	64116	SLC39A8	OMIM:616721
HP:0012707	Elevated brain lactate level by MRS	4358	MPV17	OMIM:256810
HP:0012707	Elevated brain lactate level by MRS	54148	MRPL39	OMIM:620646
HP:0012707	Elevated brain lactate level by MRS	2653	GCSH	OMIM:620423
HP:0012707	Elevated brain lactate level by MRS	90624	LYRM7	OMIM:615838
HP:0012707	Elevated brain lactate level by MRS	10667	FARS2	OMIM:614946
HP:0012707	Elevated brain lactate level by MRS	57176	VARS2	OMIM:615917
HP:0012707	Elevated brain lactate level by MRS	8802	SUCLG1	OMIM:245400
HP:0012707	Elevated brain lactate level by MRS	6390	SDHB	OMIM:619224
HP:0012707	Elevated brain lactate level by MRS	84842	HPDL	OMIM:619026
HP:0012707	Elevated brain lactate level by MRS	5442	POLRMT	OMIM:619743
HP:0012707	Elevated brain lactate level by MRS	65993	MRPS34	OMIM:617664
HP:0012707	Elevated brain lactate level by MRS	1892	ECHS1	OMIM:616277
HP:0012707	Elevated brain lactate level by MRS	51117	COQ4	OMIM:616276
HP:0012707	Elevated brain lactate level by MRS	58472	SQOR	OMIM:619221
HP:0012707	Elevated brain lactate level by MRS	84340	GFM2	OMIM:618397
HP:0012707	Elevated brain lactate level by MRS	387787	LIPT2	OMIM:617668
HP:0012707	Elevated brain lactate level by MRS	27429	HTRA2	OMIM:617248
HP:0012707	Elevated brain lactate level by MRS	137682	NDUFAF6	OMIM:618239
HP:0012707	Elevated brain lactate level by MRS	4713	NDUFB7	OMIM:620135
HP:0012707	Elevated brain lactate level by MRS	9900	SV2A	OMIM:620772
HP:0012707	Elevated brain lactate level by MRS	79736	TEFM	OMIM:620451
HP:0012707	Elevated brain lactate level by MRS	1353	COX11	OMIM:620275
HP:0012707	Elevated brain lactate level by MRS	3028	HSD17B10	ORPHA:391428
HP:0012708	Reduced brain N-acetyl aspartate level by MRS	55210	ATAD3A	OMIM:617183
HP:0012708	Reduced brain N-acetyl aspartate level by MRS	1267	CNP	OMIM:619071
HP:0012708	Reduced brain N-acetyl aspartate level by MRS	55768	NGLY1	OMIM:615273
HP:0012708	Reduced brain N-acetyl aspartate level by MRS	339983	NAT8L	OMIM:614063
HP:0012708	Reduced brain N-acetyl aspartate level by MRS	8913	CACNA1G	ORPHA:458803
HP:0012708	Reduced brain N-acetyl aspartate level by MRS	644096	SDHAF1	OMIM:619166
HP:0012708	Reduced brain N-acetyl aspartate level by MRS	6392	SDHD	OMIM:619167
HP:0012708	Reduced brain N-acetyl aspartate level by MRS	84340	GFM2	OMIM:618397
HP:0012708	Reduced brain N-acetyl aspartate level by MRS	27247	NFU1	OMIM:620938
HP:0012708	Reduced brain N-acetyl aspartate level by MRS	23219	FBXO28	OMIM:619777
HP:0012708	Reduced brain N-acetyl aspartate level by MRS	93627	TBCK	OMIM:616900
HP:0012708	Reduced brain N-acetyl aspartate level by MRS	2653	GCSH	OMIM:620423
HP:0012708	Reduced brain N-acetyl aspartate level by MRS	2917	GRM7	OMIM:618922
HP:0012708	Reduced brain N-acetyl aspartate level by MRS	4713	NDUFB7	OMIM:620135
HP:0012708	Reduced brain N-acetyl aspartate level by MRS	2581	GALC	ORPHA:206436
HP:0012708	Reduced brain N-acetyl aspartate level by MRS	5660	PSAP	ORPHA:206436
HP:0012708	Reduced brain N-acetyl aspartate level by MRS	9900	SV2A	OMIM:620772
HP:0012708	Reduced brain N-acetyl aspartate level by MRS	8604	SLC25A12	OMIM:612949
HP:0007407	Excessive skin wrinkling on dorsum of hands and fingers	23545	ATP6V0A2	ORPHA:2834
HP:0007407	Excessive skin wrinkling on dorsum of hands and fingers	1080	CFTR	ORPHA:498359
HP:0007408	Tegumentary leishmaniasis susceptibility	3594	IL12RB1	ORPHA:319552
HP:0003758	Reduced subcutaneous adipose tissue	6497	SKI	OMIM:182212
HP:0003758	Reduced subcutaneous adipose tissue	8260	NAA10	OMIM:300855
HP:0003758	Reduced subcutaneous adipose tissue	54345	SOX18	OMIM:137940
HP:0003758	Reduced subcutaneous adipose tissue	2271	FH	OMIM:606812
HP:0003758	Reduced subcutaneous adipose tissue	2074	ERCC6	OMIM:133540
HP:0003758	Reduced subcutaneous adipose tissue	4000	LMNA	ORPHA:280365
HP:0003758	Reduced subcutaneous adipose tissue	4000	LMNA	OMIM:151660
HP:0003758	Reduced subcutaneous adipose tissue	4000	LMNA	OMIM:248370
HP:0003758	Reduced subcutaneous adipose tissue	5295	PIK3R1	OMIM:269880
HP:0003758	Reduced subcutaneous adipose tissue	8367	H4C5	OMIM:619950
HP:0003758	Reduced subcutaneous adipose tissue	2200	FBN1	OMIM:154700
HP:0003758	Reduced subcutaneous adipose tissue	2200	FBN1	OMIM:616914
HP:0003758	Reduced subcutaneous adipose tissue	26580	BSCL2	OMIM:269700
HP:0003758	Reduced subcutaneous adipose tissue	26580	BSCL2	ORPHA:363400
HP:0003758	Reduced subcutaneous adipose tissue	7040	TGFB1	OMIM:131300
HP:0003758	Reduced subcutaneous adipose tissue	29957	SLC25A24	OMIM:612289
HP:0003758	Reduced subcutaneous adipose tissue	29957	SLC25A24	ORPHA:2963
HP:0003758	Reduced subcutaneous adipose tissue	3643	INSR	ORPHA:508
HP:0003758	Reduced subcutaneous adipose tissue	3643	INSR	ORPHA:769
HP:0003758	Reduced subcutaneous adipose tissue	857	CAV1	OMIM:612526
HP:0003758	Reduced subcutaneous adipose tissue	857	CAV1	OMIM:606721
HP:0003758	Reduced subcutaneous adipose tissue	11128	POLR3A	OMIM:264090
HP:0003758	Reduced subcutaneous adipose tissue	11128	POLR3A	ORPHA:3455
HP:0003758	Reduced subcutaneous adipose tissue	256297	PTF1A	OMIM:609069
HP:0003758	Reduced subcutaneous adipose tissue	10555	AGPAT2	OMIM:608594
HP:0003758	Reduced subcutaneous adipose tissue	5346	PLIN1	ORPHA:280356
HP:0003758	Reduced subcutaneous adipose tissue	5468	PPARG	OMIM:604367
HP:0003758	Reduced subcutaneous adipose tissue	221496	LEMD2	OMIM:619322
HP:0003758	Reduced subcutaneous adipose tissue	6514	SLC2A2	OMIM:227810
HP:0003758	Reduced subcutaneous adipose tissue	51305	KCNK9	OMIM:612292
HP:0003758	Reduced subcutaneous adipose tissue	1594	CYP27B1	OMIM:264700
HP:0003758	Reduced subcutaneous adipose tissue	7156	TOP3A	OMIM:618097
HP:0003758	Reduced subcutaneous adipose tissue	7043	TGFB3	OMIM:615582
HP:0003758	Reduced subcutaneous adipose tissue	523	ATP6V1A	OMIM:617403
HP:0003758	Reduced subcutaneous adipose tissue	529	ATP6V1E1	OMIM:617402
HP:0003758	Reduced subcutaneous adipose tissue	55131	RBM28	OMIM:612079
HP:0003758	Reduced subcutaneous adipose tissue	2783	GNB2	OMIM:619503
HP:0003758	Reduced subcutaneous adipose tissue	3480	IGF1R	OMIM:270450
HP:0003758	Reduced subcutaneous adipose tissue	1161	ERCC8	OMIM:216400
HP:0003758	Reduced subcutaneous adipose tissue	3763	KCNJ6	OMIM:614098
HP:0003758	Reduced subcutaneous adipose tissue	10269	ZMPSTE24	OMIM:608612
HP:0007400	Irregular hyperpigmentation	3479	IGF1	ORPHA:73272
HP:0007400	Irregular hyperpigmentation	8036	SHOC2	OMIM:607721
HP:0007400	Irregular hyperpigmentation	8367	H4C5	OMIM:619950
HP:0007400	Irregular hyperpigmentation	4683	NBN	OMIM:251260
HP:0007400	Irregular hyperpigmentation	55240	STEAP3	OMIM:615234
HP:0007400	Irregular hyperpigmentation	55240	STEAP3	ORPHA:300298
HP:0007400	Irregular hyperpigmentation	55654	TMEM127	OMIM:171300
HP:0007400	Irregular hyperpigmentation	4149	MAX	OMIM:171300
HP:0007400	Irregular hyperpigmentation	5979	RET	OMIM:171300
HP:0007400	Irregular hyperpigmentation	7428	VHL	OMIM:171300
HP:0007400	Irregular hyperpigmentation	161742	SPRED1	OMIM:611431
HP:0007400	Irregular hyperpigmentation	5894	RAF1	OMIM:611554
HP:0007400	Irregular hyperpigmentation	5894	RAF1	OMIM:611553
HP:0007400	Irregular hyperpigmentation	3659	IRF1	OMIM:620668
HP:0007400	Irregular hyperpigmentation	324	APC	ORPHA:99818
HP:0007400	Irregular hyperpigmentation	64682	ANAPC1	OMIM:618625
HP:0007400	Irregular hyperpigmentation	4076	CAPRIN1	OMIM:620782
HP:0007400	Irregular hyperpigmentation	10060	ABCC9	OMIM:619719
HP:0007400	Irregular hyperpigmentation	6548	SLC9A1	OMIM:616291
HP:0007400	Irregular hyperpigmentation	197131	UBR1	OMIM:243800
HP:0007400	Irregular hyperpigmentation	220296	HEPACAM	ORPHA:210548
HP:0007400	Irregular hyperpigmentation	472	ATM	OMIM:208900
HP:0007400	Irregular hyperpigmentation	284058	KANSL1	ORPHA:363958
HP:0007400	Irregular hyperpigmentation	284058	KANSL1	ORPHA:363965
HP:0007400	Irregular hyperpigmentation	54543	TOMM7	OMIM:620601
HP:0007400	Irregular hyperpigmentation	3481	IGF2	OMIM:180860
HP:0007400	Irregular hyperpigmentation	3481	IGF2	ORPHA:397590
HP:0007400	Irregular hyperpigmentation	7156	TOP3A	OMIM:618097
HP:0007400	Irregular hyperpigmentation	2475	MTOR	ORPHA:457485
HP:0007400	Irregular hyperpigmentation	2475	MTOR	OMIM:616638
HP:0007400	Irregular hyperpigmentation	6663	SOX10	OMIM:611584
HP:0007400	Irregular hyperpigmentation	51729	WBP11	OMIM:619227
HP:0007400	Irregular hyperpigmentation	5116	PCNT	OMIM:210720
HP:0007400	Irregular hyperpigmentation	6874	TAF4	OMIM:620450
HP:0007400	Irregular hyperpigmentation	4771	NF2	OMIM:101000
HP:0007400	Irregular hyperpigmentation	699	BUB1	OMIM:620183
HP:0007400	Irregular hyperpigmentation	1186	CLCN7	OMIM:618541
HP:0007400	Irregular hyperpigmentation	57680	CHD8	OMIM:615032
HP:0007400	Irregular hyperpigmentation	2033	EP300	OMIM:180849
HP:0007400	Irregular hyperpigmentation	1387	CREBBP	OMIM:180849
HP:0007400	Irregular hyperpigmentation	3458	IFNG	OMIM:613254
HP:0007400	Irregular hyperpigmentation	7249	TSC2	OMIM:613254
HP:0007400	Irregular hyperpigmentation	10283	CWC27	OMIM:250410
HP:0007400	Irregular hyperpigmentation	10283	CWC27	ORPHA:166035
HP:0007400	Irregular hyperpigmentation	8936	WASF1	OMIM:618707
HP:0007400	Irregular hyperpigmentation	5605	MAP2K2	OMIM:615280
HP:0007400	Irregular hyperpigmentation	285590	SH3PXD2B	OMIM:249420
HP:0007400	Irregular hyperpigmentation	5594	MAPK1	OMIM:619087
HP:0007400	Irregular hyperpigmentation	9702	CEP57	OMIM:614114
HP:0007400	Irregular hyperpigmentation	1028	CDKN1C	ORPHA:397590
HP:0007400	Irregular hyperpigmentation	5324	PLAG1	ORPHA:397590
HP:0007400	Irregular hyperpigmentation	8091	HMGA2	ORPHA:397590
HP:0007400	Irregular hyperpigmentation	641	BLM	OMIM:210900
HP:0007400	Irregular hyperpigmentation	641	BLM	ORPHA:125
HP:0007400	Irregular hyperpigmentation	5500	PPP1CB	OMIM:617506
HP:0007400	Irregular hyperpigmentation	7248	TSC1	OMIM:191100
HP:0007400	Irregular hyperpigmentation	9968	MED12	OMIM:300895
HP:0007400	Irregular hyperpigmentation	4221	MEN1	OMIM:131100
HP:0007400	Irregular hyperpigmentation	9652	SKIC3	OMIM:222470
HP:0007400	Irregular hyperpigmentation	9652	SKIC3	ORPHA:84064
HP:0007400	Irregular hyperpigmentation	55023	PHIP	OMIM:617991
HP:0007400	Irregular hyperpigmentation	55023	PHIP	ORPHA:589905
HP:0007400	Irregular hyperpigmentation	1315	COPB1	OMIM:619255
HP:0007400	Irregular hyperpigmentation	157570	ESCO2	OMIM:268300
HP:0007400	Irregular hyperpigmentation	6595	SMARCA2	OMIM:601358
HP:0007400	Irregular hyperpigmentation	5781	PTPN11	OMIM:151100
HP:0007400	Irregular hyperpigmentation	5781	PTPN11	OMIM:163950
HP:0007400	Irregular hyperpigmentation	867	CBL	OMIM:613563
HP:0007400	Irregular hyperpigmentation	6499	SKIC2	ORPHA:84064
HP:0007400	Irregular hyperpigmentation	22907	DHX30	OMIM:617804
HP:0007400	Irregular hyperpigmentation	5426	POLE	OMIM:618336
HP:0007400	Irregular hyperpigmentation	9898	UBAP2L	OMIM:620494
HP:0007400	Irregular hyperpigmentation	673	BRAF	OMIM:163950
HP:0007400	Irregular hyperpigmentation	5604	MAP2K1	OMIM:163950
HP:0007400	Irregular hyperpigmentation	8085	KMT2D	OMIM:147920
HP:0007400	Irregular hyperpigmentation	7403	KDM6A	OMIM:147920
HP:0007400	Irregular hyperpigmentation	25778	DSTYK	ORPHA:101003
HP:0007400	Irregular hyperpigmentation	25778	DSTYK	OMIM:270750
HP:0007400	Irregular hyperpigmentation	23141	ANKLE2	OMIM:616681
HP:0007400	Irregular hyperpigmentation	112858	TP53RK	OMIM:617730
HP:0007400	Irregular hyperpigmentation	23135	KDM6B	OMIM:618505
HP:0007400	Irregular hyperpigmentation	5290	PIK3CA	ORPHA:60040
HP:0007400	Irregular hyperpigmentation	60	ACTB	ORPHA:64755
HP:0007400	Irregular hyperpigmentation	2186	BPTF	OMIM:148000
HP:0007400	Irregular hyperpigmentation	3569	IL6	OMIM:148000
HP:0007400	Irregular hyperpigmentation	4254	KITLG	OMIM:145250
HP:0007400	Irregular hyperpigmentation	4254	KITLG	OMIM:619947
HP:0007400	Irregular hyperpigmentation	2261	FGFR3	ORPHA:53271
HP:0007400	Irregular hyperpigmentation	56983	POGLUT1	ORPHA:79145
HP:0007400	Irregular hyperpigmentation	3852	KRT5	ORPHA:79145
HP:0007400	Irregular hyperpigmentation	3852	KRT5	ORPHA:79397
HP:0007400	Irregular hyperpigmentation	3852	KRT5	ORPHA:79399
HP:0007400	Irregular hyperpigmentation	23509	POFUT1	ORPHA:79145
HP:0007400	Irregular hyperpigmentation	55851	PSENEN	ORPHA:79145
HP:0007400	Irregular hyperpigmentation	56916	SMARCAD1	OMIM:129200
HP:0007400	Irregular hyperpigmentation	7507	XPA	OMIM:278700
HP:0007400	Irregular hyperpigmentation	7507	XPA	ORPHA:910
HP:0007400	Irregular hyperpigmentation	1161	ERCC8	ORPHA:90321
HP:0007400	Irregular hyperpigmentation	1161	ERCC8	ORPHA:90322
HP:0007400	Irregular hyperpigmentation	2074	ERCC6	ORPHA:90321
HP:0007400	Irregular hyperpigmentation	2074	ERCC6	ORPHA:90322
HP:0007400	Irregular hyperpigmentation	2074	ERCC6	OMIM:278800
HP:0007400	Irregular hyperpigmentation	2067	ERCC1	ORPHA:90322
HP:0007400	Irregular hyperpigmentation	4000	LMNA	ORPHA:740
HP:0007400	Irregular hyperpigmentation	10269	ZMPSTE24	ORPHA:740
HP:0007400	Irregular hyperpigmentation	50485	SMARCAL1	ORPHA:1830
HP:0007400	Irregular hyperpigmentation	50485	SMARCAL1	OMIM:242900
HP:0007400	Irregular hyperpigmentation	10058	ABCB6	OMIM:615402
HP:0007400	Irregular hyperpigmentation	10058	ABCB6	ORPHA:241
HP:0007400	Irregular hyperpigmentation	488	ATP2A2	ORPHA:218
HP:0007400	Irregular hyperpigmentation	488	ATP2A2	OMIM:124200
HP:0007400	Irregular hyperpigmentation	7132	TNFRSF1A	ORPHA:32960
HP:0007400	Irregular hyperpigmentation	2778	GNAS	ORPHA:2762
HP:0007400	Irregular hyperpigmentation	1536	CYBB	ORPHA:379
HP:0007400	Irregular hyperpigmentation	4688	NCF2	ORPHA:379
HP:0007400	Irregular hyperpigmentation	1535	CYBA	ORPHA:379
HP:0007400	Irregular hyperpigmentation	4689	NCF4	ORPHA:379
HP:0007400	Irregular hyperpigmentation	653361	NCF1	ORPHA:379
HP:0007400	Irregular hyperpigmentation	79415	CYBC1	ORPHA:379
HP:0007400	Irregular hyperpigmentation	8869	ST3GAL5	OMIM:609056
HP:0007400	Irregular hyperpigmentation	54	ACP5	OMIM:607944
HP:0007400	Irregular hyperpigmentation	716	C1S	ORPHA:75392
HP:0007400	Irregular hyperpigmentation	715	C1R	ORPHA:75392
HP:0007400	Irregular hyperpigmentation	3643	INSR	OMIM:246200
HP:0007400	Irregular hyperpigmentation	1663	DDX11	OMIM:613398
HP:0007400	Irregular hyperpigmentation	6794	STK11	OMIM:175200
HP:0007400	Irregular hyperpigmentation	5339	PLEC	ORPHA:79401
HP:0007400	Irregular hyperpigmentation	4313	MMP2	OMIM:259600
HP:0007400	Irregular hyperpigmentation	23328	SASH1	OMIM:618373
HP:0007400	Irregular hyperpigmentation	80169	CTC1	ORPHA:1775
HP:0007400	Irregular hyperpigmentation	26277	TINF2	ORPHA:1775
HP:0007400	Irregular hyperpigmentation	55651	NHP2	ORPHA:1775
HP:0007400	Irregular hyperpigmentation	79650	USB1	ORPHA:1775
HP:0007400	Irregular hyperpigmentation	55135	WRAP53	ORPHA:1775
HP:0007400	Irregular hyperpigmentation	51750	RTEL1	ORPHA:1775
HP:0007400	Irregular hyperpigmentation	4869	NPM1	ORPHA:1775
HP:0007400	Irregular hyperpigmentation	7012	TERC	ORPHA:1775
HP:0007400	Irregular hyperpigmentation	55505	NOP10	ORPHA:1775
HP:0007400	Irregular hyperpigmentation	5073	PARN	ORPHA:1775
HP:0007400	Irregular hyperpigmentation	7015	TERT	ORPHA:1775
HP:0007400	Irregular hyperpigmentation	1736	DKC1	ORPHA:1775
HP:0007400	Irregular hyperpigmentation	7298	TYMS	ORPHA:1775
HP:0007400	Irregular hyperpigmentation	10457	GPNMB	OMIM:617920
HP:0007400	Irregular hyperpigmentation	8216	LZTR1	OMIM:605275
HP:0007400	Irregular hyperpigmentation	3861	KRT14	ORPHA:79397
HP:0007400	Irregular hyperpigmentation	3861	KRT14	ORPHA:79399
HP:0007400	Irregular hyperpigmentation	4763	NF1	ORPHA:97685
HP:0007400	Irregular hyperpigmentation	2068	ERCC2	ORPHA:910
HP:0007400	Irregular hyperpigmentation	2071	ERCC3	ORPHA:910
HP:0007400	Irregular hyperpigmentation	7508	XPC	ORPHA:910
HP:0007400	Irregular hyperpigmentation	1643	DDB2	ORPHA:910
HP:0007400	Irregular hyperpigmentation	2073	ERCC5	ORPHA:910
HP:0007400	Irregular hyperpigmentation	10484	SEC23A	OMIM:607812
HP:0007400	Irregular hyperpigmentation	1130	LYST	ORPHA:167
HP:0007400	Irregular hyperpigmentation	79644	SRD5A3	ORPHA:324737
HP:0007400	Irregular hyperpigmentation	8815	BANF1	OMIM:614008
HP:0007400	Irregular hyperpigmentation	55612	FERMT1	OMIM:173650
HP:0007400	Irregular hyperpigmentation	9419	CRIPT	OMIM:615789
HP:0007400	Irregular hyperpigmentation	5573	PRKAR1A	ORPHA:1359
HP:0007400	Irregular hyperpigmentation	50940	PDE11A	ORPHA:1359
HP:0007400	Irregular hyperpigmentation	1027	CDKN1B	ORPHA:652
HP:0007400	Irregular hyperpigmentation	1026	CDKN1A	ORPHA:652
HP:0007400	Irregular hyperpigmentation	1030	CDKN2B	ORPHA:652
HP:0007400	Irregular hyperpigmentation	1031	CDKN2C	ORPHA:652
HP:0007400	Irregular hyperpigmentation	57167	SALL4	ORPHA:233
HP:0007400	Irregular hyperpigmentation	9935	MAFB	ORPHA:233
HP:0007400	Irregular hyperpigmentation	1123	CHN1	ORPHA:233
HP:0007400	Irregular hyperpigmentation	1493	CTLA4	ORPHA:3162
HP:0007400	Irregular hyperpigmentation	1493	CTLA4	ORPHA:2584
HP:0007400	Irregular hyperpigmentation	940	CD28	ORPHA:3162
HP:0007400	Irregular hyperpigmentation	940	CD28	ORPHA:2584
HP:0007400	Irregular hyperpigmentation	7133	TNFRSF1B	ORPHA:3162
HP:0007400	Irregular hyperpigmentation	7133	TNFRSF1B	ORPHA:2584
HP:0007400	Irregular hyperpigmentation	4854	NOTCH3	ORPHA:2591
HP:0007400	Irregular hyperpigmentation	5159	PDGFRB	ORPHA:2591
HP:0007400	Irregular hyperpigmentation	6389	SDHA	ORPHA:44890
HP:0007400	Irregular hyperpigmentation	6390	SDHB	ORPHA:44890
HP:0007400	Irregular hyperpigmentation	6391	SDHC	ORPHA:44890
HP:0007400	Irregular hyperpigmentation	5156	PDGFRA	ORPHA:44890
HP:0007400	Irregular hyperpigmentation	3815	KIT	ORPHA:44890
HP:0007400	Irregular hyperpigmentation	3265	HRAS	ORPHA:2612
HP:0007400	Irregular hyperpigmentation	3845	KRAS	ORPHA:2612
HP:0007400	Irregular hyperpigmentation	4893	NRAS	ORPHA:2612
HP:0007400	Irregular hyperpigmentation	340024	SLC6A19	ORPHA:2116
HP:0007400	Irregular hyperpigmentation	57393	CLTRN	ORPHA:2116
HP:0007400	Irregular hyperpigmentation	5728	PTEN	ORPHA:109
HP:0007400	Irregular hyperpigmentation	5728	PTEN	ORPHA:2969
HP:0007400	Irregular hyperpigmentation	2767	GNA11	ORPHA:428
HP:0007400	Irregular hyperpigmentation	846	CASR	ORPHA:428
HP:0007400	Irregular hyperpigmentation	672	BRCA1	ORPHA:84
HP:0007400	Irregular hyperpigmentation	10459	MAD2L2	ORPHA:84
HP:0007400	Irregular hyperpigmentation	7516	XRCC2	ORPHA:84
HP:0007400	Irregular hyperpigmentation	29089	UBE2T	ORPHA:84
HP:0007400	Irregular hyperpigmentation	675	BRCA2	ORPHA:84
HP:0007400	Irregular hyperpigmentation	55120	FANCL	ORPHA:84
HP:0007400	Irregular hyperpigmentation	2177	FANCD2	ORPHA:84
HP:0007400	Irregular hyperpigmentation	2175	FANCA	ORPHA:84
HP:0007400	Irregular hyperpigmentation	2187	FANCB	ORPHA:84
HP:0007400	Irregular hyperpigmentation	2176	FANCC	ORPHA:84
HP:0007400	Irregular hyperpigmentation	2178	FANCE	ORPHA:84
HP:0007400	Irregular hyperpigmentation	2188	FANCF	ORPHA:84
HP:0007400	Irregular hyperpigmentation	2189	FANCG	ORPHA:84
HP:0007400	Irregular hyperpigmentation	5888	RAD51	ORPHA:84
HP:0007400	Irregular hyperpigmentation	5889	RAD51C	ORPHA:84
HP:0007400	Irregular hyperpigmentation	55159	RFWD3	ORPHA:84
HP:0007400	Irregular hyperpigmentation	83990	BRIP1	ORPHA:84
HP:0007400	Irregular hyperpigmentation	57697	FANCM	ORPHA:84
HP:0007400	Irregular hyperpigmentation	79728	PALB2	ORPHA:84
HP:0007400	Irregular hyperpigmentation	84464	SLX4	ORPHA:84
HP:0007400	Irregular hyperpigmentation	2072	ERCC4	ORPHA:84
HP:0007400	Irregular hyperpigmentation	55215	FANCI	ORPHA:84
HP:0007400	Irregular hyperpigmentation	1776	DNASE1L3	ORPHA:36412
HP:0007400	Irregular hyperpigmentation	2776	GNAQ	ORPHA:624
HP:0007400	Irregular hyperpigmentation	55719	SLF2	OMIM:620184
HP:0007400	Irregular hyperpigmentation	79092	CARD14	ORPHA:2897
HP:0007400	Irregular hyperpigmentation	207	AKT1	ORPHA:744
HP:0007400	Irregular hyperpigmentation	3081	HGD	ORPHA:56
HP:0007400	Irregular hyperpigmentation	8517	IKBKG	ORPHA:464
HP:0007400	Irregular hyperpigmentation	1294	COL7A1	ORPHA:89842
HP:0007400	Irregular hyperpigmentation	203068	TUBB	ORPHA:2505
HP:0007400	Irregular hyperpigmentation	10982	MAPRE2	ORPHA:2505
HP:0007400	Irregular hyperpigmentation	2697	GJA1	ORPHA:317
HP:0007400	Irregular hyperpigmentation	2707	GJB3	ORPHA:317
HP:0007400	Irregular hyperpigmentation	2531	KDSR	ORPHA:317
HP:0007400	Irregular hyperpigmentation	127534	GJB4	ORPHA:317
HP:0007400	Irregular hyperpigmentation	3930	LBR	ORPHA:779
HP:0007400	Irregular hyperpigmentation	1281	COL3A1	ORPHA:2500
HP:0007400	Irregular hyperpigmentation	11005	SPINK5	ORPHA:634
HP:0007400	Irregular hyperpigmentation	1308	COL17A1	OMIM:619787
HP:0007400	Irregular hyperpigmentation	2783	GNB2	OMIM:619503
HP:0007400	Irregular hyperpigmentation	6418	SET	OMIM:618106
HP:0007400	Irregular hyperpigmentation	5932	RBBP8	OMIM:606744
HP:0007400	Irregular hyperpigmentation	9319	TRIP13	OMIM:617598
HP:0007400	Irregular hyperpigmentation	64864	RFX7	OMIM:620330
HP:0007400	Irregular hyperpigmentation	2260	FGFR1	OMIM:613001
HP:0007400	Irregular hyperpigmentation	64840	PORCN	OMIM:305600
HP:0007400	Irregular hyperpigmentation	4436	MSH2	OMIM:619096
HP:0007400	Irregular hyperpigmentation	2956	MSH6	OMIM:619097
HP:0007400	Irregular hyperpigmentation	5980	REV3L	ORPHA:570
HP:0007400	Irregular hyperpigmentation	23129	PLXND1	ORPHA:570
HP:0007400	Irregular hyperpigmentation	11253	MAN1B1	ORPHA:397941
HP:0007400	Irregular hyperpigmentation	8242	KDM5C	ORPHA:85279
HP:0007400	Irregular hyperpigmentation	11322	TMC6	ORPHA:302
HP:0007400	Irregular hyperpigmentation	3574	IL7	ORPHA:302
HP:0007400	Irregular hyperpigmentation	147138	TMC8	ORPHA:302
HP:0007400	Irregular hyperpigmentation	10519	CIB1	ORPHA:302
HP:0007400	Irregular hyperpigmentation	4292	MLH1	OMIM:276300
HP:0007400	Irregular hyperpigmentation	10483	SEC23B	ORPHA:201
HP:0007400	Irregular hyperpigmentation	6392	SDHD	ORPHA:201
HP:0007400	Irregular hyperpigmentation	205717	USF3	ORPHA:201
HP:0007400	Irregular hyperpigmentation	100144748	KLLN	ORPHA:201
HP:0007400	Irregular hyperpigmentation	117581	TWIST2	ORPHA:1807
HP:0007400	Irregular hyperpigmentation	8626	TP63	ORPHA:69085
HP:0007400	Irregular hyperpigmentation	9184	BUB3	ORPHA:1052
HP:0007400	Irregular hyperpigmentation	701	BUB1B	ORPHA:1052
HP:0007400	Irregular hyperpigmentation	5395	PMS2	OMIM:619101
HP:0007400	Irregular hyperpigmentation	473	RERE	OMIM:616975
HP:0007400	Irregular hyperpigmentation	151188	ARL6IP6	ORPHA:1556
HP:0007400	Irregular hyperpigmentation	54539	NDUFB11	OMIM:300952
HP:0007400	Irregular hyperpigmentation	4358	MPV17	OMIM:256810
HP:0007400	Irregular hyperpigmentation	6117	RPA1	OMIM:619767
HP:0007400	Irregular hyperpigmentation	5422	POLA1	OMIM:301220
HP:0007400	Irregular hyperpigmentation	7157	TP53	OMIM:618165
HP:0007400	Irregular hyperpigmentation	374969	SVBP	OMIM:618569
HP:0007400	Irregular hyperpigmentation	215	ABCD1	ORPHA:139399
HP:0007401	Macular atrophy	2202	EFEMP1	ORPHA:75376
HP:0007401	Macular atrophy	3075	CFH	ORPHA:75376
HP:0007401	Macular atrophy	3426	CFI	ORPHA:75376
HP:0007401	Macular atrophy	26121	PRPF31	OMIM:600138
HP:0007401	Macular atrophy	84839	RAX2	OMIM:610381
HP:0007401	Macular atrophy	9785	DHX38	OMIM:618220
HP:0007401	Macular atrophy	23568	ARL2BP	OMIM:615434
HP:0007401	Macular atrophy	157657	CFAP418	OMIM:614500
HP:0007401	Macular atrophy	54585	LZTFL1	OMIM:615994
HP:0007401	Macular atrophy	6247	RS1	OMIM:312700
HP:0007401	Macular atrophy	9094	UNC119	OMIM:620342
HP:0007401	Macular atrophy	10733	PLK4	OMIM:616171
HP:0007401	Macular atrophy	3000	GUCY2D	OMIM:601777
HP:0007401	Macular atrophy	3000	GUCY2D	ORPHA:75377
HP:0007401	Macular atrophy	5961	PRPH2	ORPHA:52427
HP:0007401	Macular atrophy	5961	PRPH2	OMIM:608161
HP:0007401	Macular atrophy	5961	PRPH2	ORPHA:75377
HP:0007401	Macular atrophy	6017	RLBP1	ORPHA:52427
HP:0007401	Macular atrophy	6010	RHO	ORPHA:52427
HP:0007401	Macular atrophy	5959	RDH5	ORPHA:52427
HP:0007401	Macular atrophy	9742	IFT140	OMIM:617781
HP:0007401	Macular atrophy	114902	C1QTNF5	ORPHA:67042
HP:0007401	Macular atrophy	2629	GBA1	OMIM:230800
HP:0007401	Macular atrophy	3098	HK1	OMIM:617460
HP:0007401	Macular atrophy	5130	PCYT1A	ORPHA:85167
HP:0007401	Macular atrophy	5130	PCYT1A	OMIM:608940
HP:0007401	Macular atrophy	10461	MERTK	OMIM:613862
HP:0007401	Macular atrophy	169522	KCNV2	OMIM:610356
HP:0007401	Macular atrophy	57096	RPGRIP1	OMIM:613826
HP:0007401	Macular atrophy	57096	RPGRIP1	OMIM:608194
HP:0007401	Macular atrophy	2978	GUCA1A	ORPHA:75377
HP:0007401	Macular atrophy	2978	GUCA1A	OMIM:602093
HP:0007401	Macular atrophy	6785	ELOVL4	OMIM:600110
HP:0007401	Macular atrophy	57724	EPG5	OMIM:242840
HP:0007401	Macular atrophy	7867	MAPKAPK3	OMIM:617111
HP:0007401	Macular atrophy	128338	DRAM2	OMIM:616502
HP:0007401	Macular atrophy	4901	NRL	OMIM:613750
HP:0007401	Macular atrophy	8565	YARS1	OMIM:619418
HP:0007401	Macular atrophy	57728	WDR19	OMIM:616307
HP:0007401	Macular atrophy	9187	SLC24A1	OMIM:613830
HP:0007401	Macular atrophy	26504	CNNM4	OMIM:217080
HP:0007401	Macular atrophy	6533	SLC6A6	OMIM:145350
HP:0007401	Macular atrophy	344658	SAMD7	OMIM:620762
HP:0007401	Macular atrophy	6100	RP9	OMIM:180104
HP:0007401	Macular atrophy	64802	NMNAT1	OMIM:608553
HP:0007401	Macular atrophy	64802	NMNAT1	OMIM:619260
HP:0007401	Macular atrophy	4990	SIX6	OMIM:212550
HP:0007401	Macular atrophy	23746	AIPL1	OMIM:604393
HP:0007401	Macular atrophy	1001	CDH3	OMIM:601553
HP:0007401	Macular atrophy	129880	BBS5	OMIM:615983
HP:0007401	Macular atrophy	22926	ATF6	OMIM:616517
HP:0007401	Macular atrophy	4982	TNFRSF11B	OMIM:239000
HP:0007401	Macular atrophy	3105	HLA-A	ORPHA:179
HP:0007401	Macular atrophy	6452	SH3BP2	OMIM:118400
HP:0007402	Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines	5116	PCNT	OMIM:210720
HP:0007403	Hypertrophy of skin of soles	207	AKT1	OMIM:176920
HP:0007404	Nonepidermolytic palmoplantar hyperkeratosis	3848	KRT1	OMIM:600962
HP:0007404	Nonepidermolytic palmoplantar hyperkeratosis	3848	KRT1	ORPHA:530838
HP:0007404	Nonepidermolytic palmoplantar hyperkeratosis	57152	SLURP1	ORPHA:87503
HP:0007489	Diffuse telangiectasia	5184	PEPD	OMIM:170100
HP:0033542	Bronchial wall thickening	96459	FNIP1	OMIM:619705
HP:0033542	Bronchial wall thickening	54768	HYDIN	OMIM:608647
HP:0033542	Bronchial wall thickening	5062	PAK2	OMIM:618458
HP:0033542	Bronchial wall thickening	21	ABCA3	OMIM:610921
HP:0033542	Bronchial wall thickening	10551	AGR2	OMIM:620233
HP:0033542	Bronchial wall thickening	79989	IFT56	OMIM:619534
HP:0033542	Bronchial wall thickening	6440	SFTPC	OMIM:610913
HP:0012712	Mild hearing impairment	5238	PGM3	ORPHA:443811
HP:0012712	Mild hearing impairment	9927	MFN2	OMIM:601152
HP:0012712	Mild hearing impairment	1513	CTSK	ORPHA:763
HP:0012712	Mild hearing impairment	9968	MED12	OMIM:301068
HP:0012712	Mild hearing impairment	1801	DPH1	ORPHA:459061
HP:0012712	Mild hearing impairment	1802	DPH2	ORPHA:459061
HP:0012712	Mild hearing impairment	25885	POLR1A	OMIM:616462
HP:0012712	Mild hearing impairment	1278	COL1A2	ORPHA:230851
HP:0012714	Severe hearing impairment	10804	GJB6	ORPHA:477
HP:0012714	Severe hearing impairment	2706	GJB2	ORPHA:477
HP:0012714	Severe hearing impairment	7840	ALMS1	ORPHA:64
HP:0012714	Severe hearing impairment	29899	GPSM2	OMIM:604213
HP:0012714	Severe hearing impairment	11078	TRIOBP	OMIM:609823
HP:0012714	Severe hearing impairment	30813	VSX1	OMIM:614195
HP:0012714	Severe hearing impairment	7084	TK2	ORPHA:254875
HP:0012714	Severe hearing impairment	22856	CHSY1	ORPHA:363417
HP:0012714	Severe hearing impairment	8085	KMT2D	OMIM:620186
HP:0012714	Severe hearing impairment	526	ATP6V1B2	ORPHA:79499
HP:0012714	Severe hearing impairment	5781	PTPN11	ORPHA:500
HP:0012714	Severe hearing impairment	673	BRAF	ORPHA:500
HP:0012714	Severe hearing impairment	5894	RAF1	ORPHA:500
HP:0012714	Severe hearing impairment	1278	COL1A2	ORPHA:230851
HP:0012715	Profound hearing impairment	5962	RDX	OMIM:611022
HP:0012715	Profound hearing impairment	3735	KARS1	OMIM:619196
HP:0012715	Profound hearing impairment	10518	CIB2	OMIM:609439
HP:0012715	Profound hearing impairment	4762	NEUROG1	OMIM:620469
HP:0012715	Profound hearing impairment	5376	PMP22	ORPHA:90658
HP:0012715	Profound hearing impairment	3753	KCNE1	ORPHA:90647
HP:0012715	Profound hearing impairment	3784	KCNQ1	ORPHA:90647
HP:0012715	Profound hearing impairment	5631	PRPS1	ORPHA:1187
HP:0012715	Profound hearing impairment	6558	SLC12A2	OMIM:619081
HP:0012715	Profound hearing impairment	51168	MYO15A	OMIM:600316
HP:0012715	Profound hearing impairment	2248	FGF3	OMIM:610706
HP:0012715	Profound hearing impairment	8565	YARS1	OMIM:619418
HP:0012715	Profound hearing impairment	2059	EPS8	OMIM:615974
HP:0012717	Severe conductive hearing impairment	1278	COL1A2	ORPHA:230851
HP:0012718	Abnormal gastrointestinal tract morphology	92002	CCNQ	OMIM:300707
HP:0012718	Abnormal gastrointestinal tract morphology	9401	RECQL4	OMIM:218600
HP:0012718	Abnormal gastrointestinal tract morphology	267010	RNU12	OMIM:603116
HP:0012718	Abnormal gastrointestinal tract morphology	374654	KIF7	OMIM:200990
HP:0012718	Abnormal gastrointestinal tract morphology	51339	DACT1	OMIM:617466
HP:0012718	Abnormal gastrointestinal tract morphology	51339	DACT1	ORPHA:857
HP:0012718	Abnormal gastrointestinal tract morphology	1642	DDB1	OMIM:619426
HP:0012718	Abnormal gastrointestinal tract morphology	158326	FREM1	OMIM:608980
HP:0012718	Abnormal gastrointestinal tract morphology	7450	VWF	OMIM:193400
HP:0012718	Abnormal gastrointestinal tract morphology	375	ARF1	ORPHA:98892
HP:0012718	Abnormal gastrointestinal tract morphology	4131	MAP1B	ORPHA:98892
HP:0012718	Abnormal gastrointestinal tract morphology	23327	NEDD4L	ORPHA:98892
HP:0012718	Abnormal gastrointestinal tract morphology	160418	TMTC3	ORPHA:98892
HP:0012718	Abnormal gastrointestinal tract morphology	10564	ARFGEF2	ORPHA:98892
HP:0012718	Abnormal gastrointestinal tract morphology	55780	ERMARD	ORPHA:98892
HP:0012718	Abnormal gastrointestinal tract morphology	8260	NAA10	OMIM:309800
HP:0012718	Abnormal gastrointestinal tract morphology	91754	NEK9	OMIM:614262
HP:0012718	Abnormal gastrointestinal tract morphology	8425	LTBP4	OMIM:613177
HP:0012718	Abnormal gastrointestinal tract morphology	6885	MAP3K7	OMIM:617137
HP:0012718	Abnormal gastrointestinal tract morphology	4744	NEFH	OMIM:616924
HP:0012718	Abnormal gastrointestinal tract morphology	9759	HDAC4	ORPHA:1001
HP:0012718	Abnormal gastrointestinal tract morphology	4534	MTM1	OMIM:310400
HP:0012718	Abnormal gastrointestinal tract morphology	6928	HNF1B	ORPHA:93111
HP:0012718	Abnormal gastrointestinal tract morphology	274	BIN1	ORPHA:169189
HP:0012718	Abnormal gastrointestinal tract morphology	64419	MTMR14	ORPHA:169189
HP:0012718	Abnormal gastrointestinal tract morphology	4618	MYF6	ORPHA:169189
HP:0012718	Abnormal gastrointestinal tract morphology	1785	DNM2	ORPHA:169189
HP:0012718	Abnormal gastrointestinal tract morphology	6261	RYR1	ORPHA:169189
HP:0012718	Abnormal gastrointestinal tract morphology	80781	COL18A1	OMIM:267750
HP:0012718	Abnormal gastrointestinal tract morphology	80781	COL18A1	ORPHA:1571
HP:0012718	Abnormal gastrointestinal tract morphology	388015	RTL1	ORPHA:96184
HP:0012718	Abnormal gastrointestinal tract morphology	8788	DLK1	ORPHA:96184
HP:0012718	Abnormal gastrointestinal tract morphology	55384	MEG3	ORPHA:96184
HP:0012718	Abnormal gastrointestinal tract morphology	613	BCR	ORPHA:261330
HP:0012718	Abnormal gastrointestinal tract morphology	1399	CRKL	ORPHA:261330
HP:0012718	Abnormal gastrointestinal tract morphology	5594	MAPK1	ORPHA:261330
HP:0012718	Abnormal gastrointestinal tract morphology	5831	PYCR1	OMIM:614438
HP:0012718	Abnormal gastrointestinal tract morphology	6926	TBX3	ORPHA:3138
HP:0012718	Abnormal gastrointestinal tract morphology	6926	TBX3	OMIM:181450
HP:0012718	Abnormal gastrointestinal tract morphology	4868	NPHS1	OMIM:256300
HP:0012718	Abnormal gastrointestinal tract morphology	63895	PIEZO2	OMIM:248700
HP:0012718	Abnormal gastrointestinal tract morphology	63895	PIEZO2	ORPHA:2461
HP:0012718	Abnormal gastrointestinal tract morphology	4784	NFIX	OMIM:602535
HP:0012718	Abnormal gastrointestinal tract morphology	5528	PPP2R5D	ORPHA:457279
HP:0012718	Abnormal gastrointestinal tract morphology	5528	PPP2R5D	OMIM:616355
HP:0012718	Abnormal gastrointestinal tract morphology	4791	NFKB2	OMIM:615577
HP:0012718	Abnormal gastrointestinal tract morphology	284058	KANSL1	OMIM:610443
HP:0012718	Abnormal gastrointestinal tract morphology	9896	FIG4	OMIM:216340
HP:0012718	Abnormal gastrointestinal tract morphology	9896	FIG4	ORPHA:3472
HP:0012718	Abnormal gastrointestinal tract morphology	55697	VAC14	ORPHA:3472
HP:0012718	Abnormal gastrointestinal tract morphology	404672	GTF2H5	OMIM:616395
HP:0012718	Abnormal gastrointestinal tract morphology	25970	SH2B1	ORPHA:261197
HP:0012718	Abnormal gastrointestinal tract morphology	127833	SYT2	OMIM:619461
HP:0012718	Abnormal gastrointestinal tract morphology	529	ATP6V1E1	OMIM:617402
HP:0012718	Abnormal gastrointestinal tract morphology	55012	PPP2R3C	OMIM:618419
HP:0012718	Abnormal gastrointestinal tract morphology	5062	PAK2	OMIM:618458
HP:0012718	Abnormal gastrointestinal tract morphology	5062	PAK2	ORPHA:1571
HP:0012718	Abnormal gastrointestinal tract morphology	2582	GALE	OMIM:620776
HP:0012718	Abnormal gastrointestinal tract morphology	55670	PEX26	ORPHA:912
HP:0012718	Abnormal gastrointestinal tract morphology	5824	PEX19	ORPHA:912
HP:0012718	Abnormal gastrointestinal tract morphology	5828	PEX2	ORPHA:912
HP:0012718	Abnormal gastrointestinal tract morphology	8504	PEX3	ORPHA:912
HP:0012718	Abnormal gastrointestinal tract morphology	8799	PEX11B	ORPHA:912
HP:0012718	Abnormal gastrointestinal tract morphology	9409	PEX16	ORPHA:912
HP:0012718	Abnormal gastrointestinal tract morphology	5190	PEX6	ORPHA:912
HP:0012718	Abnormal gastrointestinal tract morphology	5830	PEX5	ORPHA:912
HP:0012718	Abnormal gastrointestinal tract morphology	5189	PEX1	ORPHA:912
HP:0012718	Abnormal gastrointestinal tract morphology	5193	PEX12	ORPHA:912
HP:0012718	Abnormal gastrointestinal tract morphology	5194	PEX13	ORPHA:912
HP:0012718	Abnormal gastrointestinal tract morphology	5195	PEX14	ORPHA:912
HP:0012718	Abnormal gastrointestinal tract morphology	5192	PEX10	ORPHA:912
HP:0012718	Abnormal gastrointestinal tract morphology	3265	HRAS	OMIM:218040
HP:0012718	Abnormal gastrointestinal tract morphology	871	SERPINH1	OMIM:613848
HP:0012718	Abnormal gastrointestinal tract morphology	1294	COL7A1	OMIM:226600
HP:0012718	Abnormal gastrointestinal tract morphology	1294	COL7A1	ORPHA:89842
HP:0012718	Abnormal gastrointestinal tract morphology	673	BRAF	OMIM:613706
HP:0012718	Abnormal gastrointestinal tract morphology	6657	SOX2	ORPHA:77298
HP:0012718	Abnormal gastrointestinal tract morphology	6657	SOX2	OMIM:206900
HP:0012718	Abnormal gastrointestinal tract morphology	6657	SOX2	ORPHA:3157
HP:0012718	Abnormal gastrointestinal tract morphology	7528	YY1	ORPHA:506358
HP:0012718	Abnormal gastrointestinal tract morphology	2294	FOXF1	OMIM:265380
HP:0012718	Abnormal gastrointestinal tract morphology	2263	FGFR2	ORPHA:87
HP:0012718	Abnormal gastrointestinal tract morphology	2263	FGFR2	OMIM:101200
HP:0012718	Abnormal gastrointestinal tract morphology	2177	FANCD2	OMIM:227646
HP:0012718	Abnormal gastrointestinal tract morphology	2072	ERCC4	OMIM:615272
HP:0012718	Abnormal gastrointestinal tract morphology	55120	FANCL	OMIM:614083
HP:0012718	Abnormal gastrointestinal tract morphology	3691	ITGB4	OMIM:226730
HP:0012718	Abnormal gastrointestinal tract morphology	5339	PLEC	OMIM:226730
HP:0012718	Abnormal gastrointestinal tract morphology	2187	FANCB	OMIM:300514
HP:0012718	Abnormal gastrointestinal tract morphology	2187	FANCB	OMIM:314390
HP:0012718	Abnormal gastrointestinal tract morphology	2187	FANCB	ORPHA:3412
HP:0012718	Abnormal gastrointestinal tract morphology	10606	PAICS	OMIM:619859
HP:0012718	Abnormal gastrointestinal tract morphology	6023	RMRP	OMIM:250250
HP:0012718	Abnormal gastrointestinal tract morphology	5422	POLA1	OMIM:301030
HP:0012718	Abnormal gastrointestinal tract morphology	55112	DYNC2I1	ORPHA:93271
HP:0012718	Abnormal gastrointestinal tract morphology	57560	IFT80	ORPHA:93271
HP:0012718	Abnormal gastrointestinal tract morphology	57539	WDR35	ORPHA:93271
HP:0012718	Abnormal gastrointestinal tract morphology	79659	DYNC2H1	ORPHA:93271
HP:0012718	Abnormal gastrointestinal tract morphology	89891	DYNC2I2	ORPHA:93271
HP:0012718	Abnormal gastrointestinal tract morphology	7547	ZIC3	OMIM:314390
HP:0012718	Abnormal gastrointestinal tract morphology	51729	WBP11	OMIM:619227
HP:0012718	Abnormal gastrointestinal tract morphology	55636	CHD7	OMIM:214800
HP:0012718	Abnormal gastrointestinal tract morphology	10046	MAMLD1	ORPHA:95706
HP:0012718	Abnormal gastrointestinal tract morphology	367	AR	ORPHA:95706
HP:0012718	Abnormal gastrointestinal tract morphology	6602	SMARCD1	OMIM:618779
HP:0012718	Abnormal gastrointestinal tract morphology	4990	SIX6	OMIM:206900
HP:0012718	Abnormal gastrointestinal tract morphology	9343	EFTUD2	OMIM:610536
HP:0012718	Abnormal gastrointestinal tract morphology	128674	PROKR2	ORPHA:3157
HP:0012718	Abnormal gastrointestinal tract morphology	6658	SOX3	ORPHA:3157
HP:0012718	Abnormal gastrointestinal tract morphology	9915	ARNT2	ORPHA:3157
HP:0012718	Abnormal gastrointestinal tract morphology	8820	HESX1	ORPHA:3157
HP:0012718	Abnormal gastrointestinal tract morphology	5015	OTX2	ORPHA:3157
HP:0012718	Abnormal gastrointestinal tract morphology	5053	PAH	ORPHA:2209
HP:0012718	Abnormal gastrointestinal tract morphology	55650	PIGV	OMIM:239300
HP:0012718	Abnormal gastrointestinal tract morphology	54539	NDUFB11	ORPHA:2556
HP:0012718	Abnormal gastrointestinal tract morphology	1349	COX7B	ORPHA:2556
HP:0012718	Abnormal gastrointestinal tract morphology	3052	HCCS	ORPHA:2556
HP:0012718	Abnormal gastrointestinal tract morphology	54808	DYM	OMIM:223800
HP:0012718	Abnormal gastrointestinal tract morphology	6197	RPS6KA3	OMIM:303600
HP:0012718	Abnormal gastrointestinal tract morphology	3981	LIG4	ORPHA:235
HP:0012718	Abnormal gastrointestinal tract morphology	54888	NSUN2	ORPHA:235
HP:0012718	Abnormal gastrointestinal tract morphology	54496	PRMT7	OMIM:617157
HP:0012718	Abnormal gastrointestinal tract morphology	4000	LMNA	OMIM:619793
HP:0012718	Abnormal gastrointestinal tract morphology	3643	INSR	OMIM:246200
HP:0012718	Abnormal gastrointestinal tract morphology	3643	INSR	ORPHA:508
HP:0012718	Abnormal gastrointestinal tract morphology	2947	GSTM3	ORPHA:586
HP:0012718	Abnormal gastrointestinal tract morphology	2729	GCLC	ORPHA:586
HP:0012718	Abnormal gastrointestinal tract morphology	1084	CEACAM3	ORPHA:586
HP:0012718	Abnormal gastrointestinal tract morphology	6556	SLC11A1	ORPHA:586
HP:0012718	Abnormal gastrointestinal tract morphology	51164	DCTN4	ORPHA:586
HP:0012718	Abnormal gastrointestinal tract morphology	3783	KCNN4	ORPHA:586
HP:0012718	Abnormal gastrointestinal tract morphology	4282	MIF	ORPHA:586
HP:0012718	Abnormal gastrointestinal tract morphology	1909	EDNRA	ORPHA:586
HP:0012718	Abnormal gastrointestinal tract morphology	3162	HMOX1	ORPHA:586
HP:0012718	Abnormal gastrointestinal tract morphology	115019	SLC26A9	ORPHA:586
HP:0012718	Abnormal gastrointestinal tract morphology	3077	HFE	ORPHA:586
HP:0012718	Abnormal gastrointestinal tract morphology	11254	SLC6A14	ORPHA:586
HP:0012718	Abnormal gastrointestinal tract morphology	22802	CLCA4	ORPHA:586
HP:0012718	Abnormal gastrointestinal tract morphology	4680	CEACAM6	ORPHA:586
HP:0012718	Abnormal gastrointestinal tract morphology	84231	TRAF7	OMIM:618164
HP:0012718	Abnormal gastrointestinal tract morphology	84942	WDR73	OMIM:251300
HP:0012718	Abnormal gastrointestinal tract morphology	84942	WDR73	ORPHA:2065
HP:0012718	Abnormal gastrointestinal tract morphology	5832	ALDH18A1	OMIM:601162
HP:0012718	Abnormal gastrointestinal tract morphology	1277	COL1A1	ORPHA:287
HP:0012718	Abnormal gastrointestinal tract morphology	1290	COL5A2	ORPHA:287
HP:0012718	Abnormal gastrointestinal tract morphology	7148	TNXB	OMIM:606408
HP:0012718	Abnormal gastrointestinal tract morphology	7043	TGFB3	OMIM:615582
HP:0012718	Abnormal gastrointestinal tract morphology	169792	GLIS3	OMIM:610199
HP:0012718	Abnormal gastrointestinal tract morphology	23261	CAMTA1	OMIM:614756
HP:0012718	Abnormal gastrointestinal tract morphology	84520	GON7	OMIM:619603
HP:0012718	Abnormal gastrointestinal tract morphology	84520	GON7	ORPHA:2065
HP:0012718	Abnormal gastrointestinal tract morphology	79693	YRDC	ORPHA:2065
HP:0012718	Abnormal gastrointestinal tract morphology	51002	TPRKB	ORPHA:2065
HP:0012718	Abnormal gastrointestinal tract morphology	55644	OSGEP	ORPHA:2065
HP:0012718	Abnormal gastrointestinal tract morphology	55644	OSGEP	OMIM:617729
HP:0012718	Abnormal gastrointestinal tract morphology	57122	NUP107	ORPHA:2065
HP:0012718	Abnormal gastrointestinal tract morphology	10785	WDR4	ORPHA:2065
HP:0012718	Abnormal gastrointestinal tract morphology	55746	NUP133	ORPHA:2065
HP:0012718	Abnormal gastrointestinal tract morphology	112858	TP53RK	ORPHA:2065
HP:0012718	Abnormal gastrointestinal tract morphology	8270	LAGE3	ORPHA:2065
HP:0012718	Abnormal gastrointestinal tract morphology	51341	ZBTB7A	OMIM:619769
HP:0012718	Abnormal gastrointestinal tract morphology	7454	WAS	OMIM:301000
HP:0012718	Abnormal gastrointestinal tract morphology	7454	WAS	ORPHA:906
HP:0012718	Abnormal gastrointestinal tract morphology	57680	CHD8	OMIM:615032
HP:0012718	Abnormal gastrointestinal tract morphology	5243	ABCB1	OMIM:612244
HP:0012718	Abnormal gastrointestinal tract morphology	3257	HPS1	OMIM:203300
HP:0012718	Abnormal gastrointestinal tract morphology	987	LRBA	OMIM:614700
HP:0012718	Abnormal gastrointestinal tract morphology	7456	WIPF1	ORPHA:906
HP:0012718	Abnormal gastrointestinal tract morphology	8737	RIPK1	OMIM:618108
HP:0012718	Abnormal gastrointestinal tract morphology	2542	SLC37A4	OMIM:232220
HP:0012718	Abnormal gastrointestinal tract morphology	2542	SLC37A4	ORPHA:79259
HP:0012718	Abnormal gastrointestinal tract morphology	2542	SLC37A4	OMIM:232240
HP:0012718	Abnormal gastrointestinal tract morphology	59067	IL21	OMIM:615767
HP:0012718	Abnormal gastrointestinal tract morphology	2165	F13B	ORPHA:331
HP:0012718	Abnormal gastrointestinal tract morphology	2162	F13A1	ORPHA:331
HP:0012718	Abnormal gastrointestinal tract morphology	3123	HLA-DRB1	OMIM:181000
HP:0012718	Abnormal gastrointestinal tract morphology	10616	RBCK1	OMIM:615895
HP:0012718	Abnormal gastrointestinal tract morphology	5777	PTPN6	ORPHA:3243
HP:0012718	Abnormal gastrointestinal tract morphology	345611	IRGM	OMIM:612278
HP:0012718	Abnormal gastrointestinal tract morphology	8517	IKBKG	ORPHA:98813
HP:0012718	Abnormal gastrointestinal tract morphology	4792	NFKBIA	ORPHA:98813
HP:0012718	Abnormal gastrointestinal tract morphology	2395	FXN	ORPHA:95
HP:0012718	Abnormal gastrointestinal tract morphology	9968	MED12	OMIM:301068
HP:0012718	Abnormal gastrointestinal tract morphology	3988	LIPA	ORPHA:75233
HP:0012718	Abnormal gastrointestinal tract morphology	3988	LIPA	OMIM:278000
HP:0012718	Abnormal gastrointestinal tract morphology	3988	LIPA	ORPHA:75234
HP:0012718	Abnormal gastrointestinal tract morphology	2658	GDF2	ORPHA:774
HP:0012718	Abnormal gastrointestinal tract morphology	94	ACVRL1	ORPHA:774
HP:0012718	Abnormal gastrointestinal tract morphology	4089	SMAD4	ORPHA:774
HP:0012718	Abnormal gastrointestinal tract morphology	2022	ENG	ORPHA:774
HP:0012718	Abnormal gastrointestinal tract morphology	875	CBS	ORPHA:394
HP:0012718	Abnormal gastrointestinal tract morphology	7840	ALMS1	ORPHA:64
HP:0012718	Abnormal gastrointestinal tract morphology	811	CALR	ORPHA:131
HP:0012718	Abnormal gastrointestinal tract morphology	3717	JAK2	ORPHA:131
HP:0012718	Abnormal gastrointestinal tract morphology	2153	F5	ORPHA:131
HP:0012718	Abnormal gastrointestinal tract morphology	2629	GBA1	ORPHA:2072
HP:0012718	Abnormal gastrointestinal tract morphology	79989	IFT56	OMIM:619534
HP:0012718	Abnormal gastrointestinal tract morphology	5314	PKHD1	OMIM:263200
HP:0012718	Abnormal gastrointestinal tract morphology	5314	PKHD1	ORPHA:53035
HP:0012718	Abnormal gastrointestinal tract morphology	5314	PKHD1	ORPHA:731
HP:0012718	Abnormal gastrointestinal tract morphology	55532	SLC30A10	ORPHA:309854
HP:0012718	Abnormal gastrointestinal tract morphology	54567	DLL4	OMIM:616589
HP:0012718	Abnormal gastrointestinal tract morphology	54567	DLL4	ORPHA:974
HP:0012718	Abnormal gastrointestinal tract morphology	2632	GBE1	OMIM:232500
HP:0012718	Abnormal gastrointestinal tract morphology	4851	NOTCH1	OMIM:616028
HP:0012718	Abnormal gastrointestinal tract morphology	4851	NOTCH1	ORPHA:974
HP:0012718	Abnormal gastrointestinal tract morphology	3875	KRT18	OMIM:215600
HP:0012718	Abnormal gastrointestinal tract morphology	10056	FARSB	OMIM:613658
HP:0012718	Abnormal gastrointestinal tract morphology	25913	POT1	OMIM:620367
HP:0012718	Abnormal gastrointestinal tract morphology	91147	TMEM67	OMIM:216360
HP:0012718	Abnormal gastrointestinal tract morphology	91147	TMEM67	ORPHA:84081
HP:0012718	Abnormal gastrointestinal tract morphology	3594	IL12RB1	ORPHA:186
HP:0012718	Abnormal gastrointestinal tract morphology	23534	TNPO3	ORPHA:186
HP:0012718	Abnormal gastrointestinal tract morphology	3592	IL12A	ORPHA:186
HP:0012718	Abnormal gastrointestinal tract morphology	6689	SPIB	ORPHA:186
HP:0012718	Abnormal gastrointestinal tract morphology	5450	POU2AF1	ORPHA:186
HP:0012718	Abnormal gastrointestinal tract morphology	9966	TNFSF15	ORPHA:186
HP:0012718	Abnormal gastrointestinal tract morphology	79258	MMEL1	ORPHA:186
HP:0012718	Abnormal gastrointestinal tract morphology	3663	IRF5	ORPHA:186
HP:0012718	Abnormal gastrointestinal tract morphology	79991	STN1	OMIM:617341
HP:0012718	Abnormal gastrointestinal tract morphology	1716	DGUOK	OMIM:617068
HP:0012718	Abnormal gastrointestinal tract morphology	55340	GIMAP5	OMIM:619463
HP:0012718	Abnormal gastrointestinal tract morphology	5256	PHKA2	ORPHA:264580
HP:0012718	Abnormal gastrointestinal tract morphology	5261	PHKG2	ORPHA:264580
HP:0012718	Abnormal gastrointestinal tract morphology	113220	KIF12	OMIM:619662
HP:0012718	Abnormal gastrointestinal tract morphology	57511	COG6	OMIM:614576
HP:0012718	Abnormal gastrointestinal tract morphology	51816	ADA2	OMIM:615688
HP:0012718	Abnormal gastrointestinal tract morphology	51473	DCDC2	ORPHA:84081
HP:0012718	Abnormal gastrointestinal tract morphology	2783	GNB2	OMIM:619503
HP:0012718	Abnormal gastrointestinal tract morphology	9371	KIF3B	OMIM:618955
HP:0012718	Abnormal gastrointestinal tract morphology	540	ATP7B	OMIM:277900
HP:0012718	Abnormal gastrointestinal tract morphology	3516	RBPJ	ORPHA:974
HP:0012718	Abnormal gastrointestinal tract morphology	57514	ARHGAP31	ORPHA:974
HP:0012718	Abnormal gastrointestinal tract morphology	57572	DOCK6	ORPHA:974
HP:0012718	Abnormal gastrointestinal tract morphology	285203	EOGT	ORPHA:974
HP:0012718	Abnormal gastrointestinal tract morphology	199221	DZIP1L	ORPHA:731
HP:0012718	Abnormal gastrointestinal tract morphology	3909	LAMA3	ORPHA:79404
HP:0012718	Abnormal gastrointestinal tract morphology	3918	LAMC2	ORPHA:79404
HP:0012718	Abnormal gastrointestinal tract morphology	3914	LAMB3	ORPHA:79404
HP:0012718	Abnormal gastrointestinal tract morphology	3106	HLA-B	ORPHA:36426
HP:0012718	Abnormal gastrointestinal tract morphology	10320	IKZF1	ORPHA:36426
HP:0012718	Abnormal gastrointestinal tract morphology	54809	SAMD9	OMIM:617053
HP:0012718	Abnormal gastrointestinal tract morphology	79977	GRHL2	OMIM:616029
HP:0012718	Abnormal gastrointestinal tract morphology	10892	MALT1	OMIM:615468
HP:0012718	Abnormal gastrointestinal tract morphology	64858	DCLRE1B	OMIM:620133
HP:0012718	Abnormal gastrointestinal tract morphology	4854	NOTCH3	ORPHA:2591
HP:0012718	Abnormal gastrointestinal tract morphology	5159	PDGFRB	ORPHA:2591
HP:0012718	Abnormal gastrointestinal tract morphology	6772	STAT1	ORPHA:391487
HP:0012718	Abnormal gastrointestinal tract morphology	22900	CARD8	OMIM:619079
HP:0012718	Abnormal gastrointestinal tract morphology	6774	STAT3	OMIM:615952
HP:0012718	Abnormal gastrointestinal tract morphology	50943	FOXP3	ORPHA:37042
HP:0012718	Abnormal gastrointestinal tract morphology	5979	RET	ORPHA:1848
HP:0012718	Abnormal gastrointestinal tract morphology	8516	ITGA8	ORPHA:1848
HP:0012718	Abnormal gastrointestinal tract morphology	26281	FGF20	ORPHA:1848
HP:0012718	Abnormal gastrointestinal tract morphology	2674	GFRA1	ORPHA:1848
HP:0012718	Abnormal gastrointestinal tract morphology	7484	WNT9B	ORPHA:1848
HP:0012718	Abnormal gastrointestinal tract morphology	80000	GREB1L	ORPHA:1848
HP:0012718	Abnormal gastrointestinal tract morphology	5590	PRKCZ	ORPHA:1606
HP:0012718	Abnormal gastrointestinal tract morphology	2563	GABRD	ORPHA:1606
HP:0012718	Abnormal gastrointestinal tract morphology	23013	SPEN	ORPHA:1606
HP:0012718	Abnormal gastrointestinal tract morphology	8510	MMP23B	ORPHA:1606
HP:0012718	Abnormal gastrointestinal tract morphology	7798	LUZP1	ORPHA:1606
HP:0012718	Abnormal gastrointestinal tract morphology	6497	SKI	ORPHA:1606
HP:0012718	Abnormal gastrointestinal tract morphology	10630	PDPN	ORPHA:1606
HP:0012718	Abnormal gastrointestinal tract morphology	3339	HSPG2	ORPHA:1606
HP:0012718	Abnormal gastrointestinal tract morphology	10277	UBE4B	ORPHA:1606
HP:0012718	Abnormal gastrointestinal tract morphology	8514	KCNAB2	ORPHA:1606
HP:0012718	Abnormal gastrointestinal tract morphology	473	RERE	ORPHA:1606
HP:0012718	Abnormal gastrointestinal tract morphology	63976	PRDM16	ORPHA:1606
HP:0012718	Abnormal gastrointestinal tract morphology	54897	CASZ1	ORPHA:1606
HP:0012718	Abnormal gastrointestinal tract morphology	83737	ITCH	ORPHA:228426
HP:0012718	Abnormal gastrointestinal tract morphology	1281	COL3A1	ORPHA:286
HP:0012718	Abnormal gastrointestinal tract morphology	1604	CD55	OMIM:226300
HP:0012718	Abnormal gastrointestinal tract morphology	162	AP1B1	ORPHA:171851
HP:0012718	Abnormal gastrointestinal tract morphology	1174	AP1S1	ORPHA:171851
HP:0012718	Abnormal gastrointestinal tract morphology	5728	PTEN	ORPHA:397596
HP:0012718	Abnormal gastrointestinal tract morphology	5293	PIK3CD	ORPHA:397596
HP:0012718	Abnormal gastrointestinal tract morphology	5295	PIK3R1	ORPHA:397596
HP:0012718	Abnormal gastrointestinal tract morphology	50485	SMARCAL1	ORPHA:1830
HP:0012718	Abnormal gastrointestinal tract morphology	3110	MNX1	ORPHA:1552
HP:0012718	Abnormal gastrointestinal tract morphology	917	CD3G	OMIM:615607
HP:0012718	Abnormal gastrointestinal tract morphology	4645	MYO5B	OMIM:251850
HP:0012718	Abnormal gastrointestinal tract morphology	1908	EDN3	ORPHA:897
HP:0012718	Abnormal gastrointestinal tract morphology	4286	MITF	ORPHA:897
HP:0012718	Abnormal gastrointestinal tract morphology	1910	EDNRB	ORPHA:897
HP:0012718	Abnormal gastrointestinal tract morphology	6663	SOX10	ORPHA:897
HP:0012718	Abnormal gastrointestinal tract morphology	83483	PLVAP	OMIM:618183
HP:0012718	Abnormal gastrointestinal tract morphology	4351	MPI	ORPHA:79319
HP:0012718	Abnormal gastrointestinal tract morphology	4351	MPI	OMIM:602579
HP:0012718	Abnormal gastrointestinal tract morphology	54914	FOCAD	OMIM:619991
HP:0012718	Abnormal gastrointestinal tract morphology	5286	PIK3C2A	OMIM:618440
HP:0012718	Abnormal gastrointestinal tract morphology	29929	ALG6	ORPHA:79320
HP:0012718	Abnormal gastrointestinal tract morphology	56052	ALG1	ORPHA:79327
HP:0012718	Abnormal gastrointestinal tract morphology	100303755	PET117	OMIM:619063
HP:0012718	Abnormal gastrointestinal tract morphology	9508	ADAMTS3	OMIM:618154
HP:0012718	Abnormal gastrointestinal tract morphology	8694	DGAT1	OMIM:615863
HP:0012718	Abnormal gastrointestinal tract morphology	84342	COG8	ORPHA:95428
HP:0012718	Abnormal gastrointestinal tract morphology	29760	BLNK	OMIM:613502
HP:0012718	Abnormal gastrointestinal tract morphology	79053	ALG8	OMIM:608104
HP:0012718	Abnormal gastrointestinal tract morphology	7852	CXCR4	ORPHA:51636
HP:0012718	Abnormal gastrointestinal tract morphology	9939	RBM8A	OMIM:274000
HP:0012718	Abnormal gastrointestinal tract morphology	8241	RBM10	ORPHA:2886
HP:0012718	Abnormal gastrointestinal tract morphology	51684	SUFU	ORPHA:280200
HP:0012718	Abnormal gastrointestinal tract morphology	51780	KDM3B	OMIM:618846
HP:0012718	Abnormal gastrointestinal tract morphology	25914	RTTN	ORPHA:468631
HP:0012718	Abnormal gastrointestinal tract morphology	1859	DYRK1A	ORPHA:464311
HP:0012718	Abnormal gastrointestinal tract morphology	10262	SF3B4	OMIM:154400
HP:0012718	Abnormal gastrointestinal tract morphology	26128	KIFBP	OMIM:609460
HP:0012718	Abnormal gastrointestinal tract morphology	26128	KIFBP	ORPHA:66629
HP:0012718	Abnormal gastrointestinal tract morphology	64324	NSD1	ORPHA:821
HP:0012718	Abnormal gastrointestinal tract morphology	10297	APC2	ORPHA:821
HP:0012718	Abnormal gastrointestinal tract morphology	627	BDNF	ORPHA:661
HP:0012718	Abnormal gastrointestinal tract morphology	10660	LBX1	ORPHA:661
HP:0012718	Abnormal gastrointestinal tract morphology	283446	MYO1H	ORPHA:661
HP:0012718	Abnormal gastrointestinal tract morphology	8929	PHOX2B	ORPHA:661
HP:0012718	Abnormal gastrointestinal tract morphology	8929	PHOX2B	ORPHA:99803
HP:0012718	Abnormal gastrointestinal tract morphology	8929	PHOX2B	ORPHA:2151
HP:0012718	Abnormal gastrointestinal tract morphology	8929	PHOX2B	OMIM:209880
HP:0012718	Abnormal gastrointestinal tract morphology	8929	PHOX2B	OMIM:613013
HP:0012718	Abnormal gastrointestinal tract morphology	23322	RPGRIP1L	ORPHA:220497
HP:0012718	Abnormal gastrointestinal tract morphology	65062	TMEM237	ORPHA:220497
HP:0012718	Abnormal gastrointestinal tract morphology	65062	TMEM237	ORPHA:2318
HP:0012718	Abnormal gastrointestinal tract morphology	65062	TMEM237	ORPHA:475
HP:0012718	Abnormal gastrointestinal tract morphology	83479	DDX59	OMIM:174300
HP:0012718	Abnormal gastrointestinal tract morphology	83479	DDX59	ORPHA:2919
HP:0012718	Abnormal gastrointestinal tract morphology	54806	AHI1	ORPHA:220493
HP:0012718	Abnormal gastrointestinal tract morphology	54806	AHI1	ORPHA:475
HP:0012718	Abnormal gastrointestinal tract morphology	56623	INPP5E	ORPHA:220493
HP:0012718	Abnormal gastrointestinal tract morphology	56623	INPP5E	ORPHA:475
HP:0012718	Abnormal gastrointestinal tract morphology	153241	CEP120	ORPHA:220493
HP:0012718	Abnormal gastrointestinal tract morphology	153241	CEP120	ORPHA:475
HP:0012718	Abnormal gastrointestinal tract morphology	95681	CEP41	ORPHA:220493
HP:0012718	Abnormal gastrointestinal tract morphology	95681	CEP41	ORPHA:475
HP:0012718	Abnormal gastrointestinal tract morphology	429	ASCL1	ORPHA:99803
HP:0012718	Abnormal gastrointestinal tract morphology	170302	ARX	ORPHA:452
HP:0012718	Abnormal gastrointestinal tract morphology	84992	PIGY	ORPHA:247262
HP:0012718	Abnormal gastrointestinal tract morphology	84720	PIGO	ORPHA:247262
HP:0012718	Abnormal gastrointestinal tract morphology	84720	PIGO	OMIM:614749
HP:0012718	Abnormal gastrointestinal tract morphology	93210	PGAP3	ORPHA:247262
HP:0012718	Abnormal gastrointestinal tract morphology	284098	PIGW	ORPHA:247262
HP:0012718	Abnormal gastrointestinal tract morphology	27315	PGAP2	ORPHA:247262
HP:0012718	Abnormal gastrointestinal tract morphology	27315	PGAP2	OMIM:614207
HP:0012718	Abnormal gastrointestinal tract morphology	9487	PIGL	ORPHA:247262
HP:0012718	Abnormal gastrointestinal tract morphology	51360	MBTPS2	ORPHA:2273
HP:0012718	Abnormal gastrointestinal tract morphology	51360	MBTPS2	OMIM:308205
HP:0012718	Abnormal gastrointestinal tract morphology	51360	MBTPS2	ORPHA:85284
HP:0012718	Abnormal gastrointestinal tract morphology	79140	CCDC28B	OMIM:209900
HP:0012718	Abnormal gastrointestinal tract morphology	79583	TMEM231	ORPHA:2318
HP:0012718	Abnormal gastrointestinal tract morphology	51524	TMEM138	ORPHA:2318
HP:0012718	Abnormal gastrointestinal tract morphology	23090	ZNF423	ORPHA:2318
HP:0012718	Abnormal gastrointestinal tract morphology	57545	CC2D2A	ORPHA:2318
HP:0012718	Abnormal gastrointestinal tract morphology	5077	PAX3	OMIM:148820
HP:0012718	Abnormal gastrointestinal tract morphology	5077	PAX3	ORPHA:894
HP:0012718	Abnormal gastrointestinal tract morphology	26040	SETBP1	ORPHA:798
HP:0012718	Abnormal gastrointestinal tract morphology	9851	KIAA0753	ORPHA:475
HP:0012718	Abnormal gastrointestinal tract morphology	5147	PDE6D	ORPHA:475
HP:0012718	Abnormal gastrointestinal tract morphology	79600	TCTN1	ORPHA:475
HP:0012718	Abnormal gastrointestinal tract morphology	79848	CSPP1	ORPHA:475
HP:0012718	Abnormal gastrointestinal tract morphology	65250	CPLANE1	ORPHA:475
HP:0012718	Abnormal gastrointestinal tract morphology	200894	ARL13B	ORPHA:475
HP:0012718	Abnormal gastrointestinal tract morphology	9731	CEP104	ORPHA:475
HP:0012718	Abnormal gastrointestinal tract morphology	219844	HYLS1	ORPHA:475
HP:0012718	Abnormal gastrointestinal tract morphology	23247	KATNIP	ORPHA:475
HP:0012718	Abnormal gastrointestinal tract morphology	219854	TMEM218	ORPHA:475
HP:0012718	Abnormal gastrointestinal tract morphology	9786	KIAA0586	ORPHA:475
HP:0012718	Abnormal gastrointestinal tract morphology	79867	TCTN2	ORPHA:475
HP:0012718	Abnormal gastrointestinal tract morphology	80776	B9D2	ORPHA:475
HP:0012718	Abnormal gastrointestinal tract morphology	10464	PIBF1	ORPHA:475
HP:0012718	Abnormal gastrointestinal tract morphology	80210	ARMC9	ORPHA:475
HP:0012718	Abnormal gastrointestinal tract morphology	23116	TOGARAM1	ORPHA:475
HP:0012718	Abnormal gastrointestinal tract morphology	25776	CBY1	ORPHA:475
HP:0012718	Abnormal gastrointestinal tract morphology	27077	B9D1	ORPHA:475
HP:0012718	Abnormal gastrointestinal tract morphology	403	ARL3	ORPHA:475
HP:0012718	Abnormal gastrointestinal tract morphology	1654	DDX3X	ORPHA:3338
HP:0012718	Abnormal gastrointestinal tract morphology	6591	SNAI2	ORPHA:2884
HP:0012718	Abnormal gastrointestinal tract morphology	6591	SNAI2	ORPHA:895
HP:0012718	Abnormal gastrointestinal tract morphology	7299	TYR	ORPHA:895
HP:0012718	Abnormal gastrointestinal tract morphology	4254	KITLG	ORPHA:895
HP:0012718	Abnormal gastrointestinal tract morphology	3897	L1CAM	OMIM:304100
HP:0012718	Abnormal gastrointestinal tract morphology	3897	L1CAM	ORPHA:1497
HP:0012718	Abnormal gastrointestinal tract morphology	197131	UBR1	OMIM:243800
HP:0012718	Abnormal gastrointestinal tract morphology	5310	PKD1	OMIM:173900
HP:0012718	Abnormal gastrointestinal tract morphology	10516	FBLN5	ORPHA:90348
HP:0012718	Abnormal gastrointestinal tract morphology	10516	FBLN5	ORPHA:90349
HP:0012718	Abnormal gastrointestinal tract morphology	4052	LTBP1	ORPHA:90349
HP:0012718	Abnormal gastrointestinal tract morphology	4638	MYLK	OMIM:249210
HP:0012718	Abnormal gastrointestinal tract morphology	4638	MYLK	ORPHA:2241
HP:0012718	Abnormal gastrointestinal tract morphology	2138	EYA1	OMIM:113650
HP:0012718	Abnormal gastrointestinal tract morphology	6495	SIX1	OMIM:113650
HP:0012718	Abnormal gastrointestinal tract morphology	4750	NEK1	OMIM:263520
HP:0012718	Abnormal gastrointestinal tract morphology	2132	EXT2	OMIM:616682
HP:0012718	Abnormal gastrointestinal tract morphology	72	ACTG2	OMIM:619431
HP:0012718	Abnormal gastrointestinal tract morphology	72	ACTG2	ORPHA:2241
HP:0012718	Abnormal gastrointestinal tract morphology	79827	CLMP	OMIM:615237
HP:0012718	Abnormal gastrointestinal tract morphology	79827	CLMP	ORPHA:2301
HP:0012718	Abnormal gastrointestinal tract morphology	23556	PIGN	ORPHA:2059
HP:0012718	Abnormal gastrointestinal tract morphology	5885	RAD21	OMIM:614701
HP:0012718	Abnormal gastrointestinal tract morphology	5885	RAD21	ORPHA:199
HP:0012718	Abnormal gastrointestinal tract morphology	3659	IRF1	OMIM:620668
HP:0012718	Abnormal gastrointestinal tract morphology	6091	ROBO1	OMIM:620305
HP:0012718	Abnormal gastrointestinal tract morphology	1131	CHRM3	ORPHA:2970
HP:0012718	Abnormal gastrointestinal tract morphology	2627	GATA6	OMIM:600001
HP:0012718	Abnormal gastrointestinal tract morphology	2627	GATA6	ORPHA:2140
HP:0012718	Abnormal gastrointestinal tract morphology	2627	GATA6	ORPHA:2255
HP:0012718	Abnormal gastrointestinal tract morphology	1387	CREBBP	ORPHA:353281
HP:0012718	Abnormal gastrointestinal tract morphology	1387	CREBBP	ORPHA:353277
HP:0012718	Abnormal gastrointestinal tract morphology	80816	ASXL3	OMIM:615485
HP:0012718	Abnormal gastrointestinal tract morphology	89910	UBE3B	OMIM:244450
HP:0012718	Abnormal gastrointestinal tract morphology	8882	ZPR1	OMIM:619321
HP:0012718	Abnormal gastrointestinal tract morphology	25790	CFAP45	OMIM:619608
HP:0012718	Abnormal gastrointestinal tract morphology	2033	EP300	ORPHA:353284
HP:0012718	Abnormal gastrointestinal tract morphology	2033	EP300	OMIM:613684
HP:0012718	Abnormal gastrointestinal tract morphology	5915	RARB	OMIM:615524
HP:0012718	Abnormal gastrointestinal tract morphology	51259	TMEM216	OMIM:603194
HP:0012718	Abnormal gastrointestinal tract morphology	55997	CFC1	OMIM:605376
HP:0012718	Abnormal gastrointestinal tract morphology	57492	ARID1B	OMIM:135900
HP:0012718	Abnormal gastrointestinal tract morphology	54880	BCOR	ORPHA:2712
HP:0012718	Abnormal gastrointestinal tract morphology	815	CAMK2A	OMIM:617798
HP:0012718	Abnormal gastrointestinal tract morphology	4853	NOTCH2	OMIM:102500
HP:0012718	Abnormal gastrointestinal tract morphology	4853	NOTCH2	ORPHA:955
HP:0012718	Abnormal gastrointestinal tract morphology	7994	KAT6A	ORPHA:457193
HP:0012718	Abnormal gastrointestinal tract morphology	7994	KAT6A	OMIM:616268
HP:0012718	Abnormal gastrointestinal tract morphology	1063	CENPF	OMIM:243605
HP:0012718	Abnormal gastrointestinal tract morphology	118856	MMP21	OMIM:616749
HP:0012718	Abnormal gastrointestinal tract morphology	8626	TP63	ORPHA:93930
HP:0012718	Abnormal gastrointestinal tract morphology	3670	ISL1	ORPHA:93930
HP:0012718	Abnormal gastrointestinal tract morphology	1717	DHCR7	OMIM:270400
HP:0012718	Abnormal gastrointestinal tract morphology	8091	HMGA2	ORPHA:94063
HP:0012718	Abnormal gastrointestinal tract morphology	23592	LEMD3	ORPHA:94063
HP:0012718	Abnormal gastrointestinal tract morphology	23414	ZFPM2	ORPHA:2140
HP:0012718	Abnormal gastrointestinal tract morphology	9361	LONP1	ORPHA:2140
HP:0012718	Abnormal gastrointestinal tract morphology	25	ABL1	OMIM:617602
HP:0012718	Abnormal gastrointestinal tract morphology	2316	FLNA	ORPHA:2301
HP:0012718	Abnormal gastrointestinal tract morphology	2316	FLNA	OMIM:300048
HP:0012718	Abnormal gastrointestinal tract morphology	4036	LRP2	ORPHA:2143
HP:0012718	Abnormal gastrointestinal tract morphology	4036	LRP2	OMIM:222448
HP:0012718	Abnormal gastrointestinal tract morphology	2065	ERBB3	OMIM:243180
HP:0012718	Abnormal gastrointestinal tract morphology	2313	FLI1	ORPHA:2308
HP:0012718	Abnormal gastrointestinal tract morphology	3192	HNRNPU	ORPHA:238769
HP:0012718	Abnormal gastrointestinal tract morphology	23476	BRD4	ORPHA:199
HP:0012718	Abnormal gastrointestinal tract morphology	9126	SMC3	ORPHA:199
HP:0012718	Abnormal gastrointestinal tract morphology	6878	TAF6	ORPHA:199
HP:0012718	Abnormal gastrointestinal tract morphology	25836	NIPBL	ORPHA:199
HP:0012718	Abnormal gastrointestinal tract morphology	55869	HDAC8	ORPHA:199
HP:0012718	Abnormal gastrointestinal tract morphology	64840	PORCN	OMIM:305600
HP:0012718	Abnormal gastrointestinal tract morphology	6608	SMO	OMIM:601707
HP:0012718	Abnormal gastrointestinal tract morphology	6608	SMO	ORPHA:1553
HP:0012718	Abnormal gastrointestinal tract morphology	10526	IPO8	OMIM:619472
HP:0012718	Abnormal gastrointestinal tract morphology	222546	RFX6	OMIM:615710
HP:0012718	Abnormal gastrointestinal tract morphology	10653	SPINT2	OMIM:270420
HP:0012718	Abnormal gastrointestinal tract morphology	113189	CHST14	OMIM:601776
HP:0012718	Abnormal gastrointestinal tract morphology	1718	DHCR24	ORPHA:35107
HP:0012718	Abnormal gastrointestinal tract morphology	27031	NPHP3	OMIM:208540
HP:0012718	Abnormal gastrointestinal tract morphology	27031	NPHP3	ORPHA:3032
HP:0012718	Abnormal gastrointestinal tract morphology	28952	CCDC22	OMIM:300963
HP:0012718	Abnormal gastrointestinal tract morphology	28952	CCDC22	ORPHA:7
HP:0012718	Abnormal gastrointestinal tract morphology	112752	IFT43	OMIM:617866
HP:0012718	Abnormal gastrointestinal tract morphology	9772	TMEM94	OMIM:618316
HP:0012718	Abnormal gastrointestinal tract morphology	25802	LMOD1	ORPHA:2241
HP:0012718	Abnormal gastrointestinal tract morphology	139285	AMER1	OMIM:300373
HP:0012718	Abnormal gastrointestinal tract morphology	745	MYRF	OMIM:618280
HP:0012718	Abnormal gastrointestinal tract morphology	4087	SMAD2	OMIM:619657
HP:0012718	Abnormal gastrointestinal tract morphology	59	ACTA2	OMIM:613834
HP:0012718	Abnormal gastrointestinal tract morphology	79087	ALG12	ORPHA:79324
HP:0012718	Abnormal gastrointestinal tract morphology	25981	DNAH1	ORPHA:244
HP:0012718	Abnormal gastrointestinal tract morphology	115948	ODAD3	ORPHA:244
HP:0012718	Abnormal gastrointestinal tract morphology	54768	HYDIN	ORPHA:244
HP:0012718	Abnormal gastrointestinal tract morphology	352909	DNAAF3	ORPHA:244
HP:0012718	Abnormal gastrointestinal tract morphology	27148	STK36	ORPHA:244
HP:0012718	Abnormal gastrointestinal tract morphology	51314	NME8	ORPHA:244
HP:0012718	Abnormal gastrointestinal tract morphology	92749	DRC1	ORPHA:244
HP:0012718	Abnormal gastrointestinal tract morphology	54970	TTC12	ORPHA:244
HP:0012718	Abnormal gastrointestinal tract morphology	152110	NEK10	ORPHA:244
HP:0012718	Abnormal gastrointestinal tract morphology	8481	OFD1	ORPHA:244
HP:0012718	Abnormal gastrointestinal tract morphology	2302	FOXJ1	ORPHA:244
HP:0012718	Abnormal gastrointestinal tract morphology	221421	RSPH9	ORPHA:244
HP:0012718	Abnormal gastrointestinal tract morphology	85478	CCDC65	ORPHA:244
HP:0012718	Abnormal gastrointestinal tract morphology	55036	CCDC40	ORPHA:244
HP:0012718	Abnormal gastrointestinal tract morphology	51364	ZMYND10	ORPHA:244
HP:0012718	Abnormal gastrointestinal tract morphology	64446	DNAI2	ORPHA:244
HP:0012718	Abnormal gastrointestinal tract morphology	8382	NME5	ORPHA:244
HP:0012718	Abnormal gastrointestinal tract morphology	6674	SPAG1	ORPHA:244
HP:0012718	Abnormal gastrointestinal tract morphology	83544	DNAL1	ORPHA:244
HP:0012718	Abnormal gastrointestinal tract morphology	89765	RSPH1	ORPHA:244
HP:0012718	Abnormal gastrointestinal tract morphology	83538	ODAD4	ORPHA:244
HP:0012718	Abnormal gastrointestinal tract morphology	200373	CFAP221	ORPHA:244
HP:0012718	Abnormal gastrointestinal tract morphology	374407	DNAJB13	ORPHA:244
HP:0012718	Abnormal gastrointestinal tract morphology	55172	DNAAF2	ORPHA:244
HP:0012718	Abnormal gastrointestinal tract morphology	161582	DNAAF4	ORPHA:244
HP:0012718	Abnormal gastrointestinal tract morphology	2622	GAS8	ORPHA:244
HP:0012718	Abnormal gastrointestinal tract morphology	23639	DNAAF11	ORPHA:244
HP:0012718	Abnormal gastrointestinal tract morphology	27019	DNAI1	ORPHA:244
HP:0012718	Abnormal gastrointestinal tract morphology	345895	RSPH4A	ORPHA:244
HP:0012718	Abnormal gastrointestinal tract morphology	54919	DNAAF5	ORPHA:244
HP:0012718	Abnormal gastrointestinal tract morphology	6103	RPGR	ORPHA:244
HP:0012718	Abnormal gastrointestinal tract morphology	85452	CFAP74	ORPHA:244
HP:0012718	Abnormal gastrointestinal tract morphology	93233	ODAD1	ORPHA:244
HP:0012718	Abnormal gastrointestinal tract morphology	55130	ODAD2	ORPHA:244
HP:0012718	Abnormal gastrointestinal tract morphology	1767	DNAH5	ORPHA:244
HP:0012718	Abnormal gastrointestinal tract morphology	83861	RSPH3	ORPHA:244
HP:0012718	Abnormal gastrointestinal tract morphology	345643	MCIDAS	ORPHA:244
HP:0012718	Abnormal gastrointestinal tract morphology	56683	CFAP298	ORPHA:244
HP:0012718	Abnormal gastrointestinal tract morphology	79925	SPEF2	ORPHA:244
HP:0012718	Abnormal gastrointestinal tract morphology	10309	CCNO	ORPHA:244
HP:0012718	Abnormal gastrointestinal tract morphology	115399	LRRC56	ORPHA:244
HP:0012718	Abnormal gastrointestinal tract morphology	139212	DNAAF6	ORPHA:244
HP:0012718	Abnormal gastrointestinal tract morphology	123872	DNAAF1	ORPHA:244
HP:0012718	Abnormal gastrointestinal tract morphology	85016	CFAP300	ORPHA:244
HP:0012718	Abnormal gastrointestinal tract morphology	339829	CCDC39	ORPHA:244
HP:0012718	Abnormal gastrointestinal tract morphology	8701	DNAH11	ORPHA:244
HP:0012718	Abnormal gastrointestinal tract morphology	1770	DNAH9	ORPHA:244
HP:0012718	Abnormal gastrointestinal tract morphology	246176	GAS2L2	ORPHA:244
HP:0012718	Abnormal gastrointestinal tract morphology	9897	WASHC5	ORPHA:7
HP:0012718	Abnormal gastrointestinal tract morphology	57020	VPS35L	ORPHA:7
HP:0012718	Abnormal gastrointestinal tract morphology	56896	DPYSL5	ORPHA:7
HP:0012718	Abnormal gastrointestinal tract morphology	171023	ASXL1	OMIM:605039
HP:0012718	Abnormal gastrointestinal tract morphology	54903	MKS1	OMIM:249000
HP:0012718	Abnormal gastrointestinal tract morphology	2719	GPC3	OMIM:312870
HP:0012718	Abnormal gastrointestinal tract morphology	2239	GPC4	OMIM:312870
HP:0012718	Abnormal gastrointestinal tract morphology	10054	UBA2	OMIM:619959
HP:0012718	Abnormal gastrointestinal tract morphology	6804	STX1A	ORPHA:904
HP:0012718	Abnormal gastrointestinal tract morphology	7461	CLIP2	ORPHA:904
HP:0012718	Abnormal gastrointestinal tract morphology	84277	DNAJC30	ORPHA:904
HP:0012718	Abnormal gastrointestinal tract morphology	8468	FKBP6	ORPHA:904
HP:0012718	Abnormal gastrointestinal tract morphology	5982	RFC2	ORPHA:904
HP:0012718	Abnormal gastrointestinal tract morphology	2969	GTF2I	ORPHA:904
HP:0012718	Abnormal gastrointestinal tract morphology	3984	LIMK1	ORPHA:904
HP:0012718	Abnormal gastrointestinal tract morphology	9569	GTF2IRD1	ORPHA:904
HP:0012718	Abnormal gastrointestinal tract morphology	155382	VPS37D	ORPHA:904
HP:0012718	Abnormal gastrointestinal tract morphology	155368	METTL27	ORPHA:904
HP:0012718	Abnormal gastrointestinal tract morphology	114049	BUD23	ORPHA:904
HP:0012718	Abnormal gastrointestinal tract morphology	7458	EIF4H	ORPHA:904
HP:0012718	Abnormal gastrointestinal tract morphology	84163	GTF2IRD2	ORPHA:904
HP:0012718	Abnormal gastrointestinal tract morphology	26608	TBL2	ORPHA:904
HP:0012718	Abnormal gastrointestinal tract morphology	653361	NCF1	ORPHA:904
HP:0012718	Abnormal gastrointestinal tract morphology	653361	NCF1	ORPHA:379
HP:0012718	Abnormal gastrointestinal tract morphology	135886	TMEM270	ORPHA:904
HP:0012718	Abnormal gastrointestinal tract morphology	9031	BAZ1B	ORPHA:904
HP:0012718	Abnormal gastrointestinal tract morphology	2006	ELN	ORPHA:904
HP:0012718	Abnormal gastrointestinal tract morphology	6558	SLC12A2	OMIM:619083
HP:0012718	Abnormal gastrointestinal tract morphology	84172	POLR1B	ORPHA:861
HP:0012718	Abnormal gastrointestinal tract morphology	9533	POLR1C	ORPHA:861
HP:0012718	Abnormal gastrointestinal tract morphology	51082	POLR1D	ORPHA:861
HP:0012718	Abnormal gastrointestinal tract morphology	6949	TCOF1	ORPHA:861
HP:0012718	Abnormal gastrointestinal tract morphology	6299	SALL1	OMIM:107480
HP:0012718	Abnormal gastrointestinal tract morphology	55788	LMBRD1	OMIM:277380
HP:0012718	Abnormal gastrointestinal tract morphology	57466	SCAF4	OMIM:620511
HP:0012718	Abnormal gastrointestinal tract morphology	9723	SEMA3E	ORPHA:138
HP:0012718	Abnormal gastrointestinal tract morphology	1536	CYBB	ORPHA:379
HP:0012718	Abnormal gastrointestinal tract morphology	4688	NCF2	ORPHA:379
HP:0012718	Abnormal gastrointestinal tract morphology	1535	CYBA	ORPHA:379
HP:0012718	Abnormal gastrointestinal tract morphology	4689	NCF4	ORPHA:379
HP:0012718	Abnormal gastrointestinal tract morphology	79415	CYBC1	ORPHA:379
HP:0012718	Abnormal gastrointestinal tract morphology	7476	WNT7A	ORPHA:2879
HP:0012718	Abnormal gastrointestinal tract morphology	85459	CEP295	OMIM:620767
HP:0012718	Abnormal gastrointestinal tract morphology	672	BRCA1	ORPHA:84
HP:0012718	Abnormal gastrointestinal tract morphology	10459	MAD2L2	ORPHA:84
HP:0012718	Abnormal gastrointestinal tract morphology	7516	XRCC2	ORPHA:84
HP:0012718	Abnormal gastrointestinal tract morphology	29089	UBE2T	ORPHA:84
HP:0012718	Abnormal gastrointestinal tract morphology	675	BRCA2	ORPHA:84
HP:0012718	Abnormal gastrointestinal tract morphology	2175	FANCA	ORPHA:84
HP:0012718	Abnormal gastrointestinal tract morphology	2176	FANCC	ORPHA:84
HP:0012718	Abnormal gastrointestinal tract morphology	2178	FANCE	ORPHA:84
HP:0012718	Abnormal gastrointestinal tract morphology	2188	FANCF	ORPHA:84
HP:0012718	Abnormal gastrointestinal tract morphology	2189	FANCG	ORPHA:84
HP:0012718	Abnormal gastrointestinal tract morphology	5888	RAD51	ORPHA:84
HP:0012718	Abnormal gastrointestinal tract morphology	5889	RAD51C	ORPHA:84
HP:0012718	Abnormal gastrointestinal tract morphology	55159	RFWD3	ORPHA:84
HP:0012718	Abnormal gastrointestinal tract morphology	83990	BRIP1	ORPHA:84
HP:0012718	Abnormal gastrointestinal tract morphology	57697	FANCM	ORPHA:84
HP:0012718	Abnormal gastrointestinal tract morphology	79728	PALB2	ORPHA:84
HP:0012718	Abnormal gastrointestinal tract morphology	84464	SLX4	ORPHA:84
HP:0012718	Abnormal gastrointestinal tract morphology	55215	FANCI	ORPHA:84
HP:0012718	Abnormal gastrointestinal tract morphology	4281	MID1	ORPHA:2745
HP:0012718	Abnormal gastrointestinal tract morphology	2201	FBN2	ORPHA:115
HP:0012718	Abnormal gastrointestinal tract morphology	657	BMPR1A	OMIM:174900
HP:0012718	Abnormal gastrointestinal tract morphology	657	BMPR1A	ORPHA:157794
HP:0012718	Abnormal gastrointestinal tract morphology	657	BMPR1A	ORPHA:79076
HP:0012718	Abnormal gastrointestinal tract morphology	26585	GREM1	ORPHA:157794
HP:0012718	Abnormal gastrointestinal tract morphology	30008	EFEMP2	OMIM:614437
HP:0012718	Abnormal gastrointestinal tract morphology	412	STS	ORPHA:281090
HP:0012718	Abnormal gastrointestinal tract morphology	9203	ZMYM3	OMIM:301111
HP:0012718	Abnormal gastrointestinal tract morphology	129563	DIS3L2	OMIM:267000
HP:0012718	Abnormal gastrointestinal tract morphology	7010	TEK	ORPHA:1059
HP:0012718	Abnormal gastrointestinal tract morphology	738	VPS51	OMIM:618606
HP:0012718	Abnormal gastrointestinal tract morphology	55690	PACS1	OMIM:615009
HP:0012718	Abnormal gastrointestinal tract morphology	7407	VARS1	OMIM:617802
HP:0012718	Abnormal gastrointestinal tract morphology	546	ATRX	ORPHA:847
HP:0012718	Abnormal gastrointestinal tract morphology	2202	EFEMP1	OMIM:620780
HP:0012718	Abnormal gastrointestinal tract morphology	4790	NFKB1	OMIM:616576
HP:0012718	Abnormal gastrointestinal tract morphology	64135	IFIH1	OMIM:615846
HP:0012718	Abnormal gastrointestinal tract morphology	50619	DEF6	OMIM:619573
HP:0012718	Abnormal gastrointestinal tract morphology	9051	PSTPIP1	OMIM:604416
HP:0012718	Abnormal gastrointestinal tract morphology	4261	CIITA	OMIM:209920
HP:0012718	Abnormal gastrointestinal tract morphology	5551	PRF1	ORPHA:540
HP:0012718	Abnormal gastrointestinal tract morphology	8676	STX11	ORPHA:540
HP:0012718	Abnormal gastrointestinal tract morphology	201294	UNC13D	ORPHA:540
HP:0012718	Abnormal gastrointestinal tract morphology	6813	STXBP2	ORPHA:540
HP:0012718	Abnormal gastrointestinal tract morphology	6813	STXBP2	OMIM:613101
HP:0012718	Abnormal gastrointestinal tract morphology	23149	FCHO1	OMIM:619164
HP:0012718	Abnormal gastrointestinal tract morphology	60468	BACH2	OMIM:618394
HP:0012718	Abnormal gastrointestinal tract morphology	5699	PSMB10	OMIM:620807
HP:0012718	Abnormal gastrointestinal tract morphology	7535	ZAP70	OMIM:617006
HP:0012718	Abnormal gastrointestinal tract morphology	7535	ZAP70	ORPHA:911
HP:0012718	Abnormal gastrointestinal tract morphology	3587	IL10RA	OMIM:613148
HP:0012718	Abnormal gastrointestinal tract morphology	5294	PIK3CG	OMIM:619802
HP:0012718	Abnormal gastrointestinal tract morphology	81858	SHARPIN	OMIM:620795
HP:0012718	Abnormal gastrointestinal tract morphology	338328	GPIHBP1	OMIM:615947
HP:0012718	Abnormal gastrointestinal tract morphology	4067	LYN	OMIM:620376
HP:0012718	Abnormal gastrointestinal tract morphology	324	APC	ORPHA:261584
HP:0012718	Abnormal gastrointestinal tract morphology	64132	XYLT2	OMIM:605822
HP:0012718	Abnormal gastrointestinal tract morphology	6850	SYK	OMIM:619381
HP:0012718	Abnormal gastrointestinal tract morphology	1026	CDKN1A	ORPHA:652
HP:0012718	Abnormal gastrointestinal tract morphology	1031	CDKN2C	ORPHA:652
HP:0012718	Abnormal gastrointestinal tract morphology	5340	PLG	OMIM:217090
HP:0012718	Abnormal gastrointestinal tract morphology	5340	PLG	ORPHA:722
HP:0012718	Abnormal gastrointestinal tract morphology	4613	MYCN	OMIM:620748
HP:0012718	Abnormal gastrointestinal tract morphology	4613	MYCN	OMIM:164280
HP:0012718	Abnormal gastrointestinal tract morphology	4613	MYCN	ORPHA:391641
HP:0012718	Abnormal gastrointestinal tract morphology	57217	TTC7A	ORPHA:2300
HP:0012718	Abnormal gastrointestinal tract morphology	57217	TTC7A	ORPHA:436252
HP:0012718	Abnormal gastrointestinal tract morphology	5297	PI4KA	ORPHA:436252
HP:0012718	Abnormal gastrointestinal tract morphology	91574	MTRFR	ORPHA:254930
HP:0012718	Abnormal gastrointestinal tract morphology	91574	MTRFR	OMIM:613559
HP:0012718	Abnormal gastrointestinal tract morphology	2184	FAH	OMIM:276700
HP:0012718	Abnormal gastrointestinal tract morphology	7466	WFS1	ORPHA:3463
HP:0012718	Abnormal gastrointestinal tract morphology	9780	PIEZO1	OMIM:616843
HP:0012718	Abnormal gastrointestinal tract morphology	79633	FAT4	OMIM:616006
HP:0012718	Abnormal gastrointestinal tract morphology	55072	RNF31	OMIM:620632
HP:0012718	Abnormal gastrointestinal tract morphology	147372	CCBE1	OMIM:235510
HP:0012718	Abnormal gastrointestinal tract morphology	1080	CFTR	OMIM:219700
HP:0012718	Abnormal gastrointestinal tract morphology	2212	FCGR2A	OMIM:219700
HP:0012718	Abnormal gastrointestinal tract morphology	6535	SLC6A8	OMIM:300352
HP:0012718	Abnormal gastrointestinal tract morphology	6535	SLC6A8	ORPHA:52503
HP:0012718	Abnormal gastrointestinal tract morphology	2130	EWSR1	ORPHA:83469
HP:0012718	Abnormal gastrointestinal tract morphology	7490	WT1	ORPHA:83469
HP:0012718	Abnormal gastrointestinal tract morphology	284119	CAVIN1	OMIM:613327
HP:0012718	Abnormal gastrointestinal tract morphology	5498	PPOX	ORPHA:79473
HP:0012718	Abnormal gastrointestinal tract morphology	3145	HMBS	ORPHA:79276
HP:0012718	Abnormal gastrointestinal tract morphology	26153	KIF26A	OMIM:620156
HP:0012718	Abnormal gastrointestinal tract morphology	23314	SATB2	ORPHA:576283
HP:0012718	Abnormal gastrointestinal tract morphology	51322	WAC	ORPHA:284169
HP:0012718	Abnormal gastrointestinal tract morphology	92482	BBIP1	ORPHA:110
HP:0012718	Abnormal gastrointestinal tract morphology	80184	CEP290	ORPHA:110
HP:0012718	Abnormal gastrointestinal tract morphology	11020	IFT27	ORPHA:110
HP:0012718	Abnormal gastrointestinal tract morphology	582	BBS1	ORPHA:110
HP:0012718	Abnormal gastrointestinal tract morphology	49855	SCAPER	ORPHA:110
HP:0012718	Abnormal gastrointestinal tract morphology	4867	NPHP1	ORPHA:110
HP:0012718	Abnormal gastrointestinal tract morphology	51057	WDPCP	ORPHA:110
HP:0012718	Abnormal gastrointestinal tract morphology	132320	SCLT1	ORPHA:110
HP:0012718	Abnormal gastrointestinal tract morphology	27241	BBS9	ORPHA:110
HP:0012718	Abnormal gastrointestinal tract morphology	84984	CEP19	ORPHA:110
HP:0012718	Abnormal gastrointestinal tract morphology	22954	TRIM32	ORPHA:110
HP:0012718	Abnormal gastrointestinal tract morphology	79738	BBS10	ORPHA:110
HP:0012718	Abnormal gastrointestinal tract morphology	123016	TTC8	ORPHA:110
HP:0012718	Abnormal gastrointestinal tract morphology	26160	IFT172	ORPHA:110
HP:0012718	Abnormal gastrointestinal tract morphology	583	BBS2	ORPHA:110
HP:0012718	Abnormal gastrointestinal tract morphology	585	BBS4	ORPHA:110
HP:0012718	Abnormal gastrointestinal tract morphology	8195	MKKS	ORPHA:110
HP:0012718	Abnormal gastrointestinal tract morphology	54585	LZTFL1	ORPHA:110
HP:0012718	Abnormal gastrointestinal tract morphology	55212	BBS7	ORPHA:110
HP:0012718	Abnormal gastrointestinal tract morphology	166379	BBS12	ORPHA:110
HP:0012718	Abnormal gastrointestinal tract morphology	10806	SDCCAG8	ORPHA:110
HP:0012718	Abnormal gastrointestinal tract morphology	157657	CFAP418	ORPHA:110
HP:0012718	Abnormal gastrointestinal tract morphology	84100	ARL6	ORPHA:110
HP:0012718	Abnormal gastrointestinal tract morphology	129880	BBS5	ORPHA:110
HP:0012718	Abnormal gastrointestinal tract morphology	80173	IFT74	ORPHA:110
HP:0012718	Abnormal gastrointestinal tract morphology	51256	TBC1D7	OMIM:248000
HP:0012718	Abnormal gastrointestinal tract morphology	2859	GPR35	ORPHA:171
HP:0012718	Abnormal gastrointestinal tract morphology	10507	SEMA4D	ORPHA:171
HP:0012718	Abnormal gastrointestinal tract morphology	4485	MST1	ORPHA:171
HP:0012718	Abnormal gastrointestinal tract morphology	326	AIRE	OMIM:240300
HP:0012718	Abnormal gastrointestinal tract morphology	8651	SOCS1	OMIM:619375
HP:0012718	Abnormal gastrointestinal tract morphology	10625	IVNS1ABP	OMIM:618969
HP:0012718	Abnormal gastrointestinal tract morphology	6777	STAT5B	OMIM:618985
HP:0012718	Abnormal gastrointestinal tract morphology	3117	HLA-DQA1	OMIM:212750
HP:0012718	Abnormal gastrointestinal tract morphology	3119	HLA-DQB1	OMIM:212750
HP:0012718	Abnormal gastrointestinal tract morphology	10092	ARPC5	OMIM:620565
HP:0012718	Abnormal gastrointestinal tract morphology	3514	IGKC	ORPHA:183675
HP:0012718	Abnormal gastrointestinal tract morphology	3501	IGHG2	ORPHA:183675
HP:0012718	Abnormal gastrointestinal tract morphology	29110	TBK1	OMIM:620880
HP:0012718	Abnormal gastrointestinal tract morphology	10847	SRCAP	OMIM:136140
HP:0012718	Abnormal gastrointestinal tract morphology	10847	SRCAP	ORPHA:2044
HP:0012718	Abnormal gastrointestinal tract morphology	29998	BICRA	OMIM:619325
HP:0012718	Abnormal gastrointestinal tract morphology	4953	ODC1	ORPHA:544488
HP:0012718	Abnormal gastrointestinal tract morphology	51085	MLXIPL	OMIM:194050
HP:0012718	Abnormal gastrointestinal tract morphology	11146	GLMN	ORPHA:83454
HP:0012718	Abnormal gastrointestinal tract morphology	4763	NF1	OMIM:162200
HP:0012718	Abnormal gastrointestinal tract morphology	716	C1S	OMIM:617174
HP:0012718	Abnormal gastrointestinal tract morphology	8930	MBD4	OMIM:619975
HP:0012718	Abnormal gastrointestinal tract morphology	4092	SMAD7	OMIM:612229
HP:0012718	Abnormal gastrointestinal tract morphology	2304	FOXE1	ORPHA:319487
HP:0012718	Abnormal gastrointestinal tract morphology	3026	HABP2	ORPHA:319487
HP:0012718	Abnormal gastrointestinal tract morphology	9562	MINPP1	ORPHA:319487
HP:0012718	Abnormal gastrointestinal tract morphology	1244	ABCC2	ORPHA:234
HP:0012718	Abnormal gastrointestinal tract morphology	3930	LBR	ORPHA:779
HP:0012718	Abnormal gastrointestinal tract morphology	9839	ZEB2	OMIM:235730
HP:0012718	Abnormal gastrointestinal tract morphology	26873	OPLAH	OMIM:260005
HP:0012718	Abnormal gastrointestinal tract morphology	5336	PLCG2	OMIM:614878
HP:0012718	Abnormal gastrointestinal tract morphology	1991	ELANE	ORPHA:2686
HP:0012718	Abnormal gastrointestinal tract morphology	2984	GUCY2C	OMIM:614665
HP:0012718	Abnormal gastrointestinal tract morphology	10269	ZMPSTE24	ORPHA:1662
HP:0012718	Abnormal gastrointestinal tract morphology	3190	HNRNPK	ORPHA:453504
HP:0012718	Abnormal gastrointestinal tract morphology	3190	HNRNPK	ORPHA:352665
HP:0012718	Abnormal gastrointestinal tract morphology	4558	MT-TF	ORPHA:550
HP:0012718	Abnormal gastrointestinal tract morphology	4572	MT-TQ	ORPHA:550
HP:0012718	Abnormal gastrointestinal tract morphology	4512	MT-CO1	ORPHA:550
HP:0012718	Abnormal gastrointestinal tract morphology	4513	MT-CO2	ORPHA:550
HP:0012718	Abnormal gastrointestinal tract morphology	4514	MT-CO3	ORPHA:550
HP:0012718	Abnormal gastrointestinal tract morphology	4578	MT-TW	ORPHA:550
HP:0012718	Abnormal gastrointestinal tract morphology	4540	MT-ND5	ORPHA:550
HP:0012718	Abnormal gastrointestinal tract morphology	4541	MT-ND6	ORPHA:550
HP:0012718	Abnormal gastrointestinal tract morphology	4535	MT-ND1	ORPHA:550
HP:0012718	Abnormal gastrointestinal tract morphology	4538	MT-ND4	ORPHA:550
HP:0012718	Abnormal gastrointestinal tract morphology	4567	MT-TL1	ORPHA:550
HP:0012718	Abnormal gastrointestinal tract morphology	4574	MT-TS1	ORPHA:550
HP:0012718	Abnormal gastrointestinal tract morphology	4575	MT-TS2	ORPHA:550
HP:0012718	Abnormal gastrointestinal tract morphology	4564	MT-TH	ORPHA:550
HP:0012718	Abnormal gastrointestinal tract morphology	56652	TWNK	OMIM:607459
HP:0012718	Abnormal gastrointestinal tract morphology	56652	TWNK	ORPHA:70595
HP:0012718	Abnormal gastrointestinal tract morphology	5428	POLG	OMIM:607459
HP:0012718	Abnormal gastrointestinal tract morphology	5428	POLG	OMIM:613662
HP:0012718	Abnormal gastrointestinal tract morphology	5428	POLG	OMIM:603041
HP:0012718	Abnormal gastrointestinal tract morphology	5428	POLG	ORPHA:70595
HP:0012718	Abnormal gastrointestinal tract morphology	151648	SGO1	OMIM:616201
HP:0012718	Abnormal gastrointestinal tract morphology	3423	IDS	OMIM:309900
HP:0012718	Abnormal gastrointestinal tract morphology	3980	LIG3	OMIM:619780
HP:0012718	Abnormal gastrointestinal tract morphology	285282	RABL3	ORPHA:1333
HP:0012718	Abnormal gastrointestinal tract morphology	7157	TP53	ORPHA:1333
HP:0012718	Abnormal gastrointestinal tract morphology	3845	KRAS	ORPHA:1333
HP:0012718	Abnormal gastrointestinal tract morphology	1029	CDKN2A	ORPHA:1333
HP:0012718	Abnormal gastrointestinal tract morphology	23022	PALLD	ORPHA:1333
HP:0012718	Abnormal gastrointestinal tract morphology	1890	TYMP	OMIM:603041
HP:0012718	Abnormal gastrointestinal tract morphology	10483	SEC23B	ORPHA:201
HP:0012718	Abnormal gastrointestinal tract morphology	205717	USF3	ORPHA:201
HP:0012718	Abnormal gastrointestinal tract morphology	100144748	KLLN	ORPHA:201
HP:0012718	Abnormal gastrointestinal tract morphology	11277	TREX1	OMIM:225750
HP:0012718	Abnormal gastrointestinal tract morphology	4437	MSH3	ORPHA:480536
HP:0012718	Abnormal gastrointestinal tract morphology	79577	CDC73	ORPHA:143
HP:0012718	Abnormal gastrointestinal tract morphology	79577	CDC73	ORPHA:99880
HP:0012718	Abnormal gastrointestinal tract morphology	1175	AP2S1	OMIM:600740
HP:0012718	Abnormal gastrointestinal tract morphology	493856	CISD2	OMIM:604928
HP:0012718	Abnormal gastrointestinal tract morphology	2767	GNA11	OMIM:145981
HP:0012718	Abnormal gastrointestinal tract morphology	54790	TET2	ORPHA:98849
HP:0012718	Abnormal gastrointestinal tract morphology	6427	SRSF2	ORPHA:98849
HP:0012718	Abnormal gastrointestinal tract morphology	3248	HPGD	ORPHA:2796
HP:0012718	Abnormal gastrointestinal tract morphology	6578	SLCO2A1	ORPHA:2796
HP:0012718	Abnormal gastrointestinal tract morphology	7020	TFAP2A	OMIM:113620
HP:0012718	Abnormal gastrointestinal tract morphology	2317	FLNB	ORPHA:1190
HP:0012718	Abnormal gastrointestinal tract morphology	51008	ASCC1	OMIM:614266
HP:0012718	Abnormal gastrointestinal tract morphology	115908	CTHRC1	OMIM:614266
HP:0012718	Abnormal gastrointestinal tract morphology	4481	MSR1	OMIM:614266
HP:0012718	Abnormal gastrointestinal tract morphology	4312	MMP1	ORPHA:79408
HP:0012718	Abnormal gastrointestinal tract morphology	5321	PLA2G4A	OMIM:618372
HP:0012718	Abnormal gastrointestinal tract morphology	1024	CDK8	OMIM:618748
HP:0012718	Abnormal gastrointestinal tract morphology	29940	DSE	ORPHA:2953
HP:0012718	Abnormal gastrointestinal tract morphology	23522	KAT6B	OMIM:606170
HP:0012718	Abnormal gastrointestinal tract morphology	54361	WNT4	ORPHA:139466
HP:0012718	Abnormal gastrointestinal tract morphology	7468	NSD2	OMIM:194190
HP:0012718	Abnormal gastrointestinal tract morphology	10815	CPLX1	OMIM:194190
HP:0012718	Abnormal gastrointestinal tract morphology	1487	CTBP1	OMIM:194190
HP:0012718	Abnormal gastrointestinal tract morphology	53834	FGFRL1	OMIM:194190
HP:0012718	Abnormal gastrointestinal tract morphology	3954	LETM1	OMIM:194190
HP:0012718	Abnormal gastrointestinal tract morphology	1723	DHODH	OMIM:263750
HP:0012718	Abnormal gastrointestinal tract morphology	1499	CTNNB1	ORPHA:873
HP:0012718	Abnormal gastrointestinal tract morphology	6392	SDHD	ORPHA:97286
HP:0012718	Abnormal gastrointestinal tract morphology	1493	CTLA4	ORPHA:900
HP:0012718	Abnormal gastrointestinal tract morphology	26191	PTPN22	ORPHA:900
HP:0012718	Abnormal gastrointestinal tract morphology	3115	HLA-DPB1	ORPHA:900
HP:0012718	Abnormal gastrointestinal tract morphology	5657	PRTN3	ORPHA:900
HP:0012718	Abnormal gastrointestinal tract morphology	3113	HLA-DPA1	ORPHA:900
HP:0012718	Abnormal gastrointestinal tract morphology	4598	MVK	ORPHA:343
HP:0012718	Abnormal gastrointestinal tract morphology	2131	EXT1	ORPHA:321
HP:0012718	Abnormal gastrointestinal tract morphology	4210	MEFV	ORPHA:342
HP:0012718	Abnormal gastrointestinal tract morphology	4609	MYC	ORPHA:543
HP:0012718	Abnormal gastrointestinal tract morphology	215	ABCD1	ORPHA:388
HP:0012718	Abnormal gastrointestinal tract morphology	2668	GDNF	ORPHA:388
HP:0012718	Abnormal gastrointestinal tract morphology	1889	ECE1	ORPHA:388
HP:0012718	Abnormal gastrointestinal tract morphology	6720	SREBF1	ORPHA:388
HP:0012718	Abnormal gastrointestinal tract morphology	223117	SEMA3D	ORPHA:388
HP:0012718	Abnormal gastrointestinal tract morphology	10512	SEMA3C	ORPHA:388
HP:0012718	Abnormal gastrointestinal tract morphology	2064	ERBB2	ORPHA:388
HP:0012718	Abnormal gastrointestinal tract morphology	4902	NRTN	ORPHA:388
HP:0012718	Abnormal gastrointestinal tract morphology	2068	ERCC2	OMIM:601675
HP:0012718	Abnormal gastrointestinal tract morphology	3718	JAK3	OMIM:600802
HP:0012718	Abnormal gastrointestinal tract morphology	64127	NOD2	OMIM:266600
HP:0012718	Abnormal gastrointestinal tract morphology	3569	IL6	OMIM:266600
HP:0012718	Abnormal gastrointestinal tract morphology	6905	TBCE	ORPHA:2323
HP:0012718	Abnormal gastrointestinal tract morphology	7132	TNFRSF1A	ORPHA:32960
HP:0012718	Abnormal gastrointestinal tract morphology	5317	PKP1	ORPHA:158668
HP:0012718	Abnormal gastrointestinal tract morphology	2694	CBLIF	OMIM:261000
HP:0012718	Abnormal gastrointestinal tract morphology	1289	COL5A1	OMIM:130000
HP:0012718	Abnormal gastrointestinal tract morphology	81839	VANGL1	OMIM:600145
HP:0012718	Abnormal gastrointestinal tract morphology	3507	IGHM	OMIM:601495
HP:0012718	Abnormal gastrointestinal tract morphology	3689	ITGB2	OMIM:116920
HP:0012718	Abnormal gastrointestinal tract morphology	5880	RAC2	OMIM:608203
HP:0012718	Abnormal gastrointestinal tract morphology	710	SERPING1	ORPHA:100050
HP:0012718	Abnormal gastrointestinal tract morphology	710	SERPING1	OMIM:106100
HP:0012718	Abnormal gastrointestinal tract morphology	2161	F12	OMIM:610618
HP:0012718	Abnormal gastrointestinal tract morphology	331	XIAP	ORPHA:538934
HP:0012718	Abnormal gastrointestinal tract morphology	4659	PPP1R12A	OMIM:618820
HP:0012718	Abnormal gastrointestinal tract morphology	407975	MIR17HG	ORPHA:391646
HP:0012718	Abnormal gastrointestinal tract morphology	8604	SLC25A12	OMIM:612949
HP:0012718	Abnormal gastrointestinal tract morphology	55605	KIF21A	ORPHA:994
HP:0012718	Abnormal gastrointestinal tract morphology	4927	NUP88	ORPHA:994
HP:0012718	Abnormal gastrointestinal tract morphology	7846	TUBA1A	ORPHA:994
HP:0012718	Abnormal gastrointestinal tract morphology	4654	MYOD1	ORPHA:994
HP:0012718	Abnormal gastrointestinal tract morphology	54551	MAGEL2	ORPHA:994
HP:0012718	Abnormal gastrointestinal tract morphology	4593	MUSK	ORPHA:994
HP:0012718	Abnormal gastrointestinal tract morphology	5913	RAPSN	ORPHA:994
HP:0012718	Abnormal gastrointestinal tract morphology	6572	SLC18A3	ORPHA:994
HP:0012718	Abnormal gastrointestinal tract morphology	285489	DOK7	ORPHA:994
HP:0012718	Abnormal gastrointestinal tract morphology	9652	SKIC3	ORPHA:84064
HP:0012718	Abnormal gastrointestinal tract morphology	6499	SKIC2	ORPHA:84064
HP:0012718	Abnormal gastrointestinal tract morphology	355	FAS	ORPHA:3261
HP:0012718	Abnormal gastrointestinal tract morphology	356	FASLG	ORPHA:3261
HP:0012718	Abnormal gastrointestinal tract morphology	843	CASP10	ORPHA:3261
HP:0012718	Abnormal gastrointestinal tract morphology	2475	MTOR	ORPHA:457485
HP:0012718	Abnormal gastrointestinal tract morphology	83550	GPR101	ORPHA:963
HP:0012718	Abnormal gastrointestinal tract morphology	9049	AIP	ORPHA:963
HP:0012718	Abnormal gastrointestinal tract morphology	4072	EPCAM	ORPHA:144
HP:0012718	Abnormal gastrointestinal tract morphology	4292	MLH1	ORPHA:144
HP:0012718	Abnormal gastrointestinal tract morphology	5395	PMS2	ORPHA:144
HP:0012718	Abnormal gastrointestinal tract morphology	7048	TGFBR2	ORPHA:144
HP:0012718	Abnormal gastrointestinal tract morphology	5290	PIK3CA	ORPHA:144
HP:0012718	Abnormal gastrointestinal tract morphology	5290	PIK3CA	OMIM:114500
HP:0012718	Abnormal gastrointestinal tract morphology	2956	MSH6	ORPHA:144
HP:0012718	Abnormal gastrointestinal tract morphology	5378	PMS1	ORPHA:144
HP:0012718	Abnormal gastrointestinal tract morphology	4436	MSH2	ORPHA:144
HP:0012718	Abnormal gastrointestinal tract morphology	699	BUB1	OMIM:114500
HP:0012718	Abnormal gastrointestinal tract morphology	581	BAX	OMIM:114500
HP:0012718	Abnormal gastrointestinal tract morphology	25788	RAD54B	OMIM:114500
HP:0012718	Abnormal gastrointestinal tract morphology	5795	PTPRJ	OMIM:114500
HP:0012718	Abnormal gastrointestinal tract morphology	5157	PDGFRL	OMIM:114500
HP:0012718	Abnormal gastrointestinal tract morphology	1630	DCC	OMIM:114500
HP:0012718	Abnormal gastrointestinal tract morphology	207	AKT1	OMIM:114500
HP:0012718	Abnormal gastrointestinal tract morphology	10395	DLC1	OMIM:114500
HP:0012718	Abnormal gastrointestinal tract morphology	8313	AXIN2	OMIM:114500
HP:0012718	Abnormal gastrointestinal tract morphology	4163	MCC	OMIM:114500
HP:0012718	Abnormal gastrointestinal tract morphology	2261	FGFR3	OMIM:114500
HP:0012718	Abnormal gastrointestinal tract morphology	201163	FLCN	OMIM:114500
HP:0012718	Abnormal gastrointestinal tract morphology	595	CCND1	OMIM:114500
HP:0012718	Abnormal gastrointestinal tract morphology	7097	TLR2	OMIM:114500
HP:0012718	Abnormal gastrointestinal tract morphology	6714	SRC	OMIM:114500
HP:0012718	Abnormal gastrointestinal tract morphology	27030	MLH3	OMIM:114500
HP:0012718	Abnormal gastrointestinal tract morphology	5320	PLA2G2A	OMIM:114500
HP:0012718	Abnormal gastrointestinal tract morphology	6790	AURKA	OMIM:114500
HP:0012718	Abnormal gastrointestinal tract morphology	4893	NRAS	OMIM:114500
HP:0012718	Abnormal gastrointestinal tract morphology	701	BUB1B	OMIM:114500
HP:0012718	Abnormal gastrointestinal tract morphology	5782	PTPN12	OMIM:114500
HP:0012718	Abnormal gastrointestinal tract morphology	8314	BAP1	ORPHA:618
HP:0012718	Abnormal gastrointestinal tract morphology	1019	CDK4	ORPHA:618
HP:0012718	Abnormal gastrointestinal tract morphology	4255	MGMT	ORPHA:618
HP:0012718	Abnormal gastrointestinal tract morphology	54386	TERF2IP	ORPHA:618
HP:0012718	Abnormal gastrointestinal tract morphology	4157	MC1R	ORPHA:618
HP:0012718	Abnormal gastrointestinal tract morphology	1030	CDKN2B	ORPHA:618
HP:0012718	Abnormal gastrointestinal tract morphology	29926	GMPPA	OMIM:615510
HP:0012718	Abnormal gastrointestinal tract morphology	3655	ITGA6	OMIM:619817
HP:0012718	Abnormal gastrointestinal tract morphology	55612	FERMT1	OMIM:173650
HP:0012718	Abnormal gastrointestinal tract morphology	65057	ACD	OMIM:616553
HP:0012718	Abnormal gastrointestinal tract morphology	25942	SIN3A	ORPHA:94065
HP:0012718	Abnormal gastrointestinal tract morphology	374879	ZNF699	OMIM:619488
HP:0012718	Abnormal gastrointestinal tract morphology	6651	SON	OMIM:617140
HP:0012718	Abnormal gastrointestinal tract morphology	11005	SPINK5	OMIM:256500
HP:0012718	Abnormal gastrointestinal tract morphology	29925	GMPPB	OMIM:615351
HP:0012718	Abnormal gastrointestinal tract morphology	6049	RNF6	ORPHA:99977
HP:0012718	Abnormal gastrointestinal tract morphology	6049	RNF6	OMIM:133239
HP:0012718	Abnormal gastrointestinal tract morphology	51741	WWOX	ORPHA:99977
HP:0012718	Abnormal gastrointestinal tract morphology	51741	WWOX	OMIM:133239
HP:0012718	Abnormal gastrointestinal tract morphology	9940	DLEC1	ORPHA:99977
HP:0012718	Abnormal gastrointestinal tract morphology	11178	LZTS1	OMIM:133239
HP:0012718	Abnormal gastrointestinal tract morphology	6809	STX3	ORPHA:2290
HP:0012718	Abnormal gastrointestinal tract morphology	5122	PCSK1	OMIM:600955
HP:0012718	Abnormal gastrointestinal tract morphology	10043	TOM1	OMIM:619510
HP:0012718	Abnormal gastrointestinal tract morphology	7482	WNT2B	OMIM:618168
HP:0012718	Abnormal gastrointestinal tract morphology	79796	ALG9	OMIM:608776
HP:0012718	Abnormal gastrointestinal tract morphology	79796	ALG9	ORPHA:79328
HP:0012718	Abnormal gastrointestinal tract morphology	10195	ALG3	OMIM:601110
HP:0012718	Abnormal gastrointestinal tract morphology	58484	NLRC4	OMIM:616050
HP:0012718	Abnormal gastrointestinal tract morphology	3559	IL2RA	OMIM:606367
HP:0012718	Abnormal gastrointestinal tract morphology	5373	PMM2	OMIM:212065
HP:0012718	Abnormal gastrointestinal tract morphology	999	CDH1	OMIM:137215
HP:0012718	Abnormal gastrointestinal tract morphology	64218	SEMA4A	ORPHA:440437
HP:0012718	Abnormal gastrointestinal tract morphology	472	ATM	ORPHA:440437
HP:0012718	Abnormal gastrointestinal tract morphology	5426	POLE	ORPHA:440437
HP:0012718	Abnormal gastrointestinal tract morphology	6224	RPS20	ORPHA:440437
HP:0012718	Abnormal gastrointestinal tract morphology	4595	MUTYH	ORPHA:440437
HP:0012718	Abnormal gastrointestinal tract morphology	4595	MUTYH	OMIM:613659
HP:0012718	Abnormal gastrointestinal tract morphology	5424	POLD1	ORPHA:440437
HP:0012718	Abnormal gastrointestinal tract morphology	11200	CHEK2	ORPHA:440437
HP:0012718	Abnormal gastrointestinal tract morphology	11200	CHEK2	ORPHA:524
HP:0012718	Abnormal gastrointestinal tract morphology	11200	CHEK2	OMIM:609265
HP:0012718	Abnormal gastrointestinal tract morphology	3553	IL1B	OMIM:613659
HP:0012718	Abnormal gastrointestinal tract morphology	3557	IL1RN	OMIM:613659
HP:0012718	Abnormal gastrointestinal tract morphology	1316	KLF6	OMIM:613659
HP:0012718	Abnormal gastrointestinal tract morphology	4193	MDM2	ORPHA:524
HP:0012718	Abnormal gastrointestinal tract morphology	51604	PIGT	ORPHA:369837
HP:0012718	Abnormal gastrointestinal tract morphology	2260	FGFR1	ORPHA:220386
HP:0012718	Abnormal gastrointestinal tract morphology	2260	FGFR1	ORPHA:93924
HP:0012718	Abnormal gastrointestinal tract morphology	28514	DLL1	ORPHA:220386
HP:0012718	Abnormal gastrointestinal tract morphology	28514	DLL1	ORPHA:93926
HP:0012718	Abnormal gastrointestinal tract morphology	28514	DLL1	ORPHA:93924
HP:0012718	Abnormal gastrointestinal tract morphology	28514	DLL1	ORPHA:93925
HP:0012718	Abnormal gastrointestinal tract morphology	10735	STAG2	ORPHA:220386
HP:0012718	Abnormal gastrointestinal tract morphology	10735	STAG2	ORPHA:93925
HP:0012718	Abnormal gastrointestinal tract morphology	2253	FGF8	ORPHA:220386
HP:0012718	Abnormal gastrointestinal tract morphology	2253	FGF8	ORPHA:93926
HP:0012718	Abnormal gastrointestinal tract morphology	2253	FGF8	ORPHA:93924
HP:0012718	Abnormal gastrointestinal tract morphology	2253	FGF8	ORPHA:93925
HP:0012718	Abnormal gastrointestinal tract morphology	8243	SMC1A	ORPHA:220386
HP:0012718	Abnormal gastrointestinal tract morphology	6496	SIX3	ORPHA:220386
HP:0012718	Abnormal gastrointestinal tract morphology	6496	SIX3	ORPHA:93926
HP:0012718	Abnormal gastrointestinal tract morphology	6496	SIX3	ORPHA:93924
HP:0012718	Abnormal gastrointestinal tract morphology	6496	SIX3	ORPHA:93925
HP:0012718	Abnormal gastrointestinal tract morphology	7050	TGIF1	ORPHA:220386
HP:0012718	Abnormal gastrointestinal tract morphology	7050	TGIF1	ORPHA:93926
HP:0012718	Abnormal gastrointestinal tract morphology	7050	TGIF1	ORPHA:93924
HP:0012718	Abnormal gastrointestinal tract morphology	7050	TGIF1	ORPHA:93925
HP:0012718	Abnormal gastrointestinal tract morphology	4838	NODAL	ORPHA:220386
HP:0012718	Abnormal gastrointestinal tract morphology	4838	NODAL	ORPHA:93926
HP:0012718	Abnormal gastrointestinal tract morphology	4838	NODAL	ORPHA:93924
HP:0012718	Abnormal gastrointestinal tract morphology	4838	NODAL	ORPHA:93925
HP:0012718	Abnormal gastrointestinal tract morphology	6469	SHH	ORPHA:220386
HP:0012718	Abnormal gastrointestinal tract morphology	6469	SHH	ORPHA:93926
HP:0012718	Abnormal gastrointestinal tract morphology	6469	SHH	ORPHA:93924
HP:0012718	Abnormal gastrointestinal tract morphology	6469	SHH	ORPHA:93925
HP:0012718	Abnormal gastrointestinal tract morphology	7546	ZIC2	ORPHA:220386
HP:0012718	Abnormal gastrointestinal tract morphology	7546	ZIC2	ORPHA:93926
HP:0012718	Abnormal gastrointestinal tract morphology	7546	ZIC2	ORPHA:93924
HP:0012718	Abnormal gastrointestinal tract morphology	7546	ZIC2	ORPHA:93925
HP:0012718	Abnormal gastrointestinal tract morphology	6491	STIL	ORPHA:220386
HP:0012718	Abnormal gastrointestinal tract morphology	6491	STIL	ORPHA:93926
HP:0012718	Abnormal gastrointestinal tract morphology	6491	STIL	ORPHA:93924
HP:0012718	Abnormal gastrointestinal tract morphology	6491	STIL	ORPHA:93925
HP:0012718	Abnormal gastrointestinal tract morphology	2619	GAS1	ORPHA:220386
HP:0012718	Abnormal gastrointestinal tract morphology	2619	GAS1	ORPHA:93926
HP:0012718	Abnormal gastrointestinal tract morphology	2619	GAS1	ORPHA:93924
HP:0012718	Abnormal gastrointestinal tract morphology	2619	GAS1	ORPHA:93925
HP:0012718	Abnormal gastrointestinal tract morphology	84976	DISP1	ORPHA:220386
HP:0012718	Abnormal gastrointestinal tract morphology	84976	DISP1	ORPHA:93926
HP:0012718	Abnormal gastrointestinal tract morphology	84976	DISP1	ORPHA:93924
HP:0012718	Abnormal gastrointestinal tract morphology	84976	DISP1	ORPHA:93925
HP:0012718	Abnormal gastrointestinal tract morphology	2736	GLI2	ORPHA:220386
HP:0012718	Abnormal gastrointestinal tract morphology	2736	GLI2	ORPHA:93926
HP:0012718	Abnormal gastrointestinal tract morphology	2736	GLI2	ORPHA:93924
HP:0012718	Abnormal gastrointestinal tract morphology	2736	GLI2	ORPHA:93925
HP:0012718	Abnormal gastrointestinal tract morphology	8928	FOXH1	ORPHA:220386
HP:0012718	Abnormal gastrointestinal tract morphology	8928	FOXH1	ORPHA:93926
HP:0012718	Abnormal gastrointestinal tract morphology	8928	FOXH1	ORPHA:93924
HP:0012718	Abnormal gastrointestinal tract morphology	8928	FOXH1	ORPHA:93925
HP:0012718	Abnormal gastrointestinal tract morphology	6997	CRIPTO	ORPHA:220386
HP:0012718	Abnormal gastrointestinal tract morphology	6997	CRIPTO	ORPHA:93926
HP:0012718	Abnormal gastrointestinal tract morphology	6997	CRIPTO	ORPHA:93924
HP:0012718	Abnormal gastrointestinal tract morphology	6997	CRIPTO	ORPHA:93925
HP:0012718	Abnormal gastrointestinal tract morphology	5727	PTCH1	ORPHA:220386
HP:0012718	Abnormal gastrointestinal tract morphology	5727	PTCH1	ORPHA:93926
HP:0012718	Abnormal gastrointestinal tract morphology	5727	PTCH1	ORPHA:93924
HP:0012718	Abnormal gastrointestinal tract morphology	5727	PTCH1	ORPHA:93925
HP:0012718	Abnormal gastrointestinal tract morphology	50937	CDON	ORPHA:220386
HP:0012718	Abnormal gastrointestinal tract morphology	50937	CDON	ORPHA:93926
HP:0012718	Abnormal gastrointestinal tract morphology	50937	CDON	ORPHA:93924
HP:0012718	Abnormal gastrointestinal tract morphology	50937	CDON	ORPHA:93925
HP:0012718	Abnormal gastrointestinal tract morphology	4010	LMX1B	ORPHA:2614
HP:0012718	Abnormal gastrointestinal tract morphology	23007	PLCH1	ORPHA:93925
HP:0012718	Abnormal gastrointestinal tract morphology	4621	MYH3	ORPHA:2990
HP:0012718	Abnormal gastrointestinal tract morphology	1146	CHRNG	ORPHA:2990
HP:0012718	Abnormal gastrointestinal tract morphology	1288	COL4A6	ORPHA:1018
HP:0012718	Abnormal gastrointestinal tract morphology	1287	COL4A5	ORPHA:1018
HP:0012718	Abnormal gastrointestinal tract morphology	55209	SETD5	ORPHA:404440
HP:0012718	Abnormal gastrointestinal tract morphology	57167	SALL4	ORPHA:233
HP:0012718	Abnormal gastrointestinal tract morphology	9935	MAFB	ORPHA:233
HP:0012718	Abnormal gastrointestinal tract morphology	1123	CHN1	ORPHA:233
HP:0012718	Abnormal gastrointestinal tract morphology	341640	FREM2	ORPHA:2052
HP:0012718	Abnormal gastrointestinal tract morphology	80144	FRAS1	ORPHA:2052
HP:0012718	Abnormal gastrointestinal tract morphology	23426	GRIP1	ORPHA:2052
HP:0012718	Abnormal gastrointestinal tract morphology	80169	CTC1	ORPHA:1775
HP:0012718	Abnormal gastrointestinal tract morphology	26277	TINF2	ORPHA:1775
HP:0012718	Abnormal gastrointestinal tract morphology	55651	NHP2	ORPHA:1775
HP:0012718	Abnormal gastrointestinal tract morphology	79650	USB1	ORPHA:1775
HP:0012718	Abnormal gastrointestinal tract morphology	55135	WRAP53	ORPHA:1775
HP:0012718	Abnormal gastrointestinal tract morphology	51750	RTEL1	ORPHA:1775
HP:0012718	Abnormal gastrointestinal tract morphology	4869	NPM1	ORPHA:1775
HP:0012718	Abnormal gastrointestinal tract morphology	7012	TERC	ORPHA:1775
HP:0012718	Abnormal gastrointestinal tract morphology	55505	NOP10	ORPHA:1775
HP:0012718	Abnormal gastrointestinal tract morphology	5073	PARN	ORPHA:1775
HP:0012718	Abnormal gastrointestinal tract morphology	7015	TERT	ORPHA:1775
HP:0012718	Abnormal gastrointestinal tract morphology	1736	DKC1	ORPHA:1775
HP:0012718	Abnormal gastrointestinal tract morphology	7298	TYMS	ORPHA:1775
HP:0012718	Abnormal gastrointestinal tract morphology	8085	KMT2D	ORPHA:2322
HP:0012718	Abnormal gastrointestinal tract morphology	7403	KDM6A	ORPHA:2322
HP:0012718	Abnormal gastrointestinal tract morphology	4683	NBN	ORPHA:647
HP:0012718	Abnormal gastrointestinal tract morphology	1312	COMT	ORPHA:567
HP:0012718	Abnormal gastrointestinal tract morphology	221037	JMJD1C	ORPHA:567
HP:0012718	Abnormal gastrointestinal tract morphology	2812	GP1BB	ORPHA:567
HP:0012718	Abnormal gastrointestinal tract morphology	6239	RREB1	ORPHA:567
HP:0012718	Abnormal gastrointestinal tract morphology	6899	TBX1	ORPHA:567
HP:0012718	Abnormal gastrointestinal tract morphology	7290	HIRA	ORPHA:567
HP:0012718	Abnormal gastrointestinal tract morphology	9632	SEC24C	ORPHA:567
HP:0012718	Abnormal gastrointestinal tract morphology	7353	UFD1	ORPHA:567
HP:0012718	Abnormal gastrointestinal tract morphology	421	ARVCF	ORPHA:567
HP:0012718	Abnormal gastrointestinal tract morphology	3239	HOXD13	ORPHA:887
HP:0012718	Abnormal gastrointestinal tract morphology	26123	TCTN3	ORPHA:2753
HP:0012718	Abnormal gastrointestinal tract morphology	55593	OTUD5	OMIM:301056
HP:0012718	Abnormal gastrointestinal tract morphology	7276	TTR	ORPHA:85451
HP:0012718	Abnormal gastrointestinal tract morphology	105371045	PERCC1	ORPHA:92050
HP:0012718	Abnormal gastrointestinal tract morphology	3938	LCT	OMIM:223000
HP:0012718	Abnormal gastrointestinal tract morphology	4175	MCM6	OMIM:223100
HP:0012718	Abnormal gastrointestinal tract morphology	50484	RRM2B	ORPHA:298
HP:0012718	Abnormal gastrointestinal tract morphology	5265	SERPINA1	OMIM:613490
HP:0012718	Abnormal gastrointestinal tract morphology	715	C1R	OMIM:130080
HP:0012718	Abnormal gastrointestinal tract morphology	567	B2M	ORPHA:314652
HP:0012718	Abnormal gastrointestinal tract morphology	84433	CARD11	OMIM:617638
HP:0012718	Abnormal gastrointestinal tract morphology	3716	JAK1	OMIM:618999
HP:0012718	Abnormal gastrointestinal tract morphology	10095	ARPC1B	OMIM:617718
HP:0012718	Abnormal gastrointestinal tract morphology	7128	TNFAIP3	OMIM:616744
HP:0012718	Abnormal gastrointestinal tract morphology	6550	SLC9A3	OMIM:616868
HP:0012718	Abnormal gastrointestinal tract morphology	6778	STAT6	OMIM:620532
HP:0012718	Abnormal gastrointestinal tract morphology	220296	HEPACAM	ORPHA:210548
HP:0012718	Abnormal gastrointestinal tract morphology	139818	DOCK11	OMIM:301109
HP:0012718	Abnormal gastrointestinal tract morphology	5970	RELA	OMIM:618287
HP:0012718	Abnormal gastrointestinal tract morphology	6868	ADAM17	OMIM:614328
HP:0012718	Abnormal gastrointestinal tract morphology	6730	SRP68	OMIM:620534
HP:0012718	Abnormal gastrointestinal tract morphology	8547	FCN3	OMIM:613860
HP:0012718	Abnormal gastrointestinal tract morphology	37	ACADVL	OMIM:201475
HP:0012718	Abnormal gastrointestinal tract morphology	3588	IL10RB	OMIM:612567
HP:0012718	Abnormal gastrointestinal tract morphology	55898	UNC45A	OMIM:619377
HP:0012718	Abnormal gastrointestinal tract morphology	51128	SAR1B	OMIM:246700
HP:0012718	Abnormal gastrointestinal tract morphology	6138	RPL15	ORPHA:124
HP:0012718	Abnormal gastrointestinal tract morphology	6165	RPL35A	ORPHA:124
HP:0012718	Abnormal gastrointestinal tract morphology	6132	RPL8	ORPHA:124
HP:0012718	Abnormal gastrointestinal tract morphology	6223	RPS19	ORPHA:124
HP:0012718	Abnormal gastrointestinal tract morphology	6232	RPS27	ORPHA:124
HP:0012718	Abnormal gastrointestinal tract morphology	55027	HEATR3	ORPHA:124
HP:0012718	Abnormal gastrointestinal tract morphology	6160	RPL31	ORPHA:124
HP:0012718	Abnormal gastrointestinal tract morphology	6201	RPS7	ORPHA:124
HP:0012718	Abnormal gastrointestinal tract morphology	6155	RPL27	ORPHA:124
HP:0012718	Abnormal gastrointestinal tract morphology	6234	RPS28	ORPHA:124
HP:0012718	Abnormal gastrointestinal tract morphology	6229	RPS24	ORPHA:124
HP:0012718	Abnormal gastrointestinal tract morphology	6125	RPL5	ORPHA:124
HP:0012718	Abnormal gastrointestinal tract morphology	6204	RPS10	ORPHA:124
HP:0012718	Abnormal gastrointestinal tract morphology	2623	GATA1	ORPHA:124
HP:0012718	Abnormal gastrointestinal tract morphology	6133	RPL9	ORPHA:124
HP:0012718	Abnormal gastrointestinal tract morphology	6231	RPS26	ORPHA:124
HP:0012718	Abnormal gastrointestinal tract morphology	11224	RPL35	ORPHA:124
HP:0012718	Abnormal gastrointestinal tract morphology	6218	RPS17	ORPHA:124
HP:0012718	Abnormal gastrointestinal tract morphology	6154	RPL26	ORPHA:124
HP:0012718	Abnormal gastrointestinal tract morphology	6210	RPS15A	ORPHA:124
HP:0012718	Abnormal gastrointestinal tract morphology	90121	TSR2	ORPHA:124
HP:0012718	Abnormal gastrointestinal tract morphology	6141	RPL18	ORPHA:124
HP:0012718	Abnormal gastrointestinal tract morphology	6235	RPS29	ORPHA:124
HP:0012718	Abnormal gastrointestinal tract morphology	8379	MAD1L1	OMIM:620189
HP:0012718	Abnormal gastrointestinal tract morphology	8915	BCL10	OMIM:137245
HP:0012718	Abnormal gastrointestinal tract morphology	55765	INAVA	OMIM:618077
HP:0012718	Abnormal gastrointestinal tract morphology	10747	MASP2	OMIM:613791
HP:0012718	Abnormal gastrointestinal tract morphology	27178	IL37	OMIM:619398
HP:0012718	Abnormal gastrointestinal tract morphology	1794	DOCK2	OMIM:616433
HP:0012718	Abnormal gastrointestinal tract morphology	27152	INTU	OMIM:617925
HP:0012718	Abnormal gastrointestinal tract morphology	4629	MYH11	OMIM:619350
HP:0012718	Abnormal gastrointestinal tract morphology	538	ATP7A	ORPHA:198
HP:0012718	Abnormal gastrointestinal tract morphology	5966	REL	OMIM:619652
HP:0012718	Abnormal gastrointestinal tract morphology	4221	MEN1	OMIM:131100
HP:0012718	Abnormal gastrointestinal tract morphology	6135	RPL11	OMIM:612562
HP:0012718	Abnormal gastrointestinal tract morphology	60684	TRAPPC11	OMIM:615356
HP:0012718	Abnormal gastrointestinal tract morphology	5238	PGM3	ORPHA:443811
HP:0012718	Abnormal gastrointestinal tract morphology	3376	IARS1	ORPHA:541423
HP:0012718	Abnormal gastrointestinal tract morphology	81031	SLC2A10	ORPHA:3342
HP:0012718	Abnormal gastrointestinal tract morphology	9719	ADAMTSL2	ORPHA:1901
HP:0012718	Abnormal gastrointestinal tract morphology	9509	ADAMTS2	ORPHA:1901
HP:0012718	Abnormal gastrointestinal tract morphology	6925	TCF4	ORPHA:2896
HP:0012718	Abnormal gastrointestinal tract morphology	2887	GRB10	ORPHA:96182
HP:0012718	Abnormal gastrointestinal tract morphology	2000	ELF4	OMIM:301074
HP:0012718	Abnormal gastrointestinal tract morphology	2743	GLRB	ORPHA:3197
HP:0012718	Abnormal gastrointestinal tract morphology	2741	GLRA1	ORPHA:3197
HP:0012718	Abnormal gastrointestinal tract morphology	10243	GPHN	ORPHA:3197
HP:0012718	Abnormal gastrointestinal tract morphology	84896	ATAD1	ORPHA:3197
HP:0012718	Abnormal gastrointestinal tract morphology	9152	SLC6A5	ORPHA:3197
HP:0012718	Abnormal gastrointestinal tract morphology	146206	CARMIL2	OMIM:618131
HP:0012718	Abnormal gastrointestinal tract morphology	7543	ZFX	OMIM:301118
HP:0012718	Abnormal gastrointestinal tract morphology	6812	STXBP1	ORPHA:495818
HP:0012718	Abnormal gastrointestinal tract morphology	5723	PSPH	ORPHA:79350
HP:0012718	Abnormal gastrointestinal tract morphology	26227	PHGDH	ORPHA:79351
HP:0012718	Abnormal gastrointestinal tract morphology	1027	CDKN1B	ORPHA:276152
HP:0012718	Abnormal gastrointestinal tract morphology	4913	NTHL1	ORPHA:454840
HP:0012718	Abnormal gastrointestinal tract morphology	641	BLM	ORPHA:125
HP:0012718	Abnormal gastrointestinal tract morphology	6794	STK11	ORPHA:2869
HP:0012718	Abnormal gastrointestinal tract morphology	79651	RHBDF2	ORPHA:2198
HP:0012718	Abnormal gastrointestinal tract morphology	2271	FH	ORPHA:523
HP:0012718	Abnormal gastrointestinal tract morphology	6389	SDHA	ORPHA:44890
HP:0012718	Abnormal gastrointestinal tract morphology	6390	SDHB	ORPHA:44890
HP:0012718	Abnormal gastrointestinal tract morphology	6391	SDHC	ORPHA:44890
HP:0012718	Abnormal gastrointestinal tract morphology	5156	PDGFRA	ORPHA:44890
HP:0012718	Abnormal gastrointestinal tract morphology	3815	KIT	ORPHA:44890
HP:0012718	Abnormal gastrointestinal tract morphology	5573	PRKAR1A	ORPHA:1359
HP:0012718	Abnormal gastrointestinal tract morphology	50940	PDE11A	ORPHA:1359
HP:0012718	Abnormal gastrointestinal tract morphology	7373	COL14A1	ORPHA:79501
HP:0012718	Abnormal gastrointestinal tract morphology	79719	AAGAB	ORPHA:79501
HP:0012718	Abnormal gastrointestinal tract morphology	54894	RNF43	ORPHA:157798
HP:0012718	Abnormal gastrointestinal tract morphology	145173	B3GLCT	ORPHA:709
HP:0012718	Abnormal gastrointestinal tract morphology	64220	STRA6	ORPHA:2470
HP:0012718	Abnormal gastrointestinal tract morphology	7477	WNT7B	ORPHA:2470
HP:0012718	Abnormal gastrointestinal tract morphology	8318	CDC45	OMIM:617063
HP:0012718	Abnormal gastrointestinal tract morphology	9184	BUB3	ORPHA:1052
HP:0012718	Abnormal gastrointestinal tract morphology	9702	CEP57	ORPHA:1052
HP:0012718	Abnormal gastrointestinal tract morphology	9319	TRIP13	ORPHA:1052
HP:0012718	Abnormal gastrointestinal tract morphology	2778	GNAS	OMIM:174800
HP:0012718	Abnormal gastrointestinal tract morphology	9817	KEAP1	ORPHA:276399
HP:0012718	Abnormal gastrointestinal tract morphology	23405	DICER1	ORPHA:276399
HP:0012718	Abnormal gastrointestinal tract morphology	4088	SMAD3	OMIM:613795
HP:0012718	Abnormal gastrointestinal tract morphology	7046	TGFBR1	OMIM:609192
HP:0012718	Abnormal gastrointestinal tract morphology	81704	DOCK8	OMIM:243700
HP:0012718	Abnormal gastrointestinal tract morphology	1828	DSG1	OMIM:615508
HP:0012718	Abnormal gastrointestinal tract morphology	7042	TGFB2	OMIM:614816
HP:0012718	Abnormal gastrointestinal tract morphology	7040	TGFB1	OMIM:618213
HP:0012719	Functional abnormality of the gastrointestinal tract	1497	CTNS	OMIM:219800
HP:0012719	Functional abnormality of the gastrointestinal tract	1145	CHRNE	OMIM:608931
HP:0012719	Functional abnormality of the gastrointestinal tract	1145	CHRNE	OMIM:605809
HP:0012719	Functional abnormality of the gastrointestinal tract	2673	GFPT1	OMIM:608931
HP:0012719	Functional abnormality of the gastrointestinal tract	1410	CRYAB	OMIM:608810
HP:0012719	Functional abnormality of the gastrointestinal tract	1410	CRYAB	ORPHA:399058
HP:0012719	Functional abnormality of the gastrointestinal tract	4287	ATXN3	OMIM:109150
HP:0012719	Functional abnormality of the gastrointestinal tract	4287	ATXN3	OMIM:168600
HP:0012719	Functional abnormality of the gastrointestinal tract	4287	ATXN3	ORPHA:276238
HP:0012719	Functional abnormality of the gastrointestinal tract	4287	ATXN3	ORPHA:276244
HP:0012719	Functional abnormality of the gastrointestinal tract	4287	ATXN3	ORPHA:276241
HP:0012719	Functional abnormality of the gastrointestinal tract	55703	POLR3B	OMIM:614381
HP:0012719	Functional abnormality of the gastrointestinal tract	55703	POLR3B	OMIM:607694
HP:0012719	Functional abnormality of the gastrointestinal tract	26235	FBXL4	OMIM:615471
HP:0012719	Functional abnormality of the gastrointestinal tract	8106	PABPN1	ORPHA:270
HP:0012719	Functional abnormality of the gastrointestinal tract	8106	PABPN1	OMIM:164300
HP:0012719	Functional abnormality of the gastrointestinal tract	1144	CHRND	OMIM:616321
HP:0012719	Functional abnormality of the gastrointestinal tract	1144	CHRND	OMIM:616323
HP:0012719	Functional abnormality of the gastrointestinal tract	4750	NEK1	OMIM:617892
HP:0012719	Functional abnormality of the gastrointestinal tract	4750	NEK1	ORPHA:803
HP:0012719	Functional abnormality of the gastrointestinal tract	23446	SLC44A1	OMIM:618868
HP:0012719	Functional abnormality of the gastrointestinal tract	4593	MUSK	OMIM:616325
HP:0012719	Functional abnormality of the gastrointestinal tract	10973	ASCC3	OMIM:620700
HP:0012719	Functional abnormality of the gastrointestinal tract	2720	GLB1	OMIM:230600
HP:0012719	Functional abnormality of the gastrointestinal tract	1134	CHRNA1	OMIM:608930
HP:0012719	Functional abnormality of the gastrointestinal tract	1134	CHRNA1	OMIM:601462
HP:0012719	Functional abnormality of the gastrointestinal tract	57679	ALS2	ORPHA:247604
HP:0012719	Functional abnormality of the gastrointestinal tract	57679	ALS2	OMIM:205100
HP:0012719	Functional abnormality of the gastrointestinal tract	57679	ALS2	ORPHA:300605
HP:0012719	Functional abnormality of the gastrointestinal tract	57679	ALS2	OMIM:607225
HP:0012719	Functional abnormality of the gastrointestinal tract	57679	ALS2	OMIM:606353
HP:0012719	Functional abnormality of the gastrointestinal tract	11160	ERLIN2	ORPHA:247604
HP:0012719	Functional abnormality of the gastrointestinal tract	11160	ERLIN2	ORPHA:280384
HP:0012719	Functional abnormality of the gastrointestinal tract	11160	ERLIN2	ORPHA:209951
HP:0012719	Functional abnormality of the gastrointestinal tract	9499	MYOT	ORPHA:266
HP:0012719	Functional abnormality of the gastrointestinal tract	5339	PLEC	ORPHA:254361
HP:0012719	Functional abnormality of the gastrointestinal tract	6687	SPG7	ORPHA:99013
HP:0012719	Functional abnormality of the gastrointestinal tract	6687	SPG7	OMIM:607259
HP:0012719	Functional abnormality of the gastrointestinal tract	6687	SPG7	ORPHA:35689
HP:0012719	Functional abnormality of the gastrointestinal tract	8291	DYSF	ORPHA:268
HP:0012719	Functional abnormality of the gastrointestinal tract	4535	MT-ND1	ORPHA:255210
HP:0012719	Functional abnormality of the gastrointestinal tract	4536	MT-ND2	ORPHA:255210
HP:0012719	Functional abnormality of the gastrointestinal tract	4537	MT-ND3	ORPHA:255210
HP:0012719	Functional abnormality of the gastrointestinal tract	4538	MT-ND4	ORPHA:255210
HP:0012719	Functional abnormality of the gastrointestinal tract	4567	MT-TL1	ORPHA:255210
HP:0012719	Functional abnormality of the gastrointestinal tract	4567	MT-TL1	ORPHA:480
HP:0012719	Functional abnormality of the gastrointestinal tract	4578	MT-TW	ORPHA:255210
HP:0012719	Functional abnormality of the gastrointestinal tract	4577	MT-TV	ORPHA:255210
HP:0012719	Functional abnormality of the gastrointestinal tract	4508	MT-ATP6	ORPHA:255210
HP:0012719	Functional abnormality of the gastrointestinal tract	4508	MT-ATP6	ORPHA:225154
HP:0012719	Functional abnormality of the gastrointestinal tract	4540	MT-ND5	ORPHA:255210
HP:0012719	Functional abnormality of the gastrointestinal tract	4541	MT-ND6	ORPHA:255210
HP:0012719	Functional abnormality of the gastrointestinal tract	4566	MT-TK	ORPHA:255210
HP:0012719	Functional abnormality of the gastrointestinal tract	3074	HEXB	ORPHA:309162
HP:0012719	Functional abnormality of the gastrointestinal tract	3074	HEXB	ORPHA:309169
HP:0012719	Functional abnormality of the gastrointestinal tract	79577	CDC73	ORPHA:143
HP:0012719	Functional abnormality of the gastrointestinal tract	79577	CDC73	ORPHA:99880
HP:0012719	Functional abnormality of the gastrointestinal tract	65993	MRPS34	OMIM:617664
HP:0012719	Functional abnormality of the gastrointestinal tract	6536	SLC6A9	OMIM:617301
HP:0012719	Functional abnormality of the gastrointestinal tract	1644	DDC	ORPHA:35708
HP:0012719	Functional abnormality of the gastrointestinal tract	10528	NOP56	OMIM:614153
HP:0012719	Functional abnormality of the gastrointestinal tract	10528	NOP56	ORPHA:276198
HP:0012719	Functional abnormality of the gastrointestinal tract	101060691	NUTM2B-AS1	OMIM:618637
HP:0012719	Functional abnormality of the gastrointestinal tract	1841	DTYMK	OMIM:619847
HP:0012719	Functional abnormality of the gastrointestinal tract	790	CAD	OMIM:616457
HP:0012719	Functional abnormality of the gastrointestinal tract	84466	MEGF10	OMIM:614399
HP:0012719	Functional abnormality of the gastrointestinal tract	84466	MEGF10	OMIM:620249
HP:0012719	Functional abnormality of the gastrointestinal tract	51112	TRAPPC12	OMIM:617669
HP:0012719	Functional abnormality of the gastrointestinal tract	51112	TRAPPC12	ORPHA:500144
HP:0012719	Functional abnormality of the gastrointestinal tract	55636	CHD7	ORPHA:138
HP:0012719	Functional abnormality of the gastrointestinal tract	55636	CHD7	OMIM:214800
HP:0012719	Functional abnormality of the gastrointestinal tract	9723	SEMA3E	ORPHA:138
HP:0012719	Functional abnormality of the gastrointestinal tract	3908	LAMA2	ORPHA:258
HP:0012719	Functional abnormality of the gastrointestinal tract	5189	PEX1	OMIM:214100
HP:0012719	Functional abnormality of the gastrointestinal tract	5428	POLG	ORPHA:298
HP:0012719	Functional abnormality of the gastrointestinal tract	5428	POLG	ORPHA:254892
HP:0012719	Functional abnormality of the gastrointestinal tract	5428	POLG	OMIM:258450
HP:0012719	Functional abnormality of the gastrointestinal tract	5428	POLG	ORPHA:254886
HP:0012719	Functional abnormality of the gastrointestinal tract	5428	POLG	OMIM:157640
HP:0012719	Functional abnormality of the gastrointestinal tract	5428	POLG	ORPHA:94125
HP:0012719	Functional abnormality of the gastrointestinal tract	5428	POLG	OMIM:607459
HP:0012719	Functional abnormality of the gastrointestinal tract	5428	POLG	OMIM:603041
HP:0012719	Functional abnormality of the gastrointestinal tract	1890	TYMP	ORPHA:298
HP:0012719	Functional abnormality of the gastrointestinal tract	1890	TYMP	OMIM:603041
HP:0012719	Functional abnormality of the gastrointestinal tract	3980	LIG3	ORPHA:298
HP:0012719	Functional abnormality of the gastrointestinal tract	3980	LIG3	OMIM:619780
HP:0012719	Functional abnormality of the gastrointestinal tract	50484	RRM2B	ORPHA:298
HP:0012719	Functional abnormality of the gastrointestinal tract	50484	RRM2B	OMIM:613077
HP:0012719	Functional abnormality of the gastrointestinal tract	50484	RRM2B	ORPHA:480
HP:0012719	Functional abnormality of the gastrointestinal tract	50484	RRM2B	ORPHA:254892
HP:0012719	Functional abnormality of the gastrointestinal tract	50484	RRM2B	ORPHA:329336
HP:0012719	Functional abnormality of the gastrointestinal tract	8575	PRKRA	ORPHA:210571
HP:0012719	Functional abnormality of the gastrointestinal tract	8575	PRKRA	OMIM:612067
HP:0012719	Functional abnormality of the gastrointestinal tract	79147	FKRP	OMIM:606612
HP:0012719	Functional abnormality of the gastrointestinal tract	348	APOE	OMIM:607822
HP:0012719	Functional abnormality of the gastrointestinal tract	5663	PSEN1	OMIM:607822
HP:0012719	Functional abnormality of the gastrointestinal tract	25885	POLR1A	OMIM:616462
HP:0012719	Functional abnormality of the gastrointestinal tract	7343	UBTF	OMIM:617672
HP:0012719	Functional abnormality of the gastrointestinal tract	7343	UBTF	ORPHA:500180
HP:0012719	Functional abnormality of the gastrointestinal tract	10352	WARS2	OMIM:619738
HP:0012719	Functional abnormality of the gastrointestinal tract	10352	WARS2	ORPHA:572798
HP:0012719	Functional abnormality of the gastrointestinal tract	3064	HTT	OMIM:617435
HP:0012719	Functional abnormality of the gastrointestinal tract	10939	AFG3L2	ORPHA:313772
HP:0012719	Functional abnormality of the gastrointestinal tract	10939	AFG3L2	OMIM:614487
HP:0012719	Functional abnormality of the gastrointestinal tract	83480	PUS3	ORPHA:488627
HP:0012719	Functional abnormality of the gastrointestinal tract	5621	PRNP	OMIM:600072
HP:0012719	Functional abnormality of the gastrointestinal tract	5621	PRNP	ORPHA:466
HP:0012719	Functional abnormality of the gastrointestinal tract	10049	DNAJB6	ORPHA:34516
HP:0012719	Functional abnormality of the gastrointestinal tract	10049	DNAJB6	OMIM:603511
HP:0012719	Functional abnormality of the gastrointestinal tract	4620	MYH2	OMIM:605637
HP:0012719	Functional abnormality of the gastrointestinal tract	857	CAV1	OMIM:606721
HP:0012719	Functional abnormality of the gastrointestinal tract	857	CAV1	ORPHA:220402
HP:0012719	Functional abnormality of the gastrointestinal tract	857	CAV1	ORPHA:220393
HP:0012719	Functional abnormality of the gastrointestinal tract	10935	PRDX3	OMIM:619862
HP:0012719	Functional abnormality of the gastrointestinal tract	4297	KMT2A	ORPHA:319182
HP:0012719	Functional abnormality of the gastrointestinal tract	246243	RNASEH1	OMIM:616479
HP:0012719	Functional abnormality of the gastrointestinal tract	246243	RNASEH1	ORPHA:329336
HP:0012719	Functional abnormality of the gastrointestinal tract	80208	SPG11	ORPHA:2822
HP:0012719	Functional abnormality of the gastrointestinal tract	80208	SPG11	ORPHA:300605
HP:0012719	Functional abnormality of the gastrointestinal tract	80208	SPG11	OMIM:604360
HP:0012719	Functional abnormality of the gastrointestinal tract	28514	DLL1	ORPHA:93926
HP:0012719	Functional abnormality of the gastrointestinal tract	28514	DLL1	ORPHA:93924
HP:0012719	Functional abnormality of the gastrointestinal tract	28514	DLL1	ORPHA:93925
HP:0012719	Functional abnormality of the gastrointestinal tract	28514	DLL1	ORPHA:280195
HP:0012719	Functional abnormality of the gastrointestinal tract	28514	DLL1	ORPHA:220386
HP:0012719	Functional abnormality of the gastrointestinal tract	2253	FGF8	ORPHA:93926
HP:0012719	Functional abnormality of the gastrointestinal tract	2253	FGF8	ORPHA:93924
HP:0012719	Functional abnormality of the gastrointestinal tract	2253	FGF8	ORPHA:93925
HP:0012719	Functional abnormality of the gastrointestinal tract	2253	FGF8	ORPHA:280195
HP:0012719	Functional abnormality of the gastrointestinal tract	2253	FGF8	ORPHA:220386
HP:0012719	Functional abnormality of the gastrointestinal tract	6496	SIX3	ORPHA:93926
HP:0012719	Functional abnormality of the gastrointestinal tract	6496	SIX3	ORPHA:93924
HP:0012719	Functional abnormality of the gastrointestinal tract	6496	SIX3	ORPHA:93925
HP:0012719	Functional abnormality of the gastrointestinal tract	6496	SIX3	ORPHA:280195
HP:0012719	Functional abnormality of the gastrointestinal tract	6496	SIX3	ORPHA:220386
HP:0012719	Functional abnormality of the gastrointestinal tract	7050	TGIF1	ORPHA:93926
HP:0012719	Functional abnormality of the gastrointestinal tract	7050	TGIF1	ORPHA:93924
HP:0012719	Functional abnormality of the gastrointestinal tract	7050	TGIF1	ORPHA:93925
HP:0012719	Functional abnormality of the gastrointestinal tract	7050	TGIF1	ORPHA:280195
HP:0012719	Functional abnormality of the gastrointestinal tract	7050	TGIF1	ORPHA:220386
HP:0012719	Functional abnormality of the gastrointestinal tract	4838	NODAL	ORPHA:93926
HP:0012719	Functional abnormality of the gastrointestinal tract	4838	NODAL	ORPHA:93924
HP:0012719	Functional abnormality of the gastrointestinal tract	4838	NODAL	ORPHA:93925
HP:0012719	Functional abnormality of the gastrointestinal tract	4838	NODAL	ORPHA:280195
HP:0012719	Functional abnormality of the gastrointestinal tract	4838	NODAL	ORPHA:220386
HP:0012719	Functional abnormality of the gastrointestinal tract	6469	SHH	ORPHA:93926
HP:0012719	Functional abnormality of the gastrointestinal tract	6469	SHH	ORPHA:93924
HP:0012719	Functional abnormality of the gastrointestinal tract	6469	SHH	ORPHA:93925
HP:0012719	Functional abnormality of the gastrointestinal tract	6469	SHH	ORPHA:280195
HP:0012719	Functional abnormality of the gastrointestinal tract	6469	SHH	ORPHA:220386
HP:0012719	Functional abnormality of the gastrointestinal tract	7546	ZIC2	ORPHA:93926
HP:0012719	Functional abnormality of the gastrointestinal tract	7546	ZIC2	ORPHA:93924
HP:0012719	Functional abnormality of the gastrointestinal tract	7546	ZIC2	ORPHA:93925
HP:0012719	Functional abnormality of the gastrointestinal tract	7546	ZIC2	ORPHA:280195
HP:0012719	Functional abnormality of the gastrointestinal tract	7546	ZIC2	ORPHA:220386
HP:0012719	Functional abnormality of the gastrointestinal tract	6491	STIL	ORPHA:93926
HP:0012719	Functional abnormality of the gastrointestinal tract	6491	STIL	ORPHA:93924
HP:0012719	Functional abnormality of the gastrointestinal tract	6491	STIL	ORPHA:93925
HP:0012719	Functional abnormality of the gastrointestinal tract	6491	STIL	ORPHA:280195
HP:0012719	Functional abnormality of the gastrointestinal tract	6491	STIL	ORPHA:220386
HP:0012719	Functional abnormality of the gastrointestinal tract	2619	GAS1	ORPHA:93926
HP:0012719	Functional abnormality of the gastrointestinal tract	2619	GAS1	ORPHA:93924
HP:0012719	Functional abnormality of the gastrointestinal tract	2619	GAS1	ORPHA:93925
HP:0012719	Functional abnormality of the gastrointestinal tract	2619	GAS1	ORPHA:280195
HP:0012719	Functional abnormality of the gastrointestinal tract	2619	GAS1	ORPHA:220386
HP:0012719	Functional abnormality of the gastrointestinal tract	84976	DISP1	ORPHA:93926
HP:0012719	Functional abnormality of the gastrointestinal tract	84976	DISP1	ORPHA:93924
HP:0012719	Functional abnormality of the gastrointestinal tract	84976	DISP1	ORPHA:93925
HP:0012719	Functional abnormality of the gastrointestinal tract	84976	DISP1	ORPHA:280195
HP:0012719	Functional abnormality of the gastrointestinal tract	84976	DISP1	ORPHA:220386
HP:0012719	Functional abnormality of the gastrointestinal tract	2736	GLI2	ORPHA:93926
HP:0012719	Functional abnormality of the gastrointestinal tract	2736	GLI2	ORPHA:93924
HP:0012719	Functional abnormality of the gastrointestinal tract	2736	GLI2	ORPHA:93925
HP:0012719	Functional abnormality of the gastrointestinal tract	2736	GLI2	ORPHA:280195
HP:0012719	Functional abnormality of the gastrointestinal tract	2736	GLI2	ORPHA:220386
HP:0012719	Functional abnormality of the gastrointestinal tract	8928	FOXH1	ORPHA:93926
HP:0012719	Functional abnormality of the gastrointestinal tract	8928	FOXH1	ORPHA:93924
HP:0012719	Functional abnormality of the gastrointestinal tract	8928	FOXH1	ORPHA:93925
HP:0012719	Functional abnormality of the gastrointestinal tract	8928	FOXH1	ORPHA:280195
HP:0012719	Functional abnormality of the gastrointestinal tract	8928	FOXH1	ORPHA:220386
HP:0012719	Functional abnormality of the gastrointestinal tract	6997	CRIPTO	ORPHA:93926
HP:0012719	Functional abnormality of the gastrointestinal tract	6997	CRIPTO	ORPHA:93924
HP:0012719	Functional abnormality of the gastrointestinal tract	6997	CRIPTO	ORPHA:93925
HP:0012719	Functional abnormality of the gastrointestinal tract	6997	CRIPTO	ORPHA:280195
HP:0012719	Functional abnormality of the gastrointestinal tract	6997	CRIPTO	ORPHA:220386
HP:0012719	Functional abnormality of the gastrointestinal tract	5727	PTCH1	ORPHA:93926
HP:0012719	Functional abnormality of the gastrointestinal tract	5727	PTCH1	ORPHA:93924
HP:0012719	Functional abnormality of the gastrointestinal tract	5727	PTCH1	ORPHA:93925
HP:0012719	Functional abnormality of the gastrointestinal tract	5727	PTCH1	ORPHA:280195
HP:0012719	Functional abnormality of the gastrointestinal tract	5727	PTCH1	ORPHA:220386
HP:0012719	Functional abnormality of the gastrointestinal tract	50937	CDON	ORPHA:93926
HP:0012719	Functional abnormality of the gastrointestinal tract	50937	CDON	ORPHA:93924
HP:0012719	Functional abnormality of the gastrointestinal tract	50937	CDON	ORPHA:93925
HP:0012719	Functional abnormality of the gastrointestinal tract	50937	CDON	ORPHA:280195
HP:0012719	Functional abnormality of the gastrointestinal tract	50937	CDON	ORPHA:220386
HP:0012719	Functional abnormality of the gastrointestinal tract	2783	GNB2	OMIM:619503
HP:0012719	Functional abnormality of the gastrointestinal tract	2260	FGFR1	ORPHA:93924
HP:0012719	Functional abnormality of the gastrointestinal tract	2260	FGFR1	ORPHA:220386
HP:0012719	Functional abnormality of the gastrointestinal tract	23007	PLCH1	ORPHA:93925
HP:0012719	Functional abnormality of the gastrointestinal tract	10735	STAG2	ORPHA:93925
HP:0012719	Functional abnormality of the gastrointestinal tract	10735	STAG2	ORPHA:220386
HP:0012719	Functional abnormality of the gastrointestinal tract	950	SCARB2	OMIM:254900
HP:0012719	Functional abnormality of the gastrointestinal tract	26834	RNU4-2	OMIM:620851
HP:0012719	Functional abnormality of the gastrointestinal tract	9897	WASHC5	OMIM:603563
HP:0012719	Functional abnormality of the gastrointestinal tract	8398	PLA2G6	ORPHA:199351
HP:0012719	Functional abnormality of the gastrointestinal tract	8398	PLA2G6	OMIM:610217
HP:0012719	Functional abnormality of the gastrointestinal tract	8622	PDE8B	ORPHA:228169
HP:0012719	Functional abnormality of the gastrointestinal tract	253738	EBF3	OMIM:617330
HP:0012719	Functional abnormality of the gastrointestinal tract	3572	IL6ST	OMIM:619751
HP:0012719	Functional abnormality of the gastrointestinal tract	2911	GRM1	OMIM:617691
HP:0012719	Functional abnormality of the gastrointestinal tract	55773	TBC1D23	OMIM:617695
HP:0012719	Functional abnormality of the gastrointestinal tract	23259	DDHD2	OMIM:615033
HP:0012719	Functional abnormality of the gastrointestinal tract	23259	DDHD2	ORPHA:320380
HP:0012719	Functional abnormality of the gastrointestinal tract	54902	TTC19	OMIM:615157
HP:0012719	Functional abnormality of the gastrointestinal tract	391356	PTRHD1	OMIM:620747
HP:0012719	Functional abnormality of the gastrointestinal tract	2643	GCH1	OMIM:233910
HP:0012719	Functional abnormality of the gastrointestinal tract	55823	VPS11	OMIM:619637
HP:0012719	Functional abnormality of the gastrointestinal tract	5590	PRKCZ	ORPHA:1606
HP:0012719	Functional abnormality of the gastrointestinal tract	2563	GABRD	ORPHA:1606
HP:0012719	Functional abnormality of the gastrointestinal tract	23013	SPEN	ORPHA:1606
HP:0012719	Functional abnormality of the gastrointestinal tract	23013	SPEN	OMIM:619312
HP:0012719	Functional abnormality of the gastrointestinal tract	8510	MMP23B	ORPHA:1606
HP:0012719	Functional abnormality of the gastrointestinal tract	7798	LUZP1	ORPHA:1606
HP:0012719	Functional abnormality of the gastrointestinal tract	6497	SKI	ORPHA:1606
HP:0012719	Functional abnormality of the gastrointestinal tract	10630	PDPN	ORPHA:1606
HP:0012719	Functional abnormality of the gastrointestinal tract	3339	HSPG2	ORPHA:1606
HP:0012719	Functional abnormality of the gastrointestinal tract	10277	UBE4B	ORPHA:1606
HP:0012719	Functional abnormality of the gastrointestinal tract	8514	KCNAB2	ORPHA:1606
HP:0012719	Functional abnormality of the gastrointestinal tract	473	RERE	ORPHA:1606
HP:0012719	Functional abnormality of the gastrointestinal tract	473	RERE	ORPHA:494344
HP:0012719	Functional abnormality of the gastrointestinal tract	63976	PRDM16	ORPHA:1606
HP:0012719	Functional abnormality of the gastrointestinal tract	54897	CASZ1	ORPHA:1606
HP:0012719	Functional abnormality of the gastrointestinal tract	8659	ALDH4A1	ORPHA:79101
HP:0012719	Functional abnormality of the gastrointestinal tract	1180	CLCN1	OMIM:255700
HP:0012719	Functional abnormality of the gastrointestinal tract	1180	CLCN1	ORPHA:614
HP:0012719	Functional abnormality of the gastrointestinal tract	58	ACTA1	OMIM:161800
HP:0012719	Functional abnormality of the gastrointestinal tract	58	ACTA1	OMIM:620265
HP:0012719	Functional abnormality of the gastrointestinal tract	58	ACTA1	ORPHA:171433
HP:0012719	Functional abnormality of the gastrointestinal tract	58	ACTA1	ORPHA:171430
HP:0012719	Functional abnormality of the gastrointestinal tract	58	ACTA1	OMIM:620278
HP:0012719	Functional abnormality of the gastrointestinal tract	58	ACTA1	ORPHA:2020
HP:0012719	Functional abnormality of the gastrointestinal tract	5860	QDPR	ORPHA:226
HP:0012719	Functional abnormality of the gastrointestinal tract	5860	QDPR	OMIM:261630
HP:0012719	Functional abnormality of the gastrointestinal tract	93986	FOXP2	ORPHA:251061
HP:0012719	Functional abnormality of the gastrointestinal tract	7750	ZMYM2	OMIM:619522
HP:0012719	Functional abnormality of the gastrointestinal tract	56947	MFF	ORPHA:485421
HP:0012719	Functional abnormality of the gastrointestinal tract	56947	MFF	OMIM:617086
HP:0012719	Functional abnormality of the gastrointestinal tract	4076	CAPRIN1	OMIM:620636
HP:0012719	Functional abnormality of the gastrointestinal tract	10342	TFG	ORPHA:90117
HP:0012719	Functional abnormality of the gastrointestinal tract	57462	MYORG	OMIM:618317
HP:0012719	Functional abnormality of the gastrointestinal tract	9562	MINPP1	OMIM:619527
HP:0012719	Functional abnormality of the gastrointestinal tract	540	ATP7B	OMIM:277900
HP:0012719	Functional abnormality of the gastrointestinal tract	56652	TWNK	OMIM:271245
HP:0012719	Functional abnormality of the gastrointestinal tract	56652	TWNK	ORPHA:254892
HP:0012719	Functional abnormality of the gastrointestinal tract	56652	TWNK	OMIM:609286
HP:0012719	Functional abnormality of the gastrointestinal tract	56652	TWNK	OMIM:607459
HP:0012719	Functional abnormality of the gastrointestinal tract	23314	SATB2	ORPHA:576283
HP:0012719	Functional abnormality of the gastrointestinal tract	4626	MYH8	OMIM:158300
HP:0012719	Functional abnormality of the gastrointestinal tract	57724	EPG5	OMIM:242840
HP:0012719	Functional abnormality of the gastrointestinal tract	1436	CSF1R	OMIM:221820
HP:0012719	Functional abnormality of the gastrointestinal tract	5354	PLP1	OMIM:312080
HP:0012719	Functional abnormality of the gastrointestinal tract	6843	VAMP1	OMIM:618323
HP:0012719	Functional abnormality of the gastrointestinal tract	6843	VAMP1	ORPHA:251282
HP:0012719	Functional abnormality of the gastrointestinal tract	6843	VAMP1	OMIM:108600
HP:0012719	Functional abnormality of the gastrointestinal tract	6843	VAMP1	ORPHA:98914
HP:0012719	Functional abnormality of the gastrointestinal tract	4123	MAN2C1	OMIM:619775
HP:0012719	Functional abnormality of the gastrointestinal tract	3798	KIF5A	OMIM:617235
HP:0012719	Functional abnormality of the gastrointestinal tract	339855	KY	OMIM:617114
HP:0012719	Functional abnormality of the gastrointestinal tract	339855	KY	ORPHA:496689
HP:0012719	Functional abnormality of the gastrointestinal tract	79977	GRHL2	OMIM:616029
HP:0012719	Functional abnormality of the gastrointestinal tract	6240	RRM1	OMIM:620647
HP:0012719	Functional abnormality of the gastrointestinal tract	7994	KAT6A	OMIM:616268
HP:0012719	Functional abnormality of the gastrointestinal tract	23499	MACF1	OMIM:618325
HP:0012719	Functional abnormality of the gastrointestinal tract	23499	MACF1	ORPHA:572013
HP:0012719	Functional abnormality of the gastrointestinal tract	23219	FBXO28	OMIM:619777
HP:0012719	Functional abnormality of the gastrointestinal tract	2055	CLN8	ORPHA:1947
HP:0012719	Functional abnormality of the gastrointestinal tract	51322	WAC	ORPHA:466950
HP:0012719	Functional abnormality of the gastrointestinal tract	5837	PYGM	ORPHA:368
HP:0012719	Functional abnormality of the gastrointestinal tract	2512	FTL	ORPHA:157846
HP:0012719	Functional abnormality of the gastrointestinal tract	2512	FTL	OMIM:606159
HP:0012719	Functional abnormality of the gastrointestinal tract	2629	GBA1	ORPHA:77260
HP:0012719	Functional abnormality of the gastrointestinal tract	2629	GBA1	OMIM:230900
HP:0012719	Functional abnormality of the gastrointestinal tract	2629	GBA1	OMIM:168600
HP:0012719	Functional abnormality of the gastrointestinal tract	2629	GBA1	OMIM:608013
HP:0012719	Functional abnormality of the gastrointestinal tract	2629	GBA1	ORPHA:411602
HP:0012719	Functional abnormality of the gastrointestinal tract	10533	ATG7	OMIM:619422
HP:0012719	Functional abnormality of the gastrointestinal tract	4509	MT-ATP8	ORPHA:480
HP:0012719	Functional abnormality of the gastrointestinal tract	51117	COQ4	OMIM:616276
HP:0012719	Functional abnormality of the gastrointestinal tract	120	ADD3	OMIM:617008
HP:0012719	Functional abnormality of the gastrointestinal tract	171546	SPTSSA	OMIM:620416
HP:0012719	Functional abnormality of the gastrointestinal tract	171546	SPTSSA	OMIM:620417
HP:0012719	Functional abnormality of the gastrointestinal tract	27429	HTRA2	OMIM:617248
HP:0012719	Functional abnormality of the gastrointestinal tract	5081	PAX7	OMIM:618578
HP:0012719	Functional abnormality of the gastrointestinal tract	1674	DES	OMIM:181400
HP:0012719	Functional abnormality of the gastrointestinal tract	3736	KCNA1	ORPHA:1934
HP:0012719	Functional abnormality of the gastrointestinal tract	9091	PIGQ	ORPHA:1934
HP:0012719	Functional abnormality of the gastrointestinal tract	140679	SLC32A1	ORPHA:1934
HP:0012719	Functional abnormality of the gastrointestinal tract	2775	GNAO1	ORPHA:1934
HP:0012719	Functional abnormality of the gastrointestinal tract	2775	GNAO1	OMIM:617493
HP:0012719	Functional abnormality of the gastrointestinal tract	81603	TRIM8	ORPHA:1934
HP:0012719	Functional abnormality of the gastrointestinal tract	2902	GRIN1	ORPHA:1934
HP:0012719	Functional abnormality of the gastrointestinal tract	79751	SLC25A22	ORPHA:1934
HP:0012719	Functional abnormality of the gastrointestinal tract	150094	SIK1	ORPHA:1934
HP:0012719	Functional abnormality of the gastrointestinal tract	8573	CASK	ORPHA:1934
HP:0012719	Functional abnormality of the gastrointestinal tract	23312	DMXL2	ORPHA:1934
HP:0012719	Functional abnormality of the gastrointestinal tract	2917	GRM7	ORPHA:1934
HP:0012719	Functional abnormality of the gastrointestinal tract	2917	GRM7	OMIM:618922
HP:0012719	Functional abnormality of the gastrointestinal tract	170302	ARX	ORPHA:1934
HP:0012719	Functional abnormality of the gastrointestinal tract	170302	ARX	OMIM:308350
HP:0012719	Functional abnormality of the gastrointestinal tract	11284	PNKP	ORPHA:1934
HP:0012719	Functional abnormality of the gastrointestinal tract	6326	SCN2A	ORPHA:1934
HP:0012719	Functional abnormality of the gastrointestinal tract	51227	PIGP	ORPHA:1934
HP:0012719	Functional abnormality of the gastrointestinal tract	6324	SCN1B	ORPHA:1934
HP:0012719	Functional abnormality of the gastrointestinal tract	4761	NEUROD2	ORPHA:1934
HP:0012719	Functional abnormality of the gastrointestinal tract	4761	NEUROD2	OMIM:618374
HP:0012719	Functional abnormality of the gastrointestinal tract	4001	LMNB1	ORPHA:99027
HP:0012719	Functional abnormality of the gastrointestinal tract	389827	MYMK	OMIM:254940
HP:0012719	Functional abnormality of the gastrointestinal tract	2639	GCDH	ORPHA:25
HP:0012719	Functional abnormality of the gastrointestinal tract	291	SLC25A4	ORPHA:254892
HP:0012719	Functional abnormality of the gastrointestinal tract	11232	POLG2	ORPHA:254892
HP:0012719	Functional abnormality of the gastrointestinal tract	9361	LONP1	OMIM:600373
HP:0012719	Functional abnormality of the gastrointestinal tract	4487	MSX1	ORPHA:141291
HP:0012719	Functional abnormality of the gastrointestinal tract	5818	NECTIN1	ORPHA:141291
HP:0012719	Functional abnormality of the gastrointestinal tract	8626	TP63	ORPHA:141291
HP:0012719	Functional abnormality of the gastrointestinal tract	3664	IRF6	ORPHA:141291
HP:0012719	Functional abnormality of the gastrointestinal tract	353116	RILPL1	OMIM:619790
HP:0012719	Functional abnormality of the gastrointestinal tract	23111	SPART	OMIM:275900
HP:0012719	Functional abnormality of the gastrointestinal tract	23111	SPART	ORPHA:101000
HP:0012719	Functional abnormality of the gastrointestinal tract	4137	MAPT	OMIM:601104
HP:0012719	Functional abnormality of the gastrointestinal tract	4137	MAPT	ORPHA:240112
HP:0012719	Functional abnormality of the gastrointestinal tract	4137	MAPT	ORPHA:240103
HP:0012719	Functional abnormality of the gastrointestinal tract	4137	MAPT	OMIM:168600
HP:0012719	Functional abnormality of the gastrointestinal tract	56896	DPYSL5	OMIM:619435
HP:0012719	Functional abnormality of the gastrointestinal tract	54892	NCAPG2	OMIM:618460
HP:0012719	Functional abnormality of the gastrointestinal tract	1859	DYRK1A	ORPHA:268261
HP:0012719	Functional abnormality of the gastrointestinal tract	2495	FTH1	OMIM:620669
HP:0012719	Functional abnormality of the gastrointestinal tract	53371	NUP54	OMIM:620427
HP:0012719	Functional abnormality of the gastrointestinal tract	53371	NUP54	ORPHA:225154
HP:0012719	Functional abnormality of the gastrointestinal tract	79912	PYROXD1	OMIM:617258
HP:0012719	Functional abnormality of the gastrointestinal tract	4719	NDUFS1	OMIM:618226
HP:0012719	Functional abnormality of the gastrointestinal tract	79903	NAA60	OMIM:620786
HP:0012719	Functional abnormality of the gastrointestinal tract	11267	SNF8	OMIM:620784
HP:0012719	Functional abnormality of the gastrointestinal tract	11267	SNF8	OMIM:620783
HP:0012719	Functional abnormality of the gastrointestinal tract	4703	NEB	OMIM:256030
HP:0012719	Functional abnormality of the gastrointestinal tract	4703	NEB	ORPHA:171433
HP:0012719	Functional abnormality of the gastrointestinal tract	4703	NEB	ORPHA:171430
HP:0012719	Functional abnormality of the gastrointestinal tract	1235	CCR6	ORPHA:220402
HP:0012719	Functional abnormality of the gastrointestinal tract	1235	CCR6	ORPHA:220393
HP:0012719	Functional abnormality of the gastrointestinal tract	79932	KIAA0319L	ORPHA:220402
HP:0012719	Functional abnormality of the gastrointestinal tract	1490	CCN2	ORPHA:220402
HP:0012719	Functional abnormality of the gastrointestinal tract	1490	CCN2	ORPHA:220393
HP:0012719	Functional abnormality of the gastrointestinal tract	91942	NDUFAF2	OMIM:618233
HP:0012719	Functional abnormality of the gastrointestinal tract	60482	SLC5A7	OMIM:617143
HP:0012719	Functional abnormality of the gastrointestinal tract	60482	SLC5A7	ORPHA:98914
HP:0012719	Functional abnormality of the gastrointestinal tract	7084	TK2	ORPHA:254886
HP:0012719	Functional abnormality of the gastrointestinal tract	7084	TK2	ORPHA:254875
HP:0012719	Functional abnormality of the gastrointestinal tract	7084	TK2	OMIM:617069
HP:0012719	Functional abnormality of the gastrointestinal tract	81790	RNF170	OMIM:619686
HP:0012719	Functional abnormality of the gastrointestinal tract	84909	AOPEP	OMIM:619565
HP:0012719	Functional abnormality of the gastrointestinal tract	478	ATP1A3	OMIM:601338
HP:0012719	Functional abnormality of the gastrointestinal tract	478	ATP1A3	OMIM:128235
HP:0012719	Functional abnormality of the gastrointestinal tract	478	ATP1A3	ORPHA:1171
HP:0012719	Functional abnormality of the gastrointestinal tract	478	ATP1A3	ORPHA:2131
HP:0012719	Functional abnormality of the gastrointestinal tract	478	ATP1A3	ORPHA:71517
HP:0012719	Functional abnormality of the gastrointestinal tract	283989	TSEN54	OMIM:225753
HP:0012719	Functional abnormality of the gastrointestinal tract	283989	TSEN54	OMIM:277470
HP:0012719	Functional abnormality of the gastrointestinal tract	25814	ATXN10	OMIM:603516
HP:0012719	Functional abnormality of the gastrointestinal tract	5649	RELN	ORPHA:89844
HP:0012719	Functional abnormality of the gastrointestinal tract	10300	KATNB1	ORPHA:89844
HP:0012719	Functional abnormality of the gastrointestinal tract	54820	NDE1	ORPHA:89844
HP:0012719	Functional abnormality of the gastrointestinal tract	4722	NDUFS3	OMIM:618230
HP:0012719	Functional abnormality of the gastrointestinal tract	710	SERPING1	ORPHA:100050
HP:0012719	Functional abnormality of the gastrointestinal tract	1760	DMPK	OMIM:160900
HP:0012719	Functional abnormality of the gastrointestinal tract	1760	DMPK	ORPHA:589821
HP:0012719	Functional abnormality of the gastrointestinal tract	387119	CEP85L	ORPHA:572013
HP:0012719	Functional abnormality of the gastrointestinal tract	6904	TBCD	ORPHA:496641
HP:0012719	Functional abnormality of the gastrointestinal tract	427	ASAH1	OMIM:159950
HP:0012719	Functional abnormality of the gastrointestinal tract	427	ASAH1	ORPHA:2590
HP:0012719	Functional abnormality of the gastrointestinal tract	10059	DNM1L	ORPHA:98673
HP:0012719	Functional abnormality of the gastrointestinal tract	4976	OPA1	ORPHA:98673
HP:0012719	Functional abnormality of the gastrointestinal tract	4976	OPA1	OMIM:210000
HP:0012719	Functional abnormality of the gastrointestinal tract	7337	UBE3A	ORPHA:98794
HP:0012719	Functional abnormality of the gastrointestinal tract	7337	UBE3A	ORPHA:98795
HP:0012719	Functional abnormality of the gastrointestinal tract	7337	UBE3A	ORPHA:411511
HP:0012719	Functional abnormality of the gastrointestinal tract	4948	OCA2	ORPHA:98794
HP:0012719	Functional abnormality of the gastrointestinal tract	5980	REV3L	ORPHA:570
HP:0012719	Functional abnormality of the gastrointestinal tract	23129	PLXND1	ORPHA:570
HP:0012719	Functional abnormality of the gastrointestinal tract	65055	REEP1	ORPHA:101011
HP:0012719	Functional abnormality of the gastrointestinal tract	65055	REEP1	OMIM:610250
HP:0012719	Functional abnormality of the gastrointestinal tract	351	APP	ORPHA:324708
HP:0012719	Functional abnormality of the gastrointestinal tract	56915	EXOSC5	OMIM:619576
HP:0012719	Functional abnormality of the gastrointestinal tract	51132	RLIM	OMIM:300978
HP:0012719	Functional abnormality of the gastrointestinal tract	10588	MTHFS	OMIM:618367
HP:0012719	Functional abnormality of the gastrointestinal tract	4704	NDUFA9	OMIM:618247
HP:0012719	Functional abnormality of the gastrointestinal tract	29978	UBQLN2	OMIM:300857
HP:0012719	Functional abnormality of the gastrointestinal tract	29978	UBQLN2	ORPHA:803
HP:0012719	Functional abnormality of the gastrointestinal tract	8260	NAA10	OMIM:300855
HP:0012719	Functional abnormality of the gastrointestinal tract	182	JAG1	OMIM:619574
HP:0012719	Functional abnormality of the gastrointestinal tract	7170	TPM3	OMIM:609284
HP:0012719	Functional abnormality of the gastrointestinal tract	7170	TPM3	ORPHA:171433
HP:0012719	Functional abnormality of the gastrointestinal tract	7170	TPM3	ORPHA:2020
HP:0012719	Functional abnormality of the gastrointestinal tract	7170	TPM3	OMIM:255310
HP:0012719	Functional abnormality of the gastrointestinal tract	7169	TPM2	OMIM:609285
HP:0012719	Functional abnormality of the gastrointestinal tract	7169	TPM2	ORPHA:2020
HP:0012719	Functional abnormality of the gastrointestinal tract	54834	GDAP2	OMIM:618369
HP:0012719	Functional abnormality of the gastrointestinal tract	51704	GPRC5B	OMIM:620447
HP:0012719	Functional abnormality of the gastrointestinal tract	361	AQP4	OMIM:620448
HP:0012719	Functional abnormality of the gastrointestinal tract	4864	NPC1	OMIM:257220
HP:0012719	Functional abnormality of the gastrointestinal tract	6329	SCN4A	ORPHA:684
HP:0012719	Functional abnormality of the gastrointestinal tract	6329	SCN4A	ORPHA:99735
HP:0012719	Functional abnormality of the gastrointestinal tract	6329	SCN4A	ORPHA:99736
HP:0012719	Functional abnormality of the gastrointestinal tract	5805	PTS	ORPHA:13
HP:0012719	Functional abnormality of the gastrointestinal tract	5805	PTS	OMIM:261640
HP:0012719	Functional abnormality of the gastrointestinal tract	51102	MECR	OMIM:617282
HP:0012719	Functional abnormality of the gastrointestinal tract	51102	MECR	ORPHA:508093
HP:0012719	Functional abnormality of the gastrointestinal tract	51324	SPG21	ORPHA:101001
HP:0012719	Functional abnormality of the gastrointestinal tract	51324	SPG21	OMIM:248900
HP:0012719	Functional abnormality of the gastrointestinal tract	5631	PRPS1	OMIM:301835
HP:0012719	Functional abnormality of the gastrointestinal tract	3977	LIFR	OMIM:601559
HP:0012719	Functional abnormality of the gastrointestinal tract	2906	GRIN2D	OMIM:617162
HP:0012719	Functional abnormality of the gastrointestinal tract	127833	SYT2	OMIM:619461
HP:0012719	Functional abnormality of the gastrointestinal tract	127833	SYT2	ORPHA:98914
HP:0012719	Functional abnormality of the gastrointestinal tract	1822	ATN1	OMIM:618494
HP:0012719	Functional abnormality of the gastrointestinal tract	2705	GJB1	OMIM:302800
HP:0012719	Functional abnormality of the gastrointestinal tract	4700	NDUFA6	OMIM:618253
HP:0012719	Functional abnormality of the gastrointestinal tract	51305	KCNK9	ORPHA:166108
HP:0012719	Functional abnormality of the gastrointestinal tract	51305	KCNK9	OMIM:612292
HP:0012719	Functional abnormality of the gastrointestinal tract	1200	TPP1	OMIM:609270
HP:0012719	Functional abnormality of the gastrointestinal tract	6304	SATB1	OMIM:619229
HP:0012719	Functional abnormality of the gastrointestinal tract	1974	EIF4A2	OMIM:620455
HP:0012719	Functional abnormality of the gastrointestinal tract	220296	HEPACAM	OMIM:613925
HP:0012719	Functional abnormality of the gastrointestinal tract	29967	LRP12	OMIM:620452
HP:0012719	Functional abnormality of the gastrointestinal tract	29967	LRP12	OMIM:164310
HP:0012719	Functional abnormality of the gastrointestinal tract	26040	SETBP1	ORPHA:798
HP:0012719	Functional abnormality of the gastrointestinal tract	3028	HSD17B10	ORPHA:391428
HP:0012719	Functional abnormality of the gastrointestinal tract	9757	KMT2B	ORPHA:589618
HP:0012719	Functional abnormality of the gastrointestinal tract	55975	KLHL7	OMIM:617055
HP:0012719	Functional abnormality of the gastrointestinal tract	55697	VAC14	OMIM:617054
HP:0012719	Functional abnormality of the gastrointestinal tract	10526	IPO8	OMIM:619472
HP:0012719	Functional abnormality of the gastrointestinal tract	100996717	NOTCH2NLC	OMIM:619473
HP:0012719	Functional abnormality of the gastrointestinal tract	2318	FLNC	ORPHA:63273
HP:0012719	Functional abnormality of the gastrointestinal tract	7345	UCHL1	OMIM:620221
HP:0012719	Functional abnormality of the gastrointestinal tract	3181	HNRNPA2B1	OMIM:620460
HP:0012719	Functional abnormality of the gastrointestinal tract	283446	MYO1H	OMIM:619482
HP:0012719	Functional abnormality of the gastrointestinal tract	7204	TRIO	OMIM:617061
HP:0012719	Functional abnormality of the gastrointestinal tract	8567	MADD	OMIM:619004
HP:0012719	Functional abnormality of the gastrointestinal tract	29123	ANKRD11	ORPHA:261250
HP:0012719	Functional abnormality of the gastrointestinal tract	23230	VPS13A	OMIM:200150
HP:0012719	Functional abnormality of the gastrointestinal tract	23230	VPS13A	ORPHA:2388
HP:0012719	Functional abnormality of the gastrointestinal tract	498	ATP5F1A	OMIM:620358
HP:0012719	Functional abnormality of the gastrointestinal tract	2799	GNS	OMIM:252940
HP:0012719	Functional abnormality of the gastrointestinal tract	1893	ECM1	ORPHA:530
HP:0012719	Functional abnormality of the gastrointestinal tract	1716	DGUOK	OMIM:617070
HP:0012719	Functional abnormality of the gastrointestinal tract	1716	DGUOK	ORPHA:329314
HP:0012719	Functional abnormality of the gastrointestinal tract	23636	NUP62	ORPHA:225154
HP:0012719	Functional abnormality of the gastrointestinal tract	23636	NUP62	OMIM:271930
HP:0012719	Functional abnormality of the gastrointestinal tract	103	ADAR	ORPHA:225154
HP:0012719	Functional abnormality of the gastrointestinal tract	72	ACTG2	OMIM:155310
HP:0012719	Functional abnormality of the gastrointestinal tract	10479	SLC9A6	ORPHA:85278
HP:0012719	Functional abnormality of the gastrointestinal tract	10479	SLC9A6	OMIM:300243
HP:0012719	Functional abnormality of the gastrointestinal tract	1984	EIF5A	OMIM:619376
HP:0012719	Functional abnormality of the gastrointestinal tract	10273	STUB1	ORPHA:412057
HP:0012719	Functional abnormality of the gastrointestinal tract	10273	STUB1	OMIM:618093
HP:0012719	Functional abnormality of the gastrointestinal tract	7415	VCP	OMIM:613954
HP:0012719	Functional abnormality of the gastrointestinal tract	7415	VCP	ORPHA:275872
HP:0012719	Functional abnormality of the gastrointestinal tract	7415	VCP	ORPHA:803
HP:0012719	Functional abnormality of the gastrointestinal tract	138050	HGSNAT	OMIM:252930
HP:0012719	Functional abnormality of the gastrointestinal tract	84081	NSRP1	OMIM:620001
HP:0012719	Functional abnormality of the gastrointestinal tract	5216	PFN1	OMIM:614808
HP:0012719	Functional abnormality of the gastrointestinal tract	5216	PFN1	ORPHA:803
HP:0012719	Functional abnormality of the gastrointestinal tract	1678	TIMM8A	ORPHA:52368
HP:0012719	Functional abnormality of the gastrointestinal tract	1678	TIMM8A	OMIM:304700
HP:0012719	Functional abnormality of the gastrointestinal tract	4914	NTRK1	ORPHA:642
HP:0012719	Functional abnormality of the gastrointestinal tract	64432	MRPS25	OMIM:619025
HP:0012719	Functional abnormality of the gastrointestinal tract	84842	HPDL	OMIM:619027
HP:0012719	Functional abnormality of the gastrointestinal tract	132001	TAMM41	OMIM:620139
HP:0012719	Functional abnormality of the gastrointestinal tract	3708	ITPR1	OMIM:206700
HP:0012719	Functional abnormality of the gastrointestinal tract	3708	ITPR1	OMIM:117360
HP:0012719	Functional abnormality of the gastrointestinal tract	3708	ITPR1	OMIM:606658
HP:0012719	Functional abnormality of the gastrointestinal tract	126	ADH1C	OMIM:168600
HP:0012719	Functional abnormality of the gastrointestinal tract	4576	MT-TT	OMIM:168600
HP:0012719	Functional abnormality of the gastrointestinal tract	9627	SNCAIP	OMIM:168600
HP:0012719	Functional abnormality of the gastrointestinal tract	6908	TBP	OMIM:168600
HP:0012719	Functional abnormality of the gastrointestinal tract	6908	TBP	OMIM:607136
HP:0012719	Functional abnormality of the gastrointestinal tract	4929	NR4A2	OMIM:168600
HP:0012719	Functional abnormality of the gastrointestinal tract	6311	ATXN2	OMIM:168600
HP:0012719	Functional abnormality of the gastrointestinal tract	6311	ATXN2	OMIM:183090
HP:0012719	Functional abnormality of the gastrointestinal tract	6311	ATXN2	ORPHA:803
HP:0012719	Functional abnormality of the gastrointestinal tract	6315	ATXN8OS	OMIM:168600
HP:0012719	Functional abnormality of the gastrointestinal tract	6315	ATXN8OS	ORPHA:98760
HP:0012719	Functional abnormality of the gastrointestinal tract	6315	ATXN8OS	OMIM:608768
HP:0012719	Functional abnormality of the gastrointestinal tract	4771	NF2	ORPHA:637
HP:0012719	Functional abnormality of the gastrointestinal tract	6622	SNCA	OMIM:168601
HP:0012719	Functional abnormality of the gastrointestinal tract	6622	SNCA	ORPHA:171695
HP:0012719	Functional abnormality of the gastrointestinal tract	6622	SNCA	ORPHA:411602
HP:0012719	Functional abnormality of the gastrointestinal tract	3156	HMGCR	OMIM:620375
HP:0012719	Functional abnormality of the gastrointestinal tract	4763	NF1	ORPHA:638
HP:0012719	Functional abnormality of the gastrointestinal tract	10128	LRPPRC	OMIM:220111
HP:0012719	Functional abnormality of the gastrointestinal tract	10128	LRPPRC	ORPHA:70472
HP:0012719	Functional abnormality of the gastrointestinal tract	773	CACNA1A	OMIM:183086
HP:0012719	Functional abnormality of the gastrointestinal tract	773	CACNA1A	ORPHA:2131
HP:0012719	Functional abnormality of the gastrointestinal tract	773	CACNA1A	ORPHA:98758
HP:0012719	Functional abnormality of the gastrointestinal tract	80308	FLAD1	OMIM:255100
HP:0012719	Functional abnormality of the gastrointestinal tract	9782	MATR3	OMIM:606070
HP:0012719	Functional abnormality of the gastrointestinal tract	9782	MATR3	ORPHA:600
HP:0012719	Functional abnormality of the gastrointestinal tract	9782	MATR3	ORPHA:803
HP:0012719	Functional abnormality of the gastrointestinal tract	400916	CHCHD10	OMIM:615911
HP:0012719	Functional abnormality of the gastrointestinal tract	400916	CHCHD10	ORPHA:275872
HP:0012719	Functional abnormality of the gastrointestinal tract	400916	CHCHD10	ORPHA:803
HP:0012719	Functional abnormality of the gastrointestinal tract	400916	CHCHD10	ORPHA:276435
HP:0012719	Functional abnormality of the gastrointestinal tract	775	CACNA1C	OMIM:620029
HP:0012719	Functional abnormality of the gastrointestinal tract	7138	TNNT1	OMIM:620389
HP:0012719	Functional abnormality of the gastrointestinal tract	2521	FUS	ORPHA:275872
HP:0012719	Functional abnormality of the gastrointestinal tract	2521	FUS	ORPHA:300605
HP:0012719	Functional abnormality of the gastrointestinal tract	2521	FUS	ORPHA:803
HP:0012719	Functional abnormality of the gastrointestinal tract	8878	SQSTM1	ORPHA:275872
HP:0012719	Functional abnormality of the gastrointestinal tract	8878	SQSTM1	ORPHA:803
HP:0012719	Functional abnormality of the gastrointestinal tract	8878	SQSTM1	OMIM:616437
HP:0012719	Functional abnormality of the gastrointestinal tract	23435	TARDBP	ORPHA:275872
HP:0012719	Functional abnormality of the gastrointestinal tract	23435	TARDBP	ORPHA:803
HP:0012719	Functional abnormality of the gastrointestinal tract	23435	TARDBP	OMIM:612069
HP:0012719	Functional abnormality of the gastrointestinal tract	29110	TBK1	ORPHA:275872
HP:0012719	Functional abnormality of the gastrointestinal tract	29110	TBK1	ORPHA:803
HP:0012719	Functional abnormality of the gastrointestinal tract	29110	TBK1	OMIM:616439
HP:0012719	Functional abnormality of the gastrointestinal tract	5111	PCNA	OMIM:615919
HP:0012719	Functional abnormality of the gastrointestinal tract	4758	NEU1	ORPHA:93399
HP:0012719	Functional abnormality of the gastrointestinal tract	79581	SLC52A2	OMIM:614707
HP:0012719	Functional abnormality of the gastrointestinal tract	5660	PSAP	OMIM:249900
HP:0012719	Functional abnormality of the gastrointestinal tract	4281	MID1	OMIM:300000
HP:0012719	Functional abnormality of the gastrointestinal tract	4281	MID1	ORPHA:2745
HP:0012719	Functional abnormality of the gastrointestinal tract	10324	KLHL41	ORPHA:171433
HP:0012719	Functional abnormality of the gastrointestinal tract	10324	KLHL41	ORPHA:171430
HP:0012719	Functional abnormality of the gastrointestinal tract	131377	KLHL40	ORPHA:171430
HP:0012719	Functional abnormality of the gastrointestinal tract	131377	KLHL40	OMIM:615348
HP:0012719	Functional abnormality of the gastrointestinal tract	56203	LMOD3	ORPHA:171430
HP:0012719	Functional abnormality of the gastrointestinal tract	4649	MYO9A	OMIM:618198
HP:0012719	Functional abnormality of the gastrointestinal tract	4649	MYO9A	ORPHA:98914
HP:0012719	Functional abnormality of the gastrointestinal tract	271	AMPD2	OMIM:615809
HP:0012719	Functional abnormality of the gastrointestinal tract	3119	HLA-DQB1	ORPHA:930
HP:0012719	Functional abnormality of the gastrointestinal tract	9244	CRLF1	ORPHA:930
HP:0012719	Functional abnormality of the gastrointestinal tract	3117	HLA-DQA1	ORPHA:930
HP:0012719	Functional abnormality of the gastrointestinal tract	4842	NOS1	ORPHA:930
HP:0012719	Functional abnormality of the gastrointestinal tract	7298	TYMS	OMIM:620040
HP:0012719	Functional abnormality of the gastrointestinal tract	2483	FRG1	OMIM:158900
HP:0012719	Functional abnormality of the gastrointestinal tract	729359	PLIN4	OMIM:601846
HP:0012719	Functional abnormality of the gastrointestinal tract	64207	IRF2BPL	OMIM:618088
HP:0012719	Functional abnormality of the gastrointestinal tract	146862	UNC45B	OMIM:619178
HP:0012719	Functional abnormality of the gastrointestinal tract	5119	CHMP1A	OMIM:614961
HP:0012719	Functional abnormality of the gastrointestinal tract	23522	KAT6B	OMIM:606170
HP:0012719	Functional abnormality of the gastrointestinal tract	7555	CNBP	ORPHA:606
HP:0012719	Functional abnormality of the gastrointestinal tract	9570	GOSR2	OMIM:620166
HP:0012719	Functional abnormality of the gastrointestinal tract	4151	MB	OMIM:620286
HP:0012719	Functional abnormality of the gastrointestinal tract	2332	FMR1	ORPHA:93256
HP:0012719	Functional abnormality of the gastrointestinal tract	26278	SACS	ORPHA:98
HP:0012719	Functional abnormality of the gastrointestinal tract	9839	ZEB2	ORPHA:261552
HP:0012719	Functional abnormality of the gastrointestinal tract	9839	ZEB2	ORPHA:261537
HP:0012719	Functional abnormality of the gastrointestinal tract	57190	SELENON	ORPHA:2020
HP:0012719	Functional abnormality of the gastrointestinal tract	4633	MYL2	ORPHA:2020
HP:0012719	Functional abnormality of the gastrointestinal tract	3679	ITGA7	ORPHA:2020
HP:0012719	Functional abnormality of the gastrointestinal tract	9200	HACD1	ORPHA:2020
HP:0012719	Functional abnormality of the gastrointestinal tract	51776	MAP3K20	ORPHA:2020
HP:0012719	Functional abnormality of the gastrointestinal tract	79152	FA2H	ORPHA:329308
HP:0012719	Functional abnormality of the gastrointestinal tract	23400	ATP13A2	ORPHA:306674
HP:0012719	Functional abnormality of the gastrointestinal tract	23400	ATP13A2	OMIM:606693
HP:0012719	Functional abnormality of the gastrointestinal tract	7156	TOP3A	OMIM:618098
HP:0012719	Functional abnormality of the gastrointestinal tract	1641	DCX	ORPHA:2148
HP:0012719	Functional abnormality of the gastrointestinal tract	60	ACTB	OMIM:607371
HP:0012719	Functional abnormality of the gastrointestinal tract	60	ACTB	ORPHA:79107
HP:0012719	Functional abnormality of the gastrointestinal tract	6662	SOX9	ORPHA:718
HP:0012719	Functional abnormality of the gastrointestinal tract	1600	DAB1	OMIM:615945
HP:0012719	Functional abnormality of the gastrointestinal tract	113278	SLC52A3	OMIM:211530
HP:0012719	Functional abnormality of the gastrointestinal tract	113278	SLC52A3	OMIM:211500
HP:0012719	Functional abnormality of the gastrointestinal tract	5251	PHEX	ORPHA:89936
HP:0012719	Functional abnormality of the gastrointestinal tract	23533	PIK3R5	ORPHA:64753
HP:0012719	Functional abnormality of the gastrointestinal tract	23064	SETX	ORPHA:64753
HP:0012719	Functional abnormality of the gastrointestinal tract	23064	SETX	OMIM:606002
HP:0012719	Functional abnormality of the gastrointestinal tract	3211	HOXB1	OMIM:614744
HP:0012719	Functional abnormality of the gastrointestinal tract	6507	SLC1A3	ORPHA:2131
HP:0012719	Functional abnormality of the gastrointestinal tract	477	ATP1A2	ORPHA:2131
HP:0012719	Functional abnormality of the gastrointestinal tract	146057	TTBK2	ORPHA:98767
HP:0012719	Functional abnormality of the gastrointestinal tract	3748	KCNC3	ORPHA:98768
HP:0012719	Functional abnormality of the gastrointestinal tract	9289	ADGRG1	ORPHA:98889
HP:0012719	Functional abnormality of the gastrointestinal tract	27286	SRPX2	ORPHA:98889
HP:0012719	Functional abnormality of the gastrointestinal tract	11128	POLR3A	OMIM:264090
HP:0012719	Functional abnormality of the gastrointestinal tract	11128	POLR3A	ORPHA:447896
HP:0012719	Functional abnormality of the gastrointestinal tract	11128	POLR3A	OMIM:607694
HP:0012719	Functional abnormality of the gastrointestinal tract	80704	SLC19A3	OMIM:607483
HP:0012719	Functional abnormality of the gastrointestinal tract	80025	PANK2	OMIM:234200
HP:0012719	Functional abnormality of the gastrointestinal tract	80025	PANK2	ORPHA:216873
HP:0012719	Functional abnormality of the gastrointestinal tract	80025	PANK2	ORPHA:216866
HP:0012719	Functional abnormality of the gastrointestinal tract	92667	MGME1	ORPHA:352447
HP:0012719	Functional abnormality of the gastrointestinal tract	6558	SLC12A2	OMIM:619083
HP:0012719	Functional abnormality of the gastrointestinal tract	724066	ATXN8	ORPHA:98760
HP:0012719	Functional abnormality of the gastrointestinal tract	724066	ATXN8	OMIM:608768
HP:0012719	Functional abnormality of the gastrointestinal tract	492	ATP2B3	OMIM:302500
HP:0012719	Functional abnormality of the gastrointestinal tract	3251	HPRT1	OMIM:300322
HP:0012719	Functional abnormality of the gastrointestinal tract	3208	HPCA	OMIM:224500
HP:0012719	Functional abnormality of the gastrointestinal tract	10280	SIGMAR1	ORPHA:300605
HP:0012719	Functional abnormality of the gastrointestinal tract	10558	SPTLC1	ORPHA:300605
HP:0012719	Functional abnormality of the gastrointestinal tract	2934	GSN	ORPHA:85448
HP:0012719	Functional abnormality of the gastrointestinal tract	255928	SYT14	ORPHA:284271
HP:0012719	Functional abnormality of the gastrointestinal tract	255928	SYT14	OMIM:614229
HP:0012719	Functional abnormality of the gastrointestinal tract	9409	PEX16	OMIM:614877
HP:0012719	Functional abnormality of the gastrointestinal tract	9440	MED17	OMIM:613668
HP:0012719	Functional abnormality of the gastrointestinal tract	2263	FGFR2	ORPHA:2363
HP:0012719	Functional abnormality of the gastrointestinal tract	2261	FGFR3	ORPHA:2363
HP:0012719	Functional abnormality of the gastrointestinal tract	2255	FGF10	ORPHA:2363
HP:0012719	Functional abnormality of the gastrointestinal tract	7443	VRK1	OMIM:607596
HP:0012719	Functional abnormality of the gastrointestinal tract	8314	BAP1	ORPHA:50251
HP:0012719	Functional abnormality of the gastrointestinal tract	6310	ATXN1	ORPHA:98755
HP:0012719	Functional abnormality of the gastrointestinal tract	6310	ATXN1	OMIM:164400
HP:0012719	Functional abnormality of the gastrointestinal tract	10133	OPTN	OMIM:613435
HP:0012719	Functional abnormality of the gastrointestinal tract	10133	OPTN	ORPHA:803
HP:0012719	Functional abnormality of the gastrointestinal tract	50628	GEMIN4	OMIM:617913
HP:0012719	Functional abnormality of the gastrointestinal tract	91574	MTRFR	OMIM:613559
HP:0012719	Functional abnormality of the gastrointestinal tract	85021	REPS1	OMIM:617916
HP:0012719	Functional abnormality of the gastrointestinal tract	3752	KCND3	OMIM:607346
HP:0012719	Functional abnormality of the gastrointestinal tract	25978	CHMP2B	ORPHA:803
HP:0012719	Functional abnormality of the gastrointestinal tract	3178	HNRNPA1	ORPHA:803
HP:0012719	Functional abnormality of the gastrointestinal tract	8148	TAF15	ORPHA:803
HP:0012719	Functional abnormality of the gastrointestinal tract	5445	PON2	ORPHA:803
HP:0012719	Functional abnormality of the gastrointestinal tract	9217	VAPB	ORPHA:803
HP:0012719	Functional abnormality of the gastrointestinal tract	9217	VAPB	OMIM:608627
HP:0012719	Functional abnormality of the gastrointestinal tract	5630	PRPH	ORPHA:803
HP:0012719	Functional abnormality of the gastrointestinal tract	5630	PRPH	OMIM:105400
HP:0012719	Functional abnormality of the gastrointestinal tract	55830	GLT8D1	ORPHA:803
HP:0012719	Functional abnormality of the gastrointestinal tract	755	CFAP410	ORPHA:803
HP:0012719	Functional abnormality of the gastrointestinal tract	10891	PPARGC1A	ORPHA:803
HP:0012719	Functional abnormality of the gastrointestinal tract	6647	SOD1	ORPHA:803
HP:0012719	Functional abnormality of the gastrointestinal tract	6647	SOD1	OMIM:105400
HP:0012719	Functional abnormality of the gastrointestinal tract	1639	DCTN1	ORPHA:803
HP:0012719	Functional abnormality of the gastrointestinal tract	1639	DCTN1	OMIM:105400
HP:0012719	Functional abnormality of the gastrointestinal tract	9896	FIG4	ORPHA:803
HP:0012719	Functional abnormality of the gastrointestinal tract	5444	PON1	ORPHA:803
HP:0012719	Functional abnormality of the gastrointestinal tract	5446	PON3	ORPHA:803
HP:0012719	Functional abnormality of the gastrointestinal tract	4744	NEFH	ORPHA:803
HP:0012719	Functional abnormality of the gastrointestinal tract	4744	NEFH	OMIM:105400
HP:0012719	Functional abnormality of the gastrointestinal tract	283	ANG	ORPHA:803
HP:0012719	Functional abnormality of the gastrointestinal tract	2733	GLE1	ORPHA:803
HP:0012719	Functional abnormality of the gastrointestinal tract	1610	DAO	ORPHA:803
HP:0012719	Functional abnormality of the gastrointestinal tract	2066	ERBB4	ORPHA:803
HP:0012719	Functional abnormality of the gastrointestinal tract	311	ANXA11	ORPHA:803
HP:0012719	Functional abnormality of the gastrointestinal tract	311	ANXA11	OMIM:617839
HP:0012719	Functional abnormality of the gastrointestinal tract	23025	UNC13A	ORPHA:803
HP:0012719	Functional abnormality of the gastrointestinal tract	899	CCNF	ORPHA:803
HP:0012719	Functional abnormality of the gastrointestinal tract	6509	SLC1A4	ORPHA:447997
HP:0012719	Functional abnormality of the gastrointestinal tract	6314	ATXN7	ORPHA:94147
HP:0012719	Functional abnormality of the gastrointestinal tract	6314	ATXN7	OMIM:164500
HP:0012719	Functional abnormality of the gastrointestinal tract	2776	GNAQ	ORPHA:3205
HP:0012719	Functional abnormality of the gastrointestinal tract	25793	FBXO7	ORPHA:171695
HP:0012719	Functional abnormality of the gastrointestinal tract	51067	YARS2	OMIM:613561
HP:0012719	Functional abnormality of the gastrointestinal tract	7407	VARS1	OMIM:617802
HP:0012719	Functional abnormality of the gastrointestinal tract	284119	CAVIN1	OMIM:613327
HP:0012719	Functional abnormality of the gastrointestinal tract	10382	TUBB4A	OMIM:128101
HP:0012719	Functional abnormality of the gastrointestinal tract	10382	TUBB4A	ORPHA:98805
HP:0012719	Functional abnormality of the gastrointestinal tract	1861	TOR1A	OMIM:128100
HP:0012719	Functional abnormality of the gastrointestinal tract	54704	PDP1	OMIM:608782
HP:0012719	Functional abnormality of the gastrointestinal tract	1288	COL4A6	ORPHA:1018
HP:0012719	Functional abnormality of the gastrointestinal tract	1287	COL4A5	ORPHA:1018
HP:0012719	Functional abnormality of the gastrointestinal tract	55906	ZC4H2	OMIM:301041
HP:0012719	Functional abnormality of the gastrointestinal tract	2982	GUCY1A1	OMIM:615750
HP:0012719	Functional abnormality of the gastrointestinal tract	29926	GMPPA	OMIM:615510
HP:0012719	Functional abnormality of the gastrointestinal tract	54832	VPS13C	OMIM:616840
HP:0012719	Functional abnormality of the gastrointestinal tract	23394	ADNP	OMIM:615873
HP:0012719	Functional abnormality of the gastrointestinal tract	57704	GBA2	ORPHA:352641
HP:0012719	Functional abnormality of the gastrointestinal tract	79848	CSPP1	OMIM:615636
HP:0012719	Functional abnormality of the gastrointestinal tract	6328	SCN3A	OMIM:617938
HP:0012719	Functional abnormality of the gastrointestinal tract	79587	CARS2	ORPHA:477774
HP:0012719	Functional abnormality of the gastrointestinal tract	10157	AASS	ORPHA:2203
HP:0012719	Functional abnormality of the gastrointestinal tract	2782	GNB1	OMIM:616973
HP:0012719	Functional abnormality of the gastrointestinal tract	79644	SRD5A3	OMIM:612379
HP:0012719	Functional abnormality of the gastrointestinal tract	27235	COQ2	OMIM:607426
HP:0012719	Functional abnormality of the gastrointestinal tract	25953	PNKD	OMIM:118800
HP:0012719	Functional abnormality of the gastrointestinal tract	8867	SYNJ1	OMIM:615530
HP:0012719	Functional abnormality of the gastrointestinal tract	4358	MPV17	OMIM:256810
HP:0012719	Functional abnormality of the gastrointestinal tract	2058	EPRS1	OMIM:617951
HP:0012719	Functional abnormality of the gastrointestinal tract	80746	TSEN2	OMIM:612389
HP:0012719	Functional abnormality of the gastrointestinal tract	23317	DNAJC13	ORPHA:411602
HP:0012719	Functional abnormality of the gastrointestinal tract	1981	EIF4G1	ORPHA:411602
HP:0012719	Functional abnormality of the gastrointestinal tract	55737	VPS35	ORPHA:411602
HP:0012719	Functional abnormality of the gastrointestinal tract	120892	LRRK2	ORPHA:411602
HP:0012719	Functional abnormality of the gastrointestinal tract	26058	GIGYF2	ORPHA:411602
HP:0012719	Functional abnormality of the gastrointestinal tract	51008	ASCC1	OMIM:616867
HP:0012719	Functional abnormality of the gastrointestinal tract	9325	TRIP4	OMIM:616866
HP:0012719	Functional abnormality of the gastrointestinal tract	7849	PAX8	ORPHA:95712
HP:0012719	Functional abnormality of the gastrointestinal tract	1482	NKX2-5	ORPHA:95712
HP:0012719	Functional abnormality of the gastrointestinal tract	128989	TANGO2	ORPHA:480864
HP:0012719	Functional abnormality of the gastrointestinal tract	5582	PRKCG	OMIM:605361
HP:0012719	Functional abnormality of the gastrointestinal tract	3418	IDH2	ORPHA:163634
HP:0012719	Functional abnormality of the gastrointestinal tract	3417	IDH1	ORPHA:163634
HP:0012719	Functional abnormality of the gastrointestinal tract	59336	PRDM13	OMIM:619909
HP:0012719	Functional abnormality of the gastrointestinal tract	79784	MYH14	ORPHA:397744
HP:0012719	Functional abnormality of the gastrointestinal tract	1103	CHAT	OMIM:254210
HP:0012719	Functional abnormality of the gastrointestinal tract	1103	CHAT	ORPHA:98914
HP:0012719	Functional abnormality of the gastrointestinal tract	84617	TUBB6	OMIM:617732
HP:0012719	Functional abnormality of the gastrointestinal tract	23556	PIGN	ORPHA:280633
HP:0012719	Functional abnormality of the gastrointestinal tract	2670	GFAP	ORPHA:363722
HP:0012719	Functional abnormality of the gastrointestinal tract	2670	GFAP	ORPHA:363717
HP:0012719	Functional abnormality of the gastrointestinal tract	122553	TRAPPC6B	OMIM:617862
HP:0012719	Functional abnormality of the gastrointestinal tract	28957	MRPS28	OMIM:618958
HP:0012719	Functional abnormality of the gastrointestinal tract	1305	COL13A1	ORPHA:98914
HP:0012719	Functional abnormality of the gastrointestinal tract	6576	SLC25A1	ORPHA:98914
HP:0012719	Functional abnormality of the gastrointestinal tract	375790	AGRN	ORPHA:98914
HP:0012719	Functional abnormality of the gastrointestinal tract	6572	SLC18A3	ORPHA:98914
HP:0012719	Functional abnormality of the gastrointestinal tract	6616	SNAP25	ORPHA:98914
HP:0012719	Functional abnormality of the gastrointestinal tract	8292	COLQ	ORPHA:98915
HP:0012719	Functional abnormality of the gastrointestinal tract	8292	COLQ	OMIM:603034
HP:0012719	Functional abnormality of the gastrointestinal tract	3913	LAMB2	ORPHA:98915
HP:0012719	Functional abnormality of the gastrointestinal tract	51	ACOX1	OMIM:264470
HP:0012719	Functional abnormality of the gastrointestinal tract	51	ACOX1	OMIM:618960
HP:0012719	Functional abnormality of the gastrointestinal tract	10577	NPC2	OMIM:607625
HP:0012719	Functional abnormality of the gastrointestinal tract	8913	CACNA1G	ORPHA:458803
HP:0012719	Functional abnormality of the gastrointestinal tract	8913	CACNA1G	OMIM:616795
HP:0012719	Functional abnormality of the gastrointestinal tract	6651	SON	ORPHA:500150
HP:0012719	Functional abnormality of the gastrointestinal tract	22943	DKK1	ORPHA:268882
HP:0012719	Functional abnormality of the gastrointestinal tract	7515	XRCC1	OMIM:617633
HP:0012719	Functional abnormality of the gastrointestinal tract	57731	SPTBN4	OMIM:617519
HP:0012719	Functional abnormality of the gastrointestinal tract	4359	MPZ	OMIM:607736
HP:0012719	Functional abnormality of the gastrointestinal tract	4747	NEFL	OMIM:607734
HP:0012719	Functional abnormality of the gastrointestinal tract	9373	PLAA	OMIM:617527
HP:0012719	Functional abnormality of the gastrointestinal tract	367	AR	OMIM:313200
HP:0012719	Functional abnormality of the gastrointestinal tract	8367	H4C5	OMIM:619950
HP:0012719	Functional abnormality of the gastrointestinal tract	340533	NEXMIF	OMIM:300912
HP:0012719	Functional abnormality of the gastrointestinal tract	340533	NEXMIF	ORPHA:85277
HP:0012719	Functional abnormality of the gastrointestinal tract	57128	LYRM4	OMIM:615595
HP:0012719	Functional abnormality of the gastrointestinal tract	8518	ELP1	ORPHA:1764
HP:0012719	Functional abnormality of the gastrointestinal tract	8518	ELP1	OMIM:223900
HP:0012719	Functional abnormality of the gastrointestinal tract	8425	LTBP4	OMIM:613177
HP:0012719	Functional abnormality of the gastrointestinal tract	1161	ERCC8	ORPHA:90324
HP:0012719	Functional abnormality of the gastrointestinal tract	2074	ERCC6	ORPHA:90324
HP:0012719	Functional abnormality of the gastrointestinal tract	115908	CTHRC1	OMIM:614266
HP:0012719	Functional abnormality of the gastrointestinal tract	4481	MSR1	OMIM:614266
HP:0012719	Functional abnormality of the gastrointestinal tract	4897	NRCAM	OMIM:619833
HP:0012719	Functional abnormality of the gastrointestinal tract	81857	MED25	OMIM:616449
HP:0012719	Functional abnormality of the gastrointestinal tract	9786	KIAA0586	ORPHA:397715
HP:0012719	Functional abnormality of the gastrointestinal tract	7259	TSPYL1	OMIM:608800
HP:0012719	Functional abnormality of the gastrointestinal tract	7259	TSPYL1	ORPHA:168593
HP:0012719	Functional abnormality of the gastrointestinal tract	116931	MED12L	OMIM:618872
HP:0012719	Functional abnormality of the gastrointestinal tract	161582	DNAAF4	OMIM:615482
HP:0012719	Functional abnormality of the gastrointestinal tract	3020	H3-3A	OMIM:619720
HP:0012719	Functional abnormality of the gastrointestinal tract	3021	H3-3B	OMIM:619721
HP:0012719	Functional abnormality of the gastrointestinal tract	80816	ASXL3	OMIM:615485
HP:0012719	Functional abnormality of the gastrointestinal tract	283489	CHAMP1	OMIM:616579
HP:0012719	Functional abnormality of the gastrointestinal tract	8239	USP9X	OMIM:300919
HP:0012719	Functional abnormality of the gastrointestinal tract	166378	AFG2A	OMIM:616577
HP:0012719	Functional abnormality of the gastrointestinal tract	84520	GON7	OMIM:619603
HP:0012719	Functional abnormality of the gastrointestinal tract	6660	SOX5	ORPHA:313892
HP:0012719	Functional abnormality of the gastrointestinal tract	535	ATP6V0A1	OMIM:619971
HP:0012719	Functional abnormality of the gastrointestinal tract	3190	HNRNPK	OMIM:616580
HP:0012719	Functional abnormality of the gastrointestinal tract	816	CAMK2B	OMIM:617799
HP:0012719	Functional abnormality of the gastrointestinal tract	1183	CLCN4	ORPHA:485350
HP:0012719	Functional abnormality of the gastrointestinal tract	5832	ALDH18A1	OMIM:601162
HP:0012719	Functional abnormality of the gastrointestinal tract	5832	ALDH18A1	ORPHA:447757
HP:0012719	Functional abnormality of the gastrointestinal tract	1277	COL1A1	ORPHA:287
HP:0012719	Functional abnormality of the gastrointestinal tract	1289	COL5A1	ORPHA:287
HP:0012719	Functional abnormality of the gastrointestinal tract	1290	COL5A2	ORPHA:287
HP:0012719	Functional abnormality of the gastrointestinal tract	7020	TFAP2A	OMIM:113620
HP:0012719	Functional abnormality of the gastrointestinal tract	10484	SEC23A	OMIM:607812
HP:0012719	Functional abnormality of the gastrointestinal tract	22872	SEC31A	OMIM:618651
HP:0012719	Functional abnormality of the gastrointestinal tract	3737	KCNA2	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	1759	DNM1	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	8120	AP3B2	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	523	ATP6V1A	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	10991	SLC38A3	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	10991	SLC38A3	OMIM:619881
HP:0012719	Functional abnormality of the gastrointestinal tract	51343	FZR1	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	3747	KCNC2	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	1917	EEF1A2	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	2561	GABRB2	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	8831	SYNGAP1	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	2558	GABRA5	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	116150	NUS1	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	1213	CLTC	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	1213	CLTC	OMIM:617854
HP:0012719	Functional abnormality of the gastrointestinal tract	51741	WWOX	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	23334	SZT2	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	348980	HCN1	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	25977	NECAP1	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	23241	PACS2	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	16	AARS1	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	6334	SCN8A	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	2555	GABRA2	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	55152	DALRD3	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	26999	CYFIP2	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	4915	NTRK2	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	25973	PARS2	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	23097	CDK19	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	2257	FGF12	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	5530	PPP3CA	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	22906	TRAK1	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	2566	GABRG2	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	7532	YWHAG	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	79876	UBA5	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	79876	UBA5	OMIM:617132
HP:0012719	Functional abnormality of the gastrointestinal tract	781	CACNA2D1	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	10659	CELF2	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	774	CACNA1B	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	774	CACNA1B	OMIM:618497
HP:0012719	Functional abnormality of the gastrointestinal tract	51412	ACTL6B	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	2290	FOXG1	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	2290	FOXG1	ORPHA:261144
HP:0012719	Functional abnormality of the gastrointestinal tract	2290	FOXG1	OMIM:613454
HP:0012719	Functional abnormality of the gastrointestinal tract	6506	SLC1A2	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	3745	KCNB1	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	284111	SLC13A5	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	22866	CNKSR2	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	6323	SCN1A	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	79947	DHDDS	ORPHA:442835
HP:0012719	Functional abnormality of the gastrointestinal tract	3981	LIG4	ORPHA:235
HP:0012719	Functional abnormality of the gastrointestinal tract	54888	NSUN2	ORPHA:235
HP:0012719	Functional abnormality of the gastrointestinal tract	9895	TECPR2	OMIM:615031
HP:0012719	Functional abnormality of the gastrointestinal tract	8493	PPM1D	OMIM:617450
HP:0012719	Functional abnormality of the gastrointestinal tract	23126	POGZ	OMIM:616364
HP:0012719	Functional abnormality of the gastrointestinal tract	23126	POGZ	ORPHA:468678
HP:0012719	Functional abnormality of the gastrointestinal tract	27125	AFF4	OMIM:616368
HP:0012719	Functional abnormality of the gastrointestinal tract	27125	AFF4	ORPHA:444077
HP:0012719	Functional abnormality of the gastrointestinal tract	1660	DHX9	OMIM:620988
HP:0012719	Functional abnormality of the gastrointestinal tract	51692	CPSF3	OMIM:619876
HP:0012719	Functional abnormality of the gastrointestinal tract	8021	NUP214	OMIM:618426
HP:0012719	Functional abnormality of the gastrointestinal tract	6134	RPL10	ORPHA:459070
HP:0012719	Functional abnormality of the gastrointestinal tract	6134	RPL10	OMIM:300998
HP:0012719	Functional abnormality of the gastrointestinal tract	6134	RPL10	ORPHA:435938
HP:0012719	Functional abnormality of the gastrointestinal tract	415	ARSL	ORPHA:79345
HP:0012719	Functional abnormality of the gastrointestinal tract	79796	ALG9	ORPHA:79328
HP:0012719	Functional abnormality of the gastrointestinal tract	4247	MGAT2	ORPHA:79329
HP:0012719	Functional abnormality of the gastrointestinal tract	6804	STX1A	ORPHA:586
HP:0012719	Functional abnormality of the gastrointestinal tract	6804	STX1A	ORPHA:904
HP:0012719	Functional abnormality of the gastrointestinal tract	2947	GSTM3	ORPHA:586
HP:0012719	Functional abnormality of the gastrointestinal tract	7040	TGFB1	ORPHA:586
HP:0012719	Functional abnormality of the gastrointestinal tract	2729	GCLC	ORPHA:586
HP:0012719	Functional abnormality of the gastrointestinal tract	1084	CEACAM3	ORPHA:586
HP:0012719	Functional abnormality of the gastrointestinal tract	6556	SLC11A1	ORPHA:586
HP:0012719	Functional abnormality of the gastrointestinal tract	51164	DCTN4	ORPHA:586
HP:0012719	Functional abnormality of the gastrointestinal tract	3783	KCNN4	ORPHA:586
HP:0012719	Functional abnormality of the gastrointestinal tract	4282	MIF	ORPHA:586
HP:0012719	Functional abnormality of the gastrointestinal tract	1909	EDNRA	ORPHA:586
HP:0012719	Functional abnormality of the gastrointestinal tract	3162	HMOX1	ORPHA:586
HP:0012719	Functional abnormality of the gastrointestinal tract	115019	SLC26A9	ORPHA:586
HP:0012719	Functional abnormality of the gastrointestinal tract	3077	HFE	ORPHA:586
HP:0012719	Functional abnormality of the gastrointestinal tract	11254	SLC6A14	ORPHA:586
HP:0012719	Functional abnormality of the gastrointestinal tract	5265	SERPINA1	ORPHA:586
HP:0012719	Functional abnormality of the gastrointestinal tract	1080	CFTR	ORPHA:586
HP:0012719	Functional abnormality of the gastrointestinal tract	22802	CLCA4	ORPHA:586
HP:0012719	Functional abnormality of the gastrointestinal tract	4680	CEACAM6	ORPHA:586
HP:0012719	Functional abnormality of the gastrointestinal tract	3785	KCNQ2	ORPHA:1949
HP:0012719	Functional abnormality of the gastrointestinal tract	3786	KCNQ3	ORPHA:1949
HP:0012719	Functional abnormality of the gastrointestinal tract	9772	TMEM94	OMIM:618316
HP:0012719	Functional abnormality of the gastrointestinal tract	51341	ZBTB7A	OMIM:619769
HP:0012719	Functional abnormality of the gastrointestinal tract	9338	TCEAL1	OMIM:301094
HP:0012719	Functional abnormality of the gastrointestinal tract	10743	RAI1	ORPHA:1713
HP:0012719	Functional abnormality of the gastrointestinal tract	10743	RAI1	ORPHA:819
HP:0012719	Functional abnormality of the gastrointestinal tract	10743	RAI1	OMIM:182290
HP:0012719	Functional abnormality of the gastrointestinal tract	23162	MAPK8IP3	OMIM:618443
HP:0012719	Functional abnormality of the gastrointestinal tract	54941	RNF125	OMIM:616260
HP:0012719	Functional abnormality of the gastrointestinal tract	197258	FCSK	OMIM:618324
HP:0012719	Functional abnormality of the gastrointestinal tract	79989	IFT56	OMIM:619534
HP:0012719	Functional abnormality of the gastrointestinal tract	85365	ALG2	OMIM:607906
HP:0012719	Functional abnormality of the gastrointestinal tract	259232	NALCN	OMIM:616266
HP:0012719	Functional abnormality of the gastrointestinal tract	259232	NALCN	ORPHA:562528
HP:0012719	Functional abnormality of the gastrointestinal tract	259232	NALCN	OMIM:615419
HP:0012719	Functional abnormality of the gastrointestinal tract	25836	NIPBL	OMIM:122470
HP:0012719	Functional abnormality of the gastrointestinal tract	25836	NIPBL	ORPHA:199
HP:0012719	Functional abnormality of the gastrointestinal tract	79087	ALG12	ORPHA:79324
HP:0012719	Functional abnormality of the gastrointestinal tract	2200	FBN1	OMIM:184900
HP:0012719	Functional abnormality of the gastrointestinal tract	2200	FBN1	ORPHA:2462
HP:0012719	Functional abnormality of the gastrointestinal tract	3756	KCNH1	OMIM:611816
HP:0012719	Functional abnormality of the gastrointestinal tract	3756	KCNH1	OMIM:135500
HP:0012719	Functional abnormality of the gastrointestinal tract	25970	SH2B1	ORPHA:261197
HP:0012719	Functional abnormality of the gastrointestinal tract	1387	CREBBP	OMIM:618332
HP:0012719	Functional abnormality of the gastrointestinal tract	1387	CREBBP	ORPHA:353281
HP:0012719	Functional abnormality of the gastrointestinal tract	1387	CREBBP	OMIM:180849
HP:0012719	Functional abnormality of the gastrointestinal tract	1387	CREBBP	ORPHA:353277
HP:0012719	Functional abnormality of the gastrointestinal tract	8621	CDK13	OMIM:617360
HP:0012719	Functional abnormality of the gastrointestinal tract	58497	PRUNE1	ORPHA:544469
HP:0012719	Functional abnormality of the gastrointestinal tract	1642	DDB1	OMIM:619426
HP:0012719	Functional abnormality of the gastrointestinal tract	6857	SYT1	OMIM:618218
HP:0012719	Functional abnormality of the gastrointestinal tract	6857	SYT1	ORPHA:522077
HP:0012719	Functional abnormality of the gastrointestinal tract	6778	STAT6	OMIM:620532
HP:0012719	Functional abnormality of the gastrointestinal tract	9900	SV2A	OMIM:620772
HP:0012719	Functional abnormality of the gastrointestinal tract	6477	SIAH1	OMIM:619314
HP:0012719	Functional abnormality of the gastrointestinal tract	4000	LMNA	OMIM:619793
HP:0012719	Functional abnormality of the gastrointestinal tract	6885	MAP3K7	OMIM:617137
HP:0012719	Functional abnormality of the gastrointestinal tract	6885	MAP3K7	OMIM:157800
HP:0012719	Functional abnormality of the gastrointestinal tract	55869	HDAC8	OMIM:300882
HP:0012719	Functional abnormality of the gastrointestinal tract	55869	HDAC8	ORPHA:199
HP:0012719	Functional abnormality of the gastrointestinal tract	6299	SALL1	OMIM:107480
HP:0012719	Functional abnormality of the gastrointestinal tract	64801	ARV1	OMIM:617020
HP:0012719	Functional abnormality of the gastrointestinal tract	29998	BICRA	OMIM:619325
HP:0012719	Functional abnormality of the gastrointestinal tract	63895	PIEZO2	OMIM:617146
HP:0012719	Functional abnormality of the gastrointestinal tract	2033	EP300	ORPHA:353284
HP:0012719	Functional abnormality of the gastrointestinal tract	2033	EP300	OMIM:180849
HP:0012719	Functional abnormality of the gastrointestinal tract	443	ASPA	ORPHA:314911
HP:0012719	Functional abnormality of the gastrointestinal tract	4952	OCRL	ORPHA:534
HP:0012719	Functional abnormality of the gastrointestinal tract	9126	SMC3	OMIM:610759
HP:0012719	Functional abnormality of the gastrointestinal tract	9126	SMC3	ORPHA:199
HP:0012719	Functional abnormality of the gastrointestinal tract	55777	MBD5	OMIM:156200
HP:0012719	Functional abnormality of the gastrointestinal tract	112939	NACC1	OMIM:617393
HP:0012719	Functional abnormality of the gastrointestinal tract	4998	ORC1	OMIM:224690
HP:0012719	Functional abnormality of the gastrointestinal tract	54496	PRMT7	OMIM:617157
HP:0012719	Functional abnormality of the gastrointestinal tract	54551	MAGEL2	ORPHA:398069
HP:0012719	Functional abnormality of the gastrointestinal tract	54551	MAGEL2	OMIM:615547
HP:0012719	Functional abnormality of the gastrointestinal tract	5831	PYCR1	OMIM:612940
HP:0012719	Functional abnormality of the gastrointestinal tract	23476	BRD4	OMIM:620568
HP:0012719	Functional abnormality of the gastrointestinal tract	23476	BRD4	ORPHA:199
HP:0012719	Functional abnormality of the gastrointestinal tract	201163	FLCN	OMIM:610883
HP:0012719	Functional abnormality of the gastrointestinal tract	51079	NDUFA13	OMIM:618249
HP:0012719	Functional abnormality of the gastrointestinal tract	2778	GNAS	ORPHA:562
HP:0012719	Functional abnormality of the gastrointestinal tract	3265	HRAS	ORPHA:3071
HP:0012719	Functional abnormality of the gastrointestinal tract	7703	PCGF2	OMIM:618371
HP:0012719	Functional abnormality of the gastrointestinal tract	9496	TBX4	ORPHA:261279
HP:0012719	Functional abnormality of the gastrointestinal tract	372	ARCN1	OMIM:617164
HP:0012719	Functional abnormality of the gastrointestinal tract	8802	SUCLG1	ORPHA:17
HP:0012719	Functional abnormality of the gastrointestinal tract	3188	HNRNPH2	OMIM:300986
HP:0012719	Functional abnormality of the gastrointestinal tract	5000	ORC4	OMIM:613800
HP:0012719	Functional abnormality of the gastrointestinal tract	23594	ORC6	OMIM:613803
HP:0012719	Functional abnormality of the gastrointestinal tract	990	CDC6	OMIM:613805
HP:0012719	Functional abnormality of the gastrointestinal tract	2316	FLNA	ORPHA:75497
HP:0012719	Functional abnormality of the gastrointestinal tract	2316	FLNA	ORPHA:98892
HP:0012719	Functional abnormality of the gastrointestinal tract	37	ACADVL	OMIM:201475
HP:0012719	Functional abnormality of the gastrointestinal tract	54809	SAMD9	OMIM:617053
HP:0012719	Functional abnormality of the gastrointestinal tract	57003	CCDC47	OMIM:618268
HP:0012719	Functional abnormality of the gastrointestinal tract	10681	GNB5	OMIM:617173
HP:0012719	Functional abnormality of the gastrointestinal tract	10681	GNB5	OMIM:617182
HP:0012719	Functional abnormality of the gastrointestinal tract	10681	GNB5	ORPHA:542306
HP:0012719	Functional abnormality of the gastrointestinal tract	64840	PORCN	ORPHA:2092
HP:0012719	Functional abnormality of the gastrointestinal tract	10847	SRCAP	OMIM:619595
HP:0012719	Functional abnormality of the gastrointestinal tract	10847	SRCAP	ORPHA:2044
HP:0012719	Functional abnormality of the gastrointestinal tract	51604	PIGT	ORPHA:369837
HP:0012719	Functional abnormality of the gastrointestinal tract	246329	STAC3	ORPHA:168572
HP:0012719	Functional abnormality of the gastrointestinal tract	526	ATP6V1B2	ORPHA:79500
HP:0012719	Functional abnormality of the gastrointestinal tract	57465	TBC1D24	ORPHA:79500
HP:0012719	Functional abnormality of the gastrointestinal tract	11198	SUPT16H	OMIM:619480
HP:0012719	Functional abnormality of the gastrointestinal tract	2077	ERF	OMIM:617180
HP:0012719	Functional abnormality of the gastrointestinal tract	6872	TAF1	OMIM:300966
HP:0012719	Functional abnormality of the gastrointestinal tract	374879	ZNF699	OMIM:619488
HP:0012719	Functional abnormality of the gastrointestinal tract	4841	NONO	OMIM:300967
HP:0012719	Functional abnormality of the gastrointestinal tract	4841	NONO	ORPHA:466791
HP:0012719	Functional abnormality of the gastrointestinal tract	5058	PAK1	OMIM:618158
HP:0012719	Functional abnormality of the gastrointestinal tract	57038	RARS2	OMIM:611523
HP:0012719	Functional abnormality of the gastrointestinal tract	8911	CACNA1I	OMIM:620114
HP:0012719	Functional abnormality of the gastrointestinal tract	10551	AGR2	OMIM:620233
HP:0012719	Functional abnormality of the gastrointestinal tract	80267	EDEM3	OMIM:619493
HP:0012719	Functional abnormality of the gastrointestinal tract	1650	DDOST	ORPHA:300536
HP:0012719	Functional abnormality of the gastrointestinal tract	1650	DDOST	OMIM:614507
HP:0012719	Functional abnormality of the gastrointestinal tract	6748	SSR4	ORPHA:370927
HP:0012719	Functional abnormality of the gastrointestinal tract	4081	MAB21L1	ORPHA:495875
HP:0012719	Functional abnormality of the gastrointestinal tract	2581	GALC	ORPHA:206436
HP:0012719	Functional abnormality of the gastrointestinal tract	10079	ATP9A	OMIM:620242
HP:0012719	Functional abnormality of the gastrointestinal tract	28952	CCDC22	ORPHA:7
HP:0012719	Functional abnormality of the gastrointestinal tract	57020	VPS35L	ORPHA:7
HP:0012719	Functional abnormality of the gastrointestinal tract	23040	MYT1L	ORPHA:647799
HP:0012719	Functional abnormality of the gastrointestinal tract	27161	AGO2	OMIM:619149
HP:0012719	Functional abnormality of the gastrointestinal tract	55294	FBXW7	OMIM:620012
HP:0012719	Functional abnormality of the gastrointestinal tract	283450	HECTD4	OMIM:620250
HP:0012719	Functional abnormality of the gastrointestinal tract	8085	KMT2D	OMIM:147920
HP:0012719	Functional abnormality of the gastrointestinal tract	8085	KMT2D	OMIM:620186
HP:0012719	Functional abnormality of the gastrointestinal tract	8085	KMT2D	ORPHA:2322
HP:0012719	Functional abnormality of the gastrointestinal tract	7403	KDM6A	OMIM:147920
HP:0012719	Functional abnormality of the gastrointestinal tract	7403	KDM6A	ORPHA:2322
HP:0012719	Functional abnormality of the gastrointestinal tract	8506	CNTNAP1	OMIM:618186
HP:0012719	Functional abnormality of the gastrointestinal tract	55503	TRPV6	OMIM:618188
HP:0012719	Functional abnormality of the gastrointestinal tract	5885	RAD21	OMIM:614701
HP:0012719	Functional abnormality of the gastrointestinal tract	5885	RAD21	ORPHA:199
HP:0012719	Functional abnormality of the gastrointestinal tract	652	BMP4	ORPHA:828
HP:0012719	Functional abnormality of the gastrointestinal tract	7355	SLC35A2	ORPHA:356961
HP:0012719	Functional abnormality of the gastrointestinal tract	7355	SLC35A2	OMIM:300896
HP:0012719	Functional abnormality of the gastrointestinal tract	10274	STAG1	ORPHA:502434
HP:0012719	Functional abnormality of the gastrointestinal tract	10274	STAG1	OMIM:617635
HP:0012719	Functional abnormality of the gastrointestinal tract	64324	NSD1	ORPHA:821
HP:0012719	Functional abnormality of the gastrointestinal tract	64324	NSD1	OMIM:117550
HP:0012719	Functional abnormality of the gastrointestinal tract	10297	APC2	ORPHA:821
HP:0012719	Functional abnormality of the gastrointestinal tract	5447	POR	ORPHA:95699
HP:0012719	Functional abnormality of the gastrointestinal tract	4784	NFIX	ORPHA:447980
HP:0012719	Functional abnormality of the gastrointestinal tract	6531	SLC6A3	ORPHA:238455
HP:0012719	Functional abnormality of the gastrointestinal tract	6531	SLC6A3	OMIM:613135
HP:0012719	Functional abnormality of the gastrointestinal tract	80232	WDR26	ORPHA:513456
HP:0012719	Functional abnormality of the gastrointestinal tract	80232	WDR26	OMIM:617616
HP:0012719	Functional abnormality of the gastrointestinal tract	51506	UFC1	OMIM:618076
HP:0012719	Functional abnormality of the gastrointestinal tract	2314	FLII	ORPHA:819
HP:0012719	Functional abnormality of the gastrointestinal tract	23096	IQSEC2	ORPHA:819
HP:0012719	Functional abnormality of the gastrointestinal tract	10522	DEAF1	ORPHA:819
HP:0012719	Functional abnormality of the gastrointestinal tract	1717	DHCR7	ORPHA:818
HP:0012719	Functional abnormality of the gastrointestinal tract	1717	DHCR7	OMIM:270400
HP:0012719	Functional abnormality of the gastrointestinal tract	9915	ARNT2	OMIM:615926
HP:0012719	Functional abnormality of the gastrointestinal tract	10978	CLP1	OMIM:615803
HP:0012719	Functional abnormality of the gastrointestinal tract	429	ASCL1	ORPHA:99803
HP:0012719	Functional abnormality of the gastrointestinal tract	8929	PHOX2B	ORPHA:99803
HP:0012719	Functional abnormality of the gastrointestinal tract	1353	COX11	OMIM:620275
HP:0012719	Functional abnormality of the gastrointestinal tract	4868	NPHS1	OMIM:256300
HP:0012719	Functional abnormality of the gastrointestinal tract	6595	SMARCA2	OMIM:619293
HP:0012719	Functional abnormality of the gastrointestinal tract	3899	AFF3	OMIM:619297
HP:0012719	Functional abnormality of the gastrointestinal tract	1136	CHRNA3	OMIM:191800
HP:0012719	Functional abnormality of the gastrointestinal tract	80204	FBXO11	OMIM:618089
HP:0012719	Functional abnormality of the gastrointestinal tract	6440	SFTPC	ORPHA:2032
HP:0012719	Functional abnormality of the gastrointestinal tract	729238	SFTPA2	ORPHA:2032
HP:0012719	Functional abnormality of the gastrointestinal tract	653509	SFTPA1	ORPHA:2032
HP:0012719	Functional abnormality of the gastrointestinal tract	21	ABCA3	ORPHA:2032
HP:0012719	Functional abnormality of the gastrointestinal tract	1832	DSP	ORPHA:2032
HP:0012719	Functional abnormality of the gastrointestinal tract	727897	MUC5B	ORPHA:2032
HP:0012719	Functional abnormality of the gastrointestinal tract	10144	FAM13A	ORPHA:2032
HP:0012719	Functional abnormality of the gastrointestinal tract	23250	ATP11A	ORPHA:2032
HP:0012719	Functional abnormality of the gastrointestinal tract	91039	DPP9	ORPHA:2032
HP:0012719	Functional abnormality of the gastrointestinal tract	51750	RTEL1	ORPHA:2032
HP:0012719	Functional abnormality of the gastrointestinal tract	7012	TERC	ORPHA:2032
HP:0012719	Functional abnormality of the gastrointestinal tract	5073	PARN	ORPHA:2032
HP:0012719	Functional abnormality of the gastrointestinal tract	7015	TERT	ORPHA:2032
HP:0012719	Functional abnormality of the gastrointestinal tract	7015	TERT	OMIM:614742
HP:0012719	Functional abnormality of the gastrointestinal tract	8546	AP3B1	OMIM:608233
HP:0012719	Functional abnormality of the gastrointestinal tract	26523	AGO1	OMIM:620292
HP:0012719	Functional abnormality of the gastrointestinal tract	4212	MEIS2	OMIM:600987
HP:0012719	Functional abnormality of the gastrointestinal tract	132158	GLYCTK	OMIM:220120
HP:0012719	Functional abnormality of the gastrointestinal tract	79813	EHMT1	OMIM:610253
HP:0012719	Functional abnormality of the gastrointestinal tract	79813	EHMT1	ORPHA:261652
HP:0012719	Functional abnormality of the gastrointestinal tract	25942	SIN3A	OMIM:613406
HP:0012719	Functional abnormality of the gastrointestinal tract	7468	NSD2	OMIM:194190
HP:0012719	Functional abnormality of the gastrointestinal tract	10815	CPLX1	OMIM:194190
HP:0012719	Functional abnormality of the gastrointestinal tract	1487	CTBP1	OMIM:194190
HP:0012719	Functional abnormality of the gastrointestinal tract	53834	FGFRL1	OMIM:194190
HP:0012719	Functional abnormality of the gastrointestinal tract	3954	LETM1	OMIM:194190
HP:0012719	Functional abnormality of the gastrointestinal tract	5826	ABCD4	OMIM:614857
HP:0012719	Functional abnormality of the gastrointestinal tract	25923	ATL3	ORPHA:36386
HP:0012719	Functional abnormality of the gastrointestinal tract	9517	SPTLC2	ORPHA:36386
HP:0012719	Functional abnormality of the gastrointestinal tract	51062	ATL1	ORPHA:36386
HP:0012719	Functional abnormality of the gastrointestinal tract	375	ARF1	ORPHA:98892
HP:0012719	Functional abnormality of the gastrointestinal tract	4131	MAP1B	ORPHA:98892
HP:0012719	Functional abnormality of the gastrointestinal tract	23327	NEDD4L	ORPHA:98892
HP:0012719	Functional abnormality of the gastrointestinal tract	160418	TMTC3	ORPHA:98892
HP:0012719	Functional abnormality of the gastrointestinal tract	10564	ARFGEF2	ORPHA:98892
HP:0012719	Functional abnormality of the gastrointestinal tract	55780	ERMARD	ORPHA:98892
HP:0012719	Functional abnormality of the gastrointestinal tract	7840	ALMS1	ORPHA:64
HP:0012719	Functional abnormality of the gastrointestinal tract	56006	SMG9	OMIM:616920
HP:0012719	Functional abnormality of the gastrointestinal tract	7461	CLIP2	ORPHA:904
HP:0012719	Functional abnormality of the gastrointestinal tract	84277	DNAJC30	ORPHA:904
HP:0012719	Functional abnormality of the gastrointestinal tract	8468	FKBP6	ORPHA:904
HP:0012719	Functional abnormality of the gastrointestinal tract	5982	RFC2	ORPHA:904
HP:0012719	Functional abnormality of the gastrointestinal tract	2969	GTF2I	ORPHA:904
HP:0012719	Functional abnormality of the gastrointestinal tract	3984	LIMK1	ORPHA:904
HP:0012719	Functional abnormality of the gastrointestinal tract	9569	GTF2IRD1	ORPHA:904
HP:0012719	Functional abnormality of the gastrointestinal tract	155382	VPS37D	ORPHA:904
HP:0012719	Functional abnormality of the gastrointestinal tract	155368	METTL27	ORPHA:904
HP:0012719	Functional abnormality of the gastrointestinal tract	114049	BUD23	ORPHA:904
HP:0012719	Functional abnormality of the gastrointestinal tract	7458	EIF4H	ORPHA:904
HP:0012719	Functional abnormality of the gastrointestinal tract	84163	GTF2IRD2	ORPHA:904
HP:0012719	Functional abnormality of the gastrointestinal tract	26608	TBL2	ORPHA:904
HP:0012719	Functional abnormality of the gastrointestinal tract	653361	NCF1	ORPHA:904
HP:0012719	Functional abnormality of the gastrointestinal tract	135886	TMEM270	ORPHA:904
HP:0012719	Functional abnormality of the gastrointestinal tract	9031	BAZ1B	ORPHA:904
HP:0012719	Functional abnormality of the gastrointestinal tract	2006	ELN	ORPHA:904
HP:0012719	Functional abnormality of the gastrointestinal tract	2006	ELN	OMIM:194050
HP:0012719	Functional abnormality of the gastrointestinal tract	10056	FARSB	OMIM:613658
HP:0012719	Functional abnormality of the gastrointestinal tract	23137	SMC5	OMIM:620185
HP:0012719	Functional abnormality of the gastrointestinal tract	51611	DPH5	OMIM:620070
HP:0012719	Functional abnormality of the gastrointestinal tract	58508	KMT2C	ORPHA:261652
HP:0012719	Functional abnormality of the gastrointestinal tract	5594	MAPK1	OMIM:619087
HP:0012719	Functional abnormality of the gastrointestinal tract	23261	CAMTA1	OMIM:614756
HP:0012719	Functional abnormality of the gastrointestinal tract	10472	ZBTB18	OMIM:612337
HP:0012719	Functional abnormality of the gastrointestinal tract	51085	MLXIPL	OMIM:194050
HP:0012719	Functional abnormality of the gastrointestinal tract	3187	HNRNPH1	OMIM:620083
HP:0012719	Functional abnormality of the gastrointestinal tract	2535	FZD2	OMIM:164745
HP:0012719	Functional abnormality of the gastrointestinal tract	55023	PHIP	ORPHA:589905
HP:0012719	Functional abnormality of the gastrointestinal tract	65125	WNK1	OMIM:201300
HP:0012719	Functional abnormality of the gastrointestinal tract	54463	RETREG1	OMIM:201300
HP:0012719	Functional abnormality of the gastrointestinal tract	6335	SCN9A	OMIM:201300
HP:0012719	Functional abnormality of the gastrointestinal tract	547	KIF1A	OMIM:201300
HP:0012719	Functional abnormality of the gastrointestinal tract	667	DST	OMIM:614653
HP:0012719	Functional abnormality of the gastrointestinal tract	55690	PACS1	ORPHA:329224
HP:0012719	Functional abnormality of the gastrointestinal tract	51053	GMNN	OMIM:616835
HP:0012719	Functional abnormality of the gastrointestinal tract	10664	CTCF	OMIM:615502
HP:0012719	Functional abnormality of the gastrointestinal tract	10664	CTCF	ORPHA:363611
HP:0012719	Functional abnormality of the gastrointestinal tract	196528	ARID2	OMIM:617808
HP:0012719	Functional abnormality of the gastrointestinal tract	91949	COG7	OMIM:608779
HP:0012719	Functional abnormality of the gastrointestinal tract	9780	PIEZO1	OMIM:616843
HP:0012719	Functional abnormality of the gastrointestinal tract	100151683	RNU4ATAC	OMIM:210710
HP:0012719	Functional abnormality of the gastrointestinal tract	1280	COL2A1	ORPHA:93316
HP:0012719	Functional abnormality of the gastrointestinal tract	85358	SHANK3	OMIM:606232
HP:0012719	Functional abnormality of the gastrointestinal tract	113235	SLC46A1	ORPHA:90045
HP:0012719	Functional abnormality of the gastrointestinal tract	11151	CORO1A	OMIM:615401
HP:0012719	Functional abnormality of the gastrointestinal tract	54931	TRMT10C	OMIM:616974
HP:0012719	Functional abnormality of the gastrointestinal tract	3097	HIVEP2	OMIM:616977
HP:0012719	Functional abnormality of the gastrointestinal tract	10560	SLC19A2	OMIM:249270
HP:0012719	Functional abnormality of the gastrointestinal tract	6709	SPTAN1	OMIM:613477
HP:0012719	Functional abnormality of the gastrointestinal tract	9378	NRXN1	OMIM:614325
HP:0012719	Functional abnormality of the gastrointestinal tract	5160	PDHA1	ORPHA:79243
HP:0012719	Functional abnormality of the gastrointestinal tract	84693	MCEE	OMIM:251120
HP:0012719	Functional abnormality of the gastrointestinal tract	10943	MSL3	OMIM:301032
HP:0012719	Functional abnormality of the gastrointestinal tract	6878	TAF6	ORPHA:199
HP:0012719	Functional abnormality of the gastrointestinal tract	7874	USP7	ORPHA:500055
HP:0012719	Functional abnormality of the gastrointestinal tract	6628	SNRPB	OMIM:117650
HP:0012719	Functional abnormality of the gastrointestinal tract	29957	SLC25A24	OMIM:612289
HP:0012719	Functional abnormality of the gastrointestinal tract	80152	CENPT	OMIM:618702
HP:0012719	Functional abnormality of the gastrointestinal tract	3575	IL7R	OMIM:608971
HP:0012719	Functional abnormality of the gastrointestinal tract	6476	SI	ORPHA:35122
HP:0012719	Functional abnormality of the gastrointestinal tract	90417	KNSTRN	ORPHA:221139
HP:0012719	Functional abnormality of the gastrointestinal tract	8405	SPOP	OMIM:618829
HP:0012719	Functional abnormality of the gastrointestinal tract	83737	ITCH	OMIM:613385
HP:0012719	Functional abnormality of the gastrointestinal tract	116461	TSEN15	ORPHA:2524
HP:0012719	Functional abnormality of the gastrointestinal tract	79042	TSEN34	ORPHA:2524
HP:0012719	Functional abnormality of the gastrointestinal tract	51091	SEPSECS	ORPHA:2524
HP:0012719	Functional abnormality of the gastrointestinal tract	57688	ZSWIM6	OMIM:617865
HP:0012719	Functional abnormality of the gastrointestinal tract	2890	GRIA1	OMIM:619927
HP:0012719	Functional abnormality of the gastrointestinal tract	7291	TWIST1	OMIM:617746
HP:0012719	Functional abnormality of the gastrointestinal tract	139285	AMER1	OMIM:300373
HP:0012719	Functional abnormality of the gastrointestinal tract	440	ASNS	OMIM:615574
HP:0012719	Functional abnormality of the gastrointestinal tract	5430	POLR2A	OMIM:618603
HP:0012719	Functional abnormality of the gastrointestinal tract	9203	ZMYM3	OMIM:301111
HP:0012719	Functional abnormality of the gastrointestinal tract	29928	TIMM22	OMIM:618851
HP:0012719	Functional abnormality of the gastrointestinal tract	8803	SUCLA2	OMIM:612073
HP:0012719	Functional abnormality of the gastrointestinal tract	25871	NEPRO	OMIM:618853
HP:0012719	Functional abnormality of the gastrointestinal tract	92482	BBIP1	ORPHA:110
HP:0012719	Functional abnormality of the gastrointestinal tract	80184	CEP290	ORPHA:110
HP:0012719	Functional abnormality of the gastrointestinal tract	11020	IFT27	ORPHA:110
HP:0012719	Functional abnormality of the gastrointestinal tract	582	BBS1	ORPHA:110
HP:0012719	Functional abnormality of the gastrointestinal tract	49855	SCAPER	ORPHA:110
HP:0012719	Functional abnormality of the gastrointestinal tract	4867	NPHP1	ORPHA:110
HP:0012719	Functional abnormality of the gastrointestinal tract	51057	WDPCP	ORPHA:110
HP:0012719	Functional abnormality of the gastrointestinal tract	132320	SCLT1	ORPHA:110
HP:0012719	Functional abnormality of the gastrointestinal tract	27241	BBS9	ORPHA:110
HP:0012719	Functional abnormality of the gastrointestinal tract	84984	CEP19	ORPHA:110
HP:0012719	Functional abnormality of the gastrointestinal tract	22954	TRIM32	ORPHA:110
HP:0012719	Functional abnormality of the gastrointestinal tract	54903	MKS1	ORPHA:110
HP:0012719	Functional abnormality of the gastrointestinal tract	79738	BBS10	ORPHA:110
HP:0012719	Functional abnormality of the gastrointestinal tract	123016	TTC8	ORPHA:110
HP:0012719	Functional abnormality of the gastrointestinal tract	26160	IFT172	ORPHA:110
HP:0012719	Functional abnormality of the gastrointestinal tract	583	BBS2	ORPHA:110
HP:0012719	Functional abnormality of the gastrointestinal tract	585	BBS4	ORPHA:110
HP:0012719	Functional abnormality of the gastrointestinal tract	8195	MKKS	ORPHA:110
HP:0012719	Functional abnormality of the gastrointestinal tract	54585	LZTFL1	ORPHA:110
HP:0012719	Functional abnormality of the gastrointestinal tract	55212	BBS7	ORPHA:110
HP:0012719	Functional abnormality of the gastrointestinal tract	166379	BBS12	ORPHA:110
HP:0012719	Functional abnormality of the gastrointestinal tract	10806	SDCCAG8	ORPHA:110
HP:0012719	Functional abnormality of the gastrointestinal tract	157657	CFAP418	ORPHA:110
HP:0012719	Functional abnormality of the gastrointestinal tract	84100	ARL6	ORPHA:110
HP:0012719	Functional abnormality of the gastrointestinal tract	129880	BBS5	ORPHA:110
HP:0012719	Functional abnormality of the gastrointestinal tract	80173	IFT74	ORPHA:110
HP:0012719	Functional abnormality of the gastrointestinal tract	57680	CHD8	OMIM:615032
HP:0012719	Functional abnormality of the gastrointestinal tract	331	XIAP	OMIM:300635
HP:0012719	Functional abnormality of the gastrointestinal tract	331	XIAP	ORPHA:538934
HP:0012719	Functional abnormality of the gastrointestinal tract	4688	NCF2	OMIM:233710
HP:0012719	Functional abnormality of the gastrointestinal tract	5243	ABCB1	OMIM:612244
HP:0012719	Functional abnormality of the gastrointestinal tract	987	LRBA	OMIM:614700
HP:0012719	Functional abnormality of the gastrointestinal tract	8737	RIPK1	OMIM:618108
HP:0012719	Functional abnormality of the gastrointestinal tract	2542	SLC37A4	OMIM:232220
HP:0012719	Functional abnormality of the gastrointestinal tract	2542	SLC37A4	ORPHA:79259
HP:0012719	Functional abnormality of the gastrointestinal tract	2542	SLC37A4	OMIM:232240
HP:0012719	Functional abnormality of the gastrointestinal tract	5293	PIK3CD	OMIM:619281
HP:0012719	Functional abnormality of the gastrointestinal tract	59067	IL21	OMIM:615767
HP:0012719	Functional abnormality of the gastrointestinal tract	2165	F13B	ORPHA:331
HP:0012719	Functional abnormality of the gastrointestinal tract	2162	F13A1	ORPHA:331
HP:0012719	Functional abnormality of the gastrointestinal tract	55612	FERMT1	ORPHA:2908
HP:0012719	Functional abnormality of the gastrointestinal tract	6550	SLC9A3	OMIM:616868
HP:0012719	Functional abnormality of the gastrointestinal tract	5777	PTPN6	ORPHA:3243
HP:0012719	Functional abnormality of the gastrointestinal tract	2000	ELF4	OMIM:301074
HP:0012719	Functional abnormality of the gastrointestinal tract	64127	NOD2	OMIM:266600
HP:0012719	Functional abnormality of the gastrointestinal tract	3569	IL6	OMIM:266600
HP:0012719	Functional abnormality of the gastrointestinal tract	57511	COG6	OMIM:614576
HP:0012719	Functional abnormality of the gastrointestinal tract	345611	IRGM	OMIM:612278
HP:0012719	Functional abnormality of the gastrointestinal tract	8517	IKBKG	ORPHA:98813
HP:0012719	Functional abnormality of the gastrointestinal tract	64858	DCLRE1B	OMIM:620133
HP:0012719	Functional abnormality of the gastrointestinal tract	2395	FXN	ORPHA:95
HP:0012719	Functional abnormality of the gastrointestinal tract	5297	PI4KA	OMIM:619708
HP:0012719	Functional abnormality of the gastrointestinal tract	84665	MYPN	ORPHA:171439
HP:0012719	Functional abnormality of the gastrointestinal tract	390594	KBTBD13	ORPHA:171439
HP:0012719	Functional abnormality of the gastrointestinal tract	10667	FARS2	ORPHA:466722
HP:0012719	Functional abnormality of the gastrointestinal tract	171023	ASXL1	ORPHA:98850
HP:0012719	Functional abnormality of the gastrointestinal tract	54790	TET2	ORPHA:98850
HP:0012719	Functional abnormality of the gastrointestinal tract	867	CBL	ORPHA:98850
HP:0012719	Functional abnormality of the gastrointestinal tract	861	RUNX1	ORPHA:98850
HP:0012719	Functional abnormality of the gastrointestinal tract	6427	SRSF2	ORPHA:98850
HP:0012719	Functional abnormality of the gastrointestinal tract	875	CBS	ORPHA:394
HP:0012719	Functional abnormality of the gastrointestinal tract	2811	GP1BA	ORPHA:274
HP:0012719	Functional abnormality of the gastrointestinal tract	2811	GP1BA	ORPHA:853
HP:0012719	Functional abnormality of the gastrointestinal tract	2811	GP1BA	OMIM:231200
HP:0012719	Functional abnormality of the gastrointestinal tract	2812	GP1BB	ORPHA:274
HP:0012719	Functional abnormality of the gastrointestinal tract	2812	GP1BB	ORPHA:567
HP:0012719	Functional abnormality of the gastrointestinal tract	2812	GP1BB	ORPHA:853
HP:0012719	Functional abnormality of the gastrointestinal tract	2812	GP1BB	OMIM:231200
HP:0012719	Functional abnormality of the gastrointestinal tract	2815	GP9	ORPHA:274
HP:0012719	Functional abnormality of the gastrointestinal tract	2815	GP9	OMIM:231200
HP:0012719	Functional abnormality of the gastrointestinal tract	229	ALDOB	OMIM:229600
HP:0012719	Functional abnormality of the gastrointestinal tract	5351	PLOD1	OMIM:225400
HP:0012719	Functional abnormality of the gastrointestinal tract	2048	EPHB2	OMIM:618462
HP:0012719	Functional abnormality of the gastrointestinal tract	7148	TNXB	ORPHA:230839
HP:0012719	Functional abnormality of the gastrointestinal tract	80270	HSD3B7	ORPHA:79301
HP:0012719	Functional abnormality of the gastrointestinal tract	4072	EPCAM	ORPHA:144
HP:0012719	Functional abnormality of the gastrointestinal tract	4292	MLH1	ORPHA:144
HP:0012719	Functional abnormality of the gastrointestinal tract	5395	PMS2	ORPHA:144
HP:0012719	Functional abnormality of the gastrointestinal tract	7048	TGFBR2	ORPHA:144
HP:0012719	Functional abnormality of the gastrointestinal tract	5290	PIK3CA	ORPHA:144
HP:0012719	Functional abnormality of the gastrointestinal tract	5290	PIK3CA	ORPHA:90308
HP:0012719	Functional abnormality of the gastrointestinal tract	2956	MSH6	ORPHA:144
HP:0012719	Functional abnormality of the gastrointestinal tract	5378	PMS1	ORPHA:144
HP:0012719	Functional abnormality of the gastrointestinal tract	4436	MSH2	ORPHA:144
HP:0012719	Functional abnormality of the gastrointestinal tract	2158	F9	OMIM:306900
HP:0012719	Functional abnormality of the gastrointestinal tract	4609	MYC	ORPHA:543
HP:0012719	Functional abnormality of the gastrointestinal tract	64218	SEMA4A	ORPHA:440437
HP:0012719	Functional abnormality of the gastrointestinal tract	472	ATM	ORPHA:440437
HP:0012719	Functional abnormality of the gastrointestinal tract	5426	POLE	ORPHA:440437
HP:0012719	Functional abnormality of the gastrointestinal tract	675	BRCA2	ORPHA:440437
HP:0012719	Functional abnormality of the gastrointestinal tract	657	BMPR1A	ORPHA:440437
HP:0012719	Functional abnormality of the gastrointestinal tract	657	BMPR1A	ORPHA:79076
HP:0012719	Functional abnormality of the gastrointestinal tract	6224	RPS20	ORPHA:440437
HP:0012719	Functional abnormality of the gastrointestinal tract	4595	MUTYH	ORPHA:440437
HP:0012719	Functional abnormality of the gastrointestinal tract	5424	POLD1	ORPHA:440437
HP:0012719	Functional abnormality of the gastrointestinal tract	11200	CHEK2	ORPHA:440437
HP:0012719	Functional abnormality of the gastrointestinal tract	81575	APOLD1	OMIM:620715
HP:0012719	Functional abnormality of the gastrointestinal tract	843	CASP10	OMIM:603909
HP:0012719	Functional abnormality of the gastrointestinal tract	7248	TSC1	ORPHA:538
HP:0012719	Functional abnormality of the gastrointestinal tract	7249	TSC2	ORPHA:538
HP:0012719	Functional abnormality of the gastrointestinal tract	2022	ENG	OMIM:187300
HP:0012719	Functional abnormality of the gastrointestinal tract	2022	ENG	ORPHA:774
HP:0012719	Functional abnormality of the gastrointestinal tract	3106	HLA-B	ORPHA:36426
HP:0012719	Functional abnormality of the gastrointestinal tract	3106	HLA-B	ORPHA:117
HP:0012719	Functional abnormality of the gastrointestinal tract	10320	IKZF1	ORPHA:36426
HP:0012719	Functional abnormality of the gastrointestinal tract	3930	LBR	OMIM:613471
HP:0012719	Functional abnormality of the gastrointestinal tract	26277	TINF2	OMIM:613990
HP:0012719	Functional abnormality of the gastrointestinal tract	3717	JAK2	ORPHA:729
HP:0012719	Functional abnormality of the gastrointestinal tract	3717	JAK2	ORPHA:131
HP:0012719	Functional abnormality of the gastrointestinal tract	3717	JAK2	OMIM:263300
HP:0012719	Functional abnormality of the gastrointestinal tract	3674	ITGA2B	ORPHA:849
HP:0012719	Functional abnormality of the gastrointestinal tract	3674	ITGA2B	OMIM:273800
HP:0012719	Functional abnormality of the gastrointestinal tract	3674	ITGA2B	ORPHA:853
HP:0012719	Functional abnormality of the gastrointestinal tract	3690	ITGB3	ORPHA:849
HP:0012719	Functional abnormality of the gastrointestinal tract	3690	ITGB3	ORPHA:853
HP:0012719	Functional abnormality of the gastrointestinal tract	7132	TNFRSF1A	OMIM:142680
HP:0012719	Functional abnormality of the gastrointestinal tract	55109	AGGF1	ORPHA:90308
HP:0012719	Functional abnormality of the gastrointestinal tract	2160	F11	ORPHA:329
HP:0012719	Functional abnormality of the gastrointestinal tract	2159	F10	ORPHA:328
HP:0012719	Functional abnormality of the gastrointestinal tract	9103	FCGR2C	ORPHA:3002
HP:0012719	Functional abnormality of the gastrointestinal tract	1312	COMT	ORPHA:567
HP:0012719	Functional abnormality of the gastrointestinal tract	221037	JMJD1C	ORPHA:567
HP:0012719	Functional abnormality of the gastrointestinal tract	6239	RREB1	ORPHA:567
HP:0012719	Functional abnormality of the gastrointestinal tract	6899	TBX1	ORPHA:567
HP:0012719	Functional abnormality of the gastrointestinal tract	7290	HIRA	ORPHA:567
HP:0012719	Functional abnormality of the gastrointestinal tract	9632	SEC24C	ORPHA:567
HP:0012719	Functional abnormality of the gastrointestinal tract	7353	UFD1	ORPHA:567
HP:0012719	Functional abnormality of the gastrointestinal tract	421	ARVCF	ORPHA:567
HP:0012719	Functional abnormality of the gastrointestinal tract	3248	HPGD	ORPHA:2796
HP:0012719	Functional abnormality of the gastrointestinal tract	6578	SLCO2A1	ORPHA:2796
HP:0012719	Functional abnormality of the gastrointestinal tract	2155	F7	ORPHA:327
HP:0012719	Functional abnormality of the gastrointestinal tract	2153	F5	ORPHA:326
HP:0012719	Functional abnormality of the gastrointestinal tract	2153	F5	ORPHA:131
HP:0012719	Functional abnormality of the gastrointestinal tract	22827	PUF60	ORPHA:508488
HP:0012719	Functional abnormality of the gastrointestinal tract	5728	PTEN	ORPHA:79076
HP:0012719	Functional abnormality of the gastrointestinal tract	1499	CTNNB1	ORPHA:873
HP:0012719	Functional abnormality of the gastrointestinal tract	324	APC	ORPHA:873
HP:0012719	Functional abnormality of the gastrointestinal tract	6390	SDHB	ORPHA:97286
HP:0012719	Functional abnormality of the gastrointestinal tract	6390	SDHB	ORPHA:44890
HP:0012719	Functional abnormality of the gastrointestinal tract	6391	SDHC	ORPHA:97286
HP:0012719	Functional abnormality of the gastrointestinal tract	6391	SDHC	ORPHA:44890
HP:0012719	Functional abnormality of the gastrointestinal tract	6392	SDHD	ORPHA:97286
HP:0012719	Functional abnormality of the gastrointestinal tract	7450	VWF	OMIM:193400
HP:0012719	Functional abnormality of the gastrointestinal tract	11277	TREX1	OMIM:192315
HP:0012719	Functional abnormality of the gastrointestinal tract	11277	TREX1	ORPHA:247691
HP:0012719	Functional abnormality of the gastrointestinal tract	1493	CTLA4	ORPHA:900
HP:0012719	Functional abnormality of the gastrointestinal tract	26191	PTPN22	ORPHA:900
HP:0012719	Functional abnormality of the gastrointestinal tract	3115	HLA-DPB1	ORPHA:900
HP:0012719	Functional abnormality of the gastrointestinal tract	5657	PRTN3	ORPHA:900
HP:0012719	Functional abnormality of the gastrointestinal tract	3113	HLA-DPA1	ORPHA:900
HP:0012719	Functional abnormality of the gastrointestinal tract	493856	CISD2	ORPHA:3463
HP:0012719	Functional abnormality of the gastrointestinal tract	7466	WFS1	ORPHA:3463
HP:0012719	Functional abnormality of the gastrointestinal tract	4598	MVK	ORPHA:343
HP:0012719	Functional abnormality of the gastrointestinal tract	2243	FGA	ORPHA:98881
HP:0012719	Functional abnormality of the gastrointestinal tract	2243	FGA	ORPHA:101041
HP:0012719	Functional abnormality of the gastrointestinal tract	2244	FGB	ORPHA:98881
HP:0012719	Functional abnormality of the gastrointestinal tract	2244	FGB	ORPHA:101041
HP:0012719	Functional abnormality of the gastrointestinal tract	2266	FGG	ORPHA:98881
HP:0012719	Functional abnormality of the gastrointestinal tract	2266	FGG	ORPHA:101041
HP:0012719	Functional abnormality of the gastrointestinal tract	5054	SERPINE1	ORPHA:465
HP:0012719	Functional abnormality of the gastrointestinal tract	79991	STN1	OMIM:617341
HP:0012719	Functional abnormality of the gastrointestinal tract	368	ABCC6	OMIM:177850
HP:0012719	Functional abnormality of the gastrointestinal tract	368	ABCC6	OMIM:264800
HP:0012719	Functional abnormality of the gastrointestinal tract	368	ABCC6	ORPHA:758
HP:0012719	Functional abnormality of the gastrointestinal tract	64131	XYLT1	OMIM:264800
HP:0012719	Functional abnormality of the gastrointestinal tract	64132	XYLT2	OMIM:264800
HP:0012719	Functional abnormality of the gastrointestinal tract	3998	LMAN1	ORPHA:35909
HP:0012719	Functional abnormality of the gastrointestinal tract	90411	MCFD2	ORPHA:35909
HP:0012719	Functional abnormality of the gastrointestinal tract	11231	SEC63	ORPHA:2924
HP:0012719	Functional abnormality of the gastrointestinal tract	5589	PRKCSH	ORPHA:2924
HP:0012719	Functional abnormality of the gastrointestinal tract	4041	LRP5	ORPHA:2924
HP:0012719	Functional abnormality of the gastrointestinal tract	10165	SLC25A13	ORPHA:247598
HP:0012719	Functional abnormality of the gastrointestinal tract	3662	IRF4	ORPHA:3452
HP:0012719	Functional abnormality of the gastrointestinal tract	3516	RBPJ	ORPHA:974
HP:0012719	Functional abnormality of the gastrointestinal tract	4851	NOTCH1	ORPHA:974
HP:0012719	Functional abnormality of the gastrointestinal tract	57514	ARHGAP31	ORPHA:974
HP:0012719	Functional abnormality of the gastrointestinal tract	57572	DOCK6	ORPHA:974
HP:0012719	Functional abnormality of the gastrointestinal tract	285203	EOGT	ORPHA:974
HP:0012719	Functional abnormality of the gastrointestinal tract	54567	DLL4	ORPHA:974
HP:0012719	Functional abnormality of the gastrointestinal tract	3673	ITGA2	ORPHA:853
HP:0012719	Functional abnormality of the gastrointestinal tract	135228	CD109	ORPHA:853
HP:0012719	Functional abnormality of the gastrointestinal tract	199221	DZIP1L	ORPHA:731
HP:0012719	Functional abnormality of the gastrointestinal tract	5314	PKHD1	ORPHA:731
HP:0012719	Functional abnormality of the gastrointestinal tract	2658	GDF2	ORPHA:774
HP:0012719	Functional abnormality of the gastrointestinal tract	94	ACVRL1	ORPHA:774
HP:0012719	Functional abnormality of the gastrointestinal tract	4089	SMAD4	ORPHA:774
HP:0012719	Functional abnormality of the gastrointestinal tract	4351	MPI	ORPHA:79319
HP:0012719	Functional abnormality of the gastrointestinal tract	811	CALR	ORPHA:131
HP:0012719	Functional abnormality of the gastrointestinal tract	6389	SDHA	ORPHA:44890
HP:0012719	Functional abnormality of the gastrointestinal tract	5156	PDGFRA	ORPHA:44890
HP:0012719	Functional abnormality of the gastrointestinal tract	3815	KIT	ORPHA:44890
HP:0012719	Functional abnormality of the gastrointestinal tract	2157	F8	ORPHA:169805
HP:0012719	Functional abnormality of the gastrointestinal tract	2157	F8	ORPHA:169802
HP:0012719	Functional abnormality of the gastrointestinal tract	2147	F2	OMIM:613679
HP:0012719	Functional abnormality of the gastrointestinal tract	79651	RHBDF2	ORPHA:2198
HP:0012719	Functional abnormality of the gastrointestinal tract	25913	POT1	OMIM:620368
HP:0012719	Functional abnormality of the gastrointestinal tract	2184	FAH	OMIM:276700
HP:0012719	Functional abnormality of the gastrointestinal tract	4615	MYD88	ORPHA:33226
HP:0012719	Functional abnormality of the gastrointestinal tract	6794	STK11	ORPHA:2869
HP:0012719	Functional abnormality of the gastrointestinal tract	5167	ENPP1	ORPHA:758
HP:0012719	Functional abnormality of the gastrointestinal tract	8328	GFI1B	OMIM:187900
HP:0012719	Functional abnormality of the gastrointestinal tract	149233	IL23R	ORPHA:117
HP:0012719	Functional abnormality of the gastrointestinal tract	6775	STAT4	ORPHA:117
HP:0012719	Functional abnormality of the gastrointestinal tract	3586	IL10	ORPHA:117
HP:0012719	Functional abnormality of the gastrointestinal tract	4210	MEFV	ORPHA:117
HP:0012719	Functional abnormality of the gastrointestinal tract	1230	CCR1	ORPHA:117
HP:0012719	Functional abnormality of the gastrointestinal tract	355	FAS	ORPHA:117
HP:0012719	Functional abnormality of the gastrointestinal tract	3592	IL12A	ORPHA:117
HP:0012719	Functional abnormality of the gastrointestinal tract	101928376	IL12A-AS1	ORPHA:117
HP:0012719	Functional abnormality of the gastrointestinal tract	7099	TLR4	ORPHA:117
HP:0012719	Functional abnormality of the gastrointestinal tract	3459	IFNGR1	ORPHA:117
HP:0012719	Functional abnormality of the gastrointestinal tract	720	C4A	ORPHA:117
HP:0012719	Functional abnormality of the gastrointestinal tract	337867	UBAC2	ORPHA:117
HP:0012719	Functional abnormality of the gastrointestinal tract	51752	ERAP1	ORPHA:117
HP:0012719	Functional abnormality of the gastrointestinal tract	8302	KLRC4	ORPHA:117
HP:0012719	Functional abnormality of the gastrointestinal tract	9968	MED12	OMIM:301068
HP:0012719	Functional abnormality of the gastrointestinal tract	4221	MEN1	ORPHA:652
HP:0012719	Functional abnormality of the gastrointestinal tract	1027	CDKN1B	ORPHA:652
HP:0012719	Functional abnormality of the gastrointestinal tract	1026	CDKN1A	ORPHA:652
HP:0012719	Functional abnormality of the gastrointestinal tract	1030	CDKN2B	ORPHA:652
HP:0012719	Functional abnormality of the gastrointestinal tract	1031	CDKN2C	ORPHA:652
HP:0012719	Functional abnormality of the gastrointestinal tract	546	ATRX	ORPHA:100075
HP:0012719	Functional abnormality of the gastrointestinal tract	7454	WAS	OMIM:301000
HP:0012719	Functional abnormality of the gastrointestinal tract	7454	WAS	ORPHA:906
HP:0012719	Functional abnormality of the gastrointestinal tract	64135	IFIH1	OMIM:615846
HP:0012719	Functional abnormality of the gastrointestinal tract	7456	WIPF1	ORPHA:906
HP:0012719	Functional abnormality of the gastrointestinal tract	9493	KIF23	ORPHA:98870
HP:0012719	Functional abnormality of the gastrointestinal tract	29127	RACGAP1	ORPHA:98870
HP:0012719	Functional abnormality of the gastrointestinal tract	55699	IARS2	OMIM:616007
HP:0012719	Functional abnormality of the gastrointestinal tract	55699	IARS2	ORPHA:436174
HP:0012719	Functional abnormality of the gastrointestinal tract	8086	AAAS	ORPHA:869
HP:0012719	Functional abnormality of the gastrointestinal tract	8086	AAAS	OMIM:231550
HP:0012719	Functional abnormality of the gastrointestinal tract	2717	GLA	ORPHA:324
HP:0012719	Functional abnormality of the gastrointestinal tract	56246	MRAP	OMIM:607398
HP:0012719	Functional abnormality of the gastrointestinal tract	83483	PLVAP	OMIM:618183
HP:0012719	Functional abnormality of the gastrointestinal tract	57551	TAOK1	OMIM:619575
HP:0012719	Functional abnormality of the gastrointestinal tract	57217	TTC7A	OMIM:243150
HP:0012719	Functional abnormality of the gastrointestinal tract	26585	GREM1	ORPHA:157794
HP:0012719	Functional abnormality of the gastrointestinal tract	10616	RBCK1	OMIM:615895
HP:0012719	Functional abnormality of the gastrointestinal tract	3257	HPS1	OMIM:203300
HP:0012719	Functional abnormality of the gastrointestinal tract	9420	CYP7B1	OMIM:613812
HP:0012719	Functional abnormality of the gastrointestinal tract	23600	AMACR	OMIM:214950
HP:0012719	Functional abnormality of the gastrointestinal tract	23600	AMACR	ORPHA:79095
HP:0012719	Functional abnormality of the gastrointestinal tract	10092	ARPC5	OMIM:620565
HP:0012719	Functional abnormality of the gastrointestinal tract	10095	ARPC1B	OMIM:617718
HP:0012719	Functional abnormality of the gastrointestinal tract	3587	IL10RA	OMIM:613148
HP:0012719	Functional abnormality of the gastrointestinal tract	81858	SHARPIN	OMIM:620795
HP:0012719	Functional abnormality of the gastrointestinal tract	4558	MT-TF	ORPHA:550
HP:0012719	Functional abnormality of the gastrointestinal tract	4572	MT-TQ	ORPHA:550
HP:0012719	Functional abnormality of the gastrointestinal tract	4512	MT-CO1	ORPHA:550
HP:0012719	Functional abnormality of the gastrointestinal tract	4513	MT-CO2	ORPHA:550
HP:0012719	Functional abnormality of the gastrointestinal tract	4514	MT-CO3	ORPHA:550
HP:0012719	Functional abnormality of the gastrointestinal tract	4574	MT-TS1	ORPHA:550
HP:0012719	Functional abnormality of the gastrointestinal tract	4575	MT-TS2	ORPHA:550
HP:0012719	Functional abnormality of the gastrointestinal tract	4564	MT-TH	ORPHA:550
HP:0012719	Functional abnormality of the gastrointestinal tract	28982	FLVCR1	ORPHA:88628
HP:0012719	Functional abnormality of the gastrointestinal tract	815	CAMK2A	OMIM:617798
HP:0012719	Functional abnormality of the gastrointestinal tract	59335	PRDM12	OMIM:616488
HP:0012719	Functional abnormality of the gastrointestinal tract	1019	CDK4	ORPHA:99971
HP:0012719	Functional abnormality of the gastrointestinal tract	4193	MDM2	ORPHA:99971
HP:0012719	Functional abnormality of the gastrointestinal tract	8091	HMGA2	ORPHA:99971
HP:0012719	Functional abnormality of the gastrointestinal tract	25828	TXN2	ORPHA:478029
HP:0012719	Functional abnormality of the gastrointestinal tract	55148	UBR7	OMIM:619189
HP:0012719	Functional abnormality of the gastrointestinal tract	1649	DDIT3	ORPHA:99967
HP:0012719	Functional abnormality of the gastrointestinal tract	356	FASLG	ORPHA:3261
HP:0012719	Functional abnormality of the gastrointestinal tract	5422	POLA1	OMIM:301220
HP:0012719	Functional abnormality of the gastrointestinal tract	7128	TNFAIP3	OMIM:616744
HP:0012719	Functional abnormality of the gastrointestinal tract	10625	IVNS1ABP	OMIM:618969
HP:0012719	Functional abnormality of the gastrointestinal tract	6499	SKIC2	OMIM:614602
HP:0012719	Functional abnormality of the gastrointestinal tract	6499	SKIC2	ORPHA:84064
HP:0012719	Functional abnormality of the gastrointestinal tract	5551	PRF1	ORPHA:540
HP:0012719	Functional abnormality of the gastrointestinal tract	8676	STX11	ORPHA:540
HP:0012719	Functional abnormality of the gastrointestinal tract	201294	UNC13D	ORPHA:540
HP:0012719	Functional abnormality of the gastrointestinal tract	6813	STXBP2	ORPHA:540
HP:0012719	Functional abnormality of the gastrointestinal tract	6813	STXBP2	OMIM:613101
HP:0012719	Functional abnormality of the gastrointestinal tract	8915	BCL10	OMIM:616098
HP:0012719	Functional abnormality of the gastrointestinal tract	23149	FCHO1	OMIM:619164
HP:0012719	Functional abnormality of the gastrointestinal tract	5699	PSMB10	OMIM:620807
HP:0012719	Functional abnormality of the gastrointestinal tract	9652	SKIC3	ORPHA:84064
HP:0012719	Functional abnormality of the gastrointestinal tract	4689	NCF4	OMIM:613960
HP:0012719	Functional abnormality of the gastrointestinal tract	5294	PIK3CG	OMIM:619802
HP:0012719	Functional abnormality of the gastrointestinal tract	338328	GPIHBP1	OMIM:615947
HP:0012719	Functional abnormality of the gastrointestinal tract	4067	LYN	OMIM:620376
HP:0012719	Functional abnormality of the gastrointestinal tract	80169	CTC1	OMIM:612199
HP:0012719	Functional abnormality of the gastrointestinal tract	2212	FCGR2A	OMIM:219700
HP:0012719	Functional abnormality of the gastrointestinal tract	6535	SLC6A8	OMIM:300352
HP:0012719	Functional abnormality of the gastrointestinal tract	6535	SLC6A8	ORPHA:52503
HP:0012719	Functional abnormality of the gastrointestinal tract	2130	EWSR1	ORPHA:83469
HP:0012719	Functional abnormality of the gastrointestinal tract	7490	WT1	ORPHA:83469
HP:0012719	Functional abnormality of the gastrointestinal tract	5498	PPOX	ORPHA:79473
HP:0012719	Functional abnormality of the gastrointestinal tract	3145	HMBS	ORPHA:79276
HP:0012719	Functional abnormality of the gastrointestinal tract	26153	KIF26A	OMIM:620156
HP:0012719	Functional abnormality of the gastrointestinal tract	3909	LAMA3	ORPHA:79404
HP:0012719	Functional abnormality of the gastrointestinal tract	3918	LAMC2	ORPHA:79404
HP:0012719	Functional abnormality of the gastrointestinal tract	3914	LAMB3	ORPHA:79404
HP:0012719	Functional abnormality of the gastrointestinal tract	1308	COL17A1	ORPHA:79406
HP:0012719	Functional abnormality of the gastrointestinal tract	4312	MMP1	ORPHA:79408
HP:0012719	Functional abnormality of the gastrointestinal tract	1294	COL7A1	ORPHA:79408
HP:0012719	Functional abnormality of the gastrointestinal tract	1294	COL7A1	ORPHA:79409
HP:0012719	Functional abnormality of the gastrointestinal tract	1294	COL7A1	ORPHA:79410
HP:0012719	Functional abnormality of the gastrointestinal tract	1294	COL7A1	ORPHA:79411
HP:0012719	Functional abnormality of the gastrointestinal tract	3594	IL12RB1	ORPHA:186
HP:0012719	Functional abnormality of the gastrointestinal tract	23534	TNPO3	ORPHA:186
HP:0012719	Functional abnormality of the gastrointestinal tract	6689	SPIB	ORPHA:186
HP:0012719	Functional abnormality of the gastrointestinal tract	5450	POU2AF1	ORPHA:186
HP:0012719	Functional abnormality of the gastrointestinal tract	9966	TNFSF15	ORPHA:186
HP:0012719	Functional abnormality of the gastrointestinal tract	79258	MMEL1	ORPHA:186
HP:0012719	Functional abnormality of the gastrointestinal tract	3663	IRF5	ORPHA:186
HP:0012719	Functional abnormality of the gastrointestinal tract	58484	NLRC4	OMIM:616050
HP:0012719	Functional abnormality of the gastrointestinal tract	6772	STAT1	ORPHA:391487
HP:0012719	Functional abnormality of the gastrointestinal tract	1736	DKC1	OMIM:301108
HP:0012719	Functional abnormality of the gastrointestinal tract	26873	OPLAH	OMIM:260005
HP:0012719	Functional abnormality of the gastrointestinal tract	55505	NOP10	OMIM:620425
HP:0012719	Functional abnormality of the gastrointestinal tract	5336	PLCG2	OMIM:614878
HP:0012719	Functional abnormality of the gastrointestinal tract	3588	IL10RB	OMIM:612567
HP:0012719	Functional abnormality of the gastrointestinal tract	151648	SGO1	OMIM:616201
HP:0012719	Functional abnormality of the gastrointestinal tract	3423	IDS	OMIM:309900
HP:0012719	Functional abnormality of the gastrointestinal tract	3110	MNX1	OMIM:176450
HP:0012719	Functional abnormality of the gastrointestinal tract	10312	TCIRG1	ORPHA:486
HP:0012719	Functional abnormality of the gastrointestinal tract	6728	SRP19	ORPHA:486
HP:0012719	Functional abnormality of the gastrointestinal tract	1991	ELANE	ORPHA:486
HP:0012719	Functional abnormality of the gastrointestinal tract	2672	GFI1	ORPHA:486
HP:0012719	Functional abnormality of the gastrointestinal tract	81570	CLPB	ORPHA:486
HP:0012719	Functional abnormality of the gastrointestinal tract	23495	TNFRSF13B	OMIM:609529
HP:0012719	Functional abnormality of the gastrointestinal tract	25839	COG4	ORPHA:263501
HP:0012719	Functional abnormality of the gastrointestinal tract	25839	COG4	OMIM:613489
HP:0012719	Functional abnormality of the gastrointestinal tract	57379	AICDA	OMIM:605258
HP:0012719	Functional abnormality of the gastrointestinal tract	5994	RFXAP	ORPHA:572
HP:0012719	Functional abnormality of the gastrointestinal tract	4261	CIITA	ORPHA:572
HP:0012719	Functional abnormality of the gastrointestinal tract	5993	RFX5	ORPHA:572
HP:0012719	Functional abnormality of the gastrointestinal tract	8625	RFXANK	ORPHA:572
HP:0012719	Functional abnormality of the gastrointestinal tract	29071	C1GALT1C1	OMIM:301110
HP:0012719	Functional abnormality of the gastrointestinal tract	4683	NBN	OMIM:251260
HP:0012719	Functional abnormality of the gastrointestinal tract	11005	SPINK5	OMIM:256500
HP:0012719	Functional abnormality of the gastrointestinal tract	4792	NFKBIA	OMIM:612132
HP:0012719	Functional abnormality of the gastrointestinal tract	6891	TAP2	OMIM:620813
HP:0012719	Functional abnormality of the gastrointestinal tract	50615	IL21R	OMIM:615207
HP:0012719	Functional abnormality of the gastrointestinal tract	8456	FOXN1	ORPHA:83471
HP:0012719	Functional abnormality of the gastrointestinal tract	7535	ZAP70	ORPHA:911
HP:0012719	Functional abnormality of the gastrointestinal tract	3718	JAK3	ORPHA:35078
HP:0012719	Functional abnormality of the gastrointestinal tract	2321	FLT1	ORPHA:275555
HP:0012719	Functional abnormality of the gastrointestinal tract	219736	STOX1	ORPHA:275555
HP:0012719	Functional abnormality of the gastrointestinal tract	10699	CORIN	ORPHA:275555
HP:0012719	Functional abnormality of the gastrointestinal tract	4854	NOTCH3	ORPHA:2591
HP:0012719	Functional abnormality of the gastrointestinal tract	5159	PDGFRB	ORPHA:2591
HP:0012719	Functional abnormality of the gastrointestinal tract	2202	EFEMP1	OMIM:620780
HP:0012719	Functional abnormality of the gastrointestinal tract	2131	EXT1	ORPHA:321
HP:0012719	Functional abnormality of the gastrointestinal tract	2132	EXT2	ORPHA:321
HP:0012719	Functional abnormality of the gastrointestinal tract	2068	ERCC2	OMIM:601675
HP:0012719	Functional abnormality of the gastrointestinal tract	1604	CD55	OMIM:226300
HP:0012719	Functional abnormality of the gastrointestinal tract	6905	TBCE	ORPHA:2323
HP:0012719	Functional abnormality of the gastrointestinal tract	4286	MITF	ORPHA:897
HP:0012719	Functional abnormality of the gastrointestinal tract	6663	SOX10	ORPHA:897
HP:0012719	Functional abnormality of the gastrointestinal tract	4791	NFKB2	OMIM:615577
HP:0012719	Functional abnormality of the gastrointestinal tract	29927	SEC61A1	OMIM:620670
HP:0012719	Functional abnormality of the gastrointestinal tract	3123	HLA-DRB1	ORPHA:397
HP:0012719	Functional abnormality of the gastrointestinal tract	8974	P4HA2	ORPHA:397
HP:0012719	Functional abnormality of the gastrointestinal tract	1281	COL3A1	ORPHA:286
HP:0012719	Functional abnormality of the gastrointestinal tract	7010	TEK	ORPHA:1059
HP:0012719	Functional abnormality of the gastrointestinal tract	3593	IL12B	ORPHA:3287
HP:0012719	Functional abnormality of the gastrointestinal tract	6945	MLX	ORPHA:3287
HP:0012719	Functional abnormality of the gastrointestinal tract	567	B2M	ORPHA:314652
HP:0012719	Functional abnormality of the gastrointestinal tract	672	BRCA1	ORPHA:1333
HP:0012719	Functional abnormality of the gastrointestinal tract	285282	RABL3	ORPHA:1333
HP:0012719	Functional abnormality of the gastrointestinal tract	7157	TP53	ORPHA:1333
HP:0012719	Functional abnormality of the gastrointestinal tract	1029	CDKN2A	ORPHA:1333
HP:0012719	Functional abnormality of the gastrointestinal tract	79728	PALB2	ORPHA:1333
HP:0012719	Functional abnormality of the gastrointestinal tract	23022	PALLD	ORPHA:1333
HP:0012719	Functional abnormality of the gastrointestinal tract	343641	TGM6	OMIM:613908
HP:0012719	Functional abnormality of the gastrointestinal tract	343641	TGM6	ORPHA:276193
HP:0012719	Functional abnormality of the gastrointestinal tract	5654	HTRA1	ORPHA:199354
HP:0012719	Functional abnormality of the gastrointestinal tract	5917	RARS1	OMIM:616140
HP:0012719	Functional abnormality of the gastrointestinal tract	5917	RARS1	ORPHA:438114
HP:0012719	Functional abnormality of the gastrointestinal tract	1593	CYP27A1	OMIM:213700
HP:0012719	Functional abnormality of the gastrointestinal tract	2583	B4GALNT1	ORPHA:101006
HP:0012719	Functional abnormality of the gastrointestinal tract	23503	ZFYVE26	ORPHA:100996
HP:0012719	Functional abnormality of the gastrointestinal tract	9401	RECQL4	ORPHA:221016
HP:0012719	Functional abnormality of the gastrointestinal tract	215	ABCD1	ORPHA:388
HP:0012719	Functional abnormality of the gastrointestinal tract	5979	RET	ORPHA:388
HP:0012719	Functional abnormality of the gastrointestinal tract	2668	GDNF	ORPHA:388
HP:0012719	Functional abnormality of the gastrointestinal tract	6608	SMO	ORPHA:388
HP:0012719	Functional abnormality of the gastrointestinal tract	1889	ECE1	ORPHA:388
HP:0012719	Functional abnormality of the gastrointestinal tract	6720	SREBF1	ORPHA:388
HP:0012719	Functional abnormality of the gastrointestinal tract	1908	EDN3	ORPHA:388
HP:0012719	Functional abnormality of the gastrointestinal tract	223117	SEMA3D	ORPHA:388
HP:0012719	Functional abnormality of the gastrointestinal tract	538	ATP7A	ORPHA:388
HP:0012719	Functional abnormality of the gastrointestinal tract	1910	EDNRB	ORPHA:388
HP:0012719	Functional abnormality of the gastrointestinal tract	10512	SEMA3C	ORPHA:388
HP:0012719	Functional abnormality of the gastrointestinal tract	2064	ERBB2	ORPHA:388
HP:0012719	Functional abnormality of the gastrointestinal tract	2065	ERBB3	ORPHA:388
HP:0012719	Functional abnormality of the gastrointestinal tract	4902	NRTN	ORPHA:388
HP:0012719	Functional abnormality of the gastrointestinal tract	6792	CDKL5	ORPHA:3095
HP:0012719	Functional abnormality of the gastrointestinal tract	22854	NTNG1	ORPHA:3095
HP:0012719	Functional abnormality of the gastrointestinal tract	9568	GABBR2	ORPHA:3095
HP:0012719	Functional abnormality of the gastrointestinal tract	4204	MECP2	ORPHA:3095
HP:0012719	Functional abnormality of the gastrointestinal tract	8243	SMC1A	ORPHA:3095
HP:0012719	Functional abnormality of the gastrointestinal tract	5604	MAP2K1	ORPHA:1340
HP:0012719	Functional abnormality of the gastrointestinal tract	5605	MAP2K2	ORPHA:1340
HP:0012719	Functional abnormality of the gastrointestinal tract	3845	KRAS	ORPHA:1340
HP:0012719	Functional abnormality of the gastrointestinal tract	673	BRAF	ORPHA:1340
HP:0012719	Functional abnormality of the gastrointestinal tract	7305	TYROBP	ORPHA:2770
HP:0012719	Functional abnormality of the gastrointestinal tract	54209	TREM2	ORPHA:2770
HP:0012719	Functional abnormality of the gastrointestinal tract	595	CCND1	ORPHA:29073
HP:0012719	Functional abnormality of the gastrointestinal tract	64682	ANAPC1	ORPHA:221008
HP:0012719	Functional abnormality of the gastrointestinal tract	1371	CPOX	ORPHA:79273
HP:0012719	Functional abnormality of the gastrointestinal tract	55107	ANO1	OMIM:620045
HP:0012719	Functional abnormality of the gastrointestinal tract	79827	CLMP	OMIM:615237
HP:0012719	Functional abnormality of the gastrointestinal tract	641	BLM	ORPHA:125
HP:0012719	Functional abnormality of the gastrointestinal tract	4125	MAN2B1	ORPHA:309282
HP:0012719	Functional abnormality of the gastrointestinal tract	4125	MAN2B1	ORPHA:309288
HP:0012719	Functional abnormality of the gastrointestinal tract	65082	VPS33A	ORPHA:505248
HP:0012719	Functional abnormality of the gastrointestinal tract	64421	DCLRE1C	ORPHA:275
HP:0012719	Functional abnormality of the gastrointestinal tract	113179	ADAT3	ORPHA:363528
HP:0012719	Functional abnormality of the gastrointestinal tract	10379	IRF9	OMIM:618648
HP:0012719	Functional abnormality of the gastrointestinal tract	50943	FOXP3	ORPHA:37042
HP:0012719	Functional abnormality of the gastrointestinal tract	916	CD3E	OMIM:615615
HP:0012719	Functional abnormality of the gastrointestinal tract	917	CD3G	OMIM:615607
HP:0012719	Functional abnormality of the gastrointestinal tract	3431	SP110	ORPHA:79124
HP:0012719	Functional abnormality of the gastrointestinal tract	55343	SLC35C1	ORPHA:99843
HP:0012719	Functional abnormality of the gastrointestinal tract	6868	ADAM17	ORPHA:294023
HP:0012719	Functional abnormality of the gastrointestinal tract	1956	EGFR	ORPHA:294023
HP:0012719	Functional abnormality of the gastrointestinal tract	55768	NGLY1	OMIM:615273
HP:0012719	Functional abnormality of the gastrointestinal tract	55768	NGLY1	ORPHA:404454
HP:0012719	Functional abnormality of the gastrointestinal tract	5376	PMP22	ORPHA:98916
HP:0012719	Functional abnormality of the gastrointestinal tract	10755	GIPC1	ORPHA:98897
HP:0012719	Functional abnormality of the gastrointestinal tract	84433	CARD11	OMIM:617638
HP:0012719	Functional abnormality of the gastrointestinal tract	3716	JAK1	OMIM:618999
HP:0012719	Functional abnormality of the gastrointestinal tract	6774	STAT3	OMIM:147060
HP:0012719	Functional abnormality of the gastrointestinal tract	5277	PIGA	ORPHA:447
HP:0012719	Functional abnormality of the gastrointestinal tract	4860	PNP	ORPHA:760
HP:0012719	Functional abnormality of the gastrointestinal tract	57192	MCOLN1	OMIM:252650
HP:0012719	Functional abnormality of the gastrointestinal tract	1794	DOCK2	OMIM:616433
HP:0012719	Functional abnormality of the gastrointestinal tract	8547	FCN3	OMIM:613860
HP:0012719	Functional abnormality of the gastrointestinal tract	2271	FH	OMIM:606812
HP:0012719	Functional abnormality of the gastrointestinal tract	84992	PIGY	OMIM:616809
HP:0012719	Functional abnormality of the gastrointestinal tract	50619	DEF6	OMIM:619573
HP:0012719	Functional abnormality of the gastrointestinal tract	2859	GPR35	ORPHA:171
HP:0012719	Functional abnormality of the gastrointestinal tract	10507	SEMA4D	ORPHA:171
HP:0012719	Functional abnormality of the gastrointestinal tract	4485	MST1	ORPHA:171
HP:0012719	Functional abnormality of the gastrointestinal tract	10747	MASP2	OMIM:613791
HP:0012719	Functional abnormality of the gastrointestinal tract	27178	IL37	OMIM:619398
HP:0012719	Functional abnormality of the gastrointestinal tract	6850	SYK	OMIM:619381
HP:0012719	Functional abnormality of the gastrointestinal tract	139818	DOCK11	OMIM:301109
HP:0012719	Functional abnormality of the gastrointestinal tract	29775	CARD10	OMIM:619632
HP:0012719	Functional abnormality of the gastrointestinal tract	60468	BACH2	OMIM:618394
HP:0012719	Functional abnormality of the gastrointestinal tract	55765	INAVA	OMIM:618077
HP:0012719	Functional abnormality of the gastrointestinal tract	9051	PSTPIP1	ORPHA:69126
HP:0012719	Functional abnormality of the gastrointestinal tract	79415	CYBC1	OMIM:618935
HP:0012719	Functional abnormality of the gastrointestinal tract	96459	FNIP1	OMIM:619705
HP:0012719	Functional abnormality of the gastrointestinal tract	2984	GUCY2C	OMIM:614616
HP:0012719	Functional abnormality of the gastrointestinal tract	4629	MYH11	OMIM:619350
HP:0012719	Functional abnormality of the gastrointestinal tract	5966	REL	OMIM:619652
HP:0012719	Functional abnormality of the gastrointestinal tract	22900	CARD8	OMIM:619079
HP:0012719	Functional abnormality of the gastrointestinal tract	6135	RPL11	OMIM:612562
HP:0012719	Functional abnormality of the gastrointestinal tract	60684	TRAPPC11	OMIM:615356
HP:0012719	Functional abnormality of the gastrointestinal tract	5238	PGM3	ORPHA:443811
HP:0012719	Functional abnormality of the gastrointestinal tract	3376	IARS1	ORPHA:541423
HP:0012719	Functional abnormality of the gastrointestinal tract	81031	SLC2A10	ORPHA:3342
HP:0012719	Functional abnormality of the gastrointestinal tract	9719	ADAMTSL2	ORPHA:1901
HP:0012719	Functional abnormality of the gastrointestinal tract	9509	ADAMTS2	ORPHA:1901
HP:0012719	Functional abnormality of the gastrointestinal tract	6925	TCF4	ORPHA:2896
HP:0012719	Functional abnormality of the gastrointestinal tract	2887	GRB10	ORPHA:96182
HP:0012719	Functional abnormality of the gastrointestinal tract	2743	GLRB	ORPHA:3197
HP:0012719	Functional abnormality of the gastrointestinal tract	2741	GLRA1	ORPHA:3197
HP:0012719	Functional abnormality of the gastrointestinal tract	10243	GPHN	ORPHA:3197
HP:0012719	Functional abnormality of the gastrointestinal tract	84896	ATAD1	ORPHA:3197
HP:0012719	Functional abnormality of the gastrointestinal tract	9152	SLC6A5	ORPHA:3197
HP:0012719	Functional abnormality of the gastrointestinal tract	146206	CARMIL2	OMIM:618131
HP:0012719	Functional abnormality of the gastrointestinal tract	7543	ZFX	OMIM:301118
HP:0012719	Functional abnormality of the gastrointestinal tract	4010	LMX1B	ORPHA:495818
HP:0012719	Functional abnormality of the gastrointestinal tract	6812	STXBP1	ORPHA:495818
HP:0012719	Functional abnormality of the gastrointestinal tract	5723	PSPH	ORPHA:79350
HP:0012719	Functional abnormality of the gastrointestinal tract	26227	PHGDH	ORPHA:79351
HP:0012719	Functional abnormality of the gastrointestinal tract	25802	LMOD1	ORPHA:2241
HP:0012719	Functional abnormality of the gastrointestinal tract	4638	MYLK	ORPHA:2241
HP:0012719	Functional abnormality of the gastrointestinal tract	59	ACTA2	OMIM:613834
HP:0012719	Functional abnormality of the gastrointestinal tract	10398	MYL9	OMIM:619365
HP:0012719	Functional abnormality of the gastrointestinal tract	6515	SLC2A3	ORPHA:399
HP:0012719	Functional abnormality of the gastrointestinal tract	7528	YY1	ORPHA:506358
HP:0012719	Functional abnormality of the gastrointestinal tract	5393	EXOSC9	OMIM:618065
HP:0012719	Functional abnormality of the gastrointestinal tract	112	ADCY6	OMIM:616287
HP:0012719	Functional abnormality of the gastrointestinal tract	7314	UBB	ORPHA:99772
HP:0012719	Functional abnormality of the gastrointestinal tract	57822	GRHL3	ORPHA:99772
HP:0012719	Functional abnormality of the gastrointestinal tract	222663	SCUBE3	OMIM:619184
HP:0012719	Functional abnormality of the gastrointestinal tract	57589	RIC1	ORPHA:199306
HP:0012719	Functional abnormality of the gastrointestinal tract	1739	DLG1	ORPHA:199306
HP:0012719	Functional abnormality of the gastrointestinal tract	999	CDH1	ORPHA:199306
HP:0012719	Functional abnormality of the gastrointestinal tract	1748	DLX4	ORPHA:199306
HP:0012719	Functional abnormality of the gastrointestinal tract	22837	COBLL1	ORPHA:199306
HP:0012719	Functional abnormality of the gastrointestinal tract	54848	ARHGEF38	ORPHA:199306
HP:0012719	Functional abnormality of the gastrointestinal tract	9411	ARHGAP29	ORPHA:199306
HP:0012719	Functional abnormality of the gastrointestinal tract	4088	SMAD3	OMIM:613795
HP:0012719	Functional abnormality of the gastrointestinal tract	7046	TGFBR1	OMIM:609192
HP:0012719	Functional abnormality of the gastrointestinal tract	81704	DOCK8	OMIM:243700
HP:0012719	Functional abnormality of the gastrointestinal tract	1828	DSG1	OMIM:615508
HP:0012719	Functional abnormality of the gastrointestinal tract	7042	TGFB2	OMIM:614816
HP:0012719	Functional abnormality of the gastrointestinal tract	7043	TGFB3	OMIM:615582
HP:0012719	Functional abnormality of the gastrointestinal tract	55898	UNC45A	OMIM:619377
HP:0012719	Functional abnormality of the gastrointestinal tract	1777	DNASE2	OMIM:619858
HP:0007417	Discoid lupus rash	1536	CYBB	OMIM:306400
HP:0007417	Discoid lupus rash	139818	DOCK11	OMIM:301109
HP:0007417	Discoid lupus rash	23592	LEMD3	ORPHA:166119
HP:0007417	Discoid lupus rash	4688	NCF2	OMIM:233710
HP:0007417	Discoid lupus rash	653361	NCF1	OMIM:233700
HP:0007417	Discoid lupus rash	1535	CYBA	OMIM:233690
HP:0007417	Discoid lupus rash	714	C1QC	OMIM:620322
HP:0007417	Discoid lupus rash	6775	STAT4	ORPHA:93552
HP:0007417	Discoid lupus rash	6775	STAT4	ORPHA:536
HP:0007417	Discoid lupus rash	6696	SPP1	ORPHA:93552
HP:0007417	Discoid lupus rash	6696	SPP1	ORPHA:536
HP:0007417	Discoid lupus rash	6303	SAT1	ORPHA:93552
HP:0007417	Discoid lupus rash	3654	IRAK1	ORPHA:93552
HP:0007417	Discoid lupus rash	3654	IRAK1	ORPHA:536
HP:0007417	Discoid lupus rash	713	C1QB	OMIM:620321
HP:0007417	Discoid lupus rash	2215	FCGR3B	ORPHA:536
HP:0007417	Discoid lupus rash	3684	ITGAM	ORPHA:536
HP:0007417	Discoid lupus rash	3586	IL10	ORPHA:536
HP:0007417	Discoid lupus rash	221895	JAZF1	ORPHA:536
HP:0007417	Discoid lupus rash	11277	TREX1	ORPHA:536
HP:0007417	Discoid lupus rash	7292	TNFSF4	ORPHA:536
HP:0007417	Discoid lupus rash	640	BLK	ORPHA:536
HP:0007417	Discoid lupus rash	720	C4A	ORPHA:536
HP:0007417	Discoid lupus rash	55024	BANK1	ORPHA:536
HP:0007417	Discoid lupus rash	3500	IGHG1	ORPHA:536
HP:0007417	Discoid lupus rash	1493	CTLA4	ORPHA:536
HP:0007417	Discoid lupus rash	26191	PTPN22	ORPHA:536
HP:0007417	Discoid lupus rash	1380	CR2	ORPHA:536
HP:0007417	Discoid lupus rash	5133	PDCD1	ORPHA:536
HP:0007417	Discoid lupus rash	2113	ETS1	ORPHA:536
HP:0007417	Discoid lupus rash	2213	FCGR2B	ORPHA:536
HP:0007417	Discoid lupus rash	10318	TNIP1	ORPHA:536
HP:0007417	Discoid lupus rash	7332	UBE2L3	ORPHA:536
HP:0007417	Discoid lupus rash	79932	KIAA0319L	ORPHA:536
HP:0007417	Discoid lupus rash	4204	MECP2	ORPHA:536
HP:0007417	Discoid lupus rash	3663	IRF5	ORPHA:536
HP:0007417	Discoid lupus rash	3123	HLA-DRB1	ORPHA:536
HP:0007417	Discoid lupus rash	721	C4B	ORPHA:536
HP:0007417	Discoid lupus rash	1773	DNASE1	ORPHA:536
HP:0007417	Discoid lupus rash	51284	TLR7	ORPHA:536
HP:0007417	Discoid lupus rash	54899	PXK	ORPHA:536
HP:0007417	Discoid lupus rash	7128	TNFAIP3	ORPHA:536
HP:0007418	Alopecia totalis	8456	FOXN1	ORPHA:169095
HP:0007418	Alopecia totalis	3728	JUP	ORPHA:158687
HP:0007418	Alopecia totalis	4000	LMNA	ORPHA:740
HP:0007418	Alopecia totalis	10269	ZMPSTE24	ORPHA:740
HP:0007418	Alopecia totalis	1832	DSP	OMIM:609638
HP:0007418	Alopecia totalis	4791	NFKB2	ORPHA:293978
HP:0007418	Alopecia totalis	4791	NFKB2	OMIM:615577
HP:0007418	Alopecia totalis	7386	UQCRFS1	OMIM:618775
HP:0007418	Alopecia totalis	54101	RIPK4	OMIM:263650
HP:0007418	Alopecia totalis	54101	RIPK4	ORPHA:1234
HP:0007418	Alopecia totalis	60529	ALX4	OMIM:613451
HP:0007418	Alopecia totalis	51360	MBTPS2	OMIM:300918
HP:0007418	Alopecia totalis	4047	LSS	ORPHA:1366
HP:0007418	Alopecia totalis	9401	RECQL4	ORPHA:221016
HP:0007418	Alopecia totalis	10804	GJB6	OMIM:129500
HP:0007418	Alopecia totalis	64682	ANAPC1	ORPHA:221008
HP:0007513	Generalized hypopigmentation	63915	BLOC1S5	OMIM:619172
HP:0007513	Generalized hypopigmentation	57724	EPG5	OMIM:242840
HP:0007513	Generalized hypopigmentation	7299	TYR	OMIM:606952
HP:0007513	Generalized hypopigmentation	7299	TYR	OMIM:203100
HP:0007513	Generalized hypopigmentation	7299	TYR	ORPHA:79431
HP:0007513	Generalized hypopigmentation	7299	TYR	ORPHA:79434
HP:0007513	Generalized hypopigmentation	8943	AP3D1	OMIM:617050
HP:0007513	Generalized hypopigmentation	11152	WDR45	OMIM:615179
HP:0007513	Generalized hypopigmentation	83938	LRMDA	OMIM:615179
HP:0007513	Generalized hypopigmentation	4157	MC1R	OMIM:203200
HP:0007513	Generalized hypopigmentation	4948	OCA2	OMIM:203200
HP:0007513	Generalized hypopigmentation	3257	HPS1	OMIM:203300
HP:0007513	Generalized hypopigmentation	51151	SLC45A2	OMIM:606574
HP:0007513	Generalized hypopigmentation	51151	SLC45A2	ORPHA:79435
HP:0007513	Generalized hypopigmentation	1910	EDNRB	OMIM:600501
HP:0007513	Generalized hypopigmentation	89781	HPS4	OMIM:614073
HP:0007513	Generalized hypopigmentation	11234	HPS5	OMIM:614074
HP:0007513	Generalized hypopigmentation	84343	HPS3	OMIM:614072
HP:0007513	Generalized hypopigmentation	7306	TYRP1	OMIM:203290
HP:0007513	Generalized hypopigmentation	79803	HPS6	OMIM:614075
HP:0007513	Generalized hypopigmentation	84062	DTNBP1	OMIM:614076
HP:0007513	Generalized hypopigmentation	388552	BLOC1S3	OMIM:614077
HP:0007513	Generalized hypopigmentation	9652	SKIC3	OMIM:222470
HP:0007513	Generalized hypopigmentation	9652	SKIC3	ORPHA:84064
HP:0007513	Generalized hypopigmentation	8882	ZPR1	OMIM:619321
HP:0007513	Generalized hypopigmentation	283652	SLC24A5	OMIM:113750
HP:0007513	Generalized hypopigmentation	3852	KRT5	ORPHA:158681
HP:0007513	Generalized hypopigmentation	8626	TP63	ORPHA:1896
HP:0007513	Generalized hypopigmentation	8626	TP63	OMIM:604292
HP:0007513	Generalized hypopigmentation	6499	SKIC2	ORPHA:84064
HP:0007513	Generalized hypopigmentation	4286	MITF	OMIM:103500
HP:0007513	Generalized hypopigmentation	4286	MITF	OMIM:617306
HP:0007513	Generalized hypopigmentation	5053	PAH	OMIM:261600
HP:0007513	Generalized hypopigmentation	4952	OCRL	ORPHA:534
HP:0007513	Generalized hypopigmentation	100033413	SNORD116-1	OMIM:176270
HP:0007513	Generalized hypopigmentation	8924	HERC2	OMIM:176270
HP:0007513	Generalized hypopigmentation	23742	NPAP1	OMIM:176270
HP:0007513	Generalized hypopigmentation	338433	SNORD115-1	OMIM:176270
HP:0007513	Generalized hypopigmentation	54551	MAGEL2	OMIM:176270
HP:0007513	Generalized hypopigmentation	7681	MKRN3	OMIM:176270
HP:0007513	Generalized hypopigmentation	145624	PWAR1	OMIM:176270
HP:0007513	Generalized hypopigmentation	3653	IPW	OMIM:176270
HP:0007513	Generalized hypopigmentation	791114	PWRN1	OMIM:176270
HP:0007513	Generalized hypopigmentation	8546	AP3B1	OMIM:608233
HP:0007513	Generalized hypopigmentation	1130	LYST	ORPHA:352723
HP:0007410	Palmoplantar hyperhidrosis	1080	CFTR	ORPHA:498359
HP:0007410	Palmoplantar hyperhidrosis	1508	CTSB	OMIM:148370
HP:0007410	Palmoplantar hyperhidrosis	80326	WNT10A	OMIM:150400
HP:0007410	Palmoplantar hyperhidrosis	80326	WNT10A	OMIM:257980
HP:0007410	Palmoplantar hyperhidrosis	8710	SERPINB7	OMIM:615598
HP:0007410	Palmoplantar hyperhidrosis	9373	PLAA	OMIM:617527
HP:0007410	Palmoplantar hyperhidrosis	3872	KRT17	OMIM:167210
HP:0007410	Palmoplantar hyperhidrosis	3872	KRT17	ORPHA:2309
HP:0007410	Palmoplantar hyperhidrosis	51360	MBTPS2	ORPHA:659
HP:0007410	Palmoplantar hyperhidrosis	162514	TRPV3	ORPHA:659
HP:0007410	Palmoplantar hyperhidrosis	64065	PERP	ORPHA:659
HP:0007410	Palmoplantar hyperhidrosis	284654	RSPO1	OMIM:610644
HP:0007410	Palmoplantar hyperhidrosis	3868	KRT16	ORPHA:2309
HP:0007410	Palmoplantar hyperhidrosis	3853	KRT6A	ORPHA:2309
HP:0007410	Palmoplantar hyperhidrosis	3854	KRT6B	ORPHA:2309
HP:0007410	Palmoplantar hyperhidrosis	1041	CDSN	OMIM:270300
HP:0007411	Hypoplastic-absent sebaceous glands	1896	EDA	OMIM:305100
HP:0007412	Macular hyperpigmented dermopathy	1308	COL17A1	OMIM:619787
HP:0007413	Nevus flammeus of the forehead	55252	ASXL2	OMIM:617190
HP:0007413	Nevus flammeus of the forehead	81857	MED25	ORPHA:464738
HP:0007413	Nevus flammeus of the forehead	81857	MED25	OMIM:616449
HP:0007413	Nevus flammeus of the forehead	3930	LBR	OMIM:618019
HP:0007413	Nevus flammeus of the forehead	118924	FRA10AC1	OMIM:620113
HP:0007413	Nevus flammeus of the forehead	9939	RBM8A	ORPHA:3320
HP:0007413	Nevus flammeus of the forehead	9939	RBM8A	OMIM:274000
HP:0007413	Nevus flammeus of the forehead	5354	PLP1	ORPHA:280229
HP:0007413	Nevus flammeus of the forehead	8621	CDK13	OMIM:617360
HP:0007413	Nevus flammeus of the forehead	8558	CDK10	OMIM:617694
HP:0007414	Neonatal wrinkled skin of hands and feet	23545	ATP6V0A2	OMIM:278250
HP:0007414	Neonatal wrinkled skin of hands and feet	92344	GORAB	OMIM:231070
HP:0000951	Abnormality of the skin	8294	H4C9	OMIM:619951
HP:0000951	Abnormality of the skin	6495	SIX1	OMIM:113650
HP:0000951	Abnormality of the skin	6495	SIX1	ORPHA:107
HP:0000951	Abnormality of the skin	6495	SIX1	ORPHA:52429
HP:0000951	Abnormality of the skin	6495	SIX1	OMIM:608389
HP:0000951	Abnormality of the skin	2335	FN1	ORPHA:93315
HP:0000951	Abnormality of the skin	2972	BRF1	OMIM:616202
HP:0000951	Abnormality of the skin	145173	B3GLCT	ORPHA:709
HP:0000951	Abnormality of the skin	10992	SF3B2	OMIM:164210
HP:0000951	Abnormality of the skin	6299	SALL1	OMIM:107480
HP:0000951	Abnormality of the skin	6299	SALL1	ORPHA:857
HP:0000951	Abnormality of the skin	374654	KIF7	OMIM:200990
HP:0000951	Abnormality of the skin	9723	SEMA3E	ORPHA:138
HP:0000951	Abnormality of the skin	10735	STAG2	OMIM:301022
HP:0000951	Abnormality of the skin	10265	IRX5	OMIM:611174
HP:0000951	Abnormality of the skin	23389	MED13L	ORPHA:369891
HP:0000951	Abnormality of the skin	54880	BCOR	ORPHA:568
HP:0000951	Abnormality of the skin	1501	CTNND2	ORPHA:281
HP:0000951	Abnormality of the skin	9037	SEMA5A	ORPHA:281
HP:0000951	Abnormality of the skin	51729	WBP11	OMIM:619227
HP:0000951	Abnormality of the skin	5332	PLCB4	OMIM:620458
HP:0000951	Abnormality of the skin	5332	PLCB4	ORPHA:137888
HP:0000951	Abnormality of the skin	147912	SIX5	OMIM:610896
HP:0000951	Abnormality of the skin	147912	SIX5	ORPHA:107
HP:0000951	Abnormality of the skin	1906	EDN1	ORPHA:137888
HP:0000951	Abnormality of the skin	2773	GNAI3	ORPHA:137888
HP:0000951	Abnormality of the skin	2773	GNAI3	OMIM:602483
HP:0000951	Abnormality of the skin	53834	FGFRL1	OMIM:194190
HP:0000951	Abnormality of the skin	9343	EFTUD2	OMIM:610536
HP:0000951	Abnormality of the skin	9343	EFTUD2	ORPHA:79113
HP:0000951	Abnormality of the skin	3192	HNRNPU	ORPHA:238769
HP:0000951	Abnormality of the skin	8092	ALX1	ORPHA:306542
HP:0000951	Abnormality of the skin	94005	PIGS	OMIM:618143
HP:0000951	Abnormality of the skin	57282	SLC4A10	OMIM:620746
HP:0000951	Abnormality of the skin	1909	EDNRA	OMIM:616367
HP:0000951	Abnormality of the skin	10907	TXNL4A	OMIM:608572
HP:0000951	Abnormality of the skin	2736	GLI2	OMIM:610829
HP:0000951	Abnormality of the skin	79759	ZNF668	OMIM:620194
HP:0000951	Abnormality of the skin	84172	POLR1B	ORPHA:861
HP:0000951	Abnormality of the skin	9533	POLR1C	ORPHA:861
HP:0000951	Abnormality of the skin	51082	POLR1D	ORPHA:861
HP:0000951	Abnormality of the skin	6949	TCOF1	ORPHA:861
HP:0000951	Abnormality of the skin	6949	TCOF1	OMIM:154500
HP:0000951	Abnormality of the skin	29123	ANKRD11	ORPHA:261250
HP:0000951	Abnormality of the skin	51339	DACT1	ORPHA:857
HP:0000951	Abnormality of the skin	374969	SVBP	OMIM:618569
HP:0000951	Abnormality of the skin	2317	FLNB	OMIM:272460
HP:0000951	Abnormality of the skin	9897	WASHC5	ORPHA:7
HP:0000951	Abnormality of the skin	28952	CCDC22	ORPHA:7
HP:0000951	Abnormality of the skin	57020	VPS35L	ORPHA:7
HP:0000951	Abnormality of the skin	56896	DPYSL5	ORPHA:7
HP:0000951	Abnormality of the skin	2719	GPC3	OMIM:312870
HP:0000951	Abnormality of the skin	2239	GPC4	OMIM:312870
HP:0000951	Abnormality of the skin	23064	SETX	OMIM:606002
HP:0000951	Abnormality of the skin	5476	CTSA	OMIM:256540
HP:0000951	Abnormality of the skin	147495	APCDD1	OMIM:605389
HP:0000951	Abnormality of the skin	7421	VDR	ORPHA:93160
HP:0000951	Abnormality of the skin	7421	VDR	OMIM:277440
HP:0000951	Abnormality of the skin	200879	LIPH	OMIM:604379
HP:0000951	Abnormality of the skin	5167	ENPP1	ORPHA:51608
HP:0000951	Abnormality of the skin	5167	ENPP1	ORPHA:758
HP:0000951	Abnormality of the skin	368	ABCC6	ORPHA:51608
HP:0000951	Abnormality of the skin	368	ABCC6	ORPHA:758
HP:0000951	Abnormality of the skin	7355	SLC35A2	ORPHA:356961
HP:0000951	Abnormality of the skin	6898	TAT	OMIM:276600
HP:0000951	Abnormality of the skin	6775	STAT4	ORPHA:93552
HP:0000951	Abnormality of the skin	6696	SPP1	ORPHA:93552
HP:0000951	Abnormality of the skin	6303	SAT1	ORPHA:93552
HP:0000951	Abnormality of the skin	3654	IRAK1	ORPHA:93552
HP:0000951	Abnormality of the skin	1235	CCR6	ORPHA:220402
HP:0000951	Abnormality of the skin	1235	CCR6	ORPHA:220393
HP:0000951	Abnormality of the skin	79932	KIAA0319L	ORPHA:220402
HP:0000951	Abnormality of the skin	1490	CCN2	ORPHA:220402
HP:0000951	Abnormality of the skin	1490	CCN2	ORPHA:220393
HP:0000951	Abnormality of the skin	3663	IRF5	ORPHA:220402
HP:0000951	Abnormality of the skin	3663	IRF5	ORPHA:220393
HP:0000951	Abnormality of the skin	857	CAV1	ORPHA:220402
HP:0000951	Abnormality of the skin	857	CAV1	ORPHA:220393
HP:0000951	Abnormality of the skin	3123	HLA-DRB1	ORPHA:220402
HP:0000951	Abnormality of the skin	3123	HLA-DRB1	ORPHA:220393
HP:0000951	Abnormality of the skin	5339	PLEC	ORPHA:254361
HP:0000951	Abnormality of the skin	11146	GLMN	OMIM:138000
HP:0000951	Abnormality of the skin	53630	BCO1	OMIM:115300
HP:0000951	Abnormality of the skin	6144	RPL21	OMIM:615885
HP:0000951	Abnormality of the skin	9640	ZNF592	ORPHA:83472
HP:0000951	Abnormality of the skin	84942	WDR73	ORPHA:83472
HP:0000951	Abnormality of the skin	3248	HPGD	ORPHA:217059
HP:0000951	Abnormality of the skin	5340	PLG	OMIM:217090
HP:0000951	Abnormality of the skin	5340	PLG	ORPHA:722
HP:0000951	Abnormality of the skin	2132	EXT2	ORPHA:466926
HP:0000951	Abnormality of the skin	3914	LAMB3	OMIM:104530
HP:0000951	Abnormality of the skin	23592	LEMD3	ORPHA:1879
HP:0000951	Abnormality of the skin	348	APOE	ORPHA:412
HP:0000951	Abnormality of the skin	2767	GNA11	ORPHA:1556
HP:0000951	Abnormality of the skin	151188	ARL6IP6	ORPHA:1556
HP:0000951	Abnormality of the skin	23314	SATB2	ORPHA:576283
HP:0000951	Abnormality of the skin	4072	EPCAM	ORPHA:92050
HP:0000951	Abnormality of the skin	105371045	PERCC1	ORPHA:92050
HP:0000951	Abnormality of the skin	889	KRIT1	OMIM:116860
HP:0000951	Abnormality of the skin	4621	MYH3	OMIM:193700
HP:0000951	Abnormality of the skin	10560	SLC19A2	OMIM:249270
HP:0000951	Abnormality of the skin	284252	KCTD1	ORPHA:2036
HP:0000951	Abnormality of the skin	121391	KRT74	OMIM:614929
HP:0000951	Abnormality of the skin	60681	FKBP10	OMIM:610968
HP:0000951	Abnormality of the skin	3265	HRAS	ORPHA:3071
HP:0000951	Abnormality of the skin	1281	COL3A1	ORPHA:286
HP:0000951	Abnormality of the skin	1281	COL3A1	ORPHA:2500
HP:0000951	Abnormality of the skin	9896	FIG4	ORPHA:208441
HP:0000951	Abnormality of the skin	1508	CTSB	OMIM:148370
HP:0000951	Abnormality of the skin	10682	EBP	ORPHA:35173
HP:0000951	Abnormality of the skin	84818	IL17RC	ORPHA:1334
HP:0000951	Abnormality of the skin	64581	CLEC7A	ORPHA:1334
HP:0000951	Abnormality of the skin	23765	IL17RA	ORPHA:1334
HP:0000951	Abnormality of the skin	10758	TRAF3IP2	ORPHA:1334
HP:0000951	Abnormality of the skin	112744	IL17F	ORPHA:1334
HP:0000951	Abnormality of the skin	4053	LTBP2	OMIM:251750
HP:0000951	Abnormality of the skin	229	ALDOB	OMIM:229600
HP:0000951	Abnormality of the skin	229	ALDOB	ORPHA:469
HP:0000951	Abnormality of the skin	55532	SLC30A10	ORPHA:309854
HP:0000951	Abnormality of the skin	3783	KCNN4	OMIM:616689
HP:0000951	Abnormality of the skin	9420	CYP7B1	ORPHA:79302
HP:0000951	Abnormality of the skin	9420	CYP7B1	OMIM:613812
HP:0000951	Abnormality of the skin	6718	AKR1D1	ORPHA:79303
HP:0000951	Abnormality of the skin	6718	AKR1D1	OMIM:235555
HP:0000951	Abnormality of the skin	54658	UGT1A1	OMIM:143500
HP:0000951	Abnormality of the skin	54658	UGT1A1	OMIM:237900
HP:0000951	Abnormality of the skin	54658	UGT1A1	OMIM:606785
HP:0000951	Abnormality of the skin	54658	UGT1A1	OMIM:218800
HP:0000951	Abnormality of the skin	6005	RHAG	OMIM:185000
HP:0000951	Abnormality of the skin	6005	RHAG	ORPHA:71275
HP:0000951	Abnormality of the skin	6005	RHAG	OMIM:268150
HP:0000951	Abnormality of the skin	55687	TRMU	OMIM:613070
HP:0000951	Abnormality of the skin	60561	RINT1	OMIM:618641
HP:0000951	Abnormality of the skin	11232	POLG2	OMIM:618528
HP:0000951	Abnormality of the skin	1716	DGUOK	OMIM:251880
HP:0000951	Abnormality of the skin	1244	ABCC2	ORPHA:234
HP:0000951	Abnormality of the skin	1244	ABCC2	OMIM:237500
HP:0000951	Abnormality of the skin	5311	PKD2	OMIM:613095
HP:0000951	Abnormality of the skin	10068	IL18BP	OMIM:618549
HP:0000951	Abnormality of the skin	2592	GALT	OMIM:230400
HP:0000951	Abnormality of the skin	2592	GALT	ORPHA:79239
HP:0000951	Abnormality of the skin	5265	SERPINA1	ORPHA:60
HP:0000951	Abnormality of the skin	5428	POLG	OMIM:203700
HP:0000951	Abnormality of the skin	9095	TBX19	OMIM:201400
HP:0000951	Abnormality of the skin	11231	SEC63	ORPHA:2924
HP:0000951	Abnormality of the skin	5589	PRKCSH	ORPHA:2924
HP:0000951	Abnormality of the skin	4041	LRP5	ORPHA:2924
HP:0000951	Abnormality of the skin	10165	SLC25A13	ORPHA:247598
HP:0000951	Abnormality of the skin	2729	GCLC	ORPHA:33574
HP:0000951	Abnormality of the skin	2153	F5	ORPHA:131
HP:0000951	Abnormality of the skin	11330	CTRC	ORPHA:103918
HP:0000951	Abnormality of the skin	11330	CTRC	ORPHA:676
HP:0000951	Abnormality of the skin	6690	SPINK1	ORPHA:103918
HP:0000951	Abnormality of the skin	6690	SPINK1	ORPHA:676
HP:0000951	Abnormality of the skin	79989	IFT56	OMIM:619534
HP:0000951	Abnormality of the skin	5213	PFKM	OMIM:232800
HP:0000951	Abnormality of the skin	29929	ALG6	ORPHA:79320
HP:0000951	Abnormality of the skin	5825	ABCD3	OMIM:616278
HP:0000951	Abnormality of the skin	27429	HTRA2	OMIM:617248
HP:0000951	Abnormality of the skin	6006	RHCE	ORPHA:71275
HP:0000951	Abnormality of the skin	6007	RHD	ORPHA:71275
HP:0000951	Abnormality of the skin	7167	TPI1	OMIM:615512
HP:0000951	Abnormality of the skin	763	CA5A	OMIM:615751
HP:0000951	Abnormality of the skin	3875	KRT18	OMIM:215600
HP:0000951	Abnormality of the skin	4023	LPL	OMIM:238600
HP:0000951	Abnormality of the skin	11093	ADAMTS13	OMIM:274150
HP:0000951	Abnormality of the skin	5172	SLC26A4	ORPHA:95720
HP:0000951	Abnormality of the skin	51218	GLRX5	OMIM:616860
HP:0000951	Abnormality of the skin	2821	GPI	OMIM:613470
HP:0000951	Abnormality of the skin	50619	DEF6	OMIM:619573
HP:0000951	Abnormality of the skin	7019	TFAM	OMIM:617156
HP:0000951	Abnormality of the skin	3431	SP110	ORPHA:79124
HP:0000951	Abnormality of the skin	7289	TULP3	OMIM:619902
HP:0000951	Abnormality of the skin	285282	RABL3	ORPHA:1333
HP:0000951	Abnormality of the skin	23022	PALLD	ORPHA:1333
HP:0000951	Abnormality of the skin	4548	MTR	OMIM:250940
HP:0000951	Abnormality of the skin	5644	PRSS1	ORPHA:676
HP:0000951	Abnormality of the skin	5645	PRSS2	ORPHA:676
HP:0000951	Abnormality of the skin	55503	TRPV6	ORPHA:676
HP:0000951	Abnormality of the skin	1357	CPA1	ORPHA:676
HP:0000951	Abnormality of the skin	9997	SCO2	OMIM:604377
HP:0000951	Abnormality of the skin	570	BAAT	OMIM:619232
HP:0000951	Abnormality of the skin	6928	HNF1B	ORPHA:93111
HP:0000951	Abnormality of the skin	286410	ATP11C	OMIM:301015
HP:0000951	Abnormality of the skin	51124	IER3IP1	OMIM:614231
HP:0000951	Abnormality of the skin	3098	HK1	OMIM:235700
HP:0000951	Abnormality of the skin	226	ALDOA	OMIM:611881
HP:0000951	Abnormality of the skin	100506658	OCLN	OMIM:251290
HP:0000951	Abnormality of the skin	199221	DZIP1L	ORPHA:731
HP:0000951	Abnormality of the skin	10577	NPC2	OMIM:607625
HP:0000951	Abnormality of the skin	9451	EIF2AK3	ORPHA:1667
HP:0000951	Abnormality of the skin	4067	LYN	OMIM:620376
HP:0000951	Abnormality of the skin	2110	ETFDH	OMIM:231680
HP:0000951	Abnormality of the skin	2108	ETFA	OMIM:231680
HP:0000951	Abnormality of the skin	2109	ETFB	OMIM:231680
HP:0000951	Abnormality of the skin	2582	GALE	OMIM:230350
HP:0000951	Abnormality of the skin	128	ADH5	OMIM:619151
HP:0000951	Abnormality of the skin	6016	RIT1	OMIM:615355
HP:0000951	Abnormality of the skin	148738	HJV	OMIM:602390
HP:0000951	Abnormality of the skin	4173	MCM4	OMIM:609981
HP:0000951	Abnormality of the skin	64324	NSD1	ORPHA:821
HP:0000951	Abnormality of the skin	10297	APC2	ORPHA:821
HP:0000951	Abnormality of the skin	1584	CYP11B1	OMIM:202010
HP:0000951	Abnormality of the skin	1584	CYP11B1	ORPHA:90795
HP:0000951	Abnormality of the skin	1583	CYP11A1	OMIM:613743
HP:0000951	Abnormality of the skin	10587	TXNRD2	OMIM:617825
HP:0000951	Abnormality of the skin	56246	MRAP	OMIM:607398
HP:0000951	Abnormality of the skin	3284	HSD3B2	ORPHA:90791
HP:0000951	Abnormality of the skin	30061	SLC40A1	OMIM:606069
HP:0000951	Abnormality of the skin	84196	USP48	ORPHA:96253
HP:0000951	Abnormality of the skin	9101	USP8	ORPHA:96253
HP:0000951	Abnormality of the skin	2908	NR3C1	ORPHA:96253
HP:0000951	Abnormality of the skin	546	ATRX	ORPHA:96253
HP:0000951	Abnormality of the skin	165	AEBP1	OMIM:618000
HP:0000951	Abnormality of the skin	8091	HMGA2	ORPHA:94063
HP:0000951	Abnormality of the skin	190	NR0B1	ORPHA:95702
HP:0000951	Abnormality of the skin	190	NR0B1	OMIM:300200
HP:0000951	Abnormality of the skin	6638	SNRPN	ORPHA:177907
HP:0000951	Abnormality of the skin	650	BMP2	OMIM:235200
HP:0000951	Abnormality of the skin	3077	HFE	OMIM:235200
HP:0000951	Abnormality of the skin	3077	HFE	ORPHA:465508
HP:0000951	Abnormality of the skin	55131	RBM28	ORPHA:157954
HP:0000951	Abnormality of the skin	4158	MC2R	OMIM:202200
HP:0000951	Abnormality of the skin	8879	SGPL1	OMIM:617575
HP:0000951	Abnormality of the skin	5293	PIK3CD	ORPHA:221139
HP:0000951	Abnormality of the skin	90417	KNSTRN	ORPHA:221139
HP:0000951	Abnormality of the skin	80025	PANK2	OMIM:234200
HP:0000951	Abnormality of the skin	7036	TFR2	OMIM:604250
HP:0000951	Abnormality of the skin	2629	GBA1	OMIM:230800
HP:0000951	Abnormality of the skin	3718	JAK3	ORPHA:35078
HP:0000951	Abnormality of the skin	654	BMP6	ORPHA:465508
HP:0000951	Abnormality of the skin	57817	HAMP	OMIM:613313
HP:0000951	Abnormality of the skin	8086	AAAS	OMIM:231550
HP:0000951	Abnormality of the skin	55367	PIDD1	OMIM:619827
HP:0000951	Abnormality of the skin	51126	NAA20	OMIM:619717
HP:0000951	Abnormality of the skin	55627	SMPD4	OMIM:618622
HP:0000951	Abnormality of the skin	123263	MTFMT	OMIM:614947
HP:0000951	Abnormality of the skin	9578	CDC42BPB	OMIM:619841
HP:0000951	Abnormality of the skin	3020	H3-3A	OMIM:619720
HP:0000951	Abnormality of the skin	10300	KATNB1	OMIM:616212
HP:0000951	Abnormality of the skin	51506	UFC1	OMIM:618076
HP:0000951	Abnormality of the skin	55790	CSGALNACT1	OMIM:618870
HP:0000951	Abnormality of the skin	22858	CILK1	OMIM:612651
HP:0000951	Abnormality of the skin	9382	COG1	OMIM:611209
HP:0000951	Abnormality of the skin	84987	COX14	OMIM:619053
HP:0000951	Abnormality of the skin	652	BMP4	OMIM:607932
HP:0000951	Abnormality of the skin	5442	POLRMT	OMIM:619743
HP:0000951	Abnormality of the skin	132158	GLYCTK	OMIM:220120
HP:0000951	Abnormality of the skin	55148	UBR7	OMIM:619189
HP:0000951	Abnormality of the skin	1802	DPH2	OMIM:620062
HP:0000951	Abnormality of the skin	55768	NGLY1	OMIM:615273
HP:0000951	Abnormality of the skin	63895	PIEZO2	OMIM:114300
HP:0000951	Abnormality of the skin	150468	CKAP2L	OMIM:272440
HP:0000951	Abnormality of the skin	10430	TMEM147	OMIM:620075
HP:0000951	Abnormality of the skin	23483	TGDS	OMIM:616145
HP:0000951	Abnormality of the skin	4208	MEF2C	OMIM:613443
HP:0000951	Abnormality of the skin	55690	PACS1	ORPHA:329224
HP:0000951	Abnormality of the skin	11338	U2AF2	OMIM:620535
HP:0000951	Abnormality of the skin	81603	TRIM8	OMIM:619428
HP:0000951	Abnormality of the skin	9230	RAB11B	OMIM:617807
HP:0000951	Abnormality of the skin	55081	IFT57	OMIM:617927
HP:0000951	Abnormality of the skin	5515	PPP2CA	OMIM:618354
HP:0000951	Abnormality of the skin	23030	KDM4B	OMIM:619320
HP:0000951	Abnormality of the skin	2902	GRIN1	OMIM:617820
HP:0000951	Abnormality of the skin	23097	CDK19	OMIM:618916
HP:0000951	Abnormality of the skin	5530	PPP3CA	OMIM:617711
HP:0000951	Abnormality of the skin	80746	TSEN2	OMIM:612389
HP:0000951	Abnormality of the skin	9361	LONP1	ORPHA:79243
HP:0000951	Abnormality of the skin	5160	PDHA1	ORPHA:79243
HP:0000951	Abnormality of the skin	8604	SLC25A12	OMIM:612949
HP:0000951	Abnormality of the skin	9241	NOG	OMIM:186500
HP:0000951	Abnormality of the skin	57187	THOC2	ORPHA:457240
HP:0000951	Abnormality of the skin	6938	TCF12	OMIM:615314
HP:0000951	Abnormality of the skin	92002	CCNQ	OMIM:300707
HP:0000951	Abnormality of the skin	4329	ALDH6A1	OMIM:614105
HP:0000951	Abnormality of the skin	1457	CSNK2A1	OMIM:617062
HP:0000951	Abnormality of the skin	7204	TRIO	OMIM:617061
HP:0000951	Abnormality of the skin	83737	ITCH	OMIM:613385
HP:0000951	Abnormality of the skin	7169	TPM2	OMIM:108120
HP:0000951	Abnormality of the skin	403	ARL3	OMIM:618161
HP:0000951	Abnormality of the skin	8200	GDF5	OMIM:201250
HP:0000951	Abnormality of the skin	1748	DLX4	OMIM:616788
HP:0000951	Abnormality of the skin	2733	GLE1	OMIM:611890
HP:0000951	Abnormality of the skin	738	VPS51	OMIM:618606
HP:0000951	Abnormality of the skin	8462	KLF11	ORPHA:552
HP:0000951	Abnormality of the skin	2645	GCK	ORPHA:552
HP:0000951	Abnormality of the skin	26060	APPL1	ORPHA:552
HP:0000951	Abnormality of the skin	1056	CEL	ORPHA:552
HP:0000951	Abnormality of the skin	4760	NEUROD1	ORPHA:552
HP:0000951	Abnormality of the skin	3651	PDX1	ORPHA:552
HP:0000951	Abnormality of the skin	5078	PAX4	ORPHA:552
HP:0000951	Abnormality of the skin	3630	INS	ORPHA:552
HP:0000951	Abnormality of the skin	11198	SUPT16H	ORPHA:261229
HP:0000951	Abnormality of the skin	57680	CHD8	ORPHA:261229
HP:0000951	Abnormality of the skin	7840	ALMS1	ORPHA:64
HP:0000951	Abnormality of the skin	7840	ALMS1	OMIM:203800
HP:0000951	Abnormality of the skin	26580	BSCL2	OMIM:269700
HP:0000951	Abnormality of the skin	26580	BSCL2	ORPHA:363400
HP:0000951	Abnormality of the skin	26580	BSCL2	ORPHA:528
HP:0000951	Abnormality of the skin	4160	MC4R	ORPHA:71529
HP:0000951	Abnormality of the skin	3290	HSD11B1	OMIM:614662
HP:0000951	Abnormality of the skin	91461	PKDCC	OMIM:618821
HP:0000951	Abnormality of the skin	63924	CIDEC	OMIM:615238
HP:0000951	Abnormality of the skin	63924	CIDEC	ORPHA:435651
HP:0000951	Abnormality of the skin	5189	PEX1	ORPHA:3220
HP:0000951	Abnormality of the skin	5190	PEX6	ORPHA:3220
HP:0000951	Abnormality of the skin	27125	AFF4	ORPHA:444077
HP:0000951	Abnormality of the skin	5346	PLIN1	ORPHA:280356
HP:0000951	Abnormality of the skin	5346	PLIN1	OMIM:613877
HP:0000951	Abnormality of the skin	23187	PHLDB1	OMIM:620639
HP:0000951	Abnormality of the skin	150	ADRA2A	OMIM:620679
HP:0000951	Abnormality of the skin	8450	CUL4B	ORPHA:85293
HP:0000951	Abnormality of the skin	6603	SMARCD2	OMIM:617475
HP:0000951	Abnormality of the skin	1315	COPB1	OMIM:619255
HP:0000951	Abnormality of the skin	208	AKT2	ORPHA:79085
HP:0000951	Abnormality of the skin	11145	PLAAT3	OMIM:620683
HP:0000951	Abnormality of the skin	10555	AGPAT2	ORPHA:528
HP:0000951	Abnormality of the skin	10555	AGPAT2	OMIM:608594
HP:0000951	Abnormality of the skin	284119	CAVIN1	ORPHA:528
HP:0000951	Abnormality of the skin	284119	CAVIN1	OMIM:613327
HP:0000951	Abnormality of the skin	2353	FOS	ORPHA:528
HP:0000951	Abnormality of the skin	3720	JARID2	OMIM:620098
HP:0000951	Abnormality of the skin	1588	CYP19A1	ORPHA:91
HP:0000951	Abnormality of the skin	3479	IGF1	ORPHA:73272
HP:0000951	Abnormality of the skin	6548	SLC9A1	OMIM:616291
HP:0000951	Abnormality of the skin	54543	TOMM7	OMIM:620601
HP:0000951	Abnormality of the skin	8936	WASF1	OMIM:618707
HP:0000951	Abnormality of the skin	5324	PLAG1	ORPHA:397590
HP:0000951	Abnormality of the skin	55023	PHIP	OMIM:617991
HP:0000951	Abnormality of the skin	55023	PHIP	ORPHA:589905
HP:0000951	Abnormality of the skin	157570	ESCO2	OMIM:268300
HP:0000951	Abnormality of the skin	54101	RIPK4	ORPHA:1401
HP:0000951	Abnormality of the skin	54101	RIPK4	OMIM:263650
HP:0000951	Abnormality of the skin	128178	EDARADD	OMIM:614940
HP:0000951	Abnormality of the skin	128178	EDARADD	OMIM:614941
HP:0000951	Abnormality of the skin	128178	EDARADD	ORPHA:248
HP:0000951	Abnormality of the skin	128178	EDARADD	OMIM:129490
HP:0000951	Abnormality of the skin	19	ABCA1	OMIM:205400
HP:0000951	Abnormality of the skin	19	ABCA1	ORPHA:31150
HP:0000951	Abnormality of the skin	114803	MYSM1	ORPHA:508542
HP:0000951	Abnormality of the skin	114803	MYSM1	OMIM:618116
HP:0000951	Abnormality of the skin	7849	PAX8	OMIM:218700
HP:0000951	Abnormality of the skin	7849	PAX8	ORPHA:95712
HP:0000951	Abnormality of the skin	56916	SMARCAD1	ORPHA:384
HP:0000951	Abnormality of the skin	224	ALDH3A2	ORPHA:816
HP:0000951	Abnormality of the skin	8626	TP63	OMIM:103285
HP:0000951	Abnormality of the skin	8626	TP63	OMIM:129400
HP:0000951	Abnormality of the skin	8626	TP63	ORPHA:69085
HP:0000951	Abnormality of the skin	8626	TP63	ORPHA:978
HP:0000951	Abnormality of the skin	8626	TP63	ORPHA:1896
HP:0000951	Abnormality of the skin	1161	ERCC8	OMIM:216400
HP:0000951	Abnormality of the skin	7252	TSHB	ORPHA:90674
HP:0000951	Abnormality of the skin	7252	TSHB	OMIM:275100
HP:0000951	Abnormality of the skin	388698	FLG2	OMIM:618084
HP:0000951	Abnormality of the skin	2074	ERCC6	OMIM:600630
HP:0000951	Abnormality of the skin	2074	ERCC6	OMIM:133540
HP:0000951	Abnormality of the skin	1896	EDA	OMIM:305100
HP:0000951	Abnormality of the skin	56992	KIF15	ORPHA:261323
HP:0000951	Abnormality of the skin	9071	CLDN10	OMIM:617671
HP:0000951	Abnormality of the skin	26277	TINF2	OMIM:613990
HP:0000951	Abnormality of the skin	64834	ELOVL1	OMIM:618527
HP:0000951	Abnormality of the skin	816	CAMK2B	OMIM:617799
HP:0000951	Abnormality of the skin	10815	CPLX1	ORPHA:280
HP:0000951	Abnormality of the skin	54872	PIGG	ORPHA:280
HP:0000951	Abnormality of the skin	7469	NELFA	ORPHA:280
HP:0000951	Abnormality of the skin	1487	CTBP1	ORPHA:280
HP:0000951	Abnormality of the skin	3954	LETM1	ORPHA:280
HP:0000951	Abnormality of the skin	7468	NSD2	ORPHA:280
HP:0000951	Abnormality of the skin	55012	PPP2R3C	OMIM:618419
HP:0000951	Abnormality of the skin	2783	GNB2	OMIM:619503
HP:0000951	Abnormality of the skin	1474	CST6	OMIM:618535
HP:0000951	Abnormality of the skin	200734	SPRED2	OMIM:619745
HP:0000951	Abnormality of the skin	4853	NOTCH2	ORPHA:955
HP:0000951	Abnormality of the skin	3981	LIG4	ORPHA:235
HP:0000951	Abnormality of the skin	3981	LIG4	ORPHA:39041
HP:0000951	Abnormality of the skin	54888	NSUN2	ORPHA:235
HP:0000951	Abnormality of the skin	4953	ODC1	OMIM:619075
HP:0000951	Abnormality of the skin	2550	GABBR1	OMIM:620502
HP:0000951	Abnormality of the skin	11128	POLR3A	OMIM:264090
HP:0000951	Abnormality of the skin	55719	SLF2	OMIM:620184
HP:0000951	Abnormality of the skin	283209	PGM2L1	OMIM:620191
HP:0000951	Abnormality of the skin	2312	FLG	ORPHA:461
HP:0000951	Abnormality of the skin	2312	FLG	OMIM:146700
HP:0000951	Abnormality of the skin	412	STS	ORPHA:461
HP:0000951	Abnormality of the skin	2934	GSN	ORPHA:85448
HP:0000951	Abnormality of the skin	253959	RALGAPA1	OMIM:618797
HP:0000951	Abnormality of the skin	5594	MAPK1	OMIM:619087
HP:0000951	Abnormality of the skin	51163	DBR1	OMIM:620510
HP:0000951	Abnormality of the skin	6785	ELOVL4	ORPHA:1955
HP:0000951	Abnormality of the skin	6785	ELOVL4	OMIM:614457
HP:0000951	Abnormality of the skin	9180	OSMR	OMIM:105250
HP:0000951	Abnormality of the skin	57654	UVSSA	OMIM:614640
HP:0000951	Abnormality of the skin	4733	DRG1	OMIM:620641
HP:0000951	Abnormality of the skin	64127	NOD2	ORPHA:90340
HP:0000951	Abnormality of the skin	10913	EDAR	ORPHA:248
HP:0000951	Abnormality of the skin	10913	EDAR	OMIM:129490
HP:0000951	Abnormality of the skin	1476	CSTB	ORPHA:248
HP:0000951	Abnormality of the skin	7201	TRHR	ORPHA:99832
HP:0000951	Abnormality of the skin	6528	SLC5A5	OMIM:274400
HP:0000951	Abnormality of the skin	117581	TWIST2	ORPHA:920
HP:0000951	Abnormality of the skin	117581	TWIST2	OMIM:200110
HP:0000951	Abnormality of the skin	117581	TWIST2	OMIM:209885
HP:0000951	Abnormality of the skin	3861	KRT14	ORPHA:69087
HP:0000951	Abnormality of the skin	112752	IFT43	OMIM:614099
HP:0000951	Abnormality of the skin	5587	PRKD1	OMIM:617364
HP:0000951	Abnormality of the skin	10457	GPNMB	OMIM:617920
HP:0000951	Abnormality of the skin	7319	UBE2A	ORPHA:163956
HP:0000951	Abnormality of the skin	7319	UBE2A	OMIM:300860
HP:0000951	Abnormality of the skin	5908	RAP1B	OMIM:620654
HP:0000951	Abnormality of the skin	55770	EXOC2	OMIM:619306
HP:0000951	Abnormality of the skin	165918	RNF168	OMIM:611943
HP:0000951	Abnormality of the skin	10535	RNASEH2A	ORPHA:51
HP:0000951	Abnormality of the skin	84153	RNASEH2C	ORPHA:51
HP:0000951	Abnormality of the skin	25939	SAMHD1	ORPHA:51
HP:0000951	Abnormality of the skin	25939	SAMHD1	OMIM:612952
HP:0000951	Abnormality of the skin	79621	RNASEH2B	ORPHA:51
HP:0000951	Abnormality of the skin	103	ADAR	ORPHA:51
HP:0000951	Abnormality of the skin	11277	TREX1	ORPHA:51
HP:0000951	Abnormality of the skin	100147744	RNU7-1	ORPHA:51
HP:0000951	Abnormality of the skin	100147744	RNU7-1	OMIM:619487
HP:0000951	Abnormality of the skin	134353	LSM11	ORPHA:51
HP:0000951	Abnormality of the skin	64135	IFIH1	ORPHA:51
HP:0000951	Abnormality of the skin	23013	SPEN	OMIM:619312
HP:0000951	Abnormality of the skin	100151683	RNU4ATAC	OMIM:210710
HP:0000951	Abnormality of the skin	2355	FOSL2	OMIM:620789
HP:0000951	Abnormality of the skin	4308	TRPM1	OMIM:613216
HP:0000951	Abnormality of the skin	9526	MPDU1	OMIM:609180
HP:0000951	Abnormality of the skin	846	CASR	ORPHA:428
HP:0000951	Abnormality of the skin	6261	RYR1	ORPHA:466650
HP:0000951	Abnormality of the skin	55630	SLC39A4	ORPHA:37
HP:0000951	Abnormality of the skin	55630	SLC39A4	OMIM:201100
HP:0000951	Abnormality of the skin	831	CAST	OMIM:616295
HP:0000951	Abnormality of the skin	4792	NFKBIA	OMIM:612132
HP:0000951	Abnormality of the skin	79644	SRD5A3	OMIM:612379
HP:0000951	Abnormality of the skin	5053	PAH	OMIM:261600
HP:0000951	Abnormality of the skin	7200	TRH	OMIM:275120
HP:0000951	Abnormality of the skin	9837	GINS1	OMIM:617827
HP:0000951	Abnormality of the skin	3417	IDH1	ORPHA:99646
HP:0000951	Abnormality of the skin	5604	MAP2K1	ORPHA:1340
HP:0000951	Abnormality of the skin	5604	MAP2K1	OMIM:163950
HP:0000951	Abnormality of the skin	5605	MAP2K2	ORPHA:1340
HP:0000951	Abnormality of the skin	22845	DOLK	OMIM:610768
HP:0000951	Abnormality of the skin	1482	NKX2-5	ORPHA:95712
HP:0000951	Abnormality of the skin	538	ATP7A	ORPHA:565
HP:0000951	Abnormality of the skin	5283	PIGH	OMIM:618010
HP:0000951	Abnormality of the skin	3848	KRT1	ORPHA:530838
HP:0000951	Abnormality of the skin	7067	THRA	OMIM:614450
HP:0000951	Abnormality of the skin	57511	COG6	OMIM:614576
HP:0000951	Abnormality of the skin	6304	SATB1	OMIM:619229
HP:0000951	Abnormality of the skin	91039	DPP9	OMIM:620331
HP:0000951	Abnormality of the skin	151516	ASPRV1	ORPHA:313
HP:0000951	Abnormality of the skin	242	ALOX12B	ORPHA:313
HP:0000951	Abnormality of the skin	126410	CYP4F22	ORPHA:313
HP:0000951	Abnormality of the skin	6820	SULT2B1	ORPHA:313
HP:0000951	Abnormality of the skin	26154	ABCA12	ORPHA:313
HP:0000951	Abnormality of the skin	643418	LIPN	ORPHA:313
HP:0000951	Abnormality of the skin	59344	ALOXE3	ORPHA:313
HP:0000951	Abnormality of the skin	348938	NIPAL4	ORPHA:313
HP:0000951	Abnormality of the skin	348938	NIPAL4	OMIM:612281
HP:0000951	Abnormality of the skin	121214	SDR9C7	ORPHA:313
HP:0000951	Abnormality of the skin	7051	TGM1	ORPHA:313
HP:0000951	Abnormality of the skin	3643	INSR	OMIM:262190
HP:0000951	Abnormality of the skin	3643	INSR	ORPHA:769
HP:0000951	Abnormality of the skin	2517	FUCA1	OMIM:230000
HP:0000951	Abnormality of the skin	55636	CHD7	ORPHA:39041
HP:0000951	Abnormality of the skin	5896	RAG1	ORPHA:39041
HP:0000951	Abnormality of the skin	5897	RAG2	ORPHA:39041
HP:0000951	Abnormality of the skin	64421	DCLRE1C	ORPHA:39041
HP:0000951	Abnormality of the skin	100	ADA	ORPHA:39041
HP:0000951	Abnormality of the skin	3575	IL7R	ORPHA:39041
HP:0000951	Abnormality of the skin	3561	IL2RG	ORPHA:39041
HP:0000951	Abnormality of the skin	5184	PEPD	ORPHA:742
HP:0000951	Abnormality of the skin	9325	TRIP4	OMIM:617066
HP:0000951	Abnormality of the skin	9325	TRIP4	ORPHA:486815
HP:0000951	Abnormality of the skin	2222	FDFT1	OMIM:618156
HP:0000951	Abnormality of the skin	440138	ALG11	ORPHA:280071
HP:0000951	Abnormality of the skin	91875	TTC5	OMIM:619244
HP:0000951	Abnormality of the skin	3832	KIF11	ORPHA:2526
HP:0000951	Abnormality of the skin	4255	MGMT	ORPHA:618
HP:0000951	Abnormality of the skin	54386	TERF2IP	ORPHA:618
HP:0000951	Abnormality of the skin	65057	ACD	ORPHA:618
HP:0000951	Abnormality of the skin	25913	POT1	ORPHA:618
HP:0000951	Abnormality of the skin	1030	CDKN2B	ORPHA:618
HP:0000951	Abnormality of the skin	9076	CLDN1	OMIM:607626
HP:0000951	Abnormality of the skin	84905	ZNF341	OMIM:618282
HP:0000951	Abnormality of the skin	5264	PHYH	ORPHA:773
HP:0000951	Abnormality of the skin	5191	PEX7	ORPHA:773
HP:0000951	Abnormality of the skin	7480	WNT10B	OMIM:617073
HP:0000951	Abnormality of the skin	1650	DDOST	ORPHA:300536
HP:0000951	Abnormality of the skin	9487	PIGL	OMIM:280000
HP:0000951	Abnormality of the skin	5116	PCNT	ORPHA:2637
HP:0000951	Abnormality of the skin	8815	BANF1	OMIM:614008
HP:0000951	Abnormality of the skin	284058	KANSL1	OMIM:610443
HP:0000951	Abnormality of the skin	8799	PEX11B	OMIM:614920
HP:0000951	Abnormality of the skin	10295	BCKDK	OMIM:614923
HP:0000951	Abnormality of the skin	8481	OFD1	ORPHA:2750
HP:0000951	Abnormality of the skin	4668	NAGA	OMIM:609242
HP:0000951	Abnormality of the skin	5965	RECQL	OMIM:620370
HP:0000951	Abnormality of the skin	4914	NTRK1	ORPHA:642
HP:0000951	Abnormality of the skin	55181	SMG8	OMIM:619268
HP:0000951	Abnormality of the skin	8942	KYNU	ORPHA:79155
HP:0000951	Abnormality of the skin	128674	PROKR2	ORPHA:3157
HP:0000951	Abnormality of the skin	6657	SOX2	ORPHA:3157
HP:0000951	Abnormality of the skin	6658	SOX3	ORPHA:3157
HP:0000951	Abnormality of the skin	9915	ARNT2	ORPHA:3157
HP:0000951	Abnormality of the skin	8820	HESX1	ORPHA:3157
HP:0000951	Abnormality of the skin	5015	OTX2	ORPHA:3157
HP:0000951	Abnormality of the skin	5781	PTPN11	OMIM:163950
HP:0000951	Abnormality of the skin	11005	SPINK5	ORPHA:634
HP:0000951	Abnormality of the skin	54892	NCAPG2	OMIM:618460
HP:0000951	Abnormality of the skin	1859	DYRK1A	ORPHA:268261
HP:0000951	Abnormality of the skin	1859	DYRK1A	OMIM:614104
HP:0000951	Abnormality of the skin	5648	MASP1	OMIM:257920
HP:0000951	Abnormality of the skin	6650	CAPN15	OMIM:619318
HP:0000951	Abnormality of the skin	85358	SHANK3	OMIM:606232
HP:0000951	Abnormality of the skin	6347	CCL2	OMIM:182940
HP:0000951	Abnormality of the skin	81839	VANGL1	OMIM:182940
HP:0000951	Abnormality of the skin	80199	FUZ	OMIM:182940
HP:0000951	Abnormality of the skin	6862	TBXT	OMIM:182940
HP:0000951	Abnormality of the skin	57216	VANGL2	OMIM:182940
HP:0000951	Abnormality of the skin	4076	CAPRIN1	OMIM:620782
HP:0000951	Abnormality of the skin	90459	ERI1	OMIM:620662
HP:0000951	Abnormality of the skin	79783	SUGCT	ORPHA:35706
HP:0000951	Abnormality of the skin	91179	SCARF2	OMIM:600920
HP:0000951	Abnormality of the skin	55209	SETD5	OMIM:615761
HP:0000951	Abnormality of the skin	1725	DHPS	OMIM:618480
HP:0000951	Abnormality of the skin	3190	HNRNPK	OMIM:616580
HP:0000951	Abnormality of the skin	10584	COLEC10	OMIM:248340
HP:0000951	Abnormality of the skin	818	CAMK2G	OMIM:618522
HP:0000951	Abnormality of the skin	3899	AFF3	OMIM:619297
HP:0000951	Abnormality of the skin	9496	TBX4	ORPHA:261279
HP:0000951	Abnormality of the skin	80776	B9D2	OMIM:614175
HP:0000951	Abnormality of the skin	8642	DCHS1	OMIM:601390
HP:0000951	Abnormality of the skin	10522	DEAF1	OMIM:615828
HP:0000951	Abnormality of the skin	10664	CTCF	ORPHA:363611
HP:0000951	Abnormality of the skin	10664	CTCF	OMIM:615502
HP:0000951	Abnormality of the skin	56006	SMG9	OMIM:619995
HP:0000951	Abnormality of the skin	8558	CDK10	OMIM:617694
HP:0000951	Abnormality of the skin	51633	OTUD6B	OMIM:617452
HP:0000951	Abnormality of the skin	51633	OTUD6B	ORPHA:505237
HP:0000951	Abnormality of the skin	1857	DVL3	ORPHA:3107
HP:0000951	Abnormality of the skin	1857	DVL3	OMIM:616894
HP:0000951	Abnormality of the skin	2535	FZD2	ORPHA:3107
HP:0000951	Abnormality of the skin	6134	RPL10	ORPHA:459070
HP:0000951	Abnormality of the skin	54499	TMCO1	OMIM:213980
HP:0000951	Abnormality of the skin	8405	SPOP	OMIM:618828
HP:0000951	Abnormality of the skin	23137	SMC5	OMIM:620185
HP:0000951	Abnormality of the skin	51715	RAB23	OMIM:201000
HP:0000951	Abnormality of the skin	64093	SMOC1	OMIM:206920
HP:0000951	Abnormality of the skin	3090	HIC1	ORPHA:531
HP:0000951	Abnormality of the skin	5048	PAFAH1B1	ORPHA:531
HP:0000951	Abnormality of the skin	7531	YWHAE	ORPHA:531
HP:0000951	Abnormality of the skin	4123	MAN2C1	OMIM:619775
HP:0000951	Abnormality of the skin	57479	PRR12	OMIM:619539
HP:0000951	Abnormality of the skin	5718	PSMD12	OMIM:617516
HP:0000951	Abnormality of the skin	55191	NADSYN1	OMIM:618845
HP:0000951	Abnormality of the skin	23299	BICD2	OMIM:618291
HP:0000951	Abnormality of the skin	6910	TBX5	OMIM:142900
HP:0000951	Abnormality of the skin	94	ACVRL1	OMIM:600376
HP:0000951	Abnormality of the skin	137814	NKX2-6	ORPHA:3384
HP:0000951	Abnormality of the skin	23129	PLXND1	ORPHA:3384
HP:0000951	Abnormality of the skin	51422	PRKAG2	OMIM:261740
HP:0000951	Abnormality of the skin	4625	MYH7	ORPHA:1880
HP:0000951	Abnormality of the skin	2653	GCSH	OMIM:620423
HP:0000951	Abnormality of the skin	5250	SLC25A3	ORPHA:91130
HP:0000951	Abnormality of the skin	5250	SLC25A3	OMIM:610773
HP:0000951	Abnormality of the skin	6334	SCN8A	ORPHA:306
HP:0000951	Abnormality of the skin	112476	PRRT2	ORPHA:306
HP:0000951	Abnormality of the skin	3786	KCNQ3	ORPHA:306
HP:0000951	Abnormality of the skin	6440	SFTPC	OMIM:610913
HP:0000951	Abnormality of the skin	6440	SFTPC	ORPHA:685082
HP:0000951	Abnormality of the skin	6439	SFTPB	OMIM:265120
HP:0000951	Abnormality of the skin	6439	SFTPB	ORPHA:685082
HP:0000951	Abnormality of the skin	7547	ZIC3	OMIM:306955
HP:0000951	Abnormality of the skin	5105	PCK1	OMIM:261680
HP:0000951	Abnormality of the skin	21	ABCA3	OMIM:610921
HP:0000951	Abnormality of the skin	21	ABCA3	ORPHA:685082
HP:0000951	Abnormality of the skin	118856	MMP21	OMIM:616749
HP:0000951	Abnormality of the skin	83480	PUS3	ORPHA:488627
HP:0000951	Abnormality of the skin	1528	CYB5A	OMIM:250790
HP:0000951	Abnormality of the skin	1528	CYB5A	ORPHA:621
HP:0000951	Abnormality of the skin	2898	GRIK2	OMIM:619580
HP:0000951	Abnormality of the skin	788	SLC25A20	ORPHA:159
HP:0000951	Abnormality of the skin	7092	TLL1	ORPHA:99106
HP:0000951	Abnormality of the skin	7092	TLL1	ORPHA:99103
HP:0000951	Abnormality of the skin	3028	HSD17B10	ORPHA:391428
HP:0000951	Abnormality of the skin	5337	PLD1	OMIM:212093
HP:0000951	Abnormality of the skin	57057	TBX20	ORPHA:99103
HP:0000951	Abnormality of the skin	4624	MYH6	ORPHA:99103
HP:0000951	Abnormality of the skin	70	ACTC1	ORPHA:99103
HP:0000951	Abnormality of the skin	10370	CITED2	ORPHA:99103
HP:0000951	Abnormality of the skin	2626	GATA4	ORPHA:99103
HP:0000951	Abnormality of the skin	2627	GATA6	ORPHA:99103
HP:0000951	Abnormality of the skin	1727	CYB5R3	OMIM:250800
HP:0000951	Abnormality of the skin	1727	CYB5R3	ORPHA:621
HP:0000951	Abnormality of the skin	55975	KLHL7	OMIM:617055
HP:0000951	Abnormality of the skin	8021	NUP214	OMIM:618426
HP:0000951	Abnormality of the skin	79770	TXNDC15	OMIM:619879
HP:0000951	Abnormality of the skin	60482	SLC5A7	ORPHA:98914
HP:0000951	Abnormality of the skin	4649	MYO9A	ORPHA:98914
HP:0000951	Abnormality of the skin	1305	COL13A1	ORPHA:98914
HP:0000951	Abnormality of the skin	1305	COL13A1	ORPHA:98913
HP:0000951	Abnormality of the skin	1103	CHAT	ORPHA:98914
HP:0000951	Abnormality of the skin	6576	SLC25A1	ORPHA:98914
HP:0000951	Abnormality of the skin	6843	VAMP1	ORPHA:98914
HP:0000951	Abnormality of the skin	375790	AGRN	ORPHA:98914
HP:0000951	Abnormality of the skin	375790	AGRN	ORPHA:98913
HP:0000951	Abnormality of the skin	127833	SYT2	ORPHA:98914
HP:0000951	Abnormality of the skin	6616	SNAP25	ORPHA:98914
HP:0000951	Abnormality of the skin	6329	SCN4A	ORPHA:98913
HP:0000951	Abnormality of the skin	1134	CHRNA1	ORPHA:98913
HP:0000951	Abnormality of the skin	1140	CHRNB1	ORPHA:98913
HP:0000951	Abnormality of the skin	1144	CHRND	ORPHA:98913
HP:0000951	Abnormality of the skin	1145	CHRNE	ORPHA:98913
HP:0000951	Abnormality of the skin	221264	AK9	ORPHA:98913
HP:0000951	Abnormality of the skin	8241	RBM10	ORPHA:2886
HP:0000951	Abnormality of the skin	4724	NDUFS4	OMIM:252010
HP:0000951	Abnormality of the skin	54916	TMEM260	OMIM:617478
HP:0000951	Abnormality of the skin	10568	SLC34A2	ORPHA:60025
HP:0000951	Abnormality of the skin	826	CAPNS1	OMIM:620777
HP:0000951	Abnormality of the skin	84705	GTPBP3	ORPHA:444013
HP:0000951	Abnormality of the skin	23586	RIGI	OMIM:616298
HP:0000951	Abnormality of the skin	63916	ELMO2	ORPHA:3019
HP:0000951	Abnormality of the skin	55780	ERMARD	ORPHA:75857
HP:0000951	Abnormality of the skin	2717	GLA	ORPHA:324
HP:0000951	Abnormality of the skin	10013	HDAC6	ORPHA:163966
HP:0000951	Abnormality of the skin	5422	POLA1	OMIM:301220
HP:0000951	Abnormality of the skin	1174	AP1S1	ORPHA:171851
HP:0000951	Abnormality of the skin	7227	TRPS1	OMIM:190351
HP:0000951	Abnormality of the skin	2744	GLS	OMIM:618339
HP:0000951	Abnormality of the skin	29969	MDFIC	OMIM:620014
HP:0000951	Abnormality of the skin	7424	VEGFC	OMIM:615907
HP:0000951	Abnormality of the skin	23394	ADNP	OMIM:615873
HP:0000951	Abnormality of the skin	89910	UBE3B	OMIM:244450
HP:0000951	Abnormality of the skin	2332	FMR1	ORPHA:449291
HP:0000951	Abnormality of the skin	4998	ORC1	OMIM:224690
HP:0000951	Abnormality of the skin	1147	CHUK	OMIM:613630
HP:0000951	Abnormality of the skin	375	ARF1	ORPHA:98892
HP:0000951	Abnormality of the skin	4131	MAP1B	ORPHA:98892
HP:0000951	Abnormality of the skin	23327	NEDD4L	ORPHA:98892
HP:0000951	Abnormality of the skin	160418	TMTC3	ORPHA:98892
HP:0000951	Abnormality of the skin	10564	ARFGEF2	ORPHA:98892
HP:0000951	Abnormality of the skin	22907	DHX30	OMIM:617804
HP:0000951	Abnormality of the skin	435	ASL	ORPHA:23
HP:0000951	Abnormality of the skin	26960	NBEA	OMIM:619157
HP:0000951	Abnormality of the skin	6777	STAT5B	OMIM:618985
HP:0000951	Abnormality of the skin	9759	HDAC4	ORPHA:1001
HP:0000951	Abnormality of the skin	9759	HDAC4	OMIM:600430
HP:0000951	Abnormality of the skin	57122	NUP107	OMIM:618348
HP:0000951	Abnormality of the skin	4522	MTHFD1	OMIM:617780
HP:0000951	Abnormality of the skin	3021	H3-3B	OMIM:619721
HP:0000951	Abnormality of the skin	841	CASP8	OMIM:607271
HP:0000951	Abnormality of the skin	8456	FOXN1	ORPHA:83471
HP:0000951	Abnormality of the skin	134218	DNAJC21	ORPHA:811
HP:0000951	Abnormality of the skin	134218	DNAJC21	OMIM:617052
HP:0000951	Abnormality of the skin	79631	EFL1	ORPHA:811
HP:0000951	Abnormality of the skin	51119	SBDS	ORPHA:811
HP:0000951	Abnormality of the skin	7175	TPR	OMIM:620393
HP:0000951	Abnormality of the skin	7780	SLC30A2	OMIM:608118
HP:0000951	Abnormality of the skin	6601	SMARCC2	OMIM:618362
HP:0000951	Abnormality of the skin	10616	RBCK1	OMIM:615895
HP:0000951	Abnormality of the skin	3572	IL6ST	OMIM:618523
HP:0000951	Abnormality of the skin	3572	IL6ST	OMIM:619751
HP:0000951	Abnormality of the skin	686	BTD	ORPHA:79241
HP:0000951	Abnormality of the skin	3117	HLA-DQA1	OMIM:212750
HP:0000951	Abnormality of the skin	6821	SUOX	OMIM:272300
HP:0000951	Abnormality of the skin	5095	PCCA	OMIM:606054
HP:0000951	Abnormality of the skin	5096	PCCB	OMIM:606054
HP:0000951	Abnormality of the skin	4478	MSN	OMIM:300988
HP:0000951	Abnormality of the skin	26053	AUTS2	ORPHA:352490
HP:0000951	Abnormality of the skin	51428	DDX41	OMIM:616871
HP:0000951	Abnormality of the skin	93627	TBCK	ORPHA:488632
HP:0000951	Abnormality of the skin	267010	RNU12	ORPHA:85199
HP:0000951	Abnormality of the skin	25942	SIN3A	OMIM:613406
HP:0000951	Abnormality of the skin	64864	RFX7	OMIM:620330
HP:0000951	Abnormality of the skin	10043	TOM1	OMIM:619510
HP:0000951	Abnormality of the skin	25914	RTTN	ORPHA:468631
HP:0000951	Abnormality of the skin	6595	SMARCA2	ORPHA:3051
HP:0000951	Abnormality of the skin	6595	SMARCA2	OMIM:601358
HP:0000951	Abnormality of the skin	6872	TAF1	OMIM:300966
HP:0000951	Abnormality of the skin	5294	PIK3CG	OMIM:619802
HP:0000951	Abnormality of the skin	917	CD3G	OMIM:615607
HP:0000951	Abnormality of the skin	23387	SIK3	OMIM:618162
HP:0000951	Abnormality of the skin	3978	LIG1	OMIM:619774
HP:0000951	Abnormality of the skin	5879	RAC1	OMIM:617751
HP:0000951	Abnormality of the skin	5879	RAC1	ORPHA:500159
HP:0000951	Abnormality of the skin	2678	GGT1	OMIM:231950
HP:0000951	Abnormality of the skin	203190	LGI3	OMIM:620007
HP:0000951	Abnormality of the skin	56160	NSMCE3	OMIM:617241
HP:0000951	Abnormality of the skin	9126	SMC3	ORPHA:199
HP:0000951	Abnormality of the skin	9126	SMC3	OMIM:610759
HP:0000951	Abnormality of the skin	8243	SMC1A	ORPHA:199
HP:0000951	Abnormality of the skin	8243	SMC1A	OMIM:300590
HP:0000951	Abnormality of the skin	6878	TAF6	ORPHA:199
HP:0000951	Abnormality of the skin	25836	NIPBL	ORPHA:199
HP:0000951	Abnormality of the skin	25836	NIPBL	OMIM:122470
HP:0000951	Abnormality of the skin	5885	RAD21	ORPHA:199
HP:0000951	Abnormality of the skin	5885	RAD21	OMIM:614701
HP:0000951	Abnormality of the skin	2982	GUCY1A1	OMIM:615750
HP:0000951	Abnormality of the skin	2982	GUCY1A1	ORPHA:401945
HP:0000951	Abnormality of the skin	189	AGXT	OMIM:259900
HP:0000951	Abnormality of the skin	8364	H4C3	OMIM:619758
HP:0000951	Abnormality of the skin	4629	MYH11	ORPHA:229
HP:0000951	Abnormality of the skin	4629	MYH11	ORPHA:91387
HP:0000951	Abnormality of the skin	10274	STAG1	ORPHA:502434
HP:0000951	Abnormality of the skin	4774	NFIA	OMIM:613735
HP:0000951	Abnormality of the skin	4774	NFIA	ORPHA:401986
HP:0000951	Abnormality of the skin	10060	ABCC9	OMIM:619719
HP:0000951	Abnormality of the skin	79068	FTO	OMIM:612938
HP:0000951	Abnormality of the skin	57492	ARID1B	OMIM:135900
HP:0000951	Abnormality of the skin	1663	DDX11	OMIM:613398
HP:0000951	Abnormality of the skin	59	ACTA2	ORPHA:91387
HP:0000951	Abnormality of the skin	5592	PRKG1	ORPHA:91387
HP:0000951	Abnormality of the skin	2301	FOXE3	ORPHA:91387
HP:0000951	Abnormality of the skin	4144	MAT2A	ORPHA:91387
HP:0000951	Abnormality of the skin	23493	HEY2	ORPHA:91387
HP:0000951	Abnormality of the skin	8076	MFAP5	ORPHA:91387
HP:0000951	Abnormality of the skin	4638	MYLK	ORPHA:91387
HP:0000951	Abnormality of the skin	79875	THSD4	ORPHA:91387
HP:0000951	Abnormality of the skin	9898	UBAP2L	OMIM:620494
HP:0000951	Abnormality of the skin	54809	SAMD9	OMIM:617053
HP:0000951	Abnormality of the skin	5335	PLCG1	OMIM:620514
HP:0000951	Abnormality of the skin	11274	USP18	OMIM:617397
HP:0000951	Abnormality of the skin	55340	GIMAP5	OMIM:619463
HP:0000951	Abnormality of the skin	4069	LYZ	OMIM:620658
HP:0000951	Abnormality of the skin	64858	DCLRE1B	OMIM:620133
HP:0000951	Abnormality of the skin	8313	AXIN2	ORPHA:401911
HP:0000951	Abnormality of the skin	83999	KREMEN1	OMIM:617392
HP:0000951	Abnormality of the skin	132884	EVC2	OMIM:225500
HP:0000951	Abnormality of the skin	2121	EVC	OMIM:225500
HP:0000951	Abnormality of the skin	84876	ORAI1	OMIM:612782
HP:0000951	Abnormality of the skin	5818	NECTIN1	OMIM:225060
HP:0000951	Abnormality of the skin	5818	NECTIN1	ORPHA:3253
HP:0000951	Abnormality of the skin	81607	NECTIN4	OMIM:613573
HP:0000951	Abnormality of the skin	57539	WDR35	OMIM:613610
HP:0000951	Abnormality of the skin	55764	IFT122	OMIM:218330
HP:0000951	Abnormality of the skin	3229	HOXC13	OMIM:614931
HP:0000951	Abnormality of the skin	3891	KRT85	OMIM:602032
HP:0000951	Abnormality of the skin	10159	ATP6AP2	OMIM:301045
HP:0000951	Abnormality of the skin	11253	MAN1B1	ORPHA:397941
HP:0000951	Abnormality of the skin	11253	MAN1B1	OMIM:614202
HP:0000951	Abnormality of the skin	8425	LTBP4	OMIM:613177
HP:0000951	Abnormality of the skin	10653	SPINT2	OMIM:270420
HP:0000951	Abnormality of the skin	388015	RTL1	ORPHA:96334
HP:0000951	Abnormality of the skin	8788	DLK1	ORPHA:96334
HP:0000951	Abnormality of the skin	55384	MEG3	ORPHA:96334
HP:0000951	Abnormality of the skin	10225	CD96	OMIM:211750
HP:0000951	Abnormality of the skin	6197	RPS6KA3	OMIM:303600
HP:0000951	Abnormality of the skin	537	ATP6AP1	OMIM:300972
HP:0000951	Abnormality of the skin	51594	NBAS	OMIM:614800
HP:0000951	Abnormality of the skin	9056	SLC7A7	OMIM:222700
HP:0000951	Abnormality of the skin	9469	CHST3	OMIM:245600
HP:0000951	Abnormality of the skin	26229	B3GAT3	OMIM:245600
HP:0000951	Abnormality of the skin	9742	IFT140	OMIM:266920
HP:0000951	Abnormality of the skin	25871	NEPRO	OMIM:618853
HP:0000951	Abnormality of the skin	1954	MEGF8	OMIM:614976
HP:0000951	Abnormality of the skin	7528	YY1	ORPHA:506358
HP:0000951	Abnormality of the skin	10000	AKT3	OMIM:615937
HP:0000951	Abnormality of the skin	7058	THBS2	OMIM:620865
HP:0000951	Abnormality of the skin	1836	SLC26A2	ORPHA:628
HP:0000951	Abnormality of the skin	79813	EHMT1	ORPHA:261652
HP:0000951	Abnormality of the skin	58508	KMT2C	ORPHA:261652
HP:0000951	Abnormality of the skin	79971	WLS	OMIM:619648
HP:0000951	Abnormality of the skin	91252	SLC39A13	ORPHA:157965
HP:0000951	Abnormality of the skin	91252	SLC39A13	OMIM:612350
HP:0000951	Abnormality of the skin	2245	FGD1	ORPHA:915
HP:0000951	Abnormality of the skin	3835	KIF22	OMIM:603546
HP:0000951	Abnormality of the skin	81031	SLC2A10	OMIM:208050
HP:0000951	Abnormality of the skin	5351	PLOD1	OMIM:225400
HP:0000951	Abnormality of the skin	54453	RIN2	OMIM:613075
HP:0000951	Abnormality of the skin	1290	COL5A2	OMIM:130010
HP:0000951	Abnormality of the skin	54496	PRMT7	OMIM:617157
HP:0000951	Abnormality of the skin	9091	PIGQ	OMIM:618548
HP:0000951	Abnormality of the skin	6678	SPARC	OMIM:616507
HP:0000951	Abnormality of the skin	5076	PAX2	OMIM:120330
HP:0000951	Abnormality of the skin	4125	MAN2B1	ORPHA:309282
HP:0000951	Abnormality of the skin	7148	TNXB	OMIM:606408
HP:0000951	Abnormality of the skin	715	C1R	OMIM:130080
HP:0000951	Abnormality of the skin	4507	MTAP	OMIM:112250
HP:0000951	Abnormality of the skin	6885	MAP3K7	OMIM:157800
HP:0000951	Abnormality of the skin	25	ABL1	OMIM:617602
HP:0000951	Abnormality of the skin	55033	FKBP14	OMIM:614557
HP:0000951	Abnormality of the skin	526	ATP6V1B2	ORPHA:3473
HP:0000951	Abnormality of the skin	3756	KCNH1	ORPHA:3473
HP:0000951	Abnormality of the skin	3782	KCNN3	ORPHA:3473
HP:0000951	Abnormality of the skin	7042	TGFB2	OMIM:614816
HP:0000951	Abnormality of the skin	51085	MLXIPL	OMIM:194050
HP:0000951	Abnormality of the skin	11107	PRDM5	ORPHA:90354
HP:0000951	Abnormality of the skin	84627	ZNF469	ORPHA:90354
HP:0000951	Abnormality of the skin	2811	GP1BA	OMIM:153670
HP:0000951	Abnormality of the skin	2811	GP1BA	ORPHA:274
HP:0000951	Abnormality of the skin	2815	GP9	ORPHA:274
HP:0000951	Abnormality of the skin	2266	FGG	OMIM:202400
HP:0000951	Abnormality of the skin	2244	FGB	OMIM:202400
HP:0000951	Abnormality of the skin	2158	F9	OMIM:306900
HP:0000951	Abnormality of the skin	2120	ETV6	OMIM:616216
HP:0000951	Abnormality of the skin	10235	RASGRP2	OMIM:615888
HP:0000951	Abnormality of the skin	23218	NBEAL2	OMIM:139090
HP:0000951	Abnormality of the skin	23218	NBEAL2	ORPHA:721
HP:0000951	Abnormality of the skin	51206	GP6	OMIM:614201
HP:0000951	Abnormality of the skin	3674	ITGA2B	ORPHA:849
HP:0000951	Abnormality of the skin	3674	ITGA2B	OMIM:273800
HP:0000951	Abnormality of the skin	3690	ITGB3	ORPHA:849
HP:0000951	Abnormality of the skin	3690	ITGB3	OMIM:619267
HP:0000951	Abnormality of the skin	90993	CREB3L1	OMIM:616229
HP:0000951	Abnormality of the skin	2159	F10	ORPHA:328
HP:0000951	Abnormality of the skin	9103	FCGR2C	ORPHA:3002
HP:0000951	Abnormality of the skin	2155	F7	ORPHA:327
HP:0000951	Abnormality of the skin	2155	F7	OMIM:227500
HP:0000951	Abnormality of the skin	4627	MYH9	OMIM:155100
HP:0000951	Abnormality of the skin	4627	MYH9	ORPHA:182050
HP:0000951	Abnormality of the skin	22852	ANKRD26	OMIM:188000
HP:0000951	Abnormality of the skin	8985	PLOD3	OMIM:612394
HP:0000951	Abnormality of the skin	5328	PLAU	OMIM:601709
HP:0000951	Abnormality of the skin	342618	SLFN14	OMIM:616913
HP:0000951	Abnormality of the skin	7450	VWF	OMIM:193400
HP:0000951	Abnormality of the skin	7450	VWF	OMIM:613554
HP:0000951	Abnormality of the skin	7450	VWF	OMIM:277480
HP:0000951	Abnormality of the skin	64805	P2RY12	OMIM:609821
HP:0000951	Abnormality of the skin	5345	SERPINF2	ORPHA:79
HP:0000951	Abnormality of the skin	5345	SERPINF2	OMIM:262850
HP:0000951	Abnormality of the skin	3998	LMAN1	ORPHA:35909
HP:0000951	Abnormality of the skin	90411	MCFD2	ORPHA:35909
HP:0000951	Abnormality of the skin	200931	SLC51A	OMIM:619484
HP:0000951	Abnormality of the skin	10020	GNE	OMIM:620757
HP:0000951	Abnormality of the skin	11117	EMILIN1	OMIM:620080
HP:0000951	Abnormality of the skin	6915	TBXA2R	OMIM:614009
HP:0000951	Abnormality of the skin	2147	F2	OMIM:613679
HP:0000951	Abnormality of the skin	7171	TPM4	OMIM:620486
HP:0000951	Abnormality of the skin	5795	PTPRJ	OMIM:620484
HP:0000951	Abnormality of the skin	5371	PML	ORPHA:520
HP:0000951	Abnormality of the skin	5914	RARA	ORPHA:520
HP:0000951	Abnormality of the skin	81608	FIP1L1	ORPHA:520
HP:0000951	Abnormality of the skin	64859	NABP1	ORPHA:520
HP:0000951	Abnormality of the skin	4926	NUMA1	ORPHA:520
HP:0000951	Abnormality of the skin	7704	ZBTB16	ORPHA:520
HP:0000951	Abnormality of the skin	8328	GFI1B	OMIM:187900
HP:0000951	Abnormality of the skin	975	CD81	OMIM:613496
HP:0000951	Abnormality of the skin	975	CD81	ORPHA:1572
HP:0000951	Abnormality of the skin	3673	ITGA2	ORPHA:853
HP:0000951	Abnormality of the skin	135228	CD109	ORPHA:853
HP:0000951	Abnormality of the skin	2533	FYB1	OMIM:273900
HP:0000951	Abnormality of the skin	717	C2	OMIM:217000
HP:0000951	Abnormality of the skin	23495	TNFRSF13B	ORPHA:1572
HP:0000951	Abnormality of the skin	115650	TNFRSF13C	ORPHA:1572
HP:0000951	Abnormality of the skin	8742	TNFSF12	ORPHA:1572
HP:0000951	Abnormality of the skin	930	CD19	ORPHA:1572
HP:0000951	Abnormality of the skin	29851	ICOS	ORPHA:1572
HP:0000951	Abnormality of the skin	931	MS4A1	ORPHA:1572
HP:0000951	Abnormality of the skin	3207	HOXA11	OMIM:605432
HP:0000951	Abnormality of the skin	10878	CFHR3	OMIM:235400
HP:0000951	Abnormality of the skin	3078	CFHR1	OMIM:235400
HP:0000951	Abnormality of the skin	3155	HMGCL	ORPHA:20
HP:0000951	Abnormality of the skin	3155	HMGCL	OMIM:246450
HP:0000951	Abnormality of the skin	6513	SLC2A1	ORPHA:64280
HP:0000951	Abnormality of the skin	2562	GABRB3	ORPHA:64280
HP:0000951	Abnormality of the skin	2554	GABRA1	ORPHA:64280
HP:0000951	Abnormality of the skin	2554	GABRA1	ORPHA:33069
HP:0000951	Abnormality of the skin	8912	CACNA1H	ORPHA:64280
HP:0000951	Abnormality of the skin	8629	JRK	ORPHA:64280
HP:0000951	Abnormality of the skin	2566	GABRG2	ORPHA:64280
HP:0000951	Abnormality of the skin	2566	GABRG2	ORPHA:33069
HP:0000951	Abnormality of the skin	8573	CASK	OMIM:300908
HP:0000951	Abnormality of the skin	2539	G6PD	OMIM:300908
HP:0000951	Abnormality of the skin	55240	STEAP3	OMIM:615234
HP:0000951	Abnormality of the skin	55240	STEAP3	ORPHA:300298
HP:0000951	Abnormality of the skin	84529	CDIN1	OMIM:615631
HP:0000951	Abnormality of the skin	55624	POMGNT1	OMIM:253280
HP:0000951	Abnormality of the skin	811	CALR	ORPHA:824
HP:0000951	Abnormality of the skin	811	CALR	OMIM:254450
HP:0000951	Abnormality of the skin	4352	MPL	ORPHA:824
HP:0000951	Abnormality of the skin	4352	MPL	OMIM:254450
HP:0000951	Abnormality of the skin	3717	JAK2	ORPHA:824
HP:0000951	Abnormality of the skin	3717	JAK2	OMIM:254450
HP:0000951	Abnormality of the skin	57679	ALS2	OMIM:606353
HP:0000951	Abnormality of the skin	113235	SLC46A1	ORPHA:90045
HP:0000951	Abnormality of the skin	2038	EPB42	ORPHA:822
HP:0000951	Abnormality of the skin	6521	SLC4A1	ORPHA:822
HP:0000951	Abnormality of the skin	6521	SLC4A1	OMIM:611590
HP:0000951	Abnormality of the skin	6710	SPTB	ORPHA:822
HP:0000951	Abnormality of the skin	6708	SPTA1	ORPHA:822
HP:0000951	Abnormality of the skin	286	ANK1	ORPHA:822
HP:0000951	Abnormality of the skin	23451	SF3B1	ORPHA:75564
HP:0000951	Abnormality of the skin	10312	TCIRG1	ORPHA:667
HP:0000951	Abnormality of the skin	1186	CLCN7	ORPHA:667
HP:0000951	Abnormality of the skin	29887	SNX10	ORPHA:667
HP:0000951	Abnormality of the skin	8600	TNFSF11	ORPHA:667
HP:0000951	Abnormality of the skin	3073	HEXA	OMIM:272800
HP:0000951	Abnormality of the skin	9227	LRAT	OMIM:613341
HP:0000951	Abnormality of the skin	60509	AGBL5	OMIM:617023
HP:0000951	Abnormality of the skin	123016	TTC8	OMIM:613464
HP:0000951	Abnormality of the skin	64072	CDH23	ORPHA:2965
HP:0000951	Abnormality of the skin	64072	CDH23	ORPHA:91347
HP:0000951	Abnormality of the skin	9049	AIP	ORPHA:2965
HP:0000951	Abnormality of the skin	3043	HBB	ORPHA:90039
HP:0000951	Abnormality of the skin	3043	HBB	ORPHA:46532
HP:0000951	Abnormality of the skin	3043	HBB	ORPHA:231214
HP:0000951	Abnormality of the skin	3043	HBB	ORPHA:231222
HP:0000951	Abnormality of the skin	3043	HBB	ORPHA:231226
HP:0000951	Abnormality of the skin	6833	ABCC8	ORPHA:276575
HP:0000951	Abnormality of the skin	3767	KCNJ11	ORPHA:276580
HP:0000951	Abnormality of the skin	8029	CUBN	ORPHA:35858
HP:0000951	Abnormality of the skin	81693	AMN	ORPHA:35858
HP:0000951	Abnormality of the skin	55154	MSTO1	OMIM:617675
HP:0000951	Abnormality of the skin	7428	VHL	ORPHA:276621
HP:0000951	Abnormality of the skin	7428	VHL	ORPHA:29072
HP:0000951	Abnormality of the skin	7428	VHL	ORPHA:892
HP:0000951	Abnormality of the skin	5979	RET	ORPHA:276621
HP:0000951	Abnormality of the skin	5979	RET	ORPHA:29072
HP:0000951	Abnormality of the skin	1788	DNMT3A	ORPHA:276621
HP:0000951	Abnormality of the skin	2034	EPAS1	ORPHA:276621
HP:0000951	Abnormality of the skin	8131	NPRL3	ORPHA:98820
HP:0000951	Abnormality of the skin	10641	NPRL2	ORPHA:98820
HP:0000951	Abnormality of the skin	9681	DEPDC5	ORPHA:98820
HP:0000951	Abnormality of the skin	5805	PTS	ORPHA:13
HP:0000951	Abnormality of the skin	5313	PKLR	OMIM:266200
HP:0000951	Abnormality of the skin	22	ABCB7	OMIM:301310
HP:0000951	Abnormality of the skin	1001	CDH3	OMIM:601553
HP:0000951	Abnormality of the skin	212	ALAS2	ORPHA:75563
HP:0000951	Abnormality of the skin	80324	PUS1	OMIM:600462
HP:0000951	Abnormality of the skin	3172	HNF4A	ORPHA:263455
HP:0000951	Abnormality of the skin	773	CACNA1A	ORPHA:71518
HP:0000951	Abnormality of the skin	773	CACNA1A	ORPHA:2131
HP:0000951	Abnormality of the skin	3039	HBA1	ORPHA:163596
HP:0000951	Abnormality of the skin	3040	HBA2	ORPHA:163596
HP:0000951	Abnormality of the skin	10661	KLF1	ORPHA:46532
HP:0000951	Abnormality of the skin	3047	HBG1	ORPHA:46532
HP:0000951	Abnormality of the skin	3048	HBG2	ORPHA:46532
HP:0000951	Abnormality of the skin	595	CCND1	ORPHA:29073
HP:0000951	Abnormality of the skin	595	CCND1	ORPHA:892
HP:0000951	Abnormality of the skin	84839	RAX2	OMIM:610381
HP:0000951	Abnormality of the skin	10019	SH2B3	OMIM:254450
HP:0000951	Abnormality of the skin	4519	MT-CYB	ORPHA:137675
HP:0000951	Abnormality of the skin	1743	DLST	ORPHA:29072
HP:0000951	Abnormality of the skin	4191	MDH2	ORPHA:29072
HP:0000951	Abnormality of the skin	6389	SDHA	ORPHA:29072
HP:0000951	Abnormality of the skin	23095	KIF1B	ORPHA:29072
HP:0000951	Abnormality of the skin	8402	SLC25A11	ORPHA:29072
HP:0000951	Abnormality of the skin	54949	SDHAF2	ORPHA:29072
HP:0000951	Abnormality of the skin	55654	TMEM127	ORPHA:29072
HP:0000951	Abnormality of the skin	4149	MAX	ORPHA:29072
HP:0000951	Abnormality of the skin	6507	SLC1A3	ORPHA:2131
HP:0000951	Abnormality of the skin	477	ATP1A2	ORPHA:2131
HP:0000951	Abnormality of the skin	478	ATP1A3	ORPHA:2131
HP:0000951	Abnormality of the skin	6335	SCN9A	ORPHA:33069
HP:0000951	Abnormality of the skin	6323	SCN1A	ORPHA:33069
HP:0000951	Abnormality of the skin	6324	SCN1B	ORPHA:33069
HP:0000951	Abnormality of the skin	57526	PCDH19	ORPHA:33069
HP:0000951	Abnormality of the skin	4976	OPA1	OMIM:165500
HP:0000951	Abnormality of the skin	2203	FBP1	ORPHA:348
HP:0000951	Abnormality of the skin	1303	COL12A1	ORPHA:536516
HP:0000951	Abnormality of the skin	374879	ZNF699	OMIM:619488
HP:0000951	Abnormality of the skin	2035	EPB41	OMIM:611804
HP:0000951	Abnormality of the skin	38	ACAT1	ORPHA:134
HP:0000951	Abnormality of the skin	9493	KIF23	ORPHA:98870
HP:0000951	Abnormality of the skin	29127	RACGAP1	ORPHA:98870
HP:0000951	Abnormality of the skin	3785	KCNQ2	ORPHA:439218
HP:0000951	Abnormality of the skin	57728	WDR19	OMIM:616307
HP:0000951	Abnormality of the skin	27249	MMADHC	ORPHA:79283
HP:0000951	Abnormality of the skin	2624	GATA2	ORPHA:228423
HP:0000951	Abnormality of the skin	84233	TMEM126A	OMIM:612989
HP:0000951	Abnormality of the skin	1719	DHFR	OMIM:613839
HP:0000951	Abnormality of the skin	6138	RPL15	ORPHA:124
HP:0000951	Abnormality of the skin	6165	RPL35A	ORPHA:124
HP:0000951	Abnormality of the skin	6132	RPL8	ORPHA:124
HP:0000951	Abnormality of the skin	6232	RPS27	ORPHA:124
HP:0000951	Abnormality of the skin	55027	HEATR3	ORPHA:124
HP:0000951	Abnormality of the skin	6160	RPL31	ORPHA:124
HP:0000951	Abnormality of the skin	6201	RPS7	ORPHA:124
HP:0000951	Abnormality of the skin	6155	RPL27	ORPHA:124
HP:0000951	Abnormality of the skin	6234	RPS28	ORPHA:124
HP:0000951	Abnormality of the skin	6135	RPL11	ORPHA:124
HP:0000951	Abnormality of the skin	6229	RPS24	ORPHA:124
HP:0000951	Abnormality of the skin	6125	RPL5	ORPHA:124
HP:0000951	Abnormality of the skin	6204	RPS10	ORPHA:124
HP:0000951	Abnormality of the skin	6133	RPL9	ORPHA:124
HP:0000951	Abnormality of the skin	6231	RPS26	ORPHA:124
HP:0000951	Abnormality of the skin	11224	RPL35	ORPHA:124
HP:0000951	Abnormality of the skin	6218	RPS17	ORPHA:124
HP:0000951	Abnormality of the skin	6154	RPL26	ORPHA:124
HP:0000951	Abnormality of the skin	6210	RPS15A	ORPHA:124
HP:0000951	Abnormality of the skin	90121	TSR2	ORPHA:124
HP:0000951	Abnormality of the skin	6141	RPL18	ORPHA:124
HP:0000951	Abnormality of the skin	6235	RPS29	ORPHA:124
HP:0000951	Abnormality of the skin	51816	ADA2	ORPHA:124
HP:0000951	Abnormality of the skin	4615	MYD88	ORPHA:33226
HP:0000951	Abnormality of the skin	6927	HNF1A	ORPHA:324575
HP:0000951	Abnormality of the skin	51067	YARS2	OMIM:613561
HP:0000951	Abnormality of the skin	7351	UCP2	ORPHA:276556
HP:0000951	Abnormality of the skin	8517	IKBKG	OMIM:308300
HP:0000951	Abnormality of the skin	5052	PRDX1	OMIM:277400
HP:0000951	Abnormality of the skin	25974	MMACHC	OMIM:277400
HP:0000951	Abnormality of the skin	1824	DSC2	OMIM:610476
HP:0000951	Abnormality of the skin	25959	KANK2	OMIM:616099
HP:0000951	Abnormality of the skin	57192	MCOLN1	ORPHA:578
HP:0000951	Abnormality of the skin	7020	TFAP2A	OMIM:113620
HP:0000951	Abnormality of the skin	7020	TFAP2A	ORPHA:1297
HP:0000951	Abnormality of the skin	10526	IPO8	ORPHA:60030
HP:0000951	Abnormality of the skin	7043	TGFB3	ORPHA:60030
HP:0000951	Abnormality of the skin	23385	NCSTN	OMIM:142690
HP:0000951	Abnormality of the skin	90268	OTULIN	OMIM:617099
HP:0000951	Abnormality of the skin	144811	LACC1	ORPHA:85414
HP:0000951	Abnormality of the skin	144811	LACC1	OMIM:618795
HP:0000951	Abnormality of the skin	4282	MIF	ORPHA:85414
HP:0000951	Abnormality of the skin	8737	RIPK1	OMIM:618108
HP:0000951	Abnormality of the skin	58484	NLRC4	OMIM:616050
HP:0000951	Abnormality of the skin	55788	LMBRD1	OMIM:277380
HP:0000951	Abnormality of the skin	55788	LMBRD1	ORPHA:79284
HP:0000951	Abnormality of the skin	5698	PSMB9	OMIM:620796
HP:0000951	Abnormality of the skin	5994	RFXAP	ORPHA:572
HP:0000951	Abnormality of the skin	4261	CIITA	ORPHA:572
HP:0000951	Abnormality of the skin	5993	RFX5	ORPHA:572
HP:0000951	Abnormality of the skin	8625	RFXANK	ORPHA:572
HP:0000951	Abnormality of the skin	5699	PSMB10	OMIM:619175
HP:0000951	Abnormality of the skin	340061	STING1	OMIM:615934
HP:0000951	Abnormality of the skin	10095	ARPC1B	OMIM:617718
HP:0000951	Abnormality of the skin	7010	TEK	ORPHA:1059
HP:0000951	Abnormality of the skin	23152	CIC	OMIM:617600
HP:0000951	Abnormality of the skin	84701	COX4I2	OMIM:612714
HP:0000951	Abnormality of the skin	2243	FGA	OMIM:105200
HP:0000951	Abnormality of the skin	5971	RELB	OMIM:617585
HP:0000951	Abnormality of the skin	5788	PTPRC	OMIM:619924
HP:0000951	Abnormality of the skin	91662	NLRP12	OMIM:611762
HP:0000951	Abnormality of the skin	5692	PSMB4	OMIM:617591
HP:0000951	Abnormality of the skin	3937	LCP2	OMIM:619374
HP:0000951	Abnormality of the skin	6850	SYK	OMIM:619381
HP:0000951	Abnormality of the skin	2000	ELF4	OMIM:301074
HP:0000951	Abnormality of the skin	10892	MALT1	OMIM:615468
HP:0000951	Abnormality of the skin	9181	ARHGEF2	OMIM:617523
HP:0000951	Abnormality of the skin	7066	THPO	ORPHA:71493
HP:0000951	Abnormality of the skin	2235	FECH	OMIM:177000
HP:0000951	Abnormality of the skin	2235	FECH	ORPHA:79278
HP:0000951	Abnormality of the skin	6809	STX3	ORPHA:2290
HP:0000951	Abnormality of the skin	4645	MYO5B	ORPHA:2290
HP:0000951	Abnormality of the skin	4645	MYO5B	OMIM:619868
HP:0000951	Abnormality of the skin	5156	PDGFRA	OMIM:607685
HP:0000951	Abnormality of the skin	2057	EPOR	ORPHA:90042
HP:0000951	Abnormality of the skin	1776	DNASE1L3	ORPHA:36412
HP:0000951	Abnormality of the skin	80270	HSD3B7	ORPHA:79301
HP:0000951	Abnormality of the skin	5314	PKHD1	ORPHA:53035
HP:0000951	Abnormality of the skin	7512	XPNPEP2	ORPHA:100057
HP:0000951	Abnormality of the skin	10999	SLC27A4	OMIM:608649
HP:0000951	Abnormality of the skin	84936	ZFYVE19	OMIM:619849
HP:0000951	Abnormality of the skin	5774	PTPN3	ORPHA:70567
HP:0000951	Abnormality of the skin	6098	ROS1	ORPHA:70567
HP:0000951	Abnormality of the skin	8647	ABCB11	OMIM:601847
HP:0000951	Abnormality of the skin	8647	ABCB11	OMIM:605479
HP:0000951	Abnormality of the skin	8647	ABCB11	ORPHA:69665
HP:0000951	Abnormality of the skin	51473	DCDC2	OMIM:617394
HP:0000951	Abnormality of the skin	2859	GPR35	ORPHA:171
HP:0000951	Abnormality of the skin	10507	SEMA4D	ORPHA:171
HP:0000951	Abnormality of the skin	4485	MST1	ORPHA:171
HP:0000951	Abnormality of the skin	6925	TCF4	ORPHA:171
HP:0000951	Abnormality of the skin	114548	NLRP3	ORPHA:47045
HP:0000951	Abnormality of the skin	11280	SCN11A	ORPHA:90026
HP:0000951	Abnormality of the skin	11280	SCN11A	OMIM:615548
HP:0000951	Abnormality of the skin	6336	SCN10A	ORPHA:90026
HP:0000951	Abnormality of the skin	6768	ST14	OMIM:602400
HP:0000951	Abnormality of the skin	54795	TRPM4	OMIM:618531
HP:0000951	Abnormality of the skin	5244	ABCB4	OMIM:614972
HP:0000951	Abnormality of the skin	5244	ABCB4	OMIM:602347
HP:0000951	Abnormality of the skin	5244	ABCB4	ORPHA:69665
HP:0000951	Abnormality of the skin	63894	VIPAS39	OMIM:613404
HP:0000951	Abnormality of the skin	2313	FLI1	ORPHA:370348
HP:0000951	Abnormality of the skin	57003	CCDC47	OMIM:618268
HP:0000951	Abnormality of the skin	8482	SEMA7A	OMIM:619874
HP:0000951	Abnormality of the skin	1041	CDSN	ORPHA:90368
HP:0000951	Abnormality of the skin	1041	CDSN	OMIM:270300
HP:0000951	Abnormality of the skin	11012	KLK11	OMIM:620507
HP:0000951	Abnormality of the skin	540	ATP7B	ORPHA:905
HP:0000951	Abnormality of the skin	5336	PLCG2	OMIM:614468
HP:0000951	Abnormality of the skin	5205	ATP8B1	OMIM:211600
HP:0000951	Abnormality of the skin	5205	ATP8B1	ORPHA:69665
HP:0000951	Abnormality of the skin	5205	ATP8B1	OMIM:243300
HP:0000951	Abnormality of the skin	5205	ATP8B1	OMIM:147480
HP:0000951	Abnormality of the skin	3594	IL12RB1	ORPHA:186
HP:0000951	Abnormality of the skin	23534	TNPO3	ORPHA:186
HP:0000951	Abnormality of the skin	6689	SPIB	ORPHA:186
HP:0000951	Abnormality of the skin	5450	POU2AF1	ORPHA:186
HP:0000951	Abnormality of the skin	9966	TNFSF15	ORPHA:186
HP:0000951	Abnormality of the skin	79258	MMEL1	ORPHA:186
HP:0000951	Abnormality of the skin	9971	NR1H4	ORPHA:69665
HP:0000951	Abnormality of the skin	10654	PMVK	ORPHA:735
HP:0000951	Abnormality of the skin	9414	TJP2	OMIM:607748
HP:0000951	Abnormality of the skin	9968	MED12	OMIM:301068
HP:0000951	Abnormality of the skin	147409	DSG4	OMIM:607903
HP:0000951	Abnormality of the skin	55898	UNC45A	OMIM:619377
HP:0000951	Abnormality of the skin	10848	PPP1R13L	OMIM:620519
HP:0000951	Abnormality of the skin	54532	USP53	OMIM:619658
HP:0000951	Abnormality of the skin	133396	IL31RA	OMIM:613955
HP:0000951	Abnormality of the skin	375056	MIA3	OMIM:619269
HP:0000951	Abnormality of the skin	113220	KIF12	OMIM:619662
HP:0000951	Abnormality of the skin	204219	CERS3	ORPHA:79394
HP:0000951	Abnormality of the skin	285848	PNPLA1	ORPHA:79394
HP:0000951	Abnormality of the skin	26276	VPS33B	OMIM:620010
HP:0000951	Abnormality of the skin	3988	LIPA	ORPHA:75234
HP:0000951	Abnormality of the skin	3949	LDLR	ORPHA:391665
HP:0000951	Abnormality of the skin	255738	PCSK9	ORPHA:391665
HP:0000951	Abnormality of the skin	26119	LDLRAP1	ORPHA:391665
HP:0000951	Abnormality of the skin	338	APOB	ORPHA:391665
HP:0000951	Abnormality of the skin	64240	ABCG5	ORPHA:391665
HP:0000951	Abnormality of the skin	64240	ABCG5	ORPHA:2882
HP:0000951	Abnormality of the skin	64241	ABCG8	ORPHA:391665
HP:0000951	Abnormality of the skin	64241	ABCG8	ORPHA:2882
HP:0000951	Abnormality of the skin	2538	G6PC1	OMIM:232200
HP:0000951	Abnormality of the skin	5468	PPARG	ORPHA:79083
HP:0000951	Abnormality of the skin	2542	SLC37A4	OMIM:232220
HP:0000951	Abnormality of the skin	2542	SLC37A4	OMIM:232240
HP:0000951	Abnormality of the skin	6609	SMPD1	OMIM:257200
HP:0000951	Abnormality of the skin	335	APOA1	ORPHA:425
HP:0000951	Abnormality of the skin	7518	XRCC4	ORPHA:99812
HP:0000951	Abnormality of the skin	144165	PRICKLE1	ORPHA:308
HP:0000951	Abnormality of the skin	950	SCARB2	ORPHA:308
HP:0000951	Abnormality of the skin	5111	PCNA	OMIM:615919
HP:0000951	Abnormality of the skin	5111	PCNA	ORPHA:438134
HP:0000951	Abnormality of the skin	100033413	SNORD116-1	OMIM:176270
HP:0000951	Abnormality of the skin	8924	HERC2	OMIM:176270
HP:0000951	Abnormality of the skin	23742	NPAP1	OMIM:176270
HP:0000951	Abnormality of the skin	338433	SNORD115-1	OMIM:176270
HP:0000951	Abnormality of the skin	7681	MKRN3	OMIM:176270
HP:0000951	Abnormality of the skin	145624	PWAR1	OMIM:176270
HP:0000951	Abnormality of the skin	3653	IPW	OMIM:176270
HP:0000951	Abnormality of the skin	791114	PWRN1	OMIM:176270
HP:0000951	Abnormality of the skin	6096	RORB	OMIM:618357
HP:0000951	Abnormality of the skin	1717	DHCR7	ORPHA:818
HP:0000951	Abnormality of the skin	1536	CYBB	ORPHA:379
HP:0000951	Abnormality of the skin	4688	NCF2	ORPHA:379
HP:0000951	Abnormality of the skin	1535	CYBA	ORPHA:379
HP:0000951	Abnormality of the skin	4689	NCF4	ORPHA:379
HP:0000951	Abnormality of the skin	653361	NCF1	ORPHA:379
HP:0000951	Abnormality of the skin	79415	CYBC1	ORPHA:379
HP:0000951	Abnormality of the skin	2215	FCGR3B	ORPHA:536
HP:0000951	Abnormality of the skin	3684	ITGAM	ORPHA:536
HP:0000951	Abnormality of the skin	221895	JAZF1	ORPHA:536
HP:0000951	Abnormality of the skin	7292	TNFSF4	ORPHA:536
HP:0000951	Abnormality of the skin	640	BLK	ORPHA:536
HP:0000951	Abnormality of the skin	55024	BANK1	ORPHA:536
HP:0000951	Abnormality of the skin	3500	IGHG1	ORPHA:536
HP:0000951	Abnormality of the skin	1380	CR2	ORPHA:536
HP:0000951	Abnormality of the skin	5133	PDCD1	ORPHA:536
HP:0000951	Abnormality of the skin	2113	ETS1	ORPHA:536
HP:0000951	Abnormality of the skin	2213	FCGR2B	ORPHA:536
HP:0000951	Abnormality of the skin	2213	FCGR2B	OMIM:152700
HP:0000951	Abnormality of the skin	10318	TNIP1	ORPHA:536
HP:0000951	Abnormality of the skin	7332	UBE2L3	ORPHA:536
HP:0000951	Abnormality of the skin	4204	MECP2	ORPHA:536
HP:0000951	Abnormality of the skin	721	C4B	ORPHA:536
HP:0000951	Abnormality of the skin	1773	DNASE1	ORPHA:536
HP:0000951	Abnormality of the skin	1773	DNASE1	OMIM:152700
HP:0000951	Abnormality of the skin	51284	TLR7	ORPHA:536
HP:0000951	Abnormality of the skin	54899	PXK	ORPHA:536
HP:0000951	Abnormality of the skin	7128	TNFAIP3	ORPHA:536
HP:0000951	Abnormality of the skin	8831	SYNGAP1	ORPHA:544254
HP:0000951	Abnormality of the skin	2067	ERCC1	ORPHA:1466
HP:0000951	Abnormality of the skin	10845	CLPX	OMIM:618015
HP:0000951	Abnormality of the skin	1656	DDX6	OMIM:618653
HP:0000951	Abnormality of the skin	375748	ERCC6L2	OMIM:615715
HP:0000951	Abnormality of the skin	7957	EPM2A	OMIM:254780
HP:0000951	Abnormality of the skin	5144	PDE4D	ORPHA:950
HP:0000951	Abnormality of the skin	1139	CHRNA7	ORPHA:199318
HP:0000951	Abnormality of the skin	23512	SUZ12	OMIM:618786
HP:0000951	Abnormality of the skin	3481	IGF2	OMIM:616489
HP:0000951	Abnormality of the skin	2261	FGFR3	OMIM:612247
HP:0000951	Abnormality of the skin	2261	FGFR3	OMIM:162900
HP:0000951	Abnormality of the skin	3257	HPS1	OMIM:203300
HP:0000951	Abnormality of the skin	2263	FGFR2	ORPHA:1555
HP:0000951	Abnormality of the skin	2263	FGFR2	ORPHA:207
HP:0000951	Abnormality of the skin	4982	TNFRSF11B	ORPHA:2801
HP:0000951	Abnormality of the skin	8792	TNFRSF11A	ORPHA:2801
HP:0000951	Abnormality of the skin	63915	BLOC1S5	OMIM:619172
HP:0000951	Abnormality of the skin	4920	ROR2	OMIM:268310
HP:0000951	Abnormality of the skin	4784	NFIX	OMIM:602535
HP:0000951	Abnormality of the skin	2146	EZH2	OMIM:277590
HP:0000951	Abnormality of the skin	22800	RRAS2	ORPHA:648
HP:0000951	Abnormality of the skin	6237	RRAS	ORPHA:648
HP:0000951	Abnormality of the skin	22808	MRAS	ORPHA:648
HP:0000951	Abnormality of the skin	5922	RASA2	ORPHA:648
HP:0000951	Abnormality of the skin	2077	ERF	ORPHA:207
HP:0000951	Abnormality of the skin	7703	PCGF2	OMIM:618371
HP:0000951	Abnormality of the skin	8726	EED	OMIM:617561
HP:0000951	Abnormality of the skin	6874	TAF4	OMIM:620450
HP:0000951	Abnormality of the skin	11285	B4GALT7	ORPHA:75496
HP:0000951	Abnormality of the skin	157680	VPS13B	ORPHA:193
HP:0000951	Abnormality of the skin	3425	IDUA	ORPHA:93473
HP:0000951	Abnormality of the skin	5627	PROS1	ORPHA:743
HP:0000951	Abnormality of the skin	5624	PROC	ORPHA:745
HP:0000951	Abnormality of the skin	2316	FLNA	OMIM:300244
HP:0000951	Abnormality of the skin	2175	FANCA	OMIM:227650
HP:0000951	Abnormality of the skin	2175	FANCA	ORPHA:84
HP:0000951	Abnormality of the skin	1654	DDX3X	ORPHA:457260
HP:0000951	Abnormality of the skin	488	ATP2A2	ORPHA:218
HP:0000951	Abnormality of the skin	55135	WRAP53	OMIM:613988
HP:0000951	Abnormality of the skin	2177	FANCD2	OMIM:227646
HP:0000951	Abnormality of the skin	2177	FANCD2	ORPHA:84
HP:0000951	Abnormality of the skin	10484	SEC23A	ORPHA:50814
HP:0000951	Abnormality of the skin	215	ABCD1	ORPHA:139399
HP:0000951	Abnormality of the skin	672	BRCA1	ORPHA:84
HP:0000951	Abnormality of the skin	10459	MAD2L2	ORPHA:84
HP:0000951	Abnormality of the skin	7516	XRCC2	ORPHA:84
HP:0000951	Abnormality of the skin	29089	UBE2T	ORPHA:84
HP:0000951	Abnormality of the skin	55120	FANCL	ORPHA:84
HP:0000951	Abnormality of the skin	2187	FANCB	ORPHA:84
HP:0000951	Abnormality of the skin	2176	FANCC	ORPHA:84
HP:0000951	Abnormality of the skin	2178	FANCE	ORPHA:84
HP:0000951	Abnormality of the skin	2188	FANCF	ORPHA:84
HP:0000951	Abnormality of the skin	2189	FANCG	ORPHA:84
HP:0000951	Abnormality of the skin	5888	RAD51	ORPHA:84
HP:0000951	Abnormality of the skin	5889	RAD51C	ORPHA:84
HP:0000951	Abnormality of the skin	55159	RFWD3	ORPHA:84
HP:0000951	Abnormality of the skin	83990	BRIP1	ORPHA:84
HP:0000951	Abnormality of the skin	57697	FANCM	ORPHA:84
HP:0000951	Abnormality of the skin	79728	PALB2	ORPHA:84
HP:0000951	Abnormality of the skin	55215	FANCI	ORPHA:84
HP:0000951	Abnormality of the skin	28234	SLCO1B3	OMIM:237450
HP:0000951	Abnormality of the skin	10599	SLCO1B1	OMIM:237450
HP:0000951	Abnormality of the skin	3691	ITGB4	ORPHA:79402
HP:0000951	Abnormality of the skin	54539	NDUFB11	ORPHA:2556
HP:0000951	Abnormality of the skin	1349	COX7B	ORPHA:2556
HP:0000951	Abnormality of the skin	3052	HCCS	ORPHA:2556
HP:0000951	Abnormality of the skin	3081	HGD	ORPHA:56
HP:0000951	Abnormality of the skin	9184	BUB3	ORPHA:1052
HP:0000951	Abnormality of the skin	699	BUB1	ORPHA:1052
HP:0000951	Abnormality of the skin	9702	CEP57	ORPHA:1052
HP:0000951	Abnormality of the skin	9319	TRIP13	ORPHA:1052
HP:0000951	Abnormality of the skin	701	BUB1B	ORPHA:1052
HP:0000951	Abnormality of the skin	5073	PARN	OMIM:616353
HP:0000951	Abnormality of the skin	85378	TUBGCP6	OMIM:251270
HP:0000951	Abnormality of the skin	7189	TRAF6	ORPHA:1810
HP:0000951	Abnormality of the skin	126695	KDF1	ORPHA:1810
HP:0000951	Abnormality of the skin	11284	PNKP	ORPHA:459033
HP:0000951	Abnormality of the skin	1729	DIAPH1	ORPHA:2573
HP:0000951	Abnormality of the skin	57674	RNF213	ORPHA:2573
HP:0000951	Abnormality of the skin	4010	LMX1B	ORPHA:495818
HP:0000951	Abnormality of the skin	6812	STXBP1	ORPHA:495818
HP:0000951	Abnormality of the skin	2658	GDF2	ORPHA:774
HP:0000951	Abnormality of the skin	2658	GDF2	OMIM:615506
HP:0000951	Abnormality of the skin	8813	DPM1	OMIM:608799
HP:0000951	Abnormality of the skin	84992	PIGY	ORPHA:247262
HP:0000951	Abnormality of the skin	84720	PIGO	ORPHA:247262
HP:0000951	Abnormality of the skin	93210	PGAP3	ORPHA:247262
HP:0000951	Abnormality of the skin	284098	PIGW	ORPHA:247262
HP:0000951	Abnormality of the skin	27315	PGAP2	ORPHA:247262
HP:0000951	Abnormality of the skin	55650	PIGV	ORPHA:247262
HP:0000951	Abnormality of the skin	4361	MRE11	OMIM:604391
HP:0000951	Abnormality of the skin	659	BMPR2	OMIM:178600
HP:0000951	Abnormality of the skin	1497	CTNS	OMIM:219800
HP:0000951	Abnormality of the skin	875	CBS	ORPHA:394
HP:0000951	Abnormality of the skin	875	CBS	OMIM:236200
HP:0000951	Abnormality of the skin	5122	PCSK1	ORPHA:71528
HP:0000951	Abnormality of the skin	5443	POMC	ORPHA:71526
HP:0000951	Abnormality of the skin	1638	DCT	OMIM:619165
HP:0000951	Abnormality of the skin	6492	SIM1	ORPHA:398079
HP:0000951	Abnormality of the skin	28960	DCPS	OMIM:616459
HP:0000951	Abnormality of the skin	1130	LYST	OMIM:214500
HP:0000951	Abnormality of the skin	1130	LYST	ORPHA:167
HP:0000951	Abnormality of the skin	7337	UBE3A	ORPHA:98794
HP:0000951	Abnormality of the skin	7337	UBE3A	ORPHA:98795
HP:0000951	Abnormality of the skin	7337	UBE3A	OMIM:105830
HP:0000951	Abnormality of the skin	7337	UBE3A	ORPHA:411511
HP:0000951	Abnormality of the skin	7337	UBE3A	ORPHA:411515
HP:0000951	Abnormality of the skin	4692	NDN	ORPHA:177904
HP:0000951	Abnormality of the skin	4692	NDN	ORPHA:177901
HP:0000951	Abnormality of the skin	4692	NDN	ORPHA:177910
HP:0000951	Abnormality of the skin	4692	NDN	ORPHA:98754
HP:0000951	Abnormality of the skin	54551	MAGEL2	ORPHA:177904
HP:0000951	Abnormality of the skin	54551	MAGEL2	ORPHA:177901
HP:0000951	Abnormality of the skin	54551	MAGEL2	ORPHA:398069
HP:0000951	Abnormality of the skin	54551	MAGEL2	ORPHA:177910
HP:0000951	Abnormality of the skin	54551	MAGEL2	ORPHA:98754
HP:0000951	Abnormality of the skin	114034	TOE1	OMIM:614969
HP:0000951	Abnormality of the skin	26258	BLOC1S6	OMIM:614171
HP:0000951	Abnormality of the skin	4644	MYO5A	ORPHA:33445
HP:0000951	Abnormality of the skin	4644	MYO5A	OMIM:214450
HP:0000951	Abnormality of the skin	84343	HPS3	OMIM:614072
HP:0000951	Abnormality of the skin	79803	HPS6	OMIM:614075
HP:0000951	Abnormality of the skin	55717	WDR11	OMIM:620237
HP:0000951	Abnormality of the skin	28956	LAMTOR2	OMIM:610798
HP:0000951	Abnormality of the skin	57724	EPG5	OMIM:242840
HP:0000951	Abnormality of the skin	57724	EPG5	ORPHA:1493
HP:0000951	Abnormality of the skin	7030	TFE3	OMIM:301066
HP:0000951	Abnormality of the skin	5873	RAB27A	OMIM:607624
HP:0000951	Abnormality of the skin	26503	SLC17A5	OMIM:269920
HP:0000951	Abnormality of the skin	10195	ALG3	ORPHA:79321
HP:0000951	Abnormality of the skin	3991	LIPE	OMIM:615980
HP:0000951	Abnormality of the skin	4254	KITLG	OMIM:619947
HP:0000951	Abnormality of the skin	57194	ATP10A	ORPHA:411515
HP:0000951	Abnormality of the skin	7306	TYRP1	ORPHA:79433
HP:0000951	Abnormality of the skin	344	APOC2	OMIM:207750
HP:0000951	Abnormality of the skin	3990	LIPC	OMIM:614025
HP:0000951	Abnormality of the skin	3990	LIPC	ORPHA:140905
HP:0000951	Abnormality of the skin	338328	GPIHBP1	OMIM:615947
HP:0000951	Abnormality of the skin	4126	MANBA	OMIM:248510
HP:0000951	Abnormality of the skin	2022	ENG	ORPHA:329971
HP:0000951	Abnormality of the skin	164656	TMPRSS6	ORPHA:209981
HP:0000951	Abnormality of the skin	4613	MYCN	ORPHA:635
HP:0000951	Abnormality of the skin	389421	LIN28B	ORPHA:635
HP:0000951	Abnormality of the skin	4004	LMO1	ORPHA:635
HP:0000951	Abnormality of the skin	57531	HACE1	ORPHA:635
HP:0000951	Abnormality of the skin	8929	PHOX2B	ORPHA:635
HP:0000951	Abnormality of the skin	162	AP1B1	OMIM:242150
HP:0000951	Abnormality of the skin	2137	EXTL3	OMIM:617425
HP:0000951	Abnormality of the skin	57609	DIP2B	OMIM:136630
HP:0000951	Abnormality of the skin	915	CD3D	ORPHA:169160
HP:0000951	Abnormality of the skin	916	CD3E	ORPHA:169160
HP:0000951	Abnormality of the skin	919	CD247	ORPHA:169160
HP:0000951	Abnormality of the skin	919	CD247	OMIM:610163
HP:0000951	Abnormality of the skin	83938	LRMDA	OMIM:615179
HP:0000951	Abnormality of the skin	89781	HPS4	OMIM:614073
HP:0000951	Abnormality of the skin	11234	HPS5	OMIM:614074
HP:0000951	Abnormality of the skin	84062	DTNBP1	OMIM:614076
HP:0000951	Abnormality of the skin	249	ALPL	OMIM:241500
HP:0000951	Abnormality of the skin	249	ALPL	OMIM:241510
HP:0000951	Abnormality of the skin	10262	SF3B4	OMIM:154400
HP:0000951	Abnormality of the skin	710	SERPING1	ORPHA:100050
HP:0000951	Abnormality of the skin	1369	CPN1	OMIM:212070
HP:0000951	Abnormality of the skin	80216	ALPK1	OMIM:614979
HP:0000951	Abnormality of the skin	81846	SBF2	ORPHA:99956
HP:0000951	Abnormality of the skin	3636	INPPL1	OMIM:258480
HP:0000951	Abnormality of the skin	10367	MICU1	OMIM:615673
HP:0000951	Abnormality of the skin	6651	SON	ORPHA:500150
HP:0000951	Abnormality of the skin	4256	MGP	ORPHA:85202
HP:0000951	Abnormality of the skin	1763	DNA2	OMIM:620819
HP:0000951	Abnormality of the skin	55699	IARS2	OMIM:616007
HP:0000951	Abnormality of the skin	79650	USB1	OMIM:604173
HP:0000951	Abnormality of the skin	10651	MTX2	OMIM:619127
HP:0000951	Abnormality of the skin	374393	FAM111B	OMIM:615704
HP:0000951	Abnormality of the skin	84946	LTV1	OMIM:620199
HP:0000951	Abnormality of the skin	716	C1S	OMIM:617174
HP:0000951	Abnormality of the skin	5566	PRKACA	OMIM:615830
HP:0000951	Abnormality of the skin	113189	CHST14	OMIM:601776
HP:0000951	Abnormality of the skin	4221	MEN1	OMIM:131100
HP:0000951	Abnormality of the skin	2260	FGFR1	OMIM:613001
HP:0000951	Abnormality of the skin	657	BMPR1A	ORPHA:79076
HP:0000951	Abnormality of the skin	1027	CDKN1B	ORPHA:276152
HP:0000951	Abnormality of the skin	217	ALDH2	OMIM:610251
HP:0000951	Abnormality of the skin	23141	ANKLE2	OMIM:616681
HP:0000951	Abnormality of the skin	112858	TP53RK	OMIM:617730
HP:0000951	Abnormality of the skin	23135	KDM6B	OMIM:618505
HP:0000951	Abnormality of the skin	8869	ST3GAL5	OMIM:609056
HP:0000951	Abnormality of the skin	79651	RHBDF2	OMIM:148500
HP:0000951	Abnormality of the skin	116519	APOA5	OMIM:145750
HP:0000951	Abnormality of the skin	4558	MT-TF	ORPHA:550
HP:0000951	Abnormality of the skin	4572	MT-TQ	ORPHA:550
HP:0000951	Abnormality of the skin	4512	MT-CO1	ORPHA:550
HP:0000951	Abnormality of the skin	4513	MT-CO2	ORPHA:550
HP:0000951	Abnormality of the skin	4514	MT-CO3	ORPHA:550
HP:0000951	Abnormality of the skin	4578	MT-TW	ORPHA:550
HP:0000951	Abnormality of the skin	4540	MT-ND5	ORPHA:550
HP:0000951	Abnormality of the skin	4541	MT-ND6	ORPHA:550
HP:0000951	Abnormality of the skin	4535	MT-ND1	ORPHA:550
HP:0000951	Abnormality of the skin	4538	MT-ND4	ORPHA:550
HP:0000951	Abnormality of the skin	4567	MT-TL1	ORPHA:550
HP:0000951	Abnormality of the skin	4574	MT-TS1	ORPHA:550
HP:0000951	Abnormality of the skin	4575	MT-TS2	ORPHA:550
HP:0000951	Abnormality of the skin	4564	MT-TH	ORPHA:550
HP:0000951	Abnormality of the skin	54	ACP5	OMIM:607944
HP:0000951	Abnormality of the skin	54	ACP5	ORPHA:1855
HP:0000951	Abnormality of the skin	4791	NFKB2	ORPHA:293978
HP:0000951	Abnormality of the skin	326	AIRE	OMIM:240300
HP:0000951	Abnormality of the skin	847	CAT	ORPHA:926
HP:0000951	Abnormality of the skin	987	LRBA	OMIM:614700
HP:0000951	Abnormality of the skin	55806	HR	ORPHA:701
HP:0000951	Abnormality of the skin	23126	POGZ	ORPHA:468678
HP:0000951	Abnormality of the skin	25778	DSTYK	ORPHA:101003
HP:0000951	Abnormality of the skin	25778	DSTYK	OMIM:270750
HP:0000951	Abnormality of the skin	27022	FOXD3	OMIM:607836
HP:0000951	Abnormality of the skin	28755	TRAC	OMIM:615387
HP:0000951	Abnormality of the skin	26191	PTPN22	ORPHA:3437
HP:0000951	Abnormality of the skin	56259	CTNNBL1	OMIM:619846
HP:0000951	Abnormality of the skin	868	CBLB	OMIM:620430
HP:0000951	Abnormality of the skin	23065	EMC1	ORPHA:480898
HP:0000951	Abnormality of the skin	2615	LRRC32	OMIM:619074
HP:0000951	Abnormality of the skin	3735	KARS1	ORPHA:3240
HP:0000951	Abnormality of the skin	84433	CARD11	OMIM:617638
HP:0000951	Abnormality of the skin	10847	SRCAP	OMIM:136140
HP:0000951	Abnormality of the skin	23102	TBC1D2B	ORPHA:397973
HP:0000951	Abnormality of the skin	22880	MORC2	ORPHA:466768
HP:0000951	Abnormality of the skin	3716	JAK1	OMIM:618999
HP:0000951	Abnormality of the skin	64087	MCCC2	OMIM:210210
HP:0000951	Abnormality of the skin	9939	RBM8A	OMIM:274000
HP:0000951	Abnormality of the skin	7086	TKT	ORPHA:488618
HP:0000951	Abnormality of the skin	80267	EDEM3	OMIM:619493
HP:0000951	Abnormality of the skin	1028	CDKN1C	OMIM:130650
HP:0000951	Abnormality of the skin	3784	KCNQ1	OMIM:130650
HP:0000951	Abnormality of the skin	10984	KCNQ1OT1	OMIM:130650
HP:0000951	Abnormality of the skin	64359	NXN	ORPHA:1507
HP:0000951	Abnormality of the skin	7474	WNT5A	OMIM:180700
HP:0000951	Abnormality of the skin	1855	DVL1	OMIM:180700
HP:0000951	Abnormality of the skin	283120	H19	ORPHA:231140
HP:0000951	Abnormality of the skin	26040	SETBP1	OMIM:616078
HP:0000951	Abnormality of the skin	4591	TRIM37	OMIM:253250
HP:0000951	Abnormality of the skin	171546	SPTSSA	OMIM:620416
HP:0000951	Abnormality of the skin	57167	SALL4	ORPHA:233
HP:0000951	Abnormality of the skin	9935	MAFB	ORPHA:233
HP:0000951	Abnormality of the skin	1123	CHN1	ORPHA:233
HP:0000951	Abnormality of the skin	6663	SOX10	OMIM:613266
HP:0000951	Abnormality of the skin	6663	SOX10	OMIM:609136
HP:0000951	Abnormality of the skin	6663	SOX10	ORPHA:895
HP:0000951	Abnormality of the skin	6663	SOX10	ORPHA:163746
HP:0000951	Abnormality of the skin	6663	SOX10	OMIM:611584
HP:0000951	Abnormality of the skin	1908	EDN3	OMIM:613265
HP:0000951	Abnormality of the skin	1910	EDNRB	OMIM:277580
HP:0000951	Abnormality of the skin	1910	EDNRB	ORPHA:895
HP:0000951	Abnormality of the skin	695	BTK	ORPHA:47
HP:0000951	Abnormality of the skin	5077	PAX3	ORPHA:894
HP:0000951	Abnormality of the skin	5077	PAX3	OMIM:148820
HP:0000951	Abnormality of the skin	2581	GALC	ORPHA:206436
HP:0000951	Abnormality of the skin	5660	PSAP	ORPHA:206436
HP:0000951	Abnormality of the skin	1312	COMT	ORPHA:567
HP:0000951	Abnormality of the skin	221037	JMJD1C	ORPHA:567
HP:0000951	Abnormality of the skin	2812	GP1BB	ORPHA:567
HP:0000951	Abnormality of the skin	6239	RREB1	ORPHA:567
HP:0000951	Abnormality of the skin	6899	TBX1	ORPHA:567
HP:0000951	Abnormality of the skin	7290	HIRA	ORPHA:567
HP:0000951	Abnormality of the skin	9632	SEC24C	ORPHA:567
HP:0000951	Abnormality of the skin	7353	UFD1	ORPHA:567
HP:0000951	Abnormality of the skin	421	ARVCF	ORPHA:567
HP:0000951	Abnormality of the skin	2475	MTOR	ORPHA:457485
HP:0000951	Abnormality of the skin	220296	HEPACAM	ORPHA:210548
HP:0000951	Abnormality of the skin	9508	ADAMTS3	ORPHA:2136
HP:0000951	Abnormality of the skin	147372	CCBE1	ORPHA:2136
HP:0000951	Abnormality of the skin	147372	CCBE1	OMIM:235510
HP:0000951	Abnormality of the skin	79633	FAT4	ORPHA:2136
HP:0000951	Abnormality of the skin	3313	HSPA9	OMIM:616854
HP:0000951	Abnormality of the skin	2165	F13B	ORPHA:331
HP:0000951	Abnormality of the skin	2162	F13A1	ORPHA:331
HP:0000951	Abnormality of the skin	5880	RAC2	ORPHA:183707
HP:0000951	Abnormality of the skin	5880	RAC2	OMIM:608203
HP:0000951	Abnormality of the skin	3689	ITGB2	OMIM:116920
HP:0000951	Abnormality of the skin	4803	NGF	ORPHA:64752
HP:0000951	Abnormality of the skin	2157	F8	ORPHA:169802
HP:0000951	Abnormality of the skin	10092	ARPC5	OMIM:620565
HP:0000951	Abnormality of the skin	29940	DSE	OMIM:615539
HP:0000951	Abnormality of the skin	5054	SERPINE1	ORPHA:465
HP:0000951	Abnormality of the skin	633	BGN	OMIM:300989
HP:0000951	Abnormality of the skin	4921	DDR2	OMIM:618175
HP:0000951	Abnormality of the skin	3075	CFH	ORPHA:244242
HP:0000951	Abnormality of the skin	3426	CFI	ORPHA:244242
HP:0000951	Abnormality of the skin	4179	CD46	ORPHA:244242
HP:0000951	Abnormality of the skin	101101692	HELLPAR	ORPHA:244242
HP:0000951	Abnormality of the skin	9731	CEP104	OMIM:619988
HP:0000951	Abnormality of the skin	10558	SPTLC1	ORPHA:36386
HP:0000951	Abnormality of the skin	25923	ATL3	ORPHA:36386
HP:0000951	Abnormality of the skin	9517	SPTLC2	ORPHA:36386
HP:0000951	Abnormality of the skin	51062	ATL1	ORPHA:36386
HP:0000951	Abnormality of the skin	55605	KIF21A	ORPHA:994
HP:0000951	Abnormality of the skin	4927	NUP88	ORPHA:994
HP:0000951	Abnormality of the skin	7846	TUBA1A	ORPHA:994
HP:0000951	Abnormality of the skin	4654	MYOD1	ORPHA:994
HP:0000951	Abnormality of the skin	4593	MUSK	ORPHA:994
HP:0000951	Abnormality of the skin	5913	RAPSN	ORPHA:994
HP:0000951	Abnormality of the skin	6572	SLC18A3	ORPHA:994
HP:0000951	Abnormality of the skin	285489	DOK7	ORPHA:994
HP:0000951	Abnormality of the skin	5352	PLOD2	ORPHA:2771
HP:0000951	Abnormality of the skin	5352	PLOD2	OMIM:609220
HP:0000951	Abnormality of the skin	57538	ALPK3	OMIM:618052
HP:0000951	Abnormality of the skin	55640	FLVCR2	OMIM:225790
HP:0000951	Abnormality of the skin	10082	GPC6	ORPHA:93329
HP:0000951	Abnormality of the skin	26227	PHGDH	OMIM:256520
HP:0000951	Abnormality of the skin	1947	EFNB1	OMIM:304110
HP:0000951	Abnormality of the skin	57211	ADGRG6	OMIM:616503
HP:0000951	Abnormality of the skin	9563	H6PD	OMIM:604931
HP:0000951	Abnormality of the skin	331	XIAP	OMIM:300635
HP:0000951	Abnormality of the skin	54361	WNT4	ORPHA:247768
HP:0000951	Abnormality of the skin	54361	WNT4	OMIM:158330
HP:0000951	Abnormality of the skin	3973	LHCGR	ORPHA:3000
HP:0000951	Abnormality of the skin	9060	PAPSS2	OMIM:612847
HP:0000951	Abnormality of the skin	2099	ESR1	ORPHA:785
HP:0000951	Abnormality of the skin	2099	ESR1	OMIM:615363
HP:0000951	Abnormality of the skin	79798	ARMC5	ORPHA:189427
HP:0000951	Abnormality of the skin	23028	KDM1A	ORPHA:189427
HP:0000951	Abnormality of the skin	4212	MEIS2	ORPHA:261190
HP:0000951	Abnormality of the skin	367	AR	ORPHA:99429
HP:0000951	Abnormality of the skin	23474	ETHE1	ORPHA:51188
HP:0000951	Abnormality of the skin	23474	ETHE1	OMIM:602473
HP:0000951	Abnormality of the skin	8518	ELP1	OMIM:223900
HP:0000951	Abnormality of the skin	8518	ELP1	ORPHA:1764
HP:0000951	Abnormality of the skin	729238	SFTPA2	ORPHA:2032
HP:0000951	Abnormality of the skin	653509	SFTPA1	ORPHA:2032
HP:0000951	Abnormality of the skin	727897	MUC5B	ORPHA:2032
HP:0000951	Abnormality of the skin	10144	FAM13A	ORPHA:2032
HP:0000951	Abnormality of the skin	23250	ATP11A	ORPHA:2032
HP:0000951	Abnormality of the skin	51117	COQ4	OMIM:616276
HP:0000951	Abnormality of the skin	2395	FXN	ORPHA:95
HP:0000951	Abnormality of the skin	80204	FBXO11	OMIM:618089
HP:0000951	Abnormality of the skin	84133	ZNRF3	ORPHA:1501
HP:0000951	Abnormality of the skin	4015	LOX	OMIM:617168
HP:0000951	Abnormality of the skin	1742	DLG4	OMIM:618793
HP:0000951	Abnormality of the skin	4763	NF1	OMIM:601321
HP:0000951	Abnormality of the skin	4763	NF1	OMIM:162200
HP:0000951	Abnormality of the skin	4763	NF1	OMIM:162210
HP:0000951	Abnormality of the skin	4763	NF1	OMIM:193520
HP:0000951	Abnormality of the skin	6711	SPTBN1	OMIM:619475
HP:0000951	Abnormality of the skin	161742	SPRED1	OMIM:611431
HP:0000951	Abnormality of the skin	161742	SPRED1	ORPHA:137605
HP:0000951	Abnormality of the skin	50506	DUOX2	ORPHA:226316
HP:0000951	Abnormality of the skin	1798	DPAGT1	ORPHA:86309
HP:0000951	Abnormality of the skin	2200	FBN1	OMIM:614185
HP:0000951	Abnormality of the skin	2200	FBN1	OMIM:608328
HP:0000951	Abnormality of the skin	2200	FBN1	ORPHA:2833
HP:0000951	Abnormality of the skin	2200	FBN1	ORPHA:3449
HP:0000951	Abnormality of the skin	2200	FBN1	OMIM:102370
HP:0000951	Abnormality of the skin	118429	ANTXR2	ORPHA:2176
HP:0000951	Abnormality of the skin	118429	ANTXR2	OMIM:228600
HP:0000951	Abnormality of the skin	285590	SH3PXD2B	ORPHA:137834
HP:0000951	Abnormality of the skin	9719	ADAMTSL2	OMIM:231050
HP:0000951	Abnormality of the skin	411	ARSB	OMIM:253200
HP:0000951	Abnormality of the skin	79092	CARD14	ORPHA:2897
HP:0000951	Abnormality of the skin	4089	SMAD4	OMIM:139210
HP:0000951	Abnormality of the skin	4089	SMAD4	ORPHA:2588
HP:0000951	Abnormality of the skin	65082	VPS33A	OMIM:617303
HP:0000951	Abnormality of the skin	65082	VPS33A	ORPHA:505248
HP:0000951	Abnormality of the skin	2720	GLB1	ORPHA:79255
HP:0000951	Abnormality of the skin	1893	ECM1	ORPHA:530
HP:0000951	Abnormality of the skin	1893	ECM1	OMIM:247100
HP:0000951	Abnormality of the skin	79158	GNPTAB	ORPHA:576
HP:0000951	Abnormality of the skin	79158	GNPTAB	ORPHA:423461
HP:0000951	Abnormality of the skin	79158	GNPTAB	OMIM:252600
HP:0000951	Abnormality of the skin	170691	ADAMTS17	ORPHA:3449
HP:0000951	Abnormality of the skin	81794	ADAMTS10	ORPHA:3449
HP:0000951	Abnormality of the skin	81794	ADAMTS10	OMIM:277600
HP:0000951	Abnormality of the skin	5297	PI4KA	ORPHA:436252
HP:0000951	Abnormality of the skin	57217	TTC7A	ORPHA:436252
HP:0000951	Abnormality of the skin	51574	LARP7	ORPHA:319671
HP:0000951	Abnormality of the skin	83550	GPR101	ORPHA:963
HP:0000951	Abnormality of the skin	4313	MMP2	OMIM:259600
HP:0000951	Abnormality of the skin	7389	UROD	ORPHA:95159
HP:0000951	Abnormality of the skin	203068	TUBB	ORPHA:2505
HP:0000951	Abnormality of the skin	10982	MAPRE2	ORPHA:2505
HP:0000951	Abnormality of the skin	5498	PPOX	ORPHA:79473
HP:0000951	Abnormality of the skin	4054	LTBP3	OMIM:617809
HP:0000951	Abnormality of the skin	336	APOA2	OMIM:143890
HP:0000951	Abnormality of the skin	2053	EPHX2	OMIM:143890
HP:0000951	Abnormality of the skin	10842	PPP1R17	OMIM:143890
HP:0000951	Abnormality of the skin	7274	TTPA	OMIM:277460
HP:0000951	Abnormality of the skin	9853	RUSC2	OMIM:617773
HP:0000951	Abnormality of the skin	5063	PAK3	OMIM:300558
HP:0000951	Abnormality of the skin	6228	RPS23	OMIM:617412
HP:0000951	Abnormality of the skin	55628	ZNF407	OMIM:619557
HP:0000951	Abnormality of the skin	11133	KPTN	OMIM:615637
HP:0000951	Abnormality of the skin	253738	EBF3	ORPHA:96148
HP:0000951	Abnormality of the skin	93986	FOXP2	ORPHA:251061
HP:0000951	Abnormality of the skin	116931	MED12L	OMIM:618872
HP:0000951	Abnormality of the skin	83479	DDX59	OMIM:174300
HP:0000951	Abnormality of the skin	7025	NR2F1	OMIM:615722
HP:0000951	Abnormality of the skin	51322	WAC	ORPHA:466950
HP:0000951	Abnormality of the skin	1822	ATN1	OMIM:618494
HP:0000951	Abnormality of the skin	23036	ZNF292	OMIM:619188
HP:0000951	Abnormality of the skin	3188	HNRNPH2	OMIM:300986
HP:0000951	Abnormality of the skin	2703	GJA8	OMIM:612474
HP:0000951	Abnormality of the skin	2702	GJA5	OMIM:612474
HP:0000951	Abnormality of the skin	7994	KAT6A	OMIM:616268
HP:0000951	Abnormality of the skin	4683	NBN	ORPHA:647
HP:0000951	Abnormality of the skin	10058	ABCB6	ORPHA:241
HP:0000951	Abnormality of the skin	2521	FUS	ORPHA:99967
HP:0000951	Abnormality of the skin	1649	DDIT3	ORPHA:99967
HP:0000951	Abnormality of the skin	90	ACVR1	ORPHA:337
HP:0000951	Abnormality of the skin	567	B2M	OMIM:241600
HP:0000951	Abnormality of the skin	59335	PRDM12	OMIM:616488
HP:0000951	Abnormality of the skin	83706	FERMT3	OMIM:612840
HP:0000951	Abnormality of the skin	3570	IL6R	OMIM:618944
HP:0000951	Abnormality of the skin	10525	HYOU1	OMIM:233600
HP:0000951	Abnormality of the skin	4780	NFE2L2	OMIM:617744
HP:0000951	Abnormality of the skin	4790	NFKB1	OMIM:616576
HP:0000951	Abnormality of the skin	1991	ELANE	ORPHA:2686
HP:0000951	Abnormality of the skin	1991	ELANE	ORPHA:486
HP:0000951	Abnormality of the skin	57591	MRTFA	OMIM:618847
HP:0000951	Abnormality of the skin	2303	FOXC2	ORPHA:33001
HP:0000951	Abnormality of the skin	6728	SRP19	ORPHA:486
HP:0000951	Abnormality of the skin	2672	GFI1	ORPHA:486
HP:0000951	Abnormality of the skin	81570	CLPB	ORPHA:486
HP:0000951	Abnormality of the skin	4153	MBL2	OMIM:614372
HP:0000951	Abnormality of the skin	6778	STAT6	OMIM:620532
HP:0000951	Abnormality of the skin	8883	NAE1	OMIM:620210
HP:0000951	Abnormality of the skin	2131	EXT1	ORPHA:502
HP:0000951	Abnormality of the skin	5308	PITX2	ORPHA:782
HP:0000951	Abnormality of the skin	2296	FOXC1	ORPHA:782
HP:0000951	Abnormality of the skin	6535	SLC6A8	ORPHA:52503
HP:0000951	Abnormality of the skin	26281	FGF20	OMIM:615721
HP:0000951	Abnormality of the skin	79087	ALG12	ORPHA:79324
HP:0000951	Abnormality of the skin	2879	GPX4	OMIM:250220
HP:0000951	Abnormality of the skin	65125	WNK1	OMIM:201300
HP:0000951	Abnormality of the skin	54463	RETREG1	OMIM:201300
HP:0000951	Abnormality of the skin	547	KIF1A	OMIM:201300
HP:0000951	Abnormality of the skin	1053	CEBPE	OMIM:260570
HP:0000951	Abnormality of the skin	3764	KCNJ8	ORPHA:1517
HP:0000951	Abnormality of the skin	10559	SLC35A1	ORPHA:238459
HP:0000951	Abnormality of the skin	10559	SLC35A1	OMIM:603585
HP:0000951	Abnormality of the skin	2048	EPHB2	OMIM:618462
HP:0000951	Abnormality of the skin	9213	XPR1	ORPHA:1980
HP:0000951	Abnormality of the skin	57462	MYORG	ORPHA:1980
HP:0000951	Abnormality of the skin	6575	SLC20A2	ORPHA:1980
HP:0000951	Abnormality of the skin	58494	JAM2	ORPHA:1980
HP:0000951	Abnormality of the skin	83932	SPRTN	OMIM:616200
HP:0000951	Abnormality of the skin	79991	STN1	OMIM:617341
HP:0000951	Abnormality of the skin	6117	RPA1	OMIM:619767
HP:0000951	Abnormality of the skin	4193	MDM2	OMIM:618681
HP:0000951	Abnormality of the skin	9675	TTI1	OMIM:620445
HP:0000951	Abnormality of the skin	79184	BRCC3	ORPHA:280679
HP:0000951	Abnormality of the skin	8884	SLC5A6	OMIM:619903
HP:0000951	Abnormality of the skin	80326	WNT10A	OMIM:224750
HP:0000951	Abnormality of the skin	80326	WNT10A	ORPHA:50944
HP:0000951	Abnormality of the skin	10519	CIB1	OMIM:618267
HP:0000951	Abnormality of the skin	1643	DDB2	OMIM:278740
HP:0000951	Abnormality of the skin	6023	RMRP	OMIM:250250
HP:0000951	Abnormality of the skin	5727	PTCH1	OMIM:605462
HP:0000951	Abnormality of the skin	5727	PTCH1	ORPHA:377
HP:0000951	Abnormality of the skin	5727	PTCH1	ORPHA:77301
HP:0000951	Abnormality of the skin	5727	PTCH1	OMIM:109400
HP:0000951	Abnormality of the skin	5921	RASA1	OMIM:605462
HP:0000951	Abnormality of the skin	8643	PTCH2	OMIM:605462
HP:0000951	Abnormality of the skin	8643	PTCH2	ORPHA:377
HP:0000951	Abnormality of the skin	4893	NRAS	OMIM:163200
HP:0000951	Abnormality of the skin	7373	COL14A1	ORPHA:79501
HP:0000951	Abnormality of the skin	79719	AAGAB	ORPHA:79501
HP:0000951	Abnormality of the skin	1308	COL17A1	ORPHA:79406
HP:0000951	Abnormality of the skin	4312	MMP1	ORPHA:79408
HP:0000951	Abnormality of the skin	11322	TMC6	OMIM:226400
HP:0000951	Abnormality of the skin	64218	SEMA4A	ORPHA:440437
HP:0000951	Abnormality of the skin	472	ATM	ORPHA:440437
HP:0000951	Abnormality of the skin	5426	POLE	ORPHA:440437
HP:0000951	Abnormality of the skin	675	BRCA2	ORPHA:440437
HP:0000951	Abnormality of the skin	6224	RPS20	ORPHA:440437
HP:0000951	Abnormality of the skin	4595	MUTYH	ORPHA:440437
HP:0000951	Abnormality of the skin	5424	POLD1	ORPHA:440437
HP:0000951	Abnormality of the skin	11200	CHEK2	ORPHA:440437
HP:0000951	Abnormality of the skin	2304	FOXE1	OMIM:616534
HP:0000951	Abnormality of the skin	5429	POLH	OMIM:278750
HP:0000951	Abnormality of the skin	5429	POLH	ORPHA:90342
HP:0000951	Abnormality of the skin	2068	ERCC2	ORPHA:220295
HP:0000951	Abnormality of the skin	2068	ERCC2	OMIM:601675
HP:0000951	Abnormality of the skin	2073	ERCC5	ORPHA:220295
HP:0000951	Abnormality of the skin	2071	ERCC3	ORPHA:220295
HP:0000951	Abnormality of the skin	2071	ERCC3	OMIM:610651
HP:0000951	Abnormality of the skin	7298	TYMS	OMIM:620040
HP:0000951	Abnormality of the skin	7508	XPC	OMIM:278720
HP:0000951	Abnormality of the skin	6223	RPS19	OMIM:105650
HP:0000951	Abnormality of the skin	7299	TYR	ORPHA:79431
HP:0000951	Abnormality of the skin	7299	TYR	ORPHA:79434
HP:0000951	Abnormality of the skin	9817	KEAP1	ORPHA:276399
HP:0000951	Abnormality of the skin	23405	DICER1	ORPHA:276399
HP:0000951	Abnormality of the skin	4157	MC1R	ORPHA:79432
HP:0000951	Abnormality of the skin	4948	OCA2	ORPHA:79432
HP:0000951	Abnormality of the skin	9020	MAP3K14	OMIM:620449
HP:0000951	Abnormality of the skin	1029	CDKN2A	OMIM:606719
HP:0000951	Abnormality of the skin	55851	PSENEN	OMIM:613736
HP:0000951	Abnormality of the skin	8795	TNFRSF10B	OMIM:275355
HP:0000951	Abnormality of the skin	3621	ING1	OMIM:275355
HP:0000951	Abnormality of the skin	1736	DKC1	OMIM:305000
HP:0000951	Abnormality of the skin	7486	WRN	ORPHA:902
HP:0000951	Abnormality of the skin	3574	IL7	ORPHA:302
HP:0000951	Abnormality of the skin	147138	TMC8	ORPHA:302
HP:0000951	Abnormality of the skin	3909	LAMA3	ORPHA:79404
HP:0000951	Abnormality of the skin	3918	LAMC2	ORPHA:79404
HP:0000951	Abnormality of the skin	55612	FERMT1	ORPHA:2908
HP:0000951	Abnormality of the skin	84464	SLX4	OMIM:613951
HP:0000951	Abnormality of the skin	833	CARS1	ORPHA:33364
HP:0000951	Abnormality of the skin	7737	RNF113A	ORPHA:33364
HP:0000951	Abnormality of the skin	136647	MPLKIP	ORPHA:33364
HP:0000951	Abnormality of the skin	6897	TARS1	ORPHA:33364
HP:0000951	Abnormality of the skin	16	AARS1	ORPHA:33364
HP:0000951	Abnormality of the skin	2961	GTF2E2	ORPHA:33364
HP:0000951	Abnormality of the skin	81704	DOCK8	OMIM:243700
HP:0000951	Abnormality of the skin	81704	DOCK8	ORPHA:217390
HP:0000951	Abnormality of the skin	23328	SASH1	OMIM:618373
HP:0000951	Abnormality of the skin	22861	NLRP1	OMIM:615225
HP:0000951	Abnormality of the skin	2224	FDPS	ORPHA:79152
HP:0000951	Abnormality of the skin	4597	MVD	ORPHA:79152
HP:0000951	Abnormality of the skin	63910	SLC17A9	ORPHA:79152
HP:0000951	Abnormality of the skin	4598	MVK	ORPHA:79152
HP:0000951	Abnormality of the skin	23476	BRD4	ORPHA:443167
HP:0000951	Abnormality of the skin	256646	NUTM1	ORPHA:443167
HP:0000951	Abnormality of the skin	256297	PTF1A	OMIM:609069
HP:0000951	Abnormality of the skin	221496	LEMD2	OMIM:619322
HP:0000951	Abnormality of the skin	6514	SLC2A2	OMIM:227810
HP:0000951	Abnormality of the skin	51305	KCNK9	OMIM:612292
HP:0000951	Abnormality of the skin	1594	CYP27B1	OMIM:264700
HP:0000951	Abnormality of the skin	7156	TOP3A	OMIM:618097
HP:0000951	Abnormality of the skin	3480	IGF1R	OMIM:270450
HP:0000951	Abnormality of the skin	60	ACTB	OMIM:604919
HP:0000951	Abnormality of the skin	60529	ALX4	OMIM:613451
HP:0000951	Abnormality of the skin	25885	POLR1A	OMIM:616462
HP:0000951	Abnormality of the skin	998	CDC42	ORPHA:487796
HP:0000951	Abnormality of the skin	998	CDC42	OMIM:616737
HP:0000951	Abnormality of the skin	3008	H1-4	OMIM:617537
HP:0000951	Abnormality of the skin	1146	CHRNG	ORPHA:2990
HP:0000951	Abnormality of the skin	1854	DUT	OMIM:620044
HP:0000951	Abnormality of the skin	1009	CDH11	OMIM:211380
HP:0000951	Abnormality of the skin	55869	HDAC8	OMIM:300882
HP:0000951	Abnormality of the skin	10943	MSL3	OMIM:301032
HP:0000951	Abnormality of the skin	8913	CACNA1G	ORPHA:458803
HP:0000951	Abnormality of the skin	3107	HLA-C	OMIM:177900
HP:0000951	Abnormality of the skin	2625	GATA3	ORPHA:2237
HP:0000951	Abnormality of the skin	64919	BCL11B	OMIM:617237
HP:0000951	Abnormality of the skin	359948	IRF2BP2	OMIM:617765
HP:0000951	Abnormality of the skin	6307	MSMO1	OMIM:616834
HP:0000951	Abnormality of the skin	84181	CHD6	ORPHA:2108
HP:0000951	Abnormality of the skin	80036	TRPM3	OMIM:620224
HP:0000951	Abnormality of the skin	145258	GSC	OMIM:602471
HP:0000951	Abnormality of the skin	23414	ZFPM2	ORPHA:3303
HP:0000951	Abnormality of the skin	23414	ZFPM2	OMIM:187500
HP:0000951	Abnormality of the skin	3791	KDR	ORPHA:3303
HP:0000951	Abnormality of the skin	2657	GDF1	ORPHA:3303
HP:0000951	Abnormality of the skin	140628	GATA5	ORPHA:3303
HP:0000951	Abnormality of the skin	27031	NPHP3	OMIM:208540
HP:0000951	Abnormality of the skin	3759	KCNJ2	OMIM:170390
HP:0000951	Abnormality of the skin	4281	MID1	ORPHA:2745
HP:0000951	Abnormality of the skin	78987	CRELD1	OMIM:620771
HP:0000951	Abnormality of the skin	58499	ZNF462	OMIM:618619
HP:0000951	Abnormality of the skin	55784	MCTP2	ORPHA:1596
HP:0000951	Abnormality of the skin	387	RHOA	OMIM:618727
HP:0000951	Abnormality of the skin	3763	KCNJ6	ORPHA:435628
HP:0000951	Abnormality of the skin	3763	KCNJ6	OMIM:614098
HP:0000951	Abnormality of the skin	10273	STUB1	ORPHA:412057
HP:0000951	Abnormality of the skin	84823	LMNB2	ORPHA:79087
HP:0000951	Abnormality of the skin	25839	COG4	OMIM:618150
HP:0000951	Abnormality of the skin	23404	EXOSC2	OMIM:617763
HP:0000951	Abnormality of the skin	51135	IRAK4	ORPHA:70592
HP:0000951	Abnormality of the skin	9419	CRIPT	OMIM:615789
HP:0000951	Abnormality of the skin	778	CACNA1F	OMIM:300600
HP:0000951	Abnormality of the skin	1026	CDKN1A	ORPHA:652
HP:0000951	Abnormality of the skin	1031	CDKN2C	ORPHA:652
HP:0000951	Abnormality of the skin	55165	CEP55	OMIM:236500
HP:0000951	Abnormality of the skin	6913	TBX15	ORPHA:93333
HP:0000951	Abnormality of the skin	55593	OTUD5	OMIM:301056
HP:0000951	Abnormality of the skin	79848	CSPP1	ORPHA:397715
HP:0000951	Abnormality of the skin	9786	KIAA0586	ORPHA:397715
HP:0000951	Abnormality of the skin	55697	VAC14	ORPHA:3472
HP:0000951	Abnormality of the skin	4716	NDUFB10	OMIM:619003
HP:0000951	Abnormality of the skin	10801	SEPTIN9	ORPHA:2901
HP:0000951	Abnormality of the skin	51021	MRPS16	OMIM:610498
HP:0000951	Abnormality of the skin	124997	WDR81	OMIM:617967
HP:0000951	Abnormality of the skin	170689	ADAMTS15	OMIM:620545
HP:0000951	Abnormality of the skin	80816	ASXL3	OMIM:615485
HP:0000951	Abnormality of the skin	1806	DPYD	ORPHA:1675
HP:0000951	Abnormality of the skin	23446	SLC44A1	OMIM:618868
HP:0000951	Abnormality of the skin	5626	PROP1	ORPHA:226307
HP:0000951	Abnormality of the skin	89884	LHX4	ORPHA:226307
HP:0000951	Abnormality of the skin	8022	LHX3	ORPHA:226307
HP:0000951	Abnormality of the skin	2584	GALK1	OMIM:230200
HP:0000951	Abnormality of the skin	23600	AMACR	OMIM:214950
HP:0000951	Abnormality of the skin	123264	SLC51B	OMIM:619481
HP:0000951	Abnormality of the skin	5631	PRPS1	ORPHA:423479
HP:0000951	Abnormality of the skin	200894	ARL13B	OMIM:612291
HP:0000951	Abnormality of the skin	55904	KMT2E	OMIM:618512
HP:0000951	Abnormality of the skin	182	JAG1	OMIM:118450
HP:0000951	Abnormality of the skin	25973	PARS2	OMIM:618437
HP:0000951	Abnormality of the skin	6554	SLC10A1	OMIM:619256
HP:0000951	Abnormality of the skin	130589	GALM	OMIM:618881
HP:0000951	Abnormality of the skin	8565	YARS1	OMIM:619418
HP:0000951	Abnormality of the skin	405753	DUOXA2	ORPHA:95716
HP:0000951	Abnormality of the skin	7038	TG	ORPHA:95716
HP:0000951	Abnormality of the skin	7173	TPO	ORPHA:95716
HP:0000951	Abnormality of the skin	389434	IYD	ORPHA:95716
HP:0000951	Abnormality of the skin	7080	NKX2-1	ORPHA:95713
HP:0000951	Abnormality of the skin	84317	CCDC115	OMIM:616828
HP:0000951	Abnormality of the skin	4864	NPC1	OMIM:257220
HP:0000951	Abnormality of the skin	6567	SLC16A2	ORPHA:59
HP:0000951	Abnormality of the skin	2688	GH1	OMIM:262400
HP:0000951	Abnormality of the skin	146059	CDAN1	OMIM:224120
HP:0000951	Abnormality of the skin	284654	RSPO1	ORPHA:85112
HP:0000951	Abnormality of the skin	92345	NAF1	OMIM:620365
HP:0000951	Abnormality of the skin	2271	FH	OMIM:150800
HP:0000951	Abnormality of the skin	201163	FLCN	OMIM:135150
HP:0000951	Abnormality of the skin	5573	PRKAR1A	OMIM:160980
HP:0000951	Abnormality of the skin	55275	VPS53	OMIM:615851
HP:0000951	Abnormality of the skin	10093	ARPC4	OMIM:620141
HP:0000951	Abnormality of the skin	197131	UBR1	OMIM:243800
HP:0000951	Abnormality of the skin	145264	SERPINA12	ORPHA:86923
HP:0000951	Abnormality of the skin	91949	COG7	OMIM:608779
HP:0000951	Abnormality of the skin	91949	COG7	ORPHA:79333
HP:0000951	Abnormality of the skin	9373	PLAA	OMIM:617527
HP:0000951	Abnormality of the skin	81857	MED25	ORPHA:464738
HP:0000951	Abnormality of the skin	81857	MED25	OMIM:616449
HP:0000951	Abnormality of the skin	118924	FRA10AC1	OMIM:620113
HP:0000951	Abnormality of the skin	5354	PLP1	ORPHA:280229
HP:0000951	Abnormality of the skin	8621	CDK13	OMIM:617360
HP:0000951	Abnormality of the skin	714	C1QC	OMIM:620322
HP:0000951	Abnormality of the skin	84342	COG8	OMIM:611182
HP:0000951	Abnormality of the skin	84342	COG8	ORPHA:95428
HP:0000951	Abnormality of the skin	5568	PRKACG	OMIM:616176
HP:0000951	Abnormality of the skin	6418	SET	OMIM:618106
HP:0000951	Abnormality of the skin	5080	PAX6	ORPHA:2253
HP:0000951	Abnormality of the skin	29926	GMPPA	ORPHA:869
HP:0000951	Abnormality of the skin	60684	TRAPPC11	ORPHA:869
HP:0000951	Abnormality of the skin	6770	STAR	ORPHA:361
HP:0000951	Abnormality of the skin	23530	NNT	ORPHA:361
HP:0000951	Abnormality of the skin	3662	IRF4	ORPHA:3452
HP:0000951	Abnormality of the skin	23556	PIGN	ORPHA:280633
HP:0000951	Abnormality of the skin	7543	ZFX	OMIM:301118
HP:0000951	Abnormality of the skin	79083	MLPH	ORPHA:79478
HP:0000951	Abnormality of the skin	4841	NONO	ORPHA:466791
HP:0000951	Abnormality of the skin	27238	GPKOW	ORPHA:2570
HP:0000951	Abnormality of the skin	90416	CCDC32	OMIM:619123
HP:0000951	Abnormality of the skin	4038	LRP4	ORPHA:3258
HP:0000951	Abnormality of the skin	5925	RB1	ORPHA:1587
HP:0000951	Abnormality of the skin	2138	EYA1	ORPHA:2792
HP:0000951	Abnormality of the skin	5075	PAX1	ORPHA:2792
HP:0000951	Abnormality of the skin	3209	HOXA13	ORPHA:2438
HP:0000951	Abnormality of the skin	1723	DHODH	ORPHA:246
HP:0000951	Abnormality of the skin	51099	ABHD5	ORPHA:98907
HP:0000951	Abnormality of the skin	51099	ABHD5	OMIM:275630
HP:0000951	Abnormality of the skin	8239	USP9X	ORPHA:480880
HP:0000951	Abnormality of the skin	8367	H4C5	OMIM:619950
HP:0000951	Abnormality of the skin	8260	NAA10	OMIM:300855
HP:0000951	Abnormality of the skin	1593	CYP27A1	ORPHA:909
HP:0000951	Abnormality of the skin	9791	PTDSS1	ORPHA:2658
HP:0000951	Abnormality of the skin	22930	RAB3GAP1	ORPHA:1387
HP:0000951	Abnormality of the skin	25782	RAB3GAP2	ORPHA:1387
HP:0000951	Abnormality of the skin	6804	STX1A	ORPHA:904
HP:0000951	Abnormality of the skin	7461	CLIP2	ORPHA:904
HP:0000951	Abnormality of the skin	84277	DNAJC30	ORPHA:904
HP:0000951	Abnormality of the skin	8468	FKBP6	ORPHA:904
HP:0000951	Abnormality of the skin	5982	RFC2	ORPHA:904
HP:0000951	Abnormality of the skin	2969	GTF2I	ORPHA:904
HP:0000951	Abnormality of the skin	3984	LIMK1	ORPHA:904
HP:0000951	Abnormality of the skin	9569	GTF2IRD1	ORPHA:904
HP:0000951	Abnormality of the skin	155382	VPS37D	ORPHA:904
HP:0000951	Abnormality of the skin	155368	METTL27	ORPHA:904
HP:0000951	Abnormality of the skin	114049	BUD23	ORPHA:904
HP:0000951	Abnormality of the skin	7458	EIF4H	ORPHA:904
HP:0000951	Abnormality of the skin	84163	GTF2IRD2	ORPHA:904
HP:0000951	Abnormality of the skin	26608	TBL2	ORPHA:904
HP:0000951	Abnormality of the skin	135886	TMEM270	ORPHA:904
HP:0000951	Abnormality of the skin	9031	BAZ1B	ORPHA:904
HP:0000951	Abnormality of the skin	92344	GORAB	ORPHA:2078
HP:0000951	Abnormality of the skin	1062	CENPE	ORPHA:808
HP:0000951	Abnormality of the skin	5932	RBBP8	ORPHA:808
HP:0000951	Abnormality of the skin	79902	NUP85	ORPHA:808
HP:0000951	Abnormality of the skin	84126	ATRIP	ORPHA:808
HP:0000951	Abnormality of the skin	10293	TRAIP	ORPHA:808
HP:0000951	Abnormality of the skin	22995	CEP152	ORPHA:808
HP:0000951	Abnormality of the skin	10733	PLK4	ORPHA:808
HP:0000951	Abnormality of the skin	84168	ANTXR1	ORPHA:2067
HP:0000951	Abnormality of the skin	2690	GHR	ORPHA:633
HP:0000951	Abnormality of the skin	6611	SMS	ORPHA:3063
HP:0000951	Abnormality of the skin	388552	BLOC1S3	OMIM:614077
HP:0000951	Abnormality of the skin	8882	ZPR1	OMIM:619321
HP:0000951	Abnormality of the skin	283652	SLC24A5	OMIM:113750
HP:0000951	Abnormality of the skin	8546	AP3B1	OMIM:608233
HP:0000951	Abnormality of the skin	4882	NPR2	OMIM:602875
HP:0000951	Abnormality of the skin	378884	NHLRC1	ORPHA:501
HP:0000951	Abnormality of the skin	257	ALX3	OMIM:136760
HP:0000951	Abnormality of the skin	3141	HLCS	ORPHA:79242
HP:0000951	Abnormality of the skin	5373	PMM2	ORPHA:79318
HP:0000951	Abnormality of the skin	5373	PMM2	OMIM:212065
HP:0000951	Abnormality of the skin	5980	REV3L	ORPHA:570
HP:0000951	Abnormality of the skin	8242	KDM5C	ORPHA:85279
HP:0000951	Abnormality of the skin	727	C5	OMIM:609536
HP:0000951	Abnormality of the skin	7291	TWIST1	ORPHA:794
HP:0000951	Abnormality of the skin	5792	PTPRF	OMIM:616001
HP:0000951	Abnormality of the skin	10908	PNPLA6	ORPHA:2377
HP:0000951	Abnormality of the skin	9894	TELO2	ORPHA:488642
HP:0000951	Abnormality of the skin	283989	TSEN54	ORPHA:2524
HP:0000951	Abnormality of the skin	116461	TSEN15	ORPHA:2524
HP:0000951	Abnormality of the skin	79042	TSEN34	ORPHA:2524
HP:0000951	Abnormality of the skin	51091	SEPSECS	ORPHA:2524
HP:0000951	Abnormality of the skin	7140	TNNT3	ORPHA:1147
HP:0000951	Abnormality of the skin	259232	NALCN	ORPHA:1147
HP:0000951	Abnormality of the skin	7136	TNNI2	ORPHA:1147
HP:0000951	Abnormality of the skin	23511	NUP188	OMIM:618804
HP:0000951	Abnormality of the skin	658	BMPR1B	ORPHA:2639
HP:0000951	Abnormality of the skin	23522	KAT6B	ORPHA:3047
HP:0000951	Abnormality of the skin	1801	DPH1	ORPHA:459061
HP:0000951	Abnormality of the skin	2254	FGF9	ORPHA:3237
HP:0000951	Abnormality of the skin	3977	LIFR	OMIM:601559
HP:0000951	Abnormality of the skin	8074	FGF23	OMIM:617993
HP:0000951	Abnormality of the skin	5702	PSMC3	OMIM:619354
HP:0000951	Abnormality of the skin	2483	FRG1	OMIM:158900
HP:0000951	Abnormality of the skin	29072	SETD2	OMIM:620157
HP:0000951	Abnormality of the skin	29072	SETD2	OMIM:620155
HP:0000951	Abnormality of the skin	4536	MT-ND2	ORPHA:104
HP:0000951	Abnormality of the skin	4720	NDUFS2	ORPHA:104
HP:0000951	Abnormality of the skin	4508	MT-ATP6	ORPHA:104
HP:0000951	Abnormality of the skin	4539	MT-ND4L	ORPHA:104
HP:0000951	Abnormality of the skin	197	AHSG	ORPHA:2850
HP:0000951	Abnormality of the skin	3694	ITGB6	ORPHA:2850
HP:0000951	Abnormality of the skin	1120	CHKB	OMIM:602541
HP:0000951	Abnormality of the skin	9342	SNAP29	ORPHA:66631
HP:0000951	Abnormality of the skin	9342	SNAP29	OMIM:609528
HP:0000951	Abnormality of the skin	128486	FITM2	OMIM:618635
HP:0000951	Abnormality of the skin	29968	PSAT1	ORPHA:284417
HP:0000951	Abnormality of the skin	29968	PSAT1	OMIM:616038
HP:0000951	Abnormality of the skin	3560	IL2RB	OMIM:618495
HP:0000951	Abnormality of the skin	10283	CWC27	OMIM:250410
HP:0000951	Abnormality of the skin	10283	CWC27	ORPHA:166035
HP:0000951	Abnormality of the skin	285362	SUMF1	OMIM:272200
HP:0000951	Abnormality of the skin	285362	SUMF1	ORPHA:585
HP:0000951	Abnormality of the skin	55670	PEX26	ORPHA:772
HP:0000951	Abnormality of the skin	5824	PEX19	ORPHA:772
HP:0000951	Abnormality of the skin	5828	PEX2	ORPHA:772
HP:0000951	Abnormality of the skin	8504	PEX3	ORPHA:772
HP:0000951	Abnormality of the skin	9409	PEX16	ORPHA:772
HP:0000951	Abnormality of the skin	5830	PEX5	ORPHA:772
HP:0000951	Abnormality of the skin	5193	PEX12	ORPHA:772
HP:0000951	Abnormality of the skin	5194	PEX13	ORPHA:772
HP:0000951	Abnormality of the skin	5195	PEX14	ORPHA:772
HP:0000951	Abnormality of the skin	5192	PEX10	ORPHA:772
HP:0000951	Abnormality of the skin	415	ARSL	OMIM:302950
HP:0000951	Abnormality of the skin	2273	FHL1	ORPHA:98863
HP:0000951	Abnormality of the skin	2010	EMD	ORPHA:98863
HP:0000951	Abnormality of the skin	10371	SEMA3A	ORPHA:478
HP:0000951	Abnormality of the skin	81848	SPRY4	ORPHA:478
HP:0000951	Abnormality of the skin	23767	FLRT3	ORPHA:478
HP:0000951	Abnormality of the skin	79625	NDNF	ORPHA:478
HP:0000951	Abnormality of the skin	2253	FGF8	ORPHA:478
HP:0000951	Abnormality of the skin	389549	FEZF1	ORPHA:478
HP:0000951	Abnormality of the skin	1630	DCC	ORPHA:478
HP:0000951	Abnormality of the skin	3730	ANOS1	ORPHA:478
HP:0000951	Abnormality of the skin	54756	IL17RD	ORPHA:478
HP:0000951	Abnormality of the skin	285025	CCDC141	ORPHA:478
HP:0000951	Abnormality of the skin	60675	PROK2	ORPHA:478
HP:0000951	Abnormality of the skin	1848	DUSP6	ORPHA:478
HP:0000951	Abnormality of the skin	6870	TACR3	ORPHA:478
HP:0000951	Abnormality of the skin	9394	HS6ST1	ORPHA:478
HP:0000951	Abnormality of the skin	8822	FGF17	ORPHA:478
HP:0000951	Abnormality of the skin	79188	TMEM43	ORPHA:98853
HP:0000951	Abnormality of the skin	23345	SYNE1	ORPHA:98853
HP:0000951	Abnormality of the skin	23224	SYNE2	ORPHA:98853
HP:0000951	Abnormality of the skin	1718	DHCR24	ORPHA:35107
HP:0000951	Abnormality of the skin	3516	RBPJ	ORPHA:974
HP:0000951	Abnormality of the skin	4851	NOTCH1	ORPHA:974
HP:0000951	Abnormality of the skin	57514	ARHGAP31	ORPHA:974
HP:0000951	Abnormality of the skin	57572	DOCK6	ORPHA:974
HP:0000951	Abnormality of the skin	285203	EOGT	ORPHA:974
HP:0000951	Abnormality of the skin	54567	DLL4	ORPHA:974
HP:0000951	Abnormality of the skin	3858	KRT10	ORPHA:312
HP:0000951	Abnormality of the skin	3858	KRT10	OMIM:607602
HP:0000951	Abnormality of the skin	3858	KRT10	OMIM:620150
HP:0000951	Abnormality of the skin	3858	KRT10	OMIM:620707
HP:0000951	Abnormality of the skin	3858	KRT10	OMIM:146600
HP:0000951	Abnormality of the skin	3119	HLA-DQB1	ORPHA:703
HP:0000951	Abnormality of the skin	362	AQP5	ORPHA:2337
HP:0000951	Abnormality of the skin	3655	ITGA6	ORPHA:79403
HP:0000951	Abnormality of the skin	3655	ITGA6	OMIM:619817
HP:0000951	Abnormality of the skin	3728	JUP	OMIM:601214
HP:0000951	Abnormality of the skin	1825	DSC3	OMIM:613102
HP:0000951	Abnormality of the skin	3849	KRT2	ORPHA:455
HP:0000951	Abnormality of the skin	3106	HLA-B	ORPHA:36426
HP:0000951	Abnormality of the skin	3106	HLA-B	ORPHA:117
HP:0000951	Abnormality of the skin	10320	IKZF1	ORPHA:36426
HP:0000951	Abnormality of the skin	340665	CYP26C1	ORPHA:398189
HP:0000951	Abnormality of the skin	4210	MEFV	ORPHA:3243
HP:0000951	Abnormality of the skin	4210	MEFV	ORPHA:117
HP:0000951	Abnormality of the skin	5777	PTPN6	ORPHA:3243
HP:0000951	Abnormality of the skin	23086	EXPH5	OMIM:615028
HP:0000951	Abnormality of the skin	667	DST	OMIM:615425
HP:0000951	Abnormality of the skin	5317	PKP1	OMIM:604536
HP:0000951	Abnormality of the skin	5317	PKP1	ORPHA:158668
HP:0000951	Abnormality of the skin	54800	KLHL24	OMIM:617294
HP:0000951	Abnormality of the skin	5590	PRKCZ	ORPHA:1606
HP:0000951	Abnormality of the skin	2563	GABRD	ORPHA:1606
HP:0000951	Abnormality of the skin	8510	MMP23B	ORPHA:1606
HP:0000951	Abnormality of the skin	7798	LUZP1	ORPHA:1606
HP:0000951	Abnormality of the skin	6497	SKI	ORPHA:1606
HP:0000951	Abnormality of the skin	10630	PDPN	ORPHA:1606
HP:0000951	Abnormality of the skin	3339	HSPG2	ORPHA:1606
HP:0000951	Abnormality of the skin	10277	UBE4B	ORPHA:1606
HP:0000951	Abnormality of the skin	8514	KCNAB2	ORPHA:1606
HP:0000951	Abnormality of the skin	473	RERE	ORPHA:1606
HP:0000951	Abnormality of the skin	63976	PRDM16	ORPHA:1606
HP:0000951	Abnormality of the skin	54897	CASZ1	ORPHA:1606
HP:0000951	Abnormality of the skin	3675	ITGA3	OMIM:614748
HP:0000951	Abnormality of the skin	55739	NAXD	OMIM:618321
HP:0000951	Abnormality of the skin	340024	SLC6A19	ORPHA:2116
HP:0000951	Abnormality of the skin	57393	CLTRN	ORPHA:2116
HP:0000951	Abnormality of the skin	50943	FOXP3	ORPHA:37042
HP:0000951	Abnormality of the skin	3857	KRT9	ORPHA:2199
HP:0000951	Abnormality of the skin	9333	TGM5	ORPHA:263534
HP:0000951	Abnormality of the skin	1475	CSTA	ORPHA:263534
HP:0000951	Abnormality of the skin	1832	DSP	OMIM:605676
HP:0000951	Abnormality of the skin	1832	DSP	OMIM:609638
HP:0000951	Abnormality of the skin	80169	CTC1	ORPHA:1775
HP:0000951	Abnormality of the skin	55651	NHP2	ORPHA:1775
HP:0000951	Abnormality of the skin	51750	RTEL1	ORPHA:1775
HP:0000951	Abnormality of the skin	4869	NPM1	ORPHA:1775
HP:0000951	Abnormality of the skin	7012	TERC	ORPHA:1775
HP:0000951	Abnormality of the skin	55505	NOP10	ORPHA:1775
HP:0000951	Abnormality of the skin	149233	IL23R	ORPHA:117
HP:0000951	Abnormality of the skin	3586	IL10	ORPHA:117
HP:0000951	Abnormality of the skin	1230	CCR1	ORPHA:117
HP:0000951	Abnormality of the skin	3592	IL12A	ORPHA:117
HP:0000951	Abnormality of the skin	101928376	IL12A-AS1	ORPHA:117
HP:0000951	Abnormality of the skin	7099	TLR4	ORPHA:117
HP:0000951	Abnormality of the skin	3459	IFNGR1	ORPHA:117
HP:0000951	Abnormality of the skin	720	C4A	ORPHA:117
HP:0000951	Abnormality of the skin	337867	UBAC2	ORPHA:117
HP:0000951	Abnormality of the skin	51752	ERAP1	ORPHA:117
HP:0000951	Abnormality of the skin	8302	KLRC4	ORPHA:117
HP:0000951	Abnormality of the skin	10804	GJB6	ORPHA:477
HP:0000951	Abnormality of the skin	2706	GJB2	ORPHA:477
HP:0000951	Abnormality of the skin	1499	CTNNB1	ORPHA:873
HP:0000951	Abnormality of the skin	324	APC	ORPHA:873
HP:0000951	Abnormality of the skin	1493	CTLA4	ORPHA:3162
HP:0000951	Abnormality of the skin	1493	CTLA4	ORPHA:2584
HP:0000951	Abnormality of the skin	940	CD28	ORPHA:3162
HP:0000951	Abnormality of the skin	940	CD28	ORPHA:2584
HP:0000951	Abnormality of the skin	7133	TNFRSF1B	ORPHA:3162
HP:0000951	Abnormality of the skin	7133	TNFRSF1B	ORPHA:2584
HP:0000951	Abnormality of the skin	355	FAS	ORPHA:3261
HP:0000951	Abnormality of the skin	356	FASLG	ORPHA:3261
HP:0000951	Abnormality of the skin	843	CASP10	ORPHA:3261
HP:0000951	Abnormality of the skin	4854	NOTCH3	ORPHA:2591
HP:0000951	Abnormality of the skin	5159	PDGFRB	ORPHA:2591
HP:0000951	Abnormality of the skin	9630	GNA14	ORPHA:1063
HP:0000951	Abnormality of the skin	4913	NTHL1	ORPHA:454840
HP:0000951	Abnormality of the skin	2072	ERCC4	OMIM:278760
HP:0000951	Abnormality of the skin	9401	RECQL4	ORPHA:221016
HP:0000951	Abnormality of the skin	8314	BAP1	ORPHA:2495
HP:0000951	Abnormality of the skin	4771	NF2	ORPHA:2495
HP:0000951	Abnormality of the skin	4771	NF2	ORPHA:637
HP:0000951	Abnormality of the skin	6598	SMARCB1	ORPHA:2495
HP:0000951	Abnormality of the skin	5155	PDGFB	ORPHA:2495
HP:0000951	Abnormality of the skin	5155	PDGFB	ORPHA:31112
HP:0000951	Abnormality of the skin	84231	TRAF7	ORPHA:2495
HP:0000951	Abnormality of the skin	6608	SMO	ORPHA:2495
HP:0000951	Abnormality of the skin	207	AKT1	ORPHA:2495
HP:0000951	Abnormality of the skin	207	AKT1	ORPHA:201
HP:0000951	Abnormality of the skin	5290	PIK3CA	ORPHA:2495
HP:0000951	Abnormality of the skin	5290	PIK3CA	ORPHA:144
HP:0000951	Abnormality of the skin	5290	PIK3CA	ORPHA:201
HP:0000951	Abnormality of the skin	7015	TERT	ORPHA:2495
HP:0000951	Abnormality of the skin	51684	SUFU	ORPHA:2495
HP:0000951	Abnormality of the skin	6605	SMARCE1	ORPHA:2495
HP:0000951	Abnormality of the skin	6578	SLCO2A1	ORPHA:2796
HP:0000951	Abnormality of the skin	4292	MLH1	ORPHA:144
HP:0000951	Abnormality of the skin	5395	PMS2	ORPHA:144
HP:0000951	Abnormality of the skin	7048	TGFBR2	ORPHA:144
HP:0000951	Abnormality of the skin	3845	KRAS	ORPHA:144
HP:0000951	Abnormality of the skin	2956	MSH6	ORPHA:144
HP:0000951	Abnormality of the skin	5378	PMS1	ORPHA:144
HP:0000951	Abnormality of the skin	4436	MSH2	ORPHA:144
HP:0000951	Abnormality of the skin	641	BLM	ORPHA:125
HP:0000951	Abnormality of the skin	10483	SEC23B	ORPHA:201
HP:0000951	Abnormality of the skin	5728	PTEN	ORPHA:201
HP:0000951	Abnormality of the skin	6390	SDHB	ORPHA:201
HP:0000951	Abnormality of the skin	6392	SDHD	ORPHA:201
HP:0000951	Abnormality of the skin	6391	SDHC	ORPHA:201
HP:0000951	Abnormality of the skin	205717	USF3	ORPHA:201
HP:0000951	Abnormality of the skin	100144748	KLLN	ORPHA:201
HP:0000951	Abnormality of the skin	8943	AP3D1	ORPHA:54
HP:0000951	Abnormality of the skin	4935	GPR143	ORPHA:54
HP:0000951	Abnormality of the skin	404672	GTF2H5	OMIM:616395
HP:0000951	Abnormality of the skin	1540	CYLD	OMIM:132700
HP:0000951	Abnormality of the skin	51360	MBTPS2	ORPHA:659
HP:0000951	Abnormality of the skin	162514	TRPV3	ORPHA:659
HP:0000951	Abnormality of the skin	64065	PERP	ORPHA:659
HP:0000951	Abnormality of the skin	2697	GJA1	ORPHA:317
HP:0000951	Abnormality of the skin	2707	GJB3	ORPHA:317
HP:0000951	Abnormality of the skin	2531	KDSR	ORPHA:317
HP:0000951	Abnormality of the skin	127534	GJB4	ORPHA:317
HP:0000951	Abnormality of the skin	2324	FLT4	ORPHA:79452
HP:0000951	Abnormality of the skin	9780	PIEZO1	ORPHA:79452
HP:0000951	Abnormality of the skin	285	ANGPT2	ORPHA:79452
HP:0000951	Abnormality of the skin	57165	GJC2	ORPHA:79452
HP:0000951	Abnormality of the skin	4000	LMNA	ORPHA:79474
HP:0000951	Abnormality of the skin	1277	COL1A1	ORPHA:31112
HP:0000951	Abnormality of the skin	7390	UROS	ORPHA:79277
HP:0000951	Abnormality of the skin	2623	GATA1	ORPHA:79277
HP:0000951	Abnormality of the skin	4437	MSH3	ORPHA:480536
HP:0000951	Abnormality of the skin	4952	OCRL	ORPHA:534
HP:0000951	Abnormality of the skin	6591	SNAI2	ORPHA:2884
HP:0000951	Abnormality of the skin	3815	KIT	ORPHA:2884
HP:0000951	Abnormality of the skin	51151	SLC45A2	ORPHA:79435
HP:0000951	Abnormality of the skin	1075	CTSC	ORPHA:678
HP:0000951	Abnormality of the skin	64682	ANAPC1	ORPHA:221008
HP:0000951	Abnormality of the skin	7037	TFRC	OMIM:616740
HP:0000951	Abnormality of the skin	3932	LCK	OMIM:615758
HP:0000951	Abnormality of the skin	959	CD40LG	OMIM:308230
HP:0000951	Abnormality of the skin	51311	TLR8	OMIM:301078
HP:0000951	Abnormality of the skin	11151	CORO1A	OMIM:615401
HP:0000951	Abnormality of the skin	1794	DOCK2	OMIM:616433
HP:0000951	Abnormality of the skin	51004	COQ6	ORPHA:93921
HP:0000951	Abnormality of the skin	8216	LZTR1	ORPHA:93921
HP:0000951	Abnormality of the skin	1777	DNASE2	OMIM:619858
HP:0000951	Abnormality of the skin	713	C1QB	OMIM:620321
HP:0000951	Abnormality of the skin	3458	IFNG	OMIM:613254
HP:0000951	Abnormality of the skin	7249	TSC2	OMIM:613254
HP:0000951	Abnormality of the skin	7248	TSC1	OMIM:191100
HP:0000951	Abnormality of the skin	3872	KRT17	ORPHA:841
HP:0000951	Abnormality of the skin	5307	PITX1	OMIM:119800
HP:0000951	Abnormality of the skin	727857	BHLHA9	ORPHA:3329
HP:0000951	Abnormality of the skin	9928	KIF14	OMIM:616258
HP:0000951	Abnormality of the skin	92579	G6PC3	OMIM:612541
HP:0000951	Abnormality of the skin	22806	IKZF3	OMIM:619437
HP:0000951	Abnormality of the skin	92949	ADAMTSL1	ORPHA:521445
HP:0000951	Abnormality of the skin	22884	WDR37	OMIM:618652
HP:0000951	Abnormality of the skin	7750	ZMYM2	OMIM:619522
HP:0000951	Abnormality of the skin	54820	NDE1	OMIM:605013
HP:0000951	Abnormality of the skin	286053	NSMCE2	OMIM:617253
HP:0000951	Abnormality of the skin	344167	FOXI3	OMIM:620444
HP:0000951	Abnormality of the skin	2248	FGF3	ORPHA:90024
HP:0000951	Abnormality of the skin	2248	FGF3	OMIM:610706
HP:0000951	Abnormality of the skin	22827	PUF60	ORPHA:508488
HP:0000951	Abnormality of the skin	54345	SOX18	OMIM:137940
HP:0000951	Abnormality of the skin	126792	B3GALT6	ORPHA:536467
HP:0000951	Abnormality of the skin	126792	B3GALT6	OMIM:615349
HP:0000951	Abnormality of the skin	54914	FOCAD	OMIM:619991
HP:0000951	Abnormality of the skin	29957	SLC25A24	OMIM:612289
HP:0000951	Abnormality of the skin	2006	ELN	ORPHA:90348
HP:0000951	Abnormality of the skin	10516	FBLN5	ORPHA:90348
HP:0000951	Abnormality of the skin	5832	ALDH18A1	ORPHA:90348
HP:0000951	Abnormality of the skin	5832	ALDH18A1	OMIM:616603
HP:0000951	Abnormality of the skin	4088	SMAD3	OMIM:613795
HP:0000951	Abnormality of the skin	10269	ZMPSTE24	ORPHA:1662
HP:0000951	Abnormality of the skin	5831	PYCR1	OMIM:612940
HP:0000951	Abnormality of the skin	5831	PYCR1	OMIM:614438
HP:0000951	Abnormality of the skin	4087	SMAD2	OMIM:619656
HP:0000951	Abnormality of the skin	3376	IARS1	ORPHA:541423
HP:0000951	Abnormality of the skin	2202	EFEMP1	OMIM:620780
HP:0000951	Abnormality of the skin	1105	CHD1	OMIM:617682
HP:0000951	Abnormality of the skin	1105	CHD1	ORPHA:529965
HP:0000951	Abnormality of the skin	9509	ADAMTS2	OMIM:225410
HP:0000951	Abnormality of the skin	1278	COL1A2	OMIM:619120
HP:0000951	Abnormality of the skin	30008	EFEMP2	OMIM:614437
HP:0000951	Abnormality of the skin	5500	PPP1CB	OMIM:617506
HP:0000951	Abnormality of the skin	27145	FILIP1	OMIM:620775
HP:0000951	Abnormality of the skin	1289	COL5A1	OMIM:619329
HP:0000951	Abnormality of the skin	129563	DIS3L2	ORPHA:2849
HP:0000951	Abnormality of the skin	55906	ZC4H2	OMIM:314580
HP:0000951	Abnormality of the skin	6662	SOX9	ORPHA:140
HP:0000951	Abnormality of the skin	65267	WNK3	OMIM:309610
HP:0000951	Abnormality of the skin	55681	SCYL2	ORPHA:1143
HP:0000951	Abnormality of the skin	84570	COL25A1	ORPHA:1143
HP:0000951	Abnormality of the skin	57222	ERGIC1	ORPHA:1143
HP:0000951	Abnormality of the skin	471	ATIC	OMIM:608688
HP:0000951	Abnormality of the skin	2887	GRB10	ORPHA:96182
HP:0000951	Abnormality of the skin	26834	RNU4-2	OMIM:620851
HP:0000951	Abnormality of the skin	56984	PSMG2	OMIM:619183
HP:0000951	Abnormality of the skin	2752	GLUL	OMIM:610015
HP:0000951	Abnormality of the skin	3115	HLA-DPB1	ORPHA:133
HP:0000951	Abnormality of the skin	5551	PRF1	ORPHA:540
HP:0000951	Abnormality of the skin	8676	STX11	ORPHA:540
HP:0000951	Abnormality of the skin	201294	UNC13D	ORPHA:540
HP:0000951	Abnormality of the skin	6813	STXBP2	ORPHA:540
HP:0000951	Abnormality of the skin	5083	PAX9	OMIM:604625
HP:0000951	Abnormality of the skin	171023	ASXL1	ORPHA:98850
HP:0000951	Abnormality of the skin	54790	TET2	ORPHA:98850
HP:0000951	Abnormality of the skin	867	CBL	ORPHA:98850
HP:0000951	Abnormality of the skin	861	RUNX1	ORPHA:98850
HP:0000951	Abnormality of the skin	6427	SRSF2	ORPHA:98850
HP:0000951	Abnormality of the skin	210	ALAD	ORPHA:100924
HP:0000951	Abnormality of the skin	1294	COL7A1	ORPHA:158676
HP:0000951	Abnormality of the skin	112802	KRT71	OMIM:615896
HP:0000951	Abnormality of the skin	9652	SKIC3	ORPHA:84064
HP:0000951	Abnormality of the skin	6499	SKIC2	ORPHA:84064
HP:0000951	Abnormality of the skin	5333	PLCD1	OMIM:151600
HP:0000951	Abnormality of the skin	1371	CPOX	ORPHA:79273
HP:0000951	Abnormality of the skin	6792	CDKL5	ORPHA:3451
HP:0000951	Abnormality of the skin	221692	PHACTR1	ORPHA:3451
HP:0000951	Abnormality of the skin	6487	ST3GAL3	ORPHA:3451
HP:0000951	Abnormality of the skin	10695	CNPY3	ORPHA:3451
HP:0000951	Abnormality of the skin	23236	PLCB1	ORPHA:3451
HP:0000951	Abnormality of the skin	150094	SIK1	ORPHA:3451
HP:0000951	Abnormality of the skin	6709	SPTAN1	ORPHA:3451
HP:0000951	Abnormality of the skin	60558	GUF1	ORPHA:3451
HP:0000951	Abnormality of the skin	170302	ARX	ORPHA:3451
HP:0000951	Abnormality of the skin	6326	SCN2A	ORPHA:3451
HP:0000951	Abnormality of the skin	11152	WDR45	ORPHA:3451
HP:0000951	Abnormality of the skin	2904	GRIN2B	ORPHA:3451
HP:0000951	Abnormality of the skin	5277	PIGA	ORPHA:3451
HP:0000951	Abnormality of the skin	4915	NTRK2	ORPHA:3451
HP:0000951	Abnormality of the skin	3145	HMBS	ORPHA:79276
HP:0000951	Abnormality of the skin	56244	BTNL2	ORPHA:797
HP:0000951	Abnormality of the skin	79053	ALG8	ORPHA:79325
HP:0000951	Abnormality of the skin	9663	LPIN2	OMIM:609628
HP:0000951	Abnormality of the skin	9663	LPIN2	ORPHA:77297
HP:0000951	Abnormality of the skin	6772	STAT1	ORPHA:391487
HP:0000951	Abnormality of the skin	29110	TBK1	OMIM:620880
HP:0000951	Abnormality of the skin	37	ACADVL	ORPHA:26793
HP:0000951	Abnormality of the skin	7317	UBA1	OMIM:301054
HP:0000951	Abnormality of the skin	57104	PNPLA2	ORPHA:565612
HP:0000951	Abnormality of the skin	57152	SLURP1	ORPHA:87503
HP:0000951	Abnormality of the skin	2683	B4GALT1	ORPHA:79332
HP:0000951	Abnormality of the skin	11235	PDCD10	ORPHA:221061
HP:0000951	Abnormality of the skin	83605	CCM2	ORPHA:221061
HP:0000951	Abnormality of the skin	2050	EPHB4	ORPHA:137667
HP:0000951	Abnormality of the skin	175	AGA	ORPHA:93
HP:0000951	Abnormality of the skin	4758	NEU1	ORPHA:812
HP:0000951	Abnormality of the skin	4297	KMT2A	OMIM:605130
HP:0000951	Abnormality of the skin	27086	FOXP1	OMIM:613670
HP:0000951	Abnormality of the skin	6774	STAT3	ORPHA:2314
HP:0000951	Abnormality of the skin	3930	LBR	ORPHA:779
HP:0000951	Abnormality of the skin	6868	ADAM17	ORPHA:294023
HP:0000951	Abnormality of the skin	1956	EGFR	ORPHA:294023
HP:0000951	Abnormality of the skin	4323	MMP14	ORPHA:371428
HP:0000951	Abnormality of the skin	3423	IDS	ORPHA:217085
HP:0000951	Abnormality of the skin	3423	IDS	ORPHA:217093
HP:0000951	Abnormality of the skin	3939	LDHA	ORPHA:284426
HP:0000951	Abnormality of the skin	6097	RORC	OMIM:616622
HP:0000951	Abnormality of the skin	3854	KRT6B	OMIM:615728
HP:0000951	Abnormality of the skin	3854	KRT6B	ORPHA:2309
HP:0000951	Abnormality of the skin	3868	KRT16	ORPHA:2309
HP:0000951	Abnormality of the skin	3853	KRT6A	ORPHA:2309
HP:0000951	Abnormality of the skin	7852	CXCR4	ORPHA:51636
HP:0000951	Abnormality of the skin	673	BRAF	OMIM:155600
HP:0000951	Abnormality of the skin	673	BRAF	ORPHA:626
HP:0000951	Abnormality of the skin	6794	STK11	OMIM:155600
HP:0000951	Abnormality of the skin	4286	MITF	OMIM:614456
HP:0000951	Abnormality of the skin	6660	SOX5	ORPHA:626
HP:0000951	Abnormality of the skin	238	ALK	ORPHA:626
HP:0000951	Abnormality of the skin	9839	ZEB2	ORPHA:626
HP:0000951	Abnormality of the skin	5894	RAF1	ORPHA:626
HP:0000951	Abnormality of the skin	1019	CDK4	OMIM:609048
HP:0000951	Abnormality of the skin	977	CD151	OMIM:609057
HP:0000951	Abnormality of the skin	5663	PSEN1	OMIM:613737
HP:0000951	Abnormality of the skin	50485	SMARCAL1	OMIM:242900
HP:0000951	Abnormality of the skin	7132	TNFRSF1A	ORPHA:32960
HP:0000951	Abnormality of the skin	102	ADAM10	OMIM:615537
HP:0000951	Abnormality of the skin	64840	PORCN	ORPHA:2092
HP:0000951	Abnormality of the skin	7507	XPA	ORPHA:910
HP:0000951	Abnormality of the skin	23384	SPECC1L	OMIM:145420
HP:0000951	Abnormality of the skin	3587	IL10RA	OMIM:613148
HP:0000951	Abnormality of the skin	3588	IL10RB	OMIM:612567
HP:0000951	Abnormality of the skin	3557	IL1RN	OMIM:612852
HP:0000951	Abnormality of the skin	50814	NSDHL	OMIM:308050
HP:0000951	Abnormality of the skin	79977	GRHL2	OMIM:616029
HP:0000951	Abnormality of the skin	5271	SERPINB8	OMIM:617115
HP:0000951	Abnormality of the skin	286887	KRT6C	OMIM:615735
HP:0000951	Abnormality of the skin	26525	IL36RN	OMIM:614204
HP:0000951	Abnormality of the skin	1828	DSG1	OMIM:148700
HP:0000951	Abnormality of the skin	3860	KRT13	OMIM:615785
HP:0000951	Abnormality of the skin	4014	LORICRIN	ORPHA:79395
HP:0000951	Abnormality of the skin	55252	ASXL2	OMIM:617190
HP:0000951	Abnormality of the skin	440275	EIF2AK4	ORPHA:199241
HP:0000951	Abnormality of the skin	10617	STAMBP	OMIM:614261
HP:0000951	Abnormality of the skin	64131	XYLT1	OMIM:264800
HP:0000951	Abnormality of the skin	64132	XYLT2	OMIM:264800
HP:0000951	Abnormality of the skin	545	ATR	OMIM:614564
HP:0000951	Abnormality of the skin	23545	ATP6V0A2	ORPHA:2834
HP:0000951	Abnormality of the skin	23545	ATP6V0A2	ORPHA:357074
HP:0000951	Abnormality of the skin	523	ATP6V1A	ORPHA:357074
HP:0000951	Abnormality of the skin	529	ATP6V1E1	ORPHA:357074
HP:0000951	Abnormality of the skin	3110	MNX1	ORPHA:1552
HP:0000951	Abnormality of the skin	4488	MSX2	OMIM:168550
HP:0000951	Abnormality of the skin	57688	ZSWIM6	ORPHA:1827
HP:0000951	Abnormality of the skin	6857	SYT1	ORPHA:522077
HP:0000951	Abnormality of the skin	91754	NEK9	ORPHA:64754
HP:0000951	Abnormality of the skin	10161	LPAR6	OMIM:278150
HP:0000951	Abnormality of the skin	93587	TRMT10A	ORPHA:391408
HP:0000951	Abnormality of the skin	93587	TRMT10A	OMIM:616033
HP:0000951	Abnormality of the skin	84919	PPP1R15B	ORPHA:391408
HP:0000951	Abnormality of the skin	9948	WDR1	OMIM:150550
HP:0000951	Abnormality of the skin	5580	PRKCD	OMIM:615559
HP:0000951	Abnormality of the skin	51371	POMP	OMIM:618048
HP:0000951	Abnormality of the skin	56945	MRPS22	OMIM:611719
HP:0000951	Abnormality of the skin	79796	ALG9	OMIM:608776
HP:0000951	Abnormality of the skin	55315	SLC29A3	ORPHA:168569
HP:0000951	Abnormality of the skin	5696	PSMB8	OMIM:256040
HP:0000951	Abnormality of the skin	2778	GNAS	ORPHA:562
HP:0000951	Abnormality of the skin	50940	PDE11A	ORPHA:1359
HP:0000951	Abnormality of the skin	1387	CREBBP	ORPHA:353281
HP:0000951	Abnormality of the skin	1387	CREBBP	ORPHA:353277
HP:0000951	Abnormality of the skin	8085	KMT2D	ORPHA:2322
HP:0000951	Abnormality of the skin	7403	KDM6A	ORPHA:2322
HP:0000951	Abnormality of the skin	2033	EP300	ORPHA:353284
HP:0000951	Abnormality of the skin	8379	MAD1L1	OMIM:620189
HP:0000951	Abnormality of the skin	56980	PRDM10	OMIM:620459
HP:0000951	Abnormality of the skin	4693	NDP	ORPHA:891
HP:0000951	Abnormality of the skin	23554	TSPAN12	ORPHA:891
HP:0000951	Abnormality of the skin	79797	ZNF408	ORPHA:891
HP:0000951	Abnormality of the skin	8322	FZD4	ORPHA:891
HP:0000951	Abnormality of the skin	23219	FBXO28	OMIM:619777
HP:0000951	Abnormality of the skin	2642	GCGR	ORPHA:438274
HP:0000951	Abnormality of the skin	139818	DOCK11	OMIM:301109
HP:0000951	Abnormality of the skin	4128	MAOA	OMIM:300615
HP:0000951	Abnormality of the skin	30817	ADGRE2	OMIM:125630
HP:0000951	Abnormality of the skin	4035	LRP1	OMIM:604093
HP:0000951	Abnormality of the skin	64788	LMF1	OMIM:246650
HP:0000951	Abnormality of the skin	219972	MPEG1	OMIM:619223
HP:0000951	Abnormality of the skin	3551	IKBKB	OMIM:618204
HP:0000951	Abnormality of the skin	56983	POGLUT1	ORPHA:79145
HP:0000951	Abnormality of the skin	3852	KRT5	ORPHA:79145
HP:0000951	Abnormality of the skin	23509	POFUT1	ORPHA:79145
HP:0000951	Abnormality of the skin	7535	ZAP70	OMIM:617006
HP:0000951	Abnormality of the skin	8710	SERPINB7	OMIM:615598
HP:0000951	Abnormality of the skin	8036	SHOC2	OMIM:607721
HP:0000951	Abnormality of the skin	3892	KRT86	OMIM:158000
HP:0000951	Abnormality of the skin	3887	KRT81	OMIM:158000
HP:0000951	Abnormality of the skin	3889	KRT83	OMIM:158000
HP:0000951	Abnormality of the skin	4141	MARS1	OMIM:619692
HP:0000951	Abnormality of the skin	79755	ZNF750	OMIM:610227
HP:0000951	Abnormality of the skin	6720	SREBF1	OMIM:158310
HP:0000951	Abnormality of the skin	1291	COL6A1	OMIM:158810
HP:0000951	Abnormality of the skin	1291	COL6A1	ORPHA:610
HP:0000951	Abnormality of the skin	341208	HEPHL1	OMIM:261990
HP:0000951	Abnormality of the skin	7286	TUFT1	OMIM:620415
HP:0000951	Abnormality of the skin	6655	SOS2	OMIM:616559
HP:0000951	Abnormality of the skin	6654	SOS1	OMIM:610733
HP:0000951	Abnormality of the skin	1292	COL6A2	ORPHA:610
HP:0000951	Abnormality of the skin	1293	COL6A3	ORPHA:610
HP:0000951	Abnormality of the skin	3071	NCKAP1L	OMIM:618982
HP:0000951	Abnormality of the skin	399	RHOH	OMIM:618307
HP:0000951	Abnormality of the skin	920	CD4	OMIM:619238
HP:0000951	Abnormality of the skin	23308	ICOSLG	OMIM:620825
HP:0000951	Abnormality of the skin	64170	CARD9	OMIM:212050
HP:0000951	Abnormality of the skin	81575	APOLD1	OMIM:620715
HP:0000951	Abnormality of the skin	23590	PDSS1	OMIM:614651
HP:0000951	Abnormality of the skin	3659	IRF1	OMIM:620668
HP:0000951	Abnormality of the skin	171019	ADAMTS19	OMIM:620067
HP:0000951	Abnormality of the skin	7046	TGFBR1	OMIM:609192
HP:0000951	Abnormality of the skin	7046	TGFBR1	OMIM:132800
HP:0000951	Abnormality of the skin	5950	RBP4	OMIM:615147
HP:0000951	Abnormality of the skin	7174	TPP2	OMIM:619220
HP:0000951	Abnormality of the skin	57169	ZNFX1	OMIM:619644
HP:0000951	Abnormality of the skin	4358	MPV17	OMIM:256810
HP:0000951	Abnormality of the skin	3559	IL2RA	OMIM:606367
HP:0000951	Abnormality of the skin	23581	CASP14	OMIM:617320
HP:0000951	Abnormality of the skin	57822	GRHL3	OMIM:606713
HP:0000951	Abnormality of the skin	57822	GRHL3	ORPHA:888
HP:0000951	Abnormality of the skin	3664	IRF6	ORPHA:1300
HP:0000951	Abnormality of the skin	3664	IRF6	ORPHA:141291
HP:0000951	Abnormality of the skin	3664	IRF6	ORPHA:888
HP:0000951	Abnormality of the skin	4487	MSX1	ORPHA:141291
HP:0000951	Abnormality of the skin	1410	CRYAB	OMIM:608810
HP:0000951	Abnormality of the skin	1188	CLCNKB	ORPHA:358
HP:0000951	Abnormality of the skin	6559	SLC12A3	ORPHA:358
HP:0000951	Abnormality of the skin	3514	IGKC	ORPHA:183675
HP:0000951	Abnormality of the skin	3501	IGHG2	ORPHA:183675
HP:0000951	Abnormality of the skin	284	ANGPT1	OMIM:619361
HP:0000951	Abnormality of the skin	26509	MYOF	OMIM:619366
HP:0000951	Abnormality of the skin	64711	HS3ST6	OMIM:619367
HP:0000951	Abnormality of the skin	3827	KNG1	OMIM:619363
HP:0000951	Abnormality of the skin	2161	F12	OMIM:610618
HP:0000951	Abnormality of the skin	10466	COG5	ORPHA:263487
HP:0000951	Abnormality of the skin	51116	MRPS2	OMIM:617950
HP:0000951	Abnormality of the skin	1861	TOR1A	OMIM:618947
HP:0000951	Abnormality of the skin	1173	AP2M1	ORPHA:1942
HP:0000951	Abnormality of the skin	340533	NEXMIF	ORPHA:1942
HP:0000951	Abnormality of the skin	1106	CHD2	ORPHA:1942
HP:0000951	Abnormality of the skin	6529	SLC6A1	ORPHA:1942
HP:0000951	Abnormality of the skin	6888	TALDO1	ORPHA:101028
HP:0000951	Abnormality of the skin	4047	LSS	ORPHA:1366
HP:0000951	Abnormality of the skin	4052	LTBP1	ORPHA:90349
HP:0000951	Abnormality of the skin	3122	HLA-DRA	ORPHA:505
HP:0000951	Abnormality of the skin	6786	STIM1	OMIM:612783
HP:0000951	Abnormality of the skin	2186	BPTF	OMIM:148000
HP:0000951	Abnormality of the skin	3569	IL6	OMIM:148000
HP:0000951	Abnormality of the skin	7293	TNFRSF4	OMIM:615593
HP:0000951	Abnormality of the skin	27032	ATP2C1	ORPHA:2841
HP:0000951	Abnormality of the skin	815	CAMK2A	OMIM:617798
HP:0000951	Abnormality of the skin	3074	HEXB	ORPHA:309155
HP:0000951	Abnormality of the skin	55617	TASP1	OMIM:618950
HP:0000951	Abnormality of the skin	3554	IL1R1	OMIM:259680
HP:0000951	Abnormality of the skin	130340	AP1S3	ORPHA:247353
HP:0000951	Abnormality of the skin	79718	TBL1XR1	ORPHA:487825
HP:0000951	Abnormality of the skin	7157	TP53	OMIM:260500
HP:0000951	Abnormality of the skin	7157	TP53	ORPHA:2807
HP:0000951	Abnormality of the skin	7253	TSHR	OMIM:609152
HP:0000951	Abnormality of the skin	5449	POU1F1	OMIM:613038
HP:0000951	Abnormality of the skin	3055	HCK	OMIM:620296
HP:0000951	Abnormality of the skin	2677	GGCX	ORPHA:436274
HP:0000951	Abnormality of the skin	2677	GGCX	ORPHA:91135
HP:0000951	Abnormality of the skin	5657	PRTN3	ORPHA:900
HP:0000951	Abnormality of the skin	3113	HLA-DPA1	ORPHA:900
HP:0000951	Abnormality of the skin	2776	GNAQ	ORPHA:624
HP:0000951	Abnormality of the skin	427	ASAH1	ORPHA:2590
HP:0000951	Abnormality of the skin	596	BCL2	ORPHA:545
HP:0000951	Abnormality of the skin	3492	IGH	ORPHA:545
HP:0000951	Abnormality of the skin	604	BCL6	ORPHA:545
HP:0000951	Abnormality of the skin	55343	SLC35C1	ORPHA:99843
HP:0000951	Abnormality of the skin	6340	SCNN1G	ORPHA:171876
HP:0000951	Abnormality of the skin	6337	SCNN1A	ORPHA:171876
HP:0000951	Abnormality of the skin	6338	SCNN1B	ORPHA:171876
HP:0000951	Abnormality of the skin	1500	CTNND1	ORPHA:1997
HP:0000951	Abnormality of the skin	999	CDH1	ORPHA:1997
HP:0000951	Abnormality of the skin	128240	NAXE	OMIM:617186
HP:0000951	Abnormality of the skin	1280	COL2A1	ORPHA:85198
HP:0000951	Abnormality of the skin	8974	P4HA2	ORPHA:397
HP:0000951	Abnormality of the skin	5238	PGM3	ORPHA:443811
HP:0000951	Abnormality of the skin	6890	TAP1	OMIM:604571
HP:0000951	Abnormality of the skin	9790	BMS1	ORPHA:1114
HP:0000951	Abnormality of the skin	10054	UBA2	ORPHA:1114
HP:0000951	Abnormality of the skin	5745	PTH1R	ORPHA:296
HP:0000951	Abnormality of the skin	3418	IDH2	ORPHA:296
HP:0000951	Abnormality of the skin	6573	SLC19A1	OMIM:620603
HP:0000951	Abnormality of the skin	2995	GYPC	ORPHA:288
HP:0000951	Abnormality of the skin	2632	GBE1	ORPHA:206583
HP:0000951	Abnormality of the skin	22948	CCT5	ORPHA:139578
HP:0000951	Abnormality of the skin	7454	WAS	ORPHA:906
HP:0000951	Abnormality of the skin	7456	WIPF1	ORPHA:906
HP:0000951	Abnormality of the skin	84868	HAVCR2	ORPHA:86884
HP:0000951	Abnormality of the skin	3593	IL12B	ORPHA:3287
HP:0000951	Abnormality of the skin	6945	MLX	ORPHA:3287
HP:0000951	Abnormality of the skin	9051	PSTPIP1	ORPHA:69126
HP:0000951	Abnormality of the skin	204	AK2	ORPHA:33355
HP:0000951	Abnormality of the skin	146206	CARMIL2	OMIM:618131
HP:0000951	Abnormality of the skin	8547	FCN3	OMIM:613860
HP:0000951	Abnormality of the skin	10625	IVNS1ABP	OMIM:618969
HP:0000951	Abnormality of the skin	55072	RNF31	OMIM:620632
HP:0000951	Abnormality of the skin	29927	SEC61A1	OMIM:620674
HP:0000951	Abnormality of the skin	54440	SASH3	OMIM:301082
HP:0000951	Abnormality of the skin	6789	STK4	OMIM:614868
HP:0000951	Abnormality of the skin	6929	TCF3	ORPHA:33110
HP:0000951	Abnormality of the skin	7922	SLC39A7	ORPHA:33110
HP:0000951	Abnormality of the skin	973	CD79A	ORPHA:33110
HP:0000951	Abnormality of the skin	974	CD79B	ORPHA:33110
HP:0000951	Abnormality of the skin	6688	SPI1	ORPHA:33110
HP:0000951	Abnormality of the skin	3543	IGLL1	ORPHA:33110
HP:0000951	Abnormality of the skin	3507	IGHM	ORPHA:33110
HP:0000951	Abnormality of the skin	29760	BLNK	ORPHA:33110
HP:0000951	Abnormality of the skin	5295	PIK3R1	ORPHA:33110
HP:0000951	Abnormality of the skin	56262	LRRC8A	ORPHA:33110
HP:0000951	Abnormality of the skin	1830	DSG3	OMIM:619226
HP:0000951	Abnormality of the skin	1080	CFTR	OMIM:219700
HP:0000951	Abnormality of the skin	2212	FCGR2A	OMIM:219700
HP:0000951	Abnormality of the skin	7040	TGFB1	OMIM:219700
HP:0000951	Abnormality of the skin	1287	COL4A5	OMIM:301050
HP:0007565	Multiple cafe-au-lait spots	4763	NF1	OMIM:601321
HP:0007565	Multiple cafe-au-lait spots	4763	NF1	OMIM:162200
HP:0007565	Multiple cafe-au-lait spots	4763	NF1	OMIM:193520
HP:0007565	Multiple cafe-au-lait spots	4763	NF1	ORPHA:638
HP:0007565	Multiple cafe-au-lait spots	4763	NF1	ORPHA:97685
HP:0007565	Multiple cafe-au-lait spots	4436	MSH2	OMIM:619096
HP:0007565	Multiple cafe-au-lait spots	2956	MSH6	OMIM:619097
HP:0007565	Multiple cafe-au-lait spots	5980	REV3L	ORPHA:570
HP:0007565	Multiple cafe-au-lait spots	23129	PLXND1	ORPHA:570
HP:0007565	Multiple cafe-au-lait spots	11253	MAN1B1	ORPHA:397941
HP:0007565	Multiple cafe-au-lait spots	2189	FANCG	OMIM:614082
HP:0007565	Multiple cafe-au-lait spots	2189	FANCG	ORPHA:84
HP:0007565	Multiple cafe-au-lait spots	8242	KDM5C	ORPHA:85279
HP:0007565	Multiple cafe-au-lait spots	5116	PCNT	ORPHA:2637
HP:0007565	Multiple cafe-au-lait spots	5604	MAP2K1	ORPHA:1340
HP:0007565	Multiple cafe-au-lait spots	5605	MAP2K2	ORPHA:1340
HP:0007565	Multiple cafe-au-lait spots	5605	MAP2K2	ORPHA:638
HP:0007565	Multiple cafe-au-lait spots	3845	KRAS	ORPHA:1340
HP:0007565	Multiple cafe-au-lait spots	673	BRAF	ORPHA:1340
HP:0007565	Multiple cafe-au-lait spots	5728	PTEN	ORPHA:109
HP:0007565	Multiple cafe-au-lait spots	5728	PTEN	ORPHA:201
HP:0007565	Multiple cafe-au-lait spots	672	BRCA1	ORPHA:84
HP:0007565	Multiple cafe-au-lait spots	10459	MAD2L2	ORPHA:84
HP:0007565	Multiple cafe-au-lait spots	7516	XRCC2	ORPHA:84
HP:0007565	Multiple cafe-au-lait spots	29089	UBE2T	ORPHA:84
HP:0007565	Multiple cafe-au-lait spots	675	BRCA2	ORPHA:84
HP:0007565	Multiple cafe-au-lait spots	55120	FANCL	ORPHA:84
HP:0007565	Multiple cafe-au-lait spots	2177	FANCD2	ORPHA:84
HP:0007565	Multiple cafe-au-lait spots	2175	FANCA	ORPHA:84
HP:0007565	Multiple cafe-au-lait spots	2187	FANCB	ORPHA:84
HP:0007565	Multiple cafe-au-lait spots	2176	FANCC	ORPHA:84
HP:0007565	Multiple cafe-au-lait spots	2178	FANCE	ORPHA:84
HP:0007565	Multiple cafe-au-lait spots	2188	FANCF	ORPHA:84
HP:0007565	Multiple cafe-au-lait spots	5888	RAD51	ORPHA:84
HP:0007565	Multiple cafe-au-lait spots	5889	RAD51C	ORPHA:84
HP:0007565	Multiple cafe-au-lait spots	55159	RFWD3	ORPHA:84
HP:0007565	Multiple cafe-au-lait spots	83990	BRIP1	ORPHA:84
HP:0007565	Multiple cafe-au-lait spots	83990	BRIP1	OMIM:609054
HP:0007565	Multiple cafe-au-lait spots	57697	FANCM	ORPHA:84
HP:0007565	Multiple cafe-au-lait spots	79728	PALB2	ORPHA:84
HP:0007565	Multiple cafe-au-lait spots	84464	SLX4	ORPHA:84
HP:0007565	Multiple cafe-au-lait spots	2072	ERCC4	ORPHA:84
HP:0007565	Multiple cafe-au-lait spots	55215	FANCI	ORPHA:84
HP:0007565	Multiple cafe-au-lait spots	11322	TMC6	ORPHA:302
HP:0007565	Multiple cafe-au-lait spots	3574	IL7	ORPHA:302
HP:0007565	Multiple cafe-au-lait spots	147138	TMC8	ORPHA:302
HP:0007565	Multiple cafe-au-lait spots	10519	CIB1	ORPHA:302
HP:0007565	Multiple cafe-au-lait spots	4292	MLH1	OMIM:276300
HP:0007565	Multiple cafe-au-lait spots	207	AKT1	ORPHA:744
HP:0007565	Multiple cafe-au-lait spots	207	AKT1	ORPHA:201
HP:0007565	Multiple cafe-au-lait spots	472	ATM	ORPHA:100
HP:0007565	Multiple cafe-au-lait spots	10483	SEC23B	ORPHA:201
HP:0007565	Multiple cafe-au-lait spots	6390	SDHB	ORPHA:201
HP:0007565	Multiple cafe-au-lait spots	6392	SDHD	ORPHA:201
HP:0007565	Multiple cafe-au-lait spots	6391	SDHC	ORPHA:201
HP:0007565	Multiple cafe-au-lait spots	205717	USF3	ORPHA:201
HP:0007565	Multiple cafe-au-lait spots	5290	PIK3CA	ORPHA:201
HP:0007565	Multiple cafe-au-lait spots	100144748	KLLN	ORPHA:201
HP:0007565	Multiple cafe-au-lait spots	117581	TWIST2	ORPHA:1807
HP:0007565	Multiple cafe-au-lait spots	10058	ABCB6	ORPHA:241
HP:0007565	Multiple cafe-au-lait spots	8626	TP63	ORPHA:69085
HP:0007565	Multiple cafe-au-lait spots	9184	BUB3	ORPHA:1052
HP:0007565	Multiple cafe-au-lait spots	699	BUB1	ORPHA:1052
HP:0007565	Multiple cafe-au-lait spots	9702	CEP57	ORPHA:1052
HP:0007565	Multiple cafe-au-lait spots	9319	TRIP13	ORPHA:1052
HP:0007565	Multiple cafe-au-lait spots	701	BUB1B	ORPHA:1052
HP:0007565	Multiple cafe-au-lait spots	5395	PMS2	OMIM:619101
HP:0007565	Multiple cafe-au-lait spots	473	RERE	OMIM:616975
HP:0007565	Multiple cafe-au-lait spots	161742	SPRED1	ORPHA:137605
HP:0007565	Multiple cafe-au-lait spots	5573	PRKAR1A	ORPHA:1359
HP:0007565	Multiple cafe-au-lait spots	50940	PDE11A	ORPHA:1359
HP:0007565	Multiple cafe-au-lait spots	2767	GNA11	ORPHA:1556
HP:0007565	Multiple cafe-au-lait spots	151188	ARL6IP6	ORPHA:1556
HP:0033556	Anti-nucleoporin 62 antibody positivity	2215	FCGR3B	ORPHA:536
HP:0033556	Anti-nucleoporin 62 antibody positivity	6775	STAT4	ORPHA:536
HP:0033556	Anti-nucleoporin 62 antibody positivity	3684	ITGAM	ORPHA:536
HP:0033556	Anti-nucleoporin 62 antibody positivity	3586	IL10	ORPHA:536
HP:0033556	Anti-nucleoporin 62 antibody positivity	221895	JAZF1	ORPHA:536
HP:0033556	Anti-nucleoporin 62 antibody positivity	11277	TREX1	ORPHA:536
HP:0033556	Anti-nucleoporin 62 antibody positivity	7292	TNFSF4	ORPHA:536
HP:0033556	Anti-nucleoporin 62 antibody positivity	640	BLK	ORPHA:536
HP:0033556	Anti-nucleoporin 62 antibody positivity	720	C4A	ORPHA:536
HP:0033556	Anti-nucleoporin 62 antibody positivity	55024	BANK1	ORPHA:536
HP:0033556	Anti-nucleoporin 62 antibody positivity	3500	IGHG1	ORPHA:536
HP:0033556	Anti-nucleoporin 62 antibody positivity	3654	IRAK1	ORPHA:536
HP:0033556	Anti-nucleoporin 62 antibody positivity	1493	CTLA4	ORPHA:536
HP:0033556	Anti-nucleoporin 62 antibody positivity	26191	PTPN22	ORPHA:536
HP:0033556	Anti-nucleoporin 62 antibody positivity	1380	CR2	ORPHA:536
HP:0033556	Anti-nucleoporin 62 antibody positivity	5133	PDCD1	ORPHA:536
HP:0033556	Anti-nucleoporin 62 antibody positivity	2113	ETS1	ORPHA:536
HP:0033556	Anti-nucleoporin 62 antibody positivity	2213	FCGR2B	ORPHA:536
HP:0033556	Anti-nucleoporin 62 antibody positivity	10318	TNIP1	ORPHA:536
HP:0033556	Anti-nucleoporin 62 antibody positivity	7332	UBE2L3	ORPHA:536
HP:0033556	Anti-nucleoporin 62 antibody positivity	79932	KIAA0319L	ORPHA:536
HP:0033556	Anti-nucleoporin 62 antibody positivity	4204	MECP2	ORPHA:536
HP:0033556	Anti-nucleoporin 62 antibody positivity	3663	IRF5	ORPHA:536
HP:0033556	Anti-nucleoporin 62 antibody positivity	3123	HLA-DRB1	ORPHA:536
HP:0033556	Anti-nucleoporin 62 antibody positivity	721	C4B	ORPHA:536
HP:0033556	Anti-nucleoporin 62 antibody positivity	1773	DNASE1	ORPHA:536
HP:0033556	Anti-nucleoporin 62 antibody positivity	51284	TLR7	ORPHA:536
HP:0033556	Anti-nucleoporin 62 antibody positivity	6696	SPP1	ORPHA:536
HP:0033556	Anti-nucleoporin 62 antibody positivity	54899	PXK	ORPHA:536
HP:0033556	Anti-nucleoporin 62 antibody positivity	7128	TNFAIP3	ORPHA:536
HP:0033557	Anti-proteinase 3 antibody positivity	1493	CTLA4	ORPHA:900
HP:0033557	Anti-proteinase 3 antibody positivity	26191	PTPN22	ORPHA:900
HP:0033557	Anti-proteinase 3 antibody positivity	3115	HLA-DPB1	ORPHA:900
HP:0033557	Anti-proteinase 3 antibody positivity	5657	PRTN3	ORPHA:900
HP:0033557	Anti-proteinase 3 antibody positivity	3113	HLA-DPA1	ORPHA:900
HP:0012720	Neoplasm of the nose	6794	STK11	ORPHA:2869
HP:0012720	Neoplasm of the nose	5573	PRKAR1A	ORPHA:1359
HP:0012720	Neoplasm of the nose	50940	PDE11A	ORPHA:1359
HP:0012721	Venous malformation	5290	PIK3CA	OMIM:612918
HP:0012721	Venous malformation	5290	PIK3CA	ORPHA:221061
HP:0012721	Venous malformation	5290	PIK3CA	OMIM:613089
HP:0012721	Venous malformation	5290	PIK3CA	ORPHA:140944
HP:0012721	Venous malformation	5290	PIK3CA	ORPHA:168984
HP:0012721	Venous malformation	11235	PDCD10	ORPHA:221061
HP:0012721	Venous malformation	83605	CCM2	ORPHA:221061
HP:0012721	Venous malformation	889	KRIT1	ORPHA:221061
HP:0012721	Venous malformation	11146	GLMN	ORPHA:83454
HP:0012721	Venous malformation	4488	MSX2	ORPHA:60015
HP:0012721	Venous malformation	60529	ALX4	ORPHA:60015
HP:0012721	Venous malformation	207	AKT1	OMIM:176920
HP:0012721	Venous malformation	207	AKT1	ORPHA:744
HP:0012721	Venous malformation	5921	RASA1	ORPHA:90307
HP:0012721	Venous malformation	7010	TEK	OMIM:600195
HP:0012722	Heart block	775	CACNA1C	OMIM:601005
HP:0012722	Heart block	6910	TBX5	ORPHA:392
HP:0012722	Heart block	3920	LAMP2	OMIM:300257
HP:0012722	Heart block	4607	MYBPC3	OMIM:115197
HP:0012722	Heart block	51422	PRKAG2	OMIM:600858
HP:0012722	Heart block	2879	GPX4	ORPHA:93317
HP:0012722	Heart block	1674	DES	ORPHA:98909
HP:0012722	Heart block	4519	MT-CYB	ORPHA:137675
HP:0012722	Heart block	189	AGXT	OMIM:259900
HP:0012722	Heart block	788	SLC25A20	OMIM:212138
HP:0012722	Heart block	2010	EMD	OMIM:310300
HP:0012722	Heart block	2010	EMD	ORPHA:98863
HP:0012722	Heart block	845	CASQ2	OMIM:604772
HP:0012722	Heart block	10345	TRDN	OMIM:604772
HP:0012722	Heart block	6262	RYR2	OMIM:604772
HP:0012722	Heart block	2717	GLA	ORPHA:324
HP:0012722	Heart block	2273	FHL1	ORPHA:98863
HP:0012722	Heart block	4313	MMP2	ORPHA:371428
HP:0012722	Heart block	4323	MMP14	ORPHA:371428
HP:0012722	Heart block	6330	SCN4B	OMIM:611819
HP:0012722	Heart block	37	ACADVL	ORPHA:26793
HP:0012722	Heart block	7276	TTR	ORPHA:85447
HP:0012722	Heart block	2318	FLNC	OMIM:617047
HP:0012722	Heart block	2783	GNB2	OMIM:619464
HP:0012722	Heart block	3762	KCNJ5	OMIM:613485
HP:0012722	Heart block	826	CAPNS1	OMIM:620777
HP:0012722	Heart block	88	ACTN2	OMIM:612158
HP:0012722	Heart block	781	CACNA2D1	ORPHA:51083
HP:0012722	Heart block	3759	KCNJ2	ORPHA:51083
HP:0012722	Heart block	3784	KCNQ1	ORPHA:51083
HP:0012722	Heart block	3757	KCNH2	ORPHA:51083
HP:0012722	Heart block	6508	SLC4A3	ORPHA:51083
HP:0012722	Heart block	7273	TTN	OMIM:604145
HP:0012722	Heart block	7273	TTN	OMIM:611705
HP:0012722	Heart block	7092	TLL1	ORPHA:99106
HP:0012722	Heart block	79188	TMEM43	ORPHA:98853
HP:0012722	Heart block	23345	SYNE1	ORPHA:98853
HP:0012722	Heart block	23224	SYNE2	ORPHA:98853
HP:0012722	Heart block	4635	MYL4	OMIM:617280
HP:0012722	Heart block	4509	MT-ATP8	ORPHA:480
HP:0012722	Heart block	4567	MT-TL1	ORPHA:480
HP:0012722	Heart block	50484	RRM2B	ORPHA:480
HP:0012722	Heart block	50619	DEF6	OMIM:619573
HP:0012722	Heart block	2902	GRIN1	OMIM:619814
HP:0012722	Heart block	5593	PRKG2	OMIM:619636
HP:0012722	Heart block	10021	HCN4	OMIM:163800
HP:0012722	Heart block	10021	HCN4	ORPHA:130
HP:0012722	Heart block	23630	KCNE5	ORPHA:130
HP:0012722	Heart block	10371	SEMA3A	ORPHA:130
HP:0012722	Heart block	3764	KCNJ8	ORPHA:130
HP:0012722	Heart block	3752	KCND3	ORPHA:130
HP:0012722	Heart block	5318	PKP2	ORPHA:130
HP:0012722	Heart block	7871	SLMAP	ORPHA:130
HP:0012722	Heart block	10060	ABCC9	ORPHA:130
HP:0012722	Heart block	29098	RANGRF	ORPHA:130
HP:0012722	Heart block	6336	SCN10A	ORPHA:130
HP:0012722	Heart block	10008	KCNE3	ORPHA:130
HP:0012722	Heart block	55800	SCN3B	ORPHA:130
HP:0012722	Heart block	10142	AKAP9	ORPHA:130
HP:0012722	Heart block	783	CACNB2	ORPHA:130
HP:0012722	Heart block	6337	SCNN1A	ORPHA:130
HP:0012722	Heart block	6327	SCN2B	ORPHA:130
HP:0012722	Heart block	23171	GPD1L	ORPHA:130
HP:0012722	Heart block	10681	GNB5	OMIM:617182
HP:0012722	Heart block	10681	GNB5	OMIM:617173
HP:0012722	Heart block	10681	GNB5	ORPHA:542306
HP:0012722	Heart block	4624	MYH6	OMIM:614090
HP:0012722	Heart block	151648	SGO1	OMIM:616201
HP:0012722	Heart block	4878	NPPA	ORPHA:1344
HP:0012722	Heart block	5663	PSEN1	OMIM:613694
HP:0012722	Heart block	5664	PSEN2	OMIM:613697
HP:0012722	Heart block	84665	MYPN	OMIM:617336
HP:0012722	Heart block	29119	CTNNA3	OMIM:615616
HP:0012722	Heart block	83475	DOHH	OMIM:620066
HP:0012722	Heart block	2702	GJA5	OMIM:108770
HP:0012722	Heart block	1837	DTNA	OMIM:604169
HP:0012722	Heart block	3777	KCNK3	OMIM:615344
HP:0012722	Heart block	23395	LARS2	OMIM:617021
HP:0012722	Heart block	776	CACNA1D	ORPHA:369929
HP:0012722	Heart block	776	CACNA1D	OMIM:615474
HP:0012722	Heart block	808	CALM3	OMIM:618782
HP:0012722	Heart block	11149	POPDC1	OMIM:616812
HP:0012722	Heart block	7716	VEZF1	OMIM:620247
HP:0012722	Heart block	100134444	KCNJ18	ORPHA:79102
HP:0012722	Heart block	2556	GABRA3	ORPHA:79102
HP:0012722	Heart block	779	CACNA1S	ORPHA:79102
HP:0012722	Heart block	57057	TBX20	ORPHA:99103
HP:0012722	Heart block	70	ACTC1	ORPHA:99103
HP:0012722	Heart block	10370	CITED2	ORPHA:99103
HP:0012722	Heart block	2626	GATA4	ORPHA:99103
HP:0012722	Heart block	2627	GATA6	ORPHA:99103
HP:0012722	Heart block	2239	GPC4	ORPHA:373
HP:0012722	Heart block	2719	GPC3	ORPHA:373
HP:0012722	Heart block	1760	DMPK	ORPHA:589821
HP:0012722	Heart block	5781	PTPN11	OMIM:151100
HP:0012722	Heart block	5781	PTPN11	ORPHA:500
HP:0012722	Heart block	673	BRAF	ORPHA:500
HP:0012722	Heart block	5894	RAF1	ORPHA:500
HP:0012722	Heart block	4625	MYH7	ORPHA:1880
HP:0012722	Heart block	4625	MYH7	OMIM:255160
HP:0012722	Heart block	7139	TNNT2	OMIM:115195
HP:0012722	Heart block	22947	DUX4L1	ORPHA:269
HP:0012722	Heart block	1789	DNMT3B	ORPHA:269
HP:0012722	Heart block	2483	FRG1	ORPHA:269
HP:0012722	Heart block	23347	SMCHD1	ORPHA:269
HP:0012722	Heart block	100288687	DUX4	ORPHA:269
HP:0012722	Heart block	5339	PLEC	ORPHA:254361
HP:0012722	Heart block	8291	DYSF	ORPHA:268
HP:0012722	Heart block	128869	PIGU	OMIM:618590
HP:0012722	Heart block	7555	CNBP	OMIM:602668
HP:0012722	Heart block	3728	JUP	OMIM:601214
HP:0012722	Heart block	221496	LEMD2	OMIM:619322
HP:0012722	Heart block	1829	DSG2	OMIM:610193
HP:0012722	Heart block	5500	PPP1CB	OMIM:617506
HP:0012722	Heart block	2992	GYG1	OMIM:613507
HP:0012722	Heart block	2992	GYG1	ORPHA:263297
HP:0012722	Heart block	56915	EXOSC5	OMIM:619576
HP:0012722	Heart block	442721	LMOD2	OMIM:619897
HP:0012722	Heart block	29954	POMT2	OMIM:613158
HP:0012722	Heart block	29954	POMT2	ORPHA:206559
HP:0012722	Heart block	8815	BANF1	OMIM:614008
HP:0012722	Heart block	2771	GNAI2	OMIM:192605
HP:0012722	Heart block	51086	TNNI3K	OMIM:616117
HP:0012722	Heart block	246243	RNASEH1	OMIM:616479
HP:0012722	Heart block	7134	TNNC1	OMIM:613243
HP:0012722	Heart block	529	ATP6V1E1	OMIM:617402
HP:0012722	Heart block	4633	MYL2	OMIM:608758
HP:0012722	Heart block	11232	POLG2	OMIM:610131
HP:0012722	Heart block	1000	CDH2	OMIM:618920
HP:0012722	Heart block	51778	MYOZ2	OMIM:613838
HP:0012722	Heart block	54795	TRPM4	ORPHA:871
HP:0012722	Heart block	1482	NKX2-5	ORPHA:871
HP:0012722	Heart block	6324	SCN1B	ORPHA:871
HP:0012722	Heart block	6331	SCN5A	ORPHA:871
HP:0012722	Heart block	5264	PHYH	ORPHA:773
HP:0012722	Heart block	5191	PEX7	ORPHA:773
HP:0012722	Heart block	6023	RMRP	ORPHA:175
HP:0012722	Heart block	8318	CDC45	OMIM:617063
HP:0012722	Heart block	4000	LMNA	ORPHA:300751
HP:0012722	Heart block	4035	LRP1	ORPHA:79100
HP:0012722	Heart block	11155	LDB3	ORPHA:98912
HP:0012722	Heart block	56244	BTNL2	ORPHA:797
HP:0012722	Heart block	3123	HLA-DRB1	ORPHA:797
HP:0012722	Heart block	1376	CPT2	ORPHA:228308
HP:0012722	Heart block	805	CALM2	OMIM:616249
HP:0012722	Heart block	801	CALM1	OMIM:616247
HP:0012723	Sinoatrial block	4000	LMNA	ORPHA:300751
HP:0012723	Sinoatrial block	2783	GNB2	OMIM:619464
HP:0012724	Upper eyelid edema	7994	KAT6A	OMIM:616268
HP:0012724	Upper eyelid edema	22907	DHX30	OMIM:617804
HP:0012724	Upper eyelid edema	55315	SLC29A3	ORPHA:168569
HP:0012724	Upper eyelid edema	116931	MED12L	OMIM:618872
HP:0012724	Upper eyelid edema	54453	RIN2	ORPHA:217335
HP:0012724	Upper eyelid edema	55691	FRMD4A	OMIM:616819
HP:0025005	Thickening of glomerular capillary wall	81494	CFHR5	OMIM:614809
HP:0025006	Abnormal glomerular capillary morphology	81494	CFHR5	OMIM:614809
HP:0025007	Ectopic fovea	8322	FZD4	OMIM:133780
HP:0025007	Ectopic fovea	4041	LRP5	OMIM:133780
HP:0012727	Thoracic aortic aneurysm	10526	IPO8	OMIM:619472
HP:0012727	Thoracic aortic aneurysm	1161	ERCC8	ORPHA:90324
HP:0012727	Thoracic aortic aneurysm	2074	ERCC6	ORPHA:90324
HP:0012727	Thoracic aortic aneurysm	490	ATP2B1	OMIM:619910
HP:0012727	Thoracic aortic aneurysm	8854	ALDH1A2	OMIM:620025
HP:0012727	Thoracic aortic aneurysm	81031	SLC2A10	ORPHA:3342
HP:0012727	Thoracic aortic aneurysm	81031	SLC2A10	OMIM:208050
HP:0012727	Thoracic aortic aneurysm	1788	DNMT3A	ORPHA:404443
HP:0012727	Thoracic aortic aneurysm	2200	FBN1	ORPHA:284979
HP:0012727	Thoracic aortic aneurysm	2200	FBN1	OMIM:129600
HP:0012727	Thoracic aortic aneurysm	2200	FBN1	OMIM:154700
HP:0012727	Thoracic aortic aneurysm	2200	FBN1	OMIM:616914
HP:0012727	Thoracic aortic aneurysm	2200	FBN1	ORPHA:91387
HP:0012727	Thoracic aortic aneurysm	27125	AFF4	ORPHA:444077
HP:0012727	Thoracic aortic aneurysm	23556	PIGN	ORPHA:280633
HP:0012727	Thoracic aortic aneurysm	1278	COL1A2	ORPHA:230851
HP:0012727	Thoracic aortic aneurysm	1289	COL5A1	OMIM:130000
HP:0012727	Thoracic aortic aneurysm	1289	COL5A1	ORPHA:287
HP:0012727	Thoracic aortic aneurysm	2201	FBN2	OMIM:121050
HP:0012727	Thoracic aortic aneurysm	30008	EFEMP2	OMIM:614437
HP:0012727	Thoracic aortic aneurysm	5500	PPP1CB	OMIM:617506
HP:0012727	Thoracic aortic aneurysm	51726	DNAJB11	ORPHA:730
HP:0012727	Thoracic aortic aneurysm	23193	GANAB	ORPHA:730
HP:0012727	Thoracic aortic aneurysm	5310	PKD1	ORPHA:730
HP:0012727	Thoracic aortic aneurysm	5311	PKD2	ORPHA:730
HP:0012727	Thoracic aortic aneurysm	29880	ALG5	ORPHA:730
HP:0012727	Thoracic aortic aneurysm	9742	IFT140	ORPHA:730
HP:0012727	Thoracic aortic aneurysm	79796	ALG9	ORPHA:730
HP:0012727	Thoracic aortic aneurysm	80114	BICC1	ORPHA:730
HP:0012727	Thoracic aortic aneurysm	3190	HNRNPK	OMIM:616580
HP:0012727	Thoracic aortic aneurysm	2332	FMR1	ORPHA:449291
HP:0012727	Thoracic aortic aneurysm	84665	MYPN	ORPHA:171881
HP:0012727	Thoracic aortic aneurysm	7169	TPM2	ORPHA:171881
HP:0012727	Thoracic aortic aneurysm	7170	TPM3	ORPHA:171881
HP:0012727	Thoracic aortic aneurysm	3756	KCNH1	OMIM:135500
HP:0012727	Thoracic aortic aneurysm	284058	KANSL1	OMIM:610443
HP:0012727	Thoracic aortic aneurysm	7048	TGFBR2	OMIM:610168
HP:0012727	Thoracic aortic aneurysm	7048	TGFBR2	ORPHA:91387
HP:0012727	Thoracic aortic aneurysm	5238	PGM3	OMIM:615816
HP:0012727	Thoracic aortic aneurysm	1277	COL1A1	ORPHA:287
HP:0012727	Thoracic aortic aneurysm	1290	COL5A2	ORPHA:287
HP:0012727	Thoracic aortic aneurysm	9469	CHST3	OMIM:245600
HP:0012727	Thoracic aortic aneurysm	26229	B3GAT3	OMIM:245600
HP:0012727	Thoracic aortic aneurysm	4883	NPR3	OMIM:619543
HP:0012727	Thoracic aortic aneurysm	633	BGN	OMIM:300989
HP:0012727	Thoracic aortic aneurysm	79576	NKAP	OMIM:301039
HP:0012727	Thoracic aortic aneurysm	833	CARS1	OMIM:618891
HP:0012727	Thoracic aortic aneurysm	7043	TGFB3	OMIM:615582
HP:0012727	Thoracic aortic aneurysm	7043	TGFB3	ORPHA:91387
HP:0012727	Thoracic aortic aneurysm	7543	ZFX	OMIM:301118
HP:0012727	Thoracic aortic aneurysm	54538	ROBO4	OMIM:618496
HP:0012727	Thoracic aortic aneurysm	25	ABL1	OMIM:617602
HP:0012727	Thoracic aortic aneurysm	79875	THSD4	OMIM:619825
HP:0012727	Thoracic aortic aneurysm	79875	THSD4	ORPHA:91387
HP:0012727	Thoracic aortic aneurysm	4281	MID1	ORPHA:2745
HP:0012727	Thoracic aortic aneurysm	4000	LMNA	ORPHA:363618
HP:0012727	Thoracic aortic aneurysm	23384	SPECC1L	OMIM:145420
HP:0012727	Thoracic aortic aneurysm	7046	TGFBR1	OMIM:609192
HP:0012727	Thoracic aortic aneurysm	7046	TGFBR1	ORPHA:91387
HP:0012727	Thoracic aortic aneurysm	5908	RAP1B	OMIM:620654
HP:0012727	Thoracic aortic aneurysm	7042	TGFB2	OMIM:614816
HP:0012727	Thoracic aortic aneurysm	7042	TGFB2	ORPHA:91387
HP:0012727	Thoracic aortic aneurysm	4089	SMAD4	ORPHA:91387
HP:0012727	Thoracic aortic aneurysm	5592	PRKG1	ORPHA:91387
HP:0012727	Thoracic aortic aneurysm	2301	FOXE3	ORPHA:91387
HP:0012727	Thoracic aortic aneurysm	4144	MAT2A	ORPHA:91387
HP:0012727	Thoracic aortic aneurysm	23493	HEY2	ORPHA:91387
HP:0012727	Thoracic aortic aneurysm	4638	MYLK	ORPHA:91387
HP:0012727	Thoracic aortic aneurysm	2006	ELN	ORPHA:91387
HP:0012727	Thoracic aortic aneurysm	55901	THSD1	ORPHA:231160
HP:0012727	Thoracic aortic aneurysm	7049	TGFBR3	ORPHA:231160
HP:0012727	Thoracic aortic aneurysm	1281	COL3A1	ORPHA:231160
HP:0012727	Thoracic aortic aneurysm	83854	ANGPTL6	ORPHA:231160
HP:0012727	Thoracic aortic aneurysm	2022	ENG	ORPHA:231160
HP:0012727	Thoracic aortic aneurysm	10269	ZMPSTE24	ORPHA:1662
HP:0012727	Thoracic aortic aneurysm	7058	THBS2	OMIM:620865
HP:0012727	Thoracic aortic aneurysm	9968	MED12	OMIM:309520
HP:0012727	Thoracic aortic aneurysm	3593	IL12B	ORPHA:3287
HP:0012727	Thoracic aortic aneurysm	3106	HLA-B	ORPHA:3287
HP:0012727	Thoracic aortic aneurysm	6945	MLX	ORPHA:3287
HP:0012727	Thoracic aortic aneurysm	171019	ADAMTS19	OMIM:620067
HP:0012727	Thoracic aortic aneurysm	4838	NODAL	OMIM:270100
HP:0012727	Thoracic aortic aneurysm	10516	FBLN5	OMIM:219100
HP:0012727	Thoracic aortic aneurysm	2972	BRF1	ORPHA:444072
HP:0012727	Thoracic aortic aneurysm	2703	GJA8	OMIM:612474
HP:0012727	Thoracic aortic aneurysm	2702	GJA5	OMIM:612474
HP:0012727	Thoracic aortic aneurysm	523	ATP6V1A	OMIM:617403
HP:0012727	Thoracic aortic aneurysm	4067	LYN	OMIM:620376
HP:0012727	Thoracic aortic aneurysm	6804	STX1A	ORPHA:904
HP:0012727	Thoracic aortic aneurysm	7461	CLIP2	ORPHA:904
HP:0012727	Thoracic aortic aneurysm	84277	DNAJC30	ORPHA:904
HP:0012727	Thoracic aortic aneurysm	8468	FKBP6	ORPHA:904
HP:0012727	Thoracic aortic aneurysm	5982	RFC2	ORPHA:904
HP:0012727	Thoracic aortic aneurysm	2969	GTF2I	ORPHA:904
HP:0012727	Thoracic aortic aneurysm	3984	LIMK1	ORPHA:904
HP:0012727	Thoracic aortic aneurysm	9569	GTF2IRD1	ORPHA:904
HP:0012727	Thoracic aortic aneurysm	155382	VPS37D	ORPHA:904
HP:0012727	Thoracic aortic aneurysm	155368	METTL27	ORPHA:904
HP:0012727	Thoracic aortic aneurysm	114049	BUD23	ORPHA:904
HP:0012727	Thoracic aortic aneurysm	7458	EIF4H	ORPHA:904
HP:0012727	Thoracic aortic aneurysm	84163	GTF2IRD2	ORPHA:904
HP:0012727	Thoracic aortic aneurysm	26608	TBL2	ORPHA:904
HP:0012727	Thoracic aortic aneurysm	653361	NCF1	ORPHA:904
HP:0012727	Thoracic aortic aneurysm	135886	TMEM270	ORPHA:904
HP:0012727	Thoracic aortic aneurysm	9031	BAZ1B	ORPHA:904
HP:0012727	Thoracic aortic aneurysm	4851	NOTCH1	ORPHA:402075
HP:0012727	Thoracic aortic aneurysm	1482	NKX2-5	ORPHA:402075
HP:0012727	Thoracic aortic aneurysm	140628	GATA5	ORPHA:402075
HP:0012727	Thoracic aortic aneurysm	4091	SMAD6	ORPHA:402075
HP:0012727	Thoracic aortic aneurysm	5590	PRKCZ	ORPHA:1606
HP:0012727	Thoracic aortic aneurysm	2563	GABRD	ORPHA:1606
HP:0012727	Thoracic aortic aneurysm	23013	SPEN	ORPHA:1606
HP:0012727	Thoracic aortic aneurysm	8510	MMP23B	ORPHA:1606
HP:0012727	Thoracic aortic aneurysm	7798	LUZP1	ORPHA:1606
HP:0012727	Thoracic aortic aneurysm	6497	SKI	ORPHA:1606
HP:0012727	Thoracic aortic aneurysm	10630	PDPN	ORPHA:1606
HP:0012727	Thoracic aortic aneurysm	3339	HSPG2	ORPHA:1606
HP:0012727	Thoracic aortic aneurysm	10277	UBE4B	ORPHA:1606
HP:0012727	Thoracic aortic aneurysm	8514	KCNAB2	ORPHA:1606
HP:0012727	Thoracic aortic aneurysm	473	RERE	ORPHA:1606
HP:0012727	Thoracic aortic aneurysm	63976	PRDM16	ORPHA:1606
HP:0012727	Thoracic aortic aneurysm	54897	CASZ1	ORPHA:1606
HP:0012727	Thoracic aortic aneurysm	55636	CHD7	ORPHA:138
HP:0012727	Thoracic aortic aneurysm	9723	SEMA3E	ORPHA:138
HP:0012727	Thoracic aortic aneurysm	2316	FLNA	OMIM:304120
HP:0012727	Thoracic aortic aneurysm	126792	B3GALT6	ORPHA:536467
HP:0012727	Thoracic aortic aneurysm	4629	MYH11	OMIM:619351
HP:0012727	Thoracic aortic aneurysm	4629	MYH11	OMIM:132900
HP:0012727	Thoracic aortic aneurysm	4015	LOX	OMIM:617168
HP:0012727	Thoracic aortic aneurysm	165	AEBP1	OMIM:618000
HP:0012727	Thoracic aortic aneurysm	8076	MFAP5	OMIM:616166
HP:0012727	Thoracic aortic aneurysm	529	ATP6V1E1	OMIM:617402
HP:0012727	Thoracic aortic aneurysm	4088	SMAD3	OMIM:613795
HP:0012727	Thoracic aortic aneurysm	4087	SMAD2	OMIM:619656
HP:0012727	Thoracic aortic aneurysm	4087	SMAD2	OMIM:619657
HP:0012727	Thoracic aortic aneurysm	59	ACTA2	OMIM:613834
HP:0012727	Thoracic aortic aneurysm	59	ACTA2	OMIM:611788
HP:0012725	Cutaneous syndactyly	2188	FANCF	OMIM:603467
HP:0012725	Cutaneous syndactyly	50964	SOST	OMIM:269500
HP:0012725	Cutaneous syndactyly	50964	SOST	ORPHA:3152
HP:0012725	Cutaneous syndactyly	6910	TBX5	OMIM:142900
HP:0012725	Cutaneous syndactyly	1832	DSP	ORPHA:158687
HP:0012725	Cutaneous syndactyly	3728	JUP	ORPHA:158687
HP:0012725	Cutaneous syndactyly	1001	CDH3	OMIM:225280
HP:0012725	Cutaneous syndactyly	2719	GPC3	OMIM:312870
HP:0012725	Cutaneous syndactyly	2239	GPC4	OMIM:312870
HP:0012725	Cutaneous syndactyly	51057	WDPCP	OMIM:217085
HP:0012725	Cutaneous syndactyly	51057	WDPCP	ORPHA:1338
HP:0012725	Cutaneous syndactyly	50814	NSDHL	OMIM:308050
HP:0012725	Cutaneous syndactyly	1147	CHUK	OMIM:619339
HP:0012725	Cutaneous syndactyly	7291	TWIST1	OMIM:617746
HP:0012725	Cutaneous syndactyly	25914	RTTN	ORPHA:468631
HP:0012725	Cutaneous syndactyly	1717	DHCR7	OMIM:270400
HP:0012725	Cutaneous syndactyly	4204	MECP2	OMIM:300260
HP:0012725	Cutaneous syndactyly	54880	BCOR	OMIM:300166
HP:0012725	Cutaneous syndactyly	8295	TRRAP	OMIM:618454
HP:0012725	Cutaneous syndactyly	91179	SCARF2	OMIM:600920
HP:0012725	Cutaneous syndactyly	23288	IQCE	OMIM:617642
HP:0012725	Cutaneous syndactyly	5587	PRKD1	OMIM:617364
HP:0012725	Cutaneous syndactyly	55784	MCTP2	ORPHA:1596
HP:0012725	Cutaneous syndactyly	23261	CAMTA1	OMIM:614756
HP:0012725	Cutaneous syndactyly	8823	FGF16	OMIM:309630
HP:0012725	Cutaneous syndactyly	64093	SMOC1	OMIM:206920
HP:0012725	Cutaneous syndactyly	253738	EBF3	ORPHA:96148
HP:0012725	Cutaneous syndactyly	10522	DEAF1	OMIM:615828
HP:0012725	Cutaneous syndactyly	10079	ATP9A	OMIM:620242
HP:0012725	Cutaneous syndactyly	2556	GABRA3	OMIM:301091
HP:0012725	Cutaneous syndactyly	6309	SC5D	OMIM:607330
HP:0012725	Cutaneous syndactyly	51776	MAP3K20	ORPHA:488232
HP:0012725	Cutaneous syndactyly	374969	SVBP	OMIM:618569
HP:0012725	Cutaneous syndactyly	1859	DYRK1A	ORPHA:268261
HP:0012725	Cutaneous syndactyly	64327	LMBR1	OMIM:186200
HP:0012725	Cutaneous syndactyly	9791	PTDSS1	OMIM:151050
HP:0012725	Cutaneous syndactyly	4621	MYH3	OMIM:178110
HP:0012725	Cutaneous syndactyly	63895	PIEZO2	OMIM:114300
HP:0012725	Cutaneous syndactyly	4998	ORC1	OMIM:224690
HP:0012725	Cutaneous syndactyly	22856	CHSY1	ORPHA:363417
HP:0012725	Cutaneous syndactyly	5818	NECTIN1	OMIM:225060
HP:0012725	Cutaneous syndactyly	81607	NECTIN4	OMIM:613573
HP:0012725	Cutaneous syndactyly	4038	LRP4	OMIM:614305
HP:0012725	Cutaneous syndactyly	9241	NOG	OMIM:611377
HP:0012725	Cutaneous syndactyly	9241	NOG	OMIM:186500
HP:0012725	Cutaneous syndactyly	147372	CCBE1	OMIM:235510
HP:0012725	Cutaneous syndactyly	1009	CDH11	OMIM:211380
HP:0012725	Cutaneous syndactyly	5077	PAX3	OMIM:148820
HP:0012725	Cutaneous syndactyly	5077	PAX3	ORPHA:896
HP:0012725	Cutaneous syndactyly	3239	HOXD13	OMIM:186300
HP:0012725	Cutaneous syndactyly	117581	TWIST2	OMIM:200110
HP:0012725	Cutaneous syndactyly	4920	ROR2	OMIM:113000
HP:0012725	Cutaneous syndactyly	26040	SETBP1	OMIM:616078
HP:0012725	Cutaneous syndactyly	3664	IRF6	OMIM:119500
HP:0012725	Cutaneous syndactyly	57728	WDR19	OMIM:614378
HP:0012725	Cutaneous syndactyly	55012	PPP2R3C	OMIM:618419
HP:0012725	Cutaneous syndactyly	1954	MEGF8	OMIM:614976
HP:0012725	Cutaneous syndactyly	2737	GLI3	OMIM:174200
HP:0012725	Cutaneous syndactyly	2737	GLI3	ORPHA:93322
HP:0012725	Cutaneous syndactyly	79633	FAT4	OMIM:615546
HP:0012725	Cutaneous syndactyly	8642	DCHS1	OMIM:601390
HP:0012725	Cutaneous syndactyly	4626	MYH8	OMIM:158300
HP:0012725	Cutaneous syndactyly	6134	RPL10	OMIM:300998
HP:0012725	Cutaneous syndactyly	2033	EP300	OMIM:618333
HP:0012725	Cutaneous syndactyly	2254	FGF9	OMIM:612961
HP:0012725	Cutaneous syndactyly	64116	SLC39A8	ORPHA:468699
HP:0012725	Cutaneous syndactyly	56916	SMARCAD1	OMIM:129200
HP:0012725	Cutaneous syndactyly	2697	GJA1	OMIM:186100
HP:0012725	Cutaneous syndactyly	2697	GJA1	OMIM:164200
HP:0012725	Cutaneous syndactyly	2697	GJA1	OMIM:257850
HP:0012725	Cutaneous syndactyly	23327	NEDD4L	OMIM:617201
HP:0012725	Cutaneous syndactyly	6469	SHH	ORPHA:93405
HP:0012725	Cutaneous syndactyly	8318	CDC45	OMIM:617063
HP:0012725	Cutaneous syndactyly	64840	PORCN	OMIM:305600
HP:0012725	Cutaneous syndactyly	1947	EFNB1	OMIM:304110
HP:0012725	Cutaneous syndactyly	8294	H4C9	OMIM:619951
HP:0012725	Cutaneous syndactyly	7994	KAT6A	OMIM:616268
HP:0012725	Cutaneous syndactyly	10586	MAB21L2	OMIM:615877
HP:0012725	Cutaneous syndactyly	284252	KCTD1	OMIM:181270
HP:0012725	Cutaneous syndactyly	6299	SALL1	OMIM:107480
HP:0012725	Cutaneous syndactyly	8626	TP63	ORPHA:69085
HP:0012725	Cutaneous syndactyly	583	BBS2	OMIM:615981
HP:0012725	Cutaneous syndactyly	79639	TMEM53	OMIM:619727
HP:0012725	Cutaneous syndactyly	65250	CPLANE1	OMIM:614615
HP:0012725	Cutaneous syndactyly	5290	PIK3CA	ORPHA:314662
HP:0012725	Cutaneous syndactyly	5290	PIK3CA	ORPHA:140944
HP:0012725	Cutaneous syndactyly	775	CACNA1C	OMIM:601005
HP:0012725	Cutaneous syndactyly	775	CACNA1C	OMIM:620029
HP:0012725	Cutaneous syndactyly	341640	FREM2	ORPHA:2052
HP:0012725	Cutaneous syndactyly	341640	FREM2	OMIM:617666
HP:0012725	Cutaneous syndactyly	80144	FRAS1	ORPHA:2052
HP:0012725	Cutaneous syndactyly	23426	GRIP1	ORPHA:2052
HP:0012725	Cutaneous syndactyly	23426	GRIP1	OMIM:617667
HP:0012725	Cutaneous syndactyly	1387	CREBBP	ORPHA:592574
HP:0012725	Cutaneous syndactyly	29123	ANKRD11	ORPHA:2332
HP:0012725	Cutaneous syndactyly	29123	ANKRD11	OMIM:148050
HP:0012725	Cutaneous syndactyly	64131	XYLT1	OMIM:615777
HP:0012725	Cutaneous syndactyly	150468	CKAP2L	OMIM:272440
HP:0012725	Cutaneous syndactyly	55165	CEP55	OMIM:236500
HP:0012725	Cutaneous syndactyly	526	ATP6V1B2	ORPHA:79500
HP:0012725	Cutaneous syndactyly	57465	TBC1D24	ORPHA:79500
HP:0012725	Cutaneous syndactyly	9896	FIG4	OMIM:216340
HP:0012725	Cutaneous syndactyly	727857	BHLHA9	OMIM:607539
HP:0012725	Cutaneous syndactyly	1500	CTNND1	OMIM:617681
HP:0012725	Cutaneous syndactyly	4212	MEIS2	OMIM:600987
HP:0012725	Cutaneous syndactyly	29998	BICRA	OMIM:619325
HP:0012725	Cutaneous syndactyly	84162	BLTP1	OMIM:617822
HP:0012725	Cutaneous syndactyly	83479	DDX59	OMIM:174300
HP:0012725	Cutaneous syndactyly	9772	TMEM94	OMIM:618316
HP:0012725	Cutaneous syndactyly	999	CDH1	OMIM:119580
HP:0012725	Cutaneous syndactyly	2263	FGFR2	OMIM:101200
HP:0012725	Cutaneous syndactyly	64864	RFX7	OMIM:620330
HP:0012725	Cutaneous syndactyly	374654	KIF7	ORPHA:166024
HP:0012725	Cutaneous syndactyly	8241	RBM10	OMIM:311900
HP:0012725	Cutaneous syndactyly	2260	FGFR1	OMIM:101600
HP:0012726	Episodic hypokalemia	6329	SCN4A	ORPHA:681
HP:0012726	Episodic hypokalemia	779	CACNA1S	ORPHA:681
HP:0012726	Episodic hypokalemia	779	CACNA1S	ORPHA:79102
HP:0012726	Episodic hypokalemia	10008	KCNE3	ORPHA:681
HP:0012726	Episodic hypokalemia	100134444	KCNJ18	ORPHA:79102
HP:0012726	Episodic hypokalemia	2556	GABRA3	ORPHA:79102
HP:0012726	Episodic hypokalemia	476	ATP1A1	ORPHA:564178
HP:0033559	Anti-myeloperoxidase antibody positivity	1499	CTNNB1	ORPHA:91414
HP:0033559	Anti-myeloperoxidase antibody positivity	1493	CTLA4	ORPHA:900
HP:0033559	Anti-myeloperoxidase antibody positivity	26191	PTPN22	ORPHA:900
HP:0033559	Anti-myeloperoxidase antibody positivity	3115	HLA-DPB1	ORPHA:900
HP:0033559	Anti-myeloperoxidase antibody positivity	5657	PRTN3	ORPHA:900
HP:0033559	Anti-myeloperoxidase antibody positivity	3113	HLA-DPA1	ORPHA:900
HP:0007428	Telangiectasia of the oral mucosa	4668	NAGA	ORPHA:79280
HP:0007428	Telangiectasia of the oral mucosa	4668	NAGA	OMIM:609242
HP:0007429	Few cafe-au-lait spots	4763	NF1	OMIM:162200
HP:0007429	Few cafe-au-lait spots	2783	GNB2	OMIM:619503
HP:0007429	Few cafe-au-lait spots	6418	SET	OMIM:618106
HP:0007429	Few cafe-au-lait spots	5932	RBBP8	OMIM:606744
HP:0007429	Few cafe-au-lait spots	9319	TRIP13	OMIM:617598
HP:0007429	Few cafe-au-lait spots	673	BRAF	OMIM:613707
HP:0007429	Few cafe-au-lait spots	64864	RFX7	OMIM:620330
HP:0007420	Spontaneous hematomas	2165	F13B	ORPHA:331
HP:0007420	Spontaneous hematomas	2162	F13A1	ORPHA:331
HP:0007420	Spontaneous hematomas	2162	F13A1	OMIM:613225
HP:0007420	Spontaneous hematomas	2533	FYB1	OMIM:273900
HP:0007420	Spontaneous hematomas	538	ATP7A	ORPHA:565
HP:0007420	Spontaneous hematomas	5054	SERPINE1	ORPHA:465
HP:0007420	Spontaneous hematomas	2157	F8	ORPHA:177926
HP:0007420	Spontaneous hematomas	2157	F8	ORPHA:169805
HP:0007420	Spontaneous hematomas	2811	GP1BA	ORPHA:274
HP:0007420	Spontaneous hematomas	2811	GP1BA	ORPHA:853
HP:0007420	Spontaneous hematomas	2812	GP1BB	ORPHA:274
HP:0007420	Spontaneous hematomas	2812	GP1BB	ORPHA:853
HP:0007420	Spontaneous hematomas	2815	GP9	ORPHA:274
HP:0007420	Spontaneous hematomas	84342	COG8	OMIM:611182
HP:0007420	Spontaneous hematomas	84342	COG8	ORPHA:95428
HP:0007420	Spontaneous hematomas	5568	PRKACG	OMIM:616176
HP:0007420	Spontaneous hematomas	3674	ITGA2B	ORPHA:849
HP:0007420	Spontaneous hematomas	3674	ITGA2B	ORPHA:853
HP:0007420	Spontaneous hematomas	3690	ITGB3	ORPHA:849
HP:0007420	Spontaneous hematomas	3690	ITGB3	ORPHA:853
HP:0007420	Spontaneous hematomas	7454	WAS	ORPHA:906
HP:0007420	Spontaneous hematomas	7456	WIPF1	ORPHA:906
HP:0007420	Spontaneous hematomas	2159	F10	ORPHA:328
HP:0007420	Spontaneous hematomas	3673	ITGA2	ORPHA:853
HP:0007420	Spontaneous hematomas	135228	CD109	ORPHA:853
HP:0007420	Spontaneous hematomas	2153	F5	ORPHA:326
HP:0007421	Telangiectases of the cheeks	79158	GNPTAB	ORPHA:576
HP:0007421	Telangiectases of the cheeks	5426	POLE	OMIM:615139
HP:0007421	Telangiectases of the cheeks	831	CAST	OMIM:616295
HP:0007421	Telangiectases of the cheeks	81031	SLC2A10	OMIM:208050
HP:0007477	Abnormal dermatoglyphics	58499	ZNF462	ORPHA:502430
HP:0007477	Abnormal dermatoglyphics	58499	ZNF462	OMIM:618619
HP:0007477	Abnormal dermatoglyphics	23394	ADNP	ORPHA:404448
HP:0007477	Abnormal dermatoglyphics	340533	NEXMIF	OMIM:300912
HP:0007477	Abnormal dermatoglyphics	8294	H4C9	OMIM:619951
HP:0007477	Abnormal dermatoglyphics	83932	SPRTN	OMIM:616200
HP:0007477	Abnormal dermatoglyphics	8425	LTBP4	OMIM:613177
HP:0007477	Abnormal dermatoglyphics	51126	NAA20	OMIM:619717
HP:0007477	Abnormal dermatoglyphics	2972	BRF1	OMIM:616202
HP:0007477	Abnormal dermatoglyphics	2972	BRF1	ORPHA:444072
HP:0007477	Abnormal dermatoglyphics	6228	RPS23	OMIM:617412
HP:0007477	Abnormal dermatoglyphics	5885	RAD21	OMIM:614701
HP:0007477	Abnormal dermatoglyphics	55627	SMPD4	OMIM:618622
HP:0007477	Abnormal dermatoglyphics	81857	MED25	OMIM:616449
HP:0007477	Abnormal dermatoglyphics	81857	MED25	ORPHA:464738
HP:0007477	Abnormal dermatoglyphics	123263	MTFMT	OMIM:614947
HP:0007477	Abnormal dermatoglyphics	10274	STAG1	ORPHA:502434
HP:0007477	Abnormal dermatoglyphics	5830	PEX5	OMIM:214110
HP:0007477	Abnormal dermatoglyphics	197131	UBR1	OMIM:243800
HP:0007477	Abnormal dermatoglyphics	9578	CDC42BPB	OMIM:619841
HP:0007477	Abnormal dermatoglyphics	3020	H3-3A	OMIM:619720
HP:0007477	Abnormal dermatoglyphics	10300	KATNB1	OMIM:616212
HP:0007477	Abnormal dermatoglyphics	89910	UBE3B	OMIM:244450
HP:0007477	Abnormal dermatoglyphics	51506	UFC1	OMIM:618076
HP:0007477	Abnormal dermatoglyphics	55790	CSGALNACT1	OMIM:618870
HP:0007477	Abnormal dermatoglyphics	4010	LMX1B	ORPHA:495818
HP:0007477	Abnormal dermatoglyphics	6812	STXBP1	ORPHA:495818
HP:0007477	Abnormal dermatoglyphics	2137	EXTL3	OMIM:617425
HP:0007477	Abnormal dermatoglyphics	22858	CILK1	OMIM:612651
HP:0007477	Abnormal dermatoglyphics	9382	COG1	OMIM:611209
HP:0007477	Abnormal dermatoglyphics	5189	PEX1	OMIM:214100
HP:0007477	Abnormal dermatoglyphics	6197	RPS6KA3	OMIM:303600
HP:0007477	Abnormal dermatoglyphics	84987	COX14	OMIM:619053
HP:0007477	Abnormal dermatoglyphics	57492	ARID1B	OMIM:135900
HP:0007477	Abnormal dermatoglyphics	54453	RIN2	OMIM:613075
HP:0007477	Abnormal dermatoglyphics	3899	AFF3	OMIM:619297
HP:0007477	Abnormal dermatoglyphics	25885	POLR1A	OMIM:616462
HP:0007477	Abnormal dermatoglyphics	80204	FBXO11	OMIM:618089
HP:0007477	Abnormal dermatoglyphics	50814	NSDHL	OMIM:308050
HP:0007477	Abnormal dermatoglyphics	92579	G6PC3	OMIM:612541
HP:0007477	Abnormal dermatoglyphics	93627	TBCK	OMIM:616900
HP:0007477	Abnormal dermatoglyphics	114034	TOE1	OMIM:614969
HP:0007477	Abnormal dermatoglyphics	157680	VPS13B	OMIM:216550
HP:0007477	Abnormal dermatoglyphics	7020	TFAP2A	OMIM:113620
HP:0007477	Abnormal dermatoglyphics	9896	FIG4	ORPHA:3472
HP:0007477	Abnormal dermatoglyphics	9896	FIG4	OMIM:216340
HP:0007477	Abnormal dermatoglyphics	55697	VAC14	ORPHA:3472
HP:0007477	Abnormal dermatoglyphics	652	BMP4	OMIM:607932
HP:0007477	Abnormal dermatoglyphics	5442	POLRMT	OMIM:619743
HP:0007477	Abnormal dermatoglyphics	132158	GLYCTK	OMIM:220120
HP:0007477	Abnormal dermatoglyphics	23036	ZNF292	OMIM:619188
HP:0007477	Abnormal dermatoglyphics	55148	UBR7	OMIM:619189
HP:0007477	Abnormal dermatoglyphics	4591	TRIM37	OMIM:253250
HP:0007477	Abnormal dermatoglyphics	79813	EHMT1	OMIM:610253
HP:0007477	Abnormal dermatoglyphics	55012	PPP2R3C	OMIM:618419
HP:0007477	Abnormal dermatoglyphics	1954	MEGF8	OMIM:614976
HP:0007477	Abnormal dermatoglyphics	2783	GNB2	OMIM:619503
HP:0007477	Abnormal dermatoglyphics	7468	NSD2	OMIM:194190
HP:0007477	Abnormal dermatoglyphics	10815	CPLX1	OMIM:194190
HP:0007477	Abnormal dermatoglyphics	1487	CTBP1	OMIM:194190
HP:0007477	Abnormal dermatoglyphics	53834	FGFRL1	OMIM:194190
HP:0007477	Abnormal dermatoglyphics	3954	LETM1	OMIM:194190
HP:0007477	Abnormal dermatoglyphics	26040	SETBP1	OMIM:269150
HP:0007477	Abnormal dermatoglyphics	26834	RNU4-2	OMIM:620851
HP:0007477	Abnormal dermatoglyphics	727857	BHLHA9	OMIM:609432
HP:0007477	Abnormal dermatoglyphics	8241	RBM10	OMIM:311900
HP:0007477	Abnormal dermatoglyphics	8241	RBM10	ORPHA:2886
HP:0007477	Abnormal dermatoglyphics	1802	DPH2	OMIM:620062
HP:0007477	Abnormal dermatoglyphics	1186	CLCN7	OMIM:618541
HP:0007477	Abnormal dermatoglyphics	55768	NGLY1	OMIM:615273
HP:0007477	Abnormal dermatoglyphics	54539	NDUFB11	OMIM:309801
HP:0007477	Abnormal dermatoglyphics	1349	COX7B	OMIM:309801
HP:0007477	Abnormal dermatoglyphics	3052	HCCS	OMIM:309801
HP:0007477	Abnormal dermatoglyphics	63895	PIEZO2	OMIM:114300
HP:0007477	Abnormal dermatoglyphics	5190	PEX6	OMIM:614863
HP:0007477	Abnormal dermatoglyphics	9681	DEPDC5	OMIM:620504
HP:0007477	Abnormal dermatoglyphics	5828	PEX2	OMIM:614866
HP:0007477	Abnormal dermatoglyphics	150468	CKAP2L	OMIM:272440
HP:0007477	Abnormal dermatoglyphics	6134	RPL10	ORPHA:459070
HP:0007477	Abnormal dermatoglyphics	6134	RPL10	OMIM:300998
HP:0007477	Abnormal dermatoglyphics	6134	RPL10	ORPHA:435938
HP:0007477	Abnormal dermatoglyphics	55165	CEP55	OMIM:236500
HP:0007477	Abnormal dermatoglyphics	23137	SMC5	OMIM:620185
HP:0007477	Abnormal dermatoglyphics	27086	FOXP1	ORPHA:391372
HP:0007477	Abnormal dermatoglyphics	388015	RTL1	ORPHA:96334
HP:0007477	Abnormal dermatoglyphics	388015	RTL1	ORPHA:254528
HP:0007477	Abnormal dermatoglyphics	8788	DLK1	ORPHA:96334
HP:0007477	Abnormal dermatoglyphics	8788	DLK1	ORPHA:254528
HP:0007477	Abnormal dermatoglyphics	55384	MEG3	ORPHA:96334
HP:0007477	Abnormal dermatoglyphics	55384	MEG3	ORPHA:254528
HP:0007477	Abnormal dermatoglyphics	6925	TCF4	OMIM:610954
HP:0007477	Abnormal dermatoglyphics	6925	TCF4	ORPHA:2896
HP:0007477	Abnormal dermatoglyphics	10430	TMEM147	OMIM:620075
HP:0007477	Abnormal dermatoglyphics	4920	ROR2	OMIM:268310
HP:0007477	Abnormal dermatoglyphics	23483	TGDS	OMIM:616145
HP:0007477	Abnormal dermatoglyphics	6611	SMS	OMIM:309583
HP:0007477	Abnormal dermatoglyphics	25836	NIPBL	OMIM:122470
HP:0007477	Abnormal dermatoglyphics	23219	FBXO28	OMIM:619777
HP:0007477	Abnormal dermatoglyphics	2146	EZH2	OMIM:277590
HP:0007477	Abnormal dermatoglyphics	4087	SMAD2	OMIM:619657
HP:0007477	Abnormal dermatoglyphics	2316	FLNA	ORPHA:1826
HP:0007477	Abnormal dermatoglyphics	6885	MAP3K7	ORPHA:1826
HP:0007477	Abnormal dermatoglyphics	51322	WAC	ORPHA:466950
HP:0007477	Abnormal dermatoglyphics	6595	SMARCA2	OMIM:601358
HP:0007477	Abnormal dermatoglyphics	29123	ANKRD11	OMIM:148050
HP:0007477	Abnormal dermatoglyphics	29123	ANKRD11	ORPHA:2332
HP:0007477	Abnormal dermatoglyphics	2703	GJA8	OMIM:612474
HP:0007477	Abnormal dermatoglyphics	2702	GJA5	OMIM:612474
HP:0007477	Abnormal dermatoglyphics	4208	MEF2C	OMIM:613443
HP:0007477	Abnormal dermatoglyphics	55690	PACS1	ORPHA:329224
HP:0007477	Abnormal dermatoglyphics	6878	TAF6	OMIM:617126
HP:0007477	Abnormal dermatoglyphics	22907	DHX30	OMIM:617804
HP:0007477	Abnormal dermatoglyphics	11338	U2AF2	OMIM:620535
HP:0007477	Abnormal dermatoglyphics	2245	FGD1	ORPHA:915
HP:0007477	Abnormal dermatoglyphics	2245	FGD1	OMIM:305400
HP:0007477	Abnormal dermatoglyphics	10664	CTCF	OMIM:615502
HP:0007477	Abnormal dermatoglyphics	10664	CTCF	ORPHA:363611
HP:0007477	Abnormal dermatoglyphics	27145	FILIP1	OMIM:620775
HP:0007477	Abnormal dermatoglyphics	81603	TRIM8	OMIM:619428
HP:0007477	Abnormal dermatoglyphics	9230	RAB11B	OMIM:617807
HP:0007477	Abnormal dermatoglyphics	55081	IFT57	OMIM:617927
HP:0007477	Abnormal dermatoglyphics	3720	JARID2	OMIM:620098
HP:0007477	Abnormal dermatoglyphics	3479	IGF1	ORPHA:73272
HP:0007477	Abnormal dermatoglyphics	5193	PEX12	OMIM:266510
HP:0007477	Abnormal dermatoglyphics	100151683	RNU4ATAC	OMIM:210710
HP:0007477	Abnormal dermatoglyphics	100151683	RNU4ATAC	OMIM:616651
HP:0007477	Abnormal dermatoglyphics	1798	DPAGT1	OMIM:608093
HP:0007477	Abnormal dermatoglyphics	57122	NUP107	OMIM:618348
HP:0007477	Abnormal dermatoglyphics	6418	SET	OMIM:618106
HP:0007477	Abnormal dermatoglyphics	253738	EBF3	ORPHA:96148
HP:0007477	Abnormal dermatoglyphics	5515	PPP2CA	OMIM:618354
HP:0007477	Abnormal dermatoglyphics	23030	KDM4B	OMIM:619320
HP:0007477	Abnormal dermatoglyphics	473	RERE	OMIM:616975
HP:0007477	Abnormal dermatoglyphics	2902	GRIN1	OMIM:617820
HP:0007477	Abnormal dermatoglyphics	55784	MCTP2	ORPHA:1596
HP:0007477	Abnormal dermatoglyphics	23097	CDK19	OMIM:618916
HP:0007477	Abnormal dermatoglyphics	9126	SMC3	OMIM:610759
HP:0007477	Abnormal dermatoglyphics	4131	MAP1B	OMIM:618918
HP:0007477	Abnormal dermatoglyphics	5530	PPP3CA	OMIM:617711
HP:0007477	Abnormal dermatoglyphics	80746	TSEN2	OMIM:612389
HP:0007477	Abnormal dermatoglyphics	64131	XYLT1	OMIM:615777
HP:0007477	Abnormal dermatoglyphics	9361	LONP1	ORPHA:79243
HP:0007477	Abnormal dermatoglyphics	5160	PDHA1	ORPHA:79243
HP:0007477	Abnormal dermatoglyphics	55764	IFT122	OMIM:218330
HP:0007477	Abnormal dermatoglyphics	8604	SLC25A12	OMIM:612949
HP:0007477	Abnormal dermatoglyphics	9241	NOG	OMIM:186500
HP:0007477	Abnormal dermatoglyphics	22827	PUF60	ORPHA:508488
HP:0007477	Abnormal dermatoglyphics	10943	MSL3	OMIM:301032
HP:0007477	Abnormal dermatoglyphics	3977	LIFR	OMIM:601559
HP:0007477	Abnormal dermatoglyphics	545	ATR	OMIM:210600
HP:0007477	Abnormal dermatoglyphics	57187	THOC2	ORPHA:457240
HP:0007477	Abnormal dermatoglyphics	57572	DOCK6	OMIM:614219
HP:0007477	Abnormal dermatoglyphics	94005	PIGS	OMIM:618143
HP:0007477	Abnormal dermatoglyphics	145173	B3GLCT	OMIM:261540
HP:0007477	Abnormal dermatoglyphics	6711	SPTBN1	OMIM:619475
HP:0007477	Abnormal dermatoglyphics	6938	TCF12	OMIM:615314
HP:0007477	Abnormal dermatoglyphics	92002	CCNQ	OMIM:300707
HP:0007477	Abnormal dermatoglyphics	91461	PKDCC	OMIM:618821
HP:0007477	Abnormal dermatoglyphics	4329	ALDH6A1	OMIM:614105
HP:0007477	Abnormal dermatoglyphics	1457	CSNK2A1	OMIM:617062
HP:0007477	Abnormal dermatoglyphics	7204	TRIO	OMIM:617061
HP:0007477	Abnormal dermatoglyphics	55617	TASP1	OMIM:618950
HP:0007477	Abnormal dermatoglyphics	51305	KCNK9	OMIM:612292
HP:0007477	Abnormal dermatoglyphics	83737	ITCH	OMIM:613385
HP:0007477	Abnormal dermatoglyphics	112752	IFT43	OMIM:617866
HP:0007477	Abnormal dermatoglyphics	9702	CEP57	OMIM:614114
HP:0007477	Abnormal dermatoglyphics	9373	PLAA	ORPHA:521426
HP:0007477	Abnormal dermatoglyphics	9373	PLAA	OMIM:617527
HP:0007477	Abnormal dermatoglyphics	64093	SMOC1	OMIM:206920
HP:0007477	Abnormal dermatoglyphics	7169	TPM2	OMIM:108120
HP:0007477	Abnormal dermatoglyphics	403	ARL3	OMIM:618161
HP:0007477	Abnormal dermatoglyphics	8200	GDF5	OMIM:201250
HP:0007477	Abnormal dermatoglyphics	1748	DLX4	OMIM:616788
HP:0007477	Abnormal dermatoglyphics	1663	DDX11	OMIM:613398
HP:0007477	Abnormal dermatoglyphics	2733	GLE1	OMIM:611890
HP:0007477	Abnormal dermatoglyphics	738	VPS51	OMIM:618606
HP:0007477	Abnormal dermatoglyphics	51594	NBAS	OMIM:614800
HP:0007477	Abnormal dermatoglyphics	23299	BICD2	OMIM:618291
HP:0007477	Abnormal dermatoglyphics	6910	TBX5	OMIM:142900
HP:0007477	Abnormal dermatoglyphics	7543	ZFX	OMIM:301118
HP:0007477	Abnormal dermatoglyphics	523	ATP6V1A	OMIM:617403
HP:0007477	Abnormal dermatoglyphics	7298	TYMS	OMIM:620040
HP:0007477	Abnormal dermatoglyphics	55636	CHD7	OMIM:214800
HP:0007477	Abnormal dermatoglyphics	9968	MED12	ORPHA:2728
HP:0007477	Abnormal dermatoglyphics	54880	BCOR	OMIM:309800
HP:0007477	Abnormal dermatoglyphics	8260	NAA10	OMIM:309800
HP:0007477	Abnormal dermatoglyphics	64840	PORCN	ORPHA:2092
HP:0007477	Abnormal dermatoglyphics	2033	EP300	OMIM:180849
HP:0007477	Abnormal dermatoglyphics	1387	CREBBP	OMIM:180849
HP:0007477	Abnormal dermatoglyphics	23545	ATP6V0A2	ORPHA:2834
HP:0007477	Abnormal dermatoglyphics	113189	CHST14	ORPHA:2953
HP:0007477	Abnormal dermatoglyphics	29940	DSE	ORPHA:2953
HP:0007477	Abnormal dermatoglyphics	26053	AUTS2	OMIM:615834
HP:0007477	Abnormal dermatoglyphics	26053	AUTS2	ORPHA:352490
HP:0007477	Abnormal dermatoglyphics	8985	PLOD3	OMIM:612394
HP:0007477	Abnormal dermatoglyphics	55252	ASXL2	OMIM:617190
HP:0007477	Abnormal dermatoglyphics	8036	SHOC2	OMIM:607721
HP:0007477	Abnormal dermatoglyphics	65082	VPS33A	ORPHA:505248
HP:0007477	Abnormal dermatoglyphics	3190	HNRNPK	OMIM:616580
HP:0007477	Abnormal dermatoglyphics	4052	LTBP1	OMIM:619451
HP:0007477	Abnormal dermatoglyphics	8558	CDK10	OMIM:617694
HP:0007477	Abnormal dermatoglyphics	57479	PRR12	OMIM:619539
HP:0007477	Abnormal dermatoglyphics	673	BRAF	OMIM:115150
HP:0007477	Abnormal dermatoglyphics	673	BRAF	ORPHA:1340
HP:0007477	Abnormal dermatoglyphics	673	BRAF	OMIM:613706
HP:0007477	Abnormal dermatoglyphics	5604	MAP2K1	ORPHA:1340
HP:0007477	Abnormal dermatoglyphics	5605	MAP2K2	ORPHA:1340
HP:0007477	Abnormal dermatoglyphics	83550	GPR101	ORPHA:963
HP:0007477	Abnormal dermatoglyphics	9049	AIP	ORPHA:963
HP:0007477	Abnormal dermatoglyphics	23384	SPECC1L	OMIM:600251
HP:0007477	Abnormal dermatoglyphics	55593	OTUD5	OMIM:301056
HP:0007477	Abnormal dermatoglyphics	283209	PGM2L1	OMIM:620191
HP:0007477	Abnormal dermatoglyphics	79718	TBL1XR1	OMIM:602342
HP:0007477	Abnormal dermatoglyphics	79718	TBL1XR1	ORPHA:487825
HP:0007477	Abnormal dermatoglyphics	171023	ASXL1	OMIM:605039
HP:0007477	Abnormal dermatoglyphics	10651	MTX2	OMIM:619127
HP:0007477	Abnormal dermatoglyphics	80816	ASXL3	OMIM:615485
HP:0007477	Abnormal dermatoglyphics	5277	PIGA	OMIM:300868
HP:0007477	Abnormal dermatoglyphics	1806	DPYD	ORPHA:1675
HP:0007477	Abnormal dermatoglyphics	2475	MTOR	OMIM:616638
HP:0007477	Abnormal dermatoglyphics	526	ATP6V1B2	ORPHA:3473
HP:0007477	Abnormal dermatoglyphics	3756	KCNH1	ORPHA:3473
HP:0007477	Abnormal dermatoglyphics	3782	KCNN3	ORPHA:3473
HP:0007477	Abnormal dermatoglyphics	1308	COL17A1	ORPHA:79406
HP:0007477	Abnormal dermatoglyphics	3861	KRT14	OMIM:161000
HP:0007477	Abnormal dermatoglyphics	3861	KRT14	ORPHA:69087
HP:0007477	Abnormal dermatoglyphics	3861	KRT14	OMIM:125595
HP:0007477	Abnormal dermatoglyphics	8626	TP63	OMIM:103285
HP:0007477	Abnormal dermatoglyphics	2263	FGFR2	ORPHA:1555
HP:0007477	Abnormal dermatoglyphics	11285	B4GALT7	ORPHA:75496
HP:0007477	Abnormal dermatoglyphics	11285	B4GALT7	OMIM:130070
HP:0007477	Abnormal dermatoglyphics	27238	GPKOW	ORPHA:2570
HP:0007477	Abnormal dermatoglyphics	6804	STX1A	ORPHA:904
HP:0007477	Abnormal dermatoglyphics	7461	CLIP2	ORPHA:904
HP:0007477	Abnormal dermatoglyphics	84277	DNAJC30	ORPHA:904
HP:0007477	Abnormal dermatoglyphics	8468	FKBP6	ORPHA:904
HP:0007477	Abnormal dermatoglyphics	5982	RFC2	ORPHA:904
HP:0007477	Abnormal dermatoglyphics	2969	GTF2I	ORPHA:904
HP:0007477	Abnormal dermatoglyphics	3984	LIMK1	ORPHA:904
HP:0007477	Abnormal dermatoglyphics	9569	GTF2IRD1	ORPHA:904
HP:0007477	Abnormal dermatoglyphics	155382	VPS37D	ORPHA:904
HP:0007477	Abnormal dermatoglyphics	155368	METTL27	ORPHA:904
HP:0007477	Abnormal dermatoglyphics	114049	BUD23	ORPHA:904
HP:0007477	Abnormal dermatoglyphics	7458	EIF4H	ORPHA:904
HP:0007477	Abnormal dermatoglyphics	84163	GTF2IRD2	ORPHA:904
HP:0007477	Abnormal dermatoglyphics	26608	TBL2	ORPHA:904
HP:0007477	Abnormal dermatoglyphics	653361	NCF1	ORPHA:904
HP:0007477	Abnormal dermatoglyphics	135886	TMEM270	ORPHA:904
HP:0007477	Abnormal dermatoglyphics	9031	BAZ1B	ORPHA:904
HP:0007477	Abnormal dermatoglyphics	2006	ELN	ORPHA:904
HP:0007477	Abnormal dermatoglyphics	90416	CCDC32	OMIM:619123
HP:0007477	Abnormal dermatoglyphics	8085	KMT2D	ORPHA:2322
HP:0007477	Abnormal dermatoglyphics	7403	KDM6A	ORPHA:2322
HP:0007477	Abnormal dermatoglyphics	1717	DHCR7	ORPHA:818
HP:0007477	Abnormal dermatoglyphics	5818	NECTIN1	ORPHA:3253
HP:0007477	Abnormal dermatoglyphics	4038	LRP4	ORPHA:3258
HP:0007477	Abnormal dermatoglyphics	324	APC	ORPHA:3258
HP:0007477	Abnormal dermatoglyphics	29957	SLC25A24	ORPHA:2963
HP:0007477	Abnormal dermatoglyphics	5925	RB1	ORPHA:1587
HP:0007477	Abnormal dermatoglyphics	22930	RAB3GAP1	ORPHA:1387
HP:0007477	Abnormal dermatoglyphics	25782	RAB3GAP2	ORPHA:1387
HP:0007477	Abnormal dermatoglyphics	55681	SCYL2	ORPHA:1143
HP:0007477	Abnormal dermatoglyphics	84570	COL25A1	ORPHA:1143
HP:0007477	Abnormal dermatoglyphics	57222	ERGIC1	ORPHA:1143
HP:0007477	Abnormal dermatoglyphics	22800	RRAS2	ORPHA:648
HP:0007477	Abnormal dermatoglyphics	867	CBL	ORPHA:648
HP:0007477	Abnormal dermatoglyphics	8216	LZTR1	ORPHA:648
HP:0007477	Abnormal dermatoglyphics	6016	RIT1	ORPHA:648
HP:0007477	Abnormal dermatoglyphics	6237	RRAS	ORPHA:648
HP:0007477	Abnormal dermatoglyphics	5894	RAF1	ORPHA:648
HP:0007477	Abnormal dermatoglyphics	22808	MRAS	ORPHA:648
HP:0007477	Abnormal dermatoglyphics	3845	KRAS	ORPHA:648
HP:0007477	Abnormal dermatoglyphics	200734	SPRED2	ORPHA:648
HP:0007477	Abnormal dermatoglyphics	4893	NRAS	ORPHA:648
HP:0007477	Abnormal dermatoglyphics	6654	SOS1	ORPHA:648
HP:0007477	Abnormal dermatoglyphics	6655	SOS2	ORPHA:648
HP:0007477	Abnormal dermatoglyphics	5781	PTPN11	ORPHA:648
HP:0007477	Abnormal dermatoglyphics	5922	RASA2	ORPHA:648
HP:0007477	Abnormal dermatoglyphics	2138	EYA1	ORPHA:2792
HP:0007477	Abnormal dermatoglyphics	5075	PAX1	ORPHA:2792
HP:0007477	Abnormal dermatoglyphics	3209	HOXA13	ORPHA:2438
HP:0007477	Abnormal dermatoglyphics	1723	DHODH	ORPHA:246
HP:0007477	Abnormal dermatoglyphics	3265	HRAS	ORPHA:3071
HP:0007477	Abnormal dermatoglyphics	9487	PIGL	ORPHA:3474
HP:0007477	Abnormal dermatoglyphics	56916	SMARCAD1	ORPHA:1658
HP:0007477	Abnormal dermatoglyphics	57167	SALL4	ORPHA:2307
HP:0007477	Abnormal dermatoglyphics	7291	TWIST1	ORPHA:794
HP:0007477	Abnormal dermatoglyphics	2261	FGFR3	ORPHA:794
HP:0007477	Abnormal dermatoglyphics	23476	BRD4	ORPHA:199
HP:0007477	Abnormal dermatoglyphics	8243	SMC1A	ORPHA:199
HP:0007477	Abnormal dermatoglyphics	55869	HDAC8	ORPHA:199
HP:0007477	Abnormal dermatoglyphics	5792	PTPRF	OMIM:616001
HP:0007477	Abnormal dermatoglyphics	10908	PNPLA6	ORPHA:2377
HP:0007477	Abnormal dermatoglyphics	9894	TELO2	ORPHA:488642
HP:0007477	Abnormal dermatoglyphics	9759	HDAC4	ORPHA:1001
HP:0007477	Abnormal dermatoglyphics	157570	ESCO2	ORPHA:3103
HP:0007477	Abnormal dermatoglyphics	5184	PEPD	ORPHA:742
HP:0007477	Abnormal dermatoglyphics	2131	EXT1	ORPHA:502
HP:0007477	Abnormal dermatoglyphics	7227	TRPS1	ORPHA:502
HP:0007477	Abnormal dermatoglyphics	283989	TSEN54	ORPHA:2524
HP:0007477	Abnormal dermatoglyphics	116461	TSEN15	ORPHA:2524
HP:0007477	Abnormal dermatoglyphics	79042	TSEN34	ORPHA:2524
HP:0007477	Abnormal dermatoglyphics	51091	SEPSECS	ORPHA:2524
HP:0007477	Abnormal dermatoglyphics	129563	DIS3L2	ORPHA:2849
HP:0007477	Abnormal dermatoglyphics	55670	PEX26	ORPHA:44
HP:0007477	Abnormal dermatoglyphics	5824	PEX19	ORPHA:44
HP:0007477	Abnormal dermatoglyphics	8504	PEX3	ORPHA:44
HP:0007477	Abnormal dermatoglyphics	9409	PEX16	ORPHA:44
HP:0007477	Abnormal dermatoglyphics	8799	PEX11B	ORPHA:44
HP:0007477	Abnormal dermatoglyphics	5194	PEX13	ORPHA:44
HP:0007477	Abnormal dermatoglyphics	5195	PEX14	ORPHA:44
HP:0007477	Abnormal dermatoglyphics	5192	PEX10	ORPHA:44
HP:0007477	Abnormal dermatoglyphics	9469	CHST3	OMIM:143095
HP:0007477	Abnormal dermatoglyphics	7140	TNNT3	ORPHA:1147
HP:0007477	Abnormal dermatoglyphics	4621	MYH3	ORPHA:1147
HP:0007477	Abnormal dermatoglyphics	259232	NALCN	ORPHA:1147
HP:0007477	Abnormal dermatoglyphics	7136	TNNI2	ORPHA:1147
HP:0007477	Abnormal dermatoglyphics	23511	NUP188	OMIM:618804
HP:0007477	Abnormal dermatoglyphics	658	BMPR1B	ORPHA:2639
HP:0007477	Abnormal dermatoglyphics	64359	NXN	ORPHA:1507
HP:0007477	Abnormal dermatoglyphics	10225	CD96	ORPHA:1308
HP:0007477	Abnormal dermatoglyphics	23522	KAT6B	ORPHA:3047
HP:0007477	Abnormal dermatoglyphics	147372	CCBE1	OMIM:235510
HP:0007477	Abnormal dermatoglyphics	9496	TBX4	ORPHA:261279
HP:0007477	Abnormal dermatoglyphics	1801	DPH1	ORPHA:459061
HP:0007477	Abnormal dermatoglyphics	6874	TAF4	OMIM:620450
HP:0007477	Abnormal dermatoglyphics	2254	FGF9	ORPHA:3237
HP:0007477	Abnormal dermatoglyphics	55605	KIF21A	ORPHA:994
HP:0007477	Abnormal dermatoglyphics	4927	NUP88	ORPHA:994
HP:0007477	Abnormal dermatoglyphics	7846	TUBA1A	ORPHA:994
HP:0007477	Abnormal dermatoglyphics	4654	MYOD1	ORPHA:994
HP:0007477	Abnormal dermatoglyphics	54551	MAGEL2	ORPHA:994
HP:0007477	Abnormal dermatoglyphics	4593	MUSK	ORPHA:994
HP:0007477	Abnormal dermatoglyphics	5913	RAPSN	ORPHA:994
HP:0007477	Abnormal dermatoglyphics	6572	SLC18A3	ORPHA:994
HP:0007477	Abnormal dermatoglyphics	285489	DOK7	ORPHA:994
HP:0007477	Abnormal dermatoglyphics	91252	SLC39A13	ORPHA:157965
HP:0007477	Abnormal dermatoglyphics	54101	RIPK4	OMIM:263650
HP:0007477	Abnormal dermatoglyphics	92949	ADAMTSL1	ORPHA:521445
HP:0007477	Abnormal dermatoglyphics	22884	WDR37	OMIM:618652
HP:0007477	Abnormal dermatoglyphics	7750	ZMYM2	OMIM:619522
HP:0007477	Abnormal dermatoglyphics	7528	YY1	ORPHA:506358
HP:0033563	Anti-tissue transglutaminase antibody positivity	326	AIRE	OMIM:240300
HP:0033566	Abnormal ventricular axis	2548	GAA	OMIM:232300
HP:0033566	Abnormal ventricular axis	4625	MYH7	OMIM:255160
HP:0033566	Abnormal ventricular axis	7139	TNNT2	OMIM:612422
HP:0033566	Abnormal ventricular axis	51422	PRKAG2	OMIM:261740
HP:0033566	Abnormal ventricular axis	23129	PLXND1	OMIM:620294
HP:0033567	Right axis deviation	2548	GAA	OMIM:232300
HP:0033567	Right axis deviation	4625	MYH7	OMIM:255160
HP:0012730	Aglossia	5396	PRRX1	OMIM:202650
HP:0025010	Foveal atrophy	57096	RPGRIP1	OMIM:613826
HP:0025010	Foveal atrophy	9364	RAB28	OMIM:615374
HP:0025011	Pyriform aperture stenosis	6469	SHH	OMIM:147250
HP:0025012	Status cribrosum	5654	HTRA1	OMIM:616779
HP:0025013	Decerebrate rigidity	410	ARSA	ORPHA:309271
HP:0025013	Decerebrate rigidity	410	ARSA	ORPHA:309263
HP:0025013	Decerebrate rigidity	410	ARSA	ORPHA:309256
HP:0025013	Decerebrate rigidity	5660	PSAP	ORPHA:309271
HP:0025013	Decerebrate rigidity	5660	PSAP	ORPHA:309263
HP:0025013	Decerebrate rigidity	5660	PSAP	ORPHA:206436
HP:0025013	Decerebrate rigidity	5660	PSAP	ORPHA:309256
HP:0025013	Decerebrate rigidity	2581	GALC	ORPHA:206436
HP:0025013	Decerebrate rigidity	2581	GALC	OMIM:245200
HP:0025013	Decerebrate rigidity	443	ASPA	ORPHA:314911
HP:0025013	Decerebrate rigidity	2720	GLB1	ORPHA:79255
HP:0025014	Subcutaneous spheroids	1277	COL1A1	ORPHA:287
HP:0025014	Subcutaneous spheroids	1289	COL5A1	ORPHA:287
HP:0025014	Subcutaneous spheroids	1289	COL5A1	OMIM:130000
HP:0025014	Subcutaneous spheroids	1290	COL5A2	ORPHA:287
HP:0025014	Subcutaneous spheroids	1290	COL5A2	OMIM:130010
HP:0025015	Abnormal vascular morphology	7450	VWF	OMIM:193400
HP:0025015	Abnormal vascular morphology	5295	PIK3R1	OMIM:269880
HP:0025015	Abnormal vascular morphology	716	C1S	OMIM:617174
HP:0025015	Abnormal vascular morphology	165	AEBP1	OMIM:618000
HP:0025015	Abnormal vascular morphology	92579	G6PC3	OMIM:612541
HP:0025015	Abnormal vascular morphology	8815	BANF1	OMIM:614008
HP:0025015	Abnormal vascular morphology	5468	PPARG	ORPHA:528
HP:0025015	Abnormal vascular morphology	5468	PPARG	OMIM:604367
HP:0025015	Abnormal vascular morphology	10555	AGPAT2	ORPHA:528
HP:0025015	Abnormal vascular morphology	26580	BSCL2	ORPHA:528
HP:0025015	Abnormal vascular morphology	2353	FOS	ORPHA:528
HP:0025015	Abnormal vascular morphology	857	CAV1	ORPHA:528
HP:0025015	Abnormal vascular morphology	25839	COG4	OMIM:618150
HP:0025015	Abnormal vascular morphology	715	C1R	OMIM:130080
HP:0025015	Abnormal vascular morphology	221496	LEMD2	OMIM:619322
HP:0025015	Abnormal vascular morphology	5159	PDGFRB	OMIM:601812
HP:0025015	Abnormal vascular morphology	91252	SLC39A13	OMIM:612350
HP:0025015	Abnormal vascular morphology	529	ATP6V1E1	OMIM:617402
HP:0025015	Abnormal vascular morphology	84919	PPP1R15B	OMIM:616817
HP:0025015	Abnormal vascular morphology	7424	VEGFC	OMIM:615907
HP:0025015	Abnormal vascular morphology	9791	PTDSS1	OMIM:151050
HP:0025015	Abnormal vascular morphology	11128	POLR3A	OMIM:264090
HP:0025015	Abnormal vascular morphology	11128	POLR3A	ORPHA:3455
HP:0025015	Abnormal vascular morphology	8322	FZD4	ORPHA:90050
HP:0025015	Abnormal vascular morphology	4508	MT-ATP6	ORPHA:644
HP:0025015	Abnormal vascular morphology	1312	COMT	ORPHA:567
HP:0025015	Abnormal vascular morphology	221037	JMJD1C	ORPHA:567
HP:0025015	Abnormal vascular morphology	6239	RREB1	ORPHA:567
HP:0025015	Abnormal vascular morphology	7290	HIRA	ORPHA:567
HP:0025015	Abnormal vascular morphology	9632	SEC24C	ORPHA:567
HP:0025015	Abnormal vascular morphology	7353	UFD1	ORPHA:567
HP:0025015	Abnormal vascular morphology	421	ARVCF	ORPHA:567
HP:0025015	Abnormal vascular morphology	4524	MTHFR	ORPHA:395
HP:0025015	Abnormal vascular morphology	4524	MTHFR	OMIM:236250
HP:0025015	Abnormal vascular morphology	7428	VHL	OMIM:263400
HP:0025015	Abnormal vascular morphology	7428	VHL	ORPHA:892
HP:0025015	Abnormal vascular morphology	6331	SCN5A	OMIM:614022
HP:0025015	Abnormal vascular morphology	6331	SCN5A	OMIM:601154
HP:0025015	Abnormal vascular morphology	55503	TRPV6	OMIM:618188
HP:0025015	Abnormal vascular morphology	7148	TNXB	ORPHA:230839
HP:0025015	Abnormal vascular morphology	5009	OTC	OMIM:311250
HP:0025015	Abnormal vascular morphology	4625	MYH7	ORPHA:1880
HP:0025015	Abnormal vascular morphology	2997	GYS1	OMIM:611556
HP:0025015	Abnormal vascular morphology	7174	TPP2	ORPHA:444463
HP:0025015	Abnormal vascular morphology	2908	NR3C1	ORPHA:786
HP:0025015	Abnormal vascular morphology	2908	NR3C1	ORPHA:96253
HP:0025015	Abnormal vascular morphology	9342	SNAP29	ORPHA:66631
HP:0025015	Abnormal vascular morphology	10560	SLC19A2	ORPHA:49827
HP:0025015	Abnormal vascular morphology	10560	SLC19A2	OMIM:249270
HP:0025015	Abnormal vascular morphology	11093	ADAMTS13	OMIM:274150
HP:0025015	Abnormal vascular morphology	50940	PDE11A	ORPHA:1359
HP:0025015	Abnormal vascular morphology	84196	USP48	ORPHA:96253
HP:0025015	Abnormal vascular morphology	9101	USP8	ORPHA:96253
HP:0025015	Abnormal vascular morphology	64072	CDH23	ORPHA:96253
HP:0025015	Abnormal vascular morphology	546	ATRX	ORPHA:96253
HP:0025015	Abnormal vascular morphology	3043	HBB	OMIM:603903
HP:0025015	Abnormal vascular morphology	9149	DYRK1B	OMIM:615812
HP:0025015	Abnormal vascular morphology	4629	MYH11	OMIM:132900
HP:0025015	Abnormal vascular morphology	4629	MYH11	ORPHA:229
HP:0025015	Abnormal vascular morphology	4629	MYH11	ORPHA:91387
HP:0025015	Abnormal vascular morphology	5346	PLIN1	OMIM:613877
HP:0025015	Abnormal vascular morphology	55107	ANO1	OMIM:620687
HP:0025015	Abnormal vascular morphology	2717	GLA	ORPHA:324
HP:0025015	Abnormal vascular morphology	128989	TANGO2	ORPHA:480864
HP:0025015	Abnormal vascular morphology	5277	PIGA	ORPHA:447
HP:0025015	Abnormal vascular morphology	3291	HSD11B2	ORPHA:320
HP:0025015	Abnormal vascular morphology	2318	FLNC	OMIM:617047
HP:0025015	Abnormal vascular morphology	2318	FLNC	ORPHA:75249
HP:0025015	Abnormal vascular morphology	4204	MECP2	ORPHA:3077
HP:0025015	Abnormal vascular morphology	4763	NF1	ORPHA:97685
HP:0025015	Abnormal vascular morphology	10370	CITED2	ORPHA:99105
HP:0025015	Abnormal vascular morphology	10370	CITED2	ORPHA:99103
HP:0025015	Abnormal vascular morphology	1471	CST3	OMIM:105150
HP:0025015	Abnormal vascular morphology	1471	CST3	ORPHA:100008
HP:0025015	Abnormal vascular morphology	7092	TLL1	ORPHA:99103
HP:0025015	Abnormal vascular morphology	57057	TBX20	ORPHA:99103
HP:0025015	Abnormal vascular morphology	4624	MYH6	ORPHA:99103
HP:0025015	Abnormal vascular morphology	1482	NKX2-5	ORPHA:99103
HP:0025015	Abnormal vascular morphology	70	ACTC1	ORPHA:99103
HP:0025015	Abnormal vascular morphology	2626	GATA4	ORPHA:99103
HP:0025015	Abnormal vascular morphology	2627	GATA6	ORPHA:99103
HP:0025015	Abnormal vascular morphology	4607	MYBPC3	OMIM:115197
HP:0025015	Abnormal vascular morphology	84665	MYPN	ORPHA:75249
HP:0025015	Abnormal vascular morphology	7139	TNNT2	ORPHA:75249
HP:0025015	Abnormal vascular morphology	7137	TNNI3	ORPHA:75249
HP:0025015	Abnormal vascular morphology	10112	KIF20A	ORPHA:75249
HP:0025015	Abnormal vascular morphology	83605	CCM2	OMIM:603284
HP:0025015	Abnormal vascular morphology	189	AGXT	ORPHA:93598
HP:0025015	Abnormal vascular morphology	10269	ZMPSTE24	ORPHA:740
HP:0025015	Abnormal vascular morphology	2316	FLNA	OMIM:300049
HP:0025015	Abnormal vascular morphology	64131	XYLT1	OMIM:264800
HP:0025015	Abnormal vascular morphology	64132	XYLT2	OMIM:264800
HP:0025015	Abnormal vascular morphology	80206	FHOD3	OMIM:619402
HP:0025015	Abnormal vascular morphology	50485	SMARCAL1	ORPHA:1830
HP:0025015	Abnormal vascular morphology	50485	SMARCAL1	OMIM:242900
HP:0025015	Abnormal vascular morphology	7276	TTR	ORPHA:85451
HP:0025015	Abnormal vascular morphology	182	JAG1	OMIM:118450
HP:0025015	Abnormal vascular morphology	28976	ACAD9	OMIM:611126
HP:0025015	Abnormal vascular morphology	51085	MLXIPL	OMIM:194050
HP:0025015	Abnormal vascular morphology	595	CCND1	ORPHA:892
HP:0025015	Abnormal vascular morphology	126792	B3GALT6	ORPHA:536467
HP:0025015	Abnormal vascular morphology	2147	F2	OMIM:601367
HP:0025015	Abnormal vascular morphology	4846	NOS3	OMIM:601367
HP:0025015	Abnormal vascular morphology	5583	PRKCH	OMIM:601367
HP:0025015	Abnormal vascular morphology	2153	F5	OMIM:601367
HP:0025015	Abnormal vascular morphology	241	ALOX5AP	OMIM:601367
HP:0025015	Abnormal vascular morphology	727676	SNORD118	ORPHA:542310
HP:0025015	Abnormal vascular morphology	162417	NAGS	ORPHA:927
HP:0025015	Abnormal vascular morphology	25974	MMACHC	ORPHA:79282
HP:0025015	Abnormal vascular morphology	445	ASS1	OMIM:215700
HP:0025015	Abnormal vascular morphology	5286	PIK3C2A	ORPHA:557003
HP:0025015	Abnormal vascular morphology	4860	PNP	ORPHA:760
HP:0025015	Abnormal vascular morphology	1373	CPS1	OMIM:237300
HP:0025015	Abnormal vascular morphology	7535	ZAP70	ORPHA:911
HP:0025015	Abnormal vascular morphology	4015	LOX	ORPHA:91387
HP:0025015	Abnormal vascular morphology	2200	FBN1	ORPHA:91387
HP:0025015	Abnormal vascular morphology	5592	PRKG1	ORPHA:91387
HP:0025015	Abnormal vascular morphology	2301	FOXE3	ORPHA:91387
HP:0025015	Abnormal vascular morphology	4144	MAT2A	ORPHA:91387
HP:0025015	Abnormal vascular morphology	23493	HEY2	ORPHA:91387
HP:0025015	Abnormal vascular morphology	8076	MFAP5	ORPHA:91387
HP:0025015	Abnormal vascular morphology	4638	MYLK	ORPHA:91387
HP:0025015	Abnormal vascular morphology	79875	THSD4	ORPHA:91387
HP:0025015	Abnormal vascular morphology	4594	MMUT	ORPHA:79312
HP:0025015	Abnormal vascular morphology	25978	CHMP2B	ORPHA:100070
HP:0025015	Abnormal vascular morphology	5663	PSEN1	ORPHA:100070
HP:0025015	Abnormal vascular morphology	2896	GRN	ORPHA:100070
HP:0025015	Abnormal vascular morphology	54664	TMEM106B	ORPHA:100070
HP:0025015	Abnormal vascular morphology	4137	MAPT	ORPHA:100070
HP:0025015	Abnormal vascular morphology	54209	TREM2	ORPHA:100070
HP:0025015	Abnormal vascular morphology	7415	VCP	ORPHA:100070
HP:0025015	Abnormal vascular morphology	2057	EPOR	OMIM:133100
HP:0025015	Abnormal vascular morphology	55654	TMEM127	OMIM:171300
HP:0025015	Abnormal vascular morphology	55654	TMEM127	ORPHA:29072
HP:0025015	Abnormal vascular morphology	4149	MAX	OMIM:171300
HP:0025015	Abnormal vascular morphology	4149	MAX	ORPHA:29072
HP:0025015	Abnormal vascular morphology	5979	RET	OMIM:171300
HP:0025015	Abnormal vascular morphology	5979	RET	ORPHA:29072
HP:0025015	Abnormal vascular morphology	5979	RET	ORPHA:276621
HP:0025015	Abnormal vascular morphology	1743	DLST	ORPHA:29072
HP:0025015	Abnormal vascular morphology	4191	MDH2	ORPHA:29072
HP:0025015	Abnormal vascular morphology	6389	SDHA	ORPHA:29072
HP:0025015	Abnormal vascular morphology	23095	KIF1B	ORPHA:29072
HP:0025015	Abnormal vascular morphology	2271	FH	ORPHA:29072
HP:0025015	Abnormal vascular morphology	8402	SLC25A11	ORPHA:29072
HP:0025015	Abnormal vascular morphology	54949	SDHAF2	ORPHA:29072
HP:0025015	Abnormal vascular morphology	6391	SDHC	ORPHA:29072
HP:0025015	Abnormal vascular morphology	6392	SDHD	ORPHA:29072
HP:0025015	Abnormal vascular morphology	6392	SDHD	ORPHA:276621
HP:0025015	Abnormal vascular morphology	6390	SDHB	ORPHA:29072
HP:0025015	Abnormal vascular morphology	6390	SDHB	ORPHA:276621
HP:0025015	Abnormal vascular morphology	8314	BAP1	ORPHA:2495
HP:0025015	Abnormal vascular morphology	4771	NF2	ORPHA:2495
HP:0025015	Abnormal vascular morphology	6598	SMARCB1	ORPHA:2495
HP:0025015	Abnormal vascular morphology	5155	PDGFB	ORPHA:2495
HP:0025015	Abnormal vascular morphology	84231	TRAF7	ORPHA:2495
HP:0025015	Abnormal vascular morphology	6608	SMO	ORPHA:2495
HP:0025015	Abnormal vascular morphology	7015	TERT	ORPHA:2495
HP:0025015	Abnormal vascular morphology	51684	SUFU	ORPHA:2495
HP:0025015	Abnormal vascular morphology	6605	SMARCE1	ORPHA:2495
HP:0025015	Abnormal vascular morphology	8517	IKBKG	OMIM:301081
HP:0025015	Abnormal vascular morphology	3032	HADHB	OMIM:620300
HP:0025015	Abnormal vascular morphology	2335	FN1	ORPHA:84090
HP:0025015	Abnormal vascular morphology	2243	FGA	ORPHA:98880
HP:0025015	Abnormal vascular morphology	2244	FGB	ORPHA:98880
HP:0025015	Abnormal vascular morphology	2266	FGG	ORPHA:98880
HP:0025015	Abnormal vascular morphology	3075	CFH	ORPHA:244242
HP:0025015	Abnormal vascular morphology	4179	CD46	ORPHA:244242
HP:0025015	Abnormal vascular morphology	101101692	HELLPAR	ORPHA:244242
HP:0025015	Abnormal vascular morphology	58	ACTA1	OMIM:620278
HP:0025015	Abnormal vascular morphology	2165	F13B	ORPHA:331
HP:0025015	Abnormal vascular morphology	442721	LMOD2	OMIM:619897
HP:0025015	Abnormal vascular morphology	11274	USP18	OMIM:617397
HP:0025015	Abnormal vascular morphology	6773	STAT2	OMIM:618886
HP:0025015	Abnormal vascular morphology	1788	DNMT3A	ORPHA:276621
HP:0025015	Abnormal vascular morphology	2034	EPAS1	ORPHA:276621
HP:0025015	Abnormal vascular morphology	9103	FCGR2C	ORPHA:3002
HP:0025015	Abnormal vascular morphology	2582	GALE	OMIM:620776
HP:0025015	Abnormal vascular morphology	5885	RAD21	OMIM:614701
HP:0025015	Abnormal vascular morphology	7355	SLC35A2	ORPHA:356961
HP:0025015	Abnormal vascular morphology	23414	ZFPM2	ORPHA:3303
HP:0025015	Abnormal vascular morphology	23414	ZFPM2	OMIM:187500
HP:0025015	Abnormal vascular morphology	3791	KDR	ORPHA:3303
HP:0025015	Abnormal vascular morphology	8443	GNPAT	OMIM:222765
HP:0025015	Abnormal vascular morphology	26275	HIBCH	ORPHA:88639
HP:0025015	Abnormal vascular morphology	26275	HIBCH	OMIM:250620
HP:0025015	Abnormal vascular morphology	29998	BICRA	OMIM:619325
HP:0025015	Abnormal vascular morphology	83479	DDX59	OMIM:174300
HP:0025015	Abnormal vascular morphology	83479	DDX59	ORPHA:2919
HP:0025015	Abnormal vascular morphology	1147	CHUK	OMIM:613630
HP:0025015	Abnormal vascular morphology	7852	CXCR4	ORPHA:51636
HP:0025015	Abnormal vascular morphology	8092	ALX1	ORPHA:306542
HP:0025015	Abnormal vascular morphology	3579	CXCR2	OMIM:619407
HP:0025015	Abnormal vascular morphology	2542	SLC37A4	OMIM:619525
HP:0025015	Abnormal vascular morphology	9897	WASHC5	OMIM:220210
HP:0025015	Abnormal vascular morphology	9897	WASHC5	ORPHA:7
HP:0025015	Abnormal vascular morphology	10084	PQBP1	OMIM:309500
HP:0025015	Abnormal vascular morphology	1663	DDX11	OMIM:613398
HP:0025015	Abnormal vascular morphology	57020	VPS35L	ORPHA:7
HP:0025015	Abnormal vascular morphology	56896	DPYSL5	ORPHA:7
HP:0025015	Abnormal vascular morphology	257	ALX3	OMIM:136760
HP:0025015	Abnormal vascular morphology	27152	INTU	OMIM:617925
HP:0025015	Abnormal vascular morphology	27152	INTU	OMIM:617926
HP:0025015	Abnormal vascular morphology	1718	DHCR24	OMIM:602398
HP:0025015	Abnormal vascular morphology	1718	DHCR24	ORPHA:35107
HP:0025015	Abnormal vascular morphology	26235	FBXL4	OMIM:615471
HP:0025015	Abnormal vascular morphology	51126	NAA20	OMIM:619717
HP:0025015	Abnormal vascular morphology	7021	TFAP2B	OMIM:169100
HP:0025015	Abnormal vascular morphology	7021	TFAP2B	ORPHA:46627
HP:0025015	Abnormal vascular morphology	7021	TFAP2B	OMIM:617035
HP:0025015	Abnormal vascular morphology	1131	CHRM3	ORPHA:2970
HP:0025015	Abnormal vascular morphology	1131	CHRM3	OMIM:100100
HP:0025015	Abnormal vascular morphology	9578	CDC42BPB	OMIM:619841
HP:0025015	Abnormal vascular morphology	8942	KYNU	OMIM:617661
HP:0025015	Abnormal vascular morphology	55790	CSGALNACT1	OMIM:618870
HP:0025015	Abnormal vascular morphology	65082	VPS33A	OMIM:617303
HP:0025015	Abnormal vascular morphology	65082	VPS33A	ORPHA:505248
HP:0025015	Abnormal vascular morphology	55690	PACS1	OMIM:615009
HP:0025015	Abnormal vascular morphology	55690	PACS1	ORPHA:329224
HP:0025015	Abnormal vascular morphology	9200	HACD1	OMIM:619967
HP:0025015	Abnormal vascular morphology	23384	SPECC1L	ORPHA:1519
HP:0025015	Abnormal vascular morphology	3764	KCNJ8	ORPHA:1517
HP:0025015	Abnormal vascular morphology	10060	ABCC9	ORPHA:1517
HP:0025015	Abnormal vascular morphology	10060	ABCC9	OMIM:239850
HP:0025015	Abnormal vascular morphology	9723	SEMA3E	ORPHA:138
HP:0025015	Abnormal vascular morphology	57231	SNX14	ORPHA:397709
HP:0025015	Abnormal vascular morphology	5189	PEX1	OMIM:214100
HP:0025015	Abnormal vascular morphology	54880	BCOR	ORPHA:2712
HP:0025015	Abnormal vascular morphology	54880	BCOR	OMIM:300166
HP:0025015	Abnormal vascular morphology	4853	NOTCH2	OMIM:102500
HP:0025015	Abnormal vascular morphology	4853	NOTCH2	ORPHA:955
HP:0025015	Abnormal vascular morphology	2261	FGFR3	ORPHA:1860
HP:0025015	Abnormal vascular morphology	2261	FGFR3	ORPHA:93274
HP:0025015	Abnormal vascular morphology	2261	FGFR3	ORPHA:2363
HP:0025015	Abnormal vascular morphology	7994	KAT6A	ORPHA:457193
HP:0025015	Abnormal vascular morphology	7994	KAT6A	OMIM:616268
HP:0025015	Abnormal vascular morphology	8726	EED	OMIM:617561
HP:0025015	Abnormal vascular morphology	203286	ANKS6	OMIM:615382
HP:0025015	Abnormal vascular morphology	22884	WDR37	OMIM:618652
HP:0025015	Abnormal vascular morphology	57178	ZMIZ1	OMIM:618659
HP:0025015	Abnormal vascular morphology	8550	MAPKAPK5	OMIM:619869
HP:0025015	Abnormal vascular morphology	5950	RBP4	OMIM:615147
HP:0025015	Abnormal vascular morphology	11193	WBP4	OMIM:620852
HP:0025015	Abnormal vascular morphology	3782	KCNN3	OMIM:618658
HP:0025015	Abnormal vascular morphology	2296	FOXC1	OMIM:602482
HP:0025015	Abnormal vascular morphology	81794	ADAMTS10	OMIM:277600
HP:0025015	Abnormal vascular morphology	81794	ADAMTS10	ORPHA:3449
HP:0025015	Abnormal vascular morphology	3476	IGBP1	ORPHA:52055
HP:0025015	Abnormal vascular morphology	3476	IGBP1	OMIM:300472
HP:0025015	Abnormal vascular morphology	51604	PIGT	OMIM:615398
HP:0025015	Abnormal vascular morphology	51604	PIGT	ORPHA:369837
HP:0025015	Abnormal vascular morphology	23126	POGZ	OMIM:616364
HP:0025015	Abnormal vascular morphology	213	ALB	OMIM:616000
HP:0025015	Abnormal vascular morphology	3481	IGF2	OMIM:616489
HP:0025015	Abnormal vascular morphology	27125	AFF4	OMIM:616368
HP:0025015	Abnormal vascular morphology	27125	AFF4	ORPHA:444077
HP:0025015	Abnormal vascular morphology	57863	CADM3	OMIM:619519
HP:0025015	Abnormal vascular morphology	5590	PRKCZ	ORPHA:1606
HP:0025015	Abnormal vascular morphology	2563	GABRD	ORPHA:1606
HP:0025015	Abnormal vascular morphology	23013	SPEN	ORPHA:1606
HP:0025015	Abnormal vascular morphology	8510	MMP23B	ORPHA:1606
HP:0025015	Abnormal vascular morphology	7798	LUZP1	ORPHA:1606
HP:0025015	Abnormal vascular morphology	10630	PDPN	ORPHA:1606
HP:0025015	Abnormal vascular morphology	3339	HSPG2	ORPHA:1606
HP:0025015	Abnormal vascular morphology	10277	UBE4B	ORPHA:1606
HP:0025015	Abnormal vascular morphology	8514	KCNAB2	ORPHA:1606
HP:0025015	Abnormal vascular morphology	473	RERE	ORPHA:1606
HP:0025015	Abnormal vascular morphology	473	RERE	OMIM:616975
HP:0025015	Abnormal vascular morphology	63976	PRDM16	ORPHA:1606
HP:0025015	Abnormal vascular morphology	54897	CASZ1	ORPHA:1606
HP:0025015	Abnormal vascular morphology	286	ANK1	ORPHA:251066
HP:0025015	Abnormal vascular morphology	415	ARSL	ORPHA:79345
HP:0025015	Abnormal vascular morphology	1859	DYRK1A	ORPHA:464311
HP:0025015	Abnormal vascular morphology	1859	DYRK1A	OMIM:614104
HP:0025015	Abnormal vascular morphology	4247	MGAT2	ORPHA:79329
HP:0025015	Abnormal vascular morphology	7750	ZMYM2	OMIM:619522
HP:0025015	Abnormal vascular morphology	9772	TMEM94	OMIM:618316
HP:0025015	Abnormal vascular morphology	79971	WLS	OMIM:619648
HP:0025015	Abnormal vascular morphology	51341	ZBTB7A	OMIM:619769
HP:0025015	Abnormal vascular morphology	775	CACNA1C	OMIM:601005
HP:0025015	Abnormal vascular morphology	79989	IFT56	OMIM:619534
HP:0025015	Abnormal vascular morphology	25836	NIPBL	OMIM:122470
HP:0025015	Abnormal vascular morphology	85459	CEP295	OMIM:620767
HP:0025015	Abnormal vascular morphology	79087	ALG12	ORPHA:79324
HP:0025015	Abnormal vascular morphology	79087	ALG12	OMIM:607143
HP:0025015	Abnormal vascular morphology	51117	COQ4	OMIM:616276
HP:0025015	Abnormal vascular morphology	1523	CUX1	OMIM:618330
HP:0025015	Abnormal vascular morphology	27429	HTRA2	OMIM:617248
HP:0025015	Abnormal vascular morphology	5062	PAK2	OMIM:618458
HP:0025015	Abnormal vascular morphology	5062	PAK2	ORPHA:1571
HP:0025015	Abnormal vascular morphology	5908	RAP1B	OMIM:620654
HP:0025015	Abnormal vascular morphology	9949	AMMECR1	OMIM:300990
HP:0025015	Abnormal vascular morphology	9949	AMMECR1	ORPHA:86818
HP:0025015	Abnormal vascular morphology	6909	TBX2	OMIM:618223
HP:0025015	Abnormal vascular morphology	6885	MAP3K7	OMIM:617137
HP:0025015	Abnormal vascular morphology	253738	EBF3	ORPHA:96148
HP:0025015	Abnormal vascular morphology	10102	TSFM	OMIM:610505
HP:0025015	Abnormal vascular morphology	7372	UMPS	ORPHA:30
HP:0025015	Abnormal vascular morphology	8312	AXIN1	OMIM:620558
HP:0025015	Abnormal vascular morphology	9126	SMC3	OMIM:610759
HP:0025015	Abnormal vascular morphology	79068	FTO	OMIM:612938
HP:0025015	Abnormal vascular morphology	8626	TP63	OMIM:106260
HP:0025015	Abnormal vascular morphology	170302	ARX	ORPHA:452
HP:0025015	Abnormal vascular morphology	4784	NFIX	OMIM:602535
HP:0025015	Abnormal vascular morphology	2530	FUT8	OMIM:618005
HP:0025015	Abnormal vascular morphology	3756	KCNH1	OMIM:135500
HP:0025015	Abnormal vascular morphology	8260	NAA10	OMIM:300855
HP:0025015	Abnormal vascular morphology	93166	PRDM6	OMIM:617039
HP:0025015	Abnormal vascular morphology	400569	MED11	OMIM:620327
HP:0025015	Abnormal vascular morphology	27031	NPHP3	OMIM:267010
HP:0025015	Abnormal vascular morphology	27031	NPHP3	OMIM:208540
HP:0025015	Abnormal vascular morphology	9496	TBX4	ORPHA:261279
HP:0025015	Abnormal vascular morphology	1760	DMPK	ORPHA:589821
HP:0025015	Abnormal vascular morphology	4613	MYCN	OMIM:164280
HP:0025015	Abnormal vascular morphology	4613	MYCN	ORPHA:391641
HP:0025015	Abnormal vascular morphology	51715	RAB23	ORPHA:65759
HP:0025015	Abnormal vascular morphology	51715	RAB23	OMIM:201000
HP:0025015	Abnormal vascular morphology	1954	MEGF8	ORPHA:65759
HP:0025015	Abnormal vascular morphology	1954	MEGF8	OMIM:614976
HP:0025015	Abnormal vascular morphology	4990	SIX6	OMIM:206900
HP:0025015	Abnormal vascular morphology	6657	SOX2	OMIM:206900
HP:0025015	Abnormal vascular morphology	6657	SOX2	ORPHA:77298
HP:0025015	Abnormal vascular morphology	1974	EIF4A2	OMIM:620455
HP:0025015	Abnormal vascular morphology	164781	DAW1	OMIM:620570
HP:0025015	Abnormal vascular morphology	9321	TRIP11	ORPHA:166272
HP:0025015	Abnormal vascular morphology	57003	CCDC47	OMIM:618268
HP:0025015	Abnormal vascular morphology	57061	HYMAI	ORPHA:96191
HP:0025015	Abnormal vascular morphology	5325	PLAGL1	ORPHA:96191
HP:0025015	Abnormal vascular morphology	64840	PORCN	ORPHA:2092
HP:0025015	Abnormal vascular morphology	348180	CTU2	OMIM:618142
HP:0025015	Abnormal vascular morphology	26005	C2CD3	ORPHA:434179
HP:0025015	Abnormal vascular morphology	26005	C2CD3	OMIM:615948
HP:0025015	Abnormal vascular morphology	3248	HPGD	OMIM:259100
HP:0025015	Abnormal vascular morphology	84172	POLR1B	ORPHA:861
HP:0025015	Abnormal vascular morphology	9533	POLR1C	ORPHA:861
HP:0025015	Abnormal vascular morphology	51082	POLR1D	ORPHA:861
HP:0025015	Abnormal vascular morphology	6949	TCOF1	ORPHA:861
HP:0025015	Abnormal vascular morphology	7204	TRIO	OMIM:617061
HP:0025015	Abnormal vascular morphology	2077	ERF	OMIM:617180
HP:0025015	Abnormal vascular morphology	374879	ZNF699	OMIM:619488
HP:0025015	Abnormal vascular morphology	4841	NONO	OMIM:300967
HP:0025015	Abnormal vascular morphology	4841	NONO	ORPHA:466791
HP:0025015	Abnormal vascular morphology	8239	USP9X	OMIM:300968
HP:0025015	Abnormal vascular morphology	8239	USP9X	ORPHA:480880
HP:0025015	Abnormal vascular morphology	28952	CCDC22	OMIM:300963
HP:0025015	Abnormal vascular morphology	6299	SALL1	ORPHA:857
HP:0025015	Abnormal vascular morphology	51339	DACT1	ORPHA:857
HP:0025015	Abnormal vascular morphology	118924	FRA10AC1	OMIM:620113
HP:0025015	Abnormal vascular morphology	745	MYRF	OMIM:618280
HP:0025015	Abnormal vascular morphology	23387	SIK3	OMIM:618162
HP:0025015	Abnormal vascular morphology	6748	SSR4	ORPHA:370927
HP:0025015	Abnormal vascular morphology	89970	RSPRY1	ORPHA:457395
HP:0025015	Abnormal vascular morphology	5557	PRIM1	OMIM:620005
HP:0025015	Abnormal vascular morphology	23522	KAT6B	ORPHA:3047
HP:0025015	Abnormal vascular morphology	27161	AGO2	OMIM:619149
HP:0025015	Abnormal vascular morphology	9652	SKIC3	ORPHA:84064
HP:0025015	Abnormal vascular morphology	6499	SKIC2	ORPHA:84064
HP:0025015	Abnormal vascular morphology	10262	SF3B4	OMIM:154400
HP:0025015	Abnormal vascular morphology	57539	WDR35	OMIM:613610
HP:0025015	Abnormal vascular morphology	8496	PPFIBP1	OMIM:620024
HP:0025015	Abnormal vascular morphology	51506	UFC1	OMIM:618076
HP:0025015	Abnormal vascular morphology	6812	STXBP1	ORPHA:495818
HP:0025015	Abnormal vascular morphology	10225	CD96	OMIM:211750
HP:0025015	Abnormal vascular morphology	57492	ARID1B	OMIM:135900
HP:0025015	Abnormal vascular morphology	57492	ARID1B	ORPHA:1465
HP:0025015	Abnormal vascular morphology	1889	ECE1	OMIM:613870
HP:0025015	Abnormal vascular morphology	6597	SMARCA4	OMIM:614609
HP:0025015	Abnormal vascular morphology	6597	SMARCA4	ORPHA:1465
HP:0025015	Abnormal vascular morphology	132158	GLYCTK	OMIM:220120
HP:0025015	Abnormal vascular morphology	55148	UBR7	OMIM:619189
HP:0025015	Abnormal vascular morphology	51021	MRPS16	OMIM:610498
HP:0025015	Abnormal vascular morphology	657	BMPR1A	ORPHA:79076
HP:0025015	Abnormal vascular morphology	79053	ALG8	OMIM:608104
HP:0025015	Abnormal vascular morphology	26227	PHGDH	OMIM:256520
HP:0025015	Abnormal vascular morphology	54499	TMCO1	OMIM:213980
HP:0025015	Abnormal vascular morphology	23137	SMC5	OMIM:620185
HP:0025015	Abnormal vascular morphology	79228	THOC6	ORPHA:363444
HP:0025015	Abnormal vascular morphology	79228	THOC6	OMIM:613680
HP:0025015	Abnormal vascular morphology	4094	MAF	ORPHA:1272
HP:0025015	Abnormal vascular morphology	2697	GJA1	ORPHA:2248
HP:0025015	Abnormal vascular morphology	2255	FGF10	ORPHA:2363
HP:0025015	Abnormal vascular morphology	8813	DPM1	OMIM:608799
HP:0025015	Abnormal vascular morphology	170691	ADAMTS17	ORPHA:3449
HP:0025015	Abnormal vascular morphology	4053	LTBP2	ORPHA:3449
HP:0025015	Abnormal vascular morphology	2146	EZH2	OMIM:277590
HP:0025015	Abnormal vascular morphology	5824	PEX19	OMIM:614886
HP:0025015	Abnormal vascular morphology	8195	MKKS	ORPHA:2473
HP:0025015	Abnormal vascular morphology	157570	ESCO2	OMIM:268300
HP:0025015	Abnormal vascular morphology	2719	GPC3	OMIM:312870
HP:0025015	Abnormal vascular morphology	2239	GPC4	OMIM:312870
HP:0025015	Abnormal vascular morphology	11020	IFT27	OMIM:615996
HP:0025015	Abnormal vascular morphology	5648	MASP1	OMIM:257920
HP:0025015	Abnormal vascular morphology	85358	SHANK3	OMIM:606232
HP:0025015	Abnormal vascular morphology	1837	DTNA	OMIM:604169
HP:0025015	Abnormal vascular morphology	113179	ADAT3	ORPHA:363528
HP:0025015	Abnormal vascular morphology	998	CDC42	OMIM:616737
HP:0025015	Abnormal vascular morphology	998	CDC42	ORPHA:487796
HP:0025015	Abnormal vascular morphology	4297	KMT2A	OMIM:605130
HP:0025015	Abnormal vascular morphology	388753	COA6	OMIM:616501
HP:0025015	Abnormal vascular morphology	6659	SOX4	ORPHA:1465
HP:0025015	Abnormal vascular morphology	8289	ARID1A	ORPHA:1465
HP:0025015	Abnormal vascular morphology	5977	DPF2	ORPHA:1465
HP:0025015	Abnormal vascular morphology	6601	SMARCC2	ORPHA:1465
HP:0025015	Abnormal vascular morphology	6602	SMARCD1	ORPHA:1465
HP:0025015	Abnormal vascular morphology	196528	ARID2	ORPHA:1465
HP:0025015	Abnormal vascular morphology	6664	SOX11	ORPHA:1465
HP:0025015	Abnormal vascular morphology	51008	ASCC1	OMIM:616867
HP:0025015	Abnormal vascular morphology	9325	TRIP4	OMIM:616866
HP:0025015	Abnormal vascular morphology	57511	COG6	OMIM:614576
HP:0025015	Abnormal vascular morphology	80781	COL18A1	ORPHA:1571
HP:0025015	Abnormal vascular morphology	80781	COL18A1	OMIM:267750
HP:0025015	Abnormal vascular morphology	6638	SNRPN	ORPHA:177907
HP:0025015	Abnormal vascular morphology	59336	PRDM13	OMIM:619909
HP:0025015	Abnormal vascular morphology	6628	SNRPB	OMIM:117650
HP:0025015	Abnormal vascular morphology	23630	KCNE5	ORPHA:86818
HP:0025015	Abnormal vascular morphology	2182	ACSL4	ORPHA:86818
HP:0025015	Abnormal vascular morphology	1857	DVL3	OMIM:616894
HP:0025015	Abnormal vascular morphology	7291	TWIST1	OMIM:617746
HP:0025015	Abnormal vascular morphology	100506658	OCLN	OMIM:251290
HP:0025015	Abnormal vascular morphology	93649	MYOCD	OMIM:618719
HP:0025015	Abnormal vascular morphology	5331	PLCB3	OMIM:618961
HP:0025015	Abnormal vascular morphology	153241	CEP120	OMIM:616300
HP:0025015	Abnormal vascular morphology	5879	RAC1	OMIM:617751
HP:0025015	Abnormal vascular morphology	5879	RAC1	ORPHA:500159
HP:0025015	Abnormal vascular morphology	5718	PSMD12	OMIM:617516
HP:0025015	Abnormal vascular morphology	55191	NADSYN1	OMIM:618845
HP:0025015	Abnormal vascular morphology	9757	KMT2B	OMIM:619934
HP:0025015	Abnormal vascular morphology	84148	KAT8	OMIM:618974
HP:0025015	Abnormal vascular morphology	83871	RAB34	OMIM:620718
HP:0025015	Abnormal vascular morphology	54916	TMEM260	OMIM:617478
HP:0025015	Abnormal vascular morphology	284086	NEK8	OMIM:615415
HP:0025015	Abnormal vascular morphology	3708	ITPR1	OMIM:206700
HP:0025015	Abnormal vascular morphology	650	BMP2	OMIM:617877
HP:0025015	Abnormal vascular morphology	9487	PIGL	OMIM:280000
HP:0025015	Abnormal vascular morphology	9487	PIGL	ORPHA:3474
HP:0025015	Abnormal vascular morphology	93	ACVR2B	OMIM:613751
HP:0025015	Abnormal vascular morphology	23389	MED13L	OMIM:616789
HP:0025015	Abnormal vascular morphology	2218	FKTN	OMIM:253800
HP:0025015	Abnormal vascular morphology	118856	MMP21	OMIM:616749
HP:0025015	Abnormal vascular morphology	54870	QRICH1	OMIM:617982
HP:0025015	Abnormal vascular morphology	220136	CFAP53	OMIM:614779
HP:0025015	Abnormal vascular morphology	55997	CFC1	OMIM:605376
HP:0025015	Abnormal vascular morphology	63036	CELA2A	OMIM:618620
HP:0025015	Abnormal vascular morphology	336	APOA2	OMIM:143890
HP:0025015	Abnormal vascular morphology	2053	EPHX2	OMIM:143890
HP:0025015	Abnormal vascular morphology	10842	PPP1R17	OMIM:143890
HP:0025015	Abnormal vascular morphology	2690	GHR	OMIM:143890
HP:0025015	Abnormal vascular morphology	2099	ESR1	ORPHA:785
HP:0025015	Abnormal vascular morphology	57104	PNPLA2	ORPHA:565612
HP:0025015	Abnormal vascular morphology	57592	ZNF687	OMIM:616833
HP:0025015	Abnormal vascular morphology	6910	TBX5	ORPHA:392
HP:0025015	Abnormal vascular morphology	23556	PIGN	ORPHA:2059
HP:0025015	Abnormal vascular morphology	3423	IDS	ORPHA:217085
HP:0025015	Abnormal vascular morphology	3423	IDS	ORPHA:217093
HP:0025015	Abnormal vascular morphology	9759	HDAC4	ORPHA:1001
HP:0025015	Abnormal vascular morphology	2260	FGFR1	ORPHA:2396
HP:0025015	Abnormal vascular morphology	64359	NXN	ORPHA:1507
HP:0025015	Abnormal vascular morphology	4920	ROR2	ORPHA:1507
HP:0025015	Abnormal vascular morphology	9184	BUB3	ORPHA:1052
HP:0025015	Abnormal vascular morphology	699	BUB1	ORPHA:1052
HP:0025015	Abnormal vascular morphology	9702	CEP57	ORPHA:1052
HP:0025015	Abnormal vascular morphology	9319	TRIP13	ORPHA:1052
HP:0025015	Abnormal vascular morphology	701	BUB1B	ORPHA:1052
HP:0025015	Abnormal vascular morphology	2737	GLI3	ORPHA:672
HP:0025015	Abnormal vascular morphology	22827	PUF60	ORPHA:508498
HP:0025015	Abnormal vascular morphology	22827	PUF60	ORPHA:508488
HP:0025015	Abnormal vascular morphology	8216	LZTR1	OMIM:616564
HP:0025015	Abnormal vascular morphology	8216	LZTR1	ORPHA:648
HP:0025015	Abnormal vascular morphology	8216	LZTR1	OMIM:605275
HP:0025015	Abnormal vascular morphology	123606	NIPA1	ORPHA:261183
HP:0025015	Abnormal vascular morphology	7283	TUBG1	ORPHA:261183
HP:0025015	Abnormal vascular morphology	81614	NIPA2	ORPHA:261183
HP:0025015	Abnormal vascular morphology	1024	CDK8	OMIM:618748
HP:0025015	Abnormal vascular morphology	100151683	RNU4ATAC	OMIM:210710
HP:0025015	Abnormal vascular morphology	132	ADK	OMIM:614300
HP:0025015	Abnormal vascular morphology	79903	NAA60	OMIM:620786
HP:0025015	Abnormal vascular morphology	2657	GDF1	OMIM:613854
HP:0025015	Abnormal vascular morphology	5927	KDM5A	OMIM:620820
HP:0025015	Abnormal vascular morphology	79813	EHMT1	ORPHA:96147
HP:0025015	Abnormal vascular morphology	10992	SF3B2	OMIM:164210
HP:0025015	Abnormal vascular morphology	4838	NODAL	OMIM:270100
HP:0025015	Abnormal vascular morphology	4838	NODAL	ORPHA:280195
HP:0025015	Abnormal vascular morphology	64220	STRA6	OMIM:601186
HP:0025015	Abnormal vascular morphology	6888	TALDO1	ORPHA:101028
HP:0025015	Abnormal vascular morphology	6888	TALDO1	OMIM:606003
HP:0025015	Abnormal vascular morphology	7707	ZNF148	OMIM:617260
HP:0025015	Abnormal vascular morphology	7490	WT1	ORPHA:3097
HP:0025015	Abnormal vascular morphology	7490	WT1	OMIM:608978
HP:0025015	Abnormal vascular morphology	10847	SRCAP	OMIM:136140
HP:0025015	Abnormal vascular morphology	10847	SRCAP	ORPHA:2044
HP:0025015	Abnormal vascular morphology	89910	UBE3B	OMIM:244450
HP:0025015	Abnormal vascular morphology	4893	NRAS	OMIM:613224
HP:0025015	Abnormal vascular morphology	4893	NRAS	OMIM:163200
HP:0025015	Abnormal vascular morphology	4893	NRAS	ORPHA:648
HP:0025015	Abnormal vascular morphology	55784	MCTP2	ORPHA:1596
HP:0025015	Abnormal vascular morphology	8085	KMT2D	ORPHA:2322
HP:0025015	Abnormal vascular morphology	8085	KMT2D	OMIM:147920
HP:0025015	Abnormal vascular morphology	7403	KDM6A	ORPHA:2322
HP:0025015	Abnormal vascular morphology	7403	KDM6A	OMIM:300867
HP:0025015	Abnormal vascular morphology	7403	KDM6A	OMIM:147920
HP:0025015	Abnormal vascular morphology	5053	PAH	ORPHA:2209
HP:0025015	Abnormal vascular morphology	7547	ZIC3	OMIM:306955
HP:0025015	Abnormal vascular morphology	10735	STAG2	OMIM:301022
HP:0025015	Abnormal vascular morphology	1956	EGFR	OMIM:616069
HP:0025015	Abnormal vascular morphology	146862	UNC45B	OMIM:619178
HP:0025015	Abnormal vascular morphology	9968	MED12	ORPHA:93932
HP:0025015	Abnormal vascular morphology	9968	MED12	OMIM:301068
HP:0025015	Abnormal vascular morphology	1108	CHD4	OMIM:617159
HP:0025015	Abnormal vascular morphology	7026	NR2F2	OMIM:615779
HP:0025015	Abnormal vascular morphology	51057	WDPCP	OMIM:217085
HP:0025015	Abnormal vascular morphology	1000	CDH2	OMIM:618929
HP:0025015	Abnormal vascular morphology	4313	MMP2	ORPHA:371428
HP:0025015	Abnormal vascular morphology	4323	MMP14	ORPHA:371428
HP:0025015	Abnormal vascular morphology	1717	DHCR7	OMIM:270400
HP:0025015	Abnormal vascular morphology	9839	ZEB2	ORPHA:261552
HP:0025015	Abnormal vascular morphology	9839	ZEB2	ORPHA:261537
HP:0025015	Abnormal vascular morphology	5745	PTH1R	ORPHA:50945
HP:0025015	Abnormal vascular morphology	4212	MEIS2	OMIM:600987
HP:0025015	Abnormal vascular morphology	8802	SUCLG1	ORPHA:17
HP:0025015	Abnormal vascular morphology	1822	ATN1	OMIM:618494
HP:0025015	Abnormal vascular morphology	25	ABL1	OMIM:617602
HP:0025015	Abnormal vascular morphology	139285	AMER1	ORPHA:2780
HP:0025015	Abnormal vascular morphology	55644	OSGEP	OMIM:617729
HP:0025015	Abnormal vascular morphology	5826	ABCD4	OMIM:614857
HP:0025015	Abnormal vascular morphology	8883	NAE1	OMIM:620210
HP:0025015	Abnormal vascular morphology	2313	FLI1	ORPHA:2308
HP:0025015	Abnormal vascular morphology	10664	CTCF	ORPHA:363611
HP:0025015	Abnormal vascular morphology	10664	CTCF	OMIM:615502
HP:0025015	Abnormal vascular morphology	65250	CPLANE1	OMIM:277170
HP:0025015	Abnormal vascular morphology	83475	DOHH	OMIM:620066
HP:0025015	Abnormal vascular morphology	11198	SUPT16H	OMIM:619480
HP:0025015	Abnormal vascular morphology	28514	DLL1	ORPHA:280195
HP:0025015	Abnormal vascular morphology	2253	FGF8	ORPHA:280195
HP:0025015	Abnormal vascular morphology	6496	SIX3	ORPHA:280195
HP:0025015	Abnormal vascular morphology	7050	TGIF1	ORPHA:280195
HP:0025015	Abnormal vascular morphology	6469	SHH	ORPHA:280195
HP:0025015	Abnormal vascular morphology	7546	ZIC2	ORPHA:280195
HP:0025015	Abnormal vascular morphology	6491	STIL	ORPHA:280195
HP:0025015	Abnormal vascular morphology	2619	GAS1	ORPHA:280195
HP:0025015	Abnormal vascular morphology	84976	DISP1	ORPHA:280195
HP:0025015	Abnormal vascular morphology	2736	GLI2	ORPHA:280195
HP:0025015	Abnormal vascular morphology	8928	FOXH1	ORPHA:280195
HP:0025015	Abnormal vascular morphology	6997	CRIPTO	ORPHA:280195
HP:0025015	Abnormal vascular morphology	5727	PTCH1	ORPHA:280195
HP:0025015	Abnormal vascular morphology	50937	CDON	ORPHA:280195
HP:0025015	Abnormal vascular morphology	1654	DDX3X	ORPHA:3338
HP:0025015	Abnormal vascular morphology	5500	PPP1CB	OMIM:617506
HP:0025015	Abnormal vascular morphology	140628	GATA5	ORPHA:402075
HP:0025015	Abnormal vascular morphology	51322	WAC	ORPHA:284169
HP:0025015	Abnormal vascular morphology	23483	TGDS	OMIM:616145
HP:0025015	Abnormal vascular morphology	5236	PGM1	OMIM:614921
HP:0025015	Abnormal vascular morphology	22800	RRAS2	ORPHA:648
HP:0025015	Abnormal vascular morphology	867	CBL	ORPHA:648
HP:0025015	Abnormal vascular morphology	6016	RIT1	ORPHA:648
HP:0025015	Abnormal vascular morphology	6237	RRAS	ORPHA:648
HP:0025015	Abnormal vascular morphology	22808	MRAS	ORPHA:648
HP:0025015	Abnormal vascular morphology	200734	SPRED2	ORPHA:648
HP:0025015	Abnormal vascular morphology	6654	SOS1	ORPHA:648
HP:0025015	Abnormal vascular morphology	6655	SOS2	ORPHA:648
HP:0025015	Abnormal vascular morphology	6655	SOS2	OMIM:616559
HP:0025015	Abnormal vascular morphology	5922	RASA2	ORPHA:648
HP:0025015	Abnormal vascular morphology	9939	RBM8A	OMIM:274000
HP:0025015	Abnormal vascular morphology	6223	RPS19	OMIM:105650
HP:0025015	Abnormal vascular morphology	6223	RPS19	ORPHA:124
HP:0025015	Abnormal vascular morphology	6138	RPL15	ORPHA:124
HP:0025015	Abnormal vascular morphology	6224	RPS20	ORPHA:124
HP:0025015	Abnormal vascular morphology	6165	RPL35A	ORPHA:124
HP:0025015	Abnormal vascular morphology	6132	RPL8	ORPHA:124
HP:0025015	Abnormal vascular morphology	6232	RPS27	ORPHA:124
HP:0025015	Abnormal vascular morphology	55027	HEATR3	ORPHA:124
HP:0025015	Abnormal vascular morphology	6160	RPL31	ORPHA:124
HP:0025015	Abnormal vascular morphology	6201	RPS7	ORPHA:124
HP:0025015	Abnormal vascular morphology	6155	RPL27	ORPHA:124
HP:0025015	Abnormal vascular morphology	6234	RPS28	ORPHA:124
HP:0025015	Abnormal vascular morphology	6135	RPL11	ORPHA:124
HP:0025015	Abnormal vascular morphology	6229	RPS24	ORPHA:124
HP:0025015	Abnormal vascular morphology	6125	RPL5	ORPHA:124
HP:0025015	Abnormal vascular morphology	6204	RPS10	ORPHA:124
HP:0025015	Abnormal vascular morphology	2623	GATA1	ORPHA:124
HP:0025015	Abnormal vascular morphology	6133	RPL9	ORPHA:124
HP:0025015	Abnormal vascular morphology	6231	RPS26	ORPHA:124
HP:0025015	Abnormal vascular morphology	11224	RPL35	ORPHA:124
HP:0025015	Abnormal vascular morphology	6218	RPS17	ORPHA:124
HP:0025015	Abnormal vascular morphology	6154	RPL26	ORPHA:124
HP:0025015	Abnormal vascular morphology	6210	RPS15A	ORPHA:124
HP:0025015	Abnormal vascular morphology	90121	TSR2	ORPHA:124
HP:0025015	Abnormal vascular morphology	6141	RPL18	ORPHA:124
HP:0025015	Abnormal vascular morphology	6235	RPS29	ORPHA:124
HP:0025015	Abnormal vascular morphology	6595	SMARCA2	OMIM:601358
HP:0025015	Abnormal vascular morphology	51626	DYNC2LI1	OMIM:617088
HP:0025015	Abnormal vascular morphology	8295	TRRAP	OMIM:618454
HP:0025015	Abnormal vascular morphology	2703	GJA8	OMIM:612474
HP:0025015	Abnormal vascular morphology	2702	GJA5	OMIM:612474
HP:0025015	Abnormal vascular morphology	4281	MID1	ORPHA:2745
HP:0025015	Abnormal vascular morphology	6736	SRY	ORPHA:1772
HP:0025015	Abnormal vascular morphology	100128908	CIROP	OMIM:619702
HP:0025015	Abnormal vascular morphology	5604	MAP2K1	OMIM:163950
HP:0025015	Abnormal vascular morphology	526	ATP6V1B2	ORPHA:79500
HP:0025015	Abnormal vascular morphology	285590	SH3PXD2B	OMIM:249420
HP:0025015	Abnormal vascular morphology	23007	PLCH1	OMIM:619895
HP:0025015	Abnormal vascular morphology	9451	EIF2AK3	ORPHA:1667
HP:0025015	Abnormal vascular morphology	9896	FIG4	ORPHA:3472
HP:0025015	Abnormal vascular morphology	55697	VAC14	ORPHA:3472
HP:0025015	Abnormal vascular morphology	50628	GEMIN4	OMIM:617913
HP:0025015	Abnormal vascular morphology	5456	POU3F4	ORPHA:1435
HP:0025015	Abnormal vascular morphology	6651	SON	ORPHA:500150
HP:0025015	Abnormal vascular morphology	79184	BRCC3	ORPHA:280679
HP:0025015	Abnormal vascular morphology	2783	GNB2	OMIM:619503
HP:0025015	Abnormal vascular morphology	3674	ITGA2B	OMIM:273800
HP:0025015	Abnormal vascular morphology	3674	ITGA2B	ORPHA:853
HP:0025015	Abnormal vascular morphology	1798	DPAGT1	ORPHA:86309
HP:0025015	Abnormal vascular morphology	54809	SAMD9	OMIM:617053
HP:0025015	Abnormal vascular morphology	2155	F7	OMIM:227500
HP:0025015	Abnormal vascular morphology	2155	F7	ORPHA:327
HP:0025015	Abnormal vascular morphology	65062	TMEM237	OMIM:614424
HP:0025015	Abnormal vascular morphology	5345	SERPINF2	ORPHA:79
HP:0025015	Abnormal vascular morphology	5054	SERPINE1	ORPHA:465
HP:0025015	Abnormal vascular morphology	249	ALPL	OMIM:241500
HP:0025015	Abnormal vascular morphology	3998	LMAN1	ORPHA:35909
HP:0025015	Abnormal vascular morphology	90411	MCFD2	ORPHA:35909
HP:0025015	Abnormal vascular morphology	2162	F13A1	OMIM:613225
HP:0025015	Abnormal vascular morphology	2811	GP1BA	ORPHA:853
HP:0025015	Abnormal vascular morphology	2812	GP1BB	ORPHA:853
HP:0025015	Abnormal vascular morphology	3673	ITGA2	ORPHA:853
HP:0025015	Abnormal vascular morphology	135228	CD109	ORPHA:853
HP:0025015	Abnormal vascular morphology	3690	ITGB3	ORPHA:853
HP:0025015	Abnormal vascular morphology	1584	CYP11B1	ORPHA:90795
HP:0025015	Abnormal vascular morphology	1584	CYP11B1	ORPHA:403
HP:0025015	Abnormal vascular morphology	5373	PMM2	ORPHA:79318
HP:0025015	Abnormal vascular morphology	2159	F10	OMIM:227600
HP:0025015	Abnormal vascular morphology	889	KRIT1	OMIM:116860
HP:0025015	Abnormal vascular morphology	1284	COL4A2	OMIM:614483
HP:0025015	Abnormal vascular morphology	2157	F8	ORPHA:169805
HP:0025015	Abnormal vascular morphology	2157	F8	ORPHA:169802
HP:0025015	Abnormal vascular morphology	340665	CYP26C1	ORPHA:398189
HP:0025015	Abnormal vascular morphology	2624	GATA2	ORPHA:228423
HP:0025015	Abnormal vascular morphology	1181	CLCN2	ORPHA:404
HP:0025015	Abnormal vascular morphology	1585	CYP11B2	ORPHA:403
HP:0025015	Abnormal vascular morphology	776	CACNA1D	ORPHA:369929
HP:0025015	Abnormal vascular morphology	25942	SIN3A	OMIM:613406
HP:0025015	Abnormal vascular morphology	3762	KCNJ5	ORPHA:251274
HP:0025015	Abnormal vascular morphology	55901	THSD1	ORPHA:231160
HP:0025015	Abnormal vascular morphology	7049	TGFBR3	ORPHA:231160
HP:0025015	Abnormal vascular morphology	83854	ANGPTL6	ORPHA:231160
HP:0025015	Abnormal vascular morphology	90952	ESAM	OMIM:620371
HP:0025015	Abnormal vascular morphology	7066	THPO	ORPHA:71493
HP:0025015	Abnormal vascular morphology	71	ACTG1	ORPHA:2995
HP:0025015	Abnormal vascular morphology	60	ACTB	ORPHA:2995
HP:0025015	Abnormal vascular morphology	5621	PRNP	ORPHA:282166
HP:0025015	Abnormal vascular morphology	4702	NDUFA8	OMIM:619272
HP:0025015	Abnormal vascular morphology	4574	MT-TS1	OMIM:540000
HP:0025015	Abnormal vascular morphology	4574	MT-TS1	ORPHA:550
HP:0025015	Abnormal vascular morphology	4575	MT-TS2	OMIM:540000
HP:0025015	Abnormal vascular morphology	4575	MT-TS2	ORPHA:550
HP:0025015	Abnormal vascular morphology	4535	MT-ND1	OMIM:540000
HP:0025015	Abnormal vascular morphology	4535	MT-ND1	ORPHA:550
HP:0025015	Abnormal vascular morphology	4567	MT-TL1	OMIM:540000
HP:0025015	Abnormal vascular morphology	4567	MT-TL1	ORPHA:550
HP:0025015	Abnormal vascular morphology	4512	MT-CO1	OMIM:540000
HP:0025015	Abnormal vascular morphology	4512	MT-CO1	ORPHA:550
HP:0025015	Abnormal vascular morphology	4513	MT-CO2	OMIM:540000
HP:0025015	Abnormal vascular morphology	4513	MT-CO2	ORPHA:550
HP:0025015	Abnormal vascular morphology	4514	MT-CO3	OMIM:540000
HP:0025015	Abnormal vascular morphology	4514	MT-CO3	ORPHA:550
HP:0025015	Abnormal vascular morphology	4519	MT-CYB	OMIM:540000
HP:0025015	Abnormal vascular morphology	4519	MT-CYB	ORPHA:137675
HP:0025015	Abnormal vascular morphology	4511	MT-TC	OMIM:540000
HP:0025015	Abnormal vascular morphology	4572	MT-TQ	OMIM:540000
HP:0025015	Abnormal vascular morphology	4572	MT-TQ	ORPHA:550
HP:0025015	Abnormal vascular morphology	4577	MT-TV	OMIM:540000
HP:0025015	Abnormal vascular morphology	4578	MT-TW	OMIM:540000
HP:0025015	Abnormal vascular morphology	4578	MT-TW	ORPHA:550
HP:0025015	Abnormal vascular morphology	4558	MT-TF	OMIM:540000
HP:0025015	Abnormal vascular morphology	4558	MT-TF	ORPHA:550
HP:0025015	Abnormal vascular morphology	4566	MT-TK	OMIM:540000
HP:0025015	Abnormal vascular morphology	4540	MT-ND5	OMIM:540000
HP:0025015	Abnormal vascular morphology	4540	MT-ND5	ORPHA:550
HP:0025015	Abnormal vascular morphology	4541	MT-ND6	OMIM:540000
HP:0025015	Abnormal vascular morphology	4541	MT-ND6	ORPHA:550
HP:0025015	Abnormal vascular morphology	7466	WFS1	OMIM:222300
HP:0025015	Abnormal vascular morphology	4538	MT-ND4	ORPHA:550
HP:0025015	Abnormal vascular morphology	4564	MT-TH	ORPHA:550
HP:0025015	Abnormal vascular morphology	3980	LIG3	OMIM:619780
HP:0025015	Abnormal vascular morphology	54344	DPM3	ORPHA:263494
HP:0025015	Abnormal vascular morphology	6786	STIM1	OMIM:185070
HP:0025015	Abnormal vascular morphology	91869	RFT1	ORPHA:244310
HP:0025015	Abnormal vascular morphology	23600	AMACR	ORPHA:79095
HP:0025015	Abnormal vascular morphology	129607	CMPK2	OMIM:621018
HP:0025015	Abnormal vascular morphology	10128	LRPPRC	ORPHA:70472
HP:0025015	Abnormal vascular morphology	3845	KRAS	OMIM:108010
HP:0025015	Abnormal vascular morphology	3569	IL6	OMIM:108010
HP:0025015	Abnormal vascular morphology	6575	SLC20A2	OMIM:213600
HP:0025015	Abnormal vascular morphology	55072	RNF31	OMIM:620632
HP:0025015	Abnormal vascular morphology	1604	CD55	OMIM:226300
HP:0025015	Abnormal vascular morphology	80169	CTC1	OMIM:612199
HP:0025015	Abnormal vascular morphology	1278	COL1A2	ORPHA:230851
HP:0025015	Abnormal vascular morphology	2332	FMR1	ORPHA:449291
HP:0025015	Abnormal vascular morphology	7169	TPM2	ORPHA:171881
HP:0025015	Abnormal vascular morphology	7170	TPM3	ORPHA:171881
HP:0025015	Abnormal vascular morphology	9469	CHST3	OMIM:245600
HP:0025015	Abnormal vascular morphology	26229	B3GAT3	OMIM:245600
HP:0025015	Abnormal vascular morphology	4883	NPR3	OMIM:619543
HP:0025015	Abnormal vascular morphology	79576	NKAP	OMIM:301039
HP:0025015	Abnormal vascular morphology	833	CARS1	OMIM:618891
HP:0025015	Abnormal vascular morphology	54538	ROBO4	OMIM:618496
HP:0025015	Abnormal vascular morphology	4088	SMAD3	ORPHA:284984
HP:0025015	Abnormal vascular morphology	4088	SMAD3	ORPHA:60030
HP:0025015	Abnormal vascular morphology	538	ATP7A	ORPHA:198
HP:0025015	Abnormal vascular morphology	538	ATP7A	ORPHA:565
HP:0025015	Abnormal vascular morphology	1281	COL3A1	OMIM:618343
HP:0025015	Abnormal vascular morphology	1281	COL3A1	ORPHA:286
HP:0025015	Abnormal vascular morphology	8425	LTBP4	OMIM:613177
HP:0025015	Abnormal vascular morphology	81031	SLC2A10	ORPHA:3342
HP:0025015	Abnormal vascular morphology	57167	SALL4	OMIM:607323
HP:0025015	Abnormal vascular morphology	5781	PTPN11	ORPHA:500
HP:0025015	Abnormal vascular morphology	673	BRAF	ORPHA:500
HP:0025015	Abnormal vascular morphology	5894	RAF1	ORPHA:500
HP:0025015	Abnormal vascular morphology	91147	TMEM67	OMIM:216360
HP:0025015	Abnormal vascular morphology	197131	UBR1	OMIM:243800
HP:0025015	Abnormal vascular morphology	11231	SEC63	ORPHA:2924
HP:0025015	Abnormal vascular morphology	5589	PRKCSH	ORPHA:2924
HP:0025015	Abnormal vascular morphology	4041	LRP5	ORPHA:2924
HP:0025015	Abnormal vascular morphology	8481	OFD1	OMIM:311200
HP:0025015	Abnormal vascular morphology	8481	OFD1	ORPHA:2750
HP:0025015	Abnormal vascular morphology	5573	PRKAR1A	ORPHA:615
HP:0025015	Abnormal vascular morphology	6774	STAT3	ORPHA:2314
HP:0025015	Abnormal vascular morphology	4052	LTBP1	ORPHA:90349
HP:0025015	Abnormal vascular morphology	30008	EFEMP2	ORPHA:90349
HP:0025015	Abnormal vascular morphology	10516	FBLN5	ORPHA:90349
HP:0025015	Abnormal vascular morphology	57728	WDR19	OMIM:616307
HP:0025015	Abnormal vascular morphology	3593	IL12B	ORPHA:3287
HP:0025015	Abnormal vascular morphology	3106	HLA-B	ORPHA:3287
HP:0025015	Abnormal vascular morphology	6945	MLX	ORPHA:3287
HP:0025015	Abnormal vascular morphology	3110	MNX1	OMIM:176450
HP:0025015	Abnormal vascular morphology	5351	PLOD1	ORPHA:1900
HP:0025015	Abnormal vascular morphology	286204	CRB2	OMIM:219730
HP:0025015	Abnormal vascular morphology	54903	MKS1	OMIM:249000
HP:0025015	Abnormal vascular morphology	5087	PBX1	OMIM:617641
HP:0025015	Abnormal vascular morphology	7046	TGFBR1	ORPHA:60030
HP:0025015	Abnormal vascular morphology	10526	IPO8	ORPHA:60030
HP:0025015	Abnormal vascular morphology	7048	TGFBR2	ORPHA:60030
HP:0025015	Abnormal vascular morphology	7042	TGFB2	ORPHA:60030
HP:0025015	Abnormal vascular morphology	7043	TGFB3	ORPHA:60030
HP:0025015	Abnormal vascular morphology	4087	SMAD2	ORPHA:60030
HP:0025015	Abnormal vascular morphology	51025	PAM16	OMIM:613320
HP:0025015	Abnormal vascular morphology	6663	SOX10	OMIM:611584
HP:0025015	Abnormal vascular morphology	284119	CAVIN1	OMIM:613327
HP:0025015	Abnormal vascular morphology	4878	NPPA	OMIM:615745
HP:0025015	Abnormal vascular morphology	5193	PEX12	OMIM:614859
HP:0025015	Abnormal vascular morphology	9158	FIBP	ORPHA:500095
HP:0025015	Abnormal vascular morphology	9158	FIBP	OMIM:617107
HP:0025015	Abnormal vascular morphology	2303	FOXC2	ORPHA:33001
HP:0025015	Abnormal vascular morphology	2303	FOXC2	OMIM:153400
HP:0025015	Abnormal vascular morphology	55315	SLC29A3	OMIM:602782
HP:0025015	Abnormal vascular morphology	55315	SLC29A3	ORPHA:168569
HP:0025015	Abnormal vascular morphology	3798	KIF5A	ORPHA:100991
HP:0025015	Abnormal vascular morphology	1188	CLCNKB	ORPHA:358
HP:0025015	Abnormal vascular morphology	6559	SLC12A3	ORPHA:358
HP:0025015	Abnormal vascular morphology	19	ABCA1	OMIM:205400
HP:0025015	Abnormal vascular morphology	19	ABCA1	ORPHA:425
HP:0025015	Abnormal vascular morphology	7840	ALMS1	OMIM:203800
HP:0025015	Abnormal vascular morphology	3931	LCAT	ORPHA:79292
HP:0025015	Abnormal vascular morphology	91754	NEK9	OMIM:617022
HP:0025015	Abnormal vascular morphology	23395	LARS2	OMIM:617021
HP:0025015	Abnormal vascular morphology	54539	NDUFB11	OMIM:309801
HP:0025015	Abnormal vascular morphology	1349	COX7B	OMIM:309801
HP:0025015	Abnormal vascular morphology	3052	HCCS	OMIM:309801
HP:0025015	Abnormal vascular morphology	55636	CHD7	OMIM:214800
HP:0025015	Abnormal vascular morphology	2263	FGFR2	OMIM:101200
HP:0025015	Abnormal vascular morphology	2324	FLT4	ORPHA:79452
HP:0025015	Abnormal vascular morphology	9780	PIEZO1	ORPHA:79452
HP:0025015	Abnormal vascular morphology	285	ANGPT2	ORPHA:79452
HP:0025015	Abnormal vascular morphology	57165	GJC2	ORPHA:79452
HP:0025015	Abnormal vascular morphology	11146	GLMN	ORPHA:83454
HP:0025015	Abnormal vascular morphology	26191	PTPN22	ORPHA:397
HP:0025015	Abnormal vascular morphology	26191	PTPN22	ORPHA:900
HP:0025015	Abnormal vascular morphology	26191	PTPN22	OMIM:180300
HP:0025015	Abnormal vascular morphology	3123	HLA-DRB1	ORPHA:397
HP:0025015	Abnormal vascular morphology	8974	P4HA2	ORPHA:397
HP:0025015	Abnormal vascular morphology	355	FAS	ORPHA:3261
HP:0025015	Abnormal vascular morphology	355	FAS	OMIM:601859
HP:0025015	Abnormal vascular morphology	355	FAS	ORPHA:117
HP:0025015	Abnormal vascular morphology	356	FASLG	ORPHA:3261
HP:0025015	Abnormal vascular morphology	356	FASLG	OMIM:601859
HP:0025015	Abnormal vascular morphology	843	CASP10	ORPHA:3261
HP:0025015	Abnormal vascular morphology	843	CASP10	OMIM:603909
HP:0025015	Abnormal vascular morphology	90268	OTULIN	OMIM:617099
HP:0025015	Abnormal vascular morphology	720	C4A	OMIM:614380
HP:0025015	Abnormal vascular morphology	720	C4A	ORPHA:117
HP:0025015	Abnormal vascular morphology	114548	NLRP3	OMIM:191900
HP:0025015	Abnormal vascular morphology	114548	NLRP3	ORPHA:575
HP:0025015	Abnormal vascular morphology	7454	WAS	ORPHA:906
HP:0025015	Abnormal vascular morphology	7456	WIPF1	ORPHA:906
HP:0025015	Abnormal vascular morphology	3426	CFI	OMIM:610984
HP:0025015	Abnormal vascular morphology	1493	CTLA4	ORPHA:900
HP:0025015	Abnormal vascular morphology	3115	HLA-DPB1	ORPHA:900
HP:0025015	Abnormal vascular morphology	5657	PRTN3	ORPHA:900
HP:0025015	Abnormal vascular morphology	3113	HLA-DPA1	ORPHA:900
HP:0025015	Abnormal vascular morphology	4598	MVK	ORPHA:343
HP:0025015	Abnormal vascular morphology	4210	MEFV	ORPHA:342
HP:0025015	Abnormal vascular morphology	4210	MEFV	ORPHA:117
HP:0025015	Abnormal vascular morphology	9051	PSTPIP1	OMIM:601979
HP:0025015	Abnormal vascular morphology	11277	TREX1	OMIM:225750
HP:0025015	Abnormal vascular morphology	51816	ADA2	OMIM:615688
HP:0025015	Abnormal vascular morphology	64135	IFIH1	OMIM:615846
HP:0025015	Abnormal vascular morphology	7132	TNFRSF1A	ORPHA:32960
HP:0025015	Abnormal vascular morphology	4068	SH2D1A	OMIM:308240
HP:0025015	Abnormal vascular morphology	331	XIAP	OMIM:308240
HP:0025015	Abnormal vascular morphology	6335	SCN9A	ORPHA:90026
HP:0025015	Abnormal vascular morphology	11280	SCN11A	ORPHA:90026
HP:0025015	Abnormal vascular morphology	6336	SCN10A	ORPHA:90026
HP:0025015	Abnormal vascular morphology	10095	ARPC1B	OMIM:617718
HP:0025015	Abnormal vascular morphology	3586	IL10	OMIM:180300
HP:0025015	Abnormal vascular morphology	3586	IL10	ORPHA:117
HP:0025015	Abnormal vascular morphology	6583	SLC22A4	OMIM:180300
HP:0025015	Abnormal vascular morphology	4261	CIITA	OMIM:180300
HP:0025015	Abnormal vascular morphology	51744	CD244	OMIM:180300
HP:0025015	Abnormal vascular morphology	4795	NFKBIL1	OMIM:180300
HP:0025015	Abnormal vascular morphology	29110	TBK1	OMIM:620880
HP:0025015	Abnormal vascular morphology	4615	MYD88	ORPHA:33226
HP:0025015	Abnormal vascular morphology	23495	TNFRSF13B	ORPHA:1572
HP:0025015	Abnormal vascular morphology	4790	NFKB1	ORPHA:1572
HP:0025015	Abnormal vascular morphology	4791	NFKB2	ORPHA:1572
HP:0025015	Abnormal vascular morphology	115650	TNFRSF13C	ORPHA:1572
HP:0025015	Abnormal vascular morphology	1380	CR2	ORPHA:1572
HP:0025015	Abnormal vascular morphology	8742	TNFSF12	ORPHA:1572
HP:0025015	Abnormal vascular morphology	930	CD19	ORPHA:1572
HP:0025015	Abnormal vascular morphology	29851	ICOS	ORPHA:1572
HP:0025015	Abnormal vascular morphology	931	MS4A1	ORPHA:1572
HP:0025015	Abnormal vascular morphology	975	CD81	ORPHA:1572
HP:0025015	Abnormal vascular morphology	359948	IRF2BP2	ORPHA:1572
HP:0025015	Abnormal vascular morphology	54	ACP5	ORPHA:1855
HP:0025015	Abnormal vascular morphology	149233	IL23R	ORPHA:117
HP:0025015	Abnormal vascular morphology	6775	STAT4	ORPHA:117
HP:0025015	Abnormal vascular morphology	1230	CCR1	ORPHA:117
HP:0025015	Abnormal vascular morphology	3592	IL12A	ORPHA:117
HP:0025015	Abnormal vascular morphology	101928376	IL12A-AS1	ORPHA:117
HP:0025015	Abnormal vascular morphology	7099	TLR4	ORPHA:117
HP:0025015	Abnormal vascular morphology	3459	IFNGR1	ORPHA:117
HP:0025015	Abnormal vascular morphology	337867	UBAC2	ORPHA:117
HP:0025015	Abnormal vascular morphology	51752	ERAP1	ORPHA:117
HP:0025015	Abnormal vascular morphology	8302	KLRC4	ORPHA:117
HP:0025015	Abnormal vascular morphology	2068	ERCC2	ORPHA:220295
HP:0025015	Abnormal vascular morphology	2073	ERCC5	ORPHA:220295
HP:0025015	Abnormal vascular morphology	2071	ERCC3	ORPHA:220295
HP:0025015	Abnormal vascular morphology	847	CAT	ORPHA:926
HP:0025015	Abnormal vascular morphology	3988	LIPA	ORPHA:75234
HP:0025015	Abnormal vascular morphology	6309	SC5D	OMIM:607330
HP:0025015	Abnormal vascular morphology	10577	NPC2	OMIM:607625
HP:0025015	Abnormal vascular morphology	5294	PIK3CG	OMIM:619802
HP:0025015	Abnormal vascular morphology	1439	CSF2RB	ORPHA:264675
HP:0025015	Abnormal vascular morphology	1438	CSF2RA	ORPHA:264675
HP:0025015	Abnormal vascular morphology	4864	NPC1	OMIM:257220
HP:0025015	Abnormal vascular morphology	5538	PPT1	OMIM:256730
HP:0025015	Abnormal vascular morphology	5654	HTRA1	ORPHA:199354
HP:0025015	Abnormal vascular morphology	54982	CLN6	OMIM:204300
HP:0025015	Abnormal vascular morphology	80331	DNAJC5	OMIM:162350
HP:0025015	Abnormal vascular morphology	1509	CTSD	OMIM:610127
HP:0025015	Abnormal vascular morphology	2055	CLN8	ORPHA:1947
HP:0025015	Abnormal vascular morphology	4854	NOTCH3	OMIM:125310
HP:0025015	Abnormal vascular morphology	1272	CNTN1	OMIM:612540
HP:0025015	Abnormal vascular morphology	10082	GPC6	OMIM:258315
HP:0025015	Abnormal vascular morphology	9681	DEPDC5	OMIM:620504
HP:0025015	Abnormal vascular morphology	64919	BCL11B	OMIM:617237
HP:0025015	Abnormal vascular morphology	54361	WNT4	OMIM:611812
HP:0025015	Abnormal vascular morphology	10312	TCIRG1	ORPHA:667
HP:0025015	Abnormal vascular morphology	1186	CLCN7	ORPHA:667
HP:0025015	Abnormal vascular morphology	29887	SNX10	ORPHA:667
HP:0025015	Abnormal vascular morphology	8600	TNFSF11	ORPHA:667
HP:0025015	Abnormal vascular morphology	5422	POLA1	OMIM:301030
HP:0025015	Abnormal vascular morphology	4256	MGP	ORPHA:85202
HP:0025015	Abnormal vascular morphology	92002	CCNQ	ORPHA:140952
HP:0025015	Abnormal vascular morphology	1593	CYP27A1	ORPHA:909
HP:0025015	Abnormal vascular morphology	116519	APOA5	OMIM:145750
HP:0025015	Abnormal vascular morphology	4023	LPL	OMIM:238600
HP:0025015	Abnormal vascular morphology	3053	SERPIND1	OMIM:612356
HP:0025015	Abnormal vascular morphology	171019	ADAMTS19	OMIM:620067
HP:0025015	Abnormal vascular morphology	11117	EMILIN1	OMIM:620080
HP:0025015	Abnormal vascular morphology	1161	ERCC8	ORPHA:90324
HP:0025015	Abnormal vascular morphology	2074	ERCC6	ORPHA:90324
HP:0025015	Abnormal vascular morphology	2591	GALNT3	OMIM:211900
HP:0025015	Abnormal vascular morphology	2629	GBA1	OMIM:231000
HP:0025015	Abnormal vascular morphology	78987	CRELD1	OMIM:606217
HP:0025015	Abnormal vascular morphology	23476	BRD4	OMIM:620568
HP:0025015	Abnormal vascular morphology	8772	FADD	OMIM:613759
HP:0025015	Abnormal vascular morphology	8772	FADD	ORPHA:306550
HP:0025015	Abnormal vascular morphology	55593	OTUD5	OMIM:301056
HP:0025015	Abnormal vascular morphology	54487	DGCR8	OMIM:192430
HP:0025015	Abnormal vascular morphology	8214	DGCR6	OMIM:192430
HP:0025015	Abnormal vascular morphology	8220	ESS2	OMIM:192430
HP:0025015	Abnormal vascular morphology	9993	DGCR2	OMIM:192430
HP:0025015	Abnormal vascular morphology	26834	RNU4-2	OMIM:620851
HP:0025015	Abnormal vascular morphology	375	ARF1	ORPHA:98892
HP:0025015	Abnormal vascular morphology	4131	MAP1B	ORPHA:98892
HP:0025015	Abnormal vascular morphology	23327	NEDD4L	ORPHA:98892
HP:0025015	Abnormal vascular morphology	160418	TMTC3	ORPHA:98892
HP:0025015	Abnormal vascular morphology	10564	ARFGEF2	ORPHA:98892
HP:0025015	Abnormal vascular morphology	55780	ERMARD	ORPHA:98892
HP:0025015	Abnormal vascular morphology	23118	TAB2	OMIM:614980
HP:0025015	Abnormal vascular morphology	6711	SPTBN1	OMIM:619475
HP:0025015	Abnormal vascular morphology	29957	SLC25A24	OMIM:612289
HP:0025015	Abnormal vascular morphology	4091	SMAD6	OMIM:614823
HP:0025015	Abnormal vascular morphology	3081	HGD	OMIM:203500
HP:0025015	Abnormal vascular morphology	3081	HGD	ORPHA:56
HP:0025015	Abnormal vascular morphology	64324	NSD1	ORPHA:821
HP:0025015	Abnormal vascular morphology	10297	APC2	ORPHA:821
HP:0025015	Abnormal vascular morphology	3190	HNRNPK	ORPHA:453504
HP:0025015	Abnormal vascular morphology	3190	HNRNPK	ORPHA:352665
HP:0025015	Abnormal vascular morphology	51611	DPH5	OMIM:620070
HP:0025015	Abnormal vascular morphology	10743	RAI1	ORPHA:477817
HP:0025015	Abnormal vascular morphology	284058	KANSL1	ORPHA:363965
HP:0025015	Abnormal vascular morphology	284058	KANSL1	ORPHA:363958
HP:0025015	Abnormal vascular morphology	613	BCR	ORPHA:261330
HP:0025015	Abnormal vascular morphology	1399	CRKL	ORPHA:261330
HP:0025015	Abnormal vascular morphology	5594	MAPK1	ORPHA:261330
HP:0025015	Abnormal vascular morphology	1277	COL1A1	OMIM:166200
HP:0025015	Abnormal vascular morphology	113246	C12orf57	OMIM:218340
HP:0025015	Abnormal vascular morphology	6497	SKI	OMIM:182212
HP:0025015	Abnormal vascular morphology	25885	POLR1A	OMIM:616462
HP:0025015	Abnormal vascular morphology	80204	FBXO11	OMIM:618089
HP:0025015	Abnormal vascular morphology	5832	ALDH18A1	ORPHA:90348
HP:0025015	Abnormal vascular morphology	3458	IFNG	ORPHA:805
HP:0025015	Abnormal vascular morphology	7248	TSC1	ORPHA:805
HP:0025015	Abnormal vascular morphology	7249	TSC2	ORPHA:805
HP:0025015	Abnormal vascular morphology	4621	MYH3	ORPHA:2990
HP:0025015	Abnormal vascular morphology	1146	CHRNG	ORPHA:2990
HP:0025015	Abnormal vascular morphology	64127	NOD2	ORPHA:90340
HP:0025015	Abnormal vascular morphology	2317	FLNB	OMIM:150250
HP:0025015	Abnormal vascular morphology	10535	RNASEH2A	ORPHA:51
HP:0025015	Abnormal vascular morphology	84153	RNASEH2C	ORPHA:51
HP:0025015	Abnormal vascular morphology	25939	SAMHD1	ORPHA:51
HP:0025015	Abnormal vascular morphology	79621	RNASEH2B	ORPHA:51
HP:0025015	Abnormal vascular morphology	103	ADAR	ORPHA:51
HP:0025015	Abnormal vascular morphology	100147744	RNU7-1	ORPHA:51
HP:0025015	Abnormal vascular morphology	134353	LSM11	ORPHA:51
HP:0025015	Abnormal vascular morphology	6874	TAF4	OMIM:620450
HP:0025015	Abnormal vascular morphology	2201	FBN2	ORPHA:115
HP:0025015	Abnormal vascular morphology	6772	STAT1	ORPHA:391487
HP:0025015	Abnormal vascular morphology	2548	GAA	OMIM:232300
HP:0025015	Abnormal vascular morphology	10056	FARSB	OMIM:613658
HP:0025015	Abnormal vascular morphology	4796	TONSL	ORPHA:93357
HP:0025015	Abnormal vascular morphology	2677	GGCX	ORPHA:91135
HP:0025015	Abnormal vascular morphology	1289	COL5A1	ORPHA:287
HP:0025015	Abnormal vascular morphology	1289	COL5A1	OMIM:619329
HP:0025015	Abnormal vascular morphology	1290	COL5A2	ORPHA:287
HP:0025015	Abnormal vascular morphology	633	BGN	OMIM:300989
HP:0025015	Abnormal vascular morphology	8985	PLOD3	OMIM:612394
HP:0025015	Abnormal vascular morphology	335	APOA1	OMIM:620657
HP:0025015	Abnormal vascular morphology	5831	PYCR1	OMIM:612940
HP:0025015	Abnormal vascular morphology	3417	IDH1	ORPHA:99646
HP:0025015	Abnormal vascular morphology	10491	CRTAP	OMIM:610682
HP:0025015	Abnormal vascular morphology	55181	SMG8	OMIM:619268
HP:0025015	Abnormal vascular morphology	10568	SLC34A2	ORPHA:60025
HP:0025015	Abnormal vascular morphology	3977	LIFR	OMIM:601559
HP:0025015	Abnormal vascular morphology	57551	TAOK1	OMIM:619575
HP:0025015	Abnormal vascular morphology	84720	PIGO	OMIM:614749
HP:0025015	Abnormal vascular morphology	112752	IFT43	OMIM:614099
HP:0025015	Abnormal vascular morphology	2972	BRF1	ORPHA:444072
HP:0025015	Abnormal vascular morphology	10293	TRAIP	OMIM:616777
HP:0025015	Abnormal vascular morphology	10157	AASS	ORPHA:2203
HP:0025015	Abnormal vascular morphology	286053	NSMCE2	OMIM:617253
HP:0025015	Abnormal vascular morphology	3990	LIPC	ORPHA:140905
HP:0025015	Abnormal vascular morphology	84984	CEP19	OMIM:615703
HP:0025015	Abnormal vascular morphology	338328	GPIHBP1	OMIM:615947
HP:0025015	Abnormal vascular morphology	4205	MEF2A	OMIM:608320
HP:0025015	Abnormal vascular morphology	4040	LRP6	OMIM:610947
HP:0025015	Abnormal vascular morphology	4010	LMX1B	ORPHA:2614
HP:0025015	Abnormal vascular morphology	3198	HOXA1	OMIM:601536
HP:0025015	Abnormal vascular morphology	7058	THBS2	OMIM:620865
HP:0025015	Abnormal vascular morphology	55109	AGGF1	ORPHA:90308
HP:0025015	Abnormal vascular morphology	4693	NDP	ORPHA:649
HP:0025015	Abnormal vascular morphology	64093	SMOC1	ORPHA:1106
HP:0025015	Abnormal vascular morphology	128	ADH5	OMIM:619151
HP:0025015	Abnormal vascular morphology	79645	CLXN	OMIM:620642
HP:0025015	Abnormal vascular morphology	7386	UQCRFS1	OMIM:618775
HP:0025015	Abnormal vascular morphology	7703	PCGF2	OMIM:618371
HP:0025015	Abnormal vascular morphology	340419	RSPO2	OMIM:618021
HP:0025015	Abnormal vascular morphology	81704	DOCK8	OMIM:243700
HP:0025015	Abnormal vascular morphology	10621	POLR3F	OMIM:619872
HP:0025015	Abnormal vascular morphology	7319	UBE2A	ORPHA:163956
HP:0025015	Abnormal vascular morphology	10283	CWC27	ORPHA:166035
HP:0025015	Abnormal vascular morphology	54345	SOX18	OMIM:137940
HP:0025015	Abnormal vascular morphology	2294	FOXF1	OMIM:265380
HP:0025015	Abnormal vascular morphology	5318	PKP2	OMIM:609040
HP:0025015	Abnormal vascular morphology	29925	GMPPB	ORPHA:363623
HP:0025015	Abnormal vascular morphology	54914	FOCAD	OMIM:619991
HP:0025015	Abnormal vascular morphology	6899	TBX1	ORPHA:3384
HP:0025015	Abnormal vascular morphology	137814	NKX2-6	ORPHA:3384
HP:0025015	Abnormal vascular morphology	23129	PLXND1	ORPHA:3384
HP:0025015	Abnormal vascular morphology	1376	CPT2	OMIM:608836
HP:0025015	Abnormal vascular morphology	23545	ATP6V0A2	ORPHA:2834
HP:0025015	Abnormal vascular morphology	23545	ATP6V0A2	ORPHA:357074
HP:0025015	Abnormal vascular morphology	523	ATP6V1A	ORPHA:357074
HP:0025015	Abnormal vascular morphology	85465	SELENOI	ORPHA:506353
HP:0025015	Abnormal vascular morphology	4536	MT-ND2	OMIM:535000
HP:0025015	Abnormal vascular morphology	4539	MT-ND4L	OMIM:535000
HP:0025015	Abnormal vascular morphology	4750	NEK1	ORPHA:2751
HP:0025015	Abnormal vascular morphology	2161	F12	ORPHA:330
HP:0025015	Abnormal vascular morphology	7439	BEST1	OMIM:193220
HP:0025015	Abnormal vascular morphology	7287	TULP1	OMIM:600132
HP:0025015	Abnormal vascular morphology	9129	PRPF3	OMIM:601414
HP:0025015	Abnormal vascular morphology	57096	RPGRIP1	OMIM:613826
HP:0025015	Abnormal vascular morphology	54820	NDE1	ORPHA:2177
HP:0025015	Abnormal vascular morphology	427	ASAH1	ORPHA:333
HP:0025015	Abnormal vascular morphology	427	ASAH1	OMIM:228000
HP:0025015	Abnormal vascular morphology	5476	CTSA	ORPHA:351
HP:0025015	Abnormal vascular morphology	5476	CTSA	OMIM:256540
HP:0025015	Abnormal vascular morphology	6609	SMPD1	ORPHA:77293
HP:0025015	Abnormal vascular morphology	6609	SMPD1	OMIM:257200
HP:0025015	Abnormal vascular morphology	3074	HEXB	ORPHA:309155
HP:0025015	Abnormal vascular morphology	3074	HEXB	OMIM:268800
HP:0025015	Abnormal vascular morphology	2517	FUCA1	OMIM:230000
HP:0025015	Abnormal vascular morphology	2720	GLB1	OMIM:230500
HP:0025015	Abnormal vascular morphology	2720	GLB1	OMIM:230650
HP:0025015	Abnormal vascular morphology	2720	GLB1	ORPHA:79255
HP:0025015	Abnormal vascular morphology	2581	GALC	ORPHA:206436
HP:0025015	Abnormal vascular morphology	5660	PSAP	ORPHA:206436
HP:0025015	Abnormal vascular morphology	4758	NEU1	OMIM:256550
HP:0025015	Abnormal vascular morphology	4758	NEU1	ORPHA:93399
HP:0025015	Abnormal vascular morphology	4758	NEU1	ORPHA:812
HP:0025015	Abnormal vascular morphology	4758	NEU1	ORPHA:93400
HP:0025015	Abnormal vascular morphology	3073	HEXA	OMIM:272800
HP:0025015	Abnormal vascular morphology	1615	DARS1	OMIM:615281
HP:0025015	Abnormal vascular morphology	2760	GM2A	ORPHA:309246
HP:0025015	Abnormal vascular morphology	10730	YME1L1	OMIM:617302
HP:0025015	Abnormal vascular morphology	134701	RIPPLY2	ORPHA:2311
HP:0025015	Abnormal vascular morphology	10683	DLL3	ORPHA:2311
HP:0025015	Abnormal vascular morphology	3955	LFNG	ORPHA:2311
HP:0025015	Abnormal vascular morphology	145873	MESP2	ORPHA:2311
HP:0025015	Abnormal vascular morphology	8243	SMC1A	OMIM:301044
HP:0025015	Abnormal vascular morphology	5296	PIK3R2	OMIM:603387
HP:0025015	Abnormal vascular morphology	51726	DNAJB11	ORPHA:730
HP:0025015	Abnormal vascular morphology	23193	GANAB	ORPHA:730
HP:0025015	Abnormal vascular morphology	5310	PKD1	ORPHA:730
HP:0025015	Abnormal vascular morphology	5311	PKD2	ORPHA:730
HP:0025015	Abnormal vascular morphology	29880	ALG5	ORPHA:730
HP:0025015	Abnormal vascular morphology	9742	IFT140	ORPHA:730
HP:0025015	Abnormal vascular morphology	79796	ALG9	ORPHA:730
HP:0025015	Abnormal vascular morphology	80114	BICC1	ORPHA:730
HP:0025015	Abnormal vascular morphology	659	BMPR2	OMIM:178600
HP:0025015	Abnormal vascular morphology	129563	DIS3L2	OMIM:267000
HP:0025015	Abnormal vascular morphology	56006	SMG9	OMIM:616920
HP:0025015	Abnormal vascular morphology	2186	BPTF	ORPHA:529962
HP:0025015	Abnormal vascular morphology	93986	FOXP2	ORPHA:251061
HP:0025015	Abnormal vascular morphology	808	CALM3	OMIM:618782
HP:0025015	Abnormal vascular morphology	6811	STX5	OMIM:620454
HP:0025015	Abnormal vascular morphology	54892	NCAPG2	OMIM:618460
HP:0025015	Abnormal vascular morphology	81857	MED25	ORPHA:464738
HP:0025015	Abnormal vascular morphology	5567	PRKACB	OMIM:619143
HP:0025015	Abnormal vascular morphology	51780	KDM3B	OMIM:618846
HP:0025015	Abnormal vascular morphology	6091	ROBO1	OMIM:620305
HP:0025015	Abnormal vascular morphology	7086	TKT	ORPHA:488618
HP:0025015	Abnormal vascular morphology	3712	IVD	OMIM:243500
HP:0025015	Abnormal vascular morphology	5095	PCCA	OMIM:606054
HP:0025015	Abnormal vascular morphology	5096	PCCB	OMIM:606054
HP:0025015	Abnormal vascular morphology	5777	PTPN6	ORPHA:3243
HP:0025015	Abnormal vascular morphology	1776	DNASE1L3	ORPHA:36412
HP:0025015	Abnormal vascular morphology	4067	LYN	OMIM:620376
HP:0025015	Abnormal vascular morphology	80232	WDR26	OMIM:617616
HP:0025015	Abnormal vascular morphology	80232	WDR26	ORPHA:513456
HP:0025015	Abnormal vascular morphology	93627	TBCK	OMIM:616900
HP:0025015	Abnormal vascular morphology	9203	ZMYM3	OMIM:301111
HP:0025015	Abnormal vascular morphology	10525	HYOU1	OMIM:233600
HP:0025015	Abnormal vascular morphology	7317	UBA1	OMIM:301054
HP:0025015	Abnormal vascular morphology	51473	DCDC2	ORPHA:84081
HP:0025015	Abnormal vascular morphology	388015	RTL1	ORPHA:96334
HP:0025015	Abnormal vascular morphology	8788	DLK1	ORPHA:96334
HP:0025015	Abnormal vascular morphology	55384	MEG3	ORPHA:96334
HP:0025015	Abnormal vascular morphology	57466	SCAF4	OMIM:620511
HP:0025015	Abnormal vascular morphology	5518	PPP2R1A	ORPHA:457284
HP:0025015	Abnormal vascular morphology	10195	ALG3	ORPHA:79321
HP:0025015	Abnormal vascular morphology	348	APOE	ORPHA:412
HP:0025015	Abnormal vascular morphology	1581	CYP7A1	ORPHA:209902
HP:0025015	Abnormal vascular morphology	4488	MSX2	ORPHA:60015
HP:0025015	Abnormal vascular morphology	60529	ALX4	ORPHA:60015
HP:0025015	Abnormal vascular morphology	55252	ASXL2	OMIM:617190
HP:0025015	Abnormal vascular morphology	4953	ODC1	OMIM:619075
HP:0025015	Abnormal vascular morphology	4953	ODC1	ORPHA:544488
HP:0025015	Abnormal vascular morphology	6134	RPL10	OMIM:300998
HP:0025015	Abnormal vascular morphology	55768	NGLY1	OMIM:615273
HP:0025015	Abnormal vascular morphology	8294	H4C9	OMIM:619951
HP:0025015	Abnormal vascular morphology	1182	CLCN3	OMIM:619512
HP:0025015	Abnormal vascular morphology	1182	CLCN3	OMIM:619517
HP:0025015	Abnormal vascular morphology	6477	SIAH1	OMIM:619314
HP:0025015	Abnormal vascular morphology	54453	RIN2	OMIM:613075
HP:0025015	Abnormal vascular morphology	85365	ALG2	OMIM:607906
HP:0025015	Abnormal vascular morphology	5361	PLXNA1	OMIM:619955
HP:0025015	Abnormal vascular morphology	1282	COL4A1	OMIM:175780
HP:0025015	Abnormal vascular morphology	5048	PAFAH1B1	ORPHA:95232
HP:0025015	Abnormal vascular morphology	5048	PAFAH1B1	OMIM:607432
HP:0025015	Abnormal vascular morphology	3020	H3-3A	OMIM:619720
HP:0025015	Abnormal vascular morphology	7543	ZFX	OMIM:301118
HP:0025015	Abnormal vascular morphology	2752	GLUL	OMIM:620806
HP:0025015	Abnormal vascular morphology	51111	KMT5B	OMIM:617788
HP:0025015	Abnormal vascular morphology	1641	DCX	ORPHA:2148
HP:0025015	Abnormal vascular morphology	57688	ZSWIM6	OMIM:603671
HP:0025015	Abnormal vascular morphology	92949	ADAMTSL1	ORPHA:521445
HP:0025015	Abnormal vascular morphology	4907	NT5E	ORPHA:289601
HP:0025015	Abnormal vascular morphology	567	B2M	ORPHA:314652
HP:0025015	Abnormal vascular morphology	2202	EFEMP1	ORPHA:98977
HP:0025015	Abnormal vascular morphology	1545	CYP1B1	ORPHA:98977
HP:0025015	Abnormal vascular morphology	4653	MYOC	ORPHA:98977
HP:0025015	Abnormal vascular morphology	3490	IGFBP7	OMIM:614224
HP:0025015	Abnormal vascular morphology	51434	ANAPC7	OMIM:619699
HP:0025015	Abnormal vascular morphology	25981	DNAH1	ORPHA:244
HP:0025015	Abnormal vascular morphology	115948	ODAD3	ORPHA:244
HP:0025015	Abnormal vascular morphology	54768	HYDIN	ORPHA:244
HP:0025015	Abnormal vascular morphology	352909	DNAAF3	ORPHA:244
HP:0025015	Abnormal vascular morphology	27148	STK36	ORPHA:244
HP:0025015	Abnormal vascular morphology	51314	NME8	ORPHA:244
HP:0025015	Abnormal vascular morphology	92749	DRC1	ORPHA:244
HP:0025015	Abnormal vascular morphology	54970	TTC12	ORPHA:244
HP:0025015	Abnormal vascular morphology	152110	NEK10	ORPHA:244
HP:0025015	Abnormal vascular morphology	2302	FOXJ1	ORPHA:244
HP:0025015	Abnormal vascular morphology	221421	RSPH9	ORPHA:244
HP:0025015	Abnormal vascular morphology	85478	CCDC65	ORPHA:244
HP:0025015	Abnormal vascular morphology	55036	CCDC40	ORPHA:244
HP:0025015	Abnormal vascular morphology	51364	ZMYND10	ORPHA:244
HP:0025015	Abnormal vascular morphology	64446	DNAI2	ORPHA:244
HP:0025015	Abnormal vascular morphology	8382	NME5	ORPHA:244
HP:0025015	Abnormal vascular morphology	6674	SPAG1	ORPHA:244
HP:0025015	Abnormal vascular morphology	83544	DNAL1	ORPHA:244
HP:0025015	Abnormal vascular morphology	89765	RSPH1	ORPHA:244
HP:0025015	Abnormal vascular morphology	83538	ODAD4	ORPHA:244
HP:0025015	Abnormal vascular morphology	200373	CFAP221	ORPHA:244
HP:0025015	Abnormal vascular morphology	374407	DNAJB13	ORPHA:244
HP:0025015	Abnormal vascular morphology	55172	DNAAF2	ORPHA:244
HP:0025015	Abnormal vascular morphology	161582	DNAAF4	ORPHA:244
HP:0025015	Abnormal vascular morphology	2622	GAS8	ORPHA:244
HP:0025015	Abnormal vascular morphology	23639	DNAAF11	ORPHA:244
HP:0025015	Abnormal vascular morphology	27019	DNAI1	ORPHA:244
HP:0025015	Abnormal vascular morphology	345895	RSPH4A	ORPHA:244
HP:0025015	Abnormal vascular morphology	54919	DNAAF5	ORPHA:244
HP:0025015	Abnormal vascular morphology	6103	RPGR	ORPHA:244
HP:0025015	Abnormal vascular morphology	85452	CFAP74	ORPHA:244
HP:0025015	Abnormal vascular morphology	93233	ODAD1	ORPHA:244
HP:0025015	Abnormal vascular morphology	55130	ODAD2	ORPHA:244
HP:0025015	Abnormal vascular morphology	1767	DNAH5	ORPHA:244
HP:0025015	Abnormal vascular morphology	83861	RSPH3	ORPHA:244
HP:0025015	Abnormal vascular morphology	345643	MCIDAS	ORPHA:244
HP:0025015	Abnormal vascular morphology	56683	CFAP298	ORPHA:244
HP:0025015	Abnormal vascular morphology	79925	SPEF2	ORPHA:244
HP:0025015	Abnormal vascular morphology	10309	CCNO	ORPHA:244
HP:0025015	Abnormal vascular morphology	115399	LRRC56	ORPHA:244
HP:0025015	Abnormal vascular morphology	139212	DNAAF6	ORPHA:244
HP:0025015	Abnormal vascular morphology	123872	DNAAF1	ORPHA:244
HP:0025015	Abnormal vascular morphology	85016	CFAP300	ORPHA:244
HP:0025015	Abnormal vascular morphology	339829	CCDC39	ORPHA:244
HP:0025015	Abnormal vascular morphology	8701	DNAH11	ORPHA:244
HP:0025015	Abnormal vascular morphology	1770	DNAH9	ORPHA:244
HP:0025015	Abnormal vascular morphology	246176	GAS2L2	ORPHA:244
HP:0025015	Abnormal vascular morphology	2859	GPR35	ORPHA:171
HP:0025015	Abnormal vascular morphology	10507	SEMA4D	ORPHA:171
HP:0025015	Abnormal vascular morphology	4485	MST1	ORPHA:171
HP:0025015	Abnormal vascular morphology	6925	TCF4	ORPHA:171
HP:0025015	Abnormal vascular morphology	84667	HES7	OMIM:613686
HP:0025015	Abnormal vascular morphology	1906	EDN1	ORPHA:137888
HP:0025015	Abnormal vascular morphology	5332	PLCB4	ORPHA:137888
HP:0025015	Abnormal vascular morphology	2773	GNAI3	ORPHA:137888
HP:0025015	Abnormal vascular morphology	4774	NFIA	ORPHA:401986
HP:0025015	Abnormal vascular morphology	100131801	PET100	OMIM:619055
HP:0025015	Abnormal vascular morphology	92935	MARS2	OMIM:616430
HP:0025015	Abnormal vascular morphology	26047	CNTNAP2	OMIM:610042
HP:0025015	Abnormal vascular morphology	55788	LMBRD1	ORPHA:79284
HP:0025015	Abnormal vascular morphology	6678	SPARC	OMIM:616507
HP:0025015	Abnormal vascular morphology	165918	RNF168	ORPHA:420741
HP:0025015	Abnormal vascular morphology	9894	TELO2	ORPHA:488642
HP:0025015	Abnormal vascular morphology	145173	B3GLCT	ORPHA:709
HP:0025015	Abnormal vascular morphology	440275	EIF2AK4	ORPHA:199241
HP:0025015	Abnormal vascular morphology	5337	PLD1	OMIM:212093
HP:0025015	Abnormal vascular morphology	1656	DDX6	OMIM:618653
HP:0025015	Abnormal vascular morphology	5293	PIK3CD	ORPHA:221139
HP:0025015	Abnormal vascular morphology	90417	KNSTRN	ORPHA:221139
HP:0025015	Abnormal vascular morphology	5580	PRKCD	OMIM:615559
HP:0025015	Abnormal vascular morphology	1387	CREBBP	ORPHA:353277
HP:0025015	Abnormal vascular morphology	2033	EP300	ORPHA:353284
HP:0025015	Abnormal vascular morphology	58499	ZNF462	OMIM:618619
HP:0025015	Abnormal vascular morphology	2131	EXT1	ORPHA:321
HP:0025015	Abnormal vascular morphology	2132	EXT2	ORPHA:321
HP:0025015	Abnormal vascular morphology	55033	FKBP14	OMIM:614557
HP:0025015	Abnormal vascular morphology	7528	YY1	OMIM:617557
HP:0025015	Abnormal vascular morphology	168507	PKD1L1	OMIM:617205
HP:0025015	Abnormal vascular morphology	8854	ALDH1A2	OMIM:620025
HP:0025015	Abnormal vascular morphology	6326	SCN2A	ORPHA:293181
HP:0025015	Abnormal vascular morphology	57468	SLC12A5	ORPHA:293181
HP:0025015	Abnormal vascular morphology	23236	PLCB1	ORPHA:293181
HP:0025015	Abnormal vascular morphology	3785	KCNQ2	ORPHA:293181
HP:0025015	Abnormal vascular morphology	57582	KCNT1	ORPHA:293181
HP:0025015	Abnormal vascular morphology	6323	SCN1A	ORPHA:293181
HP:0025015	Abnormal vascular morphology	79751	SLC25A22	ORPHA:293181
HP:0025015	Abnormal vascular morphology	57465	TBC1D24	ORPHA:293181
HP:0025015	Abnormal vascular morphology	4351	MPI	OMIM:602579
HP:0025015	Abnormal vascular morphology	3265	HRAS	OMIM:218040
HP:0025015	Abnormal vascular morphology	79709	COLGALT1	OMIM:618360
HP:0025015	Abnormal vascular morphology	4668	NAGA	OMIM:609242
HP:0025015	Abnormal vascular morphology	3913	LAMB2	OMIM:614199
HP:0025015	Abnormal vascular morphology	6439	SFTPB	OMIM:265120
HP:0025015	Abnormal vascular morphology	490	ATP2B1	OMIM:619910
HP:0025015	Abnormal vascular morphology	11235	PDCD10	ORPHA:221061
HP:0025015	Abnormal vascular morphology	11235	PDCD10	OMIM:603285
HP:0025015	Abnormal vascular morphology	9620	CELSR1	OMIM:619319
HP:0025015	Abnormal vascular morphology	1725	DHPS	OMIM:618480
HP:0025015	Abnormal vascular morphology	875	CBS	ORPHA:394
HP:0025015	Abnormal vascular morphology	9508	ADAMTS3	ORPHA:2136
HP:0025015	Abnormal vascular morphology	147372	CCBE1	ORPHA:2136
HP:0025015	Abnormal vascular morphology	79633	FAT4	ORPHA:2136
HP:0025015	Abnormal vascular morphology	5728	PTEN	ORPHA:109
HP:0025015	Abnormal vascular morphology	5728	PTEN	ORPHA:137608
HP:0025015	Abnormal vascular morphology	672	BRCA1	ORPHA:84
HP:0025015	Abnormal vascular morphology	10459	MAD2L2	ORPHA:84
HP:0025015	Abnormal vascular morphology	7516	XRCC2	ORPHA:84
HP:0025015	Abnormal vascular morphology	29089	UBE2T	ORPHA:84
HP:0025015	Abnormal vascular morphology	675	BRCA2	ORPHA:84
HP:0025015	Abnormal vascular morphology	55120	FANCL	ORPHA:84
HP:0025015	Abnormal vascular morphology	2177	FANCD2	ORPHA:84
HP:0025015	Abnormal vascular morphology	2175	FANCA	ORPHA:84
HP:0025015	Abnormal vascular morphology	2187	FANCB	ORPHA:84
HP:0025015	Abnormal vascular morphology	2176	FANCC	ORPHA:84
HP:0025015	Abnormal vascular morphology	2178	FANCE	ORPHA:84
HP:0025015	Abnormal vascular morphology	2188	FANCF	ORPHA:84
HP:0025015	Abnormal vascular morphology	2189	FANCG	ORPHA:84
HP:0025015	Abnormal vascular morphology	5888	RAD51	ORPHA:84
HP:0025015	Abnormal vascular morphology	5889	RAD51C	ORPHA:84
HP:0025015	Abnormal vascular morphology	55159	RFWD3	ORPHA:84
HP:0025015	Abnormal vascular morphology	83990	BRIP1	ORPHA:84
HP:0025015	Abnormal vascular morphology	57697	FANCM	ORPHA:84
HP:0025015	Abnormal vascular morphology	79728	PALB2	ORPHA:84
HP:0025015	Abnormal vascular morphology	84464	SLX4	ORPHA:84
HP:0025015	Abnormal vascular morphology	2072	ERCC4	ORPHA:84
HP:0025015	Abnormal vascular morphology	55215	FANCI	ORPHA:84
HP:0025015	Abnormal vascular morphology	207	AKT1	ORPHA:744
HP:0025015	Abnormal vascular morphology	2990	GUSB	ORPHA:584
HP:0025015	Abnormal vascular morphology	7010	TEK	ORPHA:1059
HP:0025015	Abnormal vascular morphology	3516	RBPJ	ORPHA:974
HP:0025015	Abnormal vascular morphology	4851	NOTCH1	ORPHA:974
HP:0025015	Abnormal vascular morphology	57514	ARHGAP31	ORPHA:974
HP:0025015	Abnormal vascular morphology	57572	DOCK6	ORPHA:974
HP:0025015	Abnormal vascular morphology	285203	EOGT	ORPHA:974
HP:0025015	Abnormal vascular morphology	54567	DLL4	ORPHA:974
HP:0025015	Abnormal vascular morphology	2767	GNA11	ORPHA:1556
HP:0025015	Abnormal vascular morphology	151188	ARL6IP6	ORPHA:1556
HP:0025015	Abnormal vascular morphology	23299	BICD2	OMIM:618291
HP:0025015	Abnormal vascular morphology	2639	GCDH	ORPHA:25
HP:0025015	Abnormal vascular morphology	2639	GCDH	OMIM:231670
HP:0025015	Abnormal vascular morphology	1785	DNM2	OMIM:615368
HP:0025015	Abnormal vascular morphology	3703	STT3A	OMIM:619714
HP:0025015	Abnormal vascular morphology	8241	RBM10	OMIM:311900
HP:0025015	Abnormal vascular morphology	55249	YY1AP1	ORPHA:79094
HP:0025015	Abnormal vascular morphology	5290	PIK3CA	ORPHA:276280
HP:0025015	Abnormal vascular morphology	2658	GDF2	ORPHA:774
HP:0025015	Abnormal vascular morphology	94	ACVRL1	ORPHA:774
HP:0025015	Abnormal vascular morphology	4089	SMAD4	ORPHA:774
HP:0025015	Abnormal vascular morphology	2022	ENG	ORPHA:774
HP:0025015	Abnormal vascular morphology	351	APP	ORPHA:324703
HP:0025015	Abnormal vascular morphology	351	APP	ORPHA:324708
HP:0025015	Abnormal vascular morphology	5116	PCNT	ORPHA:2637
HP:0025015	Abnormal vascular morphology	9820	CUL7	ORPHA:2616
HP:0025015	Abnormal vascular morphology	23363	OBSL1	ORPHA:2616
HP:0025015	Abnormal vascular morphology	83987	CCDC8	ORPHA:2616
HP:0025015	Abnormal vascular morphology	6804	STX1A	ORPHA:904
HP:0025015	Abnormal vascular morphology	7461	CLIP2	ORPHA:904
HP:0025015	Abnormal vascular morphology	84277	DNAJC30	ORPHA:904
HP:0025015	Abnormal vascular morphology	8468	FKBP6	ORPHA:904
HP:0025015	Abnormal vascular morphology	5982	RFC2	ORPHA:904
HP:0025015	Abnormal vascular morphology	2969	GTF2I	ORPHA:904
HP:0025015	Abnormal vascular morphology	3984	LIMK1	ORPHA:904
HP:0025015	Abnormal vascular morphology	9569	GTF2IRD1	ORPHA:904
HP:0025015	Abnormal vascular morphology	155382	VPS37D	ORPHA:904
HP:0025015	Abnormal vascular morphology	155368	METTL27	ORPHA:904
HP:0025015	Abnormal vascular morphology	114049	BUD23	ORPHA:904
HP:0025015	Abnormal vascular morphology	7458	EIF4H	ORPHA:904
HP:0025015	Abnormal vascular morphology	84163	GTF2IRD2	ORPHA:904
HP:0025015	Abnormal vascular morphology	26608	TBL2	ORPHA:904
HP:0025015	Abnormal vascular morphology	653361	NCF1	ORPHA:904
HP:0025015	Abnormal vascular morphology	135886	TMEM270	ORPHA:904
HP:0025015	Abnormal vascular morphology	9031	BAZ1B	ORPHA:904
HP:0025015	Abnormal vascular morphology	2006	ELN	ORPHA:904
HP:0025015	Abnormal vascular morphology	1729	DIAPH1	ORPHA:2573
HP:0025015	Abnormal vascular morphology	59	ACTA2	ORPHA:2573
HP:0025015	Abnormal vascular morphology	57674	RNF213	ORPHA:2573
HP:0025015	Abnormal vascular morphology	7486	WRN	ORPHA:902
HP:0025015	Abnormal vascular morphology	5627	PROS1	ORPHA:743
HP:0025015	Abnormal vascular morphology	5624	PROC	ORPHA:745
HP:0025015	Abnormal vascular morphology	2776	GNAQ	ORPHA:3205
HP:0025015	Abnormal vascular morphology	56922	MCCC1	ORPHA:6
HP:0025015	Abnormal vascular morphology	64087	MCCC2	ORPHA:6
HP:0025015	Abnormal vascular morphology	2982	GUCY1A1	ORPHA:401945
HP:0025015	Abnormal vascular morphology	10019	SH2B3	ORPHA:3318
HP:0025015	Abnormal vascular morphology	811	CALR	ORPHA:3318
HP:0025015	Abnormal vascular morphology	7157	TP53	ORPHA:3318
HP:0025015	Abnormal vascular morphology	4352	MPL	ORPHA:3318
HP:0025015	Abnormal vascular morphology	3717	JAK2	ORPHA:3318
HP:0025015	Abnormal vascular morphology	54790	TET2	ORPHA:3318
HP:0025015	Abnormal vascular morphology	84168	ANTXR1	ORPHA:2067
HP:0025015	Abnormal vascular morphology	2050	EPHB4	ORPHA:1053
HP:0025015	Abnormal vascular morphology	5167	ENPP1	ORPHA:758
HP:0025015	Abnormal vascular morphology	368	ABCC6	ORPHA:758
HP:0025015	Abnormal vascular morphology	4000	LMNA	ORPHA:79474
HP:0025015	Abnormal vascular morphology	326	AIRE	ORPHA:3453
HP:0025015	Abnormal vascular morphology	5921	RASA1	ORPHA:90307
HP:0025015	Abnormal vascular morphology	6850	SYK	OMIM:619381
HP:0025015	Abnormal vascular morphology	5238	PGM3	ORPHA:443811
HP:0025015	Abnormal vascular morphology	5238	PGM3	OMIM:615816
HP:0025015	Abnormal vascular morphology	3594	IL12RB1	ORPHA:319552
HP:0025015	Abnormal vascular morphology	713	C1QB	OMIM:620321
HP:0025015	Abnormal vascular morphology	3055	HCK	OMIM:620296
HP:0025015	Abnormal vascular morphology	2304	FOXE1	ORPHA:319487
HP:0025015	Abnormal vascular morphology	3026	HABP2	ORPHA:319487
HP:0025015	Abnormal vascular morphology	9562	MINPP1	ORPHA:319487
HP:0025015	Abnormal vascular morphology	3949	LDLR	ORPHA:391665
HP:0025015	Abnormal vascular morphology	255738	PCSK9	ORPHA:391665
HP:0025015	Abnormal vascular morphology	26119	LDLRAP1	ORPHA:391665
HP:0025015	Abnormal vascular morphology	338	APOB	ORPHA:391665
HP:0025015	Abnormal vascular morphology	64240	ABCG5	ORPHA:391665
HP:0025015	Abnormal vascular morphology	64241	ABCG8	ORPHA:391665
HP:0025017	Capillary fragility	84196	USP48	ORPHA:96253
HP:0025017	Capillary fragility	7157	TP53	ORPHA:96253
HP:0025017	Capillary fragility	9101	USP8	ORPHA:96253
HP:0025017	Capillary fragility	64072	CDH23	ORPHA:96253
HP:0025017	Capillary fragility	2908	NR3C1	ORPHA:96253
HP:0025017	Capillary fragility	673	BRAF	ORPHA:96253
HP:0025017	Capillary fragility	546	ATRX	ORPHA:96253
HP:0025018	Abnormal capillary physiology	84196	USP48	ORPHA:96253
HP:0025018	Abnormal capillary physiology	7157	TP53	ORPHA:96253
HP:0025018	Abnormal capillary physiology	9101	USP8	ORPHA:96253
HP:0025018	Abnormal capillary physiology	64072	CDH23	ORPHA:96253
HP:0025018	Abnormal capillary physiology	2908	NR3C1	ORPHA:96253
HP:0025018	Abnormal capillary physiology	673	BRAF	ORPHA:96253
HP:0025018	Abnormal capillary physiology	546	ATRX	ORPHA:96253
HP:0025018	Abnormal capillary physiology	7512	XPNPEP2	ORPHA:100057
HP:0025018	Abnormal capillary physiology	3932	LCK	OMIM:615758
HP:0025018	Abnormal capillary physiology	2492	FSHR	ORPHA:64739
HP:0025019	Arterial rupture	1281	COL3A1	OMIM:130050
HP:0025019	Arterial rupture	1277	COL1A1	ORPHA:287
HP:0025019	Arterial rupture	1277	COL1A1	OMIM:619115
HP:0025019	Arterial rupture	1289	COL5A1	ORPHA:287
HP:0025019	Arterial rupture	1290	COL5A2	ORPHA:287
HP:0025019	Arterial rupture	5351	PLOD1	OMIM:225400
HP:0025019	Arterial rupture	5351	PLOD1	ORPHA:1900
HP:0025019	Arterial rupture	1278	COL1A2	OMIM:619120
HP:0025019	Arterial rupture	55033	FKBP14	ORPHA:300179
HP:0025019	Arterial rupture	8985	PLOD3	OMIM:612394
HP:0012738	Agenesis of canine	83479	DDX59	ORPHA:2919
HP:0012734	Ketotic hypoglycemia	56246	MRAP	ORPHA:361
HP:0012734	Ketotic hypoglycemia	6770	STAR	ORPHA:361
HP:0012734	Ketotic hypoglycemia	4158	MC2R	ORPHA:361
HP:0012734	Ketotic hypoglycemia	23530	NNT	ORPHA:361
HP:0012734	Ketotic hypoglycemia	10587	TXNRD2	ORPHA:361
HP:0012734	Ketotic hypoglycemia	2998	GYS2	ORPHA:2089
HP:0012734	Ketotic hypoglycemia	54148	MRPL39	OMIM:620646
HP:0012734	Ketotic hypoglycemia	5257	PHKB	ORPHA:79240
HP:0012734	Ketotic hypoglycemia	6927	HNF1A	ORPHA:324575
HP:0012734	Ketotic hypoglycemia	6566	SLC16A1	OMIM:616095
HP:0012734	Ketotic hypoglycemia	27034	ACAD8	ORPHA:79159
HP:0012734	Ketotic hypoglycemia	35	ACADS	ORPHA:26792
HP:0012735	Cough	26191	PTPN22	ORPHA:397
HP:0012735	Cough	26191	PTPN22	ORPHA:900
HP:0012735	Cough	3106	HLA-B	ORPHA:397
HP:0012735	Cough	3106	HLA-B	ORPHA:36426
HP:0012735	Cough	3123	HLA-DRB1	ORPHA:397
HP:0012735	Cough	3123	HLA-DRB1	ORPHA:797
HP:0012735	Cough	3123	HLA-DRB1	ORPHA:747
HP:0012735	Cough	3123	HLA-DRB1	OMIM:181000
HP:0012735	Cough	8974	P4HA2	ORPHA:397
HP:0012735	Cough	3561	IL2RG	ORPHA:276
HP:0012735	Cough	139212	DNAAF6	OMIM:300991
HP:0012735	Cough	2622	GAS8	OMIM:616726
HP:0012735	Cough	2057	EPOR	ORPHA:90042
HP:0012735	Cough	1776	DNASE1L3	ORPHA:36412
HP:0012735	Cough	5604	MAP2K1	ORPHA:389
HP:0012735	Cough	4893	NRAS	ORPHA:389
HP:0012735	Cough	673	BRAF	ORPHA:389
HP:0012735	Cough	727897	MUC5B	OMIM:178500
HP:0012735	Cough	727897	MUC5B	ORPHA:2032
HP:0012735	Cough	6440	SFTPC	OMIM:178500
HP:0012735	Cough	6440	SFTPC	OMIM:610913
HP:0012735	Cough	6440	SFTPC	ORPHA:2032
HP:0012735	Cough	729238	SFTPA2	OMIM:178500
HP:0012735	Cough	729238	SFTPA2	ORPHA:2032
HP:0012735	Cough	7015	TERT	OMIM:178500
HP:0012735	Cough	7015	TERT	ORPHA:2032
HP:0012735	Cough	7015	TERT	OMIM:614742
HP:0012735	Cough	4141	MARS1	OMIM:615486
HP:0012735	Cough	440275	EIF2AK4	OMIM:234810
HP:0012735	Cough	146845	CFAP52	OMIM:619607
HP:0012735	Cough	388389	DNAAF19	OMIM:614679
HP:0012735	Cough	7248	TSC1	ORPHA:538
HP:0012735	Cough	7249	TSC2	ORPHA:538
HP:0012735	Cough	3119	HLA-DQB1	ORPHA:930
HP:0012735	Cough	9244	CRLF1	ORPHA:930
HP:0012735	Cough	3117	HLA-DQA1	ORPHA:930
HP:0012735	Cough	4842	NOS1	ORPHA:930
HP:0012735	Cough	9663	LPIN2	ORPHA:77297
HP:0012735	Cough	10320	IKZF1	ORPHA:36426
HP:0012735	Cough	1439	CSF2RB	ORPHA:264675
HP:0012735	Cough	1438	CSF2RA	ORPHA:264675
HP:0012735	Cough	6772	STAT1	OMIM:614162
HP:0012735	Cough	653509	SFTPA1	OMIM:619611
HP:0012735	Cough	653509	SFTPA1	ORPHA:2032
HP:0012735	Cough	6774	STAT3	ORPHA:2314
HP:0012735	Cough	79991	STN1	ORPHA:2032
HP:0012735	Cough	21	ABCA3	ORPHA:2032
HP:0012735	Cough	21	ABCA3	OMIM:610921
HP:0012735	Cough	1832	DSP	ORPHA:2032
HP:0012735	Cough	10144	FAM13A	ORPHA:2032
HP:0012735	Cough	23250	ATP11A	ORPHA:2032
HP:0012735	Cough	91039	DPP9	ORPHA:2032
HP:0012735	Cough	51750	RTEL1	ORPHA:2032
HP:0012735	Cough	7012	TERC	ORPHA:2032
HP:0012735	Cough	5073	PARN	ORPHA:2032
HP:0012735	Cough	5073	PARN	OMIM:616371
HP:0012735	Cough	3431	SP110	ORPHA:79124
HP:0012735	Cough	659	BMPR2	OMIM:178600
HP:0012735	Cough	254428	SLC41A1	OMIM:619468
HP:0012735	Cough	115399	LRRC56	OMIM:618254
HP:0012735	Cough	84818	IL17RC	ORPHA:1334
HP:0012735	Cough	64581	CLEC7A	ORPHA:1334
HP:0012735	Cough	23765	IL17RA	ORPHA:1334
HP:0012735	Cough	10758	TRAF3IP2	ORPHA:1334
HP:0012735	Cough	112744	IL17F	ORPHA:1334
HP:0012735	Cough	5981	RFC1	OMIM:614575
HP:0012735	Cough	5376	PMP22	ORPHA:90658
HP:0012735	Cough	56244	BTNL2	ORPHA:797
HP:0012735	Cough	55036	CCDC40	OMIM:613808
HP:0012735	Cough	339829	CCDC39	OMIM:613807
HP:0012735	Cough	10558	SPTLC1	ORPHA:36386
HP:0012735	Cough	25923	ATL3	ORPHA:36386
HP:0012735	Cough	9517	SPTLC2	ORPHA:36386
HP:0012735	Cough	51062	ATL1	ORPHA:36386
HP:0012735	Cough	1770	DNAH9	OMIM:618300
HP:0012735	Cough	5265	SERPINA1	OMIM:613490
HP:0012735	Cough	54914	FOCAD	OMIM:619991
HP:0012735	Cough	4519	MT-CYB	ORPHA:137675
HP:0012735	Cough	64446	DNAI2	OMIM:612444
HP:0012735	Cough	6049	RNF6	ORPHA:99977
HP:0012735	Cough	7048	TGFBR2	ORPHA:99977
HP:0012735	Cough	51741	WWOX	ORPHA:99977
HP:0012735	Cough	9940	DLEC1	ORPHA:99977
HP:0012735	Cough	10056	FARSB	OMIM:613658
HP:0012735	Cough	1493	CTLA4	ORPHA:900
HP:0012735	Cough	3115	HLA-DPB1	ORPHA:900
HP:0012735	Cough	3115	HLA-DPB1	ORPHA:133
HP:0012735	Cough	5657	PRTN3	ORPHA:900
HP:0012735	Cough	3113	HLA-DPA1	ORPHA:900
HP:0012735	Cough	29926	GMPPA	ORPHA:869
HP:0012735	Cough	60684	TRAPPC11	ORPHA:869
HP:0012735	Cough	8086	AAAS	ORPHA:869
HP:0012735	Cough	6340	SCNN1G	ORPHA:171876
HP:0012735	Cough	6337	SCNN1A	ORPHA:171876
HP:0012735	Cough	6338	SCNN1B	ORPHA:171876
HP:0012735	Cough	10585	POMT1	ORPHA:86812
HP:0012735	Cough	1314	COPA	OMIM:616414
HP:0012735	Cough	10342	TFG	ORPHA:90117
HP:0012735	Cough	8701	DNAH11	OMIM:611884
HP:0012735	Cough	3662	IRF4	ORPHA:3452
HP:0012735	Cough	10551	AGR2	OMIM:620233
HP:0012735	Cough	8314	BAP1	ORPHA:50251
HP:0012735	Cough	38	ACAT1	ORPHA:134
HP:0012735	Cough	2193	FARSA	OMIM:619013
HP:0012735	Cough	5557	PRIM1	OMIM:620005
HP:0012735	Cough	1536	CYBB	OMIM:306400
HP:0012735	Cough	2629	GBA1	OMIM:230900
HP:0012735	Cough	80025	PANK2	ORPHA:216866
HP:0012735	Cough	115948	ODAD3	OMIM:616037
HP:0012735	Cough	7080	NKX2-1	OMIM:610978
HP:0012735	Cough	1288	COL4A6	ORPHA:1018
HP:0012735	Cough	1287	COL4A5	ORPHA:1018
HP:0012735	Cough	6929	TCF3	ORPHA:33110
HP:0012735	Cough	7922	SLC39A7	ORPHA:33110
HP:0012735	Cough	973	CD79A	ORPHA:33110
HP:0012735	Cough	974	CD79B	ORPHA:33110
HP:0012735	Cough	6688	SPI1	ORPHA:33110
HP:0012735	Cough	3543	IGLL1	ORPHA:33110
HP:0012735	Cough	3507	IGHM	ORPHA:33110
HP:0012735	Cough	29760	BLNK	ORPHA:33110
HP:0012735	Cough	5295	PIK3R1	ORPHA:33110
HP:0012735	Cough	56262	LRRC8A	ORPHA:33110
HP:0012735	Cough	25981	DNAH1	ORPHA:244
HP:0012735	Cough	54768	HYDIN	ORPHA:244
HP:0012735	Cough	352909	DNAAF3	ORPHA:244
HP:0012735	Cough	27148	STK36	ORPHA:244
HP:0012735	Cough	51314	NME8	ORPHA:244
HP:0012735	Cough	92749	DRC1	ORPHA:244
HP:0012735	Cough	54970	TTC12	ORPHA:244
HP:0012735	Cough	152110	NEK10	ORPHA:244
HP:0012735	Cough	8481	OFD1	ORPHA:244
HP:0012735	Cough	2302	FOXJ1	ORPHA:244
HP:0012735	Cough	2302	FOXJ1	OMIM:618699
HP:0012735	Cough	221421	RSPH9	ORPHA:244
HP:0012735	Cough	85478	CCDC65	ORPHA:244
HP:0012735	Cough	51364	ZMYND10	ORPHA:244
HP:0012735	Cough	8382	NME5	ORPHA:244
HP:0012735	Cough	6674	SPAG1	ORPHA:244
HP:0012735	Cough	83544	DNAL1	ORPHA:244
HP:0012735	Cough	89765	RSPH1	ORPHA:244
HP:0012735	Cough	83538	ODAD4	ORPHA:244
HP:0012735	Cough	83538	ODAD4	OMIM:617092
HP:0012735	Cough	200373	CFAP221	ORPHA:244
HP:0012735	Cough	374407	DNAJB13	ORPHA:244
HP:0012735	Cough	55172	DNAAF2	ORPHA:244
HP:0012735	Cough	161582	DNAAF4	ORPHA:244
HP:0012735	Cough	161582	DNAAF4	OMIM:615482
HP:0012735	Cough	23639	DNAAF11	ORPHA:244
HP:0012735	Cough	27019	DNAI1	ORPHA:244
HP:0012735	Cough	345895	RSPH4A	ORPHA:244
HP:0012735	Cough	54919	DNAAF5	ORPHA:244
HP:0012735	Cough	6103	RPGR	ORPHA:244
HP:0012735	Cough	85452	CFAP74	ORPHA:244
HP:0012735	Cough	93233	ODAD1	ORPHA:244
HP:0012735	Cough	93233	ODAD1	OMIM:615067
HP:0012735	Cough	55130	ODAD2	ORPHA:244
HP:0012735	Cough	55130	ODAD2	OMIM:615451
HP:0012735	Cough	1767	DNAH5	ORPHA:244
HP:0012735	Cough	83861	RSPH3	ORPHA:244
HP:0012735	Cough	345643	MCIDAS	ORPHA:244
HP:0012735	Cough	56683	CFAP298	ORPHA:244
HP:0012735	Cough	79925	SPEF2	ORPHA:244
HP:0012735	Cough	10309	CCNO	ORPHA:244
HP:0012735	Cough	123872	DNAAF1	ORPHA:244
HP:0012735	Cough	85016	CFAP300	ORPHA:244
HP:0012735	Cough	85016	CFAP300	OMIM:618063
HP:0012735	Cough	246176	GAS2L2	ORPHA:244
HP:0012735	Cough	5371	PML	ORPHA:520
HP:0012735	Cough	5914	RARA	ORPHA:520
HP:0012735	Cough	359948	IRF2BP2	ORPHA:520
HP:0012735	Cough	81608	FIP1L1	ORPHA:520
HP:0012735	Cough	4869	NPM1	ORPHA:520
HP:0012735	Cough	5573	PRKAR1A	ORPHA:520
HP:0012735	Cough	54880	BCOR	ORPHA:520
HP:0012735	Cough	64859	NABP1	ORPHA:520
HP:0012735	Cough	6777	STAT5B	ORPHA:520
HP:0012735	Cough	4926	NUMA1	ORPHA:520
HP:0012735	Cough	7704	ZBTB16	ORPHA:520
HP:0012735	Cough	79718	TBL1XR1	ORPHA:520
HP:0012735	Cough	1080	CFTR	ORPHA:60033
HP:0012735	Cough	23568	ARL2BP	OMIM:615434
HP:0012735	Cough	54014	BRWD1	OMIM:620438
HP:0012735	Cough	10568	SLC34A2	ORPHA:60025
HP:0012735	Cough	25913	POT1	OMIM:620367
HP:0012735	Cough	4359	MPZ	OMIM:607736
HP:0012735	Cough	5971	RELB	OMIM:617585
HP:0012735	Cough	164781	DAW1	OMIM:620570
HP:0012736	Profound global developmental delay	91949	COG7	OMIM:608779
HP:0012736	Profound global developmental delay	10785	WDR4	OMIM:618346
HP:0012736	Profound global developmental delay	343450	KCNT2	OMIM:617771
HP:0012736	Profound global developmental delay	23334	SZT2	OMIM:615476
HP:0012736	Profound global developmental delay	132	ADK	OMIM:614300
HP:0012736	Profound global developmental delay	64857	PLEKHG2	OMIM:616763
HP:0012736	Profound global developmental delay	4762	NEUROG1	OMIM:620469
HP:0012736	Profound global developmental delay	9254	CACNA2D2	OMIM:618501
HP:0012736	Profound global developmental delay	116115	ZNF526	OMIM:619877
HP:0012736	Profound global developmental delay	285175	UNC80	OMIM:616801
HP:0012736	Profound global developmental delay	25977	NECAP1	OMIM:615833
HP:0012736	Profound global developmental delay	781	CACNA2D1	OMIM:620149
HP:0012736	Profound global developmental delay	8364	H4C3	OMIM:619758
HP:0012736	Profound global developmental delay	10667	FARS2	OMIM:614946
HP:0012736	Profound global developmental delay	132158	GLYCTK	ORPHA:941
HP:0012736	Profound global developmental delay	64220	STRA6	OMIM:601186
HP:0012736	Profound global developmental delay	2258	FGF13	OMIM:301058
HP:0012736	Profound global developmental delay	128869	PIGU	OMIM:618590
HP:0012736	Profound global developmental delay	5631	PRPS1	ORPHA:423479
HP:0012736	Profound global developmental delay	6558	SLC12A2	OMIM:619080
HP:0012736	Profound global developmental delay	10479	SLC9A6	OMIM:300243
HP:0012736	Profound global developmental delay	2222	FDFT1	OMIM:618156
HP:0012736	Profound global developmental delay	60558	GUF1	OMIM:617065
HP:0012736	Profound global developmental delay	64801	ARV1	OMIM:617020
HP:0012736	Profound global developmental delay	122961	ISCA2	OMIM:616370
HP:0012736	Profound global developmental delay	5649	RELN	ORPHA:89844
HP:0012736	Profound global developmental delay	10300	KATNB1	ORPHA:89844
HP:0012736	Profound global developmental delay	54820	NDE1	ORPHA:89844
HP:0012736	Profound global developmental delay	54820	NDE1	OMIM:605013
HP:0012736	Profound global developmental delay	5859	QARS1	OMIM:615760
HP:0012736	Profound global developmental delay	387787	LIPT2	OMIM:617668
HP:0012736	Profound global developmental delay	56947	MFF	ORPHA:485421
HP:0012736	Profound global developmental delay	4976	OPA1	OMIM:616896
HP:0012736	Profound global developmental delay	55704	CCDC88A	OMIM:617507
HP:0012736	Profound global developmental delay	57038	RARS2	OMIM:611523
HP:0012736	Profound global developmental delay	25973	PARS2	OMIM:618437
HP:0012736	Profound global developmental delay	57582	KCNT1	OMIM:614959
HP:0012736	Profound global developmental delay	170302	ARX	OMIM:300215
HP:0012736	Profound global developmental delay	284098	PIGW	OMIM:616025
HP:0012736	Profound global developmental delay	440	ASNS	OMIM:615574
HP:0012736	Profound global developmental delay	2902	GRIN1	OMIM:619814
HP:0012736	Profound global developmental delay	2902	GRIN1	ORPHA:208447
HP:0012736	Profound global developmental delay	3785	KCNQ2	ORPHA:439218
HP:0012736	Profound global developmental delay	7965	AIMP2	OMIM:618006
HP:0012736	Profound global developmental delay	93627	TBCK	OMIM:616900
HP:0012736	Profound global developmental delay	23325	WASHC4	OMIM:615817
HP:0012736	Profound global developmental delay	64116	SLC39A8	ORPHA:468699
HP:0012736	Profound global developmental delay	9570	GOSR2	OMIM:620166
HP:0012736	Profound global developmental delay	546	ATRX	ORPHA:847
HP:0012736	Profound global developmental delay	29968	PSAT1	ORPHA:284417
HP:0012736	Profound global developmental delay	23258	DENND5A	OMIM:617281
HP:0012736	Profound global developmental delay	2009	EML1	OMIM:600348
HP:0012736	Profound global developmental delay	58497	PRUNE1	OMIM:617481
HP:0012736	Profound global developmental delay	25930	PTPN23	OMIM:618890
HP:0012736	Profound global developmental delay	5277	PIGA	OMIM:300868
HP:0012736	Profound global developmental delay	3658	IREB2	OMIM:618451
HP:0012736	Profound global developmental delay	2903	GRIN2A	ORPHA:289266
HP:0012736	Profound global developmental delay	2752	GLUL	OMIM:620806
HP:0012736	Profound global developmental delay	667	DST	OMIM:614653
HP:0012736	Profound global developmental delay	6785	ELOVL4	OMIM:614457
HP:0012736	Profound global developmental delay	9419	CRIPT	OMIM:615789
HP:0012736	Profound global developmental delay	55670	PEX26	ORPHA:912
HP:0012736	Profound global developmental delay	5824	PEX19	ORPHA:912
HP:0012736	Profound global developmental delay	5828	PEX2	ORPHA:912
HP:0012736	Profound global developmental delay	8504	PEX3	ORPHA:912
HP:0012736	Profound global developmental delay	8799	PEX11B	ORPHA:912
HP:0012736	Profound global developmental delay	9409	PEX16	ORPHA:912
HP:0012736	Profound global developmental delay	5190	PEX6	ORPHA:912
HP:0012736	Profound global developmental delay	5830	PEX5	ORPHA:912
HP:0012736	Profound global developmental delay	5189	PEX1	ORPHA:912
HP:0012736	Profound global developmental delay	5193	PEX12	ORPHA:912
HP:0012736	Profound global developmental delay	5194	PEX13	ORPHA:912
HP:0012736	Profound global developmental delay	5195	PEX14	ORPHA:912
HP:0012736	Profound global developmental delay	5192	PEX10	ORPHA:912
HP:0012736	Profound global developmental delay	26040	SETBP1	ORPHA:798
HP:0012731	Ectopic anterior pituitary gland	5626	PROP1	ORPHA:95494
HP:0012731	Ectopic anterior pituitary gland	5626	PROP1	ORPHA:90695
HP:0012731	Ectopic anterior pituitary gland	2736	GLI2	ORPHA:95494
HP:0012731	Ectopic anterior pituitary gland	89884	LHX4	ORPHA:95494
HP:0012731	Ectopic anterior pituitary gland	3170	FOXA2	ORPHA:95494
HP:0012731	Ectopic anterior pituitary gland	5449	POU1F1	ORPHA:95494
HP:0012731	Ectopic anterior pituitary gland	8820	HESX1	ORPHA:95494
HP:0012731	Ectopic anterior pituitary gland	5015	OTX2	ORPHA:95494
HP:0012731	Ectopic anterior pituitary gland	8312	AXIN1	OMIM:620558
HP:0012731	Ectopic anterior pituitary gland	6658	SOX3	ORPHA:90695
HP:0012732	Anorectal anomaly	9361	LONP1	OMIM:600373
HP:0012732	Anorectal anomaly	92002	CCNQ	OMIM:300707
HP:0012732	Anorectal anomaly	8195	MKKS	OMIM:236700
HP:0012732	Anorectal anomaly	3588	IL10RB	OMIM:612567
HP:0012732	Anorectal anomaly	3110	MNX1	OMIM:176450
HP:0012732	Anorectal anomaly	10653	SPINT2	OMIM:270420
HP:0012732	Anorectal anomaly	84172	POLR1B	ORPHA:861
HP:0012732	Anorectal anomaly	9533	POLR1C	ORPHA:861
HP:0012732	Anorectal anomaly	51082	POLR1D	ORPHA:861
HP:0012732	Anorectal anomaly	6949	TCOF1	ORPHA:861
HP:0012732	Anorectal anomaly	9401	RECQL4	OMIM:218600
HP:0012732	Anorectal anomaly	197131	UBR1	OMIM:243800
HP:0012732	Anorectal anomaly	6299	SALL1	OMIM:107480
HP:0012732	Anorectal anomaly	6299	SALL1	ORPHA:857
HP:0012732	Anorectal anomaly	267010	RNU12	OMIM:603116
HP:0012732	Anorectal anomaly	374654	KIF7	OMIM:200990
HP:0012732	Anorectal anomaly	51339	DACT1	OMIM:617466
HP:0012732	Anorectal anomaly	51339	DACT1	ORPHA:857
HP:0012732	Anorectal anomaly	1642	DDB1	OMIM:619426
HP:0012732	Anorectal anomaly	3718	JAK3	ORPHA:35078
HP:0012732	Anorectal anomaly	158326	FREM1	OMIM:608980
HP:0012732	Anorectal anomaly	55650	PIGV	OMIM:239300
HP:0012732	Anorectal anomaly	54539	NDUFB11	ORPHA:2556
HP:0012732	Anorectal anomaly	1349	COX7B	ORPHA:2556
HP:0012732	Anorectal anomaly	3052	HCCS	ORPHA:2556
HP:0012732	Anorectal anomaly	54808	DYM	OMIM:223800
HP:0012732	Anorectal anomaly	6197	RPS6KA3	OMIM:303600
HP:0012732	Anorectal anomaly	3981	LIG4	ORPHA:235
HP:0012732	Anorectal anomaly	54888	NSUN2	ORPHA:235
HP:0012732	Anorectal anomaly	4629	MYH11	OMIM:619350
HP:0012732	Anorectal anomaly	1080	CFTR	OMIM:219700
HP:0012732	Anorectal anomaly	1080	CFTR	ORPHA:586
HP:0012732	Anorectal anomaly	2212	FCGR2A	OMIM:219700
HP:0012732	Anorectal anomaly	7040	TGFB1	OMIM:219700
HP:0012732	Anorectal anomaly	7040	TGFB1	ORPHA:586
HP:0012732	Anorectal anomaly	54880	BCOR	OMIM:309800
HP:0012732	Anorectal anomaly	8260	NAA10	OMIM:309800
HP:0012732	Anorectal anomaly	657	BMPR1A	OMIM:174900
HP:0012732	Anorectal anomaly	657	BMPR1A	ORPHA:79076
HP:0012732	Anorectal anomaly	4089	SMAD4	OMIM:174900
HP:0012732	Anorectal anomaly	54496	PRMT7	OMIM:617157
HP:0012732	Anorectal anomaly	4000	LMNA	OMIM:619793
HP:0012732	Anorectal anomaly	3643	INSR	OMIM:246200
HP:0012732	Anorectal anomaly	3643	INSR	ORPHA:508
HP:0012732	Anorectal anomaly	8425	LTBP4	OMIM:613177
HP:0012732	Anorectal anomaly	6804	STX1A	ORPHA:904
HP:0012732	Anorectal anomaly	6804	STX1A	ORPHA:586
HP:0012732	Anorectal anomaly	7461	CLIP2	ORPHA:904
HP:0012732	Anorectal anomaly	84277	DNAJC30	ORPHA:904
HP:0012732	Anorectal anomaly	8468	FKBP6	ORPHA:904
HP:0012732	Anorectal anomaly	5982	RFC2	ORPHA:904
HP:0012732	Anorectal anomaly	2969	GTF2I	ORPHA:904
HP:0012732	Anorectal anomaly	3984	LIMK1	ORPHA:904
HP:0012732	Anorectal anomaly	9569	GTF2IRD1	ORPHA:904
HP:0012732	Anorectal anomaly	155382	VPS37D	ORPHA:904
HP:0012732	Anorectal anomaly	155368	METTL27	ORPHA:904
HP:0012732	Anorectal anomaly	114049	BUD23	ORPHA:904
HP:0012732	Anorectal anomaly	7458	EIF4H	ORPHA:904
HP:0012732	Anorectal anomaly	84163	GTF2IRD2	ORPHA:904
HP:0012732	Anorectal anomaly	26608	TBL2	ORPHA:904
HP:0012732	Anorectal anomaly	653361	NCF1	ORPHA:904
HP:0012732	Anorectal anomaly	135886	TMEM270	ORPHA:904
HP:0012732	Anorectal anomaly	9031	BAZ1B	ORPHA:904
HP:0012732	Anorectal anomaly	2006	ELN	ORPHA:904
HP:0012732	Anorectal anomaly	2006	ELN	OMIM:194050
HP:0012732	Anorectal anomaly	6794	STK11	OMIM:175200
HP:0012732	Anorectal anomaly	6794	STK11	ORPHA:2869
HP:0012732	Anorectal anomaly	147372	CCBE1	OMIM:235510
HP:0012732	Anorectal anomaly	2202	EFEMP1	OMIM:620780
HP:0012732	Anorectal anomaly	1277	COL1A1	ORPHA:287
HP:0012732	Anorectal anomaly	1289	COL5A1	ORPHA:287
HP:0012732	Anorectal anomaly	1290	COL5A2	ORPHA:287
HP:0012732	Anorectal anomaly	2947	GSTM3	ORPHA:586
HP:0012732	Anorectal anomaly	2729	GCLC	ORPHA:586
HP:0012732	Anorectal anomaly	1084	CEACAM3	ORPHA:586
HP:0012732	Anorectal anomaly	6556	SLC11A1	ORPHA:586
HP:0012732	Anorectal anomaly	51164	DCTN4	ORPHA:586
HP:0012732	Anorectal anomaly	3783	KCNN4	ORPHA:586
HP:0012732	Anorectal anomaly	4282	MIF	ORPHA:586
HP:0012732	Anorectal anomaly	1909	EDNRA	ORPHA:586
HP:0012732	Anorectal anomaly	6550	SLC9A3	ORPHA:586
HP:0012732	Anorectal anomaly	3162	HMOX1	ORPHA:586
HP:0012732	Anorectal anomaly	115019	SLC26A9	ORPHA:586
HP:0012732	Anorectal anomaly	3077	HFE	ORPHA:586
HP:0012732	Anorectal anomaly	11254	SLC6A14	ORPHA:586
HP:0012732	Anorectal anomaly	5265	SERPINA1	ORPHA:586
HP:0012732	Anorectal anomaly	22802	CLCA4	ORPHA:586
HP:0012732	Anorectal anomaly	4680	CEACAM6	ORPHA:586
HP:0012732	Anorectal anomaly	6774	STAT3	OMIM:147060
HP:0012732	Anorectal anomaly	7543	ZFX	OMIM:301118
HP:0012732	Anorectal anomaly	5728	PTEN	ORPHA:79076
HP:0012732	Anorectal anomaly	51085	MLXIPL	OMIM:194050
HP:0012732	Anorectal anomaly	1024	CDK8	OMIM:618748
HP:0012732	Anorectal anomaly	4688	NCF2	OMIM:233710
HP:0012732	Anorectal anomaly	81839	VANGL1	OMIM:600145
HP:0012732	Anorectal anomaly	3507	IGHM	OMIM:601495
HP:0012732	Anorectal anomaly	3689	ITGB2	OMIM:116920
HP:0012732	Anorectal anomaly	1536	CYBB	OMIM:306400
HP:0012732	Anorectal anomaly	5297	PI4KA	ORPHA:436252
HP:0012732	Anorectal anomaly	57217	TTC7A	ORPHA:436252
HP:0012732	Anorectal anomaly	1535	CYBA	OMIM:233690
HP:0012732	Anorectal anomaly	5880	RAC2	OMIM:608203
HP:0012732	Anorectal anomaly	57167	SALL4	ORPHA:233
HP:0012732	Anorectal anomaly	9935	MAFB	ORPHA:233
HP:0012732	Anorectal anomaly	1123	CHN1	ORPHA:233
HP:0012732	Anorectal anomaly	341640	FREM2	ORPHA:2052
HP:0012732	Anorectal anomaly	80144	FRAS1	ORPHA:2052
HP:0012732	Anorectal anomaly	23426	GRIP1	ORPHA:2052
HP:0012732	Anorectal anomaly	80169	CTC1	ORPHA:1775
HP:0012732	Anorectal anomaly	26277	TINF2	ORPHA:1775
HP:0012732	Anorectal anomaly	55651	NHP2	ORPHA:1775
HP:0012732	Anorectal anomaly	79650	USB1	ORPHA:1775
HP:0012732	Anorectal anomaly	55135	WRAP53	ORPHA:1775
HP:0012732	Anorectal anomaly	51750	RTEL1	ORPHA:1775
HP:0012732	Anorectal anomaly	4869	NPM1	ORPHA:1775
HP:0012732	Anorectal anomaly	7012	TERC	ORPHA:1775
HP:0012732	Anorectal anomaly	55505	NOP10	ORPHA:1775
HP:0012732	Anorectal anomaly	5073	PARN	ORPHA:1775
HP:0012732	Anorectal anomaly	7015	TERT	ORPHA:1775
HP:0012732	Anorectal anomaly	1736	DKC1	ORPHA:1775
HP:0012732	Anorectal anomaly	7298	TYMS	ORPHA:1775
HP:0012732	Anorectal anomaly	8085	KMT2D	ORPHA:2322
HP:0012732	Anorectal anomaly	7403	KDM6A	ORPHA:2322
HP:0012732	Anorectal anomaly	4683	NBN	ORPHA:647
HP:0012732	Anorectal anomaly	1312	COMT	ORPHA:567
HP:0012732	Anorectal anomaly	221037	JMJD1C	ORPHA:567
HP:0012732	Anorectal anomaly	2812	GP1BB	ORPHA:567
HP:0012732	Anorectal anomaly	6239	RREB1	ORPHA:567
HP:0012732	Anorectal anomaly	6899	TBX1	ORPHA:567
HP:0012732	Anorectal anomaly	7290	HIRA	ORPHA:567
HP:0012732	Anorectal anomaly	9632	SEC24C	ORPHA:567
HP:0012732	Anorectal anomaly	7353	UFD1	ORPHA:567
HP:0012732	Anorectal anomaly	421	ARVCF	ORPHA:567
HP:0012732	Anorectal anomaly	3239	HOXD13	ORPHA:887
HP:0012732	Anorectal anomaly	5889	RAD51C	OMIM:613390
HP:0012732	Anorectal anomaly	26123	TCTN3	ORPHA:2753
HP:0012732	Anorectal anomaly	55593	OTUD5	OMIM:301056
HP:0012732	Anorectal anomaly	23556	PIGN	ORPHA:280633
HP:0012732	Anorectal anomaly	4281	MID1	OMIM:300000
HP:0012732	Anorectal anomaly	6730	SRP68	OMIM:620534
HP:0012732	Anorectal anomaly	1794	DOCK2	OMIM:616433
HP:0012732	Anorectal anomaly	4072	EPCAM	ORPHA:144
HP:0012732	Anorectal anomaly	4292	MLH1	ORPHA:144
HP:0012732	Anorectal anomaly	5395	PMS2	ORPHA:144
HP:0012732	Anorectal anomaly	7048	TGFBR2	ORPHA:144
HP:0012732	Anorectal anomaly	3845	KRAS	ORPHA:144
HP:0012732	Anorectal anomaly	5290	PIK3CA	ORPHA:144
HP:0012732	Anorectal anomaly	2956	MSH6	ORPHA:144
HP:0012732	Anorectal anomaly	2956	MSH6	OMIM:619097
HP:0012732	Anorectal anomaly	5378	PMS1	ORPHA:144
HP:0012732	Anorectal anomaly	4436	MSH2	ORPHA:144
HP:0012732	Anorectal anomaly	8313	AXIN2	ORPHA:401911
HP:0012732	Anorectal anomaly	6389	SDHA	ORPHA:44890
HP:0012732	Anorectal anomaly	6390	SDHB	ORPHA:44890
HP:0012732	Anorectal anomaly	6391	SDHC	ORPHA:44890
HP:0012732	Anorectal anomaly	5156	PDGFRA	ORPHA:44890
HP:0012732	Anorectal anomaly	3815	KIT	ORPHA:44890
HP:0012732	Anorectal anomaly	26585	GREM1	ORPHA:157794
HP:0012732	Anorectal anomaly	4913	NTHL1	ORPHA:454840
HP:0012732	Anorectal anomaly	64218	SEMA4A	ORPHA:440437
HP:0012732	Anorectal anomaly	472	ATM	ORPHA:440437
HP:0012732	Anorectal anomaly	5426	POLE	ORPHA:440437
HP:0012732	Anorectal anomaly	5426	POLE	ORPHA:447877
HP:0012732	Anorectal anomaly	675	BRCA2	ORPHA:440437
HP:0012732	Anorectal anomaly	6224	RPS20	ORPHA:440437
HP:0012732	Anorectal anomaly	4595	MUTYH	ORPHA:440437
HP:0012732	Anorectal anomaly	5424	POLD1	ORPHA:440437
HP:0012732	Anorectal anomaly	5424	POLD1	ORPHA:447877
HP:0012732	Anorectal anomaly	11200	CHEK2	ORPHA:440437
HP:0012732	Anorectal anomaly	11200	CHEK2	ORPHA:524
HP:0012732	Anorectal anomaly	4437	MSH3	ORPHA:480536
HP:0012732	Anorectal anomaly	5573	PRKAR1A	ORPHA:1359
HP:0012732	Anorectal anomaly	50940	PDE11A	ORPHA:1359
HP:0012732	Anorectal anomaly	7157	TP53	ORPHA:524
HP:0012732	Anorectal anomaly	1029	CDKN2A	ORPHA:524
HP:0012732	Anorectal anomaly	4193	MDM2	ORPHA:524
HP:0012732	Anorectal anomaly	2022	ENG	ORPHA:329971
HP:0012732	Anorectal anomaly	10483	SEC23B	ORPHA:201
HP:0012732	Anorectal anomaly	6392	SDHD	ORPHA:201
HP:0012732	Anorectal anomaly	207	AKT1	ORPHA:201
HP:0012732	Anorectal anomaly	205717	USF3	ORPHA:201
HP:0012732	Anorectal anomaly	100144748	KLLN	ORPHA:201
HP:0012732	Anorectal anomaly	54894	RNF43	ORPHA:157798
HP:0012732	Anorectal anomaly	324	APC	OMIM:135290
HP:0012732	Anorectal anomaly	9817	KEAP1	ORPHA:276399
HP:0012732	Anorectal anomaly	23405	DICER1	ORPHA:276399
HP:0012733	Macule	3479	IGF1	ORPHA:73272
HP:0012733	Macule	8036	SHOC2	OMIM:607721
HP:0012733	Macule	8367	H4C5	OMIM:619950
HP:0012733	Macule	4683	NBN	OMIM:251260
HP:0012733	Macule	55240	STEAP3	OMIM:615234
HP:0012733	Macule	55240	STEAP3	ORPHA:300298
HP:0012733	Macule	55654	TMEM127	OMIM:171300
HP:0012733	Macule	4149	MAX	OMIM:171300
HP:0012733	Macule	5979	RET	OMIM:171300
HP:0012733	Macule	7428	VHL	OMIM:171300
HP:0012733	Macule	161742	SPRED1	OMIM:611431
HP:0012733	Macule	5894	RAF1	OMIM:611554
HP:0012733	Macule	5894	RAF1	OMIM:611553
HP:0012733	Macule	3659	IRF1	OMIM:620668
HP:0012733	Macule	324	APC	ORPHA:99818
HP:0012733	Macule	64682	ANAPC1	OMIM:618625
HP:0012733	Macule	4076	CAPRIN1	OMIM:620782
HP:0012733	Macule	10060	ABCC9	OMIM:619719
HP:0012733	Macule	6548	SLC9A1	OMIM:616291
HP:0012733	Macule	197131	UBR1	OMIM:243800
HP:0012733	Macule	220296	HEPACAM	ORPHA:210548
HP:0012733	Macule	2175	FANCA	OMIM:227650
HP:0012733	Macule	55215	FANCI	OMIM:609053
HP:0012733	Macule	4893	NRAS	OMIM:613224
HP:0012733	Macule	472	ATM	OMIM:208900
HP:0012733	Macule	2188	FANCF	OMIM:603467
HP:0012733	Macule	284058	KANSL1	ORPHA:363958
HP:0012733	Macule	284058	KANSL1	ORPHA:363965
HP:0012733	Macule	54543	TOMM7	OMIM:620601
HP:0012733	Macule	3481	IGF2	OMIM:180860
HP:0012733	Macule	3481	IGF2	ORPHA:397590
HP:0012733	Macule	2178	FANCE	OMIM:600901
HP:0012733	Macule	7156	TOP3A	OMIM:618097
HP:0012733	Macule	2475	MTOR	ORPHA:457485
HP:0012733	Macule	2475	MTOR	OMIM:616638
HP:0012733	Macule	6663	SOX10	OMIM:611584
HP:0012733	Macule	51729	WBP11	OMIM:619227
HP:0012733	Macule	5116	PCNT	OMIM:210720
HP:0012733	Macule	6874	TAF4	OMIM:620450
HP:0012733	Macule	4771	NF2	OMIM:101000
HP:0012733	Macule	699	BUB1	OMIM:620183
HP:0012733	Macule	1186	CLCN7	OMIM:618541
HP:0012733	Macule	57680	CHD8	OMIM:615032
HP:0012733	Macule	2033	EP300	OMIM:180849
HP:0012733	Macule	1387	CREBBP	OMIM:180849
HP:0012733	Macule	3458	IFNG	OMIM:613254
HP:0012733	Macule	10283	CWC27	OMIM:250410
HP:0012733	Macule	10283	CWC27	ORPHA:166035
HP:0012733	Macule	8936	WASF1	OMIM:618707
HP:0012733	Macule	55719	SLF2	OMIM:620184
HP:0012733	Macule	5605	MAP2K2	OMIM:615280
HP:0012733	Macule	285590	SH3PXD2B	OMIM:249420
HP:0012733	Macule	5594	MAPK1	OMIM:619087
HP:0012733	Macule	9702	CEP57	OMIM:614114
HP:0012733	Macule	1028	CDKN1C	ORPHA:397590
HP:0012733	Macule	5324	PLAG1	ORPHA:397590
HP:0012733	Macule	8091	HMGA2	ORPHA:397590
HP:0012733	Macule	641	BLM	OMIM:210900
HP:0012733	Macule	641	BLM	ORPHA:125
HP:0012733	Macule	5500	PPP1CB	OMIM:617506
HP:0012733	Macule	79728	PALB2	OMIM:610832
HP:0012733	Macule	675	BRCA2	OMIM:605724
HP:0012733	Macule	2177	FANCD2	OMIM:227646
HP:0012733	Macule	55120	FANCL	OMIM:614083
HP:0012733	Macule	9968	MED12	OMIM:300895
HP:0012733	Macule	4221	MEN1	OMIM:131100
HP:0012733	Macule	9652	SKIC3	OMIM:222470
HP:0012733	Macule	9652	SKIC3	ORPHA:84064
HP:0012733	Macule	55023	PHIP	OMIM:617991
HP:0012733	Macule	55023	PHIP	ORPHA:589905
HP:0012733	Macule	1315	COPB1	OMIM:619255
HP:0012733	Macule	84464	SLX4	OMIM:613951
HP:0012733	Macule	157570	ESCO2	OMIM:268300
HP:0012733	Macule	6595	SMARCA2	OMIM:601358
HP:0012733	Macule	5781	PTPN11	OMIM:151100
HP:0012733	Macule	5781	PTPN11	OMIM:163950
HP:0012733	Macule	867	CBL	OMIM:613563
HP:0012733	Macule	6499	SKIC2	ORPHA:84064
HP:0012733	Macule	22907	DHX30	OMIM:617804
HP:0012733	Macule	5426	POLE	OMIM:618336
HP:0012733	Macule	9898	UBAP2L	OMIM:620494
HP:0012733	Macule	673	BRAF	OMIM:163950
HP:0012733	Macule	5604	MAP2K1	OMIM:163950
HP:0012733	Macule	8085	KMT2D	OMIM:147920
HP:0012733	Macule	7403	KDM6A	OMIM:147920
HP:0012733	Macule	25778	DSTYK	ORPHA:101003
HP:0012733	Macule	25778	DSTYK	OMIM:270750
HP:0012733	Macule	5573	PRKAR1A	OMIM:160980
HP:0012733	Macule	5573	PRKAR1A	ORPHA:1359
HP:0012733	Macule	3845	KRAS	ORPHA:1340
HP:0012733	Macule	50940	PDE11A	ORPHA:1359
HP:0012733	Macule	23141	ANKLE2	OMIM:616681
HP:0012733	Macule	112858	TP53RK	OMIM:617730
HP:0012733	Macule	23135	KDM6B	OMIM:618505
HP:0012733	Macule	60	ACTB	ORPHA:64755
HP:0012733	Macule	2186	BPTF	OMIM:148000
HP:0012733	Macule	3569	IL6	OMIM:148000
HP:0012733	Macule	4254	KITLG	OMIM:145250
HP:0012733	Macule	4254	KITLG	OMIM:619947
HP:0012733	Macule	2261	FGFR3	ORPHA:53271
HP:0012733	Macule	56983	POGLUT1	ORPHA:79145
HP:0012733	Macule	3852	KRT5	ORPHA:79145
HP:0012733	Macule	3852	KRT5	ORPHA:79397
HP:0012733	Macule	3852	KRT5	ORPHA:79399
HP:0012733	Macule	23509	POFUT1	ORPHA:79145
HP:0012733	Macule	55851	PSENEN	ORPHA:79145
HP:0012733	Macule	56916	SMARCAD1	OMIM:129200
HP:0012733	Macule	1161	ERCC8	ORPHA:90321
HP:0012733	Macule	1161	ERCC8	ORPHA:90322
HP:0012733	Macule	2074	ERCC6	ORPHA:90321
HP:0012733	Macule	2074	ERCC6	ORPHA:90322
HP:0012733	Macule	2074	ERCC6	OMIM:278800
HP:0012733	Macule	2776	GNAQ	ORPHA:624
HP:0012733	Macule	2067	ERCC1	ORPHA:90322
HP:0012733	Macule	4000	LMNA	ORPHA:740
HP:0012733	Macule	10269	ZMPSTE24	ORPHA:740
HP:0012733	Macule	8869	ST3GAL5	OMIM:609056
HP:0012733	Macule	54	ACP5	OMIM:607944
HP:0012733	Macule	716	C1S	ORPHA:75392
HP:0012733	Macule	715	C1R	ORPHA:75392
HP:0012733	Macule	3643	INSR	OMIM:246200
HP:0012733	Macule	1663	DDX11	OMIM:613398
HP:0012733	Macule	5339	PLEC	ORPHA:79401
HP:0012733	Macule	4313	MMP2	OMIM:259600
HP:0012733	Macule	23328	SASH1	OMIM:618373
HP:0012733	Macule	10457	GPNMB	OMIM:617920
HP:0012733	Macule	8216	LZTR1	OMIM:605275
HP:0012733	Macule	3861	KRT14	ORPHA:79397
HP:0012733	Macule	3861	KRT14	ORPHA:79399
HP:0012733	Macule	1027	CDKN1B	ORPHA:652
HP:0012733	Macule	1026	CDKN1A	ORPHA:652
HP:0012733	Macule	1030	CDKN2B	ORPHA:652
HP:0012733	Macule	1031	CDKN2C	ORPHA:652
HP:0012733	Macule	1308	COL17A1	OMIM:619787
HP:0012733	Macule	2783	GNB2	OMIM:619503
HP:0012733	Macule	6418	SET	OMIM:618106
HP:0012733	Macule	5932	RBBP8	OMIM:606744
HP:0012733	Macule	9319	TRIP13	OMIM:617598
HP:0012733	Macule	64864	RFX7	OMIM:620330
HP:0012733	Macule	23556	PIGN	ORPHA:280633
HP:0012733	Macule	91039	DPP9	OMIM:620331
HP:0012733	Macule	4841	NONO	ORPHA:466791
HP:0012733	Macule	4436	MSH2	OMIM:619096
HP:0012733	Macule	2956	MSH6	OMIM:619097
HP:0012733	Macule	5980	REV3L	ORPHA:570
HP:0012733	Macule	23129	PLXND1	ORPHA:570
HP:0012733	Macule	11253	MAN1B1	ORPHA:397941
HP:0012733	Macule	2189	FANCG	OMIM:614082
HP:0012733	Macule	2189	FANCG	ORPHA:84
HP:0012733	Macule	8242	KDM5C	ORPHA:85279
HP:0012733	Macule	672	BRCA1	ORPHA:84
HP:0012733	Macule	10459	MAD2L2	ORPHA:84
HP:0012733	Macule	7516	XRCC2	ORPHA:84
HP:0012733	Macule	29089	UBE2T	ORPHA:84
HP:0012733	Macule	2187	FANCB	ORPHA:84
HP:0012733	Macule	5888	RAD51	ORPHA:84
HP:0012733	Macule	5889	RAD51C	ORPHA:84
HP:0012733	Macule	55159	RFWD3	ORPHA:84
HP:0012733	Macule	83990	BRIP1	ORPHA:84
HP:0012733	Macule	83990	BRIP1	OMIM:609054
HP:0012733	Macule	57697	FANCM	ORPHA:84
HP:0012733	Macule	11322	TMC6	ORPHA:302
HP:0012733	Macule	3574	IL7	ORPHA:302
HP:0012733	Macule	147138	TMC8	ORPHA:302
HP:0012733	Macule	10519	CIB1	ORPHA:302
HP:0012733	Macule	4292	MLH1	OMIM:276300
HP:0012733	Macule	117581	TWIST2	ORPHA:1807
HP:0012733	Macule	8626	TP63	ORPHA:69085
HP:0012733	Macule	9184	BUB3	ORPHA:1052
HP:0012733	Macule	701	BUB1B	ORPHA:1052
HP:0012733	Macule	5395	PMS2	OMIM:619101
HP:0012733	Macule	2767	GNA11	ORPHA:1556
HP:0012733	Macule	151188	ARL6IP6	ORPHA:1556
HP:0012733	Macule	134218	DNAJC21	OMIM:617052
HP:0012733	Macule	374969	SVBP	OMIM:618569
HP:0012733	Macule	64840	PORCN	ORPHA:2092
HP:0012733	Macule	3119	HLA-DQB1	ORPHA:703
HP:0012733	Macule	3123	HLA-DRB1	ORPHA:703
HP:0012733	Macule	5590	PRKCZ	ORPHA:1606
HP:0012733	Macule	2563	GABRD	ORPHA:1606
HP:0012733	Macule	23013	SPEN	ORPHA:1606
HP:0012733	Macule	8510	MMP23B	ORPHA:1606
HP:0012733	Macule	7798	LUZP1	ORPHA:1606
HP:0012733	Macule	6497	SKI	ORPHA:1606
HP:0012733	Macule	10630	PDPN	ORPHA:1606
HP:0012733	Macule	3339	HSPG2	ORPHA:1606
HP:0012733	Macule	10277	UBE4B	ORPHA:1606
HP:0012733	Macule	8514	KCNAB2	ORPHA:1606
HP:0012733	Macule	473	RERE	ORPHA:1606
HP:0012733	Macule	63976	PRDM16	ORPHA:1606
HP:0012733	Macule	54897	CASZ1	ORPHA:1606
HP:0012733	Macule	2050	EPHB4	ORPHA:137667
HP:0012733	Macule	5921	RASA1	ORPHA:137667
HP:0012733	Macule	50485	SMARCAL1	OMIM:242900
HP:0012733	Macule	7248	TSC1	ORPHA:538
HP:0012733	Macule	7249	TSC2	ORPHA:538
HP:0012733	Macule	488	ATP2A2	ORPHA:218
HP:0012733	Macule	7132	TNFRSF1A	ORPHA:32960
HP:0012733	Macule	2778	GNAS	ORPHA:2762
HP:0012733	Macule	6785	ELOVL4	ORPHA:1955
HP:0012733	Macule	3815	KIT	ORPHA:79455
HP:0012733	Macule	3815	KIT	ORPHA:2884
HP:0012733	Macule	1536	CYBB	ORPHA:379
HP:0012733	Macule	4688	NCF2	ORPHA:379
HP:0012733	Macule	1535	CYBA	ORPHA:379
HP:0012733	Macule	4689	NCF4	ORPHA:379
HP:0012733	Macule	653361	NCF1	ORPHA:379
HP:0012733	Macule	79415	CYBC1	ORPHA:379
HP:0012733	Macule	6591	SNAI2	ORPHA:2884
HP:0012733	Macule	103	ADAR	ORPHA:41
HP:0012733	Macule	3106	HLA-B	ORPHA:36426
HP:0012733	Macule	10320	IKZF1	ORPHA:36426
HP:0012733	Macule	102	ADAM10	OMIM:615537
HP:0012733	Macule	10483	SEC23B	ORPHA:201
HP:0012733	Macule	5728	PTEN	ORPHA:201
HP:0012733	Macule	6390	SDHB	ORPHA:201
HP:0012733	Macule	6392	SDHD	ORPHA:201
HP:0012733	Macule	6391	SDHC	ORPHA:201
HP:0012733	Macule	207	AKT1	ORPHA:201
HP:0012733	Macule	205717	USF3	ORPHA:201
HP:0012733	Macule	5290	PIK3CA	ORPHA:201
HP:0012733	Macule	100144748	KLLN	ORPHA:201
HP:0012733	Macule	9333	TGM5	ORPHA:263534
HP:0012733	Macule	1475	CSTA	ORPHA:263534
HP:0012733	Macule	1281	COL3A1	ORPHA:286
HP:0012733	Macule	10058	ABCB6	ORPHA:241
HP:0012733	Macule	4763	NF1	ORPHA:363700
HP:0012733	Macule	80169	CTC1	ORPHA:1775
HP:0012733	Macule	26277	TINF2	ORPHA:1775
HP:0012733	Macule	55651	NHP2	ORPHA:1775
HP:0012733	Macule	79650	USB1	ORPHA:1775
HP:0012733	Macule	55135	WRAP53	ORPHA:1775
HP:0012733	Macule	51750	RTEL1	ORPHA:1775
HP:0012733	Macule	4869	NPM1	ORPHA:1775
HP:0012733	Macule	7012	TERC	ORPHA:1775
HP:0012733	Macule	55505	NOP10	ORPHA:1775
HP:0012733	Macule	5073	PARN	ORPHA:1775
HP:0012733	Macule	7015	TERT	ORPHA:1775
HP:0012733	Macule	1736	DKC1	ORPHA:1775
HP:0012733	Macule	7298	TYMS	ORPHA:1775
HP:0012733	Macule	6794	STK11	ORPHA:2869
HP:0012733	Macule	2697	GJA1	ORPHA:317
HP:0012733	Macule	2707	GJB3	ORPHA:317
HP:0012733	Macule	2531	KDSR	ORPHA:317
HP:0012733	Macule	127534	GJB4	ORPHA:317
HP:0012733	Macule	2068	ERCC2	ORPHA:910
HP:0012733	Macule	7507	XPA	ORPHA:910
HP:0012733	Macule	2071	ERCC3	ORPHA:910
HP:0012733	Macule	7508	XPC	ORPHA:910
HP:0012733	Macule	1643	DDB2	ORPHA:910
HP:0012733	Macule	2072	ERCC4	ORPHA:910
HP:0012733	Macule	2073	ERCC5	ORPHA:910
HP:0012733	Macule	5167	ENPP1	OMIM:615522
HP:0012733	Macule	23384	SPECC1L	OMIM:145420
HP:0012733	Macule	2176	FANCC	OMIM:227645
HP:0012733	Macule	5580	PRKCD	OMIM:615559
HP:0012733	Macule	1493	CTLA4	ORPHA:2584
HP:0012733	Macule	940	CD28	ORPHA:2584
HP:0012733	Macule	7133	TNFRSF1B	ORPHA:2584
HP:0033568	Left axis deviation	7139	TNNT2	OMIM:612422
HP:0033568	Left axis deviation	51422	PRKAG2	OMIM:261740
HP:0033568	Left axis deviation	23129	PLXND1	OMIM:620294
HP:0012740	Papilloma	3265	HRAS	ORPHA:3071
HP:0012740	Papilloma	10483	SEC23B	ORPHA:201
HP:0012740	Papilloma	10483	SEC23B	OMIM:616858
HP:0012740	Papilloma	5728	PTEN	ORPHA:201
HP:0012740	Papilloma	6390	SDHB	ORPHA:201
HP:0012740	Papilloma	6392	SDHD	ORPHA:201
HP:0012740	Papilloma	6391	SDHC	ORPHA:201
HP:0012740	Papilloma	207	AKT1	ORPHA:201
HP:0012740	Papilloma	205717	USF3	ORPHA:201
HP:0012740	Papilloma	5290	PIK3CA	ORPHA:201
HP:0012740	Papilloma	100144748	KLLN	ORPHA:201
HP:0012740	Papilloma	7852	CXCR4	ORPHA:51636
HP:0012740	Papilloma	2324	FLT4	OMIM:153100
HP:0012740	Papilloma	64840	PORCN	ORPHA:2092
HP:0012740	Papilloma	4437	MSH3	ORPHA:480536
HP:0012740	Papilloma	2068	ERCC2	ORPHA:910
HP:0012740	Papilloma	7507	XPA	ORPHA:910
HP:0012740	Papilloma	2071	ERCC3	ORPHA:910
HP:0012740	Papilloma	7508	XPC	ORPHA:910
HP:0012740	Papilloma	1643	DDB2	ORPHA:910
HP:0012740	Papilloma	2072	ERCC4	ORPHA:910
HP:0012740	Papilloma	2073	ERCC5	ORPHA:910
HP:0012740	Papilloma	399	RHOH	OMIM:618307
HP:0012740	Papilloma	920	CD4	OMIM:619238
HP:0012740	Papilloma	23308	ICOSLG	OMIM:620825
HP:0012740	Papilloma	7174	TPP2	OMIM:619220
HP:0012740	Papilloma	7157	TP53	OMIM:260500
HP:0012740	Papilloma	7157	TP53	ORPHA:2807
HP:0012740	Papilloma	4893	NRAS	OMIM:249400
HP:0012740	Papilloma	1893	ECM1	ORPHA:530
HP:0012740	Papilloma	8517	IKBKG	ORPHA:464
HP:0012740	Papilloma	64421	DCLRE1C	ORPHA:275
HP:0012740	Papilloma	11322	TMC6	OMIM:226400
HP:0012740	Papilloma	11322	TMC6	ORPHA:302
HP:0012740	Papilloma	10519	CIB1	OMIM:618267
HP:0012740	Papilloma	10519	CIB1	ORPHA:302
HP:0012740	Papilloma	146206	CARMIL2	OMIM:618131
HP:0012740	Papilloma	8547	FCN3	OMIM:613860
HP:0012740	Papilloma	5424	POLD1	OMIM:620836
HP:0012740	Papilloma	2624	GATA2	OMIM:614038
HP:0012740	Papilloma	10625	IVNS1ABP	OMIM:618969
HP:0012740	Papilloma	3574	IL7	OMIM:618309
HP:0012740	Papilloma	3574	IL7	ORPHA:302
HP:0012740	Papilloma	940	CD28	OMIM:620901
HP:0012740	Papilloma	488	ATP2A2	ORPHA:79151
HP:0012740	Papilloma	55072	RNF31	OMIM:620632
HP:0012740	Papilloma	29927	SEC61A1	OMIM:620674
HP:0012740	Papilloma	54440	SASH3	OMIM:301082
HP:0012740	Papilloma	6789	STK4	OMIM:614868
HP:0012740	Papilloma	147138	TMC8	ORPHA:302
HP:0012740	Papilloma	6929	TCF3	ORPHA:33110
HP:0012740	Papilloma	7922	SLC39A7	ORPHA:33110
HP:0012740	Papilloma	973	CD79A	ORPHA:33110
HP:0012740	Papilloma	974	CD79B	ORPHA:33110
HP:0012740	Papilloma	6688	SPI1	ORPHA:33110
HP:0012740	Papilloma	3543	IGLL1	ORPHA:33110
HP:0012740	Papilloma	3507	IGHM	ORPHA:33110
HP:0012740	Papilloma	29760	BLNK	ORPHA:33110
HP:0012740	Papilloma	5295	PIK3R1	ORPHA:33110
HP:0012740	Papilloma	56262	LRRC8A	ORPHA:33110
HP:0012740	Papilloma	81704	DOCK8	ORPHA:217390
HP:0025021	Abnormal erythrocyte sedimentation rate	26191	PTPN22	ORPHA:397
HP:0025021	Abnormal erythrocyte sedimentation rate	26191	PTPN22	ORPHA:85410
HP:0025021	Abnormal erythrocyte sedimentation rate	26191	PTPN22	ORPHA:85408
HP:0025021	Abnormal erythrocyte sedimentation rate	26191	PTPN22	ORPHA:900
HP:0025021	Abnormal erythrocyte sedimentation rate	26191	PTPN22	OMIM:180300
HP:0025021	Abnormal erythrocyte sedimentation rate	3106	HLA-B	ORPHA:397
HP:0025021	Abnormal erythrocyte sedimentation rate	3106	HLA-B	ORPHA:29207
HP:0025021	Abnormal erythrocyte sedimentation rate	3106	HLA-B	ORPHA:3287
HP:0025021	Abnormal erythrocyte sedimentation rate	3106	HLA-B	ORPHA:117
HP:0025021	Abnormal erythrocyte sedimentation rate	3123	HLA-DRB1	ORPHA:397
HP:0025021	Abnormal erythrocyte sedimentation rate	3123	HLA-DRB1	ORPHA:85414
HP:0025021	Abnormal erythrocyte sedimentation rate	3123	HLA-DRB1	OMIM:181000
HP:0025021	Abnormal erythrocyte sedimentation rate	8974	P4HA2	ORPHA:397
HP:0025021	Abnormal erythrocyte sedimentation rate	9663	LPIN2	OMIM:609628
HP:0025021	Abnormal erythrocyte sedimentation rate	144811	LACC1	ORPHA:85414
HP:0025021	Abnormal erythrocyte sedimentation rate	4282	MIF	ORPHA:85414
HP:0025021	Abnormal erythrocyte sedimentation rate	3569	IL6	ORPHA:85414
HP:0025021	Abnormal erythrocyte sedimentation rate	6775	STAT4	ORPHA:85410
HP:0025021	Abnormal erythrocyte sedimentation rate	6775	STAT4	ORPHA:93552
HP:0025021	Abnormal erythrocyte sedimentation rate	6775	STAT4	ORPHA:85408
HP:0025021	Abnormal erythrocyte sedimentation rate	6775	STAT4	ORPHA:117
HP:0025021	Abnormal erythrocyte sedimentation rate	3560	IL2RB	ORPHA:85410
HP:0025021	Abnormal erythrocyte sedimentation rate	3560	IL2RB	ORPHA:85408
HP:0025021	Abnormal erythrocyte sedimentation rate	79722	ANKRD55	ORPHA:85410
HP:0025021	Abnormal erythrocyte sedimentation rate	79722	ANKRD55	ORPHA:85408
HP:0025021	Abnormal erythrocyte sedimentation rate	919	CD247	ORPHA:85410
HP:0025021	Abnormal erythrocyte sedimentation rate	919	CD247	ORPHA:85408
HP:0025021	Abnormal erythrocyte sedimentation rate	3559	IL2RA	ORPHA:85410
HP:0025021	Abnormal erythrocyte sedimentation rate	3559	IL2RA	ORPHA:85408
HP:0025021	Abnormal erythrocyte sedimentation rate	5771	PTPN2	ORPHA:85410
HP:0025021	Abnormal erythrocyte sedimentation rate	5771	PTPN2	ORPHA:85408
HP:0025021	Abnormal erythrocyte sedimentation rate	27178	IL37	OMIM:619398
HP:0025021	Abnormal erythrocyte sedimentation rate	4598	MVK	OMIM:260920
HP:0025021	Abnormal erythrocyte sedimentation rate	4598	MVK	OMIM:610377
HP:0025021	Abnormal erythrocyte sedimentation rate	4598	MVK	ORPHA:343
HP:0025021	Abnormal erythrocyte sedimentation rate	6696	SPP1	ORPHA:93552
HP:0025021	Abnormal erythrocyte sedimentation rate	6303	SAT1	ORPHA:93552
HP:0025021	Abnormal erythrocyte sedimentation rate	3654	IRAK1	ORPHA:93552
HP:0025021	Abnormal erythrocyte sedimentation rate	55315	SLC29A3	OMIM:602782
HP:0025021	Abnormal erythrocyte sedimentation rate	7317	UBA1	OMIM:301054
HP:0025021	Abnormal erythrocyte sedimentation rate	4210	MEFV	OMIM:249100
HP:0025021	Abnormal erythrocyte sedimentation rate	4210	MEFV	ORPHA:3243
HP:0025021	Abnormal erythrocyte sedimentation rate	4210	MEFV	OMIM:608068
HP:0025021	Abnormal erythrocyte sedimentation rate	4210	MEFV	ORPHA:342
HP:0025021	Abnormal erythrocyte sedimentation rate	4210	MEFV	ORPHA:117
HP:0025021	Abnormal erythrocyte sedimentation rate	3459	IFNGR1	OMIM:209950
HP:0025021	Abnormal erythrocyte sedimentation rate	3459	IFNGR1	ORPHA:117
HP:0025021	Abnormal erythrocyte sedimentation rate	843	CASP10	OMIM:603909
HP:0025021	Abnormal erythrocyte sedimentation rate	81858	SHARPIN	OMIM:620795
HP:0025021	Abnormal erythrocyte sedimentation rate	7132	TNFRSF1A	ORPHA:32960
HP:0025021	Abnormal erythrocyte sedimentation rate	7132	TNFRSF1A	OMIM:142680
HP:0025021	Abnormal erythrocyte sedimentation rate	114548	NLRP3	ORPHA:575
HP:0025021	Abnormal erythrocyte sedimentation rate	114548	NLRP3	ORPHA:1451
HP:0025021	Abnormal erythrocyte sedimentation rate	114548	NLRP3	OMIM:191900
HP:0025021	Abnormal erythrocyte sedimentation rate	114548	NLRP3	OMIM:607115
HP:0025021	Abnormal erythrocyte sedimentation rate	3930	LBR	OMIM:613471
HP:0025021	Abnormal erythrocyte sedimentation rate	340061	STING1	OMIM:615934
HP:0025021	Abnormal erythrocyte sedimentation rate	5777	PTPN6	ORPHA:3243
HP:0025021	Abnormal erythrocyte sedimentation rate	10095	ARPC1B	OMIM:617718
HP:0025021	Abnormal erythrocyte sedimentation rate	713	C1QB	OMIM:620321
HP:0025021	Abnormal erythrocyte sedimentation rate	64127	NOD2	OMIM:617321
HP:0025021	Abnormal erythrocyte sedimentation rate	29775	CARD10	OMIM:619632
HP:0025021	Abnormal erythrocyte sedimentation rate	11277	TREX1	OMIM:192315
HP:0025021	Abnormal erythrocyte sedimentation rate	11277	TREX1	OMIM:610448
HP:0025021	Abnormal erythrocyte sedimentation rate	3702	ITK	OMIM:613011
HP:0025021	Abnormal erythrocyte sedimentation rate	5580	PRKCD	OMIM:615559
HP:0025021	Abnormal erythrocyte sedimentation rate	1493	CTLA4	ORPHA:900
HP:0025021	Abnormal erythrocyte sedimentation rate	3115	HLA-DPB1	ORPHA:900
HP:0025021	Abnormal erythrocyte sedimentation rate	5657	PRTN3	ORPHA:900
HP:0025021	Abnormal erythrocyte sedimentation rate	3113	HLA-DPA1	ORPHA:900
HP:0025021	Abnormal erythrocyte sedimentation rate	7040	TGFB1	ORPHA:1328
HP:0025021	Abnormal erythrocyte sedimentation rate	130340	AP1S3	ORPHA:247353
HP:0025021	Abnormal erythrocyte sedimentation rate	26525	IL36RN	ORPHA:247353
HP:0025021	Abnormal erythrocyte sedimentation rate	57169	ZNFX1	OMIM:619644
HP:0025021	Abnormal erythrocyte sedimentation rate	1314	COPA	OMIM:616414
HP:0025021	Abnormal erythrocyte sedimentation rate	51816	ADA2	OMIM:615688
HP:0025021	Abnormal erythrocyte sedimentation rate	3557	IL1RN	OMIM:612852
HP:0025021	Abnormal erythrocyte sedimentation rate	91662	NLRP12	OMIM:611762
HP:0025021	Abnormal erythrocyte sedimentation rate	5335	PLCG1	OMIM:620514
HP:0025021	Abnormal erythrocyte sedimentation rate	55072	RNF31	OMIM:620632
HP:0025021	Abnormal erythrocyte sedimentation rate	3554	IL1R1	OMIM:259680
HP:0025021	Abnormal erythrocyte sedimentation rate	51371	POMP	OMIM:618048
HP:0025021	Abnormal erythrocyte sedimentation rate	5692	PSMB4	OMIM:617591
HP:0025021	Abnormal erythrocyte sedimentation rate	3593	IL12B	ORPHA:3287
HP:0025021	Abnormal erythrocyte sedimentation rate	6945	MLX	ORPHA:3287
HP:0025021	Abnormal erythrocyte sedimentation rate	3586	IL10	OMIM:180300
HP:0025021	Abnormal erythrocyte sedimentation rate	3586	IL10	ORPHA:117
HP:0025021	Abnormal erythrocyte sedimentation rate	6583	SLC22A4	OMIM:180300
HP:0025021	Abnormal erythrocyte sedimentation rate	4261	CIITA	OMIM:180300
HP:0025021	Abnormal erythrocyte sedimentation rate	51744	CD244	OMIM:180300
HP:0025021	Abnormal erythrocyte sedimentation rate	4795	NFKBIL1	OMIM:180300
HP:0025021	Abnormal erythrocyte sedimentation rate	2000	ELF4	OMIM:301074
HP:0025021	Abnormal erythrocyte sedimentation rate	4615	MYD88	ORPHA:33226
HP:0025021	Abnormal erythrocyte sedimentation rate	4689	NCF4	OMIM:613960
HP:0025021	Abnormal erythrocyte sedimentation rate	5696	PSMB8	OMIM:256040
HP:0025021	Abnormal erythrocyte sedimentation rate	4067	LYN	OMIM:620376
HP:0025021	Abnormal erythrocyte sedimentation rate	149233	IL23R	ORPHA:117
HP:0025021	Abnormal erythrocyte sedimentation rate	1230	CCR1	ORPHA:117
HP:0025021	Abnormal erythrocyte sedimentation rate	355	FAS	ORPHA:117
HP:0025021	Abnormal erythrocyte sedimentation rate	3592	IL12A	ORPHA:117
HP:0025021	Abnormal erythrocyte sedimentation rate	101928376	IL12A-AS1	ORPHA:117
HP:0025021	Abnormal erythrocyte sedimentation rate	7099	TLR4	ORPHA:117
HP:0025021	Abnormal erythrocyte sedimentation rate	720	C4A	ORPHA:117
HP:0025021	Abnormal erythrocyte sedimentation rate	337867	UBAC2	ORPHA:117
HP:0025021	Abnormal erythrocyte sedimentation rate	51752	ERAP1	ORPHA:117
HP:0025021	Abnormal erythrocyte sedimentation rate	8302	KLRC4	ORPHA:117
HP:0025021	Abnormal erythrocyte sedimentation rate	8838	CCN6	ORPHA:1159
HP:0025021	Abnormal erythrocyte sedimentation rate	4547	MTTP	ORPHA:14
HP:0025022	Decreased erythrocyte sedimentation rate	4547	MTTP	ORPHA:14
HP:0025023	Rectal atresia	341640	FREM2	OMIM:617666
HP:0025023	Rectal atresia	5889	RAD51C	OMIM:613390
HP:0025023	Rectal atresia	57217	TTC7A	OMIM:243150
HP:0025023	Rectal atresia	26123	TCTN3	ORPHA:2753
HP:0025024	Megarectum	55593	OTUD5	OMIM:301056
HP:0025024	Megarectum	3643	INSR	ORPHA:508
HP:0025025	Rectovestibular fistula	23556	PIGN	ORPHA:280633
HP:0025027	Osteoma cutis	2778	GNAS	OMIM:166350
HP:0025027	Osteoma cutis	2778	GNAS	ORPHA:79443
HP:0025027	Osteoma cutis	2778	GNAS	ORPHA:79444
HP:0025027	Osteoma cutis	2778	GNAS	ORPHA:79445
HP:0025028	Abnormal enteric nervous system morphology	25970	SH2B1	ORPHA:261222
HP:0025028	Abnormal enteric nervous system morphology	6535	SLC6A8	OMIM:300352
HP:0025028	Abnormal enteric nervous system morphology	6535	SLC6A8	ORPHA:52503
HP:0025028	Abnormal enteric nervous system morphology	10262	SF3B4	OMIM:154400
HP:0025028	Abnormal enteric nervous system morphology	26128	KIFBP	OMIM:609460
HP:0025028	Abnormal enteric nervous system morphology	26128	KIFBP	ORPHA:66629
HP:0025028	Abnormal enteric nervous system morphology	23556	PIGN	ORPHA:2059
HP:0025028	Abnormal enteric nervous system morphology	8195	MKKS	OMIM:236700
HP:0025028	Abnormal enteric nervous system morphology	8195	MKKS	ORPHA:110
HP:0025028	Abnormal enteric nervous system morphology	8195	MKKS	ORPHA:2473
HP:0025028	Abnormal enteric nervous system morphology	57167	SALL4	OMIM:607323
HP:0025028	Abnormal enteric nervous system morphology	57167	SALL4	ORPHA:959
HP:0025028	Abnormal enteric nervous system morphology	64324	NSD1	ORPHA:821
HP:0025028	Abnormal enteric nervous system morphology	10297	APC2	ORPHA:821
HP:0025028	Abnormal enteric nervous system morphology	1908	EDN3	ORPHA:661
HP:0025028	Abnormal enteric nervous system morphology	1908	EDN3	ORPHA:388
HP:0025028	Abnormal enteric nervous system morphology	1908	EDN3	ORPHA:897
HP:0025028	Abnormal enteric nervous system morphology	1908	EDN3	OMIM:613265
HP:0025028	Abnormal enteric nervous system morphology	1908	EDN3	OMIM:613712
HP:0025028	Abnormal enteric nervous system morphology	2668	GDNF	ORPHA:661
HP:0025028	Abnormal enteric nervous system morphology	2668	GDNF	ORPHA:388
HP:0025028	Abnormal enteric nervous system morphology	2668	GDNF	OMIM:613711
HP:0025028	Abnormal enteric nervous system morphology	627	BDNF	ORPHA:661
HP:0025028	Abnormal enteric nervous system morphology	10660	LBX1	ORPHA:661
HP:0025028	Abnormal enteric nervous system morphology	283446	MYO1H	ORPHA:661
HP:0025028	Abnormal enteric nervous system morphology	8929	PHOX2B	ORPHA:661
HP:0025028	Abnormal enteric nervous system morphology	8929	PHOX2B	ORPHA:99803
HP:0025028	Abnormal enteric nervous system morphology	8929	PHOX2B	ORPHA:2151
HP:0025028	Abnormal enteric nervous system morphology	8929	PHOX2B	OMIM:209880
HP:0025028	Abnormal enteric nervous system morphology	8929	PHOX2B	OMIM:613013
HP:0025028	Abnormal enteric nervous system morphology	215	ABCD1	ORPHA:388
HP:0025028	Abnormal enteric nervous system morphology	6608	SMO	ORPHA:388
HP:0025028	Abnormal enteric nervous system morphology	1889	ECE1	ORPHA:388
HP:0025028	Abnormal enteric nervous system morphology	1889	ECE1	OMIM:613870
HP:0025028	Abnormal enteric nervous system morphology	6720	SREBF1	ORPHA:388
HP:0025028	Abnormal enteric nervous system morphology	223117	SEMA3D	ORPHA:388
HP:0025028	Abnormal enteric nervous system morphology	538	ATP7A	ORPHA:388
HP:0025028	Abnormal enteric nervous system morphology	1910	EDNRB	ORPHA:388
HP:0025028	Abnormal enteric nervous system morphology	1910	EDNRB	ORPHA:897
HP:0025028	Abnormal enteric nervous system morphology	1910	EDNRB	OMIM:600501
HP:0025028	Abnormal enteric nervous system morphology	1910	EDNRB	OMIM:277580
HP:0025028	Abnormal enteric nervous system morphology	1910	EDNRB	OMIM:600155
HP:0025028	Abnormal enteric nervous system morphology	1910	EDNRB	ORPHA:895
HP:0025028	Abnormal enteric nervous system morphology	10512	SEMA3C	ORPHA:388
HP:0025028	Abnormal enteric nervous system morphology	2064	ERBB2	ORPHA:388
HP:0025028	Abnormal enteric nervous system morphology	2065	ERBB3	ORPHA:388
HP:0025028	Abnormal enteric nervous system morphology	2065	ERBB3	OMIM:243180
HP:0025028	Abnormal enteric nervous system morphology	4902	NRTN	ORPHA:388
HP:0025028	Abnormal enteric nervous system morphology	23322	RPGRIP1L	ORPHA:220497
HP:0025028	Abnormal enteric nervous system morphology	4867	NPHP1	ORPHA:220497
HP:0025028	Abnormal enteric nervous system morphology	4867	NPHP1	ORPHA:110
HP:0025028	Abnormal enteric nervous system morphology	65062	TMEM237	ORPHA:220497
HP:0025028	Abnormal enteric nervous system morphology	65062	TMEM237	ORPHA:2318
HP:0025028	Abnormal enteric nervous system morphology	65062	TMEM237	ORPHA:475
HP:0025028	Abnormal enteric nervous system morphology	83479	DDX59	OMIM:174300
HP:0025028	Abnormal enteric nervous system morphology	83479	DDX59	ORPHA:2919
HP:0025028	Abnormal enteric nervous system morphology	72	ACTG2	ORPHA:2604
HP:0025028	Abnormal enteric nervous system morphology	72	ACTG2	OMIM:155310
HP:0025028	Abnormal enteric nervous system morphology	54806	AHI1	ORPHA:220493
HP:0025028	Abnormal enteric nervous system morphology	54806	AHI1	ORPHA:475
HP:0025028	Abnormal enteric nervous system morphology	56623	INPP5E	ORPHA:220493
HP:0025028	Abnormal enteric nervous system morphology	56623	INPP5E	ORPHA:475
HP:0025028	Abnormal enteric nervous system morphology	153241	CEP120	ORPHA:220493
HP:0025028	Abnormal enteric nervous system morphology	153241	CEP120	ORPHA:475
HP:0025028	Abnormal enteric nervous system morphology	54903	MKS1	ORPHA:220493
HP:0025028	Abnormal enteric nervous system morphology	54903	MKS1	ORPHA:475
HP:0025028	Abnormal enteric nervous system morphology	54903	MKS1	ORPHA:110
HP:0025028	Abnormal enteric nervous system morphology	95681	CEP41	ORPHA:220493
HP:0025028	Abnormal enteric nervous system morphology	95681	CEP41	ORPHA:475
HP:0025028	Abnormal enteric nervous system morphology	1717	DHCR7	ORPHA:818
HP:0025028	Abnormal enteric nervous system morphology	1717	DHCR7	OMIM:270400
HP:0025028	Abnormal enteric nervous system morphology	429	ASCL1	ORPHA:99803
HP:0025028	Abnormal enteric nervous system morphology	4286	MITF	ORPHA:897
HP:0025028	Abnormal enteric nervous system morphology	4286	MITF	ORPHA:895
HP:0025028	Abnormal enteric nervous system morphology	6663	SOX10	ORPHA:897
HP:0025028	Abnormal enteric nervous system morphology	6663	SOX10	ORPHA:163746
HP:0025028	Abnormal enteric nervous system morphology	6663	SOX10	OMIM:613266
HP:0025028	Abnormal enteric nervous system morphology	6663	SOX10	OMIM:609136
HP:0025028	Abnormal enteric nervous system morphology	6663	SOX10	ORPHA:895
HP:0025028	Abnormal enteric nervous system morphology	55650	PIGV	OMIM:239300
HP:0025028	Abnormal enteric nervous system morphology	55650	PIGV	ORPHA:247262
HP:0025028	Abnormal enteric nervous system morphology	170302	ARX	ORPHA:452
HP:0025028	Abnormal enteric nervous system morphology	6023	RMRP	ORPHA:175
HP:0025028	Abnormal enteric nervous system morphology	6023	RMRP	OMIM:250250
HP:0025028	Abnormal enteric nervous system morphology	84992	PIGY	ORPHA:247262
HP:0025028	Abnormal enteric nervous system morphology	84720	PIGO	ORPHA:247262
HP:0025028	Abnormal enteric nervous system morphology	84720	PIGO	OMIM:614749
HP:0025028	Abnormal enteric nervous system morphology	93210	PGAP3	ORPHA:247262
HP:0025028	Abnormal enteric nervous system morphology	284098	PIGW	ORPHA:247262
HP:0025028	Abnormal enteric nervous system morphology	27315	PGAP2	ORPHA:247262
HP:0025028	Abnormal enteric nervous system morphology	27315	PGAP2	OMIM:614207
HP:0025028	Abnormal enteric nervous system morphology	9487	PIGL	ORPHA:247262
HP:0025028	Abnormal enteric nervous system morphology	51360	MBTPS2	ORPHA:2273
HP:0025028	Abnormal enteric nervous system morphology	51360	MBTPS2	OMIM:308205
HP:0025028	Abnormal enteric nervous system morphology	51360	MBTPS2	ORPHA:85284
HP:0025028	Abnormal enteric nervous system morphology	84100	ARL6	OMIM:209900
HP:0025028	Abnormal enteric nervous system morphology	84100	ARL6	ORPHA:110
HP:0025028	Abnormal enteric nervous system morphology	79140	CCDC28B	OMIM:209900
HP:0025028	Abnormal enteric nervous system morphology	582	BBS1	OMIM:209900
HP:0025028	Abnormal enteric nervous system morphology	582	BBS1	ORPHA:110
HP:0025028	Abnormal enteric nervous system morphology	672	BRCA1	ORPHA:84
HP:0025028	Abnormal enteric nervous system morphology	10459	MAD2L2	ORPHA:84
HP:0025028	Abnormal enteric nervous system morphology	7516	XRCC2	ORPHA:84
HP:0025028	Abnormal enteric nervous system morphology	29089	UBE2T	ORPHA:84
HP:0025028	Abnormal enteric nervous system morphology	675	BRCA2	ORPHA:84
HP:0025028	Abnormal enteric nervous system morphology	55120	FANCL	ORPHA:84
HP:0025028	Abnormal enteric nervous system morphology	2177	FANCD2	ORPHA:84
HP:0025028	Abnormal enteric nervous system morphology	2175	FANCA	ORPHA:84
HP:0025028	Abnormal enteric nervous system morphology	2187	FANCB	ORPHA:84
HP:0025028	Abnormal enteric nervous system morphology	2176	FANCC	ORPHA:84
HP:0025028	Abnormal enteric nervous system morphology	2178	FANCE	ORPHA:84
HP:0025028	Abnormal enteric nervous system morphology	2188	FANCF	ORPHA:84
HP:0025028	Abnormal enteric nervous system morphology	2189	FANCG	ORPHA:84
HP:0025028	Abnormal enteric nervous system morphology	5888	RAD51	ORPHA:84
HP:0025028	Abnormal enteric nervous system morphology	5889	RAD51C	ORPHA:84
HP:0025028	Abnormal enteric nervous system morphology	55159	RFWD3	ORPHA:84
HP:0025028	Abnormal enteric nervous system morphology	83990	BRIP1	ORPHA:84
HP:0025028	Abnormal enteric nervous system morphology	57697	FANCM	ORPHA:84
HP:0025028	Abnormal enteric nervous system morphology	79728	PALB2	ORPHA:84
HP:0025028	Abnormal enteric nervous system morphology	84464	SLX4	ORPHA:84
HP:0025028	Abnormal enteric nervous system morphology	2072	ERCC4	ORPHA:84
HP:0025028	Abnormal enteric nervous system morphology	55215	FANCI	ORPHA:84
HP:0025028	Abnormal enteric nervous system morphology	546	ATRX	ORPHA:847
HP:0025028	Abnormal enteric nervous system morphology	1312	COMT	ORPHA:567
HP:0025028	Abnormal enteric nervous system morphology	221037	JMJD1C	ORPHA:567
HP:0025028	Abnormal enteric nervous system morphology	2812	GP1BB	ORPHA:567
HP:0025028	Abnormal enteric nervous system morphology	6239	RREB1	ORPHA:567
HP:0025028	Abnormal enteric nervous system morphology	6899	TBX1	ORPHA:567
HP:0025028	Abnormal enteric nervous system morphology	7290	HIRA	ORPHA:567
HP:0025028	Abnormal enteric nervous system morphology	9632	SEC24C	ORPHA:567
HP:0025028	Abnormal enteric nervous system morphology	7353	UFD1	ORPHA:567
HP:0025028	Abnormal enteric nervous system morphology	421	ARVCF	ORPHA:567
HP:0025028	Abnormal enteric nervous system morphology	79583	TMEM231	ORPHA:2318
HP:0025028	Abnormal enteric nervous system morphology	51524	TMEM138	ORPHA:2318
HP:0025028	Abnormal enteric nervous system morphology	23090	ZNF423	ORPHA:2318
HP:0025028	Abnormal enteric nervous system morphology	80184	CEP290	ORPHA:2318
HP:0025028	Abnormal enteric nervous system morphology	80184	CEP290	ORPHA:110
HP:0025028	Abnormal enteric nervous system morphology	51259	TMEM216	ORPHA:2318
HP:0025028	Abnormal enteric nervous system morphology	57545	CC2D2A	ORPHA:2318
HP:0025028	Abnormal enteric nervous system morphology	5077	PAX3	OMIM:148820
HP:0025028	Abnormal enteric nervous system morphology	5077	PAX3	ORPHA:894
HP:0025028	Abnormal enteric nervous system morphology	26040	SETBP1	ORPHA:798
HP:0025028	Abnormal enteric nervous system morphology	9851	KIAA0753	ORPHA:475
HP:0025028	Abnormal enteric nervous system morphology	5147	PDE6D	ORPHA:475
HP:0025028	Abnormal enteric nervous system morphology	79600	TCTN1	ORPHA:475
HP:0025028	Abnormal enteric nervous system morphology	79848	CSPP1	ORPHA:475
HP:0025028	Abnormal enteric nervous system morphology	8481	OFD1	ORPHA:475
HP:0025028	Abnormal enteric nervous system morphology	51684	SUFU	ORPHA:475
HP:0025028	Abnormal enteric nervous system morphology	65250	CPLANE1	ORPHA:475
HP:0025028	Abnormal enteric nervous system morphology	91147	TMEM67	ORPHA:475
HP:0025028	Abnormal enteric nervous system morphology	200894	ARL13B	ORPHA:475
HP:0025028	Abnormal enteric nervous system morphology	9731	CEP104	ORPHA:475
HP:0025028	Abnormal enteric nervous system morphology	219844	HYLS1	ORPHA:475
HP:0025028	Abnormal enteric nervous system morphology	23247	KATNIP	ORPHA:475
HP:0025028	Abnormal enteric nervous system morphology	219854	TMEM218	ORPHA:475
HP:0025028	Abnormal enteric nervous system morphology	9786	KIAA0586	ORPHA:475
HP:0025028	Abnormal enteric nervous system morphology	26123	TCTN3	ORPHA:475
HP:0025028	Abnormal enteric nervous system morphology	79867	TCTN2	ORPHA:475
HP:0025028	Abnormal enteric nervous system morphology	80776	B9D2	ORPHA:475
HP:0025028	Abnormal enteric nervous system morphology	10464	PIBF1	ORPHA:475
HP:0025028	Abnormal enteric nervous system morphology	80210	ARMC9	ORPHA:475
HP:0025028	Abnormal enteric nervous system morphology	23116	TOGARAM1	ORPHA:475
HP:0025028	Abnormal enteric nervous system morphology	25776	CBY1	ORPHA:475
HP:0025028	Abnormal enteric nervous system morphology	27077	B9D1	ORPHA:475
HP:0025028	Abnormal enteric nervous system morphology	403	ARL3	ORPHA:475
HP:0025028	Abnormal enteric nervous system morphology	80173	IFT74	ORPHA:475
HP:0025028	Abnormal enteric nervous system morphology	80173	IFT74	ORPHA:110
HP:0025028	Abnormal enteric nervous system morphology	92482	BBIP1	ORPHA:110
HP:0025028	Abnormal enteric nervous system morphology	11020	IFT27	ORPHA:110
HP:0025028	Abnormal enteric nervous system morphology	49855	SCAPER	ORPHA:110
HP:0025028	Abnormal enteric nervous system morphology	51057	WDPCP	ORPHA:110
HP:0025028	Abnormal enteric nervous system morphology	132320	SCLT1	ORPHA:110
HP:0025028	Abnormal enteric nervous system morphology	27241	BBS9	ORPHA:110
HP:0025028	Abnormal enteric nervous system morphology	84984	CEP19	ORPHA:110
HP:0025028	Abnormal enteric nervous system morphology	22954	TRIM32	ORPHA:110
HP:0025028	Abnormal enteric nervous system morphology	79738	BBS10	ORPHA:110
HP:0025028	Abnormal enteric nervous system morphology	123016	TTC8	ORPHA:110
HP:0025028	Abnormal enteric nervous system morphology	26160	IFT172	ORPHA:110
HP:0025028	Abnormal enteric nervous system morphology	583	BBS2	ORPHA:110
HP:0025028	Abnormal enteric nervous system morphology	585	BBS4	ORPHA:110
HP:0025028	Abnormal enteric nervous system morphology	54585	LZTFL1	ORPHA:110
HP:0025028	Abnormal enteric nervous system morphology	55212	BBS7	ORPHA:110
HP:0025028	Abnormal enteric nervous system morphology	166379	BBS12	ORPHA:110
HP:0025028	Abnormal enteric nervous system morphology	10806	SDCCAG8	ORPHA:110
HP:0025028	Abnormal enteric nervous system morphology	157657	CFAP418	ORPHA:110
HP:0025028	Abnormal enteric nervous system morphology	129880	BBS5	ORPHA:110
HP:0025028	Abnormal enteric nervous system morphology	54880	BCOR	OMIM:309800
HP:0025028	Abnormal enteric nervous system morphology	8260	NAA10	OMIM:309800
HP:0025028	Abnormal enteric nervous system morphology	6925	TCF4	ORPHA:2896
HP:0025028	Abnormal enteric nervous system morphology	1654	DDX3X	ORPHA:3338
HP:0025028	Abnormal enteric nervous system morphology	3845	KRAS	ORPHA:3339
HP:0025028	Abnormal enteric nervous system morphology	6591	SNAI2	ORPHA:2884
HP:0025028	Abnormal enteric nervous system morphology	6591	SNAI2	ORPHA:895
HP:0025028	Abnormal enteric nervous system morphology	3815	KIT	ORPHA:2884
HP:0025028	Abnormal enteric nervous system morphology	3815	KIT	OMIM:172800
HP:0025028	Abnormal enteric nervous system morphology	7846	TUBA1A	ORPHA:171680
HP:0025028	Abnormal enteric nervous system morphology	7299	TYR	ORPHA:895
HP:0025028	Abnormal enteric nervous system morphology	4254	KITLG	ORPHA:895
HP:0025028	Abnormal enteric nervous system morphology	2294	FOXF1	ORPHA:210122
HP:0025028	Abnormal enteric nervous system morphology	3897	L1CAM	OMIM:304100
HP:0025028	Abnormal enteric nervous system morphology	3897	L1CAM	ORPHA:1497
HP:0025028	Abnormal enteric nervous system morphology	5979	RET	OMIM:142623
HP:0025028	Abnormal enteric nervous system morphology	9839	ZEB2	OMIM:235730
HP:0025028	Abnormal enteric nervous system morphology	7276	TTR	ORPHA:85451
HP:0012749	Focal T2 hypointense brainstem lesion	11235	PDCD10	ORPHA:221061
HP:0012749	Focal T2 hypointense brainstem lesion	5290	PIK3CA	ORPHA:221061
HP:0012749	Focal T2 hypointense brainstem lesion	83605	CCM2	ORPHA:221061
HP:0012749	Focal T2 hypointense brainstem lesion	889	KRIT1	ORPHA:221061
HP:0012745	Short palpebral fissure	22827	PUF60	ORPHA:508498
HP:0012745	Short palpebral fissure	91949	COG7	OMIM:608779
HP:0012745	Short palpebral fissure	51574	LARP7	OMIM:615071
HP:0012745	Short palpebral fissure	51574	LARP7	ORPHA:319671
HP:0012745	Short palpebral fissure	26235	FBXL4	OMIM:615471
HP:0012745	Short palpebral fissure	8367	H4C5	OMIM:619950
HP:0012745	Short palpebral fissure	60529	ALX4	OMIM:613451
HP:0012745	Short palpebral fissure	220	ALDH1A3	OMIM:615113
HP:0012745	Short palpebral fissure	23394	ADNP	OMIM:615873
HP:0012745	Short palpebral fissure	55627	SMPD4	OMIM:618622
HP:0012745	Short palpebral fissure	145173	B3GLCT	ORPHA:709
HP:0012745	Short palpebral fissure	3703	STT3A	OMIM:619714
HP:0012745	Short palpebral fissure	5575	PRKAR1B	OMIM:619680
HP:0012745	Short palpebral fissure	7707	ZNF148	OMIM:617260
HP:0012745	Short palpebral fissure	6662	SOX9	OMIM:114290
HP:0012745	Short palpebral fissure	10982	MAPRE2	OMIM:616734
HP:0012745	Short palpebral fissure	29072	SETD2	OMIM:620157
HP:0012745	Short palpebral fissure	29072	SETD2	OMIM:620155
HP:0012745	Short palpebral fissure	55780	ERMARD	ORPHA:75857
HP:0012745	Short palpebral fissure	57231	SNX14	ORPHA:397709
HP:0012745	Short palpebral fissure	57231	SNX14	OMIM:616354
HP:0012745	Short palpebral fissure	4297	KMT2A	OMIM:605130
HP:0012745	Short palpebral fissure	4297	KMT2A	ORPHA:319182
HP:0012745	Short palpebral fissure	56992	KIF15	ORPHA:261323
HP:0012745	Short palpebral fissure	284058	KANSL1	ORPHA:363958
HP:0012745	Short palpebral fissure	284058	KANSL1	ORPHA:363965
HP:0012745	Short palpebral fissure	4998	ORC1	OMIM:224690
HP:0012745	Short palpebral fissure	3899	AFF3	OMIM:619297
HP:0012745	Short palpebral fissure	54496	PRMT7	OMIM:617157
HP:0012745	Short palpebral fissure	81788	NUAK2	OMIM:619452
HP:0012745	Short palpebral fissure	1108	CHD4	OMIM:617159
HP:0012745	Short palpebral fissure	7841	MOGS	OMIM:606056
HP:0012745	Short palpebral fissure	7841	MOGS	ORPHA:79330
HP:0012745	Short palpebral fissure	672	BRCA1	ORPHA:84
HP:0012745	Short palpebral fissure	10459	MAD2L2	ORPHA:84
HP:0012745	Short palpebral fissure	7516	XRCC2	ORPHA:84
HP:0012745	Short palpebral fissure	29089	UBE2T	ORPHA:84
HP:0012745	Short palpebral fissure	675	BRCA2	ORPHA:84
HP:0012745	Short palpebral fissure	55120	FANCL	ORPHA:84
HP:0012745	Short palpebral fissure	2177	FANCD2	ORPHA:84
HP:0012745	Short palpebral fissure	2175	FANCA	ORPHA:84
HP:0012745	Short palpebral fissure	2187	FANCB	ORPHA:84
HP:0012745	Short palpebral fissure	2176	FANCC	ORPHA:84
HP:0012745	Short palpebral fissure	2178	FANCE	ORPHA:84
HP:0012745	Short palpebral fissure	2188	FANCF	ORPHA:84
HP:0012745	Short palpebral fissure	2189	FANCG	ORPHA:84
HP:0012745	Short palpebral fissure	5888	RAD51	ORPHA:84
HP:0012745	Short palpebral fissure	5889	RAD51C	ORPHA:84
HP:0012745	Short palpebral fissure	55159	RFWD3	ORPHA:84
HP:0012745	Short palpebral fissure	83990	BRIP1	ORPHA:84
HP:0012745	Short palpebral fissure	57697	FANCM	ORPHA:84
HP:0012745	Short palpebral fissure	79728	PALB2	ORPHA:84
HP:0012745	Short palpebral fissure	84464	SLX4	ORPHA:84
HP:0012745	Short palpebral fissure	84464	SLX4	OMIM:613951
HP:0012745	Short palpebral fissure	2072	ERCC4	ORPHA:84
HP:0012745	Short palpebral fissure	55215	FANCI	ORPHA:84
HP:0012745	Short palpebral fissure	3759	KCNJ2	OMIM:170390
HP:0012745	Short palpebral fissure	3759	KCNJ2	ORPHA:37553
HP:0012745	Short palpebral fissure	5077	PAX3	OMIM:148820
HP:0012745	Short palpebral fissure	5422	POLA1	OMIM:301030
HP:0012745	Short palpebral fissure	6899	TBX1	OMIM:188400
HP:0012745	Short palpebral fissure	64919	BCL11B	OMIM:618092
HP:0012745	Short palpebral fissure	64919	BCL11B	OMIM:617237
HP:0012745	Short palpebral fissure	3977	LIFR	OMIM:601559
HP:0012745	Short palpebral fissure	26053	AUTS2	ORPHA:352490
HP:0012745	Short palpebral fissure	26053	AUTS2	OMIM:615834
HP:0012745	Short palpebral fissure	5277	PIGA	OMIM:300868
HP:0012745	Short palpebral fissure	84314	TMEM107	OMIM:617563
HP:0012745	Short palpebral fissure	26040	SETBP1	OMIM:616078
HP:0012745	Short palpebral fissure	3188	HNRNPH2	OMIM:300986
HP:0012745	Short palpebral fissure	4613	MYCN	OMIM:164280
HP:0012745	Short palpebral fissure	4613	MYCN	ORPHA:391641
HP:0012745	Short palpebral fissure	57167	SALL4	ORPHA:959
HP:0012745	Short palpebral fissure	57167	SALL4	ORPHA:233
HP:0012745	Short palpebral fissure	79633	FAT4	OMIM:615546
HP:0012745	Short palpebral fissure	54551	MAGEL2	OMIM:615547
HP:0012745	Short palpebral fissure	89910	UBE3B	ORPHA:2707
HP:0012745	Short palpebral fissure	25942	SIN3A	OMIM:613406
HP:0012745	Short palpebral fissure	8642	DCHS1	OMIM:601390
HP:0012745	Short palpebral fissure	2697	GJA1	OMIM:164200
HP:0012745	Short palpebral fissure	2697	GJA1	OMIM:257850
HP:0012745	Short palpebral fissure	6874	TAF4	OMIM:620450
HP:0012745	Short palpebral fissure	29980	DONSON	OMIM:251230
HP:0012745	Short palpebral fissure	8241	RBM10	OMIM:311900
HP:0012745	Short palpebral fissure	8241	RBM10	ORPHA:2886
HP:0012745	Short palpebral fissure	9935	MAFB	ORPHA:233
HP:0012745	Short palpebral fissure	1123	CHN1	ORPHA:233
HP:0012745	Short palpebral fissure	4593	MUSK	OMIM:208150
HP:0012745	Short palpebral fissure	29957	SLC25A24	OMIM:612289
HP:0012745	Short palpebral fissure	25885	POLR1A	ORPHA:1200
HP:0012745	Short palpebral fissure	10907	TXNL4A	ORPHA:1200
HP:0012745	Short palpebral fissure	10907	TXNL4A	OMIM:608572
HP:0012745	Short palpebral fissure	4659	PPP1R12A	OMIM:618820
HP:0012745	Short palpebral fissure	8239	USP9X	ORPHA:480880
HP:0012745	Short palpebral fissure	8239	USP9X	OMIM:300968
HP:0012745	Short palpebral fissure	81031	SLC2A10	ORPHA:3342
HP:0012745	Short palpebral fissure	81031	SLC2A10	OMIM:208050
HP:0012745	Short palpebral fissure	93986	FOXP2	ORPHA:251061
HP:0012745	Short palpebral fissure	23137	SMC5	OMIM:620185
HP:0012745	Short palpebral fissure	10236	HNRNPR	OMIM:620073
HP:0012745	Short palpebral fissure	6595	SMARCA2	ORPHA:3051
HP:0012745	Short palpebral fissure	203068	TUBB	OMIM:156610
HP:0012745	Short palpebral fissure	8567	MADD	OMIM:619004
HP:0012745	Short palpebral fissure	8567	MADD	OMIM:619005
HP:0012745	Short palpebral fissure	7358	UGDH	OMIM:618792
HP:0012745	Short palpebral fissure	9702	CEP57	OMIM:614114
HP:0012745	Short palpebral fissure	1654	DDX3X	ORPHA:3338
HP:0012745	Short palpebral fissure	3845	KRAS	ORPHA:3339
HP:0012745	Short palpebral fissure	10472	ZBTB18	OMIM:612337
HP:0012745	Short palpebral fissure	64093	SMOC1	OMIM:206920
HP:0012745	Short palpebral fissure	388015	RTL1	ORPHA:96334
HP:0012745	Short palpebral fissure	8788	DLK1	ORPHA:96334
HP:0012745	Short palpebral fissure	55384	MEG3	ORPHA:96334
HP:0012745	Short palpebral fissure	51322	WAC	ORPHA:284169
HP:0012745	Short palpebral fissure	8218	CLTCL1	ORPHA:453510
HP:0012745	Short palpebral fissure	2186	BPTF	OMIM:617755
HP:0012745	Short palpebral fissure	4000	LMNA	ORPHA:1662
HP:0012745	Short palpebral fissure	10269	ZMPSTE24	ORPHA:1662
HP:0012745	Short palpebral fissure	10269	ZMPSTE24	OMIM:275210
HP:0012745	Short palpebral fissure	23219	FBXO28	OMIM:619777
HP:0012745	Short palpebral fissure	4733	DRG1	OMIM:620641
HP:0012745	Short palpebral fissure	23522	KAT6B	ORPHA:3047
HP:0012745	Short palpebral fissure	1387	CREBBP	OMIM:618332
HP:0012745	Short palpebral fissure	6913	TBX15	OMIM:260660
HP:0012745	Short palpebral fissure	55553	SOX6	OMIM:618971
HP:0012745	Short palpebral fissure	2033	EP300	OMIM:618333
HP:0012745	Short palpebral fissure	8621	CDK13	OMIM:617360
HP:0012745	Short palpebral fissure	23404	EXOSC2	OMIM:617763
HP:0012745	Short palpebral fissure	79228	THOC6	OMIM:613680
HP:0012745	Short palpebral fissure	583	BBS2	OMIM:615981
HP:0012745	Short palpebral fissure	2703	GJA8	OMIM:612474
HP:0012745	Short palpebral fissure	2702	GJA5	OMIM:612474
HP:0012745	Short palpebral fissure	10801	SEPTIN9	ORPHA:2901
HP:0012745	Short palpebral fissure	1642	DDB1	OMIM:619426
HP:0012745	Short palpebral fissure	5908	RAP1B	OMIM:620654
HP:0012745	Short palpebral fissure	6664	SOX11	OMIM:615866
HP:0012745	Short palpebral fissure	63895	PIEZO2	ORPHA:2461
HP:0012745	Short palpebral fissure	3516	RBPJ	OMIM:614814
HP:0012745	Short palpebral fissure	246329	STAC3	OMIM:255995
HP:0012745	Short palpebral fissure	3762	KCNJ5	ORPHA:37553
HP:0012745	Short palpebral fissure	4089	SMAD4	ORPHA:2588
HP:0012745	Short palpebral fissure	10075	HUWE1	OMIM:309590
HP:0012746	Thin toenail	4487	MSX1	ORPHA:2228
HP:0012747	Abnormal brainstem MRI signal intensity	23474	ETHE1	ORPHA:51188
HP:0012747	Abnormal brainstem MRI signal intensity	9997	SCO2	OMIM:604377
HP:0012747	Abnormal brainstem MRI signal intensity	9131	AIFM1	ORPHA:83629
HP:0012747	Abnormal brainstem MRI signal intensity	5903	RANBP2	ORPHA:88619
HP:0012747	Abnormal brainstem MRI signal intensity	91574	MTRFR	ORPHA:254930
HP:0012747	Abnormal brainstem MRI signal intensity	80704	SLC19A3	ORPHA:263410
HP:0012747	Abnormal brainstem MRI signal intensity	84705	GTPBP3	ORPHA:444013
HP:0012747	Abnormal brainstem MRI signal intensity	3908	LAMA2	ORPHA:258
HP:0012747	Abnormal brainstem MRI signal intensity	540	ATP7B	ORPHA:905
HP:0012747	Abnormal brainstem MRI signal intensity	54539	NDUFB11	ORPHA:2609
HP:0012747	Abnormal brainstem MRI signal intensity	25915	NDUFAF3	ORPHA:2609
HP:0012747	Abnormal brainstem MRI signal intensity	51103	NDUFAF1	ORPHA:2609
HP:0012747	Abnormal brainstem MRI signal intensity	91942	NDUFAF2	ORPHA:2609
HP:0012747	Abnormal brainstem MRI signal intensity	51300	TIMMDC1	ORPHA:2609
HP:0012747	Abnormal brainstem MRI signal intensity	4716	NDUFB10	ORPHA:2609
HP:0012747	Abnormal brainstem MRI signal intensity	4723	NDUFV1	ORPHA:2609
HP:0012747	Abnormal brainstem MRI signal intensity	55572	FOXRED1	ORPHA:2609
HP:0012747	Abnormal brainstem MRI signal intensity	284184	NDUFAF8	ORPHA:2609
HP:0012747	Abnormal brainstem MRI signal intensity	55863	TMEM126B	ORPHA:2609
HP:0012747	Abnormal brainstem MRI signal intensity	4535	MT-ND1	ORPHA:2609
HP:0012747	Abnormal brainstem MRI signal intensity	4537	MT-ND3	ORPHA:2609
HP:0012747	Abnormal brainstem MRI signal intensity	4729	NDUFV2	ORPHA:2609
HP:0012747	Abnormal brainstem MRI signal intensity	4694	NDUFA1	ORPHA:2609
HP:0012747	Abnormal brainstem MRI signal intensity	4720	NDUFS2	ORPHA:2609
HP:0012747	Abnormal brainstem MRI signal intensity	4724	NDUFS4	ORPHA:2609
HP:0012747	Abnormal brainstem MRI signal intensity	4726	NDUFS6	ORPHA:2609
HP:0012747	Abnormal brainstem MRI signal intensity	4728	NDUFS8	ORPHA:2609
HP:0012747	Abnormal brainstem MRI signal intensity	4722	NDUFS3	ORPHA:2609
HP:0012747	Abnormal brainstem MRI signal intensity	79133	NDUFAF5	ORPHA:2609
HP:0012747	Abnormal brainstem MRI signal intensity	126328	NDUFA11	ORPHA:2609
HP:0012747	Abnormal brainstem MRI signal intensity	4709	NDUFB3	ORPHA:2609
HP:0012747	Abnormal brainstem MRI signal intensity	80224	NUBPL	ORPHA:2609
HP:0012747	Abnormal brainstem MRI signal intensity	29078	NDUFAF4	ORPHA:2609
HP:0012747	Abnormal brainstem MRI signal intensity	374291	NDUFS7	ORPHA:2609
HP:0012747	Abnormal brainstem MRI signal intensity	4700	NDUFA6	ORPHA:2609
HP:0012747	Abnormal brainstem MRI signal intensity	4536	MT-ND2	ORPHA:2609
HP:0012747	Abnormal brainstem MRI signal intensity	4719	NDUFS1	ORPHA:2609
HP:0012747	Abnormal brainstem MRI signal intensity	4715	NDUFB9	ORPHA:2609
HP:0012747	Abnormal brainstem MRI signal intensity	11235	PDCD10	ORPHA:221061
HP:0012747	Abnormal brainstem MRI signal intensity	5290	PIK3CA	ORPHA:221061
HP:0012747	Abnormal brainstem MRI signal intensity	83605	CCM2	ORPHA:221061
HP:0012747	Abnormal brainstem MRI signal intensity	889	KRIT1	ORPHA:221061
HP:0012748	Focal T2 hyperintense brainstem lesion	540	ATP7B	ORPHA:905
HP:0012748	Focal T2 hyperintense brainstem lesion	54539	NDUFB11	ORPHA:2609
HP:0012748	Focal T2 hyperintense brainstem lesion	25915	NDUFAF3	ORPHA:2609
HP:0012748	Focal T2 hyperintense brainstem lesion	51103	NDUFAF1	ORPHA:2609
HP:0012748	Focal T2 hyperintense brainstem lesion	91942	NDUFAF2	ORPHA:2609
HP:0012748	Focal T2 hyperintense brainstem lesion	51300	TIMMDC1	ORPHA:2609
HP:0012748	Focal T2 hyperintense brainstem lesion	4716	NDUFB10	ORPHA:2609
HP:0012748	Focal T2 hyperintense brainstem lesion	4723	NDUFV1	ORPHA:2609
HP:0012748	Focal T2 hyperintense brainstem lesion	55572	FOXRED1	ORPHA:2609
HP:0012748	Focal T2 hyperintense brainstem lesion	284184	NDUFAF8	ORPHA:2609
HP:0012748	Focal T2 hyperintense brainstem lesion	55863	TMEM126B	ORPHA:2609
HP:0012748	Focal T2 hyperintense brainstem lesion	4535	MT-ND1	ORPHA:2609
HP:0012748	Focal T2 hyperintense brainstem lesion	4537	MT-ND3	ORPHA:2609
HP:0012748	Focal T2 hyperintense brainstem lesion	4729	NDUFV2	ORPHA:2609
HP:0012748	Focal T2 hyperintense brainstem lesion	4694	NDUFA1	ORPHA:2609
HP:0012748	Focal T2 hyperintense brainstem lesion	4720	NDUFS2	ORPHA:2609
HP:0012748	Focal T2 hyperintense brainstem lesion	4724	NDUFS4	ORPHA:2609
HP:0012748	Focal T2 hyperintense brainstem lesion	4726	NDUFS6	ORPHA:2609
HP:0012748	Focal T2 hyperintense brainstem lesion	4728	NDUFS8	ORPHA:2609
HP:0012748	Focal T2 hyperintense brainstem lesion	4722	NDUFS3	ORPHA:2609
HP:0012748	Focal T2 hyperintense brainstem lesion	79133	NDUFAF5	ORPHA:2609
HP:0012748	Focal T2 hyperintense brainstem lesion	126328	NDUFA11	ORPHA:2609
HP:0012748	Focal T2 hyperintense brainstem lesion	4709	NDUFB3	ORPHA:2609
HP:0012748	Focal T2 hyperintense brainstem lesion	80224	NUBPL	ORPHA:2609
HP:0012748	Focal T2 hyperintense brainstem lesion	29078	NDUFAF4	ORPHA:2609
HP:0012748	Focal T2 hyperintense brainstem lesion	374291	NDUFS7	ORPHA:2609
HP:0012748	Focal T2 hyperintense brainstem lesion	4700	NDUFA6	ORPHA:2609
HP:0012748	Focal T2 hyperintense brainstem lesion	4536	MT-ND2	ORPHA:2609
HP:0012748	Focal T2 hyperintense brainstem lesion	4719	NDUFS1	ORPHA:2609
HP:0012748	Focal T2 hyperintense brainstem lesion	4715	NDUFB9	ORPHA:2609
HP:0012748	Focal T2 hyperintense brainstem lesion	11235	PDCD10	ORPHA:221061
HP:0012748	Focal T2 hyperintense brainstem lesion	5290	PIK3CA	ORPHA:221061
HP:0012748	Focal T2 hyperintense brainstem lesion	83605	CCM2	ORPHA:221061
HP:0012748	Focal T2 hyperintense brainstem lesion	889	KRIT1	ORPHA:221061
HP:0012741	Unilateral cryptorchidism	64132	XYLT2	OMIM:605822
HP:0012741	Unilateral cryptorchidism	745	MYRF	OMIM:618280
HP:0012741	Unilateral cryptorchidism	4784	NFIX	ORPHA:447980
HP:0012741	Unilateral cryptorchidism	104	ADARB1	OMIM:618862
HP:0012741	Unilateral cryptorchidism	90121	TSR2	OMIM:300946
HP:0012741	Unilateral cryptorchidism	4781	NFIB	OMIM:618286
HP:0012741	Unilateral cryptorchidism	51111	KMT5B	OMIM:617788
HP:0012741	Unilateral cryptorchidism	3481	IGF2	OMIM:616489
HP:0012741	Unilateral cryptorchidism	83479	DDX59	OMIM:174300
HP:0012741	Unilateral cryptorchidism	6736	SRY	ORPHA:1772
HP:0012741	Unilateral cryptorchidism	84282	RNF135	ORPHA:137634
HP:0012741	Unilateral cryptorchidism	64093	SMOC1	OMIM:206920
HP:0012741	Unilateral cryptorchidism	3229	HOXC13	OMIM:614931
HP:0012741	Unilateral cryptorchidism	25942	SIN3A	OMIM:613406
HP:0012741	Unilateral cryptorchidism	3640	INSL3	OMIM:219050
HP:0012742	Thin fingernail	267010	RNU12	ORPHA:85199
HP:0012742	Thin fingernail	51360	MBTPS2	ORPHA:2273
HP:0012743	Abdominal obesity	55599	RNPC3	OMIM:618160
HP:0012743	Abdominal obesity	641	BLM	ORPHA:125
HP:0012743	Abdominal obesity	8450	CUL4B	OMIM:300354
HP:0012743	Abdominal obesity	84196	USP48	ORPHA:96253
HP:0012743	Abdominal obesity	7157	TP53	ORPHA:96253
HP:0012743	Abdominal obesity	9101	USP8	ORPHA:96253
HP:0012743	Abdominal obesity	9101	USP8	OMIM:219090
HP:0012743	Abdominal obesity	64072	CDH23	ORPHA:96253
HP:0012743	Abdominal obesity	2908	NR3C1	ORPHA:96253
HP:0012743	Abdominal obesity	673	BRAF	ORPHA:96253
HP:0012743	Abdominal obesity	546	ATRX	ORPHA:96253
HP:0012743	Abdominal obesity	3991	LIPE	OMIM:615980
HP:0012743	Abdominal obesity	79576	NKAP	OMIM:301039
HP:0012743	Abdominal obesity	8882	ZPR1	OMIM:619321
HP:0012743	Abdominal obesity	79798	ARMC5	ORPHA:189427
HP:0012743	Abdominal obesity	79798	ARMC5	OMIM:615954
HP:0012743	Abdominal obesity	23028	KDM1A	ORPHA:189427
HP:0012743	Abdominal obesity	2778	GNAS	ORPHA:189427
HP:0012743	Abdominal obesity	6492	SIM1	ORPHA:398079
HP:0012743	Abdominal obesity	54551	MAGEL2	ORPHA:398069
HP:0012743	Abdominal obesity	54551	MAGEL2	OMIM:176270
HP:0012743	Abdominal obesity	9149	DYRK1B	OMIM:615812
HP:0012743	Abdominal obesity	9049	AIP	OMIM:219090
HP:0012743	Abdominal obesity	84100	ARL6	OMIM:209900
HP:0012743	Abdominal obesity	79140	CCDC28B	OMIM:209900
HP:0012743	Abdominal obesity	582	BBS1	OMIM:209900
HP:0012743	Abdominal obesity	100033413	SNORD116-1	OMIM:176270
HP:0012743	Abdominal obesity	8924	HERC2	OMIM:176270
HP:0012743	Abdominal obesity	23742	NPAP1	OMIM:176270
HP:0012743	Abdominal obesity	338433	SNORD115-1	OMIM:176270
HP:0012743	Abdominal obesity	7681	MKRN3	OMIM:176270
HP:0012743	Abdominal obesity	145624	PWAR1	OMIM:176270
HP:0012743	Abdominal obesity	3653	IPW	OMIM:176270
HP:0012743	Abdominal obesity	791114	PWRN1	OMIM:176270
HP:0012743	Abdominal obesity	5573	PRKAR1A	ORPHA:1359
HP:0012743	Abdominal obesity	50940	PDE11A	ORPHA:1359
HP:0033578	Pre-capillary pulmonary hypertension	94	ACVRL1	OMIM:600376
HP:0033578	Pre-capillary pulmonary hypertension	94	ACVRL1	ORPHA:774
HP:0033578	Pre-capillary pulmonary hypertension	4702	NDUFA8	OMIM:619272
HP:0033578	Pre-capillary pulmonary hypertension	4352	MPL	ORPHA:71493
HP:0033578	Pre-capillary pulmonary hypertension	7066	THPO	ORPHA:71493
HP:0033578	Pre-capillary pulmonary hypertension	3717	JAK2	ORPHA:71493
HP:0033578	Pre-capillary pulmonary hypertension	2294	FOXF1	OMIM:265380
HP:0033578	Pre-capillary pulmonary hypertension	2294	FOXF1	ORPHA:210122
HP:0033578	Pre-capillary pulmonary hypertension	4558	MT-TF	ORPHA:550
HP:0033578	Pre-capillary pulmonary hypertension	4572	MT-TQ	ORPHA:550
HP:0033578	Pre-capillary pulmonary hypertension	4512	MT-CO1	ORPHA:550
HP:0033578	Pre-capillary pulmonary hypertension	4513	MT-CO2	ORPHA:550
HP:0033578	Pre-capillary pulmonary hypertension	4514	MT-CO3	ORPHA:550
HP:0033578	Pre-capillary pulmonary hypertension	4578	MT-TW	ORPHA:550
HP:0033578	Pre-capillary pulmonary hypertension	4540	MT-ND5	ORPHA:550
HP:0033578	Pre-capillary pulmonary hypertension	4541	MT-ND6	ORPHA:550
HP:0033578	Pre-capillary pulmonary hypertension	4535	MT-ND1	ORPHA:550
HP:0033578	Pre-capillary pulmonary hypertension	4538	MT-ND4	ORPHA:550
HP:0033578	Pre-capillary pulmonary hypertension	4567	MT-TL1	ORPHA:550
HP:0033578	Pre-capillary pulmonary hypertension	4574	MT-TS1	ORPHA:550
HP:0033578	Pre-capillary pulmonary hypertension	4575	MT-TS2	ORPHA:550
HP:0033578	Pre-capillary pulmonary hypertension	4564	MT-TH	ORPHA:550
HP:0033578	Pre-capillary pulmonary hypertension	7428	VHL	OMIM:263400
HP:0033578	Pre-capillary pulmonary hypertension	79717	PPCS	OMIM:618189
HP:0033578	Pre-capillary pulmonary hypertension	26235	FBXL4	OMIM:615471
HP:0033578	Pre-capillary pulmonary hypertension	776	CACNA1D	OMIM:615474
HP:0033578	Pre-capillary pulmonary hypertension	776	CACNA1D	ORPHA:369929
HP:0033578	Pre-capillary pulmonary hypertension	498	ATP5F1A	OMIM:616045
HP:0033578	Pre-capillary pulmonary hypertension	775	CACNA1C	OMIM:620029
HP:0033578	Pre-capillary pulmonary hypertension	775	CACNA1C	OMIM:601005
HP:0033578	Pre-capillary pulmonary hypertension	81857	MED25	OMIM:616449
HP:0033578	Pre-capillary pulmonary hypertension	81857	MED25	ORPHA:464738
HP:0033578	Pre-capillary pulmonary hypertension	3875	KRT18	OMIM:215600
HP:0033578	Pre-capillary pulmonary hypertension	8854	ALDH1A2	OMIM:620025
HP:0033578	Pre-capillary pulmonary hypertension	90459	ERI1	OMIM:620663
HP:0033578	Pre-capillary pulmonary hypertension	1277	COL1A1	OMIM:259420
HP:0033578	Pre-capillary pulmonary hypertension	1278	COL1A2	OMIM:259420
HP:0033578	Pre-capillary pulmonary hypertension	1235	CCR6	ORPHA:220402
HP:0033578	Pre-capillary pulmonary hypertension	1235	CCR6	ORPHA:220393
HP:0033578	Pre-capillary pulmonary hypertension	79932	KIAA0319L	ORPHA:220402
HP:0033578	Pre-capillary pulmonary hypertension	1490	CCN2	ORPHA:220402
HP:0033578	Pre-capillary pulmonary hypertension	1490	CCN2	ORPHA:220393
HP:0033578	Pre-capillary pulmonary hypertension	3663	IRF5	ORPHA:220402
HP:0033578	Pre-capillary pulmonary hypertension	3663	IRF5	ORPHA:220393
HP:0033578	Pre-capillary pulmonary hypertension	857	CAV1	ORPHA:220402
HP:0033578	Pre-capillary pulmonary hypertension	857	CAV1	OMIM:606721
HP:0033578	Pre-capillary pulmonary hypertension	857	CAV1	OMIM:615343
HP:0033578	Pre-capillary pulmonary hypertension	857	CAV1	ORPHA:220393
HP:0033578	Pre-capillary pulmonary hypertension	3123	HLA-DRB1	ORPHA:220402
HP:0033578	Pre-capillary pulmonary hypertension	3123	HLA-DRB1	OMIM:181000
HP:0033578	Pre-capillary pulmonary hypertension	3123	HLA-DRB1	ORPHA:220393
HP:0033578	Pre-capillary pulmonary hypertension	411	ARSB	OMIM:253200
HP:0033578	Pre-capillary pulmonary hypertension	10312	TCIRG1	ORPHA:667
HP:0033578	Pre-capillary pulmonary hypertension	1186	CLCN7	ORPHA:667
HP:0033578	Pre-capillary pulmonary hypertension	29887	SNX10	ORPHA:667
HP:0033578	Pre-capillary pulmonary hypertension	8600	TNFSF11	ORPHA:667
HP:0033578	Pre-capillary pulmonary hypertension	27125	AFF4	ORPHA:444077
HP:0033578	Pre-capillary pulmonary hypertension	4784	NFIX	ORPHA:447980
HP:0033578	Pre-capillary pulmonary hypertension	4784	NFIX	OMIM:602535
HP:0033578	Pre-capillary pulmonary hypertension	55315	SLC29A3	OMIM:602782
HP:0033578	Pre-capillary pulmonary hypertension	1349	COX7B	OMIM:300887
HP:0033578	Pre-capillary pulmonary hypertension	23395	LARS2	OMIM:617021
HP:0033578	Pre-capillary pulmonary hypertension	727897	MUC5B	OMIM:178500
HP:0033578	Pre-capillary pulmonary hypertension	6440	SFTPC	OMIM:178500
HP:0033578	Pre-capillary pulmonary hypertension	6440	SFTPC	OMIM:610913
HP:0033578	Pre-capillary pulmonary hypertension	729238	SFTPA2	OMIM:178500
HP:0033578	Pre-capillary pulmonary hypertension	7015	TERT	OMIM:178500
HP:0033578	Pre-capillary pulmonary hypertension	51601	LIPT1	OMIM:616299
HP:0033578	Pre-capillary pulmonary hypertension	440275	EIF2AK4	OMIM:234810
HP:0033578	Pre-capillary pulmonary hypertension	30008	EFEMP2	OMIM:614437
HP:0033578	Pre-capillary pulmonary hypertension	5698	PSMB9	OMIM:620796
HP:0033578	Pre-capillary pulmonary hypertension	3908	LAMA2	ORPHA:258
HP:0033578	Pre-capillary pulmonary hypertension	9382	COG1	ORPHA:263508
HP:0033578	Pre-capillary pulmonary hypertension	6439	SFTPB	OMIM:265120
HP:0033578	Pre-capillary pulmonary hypertension	6439	SFTPB	ORPHA:217563
HP:0033578	Pre-capillary pulmonary hypertension	1340	COX6B1	OMIM:619051
HP:0033578	Pre-capillary pulmonary hypertension	2022	ENG	OMIM:187300
HP:0033578	Pre-capillary pulmonary hypertension	2022	ENG	ORPHA:774
HP:0033578	Pre-capillary pulmonary hypertension	65082	VPS33A	ORPHA:505248
HP:0033578	Pre-capillary pulmonary hypertension	1351	COX8A	OMIM:619059
HP:0033578	Pre-capillary pulmonary hypertension	50619	DEF6	OMIM:619573
HP:0033578	Pre-capillary pulmonary hypertension	79572	ATP13A3	OMIM:265400
HP:0033578	Pre-capillary pulmonary hypertension	8260	NAA10	OMIM:300855
HP:0033578	Pre-capillary pulmonary hypertension	9469	CHST3	OMIM:143095
HP:0033578	Pre-capillary pulmonary hypertension	9968	MED12	ORPHA:93932
HP:0033578	Pre-capillary pulmonary hypertension	92579	G6PC3	OMIM:612541
HP:0033578	Pre-capillary pulmonary hypertension	56244	BTNL2	OMIM:612387
HP:0033578	Pre-capillary pulmonary hypertension	2260	FGFR1	ORPHA:2396
HP:0033578	Pre-capillary pulmonary hypertension	3845	KRAS	ORPHA:2396
HP:0033578	Pre-capillary pulmonary hypertension	7080	NKX2-1	ORPHA:209905
HP:0033578	Pre-capillary pulmonary hypertension	55750	AGK	OMIM:212350
HP:0033578	Pre-capillary pulmonary hypertension	9377	COX5A	OMIM:619064
HP:0033578	Pre-capillary pulmonary hypertension	9496	TBX4	ORPHA:261279
HP:0033578	Pre-capillary pulmonary hypertension	9896	FIG4	ORPHA:3472
HP:0033578	Pre-capillary pulmonary hypertension	9896	FIG4	OMIM:216340
HP:0033578	Pre-capillary pulmonary hypertension	55697	VAC14	ORPHA:3472
HP:0033578	Pre-capillary pulmonary hypertension	3977	LIFR	OMIM:601559
HP:0033578	Pre-capillary pulmonary hypertension	659	BMPR2	OMIM:178600
HP:0033578	Pre-capillary pulmonary hypertension	659	BMPR2	OMIM:265450
HP:0033578	Pre-capillary pulmonary hypertension	5826	ABCD4	OMIM:614857
HP:0033578	Pre-capillary pulmonary hypertension	3425	IDUA	OMIM:607015
HP:0033578	Pre-capillary pulmonary hypertension	4763	NF1	ORPHA:97685
HP:0033578	Pre-capillary pulmonary hypertension	760	CA2	ORPHA:2785
HP:0033578	Pre-capillary pulmonary hypertension	10370	CITED2	ORPHA:99105
HP:0033578	Pre-capillary pulmonary hypertension	10370	CITED2	ORPHA:99103
HP:0033578	Pre-capillary pulmonary hypertension	7092	TLL1	ORPHA:99106
HP:0033578	Pre-capillary pulmonary hypertension	7092	TLL1	ORPHA:99103
HP:0033578	Pre-capillary pulmonary hypertension	3043	HBB	ORPHA:232
HP:0033578	Pre-capillary pulmonary hypertension	3043	HBB	ORPHA:231222
HP:0033578	Pre-capillary pulmonary hypertension	57057	TBX20	ORPHA:99103
HP:0033578	Pre-capillary pulmonary hypertension	4624	MYH6	ORPHA:99103
HP:0033578	Pre-capillary pulmonary hypertension	1482	NKX2-5	ORPHA:99103
HP:0033578	Pre-capillary pulmonary hypertension	70	ACTC1	ORPHA:99103
HP:0033578	Pre-capillary pulmonary hypertension	2626	GATA4	ORPHA:99103
HP:0033578	Pre-capillary pulmonary hypertension	2627	GATA6	ORPHA:99103
HP:0033578	Pre-capillary pulmonary hypertension	2627	GATA6	OMIM:614475
HP:0033578	Pre-capillary pulmonary hypertension	7840	ALMS1	ORPHA:64
HP:0033578	Pre-capillary pulmonary hypertension	6772	STAT1	ORPHA:391487
HP:0033578	Pre-capillary pulmonary hypertension	3572	IL6ST	OMIM:619751
HP:0033578	Pre-capillary pulmonary hypertension	2261	FGFR3	OMIM:616482
HP:0033578	Pre-capillary pulmonary hypertension	10664	CTCF	ORPHA:363611
HP:0033578	Pre-capillary pulmonary hypertension	10526	IPO8	OMIM:619472
HP:0033578	Pre-capillary pulmonary hypertension	5167	ENPP1	ORPHA:51608
HP:0033578	Pre-capillary pulmonary hypertension	368	ABCC6	ORPHA:51608
HP:0033578	Pre-capillary pulmonary hypertension	2200	FBN1	OMIM:614185
HP:0033578	Pre-capillary pulmonary hypertension	4607	MYBPC3	OMIM:615396
HP:0033578	Pre-capillary pulmonary hypertension	7414	VCL	OMIM:613255
HP:0033578	Pre-capillary pulmonary hypertension	29957	SLC25A24	OMIM:612289
HP:0033578	Pre-capillary pulmonary hypertension	57514	ARHGAP31	OMIM:100300
HP:0033578	Pre-capillary pulmonary hypertension	57514	ARHGAP31	ORPHA:974
HP:0033578	Pre-capillary pulmonary hypertension	9719	ADAMTSL2	OMIM:231050
HP:0033578	Pre-capillary pulmonary hypertension	8085	KMT2D	OMIM:620186
HP:0033578	Pre-capillary pulmonary hypertension	8085	KMT2D	OMIM:147920
HP:0033578	Pre-capillary pulmonary hypertension	8517	IKBKG	ORPHA:464
HP:0033578	Pre-capillary pulmonary hypertension	4000	LMNA	ORPHA:740
HP:0033578	Pre-capillary pulmonary hypertension	10269	ZMPSTE24	ORPHA:740
HP:0033578	Pre-capillary pulmonary hypertension	23556	PIGN	ORPHA:280633
HP:0033578	Pre-capillary pulmonary hypertension	4716	NDUFB10	OMIM:619003
HP:0033578	Pre-capillary pulmonary hypertension	2629	GBA1	OMIM:230800
HP:0033578	Pre-capillary pulmonary hypertension	2629	GBA1	ORPHA:2072
HP:0033578	Pre-capillary pulmonary hypertension	2629	GBA1	ORPHA:77261
HP:0033578	Pre-capillary pulmonary hypertension	2629	GBA1	ORPHA:77259
HP:0033578	Pre-capillary pulmonary hypertension	374879	ZNF699	OMIM:619488
HP:0033578	Pre-capillary pulmonary hypertension	27086	FOXP1	ORPHA:391372
HP:0033578	Pre-capillary pulmonary hypertension	4256	MGP	ORPHA:85202
HP:0033578	Pre-capillary pulmonary hypertension	50485	SMARCAL1	ORPHA:1830
HP:0033578	Pre-capillary pulmonary hypertension	50485	SMARCAL1	OMIM:242900
HP:0033578	Pre-capillary pulmonary hypertension	8292	COLQ	ORPHA:98915
HP:0033578	Pre-capillary pulmonary hypertension	3913	LAMB2	ORPHA:98915
HP:0033578	Pre-capillary pulmonary hypertension	4625	MYH7	OMIM:613426
HP:0033578	Pre-capillary pulmonary hypertension	388015	RTL1	ORPHA:96334
HP:0033578	Pre-capillary pulmonary hypertension	8788	DLK1	ORPHA:96334
HP:0033578	Pre-capillary pulmonary hypertension	55384	MEG3	ORPHA:96334
HP:0033578	Pre-capillary pulmonary hypertension	10551	AGR2	OMIM:620233
HP:0033578	Pre-capillary pulmonary hypertension	3516	RBPJ	ORPHA:974
HP:0033578	Pre-capillary pulmonary hypertension	4851	NOTCH1	ORPHA:974
HP:0033578	Pre-capillary pulmonary hypertension	4851	NOTCH1	OMIM:616028
HP:0033578	Pre-capillary pulmonary hypertension	57572	DOCK6	ORPHA:974
HP:0033578	Pre-capillary pulmonary hypertension	285203	EOGT	ORPHA:974
HP:0033578	Pre-capillary pulmonary hypertension	54567	DLL4	ORPHA:974
HP:0033578	Pre-capillary pulmonary hypertension	2658	GDF2	ORPHA:774
HP:0033578	Pre-capillary pulmonary hypertension	4089	SMAD4	ORPHA:774
HP:0033578	Pre-capillary pulmonary hypertension	6123	RPL3L	OMIM:619371
HP:0033578	Pre-capillary pulmonary hypertension	79989	IFT56	OMIM:619534
HP:0033578	Pre-capillary pulmonary hypertension	8815	BANF1	OMIM:614008
HP:0033578	Pre-capillary pulmonary hypertension	5236	PGM1	OMIM:614921
HP:0033578	Pre-capillary pulmonary hypertension	25974	MMACHC	ORPHA:79282
HP:0033578	Pre-capillary pulmonary hypertension	25974	MMACHC	OMIM:277400
HP:0033578	Pre-capillary pulmonary hypertension	5557	PRIM1	OMIM:620005
HP:0033578	Pre-capillary pulmonary hypertension	21	ABCA3	ORPHA:217563
HP:0033578	Pre-capillary pulmonary hypertension	59	ACTA2	OMIM:613834
HP:0033578	Pre-capillary pulmonary hypertension	3593	IL12B	ORPHA:3287
HP:0033578	Pre-capillary pulmonary hypertension	3106	HLA-B	ORPHA:3287
HP:0033578	Pre-capillary pulmonary hypertension	6945	MLX	ORPHA:3287
HP:0033578	Pre-capillary pulmonary hypertension	79645	CLXN	OMIM:620642
HP:0033578	Pre-capillary pulmonary hypertension	64127	NOD2	ORPHA:90340
HP:0033578	Pre-capillary pulmonary hypertension	55901	THSD1	OMIM:620244
HP:0033578	Pre-capillary pulmonary hypertension	3339	HSPG2	ORPHA:800
HP:0033578	Pre-capillary pulmonary hypertension	2542	SLC37A4	OMIM:232240
HP:0033578	Pre-capillary pulmonary hypertension	6910	TBX5	OMIM:142900
HP:0033578	Pre-capillary pulmonary hypertension	27247	NFU1	OMIM:605711
HP:0033578	Pre-capillary pulmonary hypertension	8295	TRRAP	OMIM:618454
HP:0033578	Pre-capillary pulmonary hypertension	93233	ODAD1	OMIM:615067
HP:0033578	Pre-capillary pulmonary hypertension	4093	SMAD9	OMIM:615342
HP:0033578	Pre-capillary pulmonary hypertension	51025	PAM16	OMIM:613320
HP:0033578	Pre-capillary pulmonary hypertension	2316	FLNA	OMIM:309350
HP:0033578	Pre-capillary pulmonary hypertension	3777	KCNK3	OMIM:615344
HP:0033578	Pre-capillary pulmonary hypertension	23590	PDSS1	OMIM:614651
HP:0033578	Pre-capillary pulmonary hypertension	826	CAPNS1	OMIM:620777
HP:0033578	Pre-capillary pulmonary hypertension	7319	UBE2A	ORPHA:163956
HP:0033578	Pre-capillary pulmonary hypertension	54938	SARS2	OMIM:613845
HP:0033578	Pre-capillary pulmonary hypertension	389827	MYMK	OMIM:254940
HP:0033578	Pre-capillary pulmonary hypertension	5052	PRDX1	OMIM:277400
HP:0033578	Pre-capillary pulmonary hypertension	950	SCARB2	ORPHA:77259
HP:0033578	Pre-capillary pulmonary hypertension	7403	KDM6A	OMIM:147920
HP:0033579	Decreased growth hormone responses to growth hormone-releasing hormone challenge	5443	POMC	OMIM:609734
HP:0033579	Decreased growth hormone responses to growth hormone-releasing hormone challenge	5573	PRKAR1A	OMIM:101800
HP:0007440	Generalized hyperpigmentation	4158	MC2R	OMIM:202200
HP:0007440	Generalized hyperpigmentation	4158	MC2R	ORPHA:361
HP:0007440	Generalized hyperpigmentation	1583	CYP11A1	ORPHA:168558
HP:0007440	Generalized hyperpigmentation	1583	CYP11A1	ORPHA:289548
HP:0007440	Generalized hyperpigmentation	5604	MAP2K1	ORPHA:1340
HP:0007440	Generalized hyperpigmentation	5605	MAP2K2	ORPHA:1340
HP:0007440	Generalized hyperpigmentation	3845	KRAS	ORPHA:1340
HP:0007440	Generalized hyperpigmentation	3845	KRAS	ORPHA:3339
HP:0007440	Generalized hyperpigmentation	673	BRAF	ORPHA:1340
HP:0007440	Generalized hyperpigmentation	3643	INSR	ORPHA:2297
HP:0007440	Generalized hyperpigmentation	5080	PAX6	ORPHA:2253
HP:0007440	Generalized hyperpigmentation	51750	RTEL1	ORPHA:3322
HP:0007440	Generalized hyperpigmentation	65057	ACD	ORPHA:3322
HP:0007440	Generalized hyperpigmentation	5073	PARN	ORPHA:3322
HP:0007440	Generalized hyperpigmentation	7015	TERT	ORPHA:3322
HP:0007440	Generalized hyperpigmentation	26277	TINF2	ORPHA:3322
HP:0007440	Generalized hyperpigmentation	1736	DKC1	ORPHA:3322
HP:0007440	Generalized hyperpigmentation	29926	GMPPA	ORPHA:869
HP:0007440	Generalized hyperpigmentation	60684	TRAPPC11	ORPHA:869
HP:0007440	Generalized hyperpigmentation	8086	AAAS	ORPHA:869
HP:0007440	Generalized hyperpigmentation	83550	GPR101	ORPHA:963
HP:0007440	Generalized hyperpigmentation	9049	AIP	ORPHA:963
HP:0007440	Generalized hyperpigmentation	207	AKT1	ORPHA:744
HP:0007440	Generalized hyperpigmentation	3265	HRAS	ORPHA:3071
HP:0007440	Generalized hyperpigmentation	56246	MRAP	ORPHA:361
HP:0007440	Generalized hyperpigmentation	6770	STAR	ORPHA:361
HP:0007440	Generalized hyperpigmentation	23530	NNT	ORPHA:361
HP:0007440	Generalized hyperpigmentation	10587	TXNRD2	ORPHA:361
HP:0007440	Generalized hyperpigmentation	4644	MYO5A	ORPHA:33445
HP:0007440	Generalized hyperpigmentation	10457	GPNMB	OMIM:617920
HP:0007440	Generalized hyperpigmentation	224	ALDH3A2	ORPHA:816
HP:0007440	Generalized hyperpigmentation	57817	HAMP	ORPHA:79230
HP:0007440	Generalized hyperpigmentation	148738	HJV	ORPHA:79230
HP:0007440	Generalized hyperpigmentation	526	ATP6V1B2	ORPHA:3473
HP:0007440	Generalized hyperpigmentation	3756	KCNH1	ORPHA:3473
HP:0007440	Generalized hyperpigmentation	3782	KCNN3	ORPHA:3473
HP:0007440	Generalized hyperpigmentation	3662	IRF4	ORPHA:3452
HP:0007440	Generalized hyperpigmentation	654	BMP6	ORPHA:465508
HP:0007440	Generalized hyperpigmentation	3077	HFE	ORPHA:465508
HP:0007440	Generalized hyperpigmentation	3852	KRT5	ORPHA:158681
HP:0007440	Generalized hyperpigmentation	3852	KRT5	ORPHA:79396
HP:0007440	Generalized hyperpigmentation	3861	KRT14	ORPHA:69087
HP:0007440	Generalized hyperpigmentation	3861	KRT14	ORPHA:79396
HP:0007440	Generalized hyperpigmentation	5422	POLA1	OMIM:301220
HP:0033581	Absent peripheral lymph nodes in presence of infection	3718	JAK3	OMIM:600802
HP:0033581	Absent peripheral lymph nodes in presence of infection	8517	IKBKG	ORPHA:98813
HP:0033581	Absent peripheral lymph nodes in presence of infection	4792	NFKBIA	ORPHA:98813
HP:0033582	Pulmonary interstitial lymphocyte infiltration	3115	HLA-DPB1	ORPHA:133
HP:0033582	Pulmonary interstitial lymphocyte infiltration	6777	STAT5B	OMIM:245590
HP:0033582	Pulmonary interstitial lymphocyte infiltration	3560	IL2RB	OMIM:618495
HP:0033582	Pulmonary interstitial lymphocyte infiltration	3559	IL2RA	OMIM:606367
HP:0033584	Nonspecific interstitial pneumonia	21	ABCA3	OMIM:610921
HP:0033584	Nonspecific interstitial pneumonia	653509	SFTPA1	OMIM:619611
HP:0033584	Nonspecific interstitial pneumonia	6440	SFTPC	OMIM:610913
HP:0025031	Abnormality of the digestive system	268	AMH	ORPHA:2856
HP:0025031	Abnormality of the digestive system	268	AMH	OMIM:261550
HP:0025031	Abnormality of the digestive system	269	AMHR2	ORPHA:2856
HP:0025031	Abnormality of the digestive system	269	AMHR2	OMIM:261550
HP:0025031	Abnormality of the digestive system	65267	WNK3	OMIM:309610
HP:0025031	Abnormality of the digestive system	64175	P3H1	OMIM:610915
HP:0025031	Abnormality of the digestive system	23347	SMCHD1	OMIM:603457
HP:0025031	Abnormality of the digestive system	23347	SMCHD1	ORPHA:2250
HP:0025031	Abnormality of the digestive system	1501	CTNND2	ORPHA:281
HP:0025031	Abnormality of the digestive system	9037	SEMA5A	ORPHA:281
HP:0025031	Abnormality of the digestive system	5337	PLD1	OMIM:212093
HP:0025031	Abnormality of the digestive system	339983	NAT8L	OMIM:614063
HP:0025031	Abnormality of the digestive system	7531	YWHAE	ORPHA:217385
HP:0025031	Abnormality of the digestive system	6134	RPL10	ORPHA:459070
HP:0025031	Abnormality of the digestive system	6134	RPL10	OMIM:300998
HP:0025031	Abnormality of the digestive system	9158	FIBP	OMIM:617107
HP:0025031	Abnormality of the digestive system	9158	FIBP	ORPHA:500095
HP:0025031	Abnormality of the digestive system	30008	EFEMP2	ORPHA:90349
HP:0025031	Abnormality of the digestive system	30008	EFEMP2	OMIM:614437
HP:0025031	Abnormality of the digestive system	7046	TGFBR1	OMIM:609192
HP:0025031	Abnormality of the digestive system	7046	TGFBR1	ORPHA:91387
HP:0025031	Abnormality of the digestive system	1801	DPH1	ORPHA:459061
HP:0025031	Abnormality of the digestive system	1802	DPH2	ORPHA:459061
HP:0025031	Abnormality of the digestive system	170689	ADAMTS15	OMIM:620545
HP:0025031	Abnormality of the digestive system	90459	ERI1	OMIM:620662
HP:0025031	Abnormality of the digestive system	2202	EFEMP1	OMIM:620780
HP:0025031	Abnormality of the digestive system	2972	BRF1	ORPHA:444072
HP:0025031	Abnormality of the digestive system	84068	SLC10A7	OMIM:618363
HP:0025031	Abnormality of the digestive system	5831	PYCR1	OMIM:612940
HP:0025031	Abnormality of the digestive system	5831	PYCR1	OMIM:614438
HP:0025031	Abnormality of the digestive system	11080	DNAJB4	OMIM:620326
HP:0025031	Abnormality of the digestive system	7317	UBA1	OMIM:301830
HP:0025031	Abnormality of the digestive system	9791	PTDSS1	OMIM:151050
HP:0025031	Abnormality of the digestive system	9791	PTDSS1	ORPHA:2658
HP:0025031	Abnormality of the digestive system	1278	COL1A2	OMIM:225320
HP:0025031	Abnormality of the digestive system	1278	COL1A2	ORPHA:230851
HP:0025031	Abnormality of the digestive system	1278	COL1A2	ORPHA:1899
HP:0025031	Abnormality of the digestive system	6935	ZEB1	OMIM:609141
HP:0025031	Abnormality of the digestive system	8720	MBTPS1	OMIM:618392
HP:0025031	Abnormality of the digestive system	10220	GDF11	OMIM:619122
HP:0025031	Abnormality of the digestive system	8450	CUL4B	ORPHA:85293
HP:0025031	Abnormality of the digestive system	5518	PPP2R1A	ORPHA:457284
HP:0025031	Abnormality of the digestive system	3229	HOXC13	OMIM:614931
HP:0025031	Abnormality of the digestive system	7042	TGFB2	OMIM:614816
HP:0025031	Abnormality of the digestive system	7042	TGFB2	ORPHA:91387
HP:0025031	Abnormality of the digestive system	871	SERPINH1	OMIM:613848
HP:0025031	Abnormality of the digestive system	168667	BMPER	OMIM:608022
HP:0025031	Abnormality of the digestive system	4702	NDUFA8	OMIM:619272
HP:0025031	Abnormality of the digestive system	123263	MTFMT	OMIM:614947
HP:0025031	Abnormality of the digestive system	4774	NFIA	OMIM:613735
HP:0025031	Abnormality of the digestive system	5352	PLOD2	OMIM:609220
HP:0025031	Abnormality of the digestive system	10093	ARPC4	OMIM:620141
HP:0025031	Abnormality of the digestive system	8443	GNPAT	OMIM:222765
HP:0025031	Abnormality of the digestive system	25782	RAB3GAP2	OMIM:212720
HP:0025031	Abnormality of the digestive system	6197	RPS6KA3	OMIM:303600
HP:0025031	Abnormality of the digestive system	6197	RPS6KA3	ORPHA:192
HP:0025031	Abnormality of the digestive system	197257	LDHD	OMIM:245450
HP:0025031	Abnormality of the digestive system	10907	TXNL4A	OMIM:608572
HP:0025031	Abnormality of the digestive system	4094	MAF	ORPHA:1272
HP:0025031	Abnormality of the digestive system	4953	ODC1	ORPHA:544488
HP:0025031	Abnormality of the digestive system	998	CDC42	OMIM:616737
HP:0025031	Abnormality of the digestive system	998	CDC42	ORPHA:487796
HP:0025031	Abnormality of the digestive system	10265	IRX5	OMIM:611174
HP:0025031	Abnormality of the digestive system	8884	SLC5A6	OMIM:619903
HP:0025031	Abnormality of the digestive system	2626	GATA4	OMIM:615542
HP:0025031	Abnormality of the digestive system	6785	ELOVL4	OMIM:614457
HP:0025031	Abnormality of the digestive system	7043	TGFB3	OMIM:615582
HP:0025031	Abnormality of the digestive system	7043	TGFB3	ORPHA:91387
HP:0025031	Abnormality of the digestive system	4015	LOX	ORPHA:91387
HP:0025031	Abnormality of the digestive system	59	ACTA2	ORPHA:91387
HP:0025031	Abnormality of the digestive system	5592	PRKG1	ORPHA:91387
HP:0025031	Abnormality of the digestive system	2301	FOXE3	ORPHA:91387
HP:0025031	Abnormality of the digestive system	4144	MAT2A	ORPHA:91387
HP:0025031	Abnormality of the digestive system	23493	HEY2	ORPHA:91387
HP:0025031	Abnormality of the digestive system	8076	MFAP5	ORPHA:91387
HP:0025031	Abnormality of the digestive system	79875	THSD4	ORPHA:91387
HP:0025031	Abnormality of the digestive system	3655	ITGA6	ORPHA:79403
HP:0025031	Abnormality of the digestive system	3691	ITGB4	ORPHA:79403
HP:0025031	Abnormality of the digestive system	3691	ITGB4	ORPHA:158684
HP:0025031	Abnormality of the digestive system	80781	COL18A1	OMIM:267750
HP:0025031	Abnormality of the digestive system	9839	ZEB2	ORPHA:261537
HP:0025031	Abnormality of the digestive system	9839	ZEB2	ORPHA:261552
HP:0025031	Abnormality of the digestive system	4920	ROR2	OMIM:268310
HP:0025031	Abnormality of the digestive system	284058	KANSL1	ORPHA:363965
HP:0025031	Abnormality of the digestive system	284058	KANSL1	ORPHA:363958
HP:0025031	Abnormality of the digestive system	145173	B3GLCT	ORPHA:709
HP:0025031	Abnormality of the digestive system	2303	FOXC2	ORPHA:33001
HP:0025031	Abnormality of the digestive system	6231	RPS26	OMIM:613309
HP:0025031	Abnormality of the digestive system	7474	WNT5A	OMIM:180700
HP:0025031	Abnormality of the digestive system	10653	SPINT2	OMIM:270420
HP:0025031	Abnormality of the digestive system	28234	SLCO1B3	OMIM:237450
HP:0025031	Abnormality of the digestive system	28234	SLCO1B3	ORPHA:3111
HP:0025031	Abnormality of the digestive system	10599	SLCO1B1	OMIM:237450
HP:0025031	Abnormality of the digestive system	10599	SLCO1B1	ORPHA:3111
HP:0025031	Abnormality of the digestive system	5213	PFKM	OMIM:232800
HP:0025031	Abnormality of the digestive system	763	CA5A	OMIM:615751
HP:0025031	Abnormality of the digestive system	11093	ADAMTS13	OMIM:274150
HP:0025031	Abnormality of the digestive system	286410	ATP11C	OMIM:301015
HP:0025031	Abnormality of the digestive system	79140	CCDC28B	OMIM:209900
HP:0025031	Abnormality of the digestive system	53834	FGFRL1	OMIM:194190
HP:0025031	Abnormality of the digestive system	8242	KDM5C	OMIM:300534
HP:0025031	Abnormality of the digestive system	9851	KIAA0753	ORPHA:474
HP:0025031	Abnormality of the digestive system	55112	DYNC2I1	ORPHA:474
HP:0025031	Abnormality of the digestive system	153241	CEP120	ORPHA:474
HP:0025031	Abnormality of the digestive system	57560	IFT80	ORPHA:474
HP:0025031	Abnormality of the digestive system	51626	DYNC2LI1	ORPHA:474
HP:0025031	Abnormality of the digestive system	79659	DYNC2H1	ORPHA:474
HP:0025031	Abnormality of the digestive system	9742	IFT140	ORPHA:474
HP:0025031	Abnormality of the digestive system	57728	WDR19	ORPHA:474
HP:0025031	Abnormality of the digestive system	89891	DYNC2I2	ORPHA:474
HP:0025031	Abnormality of the digestive system	79809	TTC21B	ORPHA:474
HP:0025031	Abnormality of the digestive system	291	SLC25A4	ORPHA:254892
HP:0025031	Abnormality of the digestive system	56652	TWNK	ORPHA:254892
HP:0025031	Abnormality of the digestive system	11232	POLG2	ORPHA:254892
HP:0025031	Abnormality of the digestive system	11232	POLG2	OMIM:610131
HP:0025031	Abnormality of the digestive system	1244	ABCC2	ORPHA:234
HP:0025031	Abnormality of the digestive system	55532	SLC30A10	ORPHA:309854
HP:0025031	Abnormality of the digestive system	23600	AMACR	OMIM:614307
HP:0025031	Abnormality of the digestive system	4609	MYC	ORPHA:543
HP:0025031	Abnormality of the digestive system	6804	STX1A	ORPHA:586
HP:0025031	Abnormality of the digestive system	2947	GSTM3	ORPHA:586
HP:0025031	Abnormality of the digestive system	7040	TGFB1	ORPHA:586
HP:0025031	Abnormality of the digestive system	2729	GCLC	ORPHA:586
HP:0025031	Abnormality of the digestive system	1084	CEACAM3	ORPHA:586
HP:0025031	Abnormality of the digestive system	6556	SLC11A1	ORPHA:586
HP:0025031	Abnormality of the digestive system	51164	DCTN4	ORPHA:586
HP:0025031	Abnormality of the digestive system	3783	KCNN4	ORPHA:586
HP:0025031	Abnormality of the digestive system	4282	MIF	ORPHA:586
HP:0025031	Abnormality of the digestive system	1909	EDNRA	ORPHA:586
HP:0025031	Abnormality of the digestive system	6550	SLC9A3	ORPHA:586
HP:0025031	Abnormality of the digestive system	3162	HMOX1	ORPHA:586
HP:0025031	Abnormality of the digestive system	115019	SLC26A9	ORPHA:586
HP:0025031	Abnormality of the digestive system	11254	SLC6A14	ORPHA:586
HP:0025031	Abnormality of the digestive system	5265	SERPINA1	ORPHA:586
HP:0025031	Abnormality of the digestive system	1080	CFTR	ORPHA:586
HP:0025031	Abnormality of the digestive system	22802	CLCA4	ORPHA:586
HP:0025031	Abnormality of the digestive system	4680	CEACAM6	ORPHA:586
HP:0025031	Abnormality of the digestive system	3028	HSD17B10	ORPHA:391457
HP:0025031	Abnormality of the digestive system	3043	HBB	ORPHA:231222
HP:0025031	Abnormality of the digestive system	4552	MTRR	ORPHA:2169
HP:0025031	Abnormality of the digestive system	590	BCHE	ORPHA:132
HP:0025031	Abnormality of the digestive system	55670	PEX26	ORPHA:44
HP:0025031	Abnormality of the digestive system	5824	PEX19	ORPHA:44
HP:0025031	Abnormality of the digestive system	5828	PEX2	ORPHA:44
HP:0025031	Abnormality of the digestive system	8504	PEX3	ORPHA:44
HP:0025031	Abnormality of the digestive system	9409	PEX16	ORPHA:44
HP:0025031	Abnormality of the digestive system	5190	PEX6	ORPHA:44
HP:0025031	Abnormality of the digestive system	8799	PEX11B	ORPHA:44
HP:0025031	Abnormality of the digestive system	5830	PEX5	ORPHA:44
HP:0025031	Abnormality of the digestive system	5189	PEX1	ORPHA:44
HP:0025031	Abnormality of the digestive system	5193	PEX12	ORPHA:44
HP:0025031	Abnormality of the digestive system	5194	PEX13	ORPHA:44
HP:0025031	Abnormality of the digestive system	5195	PEX14	ORPHA:44
HP:0025031	Abnormality of the digestive system	5192	PEX10	ORPHA:44
HP:0025031	Abnormality of the digestive system	7018	TF	OMIM:209300
HP:0025031	Abnormality of the digestive system	6389	SDHA	ORPHA:44890
HP:0025031	Abnormality of the digestive system	6390	SDHB	ORPHA:44890
HP:0025031	Abnormality of the digestive system	6391	SDHC	ORPHA:44890
HP:0025031	Abnormality of the digestive system	5156	PDGFRA	ORPHA:44890
HP:0025031	Abnormality of the digestive system	3815	KIT	ORPHA:44890
HP:0025031	Abnormality of the digestive system	5155	PDGFB	ORPHA:1980
HP:0025031	Abnormality of the digestive system	9213	XPR1	ORPHA:1980
HP:0025031	Abnormality of the digestive system	5159	PDGFRB	ORPHA:1980
HP:0025031	Abnormality of the digestive system	57462	MYORG	ORPHA:1980
HP:0025031	Abnormality of the digestive system	6575	SLC20A2	ORPHA:1980
HP:0025031	Abnormality of the digestive system	58494	JAM2	ORPHA:1980
HP:0025031	Abnormality of the digestive system	64116	SLC39A8	ORPHA:468699
HP:0025031	Abnormality of the digestive system	29929	ALG6	ORPHA:79320
HP:0025031	Abnormality of the digestive system	672	BRCA1	ORPHA:84
HP:0025031	Abnormality of the digestive system	10459	MAD2L2	ORPHA:84
HP:0025031	Abnormality of the digestive system	7516	XRCC2	ORPHA:84
HP:0025031	Abnormality of the digestive system	29089	UBE2T	ORPHA:84
HP:0025031	Abnormality of the digestive system	55120	FANCL	ORPHA:84
HP:0025031	Abnormality of the digestive system	2177	FANCD2	ORPHA:84
HP:0025031	Abnormality of the digestive system	2175	FANCA	ORPHA:84
HP:0025031	Abnormality of the digestive system	2187	FANCB	ORPHA:84
HP:0025031	Abnormality of the digestive system	2176	FANCC	ORPHA:84
HP:0025031	Abnormality of the digestive system	2178	FANCE	ORPHA:84
HP:0025031	Abnormality of the digestive system	2188	FANCF	ORPHA:84
HP:0025031	Abnormality of the digestive system	2189	FANCG	ORPHA:84
HP:0025031	Abnormality of the digestive system	5888	RAD51	ORPHA:84
HP:0025031	Abnormality of the digestive system	5889	RAD51C	ORPHA:84
HP:0025031	Abnormality of the digestive system	55159	RFWD3	ORPHA:84
HP:0025031	Abnormality of the digestive system	83990	BRIP1	ORPHA:84
HP:0025031	Abnormality of the digestive system	57697	FANCM	ORPHA:84
HP:0025031	Abnormality of the digestive system	79728	PALB2	ORPHA:84
HP:0025031	Abnormality of the digestive system	84464	SLX4	ORPHA:84
HP:0025031	Abnormality of the digestive system	55215	FANCI	ORPHA:84
HP:0025031	Abnormality of the digestive system	64127	NOD2	ORPHA:90340
HP:0025031	Abnormality of the digestive system	191	AHCY	ORPHA:88618
HP:0025031	Abnormality of the digestive system	4556	MT-TE	ORPHA:254864
HP:0025031	Abnormality of the digestive system	55687	TRMU	ORPHA:254864
HP:0025031	Abnormality of the digestive system	9652	SKIC3	ORPHA:84064
HP:0025031	Abnormality of the digestive system	6499	SKIC2	ORPHA:84064
HP:0025031	Abnormality of the digestive system	23495	TNFRSF13B	ORPHA:1572
HP:0025031	Abnormality of the digestive system	4790	NFKB1	ORPHA:1572
HP:0025031	Abnormality of the digestive system	4791	NFKB2	ORPHA:1572
HP:0025031	Abnormality of the digestive system	115650	TNFRSF13C	ORPHA:1572
HP:0025031	Abnormality of the digestive system	1380	CR2	ORPHA:1572
HP:0025031	Abnormality of the digestive system	8742	TNFSF12	ORPHA:1572
HP:0025031	Abnormality of the digestive system	930	CD19	ORPHA:1572
HP:0025031	Abnormality of the digestive system	29851	ICOS	ORPHA:1572
HP:0025031	Abnormality of the digestive system	931	MS4A1	ORPHA:1572
HP:0025031	Abnormality of the digestive system	975	CD81	ORPHA:1572
HP:0025031	Abnormality of the digestive system	359948	IRF2BP2	ORPHA:1572
HP:0025031	Abnormality of the digestive system	5498	PPOX	ORPHA:79473
HP:0025031	Abnormality of the digestive system	54658	UGT1A1	ORPHA:79234
HP:0025031	Abnormality of the digestive system	84320	ACBD6	OMIM:620785
HP:0025031	Abnormality of the digestive system	727897	MUC5B	OMIM:178500
HP:0025031	Abnormality of the digestive system	6440	SFTPC	OMIM:178500
HP:0025031	Abnormality of the digestive system	729238	SFTPA2	OMIM:178500
HP:0025031	Abnormality of the digestive system	7036	TFR2	OMIM:604250
HP:0025031	Abnormality of the digestive system	112752	IFT43	OMIM:614099
HP:0025031	Abnormality of the digestive system	4750	NEK1	OMIM:263520
HP:0025031	Abnormality of the digestive system	5346	PLIN1	ORPHA:280356
HP:0025031	Abnormality of the digestive system	132	ADK	OMIM:614300
HP:0025031	Abnormality of the digestive system	5443	POMC	ORPHA:71526
HP:0025031	Abnormality of the digestive system	5443	POMC	OMIM:609734
HP:0025031	Abnormality of the digestive system	3032	HADHB	ORPHA:746
HP:0025031	Abnormality of the digestive system	10134	BCAP31	ORPHA:369942
HP:0025031	Abnormality of the digestive system	9095	TBX19	OMIM:201400
HP:0025031	Abnormality of the digestive system	26146	TRAF3IP1	OMIM:616629
HP:0025031	Abnormality of the digestive system	1581	CYP7A1	ORPHA:209902
HP:0025031	Abnormality of the digestive system	203286	ANKS6	OMIM:615382
HP:0025031	Abnormality of the digestive system	51134	CEP83	OMIM:615862
HP:0025031	Abnormality of the digestive system	80222	TARS2	OMIM:615918
HP:0025031	Abnormality of the digestive system	3949	LDLR	ORPHA:391665
HP:0025031	Abnormality of the digestive system	255738	PCSK9	ORPHA:391665
HP:0025031	Abnormality of the digestive system	26119	LDLRAP1	ORPHA:391665
HP:0025031	Abnormality of the digestive system	1588	CYP19A1	ORPHA:91
HP:0025031	Abnormality of the digestive system	79798	ARMC5	ORPHA:189427
HP:0025031	Abnormality of the digestive system	8241	RBM10	OMIM:311900
HP:0025031	Abnormality of the digestive system	378884	NHLRC1	ORPHA:501
HP:0025031	Abnormality of the digestive system	7957	EPM2A	ORPHA:501
HP:0025031	Abnormality of the digestive system	7957	EPM2A	OMIM:254780
HP:0025031	Abnormality of the digestive system	5106	PCK2	OMIM:261650
HP:0025031	Abnormality of the digestive system	28976	ACAD9	OMIM:611126
HP:0025031	Abnormality of the digestive system	29960	MRM2	OMIM:618567
HP:0025031	Abnormality of the digestive system	83932	SPRTN	OMIM:616200
HP:0025031	Abnormality of the digestive system	182	JAG1	OMIM:118450
HP:0025031	Abnormality of the digestive system	8312	AXIN1	OMIM:114550
HP:0025031	Abnormality of the digestive system	3482	IGF2R	OMIM:114550
HP:0025031	Abnormality of the digestive system	200931	SLC51A	OMIM:619484
HP:0025031	Abnormality of the digestive system	92345	NAF1	OMIM:620365
HP:0025031	Abnormality of the digestive system	22796	COG2	ORPHA:435934
HP:0025031	Abnormality of the digestive system	7385	UQCRC2	OMIM:615160
HP:0025031	Abnormality of the digestive system	51601	LIPT1	OMIM:616299
HP:0025031	Abnormality of the digestive system	55278	QRSL1	OMIM:618835
HP:0025031	Abnormality of the digestive system	644	BLVRA	OMIM:614156
HP:0025031	Abnormality of the digestive system	51649	MRPS23	OMIM:618952
HP:0025031	Abnormality of the digestive system	283459	GATC	OMIM:618839
HP:0025031	Abnormality of the digestive system	617	BCS1L	OMIM:124000
HP:0025031	Abnormality of the digestive system	2954	GSTZ1	OMIM:617596
HP:0025031	Abnormality of the digestive system	23193	GANAB	OMIM:600666
HP:0025031	Abnormality of the digestive system	8772	FADD	ORPHA:306550
HP:0025031	Abnormality of the digestive system	2235	FECH	ORPHA:79278
HP:0025031	Abnormality of the digestive system	65080	MRPL44	OMIM:615395
HP:0025031	Abnormality of the digestive system	131118	DNAJC19	OMIM:610198
HP:0025031	Abnormality of the digestive system	131118	DNAJC19	ORPHA:66634
HP:0025031	Abnormality of the digestive system	54543	TOMM7	OMIM:620601
HP:0025031	Abnormality of the digestive system	3071	NCKAP1L	OMIM:618982
HP:0025031	Abnormality of the digestive system	5880	RAC2	OMIM:618986
HP:0025031	Abnormality of the digestive system	79722	ANKRD55	ORPHA:85408
HP:0025031	Abnormality of the digestive system	3559	IL2RA	ORPHA:85408
HP:0025031	Abnormality of the digestive system	3559	IL2RA	OMIM:606367
HP:0025031	Abnormality of the digestive system	5771	PTPN2	ORPHA:85408
HP:0025031	Abnormality of the digestive system	3716	JAK1	OMIM:618999
HP:0025031	Abnormality of the digestive system	2122	MECOM	OMIM:616738
HP:0025031	Abnormality of the digestive system	9382	COG1	ORPHA:263508
HP:0025031	Abnormality of the digestive system	5251	PHEX	OMIM:307800
HP:0025031	Abnormality of the digestive system	1777	DNASE2	OMIM:619858
HP:0025031	Abnormality of the digestive system	26154	ABCA12	OMIM:601277
HP:0025031	Abnormality of the digestive system	7289	TULP3	OMIM:619902
HP:0025031	Abnormality of the digestive system	970	CD70	OMIM:618261
HP:0025031	Abnormality of the digestive system	3572	IL6ST	OMIM:619750
HP:0025031	Abnormality of the digestive system	5788	PTPRC	OMIM:619924
HP:0025031	Abnormality of the digestive system	9371	KIF3B	OMIM:618955
HP:0025031	Abnormality of the digestive system	2193	FARSA	OMIM:619013
HP:0025031	Abnormality of the digestive system	9939	RBM8A	OMIM:274000
HP:0025031	Abnormality of the digestive system	84153	RNASEH2C	OMIM:610329
HP:0025031	Abnormality of the digestive system	84153	RNASEH2C	ORPHA:51
HP:0025031	Abnormality of the digestive system	1513	CTSK	ORPHA:763
HP:0025031	Abnormality of the digestive system	25939	SAMHD1	ORPHA:51
HP:0025031	Abnormality of the digestive system	79621	RNASEH2B	ORPHA:51
HP:0025031	Abnormality of the digestive system	134353	LSM11	ORPHA:51
HP:0025031	Abnormality of the digestive system	6006	RHCE	ORPHA:71275
HP:0025031	Abnormality of the digestive system	91147	TMEM67	OMIM:216360
HP:0025031	Abnormality of the digestive system	6711	SPTBN1	OMIM:619475
HP:0025031	Abnormality of the digestive system	157570	ESCO2	OMIM:216100
HP:0025031	Abnormality of the digestive system	57192	MCOLN1	OMIM:252650
HP:0025031	Abnormality of the digestive system	23394	ADNP	ORPHA:404448
HP:0025031	Abnormality of the digestive system	341640	FREM2	ORPHA:2052
HP:0025031	Abnormality of the digestive system	1788	DNMT3A	ORPHA:404443
HP:0025031	Abnormality of the digestive system	1788	DNMT3A	OMIM:615879
HP:0025031	Abnormality of the digestive system	64324	NSD1	ORPHA:821
HP:0025031	Abnormality of the digestive system	10297	APC2	ORPHA:821
HP:0025031	Abnormality of the digestive system	4487	MSX1	ORPHA:199302
HP:0025031	Abnormality of the digestive system	5818	NECTIN1	ORPHA:199302
HP:0025031	Abnormality of the digestive system	3664	IRF6	ORPHA:199302
HP:0025031	Abnormality of the digestive system	7849	PAX8	OMIM:218700
HP:0025031	Abnormality of the digestive system	7849	PAX8	ORPHA:95713
HP:0025031	Abnormality of the digestive system	7849	PAX8	ORPHA:95712
HP:0025031	Abnormality of the digestive system	4281	MID1	OMIM:300000
HP:0025031	Abnormality of the digestive system	4281	MID1	ORPHA:2745
HP:0025031	Abnormality of the digestive system	374654	KIF7	OMIM:200990
HP:0025031	Abnormality of the digestive system	2737	GLI3	ORPHA:380
HP:0025031	Abnormality of the digestive system	2737	GLI3	ORPHA:672
HP:0025031	Abnormality of the digestive system	2737	GLI3	OMIM:175700
HP:0025031	Abnormality of the digestive system	64412	GZF1	OMIM:617662
HP:0025031	Abnormality of the digestive system	283489	CHAMP1	OMIM:616579
HP:0025031	Abnormality of the digestive system	23384	SPECC1L	ORPHA:1519
HP:0025031	Abnormality of the digestive system	3764	KCNJ8	ORPHA:1517
HP:0025031	Abnormality of the digestive system	10060	ABCC9	ORPHA:1517
HP:0025031	Abnormality of the digestive system	10060	ABCC9	OMIM:239850
HP:0025031	Abnormality of the digestive system	9723	SEMA3E	ORPHA:138
HP:0025031	Abnormality of the digestive system	1353	COX11	OMIM:620275
HP:0025031	Abnormality of the digestive system	7253	TSHR	ORPHA:90673
HP:0025031	Abnormality of the digestive system	7253	TSHR	ORPHA:95713
HP:0025031	Abnormality of the digestive system	7252	TSHB	ORPHA:90674
HP:0025031	Abnormality of the digestive system	7252	TSHB	OMIM:275100
HP:0025031	Abnormality of the digestive system	29957	SLC25A24	ORPHA:2963
HP:0025031	Abnormality of the digestive system	29957	SLC25A24	ORPHA:2095
HP:0025031	Abnormality of the digestive system	29957	SLC25A24	OMIM:612289
HP:0025031	Abnormality of the digestive system	57492	ARID1B	OMIM:135900
HP:0025031	Abnormality of the digestive system	54453	RIN2	OMIM:613075
HP:0025031	Abnormality of the digestive system	54453	RIN2	ORPHA:217335
HP:0025031	Abnormality of the digestive system	50814	NSDHL	OMIM:308050
HP:0025031	Abnormality of the digestive system	23545	ATP6V0A2	ORPHA:2834
HP:0025031	Abnormality of the digestive system	23545	ATP6V0A2	OMIM:278250
HP:0025031	Abnormality of the digestive system	64359	NXN	ORPHA:1507
HP:0025031	Abnormality of the digestive system	6598	SMARCB1	OMIM:614608
HP:0025031	Abnormality of the digestive system	2697	GJA1	ORPHA:2710
HP:0025031	Abnormality of the digestive system	1277	COL1A1	ORPHA:287
HP:0025031	Abnormality of the digestive system	1289	COL5A1	ORPHA:287
HP:0025031	Abnormality of the digestive system	1289	COL5A1	OMIM:130000
HP:0025031	Abnormality of the digestive system	1290	COL5A2	ORPHA:287
HP:0025031	Abnormality of the digestive system	8726	EED	OMIM:617561
HP:0025031	Abnormality of the digestive system	22872	SEC31A	OMIM:618651
HP:0025031	Abnormality of the digestive system	11107	PRDM5	OMIM:614170
HP:0025031	Abnormality of the digestive system	26053	AUTS2	ORPHA:352490
HP:0025031	Abnormality of the digestive system	26053	AUTS2	OMIM:615834
HP:0025031	Abnormality of the digestive system	79813	EHMT1	OMIM:610253
HP:0025031	Abnormality of the digestive system	79813	EHMT1	ORPHA:261652
HP:0025031	Abnormality of the digestive system	1954	MEGF8	OMIM:614976
HP:0025031	Abnormality of the digestive system	1954	MEGF8	ORPHA:65759
HP:0025031	Abnormality of the digestive system	649	BMP1	OMIM:614856
HP:0025031	Abnormality of the digestive system	4036	LRP2	ORPHA:2143
HP:0025031	Abnormality of the digestive system	4036	LRP2	OMIM:222448
HP:0025031	Abnormality of the digestive system	26834	RNU4-2	OMIM:620851
HP:0025031	Abnormality of the digestive system	165	AEBP1	ORPHA:536532
HP:0025031	Abnormality of the digestive system	165	AEBP1	OMIM:618000
HP:0025031	Abnormality of the digestive system	1947	EFNB1	OMIM:304110
HP:0025031	Abnormality of the digestive system	1836	SLC26A2	OMIM:600972
HP:0025031	Abnormality of the digestive system	1836	SLC26A2	ORPHA:93298
HP:0025031	Abnormality of the digestive system	23512	SUZ12	OMIM:618786
HP:0025031	Abnormality of the digestive system	5626	PROP1	ORPHA:226307
HP:0025031	Abnormality of the digestive system	89884	LHX4	ORPHA:226307
HP:0025031	Abnormality of the digestive system	8022	LHX3	ORPHA:226307
HP:0025031	Abnormality of the digestive system	5449	POU1F1	ORPHA:226307
HP:0025031	Abnormality of the digestive system	8820	HESX1	ORPHA:226307
HP:0025031	Abnormality of the digestive system	1857	DVL3	ORPHA:3107
HP:0025031	Abnormality of the digestive system	2535	FZD2	ORPHA:3107
HP:0025031	Abnormality of the digestive system	9681	DEPDC5	OMIM:620504
HP:0025031	Abnormality of the digestive system	2627	GATA6	ORPHA:2255
HP:0025031	Abnormality of the digestive system	2627	GATA6	OMIM:600001
HP:0025031	Abnormality of the digestive system	79753	SNIP1	OMIM:614501
HP:0025031	Abnormality of the digestive system	5593	PRKG2	OMIM:619636
HP:0025031	Abnormality of the digestive system	8364	H4C3	OMIM:619758
HP:0025031	Abnormality of the digestive system	8517	IKBKG	ORPHA:464
HP:0025031	Abnormality of the digestive system	715	C1R	OMIM:130080
HP:0025031	Abnormality of the digestive system	58508	KMT2C	ORPHA:261652
HP:0025031	Abnormality of the digestive system	50506	DUOX2	ORPHA:226316
HP:0025031	Abnormality of the digestive system	50506	DUOX2	ORPHA:95716
HP:0025031	Abnormality of the digestive system	54487	DGCR8	OMIM:192430
HP:0025031	Abnormality of the digestive system	8214	DGCR6	OMIM:192430
HP:0025031	Abnormality of the digestive system	8220	ESS2	OMIM:192430
HP:0025031	Abnormality of the digestive system	9993	DGCR2	OMIM:192430
HP:0025031	Abnormality of the digestive system	51341	ZBTB7A	OMIM:619769
HP:0025031	Abnormality of the digestive system	5832	ALDH18A1	OMIM:219150
HP:0025031	Abnormality of the digestive system	51085	MLXIPL	OMIM:194050
HP:0025031	Abnormality of the digestive system	81031	SLC2A10	OMIM:208050
HP:0025031	Abnormality of the digestive system	284098	PIGW	OMIM:616025
HP:0025031	Abnormality of the digestive system	259232	NALCN	OMIM:616266
HP:0025031	Abnormality of the digestive system	23483	TGDS	OMIM:616145
HP:0025031	Abnormality of the digestive system	57479	PRR12	OMIM:619539
HP:0025031	Abnormality of the digestive system	64919	BCL11B	OMIM:617237
HP:0025031	Abnormality of the digestive system	2146	EZH2	OMIM:277590
HP:0025031	Abnormality of the digestive system	1107	CHD3	OMIM:618205
HP:0025031	Abnormality of the digestive system	9321	TRIP11	ORPHA:93299
HP:0025031	Abnormality of the digestive system	833	CARS1	ORPHA:33364
HP:0025031	Abnormality of the digestive system	7737	RNF113A	ORPHA:33364
HP:0025031	Abnormality of the digestive system	136647	MPLKIP	ORPHA:33364
HP:0025031	Abnormality of the digestive system	6897	TARS1	ORPHA:33364
HP:0025031	Abnormality of the digestive system	16	AARS1	ORPHA:33364
HP:0025031	Abnormality of the digestive system	2071	ERCC3	ORPHA:33364
HP:0025031	Abnormality of the digestive system	2961	GTF2E2	ORPHA:33364
HP:0025031	Abnormality of the digestive system	6528	SLC5A5	OMIM:274400
HP:0025031	Abnormality of the digestive system	6528	SLC5A5	ORPHA:95716
HP:0025031	Abnormality of the digestive system	117581	TWIST2	ORPHA:920
HP:0025031	Abnormality of the digestive system	6595	SMARCA2	OMIM:601358
HP:0025031	Abnormality of the digestive system	1387	CREBBP	OMIM:618332
HP:0025031	Abnormality of the digestive system	1387	CREBBP	ORPHA:592574
HP:0025031	Abnormality of the digestive system	8295	TRRAP	OMIM:618454
HP:0025031	Abnormality of the digestive system	55690	PACS1	ORPHA:329224
HP:0025031	Abnormality of the digestive system	51053	GMNN	OMIM:616835
HP:0025031	Abnormality of the digestive system	2245	FGD1	ORPHA:915
HP:0025031	Abnormality of the digestive system	2245	FGD1	OMIM:305400
HP:0025031	Abnormality of the digestive system	5908	RAP1B	OMIM:620654
HP:0025031	Abnormality of the digestive system	90417	KNSTRN	OMIM:613328
HP:0025031	Abnormality of the digestive system	90417	KNSTRN	ORPHA:221139
HP:0025031	Abnormality of the digestive system	3736	KCNA1	ORPHA:1934
HP:0025031	Abnormality of the digestive system	9091	PIGQ	ORPHA:1934
HP:0025031	Abnormality of the digestive system	140679	SLC32A1	ORPHA:1934
HP:0025031	Abnormality of the digestive system	2775	GNAO1	ORPHA:1934
HP:0025031	Abnormality of the digestive system	81603	TRIM8	ORPHA:1934
HP:0025031	Abnormality of the digestive system	2902	GRIN1	ORPHA:1934
HP:0025031	Abnormality of the digestive system	79751	SLC25A22	ORPHA:1934
HP:0025031	Abnormality of the digestive system	150094	SIK1	ORPHA:1934
HP:0025031	Abnormality of the digestive system	23312	DMXL2	ORPHA:1934
HP:0025031	Abnormality of the digestive system	2917	GRM7	ORPHA:1934
HP:0025031	Abnormality of the digestive system	11284	PNKP	ORPHA:1934
HP:0025031	Abnormality of the digestive system	6326	SCN2A	ORPHA:1934
HP:0025031	Abnormality of the digestive system	51227	PIGP	ORPHA:1934
HP:0025031	Abnormality of the digestive system	6324	SCN1B	ORPHA:1934
HP:0025031	Abnormality of the digestive system	4761	NEUROD2	ORPHA:1934
HP:0025031	Abnormality of the digestive system	9361	LONP1	OMIM:600373
HP:0025031	Abnormality of the digestive system	9759	HDAC4	ORPHA:1001
HP:0025031	Abnormality of the digestive system	4076	CAPRIN1	OMIM:620782
HP:0025031	Abnormality of the digestive system	6299	SALL1	OMIM:107480
HP:0025031	Abnormality of the digestive system	10847	SRCAP	OMIM:136140
HP:0025031	Abnormality of the digestive system	5515	PPP2CA	OMIM:618354
HP:0025031	Abnormality of the digestive system	23291	FBXW11	OMIM:618914
HP:0025031	Abnormality of the digestive system	3097	HIVEP2	OMIM:616977
HP:0025031	Abnormality of the digestive system	346171	ZFP57	ORPHA:99886
HP:0025031	Abnormality of the digestive system	79068	FTO	OMIM:612938
HP:0025031	Abnormality of the digestive system	4784	NFIX	OMIM:602535
HP:0025031	Abnormality of the digestive system	8260	NAA10	OMIM:300855
HP:0025031	Abnormality of the digestive system	10082	GPC6	OMIM:258315
HP:0025031	Abnormality of the digestive system	405753	DUOXA2	ORPHA:95716
HP:0025031	Abnormality of the digestive system	7038	TG	ORPHA:95716
HP:0025031	Abnormality of the digestive system	7173	TPO	ORPHA:95716
HP:0025031	Abnormality of the digestive system	389434	IYD	ORPHA:95716
HP:0025031	Abnormality of the digestive system	55603	TENT5A	OMIM:617952
HP:0025031	Abnormality of the digestive system	7080	NKX2-1	ORPHA:95713
HP:0025031	Abnormality of the digestive system	1482	NKX2-5	ORPHA:95713
HP:0025031	Abnormality of the digestive system	1482	NKX2-5	ORPHA:95712
HP:0025031	Abnormality of the digestive system	2304	FOXE1	ORPHA:95713
HP:0025031	Abnormality of the digestive system	5172	SLC26A4	ORPHA:95713
HP:0025031	Abnormality of the digestive system	134701	RIPPLY2	ORPHA:2311
HP:0025031	Abnormality of the digestive system	10683	DLL3	ORPHA:2311
HP:0025031	Abnormality of the digestive system	3955	LFNG	ORPHA:2311
HP:0025031	Abnormality of the digestive system	84667	HES7	ORPHA:2311
HP:0025031	Abnormality of the digestive system	145873	MESP2	ORPHA:2311
HP:0025031	Abnormality of the digestive system	2019	EN1	OMIM:619218
HP:0025031	Abnormality of the digestive system	23389	MED13L	ORPHA:369891
HP:0025031	Abnormality of the digestive system	5351	PLOD1	ORPHA:1900
HP:0025031	Abnormality of the digestive system	6045	RNF2	OMIM:619460
HP:0025031	Abnormality of the digestive system	1280	COL2A1	OMIM:156550
HP:0025031	Abnormality of the digestive system	2743	GLRB	ORPHA:3197
HP:0025031	Abnormality of the digestive system	2741	GLRA1	ORPHA:3197
HP:0025031	Abnormality of the digestive system	2741	GLRA1	OMIM:149400
HP:0025031	Abnormality of the digestive system	10243	GPHN	ORPHA:3197
HP:0025031	Abnormality of the digestive system	10243	GPHN	OMIM:149400
HP:0025031	Abnormality of the digestive system	84896	ATAD1	ORPHA:3197
HP:0025031	Abnormality of the digestive system	84896	ATAD1	OMIM:618011
HP:0025031	Abnormality of the digestive system	9152	SLC6A5	ORPHA:3197
HP:0025031	Abnormality of the digestive system	9509	ADAMTS2	OMIM:225410
HP:0025031	Abnormality of the digestive system	633	BGN	OMIM:300989
HP:0025031	Abnormality of the digestive system	2475	MTOR	OMIM:616638
HP:0025031	Abnormality of the digestive system	51715	RAB23	ORPHA:65759
HP:0025031	Abnormality of the digestive system	51715	RAB23	OMIM:201000
HP:0025031	Abnormality of the digestive system	26227	PHGDH	ORPHA:79351
HP:0025031	Abnormality of the digestive system	26040	SETBP1	ORPHA:798
HP:0025031	Abnormality of the digestive system	64864	RFX7	OMIM:620330
HP:0025031	Abnormality of the digestive system	64840	PORCN	OMIM:305600
HP:0025031	Abnormality of the digestive system	64840	PORCN	ORPHA:2092
HP:0025031	Abnormality of the digestive system	84265	POLR3GL	OMIM:619234
HP:0025031	Abnormality of the digestive system	716	C1S	OMIM:617174
HP:0025031	Abnormality of the digestive system	10526	IPO8	OMIM:619472
HP:0025031	Abnormality of the digestive system	1861	TOR1A	OMIM:618947
HP:0025031	Abnormality of the digestive system	285590	SH3PXD2B	ORPHA:137834
HP:0025031	Abnormality of the digestive system	23405	DICER1	OMIM:618272
HP:0025031	Abnormality of the digestive system	51360	MBTPS2	OMIM:308205
HP:0025031	Abnormality of the digestive system	1457	CSNK2A1	OMIM:617062
HP:0025031	Abnormality of the digestive system	54880	BCOR	OMIM:300166
HP:0025031	Abnormality of the digestive system	23169	SLC35D1	OMIM:269250
HP:0025031	Abnormality of the digestive system	60	ACTB	OMIM:620475
HP:0025031	Abnormality of the digestive system	149461	CLDN19	ORPHA:2196
HP:0025031	Abnormality of the digestive system	5879	RAC1	OMIM:617751
HP:0025031	Abnormality of the digestive system	5879	RAC1	ORPHA:500159
HP:0025031	Abnormality of the digestive system	84231	TRAF7	OMIM:618164
HP:0025031	Abnormality of the digestive system	51780	KDM3B	OMIM:618846
HP:0025031	Abnormality of the digestive system	10584	COLEC10	ORPHA:293843
HP:0025031	Abnormality of the digestive system	78989	COLEC11	ORPHA:293843
HP:0025031	Abnormality of the digestive system	63916	ELMO2	OMIM:606893
HP:0025031	Abnormality of the digestive system	5479	PPIB	OMIM:259440
HP:0025031	Abnormality of the digestive system	10516	FBLN5	OMIM:219100
HP:0025031	Abnormality of the digestive system	55553	SOX6	OMIM:618971
HP:0025031	Abnormality of the digestive system	203068	TUBB	ORPHA:2505
HP:0025031	Abnormality of the digestive system	10982	MAPRE2	ORPHA:2505
HP:0025031	Abnormality of the digestive system	579	NKX3-2	OMIM:613330
HP:0025031	Abnormality of the digestive system	22947	DUX4L1	ORPHA:269
HP:0025031	Abnormality of the digestive system	100288687	DUX4	ORPHA:269
HP:0025031	Abnormality of the digestive system	51098	IFT52	OMIM:617102
HP:0025031	Abnormality of the digestive system	7421	VDR	OMIM:277440
HP:0025031	Abnormality of the digestive system	28981	IFT81	OMIM:617895
HP:0025031	Abnormality of the digestive system	91754	NEK9	OMIM:617022
HP:0025031	Abnormality of the digestive system	1147	CHUK	OMIM:613630
HP:0025031	Abnormality of the digestive system	4313	MMP2	ORPHA:371428
HP:0025031	Abnormality of the digestive system	4323	MMP14	ORPHA:371428
HP:0025031	Abnormality of the digestive system	1301	COL11A1	OMIM:228520
HP:0025031	Abnormality of the digestive system	1301	COL11A1	ORPHA:2021
HP:0025031	Abnormality of the digestive system	1302	COL11A2	ORPHA:2021
HP:0025031	Abnormality of the digestive system	4524	MTHFR	ORPHA:563609
HP:0025031	Abnormality of the digestive system	57216	VANGL2	ORPHA:563609
HP:0025031	Abnormality of the digestive system	81788	NUAK2	ORPHA:563609
HP:0025031	Abnormality of the digestive system	4659	PPP1R12A	OMIM:618820
HP:0025031	Abnormality of the digestive system	2571	GAD1	OMIM:619124
HP:0025031	Abnormality of the digestive system	3090	HIC1	ORPHA:531
HP:0025031	Abnormality of the digestive system	727857	BHLHA9	ORPHA:3329
HP:0025031	Abnormality of the digestive system	219844	HYLS1	OMIM:236680
HP:0025031	Abnormality of the digestive system	2294	FOXF1	OMIM:265380
HP:0025031	Abnormality of the digestive system	55012	PPP2R3C	OMIM:618419
HP:0025031	Abnormality of the digestive system	93627	TBCK	ORPHA:488632
HP:0025031	Abnormality of the digestive system	23729	SHPK	ORPHA:440713
HP:0025031	Abnormality of the digestive system	10159	ATP6AP2	OMIM:301045
HP:0025031	Abnormality of the digestive system	83483	PLVAP	OMIM:618183
HP:0025031	Abnormality of the digestive system	171023	ASXL1	ORPHA:98850
HP:0025031	Abnormality of the digestive system	54790	TET2	ORPHA:98850
HP:0025031	Abnormality of the digestive system	867	CBL	ORPHA:98850
HP:0025031	Abnormality of the digestive system	861	RUNX1	ORPHA:98850
HP:0025031	Abnormality of the digestive system	6427	SRSF2	ORPHA:98850
HP:0025031	Abnormality of the digestive system	51422	PRKAG2	OMIM:261740
HP:0025031	Abnormality of the digestive system	10112	KIF20A	OMIM:619433
HP:0025031	Abnormality of the digestive system	9780	PIEZO1	OMIM:616843
HP:0025031	Abnormality of the digestive system	2632	GBE1	OMIM:232500
HP:0025031	Abnormality of the digestive system	8425	LTBP4	OMIM:613177
HP:0025031	Abnormality of the digestive system	25821	MTO1	OMIM:614702
HP:0025031	Abnormality of the digestive system	3932	LCK	OMIM:615758
HP:0025031	Abnormality of the digestive system	3875	KRT18	OMIM:215600
HP:0025031	Abnormality of the digestive system	79796	ALG9	OMIM:608776
HP:0025031	Abnormality of the digestive system	1776	DNASE1L3	ORPHA:36412
HP:0025031	Abnormality of the digestive system	4758	NEU1	OMIM:256550
HP:0025031	Abnormality of the digestive system	4758	NEU1	ORPHA:93400
HP:0025031	Abnormality of the digestive system	596	BCL2	ORPHA:545
HP:0025031	Abnormality of the digestive system	604	BCL6	ORPHA:545
HP:0025031	Abnormality of the digestive system	2629	GBA1	OMIM:608013
HP:0025031	Abnormality of the digestive system	2629	GBA1	ORPHA:77259
HP:0025031	Abnormality of the digestive system	5314	PKHD1	ORPHA:53035
HP:0025031	Abnormality of the digestive system	5314	PKHD1	ORPHA:731
HP:0025031	Abnormality of the digestive system	56945	MRPS22	OMIM:611719
HP:0025031	Abnormality of the digestive system	197131	UBR1	OMIM:243800
HP:0025031	Abnormality of the digestive system	23395	LARS2	OMIM:617021
HP:0025031	Abnormality of the digestive system	939	CD27	OMIM:615122
HP:0025031	Abnormality of the digestive system	2130	EWSR1	ORPHA:83469
HP:0025031	Abnormality of the digestive system	7490	WT1	ORPHA:83469
HP:0025031	Abnormality of the digestive system	2050	EPHB4	OMIM:617300
HP:0025031	Abnormality of the digestive system	23426	GRIP1	OMIM:617667
HP:0025031	Abnormality of the digestive system	54345	SOX18	ORPHA:69735
HP:0025031	Abnormality of the digestive system	10216	PRG4	ORPHA:2848
HP:0025031	Abnormality of the digestive system	7248	TSC1	ORPHA:538
HP:0025031	Abnormality of the digestive system	7249	TSC2	ORPHA:538
HP:0025031	Abnormality of the digestive system	3930	LBR	ORPHA:779
HP:0025031	Abnormality of the digestive system	2592	GALT	ORPHA:79239
HP:0025031	Abnormality of the digestive system	427	ASAH1	ORPHA:333
HP:0025031	Abnormality of the digestive system	51473	DCDC2	OMIM:617394
HP:0025031	Abnormality of the digestive system	51473	DCDC2	ORPHA:84081
HP:0025031	Abnormality of the digestive system	2859	GPR35	ORPHA:171
HP:0025031	Abnormality of the digestive system	10507	SEMA4D	ORPHA:171
HP:0025031	Abnormality of the digestive system	4485	MST1	ORPHA:171
HP:0025031	Abnormality of the digestive system	6925	TCF4	ORPHA:171
HP:0025031	Abnormality of the digestive system	50619	DEF6	OMIM:619573
HP:0025031	Abnormality of the digestive system	7019	TFAM	OMIM:617156
HP:0025031	Abnormality of the digestive system	11274	USP18	OMIM:617397
HP:0025031	Abnormality of the digestive system	4358	MPV17	OMIM:256810
HP:0025031	Abnormality of the digestive system	55109	AGGF1	ORPHA:90308
HP:0025031	Abnormality of the digestive system	5290	PIK3CA	ORPHA:90308
HP:0025031	Abnormality of the digestive system	2492	FSHR	OMIM:608115
HP:0025031	Abnormality of the digestive system	2492	FSHR	ORPHA:64739
HP:0025031	Abnormality of the digestive system	3431	SP110	ORPHA:79124
HP:0025031	Abnormality of the digestive system	1716	DGUOK	OMIM:251880
HP:0025031	Abnormality of the digestive system	9184	BUB3	ORPHA:1052
HP:0025031	Abnormality of the digestive system	699	BUB1	ORPHA:1052
HP:0025031	Abnormality of the digestive system	9702	CEP57	ORPHA:1052
HP:0025031	Abnormality of the digestive system	9319	TRIP13	ORPHA:1052
HP:0025031	Abnormality of the digestive system	701	BUB1B	ORPHA:1052
HP:0025031	Abnormality of the digestive system	5277	PIGA	OMIM:300868
HP:0025031	Abnormality of the digestive system	55340	GIMAP5	OMIM:619463
HP:0025031	Abnormality of the digestive system	4591	TRIM37	OMIM:253250
HP:0025031	Abnormality of the digestive system	63901	FAM111A	OMIM:602361
HP:0025031	Abnormality of the digestive system	650	BMP2	OMIM:235200
HP:0025031	Abnormality of the digestive system	3077	HFE	OMIM:235200
HP:0025031	Abnormality of the digestive system	129563	DIS3L2	OMIM:267000
HP:0025031	Abnormality of the digestive system	4607	MYBPC3	OMIM:115197
HP:0025031	Abnormality of the digestive system	5167	ENPP1	ORPHA:51608
HP:0025031	Abnormality of the digestive system	368	ABCC6	ORPHA:51608
HP:0025031	Abnormality of the digestive system	54914	FOCAD	OMIM:619991
HP:0025031	Abnormality of the digestive system	222546	RFX6	OMIM:615710
HP:0025031	Abnormality of the digestive system	9508	ADAMTS3	ORPHA:2136
HP:0025031	Abnormality of the digestive system	147372	CCBE1	ORPHA:2136
HP:0025031	Abnormality of the digestive system	79633	FAT4	ORPHA:2136
HP:0025031	Abnormality of the digestive system	540	ATP7B	ORPHA:905
HP:0025031	Abnormality of the digestive system	540	ATP7B	OMIM:277900
HP:0025031	Abnormality of the digestive system	10056	FARSB	OMIM:613658
HP:0025031	Abnormality of the digestive system	5589	PRKCSH	OMIM:174050
HP:0025031	Abnormality of the digestive system	6609	SMPD1	OMIM:257200
HP:0025031	Abnormality of the digestive system	4210	MEFV	ORPHA:342
HP:0025031	Abnormality of the digestive system	2990	GUSB	ORPHA:584
HP:0025031	Abnormality of the digestive system	81	ACTN4	OMIM:603278
HP:0025031	Abnormality of the digestive system	3594	IL12RB1	ORPHA:186
HP:0025031	Abnormality of the digestive system	23534	TNPO3	ORPHA:186
HP:0025031	Abnormality of the digestive system	3592	IL12A	ORPHA:186
HP:0025031	Abnormality of the digestive system	6689	SPIB	ORPHA:186
HP:0025031	Abnormality of the digestive system	5450	POU2AF1	ORPHA:186
HP:0025031	Abnormality of the digestive system	9966	TNFSF15	ORPHA:186
HP:0025031	Abnormality of the digestive system	79258	MMEL1	ORPHA:186
HP:0025031	Abnormality of the digestive system	3663	IRF5	ORPHA:186
HP:0025031	Abnormality of the digestive system	100147744	RNU7-1	OMIM:619487
HP:0025031	Abnormality of the digestive system	202018	TAPT1	OMIM:616897
HP:0025031	Abnormality of the digestive system	5573	PRKAR1A	ORPHA:615
HP:0025031	Abnormality of the digestive system	3516	RBPJ	ORPHA:974
HP:0025031	Abnormality of the digestive system	4851	NOTCH1	ORPHA:974
HP:0025031	Abnormality of the digestive system	57514	ARHGAP31	ORPHA:974
HP:0025031	Abnormality of the digestive system	57572	DOCK6	ORPHA:974
HP:0025031	Abnormality of the digestive system	285203	EOGT	ORPHA:974
HP:0025031	Abnormality of the digestive system	54567	DLL4	ORPHA:974
HP:0025031	Abnormality of the digestive system	199221	DZIP1L	ORPHA:731
HP:0025031	Abnormality of the digestive system	2767	GNA11	ORPHA:1556
HP:0025031	Abnormality of the digestive system	151188	ARL6IP6	ORPHA:1556
HP:0025031	Abnormality of the digestive system	2271	FH	OMIM:606812
HP:0025031	Abnormality of the digestive system	3988	LIPA	ORPHA:75233
HP:0025031	Abnormality of the digestive system	811	CALR	ORPHA:131
HP:0025031	Abnormality of the digestive system	3717	JAK2	ORPHA:131
HP:0025031	Abnormality of the digestive system	2153	F5	ORPHA:131
HP:0025031	Abnormality of the digestive system	79989	IFT56	OMIM:619534
HP:0025031	Abnormality of the digestive system	26503	SLC17A5	OMIM:269920
HP:0025031	Abnormality of the digestive system	79651	RHBDF2	ORPHA:2198
HP:0025031	Abnormality of the digestive system	6329	SCN4A	OMIM:620369
HP:0025031	Abnormality of the digestive system	2184	FAH	OMIM:276700
HP:0025031	Abnormality of the digestive system	2072	ERCC4	OMIM:610965
HP:0025031	Abnormality of the digestive system	55901	THSD1	OMIM:620244
HP:0025031	Abnormality of the digestive system	9451	EIF2AK3	ORPHA:1667
HP:0025031	Abnormality of the digestive system	28962	OSTM1	OMIM:259720
HP:0025031	Abnormality of the digestive system	57539	WDR35	OMIM:614091
HP:0025031	Abnormality of the digestive system	1536	CYBB	OMIM:306400
HP:0025031	Abnormality of the digestive system	1604	CD55	OMIM:226300
HP:0025031	Abnormality of the digestive system	950	SCARB2	ORPHA:77259
HP:0025031	Abnormality of the digestive system	10262	SF3B4	OMIM:154400
HP:0025031	Abnormality of the digestive system	7473	WNT3	OMIM:273395
HP:0025031	Abnormality of the digestive system	7994	KAT6A	OMIM:616268
HP:0025031	Abnormality of the digestive system	10269	ZMPSTE24	ORPHA:740
HP:0025031	Abnormality of the digestive system	1024	CDK8	OMIM:618748
HP:0025031	Abnormality of the digestive system	6091	ROBO1	OMIM:620305
HP:0025031	Abnormality of the digestive system	8942	KYNU	OMIM:617661
HP:0025031	Abnormality of the digestive system	1654	DDX3X	ORPHA:3338
HP:0025031	Abnormality of the digestive system	93210	PGAP3	ORPHA:247262
HP:0025031	Abnormality of the digestive system	4081	MAB21L1	ORPHA:495875
HP:0025031	Abnormality of the digestive system	1108	CHD4	OMIM:617159
HP:0025031	Abnormality of the digestive system	1642	DDB1	OMIM:619426
HP:0025031	Abnormality of the digestive system	26005	C2CD3	OMIM:615948
HP:0025031	Abnormality of the digestive system	3848	KRT1	ORPHA:530838
HP:0025031	Abnormality of the digestive system	6023	RMRP	ORPHA:175
HP:0025031	Abnormality of the digestive system	27031	NPHP3	ORPHA:3032
HP:0025031	Abnormality of the digestive system	2263	FGFR2	ORPHA:1555
HP:0025031	Abnormality of the digestive system	11231	SEC63	ORPHA:2924
HP:0025031	Abnormality of the digestive system	4041	LRP5	ORPHA:2924
HP:0025031	Abnormality of the digestive system	8481	OFD1	ORPHA:2750
HP:0025031	Abnormality of the digestive system	3239	HOXD13	ORPHA:887
HP:0025031	Abnormality of the digestive system	593	BCKDHA	OMIM:248600
HP:0025031	Abnormality of the digestive system	10273	STUB1	ORPHA:412057
HP:0025031	Abnormality of the digestive system	1175	AP2S1	OMIM:600740
HP:0025031	Abnormality of the digestive system	64788	LMF1	OMIM:246650
HP:0025031	Abnormality of the digestive system	286053	NSMCE2	OMIM:617253
HP:0025031	Abnormality of the digestive system	51726	DNAJB11	ORPHA:730
HP:0025031	Abnormality of the digestive system	5310	PKD1	ORPHA:730
HP:0025031	Abnormality of the digestive system	29880	ALG5	ORPHA:730
HP:0025031	Abnormality of the digestive system	80114	BICC1	ORPHA:730
HP:0025031	Abnormality of the digestive system	63929	XPNPEP3	OMIM:613159
HP:0025031	Abnormality of the digestive system	23019	CNOT1	OMIM:618500
HP:0025031	Abnormality of the digestive system	22800	RRAS2	ORPHA:648
HP:0025031	Abnormality of the digestive system	8216	LZTR1	ORPHA:648
HP:0025031	Abnormality of the digestive system	6016	RIT1	ORPHA:648
HP:0025031	Abnormality of the digestive system	6237	RRAS	ORPHA:648
HP:0025031	Abnormality of the digestive system	5894	RAF1	ORPHA:648
HP:0025031	Abnormality of the digestive system	22808	MRAS	ORPHA:648
HP:0025031	Abnormality of the digestive system	200734	SPRED2	ORPHA:648
HP:0025031	Abnormality of the digestive system	4893	NRAS	ORPHA:648
HP:0025031	Abnormality of the digestive system	6654	SOS1	ORPHA:648
HP:0025031	Abnormality of the digestive system	6655	SOS2	ORPHA:648
HP:0025031	Abnormality of the digestive system	5781	PTPN11	ORPHA:648
HP:0025031	Abnormality of the digestive system	5922	RASA2	ORPHA:648
HP:0025031	Abnormality of the digestive system	8091	HMGA2	ORPHA:94063
HP:0025031	Abnormality of the digestive system	23592	LEMD3	ORPHA:94063
HP:0025031	Abnormality of the digestive system	1497	CTNS	OMIM:219800
HP:0025031	Abnormality of the digestive system	7293	TNFRSF4	OMIM:615593
HP:0025031	Abnormality of the digestive system	1493	CTLA4	ORPHA:436159
HP:0025031	Abnormality of the digestive system	1493	CTLA4	OMIM:616100
HP:0025031	Abnormality of the digestive system	1493	CTLA4	ORPHA:3162
HP:0025031	Abnormality of the digestive system	1493	CTLA4	ORPHA:2584
HP:0025031	Abnormality of the digestive system	5993	RFX5	OMIM:620816
HP:0025031	Abnormality of the digestive system	5994	RFXAP	OMIM:620817
HP:0025031	Abnormality of the digestive system	3145	HMBS	OMIM:620704
HP:0025031	Abnormality of the digestive system	1161	ERCC8	ORPHA:90324
HP:0025031	Abnormality of the digestive system	1161	ERCC8	OMIM:216400
HP:0025031	Abnormality of the digestive system	2074	ERCC6	ORPHA:90324
HP:0025031	Abnormality of the digestive system	2074	ERCC6	OMIM:133540
HP:0025031	Abnormality of the digestive system	8573	CASK	OMIM:300908
HP:0025031	Abnormality of the digestive system	2539	G6PD	OMIM:300908
HP:0025031	Abnormality of the digestive system	55240	STEAP3	OMIM:615234
HP:0025031	Abnormality of the digestive system	4860	PNP	OMIM:613179
HP:0025031	Abnormality of the digestive system	19	ABCA1	OMIM:205400
HP:0025031	Abnormality of the digestive system	2720	GLB1	OMIM:230600
HP:0025031	Abnormality of the digestive system	2720	GLB1	OMIM:230650
HP:0025031	Abnormality of the digestive system	2720	GLB1	OMIM:230500
HP:0025031	Abnormality of the digestive system	755	CFAP410	OMIM:602271
HP:0025031	Abnormality of the digestive system	148738	HJV	OMIM:602390
HP:0025031	Abnormality of the digestive system	84433	CARD11	OMIM:616452
HP:0025031	Abnormality of the digestive system	5184	PEPD	OMIM:170100
HP:0025031	Abnormality of the digestive system	5184	PEPD	ORPHA:742
HP:0025031	Abnormality of the digestive system	65082	VPS33A	OMIM:617303
HP:0025031	Abnormality of the digestive system	84936	ZFYVE19	OMIM:619849
HP:0025031	Abnormality of the digestive system	10730	YME1L1	OMIM:617302
HP:0025031	Abnormality of the digestive system	55768	NGLY1	ORPHA:404454
HP:0025031	Abnormality of the digestive system	79158	GNPTAB	OMIM:252500
HP:0025031	Abnormality of the digestive system	79158	GNPTAB	OMIM:252600
HP:0025031	Abnormality of the digestive system	79158	GNPTAB	ORPHA:576
HP:0025031	Abnormality of the digestive system	6772	STAT1	OMIM:614162
HP:0025031	Abnormality of the digestive system	60561	RINT1	OMIM:618641
HP:0025031	Abnormality of the digestive system	103	ADAR	OMIM:615010
HP:0025031	Abnormality of the digestive system	6573	SLC19A1	OMIM:620603
HP:0025031	Abnormality of the digestive system	3423	IDS	ORPHA:217085
HP:0025031	Abnormality of the digestive system	3423	IDS	OMIM:309900
HP:0025031	Abnormality of the digestive system	3423	IDS	ORPHA:217093
HP:0025031	Abnormality of the digestive system	1441	CSF3R	OMIM:162830
HP:0025031	Abnormality of the digestive system	2035	EPB41	ORPHA:288
HP:0025031	Abnormality of the digestive system	2035	EPB41	OMIM:611804
HP:0025031	Abnormality of the digestive system	2995	GYPC	ORPHA:288
HP:0025031	Abnormality of the digestive system	6710	SPTB	ORPHA:288
HP:0025031	Abnormality of the digestive system	6710	SPTB	ORPHA:822
HP:0025031	Abnormality of the digestive system	6710	SPTB	OMIM:616649
HP:0025031	Abnormality of the digestive system	6708	SPTA1	ORPHA:288
HP:0025031	Abnormality of the digestive system	6708	SPTA1	ORPHA:822
HP:0025031	Abnormality of the digestive system	1130	LYST	ORPHA:167
HP:0025031	Abnormality of the digestive system	1130	LYST	OMIM:214500
HP:0025031	Abnormality of the digestive system	57231	SNX14	OMIM:616354
HP:0025031	Abnormality of the digestive system	28755	TRAC	OMIM:615387
HP:0025031	Abnormality of the digestive system	2623	GATA1	OMIM:314050
HP:0025031	Abnormality of the digestive system	2623	GATA1	ORPHA:231393
HP:0025031	Abnormality of the digestive system	2623	GATA1	ORPHA:79277
HP:0025031	Abnormality of the digestive system	1371	CPOX	OMIM:618892
HP:0025031	Abnormality of the digestive system	1371	CPOX	OMIM:121300
HP:0025031	Abnormality of the digestive system	80739	MPIG6B	OMIM:617441
HP:0025031	Abnormality of the digestive system	10125	RASGRP1	OMIM:618534
HP:0025031	Abnormality of the digestive system	4645	MYO5B	OMIM:619868
HP:0025031	Abnormality of the digestive system	3039	HBA1	ORPHA:163596
HP:0025031	Abnormality of the digestive system	3039	HBA1	OMIM:613978
HP:0025031	Abnormality of the digestive system	3040	HBA2	ORPHA:163596
HP:0025031	Abnormality of the digestive system	3040	HBA2	OMIM:613978
HP:0025031	Abnormality of the digestive system	10019	SH2B3	OMIM:133100
HP:0025031	Abnormality of the digestive system	10019	SH2B3	ORPHA:3318
HP:0025031	Abnormality of the digestive system	10019	SH2B3	OMIM:187950
HP:0025031	Abnormality of the digestive system	10019	SH2B3	OMIM:254450
HP:0025031	Abnormality of the digestive system	2057	EPOR	OMIM:133100
HP:0025031	Abnormality of the digestive system	1186	CLCN7	OMIM:618541
HP:0025031	Abnormality of the digestive system	1186	CLCN7	ORPHA:667
HP:0025031	Abnormality of the digestive system	1186	CLCN7	OMIM:611490
HP:0025031	Abnormality of the digestive system	10661	KLF1	ORPHA:46532
HP:0025031	Abnormality of the digestive system	10661	KLF1	ORPHA:251380
HP:0025031	Abnormality of the digestive system	10661	KLF1	OMIM:613673
HP:0025031	Abnormality of the digestive system	3047	HBG1	ORPHA:46532
HP:0025031	Abnormality of the digestive system	3047	HBG1	ORPHA:251380
HP:0025031	Abnormality of the digestive system	3048	HBG2	ORPHA:46532
HP:0025031	Abnormality of the digestive system	3048	HBG2	ORPHA:251380
HP:0025031	Abnormality of the digestive system	1594	CYP27B1	ORPHA:289157
HP:0025031	Abnormality of the digestive system	120227	CYP2R1	ORPHA:289157
HP:0025031	Abnormality of the digestive system	286	ANK1	ORPHA:251066
HP:0025031	Abnormality of the digestive system	286	ANK1	OMIM:182900
HP:0025031	Abnormality of the digestive system	286	ANK1	ORPHA:822
HP:0025031	Abnormality of the digestive system	285362	SUMF1	OMIM:272200
HP:0025031	Abnormality of the digestive system	285362	SUMF1	ORPHA:585
HP:0025031	Abnormality of the digestive system	5896	RAG1	OMIM:603554
HP:0025031	Abnormality of the digestive system	5896	RAG1	ORPHA:39041
HP:0025031	Abnormality of the digestive system	5896	RAG1	ORPHA:231154
HP:0025031	Abnormality of the digestive system	5897	RAG2	OMIM:603554
HP:0025031	Abnormality of the digestive system	5897	RAG2	ORPHA:39041
HP:0025031	Abnormality of the digestive system	64421	DCLRE1C	OMIM:603554
HP:0025031	Abnormality of the digestive system	64421	DCLRE1C	OMIM:602450
HP:0025031	Abnormality of the digestive system	64421	DCLRE1C	ORPHA:39041
HP:0025031	Abnormality of the digestive system	5551	PRF1	OMIM:603553
HP:0025031	Abnormality of the digestive system	5551	PRF1	ORPHA:540
HP:0025031	Abnormality of the digestive system	8676	STX11	OMIM:603552
HP:0025031	Abnormality of the digestive system	8676	STX11	ORPHA:540
HP:0025031	Abnormality of the digestive system	11311	VPS45	OMIM:615285
HP:0025031	Abnormality of the digestive system	2542	SLC37A4	OMIM:619525
HP:0025031	Abnormality of the digestive system	2542	SLC37A4	OMIM:232220
HP:0025031	Abnormality of the digestive system	55072	RNF31	OMIM:620632
HP:0025031	Abnormality of the digestive system	2683	B4GALT1	ORPHA:79332
HP:0025031	Abnormality of the digestive system	57104	PNPLA2	OMIM:610717
HP:0025031	Abnormality of the digestive system	57104	PNPLA2	ORPHA:565612
HP:0025031	Abnormality of the digestive system	9968	MED12	OMIM:301068
HP:0025031	Abnormality of the digestive system	2239	GPC4	ORPHA:373
HP:0025031	Abnormality of the digestive system	2239	GPC4	OMIM:312870
HP:0025031	Abnormality of the digestive system	5692	PSMB4	OMIM:617591
HP:0025031	Abnormality of the digestive system	5286	PIK3C2A	OMIM:618440
HP:0025031	Abnormality of the digestive system	8565	YARS1	OMIM:619418
HP:0025031	Abnormality of the digestive system	654	BMP6	ORPHA:465508
HP:0025031	Abnormality of the digestive system	54532	USP53	OMIM:619658
HP:0025031	Abnormality of the digestive system	51311	TLR8	OMIM:301078
HP:0025031	Abnormality of the digestive system	5825	ABCD3	OMIM:616278
HP:0025031	Abnormality of the digestive system	5256	PHKA2	ORPHA:264580
HP:0025031	Abnormality of the digestive system	5256	PHKA2	OMIM:306000
HP:0025031	Abnormality of the digestive system	5261	PHKG2	ORPHA:264580
HP:0025031	Abnormality of the digestive system	5261	PHKG2	OMIM:613027
HP:0025031	Abnormality of the digestive system	344	APOC2	OMIM:207750
HP:0025031	Abnormality of the digestive system	846	CASR	OMIM:239200
HP:0025031	Abnormality of the digestive system	846	CASR	ORPHA:417
HP:0025031	Abnormality of the digestive system	4594	MMUT	ORPHA:79312
HP:0025031	Abnormality of the digestive system	65992	DDRGK1	OMIM:602557
HP:0025031	Abnormality of the digestive system	6448	SGSH	OMIM:252900
HP:0025031	Abnormality of the digestive system	4598	MVK	ORPHA:29
HP:0025031	Abnormality of the digestive system	4598	MVK	OMIM:260920
HP:0025031	Abnormality of the digestive system	331	XIAP	OMIM:300635
HP:0025031	Abnormality of the digestive system	331	XIAP	OMIM:308240
HP:0025031	Abnormality of the digestive system	331	XIAP	ORPHA:538934
HP:0025031	Abnormality of the digestive system	3659	IRF1	OMIM:620668
HP:0025031	Abnormality of the digestive system	22806	IKZF3	OMIM:619437
HP:0025031	Abnormality of the digestive system	9842	PLEKHM1	OMIM:618107
HP:0025031	Abnormality of the digestive system	6916	TBXAS1	ORPHA:1802
HP:0025031	Abnormality of the digestive system	4023	LPL	OMIM:238600
HP:0025031	Abnormality of the digestive system	959	CD40LG	OMIM:308230
HP:0025031	Abnormality of the digestive system	23451	SF3B1	ORPHA:75564
HP:0025031	Abnormality of the digestive system	53335	BCL11A	ORPHA:251380
HP:0025031	Abnormality of the digestive system	10312	TCIRG1	ORPHA:667
HP:0025031	Abnormality of the digestive system	10312	TCIRG1	OMIM:259700
HP:0025031	Abnormality of the digestive system	29887	SNX10	ORPHA:667
HP:0025031	Abnormality of the digestive system	29887	SNX10	OMIM:615085
HP:0025031	Abnormality of the digestive system	8600	TNFSF11	ORPHA:667
HP:0025031	Abnormality of the digestive system	201294	UNC13D	ORPHA:540
HP:0025031	Abnormality of the digestive system	6813	STXBP2	ORPHA:540
HP:0025031	Abnormality of the digestive system	6813	STXBP2	OMIM:613101
HP:0025031	Abnormality of the digestive system	5009	OTC	ORPHA:664
HP:0025031	Abnormality of the digestive system	7372	UMPS	ORPHA:30
HP:0025031	Abnormality of the digestive system	58484	NLRC4	OMIM:616050
HP:0025031	Abnormality of the digestive system	11277	TREX1	OMIM:225750
HP:0025031	Abnormality of the digestive system	22861	NLRP1	OMIM:617388
HP:0025031	Abnormality of the digestive system	5660	PSAP	OMIM:611721
HP:0025031	Abnormality of the digestive system	5660	PSAP	OMIM:610539
HP:0025031	Abnormality of the digestive system	5660	PSAP	ORPHA:139406
HP:0025031	Abnormality of the digestive system	55503	TRPV6	ORPHA:417
HP:0025031	Abnormality of the digestive system	81858	SHARPIN	OMIM:620795
HP:0025031	Abnormality of the digestive system	5698	PSMB9	OMIM:620796
HP:0025031	Abnormality of the digestive system	7132	TNFRSF1A	ORPHA:32960
HP:0025031	Abnormality of the digestive system	4068	SH2D1A	OMIM:308240
HP:0025031	Abnormality of the digestive system	23218	NBEAL2	OMIM:139090
HP:0025031	Abnormality of the digestive system	23218	NBEAL2	ORPHA:721
HP:0025031	Abnormality of the digestive system	114548	NLRP3	ORPHA:575
HP:0025031	Abnormality of the digestive system	114548	NLRP3	ORPHA:1451
HP:0025031	Abnormality of the digestive system	84061	MAGT1	OMIM:300853
HP:0025031	Abnormality of the digestive system	537	ATP6AP1	OMIM:300972
HP:0025031	Abnormality of the digestive system	4125	MAN2B1	OMIM:248500
HP:0025031	Abnormality of the digestive system	3756	KCNH1	OMIM:135500
HP:0025031	Abnormality of the digestive system	3756	KCNH1	ORPHA:3473
HP:0025031	Abnormality of the digestive system	3394	IRF8	OMIM:226990
HP:0025031	Abnormality of the digestive system	3643	INSR	OMIM:246200
HP:0025031	Abnormality of the digestive system	6718	AKR1D1	OMIM:235555
HP:0025031	Abnormality of the digestive system	10092	ARPC5	OMIM:620565
HP:0025031	Abnormality of the digestive system	1312	COMT	ORPHA:567
HP:0025031	Abnormality of the digestive system	221037	JMJD1C	ORPHA:567
HP:0025031	Abnormality of the digestive system	2812	GP1BB	ORPHA:567
HP:0025031	Abnormality of the digestive system	6239	RREB1	ORPHA:567
HP:0025031	Abnormality of the digestive system	6899	TBX1	ORPHA:567
HP:0025031	Abnormality of the digestive system	6899	TBX1	OMIM:188400
HP:0025031	Abnormality of the digestive system	7290	HIRA	ORPHA:567
HP:0025031	Abnormality of the digestive system	9632	SEC24C	ORPHA:567
HP:0025031	Abnormality of the digestive system	7353	UFD1	ORPHA:567
HP:0025031	Abnormality of the digestive system	421	ARVCF	ORPHA:567
HP:0025031	Abnormality of the digestive system	7389	UROD	ORPHA:95159
HP:0025031	Abnormality of the digestive system	212	ALAS2	ORPHA:75563
HP:0025031	Abnormality of the digestive system	546	ATRX	ORPHA:231401
HP:0025031	Abnormality of the digestive system	3560	IL2RB	OMIM:618495
HP:0025031	Abnormality of the digestive system	8883	NAE1	OMIM:620210
HP:0025031	Abnormality of the digestive system	84701	COX4I2	OMIM:612714
HP:0025031	Abnormality of the digestive system	8943	AP3D1	OMIM:617050
HP:0025031	Abnormality of the digestive system	57003	CCDC47	OMIM:618268
HP:0025031	Abnormality of the digestive system	51095	TRNT1	OMIM:616084
HP:0025031	Abnormality of the digestive system	83706	FERMT3	OMIM:612840
HP:0025031	Abnormality of the digestive system	9420	CYP7B1	OMIM:613812
HP:0025031	Abnormality of the digestive system	55636	CHD7	ORPHA:39041
HP:0025031	Abnormality of the digestive system	100	ADA	ORPHA:39041
HP:0025031	Abnormality of the digestive system	100	ADA	OMIM:102700
HP:0025031	Abnormality of the digestive system	3575	IL7R	ORPHA:39041
HP:0025031	Abnormality of the digestive system	3575	IL7R	OMIM:608971
HP:0025031	Abnormality of the digestive system	3561	IL2RG	ORPHA:39041
HP:0025031	Abnormality of the digestive system	207	AKT1	ORPHA:744
HP:0025031	Abnormality of the digestive system	207	AKT1	OMIM:176920
HP:0025031	Abnormality of the digestive system	84868	HAVCR2	OMIM:618398
HP:0025031	Abnormality of the digestive system	7504	XK	OMIM:300842
HP:0025031	Abnormality of the digestive system	10483	SEC23B	OMIM:224100
HP:0025031	Abnormality of the digestive system	60468	BACH2	OMIM:618394
HP:0025031	Abnormality of the digestive system	226	ALDOA	OMIM:611881
HP:0025031	Abnormality of the digestive system	3557	IL1RN	OMIM:612852
HP:0025031	Abnormality of the digestive system	91662	NLRP12	OMIM:611762
HP:0025031	Abnormality of the digestive system	2799	GNS	OMIM:252940
HP:0025031	Abnormality of the digestive system	5264	PHYH	ORPHA:773
HP:0025031	Abnormality of the digestive system	5191	PEX7	ORPHA:773
HP:0025031	Abnormality of the digestive system	940	CD28	ORPHA:3162
HP:0025031	Abnormality of the digestive system	940	CD28	ORPHA:2584
HP:0025031	Abnormality of the digestive system	7133	TNFRSF1B	ORPHA:3162
HP:0025031	Abnormality of the digestive system	7133	TNFRSF1B	ORPHA:2584
HP:0025031	Abnormality of the digestive system	7390	UROS	OMIM:263700
HP:0025031	Abnormality of the digestive system	7390	UROS	ORPHA:79277
HP:0025031	Abnormality of the digestive system	4938	OAS1	OMIM:618042
HP:0025031	Abnormality of the digestive system	8651	SOCS1	OMIM:619375
HP:0025031	Abnormality of the digestive system	2624	GATA2	ORPHA:228423
HP:0025031	Abnormality of the digestive system	138050	HGSNAT	OMIM:252930
HP:0025031	Abnormality of the digestive system	5313	PKLR	ORPHA:766
HP:0025031	Abnormality of the digestive system	5313	PKLR	OMIM:266200
HP:0025031	Abnormality of the digestive system	6850	SYK	OMIM:619381
HP:0025031	Abnormality of the digestive system	613	BCR	ORPHA:521
HP:0025031	Abnormality of the digestive system	25	ABL1	ORPHA:521
HP:0025031	Abnormality of the digestive system	5257	PHKB	OMIM:261750
HP:0025031	Abnormality of the digestive system	5257	PHKB	ORPHA:79240
HP:0025031	Abnormality of the digestive system	146059	CDAN1	OMIM:224120
HP:0025031	Abnormality of the digestive system	10535	RNASEH2A	OMIM:610333
HP:0025031	Abnormality of the digestive system	5696	PSMB8	OMIM:256040
HP:0025031	Abnormality of the digestive system	4669	NAGLU	OMIM:252920
HP:0025031	Abnormality of the digestive system	4067	LYN	OMIM:620376
HP:0025031	Abnormality of the digestive system	26276	VPS33B	OMIM:620010
HP:0025031	Abnormality of the digestive system	4352	MPL	ORPHA:71493
HP:0025031	Abnormality of the digestive system	4352	MPL	ORPHA:824
HP:0025031	Abnormality of the digestive system	4352	MPL	ORPHA:3318
HP:0025031	Abnormality of the digestive system	4352	MPL	OMIM:254450
HP:0025031	Abnormality of the digestive system	7066	THPO	ORPHA:71493
HP:0025031	Abnormality of the digestive system	7066	THPO	OMIM:187950
HP:0025031	Abnormality of the digestive system	356	FASLG	ORPHA:3261
HP:0025031	Abnormality of the digestive system	356	FASLG	OMIM:601859
HP:0025031	Abnormality of the digestive system	843	CASP10	ORPHA:3261
HP:0025031	Abnormality of the digestive system	843	CASP10	OMIM:603909
HP:0025031	Abnormality of the digestive system	2811	GP1BA	OMIM:153670
HP:0025031	Abnormality of the digestive system	144811	LACC1	ORPHA:85414
HP:0025031	Abnormality of the digestive system	3569	IL6	ORPHA:85414
HP:0025031	Abnormality of the digestive system	6521	SLC4A1	OMIM:185020
HP:0025031	Abnormality of the digestive system	6521	SLC4A1	ORPHA:822
HP:0025031	Abnormality of the digestive system	6521	SLC4A1	OMIM:612653
HP:0025031	Abnormality of the digestive system	6521	SLC4A1	ORPHA:3202
HP:0025031	Abnormality of the digestive system	987	LRBA	OMIM:614700
HP:0025031	Abnormality of the digestive system	7174	TPP2	ORPHA:444463
HP:0025031	Abnormality of the digestive system	2038	EPB42	ORPHA:822
HP:0025031	Abnormality of the digestive system	2038	EPB42	OMIM:612690
HP:0025031	Abnormality of the digestive system	23149	FCHO1	OMIM:619164
HP:0025031	Abnormality of the digestive system	1352	COX10	OMIM:619046
HP:0025031	Abnormality of the digestive system	841	CASP8	OMIM:607271
HP:0025031	Abnormality of the digestive system	7535	ZAP70	OMIM:269840
HP:0025031	Abnormality of the digestive system	3604	TNFRSF9	OMIM:620282
HP:0025031	Abnormality of the digestive system	2533	FYB1	OMIM:273900
HP:0025031	Abnormality of the digestive system	6005	RHAG	OMIM:185000
HP:0025031	Abnormality of the digestive system	6005	RHAG	ORPHA:3203
HP:0025031	Abnormality of the digestive system	5699	PSMB10	OMIM:619175
HP:0025031	Abnormality of the digestive system	348	APOE	OMIM:269600
HP:0025031	Abnormality of the digestive system	348	APOE	ORPHA:158029
HP:0025031	Abnormality of the digestive system	92579	G6PC3	OMIM:612541
HP:0025031	Abnormality of the digestive system	6786	STIM1	OMIM:612783
HP:0025031	Abnormality of the digestive system	5468	PPARG	ORPHA:79083
HP:0025031	Abnormality of the digestive system	686	BTD	OMIM:253260
HP:0025031	Abnormality of the digestive system	8792	TNFRSF11A	OMIM:612301
HP:0025031	Abnormality of the digestive system	8546	AP3B1	OMIM:608233
HP:0025031	Abnormality of the digestive system	10555	AGPAT2	OMIM:608594
HP:0025031	Abnormality of the digestive system	56984	PSMG2	OMIM:619183
HP:0025031	Abnormality of the digestive system	1717	DHCR7	OMIM:270400
HP:0025031	Abnormality of the digestive system	23230	VPS13A	ORPHA:2388
HP:0025031	Abnormality of the digestive system	526	ATP6V1B2	ORPHA:3473
HP:0025031	Abnormality of the digestive system	3782	KCNN3	ORPHA:3473
HP:0025031	Abnormality of the digestive system	3425	IDUA	OMIM:607014
HP:0025031	Abnormality of the digestive system	3425	IDUA	OMIM:607015
HP:0025031	Abnormality of the digestive system	3425	IDUA	ORPHA:93474
HP:0025031	Abnormality of the digestive system	3425	IDUA	ORPHA:93473
HP:0025031	Abnormality of the digestive system	3425	IDUA	ORPHA:93476
HP:0025031	Abnormality of the digestive system	4853	NOTCH2	ORPHA:955
HP:0025031	Abnormality of the digestive system	338328	GPIHBP1	OMIM:615947
HP:0025031	Abnormality of the digestive system	80216	ALPK1	OMIM:614979
HP:0025031	Abnormality of the digestive system	3055	HCK	OMIM:620296
HP:0025031	Abnormality of the digestive system	2243	FGA	OMIM:105200
HP:0025031	Abnormality of the digestive system	7840	ALMS1	ORPHA:64
HP:0025031	Abnormality of the digestive system	5293	PIK3CD	ORPHA:397596
HP:0025031	Abnormality of the digestive system	5293	PIK3CD	OMIM:615513
HP:0025031	Abnormality of the digestive system	64135	IFIH1	OMIM:615846
HP:0025031	Abnormality of the digestive system	8813	DPM1	OMIM:608799
HP:0025031	Abnormality of the digestive system	50628	GEMIN4	OMIM:617913
HP:0025031	Abnormality of the digestive system	57817	HAMP	OMIM:613313
HP:0025031	Abnormality of the digestive system	84317	CCDC115	OMIM:616828
HP:0025031	Abnormality of the digestive system	64241	ABCG8	OMIM:210250
HP:0025031	Abnormality of the digestive system	64241	ABCG8	ORPHA:2882
HP:0025031	Abnormality of the digestive system	93183	PIGM	OMIM:610293
HP:0025031	Abnormality of the digestive system	284119	CAVIN1	OMIM:613327
HP:0025031	Abnormality of the digestive system	57410	SCYL1	OMIM:616719
HP:0025031	Abnormality of the digestive system	219285	SAMD9L	ORPHA:2585
HP:0025031	Abnormality of the digestive system	6888	TALDO1	OMIM:606003
HP:0025031	Abnormality of the digestive system	91949	COG7	OMIM:608779
HP:0025031	Abnormality of the digestive system	7167	TPI1	OMIM:615512
HP:0025031	Abnormality of the digestive system	84529	CDIN1	OMIM:615631
HP:0025031	Abnormality of the digestive system	79848	CSPP1	OMIM:615636
HP:0025031	Abnormality of the digestive system	6513	SLC2A1	OMIM:612126
HP:0025031	Abnormality of the digestive system	6513	SLC2A1	OMIM:608885
HP:0025031	Abnormality of the digestive system	11133	KPTN	OMIM:615637
HP:0025031	Abnormality of the digestive system	4173	MCM4	OMIM:609981
HP:0025031	Abnormality of the digestive system	411	ARSB	OMIM:253200
HP:0025031	Abnormality of the digestive system	669	BPGM	OMIM:222800
HP:0025031	Abnormality of the digestive system	9948	WDR1	OMIM:150550
HP:0025031	Abnormality of the digestive system	4792	NFKBIA	OMIM:612132
HP:0025031	Abnormality of the digestive system	169792	GLIS3	OMIM:610199
HP:0025031	Abnormality of the digestive system	9076	CLDN1	ORPHA:59303
HP:0025031	Abnormality of the digestive system	9076	CLDN1	OMIM:607626
HP:0025031	Abnormality of the digestive system	51218	GLRX5	OMIM:616860
HP:0025031	Abnormality of the digestive system	2821	GPI	OMIM:613470
HP:0025031	Abnormality of the digestive system	6097	RORC	OMIM:616622
HP:0025031	Abnormality of the digestive system	10616	RBCK1	OMIM:615895
HP:0025031	Abnormality of the digestive system	6663	SOX10	ORPHA:163746
HP:0025031	Abnormality of the digestive system	9056	SLC7A7	OMIM:222700
HP:0025031	Abnormality of the digestive system	57511	COG6	OMIM:614576
HP:0025031	Abnormality of the digestive system	56623	INPP5E	ORPHA:1454
HP:0025031	Abnormality of the digestive system	23322	RPGRIP1L	ORPHA:1454
HP:0025031	Abnormality of the digestive system	57545	CC2D2A	ORPHA:1454
HP:0025031	Abnormality of the digestive system	25839	COG4	OMIM:613489
HP:0025031	Abnormality of the digestive system	5873	RAB27A	ORPHA:79477
HP:0025031	Abnormality of the digestive system	2328	FMO3	OMIM:602079
HP:0025031	Abnormality of the digestive system	10367	MICU1	OMIM:615673
HP:0025031	Abnormality of the digestive system	26580	BSCL2	OMIM:269700
HP:0025031	Abnormality of the digestive system	3702	ITK	OMIM:613011
HP:0025031	Abnormality of the digestive system	2517	FUCA1	OMIM:230000
HP:0025031	Abnormality of the digestive system	2548	GAA	OMIM:232300
HP:0025031	Abnormality of the digestive system	5580	PRKCD	OMIM:615559
HP:0025031	Abnormality of the digestive system	1718	DHCR24	ORPHA:35107
HP:0025031	Abnormality of the digestive system	100151683	RNU4ATAC	OMIM:616651
HP:0025031	Abnormality of the digestive system	83737	ITCH	OMIM:613385
HP:0025031	Abnormality of the digestive system	51816	ADA2	OMIM:615688
HP:0025031	Abnormality of the digestive system	3098	HK1	OMIM:235700
HP:0025031	Abnormality of the digestive system	3931	LCAT	ORPHA:79292
HP:0025031	Abnormality of the digestive system	100506658	OCLN	OMIM:251290
HP:0025031	Abnormality of the digestive system	5294	PIK3CG	OMIM:619802
HP:0025031	Abnormality of the digestive system	64240	ABCG5	ORPHA:2882
HP:0025031	Abnormality of the digestive system	2819	GPD1	OMIM:614480
HP:0025031	Abnormality of the digestive system	139818	DOCK11	OMIM:301109
HP:0025031	Abnormality of the digestive system	10020	GNE	OMIM:269921
HP:0025031	Abnormality of the digestive system	27040	LAT	OMIM:617514
HP:0025031	Abnormality of the digestive system	4724	NDUFS4	OMIM:252010
HP:0025031	Abnormality of the digestive system	3458	IFNG	OMIM:618963
HP:0025031	Abnormality of the digestive system	81570	CLPB	OMIM:619813
HP:0025031	Abnormality of the digestive system	139886	SPIN4	OMIM:301114
HP:0025031	Abnormality of the digestive system	8737	RIPK1	OMIM:618852
HP:0025031	Abnormality of the digestive system	28985	MCTS1	OMIM:301115
HP:0025031	Abnormality of the digestive system	10464	PIBF1	OMIM:617767
HP:0025031	Abnormality of the digestive system	3636	INPPL1	ORPHA:2746
HP:0025031	Abnormality of the digestive system	2582	GALE	OMIM:230350
HP:0025031	Abnormality of the digestive system	55329	MNS1	OMIM:618948
HP:0025031	Abnormality of the digestive system	3921	RPSA	OMIM:271400
HP:0025031	Abnormality of the digestive system	55770	EXOC2	OMIM:619306
HP:0025031	Abnormality of the digestive system	2783	GNB2	OMIM:619503
HP:0025031	Abnormality of the digestive system	10577	NPC2	OMIM:607625
HP:0025031	Abnormality of the digestive system	3295	HSD17B4	OMIM:261515
HP:0025031	Abnormality of the digestive system	29969	MDFIC	OMIM:620014
HP:0025031	Abnormality of the digestive system	4864	NPC1	OMIM:257220
HP:0025031	Abnormality of the digestive system	5745	PTH1R	OMIM:215045
HP:0025031	Abnormality of the digestive system	6007	RHD	OMIM:619462
HP:0025031	Abnormality of the digestive system	1984	EIF5A	OMIM:619376
HP:0025031	Abnormality of the digestive system	5339	PLEC	ORPHA:79401
HP:0025031	Abnormality of the digestive system	4522	MTHFD1	OMIM:617780
HP:0025031	Abnormality of the digestive system	3284	HSD3B2	ORPHA:90791
HP:0025031	Abnormality of the digestive system	51594	NBAS	OMIM:616483
HP:0025031	Abnormality of the digestive system	2099	ESR1	OMIM:157300
HP:0025031	Abnormality of the digestive system	7124	TNF	OMIM:157300
HP:0025031	Abnormality of the digestive system	56606	SLC2A9	ORPHA:94088
HP:0025031	Abnormality of the digestive system	116085	SLC22A12	ORPHA:94088
HP:0025031	Abnormality of the digestive system	3712	IVD	ORPHA:33
HP:0025031	Abnormality of the digestive system	3712	IVD	OMIM:243500
HP:0025031	Abnormality of the digestive system	2710	GK	OMIM:307030
HP:0025031	Abnormality of the digestive system	8869	ST3GAL5	OMIM:609056
HP:0025031	Abnormality of the digestive system	5903	RANBP2	ORPHA:88619
HP:0025031	Abnormality of the digestive system	4714	NDUFB8	OMIM:618252
HP:0025031	Abnormality of the digestive system	5019	OXCT1	OMIM:245050
HP:0025031	Abnormality of the digestive system	8086	AAAS	ORPHA:869
HP:0025031	Abnormality of the digestive system	50617	ATP6V0A4	OMIM:602722
HP:0025031	Abnormality of the digestive system	1591	CYP24A1	OMIM:143880
HP:0025031	Abnormality of the digestive system	84300	UQCC2	OMIM:615824
HP:0025031	Abnormality of the digestive system	56922	MCCC1	OMIM:210200
HP:0025031	Abnormality of the digestive system	7809	BSND	ORPHA:89938
HP:0025031	Abnormality of the digestive system	1187	CLCNKA	ORPHA:89938
HP:0025031	Abnormality of the digestive system	4488	MSX2	ORPHA:60015
HP:0025031	Abnormality of the digestive system	60529	ALX4	ORPHA:60015
HP:0025031	Abnormality of the digestive system	347733	TUBB2B	ORPHA:45358
HP:0025031	Abnormality of the digestive system	401	PHOX2A	ORPHA:45358
HP:0025031	Abnormality of the digestive system	10381	TUBB3	ORPHA:45358
HP:0025031	Abnormality of the digestive system	1537	CYC1	OMIM:615453
HP:0025031	Abnormality of the digestive system	8139	GAN	OMIM:256850
HP:0025031	Abnormality of the digestive system	27034	ACAD8	ORPHA:79159
HP:0025031	Abnormality of the digestive system	6335	SCN9A	OMIM:133020
HP:0025031	Abnormality of the digestive system	90268	OTULIN	OMIM:617099
HP:0025031	Abnormality of the digestive system	197322	ACSF3	OMIM:614265
HP:0025031	Abnormality of the digestive system	6809	STX3	ORPHA:2290
HP:0025031	Abnormality of the digestive system	26873	OPLAH	OMIM:260005
HP:0025031	Abnormality of the digestive system	1593	CYP27A1	OMIM:213700
HP:0025031	Abnormality of the digestive system	23417	MLYCD	OMIM:248360
HP:0025031	Abnormality of the digestive system	5651	TMPRSS15	OMIM:226200
HP:0025031	Abnormality of the digestive system	1644	DDC	ORPHA:35708
HP:0025031	Abnormality of the digestive system	1644	DDC	OMIM:608643
HP:0025031	Abnormality of the digestive system	790	CAD	OMIM:616457
HP:0025031	Abnormality of the digestive system	23474	ETHE1	ORPHA:51188
HP:0025031	Abnormality of the digestive system	3735	KARS1	ORPHA:3240
HP:0025031	Abnormality of the digestive system	81693	AMN	OMIM:618882
HP:0025031	Abnormality of the digestive system	55107	ANO1	OMIM:620045
HP:0025031	Abnormality of the digestive system	7276	TTR	OMIM:105210
HP:0025031	Abnormality of the digestive system	7276	TTR	ORPHA:85447
HP:0025031	Abnormality of the digestive system	1621	DBH	ORPHA:230
HP:0025031	Abnormality of the digestive system	57680	CHD8	OMIM:615032
HP:0025031	Abnormality of the digestive system	8659	ALDH4A1	ORPHA:79101
HP:0025031	Abnormality of the digestive system	92667	MGME1	ORPHA:352447
HP:0025031	Abnormality of the digestive system	4306	NR3C2	OMIM:177735
HP:0025031	Abnormality of the digestive system	55739	NAXD	OMIM:618321
HP:0025031	Abnormality of the digestive system	710	SERPING1	OMIM:106100
HP:0025031	Abnormality of the digestive system	710	SERPING1	ORPHA:100050
HP:0025031	Abnormality of the digestive system	56246	MRAP	ORPHA:361
HP:0025031	Abnormality of the digestive system	6770	STAR	ORPHA:361
HP:0025031	Abnormality of the digestive system	4158	MC2R	ORPHA:361
HP:0025031	Abnormality of the digestive system	23530	NNT	ORPHA:361
HP:0025031	Abnormality of the digestive system	10587	TXNRD2	ORPHA:361
HP:0025031	Abnormality of the digestive system	8694	DGAT1	OMIM:615863
HP:0025031	Abnormality of the digestive system	165918	RNF168	ORPHA:420741
HP:0025031	Abnormality of the digestive system	10878	CFHR3	OMIM:235400
HP:0025031	Abnormality of the digestive system	3075	CFH	OMIM:235400
HP:0025031	Abnormality of the digestive system	3078	CFHR1	OMIM:235400
HP:0025031	Abnormality of the digestive system	4558	MT-TF	ORPHA:550
HP:0025031	Abnormality of the digestive system	4572	MT-TQ	ORPHA:550
HP:0025031	Abnormality of the digestive system	4512	MT-CO1	ORPHA:550
HP:0025031	Abnormality of the digestive system	4513	MT-CO2	ORPHA:550
HP:0025031	Abnormality of the digestive system	4514	MT-CO3	ORPHA:550
HP:0025031	Abnormality of the digestive system	4575	MT-TS2	ORPHA:550
HP:0025031	Abnormality of the digestive system	4564	MT-TH	ORPHA:550
HP:0025031	Abnormality of the digestive system	55388	MCM10	OMIM:619313
HP:0025031	Abnormality of the digestive system	4803	NGF	OMIM:608654
HP:0025031	Abnormality of the digestive system	10560	SLC19A2	ORPHA:49827
HP:0025031	Abnormality of the digestive system	9837	GINS1	OMIM:617827
HP:0025031	Abnormality of the digestive system	915	CD3D	ORPHA:169160
HP:0025031	Abnormality of the digestive system	916	CD3E	ORPHA:169160
HP:0025031	Abnormality of the digestive system	919	CD247	ORPHA:169160
HP:0025031	Abnormality of the digestive system	4128	MAOA	OMIM:300615
HP:0025031	Abnormality of the digestive system	22845	DOLK	OMIM:610768
HP:0025031	Abnormality of the digestive system	6557	SLC12A1	OMIM:601678
HP:0025031	Abnormality of the digestive system	1760	DMPK	ORPHA:589821
HP:0025031	Abnormality of the digestive system	3758	KCNJ1	OMIM:241200
HP:0025031	Abnormality of the digestive system	190	NR0B1	ORPHA:95702
HP:0025031	Abnormality of the digestive system	11280	SCN11A	OMIM:615548
HP:0025031	Abnormality of the digestive system	4548	MTR	OMIM:250940
HP:0025031	Abnormality of the digestive system	7454	WAS	OMIM:301000
HP:0025031	Abnormality of the digestive system	3514	IGKC	OMIM:614102
HP:0025031	Abnormality of the digestive system	79783	SUGCT	OMIM:231690
HP:0025031	Abnormality of the digestive system	64711	HS3ST6	OMIM:619367
HP:0025031	Abnormality of the digestive system	1674	DES	OMIM:601419
HP:0025031	Abnormality of the digestive system	3033	HADH	ORPHA:71212
HP:0025031	Abnormality of the digestive system	6337	SCNN1A	OMIM:264350
HP:0025031	Abnormality of the digestive system	7482	WNT2B	OMIM:618168
HP:0025031	Abnormality of the digestive system	210	ALAD	ORPHA:100924
HP:0025031	Abnormality of the digestive system	551	AVP	ORPHA:30925
HP:0025031	Abnormality of the digestive system	11011	TLK2	OMIM:618050
HP:0025031	Abnormality of the digestive system	7388	UQCRH	OMIM:620137
HP:0025031	Abnormality of the digestive system	1410	CRYAB	OMIM:608810
HP:0025031	Abnormality of the digestive system	1410	CRYAB	ORPHA:399058
HP:0025031	Abnormality of the digestive system	55703	POLR3B	OMIM:614381
HP:0025031	Abnormality of the digestive system	55703	POLR3B	OMIM:607694
HP:0025031	Abnormality of the digestive system	57679	ALS2	ORPHA:247604
HP:0025031	Abnormality of the digestive system	57679	ALS2	OMIM:205100
HP:0025031	Abnormality of the digestive system	57679	ALS2	ORPHA:300605
HP:0025031	Abnormality of the digestive system	57679	ALS2	OMIM:607225
HP:0025031	Abnormality of the digestive system	57679	ALS2	OMIM:606353
HP:0025031	Abnormality of the digestive system	11160	ERLIN2	ORPHA:247604
HP:0025031	Abnormality of the digestive system	11160	ERLIN2	ORPHA:280384
HP:0025031	Abnormality of the digestive system	11160	ERLIN2	ORPHA:209951
HP:0025031	Abnormality of the digestive system	9499	MYOT	ORPHA:266
HP:0025031	Abnormality of the digestive system	6687	SPG7	ORPHA:99013
HP:0025031	Abnormality of the digestive system	6687	SPG7	OMIM:607259
HP:0025031	Abnormality of the digestive system	6687	SPG7	ORPHA:35689
HP:0025031	Abnormality of the digestive system	8291	DYSF	ORPHA:268
HP:0025031	Abnormality of the digestive system	6536	SLC6A9	OMIM:617301
HP:0025031	Abnormality of the digestive system	101060691	NUTM2B-AS1	OMIM:618637
HP:0025031	Abnormality of the digestive system	84466	MEGF10	OMIM:614399
HP:0025031	Abnormality of the digestive system	84466	MEGF10	OMIM:620249
HP:0025031	Abnormality of the digestive system	3908	LAMA2	ORPHA:258
HP:0025031	Abnormality of the digestive system	8575	PRKRA	ORPHA:210571
HP:0025031	Abnormality of the digestive system	8575	PRKRA	OMIM:612067
HP:0025031	Abnormality of the digestive system	5663	PSEN1	OMIM:607822
HP:0025031	Abnormality of the digestive system	10939	AFG3L2	ORPHA:313772
HP:0025031	Abnormality of the digestive system	10939	AFG3L2	OMIM:614487
HP:0025031	Abnormality of the digestive system	83480	PUS3	ORPHA:488627
HP:0025031	Abnormality of the digestive system	10049	DNAJB6	ORPHA:34516
HP:0025031	Abnormality of the digestive system	10049	DNAJB6	OMIM:603511
HP:0025031	Abnormality of the digestive system	4620	MYH2	OMIM:605637
HP:0025031	Abnormality of the digestive system	10935	PRDX3	OMIM:619862
HP:0025031	Abnormality of the digestive system	80208	SPG11	ORPHA:2822
HP:0025031	Abnormality of the digestive system	80208	SPG11	ORPHA:300605
HP:0025031	Abnormality of the digestive system	80208	SPG11	OMIM:604360
HP:0025031	Abnormality of the digestive system	8622	PDE8B	ORPHA:228169
HP:0025031	Abnormality of the digestive system	2911	GRM1	OMIM:617691
HP:0025031	Abnormality of the digestive system	54902	TTC19	OMIM:615157
HP:0025031	Abnormality of the digestive system	391356	PTRHD1	OMIM:620747
HP:0025031	Abnormality of the digestive system	1180	CLCN1	OMIM:255700
HP:0025031	Abnormality of the digestive system	1180	CLCN1	ORPHA:614
HP:0025031	Abnormality of the digestive system	5860	QDPR	ORPHA:226
HP:0025031	Abnormality of the digestive system	5860	QDPR	OMIM:261630
HP:0025031	Abnormality of the digestive system	10342	TFG	ORPHA:90117
HP:0025031	Abnormality of the digestive system	9562	MINPP1	OMIM:619527
HP:0025031	Abnormality of the digestive system	1436	CSF1R	OMIM:221820
HP:0025031	Abnormality of the digestive system	4123	MAN2C1	OMIM:619775
HP:0025031	Abnormality of the digestive system	79977	GRHL2	OMIM:616029
HP:0025031	Abnormality of the digestive system	2055	CLN8	ORPHA:1947
HP:0025031	Abnormality of the digestive system	5837	PYGM	ORPHA:368
HP:0025031	Abnormality of the digestive system	2512	FTL	ORPHA:157846
HP:0025031	Abnormality of the digestive system	2512	FTL	OMIM:606159
HP:0025031	Abnormality of the digestive system	120	ADD3	OMIM:617008
HP:0025031	Abnormality of the digestive system	171546	SPTSSA	OMIM:620416
HP:0025031	Abnormality of the digestive system	171546	SPTSSA	OMIM:620417
HP:0025031	Abnormality of the digestive system	5081	PAX7	OMIM:618578
HP:0025031	Abnormality of the digestive system	353116	RILPL1	OMIM:619790
HP:0025031	Abnormality of the digestive system	53371	NUP54	OMIM:620427
HP:0025031	Abnormality of the digestive system	53371	NUP54	ORPHA:225154
HP:0025031	Abnormality of the digestive system	79912	PYROXD1	OMIM:617258
HP:0025031	Abnormality of the digestive system	79903	NAA60	OMIM:620786
HP:0025031	Abnormality of the digestive system	7084	TK2	ORPHA:254886
HP:0025031	Abnormality of the digestive system	7084	TK2	ORPHA:254875
HP:0025031	Abnormality of the digestive system	7084	TK2	OMIM:617069
HP:0025031	Abnormality of the digestive system	81790	RNF170	OMIM:619686
HP:0025031	Abnormality of the digestive system	84909	AOPEP	OMIM:619565
HP:0025031	Abnormality of the digestive system	25814	ATXN10	OMIM:603516
HP:0025031	Abnormality of the digestive system	387119	CEP85L	ORPHA:572013
HP:0025031	Abnormality of the digestive system	5980	REV3L	ORPHA:570
HP:0025031	Abnormality of the digestive system	23129	PLXND1	ORPHA:570
HP:0025031	Abnormality of the digestive system	65055	REEP1	ORPHA:101011
HP:0025031	Abnormality of the digestive system	65055	REEP1	OMIM:610250
HP:0025031	Abnormality of the digestive system	351	APP	ORPHA:324708
HP:0025031	Abnormality of the digestive system	4704	NDUFA9	OMIM:618247
HP:0025031	Abnormality of the digestive system	29978	UBQLN2	OMIM:300857
HP:0025031	Abnormality of the digestive system	29978	UBQLN2	ORPHA:803
HP:0025031	Abnormality of the digestive system	54834	GDAP2	OMIM:618369
HP:0025031	Abnormality of the digestive system	51704	GPRC5B	OMIM:620447
HP:0025031	Abnormality of the digestive system	361	AQP4	OMIM:620448
HP:0025031	Abnormality of the digestive system	51324	SPG21	ORPHA:101001
HP:0025031	Abnormality of the digestive system	51324	SPG21	OMIM:248900
HP:0025031	Abnormality of the digestive system	5631	PRPS1	OMIM:301835
HP:0025031	Abnormality of the digestive system	2705	GJB1	OMIM:302800
HP:0025031	Abnormality of the digestive system	1200	TPP1	OMIM:609270
HP:0025031	Abnormality of the digestive system	29967	LRP12	OMIM:620452
HP:0025031	Abnormality of the digestive system	29967	LRP12	OMIM:164310
HP:0025031	Abnormality of the digestive system	55697	VAC14	OMIM:617054
HP:0025031	Abnormality of the digestive system	100996717	NOTCH2NLC	OMIM:619473
HP:0025031	Abnormality of the digestive system	1893	ECM1	ORPHA:530
HP:0025031	Abnormality of the digestive system	23636	NUP62	ORPHA:225154
HP:0025031	Abnormality of the digestive system	23636	NUP62	OMIM:271930
HP:0025031	Abnormality of the digestive system	84081	NSRP1	OMIM:620001
HP:0025031	Abnormality of the digestive system	5216	PFN1	OMIM:614808
HP:0025031	Abnormality of the digestive system	5216	PFN1	ORPHA:803
HP:0025031	Abnormality of the digestive system	1678	TIMM8A	ORPHA:52368
HP:0025031	Abnormality of the digestive system	1678	TIMM8A	OMIM:304700
HP:0025031	Abnormality of the digestive system	64432	MRPS25	OMIM:619025
HP:0025031	Abnormality of the digestive system	84842	HPDL	OMIM:619027
HP:0025031	Abnormality of the digestive system	132001	TAMM41	OMIM:620139
HP:0025031	Abnormality of the digestive system	3156	HMGCR	OMIM:620375
HP:0025031	Abnormality of the digestive system	9782	MATR3	OMIM:606070
HP:0025031	Abnormality of the digestive system	9782	MATR3	ORPHA:600
HP:0025031	Abnormality of the digestive system	9782	MATR3	ORPHA:803
HP:0025031	Abnormality of the digestive system	400916	CHCHD10	OMIM:615911
HP:0025031	Abnormality of the digestive system	400916	CHCHD10	ORPHA:275872
HP:0025031	Abnormality of the digestive system	400916	CHCHD10	ORPHA:803
HP:0025031	Abnormality of the digestive system	400916	CHCHD10	ORPHA:276435
HP:0025031	Abnormality of the digestive system	8878	SQSTM1	ORPHA:275872
HP:0025031	Abnormality of the digestive system	8878	SQSTM1	ORPHA:803
HP:0025031	Abnormality of the digestive system	8878	SQSTM1	OMIM:616437
HP:0025031	Abnormality of the digestive system	23435	TARDBP	ORPHA:275872
HP:0025031	Abnormality of the digestive system	23435	TARDBP	ORPHA:803
HP:0025031	Abnormality of the digestive system	23435	TARDBP	OMIM:612069
HP:0025031	Abnormality of the digestive system	5111	PCNA	OMIM:615919
HP:0025031	Abnormality of the digestive system	79581	SLC52A2	OMIM:614707
HP:0025031	Abnormality of the digestive system	131377	KLHL40	ORPHA:171430
HP:0025031	Abnormality of the digestive system	131377	KLHL40	OMIM:615348
HP:0025031	Abnormality of the digestive system	271	AMPD2	OMIM:615809
HP:0025031	Abnormality of the digestive system	2483	FRG1	OMIM:158900
HP:0025031	Abnormality of the digestive system	729359	PLIN4	OMIM:601846
HP:0025031	Abnormality of the digestive system	64207	IRF2BPL	OMIM:618088
HP:0025031	Abnormality of the digestive system	146862	UNC45B	OMIM:619178
HP:0025031	Abnormality of the digestive system	4151	MB	OMIM:620286
HP:0025031	Abnormality of the digestive system	26278	SACS	ORPHA:98
HP:0025031	Abnormality of the digestive system	7156	TOP3A	OMIM:618098
HP:0025031	Abnormality of the digestive system	1641	DCX	ORPHA:2148
HP:0025031	Abnormality of the digestive system	1600	DAB1	OMIM:615945
HP:0025031	Abnormality of the digestive system	113278	SLC52A3	OMIM:211530
HP:0025031	Abnormality of the digestive system	113278	SLC52A3	OMIM:211500
HP:0025031	Abnormality of the digestive system	23533	PIK3R5	ORPHA:64753
HP:0025031	Abnormality of the digestive system	23064	SETX	ORPHA:64753
HP:0025031	Abnormality of the digestive system	23064	SETX	OMIM:606002
HP:0025031	Abnormality of the digestive system	146057	TTBK2	ORPHA:98767
HP:0025031	Abnormality of the digestive system	3748	KCNC3	ORPHA:98768
HP:0025031	Abnormality of the digestive system	80704	SLC19A3	OMIM:607483
HP:0025031	Abnormality of the digestive system	80025	PANK2	OMIM:234200
HP:0025031	Abnormality of the digestive system	80025	PANK2	ORPHA:216873
HP:0025031	Abnormality of the digestive system	80025	PANK2	ORPHA:216866
HP:0025031	Abnormality of the digestive system	724066	ATXN8	ORPHA:98760
HP:0025031	Abnormality of the digestive system	724066	ATXN8	OMIM:608768
HP:0025031	Abnormality of the digestive system	492	ATP2B3	OMIM:302500
HP:0025031	Abnormality of the digestive system	3251	HPRT1	OMIM:300322
HP:0025031	Abnormality of the digestive system	10280	SIGMAR1	ORPHA:300605
HP:0025031	Abnormality of the digestive system	10558	SPTLC1	ORPHA:300605
HP:0025031	Abnormality of the digestive system	255928	SYT14	ORPHA:284271
HP:0025031	Abnormality of the digestive system	255928	SYT14	OMIM:614229
HP:0025031	Abnormality of the digestive system	6310	ATXN1	ORPHA:98755
HP:0025031	Abnormality of the digestive system	6310	ATXN1	OMIM:164400
HP:0025031	Abnormality of the digestive system	10133	OPTN	OMIM:613435
HP:0025031	Abnormality of the digestive system	10133	OPTN	ORPHA:803
HP:0025031	Abnormality of the digestive system	91574	MTRFR	OMIM:613559
HP:0025031	Abnormality of the digestive system	85021	REPS1	OMIM:617916
HP:0025031	Abnormality of the digestive system	3752	KCND3	OMIM:607346
HP:0025031	Abnormality of the digestive system	25978	CHMP2B	ORPHA:803
HP:0025031	Abnormality of the digestive system	3178	HNRNPA1	ORPHA:803
HP:0025031	Abnormality of the digestive system	8148	TAF15	ORPHA:803
HP:0025031	Abnormality of the digestive system	5445	PON2	ORPHA:803
HP:0025031	Abnormality of the digestive system	9217	VAPB	ORPHA:803
HP:0025031	Abnormality of the digestive system	9217	VAPB	OMIM:608627
HP:0025031	Abnormality of the digestive system	5630	PRPH	ORPHA:803
HP:0025031	Abnormality of the digestive system	5630	PRPH	OMIM:105400
HP:0025031	Abnormality of the digestive system	55830	GLT8D1	ORPHA:803
HP:0025031	Abnormality of the digestive system	10891	PPARGC1A	ORPHA:803
HP:0025031	Abnormality of the digestive system	6647	SOD1	ORPHA:803
HP:0025031	Abnormality of the digestive system	6647	SOD1	OMIM:105400
HP:0025031	Abnormality of the digestive system	1639	DCTN1	ORPHA:803
HP:0025031	Abnormality of the digestive system	1639	DCTN1	OMIM:105400
HP:0025031	Abnormality of the digestive system	5444	PON1	ORPHA:803
HP:0025031	Abnormality of the digestive system	5446	PON3	ORPHA:803
HP:0025031	Abnormality of the digestive system	4744	NEFH	ORPHA:803
HP:0025031	Abnormality of the digestive system	4744	NEFH	OMIM:105400
HP:0025031	Abnormality of the digestive system	283	ANG	ORPHA:803
HP:0025031	Abnormality of the digestive system	1610	DAO	ORPHA:803
HP:0025031	Abnormality of the digestive system	2066	ERBB4	ORPHA:803
HP:0025031	Abnormality of the digestive system	311	ANXA11	ORPHA:803
HP:0025031	Abnormality of the digestive system	311	ANXA11	OMIM:617839
HP:0025031	Abnormality of the digestive system	23025	UNC13A	ORPHA:803
HP:0025031	Abnormality of the digestive system	899	CCNF	ORPHA:803
HP:0025031	Abnormality of the digestive system	6509	SLC1A4	ORPHA:447997
HP:0025031	Abnormality of the digestive system	2776	GNAQ	ORPHA:3205
HP:0025031	Abnormality of the digestive system	25793	FBXO7	ORPHA:171695
HP:0025031	Abnormality of the digestive system	10382	TUBB4A	OMIM:128101
HP:0025031	Abnormality of the digestive system	10382	TUBB4A	ORPHA:98805
HP:0025031	Abnormality of the digestive system	2982	GUCY1A1	OMIM:615750
HP:0025031	Abnormality of the digestive system	57704	GBA2	ORPHA:352641
HP:0025031	Abnormality of the digestive system	79644	SRD5A3	OMIM:612379
HP:0025031	Abnormality of the digestive system	25953	PNKD	OMIM:118800
HP:0025031	Abnormality of the digestive system	23317	DNAJC13	ORPHA:411602
HP:0025031	Abnormality of the digestive system	1981	EIF4G1	ORPHA:411602
HP:0025031	Abnormality of the digestive system	55737	VPS35	ORPHA:411602
HP:0025031	Abnormality of the digestive system	26058	GIGYF2	ORPHA:411602
HP:0025031	Abnormality of the digestive system	128989	TANGO2	ORPHA:480864
HP:0025031	Abnormality of the digestive system	5582	PRKCG	OMIM:605361
HP:0025031	Abnormality of the digestive system	3418	IDH2	ORPHA:163634
HP:0025031	Abnormality of the digestive system	59336	PRDM13	OMIM:619909
HP:0025031	Abnormality of the digestive system	79784	MYH14	ORPHA:397744
HP:0025031	Abnormality of the digestive system	84617	TUBB6	OMIM:617732
HP:0025031	Abnormality of the digestive system	2670	GFAP	ORPHA:363722
HP:0025031	Abnormality of the digestive system	2670	GFAP	ORPHA:363717
HP:0025031	Abnormality of the digestive system	122553	TRAPPC6B	OMIM:617862
HP:0025031	Abnormality of the digestive system	8292	COLQ	ORPHA:98915
HP:0025031	Abnormality of the digestive system	8292	COLQ	OMIM:603034
HP:0025031	Abnormality of the digestive system	8913	CACNA1G	ORPHA:458803
HP:0025031	Abnormality of the digestive system	8913	CACNA1G	OMIM:616795
HP:0025031	Abnormality of the digestive system	22943	DKK1	ORPHA:268882
HP:0025031	Abnormality of the digestive system	7515	XRCC1	OMIM:617633
HP:0025031	Abnormality of the digestive system	4359	MPZ	OMIM:607736
HP:0025031	Abnormality of the digestive system	4747	NEFL	OMIM:607734
HP:0025031	Abnormality of the digestive system	79932	KIAA0319L	ORPHA:220402
HP:0025031	Abnormality of the digestive system	64072	CDH23	ORPHA:2965
HP:0025031	Abnormality of the digestive system	64072	CDH23	ORPHA:91347
HP:0025031	Abnormality of the digestive system	3141	HLCS	ORPHA:79242
HP:0025031	Abnormality of the digestive system	330	BIRC3	ORPHA:52417
HP:0025031	Abnormality of the digestive system	10892	MALT1	ORPHA:52417
HP:0025031	Abnormality of the digestive system	27086	FOXP1	ORPHA:52417
HP:0025031	Abnormality of the digestive system	8915	BCL10	ORPHA:52417
HP:0025031	Abnormality of the digestive system	4771	NF2	ORPHA:2495
HP:0025031	Abnormality of the digestive system	51684	SUFU	ORPHA:2495
HP:0025031	Abnormality of the digestive system	6605	SMARCE1	ORPHA:2495
HP:0025031	Abnormality of the digestive system	6049	RNF6	ORPHA:99977
HP:0025031	Abnormality of the digestive system	51741	WWOX	ORPHA:99977
HP:0025031	Abnormality of the digestive system	9940	DLEC1	ORPHA:99977
HP:0025031	Abnormality of the digestive system	554	AVPR2	ORPHA:223
HP:0025031	Abnormality of the digestive system	359	AQP2	ORPHA:223
HP:0025031	Abnormality of the digestive system	10079	ATP9A	OMIM:620242
HP:0025031	Abnormality of the digestive system	7187	TRAF3	ORPHA:1930
HP:0025031	Abnormality of the digestive system	81622	UNC93B1	ORPHA:1930
HP:0025031	Abnormality of the digestive system	148022	TICAM1	ORPHA:1930
HP:0025031	Abnormality of the digestive system	7098	TLR3	ORPHA:1930
HP:0025031	Abnormality of the digestive system	4878	NPPA	ORPHA:1344
HP:0025031	Abnormality of the digestive system	2034	EPAS1	ORPHA:276621
HP:0025031	Abnormality of the digestive system	776	CACNA1D	ORPHA:369929
HP:0025031	Abnormality of the digestive system	1743	DLST	ORPHA:29072
HP:0025031	Abnormality of the digestive system	8402	SLC25A11	ORPHA:29072
HP:0025031	Abnormality of the digestive system	54949	SDHAF2	ORPHA:29072
HP:0025031	Abnormality of the digestive system	55654	TMEM127	ORPHA:29072
HP:0025031	Abnormality of the digestive system	1181	CLCN2	ORPHA:404
HP:0025031	Abnormality of the digestive system	1584	CYP11B1	ORPHA:403
HP:0025031	Abnormality of the digestive system	3762	KCNJ5	ORPHA:251274
HP:0025031	Abnormality of the digestive system	6535	SLC6A8	OMIM:300352
HP:0025031	Abnormality of the digestive system	6535	SLC6A8	ORPHA:52503
HP:0025031	Abnormality of the digestive system	9860	LRIG2	OMIM:615112
HP:0025031	Abnormality of the digestive system	9860	LRIG2	ORPHA:2704
HP:0025031	Abnormality of the digestive system	55823	VPS11	OMIM:616683
HP:0025031	Abnormality of the digestive system	55823	VPS11	ORPHA:466934
HP:0025031	Abnormality of the digestive system	2132	EXT2	OMIM:616682
HP:0025031	Abnormality of the digestive system	2132	EXT2	ORPHA:466926
HP:0025031	Abnormality of the digestive system	10973	ASCC3	OMIM:620700
HP:0025031	Abnormality of the digestive system	81857	MED25	OMIM:616449
HP:0025031	Abnormality of the digestive system	81857	MED25	ORPHA:464738
HP:0025031	Abnormality of the digestive system	55777	MBD5	ORPHA:228402
HP:0025031	Abnormality of the digestive system	55777	MBD5	OMIM:156200
HP:0025031	Abnormality of the digestive system	5457	POU4F1	ORPHA:314647
HP:0025031	Abnormality of the digestive system	23261	CAMTA1	ORPHA:314647
HP:0025031	Abnormality of the digestive system	5447	POR	ORPHA:95699
HP:0025031	Abnormality of the digestive system	6531	SLC6A3	ORPHA:238455
HP:0025031	Abnormality of the digestive system	6531	SLC6A3	OMIM:613135
HP:0025031	Abnormality of the digestive system	80232	WDR26	ORPHA:513456
HP:0025031	Abnormality of the digestive system	80232	WDR26	OMIM:617616
HP:0025031	Abnormality of the digestive system	116931	MED12L	OMIM:618872
HP:0025031	Abnormality of the digestive system	249	ALPL	OMIM:241500
HP:0025031	Abnormality of the digestive system	65993	MRPS34	OMIM:617664
HP:0025031	Abnormality of the digestive system	89910	UBE3B	OMIM:244450
HP:0025031	Abnormality of the digestive system	6812	STXBP1	ORPHA:495818
HP:0025031	Abnormality of the digestive system	2314	FLII	ORPHA:819
HP:0025031	Abnormality of the digestive system	23096	IQSEC2	ORPHA:819
HP:0025031	Abnormality of the digestive system	10743	RAI1	ORPHA:819
HP:0025031	Abnormality of the digestive system	10743	RAI1	OMIM:182290
HP:0025031	Abnormality of the digestive system	10522	DEAF1	ORPHA:819
HP:0025031	Abnormality of the digestive system	10522	DEAF1	ORPHA:468620
HP:0025031	Abnormality of the digestive system	3508	IGHMBP2	OMIM:604320
HP:0025031	Abnormality of the digestive system	10978	CLP1	OMIM:615803
HP:0025031	Abnormality of the digestive system	55650	PIGV	OMIM:239300
HP:0025031	Abnormality of the digestive system	8029	CUBN	ORPHA:35858
HP:0025031	Abnormality of the digestive system	1896	EDA	OMIM:305100
HP:0025031	Abnormality of the digestive system	2590	GALNT2	OMIM:618885
HP:0025031	Abnormality of the digestive system	80204	FBXO11	OMIM:618089
HP:0025031	Abnormality of the digestive system	5119	CHMP1A	OMIM:614961
HP:0025031	Abnormality of the digestive system	7555	CNBP	ORPHA:606
HP:0025031	Abnormality of the digestive system	8398	PLA2G6	ORPHA:35069
HP:0025031	Abnormality of the digestive system	5442	POLRMT	OMIM:619743
HP:0025031	Abnormality of the digestive system	57178	ZMIZ1	OMIM:618659
HP:0025031	Abnormality of the digestive system	60495	HPSE2	ORPHA:2704
HP:0025031	Abnormality of the digestive system	60495	HPSE2	OMIM:236730
HP:0025031	Abnormality of the digestive system	27235	COQ2	ORPHA:98933
HP:0025031	Abnormality of the digestive system	27235	COQ2	ORPHA:227510
HP:0025031	Abnormality of the digestive system	8493	PPM1D	OMIM:617450
HP:0025031	Abnormality of the digestive system	23259	DDHD2	OMIM:615033
HP:0025031	Abnormality of the digestive system	285175	UNC80	OMIM:616801
HP:0025031	Abnormality of the digestive system	285175	UNC80	ORPHA:371364
HP:0025031	Abnormality of the digestive system	4191	MDH2	OMIM:617339
HP:0025031	Abnormality of the digestive system	7337	UBE3A	OMIM:105830
HP:0025031	Abnormality of the digestive system	7337	UBE3A	ORPHA:98794
HP:0025031	Abnormality of the digestive system	100134444	KCNJ18	ORPHA:79102
HP:0025031	Abnormality of the digestive system	2556	GABRA3	ORPHA:79102
HP:0025031	Abnormality of the digestive system	779	CACNA1S	ORPHA:79102
HP:0025031	Abnormality of the digestive system	3170	FOXA2	ORPHA:95494
HP:0025031	Abnormality of the digestive system	5015	OTX2	ORPHA:95494
HP:0025031	Abnormality of the digestive system	5015	OTX2	ORPHA:3157
HP:0025031	Abnormality of the digestive system	6942	TCF20	OMIM:618430
HP:0025031	Abnormality of the digestive system	51322	WAC	ORPHA:284169
HP:0025031	Abnormality of the digestive system	51322	WAC	OMIM:616708
HP:0025031	Abnormality of the digestive system	51322	WAC	ORPHA:466950
HP:0025031	Abnormality of the digestive system	2678	GGT1	OMIM:231950
HP:0025031	Abnormality of the digestive system	84978	FRMD5	OMIM:620094
HP:0025031	Abnormality of the digestive system	55023	PHIP	ORPHA:589905
HP:0025031	Abnormality of the digestive system	8621	CDK13	OMIM:617360
HP:0025031	Abnormality of the digestive system	51142	CHCHD2	OMIM:616710
HP:0025031	Abnormality of the digestive system	57165	GJC2	OMIM:613206
HP:0025031	Abnormality of the digestive system	196528	ARID2	OMIM:617808
HP:0025031	Abnormality of the digestive system	4001	LMNB1	ORPHA:99027
HP:0025031	Abnormality of the digestive system	4001	LMNB1	OMIM:169500
HP:0025031	Abnormality of the digestive system	6658	SOX3	ORPHA:90695
HP:0025031	Abnormality of the digestive system	6658	SOX3	ORPHA:3157
HP:0025031	Abnormality of the digestive system	1859	DYRK1A	ORPHA:268261
HP:0025031	Abnormality of the digestive system	2290	FOXG1	OMIM:613454
HP:0025031	Abnormality of the digestive system	9256	TSPOAP1	ORPHA:101150
HP:0025031	Abnormality of the digestive system	7054	TH	ORPHA:101150
HP:0025031	Abnormality of the digestive system	23028	KDM1A	OMIM:616728
HP:0025031	Abnormality of the digestive system	2258	FGF13	OMIM:301058
HP:0025031	Abnormality of the digestive system	7200	TRH	OMIM:275120
HP:0025031	Abnormality of the digestive system	4297	KMT2A	OMIM:605130
HP:0025031	Abnormality of the digestive system	1725	DHPS	OMIM:618480
HP:0025031	Abnormality of the digestive system	166378	AFG2A	ORPHA:457351
HP:0025031	Abnormality of the digestive system	6336	SCN10A	ORPHA:46348
HP:0025031	Abnormality of the digestive system	9378	NRXN1	OMIM:614325
HP:0025031	Abnormality of the digestive system	7703	PCGF2	OMIM:618371
HP:0025031	Abnormality of the digestive system	23111	SPART	ORPHA:101000
HP:0025031	Abnormality of the digestive system	6907	TBL1X	OMIM:301033
HP:0025031	Abnormality of the digestive system	54681	P4HTM	OMIM:618493
HP:0025031	Abnormality of the digestive system	1822	ATN1	OMIM:618494
HP:0025031	Abnormality of the digestive system	7067	THRA	OMIM:614450
HP:0025031	Abnormality of the digestive system	1974	EIF4A2	OMIM:620455
HP:0025031	Abnormality of the digestive system	6874	TAF4	OMIM:620450
HP:0025031	Abnormality of the digestive system	5977	DPF2	OMIM:618027
HP:0025031	Abnormality of the digestive system	2887	GRB10	ORPHA:96182
HP:0025031	Abnormality of the digestive system	2222	FDFT1	OMIM:618156
HP:0025031	Abnormality of the digestive system	6872	TAF1	OMIM:300966
HP:0025031	Abnormality of the digestive system	57688	ZSWIM6	OMIM:617865
HP:0025031	Abnormality of the digestive system	55164	SHQ1	OMIM:619922
HP:0025031	Abnormality of the digestive system	1759	DNM1	OMIM:620352
HP:0025031	Abnormality of the digestive system	23387	SIK3	OMIM:618162
HP:0025031	Abnormality of the digestive system	1650	DDOST	ORPHA:300536
HP:0025031	Abnormality of the digestive system	6904	TBCD	OMIM:617193
HP:0025031	Abnormality of the digestive system	1512	CTSH	ORPHA:2073
HP:0025031	Abnormality of the digestive system	5032	P2RY11	ORPHA:2073
HP:0025031	Abnormality of the digestive system	4340	MOG	ORPHA:2073
HP:0025031	Abnormality of the digestive system	3060	HCRT	ORPHA:2073
HP:0025031	Abnormality of the digestive system	22891	ZNF365	ORPHA:2073
HP:0025031	Abnormality of the digestive system	7292	TNFSF4	ORPHA:2073
HP:0025031	Abnormality of the digestive system	10479	SLC9A6	ORPHA:85278
HP:0025031	Abnormality of the digestive system	738	VPS51	OMIM:618606
HP:0025031	Abnormality of the digestive system	9757	KMT2B	OMIM:619934
HP:0025031	Abnormality of the digestive system	6340	SCNN1G	ORPHA:526
HP:0025031	Abnormality of the digestive system	6338	SCNN1B	ORPHA:526
HP:0025031	Abnormality of the digestive system	9203	ZMYM3	OMIM:301111
HP:0025031	Abnormality of the digestive system	4287	ATXN3	OMIM:168600
HP:0025031	Abnormality of the digestive system	126	ADH1C	OMIM:168600
HP:0025031	Abnormality of the digestive system	4137	MAPT	OMIM:168600
HP:0025031	Abnormality of the digestive system	4576	MT-TT	OMIM:168600
HP:0025031	Abnormality of the digestive system	9627	SNCAIP	OMIM:168600
HP:0025031	Abnormality of the digestive system	6908	TBP	OMIM:168600
HP:0025031	Abnormality of the digestive system	4929	NR4A2	OMIM:168600
HP:0025031	Abnormality of the digestive system	6311	ATXN2	OMIM:168600
HP:0025031	Abnormality of the digestive system	6315	ATXN8OS	OMIM:168600
HP:0025031	Abnormality of the digestive system	55294	FBXW7	OMIM:620012
HP:0025031	Abnormality of the digestive system	128674	PROKR2	ORPHA:3157
HP:0025031	Abnormality of the digestive system	6657	SOX2	ORPHA:3157
HP:0025031	Abnormality of the digestive system	9915	ARNT2	ORPHA:3157
HP:0025031	Abnormality of the digestive system	4897	NRCAM	OMIM:619833
HP:0025031	Abnormality of the digestive system	7259	TSPYL1	OMIM:608800
HP:0025031	Abnormality of the digestive system	7259	TSPYL1	ORPHA:168593
HP:0025031	Abnormality of the digestive system	3020	H3-3A	OMIM:619720
HP:0025031	Abnormality of the digestive system	3021	H3-3B	OMIM:619721
HP:0025031	Abnormality of the digestive system	7020	TFAP2A	OMIM:113620
HP:0025031	Abnormality of the digestive system	10484	SEC23A	OMIM:607812
HP:0025031	Abnormality of the digestive system	9895	TECPR2	OMIM:615031
HP:0025031	Abnormality of the digestive system	3786	KCNQ3	ORPHA:1949
HP:0025031	Abnormality of the digestive system	9338	TCEAL1	OMIM:301094
HP:0025031	Abnormality of the digestive system	54941	RNF125	OMIM:616260
HP:0025031	Abnormality of the digestive system	58497	PRUNE1	ORPHA:544469
HP:0025031	Abnormality of the digestive system	9900	SV2A	OMIM:620772
HP:0025031	Abnormality of the digestive system	6477	SIAH1	OMIM:619314
HP:0025031	Abnormality of the digestive system	64801	ARV1	OMIM:617020
HP:0025031	Abnormality of the digestive system	51079	NDUFA13	OMIM:618249
HP:0025031	Abnormality of the digestive system	3265	HRAS	ORPHA:3071
HP:0025031	Abnormality of the digestive system	54809	SAMD9	OMIM:617053
HP:0025031	Abnormality of the digestive system	10681	GNB5	OMIM:617173
HP:0025031	Abnormality of the digestive system	10681	GNB5	OMIM:617182
HP:0025031	Abnormality of the digestive system	10681	GNB5	ORPHA:542306
HP:0025031	Abnormality of the digestive system	2077	ERF	OMIM:617180
HP:0025031	Abnormality of the digestive system	5058	PAK1	OMIM:618158
HP:0025031	Abnormality of the digestive system	80267	EDEM3	OMIM:619493
HP:0025031	Abnormality of the digestive system	23040	MYT1L	ORPHA:647799
HP:0025031	Abnormality of the digestive system	283450	HECTD4	OMIM:620250
HP:0025031	Abnormality of the digestive system	8506	CNTNAP1	OMIM:618186
HP:0025031	Abnormality of the digestive system	429	ASCL1	ORPHA:99803
HP:0025031	Abnormality of the digestive system	3899	AFF3	OMIM:619297
HP:0025031	Abnormality of the digestive system	1136	CHRNA3	OMIM:191800
HP:0025031	Abnormality of the digestive system	653509	SFTPA1	ORPHA:2032
HP:0025031	Abnormality of the digestive system	21	ABCA3	ORPHA:2032
HP:0025031	Abnormality of the digestive system	1832	DSP	ORPHA:2032
HP:0025031	Abnormality of the digestive system	10144	FAM13A	ORPHA:2032
HP:0025031	Abnormality of the digestive system	23250	ATP11A	ORPHA:2032
HP:0025031	Abnormality of the digestive system	132158	GLYCTK	OMIM:220120
HP:0025031	Abnormality of the digestive system	25923	ATL3	ORPHA:36386
HP:0025031	Abnormality of the digestive system	9517	SPTLC2	ORPHA:36386
HP:0025031	Abnormality of the digestive system	51062	ATL1	ORPHA:36386
HP:0025031	Abnormality of the digestive system	375	ARF1	ORPHA:98892
HP:0025031	Abnormality of the digestive system	4131	MAP1B	ORPHA:98892
HP:0025031	Abnormality of the digestive system	160418	TMTC3	ORPHA:98892
HP:0025031	Abnormality of the digestive system	10564	ARFGEF2	ORPHA:98892
HP:0025031	Abnormality of the digestive system	55780	ERMARD	ORPHA:98892
HP:0025031	Abnormality of the digestive system	56006	SMG9	OMIM:616920
HP:0025031	Abnormality of the digestive system	23137	SMC5	OMIM:620185
HP:0025031	Abnormality of the digestive system	65125	WNK1	OMIM:201300
HP:0025031	Abnormality of the digestive system	54463	RETREG1	OMIM:201300
HP:0025031	Abnormality of the digestive system	547	KIF1A	OMIM:201300
HP:0025031	Abnormality of the digestive system	11151	CORO1A	OMIM:615401
HP:0025031	Abnormality of the digestive system	6709	SPTAN1	OMIM:613477
HP:0025031	Abnormality of the digestive system	84693	MCEE	OMIM:251120
HP:0025031	Abnormality of the digestive system	7874	USP7	ORPHA:500055
HP:0025031	Abnormality of the digestive system	8405	SPOP	OMIM:618829
HP:0025031	Abnormality of the digestive system	29928	TIMM22	OMIM:618851
HP:0025031	Abnormality of the digestive system	8803	SUCLA2	OMIM:612073
HP:0025031	Abnormality of the digestive system	64419	MTMR14	ORPHA:169189
HP:0025031	Abnormality of the digestive system	4618	MYF6	ORPHA:169189
HP:0025031	Abnormality of the digestive system	1785	DNM2	ORPHA:169189
HP:0025031	Abnormality of the digestive system	23556	PIGN	ORPHA:2059
HP:0025031	Abnormality of the digestive system	23556	PIGN	ORPHA:280633
HP:0025031	Abnormality of the digestive system	23556	PIGN	OMIM:614080
HP:0025031	Abnormality of the digestive system	6650	CAPN15	OMIM:619318
HP:0025031	Abnormality of the digestive system	253738	EBF3	ORPHA:96148
HP:0025031	Abnormality of the digestive system	57167	SALL4	OMIM:607323
HP:0025031	Abnormality of the digestive system	57167	SALL4	ORPHA:2307
HP:0025031	Abnormality of the digestive system	57167	SALL4	OMIM:147750
HP:0025031	Abnormality of the digestive system	340419	RSPO2	ORPHA:3301
HP:0025031	Abnormality of the digestive system	9496	TBX4	ORPHA:3301
HP:0025031	Abnormality of the digestive system	81839	VANGL1	ORPHA:3027
HP:0025031	Abnormality of the digestive system	80199	FUZ	ORPHA:3027
HP:0025031	Abnormality of the digestive system	10084	PQBP1	ORPHA:93950
HP:0025031	Abnormality of the digestive system	10084	PQBP1	OMIM:309500
HP:0025031	Abnormality of the digestive system	267010	RNU12	OMIM:603116
HP:0025031	Abnormality of the digestive system	267010	RNU12	ORPHA:85199
HP:0025031	Abnormality of the digestive system	3313	HSPA9	OMIM:616854
HP:0025031	Abnormality of the digestive system	999	CDH1	OMIM:119580
HP:0025031	Abnormality of the digestive system	999	CDH1	ORPHA:1997
HP:0025031	Abnormality of the digestive system	29954	POMT2	OMIM:236670
HP:0025031	Abnormality of the digestive system	79147	FKRP	OMIM:236670
HP:0025031	Abnormality of the digestive system	2218	FKTN	OMIM:236670
HP:0025031	Abnormality of the digestive system	10585	POMT1	OMIM:236670
HP:0025031	Abnormality of the digestive system	9215	LARGE1	OMIM:236670
HP:0025031	Abnormality of the digestive system	1500	CTNND1	ORPHA:1997
HP:0025031	Abnormality of the digestive system	83871	RAB34	OMIM:620718
HP:0025031	Abnormality of the digestive system	23522	KAT6B	OMIM:606170
HP:0025031	Abnormality of the digestive system	5308	PITX2	OMIM:180500
HP:0025031	Abnormality of the digestive system	25942	SIN3A	ORPHA:94065
HP:0025031	Abnormality of the digestive system	23065	EMC1	OMIM:616875
HP:0025031	Abnormality of the digestive system	23065	EMC1	ORPHA:480898
HP:0025031	Abnormality of the digestive system	10046	MAMLD1	ORPHA:95706
HP:0025031	Abnormality of the digestive system	367	AR	ORPHA:95706
HP:0025031	Abnormality of the digestive system	11193	WBP4	OMIM:620852
HP:0025031	Abnormality of the digestive system	8642	DCHS1	OMIM:601390
HP:0025031	Abnormality of the digestive system	6862	TBXT	OMIM:615709
HP:0025031	Abnormality of the digestive system	55773	TBC1D23	OMIM:617695
HP:0025031	Abnormality of the digestive system	92002	CCNQ	OMIM:300707
HP:0025031	Abnormality of the digestive system	92002	CCNQ	ORPHA:140952
HP:0025031	Abnormality of the digestive system	84720	PIGO	OMIM:614749
HP:0025031	Abnormality of the digestive system	79228	THOC6	ORPHA:363444
HP:0025031	Abnormality of the digestive system	8318	CDC45	OMIM:617063
HP:0025031	Abnormality of the digestive system	51339	DACT1	OMIM:617466
HP:0025031	Abnormality of the digestive system	51339	DACT1	ORPHA:857
HP:0025031	Abnormality of the digestive system	51339	DACT1	ORPHA:63260
HP:0025031	Abnormality of the digestive system	79803	HPS6	OMIM:614075
HP:0025031	Abnormality of the digestive system	23112	TNRC6B	OMIM:619243
HP:0025031	Abnormality of the digestive system	57466	SCAF4	OMIM:620511
HP:0025031	Abnormality of the digestive system	7291	TWIST1	OMIM:617746
HP:0025031	Abnormality of the digestive system	139285	AMER1	OMIM:300373
HP:0025031	Abnormality of the digestive system	9897	WASHC5	OMIM:220210
HP:0025031	Abnormality of the digestive system	9897	WASHC5	ORPHA:7
HP:0025031	Abnormality of the digestive system	7476	WNT7A	ORPHA:2879
HP:0025031	Abnormality of the digestive system	25836	NIPBL	OMIM:122470
HP:0025031	Abnormality of the digestive system	1807	DPYS	OMIM:222748
HP:0025031	Abnormality of the digestive system	26123	TCTN3	ORPHA:2753
HP:0025031	Abnormality of the digestive system	28952	CCDC22	ORPHA:7
HP:0025031	Abnormality of the digestive system	57020	VPS35L	ORPHA:7
HP:0025031	Abnormality of the digestive system	56896	DPYSL5	ORPHA:7
HP:0025031	Abnormality of the digestive system	9573	GDF3	ORPHA:2345
HP:0025031	Abnormality of the digestive system	392255	GDF6	ORPHA:2345
HP:0025031	Abnormality of the digestive system	4222	MEOX1	ORPHA:2345
HP:0025031	Abnormality of the digestive system	27152	INTU	OMIM:617925
HP:0025031	Abnormality of the digestive system	7518	XRCC4	ORPHA:99812
HP:0025031	Abnormality of the digestive system	3981	LIG4	ORPHA:99812
HP:0025031	Abnormality of the digestive system	3981	LIG4	ORPHA:235
HP:0025031	Abnormality of the digestive system	80270	HSD3B7	ORPHA:79301
HP:0025031	Abnormality of the digestive system	2316	FLNA	ORPHA:99811
HP:0025031	Abnormality of the digestive system	4072	EPCAM	ORPHA:144
HP:0025031	Abnormality of the digestive system	4072	EPCAM	ORPHA:92050
HP:0025031	Abnormality of the digestive system	4292	MLH1	ORPHA:144
HP:0025031	Abnormality of the digestive system	5395	PMS2	ORPHA:144
HP:0025031	Abnormality of the digestive system	7048	TGFBR2	ORPHA:144
HP:0025031	Abnormality of the digestive system	2956	MSH6	ORPHA:144
HP:0025031	Abnormality of the digestive system	5378	PMS1	ORPHA:144
HP:0025031	Abnormality of the digestive system	4436	MSH2	ORPHA:144
HP:0025031	Abnormality of the digestive system	55630	SLC39A4	ORPHA:37
HP:0025031	Abnormality of the digestive system	6514	SLC2A2	OMIM:227810
HP:0025031	Abnormality of the digestive system	50674	NEUROG3	ORPHA:83620
HP:0025031	Abnormality of the digestive system	64218	SEMA4A	ORPHA:440437
HP:0025031	Abnormality of the digestive system	5426	POLE	ORPHA:440437
HP:0025031	Abnormality of the digestive system	6224	RPS20	ORPHA:440437
HP:0025031	Abnormality of the digestive system	4595	MUTYH	ORPHA:440437
HP:0025031	Abnormality of the digestive system	5424	POLD1	ORPHA:440437
HP:0025031	Abnormality of the digestive system	10525	HYOU1	OMIM:233600
HP:0025031	Abnormality of the digestive system	8456	FOXN1	ORPHA:83471
HP:0025031	Abnormality of the digestive system	4952	OCRL	ORPHA:534
HP:0025031	Abnormality of the digestive system	4688	NCF2	ORPHA:379
HP:0025031	Abnormality of the digestive system	1535	CYBA	ORPHA:379
HP:0025031	Abnormality of the digestive system	4689	NCF4	ORPHA:379
HP:0025031	Abnormality of the digestive system	653361	NCF1	ORPHA:379
HP:0025031	Abnormality of the digestive system	653361	NCF1	ORPHA:904
HP:0025031	Abnormality of the digestive system	79415	CYBC1	ORPHA:379
HP:0025031	Abnormality of the digestive system	170302	ARX	ORPHA:452
HP:0025031	Abnormality of the digestive system	105371045	PERCC1	ORPHA:92050
HP:0025031	Abnormality of the digestive system	9663	LPIN2	ORPHA:77297
HP:0025031	Abnormality of the digestive system	2717	GLA	ORPHA:324
HP:0025031	Abnormality of the digestive system	3248	HPGD	ORPHA:2796
HP:0025031	Abnormality of the digestive system	6578	SLCO2A1	ORPHA:2796
HP:0025031	Abnormality of the digestive system	2068	ERCC2	OMIM:601675
HP:0025031	Abnormality of the digestive system	29128	UHRF1	ORPHA:2268
HP:0025031	Abnormality of the digestive system	3070	HELLS	ORPHA:2268
HP:0025031	Abnormality of the digestive system	1789	DNMT3B	ORPHA:2268
HP:0025031	Abnormality of the digestive system	1789	DNMT3B	OMIM:242860
HP:0025031	Abnormality of the digestive system	83879	CDCA7	ORPHA:2268
HP:0025031	Abnormality of the digestive system	9841	ZBTB24	ORPHA:2268
HP:0025031	Abnormality of the digestive system	113235	SLC46A1	OMIM:229050
HP:0025031	Abnormality of the digestive system	175	AGA	ORPHA:93
HP:0025031	Abnormality of the digestive system	54888	NSUN2	ORPHA:235
HP:0025031	Abnormality of the digestive system	4261	CIITA	OMIM:209920
HP:0025031	Abnormality of the digestive system	7461	CLIP2	ORPHA:904
HP:0025031	Abnormality of the digestive system	84277	DNAJC30	ORPHA:904
HP:0025031	Abnormality of the digestive system	8468	FKBP6	ORPHA:904
HP:0025031	Abnormality of the digestive system	5982	RFC2	ORPHA:904
HP:0025031	Abnormality of the digestive system	2969	GTF2I	ORPHA:904
HP:0025031	Abnormality of the digestive system	3984	LIMK1	ORPHA:904
HP:0025031	Abnormality of the digestive system	9569	GTF2IRD1	ORPHA:904
HP:0025031	Abnormality of the digestive system	155382	VPS37D	ORPHA:904
HP:0025031	Abnormality of the digestive system	155368	METTL27	ORPHA:904
HP:0025031	Abnormality of the digestive system	114049	BUD23	ORPHA:904
HP:0025031	Abnormality of the digestive system	7458	EIF4H	ORPHA:904
HP:0025031	Abnormality of the digestive system	84163	GTF2IRD2	ORPHA:904
HP:0025031	Abnormality of the digestive system	26608	TBL2	ORPHA:904
HP:0025031	Abnormality of the digestive system	135886	TMEM270	ORPHA:904
HP:0025031	Abnormality of the digestive system	9031	BAZ1B	ORPHA:904
HP:0025031	Abnormality of the digestive system	2006	ELN	ORPHA:904
HP:0025031	Abnormality of the digestive system	6523	SLC5A1	OMIM:606824
HP:0025031	Abnormality of the digestive system	8567	MADD	OMIM:619004
HP:0025031	Abnormality of the digestive system	6288	SAA1	ORPHA:85445
HP:0025031	Abnormality of the digestive system	57570	TRMT5	OMIM:616539
HP:0025031	Abnormality of the digestive system	3662	IRF4	ORPHA:3452
HP:0025031	Abnormality of the digestive system	695	BTK	ORPHA:47
HP:0025031	Abnormality of the digestive system	5122	PCSK1	OMIM:600955
HP:0025031	Abnormality of the digestive system	326	AIRE	OMIM:240300
HP:0025031	Abnormality of the digestive system	1758	DMP1	ORPHA:289176
HP:0025031	Abnormality of the digestive system	340024	SLC6A19	ORPHA:2116
HP:0025031	Abnormality of the digestive system	57393	CLTRN	ORPHA:2116
HP:0025031	Abnormality of the digestive system	50943	FOXP3	ORPHA:37042
HP:0025031	Abnormality of the digestive system	11181	TREH	ORPHA:103909
HP:0025031	Abnormality of the digestive system	6476	SI	OMIM:222900
HP:0025031	Abnormality of the digestive system	4615	MYD88	ORPHA:33226
HP:0025031	Abnormality of the digestive system	80169	CTC1	ORPHA:1775
HP:0025031	Abnormality of the digestive system	26277	TINF2	ORPHA:1775
HP:0025031	Abnormality of the digestive system	55651	NHP2	ORPHA:1775
HP:0025031	Abnormality of the digestive system	79650	USB1	ORPHA:1775
HP:0025031	Abnormality of the digestive system	55135	WRAP53	ORPHA:1775
HP:0025031	Abnormality of the digestive system	51750	RTEL1	ORPHA:1775
HP:0025031	Abnormality of the digestive system	4869	NPM1	ORPHA:1775
HP:0025031	Abnormality of the digestive system	7012	TERC	ORPHA:1775
HP:0025031	Abnormality of the digestive system	55505	NOP10	ORPHA:1775
HP:0025031	Abnormality of the digestive system	5073	PARN	ORPHA:1775
HP:0025031	Abnormality of the digestive system	7015	TERT	ORPHA:1775
HP:0025031	Abnormality of the digestive system	1736	DKC1	ORPHA:1775
HP:0025031	Abnormality of the digestive system	7298	TYMS	ORPHA:1775
HP:0025031	Abnormality of the digestive system	55315	SLC29A3	ORPHA:168569
HP:0025031	Abnormality of the digestive system	1235	CCR6	ORPHA:220393
HP:0025031	Abnormality of the digestive system	1490	CCN2	ORPHA:220393
HP:0025031	Abnormality of the digestive system	857	CAV1	ORPHA:220393
HP:0025031	Abnormality of the digestive system	1828	DSG1	OMIM:615508
HP:0025031	Abnormality of the digestive system	204	AK2	ORPHA:33355
HP:0025031	Abnormality of the digestive system	6929	TCF3	ORPHA:33110
HP:0025031	Abnormality of the digestive system	7922	SLC39A7	ORPHA:33110
HP:0025031	Abnormality of the digestive system	973	CD79A	ORPHA:33110
HP:0025031	Abnormality of the digestive system	974	CD79B	ORPHA:33110
HP:0025031	Abnormality of the digestive system	6688	SPI1	ORPHA:33110
HP:0025031	Abnormality of the digestive system	3543	IGLL1	ORPHA:33110
HP:0025031	Abnormality of the digestive system	3507	IGHM	ORPHA:33110
HP:0025031	Abnormality of the digestive system	29760	BLNK	ORPHA:33110
HP:0025031	Abnormality of the digestive system	5295	PIK3R1	ORPHA:33110
HP:0025031	Abnormality of the digestive system	56262	LRRC8A	ORPHA:33110
HP:0025031	Abnormality of the digestive system	8085	KMT2D	OMIM:147920
HP:0025031	Abnormality of the digestive system	7403	KDM6A	OMIM:147920
HP:0025031	Abnormality of the digestive system	149233	IL23R	ORPHA:117
HP:0025031	Abnormality of the digestive system	3586	IL10	ORPHA:117
HP:0025031	Abnormality of the digestive system	1230	CCR1	ORPHA:117
HP:0025031	Abnormality of the digestive system	355	FAS	ORPHA:117
HP:0025031	Abnormality of the digestive system	101928376	IL12A-AS1	ORPHA:117
HP:0025031	Abnormality of the digestive system	3106	HLA-B	ORPHA:117
HP:0025031	Abnormality of the digestive system	7099	TLR4	ORPHA:117
HP:0025031	Abnormality of the digestive system	3459	IFNGR1	ORPHA:117
HP:0025031	Abnormality of the digestive system	720	C4A	ORPHA:117
HP:0025031	Abnormality of the digestive system	337867	UBAC2	ORPHA:117
HP:0025031	Abnormality of the digestive system	51752	ERAP1	ORPHA:117
HP:0025031	Abnormality of the digestive system	8302	KLRC4	ORPHA:117
HP:0025031	Abnormality of the digestive system	11005	SPINK5	ORPHA:634
HP:0025031	Abnormality of the digestive system	6628	SNRPB	OMIM:117650
HP:0025031	Abnormality of the digestive system	775	CACNA1C	OMIM:620029
HP:0025031	Abnormality of the digestive system	27315	PGAP2	OMIM:614207
HP:0025031	Abnormality of the digestive system	158326	FREM1	ORPHA:2717
HP:0025031	Abnormality of the digestive system	158326	FREM1	ORPHA:217266
HP:0025031	Abnormality of the digestive system	158326	FREM1	OMIM:248450
HP:0025031	Abnormality of the digestive system	2296	FOXC1	ORPHA:782
HP:0025031	Abnormality of the digestive system	10686	CLDN16	OMIM:248250
HP:0025031	Abnormality of the digestive system	353	APRT	OMIM:614723
HP:0025031	Abnormality of the digestive system	9570	GOSR2	OMIM:620166
HP:0025031	Abnormality of the digestive system	84133	ZNRF3	ORPHA:1501
HP:0025031	Abnormality of the digestive system	2984	GUCY2C	OMIM:614616
HP:0025031	Abnormality of the digestive system	2321	FLT1	ORPHA:275555
HP:0025031	Abnormality of the digestive system	219736	STOX1	ORPHA:275555
HP:0025031	Abnormality of the digestive system	10699	CORIN	ORPHA:275555
HP:0025031	Abnormality of the digestive system	84992	PIGY	OMIM:616809
HP:0025031	Abnormality of the digestive system	11330	CTRC	OMIM:167800
HP:0025031	Abnormality of the digestive system	11330	CTRC	ORPHA:676
HP:0025031	Abnormality of the digestive system	5645	PRSS2	OMIM:167800
HP:0025031	Abnormality of the digestive system	5645	PRSS2	ORPHA:676
HP:0025031	Abnormality of the digestive system	5644	PRSS1	OMIM:167800
HP:0025031	Abnormality of the digestive system	5644	PRSS1	ORPHA:676
HP:0025031	Abnormality of the digestive system	2521	FUS	ORPHA:99967
HP:0025031	Abnormality of the digestive system	1649	DDIT3	ORPHA:99967
HP:0025031	Abnormality of the digestive system	7234	TRU-TCA1-1	OMIM:620198
HP:0025031	Abnormality of the digestive system	1357	CPA1	ORPHA:676
HP:0025031	Abnormality of the digestive system	54795	TRPM4	ORPHA:871
HP:0025031	Abnormality of the digestive system	6331	SCN5A	ORPHA:871
HP:0025031	Abnormality of the digestive system	1053	CEBPE	OMIM:260570
HP:0025031	Abnormality of the digestive system	3257	HPS1	OMIM:203300
HP:0025031	Abnormality of the digestive system	1056	CEL	OMIM:609812
HP:0025031	Abnormality of the digestive system	3426	CFI	ORPHA:244242
HP:0025031	Abnormality of the digestive system	4179	CD46	ORPHA:244242
HP:0025031	Abnormality of the digestive system	101101692	HELLPAR	ORPHA:244242
HP:0025031	Abnormality of the digestive system	55898	UNC45A	OMIM:619377
HP:0025031	Abnormality of the digestive system	5371	PML	ORPHA:520
HP:0025031	Abnormality of the digestive system	5914	RARA	ORPHA:520
HP:0025031	Abnormality of the digestive system	81608	FIP1L1	ORPHA:520
HP:0025031	Abnormality of the digestive system	64859	NABP1	ORPHA:520
HP:0025031	Abnormality of the digestive system	6777	STAT5B	ORPHA:520
HP:0025031	Abnormality of the digestive system	4926	NUMA1	ORPHA:520
HP:0025031	Abnormality of the digestive system	7704	ZBTB16	ORPHA:520
HP:0025031	Abnormality of the digestive system	79718	TBL1XR1	ORPHA:520
HP:0025031	Abnormality of the digestive system	115286	SLC25A26	OMIM:616794
HP:0025031	Abnormality of the digestive system	2693	GHSR	ORPHA:314811
HP:0025031	Abnormality of the digestive system	3689	ITGB2	OMIM:116920
HP:0025031	Abnormality of the digestive system	3551	IKBKB	OMIM:615592
HP:0025031	Abnormality of the digestive system	6263	RYR3	OMIM:620310
HP:0025031	Abnormality of the digestive system	7037	TFRC	OMIM:616740
HP:0025031	Abnormality of the digestive system	84876	ORAI1	OMIM:612782
HP:0025031	Abnormality of the digestive system	9020	MAP3K14	OMIM:620449
HP:0025031	Abnormality of the digestive system	5528	PPP2R5D	OMIM:616355
HP:0025031	Abnormality of the digestive system	5528	PPP2R5D	ORPHA:457279
HP:0025031	Abnormality of the digestive system	10043	TOM1	OMIM:619510
HP:0025031	Abnormality of the digestive system	55027	HEATR3	OMIM:620072
HP:0025031	Abnormality of the digestive system	10606	PAICS	OMIM:619859
HP:0025031	Abnormality of the digestive system	51729	WBP11	OMIM:619227
HP:0025031	Abnormality of the digestive system	4990	SIX6	OMIM:206900
HP:0025031	Abnormality of the digestive system	318	NUDT2	OMIM:619844
HP:0025031	Abnormality of the digestive system	25930	PTPN23	OMIM:618890
HP:0025031	Abnormality of the digestive system	55065	SLC52A1	OMIM:615026
HP:0025031	Abnormality of the digestive system	9453	GGPS1	OMIM:619518
HP:0025031	Abnormality of the digestive system	2742	GLRA2	OMIM:301076
HP:0025031	Abnormality of the digestive system	84520	GON7	OMIM:619603
HP:0025031	Abnormality of the digestive system	84520	GON7	ORPHA:2065
HP:0025031	Abnormality of the digestive system	79693	YRDC	ORPHA:2065
HP:0025031	Abnormality of the digestive system	51002	TPRKB	ORPHA:2065
HP:0025031	Abnormality of the digestive system	55644	OSGEP	ORPHA:2065
HP:0025031	Abnormality of the digestive system	55644	OSGEP	OMIM:617729
HP:0025031	Abnormality of the digestive system	10785	WDR4	ORPHA:2065
HP:0025031	Abnormality of the digestive system	5243	ABCB1	OMIM:612244
HP:0025031	Abnormality of the digestive system	59067	IL21	OMIM:615767
HP:0025031	Abnormality of the digestive system	2165	F13B	ORPHA:331
HP:0025031	Abnormality of the digestive system	2162	F13A1	ORPHA:331
HP:0025031	Abnormality of the digestive system	5777	PTPN6	ORPHA:3243
HP:0025031	Abnormality of the digestive system	345611	IRGM	OMIM:612278
HP:0025031	Abnormality of the digestive system	64858	DCLRE1B	OMIM:620133
HP:0025031	Abnormality of the digestive system	2395	FXN	ORPHA:95
HP:0025031	Abnormality of the digestive system	1373	CPS1	OMIM:237300
HP:0025031	Abnormality of the digestive system	2215	FCGR3B	ORPHA:536
HP:0025031	Abnormality of the digestive system	3684	ITGAM	ORPHA:536
HP:0025031	Abnormality of the digestive system	221895	JAZF1	ORPHA:536
HP:0025031	Abnormality of the digestive system	640	BLK	ORPHA:536
HP:0025031	Abnormality of the digestive system	55024	BANK1	ORPHA:536
HP:0025031	Abnormality of the digestive system	3500	IGHG1	ORPHA:536
HP:0025031	Abnormality of the digestive system	5133	PDCD1	ORPHA:536
HP:0025031	Abnormality of the digestive system	2113	ETS1	ORPHA:536
HP:0025031	Abnormality of the digestive system	2213	FCGR2B	ORPHA:536
HP:0025031	Abnormality of the digestive system	10318	TNIP1	ORPHA:536
HP:0025031	Abnormality of the digestive system	7332	UBE2L3	ORPHA:536
HP:0025031	Abnormality of the digestive system	721	C4B	ORPHA:536
HP:0025031	Abnormality of the digestive system	1773	DNASE1	ORPHA:536
HP:0025031	Abnormality of the digestive system	51284	TLR7	ORPHA:536
HP:0025031	Abnormality of the digestive system	54899	PXK	ORPHA:536
HP:0025031	Abnormality of the digestive system	7128	TNFAIP3	ORPHA:536
HP:0025031	Abnormality of the digestive system	27249	MMADHC	ORPHA:79283
HP:0025031	Abnormality of the digestive system	9054	NFS1	OMIM:619386
HP:0025031	Abnormality of the digestive system	727	C5	OMIM:609536
HP:0025031	Abnormality of the digestive system	6603	SMARCD2	OMIM:617475
HP:0025031	Abnormality of the digestive system	63895	PIEZO2	OMIM:248700
HP:0025031	Abnormality of the digestive system	7528	YY1	ORPHA:97279
HP:0025031	Abnormality of the digestive system	2815	GP9	ORPHA:274
HP:0025031	Abnormality of the digestive system	2815	GP9	OMIM:231200
HP:0025031	Abnormality of the digestive system	2048	EPHB2	OMIM:618462
HP:0025031	Abnormality of the digestive system	7148	TNXB	ORPHA:230839
HP:0025031	Abnormality of the digestive system	2158	F9	OMIM:306900
HP:0025031	Abnormality of the digestive system	81575	APOLD1	OMIM:620715
HP:0025031	Abnormality of the digestive system	2022	ENG	OMIM:187300
HP:0025031	Abnormality of the digestive system	2022	ENG	ORPHA:774
HP:0025031	Abnormality of the digestive system	10320	IKZF1	ORPHA:36426
HP:0025031	Abnormality of the digestive system	3674	ITGA2B	ORPHA:849
HP:0025031	Abnormality of the digestive system	3674	ITGA2B	OMIM:273800
HP:0025031	Abnormality of the digestive system	3674	ITGA2B	ORPHA:853
HP:0025031	Abnormality of the digestive system	3690	ITGB3	ORPHA:849
HP:0025031	Abnormality of the digestive system	3690	ITGB3	ORPHA:853
HP:0025031	Abnormality of the digestive system	2160	F11	ORPHA:329
HP:0025031	Abnormality of the digestive system	9103	FCGR2C	ORPHA:3002
HP:0025031	Abnormality of the digestive system	2155	F7	ORPHA:327
HP:0025031	Abnormality of the digestive system	22827	PUF60	ORPHA:508488
HP:0025031	Abnormality of the digestive system	7450	VWF	OMIM:193400
HP:0025031	Abnormality of the digestive system	26191	PTPN22	ORPHA:900
HP:0025031	Abnormality of the digestive system	3115	HLA-DPB1	ORPHA:900
HP:0025031	Abnormality of the digestive system	5657	PRTN3	ORPHA:900
HP:0025031	Abnormality of the digestive system	3113	HLA-DPA1	ORPHA:900
HP:0025031	Abnormality of the digestive system	2244	FGB	ORPHA:98881
HP:0025031	Abnormality of the digestive system	2244	FGB	ORPHA:101041
HP:0025031	Abnormality of the digestive system	2266	FGG	ORPHA:98881
HP:0025031	Abnormality of the digestive system	2266	FGG	ORPHA:101041
HP:0025031	Abnormality of the digestive system	79991	STN1	OMIM:617341
HP:0025031	Abnormality of the digestive system	64132	XYLT2	OMIM:264800
HP:0025031	Abnormality of the digestive system	3998	LMAN1	ORPHA:35909
HP:0025031	Abnormality of the digestive system	90411	MCFD2	ORPHA:35909
HP:0025031	Abnormality of the digestive system	3673	ITGA2	ORPHA:853
HP:0025031	Abnormality of the digestive system	135228	CD109	ORPHA:853
HP:0025031	Abnormality of the digestive system	2658	GDF2	ORPHA:774
HP:0025031	Abnormality of the digestive system	94	ACVRL1	ORPHA:774
HP:0025031	Abnormality of the digestive system	2157	F8	ORPHA:169805
HP:0025031	Abnormality of the digestive system	2157	F8	ORPHA:169802
HP:0025031	Abnormality of the digestive system	2147	F2	OMIM:613679
HP:0025031	Abnormality of the digestive system	8328	GFI1B	OMIM:187900
HP:0025031	Abnormality of the digestive system	1374	CPT1A	ORPHA:156
HP:0025031	Abnormality of the digestive system	1374	CPT1A	OMIM:255120
HP:0025031	Abnormality of the digestive system	2137	EXTL3	ORPHA:508533
HP:0025031	Abnormality of the digestive system	6584	SLC22A5	ORPHA:158
HP:0025031	Abnormality of the digestive system	6584	SLC22A5	OMIM:212140
HP:0025031	Abnormality of the digestive system	875	CBS	ORPHA:394
HP:0025031	Abnormality of the digestive system	25915	NDUFAF3	ORPHA:2609
HP:0025031	Abnormality of the digestive system	51103	NDUFAF1	ORPHA:2609
HP:0025031	Abnormality of the digestive system	51103	NDUFAF1	OMIM:618234
HP:0025031	Abnormality of the digestive system	91942	NDUFAF2	ORPHA:2609
HP:0025031	Abnormality of the digestive system	51300	TIMMDC1	ORPHA:2609
HP:0025031	Abnormality of the digestive system	4716	NDUFB10	ORPHA:2609
HP:0025031	Abnormality of the digestive system	4723	NDUFV1	ORPHA:2609
HP:0025031	Abnormality of the digestive system	55572	FOXRED1	ORPHA:2609
HP:0025031	Abnormality of the digestive system	284184	NDUFAF8	ORPHA:2609
HP:0025031	Abnormality of the digestive system	55863	TMEM126B	ORPHA:2609
HP:0025031	Abnormality of the digestive system	4535	MT-ND1	ORPHA:2609
HP:0025031	Abnormality of the digestive system	4535	MT-ND1	ORPHA:255210
HP:0025031	Abnormality of the digestive system	4537	MT-ND3	ORPHA:2609
HP:0025031	Abnormality of the digestive system	4537	MT-ND3	ORPHA:255210
HP:0025031	Abnormality of the digestive system	4729	NDUFV2	ORPHA:2609
HP:0025031	Abnormality of the digestive system	4694	NDUFA1	ORPHA:2609
HP:0025031	Abnormality of the digestive system	4720	NDUFS2	ORPHA:2609
HP:0025031	Abnormality of the digestive system	4726	NDUFS6	ORPHA:2609
HP:0025031	Abnormality of the digestive system	4728	NDUFS8	ORPHA:2609
HP:0025031	Abnormality of the digestive system	4722	NDUFS3	ORPHA:2609
HP:0025031	Abnormality of the digestive system	79133	NDUFAF5	ORPHA:2609
HP:0025031	Abnormality of the digestive system	126328	NDUFA11	ORPHA:2609
HP:0025031	Abnormality of the digestive system	4709	NDUFB3	ORPHA:2609
HP:0025031	Abnormality of the digestive system	80224	NUBPL	ORPHA:2609
HP:0025031	Abnormality of the digestive system	29078	NDUFAF4	ORPHA:2609
HP:0025031	Abnormality of the digestive system	374291	NDUFS7	ORPHA:2609
HP:0025031	Abnormality of the digestive system	374291	NDUFS7	OMIM:618224
HP:0025031	Abnormality of the digestive system	4700	NDUFA6	ORPHA:2609
HP:0025031	Abnormality of the digestive system	4536	MT-ND2	ORPHA:2609
HP:0025031	Abnormality of the digestive system	4536	MT-ND2	ORPHA:255210
HP:0025031	Abnormality of the digestive system	4719	NDUFS1	ORPHA:2609
HP:0025031	Abnormality of the digestive system	4719	NDUFS1	OMIM:618226
HP:0025031	Abnormality of the digestive system	4715	NDUFB9	ORPHA:2609
HP:0025031	Abnormality of the digestive system	26235	FBXL4	OMIM:615471
HP:0025031	Abnormality of the digestive system	229	ALDOB	OMIM:229600
HP:0025031	Abnormality of the digestive system	229	ALDOB	ORPHA:469
HP:0025031	Abnormality of the digestive system	57128	LYRM4	OMIM:615595
HP:0025031	Abnormality of the digestive system	60684	TRAPPC11	OMIM:615356
HP:0025031	Abnormality of the digestive system	60684	TRAPPC11	ORPHA:369840
HP:0025031	Abnormality of the digestive system	63924	CIDEC	OMIM:615238
HP:0025031	Abnormality of the digestive system	63924	CIDEC	ORPHA:435651
HP:0025031	Abnormality of the digestive system	84334	COA8	ORPHA:436271
HP:0025031	Abnormality of the digestive system	51	ACOX1	ORPHA:2971
HP:0025031	Abnormality of the digestive system	51	ACOX1	OMIM:264470
HP:0025031	Abnormality of the digestive system	51099	ABHD5	OMIM:275630
HP:0025031	Abnormality of the digestive system	51099	ABHD5	ORPHA:98907
HP:0025031	Abnormality of the digestive system	2067	ERCC1	ORPHA:90322
HP:0025031	Abnormality of the digestive system	4538	MT-ND4	ORPHA:255210
HP:0025031	Abnormality of the digestive system	4567	MT-TL1	ORPHA:255210
HP:0025031	Abnormality of the digestive system	4578	MT-TW	ORPHA:255210
HP:0025031	Abnormality of the digestive system	4577	MT-TV	ORPHA:255210
HP:0025031	Abnormality of the digestive system	4508	MT-ATP6	ORPHA:255210
HP:0025031	Abnormality of the digestive system	4508	MT-ATP6	ORPHA:254913
HP:0025031	Abnormality of the digestive system	4540	MT-ND5	ORPHA:255210
HP:0025031	Abnormality of the digestive system	4541	MT-ND6	ORPHA:255210
HP:0025031	Abnormality of the digestive system	4566	MT-TK	ORPHA:255210
HP:0025031	Abnormality of the digestive system	4233	MET	ORPHA:33402
HP:0025031	Abnormality of the digestive system	4141	MARS1	OMIM:615486
HP:0025031	Abnormality of the digestive system	1855	DVL1	OMIM:616331
HP:0025031	Abnormality of the digestive system	7086	TKT	ORPHA:488618
HP:0025031	Abnormality of the digestive system	2212	FCGR2A	OMIM:219700
HP:0025031	Abnormality of the digestive system	5105	PCK1	OMIM:261680
HP:0025031	Abnormality of the digestive system	130589	GALM	OMIM:618881
HP:0025031	Abnormality of the digestive system	130589	GALM	ORPHA:570422
HP:0025031	Abnormality of the digestive system	91869	RFT1	ORPHA:244310
HP:0025031	Abnormality of the digestive system	91869	RFT1	OMIM:612015
HP:0025031	Abnormality of the digestive system	388962	BOLA3	OMIM:614299
HP:0025031	Abnormality of the digestive system	788	SLC25A20	ORPHA:159
HP:0025031	Abnormality of the digestive system	788	SLC25A20	OMIM:212138
HP:0025031	Abnormality of the digestive system	5373	PMM2	OMIM:212065
HP:0025031	Abnormality of the digestive system	5311	PKD2	OMIM:613095
HP:0025031	Abnormality of the digestive system	8482	SEMA7A	OMIM:619874
HP:0025031	Abnormality of the digestive system	2200	FBN1	OMIM:614185
HP:0025031	Abnormality of the digestive system	10068	IL18BP	OMIM:618549
HP:0025031	Abnormality of the digestive system	7381	UQCRB	OMIM:615158
HP:0025031	Abnormality of the digestive system	5836	PYGL	OMIM:232700
HP:0025031	Abnormality of the digestive system	5836	PYGL	ORPHA:369
HP:0025031	Abnormality of the digestive system	54440	SASH3	OMIM:301082
HP:0025031	Abnormality of the digestive system	2203	FBP1	ORPHA:348
HP:0025031	Abnormality of the digestive system	2203	FBP1	OMIM:229700
HP:0025031	Abnormality of the digestive system	166785	MMAA	OMIM:251100
HP:0025031	Abnormality of the digestive system	85365	ALG2	ORPHA:79326
HP:0025031	Abnormality of the digestive system	85365	ALG2	OMIM:607906
HP:0025031	Abnormality of the digestive system	57169	ZNFX1	OMIM:619644
HP:0025031	Abnormality of the digestive system	10991	SLC38A3	OMIM:619881
HP:0025031	Abnormality of the digestive system	7841	MOGS	ORPHA:79330
HP:0025031	Abnormality of the digestive system	7841	MOGS	OMIM:606056
HP:0025031	Abnormality of the digestive system	38	ACAT1	ORPHA:134
HP:0025031	Abnormality of the digestive system	4351	MPI	ORPHA:79319
HP:0025031	Abnormality of the digestive system	4351	MPI	OMIM:602579
HP:0025031	Abnormality of the digestive system	7030	TFE3	OMIM:301066
HP:0025031	Abnormality of the digestive system	51651	PTRH2	OMIM:616263
HP:0025031	Abnormality of the digestive system	51651	PTRH2	ORPHA:456312
HP:0025031	Abnormality of the digestive system	5966	REL	OMIM:619652
HP:0025031	Abnormality of the digestive system	23162	MAPK8IP3	OMIM:618443
HP:0025031	Abnormality of the digestive system	84168	ANTXR1	OMIM:230740
HP:0025031	Abnormality of the digestive system	3172	HNF4A	OMIM:616026
HP:0025031	Abnormality of the digestive system	3172	HNF4A	ORPHA:263455
HP:0025031	Abnormality of the digestive system	6576	SLC25A1	OMIM:615182
HP:0025031	Abnormality of the digestive system	6927	HNF1A	ORPHA:324575
HP:0025031	Abnormality of the digestive system	205327	C2orf69	OMIM:619423
HP:0025031	Abnormality of the digestive system	4633	MYL2	OMIM:619424
HP:0025031	Abnormality of the digestive system	113220	KIF12	OMIM:619662
HP:0025031	Abnormality of the digestive system	3000	GUCY2D	OMIM:204000
HP:0025031	Abnormality of the digestive system	335	APOA1	OMIM:620657
HP:0025031	Abnormality of the digestive system	435	ASL	ORPHA:23
HP:0025031	Abnormality of the digestive system	435	ASL	OMIM:207900
HP:0025031	Abnormality of the digestive system	3155	HMGCL	ORPHA:20
HP:0025031	Abnormality of the digestive system	3155	HMGCL	OMIM:246450
HP:0025031	Abnormality of the digestive system	10466	COG5	ORPHA:263487
HP:0025031	Abnormality of the digestive system	54517	PUS7	OMIM:618342
HP:0025031	Abnormality of the digestive system	85476	GFM1	OMIM:609060
HP:0025031	Abnormality of the digestive system	8818	DPM2	ORPHA:329178
HP:0025031	Abnormality of the digestive system	10102	TSFM	OMIM:610505
HP:0025031	Abnormality of the digestive system	5095	PCCA	ORPHA:35
HP:0025031	Abnormality of the digestive system	5095	PCCA	OMIM:606054
HP:0025031	Abnormality of the digestive system	5096	PCCB	ORPHA:35
HP:0025031	Abnormality of the digestive system	5096	PCCB	OMIM:606054
HP:0025031	Abnormality of the digestive system	4695	NDUFA2	OMIM:618235
HP:0025031	Abnormality of the digestive system	79868	ALG13	OMIM:300884
HP:0025031	Abnormality of the digestive system	6729	SRP54	OMIM:260400
HP:0025031	Abnormality of the digestive system	150	ADRA2A	OMIM:620679
HP:0025031	Abnormality of the digestive system	10166	SLC25A15	ORPHA:415
HP:0025031	Abnormality of the digestive system	10166	SLC25A15	OMIM:238970
HP:0025031	Abnormality of the digestive system	34	ACADM	OMIM:201450
HP:0025031	Abnormality of the digestive system	34	ACADM	ORPHA:42
HP:0025031	Abnormality of the digestive system	7468	NSD2	OMIM:619695
HP:0025031	Abnormality of the digestive system	11145	PLAAT3	OMIM:620683
HP:0025031	Abnormality of the digestive system	3158	HMGCS2	OMIM:605911
HP:0025031	Abnormality of the digestive system	4547	MTTP	ORPHA:14
HP:0025031	Abnormality of the digestive system	112812	FDX2	OMIM:251900
HP:0025031	Abnormality of the digestive system	8802	SUCLG1	ORPHA:17
HP:0025031	Abnormality of the digestive system	6811	STX5	OMIM:620454
HP:0025031	Abnormality of the digestive system	60386	SLC25A19	ORPHA:99742
HP:0025031	Abnormality of the digestive system	60386	SLC25A19	OMIM:607196
HP:0025031	Abnormality of the digestive system	37	ACADVL	OMIM:201475
HP:0025031	Abnormality of the digestive system	37	ACADVL	ORPHA:26793
HP:0025031	Abnormality of the digestive system	570	BAAT	OMIM:619232
HP:0025031	Abnormality of the digestive system	94005	PIGS	OMIM:618143
HP:0025031	Abnormality of the digestive system	84665	MYPN	ORPHA:75249
HP:0025031	Abnormality of the digestive system	2318	FLNC	ORPHA:75249
HP:0025031	Abnormality of the digestive system	7139	TNNT2	ORPHA:75249
HP:0025031	Abnormality of the digestive system	7137	TNNI3	ORPHA:75249
HP:0025031	Abnormality of the digestive system	374354	NHLRC2	OMIM:618278
HP:0025031	Abnormality of the digestive system	374879	ZNF699	OMIM:619488
HP:0025031	Abnormality of the digestive system	10651	MTX2	OMIM:619127
HP:0025031	Abnormality of the digestive system	7284	TUFM	OMIM:610678
HP:0025031	Abnormality of the digestive system	3030	HADHA	OMIM:609016
HP:0025031	Abnormality of the digestive system	3030	HADHA	ORPHA:5
HP:0025031	Abnormality of the digestive system	10551	AGR2	OMIM:620233
HP:0025031	Abnormality of the digestive system	9487	PIGL	OMIM:280000
HP:0025031	Abnormality of the digestive system	383	ARG1	OMIM:207800
HP:0025031	Abnormality of the digestive system	5236	PGM1	OMIM:614921
HP:0025031	Abnormality of the digestive system	55005	RMND1	OMIM:614922
HP:0025031	Abnormality of the digestive system	1376	CPT2	ORPHA:228305
HP:0025031	Abnormality of the digestive system	1376	CPT2	ORPHA:228308
HP:0025031	Abnormality of the digestive system	1376	CPT2	OMIM:600649
HP:0025031	Abnormality of the digestive system	1376	CPT2	OMIM:608836
HP:0025031	Abnormality of the digestive system	2353	FOS	ORPHA:528
HP:0025031	Abnormality of the digestive system	124454	EARS2	OMIM:614924
HP:0025031	Abnormality of the digestive system	1719	DHFR	OMIM:613839
HP:0025031	Abnormality of the digestive system	64131	XYLT1	ORPHA:370930
HP:0025031	Abnormality of the digestive system	129285	PPP1R21	OMIM:619383
HP:0025031	Abnormality of the digestive system	27183	VPS4A	OMIM:619273
HP:0025031	Abnormality of the digestive system	6309	SC5D	ORPHA:46059
HP:0025031	Abnormality of the digestive system	4574	MT-TS1	OMIM:220110
HP:0025031	Abnormality of the digestive system	4570	MT-TN	OMIM:220110
HP:0025031	Abnormality of the digestive system	6834	SURF1	OMIM:220110
HP:0025031	Abnormality of the digestive system	83700	JAM3	OMIM:613730
HP:0025031	Abnormality of the digestive system	8854	ALDH1A2	OMIM:620025
HP:0025031	Abnormality of the digestive system	9051	PSTPIP1	OMIM:601979
HP:0025031	Abnormality of the digestive system	6341	SCO1	OMIM:619048
HP:0025031	Abnormality of the digestive system	79947	DHDDS	OMIM:613861
HP:0025031	Abnormality of the digestive system	55788	LMBRD1	OMIM:277380
HP:0025031	Abnormality of the digestive system	30061	SLC40A1	OMIM:606069
HP:0025031	Abnormality of the digestive system	84987	COX14	OMIM:619053
HP:0025031	Abnormality of the digestive system	1738	DLD	ORPHA:2394
HP:0025031	Abnormality of the digestive system	1738	DLD	OMIM:246900
HP:0025031	Abnormality of the digestive system	4509	MT-ATP8	ORPHA:254913
HP:0025031	Abnormality of the digestive system	514	ATP5F1E	ORPHA:254913
HP:0025031	Abnormality of the digestive system	513	ATP5F1D	ORPHA:254913
HP:0025031	Abnormality of the digestive system	498	ATP5F1A	ORPHA:254913
HP:0025031	Abnormality of the digestive system	84833	ATP5MK	ORPHA:254913
HP:0025031	Abnormality of the digestive system	91647	ATPAF2	ORPHA:254913
HP:0025031	Abnormality of the digestive system	91647	ATPAF2	OMIM:604273
HP:0025031	Abnormality of the digestive system	2538	G6PC1	OMIM:232200
HP:0025031	Abnormality of the digestive system	9927	MFN2	ORPHA:2398
HP:0025031	Abnormality of the digestive system	208	AKT2	ORPHA:79085
HP:0025031	Abnormality of the digestive system	55858	TMEM165	OMIM:614727
HP:0025031	Abnormality of the digestive system	23116	TOGARAM1	OMIM:619185
HP:0025031	Abnormality of the digestive system	9377	COX5A	OMIM:619064
HP:0025031	Abnormality of the digestive system	63894	VIPAS39	OMIM:613404
HP:0025031	Abnormality of the digestive system	374393	FAM111B	OMIM:615704
HP:0025031	Abnormality of the digestive system	1798	DPAGT1	ORPHA:86309
HP:0025031	Abnormality of the digestive system	5091	PC	OMIM:266150
HP:0025031	Abnormality of the digestive system	51660	MPC1	OMIM:614741
HP:0025031	Abnormality of the digestive system	3991	LIPE	ORPHA:435660
HP:0025031	Abnormality of the digestive system	4519	MT-CYB	ORPHA:137675
HP:0025031	Abnormality of the digestive system	9719	ADAMTSL2	OMIM:231050
HP:0025031	Abnormality of the digestive system	10165	SLC25A13	ORPHA:247598
HP:0025031	Abnormality of the digestive system	10165	SLC25A13	ORPHA:247585
HP:0025031	Abnormality of the digestive system	388015	RTL1	ORPHA:96334
HP:0025031	Abnormality of the digestive system	8788	DLK1	ORPHA:96334
HP:0025031	Abnormality of the digestive system	55384	MEG3	ORPHA:96334
HP:0025031	Abnormality of the digestive system	3911	LAMA5	OMIM:620076
HP:0025031	Abnormality of the digestive system	55343	SLC35C1	ORPHA:99843
HP:0025031	Abnormality of the digestive system	1028	CDKN1C	OMIM:130650
HP:0025031	Abnormality of the digestive system	3481	IGF2	OMIM:130650
HP:0025031	Abnormality of the digestive system	3784	KCNQ1	OMIM:130650
HP:0025031	Abnormality of the digestive system	10984	KCNQ1OT1	OMIM:130650
HP:0025031	Abnormality of the digestive system	162417	NAGS	ORPHA:927
HP:0025031	Abnormality of the digestive system	445	ASS1	OMIM:215700
HP:0025031	Abnormality of the digestive system	147007	TMEM199	OMIM:616829
HP:0025031	Abnormality of the digestive system	10568	SLC34A2	ORPHA:60025
HP:0025031	Abnormality of the digestive system	51067	YARS2	OMIM:613561
HP:0025031	Abnormality of the digestive system	7351	UCP2	ORPHA:276556
HP:0025031	Abnormality of the digestive system	4054	LTBP3	OMIM:617809
HP:0025031	Abnormality of the digestive system	6948	TCN2	OMIM:275350
HP:0025031	Abnormality of the digestive system	55593	OTUD5	OMIM:301056
HP:0025031	Abnormality of the digestive system	3074	HEXB	OMIM:268800
HP:0025031	Abnormality of the digestive system	549	AUH	ORPHA:67046
HP:0025031	Abnormality of the digestive system	6833	ABCC8	ORPHA:276575
HP:0025031	Abnormality of the digestive system	3767	KCNJ11	ORPHA:276580
HP:0025031	Abnormality of the digestive system	7547	ZIC3	OMIM:306955
HP:0025031	Abnormality of the digestive system	26007	TKFC	OMIM:618805
HP:0025031	Abnormality of the digestive system	708	C1QBP	OMIM:617713
HP:0025031	Abnormality of the digestive system	284086	NEK8	OMIM:615415
HP:0025031	Abnormality of the digestive system	55764	IFT122	OMIM:218330
HP:0025031	Abnormality of the digestive system	55210	ATAD3A	OMIM:618810
HP:0025031	Abnormality of the digestive system	326625	MMAB	OMIM:251110
HP:0025031	Abnormality of the digestive system	760	CA2	ORPHA:2785
HP:0025031	Abnormality of the digestive system	2584	GALK1	ORPHA:79237
HP:0025031	Abnormality of the digestive system	9997	SCO2	OMIM:604377
HP:0025031	Abnormality of the digestive system	11222	MRPL3	OMIM:614582
HP:0025031	Abnormality of the digestive system	2588	GALNS	OMIM:253000
HP:0025031	Abnormality of the digestive system	51520	LARS1	OMIM:615438
HP:0025031	Abnormality of the digestive system	26047	CNTNAP2	ORPHA:163681
HP:0025031	Abnormality of the digestive system	200894	ARL13B	OMIM:612291
HP:0025031	Abnormality of the digestive system	28957	MRPS28	OMIM:618958
HP:0025031	Abnormality of the digestive system	27232	GNMT	OMIM:606664
HP:0025031	Abnormality of the digestive system	51081	MRPS7	OMIM:617872
HP:0025031	Abnormality of the digestive system	178	AGL	OMIM:232400
HP:0025031	Abnormality of the digestive system	4668	NAGA	ORPHA:79281
HP:0025031	Abnormality of the digestive system	4668	NAGA	ORPHA:79279
HP:0025031	Abnormality of the digestive system	2639	GCDH	OMIM:231670
HP:0025031	Abnormality of the digestive system	8625	RFXANK	OMIM:620815
HP:0025031	Abnormality of the digestive system	1794	DOCK2	OMIM:616433
HP:0025031	Abnormality of the digestive system	2110	ETFDH	OMIM:231680
HP:0025031	Abnormality of the digestive system	2108	ETFA	OMIM:231680
HP:0025031	Abnormality of the digestive system	2109	ETFB	OMIM:231680
HP:0025031	Abnormality of the digestive system	5052	PRDX1	OMIM:277400
HP:0025031	Abnormality of the digestive system	25974	MMACHC	OMIM:277400
HP:0025031	Abnormality of the digestive system	22900	CARD8	OMIM:619079
HP:0025031	Abnormality of the digestive system	6774	STAT3	OMIM:615952
HP:0025031	Abnormality of the digestive system	8516	ITGA8	ORPHA:1848
HP:0025031	Abnormality of the digestive system	26281	FGF20	ORPHA:1848
HP:0025031	Abnormality of the digestive system	2674	GFRA1	ORPHA:1848
HP:0025031	Abnormality of the digestive system	7484	WNT9B	ORPHA:1848
HP:0025031	Abnormality of the digestive system	80000	GREB1L	ORPHA:1848
HP:0025031	Abnormality of the digestive system	162	AP1B1	ORPHA:171851
HP:0025031	Abnormality of the digestive system	1174	AP1S1	ORPHA:171851
HP:0025031	Abnormality of the digestive system	50485	SMARCAL1	ORPHA:1830
HP:0025031	Abnormality of the digestive system	917	CD3G	OMIM:615607
HP:0025031	Abnormality of the digestive system	100303755	PET117	OMIM:619063
HP:0025031	Abnormality of the digestive system	7852	CXCR4	ORPHA:51636
HP:0025031	Abnormality of the digestive system	25914	RTTN	ORPHA:468631
HP:0025031	Abnormality of the digestive system	7456	WIPF1	ORPHA:906
HP:0025031	Abnormality of the digestive system	9493	KIF23	ORPHA:98870
HP:0025031	Abnormality of the digestive system	29127	RACGAP1	ORPHA:98870
HP:0025031	Abnormality of the digestive system	26128	KIFBP	OMIM:609460
HP:0025031	Abnormality of the digestive system	26128	KIFBP	ORPHA:66629
HP:0025031	Abnormality of the digestive system	627	BDNF	ORPHA:661
HP:0025031	Abnormality of the digestive system	51524	TMEM138	ORPHA:2318
HP:0025031	Abnormality of the digestive system	23090	ZNF423	ORPHA:2318
HP:0025031	Abnormality of the digestive system	5077	PAX3	OMIM:148820
HP:0025031	Abnormality of the digestive system	5077	PAX3	ORPHA:894
HP:0025031	Abnormality of the digestive system	6591	SNAI2	ORPHA:2884
HP:0025031	Abnormality of the digestive system	6591	SNAI2	ORPHA:895
HP:0025031	Abnormality of the digestive system	7299	TYR	ORPHA:895
HP:0025031	Abnormality of the digestive system	4254	KITLG	ORPHA:895
HP:0025031	Abnormality of the digestive system	3897	L1CAM	OMIM:304100
HP:0025031	Abnormality of the digestive system	3897	L1CAM	ORPHA:1497
HP:0025031	Abnormality of the digestive system	2138	EYA1	OMIM:113650
HP:0025031	Abnormality of the digestive system	6495	SIX1	OMIM:113650
HP:0025031	Abnormality of the digestive system	8882	ZPR1	OMIM:619321
HP:0025031	Abnormality of the digestive system	25790	CFAP45	OMIM:619608
HP:0025031	Abnormality of the digestive system	815	CAMK2A	OMIM:617798
HP:0025031	Abnormality of the digestive system	1063	CENPF	OMIM:243605
HP:0025031	Abnormality of the digestive system	118856	MMP21	OMIM:616749
HP:0025031	Abnormality of the digestive system	23414	ZFPM2	ORPHA:2140
HP:0025031	Abnormality of the digestive system	3192	HNRNPU	ORPHA:238769
HP:0025031	Abnormality of the digestive system	6878	TAF6	ORPHA:199
HP:0025031	Abnormality of the digestive system	55869	HDAC8	ORPHA:199
HP:0025031	Abnormality of the digestive system	25981	DNAH1	ORPHA:244
HP:0025031	Abnormality of the digestive system	115948	ODAD3	ORPHA:244
HP:0025031	Abnormality of the digestive system	54768	HYDIN	ORPHA:244
HP:0025031	Abnormality of the digestive system	352909	DNAAF3	ORPHA:244
HP:0025031	Abnormality of the digestive system	27148	STK36	ORPHA:244
HP:0025031	Abnormality of the digestive system	51314	NME8	ORPHA:244
HP:0025031	Abnormality of the digestive system	92749	DRC1	ORPHA:244
HP:0025031	Abnormality of the digestive system	54970	TTC12	ORPHA:244
HP:0025031	Abnormality of the digestive system	152110	NEK10	ORPHA:244
HP:0025031	Abnormality of the digestive system	221421	RSPH9	ORPHA:244
HP:0025031	Abnormality of the digestive system	85478	CCDC65	ORPHA:244
HP:0025031	Abnormality of the digestive system	55036	CCDC40	ORPHA:244
HP:0025031	Abnormality of the digestive system	51364	ZMYND10	ORPHA:244
HP:0025031	Abnormality of the digestive system	64446	DNAI2	ORPHA:244
HP:0025031	Abnormality of the digestive system	8382	NME5	ORPHA:244
HP:0025031	Abnormality of the digestive system	6674	SPAG1	ORPHA:244
HP:0025031	Abnormality of the digestive system	83544	DNAL1	ORPHA:244
HP:0025031	Abnormality of the digestive system	89765	RSPH1	ORPHA:244
HP:0025031	Abnormality of the digestive system	200373	CFAP221	ORPHA:244
HP:0025031	Abnormality of the digestive system	374407	DNAJB13	ORPHA:244
HP:0025031	Abnormality of the digestive system	55172	DNAAF2	ORPHA:244
HP:0025031	Abnormality of the digestive system	161582	DNAAF4	ORPHA:244
HP:0025031	Abnormality of the digestive system	2622	GAS8	ORPHA:244
HP:0025031	Abnormality of the digestive system	23639	DNAAF11	ORPHA:244
HP:0025031	Abnormality of the digestive system	27019	DNAI1	ORPHA:244
HP:0025031	Abnormality of the digestive system	345895	RSPH4A	ORPHA:244
HP:0025031	Abnormality of the digestive system	6103	RPGR	ORPHA:244
HP:0025031	Abnormality of the digestive system	85452	CFAP74	ORPHA:244
HP:0025031	Abnormality of the digestive system	93233	ODAD1	ORPHA:244
HP:0025031	Abnormality of the digestive system	55130	ODAD2	ORPHA:244
HP:0025031	Abnormality of the digestive system	1767	DNAH5	ORPHA:244
HP:0025031	Abnormality of the digestive system	83861	RSPH3	ORPHA:244
HP:0025031	Abnormality of the digestive system	345643	MCIDAS	ORPHA:244
HP:0025031	Abnormality of the digestive system	56683	CFAP298	ORPHA:244
HP:0025031	Abnormality of the digestive system	79925	SPEF2	ORPHA:244
HP:0025031	Abnormality of the digestive system	10309	CCNO	ORPHA:244
HP:0025031	Abnormality of the digestive system	115399	LRRC56	ORPHA:244
HP:0025031	Abnormality of the digestive system	139212	DNAAF6	ORPHA:244
HP:0025031	Abnormality of the digestive system	123872	DNAAF1	ORPHA:244
HP:0025031	Abnormality of the digestive system	85016	CFAP300	ORPHA:244
HP:0025031	Abnormality of the digestive system	339829	CCDC39	ORPHA:244
HP:0025031	Abnormality of the digestive system	8701	DNAH11	ORPHA:244
HP:0025031	Abnormality of the digestive system	1770	DNAH9	ORPHA:244
HP:0025031	Abnormality of the digestive system	246176	GAS2L2	ORPHA:244
HP:0025031	Abnormality of the digestive system	338	APOB	OMIM:615558
HP:0025031	Abnormality of the digestive system	123264	SLC51B	OMIM:619481
HP:0025031	Abnormality of the digestive system	8309	ACOX2	OMIM:617308
HP:0025031	Abnormality of the digestive system	256297	PTF1A	OMIM:615935
HP:0025031	Abnormality of the digestive system	55699	IARS2	OMIM:616007
HP:0025031	Abnormality of the digestive system	55699	IARS2	ORPHA:436174
HP:0025031	Abnormality of the digestive system	728294	D2HGDH	OMIM:600721
HP:0025031	Abnormality of the digestive system	11235	PDCD10	ORPHA:221061
HP:0025031	Abnormality of the digestive system	83605	CCM2	ORPHA:221061
HP:0025031	Abnormality of the digestive system	2593	GAMT	OMIM:612736
HP:0025031	Abnormality of the digestive system	4511	MT-TC	OMIM:540000
HP:0025031	Abnormality of the digestive system	6821	SUOX	OMIM:272300
HP:0025031	Abnormality of the digestive system	84172	POLR1B	ORPHA:861
HP:0025031	Abnormality of the digestive system	9533	POLR1C	ORPHA:861
HP:0025031	Abnormality of the digestive system	51082	POLR1D	ORPHA:861
HP:0025031	Abnormality of the digestive system	6949	TCOF1	ORPHA:861
HP:0025031	Abnormality of the digestive system	2201	FBN2	ORPHA:115
HP:0025031	Abnormality of the digestive system	6638	SNRPN	ORPHA:177904
HP:0025031	Abnormality of the digestive system	6638	SNRPN	ORPHA:177901
HP:0025031	Abnormality of the digestive system	6638	SNRPN	ORPHA:98754
HP:0025031	Abnormality of the digestive system	4692	NDN	ORPHA:177904
HP:0025031	Abnormality of the digestive system	4692	NDN	ORPHA:177901
HP:0025031	Abnormality of the digestive system	4692	NDN	ORPHA:98754
HP:0025031	Abnormality of the digestive system	54551	MAGEL2	ORPHA:177904
HP:0025031	Abnormality of the digestive system	54551	MAGEL2	ORPHA:177901
HP:0025031	Abnormality of the digestive system	54551	MAGEL2	ORPHA:98754
HP:0025031	Abnormality of the digestive system	4948	OCA2	ORPHA:177904
HP:0025031	Abnormality of the digestive system	4948	OCA2	ORPHA:177901
HP:0025031	Abnormality of the digestive system	4948	OCA2	ORPHA:98754
HP:0025031	Abnormality of the digestive system	6651	SON	ORPHA:500150
HP:0025031	Abnormality of the digestive system	27125	AFF4	OMIM:616368
HP:0025031	Abnormality of the digestive system	5885	RAD21	OMIM:611376
HP:0025031	Abnormality of the digestive system	6240	RRM1	OMIM:620647
HP:0025031	Abnormality of the digestive system	3190	HNRNPK	ORPHA:352665
HP:0025031	Abnormality of the digestive system	3190	HNRNPK	ORPHA:453504
HP:0025031	Abnormality of the digestive system	4247	MGAT2	ORPHA:79329
HP:0025031	Abnormality of the digestive system	219972	MPEG1	OMIM:619223
HP:0025031	Abnormality of the digestive system	54968	TMEM70	OMIM:614052
HP:0025031	Abnormality of the digestive system	7543	ZFX	OMIM:301118
HP:0025031	Abnormality of the digestive system	6885	MAP3K7	OMIM:157800
HP:0025031	Abnormality of the digestive system	5610	EIF2AK2	OMIM:618877
HP:0025031	Abnormality of the digestive system	54832	VPS13C	ORPHA:2828
HP:0025031	Abnormality of the digestive system	11315	PARK7	ORPHA:2828
HP:0025031	Abnormality of the digestive system	7345	UCHL1	ORPHA:2828
HP:0025031	Abnormality of the digestive system	27429	HTRA2	ORPHA:2828
HP:0025031	Abnormality of the digestive system	120892	LRRK2	ORPHA:2828
HP:0025031	Abnormality of the digestive system	9829	DNAJC6	ORPHA:2828
HP:0025031	Abnormality of the digestive system	6622	SNCA	ORPHA:2828
HP:0025031	Abnormality of the digestive system	5420	PODXL	ORPHA:2828
HP:0025031	Abnormality of the digestive system	65018	PINK1	ORPHA:2828
HP:0025031	Abnormality of the digestive system	8867	SYNJ1	ORPHA:2828
HP:0025031	Abnormality of the digestive system	5071	PRKN	ORPHA:2828
HP:0025031	Abnormality of the digestive system	59335	PRDM12	OMIM:616488
HP:0025031	Abnormality of the digestive system	55148	UBR7	OMIM:619189
HP:0025031	Abnormality of the digestive system	7407	VARS1	OMIM:617802
HP:0025031	Abnormality of the digestive system	8518	ELP1	ORPHA:1764
HP:0025031	Abnormality of the digestive system	629	CFB	OMIM:615561
HP:0025031	Abnormality of the digestive system	1991	ELANE	ORPHA:2686
HP:0025031	Abnormality of the digestive system	4868	NPHS1	ORPHA:656
HP:0025031	Abnormality of the digestive system	23607	CD2AP	ORPHA:656
HP:0025031	Abnormality of the digestive system	9688	NUP93	ORPHA:656
HP:0025031	Abnormality of the digestive system	4643	MYO1E	ORPHA:656
HP:0025031	Abnormality of the digestive system	64423	INF2	ORPHA:656
HP:0025031	Abnormality of the digestive system	26130	GAPVD1	ORPHA:656
HP:0025031	Abnormality of the digestive system	57122	NUP107	ORPHA:656
HP:0025031	Abnormality of the digestive system	51479	ANKFY1	ORPHA:656
HP:0025031	Abnormality of the digestive system	54443	ANLN	ORPHA:656
HP:0025031	Abnormality of the digestive system	5800	PTPRO	ORPHA:656
HP:0025031	Abnormality of the digestive system	286204	CRB2	ORPHA:656
HP:0025031	Abnormality of the digestive system	23165	NUP205	ORPHA:656
HP:0025031	Abnormality of the digestive system	2013	EMP2	ORPHA:656
HP:0025031	Abnormality of the digestive system	79023	NUP37	ORPHA:656
HP:0025031	Abnormality of the digestive system	51196	PLCE1	ORPHA:656
HP:0025031	Abnormality of the digestive system	79902	NUP85	ORPHA:656
HP:0025031	Abnormality of the digestive system	1285	COL4A3	ORPHA:656
HP:0025031	Abnormality of the digestive system	396	ARHGDIA	ORPHA:656
HP:0025031	Abnormality of the digestive system	79934	COQ8B	ORPHA:656
HP:0025031	Abnormality of the digestive system	23279	NUP160	ORPHA:656
HP:0025031	Abnormality of the digestive system	9863	MAGI2	ORPHA:656
HP:0025031	Abnormality of the digestive system	7225	TRPC6	ORPHA:656
HP:0025031	Abnormality of the digestive system	8542	APOL1	ORPHA:656
HP:0025031	Abnormality of the digestive system	54885	TBC1D8B	ORPHA:656
HP:0025031	Abnormality of the digestive system	7827	NPHS2	ORPHA:656
HP:0025031	Abnormality of the digestive system	83478	ARHGAP24	ORPHA:656
HP:0025031	Abnormality of the digestive system	23500	DAAM2	ORPHA:656
HP:0025031	Abnormality of the digestive system	5076	PAX2	ORPHA:656
HP:0025031	Abnormality of the digestive system	55746	NUP133	ORPHA:656
HP:0025031	Abnormality of the digestive system	9255	AIMP1	OMIM:260600
HP:0025031	Abnormality of the digestive system	5340	PLG	OMIM:217090
HP:0025031	Abnormality of the digestive system	5340	PLG	ORPHA:722
HP:0025031	Abnormality of the digestive system	26153	KIF26A	OMIM:620156
HP:0025031	Abnormality of the digestive system	23446	SLC44A1	OMIM:618868
HP:0025031	Abnormality of the digestive system	23503	ZFYVE26	OMIM:270700
HP:0025031	Abnormality of the digestive system	5354	PLP1	ORPHA:99015
HP:0025031	Abnormality of the digestive system	1399	CRKL	ORPHA:261330
HP:0025031	Abnormality of the digestive system	5594	MAPK1	ORPHA:261330
HP:0025031	Abnormality of the digestive system	79152	FA2H	ORPHA:171629
HP:0025031	Abnormality of the digestive system	28982	FLVCR1	ORPHA:88628
HP:0025031	Abnormality of the digestive system	339855	KY	OMIM:617114
HP:0025031	Abnormality of the digestive system	7415	VCP	ORPHA:329478
HP:0025031	Abnormality of the digestive system	2332	FMR1	ORPHA:93256
HP:0025031	Abnormality of the digestive system	2332	FMR1	OMIM:300623
HP:0025031	Abnormality of the digestive system	25778	DSTYK	ORPHA:101003
HP:0025031	Abnormality of the digestive system	6253	RTN2	ORPHA:100993
HP:0025031	Abnormality of the digestive system	51271	UBAP1	ORPHA:100993
HP:0025031	Abnormality of the digestive system	5654	HTRA1	OMIM:600142
HP:0025031	Abnormality of the digestive system	80217	CFAP43	OMIM:236690
HP:0025031	Abnormality of the digestive system	23400	ATP13A2	ORPHA:306674
HP:0025031	Abnormality of the digestive system	10528	NOP56	ORPHA:276198
HP:0025031	Abnormality of the digestive system	51256	TBC1D7	OMIM:248000
HP:0025031	Abnormality of the digestive system	10625	IVNS1ABP	OMIM:618969
HP:0025031	Abnormality of the digestive system	10908	PNPLA6	ORPHA:2377
HP:0025031	Abnormality of the digestive system	9657	IQCB1	ORPHA:3156
HP:0025031	Abnormality of the digestive system	27130	INVS	ORPHA:3156
HP:0025031	Abnormality of the digestive system	261734	NPHP4	ORPHA:3156
HP:0025031	Abnormality of the digestive system	22897	CEP164	ORPHA:3156
HP:0025031	Abnormality of the digestive system	11146	GLMN	ORPHA:83454
HP:0025031	Abnormality of the digestive system	9414	TJP2	OMIM:607748
HP:0025031	Abnormality of the digestive system	6555	SLC10A2	OMIM:613291
HP:0025031	Abnormality of the digestive system	5406	PNLIP	OMIM:614338
HP:0025031	Abnormality of the digestive system	51128	SAR1B	ORPHA:71
HP:0025031	Abnormality of the digestive system	51733	UPB1	OMIM:613161
HP:0025031	Abnormality of the digestive system	5053	PAH	ORPHA:2209
HP:0025031	Abnormality of the digestive system	7428	VHL	ORPHA:892
HP:0025031	Abnormality of the digestive system	7428	VHL	OMIM:193300
HP:0025031	Abnormality of the digestive system	1027	CDKN1B	ORPHA:652
HP:0025031	Abnormality of the digestive system	1026	CDKN1A	ORPHA:652
HP:0025031	Abnormality of the digestive system	1030	CDKN2B	ORPHA:652
HP:0025031	Abnormality of the digestive system	1030	CDKN2B	ORPHA:618
HP:0025031	Abnormality of the digestive system	1031	CDKN2C	ORPHA:652
HP:0025031	Abnormality of the digestive system	4854	NOTCH3	ORPHA:2591
HP:0025031	Abnormality of the digestive system	91	ACVR1B	OMIM:260350
HP:0025031	Abnormality of the digestive system	4089	SMAD4	OMIM:260350
HP:0025031	Abnormality of the digestive system	5892	RAD51D	ORPHA:145
HP:0025031	Abnormality of the digestive system	5728	PTEN	ORPHA:145
HP:0025031	Abnormality of the digestive system	10111	RAD50	ORPHA:145
HP:0025031	Abnormality of the digestive system	580	BARD1	ORPHA:145
HP:0025031	Abnormality of the digestive system	4683	NBN	ORPHA:145
HP:0025031	Abnormality of the digestive system	4361	MRE11	ORPHA:145
HP:0025031	Abnormality of the digestive system	2642	GCGR	ORPHA:438274
HP:0025031	Abnormality of the digestive system	8314	BAP1	ORPHA:618
HP:0025031	Abnormality of the digestive system	4286	MITF	ORPHA:618
HP:0025031	Abnormality of the digestive system	1019	CDK4	ORPHA:618
HP:0025031	Abnormality of the digestive system	4255	MGMT	ORPHA:618
HP:0025031	Abnormality of the digestive system	54386	TERF2IP	ORPHA:618
HP:0025031	Abnormality of the digestive system	4157	MC1R	ORPHA:618
HP:0025031	Abnormality of the digestive system	65057	ACD	ORPHA:618
HP:0025031	Abnormality of the digestive system	25913	POT1	ORPHA:618
HP:0025031	Abnormality of the digestive system	1188	CLCNKB	ORPHA:358
HP:0025031	Abnormality of the digestive system	6559	SLC12A3	ORPHA:358
HP:0025031	Abnormality of the digestive system	6690	SPINK1	OMIM:608189
HP:0025031	Abnormality of the digestive system	50940	PDE11A	ORPHA:1359
HP:0025031	Abnormality of the digestive system	65998	ZFTA	ORPHA:251636
HP:0025031	Abnormality of the digestive system	285282	RABL3	ORPHA:1333
HP:0025031	Abnormality of the digestive system	23022	PALLD	ORPHA:1333
HP:0025031	Abnormality of the digestive system	8930	MBD4	OMIM:619975
HP:0025031	Abnormality of the digestive system	4092	SMAD7	OMIM:612229
HP:0025031	Abnormality of the digestive system	3026	HABP2	ORPHA:319487
HP:0025031	Abnormality of the digestive system	79827	CLMP	OMIM:615237
HP:0025031	Abnormality of the digestive system	54808	DYM	OMIM:223800
HP:0025031	Abnormality of the digestive system	410	ARSA	ORPHA:309271
HP:0025031	Abnormality of the digestive system	410	ARSA	ORPHA:309263
HP:0025031	Abnormality of the digestive system	410	ARSA	ORPHA:309256
HP:0025031	Abnormality of the digestive system	26175	LYSET	OMIM:619345
HP:0025031	Abnormality of the digestive system	79867	TCTN2	OMIM:613885
HP:0025031	Abnormality of the digestive system	79770	TXNDC15	OMIM:619879
HP:0025031	Abnormality of the digestive system	10398	MYL9	OMIM:619365
HP:0025031	Abnormality of the digestive system	1811	SLC26A3	OMIM:214700
HP:0025031	Abnormality of the digestive system	5476	CTSA	OMIM:256540
HP:0025031	Abnormality of the digestive system	29110	TBK1	OMIM:620880
HP:0025031	Abnormality of the digestive system	6910	TBX5	OMIM:142900
HP:0025031	Abnormality of the digestive system	10815	CPLX1	ORPHA:280
HP:0025031	Abnormality of the digestive system	54872	PIGG	ORPHA:280
HP:0025031	Abnormality of the digestive system	7469	NELFA	ORPHA:280
HP:0025031	Abnormality of the digestive system	1487	CTBP1	ORPHA:280
HP:0025031	Abnormality of the digestive system	3954	LETM1	ORPHA:280
HP:0025031	Abnormality of the digestive system	90416	CCDC32	OMIM:619123
HP:0025031	Abnormality of the digestive system	168507	PKD1L1	OMIM:617205
HP:0025031	Abnormality of the digestive system	146845	CFAP52	OMIM:619607
HP:0025031	Abnormality of the digestive system	2302	FOXJ1	OMIM:618699
HP:0025031	Abnormality of the digestive system	220136	CFAP53	OMIM:614779
HP:0025031	Abnormality of the digestive system	79645	CLXN	OMIM:620642
HP:0025031	Abnormality of the digestive system	55997	CFC1	OMIM:605376
HP:0025031	Abnormality of the digestive system	84181	CHD6	ORPHA:2108
HP:0025031	Abnormality of the digestive system	164781	DAW1	OMIM:620570
HP:0025031	Abnormality of the digestive system	5648	MASP1	OMIM:257920
HP:0025031	Abnormality of the digestive system	1499	CTNNB1	ORPHA:873
HP:0025031	Abnormality of the digestive system	324	APC	ORPHA:873
HP:0025031	Abnormality of the digestive system	9469	CHST3	OMIM:245600
HP:0025031	Abnormality of the digestive system	26229	B3GAT3	OMIM:245600
HP:0025031	Abnormality of the digestive system	8239	USP9X	ORPHA:480880
HP:0025031	Abnormality of the digestive system	412	STS	ORPHA:281090
HP:0025031	Abnormality of the digestive system	3117	HLA-DQA1	OMIM:212750
HP:0025031	Abnormality of the digestive system	3119	HLA-DQB1	OMIM:212750
HP:0025031	Abnormality of the digestive system	6926	TBX3	ORPHA:3138
HP:0025031	Abnormality of the digestive system	5590	PRKCZ	ORPHA:1606
HP:0025031	Abnormality of the digestive system	2563	GABRD	ORPHA:1606
HP:0025031	Abnormality of the digestive system	23013	SPEN	ORPHA:1606
HP:0025031	Abnormality of the digestive system	8510	MMP23B	ORPHA:1606
HP:0025031	Abnormality of the digestive system	7798	LUZP1	ORPHA:1606
HP:0025031	Abnormality of the digestive system	6497	SKI	ORPHA:1606
HP:0025031	Abnormality of the digestive system	10630	PDPN	ORPHA:1606
HP:0025031	Abnormality of the digestive system	3339	HSPG2	ORPHA:1606
HP:0025031	Abnormality of the digestive system	10277	UBE4B	ORPHA:1606
HP:0025031	Abnormality of the digestive system	8514	KCNAB2	ORPHA:1606
HP:0025031	Abnormality of the digestive system	473	RERE	ORPHA:1606
HP:0025031	Abnormality of the digestive system	63976	PRDM16	ORPHA:1606
HP:0025031	Abnormality of the digestive system	54897	CASZ1	ORPHA:1606
HP:0025031	Abnormality of the digestive system	10225	CD96	ORPHA:1308
HP:0025031	Abnormality of the digestive system	55612	FERMT1	ORPHA:2908
HP:0025031	Abnormality of the digestive system	2313	FLI1	ORPHA:2308
HP:0025031	Abnormality of the digestive system	80144	FRAS1	OMIM:219000
HP:0025031	Abnormality of the digestive system	8626	TP63	ORPHA:93930
HP:0025031	Abnormality of the digestive system	3670	ISL1	ORPHA:93930
HP:0025031	Abnormality of the digestive system	1009	CDH11	OMIM:211380
HP:0025031	Abnormality of the digestive system	54539	NDUFB11	ORPHA:2556
HP:0025031	Abnormality of the digestive system	1349	COX7B	ORPHA:2556
HP:0025031	Abnormality of the digestive system	3052	HCCS	ORPHA:2556
HP:0025031	Abnormality of the digestive system	3909	LAMA3	ORPHA:79404
HP:0025031	Abnormality of the digestive system	3918	LAMC2	ORPHA:79404
HP:0025031	Abnormality of the digestive system	3914	LAMB3	ORPHA:79404
HP:0025031	Abnormality of the digestive system	1308	COL17A1	ORPHA:79406
HP:0025031	Abnormality of the digestive system	5336	PLCG2	OMIM:614878
HP:0025031	Abnormality of the digestive system	151648	SGO1	OMIM:616201
HP:0025031	Abnormality of the digestive system	205717	USF3	ORPHA:201
HP:0025031	Abnormality of the digestive system	100144748	KLLN	ORPHA:201
HP:0025031	Abnormality of the digestive system	91801	ALKBH8	OMIM:618504
HP:0025031	Abnormality of the digestive system	1131	CHRM3	OMIM:100100
HP:0025031	Abnormality of the digestive system	4437	MSH3	ORPHA:480536
HP:0025031	Abnormality of the digestive system	535	ATP6V0A1	OMIM:619971
HP:0025031	Abnormality of the digestive system	51608	GET4	OMIM:620200
HP:0025031	Abnormality of the digestive system	57589	RIC1	ORPHA:199306
HP:0025031	Abnormality of the digestive system	1739	DLG1	ORPHA:199306
HP:0025031	Abnormality of the digestive system	1748	DLX4	ORPHA:199306
HP:0025031	Abnormality of the digestive system	652	BMP4	ORPHA:199306
HP:0025031	Abnormality of the digestive system	22837	COBLL1	ORPHA:199306
HP:0025031	Abnormality of the digestive system	54848	ARHGEF38	ORPHA:199306
HP:0025031	Abnormality of the digestive system	9411	ARHGAP29	ORPHA:199306
HP:0025031	Abnormality of the digestive system	9244	CRLF1	ORPHA:930
HP:0025031	Abnormality of the digestive system	4842	NOS1	ORPHA:930
HP:0025031	Abnormality of the digestive system	3858	KRT10	ORPHA:312
HP:0025031	Abnormality of the digestive system	9881	TRANK1	ORPHA:33543
HP:0025031	Abnormality of the digestive system	221496	LEMD2	OMIM:619322
HP:0025031	Abnormality of the digestive system	3708	ITPR1	OMIM:117360
HP:0025031	Abnormality of the digestive system	79971	WLS	OMIM:619648
HP:0025031	Abnormality of the digestive system	816	CAMK2B	OMIM:617799
HP:0025031	Abnormality of the digestive system	57190	SELENON	ORPHA:2020
HP:0025031	Abnormality of the digestive system	58	ACTA1	ORPHA:2020
HP:0025031	Abnormality of the digestive system	3679	ITGA7	ORPHA:2020
HP:0025031	Abnormality of the digestive system	7169	TPM2	ORPHA:2020
HP:0025031	Abnormality of the digestive system	9200	HACD1	ORPHA:2020
HP:0025031	Abnormality of the digestive system	7170	TPM3	ORPHA:2020
HP:0025031	Abnormality of the digestive system	51776	MAP3K20	ORPHA:2020
HP:0025031	Abnormality of the digestive system	5238	PGM3	ORPHA:443811
HP:0025031	Abnormality of the digestive system	6304	SATB1	OMIM:619229
HP:0025031	Abnormality of the digestive system	3938	LCT	OMIM:223000
HP:0025031	Abnormality of the digestive system	4175	MCM6	OMIM:223100
HP:0025031	Abnormality of the digestive system	5321	PLA2G4A	OMIM:618372
HP:0025031	Abnormality of the digestive system	54361	WNT4	ORPHA:139466
HP:0025031	Abnormality of the digestive system	6728	SRP19	ORPHA:486
HP:0025031	Abnormality of the digestive system	2672	GFI1	ORPHA:486
HP:0025031	Abnormality of the digestive system	57379	AICDA	OMIM:605258
HP:0025031	Abnormality of the digestive system	29071	C1GALT1C1	OMIM:301110
HP:0025031	Abnormality of the digestive system	6891	TAP2	OMIM:620813
HP:0025031	Abnormality of the digestive system	50615	IL21R	OMIM:615207
HP:0025031	Abnormality of the digestive system	3718	JAK3	ORPHA:35078
HP:0025031	Abnormality of the digestive system	51703	ACSL5	OMIM:620357
HP:0025031	Abnormality of the digestive system	1723	DHODH	OMIM:263750
HP:0025031	Abnormality of the digestive system	488	ATP2A2	ORPHA:218
HP:0025031	Abnormality of the digestive system	2131	EXT1	ORPHA:321
HP:0025031	Abnormality of the digestive system	6905	TBCE	ORPHA:2323
HP:0025031	Abnormality of the digestive system	5317	PKP1	ORPHA:158668
HP:0025031	Abnormality of the digestive system	2694	CBLIF	OMIM:261000
HP:0025031	Abnormality of the digestive system	2161	F12	OMIM:610618
HP:0025031	Abnormality of the digestive system	407975	MIR17HG	ORPHA:391646
HP:0025031	Abnormality of the digestive system	8604	SLC25A12	OMIM:612949
HP:0025031	Abnormality of the digestive system	8974	P4HA2	ORPHA:397
HP:0025031	Abnormality of the digestive system	7010	TEK	ORPHA:1059
HP:0025031	Abnormality of the digestive system	3593	IL12B	ORPHA:3287
HP:0025031	Abnormality of the digestive system	6945	MLX	ORPHA:3287
HP:0025031	Abnormality of the digestive system	567	B2M	ORPHA:314652
HP:0025031	Abnormality of the digestive system	55605	KIF21A	ORPHA:994
HP:0025031	Abnormality of the digestive system	4927	NUP88	ORPHA:994
HP:0025031	Abnormality of the digestive system	7846	TUBA1A	ORPHA:994
HP:0025031	Abnormality of the digestive system	4654	MYOD1	ORPHA:994
HP:0025031	Abnormality of the digestive system	4593	MUSK	ORPHA:994
HP:0025031	Abnormality of the digestive system	285489	DOK7	ORPHA:994
HP:0025031	Abnormality of the digestive system	4126	MANBA	ORPHA:118
HP:0025031	Abnormality of the digestive system	83550	GPR101	ORPHA:963
HP:0025031	Abnormality of the digestive system	9049	AIP	ORPHA:963
HP:0025031	Abnormality of the digestive system	284252	KCTD1	ORPHA:2036
HP:0025031	Abnormality of the digestive system	388662	SLC6A17	ORPHA:457212
HP:0025031	Abnormality of the digestive system	2746	GLUD1	OMIM:606762
HP:0025031	Abnormality of the digestive system	80776	B9D2	OMIM:614175
HP:0025031	Abnormality of the digestive system	889	KRIT1	OMIM:116860
HP:0025031	Abnormality of the digestive system	6554	SLC10A1	OMIM:619256
HP:0025031	Abnormality of the digestive system	7201	TRHR	ORPHA:99832
HP:0025031	Abnormality of the digestive system	2688	GH1	OMIM:262400
HP:0025031	Abnormality of the digestive system	84314	TMEM107	ORPHA:564
HP:0025031	Abnormality of the digestive system	79600	TCTN1	ORPHA:564
HP:0025031	Abnormality of the digestive system	57096	RPGRIP1	ORPHA:564
HP:0025031	Abnormality of the digestive system	51259	TMEM216	ORPHA:564
HP:0025031	Abnormality of the digestive system	79583	TMEM231	ORPHA:564
HP:0025031	Abnormality of the digestive system	27077	B9D1	ORPHA:564
HP:0025031	Abnormality of the digestive system	4913	NTHL1	ORPHA:454840
HP:0025031	Abnormality of the digestive system	4913	NTHL1	OMIM:616415
HP:0025031	Abnormality of the digestive system	581	BAX	OMIM:114500
HP:0025031	Abnormality of the digestive system	25788	RAD54B	OMIM:114500
HP:0025031	Abnormality of the digestive system	5795	PTPRJ	OMIM:114500
HP:0025031	Abnormality of the digestive system	5157	PDGFRL	OMIM:114500
HP:0025031	Abnormality of the digestive system	1630	DCC	OMIM:114500
HP:0025031	Abnormality of the digestive system	10395	DLC1	OMIM:114500
HP:0025031	Abnormality of the digestive system	8313	AXIN2	OMIM:114500
HP:0025031	Abnormality of the digestive system	4163	MCC	OMIM:114500
HP:0025031	Abnormality of the digestive system	2261	FGFR3	OMIM:114500
HP:0025031	Abnormality of the digestive system	201163	FLCN	OMIM:114500
HP:0025031	Abnormality of the digestive system	7097	TLR2	OMIM:114500
HP:0025031	Abnormality of the digestive system	6714	SRC	OMIM:114500
HP:0025031	Abnormality of the digestive system	2033	EP300	OMIM:114500
HP:0025031	Abnormality of the digestive system	27030	MLH3	OMIM:114500
HP:0025031	Abnormality of the digestive system	5320	PLA2G2A	OMIM:114500
HP:0025031	Abnormality of the digestive system	6790	AURKA	OMIM:114500
HP:0025031	Abnormality of the digestive system	5782	PTPN12	OMIM:114500
HP:0025031	Abnormality of the digestive system	81704	DOCK8	ORPHA:217390
HP:0025031	Abnormality of the digestive system	343641	TGM6	OMIM:613908
HP:0025031	Abnormality of the digestive system	343641	TGM6	ORPHA:276193
HP:0025031	Abnormality of the digestive system	2583	B4GALNT1	ORPHA:101006
HP:0025031	Abnormality of the digestive system	6392	SDHD	OMIM:606864
HP:0025031	Abnormality of the digestive system	26585	GREM1	ORPHA:157794
HP:0025031	Abnormality of the digestive system	657	BMPR1A	ORPHA:157794
HP:0025031	Abnormality of the digestive system	7157	TP53	ORPHA:524
HP:0025031	Abnormality of the digestive system	1029	CDKN2A	ORPHA:524
HP:0025031	Abnormality of the digestive system	4193	MDM2	ORPHA:524
HP:0025031	Abnormality of the digestive system	11200	CHEK2	ORPHA:524
HP:0025031	Abnormality of the digestive system	389692	MAFA	OMIM:147630
HP:0025031	Abnormality of the digestive system	9131	AIFM1	ORPHA:238329
HP:0025031	Abnormality of the digestive system	199857	ALG14	OMIM:619036
HP:0025031	Abnormality of the digestive system	51399	TRAPPC4	OMIM:618741
HP:0025031	Abnormality of the digestive system	63908	NAPB	OMIM:620033
HP:0025031	Abnormality of the digestive system	56992	KIF15	ORPHA:261323
HP:0025031	Abnormality of the digestive system	274	BIN1	OMIM:255200
HP:0025031	Abnormality of the digestive system	170825	GSX2	OMIM:618646
HP:0025031	Abnormality of the digestive system	157680	VPS13B	OMIM:216550
HP:0025031	Abnormality of the digestive system	157680	VPS13B	ORPHA:193
HP:0025031	Abnormality of the digestive system	7386	UQCRFS1	OMIM:618775
HP:0025031	Abnormality of the digestive system	88	ACTN2	OMIM:618654
HP:0025031	Abnormality of the digestive system	51021	MRPS16	OMIM:610498
HP:0025031	Abnormality of the digestive system	5147	PDE6D	ORPHA:475
HP:0025031	Abnormality of the digestive system	5147	PDE6D	ORPHA:2754
HP:0025031	Abnormality of the digestive system	65250	CPLANE1	ORPHA:475
HP:0025031	Abnormality of the digestive system	65250	CPLANE1	ORPHA:2754
HP:0025031	Abnormality of the digestive system	9731	CEP104	ORPHA:475
HP:0025031	Abnormality of the digestive system	23247	KATNIP	ORPHA:475
HP:0025031	Abnormality of the digestive system	219854	TMEM218	ORPHA:475
HP:0025031	Abnormality of the digestive system	80210	ARMC9	ORPHA:475
HP:0025031	Abnormality of the digestive system	25776	CBY1	ORPHA:475
HP:0025031	Abnormality of the digestive system	403	ARL3	ORPHA:475
HP:0025031	Abnormality of the digestive system	10436	EMG1	ORPHA:1270
HP:0025031	Abnormality of the digestive system	4849	CNOT3	OMIM:618672
HP:0025031	Abnormality of the digestive system	200424	TET3	OMIM:618798
HP:0025031	Abnormality of the digestive system	644096	SDHAF1	ORPHA:3208
HP:0025031	Abnormality of the digestive system	22930	RAB3GAP1	ORPHA:1387
HP:0025031	Abnormality of the digestive system	84295	PHF6	ORPHA:127
HP:0025031	Abnormality of the digestive system	6567	SLC16A2	ORPHA:59
HP:0025031	Abnormality of the digestive system	6567	SLC16A2	OMIM:300523
HP:0025031	Abnormality of the digestive system	3329	HSPD1	OMIM:612233
HP:0025031	Abnormality of the digestive system	1291	COL6A1	OMIM:254090
HP:0025031	Abnormality of the digestive system	51728	POLR3K	OMIM:619310
HP:0025031	Abnormality of the digestive system	7314	UBB	ORPHA:101023
HP:0025031	Abnormality of the digestive system	57822	GRHL3	ORPHA:101023
HP:0025031	Abnormality of the digestive system	2073	ERCC5	ORPHA:1466
HP:0025031	Abnormality of the digestive system	128637	TBC1D20	OMIM:615663
HP:0025031	Abnormality of the digestive system	51241	COX16	OMIM:619355
HP:0025031	Abnormality of the digestive system	4337	MOCS1	OMIM:252150
HP:0025031	Abnormality of the digestive system	6452	SH3BP2	ORPHA:184
HP:0025031	Abnormality of the digestive system	90522	YIF1B	OMIM:619125
HP:0025031	Abnormality of the digestive system	1806	DPYD	ORPHA:1675
HP:0025031	Abnormality of the digestive system	55252	ASXL2	OMIM:617190
HP:0025031	Abnormality of the digestive system	2806	GOT2	OMIM:618721
HP:0025031	Abnormality of the digestive system	4848	CNOT2	OMIM:618608
HP:0025031	Abnormality of the digestive system	10210	TOPORS	ORPHA:2754
HP:0025031	Abnormality of the digestive system	317662	FAM149B1	ORPHA:2754
HP:0025031	Abnormality of the digestive system	2036	EPB41L1	OMIM:614257
HP:0025031	Abnormality of the digestive system	84148	KAT8	OMIM:618974
HP:0025031	Abnormality of the digestive system	57194	ATP10A	ORPHA:411515
HP:0025031	Abnormality of the digestive system	2000	ELF4	OMIM:301074
HP:0025031	Abnormality of the digestive system	3587	IL10RA	OMIM:613148
HP:0025031	Abnormality of the digestive system	4149	MAX	OMIM:620712
HP:0025031	Abnormality of the digestive system	3588	IL10RB	OMIM:612567
HP:0025031	Abnormality of the digestive system	29927	SEC61A1	OMIM:620674
HP:0025031	Abnormality of the digestive system	2317	FLNB	ORPHA:1263
HP:0025031	Abnormality of the digestive system	124583	CANT1	ORPHA:1425
HP:0025031	Abnormality of the digestive system	55790	CSGALNACT1	ORPHA:1425
HP:0025031	Abnormality of the digestive system	8643	PTCH2	ORPHA:377
HP:0025031	Abnormality of the digestive system	57061	HYMAI	ORPHA:96191
HP:0025031	Abnormality of the digestive system	5325	PLAGL1	ORPHA:96191
HP:0025031	Abnormality of the digestive system	5428	POLG	ORPHA:298
HP:0025031	Abnormality of the digestive system	1890	TYMP	ORPHA:298
HP:0025031	Abnormality of the digestive system	3980	LIG3	ORPHA:298
HP:0025031	Abnormality of the digestive system	50484	RRM2B	ORPHA:298
HP:0025031	Abnormality of the digestive system	6748	SSR4	ORPHA:370927
HP:0025031	Abnormality of the digestive system	595	CCND1	ORPHA:52416
HP:0025031	Abnormality of the digestive system	472	ATM	ORPHA:52416
HP:0025031	Abnormality of the digestive system	3492	IGH	ORPHA:52416
HP:0025031	Abnormality of the digestive system	92482	BBIP1	ORPHA:110
HP:0025031	Abnormality of the digestive system	80184	CEP290	ORPHA:110
HP:0025031	Abnormality of the digestive system	11020	IFT27	ORPHA:110
HP:0025031	Abnormality of the digestive system	582	BBS1	ORPHA:110
HP:0025031	Abnormality of the digestive system	49855	SCAPER	ORPHA:110
HP:0025031	Abnormality of the digestive system	4867	NPHP1	ORPHA:110
HP:0025031	Abnormality of the digestive system	51057	WDPCP	ORPHA:110
HP:0025031	Abnormality of the digestive system	132320	SCLT1	ORPHA:110
HP:0025031	Abnormality of the digestive system	27241	BBS9	ORPHA:110
HP:0025031	Abnormality of the digestive system	84984	CEP19	ORPHA:110
HP:0025031	Abnormality of the digestive system	22954	TRIM32	ORPHA:110
HP:0025031	Abnormality of the digestive system	54903	MKS1	ORPHA:110
HP:0025031	Abnormality of the digestive system	79738	BBS10	ORPHA:110
HP:0025031	Abnormality of the digestive system	123016	TTC8	ORPHA:110
HP:0025031	Abnormality of the digestive system	26160	IFT172	ORPHA:110
HP:0025031	Abnormality of the digestive system	583	BBS2	ORPHA:110
HP:0025031	Abnormality of the digestive system	585	BBS4	ORPHA:110
HP:0025031	Abnormality of the digestive system	8195	MKKS	ORPHA:110
HP:0025031	Abnormality of the digestive system	54585	LZTFL1	ORPHA:110
HP:0025031	Abnormality of the digestive system	55212	BBS7	ORPHA:110
HP:0025031	Abnormality of the digestive system	166379	BBS12	ORPHA:110
HP:0025031	Abnormality of the digestive system	10806	SDCCAG8	ORPHA:110
HP:0025031	Abnormality of the digestive system	157657	CFAP418	ORPHA:110
HP:0025031	Abnormality of the digestive system	84100	ARL6	ORPHA:110
HP:0025031	Abnormality of the digestive system	129880	BBS5	ORPHA:110
HP:0025031	Abnormality of the digestive system	80173	IFT74	ORPHA:110
HP:0025031	Abnormality of the digestive system	5925	RB1	ORPHA:1587
HP:0025031	Abnormality of the digestive system	5604	MAP2K1	ORPHA:1340
HP:0025031	Abnormality of the digestive system	5605	MAP2K2	ORPHA:1340
HP:0025031	Abnormality of the digestive system	3845	KRAS	ORPHA:1340
HP:0025031	Abnormality of the digestive system	673	BRAF	ORPHA:1340
HP:0025031	Abnormality of the digestive system	118429	ANTXR2	ORPHA:2176
HP:0025031	Abnormality of the digestive system	118429	ANTXR2	ORPHA:2028
HP:0025031	Abnormality of the digestive system	773	CACNA1A	ORPHA:2131
HP:0025031	Abnormality of the digestive system	6507	SLC1A3	ORPHA:2131
HP:0025031	Abnormality of the digestive system	477	ATP1A2	ORPHA:2131
HP:0025031	Abnormality of the digestive system	478	ATP1A3	ORPHA:2131
HP:0025031	Abnormality of the digestive system	6775	STAT4	ORPHA:93552
HP:0025031	Abnormality of the digestive system	6696	SPP1	ORPHA:93552
HP:0025031	Abnormality of the digestive system	6303	SAT1	ORPHA:93552
HP:0025031	Abnormality of the digestive system	3654	IRAK1	ORPHA:93552
HP:0025031	Abnormality of the digestive system	10195	ALG3	ORPHA:79321
HP:0025031	Abnormality of the digestive system	23126	POGZ	ORPHA:468678
HP:0025031	Abnormality of the digestive system	79053	ALG8	ORPHA:79325
HP:0025031	Abnormality of the digestive system	56052	ALG1	ORPHA:79327
HP:0025031	Abnormality of the digestive system	6794	STK11	ORPHA:2869
HP:0025031	Abnormality of the digestive system	2998	GYS2	ORPHA:2089
HP:0025031	Abnormality of the digestive system	25802	LMOD1	ORPHA:2241
HP:0025031	Abnormality of the digestive system	4629	MYH11	ORPHA:2241
HP:0025031	Abnormality of the digestive system	72	ACTG2	ORPHA:2241
HP:0025031	Abnormality of the digestive system	4638	MYLK	ORPHA:2241
HP:0025031	Abnormality of the digestive system	56244	BTNL2	ORPHA:797
HP:0025031	Abnormality of the digestive system	3123	HLA-DRB1	ORPHA:797
HP:0025031	Abnormality of the digestive system	134218	DNAJC21	ORPHA:811
HP:0025031	Abnormality of the digestive system	79631	EFL1	ORPHA:811
HP:0025031	Abnormality of the digestive system	51119	SBDS	ORPHA:811
HP:0025031	Abnormality of the digestive system	2248	FGF3	ORPHA:2791
HP:0025031	Abnormality of the digestive system	6868	ADAM17	ORPHA:294023
HP:0025031	Abnormality of the digestive system	1956	EGFR	ORPHA:294023
HP:0025031	Abnormality of the digestive system	5621	PRNP	ORPHA:280397
HP:0025031	Abnormality of the digestive system	4221	MEN1	ORPHA:99879
HP:0025031	Abnormality of the digestive system	9247	GCM2	ORPHA:99879
HP:0025031	Abnormality of the digestive system	79577	CDC73	ORPHA:99879
HP:0025031	Abnormality of the digestive system	2778	GNAS	ORPHA:94089
HP:0025031	Abnormality of the digestive system	2778	GNAS	ORPHA:79443
HP:0025031	Abnormality of the digestive system	2778	GNAS	ORPHA:79444
HP:0025031	Abnormality of the digestive system	8675	STX16	ORPHA:94089
HP:0025031	Abnormality of the digestive system	51008	ASCC1	OMIM:614266
HP:0025031	Abnormality of the digestive system	115908	CTHRC1	OMIM:614266
HP:0025031	Abnormality of the digestive system	4481	MSR1	OMIM:614266
HP:0025031	Abnormality of the digestive system	11178	LZTS1	OMIM:133239
HP:0025031	Abnormality of the digestive system	1351	COX8A	OMIM:619059
HP:0025031	Abnormality of the digestive system	8218	CLTCL1	ORPHA:453510
HP:0025031	Abnormality of the digestive system	84706	GPT2	ORPHA:477673
HP:0025031	Abnormality of the digestive system	23345	SYNE1	ORPHA:319332
HP:0025031	Abnormality of the digestive system	128869	PIGU	OMIM:618590
HP:0025031	Abnormality of the digestive system	253959	RALGAPA1	OMIM:618797
HP:0025031	Abnormality of the digestive system	7358	UGDH	OMIM:618792
HP:0025031	Abnormality of the digestive system	1185	CLCN6	OMIM:619173
HP:0025031	Abnormality of the digestive system	819	CAMLG	OMIM:620201
HP:0025031	Abnormality of the digestive system	5054	SERPINE1	ORPHA:465
HP:0025031	Abnormality of the digestive system	2159	F10	ORPHA:328
HP:0025031	Abnormality of the digestive system	1145	CHRNE	OMIM:608931
HP:0025031	Abnormality of the digestive system	1145	CHRNE	OMIM:616324
HP:0025031	Abnormality of the digestive system	2673	GFPT1	OMIM:608931
HP:0025031	Abnormality of the digestive system	340533	NEXMIF	OMIM:300912
HP:0025031	Abnormality of the digestive system	1144	CHRND	OMIM:616322
HP:0025031	Abnormality of the digestive system	1144	CHRND	OMIM:616323
HP:0025031	Abnormality of the digestive system	51569	UFM1	OMIM:617899
HP:0025031	Abnormality of the digestive system	5913	RAPSN	OMIM:616326
HP:0025031	Abnormality of the digestive system	6659	SOX4	OMIM:618506
HP:0025031	Abnormality of the digestive system	6659	SOX4	ORPHA:1465
HP:0025031	Abnormality of the digestive system	10059	DNM1L	OMIM:614388
HP:0025031	Abnormality of the digestive system	10059	DNM1L	ORPHA:98673
HP:0025031	Abnormality of the digestive system	5927	KDM5A	OMIM:620820
HP:0025031	Abnormality of the digestive system	80816	ASXL3	OMIM:615485
HP:0025031	Abnormality of the digestive system	387787	LIPT2	OMIM:617668
HP:0025031	Abnormality of the digestive system	65062	TMEM237	ORPHA:220497
HP:0025031	Abnormality of the digestive system	27245	AHDC1	ORPHA:412069
HP:0025031	Abnormality of the digestive system	1841	DTYMK	OMIM:619847
HP:0025031	Abnormality of the digestive system	54806	AHI1	ORPHA:220493
HP:0025031	Abnormality of the digestive system	95681	CEP41	ORPHA:220493
HP:0025031	Abnormality of the digestive system	55904	KMT2E	OMIM:618512
HP:0025031	Abnormality of the digestive system	84197	POMK	OMIM:615249
HP:0025031	Abnormality of the digestive system	24142	NAA80	OMIM:620830
HP:0025031	Abnormality of the digestive system	51112	TRAPPC12	OMIM:617669
HP:0025031	Abnormality of the digestive system	7343	UBTF	OMIM:617672
HP:0025031	Abnormality of the digestive system	3064	HTT	OMIM:617435
HP:0025031	Abnormality of the digestive system	2770	GNAI1	OMIM:619854
HP:0025031	Abnormality of the digestive system	4330	MN1	OMIM:618774
HP:0025031	Abnormality of the digestive system	8789	FBP2	OMIM:619864
HP:0025031	Abnormality of the digestive system	64121	RRAGC	OMIM:620609
HP:0025031	Abnormality of the digestive system	23327	NEDD4L	OMIM:617201
HP:0025031	Abnormality of the digestive system	790955	UQCC3	OMIM:616111
HP:0025031	Abnormality of the digestive system	51633	OTUD6B	OMIM:617452
HP:0025031	Abnormality of the digestive system	51633	OTUD6B	ORPHA:505237
HP:0025031	Abnormality of the digestive system	51692	CPSF3	OMIM:619876
HP:0025031	Abnormality of the digestive system	56947	MFF	ORPHA:485421
HP:0025031	Abnormality of the digestive system	2904	GRIN2B	OMIM:616139
HP:0025031	Abnormality of the digestive system	4285	MIPEP	OMIM:617228
HP:0025031	Abnormality of the digestive system	4208	MEF2C	ORPHA:228384
HP:0025031	Abnormality of the digestive system	4208	MEF2C	OMIM:613443
HP:0025031	Abnormality of the digestive system	6843	VAMP1	OMIM:618323
HP:0025031	Abnormality of the digestive system	6843	VAMP1	ORPHA:98914
HP:0025031	Abnormality of the digestive system	5917	RARS1	OMIM:616140
HP:0025031	Abnormality of the digestive system	197258	FCSK	OMIM:618324
HP:0025031	Abnormality of the digestive system	3798	KIF5A	OMIM:617235
HP:0025031	Abnormality of the digestive system	125988	MICOS13	OMIM:618329
HP:0025031	Abnormality of the digestive system	6572	SLC18A3	OMIM:617239
HP:0025031	Abnormality of the digestive system	6572	SLC18A3	ORPHA:98914
HP:0025031	Abnormality of the digestive system	23499	MACF1	OMIM:618325
HP:0025031	Abnormality of the digestive system	54148	MRPL39	OMIM:620646
HP:0025031	Abnormality of the digestive system	25970	SH2B1	ORPHA:261197
HP:0025031	Abnormality of the digestive system	10533	ATG7	OMIM:619422
HP:0025031	Abnormality of the digestive system	56160	NSMCE3	OMIM:617241
HP:0025031	Abnormality of the digestive system	5881	RAC3	OMIM:618577
HP:0025031	Abnormality of the digestive system	5813	PURA	OMIM:616158
HP:0025031	Abnormality of the digestive system	389827	MYMK	OMIM:254940
HP:0025031	Abnormality of the digestive system	1134	CHRNA1	OMIM:601462
HP:0025031	Abnormality of the digestive system	9488	PIGB	OMIM:618580
HP:0025031	Abnormality of the digestive system	84894	LINGO1	OMIM:618103
HP:0025031	Abnormality of the digestive system	56203	LMOD3	OMIM:616165
HP:0025031	Abnormality of the digestive system	56203	LMOD3	ORPHA:171436
HP:0025031	Abnormality of the digestive system	10765	KDM5B	OMIM:618109
HP:0025031	Abnormality of the digestive system	2495	FTH1	OMIM:620669
HP:0025031	Abnormality of the digestive system	92335	STRADA	ORPHA:500533
HP:0025031	Abnormality of the digestive system	92335	STRADA	OMIM:611087
HP:0025031	Abnormality of the digestive system	6418	SET	OMIM:618106
HP:0025031	Abnormality of the digestive system	2653	GCSH	OMIM:620423
HP:0025031	Abnormality of the digestive system	9526	MPDU1	OMIM:609180
HP:0025031	Abnormality of the digestive system	9526	MPDU1	ORPHA:79323
HP:0025031	Abnormality of the digestive system	4703	NEB	OMIM:256030
HP:0025031	Abnormality of the digestive system	4703	NEB	ORPHA:171436
HP:0025031	Abnormality of the digestive system	4703	NEB	ORPHA:171439
HP:0025031	Abnormality of the digestive system	3208	HPCA	ORPHA:99657
HP:0025031	Abnormality of the digestive system	7707	ZNF148	OMIM:617260
HP:0025031	Abnormality of the digestive system	55610	VPS50	OMIM:619685
HP:0025031	Abnormality of the digestive system	283989	TSEN54	OMIM:225753
HP:0025031	Abnormality of the digestive system	283989	TSEN54	ORPHA:2524
HP:0025031	Abnormality of the digestive system	23114	NFASC	OMIM:618356
HP:0025031	Abnormality of the digestive system	5649	RELN	ORPHA:89844
HP:0025031	Abnormality of the digestive system	10300	KATNB1	ORPHA:89844
HP:0025031	Abnormality of the digestive system	54820	NDE1	ORPHA:89844
HP:0025031	Abnormality of the digestive system	54820	NDE1	OMIM:614019
HP:0025031	Abnormality of the digestive system	23524	SRRM2	OMIM:620439
HP:0025031	Abnormality of the digestive system	25885	POLR1A	OMIM:620675
HP:0025031	Abnormality of the digestive system	3417	IDH1	ORPHA:99646
HP:0025031	Abnormality of the digestive system	29925	GMPPB	ORPHA:370968
HP:0025031	Abnormality of the digestive system	29925	GMPPB	OMIM:615350
HP:0025031	Abnormality of the digestive system	29925	GMPPB	OMIM:615351
HP:0025031	Abnormality of the digestive system	51132	RLIM	OMIM:300978
HP:0025031	Abnormality of the digestive system	10588	MTHFS	OMIM:618367
HP:0025031	Abnormality of the digestive system	6601	SMARCC2	OMIM:618362
HP:0025031	Abnormality of the digestive system	6601	SMARCC2	ORPHA:1465
HP:0025031	Abnormality of the digestive system	4052	LTBP1	OMIM:619451
HP:0025031	Abnormality of the digestive system	3376	IARS1	ORPHA:541423
HP:0025031	Abnormality of the digestive system	439	GET3	OMIM:620203
HP:0025031	Abnormality of the digestive system	3183	HNRNPC	OMIM:620688
HP:0025031	Abnormality of the digestive system	51102	MECR	OMIM:617282
HP:0025031	Abnormality of the digestive system	51102	MECR	ORPHA:508093
HP:0025031	Abnormality of the digestive system	3188	HNRNPH2	OMIM:300986
HP:0025031	Abnormality of the digestive system	84705	GTPBP3	OMIM:616198
HP:0025031	Abnormality of the digestive system	5332	PLCB4	OMIM:620458
HP:0025031	Abnormality of the digestive system	5332	PLCB4	ORPHA:137888
HP:0025031	Abnormality of the digestive system	5332	PLCB4	OMIM:614669
HP:0025031	Abnormality of the digestive system	594	BCKDHB	OMIM:620698
HP:0025031	Abnormality of the digestive system	79736	TEFM	OMIM:620451
HP:0025031	Abnormality of the digestive system	50801	KCNK4	OMIM:618381
HP:0025031	Abnormality of the digestive system	55975	KLHL7	OMIM:617055
HP:0025031	Abnormality of the digestive system	57187	THOC2	OMIM:300957
HP:0025031	Abnormality of the digestive system	10846	PDE10A	ORPHA:494526
HP:0025031	Abnormality of the digestive system	10846	PDE10A	OMIM:616921
HP:0025031	Abnormality of the digestive system	4762	NEUROG1	OMIM:620469
HP:0025031	Abnormality of the digestive system	8452	CUL3	OMIM:619239
HP:0025031	Abnormality of the digestive system	6050	RNH1	OMIM:620461
HP:0025031	Abnormality of the digestive system	10283	CWC27	ORPHA:166035
HP:0025031	Abnormality of the digestive system	10283	CWC27	OMIM:250410
HP:0025031	Abnormality of the digestive system	3181	HNRNPA2B1	OMIM:620460
HP:0025031	Abnormality of the digestive system	11198	SUPT16H	OMIM:619480
HP:0025031	Abnormality of the digestive system	283446	MYO1H	OMIM:619482
HP:0025031	Abnormality of the digestive system	7204	TRIO	OMIM:617061
HP:0025031	Abnormality of the digestive system	9325	TRIP4	OMIM:617066
HP:0025031	Abnormality of the digestive system	9325	TRIP4	ORPHA:486815
HP:0025031	Abnormality of the digestive system	60558	GUF1	OMIM:617065
HP:0025031	Abnormality of the digestive system	10660	LBX1	OMIM:619483
HP:0025031	Abnormality of the digestive system	84340	GFM2	OMIM:618397
HP:0025031	Abnormality of the digestive system	9373	PLAA	ORPHA:521426
HP:0025031	Abnormality of the digestive system	9373	PLAA	OMIM:617527
HP:0025031	Abnormality of the digestive system	57038	RARS2	OMIM:611523
HP:0025031	Abnormality of the digestive system	201595	STT3B	ORPHA:370924
HP:0025031	Abnormality of the digestive system	201595	STT3B	OMIM:615597
HP:0025031	Abnormality of the digestive system	5805	PTS	OMIM:261640
HP:0025031	Abnormality of the digestive system	5557	PRIM1	OMIM:620005
HP:0025031	Abnormality of the digestive system	11342	RNF13	ORPHA:544503
HP:0025031	Abnormality of the digestive system	9898	UBAP2L	OMIM:620494
HP:0025031	Abnormality of the digestive system	5393	EXOSC9	OMIM:618065
HP:0025031	Abnormality of the digestive system	5393	EXOSC9	ORPHA:2254
HP:0025031	Abnormality of the digestive system	80308	FLAD1	OMIM:255100
HP:0025031	Abnormality of the digestive system	246243	RNASEH1	ORPHA:329336
HP:0025031	Abnormality of the digestive system	7355	SLC35A2	ORPHA:356961
HP:0025031	Abnormality of the digestive system	781	CACNA2D1	OMIM:620149
HP:0025031	Abnormality of the digestive system	781	CACNA2D1	ORPHA:442835
HP:0025031	Abnormality of the digestive system	7138	TNNT1	OMIM:620389
HP:0025031	Abnormality of the digestive system	10667	FARS2	OMIM:614946
HP:0025031	Abnormality of the digestive system	51343	FZR1	OMIM:620145
HP:0025031	Abnormality of the digestive system	51343	FZR1	ORPHA:442835
HP:0025031	Abnormality of the digestive system	51506	UFC1	OMIM:618076
HP:0025031	Abnormality of the digestive system	57465	TBC1D24	ORPHA:352596
HP:0025031	Abnormality of the digestive system	57465	TBC1D24	ORPHA:79500
HP:0025031	Abnormality of the digestive system	57465	TBC1D24	OMIM:615338
HP:0025031	Abnormality of the digestive system	80055	PGAP1	OMIM:615802
HP:0025031	Abnormality of the digestive system	6662	SOX9	OMIM:114290
HP:0025031	Abnormality of the digestive system	29072	SETD2	OMIM:620157
HP:0025031	Abnormality of the digestive system	29072	SETD2	OMIM:620155
HP:0025031	Abnormality of the digestive system	771	CA12	OMIM:143860
HP:0025031	Abnormality of the digestive system	7175	TPR	OMIM:620393
HP:0025031	Abnormality of the digestive system	87178	PNPT1	ORPHA:319514
HP:0025031	Abnormality of the digestive system	1272	CNTN1	OMIM:612540
HP:0025031	Abnormality of the digestive system	114034	TOE1	OMIM:614969
HP:0025031	Abnormality of the digestive system	64087	MCCC2	OMIM:210210
HP:0025031	Abnormality of the digestive system	54675	CRLS1	OMIM:620167
HP:0025031	Abnormality of the digestive system	501	ALDH7A1	ORPHA:3006
HP:0025031	Abnormality of the digestive system	11212	PLPBP	ORPHA:3006
HP:0025031	Abnormality of the digestive system	23036	ZNF292	OMIM:619188
HP:0025031	Abnormality of the digestive system	1906	EDN1	ORPHA:137888
HP:0025031	Abnormality of the digestive system	2773	GNAI3	ORPHA:137888
HP:0025031	Abnormality of the digestive system	84947	SERAC1	OMIM:614739
HP:0025031	Abnormality of the digestive system	54496	PRMT7	ORPHA:464288
HP:0025031	Abnormality of the digestive system	54496	PRMT7	OMIM:617157
HP:0025031	Abnormality of the digestive system	6234	RPS28	OMIM:606164
HP:0025031	Abnormality of the digestive system	9653	HS2ST1	OMIM:619194
HP:0025031	Abnormality of the digestive system	3211	HOXB1	OMIM:614744
HP:0025031	Abnormality of the digestive system	25977	NECAP1	OMIM:615833
HP:0025031	Abnormality of the digestive system	25977	NECAP1	ORPHA:442835
HP:0025031	Abnormality of the digestive system	54499	TMCO1	OMIM:213980
HP:0025031	Abnormality of the digestive system	11128	POLR3A	OMIM:264090
HP:0025031	Abnormality of the digestive system	11128	POLR3A	ORPHA:3455
HP:0025031	Abnormality of the digestive system	55719	SLF2	OMIM:620184
HP:0025031	Abnormality of the digestive system	2255	FGF10	OMIM:620193
HP:0025031	Abnormality of the digestive system	79759	ZNF668	OMIM:620194
HP:0025031	Abnormality of the digestive system	1737	DLAT	OMIM:245348
HP:0025031	Abnormality of the digestive system	57459	GATAD2B	ORPHA:363686
HP:0025031	Abnormality of the digestive system	440138	ALG11	OMIM:613661
HP:0025031	Abnormality of the digestive system	440138	ALG11	ORPHA:280071
HP:0025031	Abnormality of the digestive system	10472	ZBTB18	OMIM:612337
HP:0025031	Abnormality of the digestive system	9440	MED17	OMIM:613668
HP:0025031	Abnormality of the digestive system	5048	PAFAH1B1	ORPHA:95232
HP:0025031	Abnormality of the digestive system	6314	ATXN7	ORPHA:94147
HP:0025031	Abnormality of the digestive system	22907	DHX30	OMIM:617804
HP:0025031	Abnormality of the digestive system	57724	EPG5	ORPHA:1493
HP:0025031	Abnormality of the digestive system	9230	RAB11B	OMIM:617807
HP:0025031	Abnormality of the digestive system	54704	PDP1	OMIM:608782
HP:0025031	Abnormality of the digestive system	55906	ZC4H2	OMIM:301041
HP:0025031	Abnormality of the digestive system	55906	ZC4H2	OMIM:314580
HP:0025031	Abnormality of the digestive system	1305	COL13A1	OMIM:616720
HP:0025031	Abnormality of the digestive system	1305	COL13A1	ORPHA:98914
HP:0025031	Abnormality of the digestive system	29123	ANKRD11	ORPHA:2332
HP:0025031	Abnormality of the digestive system	29123	ANKRD11	ORPHA:261250
HP:0025031	Abnormality of the digestive system	10229	COQ7	OMIM:616733
HP:0025031	Abnormality of the digestive system	54931	TRMT10C	OMIM:616974
HP:0025031	Abnormality of the digestive system	2782	GNB1	OMIM:616973
HP:0025031	Abnormality of the digestive system	2782	GNB1	ORPHA:488613
HP:0025031	Abnormality of the digestive system	83479	DDX59	OMIM:174300
HP:0025031	Abnormality of the digestive system	2561	GABRB2	OMIM:617829
HP:0025031	Abnormality of the digestive system	2561	GABRB2	ORPHA:442835
HP:0025031	Abnormality of the digestive system	90161	HS6ST2	OMIM:301025
HP:0025031	Abnormality of the digestive system	6597	SMARCA4	ORPHA:1465
HP:0025031	Abnormality of the digestive system	6597	SMARCA4	OMIM:614609
HP:0025031	Abnormality of the digestive system	8289	ARID1A	ORPHA:1465
HP:0025031	Abnormality of the digestive system	8289	ARID1A	OMIM:614607
HP:0025031	Abnormality of the digestive system	6602	SMARCD1	ORPHA:1465
HP:0025031	Abnormality of the digestive system	6664	SOX11	ORPHA:1465
HP:0025031	Abnormality of the digestive system	4915	NTRK2	OMIM:617830
HP:0025031	Abnormality of the digestive system	4915	NTRK2	ORPHA:442835
HP:0025031	Abnormality of the digestive system	80746	TSEN2	OMIM:612389
HP:0025031	Abnormality of the digestive system	80746	TSEN2	ORPHA:2524
HP:0025031	Abnormality of the digestive system	81620	CDT1	ORPHA:2554
HP:0025031	Abnormality of the digestive system	81620	CDT1	OMIM:613804
HP:0025031	Abnormality of the digestive system	5000	ORC4	ORPHA:2554
HP:0025031	Abnormality of the digestive system	5000	ORC4	OMIM:613800
HP:0025031	Abnormality of the digestive system	23594	ORC6	ORPHA:2554
HP:0025031	Abnormality of the digestive system	23594	ORC6	OMIM:613803
HP:0025031	Abnormality of the digestive system	990	CDC6	ORPHA:2554
HP:0025031	Abnormality of the digestive system	990	CDC6	OMIM:613805
HP:0025031	Abnormality of the digestive system	4998	ORC1	ORPHA:2554
HP:0025031	Abnormality of the digestive system	5422	POLA1	OMIM:301030
HP:0025031	Abnormality of the digestive system	10943	MSL3	OMIM:301032
HP:0025031	Abnormality of the digestive system	5723	PSPH	ORPHA:79350
HP:0025031	Abnormality of the digestive system	3868	KRT16	ORPHA:2309
HP:0025031	Abnormality of the digestive system	3872	KRT17	ORPHA:2309
HP:0025031	Abnormality of the digestive system	3853	KRT6A	ORPHA:2309
HP:0025031	Abnormality of the digestive system	3854	KRT6B	ORPHA:2309
HP:0025031	Abnormality of the digestive system	9343	EFTUD2	ORPHA:79113
HP:0025031	Abnormality of the digestive system	10664	CTCF	ORPHA:363611
HP:0025031	Abnormality of the digestive system	10664	CTCF	OMIM:615502
HP:0025031	Abnormality of the digestive system	8270	LAGE3	OMIM:301006
HP:0025031	Abnormality of the digestive system	81689	ISCA1	OMIM:617613
HP:0025031	Abnormality of the digestive system	1213	CLTC	OMIM:617854
HP:0025031	Abnormality of the digestive system	1213	CLTC	ORPHA:442835
HP:0025031	Abnormality of the digestive system	9894	TELO2	ORPHA:488642
HP:0025031	Abnormality of the digestive system	4329	ALDH6A1	OMIM:614105
HP:0025031	Abnormality of the digestive system	80152	CENPT	OMIM:618702
HP:0025031	Abnormality of the digestive system	8936	WASF1	OMIM:618707
HP:0025031	Abnormality of the digestive system	55617	TASP1	OMIM:618950
HP:0025031	Abnormality of the digestive system	116461	TSEN15	ORPHA:2524
HP:0025031	Abnormality of the digestive system	79042	TSEN34	ORPHA:2524
HP:0025031	Abnormality of the digestive system	51091	SEPSECS	ORPHA:2524
HP:0025031	Abnormality of the digestive system	2893	GRIA4	OMIM:617864
HP:0025031	Abnormality of the digestive system	60482	SLC5A7	ORPHA:98914
HP:0025031	Abnormality of the digestive system	60482	SLC5A7	OMIM:617143
HP:0025031	Abnormality of the digestive system	4649	MYO9A	ORPHA:98914
HP:0025031	Abnormality of the digestive system	4649	MYO9A	OMIM:618198
HP:0025031	Abnormality of the digestive system	1103	CHAT	ORPHA:98914
HP:0025031	Abnormality of the digestive system	375790	AGRN	ORPHA:98914
HP:0025031	Abnormality of the digestive system	127833	SYT2	ORPHA:98914
HP:0025031	Abnormality of the digestive system	6616	SNAP25	ORPHA:98914
HP:0025031	Abnormality of the digestive system	4038	LRP4	OMIM:616304
HP:0025031	Abnormality of the digestive system	10274	STAG1	OMIM:617635
HP:0025031	Abnormality of the digestive system	10274	STAG1	ORPHA:502434
HP:0025031	Abnormality of the digestive system	6261	RYR1	ORPHA:98905
HP:0025031	Abnormality of the digestive system	6261	RYR1	ORPHA:424107
HP:0025031	Abnormality of the digestive system	6261	RYR1	OMIM:117000
HP:0025031	Abnormality of the digestive system	71	ACTG1	ORPHA:2995
HP:0025031	Abnormality of the digestive system	5087	PBX1	OMIM:617641
HP:0025031	Abnormality of the digestive system	5087	PBX1	ORPHA:97362
HP:0025031	Abnormality of the digestive system	1140	CHRNB1	OMIM:616314
HP:0025031	Abnormality of the digestive system	3852	KRT5	ORPHA:79396
HP:0025031	Abnormality of the digestive system	3861	KRT14	ORPHA:79396
HP:0025031	Abnormality of the digestive system	246329	STAC3	OMIM:255995
HP:0025031	Abnormality of the digestive system	246329	STAC3	ORPHA:168572
HP:0025031	Abnormality of the digestive system	8036	SHOC2	OMIM:607721
HP:0025031	Abnormality of the digestive system	8367	H4C5	OMIM:619950
HP:0025031	Abnormality of the digestive system	104	ADARB1	OMIM:618862
HP:0025031	Abnormality of the digestive system	8294	H4C9	OMIM:619951
HP:0025031	Abnormality of the digestive system	8106	PABPN1	ORPHA:270
HP:0025031	Abnormality of the digestive system	3703	STT3A	OMIM:615596
HP:0025031	Abnormality of the digestive system	3703	STT3A	ORPHA:370921
HP:0025031	Abnormality of the digestive system	10054	UBA2	OMIM:619959
HP:0025031	Abnormality of the digestive system	51126	NAA20	OMIM:619717
HP:0025031	Abnormality of the digestive system	1355	COX15	OMIM:615119
HP:0025031	Abnormality of the digestive system	3008	H1-4	OMIM:617537
HP:0025031	Abnormality of the digestive system	84942	WDR73	OMIM:251300
HP:0025031	Abnormality of the digestive system	9786	KIAA0586	ORPHA:397715
HP:0025031	Abnormality of the digestive system	51111	KMT5B	OMIM:617788
HP:0025031	Abnormality of the digestive system	80155	NAA15	OMIM:617787
HP:0025031	Abnormality of the digestive system	6660	SOX5	ORPHA:313892
HP:0025031	Abnormality of the digestive system	55870	ASH1L	OMIM:617796
HP:0025031	Abnormality of the digestive system	9692	PRORP	OMIM:619737
HP:0025031	Abnormality of the digestive system	56172	ANKH	OMIM:123000
HP:0025031	Abnormality of the digestive system	9581	PREPL	OMIM:616224
HP:0025031	Abnormality of the digestive system	9326	ZNHIT3	ORPHA:2836
HP:0025031	Abnormality of the digestive system	1183	CLCN4	ORPHA:485350
HP:0025031	Abnormality of the digestive system	8560	DEGS1	OMIM:618404
HP:0025031	Abnormality of the digestive system	1656	DDX6	OMIM:618653
HP:0025031	Abnormality of the digestive system	4632	MYL1	OMIM:618414
HP:0025031	Abnormality of the digestive system	26057	ANKRD17	OMIM:619504
HP:0025031	Abnormality of the digestive system	79731	NARS2	OMIM:616239
HP:0025031	Abnormality of the digestive system	3737	KCNA2	ORPHA:442835
HP:0025031	Abnormality of the digestive system	8120	AP3B2	ORPHA:442835
HP:0025031	Abnormality of the digestive system	523	ATP6V1A	ORPHA:442835
HP:0025031	Abnormality of the digestive system	523	ATP6V1A	ORPHA:357074
HP:0025031	Abnormality of the digestive system	3747	KCNC2	ORPHA:442835
HP:0025031	Abnormality of the digestive system	3747	KCNC2	OMIM:619913
HP:0025031	Abnormality of the digestive system	1917	EEF1A2	ORPHA:442835
HP:0025031	Abnormality of the digestive system	23219	FBXO28	ORPHA:442835
HP:0025031	Abnormality of the digestive system	8831	SYNGAP1	ORPHA:442835
HP:0025031	Abnormality of the digestive system	2558	GABRA5	ORPHA:442835
HP:0025031	Abnormality of the digestive system	2906	GRIN2D	ORPHA:442835
HP:0025031	Abnormality of the digestive system	2906	GRIN2D	OMIM:617162
HP:0025031	Abnormality of the digestive system	116150	NUS1	ORPHA:442835
HP:0025031	Abnormality of the digestive system	23334	SZT2	ORPHA:442835
HP:0025031	Abnormality of the digestive system	348980	HCN1	ORPHA:442835
HP:0025031	Abnormality of the digestive system	23241	PACS2	ORPHA:442835
HP:0025031	Abnormality of the digestive system	6334	SCN8A	ORPHA:442835
HP:0025031	Abnormality of the digestive system	2555	GABRA2	ORPHA:442835
HP:0025031	Abnormality of the digestive system	55152	DALRD3	ORPHA:442835
HP:0025031	Abnormality of the digestive system	26999	CYFIP2	ORPHA:442835
HP:0025031	Abnormality of the digestive system	25973	PARS2	ORPHA:442835
HP:0025031	Abnormality of the digestive system	23097	CDK19	ORPHA:442835
HP:0025031	Abnormality of the digestive system	2257	FGF12	ORPHA:442835
HP:0025031	Abnormality of the digestive system	2257	FGF12	OMIM:617166
HP:0025031	Abnormality of the digestive system	5530	PPP3CA	ORPHA:442835
HP:0025031	Abnormality of the digestive system	5530	PPP3CA	OMIM:617711
HP:0025031	Abnormality of the digestive system	22906	TRAK1	ORPHA:442835
HP:0025031	Abnormality of the digestive system	2566	GABRG2	ORPHA:442835
HP:0025031	Abnormality of the digestive system	7532	YWHAG	ORPHA:442835
HP:0025031	Abnormality of the digestive system	79876	UBA5	ORPHA:442835
HP:0025031	Abnormality of the digestive system	79876	UBA5	OMIM:617132
HP:0025031	Abnormality of the digestive system	6328	SCN3A	ORPHA:442835
HP:0025031	Abnormality of the digestive system	10659	CELF2	ORPHA:442835
HP:0025031	Abnormality of the digestive system	774	CACNA1B	ORPHA:442835
HP:0025031	Abnormality of the digestive system	774	CACNA1B	OMIM:618497
HP:0025031	Abnormality of the digestive system	51412	ACTL6B	ORPHA:442835
HP:0025031	Abnormality of the digestive system	6506	SLC1A2	ORPHA:442835
HP:0025031	Abnormality of the digestive system	6506	SLC1A2	OMIM:617105
HP:0025031	Abnormality of the digestive system	3745	KCNB1	ORPHA:442835
HP:0025031	Abnormality of the digestive system	284111	SLC13A5	ORPHA:442835
HP:0025031	Abnormality of the digestive system	22866	CNKSR2	ORPHA:442835
HP:0025031	Abnormality of the digestive system	6323	SCN1A	ORPHA:442835
HP:0025031	Abnormality of the digestive system	55361	PI4K2A	OMIM:620732
HP:0025031	Abnormality of the digestive system	1182	CLCN3	OMIM:619512
HP:0025031	Abnormality of the digestive system	1182	CLCN3	OMIM:619517
HP:0025031	Abnormality of the digestive system	7862	BRPF1	OMIM:617333
HP:0025031	Abnormality of the digestive system	1660	DHX9	OMIM:620988
HP:0025031	Abnormality of the digestive system	8021	NUP214	OMIM:618426
HP:0025031	Abnormality of the digestive system	2643	GCH1	OMIM:233910
HP:0025031	Abnormality of the digestive system	415	ARSL	ORPHA:79345
HP:0025031	Abnormality of the digestive system	145258	GSC	OMIM:602471
HP:0025031	Abnormality of the digestive system	7750	ZMYM2	OMIM:619522
HP:0025031	Abnormality of the digestive system	51163	DBR1	OMIM:620510
HP:0025031	Abnormality of the digestive system	4626	MYH8	OMIM:158300
HP:0025031	Abnormality of the digestive system	10463	SLC30A9	OMIM:617595
HP:0025031	Abnormality of the digestive system	3785	KCNQ2	ORPHA:439218
HP:0025031	Abnormality of the digestive system	85459	CEP295	OMIM:620767
HP:0025031	Abnormality of the digestive system	79087	ALG12	ORPHA:79324
HP:0025031	Abnormality of the digestive system	79087	ALG12	OMIM:607143
HP:0025031	Abnormality of the digestive system	9896	FIG4	OMIM:216340
HP:0025031	Abnormality of the digestive system	27247	NFU1	OMIM:605711
HP:0025031	Abnormality of the digestive system	57505	AARS2	OMIM:614096
HP:0025031	Abnormality of the digestive system	1892	ECHS1	OMIM:616277
HP:0025031	Abnormality of the digestive system	51117	COQ4	OMIM:616276
HP:0025031	Abnormality of the digestive system	133686	NADK2	OMIM:616034
HP:0025031	Abnormality of the digestive system	3658	IREB2	OMIM:618451
HP:0025031	Abnormality of the digestive system	5587	PRKD1	OMIM:617364
HP:0025031	Abnormality of the digestive system	6857	SYT1	OMIM:618218
HP:0025031	Abnormality of the digestive system	6857	SYT1	ORPHA:522077
HP:0025031	Abnormality of the digestive system	78987	CRELD1	OMIM:620771
HP:0025031	Abnormality of the digestive system	6492	SIM1	ORPHA:369873
HP:0025031	Abnormality of the digestive system	30000	TNPO2	OMIM:619556
HP:0025031	Abnormality of the digestive system	54892	NCAPG2	OMIM:618460
HP:0025031	Abnormality of the digestive system	112	ADCY6	OMIM:616287
HP:0025031	Abnormality of the digestive system	11267	SNF8	OMIM:620783
HP:0025031	Abnormality of the digestive system	2581	GALC	ORPHA:206443
HP:0025031	Abnormality of the digestive system	2581	GALC	ORPHA:206436
HP:0025031	Abnormality of the digestive system	26275	HIBCH	ORPHA:88639
HP:0025031	Abnormality of the digestive system	26275	HIBCH	OMIM:250620
HP:0025031	Abnormality of the digestive system	29998	BICRA	OMIM:619325
HP:0025031	Abnormality of the digestive system	23314	SATB2	ORPHA:251019
HP:0025031	Abnormality of the digestive system	29968	PSAT1	OMIM:610992
HP:0025031	Abnormality of the digestive system	157922	CAMSAP1	OMIM:620316
HP:0025031	Abnormality of the digestive system	443	ASPA	ORPHA:314911
HP:0025031	Abnormality of the digestive system	9126	SMC3	OMIM:610759
HP:0025031	Abnormality of the digestive system	4976	OPA1	ORPHA:98673
HP:0025031	Abnormality of the digestive system	57551	TAOK1	OMIM:619575
HP:0025031	Abnormality of the digestive system	56915	EXOSC5	OMIM:619576
HP:0025031	Abnormality of the digestive system	2530	FUT8	OMIM:618005
HP:0025031	Abnormality of the digestive system	112939	NACC1	OMIM:617393
HP:0025031	Abnormality of the digestive system	7965	AIMP2	OMIM:618006
HP:0025031	Abnormality of the digestive system	29920	PYCR2	ORPHA:481152
HP:0025031	Abnormality of the digestive system	3913	LAMB2	OMIM:609049
HP:0025031	Abnormality of the digestive system	372	ARCN1	OMIM:617164
HP:0025031	Abnormality of the digestive system	3977	LIFR	OMIM:601559
HP:0025031	Abnormality of the digestive system	51305	KCNK9	ORPHA:166108
HP:0025031	Abnormality of the digestive system	91039	DPP9	OMIM:620331
HP:0025031	Abnormality of the digestive system	11340	EXOSC8	OMIM:616081
HP:0025031	Abnormality of the digestive system	11340	EXOSC8	ORPHA:2254
HP:0025031	Abnormality of the digestive system	3975	LHX1	ORPHA:261265
HP:0025031	Abnormality of the digestive system	6928	HNF1B	ORPHA:261265
HP:0025031	Abnormality of the digestive system	35	ACADS	OMIM:201470
HP:0025031	Abnormality of the digestive system	35	ACADS	ORPHA:26792
HP:0025031	Abnormality of the digestive system	6566	SLC16A1	OMIM:616095
HP:0025031	Abnormality of the digestive system	23287	AGTPBP1	OMIM:618276
HP:0025031	Abnormality of the digestive system	23287	AGTPBP1	ORPHA:2254
HP:0025031	Abnormality of the digestive system	23529	CLCF1	OMIM:610313
HP:0025031	Abnormality of the digestive system	23529	CLCF1	ORPHA:1545
HP:0025031	Abnormality of the digestive system	118924	FRA10AC1	OMIM:620113
HP:0025031	Abnormality of the digestive system	8911	CACNA1I	OMIM:620114
HP:0025031	Abnormality of the digestive system	2733	GLE1	OMIM:611890
HP:0025031	Abnormality of the digestive system	1583	CYP11A1	ORPHA:168558
HP:0025031	Abnormality of the digestive system	1583	CYP11A1	ORPHA:289548
HP:0025031	Abnormality of the digestive system	10295	BCKDK	OMIM:614923
HP:0025031	Abnormality of the digestive system	23299	BICD2	OMIM:618291
HP:0025031	Abnormality of the digestive system	4914	NTRK1	ORPHA:642
HP:0025031	Abnormality of the digestive system	27161	AGO2	OMIM:619149
HP:0025031	Abnormality of the digestive system	221927	BRAT1	OMIM:618056
HP:0025031	Abnormality of the digestive system	221927	BRAT1	OMIM:614498
HP:0025031	Abnormality of the digestive system	54938	SARS2	OMIM:613845
HP:0025031	Abnormality of the digestive system	90952	ESAM	OMIM:620371
HP:0025031	Abnormality of the digestive system	10128	LRPPRC	OMIM:220111
HP:0025031	Abnormality of the digestive system	58499	ZNF462	ORPHA:502430
HP:0025031	Abnormality of the digestive system	58499	ZNF462	OMIM:618619
HP:0025031	Abnormality of the digestive system	4534	MTM1	ORPHA:456328
HP:0025031	Abnormality of the digestive system	347734	SLC35B2	OMIM:620269
HP:0025031	Abnormality of the digestive system	1119	CHKA	OMIM:620023
HP:0025031	Abnormality of the digestive system	8496	PPFIBP1	OMIM:620024
HP:0025031	Abnormality of the digestive system	9690	UBE3C	OMIM:620270
HP:0025031	Abnormality of the digestive system	10324	KLHL41	ORPHA:171436
HP:0025031	Abnormality of the digestive system	10324	KLHL41	ORPHA:171439
HP:0025031	Abnormality of the digestive system	1073	CFL2	ORPHA:171436
HP:0025031	Abnormality of the digestive system	9442	MED27	OMIM:619286
HP:0025031	Abnormality of the digestive system	55163	PNPO	ORPHA:79096
HP:0025031	Abnormality of the digestive system	1340	COX6B1	OMIM:619051
HP:0025031	Abnormality of the digestive system	100131801	PET100	OMIM:619055
HP:0025031	Abnormality of the digestive system	9739	SETD1A	OMIM:619056
HP:0025031	Abnormality of the digestive system	93986	FOXP2	ORPHA:209908
HP:0025031	Abnormality of the digestive system	26523	AGO1	OMIM:620292
HP:0025031	Abnormality of the digestive system	4212	MEIS2	OMIM:600987
HP:0025031	Abnormality of the digestive system	4338	MOCS2	OMIM:252160
HP:0025031	Abnormality of the digestive system	5826	ABCD4	OMIM:614857
HP:0025031	Abnormality of the digestive system	1267	CNP	OMIM:619071
HP:0025031	Abnormality of the digestive system	51010	EXOSC3	ORPHA:2254
HP:0025031	Abnormality of the digestive system	51010	EXOSC3	OMIM:614678
HP:0025031	Abnormality of the digestive system	7443	VRK1	ORPHA:2254
HP:0025031	Abnormality of the digestive system	91137	SLC25A46	ORPHA:2254
HP:0025031	Abnormality of the digestive system	9289	ADGRG1	ORPHA:98889
HP:0025031	Abnormality of the digestive system	27286	SRPX2	ORPHA:98889
HP:0025031	Abnormality of the digestive system	83475	DOHH	OMIM:620066
HP:0025031	Abnormality of the digestive system	10236	HNRNPR	OMIM:620073
HP:0025031	Abnormality of the digestive system	51611	DPH5	OMIM:620070
HP:0025031	Abnormality of the digestive system	8905	AP1S2	ORPHA:85329
HP:0025031	Abnormality of the digestive system	6558	SLC12A2	OMIM:619080
HP:0025031	Abnormality of the digestive system	7025	NR2F1	OMIM:615722
HP:0025031	Abnormality of the digestive system	25828	TXN2	OMIM:616811
HP:0025031	Abnormality of the digestive system	3187	HNRNPH1	OMIM:620083
HP:0025031	Abnormality of the digestive system	390594	KBTBD13	ORPHA:171439
HP:0025031	Abnormality of the digestive system	55681	SCYL2	ORPHA:1143
HP:0025031	Abnormality of the digestive system	84570	COL25A1	ORPHA:1143
HP:0025031	Abnormality of the digestive system	57222	ERGIC1	ORPHA:1143
HP:0025031	Abnormality of the digestive system	9775	EIF4A3	OMIM:268305
HP:0025031	Abnormality of the digestive system	667	DST	OMIM:614653
HP:0025031	Abnormality of the digestive system	57017	COQ9	OMIM:614654
HP:0025031	Abnormality of the digestive system	57107	PDSS2	OMIM:614652
HP:0025031	Abnormality of the digestive system	29926	GMPPA	OMIM:615510
HP:0025031	Abnormality of the digestive system	85358	SHANK3	OMIM:606232
HP:0025031	Abnormality of the digestive system	113179	ADAT3	ORPHA:363528
HP:0025031	Abnormality of the digestive system	10157	AASS	ORPHA:2203
HP:0025031	Abnormality of the digestive system	9512	PMPCB	OMIM:617954
HP:0025031	Abnormality of the digestive system	10352	WARS2	OMIM:617710
HP:0025031	Abnormality of the digestive system	2058	EPRS1	OMIM:617951
HP:0025031	Abnormality of the digestive system	5160	PDHA1	ORPHA:79243
HP:0025031	Abnormality of the digestive system	5718	PSMD12	ORPHA:529962
HP:0025031	Abnormality of the digestive system	5718	PSMD12	OMIM:617516
HP:0025031	Abnormality of the digestive system	2186	BPTF	ORPHA:529962
HP:0025031	Abnormality of the digestive system	54664	TMEM106B	OMIM:617964
HP:0025031	Abnormality of the digestive system	112858	TP53RK	OMIM:617730
HP:0025031	Abnormality of the digestive system	11019	LIAS	OMIM:614462
HP:0025031	Abnormality of the digestive system	51501	HIKESHI	OMIM:616881
HP:0025031	Abnormality of the digestive system	3704	ITPA	OMIM:616647
HP:0025031	Abnormality of the digestive system	51124	IER3IP1	OMIM:614231
HP:0025031	Abnormality of the digestive system	54870	QRICH1	OMIM:617982
HP:0025031	Abnormality of the digestive system	4780	NFE2L2	OMIM:617744
HP:0025031	Abnormality of the digestive system	55704	CCDC88A	OMIM:617507
HP:0025031	Abnormality of the digestive system	5500	PPP1CB	OMIM:617506
HP:0025031	Abnormality of the digestive system	4841	NONO	ORPHA:466791
HP:0025031	Abnormality of the digestive system	95	ACY1	OMIM:609924
HP:0025031	Abnormality of the digestive system	529	ATP6V1E1	ORPHA:357074
HP:0025031	Abnormality of the digestive system	440	ASNS	OMIM:615574
HP:0025031	Abnormality of the digestive system	200205	IBA57	OMIM:615330
HP:0025031	Abnormality of the digestive system	84631	SLITRK2	OMIM:301107
HP:0025031	Abnormality of the digestive system	2890	GRIA1	OMIM:619931
HP:0025031	Abnormality of the digestive system	9439	MED23	OMIM:614249
HP:0025031	Abnormality of the digestive system	5430	POLR2A	OMIM:618603
HP:0025031	Abnormality of the digestive system	1585	CYP11B2	ORPHA:556030
HP:0025031	Abnormality of the digestive system	57731	SPTBN4	OMIM:617519
HP:0025031	Abnormality of the digestive system	18	ABAT	OMIM:613163
HP:0025031	Abnormality of the digestive system	92935	MARS2	OMIM:616430
HP:0025031	Abnormality of the digestive system	79587	CARS2	OMIM:616672
HP:0025031	Abnormality of the digestive system	4858	NOVA2	OMIM:618859
HP:0025031	Abnormality of the digestive system	25871	NEPRO	OMIM:618853
HP:0025031	Abnormality of the digestive system	9990	SLC12A6	OMIM:218000
HP:0025031	Abnormality of the digestive system	3081	HGD	ORPHA:56
HP:0025031	Abnormality of the digestive system	8462	KLF11	ORPHA:552
HP:0025031	Abnormality of the digestive system	2645	GCK	ORPHA:552
HP:0025031	Abnormality of the digestive system	26060	APPL1	ORPHA:552
HP:0025031	Abnormality of the digestive system	4760	NEUROD1	ORPHA:552
HP:0025031	Abnormality of the digestive system	3651	PDX1	ORPHA:552
HP:0025031	Abnormality of the digestive system	5078	PAX4	ORPHA:552
HP:0025031	Abnormality of the digestive system	3630	INS	ORPHA:552
HP:0025031	Abnormality of the digestive system	1356	CP	ORPHA:48818
HP:0025031	Abnormality of the digestive system	84818	IL17RC	ORPHA:1334
HP:0025031	Abnormality of the digestive system	64581	CLEC7A	ORPHA:1334
HP:0025031	Abnormality of the digestive system	23765	IL17RA	ORPHA:1334
HP:0025031	Abnormality of the digestive system	10758	TRAF3IP2	ORPHA:1334
HP:0025031	Abnormality of the digestive system	112744	IL17F	ORPHA:1334
HP:0025031	Abnormality of the digestive system	54	ACP5	ORPHA:1855
HP:0025031	Abnormality of the digestive system	3553	IL1B	OMIM:613659
HP:0025031	Abnormality of the digestive system	1316	KLF6	OMIM:613659
HP:0025031	Abnormality of the digestive system	23476	BRD4	ORPHA:443167
HP:0025031	Abnormality of the digestive system	256646	NUTM1	ORPHA:443167
HP:0025031	Abnormality of the digestive system	4069	LYZ	OMIM:620658
HP:0025031	Abnormality of the digestive system	4312	MMP1	ORPHA:79408
HP:0025031	Abnormality of the digestive system	1294	COL7A1	ORPHA:79408
HP:0025031	Abnormality of the digestive system	1294	COL7A1	ORPHA:89842
HP:0025031	Abnormality of the digestive system	3476	IGBP1	OMIM:300472
HP:0025031	Abnormality of the digestive system	6095	RORA	OMIM:618060
HP:0025031	Abnormality of the digestive system	7360	UGP2	OMIM:618744
HP:0025031	Abnormality of the digestive system	26115	TANC2	OMIM:618906
HP:0025031	Abnormality of the digestive system	100033413	SNORD116-1	OMIM:176270
HP:0025031	Abnormality of the digestive system	8924	HERC2	OMIM:176270
HP:0025031	Abnormality of the digestive system	23742	NPAP1	OMIM:176270
HP:0025031	Abnormality of the digestive system	338433	SNORD115-1	OMIM:176270
HP:0025031	Abnormality of the digestive system	7681	MKRN3	OMIM:176270
HP:0025031	Abnormality of the digestive system	145624	PWAR1	OMIM:176270
HP:0025031	Abnormality of the digestive system	3653	IPW	OMIM:176270
HP:0025031	Abnormality of the digestive system	791114	PWRN1	OMIM:176270
HP:0025031	Abnormality of the digestive system	28960	DCPS	OMIM:616459
HP:0025031	Abnormality of the digestive system	84188	FAR1	OMIM:619338
HP:0025031	Abnormality of the digestive system	9969	MED13	OMIM:618009
HP:0025031	Abnormality of the digestive system	84823	LMNB2	OMIM:619180
HP:0025031	Abnormality of the digestive system	55186	SLC25A36	OMIM:620211
HP:0025031	Abnormality of the digestive system	65109	UPF3B	OMIM:300676
HP:0025031	Abnormality of the digestive system	64321	SOX17	OMIM:613674
HP:0025031	Abnormality of the digestive system	7319	UBE2A	ORPHA:163956
HP:0025031	Abnormality of the digestive system	5062	PAK2	OMIM:618458
HP:0025031	Abnormality of the digestive system	4891	SLC11A2	OMIM:206100
HP:0025031	Abnormality of the digestive system	51604	PIGT	ORPHA:369837
HP:0025031	Abnormality of the digestive system	2260	FGFR1	ORPHA:220386
HP:0025031	Abnormality of the digestive system	2260	FGFR1	ORPHA:93924
HP:0025031	Abnormality of the digestive system	28514	DLL1	ORPHA:220386
HP:0025031	Abnormality of the digestive system	28514	DLL1	ORPHA:93926
HP:0025031	Abnormality of the digestive system	28514	DLL1	ORPHA:93924
HP:0025031	Abnormality of the digestive system	28514	DLL1	ORPHA:93925
HP:0025031	Abnormality of the digestive system	10735	STAG2	ORPHA:220386
HP:0025031	Abnormality of the digestive system	10735	STAG2	ORPHA:93925
HP:0025031	Abnormality of the digestive system	2253	FGF8	ORPHA:220386
HP:0025031	Abnormality of the digestive system	2253	FGF8	ORPHA:93926
HP:0025031	Abnormality of the digestive system	2253	FGF8	ORPHA:93924
HP:0025031	Abnormality of the digestive system	2253	FGF8	ORPHA:93925
HP:0025031	Abnormality of the digestive system	8243	SMC1A	ORPHA:220386
HP:0025031	Abnormality of the digestive system	6496	SIX3	ORPHA:220386
HP:0025031	Abnormality of the digestive system	6496	SIX3	ORPHA:93926
HP:0025031	Abnormality of the digestive system	6496	SIX3	ORPHA:93924
HP:0025031	Abnormality of the digestive system	6496	SIX3	ORPHA:93925
HP:0025031	Abnormality of the digestive system	7050	TGIF1	ORPHA:220386
HP:0025031	Abnormality of the digestive system	7050	TGIF1	ORPHA:93926
HP:0025031	Abnormality of the digestive system	7050	TGIF1	ORPHA:93924
HP:0025031	Abnormality of the digestive system	7050	TGIF1	ORPHA:93925
HP:0025031	Abnormality of the digestive system	4838	NODAL	ORPHA:220386
HP:0025031	Abnormality of the digestive system	4838	NODAL	ORPHA:93926
HP:0025031	Abnormality of the digestive system	4838	NODAL	ORPHA:93924
HP:0025031	Abnormality of the digestive system	4838	NODAL	ORPHA:93925
HP:0025031	Abnormality of the digestive system	6469	SHH	ORPHA:220386
HP:0025031	Abnormality of the digestive system	6469	SHH	ORPHA:93926
HP:0025031	Abnormality of the digestive system	6469	SHH	ORPHA:93924
HP:0025031	Abnormality of the digestive system	6469	SHH	ORPHA:93925
HP:0025031	Abnormality of the digestive system	7546	ZIC2	ORPHA:220386
HP:0025031	Abnormality of the digestive system	7546	ZIC2	ORPHA:93926
HP:0025031	Abnormality of the digestive system	7546	ZIC2	ORPHA:93924
HP:0025031	Abnormality of the digestive system	7546	ZIC2	ORPHA:93925
HP:0025031	Abnormality of the digestive system	6491	STIL	ORPHA:220386
HP:0025031	Abnormality of the digestive system	6491	STIL	ORPHA:93926
HP:0025031	Abnormality of the digestive system	6491	STIL	ORPHA:93924
HP:0025031	Abnormality of the digestive system	6491	STIL	ORPHA:93925
HP:0025031	Abnormality of the digestive system	2619	GAS1	ORPHA:220386
HP:0025031	Abnormality of the digestive system	2619	GAS1	ORPHA:93926
HP:0025031	Abnormality of the digestive system	2619	GAS1	ORPHA:93924
HP:0025031	Abnormality of the digestive system	2619	GAS1	ORPHA:93925
HP:0025031	Abnormality of the digestive system	84976	DISP1	ORPHA:220386
HP:0025031	Abnormality of the digestive system	84976	DISP1	ORPHA:93926
HP:0025031	Abnormality of the digestive system	84976	DISP1	ORPHA:93924
HP:0025031	Abnormality of the digestive system	84976	DISP1	ORPHA:93925
HP:0025031	Abnormality of the digestive system	2736	GLI2	ORPHA:220386
HP:0025031	Abnormality of the digestive system	2736	GLI2	ORPHA:93926
HP:0025031	Abnormality of the digestive system	2736	GLI2	ORPHA:93924
HP:0025031	Abnormality of the digestive system	2736	GLI2	ORPHA:93925
HP:0025031	Abnormality of the digestive system	8928	FOXH1	ORPHA:220386
HP:0025031	Abnormality of the digestive system	8928	FOXH1	ORPHA:93926
HP:0025031	Abnormality of the digestive system	8928	FOXH1	ORPHA:93924
HP:0025031	Abnormality of the digestive system	8928	FOXH1	ORPHA:93925
HP:0025031	Abnormality of the digestive system	6997	CRIPTO	ORPHA:220386
HP:0025031	Abnormality of the digestive system	6997	CRIPTO	ORPHA:93926
HP:0025031	Abnormality of the digestive system	6997	CRIPTO	ORPHA:93924
HP:0025031	Abnormality of the digestive system	6997	CRIPTO	ORPHA:93925
HP:0025031	Abnormality of the digestive system	5727	PTCH1	ORPHA:220386
HP:0025031	Abnormality of the digestive system	5727	PTCH1	ORPHA:93926
HP:0025031	Abnormality of the digestive system	5727	PTCH1	ORPHA:93924
HP:0025031	Abnormality of the digestive system	5727	PTCH1	ORPHA:93925
HP:0025031	Abnormality of the digestive system	50937	CDON	ORPHA:220386
HP:0025031	Abnormality of the digestive system	50937	CDON	ORPHA:93926
HP:0025031	Abnormality of the digestive system	50937	CDON	ORPHA:93924
HP:0025031	Abnormality of the digestive system	50937	CDON	ORPHA:93925
HP:0025031	Abnormality of the digestive system	4010	LMX1B	ORPHA:2614
HP:0025031	Abnormality of the digestive system	23007	PLCH1	ORPHA:93925
HP:0025031	Abnormality of the digestive system	4621	MYH3	ORPHA:2990
HP:0025031	Abnormality of the digestive system	1146	CHRNG	ORPHA:2990
HP:0025031	Abnormality of the digestive system	1288	COL4A6	ORPHA:1018
HP:0025031	Abnormality of the digestive system	1287	COL4A5	ORPHA:1018
HP:0025031	Abnormality of the digestive system	55209	SETD5	ORPHA:404440
HP:0025031	Abnormality of the digestive system	9401	RECQL4	ORPHA:221016
HP:0025031	Abnormality of the digestive system	215	ABCD1	ORPHA:388
HP:0025031	Abnormality of the digestive system	5979	RET	ORPHA:388
HP:0025031	Abnormality of the digestive system	2668	GDNF	ORPHA:388
HP:0025031	Abnormality of the digestive system	6608	SMO	ORPHA:388
HP:0025031	Abnormality of the digestive system	1889	ECE1	ORPHA:388
HP:0025031	Abnormality of the digestive system	6720	SREBF1	ORPHA:388
HP:0025031	Abnormality of the digestive system	1908	EDN3	ORPHA:388
HP:0025031	Abnormality of the digestive system	223117	SEMA3D	ORPHA:388
HP:0025031	Abnormality of the digestive system	538	ATP7A	ORPHA:388
HP:0025031	Abnormality of the digestive system	1910	EDNRB	ORPHA:388
HP:0025031	Abnormality of the digestive system	10512	SEMA3C	ORPHA:388
HP:0025031	Abnormality of the digestive system	2064	ERBB2	ORPHA:388
HP:0025031	Abnormality of the digestive system	2065	ERBB3	ORPHA:388
HP:0025031	Abnormality of the digestive system	4902	NRTN	ORPHA:388
HP:0025031	Abnormality of the digestive system	6792	CDKL5	ORPHA:3095
HP:0025031	Abnormality of the digestive system	22854	NTNG1	ORPHA:3095
HP:0025031	Abnormality of the digestive system	9568	GABBR2	ORPHA:3095
HP:0025031	Abnormality of the digestive system	4204	MECP2	ORPHA:3095
HP:0025031	Abnormality of the digestive system	7305	TYROBP	ORPHA:2770
HP:0025031	Abnormality of the digestive system	54209	TREM2	ORPHA:2770
HP:0025031	Abnormality of the digestive system	64682	ANAPC1	ORPHA:221008
HP:0025031	Abnormality of the digestive system	9935	MAFB	ORPHA:233
HP:0025031	Abnormality of the digestive system	1123	CHN1	ORPHA:233
HP:0025031	Abnormality of the digestive system	5205	ATP8B1	ORPHA:69665
HP:0025031	Abnormality of the digestive system	8647	ABCB11	ORPHA:69665
HP:0025031	Abnormality of the digestive system	5244	ABCB4	ORPHA:69665
HP:0025031	Abnormality of the digestive system	9971	NR1H4	ORPHA:69665
HP:0025031	Abnormality of the digestive system	27178	IL37	OMIM:619398
HP:0025031	Abnormality of the digestive system	64220	STRA6	ORPHA:2470
HP:0025031	Abnormality of the digestive system	7477	WNT7B	ORPHA:2470
HP:0025031	Abnormality of the digestive system	5915	RARB	ORPHA:2470
HP:0025031	Abnormality of the digestive system	2934	GSN	ORPHA:85448
HP:0025031	Abnormality of the digestive system	26525	IL36RN	OMIM:614204
HP:0025031	Abnormality of the digestive system	462	SERPINC1	ORPHA:82
HP:0025031	Abnormality of the digestive system	4194	MDM4	OMIM:618849
HP:0025031	Abnormality of the digestive system	89970	RSPRY1	ORPHA:457395
HP:0025031	Abnormality of the digestive system	56983	POGLUT1	ORPHA:79145
HP:0025031	Abnormality of the digestive system	23509	POFUT1	ORPHA:79145
HP:0025031	Abnormality of the digestive system	55851	PSENEN	ORPHA:79145
HP:0025031	Abnormality of the digestive system	3110	MNX1	ORPHA:1552
HP:0025031	Abnormality of the digestive system	9772	TMEM94	OMIM:618316
HP:0025031	Abnormality of the digestive system	126792	B3GALT6	OMIM:609465
HP:0025031	Abnormality of the digestive system	10379	IRF9	OMIM:618648
HP:0025031	Abnormality of the digestive system	5130	PCYT1A	OMIM:608940
HP:0025031	Abnormality of the digestive system	5376	PMP22	ORPHA:98916
HP:0025031	Abnormality of the digestive system	10755	GIPC1	ORPHA:98897
HP:0025031	Abnormality of the digestive system	23095	KIF1B	OMIM:256700
HP:0025031	Abnormality of the digestive system	5978	REST	ORPHA:654
HP:0025031	Abnormality of the digestive system	675	BRCA2	ORPHA:654
HP:0025031	Abnormality of the digestive system	10155	TRIM28	ORPHA:654
HP:0025031	Abnormality of the digestive system	11281	POU6F2	ORPHA:654
HP:0025031	Abnormality of the digestive system	2719	GPC3	ORPHA:654
HP:0025031	Abnormality of the digestive system	283120	H19	ORPHA:654
HP:0025031	Abnormality of the digestive system	4613	MYCN	ORPHA:635
HP:0025031	Abnormality of the digestive system	238	ALK	ORPHA:635
HP:0025031	Abnormality of the digestive system	389421	LIN28B	ORPHA:635
HP:0025031	Abnormality of the digestive system	4004	LMO1	ORPHA:635
HP:0025031	Abnormality of the digestive system	57531	HACE1	ORPHA:635
HP:0025031	Abnormality of the digestive system	8929	PHOX2B	ORPHA:635
HP:0025031	Abnormality of the digestive system	4665	NAB2	ORPHA:2126
HP:0025031	Abnormality of the digestive system	6778	STAT6	ORPHA:2126
HP:0025031	Abnormality of the digestive system	54919	DNAAF5	OMIM:614874
HP:0025031	Abnormality of the digestive system	4087	SMAD2	OMIM:619657
HP:0025031	Abnormality of the digestive system	100128908	CIROP	OMIM:619702
HP:0025031	Abnormality of the digestive system	83538	ODAD4	OMIM:617092
HP:0025031	Abnormality of the digestive system	2657	GDF1	OMIM:208530
HP:0025031	Abnormality of the digestive system	10095	ARPC1B	OMIM:617718
HP:0025031	Abnormality of the digestive system	84342	COG8	OMIM:611182
HP:0025031	Abnormality of the digestive system	54101	RIPK4	OMIM:263650
HP:0025031	Abnormality of the digestive system	5970	RELA	OMIM:618287
HP:0025031	Abnormality of the digestive system	404672	GTF2H5	OMIM:616395
HP:0025031	Abnormality of the digestive system	6730	SRP68	OMIM:620534
HP:0025031	Abnormality of the digestive system	8547	FCN3	OMIM:613860
HP:0025031	Abnormality of the digestive system	5700	PSMC1	OMIM:620071
HP:0025031	Abnormality of the digestive system	9578	CDC42BPB	OMIM:619841
HP:0025031	Abnormality of the digestive system	56479	KCNQ5	OMIM:617601
HP:0025031	Abnormality of the digestive system	93	ACVR2B	OMIM:613751
HP:0025031	Abnormality of the digestive system	55033	FKBP14	OMIM:614557
HP:0025031	Abnormality of the digestive system	2550	GABBR1	OMIM:620502
HP:0025031	Abnormality of the digestive system	6138	RPL15	ORPHA:124
HP:0025031	Abnormality of the digestive system	6165	RPL35A	ORPHA:124
HP:0025031	Abnormality of the digestive system	6132	RPL8	ORPHA:124
HP:0025031	Abnormality of the digestive system	6223	RPS19	ORPHA:124
HP:0025031	Abnormality of the digestive system	6232	RPS27	ORPHA:124
HP:0025031	Abnormality of the digestive system	6160	RPL31	ORPHA:124
HP:0025031	Abnormality of the digestive system	6201	RPS7	ORPHA:124
HP:0025031	Abnormality of the digestive system	6155	RPL27	ORPHA:124
HP:0025031	Abnormality of the digestive system	6229	RPS24	ORPHA:124
HP:0025031	Abnormality of the digestive system	6125	RPL5	ORPHA:124
HP:0025031	Abnormality of the digestive system	6204	RPS10	ORPHA:124
HP:0025031	Abnormality of the digestive system	6133	RPL9	ORPHA:124
HP:0025031	Abnormality of the digestive system	11224	RPL35	ORPHA:124
HP:0025031	Abnormality of the digestive system	6218	RPS17	ORPHA:124
HP:0025031	Abnormality of the digestive system	6154	RPL26	ORPHA:124
HP:0025031	Abnormality of the digestive system	6210	RPS15A	ORPHA:124
HP:0025031	Abnormality of the digestive system	90121	TSR2	ORPHA:124
HP:0025031	Abnormality of the digestive system	6141	RPL18	ORPHA:124
HP:0025031	Abnormality of the digestive system	6235	RPS29	ORPHA:124
HP:0025031	Abnormality of the digestive system	8379	MAD1L1	OMIM:620189
HP:0025031	Abnormality of the digestive system	55037	PTCD3	OMIM:619057
HP:0025031	Abnormality of the digestive system	57520	HECW2	OMIM:617268
HP:0025031	Abnormality of the digestive system	113189	CHST14	ORPHA:2953
HP:0025031	Abnormality of the digestive system	29940	DSE	ORPHA:2953
HP:0025031	Abnormality of the digestive system	493856	CISD2	ORPHA:3463
HP:0025031	Abnormality of the digestive system	7466	WFS1	ORPHA:3463
HP:0025031	Abnormality of the digestive system	161742	SPRED1	ORPHA:137605
HP:0025031	Abnormality of the digestive system	10747	MASP2	OMIM:613791
HP:0025031	Abnormality of the digestive system	29775	CARD10	OMIM:619632
HP:0025031	Abnormality of the digestive system	55765	INAVA	OMIM:618077
HP:0025031	Abnormality of the digestive system	96459	FNIP1	OMIM:619705
HP:0025031	Abnormality of the digestive system	51135	IRAK4	OMIM:607676
HP:0025031	Abnormality of the digestive system	3501	IGHG2	ORPHA:183675
HP:0025031	Abnormality of the digestive system	1075	CTSC	ORPHA:678
HP:0025031	Abnormality of the digestive system	5774	PTPN3	ORPHA:70567
HP:0025031	Abnormality of the digestive system	6098	ROS1	ORPHA:70567
HP:0025031	Abnormality of the digestive system	54894	RNF43	ORPHA:157798
HP:0025031	Abnormality of the digestive system	5297	PI4KA	ORPHA:436252
HP:0025031	Abnormality of the digestive system	57217	TTC7A	ORPHA:436252
HP:0025031	Abnormality of the digestive system	6135	RPL11	OMIM:612562
HP:0025031	Abnormality of the digestive system	146206	CARMIL2	OMIM:618131
HP:0025031	Abnormality of the digestive system	1281	COL3A1	OMIM:130050
HP:0025031	Abnormality of the digestive system	1281	COL3A1	ORPHA:286
HP:0025031	Abnormality of the digestive system	4088	SMAD3	OMIM:613795
HP:0025031	Abnormality of the digestive system	10804	GJB6	ORPHA:477
HP:0025031	Abnormality of the digestive system	2706	GJB2	ORPHA:477
HP:0025031	Abnormality of the digestive system	4000	LMNA	ORPHA:79474
HP:0025031	Abnormality of the digestive system	7486	WRN	ORPHA:902
HP:0025031	Abnormality of the digestive system	5324	PLAG1	OMIM:181030
HP:0025031	Abnormality of the digestive system	4763	NF1	ORPHA:97685
HP:0025031	Abnormality of the digestive system	641	BLM	ORPHA:125
HP:0025031	Abnormality of the digestive system	7373	COL14A1	ORPHA:79501
HP:0025031	Abnormality of the digestive system	79719	AAGAB	ORPHA:79501
HP:0025031	Abnormality of the digestive system	220296	HEPACAM	ORPHA:210548
HP:0025031	Abnormality of the digestive system	9817	KEAP1	ORPHA:276399
HP:0025031	Abnormality of the digestive system	6515	SLC2A3	ORPHA:399
HP:0025031	Abnormality of the digestive system	222663	SCUBE3	OMIM:619184
HP:0025031	Abnormality of the digestive system	745	MYRF	OMIM:618280
HP:0025032	Abnormality of digestive system physiology	6309	SC5D	ORPHA:46059
HP:0025032	Abnormality of digestive system physiology	2632	GBE1	OMIM:232500
HP:0025032	Abnormality of digestive system physiology	4068	SH2D1A	OMIM:308240
HP:0025032	Abnormality of digestive system physiology	54658	UGT1A1	OMIM:143500
HP:0025032	Abnormality of digestive system physiology	51473	DCDC2	OMIM:617394
HP:0025032	Abnormality of digestive system physiology	5105	PCK1	OMIM:261680
HP:0025032	Abnormality of digestive system physiology	6811	STX5	OMIM:620454
HP:0025032	Abnormality of digestive system physiology	788	SLC25A20	ORPHA:159
HP:0025032	Abnormality of digestive system physiology	8241	RBM10	OMIM:311900
HP:0025032	Abnormality of digestive system physiology	570	BAAT	OMIM:619232
HP:0025032	Abnormality of digestive system physiology	378884	NHLRC1	ORPHA:501
HP:0025032	Abnormality of digestive system physiology	7957	EPM2A	ORPHA:501
HP:0025032	Abnormality of digestive system physiology	7957	EPM2A	OMIM:254780
HP:0025032	Abnormality of digestive system physiology	5106	PCK2	OMIM:261650
HP:0025032	Abnormality of digestive system physiology	28976	ACAD9	OMIM:611126
HP:0025032	Abnormality of digestive system physiology	9076	CLDN1	OMIM:607626
HP:0025032	Abnormality of digestive system physiology	29960	MRM2	OMIM:618567
HP:0025032	Abnormality of digestive system physiology	84317	CCDC115	OMIM:616828
HP:0025032	Abnormality of digestive system physiology	28962	OSTM1	OMIM:259720
HP:0025032	Abnormality of digestive system physiology	5825	ABCD3	OMIM:616278
HP:0025032	Abnormality of digestive system physiology	57410	SCYL1	OMIM:616719
HP:0025032	Abnormality of digestive system physiology	10159	ATP6AP2	OMIM:301045
HP:0025032	Abnormality of digestive system physiology	4570	MT-TN	OMIM:220110
HP:0025032	Abnormality of digestive system physiology	6834	SURF1	OMIM:220110
HP:0025032	Abnormality of digestive system physiology	84334	COA8	ORPHA:436271
HP:0025032	Abnormality of digestive system physiology	56052	ALG1	ORPHA:79327
HP:0025032	Abnormality of digestive system physiology	5551	PRF1	ORPHA:540
HP:0025032	Abnormality of digestive system physiology	8676	STX11	ORPHA:540
HP:0025032	Abnormality of digestive system physiology	201294	UNC13D	ORPHA:540
HP:0025032	Abnormality of digestive system physiology	6813	STXBP2	ORPHA:540
HP:0025032	Abnormality of digestive system physiology	22796	COG2	ORPHA:435934
HP:0025032	Abnormality of digestive system physiology	23395	LARS2	OMIM:617021
HP:0025032	Abnormality of digestive system physiology	7385	UQCRC2	OMIM:615160
HP:0025032	Abnormality of digestive system physiology	51601	LIPT1	OMIM:616299
HP:0025032	Abnormality of digestive system physiology	55278	QRSL1	OMIM:618835
HP:0025032	Abnormality of digestive system physiology	644	BLVRA	OMIM:614156
HP:0025032	Abnormality of digestive system physiology	51649	MRPS23	OMIM:618952
HP:0025032	Abnormality of digestive system physiology	100506658	OCLN	OMIM:251290
HP:0025032	Abnormality of digestive system physiology	283459	GATC	OMIM:618839
HP:0025032	Abnormality of digestive system physiology	617	BCS1L	OMIM:124000
HP:0025032	Abnormality of digestive system physiology	2954	GSTZ1	OMIM:617596
HP:0025032	Abnormality of digestive system physiology	130589	GALM	ORPHA:570422
HP:0025032	Abnormality of digestive system physiology	147007	TMEM199	OMIM:616829
HP:0025032	Abnormality of digestive system physiology	1130	LYST	ORPHA:167
HP:0025032	Abnormality of digestive system physiology	23193	GANAB	OMIM:600666
HP:0025032	Abnormality of digestive system physiology	55532	SLC30A10	OMIM:613280
HP:0025032	Abnormality of digestive system physiology	8772	FADD	ORPHA:306550
HP:0025032	Abnormality of digestive system physiology	6888	TALDO1	OMIM:606003
HP:0025032	Abnormality of digestive system physiology	2235	FECH	ORPHA:79278
HP:0025032	Abnormality of digestive system physiology	56244	BTNL2	ORPHA:797
HP:0025032	Abnormality of digestive system physiology	267010	RNU12	ORPHA:512260
HP:0025032	Abnormality of digestive system physiology	1594	CYP27B1	ORPHA:289157
HP:0025032	Abnormality of digestive system physiology	1594	CYP27B1	OMIM:264700
HP:0025032	Abnormality of digestive system physiology	120227	CYP2R1	ORPHA:289157
HP:0025032	Abnormality of digestive system physiology	579	NKX3-2	OMIM:613330
HP:0025032	Abnormality of digestive system physiology	22947	DUX4L1	ORPHA:269
HP:0025032	Abnormality of digestive system physiology	2483	FRG1	ORPHA:269
HP:0025032	Abnormality of digestive system physiology	23347	SMCHD1	ORPHA:269
HP:0025032	Abnormality of digestive system physiology	100288687	DUX4	ORPHA:269
HP:0025032	Abnormality of digestive system physiology	23405	DICER1	OMIM:618272
HP:0025032	Abnormality of digestive system physiology	3636	INPPL1	OMIM:258480
HP:0025032	Abnormality of digestive system physiology	51098	IFT52	OMIM:617102
HP:0025032	Abnormality of digestive system physiology	23169	SLC35D1	OMIM:269250
HP:0025032	Abnormality of digestive system physiology	79158	GNPTAB	OMIM:252500
HP:0025032	Abnormality of digestive system physiology	79158	GNPTAB	ORPHA:576
HP:0025032	Abnormality of digestive system physiology	2990	GUSB	OMIM:253220
HP:0025032	Abnormality of digestive system physiology	1302	COL11A2	OMIM:614524
HP:0025032	Abnormality of digestive system physiology	55764	IFT122	OMIM:218330
HP:0025032	Abnormality of digestive system physiology	2317	FLNB	OMIM:108720
HP:0025032	Abnormality of digestive system physiology	5745	PTH1R	ORPHA:50945
HP:0025032	Abnormality of digestive system physiology	1301	COL11A1	OMIM:228520
HP:0025032	Abnormality of digestive system physiology	7421	VDR	OMIM:277440
HP:0025032	Abnormality of digestive system physiology	168667	BMPER	OMIM:608022
HP:0025032	Abnormality of digestive system physiology	4522	MTHFD1	OMIM:617780
HP:0025032	Abnormality of digestive system physiology	3284	HSD3B2	ORPHA:90791
HP:0025032	Abnormality of digestive system physiology	1716	DGUOK	OMIM:251880
HP:0025032	Abnormality of digestive system physiology	1277	COL1A1	ORPHA:287
HP:0025032	Abnormality of digestive system physiology	1289	COL5A1	ORPHA:287
HP:0025032	Abnormality of digestive system physiology	1290	COL5A2	ORPHA:287
HP:0025032	Abnormality of digestive system physiology	388962	BOLA3	OMIM:614299
HP:0025032	Abnormality of digestive system physiology	51594	NBAS	OMIM:616483
HP:0025032	Abnormality of digestive system physiology	166785	MMAA	OMIM:251100
HP:0025032	Abnormality of digestive system physiology	2099	ESR1	OMIM:157300
HP:0025032	Abnormality of digestive system physiology	7124	TNF	OMIM:157300
HP:0025032	Abnormality of digestive system physiology	8565	YARS1	OMIM:619418
HP:0025032	Abnormality of digestive system physiology	2161	F12	OMIM:610618
HP:0025032	Abnormality of digestive system physiology	56606	SLC2A9	ORPHA:94088
HP:0025032	Abnormality of digestive system physiology	116085	SLC22A12	ORPHA:94088
HP:0025032	Abnormality of digestive system physiology	4023	LPL	OMIM:238600
HP:0025032	Abnormality of digestive system physiology	3712	IVD	ORPHA:33
HP:0025032	Abnormality of digestive system physiology	3712	IVD	OMIM:243500
HP:0025032	Abnormality of digestive system physiology	2710	GK	OMIM:307030
HP:0025032	Abnormality of digestive system physiology	8869	ST3GAL5	OMIM:609056
HP:0025032	Abnormality of digestive system physiology	5903	RANBP2	ORPHA:88619
HP:0025032	Abnormality of digestive system physiology	4714	NDUFB8	OMIM:618252
HP:0025032	Abnormality of digestive system physiology	5019	OXCT1	OMIM:245050
HP:0025032	Abnormality of digestive system physiology	8086	AAAS	ORPHA:869
HP:0025032	Abnormality of digestive system physiology	50617	ATP6V0A4	OMIM:602722
HP:0025032	Abnormality of digestive system physiology	8942	KYNU	OMIM:236800
HP:0025032	Abnormality of digestive system physiology	65998	ZFTA	ORPHA:251636
HP:0025032	Abnormality of digestive system physiology	1591	CYP24A1	OMIM:143880
HP:0025032	Abnormality of digestive system physiology	84300	UQCC2	OMIM:615824
HP:0025032	Abnormality of digestive system physiology	56922	MCCC1	OMIM:210200
HP:0025032	Abnormality of digestive system physiology	7809	BSND	ORPHA:89938
HP:0025032	Abnormality of digestive system physiology	1187	CLCNKA	ORPHA:89938
HP:0025032	Abnormality of digestive system physiology	593	BCKDHA	OMIM:248600
HP:0025032	Abnormality of digestive system physiology	4519	MT-CYB	ORPHA:137675
HP:0025032	Abnormality of digestive system physiology	80704	SLC19A3	OMIM:607483
HP:0025032	Abnormality of digestive system physiology	3251	HPRT1	OMIM:300322
HP:0025032	Abnormality of digestive system physiology	4488	MSX2	ORPHA:60015
HP:0025032	Abnormality of digestive system physiology	60529	ALX4	ORPHA:60015
HP:0025032	Abnormality of digestive system physiology	1288	COL4A6	ORPHA:1018
HP:0025032	Abnormality of digestive system physiology	1287	COL4A5	ORPHA:1018
HP:0025032	Abnormality of digestive system physiology	55605	KIF21A	ORPHA:45358
HP:0025032	Abnormality of digestive system physiology	347733	TUBB2B	ORPHA:45358
HP:0025032	Abnormality of digestive system physiology	7846	TUBA1A	ORPHA:45358
HP:0025032	Abnormality of digestive system physiology	401	PHOX2A	ORPHA:45358
HP:0025032	Abnormality of digestive system physiology	10381	TUBB3	ORPHA:45358
HP:0025032	Abnormality of digestive system physiology	326625	MMAB	OMIM:251110
HP:0025032	Abnormality of digestive system physiology	2670	GFAP	ORPHA:363717
HP:0025032	Abnormality of digestive system physiology	2819	GPD1	OMIM:614480
HP:0025032	Abnormality of digestive system physiology	51081	MRPS7	OMIM:617872
HP:0025032	Abnormality of digestive system physiology	1537	CYC1	OMIM:615453
HP:0025032	Abnormality of digestive system physiology	8139	GAN	OMIM:256850
HP:0025032	Abnormality of digestive system physiology	2110	ETFDH	OMIM:231680
HP:0025032	Abnormality of digestive system physiology	2108	ETFA	OMIM:231680
HP:0025032	Abnormality of digestive system physiology	2109	ETFB	OMIM:231680
HP:0025032	Abnormality of digestive system physiology	5052	PRDX1	OMIM:277400
HP:0025032	Abnormality of digestive system physiology	27034	ACAD8	ORPHA:79159
HP:0025032	Abnormality of digestive system physiology	2582	GALE	OMIM:230350
HP:0025032	Abnormality of digestive system physiology	100	ADA	ORPHA:277
HP:0025032	Abnormality of digestive system physiology	100	ADA	OMIM:102700
HP:0025032	Abnormality of digestive system physiology	6335	SCN9A	OMIM:133020
HP:0025032	Abnormality of digestive system physiology	3561	IL2RG	ORPHA:276
HP:0025032	Abnormality of digestive system physiology	90268	OTULIN	OMIM:617099
HP:0025032	Abnormality of digestive system physiology	197322	ACSF3	OMIM:614265
HP:0025032	Abnormality of digestive system physiology	6809	STX3	ORPHA:2290
HP:0025032	Abnormality of digestive system physiology	4645	MYO5B	ORPHA:2290
HP:0025032	Abnormality of digestive system physiology	1493	CTLA4	ORPHA:436159
HP:0025032	Abnormality of digestive system physiology	1493	CTLA4	OMIM:616100
HP:0025032	Abnormality of digestive system physiology	4598	MVK	OMIM:260920
HP:0025032	Abnormality of digestive system physiology	4598	MVK	OMIM:610377
HP:0025032	Abnormality of digestive system physiology	4598	MVK	ORPHA:343
HP:0025032	Abnormality of digestive system physiology	26873	OPLAH	OMIM:260005
HP:0025032	Abnormality of digestive system physiology	1593	CYP27A1	OMIM:213700
HP:0025032	Abnormality of digestive system physiology	3815	KIT	ORPHA:98849
HP:0025032	Abnormality of digestive system physiology	3815	KIT	ORPHA:79455
HP:0025032	Abnormality of digestive system physiology	23417	MLYCD	OMIM:248360
HP:0025032	Abnormality of digestive system physiology	7253	TSHR	ORPHA:99819
HP:0025032	Abnormality of digestive system physiology	7253	TSHR	ORPHA:424
HP:0025032	Abnormality of digestive system physiology	1161	ERCC8	ORPHA:90321
HP:0025032	Abnormality of digestive system physiology	2072	ERCC4	ORPHA:90321
HP:0025032	Abnormality of digestive system physiology	2074	ERCC6	ORPHA:90321
HP:0025032	Abnormality of digestive system physiology	3074	HEXB	ORPHA:309162
HP:0025032	Abnormality of digestive system physiology	9051	PSTPIP1	OMIM:601979
HP:0025032	Abnormality of digestive system physiology	5651	TMPRSS15	OMIM:226200
HP:0025032	Abnormality of digestive system physiology	1644	DDC	ORPHA:35708
HP:0025032	Abnormality of digestive system physiology	1644	DDC	OMIM:608643
HP:0025032	Abnormality of digestive system physiology	790	CAD	OMIM:616457
HP:0025032	Abnormality of digestive system physiology	84936	ZFYVE19	OMIM:619849
HP:0025032	Abnormality of digestive system physiology	23474	ETHE1	ORPHA:51188
HP:0025032	Abnormality of digestive system physiology	3980	LIG3	ORPHA:298
HP:0025032	Abnormality of digestive system physiology	2212	FCGR2A	OMIM:219700
HP:0025032	Abnormality of digestive system physiology	3735	KARS1	ORPHA:3240
HP:0025032	Abnormality of digestive system physiology	81693	AMN	OMIM:618882
HP:0025032	Abnormality of digestive system physiology	6772	STAT1	OMIM:614162
HP:0025032	Abnormality of digestive system physiology	6772	STAT1	ORPHA:391487
HP:0025032	Abnormality of digestive system physiology	115650	TNFRSF13C	OMIM:240500
HP:0025032	Abnormality of digestive system physiology	29851	ICOS	OMIM:240500
HP:0025032	Abnormality of digestive system physiology	29851	ICOS	OMIM:607594
HP:0025032	Abnormality of digestive system physiology	930	CD19	OMIM:240500
HP:0025032	Abnormality of digestive system physiology	23495	TNFRSF13B	OMIM:240500
HP:0025032	Abnormality of digestive system physiology	1380	CR2	OMIM:240500
HP:0025032	Abnormality of digestive system physiology	4089	SMAD4	OMIM:174900
HP:0025032	Abnormality of digestive system physiology	3988	LIPA	OMIM:278000
HP:0025032	Abnormality of digestive system physiology	3988	LIPA	ORPHA:75234
HP:0025032	Abnormality of digestive system physiology	686	BTD	OMIM:253260
HP:0025032	Abnormality of digestive system physiology	3117	HLA-DQA1	OMIM:212750
HP:0025032	Abnormality of digestive system physiology	3119	HLA-DQB1	OMIM:212750
HP:0025032	Abnormality of digestive system physiology	55107	ANO1	OMIM:620045
HP:0025032	Abnormality of digestive system physiology	7276	TTR	OMIM:105210
HP:0025032	Abnormality of digestive system physiology	7276	TTR	ORPHA:85447
HP:0025032	Abnormality of digestive system physiology	28755	TRAC	OMIM:615387
HP:0025032	Abnormality of digestive system physiology	64127	NOD2	OMIM:617321
HP:0025032	Abnormality of digestive system physiology	64127	NOD2	OMIM:266600
HP:0025032	Abnormality of digestive system physiology	5728	PTEN	ORPHA:79076
HP:0025032	Abnormality of digestive system physiology	79053	ALG8	OMIM:608104
HP:0025032	Abnormality of digestive system physiology	79053	ALG8	ORPHA:79325
HP:0025032	Abnormality of digestive system physiology	1174	AP1S1	OMIM:609313
HP:0025032	Abnormality of digestive system physiology	5373	PMM2	OMIM:212065
HP:0025032	Abnormality of digestive system physiology	9056	SLC7A7	ORPHA:470
HP:0025032	Abnormality of digestive system physiology	9056	SLC7A7	OMIM:222700
HP:0025032	Abnormality of digestive system physiology	1621	DBH	ORPHA:230
HP:0025032	Abnormality of digestive system physiology	3043	HBB	ORPHA:231214
HP:0025032	Abnormality of digestive system physiology	3043	HBB	ORPHA:231226
HP:0025032	Abnormality of digestive system physiology	57680	CHD8	OMIM:615032
HP:0025032	Abnormality of digestive system physiology	54914	FOCAD	OMIM:619991
HP:0025032	Abnormality of digestive system physiology	51604	PIGT	OMIM:615399
HP:0025032	Abnormality of digestive system physiology	2592	GALT	OMIM:230400
HP:0025032	Abnormality of digestive system physiology	2592	GALT	ORPHA:79239
HP:0025032	Abnormality of digestive system physiology	773	CACNA1A	ORPHA:2131
HP:0025032	Abnormality of digestive system physiology	6507	SLC1A3	ORPHA:2131
HP:0025032	Abnormality of digestive system physiology	477	ATP1A2	ORPHA:2131
HP:0025032	Abnormality of digestive system physiology	478	ATP1A3	ORPHA:2131
HP:0025032	Abnormality of digestive system physiology	8659	ALDH4A1	ORPHA:79101
HP:0025032	Abnormality of digestive system physiology	2203	FBP1	ORPHA:348
HP:0025032	Abnormality of digestive system physiology	229	ALDOB	ORPHA:469
HP:0025032	Abnormality of digestive system physiology	92667	MGME1	ORPHA:352447
HP:0025032	Abnormality of digestive system physiology	5896	RAG1	OMIM:603554
HP:0025032	Abnormality of digestive system physiology	5896	RAG1	OMIM:601457
HP:0025032	Abnormality of digestive system physiology	5897	RAG2	OMIM:603554
HP:0025032	Abnormality of digestive system physiology	5897	RAG2	OMIM:601457
HP:0025032	Abnormality of digestive system physiology	64421	DCLRE1C	OMIM:603554
HP:0025032	Abnormality of digestive system physiology	79796	ALG9	ORPHA:79328
HP:0025032	Abnormality of digestive system physiology	6774	STAT3	OMIM:147060
HP:0025032	Abnormality of digestive system physiology	4306	NR3C2	OMIM:177735
HP:0025032	Abnormality of digestive system physiology	64135	IFIH1	OMIM:615846
HP:0025032	Abnormality of digestive system physiology	10165	SLC25A13	ORPHA:247598
HP:0025032	Abnormality of digestive system physiology	10165	SLC25A13	ORPHA:247585
HP:0025032	Abnormality of digestive system physiology	2683	B4GALT1	ORPHA:79332
HP:0025032	Abnormality of digestive system physiology	91949	COG7	ORPHA:79333
HP:0025032	Abnormality of digestive system physiology	38	ACAT1	ORPHA:134
HP:0025032	Abnormality of digestive system physiology	4351	MPI	ORPHA:79319
HP:0025032	Abnormality of digestive system physiology	4351	MPI	OMIM:602579
HP:0025032	Abnormality of digestive system physiology	34	ACADM	ORPHA:42
HP:0025032	Abnormality of digestive system physiology	55739	NAXD	OMIM:618321
HP:0025032	Abnormality of digestive system physiology	3423	IDS	OMIM:309900
HP:0025032	Abnormality of digestive system physiology	85365	ALG2	OMIM:607906
HP:0025032	Abnormality of digestive system physiology	1374	CPT1A	OMIM:255120
HP:0025032	Abnormality of digestive system physiology	162417	NAGS	ORPHA:927
HP:0025032	Abnormality of digestive system physiology	8813	DPM1	ORPHA:79322
HP:0025032	Abnormality of digestive system physiology	710	SERPING1	OMIM:106100
HP:0025032	Abnormality of digestive system physiology	710	SERPING1	ORPHA:100050
HP:0025032	Abnormality of digestive system physiology	10312	TCIRG1	ORPHA:486
HP:0025032	Abnormality of digestive system physiology	6728	SRP19	ORPHA:486
HP:0025032	Abnormality of digestive system physiology	1991	ELANE	ORPHA:486
HP:0025032	Abnormality of digestive system physiology	2672	GFI1	ORPHA:486
HP:0025032	Abnormality of digestive system physiology	81570	CLPB	ORPHA:486
HP:0025032	Abnormality of digestive system physiology	10195	ALG3	OMIM:601110
HP:0025032	Abnormality of digestive system physiology	2000	ELF4	OMIM:301074
HP:0025032	Abnormality of digestive system physiology	56246	MRAP	ORPHA:361
HP:0025032	Abnormality of digestive system physiology	6770	STAR	ORPHA:361
HP:0025032	Abnormality of digestive system physiology	4158	MC2R	ORPHA:361
HP:0025032	Abnormality of digestive system physiology	23530	NNT	ORPHA:361
HP:0025032	Abnormality of digestive system physiology	10587	TXNRD2	ORPHA:361
HP:0025032	Abnormality of digestive system physiology	5256	PHKA2	ORPHA:264580
HP:0025032	Abnormality of digestive system physiology	5261	PHKG2	ORPHA:264580
HP:0025032	Abnormality of digestive system physiology	8694	DGAT1	OMIM:615863
HP:0025032	Abnormality of digestive system physiology	335	APOA1	OMIM:620657
HP:0025032	Abnormality of digestive system physiology	165918	RNF168	ORPHA:420741
HP:0025032	Abnormality of digestive system physiology	1188	CLCNKB	ORPHA:358
HP:0025032	Abnormality of digestive system physiology	6559	SLC12A3	ORPHA:358
HP:0025032	Abnormality of digestive system physiology	10878	CFHR3	OMIM:235400
HP:0025032	Abnormality of digestive system physiology	3075	CFH	OMIM:235400
HP:0025032	Abnormality of digestive system physiology	3078	CFHR1	OMIM:235400
HP:0025032	Abnormality of digestive system physiology	435	ASL	ORPHA:23
HP:0025032	Abnormality of digestive system physiology	8518	ELP1	OMIM:223900
HP:0025032	Abnormality of digestive system physiology	3155	HMGCL	ORPHA:20
HP:0025032	Abnormality of digestive system physiology	3155	HMGCL	OMIM:246450
HP:0025032	Abnormality of digestive system physiology	4558	MT-TF	ORPHA:550
HP:0025032	Abnormality of digestive system physiology	4572	MT-TQ	ORPHA:550
HP:0025032	Abnormality of digestive system physiology	4512	MT-CO1	ORPHA:550
HP:0025032	Abnormality of digestive system physiology	4513	MT-CO2	ORPHA:550
HP:0025032	Abnormality of digestive system physiology	4514	MT-CO3	ORPHA:550
HP:0025032	Abnormality of digestive system physiology	4578	MT-TW	ORPHA:550
HP:0025032	Abnormality of digestive system physiology	4540	MT-ND5	ORPHA:550
HP:0025032	Abnormality of digestive system physiology	4541	MT-ND6	ORPHA:550
HP:0025032	Abnormality of digestive system physiology	4535	MT-ND1	ORPHA:550
HP:0025032	Abnormality of digestive system physiology	4538	MT-ND4	ORPHA:550
HP:0025032	Abnormality of digestive system physiology	4567	MT-TL1	ORPHA:550
HP:0025032	Abnormality of digestive system physiology	4574	MT-TS1	ORPHA:550
HP:0025032	Abnormality of digestive system physiology	4575	MT-TS2	ORPHA:550
HP:0025032	Abnormality of digestive system physiology	4564	MT-TH	ORPHA:550
HP:0025032	Abnormality of digestive system physiology	6448	SGSH	OMIM:252900
HP:0025032	Abnormality of digestive system physiology	55388	MCM10	OMIM:619313
HP:0025032	Abnormality of digestive system physiology	4683	NBN	OMIM:251260
HP:0025032	Abnormality of digestive system physiology	3932	LCK	OMIM:615758
HP:0025032	Abnormality of digestive system physiology	3659	IRF1	OMIM:620668
HP:0025032	Abnormality of digestive system physiology	6948	TCN2	OMIM:275350
HP:0025032	Abnormality of digestive system physiology	8737	RIPK1	OMIM:618108
HP:0025032	Abnormality of digestive system physiology	4803	NGF	OMIM:608654
HP:0025032	Abnormality of digestive system physiology	6696	SPP1	ORPHA:93552
HP:0025032	Abnormality of digestive system physiology	6303	SAT1	ORPHA:93552
HP:0025032	Abnormality of digestive system physiology	3654	IRAK1	ORPHA:93552
HP:0025032	Abnormality of digestive system physiology	1776	DNASE1L3	ORPHA:36412
HP:0025032	Abnormality of digestive system physiology	959	CD40LG	OMIM:308230
HP:0025032	Abnormality of digestive system physiology	9948	WDR1	OMIM:150550
HP:0025032	Abnormality of digestive system physiology	23095	KIF1B	OMIM:256700
HP:0025032	Abnormality of digestive system physiology	10560	SLC19A2	ORPHA:49827
HP:0025032	Abnormality of digestive system physiology	7132	TNFRSF1A	ORPHA:32960
HP:0025032	Abnormality of digestive system physiology	9837	GINS1	OMIM:617827
HP:0025032	Abnormality of digestive system physiology	2542	SLC37A4	ORPHA:79259
HP:0025032	Abnormality of digestive system physiology	915	CD3D	ORPHA:169160
HP:0025032	Abnormality of digestive system physiology	916	CD3E	ORPHA:169160
HP:0025032	Abnormality of digestive system physiology	919	CD247	ORPHA:169160
HP:0025032	Abnormality of digestive system physiology	5994	RFXAP	ORPHA:572
HP:0025032	Abnormality of digestive system physiology	5993	RFX5	ORPHA:572
HP:0025032	Abnormality of digestive system physiology	8625	RFXANK	ORPHA:572
HP:0025032	Abnormality of digestive system physiology	10320	IKZF1	ORPHA:36426
HP:0025032	Abnormality of digestive system physiology	4128	MAOA	OMIM:300615
HP:0025032	Abnormality of digestive system physiology	8260	NAA10	OMIM:300855
HP:0025032	Abnormality of digestive system physiology	4358	MPV17	OMIM:256810
HP:0025032	Abnormality of digestive system physiology	5257	PHKB	ORPHA:79240
HP:0025032	Abnormality of digestive system physiology	5257	PHKB	OMIM:261750
HP:0025032	Abnormality of digestive system physiology	22845	DOLK	OMIM:610768
HP:0025032	Abnormality of digestive system physiology	3431	SP110	ORPHA:79124
HP:0025032	Abnormality of digestive system physiology	4594	MMUT	OMIM:251000
HP:0025032	Abnormality of digestive system physiology	3158	HMGCS2	OMIM:605911
HP:0025032	Abnormality of digestive system physiology	6557	SLC12A1	OMIM:601678
HP:0025032	Abnormality of digestive system physiology	3172	HNF4A	ORPHA:263455
HP:0025032	Abnormality of digestive system physiology	1760	DMPK	ORPHA:589821
HP:0025032	Abnormality of digestive system physiology	3569	IL6	OMIM:266600
HP:0025032	Abnormality of digestive system physiology	3758	KCNJ1	OMIM:241200
HP:0025032	Abnormality of digestive system physiology	3560	IL2RB	OMIM:618495
HP:0025032	Abnormality of digestive system physiology	190	NR0B1	ORPHA:95702
HP:0025032	Abnormality of digestive system physiology	11280	SCN11A	OMIM:615548
HP:0025032	Abnormality of digestive system physiology	4548	MTR	OMIM:250940
HP:0025032	Abnormality of digestive system physiology	7454	WAS	OMIM:301000
HP:0025032	Abnormality of digestive system physiology	3514	IGKC	OMIM:614102
HP:0025032	Abnormality of digestive system physiology	3575	IL7R	OMIM:608971
HP:0025032	Abnormality of digestive system physiology	5293	PIK3CD	ORPHA:221139
HP:0025032	Abnormality of digestive system physiology	90417	KNSTRN	ORPHA:221139
HP:0025032	Abnormality of digestive system physiology	79783	SUGCT	OMIM:231690
HP:0025032	Abnormality of digestive system physiology	374354	NHLRC2	OMIM:618278
HP:0025032	Abnormality of digestive system physiology	64711	HS3ST6	OMIM:619367
HP:0025032	Abnormality of digestive system physiology	1674	DES	OMIM:601419
HP:0025032	Abnormality of digestive system physiology	5294	PIK3CG	OMIM:619802
HP:0025032	Abnormality of digestive system physiology	3145	HMBS	OMIM:176000
HP:0025032	Abnormality of digestive system physiology	3145	HMBS	ORPHA:79276
HP:0025032	Abnormality of digestive system physiology	3033	HADH	ORPHA:71212
HP:0025032	Abnormality of digestive system physiology	2799	GNS	OMIM:252940
HP:0025032	Abnormality of digestive system physiology	6337	SCNN1A	OMIM:264350
HP:0025032	Abnormality of digestive system physiology	1376	CPT2	OMIM:608836
HP:0025032	Abnormality of digestive system physiology	1027	CDKN1B	ORPHA:652
HP:0025032	Abnormality of digestive system physiology	1027	CDKN1B	ORPHA:276152
HP:0025032	Abnormality of digestive system physiology	1026	CDKN1A	ORPHA:652
HP:0025032	Abnormality of digestive system physiology	1030	CDKN2B	ORPHA:652
HP:0025032	Abnormality of digestive system physiology	1031	CDKN2C	ORPHA:652
HP:0025032	Abnormality of digestive system physiology	139818	DOCK11	OMIM:301109
HP:0025032	Abnormality of digestive system physiology	7482	WNT2B	OMIM:618168
HP:0025032	Abnormality of digestive system physiology	210	ALAD	ORPHA:100924
HP:0025032	Abnormality of digestive system physiology	551	AVP	ORPHA:30925
HP:0025032	Abnormality of digestive system physiology	3458	IFNG	OMIM:618963
HP:0025032	Abnormality of digestive system physiology	138050	HGSNAT	OMIM:252930
HP:0025032	Abnormality of digestive system physiology	1371	CPOX	OMIM:121300
HP:0025032	Abnormality of digestive system physiology	11011	TLK2	OMIM:618050
HP:0025032	Abnormality of digestive system physiology	6850	SYK	OMIM:619381
HP:0025032	Abnormality of digestive system physiology	5699	PSMB10	OMIM:620807
HP:0025032	Abnormality of digestive system physiology	7388	UQCRH	OMIM:620137
HP:0025032	Abnormality of digestive system physiology	4669	NAGLU	OMIM:252920
HP:0025032	Abnormality of digestive system physiology	4067	LYN	OMIM:620376
HP:0025032	Abnormality of digestive system physiology	6584	SLC22A5	OMIM:212140
HP:0025032	Abnormality of digestive system physiology	1410	CRYAB	OMIM:608810
HP:0025032	Abnormality of digestive system physiology	1410	CRYAB	ORPHA:399058
HP:0025032	Abnormality of digestive system physiology	55703	POLR3B	OMIM:614381
HP:0025032	Abnormality of digestive system physiology	55703	POLR3B	OMIM:607694
HP:0025032	Abnormality of digestive system physiology	4750	NEK1	OMIM:617892
HP:0025032	Abnormality of digestive system physiology	4750	NEK1	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	4593	MUSK	OMIM:616325
HP:0025032	Abnormality of digestive system physiology	57679	ALS2	ORPHA:247604
HP:0025032	Abnormality of digestive system physiology	57679	ALS2	OMIM:205100
HP:0025032	Abnormality of digestive system physiology	57679	ALS2	ORPHA:300605
HP:0025032	Abnormality of digestive system physiology	57679	ALS2	OMIM:607225
HP:0025032	Abnormality of digestive system physiology	57679	ALS2	OMIM:606353
HP:0025032	Abnormality of digestive system physiology	11160	ERLIN2	ORPHA:247604
HP:0025032	Abnormality of digestive system physiology	11160	ERLIN2	ORPHA:280384
HP:0025032	Abnormality of digestive system physiology	11160	ERLIN2	ORPHA:209951
HP:0025032	Abnormality of digestive system physiology	9499	MYOT	ORPHA:266
HP:0025032	Abnormality of digestive system physiology	6687	SPG7	ORPHA:99013
HP:0025032	Abnormality of digestive system physiology	6687	SPG7	OMIM:607259
HP:0025032	Abnormality of digestive system physiology	6687	SPG7	ORPHA:35689
HP:0025032	Abnormality of digestive system physiology	8291	DYSF	ORPHA:268
HP:0025032	Abnormality of digestive system physiology	4577	MT-TV	ORPHA:255210
HP:0025032	Abnormality of digestive system physiology	4508	MT-ATP6	ORPHA:255210
HP:0025032	Abnormality of digestive system physiology	4508	MT-ATP6	ORPHA:225154
HP:0025032	Abnormality of digestive system physiology	4566	MT-TK	ORPHA:255210
HP:0025032	Abnormality of digestive system physiology	6536	SLC6A9	OMIM:617301
HP:0025032	Abnormality of digestive system physiology	101060691	NUTM2B-AS1	OMIM:618637
HP:0025032	Abnormality of digestive system physiology	84466	MEGF10	OMIM:614399
HP:0025032	Abnormality of digestive system physiology	84466	MEGF10	OMIM:620249
HP:0025032	Abnormality of digestive system physiology	8575	PRKRA	ORPHA:210571
HP:0025032	Abnormality of digestive system physiology	8575	PRKRA	OMIM:612067
HP:0025032	Abnormality of digestive system physiology	348	APOE	OMIM:607822
HP:0025032	Abnormality of digestive system physiology	5663	PSEN1	OMIM:607822
HP:0025032	Abnormality of digestive system physiology	10939	AFG3L2	ORPHA:313772
HP:0025032	Abnormality of digestive system physiology	10939	AFG3L2	OMIM:614487
HP:0025032	Abnormality of digestive system physiology	83480	PUS3	ORPHA:488627
HP:0025032	Abnormality of digestive system physiology	10049	DNAJB6	ORPHA:34516
HP:0025032	Abnormality of digestive system physiology	10049	DNAJB6	OMIM:603511
HP:0025032	Abnormality of digestive system physiology	4620	MYH2	OMIM:605637
HP:0025032	Abnormality of digestive system physiology	10935	PRDX3	OMIM:619862
HP:0025032	Abnormality of digestive system physiology	80208	SPG11	ORPHA:2822
HP:0025032	Abnormality of digestive system physiology	80208	SPG11	ORPHA:300605
HP:0025032	Abnormality of digestive system physiology	80208	SPG11	OMIM:604360
HP:0025032	Abnormality of digestive system physiology	8622	PDE8B	ORPHA:228169
HP:0025032	Abnormality of digestive system physiology	2911	GRM1	OMIM:617691
HP:0025032	Abnormality of digestive system physiology	55773	TBC1D23	OMIM:617695
HP:0025032	Abnormality of digestive system physiology	54902	TTC19	OMIM:615157
HP:0025032	Abnormality of digestive system physiology	391356	PTRHD1	OMIM:620747
HP:0025032	Abnormality of digestive system physiology	5860	QDPR	ORPHA:226
HP:0025032	Abnormality of digestive system physiology	5860	QDPR	OMIM:261630
HP:0025032	Abnormality of digestive system physiology	4076	CAPRIN1	OMIM:620636
HP:0025032	Abnormality of digestive system physiology	10342	TFG	ORPHA:90117
HP:0025032	Abnormality of digestive system physiology	57462	MYORG	OMIM:618317
HP:0025032	Abnormality of digestive system physiology	9562	MINPP1	OMIM:619527
HP:0025032	Abnormality of digestive system physiology	1436	CSF1R	OMIM:221820
HP:0025032	Abnormality of digestive system physiology	4123	MAN2C1	OMIM:619775
HP:0025032	Abnormality of digestive system physiology	79977	GRHL2	OMIM:616029
HP:0025032	Abnormality of digestive system physiology	2055	CLN8	ORPHA:1947
HP:0025032	Abnormality of digestive system physiology	5837	PYGM	ORPHA:368
HP:0025032	Abnormality of digestive system physiology	2512	FTL	ORPHA:157846
HP:0025032	Abnormality of digestive system physiology	2512	FTL	OMIM:606159
HP:0025032	Abnormality of digestive system physiology	4509	MT-ATP8	ORPHA:480
HP:0025032	Abnormality of digestive system physiology	120	ADD3	OMIM:617008
HP:0025032	Abnormality of digestive system physiology	171546	SPTSSA	OMIM:620416
HP:0025032	Abnormality of digestive system physiology	171546	SPTSSA	OMIM:620417
HP:0025032	Abnormality of digestive system physiology	5081	PAX7	OMIM:618578
HP:0025032	Abnormality of digestive system physiology	353116	RILPL1	OMIM:619790
HP:0025032	Abnormality of digestive system physiology	53371	NUP54	OMIM:620427
HP:0025032	Abnormality of digestive system physiology	53371	NUP54	ORPHA:225154
HP:0025032	Abnormality of digestive system physiology	79912	PYROXD1	OMIM:617258
HP:0025032	Abnormality of digestive system physiology	79903	NAA60	OMIM:620786
HP:0025032	Abnormality of digestive system physiology	81790	RNF170	OMIM:619686
HP:0025032	Abnormality of digestive system physiology	84909	AOPEP	OMIM:619565
HP:0025032	Abnormality of digestive system physiology	25814	ATXN10	OMIM:603516
HP:0025032	Abnormality of digestive system physiology	387119	CEP85L	ORPHA:572013
HP:0025032	Abnormality of digestive system physiology	65055	REEP1	ORPHA:101011
HP:0025032	Abnormality of digestive system physiology	65055	REEP1	OMIM:610250
HP:0025032	Abnormality of digestive system physiology	351	APP	ORPHA:324708
HP:0025032	Abnormality of digestive system physiology	4704	NDUFA9	OMIM:618247
HP:0025032	Abnormality of digestive system physiology	29978	UBQLN2	OMIM:300857
HP:0025032	Abnormality of digestive system physiology	29978	UBQLN2	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	182	JAG1	OMIM:619574
HP:0025032	Abnormality of digestive system physiology	54834	GDAP2	OMIM:618369
HP:0025032	Abnormality of digestive system physiology	51704	GPRC5B	OMIM:620447
HP:0025032	Abnormality of digestive system physiology	361	AQP4	OMIM:620448
HP:0025032	Abnormality of digestive system physiology	4864	NPC1	OMIM:257220
HP:0025032	Abnormality of digestive system physiology	51324	SPG21	ORPHA:101001
HP:0025032	Abnormality of digestive system physiology	51324	SPG21	OMIM:248900
HP:0025032	Abnormality of digestive system physiology	5631	PRPS1	OMIM:301835
HP:0025032	Abnormality of digestive system physiology	2705	GJB1	OMIM:302800
HP:0025032	Abnormality of digestive system physiology	1200	TPP1	OMIM:609270
HP:0025032	Abnormality of digestive system physiology	220296	HEPACAM	OMIM:613925
HP:0025032	Abnormality of digestive system physiology	29967	LRP12	OMIM:620452
HP:0025032	Abnormality of digestive system physiology	29967	LRP12	OMIM:164310
HP:0025032	Abnormality of digestive system physiology	26040	SETBP1	ORPHA:798
HP:0025032	Abnormality of digestive system physiology	3028	HSD17B10	ORPHA:391428
HP:0025032	Abnormality of digestive system physiology	55697	VAC14	OMIM:617054
HP:0025032	Abnormality of digestive system physiology	100996717	NOTCH2NLC	OMIM:619473
HP:0025032	Abnormality of digestive system physiology	2318	FLNC	ORPHA:63273
HP:0025032	Abnormality of digestive system physiology	23230	VPS13A	OMIM:200150
HP:0025032	Abnormality of digestive system physiology	23230	VPS13A	ORPHA:2388
HP:0025032	Abnormality of digestive system physiology	1893	ECM1	ORPHA:530
HP:0025032	Abnormality of digestive system physiology	23636	NUP62	ORPHA:225154
HP:0025032	Abnormality of digestive system physiology	23636	NUP62	OMIM:271930
HP:0025032	Abnormality of digestive system physiology	10273	STUB1	ORPHA:412057
HP:0025032	Abnormality of digestive system physiology	10273	STUB1	OMIM:618093
HP:0025032	Abnormality of digestive system physiology	84081	NSRP1	OMIM:620001
HP:0025032	Abnormality of digestive system physiology	5216	PFN1	OMIM:614808
HP:0025032	Abnormality of digestive system physiology	5216	PFN1	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	1678	TIMM8A	ORPHA:52368
HP:0025032	Abnormality of digestive system physiology	1678	TIMM8A	OMIM:304700
HP:0025032	Abnormality of digestive system physiology	64432	MRPS25	OMIM:619025
HP:0025032	Abnormality of digestive system physiology	84842	HPDL	OMIM:619027
HP:0025032	Abnormality of digestive system physiology	132001	TAMM41	OMIM:620139
HP:0025032	Abnormality of digestive system physiology	3156	HMGCR	OMIM:620375
HP:0025032	Abnormality of digestive system physiology	9782	MATR3	OMIM:606070
HP:0025032	Abnormality of digestive system physiology	9782	MATR3	ORPHA:600
HP:0025032	Abnormality of digestive system physiology	9782	MATR3	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	400916	CHCHD10	OMIM:615911
HP:0025032	Abnormality of digestive system physiology	400916	CHCHD10	ORPHA:275872
HP:0025032	Abnormality of digestive system physiology	400916	CHCHD10	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	400916	CHCHD10	ORPHA:276435
HP:0025032	Abnormality of digestive system physiology	8878	SQSTM1	ORPHA:275872
HP:0025032	Abnormality of digestive system physiology	8878	SQSTM1	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	8878	SQSTM1	OMIM:616437
HP:0025032	Abnormality of digestive system physiology	23435	TARDBP	ORPHA:275872
HP:0025032	Abnormality of digestive system physiology	23435	TARDBP	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	23435	TARDBP	OMIM:612069
HP:0025032	Abnormality of digestive system physiology	5111	PCNA	OMIM:615919
HP:0025032	Abnormality of digestive system physiology	4758	NEU1	ORPHA:93399
HP:0025032	Abnormality of digestive system physiology	79581	SLC52A2	OMIM:614707
HP:0025032	Abnormality of digestive system physiology	131377	KLHL40	ORPHA:171430
HP:0025032	Abnormality of digestive system physiology	131377	KLHL40	OMIM:615348
HP:0025032	Abnormality of digestive system physiology	271	AMPD2	OMIM:615809
HP:0025032	Abnormality of digestive system physiology	729359	PLIN4	OMIM:601846
HP:0025032	Abnormality of digestive system physiology	64207	IRF2BPL	OMIM:618088
HP:0025032	Abnormality of digestive system physiology	4151	MB	OMIM:620286
HP:0025032	Abnormality of digestive system physiology	26278	SACS	ORPHA:98
HP:0025032	Abnormality of digestive system physiology	7156	TOP3A	OMIM:618098
HP:0025032	Abnormality of digestive system physiology	1600	DAB1	OMIM:615945
HP:0025032	Abnormality of digestive system physiology	113278	SLC52A3	OMIM:211530
HP:0025032	Abnormality of digestive system physiology	113278	SLC52A3	OMIM:211500
HP:0025032	Abnormality of digestive system physiology	5251	PHEX	ORPHA:89936
HP:0025032	Abnormality of digestive system physiology	23533	PIK3R5	ORPHA:64753
HP:0025032	Abnormality of digestive system physiology	23064	SETX	ORPHA:64753
HP:0025032	Abnormality of digestive system physiology	23064	SETX	OMIM:606002
HP:0025032	Abnormality of digestive system physiology	146057	TTBK2	ORPHA:98767
HP:0025032	Abnormality of digestive system physiology	3748	KCNC3	ORPHA:98768
HP:0025032	Abnormality of digestive system physiology	724066	ATXN8	ORPHA:98760
HP:0025032	Abnormality of digestive system physiology	724066	ATXN8	OMIM:608768
HP:0025032	Abnormality of digestive system physiology	492	ATP2B3	OMIM:302500
HP:0025032	Abnormality of digestive system physiology	10280	SIGMAR1	ORPHA:300605
HP:0025032	Abnormality of digestive system physiology	10558	SPTLC1	ORPHA:300605
HP:0025032	Abnormality of digestive system physiology	2934	GSN	ORPHA:85448
HP:0025032	Abnormality of digestive system physiology	255928	SYT14	ORPHA:284271
HP:0025032	Abnormality of digestive system physiology	255928	SYT14	OMIM:614229
HP:0025032	Abnormality of digestive system physiology	6310	ATXN1	ORPHA:98755
HP:0025032	Abnormality of digestive system physiology	6310	ATXN1	OMIM:164400
HP:0025032	Abnormality of digestive system physiology	10133	OPTN	OMIM:613435
HP:0025032	Abnormality of digestive system physiology	10133	OPTN	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	91574	MTRFR	OMIM:613559
HP:0025032	Abnormality of digestive system physiology	85021	REPS1	OMIM:617916
HP:0025032	Abnormality of digestive system physiology	3752	KCND3	OMIM:607346
HP:0025032	Abnormality of digestive system physiology	25978	CHMP2B	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	3178	HNRNPA1	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	8148	TAF15	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	5445	PON2	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	9217	VAPB	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	9217	VAPB	OMIM:608627
HP:0025032	Abnormality of digestive system physiology	5630	PRPH	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	5630	PRPH	OMIM:105400
HP:0025032	Abnormality of digestive system physiology	55830	GLT8D1	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	755	CFAP410	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	10891	PPARGC1A	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	6647	SOD1	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	6647	SOD1	OMIM:105400
HP:0025032	Abnormality of digestive system physiology	1639	DCTN1	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	1639	DCTN1	OMIM:105400
HP:0025032	Abnormality of digestive system physiology	5444	PON1	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	5446	PON3	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	4744	NEFH	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	4744	NEFH	OMIM:105400
HP:0025032	Abnormality of digestive system physiology	283	ANG	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	1610	DAO	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	2066	ERBB4	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	311	ANXA11	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	311	ANXA11	OMIM:617839
HP:0025032	Abnormality of digestive system physiology	23025	UNC13A	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	899	CCNF	ORPHA:803
HP:0025032	Abnormality of digestive system physiology	6509	SLC1A4	ORPHA:447997
HP:0025032	Abnormality of digestive system physiology	2776	GNAQ	ORPHA:3205
HP:0025032	Abnormality of digestive system physiology	25793	FBXO7	ORPHA:171695
HP:0025032	Abnormality of digestive system physiology	51067	YARS2	OMIM:613561
HP:0025032	Abnormality of digestive system physiology	7407	VARS1	OMIM:617802
HP:0025032	Abnormality of digestive system physiology	10382	TUBB4A	OMIM:128101
HP:0025032	Abnormality of digestive system physiology	10382	TUBB4A	ORPHA:98805
HP:0025032	Abnormality of digestive system physiology	1861	TOR1A	OMIM:128100
HP:0025032	Abnormality of digestive system physiology	2982	GUCY1A1	OMIM:615750
HP:0025032	Abnormality of digestive system physiology	57704	GBA2	ORPHA:352641
HP:0025032	Abnormality of digestive system physiology	79644	SRD5A3	OMIM:612379
HP:0025032	Abnormality of digestive system physiology	25953	PNKD	OMIM:118800
HP:0025032	Abnormality of digestive system physiology	51008	ASCC1	OMIM:616867
HP:0025032	Abnormality of digestive system physiology	5582	PRKCG	OMIM:605361
HP:0025032	Abnormality of digestive system physiology	3418	IDH2	ORPHA:163634
HP:0025032	Abnormality of digestive system physiology	59336	PRDM13	OMIM:619909
HP:0025032	Abnormality of digestive system physiology	79784	MYH14	ORPHA:397744
HP:0025032	Abnormality of digestive system physiology	84617	TUBB6	OMIM:617732
HP:0025032	Abnormality of digestive system physiology	122553	TRAPPC6B	OMIM:617862
HP:0025032	Abnormality of digestive system physiology	28957	MRPS28	OMIM:618958
HP:0025032	Abnormality of digestive system physiology	51	ACOX1	OMIM:264470
HP:0025032	Abnormality of digestive system physiology	51	ACOX1	OMIM:618960
HP:0025032	Abnormality of digestive system physiology	10577	NPC2	OMIM:607625
HP:0025032	Abnormality of digestive system physiology	8913	CACNA1G	ORPHA:458803
HP:0025032	Abnormality of digestive system physiology	8913	CACNA1G	OMIM:616795
HP:0025032	Abnormality of digestive system physiology	22943	DKK1	ORPHA:268882
HP:0025032	Abnormality of digestive system physiology	7515	XRCC1	OMIM:617633
HP:0025032	Abnormality of digestive system physiology	4359	MPZ	OMIM:607736
HP:0025032	Abnormality of digestive system physiology	4747	NEFL	OMIM:607734
HP:0025032	Abnormality of digestive system physiology	367	AR	OMIM:313200
HP:0025032	Abnormality of digestive system physiology	79932	KIAA0319L	ORPHA:220402
HP:0025032	Abnormality of digestive system physiology	3655	ITGA6	ORPHA:79403
HP:0025032	Abnormality of digestive system physiology	3691	ITGB4	ORPHA:79403
HP:0025032	Abnormality of digestive system physiology	4609	MYC	ORPHA:543
HP:0025032	Abnormality of digestive system physiology	2130	EWSR1	ORPHA:83469
HP:0025032	Abnormality of digestive system physiology	7490	WT1	ORPHA:83469
HP:0025032	Abnormality of digestive system physiology	64072	CDH23	ORPHA:2965
HP:0025032	Abnormality of digestive system physiology	64072	CDH23	ORPHA:91347
HP:0025032	Abnormality of digestive system physiology	9049	AIP	ORPHA:2965
HP:0025032	Abnormality of digestive system physiology	672	BRCA1	ORPHA:168829
HP:0025032	Abnormality of digestive system physiology	672	BRCA1	ORPHA:1333
HP:0025032	Abnormality of digestive system physiology	5053	PAH	ORPHA:79254
HP:0025032	Abnormality of digestive system physiology	114548	NLRP3	ORPHA:47045
HP:0025032	Abnormality of digestive system physiology	114548	NLRP3	ORPHA:1451
HP:0025032	Abnormality of digestive system physiology	3141	HLCS	ORPHA:79242
HP:0025032	Abnormality of digestive system physiology	546	ATRX	ORPHA:847
HP:0025032	Abnormality of digestive system physiology	546	ATRX	ORPHA:100075
HP:0025032	Abnormality of digestive system physiology	285282	RABL3	ORPHA:1333
HP:0025032	Abnormality of digestive system physiology	7157	TP53	ORPHA:1333
HP:0025032	Abnormality of digestive system physiology	1029	CDKN2A	ORPHA:1333
HP:0025032	Abnormality of digestive system physiology	79728	PALB2	ORPHA:1333
HP:0025032	Abnormality of digestive system physiology	23022	PALLD	ORPHA:1333
HP:0025032	Abnormality of digestive system physiology	5873	RAB27A	ORPHA:79477
HP:0025032	Abnormality of digestive system physiology	2313	FLI1	ORPHA:370348
HP:0025032	Abnormality of digestive system physiology	330	BIRC3	ORPHA:52417
HP:0025032	Abnormality of digestive system physiology	10892	MALT1	ORPHA:52417
HP:0025032	Abnormality of digestive system physiology	27086	FOXP1	ORPHA:52417
HP:0025032	Abnormality of digestive system physiology	3492	IGH	ORPHA:52417
HP:0025032	Abnormality of digestive system physiology	8915	BCL10	ORPHA:52417
HP:0025032	Abnormality of digestive system physiology	8314	BAP1	ORPHA:2495
HP:0025032	Abnormality of digestive system physiology	4771	NF2	ORPHA:2495
HP:0025032	Abnormality of digestive system physiology	6598	SMARCB1	ORPHA:2495
HP:0025032	Abnormality of digestive system physiology	6598	SMARCB1	ORPHA:99966
HP:0025032	Abnormality of digestive system physiology	5155	PDGFB	ORPHA:2495
HP:0025032	Abnormality of digestive system physiology	84231	TRAF7	ORPHA:2495
HP:0025032	Abnormality of digestive system physiology	207	AKT1	ORPHA:2495
HP:0025032	Abnormality of digestive system physiology	51684	SUFU	ORPHA:2495
HP:0025032	Abnormality of digestive system physiology	6605	SMARCE1	ORPHA:2495
HP:0025032	Abnormality of digestive system physiology	6049	RNF6	ORPHA:99977
HP:0025032	Abnormality of digestive system physiology	51741	WWOX	ORPHA:99977
HP:0025032	Abnormality of digestive system physiology	9940	DLEC1	ORPHA:99977
HP:0025032	Abnormality of digestive system physiology	26191	PTPN22	ORPHA:900
HP:0025032	Abnormality of digestive system physiology	3115	HLA-DPB1	ORPHA:900
HP:0025032	Abnormality of digestive system physiology	5657	PRTN3	ORPHA:900
HP:0025032	Abnormality of digestive system physiology	3113	HLA-DPA1	ORPHA:900
HP:0025032	Abnormality of digestive system physiology	554	AVPR2	ORPHA:223
HP:0025032	Abnormality of digestive system physiology	359	AQP2	ORPHA:223
HP:0025032	Abnormality of digestive system physiology	25802	LMOD1	ORPHA:2241
HP:0025032	Abnormality of digestive system physiology	4638	MYLK	ORPHA:2241
HP:0025032	Abnormality of digestive system physiology	6392	SDHD	ORPHA:100093
HP:0025032	Abnormality of digestive system physiology	6389	SDHA	ORPHA:44890
HP:0025032	Abnormality of digestive system physiology	6390	SDHB	ORPHA:44890
HP:0025032	Abnormality of digestive system physiology	6391	SDHC	ORPHA:44890
HP:0025032	Abnormality of digestive system physiology	5156	PDGFRA	ORPHA:44890
HP:0025032	Abnormality of digestive system physiology	79651	RHBDF2	ORPHA:2198
HP:0025032	Abnormality of digestive system physiology	2624	GATA2	ORPHA:228423
HP:0025032	Abnormality of digestive system physiology	2492	FSHR	ORPHA:64739
HP:0025032	Abnormality of digestive system physiology	10079	ATP9A	OMIM:620242
HP:0025032	Abnormality of digestive system physiology	7187	TRAF3	ORPHA:1930
HP:0025032	Abnormality of digestive system physiology	81622	UNC93B1	ORPHA:1930
HP:0025032	Abnormality of digestive system physiology	148022	TICAM1	ORPHA:1930
HP:0025032	Abnormality of digestive system physiology	7098	TLR3	ORPHA:1930
HP:0025032	Abnormality of digestive system physiology	29110	TBK1	ORPHA:1930
HP:0025032	Abnormality of digestive system physiology	4878	NPPA	ORPHA:1344
HP:0025032	Abnormality of digestive system physiology	1788	DNMT3A	ORPHA:276621
HP:0025032	Abnormality of digestive system physiology	2034	EPAS1	ORPHA:276621
HP:0025032	Abnormality of digestive system physiology	776	CACNA1D	ORPHA:369929
HP:0025032	Abnormality of digestive system physiology	1743	DLST	ORPHA:29072
HP:0025032	Abnormality of digestive system physiology	2271	FH	ORPHA:29072
HP:0025032	Abnormality of digestive system physiology	8402	SLC25A11	ORPHA:29072
HP:0025032	Abnormality of digestive system physiology	54949	SDHAF2	ORPHA:29072
HP:0025032	Abnormality of digestive system physiology	55654	TMEM127	ORPHA:29072
HP:0025032	Abnormality of digestive system physiology	4763	NF1	ORPHA:29072
HP:0025032	Abnormality of digestive system physiology	4149	MAX	ORPHA:29072
HP:0025032	Abnormality of digestive system physiology	1181	CLCN2	ORPHA:404
HP:0025032	Abnormality of digestive system physiology	1584	CYP11B1	ORPHA:403
HP:0025032	Abnormality of digestive system physiology	3762	KCNJ5	ORPHA:251274
HP:0025032	Abnormality of digestive system physiology	6535	SLC6A8	OMIM:300352
HP:0025032	Abnormality of digestive system physiology	6535	SLC6A8	ORPHA:52503
HP:0025032	Abnormality of digestive system physiology	9860	LRIG2	OMIM:615112
HP:0025032	Abnormality of digestive system physiology	9860	LRIG2	ORPHA:2704
HP:0025032	Abnormality of digestive system physiology	55823	VPS11	OMIM:616683
HP:0025032	Abnormality of digestive system physiology	55823	VPS11	ORPHA:466934
HP:0025032	Abnormality of digestive system physiology	2132	EXT2	OMIM:616682
HP:0025032	Abnormality of digestive system physiology	2132	EXT2	ORPHA:466926
HP:0025032	Abnormality of digestive system physiology	4010	LMX1B	ORPHA:2614
HP:0025032	Abnormality of digestive system physiology	4010	LMX1B	ORPHA:495818
HP:0025032	Abnormality of digestive system physiology	775	CACNA1C	OMIM:620029
HP:0025032	Abnormality of digestive system physiology	10973	ASCC3	OMIM:620700
HP:0025032	Abnormality of digestive system physiology	81857	MED25	OMIM:616449
HP:0025032	Abnormality of digestive system physiology	81857	MED25	ORPHA:464738
HP:0025032	Abnormality of digestive system physiology	55777	MBD5	ORPHA:228402
HP:0025032	Abnormality of digestive system physiology	55777	MBD5	OMIM:156200
HP:0025032	Abnormality of digestive system physiology	5457	POU4F1	ORPHA:314647
HP:0025032	Abnormality of digestive system physiology	23261	CAMTA1	ORPHA:314647
HP:0025032	Abnormality of digestive system physiology	1131	CHRM3	ORPHA:2970
HP:0025032	Abnormality of digestive system physiology	9839	ZEB2	OMIM:235730
HP:0025032	Abnormality of digestive system physiology	9839	ZEB2	ORPHA:261552
HP:0025032	Abnormality of digestive system physiology	9839	ZEB2	ORPHA:261537
HP:0025032	Abnormality of digestive system physiology	64324	NSD1	ORPHA:821
HP:0025032	Abnormality of digestive system physiology	10297	APC2	ORPHA:821
HP:0025032	Abnormality of digestive system physiology	5447	POR	ORPHA:95699
HP:0025032	Abnormality of digestive system physiology	3909	LAMA3	ORPHA:79404
HP:0025032	Abnormality of digestive system physiology	3918	LAMC2	ORPHA:79404
HP:0025032	Abnormality of digestive system physiology	3914	LAMB3	ORPHA:79404
HP:0025032	Abnormality of digestive system physiology	4784	NFIX	ORPHA:447980
HP:0025032	Abnormality of digestive system physiology	7849	PAX8	OMIM:218700
HP:0025032	Abnormality of digestive system physiology	7849	PAX8	ORPHA:95720
HP:0025032	Abnormality of digestive system physiology	7849	PAX8	ORPHA:95713
HP:0025032	Abnormality of digestive system physiology	7849	PAX8	ORPHA:95712
HP:0025032	Abnormality of digestive system physiology	6531	SLC6A3	ORPHA:238455
HP:0025032	Abnormality of digestive system physiology	6531	SLC6A3	OMIM:613135
HP:0025032	Abnormality of digestive system physiology	80232	WDR26	ORPHA:513456
HP:0025032	Abnormality of digestive system physiology	80232	WDR26	OMIM:617616
HP:0025032	Abnormality of digestive system physiology	116931	MED12L	OMIM:618872
HP:0025032	Abnormality of digestive system physiology	249	ALPL	OMIM:241500
HP:0025032	Abnormality of digestive system physiology	65993	MRPS34	OMIM:617664
HP:0025032	Abnormality of digestive system physiology	89910	UBE3B	OMIM:244450
HP:0025032	Abnormality of digestive system physiology	6812	STXBP1	ORPHA:495818
HP:0025032	Abnormality of digestive system physiology	10730	YME1L1	OMIM:617302
HP:0025032	Abnormality of digestive system physiology	55690	PACS1	OMIM:615009
HP:0025032	Abnormality of digestive system physiology	55690	PACS1	ORPHA:329224
HP:0025032	Abnormality of digestive system physiology	2314	FLII	ORPHA:819
HP:0025032	Abnormality of digestive system physiology	23096	IQSEC2	ORPHA:819
HP:0025032	Abnormality of digestive system physiology	10743	RAI1	ORPHA:819
HP:0025032	Abnormality of digestive system physiology	10743	RAI1	OMIM:182290
HP:0025032	Abnormality of digestive system physiology	10522	DEAF1	ORPHA:819
HP:0025032	Abnormality of digestive system physiology	10522	DEAF1	ORPHA:468620
HP:0025032	Abnormality of digestive system physiology	10847	SRCAP	ORPHA:2044
HP:0025032	Abnormality of digestive system physiology	5498	PPOX	OMIM:176200
HP:0025032	Abnormality of digestive system physiology	5498	PPOX	ORPHA:79473
HP:0025032	Abnormality of digestive system physiology	3508	IGHMBP2	OMIM:604320
HP:0025032	Abnormality of digestive system physiology	10978	CLP1	OMIM:615803
HP:0025032	Abnormality of digestive system physiology	7252	TSHB	ORPHA:90674
HP:0025032	Abnormality of digestive system physiology	55650	PIGV	OMIM:239300
HP:0025032	Abnormality of digestive system physiology	8029	CUBN	ORPHA:35858
HP:0025032	Abnormality of digestive system physiology	1896	EDA	OMIM:305100
HP:0025032	Abnormality of digestive system physiology	2590	GALNT2	OMIM:618885
HP:0025032	Abnormality of digestive system physiology	80204	FBXO11	OMIM:618089
HP:0025032	Abnormality of digestive system physiology	113189	CHST14	ORPHA:2953
HP:0025032	Abnormality of digestive system physiology	113189	CHST14	OMIM:601776
HP:0025032	Abnormality of digestive system physiology	29940	DSE	ORPHA:2953
HP:0025032	Abnormality of digestive system physiology	5119	CHMP1A	OMIM:614961
HP:0025032	Abnormality of digestive system physiology	9968	MED12	ORPHA:93932
HP:0025032	Abnormality of digestive system physiology	9968	MED12	OMIM:305450
HP:0025032	Abnormality of digestive system physiology	9968	MED12	OMIM:300895
HP:0025032	Abnormality of digestive system physiology	7555	CNBP	ORPHA:606
HP:0025032	Abnormality of digestive system physiology	8398	PLA2G6	ORPHA:35069
HP:0025032	Abnormality of digestive system physiology	5095	PCCA	OMIM:606054
HP:0025032	Abnormality of digestive system physiology	5095	PCCA	ORPHA:35
HP:0025032	Abnormality of digestive system physiology	5096	PCCB	OMIM:606054
HP:0025032	Abnormality of digestive system physiology	5096	PCCB	ORPHA:35
HP:0025032	Abnormality of digestive system physiology	259232	NALCN	ORPHA:562528
HP:0025032	Abnormality of digestive system physiology	259232	NALCN	OMIM:616266
HP:0025032	Abnormality of digestive system physiology	259232	NALCN	OMIM:615419
HP:0025032	Abnormality of digestive system physiology	259232	NALCN	ORPHA:371364
HP:0025032	Abnormality of digestive system physiology	1717	DHCR7	OMIM:270400
HP:0025032	Abnormality of digestive system physiology	5442	POLRMT	OMIM:619743
HP:0025032	Abnormality of digestive system physiology	57178	ZMIZ1	OMIM:618659
HP:0025032	Abnormality of digestive system physiology	28514	DLL1	ORPHA:93926
HP:0025032	Abnormality of digestive system physiology	28514	DLL1	ORPHA:93924
HP:0025032	Abnormality of digestive system physiology	28514	DLL1	ORPHA:93925
HP:0025032	Abnormality of digestive system physiology	28514	DLL1	ORPHA:220386
HP:0025032	Abnormality of digestive system physiology	2253	FGF8	ORPHA:93926
HP:0025032	Abnormality of digestive system physiology	2253	FGF8	ORPHA:93924
HP:0025032	Abnormality of digestive system physiology	2253	FGF8	ORPHA:93925
HP:0025032	Abnormality of digestive system physiology	2253	FGF8	ORPHA:220386
HP:0025032	Abnormality of digestive system physiology	6496	SIX3	ORPHA:93926
HP:0025032	Abnormality of digestive system physiology	6496	SIX3	ORPHA:93924
HP:0025032	Abnormality of digestive system physiology	6496	SIX3	ORPHA:93925
HP:0025032	Abnormality of digestive system physiology	6496	SIX3	ORPHA:220386
HP:0025032	Abnormality of digestive system physiology	6496	SIX3	OMIM:157170
HP:0025032	Abnormality of digestive system physiology	7050	TGIF1	ORPHA:93926
HP:0025032	Abnormality of digestive system physiology	7050	TGIF1	ORPHA:93924
HP:0025032	Abnormality of digestive system physiology	7050	TGIF1	ORPHA:93925
HP:0025032	Abnormality of digestive system physiology	7050	TGIF1	ORPHA:220386
HP:0025032	Abnormality of digestive system physiology	4838	NODAL	ORPHA:93926
HP:0025032	Abnormality of digestive system physiology	4838	NODAL	ORPHA:93924
HP:0025032	Abnormality of digestive system physiology	4838	NODAL	ORPHA:93925
HP:0025032	Abnormality of digestive system physiology	4838	NODAL	ORPHA:220386
HP:0025032	Abnormality of digestive system physiology	6469	SHH	ORPHA:93926
HP:0025032	Abnormality of digestive system physiology	6469	SHH	ORPHA:93924
HP:0025032	Abnormality of digestive system physiology	6469	SHH	ORPHA:93925
HP:0025032	Abnormality of digestive system physiology	6469	SHH	ORPHA:220386
HP:0025032	Abnormality of digestive system physiology	7546	ZIC2	ORPHA:93926
HP:0025032	Abnormality of digestive system physiology	7546	ZIC2	ORPHA:93924
HP:0025032	Abnormality of digestive system physiology	7546	ZIC2	ORPHA:93925
HP:0025032	Abnormality of digestive system physiology	7546	ZIC2	ORPHA:220386
HP:0025032	Abnormality of digestive system physiology	6491	STIL	ORPHA:93926
HP:0025032	Abnormality of digestive system physiology	6491	STIL	ORPHA:93924
HP:0025032	Abnormality of digestive system physiology	6491	STIL	ORPHA:93925
HP:0025032	Abnormality of digestive system physiology	6491	STIL	ORPHA:220386
HP:0025032	Abnormality of digestive system physiology	2619	GAS1	ORPHA:93926
HP:0025032	Abnormality of digestive system physiology	2619	GAS1	ORPHA:93924
HP:0025032	Abnormality of digestive system physiology	2619	GAS1	ORPHA:93925
HP:0025032	Abnormality of digestive system physiology	2619	GAS1	ORPHA:220386
HP:0025032	Abnormality of digestive system physiology	84976	DISP1	ORPHA:93926
HP:0025032	Abnormality of digestive system physiology	84976	DISP1	ORPHA:93924
HP:0025032	Abnormality of digestive system physiology	84976	DISP1	ORPHA:93925
HP:0025032	Abnormality of digestive system physiology	84976	DISP1	ORPHA:220386
HP:0025032	Abnormality of digestive system physiology	2736	GLI2	ORPHA:93926
HP:0025032	Abnormality of digestive system physiology	2736	GLI2	ORPHA:93924
HP:0025032	Abnormality of digestive system physiology	2736	GLI2	ORPHA:93925
HP:0025032	Abnormality of digestive system physiology	2736	GLI2	ORPHA:95494
HP:0025032	Abnormality of digestive system physiology	2736	GLI2	ORPHA:220386
HP:0025032	Abnormality of digestive system physiology	8928	FOXH1	ORPHA:93926
HP:0025032	Abnormality of digestive system physiology	8928	FOXH1	ORPHA:93924
HP:0025032	Abnormality of digestive system physiology	8928	FOXH1	ORPHA:93925
HP:0025032	Abnormality of digestive system physiology	8928	FOXH1	ORPHA:220386
HP:0025032	Abnormality of digestive system physiology	6997	CRIPTO	ORPHA:93926
HP:0025032	Abnormality of digestive system physiology	6997	CRIPTO	ORPHA:93924
HP:0025032	Abnormality of digestive system physiology	6997	CRIPTO	ORPHA:93925
HP:0025032	Abnormality of digestive system physiology	6997	CRIPTO	ORPHA:220386
HP:0025032	Abnormality of digestive system physiology	5727	PTCH1	ORPHA:93926
HP:0025032	Abnormality of digestive system physiology	5727	PTCH1	ORPHA:93924
HP:0025032	Abnormality of digestive system physiology	5727	PTCH1	ORPHA:93925
HP:0025032	Abnormality of digestive system physiology	5727	PTCH1	ORPHA:220386
HP:0025032	Abnormality of digestive system physiology	50937	CDON	ORPHA:93926
HP:0025032	Abnormality of digestive system physiology	50937	CDON	ORPHA:93924
HP:0025032	Abnormality of digestive system physiology	50937	CDON	ORPHA:93925
HP:0025032	Abnormality of digestive system physiology	50937	CDON	ORPHA:220386
HP:0025032	Abnormality of digestive system physiology	60495	HPSE2	ORPHA:2704
HP:0025032	Abnormality of digestive system physiology	60495	HPSE2	OMIM:236730
HP:0025032	Abnormality of digestive system physiology	2260	FGFR1	ORPHA:93924
HP:0025032	Abnormality of digestive system physiology	2260	FGFR1	ORPHA:220386
HP:0025032	Abnormality of digestive system physiology	2260	FGFR1	ORPHA:3157
HP:0025032	Abnormality of digestive system physiology	23007	PLCH1	ORPHA:93925
HP:0025032	Abnormality of digestive system physiology	10735	STAG2	ORPHA:93925
HP:0025032	Abnormality of digestive system physiology	10735	STAG2	ORPHA:220386
HP:0025032	Abnormality of digestive system physiology	25942	SIN3A	OMIM:613406
HP:0025032	Abnormality of digestive system physiology	27235	COQ2	ORPHA:98933
HP:0025032	Abnormality of digestive system physiology	27235	COQ2	ORPHA:227510
HP:0025032	Abnormality of digestive system physiology	26834	RNU4-2	OMIM:620851
HP:0025032	Abnormality of digestive system physiology	8493	PPM1D	OMIM:617450
HP:0025032	Abnormality of digestive system physiology	23126	POGZ	OMIM:616364
HP:0025032	Abnormality of digestive system physiology	23259	DDHD2	OMIM:615033
HP:0025032	Abnormality of digestive system physiology	5626	PROP1	ORPHA:226307
HP:0025032	Abnormality of digestive system physiology	5626	PROP1	ORPHA:95494
HP:0025032	Abnormality of digestive system physiology	5626	PROP1	ORPHA:90695
HP:0025032	Abnormality of digestive system physiology	89884	LHX4	ORPHA:226307
HP:0025032	Abnormality of digestive system physiology	89884	LHX4	ORPHA:95494
HP:0025032	Abnormality of digestive system physiology	8022	LHX3	ORPHA:226307
HP:0025032	Abnormality of digestive system physiology	5449	POU1F1	ORPHA:226307
HP:0025032	Abnormality of digestive system physiology	5449	POU1F1	ORPHA:95494
HP:0025032	Abnormality of digestive system physiology	8820	HESX1	ORPHA:226307
HP:0025032	Abnormality of digestive system physiology	8820	HESX1	ORPHA:95494
HP:0025032	Abnormality of digestive system physiology	8820	HESX1	ORPHA:3157
HP:0025032	Abnormality of digestive system physiology	285175	UNC80	OMIM:616801
HP:0025032	Abnormality of digestive system physiology	285175	UNC80	ORPHA:371364
HP:0025032	Abnormality of digestive system physiology	4191	MDH2	OMIM:617339
HP:0025032	Abnormality of digestive system physiology	5590	PRKCZ	ORPHA:1606
HP:0025032	Abnormality of digestive system physiology	2563	GABRD	ORPHA:1606
HP:0025032	Abnormality of digestive system physiology	23013	SPEN	ORPHA:1606
HP:0025032	Abnormality of digestive system physiology	23013	SPEN	OMIM:619312
HP:0025032	Abnormality of digestive system physiology	8510	MMP23B	ORPHA:1606
HP:0025032	Abnormality of digestive system physiology	7798	LUZP1	ORPHA:1606
HP:0025032	Abnormality of digestive system physiology	6497	SKI	ORPHA:1606
HP:0025032	Abnormality of digestive system physiology	10630	PDPN	ORPHA:1606
HP:0025032	Abnormality of digestive system physiology	3339	HSPG2	ORPHA:1606
HP:0025032	Abnormality of digestive system physiology	10277	UBE4B	ORPHA:1606
HP:0025032	Abnormality of digestive system physiology	8514	KCNAB2	ORPHA:1606
HP:0025032	Abnormality of digestive system physiology	473	RERE	ORPHA:1606
HP:0025032	Abnormality of digestive system physiology	63976	PRDM16	ORPHA:1606
HP:0025032	Abnormality of digestive system physiology	54897	CASZ1	ORPHA:1606
HP:0025032	Abnormality of digestive system physiology	7337	UBE3A	OMIM:105830
HP:0025032	Abnormality of digestive system physiology	7337	UBE3A	ORPHA:98794
HP:0025032	Abnormality of digestive system physiology	100134444	KCNJ18	ORPHA:79102
HP:0025032	Abnormality of digestive system physiology	2556	GABRA3	ORPHA:79102
HP:0025032	Abnormality of digestive system physiology	779	CACNA1S	ORPHA:79102
HP:0025032	Abnormality of digestive system physiology	6609	SMPD1	OMIM:257200
HP:0025032	Abnormality of digestive system physiology	3170	FOXA2	ORPHA:95494
HP:0025032	Abnormality of digestive system physiology	5015	OTX2	ORPHA:95494
HP:0025032	Abnormality of digestive system physiology	5015	OTX2	ORPHA:3157
HP:0025032	Abnormality of digestive system physiology	6942	TCF20	OMIM:618430
HP:0025032	Abnormality of digestive system physiology	4665	NAB2	ORPHA:2126
HP:0025032	Abnormality of digestive system physiology	6778	STAT6	ORPHA:2126
HP:0025032	Abnormality of digestive system physiology	50506	DUOX2	ORPHA:226316
HP:0025032	Abnormality of digestive system physiology	50506	DUOX2	ORPHA:95716
HP:0025032	Abnormality of digestive system physiology	51085	MLXIPL	OMIM:194050
HP:0025032	Abnormality of digestive system physiology	51322	WAC	ORPHA:284169
HP:0025032	Abnormality of digestive system physiology	51322	WAC	OMIM:616708
HP:0025032	Abnormality of digestive system physiology	51322	WAC	ORPHA:466950
HP:0025032	Abnormality of digestive system physiology	26047	CNTNAP2	OMIM:610042
HP:0025032	Abnormality of digestive system physiology	2678	GGT1	OMIM:231950
HP:0025032	Abnormality of digestive system physiology	6528	SLC5A5	OMIM:274400
HP:0025032	Abnormality of digestive system physiology	6528	SLC5A5	ORPHA:95716
HP:0025032	Abnormality of digestive system physiology	3756	KCNH1	OMIM:611816
HP:0025032	Abnormality of digestive system physiology	3756	KCNH1	ORPHA:420561
HP:0025032	Abnormality of digestive system physiology	84978	FRMD5	OMIM:620094
HP:0025032	Abnormality of digestive system physiology	81839	VANGL1	OMIM:600145
HP:0025032	Abnormality of digestive system physiology	6595	SMARCA2	OMIM:601358
HP:0025032	Abnormality of digestive system physiology	55023	PHIP	ORPHA:589905
HP:0025032	Abnormality of digestive system physiology	8621	CDK13	OMIM:617360
HP:0025032	Abnormality of digestive system physiology	51142	CHCHD2	OMIM:616710
HP:0025032	Abnormality of digestive system physiology	284119	CAVIN1	OMIM:613327
HP:0025032	Abnormality of digestive system physiology	57165	GJC2	OMIM:613206
HP:0025032	Abnormality of digestive system physiology	196528	ARID2	OMIM:617808
HP:0025032	Abnormality of digestive system physiology	4001	LMNB1	ORPHA:99027
HP:0025032	Abnormality of digestive system physiology	4001	LMNB1	OMIM:169500
HP:0025032	Abnormality of digestive system physiology	846	CASR	OMIM:239200
HP:0025032	Abnormality of digestive system physiology	6658	SOX3	ORPHA:90695
HP:0025032	Abnormality of digestive system physiology	6658	SOX3	ORPHA:3157
HP:0025032	Abnormality of digestive system physiology	1859	DYRK1A	ORPHA:268261
HP:0025032	Abnormality of digestive system physiology	2290	FOXG1	OMIM:613454
HP:0025032	Abnormality of digestive system physiology	23394	ADNP	OMIM:615873
HP:0025032	Abnormality of digestive system physiology	9256	TSPOAP1	ORPHA:101150
HP:0025032	Abnormality of digestive system physiology	7054	TH	ORPHA:101150
HP:0025032	Abnormality of digestive system physiology	23028	KDM1A	OMIM:616728
HP:0025032	Abnormality of digestive system physiology	2258	FGF13	OMIM:301058
HP:0025032	Abnormality of digestive system physiology	1387	CREBBP	ORPHA:353281
HP:0025032	Abnormality of digestive system physiology	1387	CREBBP	OMIM:180849
HP:0025032	Abnormality of digestive system physiology	1387	CREBBP	ORPHA:353277
HP:0025032	Abnormality of digestive system physiology	1294	COL7A1	OMIM:226600
HP:0025032	Abnormality of digestive system physiology	1294	COL7A1	ORPHA:89842
HP:0025032	Abnormality of digestive system physiology	7200	TRH	OMIM:275120
HP:0025032	Abnormality of digestive system physiology	2033	EP300	ORPHA:353284
HP:0025032	Abnormality of digestive system physiology	2033	EP300	OMIM:180849
HP:0025032	Abnormality of digestive system physiology	4286	MITF	ORPHA:897
HP:0025032	Abnormality of digestive system physiology	6663	SOX10	ORPHA:897
HP:0025032	Abnormality of digestive system physiology	6663	SOX10	ORPHA:163746
HP:0025032	Abnormality of digestive system physiology	5172	SLC26A4	ORPHA:95720
HP:0025032	Abnormality of digestive system physiology	5172	SLC26A4	ORPHA:95713
HP:0025032	Abnormality of digestive system physiology	4297	KMT2A	OMIM:605130
HP:0025032	Abnormality of digestive system physiology	1725	DHPS	OMIM:618480
HP:0025032	Abnormality of digestive system physiology	166378	AFG2A	ORPHA:457351
HP:0025032	Abnormality of digestive system physiology	405753	DUOXA2	ORPHA:95716
HP:0025032	Abnormality of digestive system physiology	7038	TG	ORPHA:95716
HP:0025032	Abnormality of digestive system physiology	7173	TPO	ORPHA:95716
HP:0025032	Abnormality of digestive system physiology	389434	IYD	ORPHA:95716
HP:0025032	Abnormality of digestive system physiology	7080	NKX2-1	ORPHA:95713
HP:0025032	Abnormality of digestive system physiology	1482	NKX2-5	ORPHA:95713
HP:0025032	Abnormality of digestive system physiology	1482	NKX2-5	ORPHA:95712
HP:0025032	Abnormality of digestive system physiology	2304	FOXE1	ORPHA:95713
HP:0025032	Abnormality of digestive system physiology	6336	SCN10A	ORPHA:46348
HP:0025032	Abnormality of digestive system physiology	9378	NRXN1	OMIM:614325
HP:0025032	Abnormality of digestive system physiology	1312	COMT	ORPHA:567
HP:0025032	Abnormality of digestive system physiology	221037	JMJD1C	ORPHA:567
HP:0025032	Abnormality of digestive system physiology	2812	GP1BB	ORPHA:567
HP:0025032	Abnormality of digestive system physiology	6239	RREB1	ORPHA:567
HP:0025032	Abnormality of digestive system physiology	6899	TBX1	ORPHA:567
HP:0025032	Abnormality of digestive system physiology	7290	HIRA	ORPHA:567
HP:0025032	Abnormality of digestive system physiology	9632	SEC24C	ORPHA:567
HP:0025032	Abnormality of digestive system physiology	7353	UFD1	ORPHA:567
HP:0025032	Abnormality of digestive system physiology	421	ARVCF	ORPHA:567
HP:0025032	Abnormality of digestive system physiology	7703	PCGF2	OMIM:618371
HP:0025032	Abnormality of digestive system physiology	23111	SPART	ORPHA:101000
HP:0025032	Abnormality of digestive system physiology	6907	TBL1X	OMIM:301033
HP:0025032	Abnormality of digestive system physiology	54681	P4HTM	OMIM:618493
HP:0025032	Abnormality of digestive system physiology	1822	ATN1	OMIM:618494
HP:0025032	Abnormality of digestive system physiology	7067	THRA	OMIM:614450
HP:0025032	Abnormality of digestive system physiology	1974	EIF4A2	OMIM:620455
HP:0025032	Abnormality of digestive system physiology	6874	TAF4	OMIM:620450
HP:0025032	Abnormality of digestive system physiology	64864	RFX7	OMIM:620330
HP:0025032	Abnormality of digestive system physiology	5977	DPF2	OMIM:618027
HP:0025032	Abnormality of digestive system physiology	94005	PIGS	OMIM:618143
HP:0025032	Abnormality of digestive system physiology	6711	SPTBN1	OMIM:619475
HP:0025032	Abnormality of digestive system physiology	1497	CTNS	ORPHA:411629
HP:0025032	Abnormality of digestive system physiology	2887	GRB10	ORPHA:96182
HP:0025032	Abnormality of digestive system physiology	1457	CSNK2A1	OMIM:617062
HP:0025032	Abnormality of digestive system physiology	2222	FDFT1	OMIM:618156
HP:0025032	Abnormality of digestive system physiology	6872	TAF1	OMIM:300966
HP:0025032	Abnormality of digestive system physiology	57688	ZSWIM6	OMIM:617865
HP:0025032	Abnormality of digestive system physiology	55164	SHQ1	OMIM:619922
HP:0025032	Abnormality of digestive system physiology	6299	SALL1	ORPHA:857
HP:0025032	Abnormality of digestive system physiology	51339	DACT1	ORPHA:857
HP:0025032	Abnormality of digestive system physiology	1759	DNM1	OMIM:620352
HP:0025032	Abnormality of digestive system physiology	23387	SIK3	OMIM:618162
HP:0025032	Abnormality of digestive system physiology	1650	DDOST	ORPHA:300536
HP:0025032	Abnormality of digestive system physiology	6904	TBCD	OMIM:617193
HP:0025032	Abnormality of digestive system physiology	1512	CTSH	ORPHA:2073
HP:0025032	Abnormality of digestive system physiology	5032	P2RY11	ORPHA:2073
HP:0025032	Abnormality of digestive system physiology	4340	MOG	ORPHA:2073
HP:0025032	Abnormality of digestive system physiology	3060	HCRT	ORPHA:2073
HP:0025032	Abnormality of digestive system physiology	22891	ZNF365	ORPHA:2073
HP:0025032	Abnormality of digestive system physiology	7292	TNFSF4	ORPHA:2073
HP:0025032	Abnormality of digestive system physiology	10479	SLC9A6	ORPHA:85278
HP:0025032	Abnormality of digestive system physiology	738	VPS51	OMIM:618606
HP:0025032	Abnormality of digestive system physiology	9757	KMT2B	OMIM:619934
HP:0025032	Abnormality of digestive system physiology	6340	SCNN1G	ORPHA:526
HP:0025032	Abnormality of digestive system physiology	6338	SCNN1B	ORPHA:526
HP:0025032	Abnormality of digestive system physiology	10225	CD96	ORPHA:1308
HP:0025032	Abnormality of digestive system physiology	9203	ZMYM3	OMIM:301111
HP:0025032	Abnormality of digestive system physiology	2902	GRIN1	OMIM:614254
HP:0025032	Abnormality of digestive system physiology	4287	ATXN3	OMIM:168600
HP:0025032	Abnormality of digestive system physiology	2629	GBA1	OMIM:168600
HP:0025032	Abnormality of digestive system physiology	126	ADH1C	OMIM:168600
HP:0025032	Abnormality of digestive system physiology	4137	MAPT	OMIM:168600
HP:0025032	Abnormality of digestive system physiology	4576	MT-TT	OMIM:168600
HP:0025032	Abnormality of digestive system physiology	9627	SNCAIP	OMIM:168600
HP:0025032	Abnormality of digestive system physiology	6908	TBP	OMIM:168600
HP:0025032	Abnormality of digestive system physiology	4929	NR4A2	OMIM:168600
HP:0025032	Abnormality of digestive system physiology	6311	ATXN2	OMIM:168600
HP:0025032	Abnormality of digestive system physiology	6315	ATXN8OS	OMIM:168600
HP:0025032	Abnormality of digestive system physiology	55294	FBXW7	OMIM:620012
HP:0025032	Abnormality of digestive system physiology	128674	PROKR2	ORPHA:3157
HP:0025032	Abnormality of digestive system physiology	6657	SOX2	ORPHA:3157
HP:0025032	Abnormality of digestive system physiology	9915	ARNT2	ORPHA:3157
HP:0025032	Abnormality of digestive system physiology	115908	CTHRC1	OMIM:614266
HP:0025032	Abnormality of digestive system physiology	4481	MSR1	OMIM:614266
HP:0025032	Abnormality of digestive system physiology	4897	NRCAM	OMIM:619833
HP:0025032	Abnormality of digestive system physiology	161582	DNAAF4	OMIM:615482
HP:0025032	Abnormality of digestive system physiology	84520	GON7	OMIM:619603
HP:0025032	Abnormality of digestive system physiology	7020	TFAP2A	OMIM:113620
HP:0025032	Abnormality of digestive system physiology	10484	SEC23A	OMIM:607812
HP:0025032	Abnormality of digestive system physiology	22872	SEC31A	OMIM:618651
HP:0025032	Abnormality of digestive system physiology	9895	TECPR2	OMIM:615031
HP:0025032	Abnormality of digestive system physiology	3786	KCNQ3	ORPHA:1949
HP:0025032	Abnormality of digestive system physiology	9772	TMEM94	OMIM:618316
HP:0025032	Abnormality of digestive system physiology	54941	RNF125	OMIM:616260
HP:0025032	Abnormality of digestive system physiology	1642	DDB1	OMIM:619426
HP:0025032	Abnormality of digestive system physiology	9900	SV2A	OMIM:620772
HP:0025032	Abnormality of digestive system physiology	6477	SIAH1	OMIM:619314
HP:0025032	Abnormality of digestive system physiology	64801	ARV1	OMIM:617020
HP:0025032	Abnormality of digestive system physiology	5831	PYCR1	OMIM:612940
HP:0025032	Abnormality of digestive system physiology	51079	NDUFA13	OMIM:618249
HP:0025032	Abnormality of digestive system physiology	9496	TBX4	ORPHA:261279
HP:0025032	Abnormality of digestive system physiology	10681	GNB5	OMIM:617173
HP:0025032	Abnormality of digestive system physiology	10681	GNB5	OMIM:617182
HP:0025032	Abnormality of digestive system physiology	10681	GNB5	ORPHA:542306
HP:0025032	Abnormality of digestive system physiology	2077	ERF	OMIM:617180
HP:0025032	Abnormality of digestive system physiology	5058	PAK1	OMIM:618158
HP:0025032	Abnormality of digestive system physiology	80267	EDEM3	OMIM:619493
HP:0025032	Abnormality of digestive system physiology	4081	MAB21L1	ORPHA:495875
HP:0025032	Abnormality of digestive system physiology	283450	HECTD4	OMIM:620250
HP:0025032	Abnormality of digestive system physiology	8506	CNTNAP1	OMIM:618186
HP:0025032	Abnormality of digestive system physiology	429	ASCL1	ORPHA:99803
HP:0025032	Abnormality of digestive system physiology	1136	CHRNA3	OMIM:191800
HP:0025032	Abnormality of digestive system physiology	6440	SFTPC	ORPHA:2032
HP:0025032	Abnormality of digestive system physiology	729238	SFTPA2	ORPHA:2032
HP:0025032	Abnormality of digestive system physiology	653509	SFTPA1	ORPHA:2032
HP:0025032	Abnormality of digestive system physiology	21	ABCA3	ORPHA:2032
HP:0025032	Abnormality of digestive system physiology	1832	DSP	ORPHA:2032
HP:0025032	Abnormality of digestive system physiology	727897	MUC5B	ORPHA:2032
HP:0025032	Abnormality of digestive system physiology	10144	FAM13A	ORPHA:2032
HP:0025032	Abnormality of digestive system physiology	23250	ATP11A	ORPHA:2032
HP:0025032	Abnormality of digestive system physiology	8546	AP3B1	OMIM:608233
HP:0025032	Abnormality of digestive system physiology	132158	GLYCTK	OMIM:220120
HP:0025032	Abnormality of digestive system physiology	53834	FGFRL1	OMIM:194190
HP:0025032	Abnormality of digestive system physiology	25923	ATL3	ORPHA:36386
HP:0025032	Abnormality of digestive system physiology	9517	SPTLC2	ORPHA:36386
HP:0025032	Abnormality of digestive system physiology	51062	ATL1	ORPHA:36386
HP:0025032	Abnormality of digestive system physiology	375	ARF1	ORPHA:98892
HP:0025032	Abnormality of digestive system physiology	4131	MAP1B	ORPHA:98892
HP:0025032	Abnormality of digestive system physiology	160418	TMTC3	ORPHA:98892
HP:0025032	Abnormality of digestive system physiology	10564	ARFGEF2	ORPHA:98892
HP:0025032	Abnormality of digestive system physiology	55780	ERMARD	ORPHA:98892
HP:0025032	Abnormality of digestive system physiology	7840	ALMS1	ORPHA:64
HP:0025032	Abnormality of digestive system physiology	56006	SMG9	OMIM:616920
HP:0025032	Abnormality of digestive system physiology	23137	SMC5	OMIM:620185
HP:0025032	Abnormality of digestive system physiology	58508	KMT2C	ORPHA:261652
HP:0025032	Abnormality of digestive system physiology	11151	CORO1A	OMIM:615401
HP:0025032	Abnormality of digestive system physiology	6709	SPTAN1	OMIM:613477
HP:0025032	Abnormality of digestive system physiology	84693	MCEE	OMIM:251120
HP:0025032	Abnormality of digestive system physiology	7291	TWIST1	OMIM:617746
HP:0025032	Abnormality of digestive system physiology	139285	AMER1	OMIM:300373
HP:0025032	Abnormality of digestive system physiology	171023	ASXL1	ORPHA:98850
HP:0025032	Abnormality of digestive system physiology	54790	TET2	ORPHA:98850
HP:0025032	Abnormality of digestive system physiology	867	CBL	ORPHA:98850
HP:0025032	Abnormality of digestive system physiology	861	RUNX1	ORPHA:98850
HP:0025032	Abnormality of digestive system physiology	6427	SRSF2	ORPHA:98850
HP:0025032	Abnormality of digestive system physiology	118429	ANTXR2	ORPHA:2176
HP:0025032	Abnormality of digestive system physiology	7518	XRCC4	ORPHA:99812
HP:0025032	Abnormality of digestive system physiology	3981	LIG4	ORPHA:99812
HP:0025032	Abnormality of digestive system physiology	3981	LIG4	ORPHA:235
HP:0025032	Abnormality of digestive system physiology	80270	HSD3B7	ORPHA:79301
HP:0025032	Abnormality of digestive system physiology	2316	FLNA	ORPHA:99811
HP:0025032	Abnormality of digestive system physiology	4072	EPCAM	ORPHA:144
HP:0025032	Abnormality of digestive system physiology	4072	EPCAM	ORPHA:92050
HP:0025032	Abnormality of digestive system physiology	4292	MLH1	ORPHA:144
HP:0025032	Abnormality of digestive system physiology	5395	PMS2	ORPHA:144
HP:0025032	Abnormality of digestive system physiology	7048	TGFBR2	ORPHA:144
HP:0025032	Abnormality of digestive system physiology	3845	KRAS	ORPHA:144
HP:0025032	Abnormality of digestive system physiology	5290	PIK3CA	ORPHA:144
HP:0025032	Abnormality of digestive system physiology	2956	MSH6	ORPHA:144
HP:0025032	Abnormality of digestive system physiology	5378	PMS1	ORPHA:144
HP:0025032	Abnormality of digestive system physiology	4436	MSH2	ORPHA:144
HP:0025032	Abnormality of digestive system physiology	55630	SLC39A4	ORPHA:37
HP:0025032	Abnormality of digestive system physiology	197131	UBR1	OMIM:243800
HP:0025032	Abnormality of digestive system physiology	197131	UBR1	ORPHA:2315
HP:0025032	Abnormality of digestive system physiology	6514	SLC2A2	OMIM:227810
HP:0025032	Abnormality of digestive system physiology	50674	NEUROG3	ORPHA:83620
HP:0025032	Abnormality of digestive system physiology	64218	SEMA4A	ORPHA:440437
HP:0025032	Abnormality of digestive system physiology	472	ATM	ORPHA:440437
HP:0025032	Abnormality of digestive system physiology	5426	POLE	ORPHA:440437
HP:0025032	Abnormality of digestive system physiology	675	BRCA2	ORPHA:440437
HP:0025032	Abnormality of digestive system physiology	657	BMPR1A	ORPHA:440437
HP:0025032	Abnormality of digestive system physiology	6224	RPS20	ORPHA:440437
HP:0025032	Abnormality of digestive system physiology	4595	MUTYH	ORPHA:440437
HP:0025032	Abnormality of digestive system physiology	5424	POLD1	ORPHA:440437
HP:0025032	Abnormality of digestive system physiology	11200	CHEK2	ORPHA:440437
HP:0025032	Abnormality of digestive system physiology	10525	HYOU1	OMIM:233600
HP:0025032	Abnormality of digestive system physiology	8456	FOXN1	ORPHA:83471
HP:0025032	Abnormality of digestive system physiology	4952	OCRL	ORPHA:534
HP:0025032	Abnormality of digestive system physiology	1536	CYBB	ORPHA:379
HP:0025032	Abnormality of digestive system physiology	4688	NCF2	ORPHA:379
HP:0025032	Abnormality of digestive system physiology	1535	CYBA	ORPHA:379
HP:0025032	Abnormality of digestive system physiology	4689	NCF4	ORPHA:379
HP:0025032	Abnormality of digestive system physiology	653361	NCF1	ORPHA:379
HP:0025032	Abnormality of digestive system physiology	653361	NCF1	ORPHA:904
HP:0025032	Abnormality of digestive system physiology	79415	CYBC1	ORPHA:379
HP:0025032	Abnormality of digestive system physiology	170302	ARX	ORPHA:452
HP:0025032	Abnormality of digestive system physiology	105371045	PERCC1	ORPHA:92050
HP:0025032	Abnormality of digestive system physiology	9663	LPIN2	ORPHA:77297
HP:0025032	Abnormality of digestive system physiology	6023	RMRP	ORPHA:175
HP:0025032	Abnormality of digestive system physiology	6023	RMRP	OMIM:250250
HP:0025032	Abnormality of digestive system physiology	9401	RECQL4	ORPHA:1225
HP:0025032	Abnormality of digestive system physiology	2717	GLA	ORPHA:324
HP:0025032	Abnormality of digestive system physiology	3248	HPGD	ORPHA:2796
HP:0025032	Abnormality of digestive system physiology	6578	SLCO2A1	ORPHA:2796
HP:0025032	Abnormality of digestive system physiology	538	ATP7A	ORPHA:565
HP:0025032	Abnormality of digestive system physiology	2068	ERCC2	OMIM:601675
HP:0025032	Abnormality of digestive system physiology	29128	UHRF1	ORPHA:2268
HP:0025032	Abnormality of digestive system physiology	3070	HELLS	ORPHA:2268
HP:0025032	Abnormality of digestive system physiology	1789	DNMT3B	ORPHA:2268
HP:0025032	Abnormality of digestive system physiology	1789	DNMT3B	OMIM:242860
HP:0025032	Abnormality of digestive system physiology	83879	CDCA7	ORPHA:2268
HP:0025032	Abnormality of digestive system physiology	9841	ZBTB24	ORPHA:2268
HP:0025032	Abnormality of digestive system physiology	113235	SLC46A1	OMIM:229050
HP:0025032	Abnormality of digestive system physiology	175	AGA	ORPHA:93
HP:0025032	Abnormality of digestive system physiology	54888	NSUN2	ORPHA:235
HP:0025032	Abnormality of digestive system physiology	1499	CTNNB1	ORPHA:873
HP:0025032	Abnormality of digestive system physiology	324	APC	ORPHA:873
HP:0025032	Abnormality of digestive system physiology	4261	CIITA	OMIM:209920
HP:0025032	Abnormality of digestive system physiology	222546	RFX6	OMIM:615710
HP:0025032	Abnormality of digestive system physiology	9508	ADAMTS3	ORPHA:2136
HP:0025032	Abnormality of digestive system physiology	147372	CCBE1	ORPHA:2136
HP:0025032	Abnormality of digestive system physiology	79633	FAT4	ORPHA:2136
HP:0025032	Abnormality of digestive system physiology	6804	STX1A	ORPHA:904
HP:0025032	Abnormality of digestive system physiology	6804	STX1A	ORPHA:586
HP:0025032	Abnormality of digestive system physiology	7461	CLIP2	ORPHA:904
HP:0025032	Abnormality of digestive system physiology	84277	DNAJC30	ORPHA:904
HP:0025032	Abnormality of digestive system physiology	8468	FKBP6	ORPHA:904
HP:0025032	Abnormality of digestive system physiology	5982	RFC2	ORPHA:904
HP:0025032	Abnormality of digestive system physiology	2969	GTF2I	ORPHA:904
HP:0025032	Abnormality of digestive system physiology	3984	LIMK1	ORPHA:904
HP:0025032	Abnormality of digestive system physiology	9569	GTF2IRD1	ORPHA:904
HP:0025032	Abnormality of digestive system physiology	155382	VPS37D	ORPHA:904
HP:0025032	Abnormality of digestive system physiology	155368	METTL27	ORPHA:904
HP:0025032	Abnormality of digestive system physiology	114049	BUD23	ORPHA:904
HP:0025032	Abnormality of digestive system physiology	7458	EIF4H	ORPHA:904
HP:0025032	Abnormality of digestive system physiology	84163	GTF2IRD2	ORPHA:904
HP:0025032	Abnormality of digestive system physiology	26608	TBL2	ORPHA:904
HP:0025032	Abnormality of digestive system physiology	135886	TMEM270	ORPHA:904
HP:0025032	Abnormality of digestive system physiology	9031	BAZ1B	ORPHA:904
HP:0025032	Abnormality of digestive system physiology	2006	ELN	ORPHA:904
HP:0025032	Abnormality of digestive system physiology	1890	TYMP	OMIM:603041
HP:0025032	Abnormality of digestive system physiology	5428	POLG	OMIM:603041
HP:0025032	Abnormality of digestive system physiology	5428	POLG	OMIM:613662
HP:0025032	Abnormality of digestive system physiology	493856	CISD2	ORPHA:3463
HP:0025032	Abnormality of digestive system physiology	7466	WFS1	ORPHA:3463
HP:0025032	Abnormality of digestive system physiology	6523	SLC5A1	OMIM:606824
HP:0025032	Abnormality of digestive system physiology	4210	MEFV	ORPHA:342
HP:0025032	Abnormality of digestive system physiology	4210	MEFV	ORPHA:117
HP:0025032	Abnormality of digestive system physiology	2947	GSTM3	ORPHA:586
HP:0025032	Abnormality of digestive system physiology	7040	TGFB1	ORPHA:586
HP:0025032	Abnormality of digestive system physiology	2729	GCLC	ORPHA:586
HP:0025032	Abnormality of digestive system physiology	1084	CEACAM3	ORPHA:586
HP:0025032	Abnormality of digestive system physiology	6556	SLC11A1	ORPHA:586
HP:0025032	Abnormality of digestive system physiology	51164	DCTN4	ORPHA:586
HP:0025032	Abnormality of digestive system physiology	3783	KCNN4	ORPHA:586
HP:0025032	Abnormality of digestive system physiology	4282	MIF	ORPHA:586
HP:0025032	Abnormality of digestive system physiology	1909	EDNRA	ORPHA:586
HP:0025032	Abnormality of digestive system physiology	6550	SLC9A3	ORPHA:586
HP:0025032	Abnormality of digestive system physiology	3162	HMOX1	ORPHA:586
HP:0025032	Abnormality of digestive system physiology	115019	SLC26A9	ORPHA:586
HP:0025032	Abnormality of digestive system physiology	3077	HFE	ORPHA:586
HP:0025032	Abnormality of digestive system physiology	11254	SLC6A14	ORPHA:586
HP:0025032	Abnormality of digestive system physiology	5265	SERPINA1	ORPHA:586
HP:0025032	Abnormality of digestive system physiology	1080	CFTR	ORPHA:586
HP:0025032	Abnormality of digestive system physiology	22802	CLCA4	ORPHA:586
HP:0025032	Abnormality of digestive system physiology	4680	CEACAM6	ORPHA:586
HP:0025032	Abnormality of digestive system physiology	5244	ABCB4	OMIM:602347
HP:0025032	Abnormality of digestive system physiology	8567	MADD	OMIM:619004
HP:0025032	Abnormality of digestive system physiology	6288	SAA1	ORPHA:85445
HP:0025032	Abnormality of digestive system physiology	57570	TRMT5	OMIM:616539
HP:0025032	Abnormality of digestive system physiology	3662	IRF4	ORPHA:3452
HP:0025032	Abnormality of digestive system physiology	695	BTK	ORPHA:47
HP:0025032	Abnormality of digestive system physiology	811	CALR	ORPHA:131
HP:0025032	Abnormality of digestive system physiology	3717	JAK2	ORPHA:131
HP:0025032	Abnormality of digestive system physiology	2153	F5	ORPHA:131
HP:0025032	Abnormality of digestive system physiology	5122	PCSK1	OMIM:600955
HP:0025032	Abnormality of digestive system physiology	326	AIRE	OMIM:240300
HP:0025032	Abnormality of digestive system physiology	1758	DMP1	ORPHA:289176
HP:0025032	Abnormality of digestive system physiology	5167	ENPP1	ORPHA:289176
HP:0025032	Abnormality of digestive system physiology	340024	SLC6A19	ORPHA:2116
HP:0025032	Abnormality of digestive system physiology	57393	CLTRN	ORPHA:2116
HP:0025032	Abnormality of digestive system physiology	50943	FOXP3	ORPHA:37042
HP:0025032	Abnormality of digestive system physiology	11181	TREH	ORPHA:103909
HP:0025032	Abnormality of digestive system physiology	6476	SI	OMIM:222900
HP:0025032	Abnormality of digestive system physiology	4615	MYD88	ORPHA:33226
HP:0025032	Abnormality of digestive system physiology	1604	CD55	OMIM:226300
HP:0025032	Abnormality of digestive system physiology	80169	CTC1	ORPHA:1775
HP:0025032	Abnormality of digestive system physiology	26277	TINF2	ORPHA:1775
HP:0025032	Abnormality of digestive system physiology	55651	NHP2	ORPHA:1775
HP:0025032	Abnormality of digestive system physiology	79650	USB1	ORPHA:1775
HP:0025032	Abnormality of digestive system physiology	55135	WRAP53	ORPHA:1775
HP:0025032	Abnormality of digestive system physiology	51750	RTEL1	ORPHA:1775
HP:0025032	Abnormality of digestive system physiology	4869	NPM1	ORPHA:1775
HP:0025032	Abnormality of digestive system physiology	7012	TERC	ORPHA:1775
HP:0025032	Abnormality of digestive system physiology	55505	NOP10	ORPHA:1775
HP:0025032	Abnormality of digestive system physiology	5073	PARN	ORPHA:1775
HP:0025032	Abnormality of digestive system physiology	7015	TERT	ORPHA:1775
HP:0025032	Abnormality of digestive system physiology	1736	DKC1	ORPHA:1775
HP:0025032	Abnormality of digestive system physiology	7298	TYMS	ORPHA:1775
HP:0025032	Abnormality of digestive system physiology	55315	SLC29A3	ORPHA:168569
HP:0025032	Abnormality of digestive system physiology	1235	CCR6	ORPHA:220393
HP:0025032	Abnormality of digestive system physiology	1490	CCN2	ORPHA:220393
HP:0025032	Abnormality of digestive system physiology	3663	IRF5	ORPHA:220393
HP:0025032	Abnormality of digestive system physiology	857	CAV1	ORPHA:220393
HP:0025032	Abnormality of digestive system physiology	3123	HLA-DRB1	ORPHA:220393
HP:0025032	Abnormality of digestive system physiology	1828	DSG1	OMIM:615508
HP:0025032	Abnormality of digestive system physiology	55670	PEX26	ORPHA:912
HP:0025032	Abnormality of digestive system physiology	5824	PEX19	ORPHA:912
HP:0025032	Abnormality of digestive system physiology	5828	PEX2	ORPHA:912
HP:0025032	Abnormality of digestive system physiology	8504	PEX3	ORPHA:912
HP:0025032	Abnormality of digestive system physiology	8799	PEX11B	ORPHA:912
HP:0025032	Abnormality of digestive system physiology	9409	PEX16	ORPHA:912
HP:0025032	Abnormality of digestive system physiology	5190	PEX6	ORPHA:912
HP:0025032	Abnormality of digestive system physiology	5830	PEX5	ORPHA:912
HP:0025032	Abnormality of digestive system physiology	5189	PEX1	ORPHA:912
HP:0025032	Abnormality of digestive system physiology	5193	PEX12	ORPHA:912
HP:0025032	Abnormality of digestive system physiology	5194	PEX13	ORPHA:912
HP:0025032	Abnormality of digestive system physiology	5195	PEX14	ORPHA:912
HP:0025032	Abnormality of digestive system physiology	5192	PEX10	ORPHA:912
HP:0025032	Abnormality of digestive system physiology	204	AK2	ORPHA:33355
HP:0025032	Abnormality of digestive system physiology	6929	TCF3	ORPHA:33110
HP:0025032	Abnormality of digestive system physiology	7922	SLC39A7	ORPHA:33110
HP:0025032	Abnormality of digestive system physiology	973	CD79A	ORPHA:33110
HP:0025032	Abnormality of digestive system physiology	974	CD79B	ORPHA:33110
HP:0025032	Abnormality of digestive system physiology	6688	SPI1	ORPHA:33110
HP:0025032	Abnormality of digestive system physiology	3543	IGLL1	ORPHA:33110
HP:0025032	Abnormality of digestive system physiology	3507	IGHM	ORPHA:33110
HP:0025032	Abnormality of digestive system physiology	29760	BLNK	ORPHA:33110
HP:0025032	Abnormality of digestive system physiology	5295	PIK3R1	ORPHA:33110
HP:0025032	Abnormality of digestive system physiology	56262	LRRC8A	ORPHA:33110
HP:0025032	Abnormality of digestive system physiology	8085	KMT2D	OMIM:147920
HP:0025032	Abnormality of digestive system physiology	7403	KDM6A	OMIM:147920
HP:0025032	Abnormality of digestive system physiology	149233	IL23R	ORPHA:117
HP:0025032	Abnormality of digestive system physiology	6775	STAT4	ORPHA:117
HP:0025032	Abnormality of digestive system physiology	3586	IL10	ORPHA:117
HP:0025032	Abnormality of digestive system physiology	1230	CCR1	ORPHA:117
HP:0025032	Abnormality of digestive system physiology	355	FAS	ORPHA:117
HP:0025032	Abnormality of digestive system physiology	3592	IL12A	ORPHA:117
HP:0025032	Abnormality of digestive system physiology	101928376	IL12A-AS1	ORPHA:117
HP:0025032	Abnormality of digestive system physiology	3106	HLA-B	ORPHA:117
HP:0025032	Abnormality of digestive system physiology	7099	TLR4	ORPHA:117
HP:0025032	Abnormality of digestive system physiology	3459	IFNGR1	ORPHA:117
HP:0025032	Abnormality of digestive system physiology	720	C4A	ORPHA:117
HP:0025032	Abnormality of digestive system physiology	337867	UBAC2	ORPHA:117
HP:0025032	Abnormality of digestive system physiology	51752	ERAP1	ORPHA:117
HP:0025032	Abnormality of digestive system physiology	8302	KLRC4	ORPHA:117
HP:0025032	Abnormality of digestive system physiology	11005	SPINK5	ORPHA:634
HP:0025032	Abnormality of digestive system physiology	8974	P4HA2	ORPHA:397
HP:0025032	Abnormality of digestive system physiology	144811	LACC1	ORPHA:85414
HP:0025032	Abnormality of digestive system physiology	8573	CASK	OMIM:300908
HP:0025032	Abnormality of digestive system physiology	2539	G6PD	OMIM:300908
HP:0025032	Abnormality of digestive system physiology	5009	OTC	OMIM:311250
HP:0025032	Abnormality of digestive system physiology	2038	EPB42	ORPHA:822
HP:0025032	Abnormality of digestive system physiology	6521	SLC4A1	ORPHA:822
HP:0025032	Abnormality of digestive system physiology	6521	SLC4A1	ORPHA:3202
HP:0025032	Abnormality of digestive system physiology	6710	SPTB	ORPHA:822
HP:0025032	Abnormality of digestive system physiology	6710	SPTB	ORPHA:288
HP:0025032	Abnormality of digestive system physiology	6708	SPTA1	ORPHA:822
HP:0025032	Abnormality of digestive system physiology	6708	SPTA1	ORPHA:288
HP:0025032	Abnormality of digestive system physiology	286	ANK1	ORPHA:822
HP:0025032	Abnormality of digestive system physiology	4233	MET	ORPHA:33402
HP:0025032	Abnormality of digestive system physiology	10686	CLDN16	OMIM:248250
HP:0025032	Abnormality of digestive system physiology	2642	GCGR	OMIM:619290
HP:0025032	Abnormality of digestive system physiology	2642	GCGR	ORPHA:438274
HP:0025032	Abnormality of digestive system physiology	353	APRT	OMIM:614723
HP:0025032	Abnormality of digestive system physiology	6794	STK11	OMIM:175200
HP:0025032	Abnormality of digestive system physiology	6794	STK11	ORPHA:2869
HP:0025032	Abnormality of digestive system physiology	9570	GOSR2	OMIM:620166
HP:0025032	Abnormality of digestive system physiology	84133	ZNRF3	ORPHA:1501
HP:0025032	Abnormality of digestive system physiology	5573	PRKAR1A	ORPHA:1501
HP:0025032	Abnormality of digestive system physiology	5573	PRKAR1A	ORPHA:520
HP:0025032	Abnormality of digestive system physiology	2035	EPB41	ORPHA:288
HP:0025032	Abnormality of digestive system physiology	2995	GYPC	ORPHA:288
HP:0025032	Abnormality of digestive system physiology	2984	GUCY2C	OMIM:614616
HP:0025032	Abnormality of digestive system physiology	1244	ABCC2	ORPHA:234
HP:0025032	Abnormality of digestive system physiology	22900	CARD8	OMIM:619079
HP:0025032	Abnormality of digestive system physiology	540	ATP7B	ORPHA:905
HP:0025032	Abnormality of digestive system physiology	2321	FLT1	ORPHA:275555
HP:0025032	Abnormality of digestive system physiology	219736	STOX1	ORPHA:275555
HP:0025032	Abnormality of digestive system physiology	10699	CORIN	ORPHA:275555
HP:0025032	Abnormality of digestive system physiology	84992	PIGY	OMIM:616809
HP:0025032	Abnormality of digestive system physiology	11330	CTRC	OMIM:167800
HP:0025032	Abnormality of digestive system physiology	11330	CTRC	ORPHA:676
HP:0025032	Abnormality of digestive system physiology	5645	PRSS2	OMIM:167800
HP:0025032	Abnormality of digestive system physiology	5645	PRSS2	ORPHA:676
HP:0025032	Abnormality of digestive system physiology	5644	PRSS1	OMIM:167800
HP:0025032	Abnormality of digestive system physiology	5644	PRSS1	ORPHA:676
HP:0025032	Abnormality of digestive system physiology	6690	SPINK1	OMIM:167800
HP:0025032	Abnormality of digestive system physiology	6690	SPINK1	ORPHA:676
HP:0025032	Abnormality of digestive system physiology	6690	SPINK1	OMIM:608189
HP:0025032	Abnormality of digestive system physiology	9971	NR1H4	ORPHA:69665
HP:0025032	Abnormality of digestive system physiology	11231	SEC63	ORPHA:2924
HP:0025032	Abnormality of digestive system physiology	5589	PRKCSH	ORPHA:2924
HP:0025032	Abnormality of digestive system physiology	4041	LRP5	ORPHA:2924
HP:0025032	Abnormality of digestive system physiology	2521	FUS	ORPHA:99967
HP:0025032	Abnormality of digestive system physiology	1649	DDIT3	ORPHA:99967
HP:0025032	Abnormality of digestive system physiology	19	ABCA1	ORPHA:31150
HP:0025032	Abnormality of digestive system physiology	7234	TRU-TCA1-1	OMIM:620198
HP:0025032	Abnormality of digestive system physiology	654	BMP6	ORPHA:465508
HP:0025032	Abnormality of digestive system physiology	9780	PIEZO1	ORPHA:3202
HP:0025032	Abnormality of digestive system physiology	64241	ABCG8	OMIM:210250
HP:0025032	Abnormality of digestive system physiology	950	SCARB2	ORPHA:77259
HP:0025032	Abnormality of digestive system physiology	2767	GNA11	ORPHA:428
HP:0025032	Abnormality of digestive system physiology	2057	EPOR	ORPHA:90042
HP:0025032	Abnormality of digestive system physiology	53335	BCL11A	ORPHA:251380
HP:0025032	Abnormality of digestive system physiology	10661	KLF1	ORPHA:251380
HP:0025032	Abnormality of digestive system physiology	3047	HBG1	ORPHA:251380
HP:0025032	Abnormality of digestive system physiology	3048	HBG2	ORPHA:251380
HP:0025032	Abnormality of digestive system physiology	5774	PTPN3	ORPHA:70567
HP:0025032	Abnormality of digestive system physiology	6098	ROS1	ORPHA:70567
HP:0025032	Abnormality of digestive system physiology	7248	TSC1	ORPHA:538
HP:0025032	Abnormality of digestive system physiology	7249	TSC2	ORPHA:538
HP:0025032	Abnormality of digestive system physiology	5978	REST	ORPHA:654
HP:0025032	Abnormality of digestive system physiology	129563	DIS3L2	ORPHA:654
HP:0025032	Abnormality of digestive system physiology	9319	TRIP13	ORPHA:654
HP:0025032	Abnormality of digestive system physiology	10155	TRIM28	ORPHA:654
HP:0025032	Abnormality of digestive system physiology	11281	POU6F2	ORPHA:654
HP:0025032	Abnormality of digestive system physiology	2719	GPC3	ORPHA:654
HP:0025032	Abnormality of digestive system physiology	283120	H19	ORPHA:654
HP:0025032	Abnormality of digestive system physiology	4868	NPHS1	ORPHA:656
HP:0025032	Abnormality of digestive system physiology	23607	CD2AP	ORPHA:656
HP:0025032	Abnormality of digestive system physiology	9688	NUP93	ORPHA:656
HP:0025032	Abnormality of digestive system physiology	4643	MYO1E	ORPHA:656
HP:0025032	Abnormality of digestive system physiology	64423	INF2	ORPHA:656
HP:0025032	Abnormality of digestive system physiology	26130	GAPVD1	ORPHA:656
HP:0025032	Abnormality of digestive system physiology	57122	NUP107	ORPHA:656
HP:0025032	Abnormality of digestive system physiology	51479	ANKFY1	ORPHA:656
HP:0025032	Abnormality of digestive system physiology	54443	ANLN	ORPHA:656
HP:0025032	Abnormality of digestive system physiology	5800	PTPRO	ORPHA:656
HP:0025032	Abnormality of digestive system physiology	286204	CRB2	ORPHA:656
HP:0025032	Abnormality of digestive system physiology	23165	NUP205	ORPHA:656
HP:0025032	Abnormality of digestive system physiology	2013	EMP2	ORPHA:656
HP:0025032	Abnormality of digestive system physiology	79023	NUP37	ORPHA:656
HP:0025032	Abnormality of digestive system physiology	51196	PLCE1	ORPHA:656
HP:0025032	Abnormality of digestive system physiology	79902	NUP85	ORPHA:656
HP:0025032	Abnormality of digestive system physiology	1285	COL4A3	ORPHA:656
HP:0025032	Abnormality of digestive system physiology	396	ARHGDIA	ORPHA:656
HP:0025032	Abnormality of digestive system physiology	79934	COQ8B	ORPHA:656
HP:0025032	Abnormality of digestive system physiology	23279	NUP160	ORPHA:656
HP:0025032	Abnormality of digestive system physiology	9863	MAGI2	ORPHA:656
HP:0025032	Abnormality of digestive system physiology	81	ACTN4	ORPHA:656
HP:0025032	Abnormality of digestive system physiology	7225	TRPC6	ORPHA:656
HP:0025032	Abnormality of digestive system physiology	8542	APOL1	ORPHA:656
HP:0025032	Abnormality of digestive system physiology	54885	TBC1D8B	ORPHA:656
HP:0025032	Abnormality of digestive system physiology	7827	NPHS2	ORPHA:656
HP:0025032	Abnormality of digestive system physiology	83478	ARHGAP24	ORPHA:656
HP:0025032	Abnormality of digestive system physiology	23500	DAAM2	ORPHA:656
HP:0025032	Abnormality of digestive system physiology	5076	PAX2	ORPHA:656
HP:0025032	Abnormality of digestive system physiology	55746	NUP133	ORPHA:656
HP:0025032	Abnormality of digestive system physiology	10616	RBCK1	OMIM:615895
HP:0025032	Abnormality of digestive system physiology	55503	TRPV6	ORPHA:676
HP:0025032	Abnormality of digestive system physiology	1357	CPA1	ORPHA:676
HP:0025032	Abnormality of digestive system physiology	650	BMP2	OMIM:235200
HP:0025032	Abnormality of digestive system physiology	54795	TRPM4	ORPHA:871
HP:0025032	Abnormality of digestive system physiology	6324	SCN1B	ORPHA:871
HP:0025032	Abnormality of digestive system physiology	6331	SCN5A	ORPHA:871
HP:0025032	Abnormality of digestive system physiology	1053	CEBPE	OMIM:260570
HP:0025032	Abnormality of digestive system physiology	64840	PORCN	ORPHA:2092
HP:0025032	Abnormality of digestive system physiology	3257	HPS1	OMIM:203300
HP:0025032	Abnormality of digestive system physiology	1056	CEL	OMIM:609812
HP:0025032	Abnormality of digestive system physiology	10585	POMT1	ORPHA:86812
HP:0025032	Abnormality of digestive system physiology	51816	ADA2	OMIM:615688
HP:0025032	Abnormality of digestive system physiology	3426	CFI	ORPHA:244242
HP:0025032	Abnormality of digestive system physiology	4179	CD46	ORPHA:244242
HP:0025032	Abnormality of digestive system physiology	101101692	HELLPAR	ORPHA:244242
HP:0025032	Abnormality of digestive system physiology	91662	NLRP12	OMIM:611762
HP:0025032	Abnormality of digestive system physiology	7428	VHL	ORPHA:892
HP:0025032	Abnormality of digestive system physiology	55898	UNC45A	OMIM:619377
HP:0025032	Abnormality of digestive system physiology	5371	PML	ORPHA:520
HP:0025032	Abnormality of digestive system physiology	5914	RARA	ORPHA:520
HP:0025032	Abnormality of digestive system physiology	359948	IRF2BP2	ORPHA:520
HP:0025032	Abnormality of digestive system physiology	81608	FIP1L1	ORPHA:520
HP:0025032	Abnormality of digestive system physiology	54880	BCOR	ORPHA:520
HP:0025032	Abnormality of digestive system physiology	64859	NABP1	ORPHA:520
HP:0025032	Abnormality of digestive system physiology	6777	STAT5B	ORPHA:520
HP:0025032	Abnormality of digestive system physiology	4926	NUMA1	ORPHA:520
HP:0025032	Abnormality of digestive system physiology	7704	ZBTB16	ORPHA:520
HP:0025032	Abnormality of digestive system physiology	79718	TBL1XR1	ORPHA:520
HP:0025032	Abnormality of digestive system physiology	115286	SLC25A26	OMIM:616794
HP:0025032	Abnormality of digestive system physiology	2693	GHSR	ORPHA:314811
HP:0025032	Abnormality of digestive system physiology	3689	ITGB2	OMIM:116920
HP:0025032	Abnormality of digestive system physiology	3551	IKBKB	OMIM:615592
HP:0025032	Abnormality of digestive system physiology	987	LRBA	OMIM:614700
HP:0025032	Abnormality of digestive system physiology	23149	FCHO1	OMIM:619164
HP:0025032	Abnormality of digestive system physiology	841	CASP8	OMIM:607271
HP:0025032	Abnormality of digestive system physiology	6263	RYR3	OMIM:620310
HP:0025032	Abnormality of digestive system physiology	7037	TFRC	OMIM:616740
HP:0025032	Abnormality of digestive system physiology	537	ATP6AP1	OMIM:300972
HP:0025032	Abnormality of digestive system physiology	84876	ORAI1	OMIM:612782
HP:0025032	Abnormality of digestive system physiology	1777	DNASE2	OMIM:619858
HP:0025032	Abnormality of digestive system physiology	6573	SLC19A1	OMIM:620603
HP:0025032	Abnormality of digestive system physiology	9020	MAP3K14	OMIM:620449
HP:0025032	Abnormality of digestive system physiology	26007	TKFC	OMIM:618805
HP:0025032	Abnormality of digestive system physiology	3572	IL6ST	OMIM:618523
HP:0025032	Abnormality of digestive system physiology	5528	PPP2R5D	OMIM:616355
HP:0025032	Abnormality of digestive system physiology	5528	PPP2R5D	ORPHA:457279
HP:0025032	Abnormality of digestive system physiology	146206	CARMIL2	OMIM:618131
HP:0025032	Abnormality of digestive system physiology	57511	COG6	OMIM:614576
HP:0025032	Abnormality of digestive system physiology	8517	IKBKG	ORPHA:98813
HP:0025032	Abnormality of digestive system physiology	7874	USP7	ORPHA:500055
HP:0025032	Abnormality of digestive system physiology	10043	TOM1	OMIM:619510
HP:0025032	Abnormality of digestive system physiology	54809	SAMD9	OMIM:617053
HP:0025032	Abnormality of digestive system physiology	7737	RNF113A	OMIM:300953
HP:0025032	Abnormality of digestive system physiology	7456	WIPF1	ORPHA:906
HP:0025032	Abnormality of digestive system physiology	55027	HEATR3	OMIM:620072
HP:0025032	Abnormality of digestive system physiology	60468	BACH2	OMIM:618394
HP:0025032	Abnormality of digestive system physiology	200931	SLC51A	OMIM:619484
HP:0025032	Abnormality of digestive system physiology	11311	VPS45	OMIM:615285
HP:0025032	Abnormality of digestive system physiology	83737	ITCH	OMIM:613385
HP:0025032	Abnormality of digestive system physiology	917	CD3G	OMIM:615607
HP:0025032	Abnormality of digestive system physiology	55343	SLC35C1	ORPHA:99843
HP:0025032	Abnormality of digestive system physiology	5966	REL	OMIM:619652
HP:0025032	Abnormality of digestive system physiology	5317	PKP1	ORPHA:158668
HP:0025032	Abnormality of digestive system physiology	5236	PGM1	OMIM:614921
HP:0025032	Abnormality of digestive system physiology	84433	CARD11	OMIM:617638
HP:0025032	Abnormality of digestive system physiology	1794	DOCK2	OMIM:616433
HP:0025032	Abnormality of digestive system physiology	3559	IL2RA	OMIM:606367
HP:0025032	Abnormality of digestive system physiology	318	NUDT2	OMIM:619844
HP:0025032	Abnormality of digestive system physiology	91647	ATPAF2	OMIM:604273
HP:0025032	Abnormality of digestive system physiology	4556	MT-TE	ORPHA:254864
HP:0025032	Abnormality of digestive system physiology	25930	PTPN23	OMIM:618890
HP:0025032	Abnormality of digestive system physiology	55065	SLC52A1	OMIM:615026
HP:0025032	Abnormality of digestive system physiology	9453	GGPS1	OMIM:619518
HP:0025032	Abnormality of digestive system physiology	10084	PQBP1	OMIM:309500
HP:0025032	Abnormality of digestive system physiology	7317	UBA1	ORPHA:1145
HP:0025032	Abnormality of digestive system physiology	2742	GLRA2	OMIM:301076
HP:0025032	Abnormality of digestive system physiology	92482	BBIP1	ORPHA:110
HP:0025032	Abnormality of digestive system physiology	80184	CEP290	ORPHA:110
HP:0025032	Abnormality of digestive system physiology	11020	IFT27	ORPHA:110
HP:0025032	Abnormality of digestive system physiology	582	BBS1	ORPHA:110
HP:0025032	Abnormality of digestive system physiology	49855	SCAPER	ORPHA:110
HP:0025032	Abnormality of digestive system physiology	132320	SCLT1	ORPHA:110
HP:0025032	Abnormality of digestive system physiology	27241	BBS9	ORPHA:110
HP:0025032	Abnormality of digestive system physiology	84984	CEP19	ORPHA:110
HP:0025032	Abnormality of digestive system physiology	22954	TRIM32	ORPHA:110
HP:0025032	Abnormality of digestive system physiology	79738	BBS10	ORPHA:110
HP:0025032	Abnormality of digestive system physiology	123016	TTC8	ORPHA:110
HP:0025032	Abnormality of digestive system physiology	583	BBS2	ORPHA:110
HP:0025032	Abnormality of digestive system physiology	585	BBS4	ORPHA:110
HP:0025032	Abnormality of digestive system physiology	8195	MKKS	ORPHA:110
HP:0025032	Abnormality of digestive system physiology	54585	LZTFL1	ORPHA:110
HP:0025032	Abnormality of digestive system physiology	55212	BBS7	ORPHA:110
HP:0025032	Abnormality of digestive system physiology	166379	BBS12	ORPHA:110
HP:0025032	Abnormality of digestive system physiology	10806	SDCCAG8	ORPHA:110
HP:0025032	Abnormality of digestive system physiology	157657	CFAP418	ORPHA:110
HP:0025032	Abnormality of digestive system physiology	84100	ARL6	ORPHA:110
HP:0025032	Abnormality of digestive system physiology	129880	BBS5	ORPHA:110
HP:0025032	Abnormality of digestive system physiology	331	XIAP	OMIM:300635
HP:0025032	Abnormality of digestive system physiology	331	XIAP	ORPHA:538934
HP:0025032	Abnormality of digestive system physiology	5243	ABCB1	OMIM:612244
HP:0025032	Abnormality of digestive system physiology	2165	F13B	ORPHA:331
HP:0025032	Abnormality of digestive system physiology	2162	F13A1	ORPHA:331
HP:0025032	Abnormality of digestive system physiology	55612	FERMT1	ORPHA:2908
HP:0025032	Abnormality of digestive system physiology	5777	PTPN6	ORPHA:3243
HP:0025032	Abnormality of digestive system physiology	345611	IRGM	OMIM:612278
HP:0025032	Abnormality of digestive system physiology	64858	DCLRE1B	OMIM:620133
HP:0025032	Abnormality of digestive system physiology	2395	FXN	ORPHA:95
HP:0025032	Abnormality of digestive system physiology	445	ASS1	OMIM:215700
HP:0025032	Abnormality of digestive system physiology	1373	CPS1	OMIM:237300
HP:0025032	Abnormality of digestive system physiology	10166	SLC25A15	ORPHA:415
HP:0025032	Abnormality of digestive system physiology	10166	SLC25A15	OMIM:238970
HP:0025032	Abnormality of digestive system physiology	875	CBS	ORPHA:394
HP:0025032	Abnormality of digestive system physiology	4352	MPL	ORPHA:824
HP:0025032	Abnormality of digestive system physiology	2215	FCGR3B	ORPHA:536
HP:0025032	Abnormality of digestive system physiology	3684	ITGAM	ORPHA:536
HP:0025032	Abnormality of digestive system physiology	221895	JAZF1	ORPHA:536
HP:0025032	Abnormality of digestive system physiology	11277	TREX1	ORPHA:536
HP:0025032	Abnormality of digestive system physiology	640	BLK	ORPHA:536
HP:0025032	Abnormality of digestive system physiology	55024	BANK1	ORPHA:536
HP:0025032	Abnormality of digestive system physiology	3500	IGHG1	ORPHA:536
HP:0025032	Abnormality of digestive system physiology	5133	PDCD1	ORPHA:536
HP:0025032	Abnormality of digestive system physiology	2113	ETS1	ORPHA:536
HP:0025032	Abnormality of digestive system physiology	2213	FCGR2B	ORPHA:536
HP:0025032	Abnormality of digestive system physiology	10318	TNIP1	ORPHA:536
HP:0025032	Abnormality of digestive system physiology	7332	UBE2L3	ORPHA:536
HP:0025032	Abnormality of digestive system physiology	721	C4B	ORPHA:536
HP:0025032	Abnormality of digestive system physiology	1773	DNASE1	ORPHA:536
HP:0025032	Abnormality of digestive system physiology	51284	TLR7	ORPHA:536
HP:0025032	Abnormality of digestive system physiology	54899	PXK	ORPHA:536
HP:0025032	Abnormality of digestive system physiology	7128	TNFAIP3	ORPHA:536
HP:0025032	Abnormality of digestive system physiology	383	ARG1	OMIM:207800
HP:0025032	Abnormality of digestive system physiology	27249	MMADHC	ORPHA:79283
HP:0025032	Abnormality of digestive system physiology	3593	IL12B	ORPHA:3287
HP:0025032	Abnormality of digestive system physiology	6945	MLX	ORPHA:3287
HP:0025032	Abnormality of digestive system physiology	9054	NFS1	OMIM:619386
HP:0025032	Abnormality of digestive system physiology	727	C5	OMIM:609536
HP:0025032	Abnormality of digestive system physiology	6603	SMARCD2	OMIM:617475
HP:0025032	Abnormality of digestive system physiology	2811	GP1BA	ORPHA:274
HP:0025032	Abnormality of digestive system physiology	2811	GP1BA	ORPHA:853
HP:0025032	Abnormality of digestive system physiology	2811	GP1BA	OMIM:231200
HP:0025032	Abnormality of digestive system physiology	2815	GP9	ORPHA:274
HP:0025032	Abnormality of digestive system physiology	2815	GP9	OMIM:231200
HP:0025032	Abnormality of digestive system physiology	5351	PLOD1	OMIM:225400
HP:0025032	Abnormality of digestive system physiology	2048	EPHB2	OMIM:618462
HP:0025032	Abnormality of digestive system physiology	7148	TNXB	ORPHA:230839
HP:0025032	Abnormality of digestive system physiology	2158	F9	OMIM:306900
HP:0025032	Abnormality of digestive system physiology	81575	APOLD1	OMIM:620715
HP:0025032	Abnormality of digestive system physiology	843	CASP10	OMIM:603909
HP:0025032	Abnormality of digestive system physiology	2022	ENG	OMIM:187300
HP:0025032	Abnormality of digestive system physiology	2022	ENG	ORPHA:774
HP:0025032	Abnormality of digestive system physiology	3930	LBR	OMIM:613471
HP:0025032	Abnormality of digestive system physiology	3674	ITGA2B	ORPHA:849
HP:0025032	Abnormality of digestive system physiology	3674	ITGA2B	OMIM:273800
HP:0025032	Abnormality of digestive system physiology	3674	ITGA2B	ORPHA:853
HP:0025032	Abnormality of digestive system physiology	3690	ITGB3	ORPHA:849
HP:0025032	Abnormality of digestive system physiology	3690	ITGB3	ORPHA:853
HP:0025032	Abnormality of digestive system physiology	55109	AGGF1	ORPHA:90308
HP:0025032	Abnormality of digestive system physiology	2160	F11	ORPHA:329
HP:0025032	Abnormality of digestive system physiology	2159	F10	ORPHA:328
HP:0025032	Abnormality of digestive system physiology	9103	FCGR2C	ORPHA:3002
HP:0025032	Abnormality of digestive system physiology	2155	F7	ORPHA:327
HP:0025032	Abnormality of digestive system physiology	7450	VWF	OMIM:193400
HP:0025032	Abnormality of digestive system physiology	2243	FGA	ORPHA:98881
HP:0025032	Abnormality of digestive system physiology	2243	FGA	ORPHA:101041
HP:0025032	Abnormality of digestive system physiology	2244	FGB	ORPHA:98881
HP:0025032	Abnormality of digestive system physiology	2244	FGB	ORPHA:101041
HP:0025032	Abnormality of digestive system physiology	2266	FGG	ORPHA:98881
HP:0025032	Abnormality of digestive system physiology	2266	FGG	ORPHA:101041
HP:0025032	Abnormality of digestive system physiology	5054	SERPINE1	ORPHA:465
HP:0025032	Abnormality of digestive system physiology	79991	STN1	OMIM:617341
HP:0025032	Abnormality of digestive system physiology	64131	XYLT1	OMIM:264800
HP:0025032	Abnormality of digestive system physiology	64132	XYLT2	OMIM:264800
HP:0025032	Abnormality of digestive system physiology	3998	LMAN1	ORPHA:35909
HP:0025032	Abnormality of digestive system physiology	90411	MCFD2	ORPHA:35909
HP:0025032	Abnormality of digestive system physiology	3516	RBPJ	ORPHA:974
HP:0025032	Abnormality of digestive system physiology	4851	NOTCH1	ORPHA:974
HP:0025032	Abnormality of digestive system physiology	57514	ARHGAP31	ORPHA:974
HP:0025032	Abnormality of digestive system physiology	57572	DOCK6	ORPHA:974
HP:0025032	Abnormality of digestive system physiology	285203	EOGT	ORPHA:974
HP:0025032	Abnormality of digestive system physiology	54567	DLL4	ORPHA:974
HP:0025032	Abnormality of digestive system physiology	3673	ITGA2	ORPHA:853
HP:0025032	Abnormality of digestive system physiology	135228	CD109	ORPHA:853
HP:0025032	Abnormality of digestive system physiology	2658	GDF2	ORPHA:774
HP:0025032	Abnormality of digestive system physiology	94	ACVRL1	ORPHA:774
HP:0025032	Abnormality of digestive system physiology	2157	F8	ORPHA:169805
HP:0025032	Abnormality of digestive system physiology	2157	F8	ORPHA:169802
HP:0025032	Abnormality of digestive system physiology	2147	F2	OMIM:613679
HP:0025032	Abnormality of digestive system physiology	2184	FAH	OMIM:276700
HP:0025032	Abnormality of digestive system physiology	8328	GFI1B	OMIM:187900
HP:0025032	Abnormality of digestive system physiology	9493	KIF23	ORPHA:98870
HP:0025032	Abnormality of digestive system physiology	29127	RACGAP1	ORPHA:98870
HP:0025032	Abnormality of digestive system physiology	57169	ZNFX1	OMIM:619644
HP:0025032	Abnormality of digestive system physiology	2538	G6PC1	OMIM:232200
HP:0025032	Abnormality of digestive system physiology	55072	RNF31	OMIM:620632
HP:0025032	Abnormality of digestive system physiology	338	APOB	OMIM:615558
HP:0025032	Abnormality of digestive system physiology	123264	SLC51B	OMIM:619481
HP:0025032	Abnormality of digestive system physiology	6729	SRP54	OMIM:618752
HP:0025032	Abnormality of digestive system physiology	6729	SRP54	OMIM:260400
HP:0025032	Abnormality of digestive system physiology	8309	ACOX2	OMIM:617308
HP:0025032	Abnormality of digestive system physiology	23729	SHPK	ORPHA:440713
HP:0025032	Abnormality of digestive system physiology	51651	PTRH2	OMIM:616263
HP:0025032	Abnormality of digestive system physiology	256297	PTF1A	OMIM:615935
HP:0025032	Abnormality of digestive system physiology	55699	IARS2	OMIM:616007
HP:0025032	Abnormality of digestive system physiology	55699	IARS2	ORPHA:436174
HP:0025032	Abnormality of digestive system physiology	763	CA5A	OMIM:615751
HP:0025032	Abnormality of digestive system physiology	728294	D2HGDH	OMIM:600721
HP:0025032	Abnormality of digestive system physiology	11235	PDCD10	ORPHA:221061
HP:0025032	Abnormality of digestive system physiology	83605	CCM2	ORPHA:221061
HP:0025032	Abnormality of digestive system physiology	889	KRIT1	ORPHA:221061
HP:0025032	Abnormality of digestive system physiology	2593	GAMT	OMIM:612736
HP:0025032	Abnormality of digestive system physiology	4511	MT-TC	OMIM:540000
HP:0025032	Abnormality of digestive system physiology	6821	SUOX	OMIM:272300
HP:0025032	Abnormality of digestive system physiology	8884	SLC5A6	OMIM:618973
HP:0025032	Abnormality of digestive system physiology	26585	GREM1	ORPHA:157794
HP:0025032	Abnormality of digestive system physiology	10092	ARPC5	OMIM:620565
HP:0025032	Abnormality of digestive system physiology	3587	IL10RA	OMIM:613148
HP:0025032	Abnormality of digestive system physiology	81858	SHARPIN	OMIM:620795
HP:0025032	Abnormality of digestive system physiology	10020	GNE	ORPHA:3166
HP:0025032	Abnormality of digestive system physiology	291	SLC25A4	ORPHA:254892
HP:0025032	Abnormality of digestive system physiology	56652	TWNK	ORPHA:254892
HP:0025032	Abnormality of digestive system physiology	56652	TWNK	ORPHA:70595
HP:0025032	Abnormality of digestive system physiology	56652	TWNK	OMIM:607459
HP:0025032	Abnormality of digestive system physiology	11232	POLG2	ORPHA:254892
HP:0025032	Abnormality of digestive system physiology	11232	POLG2	OMIM:610131
HP:0025032	Abnormality of digestive system physiology	50484	RRM2B	ORPHA:254892
HP:0025032	Abnormality of digestive system physiology	4629	MYH11	OMIM:619350
HP:0025032	Abnormality of digestive system physiology	6638	SNRPN	ORPHA:177904
HP:0025032	Abnormality of digestive system physiology	6638	SNRPN	ORPHA:177901
HP:0025032	Abnormality of digestive system physiology	6638	SNRPN	ORPHA:98754
HP:0025032	Abnormality of digestive system physiology	4692	NDN	ORPHA:177904
HP:0025032	Abnormality of digestive system physiology	4692	NDN	ORPHA:177901
HP:0025032	Abnormality of digestive system physiology	4692	NDN	ORPHA:98754
HP:0025032	Abnormality of digestive system physiology	54551	MAGEL2	ORPHA:177904
HP:0025032	Abnormality of digestive system physiology	54551	MAGEL2	ORPHA:177901
HP:0025032	Abnormality of digestive system physiology	54551	MAGEL2	ORPHA:98754
HP:0025032	Abnormality of digestive system physiology	4948	OCA2	ORPHA:177904
HP:0025032	Abnormality of digestive system physiology	4948	OCA2	ORPHA:177901
HP:0025032	Abnormality of digestive system physiology	4948	OCA2	ORPHA:98754
HP:0025032	Abnormality of digestive system physiology	72	ACTG2	OMIM:155310
HP:0025032	Abnormality of digestive system physiology	6651	SON	ORPHA:500150
HP:0025032	Abnormality of digestive system physiology	27125	AFF4	OMIM:616368
HP:0025032	Abnormality of digestive system physiology	5885	RAD21	OMIM:611376
HP:0025032	Abnormality of digestive system physiology	6240	RRM1	OMIM:620647
HP:0025032	Abnormality of digestive system physiology	3190	HNRNPK	ORPHA:352665
HP:0025032	Abnormality of digestive system physiology	3190	HNRNPK	ORPHA:453504
HP:0025032	Abnormality of digestive system physiology	4247	MGAT2	ORPHA:79329
HP:0025032	Abnormality of digestive system physiology	219972	MPEG1	OMIM:619223
HP:0025032	Abnormality of digestive system physiology	54968	TMEM70	OMIM:614052
HP:0025032	Abnormality of digestive system physiology	7543	ZFX	OMIM:301118
HP:0025032	Abnormality of digestive system physiology	6885	MAP3K7	OMIM:157800
HP:0025032	Abnormality of digestive system physiology	5610	EIF2AK2	OMIM:618877
HP:0025032	Abnormality of digestive system physiology	54832	VPS13C	ORPHA:2828
HP:0025032	Abnormality of digestive system physiology	11315	PARK7	ORPHA:2828
HP:0025032	Abnormality of digestive system physiology	7345	UCHL1	ORPHA:2828
HP:0025032	Abnormality of digestive system physiology	27429	HTRA2	ORPHA:2828
HP:0025032	Abnormality of digestive system physiology	120892	LRRK2	ORPHA:2828
HP:0025032	Abnormality of digestive system physiology	9829	DNAJC6	ORPHA:2828
HP:0025032	Abnormality of digestive system physiology	6622	SNCA	ORPHA:2828
HP:0025032	Abnormality of digestive system physiology	5420	PODXL	ORPHA:2828
HP:0025032	Abnormality of digestive system physiology	65018	PINK1	ORPHA:2828
HP:0025032	Abnormality of digestive system physiology	8867	SYNJ1	ORPHA:2828
HP:0025032	Abnormality of digestive system physiology	5071	PRKN	ORPHA:2828
HP:0025032	Abnormality of digestive system physiology	815	CAMK2A	OMIM:617798
HP:0025032	Abnormality of digestive system physiology	59335	PRDM12	OMIM:616488
HP:0025032	Abnormality of digestive system physiology	1019	CDK4	ORPHA:99971
HP:0025032	Abnormality of digestive system physiology	4193	MDM2	ORPHA:99971
HP:0025032	Abnormality of digestive system physiology	55148	UBR7	OMIM:619189
HP:0025032	Abnormality of digestive system physiology	356	FASLG	ORPHA:3261
HP:0025032	Abnormality of digestive system physiology	10625	IVNS1ABP	OMIM:618969
HP:0025032	Abnormality of digestive system physiology	338328	GPIHBP1	OMIM:615947
HP:0025032	Abnormality of digestive system physiology	9255	AIMP1	OMIM:260600
HP:0025032	Abnormality of digestive system physiology	26153	KIF26A	OMIM:620156
HP:0025032	Abnormality of digestive system physiology	23446	SLC44A1	OMIM:618868
HP:0025032	Abnormality of digestive system physiology	80199	FUZ	ORPHA:3027
HP:0025032	Abnormality of digestive system physiology	23503	ZFYVE26	OMIM:270700
HP:0025032	Abnormality of digestive system physiology	5354	PLP1	ORPHA:99015
HP:0025032	Abnormality of digestive system physiology	1399	CRKL	ORPHA:261330
HP:0025032	Abnormality of digestive system physiology	5594	MAPK1	ORPHA:261330
HP:0025032	Abnormality of digestive system physiology	79803	HPS6	OMIM:614075
HP:0025032	Abnormality of digestive system physiology	79152	FA2H	ORPHA:171629
HP:0025032	Abnormality of digestive system physiology	28982	FLVCR1	ORPHA:88628
HP:0025032	Abnormality of digestive system physiology	339855	KY	OMIM:617114
HP:0025032	Abnormality of digestive system physiology	7415	VCP	ORPHA:329478
HP:0025032	Abnormality of digestive system physiology	3670	ISL1	ORPHA:93930
HP:0025032	Abnormality of digestive system physiology	2332	FMR1	ORPHA:93256
HP:0025032	Abnormality of digestive system physiology	2332	FMR1	OMIM:300623
HP:0025032	Abnormality of digestive system physiology	25778	DSTYK	ORPHA:101003
HP:0025032	Abnormality of digestive system physiology	6253	RTN2	ORPHA:100993
HP:0025032	Abnormality of digestive system physiology	51271	UBAP1	ORPHA:100993
HP:0025032	Abnormality of digestive system physiology	5654	HTRA1	OMIM:600142
HP:0025032	Abnormality of digestive system physiology	80217	CFAP43	OMIM:236690
HP:0025032	Abnormality of digestive system physiology	23400	ATP13A2	ORPHA:306674
HP:0025032	Abnormality of digestive system physiology	10528	NOP56	ORPHA:276198
HP:0025032	Abnormality of digestive system physiology	9414	TJP2	OMIM:607748
HP:0025032	Abnormality of digestive system physiology	4547	MTTP	ORPHA:14
HP:0025032	Abnormality of digestive system physiology	4547	MTTP	OMIM:200100
HP:0025032	Abnormality of digestive system physiology	6555	SLC10A2	OMIM:613291
HP:0025032	Abnormality of digestive system physiology	8647	ABCB11	OMIM:601847
HP:0025032	Abnormality of digestive system physiology	5406	PNLIP	OMIM:614338
HP:0025032	Abnormality of digestive system physiology	5205	ATP8B1	OMIM:211600
HP:0025032	Abnormality of digestive system physiology	51128	SAR1B	ORPHA:71
HP:0025032	Abnormality of digestive system physiology	23600	AMACR	OMIM:214950
HP:0025032	Abnormality of digestive system physiology	199221	DZIP1L	ORPHA:731
HP:0025032	Abnormality of digestive system physiology	5314	PKHD1	ORPHA:731
HP:0025032	Abnormality of digestive system physiology	9420	CYP7B1	ORPHA:79302
HP:0025032	Abnormality of digestive system physiology	134218	DNAJC21	ORPHA:811
HP:0025032	Abnormality of digestive system physiology	79631	EFL1	ORPHA:811
HP:0025032	Abnormality of digestive system physiology	51119	SBDS	ORPHA:811
HP:0025032	Abnormality of digestive system physiology	6718	AKR1D1	ORPHA:79303
HP:0025032	Abnormality of digestive system physiology	65992	DDRGK1	OMIM:602557
HP:0025032	Abnormality of digestive system physiology	65992	DDRGK1	ORPHA:93352
HP:0025032	Abnormality of digestive system physiology	5339	PLEC	ORPHA:158684
HP:0025032	Abnormality of digestive system physiology	79827	CLMP	OMIM:615237
HP:0025032	Abnormality of digestive system physiology	3875	KRT18	OMIM:215600
HP:0025032	Abnormality of digestive system physiology	55112	DYNC2I1	ORPHA:93271
HP:0025032	Abnormality of digestive system physiology	57560	IFT80	ORPHA:93271
HP:0025032	Abnormality of digestive system physiology	57539	WDR35	ORPHA:93271
HP:0025032	Abnormality of digestive system physiology	79659	DYNC2H1	ORPHA:93271
HP:0025032	Abnormality of digestive system physiology	89891	DYNC2I2	ORPHA:93271
HP:0025032	Abnormality of digestive system physiology	2050	EPHB4	OMIM:617300
HP:0025032	Abnormality of digestive system physiology	341640	FREM2	OMIM:617666
HP:0025032	Abnormality of digestive system physiology	145873	MESP2	OMIM:277300
HP:0025032	Abnormality of digestive system physiology	10683	DLL3	OMIM:277300
HP:0025032	Abnormality of digestive system physiology	1353	COX11	OMIM:620275
HP:0025032	Abnormality of digestive system physiology	54808	DYM	OMIM:223800
HP:0025032	Abnormality of digestive system physiology	410	ARSA	ORPHA:309271
HP:0025032	Abnormality of digestive system physiology	410	ARSA	ORPHA:309263
HP:0025032	Abnormality of digestive system physiology	410	ARSA	ORPHA:309256
HP:0025032	Abnormality of digestive system physiology	5660	PSAP	ORPHA:309271
HP:0025032	Abnormality of digestive system physiology	5660	PSAP	ORPHA:309263
HP:0025032	Abnormality of digestive system physiology	5660	PSAP	ORPHA:309256
HP:0025032	Abnormality of digestive system physiology	55687	TRMU	OMIM:613070
HP:0025032	Abnormality of digestive system physiology	7019	TFAM	OMIM:617156
HP:0025032	Abnormality of digestive system physiology	3643	INSR	OMIM:246200
HP:0025032	Abnormality of digestive system physiology	3643	INSR	ORPHA:508
HP:0025032	Abnormality of digestive system physiology	26175	LYSET	OMIM:619345
HP:0025032	Abnormality of digestive system physiology	5277	PIGA	OMIM:300868
HP:0025032	Abnormality of digestive system physiology	79867	TCTN2	OMIM:613885
HP:0025032	Abnormality of digestive system physiology	1836	SLC26A2	OMIM:600972
HP:0025032	Abnormality of digestive system physiology	10526	IPO8	OMIM:619472
HP:0025032	Abnormality of digestive system physiology	79770	TXNDC15	OMIM:619879
HP:0025032	Abnormality of digestive system physiology	10653	SPINT2	OMIM:270420
HP:0025032	Abnormality of digestive system physiology	3594	IL12RB1	ORPHA:186
HP:0025032	Abnormality of digestive system physiology	23534	TNPO3	ORPHA:186
HP:0025032	Abnormality of digestive system physiology	6689	SPIB	ORPHA:186
HP:0025032	Abnormality of digestive system physiology	5450	POU2AF1	ORPHA:186
HP:0025032	Abnormality of digestive system physiology	9966	TNFSF15	ORPHA:186
HP:0025032	Abnormality of digestive system physiology	79258	MMEL1	ORPHA:186
HP:0025032	Abnormality of digestive system physiology	10398	MYL9	OMIM:619365
HP:0025032	Abnormality of digestive system physiology	50485	SMARCAL1	ORPHA:1830
HP:0025032	Abnormality of digestive system physiology	3110	MNX1	ORPHA:1552
HP:0025032	Abnormality of digestive system physiology	3110	MNX1	OMIM:176450
HP:0025032	Abnormality of digestive system physiology	1811	SLC26A3	OMIM:214700
HP:0025032	Abnormality of digestive system physiology	10551	AGR2	OMIM:620233
HP:0025032	Abnormality of digestive system physiology	79989	IFT56	OMIM:619534
HP:0025032	Abnormality of digestive system physiology	1280	COL2A1	ORPHA:85166
HP:0025032	Abnormality of digestive system physiology	5297	PI4KA	ORPHA:436252
HP:0025032	Abnormality of digestive system physiology	57217	TTC7A	ORPHA:436252
HP:0025032	Abnormality of digestive system physiology	9321	TRIP11	ORPHA:93299
HP:0025032	Abnormality of digestive system physiology	5836	PYGL	ORPHA:369
HP:0025032	Abnormality of digestive system physiology	205327	C2orf69	OMIM:619423
HP:0025032	Abnormality of digestive system physiology	4613	MYCN	ORPHA:635
HP:0025032	Abnormality of digestive system physiology	238	ALK	ORPHA:635
HP:0025032	Abnormality of digestive system physiology	389421	LIN28B	ORPHA:635
HP:0025032	Abnormality of digestive system physiology	4004	LMO1	ORPHA:635
HP:0025032	Abnormality of digestive system physiology	57531	HACE1	ORPHA:635
HP:0025032	Abnormality of digestive system physiology	8929	PHOX2B	ORPHA:635
HP:0025032	Abnormality of digestive system physiology	1308	COL17A1	ORPHA:79406
HP:0025032	Abnormality of digestive system physiology	5336	PLCG2	OMIM:614878
HP:0025032	Abnormality of digestive system physiology	3588	IL10RB	OMIM:612567
HP:0025032	Abnormality of digestive system physiology	151648	SGO1	OMIM:616201
HP:0025032	Abnormality of digestive system physiology	535	ATP6V0A1	OMIM:619971
HP:0025032	Abnormality of digestive system physiology	51608	GET4	OMIM:620200
HP:0025032	Abnormality of digestive system physiology	4312	MMP1	ORPHA:79408
HP:0025032	Abnormality of digestive system physiology	57589	RIC1	ORPHA:199306
HP:0025032	Abnormality of digestive system physiology	5818	NECTIN1	ORPHA:199306
HP:0025032	Abnormality of digestive system physiology	1739	DLG1	ORPHA:199306
HP:0025032	Abnormality of digestive system physiology	999	CDH1	ORPHA:199306
HP:0025032	Abnormality of digestive system physiology	3664	IRF6	ORPHA:199306
HP:0025032	Abnormality of digestive system physiology	1748	DLX4	ORPHA:199306
HP:0025032	Abnormality of digestive system physiology	4487	MSX1	ORPHA:199306
HP:0025032	Abnormality of digestive system physiology	652	BMP4	ORPHA:199306
HP:0025032	Abnormality of digestive system physiology	8626	TP63	ORPHA:199306
HP:0025032	Abnormality of digestive system physiology	22837	COBLL1	ORPHA:199306
HP:0025032	Abnormality of digestive system physiology	54848	ARHGEF38	ORPHA:199306
HP:0025032	Abnormality of digestive system physiology	9411	ARHGAP29	ORPHA:199306
HP:0025032	Abnormality of digestive system physiology	84701	COX4I2	OMIM:612714
HP:0025032	Abnormality of digestive system physiology	9244	CRLF1	ORPHA:930
HP:0025032	Abnormality of digestive system physiology	4842	NOS1	ORPHA:930
HP:0025032	Abnormality of digestive system physiology	3858	KRT10	ORPHA:312
HP:0025032	Abnormality of digestive system physiology	3848	KRT1	ORPHA:312
HP:0025032	Abnormality of digestive system physiology	10068	IL18BP	OMIM:618549
HP:0025032	Abnormality of digestive system physiology	9881	TRANK1	ORPHA:33543
HP:0025032	Abnormality of digestive system physiology	221496	LEMD2	OMIM:619322
HP:0025032	Abnormality of digestive system physiology	3708	ITPR1	OMIM:117360
HP:0025032	Abnormality of digestive system physiology	79971	WLS	OMIM:619648
HP:0025032	Abnormality of digestive system physiology	816	CAMK2B	OMIM:617799
HP:0025032	Abnormality of digestive system physiology	641	BLM	ORPHA:125
HP:0025032	Abnormality of digestive system physiology	613	BCR	ORPHA:521
HP:0025032	Abnormality of digestive system physiology	25	ABL1	ORPHA:521
HP:0025032	Abnormality of digestive system physiology	57190	SELENON	ORPHA:2020
HP:0025032	Abnormality of digestive system physiology	58	ACTA1	ORPHA:2020
HP:0025032	Abnormality of digestive system physiology	4633	MYL2	ORPHA:2020
HP:0025032	Abnormality of digestive system physiology	3679	ITGA7	ORPHA:2020
HP:0025032	Abnormality of digestive system physiology	7169	TPM2	ORPHA:2020
HP:0025032	Abnormality of digestive system physiology	9200	HACD1	ORPHA:2020
HP:0025032	Abnormality of digestive system physiology	7170	TPM3	ORPHA:2020
HP:0025032	Abnormality of digestive system physiology	51776	MAP3K20	ORPHA:2020
HP:0025032	Abnormality of digestive system physiology	2475	MTOR	ORPHA:457485
HP:0025032	Abnormality of digestive system physiology	5238	PGM3	ORPHA:443811
HP:0025032	Abnormality of digestive system physiology	6304	SATB1	OMIM:619229
HP:0025032	Abnormality of digestive system physiology	3938	LCT	OMIM:223000
HP:0025032	Abnormality of digestive system physiology	4175	MCM6	OMIM:223100
HP:0025032	Abnormality of digestive system physiology	57379	AICDA	OMIM:605258
HP:0025032	Abnormality of digestive system physiology	29071	C1GALT1C1	OMIM:301110
HP:0025032	Abnormality of digestive system physiology	4792	NFKBIA	OMIM:612132
HP:0025032	Abnormality of digestive system physiology	6891	TAP2	OMIM:620813
HP:0025032	Abnormality of digestive system physiology	50615	IL21R	OMIM:615207
HP:0025032	Abnormality of digestive system physiology	7535	ZAP70	ORPHA:911
HP:0025032	Abnormality of digestive system physiology	3718	JAK3	ORPHA:35078
HP:0025032	Abnormality of digestive system physiology	58484	NLRC4	OMIM:616050
HP:0025032	Abnormality of digestive system physiology	1956	EGFR	OMIM:616069
HP:0025032	Abnormality of digestive system physiology	51703	ACSL5	OMIM:620357
HP:0025032	Abnormality of digestive system physiology	4854	NOTCH3	ORPHA:2591
HP:0025032	Abnormality of digestive system physiology	5159	PDGFRB	ORPHA:2591
HP:0025032	Abnormality of digestive system physiology	2202	EFEMP1	OMIM:620780
HP:0025032	Abnormality of digestive system physiology	2131	EXT1	ORPHA:321
HP:0025032	Abnormality of digestive system physiology	6905	TBCE	ORPHA:2323
HP:0025032	Abnormality of digestive system physiology	4791	NFKB2	OMIM:615577
HP:0025032	Abnormality of digestive system physiology	1281	COL3A1	ORPHA:286
HP:0025032	Abnormality of digestive system physiology	7010	TEK	ORPHA:1059
HP:0025032	Abnormality of digestive system physiology	567	B2M	ORPHA:314652
HP:0025032	Abnormality of digestive system physiology	60561	RINT1	OMIM:618641
HP:0025032	Abnormality of digestive system physiology	51520	LARS1	OMIM:615438
HP:0025032	Abnormality of digestive system physiology	9451	EIF2AK3	ORPHA:1667
HP:0025032	Abnormality of digestive system physiology	64116	SLC39A8	ORPHA:468699
HP:0025032	Abnormality of digestive system physiology	343641	TGM6	OMIM:613908
HP:0025032	Abnormality of digestive system physiology	343641	TGM6	ORPHA:276193
HP:0025032	Abnormality of digestive system physiology	2583	B4GALNT1	ORPHA:101006
HP:0025032	Abnormality of digestive system physiology	9131	AIFM1	ORPHA:238329
HP:0025032	Abnormality of digestive system physiology	4524	MTHFR	ORPHA:395
HP:0025032	Abnormality of digestive system physiology	4621	MYH3	ORPHA:2053
HP:0025032	Abnormality of digestive system physiology	4621	MYH3	OMIM:193700
HP:0025032	Abnormality of digestive system physiology	199857	ALG14	OMIM:619036
HP:0025032	Abnormality of digestive system physiology	51399	TRAPPC4	OMIM:618741
HP:0025032	Abnormality of digestive system physiology	1024	CDK8	OMIM:618748
HP:0025032	Abnormality of digestive system physiology	145173	B3GLCT	ORPHA:709
HP:0025032	Abnormality of digestive system physiology	145173	B3GLCT	OMIM:261540
HP:0025032	Abnormality of digestive system physiology	22800	RRAS2	OMIM:618624
HP:0025032	Abnormality of digestive system physiology	22800	RRAS2	ORPHA:648
HP:0025032	Abnormality of digestive system physiology	2067	ERCC1	ORPHA:90322
HP:0025032	Abnormality of digestive system physiology	2067	ERCC1	ORPHA:1466
HP:0025032	Abnormality of digestive system physiology	7259	TSPYL1	OMIM:608800
HP:0025032	Abnormality of digestive system physiology	6341	SCO1	OMIM:619048
HP:0025032	Abnormality of digestive system physiology	1352	COX10	OMIM:619046
HP:0025032	Abnormality of digestive system physiology	25782	RAB3GAP2	OMIM:212720
HP:0025032	Abnormality of digestive system physiology	25782	RAB3GAP2	ORPHA:1387
HP:0025032	Abnormality of digestive system physiology	9723	SEMA3E	ORPHA:138
HP:0025032	Abnormality of digestive system physiology	9382	COG1	OMIM:611209
HP:0025032	Abnormality of digestive system physiology	63908	NAPB	OMIM:620033
HP:0025032	Abnormality of digestive system physiology	2263	FGFR2	ORPHA:87
HP:0025032	Abnormality of digestive system physiology	2263	FGFR2	OMIM:123790
HP:0025032	Abnormality of digestive system physiology	56992	KIF15	ORPHA:261323
HP:0025032	Abnormality of digestive system physiology	146862	UNC45B	OMIM:619178
HP:0025032	Abnormality of digestive system physiology	274	BIN1	OMIM:255200
HP:0025032	Abnormality of digestive system physiology	170825	GSX2	OMIM:618646
HP:0025032	Abnormality of digestive system physiology	157680	VPS13B	OMIM:216550
HP:0025032	Abnormality of digestive system physiology	157680	VPS13B	ORPHA:193
HP:0025032	Abnormality of digestive system physiology	7386	UQCRFS1	OMIM:618775
HP:0025032	Abnormality of digestive system physiology	88	ACTN2	OMIM:618654
HP:0025032	Abnormality of digestive system physiology	833	CARS1	OMIM:618891
HP:0025032	Abnormality of digestive system physiology	1641	DCX	ORPHA:2148
HP:0025032	Abnormality of digestive system physiology	51021	MRPS16	OMIM:610498
HP:0025032	Abnormality of digestive system physiology	5147	PDE6D	ORPHA:475
HP:0025032	Abnormality of digestive system physiology	5147	PDE6D	ORPHA:2754
HP:0025032	Abnormality of digestive system physiology	79600	TCTN1	ORPHA:475
HP:0025032	Abnormality of digestive system physiology	8481	OFD1	ORPHA:475
HP:0025032	Abnormality of digestive system physiology	8481	OFD1	OMIM:300804
HP:0025032	Abnormality of digestive system physiology	8481	OFD1	ORPHA:2754
HP:0025032	Abnormality of digestive system physiology	65250	CPLANE1	ORPHA:475
HP:0025032	Abnormality of digestive system physiology	65250	CPLANE1	ORPHA:2754
HP:0025032	Abnormality of digestive system physiology	91147	TMEM67	ORPHA:475
HP:0025032	Abnormality of digestive system physiology	91147	TMEM67	ORPHA:1454
HP:0025032	Abnormality of digestive system physiology	200894	ARL13B	ORPHA:475
HP:0025032	Abnormality of digestive system physiology	9731	CEP104	ORPHA:475
HP:0025032	Abnormality of digestive system physiology	219844	HYLS1	ORPHA:475
HP:0025032	Abnormality of digestive system physiology	23247	KATNIP	ORPHA:475
HP:0025032	Abnormality of digestive system physiology	219854	TMEM218	ORPHA:475
HP:0025032	Abnormality of digestive system physiology	80776	B9D2	ORPHA:475
HP:0025032	Abnormality of digestive system physiology	10464	PIBF1	ORPHA:475
HP:0025032	Abnormality of digestive system physiology	80210	ARMC9	ORPHA:475
HP:0025032	Abnormality of digestive system physiology	23116	TOGARAM1	ORPHA:475
HP:0025032	Abnormality of digestive system physiology	25776	CBY1	ORPHA:475
HP:0025032	Abnormality of digestive system physiology	27077	B9D1	ORPHA:475
HP:0025032	Abnormality of digestive system physiology	403	ARL3	ORPHA:475
HP:0025032	Abnormality of digestive system physiology	80173	IFT74	ORPHA:475
HP:0025032	Abnormality of digestive system physiology	26160	IFT172	ORPHA:474
HP:0025032	Abnormality of digestive system physiology	51626	DYNC2LI1	ORPHA:474
HP:0025032	Abnormality of digestive system physiology	9742	IFT140	ORPHA:474
HP:0025032	Abnormality of digestive system physiology	57728	WDR19	ORPHA:474
HP:0025032	Abnormality of digestive system physiology	79809	TTC21B	ORPHA:474
HP:0025032	Abnormality of digestive system physiology	80025	PANK2	OMIM:234200
HP:0025032	Abnormality of digestive system physiology	10907	TXNL4A	OMIM:608572
HP:0025032	Abnormality of digestive system physiology	10436	EMG1	ORPHA:1270
HP:0025032	Abnormality of digestive system physiology	2548	GAA	ORPHA:308552
HP:0025032	Abnormality of digestive system physiology	4849	CNOT3	OMIM:618672
HP:0025032	Abnormality of digestive system physiology	1654	DDX3X	ORPHA:3338
HP:0025032	Abnormality of digestive system physiology	1028	CDKN1C	ORPHA:397590
HP:0025032	Abnormality of digestive system physiology	5324	PLAG1	ORPHA:397590
HP:0025032	Abnormality of digestive system physiology	5324	PLAG1	OMIM:618907
HP:0025032	Abnormality of digestive system physiology	8091	HMGA2	ORPHA:397590
HP:0025032	Abnormality of digestive system physiology	8091	HMGA2	OMIM:618908
HP:0025032	Abnormality of digestive system physiology	200424	TET3	OMIM:618798
HP:0025032	Abnormality of digestive system physiology	644096	SDHAF1	ORPHA:3208
HP:0025032	Abnormality of digestive system physiology	22930	RAB3GAP1	ORPHA:1387
HP:0025032	Abnormality of digestive system physiology	84295	PHF6	ORPHA:127
HP:0025032	Abnormality of digestive system physiology	701	BUB1B	OMIM:257300
HP:0025032	Abnormality of digestive system physiology	23512	SUZ12	ORPHA:3447
HP:0025032	Abnormality of digestive system physiology	2146	EZH2	ORPHA:3447
HP:0025032	Abnormality of digestive system physiology	6567	SLC16A2	ORPHA:59
HP:0025032	Abnormality of digestive system physiology	6567	SLC16A2	OMIM:300523
HP:0025032	Abnormality of digestive system physiology	65125	WNK1	OMIM:201300
HP:0025032	Abnormality of digestive system physiology	54463	RETREG1	OMIM:201300
HP:0025032	Abnormality of digestive system physiology	547	KIF1A	OMIM:201300
HP:0025032	Abnormality of digestive system physiology	3329	HSPD1	OMIM:612233
HP:0025032	Abnormality of digestive system physiology	58497	PRUNE1	ORPHA:544469
HP:0025032	Abnormality of digestive system physiology	6134	RPL10	OMIM:300998
HP:0025032	Abnormality of digestive system physiology	1291	COL6A1	OMIM:254090
HP:0025032	Abnormality of digestive system physiology	51728	POLR3K	OMIM:619310
HP:0025032	Abnormality of digestive system physiology	10102	TSFM	OMIM:610505
HP:0025032	Abnormality of digestive system physiology	55593	OTUD5	OMIM:301056
HP:0025032	Abnormality of digestive system physiology	55869	HDAC8	OMIM:300882
HP:0025032	Abnormality of digestive system physiology	55869	HDAC8	ORPHA:199
HP:0025032	Abnormality of digestive system physiology	7314	UBB	ORPHA:101023
HP:0025032	Abnormality of digestive system physiology	57822	GRHL3	ORPHA:101023
HP:0025032	Abnormality of digestive system physiology	2218	FKTN	OMIM:236670
HP:0025032	Abnormality of digestive system physiology	5980	REV3L	ORPHA:570
HP:0025032	Abnormality of digestive system physiology	23129	PLXND1	ORPHA:570
HP:0025032	Abnormality of digestive system physiology	7084	TK2	ORPHA:254875
HP:0025032	Abnormality of digestive system physiology	2073	ERCC5	ORPHA:1466
HP:0025032	Abnormality of digestive system physiology	201163	FLCN	OMIM:610883
HP:0025032	Abnormality of digestive system physiology	128989	TANGO2	ORPHA:480864
HP:0025032	Abnormality of digestive system physiology	3265	HRAS	ORPHA:3071
HP:0025032	Abnormality of digestive system physiology	6045	RNF2	OMIM:619460
HP:0025032	Abnormality of digestive system physiology	22808	MRAS	OMIM:618499
HP:0025032	Abnormality of digestive system physiology	22808	MRAS	ORPHA:648
HP:0025032	Abnormality of digestive system physiology	84818	IL17RC	ORPHA:1334
HP:0025032	Abnormality of digestive system physiology	64581	CLEC7A	ORPHA:1334
HP:0025032	Abnormality of digestive system physiology	23765	IL17RA	ORPHA:1334
HP:0025032	Abnormality of digestive system physiology	10758	TRAF3IP2	ORPHA:1334
HP:0025032	Abnormality of digestive system physiology	112744	IL17F	ORPHA:1334
HP:0025032	Abnormality of digestive system physiology	128637	TBC1D20	OMIM:615663
HP:0025032	Abnormality of digestive system physiology	57545	CC2D2A	ORPHA:1454
HP:0025032	Abnormality of digestive system physiology	25939	SAMHD1	OMIM:612952
HP:0025032	Abnormality of digestive system physiology	84172	POLR1B	OMIM:618939
HP:0025032	Abnormality of digestive system physiology	84172	POLR1B	ORPHA:861
HP:0025032	Abnormality of digestive system physiology	23476	BRD4	ORPHA:199
HP:0025032	Abnormality of digestive system physiology	6878	TAF6	ORPHA:199
HP:0025032	Abnormality of digestive system physiology	6197	RPS6KA3	ORPHA:192
HP:0025032	Abnormality of digestive system physiology	51241	COX16	OMIM:619355
HP:0025032	Abnormality of digestive system physiology	4337	MOCS1	OMIM:252150
HP:0025032	Abnormality of digestive system physiology	3032	HADHB	ORPHA:746
HP:0025032	Abnormality of digestive system physiology	9533	POLR1C	ORPHA:861
HP:0025032	Abnormality of digestive system physiology	51082	POLR1D	ORPHA:861
HP:0025032	Abnormality of digestive system physiology	6949	TCOF1	ORPHA:861
HP:0025032	Abnormality of digestive system physiology	6452	SH3BP2	ORPHA:184
HP:0025032	Abnormality of digestive system physiology	23556	PIGN	ORPHA:280633
HP:0025032	Abnormality of digestive system physiology	90522	YIF1B	OMIM:619125
HP:0025032	Abnormality of digestive system physiology	90416	CCDC32	OMIM:619123
HP:0025032	Abnormality of digestive system physiology	1806	DPYD	ORPHA:1675
HP:0025032	Abnormality of digestive system physiology	1180	CLCN1	ORPHA:614
HP:0025032	Abnormality of digestive system physiology	8292	COLQ	OMIM:603034
HP:0025032	Abnormality of digestive system physiology	55252	ASXL2	OMIM:617190
HP:0025032	Abnormality of digestive system physiology	2193	FARSA	OMIM:619013
HP:0025032	Abnormality of digestive system physiology	51780	KDM3B	OMIM:618846
HP:0025032	Abnormality of digestive system physiology	2806	GOT2	OMIM:618721
HP:0025032	Abnormality of digestive system physiology	3295	HSD17B4	OMIM:261515
HP:0025032	Abnormality of digestive system physiology	8216	LZTR1	ORPHA:648
HP:0025032	Abnormality of digestive system physiology	6237	RRAS	ORPHA:648
HP:0025032	Abnormality of digestive system physiology	5894	RAF1	ORPHA:648
HP:0025032	Abnormality of digestive system physiology	200734	SPRED2	ORPHA:648
HP:0025032	Abnormality of digestive system physiology	6654	SOS1	ORPHA:648
HP:0025032	Abnormality of digestive system physiology	6655	SOS2	ORPHA:648
HP:0025032	Abnormality of digestive system physiology	5781	PTPN11	ORPHA:648
HP:0025032	Abnormality of digestive system physiology	5781	PTPN11	OMIM:163950
HP:0025032	Abnormality of digestive system physiology	5922	RASA2	ORPHA:648
HP:0025032	Abnormality of digestive system physiology	4848	CNOT2	OMIM:618608
HP:0025032	Abnormality of digestive system physiology	79583	TMEM231	ORPHA:2754
HP:0025032	Abnormality of digestive system physiology	10210	TOPORS	ORPHA:2754
HP:0025032	Abnormality of digestive system physiology	51259	TMEM216	ORPHA:2754
HP:0025032	Abnormality of digestive system physiology	317662	FAM149B1	ORPHA:2754
HP:0025032	Abnormality of digestive system physiology	374654	KIF7	ORPHA:2754
HP:0025032	Abnormality of digestive system physiology	9897	WASHC5	ORPHA:7
HP:0025032	Abnormality of digestive system physiology	28952	CCDC22	ORPHA:7
HP:0025032	Abnormality of digestive system physiology	57020	VPS35L	ORPHA:7
HP:0025032	Abnormality of digestive system physiology	56896	DPYSL5	ORPHA:7
HP:0025032	Abnormality of digestive system physiology	23040	MYT1L	ORPHA:647799
HP:0025032	Abnormality of digestive system physiology	3908	LAMA2	OMIM:607855
HP:0025032	Abnormality of digestive system physiology	29928	TIMM22	OMIM:618851
HP:0025032	Abnormality of digestive system physiology	8803	SUCLA2	OMIM:612073
HP:0025032	Abnormality of digestive system physiology	2036	EPB41L1	OMIM:614257
HP:0025032	Abnormality of digestive system physiology	4281	MID1	ORPHA:2745
HP:0025032	Abnormality of digestive system physiology	84148	KAT8	OMIM:618974
HP:0025032	Abnormality of digestive system physiology	57194	ATP10A	ORPHA:411515
HP:0025032	Abnormality of digestive system physiology	5621	PRNP	ORPHA:280397
HP:0025032	Abnormality of digestive system physiology	4221	MEN1	ORPHA:99879
HP:0025032	Abnormality of digestive system physiology	9247	GCM2	ORPHA:99879
HP:0025032	Abnormality of digestive system physiology	79577	CDC73	ORPHA:99879
HP:0025032	Abnormality of digestive system physiology	2778	GNAS	ORPHA:94089
HP:0025032	Abnormality of digestive system physiology	2778	GNAS	ORPHA:79443
HP:0025032	Abnormality of digestive system physiology	2778	GNAS	ORPHA:79444
HP:0025032	Abnormality of digestive system physiology	8675	STX16	ORPHA:94089
HP:0025032	Abnormality of digestive system physiology	1351	COX8A	OMIM:619059
HP:0025032	Abnormality of digestive system physiology	8218	CLTCL1	ORPHA:453510
HP:0025032	Abnormality of digestive system physiology	84706	GPT2	ORPHA:477673
HP:0025032	Abnormality of digestive system physiology	10466	COG5	ORPHA:263487
HP:0025032	Abnormality of digestive system physiology	26005	C2CD3	ORPHA:434179
HP:0025032	Abnormality of digestive system physiology	23345	SYNE1	ORPHA:319332
HP:0025032	Abnormality of digestive system physiology	128869	PIGU	OMIM:618590
HP:0025032	Abnormality of digestive system physiology	253959	RALGAPA1	OMIM:618797
HP:0025032	Abnormality of digestive system physiology	7358	UGDH	OMIM:618792
HP:0025032	Abnormality of digestive system physiology	1185	CLCN6	OMIM:619173
HP:0025032	Abnormality of digestive system physiology	84720	PIGO	ORPHA:247262
HP:0025032	Abnormality of digestive system physiology	93210	PGAP3	ORPHA:247262
HP:0025032	Abnormality of digestive system physiology	284098	PIGW	ORPHA:247262
HP:0025032	Abnormality of digestive system physiology	27315	PGAP2	ORPHA:247262
HP:0025032	Abnormality of digestive system physiology	9487	PIGL	ORPHA:247262
HP:0025032	Abnormality of digestive system physiology	819	CAMLG	OMIM:620201
HP:0025032	Abnormality of digestive system physiology	1145	CHRNE	OMIM:608931
HP:0025032	Abnormality of digestive system physiology	1145	CHRNE	OMIM:616324
HP:0025032	Abnormality of digestive system physiology	2673	GFPT1	OMIM:608931
HP:0025032	Abnormality of digestive system physiology	26235	FBXL4	OMIM:615471
HP:0025032	Abnormality of digestive system physiology	340533	NEXMIF	OMIM:300912
HP:0025032	Abnormality of digestive system physiology	1144	CHRND	OMIM:616322
HP:0025032	Abnormality of digestive system physiology	1144	CHRND	OMIM:616323
HP:0025032	Abnormality of digestive system physiology	51569	UFM1	OMIM:617899
HP:0025032	Abnormality of digestive system physiology	5913	RAPSN	OMIM:616326
HP:0025032	Abnormality of digestive system physiology	6659	SOX4	OMIM:618506
HP:0025032	Abnormality of digestive system physiology	6659	SOX4	ORPHA:1465
HP:0025032	Abnormality of digestive system physiology	10059	DNM1L	OMIM:614388
HP:0025032	Abnormality of digestive system physiology	10059	DNM1L	ORPHA:98673
HP:0025032	Abnormality of digestive system physiology	5927	KDM5A	OMIM:620820
HP:0025032	Abnormality of digestive system physiology	55209	SETD5	ORPHA:404440
HP:0025032	Abnormality of digestive system physiology	55209	SETD5	OMIM:615761
HP:0025032	Abnormality of digestive system physiology	80816	ASXL3	OMIM:615485
HP:0025032	Abnormality of digestive system physiology	283489	CHAMP1	OMIM:616579
HP:0025032	Abnormality of digestive system physiology	387787	LIPT2	OMIM:617668
HP:0025032	Abnormality of digestive system physiology	23322	RPGRIP1L	ORPHA:220497
HP:0025032	Abnormality of digestive system physiology	4867	NPHP1	ORPHA:220497
HP:0025032	Abnormality of digestive system physiology	65062	TMEM237	ORPHA:220497
HP:0025032	Abnormality of digestive system physiology	27245	AHDC1	ORPHA:412069
HP:0025032	Abnormality of digestive system physiology	1841	DTYMK	OMIM:619847
HP:0025032	Abnormality of digestive system physiology	54806	AHI1	ORPHA:220493
HP:0025032	Abnormality of digestive system physiology	56623	INPP5E	ORPHA:220493
HP:0025032	Abnormality of digestive system physiology	153241	CEP120	ORPHA:220493
HP:0025032	Abnormality of digestive system physiology	54903	MKS1	ORPHA:220493
HP:0025032	Abnormality of digestive system physiology	95681	CEP41	ORPHA:220493
HP:0025032	Abnormality of digestive system physiology	55904	KMT2E	OMIM:618512
HP:0025032	Abnormality of digestive system physiology	84197	POMK	OMIM:615249
HP:0025032	Abnormality of digestive system physiology	24142	NAA80	OMIM:620830
HP:0025032	Abnormality of digestive system physiology	51112	TRAPPC12	OMIM:617669
HP:0025032	Abnormality of digestive system physiology	103	ADAR	OMIM:615010
HP:0025032	Abnormality of digestive system physiology	7343	UBTF	OMIM:617672
HP:0025032	Abnormality of digestive system physiology	150094	SIK1	OMIM:616341
HP:0025032	Abnormality of digestive system physiology	150094	SIK1	ORPHA:1934
HP:0025032	Abnormality of digestive system physiology	3064	HTT	OMIM:617435
HP:0025032	Abnormality of digestive system physiology	7994	KAT6A	ORPHA:457193
HP:0025032	Abnormality of digestive system physiology	7994	KAT6A	OMIM:616268
HP:0025032	Abnormality of digestive system physiology	2770	GNAI1	OMIM:619854
HP:0025032	Abnormality of digestive system physiology	3767	KCNJ11	ORPHA:79644
HP:0025032	Abnormality of digestive system physiology	3767	KCNJ11	ORPHA:276580
HP:0025032	Abnormality of digestive system physiology	4330	MN1	OMIM:618774
HP:0025032	Abnormality of digestive system physiology	8789	FBP2	OMIM:619864
HP:0025032	Abnormality of digestive system physiology	64121	RRAGC	OMIM:620609
HP:0025032	Abnormality of digestive system physiology	23327	NEDD4L	OMIM:617201
HP:0025032	Abnormality of digestive system physiology	790955	UQCC3	OMIM:616111
HP:0025032	Abnormality of digestive system physiology	11193	WBP4	OMIM:620852
HP:0025032	Abnormality of digestive system physiology	51633	OTUD6B	OMIM:617452
HP:0025032	Abnormality of digestive system physiology	51633	OTUD6B	ORPHA:505237
HP:0025032	Abnormality of digestive system physiology	5593	PRKG2	OMIM:619638
HP:0025032	Abnormality of digestive system physiology	51692	CPSF3	OMIM:619876
HP:0025032	Abnormality of digestive system physiology	3098	HK1	OMIM:618547
HP:0025032	Abnormality of digestive system physiology	55210	ATAD3A	ORPHA:496790
HP:0025032	Abnormality of digestive system physiology	55210	ATAD3A	OMIM:617183
HP:0025032	Abnormality of digestive system physiology	8818	DPM2	OMIM:615042
HP:0025032	Abnormality of digestive system physiology	56947	MFF	ORPHA:485421
HP:0025032	Abnormality of digestive system physiology	2904	GRIN2B	OMIM:616139
HP:0025032	Abnormality of digestive system physiology	4285	MIPEP	OMIM:617228
HP:0025032	Abnormality of digestive system physiology	4208	MEF2C	ORPHA:228384
HP:0025032	Abnormality of digestive system physiology	4208	MEF2C	OMIM:613443
HP:0025032	Abnormality of digestive system physiology	4000	LMNA	ORPHA:157973
HP:0025032	Abnormality of digestive system physiology	4000	LMNA	OMIM:613205
HP:0025032	Abnormality of digestive system physiology	4000	LMNA	OMIM:619793
HP:0025032	Abnormality of digestive system physiology	6843	VAMP1	OMIM:618323
HP:0025032	Abnormality of digestive system physiology	6843	VAMP1	ORPHA:98914
HP:0025032	Abnormality of digestive system physiology	5917	RARS1	OMIM:616140
HP:0025032	Abnormality of digestive system physiology	197258	FCSK	OMIM:618324
HP:0025032	Abnormality of digestive system physiology	3798	KIF5A	OMIM:617235
HP:0025032	Abnormality of digestive system physiology	125988	MICOS13	OMIM:618329
HP:0025032	Abnormality of digestive system physiology	6572	SLC18A3	OMIM:617239
HP:0025032	Abnormality of digestive system physiology	6572	SLC18A3	ORPHA:98914
HP:0025032	Abnormality of digestive system physiology	25836	NIPBL	OMIM:122470
HP:0025032	Abnormality of digestive system physiology	23499	MACF1	OMIM:618325
HP:0025032	Abnormality of digestive system physiology	54148	MRPL39	OMIM:620646
HP:0025032	Abnormality of digestive system physiology	404672	GTF2H5	OMIM:616395
HP:0025032	Abnormality of digestive system physiology	25970	SH2B1	ORPHA:261197
HP:0025032	Abnormality of digestive system physiology	10533	ATG7	OMIM:619422
HP:0025032	Abnormality of digestive system physiology	56160	NSMCE3	OMIM:617241
HP:0025032	Abnormality of digestive system physiology	5881	RAC3	OMIM:618577
HP:0025032	Abnormality of digestive system physiology	5813	PURA	OMIM:616158
HP:0025032	Abnormality of digestive system physiology	5908	RAP1B	OMIM:620654
HP:0025032	Abnormality of digestive system physiology	389827	MYMK	OMIM:254940
HP:0025032	Abnormality of digestive system physiology	2639	GCDH	ORPHA:25
HP:0025032	Abnormality of digestive system physiology	1134	CHRNA1	OMIM:601462
HP:0025032	Abnormality of digestive system physiology	22827	PUF60	ORPHA:508498
HP:0025032	Abnormality of digestive system physiology	22827	PUF60	OMIM:615583
HP:0025032	Abnormality of digestive system physiology	9488	PIGB	OMIM:618580
HP:0025032	Abnormality of digestive system physiology	84894	LINGO1	OMIM:618103
HP:0025032	Abnormality of digestive system physiology	56203	LMOD3	OMIM:616165
HP:0025032	Abnormality of digestive system physiology	56203	LMOD3	ORPHA:171436
HP:0025032	Abnormality of digestive system physiology	10765	KDM5B	OMIM:618109
HP:0025032	Abnormality of digestive system physiology	2495	FTH1	OMIM:620669
HP:0025032	Abnormality of digestive system physiology	92335	STRADA	ORPHA:500533
HP:0025032	Abnormality of digestive system physiology	92335	STRADA	OMIM:611087
HP:0025032	Abnormality of digestive system physiology	6418	SET	OMIM:618106
HP:0025032	Abnormality of digestive system physiology	2653	GCSH	OMIM:620423
HP:0025032	Abnormality of digestive system physiology	9526	MPDU1	OMIM:609180
HP:0025032	Abnormality of digestive system physiology	9526	MPDU1	ORPHA:79323
HP:0025032	Abnormality of digestive system physiology	253738	EBF3	ORPHA:96148
HP:0025032	Abnormality of digestive system physiology	79813	EHMT1	ORPHA:96147
HP:0025032	Abnormality of digestive system physiology	79813	EHMT1	OMIM:610253
HP:0025032	Abnormality of digestive system physiology	4703	NEB	OMIM:256030
HP:0025032	Abnormality of digestive system physiology	4703	NEB	ORPHA:171436
HP:0025032	Abnormality of digestive system physiology	4703	NEB	ORPHA:171439
HP:0025032	Abnormality of digestive system physiology	2200	FBN1	ORPHA:284979
HP:0025032	Abnormality of digestive system physiology	3208	HPCA	ORPHA:99657
HP:0025032	Abnormality of digestive system physiology	7707	ZNF148	OMIM:617260
HP:0025032	Abnormality of digestive system physiology	29887	SNX10	OMIM:615085
HP:0025032	Abnormality of digestive system physiology	5515	PPP2CA	OMIM:618354
HP:0025032	Abnormality of digestive system physiology	55610	VPS50	OMIM:619685
HP:0025032	Abnormality of digestive system physiology	283989	TSEN54	OMIM:225753
HP:0025032	Abnormality of digestive system physiology	283989	TSEN54	ORPHA:2524
HP:0025032	Abnormality of digestive system physiology	23114	NFASC	OMIM:618356
HP:0025032	Abnormality of digestive system physiology	5649	RELN	ORPHA:89844
HP:0025032	Abnormality of digestive system physiology	10300	KATNB1	ORPHA:89844
HP:0025032	Abnormality of digestive system physiology	54820	NDE1	ORPHA:89844
HP:0025032	Abnormality of digestive system physiology	54820	NDE1	OMIM:614019
HP:0025032	Abnormality of digestive system physiology	23524	SRRM2	OMIM:620439
HP:0025032	Abnormality of digestive system physiology	25885	POLR1A	OMIM:620675
HP:0025032	Abnormality of digestive system physiology	3417	IDH1	ORPHA:99646
HP:0025032	Abnormality of digestive system physiology	29925	GMPPB	ORPHA:370968
HP:0025032	Abnormality of digestive system physiology	29925	GMPPB	OMIM:615350
HP:0025032	Abnormality of digestive system physiology	29925	GMPPB	OMIM:615351
HP:0025032	Abnormality of digestive system physiology	79147	FKRP	ORPHA:370968
HP:0025032	Abnormality of digestive system physiology	79147	FKRP	OMIM:606612
HP:0025032	Abnormality of digestive system physiology	79147	FKRP	OMIM:613153
HP:0025032	Abnormality of digestive system physiology	29954	POMT2	ORPHA:370968
HP:0025032	Abnormality of digestive system physiology	9215	LARGE1	ORPHA:370968
HP:0025032	Abnormality of digestive system physiology	427	ASAH1	ORPHA:333
HP:0025032	Abnormality of digestive system physiology	51132	RLIM	OMIM:300978
HP:0025032	Abnormality of digestive system physiology	10588	MTHFS	OMIM:618367
HP:0025032	Abnormality of digestive system physiology	6601	SMARCC2	OMIM:618362
HP:0025032	Abnormality of digestive system physiology	6601	SMARCC2	ORPHA:1465
HP:0025032	Abnormality of digestive system physiology	4052	LTBP1	OMIM:619451
HP:0025032	Abnormality of digestive system physiology	7468	NSD2	OMIM:619695
HP:0025032	Abnormality of digestive system physiology	7468	NSD2	ORPHA:280
HP:0025032	Abnormality of digestive system physiology	3376	IARS1	ORPHA:541423
HP:0025032	Abnormality of digestive system physiology	439	GET3	OMIM:620203
HP:0025032	Abnormality of digestive system physiology	3183	HNRNPC	OMIM:620688
HP:0025032	Abnormality of digestive system physiology	51102	MECR	OMIM:617282
HP:0025032	Abnormality of digestive system physiology	51102	MECR	ORPHA:508093
HP:0025032	Abnormality of digestive system physiology	8802	SUCLG1	ORPHA:17
HP:0025032	Abnormality of digestive system physiology	8802	SUCLG1	OMIM:245400
HP:0025032	Abnormality of digestive system physiology	3188	HNRNPH2	OMIM:300986
HP:0025032	Abnormality of digestive system physiology	84705	GTPBP3	OMIM:616198
HP:0025032	Abnormality of digestive system physiology	5332	PLCB4	OMIM:620458
HP:0025032	Abnormality of digestive system physiology	5332	PLCB4	ORPHA:137888
HP:0025032	Abnormality of digestive system physiology	5332	PLCB4	OMIM:614669
HP:0025032	Abnormality of digestive system physiology	594	BCKDHB	OMIM:620698
HP:0025032	Abnormality of digestive system physiology	79736	TEFM	OMIM:620451
HP:0025032	Abnormality of digestive system physiology	50801	KCNK4	OMIM:618381
HP:0025032	Abnormality of digestive system physiology	8943	AP3D1	OMIM:617050
HP:0025032	Abnormality of digestive system physiology	55975	KLHL7	OMIM:617055
HP:0025032	Abnormality of digestive system physiology	57187	THOC2	OMIM:300957
HP:0025032	Abnormality of digestive system physiology	9851	KIAA0753	OMIM:619479
HP:0025032	Abnormality of digestive system physiology	10846	PDE10A	ORPHA:494526
HP:0025032	Abnormality of digestive system physiology	10846	PDE10A	OMIM:616921
HP:0025032	Abnormality of digestive system physiology	4762	NEUROG1	OMIM:620469
HP:0025032	Abnormality of digestive system physiology	8452	CUL3	OMIM:619239
HP:0025032	Abnormality of digestive system physiology	6050	RNH1	OMIM:620461
HP:0025032	Abnormality of digestive system physiology	10283	CWC27	ORPHA:166035
HP:0025032	Abnormality of digestive system physiology	10283	CWC27	OMIM:250410
HP:0025032	Abnormality of digestive system physiology	3181	HNRNPA2B1	OMIM:620460
HP:0025032	Abnormality of digestive system physiology	388015	RTL1	ORPHA:96184
HP:0025032	Abnormality of digestive system physiology	388015	RTL1	ORPHA:96334
HP:0025032	Abnormality of digestive system physiology	388015	RTL1	ORPHA:254531
HP:0025032	Abnormality of digestive system physiology	388015	RTL1	ORPHA:254528
HP:0025032	Abnormality of digestive system physiology	8788	DLK1	ORPHA:96184
HP:0025032	Abnormality of digestive system physiology	8788	DLK1	ORPHA:96334
HP:0025032	Abnormality of digestive system physiology	8788	DLK1	ORPHA:254531
HP:0025032	Abnormality of digestive system physiology	8788	DLK1	ORPHA:254528
HP:0025032	Abnormality of digestive system physiology	55384	MEG3	ORPHA:96184
HP:0025032	Abnormality of digestive system physiology	55384	MEG3	ORPHA:96334
HP:0025032	Abnormality of digestive system physiology	55384	MEG3	ORPHA:254531
HP:0025032	Abnormality of digestive system physiology	55384	MEG3	ORPHA:254528
HP:0025032	Abnormality of digestive system physiology	11198	SUPT16H	OMIM:619480
HP:0025032	Abnormality of digestive system physiology	283446	MYO1H	OMIM:619482
HP:0025032	Abnormality of digestive system physiology	7204	TRIO	OMIM:617061
HP:0025032	Abnormality of digestive system physiology	9325	TRIP4	OMIM:617066
HP:0025032	Abnormality of digestive system physiology	9325	TRIP4	ORPHA:486815
HP:0025032	Abnormality of digestive system physiology	100147744	RNU7-1	OMIM:619487
HP:0025032	Abnormality of digestive system physiology	60558	GUF1	OMIM:617065
HP:0025032	Abnormality of digestive system physiology	374879	ZNF699	OMIM:619488
HP:0025032	Abnormality of digestive system physiology	8239	USP9X	OMIM:300968
HP:0025032	Abnormality of digestive system physiology	8239	USP9X	ORPHA:480880
HP:0025032	Abnormality of digestive system physiology	10660	LBX1	OMIM:619483
HP:0025032	Abnormality of digestive system physiology	84340	GFM2	OMIM:618397
HP:0025032	Abnormality of digestive system physiology	9373	PLAA	ORPHA:521426
HP:0025032	Abnormality of digestive system physiology	9373	PLAA	OMIM:617527
HP:0025032	Abnormality of digestive system physiology	57038	RARS2	OMIM:611523
HP:0025032	Abnormality of digestive system physiology	201595	STT3B	ORPHA:370924
HP:0025032	Abnormality of digestive system physiology	201595	STT3B	OMIM:615597
HP:0025032	Abnormality of digestive system physiology	6748	SSR4	ORPHA:370927
HP:0025032	Abnormality of digestive system physiology	6748	SSR4	OMIM:300934
HP:0025032	Abnormality of digestive system physiology	5805	PTS	OMIM:261640
HP:0025032	Abnormality of digestive system physiology	5557	PRIM1	OMIM:620005
HP:0025032	Abnormality of digestive system physiology	3030	HADHA	ORPHA:5
HP:0025032	Abnormality of digestive system physiology	3030	HADHA	OMIM:609015
HP:0025032	Abnormality of digestive system physiology	11342	RNF13	ORPHA:544503
HP:0025032	Abnormality of digestive system physiology	9898	UBAP2L	OMIM:620494
HP:0025032	Abnormality of digestive system physiology	5393	EXOSC9	OMIM:618065
HP:0025032	Abnormality of digestive system physiology	5393	EXOSC9	ORPHA:2254
HP:0025032	Abnormality of digestive system physiology	80308	FLAD1	OMIM:255100
HP:0025032	Abnormality of digestive system physiology	246243	RNASEH1	ORPHA:329336
HP:0025032	Abnormality of digestive system physiology	7355	SLC35A2	ORPHA:356961
HP:0025032	Abnormality of digestive system physiology	25821	MTO1	OMIM:614702
HP:0025032	Abnormality of digestive system physiology	781	CACNA2D1	OMIM:620149
HP:0025032	Abnormality of digestive system physiology	781	CACNA2D1	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	7138	TNNT1	OMIM:620389
HP:0025032	Abnormality of digestive system physiology	10667	FARS2	OMIM:614946
HP:0025032	Abnormality of digestive system physiology	51343	FZR1	OMIM:620145
HP:0025032	Abnormality of digestive system physiology	51343	FZR1	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	51506	UFC1	OMIM:618076
HP:0025032	Abnormality of digestive system physiology	57465	TBC1D24	ORPHA:352596
HP:0025032	Abnormality of digestive system physiology	57465	TBC1D24	ORPHA:79500
HP:0025032	Abnormality of digestive system physiology	57465	TBC1D24	OMIM:615338
HP:0025032	Abnormality of digestive system physiology	4552	MTRR	ORPHA:2169
HP:0025032	Abnormality of digestive system physiology	79947	DHDDS	OMIM:613861
HP:0025032	Abnormality of digestive system physiology	79947	DHDDS	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	55788	LMBRD1	OMIM:277380
HP:0025032	Abnormality of digestive system physiology	55788	LMBRD1	ORPHA:79284
HP:0025032	Abnormality of digestive system physiology	80055	PGAP1	OMIM:615802
HP:0025032	Abnormality of digestive system physiology	6662	SOX9	OMIM:114290
HP:0025032	Abnormality of digestive system physiology	29072	SETD2	OMIM:620157
HP:0025032	Abnormality of digestive system physiology	29072	SETD2	OMIM:620155
HP:0025032	Abnormality of digestive system physiology	771	CA12	OMIM:143860
HP:0025032	Abnormality of digestive system physiology	7175	TPR	OMIM:620393
HP:0025032	Abnormality of digestive system physiology	87178	PNPT1	ORPHA:319514
HP:0025032	Abnormality of digestive system physiology	25839	COG4	ORPHA:263501
HP:0025032	Abnormality of digestive system physiology	25839	COG4	OMIM:613489
HP:0025032	Abnormality of digestive system physiology	1738	DLD	ORPHA:2394
HP:0025032	Abnormality of digestive system physiology	1738	DLD	OMIM:246900
HP:0025032	Abnormality of digestive system physiology	1272	CNTN1	OMIM:612540
HP:0025032	Abnormality of digestive system physiology	23522	KAT6B	OMIM:606170
HP:0025032	Abnormality of digestive system physiology	23522	KAT6B	ORPHA:85201
HP:0025032	Abnormality of digestive system physiology	23522	KAT6B	OMIM:603736
HP:0025032	Abnormality of digestive system physiology	23522	KAT6B	ORPHA:3047
HP:0025032	Abnormality of digestive system physiology	93627	TBCK	OMIM:616900
HP:0025032	Abnormality of digestive system physiology	114034	TOE1	OMIM:614969
HP:0025032	Abnormality of digestive system physiology	64087	MCCC2	OMIM:210210
HP:0025032	Abnormality of digestive system physiology	54675	CRLS1	OMIM:620167
HP:0025032	Abnormality of digestive system physiology	51057	WDPCP	OMIM:217085
HP:0025032	Abnormality of digestive system physiology	501	ALDH7A1	ORPHA:3006
HP:0025032	Abnormality of digestive system physiology	11212	PLPBP	ORPHA:3006
HP:0025032	Abnormality of digestive system physiology	64919	BCL11B	OMIM:618092
HP:0025032	Abnormality of digestive system physiology	23036	ZNF292	OMIM:619188
HP:0025032	Abnormality of digestive system physiology	55636	CHD7	OMIM:214800
HP:0025032	Abnormality of digestive system physiology	1906	EDN1	ORPHA:137888
HP:0025032	Abnormality of digestive system physiology	2773	GNAI3	ORPHA:137888
HP:0025032	Abnormality of digestive system physiology	84947	SERAC1	OMIM:614739
HP:0025032	Abnormality of digestive system physiology	54496	PRMT7	ORPHA:464288
HP:0025032	Abnormality of digestive system physiology	54496	PRMT7	OMIM:617157
HP:0025032	Abnormality of digestive system physiology	6234	RPS28	OMIM:606164
HP:0025032	Abnormality of digestive system physiology	9653	HS2ST1	OMIM:619194
HP:0025032	Abnormality of digestive system physiology	1798	DPAGT1	ORPHA:86309
HP:0025032	Abnormality of digestive system physiology	26053	AUTS2	OMIM:615834
HP:0025032	Abnormality of digestive system physiology	79753	SNIP1	OMIM:614501
HP:0025032	Abnormality of digestive system physiology	3211	HOXB1	OMIM:614744
HP:0025032	Abnormality of digestive system physiology	25977	NECAP1	OMIM:615833
HP:0025032	Abnormality of digestive system physiology	25977	NECAP1	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	10056	FARSB	OMIM:613658
HP:0025032	Abnormality of digestive system physiology	54499	TMCO1	OMIM:213980
HP:0025032	Abnormality of digestive system physiology	11128	POLR3A	OMIM:264090
HP:0025032	Abnormality of digestive system physiology	11128	POLR3A	ORPHA:3455
HP:0025032	Abnormality of digestive system physiology	55719	SLF2	OMIM:620184
HP:0025032	Abnormality of digestive system physiology	2255	FGF10	OMIM:620193
HP:0025032	Abnormality of digestive system physiology	79759	ZNF668	OMIM:620194
HP:0025032	Abnormality of digestive system physiology	1737	DLAT	OMIM:245348
HP:0025032	Abnormality of digestive system physiology	57459	GATAD2B	ORPHA:363686
HP:0025032	Abnormality of digestive system physiology	440138	ALG11	OMIM:613661
HP:0025032	Abnormality of digestive system physiology	440138	ALG11	ORPHA:280071
HP:0025032	Abnormality of digestive system physiology	10472	ZBTB18	OMIM:612337
HP:0025032	Abnormality of digestive system physiology	9440	MED17	OMIM:613668
HP:0025032	Abnormality of digestive system physiology	2535	FZD2	OMIM:164745
HP:0025032	Abnormality of digestive system physiology	5048	PAFAH1B1	ORPHA:95232
HP:0025032	Abnormality of digestive system physiology	6314	ATXN7	ORPHA:94147
HP:0025032	Abnormality of digestive system physiology	22907	DHX30	OMIM:617804
HP:0025032	Abnormality of digestive system physiology	7351	UCP2	ORPHA:276556
HP:0025032	Abnormality of digestive system physiology	57724	EPG5	ORPHA:1493
HP:0025032	Abnormality of digestive system physiology	9230	RAB11B	OMIM:617807
HP:0025032	Abnormality of digestive system physiology	54704	PDP1	OMIM:608782
HP:0025032	Abnormality of digestive system physiology	55906	ZC4H2	OMIM:301041
HP:0025032	Abnormality of digestive system physiology	55906	ZC4H2	OMIM:314580
HP:0025032	Abnormality of digestive system physiology	1305	COL13A1	OMIM:616720
HP:0025032	Abnormality of digestive system physiology	1305	COL13A1	ORPHA:98914
HP:0025032	Abnormality of digestive system physiology	29123	ANKRD11	ORPHA:2332
HP:0025032	Abnormality of digestive system physiology	29123	ANKRD11	ORPHA:261250
HP:0025032	Abnormality of digestive system physiology	10229	COQ7	OMIM:616733
HP:0025032	Abnormality of digestive system physiology	54931	TRMT10C	OMIM:616974
HP:0025032	Abnormality of digestive system physiology	2782	GNB1	OMIM:616973
HP:0025032	Abnormality of digestive system physiology	2782	GNB1	ORPHA:488613
HP:0025032	Abnormality of digestive system physiology	4893	NRAS	OMIM:613224
HP:0025032	Abnormality of digestive system physiology	83479	DDX59	OMIM:174300
HP:0025032	Abnormality of digestive system physiology	3097	HIVEP2	OMIM:616977
HP:0025032	Abnormality of digestive system physiology	55033	FKBP14	OMIM:614557
HP:0025032	Abnormality of digestive system physiology	2561	GABRB2	OMIM:617829
HP:0025032	Abnormality of digestive system physiology	2561	GABRB2	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	6833	ABCC8	ORPHA:276575
HP:0025032	Abnormality of digestive system physiology	90161	HS6ST2	OMIM:301025
HP:0025032	Abnormality of digestive system physiology	6597	SMARCA4	ORPHA:1465
HP:0025032	Abnormality of digestive system physiology	6597	SMARCA4	OMIM:614609
HP:0025032	Abnormality of digestive system physiology	8289	ARID1A	ORPHA:1465
HP:0025032	Abnormality of digestive system physiology	8289	ARID1A	OMIM:614607
HP:0025032	Abnormality of digestive system physiology	6602	SMARCD1	ORPHA:1465
HP:0025032	Abnormality of digestive system physiology	57492	ARID1B	ORPHA:1465
HP:0025032	Abnormality of digestive system physiology	6664	SOX11	ORPHA:1465
HP:0025032	Abnormality of digestive system physiology	4915	NTRK2	OMIM:617830
HP:0025032	Abnormality of digestive system physiology	4915	NTRK2	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	80746	TSEN2	OMIM:612389
HP:0025032	Abnormality of digestive system physiology	80746	TSEN2	ORPHA:2524
HP:0025032	Abnormality of digestive system physiology	81620	CDT1	ORPHA:2554
HP:0025032	Abnormality of digestive system physiology	81620	CDT1	OMIM:613804
HP:0025032	Abnormality of digestive system physiology	5000	ORC4	ORPHA:2554
HP:0025032	Abnormality of digestive system physiology	5000	ORC4	OMIM:613800
HP:0025032	Abnormality of digestive system physiology	23594	ORC6	ORPHA:2554
HP:0025032	Abnormality of digestive system physiology	23594	ORC6	OMIM:613803
HP:0025032	Abnormality of digestive system physiology	8318	CDC45	ORPHA:2554
HP:0025032	Abnormality of digestive system physiology	990	CDC6	ORPHA:2554
HP:0025032	Abnormality of digestive system physiology	990	CDC6	OMIM:613805
HP:0025032	Abnormality of digestive system physiology	4998	ORC1	ORPHA:2554
HP:0025032	Abnormality of digestive system physiology	51053	GMNN	ORPHA:2554
HP:0025032	Abnormality of digestive system physiology	51053	GMNN	OMIM:616835
HP:0025032	Abnormality of digestive system physiology	54539	NDUFB11	ORPHA:2556
HP:0025032	Abnormality of digestive system physiology	54539	NDUFB11	ORPHA:2609
HP:0025032	Abnormality of digestive system physiology	1349	COX7B	ORPHA:2556
HP:0025032	Abnormality of digestive system physiology	3052	HCCS	ORPHA:2556
HP:0025032	Abnormality of digestive system physiology	5422	POLA1	OMIM:301030
HP:0025032	Abnormality of digestive system physiology	10943	MSL3	OMIM:301032
HP:0025032	Abnormality of digestive system physiology	5723	PSPH	ORPHA:79350
HP:0025032	Abnormality of digestive system physiology	26227	PHGDH	ORPHA:79351
HP:0025032	Abnormality of digestive system physiology	3868	KRT16	ORPHA:2309
HP:0025032	Abnormality of digestive system physiology	3872	KRT17	ORPHA:2309
HP:0025032	Abnormality of digestive system physiology	3853	KRT6A	ORPHA:2309
HP:0025032	Abnormality of digestive system physiology	3854	KRT6B	ORPHA:2309
HP:0025032	Abnormality of digestive system physiology	9343	EFTUD2	ORPHA:79113
HP:0025032	Abnormality of digestive system physiology	9997	SCO2	OMIM:604377
HP:0025032	Abnormality of digestive system physiology	10664	CTCF	ORPHA:363611
HP:0025032	Abnormality of digestive system physiology	10664	CTCF	OMIM:615502
HP:0025032	Abnormality of digestive system physiology	8270	LAGE3	OMIM:301006
HP:0025032	Abnormality of digestive system physiology	368	ABCC6	ORPHA:51608
HP:0025032	Abnormality of digestive system physiology	11222	MRPL3	OMIM:614582
HP:0025032	Abnormality of digestive system physiology	81689	ISCA1	OMIM:617613
HP:0025032	Abnormality of digestive system physiology	1213	CLTC	OMIM:617854
HP:0025032	Abnormality of digestive system physiology	1213	CLTC	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	9894	TELO2	ORPHA:488642
HP:0025032	Abnormality of digestive system physiology	4329	ALDH6A1	OMIM:614105
HP:0025032	Abnormality of digestive system physiology	80152	CENPT	OMIM:618702
HP:0025032	Abnormality of digestive system physiology	3425	IDUA	ORPHA:93473
HP:0025032	Abnormality of digestive system physiology	8936	WASF1	OMIM:618707
HP:0025032	Abnormality of digestive system physiology	1718	DHCR24	ORPHA:35107
HP:0025032	Abnormality of digestive system physiology	55617	TASP1	OMIM:618950
HP:0025032	Abnormality of digestive system physiology	116461	TSEN15	ORPHA:2524
HP:0025032	Abnormality of digestive system physiology	79042	TSEN34	ORPHA:2524
HP:0025032	Abnormality of digestive system physiology	51091	SEPSECS	ORPHA:2524
HP:0025032	Abnormality of digestive system physiology	2893	GRIA4	OMIM:617864
HP:0025032	Abnormality of digestive system physiology	60482	SLC5A7	ORPHA:98914
HP:0025032	Abnormality of digestive system physiology	60482	SLC5A7	OMIM:617143
HP:0025032	Abnormality of digestive system physiology	4649	MYO9A	ORPHA:98914
HP:0025032	Abnormality of digestive system physiology	4649	MYO9A	OMIM:618198
HP:0025032	Abnormality of digestive system physiology	1103	CHAT	ORPHA:98914
HP:0025032	Abnormality of digestive system physiology	6576	SLC25A1	ORPHA:98914
HP:0025032	Abnormality of digestive system physiology	6576	SLC25A1	OMIM:615182
HP:0025032	Abnormality of digestive system physiology	375790	AGRN	ORPHA:98914
HP:0025032	Abnormality of digestive system physiology	127833	SYT2	ORPHA:98914
HP:0025032	Abnormality of digestive system physiology	6616	SNAP25	ORPHA:98914
HP:0025032	Abnormality of digestive system physiology	4038	LRP4	OMIM:616304
HP:0025032	Abnormality of digestive system physiology	10274	STAG1	OMIM:617635
HP:0025032	Abnormality of digestive system physiology	10274	STAG1	ORPHA:502434
HP:0025032	Abnormality of digestive system physiology	5879	RAC1	ORPHA:500159
HP:0025032	Abnormality of digestive system physiology	6261	RYR1	ORPHA:98905
HP:0025032	Abnormality of digestive system physiology	6261	RYR1	ORPHA:424107
HP:0025032	Abnormality of digestive system physiology	6261	RYR1	OMIM:117000
HP:0025032	Abnormality of digestive system physiology	26123	TCTN3	ORPHA:2753
HP:0025032	Abnormality of digestive system physiology	71	ACTG1	ORPHA:2995
HP:0025032	Abnormality of digestive system physiology	60	ACTB	ORPHA:2995
HP:0025032	Abnormality of digestive system physiology	5087	PBX1	OMIM:617641
HP:0025032	Abnormality of digestive system physiology	5087	PBX1	ORPHA:97362
HP:0025032	Abnormality of digestive system physiology	1140	CHRNB1	OMIM:616314
HP:0025032	Abnormality of digestive system physiology	3852	KRT5	ORPHA:79396
HP:0025032	Abnormality of digestive system physiology	3861	KRT14	ORPHA:79396
HP:0025032	Abnormality of digestive system physiology	246329	STAC3	OMIM:255995
HP:0025032	Abnormality of digestive system physiology	246329	STAC3	ORPHA:168572
HP:0025032	Abnormality of digestive system physiology	8036	SHOC2	OMIM:607721
HP:0025032	Abnormality of digestive system physiology	25915	NDUFAF3	ORPHA:2609
HP:0025032	Abnormality of digestive system physiology	25915	NDUFAF3	OMIM:618240
HP:0025032	Abnormality of digestive system physiology	51103	NDUFAF1	ORPHA:2609
HP:0025032	Abnormality of digestive system physiology	91942	NDUFAF2	ORPHA:2609
HP:0025032	Abnormality of digestive system physiology	91942	NDUFAF2	OMIM:618233
HP:0025032	Abnormality of digestive system physiology	51300	TIMMDC1	ORPHA:2609
HP:0025032	Abnormality of digestive system physiology	4716	NDUFB10	ORPHA:2609
HP:0025032	Abnormality of digestive system physiology	4723	NDUFV1	ORPHA:2609
HP:0025032	Abnormality of digestive system physiology	55572	FOXRED1	ORPHA:2609
HP:0025032	Abnormality of digestive system physiology	55572	FOXRED1	OMIM:618241
HP:0025032	Abnormality of digestive system physiology	284184	NDUFAF8	ORPHA:2609
HP:0025032	Abnormality of digestive system physiology	55863	TMEM126B	ORPHA:2609
HP:0025032	Abnormality of digestive system physiology	4537	MT-ND3	ORPHA:2609
HP:0025032	Abnormality of digestive system physiology	4729	NDUFV2	ORPHA:2609
HP:0025032	Abnormality of digestive system physiology	4729	NDUFV2	OMIM:618229
HP:0025032	Abnormality of digestive system physiology	4694	NDUFA1	ORPHA:2609
HP:0025032	Abnormality of digestive system physiology	4720	NDUFS2	ORPHA:2609
HP:0025032	Abnormality of digestive system physiology	4724	NDUFS4	ORPHA:2609
HP:0025032	Abnormality of digestive system physiology	4726	NDUFS6	ORPHA:2609
HP:0025032	Abnormality of digestive system physiology	4726	NDUFS6	OMIM:618232
HP:0025032	Abnormality of digestive system physiology	4728	NDUFS8	ORPHA:2609
HP:0025032	Abnormality of digestive system physiology	4728	NDUFS8	OMIM:618222
HP:0025032	Abnormality of digestive system physiology	4722	NDUFS3	ORPHA:2609
HP:0025032	Abnormality of digestive system physiology	79133	NDUFAF5	ORPHA:2609
HP:0025032	Abnormality of digestive system physiology	79133	NDUFAF5	OMIM:618238
HP:0025032	Abnormality of digestive system physiology	126328	NDUFA11	ORPHA:2609
HP:0025032	Abnormality of digestive system physiology	4709	NDUFB3	ORPHA:2609
HP:0025032	Abnormality of digestive system physiology	4709	NDUFB3	OMIM:618246
HP:0025032	Abnormality of digestive system physiology	80224	NUBPL	ORPHA:2609
HP:0025032	Abnormality of digestive system physiology	29078	NDUFAF4	ORPHA:2609
HP:0025032	Abnormality of digestive system physiology	374291	NDUFS7	ORPHA:2609
HP:0025032	Abnormality of digestive system physiology	374291	NDUFS7	OMIM:618224
HP:0025032	Abnormality of digestive system physiology	4700	NDUFA6	ORPHA:2609
HP:0025032	Abnormality of digestive system physiology	4700	NDUFA6	OMIM:618253
HP:0025032	Abnormality of digestive system physiology	4536	MT-ND2	ORPHA:2609
HP:0025032	Abnormality of digestive system physiology	4719	NDUFS1	ORPHA:2609
HP:0025032	Abnormality of digestive system physiology	4715	NDUFB9	ORPHA:2609
HP:0025032	Abnormality of digestive system physiology	8367	H4C5	OMIM:619950
HP:0025032	Abnormality of digestive system physiology	104	ADARB1	OMIM:618862
HP:0025032	Abnormality of digestive system physiology	8294	H4C9	OMIM:619951
HP:0025032	Abnormality of digestive system physiology	8106	PABPN1	ORPHA:270
HP:0025032	Abnormality of digestive system physiology	57128	LYRM4	OMIM:615595
HP:0025032	Abnormality of digestive system physiology	3703	STT3A	OMIM:615596
HP:0025032	Abnormality of digestive system physiology	3703	STT3A	ORPHA:370921
HP:0025032	Abnormality of digestive system physiology	8425	LTBP4	OMIM:613177
HP:0025032	Abnormality of digestive system physiology	6016	RIT1	OMIM:615355
HP:0025032	Abnormality of digestive system physiology	10054	UBA2	OMIM:619959
HP:0025032	Abnormality of digestive system physiology	51126	NAA20	OMIM:619717
HP:0025032	Abnormality of digestive system physiology	60684	TRAPPC11	OMIM:615356
HP:0025032	Abnormality of digestive system physiology	1355	COX15	OMIM:615119
HP:0025032	Abnormality of digestive system physiology	3008	H1-4	OMIM:617537
HP:0025032	Abnormality of digestive system physiology	84942	WDR73	OMIM:251300
HP:0025032	Abnormality of digestive system physiology	79848	CSPP1	ORPHA:397715
HP:0025032	Abnormality of digestive system physiology	9786	KIAA0586	ORPHA:397715
HP:0025032	Abnormality of digestive system physiology	51111	KMT5B	OMIM:617788
HP:0025032	Abnormality of digestive system physiology	80155	NAA15	OMIM:617787
HP:0025032	Abnormality of digestive system physiology	6660	SOX5	ORPHA:313892
HP:0025032	Abnormality of digestive system physiology	10584	COLEC10	OMIM:248340
HP:0025032	Abnormality of digestive system physiology	284058	KANSL1	ORPHA:363958
HP:0025032	Abnormality of digestive system physiology	284058	KANSL1	ORPHA:363965
HP:0025032	Abnormality of digestive system physiology	55870	ASH1L	OMIM:617796
HP:0025032	Abnormality of digestive system physiology	91869	RFT1	ORPHA:244310
HP:0025032	Abnormality of digestive system physiology	91869	RFT1	OMIM:612015
HP:0025032	Abnormality of digestive system physiology	9692	PRORP	OMIM:619737
HP:0025032	Abnormality of digestive system physiology	7528	YY1	OMIM:617557
HP:0025032	Abnormality of digestive system physiology	56172	ANKH	OMIM:123000
HP:0025032	Abnormality of digestive system physiology	9581	PREPL	OMIM:616224
HP:0025032	Abnormality of digestive system physiology	9326	ZNHIT3	ORPHA:2836
HP:0025032	Abnormality of digestive system physiology	1183	CLCN4	ORPHA:485350
HP:0025032	Abnormality of digestive system physiology	8560	DEGS1	OMIM:618404
HP:0025032	Abnormality of digestive system physiology	10815	CPLX1	ORPHA:280
HP:0025032	Abnormality of digestive system physiology	10815	CPLX1	OMIM:617976
HP:0025032	Abnormality of digestive system physiology	54872	PIGG	ORPHA:280
HP:0025032	Abnormality of digestive system physiology	54872	PIGG	ORPHA:488635
HP:0025032	Abnormality of digestive system physiology	7469	NELFA	ORPHA:280
HP:0025032	Abnormality of digestive system physiology	1487	CTBP1	ORPHA:280
HP:0025032	Abnormality of digestive system physiology	1487	CTBP1	OMIM:617915
HP:0025032	Abnormality of digestive system physiology	3954	LETM1	ORPHA:280
HP:0025032	Abnormality of digestive system physiology	1656	DDX6	OMIM:618653
HP:0025032	Abnormality of digestive system physiology	2783	GNB2	OMIM:619503
HP:0025032	Abnormality of digestive system physiology	4632	MYL1	OMIM:618414
HP:0025032	Abnormality of digestive system physiology	26057	ANKRD17	OMIM:619504
HP:0025032	Abnormality of digestive system physiology	79731	NARS2	OMIM:616239
HP:0025032	Abnormality of digestive system physiology	3737	KCNA2	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	8120	AP3B2	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	523	ATP6V1A	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	523	ATP6V1A	ORPHA:357074
HP:0025032	Abnormality of digestive system physiology	10991	SLC38A3	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	3747	KCNC2	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	3747	KCNC2	OMIM:619913
HP:0025032	Abnormality of digestive system physiology	1917	EEF1A2	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	23219	FBXO28	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	8831	SYNGAP1	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	2558	GABRA5	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	2906	GRIN2D	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	2906	GRIN2D	OMIM:617162
HP:0025032	Abnormality of digestive system physiology	116150	NUS1	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	23334	SZT2	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	348980	HCN1	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	23241	PACS2	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	16	AARS1	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	6334	SCN8A	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	2555	GABRA2	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	55152	DALRD3	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	26999	CYFIP2	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	25973	PARS2	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	23097	CDK19	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	2257	FGF12	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	2257	FGF12	OMIM:617166
HP:0025032	Abnormality of digestive system physiology	5530	PPP3CA	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	5530	PPP3CA	OMIM:617711
HP:0025032	Abnormality of digestive system physiology	22906	TRAK1	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	2566	GABRG2	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	7532	YWHAG	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	79876	UBA5	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	79876	UBA5	OMIM:617132
HP:0025032	Abnormality of digestive system physiology	6328	SCN3A	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	10659	CELF2	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	774	CACNA1B	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	774	CACNA1B	OMIM:618497
HP:0025032	Abnormality of digestive system physiology	51412	ACTL6B	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	6506	SLC1A2	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	6506	SLC1A2	OMIM:617105
HP:0025032	Abnormality of digestive system physiology	3745	KCNB1	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	284111	SLC13A5	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	22866	CNKSR2	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	6323	SCN1A	ORPHA:442835
HP:0025032	Abnormality of digestive system physiology	55361	PI4K2A	OMIM:620732
HP:0025032	Abnormality of digestive system physiology	8642	DCHS1	OMIM:601390
HP:0025032	Abnormality of digestive system physiology	1182	CLCN3	OMIM:619512
HP:0025032	Abnormality of digestive system physiology	1182	CLCN3	OMIM:619517
HP:0025032	Abnormality of digestive system physiology	7862	BRPF1	OMIM:617333
HP:0025032	Abnormality of digestive system physiology	3481	IGF2	OMIM:616489
HP:0025032	Abnormality of digestive system physiology	9681	DEPDC5	OMIM:620504
HP:0025032	Abnormality of digestive system physiology	1660	DHX9	OMIM:620988
HP:0025032	Abnormality of digestive system physiology	8021	NUP214	OMIM:618426
HP:0025032	Abnormality of digestive system physiology	2643	GCH1	OMIM:233910
HP:0025032	Abnormality of digestive system physiology	8364	H4C3	OMIM:619758
HP:0025032	Abnormality of digestive system physiology	415	ARSL	ORPHA:79345
HP:0025032	Abnormality of digestive system physiology	145258	GSC	OMIM:602471
HP:0025032	Abnormality of digestive system physiology	7750	ZMYM2	OMIM:619522
HP:0025032	Abnormality of digestive system physiology	57466	SCAF4	OMIM:620511
HP:0025032	Abnormality of digestive system physiology	51341	ZBTB7A	OMIM:619769
HP:0025032	Abnormality of digestive system physiology	51163	DBR1	OMIM:620510
HP:0025032	Abnormality of digestive system physiology	4626	MYH8	OMIM:158300
HP:0025032	Abnormality of digestive system physiology	55120	FANCL	OMIM:614083
HP:0025032	Abnormality of digestive system physiology	10463	SLC30A9	OMIM:617595
HP:0025032	Abnormality of digestive system physiology	51227	PIGP	OMIM:617599
HP:0025032	Abnormality of digestive system physiology	51227	PIGP	ORPHA:1934
HP:0025032	Abnormality of digestive system physiology	10516	FBLN5	ORPHA:90348
HP:0025032	Abnormality of digestive system physiology	5832	ALDH18A1	ORPHA:90348
HP:0025032	Abnormality of digestive system physiology	5832	ALDH18A1	OMIM:616603
HP:0025032	Abnormality of digestive system physiology	3785	KCNQ2	ORPHA:439218
HP:0025032	Abnormality of digestive system physiology	1107	CHD3	OMIM:618205
HP:0025032	Abnormality of digestive system physiology	85459	CEP295	OMIM:620767
HP:0025032	Abnormality of digestive system physiology	29929	ALG6	ORPHA:79320
HP:0025032	Abnormality of digestive system physiology	79087	ALG12	ORPHA:79324
HP:0025032	Abnormality of digestive system physiology	79087	ALG12	OMIM:607143
HP:0025032	Abnormality of digestive system physiology	9896	FIG4	OMIM:216340
HP:0025032	Abnormality of digestive system physiology	27247	NFU1	OMIM:605711
HP:0025032	Abnormality of digestive system physiology	57505	AARS2	OMIM:614096
HP:0025032	Abnormality of digestive system physiology	8295	TRRAP	OMIM:618454
HP:0025032	Abnormality of digestive system physiology	6927	HNF1A	ORPHA:324575
HP:0025032	Abnormality of digestive system physiology	1892	ECHS1	OMIM:616277
HP:0025032	Abnormality of digestive system physiology	51117	COQ4	OMIM:616276
HP:0025032	Abnormality of digestive system physiology	133686	NADK2	OMIM:616034
HP:0025032	Abnormality of digestive system physiology	3658	IREB2	OMIM:618451
HP:0025032	Abnormality of digestive system physiology	5587	PRKD1	OMIM:617364
HP:0025032	Abnormality of digestive system physiology	6857	SYT1	OMIM:618218
HP:0025032	Abnormality of digestive system physiology	6857	SYT1	ORPHA:522077
HP:0025032	Abnormality of digestive system physiology	78987	CRELD1	OMIM:620771
HP:0025032	Abnormality of digestive system physiology	3736	KCNA1	ORPHA:1934
HP:0025032	Abnormality of digestive system physiology	9091	PIGQ	ORPHA:1934
HP:0025032	Abnormality of digestive system physiology	140679	SLC32A1	ORPHA:1934
HP:0025032	Abnormality of digestive system physiology	2775	GNAO1	ORPHA:1934
HP:0025032	Abnormality of digestive system physiology	81603	TRIM8	ORPHA:1934
HP:0025032	Abnormality of digestive system physiology	79751	SLC25A22	ORPHA:1934
HP:0025032	Abnormality of digestive system physiology	23312	DMXL2	ORPHA:1934
HP:0025032	Abnormality of digestive system physiology	2917	GRM7	ORPHA:1934
HP:0025032	Abnormality of digestive system physiology	11284	PNKP	ORPHA:1934
HP:0025032	Abnormality of digestive system physiology	6326	SCN2A	ORPHA:1934
HP:0025032	Abnormality of digestive system physiology	4761	NEUROD2	ORPHA:1934
HP:0025032	Abnormality of digestive system physiology	6492	SIM1	ORPHA:369873
HP:0025032	Abnormality of digestive system physiology	51422	PRKAG2	OMIM:261740
HP:0025032	Abnormality of digestive system physiology	9759	HDAC4	OMIM:619797
HP:0025032	Abnormality of digestive system physiology	9759	HDAC4	OMIM:600430
HP:0025032	Abnormality of digestive system physiology	30000	TNPO2	OMIM:619556
HP:0025032	Abnormality of digestive system physiology	54892	NCAPG2	OMIM:618460
HP:0025032	Abnormality of digestive system physiology	112	ADCY6	OMIM:616287
HP:0025032	Abnormality of digestive system physiology	85476	GFM1	OMIM:609060
HP:0025032	Abnormality of digestive system physiology	11267	SNF8	OMIM:620783
HP:0025032	Abnormality of digestive system physiology	2581	GALC	ORPHA:206443
HP:0025032	Abnormality of digestive system physiology	2581	GALC	ORPHA:206436
HP:0025032	Abnormality of digestive system physiology	26275	HIBCH	ORPHA:88639
HP:0025032	Abnormality of digestive system physiology	26275	HIBCH	OMIM:250620
HP:0025032	Abnormality of digestive system physiology	4695	NDUFA2	OMIM:618235
HP:0025032	Abnormality of digestive system physiology	79868	ALG13	OMIM:300884
HP:0025032	Abnormality of digestive system physiology	29998	BICRA	OMIM:619325
HP:0025032	Abnormality of digestive system physiology	23314	SATB2	ORPHA:251019
HP:0025032	Abnormality of digestive system physiology	29968	PSAT1	OMIM:610992
HP:0025032	Abnormality of digestive system physiology	6329	SCN4A	OMIM:168300
HP:0025032	Abnormality of digestive system physiology	6329	SCN4A	ORPHA:684
HP:0025032	Abnormality of digestive system physiology	157922	CAMSAP1	OMIM:620316
HP:0025032	Abnormality of digestive system physiology	443	ASPA	ORPHA:314911
HP:0025032	Abnormality of digestive system physiology	9126	SMC3	OMIM:610759
HP:0025032	Abnormality of digestive system physiology	4976	OPA1	ORPHA:98673
HP:0025032	Abnormality of digestive system physiology	57551	TAOK1	OMIM:619575
HP:0025032	Abnormality of digestive system physiology	56915	EXOSC5	OMIM:619576
HP:0025032	Abnormality of digestive system physiology	2530	FUT8	OMIM:618005
HP:0025032	Abnormality of digestive system physiology	112939	NACC1	OMIM:617393
HP:0025032	Abnormality of digestive system physiology	50619	DEF6	OMIM:619573
HP:0025032	Abnormality of digestive system physiology	7965	AIMP2	OMIM:618006
HP:0025032	Abnormality of digestive system physiology	29920	PYCR2	ORPHA:481152
HP:0025032	Abnormality of digestive system physiology	4141	MARS1	OMIM:620323
HP:0025032	Abnormality of digestive system physiology	3913	LAMB2	OMIM:609049
HP:0025032	Abnormality of digestive system physiology	372	ARCN1	OMIM:617164
HP:0025032	Abnormality of digestive system physiology	3977	LIFR	OMIM:601559
HP:0025032	Abnormality of digestive system physiology	51305	KCNK9	ORPHA:166108
HP:0025032	Abnormality of digestive system physiology	91039	DPP9	OMIM:620331
HP:0025032	Abnormality of digestive system physiology	60386	SLC25A19	ORPHA:99742
HP:0025032	Abnormality of digestive system physiology	11340	EXOSC8	OMIM:616081
HP:0025032	Abnormality of digestive system physiology	11340	EXOSC8	ORPHA:2254
HP:0025032	Abnormality of digestive system physiology	3975	LHX1	ORPHA:261265
HP:0025032	Abnormality of digestive system physiology	6928	HNF1B	ORPHA:261265
HP:0025032	Abnormality of digestive system physiology	57003	CCDC47	OMIM:618268
HP:0025032	Abnormality of digestive system physiology	35	ACADS	OMIM:201470
HP:0025032	Abnormality of digestive system physiology	35	ACADS	ORPHA:26792
HP:0025032	Abnormality of digestive system physiology	526	ATP6V1B2	ORPHA:79500
HP:0025032	Abnormality of digestive system physiology	6566	SLC16A1	OMIM:616095
HP:0025032	Abnormality of digestive system physiology	23287	AGTPBP1	OMIM:618276
HP:0025032	Abnormality of digestive system physiology	23287	AGTPBP1	ORPHA:2254
HP:0025032	Abnormality of digestive system physiology	23529	CLCF1	OMIM:610313
HP:0025032	Abnormality of digestive system physiology	23529	CLCF1	ORPHA:1545
HP:0025032	Abnormality of digestive system physiology	498	ATP5F1A	OMIM:620358
HP:0025032	Abnormality of digestive system physiology	118924	FRA10AC1	OMIM:620113
HP:0025032	Abnormality of digestive system physiology	8911	CACNA1I	OMIM:620114
HP:0025032	Abnormality of digestive system physiology	2733	GLE1	OMIM:611890
HP:0025032	Abnormality of digestive system physiology	1583	CYP11A1	ORPHA:168558
HP:0025032	Abnormality of digestive system physiology	1583	CYP11A1	ORPHA:289548
HP:0025032	Abnormality of digestive system physiology	55005	RMND1	OMIM:614922
HP:0025032	Abnormality of digestive system physiology	25913	POT1	OMIM:620368
HP:0025032	Abnormality of digestive system physiology	10295	BCKDK	OMIM:614923
HP:0025032	Abnormality of digestive system physiology	124454	EARS2	OMIM:614924
HP:0025032	Abnormality of digestive system physiology	1719	DHFR	OMIM:613839
HP:0025032	Abnormality of digestive system physiology	23299	BICD2	OMIM:618291
HP:0025032	Abnormality of digestive system physiology	4914	NTRK1	ORPHA:642
HP:0025032	Abnormality of digestive system physiology	129285	PPP1R21	OMIM:619383
HP:0025032	Abnormality of digestive system physiology	27161	AGO2	OMIM:619149
HP:0025032	Abnormality of digestive system physiology	221927	BRAT1	OMIM:618056
HP:0025032	Abnormality of digestive system physiology	221927	BRAT1	OMIM:614498
HP:0025032	Abnormality of digestive system physiology	10535	RNASEH2A	OMIM:610333
HP:0025032	Abnormality of digestive system physiology	54938	SARS2	OMIM:613845
HP:0025032	Abnormality of digestive system physiology	90952	ESAM	OMIM:620371
HP:0025032	Abnormality of digestive system physiology	83483	PLVAP	OMIM:618183
HP:0025032	Abnormality of digestive system physiology	27183	VPS4A	OMIM:619273
HP:0025032	Abnormality of digestive system physiology	10128	LRPPRC	OMIM:220111
HP:0025032	Abnormality of digestive system physiology	58499	ZNF462	ORPHA:502430
HP:0025032	Abnormality of digestive system physiology	58499	ZNF462	OMIM:618619
HP:0025032	Abnormality of digestive system physiology	10046	MAMLD1	ORPHA:456328
HP:0025032	Abnormality of digestive system physiology	4534	MTM1	ORPHA:456328
HP:0025032	Abnormality of digestive system physiology	347734	SLC35B2	OMIM:620269
HP:0025032	Abnormality of digestive system physiology	1119	CHKA	OMIM:620023
HP:0025032	Abnormality of digestive system physiology	8496	PPFIBP1	OMIM:620024
HP:0025032	Abnormality of digestive system physiology	9690	UBE3C	OMIM:620270
HP:0025032	Abnormality of digestive system physiology	51218	GLRX5	ORPHA:401866
HP:0025032	Abnormality of digestive system physiology	10324	KLHL41	ORPHA:171436
HP:0025032	Abnormality of digestive system physiology	10324	KLHL41	ORPHA:171439
HP:0025032	Abnormality of digestive system physiology	1073	CFL2	ORPHA:171436
HP:0025032	Abnormality of digestive system physiology	9442	MED27	OMIM:619286
HP:0025032	Abnormality of digestive system physiology	55163	PNPO	ORPHA:79096
HP:0025032	Abnormality of digestive system physiology	1340	COX6B1	OMIM:619051
HP:0025032	Abnormality of digestive system physiology	51360	MBTPS2	ORPHA:2273
HP:0025032	Abnormality of digestive system physiology	100131801	PET100	OMIM:619055
HP:0025032	Abnormality of digestive system physiology	9739	SETD1A	OMIM:619056
HP:0025032	Abnormality of digestive system physiology	93986	FOXP2	ORPHA:209908
HP:0025032	Abnormality of digestive system physiology	26523	AGO1	OMIM:620292
HP:0025032	Abnormality of digestive system physiology	4212	MEIS2	OMIM:600987
HP:0025032	Abnormality of digestive system physiology	4338	MOCS2	OMIM:252160
HP:0025032	Abnormality of digestive system physiology	5826	ABCD4	OMIM:614857
HP:0025032	Abnormality of digestive system physiology	1267	CNP	OMIM:619071
HP:0025032	Abnormality of digestive system physiology	2627	GATA6	ORPHA:2255
HP:0025032	Abnormality of digestive system physiology	51010	EXOSC3	ORPHA:2254
HP:0025032	Abnormality of digestive system physiology	51010	EXOSC3	OMIM:614678
HP:0025032	Abnormality of digestive system physiology	7443	VRK1	ORPHA:2254
HP:0025032	Abnormality of digestive system physiology	91137	SLC25A46	ORPHA:2254
HP:0025032	Abnormality of digestive system physiology	9289	ADGRG1	ORPHA:98889
HP:0025032	Abnormality of digestive system physiology	27286	SRPX2	ORPHA:98889
HP:0025032	Abnormality of digestive system physiology	83475	DOHH	OMIM:620066
HP:0025032	Abnormality of digestive system physiology	10236	HNRNPR	OMIM:620073
HP:0025032	Abnormality of digestive system physiology	51611	DPH5	OMIM:620070
HP:0025032	Abnormality of digestive system physiology	8905	AP1S2	ORPHA:85329
HP:0025032	Abnormality of digestive system physiology	6558	SLC12A2	OMIM:619080
HP:0025032	Abnormality of digestive system physiology	6628	SNRPB	ORPHA:1393
HP:0025032	Abnormality of digestive system physiology	7025	NR2F1	OMIM:615722
HP:0025032	Abnormality of digestive system physiology	25828	TXN2	OMIM:616811
HP:0025032	Abnormality of digestive system physiology	3187	HNRNPH1	OMIM:620083
HP:0025032	Abnormality of digestive system physiology	2261	FGFR3	OMIM:100800
HP:0025032	Abnormality of digestive system physiology	84665	MYPN	ORPHA:171439
HP:0025032	Abnormality of digestive system physiology	390594	KBTBD13	ORPHA:171439
HP:0025032	Abnormality of digestive system physiology	50628	GEMIN4	OMIM:617913
HP:0025032	Abnormality of digestive system physiology	55681	SCYL2	ORPHA:1143
HP:0025032	Abnormality of digestive system physiology	84570	COL25A1	ORPHA:1143
HP:0025032	Abnormality of digestive system physiology	57222	ERGIC1	ORPHA:1143
HP:0025032	Abnormality of digestive system physiology	9775	EIF4A3	OMIM:268305
HP:0025032	Abnormality of digestive system physiology	667	DST	OMIM:614653
HP:0025032	Abnormality of digestive system physiology	10243	GPHN	OMIM:615501
HP:0025032	Abnormality of digestive system physiology	57017	COQ9	OMIM:614654
HP:0025032	Abnormality of digestive system physiology	57107	PDSS2	OMIM:614652
HP:0025032	Abnormality of digestive system physiology	63895	PIEZO2	ORPHA:2461
HP:0025032	Abnormality of digestive system physiology	100151683	RNU4ATAC	OMIM:210710
HP:0025032	Abnormality of digestive system physiology	29926	GMPPA	OMIM:615510
HP:0025032	Abnormality of digestive system physiology	85358	SHANK3	OMIM:606232
HP:0025032	Abnormality of digestive system physiology	113179	ADAT3	ORPHA:363528
HP:0025032	Abnormality of digestive system physiology	10157	AASS	ORPHA:2203
HP:0025032	Abnormality of digestive system physiology	2720	GLB1	ORPHA:79255
HP:0025032	Abnormality of digestive system physiology	9512	PMPCB	OMIM:617954
HP:0025032	Abnormality of digestive system physiology	10352	WARS2	OMIM:617710
HP:0025032	Abnormality of digestive system physiology	2058	EPRS1	OMIM:617951
HP:0025032	Abnormality of digestive system physiology	9361	LONP1	ORPHA:79243
HP:0025032	Abnormality of digestive system physiology	5160	PDHA1	ORPHA:79243
HP:0025032	Abnormality of digestive system physiology	5718	PSMD12	ORPHA:529962
HP:0025032	Abnormality of digestive system physiology	5718	PSMD12	OMIM:617516
HP:0025032	Abnormality of digestive system physiology	2186	BPTF	ORPHA:529962
HP:0025032	Abnormality of digestive system physiology	54664	TMEM106B	OMIM:617964
HP:0025032	Abnormality of digestive system physiology	2584	GALK1	ORPHA:79237
HP:0025032	Abnormality of digestive system physiology	112858	TP53RK	OMIM:617730
HP:0025032	Abnormality of digestive system physiology	11019	LIAS	OMIM:614462
HP:0025032	Abnormality of digestive system physiology	51501	HIKESHI	OMIM:616881
HP:0025032	Abnormality of digestive system physiology	29957	SLC25A24	OMIM:612289
HP:0025032	Abnormality of digestive system physiology	3704	ITPA	OMIM:616647
HP:0025032	Abnormality of digestive system physiology	51124	IER3IP1	OMIM:614231
HP:0025032	Abnormality of digestive system physiology	54870	QRICH1	OMIM:617982
HP:0025032	Abnormality of digestive system physiology	4780	NFE2L2	OMIM:617744
HP:0025032	Abnormality of digestive system physiology	55704	CCDC88A	OMIM:617507
HP:0025032	Abnormality of digestive system physiology	5500	PPP1CB	OMIM:617506
HP:0025032	Abnormality of digestive system physiology	4841	NONO	ORPHA:466791
HP:0025032	Abnormality of digestive system physiology	95	ACY1	OMIM:609924
HP:0025032	Abnormality of digestive system physiology	23545	ATP6V0A2	ORPHA:357074
HP:0025032	Abnormality of digestive system physiology	529	ATP6V1E1	ORPHA:357074
HP:0025032	Abnormality of digestive system physiology	440	ASNS	OMIM:615574
HP:0025032	Abnormality of digestive system physiology	200205	IBA57	OMIM:615330
HP:0025032	Abnormality of digestive system physiology	84631	SLITRK2	OMIM:301107
HP:0025032	Abnormality of digestive system physiology	2890	GRIA1	OMIM:619931
HP:0025032	Abnormality of digestive system physiology	25974	MMACHC	ORPHA:79282
HP:0025032	Abnormality of digestive system physiology	9439	MED23	OMIM:614249
HP:0025032	Abnormality of digestive system physiology	5430	POLR2A	OMIM:618603
HP:0025032	Abnormality of digestive system physiology	1585	CYP11B2	ORPHA:556030
HP:0025032	Abnormality of digestive system physiology	57731	SPTBN4	OMIM:617519
HP:0025032	Abnormality of digestive system physiology	1807	DPYS	OMIM:222748
HP:0025032	Abnormality of digestive system physiology	37	ACADVL	ORPHA:26793
HP:0025032	Abnormality of digestive system physiology	18	ABAT	OMIM:613163
HP:0025032	Abnormality of digestive system physiology	92935	MARS2	OMIM:616430
HP:0025032	Abnormality of digestive system physiology	79587	CARS2	OMIM:616672
HP:0025032	Abnormality of digestive system physiology	4858	NOVA2	OMIM:618859
HP:0025032	Abnormality of digestive system physiology	25871	NEPRO	OMIM:618853
HP:0025032	Abnormality of digestive system physiology	9990	SLC12A6	OMIM:218000
HP:0025032	Abnormality of digestive system physiology	3476	IGBP1	OMIM:300472
HP:0025032	Abnormality of digestive system physiology	6095	RORA	OMIM:618060
HP:0025032	Abnormality of digestive system physiology	7360	UGP2	OMIM:618744
HP:0025032	Abnormality of digestive system physiology	26115	TANC2	OMIM:618906
HP:0025032	Abnormality of digestive system physiology	100033413	SNORD116-1	OMIM:176270
HP:0025032	Abnormality of digestive system physiology	8924	HERC2	OMIM:176270
HP:0025032	Abnormality of digestive system physiology	23742	NPAP1	OMIM:176270
HP:0025032	Abnormality of digestive system physiology	338433	SNORD115-1	OMIM:176270
HP:0025032	Abnormality of digestive system physiology	7681	MKRN3	OMIM:176270
HP:0025032	Abnormality of digestive system physiology	145624	PWAR1	OMIM:176270
HP:0025032	Abnormality of digestive system physiology	3653	IPW	OMIM:176270
HP:0025032	Abnormality of digestive system physiology	791114	PWRN1	OMIM:176270
HP:0025032	Abnormality of digestive system physiology	411	ARSB	OMIM:253200
HP:0025032	Abnormality of digestive system physiology	3020	H3-3A	OMIM:619720
HP:0025032	Abnormality of digestive system physiology	3021	H3-3B	OMIM:619721
HP:0025032	Abnormality of digestive system physiology	4953	ODC1	ORPHA:544488
HP:0025032	Abnormality of digestive system physiology	28960	DCPS	OMIM:616459
HP:0025032	Abnormality of digestive system physiology	55768	NGLY1	ORPHA:404454
HP:0025032	Abnormality of digestive system physiology	3899	AFF3	OMIM:619297
HP:0025032	Abnormality of digestive system physiology	84188	FAR1	OMIM:619338
HP:0025032	Abnormality of digestive system physiology	23317	DNAJC13	ORPHA:411602
HP:0025032	Abnormality of digestive system physiology	1981	EIF4G1	ORPHA:411602
HP:0025032	Abnormality of digestive system physiology	55737	VPS35	ORPHA:411602
HP:0025032	Abnormality of digestive system physiology	26058	GIGYF2	ORPHA:411602
HP:0025032	Abnormality of digestive system physiology	9969	MED13	OMIM:618009
HP:0025032	Abnormality of digestive system physiology	84823	LMNB2	OMIM:619180
HP:0025032	Abnormality of digestive system physiology	55186	SLC25A36	OMIM:620211
HP:0025032	Abnormality of digestive system physiology	5518	PPP2R1A	OMIM:616362
HP:0025032	Abnormality of digestive system physiology	65109	UPF3B	OMIM:300676
HP:0025032	Abnormality of digestive system physiology	29927	SEC61A1	OMIM:617056
HP:0025032	Abnormality of digestive system physiology	8405	SPOP	OMIM:618829
HP:0025032	Abnormality of digestive system physiology	7841	MOGS	ORPHA:79330
HP:0025032	Abnormality of digestive system physiology	9338	TCEAL1	OMIM:301094
HP:0025032	Abnormality of digestive system physiology	7030	TFE3	OMIM:301066
HP:0025032	Abnormality of digestive system physiology	1984	EIF5A	OMIM:619376
HP:0025032	Abnormality of digestive system physiology	64321	SOX17	OMIM:613674
HP:0025032	Abnormality of digestive system physiology	7319	UBE2A	ORPHA:163956
HP:0025032	Abnormality of digestive system physiology	5062	PAK2	OMIM:618458
HP:0025032	Abnormality of digestive system physiology	5696	PSMB8	OMIM:256040
HP:0025032	Abnormality of digestive system physiology	2859	GPR35	ORPHA:171
HP:0025032	Abnormality of digestive system physiology	10507	SEMA4D	ORPHA:171
HP:0025032	Abnormality of digestive system physiology	4485	MST1	ORPHA:171
HP:0025032	Abnormality of digestive system physiology	6925	TCF4	ORPHA:171
HP:0025032	Abnormality of digestive system physiology	215	ABCD1	ORPHA:388
HP:0025032	Abnormality of digestive system physiology	5979	RET	ORPHA:388
HP:0025032	Abnormality of digestive system physiology	2668	GDNF	ORPHA:388
HP:0025032	Abnormality of digestive system physiology	6608	SMO	ORPHA:388
HP:0025032	Abnormality of digestive system physiology	1889	ECE1	ORPHA:388
HP:0025032	Abnormality of digestive system physiology	6720	SREBF1	ORPHA:388
HP:0025032	Abnormality of digestive system physiology	1908	EDN3	ORPHA:388
HP:0025032	Abnormality of digestive system physiology	223117	SEMA3D	ORPHA:388
HP:0025032	Abnormality of digestive system physiology	1910	EDNRB	ORPHA:388
HP:0025032	Abnormality of digestive system physiology	10512	SEMA3C	ORPHA:388
HP:0025032	Abnormality of digestive system physiology	2064	ERBB2	ORPHA:388
HP:0025032	Abnormality of digestive system physiology	2065	ERBB3	ORPHA:388
HP:0025032	Abnormality of digestive system physiology	4902	NRTN	ORPHA:388
HP:0025032	Abnormality of digestive system physiology	6792	CDKL5	ORPHA:3095
HP:0025032	Abnormality of digestive system physiology	22854	NTNG1	ORPHA:3095
HP:0025032	Abnormality of digestive system physiology	9568	GABBR2	ORPHA:3095
HP:0025032	Abnormality of digestive system physiology	4204	MECP2	ORPHA:3095
HP:0025032	Abnormality of digestive system physiology	8243	SMC1A	ORPHA:3095
HP:0025032	Abnormality of digestive system physiology	5604	MAP2K1	ORPHA:1340
HP:0025032	Abnormality of digestive system physiology	5605	MAP2K2	ORPHA:1340
HP:0025032	Abnormality of digestive system physiology	673	BRAF	ORPHA:1340
HP:0025032	Abnormality of digestive system physiology	7305	TYROBP	ORPHA:2770
HP:0025032	Abnormality of digestive system physiology	54209	TREM2	ORPHA:2770
HP:0025032	Abnormality of digestive system physiology	595	CCND1	ORPHA:29073
HP:0025032	Abnormality of digestive system physiology	64682	ANAPC1	ORPHA:221008
HP:0025032	Abnormality of digestive system physiology	27178	IL37	OMIM:619398
HP:0025032	Abnormality of digestive system physiology	6868	ADAM17	OMIM:614328
HP:0025032	Abnormality of digestive system physiology	6868	ADAM17	ORPHA:294023
HP:0025032	Abnormality of digestive system physiology	10095	ARPC1B	OMIM:617718
HP:0025032	Abnormality of digestive system physiology	9652	SKIC3	ORPHA:84064
HP:0025032	Abnormality of digestive system physiology	6499	SKIC2	ORPHA:84064
HP:0025032	Abnormality of digestive system physiology	2019	EN1	OMIM:619218
HP:0025032	Abnormality of digestive system physiology	126792	B3GALT6	OMIM:609465
HP:0025032	Abnormality of digestive system physiology	4125	MAN2B1	ORPHA:309282
HP:0025032	Abnormality of digestive system physiology	4125	MAN2B1	ORPHA:309288
HP:0025032	Abnormality of digestive system physiology	65082	VPS33A	ORPHA:505248
HP:0025032	Abnormality of digestive system physiology	10379	IRF9	OMIM:618648
HP:0025032	Abnormality of digestive system physiology	5376	PMP22	ORPHA:98916
HP:0025032	Abnormality of digestive system physiology	10755	GIPC1	ORPHA:98897
HP:0025032	Abnormality of digestive system physiology	3716	JAK1	OMIM:618999
HP:0025032	Abnormality of digestive system physiology	4860	PNP	ORPHA:760
HP:0025032	Abnormality of digestive system physiology	57192	MCOLN1	OMIM:252650
HP:0025032	Abnormality of digestive system physiology	8547	FCN3	OMIM:613860
HP:0025032	Abnormality of digestive system physiology	59067	IL21	OMIM:615767
HP:0025032	Abnormality of digestive system physiology	5700	PSMC1	OMIM:620071
HP:0025032	Abnormality of digestive system physiology	9578	CDC42BPB	OMIM:619841
HP:0025032	Abnormality of digestive system physiology	56479	KCNQ5	OMIM:617601
HP:0025032	Abnormality of digestive system physiology	2550	GABBR1	OMIM:620502
HP:0025032	Abnormality of digestive system physiology	23162	MAPK8IP3	OMIM:618443
HP:0025032	Abnormality of digestive system physiology	55037	PTCD3	OMIM:619057
HP:0025032	Abnormality of digestive system physiology	57520	HECW2	OMIM:617268
HP:0025032	Abnormality of digestive system physiology	10747	MASP2	OMIM:613791
HP:0025032	Abnormality of digestive system physiology	29775	CARD10	OMIM:619632
HP:0025032	Abnormality of digestive system physiology	55765	INAVA	OMIM:618077
HP:0025032	Abnormality of digestive system physiology	96459	FNIP1	OMIM:619705
HP:0025032	Abnormality of digestive system physiology	6135	RPL11	OMIM:612562
HP:0025032	Abnormality of digestive system physiology	81031	SLC2A10	ORPHA:3342
HP:0025032	Abnormality of digestive system physiology	9719	ADAMTSL2	ORPHA:1901
HP:0025032	Abnormality of digestive system physiology	9509	ADAMTS2	ORPHA:1901
HP:0025032	Abnormality of digestive system physiology	2743	GLRB	ORPHA:3197
HP:0025032	Abnormality of digestive system physiology	2741	GLRA1	ORPHA:3197
HP:0025032	Abnormality of digestive system physiology	84896	ATAD1	ORPHA:3197
HP:0025032	Abnormality of digestive system physiology	9152	SLC6A5	ORPHA:3197
HP:0025032	Abnormality of digestive system physiology	59	ACTA2	OMIM:613834
HP:0025032	Abnormality of digestive system physiology	6515	SLC2A3	ORPHA:399
HP:0025032	Abnormality of digestive system physiology	222663	SCUBE3	OMIM:619184
HP:0025032	Abnormality of digestive system physiology	4088	SMAD3	OMIM:613795
HP:0025032	Abnormality of digestive system physiology	7046	TGFBR1	OMIM:609192
HP:0025032	Abnormality of digestive system physiology	81704	DOCK8	OMIM:243700
HP:0025032	Abnormality of digestive system physiology	7042	TGFB2	OMIM:614816
HP:0025032	Abnormality of digestive system physiology	7043	TGFB3	OMIM:615582
HP:0025033	Abnormal digestive system morphology	7450	VWF	OMIM:193400
HP:0025033	Abnormal digestive system morphology	10128	LRPPRC	OMIM:220111
HP:0025033	Abnormal digestive system morphology	9791	PTDSS1	OMIM:151050
HP:0025033	Abnormal digestive system morphology	5447	POR	OMIM:201750
HP:0025033	Abnormal digestive system morphology	5447	POR	ORPHA:95699
HP:0025033	Abnormal digestive system morphology	23512	SUZ12	OMIM:618786
HP:0025033	Abnormal digestive system morphology	1024	CDK8	OMIM:618748
HP:0025033	Abnormal digestive system morphology	29957	SLC25A24	OMIM:612289
HP:0025033	Abnormal digestive system morphology	22800	RRAS2	OMIM:618624
HP:0025033	Abnormal digestive system morphology	1857	DVL3	OMIM:616894
HP:0025033	Abnormal digestive system morphology	8942	KYNU	OMIM:617661
HP:0025033	Abnormal digestive system morphology	1654	DDX3X	ORPHA:3338
HP:0025033	Abnormal digestive system morphology	4784	NFIX	OMIM:602535
HP:0025033	Abnormal digestive system morphology	84992	PIGY	ORPHA:247262
HP:0025033	Abnormal digestive system morphology	93210	PGAP3	ORPHA:247262
HP:0025033	Abnormal digestive system morphology	284098	PIGW	ORPHA:247262
HP:0025033	Abnormal digestive system morphology	9487	PIGL	ORPHA:247262
HP:0025033	Abnormal digestive system morphology	4081	MAB21L1	ORPHA:495875
HP:0025033	Abnormal digestive system morphology	1108	CHD4	OMIM:617159
HP:0025033	Abnormal digestive system morphology	157570	ESCO2	ORPHA:2319
HP:0025033	Abnormal digestive system morphology	157570	ESCO2	OMIM:216100
HP:0025033	Abnormal digestive system morphology	37	ACADVL	ORPHA:26793
HP:0025033	Abnormal digestive system morphology	1656	DDX6	OMIM:618653
HP:0025033	Abnormal digestive system morphology	1822	ATN1	OMIM:618494
HP:0025033	Abnormal digestive system morphology	1642	DDB1	OMIM:619426
HP:0025033	Abnormal digestive system morphology	26005	C2CD3	OMIM:615948
HP:0025033	Abnormal digestive system morphology	26040	SETBP1	ORPHA:798
HP:0025033	Abnormal digestive system morphology	375	ARF1	ORPHA:98892
HP:0025033	Abnormal digestive system morphology	4131	MAP1B	ORPHA:98892
HP:0025033	Abnormal digestive system morphology	23327	NEDD4L	ORPHA:98892
HP:0025033	Abnormal digestive system morphology	160418	TMTC3	ORPHA:98892
HP:0025033	Abnormal digestive system morphology	10564	ARFGEF2	ORPHA:98892
HP:0025033	Abnormal digestive system morphology	55780	ERMARD	ORPHA:98892
HP:0025033	Abnormal digestive system morphology	91754	NEK9	OMIM:614262
HP:0025033	Abnormal digestive system morphology	8425	LTBP4	OMIM:613177
HP:0025033	Abnormal digestive system morphology	6885	MAP3K7	OMIM:617137
HP:0025033	Abnormal digestive system morphology	4744	NEFH	OMIM:616924
HP:0025033	Abnormal digestive system morphology	9759	HDAC4	ORPHA:1001
HP:0025033	Abnormal digestive system morphology	4534	MTM1	OMIM:310400
HP:0025033	Abnormal digestive system morphology	6928	HNF1B	ORPHA:93111
HP:0025033	Abnormal digestive system morphology	274	BIN1	ORPHA:169189
HP:0025033	Abnormal digestive system morphology	64419	MTMR14	ORPHA:169189
HP:0025033	Abnormal digestive system morphology	4618	MYF6	ORPHA:169189
HP:0025033	Abnormal digestive system morphology	1785	DNM2	ORPHA:169189
HP:0025033	Abnormal digestive system morphology	6261	RYR1	ORPHA:169189
HP:0025033	Abnormal digestive system morphology	80781	COL18A1	OMIM:267750
HP:0025033	Abnormal digestive system morphology	80781	COL18A1	ORPHA:1571
HP:0025033	Abnormal digestive system morphology	388015	RTL1	ORPHA:96184
HP:0025033	Abnormal digestive system morphology	8788	DLK1	ORPHA:96184
HP:0025033	Abnormal digestive system morphology	55384	MEG3	ORPHA:96184
HP:0025033	Abnormal digestive system morphology	613	BCR	ORPHA:261330
HP:0025033	Abnormal digestive system morphology	1399	CRKL	ORPHA:261330
HP:0025033	Abnormal digestive system morphology	5594	MAPK1	ORPHA:261330
HP:0025033	Abnormal digestive system morphology	5831	PYCR1	OMIM:614438
HP:0025033	Abnormal digestive system morphology	4868	NPHS1	OMIM:256300
HP:0025033	Abnormal digestive system morphology	63895	PIEZO2	OMIM:248700
HP:0025033	Abnormal digestive system morphology	63895	PIEZO2	ORPHA:2461
HP:0025033	Abnormal digestive system morphology	5528	PPP2R5D	ORPHA:457279
HP:0025033	Abnormal digestive system morphology	5528	PPP2R5D	OMIM:616355
HP:0025033	Abnormal digestive system morphology	284058	KANSL1	OMIM:610443
HP:0025033	Abnormal digestive system morphology	9896	FIG4	OMIM:216340
HP:0025033	Abnormal digestive system morphology	9896	FIG4	ORPHA:3472
HP:0025033	Abnormal digestive system morphology	55697	VAC14	ORPHA:3472
HP:0025033	Abnormal digestive system morphology	404672	GTF2H5	OMIM:616395
HP:0025033	Abnormal digestive system morphology	25970	SH2B1	ORPHA:261197
HP:0025033	Abnormal digestive system morphology	127833	SYT2	OMIM:619461
HP:0025033	Abnormal digestive system morphology	529	ATP6V1E1	OMIM:617402
HP:0025033	Abnormal digestive system morphology	5062	PAK2	OMIM:618458
HP:0025033	Abnormal digestive system morphology	5062	PAK2	ORPHA:1571
HP:0025033	Abnormal digestive system morphology	2582	GALE	OMIM:620776
HP:0025033	Abnormal digestive system morphology	55670	PEX26	ORPHA:912
HP:0025033	Abnormal digestive system morphology	5824	PEX19	ORPHA:912
HP:0025033	Abnormal digestive system morphology	5828	PEX2	ORPHA:912
HP:0025033	Abnormal digestive system morphology	8504	PEX3	ORPHA:912
HP:0025033	Abnormal digestive system morphology	8799	PEX11B	ORPHA:912
HP:0025033	Abnormal digestive system morphology	9409	PEX16	ORPHA:912
HP:0025033	Abnormal digestive system morphology	5190	PEX6	ORPHA:912
HP:0025033	Abnormal digestive system morphology	5830	PEX5	ORPHA:912
HP:0025033	Abnormal digestive system morphology	5189	PEX1	ORPHA:912
HP:0025033	Abnormal digestive system morphology	5193	PEX12	ORPHA:912
HP:0025033	Abnormal digestive system morphology	5194	PEX13	ORPHA:912
HP:0025033	Abnormal digestive system morphology	5195	PEX14	ORPHA:912
HP:0025033	Abnormal digestive system morphology	5192	PEX10	ORPHA:912
HP:0025033	Abnormal digestive system morphology	3265	HRAS	OMIM:218040
HP:0025033	Abnormal digestive system morphology	871	SERPINH1	OMIM:613848
HP:0025033	Abnormal digestive system morphology	2737	GLI3	ORPHA:672
HP:0025033	Abnormal digestive system morphology	2737	GLI3	OMIM:146510
HP:0025033	Abnormal digestive system morphology	2737	GLI3	OMIM:175700
HP:0025033	Abnormal digestive system morphology	2737	GLI3	OMIM:174200
HP:0025033	Abnormal digestive system morphology	9361	LONP1	OMIM:600373
HP:0025033	Abnormal digestive system morphology	2294	FOXF1	OMIM:265380
HP:0025033	Abnormal digestive system morphology	2294	FOXF1	ORPHA:210122
HP:0025033	Abnormal digestive system morphology	117581	TWIST2	OMIM:227260
HP:0025033	Abnormal digestive system morphology	117581	TWIST2	ORPHA:1807
HP:0025033	Abnormal digestive system morphology	23556	PIGN	ORPHA:2059
HP:0025033	Abnormal digestive system morphology	23556	PIGN	ORPHA:280633
HP:0025033	Abnormal digestive system morphology	23556	PIGN	OMIM:614080
HP:0025033	Abnormal digestive system morphology	8195	MKKS	OMIM:236700
HP:0025033	Abnormal digestive system morphology	8195	MKKS	ORPHA:2473
HP:0025033	Abnormal digestive system morphology	145173	B3GLCT	ORPHA:709
HP:0025033	Abnormal digestive system morphology	6650	CAPN15	OMIM:619318
HP:0025033	Abnormal digestive system morphology	253738	EBF3	ORPHA:96148
HP:0025033	Abnormal digestive system morphology	1131	CHRM3	ORPHA:2970
HP:0025033	Abnormal digestive system morphology	1131	CHRM3	OMIM:100100
HP:0025033	Abnormal digestive system morphology	7473	WNT3	ORPHA:3301
HP:0025033	Abnormal digestive system morphology	7473	WNT3	OMIM:273395
HP:0025033	Abnormal digestive system morphology	340419	RSPO2	ORPHA:3301
HP:0025033	Abnormal digestive system morphology	9496	TBX4	ORPHA:3301
HP:0025033	Abnormal digestive system morphology	81839	VANGL1	ORPHA:3027
HP:0025033	Abnormal digestive system morphology	80199	FUZ	ORPHA:3027
HP:0025033	Abnormal digestive system morphology	10084	PQBP1	ORPHA:93950
HP:0025033	Abnormal digestive system morphology	10084	PQBP1	OMIM:309500
HP:0025033	Abnormal digestive system morphology	197131	UBR1	OMIM:243800
HP:0025033	Abnormal digestive system morphology	197131	UBR1	ORPHA:2315
HP:0025033	Abnormal digestive system morphology	6299	SALL1	OMIM:107480
HP:0025033	Abnormal digestive system morphology	6299	SALL1	ORPHA:857
HP:0025033	Abnormal digestive system morphology	267010	RNU12	OMIM:603116
HP:0025033	Abnormal digestive system morphology	267010	RNU12	ORPHA:85199
HP:0025033	Abnormal digestive system morphology	55112	DYNC2I1	ORPHA:93271
HP:0025033	Abnormal digestive system morphology	57560	IFT80	ORPHA:93271
HP:0025033	Abnormal digestive system morphology	57539	WDR35	ORPHA:93271
HP:0025033	Abnormal digestive system morphology	79659	DYNC2H1	ORPHA:93271
HP:0025033	Abnormal digestive system morphology	79659	DYNC2H1	OMIM:613091
HP:0025033	Abnormal digestive system morphology	89891	DYNC2I2	ORPHA:93271
HP:0025033	Abnormal digestive system morphology	4281	MID1	OMIM:300000
HP:0025033	Abnormal digestive system morphology	4281	MID1	ORPHA:2745
HP:0025033	Abnormal digestive system morphology	374654	KIF7	OMIM:200990
HP:0025033	Abnormal digestive system morphology	3313	HSPA9	OMIM:616854
HP:0025033	Abnormal digestive system morphology	2137	EXTL3	OMIM:617425
HP:0025033	Abnormal digestive system morphology	999	CDH1	OMIM:119580
HP:0025033	Abnormal digestive system morphology	999	CDH1	ORPHA:1997
HP:0025033	Abnormal digestive system morphology	29954	POMT2	OMIM:236670
HP:0025033	Abnormal digestive system morphology	79147	FKRP	OMIM:236670
HP:0025033	Abnormal digestive system morphology	2218	FKTN	OMIM:236670
HP:0025033	Abnormal digestive system morphology	10585	POMT1	OMIM:236670
HP:0025033	Abnormal digestive system morphology	9215	LARGE1	OMIM:236670
HP:0025033	Abnormal digestive system morphology	2187	FANCB	ORPHA:3412
HP:0025033	Abnormal digestive system morphology	2187	FANCB	ORPHA:84
HP:0025033	Abnormal digestive system morphology	2187	FANCB	OMIM:314390
HP:0025033	Abnormal digestive system morphology	1500	CTNND1	ORPHA:1997
HP:0025033	Abnormal digestive system morphology	6926	TBX3	ORPHA:3138
HP:0025033	Abnormal digestive system morphology	6926	TBX3	OMIM:181450
HP:0025033	Abnormal digestive system morphology	7547	ZIC3	OMIM:306955
HP:0025033	Abnormal digestive system morphology	7547	ZIC3	OMIM:314390
HP:0025033	Abnormal digestive system morphology	4072	EPCAM	ORPHA:92050
HP:0025033	Abnormal digestive system morphology	105371045	PERCC1	ORPHA:92050
HP:0025033	Abnormal digestive system morphology	2263	FGFR2	ORPHA:93260
HP:0025033	Abnormal digestive system morphology	2263	FGFR2	ORPHA:93259
HP:0025033	Abnormal digestive system morphology	83871	RAB34	OMIM:620718
HP:0025033	Abnormal digestive system morphology	9401	RECQL4	ORPHA:1225
HP:0025033	Abnormal digestive system morphology	9401	RECQL4	OMIM:218600
HP:0025033	Abnormal digestive system morphology	23522	KAT6B	OMIM:606170
HP:0025033	Abnormal digestive system morphology	9968	MED12	ORPHA:93932
HP:0025033	Abnormal digestive system morphology	9968	MED12	OMIM:305450
HP:0025033	Abnormal digestive system morphology	5308	PITX2	OMIM:180500
HP:0025033	Abnormal digestive system morphology	10459	MAD2L2	ORPHA:84
HP:0025033	Abnormal digestive system morphology	7516	XRCC2	ORPHA:84
HP:0025033	Abnormal digestive system morphology	29089	UBE2T	ORPHA:84
HP:0025033	Abnormal digestive system morphology	55120	FANCL	ORPHA:84
HP:0025033	Abnormal digestive system morphology	55120	FANCL	OMIM:614083
HP:0025033	Abnormal digestive system morphology	2177	FANCD2	ORPHA:84
HP:0025033	Abnormal digestive system morphology	2175	FANCA	ORPHA:84
HP:0025033	Abnormal digestive system morphology	2176	FANCC	ORPHA:84
HP:0025033	Abnormal digestive system morphology	2178	FANCE	ORPHA:84
HP:0025033	Abnormal digestive system morphology	2188	FANCF	ORPHA:84
HP:0025033	Abnormal digestive system morphology	2189	FANCG	ORPHA:84
HP:0025033	Abnormal digestive system morphology	5888	RAD51	ORPHA:84
HP:0025033	Abnormal digestive system morphology	5888	RAD51	OMIM:617244
HP:0025033	Abnormal digestive system morphology	5889	RAD51C	ORPHA:84
HP:0025033	Abnormal digestive system morphology	5889	RAD51C	OMIM:613390
HP:0025033	Abnormal digestive system morphology	55159	RFWD3	ORPHA:84
HP:0025033	Abnormal digestive system morphology	83990	BRIP1	ORPHA:84
HP:0025033	Abnormal digestive system morphology	57697	FANCM	ORPHA:84
HP:0025033	Abnormal digestive system morphology	79728	PALB2	ORPHA:84
HP:0025033	Abnormal digestive system morphology	79728	PALB2	OMIM:610832
HP:0025033	Abnormal digestive system morphology	84464	SLX4	ORPHA:84
HP:0025033	Abnormal digestive system morphology	2072	ERCC4	ORPHA:84
HP:0025033	Abnormal digestive system morphology	55215	FANCI	ORPHA:84
HP:0025033	Abnormal digestive system morphology	25942	SIN3A	ORPHA:94065
HP:0025033	Abnormal digestive system morphology	25	ABL1	OMIM:617602
HP:0025033	Abnormal digestive system morphology	23065	EMC1	OMIM:616875
HP:0025033	Abnormal digestive system morphology	23065	EMC1	ORPHA:480898
HP:0025033	Abnormal digestive system morphology	55012	PPP2R3C	OMIM:618419
HP:0025033	Abnormal digestive system morphology	23495	TNFRSF13B	ORPHA:1572
HP:0025033	Abnormal digestive system morphology	4790	NFKB1	ORPHA:1572
HP:0025033	Abnormal digestive system morphology	4791	NFKB2	ORPHA:1572
HP:0025033	Abnormal digestive system morphology	115650	TNFRSF13C	ORPHA:1572
HP:0025033	Abnormal digestive system morphology	1380	CR2	ORPHA:1572
HP:0025033	Abnormal digestive system morphology	8742	TNFSF12	ORPHA:1572
HP:0025033	Abnormal digestive system morphology	930	CD19	ORPHA:1572
HP:0025033	Abnormal digestive system morphology	29851	ICOS	ORPHA:1572
HP:0025033	Abnormal digestive system morphology	931	MS4A1	ORPHA:1572
HP:0025033	Abnormal digestive system morphology	975	CD81	ORPHA:1572
HP:0025033	Abnormal digestive system morphology	359948	IRF2BP2	ORPHA:1572
HP:0025033	Abnormal digestive system morphology	55636	CHD7	OMIM:214800
HP:0025033	Abnormal digestive system morphology	10046	MAMLD1	ORPHA:95706
HP:0025033	Abnormal digestive system morphology	367	AR	ORPHA:95706
HP:0025033	Abnormal digestive system morphology	11193	WBP4	OMIM:620852
HP:0025033	Abnormal digestive system morphology	8642	DCHS1	OMIM:601390
HP:0025033	Abnormal digestive system morphology	6862	TBXT	OMIM:615709
HP:0025033	Abnormal digestive system morphology	54880	BCOR	OMIM:309800
HP:0025033	Abnormal digestive system morphology	8260	NAA10	OMIM:309800
HP:0025033	Abnormal digestive system morphology	54539	NDUFB11	OMIM:309801
HP:0025033	Abnormal digestive system morphology	1349	COX7B	OMIM:309801
HP:0025033	Abnormal digestive system morphology	3052	HCCS	OMIM:309801
HP:0025033	Abnormal digestive system morphology	55773	TBC1D23	OMIM:617695
HP:0025033	Abnormal digestive system morphology	92002	CCNQ	OMIM:300707
HP:0025033	Abnormal digestive system morphology	92002	CCNQ	ORPHA:140952
HP:0025033	Abnormal digestive system morphology	8239	USP9X	ORPHA:480880
HP:0025033	Abnormal digestive system morphology	8239	USP9X	OMIM:300968
HP:0025033	Abnormal digestive system morphology	84720	PIGO	OMIM:614749
HP:0025033	Abnormal digestive system morphology	10653	SPINT2	OMIM:270420
HP:0025033	Abnormal digestive system morphology	79228	THOC6	ORPHA:363444
HP:0025033	Abnormal digestive system morphology	79813	EHMT1	ORPHA:261652
HP:0025033	Abnormal digestive system morphology	58508	KMT2C	ORPHA:261652
HP:0025033	Abnormal digestive system morphology	8318	CDC45	OMIM:617063
HP:0025033	Abnormal digestive system morphology	51339	DACT1	OMIM:617466
HP:0025033	Abnormal digestive system morphology	51339	DACT1	ORPHA:857
HP:0025033	Abnormal digestive system morphology	51339	DACT1	ORPHA:63260
HP:0025033	Abnormal digestive system morphology	79803	HPS6	OMIM:614075
HP:0025033	Abnormal digestive system morphology	23112	TNRC6B	OMIM:619243
HP:0025033	Abnormal digestive system morphology	57466	SCAF4	OMIM:620511
HP:0025033	Abnormal digestive system morphology	7291	TWIST1	OMIM:617746
HP:0025033	Abnormal digestive system morphology	139285	AMER1	OMIM:300373
HP:0025033	Abnormal digestive system morphology	9897	WASHC5	OMIM:220210
HP:0025033	Abnormal digestive system morphology	9897	WASHC5	ORPHA:7
HP:0025033	Abnormal digestive system morphology	153241	CEP120	OMIM:616300
HP:0025033	Abnormal digestive system morphology	7476	WNT7A	ORPHA:2879
HP:0025033	Abnormal digestive system morphology	25836	NIPBL	OMIM:122470
HP:0025033	Abnormal digestive system morphology	1807	DPYS	OMIM:222748
HP:0025033	Abnormal digestive system morphology	26123	TCTN3	ORPHA:2753
HP:0025033	Abnormal digestive system morphology	28952	CCDC22	ORPHA:7
HP:0025033	Abnormal digestive system morphology	57020	VPS35L	ORPHA:7
HP:0025033	Abnormal digestive system morphology	56896	DPYSL5	ORPHA:7
HP:0025033	Abnormal digestive system morphology	51733	UPB1	OMIM:613161
HP:0025033	Abnormal digestive system morphology	54903	MKS1	OMIM:249000
HP:0025033	Abnormal digestive system morphology	54101	RIPK4	OMIM:263650
HP:0025033	Abnormal digestive system morphology	9573	GDF3	ORPHA:2345
HP:0025033	Abnormal digestive system morphology	392255	GDF6	ORPHA:2345
HP:0025033	Abnormal digestive system morphology	4222	MEOX1	ORPHA:2345
HP:0025033	Abnormal digestive system morphology	27152	INTU	OMIM:617925
HP:0025033	Abnormal digestive system morphology	2719	GPC3	OMIM:312870
HP:0025033	Abnormal digestive system morphology	2239	GPC4	OMIM:312870
HP:0025033	Abnormal digestive system morphology	3981	LIG4	ORPHA:235
HP:0025033	Abnormal digestive system morphology	54888	NSUN2	ORPHA:235
HP:0025033	Abnormal digestive system morphology	6628	SNRPB	OMIM:117650
HP:0025033	Abnormal digestive system morphology	6608	SMO	OMIM:601707
HP:0025033	Abnormal digestive system morphology	6023	RMRP	OMIM:250250
HP:0025033	Abnormal digestive system morphology	775	CACNA1C	OMIM:620029
HP:0025033	Abnormal digestive system morphology	27315	PGAP2	OMIM:614207
HP:0025033	Abnormal digestive system morphology	158326	FREM1	ORPHA:2717
HP:0025033	Abnormal digestive system morphology	158326	FREM1	ORPHA:217266
HP:0025033	Abnormal digestive system morphology	158326	FREM1	OMIM:248450
HP:0025033	Abnormal digestive system morphology	8626	TP63	OMIM:604292
HP:0025033	Abnormal digestive system morphology	1009	CDH11	OMIM:211380
HP:0025033	Abnormal digestive system morphology	2296	FOXC1	ORPHA:782
HP:0025033	Abnormal digestive system morphology	84667	HES7	OMIM:613686
HP:0025033	Abnormal digestive system morphology	55612	FERMT1	OMIM:173650
HP:0025033	Abnormal digestive system morphology	79633	FAT4	ORPHA:314679
HP:0025033	Abnormal digestive system morphology	1294	COL7A1	OMIM:226600
HP:0025033	Abnormal digestive system morphology	1294	COL7A1	ORPHA:89842
HP:0025033	Abnormal digestive system morphology	673	BRAF	OMIM:613706
HP:0025033	Abnormal digestive system morphology	6657	SOX2	ORPHA:77298
HP:0025033	Abnormal digestive system morphology	6657	SOX2	OMIM:206900
HP:0025033	Abnormal digestive system morphology	6657	SOX2	ORPHA:3157
HP:0025033	Abnormal digestive system morphology	7528	YY1	ORPHA:506358
HP:0025033	Abnormal digestive system morphology	3691	ITGB4	OMIM:226730
HP:0025033	Abnormal digestive system morphology	5339	PLEC	OMIM:226730
HP:0025033	Abnormal digestive system morphology	10606	PAICS	OMIM:619859
HP:0025033	Abnormal digestive system morphology	5422	POLA1	OMIM:301030
HP:0025033	Abnormal digestive system morphology	51729	WBP11	OMIM:619227
HP:0025033	Abnormal digestive system morphology	6602	SMARCD1	OMIM:618779
HP:0025033	Abnormal digestive system morphology	4990	SIX6	OMIM:206900
HP:0025033	Abnormal digestive system morphology	9343	EFTUD2	OMIM:610536
HP:0025033	Abnormal digestive system morphology	128674	PROKR2	ORPHA:3157
HP:0025033	Abnormal digestive system morphology	6658	SOX3	ORPHA:3157
HP:0025033	Abnormal digestive system morphology	9915	ARNT2	ORPHA:3157
HP:0025033	Abnormal digestive system morphology	8820	HESX1	ORPHA:3157
HP:0025033	Abnormal digestive system morphology	5015	OTX2	ORPHA:3157
HP:0025033	Abnormal digestive system morphology	5053	PAH	ORPHA:2209
HP:0025033	Abnormal digestive system morphology	55650	PIGV	OMIM:239300
HP:0025033	Abnormal digestive system morphology	54808	DYM	OMIM:223800
HP:0025033	Abnormal digestive system morphology	6197	RPS6KA3	OMIM:303600
HP:0025033	Abnormal digestive system morphology	54496	PRMT7	OMIM:617157
HP:0025033	Abnormal digestive system morphology	4000	LMNA	OMIM:619793
HP:0025033	Abnormal digestive system morphology	3643	INSR	OMIM:246200
HP:0025033	Abnormal digestive system morphology	3643	INSR	ORPHA:508
HP:0025033	Abnormal digestive system morphology	2947	GSTM3	ORPHA:586
HP:0025033	Abnormal digestive system morphology	2729	GCLC	ORPHA:586
HP:0025033	Abnormal digestive system morphology	1084	CEACAM3	ORPHA:586
HP:0025033	Abnormal digestive system morphology	6556	SLC11A1	ORPHA:586
HP:0025033	Abnormal digestive system morphology	51164	DCTN4	ORPHA:586
HP:0025033	Abnormal digestive system morphology	3783	KCNN4	ORPHA:586
HP:0025033	Abnormal digestive system morphology	4282	MIF	ORPHA:586
HP:0025033	Abnormal digestive system morphology	1909	EDNRA	ORPHA:586
HP:0025033	Abnormal digestive system morphology	3162	HMOX1	ORPHA:586
HP:0025033	Abnormal digestive system morphology	115019	SLC26A9	ORPHA:586
HP:0025033	Abnormal digestive system morphology	3077	HFE	ORPHA:586
HP:0025033	Abnormal digestive system morphology	11254	SLC6A14	ORPHA:586
HP:0025033	Abnormal digestive system morphology	22802	CLCA4	ORPHA:586
HP:0025033	Abnormal digestive system morphology	4680	CEACAM6	ORPHA:586
HP:0025033	Abnormal digestive system morphology	84231	TRAF7	OMIM:618164
HP:0025033	Abnormal digestive system morphology	84942	WDR73	OMIM:251300
HP:0025033	Abnormal digestive system morphology	84942	WDR73	ORPHA:2065
HP:0025033	Abnormal digestive system morphology	5832	ALDH18A1	OMIM:601162
HP:0025033	Abnormal digestive system morphology	1277	COL1A1	ORPHA:287
HP:0025033	Abnormal digestive system morphology	1290	COL5A2	ORPHA:287
HP:0025033	Abnormal digestive system morphology	7148	TNXB	OMIM:606408
HP:0025033	Abnormal digestive system morphology	7043	TGFB3	OMIM:615582
HP:0025033	Abnormal digestive system morphology	169792	GLIS3	OMIM:610199
HP:0025033	Abnormal digestive system morphology	23261	CAMTA1	OMIM:614756
HP:0025033	Abnormal digestive system morphology	84520	GON7	OMIM:619603
HP:0025033	Abnormal digestive system morphology	84520	GON7	ORPHA:2065
HP:0025033	Abnormal digestive system morphology	79693	YRDC	ORPHA:2065
HP:0025033	Abnormal digestive system morphology	51002	TPRKB	ORPHA:2065
HP:0025033	Abnormal digestive system morphology	55644	OSGEP	ORPHA:2065
HP:0025033	Abnormal digestive system morphology	55644	OSGEP	OMIM:617729
HP:0025033	Abnormal digestive system morphology	57122	NUP107	ORPHA:2065
HP:0025033	Abnormal digestive system morphology	10785	WDR4	ORPHA:2065
HP:0025033	Abnormal digestive system morphology	55746	NUP133	ORPHA:2065
HP:0025033	Abnormal digestive system morphology	112858	TP53RK	ORPHA:2065
HP:0025033	Abnormal digestive system morphology	8270	LAGE3	ORPHA:2065
HP:0025033	Abnormal digestive system morphology	51341	ZBTB7A	OMIM:619769
HP:0025033	Abnormal digestive system morphology	7454	WAS	OMIM:301000
HP:0025033	Abnormal digestive system morphology	7454	WAS	ORPHA:906
HP:0025033	Abnormal digestive system morphology	57680	CHD8	OMIM:615032
HP:0025033	Abnormal digestive system morphology	5243	ABCB1	OMIM:612244
HP:0025033	Abnormal digestive system morphology	3257	HPS1	OMIM:203300
HP:0025033	Abnormal digestive system morphology	987	LRBA	OMIM:614700
HP:0025033	Abnormal digestive system morphology	7456	WIPF1	ORPHA:906
HP:0025033	Abnormal digestive system morphology	2542	SLC37A4	OMIM:232220
HP:0025033	Abnormal digestive system morphology	2542	SLC37A4	ORPHA:79259
HP:0025033	Abnormal digestive system morphology	2542	SLC37A4	OMIM:232240
HP:0025033	Abnormal digestive system morphology	59067	IL21	OMIM:615767
HP:0025033	Abnormal digestive system morphology	2165	F13B	ORPHA:331
HP:0025033	Abnormal digestive system morphology	2162	F13A1	ORPHA:331
HP:0025033	Abnormal digestive system morphology	3123	HLA-DRB1	OMIM:181000
HP:0025033	Abnormal digestive system morphology	10616	RBCK1	OMIM:615895
HP:0025033	Abnormal digestive system morphology	5777	PTPN6	ORPHA:3243
HP:0025033	Abnormal digestive system morphology	345611	IRGM	OMIM:612278
HP:0025033	Abnormal digestive system morphology	8517	IKBKG	ORPHA:98813
HP:0025033	Abnormal digestive system morphology	4792	NFKBIA	ORPHA:98813
HP:0025033	Abnormal digestive system morphology	2395	FXN	ORPHA:95
HP:0025033	Abnormal digestive system morphology	3988	LIPA	ORPHA:75233
HP:0025033	Abnormal digestive system morphology	3988	LIPA	OMIM:278000
HP:0025033	Abnormal digestive system morphology	3988	LIPA	ORPHA:75234
HP:0025033	Abnormal digestive system morphology	2658	GDF2	ORPHA:774
HP:0025033	Abnormal digestive system morphology	94	ACVRL1	ORPHA:774
HP:0025033	Abnormal digestive system morphology	4089	SMAD4	ORPHA:774
HP:0025033	Abnormal digestive system morphology	2022	ENG	ORPHA:774
HP:0025033	Abnormal digestive system morphology	875	CBS	ORPHA:394
HP:0025033	Abnormal digestive system morphology	7840	ALMS1	ORPHA:64
HP:0025033	Abnormal digestive system morphology	811	CALR	ORPHA:131
HP:0025033	Abnormal digestive system morphology	3717	JAK2	ORPHA:131
HP:0025033	Abnormal digestive system morphology	2153	F5	ORPHA:131
HP:0025033	Abnormal digestive system morphology	2629	GBA1	ORPHA:2072
HP:0025033	Abnormal digestive system morphology	79989	IFT56	OMIM:619534
HP:0025033	Abnormal digestive system morphology	5314	PKHD1	OMIM:263200
HP:0025033	Abnormal digestive system morphology	5314	PKHD1	ORPHA:53035
HP:0025033	Abnormal digestive system morphology	5314	PKHD1	ORPHA:731
HP:0025033	Abnormal digestive system morphology	55532	SLC30A10	ORPHA:309854
HP:0025033	Abnormal digestive system morphology	54567	DLL4	OMIM:616589
HP:0025033	Abnormal digestive system morphology	54567	DLL4	ORPHA:974
HP:0025033	Abnormal digestive system morphology	2632	GBE1	OMIM:232500
HP:0025033	Abnormal digestive system morphology	4851	NOTCH1	OMIM:616028
HP:0025033	Abnormal digestive system morphology	4851	NOTCH1	ORPHA:974
HP:0025033	Abnormal digestive system morphology	3875	KRT18	OMIM:215600
HP:0025033	Abnormal digestive system morphology	10056	FARSB	OMIM:613658
HP:0025033	Abnormal digestive system morphology	25913	POT1	OMIM:620367
HP:0025033	Abnormal digestive system morphology	91147	TMEM67	OMIM:216360
HP:0025033	Abnormal digestive system morphology	91147	TMEM67	ORPHA:84081
HP:0025033	Abnormal digestive system morphology	3594	IL12RB1	ORPHA:186
HP:0025033	Abnormal digestive system morphology	23534	TNPO3	ORPHA:186
HP:0025033	Abnormal digestive system morphology	3592	IL12A	ORPHA:186
HP:0025033	Abnormal digestive system morphology	6689	SPIB	ORPHA:186
HP:0025033	Abnormal digestive system morphology	5450	POU2AF1	ORPHA:186
HP:0025033	Abnormal digestive system morphology	9966	TNFSF15	ORPHA:186
HP:0025033	Abnormal digestive system morphology	79258	MMEL1	ORPHA:186
HP:0025033	Abnormal digestive system morphology	3663	IRF5	ORPHA:186
HP:0025033	Abnormal digestive system morphology	79991	STN1	OMIM:617341
HP:0025033	Abnormal digestive system morphology	1716	DGUOK	OMIM:617068
HP:0025033	Abnormal digestive system morphology	55340	GIMAP5	OMIM:619463
HP:0025033	Abnormal digestive system morphology	5256	PHKA2	ORPHA:264580
HP:0025033	Abnormal digestive system morphology	5261	PHKG2	ORPHA:264580
HP:0025033	Abnormal digestive system morphology	113220	KIF12	OMIM:619662
HP:0025033	Abnormal digestive system morphology	57511	COG6	OMIM:614576
HP:0025033	Abnormal digestive system morphology	51816	ADA2	OMIM:615688
HP:0025033	Abnormal digestive system morphology	2783	GNB2	OMIM:619503
HP:0025033	Abnormal digestive system morphology	9371	KIF3B	OMIM:618955
HP:0025033	Abnormal digestive system morphology	540	ATP7B	OMIM:277900
HP:0025033	Abnormal digestive system morphology	3516	RBPJ	ORPHA:974
HP:0025033	Abnormal digestive system morphology	57514	ARHGAP31	ORPHA:974
HP:0025033	Abnormal digestive system morphology	57572	DOCK6	ORPHA:974
HP:0025033	Abnormal digestive system morphology	285203	EOGT	ORPHA:974
HP:0025033	Abnormal digestive system morphology	199221	DZIP1L	ORPHA:731
HP:0025033	Abnormal digestive system morphology	3909	LAMA3	ORPHA:79404
HP:0025033	Abnormal digestive system morphology	3918	LAMC2	ORPHA:79404
HP:0025033	Abnormal digestive system morphology	3914	LAMB3	ORPHA:79404
HP:0025033	Abnormal digestive system morphology	3106	HLA-B	ORPHA:36426
HP:0025033	Abnormal digestive system morphology	10320	IKZF1	ORPHA:36426
HP:0025033	Abnormal digestive system morphology	54809	SAMD9	OMIM:617053
HP:0025033	Abnormal digestive system morphology	79977	GRHL2	OMIM:616029
HP:0025033	Abnormal digestive system morphology	10892	MALT1	OMIM:615468
HP:0025033	Abnormal digestive system morphology	64858	DCLRE1B	OMIM:620133
HP:0025033	Abnormal digestive system morphology	4854	NOTCH3	ORPHA:2591
HP:0025033	Abnormal digestive system morphology	5159	PDGFRB	ORPHA:2591
HP:0025033	Abnormal digestive system morphology	6772	STAT1	ORPHA:391487
HP:0025033	Abnormal digestive system morphology	22900	CARD8	OMIM:619079
HP:0025033	Abnormal digestive system morphology	6774	STAT3	OMIM:615952
HP:0025033	Abnormal digestive system morphology	50943	FOXP3	ORPHA:37042
HP:0025033	Abnormal digestive system morphology	5979	RET	ORPHA:1848
HP:0025033	Abnormal digestive system morphology	8516	ITGA8	ORPHA:1848
HP:0025033	Abnormal digestive system morphology	26281	FGF20	ORPHA:1848
HP:0025033	Abnormal digestive system morphology	2674	GFRA1	ORPHA:1848
HP:0025033	Abnormal digestive system morphology	7484	WNT9B	ORPHA:1848
HP:0025033	Abnormal digestive system morphology	80000	GREB1L	ORPHA:1848
HP:0025033	Abnormal digestive system morphology	5590	PRKCZ	ORPHA:1606
HP:0025033	Abnormal digestive system morphology	2563	GABRD	ORPHA:1606
HP:0025033	Abnormal digestive system morphology	23013	SPEN	ORPHA:1606
HP:0025033	Abnormal digestive system morphology	8510	MMP23B	ORPHA:1606
HP:0025033	Abnormal digestive system morphology	7798	LUZP1	ORPHA:1606
HP:0025033	Abnormal digestive system morphology	6497	SKI	ORPHA:1606
HP:0025033	Abnormal digestive system morphology	10630	PDPN	ORPHA:1606
HP:0025033	Abnormal digestive system morphology	3339	HSPG2	ORPHA:1606
HP:0025033	Abnormal digestive system morphology	10277	UBE4B	ORPHA:1606
HP:0025033	Abnormal digestive system morphology	8514	KCNAB2	ORPHA:1606
HP:0025033	Abnormal digestive system morphology	473	RERE	ORPHA:1606
HP:0025033	Abnormal digestive system morphology	63976	PRDM16	ORPHA:1606
HP:0025033	Abnormal digestive system morphology	54897	CASZ1	ORPHA:1606
HP:0025033	Abnormal digestive system morphology	83737	ITCH	ORPHA:228426
HP:0025033	Abnormal digestive system morphology	1281	COL3A1	ORPHA:286
HP:0025033	Abnormal digestive system morphology	1604	CD55	OMIM:226300
HP:0025033	Abnormal digestive system morphology	162	AP1B1	ORPHA:171851
HP:0025033	Abnormal digestive system morphology	1174	AP1S1	ORPHA:171851
HP:0025033	Abnormal digestive system morphology	5728	PTEN	ORPHA:397596
HP:0025033	Abnormal digestive system morphology	5293	PIK3CD	ORPHA:397596
HP:0025033	Abnormal digestive system morphology	5295	PIK3R1	ORPHA:397596
HP:0025033	Abnormal digestive system morphology	50485	SMARCAL1	ORPHA:1830
HP:0025033	Abnormal digestive system morphology	3110	MNX1	ORPHA:1552
HP:0025033	Abnormal digestive system morphology	917	CD3G	OMIM:615607
HP:0025033	Abnormal digestive system morphology	4645	MYO5B	OMIM:251850
HP:0025033	Abnormal digestive system morphology	1908	EDN3	ORPHA:897
HP:0025033	Abnormal digestive system morphology	4286	MITF	ORPHA:897
HP:0025033	Abnormal digestive system morphology	1910	EDNRB	ORPHA:897
HP:0025033	Abnormal digestive system morphology	6663	SOX10	ORPHA:897
HP:0025033	Abnormal digestive system morphology	83483	PLVAP	OMIM:618183
HP:0025033	Abnormal digestive system morphology	4351	MPI	ORPHA:79319
HP:0025033	Abnormal digestive system morphology	4351	MPI	OMIM:602579
HP:0025033	Abnormal digestive system morphology	54914	FOCAD	OMIM:619991
HP:0025033	Abnormal digestive system morphology	5286	PIK3C2A	OMIM:618440
HP:0025033	Abnormal digestive system morphology	29929	ALG6	ORPHA:79320
HP:0025033	Abnormal digestive system morphology	56052	ALG1	ORPHA:79327
HP:0025033	Abnormal digestive system morphology	100303755	PET117	OMIM:619063
HP:0025033	Abnormal digestive system morphology	9508	ADAMTS3	OMIM:618154
HP:0025033	Abnormal digestive system morphology	8694	DGAT1	OMIM:615863
HP:0025033	Abnormal digestive system morphology	84342	COG8	ORPHA:95428
HP:0025033	Abnormal digestive system morphology	29760	BLNK	OMIM:613502
HP:0025033	Abnormal digestive system morphology	79053	ALG8	OMIM:608104
HP:0025033	Abnormal digestive system morphology	7852	CXCR4	ORPHA:51636
HP:0025033	Abnormal digestive system morphology	9939	RBM8A	OMIM:274000
HP:0025033	Abnormal digestive system morphology	8241	RBM10	ORPHA:2886
HP:0025033	Abnormal digestive system morphology	51684	SUFU	ORPHA:280200
HP:0025033	Abnormal digestive system morphology	51780	KDM3B	OMIM:618846
HP:0025033	Abnormal digestive system morphology	25914	RTTN	ORPHA:468631
HP:0025033	Abnormal digestive system morphology	1859	DYRK1A	ORPHA:464311
HP:0025033	Abnormal digestive system morphology	10262	SF3B4	OMIM:154400
HP:0025033	Abnormal digestive system morphology	26128	KIFBP	OMIM:609460
HP:0025033	Abnormal digestive system morphology	26128	KIFBP	ORPHA:66629
HP:0025033	Abnormal digestive system morphology	64324	NSD1	ORPHA:821
HP:0025033	Abnormal digestive system morphology	10297	APC2	ORPHA:821
HP:0025033	Abnormal digestive system morphology	627	BDNF	ORPHA:661
HP:0025033	Abnormal digestive system morphology	10660	LBX1	ORPHA:661
HP:0025033	Abnormal digestive system morphology	283446	MYO1H	ORPHA:661
HP:0025033	Abnormal digestive system morphology	8929	PHOX2B	ORPHA:661
HP:0025033	Abnormal digestive system morphology	8929	PHOX2B	ORPHA:99803
HP:0025033	Abnormal digestive system morphology	8929	PHOX2B	ORPHA:2151
HP:0025033	Abnormal digestive system morphology	8929	PHOX2B	OMIM:209880
HP:0025033	Abnormal digestive system morphology	8929	PHOX2B	OMIM:613013
HP:0025033	Abnormal digestive system morphology	23322	RPGRIP1L	ORPHA:220497
HP:0025033	Abnormal digestive system morphology	65062	TMEM237	ORPHA:220497
HP:0025033	Abnormal digestive system morphology	65062	TMEM237	ORPHA:2318
HP:0025033	Abnormal digestive system morphology	65062	TMEM237	ORPHA:475
HP:0025033	Abnormal digestive system morphology	83479	DDX59	OMIM:174300
HP:0025033	Abnormal digestive system morphology	83479	DDX59	ORPHA:2919
HP:0025033	Abnormal digestive system morphology	54806	AHI1	ORPHA:220493
HP:0025033	Abnormal digestive system morphology	54806	AHI1	ORPHA:475
HP:0025033	Abnormal digestive system morphology	56623	INPP5E	ORPHA:220493
HP:0025033	Abnormal digestive system morphology	56623	INPP5E	ORPHA:475
HP:0025033	Abnormal digestive system morphology	95681	CEP41	ORPHA:220493
HP:0025033	Abnormal digestive system morphology	95681	CEP41	ORPHA:475
HP:0025033	Abnormal digestive system morphology	429	ASCL1	ORPHA:99803
HP:0025033	Abnormal digestive system morphology	170302	ARX	ORPHA:452
HP:0025033	Abnormal digestive system morphology	51360	MBTPS2	ORPHA:2273
HP:0025033	Abnormal digestive system morphology	51360	MBTPS2	OMIM:308205
HP:0025033	Abnormal digestive system morphology	51360	MBTPS2	ORPHA:85284
HP:0025033	Abnormal digestive system morphology	79140	CCDC28B	OMIM:209900
HP:0025033	Abnormal digestive system morphology	79583	TMEM231	ORPHA:2318
HP:0025033	Abnormal digestive system morphology	51524	TMEM138	ORPHA:2318
HP:0025033	Abnormal digestive system morphology	23090	ZNF423	ORPHA:2318
HP:0025033	Abnormal digestive system morphology	57545	CC2D2A	ORPHA:2318
HP:0025033	Abnormal digestive system morphology	5077	PAX3	OMIM:148820
HP:0025033	Abnormal digestive system morphology	5077	PAX3	ORPHA:894
HP:0025033	Abnormal digestive system morphology	9851	KIAA0753	ORPHA:475
HP:0025033	Abnormal digestive system morphology	5147	PDE6D	ORPHA:475
HP:0025033	Abnormal digestive system morphology	79600	TCTN1	ORPHA:475
HP:0025033	Abnormal digestive system morphology	79848	CSPP1	ORPHA:475
HP:0025033	Abnormal digestive system morphology	65250	CPLANE1	ORPHA:475
HP:0025033	Abnormal digestive system morphology	200894	ARL13B	ORPHA:475
HP:0025033	Abnormal digestive system morphology	9731	CEP104	ORPHA:475
HP:0025033	Abnormal digestive system morphology	219844	HYLS1	ORPHA:475
HP:0025033	Abnormal digestive system morphology	23247	KATNIP	ORPHA:475
HP:0025033	Abnormal digestive system morphology	219854	TMEM218	ORPHA:475
HP:0025033	Abnormal digestive system morphology	9786	KIAA0586	ORPHA:475
HP:0025033	Abnormal digestive system morphology	79867	TCTN2	ORPHA:475
HP:0025033	Abnormal digestive system morphology	80776	B9D2	ORPHA:475
HP:0025033	Abnormal digestive system morphology	10464	PIBF1	ORPHA:475
HP:0025033	Abnormal digestive system morphology	80210	ARMC9	ORPHA:475
HP:0025033	Abnormal digestive system morphology	23116	TOGARAM1	ORPHA:475
HP:0025033	Abnormal digestive system morphology	25776	CBY1	ORPHA:475
HP:0025033	Abnormal digestive system morphology	27077	B9D1	ORPHA:475
HP:0025033	Abnormal digestive system morphology	403	ARL3	ORPHA:475
HP:0025033	Abnormal digestive system morphology	6591	SNAI2	ORPHA:2884
HP:0025033	Abnormal digestive system morphology	6591	SNAI2	ORPHA:895
HP:0025033	Abnormal digestive system morphology	7299	TYR	ORPHA:895
HP:0025033	Abnormal digestive system morphology	4254	KITLG	ORPHA:895
HP:0025033	Abnormal digestive system morphology	3897	L1CAM	OMIM:304100
HP:0025033	Abnormal digestive system morphology	3897	L1CAM	ORPHA:1497
HP:0025033	Abnormal digestive system morphology	5310	PKD1	OMIM:173900
HP:0025033	Abnormal digestive system morphology	10516	FBLN5	ORPHA:90348
HP:0025033	Abnormal digestive system morphology	10516	FBLN5	ORPHA:90349
HP:0025033	Abnormal digestive system morphology	4052	LTBP1	ORPHA:90349
HP:0025033	Abnormal digestive system morphology	4638	MYLK	OMIM:249210
HP:0025033	Abnormal digestive system morphology	4638	MYLK	ORPHA:2241
HP:0025033	Abnormal digestive system morphology	2138	EYA1	OMIM:113650
HP:0025033	Abnormal digestive system morphology	6495	SIX1	OMIM:113650
HP:0025033	Abnormal digestive system morphology	4750	NEK1	OMIM:263520
HP:0025033	Abnormal digestive system morphology	2132	EXT2	OMIM:616682
HP:0025033	Abnormal digestive system morphology	72	ACTG2	OMIM:619431
HP:0025033	Abnormal digestive system morphology	72	ACTG2	ORPHA:2241
HP:0025033	Abnormal digestive system morphology	79827	CLMP	OMIM:615237
HP:0025033	Abnormal digestive system morphology	79827	CLMP	ORPHA:2301
HP:0025033	Abnormal digestive system morphology	5885	RAD21	OMIM:614701
HP:0025033	Abnormal digestive system morphology	5885	RAD21	ORPHA:199
HP:0025033	Abnormal digestive system morphology	3659	IRF1	OMIM:620668
HP:0025033	Abnormal digestive system morphology	6091	ROBO1	OMIM:620305
HP:0025033	Abnormal digestive system morphology	2627	GATA6	OMIM:600001
HP:0025033	Abnormal digestive system morphology	2627	GATA6	ORPHA:2140
HP:0025033	Abnormal digestive system morphology	2627	GATA6	ORPHA:2255
HP:0025033	Abnormal digestive system morphology	1387	CREBBP	ORPHA:353281
HP:0025033	Abnormal digestive system morphology	1387	CREBBP	ORPHA:353277
HP:0025033	Abnormal digestive system morphology	80816	ASXL3	OMIM:615485
HP:0025033	Abnormal digestive system morphology	89910	UBE3B	OMIM:244450
HP:0025033	Abnormal digestive system morphology	8882	ZPR1	OMIM:619321
HP:0025033	Abnormal digestive system morphology	25790	CFAP45	OMIM:619608
HP:0025033	Abnormal digestive system morphology	2033	EP300	ORPHA:353284
HP:0025033	Abnormal digestive system morphology	2033	EP300	OMIM:613684
HP:0025033	Abnormal digestive system morphology	5915	RARB	OMIM:615524
HP:0025033	Abnormal digestive system morphology	51259	TMEM216	OMIM:603194
HP:0025033	Abnormal digestive system morphology	55997	CFC1	OMIM:605376
HP:0025033	Abnormal digestive system morphology	57492	ARID1B	OMIM:135900
HP:0025033	Abnormal digestive system morphology	815	CAMK2A	OMIM:617798
HP:0025033	Abnormal digestive system morphology	4853	NOTCH2	OMIM:102500
HP:0025033	Abnormal digestive system morphology	4853	NOTCH2	ORPHA:955
HP:0025033	Abnormal digestive system morphology	7994	KAT6A	ORPHA:457193
HP:0025033	Abnormal digestive system morphology	7994	KAT6A	OMIM:616268
HP:0025033	Abnormal digestive system morphology	1063	CENPF	OMIM:243605
HP:0025033	Abnormal digestive system morphology	118856	MMP21	OMIM:616749
HP:0025033	Abnormal digestive system morphology	3670	ISL1	ORPHA:93930
HP:0025033	Abnormal digestive system morphology	1717	DHCR7	OMIM:270400
HP:0025033	Abnormal digestive system morphology	8091	HMGA2	ORPHA:94063
HP:0025033	Abnormal digestive system morphology	23592	LEMD3	ORPHA:94063
HP:0025033	Abnormal digestive system morphology	23414	ZFPM2	ORPHA:2140
HP:0025033	Abnormal digestive system morphology	2316	FLNA	ORPHA:2301
HP:0025033	Abnormal digestive system morphology	2316	FLNA	OMIM:300048
HP:0025033	Abnormal digestive system morphology	4036	LRP2	ORPHA:2143
HP:0025033	Abnormal digestive system morphology	4036	LRP2	OMIM:222448
HP:0025033	Abnormal digestive system morphology	2065	ERBB3	OMIM:243180
HP:0025033	Abnormal digestive system morphology	3192	HNRNPU	ORPHA:238769
HP:0025033	Abnormal digestive system morphology	23476	BRD4	ORPHA:199
HP:0025033	Abnormal digestive system morphology	9126	SMC3	ORPHA:199
HP:0025033	Abnormal digestive system morphology	6878	TAF6	ORPHA:199
HP:0025033	Abnormal digestive system morphology	55869	HDAC8	ORPHA:199
HP:0025033	Abnormal digestive system morphology	64840	PORCN	OMIM:305600
HP:0025033	Abnormal digestive system morphology	10526	IPO8	OMIM:619472
HP:0025033	Abnormal digestive system morphology	113189	CHST14	OMIM:601776
HP:0025033	Abnormal digestive system morphology	1718	DHCR24	ORPHA:35107
HP:0025033	Abnormal digestive system morphology	27031	NPHP3	OMIM:208540
HP:0025033	Abnormal digestive system morphology	27031	NPHP3	ORPHA:3032
HP:0025033	Abnormal digestive system morphology	112752	IFT43	OMIM:617866
HP:0025033	Abnormal digestive system morphology	9772	TMEM94	OMIM:618316
HP:0025033	Abnormal digestive system morphology	25802	LMOD1	ORPHA:2241
HP:0025033	Abnormal digestive system morphology	745	MYRF	OMIM:618280
HP:0025033	Abnormal digestive system morphology	4087	SMAD2	OMIM:619657
HP:0025033	Abnormal digestive system morphology	59	ACTA2	OMIM:613834
HP:0025033	Abnormal digestive system morphology	79087	ALG12	ORPHA:79324
HP:0025033	Abnormal digestive system morphology	25981	DNAH1	ORPHA:244
HP:0025033	Abnormal digestive system morphology	115948	ODAD3	ORPHA:244
HP:0025033	Abnormal digestive system morphology	54768	HYDIN	ORPHA:244
HP:0025033	Abnormal digestive system morphology	352909	DNAAF3	ORPHA:244
HP:0025033	Abnormal digestive system morphology	27148	STK36	ORPHA:244
HP:0025033	Abnormal digestive system morphology	51314	NME8	ORPHA:244
HP:0025033	Abnormal digestive system morphology	92749	DRC1	ORPHA:244
HP:0025033	Abnormal digestive system morphology	54970	TTC12	ORPHA:244
HP:0025033	Abnormal digestive system morphology	152110	NEK10	ORPHA:244
HP:0025033	Abnormal digestive system morphology	8481	OFD1	ORPHA:244
HP:0025033	Abnormal digestive system morphology	2302	FOXJ1	ORPHA:244
HP:0025033	Abnormal digestive system morphology	221421	RSPH9	ORPHA:244
HP:0025033	Abnormal digestive system morphology	85478	CCDC65	ORPHA:244
HP:0025033	Abnormal digestive system morphology	55036	CCDC40	ORPHA:244
HP:0025033	Abnormal digestive system morphology	51364	ZMYND10	ORPHA:244
HP:0025033	Abnormal digestive system morphology	64446	DNAI2	ORPHA:244
HP:0025033	Abnormal digestive system morphology	8382	NME5	ORPHA:244
HP:0025033	Abnormal digestive system morphology	6674	SPAG1	ORPHA:244
HP:0025033	Abnormal digestive system morphology	83544	DNAL1	ORPHA:244
HP:0025033	Abnormal digestive system morphology	89765	RSPH1	ORPHA:244
HP:0025033	Abnormal digestive system morphology	83538	ODAD4	ORPHA:244
HP:0025033	Abnormal digestive system morphology	200373	CFAP221	ORPHA:244
HP:0025033	Abnormal digestive system morphology	374407	DNAJB13	ORPHA:244
HP:0025033	Abnormal digestive system morphology	55172	DNAAF2	ORPHA:244
HP:0025033	Abnormal digestive system morphology	161582	DNAAF4	ORPHA:244
HP:0025033	Abnormal digestive system morphology	2622	GAS8	ORPHA:244
HP:0025033	Abnormal digestive system morphology	23639	DNAAF11	ORPHA:244
HP:0025033	Abnormal digestive system morphology	27019	DNAI1	ORPHA:244
HP:0025033	Abnormal digestive system morphology	345895	RSPH4A	ORPHA:244
HP:0025033	Abnormal digestive system morphology	54919	DNAAF5	ORPHA:244
HP:0025033	Abnormal digestive system morphology	6103	RPGR	ORPHA:244
HP:0025033	Abnormal digestive system morphology	85452	CFAP74	ORPHA:244
HP:0025033	Abnormal digestive system morphology	93233	ODAD1	ORPHA:244
HP:0025033	Abnormal digestive system morphology	55130	ODAD2	ORPHA:244
HP:0025033	Abnormal digestive system morphology	1767	DNAH5	ORPHA:244
HP:0025033	Abnormal digestive system morphology	83861	RSPH3	ORPHA:244
HP:0025033	Abnormal digestive system morphology	345643	MCIDAS	ORPHA:244
HP:0025033	Abnormal digestive system morphology	56683	CFAP298	ORPHA:244
HP:0025033	Abnormal digestive system morphology	79925	SPEF2	ORPHA:244
HP:0025033	Abnormal digestive system morphology	10309	CCNO	ORPHA:244
HP:0025033	Abnormal digestive system morphology	115399	LRRC56	ORPHA:244
HP:0025033	Abnormal digestive system morphology	139212	DNAAF6	ORPHA:244
HP:0025033	Abnormal digestive system morphology	123872	DNAAF1	ORPHA:244
HP:0025033	Abnormal digestive system morphology	85016	CFAP300	ORPHA:244
HP:0025033	Abnormal digestive system morphology	339829	CCDC39	ORPHA:244
HP:0025033	Abnormal digestive system morphology	8701	DNAH11	ORPHA:244
HP:0025033	Abnormal digestive system morphology	1770	DNAH9	ORPHA:244
HP:0025033	Abnormal digestive system morphology	246176	GAS2L2	ORPHA:244
HP:0025033	Abnormal digestive system morphology	171023	ASXL1	OMIM:605039
HP:0025033	Abnormal digestive system morphology	10054	UBA2	OMIM:619959
HP:0025033	Abnormal digestive system morphology	6804	STX1A	ORPHA:904
HP:0025033	Abnormal digestive system morphology	7461	CLIP2	ORPHA:904
HP:0025033	Abnormal digestive system morphology	84277	DNAJC30	ORPHA:904
HP:0025033	Abnormal digestive system morphology	8468	FKBP6	ORPHA:904
HP:0025033	Abnormal digestive system morphology	5982	RFC2	ORPHA:904
HP:0025033	Abnormal digestive system morphology	2969	GTF2I	ORPHA:904
HP:0025033	Abnormal digestive system morphology	3984	LIMK1	ORPHA:904
HP:0025033	Abnormal digestive system morphology	9569	GTF2IRD1	ORPHA:904
HP:0025033	Abnormal digestive system morphology	155382	VPS37D	ORPHA:904
HP:0025033	Abnormal digestive system morphology	155368	METTL27	ORPHA:904
HP:0025033	Abnormal digestive system morphology	114049	BUD23	ORPHA:904
HP:0025033	Abnormal digestive system morphology	7458	EIF4H	ORPHA:904
HP:0025033	Abnormal digestive system morphology	84163	GTF2IRD2	ORPHA:904
HP:0025033	Abnormal digestive system morphology	26608	TBL2	ORPHA:904
HP:0025033	Abnormal digestive system morphology	653361	NCF1	ORPHA:904
HP:0025033	Abnormal digestive system morphology	653361	NCF1	ORPHA:379
HP:0025033	Abnormal digestive system morphology	135886	TMEM270	ORPHA:904
HP:0025033	Abnormal digestive system morphology	9031	BAZ1B	ORPHA:904
HP:0025033	Abnormal digestive system morphology	2006	ELN	ORPHA:904
HP:0025033	Abnormal digestive system morphology	6558	SLC12A2	OMIM:619083
HP:0025033	Abnormal digestive system morphology	84172	POLR1B	ORPHA:861
HP:0025033	Abnormal digestive system morphology	9533	POLR1C	ORPHA:861
HP:0025033	Abnormal digestive system morphology	51082	POLR1D	ORPHA:861
HP:0025033	Abnormal digestive system morphology	6949	TCOF1	ORPHA:861
HP:0025033	Abnormal digestive system morphology	55788	LMBRD1	OMIM:277380
HP:0025033	Abnormal digestive system morphology	9723	SEMA3E	ORPHA:138
HP:0025033	Abnormal digestive system morphology	1536	CYBB	ORPHA:379
HP:0025033	Abnormal digestive system morphology	1535	CYBA	ORPHA:379
HP:0025033	Abnormal digestive system morphology	4689	NCF4	ORPHA:379
HP:0025033	Abnormal digestive system morphology	85459	CEP295	OMIM:620767
HP:0025033	Abnormal digestive system morphology	2201	FBN2	ORPHA:115
HP:0025033	Abnormal digestive system morphology	657	BMPR1A	OMIM:174900
HP:0025033	Abnormal digestive system morphology	657	BMPR1A	ORPHA:157794
HP:0025033	Abnormal digestive system morphology	657	BMPR1A	ORPHA:79076
HP:0025033	Abnormal digestive system morphology	26585	GREM1	ORPHA:157794
HP:0025033	Abnormal digestive system morphology	30008	EFEMP2	OMIM:614437
HP:0025033	Abnormal digestive system morphology	412	STS	ORPHA:281090
HP:0025033	Abnormal digestive system morphology	9203	ZMYM3	OMIM:301111
HP:0025033	Abnormal digestive system morphology	129563	DIS3L2	OMIM:267000
HP:0025033	Abnormal digestive system morphology	7010	TEK	ORPHA:1059
HP:0025033	Abnormal digestive system morphology	738	VPS51	OMIM:618606
HP:0025033	Abnormal digestive system morphology	55690	PACS1	OMIM:615009
HP:0025033	Abnormal digestive system morphology	7407	VARS1	OMIM:617802
HP:0025033	Abnormal digestive system morphology	546	ATRX	ORPHA:847
HP:0025033	Abnormal digestive system morphology	2202	EFEMP1	OMIM:620780
HP:0025033	Abnormal digestive system morphology	64135	IFIH1	OMIM:615846
HP:0025033	Abnormal digestive system morphology	9051	PSTPIP1	OMIM:604416
HP:0025033	Abnormal digestive system morphology	4261	CIITA	OMIM:209920
HP:0025033	Abnormal digestive system morphology	5551	PRF1	ORPHA:540
HP:0025033	Abnormal digestive system morphology	8676	STX11	ORPHA:540
HP:0025033	Abnormal digestive system morphology	201294	UNC13D	ORPHA:540
HP:0025033	Abnormal digestive system morphology	6813	STXBP2	ORPHA:540
HP:0025033	Abnormal digestive system morphology	6813	STXBP2	OMIM:613101
HP:0025033	Abnormal digestive system morphology	23149	FCHO1	OMIM:619164
HP:0025033	Abnormal digestive system morphology	60468	BACH2	OMIM:618394
HP:0025033	Abnormal digestive system morphology	5699	PSMB10	OMIM:620807
HP:0025033	Abnormal digestive system morphology	7535	ZAP70	OMIM:617006
HP:0025033	Abnormal digestive system morphology	7535	ZAP70	ORPHA:911
HP:0025033	Abnormal digestive system morphology	5294	PIK3CG	OMIM:619802
HP:0025033	Abnormal digestive system morphology	81858	SHARPIN	OMIM:620795
HP:0025033	Abnormal digestive system morphology	338328	GPIHBP1	OMIM:615947
HP:0025033	Abnormal digestive system morphology	4067	LYN	OMIM:620376
HP:0025033	Abnormal digestive system morphology	324	APC	ORPHA:261584
HP:0025033	Abnormal digestive system morphology	64132	XYLT2	OMIM:605822
HP:0025033	Abnormal digestive system morphology	6850	SYK	OMIM:619381
HP:0025033	Abnormal digestive system morphology	1026	CDKN1A	ORPHA:652
HP:0025033	Abnormal digestive system morphology	1031	CDKN2C	ORPHA:652
HP:0025033	Abnormal digestive system morphology	5340	PLG	OMIM:217090
HP:0025033	Abnormal digestive system morphology	5340	PLG	ORPHA:722
HP:0025033	Abnormal digestive system morphology	4613	MYCN	OMIM:620748
HP:0025033	Abnormal digestive system morphology	4613	MYCN	OMIM:164280
HP:0025033	Abnormal digestive system morphology	4613	MYCN	ORPHA:391641
HP:0025033	Abnormal digestive system morphology	57217	TTC7A	ORPHA:2300
HP:0025033	Abnormal digestive system morphology	57217	TTC7A	ORPHA:436252
HP:0025033	Abnormal digestive system morphology	5297	PI4KA	ORPHA:436252
HP:0025033	Abnormal digestive system morphology	91574	MTRFR	ORPHA:254930
HP:0025033	Abnormal digestive system morphology	91574	MTRFR	OMIM:613559
HP:0025033	Abnormal digestive system morphology	2184	FAH	OMIM:276700
HP:0025033	Abnormal digestive system morphology	7466	WFS1	ORPHA:3463
HP:0025033	Abnormal digestive system morphology	9780	PIEZO1	OMIM:616843
HP:0025033	Abnormal digestive system morphology	55072	RNF31	OMIM:620632
HP:0025033	Abnormal digestive system morphology	147372	CCBE1	OMIM:235510
HP:0025033	Abnormal digestive system morphology	1080	CFTR	OMIM:219700
HP:0025033	Abnormal digestive system morphology	2212	FCGR2A	OMIM:219700
HP:0025033	Abnormal digestive system morphology	6535	SLC6A8	OMIM:300352
HP:0025033	Abnormal digestive system morphology	6535	SLC6A8	ORPHA:52503
HP:0025033	Abnormal digestive system morphology	2130	EWSR1	ORPHA:83469
HP:0025033	Abnormal digestive system morphology	7490	WT1	ORPHA:83469
HP:0025033	Abnormal digestive system morphology	284119	CAVIN1	OMIM:613327
HP:0025033	Abnormal digestive system morphology	3145	HMBS	ORPHA:79276
HP:0025033	Abnormal digestive system morphology	26153	KIF26A	OMIM:620156
HP:0025033	Abnormal digestive system morphology	23314	SATB2	ORPHA:576283
HP:0025033	Abnormal digestive system morphology	51322	WAC	ORPHA:284169
HP:0025033	Abnormal digestive system morphology	92482	BBIP1	ORPHA:110
HP:0025033	Abnormal digestive system morphology	80184	CEP290	ORPHA:110
HP:0025033	Abnormal digestive system morphology	11020	IFT27	ORPHA:110
HP:0025033	Abnormal digestive system morphology	582	BBS1	ORPHA:110
HP:0025033	Abnormal digestive system morphology	49855	SCAPER	ORPHA:110
HP:0025033	Abnormal digestive system morphology	4867	NPHP1	ORPHA:110
HP:0025033	Abnormal digestive system morphology	51057	WDPCP	ORPHA:110
HP:0025033	Abnormal digestive system morphology	132320	SCLT1	ORPHA:110
HP:0025033	Abnormal digestive system morphology	27241	BBS9	ORPHA:110
HP:0025033	Abnormal digestive system morphology	84984	CEP19	ORPHA:110
HP:0025033	Abnormal digestive system morphology	22954	TRIM32	ORPHA:110
HP:0025033	Abnormal digestive system morphology	79738	BBS10	ORPHA:110
HP:0025033	Abnormal digestive system morphology	123016	TTC8	ORPHA:110
HP:0025033	Abnormal digestive system morphology	26160	IFT172	ORPHA:110
HP:0025033	Abnormal digestive system morphology	583	BBS2	ORPHA:110
HP:0025033	Abnormal digestive system morphology	585	BBS4	ORPHA:110
HP:0025033	Abnormal digestive system morphology	54585	LZTFL1	ORPHA:110
HP:0025033	Abnormal digestive system morphology	55212	BBS7	ORPHA:110
HP:0025033	Abnormal digestive system morphology	166379	BBS12	ORPHA:110
HP:0025033	Abnormal digestive system morphology	10806	SDCCAG8	ORPHA:110
HP:0025033	Abnormal digestive system morphology	157657	CFAP418	ORPHA:110
HP:0025033	Abnormal digestive system morphology	84100	ARL6	ORPHA:110
HP:0025033	Abnormal digestive system morphology	129880	BBS5	ORPHA:110
HP:0025033	Abnormal digestive system morphology	80173	IFT74	ORPHA:110
HP:0025033	Abnormal digestive system morphology	51256	TBC1D7	OMIM:248000
HP:0025033	Abnormal digestive system morphology	2859	GPR35	ORPHA:171
HP:0025033	Abnormal digestive system morphology	10507	SEMA4D	ORPHA:171
HP:0025033	Abnormal digestive system morphology	4485	MST1	ORPHA:171
HP:0025033	Abnormal digestive system morphology	326	AIRE	OMIM:240300
HP:0025033	Abnormal digestive system morphology	8651	SOCS1	OMIM:619375
HP:0025033	Abnormal digestive system morphology	10625	IVNS1ABP	OMIM:618969
HP:0025033	Abnormal digestive system morphology	6777	STAT5B	OMIM:618985
HP:0025033	Abnormal digestive system morphology	3117	HLA-DQA1	OMIM:212750
HP:0025033	Abnormal digestive system morphology	3119	HLA-DQB1	OMIM:212750
HP:0025033	Abnormal digestive system morphology	10092	ARPC5	OMIM:620565
HP:0025033	Abnormal digestive system morphology	3514	IGKC	ORPHA:183675
HP:0025033	Abnormal digestive system morphology	3501	IGHG2	ORPHA:183675
HP:0025033	Abnormal digestive system morphology	29110	TBK1	OMIM:620880
HP:0025033	Abnormal digestive system morphology	10847	SRCAP	OMIM:136140
HP:0025033	Abnormal digestive system morphology	10847	SRCAP	ORPHA:2044
HP:0025033	Abnormal digestive system morphology	29998	BICRA	OMIM:619325
HP:0025033	Abnormal digestive system morphology	4953	ODC1	ORPHA:544488
HP:0025033	Abnormal digestive system morphology	51085	MLXIPL	OMIM:194050
HP:0025033	Abnormal digestive system morphology	11146	GLMN	ORPHA:83454
HP:0025033	Abnormal digestive system morphology	4763	NF1	OMIM:162200
HP:0025033	Abnormal digestive system morphology	716	C1S	OMIM:617174
HP:0025033	Abnormal digestive system morphology	8930	MBD4	OMIM:619975
HP:0025033	Abnormal digestive system morphology	4092	SMAD7	OMIM:612229
HP:0025033	Abnormal digestive system morphology	2304	FOXE1	ORPHA:319487
HP:0025033	Abnormal digestive system morphology	3026	HABP2	ORPHA:319487
HP:0025033	Abnormal digestive system morphology	9562	MINPP1	ORPHA:319487
HP:0025033	Abnormal digestive system morphology	1244	ABCC2	ORPHA:234
HP:0025033	Abnormal digestive system morphology	3930	LBR	ORPHA:779
HP:0025033	Abnormal digestive system morphology	9839	ZEB2	OMIM:235730
HP:0025033	Abnormal digestive system morphology	26873	OPLAH	OMIM:260005
HP:0025033	Abnormal digestive system morphology	5336	PLCG2	OMIM:614878
HP:0025033	Abnormal digestive system morphology	2984	GUCY2C	OMIM:614665
HP:0025033	Abnormal digestive system morphology	10269	ZMPSTE24	ORPHA:1662
HP:0025033	Abnormal digestive system morphology	3190	HNRNPK	ORPHA:453504
HP:0025033	Abnormal digestive system morphology	3190	HNRNPK	ORPHA:352665
HP:0025033	Abnormal digestive system morphology	4558	MT-TF	ORPHA:550
HP:0025033	Abnormal digestive system morphology	4572	MT-TQ	ORPHA:550
HP:0025033	Abnormal digestive system morphology	4512	MT-CO1	ORPHA:550
HP:0025033	Abnormal digestive system morphology	4513	MT-CO2	ORPHA:550
HP:0025033	Abnormal digestive system morphology	4514	MT-CO3	ORPHA:550
HP:0025033	Abnormal digestive system morphology	4578	MT-TW	ORPHA:550
HP:0025033	Abnormal digestive system morphology	4540	MT-ND5	ORPHA:550
HP:0025033	Abnormal digestive system morphology	4541	MT-ND6	ORPHA:550
HP:0025033	Abnormal digestive system morphology	4535	MT-ND1	ORPHA:550
HP:0025033	Abnormal digestive system morphology	4538	MT-ND4	ORPHA:550
HP:0025033	Abnormal digestive system morphology	4567	MT-TL1	ORPHA:550
HP:0025033	Abnormal digestive system morphology	4574	MT-TS1	ORPHA:550
HP:0025033	Abnormal digestive system morphology	4575	MT-TS2	ORPHA:550
HP:0025033	Abnormal digestive system morphology	4564	MT-TH	ORPHA:550
HP:0025033	Abnormal digestive system morphology	56652	TWNK	OMIM:607459
HP:0025033	Abnormal digestive system morphology	56652	TWNK	ORPHA:70595
HP:0025033	Abnormal digestive system morphology	5428	POLG	OMIM:607459
HP:0025033	Abnormal digestive system morphology	5428	POLG	OMIM:613662
HP:0025033	Abnormal digestive system morphology	5428	POLG	OMIM:603041
HP:0025033	Abnormal digestive system morphology	5428	POLG	ORPHA:70595
HP:0025033	Abnormal digestive system morphology	151648	SGO1	OMIM:616201
HP:0025033	Abnormal digestive system morphology	3423	IDS	OMIM:309900
HP:0025033	Abnormal digestive system morphology	3980	LIG3	OMIM:619780
HP:0025033	Abnormal digestive system morphology	285282	RABL3	ORPHA:1333
HP:0025033	Abnormal digestive system morphology	7157	TP53	ORPHA:1333
HP:0025033	Abnormal digestive system morphology	3845	KRAS	ORPHA:1333
HP:0025033	Abnormal digestive system morphology	1029	CDKN2A	ORPHA:1333
HP:0025033	Abnormal digestive system morphology	23022	PALLD	ORPHA:1333
HP:0025033	Abnormal digestive system morphology	1890	TYMP	OMIM:603041
HP:0025033	Abnormal digestive system morphology	10483	SEC23B	ORPHA:201
HP:0025033	Abnormal digestive system morphology	205717	USF3	ORPHA:201
HP:0025033	Abnormal digestive system morphology	100144748	KLLN	ORPHA:201
HP:0025033	Abnormal digestive system morphology	11277	TREX1	OMIM:225750
HP:0025033	Abnormal digestive system morphology	4437	MSH3	ORPHA:480536
HP:0025033	Abnormal digestive system morphology	64359	NXN	ORPHA:1507
HP:0025033	Abnormal digestive system morphology	4920	ROR2	ORPHA:1507
HP:0025033	Abnormal digestive system morphology	2313	FLI1	ORPHA:2308
HP:0025033	Abnormal digestive system morphology	79577	CDC73	ORPHA:143
HP:0025033	Abnormal digestive system morphology	79577	CDC73	ORPHA:99880
HP:0025033	Abnormal digestive system morphology	1175	AP2S1	OMIM:600740
HP:0025033	Abnormal digestive system morphology	493856	CISD2	OMIM:604928
HP:0025033	Abnormal digestive system morphology	2767	GNA11	OMIM:145981
HP:0025033	Abnormal digestive system morphology	54790	TET2	ORPHA:98849
HP:0025033	Abnormal digestive system morphology	6427	SRSF2	ORPHA:98849
HP:0025033	Abnormal digestive system morphology	3248	HPGD	ORPHA:2796
HP:0025033	Abnormal digestive system morphology	6578	SLCO2A1	ORPHA:2796
HP:0025033	Abnormal digestive system morphology	7020	TFAP2A	OMIM:113620
HP:0025033	Abnormal digestive system morphology	2317	FLNB	ORPHA:1190
HP:0025033	Abnormal digestive system morphology	51008	ASCC1	OMIM:614266
HP:0025033	Abnormal digestive system morphology	115908	CTHRC1	OMIM:614266
HP:0025033	Abnormal digestive system morphology	4481	MSR1	OMIM:614266
HP:0025033	Abnormal digestive system morphology	5321	PLA2G4A	OMIM:618372
HP:0025033	Abnormal digestive system morphology	29940	DSE	ORPHA:2953
HP:0025033	Abnormal digestive system morphology	54361	WNT4	ORPHA:139466
HP:0025033	Abnormal digestive system morphology	7468	NSD2	OMIM:194190
HP:0025033	Abnormal digestive system morphology	10815	CPLX1	OMIM:194190
HP:0025033	Abnormal digestive system morphology	1487	CTBP1	OMIM:194190
HP:0025033	Abnormal digestive system morphology	53834	FGFRL1	OMIM:194190
HP:0025033	Abnormal digestive system morphology	3954	LETM1	OMIM:194190
HP:0025033	Abnormal digestive system morphology	1723	DHODH	OMIM:263750
HP:0025033	Abnormal digestive system morphology	1499	CTNNB1	ORPHA:873
HP:0025033	Abnormal digestive system morphology	6392	SDHD	ORPHA:97286
HP:0025033	Abnormal digestive system morphology	1493	CTLA4	ORPHA:900
HP:0025033	Abnormal digestive system morphology	26191	PTPN22	ORPHA:900
HP:0025033	Abnormal digestive system morphology	3115	HLA-DPB1	ORPHA:900
HP:0025033	Abnormal digestive system morphology	5657	PRTN3	ORPHA:900
HP:0025033	Abnormal digestive system morphology	3113	HLA-DPA1	ORPHA:900
HP:0025033	Abnormal digestive system morphology	4598	MVK	ORPHA:343
HP:0025033	Abnormal digestive system morphology	2131	EXT1	ORPHA:321
HP:0025033	Abnormal digestive system morphology	4210	MEFV	ORPHA:342
HP:0025033	Abnormal digestive system morphology	4609	MYC	ORPHA:543
HP:0025033	Abnormal digestive system morphology	215	ABCD1	ORPHA:388
HP:0025033	Abnormal digestive system morphology	2668	GDNF	ORPHA:388
HP:0025033	Abnormal digestive system morphology	1889	ECE1	ORPHA:388
HP:0025033	Abnormal digestive system morphology	6720	SREBF1	ORPHA:388
HP:0025033	Abnormal digestive system morphology	223117	SEMA3D	ORPHA:388
HP:0025033	Abnormal digestive system morphology	10512	SEMA3C	ORPHA:388
HP:0025033	Abnormal digestive system morphology	2064	ERBB2	ORPHA:388
HP:0025033	Abnormal digestive system morphology	4902	NRTN	ORPHA:388
HP:0025033	Abnormal digestive system morphology	2068	ERCC2	OMIM:601675
HP:0025033	Abnormal digestive system morphology	3718	JAK3	OMIM:600802
HP:0025033	Abnormal digestive system morphology	64127	NOD2	OMIM:266600
HP:0025033	Abnormal digestive system morphology	3569	IL6	OMIM:266600
HP:0025033	Abnormal digestive system morphology	6905	TBCE	ORPHA:2323
HP:0025033	Abnormal digestive system morphology	7132	TNFRSF1A	ORPHA:32960
HP:0025033	Abnormal digestive system morphology	5317	PKP1	ORPHA:158668
HP:0025033	Abnormal digestive system morphology	2694	CBLIF	OMIM:261000
HP:0025033	Abnormal digestive system morphology	1289	COL5A1	OMIM:130000
HP:0025033	Abnormal digestive system morphology	3507	IGHM	OMIM:601495
HP:0025033	Abnormal digestive system morphology	3689	ITGB2	OMIM:116920
HP:0025033	Abnormal digestive system morphology	5880	RAC2	OMIM:608203
HP:0025033	Abnormal digestive system morphology	710	SERPING1	ORPHA:100050
HP:0025033	Abnormal digestive system morphology	710	SERPING1	OMIM:106100
HP:0025033	Abnormal digestive system morphology	2161	F12	OMIM:610618
HP:0025033	Abnormal digestive system morphology	331	XIAP	ORPHA:538934
HP:0025033	Abnormal digestive system morphology	4659	PPP1R12A	OMIM:618820
HP:0025033	Abnormal digestive system morphology	407975	MIR17HG	ORPHA:391646
HP:0025033	Abnormal digestive system morphology	8604	SLC25A12	OMIM:612949
HP:0025033	Abnormal digestive system morphology	55605	KIF21A	ORPHA:994
HP:0025033	Abnormal digestive system morphology	4927	NUP88	ORPHA:994
HP:0025033	Abnormal digestive system morphology	7846	TUBA1A	ORPHA:994
HP:0025033	Abnormal digestive system morphology	4654	MYOD1	ORPHA:994
HP:0025033	Abnormal digestive system morphology	54551	MAGEL2	ORPHA:994
HP:0025033	Abnormal digestive system morphology	4593	MUSK	ORPHA:994
HP:0025033	Abnormal digestive system morphology	5913	RAPSN	ORPHA:994
HP:0025033	Abnormal digestive system morphology	6572	SLC18A3	ORPHA:994
HP:0025033	Abnormal digestive system morphology	285489	DOK7	ORPHA:994
HP:0025033	Abnormal digestive system morphology	9652	SKIC3	ORPHA:84064
HP:0025033	Abnormal digestive system morphology	6499	SKIC2	ORPHA:84064
HP:0025033	Abnormal digestive system morphology	355	FAS	ORPHA:3261
HP:0025033	Abnormal digestive system morphology	356	FASLG	ORPHA:3261
HP:0025033	Abnormal digestive system morphology	843	CASP10	ORPHA:3261
HP:0025033	Abnormal digestive system morphology	2475	MTOR	ORPHA:457485
HP:0025033	Abnormal digestive system morphology	83550	GPR101	ORPHA:963
HP:0025033	Abnormal digestive system morphology	9049	AIP	ORPHA:963
HP:0025033	Abnormal digestive system morphology	4292	MLH1	ORPHA:144
HP:0025033	Abnormal digestive system morphology	5395	PMS2	ORPHA:144
HP:0025033	Abnormal digestive system morphology	7048	TGFBR2	ORPHA:144
HP:0025033	Abnormal digestive system morphology	5290	PIK3CA	ORPHA:144
HP:0025033	Abnormal digestive system morphology	5290	PIK3CA	OMIM:114500
HP:0025033	Abnormal digestive system morphology	2956	MSH6	ORPHA:144
HP:0025033	Abnormal digestive system morphology	5378	PMS1	ORPHA:144
HP:0025033	Abnormal digestive system morphology	4436	MSH2	ORPHA:144
HP:0025033	Abnormal digestive system morphology	699	BUB1	OMIM:114500
HP:0025033	Abnormal digestive system morphology	581	BAX	OMIM:114500
HP:0025033	Abnormal digestive system morphology	25788	RAD54B	OMIM:114500
HP:0025033	Abnormal digestive system morphology	5795	PTPRJ	OMIM:114500
HP:0025033	Abnormal digestive system morphology	5157	PDGFRL	OMIM:114500
HP:0025033	Abnormal digestive system morphology	1630	DCC	OMIM:114500
HP:0025033	Abnormal digestive system morphology	207	AKT1	OMIM:114500
HP:0025033	Abnormal digestive system morphology	10395	DLC1	OMIM:114500
HP:0025033	Abnormal digestive system morphology	8313	AXIN2	OMIM:114500
HP:0025033	Abnormal digestive system morphology	4163	MCC	OMIM:114500
HP:0025033	Abnormal digestive system morphology	2261	FGFR3	OMIM:114500
HP:0025033	Abnormal digestive system morphology	201163	FLCN	OMIM:114500
HP:0025033	Abnormal digestive system morphology	595	CCND1	OMIM:114500
HP:0025033	Abnormal digestive system morphology	7097	TLR2	OMIM:114500
HP:0025033	Abnormal digestive system morphology	6714	SRC	OMIM:114500
HP:0025033	Abnormal digestive system morphology	27030	MLH3	OMIM:114500
HP:0025033	Abnormal digestive system morphology	5320	PLA2G2A	OMIM:114500
HP:0025033	Abnormal digestive system morphology	6790	AURKA	OMIM:114500
HP:0025033	Abnormal digestive system morphology	4893	NRAS	OMIM:114500
HP:0025033	Abnormal digestive system morphology	701	BUB1B	OMIM:114500
HP:0025033	Abnormal digestive system morphology	5782	PTPN12	OMIM:114500
HP:0025033	Abnormal digestive system morphology	8314	BAP1	ORPHA:618
HP:0025033	Abnormal digestive system morphology	1019	CDK4	ORPHA:618
HP:0025033	Abnormal digestive system morphology	4255	MGMT	ORPHA:618
HP:0025033	Abnormal digestive system morphology	54386	TERF2IP	ORPHA:618
HP:0025033	Abnormal digestive system morphology	4157	MC1R	ORPHA:618
HP:0025033	Abnormal digestive system morphology	1030	CDKN2B	ORPHA:618
HP:0025033	Abnormal digestive system morphology	2000	ELF4	OMIM:301074
HP:0025033	Abnormal digestive system morphology	7040	TGFB1	OMIM:618213
HP:0025033	Abnormal digestive system morphology	4688	NCF2	OMIM:233710
HP:0025033	Abnormal digestive system morphology	79415	CYBC1	OMIM:618935
HP:0025033	Abnormal digestive system morphology	92579	G6PC3	OMIM:612541
HP:0025033	Abnormal digestive system morphology	3587	IL10RA	OMIM:613148
HP:0025033	Abnormal digestive system morphology	22806	IKZF3	OMIM:619437
HP:0025033	Abnormal digestive system morphology	4149	MAX	OMIM:620712
HP:0025033	Abnormal digestive system morphology	3588	IL10RB	OMIM:612567
HP:0025033	Abnormal digestive system morphology	8737	RIPK1	OMIM:618108
HP:0025033	Abnormal digestive system morphology	29927	SEC61A1	OMIM:620674
HP:0025033	Abnormal digestive system morphology	1991	ELANE	ORPHA:2686
HP:0025033	Abnormal digestive system morphology	29926	GMPPA	OMIM:615510
HP:0025033	Abnormal digestive system morphology	3655	ITGA6	OMIM:619817
HP:0025033	Abnormal digestive system morphology	65057	ACD	OMIM:616553
HP:0025033	Abnormal digestive system morphology	374879	ZNF699	OMIM:619488
HP:0025033	Abnormal digestive system morphology	6651	SON	OMIM:617140
HP:0025033	Abnormal digestive system morphology	11005	SPINK5	OMIM:256500
HP:0025033	Abnormal digestive system morphology	29925	GMPPB	OMIM:615351
HP:0025033	Abnormal digestive system morphology	6868	ADAM17	ORPHA:294023
HP:0025033	Abnormal digestive system morphology	1956	EGFR	ORPHA:294023
HP:0025033	Abnormal digestive system morphology	6049	RNF6	ORPHA:99977
HP:0025033	Abnormal digestive system morphology	6049	RNF6	OMIM:133239
HP:0025033	Abnormal digestive system morphology	51741	WWOX	ORPHA:99977
HP:0025033	Abnormal digestive system morphology	51741	WWOX	OMIM:133239
HP:0025033	Abnormal digestive system morphology	9940	DLEC1	ORPHA:99977
HP:0025033	Abnormal digestive system morphology	11178	LZTS1	OMIM:133239
HP:0025033	Abnormal digestive system morphology	6809	STX3	ORPHA:2290
HP:0025033	Abnormal digestive system morphology	5122	PCSK1	OMIM:600955
HP:0025033	Abnormal digestive system morphology	10043	TOM1	OMIM:619510
HP:0025033	Abnormal digestive system morphology	7482	WNT2B	OMIM:618168
HP:0025033	Abnormal digestive system morphology	79796	ALG9	OMIM:608776
HP:0025033	Abnormal digestive system morphology	79796	ALG9	ORPHA:79328
HP:0025033	Abnormal digestive system morphology	10195	ALG3	OMIM:601110
HP:0025033	Abnormal digestive system morphology	58484	NLRC4	OMIM:616050
HP:0025033	Abnormal digestive system morphology	3559	IL2RA	OMIM:606367
HP:0025033	Abnormal digestive system morphology	5373	PMM2	OMIM:212065
HP:0025033	Abnormal digestive system morphology	222546	RFX6	OMIM:615710
HP:0025033	Abnormal digestive system morphology	672	BRCA1	ORPHA:70567
HP:0025033	Abnormal digestive system morphology	675	BRCA2	ORPHA:70567
HP:0025033	Abnormal digestive system morphology	5774	PTPN3	ORPHA:70567
HP:0025033	Abnormal digestive system morphology	6098	ROS1	ORPHA:70567
HP:0025033	Abnormal digestive system morphology	80270	HSD3B7	OMIM:607765
HP:0025033	Abnormal digestive system morphology	9420	CYP7B1	OMIM:613812
HP:0025033	Abnormal digestive system morphology	51473	DCDC2	OMIM:617394
HP:0025033	Abnormal digestive system morphology	64218	SEMA4A	ORPHA:440437
HP:0025033	Abnormal digestive system morphology	472	ATM	ORPHA:440437
HP:0025033	Abnormal digestive system morphology	5426	POLE	ORPHA:440437
HP:0025033	Abnormal digestive system morphology	6224	RPS20	ORPHA:440437
HP:0025033	Abnormal digestive system morphology	4595	MUTYH	ORPHA:440437
HP:0025033	Abnormal digestive system morphology	4595	MUTYH	OMIM:613659
HP:0025033	Abnormal digestive system morphology	5424	POLD1	ORPHA:440437
HP:0025033	Abnormal digestive system morphology	11200	CHEK2	ORPHA:440437
HP:0025033	Abnormal digestive system morphology	11200	CHEK2	ORPHA:524
HP:0025033	Abnormal digestive system morphology	11200	CHEK2	OMIM:609265
HP:0025033	Abnormal digestive system morphology	3553	IL1B	OMIM:613659
HP:0025033	Abnormal digestive system morphology	3557	IL1RN	OMIM:613659
HP:0025033	Abnormal digestive system morphology	1316	KLF6	OMIM:613659
HP:0025033	Abnormal digestive system morphology	4193	MDM2	ORPHA:524
HP:0025033	Abnormal digestive system morphology	4312	MMP1	ORPHA:79408
HP:0025033	Abnormal digestive system morphology	51604	PIGT	ORPHA:369837
HP:0025033	Abnormal digestive system morphology	2260	FGFR1	ORPHA:220386
HP:0025033	Abnormal digestive system morphology	2260	FGFR1	ORPHA:93924
HP:0025033	Abnormal digestive system morphology	28514	DLL1	ORPHA:220386
HP:0025033	Abnormal digestive system morphology	28514	DLL1	ORPHA:93926
HP:0025033	Abnormal digestive system morphology	28514	DLL1	ORPHA:93924
HP:0025033	Abnormal digestive system morphology	28514	DLL1	ORPHA:93925
HP:0025033	Abnormal digestive system morphology	10735	STAG2	ORPHA:220386
HP:0025033	Abnormal digestive system morphology	10735	STAG2	ORPHA:93925
HP:0025033	Abnormal digestive system morphology	2253	FGF8	ORPHA:220386
HP:0025033	Abnormal digestive system morphology	2253	FGF8	ORPHA:93926
HP:0025033	Abnormal digestive system morphology	2253	FGF8	ORPHA:93924
HP:0025033	Abnormal digestive system morphology	2253	FGF8	ORPHA:93925
HP:0025033	Abnormal digestive system morphology	8243	SMC1A	ORPHA:220386
HP:0025033	Abnormal digestive system morphology	6496	SIX3	ORPHA:220386
HP:0025033	Abnormal digestive system morphology	6496	SIX3	ORPHA:93926
HP:0025033	Abnormal digestive system morphology	6496	SIX3	ORPHA:93924
HP:0025033	Abnormal digestive system morphology	6496	SIX3	ORPHA:93925
HP:0025033	Abnormal digestive system morphology	7050	TGIF1	ORPHA:220386
HP:0025033	Abnormal digestive system morphology	7050	TGIF1	ORPHA:93926
HP:0025033	Abnormal digestive system morphology	7050	TGIF1	ORPHA:93924
HP:0025033	Abnormal digestive system morphology	7050	TGIF1	ORPHA:93925
HP:0025033	Abnormal digestive system morphology	4838	NODAL	ORPHA:220386
HP:0025033	Abnormal digestive system morphology	4838	NODAL	ORPHA:93926
HP:0025033	Abnormal digestive system morphology	4838	NODAL	ORPHA:93924
HP:0025033	Abnormal digestive system morphology	4838	NODAL	ORPHA:93925
HP:0025033	Abnormal digestive system morphology	6469	SHH	ORPHA:220386
HP:0025033	Abnormal digestive system morphology	6469	SHH	ORPHA:93926
HP:0025033	Abnormal digestive system morphology	6469	SHH	ORPHA:93924
HP:0025033	Abnormal digestive system morphology	6469	SHH	ORPHA:93925
HP:0025033	Abnormal digestive system morphology	7546	ZIC2	ORPHA:220386
HP:0025033	Abnormal digestive system morphology	7546	ZIC2	ORPHA:93926
HP:0025033	Abnormal digestive system morphology	7546	ZIC2	ORPHA:93924
HP:0025033	Abnormal digestive system morphology	7546	ZIC2	ORPHA:93925
HP:0025033	Abnormal digestive system morphology	6491	STIL	ORPHA:220386
HP:0025033	Abnormal digestive system morphology	6491	STIL	ORPHA:93926
HP:0025033	Abnormal digestive system morphology	6491	STIL	ORPHA:93924
HP:0025033	Abnormal digestive system morphology	6491	STIL	ORPHA:93925
HP:0025033	Abnormal digestive system morphology	2619	GAS1	ORPHA:220386
HP:0025033	Abnormal digestive system morphology	2619	GAS1	ORPHA:93926
HP:0025033	Abnormal digestive system morphology	2619	GAS1	ORPHA:93924
HP:0025033	Abnormal digestive system morphology	2619	GAS1	ORPHA:93925
HP:0025033	Abnormal digestive system morphology	84976	DISP1	ORPHA:220386
HP:0025033	Abnormal digestive system morphology	84976	DISP1	ORPHA:93926
HP:0025033	Abnormal digestive system morphology	84976	DISP1	ORPHA:93924
HP:0025033	Abnormal digestive system morphology	84976	DISP1	ORPHA:93925
HP:0025033	Abnormal digestive system morphology	2736	GLI2	ORPHA:220386
HP:0025033	Abnormal digestive system morphology	2736	GLI2	ORPHA:93926
HP:0025033	Abnormal digestive system morphology	2736	GLI2	ORPHA:93924
HP:0025033	Abnormal digestive system morphology	2736	GLI2	ORPHA:93925
HP:0025033	Abnormal digestive system morphology	8928	FOXH1	ORPHA:220386
HP:0025033	Abnormal digestive system morphology	8928	FOXH1	ORPHA:93926
HP:0025033	Abnormal digestive system morphology	8928	FOXH1	ORPHA:93924
HP:0025033	Abnormal digestive system morphology	8928	FOXH1	ORPHA:93925
HP:0025033	Abnormal digestive system morphology	6997	CRIPTO	ORPHA:220386
HP:0025033	Abnormal digestive system morphology	6997	CRIPTO	ORPHA:93926
HP:0025033	Abnormal digestive system morphology	6997	CRIPTO	ORPHA:93924
HP:0025033	Abnormal digestive system morphology	6997	CRIPTO	ORPHA:93925
HP:0025033	Abnormal digestive system morphology	5727	PTCH1	ORPHA:220386
HP:0025033	Abnormal digestive system morphology	5727	PTCH1	ORPHA:93926
HP:0025033	Abnormal digestive system morphology	5727	PTCH1	ORPHA:93924
HP:0025033	Abnormal digestive system morphology	5727	PTCH1	ORPHA:93925
HP:0025033	Abnormal digestive system morphology	50937	CDON	ORPHA:220386
HP:0025033	Abnormal digestive system morphology	50937	CDON	ORPHA:93926
HP:0025033	Abnormal digestive system morphology	50937	CDON	ORPHA:93924
HP:0025033	Abnormal digestive system morphology	50937	CDON	ORPHA:93925
HP:0025033	Abnormal digestive system morphology	4010	LMX1B	ORPHA:2614
HP:0025033	Abnormal digestive system morphology	23007	PLCH1	ORPHA:93925
HP:0025033	Abnormal digestive system morphology	4621	MYH3	ORPHA:2990
HP:0025033	Abnormal digestive system morphology	1146	CHRNG	ORPHA:2990
HP:0025033	Abnormal digestive system morphology	1288	COL4A6	ORPHA:1018
HP:0025033	Abnormal digestive system morphology	1287	COL4A5	ORPHA:1018
HP:0025033	Abnormal digestive system morphology	55209	SETD5	ORPHA:404440
HP:0025033	Abnormal digestive system morphology	57167	SALL4	ORPHA:233
HP:0025033	Abnormal digestive system morphology	9935	MAFB	ORPHA:233
HP:0025033	Abnormal digestive system morphology	1123	CHN1	ORPHA:233
HP:0025033	Abnormal digestive system morphology	341640	FREM2	ORPHA:2052
HP:0025033	Abnormal digestive system morphology	80144	FRAS1	ORPHA:2052
HP:0025033	Abnormal digestive system morphology	23426	GRIP1	ORPHA:2052
HP:0025033	Abnormal digestive system morphology	80169	CTC1	ORPHA:1775
HP:0025033	Abnormal digestive system morphology	26277	TINF2	ORPHA:1775
HP:0025033	Abnormal digestive system morphology	55651	NHP2	ORPHA:1775
HP:0025033	Abnormal digestive system morphology	79650	USB1	ORPHA:1775
HP:0025033	Abnormal digestive system morphology	55135	WRAP53	ORPHA:1775
HP:0025033	Abnormal digestive system morphology	51750	RTEL1	ORPHA:1775
HP:0025033	Abnormal digestive system morphology	4869	NPM1	ORPHA:1775
HP:0025033	Abnormal digestive system morphology	7012	TERC	ORPHA:1775
HP:0025033	Abnormal digestive system morphology	55505	NOP10	ORPHA:1775
HP:0025033	Abnormal digestive system morphology	5073	PARN	ORPHA:1775
HP:0025033	Abnormal digestive system morphology	7015	TERT	ORPHA:1775
HP:0025033	Abnormal digestive system morphology	1736	DKC1	ORPHA:1775
HP:0025033	Abnormal digestive system morphology	7298	TYMS	ORPHA:1775
HP:0025033	Abnormal digestive system morphology	8085	KMT2D	ORPHA:2322
HP:0025033	Abnormal digestive system morphology	7403	KDM6A	ORPHA:2322
HP:0025033	Abnormal digestive system morphology	4683	NBN	ORPHA:647
HP:0025033	Abnormal digestive system morphology	1312	COMT	ORPHA:567
HP:0025033	Abnormal digestive system morphology	221037	JMJD1C	ORPHA:567
HP:0025033	Abnormal digestive system morphology	2812	GP1BB	ORPHA:567
HP:0025033	Abnormal digestive system morphology	6239	RREB1	ORPHA:567
HP:0025033	Abnormal digestive system morphology	6899	TBX1	ORPHA:567
HP:0025033	Abnormal digestive system morphology	7290	HIRA	ORPHA:567
HP:0025033	Abnormal digestive system morphology	9632	SEC24C	ORPHA:567
HP:0025033	Abnormal digestive system morphology	7353	UFD1	ORPHA:567
HP:0025033	Abnormal digestive system morphology	421	ARVCF	ORPHA:567
HP:0025033	Abnormal digestive system morphology	3239	HOXD13	ORPHA:887
HP:0025033	Abnormal digestive system morphology	55593	OTUD5	OMIM:301056
HP:0025033	Abnormal digestive system morphology	7276	TTR	ORPHA:85451
HP:0025033	Abnormal digestive system morphology	3938	LCT	OMIM:223000
HP:0025033	Abnormal digestive system morphology	4175	MCM6	OMIM:223100
HP:0025033	Abnormal digestive system morphology	50484	RRM2B	ORPHA:298
HP:0025033	Abnormal digestive system morphology	5265	SERPINA1	OMIM:613490
HP:0025033	Abnormal digestive system morphology	715	C1R	OMIM:130080
HP:0025033	Abnormal digestive system morphology	567	B2M	ORPHA:314652
HP:0025033	Abnormal digestive system morphology	84433	CARD11	OMIM:617638
HP:0025033	Abnormal digestive system morphology	3716	JAK1	OMIM:618999
HP:0025033	Abnormal digestive system morphology	10095	ARPC1B	OMIM:617718
HP:0025033	Abnormal digestive system morphology	7128	TNFAIP3	OMIM:616744
HP:0025033	Abnormal digestive system morphology	6778	STAT6	OMIM:620532
HP:0025033	Abnormal digestive system morphology	220296	HEPACAM	ORPHA:210548
HP:0025033	Abnormal digestive system morphology	6550	SLC9A3	OMIM:616868
HP:0025033	Abnormal digestive system morphology	139818	DOCK11	OMIM:301109
HP:0025033	Abnormal digestive system morphology	5970	RELA	OMIM:618287
HP:0025033	Abnormal digestive system morphology	7389	UROD	ORPHA:95159
HP:0025033	Abnormal digestive system morphology	7390	UROS	OMIM:263700
HP:0025033	Abnormal digestive system morphology	7390	UROS	ORPHA:79277
HP:0025033	Abnormal digestive system morphology	2623	GATA1	ORPHA:79277
HP:0025033	Abnormal digestive system morphology	210	ALAD	ORPHA:100924
HP:0025033	Abnormal digestive system morphology	6730	SRP68	OMIM:620534
HP:0025033	Abnormal digestive system morphology	8547	FCN3	OMIM:613860
HP:0025033	Abnormal digestive system morphology	55898	UNC45A	OMIM:619377
HP:0025033	Abnormal digestive system morphology	6555	SLC10A2	OMIM:613291
HP:0025033	Abnormal digestive system morphology	50619	DEF6	OMIM:619573
HP:0025033	Abnormal digestive system morphology	5498	PPOX	OMIM:176200
HP:0025033	Abnormal digestive system morphology	5498	PPOX	OMIM:620483
HP:0025033	Abnormal digestive system morphology	1811	SLC26A3	OMIM:214700
HP:0025033	Abnormal digestive system morphology	1371	CPOX	OMIM:121300
HP:0025033	Abnormal digestive system morphology	51128	SAR1B	OMIM:246700
HP:0025033	Abnormal digestive system morphology	6138	RPL15	ORPHA:124
HP:0025033	Abnormal digestive system morphology	6165	RPL35A	ORPHA:124
HP:0025033	Abnormal digestive system morphology	6132	RPL8	ORPHA:124
HP:0025033	Abnormal digestive system morphology	6223	RPS19	ORPHA:124
HP:0025033	Abnormal digestive system morphology	6232	RPS27	ORPHA:124
HP:0025033	Abnormal digestive system morphology	55027	HEATR3	ORPHA:124
HP:0025033	Abnormal digestive system morphology	6160	RPL31	ORPHA:124
HP:0025033	Abnormal digestive system morphology	6201	RPS7	ORPHA:124
HP:0025033	Abnormal digestive system morphology	6155	RPL27	ORPHA:124
HP:0025033	Abnormal digestive system morphology	6234	RPS28	ORPHA:124
HP:0025033	Abnormal digestive system morphology	6229	RPS24	ORPHA:124
HP:0025033	Abnormal digestive system morphology	6125	RPL5	ORPHA:124
HP:0025033	Abnormal digestive system morphology	6204	RPS10	ORPHA:124
HP:0025033	Abnormal digestive system morphology	6133	RPL9	ORPHA:124
HP:0025033	Abnormal digestive system morphology	6231	RPS26	ORPHA:124
HP:0025033	Abnormal digestive system morphology	11224	RPL35	ORPHA:124
HP:0025033	Abnormal digestive system morphology	6218	RPS17	ORPHA:124
HP:0025033	Abnormal digestive system morphology	6154	RPL26	ORPHA:124
HP:0025033	Abnormal digestive system morphology	6210	RPS15A	ORPHA:124
HP:0025033	Abnormal digestive system morphology	90121	TSR2	ORPHA:124
HP:0025033	Abnormal digestive system morphology	6141	RPL18	ORPHA:124
HP:0025033	Abnormal digestive system morphology	6235	RPS29	ORPHA:124
HP:0025033	Abnormal digestive system morphology	8379	MAD1L1	OMIM:620189
HP:0025033	Abnormal digestive system morphology	8915	BCL10	OMIM:137245
HP:0025033	Abnormal digestive system morphology	55765	INAVA	OMIM:618077
HP:0025033	Abnormal digestive system morphology	10747	MASP2	OMIM:613791
HP:0025033	Abnormal digestive system morphology	27178	IL37	OMIM:619398
HP:0025033	Abnormal digestive system morphology	1794	DOCK2	OMIM:616433
HP:0025033	Abnormal digestive system morphology	4629	MYH11	OMIM:619350
HP:0025033	Abnormal digestive system morphology	538	ATP7A	ORPHA:198
HP:0025033	Abnormal digestive system morphology	5966	REL	OMIM:619652
HP:0025033	Abnormal digestive system morphology	4221	MEN1	OMIM:131100
HP:0025033	Abnormal digestive system morphology	6135	RPL11	OMIM:612562
HP:0025033	Abnormal digestive system morphology	60684	TRAPPC11	OMIM:615356
HP:0025033	Abnormal digestive system morphology	5238	PGM3	ORPHA:443811
HP:0025033	Abnormal digestive system morphology	3376	IARS1	ORPHA:541423
HP:0025033	Abnormal digestive system morphology	81031	SLC2A10	ORPHA:3342
HP:0025033	Abnormal digestive system morphology	9719	ADAMTSL2	ORPHA:1901
HP:0025033	Abnormal digestive system morphology	9509	ADAMTS2	ORPHA:1901
HP:0025033	Abnormal digestive system morphology	6925	TCF4	ORPHA:2896
HP:0025033	Abnormal digestive system morphology	2887	GRB10	ORPHA:96182
HP:0025033	Abnormal digestive system morphology	2743	GLRB	ORPHA:3197
HP:0025033	Abnormal digestive system morphology	2741	GLRA1	ORPHA:3197
HP:0025033	Abnormal digestive system morphology	10243	GPHN	ORPHA:3197
HP:0025033	Abnormal digestive system morphology	84896	ATAD1	ORPHA:3197
HP:0025033	Abnormal digestive system morphology	9152	SLC6A5	ORPHA:3197
HP:0025033	Abnormal digestive system morphology	146206	CARMIL2	OMIM:618131
HP:0025033	Abnormal digestive system morphology	7543	ZFX	OMIM:301118
HP:0025033	Abnormal digestive system morphology	6812	STXBP1	ORPHA:495818
HP:0025033	Abnormal digestive system morphology	5723	PSPH	ORPHA:79350
HP:0025033	Abnormal digestive system morphology	26227	PHGDH	ORPHA:79351
HP:0025033	Abnormal digestive system morphology	1027	CDKN1B	ORPHA:276152
HP:0025033	Abnormal digestive system morphology	4913	NTHL1	ORPHA:454840
HP:0025033	Abnormal digestive system morphology	641	BLM	ORPHA:125
HP:0025033	Abnormal digestive system morphology	6794	STK11	ORPHA:2869
HP:0025033	Abnormal digestive system morphology	79651	RHBDF2	ORPHA:2198
HP:0025033	Abnormal digestive system morphology	2271	FH	ORPHA:523
HP:0025033	Abnormal digestive system morphology	6389	SDHA	ORPHA:44890
HP:0025033	Abnormal digestive system morphology	6390	SDHB	ORPHA:44890
HP:0025033	Abnormal digestive system morphology	6391	SDHC	ORPHA:44890
HP:0025033	Abnormal digestive system morphology	5156	PDGFRA	ORPHA:44890
HP:0025033	Abnormal digestive system morphology	3815	KIT	ORPHA:44890
HP:0025033	Abnormal digestive system morphology	5573	PRKAR1A	ORPHA:1359
HP:0025033	Abnormal digestive system morphology	50940	PDE11A	ORPHA:1359
HP:0025033	Abnormal digestive system morphology	7373	COL14A1	ORPHA:79501
HP:0025033	Abnormal digestive system morphology	79719	AAGAB	ORPHA:79501
HP:0025033	Abnormal digestive system morphology	54894	RNF43	ORPHA:157798
HP:0025033	Abnormal digestive system morphology	64220	STRA6	ORPHA:2470
HP:0025033	Abnormal digestive system morphology	7477	WNT7B	ORPHA:2470
HP:0025033	Abnormal digestive system morphology	9184	BUB3	ORPHA:1052
HP:0025033	Abnormal digestive system morphology	9702	CEP57	ORPHA:1052
HP:0025033	Abnormal digestive system morphology	9319	TRIP13	ORPHA:1052
HP:0025033	Abnormal digestive system morphology	2778	GNAS	OMIM:174800
HP:0025033	Abnormal digestive system morphology	9817	KEAP1	ORPHA:276399
HP:0025033	Abnormal digestive system morphology	23405	DICER1	ORPHA:276399
HP:0025033	Abnormal digestive system morphology	4088	SMAD3	OMIM:613795
HP:0025033	Abnormal digestive system morphology	7046	TGFBR1	OMIM:609192
HP:0025033	Abnormal digestive system morphology	81704	DOCK8	OMIM:243700
HP:0025033	Abnormal digestive system morphology	1828	DSG1	OMIM:615508
HP:0025033	Abnormal digestive system morphology	7042	TGFB2	OMIM:614816
HP:0025035	Abnormal proerythroblast morphology	9493	KIF23	ORPHA:98870
HP:0025035	Abnormal proerythroblast morphology	29127	RACGAP1	ORPHA:98870
HP:0012751	Abnormal basal ganglia MRI signal intensity	435	ASL	ORPHA:23
HP:0012751	Abnormal basal ganglia MRI signal intensity	5621	PRNP	ORPHA:282166
HP:0012751	Abnormal basal ganglia MRI signal intensity	51204	TACO1	OMIM:619052
HP:0012751	Abnormal basal ganglia MRI signal intensity	4535	MT-ND1	ORPHA:255210
HP:0012751	Abnormal basal ganglia MRI signal intensity	4536	MT-ND2	ORPHA:255210
HP:0012751	Abnormal basal ganglia MRI signal intensity	4537	MT-ND3	ORPHA:255210
HP:0012751	Abnormal basal ganglia MRI signal intensity	4538	MT-ND4	ORPHA:255210
HP:0012751	Abnormal basal ganglia MRI signal intensity	4567	MT-TL1	ORPHA:255210
HP:0012751	Abnormal basal ganglia MRI signal intensity	4578	MT-TW	ORPHA:255210
HP:0012751	Abnormal basal ganglia MRI signal intensity	4577	MT-TV	ORPHA:255210
HP:0012751	Abnormal basal ganglia MRI signal intensity	4540	MT-ND5	ORPHA:255210
HP:0012751	Abnormal basal ganglia MRI signal intensity	4541	MT-ND6	ORPHA:255210
HP:0012751	Abnormal basal ganglia MRI signal intensity	4566	MT-TK	ORPHA:255210
HP:0012751	Abnormal basal ganglia MRI signal intensity	9997	SCO2	OMIM:604377
HP:0012751	Abnormal basal ganglia MRI signal intensity	4724	NDUFS4	OMIM:252010
HP:0012751	Abnormal basal ganglia MRI signal intensity	80208	SPG11	ORPHA:2822
HP:0012751	Abnormal basal ganglia MRI signal intensity	2670	GFAP	ORPHA:363717
HP:0012751	Abnormal basal ganglia MRI signal intensity	57107	PDSS2	OMIM:614652
HP:0012751	Abnormal basal ganglia MRI signal intensity	4719	NDUFS1	OMIM:618226
HP:0012751	Abnormal basal ganglia MRI signal intensity	10128	LRPPRC	ORPHA:70472
HP:0012751	Abnormal basal ganglia MRI signal intensity	85365	ALG2	ORPHA:79326
HP:0012751	Abnormal basal ganglia MRI signal intensity	23474	ETHE1	ORPHA:51188
HP:0012751	Abnormal basal ganglia MRI signal intensity	22	ABCB7	OMIM:301310
HP:0012751	Abnormal basal ganglia MRI signal intensity	2737	GLI3	ORPHA:672
HP:0012751	Abnormal basal ganglia MRI signal intensity	10367	MICU1	ORPHA:401768
HP:0012751	Abnormal basal ganglia MRI signal intensity	8802	SUCLG1	ORPHA:17
HP:0012751	Abnormal basal ganglia MRI signal intensity	55532	SLC30A10	ORPHA:309854
HP:0012751	Abnormal basal ganglia MRI signal intensity	443	ASPA	ORPHA:314918
HP:0012751	Abnormal basal ganglia MRI signal intensity	56947	MFF	ORPHA:485421
HP:0012751	Abnormal basal ganglia MRI signal intensity	133686	NADK2	ORPHA:431361
HP:0012751	Abnormal basal ganglia MRI signal intensity	54148	MRPL39	OMIM:620646
HP:0012751	Abnormal basal ganglia MRI signal intensity	22868	FASTKD2	OMIM:618855
HP:0012751	Abnormal basal ganglia MRI signal intensity	4508	MT-ATP6	ORPHA:644
HP:0012751	Abnormal basal ganglia MRI signal intensity	84705	GTPBP3	ORPHA:444013
HP:0012751	Abnormal basal ganglia MRI signal intensity	56997	COQ8A	ORPHA:139485
HP:0012751	Abnormal basal ganglia MRI signal intensity	2639	GCDH	ORPHA:25
HP:0012751	Abnormal basal ganglia MRI signal intensity	55823	VPS11	OMIM:619637
HP:0012751	Abnormal basal ganglia MRI signal intensity	2720	GLB1	ORPHA:79255
HP:0012751	Abnormal basal ganglia MRI signal intensity	10846	PDE10A	ORPHA:494541
HP:0012751	Abnormal basal ganglia MRI signal intensity	51102	MECR	ORPHA:508093
HP:0012757	Abnormal neuron morphology	57679	ALS2	OMIM:205100
HP:0012757	Abnormal neuron morphology	57679	ALS2	OMIM:606353
HP:0012757	Abnormal neuron morphology	57679	ALS2	ORPHA:247604
HP:0012757	Abnormal neuron morphology	10908	PNPLA6	OMIM:215470
HP:0012757	Abnormal neuron morphology	9782	MATR3	OMIM:606070
HP:0012757	Abnormal neuron morphology	2632	GBE1	OMIM:263570
HP:0012757	Abnormal neuron morphology	6687	SPG7	ORPHA:35689
HP:0012757	Abnormal neuron morphology	2521	FUS	ORPHA:275872
HP:0012757	Abnormal neuron morphology	8878	SQSTM1	ORPHA:275872
HP:0012757	Abnormal neuron morphology	23435	TARDBP	ORPHA:275872
HP:0012757	Abnormal neuron morphology	29110	TBK1	ORPHA:275872
HP:0012757	Abnormal neuron morphology	400916	CHCHD10	ORPHA:275872
HP:0012757	Abnormal neuron morphology	11160	ERLIN2	ORPHA:247604
HP:0012757	Abnormal neuron morphology	7305	TYROBP	OMIM:221770
HP:0012757	Abnormal neuron morphology	5832	ALDH18A1	OMIM:601162
HP:0012757	Abnormal neuron morphology	23064	SETX	OMIM:602433
HP:0012757	Abnormal neuron morphology	427	ASAH1	ORPHA:2590
HP:0012757	Abnormal neuron morphology	83636	C19orf12	OMIM:614298
HP:0012757	Abnormal neuron morphology	57449	PLEKHG5	OMIM:611067
HP:0012757	Abnormal neuron morphology	1639	DCTN1	OMIM:607641
HP:0012757	Abnormal neuron morphology	4287	ATXN3	ORPHA:276244
HP:0012757	Abnormal neuron morphology	54822	TRPM7	OMIM:105500
HP:0012757	Abnormal neuron morphology	80208	SPG11	OMIM:602099
HP:0012757	Abnormal neuron morphology	203228	C9orf72	OMIM:105550
HP:0012757	Abnormal neuron morphology	55187	VPS13D	ORPHA:95434
HP:0012757	Abnormal neuron morphology	27072	VPS41	ORPHA:95434
HP:0012757	Abnormal neuron morphology	25978	CHMP2B	ORPHA:100070
HP:0012757	Abnormal neuron morphology	5663	PSEN1	ORPHA:100070
HP:0012757	Abnormal neuron morphology	2896	GRN	ORPHA:100070
HP:0012757	Abnormal neuron morphology	54664	TMEM106B	ORPHA:100070
HP:0012757	Abnormal neuron morphology	4137	MAPT	ORPHA:100070
HP:0012757	Abnormal neuron morphology	54209	TREM2	ORPHA:100070
HP:0012757	Abnormal neuron morphology	65250	CPLANE1	ORPHA:65684
HP:0012757	Abnormal neuron morphology	57562	CEP126	ORPHA:65684
HP:0012757	Abnormal neuron morphology	6606	SMN1	OMIM:253550
HP:0012757	Abnormal neuron morphology	6606	SMN1	OMIM:271150
HP:0012757	Abnormal neuron morphology	6606	SMN1	OMIM:253400
HP:0012757	Abnormal neuron morphology	11340	EXOSC8	ORPHA:2254
HP:0012757	Abnormal neuron morphology	5393	EXOSC9	ORPHA:2254
HP:0012757	Abnormal neuron morphology	23287	AGTPBP1	ORPHA:2254
HP:0012757	Abnormal neuron morphology	51010	EXOSC3	ORPHA:2254
HP:0012757	Abnormal neuron morphology	7443	VRK1	ORPHA:2254
HP:0012757	Abnormal neuron morphology	7443	VRK1	OMIM:607596
HP:0012757	Abnormal neuron morphology	91137	SLC25A46	ORPHA:2254
HP:0012757	Abnormal neuron morphology	10342	TFG	OMIM:604484
HP:0012757	Abnormal neuron morphology	3508	IGHMBP2	OMIM:604320
HP:0012757	Abnormal neuron morphology	6607	SMN2	OMIM:253400
HP:0012757	Abnormal neuron morphology	3178	HNRNPA1	ORPHA:52430
HP:0012757	Abnormal neuron morphology	7415	VCP	ORPHA:52430
HP:0012757	Abnormal neuron morphology	3181	HNRNPA2B1	ORPHA:52430
HP:0012757	Abnormal neuron morphology	2733	GLE1	OMIM:611890
HP:0012757	Abnormal neuron morphology	7317	UBA1	ORPHA:1145
HP:0012757	Abnormal neuron morphology	1540	CYLD	OMIM:619132
HP:0012757	Abnormal neuron morphology	7072	TIA1	OMIM:619133
HP:0012757	Abnormal neuron morphology	7277	TUBA4A	OMIM:616208
HP:0012757	Abnormal neuron morphology	10280	SIGMAR1	ORPHA:300605
HP:0012757	Abnormal neuron morphology	10280	SIGMAR1	OMIM:614373
HP:0012757	Abnormal neuron morphology	10558	SPTLC1	ORPHA:300605
HP:0012757	Abnormal neuron morphology	3798	KIF5A	OMIM:617921
HP:0012757	Abnormal neuron morphology	55131	RBM28	ORPHA:157954
HP:0012757	Abnormal neuron morphology	8148	TAF15	ORPHA:803
HP:0012757	Abnormal neuron morphology	5445	PON2	ORPHA:803
HP:0012757	Abnormal neuron morphology	9217	VAPB	ORPHA:803
HP:0012757	Abnormal neuron morphology	5630	PRPH	ORPHA:803
HP:0012757	Abnormal neuron morphology	55830	GLT8D1	ORPHA:803
HP:0012757	Abnormal neuron morphology	755	CFAP410	ORPHA:803
HP:0012757	Abnormal neuron morphology	10891	PPARGC1A	ORPHA:803
HP:0012757	Abnormal neuron morphology	6647	SOD1	ORPHA:803
HP:0012757	Abnormal neuron morphology	10133	OPTN	ORPHA:803
HP:0012757	Abnormal neuron morphology	9896	FIG4	ORPHA:803
HP:0012757	Abnormal neuron morphology	5444	PON1	ORPHA:803
HP:0012757	Abnormal neuron morphology	5446	PON3	ORPHA:803
HP:0012757	Abnormal neuron morphology	4744	NEFH	ORPHA:803
HP:0012757	Abnormal neuron morphology	5216	PFN1	ORPHA:803
HP:0012757	Abnormal neuron morphology	283	ANG	ORPHA:803
HP:0012757	Abnormal neuron morphology	29978	UBQLN2	ORPHA:803
HP:0012757	Abnormal neuron morphology	4750	NEK1	ORPHA:803
HP:0012757	Abnormal neuron morphology	6311	ATXN2	ORPHA:803
HP:0012757	Abnormal neuron morphology	1610	DAO	ORPHA:803
HP:0012757	Abnormal neuron morphology	2066	ERBB4	ORPHA:803
HP:0012757	Abnormal neuron morphology	311	ANXA11	ORPHA:803
HP:0012757	Abnormal neuron morphology	23025	UNC13A	ORPHA:803
HP:0012757	Abnormal neuron morphology	899	CCNF	ORPHA:803
HP:0012757	Abnormal neuron morphology	5290	PIK3CA	ORPHA:99802
HP:0012757	Abnormal neuron morphology	2475	MTOR	ORPHA:99802
HP:0012757	Abnormal neuron morphology	10000	AKT3	ORPHA:99802
HP:0012757	Abnormal neuron morphology	26047	CNTNAP2	ORPHA:163681
HP:0012757	Abnormal neuron morphology	63925	ZNF335	ORPHA:329228
HP:0012757	Abnormal neuron morphology	5575	PRKAR1B	ORPHA:412066
HP:0012757	Abnormal neuron morphology	55165	CEP55	OMIM:236500
HP:0012757	Abnormal neuron morphology	5274	SERPINI1	OMIM:604218
HP:0012758	Neurodevelopmental delay	23394	ADNP	ORPHA:404448
HP:0012758	Neurodevelopmental delay	55703	POLR3B	OMIM:614381
HP:0012758	Neurodevelopmental delay	55703	POLR3B	OMIM:619742
HP:0012758	Neurodevelopmental delay	51256	TBC1D7	OMIM:248000
HP:0012758	Neurodevelopmental delay	340533	NEXMIF	OMIM:300912
HP:0012758	Neurodevelopmental delay	340533	NEXMIF	ORPHA:1942
HP:0012758	Neurodevelopmental delay	23135	KDM6B	OMIM:618505
HP:0012758	Neurodevelopmental delay	6659	SOX4	OMIM:618506
HP:0012758	Neurodevelopmental delay	84334	COA8	ORPHA:436271
HP:0012758	Neurodevelopmental delay	84334	COA8	OMIM:619061
HP:0012758	Neurodevelopmental delay	81570	CLPB	OMIM:619835
HP:0012758	Neurodevelopmental delay	5457	POU4F1	ORPHA:314647
HP:0012758	Neurodevelopmental delay	23261	CAMTA1	ORPHA:314647
HP:0012758	Neurodevelopmental delay	23261	CAMTA1	OMIM:614756
HP:0012758	Neurodevelopmental delay	10159	ATP6AP2	ORPHA:93952
HP:0012758	Neurodevelopmental delay	10159	ATP6AP2	OMIM:300423
HP:0012758	Neurodevelopmental delay	55209	SETD5	ORPHA:404440
HP:0012758	Neurodevelopmental delay	55209	SETD5	OMIM:615761
HP:0012758	Neurodevelopmental delay	4125	MAN2B1	ORPHA:309282
HP:0012758	Neurodevelopmental delay	4125	MAN2B1	ORPHA:309288
HP:0012758	Neurodevelopmental delay	10743	RAI1	ORPHA:477817
HP:0012758	Neurodevelopmental delay	10743	RAI1	ORPHA:819
HP:0012758	Neurodevelopmental delay	10743	RAI1	OMIM:182290
HP:0012758	Neurodevelopmental delay	24137	KIF4A	OMIM:300923
HP:0012758	Neurodevelopmental delay	80816	ASXL3	OMIM:615485
HP:0012758	Neurodevelopmental delay	57589	RIC1	ORPHA:199306
HP:0012758	Neurodevelopmental delay	5818	NECTIN1	ORPHA:199306
HP:0012758	Neurodevelopmental delay	1739	DLG1	ORPHA:199306
HP:0012758	Neurodevelopmental delay	999	CDH1	ORPHA:199306
HP:0012758	Neurodevelopmental delay	5156	PDGFRA	ORPHA:199306
HP:0012758	Neurodevelopmental delay	3664	IRF6	ORPHA:199306
HP:0012758	Neurodevelopmental delay	1748	DLX4	ORPHA:199306
HP:0012758	Neurodevelopmental delay	4487	MSX1	ORPHA:199306
HP:0012758	Neurodevelopmental delay	652	BMP4	ORPHA:199306
HP:0012758	Neurodevelopmental delay	8626	TP63	ORPHA:199306
HP:0012758	Neurodevelopmental delay	22837	COBLL1	ORPHA:199306
HP:0012758	Neurodevelopmental delay	54848	ARHGEF38	ORPHA:199306
HP:0012758	Neurodevelopmental delay	9411	ARHGAP29	ORPHA:199306
HP:0012758	Neurodevelopmental delay	8942	KYNU	OMIM:617661
HP:0012758	Neurodevelopmental delay	283489	CHAMP1	OMIM:616579
HP:0012758	Neurodevelopmental delay	27245	AHDC1	ORPHA:412069
HP:0012758	Neurodevelopmental delay	27245	AHDC1	OMIM:615829
HP:0012758	Neurodevelopmental delay	5424	POLD1	OMIM:620836
HP:0012758	Neurodevelopmental delay	55690	PACS1	OMIM:615009
HP:0012758	Neurodevelopmental delay	55690	PACS1	ORPHA:329224
HP:0012758	Neurodevelopmental delay	55904	KMT2E	OMIM:618512
HP:0012758	Neurodevelopmental delay	318	NUDT2	OMIM:619844
HP:0012758	Neurodevelopmental delay	9968	MED12	ORPHA:2728
HP:0012758	Neurodevelopmental delay	9968	MED12	ORPHA:93932
HP:0012758	Neurodevelopmental delay	9968	MED12	OMIM:300895
HP:0012758	Neurodevelopmental delay	2132	EXT2	ORPHA:466926
HP:0012758	Neurodevelopmental delay	57082	KNL1	OMIM:604321
HP:0012758	Neurodevelopmental delay	55650	PIGV	OMIM:239300
HP:0012758	Neurodevelopmental delay	2192	FBLN1	ORPHA:404451
HP:0012758	Neurodevelopmental delay	2188	FANCF	OMIM:603467
HP:0012758	Neurodevelopmental delay	284403	WDR62	OMIM:604317
HP:0012758	Neurodevelopmental delay	8029	CUBN	ORPHA:35858
HP:0012758	Neurodevelopmental delay	81693	AMN	ORPHA:35858
HP:0012758	Neurodevelopmental delay	7054	TH	OMIM:605407
HP:0012758	Neurodevelopmental delay	7054	TH	ORPHA:101150
HP:0012758	Neurodevelopmental delay	79868	ALG13	ORPHA:324422
HP:0012758	Neurodevelopmental delay	288	ANK3	OMIM:615493
HP:0012758	Neurodevelopmental delay	288	ANK3	ORPHA:356996
HP:0012758	Neurodevelopmental delay	818	CAMK2G	OMIM:618522
HP:0012758	Neurodevelopmental delay	55154	MSTO1	OMIM:617675
HP:0012758	Neurodevelopmental delay	55154	MSTO1	ORPHA:502423
HP:0012758	Neurodevelopmental delay	64359	NXN	OMIM:618529
HP:0012758	Neurodevelopmental delay	7436	VLDLR	OMIM:224050
HP:0012758	Neurodevelopmental delay	2770	GNAI1	OMIM:619854
HP:0012758	Neurodevelopmental delay	79140	CCDC28B	OMIM:209900
HP:0012758	Neurodevelopmental delay	85465	SELENOI	OMIM:618768
HP:0012758	Neurodevelopmental delay	4330	MN1	OMIM:618774
HP:0012758	Neurodevelopmental delay	5528	PPP2R5D	OMIM:616355
HP:0012758	Neurodevelopmental delay	5528	PPP2R5D	ORPHA:457279
HP:0012758	Neurodevelopmental delay	57231	SNX14	OMIM:616354
HP:0012758	Neurodevelopmental delay	57231	SNX14	ORPHA:397709
HP:0012758	Neurodevelopmental delay	23327	NEDD4L	OMIM:617201
HP:0012758	Neurodevelopmental delay	5833	PCYT2	OMIM:618770
HP:0012758	Neurodevelopmental delay	3340	NDST1	OMIM:616116
HP:0012758	Neurodevelopmental delay	11193	WBP4	OMIM:620852
HP:0012758	Neurodevelopmental delay	6602	SMARCD1	OMIM:618779
HP:0012758	Neurodevelopmental delay	26834	RNU4-2	OMIM:620851
HP:0012758	Neurodevelopmental delay	5373	PMM2	OMIM:212065
HP:0012758	Neurodevelopmental delay	5373	PMM2	ORPHA:79318
HP:0012758	Neurodevelopmental delay	8493	PPM1D	OMIM:617450
HP:0012758	Neurodevelopmental delay	26038	CHD5	OMIM:619873
HP:0012758	Neurodevelopmental delay	2911	GRM1	OMIM:617691
HP:0012758	Neurodevelopmental delay	2911	GRM1	OMIM:614831
HP:0012758	Neurodevelopmental delay	55621	TRMT1	OMIM:618302
HP:0012758	Neurodevelopmental delay	23126	POGZ	OMIM:616364
HP:0012758	Neurodevelopmental delay	23126	POGZ	ORPHA:468678
HP:0012758	Neurodevelopmental delay	55773	TBC1D23	OMIM:617695
HP:0012758	Neurodevelopmental delay	8558	CDK10	OMIM:617694
HP:0012758	Neurodevelopmental delay	51633	OTUD6B	OMIM:617452
HP:0012758	Neurodevelopmental delay	9354	UBE4A	OMIM:619639
HP:0012758	Neurodevelopmental delay	55280	CWF19L1	OMIM:616127
HP:0012758	Neurodevelopmental delay	55280	CWF19L1	ORPHA:453521
HP:0012758	Neurodevelopmental delay	92609	TIMM50	OMIM:617698
HP:0012758	Neurodevelopmental delay	3098	HK1	OMIM:618547
HP:0012758	Neurodevelopmental delay	5590	PRKCZ	ORPHA:1606
HP:0012758	Neurodevelopmental delay	2563	GABRD	ORPHA:1606
HP:0012758	Neurodevelopmental delay	23013	SPEN	ORPHA:1606
HP:0012758	Neurodevelopmental delay	23013	SPEN	OMIM:619312
HP:0012758	Neurodevelopmental delay	8510	MMP23B	ORPHA:1606
HP:0012758	Neurodevelopmental delay	7798	LUZP1	ORPHA:1606
HP:0012758	Neurodevelopmental delay	6497	SKI	ORPHA:1606
HP:0012758	Neurodevelopmental delay	10630	PDPN	ORPHA:1606
HP:0012758	Neurodevelopmental delay	3339	HSPG2	ORPHA:1606
HP:0012758	Neurodevelopmental delay	10277	UBE4B	ORPHA:1606
HP:0012758	Neurodevelopmental delay	8514	KCNAB2	ORPHA:1606
HP:0012758	Neurodevelopmental delay	473	RERE	ORPHA:1606
HP:0012758	Neurodevelopmental delay	63976	PRDM16	ORPHA:1606
HP:0012758	Neurodevelopmental delay	54897	CASZ1	ORPHA:1606
HP:0012758	Neurodevelopmental delay	1859	DYRK1A	ORPHA:464311
HP:0012758	Neurodevelopmental delay	1859	DYRK1A	OMIM:614104
HP:0012758	Neurodevelopmental delay	79718	TBL1XR1	OMIM:602342
HP:0012758	Neurodevelopmental delay	5621	PRNP	ORPHA:157941
HP:0012758	Neurodevelopmental delay	2232	FDXR	ORPHA:543470
HP:0012758	Neurodevelopmental delay	200424	TET3	OMIM:618798
HP:0012758	Neurodevelopmental delay	2620	GAS2	OMIM:620877
HP:0012758	Neurodevelopmental delay	111	ADCY5	OMIM:619647
HP:0012758	Neurodevelopmental delay	111	ADCY5	OMIM:619651
HP:0012758	Neurodevelopmental delay	9772	TMEM94	OMIM:618316
HP:0012758	Neurodevelopmental delay	79971	WLS	OMIM:619648
HP:0012758	Neurodevelopmental delay	9711	RUBCN	ORPHA:404499
HP:0012758	Neurodevelopmental delay	9711	RUBCN	OMIM:615705
HP:0012758	Neurodevelopmental delay	4208	MEF2C	ORPHA:228384
HP:0012758	Neurodevelopmental delay	5981	RFC1	ORPHA:504476
HP:0012758	Neurodevelopmental delay	55739	NAXD	OMIM:618321
HP:0012758	Neurodevelopmental delay	7143	TNR	OMIM:619653
HP:0012758	Neurodevelopmental delay	2260	FGFR1	OMIM:166250
HP:0012758	Neurodevelopmental delay	2260	FGFR1	OMIM:190440
HP:0012758	Neurodevelopmental delay	2260	FGFR1	ORPHA:3366
HP:0012758	Neurodevelopmental delay	25836	NIPBL	OMIM:122470
HP:0012758	Neurodevelopmental delay	374969	SVBP	OMIM:618569
HP:0012758	Neurodevelopmental delay	51322	WAC	ORPHA:466950
HP:0012758	Neurodevelopmental delay	51322	WAC	ORPHA:284169
HP:0012758	Neurodevelopmental delay	51322	WAC	OMIM:616708
HP:0012758	Neurodevelopmental delay	29110	TBK1	OMIM:620880
HP:0012758	Neurodevelopmental delay	2778	GNAS	ORPHA:79445
HP:0012758	Neurodevelopmental delay	2055	CLN8	OMIM:600143
HP:0012758	Neurodevelopmental delay	2055	CLN8	ORPHA:1947
HP:0012758	Neurodevelopmental delay	25970	SH2B1	ORPHA:261197
HP:0012758	Neurodevelopmental delay	25970	SH2B1	ORPHA:261222
HP:0012758	Neurodevelopmental delay	25970	SH2B1	ORPHA:329249
HP:0012758	Neurodevelopmental delay	10533	ATG7	OMIM:619422
HP:0012758	Neurodevelopmental delay	1523	CUX1	OMIM:618330
HP:0012758	Neurodevelopmental delay	120	ADD3	OMIM:617008
HP:0012758	Neurodevelopmental delay	171546	SPTSSA	OMIM:620416
HP:0012758	Neurodevelopmental delay	4212	MEIS2	ORPHA:261190
HP:0012758	Neurodevelopmental delay	5908	RAP1B	OMIM:620654
HP:0012758	Neurodevelopmental delay	6443	SGCB	ORPHA:119
HP:0012758	Neurodevelopmental delay	835	CASP2	OMIM:620653
HP:0012758	Neurodevelopmental delay	5813	PURA	ORPHA:314655
HP:0012758	Neurodevelopmental delay	9949	AMMECR1	OMIM:300990
HP:0012758	Neurodevelopmental delay	57526	PCDH19	ORPHA:101039
HP:0012758	Neurodevelopmental delay	695	BTK	OMIM:300755
HP:0012758	Neurodevelopmental delay	6134	RPL10	OMIM:300998
HP:0012758	Neurodevelopmental delay	6134	RPL10	ORPHA:459070
HP:0012758	Neurodevelopmental delay	1281	COL3A1	OMIM:618343
HP:0012758	Neurodevelopmental delay	160418	TMTC3	OMIM:617255
HP:0012758	Neurodevelopmental delay	123606	NIPA1	ORPHA:261183
HP:0012758	Neurodevelopmental delay	7283	TUBG1	ORPHA:261183
HP:0012758	Neurodevelopmental delay	81614	NIPA2	ORPHA:261183
HP:0012758	Neurodevelopmental delay	54517	PUS7	OMIM:618342
HP:0012758	Neurodevelopmental delay	10765	KDM5B	OMIM:618109
HP:0012758	Neurodevelopmental delay	2495	FTH1	OMIM:620669
HP:0012758	Neurodevelopmental delay	54973	INTS11	OMIM:620428
HP:0012758	Neurodevelopmental delay	10785	WDR4	OMIM:618347
HP:0012758	Neurodevelopmental delay	4967	OGDH	OMIM:203740
HP:0012758	Neurodevelopmental delay	57122	NUP107	OMIM:618348
HP:0012758	Neurodevelopmental delay	57122	NUP107	OMIM:616730
HP:0012758	Neurodevelopmental delay	6418	SET	OMIM:618106
HP:0012758	Neurodevelopmental delay	56623	INPP5E	OMIM:213300
HP:0012758	Neurodevelopmental delay	56623	INPP5E	ORPHA:75858
HP:0012758	Neurodevelopmental delay	56623	INPP5E	OMIM:610156
HP:0012758	Neurodevelopmental delay	253738	EBF3	ORPHA:96148
HP:0012758	Neurodevelopmental delay	253738	EBF3	OMIM:617330
HP:0012758	Neurodevelopmental delay	90459	ERI1	OMIM:620663
HP:0012758	Neurodevelopmental delay	90459	ERI1	OMIM:620662
HP:0012758	Neurodevelopmental delay	50814	NSDHL	ORPHA:251383
HP:0012758	Neurodevelopmental delay	50814	NSDHL	OMIM:300831
HP:0012758	Neurodevelopmental delay	100033413	SNORD116-1	OMIM:176270
HP:0012758	Neurodevelopmental delay	8924	HERC2	OMIM:176270
HP:0012758	Neurodevelopmental delay	8924	HERC2	OMIM:615516
HP:0012758	Neurodevelopmental delay	23742	NPAP1	OMIM:176270
HP:0012758	Neurodevelopmental delay	338433	SNORD115-1	OMIM:176270
HP:0012758	Neurodevelopmental delay	7681	MKRN3	OMIM:176270
HP:0012758	Neurodevelopmental delay	145624	PWAR1	OMIM:176270
HP:0012758	Neurodevelopmental delay	3653	IPW	OMIM:176270
HP:0012758	Neurodevelopmental delay	791114	PWRN1	OMIM:176270
HP:0012758	Neurodevelopmental delay	1120	CHKB	OMIM:602541
HP:0012758	Neurodevelopmental delay	5575	PRKAR1B	OMIM:619680
HP:0012758	Neurodevelopmental delay	3712	IVD	ORPHA:33
HP:0012758	Neurodevelopmental delay	5515	PPP2CA	OMIM:618354
HP:0012758	Neurodevelopmental delay	6096	RORB	OMIM:618357
HP:0012758	Neurodevelopmental delay	112755	STX1B	OMIM:616172
HP:0012758	Neurodevelopmental delay	116461	TSEN15	OMIM:617026
HP:0012758	Neurodevelopmental delay	55262	TRAPPC14	OMIM:618351
HP:0012758	Neurodevelopmental delay	23043	TNIK	OMIM:617028
HP:0012758	Neurodevelopmental delay	23524	SRRM2	OMIM:620439
HP:0012758	Neurodevelopmental delay	4784	NFIX	OMIM:602535
HP:0012758	Neurodevelopmental delay	4784	NFIX	ORPHA:447980
HP:0012758	Neurodevelopmental delay	4784	NFIX	OMIM:614753
HP:0012758	Neurodevelopmental delay	55250	ELP2	OMIM:617270
HP:0012758	Neurodevelopmental delay	84340	GFM2	ORPHA:565624
HP:0012758	Neurodevelopmental delay	84340	GFM2	OMIM:618397
HP:0012758	Neurodevelopmental delay	8888	MCM3AP	OMIM:618124
HP:0012758	Neurodevelopmental delay	51132	RLIM	OMIM:300978
HP:0012758	Neurodevelopmental delay	10588	MTHFS	OMIM:618367
HP:0012758	Neurodevelopmental delay	2334	AFF2	OMIM:309548
HP:0012758	Neurodevelopmental delay	2334	AFF2	ORPHA:100973
HP:0012758	Neurodevelopmental delay	24140	FTSJ1	OMIM:309549
HP:0012758	Neurodevelopmental delay	6601	SMARCC2	OMIM:618362
HP:0012758	Neurodevelopmental delay	92255	LMBRD2	OMIM:619694
HP:0012758	Neurodevelopmental delay	27341	RRP7A	OMIM:619453
HP:0012758	Neurodevelopmental delay	2019	EN1	OMIM:619218
HP:0012758	Neurodevelopmental delay	9675	TTI1	OMIM:620445
HP:0012758	Neurodevelopmental delay	3183	HNRNPC	OMIM:620688
HP:0012758	Neurodevelopmental delay	549	AUH	OMIM:250950
HP:0012758	Neurodevelopmental delay	549	AUH	ORPHA:67046
HP:0012758	Neurodevelopmental delay	5805	PTS	ORPHA:13
HP:0012758	Neurodevelopmental delay	80311	KLHL15	OMIM:300982
HP:0012758	Neurodevelopmental delay	56776	FMN2	OMIM:616193
HP:0012758	Neurodevelopmental delay	23111	SPART	ORPHA:101000
HP:0012758	Neurodevelopmental delay	2068	ERCC2	OMIM:601675
HP:0012758	Neurodevelopmental delay	1760	DMPK	ORPHA:589821
HP:0012758	Neurodevelopmental delay	7086	TKT	OMIM:617044
HP:0012758	Neurodevelopmental delay	7086	TKT	ORPHA:488618
HP:0012758	Neurodevelopmental delay	6390	SDHB	OMIM:619224
HP:0012758	Neurodevelopmental delay	84892	POMGNT2	OMIM:618135
HP:0012758	Neurodevelopmental delay	63931	MRPS14	OMIM:618378
HP:0012758	Neurodevelopmental delay	164	AP1G1	OMIM:619467
HP:0012758	Neurodevelopmental delay	164	AP1G1	OMIM:619548
HP:0012758	Neurodevelopmental delay	9758	FRMPD4	OMIM:300983
HP:0012758	Neurodevelopmental delay	7253	TSHR	OMIM:609152
HP:0012758	Neurodevelopmental delay	6304	SATB1	OMIM:619228
HP:0012758	Neurodevelopmental delay	6304	SATB1	OMIM:619229
HP:0012758	Neurodevelopmental delay	1974	EIF4A2	OMIM:620455
HP:0012758	Neurodevelopmental delay	220296	HEPACAM	OMIM:613925
HP:0012758	Neurodevelopmental delay	220296	HEPACAM	OMIM:613926
HP:0012758	Neurodevelopmental delay	220296	HEPACAM	ORPHA:210548
HP:0012758	Neurodevelopmental delay	6874	TAF4	OMIM:620450
HP:0012758	Neurodevelopmental delay	79736	TEFM	OMIM:620451
HP:0012758	Neurodevelopmental delay	3028	HSD17B10	ORPHA:391428
HP:0012758	Neurodevelopmental delay	3028	HSD17B10	OMIM:300438
HP:0012758	Neurodevelopmental delay	50801	KCNK4	OMIM:618381
HP:0012758	Neurodevelopmental delay	84065	TMEM222	OMIM:619470
HP:0012758	Neurodevelopmental delay	55697	VAC14	OMIM:617054
HP:0012758	Neurodevelopmental delay	57498	KIDINS220	OMIM:617296
HP:0012758	Neurodevelopmental delay	8812	CCNK	OMIM:618147
HP:0012758	Neurodevelopmental delay	57187	THOC2	OMIM:300957
HP:0012758	Neurodevelopmental delay	57187	THOC2	ORPHA:457240
HP:0012758	Neurodevelopmental delay	9851	KIAA0753	OMIM:619479
HP:0012758	Neurodevelopmental delay	27107	ZBTB11	OMIM:618383
HP:0012758	Neurodevelopmental delay	2892	GRIA3	ORPHA:364028
HP:0012758	Neurodevelopmental delay	7737	RNF113A	OMIM:300953
HP:0012758	Neurodevelopmental delay	6711	SPTBN1	OMIM:619475
HP:0012758	Neurodevelopmental delay	4361	MRE11	ORPHA:251347
HP:0012758	Neurodevelopmental delay	4361	MRE11	OMIM:604391
HP:0012758	Neurodevelopmental delay	8452	CUL3	OMIM:619239
HP:0012758	Neurodevelopmental delay	6608	SMO	OMIM:241800
HP:0012758	Neurodevelopmental delay	527	ATP6V0C	OMIM:620465
HP:0012758	Neurodevelopmental delay	80036	TRPM3	OMIM:620224
HP:0012758	Neurodevelopmental delay	10283	CWC27	ORPHA:166035
HP:0012758	Neurodevelopmental delay	10283	CWC27	OMIM:250410
HP:0012758	Neurodevelopmental delay	388015	RTL1	ORPHA:96184
HP:0012758	Neurodevelopmental delay	388015	RTL1	ORPHA:254531
HP:0012758	Neurodevelopmental delay	388015	RTL1	ORPHA:254525
HP:0012758	Neurodevelopmental delay	8788	DLK1	ORPHA:96184
HP:0012758	Neurodevelopmental delay	8788	DLK1	ORPHA:254531
HP:0012758	Neurodevelopmental delay	8788	DLK1	ORPHA:254525
HP:0012758	Neurodevelopmental delay	55384	MEG3	ORPHA:96184
HP:0012758	Neurodevelopmental delay	55384	MEG3	ORPHA:254531
HP:0012758	Neurodevelopmental delay	55384	MEG3	ORPHA:254525
HP:0012758	Neurodevelopmental delay	2887	GRB10	ORPHA:96182
HP:0012758	Neurodevelopmental delay	25839	COG4	OMIM:618150
HP:0012758	Neurodevelopmental delay	1457	CSNK2A1	OMIM:617062
HP:0012758	Neurodevelopmental delay	7204	TRIO	OMIM:617061
HP:0012758	Neurodevelopmental delay	7204	TRIO	OMIM:618825
HP:0012758	Neurodevelopmental delay	100147744	RNU7-1	OMIM:619487
HP:0012758	Neurodevelopmental delay	203068	TUBB	OMIM:156610
HP:0012758	Neurodevelopmental delay	203068	TUBB	OMIM:615771
HP:0012758	Neurodevelopmental delay	6872	TAF1	OMIM:300966
HP:0012758	Neurodevelopmental delay	6872	TAF1	ORPHA:480907
HP:0012758	Neurodevelopmental delay	8567	MADD	OMIM:619004
HP:0012758	Neurodevelopmental delay	8567	MADD	OMIM:619005
HP:0012758	Neurodevelopmental delay	4841	NONO	OMIM:300967
HP:0012758	Neurodevelopmental delay	4841	NONO	ORPHA:466791
HP:0012758	Neurodevelopmental delay	5058	PAK1	OMIM:618158
HP:0012758	Neurodevelopmental delay	8239	USP9X	OMIM:300968
HP:0012758	Neurodevelopmental delay	57477	SHROOM4	ORPHA:85288
HP:0012758	Neurodevelopmental delay	23067	SETD1B	OMIM:619000
HP:0012758	Neurodevelopmental delay	23112	TNRC6B	OMIM:619243
HP:0012758	Neurodevelopmental delay	91875	TTC5	OMIM:619244
HP:0012758	Neurodevelopmental delay	9373	PLAA	ORPHA:521426
HP:0012758	Neurodevelopmental delay	9373	PLAA	OMIM:617527
HP:0012758	Neurodevelopmental delay	23096	IQSEC2	OMIM:309530
HP:0012758	Neurodevelopmental delay	23096	IQSEC2	ORPHA:819
HP:0012758	Neurodevelopmental delay	23096	IQSEC2	ORPHA:217377
HP:0012758	Neurodevelopmental delay	10681	GNB5	ORPHA:542306
HP:0012758	Neurodevelopmental delay	10681	GNB5	OMIM:617173
HP:0012758	Neurodevelopmental delay	10681	GNB5	OMIM:617182
HP:0012758	Neurodevelopmental delay	5625	PRODH	OMIM:239500
HP:0012758	Neurodevelopmental delay	2799	GNS	OMIM:252940
HP:0012758	Neurodevelopmental delay	23387	SIK3	OMIM:618162
HP:0012758	Neurodevelopmental delay	84231	TRAF7	OMIM:618164
HP:0012758	Neurodevelopmental delay	8242	KDM5C	ORPHA:85279
HP:0012758	Neurodevelopmental delay	8242	KDM5C	OMIM:300534
HP:0012758	Neurodevelopmental delay	1315	COPB1	OMIM:619255
HP:0012758	Neurodevelopmental delay	27316	RBMX	ORPHA:85286
HP:0012758	Neurodevelopmental delay	284058	KANSL1	OMIM:610443
HP:0012758	Neurodevelopmental delay	284058	KANSL1	ORPHA:363958
HP:0012758	Neurodevelopmental delay	284058	KANSL1	ORPHA:363965
HP:0012758	Neurodevelopmental delay	81615	TMEM163	OMIM:620243
HP:0012758	Neurodevelopmental delay	51082	POLR1D	OMIM:613717
HP:0012758	Neurodevelopmental delay	51082	POLR1D	ORPHA:861
HP:0012758	Neurodevelopmental delay	10079	ATP9A	OMIM:620242
HP:0012758	Neurodevelopmental delay	2801	GOLGA2	OMIM:620240
HP:0012758	Neurodevelopmental delay	284361	EMC10	OMIM:619264
HP:0012758	Neurodevelopmental delay	170302	ARX	OMIM:309510
HP:0012758	Neurodevelopmental delay	170302	ARX	ORPHA:94083
HP:0012758	Neurodevelopmental delay	8398	PLA2G6	OMIM:610217
HP:0012758	Neurodevelopmental delay	8398	PLA2G6	OMIM:256600
HP:0012758	Neurodevelopmental delay	8398	PLA2G6	ORPHA:35069
HP:0012758	Neurodevelopmental delay	55294	FBXW7	OMIM:620012
HP:0012758	Neurodevelopmental delay	9898	UBAP2L	OMIM:620494
HP:0012758	Neurodevelopmental delay	9131	AIFM1	ORPHA:238329
HP:0012758	Neurodevelopmental delay	6095	RORA	OMIM:618060
HP:0012758	Neurodevelopmental delay	5138	PDE2A	OMIM:619150
HP:0012758	Neurodevelopmental delay	8450	CUL4B	OMIM:300354
HP:0012758	Neurodevelopmental delay	6535	SLC6A8	OMIM:300352
HP:0012758	Neurodevelopmental delay	6535	SLC6A8	ORPHA:52503
HP:0012758	Neurodevelopmental delay	26960	NBEA	OMIM:619157
HP:0012758	Neurodevelopmental delay	23241	PACS2	OMIM:618067
HP:0012758	Neurodevelopmental delay	23241	PACS2	ORPHA:442835
HP:0012758	Neurodevelopmental delay	10466	COG5	OMIM:613612
HP:0012758	Neurodevelopmental delay	10466	COG5	ORPHA:263487
HP:0012758	Neurodevelopmental delay	123263	MTFMT	OMIM:614947
HP:0012758	Neurodevelopmental delay	340990	OTOG	OMIM:614945
HP:0012758	Neurodevelopmental delay	51343	FZR1	OMIM:620145
HP:0012758	Neurodevelopmental delay	51343	FZR1	ORPHA:442835
HP:0012758	Neurodevelopmental delay	10093	ARPC4	OMIM:620141
HP:0012758	Neurodevelopmental delay	5447	POR	ORPHA:95699
HP:0012758	Neurodevelopmental delay	80232	WDR26	ORPHA:513456
HP:0012758	Neurodevelopmental delay	3199	HOXA2	ORPHA:83463
HP:0012758	Neurodevelopmental delay	4010	LMX1B	ORPHA:495818
HP:0012758	Neurodevelopmental delay	6812	STXBP1	ORPHA:495818
HP:0012758	Neurodevelopmental delay	6812	STXBP1	ORPHA:599373
HP:0012758	Neurodevelopmental delay	80055	PGAP1	OMIM:615802
HP:0012758	Neurodevelopmental delay	2314	FLII	ORPHA:819
HP:0012758	Neurodevelopmental delay	10522	DEAF1	ORPHA:819
HP:0012758	Neurodevelopmental delay	55780	ERMARD	ORPHA:75857
HP:0012758	Neurodevelopmental delay	55780	ERMARD	OMIM:615544
HP:0012758	Neurodevelopmental delay	9382	COG1	OMIM:611209
HP:0012758	Neurodevelopmental delay	4001	LMNB1	OMIM:619179
HP:0012758	Neurodevelopmental delay	64324	NSD1	OMIM:117550
HP:0012758	Neurodevelopmental delay	8913	CACNA1G	OMIM:618087
HP:0012758	Neurodevelopmental delay	3766	KCNJ10	OMIM:612780
HP:0012758	Neurodevelopmental delay	80204	FBXO11	OMIM:618089
HP:0012758	Neurodevelopmental delay	93627	TBCK	OMIM:616900
HP:0012758	Neurodevelopmental delay	93627	TBCK	ORPHA:488632
HP:0012758	Neurodevelopmental delay	80254	CEP63	OMIM:614728
HP:0012758	Neurodevelopmental delay	23325	WASHC4	OMIM:615817
HP:0012758	Neurodevelopmental delay	56984	PSMG2	OMIM:619183
HP:0012758	Neurodevelopmental delay	57531	HACE1	ORPHA:464282
HP:0012758	Neurodevelopmental delay	80856	LNPK	OMIM:618090
HP:0012758	Neurodevelopmental delay	84823	LMNB2	OMIM:619180
HP:0012758	Neurodevelopmental delay	64919	BCL11B	OMIM:618092
HP:0012758	Neurodevelopmental delay	23036	ZNF292	OMIM:619188
HP:0012758	Neurodevelopmental delay	23545	ATP6V0A2	OMIM:278250
HP:0012758	Neurodevelopmental delay	23545	ATP6V0A2	ORPHA:2834
HP:0012758	Neurodevelopmental delay	23545	ATP6V0A2	ORPHA:357074
HP:0012758	Neurodevelopmental delay	23314	SATB2	OMIM:612313
HP:0012758	Neurodevelopmental delay	23314	SATB2	ORPHA:251019
HP:0012758	Neurodevelopmental delay	54872	PIGG	OMIM:616917
HP:0012758	Neurodevelopmental delay	54872	PIGG	ORPHA:488635
HP:0012758	Neurodevelopmental delay	25942	SIN3A	OMIM:613406
HP:0012758	Neurodevelopmental delay	175	AGA	ORPHA:93
HP:0012758	Neurodevelopmental delay	175	AGA	OMIM:208400
HP:0012758	Neurodevelopmental delay	3192	HNRNPU	ORPHA:238769
HP:0012758	Neurodevelopmental delay	9653	HS2ST1	OMIM:619194
HP:0012758	Neurodevelopmental delay	2903	GRIN2A	OMIM:245570
HP:0012758	Neurodevelopmental delay	2903	GRIN2A	ORPHA:163721
HP:0012758	Neurodevelopmental delay	5063	PAK3	OMIM:300558
HP:0012758	Neurodevelopmental delay	27286	SRPX2	ORPHA:163721
HP:0012758	Neurodevelopmental delay	27286	SRPX2	ORPHA:98889
HP:0012758	Neurodevelopmental delay	26053	AUTS2	OMIM:615834
HP:0012758	Neurodevelopmental delay	26053	AUTS2	ORPHA:352490
HP:0012758	Neurodevelopmental delay	3211	HOXB1	OMIM:614744
HP:0012758	Neurodevelopmental delay	84720	PIGO	OMIM:614749
HP:0012758	Neurodevelopmental delay	55343	SLC35C1	OMIM:266265
HP:0012758	Neurodevelopmental delay	283209	PGM2L1	OMIM:620191
HP:0012758	Neurodevelopmental delay	79228	THOC6	ORPHA:363444
HP:0012758	Neurodevelopmental delay	2316	FLNA	OMIM:300321
HP:0012758	Neurodevelopmental delay	23522	KAT6B	ORPHA:85201
HP:0012758	Neurodevelopmental delay	182	JAG1	OMIM:118450
HP:0012758	Neurodevelopmental delay	10472	ZBTB18	OMIM:612337
HP:0012758	Neurodevelopmental delay	34	ACADM	ORPHA:42
HP:0012758	Neurodevelopmental delay	55084	SOBP	OMIM:613671
HP:0012758	Neurodevelopmental delay	27086	FOXP1	OMIM:613670
HP:0012758	Neurodevelopmental delay	27086	FOXP1	ORPHA:391372
HP:0012758	Neurodevelopmental delay	55149	MTPAP	OMIM:613672
HP:0012758	Neurodevelopmental delay	2146	EZH2	OMIM:277590
HP:0012758	Neurodevelopmental delay	81887	LAS1L	OMIM:309585
HP:0012758	Neurodevelopmental delay	10815	CPLX1	ORPHA:352582
HP:0012758	Neurodevelopmental delay	6509	SLC1A4	ORPHA:447997
HP:0012758	Neurodevelopmental delay	226	ALDOA	ORPHA:57
HP:0012758	Neurodevelopmental delay	6567	SLC16A2	ORPHA:59
HP:0012758	Neurodevelopmental delay	5832	ALDH18A1	ORPHA:447760
HP:0012758	Neurodevelopmental delay	22907	DHX30	OMIM:617804
HP:0012758	Neurodevelopmental delay	10075	HUWE1	OMIM:309590
HP:0012758	Neurodevelopmental delay	6513	SLC2A1	ORPHA:71277
HP:0012758	Neurodevelopmental delay	6513	SLC2A1	OMIM:606777
HP:0012758	Neurodevelopmental delay	6513	SLC2A1	ORPHA:1942
HP:0012758	Neurodevelopmental delay	8243	SMC1A	OMIM:301044
HP:0012758	Neurodevelopmental delay	124997	WDR81	OMIM:610185
HP:0012758	Neurodevelopmental delay	89891	DYNC2I2	OMIM:615633
HP:0012758	Neurodevelopmental delay	132	ADK	OMIM:614300
HP:0012758	Neurodevelopmental delay	2290	FOXG1	OMIM:613454
HP:0012758	Neurodevelopmental delay	2290	FOXG1	ORPHA:442835
HP:0012758	Neurodevelopmental delay	11133	KPTN	OMIM:615637
HP:0012758	Neurodevelopmental delay	11133	KPTN	ORPHA:397612
HP:0012758	Neurodevelopmental delay	6334	SCN8A	OMIM:614306
HP:0012758	Neurodevelopmental delay	6334	SCN8A	ORPHA:442835
HP:0012758	Neurodevelopmental delay	89970	RSPRY1	OMIM:616723
HP:0012758	Neurodevelopmental delay	23028	KDM1A	OMIM:616728
HP:0012758	Neurodevelopmental delay	23028	KDM1A	ORPHA:477993
HP:0012758	Neurodevelopmental delay	26115	TANC2	OMIM:618906
HP:0012758	Neurodevelopmental delay	26580	BSCL2	ORPHA:363400
HP:0012758	Neurodevelopmental delay	26580	BSCL2	OMIM:615924
HP:0012758	Neurodevelopmental delay	1806	DPYD	OMIM:274270
HP:0012758	Neurodevelopmental delay	1806	DPYD	ORPHA:293948
HP:0012758	Neurodevelopmental delay	23291	FBXW11	OMIM:618914
HP:0012758	Neurodevelopmental delay	2782	GNB1	OMIM:616973
HP:0012758	Neurodevelopmental delay	3097	HIVEP2	OMIM:616977
HP:0012758	Neurodevelopmental delay	10982	MAPRE2	OMIM:616734
HP:0012758	Neurodevelopmental delay	3176	HNMT	OMIM:616739
HP:0012758	Neurodevelopmental delay	2891	GRIA2	OMIM:618917
HP:0012758	Neurodevelopmental delay	4131	MAP1B	OMIM:618918
HP:0012758	Neurodevelopmental delay	84679	SLC9A7	OMIM:301024
HP:0012758	Neurodevelopmental delay	90161	HS6ST2	OMIM:301025
HP:0012758	Neurodevelopmental delay	4694	NDUFA1	OMIM:301020
HP:0012758	Neurodevelopmental delay	10735	STAG2	OMIM:301022
HP:0012758	Neurodevelopmental delay	2332	FMR1	ORPHA:449291
HP:0012758	Neurodevelopmental delay	2332	FMR1	ORPHA:908
HP:0012758	Neurodevelopmental delay	55906	ZC4H2	OMIM:314580
HP:0012758	Neurodevelopmental delay	63035	BCORL1	OMIM:301029
HP:0012758	Neurodevelopmental delay	116150	NUS1	OMIM:617831
HP:0012758	Neurodevelopmental delay	116150	NUS1	ORPHA:442835
HP:0012758	Neurodevelopmental delay	79947	DHDDS	OMIM:617836
HP:0012758	Neurodevelopmental delay	79947	DHDDS	ORPHA:442835
HP:0012758	Neurodevelopmental delay	91137	SLC25A46	OMIM:616505
HP:0012758	Neurodevelopmental delay	6678	SPARC	OMIM:616507
HP:0012758	Neurodevelopmental delay	6792	CDKL5	ORPHA:505652
HP:0012758	Neurodevelopmental delay	10943	MSL3	OMIM:301032
HP:0012758	Neurodevelopmental delay	6638	SNRPN	OMIM:209850
HP:0012758	Neurodevelopmental delay	6638	SNRPN	ORPHA:177907
HP:0012758	Neurodevelopmental delay	4041	LRP5	ORPHA:2788
HP:0012758	Neurodevelopmental delay	56479	KCNQ5	OMIM:617601
HP:0012758	Neurodevelopmental delay	23152	CIC	OMIM:617600
HP:0012758	Neurodevelopmental delay	128637	TBC1D20	OMIM:615663
HP:0012758	Neurodevelopmental delay	9343	EFTUD2	ORPHA:79113
HP:0012758	Neurodevelopmental delay	9343	EFTUD2	OMIM:610536
HP:0012758	Neurodevelopmental delay	9997	SCO2	OMIM:604377
HP:0012758	Neurodevelopmental delay	10367	MICU1	OMIM:615673
HP:0012758	Neurodevelopmental delay	8270	LAGE3	OMIM:301006
HP:0012758	Neurodevelopmental delay	22866	CNKSR2	OMIM:301008
HP:0012758	Neurodevelopmental delay	22866	CNKSR2	ORPHA:442835
HP:0012758	Neurodevelopmental delay	1861	TOR1A	OMIM:618947
HP:0012758	Neurodevelopmental delay	79853	TM4SF20	OMIM:615432
HP:0012758	Neurodevelopmental delay	117581	TWIST2	OMIM:209885
HP:0012758	Neurodevelopmental delay	117581	TWIST2	OMIM:200110
HP:0012758	Neurodevelopmental delay	117581	TWIST2	ORPHA:920
HP:0012758	Neurodevelopmental delay	23040	MYT1L	OMIM:616521
HP:0012758	Neurodevelopmental delay	23040	MYT1L	ORPHA:647799
HP:0012758	Neurodevelopmental delay	8936	WASF1	OMIM:618707
HP:0012758	Neurodevelopmental delay	6697	SPR	ORPHA:70594
HP:0012758	Neurodevelopmental delay	26503	SLC17A5	OMIM:604369
HP:0012758	Neurodevelopmental delay	80210	ARMC9	OMIM:617622
HP:0012758	Neurodevelopmental delay	81562	LMAN2L	OMIM:617863
HP:0012758	Neurodevelopmental delay	84628	NTNG2	OMIM:618718
HP:0012758	Neurodevelopmental delay	139285	AMER1	OMIM:300373
HP:0012758	Neurodevelopmental delay	259266	ASPM	OMIM:608716
HP:0012758	Neurodevelopmental delay	54802	TRIT1	OMIM:617873
HP:0012758	Neurodevelopmental delay	7518	XRCC4	OMIM:616541
HP:0012758	Neurodevelopmental delay	10274	STAG1	OMIM:617635
HP:0012758	Neurodevelopmental delay	51317	PHF21A	OMIM:618725
HP:0012758	Neurodevelopmental delay	2806	GOT2	OMIM:618721
HP:0012758	Neurodevelopmental delay	1788	DNMT3A	OMIM:618724
HP:0012758	Neurodevelopmental delay	3778	KCNMA1	OMIM:618729
HP:0012758	Neurodevelopmental delay	3778	KCNMA1	OMIM:617643
HP:0012758	Neurodevelopmental delay	2182	ACSL4	OMIM:300387
HP:0012758	Neurodevelopmental delay	9699	RIMS2	OMIM:618970
HP:0012758	Neurodevelopmental delay	1968	EIF2S3	OMIM:300148
HP:0012758	Neurodevelopmental delay	672	BRCA1	OMIM:617883
HP:0012758	Neurodevelopmental delay	523	ATP6V1A	OMIM:617403
HP:0012758	Neurodevelopmental delay	523	ATP6V1A	ORPHA:442835
HP:0012758	Neurodevelopmental delay	523	ATP6V1A	ORPHA:357074
HP:0012758	Neurodevelopmental delay	84148	KAT8	OMIM:618974
HP:0012758	Neurodevelopmental delay	27034	ACAD8	ORPHA:79159
HP:0012758	Neurodevelopmental delay	7528	YY1	ORPHA:506358
HP:0012758	Neurodevelopmental delay	7528	YY1	OMIM:617557
HP:0012758	Neurodevelopmental delay	2218	FKTN	ORPHA:272
HP:0012758	Neurodevelopmental delay	8367	H4C5	OMIM:619950
HP:0012758	Neurodevelopmental delay	91452	ACBD5	OMIM:618863
HP:0012758	Neurodevelopmental delay	9853	RUSC2	OMIM:617773
HP:0012758	Neurodevelopmental delay	9524	TECR	OMIM:614020
HP:0012758	Neurodevelopmental delay	4750	NEK1	OMIM:263520
HP:0012758	Neurodevelopmental delay	23446	SLC44A1	OMIM:618868
HP:0012758	Neurodevelopmental delay	6873	TAF2	OMIM:615599
HP:0012758	Neurodevelopmental delay	2895	GRID2	OMIM:616204
HP:0012758	Neurodevelopmental delay	10054	UBA2	OMIM:619959
HP:0012758	Neurodevelopmental delay	2972	BRF1	OMIM:616202
HP:0012758	Neurodevelopmental delay	10973	ASCC3	OMIM:620700
HP:0012758	Neurodevelopmental delay	3703	STT3A	OMIM:619714
HP:0012758	Neurodevelopmental delay	84942	WDR73	OMIM:251300
HP:0012758	Neurodevelopmental delay	116931	MED12L	OMIM:618872
HP:0012758	Neurodevelopmental delay	3020	H3-3A	OMIM:619720
HP:0012758	Neurodevelopmental delay	7552	ZNF711	OMIM:300803
HP:0012758	Neurodevelopmental delay	1630	DCC	OMIM:617542
HP:0012758	Neurodevelopmental delay	51111	KMT5B	OMIM:617788
HP:0012758	Neurodevelopmental delay	80155	NAA15	OMIM:617787
HP:0012758	Neurodevelopmental delay	472	ATM	OMIM:208900
HP:0012758	Neurodevelopmental delay	10501	SEMA6B	OMIM:618876
HP:0012758	Neurodevelopmental delay	8309	ACOX2	OMIM:617308
HP:0012758	Neurodevelopmental delay	10381	TUBB3	OMIM:614039
HP:0012758	Neurodevelopmental delay	57156	TMEM63C	OMIM:619966
HP:0012758	Neurodevelopmental delay	28960	DCPS	OMIM:616459
HP:0012758	Neurodevelopmental delay	27102	EIF2AK1	OMIM:618878
HP:0012758	Neurodevelopmental delay	3781	KCNN2	OMIM:619725
HP:0012758	Neurodevelopmental delay	5189	PEX1	OMIM:214100
HP:0012758	Neurodevelopmental delay	5189	PEX1	OMIM:601539
HP:0012758	Neurodevelopmental delay	137492	VPS37A	ORPHA:319199
HP:0012758	Neurodevelopmental delay	137492	VPS37A	OMIM:614898
HP:0012758	Neurodevelopmental delay	83696	TRAPPC9	OMIM:613192
HP:0012758	Neurodevelopmental delay	129685	TAF8	OMIM:619972
HP:0012758	Neurodevelopmental delay	2590	GALNT2	OMIM:618885
HP:0012758	Neurodevelopmental delay	55870	ASH1L	OMIM:617796
HP:0012758	Neurodevelopmental delay	535	ATP6V0A1	OMIM:619970
HP:0012758	Neurodevelopmental delay	816	CAMK2B	OMIM:617799
HP:0012758	Neurodevelopmental delay	815	CAMK2A	OMIM:617798
HP:0012758	Neurodevelopmental delay	23184	MESD	OMIM:618644
HP:0012758	Neurodevelopmental delay	51319	RSRC1	OMIM:618402
HP:0012758	Neurodevelopmental delay	8560	DEGS1	OMIM:618404
HP:0012758	Neurodevelopmental delay	157680	VPS13B	OMIM:216550
HP:0012758	Neurodevelopmental delay	8726	EED	OMIM:617561
HP:0012758	Neurodevelopmental delay	10715	CERS1	OMIM:616230
HP:0012758	Neurodevelopmental delay	1656	DDX6	OMIM:618653
HP:0012758	Neurodevelopmental delay	2744	GLS	OMIM:618412
HP:0012758	Neurodevelopmental delay	5442	POLRMT	OMIM:619743
HP:0012758	Neurodevelopmental delay	6712	SPTBN2	OMIM:615386
HP:0012758	Neurodevelopmental delay	6712	SPTBN2	ORPHA:352403
HP:0012758	Neurodevelopmental delay	4297	KMT2A	ORPHA:319182
HP:0012758	Neurodevelopmental delay	4297	KMT2A	OMIM:605130
HP:0012758	Neurodevelopmental delay	55714	TENM3	OMIM:615145
HP:0012758	Neurodevelopmental delay	83636	C19orf12	OMIM:614298
HP:0012758	Neurodevelopmental delay	833	CARS1	OMIM:618891
HP:0012758	Neurodevelopmental delay	57178	ZMIZ1	OMIM:618659
HP:0012758	Neurodevelopmental delay	2783	GNB2	OMIM:619503
HP:0012758	Neurodevelopmental delay	26057	ANKRD17	OMIM:619504
HP:0012758	Neurodevelopmental delay	3737	KCNA2	ORPHA:442835
HP:0012758	Neurodevelopmental delay	8120	AP3B2	ORPHA:442835
HP:0012758	Neurodevelopmental delay	10991	SLC38A3	ORPHA:442835
HP:0012758	Neurodevelopmental delay	3747	KCNC2	ORPHA:442835
HP:0012758	Neurodevelopmental delay	1917	EEF1A2	ORPHA:442835
HP:0012758	Neurodevelopmental delay	1917	EEF1A2	OMIM:616409
HP:0012758	Neurodevelopmental delay	23219	FBXO28	ORPHA:442835
HP:0012758	Neurodevelopmental delay	2561	GABRB2	ORPHA:442835
HP:0012758	Neurodevelopmental delay	8831	SYNGAP1	ORPHA:442835
HP:0012758	Neurodevelopmental delay	8831	SYNGAP1	ORPHA:1942
HP:0012758	Neurodevelopmental delay	8831	SYNGAP1	ORPHA:544254
HP:0012758	Neurodevelopmental delay	2558	GABRA5	ORPHA:442835
HP:0012758	Neurodevelopmental delay	2906	GRIN2D	ORPHA:442835
HP:0012758	Neurodevelopmental delay	1213	CLTC	ORPHA:442835
HP:0012758	Neurodevelopmental delay	51741	WWOX	ORPHA:442835
HP:0012758	Neurodevelopmental delay	51741	WWOX	ORPHA:284282
HP:0012758	Neurodevelopmental delay	23334	SZT2	ORPHA:442835
HP:0012758	Neurodevelopmental delay	348980	HCN1	ORPHA:442835
HP:0012758	Neurodevelopmental delay	348980	HCN1	OMIM:618482
HP:0012758	Neurodevelopmental delay	25977	NECAP1	ORPHA:442835
HP:0012758	Neurodevelopmental delay	16	AARS1	ORPHA:442835
HP:0012758	Neurodevelopmental delay	9568	GABBR2	ORPHA:442835
HP:0012758	Neurodevelopmental delay	2555	GABRA2	ORPHA:442835
HP:0012758	Neurodevelopmental delay	55152	DALRD3	ORPHA:442835
HP:0012758	Neurodevelopmental delay	26999	CYFIP2	ORPHA:442835
HP:0012758	Neurodevelopmental delay	4915	NTRK2	ORPHA:442835
HP:0012758	Neurodevelopmental delay	25973	PARS2	ORPHA:442835
HP:0012758	Neurodevelopmental delay	23097	CDK19	ORPHA:442835
HP:0012758	Neurodevelopmental delay	2257	FGF12	ORPHA:442835
HP:0012758	Neurodevelopmental delay	5530	PPP3CA	ORPHA:442835
HP:0012758	Neurodevelopmental delay	22906	TRAK1	ORPHA:442835
HP:0012758	Neurodevelopmental delay	2566	GABRG2	ORPHA:442835
HP:0012758	Neurodevelopmental delay	7532	YWHAG	ORPHA:442835
HP:0012758	Neurodevelopmental delay	79876	UBA5	ORPHA:442835
HP:0012758	Neurodevelopmental delay	6328	SCN3A	ORPHA:442835
HP:0012758	Neurodevelopmental delay	6328	SCN3A	OMIM:617935
HP:0012758	Neurodevelopmental delay	781	CACNA2D1	ORPHA:442835
HP:0012758	Neurodevelopmental delay	10659	CELF2	ORPHA:442835
HP:0012758	Neurodevelopmental delay	10659	CELF2	OMIM:619561
HP:0012758	Neurodevelopmental delay	774	CACNA1B	ORPHA:442835
HP:0012758	Neurodevelopmental delay	51412	ACTL6B	ORPHA:442835
HP:0012758	Neurodevelopmental delay	6506	SLC1A2	ORPHA:442835
HP:0012758	Neurodevelopmental delay	8867	SYNJ1	ORPHA:442835
HP:0012758	Neurodevelopmental delay	3745	KCNB1	ORPHA:442835
HP:0012758	Neurodevelopmental delay	284111	SLC13A5	ORPHA:442835
HP:0012758	Neurodevelopmental delay	55623	THUMPD1	OMIM:619989
HP:0012758	Neurodevelopmental delay	284439	SLC25A42	OMIM:618416
HP:0012758	Neurodevelopmental delay	56006	SMG9	OMIM:619995
HP:0012758	Neurodevelopmental delay	1182	CLCN3	OMIM:619512
HP:0012758	Neurodevelopmental delay	29081	METTL5	OMIM:618665
HP:0012758	Neurodevelopmental delay	10717	AP4B1	OMIM:614066
HP:0012758	Neurodevelopmental delay	7862	BRPF1	OMIM:617333
HP:0012758	Neurodevelopmental delay	8363	H4C11	OMIM:619759
HP:0012758	Neurodevelopmental delay	2550	GABBR1	OMIM:620502
HP:0012758	Neurodevelopmental delay	2592	GALT	OMIM:230400
HP:0012758	Neurodevelopmental delay	2592	GALT	ORPHA:79239
HP:0012758	Neurodevelopmental delay	7701	ZNF142	OMIM:618425
HP:0012758	Neurodevelopmental delay	6899	TBX1	ORPHA:1727
HP:0012758	Neurodevelopmental delay	6899	TBX1	OMIM:188400
HP:0012758	Neurodevelopmental delay	8659	ALDH4A1	ORPHA:79101
HP:0012758	Neurodevelopmental delay	26137	ZBTB20	OMIM:259050
HP:0012758	Neurodevelopmental delay	8314	BAP1	OMIM:619762
HP:0012758	Neurodevelopmental delay	10021	HCN4	OMIM:619521
HP:0012758	Neurodevelopmental delay	7750	ZMYM2	OMIM:619522
HP:0012758	Neurodevelopmental delay	6942	TCF20	OMIM:618430
HP:0012758	Neurodevelopmental delay	2720	GLB1	OMIM:230650
HP:0012758	Neurodevelopmental delay	22	ABCB7	ORPHA:2802
HP:0012758	Neurodevelopmental delay	10297	APC2	OMIM:618677
HP:0012758	Neurodevelopmental delay	10297	APC2	OMIM:617169
HP:0012758	Neurodevelopmental delay	57466	SCAF4	OMIM:620511
HP:0012758	Neurodevelopmental delay	256471	MFSD8	OMIM:610951
HP:0012758	Neurodevelopmental delay	51341	ZBTB7A	OMIM:619769
HP:0012758	Neurodevelopmental delay	9338	TCEAL1	OMIM:301094
HP:0012758	Neurodevelopmental delay	7030	TFE3	OMIM:301066
HP:0012758	Neurodevelopmental delay	4123	MAN2C1	OMIM:619775
HP:0012758	Neurodevelopmental delay	54941	RNF125	OMIM:616260
HP:0012758	Neurodevelopmental delay	85365	ALG2	OMIM:607906
HP:0012758	Neurodevelopmental delay	10463	SLC30A9	OMIM:617595
HP:0012758	Neurodevelopmental delay	57479	PRR12	OMIM:619539
HP:0012758	Neurodevelopmental delay	6709	SPTAN1	OMIM:620528
HP:0012758	Neurodevelopmental delay	6709	SPTAN1	OMIM:620540
HP:0012758	Neurodevelopmental delay	1107	CHD3	OMIM:618205
HP:0012758	Neurodevelopmental delay	85459	CEP295	OMIM:620767
HP:0012758	Neurodevelopmental delay	79087	ALG12	ORPHA:79324
HP:0012758	Neurodevelopmental delay	1173	AP2M1	ORPHA:1942
HP:0012758	Neurodevelopmental delay	6529	SLC6A1	ORPHA:1942
HP:0012758	Neurodevelopmental delay	25981	DNAH1	ORPHA:244
HP:0012758	Neurodevelopmental delay	115948	ODAD3	ORPHA:244
HP:0012758	Neurodevelopmental delay	54768	HYDIN	ORPHA:244
HP:0012758	Neurodevelopmental delay	352909	DNAAF3	ORPHA:244
HP:0012758	Neurodevelopmental delay	27148	STK36	ORPHA:244
HP:0012758	Neurodevelopmental delay	51314	NME8	ORPHA:244
HP:0012758	Neurodevelopmental delay	92749	DRC1	ORPHA:244
HP:0012758	Neurodevelopmental delay	54970	TTC12	ORPHA:244
HP:0012758	Neurodevelopmental delay	152110	NEK10	ORPHA:244
HP:0012758	Neurodevelopmental delay	8481	OFD1	ORPHA:244
HP:0012758	Neurodevelopmental delay	2302	FOXJ1	ORPHA:244
HP:0012758	Neurodevelopmental delay	221421	RSPH9	ORPHA:244
HP:0012758	Neurodevelopmental delay	85478	CCDC65	ORPHA:244
HP:0012758	Neurodevelopmental delay	55036	CCDC40	ORPHA:244
HP:0012758	Neurodevelopmental delay	51364	ZMYND10	ORPHA:244
HP:0012758	Neurodevelopmental delay	64446	DNAI2	ORPHA:244
HP:0012758	Neurodevelopmental delay	8382	NME5	ORPHA:244
HP:0012758	Neurodevelopmental delay	6674	SPAG1	ORPHA:244
HP:0012758	Neurodevelopmental delay	83544	DNAL1	ORPHA:244
HP:0012758	Neurodevelopmental delay	89765	RSPH1	ORPHA:244
HP:0012758	Neurodevelopmental delay	83538	ODAD4	ORPHA:244
HP:0012758	Neurodevelopmental delay	200373	CFAP221	ORPHA:244
HP:0012758	Neurodevelopmental delay	374407	DNAJB13	ORPHA:244
HP:0012758	Neurodevelopmental delay	55172	DNAAF2	ORPHA:244
HP:0012758	Neurodevelopmental delay	161582	DNAAF4	ORPHA:244
HP:0012758	Neurodevelopmental delay	2622	GAS8	ORPHA:244
HP:0012758	Neurodevelopmental delay	23639	DNAAF11	ORPHA:244
HP:0012758	Neurodevelopmental delay	27019	DNAI1	ORPHA:244
HP:0012758	Neurodevelopmental delay	345895	RSPH4A	ORPHA:244
HP:0012758	Neurodevelopmental delay	54919	DNAAF5	ORPHA:244
HP:0012758	Neurodevelopmental delay	6103	RPGR	ORPHA:244
HP:0012758	Neurodevelopmental delay	85452	CFAP74	ORPHA:244
HP:0012758	Neurodevelopmental delay	93233	ODAD1	ORPHA:244
HP:0012758	Neurodevelopmental delay	55130	ODAD2	ORPHA:244
HP:0012758	Neurodevelopmental delay	1767	DNAH5	ORPHA:244
HP:0012758	Neurodevelopmental delay	83861	RSPH3	ORPHA:244
HP:0012758	Neurodevelopmental delay	345643	MCIDAS	ORPHA:244
HP:0012758	Neurodevelopmental delay	56683	CFAP298	ORPHA:244
HP:0012758	Neurodevelopmental delay	79925	SPEF2	ORPHA:244
HP:0012758	Neurodevelopmental delay	10309	CCNO	ORPHA:244
HP:0012758	Neurodevelopmental delay	115399	LRRC56	ORPHA:244
HP:0012758	Neurodevelopmental delay	139212	DNAAF6	ORPHA:244
HP:0012758	Neurodevelopmental delay	123872	DNAAF1	ORPHA:244
HP:0012758	Neurodevelopmental delay	85016	CFAP300	ORPHA:244
HP:0012758	Neurodevelopmental delay	339829	CCDC39	ORPHA:244
HP:0012758	Neurodevelopmental delay	8701	DNAH11	ORPHA:244
HP:0012758	Neurodevelopmental delay	1770	DNAH9	ORPHA:244
HP:0012758	Neurodevelopmental delay	246176	GAS2L2	ORPHA:244
HP:0012758	Neurodevelopmental delay	10262	SF3B4	ORPHA:245
HP:0012758	Neurodevelopmental delay	10262	SF3B4	OMIM:154400
HP:0012758	Neurodevelopmental delay	2742	GLRA2	OMIM:301076
HP:0012758	Neurodevelopmental delay	9896	FIG4	ORPHA:208441
HP:0012758	Neurodevelopmental delay	26100	WIPI2	OMIM:618453
HP:0012758	Neurodevelopmental delay	8295	TRRAP	OMIM:618454
HP:0012758	Neurodevelopmental delay	8621	CDK13	OMIM:617360
HP:0012758	Neurodevelopmental delay	5256	PHKA2	ORPHA:264580
HP:0012758	Neurodevelopmental delay	5261	PHKG2	ORPHA:264580
HP:0012758	Neurodevelopmental delay	5587	PRKD1	OMIM:617364
HP:0012758	Neurodevelopmental delay	27133	KCNH5	OMIM:620537
HP:0012758	Neurodevelopmental delay	221078	NSUN6	OMIM:620779
HP:0012758	Neurodevelopmental delay	27145	FILIP1	OMIM:620775
HP:0012758	Neurodevelopmental delay	140679	SLC32A1	OMIM:620774
HP:0012758	Neurodevelopmental delay	8905	AP1S2	OMIM:304340
HP:0012758	Neurodevelopmental delay	78987	CRELD1	OMIM:620771
HP:0012758	Neurodevelopmental delay	54808	DYM	ORPHA:239
HP:0012758	Neurodevelopmental delay	55217	TMLHE	OMIM:300872
HP:0012758	Neurodevelopmental delay	5898	RALA	OMIM:619311
HP:0012758	Neurodevelopmental delay	9759	HDAC4	OMIM:619797
HP:0012758	Neurodevelopmental delay	9759	HDAC4	OMIM:600430
HP:0012758	Neurodevelopmental delay	30000	TNPO2	OMIM:619556
HP:0012758	Neurodevelopmental delay	6477	SIAH1	OMIM:619314
HP:0012758	Neurodevelopmental delay	57102	FERRY3	OMIM:618221
HP:0012758	Neurodevelopmental delay	51728	POLR3K	OMIM:619310
HP:0012758	Neurodevelopmental delay	83548	COG3	OMIM:620546
HP:0012758	Neurodevelopmental delay	55628	ZNF407	OMIM:619557
HP:0012758	Neurodevelopmental delay	11267	SNF8	OMIM:620784
HP:0012758	Neurodevelopmental delay	9256	TSPOAP1	ORPHA:101150
HP:0012758	Neurodevelopmental delay	84320	ACBD6	OMIM:620785
HP:0012758	Neurodevelopmental delay	4076	CAPRIN1	OMIM:620782
HP:0012758	Neurodevelopmental delay	56521	DNAJC12	OMIM:617384
HP:0012758	Neurodevelopmental delay	3714	JAG2	OMIM:619566
HP:0012758	Neurodevelopmental delay	10978	CLP1	ORPHA:411493
HP:0012758	Neurodevelopmental delay	23030	KDM4B	OMIM:619320
HP:0012758	Neurodevelopmental delay	443	ASPA	ORPHA:314918
HP:0012758	Neurodevelopmental delay	7453	WARS1	OMIM:620317
HP:0012758	Neurodevelopmental delay	5010	CLDN11	OMIM:619328
HP:0012758	Neurodevelopmental delay	6263	RYR3	OMIM:620310
HP:0012758	Neurodevelopmental delay	161725	OTUD7A	OMIM:620790
HP:0012758	Neurodevelopmental delay	1725	DHPS	OMIM:618480
HP:0012758	Neurodevelopmental delay	1741	DLG3	OMIM:300850
HP:0012758	Neurodevelopmental delay	57551	TAOK1	OMIM:619575
HP:0012758	Neurodevelopmental delay	25929	GEMIN5	OMIM:619333
HP:0012758	Neurodevelopmental delay	79641	ROGDI	OMIM:226750
HP:0012758	Neurodevelopmental delay	54496	PRMT7	OMIM:617157
HP:0012758	Neurodevelopmental delay	23476	BRD4	OMIM:620568
HP:0012758	Neurodevelopmental delay	84188	FAR1	OMIM:619338
HP:0012758	Neurodevelopmental delay	9969	MED13	OMIM:618009
HP:0012758	Neurodevelopmental delay	92344	GORAB	OMIM:231070
HP:0012758	Neurodevelopmental delay	4141	MARS1	OMIM:620323
HP:0012758	Neurodevelopmental delay	23203	PMPCA	OMIM:213200
HP:0012758	Neurodevelopmental delay	23203	PMPCA	ORPHA:1170
HP:0012758	Neurodevelopmental delay	23389	MED13L	ORPHA:369891
HP:0012758	Neurodevelopmental delay	2898	GRIK2	OMIM:619580
HP:0012758	Neurodevelopmental delay	1781	DYNC1I2	OMIM:618492
HP:0012758	Neurodevelopmental delay	7319	UBE2A	OMIM:300860
HP:0012758	Neurodevelopmental delay	9496	TBX4	ORPHA:261279
HP:0012758	Neurodevelopmental delay	8091	HMGA2	ORPHA:94063
HP:0012758	Neurodevelopmental delay	8091	HMGA2	ORPHA:397590
HP:0012758	Neurodevelopmental delay	8635	RNASET2	OMIM:612951
HP:0012758	Neurodevelopmental delay	91039	DPP9	OMIM:620331
HP:0012758	Neurodevelopmental delay	23594	ORC6	OMIM:613803
HP:0012758	Neurodevelopmental delay	1756	DMD	ORPHA:98896
HP:0012758	Neurodevelopmental delay	8425	LTBP4	ORPHA:98896
HP:0012758	Neurodevelopmental delay	64864	RFX7	OMIM:620330
HP:0012758	Neurodevelopmental delay	80185	TTI2	ORPHA:391307
HP:0012758	Neurodevelopmental delay	80185	TTI2	OMIM:615541
HP:0012758	Neurodevelopmental delay	2628	GATM	OMIM:612718
HP:0012758	Neurodevelopmental delay	10771	ZMYND11	OMIM:616083
HP:0012758	Neurodevelopmental delay	6611	SMS	ORPHA:3063
HP:0012758	Neurodevelopmental delay	5977	DPF2	OMIM:618027
HP:0012758	Neurodevelopmental delay	10847	SRCAP	OMIM:619595
HP:0012758	Neurodevelopmental delay	10847	SRCAP	ORPHA:2044
HP:0012758	Neurodevelopmental delay	10847	SRCAP	OMIM:136140
HP:0012758	Neurodevelopmental delay	55526	DHTKD1	OMIM:204750
HP:0012758	Neurodevelopmental delay	3839	KPNA3	OMIM:620106
HP:0012758	Neurodevelopmental delay	79005	SCNM1	OMIM:620107
HP:0012758	Neurodevelopmental delay	1605	DAG1	OMIM:613818
HP:0012758	Neurodevelopmental delay	84172	POLR1B	ORPHA:861
HP:0012758	Neurodevelopmental delay	9533	POLR1C	ORPHA:861
HP:0012758	Neurodevelopmental delay	6949	TCOF1	ORPHA:861
HP:0012758	Neurodevelopmental delay	55210	ATAD3A	OMIM:617183
HP:0012758	Neurodevelopmental delay	2077	ERF	OMIM:617180
HP:0012758	Neurodevelopmental delay	2077	ERF	OMIM:600775
HP:0012758	Neurodevelopmental delay	90522	YIF1B	OMIM:619125
HP:0012758	Neurodevelopmental delay	29123	ANKRD11	ORPHA:261250
HP:0012758	Neurodevelopmental delay	6197	RPS6KA3	OMIM:300844
HP:0012758	Neurodevelopmental delay	1200	TPP1	OMIM:204500
HP:0012758	Neurodevelopmental delay	118924	FRA10AC1	OMIM:620113
HP:0012758	Neurodevelopmental delay	2593	GAMT	OMIM:612736
HP:0012758	Neurodevelopmental delay	55252	ASXL2	OMIM:617190
HP:0012758	Neurodevelopmental delay	6904	TBCD	OMIM:617193
HP:0012758	Neurodevelopmental delay	3739	KCNA4	OMIM:618284
HP:0012758	Neurodevelopmental delay	23154	NCDN	OMIM:619373
HP:0012758	Neurodevelopmental delay	4781	NFIB	OMIM:618286
HP:0012758	Neurodevelopmental delay	55074	OXR1	OMIM:213000
HP:0012758	Neurodevelopmental delay	11011	TLK2	OMIM:618050
HP:0012758	Neurodevelopmental delay	27161	AGO2	OMIM:619149
HP:0012758	Neurodevelopmental delay	8665	EIF3F	OMIM:618295
HP:0012758	Neurodevelopmental delay	221927	BRAT1	OMIM:618056
HP:0012758	Neurodevelopmental delay	267	AMFR	OMIM:620379
HP:0012758	Neurodevelopmental delay	161742	SPRED1	ORPHA:137605
HP:0012758	Neurodevelopmental delay	64858	DCLRE1B	OMIM:620133
HP:0012758	Neurodevelopmental delay	3480	IGF1R	OMIM:270450
HP:0012758	Neurodevelopmental delay	9325	TRIP4	ORPHA:486815
HP:0012758	Neurodevelopmental delay	90952	ESAM	OMIM:620371
HP:0012758	Neurodevelopmental delay	11113	CIT	OMIM:617090
HP:0012758	Neurodevelopmental delay	4702	NDUFA8	OMIM:619272
HP:0012758	Neurodevelopmental delay	27183	VPS4A	OMIM:619273
HP:0012758	Neurodevelopmental delay	10128	LRPPRC	OMIM:220111
HP:0012758	Neurodevelopmental delay	158	ADSL	OMIM:103050
HP:0012758	Neurodevelopmental delay	375	ARF1	OMIM:618185
HP:0012758	Neurodevelopmental delay	23019	CNOT1	OMIM:619033
HP:0012758	Neurodevelopmental delay	55503	TRPV6	OMIM:618188
HP:0012758	Neurodevelopmental delay	775	CACNA1C	OMIM:620029
HP:0012758	Neurodevelopmental delay	7109	TRAPPC10	OMIM:620027
HP:0012758	Neurodevelopmental delay	55777	MBD5	ORPHA:228402
HP:0012758	Neurodevelopmental delay	132158	GLYCTK	ORPHA:941
HP:0012758	Neurodevelopmental delay	9442	MED27	OMIM:619286
HP:0012758	Neurodevelopmental delay	4649	MYO9A	OMIM:618198
HP:0012758	Neurodevelopmental delay	25914	RTTN	OMIM:614833
HP:0012758	Neurodevelopmental delay	25782	RAB3GAP2	OMIM:212720
HP:0012758	Neurodevelopmental delay	6595	SMARCA2	OMIM:619293
HP:0012758	Neurodevelopmental delay	7102	TSPAN7	OMIM:300210
HP:0012758	Neurodevelopmental delay	57492	ARID1B	OMIM:135900
HP:0012758	Neurodevelopmental delay	116228	COX20	OMIM:619054
HP:0012758	Neurodevelopmental delay	26277	TINF2	OMIM:613990
HP:0012758	Neurodevelopmental delay	9739	SETD1A	OMIM:619056
HP:0012758	Neurodevelopmental delay	340024	SLC6A19	OMIM:234500
HP:0012758	Neurodevelopmental delay	8289	ARID1A	OMIM:614607
HP:0012758	Neurodevelopmental delay	158326	FREM1	ORPHA:3366
HP:0012758	Neurodevelopmental delay	10716	TBR1	OMIM:606053
HP:0012758	Neurodevelopmental delay	26523	AGO1	OMIM:620292
HP:0012758	Neurodevelopmental delay	4697	NDUFA4	OMIM:619065
HP:0012758	Neurodevelopmental delay	79813	EHMT1	OMIM:610253
HP:0012758	Neurodevelopmental delay	79813	EHMT1	ORPHA:261652
HP:0012758	Neurodevelopmental delay	5144	PDE4D	OMIM:614613
HP:0012758	Neurodevelopmental delay	10382	TUBB4A	OMIM:612438
HP:0012758	Neurodevelopmental delay	5230	PGK1	ORPHA:713
HP:0012758	Neurodevelopmental delay	5230	PGK1	OMIM:300653
HP:0012758	Neurodevelopmental delay	7915	ALDH5A1	OMIM:271980
HP:0012758	Neurodevelopmental delay	2697	GJA1	OMIM:257850
HP:0012758	Neurodevelopmental delay	2615	LRRC32	OMIM:619074
HP:0012758	Neurodevelopmental delay	4953	ODC1	OMIM:619075
HP:0012758	Neurodevelopmental delay	9289	ADGRG1	ORPHA:98889
HP:0012758	Neurodevelopmental delay	5297	PI4KA	ORPHA:98889
HP:0012758	Neurodevelopmental delay	5297	PI4KA	OMIM:619708
HP:0012758	Neurodevelopmental delay	22859	ADGRL1	OMIM:620065
HP:0012758	Neurodevelopmental delay	6558	SLC12A2	OMIM:619083
HP:0012758	Neurodevelopmental delay	58508	KMT2C	ORPHA:261652
HP:0012758	Neurodevelopmental delay	58508	KMT2C	OMIM:617768
HP:0012758	Neurodevelopmental delay	5594	MAPK1	OMIM:619087
HP:0012758	Neurodevelopmental delay	3481	IGF2	ORPHA:397590
HP:0012758	Neurodevelopmental delay	1028	CDKN1C	ORPHA:397590
HP:0012758	Neurodevelopmental delay	5324	PLAG1	ORPHA:397590
HP:0012758	Neurodevelopmental delay	284217	LAMA1	OMIM:615960
HP:0012758	Neurodevelopmental delay	284217	LAMA1	ORPHA:370022
HP:0012758	Neurodevelopmental delay	286262	TPRN	OMIM:613307
HP:0012758	Neurodevelopmental delay	51244	CCDC174	OMIM:616816
HP:0012758	Neurodevelopmental delay	54862	CC2D1A	OMIM:608443
HP:0012758	Neurodevelopmental delay	23065	EMC1	ORPHA:480898
HP:0012758	Neurodevelopmental delay	23065	EMC1	OMIM:616875
HP:0012758	Neurodevelopmental delay	10430	TMEM147	OMIM:620075
HP:0012758	Neurodevelopmental delay	11152	WDR45	OMIM:300894
HP:0012758	Neurodevelopmental delay	22880	MORC2	OMIM:619090
HP:0012758	Neurodevelopmental delay	4677	NARS1	OMIM:619091
HP:0012758	Neurodevelopmental delay	4677	NARS1	OMIM:619092
HP:0012758	Neurodevelopmental delay	50484	RRM2B	OMIM:268315
HP:0012758	Neurodevelopmental delay	254065	BRWD3	OMIM:300659
HP:0012758	Neurodevelopmental delay	9147	NEMF	OMIM:619099
HP:0012758	Neurodevelopmental delay	26047	CNTNAP2	OMIM:610042
HP:0012758	Neurodevelopmental delay	26047	CNTNAP2	ORPHA:163681
HP:0012758	Neurodevelopmental delay	1384	CRAT	OMIM:617917
HP:0012758	Neurodevelopmental delay	85021	REPS1	OMIM:617916
HP:0012758	Neurodevelopmental delay	1487	CTBP1	OMIM:617915
HP:0012758	Neurodevelopmental delay	197322	ACSF3	ORPHA:289504
HP:0012758	Neurodevelopmental delay	54413	NLGN3	OMIM:300425
HP:0012758	Neurodevelopmental delay	9775	EIF4A3	OMIM:268305
HP:0012758	Neurodevelopmental delay	93183	PIGM	OMIM:610293
HP:0012758	Neurodevelopmental delay	2703	GJA8	OMIM:612474
HP:0012758	Neurodevelopmental delay	2702	GJA5	OMIM:612474
HP:0012758	Neurodevelopmental delay	29072	SETD2	OMIM:616831
HP:0012758	Neurodevelopmental delay	3897	L1CAM	ORPHA:2466
HP:0012758	Neurodevelopmental delay	51053	GMNN	OMIM:616835
HP:0012758	Neurodevelopmental delay	2719	GPC3	OMIM:312870
HP:0012758	Neurodevelopmental delay	2239	GPC4	OMIM:312870
HP:0012758	Neurodevelopmental delay	27152	INTU	OMIM:617926
HP:0012758	Neurodevelopmental delay	274	BIN1	ORPHA:169186
HP:0012758	Neurodevelopmental delay	10290	SPEG	ORPHA:169186
HP:0012758	Neurodevelopmental delay	6261	RYR1	ORPHA:169186
HP:0012758	Neurodevelopmental delay	7273	TTN	ORPHA:169186
HP:0012758	Neurodevelopmental delay	9158	FIBP	ORPHA:500095
HP:0012758	Neurodevelopmental delay	4683	NBN	OMIM:251260
HP:0012758	Neurodevelopmental delay	9698	PUM1	OMIM:617931
HP:0012758	Neurodevelopmental delay	29926	GMPPA	OMIM:615510
HP:0012758	Neurodevelopmental delay	85358	SHANK3	OMIM:606232
HP:0012758	Neurodevelopmental delay	658	BMPR1B	OMIM:616849
HP:0012758	Neurodevelopmental delay	57511	COG6	ORPHA:363523
HP:0012758	Neurodevelopmental delay	57511	COG6	OMIM:615328
HP:0012758	Neurodevelopmental delay	113179	ADAT3	ORPHA:363528
HP:0012758	Neurodevelopmental delay	55784	MCTP2	ORPHA:1596
HP:0012758	Neurodevelopmental delay	5831	PYCR1	OMIM:614438
HP:0012758	Neurodevelopmental delay	3736	KCNA1	ORPHA:37612
HP:0012758	Neurodevelopmental delay	26224	FBXL3	OMIM:606220
HP:0012758	Neurodevelopmental delay	4204	MECP2	OMIM:300055
HP:0012758	Neurodevelopmental delay	4204	MECP2	OMIM:300496
HP:0012758	Neurodevelopmental delay	10484	SEC23A	ORPHA:50814
HP:0012758	Neurodevelopmental delay	7874	USP7	OMIM:616863
HP:0012758	Neurodevelopmental delay	7874	USP7	ORPHA:500055
HP:0012758	Neurodevelopmental delay	55603	TENT5A	OMIM:617952
HP:0012758	Neurodevelopmental delay	26007	TKFC	OMIM:618805
HP:0012758	Neurodevelopmental delay	27315	PGAP2	OMIM:614207
HP:0012758	Neurodevelopmental delay	64131	XYLT1	OMIM:615777
HP:0012758	Neurodevelopmental delay	5257	PHKB	ORPHA:79240
HP:0012758	Neurodevelopmental delay	128989	TANGO2	ORPHA:480864
HP:0012758	Neurodevelopmental delay	5718	PSMD12	ORPHA:529962
HP:0012758	Neurodevelopmental delay	5718	PSMD12	OMIM:617516
HP:0012758	Neurodevelopmental delay	2186	BPTF	ORPHA:529962
HP:0012758	Neurodevelopmental delay	2186	BPTF	OMIM:617755
HP:0012758	Neurodevelopmental delay	54664	TMEM106B	OMIM:617964
HP:0012758	Neurodevelopmental delay	4287	ATXN3	ORPHA:276238
HP:0012758	Neurodevelopmental delay	4287	ATXN3	ORPHA:276244
HP:0012758	Neurodevelopmental delay	4287	ATXN3	ORPHA:276241
HP:0012758	Neurodevelopmental delay	27010	TPK1	OMIM:614458
HP:0012758	Neurodevelopmental delay	55644	OSGEP	OMIM:617729
HP:0012758	Neurodevelopmental delay	57572	DOCK6	OMIM:614219
HP:0012758	Neurodevelopmental delay	54658	UGT1A1	ORPHA:79234
HP:0012758	Neurodevelopmental delay	7074	TIAM1	OMIM:619908
HP:0012758	Neurodevelopmental delay	2464	FRA16E	OMIM:136570
HP:0012758	Neurodevelopmental delay	112858	TP53RK	OMIM:617730
HP:0012758	Neurodevelopmental delay	2737	GLI3	OMIM:175700
HP:0012758	Neurodevelopmental delay	1778	DYNC1H1	OMIM:614228
HP:0012758	Neurodevelopmental delay	4929	NR4A2	OMIM:619911
HP:0012758	Neurodevelopmental delay	285175	UNC80	ORPHA:371364
HP:0012758	Neurodevelopmental delay	8405	SPOP	OMIM:618828
HP:0012758	Neurodevelopmental delay	8405	SPOP	OMIM:618829
HP:0012758	Neurodevelopmental delay	26576	SRPK3	OMIM:301134
HP:0012758	Neurodevelopmental delay	10585	POMT1	ORPHA:86812
HP:0012758	Neurodevelopmental delay	54870	QRICH1	OMIM:617982
HP:0012758	Neurodevelopmental delay	4780	NFE2L2	OMIM:617744
HP:0012758	Neurodevelopmental delay	2890	GRIA1	OMIM:619927
HP:0012758	Neurodevelopmental delay	54805	CNNM2	OMIM:616418
HP:0012758	Neurodevelopmental delay	5500	PPP1CB	OMIM:617506
HP:0012758	Neurodevelopmental delay	7291	TWIST1	OMIM:617746
HP:0012758	Neurodevelopmental delay	126792	B3GALT6	ORPHA:536467
HP:0012758	Neurodevelopmental delay	57502	NLGN4X	OMIM:300495
HP:0012758	Neurodevelopmental delay	4047	LSS	OMIM:618840
HP:0012758	Neurodevelopmental delay	9320	TRIP12	OMIM:617752
HP:0012758	Neurodevelopmental delay	529	ATP6V1E1	ORPHA:357074
HP:0012758	Neurodevelopmental delay	84631	SLITRK2	OMIM:301107
HP:0012758	Neurodevelopmental delay	51780	KDM3B	OMIM:618846
HP:0012758	Neurodevelopmental delay	8575	PRKRA	OMIM:612067
HP:0012758	Neurodevelopmental delay	5455	POU3F3	OMIM:618604
HP:0012758	Neurodevelopmental delay	119559	SFXN4	OMIM:615578
HP:0012758	Neurodevelopmental delay	9439	MED23	OMIM:614249
HP:0012758	Neurodevelopmental delay	4848	CNOT2	OMIM:618608
HP:0012758	Neurodevelopmental delay	1807	DPYS	OMIM:222748
HP:0012758	Neurodevelopmental delay	2639	GCDH	OMIM:231670
HP:0012758	Neurodevelopmental delay	9203	ZMYM3	OMIM:301111
HP:0012758	Neurodevelopmental delay	23133	PHF8	OMIM:300263
HP:0012758	Neurodevelopmental delay	84706	GPT2	ORPHA:477673
HP:0012758	Neurodevelopmental delay	23404	EXOSC2	OMIM:617763
HP:0012758	Neurodevelopmental delay	1478	CSTF2	OMIM:301116
HP:0012758	Neurodevelopmental delay	22978	NT5C2	OMIM:613162
HP:0012758	Neurodevelopmental delay	7543	ZFX	OMIM:301118
HP:0012758	Neurodevelopmental delay	8738	CRADD	OMIM:614499
HP:0012758	Neurodevelopmental delay	4858	NOVA2	OMIM:618859
HP:0012758	Neurodevelopmental delay	9181	ARHGEF2	OMIM:617523
HP:0012758	Neurodevelopmental delay	547	KIF1A	OMIM:614255
HP:0012758	Neurodevelopmental delay	2582	GALE	OMIM:230350
HP:0012758	Neurodevelopmental delay	1718	DHCR24	OMIM:602398
HP:0012758	Neurodevelopmental delay	4524	MTHFR	ORPHA:395
HP:0012758	Neurodevelopmental delay	4524	MTHFR	OMIM:236250
HP:0012758	Neurodevelopmental delay	51399	TRAPPC4	OMIM:618741
HP:0012758	Neurodevelopmental delay	1139	CHRNA7	ORPHA:199318
HP:0012758	Neurodevelopmental delay	2304	FOXE1	OMIM:241850
HP:0012758	Neurodevelopmental delay	2304	FOXE1	ORPHA:95713
HP:0012758	Neurodevelopmental delay	10059	DNM1L	OMIM:614388
HP:0012758	Neurodevelopmental delay	10059	DNM1L	ORPHA:330050
HP:0012758	Neurodevelopmental delay	10059	DNM1L	ORPHA:98673
HP:0012758	Neurodevelopmental delay	7021	TFAP2B	OMIM:169100
HP:0012758	Neurodevelopmental delay	7021	TFAP2B	ORPHA:46627
HP:0012758	Neurodevelopmental delay	2261	FGFR3	ORPHA:53271
HP:0012758	Neurodevelopmental delay	2261	FGFR3	ORPHA:2363
HP:0012758	Neurodevelopmental delay	2261	FGFR3	OMIM:616482
HP:0012758	Neurodevelopmental delay	2261	FGFR3	OMIM:187600
HP:0012758	Neurodevelopmental delay	2261	FGFR3	OMIM:602849
HP:0012758	Neurodevelopmental delay	2261	FGFR3	OMIM:610474
HP:0012758	Neurodevelopmental delay	2317	FLNB	ORPHA:56305
HP:0012758	Neurodevelopmental delay	1729	DIAPH1	ORPHA:477814
HP:0012758	Neurodevelopmental delay	1729	DIAPH1	OMIM:616632
HP:0012758	Neurodevelopmental delay	2073	ERCC5	OMIM:616570
HP:0012758	Neurodevelopmental delay	2073	ERCC5	ORPHA:220295
HP:0012758	Neurodevelopmental delay	2073	ERCC5	OMIM:278780
HP:0012758	Neurodevelopmental delay	6729	SRP54	OMIM:618752
HP:0012758	Neurodevelopmental delay	6729	SRP54	OMIM:260400
HP:0012758	Neurodevelopmental delay	23322	RPGRIP1L	ORPHA:220497
HP:0012758	Neurodevelopmental delay	23322	RPGRIP1L	OMIM:619113
HP:0012758	Neurodevelopmental delay	23322	RPGRIP1L	OMIM:611560
HP:0012758	Neurodevelopmental delay	65062	TMEM237	ORPHA:220497
HP:0012758	Neurodevelopmental delay	65062	TMEM237	ORPHA:2318
HP:0012758	Neurodevelopmental delay	65062	TMEM237	ORPHA:475
HP:0012758	Neurodevelopmental delay	65062	TMEM237	OMIM:614424
HP:0012758	Neurodevelopmental delay	2137	EXTL3	OMIM:617425
HP:0012758	Neurodevelopmental delay	2137	EXTL3	ORPHA:508533
HP:0012758	Neurodevelopmental delay	166378	AFG2A	OMIM:616577
HP:0012758	Neurodevelopmental delay	166378	AFG2A	ORPHA:457351
HP:0012758	Neurodevelopmental delay	5184	PEPD	OMIM:170100
HP:0012758	Neurodevelopmental delay	54806	AHI1	ORPHA:220493
HP:0012758	Neurodevelopmental delay	54806	AHI1	ORPHA:475
HP:0012758	Neurodevelopmental delay	153241	CEP120	ORPHA:220493
HP:0012758	Neurodevelopmental delay	153241	CEP120	OMIM:617761
HP:0012758	Neurodevelopmental delay	153241	CEP120	ORPHA:475
HP:0012758	Neurodevelopmental delay	95681	CEP41	ORPHA:220493
HP:0012758	Neurodevelopmental delay	95681	CEP41	ORPHA:475
HP:0012758	Neurodevelopmental delay	95681	CEP41	OMIM:614464
HP:0012758	Neurodevelopmental delay	84197	POMK	OMIM:615249
HP:0012758	Neurodevelopmental delay	84197	POMK	ORPHA:370959
HP:0012758	Neurodevelopmental delay	84197	POMK	ORPHA:899
HP:0012758	Neurodevelopmental delay	84520	GON7	OMIM:619603
HP:0012758	Neurodevelopmental delay	84520	GON7	ORPHA:2065
HP:0012758	Neurodevelopmental delay	55768	NGLY1	ORPHA:404454
HP:0012758	Neurodevelopmental delay	55768	NGLY1	OMIM:615273
HP:0012758	Neurodevelopmental delay	79158	GNPTAB	OMIM:252500
HP:0012758	Neurodevelopmental delay	79158	GNPTAB	OMIM:252600
HP:0012758	Neurodevelopmental delay	3190	HNRNPK	OMIM:616580
HP:0012758	Neurodevelopmental delay	317662	FAM149B1	OMIM:618763
HP:0012758	Neurodevelopmental delay	317662	FAM149B1	ORPHA:2754
HP:0012758	Neurodevelopmental delay	6884	TAF13	OMIM:617432
HP:0012758	Neurodevelopmental delay	6884	TAF13	ORPHA:2512
HP:0012758	Neurodevelopmental delay	2671	GFER	OMIM:613076
HP:0012758	Neurodevelopmental delay	2671	GFER	ORPHA:330054
HP:0012758	Neurodevelopmental delay	6844	VAMP2	OMIM:618760
HP:0012758	Neurodevelopmental delay	79029	AFG2B	OMIM:619616
HP:0012758	Neurodevelopmental delay	79029	AFG2B	OMIM:619615
HP:0012758	Neurodevelopmental delay	54880	BCOR	ORPHA:2712
HP:0012758	Neurodevelopmental delay	6573	SLC19A1	OMIM:620603
HP:0012758	Neurodevelopmental delay	3064	HTT	OMIM:617435
HP:0012758	Neurodevelopmental delay	55681	SCYL2	OMIM:618766
HP:0012758	Neurodevelopmental delay	51109	RDH11	OMIM:616108
HP:0012758	Neurodevelopmental delay	51109	RDH11	ORPHA:436245
HP:0012758	Neurodevelopmental delay	790955	UQCC3	OMIM:616111
HP:0012758	Neurodevelopmental delay	5376	PMP22	ORPHA:90658
HP:0012758	Neurodevelopmental delay	89910	UBE3B	ORPHA:2707
HP:0012758	Neurodevelopmental delay	54	ACP5	ORPHA:1855
HP:0012758	Neurodevelopmental delay	54	ACP5	OMIM:607944
HP:0012758	Neurodevelopmental delay	63901	FAM111A	OMIM:602361
HP:0012758	Neurodevelopmental delay	1499	CTNNB1	ORPHA:54595
HP:0012758	Neurodevelopmental delay	1499	CTNNB1	OMIM:615075
HP:0012758	Neurodevelopmental delay	54345	SOX18	OMIM:137940
HP:0012758	Neurodevelopmental delay	2746	GLUD1	ORPHA:35878
HP:0012758	Neurodevelopmental delay	5034	P4HB	OMIM:112240
HP:0012758	Neurodevelopmental delay	5034	P4HB	ORPHA:2050
HP:0012758	Neurodevelopmental delay	23512	SUZ12	OMIM:618786
HP:0012758	Neurodevelopmental delay	23512	SUZ12	ORPHA:3447
HP:0012758	Neurodevelopmental delay	5604	MAP2K1	OMIM:615279
HP:0012758	Neurodevelopmental delay	5604	MAP2K1	ORPHA:1340
HP:0012758	Neurodevelopmental delay	2517	FUCA1	ORPHA:349
HP:0012758	Neurodevelopmental delay	2517	FUCA1	OMIM:230000
HP:0012758	Neurodevelopmental delay	4598	MVK	ORPHA:343
HP:0012758	Neurodevelopmental delay	4598	MVK	ORPHA:29
HP:0012758	Neurodevelopmental delay	4598	MVK	OMIM:610377
HP:0012758	Neurodevelopmental delay	5727	PTCH1	OMIM:610828
HP:0012758	Neurodevelopmental delay	5727	PTCH1	ORPHA:77301
HP:0012758	Neurodevelopmental delay	2736	GLI2	OMIM:610829
HP:0012758	Neurodevelopmental delay	2736	GLI2	OMIM:615849
HP:0012758	Neurodevelopmental delay	5605	MAP2K2	OMIM:615280
HP:0012758	Neurodevelopmental delay	5605	MAP2K2	ORPHA:1340
HP:0012758	Neurodevelopmental delay	54828	BCAS3	OMIM:619641
HP:0012758	Neurodevelopmental delay	3800	KIF5C	OMIM:615282
HP:0012758	Neurodevelopmental delay	57169	ZNFX1	OMIM:619644
HP:0012758	Neurodevelopmental delay	11041	B4GAT1	OMIM:615287
HP:0012758	Neurodevelopmental delay	11041	B4GAT1	ORPHA:899
HP:0012758	Neurodevelopmental delay	11311	VPS45	OMIM:615285
HP:0012758	Neurodevelopmental delay	50485	SMARCAL1	ORPHA:1830
HP:0012758	Neurodevelopmental delay	50485	SMARCAL1	OMIM:242900
HP:0012758	Neurodevelopmental delay	2904	GRIN2B	OMIM:616139
HP:0012758	Neurodevelopmental delay	2904	GRIN2B	OMIM:613970
HP:0012758	Neurodevelopmental delay	2263	FGFR2	OMIM:123790
HP:0012758	Neurodevelopmental delay	2263	FGFR2	ORPHA:93259
HP:0012758	Neurodevelopmental delay	2263	FGFR2	ORPHA:2363
HP:0012758	Neurodevelopmental delay	476	ATP1A1	OMIM:618314
HP:0012758	Neurodevelopmental delay	476	ATP1A1	ORPHA:564178
HP:0012758	Neurodevelopmental delay	55072	RNF31	OMIM:620632
HP:0012758	Neurodevelopmental delay	6901	TAFAZZIN	OMIM:302060
HP:0012758	Neurodevelopmental delay	10667	FARS2	ORPHA:466722
HP:0012758	Neurodevelopmental delay	57688	ZSWIM6	OMIM:603671
HP:0012758	Neurodevelopmental delay	57688	ZSWIM6	ORPHA:1827
HP:0012758	Neurodevelopmental delay	57688	ZSWIM6	OMIM:617865
HP:0012758	Neurodevelopmental delay	57609	DIP2B	OMIM:136630
HP:0012758	Neurodevelopmental delay	4000	LMNA	ORPHA:157973
HP:0012758	Neurodevelopmental delay	5917	RARS1	OMIM:616140
HP:0012758	Neurodevelopmental delay	5917	RARS1	ORPHA:438114
HP:0012758	Neurodevelopmental delay	197258	FCSK	OMIM:618324
HP:0012758	Neurodevelopmental delay	23483	TGDS	OMIM:616145
HP:0012758	Neurodevelopmental delay	6603	SMARCD2	OMIM:617475
HP:0012758	Neurodevelopmental delay	125988	MICOS13	OMIM:618329
HP:0012758	Neurodevelopmental delay	54148	MRPL39	OMIM:620646
HP:0012758	Neurodevelopmental delay	4087	SMAD2	OMIM:619657
HP:0012758	Neurodevelopmental delay	5910	RAP1GDS1	OMIM:620655
HP:0012758	Neurodevelopmental delay	7873	MANF	OMIM:620651
HP:0012758	Neurodevelopmental delay	58	ACTA1	ORPHA:97240
HP:0012758	Neurodevelopmental delay	58	ACTA1	ORPHA:97244
HP:0012758	Neurodevelopmental delay	4921	DDR2	OMIM:271665
HP:0012758	Neurodevelopmental delay	57190	SELENON	ORPHA:97244
HP:0012758	Neurodevelopmental delay	6448	SGSH	OMIM:252900
HP:0012758	Neurodevelopmental delay	8925	HERC1	OMIM:617011
HP:0012758	Neurodevelopmental delay	8925	HERC1	ORPHA:457359
HP:0012758	Neurodevelopmental delay	2775	GNAO1	OMIM:617493
HP:0012758	Neurodevelopmental delay	2775	GNAO1	ORPHA:1934
HP:0012758	Neurodevelopmental delay	2775	GNAO1	OMIM:615473
HP:0012758	Neurodevelopmental delay	23516	SLC39A14	OMIM:617013
HP:0012758	Neurodevelopmental delay	23516	SLC39A14	ORPHA:521406
HP:0012758	Neurodevelopmental delay	10564	ARFGEF2	OMIM:608097
HP:0012758	Neurodevelopmental delay	8573	CASK	OMIM:300749
HP:0012758	Neurodevelopmental delay	8573	CASK	ORPHA:1934
HP:0012758	Neurodevelopmental delay	8573	CASK	OMIM:300422
HP:0012758	Neurodevelopmental delay	55746	NUP133	OMIM:618349
HP:0012758	Neurodevelopmental delay	55746	NUP133	ORPHA:2065
HP:0012758	Neurodevelopmental delay	51259	TMEM216	OMIM:608091
HP:0012758	Neurodevelopmental delay	51259	TMEM216	ORPHA:2318
HP:0012758	Neurodevelopmental delay	51259	TMEM216	ORPHA:2754
HP:0012758	Neurodevelopmental delay	959	CD40LG	OMIM:308230
HP:0012758	Neurodevelopmental delay	1950	EGF	OMIM:611718
HP:0012758	Neurodevelopmental delay	5095	PCCA	ORPHA:35
HP:0012758	Neurodevelopmental delay	5095	PCCA	OMIM:606054
HP:0012758	Neurodevelopmental delay	5096	PCCB	ORPHA:35
HP:0012758	Neurodevelopmental delay	5096	PCCB	OMIM:606054
HP:0012758	Neurodevelopmental delay	56945	MRPS22	OMIM:611719
HP:0012758	Neurodevelopmental delay	27125	AFF4	ORPHA:444077
HP:0012758	Neurodevelopmental delay	27125	AFF4	OMIM:616368
HP:0012758	Neurodevelopmental delay	6888	TALDO1	ORPHA:101028
HP:0012758	Neurodevelopmental delay	7372	UMPS	ORPHA:30
HP:0012758	Neurodevelopmental delay	7372	UMPS	OMIM:258900
HP:0012758	Neurodevelopmental delay	10733	PLK4	OMIM:616171
HP:0012758	Neurodevelopmental delay	11277	TREX1	OMIM:225750
HP:0012758	Neurodevelopmental delay	11277	TREX1	ORPHA:51
HP:0012758	Neurodevelopmental delay	23114	NFASC	OMIM:618356
HP:0012758	Neurodevelopmental delay	5610	EIF2AK2	OMIM:619687
HP:0012758	Neurodevelopmental delay	25885	POLR1A	OMIM:620675
HP:0012758	Neurodevelopmental delay	25885	POLR1A	OMIM:616462
HP:0012758	Neurodevelopmental delay	29925	GMPPB	ORPHA:370968
HP:0012758	Neurodevelopmental delay	29925	GMPPB	ORPHA:370959
HP:0012758	Neurodevelopmental delay	29925	GMPPB	ORPHA:363623
HP:0012758	Neurodevelopmental delay	29925	GMPPB	OMIM:615350
HP:0012758	Neurodevelopmental delay	29925	GMPPB	OMIM:615351
HP:0012758	Neurodevelopmental delay	79147	FKRP	ORPHA:370968
HP:0012758	Neurodevelopmental delay	79147	FKRP	ORPHA:370959
HP:0012758	Neurodevelopmental delay	79147	FKRP	OMIM:236670
HP:0012758	Neurodevelopmental delay	79147	FKRP	ORPHA:899
HP:0012758	Neurodevelopmental delay	29954	POMT2	ORPHA:370968
HP:0012758	Neurodevelopmental delay	29954	POMT2	ORPHA:370959
HP:0012758	Neurodevelopmental delay	29954	POMT2	ORPHA:206559
HP:0012758	Neurodevelopmental delay	29954	POMT2	OMIM:236670
HP:0012758	Neurodevelopmental delay	29954	POMT2	ORPHA:899
HP:0012758	Neurodevelopmental delay	9215	LARGE1	ORPHA:370968
HP:0012758	Neurodevelopmental delay	9215	LARGE1	OMIM:608840
HP:0012758	Neurodevelopmental delay	9215	LARGE1	OMIM:236670
HP:0012758	Neurodevelopmental delay	9215	LARGE1	ORPHA:899
HP:0012758	Neurodevelopmental delay	9215	LARGE1	OMIM:613154
HP:0012758	Neurodevelopmental delay	427	ASAH1	ORPHA:333
HP:0012758	Neurodevelopmental delay	79709	COLGALT1	OMIM:618360
HP:0012758	Neurodevelopmental delay	347733	TUBB2B	ORPHA:467166
HP:0012758	Neurodevelopmental delay	347733	TUBB2B	ORPHA:300573
HP:0012758	Neurodevelopmental delay	347733	TUBB2B	OMIM:610031
HP:0012758	Neurodevelopmental delay	7846	TUBA1A	ORPHA:467166
HP:0012758	Neurodevelopmental delay	7846	TUBA1A	OMIM:611603
HP:0012758	Neurodevelopmental delay	7846	TUBA1A	ORPHA:171680
HP:0012758	Neurodevelopmental delay	51434	ANAPC7	OMIM:619699
HP:0012758	Neurodevelopmental delay	84068	SLC10A7	OMIM:618363
HP:0012758	Neurodevelopmental delay	7468	NSD2	OMIM:619695
HP:0012758	Neurodevelopmental delay	7468	NSD2	OMIM:194190
HP:0012758	Neurodevelopmental delay	7468	NSD2	ORPHA:280
HP:0012758	Neurodevelopmental delay	3054	HCFC1	OMIM:309541
HP:0012758	Neurodevelopmental delay	201163	FLCN	OMIM:610883
HP:0012758	Neurodevelopmental delay	819	CAMLG	OMIM:620201
HP:0012758	Neurodevelopmental delay	11145	PLAAT3	OMIM:620683
HP:0012758	Neurodevelopmental delay	51608	GET4	OMIM:620200
HP:0012758	Neurodevelopmental delay	7703	PCGF2	OMIM:618371
HP:0012758	Neurodevelopmental delay	51324	SPG21	ORPHA:101001
HP:0012758	Neurodevelopmental delay	8802	SUCLG1	ORPHA:17
HP:0012758	Neurodevelopmental delay	8802	SUCLG1	OMIM:245400
HP:0012758	Neurodevelopmental delay	7174	TPP2	OMIM:619220
HP:0012758	Neurodevelopmental delay	4761	NEUROD2	OMIM:618374
HP:0012758	Neurodevelopmental delay	4761	NEUROD2	ORPHA:1934
HP:0012758	Neurodevelopmental delay	84705	GTPBP3	OMIM:616198
HP:0012758	Neurodevelopmental delay	84705	GTPBP3	ORPHA:444013
HP:0012758	Neurodevelopmental delay	51729	WBP11	OMIM:619227
HP:0012758	Neurodevelopmental delay	8883	NAE1	OMIM:620210
HP:0012758	Neurodevelopmental delay	55186	SLC25A36	OMIM:620211
HP:0012758	Neurodevelopmental delay	11285	B4GALT7	ORPHA:75496
HP:0012758	Neurodevelopmental delay	83480	PUS3	OMIM:617051
HP:0012758	Neurodevelopmental delay	83480	PUS3	ORPHA:488627
HP:0012758	Neurodevelopmental delay	65260	COA7	OMIM:618387
HP:0012758	Neurodevelopmental delay	54809	SAMD9	OMIM:617053
HP:0012758	Neurodevelopmental delay	134218	DNAJC21	OMIM:617052
HP:0012758	Neurodevelopmental delay	134218	DNAJC21	OMIM:260400
HP:0012758	Neurodevelopmental delay	31	ACACA	OMIM:613933
HP:0012758	Neurodevelopmental delay	215	ABCD1	ORPHA:369942
HP:0012758	Neurodevelopmental delay	10134	BCAP31	ORPHA:369942
HP:0012758	Neurodevelopmental delay	10134	BCAP31	OMIM:300475
HP:0012758	Neurodevelopmental delay	55624	POMGNT1	ORPHA:370959
HP:0012758	Neurodevelopmental delay	55624	POMGNT1	OMIM:253280
HP:0012758	Neurodevelopmental delay	55624	POMGNT1	ORPHA:899
HP:0012758	Neurodevelopmental delay	51360	MBTPS2	OMIM:308205
HP:0012758	Neurodevelopmental delay	51360	MBTPS2	ORPHA:85284
HP:0012758	Neurodevelopmental delay	8318	CDC45	OMIM:617063
HP:0012758	Neurodevelopmental delay	8318	CDC45	ORPHA:2554
HP:0012758	Neurodevelopmental delay	9326	ZNHIT3	OMIM:260565
HP:0012758	Neurodevelopmental delay	9326	ZNHIT3	ORPHA:2836
HP:0012758	Neurodevelopmental delay	55640	FLVCR2	OMIM:225790
HP:0012758	Neurodevelopmental delay	93587	TRMT10A	ORPHA:391408
HP:0012758	Neurodevelopmental delay	93587	TRMT10A	OMIM:616033
HP:0012758	Neurodevelopmental delay	84919	PPP1R15B	ORPHA:391408
HP:0012758	Neurodevelopmental delay	10551	AGR2	OMIM:620233
HP:0012758	Neurodevelopmental delay	55670	PEX26	ORPHA:772
HP:0012758	Neurodevelopmental delay	55670	PEX26	OMIM:614873
HP:0012758	Neurodevelopmental delay	5824	PEX19	ORPHA:772
HP:0012758	Neurodevelopmental delay	5824	PEX19	OMIM:614886
HP:0012758	Neurodevelopmental delay	5828	PEX2	ORPHA:772
HP:0012758	Neurodevelopmental delay	5828	PEX2	OMIM:614866
HP:0012758	Neurodevelopmental delay	5828	PEX2	OMIM:614867
HP:0012758	Neurodevelopmental delay	8504	PEX3	ORPHA:772
HP:0012758	Neurodevelopmental delay	8504	PEX3	OMIM:617370
HP:0012758	Neurodevelopmental delay	9409	PEX16	ORPHA:772
HP:0012758	Neurodevelopmental delay	9409	PEX16	OMIM:614877
HP:0012758	Neurodevelopmental delay	5190	PEX6	ORPHA:772
HP:0012758	Neurodevelopmental delay	5190	PEX6	OMIM:614863
HP:0012758	Neurodevelopmental delay	5190	PEX6	OMIM:616617
HP:0012758	Neurodevelopmental delay	8799	PEX11B	ORPHA:772
HP:0012758	Neurodevelopmental delay	5830	PEX5	ORPHA:772
HP:0012758	Neurodevelopmental delay	5830	PEX5	OMIM:616716
HP:0012758	Neurodevelopmental delay	5193	PEX12	ORPHA:772
HP:0012758	Neurodevelopmental delay	5193	PEX12	OMIM:266510
HP:0012758	Neurodevelopmental delay	5194	PEX13	ORPHA:772
HP:0012758	Neurodevelopmental delay	5194	PEX13	OMIM:614883
HP:0012758	Neurodevelopmental delay	5195	PEX14	ORPHA:772
HP:0012758	Neurodevelopmental delay	5192	PEX10	ORPHA:772
HP:0012758	Neurodevelopmental delay	5192	PEX10	ORPHA:247815
HP:0012758	Neurodevelopmental delay	5192	PEX10	OMIM:614871
HP:0012758	Neurodevelopmental delay	201595	STT3B	ORPHA:370924
HP:0012758	Neurodevelopmental delay	201595	STT3B	OMIM:615597
HP:0012758	Neurodevelopmental delay	6748	SSR4	ORPHA:370927
HP:0012758	Neurodevelopmental delay	6748	SSR4	OMIM:300934
HP:0012758	Neurodevelopmental delay	10084	PQBP1	OMIM:309500
HP:0012758	Neurodevelopmental delay	10084	PQBP1	ORPHA:93950
HP:0012758	Neurodevelopmental delay	10084	PQBP1	ORPHA:93945
HP:0012758	Neurodevelopmental delay	10084	PQBP1	ORPHA:93946
HP:0012758	Neurodevelopmental delay	10273	STUB1	ORPHA:412057
HP:0012758	Neurodevelopmental delay	3643	INSR	ORPHA:769
HP:0012758	Neurodevelopmental delay	3643	INSR	OMIM:262190
HP:0012758	Neurodevelopmental delay	138050	HGSNAT	OMIM:252930
HP:0012758	Neurodevelopmental delay	10020	GNE	ORPHA:3166
HP:0012758	Neurodevelopmental delay	10020	GNE	OMIM:269921
HP:0012758	Neurodevelopmental delay	7474	WNT5A	OMIM:180700
HP:0012758	Neurodevelopmental delay	7474	WNT5A	ORPHA:3107
HP:0012758	Neurodevelopmental delay	1855	DVL1	OMIM:180700
HP:0012758	Neurodevelopmental delay	1855	DVL1	OMIM:616331
HP:0012758	Neurodevelopmental delay	1855	DVL1	ORPHA:3107
HP:0012758	Neurodevelopmental delay	4860	PNP	ORPHA:760
HP:0012758	Neurodevelopmental delay	64802	NMNAT1	OMIM:619260
HP:0012758	Neurodevelopmental delay	64802	NMNAT1	ORPHA:65
HP:0012758	Neurodevelopmental delay	55181	SMG8	OMIM:619268
HP:0012758	Neurodevelopmental delay	56947	MFF	OMIM:617086
HP:0012758	Neurodevelopmental delay	27445	PCLO	OMIM:608027
HP:0012758	Neurodevelopmental delay	1373	CPS1	OMIM:237300
HP:0012758	Neurodevelopmental delay	25886	POC1A	OMIM:614813
HP:0012758	Neurodevelopmental delay	26146	TRAF3IP1	ORPHA:3156
HP:0012758	Neurodevelopmental delay	26146	TRAF3IP1	OMIM:616629
HP:0012758	Neurodevelopmental delay	9657	IQCB1	ORPHA:3156
HP:0012758	Neurodevelopmental delay	9657	IQCB1	ORPHA:65
HP:0012758	Neurodevelopmental delay	27130	INVS	ORPHA:3156
HP:0012758	Neurodevelopmental delay	261734	NPHP4	ORPHA:3156
HP:0012758	Neurodevelopmental delay	57728	WDR19	ORPHA:3156
HP:0012758	Neurodevelopmental delay	27031	NPHP3	ORPHA:3156
HP:0012758	Neurodevelopmental delay	22897	CEP164	ORPHA:3156
HP:0012758	Neurodevelopmental delay	22897	CEP164	OMIM:614845
HP:0012758	Neurodevelopmental delay	128674	PROKR2	ORPHA:3157
HP:0012758	Neurodevelopmental delay	128674	PROKR2	ORPHA:95496
HP:0012758	Neurodevelopmental delay	6657	SOX2	ORPHA:3157
HP:0012758	Neurodevelopmental delay	6657	SOX2	OMIM:206900
HP:0012758	Neurodevelopmental delay	6657	SOX2	ORPHA:77298
HP:0012758	Neurodevelopmental delay	6658	SOX3	ORPHA:3157
HP:0012758	Neurodevelopmental delay	6658	SOX3	OMIM:300123
HP:0012758	Neurodevelopmental delay	9915	ARNT2	ORPHA:3157
HP:0012758	Neurodevelopmental delay	5015	OTX2	ORPHA:3157
HP:0012758	Neurodevelopmental delay	5015	OTX2	OMIM:610125
HP:0012758	Neurodevelopmental delay	283450	HECTD4	OMIM:620250
HP:0012758	Neurodevelopmental delay	168667	BMPER	OMIM:608022
HP:0012758	Neurodevelopmental delay	64374	SIL1	OMIM:248800
HP:0012758	Neurodevelopmental delay	64374	SIL1	ORPHA:559
HP:0012758	Neurodevelopmental delay	2294	FOXF1	OMIM:265380
HP:0012758	Neurodevelopmental delay	6309	SC5D	ORPHA:46059
HP:0012758	Neurodevelopmental delay	26128	KIFBP	OMIM:609460
HP:0012758	Neurodevelopmental delay	5631	PRPS1	ORPHA:411543
HP:0012758	Neurodevelopmental delay	5631	PRPS1	OMIM:301835
HP:0012758	Neurodevelopmental delay	5631	PRPS1	OMIM:300661
HP:0012758	Neurodevelopmental delay	5885	RAD21	OMIM:614701
HP:0012758	Neurodevelopmental delay	25821	MTO1	OMIM:614702
HP:0012758	Neurodevelopmental delay	85300	ATCAY	ORPHA:94122
HP:0012758	Neurodevelopmental delay	85300	ATCAY	OMIM:601238
HP:0012758	Neurodevelopmental delay	613	BCR	ORPHA:261330
HP:0012758	Neurodevelopmental delay	1399	CRKL	ORPHA:261330
HP:0012758	Neurodevelopmental delay	6392	SDHD	OMIM:619167
HP:0012758	Neurodevelopmental delay	6392	SDHD	ORPHA:201
HP:0012758	Neurodevelopmental delay	1717	DHCR7	ORPHA:818
HP:0012758	Neurodevelopmental delay	1717	DHCR7	OMIM:270400
HP:0012758	Neurodevelopmental delay	5290	PIK3CA	ORPHA:99802
HP:0012758	Neurodevelopmental delay	5290	PIK3CA	ORPHA:201
HP:0012758	Neurodevelopmental delay	5290	PIK3CA	ORPHA:60040
HP:0012758	Neurodevelopmental delay	5290	PIK3CA	OMIM:602501
HP:0012758	Neurodevelopmental delay	2475	MTOR	ORPHA:99802
HP:0012758	Neurodevelopmental delay	2475	MTOR	ORPHA:457485
HP:0012758	Neurodevelopmental delay	10000	AKT3	ORPHA:99802
HP:0012758	Neurodevelopmental delay	150468	CKAP2L	ORPHA:3255
HP:0012758	Neurodevelopmental delay	26153	KIF26A	OMIM:620156
HP:0012758	Neurodevelopmental delay	1185	CLCN6	OMIM:619173
HP:0012758	Neurodevelopmental delay	4718	NDUFC2	OMIM:619170
HP:0012758	Neurodevelopmental delay	1272	CNTN1	OMIM:612540
HP:0012758	Neurodevelopmental delay	92579	G6PC3	OMIM:612541
HP:0012758	Neurodevelopmental delay	1801	DPH1	OMIM:616901
HP:0012758	Neurodevelopmental delay	1801	DPH1	ORPHA:459061
HP:0012758	Neurodevelopmental delay	412	STS	ORPHA:281090
HP:0012758	Neurodevelopmental delay	5080	PAX6	ORPHA:1065
HP:0012758	Neurodevelopmental delay	55858	TMEM165	OMIM:614727
HP:0012758	Neurodevelopmental delay	64087	MCCC2	OMIM:210210
HP:0012758	Neurodevelopmental delay	10459	MAD2L2	ORPHA:84
HP:0012758	Neurodevelopmental delay	7516	XRCC2	ORPHA:84
HP:0012758	Neurodevelopmental delay	29089	UBE2T	ORPHA:84
HP:0012758	Neurodevelopmental delay	675	BRCA2	ORPHA:84
HP:0012758	Neurodevelopmental delay	55120	FANCL	ORPHA:84
HP:0012758	Neurodevelopmental delay	55120	FANCL	OMIM:614083
HP:0012758	Neurodevelopmental delay	2177	FANCD2	ORPHA:84
HP:0012758	Neurodevelopmental delay	2175	FANCA	ORPHA:84
HP:0012758	Neurodevelopmental delay	2187	FANCB	ORPHA:84
HP:0012758	Neurodevelopmental delay	2176	FANCC	ORPHA:84
HP:0012758	Neurodevelopmental delay	2178	FANCE	ORPHA:84
HP:0012758	Neurodevelopmental delay	2178	FANCE	OMIM:600901
HP:0012758	Neurodevelopmental delay	2189	FANCG	ORPHA:84
HP:0012758	Neurodevelopmental delay	5888	RAD51	ORPHA:84
HP:0012758	Neurodevelopmental delay	5889	RAD51C	ORPHA:84
HP:0012758	Neurodevelopmental delay	55159	RFWD3	ORPHA:84
HP:0012758	Neurodevelopmental delay	83990	BRIP1	ORPHA:84
HP:0012758	Neurodevelopmental delay	83990	BRIP1	OMIM:609054
HP:0012758	Neurodevelopmental delay	57697	FANCM	ORPHA:84
HP:0012758	Neurodevelopmental delay	79728	PALB2	ORPHA:84
HP:0012758	Neurodevelopmental delay	84464	SLX4	ORPHA:84
HP:0012758	Neurodevelopmental delay	2072	ERCC4	ORPHA:84
HP:0012758	Neurodevelopmental delay	2072	ERCC4	ORPHA:220295
HP:0012758	Neurodevelopmental delay	55215	FANCI	ORPHA:84
HP:0012758	Neurodevelopmental delay	55215	FANCI	OMIM:609053
HP:0012758	Neurodevelopmental delay	54675	CRLS1	OMIM:620167
HP:0012758	Neurodevelopmental delay	222663	SCUBE3	OMIM:619184
HP:0012758	Neurodevelopmental delay	23116	TOGARAM1	OMIM:619185
HP:0012758	Neurodevelopmental delay	23116	TOGARAM1	ORPHA:475
HP:0012758	Neurodevelopmental delay	9184	BUB3	ORPHA:1052
HP:0012758	Neurodevelopmental delay	699	BUB1	ORPHA:1052
HP:0012758	Neurodevelopmental delay	9702	CEP57	ORPHA:1052
HP:0012758	Neurodevelopmental delay	9319	TRIP13	ORPHA:1052
HP:0012758	Neurodevelopmental delay	9319	TRIP13	OMIM:617598
HP:0012758	Neurodevelopmental delay	701	BUB1B	ORPHA:1052
HP:0012758	Neurodevelopmental delay	6999	TDO2	OMIM:600627
HP:0012758	Neurodevelopmental delay	55148	UBR7	OMIM:619189
HP:0012758	Neurodevelopmental delay	11284	PNKP	OMIM:613402
HP:0012758	Neurodevelopmental delay	11284	PNKP	ORPHA:1934
HP:0012758	Neurodevelopmental delay	56922	MCCC1	OMIM:210200
HP:0012758	Neurodevelopmental delay	3070	HELLS	OMIM:616911
HP:0012758	Neurodevelopmental delay	3070	HELLS	ORPHA:2268
HP:0012758	Neurodevelopmental delay	63894	VIPAS39	OMIM:613404
HP:0012758	Neurodevelopmental delay	83879	CDCA7	OMIM:616910
HP:0012758	Neurodevelopmental delay	83879	CDCA7	ORPHA:2268
HP:0012758	Neurodevelopmental delay	1906	EDN1	ORPHA:137888
HP:0012758	Neurodevelopmental delay	5332	PLCB4	ORPHA:137888
HP:0012758	Neurodevelopmental delay	2773	GNAI3	ORPHA:137888
HP:0012758	Neurodevelopmental delay	53834	FGFRL1	OMIM:194190
HP:0012758	Neurodevelopmental delay	3954	LETM1	OMIM:194190
HP:0012758	Neurodevelopmental delay	3954	LETM1	ORPHA:280
HP:0012758	Neurodevelopmental delay	3954	LETM1	OMIM:620089
HP:0012758	Neurodevelopmental delay	84947	SERAC1	OMIM:614739
HP:0012758	Neurodevelopmental delay	383	ARG1	ORPHA:90
HP:0012758	Neurodevelopmental delay	383	ARG1	OMIM:207800
HP:0012758	Neurodevelopmental delay	3769	KCNJ13	ORPHA:65
HP:0012758	Neurodevelopmental delay	343035	RD3	ORPHA:65
HP:0012758	Neurodevelopmental delay	145226	RDH12	ORPHA:65
HP:0012758	Neurodevelopmental delay	1406	CRX	ORPHA:65
HP:0012758	Neurodevelopmental delay	57096	RPGRIP1	ORPHA:65
HP:0012758	Neurodevelopmental delay	57096	RPGRIP1	OMIM:613826
HP:0012758	Neurodevelopmental delay	10383	TUBB4B	ORPHA:65
HP:0012758	Neurodevelopmental delay	9742	IFT140	ORPHA:65
HP:0012758	Neurodevelopmental delay	9742	IFT140	OMIM:617781
HP:0012758	Neurodevelopmental delay	9742	IFT140	OMIM:266920
HP:0012758	Neurodevelopmental delay	85015	USP45	ORPHA:65
HP:0012758	Neurodevelopmental delay	6121	RPE65	ORPHA:65
HP:0012758	Neurodevelopmental delay	23418	CRB1	ORPHA:65
HP:0012758	Neurodevelopmental delay	5130	PCYT1A	ORPHA:65
HP:0012758	Neurodevelopmental delay	392255	GDF6	ORPHA:65
HP:0012758	Neurodevelopmental delay	23746	AIPL1	ORPHA:65
HP:0012758	Neurodevelopmental delay	3000	GUCY2D	ORPHA:65
HP:0012758	Neurodevelopmental delay	9227	LRAT	ORPHA:65
HP:0012758	Neurodevelopmental delay	55812	SPATA7	ORPHA:65
HP:0012758	Neurodevelopmental delay	7287	TULP1	ORPHA:65
HP:0012758	Neurodevelopmental delay	167691	LCA5	ORPHA:65
HP:0012758	Neurodevelopmental delay	3614	IMPDH1	ORPHA:65
HP:0012758	Neurodevelopmental delay	7025	NR2F1	ORPHA:401777
HP:0012758	Neurodevelopmental delay	7025	NR2F1	OMIM:615722
HP:0012758	Neurodevelopmental delay	51660	MPC1	OMIM:614741
HP:0012758	Neurodevelopmental delay	55717	WDR11	ORPHA:95496
HP:0012758	Neurodevelopmental delay	6091	ROBO1	ORPHA:95496
HP:0012758	Neurodevelopmental delay	6091	ROBO1	OMIM:620305
HP:0012758	Neurodevelopmental delay	50937	CDON	ORPHA:95496
HP:0012758	Neurodevelopmental delay	50937	CDON	OMIM:614226
HP:0012758	Neurodevelopmental delay	23432	GPR161	ORPHA:95496
HP:0012758	Neurodevelopmental delay	11128	POLR3A	OMIM:264090
HP:0012758	Neurodevelopmental delay	11128	POLR3A	OMIM:607694
HP:0012758	Neurodevelopmental delay	11128	POLR3A	ORPHA:3455
HP:0012758	Neurodevelopmental delay	11128	POLR3A	ORPHA:447896
HP:0012758	Neurodevelopmental delay	8379	MAD1L1	OMIM:620189
HP:0012758	Neurodevelopmental delay	5649	RELN	OMIM:257320
HP:0012758	Neurodevelopmental delay	80025	PANK2	OMIM:234200
HP:0012758	Neurodevelopmental delay	80025	PANK2	ORPHA:216866
HP:0012758	Neurodevelopmental delay	55719	SLF2	OMIM:620184
HP:0012758	Neurodevelopmental delay	79759	ZNF668	OMIM:620194
HP:0012758	Neurodevelopmental delay	1737	DLAT	OMIM:245348
HP:0012758	Neurodevelopmental delay	1737	DLAT	ORPHA:79244
HP:0012758	Neurodevelopmental delay	3251	HPRT1	OMIM:300322
HP:0012758	Neurodevelopmental delay	3251	HPRT1	ORPHA:79233
HP:0012758	Neurodevelopmental delay	8050	PDHX	OMIM:245349
HP:0012758	Neurodevelopmental delay	8050	PDHX	ORPHA:255182
HP:0012758	Neurodevelopmental delay	4256	MGP	ORPHA:85202
HP:0012758	Neurodevelopmental delay	4256	MGP	OMIM:245150
HP:0012758	Neurodevelopmental delay	2255	FGF10	ORPHA:2363
HP:0012758	Neurodevelopmental delay	54112	GPR88	OMIM:616939
HP:0012758	Neurodevelopmental delay	6605	SMARCE1	OMIM:616938
HP:0012758	Neurodevelopmental delay	415	ARSL	OMIM:302950
HP:0012758	Neurodevelopmental delay	415	ARSL	ORPHA:79345
HP:0012758	Neurodevelopmental delay	2961	GTF2E2	OMIM:616943
HP:0012758	Neurodevelopmental delay	2961	GTF2E2	ORPHA:33364
HP:0012758	Neurodevelopmental delay	147372	CCBE1	OMIM:235510
HP:0012758	Neurodevelopmental delay	6314	ATXN7	ORPHA:94147
HP:0012758	Neurodevelopmental delay	9990	SLC12A6	ORPHA:1496
HP:0012758	Neurodevelopmental delay	9990	SLC12A6	OMIM:218000
HP:0012758	Neurodevelopmental delay	7407	VARS1	OMIM:617802
HP:0012758	Neurodevelopmental delay	9894	TELO2	OMIM:616954
HP:0012758	Neurodevelopmental delay	57724	EPG5	ORPHA:1493
HP:0012758	Neurodevelopmental delay	57724	EPG5	OMIM:242840
HP:0012758	Neurodevelopmental delay	9230	RAB11B	OMIM:617807
HP:0012758	Neurodevelopmental delay	10535	RNASEH2A	ORPHA:51
HP:0012758	Neurodevelopmental delay	84153	RNASEH2C	ORPHA:51
HP:0012758	Neurodevelopmental delay	25939	SAMHD1	ORPHA:51
HP:0012758	Neurodevelopmental delay	25939	SAMHD1	OMIM:612952
HP:0012758	Neurodevelopmental delay	79621	RNASEH2B	ORPHA:51
HP:0012758	Neurodevelopmental delay	134353	LSM11	ORPHA:51
HP:0012758	Neurodevelopmental delay	64135	IFIH1	ORPHA:51
HP:0012758	Neurodevelopmental delay	64135	IFIH1	OMIM:615846
HP:0012758	Neurodevelopmental delay	56052	ALG1	OMIM:608540
HP:0012758	Neurodevelopmental delay	56052	ALG1	ORPHA:79327
HP:0012758	Neurodevelopmental delay	22856	CHSY1	ORPHA:363417
HP:0012758	Neurodevelopmental delay	22856	CHSY1	OMIM:605282
HP:0012758	Neurodevelopmental delay	60529	ALX4	OMIM:613451
HP:0012758	Neurodevelopmental delay	60529	ALX4	ORPHA:52022
HP:0012758	Neurodevelopmental delay	79848	CSPP1	OMIM:615636
HP:0012758	Neurodevelopmental delay	79848	CSPP1	ORPHA:397715
HP:0012758	Neurodevelopmental delay	79848	CSPP1	ORPHA:475
HP:0012758	Neurodevelopmental delay	50943	FOXP3	OMIM:304790
HP:0012758	Neurodevelopmental delay	5279	PIGC	OMIM:617816
HP:0012758	Neurodevelopmental delay	91147	TMEM67	OMIM:216360
HP:0012758	Neurodevelopmental delay	91147	TMEM67	OMIM:615991
HP:0012758	Neurodevelopmental delay	91147	TMEM67	OMIM:610688
HP:0012758	Neurodevelopmental delay	91147	TMEM67	ORPHA:475
HP:0012758	Neurodevelopmental delay	91147	TMEM67	OMIM:613550
HP:0012758	Neurodevelopmental delay	9150	CTDP1	OMIM:604168
HP:0012758	Neurodevelopmental delay	9150	CTDP1	ORPHA:48431
HP:0012758	Neurodevelopmental delay	79587	CARS2	ORPHA:477774
HP:0012758	Neurodevelopmental delay	79587	CARS2	OMIM:616672
HP:0012758	Neurodevelopmental delay	84162	BLTP1	OMIM:617822
HP:0012758	Neurodevelopmental delay	80347	COASY	OMIM:615643
HP:0012758	Neurodevelopmental delay	2902	GRIN1	OMIM:617820
HP:0012758	Neurodevelopmental delay	2902	GRIN1	ORPHA:1934
HP:0012758	Neurodevelopmental delay	54820	NDE1	OMIM:605013
HP:0012758	Neurodevelopmental delay	54820	NDE1	ORPHA:2177
HP:0012758	Neurodevelopmental delay	54820	NDE1	OMIM:614019
HP:0012758	Neurodevelopmental delay	4692	NDN	ORPHA:177904
HP:0012758	Neurodevelopmental delay	4692	NDN	ORPHA:177901
HP:0012758	Neurodevelopmental delay	4692	NDN	ORPHA:177910
HP:0012758	Neurodevelopmental delay	4692	NDN	ORPHA:98754
HP:0012758	Neurodevelopmental delay	23732	FRRS1L	OMIM:616981
HP:0012758	Neurodevelopmental delay	10560	SLC19A2	OMIM:249270
HP:0012758	Neurodevelopmental delay	4358	MPV17	OMIM:256810
HP:0012758	Neurodevelopmental delay	6663	SOX10	ORPHA:163746
HP:0012758	Neurodevelopmental delay	6663	SOX10	OMIM:611584
HP:0012758	Neurodevelopmental delay	6663	SOX10	OMIM:609136
HP:0012758	Neurodevelopmental delay	2138	EYA1	ORPHA:2792
HP:0012758	Neurodevelopmental delay	5075	PAX1	ORPHA:2792
HP:0012758	Neurodevelopmental delay	5075	PAX1	OMIM:615560
HP:0012758	Neurodevelopmental delay	79583	TMEM231	ORPHA:2318
HP:0012758	Neurodevelopmental delay	79583	TMEM231	ORPHA:2754
HP:0012758	Neurodevelopmental delay	79583	TMEM231	OMIM:614970
HP:0012758	Neurodevelopmental delay	51524	TMEM138	ORPHA:2318
HP:0012758	Neurodevelopmental delay	23090	ZNF423	ORPHA:2318
HP:0012758	Neurodevelopmental delay	57545	CC2D2A	ORPHA:2318
HP:0012758	Neurodevelopmental delay	57545	CC2D2A	OMIM:619111
HP:0012758	Neurodevelopmental delay	57545	CC2D2A	OMIM:612285
HP:0012758	Neurodevelopmental delay	6469	SHH	OMIM:142945
HP:0012758	Neurodevelopmental delay	5147	PDE6D	OMIM:615665
HP:0012758	Neurodevelopmental delay	5147	PDE6D	ORPHA:2754
HP:0012758	Neurodevelopmental delay	5147	PDE6D	ORPHA:475
HP:0012758	Neurodevelopmental delay	4854	NOTCH3	ORPHA:2789
HP:0012758	Neurodevelopmental delay	4854	NOTCH3	OMIM:130720
HP:0012758	Neurodevelopmental delay	121278	TPH2	OMIM:613003
HP:0012758	Neurodevelopmental delay	4914	NTRK1	OMIM:256800
HP:0012758	Neurodevelopmental delay	114548	NLRP3	ORPHA:1451
HP:0012758	Neurodevelopmental delay	9750	RIPOR2	OMIM:616515
HP:0012758	Neurodevelopmental delay	5723	PSPH	ORPHA:79350
HP:0012758	Neurodevelopmental delay	5723	PSPH	OMIM:614023
HP:0012758	Neurodevelopmental delay	2313	FLI1	ORPHA:2308
HP:0012758	Neurodevelopmental delay	326625	MMAB	OMIM:251110
HP:0012758	Neurodevelopmental delay	760	CA2	ORPHA:2785
HP:0012758	Neurodevelopmental delay	9361	LONP1	ORPHA:1458
HP:0012758	Neurodevelopmental delay	9361	LONP1	OMIM:600373
HP:0012758	Neurodevelopmental delay	55180	LINS1	OMIM:614340
HP:0012758	Neurodevelopmental delay	80152	CENPT	OMIM:618702
HP:0012758	Neurodevelopmental delay	28514	DLL1	OMIM:618709
HP:0012758	Neurodevelopmental delay	23556	PIGN	ORPHA:280633
HP:0012758	Neurodevelopmental delay	23556	PIGN	OMIM:614080
HP:0012758	Neurodevelopmental delay	122553	TRAPPC6B	OMIM:617862
HP:0012758	Neurodevelopmental delay	2893	GRIA4	OMIM:617864
HP:0012758	Neurodevelopmental delay	57570	TRMT5	OMIM:616539
HP:0012758	Neurodevelopmental delay	8292	COLQ	ORPHA:98915
HP:0012758	Neurodevelopmental delay	3913	LAMB2	ORPHA:98915
HP:0012758	Neurodevelopmental delay	3913	LAMB2	OMIM:609049
HP:0012758	Neurodevelopmental delay	5456	POU3F4	ORPHA:1435
HP:0012758	Neurodevelopmental delay	55691	FRMD4A	ORPHA:466688
HP:0012758	Neurodevelopmental delay	55691	FRMD4A	OMIM:616819
HP:0012758	Neurodevelopmental delay	10577	NPC2	OMIM:607625
HP:0012758	Neurodevelopmental delay	5422	POLA1	OMIM:301220
HP:0012758	Neurodevelopmental delay	5422	POLA1	OMIM:301030
HP:0012758	Neurodevelopmental delay	51099	ABHD5	ORPHA:98907
HP:0012758	Neurodevelopmental delay	4724	NDUFS4	OMIM:252010
HP:0012758	Neurodevelopmental delay	4724	NDUFS4	ORPHA:2609
HP:0012758	Neurodevelopmental delay	387	RHOA	OMIM:618727
HP:0012758	Neurodevelopmental delay	6496	SIX3	OMIM:157170
HP:0012758	Neurodevelopmental delay	8086	AAAS	OMIM:231550
HP:0012758	Neurodevelopmental delay	26123	TCTN3	ORPHA:2753
HP:0012758	Neurodevelopmental delay	26123	TCTN3	ORPHA:2754
HP:0012758	Neurodevelopmental delay	26123	TCTN3	ORPHA:475
HP:0012758	Neurodevelopmental delay	6389	SDHA	OMIM:252011
HP:0012758	Neurodevelopmental delay	10210	TOPORS	ORPHA:2754
HP:0012758	Neurodevelopmental delay	65250	CPLANE1	ORPHA:2754
HP:0012758	Neurodevelopmental delay	65250	CPLANE1	OMIM:614615
HP:0012758	Neurodevelopmental delay	65250	CPLANE1	OMIM:277170
HP:0012758	Neurodevelopmental delay	65250	CPLANE1	ORPHA:475
HP:0012758	Neurodevelopmental delay	374654	KIF7	ORPHA:2754
HP:0012758	Neurodevelopmental delay	374654	KIF7	OMIM:607131
HP:0012758	Neurodevelopmental delay	51075	TMX2	OMIM:618730
HP:0012758	Neurodevelopmental delay	57647	DHX37	OMIM:618731
HP:0012758	Neurodevelopmental delay	65057	ACD	OMIM:616553
HP:0012758	Neurodevelopmental delay	65057	ACD	ORPHA:3322
HP:0012758	Neurodevelopmental delay	7471	WNT1	OMIM:615220
HP:0012758	Neurodevelopmental delay	10736	SIX2	ORPHA:488437
HP:0012758	Neurodevelopmental delay	51763	INPP5K	OMIM:617404
HP:0012758	Neurodevelopmental delay	8449	DHX16	OMIM:618733
HP:0012758	Neurodevelopmental delay	3852	KRT5	ORPHA:79396
HP:0012758	Neurodevelopmental delay	3852	KRT5	OMIM:619599
HP:0012758	Neurodevelopmental delay	3861	KRT14	ORPHA:79396
HP:0012758	Neurodevelopmental delay	1497	CTNS	OMIM:219800
HP:0012758	Neurodevelopmental delay	4791	NFKB2	ORPHA:293978
HP:0012758	Neurodevelopmental delay	4791	NFKB2	OMIM:615577
HP:0012758	Neurodevelopmental delay	10617	STAMBP	OMIM:614261
HP:0012758	Neurodevelopmental delay	8294	H4C9	OMIM:619951
HP:0012758	Neurodevelopmental delay	343450	KCNT2	OMIM:617771
HP:0012758	Neurodevelopmental delay	27247	NFU1	OMIM:620938
HP:0012758	Neurodevelopmental delay	27247	NFU1	OMIM:605711
HP:0012758	Neurodevelopmental delay	55627	SMPD4	OMIM:618622
HP:0012758	Neurodevelopmental delay	23417	MLYCD	OMIM:248360
HP:0012758	Neurodevelopmental delay	81857	MED25	OMIM:616449
HP:0012758	Neurodevelopmental delay	5361	PLXNA1	OMIM:619955
HP:0012758	Neurodevelopmental delay	64682	ANAPC1	OMIM:618625
HP:0012758	Neurodevelopmental delay	64682	ANAPC1	ORPHA:221008
HP:0012758	Neurodevelopmental delay	9786	KIAA0586	ORPHA:397715
HP:0012758	Neurodevelopmental delay	9786	KIAA0586	OMIM:616490
HP:0012758	Neurodevelopmental delay	9786	KIAA0586	ORPHA:475
HP:0012758	Neurodevelopmental delay	57165	GJC2	OMIM:608804
HP:0012758	Neurodevelopmental delay	267010	RNU12	OMIM:603116
HP:0012758	Neurodevelopmental delay	267010	RNU12	ORPHA:85199
HP:0012758	Neurodevelopmental delay	6536	SLC6A9	OMIM:617301
HP:0012758	Neurodevelopmental delay	790	CAD	OMIM:616457
HP:0012758	Neurodevelopmental delay	65082	VPS33A	OMIM:617303
HP:0012758	Neurodevelopmental delay	65082	VPS33A	ORPHA:505248
HP:0012758	Neurodevelopmental delay	526	ATP6V1B2	OMIM:616455
HP:0012758	Neurodevelopmental delay	526	ATP6V1B2	ORPHA:79500
HP:0012758	Neurodevelopmental delay	10730	YME1L1	OMIM:617302
HP:0012758	Neurodevelopmental delay	10565	ARFGEF1	OMIM:619964
HP:0012758	Neurodevelopmental delay	129563	DIS3L2	ORPHA:2849
HP:0012758	Neurodevelopmental delay	129563	DIS3L2	OMIM:267000
HP:0012758	Neurodevelopmental delay	128486	FITM2	OMIM:618635
HP:0012758	Neurodevelopmental delay	3284	HSD3B2	ORPHA:90791
HP:0012758	Neurodevelopmental delay	10559	SLC35A1	OMIM:603585
HP:0012758	Neurodevelopmental delay	10584	COLEC10	OMIM:248340
HP:0012758	Neurodevelopmental delay	91869	RFT1	ORPHA:244310
HP:0012758	Neurodevelopmental delay	91869	RFT1	OMIM:612015
HP:0012758	Neurodevelopmental delay	79184	BRCC3	ORPHA:280679
HP:0012758	Neurodevelopmental delay	2626	GATA4	ORPHA:251071
HP:0012758	Neurodevelopmental delay	7469	NELFA	ORPHA:280
HP:0012758	Neurodevelopmental delay	22884	WDR37	OMIM:618652
HP:0012758	Neurodevelopmental delay	388962	BOLA3	OMIM:614299
HP:0012758	Neurodevelopmental delay	9731	CEP104	OMIM:619988
HP:0012758	Neurodevelopmental delay	9731	CEP104	OMIM:616781
HP:0012758	Neurodevelopmental delay	9731	CEP104	ORPHA:475
HP:0012758	Neurodevelopmental delay	3782	KCNN3	OMIM:618658
HP:0012758	Neurodevelopmental delay	8642	DCHS1	OMIM:601390
HP:0012758	Neurodevelopmental delay	8642	DCHS1	ORPHA:314679
HP:0012758	Neurodevelopmental delay	8241	RBM10	OMIM:311900
HP:0012758	Neurodevelopmental delay	8241	RBM10	ORPHA:2886
HP:0012758	Neurodevelopmental delay	57167	SALL4	ORPHA:233
HP:0012758	Neurodevelopmental delay	9935	MAFB	ORPHA:233
HP:0012758	Neurodevelopmental delay	1123	CHN1	ORPHA:233
HP:0012758	Neurodevelopmental delay	23312	DMXL2	OMIM:618663
HP:0012758	Neurodevelopmental delay	23312	DMXL2	ORPHA:1934
HP:0012758	Neurodevelopmental delay	85301	COL27A1	OMIM:615155
HP:0012758	Neurodevelopmental delay	63895	PIEZO2	OMIM:114300
HP:0012758	Neurodevelopmental delay	63895	PIEZO2	ORPHA:2461
HP:0012758	Neurodevelopmental delay	63895	PIEZO2	OMIM:617146
HP:0012758	Neurodevelopmental delay	84879	MFSD2A	OMIM:616486
HP:0012758	Neurodevelopmental delay	84879	MFSD2A	ORPHA:2512
HP:0012758	Neurodevelopmental delay	213	ALB	OMIM:616000
HP:0012758	Neurodevelopmental delay	27089	UQCRQ	OMIM:615159
HP:0012758	Neurodevelopmental delay	55699	IARS2	OMIM:616007
HP:0012758	Neurodevelopmental delay	54902	TTC19	OMIM:615157
HP:0012758	Neurodevelopmental delay	1660	DHX9	OMIM:620988
HP:0012758	Neurodevelopmental delay	4191	MDH2	OMIM:617339
HP:0012758	Neurodevelopmental delay	286	ANK1	ORPHA:251066
HP:0012758	Neurodevelopmental delay	5860	QDPR	ORPHA:226
HP:0012758	Neurodevelopmental delay	5860	QDPR	OMIM:261630
HP:0012758	Neurodevelopmental delay	166785	MMAA	OMIM:251100
HP:0012758	Neurodevelopmental delay	5551	PRF1	OMIM:603553
HP:0012758	Neurodevelopmental delay	8676	STX11	OMIM:603552
HP:0012758	Neurodevelopmental delay	554	AVPR2	ORPHA:223
HP:0012758	Neurodevelopmental delay	359	AQP2	ORPHA:223
HP:0012758	Neurodevelopmental delay	7385	UQCRC2	OMIM:615160
HP:0012758	Neurodevelopmental delay	4849	CNOT3	OMIM:618672
HP:0012758	Neurodevelopmental delay	6324	SCN1B	OMIM:617350
HP:0012758	Neurodevelopmental delay	6324	SCN1B	ORPHA:1934
HP:0012758	Neurodevelopmental delay	79989	IFT56	OMIM:619534
HP:0012758	Neurodevelopmental delay	9922	IQSEC1	OMIM:618687
HP:0012758	Neurodevelopmental delay	284098	PIGW	OMIM:616025
HP:0012758	Neurodevelopmental delay	284098	PIGW	ORPHA:247262
HP:0012758	Neurodevelopmental delay	2678	GGT1	OMIM:231950
HP:0012758	Neurodevelopmental delay	2006	ELN	ORPHA:90348
HP:0012758	Neurodevelopmental delay	10516	FBLN5	ORPHA:90348
HP:0012758	Neurodevelopmental delay	3930	LBR	OMIM:169400
HP:0012758	Neurodevelopmental delay	404672	GTF2H5	ORPHA:33364
HP:0012758	Neurodevelopmental delay	404672	GTF2H5	OMIM:616395
HP:0012758	Neurodevelopmental delay	136647	MPLKIP	ORPHA:33364
HP:0012758	Neurodevelopmental delay	136647	MPLKIP	OMIM:234050
HP:0012758	Neurodevelopmental delay	6897	TARS1	ORPHA:33364
HP:0012758	Neurodevelopmental delay	2071	ERCC3	ORPHA:33364
HP:0012758	Neurodevelopmental delay	2071	ERCC3	ORPHA:220295
HP:0012758	Neurodevelopmental delay	148789	B3GALNT2	OMIM:615181
HP:0012758	Neurodevelopmental delay	148789	B3GALNT2	ORPHA:899
HP:0012758	Neurodevelopmental delay	6576	SLC25A1	OMIM:615182
HP:0012758	Neurodevelopmental delay	6576	SLC25A1	OMIM:618197
HP:0012758	Neurodevelopmental delay	7040	TGFB1	OMIM:618213
HP:0012758	Neurodevelopmental delay	133686	NADK2	OMIM:616034
HP:0012758	Neurodevelopmental delay	133686	NADK2	ORPHA:431361
HP:0012758	Neurodevelopmental delay	11338	U2AF2	OMIM:620535
HP:0012758	Neurodevelopmental delay	6857	SYT1	OMIM:618218
HP:0012758	Neurodevelopmental delay	9091	PIGQ	ORPHA:1934
HP:0012758	Neurodevelopmental delay	81603	TRIM8	ORPHA:1934
HP:0012758	Neurodevelopmental delay	81603	TRIM8	OMIM:619428
HP:0012758	Neurodevelopmental delay	150094	SIK1	ORPHA:1934
HP:0012758	Neurodevelopmental delay	150094	SIK1	OMIM:616341
HP:0012758	Neurodevelopmental delay	2917	GRM7	ORPHA:1934
HP:0012758	Neurodevelopmental delay	51227	PIGP	ORPHA:1934
HP:0012758	Neurodevelopmental delay	51227	PIGP	OMIM:617599
HP:0012758	Neurodevelopmental delay	8803	SUCLA2	ORPHA:1933
HP:0012758	Neurodevelopmental delay	10456	HAX1	OMIM:610738
HP:0012758	Neurodevelopmental delay	3912	LAMB1	OMIM:615191
HP:0012758	Neurodevelopmental delay	51750	RTEL1	OMIM:615190
HP:0012758	Neurodevelopmental delay	51750	RTEL1	ORPHA:3322
HP:0012758	Neurodevelopmental delay	51750	RTEL1	ORPHA:1775
HP:0012758	Neurodevelopmental delay	4728	NDUFS8	OMIM:618222
HP:0012758	Neurodevelopmental delay	4728	NDUFS8	ORPHA:2609
HP:0012758	Neurodevelopmental delay	4723	NDUFV1	OMIM:618225
HP:0012758	Neurodevelopmental delay	4723	NDUFV1	ORPHA:2609
HP:0012758	Neurodevelopmental delay	79705	LRRK1	OMIM:615198
HP:0012758	Neurodevelopmental delay	4719	NDUFS1	OMIM:618226
HP:0012758	Neurodevelopmental delay	4719	NDUFS1	ORPHA:2609
HP:0012758	Neurodevelopmental delay	8818	DPM2	ORPHA:329178
HP:0012758	Neurodevelopmental delay	8818	DPM2	OMIM:615042
HP:0012758	Neurodevelopmental delay	4720	NDUFS2	OMIM:618228
HP:0012758	Neurodevelopmental delay	4720	NDUFS2	ORPHA:2609
HP:0012758	Neurodevelopmental delay	2627	GATA6	OMIM:600001
HP:0012758	Neurodevelopmental delay	11160	ERLIN2	ORPHA:209951
HP:0012758	Neurodevelopmental delay	55869	HDAC8	OMIM:300882
HP:0012758	Neurodevelopmental delay	55869	HDAC8	ORPHA:3459
HP:0012758	Neurodevelopmental delay	1349	COX7B	OMIM:300887
HP:0012758	Neurodevelopmental delay	1349	COX7B	ORPHA:2556
HP:0012758	Neurodevelopmental delay	1349	COX7B	OMIM:309801
HP:0012758	Neurodevelopmental delay	91942	NDUFAF2	OMIM:618233
HP:0012758	Neurodevelopmental delay	91942	NDUFAF2	ORPHA:2609
HP:0012758	Neurodevelopmental delay	650	BMP2	ORPHA:261295
HP:0012758	Neurodevelopmental delay	6514	SLC2A2	OMIM:227810
HP:0012758	Neurodevelopmental delay	51103	NDUFAF1	OMIM:618234
HP:0012758	Neurodevelopmental delay	51103	NDUFAF1	ORPHA:2609
HP:0012758	Neurodevelopmental delay	100151683	RNU4ATAC	OMIM:226960
HP:0012758	Neurodevelopmental delay	100151683	RNU4ATAC	OMIM:616651
HP:0012758	Neurodevelopmental delay	100151683	RNU4ATAC	ORPHA:2636
HP:0012758	Neurodevelopmental delay	4695	NDUFA2	OMIM:618235
HP:0012758	Neurodevelopmental delay	126328	NDUFA11	OMIM:618236
HP:0012758	Neurodevelopmental delay	126328	NDUFA11	ORPHA:2609
HP:0012758	Neurodevelopmental delay	1062	CENPE	OMIM:616051
HP:0012758	Neurodevelopmental delay	1062	CENPE	ORPHA:2512
HP:0012758	Neurodevelopmental delay	51119	SBDS	OMIM:260400
HP:0012758	Neurodevelopmental delay	9342	SNAP29	ORPHA:66631
HP:0012758	Neurodevelopmental delay	9342	SNAP29	OMIM:609528
HP:0012758	Neurodevelopmental delay	219854	TMEM218	OMIM:619562
HP:0012758	Neurodevelopmental delay	219854	TMEM218	ORPHA:475
HP:0012758	Neurodevelopmental delay	8312	AXIN1	OMIM:620558
HP:0012758	Neurodevelopmental delay	79133	NDUFAF5	OMIM:618238
HP:0012758	Neurodevelopmental delay	79133	NDUFAF5	ORPHA:2609
HP:0012758	Neurodevelopmental delay	137682	NDUFAF6	OMIM:618239
HP:0012758	Neurodevelopmental delay	2710	GK	OMIM:307030
HP:0012758	Neurodevelopmental delay	9179	AP4M1	OMIM:612936
HP:0012758	Neurodevelopmental delay	9179	AP4M1	ORPHA:280763
HP:0012758	Neurodevelopmental delay	9126	SMC3	OMIM:610759
HP:0012758	Neurodevelopmental delay	4976	OPA1	ORPHA:98673
HP:0012758	Neurodevelopmental delay	351	APP	ORPHA:324703
HP:0012758	Neurodevelopmental delay	56915	EXOSC5	OMIM:619576
HP:0012758	Neurodevelopmental delay	22796	COG2	OMIM:617395
HP:0012758	Neurodevelopmental delay	4709	NDUFB3	OMIM:618246
HP:0012758	Neurodevelopmental delay	4709	NDUFB3	ORPHA:2609
HP:0012758	Neurodevelopmental delay	112939	NACC1	OMIM:617393
HP:0012758	Neurodevelopmental delay	112939	NACC1	ORPHA:500545
HP:0012758	Neurodevelopmental delay	25915	NDUFAF3	OMIM:618240
HP:0012758	Neurodevelopmental delay	25915	NDUFAF3	ORPHA:2609
HP:0012758	Neurodevelopmental delay	55572	FOXRED1	OMIM:618241
HP:0012758	Neurodevelopmental delay	55572	FOXRED1	ORPHA:2609
HP:0012758	Neurodevelopmental delay	80224	NUBPL	OMIM:618242
HP:0012758	Neurodevelopmental delay	80224	NUBPL	ORPHA:2609
HP:0012758	Neurodevelopmental delay	8260	NAA10	OMIM:300855
HP:0012758	Neurodevelopmental delay	8260	NAA10	ORPHA:276432
HP:0012758	Neurodevelopmental delay	4705	NDUFA10	OMIM:618243
HP:0012758	Neurodevelopmental delay	2664	GDI1	OMIM:300849
HP:0012758	Neurodevelopmental delay	51079	NDUFA13	OMIM:618249
HP:0012758	Neurodevelopmental delay	10092	ARPC5	OMIM:620565
HP:0012758	Neurodevelopmental delay	116442	RAB39B	OMIM:311510
HP:0012758	Neurodevelopmental delay	116442	RAB39B	OMIM:300271
HP:0012758	Neurodevelopmental delay	4864	NPC1	OMIM:257220
HP:0012758	Neurodevelopmental delay	56652	TWNK	OMIM:609286
HP:0012758	Neurodevelopmental delay	8604	SLC25A12	OMIM:612949
HP:0012758	Neurodevelopmental delay	10483	SEC23B	ORPHA:201
HP:0012758	Neurodevelopmental delay	6391	SDHC	ORPHA:201
HP:0012758	Neurodevelopmental delay	207	AKT1	ORPHA:201
HP:0012758	Neurodevelopmental delay	205717	USF3	ORPHA:201
HP:0012758	Neurodevelopmental delay	100144748	KLLN	ORPHA:201
HP:0012758	Neurodevelopmental delay	10524	KAT5	OMIM:619103
HP:0012758	Neurodevelopmental delay	9451	EIF2AK3	OMIM:226980
HP:0012758	Neurodevelopmental delay	9451	EIF2AK3	ORPHA:1667
HP:0012758	Neurodevelopmental delay	51300	TIMMDC1	OMIM:618251
HP:0012758	Neurodevelopmental delay	51300	TIMMDC1	ORPHA:2609
HP:0012758	Neurodevelopmental delay	4714	NDUFB8	OMIM:618252
HP:0012758	Neurodevelopmental delay	4700	NDUFA6	OMIM:618253
HP:0012758	Neurodevelopmental delay	4700	NDUFA6	ORPHA:2609
HP:0012758	Neurodevelopmental delay	23384	SPECC1L	OMIM:145420
HP:0012758	Neurodevelopmental delay	6023	RMRP	OMIM:607095
HP:0012758	Neurodevelopmental delay	2683	B4GALT1	OMIM:607091
HP:0012758	Neurodevelopmental delay	4990	SIX6	OMIM:206900
HP:0012758	Neurodevelopmental delay	990	CDC6	OMIM:613805
HP:0012758	Neurodevelopmental delay	990	CDC6	ORPHA:2554
HP:0012758	Neurodevelopmental delay	11340	EXOSC8	OMIM:616081
HP:0012758	Neurodevelopmental delay	11340	EXOSC8	ORPHA:2254
HP:0012758	Neurodevelopmental delay	3975	LHX1	ORPHA:261265
HP:0012758	Neurodevelopmental delay	6928	HNF1B	ORPHA:261265
HP:0012758	Neurodevelopmental delay	6928	HNF1B	ORPHA:93111
HP:0012758	Neurodevelopmental delay	51095	TRNT1	OMIM:616084
HP:0012758	Neurodevelopmental delay	4983	OPHN1	ORPHA:137831
HP:0012758	Neurodevelopmental delay	4983	OPHN1	OMIM:300486
HP:0012758	Neurodevelopmental delay	51091	SEPSECS	OMIM:613811
HP:0012758	Neurodevelopmental delay	1528	CYB5A	ORPHA:621
HP:0012758	Neurodevelopmental delay	1727	CYB5R3	ORPHA:621
HP:0012758	Neurodevelopmental delay	1727	CYB5R3	OMIM:250800
HP:0012758	Neurodevelopmental delay	23405	DICER1	OMIM:618272
HP:0012758	Neurodevelopmental delay	113189	CHST14	OMIM:601776
HP:0012758	Neurodevelopmental delay	2571	GAD1	OMIM:619124
HP:0012758	Neurodevelopmental delay	374354	NHLRC2	OMIM:618278
HP:0012758	Neurodevelopmental delay	6566	SLC16A1	OMIM:616095
HP:0012758	Neurodevelopmental delay	22983	MAST1	OMIM:618273
HP:0012758	Neurodevelopmental delay	55755	CDK5RAP2	OMIM:604804
HP:0012758	Neurodevelopmental delay	55755	CDK5RAP2	ORPHA:2512
HP:0012758	Neurodevelopmental delay	90416	CCDC32	OMIM:619123
HP:0012758	Neurodevelopmental delay	23287	AGTPBP1	OMIM:618276
HP:0012758	Neurodevelopmental delay	23287	AGTPBP1	ORPHA:2254
HP:0012758	Neurodevelopmental delay	64093	SMOC1	OMIM:206920
HP:0012758	Neurodevelopmental delay	9895	TECPR2	ORPHA:320385
HP:0012758	Neurodevelopmental delay	9895	TECPR2	OMIM:615031
HP:0012758	Neurodevelopmental delay	55835	CPAP	OMIM:608393
HP:0012758	Neurodevelopmental delay	4668	NAGA	OMIM:609241
HP:0012758	Neurodevelopmental delay	4668	NAGA	ORPHA:79281
HP:0012758	Neurodevelopmental delay	4668	NAGA	ORPHA:79279
HP:0012758	Neurodevelopmental delay	9487	PIGL	OMIM:280000
HP:0012758	Neurodevelopmental delay	9487	PIGL	ORPHA:247262
HP:0012758	Neurodevelopmental delay	23259	DDHD2	ORPHA:320380
HP:0012758	Neurodevelopmental delay	23259	DDHD2	OMIM:615033
HP:0012758	Neurodevelopmental delay	2581	GALC	ORPHA:206436
HP:0012758	Neurodevelopmental delay	5660	PSAP	ORPHA:206436
HP:0012758	Neurodevelopmental delay	5660	PSAP	OMIM:249900
HP:0012758	Neurodevelopmental delay	1719	DHFR	OMIM:613839
HP:0012758	Neurodevelopmental delay	1795	DOCK3	OMIM:618292
HP:0012758	Neurodevelopmental delay	79644	SRD5A3	ORPHA:324737
HP:0012758	Neurodevelopmental delay	79644	SRD5A3	OMIM:612379
HP:0012758	Neurodevelopmental delay	80704	SLC19A3	ORPHA:263410
HP:0012758	Neurodevelopmental delay	80704	SLC19A3	OMIM:607483
HP:0012758	Neurodevelopmental delay	3735	KARS1	OMIM:619147
HP:0012758	Neurodevelopmental delay	3735	KARS1	OMIM:613641
HP:0012758	Neurodevelopmental delay	6499	SKIC2	ORPHA:84064
HP:0012758	Neurodevelopmental delay	132001	TAMM41	OMIM:620139
HP:0012758	Neurodevelopmental delay	54938	SARS2	OMIM:613845
HP:0012758	Neurodevelopmental delay	26275	HIBCH	OMIM:250620
HP:0012758	Neurodevelopmental delay	11005	SPINK5	ORPHA:634
HP:0012758	Neurodevelopmental delay	11005	SPINK5	OMIM:256500
HP:0012758	Neurodevelopmental delay	4594	MMUT	ORPHA:289916
HP:0012758	Neurodevelopmental delay	4594	MMUT	OMIM:251000
HP:0012758	Neurodevelopmental delay	4594	MMUT	ORPHA:79312
HP:0012758	Neurodevelopmental delay	199857	ALG14	OMIM:619031
HP:0012758	Neurodevelopmental delay	91574	MTRFR	ORPHA:254930
HP:0012758	Neurodevelopmental delay	91574	MTRFR	OMIM:615035
HP:0012758	Neurodevelopmental delay	91574	MTRFR	OMIM:613559
HP:0012758	Neurodevelopmental delay	10491	CRTAP	ORPHA:2050
HP:0012758	Neurodevelopmental delay	9871	SEC24D	ORPHA:2050
HP:0012758	Neurodevelopmental delay	9871	SEC24D	OMIM:616294
HP:0012758	Neurodevelopmental delay	83700	JAM3	OMIM:613730
HP:0012758	Neurodevelopmental delay	95	ACY1	ORPHA:137754
HP:0012758	Neurodevelopmental delay	95	ACY1	OMIM:609924
HP:0012758	Neurodevelopmental delay	145173	B3GLCT	ORPHA:709
HP:0012758	Neurodevelopmental delay	145173	B3GLCT	OMIM:261540
HP:0012758	Neurodevelopmental delay	55325	UFSP2	OMIM:620028
HP:0012758	Neurodevelopmental delay	4774	NFIA	OMIM:613735
HP:0012758	Neurodevelopmental delay	4774	NFIA	ORPHA:401986
HP:0012758	Neurodevelopmental delay	8496	PPFIBP1	OMIM:620024
HP:0012758	Neurodevelopmental delay	5111	PCNA	OMIM:615919
HP:0012758	Neurodevelopmental delay	5111	PCNA	ORPHA:438134
HP:0012758	Neurodevelopmental delay	118987	PDZD8	OMIM:620021
HP:0012758	Neurodevelopmental delay	4758	NEU1	ORPHA:93399
HP:0012758	Neurodevelopmental delay	4758	NEU1	ORPHA:93400
HP:0012758	Neurodevelopmental delay	57176	VARS2	OMIM:615917
HP:0012758	Neurodevelopmental delay	80222	TARS2	OMIM:615918
HP:0012758	Neurodevelopmental delay	6531	SLC6A3	ORPHA:238455
HP:0012758	Neurodevelopmental delay	6531	SLC6A3	OMIM:613135
HP:0012758	Neurodevelopmental delay	162	AP1B1	OMIM:242150
HP:0012758	Neurodevelopmental delay	3141	HLCS	OMIM:253270
HP:0012758	Neurodevelopmental delay	55163	PNPO	ORPHA:79096
HP:0012758	Neurodevelopmental delay	55163	PNPO	OMIM:610090
HP:0012758	Neurodevelopmental delay	5689	PSMB1	OMIM:620038
HP:0012758	Neurodevelopmental delay	23431	AP4E1	OMIM:613744
HP:0012758	Neurodevelopmental delay	23431	AP4E1	ORPHA:280763
HP:0012758	Neurodevelopmental delay	63908	NAPB	OMIM:620033
HP:0012758	Neurodevelopmental delay	28958	COA3	OMIM:619058
HP:0012758	Neurodevelopmental delay	1351	COX8A	OMIM:619059
HP:0012758	Neurodevelopmental delay	191	AHCY	OMIM:613752
HP:0012758	Neurodevelopmental delay	191	AHCY	ORPHA:88618
HP:0012758	Neurodevelopmental delay	686	BTD	OMIM:253260
HP:0012758	Neurodevelopmental delay	686	BTD	ORPHA:79241
HP:0012758	Neurodevelopmental delay	6575	SLC20A2	OMIM:213600
HP:0012758	Neurodevelopmental delay	5159	PDGFRB	OMIM:213600
HP:0012758	Neurodevelopmental delay	5159	PDGFRB	OMIM:601812
HP:0012758	Neurodevelopmental delay	5155	PDGFB	OMIM:213600
HP:0012758	Neurodevelopmental delay	10015	PDCD6IP	OMIM:620047
HP:0012758	Neurodevelopmental delay	894	CCND2	OMIM:615938
HP:0012758	Neurodevelopmental delay	7840	ALMS1	OMIM:203800
HP:0012758	Neurodevelopmental delay	5428	POLG	ORPHA:726
HP:0012758	Neurodevelopmental delay	5428	POLG	OMIM:203700
HP:0012758	Neurodevelopmental delay	5428	POLG	OMIM:613662
HP:0012758	Neurodevelopmental delay	7080	NKX2-1	ORPHA:209905
HP:0012758	Neurodevelopmental delay	7080	NKX2-1	OMIM:610978
HP:0012758	Neurodevelopmental delay	7080	NKX2-1	ORPHA:95713
HP:0012758	Neurodevelopmental delay	6598	SMARCB1	OMIM:614608
HP:0012758	Neurodevelopmental delay	6597	SMARCA4	OMIM:614609
HP:0012758	Neurodevelopmental delay	10352	WARS2	ORPHA:572798
HP:0012758	Neurodevelopmental delay	10352	WARS2	OMIM:617710
HP:0012758	Neurodevelopmental delay	124512	METTL23	OMIM:615942
HP:0012758	Neurodevelopmental delay	26005	C2CD3	OMIM:615948
HP:0012758	Neurodevelopmental delay	26005	C2CD3	ORPHA:434179
HP:0012758	Neurodevelopmental delay	9152	SLC6A5	OMIM:614618
HP:0012758	Neurodevelopmental delay	1174	AP1S1	OMIM:609313
HP:0012758	Neurodevelopmental delay	23265	EXOC7	OMIM:619072
HP:0012758	Neurodevelopmental delay	1802	DPH2	OMIM:620062
HP:0012758	Neurodevelopmental delay	1802	DPH2	ORPHA:459061
HP:0012758	Neurodevelopmental delay	5091	PC	OMIM:266150
HP:0012758	Neurodevelopmental delay	81031	SLC2A10	ORPHA:3342
HP:0012758	Neurodevelopmental delay	9719	ADAMTSL2	OMIM:231050
HP:0012758	Neurodevelopmental delay	83475	DOHH	OMIM:620066
HP:0012758	Neurodevelopmental delay	6609	SMPD1	OMIM:257200
HP:0012758	Neurodevelopmental delay	84992	PIGY	OMIM:616809
HP:0012758	Neurodevelopmental delay	84992	PIGY	ORPHA:247262
HP:0012758	Neurodevelopmental delay	10236	HNRNPR	OMIM:620073
HP:0012758	Neurodevelopmental delay	51611	DPH5	OMIM:620070
HP:0012758	Neurodevelopmental delay	4089	SMAD4	OMIM:139210
HP:0012758	Neurodevelopmental delay	4089	SMAD4	ORPHA:2588
HP:0012758	Neurodevelopmental delay	255928	SYT14	ORPHA:284271
HP:0012758	Neurodevelopmental delay	255928	SYT14	OMIM:614229
HP:0012758	Neurodevelopmental delay	25828	TXN2	OMIM:616811
HP:0012758	Neurodevelopmental delay	7443	VRK1	OMIM:607596
HP:0012758	Neurodevelopmental delay	7443	VRK1	ORPHA:2254
HP:0012758	Neurodevelopmental delay	3187	HNRNPH1	OMIM:620083
HP:0012758	Neurodevelopmental delay	4920	ROR2	OMIM:268310
HP:0012758	Neurodevelopmental delay	9080	CLDN9	OMIM:619093
HP:0012758	Neurodevelopmental delay	7355	SLC35A2	OMIM:300896
HP:0012758	Neurodevelopmental delay	7355	SLC35A2	ORPHA:356961
HP:0012758	Neurodevelopmental delay	4088	SMAD3	OMIM:613795
HP:0012758	Neurodevelopmental delay	147007	TMEM199	OMIM:616829
HP:0012758	Neurodevelopmental delay	84317	CCDC115	OMIM:616828
HP:0012758	Neurodevelopmental delay	5073	PARN	ORPHA:3322
HP:0012758	Neurodevelopmental delay	5073	PARN	OMIM:616353
HP:0012758	Neurodevelopmental delay	5073	PARN	ORPHA:1775
HP:0012758	Neurodevelopmental delay	7015	TERT	ORPHA:3322
HP:0012758	Neurodevelopmental delay	7015	TERT	OMIM:613989
HP:0012758	Neurodevelopmental delay	7015	TERT	ORPHA:1775
HP:0012758	Neurodevelopmental delay	1736	DKC1	ORPHA:3322
HP:0012758	Neurodevelopmental delay	1736	DKC1	OMIM:305000
HP:0012758	Neurodevelopmental delay	1736	DKC1	ORPHA:1775
HP:0012758	Neurodevelopmental delay	92154	MTSS2	OMIM:620086
HP:0012758	Neurodevelopmental delay	84978	FRMD5	OMIM:620094
HP:0012758	Neurodevelopmental delay	113612	CYP2U1	ORPHA:320411
HP:0012758	Neurodevelopmental delay	57017	COQ9	OMIM:614654
HP:0012758	Neurodevelopmental delay	51025	PAM16	OMIM:613320
HP:0012758	Neurodevelopmental delay	6307	MSMO1	OMIM:616834
HP:0012758	Neurodevelopmental delay	1828	DSG1	OMIM:615508
HP:0012758	Neurodevelopmental delay	90417	KNSTRN	OMIM:613328
HP:0012758	Neurodevelopmental delay	90417	KNSTRN	ORPHA:221139
HP:0012758	Neurodevelopmental delay	3720	JARID2	OMIM:620098
HP:0012758	Neurodevelopmental delay	865	CBFB	OMIM:620099
HP:0012758	Neurodevelopmental delay	9780	PIEZO1	OMIM:616843
HP:0012758	Neurodevelopmental delay	7167	TPI1	OMIM:615512
HP:0012758	Neurodevelopmental delay	3313	HSPA9	OMIM:616854
HP:0012758	Neurodevelopmental delay	51010	EXOSC3	OMIM:614678
HP:0012758	Neurodevelopmental delay	51010	EXOSC3	ORPHA:2254
HP:0012758	Neurodevelopmental delay	6301	SARS1	OMIM:617709
HP:0012758	Neurodevelopmental delay	6301	SARS1	ORPHA:2512
HP:0012758	Neurodevelopmental delay	10265	IRX5	OMIM:611174
HP:0012758	Neurodevelopmental delay	11253	MAN1B1	OMIM:614202
HP:0012758	Neurodevelopmental delay	11253	MAN1B1	ORPHA:397941
HP:0012758	Neurodevelopmental delay	51008	ASCC1	OMIM:616867
HP:0012758	Neurodevelopmental delay	1105	CHD1	ORPHA:529965
HP:0012758	Neurodevelopmental delay	1105	CHD1	OMIM:617682
HP:0012758	Neurodevelopmental delay	84342	COG8	OMIM:611182
HP:0012758	Neurodevelopmental delay	3758	KCNJ1	OMIM:241200
HP:0012758	Neurodevelopmental delay	79633	FAT4	OMIM:615546
HP:0012758	Neurodevelopmental delay	79633	FAT4	ORPHA:314679
HP:0012758	Neurodevelopmental delay	4644	MYO5A	ORPHA:79476
HP:0012758	Neurodevelopmental delay	4644	MYO5A	ORPHA:33445
HP:0012758	Neurodevelopmental delay	4644	MYO5A	OMIM:214450
HP:0012758	Neurodevelopmental delay	59336	PRDM13	OMIM:619909
HP:0012758	Neurodevelopmental delay	59336	PRDM13	OMIM:619761
HP:0012758	Neurodevelopmental delay	51501	HIKESHI	OMIM:616881
HP:0012758	Neurodevelopmental delay	163786	SASS6	OMIM:616402
HP:0012758	Neurodevelopmental delay	163786	SASS6	ORPHA:2512
HP:0012758	Neurodevelopmental delay	22931	RAB18	OMIM:614222
HP:0012758	Neurodevelopmental delay	22931	RAB18	ORPHA:2510
HP:0012758	Neurodevelopmental delay	23443	SLC35A3	OMIM:615553
HP:0012758	Neurodevelopmental delay	51002	TPRKB	OMIM:617731
HP:0012758	Neurodevelopmental delay	51002	TPRKB	ORPHA:2065
HP:0012758	Neurodevelopmental delay	490	ATP2B1	OMIM:619910
HP:0012758	Neurodevelopmental delay	4796	TONSL	ORPHA:93357
HP:0012758	Neurodevelopmental delay	6925	TCF4	ORPHA:2896
HP:0012758	Neurodevelopmental delay	51124	IER3IP1	OMIM:614231
HP:0012758	Neurodevelopmental delay	83737	ITCH	OMIM:613385
HP:0012758	Neurodevelopmental delay	83737	ITCH	ORPHA:228426
HP:0012758	Neurodevelopmental delay	55164	SHQ1	OMIM:619921
HP:0012758	Neurodevelopmental delay	55164	SHQ1	OMIM:619922
HP:0012758	Neurodevelopmental delay	5495	PPM1B	ORPHA:163693
HP:0012758	Neurodevelopmental delay	6519	SLC3A1	ORPHA:163693
HP:0012758	Neurodevelopmental delay	9581	PREPL	ORPHA:163693
HP:0012758	Neurodevelopmental delay	79823	CAMKMT	ORPHA:163693
HP:0012758	Neurodevelopmental delay	3423	IDS	ORPHA:217093
HP:0012758	Neurodevelopmental delay	3423	IDS	ORPHA:217085
HP:0012758	Neurodevelopmental delay	11154	AP4S1	ORPHA:280763
HP:0012758	Neurodevelopmental delay	11154	AP4S1	OMIM:614067
HP:0012758	Neurodevelopmental delay	29920	PYCR2	OMIM:616420
HP:0012758	Neurodevelopmental delay	29920	PYCR2	ORPHA:2512
HP:0012758	Neurodevelopmental delay	440	ASNS	OMIM:615574
HP:0012758	Neurodevelopmental delay	5538	PPT1	OMIM:256730
HP:0012758	Neurodevelopmental delay	1663	DDX11	OMIM:613398
HP:0012758	Neurodevelopmental delay	51684	SUFU	OMIM:617757
HP:0012758	Neurodevelopmental delay	51684	SUFU	ORPHA:475
HP:0012758	Neurodevelopmental delay	57410	SCYL1	ORPHA:466794
HP:0012758	Neurodevelopmental delay	51663	ZFR	ORPHA:401840
HP:0012758	Neurodevelopmental delay	92935	MARS2	OMIM:616430
HP:0012758	Neurodevelopmental delay	22827	PUF60	OMIM:615583
HP:0012758	Neurodevelopmental delay	22827	PUF60	ORPHA:508488
HP:0012758	Neurodevelopmental delay	10464	PIBF1	OMIM:617767
HP:0012758	Neurodevelopmental delay	10464	PIBF1	ORPHA:475
HP:0012758	Neurodevelopmental delay	2036	EPB41L1	OMIM:614257
HP:0012758	Neurodevelopmental delay	26235	FBXL4	OMIM:615471
HP:0012758	Neurodevelopmental delay	776	CACNA1D	OMIM:615474
HP:0012758	Neurodevelopmental delay	776	CACNA1D	ORPHA:369929
HP:0012758	Neurodevelopmental delay	1763	DNA2	OMIM:620819
HP:0012758	Neurodevelopmental delay	1763	DNA2	OMIM:615807
HP:0012758	Neurodevelopmental delay	5994	RFXAP	OMIM:620817
HP:0012758	Neurodevelopmental delay	55823	VPS11	ORPHA:466934
HP:0012758	Neurodevelopmental delay	55823	VPS11	OMIM:616683
HP:0012758	Neurodevelopmental delay	4897	NRCAM	OMIM:619833
HP:0012758	Neurodevelopmental delay	5927	KDM5A	OMIM:620820
HP:0012758	Neurodevelopmental delay	91801	ALKBH8	OMIM:618504
HP:0012758	Neurodevelopmental delay	51	ACOX1	ORPHA:2971
HP:0012758	Neurodevelopmental delay	4552	MTRR	OMIM:236270
HP:0012758	Neurodevelopmental delay	4552	MTRR	ORPHA:2169
HP:0012758	Neurodevelopmental delay	23498	HAAO	OMIM:617660
HP:0012758	Neurodevelopmental delay	9578	CDC42BPB	OMIM:619841
HP:0012758	Neurodevelopmental delay	65993	MRPS34	OMIM:617664
HP:0012758	Neurodevelopmental delay	6616	SNAP25	OMIM:616330
HP:0012758	Neurodevelopmental delay	387787	LIPT2	OMIM:617668
HP:0012758	Neurodevelopmental delay	1841	DTYMK	OMIM:619847
HP:0012758	Neurodevelopmental delay	27229	TUBGCP4	OMIM:616335
HP:0012758	Neurodevelopmental delay	3149	HMGB3	OMIM:300915
HP:0012758	Neurodevelopmental delay	24142	NAA80	OMIM:620830
HP:0012758	Neurodevelopmental delay	55636	CHD7	ORPHA:138
HP:0012758	Neurodevelopmental delay	55636	CHD7	OMIM:214800
HP:0012758	Neurodevelopmental delay	9723	SEMA3E	ORPHA:138
HP:0012758	Neurodevelopmental delay	23250	ATP11A	OMIM:619851
HP:0012758	Neurodevelopmental delay	5105	PCK1	OMIM:261680
HP:0012758	Neurodevelopmental delay	1020	CDK5	OMIM:616342
HP:0012758	Neurodevelopmental delay	7343	UBTF	OMIM:617672
HP:0012758	Neurodevelopmental delay	7343	UBTF	ORPHA:500180
HP:0012758	Neurodevelopmental delay	7994	KAT6A	ORPHA:457193
HP:0012758	Neurodevelopmental delay	7994	KAT6A	OMIM:616268
HP:0012758	Neurodevelopmental delay	10087	CERT1	OMIM:616351
HP:0012758	Neurodevelopmental delay	1193	CLIC2	ORPHA:324410
HP:0012758	Neurodevelopmental delay	26258	BLOC1S6	OMIM:614171
HP:0012758	Neurodevelopmental delay	6905	TBCE	OMIM:617207
HP:0012758	Neurodevelopmental delay	6905	TBCE	ORPHA:496756
HP:0012758	Neurodevelopmental delay	788	SLC25A20	ORPHA:159
HP:0012758	Neurodevelopmental delay	5518	PPP2R1A	OMIM:616362
HP:0012758	Neurodevelopmental delay	5518	PPP2R1A	ORPHA:457284
HP:0012758	Neurodevelopmental delay	51692	CPSF3	OMIM:619876
HP:0012758	Neurodevelopmental delay	285362	SUMF1	ORPHA:585
HP:0012758	Neurodevelopmental delay	285362	SUMF1	OMIM:272200
HP:0012758	Neurodevelopmental delay	9276	COPB2	OMIM:619884
HP:0012758	Neurodevelopmental delay	9276	COPB2	ORPHA:2512
HP:0012758	Neurodevelopmental delay	4285	MIPEP	OMIM:617228
HP:0012758	Neurodevelopmental delay	10531	PITRM1	OMIM:619405
HP:0012758	Neurodevelopmental delay	23007	PLCH1	OMIM:619895
HP:0012758	Neurodevelopmental delay	3798	KIF5A	OMIM:617235
HP:0012758	Neurodevelopmental delay	57679	ALS2	OMIM:205100
HP:0012758	Neurodevelopmental delay	57679	ALS2	ORPHA:300605
HP:0012758	Neurodevelopmental delay	29960	MRM2	OMIM:618567
HP:0012758	Neurodevelopmental delay	205327	C2orf69	OMIM:619423
HP:0012758	Neurodevelopmental delay	5881	RAC3	OMIM:618577
HP:0012758	Neurodevelopmental delay	26173	INTS1	OMIM:618571
HP:0012758	Neurodevelopmental delay	55656	INTS8	OMIM:618572
HP:0012758	Neurodevelopmental delay	55151	TMEM38B	OMIM:615066
HP:0012758	Neurodevelopmental delay	22930	RAB3GAP1	OMIM:619420
HP:0012758	Neurodevelopmental delay	22930	RAB3GAP1	ORPHA:2510
HP:0012758	Neurodevelopmental delay	7046	TGFBR1	OMIM:609192
HP:0012758	Neurodevelopmental delay	3242	HPD	OMIM:276710
HP:0012758	Neurodevelopmental delay	165918	RNF168	ORPHA:420741
HP:0012758	Neurodevelopmental delay	389827	MYMK	OMIM:254940
HP:0012758	Neurodevelopmental delay	9488	PIGB	OMIM:618580
HP:0012758	Neurodevelopmental delay	51574	LARP7	OMIM:615071
HP:0012758	Neurodevelopmental delay	4558	MT-TF	ORPHA:550
HP:0012758	Neurodevelopmental delay	4572	MT-TQ	ORPHA:550
HP:0012758	Neurodevelopmental delay	4512	MT-CO1	ORPHA:550
HP:0012758	Neurodevelopmental delay	4513	MT-CO2	ORPHA:550
HP:0012758	Neurodevelopmental delay	4514	MT-CO3	ORPHA:550
HP:0012758	Neurodevelopmental delay	4578	MT-TW	ORPHA:550
HP:0012758	Neurodevelopmental delay	4540	MT-ND5	ORPHA:550
HP:0012758	Neurodevelopmental delay	4541	MT-ND6	ORPHA:550
HP:0012758	Neurodevelopmental delay	4535	MT-ND1	ORPHA:550
HP:0012758	Neurodevelopmental delay	4535	MT-ND1	ORPHA:2609
HP:0012758	Neurodevelopmental delay	4538	MT-ND4	ORPHA:550
HP:0012758	Neurodevelopmental delay	4567	MT-TL1	ORPHA:550
HP:0012758	Neurodevelopmental delay	4567	MT-TL1	ORPHA:324525
HP:0012758	Neurodevelopmental delay	4574	MT-TS1	ORPHA:550
HP:0012758	Neurodevelopmental delay	4574	MT-TS1	OMIM:220110
HP:0012758	Neurodevelopmental delay	4575	MT-TS2	ORPHA:550
HP:0012758	Neurodevelopmental delay	4564	MT-TH	ORPHA:550
HP:0012758	Neurodevelopmental delay	57459	GATAD2B	OMIM:615074
HP:0012758	Neurodevelopmental delay	57459	GATAD2B	ORPHA:363686
HP:0012758	Neurodevelopmental delay	84894	LINGO1	OMIM:618103
HP:0012758	Neurodevelopmental delay	8473	OGT	OMIM:300997
HP:0012758	Neurodevelopmental delay	92335	STRADA	ORPHA:500533
HP:0012758	Neurodevelopmental delay	92335	STRADA	OMIM:611087
HP:0012758	Neurodevelopmental delay	2653	GCSH	OMIM:620423
HP:0012758	Neurodevelopmental delay	7707	ZNF148	OMIM:617260
HP:0012758	Neurodevelopmental delay	6299	SALL1	OMIM:107480
HP:0012758	Neurodevelopmental delay	6809	STX3	OMIM:619446
HP:0012758	Neurodevelopmental delay	6809	STX3	ORPHA:2290
HP:0012758	Neurodevelopmental delay	57520	HECW2	OMIM:617268
HP:0012758	Neurodevelopmental delay	3417	IDH1	ORPHA:99646
HP:0012758	Neurodevelopmental delay	56975	FAM20C	OMIM:259775
HP:0012758	Neurodevelopmental delay	537	ATP6AP1	OMIM:300972
HP:0012758	Neurodevelopmental delay	361	AQP4	OMIM:620448
HP:0012758	Neurodevelopmental delay	3376	IARS1	ORPHA:541423
HP:0012758	Neurodevelopmental delay	3376	IARS1	OMIM:617093
HP:0012758	Neurodevelopmental delay	1312	COMT	ORPHA:567
HP:0012758	Neurodevelopmental delay	221037	JMJD1C	ORPHA:567
HP:0012758	Neurodevelopmental delay	2812	GP1BB	ORPHA:567
HP:0012758	Neurodevelopmental delay	2812	GP1BB	ORPHA:853
HP:0012758	Neurodevelopmental delay	6239	RREB1	ORPHA:567
HP:0012758	Neurodevelopmental delay	7290	HIRA	ORPHA:567
HP:0012758	Neurodevelopmental delay	9632	SEC24C	ORPHA:567
HP:0012758	Neurodevelopmental delay	7353	UFD1	ORPHA:567
HP:0012758	Neurodevelopmental delay	421	ARVCF	ORPHA:567
HP:0012758	Neurodevelopmental delay	1009	CDH11	OMIM:211380
HP:0012758	Neurodevelopmental delay	1009	CDH11	OMIM:619736
HP:0012758	Neurodevelopmental delay	6821	SUOX	OMIM:272300
HP:0012758	Neurodevelopmental delay	6557	SLC12A1	OMIM:601678
HP:0012758	Neurodevelopmental delay	23258	DENND5A	OMIM:617281
HP:0012758	Neurodevelopmental delay	3155	HMGCL	OMIM:246450
HP:0012758	Neurodevelopmental delay	2009	EML1	OMIM:600348
HP:0012758	Neurodevelopmental delay	3188	HNRNPH2	OMIM:300986
HP:0012758	Neurodevelopmental delay	9734	HDAC9	OMIM:620457
HP:0012758	Neurodevelopmental delay	4548	MTR	OMIM:250940
HP:0012758	Neurodevelopmental delay	10526	IPO8	OMIM:619472
HP:0012758	Neurodevelopmental delay	54539	NDUFB11	OMIM:300952
HP:0012758	Neurodevelopmental delay	54539	NDUFB11	ORPHA:2556
HP:0012758	Neurodevelopmental delay	54539	NDUFB11	ORPHA:2609
HP:0012758	Neurodevelopmental delay	54539	NDUFB11	OMIM:309801
HP:0012758	Neurodevelopmental delay	94005	PIGS	OMIM:618143
HP:0012758	Neurodevelopmental delay	4762	NEUROG1	OMIM:620469
HP:0012758	Neurodevelopmental delay	10682	EBP	OMIM:300960
HP:0012758	Neurodevelopmental delay	10682	EBP	ORPHA:401973
HP:0012758	Neurodevelopmental delay	283446	MYO1H	OMIM:619482
HP:0012758	Neurodevelopmental delay	374879	ZNF699	OMIM:619488
HP:0012758	Neurodevelopmental delay	28952	CCDC22	OMIM:300963
HP:0012758	Neurodevelopmental delay	28952	CCDC22	ORPHA:7
HP:0012758	Neurodevelopmental delay	2998	GYS2	ORPHA:2089
HP:0012758	Neurodevelopmental delay	3988	LIPA	ORPHA:75233
HP:0012758	Neurodevelopmental delay	403	ARL3	OMIM:618161
HP:0012758	Neurodevelopmental delay	403	ARL3	ORPHA:475
HP:0012758	Neurodevelopmental delay	80267	EDEM3	OMIM:619493
HP:0012758	Neurodevelopmental delay	63899	NSUN3	OMIM:619012
HP:0012758	Neurodevelopmental delay	7157	TP53	OMIM:618165
HP:0012758	Neurodevelopmental delay	2193	FARSA	OMIM:619013
HP:0012758	Neurodevelopmental delay	727676	SNORD118	ORPHA:542310
HP:0012758	Neurodevelopmental delay	727676	SNORD118	OMIM:614561
HP:0012758	Neurodevelopmental delay	26276	VPS33B	OMIM:620009
HP:0012758	Neurodevelopmental delay	26276	VPS33B	OMIM:208085
HP:0012758	Neurodevelopmental delay	203190	LGI3	OMIM:620007
HP:0012758	Neurodevelopmental delay	11043	MID2	OMIM:300928
HP:0012758	Neurodevelopmental delay	3110	MNX1	OMIM:176450
HP:0012758	Neurodevelopmental delay	84081	NSRP1	OMIM:620001
HP:0012758	Neurodevelopmental delay	5468	PPARG	ORPHA:528
HP:0012758	Neurodevelopmental delay	10555	AGPAT2	ORPHA:528
HP:0012758	Neurodevelopmental delay	284119	CAVIN1	ORPHA:528
HP:0012758	Neurodevelopmental delay	2353	FOS	ORPHA:528
HP:0012758	Neurodevelopmental delay	857	CAV1	ORPHA:528
HP:0012758	Neurodevelopmental delay	5498	PPOX	OMIM:620483
HP:0012758	Neurodevelopmental delay	9897	WASHC5	ORPHA:7
HP:0012758	Neurodevelopmental delay	9897	WASHC5	OMIM:220210
HP:0012758	Neurodevelopmental delay	57020	VPS35L	ORPHA:7
HP:0012758	Neurodevelopmental delay	56896	DPYSL5	ORPHA:7
HP:0012758	Neurodevelopmental delay	54936	ADPRS	OMIM:618170
HP:0012758	Neurodevelopmental delay	3030	HADHA	ORPHA:5
HP:0012758	Neurodevelopmental delay	3030	HADHA	OMIM:609015
HP:0012758	Neurodevelopmental delay	80217	CFAP43	OMIM:236690
HP:0012758	Neurodevelopmental delay	114034	TOE1	ORPHA:284339
HP:0012758	Neurodevelopmental delay	114034	TOE1	OMIM:614969
HP:0012758	Neurodevelopmental delay	9562	MINPP1	ORPHA:284339
HP:0012758	Neurodevelopmental delay	2629	GBA1	OMIM:230900
HP:0012758	Neurodevelopmental delay	64432	MRPS25	OMIM:619025
HP:0012758	Neurodevelopmental delay	84274	COQ5	OMIM:619028
HP:0012758	Neurodevelopmental delay	79693	YRDC	ORPHA:2065
HP:0012758	Neurodevelopmental delay	65055	REEP1	OMIM:620011
HP:0012758	Neurodevelopmental delay	2760	GM2A	OMIM:272750
HP:0012758	Neurodevelopmental delay	1183	CLCN4	OMIM:300114
HP:0012758	Neurodevelopmental delay	1183	CLCN4	ORPHA:485350
HP:0012758	Neurodevelopmental delay	5393	EXOSC9	OMIM:618065
HP:0012758	Neurodevelopmental delay	5393	EXOSC9	ORPHA:2254
HP:0012758	Neurodevelopmental delay	5009	OTC	OMIM:311250
HP:0012758	Neurodevelopmental delay	57539	WDR35	OMIM:613610
HP:0012758	Neurodevelopmental delay	1278	COL1A2	ORPHA:230851
HP:0012758	Neurodevelopmental delay	51506	UFC1	OMIM:618076
HP:0012758	Neurodevelopmental delay	6662	SOX9	OMIM:114290
HP:0012758	Neurodevelopmental delay	10225	CD96	OMIM:211750
HP:0012758	Neurodevelopmental delay	271	AMPD2	OMIM:615809
HP:0012758	Neurodevelopmental delay	7175	TPR	OMIM:620393
HP:0012758	Neurodevelopmental delay	93210	PGAP3	ORPHA:247262
HP:0012758	Neurodevelopmental delay	93210	PGAP3	OMIM:615716
HP:0012758	Neurodevelopmental delay	64207	IRF2BPL	OMIM:618088
HP:0012758	Neurodevelopmental delay	5119	CHMP1A	OMIM:614961
HP:0012758	Neurodevelopmental delay	84876	ORAI1	OMIM:612782
HP:0012758	Neurodevelopmental delay	8792	TNFRSF11A	OMIM:612301
HP:0012758	Neurodevelopmental delay	5624	PROC	OMIM:612304
HP:0012758	Neurodevelopmental delay	5238	PGM3	OMIM:615816
HP:0012758	Neurodevelopmental delay	11232	POLG2	OMIM:610131
HP:0012758	Neurodevelopmental delay	1954	MEGF8	OMIM:614976
HP:0012758	Neurodevelopmental delay	84300	UQCC2	OMIM:615824
HP:0012758	Neurodevelopmental delay	113235	SLC46A1	OMIM:229050
HP:0012758	Neurodevelopmental delay	113235	SLC46A1	ORPHA:90045
HP:0012758	Neurodevelopmental delay	4036	LRP2	ORPHA:2143
HP:0012758	Neurodevelopmental delay	4036	LRP2	OMIM:222448
HP:0012758	Neurodevelopmental delay	3425	IDUA	OMIM:607014
HP:0012758	Neurodevelopmental delay	3425	IDUA	ORPHA:93473
HP:0012758	Neurodevelopmental delay	9907	AP5Z1	OMIM:613647
HP:0012758	Neurodevelopmental delay	165	AEBP1	ORPHA:536532
HP:0012758	Neurodevelopmental delay	3418	IDH2	OMIM:613657
HP:0012758	Neurodevelopmental delay	90624	LYRM7	OMIM:615838
HP:0012758	Neurodevelopmental delay	10056	FARSB	OMIM:613658
HP:0012758	Neurodevelopmental delay	3748	KCNC3	ORPHA:98768
HP:0012758	Neurodevelopmental delay	4094	MAF	ORPHA:1272
HP:0012758	Neurodevelopmental delay	440138	ALG11	OMIM:613661
HP:0012758	Neurodevelopmental delay	440138	ALG11	ORPHA:280071
HP:0012758	Neurodevelopmental delay	1910	EDNRB	OMIM:277580
HP:0012758	Neurodevelopmental delay	9440	MED17	OMIM:613668
HP:0012758	Neurodevelopmental delay	57393	CLTRN	ORPHA:2116
HP:0012758	Neurodevelopmental delay	55275	VPS53	OMIM:615851
HP:0012758	Neurodevelopmental delay	7048	TGFBR2	OMIM:610168
HP:0012758	Neurodevelopmental delay	445	ASS1	OMIM:215700
HP:0012758	Neurodevelopmental delay	85440	DOCK7	OMIM:615859
HP:0012758	Neurodevelopmental delay	7546	ZIC2	OMIM:609637
HP:0012758	Neurodevelopmental delay	339453	TMEM240	OMIM:607454
HP:0012758	Neurodevelopmental delay	54704	PDP1	OMIM:608782
HP:0012758	Neurodevelopmental delay	5979	RET	OMIM:162300
HP:0012758	Neurodevelopmental delay	2245	FGD1	OMIM:305400
HP:0012758	Neurodevelopmental delay	64116	SLC39A8	OMIM:616721
HP:0012758	Neurodevelopmental delay	79796	ALG9	OMIM:608776
HP:0012758	Neurodevelopmental delay	79796	ALG9	ORPHA:79328
HP:0012758	Neurodevelopmental delay	546	ATRX	OMIM:301040
HP:0012758	Neurodevelopmental delay	55593	OTUD5	OMIM:301056
HP:0012758	Neurodevelopmental delay	5160	PDHA1	OMIM:312170
HP:0012758	Neurodevelopmental delay	10229	COQ7	OMIM:616733
HP:0012758	Neurodevelopmental delay	11151	CORO1A	OMIM:615401
HP:0012758	Neurodevelopmental delay	83479	DDX59	OMIM:174300
HP:0012758	Neurodevelopmental delay	169792	GLIS3	OMIM:610199
HP:0012758	Neurodevelopmental delay	998	CDC42	OMIM:616737
HP:0012758	Neurodevelopmental delay	998	CDC42	ORPHA:487796
HP:0012758	Neurodevelopmental delay	27235	COQ2	OMIM:607426
HP:0012758	Neurodevelopmental delay	3796	KIF2A	OMIM:615411
HP:0012758	Neurodevelopmental delay	81620	CDT1	ORPHA:2554
HP:0012758	Neurodevelopmental delay	5000	ORC4	ORPHA:2554
HP:0012758	Neurodevelopmental delay	4998	ORC1	ORPHA:2554
HP:0012758	Neurodevelopmental delay	1000	CDH2	OMIM:618929
HP:0012758	Neurodevelopmental delay	3052	HCCS	ORPHA:2556
HP:0012758	Neurodevelopmental delay	3052	HCCS	OMIM:309801
HP:0012758	Neurodevelopmental delay	60	ACTB	ORPHA:79107
HP:0012758	Neurodevelopmental delay	60	ACTB	OMIM:243310
HP:0012758	Neurodevelopmental delay	60	ACTB	ORPHA:2995
HP:0012758	Neurodevelopmental delay	51185	CRBN	OMIM:607417
HP:0012758	Neurodevelopmental delay	84061	MAGT1	OMIM:301031
HP:0012758	Neurodevelopmental delay	79576	NKAP	OMIM:301039
HP:0012758	Neurodevelopmental delay	8985	PLOD3	OMIM:612394
HP:0012758	Neurodevelopmental delay	25	ABL1	OMIM:617602
HP:0012758	Neurodevelopmental delay	29980	DONSON	OMIM:617604
HP:0012758	Neurodevelopmental delay	538	ATP7A	ORPHA:198
HP:0012758	Neurodevelopmental delay	538	ATP7A	OMIM:304150
HP:0012758	Neurodevelopmental delay	11222	MRPL3	OMIM:614582
HP:0012758	Neurodevelopmental delay	81689	ISCA1	OMIM:617613
HP:0012758	Neurodevelopmental delay	64857	PLEKHG2	OMIM:616763
HP:0012758	Neurodevelopmental delay	51520	LARS1	OMIM:615438
HP:0012758	Neurodevelopmental delay	4329	ALDH6A1	OMIM:614105
HP:0012758	Neurodevelopmental delay	80781	COL18A1	OMIM:267750
HP:0012758	Neurodevelopmental delay	63932	STEEP1	OMIM:301013
HP:0012758	Neurodevelopmental delay	55617	TASP1	OMIM:618950
HP:0012758	Neurodevelopmental delay	6182	MRPL12	OMIM:618951
HP:0012758	Neurodevelopmental delay	114928	GPRASP2	OMIM:301018
HP:0012758	Neurodevelopmental delay	60528	ELAC2	OMIM:615440
HP:0012758	Neurodevelopmental delay	10293	TRAIP	OMIM:616777
HP:0012758	Neurodevelopmental delay	10319	LAMC3	OMIM:614115
HP:0012758	Neurodevelopmental delay	3832	KIF11	ORPHA:2526
HP:0012758	Neurodevelopmental delay	4190	MDH1	OMIM:618959
HP:0012758	Neurodevelopmental delay	617	BCS1L	OMIM:124000
HP:0012758	Neurodevelopmental delay	113246	C12orf57	OMIM:218340
HP:0012758	Neurodevelopmental delay	7991	TUSC3	OMIM:611093
HP:0012758	Neurodevelopmental delay	23247	KATNIP	OMIM:616784
HP:0012758	Neurodevelopmental delay	23247	KATNIP	ORPHA:475
HP:0012758	Neurodevelopmental delay	6651	SON	ORPHA:500150
HP:0012758	Neurodevelopmental delay	6651	SON	OMIM:617140
HP:0012758	Neurodevelopmental delay	5879	RAC1	ORPHA:500159
HP:0012758	Neurodevelopmental delay	9939	RBM8A	OMIM:274000
HP:0012758	Neurodevelopmental delay	71	ACTG1	ORPHA:2995
HP:0012758	Neurodevelopmental delay	9928	KIF14	ORPHA:2512
HP:0012758	Neurodevelopmental delay	22995	CEP152	ORPHA:2512
HP:0012758	Neurodevelopmental delay	4176	MCM7	ORPHA:2512
HP:0012758	Neurodevelopmental delay	79023	NUP37	ORPHA:2512
HP:0012758	Neurodevelopmental delay	23310	NCAPD3	ORPHA:2512
HP:0012758	Neurodevelopmental delay	79648	MCPH1	ORPHA:2512
HP:0012758	Neurodevelopmental delay	6491	STIL	ORPHA:2512
HP:0012758	Neurodevelopmental delay	6491	STIL	OMIM:612703
HP:0012758	Neurodevelopmental delay	23141	ANKLE2	ORPHA:2512
HP:0012758	Neurodevelopmental delay	23141	ANKLE2	OMIM:616681
HP:0012758	Neurodevelopmental delay	1911	PHC1	ORPHA:2512
HP:0012758	Neurodevelopmental delay	9662	CEP135	ORPHA:2512
HP:0012758	Neurodevelopmental delay	1021	CDK6	ORPHA:2512
HP:0012758	Neurodevelopmental delay	55553	SOX6	OMIM:618971
HP:0012758	Neurodevelopmental delay	8884	SLC5A6	OMIM:618973
HP:0012758	Neurodevelopmental delay	115286	SLC25A26	OMIM:616794
HP:0012758	Neurodevelopmental delay	8625	RFXANK	OMIM:620815
HP:0012758	Neurodevelopmental delay	55367	PIDD1	OMIM:619827
HP:0012758	Neurodevelopmental delay	10749	KIF1C	ORPHA:397946
HP:0012758	Neurodevelopmental delay	8036	SHOC2	OMIM:607721
HP:0012758	Neurodevelopmental delay	4716	NDUFB10	ORPHA:2609
HP:0012758	Neurodevelopmental delay	284184	NDUFAF8	ORPHA:2609
HP:0012758	Neurodevelopmental delay	55863	TMEM126B	ORPHA:2609
HP:0012758	Neurodevelopmental delay	4537	MT-ND3	ORPHA:2609
HP:0012758	Neurodevelopmental delay	4729	NDUFV2	ORPHA:2609
HP:0012758	Neurodevelopmental delay	4726	NDUFS6	ORPHA:2609
HP:0012758	Neurodevelopmental delay	4722	NDUFS3	ORPHA:2609
HP:0012758	Neurodevelopmental delay	29078	NDUFAF4	ORPHA:2609
HP:0012758	Neurodevelopmental delay	374291	NDUFS7	ORPHA:2609
HP:0012758	Neurodevelopmental delay	4536	MT-ND2	ORPHA:2609
HP:0012758	Neurodevelopmental delay	4715	NDUFB9	ORPHA:2609
HP:0012758	Neurodevelopmental delay	4099	MAG	OMIM:616680
HP:0012758	Neurodevelopmental delay	4099	MAG	ORPHA:459056
HP:0012758	Neurodevelopmental delay	104	ADARB1	OMIM:618862
HP:0012758	Neurodevelopmental delay	50651	SLC45A1	OMIM:617532
HP:0012758	Neurodevelopmental delay	3145	HMBS	OMIM:620704
HP:0012758	Neurodevelopmental delay	51126	NAA20	OMIM:619717
HP:0012758	Neurodevelopmental delay	60684	TRAPPC11	OMIM:615356
HP:0012758	Neurodevelopmental delay	60684	TRAPPC11	ORPHA:369847
HP:0012758	Neurodevelopmental delay	9231	DLG5	OMIM:620703
HP:0012758	Neurodevelopmental delay	3008	H1-4	OMIM:617537
HP:0012758	Neurodevelopmental delay	79783	SUGCT	ORPHA:35706
HP:0012758	Neurodevelopmental delay	5339	PLEC	ORPHA:254361
HP:0012758	Neurodevelopmental delay	3021	H3-3B	OMIM:619721
HP:0012758	Neurodevelopmental delay	10300	KATNB1	OMIM:616212
HP:0012758	Neurodevelopmental delay	3162	HMOX1	OMIM:614034
HP:0012758	Neurodevelopmental delay	1644	DDC	ORPHA:35708
HP:0012758	Neurodevelopmental delay	1644	DDC	OMIM:608643
HP:0012758	Neurodevelopmental delay	10026	PIGK	OMIM:618879
HP:0012758	Neurodevelopmental delay	4056	LTC4S	OMIM:614037
HP:0012758	Neurodevelopmental delay	79639	TMEM53	OMIM:619727
HP:0012758	Neurodevelopmental delay	375387	NRROS	OMIM:618875
HP:0012758	Neurodevelopmental delay	4149	MAX	OMIM:620712
HP:0012758	Neurodevelopmental delay	6440	SFTPC	OMIM:610913
HP:0012758	Neurodevelopmental delay	64175	P3H1	OMIM:610915
HP:0012758	Neurodevelopmental delay	130589	GALM	OMIM:618881
HP:0012758	Neurodevelopmental delay	9692	PRORP	OMIM:619737
HP:0012758	Neurodevelopmental delay	4853	NOTCH2	OMIM:102500
HP:0012758	Neurodevelopmental delay	6773	STAT2	OMIM:618886
HP:0012758	Neurodevelopmental delay	7920	ABHD16A	OMIM:619735
HP:0012758	Neurodevelopmental delay	23761	PISD	OMIM:618889
HP:0012758	Neurodevelopmental delay	84504	NKX6-2	OMIM:617560
HP:0012758	Neurodevelopmental delay	84504	NKX6-2	ORPHA:527497
HP:0012758	Neurodevelopmental delay	54968	TMEM70	OMIM:614052
HP:0012758	Neurodevelopmental delay	39	ACAT2	OMIM:614055
HP:0012758	Neurodevelopmental delay	84314	TMEM107	OMIM:617563
HP:0012758	Neurodevelopmental delay	84314	TMEM107	OMIM:617562
HP:0012758	Neurodevelopmental delay	79731	NARS2	OMIM:616239
HP:0012758	Neurodevelopmental delay	55361	PI4K2A	OMIM:620732
HP:0012758	Neurodevelopmental delay	79600	TCTN1	ORPHA:475
HP:0012758	Neurodevelopmental delay	200894	ARL13B	ORPHA:475
HP:0012758	Neurodevelopmental delay	200894	ARL13B	OMIM:612291
HP:0012758	Neurodevelopmental delay	219844	HYLS1	ORPHA:475
HP:0012758	Neurodevelopmental delay	79867	TCTN2	ORPHA:475
HP:0012758	Neurodevelopmental delay	79867	TCTN2	OMIM:616654
HP:0012758	Neurodevelopmental delay	80776	B9D2	ORPHA:475
HP:0012758	Neurodevelopmental delay	25776	CBY1	ORPHA:475
HP:0012758	Neurodevelopmental delay	27077	B9D1	ORPHA:475
HP:0012758	Neurodevelopmental delay	27077	B9D1	OMIM:617120
HP:0012758	Neurodevelopmental delay	1947	EFNB1	OMIM:304110
HP:0012758	Neurodevelopmental delay	339983	NAT8L	OMIM:614063
HP:0012758	Neurodevelopmental delay	8879	SGPL1	OMIM:617575
HP:0012758	Neurodevelopmental delay	51604	PIGT	OMIM:615398
HP:0012758	Neurodevelopmental delay	4613	MYCN	OMIM:620748
HP:0012758	Neurodevelopmental delay	7531	YWHAE	ORPHA:217385
HP:0012758	Neurodevelopmental delay	57282	SLC4A10	OMIM:620746
HP:0012758	Neurodevelopmental delay	9841	ZBTB24	OMIM:614069
HP:0012758	Neurodevelopmental delay	9841	ZBTB24	ORPHA:2268
HP:0012758	Neurodevelopmental delay	391356	PTRHD1	OMIM:620747
HP:0012758	Neurodevelopmental delay	8021	NUP214	OMIM:618426
HP:0012758	Neurodevelopmental delay	2643	GCH1	OMIM:233910
HP:0012758	Neurodevelopmental delay	8517	IKBKG	ORPHA:464
HP:0012758	Neurodevelopmental delay	4247	MGAT2	ORPHA:79329
HP:0012758	Neurodevelopmental delay	79803	HPS6	OMIM:614075
HP:0012758	Neurodevelopmental delay	53335	BCL11A	OMIM:617101
HP:0012758	Neurodevelopmental delay	9474	ATG5	OMIM:617584
HP:0012758	Neurodevelopmental delay	2729	GCLC	ORPHA:33574
HP:0012758	Neurodevelopmental delay	2556	GABRA3	OMIM:301091
HP:0012758	Neurodevelopmental delay	2271	FH	OMIM:606812
HP:0012758	Neurodevelopmental delay	51651	PTRH2	OMIM:616263
HP:0012758	Neurodevelopmental delay	51651	PTRH2	ORPHA:456312
HP:0012758	Neurodevelopmental delay	23162	MAPK8IP3	OMIM:618443
HP:0012758	Neurodevelopmental delay	339855	KY	OMIM:617114
HP:0012758	Neurodevelopmental delay	388662	SLC6A17	OMIM:616269
HP:0012758	Neurodevelopmental delay	388662	SLC6A17	ORPHA:457212
HP:0012758	Neurodevelopmental delay	10195	ALG3	ORPHA:79321
HP:0012758	Neurodevelopmental delay	10195	ALG3	OMIM:601110
HP:0012758	Neurodevelopmental delay	79053	ALG8	ORPHA:79325
HP:0012758	Neurodevelopmental delay	57192	MCOLN1	OMIM:252650
HP:0012758	Neurodevelopmental delay	3756	KCNH1	OMIM:611816
HP:0012758	Neurodevelopmental delay	1892	ECHS1	OMIM:616277
HP:0012758	Neurodevelopmental delay	51117	COQ4	OMIM:616276
HP:0012758	Neurodevelopmental delay	3658	IREB2	OMIM:618451
HP:0012758	Neurodevelopmental delay	3763	KCNJ6	OMIM:614098
HP:0012758	Neurodevelopmental delay	6878	TAF6	OMIM:617126
HP:0012758	Neurodevelopmental delay	58497	PRUNE1	ORPHA:544469
HP:0012758	Neurodevelopmental delay	51013	EXOSC1	OMIM:619304
HP:0012758	Neurodevelopmental delay	5062	PAK2	OMIM:618458
HP:0012758	Neurodevelopmental delay	9900	SV2A	OMIM:620772
HP:0012758	Neurodevelopmental delay	54892	NCAPG2	OMIM:618460
HP:0012758	Neurodevelopmental delay	2355	FOSL2	OMIM:620789
HP:0012758	Neurodevelopmental delay	6650	CAPN15	OMIM:619318
HP:0012758	Neurodevelopmental delay	3032	HADHB	OMIM:620300
HP:0012758	Neurodevelopmental delay	3786	KCNQ3	OMIM:121201
HP:0012758	Neurodevelopmental delay	10102	TSFM	OMIM:610505
HP:0012758	Neurodevelopmental delay	1436	CSF1R	OMIM:618476
HP:0012758	Neurodevelopmental delay	29998	BICRA	OMIM:619325
HP:0012758	Neurodevelopmental delay	51601	LIPT1	OMIM:616299
HP:0012758	Neurodevelopmental delay	29968	PSAT1	OMIM:610992
HP:0012758	Neurodevelopmental delay	4081	MAB21L1	OMIM:618479
HP:0012758	Neurodevelopmental delay	1654	DDX3X	ORPHA:457260
HP:0012758	Neurodevelopmental delay	157922	CAMSAP1	OMIM:620316
HP:0012758	Neurodevelopmental delay	10073	SNUPN	OMIM:620793
HP:0012758	Neurodevelopmental delay	1282	COL4A1	ORPHA:899
HP:0012758	Neurodevelopmental delay	729920	CRPPA	ORPHA:899
HP:0012758	Neurodevelopmental delay	10329	RXYLT1	ORPHA:899
HP:0012758	Neurodevelopmental delay	8869	ST3GAL5	OMIM:609056
HP:0012758	Neurodevelopmental delay	2560	GABRB1	OMIM:617153
HP:0012758	Neurodevelopmental delay	23221	RHOBTB2	OMIM:618004
HP:0012758	Neurodevelopmental delay	23229	ARHGEF9	OMIM:300607
HP:0012758	Neurodevelopmental delay	1108	CHD4	OMIM:617159
HP:0012758	Neurodevelopmental delay	400569	MED11	OMIM:620327
HP:0012758	Neurodevelopmental delay	372	ARCN1	OMIM:617164
HP:0012758	Neurodevelopmental delay	54681	P4HTM	OMIM:618493
HP:0012758	Neurodevelopmental delay	5283	PIGH	OMIM:618010
HP:0012758	Neurodevelopmental delay	1822	ATN1	OMIM:618494
HP:0012758	Neurodevelopmental delay	84896	ATAD1	OMIM:618011
HP:0012758	Neurodevelopmental delay	51305	KCNK9	ORPHA:166108
HP:0012758	Neurodevelopmental delay	51305	KCNK9	OMIM:612292
HP:0012758	Neurodevelopmental delay	84668	HYCC1	OMIM:610532
HP:0012758	Neurodevelopmental delay	84668	HYCC1	ORPHA:85163
HP:0012758	Neurodevelopmental delay	84701	COX4I2	OMIM:612714
HP:0012758	Neurodevelopmental delay	5281	PIGF	OMIM:619356
HP:0012758	Neurodevelopmental delay	28962	OSTM1	ORPHA:85179
HP:0012758	Neurodevelopmental delay	57514	ARHGAP31	OMIM:100300
HP:0012758	Neurodevelopmental delay	128240	NAXE	OMIM:617186
HP:0012758	Neurodevelopmental delay	79143	MBOAT7	OMIM:617188
HP:0012758	Neurodevelopmental delay	539	ATP5PO	OMIM:620359
HP:0012758	Neurodevelopmental delay	2811	GP1BA	ORPHA:853
HP:0012758	Neurodevelopmental delay	3674	ITGA2B	ORPHA:853
HP:0012758	Neurodevelopmental delay	3673	ITGA2	ORPHA:853
HP:0012758	Neurodevelopmental delay	135228	CD109	ORPHA:853
HP:0012758	Neurodevelopmental delay	3690	ITGB3	ORPHA:853
HP:0012758	Neurodevelopmental delay	55898	UNC45A	OMIM:619377
HP:0012758	Neurodevelopmental delay	6571	SLC18A2	OMIM:618049
HP:0012758	Neurodevelopmental delay	6571	SLC18A2	ORPHA:352649
HP:0012758	Neurodevelopmental delay	5236	PGM1	OMIM:614921
HP:0012758	Neurodevelopmental delay	55005	RMND1	OMIM:614922
HP:0012758	Neurodevelopmental delay	3295	HSD17B4	OMIM:261515
HP:0012758	Neurodevelopmental delay	10295	BCKDK	OMIM:614923
HP:0012758	Neurodevelopmental delay	124454	EARS2	OMIM:614924
HP:0012758	Neurodevelopmental delay	129285	PPP1R21	OMIM:619383
HP:0012758	Neurodevelopmental delay	27072	VPS41	OMIM:619389
HP:0012758	Neurodevelopmental delay	341208	HEPHL1	OMIM:261990
HP:0012758	Neurodevelopmental delay	6584	SLC22A5	OMIM:212140
HP:0012758	Neurodevelopmental delay	81555	YIPF5	OMIM:619278
HP:0012758	Neurodevelopmental delay	4570	MT-TN	OMIM:220110
HP:0012758	Neurodevelopmental delay	6834	SURF1	OMIM:220110
HP:0012758	Neurodevelopmental delay	4645	MYO5B	ORPHA:2290
HP:0012758	Neurodevelopmental delay	347734	SLC35B2	OMIM:620269
HP:0012758	Neurodevelopmental delay	9690	UBE3C	OMIM:620270
HP:0012758	Neurodevelopmental delay	3899	AFF3	OMIM:619297
HP:0012758	Neurodevelopmental delay	1757	SARDH	ORPHA:3129
HP:0012758	Neurodevelopmental delay	36	ACADSB	OMIM:610006
HP:0012758	Neurodevelopmental delay	7841	MOGS	OMIM:606056
HP:0012758	Neurodevelopmental delay	29128	UHRF1	ORPHA:2268
HP:0012758	Neurodevelopmental delay	1789	DNMT3B	ORPHA:2268
HP:0012758	Neurodevelopmental delay	4338	MOCS2	OMIM:252160
HP:0012758	Neurodevelopmental delay	5826	ABCD4	OMIM:614857
HP:0012758	Neurodevelopmental delay	1857	DVL3	ORPHA:3107
HP:0012758	Neurodevelopmental delay	2535	FZD2	ORPHA:3107
HP:0012758	Neurodevelopmental delay	9255	AIMP1	OMIM:260600
HP:0012758	Neurodevelopmental delay	4952	OCRL	OMIM:309000
HP:0012758	Neurodevelopmental delay	157570	ESCO2	ORPHA:3103
HP:0012758	Neurodevelopmental delay	78989	COLEC11	OMIM:265050
HP:0012758	Neurodevelopmental delay	728294	D2HGDH	OMIM:600721
HP:0012758	Neurodevelopmental delay	2521	FUS	ORPHA:300605
HP:0012758	Neurodevelopmental delay	80208	SPG11	ORPHA:300605
HP:0012758	Neurodevelopmental delay	10280	SIGMAR1	ORPHA:300605
HP:0012758	Neurodevelopmental delay	10558	SPTLC1	ORPHA:300605
HP:0012758	Neurodevelopmental delay	162417	NAGS	ORPHA:927
HP:0012758	Neurodevelopmental delay	10165	SLC25A13	ORPHA:247585
HP:0012758	Neurodevelopmental delay	11023	VAX1	OMIM:614402
HP:0012758	Neurodevelopmental delay	51199	NIN	ORPHA:319675
HP:0012758	Neurodevelopmental delay	3329	HSPD1	OMIM:612233
HP:0012758	Neurodevelopmental delay	2554	GABRA1	OMIM:615744
HP:0012758	Neurodevelopmental delay	10695	CNPY3	OMIM:617929
HP:0012758	Neurodevelopmental delay	763	CA5A	OMIM:615751
HP:0012758	Neurodevelopmental delay	7545	ZIC1	OMIM:616602
HP:0012758	Neurodevelopmental delay	27249	MMADHC	OMIM:277410
HP:0012758	Neurodevelopmental delay	27249	MMADHC	ORPHA:79283
HP:0012758	Neurodevelopmental delay	79631	EFL1	OMIM:617941
HP:0012758	Neurodevelopmental delay	5053	PAH	ORPHA:79254
HP:0012758	Neurodevelopmental delay	5053	PAH	ORPHA:2209
HP:0012758	Neurodevelopmental delay	64221	ROBO3	OMIM:607313
HP:0012758	Neurodevelopmental delay	5932	RBBP8	OMIM:251255
HP:0012758	Neurodevelopmental delay	7849	PAX8	ORPHA:95720
HP:0012758	Neurodevelopmental delay	7849	PAX8	ORPHA:95713
HP:0012758	Neurodevelopmental delay	7849	PAX8	ORPHA:95712
HP:0012758	Neurodevelopmental delay	5172	SLC26A4	ORPHA:95720
HP:0012758	Neurodevelopmental delay	5172	SLC26A4	ORPHA:95713
HP:0012758	Neurodevelopmental delay	2542	SLC37A4	ORPHA:79259
HP:0012758	Neurodevelopmental delay	51116	MRPS2	OMIM:617950
HP:0012758	Neurodevelopmental delay	9512	PMPCB	OMIM:617954
HP:0012758	Neurodevelopmental delay	1482	NKX2-5	ORPHA:95713
HP:0012758	Neurodevelopmental delay	1482	NKX2-5	ORPHA:95712
HP:0012758	Neurodevelopmental delay	2058	EPRS1	OMIM:617951
HP:0012758	Neurodevelopmental delay	9056	SLC7A7	OMIM:222700
HP:0012758	Neurodevelopmental delay	6785	ELOVL4	OMIM:614457
HP:0012758	Neurodevelopmental delay	5116	PCNT	OMIM:210720
HP:0012758	Neurodevelopmental delay	5116	PCNT	ORPHA:2637
HP:0012758	Neurodevelopmental delay	11019	LIAS	OMIM:614462
HP:0012758	Neurodevelopmental delay	9791	PTDSS1	ORPHA:2658
HP:0012758	Neurodevelopmental delay	4659	PPP1R12A	OMIM:618820
HP:0012758	Neurodevelopmental delay	3704	ITPA	OMIM:616647
HP:0012758	Neurodevelopmental delay	56270	WDR45B	OMIM:617977
HP:0012758	Neurodevelopmental delay	22934	RPIA	OMIM:608611
HP:0012758	Neurodevelopmental delay	22871	NLGN1	OMIM:618830
HP:0012758	Neurodevelopmental delay	2670	GFAP	ORPHA:363717
HP:0012758	Neurodevelopmental delay	54676	GTPBP2	OMIM:617988
HP:0012758	Neurodevelopmental delay	100506658	OCLN	OMIM:251290
HP:0012758	Neurodevelopmental delay	5296	PIK3R2	OMIM:603387
HP:0012758	Neurodevelopmental delay	3920	LAMP2	OMIM:300257
HP:0012758	Neurodevelopmental delay	1284	COL4A2	OMIM:614483
HP:0012758	Neurodevelopmental delay	51294	PCDH12	OMIM:251280
HP:0012758	Neurodevelopmental delay	57731	SPTBN4	OMIM:617519
HP:0012758	Neurodevelopmental delay	64072	CDH23	ORPHA:231169
HP:0012758	Neurodevelopmental delay	10083	USH1C	ORPHA:231169
HP:0012758	Neurodevelopmental delay	124590	USH1G	ORPHA:231169
HP:0012758	Neurodevelopmental delay	83715	ESPN	ORPHA:231169
HP:0012758	Neurodevelopmental delay	10518	CIB2	ORPHA:231169
HP:0012758	Neurodevelopmental delay	4647	MYO7A	ORPHA:231169
HP:0012758	Neurodevelopmental delay	65217	PCDH15	ORPHA:231169
HP:0012758	Neurodevelopmental delay	29071	C1GALT1C1	OMIM:301110
HP:0012758	Neurodevelopmental delay	4747	NEFL	OMIM:607734
HP:0012758	Neurodevelopmental delay	51733	UPB1	OMIM:613161
HP:0012758	Neurodevelopmental delay	28985	MCTS1	OMIM:301115
HP:0012758	Neurodevelopmental delay	18	ABAT	OMIM:613163
HP:0012758	Neurodevelopmental delay	80169	CTC1	ORPHA:1775
HP:0012758	Neurodevelopmental delay	55651	NHP2	ORPHA:1775
HP:0012758	Neurodevelopmental delay	79650	USB1	ORPHA:1775
HP:0012758	Neurodevelopmental delay	55135	WRAP53	ORPHA:1775
HP:0012758	Neurodevelopmental delay	4869	NPM1	ORPHA:1775
HP:0012758	Neurodevelopmental delay	7012	TERC	ORPHA:1775
HP:0012758	Neurodevelopmental delay	55505	NOP10	ORPHA:1775
HP:0012758	Neurodevelopmental delay	7298	TYMS	ORPHA:1775
HP:0012758	Neurodevelopmental delay	85378	TUBGCP6	OMIM:251270
HP:0012758	Neurodevelopmental delay	96459	FNIP1	OMIM:619705
HP:0012758	Neurodevelopmental delay	25871	NEPRO	OMIM:618853
HP:0012758	Neurodevelopmental delay	55753	OGDHL	OMIM:619701
HP:0012758	Neurodevelopmental delay	22868	FASTKD2	OMIM:618855
HP:0012758	Neurodevelopmental delay	5052	PRDX1	OMIM:277400
HP:0012758	Neurodevelopmental delay	1145	CHRNE	OMIM:608931
HP:0012758	Neurodevelopmental delay	2673	GFPT1	OMIM:608931
HP:0012758	Neurodevelopmental delay	2673	GFPT1	OMIM:610542
HP:0012758	Neurodevelopmental delay	2673	GFPT1	ORPHA:353327
HP:0012758	Neurodevelopmental delay	54101	RIPK4	ORPHA:1401
HP:0012758	Neurodevelopmental delay	1024	CDK8	OMIM:618748
HP:0012758	Neurodevelopmental delay	1144	CHRND	OMIM:616323
HP:0012758	Neurodevelopmental delay	4919	ROR1	OMIM:617654
HP:0012758	Neurodevelopmental delay	6228	RPS23	OMIM:617412
HP:0012758	Neurodevelopmental delay	1134	CHRNA1	OMIM:608930
HP:0012758	Neurodevelopmental delay	283120	H19	ORPHA:231140
HP:0012758	Neurodevelopmental delay	283120	H19	ORPHA:231144
HP:0012758	Neurodevelopmental delay	54344	DPM3	OMIM:618992
HP:0012758	Neurodevelopmental delay	84466	MEGF10	OMIM:614399
HP:0012758	Neurodevelopmental delay	84466	MEGF10	OMIM:620249
HP:0012758	Neurodevelopmental delay	64834	ELOVL1	OMIM:618527
HP:0012758	Neurodevelopmental delay	1777	DNASE2	OMIM:619858
HP:0012758	Neurodevelopmental delay	54332	GDAP1	ORPHA:101097
HP:0012758	Neurodevelopmental delay	54332	GDAP1	OMIM:214400
HP:0012758	Neurodevelopmental delay	54332	GDAP1	ORPHA:99948
HP:0012758	Neurodevelopmental delay	54332	GDAP1	ORPHA:99944
HP:0012758	Neurodevelopmental delay	9401	RECQL4	OMIM:218600
HP:0012758	Neurodevelopmental delay	1594	CYP27B1	OMIM:264700
HP:0012758	Neurodevelopmental delay	1594	CYP27B1	ORPHA:289157
HP:0012758	Neurodevelopmental delay	7386	UQCRFS1	OMIM:618775
HP:0012758	Neurodevelopmental delay	4359	MPZ	ORPHA:101082
HP:0012758	Neurodevelopmental delay	4359	MPZ	OMIM:180800
HP:0012758	Neurodevelopmental delay	4359	MPZ	OMIM:618184
HP:0012758	Neurodevelopmental delay	4359	MPZ	OMIM:145900
HP:0012758	Neurodevelopmental delay	26154	ABCA12	OMIM:242500
HP:0012758	Neurodevelopmental delay	1187	CLCNKA	OMIM:613090
HP:0012758	Neurodevelopmental delay	1187	CLCNKA	ORPHA:89938
HP:0012758	Neurodevelopmental delay	1188	CLCNKB	OMIM:613090
HP:0012758	Neurodevelopmental delay	1188	CLCNKB	ORPHA:89938
HP:0012758	Neurodevelopmental delay	120227	CYP2R1	ORPHA:289157
HP:0012758	Neurodevelopmental delay	5357	PLS1	OMIM:618787
HP:0012758	Neurodevelopmental delay	1615	DARS1	OMIM:615281
HP:0012758	Neurodevelopmental delay	253959	RALGAPA1	OMIM:618797
HP:0012758	Neurodevelopmental delay	6329	SCN4A	OMIM:614198
HP:0012758	Neurodevelopmental delay	6329	SCN4A	OMIM:620351
HP:0012758	Neurodevelopmental delay	6329	SCN4A	OMIM:620369
HP:0012758	Neurodevelopmental delay	124583	CANT1	OMIM:251450
HP:0012758	Neurodevelopmental delay	38	ACAT1	ORPHA:134
HP:0012758	Neurodevelopmental delay	487	ATP2A1	OMIM:601003
HP:0012758	Neurodevelopmental delay	23299	BICD2	OMIM:615290
HP:0012758	Neurodevelopmental delay	23299	BICD2	ORPHA:363454
HP:0012758	Neurodevelopmental delay	23299	BICD2	OMIM:618291
HP:0012758	Neurodevelopmental delay	6843	VAMP1	OMIM:618323
HP:0012758	Neurodevelopmental delay	6843	VAMP1	ORPHA:98914
HP:0012758	Neurodevelopmental delay	84168	ANTXR1	OMIM:230740
HP:0012758	Neurodevelopmental delay	5836	PYGL	ORPHA:369
HP:0012758	Neurodevelopmental delay	5081	PAX7	OMIM:618578
HP:0012758	Neurodevelopmental delay	59341	TRPV4	OMIM:181405
HP:0012758	Neurodevelopmental delay	3479	IGF1	ORPHA:73272
HP:0012758	Neurodevelopmental delay	3479	IGF1	OMIM:608747
HP:0012758	Neurodevelopmental delay	1291	COL6A1	OMIM:254090
HP:0012758	Neurodevelopmental delay	1291	COL6A1	OMIM:158810
HP:0012758	Neurodevelopmental delay	4703	NEB	OMIM:256030
HP:0012758	Neurodevelopmental delay	4703	NEB	ORPHA:171433
HP:0012758	Neurodevelopmental delay	4703	NEB	ORPHA:171430
HP:0012758	Neurodevelopmental delay	4703	NEB	ORPHA:171439
HP:0012758	Neurodevelopmental delay	2200	FBN1	ORPHA:284979
HP:0012758	Neurodevelopmental delay	2200	FBN1	OMIM:616914
HP:0012758	Neurodevelopmental delay	10397	NDRG1	OMIM:601455
HP:0012758	Neurodevelopmental delay	10397	NDRG1	ORPHA:99950
HP:0012758	Neurodevelopmental delay	81790	RNF170	OMIM:619686
HP:0012758	Neurodevelopmental delay	55182	RNF220	OMIM:619688
HP:0012758	Neurodevelopmental delay	5980	REV3L	ORPHA:570
HP:0012758	Neurodevelopmental delay	23129	PLXND1	ORPHA:570
HP:0012758	Neurodevelopmental delay	7084	TK2	ORPHA:254875
HP:0012758	Neurodevelopmental delay	51704	GPRC5B	OMIM:620447
HP:0012758	Neurodevelopmental delay	7809	BSND	OMIM:602522
HP:0012758	Neurodevelopmental delay	7809	BSND	ORPHA:89938
HP:0012758	Neurodevelopmental delay	3908	LAMA2	OMIM:618138
HP:0012758	Neurodevelopmental delay	3908	LAMA2	OMIM:607855
HP:0012758	Neurodevelopmental delay	3908	LAMA2	ORPHA:258
HP:0012758	Neurodevelopmental delay	6811	STX5	OMIM:620454
HP:0012758	Neurodevelopmental delay	84265	POLR3GL	OMIM:619234
HP:0012758	Neurodevelopmental delay	10846	PDE10A	ORPHA:494526
HP:0012758	Neurodevelopmental delay	10846	PDE10A	OMIM:616921
HP:0012758	Neurodevelopmental delay	3181	HNRNPA2B1	OMIM:620460
HP:0012758	Neurodevelopmental delay	3636	INPPL1	OMIM:258480
HP:0012758	Neurodevelopmental delay	3557	IL1RN	OMIM:612852
HP:0012758	Neurodevelopmental delay	54187	NANS	OMIM:610442
HP:0012758	Neurodevelopmental delay	1073	CFL2	OMIM:610687
HP:0012758	Neurodevelopmental delay	779	CACNA1S	OMIM:620246
HP:0012758	Neurodevelopmental delay	124093	CCDC78	OMIM:614807
HP:0012758	Neurodevelopmental delay	84842	HPDL	OMIM:619026
HP:0012758	Neurodevelopmental delay	51102	MECR	ORPHA:508093
HP:0012758	Neurodevelopmental delay	27178	IL37	OMIM:619398
HP:0012758	Neurodevelopmental delay	7138	TNNT1	OMIM:620389
HP:0012758	Neurodevelopmental delay	7138	TNNT1	ORPHA:98902
HP:0012758	Neurodevelopmental delay	9640	ZNF592	ORPHA:83472
HP:0012758	Neurodevelopmental delay	7125	TNNC2	OMIM:620161
HP:0012758	Neurodevelopmental delay	55157	DARS2	ORPHA:137898
HP:0012758	Neurodevelopmental delay	55157	DARS2	OMIM:611105
HP:0012758	Neurodevelopmental delay	23345	SYNE1	ORPHA:319332
HP:0012758	Neurodevelopmental delay	23345	SYNE1	ORPHA:88644
HP:0012758	Neurodevelopmental delay	54499	TMCO1	OMIM:213980
HP:0012758	Neurodevelopmental delay	23137	SMC5	OMIM:620185
HP:0012758	Neurodevelopmental delay	1303	COL12A1	ORPHA:536516
HP:0012758	Neurodevelopmental delay	1303	COL12A1	OMIM:616471
HP:0012758	Neurodevelopmental delay	1303	COL12A1	OMIM:616470
HP:0012758	Neurodevelopmental delay	492	ATP2B3	OMIM:302500
HP:0012758	Neurodevelopmental delay	492	ATP2B3	ORPHA:314978
HP:0012758	Neurodevelopmental delay	64419	MTMR14	OMIM:160150
HP:0012758	Neurodevelopmental delay	1785	DNM2	OMIM:160150
HP:0012758	Neurodevelopmental delay	644096	SDHAF1	ORPHA:3208
HP:0012758	Neurodevelopmental delay	1374	CPT1A	OMIM:255120
HP:0012758	Neurodevelopmental delay	91252	SLC39A13	OMIM:612350
HP:0012758	Neurodevelopmental delay	3679	ITGA7	OMIM:613204
HP:0012758	Neurodevelopmental delay	3679	ITGA7	ORPHA:2020
HP:0012758	Neurodevelopmental delay	1305	COL13A1	OMIM:616720
HP:0012758	Neurodevelopmental delay	1305	COL13A1	ORPHA:98914
HP:0012758	Neurodevelopmental delay	55033	FKBP14	OMIM:614557
HP:0012758	Neurodevelopmental delay	55033	FKBP14	ORPHA:300179
HP:0012758	Neurodevelopmental delay	1959	EGR2	OMIM:605253
HP:0012758	Neurodevelopmental delay	1959	EGR2	OMIM:145900
HP:0012758	Neurodevelopmental delay	84693	MCEE	OMIM:251120
HP:0012758	Neurodevelopmental delay	4982	TNFRSF11B	OMIM:239000
HP:0012758	Neurodevelopmental delay	283989	TSEN54	ORPHA:2524
HP:0012758	Neurodevelopmental delay	79042	TSEN34	ORPHA:2524
HP:0012758	Neurodevelopmental delay	80746	TSEN2	ORPHA:2524
HP:0012758	Neurodevelopmental delay	60482	SLC5A7	ORPHA:98914
HP:0012758	Neurodevelopmental delay	60482	SLC5A7	OMIM:617143
HP:0012758	Neurodevelopmental delay	1103	CHAT	ORPHA:98914
HP:0012758	Neurodevelopmental delay	375790	AGRN	ORPHA:98914
HP:0012758	Neurodevelopmental delay	127833	SYT2	ORPHA:98914
HP:0012758	Neurodevelopmental delay	127833	SYT2	OMIM:616040
HP:0012758	Neurodevelopmental delay	6572	SLC18A3	ORPHA:98914
HP:0012758	Neurodevelopmental delay	3033	HADH	ORPHA:71212
HP:0012758	Neurodevelopmental delay	57104	PNPLA2	ORPHA:98908
HP:0012758	Neurodevelopmental delay	84700	MYO18B	OMIM:616549
HP:0012758	Neurodevelopmental delay	8777	MPDZ	OMIM:615219
HP:0012758	Neurodevelopmental delay	8139	GAN	OMIM:256850
HP:0012758	Neurodevelopmental delay	4654	MYOD1	OMIM:618975
HP:0012758	Neurodevelopmental delay	246329	STAC3	OMIM:255995
HP:0012758	Neurodevelopmental delay	246329	STAC3	ORPHA:168572
HP:0012758	Neurodevelopmental delay	29899	GPSM2	OMIM:604213
HP:0012758	Neurodevelopmental delay	55790	CSGALNACT1	OMIM:618870
HP:0012758	Neurodevelopmental delay	2201	FBN2	OMIM:121050
HP:0012758	Neurodevelopmental delay	9200	HACD1	OMIM:619967
HP:0012758	Neurodevelopmental delay	9200	HACD1	ORPHA:2020
HP:0012758	Neurodevelopmental delay	1293	COL6A3	OMIM:620726
HP:0012758	Neurodevelopmental delay	1292	COL6A2	OMIM:620727
HP:0012758	Neurodevelopmental delay	1277	COL1A1	ORPHA:287
HP:0012758	Neurodevelopmental delay	1289	COL5A1	ORPHA:287
HP:0012758	Neurodevelopmental delay	1290	COL5A2	ORPHA:287
HP:0012758	Neurodevelopmental delay	283987	HID1	OMIM:619983
HP:0012758	Neurodevelopmental delay	4632	MYL1	OMIM:618414
HP:0012758	Neurodevelopmental delay	9453	GGPS1	OMIM:619518
HP:0012758	Neurodevelopmental delay	8898	MTMR2	OMIM:601382
HP:0012758	Neurodevelopmental delay	2312	FLG	ORPHA:461
HP:0012758	Neurodevelopmental delay	51098	IFT52	OMIM:617102
HP:0012758	Neurodevelopmental delay	3978	LIG1	OMIM:619774
HP:0012758	Neurodevelopmental delay	10848	PPP1R13L	OMIM:620519
HP:0012758	Neurodevelopmental delay	4052	LTBP1	ORPHA:90349
HP:0012758	Neurodevelopmental delay	30008	EFEMP2	ORPHA:90349
HP:0012758	Neurodevelopmental delay	51062	ATL1	OMIM:182600
HP:0012758	Neurodevelopmental delay	51062	ATL1	ORPHA:100984
HP:0012758	Neurodevelopmental delay	79628	SH3TC2	OMIM:601596
HP:0012758	Neurodevelopmental delay	57505	AARS2	OMIM:614096
HP:0012758	Neurodevelopmental delay	51645	PPIL1	OMIM:619301
HP:0012758	Neurodevelopmental delay	85476	GFM1	OMIM:609060
HP:0012758	Neurodevelopmental delay	79903	NAA60	OMIM:620786
HP:0012758	Neurodevelopmental delay	203547	VMA21	OMIM:310440
HP:0012758	Neurodevelopmental delay	5745	PTH1R	OMIM:600002
HP:0012758	Neurodevelopmental delay	6548	SLC9A1	OMIM:616291
HP:0012758	Neurodevelopmental delay	1363	CPE	OMIM:619326
HP:0012758	Neurodevelopmental delay	55967	NDUFA12	OMIM:618244
HP:0012758	Neurodevelopmental delay	4621	MYH3	OMIM:193700
HP:0012758	Neurodevelopmental delay	9469	CHST3	ORPHA:263463
HP:0012758	Neurodevelopmental delay	9469	CHST3	OMIM:245600
HP:0012758	Neurodevelopmental delay	4128	MAOA	OMIM:300615
HP:0012758	Neurodevelopmental delay	7170	TPM3	OMIM:609284
HP:0012758	Neurodevelopmental delay	7170	TPM3	ORPHA:171433
HP:0012758	Neurodevelopmental delay	7170	TPM3	ORPHA:171881
HP:0012758	Neurodevelopmental delay	7170	TPM3	ORPHA:2020
HP:0012758	Neurodevelopmental delay	7170	TPM3	ORPHA:171439
HP:0012758	Neurodevelopmental delay	7169	TPM2	OMIM:609285
HP:0012758	Neurodevelopmental delay	7169	TPM2	ORPHA:171881
HP:0012758	Neurodevelopmental delay	7169	TPM2	ORPHA:2020
HP:0012758	Neurodevelopmental delay	7169	TPM2	ORPHA:171439
HP:0012758	Neurodevelopmental delay	11080	DNAJB4	OMIM:620326
HP:0012758	Neurodevelopmental delay	1280	COL2A1	ORPHA:94068
HP:0012758	Neurodevelopmental delay	1280	COL2A1	OMIM:156550
HP:0012758	Neurodevelopmental delay	55750	AGK	OMIM:212350
HP:0012758	Neurodevelopmental delay	112812	FDX2	OMIM:251900
HP:0012758	Neurodevelopmental delay	9509	ADAMTS2	OMIM:225410
HP:0012758	Neurodevelopmental delay	2705	GJB1	OMIM:302800
HP:0012758	Neurodevelopmental delay	2705	GJB1	ORPHA:1175
HP:0012758	Neurodevelopmental delay	4534	MTM1	OMIM:310400
HP:0012758	Neurodevelopmental delay	285590	SH3PXD2B	OMIM:249420
HP:0012758	Neurodevelopmental delay	4322	MMP13	OMIM:250400
HP:0012758	Neurodevelopmental delay	745	MYRF	OMIM:618280
HP:0012758	Neurodevelopmental delay	4693	NDP	ORPHA:891
HP:0012758	Neurodevelopmental delay	23554	TSPAN12	ORPHA:891
HP:0012758	Neurodevelopmental delay	79797	ZNF408	ORPHA:891
HP:0012758	Neurodevelopmental delay	8322	FZD4	ORPHA:891
HP:0012758	Neurodevelopmental delay	11014	KDELR2	OMIM:619131
HP:0012758	Neurodevelopmental delay	100	ADA	OMIM:102700
HP:0012758	Neurodevelopmental delay	2733	GLE1	OMIM:611890
HP:0012758	Neurodevelopmental delay	90523	MLIP	OMIM:620138
HP:0012758	Neurodevelopmental delay	2690	GHR	ORPHA:633
HP:0012758	Neurodevelopmental delay	121340	SP7	OMIM:613849
HP:0012758	Neurodevelopmental delay	2617	GARS1	OMIM:619042
HP:0012758	Neurodevelopmental delay	10324	KLHL41	ORPHA:171433
HP:0012758	Neurodevelopmental delay	10324	KLHL41	ORPHA:171430
HP:0012758	Neurodevelopmental delay	10324	KLHL41	OMIM:615731
HP:0012758	Neurodevelopmental delay	10324	KLHL41	ORPHA:171439
HP:0012758	Neurodevelopmental delay	131377	KLHL40	ORPHA:171430
HP:0012758	Neurodevelopmental delay	56203	LMOD3	ORPHA:171430
HP:0012758	Neurodevelopmental delay	5176	SERPINF1	OMIM:613982
HP:0012758	Neurodevelopmental delay	84665	MYPN	ORPHA:171881
HP:0012758	Neurodevelopmental delay	84665	MYPN	ORPHA:171439
HP:0012758	Neurodevelopmental delay	8546	AP3B1	OMIM:608233
HP:0012758	Neurodevelopmental delay	100303755	PET117	OMIM:619063
HP:0012758	Neurodevelopmental delay	4633	MYL2	ORPHA:2020
HP:0012758	Neurodevelopmental delay	51776	MAP3K20	ORPHA:2020
HP:0012758	Neurodevelopmental delay	51776	MAP3K20	OMIM:617760
HP:0012758	Neurodevelopmental delay	657	BMPR1A	ORPHA:79076
HP:0012758	Neurodevelopmental delay	121512	FGD4	OMIM:609311
HP:0012758	Neurodevelopmental delay	2743	GLRB	OMIM:614619
HP:0012758	Neurodevelopmental delay	64837	KLC2	OMIM:609541
HP:0012758	Neurodevelopmental delay	9321	TRIP11	OMIM:184260
HP:0012758	Neurodevelopmental delay	2548	GAA	ORPHA:308552
HP:0012758	Neurodevelopmental delay	5165	PDK3	ORPHA:352675
HP:0012758	Neurodevelopmental delay	390594	KBTBD13	ORPHA:171439
HP:0012758	Neurodevelopmental delay	81846	SBF2	ORPHA:99956
HP:0012758	Neurodevelopmental delay	51067	YARS2	OMIM:613561
HP:0012758	Neurodevelopmental delay	57716	PRX	OMIM:614895
HP:0012758	Neurodevelopmental delay	57716	PRX	OMIM:145900
HP:0012758	Neurodevelopmental delay	23534	TNPO3	OMIM:608423
HP:0012758	Neurodevelopmental delay	8729	GBF1	OMIM:606483
HP:0012758	Neurodevelopmental delay	579	NKX3-2	OMIM:613330
HP:0012758	Neurodevelopmental delay	22845	DOLK	ORPHA:91131
HP:0012758	Neurodevelopmental delay	55187	VPS13D	OMIM:607317
HP:0012758	Neurodevelopmental delay	54974	THG1L	OMIM:618800
HP:0012758	Neurodevelopmental delay	1641	DCX	OMIM:300067
HP:0012758	Neurodevelopmental delay	7421	VDR	OMIM:277440
HP:0012758	Neurodevelopmental delay	23395	LARS2	OMIM:615300
HP:0012758	Neurodevelopmental delay	11280	SCN11A	OMIM:615548
HP:0012758	Neurodevelopmental delay	2584	GALK1	ORPHA:79237
HP:0012758	Neurodevelopmental delay	2588	GALNS	OMIM:253000
HP:0012758	Neurodevelopmental delay	8087	FXR1	OMIM:618822
HP:0012758	Neurodevelopmental delay	8087	FXR1	OMIM:618823
HP:0012758	Neurodevelopmental delay	23209	MLC1	OMIM:604004
HP:0012758	Neurodevelopmental delay	374462	PTPRQ	OMIM:613391
HP:0012758	Neurodevelopmental delay	2990	GUSB	OMIM:253220
HP:0012758	Neurodevelopmental delay	166929	SGMS2	OMIM:126550
HP:0012758	Neurodevelopmental delay	26229	B3GAT3	OMIM:245600
HP:0012758	Neurodevelopmental delay	51569	UFM1	OMIM:617899
HP:0012758	Neurodevelopmental delay	9254	CACNA2D2	OMIM:618501
HP:0012758	Neurodevelopmental delay	7360	UGP2	OMIM:618744
HP:0012758	Neurodevelopmental delay	170825	GSX2	OMIM:618646
HP:0012758	Neurodevelopmental delay	2253	FGF8	ORPHA:93926
HP:0012758	Neurodevelopmental delay	2253	FGF8	ORPHA:93924
HP:0012758	Neurodevelopmental delay	2253	FGF8	ORPHA:93925
HP:0012758	Neurodevelopmental delay	2253	FGF8	ORPHA:220386
HP:0012758	Neurodevelopmental delay	7050	TGIF1	ORPHA:93926
HP:0012758	Neurodevelopmental delay	7050	TGIF1	ORPHA:93924
HP:0012758	Neurodevelopmental delay	7050	TGIF1	ORPHA:93925
HP:0012758	Neurodevelopmental delay	7050	TGIF1	ORPHA:220386
HP:0012758	Neurodevelopmental delay	4838	NODAL	ORPHA:93926
HP:0012758	Neurodevelopmental delay	4838	NODAL	ORPHA:93924
HP:0012758	Neurodevelopmental delay	4838	NODAL	ORPHA:93925
HP:0012758	Neurodevelopmental delay	4838	NODAL	ORPHA:220386
HP:0012758	Neurodevelopmental delay	2619	GAS1	ORPHA:93926
HP:0012758	Neurodevelopmental delay	2619	GAS1	ORPHA:93924
HP:0012758	Neurodevelopmental delay	2619	GAS1	ORPHA:93925
HP:0012758	Neurodevelopmental delay	2619	GAS1	ORPHA:220386
HP:0012758	Neurodevelopmental delay	84976	DISP1	ORPHA:93926
HP:0012758	Neurodevelopmental delay	84976	DISP1	ORPHA:93924
HP:0012758	Neurodevelopmental delay	84976	DISP1	ORPHA:93925
HP:0012758	Neurodevelopmental delay	84976	DISP1	ORPHA:220386
HP:0012758	Neurodevelopmental delay	8928	FOXH1	ORPHA:93926
HP:0012758	Neurodevelopmental delay	8928	FOXH1	ORPHA:93924
HP:0012758	Neurodevelopmental delay	8928	FOXH1	ORPHA:93925
HP:0012758	Neurodevelopmental delay	8928	FOXH1	ORPHA:220386
HP:0012758	Neurodevelopmental delay	6997	CRIPTO	ORPHA:93926
HP:0012758	Neurodevelopmental delay	6997	CRIPTO	ORPHA:93924
HP:0012758	Neurodevelopmental delay	6997	CRIPTO	ORPHA:93925
HP:0012758	Neurodevelopmental delay	6997	CRIPTO	ORPHA:220386
HP:0012758	Neurodevelopmental delay	122961	ISCA2	OMIM:616370
HP:0012758	Neurodevelopmental delay	2258	FGF13	OMIM:301095
HP:0012758	Neurodevelopmental delay	51693	TRAPPC2L	OMIM:618331
HP:0012758	Neurodevelopmental delay	9526	MPDU1	OMIM:609180
HP:0012758	Neurodevelopmental delay	6647	SOD1	OMIM:618598
HP:0012758	Neurodevelopmental delay	154881	KCTD7	OMIM:611726
HP:0012758	Neurodevelopmental delay	7965	AIMP2	OMIM:618006
HP:0012758	Neurodevelopmental delay	389856	USP27X	OMIM:300984
HP:0012758	Neurodevelopmental delay	57003	CCDC47	OMIM:618268
HP:0012758	Neurodevelopmental delay	57038	RARS2	OMIM:611523
HP:0012758	Neurodevelopmental delay	8911	CACNA1I	OMIM:620114
HP:0012758	Neurodevelopmental delay	10479	SLC9A6	ORPHA:85278
HP:0012758	Neurodevelopmental delay	10479	SLC9A6	OMIM:300243
HP:0012758	Neurodevelopmental delay	777	CACNA1E	OMIM:618285
HP:0012758	Neurodevelopmental delay	25913	POT1	OMIM:620368
HP:0012758	Neurodevelopmental delay	87178	PNPT1	OMIM:614932
HP:0012758	Neurodevelopmental delay	87178	PNPT1	ORPHA:319514
HP:0012758	Neurodevelopmental delay	1119	CHKA	OMIM:620023
HP:0012758	Neurodevelopmental delay	56992	KIF15	ORPHA:261323
HP:0012758	Neurodevelopmental delay	5700	PSMC1	OMIM:620071
HP:0012758	Neurodevelopmental delay	50628	GEMIN4	OMIM:617913
HP:0012758	Neurodevelopmental delay	51807	TUBA8	ORPHA:250972
HP:0012758	Neurodevelopmental delay	7280	TUBB2A	OMIM:615763
HP:0012758	Neurodevelopmental delay	6664	SOX11	ORPHA:1465
HP:0012758	Neurodevelopmental delay	55969	RAB5IF	OMIM:616994
HP:0012758	Neurodevelopmental delay	9918	NCAPD2	OMIM:617983
HP:0012758	Neurodevelopmental delay	55704	CCDC88A	OMIM:617507
HP:0012758	Neurodevelopmental delay	9197	SLC33A1	OMIM:614482
HP:0012758	Neurodevelopmental delay	57194	ATP10A	ORPHA:411515
HP:0012758	Neurodevelopmental delay	4625	MYH7	ORPHA:324604
HP:0012758	Neurodevelopmental delay	23769	FLRT1	ORPHA:320406
HP:0012758	Neurodevelopmental delay	5351	PLOD1	OMIM:225400
HP:0012758	Neurodevelopmental delay	5351	PLOD1	ORPHA:1900
HP:0012758	Neurodevelopmental delay	55605	KIF21A	ORPHA:45358
HP:0012758	Neurodevelopmental delay	401	PHOX2A	ORPHA:45358
HP:0012758	Neurodevelopmental delay	84570	COL25A1	ORPHA:45358
HP:0012758	Neurodevelopmental delay	4618	MYF6	ORPHA:169189
HP:0012758	Neurodevelopmental delay	5251	PHEX	OMIM:307800
HP:0012758	Neurodevelopmental delay	28982	FLVCR1	ORPHA:88628
HP:0012758	Neurodevelopmental delay	29940	DSE	ORPHA:2953
HP:0012758	Neurodevelopmental delay	29940	DSE	OMIM:615539
HP:0012758	Neurodevelopmental delay	4556	MT-TE	ORPHA:254864
HP:0012758	Neurodevelopmental delay	55687	TRMU	ORPHA:254864
HP:0012758	Neurodevelopmental delay	649	BMP1	OMIM:614856
HP:0012758	Neurodevelopmental delay	1186	CLCN7	OMIM:618541
HP:0012758	Neurodevelopmental delay	3035	HARS1	OMIM:614504
HP:0012758	Neurodevelopmental delay	2248	FGF3	OMIM:610706
HP:0012758	Neurodevelopmental delay	8720	MBTPS1	OMIM:618392
HP:0012758	Neurodevelopmental delay	3198	HOXA1	OMIM:601536
HP:0012758	Neurodevelopmental delay	4038	LRP4	ORPHA:98913
HP:0012758	Neurodevelopmental delay	4038	LRP4	OMIM:212780
HP:0012758	Neurodevelopmental delay	1140	CHRNB1	ORPHA:98913
HP:0012758	Neurodevelopmental delay	4593	MUSK	ORPHA:98913
HP:0012758	Neurodevelopmental delay	5913	RAPSN	ORPHA:98913
HP:0012758	Neurodevelopmental delay	221264	AK9	ORPHA:98913
HP:0012758	Neurodevelopmental delay	285489	DOK7	ORPHA:98913
HP:0012758	Neurodevelopmental delay	5479	PPIB	OMIM:259440
HP:0012758	Neurodevelopmental delay	9927	MFN2	OMIM:617087
HP:0012758	Neurodevelopmental delay	7043	TGFB3	OMIM:615582
HP:0012758	Neurodevelopmental delay	3516	RBPJ	OMIM:614814
HP:0012758	Neurodevelopmental delay	8565	YARS1	OMIM:619418
HP:0012758	Neurodevelopmental delay	6472	SHMT2	OMIM:619121
HP:0012758	Neurodevelopmental delay	5077	PAX3	OMIM:148820
HP:0012758	Neurodevelopmental delay	7314	UBB	ORPHA:99772
HP:0012758	Neurodevelopmental delay	57822	GRHL3	ORPHA:99772
HP:0012758	Neurodevelopmental delay	6909	TBX2	OMIM:618223
HP:0012758	Neurodevelopmental delay	6495	SIX1	OMIM:113650
HP:0012758	Neurodevelopmental delay	29927	SEC61A1	OMIM:617056
HP:0012758	Neurodevelopmental delay	6938	TCF12	OMIM:615314
HP:0012758	Neurodevelopmental delay	10992	SF3B2	OMIM:164210
HP:0012758	Neurodevelopmental delay	4173	MCM4	OMIM:609981
HP:0012758	Neurodevelopmental delay	51163	DBR1	OMIM:619441
HP:0012758	Neurodevelopmental delay	275	AMT	OMIM:620398
HP:0012758	Neurodevelopmental delay	338657	CENATAC	OMIM:620153
HP:0012758	Neurodevelopmental delay	545	ATR	ORPHA:808
HP:0012758	Neurodevelopmental delay	79902	NUP85	ORPHA:808
HP:0012758	Neurodevelopmental delay	84126	ATRIP	ORPHA:808
HP:0012758	Neurodevelopmental delay	256297	PTF1A	OMIM:615935
HP:0012758	Neurodevelopmental delay	4566	MT-TK	ORPHA:1349
HP:0012758	Neurodevelopmental delay	20	ABCA2	OMIM:618808
HP:0012758	Neurodevelopmental delay	506	ATP5F1B	OMIM:620085
HP:0012758	Neurodevelopmental delay	1513	CTSK	ORPHA:763
HP:0012758	Neurodevelopmental delay	56160	NSMCE3	OMIM:617241
HP:0012758	Neurodevelopmental delay	7156	TOP3A	OMIM:618097
HP:0012758	Neurodevelopmental delay	5573	PRKAR1A	OMIM:101800
HP:0012758	Neurodevelopmental delay	5702	PSMC3	OMIM:619354
HP:0012758	Neurodevelopmental delay	3034	HAL	ORPHA:2157
HP:0012758	Neurodevelopmental delay	54790	TET2	OMIM:619126
HP:0012758	Neurodevelopmental delay	26227	PHGDH	ORPHA:79351
HP:0012758	Neurodevelopmental delay	4577	MT-TV	ORPHA:255210
HP:0012758	Neurodevelopmental delay	51112	TRAPPC12	ORPHA:500144
HP:0012758	Neurodevelopmental delay	51112	TRAPPC12	OMIM:617669
HP:0012758	Neurodevelopmental delay	6487	ST3GAL3	OMIM:615006
HP:0012758	Neurodevelopmental delay	56246	MRAP	OMIM:607398
HP:0012758	Neurodevelopmental delay	1501	CTNND2	ORPHA:281
HP:0012758	Neurodevelopmental delay	9037	SEMA5A	ORPHA:281
HP:0012758	Neurodevelopmental delay	497661	C18orf32	OMIM:619985
HP:0012758	Neurodevelopmental delay	8550	MAPKAPK5	OMIM:619869
HP:0012758	Neurodevelopmental delay	2752	GLUL	OMIM:610015
HP:0012758	Neurodevelopmental delay	149371	EXOC8	OMIM:619076
HP:0012758	Neurodevelopmental delay	9681	DEPDC5	OMIM:620504
HP:0012758	Neurodevelopmental delay	79753	SNIP1	OMIM:614501
HP:0012758	Neurodevelopmental delay	3170	FOXA2	ORPHA:95494
HP:0012758	Neurodevelopmental delay	10436	EMG1	ORPHA:1270
HP:0012758	Neurodevelopmental delay	7358	UGDH	OMIM:618792
HP:0012758	Neurodevelopmental delay	8218	CLTCL1	ORPHA:453510
HP:0012758	Neurodevelopmental delay	10243	GPHN	OMIM:615501
HP:0012758	Neurodevelopmental delay	55770	EXOC2	OMIM:619306
HP:0012758	Neurodevelopmental delay	128869	PIGU	OMIM:618590
HP:0012758	Neurodevelopmental delay	22854	NTNG1	ORPHA:3095
HP:0012758	Neurodevelopmental delay	55610	VPS50	OMIM:619685
HP:0012758	Neurodevelopmental delay	8882	ZPR1	OMIM:619321
HP:0012758	Neurodevelopmental delay	50	ACO2	OMIM:614559
HP:0012758	Neurodevelopmental delay	79068	FTO	OMIM:612938
HP:0012758	Neurodevelopmental delay	5934	RBL2	OMIM:619690
HP:0012758	Neurodevelopmental delay	63925	ZNF335	OMIM:615095
HP:0012758	Neurodevelopmental delay	2530	FUT8	OMIM:618005
HP:0012758	Neurodevelopmental delay	6045	RNF2	OMIM:619460
HP:0012758	Neurodevelopmental delay	60386	SLC25A19	ORPHA:99742
HP:0012758	Neurodevelopmental delay	8943	AP3D1	OMIM:617050
HP:0012758	Neurodevelopmental delay	4576	MT-TT	ORPHA:254857
HP:0012758	Neurodevelopmental delay	5167	ENPP1	ORPHA:51608
HP:0012758	Neurodevelopmental delay	368	ABCC6	ORPHA:51608
HP:0012758	Neurodevelopmental delay	5331	PLCB3	OMIM:618961
HP:0012758	Neurodevelopmental delay	738	VPS51	OMIM:618606
HP:0012758	Neurodevelopmental delay	5557	PRIM1	OMIM:620005
HP:0012758	Neurodevelopmental delay	23102	TBC1D2B	ORPHA:397973
HP:0012758	Neurodevelopmental delay	221692	PHACTR1	OMIM:618298
HP:0012758	Neurodevelopmental delay	51362	CDC40	OMIM:619302
HP:0012758	Neurodevelopmental delay	1496	CTNNA2	OMIM:618174
HP:0012758	Neurodevelopmental delay	91949	COG7	OMIM:608779
HP:0012758	Neurodevelopmental delay	116115	ZNF526	OMIM:619877
HP:0012758	Neurodevelopmental delay	8364	H4C3	OMIM:619758
HP:0012758	Neurodevelopmental delay	64220	STRA6	OMIM:601186
HP:0012758	Neurodevelopmental delay	2222	FDFT1	OMIM:618156
HP:0012758	Neurodevelopmental delay	60558	GUF1	OMIM:617065
HP:0012758	Neurodevelopmental delay	64801	ARV1	OMIM:617020
HP:0012758	Neurodevelopmental delay	5859	QARS1	OMIM:615760
HP:0012758	Neurodevelopmental delay	9570	GOSR2	OMIM:620166
HP:0012758	Neurodevelopmental delay	25930	PTPN23	OMIM:618890
HP:0012758	Neurodevelopmental delay	667	DST	OMIM:614653
HP:0012758	Neurodevelopmental delay	9419	CRIPT	OMIM:615789
HP:0012758	Neurodevelopmental delay	435	ASL	ORPHA:23
HP:0012758	Neurodevelopmental delay	11198	SUPT16H	ORPHA:261229
HP:0012758	Neurodevelopmental delay	57680	CHD8	ORPHA:261229
HP:0012758	Neurodevelopmental delay	875	CBS	ORPHA:394
HP:0012758	Neurodevelopmental delay	58499	ZNF462	ORPHA:502430
HP:0012758	Neurodevelopmental delay	5076	PAX2	ORPHA:97362
HP:0012758	Neurodevelopmental delay	5087	PBX1	ORPHA:97362
HP:0012758	Neurodevelopmental delay	23592	LEMD3	ORPHA:166119
HP:0012758	Neurodevelopmental delay	1161	ERCC8	ORPHA:90324
HP:0012758	Neurodevelopmental delay	1161	ERCC8	ORPHA:90322
HP:0012758	Neurodevelopmental delay	2074	ERCC6	ORPHA:90324
HP:0012758	Neurodevelopmental delay	2074	ERCC6	ORPHA:90322
HP:0012758	Neurodevelopmental delay	6326	SCN2A	ORPHA:293181
HP:0012758	Neurodevelopmental delay	57468	SLC12A5	ORPHA:293181
HP:0012758	Neurodevelopmental delay	23236	PLCB1	ORPHA:293181
HP:0012758	Neurodevelopmental delay	3785	KCNQ2	ORPHA:293181
HP:0012758	Neurodevelopmental delay	57582	KCNT1	ORPHA:293181
HP:0012758	Neurodevelopmental delay	5277	PIGA	ORPHA:293181
HP:0012758	Neurodevelopmental delay	6323	SCN1A	ORPHA:293181
HP:0012758	Neurodevelopmental delay	6323	SCN1A	ORPHA:2382
HP:0012758	Neurodevelopmental delay	79751	SLC25A22	ORPHA:293181
HP:0012758	Neurodevelopmental delay	57465	TBC1D24	ORPHA:293181
HP:0012758	Neurodevelopmental delay	2067	ERCC1	ORPHA:90322
HP:0012758	Neurodevelopmental delay	114803	MYSM1	ORPHA:508542
HP:0012758	Neurodevelopmental delay	84548	TMEM185A	ORPHA:100974
HP:0012758	Neurodevelopmental delay	56997	COQ8A	ORPHA:139485
HP:0012758	Neurodevelopmental delay	10157	AASS	ORPHA:2203
HP:0012758	Neurodevelopmental delay	10157	AASS	ORPHA:3124
HP:0012758	Neurodevelopmental delay	6492	SIM1	ORPHA:398079
HP:0012758	Neurodevelopmental delay	8085	KMT2D	ORPHA:2322
HP:0012758	Neurodevelopmental delay	7403	KDM6A	ORPHA:2322
HP:0012758	Neurodevelopmental delay	2033	EP300	ORPHA:353284
HP:0012758	Neurodevelopmental delay	3767	KCNJ11	ORPHA:99885
HP:0012758	Neurodevelopmental delay	3767	KCNJ11	ORPHA:99886
HP:0012758	Neurodevelopmental delay	3767	KCNJ11	ORPHA:79644
HP:0012758	Neurodevelopmental delay	6774	STAT3	ORPHA:99885
HP:0012758	Neurodevelopmental delay	2645	GCK	ORPHA:99885
HP:0012758	Neurodevelopmental delay	3651	PDX1	ORPHA:99885
HP:0012758	Neurodevelopmental delay	6833	ABCC8	ORPHA:99885
HP:0012758	Neurodevelopmental delay	6833	ABCC8	ORPHA:99886
HP:0012758	Neurodevelopmental delay	3630	INS	ORPHA:99885
HP:0012758	Neurodevelopmental delay	346171	ZFP57	ORPHA:99886
HP:0012758	Neurodevelopmental delay	57061	HYMAI	ORPHA:99886
HP:0012758	Neurodevelopmental delay	5325	PLAGL1	ORPHA:99886
HP:0012758	Neurodevelopmental delay	10166	SLC25A15	ORPHA:415
HP:0012758	Neurodevelopmental delay	23499	MACF1	ORPHA:572013
HP:0012758	Neurodevelopmental delay	387119	CEP85L	ORPHA:572013
HP:0012758	Neurodevelopmental delay	7252	TSHB	ORPHA:90674
HP:0012758	Neurodevelopmental delay	23474	ETHE1	ORPHA:51188
HP:0012758	Neurodevelopmental delay	7337	UBE3A	ORPHA:98794
HP:0012758	Neurodevelopmental delay	4948	OCA2	ORPHA:98794
HP:0012758	Neurodevelopmental delay	1738	DLD	ORPHA:2394
HP:0012758	Neurodevelopmental delay	3074	HEXB	ORPHA:309155
HP:0012758	Neurodevelopmental delay	4509	MT-ATP8	ORPHA:254913
HP:0012758	Neurodevelopmental delay	514	ATP5F1E	ORPHA:254913
HP:0012758	Neurodevelopmental delay	513	ATP5F1D	ORPHA:254913
HP:0012758	Neurodevelopmental delay	498	ATP5F1A	ORPHA:254913
HP:0012758	Neurodevelopmental delay	4508	MT-ATP6	ORPHA:254913
HP:0012758	Neurodevelopmental delay	4508	MT-ATP6	ORPHA:225154
HP:0012758	Neurodevelopmental delay	84833	ATP5MK	ORPHA:254913
HP:0012758	Neurodevelopmental delay	91647	ATPAF2	ORPHA:254913
HP:0012758	Neurodevelopmental delay	405753	DUOXA2	ORPHA:95716
HP:0012758	Neurodevelopmental delay	6528	SLC5A5	ORPHA:95716
HP:0012758	Neurodevelopmental delay	7038	TG	ORPHA:95716
HP:0012758	Neurodevelopmental delay	7173	TPO	ORPHA:95716
HP:0012758	Neurodevelopmental delay	389434	IYD	ORPHA:95716
HP:0012758	Neurodevelopmental delay	50506	DUOX2	ORPHA:95716
HP:0012758	Neurodevelopmental delay	54551	MAGEL2	ORPHA:398069
HP:0012758	Neurodevelopmental delay	3572	IL6ST	OMIM:618523
HP:0012758	Neurodevelopmental delay	4091	SMAD6	OMIM:617439
HP:0012758	Neurodevelopmental delay	501	ALDH7A1	ORPHA:3006
HP:0012758	Neurodevelopmental delay	11212	PLPBP	ORPHA:3006
HP:0012758	Neurodevelopmental delay	259232	NALCN	ORPHA:562528
HP:0012758	Neurodevelopmental delay	171023	ASXL1	ORPHA:97297
HP:0012758	Neurodevelopmental delay	4763	NF1	ORPHA:363700
HP:0012758	Neurodevelopmental delay	1759	DNM1	ORPHA:2382
HP:0012758	Neurodevelopmental delay	2562	GABRB3	ORPHA:2382
HP:0012758	Neurodevelopmental delay	5602	MAPK10	ORPHA:2382
HP:0012758	Neurodevelopmental delay	773	CACNA1A	ORPHA:2382
HP:0012758	Neurodevelopmental delay	773	CACNA1A	ORPHA:2131
HP:0012758	Neurodevelopmental delay	23316	CUX2	ORPHA:2382
HP:0012758	Neurodevelopmental delay	1106	CHD2	ORPHA:2382
HP:0012758	Neurodevelopmental delay	26040	SETBP1	ORPHA:798
HP:0012758	Neurodevelopmental delay	5092	PCBD1	ORPHA:1578
HP:0012758	Neurodevelopmental delay	3981	LIG4	ORPHA:235
HP:0012758	Neurodevelopmental delay	54888	NSUN2	ORPHA:235
HP:0012758	Neurodevelopmental delay	10804	GJB6	ORPHA:477
HP:0012758	Neurodevelopmental delay	2706	GJB2	ORPHA:477
HP:0012758	Neurodevelopmental delay	1798	DPAGT1	ORPHA:86309
HP:0012758	Neurodevelopmental delay	92482	BBIP1	ORPHA:110
HP:0012758	Neurodevelopmental delay	80184	CEP290	ORPHA:110
HP:0012758	Neurodevelopmental delay	11020	IFT27	ORPHA:110
HP:0012758	Neurodevelopmental delay	582	BBS1	ORPHA:110
HP:0012758	Neurodevelopmental delay	49855	SCAPER	ORPHA:110
HP:0012758	Neurodevelopmental delay	4867	NPHP1	ORPHA:110
HP:0012758	Neurodevelopmental delay	51057	WDPCP	ORPHA:110
HP:0012758	Neurodevelopmental delay	132320	SCLT1	ORPHA:110
HP:0012758	Neurodevelopmental delay	27241	BBS9	ORPHA:110
HP:0012758	Neurodevelopmental delay	84984	CEP19	ORPHA:110
HP:0012758	Neurodevelopmental delay	22954	TRIM32	ORPHA:110
HP:0012758	Neurodevelopmental delay	54903	MKS1	ORPHA:110
HP:0012758	Neurodevelopmental delay	79738	BBS10	ORPHA:110
HP:0012758	Neurodevelopmental delay	123016	TTC8	ORPHA:110
HP:0012758	Neurodevelopmental delay	26160	IFT172	ORPHA:110
HP:0012758	Neurodevelopmental delay	583	BBS2	ORPHA:110
HP:0012758	Neurodevelopmental delay	585	BBS4	ORPHA:110
HP:0012758	Neurodevelopmental delay	8195	MKKS	ORPHA:110
HP:0012758	Neurodevelopmental delay	54585	LZTFL1	ORPHA:110
HP:0012758	Neurodevelopmental delay	55212	BBS7	ORPHA:110
HP:0012758	Neurodevelopmental delay	166379	BBS12	ORPHA:110
HP:0012758	Neurodevelopmental delay	10806	SDCCAG8	ORPHA:110
HP:0012758	Neurodevelopmental delay	157657	CFAP418	ORPHA:110
HP:0012758	Neurodevelopmental delay	84100	ARL6	ORPHA:110
HP:0012758	Neurodevelopmental delay	129880	BBS5	ORPHA:110
HP:0012758	Neurodevelopmental delay	80173	IFT74	ORPHA:110
HP:0012758	Neurodevelopmental delay	9757	KMT2B	ORPHA:589618
HP:0012758	Neurodevelopmental delay	10841	FTCD	ORPHA:51208
HP:0012758	Neurodevelopmental delay	10664	CTCF	ORPHA:363611
HP:0012758	Neurodevelopmental delay	54914	FOCAD	OMIM:619991
HP:0012758	Neurodevelopmental delay	5626	PROP1	ORPHA:226307
HP:0012758	Neurodevelopmental delay	89884	LHX4	ORPHA:226307
HP:0012758	Neurodevelopmental delay	8022	LHX3	ORPHA:226307
HP:0012758	Neurodevelopmental delay	5449	POU1F1	ORPHA:226307
HP:0012758	Neurodevelopmental delay	8820	HESX1	ORPHA:226307
HP:0012758	Neurodevelopmental delay	1593	CYP27A1	ORPHA:909
HP:0012758	Neurodevelopmental delay	5295	PIK3R1	OMIM:616005
HP:0012758	Neurodevelopmental delay	5295	PIK3R1	ORPHA:397596
HP:0012758	Neurodevelopmental delay	131405	TRIM71	OMIM:618667
HP:0012758	Neurodevelopmental delay	6507	SLC1A3	ORPHA:2131
HP:0012758	Neurodevelopmental delay	477	ATP1A2	ORPHA:2131
HP:0012758	Neurodevelopmental delay	478	ATP1A3	ORPHA:2131
HP:0012758	Neurodevelopmental delay	6660	SOX5	ORPHA:626
HP:0012758	Neurodevelopmental delay	238	ALK	ORPHA:626
HP:0012758	Neurodevelopmental delay	9839	ZEB2	ORPHA:626
HP:0012758	Neurodevelopmental delay	4893	NRAS	ORPHA:626
HP:0012758	Neurodevelopmental delay	4893	NRAS	ORPHA:648
HP:0012758	Neurodevelopmental delay	673	BRAF	ORPHA:626
HP:0012758	Neurodevelopmental delay	5894	RAF1	ORPHA:626
HP:0012758	Neurodevelopmental delay	5894	RAF1	ORPHA:648
HP:0012758	Neurodevelopmental delay	93986	FOXP2	ORPHA:251061
HP:0012758	Neurodevelopmental delay	5354	PLP1	ORPHA:280234
HP:0012758	Neurodevelopmental delay	5162	PDHB	ORPHA:255138
HP:0012758	Neurodevelopmental delay	8733	GPAA1	ORPHA:529665
HP:0012758	Neurodevelopmental delay	5728	PTEN	ORPHA:397596
HP:0012758	Neurodevelopmental delay	5293	PIK3CD	ORPHA:397596
HP:0012758	Neurodevelopmental delay	407975	MIR17HG	ORPHA:391646
HP:0012758	Neurodevelopmental delay	3708	ITPR1	OMIM:606658
HP:0012758	Neurodevelopmental delay	1650	DDOST	ORPHA:300536
HP:0012758	Neurodevelopmental delay	23636	NUP62	ORPHA:225154
HP:0012758	Neurodevelopmental delay	53371	NUP54	ORPHA:225154
HP:0012758	Neurodevelopmental delay	103	ADAR	ORPHA:225154
HP:0012758	Neurodevelopmental delay	9652	SKIC3	OMIM:222470
HP:0012758	Neurodevelopmental delay	1387	CREBBP	ORPHA:353277
HP:0012758	Neurodevelopmental delay	131118	DNAJC19	ORPHA:66634
HP:0012758	Neurodevelopmental delay	25974	MMACHC	ORPHA:79282
HP:0012758	Neurodevelopmental delay	3458	IFNG	ORPHA:805
HP:0012758	Neurodevelopmental delay	7248	TSC1	ORPHA:805
HP:0012758	Neurodevelopmental delay	7249	TSC2	ORPHA:805
HP:0012758	Neurodevelopmental delay	55788	LMBRD1	ORPHA:79284
HP:0012758	Neurodevelopmental delay	22800	RRAS2	ORPHA:648
HP:0012758	Neurodevelopmental delay	867	CBL	ORPHA:648
HP:0012758	Neurodevelopmental delay	8216	LZTR1	ORPHA:648
HP:0012758	Neurodevelopmental delay	6016	RIT1	ORPHA:648
HP:0012758	Neurodevelopmental delay	6237	RRAS	ORPHA:648
HP:0012758	Neurodevelopmental delay	22808	MRAS	ORPHA:648
HP:0012758	Neurodevelopmental delay	3845	KRAS	ORPHA:648
HP:0012758	Neurodevelopmental delay	200734	SPRED2	ORPHA:648
HP:0012758	Neurodevelopmental delay	6654	SOS1	ORPHA:648
HP:0012758	Neurodevelopmental delay	6655	SOS2	ORPHA:648
HP:0012758	Neurodevelopmental delay	5781	PTPN11	ORPHA:648
HP:0012758	Neurodevelopmental delay	5922	RASA2	ORPHA:648
HP:0012758	Neurodevelopmental delay	4733	DRG1	OMIM:620641
HP:0012758	Neurodevelopmental delay	29929	ALG6	ORPHA:79320
HP:0012758	Neurodevelopmental delay	5048	PAFAH1B1	ORPHA:95232
HP:0012758	Neurodevelopmental delay	8813	DPM1	ORPHA:79322
HP:0012758	Neurodevelopmental delay	3265	HRAS	ORPHA:2874
HP:0012758	Neurodevelopmental delay	7201	TRHR	ORPHA:99832
HP:0012758	Neurodevelopmental delay	5286	PIK3C2A	ORPHA:557003
HP:0012758	Neurodevelopmental delay	2776	GNAQ	ORPHA:3205
HP:0012758	Neurodevelopmental delay	6138	RPL15	ORPHA:124
HP:0012758	Neurodevelopmental delay	6224	RPS20	ORPHA:124
HP:0012758	Neurodevelopmental delay	6165	RPL35A	ORPHA:124
HP:0012758	Neurodevelopmental delay	6132	RPL8	ORPHA:124
HP:0012758	Neurodevelopmental delay	6223	RPS19	ORPHA:124
HP:0012758	Neurodevelopmental delay	6232	RPS27	ORPHA:124
HP:0012758	Neurodevelopmental delay	55027	HEATR3	ORPHA:124
HP:0012758	Neurodevelopmental delay	6160	RPL31	ORPHA:124
HP:0012758	Neurodevelopmental delay	6201	RPS7	ORPHA:124
HP:0012758	Neurodevelopmental delay	6155	RPL27	ORPHA:124
HP:0012758	Neurodevelopmental delay	6234	RPS28	ORPHA:124
HP:0012758	Neurodevelopmental delay	6135	RPL11	ORPHA:124
HP:0012758	Neurodevelopmental delay	6229	RPS24	ORPHA:124
HP:0012758	Neurodevelopmental delay	6125	RPL5	ORPHA:124
HP:0012758	Neurodevelopmental delay	6204	RPS10	ORPHA:124
HP:0012758	Neurodevelopmental delay	2623	GATA1	ORPHA:124
HP:0012758	Neurodevelopmental delay	6133	RPL9	ORPHA:124
HP:0012758	Neurodevelopmental delay	6231	RPS26	ORPHA:124
HP:0012758	Neurodevelopmental delay	11224	RPL35	ORPHA:124
HP:0012758	Neurodevelopmental delay	6218	RPS17	ORPHA:124
HP:0012758	Neurodevelopmental delay	6154	RPL26	ORPHA:124
HP:0012758	Neurodevelopmental delay	6210	RPS15A	ORPHA:124
HP:0012758	Neurodevelopmental delay	90121	TSR2	ORPHA:124
HP:0012758	Neurodevelopmental delay	6141	RPL18	ORPHA:124
HP:0012758	Neurodevelopmental delay	6235	RPS29	ORPHA:124
HP:0012758	Neurodevelopmental delay	51816	ADA2	ORPHA:124
HP:0012758	Neurodevelopmental delay	55023	PHIP	ORPHA:589905
HP:0012758	Neurodevelopmental delay	35	ACADS	ORPHA:26792
HP:0012758	Neurodevelopmental delay	7068	THRB	ORPHA:566243
HP:0012758	Neurodevelopmental delay	4281	MID1	ORPHA:2745
HP:0012758	Neurodevelopmental delay	196528	ARID2	OMIM:617808
HP:0012758	Neurodevelopmental delay	3762	KCNJ5	ORPHA:37553
HP:0012758	Neurodevelopmental delay	3759	KCNJ2	ORPHA:37553
HP:0012758	Neurodevelopmental delay	5430	POLR2A	OMIM:618603
HP:0012758	Neurodevelopmental delay	23321	TRIM2	OMIM:615490
HP:0012758	Neurodevelopmental delay	88	ACTN2	OMIM:618654
HP:0012758	Neurodevelopmental delay	1576	CYP3A4	OMIM:619073
HP:0012758	Neurodevelopmental delay	57863	CADM3	OMIM:619519
HP:0012758	Neurodevelopmental delay	9725	TMEM63A	OMIM:618688
HP:0012758	Neurodevelopmental delay	79879	CCDC134	OMIM:619795
HP:0012758	Neurodevelopmental delay	8890	EIF2B4	OMIM:620314
HP:0012758	Neurodevelopmental delay	10342	TFG	OMIM:615658
HP:0012758	Neurodevelopmental delay	54463	RETREG1	OMIM:613115
HP:0012758	Neurodevelopmental delay	23233	EXOC6B	OMIM:618395
HP:0012758	Neurodevelopmental delay	1460	CSNK2B	OMIM:618732
HP:0012758	Neurodevelopmental delay	57128	LYRM4	OMIM:615595
HP:0012758	Neurodevelopmental delay	1317	SLC31A1	OMIM:620306
HP:0012758	Neurodevelopmental delay	6050	RNH1	OMIM:620461
HP:0012758	Neurodevelopmental delay	7317	UBA1	OMIM:301830
HP:0012758	Neurodevelopmental delay	1352	COX10	OMIM:619046
HP:0012758	Neurodevelopmental delay	871	SERPINH1	OMIM:613848
HP:0012759	Neurodevelopmental abnormality	23135	KDM6B	OMIM:618505
HP:0012759	Neurodevelopmental abnormality	1739	DLG1	ORPHA:199306
HP:0012759	Neurodevelopmental abnormality	999	CDH1	ORPHA:199306
HP:0012759	Neurodevelopmental abnormality	5156	PDGFRA	ORPHA:199306
HP:0012759	Neurodevelopmental abnormality	1748	DLX4	ORPHA:199306
HP:0012759	Neurodevelopmental abnormality	652	BMP4	ORPHA:199306
HP:0012759	Neurodevelopmental abnormality	22837	COBLL1	ORPHA:199306
HP:0012759	Neurodevelopmental abnormality	54848	ARHGEF38	ORPHA:199306
HP:0012759	Neurodevelopmental abnormality	9411	ARHGAP29	ORPHA:199306
HP:0012759	Neurodevelopmental abnormality	55904	KMT2E	OMIM:618512
HP:0012759	Neurodevelopmental abnormality	55621	TRMT1	OMIM:618302
HP:0012759	Neurodevelopmental abnormality	2620	GAS2	OMIM:620877
HP:0012759	Neurodevelopmental abnormality	5981	RFC1	ORPHA:504476
HP:0012759	Neurodevelopmental abnormality	7143	TNR	OMIM:619653
HP:0012759	Neurodevelopmental abnormality	10533	ATG7	OMIM:619422
HP:0012759	Neurodevelopmental abnormality	120	ADD3	OMIM:617008
HP:0012759	Neurodevelopmental abnormality	6443	SGCB	ORPHA:119
HP:0012759	Neurodevelopmental abnormality	695	BTK	OMIM:300755
HP:0012759	Neurodevelopmental abnormality	2495	FTH1	OMIM:620669
HP:0012759	Neurodevelopmental abnormality	4967	OGDH	OMIM:203740
HP:0012759	Neurodevelopmental abnormality	6096	RORB	OMIM:618357
HP:0012759	Neurodevelopmental abnormality	10588	MTHFS	OMIM:618367
HP:0012759	Neurodevelopmental abnormality	92255	LMBRD2	OMIM:619694
HP:0012759	Neurodevelopmental abnormality	2019	EN1	OMIM:619218
HP:0012759	Neurodevelopmental abnormality	549	AUH	OMIM:250950
HP:0012759	Neurodevelopmental abnormality	549	AUH	ORPHA:67046
HP:0012759	Neurodevelopmental abnormality	63931	MRPS14	OMIM:618378
HP:0012759	Neurodevelopmental abnormality	84065	TMEM222	OMIM:619470
HP:0012759	Neurodevelopmental abnormality	4361	MRE11	ORPHA:251347
HP:0012759	Neurodevelopmental abnormality	4361	MRE11	OMIM:604391
HP:0012759	Neurodevelopmental abnormality	25839	COG4	OMIM:618150
HP:0012759	Neurodevelopmental abnormality	23387	SIK3	OMIM:618162
HP:0012759	Neurodevelopmental abnormality	51082	POLR1D	OMIM:613717
HP:0012759	Neurodevelopmental abnormality	51082	POLR1D	ORPHA:861
HP:0012759	Neurodevelopmental abnormality	2801	GOLGA2	OMIM:620240
HP:0012759	Neurodevelopmental abnormality	340990	OTOG	OMIM:614945
HP:0012759	Neurodevelopmental abnormality	3199	HOXA2	ORPHA:83463
HP:0012759	Neurodevelopmental abnormality	4001	LMNB1	OMIM:619179
HP:0012759	Neurodevelopmental abnormality	56984	PSMG2	OMIM:619183
HP:0012759	Neurodevelopmental abnormality	3211	HOXB1	OMIM:614744
HP:0012759	Neurodevelopmental abnormality	34	ACADM	ORPHA:42
HP:0012759	Neurodevelopmental abnormality	55149	MTPAP	OMIM:613672
HP:0012759	Neurodevelopmental abnormality	89891	DYNC2I2	OMIM:615633
HP:0012759	Neurodevelopmental abnormality	132	ADK	OMIM:614300
HP:0012759	Neurodevelopmental abnormality	23028	KDM1A	OMIM:616728
HP:0012759	Neurodevelopmental abnormality	23028	KDM1A	ORPHA:477993
HP:0012759	Neurodevelopmental abnormality	90161	HS6ST2	OMIM:301025
HP:0012759	Neurodevelopmental abnormality	91137	SLC25A46	OMIM:616505
HP:0012759	Neurodevelopmental abnormality	6678	SPARC	OMIM:616507
HP:0012759	Neurodevelopmental abnormality	79853	TM4SF20	OMIM:615432
HP:0012759	Neurodevelopmental abnormality	9699	RIMS2	OMIM:618970
HP:0012759	Neurodevelopmental abnormality	84148	KAT8	OMIM:618974
HP:0012759	Neurodevelopmental abnormality	27034	ACAD8	ORPHA:79159
HP:0012759	Neurodevelopmental abnormality	91452	ACBD5	OMIM:618863
HP:0012759	Neurodevelopmental abnormality	4750	NEK1	OMIM:263520
HP:0012759	Neurodevelopmental abnormality	23446	SLC44A1	OMIM:618868
HP:0012759	Neurodevelopmental abnormality	10054	UBA2	OMIM:619959
HP:0012759	Neurodevelopmental abnormality	28960	DCPS	OMIM:616459
HP:0012759	Neurodevelopmental abnormality	27102	EIF2AK1	OMIM:618878
HP:0012759	Neurodevelopmental abnormality	137492	VPS37A	ORPHA:319199
HP:0012759	Neurodevelopmental abnormality	137492	VPS37A	OMIM:614898
HP:0012759	Neurodevelopmental abnormality	23184	MESD	OMIM:618644
HP:0012759	Neurodevelopmental abnormality	8560	DEGS1	OMIM:618404
HP:0012759	Neurodevelopmental abnormality	2744	GLS	OMIM:618412
HP:0012759	Neurodevelopmental abnormality	83636	C19orf12	OMIM:614298
HP:0012759	Neurodevelopmental abnormality	26057	ANKRD17	OMIM:619504
HP:0012759	Neurodevelopmental abnormality	22	ABCB7	ORPHA:2802
HP:0012759	Neurodevelopmental abnormality	256471	MFSD8	OMIM:610951
HP:0012759	Neurodevelopmental abnormality	25981	DNAH1	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	115948	ODAD3	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	54768	HYDIN	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	352909	DNAAF3	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	27148	STK36	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	51314	NME8	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	92749	DRC1	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	54970	TTC12	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	152110	NEK10	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	2302	FOXJ1	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	221421	RSPH9	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	85478	CCDC65	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	55036	CCDC40	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	51364	ZMYND10	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	64446	DNAI2	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	8382	NME5	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	6674	SPAG1	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	83544	DNAL1	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	89765	RSPH1	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	83538	ODAD4	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	200373	CFAP221	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	374407	DNAJB13	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	55172	DNAAF2	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	2622	GAS8	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	23639	DNAAF11	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	27019	DNAI1	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	345895	RSPH4A	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	54919	DNAAF5	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	6103	RPGR	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	85452	CFAP74	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	93233	ODAD1	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	55130	ODAD2	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	1767	DNAH5	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	83861	RSPH3	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	345643	MCIDAS	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	56683	CFAP298	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	79925	SPEF2	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	10309	CCNO	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	115399	LRRC56	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	139212	DNAAF6	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	123872	DNAAF1	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	85016	CFAP300	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	339829	CCDC39	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	8701	DNAH11	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	1770	DNAH9	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	246176	GAS2L2	ORPHA:244
HP:0012759	Neurodevelopmental abnormality	78987	CRELD1	OMIM:620771
HP:0012759	Neurodevelopmental abnormality	6477	SIAH1	OMIM:619314
HP:0012759	Neurodevelopmental abnormality	84320	ACBD6	OMIM:620785
HP:0012759	Neurodevelopmental abnormality	6263	RYR3	OMIM:620310
HP:0012759	Neurodevelopmental abnormality	161725	OTUD7A	OMIM:620790
HP:0012759	Neurodevelopmental abnormality	1725	DHPS	OMIM:618480
HP:0012759	Neurodevelopmental abnormality	25929	GEMIN5	OMIM:619333
HP:0012759	Neurodevelopmental abnormality	9969	MED13	OMIM:618009
HP:0012759	Neurodevelopmental abnormality	9496	TBX4	ORPHA:261279
HP:0012759	Neurodevelopmental abnormality	8635	RNASET2	OMIM:612951
HP:0012759	Neurodevelopmental abnormality	55526	DHTKD1	OMIM:204750
HP:0012759	Neurodevelopmental abnormality	3839	KPNA3	OMIM:620106
HP:0012759	Neurodevelopmental abnormality	2077	ERF	OMIM:617180
HP:0012759	Neurodevelopmental abnormality	2077	ERF	OMIM:600775
HP:0012759	Neurodevelopmental abnormality	90522	YIF1B	OMIM:619125
HP:0012759	Neurodevelopmental abnormality	64858	DCLRE1B	OMIM:620133
HP:0012759	Neurodevelopmental abnormality	9325	TRIP4	ORPHA:486815
HP:0012759	Neurodevelopmental abnormality	90952	ESAM	OMIM:620371
HP:0012759	Neurodevelopmental abnormality	4702	NDUFA8	OMIM:619272
HP:0012759	Neurodevelopmental abnormality	375	ARF1	OMIM:618185
HP:0012759	Neurodevelopmental abnormality	55503	TRPV6	OMIM:618188
HP:0012759	Neurodevelopmental abnormality	116228	COX20	OMIM:619054
HP:0012759	Neurodevelopmental abnormality	4697	NDUFA4	OMIM:619065
HP:0012759	Neurodevelopmental abnormality	2615	LRRC32	OMIM:619074
HP:0012759	Neurodevelopmental abnormality	4953	ODC1	OMIM:619075
HP:0012759	Neurodevelopmental abnormality	1028	CDKN1C	ORPHA:397590
HP:0012759	Neurodevelopmental abnormality	5324	PLAG1	ORPHA:397590
HP:0012759	Neurodevelopmental abnormality	286262	TPRN	OMIM:613307
HP:0012759	Neurodevelopmental abnormality	51244	CCDC174	OMIM:616816
HP:0012759	Neurodevelopmental abnormality	1384	CRAT	OMIM:617917
HP:0012759	Neurodevelopmental abnormality	85021	REPS1	OMIM:617916
HP:0012759	Neurodevelopmental abnormality	197322	ACSF3	ORPHA:289504
HP:0012759	Neurodevelopmental abnormality	9775	EIF4A3	OMIM:268305
HP:0012759	Neurodevelopmental abnormality	93183	PIGM	OMIM:610293
HP:0012759	Neurodevelopmental abnormality	27152	INTU	OMIM:617926
HP:0012759	Neurodevelopmental abnormality	658	BMPR1B	OMIM:616849
HP:0012759	Neurodevelopmental abnormality	55784	MCTP2	ORPHA:1596
HP:0012759	Neurodevelopmental abnormality	10484	SEC23A	ORPHA:50814
HP:0012759	Neurodevelopmental abnormality	55603	TENT5A	OMIM:617952
HP:0012759	Neurodevelopmental abnormality	26007	TKFC	OMIM:618805
HP:0012759	Neurodevelopmental abnormality	5257	PHKB	ORPHA:79240
HP:0012759	Neurodevelopmental abnormality	4287	ATXN3	ORPHA:276238
HP:0012759	Neurodevelopmental abnormality	4287	ATXN3	ORPHA:276244
HP:0012759	Neurodevelopmental abnormality	4287	ATXN3	ORPHA:276241
HP:0012759	Neurodevelopmental abnormality	2464	FRA16E	OMIM:136570
HP:0012759	Neurodevelopmental abnormality	126792	B3GALT6	ORPHA:536467
HP:0012759	Neurodevelopmental abnormality	4848	CNOT2	OMIM:618608
HP:0012759	Neurodevelopmental abnormality	401474	SAMD12	OMIM:601068
HP:0012759	Neurodevelopmental abnormality	401474	SAMD12	ORPHA:86814
HP:0012759	Neurodevelopmental abnormality	875	CBS	ORPHA:394
HP:0012759	Neurodevelopmental abnormality	875	CBS	OMIM:236200
HP:0012759	Neurodevelopmental abnormality	4524	MTHFR	ORPHA:395
HP:0012759	Neurodevelopmental abnormality	55703	POLR3B	OMIM:614381
HP:0012759	Neurodevelopmental abnormality	55703	POLR3B	OMIM:619742
HP:0012759	Neurodevelopmental abnormality	51256	TBC1D7	OMIM:248000
HP:0012759	Neurodevelopmental abnormality	1139	CHRNA7	ORPHA:199318
HP:0012759	Neurodevelopmental abnormality	51569	UFM1	OMIM:617899
HP:0012759	Neurodevelopmental abnormality	1024	CDK8	OMIM:618748
HP:0012759	Neurodevelopmental abnormality	51099	ABHD5	OMIM:275630
HP:0012759	Neurodevelopmental abnormality	55209	SETD5	ORPHA:404440
HP:0012759	Neurodevelopmental abnormality	55209	SETD5	OMIM:615761
HP:0012759	Neurodevelopmental abnormality	2731	GLDC	OMIM:605899
HP:0012759	Neurodevelopmental abnormality	5781	PTPN11	OMIM:156250
HP:0012759	Neurodevelopmental abnormality	5781	PTPN11	ORPHA:648
HP:0012759	Neurodevelopmental abnormality	5781	PTPN11	OMIM:163950
HP:0012759	Neurodevelopmental abnormality	5354	PLP1	ORPHA:99015
HP:0012759	Neurodevelopmental abnormality	5354	PLP1	OMIM:312080
HP:0012759	Neurodevelopmental abnormality	5354	PLP1	OMIM:312920
HP:0012759	Neurodevelopmental abnormality	3481	IGF2	ORPHA:231140
HP:0012759	Neurodevelopmental abnormality	283120	H19	ORPHA:231140
HP:0012759	Neurodevelopmental abnormality	396	ARHGDIA	OMIM:615244
HP:0012759	Neurodevelopmental abnormality	283489	CHAMP1	OMIM:616579
HP:0012759	Neurodevelopmental abnormality	2348	FOLR1	OMIM:613068
HP:0012759	Neurodevelopmental abnormality	23322	RPGRIP1L	ORPHA:220497
HP:0012759	Neurodevelopmental abnormality	23322	RPGRIP1L	OMIM:611560
HP:0012759	Neurodevelopmental abnormality	4867	NPHP1	ORPHA:220497
HP:0012759	Neurodevelopmental abnormality	4867	NPHP1	OMIM:266900
HP:0012759	Neurodevelopmental abnormality	4867	NPHP1	ORPHA:110
HP:0012759	Neurodevelopmental abnormality	65062	TMEM237	ORPHA:220497
HP:0012759	Neurodevelopmental abnormality	65062	TMEM237	ORPHA:2318
HP:0012759	Neurodevelopmental abnormality	65062	TMEM237	ORPHA:475
HP:0012759	Neurodevelopmental abnormality	27245	AHDC1	ORPHA:412069
HP:0012759	Neurodevelopmental abnormality	27245	AHDC1	OMIM:615829
HP:0012759	Neurodevelopmental abnormality	478	ATP1A3	OMIM:619606
HP:0012759	Neurodevelopmental abnormality	478	ATP1A3	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	478	ATP1A3	ORPHA:2131
HP:0012759	Neurodevelopmental abnormality	478	ATP1A3	OMIM:614820
HP:0012759	Neurodevelopmental abnormality	2137	EXTL3	OMIM:617425
HP:0012759	Neurodevelopmental abnormality	2137	EXTL3	ORPHA:508533
HP:0012759	Neurodevelopmental abnormality	54806	AHI1	ORPHA:220493
HP:0012759	Neurodevelopmental abnormality	54806	AHI1	ORPHA:475
HP:0012759	Neurodevelopmental abnormality	54806	AHI1	OMIM:608629
HP:0012759	Neurodevelopmental abnormality	56623	INPP5E	ORPHA:220493
HP:0012759	Neurodevelopmental abnormality	56623	INPP5E	OMIM:213300
HP:0012759	Neurodevelopmental abnormality	56623	INPP5E	ORPHA:475
HP:0012759	Neurodevelopmental abnormality	153241	CEP120	ORPHA:220493
HP:0012759	Neurodevelopmental abnormality	153241	CEP120	ORPHA:475
HP:0012759	Neurodevelopmental abnormality	54903	MKS1	ORPHA:220493
HP:0012759	Neurodevelopmental abnormality	54903	MKS1	OMIM:615990
HP:0012759	Neurodevelopmental abnormality	54903	MKS1	ORPHA:110
HP:0012759	Neurodevelopmental abnormality	54903	MKS1	ORPHA:475
HP:0012759	Neurodevelopmental abnormality	54903	MKS1	OMIM:617121
HP:0012759	Neurodevelopmental abnormality	95681	CEP41	ORPHA:220493
HP:0012759	Neurodevelopmental abnormality	95681	CEP41	ORPHA:475
HP:0012759	Neurodevelopmental abnormality	95681	CEP41	OMIM:614464
HP:0012759	Neurodevelopmental abnormality	55768	NGLY1	ORPHA:404454
HP:0012759	Neurodevelopmental abnormality	55768	NGLY1	OMIM:615273
HP:0012759	Neurodevelopmental abnormality	1161	ERCC8	OMIM:216400
HP:0012759	Neurodevelopmental abnormality	1161	ERCC8	ORPHA:90321
HP:0012759	Neurodevelopmental abnormality	1161	ERCC8	ORPHA:90322
HP:0012759	Neurodevelopmental abnormality	57589	RIC1	OMIM:618761
HP:0012759	Neurodevelopmental abnormality	3190	HNRNPK	OMIM:616580
HP:0012759	Neurodevelopmental abnormality	317662	FAM149B1	OMIM:618763
HP:0012759	Neurodevelopmental abnormality	317662	FAM149B1	ORPHA:2754
HP:0012759	Neurodevelopmental abnormality	5832	ALDH18A1	OMIM:616586
HP:0012759	Neurodevelopmental abnormality	5832	ALDH18A1	ORPHA:35664
HP:0012759	Neurodevelopmental abnormality	5832	ALDH18A1	OMIM:219150
HP:0012759	Neurodevelopmental abnormality	6844	VAMP2	OMIM:618760
HP:0012759	Neurodevelopmental abnormality	79029	AFG2B	OMIM:619616
HP:0012759	Neurodevelopmental abnormality	79029	AFG2B	OMIM:619615
HP:0012759	Neurodevelopmental abnormality	2261	FGFR3	OMIM:146000
HP:0012759	Neurodevelopmental abnormality	2261	FGFR3	OMIM:616482
HP:0012759	Neurodevelopmental abnormality	2261	FGFR3	ORPHA:35099
HP:0012759	Neurodevelopmental abnormality	2261	FGFR3	ORPHA:429
HP:0012759	Neurodevelopmental abnormality	2261	FGFR3	OMIM:602849
HP:0012759	Neurodevelopmental abnormality	2261	FGFR3	OMIM:610474
HP:0012759	Neurodevelopmental abnormality	10111	RAD50	OMIM:613078
HP:0012759	Neurodevelopmental abnormality	54880	BCOR	ORPHA:2712
HP:0012759	Neurodevelopmental abnormality	54880	BCOR	ORPHA:568
HP:0012759	Neurodevelopmental abnormality	54880	BCOR	OMIM:309800
HP:0012759	Neurodevelopmental abnormality	7436	VLDLR	OMIM:224050
HP:0012759	Neurodevelopmental abnormality	7436	VLDLR	ORPHA:1766
HP:0012759	Neurodevelopmental abnormality	5191	PEX7	OMIM:215100
HP:0012759	Neurodevelopmental abnormality	5191	PEX7	OMIM:614879
HP:0012759	Neurodevelopmental abnormality	8659	ALDH4A1	OMIM:239510
HP:0012759	Neurodevelopmental abnormality	8659	ALDH4A1	ORPHA:79101
HP:0012759	Neurodevelopmental abnormality	2697	GJA1	ORPHA:2710
HP:0012759	Neurodevelopmental abnormality	2697	GJA1	ORPHA:317
HP:0012759	Neurodevelopmental abnormality	2697	GJA1	OMIM:164200
HP:0012759	Neurodevelopmental abnormality	2697	GJA1	OMIM:218400
HP:0012759	Neurodevelopmental abnormality	4313	MMP2	ORPHA:371428
HP:0012759	Neurodevelopmental abnormality	4323	MMP14	ORPHA:371428
HP:0012759	Neurodevelopmental abnormality	59341	TRPV4	OMIM:113500
HP:0012759	Neurodevelopmental abnormality	59341	TRPV4	OMIM:168400
HP:0012759	Neurodevelopmental abnormality	59341	TRPV4	OMIM:184095
HP:0012759	Neurodevelopmental abnormality	9401	RECQL4	OMIM:218600
HP:0012759	Neurodevelopmental abnormality	9401	RECQL4	OMIM:268400
HP:0012759	Neurodevelopmental abnormality	9401	RECQL4	ORPHA:221016
HP:0012759	Neurodevelopmental abnormality	5159	PDGFRB	OMIM:616592
HP:0012759	Neurodevelopmental abnormality	4330	MN1	OMIM:618774
HP:0012759	Neurodevelopmental abnormality	9997	SCO2	OMIM:608908
HP:0012759	Neurodevelopmental abnormality	5833	PCYT2	OMIM:618770
HP:0012759	Neurodevelopmental abnormality	1280	COL2A1	ORPHA:90653
HP:0012759	Neurodevelopmental abnormality	1280	COL2A1	OMIM:184250
HP:0012759	Neurodevelopmental abnormality	1280	COL2A1	ORPHA:85198
HP:0012759	Neurodevelopmental abnormality	8036	SHOC2	ORPHA:2701
HP:0012759	Neurodevelopmental abnormality	8036	SHOC2	OMIM:607721
HP:0012759	Neurodevelopmental abnormality	5500	PPP1CB	ORPHA:2701
HP:0012759	Neurodevelopmental abnormality	3340	NDST1	OMIM:616116
HP:0012759	Neurodevelopmental abnormality	51761	ATP8A2	OMIM:615268
HP:0012759	Neurodevelopmental abnormality	51761	ATP8A2	ORPHA:1766
HP:0012759	Neurodevelopmental abnormality	89910	UBE3B	ORPHA:2707
HP:0012759	Neurodevelopmental abnormality	6602	SMARCD1	OMIM:618779
HP:0012759	Neurodevelopmental abnormality	54	ACP5	ORPHA:1855
HP:0012759	Neurodevelopmental abnormality	2316	FLNA	ORPHA:90652
HP:0012759	Neurodevelopmental abnormality	2316	FLNA	ORPHA:1826
HP:0012759	Neurodevelopmental abnormality	2316	FLNA	OMIM:305620
HP:0012759	Neurodevelopmental abnormality	2316	FLNA	OMIM:304120
HP:0012759	Neurodevelopmental abnormality	1499	CTNNB1	ORPHA:54595
HP:0012759	Neurodevelopmental abnormality	1499	CTNNB1	ORPHA:404473
HP:0012759	Neurodevelopmental abnormality	1499	CTNNB1	OMIM:615075
HP:0012759	Neurodevelopmental abnormality	673	BRAF	ORPHA:54595
HP:0012759	Neurodevelopmental abnormality	673	BRAF	OMIM:613707
HP:0012759	Neurodevelopmental abnormality	673	BRAF	OMIM:613706
HP:0012759	Neurodevelopmental abnormality	673	BRAF	OMIM:115150
HP:0012759	Neurodevelopmental abnormality	673	BRAF	ORPHA:1340
HP:0012759	Neurodevelopmental abnormality	673	BRAF	OMIM:163950
HP:0012759	Neurodevelopmental abnormality	55131	RBM28	ORPHA:157954
HP:0012759	Neurodevelopmental abnormality	55131	RBM28	OMIM:612079
HP:0012759	Neurodevelopmental abnormality	9131	AIFM1	ORPHA:101078
HP:0012759	Neurodevelopmental abnormality	9131	AIFM1	ORPHA:83629
HP:0012759	Neurodevelopmental abnormality	9131	AIFM1	OMIM:300614
HP:0012759	Neurodevelopmental abnormality	9131	AIFM1	OMIM:310490
HP:0012759	Neurodevelopmental abnormality	1187	CLCNKA	OMIM:613090
HP:0012759	Neurodevelopmental abnormality	1188	CLCNKB	OMIM:613090
HP:0012759	Neurodevelopmental abnormality	5476	CTSA	ORPHA:351
HP:0012759	Neurodevelopmental abnormality	5476	CTSA	OMIM:256540
HP:0012759	Neurodevelopmental abnormality	8493	PPM1D	OMIM:617450
HP:0012759	Neurodevelopmental abnormality	23512	SUZ12	OMIM:618786
HP:0012759	Neurodevelopmental abnormality	23512	SUZ12	ORPHA:3447
HP:0012759	Neurodevelopmental abnormality	6905	TBCE	OMIM:241410
HP:0012759	Neurodevelopmental abnormality	6905	TBCE	ORPHA:2323
HP:0012759	Neurodevelopmental abnormality	6905	TBCE	OMIM:617207
HP:0012759	Neurodevelopmental abnormality	6905	TBCE	ORPHA:496756
HP:0012759	Neurodevelopmental abnormality	55280	CWF19L1	OMIM:616127
HP:0012759	Neurodevelopmental abnormality	5604	MAP2K1	OMIM:615279
HP:0012759	Neurodevelopmental abnormality	5604	MAP2K1	ORPHA:1340
HP:0012759	Neurodevelopmental abnormality	5604	MAP2K1	OMIM:163950
HP:0012759	Neurodevelopmental abnormality	9289	ADGRG1	ORPHA:101070
HP:0012759	Neurodevelopmental abnormality	9289	ADGRG1	OMIM:606854
HP:0012759	Neurodevelopmental abnormality	9289	ADGRG1	ORPHA:98889
HP:0012759	Neurodevelopmental abnormality	9289	ADGRG1	OMIM:615752
HP:0012759	Neurodevelopmental abnormality	5728	PTEN	ORPHA:101070
HP:0012759	Neurodevelopmental abnormality	5728	PTEN	OMIM:605309
HP:0012759	Neurodevelopmental abnormality	5728	PTEN	ORPHA:210548
HP:0012759	Neurodevelopmental abnormality	5728	PTEN	ORPHA:201
HP:0012759	Neurodevelopmental abnormality	5728	PTEN	ORPHA:79076
HP:0012759	Neurodevelopmental abnormality	5728	PTEN	OMIM:158350
HP:0012759	Neurodevelopmental abnormality	5728	PTEN	ORPHA:2969
HP:0012759	Neurodevelopmental abnormality	5728	PTEN	ORPHA:109
HP:0012759	Neurodevelopmental abnormality	2203	FBP1	ORPHA:348
HP:0012759	Neurodevelopmental abnormality	1311	COMP	OMIM:177170
HP:0012759	Neurodevelopmental abnormality	79718	TBL1XR1	OMIM:602342
HP:0012759	Neurodevelopmental abnormality	79718	TBL1XR1	OMIM:616944
HP:0012759	Neurodevelopmental abnormality	79718	TBL1XR1	ORPHA:487825
HP:0012759	Neurodevelopmental abnormality	3766	KCNJ10	ORPHA:199343
HP:0012759	Neurodevelopmental abnormality	3766	KCNJ10	OMIM:274600
HP:0012759	Neurodevelopmental abnormality	3766	KCNJ10	ORPHA:705
HP:0012759	Neurodevelopmental abnormality	3766	KCNJ10	OMIM:612780
HP:0012759	Neurodevelopmental abnormality	6305	SBF1	OMIM:615284
HP:0012759	Neurodevelopmental abnormality	113179	ADAT3	OMIM:615286
HP:0012759	Neurodevelopmental abnormality	113179	ADAT3	ORPHA:363528
HP:0012759	Neurodevelopmental abnormality	1742	DLG4	OMIM:618793
HP:0012759	Neurodevelopmental abnormality	2904	GRIN2B	OMIM:616139
HP:0012759	Neurodevelopmental abnormality	2904	GRIN2B	OMIM:613970
HP:0012759	Neurodevelopmental abnormality	200424	TET3	OMIM:618798
HP:0012759	Neurodevelopmental abnormality	79971	WLS	OMIM:619648
HP:0012759	Neurodevelopmental abnormality	9711	RUBCN	ORPHA:404499
HP:0012759	Neurodevelopmental abnormality	9711	RUBCN	OMIM:615705
HP:0012759	Neurodevelopmental abnormality	56652	TWNK	OMIM:271245
HP:0012759	Neurodevelopmental abnormality	57688	ZSWIM6	OMIM:603671
HP:0012759	Neurodevelopmental abnormality	57688	ZSWIM6	ORPHA:1827
HP:0012759	Neurodevelopmental abnormality	57688	ZSWIM6	OMIM:617865
HP:0012759	Neurodevelopmental abnormality	51567	TDP2	ORPHA:404493
HP:0012759	Neurodevelopmental abnormality	51567	TDP2	OMIM:616949
HP:0012759	Neurodevelopmental abnormality	90	ACVR1	ORPHA:337
HP:0012759	Neurodevelopmental abnormality	57609	DIP2B	OMIM:136630
HP:0012759	Neurodevelopmental abnormality	6654	SOS1	OMIM:135300
HP:0012759	Neurodevelopmental abnormality	6654	SOS1	OMIM:610733
HP:0012759	Neurodevelopmental abnormality	6654	SOS1	ORPHA:648
HP:0012759	Neurodevelopmental abnormality	5727	PTCH1	ORPHA:377
HP:0012759	Neurodevelopmental abnormality	5727	PTCH1	OMIM:109400
HP:0012759	Neurodevelopmental abnormality	5727	PTCH1	ORPHA:280195
HP:0012759	Neurodevelopmental abnormality	5727	PTCH1	ORPHA:220386
HP:0012759	Neurodevelopmental abnormality	5727	PTCH1	ORPHA:280200
HP:0012759	Neurodevelopmental abnormality	5727	PTCH1	ORPHA:77301
HP:0012759	Neurodevelopmental abnormality	5727	PTCH1	ORPHA:93926
HP:0012759	Neurodevelopmental abnormality	5727	PTCH1	ORPHA:93924
HP:0012759	Neurodevelopmental abnormality	5727	PTCH1	ORPHA:93925
HP:0012759	Neurodevelopmental abnormality	8643	PTCH2	ORPHA:377
HP:0012759	Neurodevelopmental abnormality	51684	SUFU	ORPHA:377
HP:0012759	Neurodevelopmental abnormality	51684	SUFU	ORPHA:280200
HP:0012759	Neurodevelopmental abnormality	51684	SUFU	ORPHA:475
HP:0012759	Neurodevelopmental abnormality	23299	BICD2	OMIM:615290
HP:0012759	Neurodevelopmental abnormality	775	CACNA1C	OMIM:601005
HP:0012759	Neurodevelopmental abnormality	775	CACNA1C	OMIM:620029
HP:0012759	Neurodevelopmental abnormality	775	CACNA1C	OMIM:618447
HP:0012759	Neurodevelopmental abnormality	2239	GPC4	ORPHA:373
HP:0012759	Neurodevelopmental abnormality	2239	GPC4	OMIM:301026
HP:0012759	Neurodevelopmental abnormality	2719	GPC3	ORPHA:373
HP:0012759	Neurodevelopmental abnormality	84168	ANTXR1	OMIM:230740
HP:0012759	Neurodevelopmental abnormality	6240	RRM1	OMIM:620647
HP:0012759	Neurodevelopmental abnormality	25836	NIPBL	OMIM:122470
HP:0012759	Neurodevelopmental abnormality	25836	NIPBL	ORPHA:199
HP:0012759	Neurodevelopmental abnormality	6885	MAP3K7	ORPHA:1826
HP:0012759	Neurodevelopmental abnormality	100151683	RNU4ATAC	ORPHA:1824
HP:0012759	Neurodevelopmental abnormality	100151683	RNU4ATAC	OMIM:210710
HP:0012759	Neurodevelopmental abnormality	100151683	RNU4ATAC	ORPHA:2636
HP:0012759	Neurodevelopmental abnormality	2778	GNAS	ORPHA:79443
HP:0012759	Neurodevelopmental abnormality	2778	GNAS	ORPHA:79444
HP:0012759	Neurodevelopmental abnormality	2778	GNAS	ORPHA:79445
HP:0012759	Neurodevelopmental abnormality	2778	GNAS	OMIM:612463
HP:0012759	Neurodevelopmental abnormality	2778	GNAS	OMIM:612462
HP:0012759	Neurodevelopmental abnormality	2778	GNAS	OMIM:103580
HP:0012759	Neurodevelopmental abnormality	84100	ARL6	OMIM:600151
HP:0012759	Neurodevelopmental abnormality	84100	ARL6	OMIM:209900
HP:0012759	Neurodevelopmental abnormality	84100	ARL6	ORPHA:110
HP:0012759	Neurodevelopmental abnormality	79648	MCPH1	OMIM:251200
HP:0012759	Neurodevelopmental abnormality	56246	MRAP	ORPHA:361
HP:0012759	Neurodevelopmental abnormality	6770	STAR	ORPHA:361
HP:0012759	Neurodevelopmental abnormality	4158	MC2R	ORPHA:361
HP:0012759	Neurodevelopmental abnormality	23530	NNT	ORPHA:361
HP:0012759	Neurodevelopmental abnormality	10587	TXNRD2	ORPHA:361
HP:0012759	Neurodevelopmental abnormality	5649	RELN	ORPHA:101046
HP:0012759	Neurodevelopmental abnormality	5649	RELN	ORPHA:89844
HP:0012759	Neurodevelopmental abnormality	9211	LGI1	ORPHA:101046
HP:0012759	Neurodevelopmental abnormality	9681	DEPDC5	ORPHA:101046
HP:0012759	Neurodevelopmental abnormality	9681	DEPDC5	OMIM:604364
HP:0012759	Neurodevelopmental abnormality	9681	DEPDC5	ORPHA:98820
HP:0012759	Neurodevelopmental abnormality	1387	CREBBP	OMIM:618332
HP:0012759	Neurodevelopmental abnormality	1387	CREBBP	ORPHA:353281
HP:0012759	Neurodevelopmental abnormality	1387	CREBBP	ORPHA:353277
HP:0012759	Neurodevelopmental abnormality	1387	CREBBP	OMIM:180849
HP:0012759	Neurodevelopmental abnormality	1387	CREBBP	ORPHA:592574
HP:0012759	Neurodevelopmental abnormality	2033	EP300	OMIM:618333
HP:0012759	Neurodevelopmental abnormality	2033	EP300	ORPHA:353284
HP:0012759	Neurodevelopmental abnormality	2033	EP300	OMIM:613684
HP:0012759	Neurodevelopmental abnormality	2033	EP300	OMIM:180849
HP:0012759	Neurodevelopmental abnormality	1523	CUX1	OMIM:618330
HP:0012759	Neurodevelopmental abnormality	3000	GUCY2D	OMIM:204000
HP:0012759	Neurodevelopmental abnormality	3000	GUCY2D	ORPHA:65
HP:0012759	Neurodevelopmental abnormality	5813	PURA	OMIM:616158
HP:0012759	Neurodevelopmental abnormality	5910	RAP1GDS1	OMIM:620655
HP:0012759	Neurodevelopmental abnormality	835	CASP2	OMIM:620653
HP:0012759	Neurodevelopmental abnormality	435	ASL	ORPHA:23
HP:0012759	Neurodevelopmental abnormality	435	ASL	OMIM:207900
HP:0012759	Neurodevelopmental abnormality	3480	IGF1R	ORPHA:73273
HP:0012759	Neurodevelopmental abnormality	3480	IGF1R	OMIM:270450
HP:0012759	Neurodevelopmental abnormality	3479	IGF1	ORPHA:73272
HP:0012759	Neurodevelopmental abnormality	3479	IGF1	OMIM:608747
HP:0012759	Neurodevelopmental abnormality	2074	ERCC6	OMIM:133540
HP:0012759	Neurodevelopmental abnormality	2074	ERCC6	ORPHA:90321
HP:0012759	Neurodevelopmental abnormality	2074	ERCC6	ORPHA:90322
HP:0012759	Neurodevelopmental abnormality	2074	ERCC6	OMIM:278800
HP:0012759	Neurodevelopmental abnormality	57526	PCDH19	ORPHA:101039
HP:0012759	Neurodevelopmental abnormality	57526	PCDH19	OMIM:300088
HP:0012759	Neurodevelopmental abnormality	7915	ALDH5A1	ORPHA:22
HP:0012759	Neurodevelopmental abnormality	7915	ALDH5A1	OMIM:271980
HP:0012759	Neurodevelopmental abnormality	6448	SGSH	OMIM:252900
HP:0012759	Neurodevelopmental abnormality	8925	HERC1	OMIM:617011
HP:0012759	Neurodevelopmental abnormality	4598	MVK	ORPHA:29
HP:0012759	Neurodevelopmental abnormality	23516	SLC39A14	OMIM:617013
HP:0012759	Neurodevelopmental abnormality	23516	SLC39A14	ORPHA:521406
HP:0012759	Neurodevelopmental abnormality	54517	PUS7	OMIM:618342
HP:0012759	Neurodevelopmental abnormality	10564	ARFGEF2	OMIM:608097
HP:0012759	Neurodevelopmental abnormality	10785	WDR4	OMIM:618347
HP:0012759	Neurodevelopmental abnormality	1798	DPAGT1	OMIM:608093
HP:0012759	Neurodevelopmental abnormality	57122	NUP107	OMIM:618348
HP:0012759	Neurodevelopmental abnormality	51259	TMEM216	OMIM:608091
HP:0012759	Neurodevelopmental abnormality	51259	TMEM216	ORPHA:2318
HP:0012759	Neurodevelopmental abnormality	51259	TMEM216	ORPHA:2754
HP:0012759	Neurodevelopmental abnormality	114327	EFHC1	ORPHA:307
HP:0012759	Neurodevelopmental abnormality	114327	EFHC1	OMIM:254770
HP:0012759	Neurodevelopmental abnormality	2563	GABRD	ORPHA:307
HP:0012759	Neurodevelopmental abnormality	2563	GABRD	ORPHA:1606
HP:0012759	Neurodevelopmental abnormality	1181	CLCN2	ORPHA:307
HP:0012759	Neurodevelopmental abnormality	2554	GABRA1	ORPHA:307
HP:0012759	Neurodevelopmental abnormality	2554	GABRA1	ORPHA:64280
HP:0012759	Neurodevelopmental abnormality	2554	GABRA1	OMIM:615744
HP:0012759	Neurodevelopmental abnormality	3786	KCNQ3	ORPHA:307
HP:0012759	Neurodevelopmental abnormality	3786	KCNQ3	OMIM:121201
HP:0012759	Neurodevelopmental abnormality	22858	CILK1	ORPHA:307
HP:0012759	Neurodevelopmental abnormality	8629	JRK	ORPHA:307
HP:0012759	Neurodevelopmental abnormality	8629	JRK	ORPHA:64280
HP:0012759	Neurodevelopmental abnormality	785	CACNB4	ORPHA:307
HP:0012759	Neurodevelopmental abnormality	785	CACNB4	OMIM:607682
HP:0012759	Neurodevelopmental abnormality	90459	ERI1	OMIM:620663
HP:0012759	Neurodevelopmental abnormality	90459	ERI1	OMIM:620662
HP:0012759	Neurodevelopmental abnormality	144165	PRICKLE1	ORPHA:308
HP:0012759	Neurodevelopmental abnormality	1476	CSTB	ORPHA:308
HP:0012759	Neurodevelopmental abnormality	950	SCARB2	ORPHA:308
HP:0012759	Neurodevelopmental abnormality	7038	TG	OMIM:274700
HP:0012759	Neurodevelopmental abnormality	7038	TG	ORPHA:95716
HP:0012759	Neurodevelopmental abnormality	100033413	SNORD116-1	OMIM:176270
HP:0012759	Neurodevelopmental abnormality	8924	HERC2	OMIM:176270
HP:0012759	Neurodevelopmental abnormality	8924	HERC2	OMIM:615516
HP:0012759	Neurodevelopmental abnormality	23742	NPAP1	OMIM:176270
HP:0012759	Neurodevelopmental abnormality	338433	SNORD115-1	OMIM:176270
HP:0012759	Neurodevelopmental abnormality	54551	MAGEL2	OMIM:176270
HP:0012759	Neurodevelopmental abnormality	54551	MAGEL2	ORPHA:398069
HP:0012759	Neurodevelopmental abnormality	54551	MAGEL2	OMIM:615547
HP:0012759	Neurodevelopmental abnormality	7681	MKRN3	OMIM:176270
HP:0012759	Neurodevelopmental abnormality	145624	PWAR1	OMIM:176270
HP:0012759	Neurodevelopmental abnormality	3653	IPW	OMIM:176270
HP:0012759	Neurodevelopmental abnormality	791114	PWRN1	OMIM:176270
HP:0012759	Neurodevelopmental abnormality	5095	PCCA	ORPHA:35
HP:0012759	Neurodevelopmental abnormality	5096	PCCB	ORPHA:35
HP:0012759	Neurodevelopmental abnormality	27125	AFF4	ORPHA:444077
HP:0012759	Neurodevelopmental abnormality	27125	AFF4	OMIM:616368
HP:0012759	Neurodevelopmental abnormality	10733	PLK4	OMIM:616171
HP:0012759	Neurodevelopmental abnormality	10733	PLK4	ORPHA:808
HP:0012759	Neurodevelopmental abnormality	10733	PLK4	ORPHA:2518
HP:0012759	Neurodevelopmental abnormality	3712	IVD	ORPHA:33
HP:0012759	Neurodevelopmental abnormality	57104	PNPLA2	ORPHA:565612
HP:0012759	Neurodevelopmental abnormality	5610	EIF2AK2	OMIM:619687
HP:0012759	Neurodevelopmental abnormality	55182	RNF220	OMIM:619688
HP:0012759	Neurodevelopmental abnormality	116461	TSEN15	OMIM:617026
HP:0012759	Neurodevelopmental abnormality	55262	TRAPPC14	OMIM:618351
HP:0012759	Neurodevelopmental abnormality	23043	TNIK	OMIM:617028
HP:0012759	Neurodevelopmental abnormality	6492	SIM1	ORPHA:398079
HP:0012759	Neurodevelopmental abnormality	25885	POLR1A	OMIM:620675
HP:0012759	Neurodevelopmental abnormality	25885	POLR1A	OMIM:616462
HP:0012759	Neurodevelopmental abnormality	51114	ZDHHC9	ORPHA:776
HP:0012759	Neurodevelopmental abnormality	51114	ZDHHC9	OMIM:300799
HP:0012759	Neurodevelopmental abnormality	65109	UPF3B	ORPHA:776
HP:0012759	Neurodevelopmental abnormality	65109	UPF3B	OMIM:300676
HP:0012759	Neurodevelopmental abnormality	9968	MED12	ORPHA:776
HP:0012759	Neurodevelopmental abnormality	9968	MED12	OMIM:309520
HP:0012759	Neurodevelopmental abnormality	9968	MED12	OMIM:300895
HP:0012759	Neurodevelopmental abnormality	9968	MED12	ORPHA:293707
HP:0012759	Neurodevelopmental abnormality	9968	MED12	OMIM:305450
HP:0012759	Neurodevelopmental abnormality	6774	STAT3	ORPHA:99885
HP:0012759	Neurodevelopmental abnormality	2645	GCK	ORPHA:99885
HP:0012759	Neurodevelopmental abnormality	2645	GCK	OMIM:602485
HP:0012759	Neurodevelopmental abnormality	3651	PDX1	ORPHA:99885
HP:0012759	Neurodevelopmental abnormality	3630	INS	ORPHA:99885
HP:0012759	Neurodevelopmental abnormality	154881	KCTD7	OMIM:611726
HP:0012759	Neurodevelopmental abnormality	154881	KCTD7	ORPHA:263516
HP:0012759	Neurodevelopmental abnormality	29925	GMPPB	ORPHA:370968
HP:0012759	Neurodevelopmental abnormality	29925	GMPPB	ORPHA:363623
HP:0012759	Neurodevelopmental abnormality	29925	GMPPB	OMIM:615350
HP:0012759	Neurodevelopmental abnormality	29925	GMPPB	OMIM:615351
HP:0012759	Neurodevelopmental abnormality	79147	FKRP	ORPHA:370968
HP:0012759	Neurodevelopmental abnormality	79147	FKRP	ORPHA:370980
HP:0012759	Neurodevelopmental abnormality	79147	FKRP	OMIM:606612
HP:0012759	Neurodevelopmental abnormality	79147	FKRP	ORPHA:899
HP:0012759	Neurodevelopmental abnormality	29954	POMT2	ORPHA:370968
HP:0012759	Neurodevelopmental abnormality	29954	POMT2	ORPHA:899
HP:0012759	Neurodevelopmental abnormality	9215	LARGE1	ORPHA:370968
HP:0012759	Neurodevelopmental abnormality	9215	LARGE1	ORPHA:899
HP:0012759	Neurodevelopmental abnormality	9215	LARGE1	OMIM:613154
HP:0012759	Neurodevelopmental abnormality	10585	POMT1	ORPHA:370968
HP:0012759	Neurodevelopmental abnormality	10585	POMT1	ORPHA:370980
HP:0012759	Neurodevelopmental abnormality	10585	POMT1	OMIM:609308
HP:0012759	Neurodevelopmental abnormality	10585	POMT1	ORPHA:899
HP:0012759	Neurodevelopmental abnormality	10585	POMT1	ORPHA:86812
HP:0012759	Neurodevelopmental abnormality	427	ASAH1	ORPHA:333
HP:0012759	Neurodevelopmental abnormality	427	ASAH1	ORPHA:2590
HP:0012759	Neurodevelopmental abnormality	427	ASAH1	OMIM:228000
HP:0012759	Neurodevelopmental abnormality	57190	SELENON	OMIM:602771
HP:0012759	Neurodevelopmental abnormality	473	RERE	ORPHA:494344
HP:0012759	Neurodevelopmental abnormality	473	RERE	ORPHA:1606
HP:0012759	Neurodevelopmental abnormality	55777	MBD5	OMIM:156200
HP:0012759	Neurodevelopmental abnormality	22930	RAB3GAP1	OMIM:600118
HP:0012759	Neurodevelopmental abnormality	22930	RAB3GAP1	ORPHA:1387
HP:0012759	Neurodevelopmental abnormality	2334	AFF2	OMIM:309548
HP:0012759	Neurodevelopmental abnormality	2334	AFF2	ORPHA:100973
HP:0012759	Neurodevelopmental abnormality	4141	MARS1	OMIM:619692
HP:0012759	Neurodevelopmental abnormality	24140	FTSJ1	OMIM:309549
HP:0012759	Neurodevelopmental abnormality	6601	SMARCC2	OMIM:618362
HP:0012759	Neurodevelopmental abnormality	7468	NSD2	OMIM:619695
HP:0012759	Neurodevelopmental abnormality	6334	SCN8A	OMIM:618364
HP:0012759	Neurodevelopmental abnormality	6334	SCN8A	OMIM:614306
HP:0012759	Neurodevelopmental abnormality	6334	SCN8A	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	6334	SCN8A	OMIM:614558
HP:0012759	Neurodevelopmental abnormality	3054	HCFC1	OMIM:309541
HP:0012759	Neurodevelopmental abnormality	11145	PLAAT3	OMIM:620683
HP:0012759	Neurodevelopmental abnormality	2632	GBE1	ORPHA:206583
HP:0012759	Neurodevelopmental abnormality	5805	PTS	ORPHA:13
HP:0012759	Neurodevelopmental abnormality	2583	B4GALNT1	ORPHA:101006
HP:0012759	Neurodevelopmental abnormality	7703	PCGF2	OMIM:618371
HP:0012759	Neurodevelopmental abnormality	56776	FMN2	OMIM:616193
HP:0012759	Neurodevelopmental abnormality	2743	GLRB	ORPHA:3197
HP:0012759	Neurodevelopmental abnormality	2743	GLRB	OMIM:614619
HP:0012759	Neurodevelopmental abnormality	2741	GLRA1	ORPHA:3197
HP:0012759	Neurodevelopmental abnormality	10243	GPHN	ORPHA:3197
HP:0012759	Neurodevelopmental abnormality	84896	ATAD1	ORPHA:3197
HP:0012759	Neurodevelopmental abnormality	9152	SLC6A5	ORPHA:3197
HP:0012759	Neurodevelopmental abnormality	27316	RBMX	OMIM:309555
HP:0012759	Neurodevelopmental abnormality	7086	TKT	OMIM:617044
HP:0012759	Neurodevelopmental abnormality	8802	SUCLG1	ORPHA:17
HP:0012759	Neurodevelopmental abnormality	4613	MYCN	OMIM:164280
HP:0012759	Neurodevelopmental abnormality	4613	MYCN	ORPHA:391641
HP:0012759	Neurodevelopmental abnormality	4613	MYCN	OMIM:620748
HP:0012759	Neurodevelopmental abnormality	6304	SATB1	OMIM:619228
HP:0012759	Neurodevelopmental abnormality	6304	SATB1	OMIM:619229
HP:0012759	Neurodevelopmental abnormality	2218	FKTN	ORPHA:370980
HP:0012759	Neurodevelopmental abnormality	2218	FKTN	OMIM:253800
HP:0012759	Neurodevelopmental abnormality	2218	FKTN	ORPHA:899
HP:0012759	Neurodevelopmental abnormality	729920	CRPPA	ORPHA:370980
HP:0012759	Neurodevelopmental abnormality	729920	CRPPA	ORPHA:899
HP:0012759	Neurodevelopmental abnormality	2707	GJB3	ORPHA:317
HP:0012759	Neurodevelopmental abnormality	2531	KDSR	ORPHA:317
HP:0012759	Neurodevelopmental abnormality	127534	GJB4	ORPHA:317
HP:0012759	Neurodevelopmental abnormality	220296	HEPACAM	OMIM:613925
HP:0012759	Neurodevelopmental abnormality	220296	HEPACAM	OMIM:613926
HP:0012759	Neurodevelopmental abnormality	220296	HEPACAM	ORPHA:210548
HP:0012759	Neurodevelopmental abnormality	4763	NF1	ORPHA:97685
HP:0012759	Neurodevelopmental abnormality	4763	NF1	OMIM:601321
HP:0012759	Neurodevelopmental abnormality	4763	NF1	ORPHA:139474
HP:0012759	Neurodevelopmental abnormality	4763	NF1	ORPHA:363700
HP:0012759	Neurodevelopmental abnormality	50801	KCNK4	OMIM:618381
HP:0012759	Neurodevelopmental abnormality	9757	KMT2B	ORPHA:589618
HP:0012759	Neurodevelopmental abnormality	9757	KMT2B	OMIM:619934
HP:0012759	Neurodevelopmental abnormality	55975	KLHL7	OMIM:617055
HP:0012759	Neurodevelopmental abnormality	80036	TRPM3	OMIM:620224
HP:0012759	Neurodevelopmental abnormality	63895	PIEZO2	OMIM:108145
HP:0012759	Neurodevelopmental abnormality	63895	PIEZO2	OMIM:248700
HP:0012759	Neurodevelopmental abnormality	63895	PIEZO2	ORPHA:2461
HP:0012759	Neurodevelopmental abnormality	5184	PEPD	ORPHA:742
HP:0012759	Neurodevelopmental abnormality	10283	CWC27	ORPHA:166035
HP:0012759	Neurodevelopmental abnormality	10283	CWC27	OMIM:250410
HP:0012759	Neurodevelopmental abnormality	207	AKT1	ORPHA:744
HP:0012759	Neurodevelopmental abnormality	207	AKT1	ORPHA:201
HP:0012759	Neurodevelopmental abnormality	207	AKT1	OMIM:615109
HP:0012759	Neurodevelopmental abnormality	9829	DNAJC6	ORPHA:391411
HP:0012759	Neurodevelopmental abnormality	9829	DNAJC6	OMIM:615528
HP:0012759	Neurodevelopmental abnormality	5420	PODXL	ORPHA:391411
HP:0012759	Neurodevelopmental abnormality	8867	SYNJ1	ORPHA:391411
HP:0012759	Neurodevelopmental abnormality	8867	SYNJ1	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	51360	MBTPS2	OMIM:308205
HP:0012759	Neurodevelopmental abnormality	51360	MBTPS2	ORPHA:2273
HP:0012759	Neurodevelopmental abnormality	1457	CSNK2A1	OMIM:617062
HP:0012759	Neurodevelopmental abnormality	7204	TRIO	OMIM:617061
HP:0012759	Neurodevelopmental abnormality	7204	TRIO	OMIM:618825
HP:0012759	Neurodevelopmental abnormality	170302	ARX	ORPHA:3175
HP:0012759	Neurodevelopmental abnormality	170302	ARX	OMIM:309510
HP:0012759	Neurodevelopmental abnormality	170302	ARX	ORPHA:1934
HP:0012759	Neurodevelopmental abnormality	170302	ARX	OMIM:308350
HP:0012759	Neurodevelopmental abnormality	170302	ARX	OMIM:300419
HP:0012759	Neurodevelopmental abnormality	170302	ARX	ORPHA:94083
HP:0012759	Neurodevelopmental abnormality	170302	ARX	ORPHA:452
HP:0012759	Neurodevelopmental abnormality	203068	TUBB	OMIM:156610
HP:0012759	Neurodevelopmental abnormality	203068	TUBB	ORPHA:2505
HP:0012759	Neurodevelopmental abnormality	23112	TNRC6B	OMIM:619243
HP:0012759	Neurodevelopmental abnormality	91875	TTC5	OMIM:619244
HP:0012759	Neurodevelopmental abnormality	28514	DLL1	ORPHA:280195
HP:0012759	Neurodevelopmental abnormality	28514	DLL1	OMIM:618709
HP:0012759	Neurodevelopmental abnormality	28514	DLL1	ORPHA:220386
HP:0012759	Neurodevelopmental abnormality	28514	DLL1	ORPHA:280200
HP:0012759	Neurodevelopmental abnormality	28514	DLL1	ORPHA:93926
HP:0012759	Neurodevelopmental abnormality	28514	DLL1	ORPHA:93924
HP:0012759	Neurodevelopmental abnormality	28514	DLL1	ORPHA:93925
HP:0012759	Neurodevelopmental abnormality	2253	FGF8	ORPHA:280195
HP:0012759	Neurodevelopmental abnormality	2253	FGF8	ORPHA:220386
HP:0012759	Neurodevelopmental abnormality	2253	FGF8	ORPHA:280200
HP:0012759	Neurodevelopmental abnormality	2253	FGF8	ORPHA:93926
HP:0012759	Neurodevelopmental abnormality	2253	FGF8	ORPHA:93924
HP:0012759	Neurodevelopmental abnormality	2253	FGF8	ORPHA:93925
HP:0012759	Neurodevelopmental abnormality	6496	SIX3	ORPHA:280195
HP:0012759	Neurodevelopmental abnormality	6496	SIX3	ORPHA:220386
HP:0012759	Neurodevelopmental abnormality	6496	SIX3	OMIM:157170
HP:0012759	Neurodevelopmental abnormality	6496	SIX3	ORPHA:280200
HP:0012759	Neurodevelopmental abnormality	6496	SIX3	ORPHA:93926
HP:0012759	Neurodevelopmental abnormality	6496	SIX3	ORPHA:93924
HP:0012759	Neurodevelopmental abnormality	6496	SIX3	ORPHA:93925
HP:0012759	Neurodevelopmental abnormality	7050	TGIF1	ORPHA:280195
HP:0012759	Neurodevelopmental abnormality	7050	TGIF1	ORPHA:220386
HP:0012759	Neurodevelopmental abnormality	7050	TGIF1	ORPHA:280200
HP:0012759	Neurodevelopmental abnormality	7050	TGIF1	ORPHA:93926
HP:0012759	Neurodevelopmental abnormality	7050	TGIF1	ORPHA:93924
HP:0012759	Neurodevelopmental abnormality	7050	TGIF1	ORPHA:93925
HP:0012759	Neurodevelopmental abnormality	4838	NODAL	ORPHA:280195
HP:0012759	Neurodevelopmental abnormality	4838	NODAL	ORPHA:220386
HP:0012759	Neurodevelopmental abnormality	4838	NODAL	ORPHA:280200
HP:0012759	Neurodevelopmental abnormality	4838	NODAL	ORPHA:93926
HP:0012759	Neurodevelopmental abnormality	4838	NODAL	ORPHA:93924
HP:0012759	Neurodevelopmental abnormality	4838	NODAL	ORPHA:93925
HP:0012759	Neurodevelopmental abnormality	6469	SHH	ORPHA:280195
HP:0012759	Neurodevelopmental abnormality	6469	SHH	OMIM:142945
HP:0012759	Neurodevelopmental abnormality	6469	SHH	ORPHA:220386
HP:0012759	Neurodevelopmental abnormality	6469	SHH	ORPHA:280200
HP:0012759	Neurodevelopmental abnormality	6469	SHH	ORPHA:93926
HP:0012759	Neurodevelopmental abnormality	6469	SHH	ORPHA:93924
HP:0012759	Neurodevelopmental abnormality	6469	SHH	ORPHA:93925
HP:0012759	Neurodevelopmental abnormality	7546	ZIC2	ORPHA:280195
HP:0012759	Neurodevelopmental abnormality	7546	ZIC2	ORPHA:220386
HP:0012759	Neurodevelopmental abnormality	7546	ZIC2	ORPHA:280200
HP:0012759	Neurodevelopmental abnormality	7546	ZIC2	ORPHA:93926
HP:0012759	Neurodevelopmental abnormality	7546	ZIC2	ORPHA:93924
HP:0012759	Neurodevelopmental abnormality	7546	ZIC2	ORPHA:93925
HP:0012759	Neurodevelopmental abnormality	7546	ZIC2	OMIM:609637
HP:0012759	Neurodevelopmental abnormality	6491	STIL	ORPHA:280195
HP:0012759	Neurodevelopmental abnormality	6491	STIL	ORPHA:220386
HP:0012759	Neurodevelopmental abnormality	6491	STIL	ORPHA:93926
HP:0012759	Neurodevelopmental abnormality	6491	STIL	ORPHA:93924
HP:0012759	Neurodevelopmental abnormality	6491	STIL	ORPHA:93925
HP:0012759	Neurodevelopmental abnormality	6491	STIL	OMIM:612703
HP:0012759	Neurodevelopmental abnormality	2619	GAS1	ORPHA:280195
HP:0012759	Neurodevelopmental abnormality	2619	GAS1	ORPHA:220386
HP:0012759	Neurodevelopmental abnormality	2619	GAS1	ORPHA:280200
HP:0012759	Neurodevelopmental abnormality	2619	GAS1	ORPHA:93926
HP:0012759	Neurodevelopmental abnormality	2619	GAS1	ORPHA:93924
HP:0012759	Neurodevelopmental abnormality	2619	GAS1	ORPHA:93925
HP:0012759	Neurodevelopmental abnormality	84976	DISP1	ORPHA:280195
HP:0012759	Neurodevelopmental abnormality	84976	DISP1	ORPHA:220386
HP:0012759	Neurodevelopmental abnormality	84976	DISP1	ORPHA:280200
HP:0012759	Neurodevelopmental abnormality	84976	DISP1	ORPHA:93926
HP:0012759	Neurodevelopmental abnormality	84976	DISP1	ORPHA:93924
HP:0012759	Neurodevelopmental abnormality	84976	DISP1	ORPHA:93925
HP:0012759	Neurodevelopmental abnormality	2736	GLI2	ORPHA:280195
HP:0012759	Neurodevelopmental abnormality	2736	GLI2	ORPHA:220386
HP:0012759	Neurodevelopmental abnormality	2736	GLI2	ORPHA:280200
HP:0012759	Neurodevelopmental abnormality	2736	GLI2	ORPHA:93926
HP:0012759	Neurodevelopmental abnormality	2736	GLI2	ORPHA:93924
HP:0012759	Neurodevelopmental abnormality	2736	GLI2	ORPHA:93925
HP:0012759	Neurodevelopmental abnormality	8928	FOXH1	ORPHA:280195
HP:0012759	Neurodevelopmental abnormality	8928	FOXH1	ORPHA:220386
HP:0012759	Neurodevelopmental abnormality	8928	FOXH1	ORPHA:280200
HP:0012759	Neurodevelopmental abnormality	8928	FOXH1	ORPHA:93926
HP:0012759	Neurodevelopmental abnormality	8928	FOXH1	ORPHA:93924
HP:0012759	Neurodevelopmental abnormality	8928	FOXH1	ORPHA:93925
HP:0012759	Neurodevelopmental abnormality	6997	CRIPTO	ORPHA:280195
HP:0012759	Neurodevelopmental abnormality	6997	CRIPTO	ORPHA:220386
HP:0012759	Neurodevelopmental abnormality	6997	CRIPTO	ORPHA:280200
HP:0012759	Neurodevelopmental abnormality	6997	CRIPTO	ORPHA:93926
HP:0012759	Neurodevelopmental abnormality	6997	CRIPTO	ORPHA:93924
HP:0012759	Neurodevelopmental abnormality	6997	CRIPTO	ORPHA:93925
HP:0012759	Neurodevelopmental abnormality	50937	CDON	ORPHA:280195
HP:0012759	Neurodevelopmental abnormality	50937	CDON	ORPHA:95496
HP:0012759	Neurodevelopmental abnormality	50937	CDON	ORPHA:220386
HP:0012759	Neurodevelopmental abnormality	50937	CDON	ORPHA:280200
HP:0012759	Neurodevelopmental abnormality	50937	CDON	ORPHA:93926
HP:0012759	Neurodevelopmental abnormality	50937	CDON	ORPHA:93924
HP:0012759	Neurodevelopmental abnormality	50937	CDON	ORPHA:93925
HP:0012759	Neurodevelopmental abnormality	3028	HSD17B10	ORPHA:85295
HP:0012759	Neurodevelopmental abnormality	3028	HSD17B10	OMIM:300438
HP:0012759	Neurodevelopmental abnormality	23096	IQSEC2	OMIM:309530
HP:0012759	Neurodevelopmental abnormality	23096	IQSEC2	ORPHA:819
HP:0012759	Neurodevelopmental abnormality	23096	IQSEC2	ORPHA:217377
HP:0012759	Neurodevelopmental abnormality	5625	PRODH	OMIM:239500
HP:0012759	Neurodevelopmental abnormality	93587	TRMT10A	ORPHA:391408
HP:0012759	Neurodevelopmental abnormality	93587	TRMT10A	OMIM:616033
HP:0012759	Neurodevelopmental abnormality	84919	PPP1R15B	ORPHA:391408
HP:0012759	Neurodevelopmental abnormality	84919	PPP1R15B	OMIM:616817
HP:0012759	Neurodevelopmental abnormality	2799	GNS	OMIM:252940
HP:0012759	Neurodevelopmental abnormality	7169	TPM2	OMIM:108120
HP:0012759	Neurodevelopmental abnormality	201595	STT3B	ORPHA:370924
HP:0012759	Neurodevelopmental abnormality	201595	STT3B	OMIM:615597
HP:0012759	Neurodevelopmental abnormality	6748	SSR4	ORPHA:370927
HP:0012759	Neurodevelopmental abnormality	6748	SSR4	OMIM:300934
HP:0012759	Neurodevelopmental abnormality	10084	PQBP1	OMIM:309500
HP:0012759	Neurodevelopmental abnormality	10084	PQBP1	ORPHA:93946
HP:0012759	Neurodevelopmental abnormality	10084	PQBP1	ORPHA:93947
HP:0012759	Neurodevelopmental abnormality	340533	NEXMIF	ORPHA:85277
HP:0012759	Neurodevelopmental abnormality	340533	NEXMIF	ORPHA:1942
HP:0012759	Neurodevelopmental abnormality	340533	NEXMIF	OMIM:300912
HP:0012759	Neurodevelopmental abnormality	89970	RSPRY1	ORPHA:457395
HP:0012759	Neurodevelopmental abnormality	89970	RSPRY1	OMIM:616723
HP:0012759	Neurodevelopmental abnormality	85358	SHANK3	OMIM:613950
HP:0012759	Neurodevelopmental abnormality	8831	SYNGAP1	OMIM:612621
HP:0012759	Neurodevelopmental abnormality	8831	SYNGAP1	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	8831	SYNGAP1	ORPHA:1942
HP:0012759	Neurodevelopmental abnormality	8831	SYNGAP1	ORPHA:544254
HP:0012759	Neurodevelopmental abnormality	54187	NANS	OMIM:610442
HP:0012759	Neurodevelopmental abnormality	84466	MEGF10	OMIM:620249
HP:0012759	Neurodevelopmental abnormality	1282	COL4A1	OMIM:611773
HP:0012759	Neurodevelopmental abnormality	1282	COL4A1	OMIM:175780
HP:0012759	Neurodevelopmental abnormality	1282	COL4A1	ORPHA:899
HP:0012759	Neurodevelopmental abnormality	284058	KANSL1	OMIM:610443
HP:0012759	Neurodevelopmental abnormality	3643	INSR	ORPHA:769
HP:0012759	Neurodevelopmental abnormality	3643	INSR	ORPHA:508
HP:0012759	Neurodevelopmental abnormality	138050	HGSNAT	OMIM:252930
HP:0012759	Neurodevelopmental abnormality	7474	WNT5A	OMIM:180700
HP:0012759	Neurodevelopmental abnormality	7474	WNT5A	ORPHA:3107
HP:0012759	Neurodevelopmental abnormality	1855	DVL1	OMIM:180700
HP:0012759	Neurodevelopmental abnormality	1855	DVL1	ORPHA:3107
HP:0012759	Neurodevelopmental abnormality	124093	CCDC78	OMIM:614807
HP:0012759	Neurodevelopmental abnormality	4860	PNP	ORPHA:760
HP:0012759	Neurodevelopmental abnormality	4860	PNP	OMIM:613179
HP:0012759	Neurodevelopmental abnormality	162	AP1B1	ORPHA:171851
HP:0012759	Neurodevelopmental abnormality	162	AP1B1	OMIM:242150
HP:0012759	Neurodevelopmental abnormality	1174	AP1S1	ORPHA:171851
HP:0012759	Neurodevelopmental abnormality	1174	AP1S1	OMIM:609313
HP:0012759	Neurodevelopmental abnormality	1291	COL6A1	OMIM:158810
HP:0012759	Neurodevelopmental abnormality	1291	COL6A1	OMIM:254090
HP:0012759	Neurodevelopmental abnormality	26123	TCTN3	OMIM:614815
HP:0012759	Neurodevelopmental abnormality	26123	TCTN3	ORPHA:2753
HP:0012759	Neurodevelopmental abnormality	26123	TCTN3	ORPHA:2754
HP:0012759	Neurodevelopmental abnormality	26123	TCTN3	ORPHA:475
HP:0012759	Neurodevelopmental abnormality	1373	CPS1	OMIM:237300
HP:0012759	Neurodevelopmental abnormality	5696	PSMB8	OMIM:256040
HP:0012759	Neurodevelopmental abnormality	4669	NAGLU	OMIM:252920
HP:0012759	Neurodevelopmental abnormality	128674	PROKR2	ORPHA:3157
HP:0012759	Neurodevelopmental abnormality	128674	PROKR2	ORPHA:95496
HP:0012759	Neurodevelopmental abnormality	6657	SOX2	ORPHA:3157
HP:0012759	Neurodevelopmental abnormality	6657	SOX2	ORPHA:77298
HP:0012759	Neurodevelopmental abnormality	6658	SOX3	ORPHA:3157
HP:0012759	Neurodevelopmental abnormality	6658	SOX3	ORPHA:67045
HP:0012759	Neurodevelopmental abnormality	9915	ARNT2	ORPHA:3157
HP:0012759	Neurodevelopmental abnormality	8820	HESX1	ORPHA:3157
HP:0012759	Neurodevelopmental abnormality	8820	HESX1	ORPHA:95496
HP:0012759	Neurodevelopmental abnormality	5015	OTX2	ORPHA:3157
HP:0012759	Neurodevelopmental abnormality	283450	HECTD4	OMIM:620250
HP:0012759	Neurodevelopmental abnormality	374654	KIF7	ORPHA:166024
HP:0012759	Neurodevelopmental abnormality	374654	KIF7	ORPHA:2754
HP:0012759	Neurodevelopmental abnormality	374654	KIF7	OMIM:200990
HP:0012759	Neurodevelopmental abnormality	128	ADH5	OMIM:619151
HP:0012759	Neurodevelopmental abnormality	64374	SIL1	OMIM:248800
HP:0012759	Neurodevelopmental abnormality	64374	SIL1	ORPHA:559
HP:0012759	Neurodevelopmental abnormality	8450	CUL4B	OMIM:300354
HP:0012759	Neurodevelopmental abnormality	6535	SLC6A8	OMIM:300352
HP:0012759	Neurodevelopmental abnormality	6535	SLC6A8	ORPHA:52503
HP:0012759	Neurodevelopmental abnormality	26128	KIFBP	OMIM:609460
HP:0012759	Neurodevelopmental abnormality	26128	KIFBP	ORPHA:66629
HP:0012759	Neurodevelopmental abnormality	1593	CYP27A1	OMIM:213700
HP:0012759	Neurodevelopmental abnormality	1593	CYP27A1	ORPHA:909
HP:0012759	Neurodevelopmental abnormality	7518	XRCC4	ORPHA:99812
HP:0012759	Neurodevelopmental abnormality	3981	LIG4	ORPHA:99812
HP:0012759	Neurodevelopmental abnormality	3981	LIG4	ORPHA:235
HP:0012759	Neurodevelopmental abnormality	55775	TDP1	ORPHA:94124
HP:0012759	Neurodevelopmental abnormality	55775	TDP1	OMIM:607250
HP:0012759	Neurodevelopmental abnormality	80144	FRAS1	OMIM:219000
HP:0012759	Neurodevelopmental abnormality	80144	FRAS1	ORPHA:2052
HP:0012759	Neurodevelopmental abnormality	613	BCR	ORPHA:261330
HP:0012759	Neurodevelopmental abnormality	1399	CRKL	ORPHA:261330
HP:0012759	Neurodevelopmental abnormality	5594	MAPK1	ORPHA:261330
HP:0012759	Neurodevelopmental abnormality	5594	MAPK1	OMIM:619087
HP:0012759	Neurodevelopmental abnormality	9640	ZNF592	ORPHA:83472
HP:0012759	Neurodevelopmental abnormality	84942	WDR73	ORPHA:83472
HP:0012759	Neurodevelopmental abnormality	84942	WDR73	OMIM:251300
HP:0012759	Neurodevelopmental abnormality	224	ALDH3A2	ORPHA:816
HP:0012759	Neurodevelopmental abnormality	224	ALDH3A2	OMIM:270200
HP:0012759	Neurodevelopmental abnormality	2314	FLII	ORPHA:819
HP:0012759	Neurodevelopmental abnormality	10743	RAI1	ORPHA:819
HP:0012759	Neurodevelopmental abnormality	10743	RAI1	OMIM:182290
HP:0012759	Neurodevelopmental abnormality	10522	DEAF1	ORPHA:819
HP:0012759	Neurodevelopmental abnormality	10522	DEAF1	OMIM:615828
HP:0012759	Neurodevelopmental abnormality	10522	DEAF1	ORPHA:468620
HP:0012759	Neurodevelopmental abnormality	10522	DEAF1	OMIM:617171
HP:0012759	Neurodevelopmental abnormality	1717	DHCR7	ORPHA:818
HP:0012759	Neurodevelopmental abnormality	1717	DHCR7	OMIM:270400
HP:0012759	Neurodevelopmental abnormality	5818	NECTIN1	ORPHA:3253
HP:0012759	Neurodevelopmental abnormality	29072	SETD2	OMIM:620157
HP:0012759	Neurodevelopmental abnormality	29072	SETD2	OMIM:620155
HP:0012759	Neurodevelopmental abnormality	29072	SETD2	OMIM:616831
HP:0012759	Neurodevelopmental abnormality	4758	NEU1	ORPHA:812
HP:0012759	Neurodevelopmental abnormality	4758	NEU1	OMIM:256550
HP:0012759	Neurodevelopmental abnormality	150468	CKAP2L	ORPHA:3255
HP:0012759	Neurodevelopmental abnormality	150468	CKAP2L	OMIM:272440
HP:0012759	Neurodevelopmental abnormality	5979	RET	ORPHA:99803
HP:0012759	Neurodevelopmental abnormality	429	ASCL1	ORPHA:99803
HP:0012759	Neurodevelopmental abnormality	8929	PHOX2B	ORPHA:99803
HP:0012759	Neurodevelopmental abnormality	134218	DNAJC21	ORPHA:811
HP:0012759	Neurodevelopmental abnormality	79631	EFL1	ORPHA:811
HP:0012759	Neurodevelopmental abnormality	51119	SBDS	ORPHA:811
HP:0012759	Neurodevelopmental abnormality	2313	FLI1	ORPHA:851
HP:0012759	Neurodevelopmental abnormality	2313	FLI1	ORPHA:2308
HP:0012759	Neurodevelopmental abnormality	2263	FGFR2	ORPHA:87
HP:0012759	Neurodevelopmental abnormality	2263	FGFR2	ORPHA:93260
HP:0012759	Neurodevelopmental abnormality	2263	FGFR2	ORPHA:93259
HP:0012759	Neurodevelopmental abnormality	2263	FGFR2	OMIM:207410
HP:0012759	Neurodevelopmental abnormality	2263	FGFR2	OMIM:101400
HP:0012759	Neurodevelopmental abnormality	2263	FGFR2	OMIM:123500
HP:0012759	Neurodevelopmental abnormality	2263	FGFR2	OMIM:101200
HP:0012759	Neurodevelopmental abnormality	2263	FGFR2	OMIM:101600
HP:0012759	Neurodevelopmental abnormality	2263	FGFR2	OMIM:609579
HP:0012759	Neurodevelopmental abnormality	56992	KIF15	ORPHA:261323
HP:0012759	Neurodevelopmental abnormality	2483	FRG1	OMIM:158900
HP:0012759	Neurodevelopmental abnormality	64324	NSD1	OMIM:117550
HP:0012759	Neurodevelopmental abnormality	64324	NSD1	ORPHA:3447
HP:0012759	Neurodevelopmental abnormality	64324	NSD1	ORPHA:228415
HP:0012759	Neurodevelopmental abnormality	55157	DARS2	ORPHA:137898
HP:0012759	Neurodevelopmental abnormality	1801	DPH1	OMIM:616901
HP:0012759	Neurodevelopmental abnormality	412	STS	ORPHA:281090
HP:0012759	Neurodevelopmental abnormality	412	STS	ORPHA:461
HP:0012759	Neurodevelopmental abnormality	412	STS	OMIM:308100
HP:0012759	Neurodevelopmental abnormality	5080	PAX6	ORPHA:1065
HP:0012759	Neurodevelopmental abnormality	5080	PAX6	OMIM:194072
HP:0012759	Neurodevelopmental abnormality	5080	PAX6	ORPHA:893
HP:0012759	Neurodevelopmental abnormality	3708	ITPR1	ORPHA:1065
HP:0012759	Neurodevelopmental abnormality	3708	ITPR1	OMIM:606658
HP:0012759	Neurodevelopmental abnormality	3708	ITPR1	OMIM:117360
HP:0012759	Neurodevelopmental abnormality	3708	ITPR1	OMIM:206700
HP:0012759	Neurodevelopmental abnormality	80254	CEP63	OMIM:614728
HP:0012759	Neurodevelopmental abnormality	64087	MCCC2	OMIM:210210
HP:0012759	Neurodevelopmental abnormality	672	BRCA1	ORPHA:84
HP:0012759	Neurodevelopmental abnormality	672	BRCA1	OMIM:617883
HP:0012759	Neurodevelopmental abnormality	10459	MAD2L2	ORPHA:84
HP:0012759	Neurodevelopmental abnormality	7516	XRCC2	ORPHA:84
HP:0012759	Neurodevelopmental abnormality	29089	UBE2T	ORPHA:84
HP:0012759	Neurodevelopmental abnormality	675	BRCA2	ORPHA:84
HP:0012759	Neurodevelopmental abnormality	55120	FANCL	ORPHA:84
HP:0012759	Neurodevelopmental abnormality	2177	FANCD2	ORPHA:84
HP:0012759	Neurodevelopmental abnormality	2177	FANCD2	OMIM:227646
HP:0012759	Neurodevelopmental abnormality	2175	FANCA	ORPHA:84
HP:0012759	Neurodevelopmental abnormality	2175	FANCA	OMIM:227650
HP:0012759	Neurodevelopmental abnormality	2187	FANCB	ORPHA:84
HP:0012759	Neurodevelopmental abnormality	2187	FANCB	OMIM:300514
HP:0012759	Neurodevelopmental abnormality	2187	FANCB	ORPHA:3412
HP:0012759	Neurodevelopmental abnormality	2176	FANCC	ORPHA:84
HP:0012759	Neurodevelopmental abnormality	2176	FANCC	OMIM:227645
HP:0012759	Neurodevelopmental abnormality	2178	FANCE	ORPHA:84
HP:0012759	Neurodevelopmental abnormality	2178	FANCE	OMIM:600901
HP:0012759	Neurodevelopmental abnormality	2188	FANCF	ORPHA:84
HP:0012759	Neurodevelopmental abnormality	2189	FANCG	ORPHA:84
HP:0012759	Neurodevelopmental abnormality	5888	RAD51	ORPHA:84
HP:0012759	Neurodevelopmental abnormality	5888	RAD51	OMIM:617244
HP:0012759	Neurodevelopmental abnormality	5889	RAD51C	ORPHA:84
HP:0012759	Neurodevelopmental abnormality	55159	RFWD3	ORPHA:84
HP:0012759	Neurodevelopmental abnormality	83990	BRIP1	ORPHA:84
HP:0012759	Neurodevelopmental abnormality	57697	FANCM	ORPHA:84
HP:0012759	Neurodevelopmental abnormality	79728	PALB2	ORPHA:84
HP:0012759	Neurodevelopmental abnormality	84464	SLX4	ORPHA:84
HP:0012759	Neurodevelopmental abnormality	2072	ERCC4	ORPHA:84
HP:0012759	Neurodevelopmental abnormality	2072	ERCC4	ORPHA:90321
HP:0012759	Neurodevelopmental abnormality	2072	ERCC4	ORPHA:220295
HP:0012759	Neurodevelopmental abnormality	2072	ERCC4	OMIM:278760
HP:0012759	Neurodevelopmental abnormality	55215	FANCI	ORPHA:84
HP:0012759	Neurodevelopmental abnormality	546	ATRX	ORPHA:847
HP:0012759	Neurodevelopmental abnormality	546	ATRX	OMIM:301040
HP:0012759	Neurodevelopmental abnormality	10555	AGPAT2	OMIM:608594
HP:0012759	Neurodevelopmental abnormality	10555	AGPAT2	ORPHA:528
HP:0012759	Neurodevelopmental abnormality	222663	SCUBE3	OMIM:619184
HP:0012759	Neurodevelopmental abnormality	773	CACNA1A	ORPHA:97
HP:0012759	Neurodevelopmental abnormality	773	CACNA1A	ORPHA:2382
HP:0012759	Neurodevelopmental abnormality	773	CACNA1A	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	773	CACNA1A	ORPHA:569
HP:0012759	Neurodevelopmental abnormality	773	CACNA1A	ORPHA:2131
HP:0012759	Neurodevelopmental abnormality	773	CACNA1A	OMIM:617106
HP:0012759	Neurodevelopmental abnormality	9184	BUB3	ORPHA:1052
HP:0012759	Neurodevelopmental abnormality	699	BUB1	ORPHA:1052
HP:0012759	Neurodevelopmental abnormality	699	BUB1	OMIM:620183
HP:0012759	Neurodevelopmental abnormality	9702	CEP57	ORPHA:1052
HP:0012759	Neurodevelopmental abnormality	9702	CEP57	OMIM:614114
HP:0012759	Neurodevelopmental abnormality	9319	TRIP13	ORPHA:1052
HP:0012759	Neurodevelopmental abnormality	701	BUB1B	ORPHA:1052
HP:0012759	Neurodevelopmental abnormality	1759	DNM1	ORPHA:2382
HP:0012759	Neurodevelopmental abnormality	1759	DNM1	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	1759	DNM1	OMIM:616346
HP:0012759	Neurodevelopmental abnormality	2562	GABRB3	ORPHA:2382
HP:0012759	Neurodevelopmental abnormality	2562	GABRB3	ORPHA:64280
HP:0012759	Neurodevelopmental abnormality	2562	GABRB3	OMIM:617113
HP:0012759	Neurodevelopmental abnormality	5602	MAPK10	ORPHA:2382
HP:0012759	Neurodevelopmental abnormality	6323	SCN1A	ORPHA:2382
HP:0012759	Neurodevelopmental abnormality	6323	SCN1A	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	6323	SCN1A	ORPHA:1942
HP:0012759	Neurodevelopmental abnormality	6323	SCN1A	ORPHA:569
HP:0012759	Neurodevelopmental abnormality	23316	CUX2	ORPHA:2382
HP:0012759	Neurodevelopmental abnormality	23316	CUX2	OMIM:618141
HP:0012759	Neurodevelopmental abnormality	1106	CHD2	ORPHA:2382
HP:0012759	Neurodevelopmental abnormality	1106	CHD2	ORPHA:1942
HP:0012759	Neurodevelopmental abnormality	1106	CHD2	OMIM:615369
HP:0012759	Neurodevelopmental abnormality	6999	TDO2	OMIM:600627
HP:0012759	Neurodevelopmental abnormality	23036	ZNF292	OMIM:619188
HP:0012759	Neurodevelopmental abnormality	55148	UBR7	OMIM:619189
HP:0012759	Neurodevelopmental abnormality	84342	COG8	ORPHA:95428
HP:0012759	Neurodevelopmental abnormality	84342	COG8	OMIM:611182
HP:0012759	Neurodevelopmental abnormality	23545	ATP6V0A2	OMIM:278250
HP:0012759	Neurodevelopmental abnormality	23545	ATP6V0A2	OMIM:219200
HP:0012759	Neurodevelopmental abnormality	4915	NTRK2	OMIM:613886
HP:0012759	Neurodevelopmental abnormality	4915	NTRK2	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	56922	MCCC1	OMIM:210200
HP:0012759	Neurodevelopmental abnormality	3070	HELLS	OMIM:616911
HP:0012759	Neurodevelopmental abnormality	3070	HELLS	ORPHA:2268
HP:0012759	Neurodevelopmental abnormality	11160	ERLIN2	OMIM:611225
HP:0012759	Neurodevelopmental abnormality	11160	ERLIN2	OMIM:620512
HP:0012759	Neurodevelopmental abnormality	11160	ERLIN2	ORPHA:209951
HP:0012759	Neurodevelopmental abnormality	83879	CDCA7	OMIM:616910
HP:0012759	Neurodevelopmental abnormality	83879	CDCA7	ORPHA:2268
HP:0012759	Neurodevelopmental abnormality	25942	SIN3A	OMIM:613406
HP:0012759	Neurodevelopmental abnormality	25942	SIN3A	ORPHA:94065
HP:0012759	Neurodevelopmental abnormality	175	AGA	ORPHA:93
HP:0012759	Neurodevelopmental abnormality	175	AGA	OMIM:208400
HP:0012759	Neurodevelopmental abnormality	84947	SERAC1	OMIM:614739
HP:0012759	Neurodevelopmental abnormality	9653	HS2ST1	OMIM:619194
HP:0012759	Neurodevelopmental abnormality	3769	KCNJ13	ORPHA:65
HP:0012759	Neurodevelopmental abnormality	343035	RD3	ORPHA:65
HP:0012759	Neurodevelopmental abnormality	145226	RDH12	ORPHA:65
HP:0012759	Neurodevelopmental abnormality	1406	CRX	ORPHA:65
HP:0012759	Neurodevelopmental abnormality	64802	NMNAT1	ORPHA:65
HP:0012759	Neurodevelopmental abnormality	57096	RPGRIP1	ORPHA:65
HP:0012759	Neurodevelopmental abnormality	57096	RPGRIP1	OMIM:613826
HP:0012759	Neurodevelopmental abnormality	80184	CEP290	ORPHA:65
HP:0012759	Neurodevelopmental abnormality	80184	CEP290	ORPHA:2318
HP:0012759	Neurodevelopmental abnormality	80184	CEP290	OMIM:615991
HP:0012759	Neurodevelopmental abnormality	80184	CEP290	ORPHA:110
HP:0012759	Neurodevelopmental abnormality	80184	CEP290	OMIM:610188
HP:0012759	Neurodevelopmental abnormality	10383	TUBB4B	ORPHA:65
HP:0012759	Neurodevelopmental abnormality	9742	IFT140	ORPHA:65
HP:0012759	Neurodevelopmental abnormality	85015	USP45	ORPHA:65
HP:0012759	Neurodevelopmental abnormality	6121	RPE65	ORPHA:65
HP:0012759	Neurodevelopmental abnormality	6121	RPE65	OMIM:204100
HP:0012759	Neurodevelopmental abnormality	23418	CRB1	ORPHA:65
HP:0012759	Neurodevelopmental abnormality	5130	PCYT1A	ORPHA:65
HP:0012759	Neurodevelopmental abnormality	5130	PCYT1A	ORPHA:85167
HP:0012759	Neurodevelopmental abnormality	9657	IQCB1	ORPHA:65
HP:0012759	Neurodevelopmental abnormality	392255	GDF6	ORPHA:65
HP:0012759	Neurodevelopmental abnormality	23746	AIPL1	ORPHA:65
HP:0012759	Neurodevelopmental abnormality	9227	LRAT	ORPHA:65
HP:0012759	Neurodevelopmental abnormality	55812	SPATA7	ORPHA:65
HP:0012759	Neurodevelopmental abnormality	7287	TULP1	ORPHA:65
HP:0012759	Neurodevelopmental abnormality	167691	LCA5	ORPHA:65
HP:0012759	Neurodevelopmental abnormality	3614	IMPDH1	ORPHA:65
HP:0012759	Neurodevelopmental abnormality	7025	NR2F1	ORPHA:401777
HP:0012759	Neurodevelopmental abnormality	7025	NR2F1	OMIM:615722
HP:0012759	Neurodevelopmental abnormality	27286	SRPX2	ORPHA:163721
HP:0012759	Neurodevelopmental abnormality	27286	SRPX2	ORPHA:98889
HP:0012759	Neurodevelopmental abnormality	2903	GRIN2A	ORPHA:163721
HP:0012759	Neurodevelopmental abnormality	2903	GRIN2A	ORPHA:725
HP:0012759	Neurodevelopmental abnormality	2903	GRIN2A	OMIM:245570
HP:0012759	Neurodevelopmental abnormality	116442	RAB39B	ORPHA:2379
HP:0012759	Neurodevelopmental abnormality	116442	RAB39B	OMIM:300271
HP:0012759	Neurodevelopmental abnormality	64327	LMBR1	ORPHA:2378
HP:0012759	Neurodevelopmental abnormality	10908	PNPLA6	ORPHA:2377
HP:0012759	Neurodevelopmental abnormality	10908	PNPLA6	ORPHA:3363
HP:0012759	Neurodevelopmental abnormality	10908	PNPLA6	OMIM:275400
HP:0012759	Neurodevelopmental abnormality	10908	PNPLA6	OMIM:245800
HP:0012759	Neurodevelopmental abnormality	10846	PDE10A	OMIM:616922
HP:0012759	Neurodevelopmental abnormality	84720	PIGO	OMIM:614749
HP:0012759	Neurodevelopmental abnormality	84720	PIGO	ORPHA:247262
HP:0012759	Neurodevelopmental abnormality	5189	PEX1	ORPHA:3220
HP:0012759	Neurodevelopmental abnormality	5189	PEX1	OMIM:234580
HP:0012759	Neurodevelopmental abnormality	5190	PEX6	ORPHA:3220
HP:0012759	Neurodevelopmental abnormality	5190	PEX6	OMIM:614863
HP:0012759	Neurodevelopmental abnormality	23345	SYNE1	ORPHA:319332
HP:0012759	Neurodevelopmental abnormality	23345	SYNE1	ORPHA:88644
HP:0012759	Neurodevelopmental abnormality	23345	SYNE1	ORPHA:98853
HP:0012759	Neurodevelopmental abnormality	89884	LHX4	ORPHA:95496
HP:0012759	Neurodevelopmental abnormality	55717	WDR11	ORPHA:95496
HP:0012759	Neurodevelopmental abnormality	6091	ROBO1	ORPHA:95496
HP:0012759	Neurodevelopmental abnormality	6091	ROBO1	OMIM:620305
HP:0012759	Neurodevelopmental abnormality	23432	GPR161	ORPHA:95496
HP:0012759	Neurodevelopmental abnormality	11128	POLR3A	OMIM:264090
HP:0012759	Neurodevelopmental abnormality	80025	PANK2	OMIM:234200
HP:0012759	Neurodevelopmental abnormality	79759	ZNF668	OMIM:620194
HP:0012759	Neurodevelopmental abnormality	23503	ZFYVE26	OMIM:270700
HP:0012759	Neurodevelopmental abnormality	23503	ZFYVE26	ORPHA:100996
HP:0012759	Neurodevelopmental abnormality	283209	PGM2L1	OMIM:620191
HP:0012759	Neurodevelopmental abnormality	3251	HPRT1	OMIM:300322
HP:0012759	Neurodevelopmental abnormality	3251	HPRT1	ORPHA:79233
HP:0012759	Neurodevelopmental abnormality	8050	PDHX	OMIM:245349
HP:0012759	Neurodevelopmental abnormality	477	ATP1A2	OMIM:104290
HP:0012759	Neurodevelopmental abnormality	477	ATP1A2	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	477	ATP1A2	ORPHA:569
HP:0012759	Neurodevelopmental abnormality	477	ATP1A2	ORPHA:2131
HP:0012759	Neurodevelopmental abnormality	477	ATP1A2	OMIM:602481
HP:0012759	Neurodevelopmental abnormality	6473	SHOX	OMIM:249700
HP:0012759	Neurodevelopmental abnormality	23522	KAT6B	ORPHA:85201
HP:0012759	Neurodevelopmental abnormality	23522	KAT6B	ORPHA:3047
HP:0012759	Neurodevelopmental abnormality	4784	NFIX	OMIM:614753
HP:0012759	Neurodevelopmental abnormality	4784	NFIX	OMIM:602535
HP:0012759	Neurodevelopmental abnormality	4784	NFIX	ORPHA:561
HP:0012759	Neurodevelopmental abnormality	23261	CAMTA1	OMIM:614756
HP:0012759	Neurodevelopmental abnormality	54112	GPR88	OMIM:616939
HP:0012759	Neurodevelopmental abnormality	6605	SMARCE1	OMIM:616938
HP:0012759	Neurodevelopmental abnormality	158	ADSL	ORPHA:46
HP:0012759	Neurodevelopmental abnormality	158	ADSL	OMIM:103050
HP:0012759	Neurodevelopmental abnormality	51322	WAC	ORPHA:284169
HP:0012759	Neurodevelopmental abnormality	51322	WAC	ORPHA:466950
HP:0012759	Neurodevelopmental abnormality	9101	USP8	ORPHA:401795
HP:0012759	Neurodevelopmental abnormality	1013	CDH15	OMIM:612580
HP:0012759	Neurodevelopmental abnormality	6949	TCOF1	OMIM:154500
HP:0012759	Neurodevelopmental abnormality	6611	SMS	OMIM:309583
HP:0012759	Neurodevelopmental abnormality	3458	IFNG	ORPHA:805
HP:0012759	Neurodevelopmental abnormality	3458	IFNG	OMIM:613254
HP:0012759	Neurodevelopmental abnormality	7248	TSC1	ORPHA:805
HP:0012759	Neurodevelopmental abnormality	7248	TSC1	OMIM:191100
HP:0012759	Neurodevelopmental abnormality	7248	TSC1	OMIM:607341
HP:0012759	Neurodevelopmental abnormality	7249	TSC2	ORPHA:805
HP:0012759	Neurodevelopmental abnormality	7249	TSC2	OMIM:613254
HP:0012759	Neurodevelopmental abnormality	7249	TSC2	OMIM:607341
HP:0012759	Neurodevelopmental abnormality	81887	LAS1L	OMIM:309585
HP:0012759	Neurodevelopmental abnormality	81887	LAS1L	ORPHA:3459
HP:0012759	Neurodevelopmental abnormality	545	ATR	ORPHA:808
HP:0012759	Neurodevelopmental abnormality	545	ATR	OMIM:210600
HP:0012759	Neurodevelopmental abnormality	1062	CENPE	ORPHA:808
HP:0012759	Neurodevelopmental abnormality	5116	PCNT	ORPHA:808
HP:0012759	Neurodevelopmental abnormality	5116	PCNT	OMIM:210720
HP:0012759	Neurodevelopmental abnormality	5116	PCNT	ORPHA:2637
HP:0012759	Neurodevelopmental abnormality	5932	RBBP8	ORPHA:808
HP:0012759	Neurodevelopmental abnormality	5932	RBBP8	OMIM:251255
HP:0012759	Neurodevelopmental abnormality	79902	NUP85	ORPHA:808
HP:0012759	Neurodevelopmental abnormality	84126	ATRIP	ORPHA:808
HP:0012759	Neurodevelopmental abnormality	10293	TRAIP	ORPHA:808
HP:0012759	Neurodevelopmental abnormality	1763	DNA2	ORPHA:808
HP:0012759	Neurodevelopmental abnormality	1763	DNA2	OMIM:615807
HP:0012759	Neurodevelopmental abnormality	22995	CEP152	ORPHA:808
HP:0012759	Neurodevelopmental abnormality	22995	CEP152	OMIM:613823
HP:0012759	Neurodevelopmental abnormality	200403	VWA3B	OMIM:616948
HP:0012759	Neurodevelopmental abnormality	147372	CCBE1	OMIM:235510
HP:0012759	Neurodevelopmental abnormality	147372	CCBE1	ORPHA:2136
HP:0012759	Neurodevelopmental abnormality	6509	SLC1A4	ORPHA:447997
HP:0012759	Neurodevelopmental abnormality	6509	SLC1A4	OMIM:616657
HP:0012759	Neurodevelopmental abnormality	3339	HSPG2	ORPHA:800
HP:0012759	Neurodevelopmental abnormality	3339	HSPG2	ORPHA:1606
HP:0012759	Neurodevelopmental abnormality	3339	HSPG2	OMIM:255800
HP:0012759	Neurodevelopmental abnormality	2776	GNAQ	ORPHA:3205
HP:0012759	Neurodevelopmental abnormality	2776	GNAQ	ORPHA:624
HP:0012759	Neurodevelopmental abnormality	2776	GNAQ	OMIM:185300
HP:0012759	Neurodevelopmental abnormality	226	ALDOA	ORPHA:57
HP:0012759	Neurodevelopmental abnormality	226	ALDOA	OMIM:611881
HP:0012759	Neurodevelopmental abnormality	6567	SLC16A2	ORPHA:59
HP:0012759	Neurodevelopmental abnormality	3897	L1CAM	ORPHA:1497
HP:0012759	Neurodevelopmental abnormality	3897	L1CAM	OMIM:307000
HP:0012759	Neurodevelopmental abnormality	3897	L1CAM	ORPHA:2466
HP:0012759	Neurodevelopmental abnormality	3897	L1CAM	OMIM:304100
HP:0012759	Neurodevelopmental abnormality	3897	L1CAM	OMIM:303350
HP:0012759	Neurodevelopmental abnormality	22907	DHX30	OMIM:617804
HP:0012759	Neurodevelopmental abnormality	9990	SLC12A6	ORPHA:1496
HP:0012759	Neurodevelopmental abnormality	9990	SLC12A6	OMIM:620068
HP:0012759	Neurodevelopmental abnormality	9990	SLC12A6	OMIM:218000
HP:0012759	Neurodevelopmental abnormality	7407	VARS1	OMIM:617802
HP:0012759	Neurodevelopmental abnormality	9894	TELO2	OMIM:616954
HP:0012759	Neurodevelopmental abnormality	57724	EPG5	ORPHA:1493
HP:0012759	Neurodevelopmental abnormality	196528	ARID2	OMIM:617808
HP:0012759	Neurodevelopmental abnormality	9230	RAB11B	OMIM:617807
HP:0012759	Neurodevelopmental abnormality	10075	HUWE1	OMIM:309590
HP:0012759	Neurodevelopmental abnormality	22856	CHSY1	ORPHA:363417
HP:0012759	Neurodevelopmental abnormality	60529	ALX4	OMIM:613451
HP:0012759	Neurodevelopmental abnormality	60529	ALX4	ORPHA:52022
HP:0012759	Neurodevelopmental abnormality	60529	ALX4	ORPHA:60015
HP:0012759	Neurodevelopmental abnormality	8733	GPAA1	OMIM:617810
HP:0012759	Neurodevelopmental abnormality	26160	IFT172	OMIM:615630
HP:0012759	Neurodevelopmental abnormality	26160	IFT172	ORPHA:110
HP:0012759	Neurodevelopmental abnormality	79848	CSPP1	OMIM:615636
HP:0012759	Neurodevelopmental abnormality	79848	CSPP1	ORPHA:475
HP:0012759	Neurodevelopmental abnormality	9759	HDAC4	ORPHA:1001
HP:0012759	Neurodevelopmental abnormality	9759	HDAC4	OMIM:600430
HP:0012759	Neurodevelopmental abnormality	11133	KPTN	OMIM:615637
HP:0012759	Neurodevelopmental abnormality	11133	KPTN	ORPHA:397612
HP:0012759	Neurodevelopmental abnormality	8092	ALX1	OMIM:613456
HP:0012759	Neurodevelopmental abnormality	8092	ALX1	ORPHA:306542
HP:0012759	Neurodevelopmental abnormality	5279	PIGC	OMIM:617816
HP:0012759	Neurodevelopmental abnormality	57465	TBC1D24	OMIM:605021
HP:0012759	Neurodevelopmental abnormality	57465	TBC1D24	OMIM:220500
HP:0012759	Neurodevelopmental abnormality	9150	CTDP1	OMIM:604168
HP:0012759	Neurodevelopmental abnormality	79587	CARS2	ORPHA:477774
HP:0012759	Neurodevelopmental abnormality	84162	BLTP1	OMIM:617822
HP:0012759	Neurodevelopmental abnormality	80347	COASY	OMIM:615643
HP:0012759	Neurodevelopmental abnormality	1806	DPYD	OMIM:274270
HP:0012759	Neurodevelopmental abnormality	1806	DPYD	ORPHA:293948
HP:0012759	Neurodevelopmental abnormality	2782	GNB1	OMIM:616973
HP:0012759	Neurodevelopmental abnormality	2782	GNB1	ORPHA:488613
HP:0012759	Neurodevelopmental abnormality	5447	POR	OMIM:207410
HP:0012759	Neurodevelopmental abnormality	8085	KMT2D	ORPHA:2322
HP:0012759	Neurodevelopmental abnormality	8085	KMT2D	OMIM:147920
HP:0012759	Neurodevelopmental abnormality	7403	KDM6A	ORPHA:2322
HP:0012759	Neurodevelopmental abnormality	7403	KDM6A	OMIM:300867
HP:0012759	Neurodevelopmental abnormality	7403	KDM6A	OMIM:147920
HP:0012759	Neurodevelopmental abnormality	10413	YAP1	ORPHA:1473
HP:0012759	Neurodevelopmental abnormality	10413	YAP1	OMIM:120433
HP:0012759	Neurodevelopmental abnormality	7200	TRH	OMIM:275120
HP:0012759	Neurodevelopmental abnormality	3097	HIVEP2	OMIM:616977
HP:0012759	Neurodevelopmental abnormality	2561	GABRB2	OMIM:617829
HP:0012759	Neurodevelopmental abnormality	2561	GABRB2	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	2332	FMR1	ORPHA:449291
HP:0012759	Neurodevelopmental abnormality	2821	GPI	OMIM:613470
HP:0012759	Neurodevelopmental abnormality	116150	NUS1	OMIM:617831
HP:0012759	Neurodevelopmental abnormality	116150	NUS1	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	51741	WWOX	OMIM:614322
HP:0012759	Neurodevelopmental abnormality	51741	WWOX	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	4358	MPV17	OMIM:256810
HP:0012759	Neurodevelopmental abnormality	134701	RIPPLY2	ORPHA:2311
HP:0012759	Neurodevelopmental abnormality	10683	DLL3	ORPHA:2311
HP:0012759	Neurodevelopmental abnormality	3955	LFNG	ORPHA:2311
HP:0012759	Neurodevelopmental abnormality	84667	HES7	ORPHA:2311
HP:0012759	Neurodevelopmental abnormality	145873	MESP2	ORPHA:2311
HP:0012759	Neurodevelopmental abnormality	6663	SOX10	ORPHA:163746
HP:0012759	Neurodevelopmental abnormality	6663	SOX10	OMIM:611584
HP:0012759	Neurodevelopmental abnormality	6663	SOX10	OMIM:609136
HP:0012759	Neurodevelopmental abnormality	79947	DHDDS	OMIM:617836
HP:0012759	Neurodevelopmental abnormality	79947	DHDDS	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	2911	GRM1	ORPHA:324262
HP:0012759	Neurodevelopmental abnormality	2911	GRM1	OMIM:614831
HP:0012759	Neurodevelopmental abnormality	2138	EYA1	ORPHA:2792
HP:0012759	Neurodevelopmental abnormality	5075	PAX1	ORPHA:2792
HP:0012759	Neurodevelopmental abnormality	157570	ESCO2	ORPHA:2319
HP:0012759	Neurodevelopmental abnormality	157570	ESCO2	OMIM:268300
HP:0012759	Neurodevelopmental abnormality	157570	ESCO2	OMIM:216100
HP:0012759	Neurodevelopmental abnormality	157570	ESCO2	ORPHA:3103
HP:0012759	Neurodevelopmental abnormality	79583	TMEM231	ORPHA:2318
HP:0012759	Neurodevelopmental abnormality	79583	TMEM231	ORPHA:2754
HP:0012759	Neurodevelopmental abnormality	51524	TMEM138	ORPHA:2318
HP:0012759	Neurodevelopmental abnormality	23090	ZNF423	ORPHA:2318
HP:0012759	Neurodevelopmental abnormality	57545	CC2D2A	ORPHA:2318
HP:0012759	Neurodevelopmental abnormality	57545	CC2D2A	OMIM:619111
HP:0012759	Neurodevelopmental abnormality	57545	CC2D2A	OMIM:612285
HP:0012759	Neurodevelopmental abnormality	197131	UBR1	ORPHA:2315
HP:0012759	Neurodevelopmental abnormality	197131	UBR1	OMIM:243800
HP:0012759	Neurodevelopmental abnormality	6792	CDKL5	ORPHA:505652
HP:0012759	Neurodevelopmental abnormality	6792	CDKL5	ORPHA:1934
HP:0012759	Neurodevelopmental abnormality	6792	CDKL5	ORPHA:3095
HP:0012759	Neurodevelopmental abnormality	84188	FAR1	ORPHA:438178
HP:0012759	Neurodevelopmental abnormality	7098	TLR3	OMIM:613002
HP:0012759	Neurodevelopmental abnormality	4914	NTRK1	OMIM:256800
HP:0012759	Neurodevelopmental abnormality	4914	NTRK1	ORPHA:642
HP:0012759	Neurodevelopmental abnormality	114548	NLRP3	ORPHA:1451
HP:0012759	Neurodevelopmental abnormality	139285	AMER1	ORPHA:2780
HP:0012759	Neurodevelopmental abnormality	760	CA2	ORPHA:2785
HP:0012759	Neurodevelopmental abnormality	760	CA2	OMIM:259730
HP:0012759	Neurodevelopmental abnormality	64840	PORCN	OMIM:305600
HP:0012759	Neurodevelopmental abnormality	55180	LINS1	OMIM:614340
HP:0012759	Neurodevelopmental abnormality	1213	CLTC	OMIM:617854
HP:0012759	Neurodevelopmental abnormality	1213	CLTC	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	23040	MYT1L	OMIM:616521
HP:0012759	Neurodevelopmental abnormality	23040	MYT1L	ORPHA:647799
HP:0012759	Neurodevelopmental abnormality	85440	DOCK7	ORPHA:411986
HP:0012759	Neurodevelopmental abnormality	6697	SPR	ORPHA:70594
HP:0012759	Neurodevelopmental abnormality	6697	SPR	OMIM:612716
HP:0012759	Neurodevelopmental abnormality	1130	LYST	ORPHA:352723
HP:0012759	Neurodevelopmental abnormality	1130	LYST	OMIM:214500
HP:0012759	Neurodevelopmental abnormality	1130	LYST	ORPHA:167
HP:0012759	Neurodevelopmental abnormality	8022	LHX3	OMIM:221750
HP:0012759	Neurodevelopmental abnormality	1836	SLC26A2	OMIM:222600
HP:0012759	Neurodevelopmental abnormality	22796	COG2	ORPHA:435934
HP:0012759	Neurodevelopmental abnormality	953	ENTPD1	OMIM:615683
HP:0012759	Neurodevelopmental abnormality	2893	GRIA4	OMIM:617864
HP:0012759	Neurodevelopmental abnormality	23204	ARL6IP1	OMIM:615685
HP:0012759	Neurodevelopmental abnormality	81562	LMAN2L	OMIM:617863
HP:0012759	Neurodevelopmental abnormality	271	AMPD2	OMIM:615686
HP:0012759	Neurodevelopmental abnormality	271	AMPD2	OMIM:615809
HP:0012759	Neurodevelopmental abnormality	60482	SLC5A7	ORPHA:98914
HP:0012759	Neurodevelopmental abnormality	60482	SLC5A7	OMIM:617143
HP:0012759	Neurodevelopmental abnormality	4649	MYO9A	ORPHA:98914
HP:0012759	Neurodevelopmental abnormality	1305	COL13A1	ORPHA:98914
HP:0012759	Neurodevelopmental abnormality	1103	CHAT	ORPHA:98914
HP:0012759	Neurodevelopmental abnormality	6576	SLC25A1	ORPHA:98914
HP:0012759	Neurodevelopmental abnormality	6843	VAMP1	ORPHA:98914
HP:0012759	Neurodevelopmental abnormality	375790	AGRN	ORPHA:98914
HP:0012759	Neurodevelopmental abnormality	127833	SYT2	ORPHA:98914
HP:0012759	Neurodevelopmental abnormality	6572	SLC18A3	ORPHA:98914
HP:0012759	Neurodevelopmental abnormality	6616	SNAP25	ORPHA:98914
HP:0012759	Neurodevelopmental abnormality	8292	COLQ	ORPHA:98915
HP:0012759	Neurodevelopmental abnormality	3913	LAMB2	ORPHA:98915
HP:0012759	Neurodevelopmental abnormality	84628	NTNG2	OMIM:618718
HP:0012759	Neurodevelopmental abnormality	9076	CLDN1	OMIM:607626
HP:0012759	Neurodevelopmental abnormality	4094	MAF	OMIM:601088
HP:0012759	Neurodevelopmental abnormality	4094	MAF	ORPHA:1272
HP:0012759	Neurodevelopmental abnormality	10577	NPC2	OMIM:607625
HP:0012759	Neurodevelopmental abnormality	5422	POLA1	OMIM:301220
HP:0012759	Neurodevelopmental abnormality	5422	POLA1	OMIM:301030
HP:0012759	Neurodevelopmental abnormality	6513	SLC2A1	OMIM:606777
HP:0012759	Neurodevelopmental abnormality	6513	SLC2A1	ORPHA:1942
HP:0012759	Neurodevelopmental abnormality	6513	SLC2A1	ORPHA:168577
HP:0012759	Neurodevelopmental abnormality	6513	SLC2A1	OMIM:608885
HP:0012759	Neurodevelopmental abnormality	6513	SLC2A1	ORPHA:71277
HP:0012759	Neurodevelopmental abnormality	6513	SLC2A1	ORPHA:64280
HP:0012759	Neurodevelopmental abnormality	6513	SLC2A1	ORPHA:53583
HP:0012759	Neurodevelopmental abnormality	6513	SLC2A1	OMIM:614847
HP:0012759	Neurodevelopmental abnormality	6513	SLC2A1	ORPHA:98811
HP:0012759	Neurodevelopmental abnormality	54802	TRIT1	OMIM:617873
HP:0012759	Neurodevelopmental abnormality	650	BMP2	OMIM:617877
HP:0012759	Neurodevelopmental abnormality	51317	PHF21A	OMIM:618725
HP:0012759	Neurodevelopmental abnormality	51317	PHF21A	ORPHA:52022
HP:0012759	Neurodevelopmental abnormality	55733	HHAT	ORPHA:1422
HP:0012759	Neurodevelopmental abnormality	10735	STAG2	ORPHA:220386
HP:0012759	Neurodevelopmental abnormality	10735	STAG2	ORPHA:93925
HP:0012759	Neurodevelopmental abnormality	10735	STAG2	OMIM:301043
HP:0012759	Neurodevelopmental abnormality	8243	SMC1A	ORPHA:220386
HP:0012759	Neurodevelopmental abnormality	8243	SMC1A	OMIM:300590
HP:0012759	Neurodevelopmental abnormality	8243	SMC1A	ORPHA:199
HP:0012759	Neurodevelopmental abnormality	8243	SMC1A	ORPHA:3095
HP:0012759	Neurodevelopmental abnormality	387	RHOA	OMIM:618727
HP:0012759	Neurodevelopmental abnormality	8777	MPDZ	OMIM:615219
HP:0012759	Neurodevelopmental abnormality	5449	POU1F1	OMIM:613038
HP:0012759	Neurodevelopmental abnormality	8481	OFD1	ORPHA:2750
HP:0012759	Neurodevelopmental abnormality	8481	OFD1	ORPHA:2754
HP:0012759	Neurodevelopmental abnormality	8481	OFD1	OMIM:311200
HP:0012759	Neurodevelopmental abnormality	8481	OFD1	ORPHA:475
HP:0012759	Neurodevelopmental abnormality	7138	TNNT1	ORPHA:98902
HP:0012759	Neurodevelopmental abnormality	7138	TNNT1	OMIM:605355
HP:0012759	Neurodevelopmental abnormality	8086	AAAS	OMIM:231550
HP:0012759	Neurodevelopmental abnormality	8086	AAAS	ORPHA:869
HP:0012759	Neurodevelopmental abnormality	64131	XYLT1	ORPHA:1425
HP:0012759	Neurodevelopmental abnormality	64131	XYLT1	OMIM:615777
HP:0012759	Neurodevelopmental abnormality	124583	CANT1	ORPHA:1425
HP:0012759	Neurodevelopmental abnormality	124583	CANT1	OMIM:251450
HP:0012759	Neurodevelopmental abnormality	55790	CSGALNACT1	ORPHA:1425
HP:0012759	Neurodevelopmental abnormality	8139	GAN	OMIM:256850
HP:0012759	Neurodevelopmental abnormality	8139	GAN	ORPHA:643
HP:0012759	Neurodevelopmental abnormality	10210	TOPORS	ORPHA:2754
HP:0012759	Neurodevelopmental abnormality	9851	KIAA0753	ORPHA:2754
HP:0012759	Neurodevelopmental abnormality	9851	KIAA0753	ORPHA:475
HP:0012759	Neurodevelopmental abnormality	5147	PDE6D	ORPHA:2754
HP:0012759	Neurodevelopmental abnormality	5147	PDE6D	ORPHA:475
HP:0012759	Neurodevelopmental abnormality	65250	CPLANE1	ORPHA:2754
HP:0012759	Neurodevelopmental abnormality	65250	CPLANE1	OMIM:277170
HP:0012759	Neurodevelopmental abnormality	65250	CPLANE1	ORPHA:475
HP:0012759	Neurodevelopmental abnormality	2182	ACSL4	OMIM:300387
HP:0012759	Neurodevelopmental abnormality	83452	RAB33B	OMIM:615222
HP:0012759	Neurodevelopmental abnormality	8626	TP63	ORPHA:1896
HP:0012759	Neurodevelopmental abnormality	8626	TP63	OMIM:106260
HP:0012759	Neurodevelopmental abnormality	8626	TP63	OMIM:604292
HP:0012759	Neurodevelopmental abnormality	7545	ZIC1	OMIM:618736
HP:0012759	Neurodevelopmental abnormality	7545	ZIC1	ORPHA:35099
HP:0012759	Neurodevelopmental abnormality	51763	INPP5K	OMIM:617404
HP:0012759	Neurodevelopmental abnormality	4281	MID1	ORPHA:2745
HP:0012759	Neurodevelopmental abnormality	109	ADCY3	OMIM:617885
HP:0012759	Neurodevelopmental abnormality	1460	CSNK2B	OMIM:618732
HP:0012759	Neurodevelopmental abnormality	8449	DHX16	OMIM:618733
HP:0012759	Neurodevelopmental abnormality	2746	GLUD1	OMIM:606762
HP:0012759	Neurodevelopmental abnormality	246329	STAC3	OMIM:255995
HP:0012759	Neurodevelopmental abnormality	1497	CTNS	OMIM:219800
HP:0012759	Neurodevelopmental abnormality	8367	H4C5	OMIM:619950
HP:0012759	Neurodevelopmental abnormality	8294	H4C9	OMIM:619951
HP:0012759	Neurodevelopmental abnormality	229	ALDOB	OMIM:229600
HP:0012759	Neurodevelopmental abnormality	9853	RUSC2	OMIM:617773
HP:0012759	Neurodevelopmental abnormality	3703	STT3A	OMIM:615596
HP:0012759	Neurodevelopmental abnormality	3703	STT3A	OMIM:619714
HP:0012759	Neurodevelopmental abnormality	3703	STT3A	ORPHA:370921
HP:0012759	Neurodevelopmental abnormality	6873	TAF2	OMIM:615599
HP:0012759	Neurodevelopmental abnormality	6873	TAF2	ORPHA:397951
HP:0012759	Neurodevelopmental abnormality	1947	EFNB1	ORPHA:1520
HP:0012759	Neurodevelopmental abnormality	1947	EFNB1	OMIM:304110
HP:0012759	Neurodevelopmental abnormality	23417	MLYCD	OMIM:248360
HP:0012759	Neurodevelopmental abnormality	4047	LSS	ORPHA:2850
HP:0012759	Neurodevelopmental abnormality	4047	LSS	OMIM:618840
HP:0012759	Neurodevelopmental abnormality	197	AHSG	ORPHA:2850
HP:0012759	Neurodevelopmental abnormality	3694	ITGB6	ORPHA:2850
HP:0012759	Neurodevelopmental abnormality	5830	PEX5	OMIM:214110
HP:0012759	Neurodevelopmental abnormality	5830	PEX5	OMIM:202370
HP:0012759	Neurodevelopmental abnormality	2067	ERCC1	ORPHA:90322
HP:0012759	Neurodevelopmental abnormality	114803	MYSM1	ORPHA:508542
HP:0012759	Neurodevelopmental abnormality	65267	WNK3	OMIM:309610
HP:0012759	Neurodevelopmental abnormality	7552	ZNF711	OMIM:300803
HP:0012759	Neurodevelopmental abnormality	6855	SYP	OMIM:300802
HP:0012759	Neurodevelopmental abnormality	51111	KMT5B	OMIM:617788
HP:0012759	Neurodevelopmental abnormality	55689	YEATS2	OMIM:615127
HP:0012759	Neurodevelopmental abnormality	55689	YEATS2	ORPHA:86814
HP:0012759	Neurodevelopmental abnormality	80155	NAA15	OMIM:617787
HP:0012759	Neurodevelopmental abnormality	526	ATP6V1B2	OMIM:616455
HP:0012759	Neurodevelopmental abnormality	526	ATP6V1B2	ORPHA:79499
HP:0012759	Neurodevelopmental abnormality	526	ATP6V1B2	ORPHA:3473
HP:0012759	Neurodevelopmental abnormality	526	ATP6V1B2	OMIM:124480
HP:0012759	Neurodevelopmental abnormality	10730	YME1L1	OMIM:617302
HP:0012759	Neurodevelopmental abnormality	129563	DIS3L2	ORPHA:2849
HP:0012759	Neurodevelopmental abnormality	3908	LAMA2	ORPHA:258
HP:0012759	Neurodevelopmental abnormality	3908	LAMA2	OMIM:607855
HP:0012759	Neurodevelopmental abnormality	50964	SOST	ORPHA:1513
HP:0012759	Neurodevelopmental abnormality	121340	SP7	ORPHA:1513
HP:0012759	Neurodevelopmental abnormality	23474	ETHE1	ORPHA:51188
HP:0012759	Neurodevelopmental abnormality	23474	ETHE1	OMIM:602473
HP:0012759	Neurodevelopmental abnormality	5428	POLG	ORPHA:298
HP:0012759	Neurodevelopmental abnormality	5428	POLG	OMIM:603041
HP:0012759	Neurodevelopmental abnormality	1890	TYMP	ORPHA:298
HP:0012759	Neurodevelopmental abnormality	1890	TYMP	OMIM:603041
HP:0012759	Neurodevelopmental abnormality	3980	LIG3	ORPHA:298
HP:0012759	Neurodevelopmental abnormality	50484	RRM2B	ORPHA:298
HP:0012759	Neurodevelopmental abnormality	50484	RRM2B	OMIM:612075
HP:0012759	Neurodevelopmental abnormality	10559	SLC35A1	OMIM:603585
HP:0012759	Neurodevelopmental abnormality	8575	PRKRA	ORPHA:210571
HP:0012759	Neurodevelopmental abnormality	535	ATP6V0A1	OMIM:619971
HP:0012759	Neurodevelopmental abnormality	535	ATP6V0A1	OMIM:619970
HP:0012759	Neurodevelopmental abnormality	2937	GSS	OMIM:231900
HP:0012759	Neurodevelopmental abnormality	2937	GSS	OMIM:266130
HP:0012759	Neurodevelopmental abnormality	129685	TAF8	OMIM:619972
HP:0012759	Neurodevelopmental abnormality	10584	COLEC10	OMIM:248340
HP:0012759	Neurodevelopmental abnormality	10584	COLEC10	ORPHA:293843
HP:0012759	Neurodevelopmental abnormality	55870	ASH1L	OMIM:617796
HP:0012759	Neurodevelopmental abnormality	816	CAMK2B	OMIM:617799
HP:0012759	Neurodevelopmental abnormality	815	CAMK2A	OMIM:617798
HP:0012759	Neurodevelopmental abnormality	55109	AGGF1	ORPHA:90308
HP:0012759	Neurodevelopmental abnormality	5290	PIK3CA	ORPHA:90308
HP:0012759	Neurodevelopmental abnormality	5290	PIK3CA	ORPHA:168984
HP:0012759	Neurodevelopmental abnormality	5290	PIK3CA	ORPHA:201
HP:0012759	Neurodevelopmental abnormality	5290	PIK3CA	ORPHA:140944
HP:0012759	Neurodevelopmental abnormality	5290	PIK3CA	ORPHA:60040
HP:0012759	Neurodevelopmental abnormality	5290	PIK3CA	OMIM:615108
HP:0012759	Neurodevelopmental abnormality	5290	PIK3CA	OMIM:602501
HP:0012759	Neurodevelopmental abnormality	64359	NXN	ORPHA:1507
HP:0012759	Neurodevelopmental abnormality	4920	ROR2	ORPHA:1507
HP:0012759	Neurodevelopmental abnormality	4920	ROR2	OMIM:268310
HP:0012759	Neurodevelopmental abnormality	5566	PRKACA	ORPHA:289
HP:0012759	Neurodevelopmental abnormality	5567	PRKACB	ORPHA:289
HP:0012759	Neurodevelopmental abnormality	2735	GLI1	ORPHA:289
HP:0012759	Neurodevelopmental abnormality	2121	EVC	ORPHA:289
HP:0012759	Neurodevelopmental abnormality	2121	EVC	OMIM:225500
HP:0012759	Neurodevelopmental abnormality	51626	DYNC2LI1	ORPHA:289
HP:0012759	Neurodevelopmental abnormality	132884	EVC2	ORPHA:289
HP:0012759	Neurodevelopmental abnormality	132884	EVC2	OMIM:225500
HP:0012759	Neurodevelopmental abnormality	22884	WDR37	OMIM:618652
HP:0012759	Neurodevelopmental abnormality	1656	DDX6	OMIM:618653
HP:0012759	Neurodevelopmental abnormality	3612	IMPA1	OMIM:617323
HP:0012759	Neurodevelopmental abnormality	55714	TENM3	OMIM:615145
HP:0012759	Neurodevelopmental abnormality	57178	ZMIZ1	OMIM:618659
HP:0012759	Neurodevelopmental abnormality	7291	TWIST1	OMIM:101400
HP:0012759	Neurodevelopmental abnormality	7291	TWIST1	ORPHA:35099
HP:0012759	Neurodevelopmental abnormality	7291	TWIST1	OMIM:123100
HP:0012759	Neurodevelopmental abnormality	2783	GNB2	OMIM:619503
HP:0012759	Neurodevelopmental abnormality	9731	CEP104	OMIM:619988
HP:0012759	Neurodevelopmental abnormality	9731	CEP104	ORPHA:475
HP:0012759	Neurodevelopmental abnormality	3737	KCNA2	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	3737	KCNA2	OMIM:616366
HP:0012759	Neurodevelopmental abnormality	8120	AP3B2	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	523	ATP6V1A	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	523	ATP6V1A	OMIM:618012
HP:0012759	Neurodevelopmental abnormality	10991	SLC38A3	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	10991	SLC38A3	OMIM:619881
HP:0012759	Neurodevelopmental abnormality	51343	FZR1	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	3747	KCNC2	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	3747	KCNC2	OMIM:619913
HP:0012759	Neurodevelopmental abnormality	1917	EEF1A2	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	23219	FBXO28	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	23219	FBXO28	OMIM:619777
HP:0012759	Neurodevelopmental abnormality	2558	GABRA5	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	2906	GRIN2D	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	23334	SZT2	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	348980	HCN1	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	348980	HCN1	OMIM:615871
HP:0012759	Neurodevelopmental abnormality	348980	HCN1	OMIM:618482
HP:0012759	Neurodevelopmental abnormality	25977	NECAP1	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	23241	PACS2	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	23241	PACS2	OMIM:618067
HP:0012759	Neurodevelopmental abnormality	16	AARS1	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	9568	GABBR2	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	9568	GABBR2	ORPHA:3095
HP:0012759	Neurodevelopmental abnormality	9568	GABBR2	OMIM:617903
HP:0012759	Neurodevelopmental abnormality	9568	GABBR2	OMIM:617904
HP:0012759	Neurodevelopmental abnormality	2555	GABRA2	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	55152	DALRD3	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	26999	CYFIP2	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	25973	PARS2	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	23097	CDK19	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	23097	CDK19	OMIM:618916
HP:0012759	Neurodevelopmental abnormality	2257	FGF12	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	5530	PPP3CA	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	5530	PPP3CA	OMIM:618265
HP:0012759	Neurodevelopmental abnormality	5530	PPP3CA	OMIM:617711
HP:0012759	Neurodevelopmental abnormality	22906	TRAK1	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	2566	GABRG2	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	2566	GABRG2	ORPHA:64280
HP:0012759	Neurodevelopmental abnormality	7532	YWHAG	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	7532	YWHAG	OMIM:617665
HP:0012759	Neurodevelopmental abnormality	79876	UBA5	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	6328	SCN3A	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	781	CACNA2D1	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	10659	CELF2	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	10659	CELF2	OMIM:619561
HP:0012759	Neurodevelopmental abnormality	774	CACNA1B	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	51412	ACTL6B	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	51412	ACTL6B	OMIM:618468
HP:0012759	Neurodevelopmental abnormality	2290	FOXG1	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	6506	SLC1A2	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	3745	KCNB1	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	284111	SLC13A5	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	22866	CNKSR2	ORPHA:442835
HP:0012759	Neurodevelopmental abnormality	55623	THUMPD1	OMIM:619989
HP:0012759	Neurodevelopmental abnormality	3782	KCNN3	OMIM:618658
HP:0012759	Neurodevelopmental abnormality	3782	KCNN3	ORPHA:3473
HP:0012759	Neurodevelopmental abnormality	8642	DCHS1	OMIM:601390
HP:0012759	Neurodevelopmental abnormality	492	ATP2B3	ORPHA:314978
HP:0012759	Neurodevelopmental abnormality	3476	IGBP1	ORPHA:52055
HP:0012759	Neurodevelopmental abnormality	3476	IGBP1	OMIM:300472
HP:0012759	Neurodevelopmental abnormality	54888	NSUN2	ORPHA:235
HP:0012759	Neurodevelopmental abnormality	54888	NSUN2	OMIM:611091
HP:0012759	Neurodevelopmental abnormality	253738	EBF3	OMIM:617330
HP:0012759	Neurodevelopmental abnormality	253738	EBF3	ORPHA:96148
HP:0012759	Neurodevelopmental abnormality	56006	SMG9	OMIM:619995
HP:0012759	Neurodevelopmental abnormality	1182	CLCN3	OMIM:619512
HP:0012759	Neurodevelopmental abnormality	7862	BRPF1	OMIM:617333
HP:0012759	Neurodevelopmental abnormality	59335	PRDM12	OMIM:616488
HP:0012759	Neurodevelopmental abnormality	2550	GABBR1	OMIM:620502
HP:0012759	Neurodevelopmental abnormality	286	ANK1	ORPHA:251066
HP:0012759	Neurodevelopmental abnormality	5860	QDPR	ORPHA:226
HP:0012759	Neurodevelopmental abnormality	5860	QDPR	OMIM:261630
HP:0012759	Neurodevelopmental abnormality	93986	FOXP2	ORPHA:251061
HP:0012759	Neurodevelopmental abnormality	26137	ZBTB20	OMIM:259050
HP:0012759	Neurodevelopmental abnormality	26137	ZBTB20	ORPHA:3042
HP:0012759	Neurodevelopmental abnormality	9533	POLR1C	OMIM:616494
HP:0012759	Neurodevelopmental abnormality	7750	ZMYM2	OMIM:619522
HP:0012759	Neurodevelopmental abnormality	4849	CNOT3	OMIM:618672
HP:0012759	Neurodevelopmental abnormality	57466	SCAF4	OMIM:620511
HP:0012759	Neurodevelopmental abnormality	488	ATP2A2	ORPHA:218
HP:0012759	Neurodevelopmental abnormality	23314	SATB2	ORPHA:576283
HP:0012759	Neurodevelopmental abnormality	23314	SATB2	OMIM:612313
HP:0012759	Neurodevelopmental abnormality	153201	SLC36A2	OMIM:242600
HP:0012759	Neurodevelopmental abnormality	284098	PIGW	OMIM:616025
HP:0012759	Neurodevelopmental abnormality	284098	PIGW	ORPHA:247262
HP:0012759	Neurodevelopmental abnormality	339855	KY	ORPHA:496689
HP:0012759	Neurodevelopmental abnormality	10848	PPP1R13L	OMIM:620519
HP:0012759	Neurodevelopmental abnormality	57479	PRR12	OMIM:619539
HP:0012759	Neurodevelopmental abnormality	2678	GGT1	OMIM:231950
HP:0012759	Neurodevelopmental abnormality	3785	KCNQ2	ORPHA:439218
HP:0012759	Neurodevelopmental abnormality	3785	KCNQ2	OMIM:613720
HP:0012759	Neurodevelopmental abnormality	3930	LBR	OMIM:169400
HP:0012759	Neurodevelopmental abnormality	1107	CHD3	OMIM:618205
HP:0012759	Neurodevelopmental abnormality	23189	KANK1	OMIM:612900
HP:0012759	Neurodevelopmental abnormality	2055	CLN8	ORPHA:1947
HP:0012759	Neurodevelopmental abnormality	2055	CLN8	OMIM:610003
HP:0012759	Neurodevelopmental abnormality	1173	AP2M1	ORPHA:1942
HP:0012759	Neurodevelopmental abnormality	1173	AP2M1	OMIM:618587
HP:0012759	Neurodevelopmental abnormality	6529	SLC6A1	ORPHA:1942
HP:0012759	Neurodevelopmental abnormality	6529	SLC6A1	OMIM:616421
HP:0012759	Neurodevelopmental abnormality	6595	SMARCA2	OMIM:601358
HP:0012759	Neurodevelopmental abnormality	6595	SMARCA2	ORPHA:3051
HP:0012759	Neurodevelopmental abnormality	6595	SMARCA2	OMIM:619293
HP:0012759	Neurodevelopmental abnormality	148789	B3GALNT2	OMIM:615181
HP:0012759	Neurodevelopmental abnormality	148789	B3GALNT2	ORPHA:899
HP:0012759	Neurodevelopmental abnormality	6812	STXBP1	ORPHA:599373
HP:0012759	Neurodevelopmental abnormality	8621	CDK13	OMIM:617360
HP:0012759	Neurodevelopmental abnormality	27133	KCNH5	OMIM:620537
HP:0012759	Neurodevelopmental abnormality	6709	SPTAN1	OMIM:620538
HP:0012759	Neurodevelopmental abnormality	6709	SPTAN1	OMIM:620540
HP:0012759	Neurodevelopmental abnormality	164	AP1G1	OMIM:619548
HP:0012759	Neurodevelopmental abnormality	164	AP1G1	OMIM:619467
HP:0012759	Neurodevelopmental abnormality	3736	KCNA1	ORPHA:1934
HP:0012759	Neurodevelopmental abnormality	9091	PIGQ	ORPHA:1934
HP:0012759	Neurodevelopmental abnormality	140679	SLC32A1	ORPHA:1934
HP:0012759	Neurodevelopmental abnormality	140679	SLC32A1	OMIM:620774
HP:0012759	Neurodevelopmental abnormality	2775	GNAO1	ORPHA:1934
HP:0012759	Neurodevelopmental abnormality	81603	TRIM8	ORPHA:1934
HP:0012759	Neurodevelopmental abnormality	2902	GRIN1	ORPHA:1934
HP:0012759	Neurodevelopmental abnormality	2902	GRIN1	OMIM:614254
HP:0012759	Neurodevelopmental abnormality	79751	SLC25A22	ORPHA:1934
HP:0012759	Neurodevelopmental abnormality	150094	SIK1	ORPHA:1934
HP:0012759	Neurodevelopmental abnormality	8573	CASK	ORPHA:1934
HP:0012759	Neurodevelopmental abnormality	8573	CASK	OMIM:300422
HP:0012759	Neurodevelopmental abnormality	23312	DMXL2	ORPHA:1934
HP:0012759	Neurodevelopmental abnormality	2917	GRM7	ORPHA:1934
HP:0012759	Neurodevelopmental abnormality	2917	GRM7	OMIM:618922
HP:0012759	Neurodevelopmental abnormality	11284	PNKP	ORPHA:1934
HP:0012759	Neurodevelopmental abnormality	51227	PIGP	ORPHA:1934
HP:0012759	Neurodevelopmental abnormality	6324	SCN1B	ORPHA:1934
HP:0012759	Neurodevelopmental abnormality	4761	NEUROD2	ORPHA:1934
HP:0012759	Neurodevelopmental abnormality	54808	DYM	ORPHA:239
HP:0012759	Neurodevelopmental abnormality	54808	DYM	OMIM:223800
HP:0012759	Neurodevelopmental abnormality	54808	DYM	OMIM:607326
HP:0012759	Neurodevelopmental abnormality	10456	HAX1	OMIM:610738
HP:0012759	Neurodevelopmental abnormality	2737	GLI3	ORPHA:672
HP:0012759	Neurodevelopmental abnormality	2737	GLI3	OMIM:146510
HP:0012759	Neurodevelopmental abnormality	2737	GLI3	OMIM:174200
HP:0012759	Neurodevelopmental abnormality	388015	RTL1	ORPHA:254531
HP:0012759	Neurodevelopmental abnormality	388015	RTL1	ORPHA:254525
HP:0012759	Neurodevelopmental abnormality	388015	RTL1	ORPHA:96184
HP:0012759	Neurodevelopmental abnormality	8788	DLK1	ORPHA:254531
HP:0012759	Neurodevelopmental abnormality	8788	DLK1	ORPHA:254525
HP:0012759	Neurodevelopmental abnormality	8788	DLK1	ORPHA:96184
HP:0012759	Neurodevelopmental abnormality	55384	MEG3	ORPHA:254531
HP:0012759	Neurodevelopmental abnormality	55384	MEG3	ORPHA:254525
HP:0012759	Neurodevelopmental abnormality	55384	MEG3	ORPHA:96184
HP:0012759	Neurodevelopmental abnormality	3912	LAMB1	OMIM:615191
HP:0012759	Neurodevelopmental abnormality	55217	TMLHE	OMIM:300872
HP:0012759	Neurodevelopmental abnormality	30000	TNPO2	OMIM:619556
HP:0012759	Neurodevelopmental abnormality	79705	LRRK1	OMIM:615198
HP:0012759	Neurodevelopmental abnormality	57102	FERRY3	OMIM:618221
HP:0012759	Neurodevelopmental abnormality	359	AQP2	OMIM:125800
HP:0012759	Neurodevelopmental abnormality	83548	COG3	OMIM:620546
HP:0012759	Neurodevelopmental abnormality	170689	ADAMTS15	OMIM:620545
HP:0012759	Neurodevelopmental abnormality	81570	CLPB	ORPHA:445038
HP:0012759	Neurodevelopmental abnormality	81570	CLPB	OMIM:616271
HP:0012759	Neurodevelopmental abnormality	5745	PTH1R	OMIM:600002
HP:0012759	Neurodevelopmental abnormality	7555	CNBP	OMIM:602668
HP:0012759	Neurodevelopmental abnormality	55869	HDAC8	OMIM:300882
HP:0012759	Neurodevelopmental abnormality	55869	HDAC8	ORPHA:3459
HP:0012759	Neurodevelopmental abnormality	55869	HDAC8	ORPHA:199
HP:0012759	Neurodevelopmental abnormality	1349	COX7B	OMIM:300887
HP:0012759	Neurodevelopmental abnormality	1349	COX7B	ORPHA:2556
HP:0012759	Neurodevelopmental abnormality	1349	COX7B	OMIM:309801
HP:0012759	Neurodevelopmental abnormality	4695	NDUFA2	OMIM:618235
HP:0012759	Neurodevelopmental abnormality	9342	SNAP29	ORPHA:66631
HP:0012759	Neurodevelopmental abnormality	79048	SECISBP2	ORPHA:171706
HP:0012759	Neurodevelopmental abnormality	2710	GK	OMIM:307030
HP:0012759	Neurodevelopmental abnormality	9126	SMC3	OMIM:610759
HP:0012759	Neurodevelopmental abnormality	9126	SMC3	ORPHA:199
HP:0012759	Neurodevelopmental abnormality	79944	L2HGDH	OMIM:236792
HP:0012759	Neurodevelopmental abnormality	10166	SLC25A15	OMIM:238970
HP:0012759	Neurodevelopmental abnormality	10166	SLC25A15	ORPHA:415
HP:0012759	Neurodevelopmental abnormality	1491	CTH	ORPHA:212
HP:0012759	Neurodevelopmental abnormality	1741	DLG3	OMIM:300850
HP:0012759	Neurodevelopmental abnormality	3192	HNRNPU	OMIM:617391
HP:0012759	Neurodevelopmental abnormality	57551	TAOK1	OMIM:619575
HP:0012759	Neurodevelopmental abnormality	56915	EXOSC5	OMIM:619576
HP:0012759	Neurodevelopmental abnormality	112939	NACC1	OMIM:617393
HP:0012759	Neurodevelopmental abnormality	2664	GDI1	OMIM:300849
HP:0012759	Neurodevelopmental abnormality	5831	PYCR1	OMIM:612940
HP:0012759	Neurodevelopmental abnormality	5831	PYCR1	OMIM:614438
HP:0012759	Neurodevelopmental abnormality	23476	BRD4	OMIM:620568
HP:0012759	Neurodevelopmental abnormality	23476	BRD4	ORPHA:199
HP:0012759	Neurodevelopmental abnormality	123263	MTFMT	OMIM:618248
HP:0012759	Neurodevelopmental abnormality	29920	PYCR2	ORPHA:481152
HP:0012759	Neurodevelopmental abnormality	9820	CUL7	OMIM:273750
HP:0012759	Neurodevelopmental abnormality	92344	GORAB	OMIM:231070
HP:0012759	Neurodevelopmental abnormality	23203	PMPCA	OMIM:213200
HP:0012759	Neurodevelopmental abnormality	23203	PMPCA	ORPHA:1170
HP:0012759	Neurodevelopmental abnormality	4864	NPC1	OMIM:257220
HP:0012759	Neurodevelopmental abnormality	2299	FOXI1	OMIM:274600
HP:0012759	Neurodevelopmental abnormality	2299	FOXI1	ORPHA:705
HP:0012759	Neurodevelopmental abnormality	5172	SLC26A4	OMIM:274600
HP:0012759	Neurodevelopmental abnormality	5172	SLC26A4	ORPHA:705
HP:0012759	Neurodevelopmental abnormality	6898	TAT	ORPHA:28378
HP:0012759	Neurodevelopmental abnormality	6898	TAT	OMIM:276600
HP:0012759	Neurodevelopmental abnormality	2898	GRIK2	OMIM:619580
HP:0012759	Neurodevelopmental abnormality	2898	GRIK2	OMIM:611092
HP:0012759	Neurodevelopmental abnormality	10483	SEC23B	ORPHA:201
HP:0012759	Neurodevelopmental abnormality	6390	SDHB	ORPHA:201
HP:0012759	Neurodevelopmental abnormality	6392	SDHD	ORPHA:201
HP:0012759	Neurodevelopmental abnormality	6391	SDHC	ORPHA:201
HP:0012759	Neurodevelopmental abnormality	205717	USF3	ORPHA:201
HP:0012759	Neurodevelopmental abnormality	100144748	KLLN	ORPHA:201
HP:0012759	Neurodevelopmental abnormality	80324	PUS1	OMIM:600462
HP:0012759	Neurodevelopmental abnormality	80324	PUS1	ORPHA:2598
HP:0012759	Neurodevelopmental abnormality	7319	UBE2A	OMIM:300860
HP:0012759	Neurodevelopmental abnormality	3172	HNF4A	ORPHA:263455
HP:0012759	Neurodevelopmental abnormality	10013	HDAC6	OMIM:300863
HP:0012759	Neurodevelopmental abnormality	80173	IFT74	OMIM:619582
HP:0012759	Neurodevelopmental abnormality	80173	IFT74	ORPHA:110
HP:0012759	Neurodevelopmental abnormality	80173	IFT74	ORPHA:475
HP:0012759	Neurodevelopmental abnormality	80173	IFT74	OMIM:617119
HP:0012759	Neurodevelopmental abnormality	26040	SETBP1	OMIM:616078
HP:0012759	Neurodevelopmental abnormality	26040	SETBP1	OMIM:269150
HP:0012759	Neurodevelopmental abnormality	2475	MTOR	ORPHA:457485
HP:0012759	Neurodevelopmental abnormality	2475	MTOR	OMIM:607341
HP:0012759	Neurodevelopmental abnormality	2475	MTOR	OMIM:616638
HP:0012759	Neurodevelopmental abnormality	6023	RMRP	OMIM:607095
HP:0012759	Neurodevelopmental abnormality	5573	PRKAR1A	OMIM:101800
HP:0012759	Neurodevelopmental abnormality	5573	PRKAR1A	ORPHA:950
HP:0012759	Neurodevelopmental abnormality	51715	RAB23	ORPHA:65759
HP:0012759	Neurodevelopmental abnormality	51715	RAB23	OMIM:201000
HP:0012759	Neurodevelopmental abnormality	1954	MEGF8	ORPHA:65759
HP:0012759	Neurodevelopmental abnormality	9244	CRLF1	OMIM:272430
HP:0012759	Neurodevelopmental abnormality	81620	CDT1	OMIM:613804
HP:0012759	Neurodevelopmental abnormality	81620	CDT1	ORPHA:2554
HP:0012759	Neurodevelopmental abnormality	50814	NSDHL	OMIM:300831
HP:0012759	Neurodevelopmental abnormality	50814	NSDHL	ORPHA:251383
HP:0012759	Neurodevelopmental abnormality	3975	LHX1	ORPHA:261265
HP:0012759	Neurodevelopmental abnormality	6928	HNF1B	ORPHA:261265
HP:0012759	Neurodevelopmental abnormality	6928	HNF1B	ORPHA:93111
HP:0012759	Neurodevelopmental abnormality	139411	PTCHD1	OMIM:300830
HP:0012759	Neurodevelopmental abnormality	10847	SRCAP	OMIM:619595
HP:0012759	Neurodevelopmental abnormality	10847	SRCAP	OMIM:136140
HP:0012759	Neurodevelopmental abnormality	79005	SCNM1	OMIM:620107
HP:0012759	Neurodevelopmental abnormality	4983	OPHN1	ORPHA:137831
HP:0012759	Neurodevelopmental abnormality	4983	OPHN1	OMIM:300486
HP:0012759	Neurodevelopmental abnormality	4810	NHS	ORPHA:627
HP:0012759	Neurodevelopmental abnormality	4796	TONSL	OMIM:271510
HP:0012759	Neurodevelopmental abnormality	2132	EXT2	ORPHA:52022
HP:0012759	Neurodevelopmental abnormality	1605	DAG1	OMIM:613818
HP:0012759	Neurodevelopmental abnormality	1605	DAG1	ORPHA:899
HP:0012759	Neurodevelopmental abnormality	113189	CHST14	OMIM:601776
HP:0012759	Neurodevelopmental abnormality	22978	NT5C2	ORPHA:320396
HP:0012759	Neurodevelopmental abnormality	22978	NT5C2	OMIM:613162
HP:0012759	Neurodevelopmental abnormality	6566	SLC16A1	OMIM:616095
HP:0012759	Neurodevelopmental abnormality	22983	MAST1	OMIM:618273
HP:0012759	Neurodevelopmental abnormality	6197	RPS6KA3	OMIM:300844
HP:0012759	Neurodevelopmental abnormality	6197	RPS6KA3	OMIM:303600
HP:0012759	Neurodevelopmental abnormality	6197	RPS6KA3	ORPHA:192
HP:0012759	Neurodevelopmental abnormality	23031	MAST3	OMIM:620115
HP:0012759	Neurodevelopmental abnormality	64093	SMOC1	OMIM:206920
HP:0012759	Neurodevelopmental abnormality	118924	FRA10AC1	OMIM:620113
HP:0012759	Neurodevelopmental abnormality	8911	CACNA1I	OMIM:620114
HP:0012759	Neurodevelopmental abnormality	745	MYRF	OMIM:618280
HP:0012759	Neurodevelopmental abnormality	9895	TECPR2	ORPHA:320385
HP:0012759	Neurodevelopmental abnormality	9895	TECPR2	OMIM:615031
HP:0012759	Neurodevelopmental abnormality	57020	VPS35L	OMIM:619135
HP:0012759	Neurodevelopmental abnormality	57020	VPS35L	ORPHA:7
HP:0012759	Neurodevelopmental abnormality	3739	KCNA4	OMIM:618284
HP:0012759	Neurodevelopmental abnormality	4781	NFIB	OMIM:618286
HP:0012759	Neurodevelopmental abnormality	9487	PIGL	OMIM:280000
HP:0012759	Neurodevelopmental abnormality	9487	PIGL	ORPHA:247262
HP:0012759	Neurodevelopmental abnormality	9487	PIGL	ORPHA:3474
HP:0012759	Neurodevelopmental abnormality	383	ARG1	OMIM:207800
HP:0012759	Neurodevelopmental abnormality	23259	DDHD2	ORPHA:320380
HP:0012759	Neurodevelopmental abnormality	23259	DDHD2	OMIM:615033
HP:0012759	Neurodevelopmental abnormality	22800	RRAS2	ORPHA:648
HP:0012759	Neurodevelopmental abnormality	867	CBL	ORPHA:648
HP:0012759	Neurodevelopmental abnormality	8216	LZTR1	ORPHA:648
HP:0012759	Neurodevelopmental abnormality	8216	LZTR1	OMIM:605275
HP:0012759	Neurodevelopmental abnormality	6016	RIT1	ORPHA:648
HP:0012759	Neurodevelopmental abnormality	6016	RIT1	OMIM:615355
HP:0012759	Neurodevelopmental abnormality	6237	RRAS	ORPHA:648
HP:0012759	Neurodevelopmental abnormality	5894	RAF1	ORPHA:648
HP:0012759	Neurodevelopmental abnormality	5894	RAF1	OMIM:611553
HP:0012759	Neurodevelopmental abnormality	22808	MRAS	ORPHA:648
HP:0012759	Neurodevelopmental abnormality	200734	SPRED2	ORPHA:648
HP:0012759	Neurodevelopmental abnormality	4893	NRAS	ORPHA:648
HP:0012759	Neurodevelopmental abnormality	4893	NRAS	OMIM:163200
HP:0012759	Neurodevelopmental abnormality	4893	NRAS	ORPHA:2612
HP:0012759	Neurodevelopmental abnormality	6655	SOS2	ORPHA:648
HP:0012759	Neurodevelopmental abnormality	5922	RASA2	ORPHA:648
HP:0012759	Neurodevelopmental abnormality	79644	SRD5A3	ORPHA:324737
HP:0012759	Neurodevelopmental abnormality	79644	SRD5A3	OMIM:612379
HP:0012759	Neurodevelopmental abnormality	27161	AGO2	OMIM:619149
HP:0012759	Neurodevelopmental abnormality	221692	PHACTR1	OMIM:618298
HP:0012759	Neurodevelopmental abnormality	8517	IKBKG	OMIM:308300
HP:0012759	Neurodevelopmental abnormality	8517	IKBKG	ORPHA:464
HP:0012759	Neurodevelopmental abnormality	2690	GHR	ORPHA:633
HP:0012759	Neurodevelopmental abnormality	11005	SPINK5	ORPHA:634
HP:0012759	Neurodevelopmental abnormality	11198	SUPT16H	ORPHA:261229
HP:0012759	Neurodevelopmental abnormality	11198	SUPT16H	OMIM:619480
HP:0012759	Neurodevelopmental abnormality	57680	CHD8	ORPHA:261229
HP:0012759	Neurodevelopmental abnormality	57680	CHD8	OMIM:615032
HP:0012759	Neurodevelopmental abnormality	4594	MMUT	ORPHA:289916
HP:0012759	Neurodevelopmental abnormality	4594	MMUT	ORPHA:79312
HP:0012759	Neurodevelopmental abnormality	7337	UBE3A	ORPHA:238446
HP:0012759	Neurodevelopmental abnormality	7337	UBE3A	ORPHA:98795
HP:0012759	Neurodevelopmental abnormality	25970	SH2B1	ORPHA:261222
HP:0012759	Neurodevelopmental abnormality	25970	SH2B1	ORPHA:261197
HP:0012759	Neurodevelopmental abnormality	3763	KCNJ6	ORPHA:435628
HP:0012759	Neurodevelopmental abnormality	341640	FREM2	ORPHA:2052
HP:0012759	Neurodevelopmental abnormality	23426	GRIP1	ORPHA:2052
HP:0012759	Neurodevelopmental abnormality	10262	SF3B4	OMIM:154400
HP:0012759	Neurodevelopmental abnormality	23019	CNOT1	OMIM:619033
HP:0012759	Neurodevelopmental abnormality	23556	PIGN	ORPHA:2059
HP:0012759	Neurodevelopmental abnormality	23556	PIGN	OMIM:614080
HP:0012759	Neurodevelopmental abnormality	145173	B3GLCT	ORPHA:709
HP:0012759	Neurodevelopmental abnormality	55325	UFSP2	OMIM:620028
HP:0012759	Neurodevelopmental abnormality	10274	STAG1	ORPHA:502434
HP:0012759	Neurodevelopmental abnormality	10274	STAG1	OMIM:617635
HP:0012759	Neurodevelopmental abnormality	4774	NFIA	OMIM:613735
HP:0012759	Neurodevelopmental abnormality	4774	NFIA	ORPHA:401986
HP:0012759	Neurodevelopmental abnormality	10992	SF3B2	OMIM:164210
HP:0012759	Neurodevelopmental abnormality	8496	PPFIBP1	OMIM:620024
HP:0012759	Neurodevelopmental abnormality	118987	PDZD8	OMIM:620021
HP:0012759	Neurodevelopmental abnormality	1299	COL9A3	OMIM:620022
HP:0012759	Neurodevelopmental abnormality	501	ALDH7A1	OMIM:266100
HP:0012759	Neurodevelopmental abnormality	501	ALDH7A1	ORPHA:3006
HP:0012759	Neurodevelopmental abnormality	49855	SCAPER	OMIM:618195
HP:0012759	Neurodevelopmental abnormality	49855	SCAPER	ORPHA:110
HP:0012759	Neurodevelopmental abnormality	6335	SCN9A	OMIM:243000
HP:0012759	Neurodevelopmental abnormality	10472	ZBTB18	ORPHA:36367
HP:0012759	Neurodevelopmental abnormality	10472	ZBTB18	OMIM:612337
HP:0012759	Neurodevelopmental abnormality	51204	TACO1	OMIM:619052
HP:0012759	Neurodevelopmental abnormality	1137	CHRNA4	OMIM:600513
HP:0012759	Neurodevelopmental abnormality	9739	SETD1A	OMIM:619056
HP:0012759	Neurodevelopmental abnormality	191	AHCY	OMIM:613752
HP:0012759	Neurodevelopmental abnormality	340024	SLC6A19	OMIM:234500
HP:0012759	Neurodevelopmental abnormality	340024	SLC6A19	ORPHA:2116
HP:0012759	Neurodevelopmental abnormality	84823	LMNB2	ORPHA:79087
HP:0012759	Neurodevelopmental abnormality	10000	AKT3	OMIM:615937
HP:0012759	Neurodevelopmental abnormality	23732	FRRS1L	ORPHA:725
HP:0012759	Neurodevelopmental abnormality	10015	PDCD6IP	OMIM:620047
HP:0012759	Neurodevelopmental abnormality	8289	ARID1A	OMIM:614607
HP:0012759	Neurodevelopmental abnormality	6598	SMARCB1	OMIM:614608
HP:0012759	Neurodevelopmental abnormality	6597	SMARCA4	OMIM:614609
HP:0012759	Neurodevelopmental abnormality	259232	NALCN	ORPHA:562528
HP:0012759	Neurodevelopmental abnormality	84334	COA8	OMIM:619061
HP:0012759	Neurodevelopmental abnormality	84334	COA8	ORPHA:436271
HP:0012759	Neurodevelopmental abnormality	4212	MEIS2	OMIM:600987
HP:0012759	Neurodevelopmental abnormality	4212	MEIS2	ORPHA:261190
HP:0012759	Neurodevelopmental abnormality	26053	AUTS2	ORPHA:352490
HP:0012759	Neurodevelopmental abnormality	26053	AUTS2	OMIM:615834
HP:0012759	Neurodevelopmental abnormality	79813	EHMT1	OMIM:610253
HP:0012759	Neurodevelopmental abnormality	79813	EHMT1	ORPHA:261652
HP:0012759	Neurodevelopmental abnormality	79813	EHMT1	ORPHA:96147
HP:0012759	Neurodevelopmental abnormality	10352	WARS2	ORPHA:572798
HP:0012759	Neurodevelopmental abnormality	10352	WARS2	OMIM:617710
HP:0012759	Neurodevelopmental abnormality	10352	WARS2	OMIM:619738
HP:0012759	Neurodevelopmental abnormality	5144	PDE4D	OMIM:614613
HP:0012759	Neurodevelopmental abnormality	5144	PDE4D	ORPHA:439822
HP:0012759	Neurodevelopmental abnormality	5144	PDE4D	ORPHA:950
HP:0012759	Neurodevelopmental abnormality	124512	METTL23	OMIM:615942
HP:0012759	Neurodevelopmental abnormality	657	BMPR1A	ORPHA:79076
HP:0012759	Neurodevelopmental abnormality	10382	TUBB4A	OMIM:612438
HP:0012759	Neurodevelopmental abnormality	5230	PGK1	ORPHA:713
HP:0012759	Neurodevelopmental abnormality	5230	PGK1	OMIM:300653
HP:0012759	Neurodevelopmental abnormality	3265	HRAS	OMIM:218040
HP:0012759	Neurodevelopmental abnormality	3265	HRAS	OMIM:163200
HP:0012759	Neurodevelopmental abnormality	3265	HRAS	ORPHA:2612
HP:0012759	Neurodevelopmental abnormality	3265	HRAS	ORPHA:3071
HP:0012759	Neurodevelopmental abnormality	7490	WT1	OMIM:194072
HP:0012759	Neurodevelopmental abnormality	7490	WT1	ORPHA:893
HP:0012759	Neurodevelopmental abnormality	5091	PC	OMIM:266150
HP:0012759	Neurodevelopmental abnormality	4035	LRP1	OMIM:604093
HP:0012759	Neurodevelopmental abnormality	6660	SOX5	OMIM:616803
HP:0012759	Neurodevelopmental abnormality	6660	SOX5	ORPHA:313892
HP:0012759	Neurodevelopmental abnormality	81031	SLC2A10	ORPHA:3342
HP:0012759	Neurodevelopmental abnormality	81031	SLC2A10	OMIM:208050
HP:0012759	Neurodevelopmental abnormality	22859	ADGRL1	OMIM:620065
HP:0012759	Neurodevelopmental abnormality	83475	DOHH	OMIM:620066
HP:0012759	Neurodevelopmental abnormality	6609	SMPD1	OMIM:257200
HP:0012759	Neurodevelopmental abnormality	6609	SMPD1	ORPHA:77293
HP:0012759	Neurodevelopmental abnormality	92667	MGME1	ORPHA:352447
HP:0012759	Neurodevelopmental abnormality	92667	MGME1	OMIM:615084
HP:0012759	Neurodevelopmental abnormality	58508	KMT2C	ORPHA:261652
HP:0012759	Neurodevelopmental abnormality	58508	KMT2C	OMIM:617768
HP:0012759	Neurodevelopmental abnormality	4089	SMAD4	OMIM:139210
HP:0012759	Neurodevelopmental abnormality	4089	SMAD4	ORPHA:2588
HP:0012759	Neurodevelopmental abnormality	255928	SYT14	ORPHA:284271
HP:0012759	Neurodevelopmental abnormality	554	AVPR2	OMIM:304800
HP:0012759	Neurodevelopmental abnormality	26227	PHGDH	OMIM:601815
HP:0012759	Neurodevelopmental abnormality	1654	DDX3X	ORPHA:3338
HP:0012759	Neurodevelopmental abnormality	1654	DDX3X	OMIM:300958
HP:0012759	Neurodevelopmental abnormality	1654	DDX3X	ORPHA:457260
HP:0012759	Neurodevelopmental abnormality	7443	VRK1	OMIM:607596
HP:0012759	Neurodevelopmental abnormality	2006	ELN	OMIM:194050
HP:0012759	Neurodevelopmental abnormality	2006	ELN	ORPHA:904
HP:0012759	Neurodevelopmental abnormality	51085	MLXIPL	OMIM:194050
HP:0012759	Neurodevelopmental abnormality	3178	HNRNPA1	ORPHA:52430
HP:0012759	Neurodevelopmental abnormality	7415	VCP	ORPHA:52430
HP:0012759	Neurodevelopmental abnormality	3181	HNRNPA2B1	ORPHA:52430
HP:0012759	Neurodevelopmental abnormality	55691	FRMD4A	OMIM:616819
HP:0012759	Neurodevelopmental abnormality	10430	TMEM147	OMIM:620075
HP:0012759	Neurodevelopmental abnormality	3187	HNRNPH1	OMIM:620083
HP:0012759	Neurodevelopmental abnormality	11152	WDR45	OMIM:300894
HP:0012759	Neurodevelopmental abnormality	11152	WDR45	ORPHA:329284
HP:0012759	Neurodevelopmental abnormality	22880	MORC2	OMIM:619090
HP:0012759	Neurodevelopmental abnormality	22880	MORC2	ORPHA:466768
HP:0012759	Neurodevelopmental abnormality	11117	EMILIN1	OMIM:620080
HP:0012759	Neurodevelopmental abnormality	4677	NARS1	OMIM:619091
HP:0012759	Neurodevelopmental abnormality	4677	NARS1	OMIM:619092
HP:0012759	Neurodevelopmental abnormality	64220	STRA6	ORPHA:2470
HP:0012759	Neurodevelopmental abnormality	7477	WNT7B	ORPHA:2470
HP:0012759	Neurodevelopmental abnormality	5915	RARB	ORPHA:2470
HP:0012759	Neurodevelopmental abnormality	5915	RARB	OMIM:615524
HP:0012759	Neurodevelopmental abnormality	7355	SLC35A2	OMIM:300896
HP:0012759	Neurodevelopmental abnormality	7355	SLC35A2	ORPHA:356961
HP:0012759	Neurodevelopmental abnormality	4488	MSX2	ORPHA:60015
HP:0012759	Neurodevelopmental abnormality	4488	MSX2	OMIM:604757
HP:0012759	Neurodevelopmental abnormality	9147	NEMF	OMIM:619099
HP:0012759	Neurodevelopmental abnormality	8195	MKKS	ORPHA:2473
HP:0012759	Neurodevelopmental abnormality	8195	MKKS	ORPHA:110
HP:0012759	Neurodevelopmental abnormality	8195	MKKS	OMIM:605231
HP:0012759	Neurodevelopmental abnormality	79791	FBXO31	OMIM:615979
HP:0012759	Neurodevelopmental abnormality	3954	LETM1	OMIM:620089
HP:0012759	Neurodevelopmental abnormality	51750	RTEL1	ORPHA:3322
HP:0012759	Neurodevelopmental abnormality	65057	ACD	ORPHA:3322
HP:0012759	Neurodevelopmental abnormality	5073	PARN	ORPHA:3322
HP:0012759	Neurodevelopmental abnormality	7015	TERT	ORPHA:3322
HP:0012759	Neurodevelopmental abnormality	26277	TINF2	ORPHA:3322
HP:0012759	Neurodevelopmental abnormality	1736	DKC1	ORPHA:3322
HP:0012759	Neurodevelopmental abnormality	1736	DKC1	OMIM:305000
HP:0012759	Neurodevelopmental abnormality	84978	FRMD5	OMIM:620094
HP:0012759	Neurodevelopmental abnormality	23636	NUP62	OMIM:271930
HP:0012759	Neurodevelopmental abnormality	54413	NLGN3	OMIM:300425
HP:0012759	Neurodevelopmental abnormality	10159	ATP6AP2	OMIM:300423
HP:0012759	Neurodevelopmental abnormality	10159	ATP6AP2	ORPHA:93952
HP:0012759	Neurodevelopmental abnormality	113612	CYP2U1	ORPHA:320411
HP:0012759	Neurodevelopmental abnormality	113612	CYP2U1	OMIM:615030
HP:0012759	Neurodevelopmental abnormality	583	BBS2	OMIM:615981
HP:0012759	Neurodevelopmental abnormality	583	BBS2	ORPHA:110
HP:0012759	Neurodevelopmental abnormality	55212	BBS7	OMIM:615984
HP:0012759	Neurodevelopmental abnormality	55212	BBS7	ORPHA:110
HP:0012759	Neurodevelopmental abnormality	2703	GJA8	OMIM:612474
HP:0012759	Neurodevelopmental abnormality	2702	GJA5	OMIM:612474
HP:0012759	Neurodevelopmental abnormality	123016	TTC8	OMIM:615985
HP:0012759	Neurodevelopmental abnormality	123016	TTC8	ORPHA:110
HP:0012759	Neurodevelopmental abnormality	585	BBS4	OMIM:615982
HP:0012759	Neurodevelopmental abnormality	585	BBS4	ORPHA:110
HP:0012759	Neurodevelopmental abnormality	55690	PACS1	ORPHA:329224
HP:0012759	Neurodevelopmental abnormality	55690	PACS1	OMIM:615009
HP:0012759	Neurodevelopmental abnormality	51053	GMNN	OMIM:616835
HP:0012759	Neurodevelopmental abnormality	51053	GMNN	ORPHA:2554
HP:0012759	Neurodevelopmental abnormality	10664	CTCF	OMIM:615502
HP:0012759	Neurodevelopmental abnormality	10664	CTCF	ORPHA:363611
HP:0012759	Neurodevelopmental abnormality	27241	BBS9	OMIM:615986
HP:0012759	Neurodevelopmental abnormality	27241	BBS9	ORPHA:110
HP:0012759	Neurodevelopmental abnormality	6497	SKI	ORPHA:2462
HP:0012759	Neurodevelopmental abnormality	6497	SKI	ORPHA:1606
HP:0012759	Neurodevelopmental abnormality	6497	SKI	OMIM:182212
HP:0012759	Neurodevelopmental abnormality	3720	JARID2	OMIM:620098
HP:0012759	Neurodevelopmental abnormality	6938	TCF12	ORPHA:35099
HP:0012759	Neurodevelopmental abnormality	6938	TCF12	OMIM:619718
HP:0012759	Neurodevelopmental abnormality	91147	TMEM67	OMIM:615991
HP:0012759	Neurodevelopmental abnormality	91147	TMEM67	OMIM:610688
HP:0012759	Neurodevelopmental abnormality	91147	TMEM67	ORPHA:475
HP:0012759	Neurodevelopmental abnormality	6683	SPAST	ORPHA:100985
HP:0012759	Neurodevelopmental abnormality	6683	SPAST	OMIM:182601
HP:0012759	Neurodevelopmental abnormality	5193	PEX12	OMIM:266510
HP:0012759	Neurodevelopmental abnormality	92482	BBIP1	OMIM:615995
HP:0012759	Neurodevelopmental abnormality	92482	BBIP1	ORPHA:110
HP:0012759	Neurodevelopmental abnormality	11020	IFT27	OMIM:615996
HP:0012759	Neurodevelopmental abnormality	11020	IFT27	ORPHA:110
HP:0012759	Neurodevelopmental abnormality	10806	SDCCAG8	OMIM:615993
HP:0012759	Neurodevelopmental abnormality	10806	SDCCAG8	ORPHA:110
HP:0012759	Neurodevelopmental abnormality	29926	GMPPA	OMIM:615510
HP:0012759	Neurodevelopmental abnormality	29926	GMPPA	ORPHA:869
HP:0012759	Neurodevelopmental abnormality	54585	LZTFL1	OMIM:615994
HP:0012759	Neurodevelopmental abnormality	54585	LZTFL1	ORPHA:110
HP:0012759	Neurodevelopmental abnormality	22845	DOLK	ORPHA:91131
HP:0012759	Neurodevelopmental abnormality	411	ARSB	OMIM:253200
HP:0012759	Neurodevelopmental abnormality	57511	COG6	ORPHA:363523
HP:0012759	Neurodevelopmental abnormality	57511	COG6	OMIM:614576
HP:0012759	Neurodevelopmental abnormality	57511	COG6	OMIM:615328
HP:0012759	Neurodevelopmental abnormality	91179	SCARF2	OMIM:600920
HP:0012759	Neurodevelopmental abnormality	80207	OPA3	ORPHA:67047
HP:0012759	Neurodevelopmental abnormality	125988	MICOS13	ORPHA:67047
HP:0012759	Neurodevelopmental abnormality	56997	COQ8A	OMIM:612016
HP:0012759	Neurodevelopmental abnormality	3920	LAMP2	ORPHA:34587
HP:0012759	Neurodevelopmental abnormality	3920	LAMP2	OMIM:300257
HP:0012759	Neurodevelopmental abnormality	26224	FBXL3	OMIM:606220
HP:0012759	Neurodevelopmental abnormality	4204	MECP2	OMIM:300055
HP:0012759	Neurodevelopmental abnormality	4204	MECP2	OMIM:300496
HP:0012759	Neurodevelopmental abnormality	4204	MECP2	ORPHA:3095
HP:0012759	Neurodevelopmental abnormality	10265	IRX5	OMIM:611174
HP:0012759	Neurodevelopmental abnormality	11253	MAN1B1	OMIM:614202
HP:0012759	Neurodevelopmental abnormality	11253	MAN1B1	ORPHA:397941
HP:0012759	Neurodevelopmental abnormality	10841	FTCD	OMIM:229100
HP:0012759	Neurodevelopmental abnormality	5925	RB1	ORPHA:1587
HP:0012759	Neurodevelopmental abnormality	7874	USP7	OMIM:616863
HP:0012759	Neurodevelopmental abnormality	7874	USP7	ORPHA:500055
HP:0012759	Neurodevelopmental abnormality	29940	DSE	OMIM:615539
HP:0012759	Neurodevelopmental abnormality	1641	DCX	OMIM:300067
HP:0012759	Neurodevelopmental abnormality	1105	CHD1	ORPHA:529965
HP:0012759	Neurodevelopmental abnormality	1105	CHD1	OMIM:617682
HP:0012759	Neurodevelopmental abnormality	3758	KCNJ1	OMIM:241200
HP:0012759	Neurodevelopmental abnormality	547	KIF1A	OMIM:614213
HP:0012759	Neurodevelopmental abnormality	547	KIF1A	OMIM:614255
HP:0012759	Neurodevelopmental abnormality	23065	EMC1	OMIM:616875
HP:0012759	Neurodevelopmental abnormality	8884	SLC5A6	OMIM:619903
HP:0012759	Neurodevelopmental abnormality	128989	TANGO2	OMIM:616878
HP:0012759	Neurodevelopmental abnormality	128989	TANGO2	ORPHA:480864
HP:0012759	Neurodevelopmental abnormality	79633	FAT4	OMIM:615546
HP:0012759	Neurodevelopmental abnormality	79633	FAT4	ORPHA:2136
HP:0012759	Neurodevelopmental abnormality	55644	OSGEP	OMIM:617729
HP:0012759	Neurodevelopmental abnormality	4644	MYO5A	ORPHA:79476
HP:0012759	Neurodevelopmental abnormality	4644	MYO5A	ORPHA:33445
HP:0012759	Neurodevelopmental abnormality	4644	MYO5A	OMIM:214450
HP:0012759	Neurodevelopmental abnormality	7074	TIAM1	OMIM:619908
HP:0012759	Neurodevelopmental abnormality	8200	GDF5	OMIM:200700
HP:0012759	Neurodevelopmental abnormality	340075	ARSI	ORPHA:401815
HP:0012759	Neurodevelopmental abnormality	112858	TP53RK	OMIM:617730
HP:0012759	Neurodevelopmental abnormality	23443	SLC35A3	OMIM:615553
HP:0012759	Neurodevelopmental abnormality	51002	TPRKB	OMIM:617731
HP:0012759	Neurodevelopmental abnormality	490	ATP2B1	OMIM:619910
HP:0012759	Neurodevelopmental abnormality	5293	PIK3CD	ORPHA:221139
HP:0012759	Neurodevelopmental abnormality	90417	KNSTRN	ORPHA:221139
HP:0012759	Neurodevelopmental abnormality	6925	TCF4	ORPHA:2896
HP:0012759	Neurodevelopmental abnormality	6857	SYT1	ORPHA:522077
HP:0012759	Neurodevelopmental abnormality	6608	SMO	ORPHA:1553
HP:0012759	Neurodevelopmental abnormality	2890	GRIA1	OMIM:619927
HP:0012759	Neurodevelopmental abnormality	54805	CNNM2	OMIM:616418
HP:0012759	Neurodevelopmental abnormality	2068	ERCC2	ORPHA:220295
HP:0012759	Neurodevelopmental abnormality	2068	ERCC2	OMIM:601675
HP:0012759	Neurodevelopmental abnormality	2068	ERCC2	OMIM:278730
HP:0012759	Neurodevelopmental abnormality	2073	ERCC5	ORPHA:220295
HP:0012759	Neurodevelopmental abnormality	2071	ERCC3	ORPHA:220295
HP:0012759	Neurodevelopmental abnormality	2071	ERCC3	OMIM:616390
HP:0012759	Neurodevelopmental abnormality	2071	ERCC3	OMIM:610651
HP:0012759	Neurodevelopmental abnormality	55164	SHQ1	OMIM:619921
HP:0012759	Neurodevelopmental abnormality	6591	SNAI2	ORPHA:2884
HP:0012759	Neurodevelopmental abnormality	3815	KIT	ORPHA:2884
HP:0012759	Neurodevelopmental abnormality	8241	RBM10	ORPHA:2886
HP:0012759	Neurodevelopmental abnormality	9320	TRIP12	OMIM:617752
HP:0012759	Neurodevelopmental abnormality	5879	RAC1	OMIM:617751
HP:0012759	Neurodevelopmental abnormality	5879	RAC1	ORPHA:500159
HP:0012759	Neurodevelopmental abnormality	5538	PPT1	OMIM:256730
HP:0012759	Neurodevelopmental abnormality	1663	DDX11	OMIM:613398
HP:0012759	Neurodevelopmental abnormality	5455	POU3F3	OMIM:618604
HP:0012759	Neurodevelopmental abnormality	2186	BPTF	OMIM:617755
HP:0012759	Neurodevelopmental abnormality	1203	CLN5	OMIM:256731
HP:0012759	Neurodevelopmental abnormality	2990	GUSB	OMIM:253220
HP:0012759	Neurodevelopmental abnormality	2990	GUSB	ORPHA:584
HP:0012759	Neurodevelopmental abnormality	9439	MED23	OMIM:614249
HP:0012759	Neurodevelopmental abnormality	9907	AP5Z1	ORPHA:306511
HP:0012759	Neurodevelopmental abnormality	9907	AP5Z1	OMIM:613647
HP:0012759	Neurodevelopmental abnormality	3034	HAL	OMIM:235800
HP:0012759	Neurodevelopmental abnormality	10082	GPC6	ORPHA:93329
HP:0012759	Neurodevelopmental abnormality	406932	MIR140	OMIM:618618
HP:0012759	Neurodevelopmental abnormality	776	CACNA1D	OMIM:615474
HP:0012759	Neurodevelopmental abnormality	6659	SOX4	OMIM:618506
HP:0012759	Neurodevelopmental abnormality	55823	VPS11	ORPHA:466934
HP:0012759	Neurodevelopmental abnormality	55823	VPS11	OMIM:616683
HP:0012759	Neurodevelopmental abnormality	4897	NRCAM	OMIM:619833
HP:0012759	Neurodevelopmental abnormality	5927	KDM5A	OMIM:620820
HP:0012759	Neurodevelopmental abnormality	91801	ALKBH8	OMIM:618504
HP:0012759	Neurodevelopmental abnormality	4125	MAN2B1	ORPHA:309282
HP:0012759	Neurodevelopmental abnormality	4125	MAN2B1	OMIM:248500
HP:0012759	Neurodevelopmental abnormality	23498	HAAO	OMIM:617660
HP:0012759	Neurodevelopmental abnormality	24137	KIF4A	OMIM:300923
HP:0012759	Neurodevelopmental abnormality	9578	CDC42BPB	OMIM:619841
HP:0012759	Neurodevelopmental abnormality	80816	ASXL3	OMIM:615485
HP:0012759	Neurodevelopmental abnormality	80816	ASXL3	ORPHA:352577
HP:0012759	Neurodevelopmental abnormality	64412	GZF1	OMIM:617662
HP:0012759	Neurodevelopmental abnormality	57582	KCNT1	OMIM:615005
HP:0012759	Neurodevelopmental abnormality	1841	DTYMK	OMIM:619847
HP:0012759	Neurodevelopmental abnormality	8239	USP9X	OMIM:300919
HP:0012759	Neurodevelopmental abnormality	8239	USP9X	OMIM:300968
HP:0012759	Neurodevelopmental abnormality	3149	HMGB3	OMIM:300915
HP:0012759	Neurodevelopmental abnormality	57082	KNL1	OMIM:604321
HP:0012759	Neurodevelopmental abnormality	55636	CHD7	ORPHA:138
HP:0012759	Neurodevelopmental abnormality	55636	CHD7	OMIM:214800
HP:0012759	Neurodevelopmental abnormality	9723	SEMA3E	ORPHA:138
HP:0012759	Neurodevelopmental abnormality	55650	PIGV	OMIM:239300
HP:0012759	Neurodevelopmental abnormality	55650	PIGV	ORPHA:247262
HP:0012759	Neurodevelopmental abnormality	284403	WDR62	OMIM:604317
HP:0012759	Neurodevelopmental abnormality	288	ANK3	OMIM:615493
HP:0012759	Neurodevelopmental abnormality	7345	UCHL1	OMIM:615491
HP:0012759	Neurodevelopmental abnormality	64834	ELOVL1	OMIM:618527
HP:0012759	Neurodevelopmental abnormality	2770	GNAI1	OMIM:619854
HP:0012759	Neurodevelopmental abnormality	79140	CCDC28B	OMIM:209900
HP:0012759	Neurodevelopmental abnormality	582	BBS1	OMIM:209900
HP:0012759	Neurodevelopmental abnormality	582	BBS1	ORPHA:110
HP:0012759	Neurodevelopmental abnormality	23347	SMCHD1	OMIM:603457
HP:0012759	Neurodevelopmental abnormality	10087	CERT1	OMIM:616351
HP:0012759	Neurodevelopmental abnormality	5528	PPP2R5D	OMIM:616355
HP:0012759	Neurodevelopmental abnormality	57231	SNX14	OMIM:616354
HP:0012759	Neurodevelopmental abnormality	23327	NEDD4L	OMIM:617201
HP:0012759	Neurodevelopmental abnormality	1428	CRYM	OMIM:616357
HP:0012759	Neurodevelopmental abnormality	1201	CLN3	OMIM:204200
HP:0012759	Neurodevelopmental abnormality	11193	WBP4	OMIM:620852
HP:0012759	Neurodevelopmental abnormality	23007	PLCH1	ORPHA:93925
HP:0012759	Neurodevelopmental abnormality	4929	NR4A2	ORPHA:1617
HP:0012759	Neurodevelopmental abnormality	4929	NR4A2	ORPHA:98808
HP:0012759	Neurodevelopmental abnormality	10716	TBR1	ORPHA:1617
HP:0012759	Neurodevelopmental abnormality	26834	RNU4-2	OMIM:620851
HP:0012759	Neurodevelopmental abnormality	51057	WDPCP	ORPHA:110
HP:0012759	Neurodevelopmental abnormality	132320	SCLT1	ORPHA:110
HP:0012759	Neurodevelopmental abnormality	84984	CEP19	ORPHA:110
HP:0012759	Neurodevelopmental abnormality	84984	CEP19	OMIM:615703
HP:0012759	Neurodevelopmental abnormality	22954	TRIM32	ORPHA:110
HP:0012759	Neurodevelopmental abnormality	79738	BBS10	ORPHA:110
HP:0012759	Neurodevelopmental abnormality	166379	BBS12	ORPHA:110
HP:0012759	Neurodevelopmental abnormality	157657	CFAP418	ORPHA:110
HP:0012759	Neurodevelopmental abnormality	129880	BBS5	ORPHA:110
HP:0012759	Neurodevelopmental abnormality	5518	PPP2R1A	OMIM:616362
HP:0012759	Neurodevelopmental abnormality	5518	PPP2R1A	ORPHA:457284
HP:0012759	Neurodevelopmental abnormality	26038	CHD5	OMIM:619873
HP:0012759	Neurodevelopmental abnormality	91574	MTRFR	OMIM:615035
HP:0012759	Neurodevelopmental abnormality	23126	POGZ	OMIM:616364
HP:0012759	Neurodevelopmental abnormality	23126	POGZ	ORPHA:468678
HP:0012759	Neurodevelopmental abnormality	8558	CDK10	OMIM:617694
HP:0012759	Neurodevelopmental abnormality	51692	CPSF3	OMIM:619876
HP:0012759	Neurodevelopmental abnormality	3098	HK1	OMIM:618547
HP:0012759	Neurodevelopmental abnormality	5590	PRKCZ	ORPHA:1606
HP:0012759	Neurodevelopmental abnormality	23013	SPEN	ORPHA:1606
HP:0012759	Neurodevelopmental abnormality	23013	SPEN	OMIM:619312
HP:0012759	Neurodevelopmental abnormality	8510	MMP23B	ORPHA:1606
HP:0012759	Neurodevelopmental abnormality	7798	LUZP1	ORPHA:1606
HP:0012759	Neurodevelopmental abnormality	10630	PDPN	ORPHA:1606
HP:0012759	Neurodevelopmental abnormality	10277	UBE4B	ORPHA:1606
HP:0012759	Neurodevelopmental abnormality	8514	KCNAB2	ORPHA:1606
HP:0012759	Neurodevelopmental abnormality	63976	PRDM16	ORPHA:1606
HP:0012759	Neurodevelopmental abnormality	54897	CASZ1	ORPHA:1606
HP:0012759	Neurodevelopmental abnormality	1859	DYRK1A	ORPHA:464311
HP:0012759	Neurodevelopmental abnormality	1859	DYRK1A	ORPHA:268261
HP:0012759	Neurodevelopmental abnormality	285362	SUMF1	ORPHA:585
HP:0012759	Neurodevelopmental abnormality	285362	SUMF1	OMIM:272200
HP:0012759	Neurodevelopmental abnormality	55210	ATAD3A	ORPHA:496790
HP:0012759	Neurodevelopmental abnormality	55210	ATAD3A	OMIM:617183
HP:0012759	Neurodevelopmental abnormality	9276	COPB2	OMIM:619884
HP:0012759	Neurodevelopmental abnormality	83479	DDX59	ORPHA:2919
HP:0012759	Neurodevelopmental abnormality	83479	DDX59	OMIM:174300
HP:0012759	Neurodevelopmental abnormality	56098	PCDHGC4	OMIM:619880
HP:0012759	Neurodevelopmental abnormality	10531	PITRM1	OMIM:619405
HP:0012759	Neurodevelopmental abnormality	57192	MCOLN1	ORPHA:578
HP:0012759	Neurodevelopmental abnormality	57192	MCOLN1	OMIM:252650
HP:0012759	Neurodevelopmental abnormality	1749	DLX5	OMIM:183600
HP:0012759	Neurodevelopmental abnormality	64919	BCL11B	OMIM:617237
HP:0012759	Neurodevelopmental abnormality	64919	BCL11B	OMIM:618092
HP:0012759	Neurodevelopmental abnormality	2720	GLB1	OMIM:230500
HP:0012759	Neurodevelopmental abnormality	2720	GLB1	OMIM:253010
HP:0012759	Neurodevelopmental abnormality	2720	GLB1	ORPHA:79255
HP:0012759	Neurodevelopmental abnormality	374969	SVBP	OMIM:618569
HP:0012759	Neurodevelopmental abnormality	84295	PHF6	ORPHA:127
HP:0012759	Neurodevelopmental abnormality	617	BCS1L	ORPHA:123
HP:0012759	Neurodevelopmental abnormality	617	BCS1L	OMIM:262000
HP:0012759	Neurodevelopmental abnormality	617	BCS1L	OMIM:124000
HP:0012759	Neurodevelopmental abnormality	404672	GTF2H5	OMIM:616395
HP:0012759	Neurodevelopmental abnormality	171546	SPTSSA	OMIM:620416
HP:0012759	Neurodevelopmental abnormality	171546	SPTSSA	OMIM:620417
HP:0012759	Neurodevelopmental abnormality	7227	TRPS1	OMIM:190350
HP:0012759	Neurodevelopmental abnormality	7227	TRPS1	OMIM:190351
HP:0012759	Neurodevelopmental abnormality	7227	TRPS1	ORPHA:502
HP:0012759	Neurodevelopmental abnormality	7046	TGFBR1	OMIM:609192
HP:0012759	Neurodevelopmental abnormality	1642	DDB1	OMIM:619426
HP:0012759	Neurodevelopmental abnormality	389827	MYMK	OMIM:254940
HP:0012759	Neurodevelopmental abnormality	389827	MYMK	ORPHA:1358
HP:0012759	Neurodevelopmental abnormality	4126	MANBA	ORPHA:118
HP:0012759	Neurodevelopmental abnormality	4126	MANBA	OMIM:248510
HP:0012759	Neurodevelopmental abnormality	410	ARSA	OMIM:250100
HP:0012759	Neurodevelopmental abnormality	9949	AMMECR1	OMIM:300990
HP:0012759	Neurodevelopmental abnormality	9361	LONP1	OMIM:600373
HP:0012759	Neurodevelopmental abnormality	22827	PUF60	ORPHA:508498
HP:0012759	Neurodevelopmental abnormality	6134	RPL10	OMIM:300998
HP:0012759	Neurodevelopmental abnormality	160418	TMTC3	OMIM:617255
HP:0012759	Neurodevelopmental abnormality	123606	NIPA1	ORPHA:261183
HP:0012759	Neurodevelopmental abnormality	7283	TUBG1	ORPHA:261183
HP:0012759	Neurodevelopmental abnormality	81614	NIPA2	ORPHA:261183
HP:0012759	Neurodevelopmental abnormality	8473	OGT	OMIM:300997
HP:0012759	Neurodevelopmental abnormality	53371	NUP54	OMIM:620427
HP:0012759	Neurodevelopmental abnormality	6418	SET	OMIM:618106
HP:0012759	Neurodevelopmental abnormality	5309	PITX3	OMIM:610623
HP:0012759	Neurodevelopmental abnormality	1120	CHKB	OMIM:602541
HP:0012759	Neurodevelopmental abnormality	7707	ZNF148	OMIM:617260
HP:0012759	Neurodevelopmental abnormality	6299	SALL1	OMIM:107480
HP:0012759	Neurodevelopmental abnormality	6299	SALL1	ORPHA:857
HP:0012759	Neurodevelopmental abnormality	10300	KATNB1	ORPHA:89844
HP:0012759	Neurodevelopmental abnormality	54820	NDE1	ORPHA:89844
HP:0012759	Neurodevelopmental abnormality	57520	HECW2	OMIM:617268
HP:0012759	Neurodevelopmental abnormality	5053	PAH	OMIM:261600
HP:0012759	Neurodevelopmental abnormality	5053	PAH	ORPHA:2209
HP:0012759	Neurodevelopmental abnormality	4952	OCRL	ORPHA:534
HP:0012759	Neurodevelopmental abnormality	4952	OCRL	OMIM:309000
HP:0012759	Neurodevelopmental abnormality	55249	YY1AP1	OMIM:602531
HP:0012759	Neurodevelopmental abnormality	147409	DSG4	ORPHA:573
HP:0012759	Neurodevelopmental abnormality	3892	KRT86	ORPHA:573
HP:0012759	Neurodevelopmental abnormality	3889	KRT83	ORPHA:573
HP:0012759	Neurodevelopmental abnormality	3887	KRT81	ORPHA:573
HP:0012759	Neurodevelopmental abnormality	55250	ELP2	OMIM:617270
HP:0012759	Neurodevelopmental abnormality	3039	HBA1	ORPHA:98791
HP:0012759	Neurodevelopmental abnormality	3040	HBA2	ORPHA:98791
HP:0012759	Neurodevelopmental abnormality	8888	MCM3AP	OMIM:618124
HP:0012759	Neurodevelopmental abnormality	51132	RLIM	OMIM:300978
HP:0012759	Neurodevelopmental abnormality	27341	RRP7A	OMIM:619453
HP:0012759	Neurodevelopmental abnormality	361	AQP4	OMIM:620448
HP:0012759	Neurodevelopmental abnormality	3376	IARS1	ORPHA:541423
HP:0012759	Neurodevelopmental abnormality	3376	IARS1	OMIM:617093
HP:0012759	Neurodevelopmental abnormality	9675	TTI1	OMIM:620445
HP:0012759	Neurodevelopmental abnormality	1312	COMT	ORPHA:567
HP:0012759	Neurodevelopmental abnormality	221037	JMJD1C	ORPHA:567
HP:0012759	Neurodevelopmental abnormality	2812	GP1BB	ORPHA:567
HP:0012759	Neurodevelopmental abnormality	6239	RREB1	ORPHA:567
HP:0012759	Neurodevelopmental abnormality	6899	TBX1	ORPHA:567
HP:0012759	Neurodevelopmental abnormality	6899	TBX1	ORPHA:1727
HP:0012759	Neurodevelopmental abnormality	6899	TBX1	OMIM:192430
HP:0012759	Neurodevelopmental abnormality	6899	TBX1	OMIM:188400
HP:0012759	Neurodevelopmental abnormality	7290	HIRA	ORPHA:567
HP:0012759	Neurodevelopmental abnormality	9632	SEC24C	ORPHA:567
HP:0012759	Neurodevelopmental abnormality	7353	UFD1	ORPHA:567
HP:0012759	Neurodevelopmental abnormality	421	ARVCF	ORPHA:567
HP:0012759	Neurodevelopmental abnormality	1009	CDH11	OMIM:211380
HP:0012759	Neurodevelopmental abnormality	1009	CDH11	OMIM:619736
HP:0012759	Neurodevelopmental abnormality	5077	PAX3	OMIM:148820
HP:0012759	Neurodevelopmental abnormality	5077	PAX3	ORPHA:896
HP:0012759	Neurodevelopmental abnormality	8260	NAA10	ORPHA:568
HP:0012759	Neurodevelopmental abnormality	8260	NAA10	OMIM:309800
HP:0012759	Neurodevelopmental abnormality	538	ATP7A	ORPHA:565
HP:0012759	Neurodevelopmental abnormality	538	ATP7A	ORPHA:198
HP:0012759	Neurodevelopmental abnormality	538	ATP7A	OMIM:309400
HP:0012759	Neurodevelopmental abnormality	80311	KLHL15	OMIM:300982
HP:0012759	Neurodevelopmental abnormality	6557	SLC12A1	OMIM:601678
HP:0012759	Neurodevelopmental abnormality	7809	BSND	OMIM:602522
HP:0012759	Neurodevelopmental abnormality	84892	POMGNT2	OMIM:618135
HP:0012759	Neurodevelopmental abnormality	84892	POMGNT2	ORPHA:899
HP:0012759	Neurodevelopmental abnormality	9758	FRMPD4	OMIM:300983
HP:0012759	Neurodevelopmental abnormality	389856	USP27X	OMIM:300984
HP:0012759	Neurodevelopmental abnormality	3188	HNRNPH2	OMIM:300986
HP:0012759	Neurodevelopmental abnormality	7253	TSHR	OMIM:609152
HP:0012759	Neurodevelopmental abnormality	38	ACAT1	OMIM:203750
HP:0012759	Neurodevelopmental abnormality	1974	EIF4A2	OMIM:620455
HP:0012759	Neurodevelopmental abnormality	4548	MTR	OMIM:250940
HP:0012759	Neurodevelopmental abnormality	6874	TAF4	OMIM:620450
HP:0012759	Neurodevelopmental abnormality	79736	TEFM	OMIM:620451
HP:0012759	Neurodevelopmental abnormality	11212	PLPBP	OMIM:617290
HP:0012759	Neurodevelopmental abnormality	11212	PLPBP	ORPHA:3006
HP:0012759	Neurodevelopmental abnormality	57498	KIDINS220	OMIM:617296
HP:0012759	Neurodevelopmental abnormality	57498	KIDINS220	ORPHA:521390
HP:0012759	Neurodevelopmental abnormality	57187	THOC2	OMIM:300957
HP:0012759	Neurodevelopmental abnormality	10526	IPO8	OMIM:619472
HP:0012759	Neurodevelopmental abnormality	55505	NOP10	OMIM:224230
HP:0012759	Neurodevelopmental abnormality	55651	NHP2	OMIM:224230
HP:0012759	Neurodevelopmental abnormality	55651	NHP2	OMIM:613987
HP:0012759	Neurodevelopmental abnormality	6711	SPTBN1	OMIM:619475
HP:0012759	Neurodevelopmental abnormality	527	ATP6V0C	OMIM:620465
HP:0012759	Neurodevelopmental abnormality	2317	FLNB	ORPHA:503
HP:0012759	Neurodevelopmental abnormality	2317	FLNB	OMIM:150250
HP:0012759	Neurodevelopmental abnormality	2131	EXT1	ORPHA:502
HP:0012759	Neurodevelopmental abnormality	5885	RAD21	ORPHA:502
HP:0012759	Neurodevelopmental abnormality	5885	RAD21	ORPHA:199
HP:0012759	Neurodevelopmental abnormality	405753	DUOXA2	OMIM:274900
HP:0012759	Neurodevelopmental abnormality	405753	DUOXA2	ORPHA:95716
HP:0012759	Neurodevelopmental abnormality	10682	EBP	OMIM:300960
HP:0012759	Neurodevelopmental abnormality	10682	EBP	ORPHA:401973
HP:0012759	Neurodevelopmental abnormality	136647	MPLKIP	OMIM:234050
HP:0012759	Neurodevelopmental abnormality	6872	TAF1	OMIM:300966
HP:0012759	Neurodevelopmental abnormality	6872	TAF1	ORPHA:480907
HP:0012759	Neurodevelopmental abnormality	374879	ZNF699	OMIM:619488
HP:0012759	Neurodevelopmental abnormality	4841	NONO	OMIM:300967
HP:0012759	Neurodevelopmental abnormality	8567	MADD	OMIM:619005
HP:0012759	Neurodevelopmental abnormality	28952	CCDC22	OMIM:300963
HP:0012759	Neurodevelopmental abnormality	28952	CCDC22	ORPHA:7
HP:0012759	Neurodevelopmental abnormality	79152	FA2H	ORPHA:171629
HP:0012759	Neurodevelopmental abnormality	79152	FA2H	OMIM:612319
HP:0012759	Neurodevelopmental abnormality	9373	PLAA	ORPHA:521426
HP:0012759	Neurodevelopmental abnormality	50485	SMARCAL1	OMIM:242900
HP:0012759	Neurodevelopmental abnormality	3516	RBPJ	ORPHA:974
HP:0012759	Neurodevelopmental abnormality	4851	NOTCH1	ORPHA:974
HP:0012759	Neurodevelopmental abnormality	57514	ARHGAP31	ORPHA:974
HP:0012759	Neurodevelopmental abnormality	57514	ARHGAP31	OMIM:100300
HP:0012759	Neurodevelopmental abnormality	57572	DOCK6	ORPHA:974
HP:0012759	Neurodevelopmental abnormality	285203	EOGT	ORPHA:974
HP:0012759	Neurodevelopmental abnormality	54567	DLL4	ORPHA:974
HP:0012759	Neurodevelopmental abnormality	407975	MIR17HG	ORPHA:391646
HP:0012759	Neurodevelopmental abnormality	26278	SACS	OMIM:270550
HP:0012759	Neurodevelopmental abnormality	80267	EDEM3	OMIM:619493
HP:0012759	Neurodevelopmental abnormality	2629	GBA1	ORPHA:2072
HP:0012759	Neurodevelopmental abnormality	84231	TRAF7	OMIM:618164
HP:0012759	Neurodevelopmental abnormality	7157	TP53	OMIM:618165
HP:0012759	Neurodevelopmental abnormality	10491	CRTAP	OMIM:610682
HP:0012759	Neurodevelopmental abnormality	203190	LGI3	OMIM:620007
HP:0012759	Neurodevelopmental abnormality	11043	MID2	OMIM:300928
HP:0012759	Neurodevelopmental abnormality	5468	PPARG	ORPHA:528
HP:0012759	Neurodevelopmental abnormality	284119	CAVIN1	ORPHA:528
HP:0012759	Neurodevelopmental abnormality	26580	BSCL2	ORPHA:528
HP:0012759	Neurodevelopmental abnormality	2353	FOS	ORPHA:528
HP:0012759	Neurodevelopmental abnormality	857	CAV1	ORPHA:528
HP:0012759	Neurodevelopmental abnormality	5498	PPOX	OMIM:620483
HP:0012759	Neurodevelopmental abnormality	5524	PTPA	OMIM:620482
HP:0012759	Neurodevelopmental abnormality	9897	WASHC5	ORPHA:7
HP:0012759	Neurodevelopmental abnormality	56896	DPYSL5	ORPHA:7
HP:0012759	Neurodevelopmental abnormality	3030	HADHA	ORPHA:5
HP:0012759	Neurodevelopmental abnormality	114034	TOE1	ORPHA:284339
HP:0012759	Neurodevelopmental abnormality	114034	TOE1	OMIM:614969
HP:0012759	Neurodevelopmental abnormality	9562	MINPP1	ORPHA:284339
HP:0012759	Neurodevelopmental abnormality	84842	HPDL	OMIM:619026
HP:0012759	Neurodevelopmental abnormality	79023	NUP37	OMIM:618179
HP:0012759	Neurodevelopmental abnormality	118429	ANTXR2	OMIM:228600
HP:0012759	Neurodevelopmental abnormality	25793	FBXO7	OMIM:260300
HP:0012759	Neurodevelopmental abnormality	55294	FBXW7	OMIM:620012
HP:0012759	Neurodevelopmental abnormality	9898	UBAP2L	OMIM:620494
HP:0012759	Neurodevelopmental abnormality	55129	ANO10	OMIM:613728
HP:0012759	Neurodevelopmental abnormality	6095	RORA	OMIM:618060
HP:0012759	Neurodevelopmental abnormality	5009	OTC	OMIM:311250
HP:0012759	Neurodevelopmental abnormality	57539	WDR35	OMIM:613610
HP:0012759	Neurodevelopmental abnormality	10466	COG5	OMIM:613612
HP:0012759	Neurodevelopmental abnormality	80232	WDR26	ORPHA:513456
HP:0012759	Neurodevelopmental abnormality	80232	WDR26	OMIM:617616
HP:0012759	Neurodevelopmental abnormality	51506	UFC1	OMIM:618076
HP:0012759	Neurodevelopmental abnormality	63916	ELMO2	ORPHA:3019
HP:0012759	Neurodevelopmental abnormality	4552	MTRR	ORPHA:2169
HP:0012759	Neurodevelopmental abnormality	80055	PGAP1	OMIM:615802
HP:0012759	Neurodevelopmental abnormality	84992	PIGY	ORPHA:247262
HP:0012759	Neurodevelopmental abnormality	93210	PGAP3	ORPHA:247262
HP:0012759	Neurodevelopmental abnormality	93210	PGAP3	OMIM:615716
HP:0012759	Neurodevelopmental abnormality	27315	PGAP2	ORPHA:247262
HP:0012759	Neurodevelopmental abnormality	64207	IRF2BPL	OMIM:618088
HP:0012759	Neurodevelopmental abnormality	80204	FBXO11	OMIM:618089
HP:0012759	Neurodevelopmental abnormality	5119	CHMP1A	OMIM:614961
HP:0012759	Neurodevelopmental abnormality	3953	LEPR	OMIM:614963
HP:0012759	Neurodevelopmental abnormality	5238	PGM3	OMIM:615816
HP:0012759	Neurodevelopmental abnormality	23325	WASHC4	OMIM:615817
HP:0012759	Neurodevelopmental abnormality	57531	HACE1	ORPHA:464282
HP:0012759	Neurodevelopmental abnormality	57531	HACE1	OMIM:616756
HP:0012759	Neurodevelopmental abnormality	9839	ZEB2	ORPHA:261552
HP:0012759	Neurodevelopmental abnormality	9839	ZEB2	ORPHA:261537
HP:0012759	Neurodevelopmental abnormality	633	BGN	OMIM:300106
HP:0012759	Neurodevelopmental abnormality	113235	SLC46A1	OMIM:229050
HP:0012759	Neurodevelopmental abnormality	4036	LRP2	ORPHA:2143
HP:0012759	Neurodevelopmental abnormality	3756	KCNH1	ORPHA:3473
HP:0012759	Neurodevelopmental abnormality	3425	IDUA	OMIM:607014
HP:0012759	Neurodevelopmental abnormality	3425	IDUA	OMIM:607016
HP:0012759	Neurodevelopmental abnormality	3425	IDUA	ORPHA:93473
HP:0012759	Neurodevelopmental abnormality	54496	PRMT7	ORPHA:464288
HP:0012759	Neurodevelopmental abnormality	54496	PRMT7	OMIM:617157
HP:0012759	Neurodevelopmental abnormality	339453	TMEM240	ORPHA:98773
HP:0012759	Neurodevelopmental abnormality	339453	TMEM240	OMIM:607454
HP:0012759	Neurodevelopmental abnormality	593	BCKDHA	OMIM:248600
HP:0012759	Neurodevelopmental abnormality	5063	PAK3	OMIM:300558
HP:0012759	Neurodevelopmental abnormality	9508	ADAMTS3	ORPHA:2136
HP:0012759	Neurodevelopmental abnormality	6507	SLC1A3	ORPHA:2131
HP:0012759	Neurodevelopmental abnormality	90624	LYRM7	OMIM:615838
HP:0012759	Neurodevelopmental abnormality	493856	CISD2	ORPHA:3463
HP:0012759	Neurodevelopmental abnormality	7466	WFS1	ORPHA:3463
HP:0012759	Neurodevelopmental abnormality	7466	WFS1	OMIM:222300
HP:0012759	Neurodevelopmental abnormality	54499	TMCO1	OMIM:213980
HP:0012759	Neurodevelopmental abnormality	54499	TMCO1	ORPHA:1394
HP:0012759	Neurodevelopmental abnormality	64135	IFIH1	OMIM:615846
HP:0012759	Neurodevelopmental abnormality	8242	KDM5C	OMIM:300534
HP:0012759	Neurodevelopmental abnormality	27086	FOXP1	OMIM:613670
HP:0012759	Neurodevelopmental abnormality	57393	CLTRN	ORPHA:2116
HP:0012759	Neurodevelopmental abnormality	55275	VPS53	OMIM:615851
HP:0012759	Neurodevelopmental abnormality	440193	CCDC88C	OMIM:236600
HP:0012759	Neurodevelopmental abnormality	2146	EZH2	OMIM:277590
HP:0012759	Neurodevelopmental abnormality	2146	EZH2	ORPHA:3447
HP:0012759	Neurodevelopmental abnormality	7048	TGFBR2	OMIM:610168
HP:0012759	Neurodevelopmental abnormality	445	ASS1	OMIM:215700
HP:0012759	Neurodevelopmental abnormality	51067	YARS2	ORPHA:2598
HP:0012759	Neurodevelopmental abnormality	55023	PHIP	ORPHA:589905
HP:0012759	Neurodevelopmental abnormality	55023	PHIP	OMIM:617991
HP:0012759	Neurodevelopmental abnormality	29123	ANKRD11	OMIM:148050
HP:0012759	Neurodevelopmental abnormality	79228	THOC6	OMIM:613680
HP:0012759	Neurodevelopmental abnormality	51134	CEP83	OMIM:615862
HP:0012759	Neurodevelopmental abnormality	3679	ITGA7	OMIM:613204
HP:0012759	Neurodevelopmental abnormality	4976	OPA1	OMIM:210000
HP:0012759	Neurodevelopmental abnormality	54704	PDP1	OMIM:608782
HP:0012759	Neurodevelopmental abnormality	84181	CHD6	ORPHA:2108
HP:0012759	Neurodevelopmental abnormality	8600	TNFSF11	OMIM:259710
HP:0012759	Neurodevelopmental abnormality	2245	FGD1	OMIM:305400
HP:0012759	Neurodevelopmental abnormality	64116	SLC39A8	OMIM:616721
HP:0012759	Neurodevelopmental abnormality	5648	MASP1	OMIM:257920
HP:0012759	Neurodevelopmental abnormality	5648	MASP1	ORPHA:293843
HP:0012759	Neurodevelopmental abnormality	23394	ADNP	OMIM:615873
HP:0012759	Neurodevelopmental abnormality	55605	KIF21A	ORPHA:45358
HP:0012759	Neurodevelopmental abnormality	347733	TUBB2B	ORPHA:45358
HP:0012759	Neurodevelopmental abnormality	347733	TUBB2B	ORPHA:1766
HP:0012759	Neurodevelopmental abnormality	347733	TUBB2B	ORPHA:300573
HP:0012759	Neurodevelopmental abnormality	347733	TUBB2B	OMIM:610031
HP:0012759	Neurodevelopmental abnormality	7846	TUBA1A	ORPHA:45358
HP:0012759	Neurodevelopmental abnormality	401	PHOX2A	ORPHA:45358
HP:0012759	Neurodevelopmental abnormality	10381	TUBB3	ORPHA:45358
HP:0012759	Neurodevelopmental abnormality	10381	TUBB3	OMIM:614039
HP:0012759	Neurodevelopmental abnormality	10381	TUBB3	ORPHA:300570
HP:0012759	Neurodevelopmental abnormality	84570	COL25A1	ORPHA:45358
HP:0012759	Neurodevelopmental abnormality	1788	DNMT3A	OMIM:615879
HP:0012759	Neurodevelopmental abnormality	6948	TCN2	OMIM:275350
HP:0012759	Neurodevelopmental abnormality	79796	ALG9	OMIM:608776
HP:0012759	Neurodevelopmental abnormality	79796	ALG9	ORPHA:79328
HP:0012759	Neurodevelopmental abnormality	1729	DIAPH1	ORPHA:2573
HP:0012759	Neurodevelopmental abnormality	59	ACTA2	ORPHA:2573
HP:0012759	Neurodevelopmental abnormality	57674	RNF213	ORPHA:2573
HP:0012759	Neurodevelopmental abnormality	26115	TANC2	OMIM:618906
HP:0012759	Neurodevelopmental abnormality	55593	OTUD5	OMIM:301056
HP:0012759	Neurodevelopmental abnormality	3748	KCNC3	OMIM:605259
HP:0012759	Neurodevelopmental abnormality	1822	ATN1	OMIM:125370
HP:0012759	Neurodevelopmental abnormality	1822	ATN1	OMIM:618494
HP:0012759	Neurodevelopmental abnormality	4854	NOTCH3	OMIM:130720
HP:0012759	Neurodevelopmental abnormality	5160	PDHA1	OMIM:312170
HP:0012759	Neurodevelopmental abnormality	23291	FBXW11	OMIM:618914
HP:0012759	Neurodevelopmental abnormality	54101	RIPK4	ORPHA:1234
HP:0012759	Neurodevelopmental abnormality	998	CDC42	OMIM:616737
HP:0012759	Neurodevelopmental abnormality	998	CDC42	ORPHA:487796
HP:0012759	Neurodevelopmental abnormality	10982	MAPRE2	OMIM:616734
HP:0012759	Neurodevelopmental abnormality	10982	MAPRE2	ORPHA:2505
HP:0012759	Neurodevelopmental abnormality	5048	PAFAH1B1	OMIM:607432
HP:0012759	Neurodevelopmental abnormality	3176	HNMT	OMIM:616739
HP:0012759	Neurodevelopmental abnormality	2891	GRIA2	OMIM:618917
HP:0012759	Neurodevelopmental abnormality	4131	MAP1B	OMIM:618918
HP:0012759	Neurodevelopmental abnormality	4694	NDUFA1	OMIM:301020
HP:0012759	Neurodevelopmental abnormality	27235	COQ2	OMIM:607426
HP:0012759	Neurodevelopmental abnormality	1778	DYNC1H1	OMIM:614563
HP:0012759	Neurodevelopmental abnormality	5000	ORC4	ORPHA:2554
HP:0012759	Neurodevelopmental abnormality	23594	ORC6	ORPHA:2554
HP:0012759	Neurodevelopmental abnormality	8318	CDC45	ORPHA:2554
HP:0012759	Neurodevelopmental abnormality	990	CDC6	ORPHA:2554
HP:0012759	Neurodevelopmental abnormality	4998	ORC1	ORPHA:2554
HP:0012759	Neurodevelopmental abnormality	1000	CDH2	OMIM:618929
HP:0012759	Neurodevelopmental abnormality	55764	IFT122	OMIM:218330
HP:0012759	Neurodevelopmental abnormality	54539	NDUFB11	ORPHA:2556
HP:0012759	Neurodevelopmental abnormality	54539	NDUFB11	OMIM:309801
HP:0012759	Neurodevelopmental abnormality	3052	HCCS	ORPHA:2556
HP:0012759	Neurodevelopmental abnormality	3052	HCCS	OMIM:309801
HP:0012759	Neurodevelopmental abnormality	2304	FOXE1	ORPHA:1226
HP:0012759	Neurodevelopmental abnormality	60	ACTB	ORPHA:79107
HP:0012759	Neurodevelopmental abnormality	60	ACTB	OMIM:243310
HP:0012759	Neurodevelopmental abnormality	60	ACTB	ORPHA:2995
HP:0012759	Neurodevelopmental abnormality	84061	MAGT1	OMIM:301031
HP:0012759	Neurodevelopmental abnormality	10943	MSL3	OMIM:301032
HP:0012759	Neurodevelopmental abnormality	6638	SNRPN	OMIM:209850
HP:0012759	Neurodevelopmental abnormality	56479	KCNQ5	OMIM:617601
HP:0012759	Neurodevelopmental abnormality	23152	CIC	OMIM:617600
HP:0012759	Neurodevelopmental abnormality	9343	EFTUD2	ORPHA:79113
HP:0012759	Neurodevelopmental abnormality	84172	POLR1B	OMIM:618939
HP:0012759	Neurodevelopmental abnormality	6878	TAF6	ORPHA:199
HP:0012759	Neurodevelopmental abnormality	6878	TAF6	OMIM:617126
HP:0012759	Neurodevelopmental abnormality	157680	VPS13B	ORPHA:193
HP:0012759	Neurodevelopmental abnormality	157680	VPS13B	OMIM:216550
HP:0012759	Neurodevelopmental abnormality	71	ACTG1	OMIM:614583
HP:0012759	Neurodevelopmental abnormality	71	ACTG1	ORPHA:2995
HP:0012759	Neurodevelopmental abnormality	8270	LAGE3	OMIM:301006
HP:0012759	Neurodevelopmental abnormality	2517	FUCA1	OMIM:230000
HP:0012759	Neurodevelopmental abnormality	117581	TWIST2	OMIM:209885
HP:0012759	Neurodevelopmental abnormality	80781	COL18A1	OMIM:267750
HP:0012759	Neurodevelopmental abnormality	63932	STEEP1	OMIM:301013
HP:0012759	Neurodevelopmental abnormality	56910	STARD7	OMIM:607876
HP:0012759	Neurodevelopmental abnormality	26503	SLC17A5	OMIM:604369
HP:0012759	Neurodevelopmental abnormality	1718	DHCR24	ORPHA:35107
HP:0012759	Neurodevelopmental abnormality	114928	GPRASP2	OMIM:301018
HP:0012759	Neurodevelopmental abnormality	92335	STRADA	OMIM:611087
HP:0012759	Neurodevelopmental abnormality	80210	ARMC9	OMIM:617622
HP:0012759	Neurodevelopmental abnormality	80210	ARMC9	ORPHA:475
HP:0012759	Neurodevelopmental abnormality	3832	KIF11	ORPHA:2526
HP:0012759	Neurodevelopmental abnormality	80208	SPG11	OMIM:604360
HP:0012759	Neurodevelopmental abnormality	80208	SPG11	OMIM:616668
HP:0012759	Neurodevelopmental abnormality	259266	ASPM	OMIM:608716
HP:0012759	Neurodevelopmental abnormality	6487	ST3GAL3	OMIM:611090
HP:0012759	Neurodevelopmental abnormality	7991	TUSC3	OMIM:611093
HP:0012759	Neurodevelopmental abnormality	6651	SON	ORPHA:500150
HP:0012759	Neurodevelopmental abnormality	6651	SON	OMIM:617140
HP:0012759	Neurodevelopmental abnormality	85378	TUBGCP6	ORPHA:2518
HP:0012759	Neurodevelopmental abnormality	85378	TUBGCP6	OMIM:251270
HP:0012759	Neurodevelopmental abnormality	27229	TUBGCP4	ORPHA:2518
HP:0012759	Neurodevelopmental abnormality	9939	RBM8A	OMIM:274000
HP:0012759	Neurodevelopmental abnormality	9451	EIF2AK3	ORPHA:1667
HP:0012759	Neurodevelopmental abnormality	55553	SOX6	OMIM:618971
HP:0012759	Neurodevelopmental abnormality	1968	EIF2S3	OMIM:300148
HP:0012759	Neurodevelopmental abnormality	1804	DPP6	OMIM:616311
HP:0012759	Neurodevelopmental abnormality	8398	PLA2G6	OMIM:256600
HP:0012759	Neurodevelopmental abnormality	55367	PIDD1	OMIM:619827
HP:0012759	Neurodevelopmental abnormality	8942	KYNU	ORPHA:79155
HP:0012759	Neurodevelopmental abnormality	1281	COL3A1	ORPHA:2500
HP:0012759	Neurodevelopmental abnormality	64682	ANAPC1	ORPHA:221008
HP:0012759	Neurodevelopmental abnormality	8912	CACNA1H	ORPHA:64280
HP:0012759	Neurodevelopmental abnormality	104	ADARB1	OMIM:618862
HP:0012759	Neurodevelopmental abnormality	5723	PSPH	OMIM:614023
HP:0012759	Neurodevelopmental abnormality	9524	TECR	OMIM:614020
HP:0012759	Neurodevelopmental abnormality	2895	GRID2	OMIM:616204
HP:0012759	Neurodevelopmental abnormality	51126	NAA20	OMIM:619717
HP:0012759	Neurodevelopmental abnormality	2972	BRF1	OMIM:616202
HP:0012759	Neurodevelopmental abnormality	60684	TRAPPC11	OMIM:615356
HP:0012759	Neurodevelopmental abnormality	60684	TRAPPC11	ORPHA:869
HP:0012759	Neurodevelopmental abnormality	60684	TRAPPC11	ORPHA:369847
HP:0012759	Neurodevelopmental abnormality	3008	H1-4	OMIM:617537
HP:0012759	Neurodevelopmental abnormality	3891	KRT85	OMIM:602032
HP:0012759	Neurodevelopmental abnormality	124997	WDR81	ORPHA:1766
HP:0012759	Neurodevelopmental abnormality	767	CA8	ORPHA:1766
HP:0012759	Neurodevelopmental abnormality	116931	MED12L	OMIM:618872
HP:0012759	Neurodevelopmental abnormality	387119	CEP85L	OMIM:618873
HP:0012759	Neurodevelopmental abnormality	1630	DCC	OMIM:617542
HP:0012759	Neurodevelopmental abnormality	1644	DDC	ORPHA:35708
HP:0012759	Neurodevelopmental abnormality	3781	KCNN2	OMIM:619725
HP:0012759	Neurodevelopmental abnormality	84572	GNPTG	OMIM:252605
HP:0012759	Neurodevelopmental abnormality	83696	TRAPPC9	OMIM:613192
HP:0012759	Neurodevelopmental abnormality	9698	PUM1	OMIM:620719
HP:0012759	Neurodevelopmental abnormality	9698	PUM1	OMIM:617931
HP:0012759	Neurodevelopmental abnormality	9469	CHST3	OMIM:143095
HP:0012759	Neurodevelopmental abnormality	9692	PRORP	OMIM:619737
HP:0012759	Neurodevelopmental abnormality	7528	YY1	OMIM:617557
HP:0012759	Neurodevelopmental abnormality	1292	COL6A2	OMIM:620727
HP:0012759	Neurodevelopmental abnormality	4853	NOTCH2	OMIM:102500
HP:0012759	Neurodevelopmental abnormality	51319	RSRC1	OMIM:618402
HP:0012759	Neurodevelopmental abnormality	7920	ABHD16A	OMIM:619735
HP:0012759	Neurodevelopmental abnormality	23761	PISD	OMIM:618889
HP:0012759	Neurodevelopmental abnormality	8726	EED	OMIM:617561
HP:0012759	Neurodevelopmental abnormality	10715	CERS1	OMIM:616230
HP:0012759	Neurodevelopmental abnormality	5442	POLRMT	OMIM:619743
HP:0012759	Neurodevelopmental abnormality	4297	KMT2A	ORPHA:319182
HP:0012759	Neurodevelopmental abnormality	4297	KMT2A	OMIM:605130
HP:0012759	Neurodevelopmental abnormality	514	ATP5F1E	OMIM:614053
HP:0012759	Neurodevelopmental abnormality	84314	TMEM107	OMIM:617562
HP:0012759	Neurodevelopmental abnormality	64132	XYLT2	ORPHA:85194
HP:0012759	Neurodevelopmental abnormality	79158	GNPTAB	OMIM:252600
HP:0012759	Neurodevelopmental abnormality	79600	TCTN1	ORPHA:475
HP:0012759	Neurodevelopmental abnormality	200894	ARL13B	ORPHA:475
HP:0012759	Neurodevelopmental abnormality	200894	ARL13B	OMIM:612291
HP:0012759	Neurodevelopmental abnormality	219844	HYLS1	ORPHA:475
HP:0012759	Neurodevelopmental abnormality	23247	KATNIP	ORPHA:475
HP:0012759	Neurodevelopmental abnormality	219854	TMEM218	ORPHA:475
HP:0012759	Neurodevelopmental abnormality	9786	KIAA0586	ORPHA:475
HP:0012759	Neurodevelopmental abnormality	79867	TCTN2	ORPHA:475
HP:0012759	Neurodevelopmental abnormality	80776	B9D2	ORPHA:475
HP:0012759	Neurodevelopmental abnormality	10464	PIBF1	ORPHA:475
HP:0012759	Neurodevelopmental abnormality	23116	TOGARAM1	ORPHA:475
HP:0012759	Neurodevelopmental abnormality	25776	CBY1	ORPHA:475
HP:0012759	Neurodevelopmental abnormality	27077	B9D1	ORPHA:475
HP:0012759	Neurodevelopmental abnormality	27077	B9D1	OMIM:617120
HP:0012759	Neurodevelopmental abnormality	403	ARL3	ORPHA:475
HP:0012759	Neurodevelopmental abnormality	1789	DNMT3B	OMIM:242860
HP:0012759	Neurodevelopmental abnormality	1789	DNMT3B	ORPHA:2268
HP:0012759	Neurodevelopmental abnormality	9056	SLC7A7	ORPHA:470
HP:0012759	Neurodevelopmental abnormality	9056	SLC7A7	OMIM:222700
HP:0012759	Neurodevelopmental abnormality	51604	PIGT	OMIM:615398
HP:0012759	Neurodevelopmental abnormality	84504	NKX6-2	ORPHA:527497
HP:0012759	Neurodevelopmental abnormality	8363	H4C11	OMIM:619759
HP:0012759	Neurodevelopmental abnormality	9841	ZBTB24	OMIM:614069
HP:0012759	Neurodevelopmental abnormality	9841	ZBTB24	ORPHA:2268
HP:0012759	Neurodevelopmental abnormality	391356	PTRHD1	OMIM:620747
HP:0012759	Neurodevelopmental abnormality	2592	GALT	OMIM:230400
HP:0012759	Neurodevelopmental abnormality	6810	STX4	OMIM:620745
HP:0012759	Neurodevelopmental abnormality	7701	ZNF142	OMIM:618425
HP:0012759	Neurodevelopmental abnormality	8364	H4C3	OMIM:619758
HP:0012759	Neurodevelopmental abnormality	145258	GSC	OMIM:602471
HP:0012759	Neurodevelopmental abnormality	85365	ALG2	ORPHA:79326
HP:0012759	Neurodevelopmental abnormality	56052	ALG1	ORPHA:79327
HP:0012759	Neurodevelopmental abnormality	2312	FLG	ORPHA:461
HP:0012759	Neurodevelopmental abnormality	8314	BAP1	OMIM:619762
HP:0012759	Neurodevelopmental abnormality	53335	BCL11A	OMIM:617101
HP:0012759	Neurodevelopmental abnormality	59336	PRDM13	OMIM:619761
HP:0012759	Neurodevelopmental abnormality	54487	DGCR8	OMIM:192430
HP:0012759	Neurodevelopmental abnormality	8214	DGCR6	OMIM:192430
HP:0012759	Neurodevelopmental abnormality	8220	ESS2	OMIM:192430
HP:0012759	Neurodevelopmental abnormality	9993	DGCR2	OMIM:192430
HP:0012759	Neurodevelopmental abnormality	11261	CHP1	OMIM:618438
HP:0012759	Neurodevelopmental abnormality	51341	ZBTB7A	OMIM:619769
HP:0012759	Neurodevelopmental abnormality	2729	GCLC	ORPHA:33574
HP:0012759	Neurodevelopmental abnormality	9338	TCEAL1	OMIM:301094
HP:0012759	Neurodevelopmental abnormality	2556	GABRA3	OMIM:301091
HP:0012759	Neurodevelopmental abnormality	5373	PMM2	ORPHA:79318
HP:0012759	Neurodevelopmental abnormality	4351	MPI	ORPHA:79319
HP:0012759	Neurodevelopmental abnormality	7030	TFE3	OMIM:301066
HP:0012759	Neurodevelopmental abnormality	111	ADCY5	ORPHA:324588
HP:0012759	Neurodevelopmental abnormality	51651	PTRH2	OMIM:616263
HP:0012759	Neurodevelopmental abnormality	23162	MAPK8IP3	OMIM:618443
HP:0012759	Neurodevelopmental abnormality	3978	LIG1	OMIM:619774
HP:0012759	Neurodevelopmental abnormality	4123	MAN2C1	OMIM:619775
HP:0012759	Neurodevelopmental abnormality	54941	RNF125	OMIM:616260
HP:0012759	Neurodevelopmental abnormality	4099	MAG	ORPHA:459056
HP:0012759	Neurodevelopmental abnormality	7994	KAT6A	OMIM:616268
HP:0012759	Neurodevelopmental abnormality	85459	CEP295	OMIM:620767
HP:0012759	Neurodevelopmental abnormality	79087	ALG12	ORPHA:79324
HP:0012759	Neurodevelopmental abnormality	6528	SLC5A5	OMIM:274400
HP:0012759	Neurodevelopmental abnormality	6528	SLC5A5	ORPHA:95716
HP:0012759	Neurodevelopmental abnormality	257	ALX3	OMIM:136760
HP:0012759	Neurodevelopmental abnormality	9896	FIG4	ORPHA:208441
HP:0012759	Neurodevelopmental abnormality	8295	TRRAP	OMIM:618454
HP:0012759	Neurodevelopmental abnormality	79882	ZC3H14	OMIM:617125
HP:0012759	Neurodevelopmental abnormality	5256	PHKA2	ORPHA:264580
HP:0012759	Neurodevelopmental abnormality	5261	PHKG2	ORPHA:264580
HP:0012759	Neurodevelopmental abnormality	221078	NSUN6	OMIM:620779
HP:0012759	Neurodevelopmental abnormality	5062	PAK2	OMIM:618458
HP:0012759	Neurodevelopmental abnormality	27145	FILIP1	OMIM:620775
HP:0012759	Neurodevelopmental abnormality	2582	GALE	OMIM:620776
HP:0012759	Neurodevelopmental abnormality	2582	GALE	OMIM:230350
HP:0012759	Neurodevelopmental abnormality	84706	GPT2	OMIM:616281
HP:0012759	Neurodevelopmental abnormality	84706	GPT2	ORPHA:477673
HP:0012759	Neurodevelopmental abnormality	5898	RALA	OMIM:619311
HP:0012759	Neurodevelopmental abnormality	203547	VMA21	OMIM:310440
HP:0012759	Neurodevelopmental abnormality	4143	MAT1A	OMIM:250850
HP:0012759	Neurodevelopmental abnormality	11267	SNF8	OMIM:620784
HP:0012759	Neurodevelopmental abnormality	11267	SNF8	OMIM:620783
HP:0012759	Neurodevelopmental abnormality	22854	NTNG1	ORPHA:3095
HP:0012759	Neurodevelopmental abnormality	1436	CSF1R	OMIM:618476
HP:0012759	Neurodevelopmental abnormality	29998	BICRA	OMIM:619325
HP:0012759	Neurodevelopmental abnormality	10978	CLP1	ORPHA:411493
HP:0012759	Neurodevelopmental abnormality	23030	KDM4B	OMIM:619320
HP:0012759	Neurodevelopmental abnormality	7453	WARS1	OMIM:620317
HP:0012759	Neurodevelopmental abnormality	1363	CPE	OMIM:619326
HP:0012759	Neurodevelopmental abnormality	93035	PKHD1L1	OMIM:620794
HP:0012759	Neurodevelopmental abnormality	10329	RXYLT1	ORPHA:899
HP:0012759	Neurodevelopmental abnormality	11041	B4GAT1	ORPHA:899
HP:0012759	Neurodevelopmental abnormality	84197	POMK	ORPHA:899
HP:0012759	Neurodevelopmental abnormality	55624	POMGNT1	ORPHA:899
HP:0012759	Neurodevelopmental abnormality	55624	POMGNT1	OMIM:613151
HP:0012759	Neurodevelopmental abnormality	28982	FLVCR1	ORPHA:88628
HP:0012759	Neurodevelopmental abnormality	28982	FLVCR1	OMIM:609033
HP:0012759	Neurodevelopmental abnormality	23221	RHOBTB2	OMIM:618004
HP:0012759	Neurodevelopmental abnormality	2530	FUT8	OMIM:618005
HP:0012759	Neurodevelopmental abnormality	4128	MAOA	OMIM:300615
HP:0012759	Neurodevelopmental abnormality	79641	ROGDI	OMIM:226750
HP:0012759	Neurodevelopmental abnormality	1108	CHD4	OMIM:617159
HP:0012759	Neurodevelopmental abnormality	11080	DNAJB4	OMIM:620326
HP:0012759	Neurodevelopmental abnormality	4000	LMNA	OMIM:212112
HP:0012759	Neurodevelopmental abnormality	4000	LMNA	ORPHA:98855
HP:0012759	Neurodevelopmental abnormality	4000	LMNA	ORPHA:98853
HP:0012759	Neurodevelopmental abnormality	5903	RANBP2	ORPHA:88619
HP:0012759	Neurodevelopmental abnormality	372	ARCN1	OMIM:617164
HP:0012759	Neurodevelopmental abnormality	3977	LIFR	OMIM:601559
HP:0012759	Neurodevelopmental abnormality	10297	APC2	OMIM:617169
HP:0012759	Neurodevelopmental abnormality	84668	HYCC1	OMIM:610532
HP:0012759	Neurodevelopmental abnormality	64864	RFX7	OMIM:620330
HP:0012759	Neurodevelopmental abnormality	2628	GATM	OMIM:612718
HP:0012759	Neurodevelopmental abnormality	9791	PTDSS1	OMIM:151050
HP:0012759	Neurodevelopmental abnormality	9791	PTDSS1	ORPHA:2658
HP:0012759	Neurodevelopmental abnormality	4882	NPR2	OMIM:602875
HP:0012759	Neurodevelopmental abnormality	5977	DPF2	OMIM:618027
HP:0012759	Neurodevelopmental abnormality	10681	GNB5	OMIM:617173
HP:0012759	Neurodevelopmental abnormality	10681	GNB5	OMIM:617182
HP:0012759	Neurodevelopmental abnormality	26005	C2CD3	ORPHA:434179
HP:0012759	Neurodevelopmental abnormality	440138	ALG11	ORPHA:280071
HP:0012759	Neurodevelopmental abnormality	79143	MBOAT7	OMIM:617188
HP:0012759	Neurodevelopmental abnormality	498	ATP5F1A	OMIM:620358
HP:0012759	Neurodevelopmental abnormality	51339	DACT1	ORPHA:857
HP:0012759	Neurodevelopmental abnormality	2593	GAMT	OMIM:612736
HP:0012759	Neurodevelopmental abnormality	627	BDNF	ORPHA:893
HP:0012759	Neurodevelopmental abnormality	55252	ASXL2	OMIM:617190
HP:0012759	Neurodevelopmental abnormality	6904	TBCD	OMIM:617193
HP:0012759	Neurodevelopmental abnormality	23154	NCDN	OMIM:619373
HP:0012759	Neurodevelopmental abnormality	8799	PEX11B	OMIM:614920
HP:0012759	Neurodevelopmental abnormality	10295	BCKDK	OMIM:614923
HP:0012759	Neurodevelopmental abnormality	55074	OXR1	OMIM:213000
HP:0012759	Neurodevelopmental abnormality	5076	PAX2	OMIM:120330
HP:0012759	Neurodevelopmental abnormality	11011	TLK2	OMIM:618050
HP:0012759	Neurodevelopmental abnormality	389434	IYD	OMIM:274800
HP:0012759	Neurodevelopmental abnormality	389434	IYD	ORPHA:95716
HP:0012759	Neurodevelopmental abnormality	27072	VPS41	OMIM:619389
HP:0012759	Neurodevelopmental abnormality	221927	BRAT1	OMIM:618056
HP:0012759	Neurodevelopmental abnormality	11113	CIT	OMIM:617090
HP:0012759	Neurodevelopmental abnormality	4574	MT-TS1	OMIM:220110
HP:0012759	Neurodevelopmental abnormality	4570	MT-TN	OMIM:220110
HP:0012759	Neurodevelopmental abnormality	6834	SURF1	OMIM:220110
HP:0012759	Neurodevelopmental abnormality	132158	GLYCTK	ORPHA:941
HP:0012759	Neurodevelopmental abnormality	132158	GLYCTK	OMIM:220120
HP:0012759	Neurodevelopmental abnormality	8443	GNPAT	OMIM:222765
HP:0012759	Neurodevelopmental abnormality	9442	MED27	OMIM:619286
HP:0012759	Neurodevelopmental abnormality	1146	CHRNG	OMIM:265000
HP:0012759	Neurodevelopmental abnormality	7102	TSPAN7	OMIM:300210
HP:0012759	Neurodevelopmental abnormality	2892	GRIA3	OMIM:300699
HP:0012759	Neurodevelopmental abnormality	57492	ARID1B	OMIM:135900
HP:0012759	Neurodevelopmental abnormality	3899	AFF3	OMIM:619297
HP:0012759	Neurodevelopmental abnormality	8131	NPRL3	ORPHA:98820
HP:0012759	Neurodevelopmental abnormality	10641	NPRL2	ORPHA:98820
HP:0012759	Neurodevelopmental abnormality	26523	AGO1	OMIM:620292
HP:0012759	Neurodevelopmental abnormality	29128	UHRF1	ORPHA:2268
HP:0012759	Neurodevelopmental abnormality	649	BMP1	OMIM:614856
HP:0012759	Neurodevelopmental abnormality	1727	CYB5R3	OMIM:250800
HP:0012759	Neurodevelopmental abnormality	197257	LDHD	OMIM:245450
HP:0012759	Neurodevelopmental abnormality	1857	DVL3	ORPHA:3107
HP:0012759	Neurodevelopmental abnormality	2535	FZD2	ORPHA:3107
HP:0012759	Neurodevelopmental abnormality	5828	PEX2	OMIM:614866
HP:0012759	Neurodevelopmental abnormality	540	ATP7B	ORPHA:905
HP:0012759	Neurodevelopmental abnormality	2627	GATA6	ORPHA:2255
HP:0012759	Neurodevelopmental abnormality	6804	STX1A	ORPHA:904
HP:0012759	Neurodevelopmental abnormality	7461	CLIP2	ORPHA:904
HP:0012759	Neurodevelopmental abnormality	84277	DNAJC30	ORPHA:904
HP:0012759	Neurodevelopmental abnormality	8468	FKBP6	ORPHA:904
HP:0012759	Neurodevelopmental abnormality	5982	RFC2	ORPHA:904
HP:0012759	Neurodevelopmental abnormality	2969	GTF2I	ORPHA:904
HP:0012759	Neurodevelopmental abnormality	3984	LIMK1	ORPHA:904
HP:0012759	Neurodevelopmental abnormality	9569	GTF2IRD1	ORPHA:904
HP:0012759	Neurodevelopmental abnormality	155382	VPS37D	ORPHA:904
HP:0012759	Neurodevelopmental abnormality	155368	METTL27	ORPHA:904
HP:0012759	Neurodevelopmental abnormality	114049	BUD23	ORPHA:904
HP:0012759	Neurodevelopmental abnormality	7458	EIF4H	ORPHA:904
HP:0012759	Neurodevelopmental abnormality	84163	GTF2IRD2	ORPHA:904
HP:0012759	Neurodevelopmental abnormality	26608	TBL2	ORPHA:904
HP:0012759	Neurodevelopmental abnormality	653361	NCF1	ORPHA:904
HP:0012759	Neurodevelopmental abnormality	135886	TMEM270	ORPHA:904
HP:0012759	Neurodevelopmental abnormality	9031	BAZ1B	ORPHA:904
HP:0012759	Neurodevelopmental abnormality	6329	SCN4A	ORPHA:99735
HP:0012759	Neurodevelopmental abnormality	5297	PI4KA	ORPHA:98889
HP:0012759	Neurodevelopmental abnormality	5297	PI4KA	OMIM:619708
HP:0012759	Neurodevelopmental abnormality	78989	COLEC11	OMIM:265050
HP:0012759	Neurodevelopmental abnormality	78989	COLEC11	ORPHA:293843
HP:0012759	Neurodevelopmental abnormality	728294	D2HGDH	OMIM:600721
HP:0012759	Neurodevelopmental abnormality	6628	SNRPB	ORPHA:1393
HP:0012759	Neurodevelopmental abnormality	6628	SNRPB	OMIM:117650
HP:0012759	Neurodevelopmental abnormality	2548	GAA	ORPHA:308552
HP:0012759	Neurodevelopmental abnormality	9409	PEX16	OMIM:614877
HP:0012759	Neurodevelopmental abnormality	254065	BRWD3	OMIM:300659
HP:0012759	Neurodevelopmental abnormality	26047	CNTNAP2	OMIM:610042
HP:0012759	Neurodevelopmental abnormality	25782	RAB3GAP2	ORPHA:1387
HP:0012759	Neurodevelopmental abnormality	9928	KIF14	OMIM:617914
HP:0012759	Neurodevelopmental abnormality	63901	FAM111A	OMIM:127000
HP:0012759	Neurodevelopmental abnormality	57704	GBA2	OMIM:614409
HP:0012759	Neurodevelopmental abnormality	1487	CTBP1	OMIM:617915
HP:0012759	Neurodevelopmental abnormality	2273	FHL1	ORPHA:98863
HP:0012759	Neurodevelopmental abnormality	2273	FHL1	OMIM:300280
HP:0012759	Neurodevelopmental abnormality	2010	EMD	ORPHA:98863
HP:0012759	Neurodevelopmental abnormality	80067	DCAF17	OMIM:241080
HP:0012759	Neurodevelopmental abnormality	57094	CPA6	OMIM:614417
HP:0012759	Neurodevelopmental abnormality	79188	TMEM43	ORPHA:98853
HP:0012759	Neurodevelopmental abnormality	23224	SYNE2	ORPHA:98853
HP:0012759	Neurodevelopmental abnormality	9158	FIBP	ORPHA:500095
HP:0012759	Neurodevelopmental abnormality	4683	NBN	OMIM:251260
HP:0012759	Neurodevelopmental abnormality	27249	MMADHC	OMIM:277410
HP:0012759	Neurodevelopmental abnormality	27249	MMADHC	ORPHA:79283
HP:0012759	Neurodevelopmental abnormality	10157	AASS	ORPHA:2203
HP:0012759	Neurodevelopmental abnormality	3033	HADH	OMIM:609975
HP:0012759	Neurodevelopmental abnormality	101929726	MYMX	ORPHA:1358
HP:0012759	Neurodevelopmental abnormality	8671	SLC4A4	OMIM:604278
HP:0012759	Neurodevelopmental abnormality	51116	MRPS2	OMIM:617950
HP:0012759	Neurodevelopmental abnormality	9512	PMPCB	OMIM:617954
HP:0012759	Neurodevelopmental abnormality	7173	TPO	ORPHA:95716
HP:0012759	Neurodevelopmental abnormality	50506	DUOX2	ORPHA:95716
HP:0012759	Neurodevelopmental abnormality	5605	MAP2K2	ORPHA:1340
HP:0012759	Neurodevelopmental abnormality	686	BTD	ORPHA:79241
HP:0012759	Neurodevelopmental abnormality	20	ABCA2	OMIM:618808
HP:0012759	Neurodevelopmental abnormality	3549	IHH	OMIM:607778
HP:0012759	Neurodevelopmental abnormality	338917	VSX2	OMIM:610093
HP:0012759	Neurodevelopmental abnormality	54664	TMEM106B	OMIM:617964
HP:0012759	Neurodevelopmental abnormality	54658	UGT1A1	ORPHA:79234
HP:0012759	Neurodevelopmental abnormality	2584	GALK1	ORPHA:79237
HP:0012759	Neurodevelopmental abnormality	51128	SAR1B	OMIM:246700
HP:0012759	Neurodevelopmental abnormality	6505	SLC1A1	OMIM:222730
HP:0012759	Neurodevelopmental abnormality	57468	SLC12A5	OMIM:616645
HP:0012759	Neurodevelopmental abnormality	10815	CPLX1	OMIM:617976
HP:0012759	Neurodevelopmental abnormality	2643	GCH1	ORPHA:98808
HP:0012759	Neurodevelopmental abnormality	3615	IMPDH2	ORPHA:98808
HP:0012759	Neurodevelopmental abnormality	2588	GALNS	OMIM:253000
HP:0012759	Neurodevelopmental abnormality	4337	MOCS1	OMIM:252150
HP:0012759	Neurodevelopmental abnormality	8405	SPOP	OMIM:618828
HP:0012759	Neurodevelopmental abnormality	8405	SPOP	OMIM:618829
HP:0012759	Neurodevelopmental abnormality	7507	XPA	OMIM:278700
HP:0012759	Neurodevelopmental abnormality	151	ADRA2B	ORPHA:86814
HP:0012759	Neurodevelopmental abnormality	1501	CTNND2	ORPHA:86814
HP:0012759	Neurodevelopmental abnormality	10299	MARCHF6	ORPHA:86814
HP:0012759	Neurodevelopmental abnormality	6900	CNTN2	ORPHA:86814
HP:0012759	Neurodevelopmental abnormality	51305	KCNK9	OMIM:612292
HP:0012759	Neurodevelopmental abnormality	54870	QRICH1	OMIM:617982
HP:0012759	Neurodevelopmental abnormality	54676	GTPBP2	OMIM:617988
HP:0012759	Neurodevelopmental abnormality	84631	SLITRK2	OMIM:301107
HP:0012759	Neurodevelopmental abnormality	51780	KDM3B	OMIM:618846
HP:0012759	Neurodevelopmental abnormality	4668	NAGA	ORPHA:79281
HP:0012759	Neurodevelopmental abnormality	10312	TCIRG1	ORPHA:1782
HP:0012759	Neurodevelopmental abnormality	55315	SLC29A3	ORPHA:1782
HP:0012759	Neurodevelopmental abnormality	8792	TNFRSF11A	ORPHA:1782
HP:0012759	Neurodevelopmental abnormality	25974	MMACHC	ORPHA:79282
HP:0012759	Neurodevelopmental abnormality	25974	MMACHC	OMIM:277400
HP:0012759	Neurodevelopmental abnormality	63929	XPNPEP3	OMIM:613159
HP:0012759	Neurodevelopmental abnormality	5718	PSMD12	OMIM:617516
HP:0012759	Neurodevelopmental abnormality	55788	LMBRD1	ORPHA:79284
HP:0012759	Neurodevelopmental abnormality	10225	CD96	ORPHA:1308
HP:0012759	Neurodevelopmental abnormality	1807	DPYS	OMIM:222748
HP:0012759	Neurodevelopmental abnormality	6223	RPS19	OMIM:105650
HP:0012759	Neurodevelopmental abnormality	9203	ZMYM3	OMIM:301111
HP:0012759	Neurodevelopmental abnormality	23133	PHF8	OMIM:300263
HP:0012759	Neurodevelopmental abnormality	9130	FAM50A	OMIM:300261
HP:0012759	Neurodevelopmental abnormality	139886	SPIN4	OMIM:301114
HP:0012759	Neurodevelopmental abnormality	64072	CDH23	ORPHA:231169
HP:0012759	Neurodevelopmental abnormality	10083	USH1C	ORPHA:231169
HP:0012759	Neurodevelopmental abnormality	124590	USH1G	ORPHA:231169
HP:0012759	Neurodevelopmental abnormality	83715	ESPN	ORPHA:231169
HP:0012759	Neurodevelopmental abnormality	10518	CIB2	ORPHA:231169
HP:0012759	Neurodevelopmental abnormality	4647	MYO7A	ORPHA:231169
HP:0012759	Neurodevelopmental abnormality	65217	PCDH15	ORPHA:231169
HP:0012759	Neurodevelopmental abnormality	51733	UPB1	OMIM:613161
HP:0012759	Neurodevelopmental abnormality	23001	WDFY3	OMIM:617520
HP:0012759	Neurodevelopmental abnormality	7543	ZFX	OMIM:301118
HP:0012759	Neurodevelopmental abnormality	8738	CRADD	OMIM:614499
HP:0012759	Neurodevelopmental abnormality	4858	NOVA2	OMIM:618859
HP:0012759	Neurodevelopmental abnormality	9181	ARHGEF2	OMIM:617523
HP:0012759	Neurodevelopmental abnormality	5052	PRDX1	OMIM:277400
HP:0012759	Neurodevelopmental abnormality	10749	KIF1C	ORPHA:397946
HP:0012759	Neurodevelopmental abnormality	85465	SELENOI	ORPHA:506353
HP:0012759	Neurodevelopmental abnormality	85465	SELENOI	OMIM:618768
HP:0012759	Neurodevelopmental abnormality	29899	GPSM2	OMIM:604213
HP:0012759	Neurodevelopmental abnormality	7021	TFAP2B	OMIM:169100
HP:0012759	Neurodevelopmental abnormality	5457	POU4F1	ORPHA:314647
HP:0012759	Neurodevelopmental abnormality	4522	MTHFD1	OMIM:617780
HP:0012759	Neurodevelopmental abnormality	8309	ACOX2	OMIM:617308
HP:0012759	Neurodevelopmental abnormality	57156	TMEM63C	OMIM:619966
HP:0012759	Neurodevelopmental abnormality	3764	KCNJ8	ORPHA:1517
HP:0012759	Neurodevelopmental abnormality	10060	ABCC9	ORPHA:1517
HP:0012759	Neurodevelopmental abnormality	10060	ABCC9	OMIM:239850
HP:0012759	Neurodevelopmental abnormality	80153	EDC3	OMIM:616460
HP:0012759	Neurodevelopmental abnormality	55154	MSTO1	OMIM:617675
HP:0012759	Neurodevelopmental abnormality	55154	MSTO1	ORPHA:502423
HP:0012759	Neurodevelopmental abnormality	6884	TAF13	OMIM:617432
HP:0012759	Neurodevelopmental abnormality	10939	AFG3L2	ORPHA:313772
HP:0012759	Neurodevelopmental abnormality	2626	GATA4	ORPHA:251071
HP:0012759	Neurodevelopmental abnormality	7020	TFAP2A	OMIM:113620
HP:0012759	Neurodevelopmental abnormality	833	CARS1	OMIM:618891
HP:0012759	Neurodevelopmental abnormality	81794	ADAMTS10	OMIM:277600
HP:0012759	Neurodevelopmental abnormality	81794	ADAMTS10	ORPHA:3449
HP:0012759	Neurodevelopmental abnormality	54902	TTC19	OMIM:615157
HP:0012759	Neurodevelopmental abnormality	1660	DHX9	OMIM:620988
HP:0012759	Neurodevelopmental abnormality	10021	HCN4	OMIM:619521
HP:0012759	Neurodevelopmental abnormality	1615	DARS1	OMIM:615281
HP:0012759	Neurodevelopmental abnormality	6942	TCF20	OMIM:618430
HP:0012759	Neurodevelopmental abnormality	51062	ATL1	OMIM:182600
HP:0012759	Neurodevelopmental abnormality	29110	TBK1	OMIM:620880
HP:0012759	Neurodevelopmental abnormality	178	AGL	ORPHA:366
HP:0012759	Neurodevelopmental abnormality	2742	GLRA2	OMIM:301076
HP:0012759	Neurodevelopmental abnormality	5111	PCNA	ORPHA:438134
HP:0012759	Neurodevelopmental abnormality	5908	RAP1B	OMIM:620654
HP:0012759	Neurodevelopmental abnormality	3242	HPD	OMIM:276710
HP:0012759	Neurodevelopmental abnormality	3242	HPD	OMIM:140350
HP:0012759	Neurodevelopmental abnormality	8905	AP1S2	OMIM:304340
HP:0012759	Neurodevelopmental abnormality	3155	HMGCL	ORPHA:20
HP:0012759	Neurodevelopmental abnormality	54973	INTS11	OMIM:620428
HP:0012759	Neurodevelopmental abnormality	79903	NAA60	OMIM:620786
HP:0012759	Neurodevelopmental abnormality	9256	TSPOAP1	ORPHA:101150
HP:0012759	Neurodevelopmental abnormality	7054	TH	ORPHA:101150
HP:0012759	Neurodevelopmental abnormality	4568	MT-TL2	ORPHA:663
HP:0012759	Neurodevelopmental abnormality	56521	DNAJC12	OMIM:617384
HP:0012759	Neurodevelopmental abnormality	3714	JAG2	OMIM:619566
HP:0012759	Neurodevelopmental abnormality	23524	SRRM2	OMIM:620439
HP:0012759	Neurodevelopmental abnormality	8890	EIF2B4	OMIM:620314
HP:0012759	Neurodevelopmental abnormality	4041	LRP5	OMIM:259770
HP:0012759	Neurodevelopmental abnormality	4041	LRP5	ORPHA:891
HP:0012759	Neurodevelopmental abnormality	51473	DCDC2	OMIM:617394
HP:0012759	Neurodevelopmental abnormality	537	ATP6AP1	OMIM:300972
HP:0012759	Neurodevelopmental abnormality	201163	FLCN	OMIM:610883
HP:0012759	Neurodevelopmental abnormality	3183	HNRNPC	OMIM:620688
HP:0012759	Neurodevelopmental abnormality	57010	CABP4	ORPHA:98784
HP:0012759	Neurodevelopmental abnormality	1141	CHRNB2	ORPHA:98784
HP:0012759	Neurodevelopmental abnormality	1392	CRH	ORPHA:98784
HP:0012759	Neurodevelopmental abnormality	55186	SLC25A36	OMIM:620211
HP:0012759	Neurodevelopmental abnormality	10771	ZMYND11	OMIM:616083
HP:0012759	Neurodevelopmental abnormality	1021	CDK6	OMIM:616080
HP:0012759	Neurodevelopmental abnormality	55213	RCBTB1	OMIM:617175
HP:0012759	Neurodevelopmental abnormality	29957	SLC25A24	ORPHA:2095
HP:0012759	Neurodevelopmental abnormality	8452	CUL3	OMIM:619239
HP:0012759	Neurodevelopmental abnormality	92935	MARS2	ORPHA:314603
HP:0012759	Neurodevelopmental abnormality	23067	SETD1B	OMIM:619000
HP:0012759	Neurodevelopmental abnormality	84905	ZNF341	OMIM:618282
HP:0012759	Neurodevelopmental abnormality	23554	TSPAN12	ORPHA:891
HP:0012759	Neurodevelopmental abnormality	79797	ZNF408	ORPHA:891
HP:0012759	Neurodevelopmental abnormality	8322	FZD4	ORPHA:891
HP:0012759	Neurodevelopmental abnormality	4256	MGP	OMIM:245150
HP:0012759	Neurodevelopmental abnormality	4256	MGP	ORPHA:85202
HP:0012759	Neurodevelopmental abnormality	6571	SLC18A2	OMIM:618049
HP:0012759	Neurodevelopmental abnormality	10020	GNE	ORPHA:3166
HP:0012759	Neurodevelopmental abnormality	10020	GNE	OMIM:269921
HP:0012759	Neurodevelopmental abnormality	10079	ATP9A	OMIM:620242
HP:0012759	Neurodevelopmental abnormality	5611	DNAJC3	ORPHA:445062
HP:0012759	Neurodevelopmental abnormality	375056	MIA3	OMIM:619269
HP:0012759	Neurodevelopmental abnormality	284361	EMC10	OMIM:619264
HP:0012759	Neurodevelopmental abnormality	6499	SKIC2	ORPHA:84064
HP:0012759	Neurodevelopmental abnormality	324	APC	ORPHA:261584
HP:0012759	Neurodevelopmental abnormality	1183	CLCN4	OMIM:300114
HP:0012759	Neurodevelopmental abnormality	84282	RNF135	ORPHA:137634
HP:0012759	Neurodevelopmental abnormality	10093	ARPC4	OMIM:620141
HP:0012759	Neurodevelopmental abnormality	55780	ERMARD	ORPHA:75857
HP:0012759	Neurodevelopmental abnormality	6866	TAC3	OMIM:614839
HP:0012759	Neurodevelopmental abnormality	25778	DSTYK	OMIM:270750
HP:0012759	Neurodevelopmental abnormality	9382	COG1	ORPHA:263508
HP:0012759	Neurodevelopmental abnormality	64601	VPS16	OMIM:619291
HP:0012759	Neurodevelopmental abnormality	274	BIN1	OMIM:255200
HP:0012759	Neurodevelopmental abnormality	274	BIN1	ORPHA:169186
HP:0012759	Neurodevelopmental abnormality	1757	SARDH	ORPHA:3129
HP:0012759	Neurodevelopmental abnormality	7080	NKX2-1	ORPHA:209905
HP:0012759	Neurodevelopmental abnormality	8546	AP3B1	OMIM:608233
HP:0012759	Neurodevelopmental abnormality	1678	TIMM8A	OMIM:304700
HP:0012759	Neurodevelopmental abnormality	4591	TRIM37	OMIM:253250
HP:0012759	Neurodevelopmental abnormality	4803	NGF	ORPHA:64752
HP:0012759	Neurodevelopmental abnormality	4803	NGF	OMIM:608654
HP:0012759	Neurodevelopmental abnormality	9719	ADAMTSL2	OMIM:231050
HP:0012759	Neurodevelopmental abnormality	2259	FGF14	ORPHA:98764
HP:0012759	Neurodevelopmental abnormality	1737	DLAT	OMIM:245348
HP:0012759	Neurodevelopmental abnormality	55906	ZC4H2	ORPHA:3454
HP:0012759	Neurodevelopmental abnormality	55906	ZC4H2	OMIM:314580
HP:0012759	Neurodevelopmental abnormality	10984	KCNQ1OT1	ORPHA:2128
HP:0012759	Neurodevelopmental abnormality	170691	ADAMTS17	ORPHA:3449
HP:0012759	Neurodevelopmental abnormality	4053	LTBP2	ORPHA:3449
HP:0012759	Neurodevelopmental abnormality	55835	CPAP	OMIM:613676
HP:0012759	Neurodevelopmental abnormality	92154	MTSS2	OMIM:620086
HP:0012759	Neurodevelopmental abnormality	23590	PDSS1	OMIM:614651
HP:0012759	Neurodevelopmental abnormality	6307	MSMO1	OMIM:616834
HP:0012759	Neurodevelopmental abnormality	6664	SOX11	OMIM:615866
HP:0012759	Neurodevelopmental abnormality	57410	SCYL1	OMIM:616719
HP:0012759	Neurodevelopmental abnormality	57410	SCYL1	ORPHA:466794
HP:0012759	Neurodevelopmental abnormality	84705	GTPBP3	ORPHA:444013
HP:0012759	Neurodevelopmental abnormality	10290	SPEG	ORPHA:169186
HP:0012759	Neurodevelopmental abnormality	6261	RYR1	ORPHA:169186
HP:0012759	Neurodevelopmental abnormality	7273	TTN	ORPHA:169186
HP:0012759	Neurodevelopmental abnormality	6712	SPTBN2	ORPHA:352403
HP:0012759	Neurodevelopmental abnormality	55187	VPS13D	OMIM:607317
HP:0012759	Neurodevelopmental abnormality	84816	RTN4IP1	OMIM:616732
HP:0012759	Neurodevelopmental abnormality	169792	GLIS3	OMIM:610199
HP:0012759	Neurodevelopmental abnormality	2122	MECOM	OMIM:616738
HP:0012759	Neurodevelopmental abnormality	54974	THG1L	OMIM:618800
HP:0012759	Neurodevelopmental abnormality	291	SLC25A4	OMIM:615418
HP:0012759	Neurodevelopmental abnormality	23400	ATP13A2	OMIM:606693
HP:0012759	Neurodevelopmental abnormality	51185	CRBN	OMIM:607417
HP:0012759	Neurodevelopmental abnormality	57599	WDR48	ORPHA:401800
HP:0012759	Neurodevelopmental abnormality	29980	DONSON	OMIM:617604
HP:0012759	Neurodevelopmental abnormality	158326	FREM1	OMIM:608980
HP:0012759	Neurodevelopmental abnormality	26576	SRPK3	OMIM:301134
HP:0012759	Neurodevelopmental abnormality	23209	MLC1	OMIM:604004
HP:0012759	Neurodevelopmental abnormality	4780	NFE2L2	OMIM:617744
HP:0012759	Neurodevelopmental abnormality	3295	HSD17B4	OMIM:233400
HP:0012759	Neurodevelopmental abnormality	113246	C12orf57	OMIM:218340
HP:0012759	Neurodevelopmental abnormality	5456	POU3F4	ORPHA:1435
HP:0012759	Neurodevelopmental abnormality	57502	NLGN4X	OMIM:300495
HP:0012759	Neurodevelopmental abnormality	210	ALAD	ORPHA:100924
HP:0012759	Neurodevelopmental abnormality	119559	SFXN4	OMIM:615578
HP:0012759	Neurodevelopmental abnormality	51663	ZFR	ORPHA:401840
HP:0012759	Neurodevelopmental abnormality	23309	SIN3B	ORPHA:500166
HP:0012759	Neurodevelopmental abnormality	23404	EXOSC2	OMIM:617763
HP:0012759	Neurodevelopmental abnormality	1478	CSTF2	OMIM:301116
HP:0012759	Neurodevelopmental abnormality	6736	SRY	ORPHA:1772
HP:0012759	Neurodevelopmental abnormality	84520	GON7	OMIM:619603
HP:0012759	Neurodevelopmental abnormality	84520	GON7	ORPHA:2065
HP:0012759	Neurodevelopmental abnormality	2671	GFER	OMIM:613076
HP:0012759	Neurodevelopmental abnormality	2671	GFER	ORPHA:330054
HP:0012759	Neurodevelopmental abnormality	6573	SLC19A1	OMIM:620603
HP:0012759	Neurodevelopmental abnormality	55681	SCYL2	OMIM:618766
HP:0012759	Neurodevelopmental abnormality	790955	UQCC3	OMIM:616111
HP:0012759	Neurodevelopmental abnormality	5376	PMP22	ORPHA:90658
HP:0012759	Neurodevelopmental abnormality	54345	SOX18	OMIM:137940
HP:0012759	Neurodevelopmental abnormality	5034	P4HB	OMIM:112240
HP:0012759	Neurodevelopmental abnormality	5034	P4HB	ORPHA:2050
HP:0012759	Neurodevelopmental abnormality	57169	ZNFX1	OMIM:619644
HP:0012759	Neurodevelopmental abnormality	11311	VPS45	OMIM:615285
HP:0012759	Neurodevelopmental abnormality	476	ATP1A1	OMIM:618314
HP:0012759	Neurodevelopmental abnormality	476	ATP1A1	ORPHA:564178
HP:0012759	Neurodevelopmental abnormality	55072	RNF31	OMIM:620632
HP:0012759	Neurodevelopmental abnormality	6901	TAFAZZIN	OMIM:302060
HP:0012759	Neurodevelopmental abnormality	23483	TGDS	OMIM:616145
HP:0012759	Neurodevelopmental abnormality	6603	SMARCD2	OMIM:617475
HP:0012759	Neurodevelopmental abnormality	4087	SMAD2	OMIM:619657
HP:0012759	Neurodevelopmental abnormality	7873	MANF	OMIM:620651
HP:0012759	Neurodevelopmental abnormality	58	ACTA1	ORPHA:97240
HP:0012759	Neurodevelopmental abnormality	58	ACTA1	ORPHA:97244
HP:0012759	Neurodevelopmental abnormality	4921	DDR2	OMIM:271665
HP:0012759	Neurodevelopmental abnormality	56945	MRPS22	OMIM:611719
HP:0012759	Neurodevelopmental abnormality	6888	TALDO1	ORPHA:101028
HP:0012759	Neurodevelopmental abnormality	7372	UMPS	ORPHA:30
HP:0012759	Neurodevelopmental abnormality	7372	UMPS	OMIM:258900
HP:0012759	Neurodevelopmental abnormality	23114	NFASC	OMIM:618356
HP:0012759	Neurodevelopmental abnormality	51434	ANAPC7	OMIM:619699
HP:0012759	Neurodevelopmental abnormality	84068	SLC10A7	OMIM:618363
HP:0012759	Neurodevelopmental abnormality	51608	GET4	OMIM:620200
HP:0012759	Neurodevelopmental abnormality	51324	SPG21	ORPHA:101001
HP:0012759	Neurodevelopmental abnormality	7174	TPP2	OMIM:619220
HP:0012759	Neurodevelopmental abnormality	51729	WBP11	OMIM:619227
HP:0012759	Neurodevelopmental abnormality	8883	NAE1	OMIM:620210
HP:0012759	Neurodevelopmental abnormality	11285	B4GALT7	ORPHA:75496
HP:0012759	Neurodevelopmental abnormality	65260	COA7	OMIM:618387
HP:0012759	Neurodevelopmental abnormality	54809	SAMD9	OMIM:617053
HP:0012759	Neurodevelopmental abnormality	31	ACACA	OMIM:613933
HP:0012759	Neurodevelopmental abnormality	55640	FLVCR2	OMIM:225790
HP:0012759	Neurodevelopmental abnormality	10551	AGR2	OMIM:620233
HP:0012759	Neurodevelopmental abnormality	10273	STUB1	ORPHA:412057
HP:0012759	Neurodevelopmental abnormality	55181	SMG8	OMIM:619268
HP:0012759	Neurodevelopmental abnormality	27445	PCLO	OMIM:608027
HP:0012759	Neurodevelopmental abnormality	26146	TRAF3IP1	ORPHA:3156
HP:0012759	Neurodevelopmental abnormality	26146	TRAF3IP1	OMIM:616629
HP:0012759	Neurodevelopmental abnormality	27130	INVS	ORPHA:3156
HP:0012759	Neurodevelopmental abnormality	261734	NPHP4	ORPHA:3156
HP:0012759	Neurodevelopmental abnormality	57728	WDR19	ORPHA:3156
HP:0012759	Neurodevelopmental abnormality	27031	NPHP3	ORPHA:3156
HP:0012759	Neurodevelopmental abnormality	22897	CEP164	ORPHA:3156
HP:0012759	Neurodevelopmental abnormality	22897	CEP164	OMIM:614845
HP:0012759	Neurodevelopmental abnormality	168667	BMPER	OMIM:608022
HP:0012759	Neurodevelopmental abnormality	2294	FOXF1	OMIM:265380
HP:0012759	Neurodevelopmental abnormality	25821	MTO1	OMIM:614702
HP:0012759	Neurodevelopmental abnormality	85300	ATCAY	ORPHA:94122
HP:0012759	Neurodevelopmental abnormality	85300	ATCAY	OMIM:601238
HP:0012759	Neurodevelopmental abnormality	26153	KIF26A	OMIM:620156
HP:0012759	Neurodevelopmental abnormality	1185	CLCN6	OMIM:619173
HP:0012759	Neurodevelopmental abnormality	1272	CNTN1	OMIM:612540
HP:0012759	Neurodevelopmental abnormality	92579	G6PC3	OMIM:612541
HP:0012759	Neurodevelopmental abnormality	55858	TMEM165	OMIM:614727
HP:0012759	Neurodevelopmental abnormality	63894	VIPAS39	OMIM:613404
HP:0012759	Neurodevelopmental abnormality	1906	EDN1	ORPHA:137888
HP:0012759	Neurodevelopmental abnormality	5332	PLCB4	ORPHA:137888
HP:0012759	Neurodevelopmental abnormality	2773	GNAI3	ORPHA:137888
HP:0012759	Neurodevelopmental abnormality	51660	MPC1	OMIM:614741
HP:0012759	Neurodevelopmental abnormality	8379	MAD1L1	OMIM:620189
HP:0012759	Neurodevelopmental abnormality	55719	SLF2	OMIM:620184
HP:0012759	Neurodevelopmental abnormality	2255	FGF10	ORPHA:2363
HP:0012759	Neurodevelopmental abnormality	415	ARSL	OMIM:302950
HP:0012759	Neurodevelopmental abnormality	415	ARSL	ORPHA:79345
HP:0012759	Neurodevelopmental abnormality	6314	ATXN7	ORPHA:94147
HP:0012759	Neurodevelopmental abnormality	50943	FOXP3	OMIM:304790
HP:0012759	Neurodevelopmental abnormality	10560	SLC19A2	OMIM:249270
HP:0012759	Neurodevelopmental abnormality	121278	TPH2	OMIM:613003
HP:0012759	Neurodevelopmental abnormality	9750	RIPOR2	OMIM:616515
HP:0012759	Neurodevelopmental abnormality	326625	MMAB	OMIM:251110
HP:0012759	Neurodevelopmental abnormality	80152	CENPT	OMIM:618702
HP:0012759	Neurodevelopmental abnormality	57570	TRMT5	OMIM:616539
HP:0012759	Neurodevelopmental abnormality	57647	DHX37	OMIM:618731
HP:0012759	Neurodevelopmental abnormality	7471	WNT1	OMIM:615220
HP:0012759	Neurodevelopmental abnormality	10736	SIX2	ORPHA:488437
HP:0012759	Neurodevelopmental abnormality	3852	KRT5	ORPHA:79396
HP:0012759	Neurodevelopmental abnormality	3852	KRT5	OMIM:619599
HP:0012759	Neurodevelopmental abnormality	3861	KRT14	ORPHA:79396
HP:0012759	Neurodevelopmental abnormality	4791	NFKB2	ORPHA:293978
HP:0012759	Neurodevelopmental abnormality	4791	NFKB2	OMIM:615577
HP:0012759	Neurodevelopmental abnormality	10617	STAMBP	OMIM:614261
HP:0012759	Neurodevelopmental abnormality	55627	SMPD4	OMIM:618622
HP:0012759	Neurodevelopmental abnormality	5361	PLXNA1	OMIM:619955
HP:0012759	Neurodevelopmental abnormality	6536	SLC6A9	OMIM:617301
HP:0012759	Neurodevelopmental abnormality	65082	VPS33A	OMIM:617303
HP:0012759	Neurodevelopmental abnormality	65082	VPS33A	ORPHA:505248
HP:0012759	Neurodevelopmental abnormality	10565	ARFGEF1	OMIM:619964
HP:0012759	Neurodevelopmental abnormality	3284	HSD3B2	ORPHA:90791
HP:0012759	Neurodevelopmental abnormality	79184	BRCC3	ORPHA:280679
HP:0012759	Neurodevelopmental abnormality	57167	SALL4	ORPHA:233
HP:0012759	Neurodevelopmental abnormality	9935	MAFB	ORPHA:233
HP:0012759	Neurodevelopmental abnormality	1123	CHN1	ORPHA:233
HP:0012759	Neurodevelopmental abnormality	85301	COL27A1	OMIM:615155
HP:0012759	Neurodevelopmental abnormality	213	ALB	OMIM:616000
HP:0012759	Neurodevelopmental abnormality	55699	IARS2	OMIM:616007
HP:0012759	Neurodevelopmental abnormality	4191	MDH2	OMIM:617339
HP:0012759	Neurodevelopmental abnormality	166785	MMAA	OMIM:251100
HP:0012759	Neurodevelopmental abnormality	5551	PRF1	OMIM:603553
HP:0012759	Neurodevelopmental abnormality	8676	STX11	OMIM:603552
HP:0012759	Neurodevelopmental abnormality	7385	UQCRC2	OMIM:615160
HP:0012759	Neurodevelopmental abnormality	79989	IFT56	OMIM:619534
HP:0012759	Neurodevelopmental abnormality	10516	FBLN5	ORPHA:90348
HP:0012759	Neurodevelopmental abnormality	6897	TARS1	ORPHA:33364
HP:0012759	Neurodevelopmental abnormality	7040	TGFB1	OMIM:618213
HP:0012759	Neurodevelopmental abnormality	133686	NADK2	OMIM:616034
HP:0012759	Neurodevelopmental abnormality	133686	NADK2	ORPHA:431361
HP:0012759	Neurodevelopmental abnormality	11338	U2AF2	OMIM:620535
HP:0012759	Neurodevelopmental abnormality	4728	NDUFS8	OMIM:618222
HP:0012759	Neurodevelopmental abnormality	4728	NDUFS8	ORPHA:2609
HP:0012759	Neurodevelopmental abnormality	8818	DPM2	ORPHA:329178
HP:0012759	Neurodevelopmental abnormality	8818	DPM2	OMIM:615042
HP:0012759	Neurodevelopmental abnormality	91942	NDUFAF2	OMIM:618233
HP:0012759	Neurodevelopmental abnormality	91942	NDUFAF2	ORPHA:2609
HP:0012759	Neurodevelopmental abnormality	6514	SLC2A2	OMIM:227810
HP:0012759	Neurodevelopmental abnormality	126328	NDUFA11	OMIM:618236
HP:0012759	Neurodevelopmental abnormality	126328	NDUFA11	ORPHA:2609
HP:0012759	Neurodevelopmental abnormality	8312	AXIN1	OMIM:620558
HP:0012759	Neurodevelopmental abnormality	4709	NDUFB3	OMIM:618246
HP:0012759	Neurodevelopmental abnormality	4709	NDUFB3	ORPHA:2609
HP:0012759	Neurodevelopmental abnormality	25915	NDUFAF3	OMIM:618240
HP:0012759	Neurodevelopmental abnormality	25915	NDUFAF3	ORPHA:2609
HP:0012759	Neurodevelopmental abnormality	55572	FOXRED1	OMIM:618241
HP:0012759	Neurodevelopmental abnormality	55572	FOXRED1	ORPHA:2609
HP:0012759	Neurodevelopmental abnormality	80224	NUBPL	OMIM:618242
HP:0012759	Neurodevelopmental abnormality	80224	NUBPL	ORPHA:2609
HP:0012759	Neurodevelopmental abnormality	4705	NDUFA10	OMIM:618243
HP:0012759	Neurodevelopmental abnormality	51079	NDUFA13	OMIM:618249
HP:0012759	Neurodevelopmental abnormality	10092	ARPC5	OMIM:620565
HP:0012759	Neurodevelopmental abnormality	8604	SLC25A12	OMIM:612949
HP:0012759	Neurodevelopmental abnormality	51300	TIMMDC1	OMIM:618251
HP:0012759	Neurodevelopmental abnormality	51300	TIMMDC1	ORPHA:2609
HP:0012759	Neurodevelopmental abnormality	4714	NDUFB8	OMIM:618252
HP:0012759	Neurodevelopmental abnormality	23384	SPECC1L	OMIM:145420
HP:0012759	Neurodevelopmental abnormality	2683	B4GALT1	OMIM:607091
HP:0012759	Neurodevelopmental abnormality	11340	EXOSC8	OMIM:616081
HP:0012759	Neurodevelopmental abnormality	11340	EXOSC8	ORPHA:2254
HP:0012759	Neurodevelopmental abnormality	51095	TRNT1	OMIM:616084
HP:0012759	Neurodevelopmental abnormality	23405	DICER1	OMIM:618272
HP:0012759	Neurodevelopmental abnormality	374354	NHLRC2	OMIM:618278
HP:0012759	Neurodevelopmental abnormality	90416	CCDC32	OMIM:619123
HP:0012759	Neurodevelopmental abnormality	1719	DHFR	OMIM:613839
HP:0012759	Neurodevelopmental abnormality	1795	DOCK3	OMIM:618292
HP:0012759	Neurodevelopmental abnormality	132001	TAMM41	OMIM:620139
HP:0012759	Neurodevelopmental abnormality	54938	SARS2	OMIM:613845
HP:0012759	Neurodevelopmental abnormality	9871	SEC24D	ORPHA:2050
HP:0012759	Neurodevelopmental abnormality	9871	SEC24D	OMIM:616294
HP:0012759	Neurodevelopmental abnormality	83700	JAM3	OMIM:613730
HP:0012759	Neurodevelopmental abnormality	95	ACY1	ORPHA:137754
HP:0012759	Neurodevelopmental abnormality	95	ACY1	OMIM:609924
HP:0012759	Neurodevelopmental abnormality	57176	VARS2	OMIM:615917
HP:0012759	Neurodevelopmental abnormality	80222	TARS2	OMIM:615918
HP:0012759	Neurodevelopmental abnormality	6531	SLC6A3	ORPHA:238455
HP:0012759	Neurodevelopmental abnormality	6531	SLC6A3	OMIM:613135
HP:0012759	Neurodevelopmental abnormality	3141	HLCS	OMIM:253270
HP:0012759	Neurodevelopmental abnormality	55163	PNPO	ORPHA:79096
HP:0012759	Neurodevelopmental abnormality	55163	PNPO	OMIM:610090
HP:0012759	Neurodevelopmental abnormality	28958	COA3	OMIM:619058
HP:0012759	Neurodevelopmental abnormality	1351	COX8A	OMIM:619059
HP:0012759	Neurodevelopmental abnormality	6575	SLC20A2	OMIM:213600
HP:0012759	Neurodevelopmental abnormality	5155	PDGFB	OMIM:213600
HP:0012759	Neurodevelopmental abnormality	23265	EXOC7	OMIM:619072
HP:0012759	Neurodevelopmental abnormality	1802	DPH2	OMIM:620062
HP:0012759	Neurodevelopmental abnormality	1802	DPH2	ORPHA:459061
HP:0012759	Neurodevelopmental abnormality	10236	HNRNPR	OMIM:620073
HP:0012759	Neurodevelopmental abnormality	25828	TXN2	OMIM:616811
HP:0012759	Neurodevelopmental abnormality	9080	CLDN9	OMIM:619093
HP:0012759	Neurodevelopmental abnormality	4088	SMAD3	OMIM:613795
HP:0012759	Neurodevelopmental abnormality	147007	TMEM199	OMIM:616829
HP:0012759	Neurodevelopmental abnormality	84317	CCDC115	OMIM:616828
HP:0012759	Neurodevelopmental abnormality	57017	COQ9	OMIM:614654
HP:0012759	Neurodevelopmental abnormality	51025	PAM16	OMIM:613320
HP:0012759	Neurodevelopmental abnormality	1828	DSG1	OMIM:615508
HP:0012759	Neurodevelopmental abnormality	865	CBFB	OMIM:620099
HP:0012759	Neurodevelopmental abnormality	7167	TPI1	OMIM:615512
HP:0012759	Neurodevelopmental abnormality	3313	HSPA9	OMIM:616854
HP:0012759	Neurodevelopmental abnormality	51010	EXOSC3	OMIM:614678
HP:0012759	Neurodevelopmental abnormality	51010	EXOSC3	ORPHA:2254
HP:0012759	Neurodevelopmental abnormality	51008	ASCC1	OMIM:616867
HP:0012759	Neurodevelopmental abnormality	51501	HIKESHI	OMIM:616881
HP:0012759	Neurodevelopmental abnormality	83737	ITCH	OMIM:613385
HP:0012759	Neurodevelopmental abnormality	83737	ITCH	ORPHA:228426
HP:0012759	Neurodevelopmental abnormality	440	ASNS	OMIM:615574
HP:0012759	Neurodevelopmental abnormality	26235	FBXL4	OMIM:615471
HP:0012759	Neurodevelopmental abnormality	5994	RFXAP	OMIM:620817
HP:0012759	Neurodevelopmental abnormality	387787	LIPT2	OMIM:617668
HP:0012759	Neurodevelopmental abnormality	24142	NAA80	OMIM:620830
HP:0012759	Neurodevelopmental abnormality	5105	PCK1	OMIM:261680
HP:0012759	Neurodevelopmental abnormality	1020	CDK5	OMIM:616342
HP:0012759	Neurodevelopmental abnormality	26258	BLOC1S6	OMIM:614171
HP:0012759	Neurodevelopmental abnormality	788	SLC25A20	ORPHA:159
HP:0012759	Neurodevelopmental abnormality	4285	MIPEP	OMIM:617228
HP:0012759	Neurodevelopmental abnormality	57679	ALS2	OMIM:205100
HP:0012759	Neurodevelopmental abnormality	57679	ALS2	ORPHA:300605
HP:0012759	Neurodevelopmental abnormality	29960	MRM2	OMIM:618567
HP:0012759	Neurodevelopmental abnormality	205327	C2orf69	OMIM:619423
HP:0012759	Neurodevelopmental abnormality	26173	INTS1	OMIM:618571
HP:0012759	Neurodevelopmental abnormality	55656	INTS8	OMIM:618572
HP:0012759	Neurodevelopmental abnormality	55151	TMEM38B	OMIM:615066
HP:0012759	Neurodevelopmental abnormality	9488	PIGB	OMIM:618580
HP:0012759	Neurodevelopmental abnormality	2653	GCSH	OMIM:620423
HP:0012759	Neurodevelopmental abnormality	6809	STX3	OMIM:619446
HP:0012759	Neurodevelopmental abnormality	6809	STX3	ORPHA:2290
HP:0012759	Neurodevelopmental abnormality	3417	IDH1	ORPHA:99646
HP:0012759	Neurodevelopmental abnormality	56975	FAM20C	OMIM:259775
HP:0012759	Neurodevelopmental abnormality	23258	DENND5A	OMIM:617281
HP:0012759	Neurodevelopmental abnormality	9734	HDAC9	OMIM:620457
HP:0012759	Neurodevelopmental abnormality	94005	PIGS	OMIM:618143
HP:0012759	Neurodevelopmental abnormality	4762	NEUROG1	OMIM:620469
HP:0012759	Neurodevelopmental abnormality	283446	MYO1H	OMIM:619482
HP:0012759	Neurodevelopmental abnormality	2998	GYS2	ORPHA:2089
HP:0012759	Neurodevelopmental abnormality	3988	LIPA	ORPHA:75233
HP:0012759	Neurodevelopmental abnormality	63899	NSUN3	OMIM:619012
HP:0012759	Neurodevelopmental abnormality	2193	FARSA	OMIM:619013
HP:0012759	Neurodevelopmental abnormality	727676	SNORD118	ORPHA:542310
HP:0012759	Neurodevelopmental abnormality	727676	SNORD118	OMIM:614561
HP:0012759	Neurodevelopmental abnormality	26276	VPS33B	OMIM:620009
HP:0012759	Neurodevelopmental abnormality	26276	VPS33B	OMIM:208085
HP:0012759	Neurodevelopmental abnormality	3110	MNX1	OMIM:176450
HP:0012759	Neurodevelopmental abnormality	84081	NSRP1	OMIM:620001
HP:0012759	Neurodevelopmental abnormality	80217	CFAP43	OMIM:236690
HP:0012759	Neurodevelopmental abnormality	64432	MRPS25	OMIM:619025
HP:0012759	Neurodevelopmental abnormality	84274	COQ5	OMIM:619028
HP:0012759	Neurodevelopmental abnormality	79693	YRDC	ORPHA:2065
HP:0012759	Neurodevelopmental abnormality	5393	EXOSC9	OMIM:618065
HP:0012759	Neurodevelopmental abnormality	5393	EXOSC9	ORPHA:2254
HP:0012759	Neurodevelopmental abnormality	6662	SOX9	OMIM:114290
HP:0012759	Neurodevelopmental abnormality	84876	ORAI1	OMIM:612782
HP:0012759	Neurodevelopmental abnormality	5624	PROC	OMIM:612304
HP:0012759	Neurodevelopmental abnormality	11232	POLG2	OMIM:610131
HP:0012759	Neurodevelopmental abnormality	84300	UQCC2	OMIM:615824
HP:0012759	Neurodevelopmental abnormality	165	AEBP1	ORPHA:536532
HP:0012759	Neurodevelopmental abnormality	3418	IDH2	OMIM:613657
HP:0012759	Neurodevelopmental abnormality	1910	EDNRB	OMIM:277580
HP:0012759	Neurodevelopmental abnormality	9440	MED17	OMIM:613668
HP:0012759	Neurodevelopmental abnormality	10229	COQ7	OMIM:616733
HP:0012759	Neurodevelopmental abnormality	11151	CORO1A	OMIM:615401
HP:0012759	Neurodevelopmental abnormality	3796	KIF2A	OMIM:615411
HP:0012759	Neurodevelopmental abnormality	79576	NKAP	OMIM:301039
HP:0012759	Neurodevelopmental abnormality	8985	PLOD3	OMIM:612394
HP:0012759	Neurodevelopmental abnormality	25	ABL1	OMIM:617602
HP:0012759	Neurodevelopmental abnormality	11222	MRPL3	OMIM:614582
HP:0012759	Neurodevelopmental abnormality	51520	LARS1	OMIM:615438
HP:0012759	Neurodevelopmental abnormality	4329	ALDH6A1	OMIM:614105
HP:0012759	Neurodevelopmental abnormality	55617	TASP1	OMIM:618950
HP:0012759	Neurodevelopmental abnormality	6182	MRPL12	OMIM:618951
HP:0012759	Neurodevelopmental abnormality	60528	ELAC2	OMIM:615440
HP:0012759	Neurodevelopmental abnormality	10319	LAMC3	OMIM:614115
HP:0012759	Neurodevelopmental abnormality	4190	MDH1	OMIM:618959
HP:0012759	Neurodevelopmental abnormality	115286	SLC25A26	OMIM:616794
HP:0012759	Neurodevelopmental abnormality	8625	RFXANK	OMIM:620815
HP:0012759	Neurodevelopmental abnormality	4716	NDUFB10	ORPHA:2609
HP:0012759	Neurodevelopmental abnormality	284184	NDUFAF8	ORPHA:2609
HP:0012759	Neurodevelopmental abnormality	55863	TMEM126B	ORPHA:2609
HP:0012759	Neurodevelopmental abnormality	4726	NDUFS6	ORPHA:2609
HP:0012759	Neurodevelopmental abnormality	4722	NDUFS3	ORPHA:2609
HP:0012759	Neurodevelopmental abnormality	29078	NDUFAF4	ORPHA:2609
HP:0012759	Neurodevelopmental abnormality	4715	NDUFB9	ORPHA:2609
HP:0012759	Neurodevelopmental abnormality	3145	HMBS	OMIM:620704
HP:0012759	Neurodevelopmental abnormality	9231	DLG5	OMIM:620703
HP:0012759	Neurodevelopmental abnormality	5339	PLEC	ORPHA:254361
HP:0012759	Neurodevelopmental abnormality	3021	H3-3B	OMIM:619721
HP:0012759	Neurodevelopmental abnormality	3162	HMOX1	OMIM:614034
HP:0012759	Neurodevelopmental abnormality	10026	PIGK	OMIM:618879
HP:0012759	Neurodevelopmental abnormality	4056	LTC4S	OMIM:614037
HP:0012759	Neurodevelopmental abnormality	79639	TMEM53	OMIM:619727
HP:0012759	Neurodevelopmental abnormality	375387	NRROS	OMIM:618875
HP:0012759	Neurodevelopmental abnormality	4149	MAX	OMIM:620712
HP:0012759	Neurodevelopmental abnormality	6440	SFTPC	OMIM:610913
HP:0012759	Neurodevelopmental abnormality	64175	P3H1	OMIM:610915
HP:0012759	Neurodevelopmental abnormality	130589	GALM	OMIM:618881
HP:0012759	Neurodevelopmental abnormality	6773	STAT2	OMIM:618886
HP:0012759	Neurodevelopmental abnormality	39	ACAT2	OMIM:614055
HP:0012759	Neurodevelopmental abnormality	55361	PI4K2A	OMIM:620732
HP:0012759	Neurodevelopmental abnormality	339983	NAT8L	OMIM:614063
HP:0012759	Neurodevelopmental abnormality	7531	YWHAE	ORPHA:217385
HP:0012759	Neurodevelopmental abnormality	79803	HPS6	OMIM:614075
HP:0012759	Neurodevelopmental abnormality	9474	ATG5	OMIM:617584
HP:0012759	Neurodevelopmental abnormality	10195	ALG3	ORPHA:79321
HP:0012759	Neurodevelopmental abnormality	10195	ALG3	OMIM:601110
HP:0012759	Neurodevelopmental abnormality	79053	ALG8	ORPHA:79325
HP:0012759	Neurodevelopmental abnormality	1892	ECHS1	OMIM:616277
HP:0012759	Neurodevelopmental abnormality	3658	IREB2	OMIM:618451
HP:0012759	Neurodevelopmental abnormality	51013	EXOSC1	OMIM:619304
HP:0012759	Neurodevelopmental abnormality	54892	NCAPG2	OMIM:618460
HP:0012759	Neurodevelopmental abnormality	2355	FOSL2	OMIM:620789
HP:0012759	Neurodevelopmental abnormality	6650	CAPN15	OMIM:619318
HP:0012759	Neurodevelopmental abnormality	3032	HADHB	OMIM:620300
HP:0012759	Neurodevelopmental abnormality	10102	TSFM	OMIM:610505
HP:0012759	Neurodevelopmental abnormality	29968	PSAT1	OMIM:610992
HP:0012759	Neurodevelopmental abnormality	157922	CAMSAP1	OMIM:620316
HP:0012759	Neurodevelopmental abnormality	10073	SNUPN	OMIM:620793
HP:0012759	Neurodevelopmental abnormality	400569	MED11	OMIM:620327
HP:0012759	Neurodevelopmental abnormality	84701	COX4I2	OMIM:612714
HP:0012759	Neurodevelopmental abnormality	28962	OSTM1	ORPHA:85179
HP:0012759	Neurodevelopmental abnormality	539	ATP5PO	OMIM:620359
HP:0012759	Neurodevelopmental abnormality	2811	GP1BA	ORPHA:853
HP:0012759	Neurodevelopmental abnormality	3674	ITGA2B	ORPHA:853
HP:0012759	Neurodevelopmental abnormality	3673	ITGA2	ORPHA:853
HP:0012759	Neurodevelopmental abnormality	135228	CD109	ORPHA:853
HP:0012759	Neurodevelopmental abnormality	3690	ITGB3	ORPHA:853
HP:0012759	Neurodevelopmental abnormality	55898	UNC45A	OMIM:619377
HP:0012759	Neurodevelopmental abnormality	5236	PGM1	OMIM:614921
HP:0012759	Neurodevelopmental abnormality	55005	RMND1	OMIM:614922
HP:0012759	Neurodevelopmental abnormality	129285	PPP1R21	OMIM:619383
HP:0012759	Neurodevelopmental abnormality	6584	SLC22A5	OMIM:212140
HP:0012759	Neurodevelopmental abnormality	81555	YIPF5	OMIM:619278
HP:0012759	Neurodevelopmental abnormality	4645	MYO5B	ORPHA:2290
HP:0012759	Neurodevelopmental abnormality	347734	SLC35B2	OMIM:620269
HP:0012759	Neurodevelopmental abnormality	36	ACADSB	OMIM:610006
HP:0012759	Neurodevelopmental abnormality	7841	MOGS	OMIM:606056
HP:0012759	Neurodevelopmental abnormality	4338	MOCS2	OMIM:252160
HP:0012759	Neurodevelopmental abnormality	5826	ABCD4	OMIM:614857
HP:0012759	Neurodevelopmental abnormality	9255	AIMP1	OMIM:260600
HP:0012759	Neurodevelopmental abnormality	10280	SIGMAR1	ORPHA:300605
HP:0012759	Neurodevelopmental abnormality	10558	SPTLC1	ORPHA:300605
HP:0012759	Neurodevelopmental abnormality	162417	NAGS	ORPHA:927
HP:0012759	Neurodevelopmental abnormality	10165	SLC25A13	ORPHA:247585
HP:0012759	Neurodevelopmental abnormality	11023	VAX1	OMIM:614402
HP:0012759	Neurodevelopmental abnormality	763	CA5A	OMIM:615751
HP:0012759	Neurodevelopmental abnormality	64221	ROBO3	OMIM:607313
HP:0012759	Neurodevelopmental abnormality	2542	SLC37A4	ORPHA:79259
HP:0012759	Neurodevelopmental abnormality	11019	LIAS	OMIM:614462
HP:0012759	Neurodevelopmental abnormality	4659	PPP1R12A	OMIM:618820
HP:0012759	Neurodevelopmental abnormality	3704	ITPA	OMIM:616647
HP:0012759	Neurodevelopmental abnormality	22934	RPIA	OMIM:608611
HP:0012759	Neurodevelopmental abnormality	22871	NLGN1	OMIM:618830
HP:0012759	Neurodevelopmental abnormality	1284	COL4A2	OMIM:614483
HP:0012759	Neurodevelopmental abnormality	29071	C1GALT1C1	OMIM:301110
HP:0012759	Neurodevelopmental abnormality	4747	NEFL	OMIM:607734
HP:0012759	Neurodevelopmental abnormality	28985	MCTS1	OMIM:301115
HP:0012759	Neurodevelopmental abnormality	18	ABAT	OMIM:613163
HP:0012759	Neurodevelopmental abnormality	80169	CTC1	ORPHA:1775
HP:0012759	Neurodevelopmental abnormality	79650	USB1	ORPHA:1775
HP:0012759	Neurodevelopmental abnormality	55135	WRAP53	ORPHA:1775
HP:0012759	Neurodevelopmental abnormality	4869	NPM1	ORPHA:1775
HP:0012759	Neurodevelopmental abnormality	7298	TYMS	ORPHA:1775
HP:0012759	Neurodevelopmental abnormality	96459	FNIP1	OMIM:619705
HP:0012759	Neurodevelopmental abnormality	25871	NEPRO	OMIM:618853
HP:0012759	Neurodevelopmental abnormality	55753	OGDHL	OMIM:619701
HP:0012759	Neurodevelopmental abnormality	22868	FASTKD2	OMIM:618855
HP:0012759	Neurodevelopmental abnormality	1145	CHRNE	OMIM:608931
HP:0012759	Neurodevelopmental abnormality	2673	GFPT1	OMIM:608931
HP:0012759	Neurodevelopmental abnormality	2673	GFPT1	OMIM:610542
HP:0012759	Neurodevelopmental abnormality	2673	GFPT1	ORPHA:353327
HP:0012759	Neurodevelopmental abnormality	1144	CHRND	OMIM:616323
HP:0012759	Neurodevelopmental abnormality	4919	ROR1	OMIM:617654
HP:0012759	Neurodevelopmental abnormality	1134	CHRNA1	OMIM:608930
HP:0012759	Neurodevelopmental abnormality	1777	DNASE2	OMIM:619858
HP:0012759	Neurodevelopmental abnormality	54332	GDAP1	ORPHA:101097
HP:0012759	Neurodevelopmental abnormality	54332	GDAP1	OMIM:214400
HP:0012759	Neurodevelopmental abnormality	54332	GDAP1	ORPHA:99948
HP:0012759	Neurodevelopmental abnormality	54332	GDAP1	ORPHA:99944
HP:0012759	Neurodevelopmental abnormality	1594	CYP27B1	OMIM:264700
HP:0012759	Neurodevelopmental abnormality	1594	CYP27B1	ORPHA:289157
HP:0012759	Neurodevelopmental abnormality	7386	UQCRFS1	OMIM:618775
HP:0012759	Neurodevelopmental abnormality	4359	MPZ	ORPHA:101082
HP:0012759	Neurodevelopmental abnormality	4359	MPZ	OMIM:180800
HP:0012759	Neurodevelopmental abnormality	4359	MPZ	OMIM:618184
HP:0012759	Neurodevelopmental abnormality	4359	MPZ	OMIM:145900
HP:0012759	Neurodevelopmental abnormality	26154	ABCA12	OMIM:242500
HP:0012759	Neurodevelopmental abnormality	120227	CYP2R1	ORPHA:289157
HP:0012759	Neurodevelopmental abnormality	5357	PLS1	OMIM:618787
HP:0012759	Neurodevelopmental abnormality	253959	RALGAPA1	OMIM:618797
HP:0012759	Neurodevelopmental abnormality	487	ATP2A1	OMIM:601003
HP:0012759	Neurodevelopmental abnormality	5836	PYGL	ORPHA:369
HP:0012759	Neurodevelopmental abnormality	5081	PAX7	OMIM:618578
HP:0012759	Neurodevelopmental abnormality	4703	NEB	OMIM:256030
HP:0012759	Neurodevelopmental abnormality	4703	NEB	ORPHA:171433
HP:0012759	Neurodevelopmental abnormality	4703	NEB	ORPHA:171430
HP:0012759	Neurodevelopmental abnormality	4703	NEB	ORPHA:171439
HP:0012759	Neurodevelopmental abnormality	10397	NDRG1	OMIM:601455
HP:0012759	Neurodevelopmental abnormality	10397	NDRG1	ORPHA:99950
HP:0012759	Neurodevelopmental abnormality	81790	RNF170	OMIM:619686
HP:0012759	Neurodevelopmental abnormality	5980	REV3L	ORPHA:570
HP:0012759	Neurodevelopmental abnormality	23129	PLXND1	ORPHA:570
HP:0012759	Neurodevelopmental abnormality	51704	GPRC5B	OMIM:620447
HP:0012759	Neurodevelopmental abnormality	6811	STX5	OMIM:620454
HP:0012759	Neurodevelopmental abnormality	3636	INPPL1	OMIM:258480
HP:0012759	Neurodevelopmental abnormality	3557	IL1RN	OMIM:612852
HP:0012759	Neurodevelopmental abnormality	1073	CFL2	OMIM:610687
HP:0012759	Neurodevelopmental abnormality	779	CACNA1S	OMIM:620246
HP:0012759	Neurodevelopmental abnormality	51102	MECR	ORPHA:508093
HP:0012759	Neurodevelopmental abnormality	27178	IL37	OMIM:619398
HP:0012759	Neurodevelopmental abnormality	7125	TNNC2	OMIM:620161
HP:0012759	Neurodevelopmental abnormality	23137	SMC5	OMIM:620185
HP:0012759	Neurodevelopmental abnormality	1303	COL12A1	ORPHA:536516
HP:0012759	Neurodevelopmental abnormality	1303	COL12A1	OMIM:616471
HP:0012759	Neurodevelopmental abnormality	1303	COL12A1	OMIM:616470
HP:0012759	Neurodevelopmental abnormality	64419	MTMR14	OMIM:160150
HP:0012759	Neurodevelopmental abnormality	1785	DNM2	OMIM:160150
HP:0012759	Neurodevelopmental abnormality	1374	CPT1A	OMIM:255120
HP:0012759	Neurodevelopmental abnormality	91252	SLC39A13	OMIM:612350
HP:0012759	Neurodevelopmental abnormality	55033	FKBP14	OMIM:614557
HP:0012759	Neurodevelopmental abnormality	55033	FKBP14	ORPHA:300179
HP:0012759	Neurodevelopmental abnormality	1959	EGR2	OMIM:605253
HP:0012759	Neurodevelopmental abnormality	1959	EGR2	OMIM:145900
HP:0012759	Neurodevelopmental abnormality	84693	MCEE	OMIM:251120
HP:0012759	Neurodevelopmental abnormality	4982	TNFRSF11B	OMIM:239000
HP:0012759	Neurodevelopmental abnormality	283989	TSEN54	ORPHA:2524
HP:0012759	Neurodevelopmental abnormality	79042	TSEN34	ORPHA:2524
HP:0012759	Neurodevelopmental abnormality	80746	TSEN2	ORPHA:2524
HP:0012759	Neurodevelopmental abnormality	84700	MYO18B	OMIM:616549
HP:0012759	Neurodevelopmental abnormality	4654	MYOD1	OMIM:618975
HP:0012759	Neurodevelopmental abnormality	2201	FBN2	OMIM:121050
HP:0012759	Neurodevelopmental abnormality	9200	HACD1	OMIM:619967
HP:0012759	Neurodevelopmental abnormality	9200	HACD1	ORPHA:2020
HP:0012759	Neurodevelopmental abnormality	1293	COL6A3	OMIM:620726
HP:0012759	Neurodevelopmental abnormality	1277	COL1A1	ORPHA:287
HP:0012759	Neurodevelopmental abnormality	1289	COL5A1	ORPHA:287
HP:0012759	Neurodevelopmental abnormality	1290	COL5A2	ORPHA:287
HP:0012759	Neurodevelopmental abnormality	283987	HID1	OMIM:619983
HP:0012759	Neurodevelopmental abnormality	4632	MYL1	OMIM:618414
HP:0012759	Neurodevelopmental abnormality	9453	GGPS1	OMIM:619518
HP:0012759	Neurodevelopmental abnormality	8898	MTMR2	OMIM:601382
HP:0012759	Neurodevelopmental abnormality	51098	IFT52	OMIM:617102
HP:0012759	Neurodevelopmental abnormality	30008	EFEMP2	ORPHA:90349
HP:0012759	Neurodevelopmental abnormality	79628	SH3TC2	OMIM:601596
HP:0012759	Neurodevelopmental abnormality	85476	GFM1	OMIM:609060
HP:0012759	Neurodevelopmental abnormality	6548	SLC9A1	OMIM:616291
HP:0012759	Neurodevelopmental abnormality	55967	NDUFA12	OMIM:618244
HP:0012759	Neurodevelopmental abnormality	4621	MYH3	OMIM:193700
HP:0012759	Neurodevelopmental abnormality	7170	TPM3	OMIM:609284
HP:0012759	Neurodevelopmental abnormality	7170	TPM3	ORPHA:171433
HP:0012759	Neurodevelopmental abnormality	7170	TPM3	ORPHA:171881
HP:0012759	Neurodevelopmental abnormality	7170	TPM3	ORPHA:2020
HP:0012759	Neurodevelopmental abnormality	7170	TPM3	ORPHA:171439
HP:0012759	Neurodevelopmental abnormality	55750	AGK	OMIM:212350
HP:0012759	Neurodevelopmental abnormality	112812	FDX2	OMIM:251900
HP:0012759	Neurodevelopmental abnormality	9509	ADAMTS2	OMIM:225410
HP:0012759	Neurodevelopmental abnormality	2705	GJB1	OMIM:302800
HP:0012759	Neurodevelopmental abnormality	2705	GJB1	ORPHA:1175
HP:0012759	Neurodevelopmental abnormality	4534	MTM1	OMIM:310400
HP:0012759	Neurodevelopmental abnormality	285590	SH3PXD2B	OMIM:249420
HP:0012759	Neurodevelopmental abnormality	4322	MMP13	OMIM:250400
HP:0012759	Neurodevelopmental abnormality	11014	KDELR2	OMIM:619131
HP:0012759	Neurodevelopmental abnormality	100	ADA	OMIM:102700
HP:0012759	Neurodevelopmental abnormality	2733	GLE1	OMIM:611890
HP:0012759	Neurodevelopmental abnormality	90523	MLIP	OMIM:620138
HP:0012759	Neurodevelopmental abnormality	2617	GARS1	OMIM:619042
HP:0012759	Neurodevelopmental abnormality	10324	KLHL41	ORPHA:171433
HP:0012759	Neurodevelopmental abnormality	10324	KLHL41	ORPHA:171430
HP:0012759	Neurodevelopmental abnormality	10324	KLHL41	OMIM:615731
HP:0012759	Neurodevelopmental abnormality	10324	KLHL41	ORPHA:171439
HP:0012759	Neurodevelopmental abnormality	131377	KLHL40	ORPHA:171430
HP:0012759	Neurodevelopmental abnormality	56203	LMOD3	ORPHA:171430
HP:0012759	Neurodevelopmental abnormality	5176	SERPINF1	OMIM:613982
HP:0012759	Neurodevelopmental abnormality	84665	MYPN	ORPHA:171881
HP:0012759	Neurodevelopmental abnormality	84665	MYPN	ORPHA:171439
HP:0012759	Neurodevelopmental abnormality	4633	MYL2	ORPHA:2020
HP:0012759	Neurodevelopmental abnormality	51776	MAP3K20	ORPHA:2020
HP:0012759	Neurodevelopmental abnormality	51776	MAP3K20	OMIM:617760
HP:0012759	Neurodevelopmental abnormality	121512	FGD4	OMIM:609311
HP:0012759	Neurodevelopmental abnormality	64837	KLC2	OMIM:609541
HP:0012759	Neurodevelopmental abnormality	9321	TRIP11	OMIM:184260
HP:0012759	Neurodevelopmental abnormality	5165	PDK3	ORPHA:352675
HP:0012759	Neurodevelopmental abnormality	390594	KBTBD13	ORPHA:171439
HP:0012759	Neurodevelopmental abnormality	57716	PRX	OMIM:614895
HP:0012759	Neurodevelopmental abnormality	57716	PRX	OMIM:145900
HP:0012759	Neurodevelopmental abnormality	23534	TNPO3	OMIM:608423
HP:0012759	Neurodevelopmental abnormality	8729	GBF1	OMIM:606483
HP:0012759	Neurodevelopmental abnormality	579	NKX3-2	OMIM:613330
HP:0012759	Neurodevelopmental abnormality	7421	VDR	OMIM:277440
HP:0012759	Neurodevelopmental abnormality	23395	LARS2	OMIM:615300
HP:0012759	Neurodevelopmental abnormality	11280	SCN11A	OMIM:615548
HP:0012759	Neurodevelopmental abnormality	8087	FXR1	OMIM:618822
HP:0012759	Neurodevelopmental abnormality	8087	FXR1	OMIM:618823
HP:0012759	Neurodevelopmental abnormality	374462	PTPRQ	OMIM:613391
HP:0012759	Neurodevelopmental abnormality	166929	SGMS2	OMIM:126550
HP:0012759	Neurodevelopmental abnormality	26229	B3GAT3	OMIM:245600
HP:0012759	Neurodevelopmental abnormality	6309	SC5D	ORPHA:46059
HP:0012759	Neurodevelopmental abnormality	3094	HINT1	ORPHA:324442
HP:0012759	Neurodevelopmental abnormality	161742	SPRED1	OMIM:611431
HP:0012759	Neurodevelopmental abnormality	161742	SPRED1	ORPHA:137605
HP:0012759	Neurodevelopmental abnormality	6228	RPS23	OMIM:617412
HP:0012759	Neurodevelopmental abnormality	4487	MSX1	ORPHA:199302
HP:0012759	Neurodevelopmental abnormality	3664	IRF6	ORPHA:199302
HP:0012759	Neurodevelopmental abnormality	3664	IRF6	ORPHA:1300
HP:0012759	Neurodevelopmental abnormality	79783	SUGCT	ORPHA:35706
HP:0012759	Neurodevelopmental abnormality	6687	SPG7	ORPHA:99013
HP:0012759	Neurodevelopmental abnormality	23600	AMACR	ORPHA:79095
HP:0012759	Neurodevelopmental abnormality	215	ABCD1	ORPHA:139396
HP:0012759	Neurodevelopmental abnormality	7840	ALMS1	ORPHA:64
HP:0012759	Neurodevelopmental abnormality	7454	WAS	ORPHA:906
HP:0012759	Neurodevelopmental abnormality	7456	WIPF1	ORPHA:906
HP:0012759	Neurodevelopmental abnormality	10056	FARSB	OMIM:613658
HP:0012759	Neurodevelopmental abnormality	641	BLM	OMIM:210900
HP:0012759	Neurodevelopmental abnormality	182	JAG1	OMIM:118450
HP:0012759	Neurodevelopmental abnormality	9772	TMEM94	OMIM:618316
HP:0012759	Neurodevelopmental abnormality	2324	FLT4	ORPHA:79452
HP:0012759	Neurodevelopmental abnormality	9780	PIEZO1	ORPHA:79452
HP:0012759	Neurodevelopmental abnormality	285	ANGPT2	ORPHA:79452
HP:0012759	Neurodevelopmental abnormality	57165	GJC2	ORPHA:79452
HP:0012759	Neurodevelopmental abnormality	4692	NDN	ORPHA:98754
HP:0012759	Neurodevelopmental abnormality	4692	NDN	ORPHA:177904
HP:0012759	Neurodevelopmental abnormality	4692	NDN	ORPHA:177901
HP:0012759	Neurodevelopmental abnormality	4948	OCA2	ORPHA:98754
HP:0012759	Neurodevelopmental abnormality	4948	OCA2	ORPHA:177904
HP:0012759	Neurodevelopmental abnormality	4948	OCA2	ORPHA:177901
HP:0012759	Neurodevelopmental abnormality	8218	CLTCL1	ORPHA:453510
HP:0012759	Neurodevelopmental abnormality	9725	TMEM63A	OMIM:618688
HP:0012759	Neurodevelopmental abnormality	81846	SBF2	ORPHA:99956
HP:0012759	Neurodevelopmental abnormality	5587	PRKD1	OMIM:617364
HP:0012759	Neurodevelopmental abnormality	7068	THRB	ORPHA:566243
HP:0012759	Neurodevelopmental abnormality	165918	RNF168	ORPHA:420741
HP:0012759	Neurodevelopmental abnormality	10126	DNAL4	ORPHA:238722
HP:0012759	Neurodevelopmental abnormality	9423	NTN1	ORPHA:238722
HP:0012759	Neurodevelopmental abnormality	4558	MT-TF	ORPHA:550
HP:0012759	Neurodevelopmental abnormality	4572	MT-TQ	ORPHA:550
HP:0012759	Neurodevelopmental abnormality	4512	MT-CO1	ORPHA:550
HP:0012759	Neurodevelopmental abnormality	4513	MT-CO2	ORPHA:550
HP:0012759	Neurodevelopmental abnormality	4514	MT-CO3	ORPHA:550
HP:0012759	Neurodevelopmental abnormality	4578	MT-TW	ORPHA:550
HP:0012759	Neurodevelopmental abnormality	4540	MT-ND5	ORPHA:550
HP:0012759	Neurodevelopmental abnormality	4541	MT-ND6	ORPHA:550
HP:0012759	Neurodevelopmental abnormality	4535	MT-ND1	ORPHA:550
HP:0012759	Neurodevelopmental abnormality	4538	MT-ND4	ORPHA:550
HP:0012759	Neurodevelopmental abnormality	4567	MT-TL1	ORPHA:550
HP:0012759	Neurodevelopmental abnormality	4575	MT-TS2	ORPHA:550
HP:0012759	Neurodevelopmental abnormality	4564	MT-TH	ORPHA:550
HP:0012759	Neurodevelopmental abnormality	51621	KLF13	OMIM:612001
HP:0012759	Neurodevelopmental abnormality	5621	PRNP	ORPHA:280397
HP:0012759	Neurodevelopmental abnormality	9948	WDR1	OMIM:150550
HP:0012759	Neurodevelopmental abnormality	6729	SRP54	OMIM:260400
HP:0012759	Neurodevelopmental abnormality	443	ASPA	ORPHA:314918
HP:0012759	Neurodevelopmental abnormality	7012	TERC	OMIM:127550
HP:0012759	Neurodevelopmental abnormality	4052	LTBP1	OMIM:619451
HP:0012759	Neurodevelopmental abnormality	3759	KCNJ2	OMIM:170390
HP:0012759	Neurodevelopmental abnormality	3759	KCNJ2	ORPHA:37553
HP:0012759	Neurodevelopmental abnormality	23389	MED13L	ORPHA:369891
HP:0012759	Neurodevelopmental abnormality	23111	SPART	ORPHA:101000
HP:0012759	Neurodevelopmental abnormality	8091	HMGA2	ORPHA:94063
HP:0012759	Neurodevelopmental abnormality	23592	LEMD3	ORPHA:94063
HP:0012759	Neurodevelopmental abnormality	5283	PIGH	OMIM:618010
HP:0012759	Neurodevelopmental abnormality	4990	SIX6	OMIM:206900
HP:0012759	Neurodevelopmental abnormality	91039	DPP9	OMIM:620331
HP:0012759	Neurodevelopmental abnormality	1756	DMD	ORPHA:98896
HP:0012759	Neurodevelopmental abnormality	8425	LTBP4	ORPHA:98896
HP:0012759	Neurodevelopmental abnormality	10367	MICU1	OMIM:615673
HP:0012759	Neurodevelopmental abnormality	2887	GRB10	ORPHA:96182
HP:0012759	Neurodevelopmental abnormality	60676	PAPPA2	OMIM:619489
HP:0012759	Neurodevelopmental abnormality	6853	SYN1	ORPHA:85294
HP:0012759	Neurodevelopmental abnormality	6853	SYN1	OMIM:300491
HP:0012759	Neurodevelopmental abnormality	5286	PIK3C2A	ORPHA:557003
HP:0012759	Neurodevelopmental abnormality	51109	RDH11	ORPHA:436245
HP:0012759	Neurodevelopmental abnormality	3762	KCNJ5	ORPHA:37553
HP:0012759	Neurodevelopmental abnormality	9254	CACNA2D2	OMIM:618501
HP:0012759	Neurodevelopmental abnormality	170825	GSX2	OMIM:618646
HP:0012759	Neurodevelopmental abnormality	6647	SOD1	OMIM:618598
HP:0012759	Neurodevelopmental abnormality	57003	CCDC47	OMIM:618268
HP:0012759	Neurodevelopmental abnormality	57038	RARS2	OMIM:611523
HP:0012759	Neurodevelopmental abnormality	25913	POT1	OMIM:620368
HP:0012759	Neurodevelopmental abnormality	87178	PNPT1	OMIM:614932
HP:0012759	Neurodevelopmental abnormality	87178	PNPT1	ORPHA:319514
HP:0012759	Neurodevelopmental abnormality	1119	CHKA	OMIM:620023
HP:0012759	Neurodevelopmental abnormality	50628	GEMIN4	OMIM:617913
HP:0012759	Neurodevelopmental abnormality	51807	TUBA8	ORPHA:250972
HP:0012759	Neurodevelopmental abnormality	7280	TUBB2A	OMIM:615763
HP:0012759	Neurodevelopmental abnormality	9197	SLC33A1	OMIM:614482
HP:0012759	Neurodevelopmental abnormality	57194	ATP10A	ORPHA:411515
HP:0012759	Neurodevelopmental abnormality	51399	TRAPPC4	OMIM:618741
HP:0012759	Neurodevelopmental abnormality	55746	NUP133	OMIM:618349
HP:0012759	Neurodevelopmental abnormality	53616	ADAM22	OMIM:617933
HP:0012759	Neurodevelopmental abnormality	128869	PIGU	OMIM:618590
HP:0012759	Neurodevelopmental abnormality	63908	NAPB	OMIM:620033
HP:0012759	Neurodevelopmental abnormality	7965	AIMP2	OMIM:618006
HP:0012759	Neurodevelopmental abnormality	83480	PUS3	ORPHA:488627
HP:0012759	Neurodevelopmental abnormality	83480	PUS3	OMIM:617051
HP:0012759	Neurodevelopmental abnormality	1193	CLIC2	ORPHA:324410
HP:0012759	Neurodevelopmental abnormality	11342	RNF13	OMIM:618379
HP:0012759	Neurodevelopmental abnormality	11342	RNF13	ORPHA:544503
HP:0012759	Neurodevelopmental abnormality	4905	NSF	OMIM:619340
HP:0012759	Neurodevelopmental abnormality	54681	P4HTM	OMIM:618493
HP:0012759	Neurodevelopmental abnormality	128637	TBC1D20	OMIM:615663
HP:0012759	Neurodevelopmental abnormality	6785	ELOVL4	OMIM:614457
HP:0012759	Neurodevelopmental abnormality	54872	PIGG	OMIM:616917
HP:0012759	Neurodevelopmental abnormality	7737	RNF113A	OMIM:300953
HP:0012759	Neurodevelopmental abnormality	22931	RAB18	OMIM:614222
HP:0012759	Neurodevelopmental abnormality	285175	UNC80	OMIM:616801
HP:0012759	Neurodevelopmental abnormality	51091	SEPSECS	OMIM:613811
HP:0012759	Neurodevelopmental abnormality	56270	WDR45B	OMIM:617977
HP:0012759	Neurodevelopmental abnormality	51611	DPH5	OMIM:620070
HP:0012759	Neurodevelopmental abnormality	2571	GAD1	OMIM:619124
HP:0012759	Neurodevelopmental abnormality	51124	IER3IP1	OMIM:614231
HP:0012759	Neurodevelopmental abnormality	55704	CCDC88A	OMIM:617507
HP:0012759	Neurodevelopmental abnormality	100506658	OCLN	OMIM:251290
HP:0012759	Neurodevelopmental abnormality	471	ATIC	OMIM:608688
HP:0012759	Neurodevelopmental abnormality	2271	FH	OMIM:606812
HP:0012759	Neurodevelopmental abnormality	5296	PIK3R2	OMIM:603387
HP:0012759	Neurodevelopmental abnormality	529	ATP6V1E1	ORPHA:357074
HP:0012759	Neurodevelopmental abnormality	51294	PCDH12	OMIM:251280
HP:0012759	Neurodevelopmental abnormality	58497	PRUNE1	OMIM:617481
HP:0012759	Neurodevelopmental abnormality	54344	DPM3	ORPHA:263494
HP:0012759	Neurodevelopmental abnormality	3329	HSPD1	OMIM:612233
HP:0012759	Neurodevelopmental abnormality	4625	MYH7	ORPHA:324604
HP:0012759	Neurodevelopmental abnormality	23769	FLRT1	ORPHA:320406
HP:0012759	Neurodevelopmental abnormality	5351	PLOD1	OMIM:225400
HP:0012759	Neurodevelopmental abnormality	5351	PLOD1	ORPHA:1900
HP:0012759	Neurodevelopmental abnormality	4618	MYF6	ORPHA:169189
HP:0012759	Neurodevelopmental abnormality	5251	PHEX	OMIM:307800
HP:0012759	Neurodevelopmental abnormality	55687	TRMU	ORPHA:254864
HP:0012759	Neurodevelopmental abnormality	1186	CLCN7	OMIM:618541
HP:0012759	Neurodevelopmental abnormality	3035	HARS1	OMIM:614504
HP:0012759	Neurodevelopmental abnormality	2248	FGF3	OMIM:610706
HP:0012759	Neurodevelopmental abnormality	8720	MBTPS1	OMIM:618392
HP:0012759	Neurodevelopmental abnormality	3198	HOXA1	OMIM:601536
HP:0012759	Neurodevelopmental abnormality	4038	LRP4	ORPHA:98913
HP:0012759	Neurodevelopmental abnormality	4038	LRP4	OMIM:212780
HP:0012759	Neurodevelopmental abnormality	1140	CHRNB1	ORPHA:98913
HP:0012759	Neurodevelopmental abnormality	4593	MUSK	ORPHA:98913
HP:0012759	Neurodevelopmental abnormality	5913	RAPSN	ORPHA:98913
HP:0012759	Neurodevelopmental abnormality	221264	AK9	ORPHA:98913
HP:0012759	Neurodevelopmental abnormality	285489	DOK7	ORPHA:98913
HP:0012759	Neurodevelopmental abnormality	5479	PPIB	OMIM:259440
HP:0012759	Neurodevelopmental abnormality	9927	MFN2	OMIM:617087
HP:0012759	Neurodevelopmental abnormality	7043	TGFB3	OMIM:615582
HP:0012759	Neurodevelopmental abnormality	50651	SLC45A1	OMIM:617532
HP:0012759	Neurodevelopmental abnormality	54968	TMEM70	ORPHA:1194
HP:0012759	Neurodevelopmental abnormality	1278	COL1A2	ORPHA:230851
HP:0012759	Neurodevelopmental abnormality	25914	RTTN	OMIM:614833
HP:0012759	Neurodevelopmental abnormality	2192	FBLN1	ORPHA:404451
HP:0012759	Neurodevelopmental abnormality	81857	MED25	ORPHA:464738
HP:0012759	Neurodevelopmental abnormality	343641	TGM6	ORPHA:276193
HP:0012759	Neurodevelopmental abnormality	2961	GTF2E2	OMIM:616943
HP:0012759	Neurodevelopmental abnormality	4556	MT-TE	ORPHA:2596
HP:0012759	Neurodevelopmental abnormality	3798	KIF5A	ORPHA:100991
HP:0012759	Neurodevelopmental abnormality	51117	COQ4	OMIM:616276
HP:0012759	Neurodevelopmental abnormality	10765	KDM5B	OMIM:618109
HP:0012759	Neurodevelopmental abnormality	10586	MAB21L2	OMIM:615877
HP:0012759	Neurodevelopmental abnormality	1950	EGF	OMIM:611718
HP:0012759	Neurodevelopmental abnormality	51103	NDUFAF1	OMIM:618234
HP:0012759	Neurodevelopmental abnormality	79133	NDUFAF5	OMIM:618238
HP:0012759	Neurodevelopmental abnormality	6301	SARS1	OMIM:617709
HP:0012759	Neurodevelopmental abnormality	84679	SLC9A7	OMIM:301024
HP:0012759	Neurodevelopmental abnormality	166378	AFG2A	ORPHA:457351
HP:0012759	Neurodevelopmental abnormality	80185	TTI2	OMIM:615541
HP:0012759	Neurodevelopmental abnormality	80185	TTI2	ORPHA:391307
HP:0012759	Neurodevelopmental abnormality	8812	CCNK	OMIM:618147
HP:0012759	Neurodevelopmental abnormality	27107	ZBTB11	OMIM:618383
HP:0012759	Neurodevelopmental abnormality	1861	TOR1A	OMIM:618947
HP:0012759	Neurodevelopmental abnormality	131669	UROC1	OMIM:276880
HP:0012759	Neurodevelopmental abnormality	9918	NCAPD2	OMIM:617983
HP:0012759	Neurodevelopmental abnormality	55755	CDK5RAP2	OMIM:604804
HP:0012759	Neurodevelopmental abnormality	6472	SHMT2	OMIM:619121
HP:0012759	Neurodevelopmental abnormality	23397	NCAPH	OMIM:617985
HP:0012759	Neurodevelopmental abnormality	5495	PPM1B	ORPHA:163693
HP:0012759	Neurodevelopmental abnormality	6519	SLC3A1	ORPHA:163693
HP:0012759	Neurodevelopmental abnormality	9581	PREPL	ORPHA:163693
HP:0012759	Neurodevelopmental abnormality	79823	CAMKMT	ORPHA:163693
HP:0012759	Neurodevelopmental abnormality	4081	MAB21L1	ORPHA:495875
HP:0012759	Neurodevelopmental abnormality	11141	IL1RAPL1	OMIM:300143
HP:0012759	Neurodevelopmental abnormality	10369	CACNG2	OMIM:614256
HP:0012759	Neurodevelopmental abnormality	284217	LAMA1	ORPHA:370022
HP:0012759	Neurodevelopmental abnormality	5138	PDE2A	OMIM:619150
HP:0012759	Neurodevelopmental abnormality	26960	NBEA	OMIM:619157
HP:0012759	Neurodevelopmental abnormality	343450	KCNT2	OMIM:617771
HP:0012759	Neurodevelopmental abnormality	27247	NFU1	OMIM:620938
HP:0012759	Neurodevelopmental abnormality	27247	NFU1	OMIM:605711
HP:0012759	Neurodevelopmental abnormality	10973	ASCC3	OMIM:620700
HP:0012759	Neurodevelopmental abnormality	7360	UGP2	OMIM:618744
HP:0012759	Neurodevelopmental abnormality	23236	PLCB1	ORPHA:293181
HP:0012759	Neurodevelopmental abnormality	23236	PLCB1	ORPHA:3451
HP:0012759	Neurodevelopmental abnormality	23236	PLCB1	OMIM:613722
HP:0012759	Neurodevelopmental abnormality	5277	PIGA	ORPHA:293181
HP:0012759	Neurodevelopmental abnormality	5277	PIGA	ORPHA:3451
HP:0012759	Neurodevelopmental abnormality	5277	PIGA	OMIM:301072
HP:0012759	Neurodevelopmental abnormality	5277	PIGA	OMIM:300868
HP:0012759	Neurodevelopmental abnormality	51816	ADA2	ORPHA:820
HP:0012759	Neurodevelopmental abnormality	51	ACOX1	ORPHA:2971
HP:0012759	Neurodevelopmental abnormality	51	ACOX1	OMIM:264470
HP:0012759	Neurodevelopmental abnormality	4072	EPCAM	ORPHA:144
HP:0012759	Neurodevelopmental abnormality	4292	MLH1	ORPHA:144
HP:0012759	Neurodevelopmental abnormality	5395	PMS2	ORPHA:144
HP:0012759	Neurodevelopmental abnormality	2956	MSH6	ORPHA:144
HP:0012759	Neurodevelopmental abnormality	5378	PMS1	ORPHA:144
HP:0012759	Neurodevelopmental abnormality	4436	MSH2	ORPHA:144
HP:0012759	Neurodevelopmental abnormality	5660	PSAP	OMIM:249900
HP:0012759	Neurodevelopmental abnormality	5660	PSAP	ORPHA:309271
HP:0012759	Neurodevelopmental abnormality	5660	PSAP	ORPHA:309263
HP:0012759	Neurodevelopmental abnormality	5660	PSAP	OMIM:610539
HP:0012759	Neurodevelopmental abnormality	5660	PSAP	ORPHA:309256
HP:0012759	Neurodevelopmental abnormality	4536	MT-ND2	ORPHA:255210
HP:0012759	Neurodevelopmental abnormality	4537	MT-ND3	ORPHA:255210
HP:0012759	Neurodevelopmental abnormality	4577	MT-TV	ORPHA:255210
HP:0012759	Neurodevelopmental abnormality	4508	MT-ATP6	ORPHA:255210
HP:0012759	Neurodevelopmental abnormality	4508	MT-ATP6	ORPHA:225154
HP:0012759	Neurodevelopmental abnormality	4566	MT-TK	ORPHA:255210
HP:0012759	Neurodevelopmental abnormality	51218	GLRX5	ORPHA:401866
HP:0012759	Neurodevelopmental abnormality	51112	TRAPPC12	ORPHA:500144
HP:0012759	Neurodevelopmental abnormality	51112	TRAPPC12	OMIM:617669
HP:0012759	Neurodevelopmental abnormality	3020	H3-3A	OMIM:619720
HP:0012759	Neurodevelopmental abnormality	65993	MRPS34	OMIM:617664
HP:0012759	Neurodevelopmental abnormality	644096	SDHAF1	OMIM:619166
HP:0012759	Neurodevelopmental abnormality	644096	SDHAF1	ORPHA:3208
HP:0012759	Neurodevelopmental abnormality	64218	SEMA4A	ORPHA:440437
HP:0012759	Neurodevelopmental abnormality	472	ATM	ORPHA:440437
HP:0012759	Neurodevelopmental abnormality	5426	POLE	ORPHA:440437
HP:0012759	Neurodevelopmental abnormality	6224	RPS20	ORPHA:440437
HP:0012759	Neurodevelopmental abnormality	4595	MUTYH	ORPHA:440437
HP:0012759	Neurodevelopmental abnormality	5424	POLD1	ORPHA:440437
HP:0012759	Neurodevelopmental abnormality	11200	CHEK2	ORPHA:440437
HP:0012759	Neurodevelopmental abnormality	790	CAD	OMIM:616457
HP:0012759	Neurodevelopmental abnormality	2670	GFAP	OMIM:203450
HP:0012759	Neurodevelopmental abnormality	10501	SEMA6B	OMIM:618876
HP:0012759	Neurodevelopmental abnormality	128486	FITM2	OMIM:618635
HP:0012759	Neurodevelopmental abnormality	8029	CUBN	ORPHA:35858
HP:0012759	Neurodevelopmental abnormality	81693	AMN	ORPHA:35858
HP:0012759	Neurodevelopmental abnormality	3735	KARS1	ORPHA:3240
HP:0012759	Neurodevelopmental abnormality	3735	KARS1	OMIM:619147
HP:0012759	Neurodevelopmental abnormality	4718	NDUFC2	OMIM:619170
HP:0012759	Neurodevelopmental abnormality	3074	HEXB	ORPHA:309155
HP:0012759	Neurodevelopmental abnormality	3074	HEXB	OMIM:268800
HP:0012759	Neurodevelopmental abnormality	23250	ATP11A	OMIM:619851
HP:0012759	Neurodevelopmental abnormality	103	ADAR	OMIM:615010
HP:0012759	Neurodevelopmental abnormality	103	ADAR	ORPHA:51
HP:0012759	Neurodevelopmental abnormality	103	ADAR	ORPHA:225154
HP:0012759	Neurodevelopmental abnormality	7343	UBTF	OMIM:617672
HP:0012759	Neurodevelopmental abnormality	7343	UBTF	ORPHA:500180
HP:0012759	Neurodevelopmental abnormality	55037	PTCD3	OMIM:619057
HP:0012759	Neurodevelopmental abnormality	3064	HTT	OMIM:617435
HP:0012759	Neurodevelopmental abnormality	3423	IDS	ORPHA:217085
HP:0012759	Neurodevelopmental abnormality	3423	IDS	ORPHA:217093
HP:0012759	Neurodevelopmental abnormality	93627	TBCK	OMIM:616900
HP:0012759	Neurodevelopmental abnormality	93627	TBCK	ORPHA:488632
HP:0012759	Neurodevelopmental abnormality	54675	CRLS1	OMIM:620167
HP:0012759	Neurodevelopmental abnormality	100303755	PET117	OMIM:619063
HP:0012759	Neurodevelopmental abnormality	7274	TTPA	ORPHA:96
HP:0012759	Neurodevelopmental abnormality	80856	LNPK	OMIM:618090
HP:0012759	Neurodevelopmental abnormality	1327	COX4I1	OMIM:619060
HP:0012759	Neurodevelopmental abnormality	388962	BOLA3	OMIM:614299
HP:0012759	Neurodevelopmental abnormality	79731	NARS2	OMIM:616239
HP:0012759	Neurodevelopmental abnormality	284439	SLC25A42	OMIM:618416
HP:0012759	Neurodevelopmental abnormality	112755	STX1B	ORPHA:36387
HP:0012759	Neurodevelopmental abnormality	2258	FGF13	ORPHA:36387
HP:0012759	Neurodevelopmental abnormality	2258	FGF13	OMIM:301058
HP:0012759	Neurodevelopmental abnormality	84059	ADGRV1	ORPHA:36387
HP:0012759	Neurodevelopmental abnormality	1267	CNP	OMIM:619071
HP:0012759	Neurodevelopmental abnormality	8879	SGPL1	OMIM:617575
HP:0012759	Neurodevelopmental abnormality	57282	SLC4A10	OMIM:620746
HP:0012759	Neurodevelopmental abnormality	8021	NUP214	OMIM:618426
HP:0012759	Neurodevelopmental abnormality	80704	SLC19A3	OMIM:607483
HP:0012759	Neurodevelopmental abnormality	122961	ISCA2	OMIM:616370
HP:0012759	Neurodevelopmental abnormality	2232	FDXR	ORPHA:543470
HP:0012759	Neurodevelopmental abnormality	56947	MFF	ORPHA:485421
HP:0012759	Neurodevelopmental abnormality	56947	MFF	OMIM:617086
HP:0012759	Neurodevelopmental abnormality	10695	CNPY3	ORPHA:3451
HP:0012759	Neurodevelopmental abnormality	60558	GUF1	ORPHA:3451
HP:0012759	Neurodevelopmental abnormality	3662	IRF4	ORPHA:3452
HP:0012759	Neurodevelopmental abnormality	10667	FARS2	ORPHA:466722
HP:0012759	Neurodevelopmental abnormality	55670	PEX26	ORPHA:44
HP:0012759	Neurodevelopmental abnormality	5824	PEX19	ORPHA:44
HP:0012759	Neurodevelopmental abnormality	8504	PEX3	ORPHA:44
HP:0012759	Neurodevelopmental abnormality	5194	PEX13	ORPHA:44
HP:0012759	Neurodevelopmental abnormality	5195	PEX14	ORPHA:44
HP:0012759	Neurodevelopmental abnormality	5192	PEX10	ORPHA:44
HP:0012759	Neurodevelopmental abnormality	55739	NAXD	OMIM:618321
HP:0012759	Neurodevelopmental abnormality	10463	SLC30A9	OMIM:617595
HP:0012759	Neurodevelopmental abnormality	84833	ATP5MK	OMIM:618683
HP:0012759	Neurodevelopmental abnormality	6389	SDHA	ORPHA:3208
HP:0012759	Neurodevelopmental abnormality	6389	SDHA	OMIM:252011
HP:0012759	Neurodevelopmental abnormality	54148	MRPL39	OMIM:620646
HP:0012759	Neurodevelopmental abnormality	1967	EIF2B1	OMIM:603896
HP:0012759	Neurodevelopmental abnormality	51693	TRAPPC2L	OMIM:618331
HP:0012759	Neurodevelopmental abnormality	2581	GALC	OMIM:245200
HP:0012759	Neurodevelopmental abnormality	2581	GALC	ORPHA:206443
HP:0012759	Neurodevelopmental abnormality	10535	RNASEH2A	ORPHA:51
HP:0012759	Neurodevelopmental abnormality	84153	RNASEH2C	ORPHA:51
HP:0012759	Neurodevelopmental abnormality	25939	SAMHD1	ORPHA:51
HP:0012759	Neurodevelopmental abnormality	79621	RNASEH2B	ORPHA:51
HP:0012759	Neurodevelopmental abnormality	11277	TREX1	ORPHA:51
HP:0012759	Neurodevelopmental abnormality	100147744	RNU7-1	ORPHA:51
HP:0012759	Neurodevelopmental abnormality	134353	LSM11	ORPHA:51
HP:0012759	Neurodevelopmental abnormality	9900	SV2A	OMIM:620772
HP:0012759	Neurodevelopmental abnormality	7508	XPC	ORPHA:910
HP:0012759	Neurodevelopmental abnormality	1643	DDB2	ORPHA:910
HP:0012759	Neurodevelopmental abnormality	149233	IL23R	ORPHA:117
HP:0012759	Neurodevelopmental abnormality	6775	STAT4	ORPHA:117
HP:0012759	Neurodevelopmental abnormality	3586	IL10	ORPHA:117
HP:0012759	Neurodevelopmental abnormality	4210	MEFV	ORPHA:117
HP:0012759	Neurodevelopmental abnormality	1230	CCR1	ORPHA:117
HP:0012759	Neurodevelopmental abnormality	355	FAS	ORPHA:117
HP:0012759	Neurodevelopmental abnormality	3592	IL12A	ORPHA:117
HP:0012759	Neurodevelopmental abnormality	101928376	IL12A-AS1	ORPHA:117
HP:0012759	Neurodevelopmental abnormality	3106	HLA-B	ORPHA:117
HP:0012759	Neurodevelopmental abnormality	7099	TLR4	ORPHA:117
HP:0012759	Neurodevelopmental abnormality	3459	IFNGR1	ORPHA:117
HP:0012759	Neurodevelopmental abnormality	720	C4A	ORPHA:117
HP:0012759	Neurodevelopmental abnormality	337867	UBAC2	ORPHA:117
HP:0012759	Neurodevelopmental abnormality	51752	ERAP1	ORPHA:117
HP:0012759	Neurodevelopmental abnormality	8302	KLRC4	ORPHA:117
HP:0012759	Neurodevelopmental abnormality	2639	GCDH	ORPHA:25
HP:0012759	Neurodevelopmental abnormality	2639	GCDH	OMIM:231670
HP:0012759	Neurodevelopmental abnormality	10059	DNM1L	ORPHA:330050
HP:0012759	Neurodevelopmental abnormality	374291	NDUFS7	OMIM:618224
HP:0012759	Neurodevelopmental abnormality	4723	NDUFV1	OMIM:618225
HP:0012759	Neurodevelopmental abnormality	4719	NDUFS1	OMIM:618226
HP:0012759	Neurodevelopmental abnormality	4720	NDUFS2	OMIM:618228
HP:0012759	Neurodevelopmental abnormality	4729	NDUFV2	OMIM:618229
HP:0012759	Neurodevelopmental abnormality	959	CD40LG	OMIM:308230
HP:0012759	Neurodevelopmental abnormality	5515	PPP2CA	OMIM:618354
HP:0012759	Neurodevelopmental abnormality	23102	TBC1D2B	OMIM:619323
HP:0012759	Neurodevelopmental abnormality	64801	ARV1	OMIM:617020
HP:0012759	Neurodevelopmental abnormality	51601	LIPT1	OMIM:616299
HP:0012759	Neurodevelopmental abnormality	57505	AARS2	OMIM:615889
HP:0012759	Neurodevelopmental abnormality	137682	NDUFAF6	OMIM:618239
HP:0012759	Neurodevelopmental abnormality	8869	ST3GAL5	OMIM:609056
HP:0012759	Neurodevelopmental abnormality	7084	TK2	ORPHA:254875
HP:0012759	Neurodevelopmental abnormality	2560	GABRB1	OMIM:617153
HP:0012759	Neurodevelopmental abnormality	23229	ARHGEF9	ORPHA:163985
HP:0012759	Neurodevelopmental abnormality	23229	ARHGEF9	OMIM:300607
HP:0012759	Neurodevelopmental abnormality	2058	EPRS1	OMIM:617951
HP:0012759	Neurodevelopmental abnormality	9378	NRXN1	OMIM:614325
HP:0012759	Neurodevelopmental abnormality	819	CAMLG	OMIM:620201
HP:0012759	Neurodevelopmental abnormality	2717	GLA	ORPHA:324
HP:0012759	Neurodevelopmental abnormality	27010	TPK1	OMIM:614458
HP:0012759	Neurodevelopmental abnormality	55697	VAC14	OMIM:617054
HP:0012759	Neurodevelopmental abnormality	81689	ISCA1	OMIM:617613
HP:0012759	Neurodevelopmental abnormality	7305	TYROBP	ORPHA:2770
HP:0012759	Neurodevelopmental abnormality	8936	WASF1	OMIM:618707
HP:0012759	Neurodevelopmental abnormality	10128	LRPPRC	ORPHA:70472
HP:0012759	Neurodevelopmental abnormality	128240	NAXE	OMIM:617186
HP:0012759	Neurodevelopmental abnormality	2760	GM2A	ORPHA:309246
HP:0012759	Neurodevelopmental abnormality	84340	GFM2	OMIM:618397
HP:0012759	Neurodevelopmental abnormality	23287	AGTPBP1	OMIM:618276
HP:0012759	Neurodevelopmental abnormality	1200	TPP1	OMIM:204500
HP:0012759	Neurodevelopmental abnormality	7284	TUFM	OMIM:610678
HP:0012759	Neurodevelopmental abnormality	5264	PHYH	ORPHA:773
HP:0012759	Neurodevelopmental abnormality	10479	SLC9A6	ORPHA:85278
HP:0012759	Neurodevelopmental abnormality	777	CACNA1E	OMIM:618285
HP:0012759	Neurodevelopmental abnormality	200205	IBA57	OMIM:615330
HP:0012759	Neurodevelopmental abnormality	4724	NDUFS4	OMIM:252010
HP:0012759	Neurodevelopmental abnormality	131118	DNAJC19	ORPHA:66634
HP:0012759	Neurodevelopmental abnormality	4693	NDP	ORPHA:649
HP:0012759	Neurodevelopmental abnormality	124454	EARS2	OMIM:614924
HP:0012759	Neurodevelopmental abnormality	54936	ADPRS	OMIM:618170
HP:0012759	Neurodevelopmental abnormality	8665	EIF3F	OMIM:618295
HP:0012759	Neurodevelopmental abnormality	55331	ACER3	OMIM:617762
HP:0012759	Neurodevelopmental abnormality	341208	HEPHL1	OMIM:261990
HP:0012759	Neurodevelopmental abnormality	267	AMFR	OMIM:620379
HP:0012759	Neurodevelopmental abnormality	25886	POC1A	OMIM:614813
HP:0012759	Neurodevelopmental abnormality	26275	HIBCH	OMIM:250620
HP:0012759	Neurodevelopmental abnormality	65055	REEP1	OMIM:620011
HP:0012759	Neurodevelopmental abnormality	25978	CHMP2B	OMIM:600795
HP:0012759	Neurodevelopmental abnormality	25978	CHMP2B	ORPHA:275864
HP:0012759	Neurodevelopmental abnormality	1540	CYLD	OMIM:619132
HP:0012759	Neurodevelopmental abnormality	2896	GRN	ORPHA:275864
HP:0012759	Neurodevelopmental abnormality	8878	SQSTM1	ORPHA:275864
HP:0012759	Neurodevelopmental abnormality	8878	SQSTM1	ORPHA:275872
HP:0012759	Neurodevelopmental abnormality	4137	MAPT	ORPHA:275864
HP:0012759	Neurodevelopmental abnormality	2521	FUS	ORPHA:275872
HP:0012759	Neurodevelopmental abnormality	23435	TARDBP	ORPHA:275872
HP:0012759	Neurodevelopmental abnormality	400916	CHCHD10	ORPHA:275872
HP:0012759	Neurodevelopmental abnormality	203228	C9orf72	OMIM:105550
HP:0012759	Neurodevelopmental abnormality	8565	YARS1	OMIM:619418
HP:0012759	Neurodevelopmental abnormality	1509	CTSD	OMIM:610127
HP:0012759	Neurodevelopmental abnormality	55343	SLC35C1	OMIM:266265
HP:0012759	Neurodevelopmental abnormality	8803	SUCLA2	OMIM:612073
HP:0012759	Neurodevelopmental abnormality	8803	SUCLA2	ORPHA:1933
HP:0012759	Neurodevelopmental abnormality	1482	NKX2-5	OMIM:225250
HP:0012759	Neurodevelopmental abnormality	1760	DMPK	OMIM:160900
HP:0012759	Neurodevelopmental abnormality	9179	AP4M1	OMIM:612936
HP:0012759	Neurodevelopmental abnormality	59344	ALOXE3	OMIM:242100
HP:0012759	Neurodevelopmental abnormality	242	ALOX12B	OMIM:242100
HP:0012759	Neurodevelopmental abnormality	318	NUDT2	OMIM:619844
HP:0012759	Neurodevelopmental abnormality	5010	CLDN11	OMIM:619328
HP:0012759	Neurodevelopmental abnormality	3778	KCNMA1	ORPHA:79137
HP:0012759	Neurodevelopmental abnormality	176	ACAN	ORPHA:435804
HP:0012759	Neurodevelopmental abnormality	9326	ZNHIT3	OMIM:260565
HP:0012759	Neurodevelopmental abnormality	25930	PTPN23	OMIM:618890
HP:0012759	Neurodevelopmental abnormality	5917	RARS1	ORPHA:438114
HP:0012759	Neurodevelopmental abnormality	5430	POLR2A	OMIM:618603
HP:0012759	Neurodevelopmental abnormality	6050	RNH1	OMIM:620461
HP:0012759	Neurodevelopmental abnormality	161582	DNAAF4	OMIM:127700
HP:0012759	Neurodevelopmental abnormality	6786	STIM1	OMIM:185070
HP:0012759	Neurodevelopmental abnormality	6515	SLC2A3	ORPHA:399
HP:0012759	Neurodevelopmental abnormality	5575	PRKAR1B	ORPHA:412066
HP:0012759	Neurodevelopmental abnormality	7314	UBB	ORPHA:99772
HP:0012759	Neurodevelopmental abnormality	57822	GRHL3	ORPHA:99772
HP:0012759	Neurodevelopmental abnormality	2590	GALNT2	OMIM:618885
HP:0012759	Neurodevelopmental abnormality	818	CAMK2G	OMIM:618522
HP:0012759	Neurodevelopmental abnormality	7469	NELFA	ORPHA:280
HP:0012759	Neurodevelopmental abnormality	9037	SEMA5A	ORPHA:281
HP:0012759	Neurodevelopmental abnormality	4247	MGAT2	OMIM:212066
HP:0012759	Neurodevelopmental abnormality	29081	METTL5	OMIM:618665
HP:0012759	Neurodevelopmental abnormality	29081	METTL5	ORPHA:2512
HP:0012759	Neurodevelopmental abnormality	10717	AP4B1	OMIM:614066
HP:0012759	Neurodevelopmental abnormality	10717	AP4B1	ORPHA:280763
HP:0012759	Neurodevelopmental abnormality	84879	MFSD2A	OMIM:616486
HP:0012759	Neurodevelopmental abnormality	84879	MFSD2A	ORPHA:2512
HP:0012759	Neurodevelopmental abnormality	11154	AP4S1	OMIM:614067
HP:0012759	Neurodevelopmental abnormality	11154	AP4S1	ORPHA:280763
HP:0012759	Neurodevelopmental abnormality	55773	TBC1D23	OMIM:617695
HP:0012759	Neurodevelopmental abnormality	51633	OTUD6B	OMIM:617452
HP:0012759	Neurodevelopmental abnormality	51633	OTUD6B	ORPHA:505237
HP:0012759	Neurodevelopmental abnormality	27089	UQCRQ	OMIM:615159
HP:0012759	Neurodevelopmental abnormality	9354	UBE4A	OMIM:619639
HP:0012759	Neurodevelopmental abnormality	92609	TIMM50	OMIM:617698
HP:0012759	Neurodevelopmental abnormality	92609	TIMM50	ORPHA:505216
HP:0012759	Neurodevelopmental abnormality	54828	BCAS3	OMIM:619641
HP:0012759	Neurodevelopmental abnormality	3800	KIF5C	OMIM:615282
HP:0012759	Neurodevelopmental abnormality	4208	MEF2C	ORPHA:228384
HP:0012759	Neurodevelopmental abnormality	4208	MEF2C	OMIM:613443
HP:0012759	Neurodevelopmental abnormality	197258	FCSK	OMIM:618324
HP:0012759	Neurodevelopmental abnormality	9922	IQSEC1	OMIM:618687
HP:0012759	Neurodevelopmental abnormality	388662	SLC6A17	OMIM:616269
HP:0012759	Neurodevelopmental abnormality	388662	SLC6A17	ORPHA:457212
HP:0012759	Neurodevelopmental abnormality	9526	MPDU1	ORPHA:79323
HP:0012759	Neurodevelopmental abnormality	26100	WIPI2	OMIM:618453
HP:0012759	Neurodevelopmental abnormality	51645	PPIL1	OMIM:619301
HP:0012759	Neurodevelopmental abnormality	51362	CDC40	OMIM:619302
HP:0012759	Neurodevelopmental abnormality	5881	RAC3	OMIM:618577
HP:0012759	Neurodevelopmental abnormality	51574	LARP7	OMIM:615071
HP:0012759	Neurodevelopmental abnormality	51574	LARP7	ORPHA:319671
HP:0012759	Neurodevelopmental abnormality	57459	GATAD2B	OMIM:615074
HP:0012759	Neurodevelopmental abnormality	57459	GATAD2B	ORPHA:363686
HP:0012759	Neurodevelopmental abnormality	84894	LINGO1	OMIM:618103
HP:0012759	Neurodevelopmental abnormality	55628	ZNF407	OMIM:619557
HP:0012759	Neurodevelopmental abnormality	79868	ALG13	OMIM:300884
HP:0012759	Neurodevelopmental abnormality	8492	PRSS12	OMIM:249500
HP:0012759	Neurodevelopmental abnormality	79709	COLGALT1	OMIM:618360
HP:0012759	Neurodevelopmental abnormality	6821	SUOX	OMIM:272300
HP:0012759	Neurodevelopmental abnormality	6045	RNF2	OMIM:619460
HP:0012759	Neurodevelopmental abnormality	1781	DYNC1I2	OMIM:618492
HP:0012759	Neurodevelopmental abnormality	10524	KAT5	OMIM:619103
HP:0012759	Neurodevelopmental abnormality	2009	EML1	OMIM:600348
HP:0012759	Neurodevelopmental abnormality	5281	PIGF	OMIM:619356
HP:0012759	Neurodevelopmental abnormality	1528	CYB5A	ORPHA:621
HP:0012759	Neurodevelopmental abnormality	5058	PAK1	OMIM:618158
HP:0012759	Neurodevelopmental abnormality	57477	SHROOM4	ORPHA:85288
HP:0012759	Neurodevelopmental abnormality	1315	COPB1	OMIM:619255
HP:0012759	Neurodevelopmental abnormality	81615	TMEM163	OMIM:620243
HP:0012759	Neurodevelopmental abnormality	1496	CTNNA2	OMIM:618174
HP:0012759	Neurodevelopmental abnormality	199857	ALG14	OMIM:619031
HP:0012759	Neurodevelopmental abnormality	27183	VPS4A	OMIM:619273
HP:0012759	Neurodevelopmental abnormality	10134	BCAP31	OMIM:300475
HP:0012759	Neurodevelopmental abnormality	7109	TRAPPC10	OMIM:620027
HP:0012759	Neurodevelopmental abnormality	7109	TRAPPC10	ORPHA:2512
HP:0012759	Neurodevelopmental abnormality	9690	UBE3C	OMIM:620270
HP:0012759	Neurodevelopmental abnormality	4010	LMX1B	ORPHA:495818
HP:0012759	Neurodevelopmental abnormality	5689	PSMB1	OMIM:620038
HP:0012759	Neurodevelopmental abnormality	23431	AP4E1	OMIM:613744
HP:0012759	Neurodevelopmental abnormality	23431	AP4E1	ORPHA:280763
HP:0012759	Neurodevelopmental abnormality	275	AMT	OMIM:620398
HP:0012759	Neurodevelopmental abnormality	7175	TPR	OMIM:620393
HP:0012759	Neurodevelopmental abnormality	894	CCND2	OMIM:615938
HP:0012759	Neurodevelopmental abnormality	51199	NIN	OMIM:614851
HP:0012759	Neurodevelopmental abnormality	51199	NIN	ORPHA:319675
HP:0012759	Neurodevelopmental abnormality	53834	FGFRL1	OMIM:194190
HP:0012759	Neurodevelopmental abnormality	5700	PSMC1	OMIM:620071
HP:0012759	Neurodevelopmental abnormality	6558	SLC12A2	OMIM:619080
HP:0012759	Neurodevelopmental abnormality	54862	CC2D1A	OMIM:608443
HP:0012759	Neurodevelopmental abnormality	55084	SOBP	OMIM:613671
HP:0012759	Neurodevelopmental abnormality	9662	CEP135	OMIM:614673
HP:0012759	Neurodevelopmental abnormality	9662	CEP135	ORPHA:2512
HP:0012759	Neurodevelopmental abnormality	91869	RFT1	OMIM:612015
HP:0012759	Neurodevelopmental abnormality	50	ACO2	OMIM:614559
HP:0012759	Neurodevelopmental abnormality	7849	PAX8	ORPHA:95720
HP:0012759	Neurodevelopmental abnormality	7849	PAX8	ORPHA:95713
HP:0012759	Neurodevelopmental abnormality	7849	PAX8	ORPHA:95712
HP:0012759	Neurodevelopmental abnormality	63035	BCORL1	OMIM:301029
HP:0012759	Neurodevelopmental abnormality	55969	RAB5IF	OMIM:616994
HP:0012759	Neurodevelopmental abnormality	163786	SASS6	OMIM:616402
HP:0012759	Neurodevelopmental abnormality	163786	SASS6	ORPHA:2512
HP:0012759	Neurodevelopmental abnormality	64857	PLEKHG2	OMIM:616763
HP:0012759	Neurodevelopmental abnormality	23630	KCNE5	ORPHA:86818
HP:0012759	Neurodevelopmental abnormality	122553	TRAPPC6B	OMIM:617862
HP:0012759	Neurodevelopmental abnormality	2806	GOT2	OMIM:618721
HP:0012759	Neurodevelopmental abnormality	57731	SPTBN4	OMIM:617519
HP:0012759	Neurodevelopmental abnormality	4176	MCM7	ORPHA:2512
HP:0012759	Neurodevelopmental abnormality	23310	NCAPD3	ORPHA:2512
HP:0012759	Neurodevelopmental abnormality	23141	ANKLE2	ORPHA:2512
HP:0012759	Neurodevelopmental abnormality	1911	PHC1	ORPHA:2512
HP:0012759	Neurodevelopmental abnormality	51075	TMX2	OMIM:618730
HP:0012759	Neurodevelopmental abnormality	2036	EPB41L1	OMIM:614257
HP:0012759	Neurodevelopmental abnormality	6909	TBX2	OMIM:618223
HP:0012759	Neurodevelopmental abnormality	6495	SIX1	OMIM:113650
HP:0012759	Neurodevelopmental abnormality	29927	SEC61A1	OMIM:617056
HP:0012759	Neurodevelopmental abnormality	4173	MCM4	OMIM:609981
HP:0012759	Neurodevelopmental abnormality	51163	DBR1	OMIM:619441
HP:0012759	Neurodevelopmental abnormality	338657	CENATAC	OMIM:620153
HP:0012759	Neurodevelopmental abnormality	256297	PTF1A	OMIM:615935
HP:0012759	Neurodevelopmental abnormality	506	ATP5F1B	OMIM:620085
HP:0012759	Neurodevelopmental abnormality	1513	CTSK	ORPHA:763
HP:0012759	Neurodevelopmental abnormality	56160	NSMCE3	OMIM:617241
HP:0012759	Neurodevelopmental abnormality	7156	TOP3A	OMIM:618097
HP:0012759	Neurodevelopmental abnormality	5702	PSMC3	OMIM:619354
HP:0012759	Neurodevelopmental abnormality	54790	TET2	OMIM:619126
HP:0012759	Neurodevelopmental abnormality	497661	C18orf32	OMIM:619985
HP:0012759	Neurodevelopmental abnormality	8550	MAPKAPK5	OMIM:619869
HP:0012759	Neurodevelopmental abnormality	2752	GLUL	OMIM:610015
HP:0012759	Neurodevelopmental abnormality	149371	EXOC8	OMIM:619076
HP:0012759	Neurodevelopmental abnormality	79753	SNIP1	OMIM:614501
HP:0012759	Neurodevelopmental abnormality	3170	FOXA2	ORPHA:95494
HP:0012759	Neurodevelopmental abnormality	10436	EMG1	ORPHA:1270
HP:0012759	Neurodevelopmental abnormality	7358	UGDH	OMIM:618792
HP:0012759	Neurodevelopmental abnormality	55770	EXOC2	OMIM:619306
HP:0012759	Neurodevelopmental abnormality	55610	VPS50	OMIM:619685
HP:0012759	Neurodevelopmental abnormality	8882	ZPR1	OMIM:619321
HP:0012759	Neurodevelopmental abnormality	79068	FTO	OMIM:612938
HP:0012759	Neurodevelopmental abnormality	5934	RBL2	OMIM:619690
HP:0012759	Neurodevelopmental abnormality	63925	ZNF335	OMIM:615095
HP:0012759	Neurodevelopmental abnormality	60386	SLC25A19	ORPHA:99742
HP:0012759	Neurodevelopmental abnormality	8943	AP3D1	OMIM:617050
HP:0012759	Neurodevelopmental abnormality	4576	MT-TT	ORPHA:254857
HP:0012759	Neurodevelopmental abnormality	5167	ENPP1	ORPHA:51608
HP:0012759	Neurodevelopmental abnormality	368	ABCC6	ORPHA:51608
HP:0012759	Neurodevelopmental abnormality	5331	PLCB3	OMIM:618961
HP:0012759	Neurodevelopmental abnormality	738	VPS51	OMIM:618606
HP:0012759	Neurodevelopmental abnormality	5557	PRIM1	OMIM:620005
HP:0012759	Neurodevelopmental abnormality	91949	COG7	OMIM:608779
HP:0012759	Neurodevelopmental abnormality	116115	ZNF526	OMIM:619877
HP:0012759	Neurodevelopmental abnormality	2222	FDFT1	OMIM:618156
HP:0012759	Neurodevelopmental abnormality	5859	QARS1	OMIM:615760
HP:0012759	Neurodevelopmental abnormality	9570	GOSR2	OMIM:620166
HP:0012759	Neurodevelopmental abnormality	667	DST	OMIM:614653
HP:0012759	Neurodevelopmental abnormality	9419	CRIPT	OMIM:615789
HP:0012759	Neurodevelopmental abnormality	58499	ZNF462	ORPHA:502430
HP:0012759	Neurodevelopmental abnormality	5087	PBX1	ORPHA:97362
HP:0012759	Neurodevelopmental abnormality	84548	TMEM185A	ORPHA:100974
HP:0012759	Neurodevelopmental abnormality	346171	ZFP57	ORPHA:99886
HP:0012759	Neurodevelopmental abnormality	57061	HYMAI	ORPHA:99886
HP:0012759	Neurodevelopmental abnormality	5325	PLAGL1	ORPHA:99886
HP:0012759	Neurodevelopmental abnormality	23499	MACF1	ORPHA:572013
HP:0012759	Neurodevelopmental abnormality	7252	TSHB	ORPHA:90674
HP:0012759	Neurodevelopmental abnormality	1738	DLD	ORPHA:2394
HP:0012759	Neurodevelopmental abnormality	4509	MT-ATP8	ORPHA:254913
HP:0012759	Neurodevelopmental abnormality	513	ATP5F1D	ORPHA:254913
HP:0012759	Neurodevelopmental abnormality	91647	ATPAF2	ORPHA:254913
HP:0012759	Neurodevelopmental abnormality	3572	IL6ST	OMIM:618523
HP:0012759	Neurodevelopmental abnormality	4091	SMAD6	OMIM:617439
HP:0012759	Neurodevelopmental abnormality	171023	ASXL1	ORPHA:97297
HP:0012759	Neurodevelopmental abnormality	5092	PCBD1	ORPHA:1578
HP:0012759	Neurodevelopmental abnormality	10804	GJB6	ORPHA:477
HP:0012759	Neurodevelopmental abnormality	2706	GJB2	ORPHA:477
HP:0012759	Neurodevelopmental abnormality	54914	FOCAD	OMIM:619991
HP:0012759	Neurodevelopmental abnormality	5626	PROP1	ORPHA:226307
HP:0012759	Neurodevelopmental abnormality	5295	PIK3R1	OMIM:616005
HP:0012759	Neurodevelopmental abnormality	5295	PIK3R1	ORPHA:397596
HP:0012759	Neurodevelopmental abnormality	131405	TRIM71	OMIM:618667
HP:0012759	Neurodevelopmental abnormality	238	ALK	ORPHA:626
HP:0012759	Neurodevelopmental abnormality	5162	PDHB	ORPHA:255138
HP:0012759	Neurodevelopmental abnormality	1650	DDOST	ORPHA:300536
HP:0012759	Neurodevelopmental abnormality	9652	SKIC3	OMIM:222470
HP:0012759	Neurodevelopmental abnormality	4733	DRG1	OMIM:620641
HP:0012759	Neurodevelopmental abnormality	29929	ALG6	ORPHA:79320
HP:0012759	Neurodevelopmental abnormality	8813	DPM1	ORPHA:79322
HP:0012759	Neurodevelopmental abnormality	7201	TRHR	ORPHA:99832
HP:0012759	Neurodevelopmental abnormality	6138	RPL15	ORPHA:124
HP:0012759	Neurodevelopmental abnormality	6165	RPL35A	ORPHA:124
HP:0012759	Neurodevelopmental abnormality	6132	RPL8	ORPHA:124
HP:0012759	Neurodevelopmental abnormality	6232	RPS27	ORPHA:124
HP:0012759	Neurodevelopmental abnormality	55027	HEATR3	ORPHA:124
HP:0012759	Neurodevelopmental abnormality	6160	RPL31	ORPHA:124
HP:0012759	Neurodevelopmental abnormality	6201	RPS7	ORPHA:124
HP:0012759	Neurodevelopmental abnormality	6155	RPL27	ORPHA:124
HP:0012759	Neurodevelopmental abnormality	6234	RPS28	ORPHA:124
HP:0012759	Neurodevelopmental abnormality	6135	RPL11	ORPHA:124
HP:0012759	Neurodevelopmental abnormality	6229	RPS24	ORPHA:124
HP:0012759	Neurodevelopmental abnormality	6125	RPL5	ORPHA:124
HP:0012759	Neurodevelopmental abnormality	6204	RPS10	ORPHA:124
HP:0012759	Neurodevelopmental abnormality	2623	GATA1	ORPHA:124
HP:0012759	Neurodevelopmental abnormality	6133	RPL9	ORPHA:124
HP:0012759	Neurodevelopmental abnormality	6231	RPS26	ORPHA:124
HP:0012759	Neurodevelopmental abnormality	11224	RPL35	ORPHA:124
HP:0012759	Neurodevelopmental abnormality	6218	RPS17	ORPHA:124
HP:0012759	Neurodevelopmental abnormality	6154	RPL26	ORPHA:124
HP:0012759	Neurodevelopmental abnormality	6210	RPS15A	ORPHA:124
HP:0012759	Neurodevelopmental abnormality	90121	TSR2	ORPHA:124
HP:0012759	Neurodevelopmental abnormality	6141	RPL18	ORPHA:124
HP:0012759	Neurodevelopmental abnormality	6235	RPS29	ORPHA:124
HP:0012759	Neurodevelopmental abnormality	35	ACADS	ORPHA:26792
HP:0012759	Neurodevelopmental abnormality	3767	KCNJ11	ORPHA:276580
HP:0012759	Neurodevelopmental abnormality	6326	SCN2A	OMIM:607745
HP:0012759	Neurodevelopmental abnormality	6927	HNF1A	ORPHA:324575
HP:0012759	Neurodevelopmental abnormality	8913	CACNA1G	ORPHA:458803
HP:0012759	Neurodevelopmental abnormality	5631	PRPS1	ORPHA:411543
HP:0012759	Neurodevelopmental abnormality	9636	ISG15	OMIM:616126
HP:0012759	Neurodevelopmental abnormality	7381	UQCRB	OMIM:615158
HP:0012759	Neurodevelopmental abnormality	1135	CHRNA2	OMIM:610353
HP:0012759	Neurodevelopmental abnormality	7351	UCP2	ORPHA:276556
HP:0012759	Neurodevelopmental abnormality	2260	FGFR1	ORPHA:2396
HP:0012759	Neurodevelopmental abnormality	3845	KRAS	ORPHA:2396
HP:0012759	Neurodevelopmental abnormality	5663	PSEN1	ORPHA:1020
HP:0012759	Neurodevelopmental abnormality	5664	PSEN2	ORPHA:1020
HP:0012759	Neurodevelopmental abnormality	10452	TOMM40	ORPHA:1020
HP:0012759	Neurodevelopmental abnormality	351	APP	ORPHA:1020
HP:0012759	Neurodevelopmental abnormality	54209	TREM2	ORPHA:1020
HP:0012759	Neurodevelopmental abnormality	10347	ABCA7	ORPHA:1020
HP:0012759	Neurodevelopmental abnormality	6653	SORL1	ORPHA:1020
HP:0012759	Neurodevelopmental abnormality	112476	PRRT2	OMIM:605751
HP:0012759	Neurodevelopmental abnormality	112476	PRRT2	OMIM:602066
HP:0012759	Neurodevelopmental abnormality	2200	FBN1	OMIM:616914
HP:0012759	Neurodevelopmental abnormality	6833	ABCC8	ORPHA:276575
HP:0012759	Neurodevelopmental abnormality	267010	RNU12	ORPHA:512260
HP:0012759	Neurodevelopmental abnormality	23321	TRIM2	OMIM:615490
HP:0012759	Neurodevelopmental abnormality	88	ACTN2	OMIM:618654
HP:0012759	Neurodevelopmental abnormality	1576	CYP3A4	OMIM:619073
HP:0012759	Neurodevelopmental abnormality	57863	CADM3	OMIM:619519
HP:0012759	Neurodevelopmental abnormality	79879	CCDC134	OMIM:619795
HP:0012759	Neurodevelopmental abnormality	10342	TFG	OMIM:615658
HP:0012759	Neurodevelopmental abnormality	54463	RETREG1	OMIM:613115
HP:0012759	Neurodevelopmental abnormality	23233	EXOC6B	OMIM:618395
HP:0012759	Neurodevelopmental abnormality	57128	LYRM4	OMIM:615595
HP:0012759	Neurodevelopmental abnormality	1317	SLC31A1	OMIM:620306
HP:0012759	Neurodevelopmental abnormality	7317	UBA1	OMIM:301830
HP:0012759	Neurodevelopmental abnormality	1352	COX10	OMIM:619046
HP:0012759	Neurodevelopmental abnormality	871	SERPINH1	OMIM:613848
HP:0012759	Neurodevelopmental abnormality	84265	POLR3GL	OMIM:619234
HP:0012759	Neurodevelopmental abnormality	79991	STN1	OMIM:617341
HP:0012759	Neurodevelopmental abnormality	4700	NDUFA6	OMIM:618253
HP:0012759	Neurodevelopmental abnormality	51728	POLR3K	OMIM:619310
HP:0012759	Neurodevelopmental abnormality	6621	SNAPC4	OMIM:620515
HP:0012759	Neurodevelopmental abnormality	1355	COX15	OMIM:615119
HP:0012759	Neurodevelopmental abnormality	4076	CAPRIN1	OMIM:620636
HP:0012752	Focal T2 hypointense basal ganglia lesion	4724	NDUFS4	OMIM:252010
HP:0012752	Focal T2 hypointense basal ganglia lesion	56997	COQ8A	ORPHA:139485
HP:0012753	T2 hypointense basal ganglia	2639	GCDH	ORPHA:25
HP:0012753	T2 hypointense basal ganglia	55823	VPS11	OMIM:619637
HP:0012753	T2 hypointense basal ganglia	2720	GLB1	ORPHA:79255
HP:0033589	Flatulence	4175	MCM6	OMIM:223100
HP:0033589	Flatulence	6476	SI	ORPHA:35122
HP:0007441	Hyperpigmented/hypopigmented macules	23556	PIGN	ORPHA:280633
HP:0007441	Hyperpigmented/hypopigmented macules	91039	DPP9	OMIM:620331
HP:0007441	Hyperpigmented/hypopigmented macules	103	ADAR	OMIM:127400
HP:0007441	Hyperpigmented/hypopigmented macules	23328	SASH1	OMIM:127500
HP:0007441	Hyperpigmented/hypopigmented macules	3852	KRT5	OMIM:131960
HP:0001034	Hypermelanotic macule	3479	IGF1	ORPHA:73272
HP:0001034	Hypermelanotic macule	8036	SHOC2	OMIM:607721
HP:0001034	Hypermelanotic macule	8367	H4C5	OMIM:619950
HP:0001034	Hypermelanotic macule	4683	NBN	OMIM:251260
HP:0001034	Hypermelanotic macule	55240	STEAP3	OMIM:615234
HP:0001034	Hypermelanotic macule	55240	STEAP3	ORPHA:300298
HP:0001034	Hypermelanotic macule	55654	TMEM127	OMIM:171300
HP:0001034	Hypermelanotic macule	4149	MAX	OMIM:171300
HP:0001034	Hypermelanotic macule	5979	RET	OMIM:171300
HP:0001034	Hypermelanotic macule	7428	VHL	OMIM:171300
HP:0001034	Hypermelanotic macule	161742	SPRED1	OMIM:611431
HP:0001034	Hypermelanotic macule	5894	RAF1	OMIM:611554
HP:0001034	Hypermelanotic macule	5894	RAF1	OMIM:611553
HP:0001034	Hypermelanotic macule	3659	IRF1	OMIM:620668
HP:0001034	Hypermelanotic macule	324	APC	ORPHA:99818
HP:0001034	Hypermelanotic macule	64682	ANAPC1	OMIM:618625
HP:0001034	Hypermelanotic macule	4076	CAPRIN1	OMIM:620782
HP:0001034	Hypermelanotic macule	10060	ABCC9	OMIM:619719
HP:0001034	Hypermelanotic macule	6548	SLC9A1	OMIM:616291
HP:0001034	Hypermelanotic macule	197131	UBR1	OMIM:243800
HP:0001034	Hypermelanotic macule	5728	PTEN	ORPHA:210548
HP:0001034	Hypermelanotic macule	220296	HEPACAM	ORPHA:210548
HP:0001034	Hypermelanotic macule	2175	FANCA	OMIM:227650
HP:0001034	Hypermelanotic macule	55215	FANCI	OMIM:609053
HP:0001034	Hypermelanotic macule	4893	NRAS	OMIM:613224
HP:0001034	Hypermelanotic macule	472	ATM	OMIM:208900
HP:0001034	Hypermelanotic macule	2188	FANCF	OMIM:603467
HP:0001034	Hypermelanotic macule	284058	KANSL1	ORPHA:363958
HP:0001034	Hypermelanotic macule	284058	KANSL1	ORPHA:363965
HP:0001034	Hypermelanotic macule	54543	TOMM7	OMIM:620601
HP:0001034	Hypermelanotic macule	3481	IGF2	OMIM:180860
HP:0001034	Hypermelanotic macule	3481	IGF2	ORPHA:397590
HP:0001034	Hypermelanotic macule	2178	FANCE	OMIM:600901
HP:0001034	Hypermelanotic macule	7156	TOP3A	OMIM:618097
HP:0001034	Hypermelanotic macule	2475	MTOR	ORPHA:457485
HP:0001034	Hypermelanotic macule	2475	MTOR	OMIM:616638
HP:0001034	Hypermelanotic macule	6663	SOX10	OMIM:611584
HP:0001034	Hypermelanotic macule	51729	WBP11	OMIM:619227
HP:0001034	Hypermelanotic macule	5116	PCNT	OMIM:210720
HP:0001034	Hypermelanotic macule	6874	TAF4	OMIM:620450
HP:0001034	Hypermelanotic macule	4771	NF2	OMIM:101000
HP:0001034	Hypermelanotic macule	699	BUB1	OMIM:620183
HP:0001034	Hypermelanotic macule	1186	CLCN7	OMIM:618541
HP:0001034	Hypermelanotic macule	57680	CHD8	OMIM:615032
HP:0001034	Hypermelanotic macule	2033	EP300	OMIM:180849
HP:0001034	Hypermelanotic macule	1387	CREBBP	OMIM:180849
HP:0001034	Hypermelanotic macule	3458	IFNG	OMIM:613254
HP:0001034	Hypermelanotic macule	7249	TSC2	OMIM:613254
HP:0001034	Hypermelanotic macule	10283	CWC27	OMIM:250410
HP:0001034	Hypermelanotic macule	10283	CWC27	ORPHA:166035
HP:0001034	Hypermelanotic macule	8936	WASF1	OMIM:618707
HP:0001034	Hypermelanotic macule	55719	SLF2	OMIM:620184
HP:0001034	Hypermelanotic macule	5605	MAP2K2	OMIM:615280
HP:0001034	Hypermelanotic macule	285590	SH3PXD2B	OMIM:249420
HP:0001034	Hypermelanotic macule	5594	MAPK1	OMIM:619087
HP:0001034	Hypermelanotic macule	9702	CEP57	OMIM:614114
HP:0001034	Hypermelanotic macule	1028	CDKN1C	ORPHA:397590
HP:0001034	Hypermelanotic macule	5324	PLAG1	ORPHA:397590
HP:0001034	Hypermelanotic macule	8091	HMGA2	ORPHA:397590
HP:0001034	Hypermelanotic macule	641	BLM	OMIM:210900
HP:0001034	Hypermelanotic macule	641	BLM	ORPHA:125
HP:0001034	Hypermelanotic macule	5500	PPP1CB	OMIM:617506
HP:0001034	Hypermelanotic macule	7248	TSC1	OMIM:191100
HP:0001034	Hypermelanotic macule	79728	PALB2	OMIM:610832
HP:0001034	Hypermelanotic macule	675	BRCA2	OMIM:605724
HP:0001034	Hypermelanotic macule	2177	FANCD2	OMIM:227646
HP:0001034	Hypermelanotic macule	2176	FANCC	OMIM:227645
HP:0001034	Hypermelanotic macule	55120	FANCL	OMIM:614083
HP:0001034	Hypermelanotic macule	9968	MED12	OMIM:300895
HP:0001034	Hypermelanotic macule	4221	MEN1	OMIM:131100
HP:0001034	Hypermelanotic macule	9652	SKIC3	OMIM:222470
HP:0001034	Hypermelanotic macule	9652	SKIC3	ORPHA:84064
HP:0001034	Hypermelanotic macule	55023	PHIP	OMIM:617991
HP:0001034	Hypermelanotic macule	55023	PHIP	ORPHA:589905
HP:0001034	Hypermelanotic macule	1315	COPB1	OMIM:619255
HP:0001034	Hypermelanotic macule	84464	SLX4	OMIM:613951
HP:0001034	Hypermelanotic macule	157570	ESCO2	OMIM:268300
HP:0001034	Hypermelanotic macule	6595	SMARCA2	OMIM:601358
HP:0001034	Hypermelanotic macule	5781	PTPN11	OMIM:151100
HP:0001034	Hypermelanotic macule	5781	PTPN11	OMIM:163950
HP:0001034	Hypermelanotic macule	867	CBL	OMIM:613563
HP:0001034	Hypermelanotic macule	6499	SKIC2	ORPHA:84064
HP:0001034	Hypermelanotic macule	22907	DHX30	OMIM:617804
HP:0001034	Hypermelanotic macule	5426	POLE	OMIM:618336
HP:0001034	Hypermelanotic macule	9898	UBAP2L	OMIM:620494
HP:0001034	Hypermelanotic macule	673	BRAF	OMIM:163950
HP:0001034	Hypermelanotic macule	5604	MAP2K1	OMIM:163950
HP:0001034	Hypermelanotic macule	8085	KMT2D	OMIM:147920
HP:0001034	Hypermelanotic macule	7403	KDM6A	OMIM:147920
HP:0001034	Hypermelanotic macule	25778	DSTYK	ORPHA:101003
HP:0001034	Hypermelanotic macule	25778	DSTYK	OMIM:270750
HP:0001034	Hypermelanotic macule	5573	PRKAR1A	OMIM:160980
HP:0001034	Hypermelanotic macule	5573	PRKAR1A	ORPHA:1359
HP:0001034	Hypermelanotic macule	3845	KRAS	ORPHA:1340
HP:0001034	Hypermelanotic macule	50940	PDE11A	ORPHA:1359
HP:0001034	Hypermelanotic macule	23141	ANKLE2	OMIM:616681
HP:0001034	Hypermelanotic macule	112858	TP53RK	OMIM:617730
HP:0001034	Hypermelanotic macule	3815	KIT	OMIM:154800
HP:0001034	Hypermelanotic macule	3815	KIT	ORPHA:79455
HP:0001034	Hypermelanotic macule	23135	KDM6B	OMIM:618505
HP:0001034	Hypermelanotic macule	5290	PIK3CA	ORPHA:60040
HP:0001034	Hypermelanotic macule	60	ACTB	ORPHA:64755
HP:0001034	Hypermelanotic macule	2186	BPTF	OMIM:148000
HP:0001034	Hypermelanotic macule	3569	IL6	OMIM:148000
HP:0001034	Hypermelanotic macule	4254	KITLG	OMIM:145250
HP:0001034	Hypermelanotic macule	4254	KITLG	OMIM:619947
HP:0001034	Hypermelanotic macule	2261	FGFR3	ORPHA:53271
HP:0001034	Hypermelanotic macule	56983	POGLUT1	ORPHA:79145
HP:0001034	Hypermelanotic macule	3852	KRT5	ORPHA:79145
HP:0001034	Hypermelanotic macule	3852	KRT5	ORPHA:79397
HP:0001034	Hypermelanotic macule	3852	KRT5	ORPHA:79399
HP:0001034	Hypermelanotic macule	23509	POFUT1	ORPHA:79145
HP:0001034	Hypermelanotic macule	55851	PSENEN	ORPHA:79145
HP:0001034	Hypermelanotic macule	56916	SMARCAD1	OMIM:129200
HP:0001034	Hypermelanotic macule	7507	XPA	OMIM:278700
HP:0001034	Hypermelanotic macule	7507	XPA	ORPHA:910
HP:0001034	Hypermelanotic macule	1161	ERCC8	ORPHA:90321
HP:0001034	Hypermelanotic macule	1161	ERCC8	ORPHA:90322
HP:0001034	Hypermelanotic macule	2072	ERCC4	ORPHA:90321
HP:0001034	Hypermelanotic macule	2072	ERCC4	ORPHA:910
HP:0001034	Hypermelanotic macule	2074	ERCC6	ORPHA:90321
HP:0001034	Hypermelanotic macule	2074	ERCC6	ORPHA:90322
HP:0001034	Hypermelanotic macule	2074	ERCC6	OMIM:278800
HP:0001034	Hypermelanotic macule	2776	GNAQ	ORPHA:624
HP:0001034	Hypermelanotic macule	2067	ERCC1	ORPHA:90322
HP:0001034	Hypermelanotic macule	4000	LMNA	ORPHA:740
HP:0001034	Hypermelanotic macule	10269	ZMPSTE24	ORPHA:740
HP:0001034	Hypermelanotic macule	50485	SMARCAL1	ORPHA:1830
HP:0001034	Hypermelanotic macule	50485	SMARCAL1	OMIM:242900
HP:0001034	Hypermelanotic macule	10058	ABCB6	OMIM:615402
HP:0001034	Hypermelanotic macule	10058	ABCB6	ORPHA:241
HP:0001034	Hypermelanotic macule	488	ATP2A2	ORPHA:218
HP:0001034	Hypermelanotic macule	488	ATP2A2	OMIM:124200
HP:0001034	Hypermelanotic macule	7132	TNFRSF1A	ORPHA:32960
HP:0001034	Hypermelanotic macule	2778	GNAS	ORPHA:2762
HP:0001034	Hypermelanotic macule	1536	CYBB	ORPHA:379
HP:0001034	Hypermelanotic macule	4688	NCF2	ORPHA:379
HP:0001034	Hypermelanotic macule	1535	CYBA	ORPHA:379
HP:0001034	Hypermelanotic macule	4689	NCF4	ORPHA:379
HP:0001034	Hypermelanotic macule	653361	NCF1	ORPHA:379
HP:0001034	Hypermelanotic macule	79415	CYBC1	ORPHA:379
HP:0001034	Hypermelanotic macule	8869	ST3GAL5	OMIM:609056
HP:0001034	Hypermelanotic macule	54	ACP5	OMIM:607944
HP:0001034	Hypermelanotic macule	716	C1S	ORPHA:75392
HP:0001034	Hypermelanotic macule	715	C1R	ORPHA:75392
HP:0001034	Hypermelanotic macule	3643	INSR	OMIM:246200
HP:0001034	Hypermelanotic macule	1663	DDX11	OMIM:613398
HP:0001034	Hypermelanotic macule	6794	STK11	OMIM:175200
HP:0001034	Hypermelanotic macule	5339	PLEC	ORPHA:79401
HP:0001034	Hypermelanotic macule	4313	MMP2	OMIM:259600
HP:0001034	Hypermelanotic macule	23328	SASH1	OMIM:618373
HP:0001034	Hypermelanotic macule	80169	CTC1	ORPHA:1775
HP:0001034	Hypermelanotic macule	26277	TINF2	ORPHA:1775
HP:0001034	Hypermelanotic macule	55651	NHP2	ORPHA:1775
HP:0001034	Hypermelanotic macule	79650	USB1	ORPHA:1775
HP:0001034	Hypermelanotic macule	55135	WRAP53	ORPHA:1775
HP:0001034	Hypermelanotic macule	51750	RTEL1	ORPHA:1775
HP:0001034	Hypermelanotic macule	4869	NPM1	ORPHA:1775
HP:0001034	Hypermelanotic macule	7012	TERC	ORPHA:1775
HP:0001034	Hypermelanotic macule	55505	NOP10	ORPHA:1775
HP:0001034	Hypermelanotic macule	5073	PARN	ORPHA:1775
HP:0001034	Hypermelanotic macule	7015	TERT	ORPHA:1775
HP:0001034	Hypermelanotic macule	1736	DKC1	ORPHA:1775
HP:0001034	Hypermelanotic macule	7298	TYMS	ORPHA:1775
HP:0001034	Hypermelanotic macule	10457	GPNMB	OMIM:617920
HP:0001034	Hypermelanotic macule	8216	LZTR1	OMIM:605275
HP:0001034	Hypermelanotic macule	2697	GJA1	ORPHA:317
HP:0001034	Hypermelanotic macule	2707	GJB3	ORPHA:317
HP:0001034	Hypermelanotic macule	2531	KDSR	ORPHA:317
HP:0001034	Hypermelanotic macule	127534	GJB4	ORPHA:317
HP:0001034	Hypermelanotic macule	3861	KRT14	ORPHA:79397
HP:0001034	Hypermelanotic macule	3861	KRT14	ORPHA:79399
HP:0001034	Hypermelanotic macule	4763	NF1	ORPHA:97685
HP:0001034	Hypermelanotic macule	2068	ERCC2	ORPHA:910
HP:0001034	Hypermelanotic macule	2071	ERCC3	ORPHA:910
HP:0001034	Hypermelanotic macule	7508	XPC	ORPHA:910
HP:0001034	Hypermelanotic macule	1643	DDB2	ORPHA:910
HP:0001034	Hypermelanotic macule	2073	ERCC5	ORPHA:910
HP:0001034	Hypermelanotic macule	1027	CDKN1B	ORPHA:652
HP:0001034	Hypermelanotic macule	1026	CDKN1A	ORPHA:652
HP:0001034	Hypermelanotic macule	1030	CDKN2B	ORPHA:652
HP:0001034	Hypermelanotic macule	1031	CDKN2C	ORPHA:652
HP:0001034	Hypermelanotic macule	1308	COL17A1	OMIM:619787
HP:0001034	Hypermelanotic macule	2783	GNB2	OMIM:619503
HP:0001034	Hypermelanotic macule	6418	SET	OMIM:618106
HP:0001034	Hypermelanotic macule	5932	RBBP8	OMIM:606744
HP:0001034	Hypermelanotic macule	9319	TRIP13	OMIM:617598
HP:0001034	Hypermelanotic macule	64864	RFX7	OMIM:620330
HP:0001034	Hypermelanotic macule	4436	MSH2	OMIM:619096
HP:0001034	Hypermelanotic macule	2956	MSH6	OMIM:619097
HP:0001034	Hypermelanotic macule	5980	REV3L	ORPHA:570
HP:0001034	Hypermelanotic macule	23129	PLXND1	ORPHA:570
HP:0001034	Hypermelanotic macule	11253	MAN1B1	ORPHA:397941
HP:0001034	Hypermelanotic macule	2189	FANCG	OMIM:614082
HP:0001034	Hypermelanotic macule	2189	FANCG	ORPHA:84
HP:0001034	Hypermelanotic macule	8242	KDM5C	ORPHA:85279
HP:0001034	Hypermelanotic macule	672	BRCA1	ORPHA:84
HP:0001034	Hypermelanotic macule	10459	MAD2L2	ORPHA:84
HP:0001034	Hypermelanotic macule	7516	XRCC2	ORPHA:84
HP:0001034	Hypermelanotic macule	29089	UBE2T	ORPHA:84
HP:0001034	Hypermelanotic macule	2187	FANCB	ORPHA:84
HP:0001034	Hypermelanotic macule	5888	RAD51	ORPHA:84
HP:0001034	Hypermelanotic macule	5889	RAD51C	ORPHA:84
HP:0001034	Hypermelanotic macule	55159	RFWD3	ORPHA:84
HP:0001034	Hypermelanotic macule	83990	BRIP1	ORPHA:84
HP:0001034	Hypermelanotic macule	83990	BRIP1	OMIM:609054
HP:0001034	Hypermelanotic macule	57697	FANCM	ORPHA:84
HP:0001034	Hypermelanotic macule	11322	TMC6	ORPHA:302
HP:0001034	Hypermelanotic macule	3574	IL7	ORPHA:302
HP:0001034	Hypermelanotic macule	147138	TMC8	ORPHA:302
HP:0001034	Hypermelanotic macule	10519	CIB1	ORPHA:302
HP:0001034	Hypermelanotic macule	4292	MLH1	OMIM:276300
HP:0001034	Hypermelanotic macule	207	AKT1	ORPHA:744
HP:0001034	Hypermelanotic macule	207	AKT1	ORPHA:201
HP:0001034	Hypermelanotic macule	10483	SEC23B	ORPHA:201
HP:0001034	Hypermelanotic macule	6390	SDHB	ORPHA:201
HP:0001034	Hypermelanotic macule	6392	SDHD	ORPHA:201
HP:0001034	Hypermelanotic macule	6391	SDHC	ORPHA:201
HP:0001034	Hypermelanotic macule	205717	USF3	ORPHA:201
HP:0001034	Hypermelanotic macule	100144748	KLLN	ORPHA:201
HP:0001034	Hypermelanotic macule	117581	TWIST2	ORPHA:1807
HP:0001034	Hypermelanotic macule	8626	TP63	ORPHA:69085
HP:0001034	Hypermelanotic macule	9184	BUB3	ORPHA:1052
HP:0001034	Hypermelanotic macule	701	BUB1B	ORPHA:1052
HP:0001034	Hypermelanotic macule	5395	PMS2	OMIM:619101
HP:0001034	Hypermelanotic macule	473	RERE	OMIM:616975
HP:0001034	Hypermelanotic macule	2767	GNA11	ORPHA:1556
HP:0001034	Hypermelanotic macule	151188	ARL6IP6	ORPHA:1556
HP:0001034	Hypermelanotic macule	374969	SVBP	OMIM:618569
HP:0033594	Elevated urinary 7-biopterin level	5092	PCBD1	OMIM:264070
HP:0033595	Elevated circulating globotriaosylceramide concentration	2717	GLA	OMIM:301500
HP:0033596	Elevated urinary 3-methylcrotonylglycine level	3141	HLCS	OMIM:253270
HP:0033596	Elevated urinary 3-methylcrotonylglycine level	56922	MCCC1	OMIM:210200
HP:0033596	Elevated urinary 3-methylcrotonylglycine level	3155	HMGCL	OMIM:246450
HP:0033597	Decreased mucosal sucrase-isomaltase activity	6476	SI	OMIM:222900
HP:0012760	Reduced social responsiveness	388015	RTL1	ORPHA:254531
HP:0012760	Reduced social responsiveness	8788	DLK1	ORPHA:254531
HP:0012760	Reduced social responsiveness	55384	MEG3	ORPHA:254531
HP:0012760	Reduced social responsiveness	83480	PUS3	OMIM:617051
HP:0012760	Reduced social responsiveness	10771	ZMYND11	OMIM:616083
HP:0012760	Reduced social responsiveness	6535	SLC6A8	OMIM:300352
HP:0012760	Reduced social responsiveness	23394	ADNP	ORPHA:404448
HP:0012760	Reduced social responsiveness	23394	ADNP	OMIM:615873
HP:0012760	Reduced social responsiveness	340533	NEXMIF	OMIM:300912
HP:0012760	Reduced social responsiveness	340533	NEXMIF	ORPHA:1942
HP:0012760	Reduced social responsiveness	84894	LINGO1	OMIM:618103
HP:0012760	Reduced social responsiveness	23126	POGZ	OMIM:616364
HP:0012760	Reduced social responsiveness	57680	CHD8	OMIM:615032
HP:0012760	Reduced social responsiveness	6711	SPTBN1	OMIM:619475
HP:0012760	Reduced social responsiveness	1213	CLTC	OMIM:617854
HP:0012760	Reduced social responsiveness	54902	TTC19	OMIM:615157
HP:0012760	Reduced social responsiveness	2290	FOXG1	OMIM:613454
HP:0012760	Reduced social responsiveness	4983	OPHN1	ORPHA:137831
HP:0012760	Reduced social responsiveness	9968	MED12	OMIM:309520
HP:0012760	Reduced social responsiveness	85358	SHANK3	OMIM:606232
HP:0012760	Reduced social responsiveness	6792	CDKL5	ORPHA:3095
HP:0012760	Reduced social responsiveness	22854	NTNG1	ORPHA:3095
HP:0012760	Reduced social responsiveness	9568	GABBR2	ORPHA:3095
HP:0012760	Reduced social responsiveness	4204	MECP2	ORPHA:3095
HP:0012760	Reduced social responsiveness	8243	SMC1A	ORPHA:3095
HP:0012760	Reduced social responsiveness	1387	CREBBP	ORPHA:353281
HP:0012760	Reduced social responsiveness	1387	CREBBP	ORPHA:353277
HP:0012760	Reduced social responsiveness	440138	ALG11	ORPHA:280071
HP:0012760	Reduced social responsiveness	22871	NLGN1	OMIM:618830
HP:0012760	Reduced social responsiveness	25970	SH2B1	ORPHA:329249
HP:0012760	Reduced social responsiveness	25970	SH2B1	ORPHA:261197
HP:0012760	Reduced social responsiveness	2902	GRIN1	OMIM:617820
HP:0012760	Reduced social responsiveness	200424	TET3	OMIM:618798
HP:0012760	Reduced social responsiveness	2033	EP300	ORPHA:353284
HP:0012760	Reduced social responsiveness	5422	POLA1	ORPHA:163976
HP:0012760	Reduced social responsiveness	55777	MBD5	OMIM:156200
HP:0012760	Reduced social responsiveness	8925	HERC1	ORPHA:457359
HP:0012760	Reduced social responsiveness	2898	GRIK2	OMIM:611092
HP:0012760	Reduced social responsiveness	4123	MAN2C1	OMIM:619775
HP:0012760	Reduced social responsiveness	2332	FMR1	ORPHA:449291
HP:0012760	Reduced social responsiveness	8831	SYNGAP1	ORPHA:544254
HP:0012760	Reduced social responsiveness	8831	SYNGAP1	ORPHA:1942
HP:0012760	Reduced social responsiveness	5119	CHMP1A	OMIM:614961
HP:0012760	Reduced social responsiveness	26047	CNTNAP2	OMIM:610042
HP:0012760	Reduced social responsiveness	10352	WARS2	OMIM:619738
HP:0012760	Reduced social responsiveness	10381	TUBB3	ORPHA:300570
HP:0012760	Reduced social responsiveness	404672	GTF2H5	ORPHA:33364
HP:0012760	Reduced social responsiveness	833	CARS1	ORPHA:33364
HP:0012760	Reduced social responsiveness	2068	ERCC2	ORPHA:33364
HP:0012760	Reduced social responsiveness	7737	RNF113A	ORPHA:33364
HP:0012760	Reduced social responsiveness	136647	MPLKIP	ORPHA:33364
HP:0012760	Reduced social responsiveness	6897	TARS1	ORPHA:33364
HP:0012760	Reduced social responsiveness	16	AARS1	ORPHA:33364
HP:0012760	Reduced social responsiveness	2071	ERCC3	ORPHA:33364
HP:0012760	Reduced social responsiveness	2961	GTF2E2	ORPHA:33364
HP:0012760	Reduced social responsiveness	10716	TBR1	OMIM:606053
HP:0012760	Reduced social responsiveness	6513	SLC2A1	ORPHA:1942
HP:0012760	Reduced social responsiveness	1173	AP2M1	ORPHA:1942
HP:0012760	Reduced social responsiveness	6323	SCN1A	ORPHA:1942
HP:0012760	Reduced social responsiveness	1106	CHD2	ORPHA:1942
HP:0012760	Reduced social responsiveness	6529	SLC6A1	ORPHA:1942
HP:0012760	Reduced social responsiveness	23096	IQSEC2	ORPHA:397933
HP:0012760	Reduced social responsiveness	8398	PLA2G6	OMIM:256600
HP:0012760	Reduced social responsiveness	54832	VPS13C	ORPHA:2828
HP:0012760	Reduced social responsiveness	11315	PARK7	ORPHA:2828
HP:0012760	Reduced social responsiveness	7345	UCHL1	ORPHA:2828
HP:0012760	Reduced social responsiveness	27429	HTRA2	ORPHA:2828
HP:0012760	Reduced social responsiveness	120892	LRRK2	ORPHA:2828
HP:0012760	Reduced social responsiveness	9829	DNAJC6	ORPHA:2828
HP:0012760	Reduced social responsiveness	6622	SNCA	ORPHA:2828
HP:0012760	Reduced social responsiveness	5420	PODXL	ORPHA:2828
HP:0012760	Reduced social responsiveness	65018	PINK1	ORPHA:2828
HP:0012760	Reduced social responsiveness	8867	SYNJ1	ORPHA:2828
HP:0012760	Reduced social responsiveness	5071	PRKN	ORPHA:2828
HP:0012760	Reduced social responsiveness	6638	SNRPN	ORPHA:177907
HP:0012760	Reduced social responsiveness	4763	NF1	ORPHA:97685
HP:0025040	Thalamic edema	54820	NDE1	ORPHA:2177
HP:0025041	Thalamic calcification	58494	JAM2	OMIM:618824
HP:0025041	Thalamic calcification	129607	CMPK2	OMIM:621018
HP:0025041	Thalamic calcification	57462	MYORG	OMIM:618317
HP:0025041	Thalamic calcification	5155	PDGFB	OMIM:615483
HP:0025042	Abnormality of mesenteric lymph nodes	3459	IFNGR1	OMIM:209950
HP:0025043	Enlarged mesenteric lymph node	3459	IFNGR1	OMIM:209950
HP:0025044	Lung abscess	4688	NCF2	OMIM:233710
HP:0025044	Lung abscess	567	B2M	OMIM:241600
HP:0025045	Abnormal brain lactate level by MRS	3735	KARS1	OMIM:619196
HP:0025045	Abnormal brain lactate level by MRS	4558	MT-TF	ORPHA:550
HP:0025045	Abnormal brain lactate level by MRS	4572	MT-TQ	ORPHA:550
HP:0025045	Abnormal brain lactate level by MRS	4512	MT-CO1	ORPHA:550
HP:0025045	Abnormal brain lactate level by MRS	4513	MT-CO2	ORPHA:550
HP:0025045	Abnormal brain lactate level by MRS	4514	MT-CO3	ORPHA:550
HP:0025045	Abnormal brain lactate level by MRS	4578	MT-TW	ORPHA:550
HP:0025045	Abnormal brain lactate level by MRS	4540	MT-ND5	ORPHA:550
HP:0025045	Abnormal brain lactate level by MRS	4541	MT-ND6	ORPHA:550
HP:0025045	Abnormal brain lactate level by MRS	4535	MT-ND1	ORPHA:550
HP:0025045	Abnormal brain lactate level by MRS	4538	MT-ND4	ORPHA:550
HP:0025045	Abnormal brain lactate level by MRS	4567	MT-TL1	ORPHA:550
HP:0025045	Abnormal brain lactate level by MRS	4574	MT-TS1	ORPHA:550
HP:0025045	Abnormal brain lactate level by MRS	4575	MT-TS2	ORPHA:550
HP:0025045	Abnormal brain lactate level by MRS	4564	MT-TH	ORPHA:550
HP:0025045	Abnormal brain lactate level by MRS	10059	DNM1L	ORPHA:330050
HP:0025045	Abnormal brain lactate level by MRS	51241	COX16	OMIM:619355
HP:0025045	Abnormal brain lactate level by MRS	91574	MTRFR	ORPHA:254930
HP:0025045	Abnormal brain lactate level by MRS	91574	MTRFR	OMIM:613559
HP:0025045	Abnormal brain lactate level by MRS	26235	FBXL4	OMIM:615471
HP:0025045	Abnormal brain lactate level by MRS	51102	MECR	ORPHA:508093
HP:0025045	Abnormal brain lactate level by MRS	57128	LYRM4	OMIM:615595
HP:0025045	Abnormal brain lactate level by MRS	27247	NFU1	OMIM:620938
HP:0025045	Abnormal brain lactate level by MRS	1593	CYP27A1	ORPHA:909
HP:0025045	Abnormal brain lactate level by MRS	64116	SLC39A8	OMIM:616721
HP:0025045	Abnormal brain lactate level by MRS	4358	MPV17	OMIM:256810
HP:0025045	Abnormal brain lactate level by MRS	54148	MRPL39	OMIM:620646
HP:0025045	Abnormal brain lactate level by MRS	2653	GCSH	OMIM:620423
HP:0025045	Abnormal brain lactate level by MRS	90624	LYRM7	OMIM:615838
HP:0025045	Abnormal brain lactate level by MRS	10667	FARS2	OMIM:614946
HP:0025045	Abnormal brain lactate level by MRS	57176	VARS2	OMIM:615917
HP:0025045	Abnormal brain lactate level by MRS	8802	SUCLG1	OMIM:245400
HP:0025045	Abnormal brain lactate level by MRS	6390	SDHB	OMIM:619224
HP:0025045	Abnormal brain lactate level by MRS	84842	HPDL	OMIM:619026
HP:0025045	Abnormal brain lactate level by MRS	5442	POLRMT	OMIM:619743
HP:0025045	Abnormal brain lactate level by MRS	65993	MRPS34	OMIM:617664
HP:0025045	Abnormal brain lactate level by MRS	1892	ECHS1	OMIM:616277
HP:0025045	Abnormal brain lactate level by MRS	51117	COQ4	OMIM:616276
HP:0025045	Abnormal brain lactate level by MRS	58472	SQOR	OMIM:619221
HP:0025045	Abnormal brain lactate level by MRS	84340	GFM2	OMIM:618397
HP:0025045	Abnormal brain lactate level by MRS	387787	LIPT2	OMIM:617668
HP:0025045	Abnormal brain lactate level by MRS	27429	HTRA2	OMIM:617248
HP:0025045	Abnormal brain lactate level by MRS	137682	NDUFAF6	OMIM:618239
HP:0025045	Abnormal brain lactate level by MRS	4713	NDUFB7	OMIM:620135
HP:0025045	Abnormal brain lactate level by MRS	9900	SV2A	OMIM:620772
HP:0025045	Abnormal brain lactate level by MRS	79736	TEFM	OMIM:620451
HP:0025045	Abnormal brain lactate level by MRS	1353	COX11	OMIM:620275
HP:0025045	Abnormal brain lactate level by MRS	3028	HSD17B10	ORPHA:391428
HP:0025045	Abnormal brain lactate level by MRS	84342	COG8	OMIM:611182
HP:0025047	Abnormal brain choline level by MRS	1593	CYP27A1	ORPHA:909
HP:0025047	Abnormal brain choline level by MRS	137682	NDUFAF6	OMIM:618239
HP:0025047	Abnormal brain choline level by MRS	2917	GRM7	OMIM:618922
HP:0025047	Abnormal brain choline level by MRS	1267	CNP	OMIM:619071
HP:0025047	Abnormal brain choline level by MRS	55768	NGLY1	OMIM:615273
HP:0025047	Abnormal brain choline level by MRS	2581	GALC	ORPHA:206436
HP:0025047	Abnormal brain choline level by MRS	5660	PSAP	ORPHA:206436
HP:0025047	Abnormal brain choline level by MRS	128240	NAXE	OMIM:617186
HP:0025047	Abnormal brain choline level by MRS	200205	IBA57	OMIM:615330
HP:0025047	Abnormal brain choline level by MRS	27247	NFU1	OMIM:620938
HP:0025049	Abnormal brain creatine level by MRS	6535	SLC6A8	OMIM:300352
HP:0025049	Abnormal brain creatine level by MRS	2593	GAMT	OMIM:612736
HP:0025049	Abnormal brain creatine level by MRS	2628	GATM	OMIM:612718
HP:0012767	Abnormal placental size	3481	IGF2	ORPHA:397590
HP:0012767	Abnormal placental size	1028	CDKN1C	ORPHA:397590
HP:0012767	Abnormal placental size	5324	PLAG1	ORPHA:397590
HP:0012767	Abnormal placental size	8091	HMGA2	ORPHA:397590
HP:0012767	Abnormal placental size	3479	IGF1	ORPHA:73272
HP:0012767	Abnormal placental size	4000	LMNA	ORPHA:1662
HP:0012767	Abnormal placental size	10269	ZMPSTE24	ORPHA:1662
HP:0012767	Abnormal placental size	4593	MUSK	OMIM:208150
HP:0012767	Abnormal placental size	26227	PHGDH	OMIM:256520
HP:0012767	Abnormal placental size	3930	LBR	OMIM:215140
HP:0012767	Abnormal placental size	388015	RTL1	ORPHA:254534
HP:0012767	Abnormal placental size	388015	RTL1	ORPHA:96334
HP:0012767	Abnormal placental size	388015	RTL1	ORPHA:254528
HP:0012767	Abnormal placental size	8788	DLK1	ORPHA:254534
HP:0012767	Abnormal placental size	8788	DLK1	ORPHA:96334
HP:0012767	Abnormal placental size	8788	DLK1	ORPHA:254528
HP:0012767	Abnormal placental size	55384	MEG3	ORPHA:254534
HP:0012767	Abnormal placental size	55384	MEG3	ORPHA:96334
HP:0012767	Abnormal placental size	55384	MEG3	ORPHA:254528
HP:0012767	Abnormal placental size	54903	MKS1	OMIM:249000
HP:0012767	Abnormal placental size	9652	SKIC3	OMIM:222470
HP:0012767	Abnormal placental size	3339	HSPG2	ORPHA:1865
HP:0012768	Neonatal asphyxia	10999	SLC27A4	OMIM:608649
HP:0012768	Neonatal asphyxia	91949	COG7	OMIM:608779
HP:0012768	Neonatal asphyxia	9968	MED12	ORPHA:2728
HP:0012768	Neonatal asphyxia	23729	SHPK	ORPHA:440713
HP:0012768	Neonatal asphyxia	3284	HSD3B2	ORPHA:90791
HP:0012768	Neonatal asphyxia	165918	RNF168	ORPHA:420741
HP:0012768	Neonatal asphyxia	274	BIN1	ORPHA:169189
HP:0012768	Neonatal asphyxia	64419	MTMR14	ORPHA:169189
HP:0012768	Neonatal asphyxia	4618	MYF6	ORPHA:169189
HP:0012768	Neonatal asphyxia	1785	DNM2	ORPHA:169189
HP:0012768	Neonatal asphyxia	6261	RYR1	ORPHA:169189
HP:0012768	Neonatal asphyxia	501	ALDH7A1	ORPHA:3006
HP:0012768	Neonatal asphyxia	11212	PLPBP	ORPHA:3006
HP:0012768	Neonatal asphyxia	2584	GALK1	ORPHA:79237
HP:0012769	Abnormal arm span	4094	MAF	ORPHA:1272
HP:0012769	Abnormal arm span	1297	COL9A1	ORPHA:166002
HP:0012769	Abnormal arm span	1298	COL9A2	ORPHA:166002
HP:0012769	Abnormal arm span	1299	COL9A3	ORPHA:166002
HP:0012769	Abnormal arm span	6399	TRAPPC2	ORPHA:93284
HP:0012769	Abnormal arm span	2200	FBN1	ORPHA:284979
HP:0012769	Abnormal arm span	6874	TAF4	OMIM:620450
HP:0012769	Abnormal arm span	7043	TGFB3	OMIM:615582
HP:0012769	Abnormal arm span	64324	NSD1	ORPHA:821
HP:0012769	Abnormal arm span	10297	APC2	ORPHA:821
HP:0012769	Abnormal arm span	1742	DLG4	OMIM:618793
HP:0012763	Paroxysmal dyspnea	4629	MYH11	ORPHA:229
HP:0012763	Paroxysmal dyspnea	4629	MYH11	ORPHA:91387
HP:0012763	Paroxysmal dyspnea	7046	TGFBR1	ORPHA:91387
HP:0012763	Paroxysmal dyspnea	7048	TGFBR2	ORPHA:91387
HP:0012763	Paroxysmal dyspnea	4015	LOX	ORPHA:91387
HP:0012763	Paroxysmal dyspnea	4087	SMAD2	ORPHA:91387
HP:0012763	Paroxysmal dyspnea	7043	TGFB3	ORPHA:91387
HP:0012763	Paroxysmal dyspnea	4088	SMAD3	ORPHA:91387
HP:0012763	Paroxysmal dyspnea	7042	TGFB2	ORPHA:91387
HP:0012763	Paroxysmal dyspnea	4089	SMAD4	ORPHA:91387
HP:0012763	Paroxysmal dyspnea	2200	FBN1	ORPHA:91387
HP:0012763	Paroxysmal dyspnea	59	ACTA2	ORPHA:91387
HP:0012763	Paroxysmal dyspnea	5592	PRKG1	ORPHA:91387
HP:0012763	Paroxysmal dyspnea	2301	FOXE3	ORPHA:91387
HP:0012763	Paroxysmal dyspnea	4144	MAT2A	ORPHA:91387
HP:0012763	Paroxysmal dyspnea	23493	HEY2	ORPHA:91387
HP:0012763	Paroxysmal dyspnea	8076	MFAP5	ORPHA:91387
HP:0012763	Paroxysmal dyspnea	4638	MYLK	ORPHA:91387
HP:0012763	Paroxysmal dyspnea	79875	THSD4	ORPHA:91387
HP:0012763	Paroxysmal dyspnea	2006	ELN	ORPHA:91387
HP:0012763	Paroxysmal dyspnea	84705	GTPBP3	ORPHA:444013
HP:0012764	Orthopnea	7092	TLL1	ORPHA:99103
HP:0012764	Orthopnea	57057	TBX20	ORPHA:99103
HP:0012764	Orthopnea	4624	MYH6	ORPHA:99103
HP:0012764	Orthopnea	4624	MYH6	ORPHA:154
HP:0012764	Orthopnea	1482	NKX2-5	ORPHA:99103
HP:0012764	Orthopnea	70	ACTC1	ORPHA:99103
HP:0012764	Orthopnea	70	ACTC1	ORPHA:154
HP:0012764	Orthopnea	10370	CITED2	ORPHA:99103
HP:0012764	Orthopnea	2626	GATA4	ORPHA:99103
HP:0012764	Orthopnea	2627	GATA6	ORPHA:99103
HP:0012764	Orthopnea	6389	SDHA	ORPHA:154
HP:0012764	Orthopnea	10486	CAP2	ORPHA:154
HP:0012764	Orthopnea	7716	VEZF1	ORPHA:154
HP:0012764	Orthopnea	10060	ABCC9	ORPHA:154
HP:0012764	Orthopnea	7168	TPM1	ORPHA:154
HP:0012764	Orthopnea	27063	ANKRD1	ORPHA:154
HP:0012764	Orthopnea	1410	CRYAB	ORPHA:154
HP:0012764	Orthopnea	1410	CRYAB	OMIM:608810
HP:0012764	Orthopnea	439	GET3	ORPHA:154
HP:0012764	Orthopnea	7273	TTN	ORPHA:154
HP:0012764	Orthopnea	7273	TTN	ORPHA:178464
HP:0012764	Orthopnea	5350	PLN	ORPHA:154
HP:0012764	Orthopnea	5664	PSEN2	ORPHA:154
HP:0012764	Orthopnea	9529	BAG5	ORPHA:154
HP:0012764	Orthopnea	4607	MYBPC3	ORPHA:154
HP:0012764	Orthopnea	11155	LDB3	ORPHA:154
HP:0012764	Orthopnea	2274	FHL2	ORPHA:154
HP:0012764	Orthopnea	1756	DMD	ORPHA:154
HP:0012764	Orthopnea	84665	MYPN	ORPHA:154
HP:0012764	Orthopnea	84665	MYPN	ORPHA:75249
HP:0012764	Orthopnea	1674	DES	ORPHA:154
HP:0012764	Orthopnea	442721	LMOD2	ORPHA:154
HP:0012764	Orthopnea	8557	TCAP	ORPHA:154
HP:0012764	Orthopnea	57158	JPH2	ORPHA:154
HP:0012764	Orthopnea	9015	TAF1A	ORPHA:154
HP:0012764	Orthopnea	5663	PSEN1	ORPHA:154
HP:0012764	Orthopnea	7112	TMPO	ORPHA:154
HP:0012764	Orthopnea	9464	HAND2	ORPHA:154
HP:0012764	Orthopnea	4625	MYH7	ORPHA:154
HP:0012764	Orthopnea	88	ACTN2	ORPHA:154
HP:0012764	Orthopnea	7414	VCL	ORPHA:154
HP:0012764	Orthopnea	1832	DSP	ORPHA:154
HP:0012764	Orthopnea	6123	RPL3L	ORPHA:154
HP:0012764	Orthopnea	8048	CSRP3	ORPHA:154
HP:0012764	Orthopnea	4000	LMNA	ORPHA:154
HP:0012764	Orthopnea	7139	TNNT2	ORPHA:154
HP:0012764	Orthopnea	7139	TNNT2	ORPHA:75249
HP:0012764	Orthopnea	1829	DSG2	ORPHA:154
HP:0012764	Orthopnea	3910	LAMA4	ORPHA:154
HP:0012764	Orthopnea	63976	PRDM16	ORPHA:154
HP:0012764	Orthopnea	10587	TXNRD2	ORPHA:154
HP:0012764	Orthopnea	9531	BAG3	ORPHA:154
HP:0012764	Orthopnea	91624	NEXN	ORPHA:154
HP:0012764	Orthopnea	79717	PPCS	ORPHA:154
HP:0012764	Orthopnea	282996	RBM20	ORPHA:154
HP:0012764	Orthopnea	7137	TNNI3	ORPHA:154
HP:0012764	Orthopnea	7137	TNNI3	ORPHA:75249
HP:0012764	Orthopnea	6901	TAFAZZIN	ORPHA:154
HP:0012764	Orthopnea	22845	DOLK	ORPHA:154
HP:0012764	Orthopnea	5894	RAF1	ORPHA:154
HP:0012764	Orthopnea	57798	GATAD1	ORPHA:154
HP:0012764	Orthopnea	7134	TNNC1	ORPHA:154
HP:0012764	Orthopnea	6444	SGCD	ORPHA:154
HP:0012764	Orthopnea	6331	SCN5A	ORPHA:154
HP:0012764	Orthopnea	2218	FKTN	ORPHA:154
HP:0012764	Orthopnea	2318	FLNC	ORPHA:75249
HP:0012764	Orthopnea	10112	KIF20A	ORPHA:75249
HP:0012764	Orthopnea	25978	CHMP2B	ORPHA:803
HP:0012764	Orthopnea	3178	HNRNPA1	ORPHA:803
HP:0012764	Orthopnea	8148	TAF15	ORPHA:803
HP:0012764	Orthopnea	5445	PON2	ORPHA:803
HP:0012764	Orthopnea	9217	VAPB	ORPHA:803
HP:0012764	Orthopnea	8878	SQSTM1	ORPHA:803
HP:0012764	Orthopnea	5630	PRPH	ORPHA:803
HP:0012764	Orthopnea	29110	TBK1	ORPHA:803
HP:0012764	Orthopnea	55830	GLT8D1	ORPHA:803
HP:0012764	Orthopnea	755	CFAP410	ORPHA:803
HP:0012764	Orthopnea	10891	PPARGC1A	ORPHA:803
HP:0012764	Orthopnea	6647	SOD1	ORPHA:803
HP:0012764	Orthopnea	10133	OPTN	ORPHA:803
HP:0012764	Orthopnea	1639	DCTN1	ORPHA:803
HP:0012764	Orthopnea	9896	FIG4	ORPHA:803
HP:0012764	Orthopnea	5444	PON1	ORPHA:803
HP:0012764	Orthopnea	5446	PON3	ORPHA:803
HP:0012764	Orthopnea	4744	NEFH	ORPHA:803
HP:0012764	Orthopnea	5216	PFN1	ORPHA:803
HP:0012764	Orthopnea	9782	MATR3	ORPHA:803
HP:0012764	Orthopnea	54209	TREM2	ORPHA:803
HP:0012764	Orthopnea	7415	VCP	ORPHA:803
HP:0012764	Orthopnea	283	ANG	ORPHA:803
HP:0012764	Orthopnea	23435	TARDBP	ORPHA:803
HP:0012764	Orthopnea	29978	UBQLN2	ORPHA:803
HP:0012764	Orthopnea	2733	GLE1	ORPHA:803
HP:0012764	Orthopnea	2521	FUS	ORPHA:803
HP:0012764	Orthopnea	4750	NEK1	ORPHA:803
HP:0012764	Orthopnea	6311	ATXN2	ORPHA:803
HP:0012764	Orthopnea	1610	DAO	ORPHA:803
HP:0012764	Orthopnea	2066	ERBB4	ORPHA:803
HP:0012764	Orthopnea	311	ANXA11	ORPHA:803
HP:0012764	Orthopnea	23025	UNC13A	ORPHA:803
HP:0012764	Orthopnea	899	CCNF	ORPHA:803
HP:0012764	Orthopnea	400916	CHCHD10	ORPHA:803
HP:0012764	Orthopnea	6329	SCN4A	ORPHA:98913
HP:0012764	Orthopnea	1134	CHRNA1	ORPHA:98913
HP:0012764	Orthopnea	4038	LRP4	ORPHA:98913
HP:0012764	Orthopnea	1305	COL13A1	ORPHA:98913
HP:0012764	Orthopnea	1140	CHRNB1	ORPHA:98913
HP:0012764	Orthopnea	1144	CHRND	ORPHA:98913
HP:0012764	Orthopnea	1145	CHRNE	ORPHA:98913
HP:0012764	Orthopnea	4593	MUSK	ORPHA:98913
HP:0012764	Orthopnea	5913	RAPSN	ORPHA:98913
HP:0012764	Orthopnea	375790	AGRN	ORPHA:98913
HP:0012764	Orthopnea	221264	AK9	ORPHA:98913
HP:0012764	Orthopnea	285489	DOK7	ORPHA:98913
HP:0012764	Orthopnea	51778	MYOZ2	OMIM:613838
HP:0012765	Widened cerebellar subarachnoid space	283989	TSEN54	ORPHA:2524
HP:0012765	Widened cerebellar subarachnoid space	116461	TSEN15	ORPHA:2524
HP:0012765	Widened cerebellar subarachnoid space	79042	TSEN34	ORPHA:2524
HP:0012765	Widened cerebellar subarachnoid space	80746	TSEN2	ORPHA:2524
HP:0012765	Widened cerebellar subarachnoid space	51091	SEPSECS	ORPHA:2524
HP:0012765	Widened cerebellar subarachnoid space	64802	NMNAT1	OMIM:619260
HP:0012766	Widened cerebral subarachnoid space	1107	CHD3	OMIM:618205
HP:0012766	Widened cerebral subarachnoid space	4558	MT-TF	ORPHA:550
HP:0012766	Widened cerebral subarachnoid space	4572	MT-TQ	ORPHA:550
HP:0012766	Widened cerebral subarachnoid space	4512	MT-CO1	ORPHA:550
HP:0012766	Widened cerebral subarachnoid space	4513	MT-CO2	ORPHA:550
HP:0012766	Widened cerebral subarachnoid space	4514	MT-CO3	ORPHA:550
HP:0012766	Widened cerebral subarachnoid space	4578	MT-TW	ORPHA:550
HP:0012766	Widened cerebral subarachnoid space	4540	MT-ND5	ORPHA:550
HP:0012766	Widened cerebral subarachnoid space	4541	MT-ND6	ORPHA:550
HP:0012766	Widened cerebral subarachnoid space	4535	MT-ND1	ORPHA:550
HP:0012766	Widened cerebral subarachnoid space	4538	MT-ND4	ORPHA:550
HP:0012766	Widened cerebral subarachnoid space	4567	MT-TL1	ORPHA:550
HP:0012766	Widened cerebral subarachnoid space	4574	MT-TS1	ORPHA:550
HP:0012766	Widened cerebral subarachnoid space	4575	MT-TS2	ORPHA:550
HP:0012766	Widened cerebral subarachnoid space	4564	MT-TH	ORPHA:550
HP:0012766	Widened cerebral subarachnoid space	4677	NARS1	OMIM:619092
HP:0012766	Widened cerebral subarachnoid space	79989	IFT56	OMIM:619534
HP:0012766	Widened cerebral subarachnoid space	79087	ALG12	ORPHA:79324
HP:0012766	Widened cerebral subarachnoid space	3417	IDH1	ORPHA:99646
HP:0012762	Cerebral white matter atrophy	10059	DNM1L	ORPHA:98673
HP:0012762	Cerebral white matter atrophy	4976	OPA1	ORPHA:98673
HP:0012762	Cerebral white matter atrophy	4702	NDUFA8	OMIM:619272
HP:0012762	Cerebral white matter atrophy	1436	CSF1R	OMIM:221820
HP:0012762	Cerebral white matter atrophy	4099	MAG	OMIM:616680
HP:0012762	Cerebral white matter atrophy	84340	GFM2	ORPHA:565624
HP:0012762	Cerebral white matter atrophy	5832	ALDH18A1	OMIM:616586
HP:0012762	Cerebral white matter atrophy	5832	ALDH18A1	ORPHA:447753
HP:0012762	Cerebral white matter atrophy	5832	ALDH18A1	OMIM:601162
HP:0012762	Cerebral white matter atrophy	5832	ALDH18A1	ORPHA:447760
HP:0012762	Cerebral white matter atrophy	4125	MAN2B1	OMIM:248500
HP:0012762	Cerebral white matter atrophy	777	CACNA1E	OMIM:618285
HP:0012762	Cerebral white matter atrophy	64207	IRF2BPL	OMIM:618088
HP:0012762	Cerebral white matter atrophy	84631	SLITRK2	OMIM:301107
HP:0012762	Cerebral white matter atrophy	51728	POLR3K	OMIM:619310
HP:0012762	Cerebral white matter atrophy	27247	NFU1	OMIM:620938
HP:0012762	Cerebral white matter atrophy	10273	STUB1	ORPHA:412057
HP:0012762	Cerebral white matter atrophy	9255	AIMP1	OMIM:260600
HP:0012762	Cerebral white matter atrophy	51692	CPSF3	OMIM:619876
HP:0012762	Cerebral white matter atrophy	3295	HSD17B4	OMIM:261515
HP:0012762	Cerebral white matter atrophy	4191	MDH2	OMIM:617339
HP:0012762	Cerebral white matter atrophy	4001	LMNB1	OMIM:169500
HP:0012762	Cerebral white matter atrophy	27072	VPS41	OMIM:619389
HP:0012762	Cerebral white matter atrophy	91875	TTC5	OMIM:619244
HP:0012762	Cerebral white matter atrophy	23065	EMC1	OMIM:616875
HP:0012762	Cerebral white matter atrophy	23065	EMC1	ORPHA:480898
HP:0012762	Cerebral white matter atrophy	79152	FA2H	ORPHA:171629
HP:0012762	Cerebral white matter atrophy	51761	ATP8A2	OMIM:615268
HP:0012762	Cerebral white matter atrophy	9409	PEX16	OMIM:614877
HP:0012762	Cerebral white matter atrophy	57704	GBA2	ORPHA:320391
HP:0012762	Cerebral white matter atrophy	8890	EIF2B4	OMIM:620314
HP:0012762	Cerebral white matter atrophy	79944	L2HGDH	OMIM:236792
HP:0012762	Cerebral white matter atrophy	90952	ESAM	OMIM:620371
HP:0012762	Cerebral white matter atrophy	10466	COG5	ORPHA:263487
HP:0012762	Cerebral white matter atrophy	7874	USP7	ORPHA:500055
HP:0012762	Cerebral white matter atrophy	10134	BCAP31	ORPHA:369939
HP:0012762	Cerebral white matter atrophy	63899	NSUN3	OMIM:619012
HP:0012762	Cerebral white matter atrophy	1387	CREBBP	ORPHA:592574
HP:0012762	Cerebral white matter atrophy	1161	ERCC8	ORPHA:90324
HP:0012762	Cerebral white matter atrophy	2074	ERCC6	ORPHA:90324
HP:0012762	Cerebral white matter atrophy	7355	SLC35A2	ORPHA:356961
HP:0012762	Cerebral white matter atrophy	8818	DPM2	ORPHA:329178
HP:0012762	Cerebral white matter atrophy	8818	DPM2	OMIM:615042
HP:0012762	Cerebral white matter atrophy	10195	ALG3	ORPHA:79321
HP:0012762	Cerebral white matter atrophy	200205	IBA57	ORPHA:468661
HP:0012762	Cerebral white matter atrophy	57531	HACE1	ORPHA:464282
HP:0012762	Cerebral white matter atrophy	6812	STXBP1	ORPHA:599373
HP:0012762	Cerebral white matter atrophy	60684	TRAPPC11	ORPHA:369840
HP:0012762	Cerebral white matter atrophy	128240	NAXE	OMIM:617186
HP:0012762	Cerebral white matter atrophy	440138	ALG11	ORPHA:280071
HP:0012762	Cerebral white matter atrophy	3658	IREB2	OMIM:618451
HP:0012762	Cerebral white matter atrophy	10398	MYL9	OMIM:619365
HP:0012762	Cerebral white matter atrophy	1641	DCX	ORPHA:2148
HP:0012762	Cerebral white matter atrophy	9373	PLAA	ORPHA:521426
HP:0012762	Cerebral white matter atrophy	84668	HYCC1	OMIM:610532
HP:0012762	Cerebral white matter atrophy	26227	PHGDH	ORPHA:79351
HP:0012762	Cerebral white matter atrophy	6311	ATXN2	ORPHA:98756
HP:0012762	Cerebral white matter atrophy	443	ASPA	ORPHA:314911
HP:0012762	Cerebral white matter atrophy	3417	IDH1	ORPHA:99646
HP:0007443	Partial albinism	4286	MITF	OMIM:193510
HP:0007443	Partial albinism	7306	TYRP1	OMIM:203290
HP:0007443	Partial albinism	5077	PAX3	OMIM:193500
HP:0007443	Partial albinism	5077	PAX3	OMIM:148820
HP:0007443	Partial albinism	79803	HPS6	OMIM:614075
HP:0007443	Partial albinism	3815	KIT	OMIM:172800
HP:0007443	Partial albinism	7543	ZFX	OMIM:301118
HP:0007443	Partial albinism	4644	MYO5A	ORPHA:79476
HP:0007443	Partial albinism	4644	MYO5A	ORPHA:79478
HP:0007443	Partial albinism	5873	RAB27A	ORPHA:79477
HP:0007443	Partial albinism	28956	LAMTOR2	ORPHA:90023
HP:0007443	Partial albinism	79083	MLPH	ORPHA:79478
HP:0001028	Hemangioma	9897	WASHC5	ORPHA:7
HP:0001028	Hemangioma	28952	CCDC22	ORPHA:7
HP:0001028	Hemangioma	57020	VPS35L	ORPHA:7
HP:0001028	Hemangioma	56896	DPYSL5	ORPHA:7
HP:0001028	Hemangioma	2776	GNAQ	OMIM:185300
HP:0001028	Hemangioma	171023	ASXL1	OMIM:605039
HP:0001028	Hemangioma	9630	GNA14	ORPHA:1063
HP:0001028	Hemangioma	5500	PPP1CB	OMIM:617506
HP:0001028	Hemangioma	79644	SRD5A3	OMIM:612713
HP:0001028	Hemangioma	26040	SETBP1	OMIM:269150
HP:0001028	Hemangioma	26040	SETBP1	ORPHA:798
HP:0001028	Hemangioma	246329	STAC3	ORPHA:168572
HP:0001028	Hemangioma	1717	DHCR7	OMIM:270400
HP:0001028	Hemangioma	1717	DHCR7	ORPHA:818
HP:0001028	Hemangioma	80036	TRPM3	OMIM:620224
HP:0001028	Hemangioma	9939	RBM8A	OMIM:274000
HP:0001028	Hemangioma	8036	SHOC2	OMIM:607721
HP:0001028	Hemangioma	7428	VHL	OMIM:263400
HP:0001028	Hemangioma	7428	VHL	OMIM:171300
HP:0001028	Hemangioma	23013	SPEN	OMIM:619312
HP:0001028	Hemangioma	8367	H4C5	OMIM:619950
HP:0001028	Hemangioma	23135	KDM6B	OMIM:618505
HP:0001028	Hemangioma	55654	TMEM127	OMIM:171300
HP:0001028	Hemangioma	4149	MAX	OMIM:171300
HP:0001028	Hemangioma	5979	RET	OMIM:171300
HP:0001028	Hemangioma	811	CALR	ORPHA:824
HP:0001028	Hemangioma	4352	MPL	ORPHA:824
HP:0001028	Hemangioma	3717	JAK2	ORPHA:824
HP:0001028	Hemangioma	54790	TET2	ORPHA:824
HP:0001028	Hemangioma	4893	NRAS	OMIM:163200
HP:0001028	Hemangioma	3845	KRAS	OMIM:163200
HP:0001028	Hemangioma	3265	HRAS	OMIM:163200
HP:0001028	Hemangioma	3265	HRAS	ORPHA:2874
HP:0001028	Hemangioma	64324	NSD1	ORPHA:821
HP:0001028	Hemangioma	10297	APC2	ORPHA:821
HP:0001028	Hemangioma	5605	MAP2K2	OMIM:615280
HP:0001028	Hemangioma	284058	KANSL1	ORPHA:363965
HP:0001028	Hemangioma	284058	KANSL1	ORPHA:363958
HP:0001028	Hemangioma	11235	PDCD10	ORPHA:221061
HP:0001028	Hemangioma	5290	PIK3CA	ORPHA:221061
HP:0001028	Hemangioma	5290	PIK3CA	ORPHA:90308
HP:0001028	Hemangioma	83605	CCM2	ORPHA:221061
HP:0001028	Hemangioma	889	KRIT1	ORPHA:221061
HP:0001028	Hemangioma	2324	FLT4	OMIM:153100
HP:0001028	Hemangioma	207	AKT1	OMIM:176920
HP:0001028	Hemangioma	10483	SEC23B	OMIM:616858
HP:0001028	Hemangioma	2050	EPHB4	ORPHA:137667
HP:0001028	Hemangioma	5921	RASA1	ORPHA:137667
HP:0001028	Hemangioma	5728	PTEN	ORPHA:2969
HP:0001028	Hemangioma	5728	PTEN	ORPHA:79076
HP:0001028	Hemangioma	5476	CTSA	OMIM:256540
HP:0001028	Hemangioma	2260	FGFR1	ORPHA:280200
HP:0001028	Hemangioma	28514	DLL1	ORPHA:280200
HP:0001028	Hemangioma	2253	FGF8	ORPHA:280200
HP:0001028	Hemangioma	6496	SIX3	ORPHA:280200
HP:0001028	Hemangioma	7050	TGIF1	ORPHA:280200
HP:0001028	Hemangioma	4838	NODAL	ORPHA:280200
HP:0001028	Hemangioma	6469	SHH	ORPHA:280200
HP:0001028	Hemangioma	51684	SUFU	ORPHA:280200
HP:0001028	Hemangioma	7546	ZIC2	ORPHA:280200
HP:0001028	Hemangioma	2619	GAS1	ORPHA:280200
HP:0001028	Hemangioma	84976	DISP1	ORPHA:280200
HP:0001028	Hemangioma	2736	GLI2	ORPHA:280200
HP:0001028	Hemangioma	8928	FOXH1	ORPHA:280200
HP:0001028	Hemangioma	6997	CRIPTO	ORPHA:280200
HP:0001028	Hemangioma	5727	PTCH1	ORPHA:280200
HP:0001028	Hemangioma	50937	CDON	ORPHA:280200
HP:0001028	Hemangioma	8813	DPM1	OMIM:608799
HP:0001028	Hemangioma	5745	PTH1R	ORPHA:296
HP:0001028	Hemangioma	3418	IDH2	ORPHA:296
HP:0001028	Hemangioma	3417	IDH1	ORPHA:296
HP:0001028	Hemangioma	57492	ARID1B	OMIM:135900
HP:0001028	Hemangioma	10082	GPC6	OMIM:258315
HP:0001028	Hemangioma	340665	CYP26C1	ORPHA:398189
HP:0001028	Hemangioma	23219	FBXO28	OMIM:619777
HP:0001028	Hemangioma	55109	AGGF1	ORPHA:90308
HP:0001028	Hemangioma	55901	THSD1	OMIM:620244
HP:0001028	Hemangioma	10312	TCIRG1	ORPHA:486
HP:0001028	Hemangioma	6728	SRP19	ORPHA:486
HP:0001028	Hemangioma	1991	ELANE	ORPHA:486
HP:0001028	Hemangioma	2672	GFI1	ORPHA:486
HP:0001028	Hemangioma	81570	CLPB	ORPHA:486
HP:0001028	Hemangioma	10943	MSL3	OMIM:301032
HP:0001028	Hemangioma	10815	CPLX1	ORPHA:280
HP:0001028	Hemangioma	10815	CPLX1	OMIM:194190
HP:0001028	Hemangioma	54872	PIGG	ORPHA:280
HP:0001028	Hemangioma	7469	NELFA	ORPHA:280
HP:0001028	Hemangioma	1487	CTBP1	ORPHA:280
HP:0001028	Hemangioma	1487	CTBP1	OMIM:194190
HP:0001028	Hemangioma	3954	LETM1	ORPHA:280
HP:0001028	Hemangioma	3954	LETM1	OMIM:194190
HP:0001028	Hemangioma	7468	NSD2	ORPHA:280
HP:0001028	Hemangioma	7468	NSD2	OMIM:194190
HP:0001028	Hemangioma	4763	NF1	ORPHA:363700
HP:0001028	Hemangioma	2475	MTOR	ORPHA:457485
HP:0001028	Hemangioma	7020	TFAP2A	ORPHA:1297
HP:0001028	Hemangioma	84168	ANTXR1	ORPHA:2067
HP:0001028	Hemangioma	657	BMPR1A	ORPHA:79076
HP:0001028	Hemangioma	53834	FGFRL1	OMIM:194190
HP:0001028	Hemangioma	78987	CRELD1	OMIM:620771
HP:0001028	Hemangioma	6390	SDHB	ORPHA:201
HP:0001028	Hemangioma	6392	SDHD	ORPHA:201
HP:0001028	Hemangioma	6391	SDHC	ORPHA:201
HP:0001028	Hemangioma	205717	USF3	ORPHA:201
HP:0001028	Hemangioma	100144748	KLLN	ORPHA:201
HP:0001028	Hemangioma	7010	TEK	ORPHA:1059
HP:0001028	Hemangioma	4851	NOTCH1	OMIM:616028
HP:0001028	Hemangioma	673	BRAF	OMIM:115150
HP:0001028	Hemangioma	673	BRAF	ORPHA:1340
HP:0001028	Hemangioma	5604	MAP2K1	ORPHA:1340
HP:0001028	Hemangioma	26834	RNU4-2	OMIM:620851
HP:0001028	Hemangioma	79158	GNPTAB	OMIM:252500
HP:0001028	Hemangioma	274	BIN1	ORPHA:169189
HP:0001028	Hemangioma	64419	MTMR14	ORPHA:169189
HP:0001028	Hemangioma	4618	MYF6	ORPHA:169189
HP:0001028	Hemangioma	1785	DNM2	ORPHA:169189
HP:0001028	Hemangioma	6261	RYR1	ORPHA:169189
HP:0001028	Hemangioma	3239	HOXD13	ORPHA:887
HP:0001028	Hemangioma	2535	FZD2	OMIM:164745
HP:0001028	Hemangioma	22800	RRAS2	OMIM:618624
HP:0001028	Hemangioma	1836	SLC26A2	OMIM:222600
HP:0001028	Hemangioma	6909	TBX2	OMIM:618223
HP:0001028	Hemangioma	2137	EXTL3	ORPHA:508533
HP:0001028	Hemangioma	9653	HS2ST1	OMIM:619194
HP:0001028	Hemangioma	10484	SEC23A	ORPHA:50814
HP:0001028	Hemangioma	10484	SEC23A	OMIM:607812
HP:0001028	Hemangioma	2033	EP300	OMIM:180849
HP:0001028	Hemangioma	1387	CREBBP	OMIM:180849
HP:0001028	Hemangioma	1857	DVL3	ORPHA:3107
HP:0001028	Hemangioma	7474	WNT5A	ORPHA:3107
HP:0001028	Hemangioma	1855	DVL1	ORPHA:3107
HP:0001028	Hemangioma	526	ATP6V1B2	ORPHA:79500
HP:0001028	Hemangioma	57465	TBC1D24	ORPHA:79500
HP:0001028	Hemangioma	22827	PUF60	ORPHA:508488
HP:0001028	Hemangioma	3791	KDR	OMIM:602089
HP:0001028	Hemangioma	129563	DIS3L2	ORPHA:2849
HP:0001028	Hemangioma	2767	GNA11	ORPHA:1556
HP:0001028	Hemangioma	151188	ARL6IP6	ORPHA:1556
HP:0001028	Hemangioma	440275	EIF2AK4	OMIM:234810
HP:0001028	Hemangioma	440275	EIF2AK4	ORPHA:199241
HP:0001028	Hemangioma	826	CAPNS1	OMIM:620777
HP:0001028	Hemangioma	9401	RECQL4	OMIM:218600
HP:0001028	Hemangioma	4247	MGAT2	OMIM:212066
HP:0001028	Hemangioma	5447	POR	ORPHA:95699
HP:0001028	Hemangioma	157570	ESCO2	OMIM:268300
HP:0001028	Hemangioma	2737	GLI3	ORPHA:672
HP:0001028	Hemangioma	2737	GLI3	OMIM:146510
HP:0001028	Hemangioma	10225	CD96	ORPHA:1308
HP:0001028	Hemangioma	595	CCND1	ORPHA:892
HP:0001028	Hemangioma	595	CCND1	OMIM:193300
HP:0001028	Hemangioma	1743	DLST	ORPHA:29072
HP:0001028	Hemangioma	4191	MDH2	ORPHA:29072
HP:0001028	Hemangioma	6389	SDHA	ORPHA:29072
HP:0001028	Hemangioma	23095	KIF1B	ORPHA:29072
HP:0001028	Hemangioma	2271	FH	ORPHA:29072
HP:0001028	Hemangioma	8402	SLC25A11	ORPHA:29072
HP:0001028	Hemangioma	54949	SDHAF2	ORPHA:29072
HP:0001028	Hemangioma	490	ATP2B1	OMIM:619910
HP:0001028	Hemangioma	2658	GDF2	ORPHA:774
HP:0001028	Hemangioma	94	ACVRL1	ORPHA:774
HP:0001028	Hemangioma	4089	SMAD4	ORPHA:774
HP:0001028	Hemangioma	2022	ENG	ORPHA:774
HP:0001028	Hemangioma	2263	FGFR2	ORPHA:1555
HP:0001028	Hemangioma	4771	NF2	ORPHA:93921
HP:0001028	Hemangioma	6598	SMARCB1	ORPHA:93921
HP:0001028	Hemangioma	51004	COQ6	ORPHA:93921
HP:0001028	Hemangioma	8216	LZTR1	ORPHA:93921
HP:0007446	Palmoplantar blistering	5317	PKP1	OMIM:604536
HP:0007446	Palmoplantar blistering	1294	COL7A1	ORPHA:79409
HP:0007446	Palmoplantar blistering	1294	COL7A1	ORPHA:79410
HP:0007446	Palmoplantar blistering	3861	KRT14	ORPHA:89838
HP:0007446	Palmoplantar blistering	3861	KRT14	OMIM:131800
HP:0007446	Palmoplantar blistering	3861	KRT14	ORPHA:79400
HP:0007446	Palmoplantar blistering	3852	KRT5	OMIM:619555
HP:0007446	Palmoplantar blistering	3852	KRT5	OMIM:619588
HP:0007446	Palmoplantar blistering	3852	KRT5	OMIM:619594
HP:0007446	Palmoplantar blistering	3852	KRT5	ORPHA:79400
HP:0007446	Palmoplantar blistering	3848	KRT1	ORPHA:530838
HP:0007446	Palmoplantar blistering	3868	KRT16	ORPHA:2309
HP:0007446	Palmoplantar blistering	3872	KRT17	ORPHA:2309
HP:0007446	Palmoplantar blistering	3853	KRT6A	ORPHA:2309
HP:0007446	Palmoplantar blistering	3854	KRT6B	ORPHA:2309
HP:0007446	Palmoplantar blistering	5339	PLEC	ORPHA:79401
HP:0007446	Palmoplantar blistering	1828	DSG1	OMIM:148700
HP:0007447	Diffuse palmoplantar hyperkeratosis	3848	KRT1	ORPHA:79503
HP:0007447	Diffuse palmoplantar hyperkeratosis	3848	KRT1	ORPHA:530838
HP:0007447	Diffuse palmoplantar hyperkeratosis	3848	KRT1	ORPHA:2199
HP:0007447	Diffuse palmoplantar hyperkeratosis	362	AQP5	OMIM:600231
HP:0007447	Diffuse palmoplantar hyperkeratosis	362	AQP5	ORPHA:2337
HP:0007447	Diffuse palmoplantar hyperkeratosis	3728	JUP	OMIM:601214
HP:0007447	Diffuse palmoplantar hyperkeratosis	57152	SLURP1	ORPHA:86923
HP:0007447	Diffuse palmoplantar hyperkeratosis	145264	SERPINA12	ORPHA:86923
HP:0007447	Diffuse palmoplantar hyperkeratosis	54800	KLHL24	OMIM:617294
HP:0007447	Diffuse palmoplantar hyperkeratosis	9342	SNAP29	ORPHA:66631
HP:0007447	Diffuse palmoplantar hyperkeratosis	79651	RHBDF2	OMIM:148500
HP:0007447	Diffuse palmoplantar hyperkeratosis	11012	KLK11	OMIM:620507
HP:0007447	Diffuse palmoplantar hyperkeratosis	3868	KRT16	ORPHA:2199
HP:0007447	Diffuse palmoplantar hyperkeratosis	3857	KRT9	ORPHA:2199
HP:0007448	Hyperkeratosis over edematous areas	2324	FLT4	OMIM:153100
HP:0007449	Confetti-like hypopigmented macules	4221	MEN1	ORPHA:652
HP:0007449	Confetti-like hypopigmented macules	4221	MEN1	OMIM:131100
HP:0007449	Confetti-like hypopigmented macules	1027	CDKN1B	ORPHA:652
HP:0007449	Confetti-like hypopigmented macules	1027	CDKN1B	ORPHA:276152
HP:0007449	Confetti-like hypopigmented macules	1026	CDKN1A	ORPHA:652
HP:0007449	Confetti-like hypopigmented macules	1030	CDKN2B	ORPHA:652
HP:0007449	Confetti-like hypopigmented macules	1031	CDKN2C	ORPHA:652
HP:0007449	Confetti-like hypopigmented macules	4841	NONO	ORPHA:466791
HP:0007449	Confetti-like hypopigmented macules	3458	IFNG	ORPHA:805
HP:0007449	Confetti-like hypopigmented macules	7248	TSC1	ORPHA:805
HP:0007449	Confetti-like hypopigmented macules	7249	TSC2	ORPHA:805
HP:0007430	Generalized edema	4638	MYLK	OMIM:249210
HP:0007430	Generalized edema	285489	DOK7	OMIM:618389
HP:0007430	Generalized edema	79989	IFT56	OMIM:619534
HP:0007430	Generalized edema	9722	NOS1AP	OMIM:619155
HP:0007430	Generalized edema	9780	PIEZO1	OMIM:616843
HP:0007430	Generalized edema	54916	TMEM260	OMIM:617478
HP:0007430	Generalized edema	7841	MOGS	OMIM:606056
HP:0007430	Generalized edema	7841	MOGS	ORPHA:79330
HP:0007430	Generalized edema	2492	FSHR	ORPHA:64739
HP:0007430	Generalized edema	5551	PRF1	OMIM:603553
HP:0007430	Generalized edema	197131	UBR1	OMIM:243800
HP:0007430	Generalized edema	1604	CD55	OMIM:226300
HP:0007430	Generalized edema	10203	CALCRL	OMIM:618773
HP:0007430	Generalized edema	396	ARHGDIA	OMIM:615244
HP:0007430	Generalized edema	3075	CFH	ORPHA:244242
HP:0007430	Generalized edema	3426	CFI	ORPHA:244242
HP:0007430	Generalized edema	4179	CD46	ORPHA:244242
HP:0007430	Generalized edema	101101692	HELLPAR	ORPHA:244242
HP:0007430	Generalized edema	26227	PHGDH	OMIM:256520
HP:0007430	Generalized edema	83483	PLVAP	OMIM:618183
HP:0007430	Generalized edema	5373	PMM2	ORPHA:79318
HP:0007430	Generalized edema	1798	DPAGT1	ORPHA:86309
HP:0007430	Generalized edema	51422	PRKAG2	OMIM:261740
HP:0007430	Generalized edema	50619	DEF6	OMIM:619573
HP:0007430	Generalized edema	950	SCARB2	OMIM:254900
HP:0007430	Generalized edema	10056	FARSB	OMIM:613658
HP:0007430	Generalized edema	5428	POLG	OMIM:203700
HP:0007430	Generalized edema	4868	NPHS1	OMIM:256300
HP:0007431	Congenital ichthyosiform erythroderma	59344	ALOXE3	OMIM:242100
HP:0007431	Congenital ichthyosiform erythroderma	242	ALOX12B	OMIM:242100
HP:0007431	Congenital ichthyosiform erythroderma	6768	ST14	OMIM:602400
HP:0007431	Congenital ichthyosiform erythroderma	10682	EBP	OMIM:302960
HP:0007431	Congenital ichthyosiform erythroderma	7051	TGM1	OMIM:242300
HP:0007431	Congenital ichthyosiform erythroderma	10804	GJB6	ORPHA:477
HP:0007431	Congenital ichthyosiform erythroderma	2706	GJB2	ORPHA:477
HP:0007431	Congenital ichthyosiform erythroderma	26154	ABCA12	OMIM:242500
HP:0007431	Congenital ichthyosiform erythroderma	26154	ABCA12	ORPHA:457
HP:0007431	Congenital ichthyosiform erythroderma	404672	GTF2H5	OMIM:616395
HP:0007431	Congenital ichthyosiform erythroderma	50814	NSDHL	OMIM:308050
HP:0007431	Congenital ichthyosiform erythroderma	11012	KLK11	OMIM:620507
HP:0007431	Congenital ichthyosiform erythroderma	412	STS	OMIM:308100
HP:0007431	Congenital ichthyosiform erythroderma	3858	KRT10	ORPHA:312
HP:0007431	Congenital ichthyosiform erythroderma	3858	KRT10	OMIM:607602
HP:0007431	Congenital ichthyosiform erythroderma	3848	KRT1	ORPHA:312
HP:0007431	Congenital ichthyosiform erythroderma	3848	KRT1	OMIM:113800
HP:0007431	Congenital ichthyosiform erythroderma	3849	KRT2	OMIM:146800
HP:0007431	Congenital ichthyosiform erythroderma	3868	KRT16	OMIM:613000
HP:0007431	Congenital ichthyosiform erythroderma	126410	CYP4F22	OMIM:604777
HP:0007431	Congenital ichthyosiform erythroderma	6820	SULT2B1	OMIM:617571
HP:0007431	Congenital ichthyosiform erythroderma	348938	NIPAL4	OMIM:612281
HP:0007431	Congenital ichthyosiform erythroderma	2629	GBA1	ORPHA:85212
HP:0007431	Congenital ichthyosiform erythroderma	2629	GBA1	OMIM:608013
HP:0007431	Congenital ichthyosiform erythroderma	2629	GBA1	ORPHA:77260
HP:0007431	Congenital ichthyosiform erythroderma	51099	ABHD5	ORPHA:98907
HP:0007431	Congenital ichthyosiform erythroderma	51099	ABHD5	OMIM:275630
HP:0007431	Congenital ichthyosiform erythroderma	6897	TARS1	OMIM:618546
HP:0007431	Congenital ichthyosiform erythroderma	51371	POMP	OMIM:601952
HP:0007431	Congenital ichthyosiform erythroderma	2071	ERCC3	OMIM:616390
HP:0007431	Congenital ichthyosiform erythroderma	2068	ERCC2	OMIM:601675
HP:0007431	Congenital ichthyosiform erythroderma	204219	CERS3	OMIM:615023
HP:0007431	Congenital ichthyosiform erythroderma	285848	PNPLA1	OMIM:615024
HP:0007431	Congenital ichthyosiform erythroderma	11005	SPINK5	OMIM:256500
HP:0007431	Congenital ichthyosiform erythroderma	11005	SPINK5	ORPHA:634
HP:0007431	Congenital ichthyosiform erythroderma	151516	ASPRV1	OMIM:146750
HP:0007431	Congenital ichthyosiform erythroderma	6785	ELOVL4	OMIM:614457
HP:0007431	Congenital ichthyosiform erythroderma	2531	KDSR	OMIM:617526
HP:0007431	Congenital ichthyosiform erythroderma	4014	LORICRIN	ORPHA:79395
HP:0007431	Congenital ichthyosiform erythroderma	51163	DBR1	OMIM:620510
HP:0012770	Reduced arm span	4094	MAF	ORPHA:1272
HP:0012770	Reduced arm span	1297	COL9A1	ORPHA:166002
HP:0012770	Reduced arm span	1298	COL9A2	ORPHA:166002
HP:0012770	Reduced arm span	1299	COL9A3	ORPHA:166002
HP:0025051	Reduced brain creatine level by MRS	6535	SLC6A8	OMIM:300352
HP:0025051	Reduced brain creatine level by MRS	2593	GAMT	OMIM:612736
HP:0025051	Reduced brain creatine level by MRS	2628	GATM	OMIM:612718
HP:0025052	Abnormal brain N-acetyl aspartate level by MRS	55210	ATAD3A	OMIM:617183
HP:0025052	Abnormal brain N-acetyl aspartate level by MRS	1267	CNP	OMIM:619071
HP:0025052	Abnormal brain N-acetyl aspartate level by MRS	55768	NGLY1	OMIM:615273
HP:0025052	Abnormal brain N-acetyl aspartate level by MRS	339983	NAT8L	OMIM:614063
HP:0025052	Abnormal brain N-acetyl aspartate level by MRS	8913	CACNA1G	ORPHA:458803
HP:0025052	Abnormal brain N-acetyl aspartate level by MRS	644096	SDHAF1	OMIM:619166
HP:0025052	Abnormal brain N-acetyl aspartate level by MRS	6392	SDHD	OMIM:619167
HP:0025052	Abnormal brain N-acetyl aspartate level by MRS	84340	GFM2	OMIM:618397
HP:0025052	Abnormal brain N-acetyl aspartate level by MRS	27247	NFU1	OMIM:620938
HP:0025052	Abnormal brain N-acetyl aspartate level by MRS	23219	FBXO28	OMIM:619777
HP:0025052	Abnormal brain N-acetyl aspartate level by MRS	93627	TBCK	OMIM:616900
HP:0025052	Abnormal brain N-acetyl aspartate level by MRS	2653	GCSH	OMIM:620423
HP:0025052	Abnormal brain N-acetyl aspartate level by MRS	2917	GRM7	OMIM:618922
HP:0025052	Abnormal brain N-acetyl aspartate level by MRS	4713	NDUFB7	OMIM:620135
HP:0025052	Abnormal brain N-acetyl aspartate level by MRS	2581	GALC	ORPHA:206436
HP:0025052	Abnormal brain N-acetyl aspartate level by MRS	5660	PSAP	ORPHA:206436
HP:0025052	Abnormal brain N-acetyl aspartate level by MRS	9900	SV2A	OMIM:620772
HP:0025052	Abnormal brain N-acetyl aspartate level by MRS	8604	SLC25A12	OMIM:612949
HP:0025052	Abnormal brain N-acetyl aspartate level by MRS	7355	SLC35A2	ORPHA:356961
HP:0025052	Abnormal brain N-acetyl aspartate level by MRS	443	ASPA	OMIM:271900
HP:0025052	Abnormal brain N-acetyl aspartate level by MRS	443	ASPA	ORPHA:314911
HP:0025052	Abnormal brain N-acetyl aspartate level by MRS	10667	FARS2	OMIM:614946
HP:0025052	Abnormal brain N-acetyl aspartate level by MRS	54914	FOCAD	OMIM:619991
HP:0025053	Elevated brain N-acetyl aspartate level by MRS	7355	SLC35A2	ORPHA:356961
HP:0025053	Elevated brain N-acetyl aspartate level by MRS	443	ASPA	OMIM:271900
HP:0025053	Elevated brain N-acetyl aspartate level by MRS	443	ASPA	ORPHA:314911
HP:0025053	Elevated brain N-acetyl aspartate level by MRS	10667	FARS2	OMIM:614946
HP:0025053	Elevated brain N-acetyl aspartate level by MRS	54914	FOCAD	OMIM:619991
HP:0012774	Increased upper to lower segment ratio	2201	FBN2	OMIM:121050
HP:0012774	Increased upper to lower segment ratio	2245	FGD1	OMIM:305400
HP:0012775	Stellate iris	57479	PRR12	OMIM:619539
HP:0012775	Stellate iris	6638	SNRPN	ORPHA:177907
HP:0012776	Abnormal ciliary body morphology	3913	LAMB2	OMIM:609049
HP:0012776	Abnormal ciliary body morphology	8314	BAP1	ORPHA:39044
HP:0012776	Abnormal ciliary body morphology	57105	CYSLTR2	ORPHA:39044
HP:0012776	Abnormal ciliary body morphology	2776	GNAQ	ORPHA:39044
HP:0012776	Abnormal ciliary body morphology	2767	GNA11	ORPHA:39044
HP:0012776	Abnormal ciliary body morphology	23451	SF3B1	ORPHA:39044
HP:0025057	Abnormal olfactory lobe morphology	3730	ANOS1	OMIM:308700
HP:0025057	Abnormal olfactory lobe morphology	54903	MKS1	OMIM:249000
HP:0025057	Abnormal olfactory lobe morphology	1908	EDN3	ORPHA:897
HP:0025057	Abnormal olfactory lobe morphology	4286	MITF	ORPHA:897
HP:0025057	Abnormal olfactory lobe morphology	1910	EDNRB	ORPHA:897
HP:0025057	Abnormal olfactory lobe morphology	6663	SOX10	ORPHA:897
HP:0025057	Abnormal olfactory lobe morphology	5277	PIGA	OMIM:300868
HP:0025057	Abnormal olfactory lobe morphology	5189	PEX1	OMIM:214100
HP:0025058	Hypothalamic atrophy	80208	SPG11	ORPHA:2822
HP:0012778	Retinal astrocytic hamartoma	3458	IFNG	ORPHA:805
HP:0012778	Retinal astrocytic hamartoma	7248	TSC1	ORPHA:805
HP:0012778	Retinal astrocytic hamartoma	7249	TSC2	ORPHA:805
HP:0012777	Retinal neoplasm	5925	RB1	ORPHA:1587
HP:0012777	Retinal neoplasm	5925	RB1	OMIM:180200
HP:0012777	Retinal neoplasm	5925	RB1	OMIM:259500
HP:0012777	Retinal neoplasm	7157	TP53	OMIM:259500
HP:0012777	Retinal neoplasm	11200	CHEK2	OMIM:259500
HP:0012771	Increased arm span	6399	TRAPPC2	ORPHA:93284
HP:0012771	Increased arm span	2200	FBN1	ORPHA:284979
HP:0012771	Increased arm span	6874	TAF4	OMIM:620450
HP:0012771	Increased arm span	7043	TGFB3	OMIM:615582
HP:0012771	Increased arm span	64324	NSD1	ORPHA:821
HP:0012771	Increased arm span	10297	APC2	ORPHA:821
HP:0012771	Increased arm span	1742	DLG4	OMIM:618793
HP:0012772	Abnormal upper to lower segment ratio	2200	FBN1	OMIM:154700
HP:0012772	Abnormal upper to lower segment ratio	2200	FBN1	OMIM:129600
HP:0012772	Abnormal upper to lower segment ratio	2201	FBN2	OMIM:121050
HP:0012772	Abnormal upper to lower segment ratio	2245	FGD1	OMIM:305400
HP:0012773	Reduced upper to lower segment ratio	2200	FBN1	OMIM:154700
HP:0012773	Reduced upper to lower segment ratio	2200	FBN1	OMIM:129600
HP:0007432	Intermittent generalized erythematous papular rash	3939	LDHA	ORPHA:284426
HP:0007432	Intermittent generalized erythematous papular rash	64127	NOD2	OMIM:186580
HP:0000978	Bruising susceptibility	4088	SMAD3	ORPHA:284984
HP:0000978	Bruising susceptibility	4088	SMAD3	OMIM:613795
HP:0000978	Bruising susceptibility	4088	SMAD3	ORPHA:60030
HP:0000978	Bruising susceptibility	4088	SMAD3	ORPHA:91387
HP:0000978	Bruising susceptibility	355	FAS	ORPHA:3261
HP:0000978	Bruising susceptibility	356	FASLG	ORPHA:3261
HP:0000978	Bruising susceptibility	843	CASP10	ORPHA:3261
HP:0000978	Bruising susceptibility	2157	F8	ORPHA:177926
HP:0000978	Bruising susceptibility	2157	F8	OMIM:306700
HP:0000978	Bruising susceptibility	2157	F8	ORPHA:169802
HP:0000978	Bruising susceptibility	2811	GP1BA	OMIM:153670
HP:0000978	Bruising susceptibility	2811	GP1BA	ORPHA:274
HP:0000978	Bruising susceptibility	2812	GP1BB	ORPHA:274
HP:0000978	Bruising susceptibility	2815	GP9	ORPHA:274
HP:0000978	Bruising susceptibility	2266	FGG	OMIM:202400
HP:0000978	Bruising susceptibility	2243	FGA	OMIM:202400
HP:0000978	Bruising susceptibility	2244	FGB	OMIM:202400
HP:0000978	Bruising susceptibility	1281	COL3A1	OMIM:618343
HP:0000978	Bruising susceptibility	1281	COL3A1	OMIM:130050
HP:0000978	Bruising susceptibility	1281	COL3A1	ORPHA:286
HP:0000978	Bruising susceptibility	5351	PLOD1	OMIM:225400
HP:0000978	Bruising susceptibility	5351	PLOD1	ORPHA:1900
HP:0000978	Bruising susceptibility	7148	TNXB	ORPHA:230839
HP:0000978	Bruising susceptibility	7148	TNXB	OMIM:606408
HP:0000978	Bruising susceptibility	2778	GNAS	OMIM:219080
HP:0000978	Bruising susceptibility	2778	GNAS	ORPHA:189427
HP:0000978	Bruising susceptibility	538	ATP7A	OMIM:304150
HP:0000978	Bruising susceptibility	538	ATP7A	ORPHA:198
HP:0000978	Bruising susceptibility	2202	EFEMP1	OMIM:620780
HP:0000978	Bruising susceptibility	10312	TCIRG1	ORPHA:667
HP:0000978	Bruising susceptibility	1186	CLCN7	ORPHA:667
HP:0000978	Bruising susceptibility	29887	SNX10	ORPHA:667
HP:0000978	Bruising susceptibility	8600	TNFSF11	ORPHA:667
HP:0000978	Bruising susceptibility	5551	PRF1	ORPHA:540
HP:0000978	Bruising susceptibility	8676	STX11	ORPHA:540
HP:0000978	Bruising susceptibility	201294	UNC13D	ORPHA:540
HP:0000978	Bruising susceptibility	6813	STXBP2	ORPHA:540
HP:0000978	Bruising susceptibility	2158	F9	OMIM:306900
HP:0000978	Bruising susceptibility	54453	RIN2	ORPHA:217335
HP:0000978	Bruising susceptibility	54453	RIN2	OMIM:613075
HP:0000978	Bruising susceptibility	1278	COL1A2	ORPHA:230851
HP:0000978	Bruising susceptibility	1278	COL1A2	OMIM:617821
HP:0000978	Bruising susceptibility	1278	COL1A2	OMIM:225320
HP:0000978	Bruising susceptibility	1278	COL1A2	OMIM:619120
HP:0000978	Bruising susceptibility	2623	GATA1	OMIM:300367
HP:0000978	Bruising susceptibility	2623	GATA1	OMIM:314050
HP:0000978	Bruising susceptibility	2175	FANCA	OMIM:227650
HP:0000978	Bruising susceptibility	2120	ETV6	OMIM:616216
HP:0000978	Bruising susceptibility	4893	NRAS	OMIM:613224
HP:0000978	Bruising susceptibility	4893	NRAS	ORPHA:648
HP:0000978	Bruising susceptibility	50940	PDE11A	OMIM:610475
HP:0000978	Bruising susceptibility	50940	PDE11A	ORPHA:1359
HP:0000978	Bruising susceptibility	2162	F13A1	OMIM:613225
HP:0000978	Bruising susceptibility	2162	F13A1	ORPHA:331
HP:0000978	Bruising susceptibility	55033	FKBP14	OMIM:614557
HP:0000978	Bruising susceptibility	55033	FKBP14	ORPHA:300179
HP:0000978	Bruising susceptibility	10235	RASGRP2	OMIM:615888
HP:0000978	Bruising susceptibility	1130	LYST	OMIM:214500
HP:0000978	Bruising susceptibility	1130	LYST	ORPHA:167
HP:0000978	Bruising susceptibility	1130	LYST	ORPHA:352723
HP:0000978	Bruising susceptibility	7132	TNFRSF1A	ORPHA:32960
HP:0000978	Bruising susceptibility	5573	PRKAR1A	ORPHA:1359
HP:0000978	Bruising susceptibility	5573	PRKAR1A	OMIM:610489
HP:0000978	Bruising susceptibility	5573	PRKAR1A	ORPHA:520
HP:0000978	Bruising susceptibility	2542	SLC37A4	ORPHA:79259
HP:0000978	Bruising susceptibility	23218	NBEAL2	OMIM:139090
HP:0000978	Bruising susceptibility	23218	NBEAL2	ORPHA:721
HP:0000978	Bruising susceptibility	2165	F13B	ORPHA:331
HP:0000978	Bruising susceptibility	2165	F13B	OMIM:613235
HP:0000978	Bruising susceptibility	63915	BLOC1S5	OMIM:619172
HP:0000978	Bruising susceptibility	84196	USP48	ORPHA:96253
HP:0000978	Bruising susceptibility	7157	TP53	ORPHA:96253
HP:0000978	Bruising susceptibility	7157	TP53	ORPHA:3318
HP:0000978	Bruising susceptibility	9101	USP8	ORPHA:96253
HP:0000978	Bruising susceptibility	9101	USP8	OMIM:219090
HP:0000978	Bruising susceptibility	64072	CDH23	ORPHA:96253
HP:0000978	Bruising susceptibility	2908	NR3C1	ORPHA:96253
HP:0000978	Bruising susceptibility	673	BRAF	ORPHA:96253
HP:0000978	Bruising susceptibility	673	BRAF	OMIM:163950
HP:0000978	Bruising susceptibility	546	ATRX	ORPHA:96253
HP:0000978	Bruising susceptibility	546	ATRX	ORPHA:231401
HP:0000978	Bruising susceptibility	3039	HBA1	ORPHA:98791
HP:0000978	Bruising susceptibility	3040	HBA2	ORPHA:98791
HP:0000978	Bruising susceptibility	165	AEBP1	OMIM:618000
HP:0000978	Bruising susceptibility	165	AEBP1	ORPHA:536532
HP:0000978	Bruising susceptibility	113189	CHST14	ORPHA:2953
HP:0000978	Bruising susceptibility	113189	CHST14	OMIM:601776
HP:0000978	Bruising susceptibility	29940	DSE	ORPHA:2953
HP:0000978	Bruising susceptibility	51206	GP6	OMIM:614201
HP:0000978	Bruising susceptibility	3717	JAK2	ORPHA:729
HP:0000978	Bruising susceptibility	3717	JAK2	ORPHA:3318
HP:0000978	Bruising susceptibility	5831	PYCR1	OMIM:612940
HP:0000978	Bruising susceptibility	3674	ITGA2B	ORPHA:849
HP:0000978	Bruising susceptibility	3674	ITGA2B	OMIM:273800
HP:0000978	Bruising susceptibility	3690	ITGB3	ORPHA:849
HP:0000978	Bruising susceptibility	3690	ITGB3	OMIM:619267
HP:0000978	Bruising susceptibility	90993	CREB3L1	OMIM:616229
HP:0000978	Bruising susceptibility	2159	F10	ORPHA:328
HP:0000978	Bruising susceptibility	9103	FCGR2C	ORPHA:3002
HP:0000978	Bruising susceptibility	2155	F7	ORPHA:327
HP:0000978	Bruising susceptibility	2155	F7	OMIM:227500
HP:0000978	Bruising susceptibility	2153	F5	ORPHA:326
HP:0000978	Bruising susceptibility	2153	F5	OMIM:227400
HP:0000978	Bruising susceptibility	1277	COL1A1	ORPHA:287
HP:0000978	Bruising susceptibility	1277	COL1A1	OMIM:130060
HP:0000978	Bruising susceptibility	1277	COL1A1	OMIM:619115
HP:0000978	Bruising susceptibility	1277	COL1A1	OMIM:166200
HP:0000978	Bruising susceptibility	1289	COL5A1	ORPHA:287
HP:0000978	Bruising susceptibility	1289	COL5A1	OMIM:130000
HP:0000978	Bruising susceptibility	1290	COL5A2	ORPHA:287
HP:0000978	Bruising susceptibility	1290	COL5A2	OMIM:130010
HP:0000978	Bruising susceptibility	861	RUNX1	OMIM:601399
HP:0000978	Bruising susceptibility	4627	MYH9	OMIM:155100
HP:0000978	Bruising susceptibility	4627	MYH9	ORPHA:182050
HP:0000978	Bruising susceptibility	4784	NFIX	ORPHA:561
HP:0000978	Bruising susceptibility	22852	ANKRD26	OMIM:188000
HP:0000978	Bruising susceptibility	9509	ADAMTS2	OMIM:225410
HP:0000978	Bruising susceptibility	2178	FANCE	OMIM:600901
HP:0000978	Bruising susceptibility	5339	PLEC	OMIM:131950
HP:0000978	Bruising susceptibility	11107	PRDM5	OMIM:614170
HP:0000978	Bruising susceptibility	11107	PRDM5	ORPHA:90354
HP:0000978	Bruising susceptibility	633	BGN	OMIM:300989
HP:0000978	Bruising susceptibility	4507	MTAP	OMIM:112250
HP:0000978	Bruising susceptibility	8985	PLOD3	OMIM:612394
HP:0000978	Bruising susceptibility	5328	PLAU	OMIM:601709
HP:0000978	Bruising susceptibility	342618	SLFN14	OMIM:616913
HP:0000978	Bruising susceptibility	9049	AIP	OMIM:219090
HP:0000978	Bruising susceptibility	200734	SPRED2	OMIM:619745
HP:0000978	Bruising susceptibility	200734	SPRED2	ORPHA:648
HP:0000978	Bruising susceptibility	2200	FBN1	OMIM:616914
HP:0000978	Bruising susceptibility	2200	FBN1	ORPHA:91387
HP:0000978	Bruising susceptibility	2316	FLNA	ORPHA:75497
HP:0000978	Bruising susceptibility	7450	VWF	OMIM:193400
HP:0000978	Bruising susceptibility	7450	VWF	OMIM:613554
HP:0000978	Bruising susceptibility	7450	VWF	OMIM:277480
HP:0000978	Bruising susceptibility	716	C1S	OMIM:617174
HP:0000978	Bruising susceptibility	10526	IPO8	OMIM:619472
HP:0000978	Bruising susceptibility	10526	IPO8	ORPHA:60030
HP:0000978	Bruising susceptibility	5566	PRKACA	OMIM:615830
HP:0000978	Bruising susceptibility	2677	GGCX	OMIM:277450
HP:0000978	Bruising susceptibility	2517	FUCA1	OMIM:230000
HP:0000978	Bruising susceptibility	540	ATP7B	ORPHA:905
HP:0000978	Bruising susceptibility	7058	THBS2	OMIM:620865
HP:0000978	Bruising susceptibility	3257	HPS1	OMIM:203300
HP:0000978	Bruising susceptibility	7454	WAS	ORPHA:906
HP:0000978	Bruising susceptibility	7454	WAS	OMIM:313900
HP:0000978	Bruising susceptibility	7456	WIPF1	ORPHA:906
HP:0000978	Bruising susceptibility	64805	P2RY12	OMIM:609821
HP:0000978	Bruising susceptibility	3845	KRAS	OMIM:609942
HP:0000978	Bruising susceptibility	3845	KRAS	ORPHA:648
HP:0000978	Bruising susceptibility	5345	SERPINF2	ORPHA:79
HP:0000978	Bruising susceptibility	5345	SERPINF2	OMIM:262850
HP:0000978	Bruising susceptibility	715	C1R	OMIM:130080
HP:0000978	Bruising susceptibility	89781	HPS4	OMIM:614073
HP:0000978	Bruising susceptibility	11234	HPS5	OMIM:614074
HP:0000978	Bruising susceptibility	2934	GSN	ORPHA:85448
HP:0000978	Bruising susceptibility	84343	HPS3	OMIM:614072
HP:0000978	Bruising susceptibility	388552	BLOC1S3	OMIM:614077
HP:0000978	Bruising susceptibility	5594	MAPK1	OMIM:619087
HP:0000978	Bruising susceptibility	3998	LMAN1	ORPHA:35909
HP:0000978	Bruising susceptibility	90411	MCFD2	ORPHA:35909
HP:0000978	Bruising susceptibility	200931	SLC51A	OMIM:619484
HP:0000978	Bruising susceptibility	79803	HPS6	OMIM:614075
HP:0000978	Bruising susceptibility	84062	DTNBP1	OMIM:614076
HP:0000978	Bruising susceptibility	6786	STIM1	OMIM:185070
HP:0000978	Bruising susceptibility	79798	ARMC5	ORPHA:189427
HP:0000978	Bruising susceptibility	23028	KDM1A	ORPHA:189427
HP:0000978	Bruising susceptibility	10020	GNE	OMIM:620757
HP:0000978	Bruising susceptibility	84627	ZNF469	ORPHA:90354
HP:0000978	Bruising susceptibility	23387	SIK3	OMIM:618162
HP:0000978	Bruising susceptibility	126792	B3GALT6	ORPHA:536467
HP:0000978	Bruising susceptibility	11117	EMILIN1	OMIM:620080
HP:0000978	Bruising susceptibility	2177	FANCD2	OMIM:227646
HP:0000978	Bruising susceptibility	2176	FANCC	OMIM:227645
HP:0000978	Bruising susceptibility	81031	SLC2A10	OMIM:208050
HP:0000978	Bruising susceptibility	4087	SMAD2	OMIM:619656
HP:0000978	Bruising susceptibility	4087	SMAD2	ORPHA:60030
HP:0000978	Bruising susceptibility	4087	SMAD2	ORPHA:91387
HP:0000978	Bruising susceptibility	6915	TBXA2R	OMIM:614009
HP:0000978	Bruising susceptibility	2147	F2	OMIM:613679
HP:0000978	Bruising susceptibility	2624	GATA2	ORPHA:228423
HP:0000978	Bruising susceptibility	22800	RRAS2	ORPHA:648
HP:0000978	Bruising susceptibility	867	CBL	ORPHA:648
HP:0000978	Bruising susceptibility	8216	LZTR1	ORPHA:648
HP:0000978	Bruising susceptibility	6016	RIT1	ORPHA:648
HP:0000978	Bruising susceptibility	6237	RRAS	ORPHA:648
HP:0000978	Bruising susceptibility	5894	RAF1	ORPHA:648
HP:0000978	Bruising susceptibility	22808	MRAS	ORPHA:648
HP:0000978	Bruising susceptibility	6654	SOS1	ORPHA:648
HP:0000978	Bruising susceptibility	6654	SOS1	OMIM:610733
HP:0000978	Bruising susceptibility	6655	SOS2	ORPHA:648
HP:0000978	Bruising susceptibility	5781	PTPN11	ORPHA:648
HP:0000978	Bruising susceptibility	5781	PTPN11	OMIM:163950
HP:0000978	Bruising susceptibility	5922	RASA2	ORPHA:648
HP:0000978	Bruising susceptibility	7171	TPM4	OMIM:620486
HP:0000978	Bruising susceptibility	5795	PTPRJ	OMIM:620484
HP:0000978	Bruising susceptibility	4914	NTRK1	ORPHA:642
HP:0000978	Bruising susceptibility	6774	STAT3	ORPHA:520
HP:0000978	Bruising susceptibility	5371	PML	ORPHA:520
HP:0000978	Bruising susceptibility	5914	RARA	ORPHA:520
HP:0000978	Bruising susceptibility	359948	IRF2BP2	ORPHA:520
HP:0000978	Bruising susceptibility	81608	FIP1L1	ORPHA:520
HP:0000978	Bruising susceptibility	4869	NPM1	ORPHA:520
HP:0000978	Bruising susceptibility	54880	BCOR	ORPHA:520
HP:0000978	Bruising susceptibility	64859	NABP1	ORPHA:520
HP:0000978	Bruising susceptibility	6777	STAT5B	ORPHA:520
HP:0000978	Bruising susceptibility	4926	NUMA1	ORPHA:520
HP:0000978	Bruising susceptibility	7704	ZBTB16	ORPHA:520
HP:0000978	Bruising susceptibility	79718	TBL1XR1	ORPHA:520
HP:0000978	Bruising susceptibility	91252	SLC39A13	ORPHA:157965
HP:0000978	Bruising susceptibility	91252	SLC39A13	OMIM:612350
HP:0000978	Bruising susceptibility	7043	TGFB3	OMIM:615582
HP:0000978	Bruising susceptibility	7043	TGFB3	ORPHA:60030
HP:0000978	Bruising susceptibility	7043	TGFB3	ORPHA:91387
HP:0000978	Bruising susceptibility	7046	TGFBR1	ORPHA:60030
HP:0000978	Bruising susceptibility	7046	TGFBR1	ORPHA:91387
HP:0000978	Bruising susceptibility	7048	TGFBR2	ORPHA:60030
HP:0000978	Bruising susceptibility	7048	TGFBR2	ORPHA:91387
HP:0000978	Bruising susceptibility	7042	TGFB2	ORPHA:60030
HP:0000978	Bruising susceptibility	7042	TGFB2	OMIM:614816
HP:0000978	Bruising susceptibility	7042	TGFB2	ORPHA:91387
HP:0000978	Bruising susceptibility	10019	SH2B3	ORPHA:3318
HP:0000978	Bruising susceptibility	811	CALR	ORPHA:3318
HP:0000978	Bruising susceptibility	4352	MPL	ORPHA:3318
HP:0000978	Bruising susceptibility	54790	TET2	ORPHA:3318
HP:0000978	Bruising susceptibility	335	APOA1	OMIM:620657
HP:0000978	Bruising susceptibility	5167	ENPP1	ORPHA:758
HP:0000978	Bruising susceptibility	368	ABCC6	ORPHA:758
HP:0000978	Bruising susceptibility	4629	MYH11	ORPHA:91387
HP:0000978	Bruising susceptibility	4015	LOX	ORPHA:91387
HP:0000978	Bruising susceptibility	4089	SMAD4	ORPHA:91387
HP:0000978	Bruising susceptibility	59	ACTA2	ORPHA:91387
HP:0000978	Bruising susceptibility	5592	PRKG1	ORPHA:91387
HP:0000978	Bruising susceptibility	2301	FOXE3	ORPHA:91387
HP:0000978	Bruising susceptibility	4144	MAT2A	ORPHA:91387
HP:0000978	Bruising susceptibility	23493	HEY2	ORPHA:91387
HP:0000978	Bruising susceptibility	8076	MFAP5	ORPHA:91387
HP:0000978	Bruising susceptibility	4638	MYLK	ORPHA:91387
HP:0000978	Bruising susceptibility	79875	THSD4	ORPHA:91387
HP:0000978	Bruising susceptibility	2006	ELN	ORPHA:91387
HP:0000978	Bruising susceptibility	5604	MAP2K1	OMIM:163950
HP:0000978	Bruising susceptibility	2629	GBA1	ORPHA:77259
HP:0000978	Bruising susceptibility	950	SCARB2	ORPHA:77259
HP:0000978	Bruising susceptibility	8328	GFI1B	OMIM:187900
HP:0000968	Ectodermal dysplasia	8626	TP63	OMIM:106260
HP:0000968	Ectodermal dysplasia	8626	TP63	OMIM:604292
HP:0000968	Ectodermal dysplasia	8626	TP63	ORPHA:1896
HP:0000968	Ectodermal dysplasia	8626	TP63	OMIM:103285
HP:0000968	Ectodermal dysplasia	5317	PKP1	OMIM:604536
HP:0000968	Ectodermal dysplasia	8313	AXIN2	ORPHA:401911
HP:0000968	Ectodermal dysplasia	83999	KREMEN1	OMIM:617392
HP:0000968	Ectodermal dysplasia	80326	WNT10A	OMIM:224750
HP:0000968	Ectodermal dysplasia	80326	WNT10A	ORPHA:50944
HP:0000968	Ectodermal dysplasia	132884	EVC2	OMIM:225500
HP:0000968	Ectodermal dysplasia	2121	EVC	OMIM:225500
HP:0000968	Ectodermal dysplasia	284058	KANSL1	ORPHA:363958
HP:0000968	Ectodermal dysplasia	284058	KANSL1	ORPHA:363965
HP:0000968	Ectodermal dysplasia	84876	ORAI1	OMIM:612782
HP:0000968	Ectodermal dysplasia	5818	NECTIN1	OMIM:225060
HP:0000968	Ectodermal dysplasia	5818	NECTIN1	ORPHA:3253
HP:0000968	Ectodermal dysplasia	81607	NECTIN4	OMIM:613573
HP:0000968	Ectodermal dysplasia	1001	CDH3	OMIM:225280
HP:0000968	Ectodermal dysplasia	57539	WDR35	OMIM:613610
HP:0000968	Ectodermal dysplasia	128178	EDARADD	OMIM:614941
HP:0000968	Ectodermal dysplasia	128178	EDARADD	OMIM:129490
HP:0000968	Ectodermal dysplasia	56916	SMARCAD1	OMIM:129200
HP:0000968	Ectodermal dysplasia	8517	IKBKG	OMIM:300291
HP:0000968	Ectodermal dysplasia	8517	IKBKG	ORPHA:98813
HP:0000968	Ectodermal dysplasia	55764	IFT122	OMIM:218330
HP:0000968	Ectodermal dysplasia	10804	GJB6	OMIM:129500
HP:0000968	Ectodermal dysplasia	10913	EDAR	OMIM:129490
HP:0000968	Ectodermal dysplasia	51360	MBTPS2	OMIM:308205
HP:0000968	Ectodermal dysplasia	112752	IFT43	OMIM:614099
HP:0000968	Ectodermal dysplasia	22861	NLRP1	OMIM:615225
HP:0000968	Ectodermal dysplasia	3229	HOXC13	OMIM:614931
HP:0000968	Ectodermal dysplasia	4792	NFKBIA	ORPHA:98813
HP:0000968	Ectodermal dysplasia	526	ATP6V1B2	OMIM:124480
HP:0000968	Ectodermal dysplasia	1896	EDA	OMIM:305100
HP:0007437	Multiple cutaneous leiomyomas	2271	FH	OMIM:150800
HP:0007437	Multiple cutaneous leiomyomas	2271	FH	ORPHA:523
HP:0007438	Mottled pigmentation of the trunk and proximal extremities	3852	KRT5	OMIM:131960
HP:0000975	Hyperhidrosis	6335	SCN9A	OMIM:133020
HP:0000975	Hyperhidrosis	6335	SCN9A	ORPHA:970
HP:0000975	Hyperhidrosis	26191	PTPN22	ORPHA:397
HP:0000975	Hyperhidrosis	3106	HLA-B	ORPHA:397
HP:0000975	Hyperhidrosis	3123	HLA-DRB1	ORPHA:397
HP:0000975	Hyperhidrosis	3123	HLA-DRB1	ORPHA:2073
HP:0000975	Hyperhidrosis	8974	P4HA2	ORPHA:397
HP:0000975	Hyperhidrosis	4352	MPL	ORPHA:71493
HP:0000975	Hyperhidrosis	7066	THPO	ORPHA:71493
HP:0000975	Hyperhidrosis	3717	JAK2	ORPHA:71493
HP:0000975	Hyperhidrosis	23769	FLRT1	ORPHA:320406
HP:0000975	Hyperhidrosis	64837	KLC2	ORPHA:320406
HP:0000975	Hyperhidrosis	64837	KLC2	OMIM:609541
HP:0000975	Hyperhidrosis	1291	COL6A1	OMIM:254090
HP:0000975	Hyperhidrosis	3094	HINT1	ORPHA:324442
HP:0000975	Hyperhidrosis	3094	HINT1	OMIM:137200
HP:0000975	Hyperhidrosis	6390	SDHB	OMIM:115310
HP:0000975	Hyperhidrosis	23516	SLC39A14	OMIM:617013
HP:0000975	Hyperhidrosis	8518	ELP1	ORPHA:1764
HP:0000975	Hyperhidrosis	55654	TMEM127	OMIM:171300
HP:0000975	Hyperhidrosis	4149	MAX	OMIM:171300
HP:0000975	Hyperhidrosis	5979	RET	OMIM:171300
HP:0000975	Hyperhidrosis	7428	VHL	OMIM:171300
HP:0000975	Hyperhidrosis	7428	VHL	ORPHA:892
HP:0000975	Hyperhidrosis	673	BRAF	OMIM:115150
HP:0000975	Hyperhidrosis	673	BRAF	OMIM:613706
HP:0000975	Hyperhidrosis	1736	DKC1	OMIM:305000
HP:0000975	Hyperhidrosis	1736	DKC1	ORPHA:1775
HP:0000975	Hyperhidrosis	9881	TRANK1	ORPHA:33543
HP:0000975	Hyperhidrosis	6571	SLC18A2	ORPHA:352649
HP:0000975	Hyperhidrosis	6571	SLC18A2	OMIM:618049
HP:0000975	Hyperhidrosis	362	AQP5	ORPHA:2337
HP:0000975	Hyperhidrosis	3190	HNRNPK	ORPHA:453504
HP:0000975	Hyperhidrosis	3190	HNRNPK	ORPHA:352665
HP:0000975	Hyperhidrosis	1308	COL17A1	ORPHA:79406
HP:0000975	Hyperhidrosis	3481	IGF2	ORPHA:231140
HP:0000975	Hyperhidrosis	283120	H19	ORPHA:231140
HP:0000975	Hyperhidrosis	3728	JUP	ORPHA:34217
HP:0000975	Hyperhidrosis	3074	HEXB	OMIM:268800
HP:0000975	Hyperhidrosis	1644	DDC	ORPHA:35708
HP:0000975	Hyperhidrosis	1644	DDC	OMIM:608643
HP:0000975	Hyperhidrosis	3248	HPGD	ORPHA:217059
HP:0000975	Hyperhidrosis	3248	HPGD	ORPHA:2796
HP:0000975	Hyperhidrosis	3248	HPGD	OMIM:259100
HP:0000975	Hyperhidrosis	3736	KCNA1	ORPHA:37612
HP:0000975	Hyperhidrosis	3508	IGHMBP2	OMIM:604320
HP:0000975	Hyperhidrosis	6391	SDHC	OMIM:605373
HP:0000975	Hyperhidrosis	65125	WNK1	ORPHA:970
HP:0000975	Hyperhidrosis	54463	RETREG1	ORPHA:970
HP:0000975	Hyperhidrosis	547	KIF1A	ORPHA:970
HP:0000975	Hyperhidrosis	1185	CLCN6	OMIM:619173
HP:0000975	Hyperhidrosis	2263	FGFR2	ORPHA:87
HP:0000975	Hyperhidrosis	2263	FGFR2	OMIM:101200
HP:0000975	Hyperhidrosis	9630	GNA14	ORPHA:1063
HP:0000975	Hyperhidrosis	8929	PHOX2B	ORPHA:2151
HP:0000975	Hyperhidrosis	8929	PHOX2B	OMIM:209880
HP:0000975	Hyperhidrosis	114548	NLRP3	ORPHA:47045
HP:0000975	Hyperhidrosis	6578	SLCO2A1	OMIM:614441
HP:0000975	Hyperhidrosis	6578	SLCO2A1	ORPHA:2796
HP:0000975	Hyperhidrosis	6578	SLCO2A1	OMIM:167100
HP:0000975	Hyperhidrosis	80204	FBXO11	OMIM:618089
HP:0000975	Hyperhidrosis	7555	CNBP	ORPHA:606
HP:0000975	Hyperhidrosis	80326	WNT10A	OMIM:257980
HP:0000975	Hyperhidrosis	83550	GPR101	ORPHA:963
HP:0000975	Hyperhidrosis	83550	GPR101	OMIM:300942
HP:0000975	Hyperhidrosis	9049	AIP	ORPHA:963
HP:0000975	Hyperhidrosis	9049	AIP	ORPHA:99725
HP:0000975	Hyperhidrosis	3852	KRT5	ORPHA:79400
HP:0000975	Hyperhidrosis	3861	KRT14	ORPHA:79400
HP:0000975	Hyperhidrosis	2717	GLA	ORPHA:324
HP:0000975	Hyperhidrosis	5621	PRNP	OMIM:600072
HP:0000975	Hyperhidrosis	5621	PRNP	ORPHA:466
HP:0000975	Hyperhidrosis	1828	DSG1	OMIM:148700
HP:0000975	Hyperhidrosis	84133	ZNRF3	ORPHA:1501
HP:0000975	Hyperhidrosis	7157	TP53	ORPHA:1501
HP:0000975	Hyperhidrosis	5573	PRKAR1A	ORPHA:1501
HP:0000975	Hyperhidrosis	1499	CTNNB1	ORPHA:1501
HP:0000975	Hyperhidrosis	1029	CDKN2A	ORPHA:1501
HP:0000975	Hyperhidrosis	7015	TERT	ORPHA:1501
HP:0000975	Hyperhidrosis	7015	TERT	ORPHA:1775
HP:0000975	Hyperhidrosis	6898	TAT	ORPHA:28378
HP:0000975	Hyperhidrosis	8802	SUCLG1	OMIM:245400
HP:0000975	Hyperhidrosis	8802	SUCLG1	ORPHA:17
HP:0000975	Hyperhidrosis	3172	HNF4A	ORPHA:263455
HP:0000975	Hyperhidrosis	1508	CTSB	ORPHA:50943
HP:0000975	Hyperhidrosis	3977	LIFR	OMIM:601559
HP:0000975	Hyperhidrosis	3977	LIFR	ORPHA:3206
HP:0000975	Hyperhidrosis	64072	CDH23	ORPHA:91347
HP:0000975	Hyperhidrosis	388962	BOLA3	OMIM:614299
HP:0000975	Hyperhidrosis	11280	SCN11A	OMIM:615548
HP:0000975	Hyperhidrosis	200734	SPRED2	OMIM:619745
HP:0000975	Hyperhidrosis	6392	SDHD	OMIM:168000
HP:0000975	Hyperhidrosis	9244	CRLF1	OMIM:272430
HP:0000975	Hyperhidrosis	9244	CRLF1	ORPHA:1545
HP:0000975	Hyperhidrosis	55768	NGLY1	OMIM:615273
HP:0000975	Hyperhidrosis	330	BIRC3	ORPHA:52417
HP:0000975	Hyperhidrosis	10892	MALT1	ORPHA:52417
HP:0000975	Hyperhidrosis	27086	FOXP1	ORPHA:52417
HP:0000975	Hyperhidrosis	3492	IGH	ORPHA:52417
HP:0000975	Hyperhidrosis	8915	BCL10	ORPHA:52417
HP:0000975	Hyperhidrosis	1001	CDH3	OMIM:225280
HP:0000975	Hyperhidrosis	5604	MAP2K1	OMIM:615279
HP:0000975	Hyperhidrosis	8710	SERPINB7	ORPHA:140966
HP:0000975	Hyperhidrosis	773	CACNA1A	ORPHA:2131
HP:0000975	Hyperhidrosis	6507	SLC1A3	ORPHA:2131
HP:0000975	Hyperhidrosis	477	ATP1A2	ORPHA:2131
HP:0000975	Hyperhidrosis	478	ATP1A3	ORPHA:2131
HP:0000975	Hyperhidrosis	4221	MEN1	ORPHA:97279
HP:0000975	Hyperhidrosis	4221	MEN1	ORPHA:99725
HP:0000975	Hyperhidrosis	7528	YY1	ORPHA:97279
HP:0000975	Hyperhidrosis	100134444	KCNJ18	ORPHA:79102
HP:0000975	Hyperhidrosis	2556	GABRA3	ORPHA:79102
HP:0000975	Hyperhidrosis	779	CACNA1S	ORPHA:79102
HP:0000975	Hyperhidrosis	6697	SPR	ORPHA:70594
HP:0000975	Hyperhidrosis	2517	FUCA1	ORPHA:349
HP:0000975	Hyperhidrosis	8517	IKBKG	ORPHA:464
HP:0000975	Hyperhidrosis	2887	GRB10	ORPHA:96182
HP:0000975	Hyperhidrosis	5605	MAP2K2	OMIM:615280
HP:0000975	Hyperhidrosis	57152	SLURP1	ORPHA:87503
HP:0000975	Hyperhidrosis	57152	SLURP1	OMIM:248300
HP:0000975	Hyperhidrosis	162514	TRPV3	OMIM:614594
HP:0000975	Hyperhidrosis	9373	PLAA	ORPHA:521426
HP:0000975	Hyperhidrosis	10161	LPAR6	OMIM:278150
HP:0000975	Hyperhidrosis	8450	CUL4B	ORPHA:85293
HP:0000975	Hyperhidrosis	55164	SHQ1	OMIM:619922
HP:0000975	Hyperhidrosis	3853	KRT6A	OMIM:615726
HP:0000975	Hyperhidrosis	595	CCND1	ORPHA:892
HP:0000975	Hyperhidrosis	1512	CTSH	ORPHA:2073
HP:0000975	Hyperhidrosis	5032	P2RY11	ORPHA:2073
HP:0000975	Hyperhidrosis	4340	MOG	ORPHA:2073
HP:0000975	Hyperhidrosis	3119	HLA-DQB1	ORPHA:2073
HP:0000975	Hyperhidrosis	3060	HCRT	ORPHA:2073
HP:0000975	Hyperhidrosis	22891	ZNF365	ORPHA:2073
HP:0000975	Hyperhidrosis	7292	TNFSF4	ORPHA:2073
HP:0000975	Hyperhidrosis	5818	NECTIN1	OMIM:225060
HP:0000975	Hyperhidrosis	3868	KRT16	ORPHA:2199
HP:0000975	Hyperhidrosis	3857	KRT9	ORPHA:2199
HP:0000975	Hyperhidrosis	3848	KRT1	ORPHA:2199
HP:0000975	Hyperhidrosis	3265	HRAS	ORPHA:2874
HP:0000975	Hyperhidrosis	23529	CLCF1	ORPHA:1545
HP:0000975	Hyperhidrosis	4914	NTRK1	ORPHA:642
HP:0000975	Hyperhidrosis	8803	SUCLA2	OMIM:612073
HP:0000975	Hyperhidrosis	667	DST	OMIM:614653
HP:0000975	Hyperhidrosis	80169	CTC1	ORPHA:1775
HP:0000975	Hyperhidrosis	26277	TINF2	ORPHA:1775
HP:0000975	Hyperhidrosis	55651	NHP2	ORPHA:1775
HP:0000975	Hyperhidrosis	79650	USB1	ORPHA:1775
HP:0000975	Hyperhidrosis	55135	WRAP53	ORPHA:1775
HP:0000975	Hyperhidrosis	51750	RTEL1	ORPHA:1775
HP:0000975	Hyperhidrosis	4869	NPM1	ORPHA:1775
HP:0000975	Hyperhidrosis	7012	TERC	ORPHA:1775
HP:0000975	Hyperhidrosis	55505	NOP10	ORPHA:1775
HP:0000975	Hyperhidrosis	5073	PARN	ORPHA:1775
HP:0000975	Hyperhidrosis	7298	TYMS	ORPHA:1775
HP:0000975	Hyperhidrosis	3145	HMBS	ORPHA:79276
HP:0000975	Hyperhidrosis	1188	CLCNKB	ORPHA:358
HP:0000975	Hyperhidrosis	6559	SLC12A3	ORPHA:358
HP:0000975	Hyperhidrosis	3767	KCNJ11	ORPHA:276580
HP:0000975	Hyperhidrosis	1743	DLST	ORPHA:29072
HP:0000975	Hyperhidrosis	4191	MDH2	ORPHA:29072
HP:0000975	Hyperhidrosis	6389	SDHA	ORPHA:29072
HP:0000975	Hyperhidrosis	23095	KIF1B	ORPHA:29072
HP:0000975	Hyperhidrosis	2271	FH	ORPHA:29072
HP:0000975	Hyperhidrosis	8402	SLC25A11	ORPHA:29072
HP:0000975	Hyperhidrosis	54949	SDHAF2	ORPHA:29072
HP:0000975	Hyperhidrosis	4763	NF1	ORPHA:29072
HP:0000975	Hyperhidrosis	7351	UCP2	ORPHA:276556
HP:0000975	Hyperhidrosis	1788	DNMT3A	ORPHA:276621
HP:0000975	Hyperhidrosis	2034	EPAS1	ORPHA:276621
HP:0000975	Hyperhidrosis	6927	HNF1A	ORPHA:324575
HP:0000975	Hyperhidrosis	6833	ABCC8	ORPHA:276575
HP:0000975	Hyperhidrosis	229	ALDOB	ORPHA:469
HP:0000975	Hyperhidrosis	170689	ADAMTS15	OMIM:620545
HP:0000975	Hyperhidrosis	3914	LAMB3	OMIM:226650
HP:0000975	Hyperhidrosis	1080	CFTR	ORPHA:498359
HP:0000975	Hyperhidrosis	3872	KRT17	OMIM:167210
HP:0000975	Hyperhidrosis	3872	KRT17	ORPHA:2309
HP:0000975	Hyperhidrosis	51360	MBTPS2	ORPHA:659
HP:0000975	Hyperhidrosis	64065	PERP	ORPHA:659
HP:0000975	Hyperhidrosis	284654	RSPO1	OMIM:610644
HP:0000975	Hyperhidrosis	3854	KRT6B	ORPHA:2309
HP:0000975	Hyperhidrosis	1041	CDSN	OMIM:270300
HP:0100324	Scleroderma	1410	CRYAB	OMIM:608810
HP:0100324	Scleroderma	7390	UROS	OMIM:263700
HP:0100324	Scleroderma	4000	LMNA	OMIM:151660
HP:0100324	Scleroderma	4000	LMNA	OMIM:619793
HP:0100324	Scleroderma	4000	LMNA	ORPHA:363618
HP:0100324	Scleroderma	3930	LBR	OMIM:613471
HP:0100324	Scleroderma	23592	LEMD3	ORPHA:166119
HP:0100324	Scleroderma	55315	SLC29A3	ORPHA:168569
HP:0100324	Scleroderma	5053	PAH	OMIM:261600
HP:0100324	Scleroderma	7389	UROD	OMIM:176100
HP:0100324	Scleroderma	7486	WRN	OMIM:277700
HP:0100324	Scleroderma	1188	CLCNKB	ORPHA:358
HP:0100324	Scleroderma	6559	SLC12A3	ORPHA:358
HP:0100324	Scleroderma	3514	IGKC	ORPHA:183675
HP:0100324	Scleroderma	3501	IGHG2	ORPHA:183675
HP:0007427	Reticulated skin pigmentation	55651	NHP2	OMIM:613987
HP:0007427	Reticulated skin pigmentation	3861	KRT14	ORPHA:69087
HP:0007427	Reticulated skin pigmentation	3861	KRT14	ORPHA:79397
HP:0007427	Reticulated skin pigmentation	1736	DKC1	OMIM:305000
HP:0007427	Reticulated skin pigmentation	3852	KRT5	ORPHA:79397
HP:0007427	Reticulated skin pigmentation	7015	TERT	OMIM:613989
HP:0007427	Reticulated skin pigmentation	26277	TINF2	OMIM:613990
HP:0007427	Reticulated skin pigmentation	55131	RBM28	OMIM:612079
HP:0007480	Decreased sweating due to autonomic dysfunction	4001	LMNB1	OMIM:169500
HP:0007480	Decreased sweating due to autonomic dysfunction	4001	LMNB1	ORPHA:99027
HP:0007481	Hyperpigmented nevi	55131	RBM28	ORPHA:157954
HP:0007481	Hyperpigmented nevi	4157	MC1R	ORPHA:79432
HP:0007481	Hyperpigmented nevi	4948	OCA2	ORPHA:79432
HP:0012780	Neoplasm of the ear	1146	CHRNG	OMIM:265000
HP:0012780	Neoplasm of the ear	10526	IPO8	OMIM:619472
HP:0012780	Neoplasm of the ear	207	AKT1	ORPHA:744
HP:0012780	Neoplasm of the ear	3735	KARS1	OMIM:613641
HP:0012780	Neoplasm of the ear	11235	PDCD10	ORPHA:221061
HP:0012780	Neoplasm of the ear	5290	PIK3CA	ORPHA:221061
HP:0012780	Neoplasm of the ear	83605	CCM2	ORPHA:221061
HP:0012780	Neoplasm of the ear	889	KRIT1	ORPHA:221061
HP:0012780	Neoplasm of the ear	161742	SPRED1	ORPHA:137605
HP:0012780	Neoplasm of the ear	3265	HRAS	OMIM:218040
HP:0012780	Neoplasm of the ear	6598	SMARCB1	OMIM:162091
HP:0012780	Neoplasm of the ear	4771	NF2	OMIM:101000
HP:0012780	Neoplasm of the ear	51004	COQ6	ORPHA:93921
HP:0012780	Neoplasm of the ear	8216	LZTR1	ORPHA:93921
HP:0012780	Neoplasm of the ear	6850	SYK	OMIM:619381
HP:0012780	Neoplasm of the ear	4784	NFIX	OMIM:602535
HP:0012780	Neoplasm of the ear	9382	COG1	OMIM:611209
HP:0012780	Neoplasm of the ear	7080	NKX2-1	OMIM:610978
HP:0012780	Neoplasm of the ear	2138	EYA1	OMIM:113650
HP:0012780	Neoplasm of the ear	6495	SIX1	OMIM:113650
HP:0012780	Neoplasm of the ear	4921	DDR2	OMIM:618175
HP:0012780	Neoplasm of the ear	54914	FOCAD	OMIM:619991
HP:0012780	Neoplasm of the ear	8085	KMT2D	OMIM:147920
HP:0012780	Neoplasm of the ear	7403	KDM6A	OMIM:147920
HP:0012780	Neoplasm of the ear	64324	NSD1	ORPHA:821
HP:0012780	Neoplasm of the ear	10297	APC2	ORPHA:821
HP:0012780	Neoplasm of the ear	7428	VHL	ORPHA:892
HP:0012780	Neoplasm of the ear	595	CCND1	ORPHA:892
HP:0025065	Abnormal mean corpuscular volume	3043	HBB	ORPHA:232
HP:0025065	Abnormal mean corpuscular volume	9493	KIF23	ORPHA:98870
HP:0025065	Abnormal mean corpuscular volume	29127	RACGAP1	ORPHA:98870
HP:0025065	Abnormal mean corpuscular volume	3978	LIG1	OMIM:619774
HP:0025065	Abnormal mean corpuscular volume	134218	DNAJC21	OMIM:617052
HP:0025065	Abnormal mean corpuscular volume	134218	DNAJC21	ORPHA:811
HP:0025065	Abnormal mean corpuscular volume	2694	CBLIF	OMIM:261000
HP:0025065	Abnormal mean corpuscular volume	3783	KCNN4	OMIM:616689
HP:0025065	Abnormal mean corpuscular volume	3783	KCNN4	ORPHA:3202
HP:0025065	Abnormal mean corpuscular volume	6135	RPL11	OMIM:612562
HP:0025065	Abnormal mean corpuscular volume	6135	RPL11	ORPHA:124
HP:0025065	Abnormal mean corpuscular volume	6125	RPL5	OMIM:612561
HP:0025065	Abnormal mean corpuscular volume	6125	RPL5	ORPHA:124
HP:0025065	Abnormal mean corpuscular volume	4194	MDM4	OMIM:618849
HP:0025065	Abnormal mean corpuscular volume	6201	RPS7	OMIM:612563
HP:0025065	Abnormal mean corpuscular volume	6201	RPS7	ORPHA:124
HP:0025065	Abnormal mean corpuscular volume	219285	SAMD9L	OMIM:252270
HP:0025065	Abnormal mean corpuscular volume	25913	POT1	OMIM:620367
HP:0025065	Abnormal mean corpuscular volume	10058	ABCB6	ORPHA:90044
HP:0025065	Abnormal mean corpuscular volume	27249	MMADHC	OMIM:277410
HP:0025065	Abnormal mean corpuscular volume	1719	DHFR	OMIM:613839
HP:0025065	Abnormal mean corpuscular volume	6521	SLC4A1	ORPHA:3202
HP:0025065	Abnormal mean corpuscular volume	9780	PIEZO1	ORPHA:3202
HP:0025065	Abnormal mean corpuscular volume	1854	DUT	OMIM:620044
HP:0025065	Abnormal mean corpuscular volume	6223	RPS19	OMIM:105650
HP:0025065	Abnormal mean corpuscular volume	6223	RPS19	ORPHA:124
HP:0025065	Abnormal mean corpuscular volume	6229	RPS24	OMIM:610629
HP:0025065	Abnormal mean corpuscular volume	6229	RPS24	ORPHA:124
HP:0025065	Abnormal mean corpuscular volume	54809	SAMD9	OMIM:619041
HP:0025065	Abnormal mean corpuscular volume	6138	RPL15	ORPHA:124
HP:0025065	Abnormal mean corpuscular volume	6224	RPS20	ORPHA:124
HP:0025065	Abnormal mean corpuscular volume	6165	RPL35A	ORPHA:124
HP:0025065	Abnormal mean corpuscular volume	6132	RPL8	ORPHA:124
HP:0025065	Abnormal mean corpuscular volume	6232	RPS27	ORPHA:124
HP:0025065	Abnormal mean corpuscular volume	55027	HEATR3	ORPHA:124
HP:0025065	Abnormal mean corpuscular volume	6160	RPL31	ORPHA:124
HP:0025065	Abnormal mean corpuscular volume	6155	RPL27	ORPHA:124
HP:0025065	Abnormal mean corpuscular volume	6234	RPS28	ORPHA:124
HP:0025065	Abnormal mean corpuscular volume	6204	RPS10	ORPHA:124
HP:0025065	Abnormal mean corpuscular volume	2623	GATA1	ORPHA:124
HP:0025065	Abnormal mean corpuscular volume	6133	RPL9	ORPHA:124
HP:0025065	Abnormal mean corpuscular volume	6231	RPS26	ORPHA:124
HP:0025065	Abnormal mean corpuscular volume	11224	RPL35	ORPHA:124
HP:0025065	Abnormal mean corpuscular volume	6218	RPS17	ORPHA:124
HP:0025065	Abnormal mean corpuscular volume	6154	RPL26	ORPHA:124
HP:0025065	Abnormal mean corpuscular volume	6210	RPS15A	ORPHA:124
HP:0025065	Abnormal mean corpuscular volume	90121	TSR2	ORPHA:124
HP:0025065	Abnormal mean corpuscular volume	90121	TSR2	OMIM:300946
HP:0025065	Abnormal mean corpuscular volume	6141	RPL18	ORPHA:124
HP:0025065	Abnormal mean corpuscular volume	6235	RPS29	ORPHA:124
HP:0025065	Abnormal mean corpuscular volume	51816	ADA2	ORPHA:124
HP:0025065	Abnormal mean corpuscular volume	23395	LARS2	OMIM:617021
HP:0025065	Abnormal mean corpuscular volume	29123	ANKRD11	ORPHA:261250
HP:0025065	Abnormal mean corpuscular volume	2120	ETV6	OMIM:616216
HP:0025065	Abnormal mean corpuscular volume	4552	MTRR	ORPHA:2169
HP:0025065	Abnormal mean corpuscular volume	26277	TINF2	OMIM:127550
HP:0025065	Abnormal mean corpuscular volume	7012	TERC	OMIM:127550
HP:0025065	Abnormal mean corpuscular volume	7015	TERT	OMIM:127550
HP:0025065	Abnormal mean corpuscular volume	79631	EFL1	ORPHA:811
HP:0025065	Abnormal mean corpuscular volume	51119	SBDS	ORPHA:811
HP:0025065	Abnormal mean corpuscular volume	6005	RHAG	ORPHA:3203
HP:0025065	Abnormal mean corpuscular volume	9663	LPIN2	OMIM:609628
HP:0025065	Abnormal mean corpuscular volume	164656	TMPRSS6	ORPHA:209981
HP:0025065	Abnormal mean corpuscular volume	374354	NHLRC2	OMIM:618278
HP:0025065	Abnormal mean corpuscular volume	55240	STEAP3	ORPHA:300298
HP:0025065	Abnormal mean corpuscular volume	55240	STEAP3	OMIM:615234
HP:0025065	Abnormal mean corpuscular volume	51218	GLRX5	OMIM:616860
HP:0025065	Abnormal mean corpuscular volume	4891	SLC11A2	OMIM:206100
HP:0025065	Abnormal mean corpuscular volume	54977	SLC25A38	OMIM:205950
HP:0025065	Abnormal mean corpuscular volume	2961	GTF2E2	OMIM:616943
HP:0025065	Abnormal mean corpuscular volume	51095	TRNT1	OMIM:616959
HP:0025065	Abnormal mean corpuscular volume	6710	SPTB	OMIM:617948
HP:0025066	Decreased mean corpuscular volume	9663	LPIN2	OMIM:609628
HP:0025066	Decreased mean corpuscular volume	3043	HBB	ORPHA:231222
HP:0025066	Decreased mean corpuscular volume	3043	HBB	ORPHA:231226
HP:0025066	Decreased mean corpuscular volume	3043	HBB	ORPHA:231214
HP:0025066	Decreased mean corpuscular volume	3043	HBB	ORPHA:90039
HP:0025066	Decreased mean corpuscular volume	3043	HBB	ORPHA:2133
HP:0025066	Decreased mean corpuscular volume	164656	TMPRSS6	ORPHA:209981
HP:0025066	Decreased mean corpuscular volume	374354	NHLRC2	OMIM:618278
HP:0025066	Decreased mean corpuscular volume	55240	STEAP3	ORPHA:300298
HP:0025066	Decreased mean corpuscular volume	55240	STEAP3	OMIM:615234
HP:0025066	Decreased mean corpuscular volume	6521	SLC4A1	OMIM:611590
HP:0025066	Decreased mean corpuscular volume	51218	GLRX5	OMIM:616860
HP:0025066	Decreased mean corpuscular volume	4891	SLC11A2	OMIM:206100
HP:0025066	Decreased mean corpuscular volume	54977	SLC25A38	OMIM:205950
HP:0025066	Decreased mean corpuscular volume	2961	GTF2E2	OMIM:616943
HP:0025066	Decreased mean corpuscular volume	51095	TRNT1	OMIM:616959
HP:0025066	Decreased mean corpuscular volume	6710	SPTB	OMIM:617948
HP:0012785	Flexion contracture of finger	64093	SMOC1	OMIM:206920
HP:0012785	Flexion contracture of finger	64093	SMOC1	ORPHA:1106
HP:0012785	Flexion contracture of finger	91179	SCARF2	OMIM:600920
HP:0012785	Flexion contracture of finger	7317	UBA1	ORPHA:1145
HP:0012785	Flexion contracture of finger	1292	COL6A2	OMIM:620725
HP:0012785	Flexion contracture of finger	1292	COL6A2	ORPHA:610
HP:0012785	Flexion contracture of finger	3868	KRT16	ORPHA:2199
HP:0012785	Flexion contracture of finger	3857	KRT9	ORPHA:2199
HP:0012785	Flexion contracture of finger	3848	KRT1	ORPHA:2199
HP:0012785	Flexion contracture of finger	2316	FLNA	OMIM:305620
HP:0012785	Flexion contracture of finger	2316	FLNA	ORPHA:1826
HP:0012785	Flexion contracture of finger	6885	MAP3K7	ORPHA:1826
HP:0012785	Flexion contracture of finger	1303	COL12A1	ORPHA:610
HP:0012785	Flexion contracture of finger	1291	COL6A1	ORPHA:610
HP:0012785	Flexion contracture of finger	1293	COL6A3	ORPHA:610
HP:0012785	Flexion contracture of finger	4313	MMP2	OMIM:259600
HP:0012785	Flexion contracture of finger	55628	ZNF407	OMIM:619557
HP:0012785	Flexion contracture of finger	23219	FBXO28	OMIM:619777
HP:0012785	Flexion contracture of finger	84265	POLR3GL	OMIM:619234
HP:0012785	Flexion contracture of finger	10297	APC2	ORPHA:821
HP:0012785	Flexion contracture of finger	80204	FBXO11	OMIM:618089
HP:0012785	Flexion contracture of finger	825	CAPN3	ORPHA:267
HP:0012785	Flexion contracture of finger	113179	ADAT3	ORPHA:363528
HP:0012785	Flexion contracture of finger	51305	KCNK9	ORPHA:166108
HP:0012785	Flexion contracture of finger	170689	ADAMTS15	OMIM:620545
HP:0012785	Flexion contracture of finger	6329	SCN4A	OMIM:620351
HP:0012785	Flexion contracture of finger	51114	ZDHHC9	OMIM:300799
HP:0012785	Flexion contracture of finger	10664	CTCF	ORPHA:363611
HP:0012785	Flexion contracture of finger	26053	AUTS2	ORPHA:352490
HP:0012785	Flexion contracture of finger	219854	TMEM218	OMIM:619562
HP:0012785	Flexion contracture of finger	23291	FBXW11	OMIM:618914
HP:0012785	Flexion contracture of finger	79912	PYROXD1	OMIM:617258
HP:0012785	Flexion contracture of finger	9757	KMT2B	OMIM:619934
HP:0012785	Flexion contracture of finger	3720	JARID2	OMIM:620098
HP:0012785	Flexion contracture of finger	10765	KDM5B	OMIM:618109
HP:0012785	Flexion contracture of finger	9487	PIGL	OMIM:280000
HP:0012785	Flexion contracture of finger	10093	ARPC4	OMIM:620141
HP:0012785	Flexion contracture of finger	25942	SIN3A	OMIM:613406
HP:0012785	Flexion contracture of finger	11011	TLK2	OMIM:618050
HP:0012785	Flexion contracture of finger	6909	TBX2	OMIM:618223
HP:0012785	Flexion contracture of finger	90459	ERI1	OMIM:620662
HP:0012785	Flexion contracture of finger	80816	ASXL3	OMIM:615485
HP:0012785	Flexion contracture of finger	81857	MED25	ORPHA:464738
HP:0012785	Flexion contracture of finger	8243	SMC1A	OMIM:301044
HP:0012785	Flexion contracture of finger	1277	COL1A1	OMIM:130060
HP:0012785	Flexion contracture of finger	23327	NEDD4L	OMIM:617201
HP:0012785	Flexion contracture of finger	8985	PLOD3	OMIM:612394
HP:0012785	Flexion contracture of finger	6134	RPL10	OMIM:300998
HP:0012785	Flexion contracture of finger	1889	ECE1	OMIM:613870
HP:0012785	Flexion contracture of finger	4010	LMX1B	ORPHA:2614
HP:0012785	Flexion contracture of finger	26092	TOR1AIP1	OMIM:617072
HP:0012785	Flexion contracture of finger	6662	SOX9	OMIM:114290
HP:0012785	Flexion contracture of finger	3425	IDUA	OMIM:607015
HP:0012785	Flexion contracture of finger	4297	KMT2A	OMIM:605130
HP:0012785	Flexion contracture of finger	1280	COL2A1	ORPHA:485
HP:0012785	Flexion contracture of finger	6840	SVIL	OMIM:619040
HP:0012785	Flexion contracture of finger	55315	SLC29A3	OMIM:602782
HP:0012785	Flexion contracture of finger	342035	GLDN	OMIM:617194
HP:0012785	Flexion contracture of finger	3861	KRT14	ORPHA:69087
HP:0012785	Flexion contracture of finger	57190	SELENON	ORPHA:2020
HP:0012785	Flexion contracture of finger	58	ACTA1	ORPHA:2020
HP:0012785	Flexion contracture of finger	4633	MYL2	ORPHA:2020
HP:0012785	Flexion contracture of finger	3679	ITGA7	ORPHA:2020
HP:0012785	Flexion contracture of finger	7169	TPM2	ORPHA:2020
HP:0012785	Flexion contracture of finger	9200	HACD1	ORPHA:2020
HP:0012785	Flexion contracture of finger	7170	TPM3	ORPHA:2020
HP:0012785	Flexion contracture of finger	51776	MAP3K20	ORPHA:2020
HP:0012785	Flexion contracture of finger	28982	FLVCR1	ORPHA:88628
HP:0012785	Flexion contracture of finger	28982	FLVCR1	OMIM:609033
HP:0012785	Flexion contracture of finger	4621	MYH3	OMIM:193700
HP:0012785	Flexion contracture of finger	5159	PDGFRB	OMIM:601812
HP:0012785	Flexion contracture of finger	388015	RTL1	ORPHA:254528
HP:0012785	Flexion contracture of finger	8788	DLK1	ORPHA:254528
HP:0012785	Flexion contracture of finger	55384	MEG3	ORPHA:254528
HP:0012785	Flexion contracture of finger	4921	DDR2	OMIM:618175
HP:0012785	Flexion contracture of finger	23345	SYNE1	OMIM:618484
HP:0012785	Flexion contracture of finger	23345	SYNE1	ORPHA:319332
HP:0012785	Flexion contracture of finger	3977	LIFR	ORPHA:3206
HP:0012785	Flexion contracture of finger	22880	MORC2	ORPHA:466768
HP:0012785	Flexion contracture of finger	2697	GJA1	ORPHA:1010
HP:0012785	Flexion contracture of finger	5696	PSMB8	OMIM:256040
HP:0012785	Flexion contracture of finger	4747	NEFL	ORPHA:101085
HP:0012785	Flexion contracture of finger	1859	DYRK1A	ORPHA:464311
HP:0012785	Flexion contracture of finger	5077	PAX3	OMIM:148820
HP:0012785	Flexion contracture of finger	203859	ANO5	ORPHA:206549
HP:0012785	Flexion contracture of finger	2218	FKTN	ORPHA:272
HP:0012785	Flexion contracture of finger	259232	NALCN	ORPHA:2053
HP:0012785	Flexion contracture of finger	259232	NALCN	ORPHA:1146
HP:0012785	Flexion contracture of finger	8294	H4C9	OMIM:619951
HP:0012785	Flexion contracture of finger	3094	HINT1	ORPHA:324442
HP:0012785	Flexion contracture of finger	8838	CCN6	OMIM:208230
HP:0012785	Flexion contracture of finger	1947	EFNB1	ORPHA:1520
HP:0012785	Flexion contracture of finger	7355	SLC35A2	ORPHA:356961
HP:0012785	Flexion contracture of finger	118429	ANTXR2	ORPHA:2176
HP:0012785	Flexion contracture of finger	9241	NOG	ORPHA:3250
HP:0012785	Flexion contracture of finger	8200	GDF5	ORPHA:3250
HP:0012785	Flexion contracture of finger	54968	TMEM70	ORPHA:1194
HP:0012785	Flexion contracture of finger	613	BCR	ORPHA:261330
HP:0012785	Flexion contracture of finger	1399	CRKL	ORPHA:261330
HP:0012785	Flexion contracture of finger	5594	MAPK1	ORPHA:261330
HP:0012785	Flexion contracture of finger	84466	MEGF10	OMIM:614399
HP:0012785	Flexion contracture of finger	72	ACTG2	ORPHA:2604
HP:0012785	Flexion contracture of finger	2201	FBN2	OMIM:121050
HP:0012785	Flexion contracture of finger	2201	FBN2	ORPHA:115
HP:0012785	Flexion contracture of finger	10216	PRG4	ORPHA:2848
HP:0012785	Flexion contracture of finger	3508	IGHMBP2	OMIM:604320
HP:0012785	Flexion contracture of finger	6926	TBX3	ORPHA:3138
HP:0012785	Flexion contracture of finger	51360	MBTPS2	ORPHA:2273
HP:0012785	Flexion contracture of finger	10381	TUBB3	OMIM:600638
HP:0012785	Flexion contracture of finger	9469	CHST3	OMIM:143095
HP:0012785	Flexion contracture of finger	3423	IDS	ORPHA:217085
HP:0012785	Flexion contracture of finger	3423	IDS	ORPHA:217093
HP:0012785	Flexion contracture of finger	64359	NXN	ORPHA:1507
HP:0012785	Flexion contracture of finger	4920	ROR2	ORPHA:1507
HP:0012785	Flexion contracture of finger	64127	NOD2	OMIM:186580
HP:0012785	Flexion contracture of finger	64127	NOD2	ORPHA:90340
HP:0012785	Flexion contracture of finger	6999	TDO2	OMIM:600627
HP:0012785	Flexion contracture of finger	1301	COL11A1	ORPHA:2021
HP:0012785	Flexion contracture of finger	1302	COL11A2	ORPHA:2021
HP:0012785	Flexion contracture of finger	4929	NR4A2	ORPHA:1617
HP:0012785	Flexion contracture of finger	10716	TBR1	ORPHA:1617
HP:0012785	Flexion contracture of finger	4593	MUSK	OMIM:208150
HP:0012785	Flexion contracture of finger	4593	MUSK	ORPHA:994
HP:0012785	Flexion contracture of finger	63895	PIEZO2	OMIM:114300
HP:0012785	Flexion contracture of finger	63895	PIEZO2	ORPHA:376
HP:0012785	Flexion contracture of finger	63895	PIEZO2	ORPHA:2461
HP:0012785	Flexion contracture of finger	56006	SMG9	OMIM:616920
HP:0012785	Flexion contracture of finger	1857	DVL3	ORPHA:3107
HP:0012785	Flexion contracture of finger	7474	WNT5A	ORPHA:3107
HP:0012785	Flexion contracture of finger	1855	DVL1	ORPHA:3107
HP:0012785	Flexion contracture of finger	2535	FZD2	ORPHA:3107
HP:0012785	Flexion contracture of finger	9508	ADAMTS3	ORPHA:2136
HP:0012785	Flexion contracture of finger	147372	CCBE1	ORPHA:2136
HP:0012785	Flexion contracture of finger	79633	FAT4	ORPHA:2136
HP:0012785	Flexion contracture of finger	5189	PEX1	ORPHA:3220
HP:0012785	Flexion contracture of finger	5190	PEX6	ORPHA:3220
HP:0012785	Flexion contracture of finger	5590	PRKCZ	ORPHA:1606
HP:0012785	Flexion contracture of finger	2563	GABRD	ORPHA:1606
HP:0012785	Flexion contracture of finger	23013	SPEN	ORPHA:1606
HP:0012785	Flexion contracture of finger	8510	MMP23B	ORPHA:1606
HP:0012785	Flexion contracture of finger	7798	LUZP1	ORPHA:1606
HP:0012785	Flexion contracture of finger	6497	SKI	ORPHA:1606
HP:0012785	Flexion contracture of finger	6497	SKI	ORPHA:2462
HP:0012785	Flexion contracture of finger	10630	PDPN	ORPHA:1606
HP:0012785	Flexion contracture of finger	3339	HSPG2	ORPHA:1606
HP:0012785	Flexion contracture of finger	10277	UBE4B	ORPHA:1606
HP:0012785	Flexion contracture of finger	8514	KCNAB2	ORPHA:1606
HP:0012785	Flexion contracture of finger	473	RERE	ORPHA:1606
HP:0012785	Flexion contracture of finger	63976	PRDM16	ORPHA:1606
HP:0012785	Flexion contracture of finger	54897	CASZ1	ORPHA:1606
HP:0012785	Flexion contracture of finger	9719	ADAMTSL2	OMIM:231050
HP:0012785	Flexion contracture of finger	4952	OCRL	OMIM:309000
HP:0012785	Flexion contracture of finger	8517	IKBKG	ORPHA:464
HP:0012785	Flexion contracture of finger	10436	EMG1	ORPHA:1270
HP:0012785	Flexion contracture of finger	57492	ARID1B	ORPHA:251056
HP:0012785	Flexion contracture of finger	11128	POLR3A	ORPHA:3455
HP:0012785	Flexion contracture of finger	2239	GPC4	ORPHA:373
HP:0012785	Flexion contracture of finger	2719	GPC3	ORPHA:373
HP:0012785	Flexion contracture of finger	55612	FERMT1	ORPHA:2908
HP:0012785	Flexion contracture of finger	23483	TGDS	ORPHA:1388
HP:0012785	Flexion contracture of finger	2260	FGFR1	OMIM:166250
HP:0012785	Flexion contracture of finger	7140	TNNT3	ORPHA:1146
HP:0012785	Flexion contracture of finger	7136	TNNI2	ORPHA:1146
HP:0012785	Flexion contracture of finger	7136	TNNI2	OMIM:601680
HP:0012785	Flexion contracture of finger	4604	MYBPC1	ORPHA:1146
HP:0012785	Flexion contracture of finger	117581	TWIST2	ORPHA:920
HP:0012785	Flexion contracture of finger	64324	NSD1	ORPHA:3447
HP:0012785	Flexion contracture of finger	23512	SUZ12	ORPHA:3447
HP:0012785	Flexion contracture of finger	2146	EZH2	ORPHA:3447
HP:0012785	Flexion contracture of finger	1723	DHODH	ORPHA:246
HP:0012785	Flexion contracture of finger	257	ALX3	ORPHA:391474
HP:0012785	Flexion contracture of finger	3239	HOXD13	OMIM:186300
HP:0012785	Flexion contracture of finger	3239	HOXD13	ORPHA:93406
HP:0012785	Flexion contracture of finger	54903	MKS1	OMIM:249000
HP:0012785	Flexion contracture of finger	91252	SLC39A13	OMIM:612350
HP:0012785	Flexion contracture of finger	22930	RAB3GAP1	OMIM:619420
HP:0012785	Flexion contracture of finger	7046	TGFBR1	ORPHA:60030
HP:0012785	Flexion contracture of finger	10526	IPO8	ORPHA:60030
HP:0012785	Flexion contracture of finger	7048	TGFBR2	ORPHA:60030
HP:0012785	Flexion contracture of finger	7042	TGFB2	ORPHA:60030
HP:0012785	Flexion contracture of finger	7043	TGFB3	ORPHA:60030
HP:0012785	Flexion contracture of finger	4087	SMAD2	ORPHA:60030
HP:0012785	Flexion contracture of finger	4088	SMAD3	ORPHA:60030
HP:0012785	Flexion contracture of finger	4088	SMAD3	ORPHA:284984
HP:0012785	Flexion contracture of finger	3897	L1CAM	ORPHA:2466
HP:0012785	Flexion contracture of finger	2245	FGD1	ORPHA:915
HP:0012785	Flexion contracture of finger	2200	FBN1	ORPHA:2462
HP:0012785	Flexion contracture of finger	7227	TRPS1	ORPHA:77258
HP:0012785	Flexion contracture of finger	27238	GPKOW	ORPHA:2570
HP:0012785	Flexion contracture of finger	10466	COG5	ORPHA:263487
HP:0012785	Flexion contracture of finger	23102	TBC1D2B	OMIM:619323
HP:0012785	Flexion contracture of finger	2068	ERCC2	OMIM:610756
HP:0012785	Flexion contracture of finger	2068	ERCC2	ORPHA:1466
HP:0012785	Flexion contracture of finger	65109	UPF3B	ORPHA:776
HP:0012785	Flexion contracture of finger	9968	MED12	ORPHA:776
HP:0012785	Flexion contracture of finger	2067	ERCC1	OMIM:610758
HP:0012785	Flexion contracture of finger	2067	ERCC1	ORPHA:1466
HP:0012785	Flexion contracture of finger	114548	NLRP3	ORPHA:575
HP:0012785	Flexion contracture of finger	2074	ERCC6	ORPHA:1466
HP:0012785	Flexion contracture of finger	2073	ERCC5	ORPHA:1466
HP:0012785	Flexion contracture of finger	134701	RIPPLY2	ORPHA:2311
HP:0012785	Flexion contracture of finger	10683	DLL3	ORPHA:2311
HP:0012785	Flexion contracture of finger	3955	LFNG	ORPHA:2311
HP:0012785	Flexion contracture of finger	84667	HES7	ORPHA:2311
HP:0012785	Flexion contracture of finger	145873	MESP2	ORPHA:2311
HP:0012785	Flexion contracture of finger	81620	CDT1	ORPHA:2554
HP:0012785	Flexion contracture of finger	5000	ORC4	ORPHA:2554
HP:0012785	Flexion contracture of finger	23594	ORC6	ORPHA:2554
HP:0012785	Flexion contracture of finger	8318	CDC45	ORPHA:2554
HP:0012785	Flexion contracture of finger	990	CDC6	ORPHA:2554
HP:0012785	Flexion contracture of finger	4998	ORC1	ORPHA:2554
HP:0012785	Flexion contracture of finger	51053	GMNN	ORPHA:2554
HP:0012785	Flexion contracture of finger	8260	NAA10	ORPHA:568
HP:0012785	Flexion contracture of finger	54880	BCOR	ORPHA:568
HP:0012785	Flexion contracture of finger	64327	LMBR1	ORPHA:93405
HP:0012785	Flexion contracture of finger	6469	SHH	ORPHA:93405
HP:0012785	Flexion contracture of finger	51715	RAB23	ORPHA:65759
HP:0012785	Flexion contracture of finger	1954	MEGF8	ORPHA:65759
HP:0012785	Flexion contracture of finger	55605	KIF21A	ORPHA:994
HP:0012785	Flexion contracture of finger	4927	NUP88	ORPHA:994
HP:0012785	Flexion contracture of finger	7846	TUBA1A	ORPHA:994
HP:0012785	Flexion contracture of finger	4654	MYOD1	ORPHA:994
HP:0012785	Flexion contracture of finger	54551	MAGEL2	ORPHA:994
HP:0012785	Flexion contracture of finger	5913	RAPSN	ORPHA:994
HP:0012785	Flexion contracture of finger	6572	SLC18A3	ORPHA:994
HP:0012785	Flexion contracture of finger	285489	DOK7	ORPHA:994
HP:0012785	Flexion contracture of finger	3914	LAMB3	OMIM:226650
HP:0012785	Flexion contracture of finger	8092	ALX1	ORPHA:306542
HP:0012785	Flexion contracture of finger	29895	MYL11	OMIM:619110
HP:0012785	Flexion contracture of finger	64840	PORCN	ORPHA:2092
HP:0012785	Flexion contracture of finger	23443	SLC35A3	OMIM:615553
HP:0012785	Flexion contracture of finger	285590	SH3PXD2B	ORPHA:137834
HP:0012785	Flexion contracture of finger	1836	SLC26A2	ORPHA:628
HP:0012785	Flexion contracture of finger	25914	RTTN	ORPHA:468631
HP:0012785	Flexion contracture of finger	9935	MAFB	ORPHA:2774
HP:0012785	Flexion contracture of finger	28952	CCDC22	OMIM:300963
HP:0012785	Flexion contracture of finger	8450	CUL4B	ORPHA:85293
HP:0012785	Flexion contracture of finger	8242	KDM5C	ORPHA:85279
HP:0012785	Flexion contracture of finger	59341	TRPV4	ORPHA:2635
HP:0012785	Flexion contracture of finger	2261	FGFR3	ORPHA:85164
HP:0012785	Flexion contracture of finger	4000	LMNA	ORPHA:1662
HP:0012785	Flexion contracture of finger	10269	ZMPSTE24	ORPHA:1662
HP:0012785	Flexion contracture of finger	1146	CHRNG	ORPHA:2990
HP:0012785	Flexion contracture of finger	23522	KAT6B	ORPHA:3047
HP:0012785	Flexion contracture of finger	26123	TCTN3	ORPHA:2753
HP:0012785	Flexion contracture of finger	64131	XYLT1	ORPHA:1425
HP:0012785	Flexion contracture of finger	124583	CANT1	ORPHA:1425
HP:0012785	Flexion contracture of finger	55790	CSGALNACT1	ORPHA:1425
HP:0012785	Flexion contracture of finger	23529	CLCF1	ORPHA:1545
HP:0012785	Flexion contracture of finger	9244	CRLF1	ORPHA:1545
HP:0012785	Flexion contracture of finger	79693	YRDC	ORPHA:2065
HP:0012785	Flexion contracture of finger	51002	TPRKB	ORPHA:2065
HP:0012785	Flexion contracture of finger	84942	WDR73	ORPHA:2065
HP:0012785	Flexion contracture of finger	55644	OSGEP	ORPHA:2065
HP:0012785	Flexion contracture of finger	57122	NUP107	ORPHA:2065
HP:0012785	Flexion contracture of finger	10785	WDR4	ORPHA:2065
HP:0012785	Flexion contracture of finger	55746	NUP133	ORPHA:2065
HP:0012785	Flexion contracture of finger	84520	GON7	ORPHA:2065
HP:0012785	Flexion contracture of finger	112858	TP53RK	ORPHA:2065
HP:0012785	Flexion contracture of finger	8270	LAGE3	ORPHA:2065
HP:0012785	Flexion contracture of finger	56916	SMARCAD1	ORPHA:1658
HP:0025068	Incomitant strabismus	57167	SALL4	ORPHA:233
HP:0025068	Incomitant strabismus	57167	SALL4	OMIM:607323
HP:0025068	Incomitant strabismus	9935	MAFB	ORPHA:233
HP:0025068	Incomitant strabismus	9935	MAFB	OMIM:617041
HP:0025068	Incomitant strabismus	1123	CHN1	ORPHA:233
HP:0025068	Incomitant strabismus	1123	CHN1	OMIM:604356
HP:0025068	Incomitant strabismus	10059	DNM1L	ORPHA:98673
HP:0025068	Incomitant strabismus	4976	OPA1	ORPHA:98673
HP:0025068	Incomitant strabismus	170302	ARX	OMIM:300215
HP:0025068	Incomitant strabismus	57007	ACKR3	OMIM:619215
HP:0025068	Incomitant strabismus	25885	POLR1A	OMIM:616462
HP:0025068	Incomitant strabismus	80204	FBXO11	OMIM:618089
HP:0025068	Incomitant strabismus	92002	CCNQ	OMIM:300707
HP:0025068	Incomitant strabismus	10054	UBA2	OMIM:619959
HP:0025068	Incomitant strabismus	9969	MED13	OMIM:618009
HP:0025068	Incomitant strabismus	63895	PIEZO2	OMIM:108145
HP:0025068	Incomitant strabismus	79848	CSPP1	ORPHA:397715
HP:0025068	Incomitant strabismus	9786	KIAA0586	ORPHA:397715
HP:0025068	Incomitant strabismus	6299	SALL1	OMIM:107480
HP:0025068	Incomitant strabismus	3198	HOXA1	OMIM:601536
HP:0025068	Incomitant strabismus	4330	MN1	OMIM:618774
HP:0025068	Incomitant strabismus	153241	CEP120	OMIM:617761
HP:0025068	Incomitant strabismus	64221	ROBO3	ORPHA:2744
HP:0025068	Incomitant strabismus	1630	DCC	ORPHA:2744
HP:0025068	Incomitant strabismus	2703	GJA8	OMIM:612474
HP:0025068	Incomitant strabismus	2702	GJA5	OMIM:612474
HP:0025068	Incomitant strabismus	57178	ZMIZ1	OMIM:618659
HP:0025068	Incomitant strabismus	84570	COL25A1	OMIM:616219
HP:0025068	Incomitant strabismus	3781	KCNN2	OMIM:619724
HP:0025068	Incomitant strabismus	26012	NSMF	OMIM:614838
HP:0012789	Hypoplasia of the calcaneus	3930	LBR	OMIM:215140
HP:0012789	Hypoplasia of the calcaneus	10013	HDAC6	OMIM:300863
HP:0012786	Recurrent cystitis	7840	ALMS1	ORPHA:64
HP:0012786	Recurrent cystitis	5184	PEPD	ORPHA:742
HP:0012788	Reticulate pigmentation of oral mucosa	3861	KRT14	OMIM:125595
HP:0007482	Generalized papillary lesions	55806	HR	OMIM:209500
HP:0007483	Depigmentation/hyperpigmentation of skin	207	AKT1	OMIM:176920
HP:0007483	Depigmentation/hyperpigmentation of skin	8239	USP9X	ORPHA:480880
HP:0007483	Depigmentation/hyperpigmentation of skin	3852	KRT5	ORPHA:79396
HP:0007483	Depigmentation/hyperpigmentation of skin	3861	KRT14	ORPHA:79396
HP:0007485	Absence of subcutaneous fat	4000	LMNA	ORPHA:740
HP:0007485	Absence of subcutaneous fat	4000	LMNA	OMIM:176670
HP:0007485	Absence of subcutaneous fat	10269	ZMPSTE24	ORPHA:740
HP:0007485	Absence of subcutaneous fat	857	CAV1	OMIM:606721
HP:0007485	Absence of subcutaneous fat	5295	PIK3R1	OMIM:269880
HP:0007485	Absence of subcutaneous fat	2068	ERCC2	OMIM:601675
HP:0007485	Absence of subcutaneous fat	2068	ERCC2	ORPHA:33364
HP:0007485	Absence of subcutaneous fat	3763	KCNJ6	OMIM:614098
HP:0007485	Absence of subcutaneous fat	5557	PRIM1	OMIM:620005
HP:0007485	Absence of subcutaneous fat	404672	GTF2H5	ORPHA:33364
HP:0007485	Absence of subcutaneous fat	833	CARS1	ORPHA:33364
HP:0007485	Absence of subcutaneous fat	7737	RNF113A	ORPHA:33364
HP:0007485	Absence of subcutaneous fat	136647	MPLKIP	ORPHA:33364
HP:0007485	Absence of subcutaneous fat	6897	TARS1	ORPHA:33364
HP:0007485	Absence of subcutaneous fat	16	AARS1	ORPHA:33364
HP:0007485	Absence of subcutaneous fat	2071	ERCC3	ORPHA:33364
HP:0007485	Absence of subcutaneous fat	2961	GTF2E2	ORPHA:33364
HP:0007485	Absence of subcutaneous fat	2072	ERCC4	OMIM:610965
HP:0007485	Absence of subcutaneous fat	2200	FBN1	OMIM:616914
HP:0007485	Absence of subcutaneous fat	11128	POLR3A	OMIM:264090
HP:0007486	Cavernous hemangioma of the face	157570	ESCO2	OMIM:268300
HP:0007486	Cavernous hemangioma of the face	3417	IDH1	ORPHA:99646
HP:0007509	Patchy hypo- and hyperpigmentation	6611	SMS	ORPHA:3063
HP:0007509	Patchy hypo- and hyperpigmentation	7319	UBE2A	ORPHA:163956
HP:0007509	Patchy hypo- and hyperpigmentation	4000	LMNA	ORPHA:79474
HP:0007488	Diffuse skin atrophy	55612	FERMT1	OMIM:173650
HP:0007488	Diffuse skin atrophy	1493	CTLA4	ORPHA:2584
HP:0007488	Diffuse skin atrophy	940	CD28	ORPHA:2584
HP:0007488	Diffuse skin atrophy	7133	TNFRSF1B	ORPHA:2584
HP:0007488	Diffuse skin atrophy	2934	GSN	ORPHA:85448
HP:0007490	Linear arrays of macular hyperkeratoses in flexural areas	51371	POMP	OMIM:601952
HP:0007490	Linear arrays of macular hyperkeratoses in flexural areas	3868	KRT16	ORPHA:2309
HP:0007490	Linear arrays of macular hyperkeratoses in flexural areas	3872	KRT17	ORPHA:2309
HP:0007490	Linear arrays of macular hyperkeratoses in flexural areas	3853	KRT6A	ORPHA:2309
HP:0007490	Linear arrays of macular hyperkeratoses in flexural areas	3854	KRT6B	ORPHA:2309
HP:0007494	Discrete 2 to 5-mm hyper- and hypopigmented macules	3852	KRT5	OMIM:131960
HP:0025070	Abnormal U wave	859	CAV3	OMIM:611818
HP:0025070	Abnormal U wave	3759	KCNJ2	OMIM:170390
HP:0025070	Abnormal U wave	3759	KCNJ2	ORPHA:37553
HP:0025070	Abnormal U wave	1188	CLCNKB	ORPHA:358
HP:0025070	Abnormal U wave	6559	SLC12A3	ORPHA:358
HP:0025070	Abnormal U wave	3762	KCNJ5	ORPHA:37553
HP:0025072	Prominent U wave	3759	KCNJ2	OMIM:170390
HP:0025072	Prominent U wave	3759	KCNJ2	ORPHA:37553
HP:0025072	Prominent U wave	1188	CLCNKB	ORPHA:358
HP:0025072	Prominent U wave	6559	SLC12A3	ORPHA:358
HP:0025072	Prominent U wave	3762	KCNJ5	ORPHA:37553
HP:0025074	Abnormal QRS complex	79188	TMEM43	OMIM:604400
HP:0025074	Abnormal QRS complex	3728	JUP	OMIM:601214
HP:0025074	Abnormal QRS complex	3728	JUP	OMIM:611528
HP:0025074	Abnormal QRS complex	51422	PRKAG2	OMIM:261740
HP:0025074	Abnormal QRS complex	51422	PRKAG2	OMIM:600858
HP:0025074	Abnormal QRS complex	51422	PRKAG2	OMIM:194200
HP:0025074	Abnormal QRS complex	10265	IRX5	OMIM:611174
HP:0025074	Abnormal QRS complex	2702	GJA5	OMIM:614049
HP:0025074	Abnormal QRS complex	5318	PKP2	OMIM:609040
HP:0025074	Abnormal QRS complex	776	CACNA1D	OMIM:614896
HP:0025074	Abnormal QRS complex	2783	GNB2	OMIM:619464
HP:0025074	Abnormal QRS complex	6840	SVIL	OMIM:619040
HP:0025074	Abnormal QRS complex	3920	LAMP2	OMIM:300257
HP:0025074	Abnormal QRS complex	6288	SAA1	ORPHA:85445
HP:0025075	Increased QRS voltage	6840	SVIL	OMIM:619040
HP:0025075	Increased QRS voltage	3920	LAMP2	OMIM:300257
HP:0025076	Abnormal QRS voltage	6840	SVIL	OMIM:619040
HP:0025076	Abnormal QRS voltage	3920	LAMP2	OMIM:300257
HP:0025076	Abnormal QRS voltage	6288	SAA1	ORPHA:85445
HP:0025077	Decreased QRS voltage	6288	SAA1	ORPHA:85445
HP:0012796	Increased cup-to-disc ratio	2202	EFEMP1	OMIM:611276
HP:0012796	Increased cup-to-disc ratio	2202	EFEMP1	ORPHA:98977
HP:0012796	Increased cup-to-disc ratio	51112	TRAPPC12	ORPHA:500144
HP:0012796	Increased cup-to-disc ratio	1545	CYP1B1	ORPHA:98977
HP:0012796	Increased cup-to-disc ratio	4653	MYOC	ORPHA:98977
HP:0012796	Increased cup-to-disc ratio	7010	TEK	OMIM:617272
HP:0012796	Increased cup-to-disc ratio	1009	CDH11	OMIM:211380
HP:0012796	Increased cup-to-disc ratio	80781	COL18A1	OMIM:618880
HP:0012796	Increased cup-to-disc ratio	136371	ASB10	OMIM:603383
HP:0012797	Lymphatic vessel neoplasm	3458	IFNG	OMIM:613254
HP:0012797	Lymphatic vessel neoplasm	3458	IFNG	ORPHA:805
HP:0012797	Lymphatic vessel neoplasm	7249	TSC2	OMIM:613254
HP:0012797	Lymphatic vessel neoplasm	7249	TSC2	ORPHA:805
HP:0012797	Lymphatic vessel neoplasm	7249	TSC2	ORPHA:538
HP:0012797	Lymphatic vessel neoplasm	7249	TSC2	OMIM:606690
HP:0012797	Lymphatic vessel neoplasm	7248	TSC1	ORPHA:805
HP:0012797	Lymphatic vessel neoplasm	7248	TSC1	OMIM:191100
HP:0012797	Lymphatic vessel neoplasm	7248	TSC1	ORPHA:538
HP:0012797	Lymphatic vessel neoplasm	7248	TSC1	OMIM:606690
HP:0012798	Pulmonary lymphangiomyomatosis	3458	IFNG	OMIM:613254
HP:0012798	Pulmonary lymphangiomyomatosis	3458	IFNG	ORPHA:805
HP:0012798	Pulmonary lymphangiomyomatosis	7249	TSC2	OMIM:613254
HP:0012798	Pulmonary lymphangiomyomatosis	7249	TSC2	ORPHA:805
HP:0012798	Pulmonary lymphangiomyomatosis	7249	TSC2	ORPHA:538
HP:0012798	Pulmonary lymphangiomyomatosis	7249	TSC2	OMIM:606690
HP:0012798	Pulmonary lymphangiomyomatosis	7248	TSC1	ORPHA:805
HP:0012798	Pulmonary lymphangiomyomatosis	7248	TSC1	OMIM:191100
HP:0012798	Pulmonary lymphangiomyomatosis	7248	TSC1	ORPHA:538
HP:0012798	Pulmonary lymphangiomyomatosis	7248	TSC1	OMIM:606690
HP:0012799	Unilateral facial palsy	11198	SUPT16H	OMIM:619480
HP:0012799	Unilateral facial palsy	7516	XRCC2	OMIM:617247
HP:0012799	Unilateral facial palsy	3098	HK1	OMIM:618547
HP:0012793	Kinked brainstem	84162	BLTP1	OMIM:617822
HP:0012793	Kinked brainstem	29954	POMT2	OMIM:236670
HP:0012793	Kinked brainstem	79147	FKRP	OMIM:236670
HP:0012793	Kinked brainstem	2218	FKTN	OMIM:236670
HP:0012793	Kinked brainstem	10585	POMT1	OMIM:236670
HP:0012793	Kinked brainstem	9215	LARGE1	OMIM:236670
HP:0012794	Periventricular white matter hypodensities	2232	FDXR	ORPHA:543470
HP:0012795	Abnormal optic disc morphology	2625	GATA3	OMIM:146255
HP:0012795	Abnormal optic disc morphology	114548	NLRP3	ORPHA:1451
HP:0012795	Abnormal optic disc morphology	9488	PIGB	OMIM:618580
HP:0012795	Abnormal optic disc morphology	778	CACNA1F	OMIM:300476
HP:0012795	Abnormal optic disc morphology	778	CACNA1F	ORPHA:1872
HP:0012795	Abnormal optic disc morphology	26121	PRPF31	OMIM:600138
HP:0012795	Abnormal optic disc morphology	26121	PRPF31	ORPHA:791
HP:0012795	Abnormal optic disc morphology	9131	AIFM1	OMIM:300232
HP:0012795	Abnormal optic disc morphology	23769	FLRT1	ORPHA:320406
HP:0012795	Abnormal optic disc morphology	64837	KLC2	ORPHA:320406
HP:0012795	Abnormal optic disc morphology	64837	KLC2	OMIM:609541
HP:0012795	Abnormal optic disc morphology	92840	REEP6	ORPHA:791
HP:0012795	Abnormal optic disc morphology	6094	ROM1	ORPHA:791
HP:0012795	Abnormal optic disc morphology	6017	RLBP1	ORPHA:791
HP:0012795	Abnormal optic disc morphology	7401	CLRN1	ORPHA:791
HP:0012795	Abnormal optic disc morphology	24	ABCA4	ORPHA:791
HP:0012795	Abnormal optic disc morphology	24	ABCA4	ORPHA:1872
HP:0012795	Abnormal optic disc morphology	24	ABCA4	OMIM:601718
HP:0012795	Abnormal optic disc morphology	24	ABCA4	OMIM:604116
HP:0012795	Abnormal optic disc morphology	130557	ZNF513	ORPHA:791
HP:0012795	Abnormal optic disc morphology	130557	ZNF513	OMIM:613617
HP:0012795	Abnormal optic disc morphology	582	BBS1	ORPHA:791
HP:0012795	Abnormal optic disc morphology	92211	CDHR1	ORPHA:791
HP:0012795	Abnormal optic disc morphology	92211	CDHR1	ORPHA:1872
HP:0012795	Abnormal optic disc morphology	23568	ARL2BP	ORPHA:791
HP:0012795	Abnormal optic disc morphology	23568	ARL2BP	OMIM:615434
HP:0012795	Abnormal optic disc morphology	54806	AHI1	ORPHA:791
HP:0012795	Abnormal optic disc morphology	6101	RP1	ORPHA:791
HP:0012795	Abnormal optic disc morphology	6101	RP1	OMIM:180100
HP:0012795	Abnormal optic disc morphology	3419	IDH3A	ORPHA:791
HP:0012795	Abnormal optic disc morphology	4751	NEK2	ORPHA:791
HP:0012795	Abnormal optic disc morphology	346007	EYS	ORPHA:791
HP:0012795	Abnormal optic disc morphology	346007	EYS	OMIM:602772
HP:0012795	Abnormal optic disc morphology	8100	IFT88	ORPHA:791
HP:0012795	Abnormal optic disc morphology	23020	SNRNP200	ORPHA:791
HP:0012795	Abnormal optic disc morphology	23020	SNRNP200	OMIM:610359
HP:0012795	Abnormal optic disc morphology	762	CA4	ORPHA:791
HP:0012795	Abnormal optic disc morphology	138050	HGSNAT	ORPHA:791
HP:0012795	Abnormal optic disc morphology	138050	HGSNAT	OMIM:616544
HP:0012795	Abnormal optic disc morphology	196	AHR	ORPHA:791
HP:0012795	Abnormal optic disc morphology	123016	TTC8	ORPHA:791
HP:0012795	Abnormal optic disc morphology	6103	RPGR	ORPHA:791
HP:0012795	Abnormal optic disc morphology	6103	RPGR	ORPHA:1872
HP:0012795	Abnormal optic disc morphology	5148	PDE6G	ORPHA:791
HP:0012795	Abnormal optic disc morphology	5148	PDE6G	OMIM:613582
HP:0012795	Abnormal optic disc morphology	26160	IFT172	ORPHA:791
HP:0012795	Abnormal optic disc morphology	26160	IFT172	OMIM:616394
HP:0012795	Abnormal optic disc morphology	583	BBS2	ORPHA:791
HP:0012795	Abnormal optic disc morphology	583	BBS2	OMIM:616562
HP:0012795	Abnormal optic disc morphology	4117	MAK	ORPHA:791
HP:0012795	Abnormal optic disc morphology	4117	MAK	OMIM:614181
HP:0012795	Abnormal optic disc morphology	25794	FSCN2	ORPHA:791
HP:0012795	Abnormal optic disc morphology	375298	CERKL	ORPHA:791
HP:0012795	Abnormal optic disc morphology	375298	CERKL	OMIM:608380
HP:0012795	Abnormal optic disc morphology	3420	IDH3B	ORPHA:791
HP:0012795	Abnormal optic disc morphology	3420	IDH3B	OMIM:612572
HP:0012795	Abnormal optic disc morphology	57670	KIAA1549	ORPHA:791
HP:0012795	Abnormal optic disc morphology	57670	KIAA1549	OMIM:618613
HP:0012795	Abnormal optic disc morphology	7275	TUB	ORPHA:791
HP:0012795	Abnormal optic disc morphology	24148	PRPF6	ORPHA:791
HP:0012795	Abnormal optic disc morphology	24148	PRPF6	OMIM:613983
HP:0012795	Abnormal optic disc morphology	10461	MERTK	ORPHA:791
HP:0012795	Abnormal optic disc morphology	10461	MERTK	OMIM:613862
HP:0012795	Abnormal optic disc morphology	57709	SLC7A14	ORPHA:791
HP:0012795	Abnormal optic disc morphology	768206	PRCD	ORPHA:791
HP:0012795	Abnormal optic disc morphology	768206	PRCD	OMIM:610599
HP:0012795	Abnormal optic disc morphology	7399	USH2A	ORPHA:791
HP:0012795	Abnormal optic disc morphology	23370	ARHGEF18	ORPHA:791
HP:0012795	Abnormal optic disc morphology	23370	ARHGEF18	OMIM:617433
HP:0012795	Abnormal optic disc morphology	5949	RBP3	ORPHA:791
HP:0012795	Abnormal optic disc morphology	5949	RBP3	OMIM:615233
HP:0012795	Abnormal optic disc morphology	6010	RHO	ORPHA:791
HP:0012795	Abnormal optic disc morphology	6100	RP9	ORPHA:791
HP:0012795	Abnormal optic disc morphology	10002	NR2E3	ORPHA:791
HP:0012795	Abnormal optic disc morphology	84140	FAM161A	ORPHA:791
HP:0012795	Abnormal optic disc morphology	84140	FAM161A	OMIM:606068
HP:0012795	Abnormal optic disc morphology	55624	POMGNT1	ORPHA:791
HP:0012795	Abnormal optic disc morphology	403	ARL3	ORPHA:791
HP:0012795	Abnormal optic disc morphology	5145	PDE6A	ORPHA:791
HP:0012795	Abnormal optic disc morphology	5145	PDE6A	OMIM:613810
HP:0012795	Abnormal optic disc morphology	10210	TOPORS	ORPHA:791
HP:0012795	Abnormal optic disc morphology	8842	PROM1	ORPHA:791
HP:0012795	Abnormal optic disc morphology	8842	PROM1	OMIM:612095
HP:0012795	Abnormal optic disc morphology	8842	PROM1	ORPHA:1872
HP:0012795	Abnormal optic disc morphology	9128	PRPF4	ORPHA:791
HP:0012795	Abnormal optic disc morphology	9128	PRPF4	OMIM:615922
HP:0012795	Abnormal optic disc morphology	50939	IMPG2	ORPHA:791
HP:0012795	Abnormal optic disc morphology	50939	IMPG2	OMIM:613581
HP:0012795	Abnormal optic disc morphology	57545	CC2D2A	ORPHA:791
HP:0012795	Abnormal optic disc morphology	8481	OFD1	ORPHA:791
HP:0012795	Abnormal optic disc morphology	49855	SCAPER	ORPHA:791
HP:0012795	Abnormal optic disc morphology	49855	SCAPER	OMIM:618195
HP:0012795	Abnormal optic disc morphology	2979	GUCA1B	ORPHA:791
HP:0012795	Abnormal optic disc morphology	1259	CNGA1	ORPHA:791
HP:0012795	Abnormal optic disc morphology	1259	CNGA1	OMIM:613756
HP:0012795	Abnormal optic disc morphology	1258	CNGB1	ORPHA:791
HP:0012795	Abnormal optic disc morphology	60509	AGBL5	ORPHA:791
HP:0012795	Abnormal optic disc morphology	5961	PRPH2	ORPHA:791
HP:0012795	Abnormal optic disc morphology	5961	PRPH2	ORPHA:1872
HP:0012795	Abnormal optic disc morphology	388939	PCARE	ORPHA:791
HP:0012795	Abnormal optic disc morphology	7439	BEST1	ORPHA:791
HP:0012795	Abnormal optic disc morphology	7439	BEST1	OMIM:613194
HP:0012795	Abnormal optic disc morphology	9785	DHX38	ORPHA:791
HP:0012795	Abnormal optic disc morphology	5995	RGR	ORPHA:791
HP:0012795	Abnormal optic disc morphology	9129	PRPF3	ORPHA:791
HP:0012795	Abnormal optic disc morphology	55975	KLHL7	ORPHA:791
HP:0012795	Abnormal optic disc morphology	3617	IMPG1	ORPHA:791
HP:0012795	Abnormal optic disc morphology	94137	RP1L1	ORPHA:791
HP:0012795	Abnormal optic disc morphology	94137	RP1L1	OMIM:618826
HP:0012795	Abnormal optic disc morphology	5158	PDE6B	ORPHA:791
HP:0012795	Abnormal optic disc morphology	6102	RP2	ORPHA:791
HP:0012795	Abnormal optic disc morphology	55857	KIZ	ORPHA:791
HP:0012795	Abnormal optic disc morphology	64218	SEMA4A	ORPHA:791
HP:0012795	Abnormal optic disc morphology	64218	SEMA4A	ORPHA:1872
HP:0012795	Abnormal optic disc morphology	4901	NRL	ORPHA:791
HP:0012795	Abnormal optic disc morphology	157657	CFAP418	ORPHA:791
HP:0012795	Abnormal optic disc morphology	157657	CFAP418	ORPHA:1872
HP:0012795	Abnormal optic disc morphology	157657	CFAP418	OMIM:614500
HP:0012795	Abnormal optic disc morphology	10594	PRPF8	ORPHA:791
HP:0012795	Abnormal optic disc morphology	84100	ARL6	ORPHA:791
HP:0012795	Abnormal optic disc morphology	6295	SAG	ORPHA:791
HP:0012795	Abnormal optic disc morphology	79947	DHDDS	ORPHA:791
HP:0012795	Abnormal optic disc morphology	54539	NDUFB11	ORPHA:2609
HP:0012795	Abnormal optic disc morphology	25915	NDUFAF3	ORPHA:2609
HP:0012795	Abnormal optic disc morphology	25915	NDUFAF3	OMIM:618240
HP:0012795	Abnormal optic disc morphology	51103	NDUFAF1	ORPHA:2609
HP:0012795	Abnormal optic disc morphology	91942	NDUFAF2	ORPHA:2609
HP:0012795	Abnormal optic disc morphology	51300	TIMMDC1	ORPHA:2609
HP:0012795	Abnormal optic disc morphology	4716	NDUFB10	ORPHA:2609
HP:0012795	Abnormal optic disc morphology	4723	NDUFV1	ORPHA:2609
HP:0012795	Abnormal optic disc morphology	55572	FOXRED1	ORPHA:2609
HP:0012795	Abnormal optic disc morphology	284184	NDUFAF8	ORPHA:2609
HP:0012795	Abnormal optic disc morphology	284184	NDUFAF8	OMIM:618776
HP:0012795	Abnormal optic disc morphology	55863	TMEM126B	ORPHA:2609
HP:0012795	Abnormal optic disc morphology	4535	MT-ND1	ORPHA:2609
HP:0012795	Abnormal optic disc morphology	4537	MT-ND3	ORPHA:2609
HP:0012795	Abnormal optic disc morphology	4729	NDUFV2	ORPHA:2609
HP:0012795	Abnormal optic disc morphology	4694	NDUFA1	ORPHA:2609
HP:0012795	Abnormal optic disc morphology	4720	NDUFS2	ORPHA:2609
HP:0012795	Abnormal optic disc morphology	4720	NDUFS2	OMIM:618228
HP:0012795	Abnormal optic disc morphology	4724	NDUFS4	ORPHA:2609
HP:0012795	Abnormal optic disc morphology	4724	NDUFS4	OMIM:252010
HP:0012795	Abnormal optic disc morphology	4726	NDUFS6	ORPHA:2609
HP:0012795	Abnormal optic disc morphology	4728	NDUFS8	ORPHA:2609
HP:0012795	Abnormal optic disc morphology	4722	NDUFS3	ORPHA:2609
HP:0012795	Abnormal optic disc morphology	4722	NDUFS3	OMIM:618230
HP:0012795	Abnormal optic disc morphology	79133	NDUFAF5	ORPHA:2609
HP:0012795	Abnormal optic disc morphology	126328	NDUFA11	ORPHA:2609
HP:0012795	Abnormal optic disc morphology	4709	NDUFB3	ORPHA:2609
HP:0012795	Abnormal optic disc morphology	80224	NUBPL	ORPHA:2609
HP:0012795	Abnormal optic disc morphology	29078	NDUFAF4	ORPHA:2609
HP:0012795	Abnormal optic disc morphology	374291	NDUFS7	ORPHA:2609
HP:0012795	Abnormal optic disc morphology	4700	NDUFA6	ORPHA:2609
HP:0012795	Abnormal optic disc morphology	4536	MT-ND2	ORPHA:2609
HP:0012795	Abnormal optic disc morphology	4719	NDUFS1	ORPHA:2609
HP:0012795	Abnormal optic disc morphology	4715	NDUFB9	ORPHA:2609
HP:0012795	Abnormal optic disc morphology	50	ACO2	OMIM:616289
HP:0012795	Abnormal optic disc morphology	2895	GRID2	OMIM:616204
HP:0012795	Abnormal optic disc morphology	7167	TPI1	OMIM:615512
HP:0012795	Abnormal optic disc morphology	1161	ERCC8	ORPHA:90324
HP:0012795	Abnormal optic disc morphology	2074	ERCC6	ORPHA:90324
HP:0012795	Abnormal optic disc morphology	4598	MVK	OMIM:260920
HP:0012795	Abnormal optic disc morphology	4598	MVK	OMIM:610377
HP:0012795	Abnormal optic disc morphology	83700	JAM3	OMIM:613730
HP:0012795	Abnormal optic disc morphology	10059	DNM1L	OMIM:614388
HP:0012795	Abnormal optic disc morphology	10059	DNM1L	OMIM:610708
HP:0012795	Abnormal optic disc morphology	8573	CASK	OMIM:300749
HP:0012795	Abnormal optic disc morphology	8573	CASK	ORPHA:163937
HP:0012795	Abnormal optic disc morphology	1593	CYP27A1	OMIM:213700
HP:0012795	Abnormal optic disc morphology	1593	CYP27A1	ORPHA:909
HP:0012795	Abnormal optic disc morphology	123263	MTFMT	OMIM:614947
HP:0012795	Abnormal optic disc morphology	56623	INPP5E	OMIM:213300
HP:0012795	Abnormal optic disc morphology	80207	OPA3	OMIM:165300
HP:0012795	Abnormal optic disc morphology	6687	SPG7	ORPHA:99013
HP:0012795	Abnormal optic disc morphology	91147	TMEM67	OMIM:216360
HP:0012795	Abnormal optic disc morphology	4125	MAN2B1	ORPHA:309282
HP:0012795	Abnormal optic disc morphology	4125	MAN2B1	ORPHA:309288
HP:0012795	Abnormal optic disc morphology	5631	PRPS1	ORPHA:423479
HP:0012795	Abnormal optic disc morphology	10733	PLK4	OMIM:616171
HP:0012795	Abnormal optic disc morphology	256471	MFSD8	OMIM:616170
HP:0012795	Abnormal optic disc morphology	1349	COX7B	OMIM:300887
HP:0012795	Abnormal optic disc morphology	6809	STX3	OMIM:619446
HP:0012795	Abnormal optic disc morphology	83715	ESPN	OMIM:618632
HP:0012795	Abnormal optic disc morphology	8566	PDXK	OMIM:618511
HP:0012795	Abnormal optic disc morphology	89910	UBE3B	OMIM:244450
HP:0012795	Abnormal optic disc morphology	83552	MFRP	OMIM:611040
HP:0012795	Abnormal optic disc morphology	6392	SDHD	OMIM:619167
HP:0012795	Abnormal optic disc morphology	55215	FANCI	OMIM:609053
HP:0012795	Abnormal optic disc morphology	84816	RTN4IP1	OMIM:616732
HP:0012795	Abnormal optic disc morphology	22926	ATF6	ORPHA:1872
HP:0012795	Abnormal optic disc morphology	84839	RAX2	ORPHA:1872
HP:0012795	Abnormal optic disc morphology	84839	RAX2	OMIM:620102
HP:0012795	Abnormal optic disc morphology	1261	CNGA3	ORPHA:1872
HP:0012795	Abnormal optic disc morphology	5956	OPN1LW	ORPHA:1872
HP:0012795	Abnormal optic disc morphology	755	CFAP410	ORPHA:1872
HP:0012795	Abnormal optic disc morphology	8754	ADAM9	ORPHA:1872
HP:0012795	Abnormal optic disc morphology	22999	RIMS1	ORPHA:1872
HP:0012795	Abnormal optic disc morphology	128338	DRAM2	ORPHA:1872
HP:0012795	Abnormal optic disc morphology	2652	OPN1MW	ORPHA:1872
HP:0012795	Abnormal optic disc morphology	9094	UNC119	ORPHA:1872
HP:0012795	Abnormal optic disc morphology	93589	CACNA2D4	ORPHA:1872
HP:0012795	Abnormal optic disc morphology	2978	GUCA1A	ORPHA:1872
HP:0012795	Abnormal optic disc morphology	282809	POC1B	ORPHA:1872
HP:0012795	Abnormal optic disc morphology	282809	POC1B	OMIM:615973
HP:0012795	Abnormal optic disc morphology	83394	PITPNM3	ORPHA:1872
HP:0012795	Abnormal optic disc morphology	23093	TTLL5	ORPHA:1872
HP:0012795	Abnormal optic disc morphology	83723	TLCD3B	ORPHA:1872
HP:0012795	Abnormal optic disc morphology	9364	RAB28	ORPHA:1872
HP:0012795	Abnormal optic disc morphology	5010	CLDN11	OMIM:619328
HP:0012795	Abnormal optic disc morphology	55768	NGLY1	ORPHA:404454
HP:0012795	Abnormal optic disc morphology	5189	PEX1	OMIM:214100
HP:0012795	Abnormal optic disc morphology	9179	AP4M1	OMIM:612936
HP:0012795	Abnormal optic disc morphology	54471	MIEF1	OMIM:620550
HP:0012795	Abnormal optic disc morphology	3105	HLA-A	ORPHA:179
HP:0012795	Abnormal optic disc morphology	4718	NDUFC2	OMIM:619170
HP:0012795	Abnormal optic disc morphology	84340	GFM2	ORPHA:565624
HP:0012795	Abnormal optic disc morphology	8120	AP3B2	OMIM:617276
HP:0012795	Abnormal optic disc morphology	64834	ELOVL1	OMIM:618527
HP:0012795	Abnormal optic disc morphology	9692	PRORP	OMIM:619737
HP:0012795	Abnormal optic disc morphology	51079	NDUFA13	OMIM:618249
HP:0012795	Abnormal optic disc morphology	26504	CNNM4	OMIM:217080
HP:0012795	Abnormal optic disc morphology	23761	PISD	OMIM:618889
HP:0012795	Abnormal optic disc morphology	51102	MECR	OMIM:617282
HP:0012795	Abnormal optic disc morphology	5277	PIGA	OMIM:300868
HP:0012795	Abnormal optic disc morphology	9445	ITM2B	OMIM:616079
HP:0012795	Abnormal optic disc morphology	23327	NEDD4L	OMIM:617201
HP:0012795	Abnormal optic disc morphology	7466	WFS1	OMIM:614296
HP:0012795	Abnormal optic disc morphology	2257	FGF12	OMIM:617166
HP:0012795	Abnormal optic disc morphology	8550	MAPKAPK5	OMIM:619869
HP:0012795	Abnormal optic disc morphology	54664	TMEM106B	OMIM:617964
HP:0012795	Abnormal optic disc morphology	55154	MSTO1	ORPHA:502423
HP:0012795	Abnormal optic disc morphology	9927	MFN2	OMIM:601152
HP:0012795	Abnormal optic disc morphology	9927	MFN2	OMIM:617087
HP:0012795	Abnormal optic disc morphology	7840	ALMS1	ORPHA:64
HP:0012795	Abnormal optic disc morphology	149371	EXOC8	OMIM:619076
HP:0012795	Abnormal optic disc morphology	1861	TOR1A	OMIM:618947
HP:0012795	Abnormal optic disc morphology	3035	HARS1	OMIM:614504
HP:0012795	Abnormal optic disc morphology	90624	LYRM7	OMIM:615838
HP:0012795	Abnormal optic disc morphology	3748	KCNC3	ORPHA:98768
HP:0012795	Abnormal optic disc morphology	4784	NFIX	ORPHA:420179
HP:0012795	Abnormal optic disc morphology	25914	RTTN	ORPHA:468631
HP:0012795	Abnormal optic disc morphology	1859	DYRK1A	ORPHA:464311
HP:0012795	Abnormal optic disc morphology	27349	MCAT	OMIM:620583
HP:0012795	Abnormal optic disc morphology	80781	COL18A1	OMIM:267750
HP:0012795	Abnormal optic disc morphology	30813	VSX1	OMIM:614195
HP:0012795	Abnormal optic disc morphology	1615	DARS1	OMIM:615281
HP:0012795	Abnormal optic disc morphology	55617	TASP1	OMIM:618950
HP:0012795	Abnormal optic disc morphology	3098	HK1	OMIM:617460
HP:0012795	Abnormal optic disc morphology	200894	ARL13B	OMIM:612291
HP:0012795	Abnormal optic disc morphology	388552	BLOC1S3	OMIM:614077
HP:0012795	Abnormal optic disc morphology	56947	MFF	ORPHA:485421
HP:0012795	Abnormal optic disc morphology	56947	MFF	OMIM:617086
HP:0012795	Abnormal optic disc morphology	7025	NR2F1	OMIM:615722
HP:0012795	Abnormal optic disc morphology	25973	PARS2	OMIM:618437
HP:0012795	Abnormal optic disc morphology	3187	HNRNPH1	OMIM:620083
HP:0012795	Abnormal optic disc morphology	3798	KIF5A	OMIM:617235
HP:0012795	Abnormal optic disc morphology	50484	RRM2B	OMIM:268315
HP:0012795	Abnormal optic disc morphology	1186	CLCN7	OMIM:611490
HP:0012795	Abnormal optic disc morphology	112752	IFT43	OMIM:617871
HP:0012795	Abnormal optic disc morphology	2779	GNAT1	OMIM:616389
HP:0012795	Abnormal optic disc morphology	2055	CLN8	ORPHA:1947
HP:0012795	Abnormal optic disc morphology	84233	TMEM126A	OMIM:612989
HP:0012795	Abnormal optic disc morphology	4508	MT-ATP6	ORPHA:644
HP:0012795	Abnormal optic disc morphology	28962	OSTM1	OMIM:259720
HP:0012795	Abnormal optic disc morphology	23155	CLCC1	OMIM:609913
HP:0012795	Abnormal optic disc morphology	116150	NUS1	OMIM:617082
HP:0012795	Abnormal optic disc morphology	9699	RIMS2	OMIM:618970
HP:0012795	Abnormal optic disc morphology	54903	MKS1	OMIM:617121
HP:0012795	Abnormal optic disc morphology	55181	SMG8	OMIM:619268
HP:0012795	Abnormal optic disc morphology	27072	VPS41	OMIM:619389
HP:0012795	Abnormal optic disc morphology	55331	ACER3	OMIM:617762
HP:0012795	Abnormal optic disc morphology	80025	PANK2	ORPHA:216866
HP:0012795	Abnormal optic disc morphology	85378	TUBGCP6	OMIM:251270
HP:0012795	Abnormal optic disc morphology	9181	ARHGEF2	OMIM:617523
HP:0012795	Abnormal optic disc morphology	129880	BBS5	OMIM:615983
HP:0012795	Abnormal optic disc morphology	10939	AFG3L2	OMIM:618977
HP:0012795	Abnormal optic disc morphology	27445	PCLO	OMIM:608027
HP:0012795	Abnormal optic disc morphology	51095	TRNT1	OMIM:616959
HP:0012795	Abnormal optic disc morphology	6310	ATXN1	OMIM:164400
HP:0012795	Abnormal optic disc morphology	3476	IGBP1	OMIM:300472
HP:0012795	Abnormal optic disc morphology	3476	IGBP1	ORPHA:52055
HP:0012795	Abnormal optic disc morphology	5080	PAX6	ORPHA:35737
HP:0012795	Abnormal optic disc morphology	5080	PAX6	OMIM:120430
HP:0012795	Abnormal optic disc morphology	5080	PAX6	OMIM:120200
HP:0012795	Abnormal optic disc morphology	4072	EPCAM	ORPHA:92050
HP:0012795	Abnormal optic disc morphology	105371045	PERCC1	ORPHA:92050
HP:0012795	Abnormal optic disc morphology	54880	BCOR	OMIM:309800
HP:0012795	Abnormal optic disc morphology	54880	BCOR	ORPHA:568
HP:0012795	Abnormal optic disc morphology	8260	NAA10	OMIM:309800
HP:0012795	Abnormal optic disc morphology	8260	NAA10	ORPHA:568
HP:0012795	Abnormal optic disc morphology	54496	PRMT7	OMIM:617157
HP:0012795	Abnormal optic disc morphology	1663	DDX11	OMIM:613398
HP:0012795	Abnormal optic disc morphology	25836	NIPBL	OMIM:122470
HP:0012795	Abnormal optic disc morphology	2301	FOXE3	ORPHA:83461
HP:0012795	Abnormal optic disc morphology	51259	TMEM216	OMIM:608091
HP:0012795	Abnormal optic disc morphology	55733	HHAT	OMIM:600092
HP:0012795	Abnormal optic disc morphology	8085	KMT2D	OMIM:620186
HP:0012795	Abnormal optic disc morphology	5076	PAX2	OMIM:120330
HP:0012795	Abnormal optic disc morphology	5076	PAX2	ORPHA:1475
HP:0012795	Abnormal optic disc morphology	71	ACTG1	ORPHA:2995
HP:0012795	Abnormal optic disc morphology	60	ACTB	ORPHA:2995
HP:0012795	Abnormal optic disc morphology	10653	SPINT2	OMIM:270420
HP:0012795	Abnormal optic disc morphology	8295	TRRAP	OMIM:618454
HP:0012795	Abnormal optic disc morphology	23322	RPGRIP1L	ORPHA:1454
HP:0012795	Abnormal optic disc morphology	6608	SMO	ORPHA:1553
HP:0012795	Abnormal optic disc morphology	83479	DDX59	OMIM:174300
HP:0012795	Abnormal optic disc morphology	57167	SALL4	ORPHA:959
HP:0012795	Abnormal optic disc morphology	7855	FZD5	OMIM:620731
HP:0012795	Abnormal optic disc morphology	26005	C2CD3	OMIM:615948
HP:0012795	Abnormal optic disc morphology	6297	SALL2	OMIM:216820
HP:0012795	Abnormal optic disc morphology	26191	PTPN22	ORPHA:397
HP:0012795	Abnormal optic disc morphology	3106	HLA-B	ORPHA:397
HP:0012795	Abnormal optic disc morphology	3123	HLA-DRB1	ORPHA:397
HP:0012795	Abnormal optic disc morphology	8974	P4HA2	ORPHA:397
HP:0012795	Abnormal optic disc morphology	875	CBS	ORPHA:394
HP:0012795	Abnormal optic disc morphology	2218	FKTN	ORPHA:272
HP:0012795	Abnormal optic disc morphology	2218	FKTN	ORPHA:588
HP:0012795	Abnormal optic disc morphology	2218	FKTN	OMIM:236670
HP:0012795	Abnormal optic disc morphology	2218	FKTN	ORPHA:899
HP:0012795	Abnormal optic disc morphology	2218	FKTN	OMIM:253800
HP:0012795	Abnormal optic disc morphology	4524	MTHFR	ORPHA:395
HP:0012795	Abnormal optic disc morphology	55703	POLR3B	OMIM:614381
HP:0012795	Abnormal optic disc morphology	55703	POLR3B	OMIM:607694
HP:0012795	Abnormal optic disc morphology	10617	STAMBP	OMIM:614261
HP:0012795	Abnormal optic disc morphology	26235	FBXL4	OMIM:615471
HP:0012795	Abnormal optic disc morphology	4099	MAG	OMIM:616680
HP:0012795	Abnormal optic disc morphology	51256	TBC1D7	OMIM:248000
HP:0012795	Abnormal optic disc morphology	1763	DNA2	OMIM:620819
HP:0012795	Abnormal optic disc morphology	55823	VPS11	OMIM:616683
HP:0012795	Abnormal optic disc morphology	55823	VPS11	ORPHA:466934
HP:0012795	Abnormal optic disc morphology	27247	NFU1	OMIM:620938
HP:0012795	Abnormal optic disc morphology	23446	SLC44A1	OMIM:618868
HP:0012795	Abnormal optic disc morphology	8518	ELP1	ORPHA:1764
HP:0012795	Abnormal optic disc morphology	201595	STT3B	OMIM:615597
HP:0012795	Abnormal optic disc morphology	201595	STT3B	ORPHA:370924
HP:0012795	Abnormal optic disc morphology	4897	NRCAM	OMIM:619833
HP:0012795	Abnormal optic disc morphology	2720	GLB1	OMIM:230600
HP:0012795	Abnormal optic disc morphology	84334	COA8	ORPHA:436271
HP:0012795	Abnormal optic disc morphology	1786	DNMT1	ORPHA:314404
HP:0012795	Abnormal optic disc morphology	1786	DNMT1	OMIM:604121
HP:0012795	Abnormal optic disc morphology	84942	WDR73	OMIM:251300
HP:0012795	Abnormal optic disc morphology	84942	WDR73	ORPHA:83472
HP:0012795	Abnormal optic disc morphology	1736	DKC1	OMIM:305000
HP:0012795	Abnormal optic disc morphology	51	ACOX1	ORPHA:2971
HP:0012795	Abnormal optic disc morphology	51	ACOX1	OMIM:264470
HP:0012795	Abnormal optic disc morphology	2072	ERCC4	ORPHA:90321
HP:0012795	Abnormal optic disc morphology	2072	ERCC4	OMIM:610965
HP:0012795	Abnormal optic disc morphology	2072	ERCC4	ORPHA:910
HP:0012795	Abnormal optic disc morphology	2072	ERCC4	ORPHA:220295
HP:0012795	Abnormal optic disc morphology	1729	DIAPH1	ORPHA:477814
HP:0012795	Abnormal optic disc morphology	1729	DIAPH1	OMIM:616632
HP:0012795	Abnormal optic disc morphology	5354	PLP1	ORPHA:99015
HP:0012795	Abnormal optic disc morphology	5354	PLP1	ORPHA:280234
HP:0012795	Abnormal optic disc morphology	5354	PLP1	OMIM:312080
HP:0012795	Abnormal optic disc morphology	5354	PLP1	OMIM:312920
HP:0012795	Abnormal optic disc morphology	57165	GJC2	OMIM:608804
HP:0012795	Abnormal optic disc morphology	4538	MT-ND4	ORPHA:255210
HP:0012795	Abnormal optic disc morphology	4538	MT-ND4	ORPHA:104
HP:0012795	Abnormal optic disc morphology	4538	MT-ND4	OMIM:535000
HP:0012795	Abnormal optic disc morphology	4538	MT-ND4	ORPHA:550
HP:0012795	Abnormal optic disc morphology	4567	MT-TL1	ORPHA:255210
HP:0012795	Abnormal optic disc morphology	4567	MT-TL1	ORPHA:551
HP:0012795	Abnormal optic disc morphology	4567	MT-TL1	ORPHA:550
HP:0012795	Abnormal optic disc morphology	4578	MT-TW	ORPHA:255210
HP:0012795	Abnormal optic disc morphology	4578	MT-TW	ORPHA:550
HP:0012795	Abnormal optic disc morphology	4577	MT-TV	ORPHA:255210
HP:0012795	Abnormal optic disc morphology	4540	MT-ND5	ORPHA:255210
HP:0012795	Abnormal optic disc morphology	4540	MT-ND5	ORPHA:104
HP:0012795	Abnormal optic disc morphology	4540	MT-ND5	OMIM:535000
HP:0012795	Abnormal optic disc morphology	4540	MT-ND5	ORPHA:551
HP:0012795	Abnormal optic disc morphology	4540	MT-ND5	ORPHA:550
HP:0012795	Abnormal optic disc morphology	4541	MT-ND6	ORPHA:255210
HP:0012795	Abnormal optic disc morphology	4541	MT-ND6	ORPHA:104
HP:0012795	Abnormal optic disc morphology	4541	MT-ND6	OMIM:535000
HP:0012795	Abnormal optic disc morphology	4541	MT-ND6	ORPHA:550
HP:0012795	Abnormal optic disc morphology	4566	MT-TK	ORPHA:255210
HP:0012795	Abnormal optic disc morphology	4566	MT-TK	ORPHA:551
HP:0012795	Abnormal optic disc morphology	65993	MRPS34	OMIM:617664
HP:0012795	Abnormal optic disc morphology	6536	SLC6A9	OMIM:617301
HP:0012795	Abnormal optic disc morphology	51741	WWOX	OMIM:616211
HP:0012795	Abnormal optic disc morphology	51741	WWOX	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	51741	WWOX	OMIM:614322
HP:0012795	Abnormal optic disc morphology	200205	IBA57	OMIM:616451
HP:0012795	Abnormal optic disc morphology	200205	IBA57	ORPHA:468661
HP:0012795	Abnormal optic disc morphology	200205	IBA57	OMIM:615330
HP:0012795	Abnormal optic disc morphology	79639	TMEM53	OMIM:619727
HP:0012795	Abnormal optic disc morphology	65082	VPS33A	OMIM:617303
HP:0012795	Abnormal optic disc morphology	65082	VPS33A	ORPHA:505248
HP:0012795	Abnormal optic disc morphology	10730	YME1L1	OMIM:617302
HP:0012795	Abnormal optic disc morphology	3145	HMBS	OMIM:620711
HP:0012795	Abnormal optic disc morphology	51112	TRAPPC12	OMIM:617669
HP:0012795	Abnormal optic disc morphology	51112	TRAPPC12	ORPHA:500144
HP:0012795	Abnormal optic disc morphology	55636	CHD7	ORPHA:138
HP:0012795	Abnormal optic disc morphology	9723	SEMA3E	ORPHA:138
HP:0012795	Abnormal optic disc morphology	50964	SOST	ORPHA:1513
HP:0012795	Abnormal optic disc morphology	50964	SOST	OMIM:122860
HP:0012795	Abnormal optic disc morphology	50964	SOST	ORPHA:3152
HP:0012795	Abnormal optic disc morphology	50964	SOST	OMIM:269500
HP:0012795	Abnormal optic disc morphology	121340	SP7	ORPHA:1513
HP:0012795	Abnormal optic disc morphology	6660	SOX5	ORPHA:313892
HP:0012795	Abnormal optic disc morphology	6660	SOX5	OMIM:616803
HP:0012795	Abnormal optic disc morphology	410	ARSA	ORPHA:309271
HP:0012795	Abnormal optic disc morphology	410	ARSA	ORPHA:309263
HP:0012795	Abnormal optic disc morphology	410	ARSA	OMIM:250100
HP:0012795	Abnormal optic disc morphology	410	ARSA	ORPHA:309256
HP:0012795	Abnormal optic disc morphology	5660	PSAP	ORPHA:309271
HP:0012795	Abnormal optic disc morphology	5660	PSAP	ORPHA:309263
HP:0012795	Abnormal optic disc morphology	5660	PSAP	OMIM:611721
HP:0012795	Abnormal optic disc morphology	5660	PSAP	ORPHA:309256
HP:0012795	Abnormal optic disc morphology	5660	PSAP	ORPHA:206436
HP:0012795	Abnormal optic disc morphology	7345	UCHL1	OMIM:615491
HP:0012795	Abnormal optic disc morphology	7345	UCHL1	OMIM:620221
HP:0012795	Abnormal optic disc morphology	284058	KANSL1	ORPHA:363958
HP:0012795	Abnormal optic disc morphology	284058	KANSL1	ORPHA:363965
HP:0012795	Abnormal optic disc morphology	5105	PCK1	OMIM:261680
HP:0012795	Abnormal optic disc morphology	3423	IDS	ORPHA:217085
HP:0012795	Abnormal optic disc morphology	3423	IDS	ORPHA:217093
HP:0012795	Abnormal optic disc morphology	56172	ANKH	OMIM:123000
HP:0012795	Abnormal optic disc morphology	7994	KAT6A	ORPHA:457193
HP:0012795	Abnormal optic disc morphology	7994	KAT6A	OMIM:616268
HP:0012795	Abnormal optic disc morphology	9326	ZNHIT3	ORPHA:2836
HP:0012795	Abnormal optic disc morphology	9326	ZNHIT3	OMIM:260565
HP:0012795	Abnormal optic disc morphology	55681	SCYL2	OMIM:618766
HP:0012795	Abnormal optic disc morphology	85465	SELENOI	OMIM:618768
HP:0012795	Abnormal optic disc morphology	2697	GJA1	ORPHA:2710
HP:0012795	Abnormal optic disc morphology	2697	GJA1	OMIM:218400
HP:0012795	Abnormal optic disc morphology	157680	VPS13B	OMIM:216550
HP:0012795	Abnormal optic disc morphology	157680	VPS13B	ORPHA:193
HP:0012795	Abnormal optic disc morphology	9401	RECQL4	OMIM:218600
HP:0012795	Abnormal optic disc morphology	55149	MTPAP	ORPHA:254343
HP:0012795	Abnormal optic disc morphology	55149	MTPAP	OMIM:613672
HP:0012795	Abnormal optic disc morphology	171023	ASXL1	ORPHA:97297
HP:0012795	Abnormal optic disc morphology	10484	SEC23A	OMIM:607812
HP:0012795	Abnormal optic disc morphology	10815	CPLX1	ORPHA:280
HP:0012795	Abnormal optic disc morphology	54872	PIGG	ORPHA:280
HP:0012795	Abnormal optic disc morphology	7469	NELFA	ORPHA:280
HP:0012795	Abnormal optic disc morphology	1487	CTBP1	ORPHA:280
HP:0012795	Abnormal optic disc morphology	3954	LETM1	ORPHA:280
HP:0012795	Abnormal optic disc morphology	3954	LETM1	OMIM:620089
HP:0012795	Abnormal optic disc morphology	7468	NSD2	ORPHA:280
HP:0012795	Abnormal optic disc morphology	22872	SEC31A	OMIM:618651
HP:0012795	Abnormal optic disc morphology	83636	C19orf12	OMIM:614298
HP:0012795	Abnormal optic disc morphology	83636	C19orf12	OMIM:615043
HP:0012795	Abnormal optic disc morphology	5833	PCYT2	OMIM:618770
HP:0012795	Abnormal optic disc morphology	388962	BOLA3	OMIM:614299
HP:0012795	Abnormal optic disc morphology	1201	CLN3	OMIM:204200
HP:0012795	Abnormal optic disc morphology	79731	NARS2	OMIM:616239
HP:0012795	Abnormal optic disc morphology	3737	KCNA2	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	1759	DNM1	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	1759	DNM1	OMIM:620352
HP:0012795	Abnormal optic disc morphology	523	ATP6V1A	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	523	ATP6V1A	OMIM:618012
HP:0012795	Abnormal optic disc morphology	10991	SLC38A3	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	51343	FZR1	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	3747	KCNC2	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	1917	EEF1A2	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	23219	FBXO28	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	2561	GABRB2	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	8831	SYNGAP1	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	2558	GABRA5	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	2906	GRIN2D	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	1213	CLTC	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	23334	SZT2	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	348980	HCN1	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	25977	NECAP1	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	23241	PACS2	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	16	AARS1	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	6334	SCN8A	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	9568	GABBR2	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	2555	GABRA2	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	55152	DALRD3	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	26999	CYFIP2	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	4915	NTRK2	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	4915	NTRK2	OMIM:617830
HP:0012795	Abnormal optic disc morphology	23097	CDK19	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	5530	PPP3CA	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	478	ATP1A3	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	478	ATP1A3	OMIM:601338
HP:0012795	Abnormal optic disc morphology	478	ATP1A3	ORPHA:1171
HP:0012795	Abnormal optic disc morphology	22906	TRAK1	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	2566	GABRG2	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	7532	YWHAG	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	79876	UBA5	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	6328	SCN3A	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	781	CACNA2D1	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	10659	CELF2	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	774	CACNA1B	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	51412	ACTL6B	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	2290	FOXG1	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	6506	SLC1A2	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	8867	SYNJ1	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	477	ATP1A2	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	3745	KCNB1	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	284111	SLC13A5	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	22866	CNKSR2	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	773	CACNA1A	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	6323	SCN1A	ORPHA:442835
HP:0012795	Abnormal optic disc morphology	6905	TBCE	OMIM:617207
HP:0012795	Abnormal optic disc morphology	6905	TBCE	ORPHA:496756
HP:0012795	Abnormal optic disc morphology	673	BRAF	ORPHA:54595
HP:0012795	Abnormal optic disc morphology	673	BRAF	ORPHA:1340
HP:0012795	Abnormal optic disc morphology	8241	RBM10	OMIM:311900
HP:0012795	Abnormal optic disc morphology	8241	RBM10	ORPHA:2886
HP:0012795	Abnormal optic disc morphology	1182	CLCN3	OMIM:619512
HP:0012795	Abnormal optic disc morphology	91574	MTRFR	OMIM:615035
HP:0012795	Abnormal optic disc morphology	91574	MTRFR	ORPHA:320375
HP:0012795	Abnormal optic disc morphology	91574	MTRFR	ORPHA:254930
HP:0012795	Abnormal optic disc morphology	91574	MTRFR	OMIM:613559
HP:0012795	Abnormal optic disc morphology	23126	POGZ	OMIM:616364
HP:0012795	Abnormal optic disc morphology	23126	POGZ	ORPHA:468678
HP:0012795	Abnormal optic disc morphology	27125	AFF4	OMIM:616368
HP:0012795	Abnormal optic disc morphology	92609	TIMM50	OMIM:617698
HP:0012795	Abnormal optic disc morphology	92609	TIMM50	ORPHA:505216
HP:0012795	Abnormal optic disc morphology	51692	CPSF3	OMIM:619876
HP:0012795	Abnormal optic disc morphology	150468	CKAP2L	OMIM:272440
HP:0012795	Abnormal optic disc morphology	150468	CKAP2L	ORPHA:3255
HP:0012795	Abnormal optic disc morphology	5590	PRKCZ	ORPHA:1606
HP:0012795	Abnormal optic disc morphology	2563	GABRD	ORPHA:1606
HP:0012795	Abnormal optic disc morphology	23013	SPEN	ORPHA:1606
HP:0012795	Abnormal optic disc morphology	8510	MMP23B	ORPHA:1606
HP:0012795	Abnormal optic disc morphology	7798	LUZP1	ORPHA:1606
HP:0012795	Abnormal optic disc morphology	6497	SKI	ORPHA:1606
HP:0012795	Abnormal optic disc morphology	10630	PDPN	ORPHA:1606
HP:0012795	Abnormal optic disc morphology	3339	HSPG2	ORPHA:1606
HP:0012795	Abnormal optic disc morphology	10277	UBE4B	ORPHA:1606
HP:0012795	Abnormal optic disc morphology	8514	KCNAB2	ORPHA:1606
HP:0012795	Abnormal optic disc morphology	473	RERE	ORPHA:1606
HP:0012795	Abnormal optic disc morphology	473	RERE	ORPHA:494344
HP:0012795	Abnormal optic disc morphology	473	RERE	OMIM:616975
HP:0012795	Abnormal optic disc morphology	63976	PRDM16	ORPHA:1606
HP:0012795	Abnormal optic disc morphology	54897	CASZ1	ORPHA:1606
HP:0012795	Abnormal optic disc morphology	84277	DNAJC30	ORPHA:104
HP:0012795	Abnormal optic disc morphology	4512	MT-CO1	ORPHA:104
HP:0012795	Abnormal optic disc morphology	4512	MT-CO1	ORPHA:550
HP:0012795	Abnormal optic disc morphology	4514	MT-CO3	ORPHA:104
HP:0012795	Abnormal optic disc morphology	4514	MT-CO3	OMIM:535000
HP:0012795	Abnormal optic disc morphology	4514	MT-CO3	ORPHA:550
HP:0012795	Abnormal optic disc morphology	4519	MT-CYB	ORPHA:104
HP:0012795	Abnormal optic disc morphology	4519	MT-CYB	OMIM:535000
HP:0012795	Abnormal optic disc morphology	4519	MT-CYB	ORPHA:137675
HP:0012795	Abnormal optic disc morphology	4539	MT-ND4L	ORPHA:104
HP:0012795	Abnormal optic disc morphology	4539	MT-ND4L	OMIM:535000
HP:0012795	Abnormal optic disc morphology	148789	B3GALNT2	ORPHA:588
HP:0012795	Abnormal optic disc morphology	148789	B3GALNT2	ORPHA:899
HP:0012795	Abnormal optic disc morphology	29925	GMPPB	ORPHA:588
HP:0012795	Abnormal optic disc morphology	29925	GMPPB	ORPHA:370959
HP:0012795	Abnormal optic disc morphology	79147	FKRP	ORPHA:588
HP:0012795	Abnormal optic disc morphology	79147	FKRP	OMIM:236670
HP:0012795	Abnormal optic disc morphology	79147	FKRP	ORPHA:899
HP:0012795	Abnormal optic disc morphology	79147	FKRP	ORPHA:370959
HP:0012795	Abnormal optic disc morphology	9215	LARGE1	ORPHA:588
HP:0012795	Abnormal optic disc morphology	9215	LARGE1	OMIM:236670
HP:0012795	Abnormal optic disc morphology	9215	LARGE1	ORPHA:899
HP:0012795	Abnormal optic disc morphology	9215	LARGE1	OMIM:613154
HP:0012795	Abnormal optic disc morphology	29954	POMT2	ORPHA:588
HP:0012795	Abnormal optic disc morphology	29954	POMT2	OMIM:236670
HP:0012795	Abnormal optic disc morphology	29954	POMT2	ORPHA:899
HP:0012795	Abnormal optic disc morphology	29954	POMT2	ORPHA:370959
HP:0012795	Abnormal optic disc morphology	729920	CRPPA	ORPHA:588
HP:0012795	Abnormal optic disc morphology	729920	CRPPA	ORPHA:899
HP:0012795	Abnormal optic disc morphology	10585	POMT1	ORPHA:588
HP:0012795	Abnormal optic disc morphology	10585	POMT1	OMIM:236670
HP:0012795	Abnormal optic disc morphology	10585	POMT1	ORPHA:899
HP:0012795	Abnormal optic disc morphology	10585	POMT1	ORPHA:370959
HP:0012795	Abnormal optic disc morphology	285362	SUMF1	ORPHA:585
HP:0012795	Abnormal optic disc morphology	55210	ATAD3A	ORPHA:496790
HP:0012795	Abnormal optic disc morphology	55210	ATAD3A	OMIM:617183
HP:0012795	Abnormal optic disc morphology	4644	MYO5A	ORPHA:33445
HP:0012795	Abnormal optic disc morphology	8818	DPM2	OMIM:615042
HP:0012795	Abnormal optic disc morphology	8818	DPM2	ORPHA:329178
HP:0012795	Abnormal optic disc morphology	122961	ISCA2	OMIM:616370
HP:0012795	Abnormal optic disc morphology	8733	GPAA1	ORPHA:529665
HP:0012795	Abnormal optic disc morphology	8733	GPAA1	OMIM:617810
HP:0012795	Abnormal optic disc morphology	2232	FDXR	ORPHA:543470
HP:0012795	Abnormal optic disc morphology	2232	FDXR	OMIM:617717
HP:0012795	Abnormal optic disc morphology	4849	CNOT3	OMIM:618672
HP:0012795	Abnormal optic disc morphology	4982	TNFRSF11B	ORPHA:2801
HP:0012795	Abnormal optic disc morphology	8792	TNFRSF11A	ORPHA:2801
HP:0012795	Abnormal optic disc morphology	8792	TNFRSF11A	OMIM:612301
HP:0012795	Abnormal optic disc morphology	8792	TNFRSF11A	ORPHA:1782
HP:0012795	Abnormal optic disc morphology	2263	FGFR2	OMIM:123790
HP:0012795	Abnormal optic disc morphology	2263	FGFR2	ORPHA:794
HP:0012795	Abnormal optic disc morphology	2263	FGFR2	OMIM:123500
HP:0012795	Abnormal optic disc morphology	2263	FGFR2	ORPHA:207
HP:0012795	Abnormal optic disc morphology	2263	FGFR2	ORPHA:87
HP:0012795	Abnormal optic disc morphology	2263	FGFR2	ORPHA:1555
HP:0012795	Abnormal optic disc morphology	9562	MINPP1	OMIM:619527
HP:0012795	Abnormal optic disc morphology	9562	MINPP1	ORPHA:284339
HP:0012795	Abnormal optic disc morphology	7841	MOGS	ORPHA:79330
HP:0012795	Abnormal optic disc morphology	7841	MOGS	OMIM:606056
HP:0012795	Abnormal optic disc morphology	56652	TWNK	OMIM:271245
HP:0012795	Abnormal optic disc morphology	56652	TWNK	ORPHA:1186
HP:0012795	Abnormal optic disc morphology	2271	FH	OMIM:606812
HP:0012795	Abnormal optic disc morphology	5981	RFC1	ORPHA:504476
HP:0012795	Abnormal optic disc morphology	197258	FCSK	OMIM:618324
HP:0012795	Abnormal optic disc morphology	2395	FXN	OMIM:229300
HP:0012795	Abnormal optic disc morphology	2395	FXN	ORPHA:95
HP:0012795	Abnormal optic disc morphology	10463	SLC30A9	OMIM:617595
HP:0012795	Abnormal optic disc morphology	125988	MICOS13	OMIM:618329
HP:0012795	Abnormal optic disc morphology	84168	ANTXR1	OMIM:230740
HP:0012795	Abnormal optic disc morphology	84168	ANTXR1	ORPHA:2067
HP:0012795	Abnormal optic disc morphology	9725	TMEM63A	OMIM:618688
HP:0012795	Abnormal optic disc morphology	8813	DPM1	ORPHA:79322
HP:0012795	Abnormal optic disc morphology	8813	DPM1	OMIM:608799
HP:0012795	Abnormal optic disc morphology	9526	MPDU1	ORPHA:79323
HP:0012795	Abnormal optic disc morphology	9526	MPDU1	OMIM:609180
HP:0012795	Abnormal optic disc morphology	79053	ALG8	ORPHA:79325
HP:0012795	Abnormal optic disc morphology	57192	MCOLN1	OMIM:252650
HP:0012795	Abnormal optic disc morphology	1967	EIF2B1	OMIM:603896
HP:0012795	Abnormal optic disc morphology	10195	ALG3	OMIM:601110
HP:0012795	Abnormal optic disc morphology	10533	ATG7	OMIM:619422
HP:0012795	Abnormal optic disc morphology	91137	SLC25A46	OMIM:619303
HP:0012795	Abnormal optic disc morphology	91137	SLC25A46	ORPHA:2254
HP:0012795	Abnormal optic disc morphology	91137	SLC25A46	OMIM:616505
HP:0012795	Abnormal optic disc morphology	58497	PRUNE1	OMIM:617481
HP:0012795	Abnormal optic disc morphology	58497	PRUNE1	ORPHA:544469
HP:0012795	Abnormal optic disc morphology	133686	NADK2	OMIM:616034
HP:0012795	Abnormal optic disc morphology	55656	INTS8	OMIM:618572
HP:0012795	Abnormal optic disc morphology	11232	POLG2	OMIM:619425
HP:0012795	Abnormal optic disc morphology	835	CASP2	OMIM:620653
HP:0012795	Abnormal optic disc morphology	8905	AP1S2	OMIM:304340
HP:0012795	Abnormal optic disc morphology	9900	SV2A	OMIM:620772
HP:0012795	Abnormal optic disc morphology	4594	MMUT	ORPHA:79312
HP:0012795	Abnormal optic disc morphology	4594	MMUT	ORPHA:289916
HP:0012795	Abnormal optic disc morphology	7291	TWIST1	ORPHA:794
HP:0012795	Abnormal optic disc morphology	2261	FGFR3	ORPHA:794
HP:0012795	Abnormal optic disc morphology	2261	FGFR3	ORPHA:93262
HP:0012795	Abnormal optic disc morphology	4558	MT-TF	ORPHA:551
HP:0012795	Abnormal optic disc morphology	4558	MT-TF	ORPHA:550
HP:0012795	Abnormal optic disc morphology	4549	MT-RNR1	ORPHA:551
HP:0012795	Abnormal optic disc morphology	4574	MT-TS1	ORPHA:551
HP:0012795	Abnormal optic disc morphology	4574	MT-TS1	ORPHA:550
HP:0012795	Abnormal optic disc morphology	4574	MT-TS1	OMIM:220110
HP:0012795	Abnormal optic disc morphology	4575	MT-TS2	ORPHA:551
HP:0012795	Abnormal optic disc morphology	4575	MT-TS2	ORPHA:550
HP:0012795	Abnormal optic disc morphology	4571	MT-TP	ORPHA:551
HP:0012795	Abnormal optic disc morphology	4572	MT-TQ	ORPHA:551
HP:0012795	Abnormal optic disc morphology	4572	MT-TQ	ORPHA:550
HP:0012795	Abnormal optic disc morphology	4564	MT-TH	ORPHA:551
HP:0012795	Abnormal optic disc morphology	4564	MT-TH	ORPHA:550
HP:0012795	Abnormal optic disc morphology	3912	LAMB1	OMIM:615191
HP:0012795	Abnormal optic disc morphology	3912	LAMB1	ORPHA:352682
HP:0012795	Abnormal optic disc morphology	4513	MT-CO2	ORPHA:550
HP:0012795	Abnormal optic disc morphology	10785	WDR4	OMIM:618346
HP:0012795	Abnormal optic disc morphology	160418	TMTC3	OMIM:617255
HP:0012795	Abnormal optic disc morphology	51728	POLR3K	OMIM:619310
HP:0012795	Abnormal optic disc morphology	54973	INTS11	OMIM:620428
HP:0012795	Abnormal optic disc morphology	2767	GNA11	ORPHA:428
HP:0012795	Abnormal optic disc morphology	846	CASR	ORPHA:428
HP:0012795	Abnormal optic disc morphology	23345	SYNE1	OMIM:610743
HP:0012795	Abnormal optic disc morphology	5428	POLG	OMIM:258450
HP:0012795	Abnormal optic disc morphology	5428	POLG	ORPHA:254881
HP:0012795	Abnormal optic disc morphology	5428	POLG	ORPHA:254886
HP:0012795	Abnormal optic disc morphology	11267	SNF8	OMIM:620784
HP:0012795	Abnormal optic disc morphology	10102	TSFM	OMIM:610505
HP:0012795	Abnormal optic disc morphology	128869	PIGU	OMIM:618590
HP:0012795	Abnormal optic disc morphology	29887	SNX10	OMIM:615085
HP:0012795	Abnormal optic disc morphology	7084	TK2	ORPHA:254886
HP:0012795	Abnormal optic disc morphology	81790	RNF170	OMIM:619686
HP:0012795	Abnormal optic disc morphology	23102	TBC1D2B	OMIM:619323
HP:0012795	Abnormal optic disc morphology	1436	CSF1R	OMIM:618476
HP:0012795	Abnormal optic disc morphology	26610	ELP4	OMIM:617141
HP:0012795	Abnormal optic disc morphology	79868	ALG13	OMIM:300884
HP:0012795	Abnormal optic disc morphology	6651	SON	OMIM:617140
HP:0012795	Abnormal optic disc morphology	6651	SON	ORPHA:500150
HP:0012795	Abnormal optic disc morphology	10978	CLP1	ORPHA:411493
HP:0012795	Abnormal optic disc morphology	9342	SNAP29	ORPHA:66631
HP:0012795	Abnormal optic disc morphology	8882	ZPR1	OMIM:619321
HP:0012795	Abnormal optic disc morphology	8890	EIF2B4	OMIM:620314
HP:0012795	Abnormal optic disc morphology	7248	TSC1	ORPHA:538
HP:0012795	Abnormal optic disc morphology	7249	TSC2	ORPHA:538
HP:0012795	Abnormal optic disc morphology	11152	WDR45	ORPHA:329284
HP:0012795	Abnormal optic disc morphology	25885	POLR1A	OMIM:620675
HP:0012795	Abnormal optic disc morphology	8892	EIF2B2	OMIM:620312
HP:0012795	Abnormal optic disc morphology	443	ASPA	ORPHA:314911
HP:0012795	Abnormal optic disc morphology	443	ASPA	OMIM:271900
HP:0012795	Abnormal optic disc morphology	154881	KCTD7	OMIM:611726
HP:0012795	Abnormal optic disc morphology	154881	KCTD7	ORPHA:263516
HP:0012795	Abnormal optic disc morphology	84892	POMGNT2	ORPHA:899
HP:0012795	Abnormal optic disc morphology	1282	COL4A1	ORPHA:899
HP:0012795	Abnormal optic disc morphology	10329	RXYLT1	ORPHA:899
HP:0012795	Abnormal optic disc morphology	1605	DAG1	ORPHA:899
HP:0012795	Abnormal optic disc morphology	11041	B4GAT1	ORPHA:899
HP:0012795	Abnormal optic disc morphology	84197	POMK	ORPHA:899
HP:0012795	Abnormal optic disc morphology	84197	POMK	ORPHA:370959
HP:0012795	Abnormal optic disc morphology	79944	L2HGDH	OMIM:236792
HP:0012795	Abnormal optic disc morphology	8869	ST3GAL5	OMIM:609056
HP:0012795	Abnormal optic disc morphology	6904	TBCD	ORPHA:496641
HP:0012795	Abnormal optic disc morphology	6904	TBCD	OMIM:617193
HP:0012795	Abnormal optic disc morphology	4976	OPA1	ORPHA:98673
HP:0012795	Abnormal optic disc morphology	4976	OPA1	OMIM:165500
HP:0012795	Abnormal optic disc morphology	4976	OPA1	OMIM:210000
HP:0012795	Abnormal optic disc morphology	4976	OPA1	OMIM:125250
HP:0012795	Abnormal optic disc morphology	4976	OPA1	ORPHA:1215
HP:0012795	Abnormal optic disc morphology	4976	OPA1	OMIM:616896
HP:0012795	Abnormal optic disc morphology	5934	RBL2	OMIM:619690
HP:0012795	Abnormal optic disc morphology	56915	EXOSC5	OMIM:619576
HP:0012795	Abnormal optic disc morphology	22930	RAB3GAP1	OMIM:600118
HP:0012795	Abnormal optic disc morphology	22930	RAB3GAP1	ORPHA:2510
HP:0012795	Abnormal optic disc morphology	2077	ERF	ORPHA:207
HP:0012795	Abnormal optic disc morphology	549	AUH	OMIM:250950
HP:0012795	Abnormal optic disc morphology	1312	COMT	ORPHA:567
HP:0012795	Abnormal optic disc morphology	221037	JMJD1C	ORPHA:567
HP:0012795	Abnormal optic disc morphology	2812	GP1BB	ORPHA:567
HP:0012795	Abnormal optic disc morphology	6239	RREB1	ORPHA:567
HP:0012795	Abnormal optic disc morphology	6899	TBX1	ORPHA:567
HP:0012795	Abnormal optic disc morphology	7290	HIRA	ORPHA:567
HP:0012795	Abnormal optic disc morphology	9632	SEC24C	ORPHA:567
HP:0012795	Abnormal optic disc morphology	7353	UFD1	ORPHA:567
HP:0012795	Abnormal optic disc morphology	421	ARVCF	ORPHA:567
HP:0012795	Abnormal optic disc morphology	2717	GLA	ORPHA:324
HP:0012795	Abnormal optic disc morphology	84314	TMEM107	ORPHA:564
HP:0012795	Abnormal optic disc morphology	26123	TCTN3	ORPHA:564
HP:0012795	Abnormal optic disc morphology	79867	TCTN2	ORPHA:564
HP:0012795	Abnormal optic disc morphology	80776	B9D2	ORPHA:564
HP:0012795	Abnormal optic disc morphology	79600	TCTN1	ORPHA:564
HP:0012795	Abnormal optic disc morphology	79583	TMEM231	ORPHA:564
HP:0012795	Abnormal optic disc morphology	79770	TXNDC15	ORPHA:564
HP:0012795	Abnormal optic disc morphology	27077	B9D1	ORPHA:564
HP:0012795	Abnormal optic disc morphology	65062	TMEM237	ORPHA:564
HP:0012795	Abnormal optic disc morphology	65062	TMEM237	OMIM:614424
HP:0012795	Abnormal optic disc morphology	112812	FDX2	OMIM:251900
HP:0012795	Abnormal optic disc morphology	23258	DENND5A	OMIM:617281
HP:0012795	Abnormal optic disc morphology	27316	RBMX	OMIM:309555
HP:0012795	Abnormal optic disc morphology	9758	FRMPD4	OMIM:300983
HP:0012795	Abnormal optic disc morphology	54681	P4HTM	OMIM:618493
HP:0012795	Abnormal optic disc morphology	2071	ERCC3	OMIM:610651
HP:0012795	Abnormal optic disc morphology	2071	ERCC3	ORPHA:910
HP:0012795	Abnormal optic disc morphology	2071	ERCC3	ORPHA:220295
HP:0012795	Abnormal optic disc morphology	5573	PRKAR1A	OMIM:101800
HP:0012795	Abnormal optic disc morphology	64374	SIL1	ORPHA:559
HP:0012795	Abnormal optic disc morphology	60386	SLC25A19	ORPHA:99742
HP:0012795	Abnormal optic disc morphology	60386	SLC25A19	OMIM:607196
HP:0012795	Abnormal optic disc morphology	79736	TEFM	OMIM:620451
HP:0012795	Abnormal optic disc morphology	28982	FLVCR1	OMIM:609033
HP:0012795	Abnormal optic disc morphology	3028	HSD17B10	ORPHA:391428
HP:0012795	Abnormal optic disc morphology	3028	HSD17B10	OMIM:300438
HP:0012795	Abnormal optic disc morphology	84065	TMEM222	OMIM:619470
HP:0012795	Abnormal optic disc morphology	29926	GMPPA	ORPHA:869
HP:0012795	Abnormal optic disc morphology	60684	TRAPPC11	ORPHA:869
HP:0012795	Abnormal optic disc morphology	8086	AAAS	ORPHA:869
HP:0012795	Abnormal optic disc morphology	8086	AAAS	OMIM:231550
HP:0012795	Abnormal optic disc morphology	526	ATP6V1B2	ORPHA:79500
HP:0012795	Abnormal optic disc morphology	57465	TBC1D24	ORPHA:79500
HP:0012795	Abnormal optic disc morphology	57465	TBC1D24	ORPHA:352596
HP:0012795	Abnormal optic disc morphology	57465	TBC1D24	OMIM:220500
HP:0012795	Abnormal optic disc morphology	57465	TBC1D24	OMIM:615338
HP:0012795	Abnormal optic disc morphology	136647	MPLKIP	OMIM:234050
HP:0012795	Abnormal optic disc morphology	493856	CISD2	OMIM:604928
HP:0012795	Abnormal optic disc morphology	493856	CISD2	ORPHA:3463
HP:0012795	Abnormal optic disc morphology	22978	NT5C2	ORPHA:320396
HP:0012795	Abnormal optic disc morphology	22978	NT5C2	OMIM:613162
HP:0012795	Abnormal optic disc morphology	100147744	RNU7-1	OMIM:619487
HP:0012795	Abnormal optic disc morphology	51715	RAB23	OMIM:201000
HP:0012795	Abnormal optic disc morphology	79152	FA2H	ORPHA:171629
HP:0012795	Abnormal optic disc morphology	79152	FA2H	ORPHA:329308
HP:0012795	Abnormal optic disc morphology	79152	FA2H	OMIM:612319
HP:0012795	Abnormal optic disc morphology	9373	PLAA	ORPHA:521426
HP:0012795	Abnormal optic disc morphology	9373	PLAA	OMIM:617527
HP:0012795	Abnormal optic disc morphology	23516	SLC39A14	OMIM:144755
HP:0012795	Abnormal optic disc morphology	55670	PEX26	ORPHA:772
HP:0012795	Abnormal optic disc morphology	55670	PEX26	ORPHA:44
HP:0012795	Abnormal optic disc morphology	55670	PEX26	ORPHA:912
HP:0012795	Abnormal optic disc morphology	5824	PEX19	ORPHA:772
HP:0012795	Abnormal optic disc morphology	5824	PEX19	ORPHA:44
HP:0012795	Abnormal optic disc morphology	5824	PEX19	ORPHA:912
HP:0012795	Abnormal optic disc morphology	5828	PEX2	ORPHA:772
HP:0012795	Abnormal optic disc morphology	5828	PEX2	OMIM:614866
HP:0012795	Abnormal optic disc morphology	5828	PEX2	ORPHA:44
HP:0012795	Abnormal optic disc morphology	5828	PEX2	ORPHA:912
HP:0012795	Abnormal optic disc morphology	8504	PEX3	ORPHA:772
HP:0012795	Abnormal optic disc morphology	8504	PEX3	ORPHA:44
HP:0012795	Abnormal optic disc morphology	8504	PEX3	ORPHA:912
HP:0012795	Abnormal optic disc morphology	9409	PEX16	ORPHA:772
HP:0012795	Abnormal optic disc morphology	9409	PEX16	OMIM:614877
HP:0012795	Abnormal optic disc morphology	9409	PEX16	ORPHA:44
HP:0012795	Abnormal optic disc morphology	9409	PEX16	ORPHA:912
HP:0012795	Abnormal optic disc morphology	5190	PEX6	ORPHA:772
HP:0012795	Abnormal optic disc morphology	5190	PEX6	ORPHA:95433
HP:0012795	Abnormal optic disc morphology	5190	PEX6	OMIM:614863
HP:0012795	Abnormal optic disc morphology	5190	PEX6	ORPHA:44
HP:0012795	Abnormal optic disc morphology	5190	PEX6	ORPHA:912
HP:0012795	Abnormal optic disc morphology	8799	PEX11B	ORPHA:772
HP:0012795	Abnormal optic disc morphology	8799	PEX11B	ORPHA:44
HP:0012795	Abnormal optic disc morphology	8799	PEX11B	ORPHA:912
HP:0012795	Abnormal optic disc morphology	5830	PEX5	ORPHA:772
HP:0012795	Abnormal optic disc morphology	5830	PEX5	ORPHA:44
HP:0012795	Abnormal optic disc morphology	5830	PEX5	ORPHA:912
HP:0012795	Abnormal optic disc morphology	5193	PEX12	ORPHA:772
HP:0012795	Abnormal optic disc morphology	5193	PEX12	ORPHA:44
HP:0012795	Abnormal optic disc morphology	5193	PEX12	ORPHA:912
HP:0012795	Abnormal optic disc morphology	5194	PEX13	ORPHA:772
HP:0012795	Abnormal optic disc morphology	5194	PEX13	ORPHA:44
HP:0012795	Abnormal optic disc morphology	5194	PEX13	ORPHA:912
HP:0012795	Abnormal optic disc morphology	5195	PEX14	ORPHA:772
HP:0012795	Abnormal optic disc morphology	5195	PEX14	ORPHA:44
HP:0012795	Abnormal optic disc morphology	5195	PEX14	ORPHA:912
HP:0012795	Abnormal optic disc morphology	5192	PEX10	ORPHA:772
HP:0012795	Abnormal optic disc morphology	5192	PEX10	ORPHA:44
HP:0012795	Abnormal optic disc morphology	5192	PEX10	ORPHA:912
HP:0012795	Abnormal optic disc morphology	23636	NUP62	ORPHA:225154
HP:0012795	Abnormal optic disc morphology	23636	NUP62	OMIM:271930
HP:0012795	Abnormal optic disc morphology	53371	NUP54	ORPHA:225154
HP:0012795	Abnormal optic disc morphology	103	ADAR	ORPHA:225154
HP:0012795	Abnormal optic disc morphology	6389	SDHA	OMIM:619259
HP:0012795	Abnormal optic disc morphology	6389	SDHA	OMIM:252011
HP:0012795	Abnormal optic disc morphology	84231	TRAF7	OMIM:618164
HP:0012795	Abnormal optic disc morphology	4668	NAGA	OMIM:609241
HP:0012795	Abnormal optic disc morphology	4668	NAGA	ORPHA:79279
HP:0012795	Abnormal optic disc morphology	131118	DNAJC19	ORPHA:66634
HP:0012795	Abnormal optic disc morphology	131118	DNAJC19	OMIM:610198
HP:0012795	Abnormal optic disc morphology	51594	NBAS	OMIM:614800
HP:0012795	Abnormal optic disc morphology	11043	MID2	OMIM:300928
HP:0012795	Abnormal optic disc morphology	2581	GALC	ORPHA:206436
HP:0012795	Abnormal optic disc morphology	2581	GALC	OMIM:245200
HP:0012795	Abnormal optic disc morphology	9897	WASHC5	ORPHA:7
HP:0012795	Abnormal optic disc morphology	28952	CCDC22	ORPHA:7
HP:0012795	Abnormal optic disc morphology	57020	VPS35L	ORPHA:7
HP:0012795	Abnormal optic disc morphology	56896	DPYSL5	ORPHA:7
HP:0012795	Abnormal optic disc morphology	1678	TIMM8A	ORPHA:52368
HP:0012795	Abnormal optic disc morphology	79644	SRD5A3	ORPHA:324737
HP:0012795	Abnormal optic disc morphology	79644	SRD5A3	OMIM:612379
HP:0012795	Abnormal optic disc morphology	129285	PPP1R21	OMIM:619383
HP:0012795	Abnormal optic disc morphology	114034	TOE1	ORPHA:284339
HP:0012795	Abnormal optic disc morphology	114034	TOE1	OMIM:614969
HP:0012795	Abnormal optic disc morphology	4038	LRP4	ORPHA:3152
HP:0012795	Abnormal optic disc morphology	1496	CTNNA2	OMIM:618174
HP:0012795	Abnormal optic disc morphology	8517	IKBKG	OMIM:308300
HP:0012795	Abnormal optic disc morphology	1462	VCAN	OMIM:143200
HP:0012795	Abnormal optic disc morphology	8398	PLA2G6	OMIM:610217
HP:0012795	Abnormal optic disc morphology	8398	PLA2G6	ORPHA:35069
HP:0012795	Abnormal optic disc morphology	8398	PLA2G6	OMIM:256600
HP:0012795	Abnormal optic disc morphology	10134	BCAP31	OMIM:300475
HP:0012795	Abnormal optic disc morphology	10134	BCAP31	ORPHA:369939
HP:0012795	Abnormal optic disc morphology	4570	MT-TN	OMIM:220110
HP:0012795	Abnormal optic disc morphology	6834	SURF1	OMIM:220110
HP:0012795	Abnormal optic disc morphology	10312	TCIRG1	OMIM:259700
HP:0012795	Abnormal optic disc morphology	10312	TCIRG1	ORPHA:1782
HP:0012795	Abnormal optic disc morphology	25821	MTO1	OMIM:614702
HP:0012795	Abnormal optic disc morphology	145173	B3GLCT	ORPHA:709
HP:0012795	Abnormal optic disc morphology	2896	GRN	OMIM:614706
HP:0012795	Abnormal optic disc morphology	4758	NEU1	ORPHA:93399
HP:0012795	Abnormal optic disc morphology	4758	NEU1	ORPHA:93400
HP:0012795	Abnormal optic disc morphology	79581	SLC52A2	OMIM:614707
HP:0012795	Abnormal optic disc morphology	51218	GLRX5	ORPHA:401866
HP:0012795	Abnormal optic disc morphology	51218	GLRX5	OMIM:616859
HP:0012795	Abnormal optic disc morphology	374654	KIF7	OMIM:200990
HP:0012795	Abnormal optic disc morphology	170302	ARX	OMIM:300004
HP:0012795	Abnormal optic disc morphology	100996717	NOTCH2NLC	ORPHA:2289
HP:0012795	Abnormal optic disc morphology	9640	ZNF592	ORPHA:83472
HP:0012795	Abnormal optic disc morphology	1717	DHCR7	ORPHA:818
HP:0012795	Abnormal optic disc morphology	5290	PIK3CA	ORPHA:99802
HP:0012795	Abnormal optic disc morphology	5290	PIK3CA	ORPHA:60040
HP:0012795	Abnormal optic disc morphology	2475	MTOR	ORPHA:99802
HP:0012795	Abnormal optic disc morphology	10000	AKT3	ORPHA:99802
HP:0012795	Abnormal optic disc morphology	271	AMPD2	OMIM:615809
HP:0012795	Abnormal optic disc morphology	51204	TACO1	OMIM:619052
HP:0012795	Abnormal optic disc morphology	4509	MT-ATP8	ORPHA:254913
HP:0012795	Abnormal optic disc morphology	514	ATP5F1E	ORPHA:254913
HP:0012795	Abnormal optic disc morphology	513	ATP5F1D	ORPHA:254913
HP:0012795	Abnormal optic disc morphology	498	ATP5F1A	ORPHA:254913
HP:0012795	Abnormal optic disc morphology	84833	ATP5MK	ORPHA:254913
HP:0012795	Abnormal optic disc morphology	91647	ATPAF2	ORPHA:254913
HP:0012795	Abnormal optic disc morphology	55037	PTCD3	OMIM:619057
HP:0012795	Abnormal optic disc morphology	1757	SARDH	ORPHA:3129
HP:0012795	Abnormal optic disc morphology	1716	DGUOK	ORPHA:329314
HP:0012795	Abnormal optic disc morphology	55157	DARS2	ORPHA:137898
HP:0012795	Abnormal optic disc morphology	686	BTD	OMIM:253260
HP:0012795	Abnormal optic disc morphology	686	BTD	ORPHA:79241
HP:0012795	Abnormal optic disc morphology	546	ATRX	ORPHA:847
HP:0012795	Abnormal optic disc morphology	546	ATRX	OMIM:309580
HP:0012795	Abnormal optic disc morphology	10367	MICU1	ORPHA:401768
HP:0012795	Abnormal optic disc morphology	10367	MICU1	OMIM:615673
HP:0012795	Abnormal optic disc morphology	9839	ZEB2	ORPHA:261552
HP:0012795	Abnormal optic disc morphology	54476	RNF216	ORPHA:1173
HP:0012795	Abnormal optic disc morphology	10908	PNPLA6	ORPHA:1173
HP:0012795	Abnormal optic disc morphology	26090	ABHD12	OMIM:612674
HP:0012795	Abnormal optic disc morphology	10382	TUBB4A	OMIM:612438
HP:0012795	Abnormal optic disc morphology	84947	SERAC1	OMIM:614739
HP:0012795	Abnormal optic disc morphology	1798	DPAGT1	ORPHA:86309
HP:0012795	Abnormal optic disc morphology	23347	SMCHD1	ORPHA:2250
HP:0012795	Abnormal optic disc morphology	11340	EXOSC8	ORPHA:2254
HP:0012795	Abnormal optic disc morphology	5393	EXOSC9	ORPHA:2254
HP:0012795	Abnormal optic disc morphology	23287	AGTPBP1	ORPHA:2254
HP:0012795	Abnormal optic disc morphology	51010	EXOSC3	ORPHA:2254
HP:0012795	Abnormal optic disc morphology	7443	VRK1	ORPHA:2254
HP:0012795	Abnormal optic disc morphology	11128	POLR3A	ORPHA:447896
HP:0012795	Abnormal optic disc morphology	11128	POLR3A	ORPHA:3455
HP:0012795	Abnormal optic disc morphology	11128	POLR3A	OMIM:607694
HP:0012795	Abnormal optic disc morphology	8050	PDHX	OMIM:245349
HP:0012795	Abnormal optic disc morphology	4256	MGP	ORPHA:85202
HP:0012795	Abnormal optic disc morphology	63895	PIEZO2	ORPHA:1154
HP:0012795	Abnormal optic disc morphology	25828	TXN2	OMIM:616811
HP:0012795	Abnormal optic disc morphology	471	ATIC	OMIM:608688
HP:0012795	Abnormal optic disc morphology	6742	SSBP1	OMIM:165510
HP:0012795	Abnormal optic disc morphology	23065	EMC1	ORPHA:480898
HP:0012795	Abnormal optic disc morphology	23065	EMC1	OMIM:616875
HP:0012795	Abnormal optic disc morphology	55275	VPS53	OMIM:615851
HP:0012795	Abnormal optic disc morphology	50628	GEMIN4	OMIM:617913
HP:0012795	Abnormal optic disc morphology	283989	TSEN54	OMIM:277470
HP:0012795	Abnormal optic disc morphology	81846	SBF2	ORPHA:99956
HP:0012795	Abnormal optic disc morphology	2776	GNAQ	ORPHA:3205
HP:0012795	Abnormal optic disc morphology	92154	MTSS2	OMIM:620086
HP:0012795	Abnormal optic disc morphology	23590	PDSS1	OMIM:614651
HP:0012795	Abnormal optic disc morphology	79628	SH3TC2	ORPHA:99949
HP:0012795	Abnormal optic disc morphology	57724	EPG5	ORPHA:1493
HP:0012795	Abnormal optic disc morphology	8216	LZTR1	OMIM:605275
HP:0012795	Abnormal optic disc morphology	9230	RAB11B	OMIM:617807
HP:0012795	Abnormal optic disc morphology	90417	KNSTRN	OMIM:613328
HP:0012795	Abnormal optic disc morphology	5293	PIK3CD	OMIM:613328
HP:0012795	Abnormal optic disc morphology	2068	ERCC2	ORPHA:910
HP:0012795	Abnormal optic disc morphology	2068	ERCC2	ORPHA:1466
HP:0012795	Abnormal optic disc morphology	2068	ERCC2	ORPHA:220295
HP:0012795	Abnormal optic disc morphology	7507	XPA	ORPHA:910
HP:0012795	Abnormal optic disc morphology	7508	XPC	ORPHA:910
HP:0012795	Abnormal optic disc morphology	1643	DDB2	ORPHA:910
HP:0012795	Abnormal optic disc morphology	2073	ERCC5	ORPHA:910
HP:0012795	Abnormal optic disc morphology	2073	ERCC5	ORPHA:1466
HP:0012795	Abnormal optic disc morphology	2073	ERCC5	ORPHA:220295
HP:0012795	Abnormal optic disc morphology	8600	TNFSF11	OMIM:259710
HP:0012795	Abnormal optic disc morphology	10075	HUWE1	OMIM:309590
HP:0012795	Abnormal optic disc morphology	53616	ADAM22	OMIM:617933
HP:0012795	Abnormal optic disc morphology	7473	WNT3	ORPHA:3301
HP:0012795	Abnormal optic disc morphology	340419	RSPO2	ORPHA:3301
HP:0012795	Abnormal optic disc morphology	9496	TBX4	ORPHA:3301
HP:0012795	Abnormal optic disc morphology	1806	DPYD	OMIM:274270
HP:0012795	Abnormal optic disc morphology	998	CDC42	OMIM:616737
HP:0012795	Abnormal optic disc morphology	998	CDC42	ORPHA:487796
HP:0012795	Abnormal optic disc morphology	10413	YAP1	ORPHA:1473
HP:0012795	Abnormal optic disc morphology	10560	SLC19A2	ORPHA:49827
HP:0012795	Abnormal optic disc morphology	10560	SLC19A2	OMIM:249270
HP:0012795	Abnormal optic disc morphology	6314	ATXN7	OMIM:164500
HP:0012795	Abnormal optic disc morphology	10342	TFG	ORPHA:431329
HP:0012795	Abnormal optic disc morphology	10342	TFG	OMIM:615658
HP:0012795	Abnormal optic disc morphology	9512	PMPCB	OMIM:617954
HP:0012795	Abnormal optic disc morphology	2067	ERCC1	ORPHA:1466
HP:0012795	Abnormal optic disc morphology	10352	WARS2	OMIM:617710
HP:0012795	Abnormal optic disc morphology	2058	EPRS1	OMIM:617951
HP:0012795	Abnormal optic disc morphology	54974	THG1L	OMIM:618800
HP:0012795	Abnormal optic disc morphology	5604	MAP2K1	ORPHA:1340
HP:0012795	Abnormal optic disc morphology	5605	MAP2K2	ORPHA:1340
HP:0012795	Abnormal optic disc morphology	3845	KRAS	ORPHA:1340
HP:0012795	Abnormal optic disc morphology	259232	NALCN	OMIM:615419
HP:0012795	Abnormal optic disc morphology	128989	TANGO2	ORPHA:480864
HP:0012795	Abnormal optic disc morphology	128989	TANGO2	OMIM:616878
HP:0012795	Abnormal optic disc morphology	64093	SMOC1	ORPHA:1106
HP:0012795	Abnormal optic disc morphology	9420	CYP7B1	OMIM:270800
HP:0012795	Abnormal optic disc morphology	4007	PRICKLE3	OMIM:308905
HP:0012795	Abnormal optic disc morphology	57511	COG6	OMIM:614576
HP:0012795	Abnormal optic disc morphology	128637	TBC1D20	OMIM:615663
HP:0012795	Abnormal optic disc morphology	128637	TBC1D20	ORPHA:2510
HP:0012795	Abnormal optic disc morphology	57572	DOCK6	OMIM:614219
HP:0012795	Abnormal optic disc morphology	760	CA2	ORPHA:2785
HP:0012795	Abnormal optic disc morphology	64840	PORCN	OMIM:305600
HP:0012795	Abnormal optic disc morphology	6197	RPS6KA3	ORPHA:192
HP:0012795	Abnormal optic disc morphology	51501	HIKESHI	OMIM:616881
HP:0012795	Abnormal optic disc morphology	25782	RAB3GAP2	OMIM:614225
HP:0012795	Abnormal optic disc morphology	25782	RAB3GAP2	ORPHA:2510
HP:0012795	Abnormal optic disc morphology	22931	RAB18	OMIM:614222
HP:0012795	Abnormal optic disc morphology	22931	RAB18	ORPHA:2510
HP:0012795	Abnormal optic disc morphology	189	AGXT	OMIM:259900
HP:0012795	Abnormal optic disc morphology	22934	RPIA	OMIM:608611
HP:0012795	Abnormal optic disc morphology	7040	TGFB1	ORPHA:1328
HP:0012795	Abnormal optic disc morphology	6452	SH3BP2	ORPHA:184
HP:0012795	Abnormal optic disc morphology	51124	IER3IP1	OMIM:614231
HP:0012795	Abnormal optic disc morphology	51816	ADA2	OMIM:615688
HP:0012795	Abnormal optic disc morphology	3832	KIF11	ORPHA:2526
HP:0012795	Abnormal optic disc morphology	3832	KIF11	OMIM:152950
HP:0012795	Abnormal optic disc morphology	55704	CCDC88A	OMIM:617507
HP:0012795	Abnormal optic disc morphology	54676	GTPBP2	OMIM:617988
HP:0012795	Abnormal optic disc morphology	5456	POU3F4	ORPHA:1435
HP:0012795	Abnormal optic disc morphology	5538	PPT1	OMIM:256730
HP:0012795	Abnormal optic disc morphology	387	RHOA	OMIM:618727
HP:0012795	Abnormal optic disc morphology	55315	SLC29A3	ORPHA:1782
HP:0012795	Abnormal optic disc morphology	8777	MPDZ	OMIM:615219
HP:0012795	Abnormal optic disc morphology	25974	MMACHC	ORPHA:79282
HP:0012795	Abnormal optic disc morphology	27229	TUBGCP4	ORPHA:2518
HP:0012795	Abnormal optic disc morphology	57410	SCYL1	ORPHA:466794
HP:0012795	Abnormal optic disc morphology	7543	ZFX	OMIM:301118
HP:0012795	Abnormal optic disc morphology	35	ACADS	ORPHA:26792
HP:0012795	Abnormal optic disc morphology	80169	CTC1	OMIM:612199
HP:0012795	Abnormal optic disc morphology	10844	TUBGCP2	OMIM:618737
HP:0012795	Abnormal optic disc morphology	547	KIF1A	OMIM:614255
HP:0012795	Abnormal optic disc morphology	221927	BRAT1	OMIM:614498
HP:0012795	Abnormal optic disc morphology	55753	OGDHL	OMIM:619701
HP:0012795	Abnormal optic disc morphology	5297	PI4KA	OMIM:619708
HP:0012795	Abnormal optic disc morphology	7428	VHL	ORPHA:892
HP:0012795	Abnormal optic disc morphology	595	CCND1	ORPHA:892
HP:0012795	Abnormal optic disc morphology	2629	GBA1	ORPHA:2072
HP:0012795	Abnormal optic disc morphology	3590	IL11RA	OMIM:614188
HP:0012795	Abnormal optic disc morphology	7157	TP53	OMIM:260500
HP:0012795	Abnormal optic disc morphology	324	APC	ORPHA:99818
HP:0012795	Abnormal optic disc morphology	8314	BAP1	ORPHA:2495
HP:0012795	Abnormal optic disc morphology	4771	NF2	ORPHA:2495
HP:0012795	Abnormal optic disc morphology	6598	SMARCB1	ORPHA:2495
HP:0012795	Abnormal optic disc morphology	5155	PDGFB	ORPHA:2495
HP:0012795	Abnormal optic disc morphology	207	AKT1	ORPHA:2495
HP:0012795	Abnormal optic disc morphology	7015	TERT	ORPHA:2495
HP:0012795	Abnormal optic disc morphology	51684	SUFU	ORPHA:2495
HP:0012795	Abnormal optic disc morphology	6605	SMARCE1	ORPHA:2495
HP:0012795	Abnormal optic disc morphology	63901	FAM111A	OMIM:127000
HP:0012795	Abnormal optic disc morphology	63901	FAM111A	ORPHA:93325
HP:0012795	Abnormal optic disc morphology	6522	SLC4A2	OMIM:620366
HP:0012795	Abnormal optic disc morphology	2260	FGFR1	ORPHA:3366
HP:0012795	Abnormal optic disc morphology	158326	FREM1	ORPHA:3366
HP:0012795	Abnormal optic disc morphology	4313	MMP2	ORPHA:371428
HP:0012795	Abnormal optic disc morphology	4323	MMP14	ORPHA:371428
HP:0012795	Abnormal optic disc morphology	7386	UQCRFS1	OMIM:618775
HP:0012795	Abnormal optic disc morphology	9842	PLEKHM1	ORPHA:210110
HP:0012795	Abnormal optic disc morphology	26022	TMEM98	OMIM:615972
HP:0012795	Abnormal optic disc morphology	64131	XYLT1	OMIM:264800
HP:0012795	Abnormal optic disc morphology	64132	XYLT2	OMIM:264800
HP:0012795	Abnormal optic disc morphology	368	ABCC6	OMIM:264800
HP:0012795	Abnormal optic disc morphology	344658	SAMD7	OMIM:620762
HP:0012795	Abnormal optic disc morphology	79848	CSPP1	ORPHA:397715
HP:0012795	Abnormal optic disc morphology	9786	KIAA0586	ORPHA:397715
HP:0012795	Abnormal optic disc morphology	22827	PUF60	ORPHA:508498
HP:0012795	Abnormal optic disc morphology	3769	KCNJ13	ORPHA:65
HP:0012795	Abnormal optic disc morphology	343035	RD3	ORPHA:65
HP:0012795	Abnormal optic disc morphology	145226	RDH12	ORPHA:65
HP:0012795	Abnormal optic disc morphology	1406	CRX	ORPHA:65
HP:0012795	Abnormal optic disc morphology	64802	NMNAT1	ORPHA:65
HP:0012795	Abnormal optic disc morphology	57096	RPGRIP1	ORPHA:65
HP:0012795	Abnormal optic disc morphology	80184	CEP290	ORPHA:65
HP:0012795	Abnormal optic disc morphology	10383	TUBB4B	ORPHA:65
HP:0012795	Abnormal optic disc morphology	9742	IFT140	ORPHA:65
HP:0012795	Abnormal optic disc morphology	85015	USP45	ORPHA:65
HP:0012795	Abnormal optic disc morphology	6121	RPE65	ORPHA:65
HP:0012795	Abnormal optic disc morphology	23418	CRB1	ORPHA:65
HP:0012795	Abnormal optic disc morphology	5130	PCYT1A	ORPHA:65
HP:0012795	Abnormal optic disc morphology	9657	IQCB1	ORPHA:65
HP:0012795	Abnormal optic disc morphology	392255	GDF6	ORPHA:65
HP:0012795	Abnormal optic disc morphology	23746	AIPL1	ORPHA:65
HP:0012795	Abnormal optic disc morphology	3000	GUCY2D	ORPHA:65
HP:0012795	Abnormal optic disc morphology	9227	LRAT	ORPHA:65
HP:0012795	Abnormal optic disc morphology	55812	SPATA7	ORPHA:65
HP:0012795	Abnormal optic disc morphology	7287	TULP1	ORPHA:65
HP:0012795	Abnormal optic disc morphology	167691	LCA5	ORPHA:65
HP:0012795	Abnormal optic disc morphology	3614	IMPDH1	ORPHA:65
HP:0012795	Abnormal optic disc morphology	4693	NDP	ORPHA:891
HP:0012795	Abnormal optic disc morphology	1499	CTNNB1	ORPHA:891
HP:0012795	Abnormal optic disc morphology	23554	TSPAN12	ORPHA:891
HP:0012795	Abnormal optic disc morphology	4041	LRP5	ORPHA:891
HP:0012795	Abnormal optic disc morphology	79797	ZNF408	ORPHA:891
HP:0012795	Abnormal optic disc morphology	8322	FZD4	ORPHA:891
HP:0012795	Abnormal optic disc morphology	22856	CHSY1	ORPHA:363417
HP:0012795	Abnormal optic disc morphology	2202	EFEMP1	OMIM:611276
HP:0012795	Abnormal optic disc morphology	2202	EFEMP1	ORPHA:98977
HP:0012795	Abnormal optic disc morphology	1545	CYP1B1	ORPHA:98977
HP:0012795	Abnormal optic disc morphology	4653	MYOC	ORPHA:98977
HP:0012795	Abnormal optic disc morphology	7010	TEK	OMIM:617272
HP:0012795	Abnormal optic disc morphology	1009	CDH11	OMIM:211380
HP:0012795	Abnormal optic disc morphology	136371	ASB10	OMIM:603383
HP:0012795	Abnormal optic disc morphology	126792	B3GALT6	ORPHA:536467
HP:0012795	Abnormal optic disc morphology	114902	C1QTNF5	ORPHA:67042
HP:0012795	Abnormal optic disc morphology	4327	MMP19	OMIM:611543
HP:0012791	Abnormal humeral ossification	2317	FLNB	ORPHA:56305
HP:0012791	Abnormal humeral ossification	54808	DYM	OMIM:223800
HP:0007495	Prematurely aged appearance	128178	EDARADD	OMIM:224900
HP:0007495	Prematurely aged appearance	128178	EDARADD	OMIM:614941
HP:0007495	Prematurely aged appearance	10913	EDAR	OMIM:224900
HP:0007495	Prematurely aged appearance	1009	CDH11	ORPHA:1299
HP:0007495	Prematurely aged appearance	1896	EDA	OMIM:305100
HP:0007495	Prematurely aged appearance	83932	SPRTN	OMIM:616200
HP:0007495	Prematurely aged appearance	7015	TERT	OMIM:614742
HP:0007495	Prematurely aged appearance	7015	TERT	OMIM:127550
HP:0007495	Prematurely aged appearance	7015	TERT	OMIM:613989
HP:0007495	Prematurely aged appearance	7015	TERT	ORPHA:3322
HP:0007495	Prematurely aged appearance	7015	TERT	ORPHA:1775
HP:0007495	Prematurely aged appearance	7012	TERC	OMIM:614743
HP:0007495	Prematurely aged appearance	7012	TERC	OMIM:127550
HP:0007495	Prematurely aged appearance	7012	TERC	ORPHA:1775
HP:0007495	Prematurely aged appearance	1736	DKC1	OMIM:305000
HP:0007495	Prematurely aged appearance	1736	DKC1	ORPHA:3322
HP:0007495	Prematurely aged appearance	1736	DKC1	ORPHA:1775
HP:0007495	Prematurely aged appearance	9401	RECQL4	OMIM:268400
HP:0007495	Prematurely aged appearance	4644	MYO5A	ORPHA:33445
HP:0007495	Prematurely aged appearance	4644	MYO5A	ORPHA:79476
HP:0007495	Prematurely aged appearance	79991	STN1	OMIM:617341
HP:0007495	Prematurely aged appearance	374879	ZNF699	OMIM:619488
HP:0007495	Prematurely aged appearance	5073	PARN	OMIM:616371
HP:0007495	Prematurely aged appearance	5073	PARN	ORPHA:3322
HP:0007495	Prematurely aged appearance	5073	PARN	ORPHA:1775
HP:0007495	Prematurely aged appearance	4286	MITF	OMIM:193510
HP:0007495	Prematurely aged appearance	4286	MITF	ORPHA:897
HP:0007495	Prematurely aged appearance	4286	MITF	ORPHA:895
HP:0007495	Prematurely aged appearance	6663	SOX10	OMIM:613266
HP:0007495	Prematurely aged appearance	6663	SOX10	ORPHA:897
HP:0007495	Prematurely aged appearance	6663	SOX10	ORPHA:895
HP:0007495	Prematurely aged appearance	6663	SOX10	ORPHA:163746
HP:0007495	Prematurely aged appearance	6663	SOX10	OMIM:611584
HP:0007495	Prematurely aged appearance	1908	EDN3	OMIM:613265
HP:0007495	Prematurely aged appearance	1908	EDN3	ORPHA:897
HP:0007495	Prematurely aged appearance	6117	RPA1	OMIM:619767
HP:0007495	Prematurely aged appearance	1910	EDNRB	OMIM:277580
HP:0007495	Prematurely aged appearance	1910	EDNRB	ORPHA:897
HP:0007495	Prematurely aged appearance	1910	EDNRB	ORPHA:895
HP:0007495	Prematurely aged appearance	26277	TINF2	OMIM:127550
HP:0007495	Prematurely aged appearance	26277	TINF2	OMIM:613990
HP:0007495	Prematurely aged appearance	26277	TINF2	ORPHA:3322
HP:0007495	Prematurely aged appearance	26277	TINF2	ORPHA:1775
HP:0007495	Prematurely aged appearance	51085	MLXIPL	OMIM:194050
HP:0007495	Prematurely aged appearance	7299	TYR	ORPHA:895
HP:0007495	Prematurely aged appearance	6591	SNAI2	ORPHA:895
HP:0007495	Prematurely aged appearance	4254	KITLG	ORPHA:895
HP:0007495	Prematurely aged appearance	4254	KITLG	OMIM:619947
HP:0007495	Prematurely aged appearance	5077	PAX3	ORPHA:894
HP:0007495	Prematurely aged appearance	5077	PAX3	OMIM:193500
HP:0007495	Prematurely aged appearance	5077	PAX3	OMIM:148820
HP:0007495	Prematurely aged appearance	4193	MDM2	OMIM:618681
HP:0007495	Prematurely aged appearance	9675	TTI1	OMIM:620445
HP:0007495	Prematurely aged appearance	79184	BRCC3	ORPHA:280679
HP:0007495	Prematurely aged appearance	3643	INSR	ORPHA:769
HP:0007495	Prematurely aged appearance	25913	POT1	OMIM:620367
HP:0007495	Prematurely aged appearance	51750	RTEL1	ORPHA:3322
HP:0007495	Prematurely aged appearance	51750	RTEL1	ORPHA:1775
HP:0007495	Prematurely aged appearance	65057	ACD	ORPHA:3322
HP:0007495	Prematurely aged appearance	92345	NAF1	OMIM:620365
HP:0007495	Prematurely aged appearance	7020	TFAP2A	OMIM:113620
HP:0007495	Prematurely aged appearance	7020	TFAP2A	ORPHA:1297
HP:0007495	Prematurely aged appearance	4507	MTAP	OMIM:112250
HP:0007495	Prematurely aged appearance	80169	CTC1	OMIM:612199
HP:0007495	Prematurely aged appearance	80169	CTC1	ORPHA:1775
HP:0007495	Prematurely aged appearance	55651	NHP2	ORPHA:1775
HP:0007495	Prematurely aged appearance	79650	USB1	ORPHA:1775
HP:0007495	Prematurely aged appearance	55135	WRAP53	ORPHA:1775
HP:0007495	Prematurely aged appearance	4869	NPM1	ORPHA:1775
HP:0007495	Prematurely aged appearance	55505	NOP10	ORPHA:1775
HP:0007495	Prematurely aged appearance	7298	TYMS	ORPHA:1775
HP:0007495	Prematurely aged appearance	355	FAS	ORPHA:3437
HP:0007495	Prematurely aged appearance	26191	PTPN22	ORPHA:3437
HP:0007495	Prematurely aged appearance	8884	SLC5A6	OMIM:619903
HP:0007495	Prematurely aged appearance	5696	PSMB8	OMIM:256040
HP:0007495	Prematurely aged appearance	91039	DPP9	OMIM:620331
HP:0007495	Prematurely aged appearance	5873	RAB27A	ORPHA:79477
HP:0007495	Prematurely aged appearance	25778	DSTYK	OMIM:270750
HP:0007495	Prematurely aged appearance	11285	B4GALT7	ORPHA:75496
HP:0007495	Prematurely aged appearance	10804	GJB6	ORPHA:477
HP:0007495	Prematurely aged appearance	2706	GJB2	ORPHA:477
HP:0007495	Prematurely aged appearance	3763	KCNJ6	ORPHA:435628
HP:0007495	Prematurely aged appearance	3763	KCNJ6	OMIM:614098
HP:0007495	Prematurely aged appearance	8425	LTBP4	OMIM:613177
HP:0007495	Prematurely aged appearance	10273	STUB1	ORPHA:412057
HP:0007495	Prematurely aged appearance	8815	BANF1	OMIM:614008
HP:0007495	Prematurely aged appearance	84823	LMNB2	ORPHA:79087
HP:0007495	Prematurely aged appearance	5111	PCNA	OMIM:615919
HP:0007495	Prematurely aged appearance	2067	ERCC1	ORPHA:90322
HP:0007495	Prematurely aged appearance	5965	RECQL	OMIM:620370
HP:0007495	Prematurely aged appearance	25839	COG4	OMIM:618150
HP:0007495	Prematurely aged appearance	857	CAV1	OMIM:606721
HP:0007495	Prematurely aged appearance	10651	MTX2	OMIM:619127
HP:0007495	Prematurely aged appearance	23404	EXOSC2	OMIM:617763
HP:0007495	Prematurely aged appearance	23545	ATP6V0A2	OMIM:278250
HP:0007495	Prematurely aged appearance	2200	FBN1	OMIM:616914
HP:0007495	Prematurely aged appearance	91949	COG7	OMIM:608779
HP:0007495	Prematurely aged appearance	91949	COG7	ORPHA:79333
HP:0007495	Prematurely aged appearance	5351	PLOD1	OMIM:225400
HP:0007495	Prematurely aged appearance	523	ATP6V1A	ORPHA:357074
HP:0007495	Prematurely aged appearance	529	ATP6V1E1	ORPHA:357074
HP:0007495	Prematurely aged appearance	2261	FGFR3	ORPHA:1860
HP:0007495	Prematurely aged appearance	5604	MAP2K1	ORPHA:1340
HP:0007495	Prematurely aged appearance	5605	MAP2K2	ORPHA:1340
HP:0007495	Prematurely aged appearance	3845	KRAS	ORPHA:1340
HP:0007495	Prematurely aged appearance	673	BRAF	ORPHA:1340
HP:0007495	Prematurely aged appearance	673	BRAF	ORPHA:500
HP:0007495	Prematurely aged appearance	5167	ENPP1	ORPHA:758
HP:0007495	Prematurely aged appearance	368	ABCC6	ORPHA:758
HP:0007495	Prematurely aged appearance	9719	ADAMTSL2	ORPHA:1901
HP:0007495	Prematurely aged appearance	9509	ADAMTS2	ORPHA:1901
HP:0007495	Prematurely aged appearance	5781	PTPN11	ORPHA:500
HP:0007495	Prematurely aged appearance	5894	RAF1	ORPHA:500
HP:0007495	Prematurely aged appearance	5728	PTEN	ORPHA:137608
HP:0007495	Prematurely aged appearance	1080	CFTR	ORPHA:498359
HP:0007495	Prematurely aged appearance	2074	ERCC6	OMIM:133540
HP:0007495	Prematurely aged appearance	8367	H4C5	OMIM:619950
HP:0007495	Prematurely aged appearance	165	AEBP1	OMIM:618000
HP:0007495	Prematurely aged appearance	8260	NAA10	OMIM:300855
HP:0007495	Prematurely aged appearance	1593	CYP27A1	ORPHA:909
HP:0007495	Prematurely aged appearance	9791	PTDSS1	ORPHA:2658
HP:0007495	Prematurely aged appearance	29957	SLC25A24	OMIM:612289
HP:0007495	Prematurely aged appearance	29957	SLC25A24	ORPHA:2963
HP:0007495	Prematurely aged appearance	22930	RAB3GAP1	ORPHA:1387
HP:0007495	Prematurely aged appearance	25782	RAB3GAP2	ORPHA:1387
HP:0007495	Prematurely aged appearance	2006	ELN	ORPHA:90348
HP:0007495	Prematurely aged appearance	2006	ELN	ORPHA:904
HP:0007495	Prematurely aged appearance	2006	ELN	OMIM:123700
HP:0007495	Prematurely aged appearance	10516	FBLN5	ORPHA:90348
HP:0007495	Prematurely aged appearance	5832	ALDH18A1	ORPHA:90348
HP:0007495	Prematurely aged appearance	6804	STX1A	ORPHA:904
HP:0007495	Prematurely aged appearance	7461	CLIP2	ORPHA:904
HP:0007495	Prematurely aged appearance	84277	DNAJC30	ORPHA:904
HP:0007495	Prematurely aged appearance	8468	FKBP6	ORPHA:904
HP:0007495	Prematurely aged appearance	5982	RFC2	ORPHA:904
HP:0007495	Prematurely aged appearance	2969	GTF2I	ORPHA:904
HP:0007495	Prematurely aged appearance	3984	LIMK1	ORPHA:904
HP:0007495	Prematurely aged appearance	9569	GTF2IRD1	ORPHA:904
HP:0007495	Prematurely aged appearance	155382	VPS37D	ORPHA:904
HP:0007495	Prematurely aged appearance	155368	METTL27	ORPHA:904
HP:0007495	Prematurely aged appearance	114049	BUD23	ORPHA:904
HP:0007495	Prematurely aged appearance	7458	EIF4H	ORPHA:904
HP:0007495	Prematurely aged appearance	84163	GTF2IRD2	ORPHA:904
HP:0007495	Prematurely aged appearance	26608	TBL2	ORPHA:904
HP:0007495	Prematurely aged appearance	653361	NCF1	ORPHA:904
HP:0007495	Prematurely aged appearance	135886	TMEM270	ORPHA:904
HP:0007495	Prematurely aged appearance	9031	BAZ1B	ORPHA:904
HP:0007495	Prematurely aged appearance	92344	GORAB	ORPHA:2078
HP:0007495	Prematurely aged appearance	5831	PYCR1	ORPHA:2078
HP:0007495	Prematurely aged appearance	545	ATR	ORPHA:808
HP:0007495	Prematurely aged appearance	1062	CENPE	ORPHA:808
HP:0007495	Prematurely aged appearance	5116	PCNT	ORPHA:808
HP:0007495	Prematurely aged appearance	5932	RBBP8	ORPHA:808
HP:0007495	Prematurely aged appearance	79902	NUP85	ORPHA:808
HP:0007495	Prematurely aged appearance	84126	ATRIP	ORPHA:808
HP:0007495	Prematurely aged appearance	10293	TRAIP	ORPHA:808
HP:0007495	Prematurely aged appearance	1763	DNA2	ORPHA:808
HP:0007495	Prematurely aged appearance	22995	CEP152	ORPHA:808
HP:0007495	Prematurely aged appearance	10733	PLK4	ORPHA:808
HP:0007495	Prematurely aged appearance	81031	SLC2A10	ORPHA:3342
HP:0007495	Prematurely aged appearance	404672	GTF2H5	ORPHA:33364
HP:0007495	Prematurely aged appearance	833	CARS1	ORPHA:33364
HP:0007495	Prematurely aged appearance	2068	ERCC2	ORPHA:33364
HP:0007495	Prematurely aged appearance	2068	ERCC2	ORPHA:220295
HP:0007495	Prematurely aged appearance	7737	RNF113A	ORPHA:33364
HP:0007495	Prematurely aged appearance	136647	MPLKIP	ORPHA:33364
HP:0007495	Prematurely aged appearance	6897	TARS1	ORPHA:33364
HP:0007495	Prematurely aged appearance	16	AARS1	ORPHA:33364
HP:0007495	Prematurely aged appearance	2071	ERCC3	ORPHA:33364
HP:0007495	Prematurely aged appearance	2071	ERCC3	ORPHA:220295
HP:0007495	Prematurely aged appearance	2961	GTF2E2	ORPHA:33364
HP:0007495	Prematurely aged appearance	2072	ERCC4	OMIM:610965
HP:0007495	Prematurely aged appearance	2072	ERCC4	ORPHA:220295
HP:0007495	Prematurely aged appearance	11128	POLR3A	OMIM:264090
HP:0007495	Prematurely aged appearance	7486	WRN	ORPHA:902
HP:0007495	Prematurely aged appearance	7486	WRN	OMIM:277700
HP:0007495	Prematurely aged appearance	1277	COL1A1	ORPHA:287
HP:0007495	Prematurely aged appearance	1289	COL5A1	ORPHA:287
HP:0007495	Prematurely aged appearance	1290	COL5A2	ORPHA:287
HP:0007495	Prematurely aged appearance	472	ATM	ORPHA:100
HP:0007495	Prematurely aged appearance	1281	COL3A1	ORPHA:286
HP:0007495	Prematurely aged appearance	1281	COL3A1	ORPHA:2500
HP:0007495	Prematurely aged appearance	117581	TWIST2	ORPHA:1807
HP:0007495	Prematurely aged appearance	5159	PDGFRB	OMIM:601812
HP:0007495	Prematurely aged appearance	2073	ERCC5	ORPHA:220295
HP:0007495	Prematurely aged appearance	84168	ANTXR1	ORPHA:2067
HP:0007495	Prematurely aged appearance	4000	LMNA	ORPHA:79474
HP:0007495	Prematurely aged appearance	4000	LMNA	ORPHA:90153
HP:0007495	Prematurely aged appearance	1161	ERCC8	OMIM:216400
HP:0007495	Prematurely aged appearance	10269	ZMPSTE24	ORPHA:90154
HP:0007495	Prematurely aged appearance	2690	GHR	ORPHA:633
HP:0007495	Prematurely aged appearance	715	C1R	OMIM:130080
HP:0007495	Prematurely aged appearance	22808	MRAS	OMIM:618499
HP:0007495	Prematurely aged appearance	8216	LZTR1	OMIM:616564
HP:0007495	Prematurely aged appearance	8216	LZTR1	OMIM:605275
HP:0007495	Prematurely aged appearance	84627	ZNF469	OMIM:229200
HP:0007495	Prematurely aged appearance	6016	RIT1	OMIM:615355
HP:0007495	Prematurely aged appearance	2263	FGFR2	OMIM:123790
HP:0007495	Prematurely aged appearance	9333	TGM5	ORPHA:263534
HP:0007495	Prematurely aged appearance	1475	CSTA	ORPHA:263534
HP:0007495	Prematurely aged appearance	79718	TBL1XR1	ORPHA:487825
HP:0007495	Prematurely aged appearance	9968	MED12	ORPHA:93932
HP:0007495	Prematurely aged appearance	9968	MED12	OMIM:305450
HP:0007495	Prematurely aged appearance	5295	PIK3R1	OMIM:269880
HP:0007495	Prematurely aged appearance	10466	COG5	ORPHA:263487
HP:0007495	Prematurely aged appearance	51116	MRPS2	OMIM:617950
HP:0007495	Prematurely aged appearance	1861	TOR1A	OMIM:618947
HP:0007495	Prematurely aged appearance	6513	SLC2A1	ORPHA:1942
HP:0007495	Prematurely aged appearance	8831	SYNGAP1	ORPHA:1942
HP:0007495	Prematurely aged appearance	1173	AP2M1	ORPHA:1942
HP:0007495	Prematurely aged appearance	6323	SCN1A	ORPHA:1942
HP:0007495	Prematurely aged appearance	340533	NEXMIF	ORPHA:1942
HP:0007495	Prematurely aged appearance	1106	CHD2	ORPHA:1942
HP:0007495	Prematurely aged appearance	6529	SLC6A1	ORPHA:1942
HP:0007495	Prematurely aged appearance	79053	ALG8	ORPHA:79325
HP:0007495	Prematurely aged appearance	6888	TALDO1	ORPHA:101028
HP:0007495	Prematurely aged appearance	6595	SMARCA2	OMIM:601358
HP:0007495	Prematurely aged appearance	3977	LIFR	OMIM:601559
HP:0008066	Abnormal blistering of the skin	3872	KRT17	ORPHA:2309
HP:0008066	Abnormal blistering of the skin	3853	KRT6A	ORPHA:2309
HP:0008066	Abnormal blistering of the skin	3854	KRT6B	ORPHA:2309
HP:0008066	Abnormal blistering of the skin	1828	DSG1	OMIM:148700
HP:0008066	Abnormal blistering of the skin	3858	KRT10	ORPHA:312
HP:0008066	Abnormal blistering of the skin	3858	KRT10	OMIM:607602
HP:0008066	Abnormal blistering of the skin	3858	KRT10	OMIM:620150
HP:0008066	Abnormal blistering of the skin	3858	KRT10	OMIM:620707
HP:0008066	Abnormal blistering of the skin	3858	KRT10	OMIM:146600
HP:0008066	Abnormal blistering of the skin	3848	KRT1	ORPHA:312
HP:0008066	Abnormal blistering of the skin	3848	KRT1	OMIM:620148
HP:0008066	Abnormal blistering of the skin	3848	KRT1	OMIM:113800
HP:0008066	Abnormal blistering of the skin	3848	KRT1	OMIM:146590
HP:0008066	Abnormal blistering of the skin	3848	KRT1	ORPHA:2199
HP:0008066	Abnormal blistering of the skin	171023	ASXL1	ORPHA:98850
HP:0008066	Abnormal blistering of the skin	54790	TET2	ORPHA:98850
HP:0008066	Abnormal blistering of the skin	867	CBL	ORPHA:98850
HP:0008066	Abnormal blistering of the skin	861	RUNX1	ORPHA:98850
HP:0008066	Abnormal blistering of the skin	6427	SRSF2	ORPHA:98850
HP:0008066	Abnormal blistering of the skin	3815	KIT	ORPHA:280785
HP:0008066	Abnormal blistering of the skin	3815	KIT	ORPHA:280794
HP:0008066	Abnormal blistering of the skin	3815	KIT	ORPHA:79455
HP:0008066	Abnormal blistering of the skin	3852	KRT5	OMIM:619555
HP:0008066	Abnormal blistering of the skin	3852	KRT5	OMIM:131760
HP:0008066	Abnormal blistering of the skin	3852	KRT5	ORPHA:158681
HP:0008066	Abnormal blistering of the skin	3852	KRT5	ORPHA:79400
HP:0008066	Abnormal blistering of the skin	3852	KRT5	OMIM:619599
HP:0008066	Abnormal blistering of the skin	3852	KRT5	OMIM:131960
HP:0008066	Abnormal blistering of the skin	3852	KRT5	ORPHA:79396
HP:0008066	Abnormal blistering of the skin	3852	KRT5	ORPHA:79397
HP:0008066	Abnormal blistering of the skin	3852	KRT5	ORPHA:79399
HP:0008066	Abnormal blistering of the skin	3852	KRT5	OMIM:609352
HP:0008066	Abnormal blistering of the skin	3691	ITGB4	OMIM:226730
HP:0008066	Abnormal blistering of the skin	3691	ITGB4	ORPHA:158684
HP:0008066	Abnormal blistering of the skin	3691	ITGB4	ORPHA:79403
HP:0008066	Abnormal blistering of the skin	3691	ITGB4	ORPHA:79402
HP:0008066	Abnormal blistering of the skin	3691	ITGB4	OMIM:619816
HP:0008066	Abnormal blistering of the skin	3691	ITGB4	ORPHA:251393
HP:0008066	Abnormal blistering of the skin	5339	PLEC	OMIM:226730
HP:0008066	Abnormal blistering of the skin	5339	PLEC	ORPHA:158684
HP:0008066	Abnormal blistering of the skin	5339	PLEC	OMIM:612138
HP:0008066	Abnormal blistering of the skin	5339	PLEC	ORPHA:79401
HP:0008066	Abnormal blistering of the skin	5339	PLEC	OMIM:616487
HP:0008066	Abnormal blistering of the skin	5339	PLEC	OMIM:226670
HP:0008066	Abnormal blistering of the skin	3861	KRT14	OMIM:131760
HP:0008066	Abnormal blistering of the skin	3861	KRT14	ORPHA:89838
HP:0008066	Abnormal blistering of the skin	3861	KRT14	ORPHA:79400
HP:0008066	Abnormal blistering of the skin	3861	KRT14	OMIM:601001
HP:0008066	Abnormal blistering of the skin	3861	KRT14	OMIM:131900
HP:0008066	Abnormal blistering of the skin	3861	KRT14	ORPHA:79396
HP:0008066	Abnormal blistering of the skin	3861	KRT14	ORPHA:79397
HP:0008066	Abnormal blistering of the skin	3861	KRT14	ORPHA:79399
HP:0008066	Abnormal blistering of the skin	1763	DNA2	OMIM:620819
HP:0008066	Abnormal blistering of the skin	64682	ANAPC1	OMIM:618625
HP:0008066	Abnormal blistering of the skin	64682	ANAPC1	ORPHA:221008
HP:0008066	Abnormal blistering of the skin	3119	HLA-DQB1	ORPHA:703
HP:0008066	Abnormal blistering of the skin	3123	HLA-DRB1	ORPHA:703
HP:0008066	Abnormal blistering of the skin	10312	TCIRG1	ORPHA:667
HP:0008066	Abnormal blistering of the skin	1186	CLCN7	ORPHA:667
HP:0008066	Abnormal blistering of the skin	29887	SNX10	ORPHA:667
HP:0008066	Abnormal blistering of the skin	8600	TNFSF11	ORPHA:667
HP:0008066	Abnormal blistering of the skin	362	AQP5	ORPHA:2337
HP:0008066	Abnormal blistering of the skin	3655	ITGA6	ORPHA:79403
HP:0008066	Abnormal blistering of the skin	3655	ITGA6	OMIM:619817
HP:0008066	Abnormal blistering of the skin	3909	LAMA3	ORPHA:79404
HP:0008066	Abnormal blistering of the skin	3909	LAMA3	ORPHA:79402
HP:0008066	Abnormal blistering of the skin	3909	LAMA3	OMIM:226700
HP:0008066	Abnormal blistering of the skin	3909	LAMA3	OMIM:619784
HP:0008066	Abnormal blistering of the skin	3909	LAMA3	OMIM:619783
HP:0008066	Abnormal blistering of the skin	3918	LAMC2	ORPHA:79404
HP:0008066	Abnormal blistering of the skin	3918	LAMC2	ORPHA:79402
HP:0008066	Abnormal blistering of the skin	3918	LAMC2	OMIM:226700
HP:0008066	Abnormal blistering of the skin	3918	LAMC2	OMIM:619785
HP:0008066	Abnormal blistering of the skin	3918	LAMC2	OMIM:619786
HP:0008066	Abnormal blistering of the skin	3914	LAMB3	ORPHA:79404
HP:0008066	Abnormal blistering of the skin	3914	LAMB3	ORPHA:79402
HP:0008066	Abnormal blistering of the skin	3914	LAMB3	OMIM:226650
HP:0008066	Abnormal blistering of the skin	3914	LAMB3	OMIM:226700
HP:0008066	Abnormal blistering of the skin	1308	COL17A1	ORPHA:79406
HP:0008066	Abnormal blistering of the skin	1308	COL17A1	ORPHA:79402
HP:0008066	Abnormal blistering of the skin	1308	COL17A1	OMIM:619787
HP:0008066	Abnormal blistering of the skin	1308	COL17A1	ORPHA:251393
HP:0008066	Abnormal blistering of the skin	55630	SLC39A4	ORPHA:37
HP:0008066	Abnormal blistering of the skin	4312	MMP1	ORPHA:79408
HP:0008066	Abnormal blistering of the skin	1294	COL7A1	ORPHA:79408
HP:0008066	Abnormal blistering of the skin	1294	COL7A1	ORPHA:79409
HP:0008066	Abnormal blistering of the skin	1294	COL7A1	OMIM:226600
HP:0008066	Abnormal blistering of the skin	1294	COL7A1	ORPHA:158676
HP:0008066	Abnormal blistering of the skin	1294	COL7A1	ORPHA:89842
HP:0008066	Abnormal blistering of the skin	1294	COL7A1	ORPHA:158673
HP:0008066	Abnormal blistering of the skin	1294	COL7A1	ORPHA:89843
HP:0008066	Abnormal blistering of the skin	1294	COL7A1	ORPHA:79410
HP:0008066	Abnormal blistering of the skin	1294	COL7A1	ORPHA:79411
HP:0008066	Abnormal blistering of the skin	1294	COL7A1	OMIM:132000
HP:0008066	Abnormal blistering of the skin	1294	COL7A1	OMIM:131705
HP:0008066	Abnormal blistering of the skin	1294	COL7A1	ORPHA:231568
HP:0008066	Abnormal blistering of the skin	1294	COL7A1	OMIM:131750
HP:0008066	Abnormal blistering of the skin	3728	JUP	OMIM:601214
HP:0008066	Abnormal blistering of the skin	831	CAST	OMIM:616295
HP:0008066	Abnormal blistering of the skin	1825	DSC3	OMIM:613102
HP:0008066	Abnormal blistering of the skin	3849	KRT2	ORPHA:455
HP:0008066	Abnormal blistering of the skin	3106	HLA-B	ORPHA:36426
HP:0008066	Abnormal blistering of the skin	3106	HLA-B	ORPHA:117
HP:0008066	Abnormal blistering of the skin	10320	IKZF1	ORPHA:36426
HP:0008066	Abnormal blistering of the skin	340665	CYP26C1	ORPHA:398189
HP:0008066	Abnormal blistering of the skin	4210	MEFV	ORPHA:3243
HP:0008066	Abnormal blistering of the skin	4210	MEFV	ORPHA:117
HP:0008066	Abnormal blistering of the skin	5777	PTPN6	ORPHA:3243
HP:0008066	Abnormal blistering of the skin	7389	UROD	ORPHA:95159
HP:0008066	Abnormal blistering of the skin	673	BRAF	ORPHA:840
HP:0008066	Abnormal blistering of the skin	23086	EXPH5	OMIM:615028
HP:0008066	Abnormal blistering of the skin	667	DST	OMIM:615425
HP:0008066	Abnormal blistering of the skin	5498	PPOX	ORPHA:79473
HP:0008066	Abnormal blistering of the skin	5498	PPOX	OMIM:620483
HP:0008066	Abnormal blistering of the skin	2697	GJA1	ORPHA:317
HP:0008066	Abnormal blistering of the skin	2707	GJB3	ORPHA:317
HP:0008066	Abnormal blistering of the skin	2531	KDSR	ORPHA:317
HP:0008066	Abnormal blistering of the skin	127534	GJB4	ORPHA:317
HP:0008066	Abnormal blistering of the skin	5317	PKP1	OMIM:604536
HP:0008066	Abnormal blistering of the skin	5317	PKP1	ORPHA:158668
HP:0008066	Abnormal blistering of the skin	54800	KLHL24	OMIM:617294
HP:0008066	Abnormal blistering of the skin	9401	RECQL4	ORPHA:221016
HP:0008066	Abnormal blistering of the skin	5590	PRKCZ	ORPHA:1606
HP:0008066	Abnormal blistering of the skin	2563	GABRD	ORPHA:1606
HP:0008066	Abnormal blistering of the skin	23013	SPEN	ORPHA:1606
HP:0008066	Abnormal blistering of the skin	8510	MMP23B	ORPHA:1606
HP:0008066	Abnormal blistering of the skin	7798	LUZP1	ORPHA:1606
HP:0008066	Abnormal blistering of the skin	6497	SKI	ORPHA:1606
HP:0008066	Abnormal blistering of the skin	10630	PDPN	ORPHA:1606
HP:0008066	Abnormal blistering of the skin	3339	HSPG2	ORPHA:1606
HP:0008066	Abnormal blistering of the skin	10277	UBE4B	ORPHA:1606
HP:0008066	Abnormal blistering of the skin	8514	KCNAB2	ORPHA:1606
HP:0008066	Abnormal blistering of the skin	473	RERE	ORPHA:1606
HP:0008066	Abnormal blistering of the skin	63976	PRDM16	ORPHA:1606
HP:0008066	Abnormal blistering of the skin	54897	CASZ1	ORPHA:1606
HP:0008066	Abnormal blistering of the skin	3675	ITGA3	OMIM:614748
HP:0008066	Abnormal blistering of the skin	8517	IKBKG	ORPHA:464
HP:0008066	Abnormal blistering of the skin	8517	IKBKG	OMIM:308300
HP:0008066	Abnormal blistering of the skin	1893	ECM1	ORPHA:530
HP:0008066	Abnormal blistering of the skin	1893	ECM1	OMIM:247100
HP:0008066	Abnormal blistering of the skin	55739	NAXD	OMIM:618321
HP:0008066	Abnormal blistering of the skin	55612	FERMT1	ORPHA:2908
HP:0008066	Abnormal blistering of the skin	340024	SLC6A19	ORPHA:2116
HP:0008066	Abnormal blistering of the skin	57393	CLTRN	ORPHA:2116
HP:0008066	Abnormal blistering of the skin	50943	FOXP3	ORPHA:37042
HP:0008066	Abnormal blistering of the skin	3868	KRT16	ORPHA:2199
HP:0008066	Abnormal blistering of the skin	3857	KRT9	ORPHA:2199
HP:0008066	Abnormal blistering of the skin	641	BLM	ORPHA:125
HP:0008066	Abnormal blistering of the skin	9333	TGM5	ORPHA:263534
HP:0008066	Abnormal blistering of the skin	1475	CSTA	ORPHA:263534
HP:0008066	Abnormal blistering of the skin	1832	DSP	OMIM:605676
HP:0008066	Abnormal blistering of the skin	1832	DSP	OMIM:609638
HP:0008066	Abnormal blistering of the skin	80169	CTC1	ORPHA:1775
HP:0008066	Abnormal blistering of the skin	26277	TINF2	ORPHA:1775
HP:0008066	Abnormal blistering of the skin	55651	NHP2	ORPHA:1775
HP:0008066	Abnormal blistering of the skin	79650	USB1	ORPHA:1775
HP:0008066	Abnormal blistering of the skin	55135	WRAP53	ORPHA:1775
HP:0008066	Abnormal blistering of the skin	51750	RTEL1	ORPHA:1775
HP:0008066	Abnormal blistering of the skin	4869	NPM1	ORPHA:1775
HP:0008066	Abnormal blistering of the skin	7012	TERC	ORPHA:1775
HP:0008066	Abnormal blistering of the skin	55505	NOP10	ORPHA:1775
HP:0008066	Abnormal blistering of the skin	5073	PARN	ORPHA:1775
HP:0008066	Abnormal blistering of the skin	7015	TERT	ORPHA:1775
HP:0008066	Abnormal blistering of the skin	1736	DKC1	ORPHA:1775
HP:0008066	Abnormal blistering of the skin	7298	TYMS	ORPHA:1775
HP:0008066	Abnormal blistering of the skin	1371	CPOX	ORPHA:79273
HP:0008066	Abnormal blistering of the skin	7390	UROS	ORPHA:79277
HP:0008066	Abnormal blistering of the skin	2623	GATA1	ORPHA:79277
HP:0008066	Abnormal blistering of the skin	56916	SMARCAD1	ORPHA:1658
HP:0008066	Abnormal blistering of the skin	149233	IL23R	ORPHA:117
HP:0008066	Abnormal blistering of the skin	6775	STAT4	ORPHA:117
HP:0008066	Abnormal blistering of the skin	3586	IL10	ORPHA:117
HP:0008066	Abnormal blistering of the skin	1230	CCR1	ORPHA:117
HP:0008066	Abnormal blistering of the skin	355	FAS	ORPHA:117
HP:0008066	Abnormal blistering of the skin	3592	IL12A	ORPHA:117
HP:0008066	Abnormal blistering of the skin	101928376	IL12A-AS1	ORPHA:117
HP:0008066	Abnormal blistering of the skin	7099	TLR4	ORPHA:117
HP:0008066	Abnormal blistering of the skin	3459	IFNGR1	ORPHA:117
HP:0008066	Abnormal blistering of the skin	720	C4A	ORPHA:117
HP:0008066	Abnormal blistering of the skin	337867	UBAC2	ORPHA:117
HP:0008066	Abnormal blistering of the skin	51752	ERAP1	ORPHA:117
HP:0008066	Abnormal blistering of the skin	8302	KLRC4	ORPHA:117
HP:0008066	Abnormal blistering of the skin	1280	COL2A1	ORPHA:85198
HP:0008066	Abnormal blistering of the skin	977	CD151	OMIM:609057
HP:0008066	Abnormal blistering of the skin	23219	FBXO28	OMIM:619777
HP:0008066	Abnormal blistering of the skin	1041	CDSN	OMIM:270300
HP:0008066	Abnormal blistering of the skin	1830	DSG3	OMIM:619226
HP:0007497	Focal friction-related palmoplantar hyperkeratosis	3852	KRT5	ORPHA:79400
HP:0007497	Focal friction-related palmoplantar hyperkeratosis	3861	KRT14	ORPHA:79400
HP:0000956	Acanthosis nigricans	3767	KCNJ11	ORPHA:552
HP:0000956	Acanthosis nigricans	8462	KLF11	ORPHA:552
HP:0000956	Acanthosis nigricans	2645	GCK	ORPHA:552
HP:0000956	Acanthosis nigricans	26060	APPL1	ORPHA:552
HP:0000956	Acanthosis nigricans	640	BLK	ORPHA:552
HP:0000956	Acanthosis nigricans	1056	CEL	ORPHA:552
HP:0000956	Acanthosis nigricans	4760	NEUROD1	ORPHA:552
HP:0000956	Acanthosis nigricans	3651	PDX1	ORPHA:552
HP:0000956	Acanthosis nigricans	6833	ABCC8	ORPHA:552
HP:0000956	Acanthosis nigricans	5078	PAX4	ORPHA:552
HP:0000956	Acanthosis nigricans	3172	HNF4A	ORPHA:552
HP:0000956	Acanthosis nigricans	6927	HNF1A	ORPHA:552
HP:0000956	Acanthosis nigricans	3630	INS	ORPHA:552
HP:0000956	Acanthosis nigricans	699	BUB1	OMIM:620183
HP:0000956	Acanthosis nigricans	11198	SUPT16H	ORPHA:261229
HP:0000956	Acanthosis nigricans	57680	CHD8	ORPHA:261229
HP:0000956	Acanthosis nigricans	7840	ALMS1	ORPHA:64
HP:0000956	Acanthosis nigricans	7840	ALMS1	OMIM:203800
HP:0000956	Acanthosis nigricans	3643	INSR	OMIM:262190
HP:0000956	Acanthosis nigricans	3643	INSR	ORPHA:508
HP:0000956	Acanthosis nigricans	3643	INSR	OMIM:246200
HP:0000956	Acanthosis nigricans	3643	INSR	ORPHA:769
HP:0000956	Acanthosis nigricans	286053	NSMCE2	OMIM:617253
HP:0000956	Acanthosis nigricans	2261	FGFR3	OMIM:616482
HP:0000956	Acanthosis nigricans	2261	FGFR3	OMIM:612247
HP:0000956	Acanthosis nigricans	2261	FGFR3	ORPHA:93274
HP:0000956	Acanthosis nigricans	2261	FGFR3	ORPHA:93262
HP:0000956	Acanthosis nigricans	2261	FGFR3	OMIM:146000
HP:0000956	Acanthosis nigricans	2261	FGFR3	ORPHA:85165
HP:0000956	Acanthosis nigricans	2261	FGFR3	ORPHA:1860
HP:0000956	Acanthosis nigricans	2261	FGFR3	ORPHA:15
HP:0000956	Acanthosis nigricans	26580	BSCL2	OMIM:269700
HP:0000956	Acanthosis nigricans	26580	BSCL2	ORPHA:363400
HP:0000956	Acanthosis nigricans	26580	BSCL2	ORPHA:528
HP:0000956	Acanthosis nigricans	5122	PCSK1	ORPHA:71528
HP:0000956	Acanthosis nigricans	4160	MC4R	ORPHA:71529
HP:0000956	Acanthosis nigricans	3991	LIPE	ORPHA:435660
HP:0000956	Acanthosis nigricans	3991	LIPE	OMIM:615980
HP:0000956	Acanthosis nigricans	3290	HSD11B1	OMIM:614662
HP:0000956	Acanthosis nigricans	91461	PKDCC	OMIM:618821
HP:0000956	Acanthosis nigricans	63924	CIDEC	OMIM:615238
HP:0000956	Acanthosis nigricans	63924	CIDEC	ORPHA:435651
HP:0000956	Acanthosis nigricans	5443	POMC	ORPHA:71526
HP:0000956	Acanthosis nigricans	857	CAV1	OMIM:612526
HP:0000956	Acanthosis nigricans	857	CAV1	ORPHA:528
HP:0000956	Acanthosis nigricans	857	CAV1	OMIM:606721
HP:0000956	Acanthosis nigricans	5189	PEX1	ORPHA:3220
HP:0000956	Acanthosis nigricans	5190	PEX6	ORPHA:3220
HP:0000956	Acanthosis nigricans	2099	ESR1	ORPHA:785
HP:0000956	Acanthosis nigricans	2099	ESR1	OMIM:615363
HP:0000956	Acanthosis nigricans	27125	AFF4	ORPHA:444077
HP:0000956	Acanthosis nigricans	5346	PLIN1	ORPHA:280356
HP:0000956	Acanthosis nigricans	5346	PLIN1	OMIM:613877
HP:0000956	Acanthosis nigricans	5468	PPARG	OMIM:604367
HP:0000956	Acanthosis nigricans	5468	PPARG	ORPHA:79083
HP:0000956	Acanthosis nigricans	5468	PPARG	ORPHA:528
HP:0000956	Acanthosis nigricans	3728	JUP	ORPHA:34217
HP:0000956	Acanthosis nigricans	2263	FGFR2	ORPHA:1555
HP:0000956	Acanthosis nigricans	2263	FGFR2	OMIM:123790
HP:0000956	Acanthosis nigricans	2263	FGFR2	ORPHA:207
HP:0000956	Acanthosis nigricans	23187	PHLDB1	OMIM:620639
HP:0000956	Acanthosis nigricans	150	ADRA2A	OMIM:620679
HP:0000956	Acanthosis nigricans	8450	CUL4B	ORPHA:85293
HP:0000956	Acanthosis nigricans	4000	LMNA	OMIM:248370
HP:0000956	Acanthosis nigricans	4000	LMNA	ORPHA:280365
HP:0000956	Acanthosis nigricans	4000	LMNA	ORPHA:79084
HP:0000956	Acanthosis nigricans	4000	LMNA	OMIM:151660
HP:0000956	Acanthosis nigricans	4000	LMNA	ORPHA:2348
HP:0000956	Acanthosis nigricans	9076	CLDN1	ORPHA:59303
HP:0000956	Acanthosis nigricans	11128	POLR3A	ORPHA:3455
HP:0000956	Acanthosis nigricans	7030	TFE3	OMIM:301066
HP:0000956	Acanthosis nigricans	5692	PSMB4	OMIM:617591
HP:0000956	Acanthosis nigricans	7518	XRCC4	OMIM:616541
HP:0000956	Acanthosis nigricans	6603	SMARCD2	OMIM:617475
HP:0000956	Acanthosis nigricans	1315	COPB1	OMIM:619255
HP:0000956	Acanthosis nigricans	64834	ELOVL1	OMIM:618527
HP:0000956	Acanthosis nigricans	208	AKT2	ORPHA:79085
HP:0000956	Acanthosis nigricans	2077	ERF	ORPHA:207
HP:0000956	Acanthosis nigricans	11145	PLAAT3	OMIM:620683
HP:0000956	Acanthosis nigricans	10555	AGPAT2	ORPHA:528
HP:0000956	Acanthosis nigricans	10555	AGPAT2	OMIM:608594
HP:0000956	Acanthosis nigricans	284119	CAVIN1	ORPHA:528
HP:0000956	Acanthosis nigricans	284119	CAVIN1	OMIM:613327
HP:0000956	Acanthosis nigricans	2353	FOS	ORPHA:528
HP:0000956	Acanthosis nigricans	83550	GPR101	ORPHA:963
HP:0000956	Acanthosis nigricans	83550	GPR101	OMIM:300942
HP:0000956	Acanthosis nigricans	9049	AIP	ORPHA:963
HP:0000956	Acanthosis nigricans	3265	HRAS	ORPHA:3071
HP:0000956	Acanthosis nigricans	3265	HRAS	OMIM:218040
HP:0000956	Acanthosis nigricans	335	APOA1	OMIM:620657
HP:0000956	Acanthosis nigricans	5696	PSMB8	OMIM:256040
HP:0000956	Acanthosis nigricans	3720	JARID2	OMIM:620098
HP:0000956	Acanthosis nigricans	1588	CYP19A1	ORPHA:91
HP:0000956	Acanthosis nigricans	11005	SPINK5	ORPHA:634
HP:0007499	Recurrent staphylococcal infections	4914	NTRK1	ORPHA:642
HP:0007499	Recurrent staphylococcal infections	6804	STX1A	ORPHA:586
HP:0007499	Recurrent staphylococcal infections	2947	GSTM3	ORPHA:586
HP:0007499	Recurrent staphylococcal infections	7040	TGFB1	ORPHA:586
HP:0007499	Recurrent staphylococcal infections	2729	GCLC	ORPHA:586
HP:0007499	Recurrent staphylococcal infections	1084	CEACAM3	ORPHA:586
HP:0007499	Recurrent staphylococcal infections	6556	SLC11A1	ORPHA:586
HP:0007499	Recurrent staphylococcal infections	51164	DCTN4	ORPHA:586
HP:0007499	Recurrent staphylococcal infections	3783	KCNN4	ORPHA:586
HP:0007499	Recurrent staphylococcal infections	4282	MIF	ORPHA:586
HP:0007499	Recurrent staphylococcal infections	1909	EDNRA	ORPHA:586
HP:0007499	Recurrent staphylococcal infections	6550	SLC9A3	ORPHA:586
HP:0007499	Recurrent staphylococcal infections	3162	HMOX1	ORPHA:586
HP:0007499	Recurrent staphylococcal infections	115019	SLC26A9	ORPHA:586
HP:0007499	Recurrent staphylococcal infections	3077	HFE	ORPHA:586
HP:0007499	Recurrent staphylococcal infections	11254	SLC6A14	ORPHA:586
HP:0007499	Recurrent staphylococcal infections	5265	SERPINA1	ORPHA:586
HP:0007499	Recurrent staphylococcal infections	1080	CFTR	ORPHA:586
HP:0007499	Recurrent staphylococcal infections	22802	CLCA4	ORPHA:586
HP:0007499	Recurrent staphylococcal infections	4680	CEACAM6	ORPHA:586
HP:0007499	Recurrent staphylococcal infections	1536	CYBB	OMIM:306400
HP:0007499	Recurrent staphylococcal infections	5994	RFXAP	ORPHA:572
HP:0007499	Recurrent staphylococcal infections	4261	CIITA	ORPHA:572
HP:0007499	Recurrent staphylococcal infections	5993	RFX5	ORPHA:572
HP:0007499	Recurrent staphylococcal infections	8625	RFXANK	ORPHA:572
HP:0007499	Recurrent staphylococcal infections	6774	STAT3	OMIM:147060
HP:0007499	Recurrent staphylococcal infections	6774	STAT3	ORPHA:2314
HP:0007499	Recurrent staphylococcal infections	8547	FCN3	OMIM:613860
HP:0007499	Recurrent staphylococcal infections	4688	NCF2	OMIM:233710
HP:0007499	Recurrent staphylococcal infections	8456	FOXN1	ORPHA:83471
HP:0007499	Recurrent staphylococcal infections	653361	NCF1	OMIM:233700
HP:0007499	Recurrent staphylococcal infections	23765	IL17RA	OMIM:613953
HP:0007499	Recurrent staphylococcal infections	1535	CYBA	OMIM:233690
HP:0007499	Recurrent staphylococcal infections	1130	LYST	ORPHA:167
HP:0007499	Recurrent staphylococcal infections	3689	ITGB2	OMIM:116920
HP:0007499	Recurrent staphylococcal infections	5238	PGM3	OMIM:615816
HP:0007499	Recurrent staphylococcal infections	51135	IRAK4	OMIM:607676
HP:0007499	Recurrent staphylococcal infections	51135	IRAK4	ORPHA:70592
HP:0007470	Periarticular subcutaneous nodules	427	ASAH1	OMIM:228000
HP:0007470	Periarticular subcutaneous nodules	427	ASAH1	ORPHA:333
HP:0007470	Periarticular subcutaneous nodules	55699	IARS2	ORPHA:436174
HP:0007473	Crusting erythematous dermatitis	5184	PEPD	OMIM:170100
HP:0007473	Crusting erythematous dermatitis	5184	PEPD	ORPHA:742
HP:0007473	Crusting erythematous dermatitis	50943	FOXP3	ORPHA:37042
HP:0007473	Crusting erythematous dermatitis	1294	COL7A1	ORPHA:158673
HP:0007475	Congenital bullous ichthyosiform erythroderma	3858	KRT10	ORPHA:312
HP:0007475	Congenital bullous ichthyosiform erythroderma	3858	KRT10	OMIM:607602
HP:0007475	Congenital bullous ichthyosiform erythroderma	3848	KRT1	ORPHA:312
HP:0007475	Congenital bullous ichthyosiform erythroderma	3848	KRT1	OMIM:113800
HP:0007475	Congenital bullous ichthyosiform erythroderma	3849	KRT2	OMIM:146800
HP:0007475	Congenital bullous ichthyosiform erythroderma	3868	KRT16	OMIM:613000
HP:0025080	Orthokeratotic hyperkeratosis	1080	CFTR	ORPHA:498359
HP:0025080	Orthokeratotic hyperkeratosis	8710	SERPINB7	OMIM:615598
HP:0025080	Orthokeratotic hyperkeratosis	284654	RSPO1	OMIM:610644
HP:0025080	Orthokeratotic hyperkeratosis	6820	SULT2B1	OMIM:617571
HP:0025080	Orthokeratotic hyperkeratosis	285848	PNPLA1	OMIM:615024
HP:0025080	Orthokeratotic hyperkeratosis	1828	DSG1	OMIM:148700
HP:0025080	Orthokeratotic hyperkeratosis	3858	KRT10	OMIM:146600
HP:0025081	Darier's sign	3815	KIT	ORPHA:79455
HP:0025082	Abnormal cutaneous elastic fiber morphology	10516	FBLN5	OMIM:219100
HP:0025082	Abnormal cutaneous elastic fiber morphology	23545	ATP6V0A2	ORPHA:2834
HP:0025082	Abnormal cutaneous elastic fiber morphology	23545	ATP6V0A2	ORPHA:357074
HP:0025082	Abnormal cutaneous elastic fiber morphology	340665	CYP26C1	ORPHA:398189
HP:0025082	Abnormal cutaneous elastic fiber morphology	2006	ELN	ORPHA:90348
HP:0025082	Abnormal cutaneous elastic fiber morphology	5832	ALDH18A1	ORPHA:90348
HP:0025082	Abnormal cutaneous elastic fiber morphology	4052	LTBP1	ORPHA:90349
HP:0025082	Abnormal cutaneous elastic fiber morphology	30008	EFEMP2	ORPHA:90349
HP:0025082	Abnormal cutaneous elastic fiber morphology	523	ATP6V1A	ORPHA:357074
HP:0025082	Abnormal cutaneous elastic fiber morphology	529	ATP6V1E1	ORPHA:357074
HP:0025084	Folliculitis	10625	IVNS1ABP	OMIM:618969
HP:0025084	Folliculitis	10804	GJB6	ORPHA:477
HP:0025084	Folliculitis	2706	GJB2	ORPHA:477
HP:0025084	Folliculitis	51360	MBTPS2	OMIM:308800
HP:0025084	Folliculitis	3587	IL10RA	OMIM:613148
HP:0025084	Folliculitis	23765	IL17RA	OMIM:613953
HP:0025084	Folliculitis	3588	IL10RB	OMIM:612567
HP:0025084	Folliculitis	3872	KRT17	OMIM:167210
HP:0025084	Folliculitis	331	XIAP	OMIM:300635
HP:0025085	Bloody diarrhea	94	ACVRL1	OMIM:600376
HP:0025085	Bloody diarrhea	9493	KIF23	ORPHA:98870
HP:0025085	Bloody diarrhea	29127	RACGAP1	ORPHA:98870
HP:0025085	Bloody diarrhea	4221	MEN1	ORPHA:652
HP:0025085	Bloody diarrhea	1027	CDKN1B	ORPHA:652
HP:0025085	Bloody diarrhea	1026	CDKN1A	ORPHA:652
HP:0025085	Bloody diarrhea	1030	CDKN2B	ORPHA:652
HP:0025085	Bloody diarrhea	1031	CDKN2C	ORPHA:652
HP:0025085	Bloody diarrhea	2022	ENG	OMIM:187300
HP:0025085	Bloody diarrhea	7454	WAS	OMIM:301000
HP:0025085	Bloody diarrhea	324	APC	ORPHA:99818
HP:0025085	Bloody diarrhea	324	APC	OMIM:619182
HP:0025085	Bloody diarrhea	2184	FAH	OMIM:276700
HP:0025085	Bloody diarrhea	6720	SREBF1	OMIM:158310
HP:0025085	Bloody diarrhea	2158	F9	OMIM:306900
HP:0025085	Bloody diarrhea	2157	F8	OMIM:306700
HP:0025085	Bloody diarrhea	5728	PTEN	ORPHA:79076
HP:0025085	Bloody diarrhea	657	BMPR1A	ORPHA:79076
HP:0025085	Bloody diarrhea	2811	GP1BA	ORPHA:853
HP:0025085	Bloody diarrhea	2812	GP1BB	ORPHA:853
HP:0025085	Bloody diarrhea	3674	ITGA2B	ORPHA:853
HP:0025085	Bloody diarrhea	3673	ITGA2	ORPHA:853
HP:0025085	Bloody diarrhea	135228	CD109	ORPHA:853
HP:0025085	Bloody diarrhea	3690	ITGB3	ORPHA:853
HP:0025085	Bloody diarrhea	83483	PLVAP	OMIM:618183
HP:0025085	Bloody diarrhea	57551	TAOK1	OMIM:619575
HP:0025085	Bloody diarrhea	4089	SMAD4	OMIM:174900
HP:0025085	Bloody diarrhea	4089	SMAD4	ORPHA:329971
HP:0025085	Bloody diarrhea	4089	SMAD4	OMIM:175050
HP:0025085	Bloody diarrhea	26585	GREM1	ORPHA:157794
HP:0025085	Bloody diarrhea	10616	RBCK1	OMIM:615895
HP:0025085	Bloody diarrhea	3257	HPS1	OMIM:203300
HP:0025085	Bloody diarrhea	7456	WIPF1	ORPHA:906
HP:0025085	Bloody diarrhea	9420	CYP7B1	OMIM:613812
HP:0025085	Bloody diarrhea	23600	AMACR	OMIM:214950
HP:0025085	Bloody diarrhea	23600	AMACR	ORPHA:79095
HP:0025085	Bloody diarrhea	10092	ARPC5	OMIM:620565
HP:0025085	Bloody diarrhea	2153	F5	ORPHA:326
HP:0025085	Bloody diarrhea	3587	IL10RA	OMIM:613148
HP:0025085	Bloody diarrhea	81858	SHARPIN	OMIM:620795
HP:0025085	Bloody diarrhea	57217	TTC7A	OMIM:243150
HP:0025085	Bloody diarrhea	57217	TTC7A	ORPHA:436252
HP:0025085	Bloody diarrhea	22900	CARD8	OMIM:619079
HP:0025085	Bloody diarrhea	27178	IL37	OMIM:619398
HP:0025085	Bloody diarrhea	1355	COX15	OMIM:615119
HP:0025085	Bloody diarrhea	6499	SKIC2	OMIM:614602
HP:0025085	Bloody diarrhea	6499	SKIC2	ORPHA:84064
HP:0025085	Bloody diarrhea	5297	PI4KA	ORPHA:436252
HP:0025085	Bloody diarrhea	6868	ADAM17	OMIM:614328
HP:0025085	Bloody diarrhea	6868	ADAM17	ORPHA:294023
HP:0025085	Bloody diarrhea	6794	STK11	OMIM:175200
HP:0025085	Bloody diarrhea	10095	ARPC1B	OMIM:617718
HP:0025085	Bloody diarrhea	6476	SI	ORPHA:35122
HP:0025085	Bloody diarrhea	546	ATRX	ORPHA:100075
HP:0025085	Bloody diarrhea	7040	TGFB1	OMIM:618213
HP:0025085	Bloody diarrhea	9652	SKIC3	ORPHA:84064
HP:0025085	Bloody diarrhea	64135	IFIH1	OMIM:615846
HP:0025085	Bloody diarrhea	1956	EGFR	ORPHA:294023
HP:0025088	Onychomadesis	3852	KRT5	OMIM:619594
HP:0025088	Onychomadesis	3107	HLA-C	OMIM:177900
HP:0007476	Anhidrotic ectodermal dysplasia	4792	NFKBIA	OMIM:612132
HP:0007476	Anhidrotic ectodermal dysplasia	8626	TP63	OMIM:129400
HP:0007460	Autoamputation of digits	3848	KRT1	ORPHA:79503
HP:0007460	Autoamputation of digits	2706	GJB2	ORPHA:494
HP:0007460	Autoamputation of digits	2706	GJB2	OMIM:124500
HP:0007460	Autoamputation of digits	65125	WNK1	OMIM:201300
HP:0007460	Autoamputation of digits	54463	RETREG1	OMIM:201300
HP:0007460	Autoamputation of digits	54463	RETREG1	OMIM:613115
HP:0007460	Autoamputation of digits	6335	SCN9A	OMIM:201300
HP:0007460	Autoamputation of digits	547	KIF1A	OMIM:201300
HP:0007460	Autoamputation of digits	547	KIF1A	OMIM:614213
HP:0007460	Autoamputation of digits	162514	TRPV3	OMIM:614594
HP:0007460	Autoamputation of digits	7051	TGM1	ORPHA:100976
HP:0007460	Autoamputation of digits	9517	SPTLC2	OMIM:613640
HP:0007460	Autoamputation of digits	26276	VPS33B	OMIM:620009
HP:0007460	Autoamputation of digits	4358	MPV17	OMIM:256810
HP:0007460	Autoamputation of digits	4914	NTRK1	OMIM:256800
HP:0007460	Autoamputation of digits	11277	TREX1	OMIM:610448
HP:0007460	Autoamputation of digits	51062	ATL1	OMIM:613708
HP:0007461	Hemangiomatosis	440275	EIF2AK4	OMIM:234810
HP:0007461	Hemangiomatosis	440275	EIF2AK4	ORPHA:199241
HP:0007461	Hemangiomatosis	826	CAPNS1	OMIM:620777
HP:0007461	Hemangiomatosis	595	CCND1	OMIM:193300
HP:0007461	Hemangiomatosis	7428	VHL	OMIM:193300
HP:0007461	Hemangiomatosis	5921	RASA1	ORPHA:90307
HP:0007461	Hemangiomatosis	3418	IDH2	ORPHA:163634
HP:0007461	Hemangiomatosis	3417	IDH1	ORPHA:163634
HP:0007461	Hemangiomatosis	2658	GDF2	ORPHA:774
HP:0007461	Hemangiomatosis	94	ACVRL1	ORPHA:774
HP:0007461	Hemangiomatosis	4089	SMAD4	ORPHA:774
HP:0007461	Hemangiomatosis	2022	ENG	ORPHA:774
HP:0007461	Hemangiomatosis	5745	PTH1R	ORPHA:296
HP:0007461	Hemangiomatosis	2263	FGFR2	ORPHA:1555
HP:0007461	Hemangiomatosis	7010	TEK	ORPHA:1059
HP:0007461	Hemangiomatosis	5290	PIK3CA	ORPHA:60040
HP:0007461	Hemangiomatosis	2260	FGFR1	ORPHA:2396
HP:0007461	Hemangiomatosis	3845	KRAS	ORPHA:2396
HP:0007461	Hemangiomatosis	5728	PTEN	ORPHA:109
HP:0007461	Hemangiomatosis	5728	PTEN	ORPHA:137608
HP:0007461	Hemangiomatosis	1836	SLC26A2	ORPHA:628
HP:0007461	Hemangiomatosis	207	AKT1	ORPHA:744
HP:0007461	Hemangiomatosis	2776	GNAQ	ORPHA:3205
HP:0001934	Persistent bleeding after trauma	5345	SERPINF2	ORPHA:79
HP:0001934	Persistent bleeding after trauma	5345	SERPINF2	OMIM:262850
HP:0001934	Persistent bleeding after trauma	2165	F13B	ORPHA:331
HP:0001934	Persistent bleeding after trauma	2162	F13A1	ORPHA:331
HP:0001934	Persistent bleeding after trauma	2162	F13A1	OMIM:613225
HP:0001934	Persistent bleeding after trauma	2158	F9	OMIM:306900
HP:0001934	Persistent bleeding after trauma	5054	SERPINE1	ORPHA:465
HP:0001934	Persistent bleeding after trauma	2157	F8	OMIM:306700
HP:0001934	Persistent bleeding after trauma	2157	F8	ORPHA:169802
HP:0001934	Persistent bleeding after trauma	2266	FGG	OMIM:202400
HP:0001934	Persistent bleeding after trauma	2243	FGA	OMIM:202400
HP:0001934	Persistent bleeding after trauma	2244	FGB	OMIM:202400
HP:0001934	Persistent bleeding after trauma	7450	VWF	OMIM:193400
HP:0001934	Persistent bleeding after trauma	7450	VWF	OMIM:277480
HP:0001934	Persistent bleeding after trauma	2623	GATA1	OMIM:300367
HP:0001934	Persistent bleeding after trauma	84062	DTNBP1	OMIM:614076
HP:0001934	Persistent bleeding after trauma	90411	MCFD2	OMIM:613625
HP:0001934	Persistent bleeding after trauma	64805	P2RY12	OMIM:609821
HP:0001934	Persistent bleeding after trauma	2153	F5	ORPHA:326
HP:0007464	Sparse facial hair	6023	RMRP	OMIM:250250
HP:0007465	Honeycomb palmoplantar hyperkeratosis	4014	LORICRIN	OMIM:604117
HP:0007465	Honeycomb palmoplantar hyperkeratosis	4014	LORICRIN	ORPHA:79395
HP:0007465	Honeycomb palmoplantar hyperkeratosis	2706	GJB2	OMIM:124500
HP:0007465	Honeycomb palmoplantar hyperkeratosis	2706	GJB2	ORPHA:494
HP:0007465	Honeycomb palmoplantar hyperkeratosis	51371	POMP	OMIM:601952
HP:0007466	Midfrontal capillary hemangioma	4247	MGAT2	OMIM:212066
HP:0007466	Midfrontal capillary hemangioma	5447	POR	ORPHA:95699
HP:0001000	Abnormality of skin pigmentation	128	ADH5	OMIM:619151
HP:0001000	Abnormality of skin pigmentation	8036	SHOC2	OMIM:607721
HP:0001000	Abnormality of skin pigmentation	8216	LZTR1	OMIM:616564
HP:0001000	Abnormality of skin pigmentation	8216	LZTR1	OMIM:605275
HP:0001000	Abnormality of skin pigmentation	3852	KRT5	ORPHA:158681
HP:0001000	Abnormality of skin pigmentation	3852	KRT5	ORPHA:79396
HP:0001000	Abnormality of skin pigmentation	6016	RIT1	OMIM:615355
HP:0001000	Abnormality of skin pigmentation	118429	ANTXR2	ORPHA:2176
HP:0001000	Abnormality of skin pigmentation	1736	DKC1	OMIM:305000
HP:0001000	Abnormality of skin pigmentation	148738	HJV	OMIM:602390
HP:0001000	Abnormality of skin pigmentation	4173	MCM4	OMIM:609981
HP:0001000	Abnormality of skin pigmentation	64324	NSD1	ORPHA:821
HP:0001000	Abnormality of skin pigmentation	10297	APC2	ORPHA:821
HP:0001000	Abnormality of skin pigmentation	10999	SLC27A4	OMIM:608649
HP:0001000	Abnormality of skin pigmentation	55315	SLC29A3	OMIM:602782
HP:0001000	Abnormality of skin pigmentation	55315	SLC29A3	ORPHA:168569
HP:0001000	Abnormality of skin pigmentation	1584	CYP11B1	OMIM:202010
HP:0001000	Abnormality of skin pigmentation	1584	CYP11B1	ORPHA:90795
HP:0001000	Abnormality of skin pigmentation	1583	CYP11A1	OMIM:613743
HP:0001000	Abnormality of skin pigmentation	10587	TXNRD2	OMIM:617825
HP:0001000	Abnormality of skin pigmentation	56246	MRAP	OMIM:607398
HP:0001000	Abnormality of skin pigmentation	3284	HSD3B2	ORPHA:90791
HP:0001000	Abnormality of skin pigmentation	4000	LMNA	ORPHA:90153
HP:0001000	Abnormality of skin pigmentation	30061	SLC40A1	OMIM:606069
HP:0001000	Abnormality of skin pigmentation	10269	ZMPSTE24	ORPHA:90154
HP:0001000	Abnormality of skin pigmentation	8626	TP63	OMIM:106260
HP:0001000	Abnormality of skin pigmentation	84196	USP48	ORPHA:96253
HP:0001000	Abnormality of skin pigmentation	7157	TP53	ORPHA:96253
HP:0001000	Abnormality of skin pigmentation	9101	USP8	ORPHA:96253
HP:0001000	Abnormality of skin pigmentation	64072	CDH23	ORPHA:96253
HP:0001000	Abnormality of skin pigmentation	2908	NR3C1	ORPHA:96253
HP:0001000	Abnormality of skin pigmentation	546	ATRX	ORPHA:96253
HP:0001000	Abnormality of skin pigmentation	3861	KRT14	ORPHA:89838
HP:0001000	Abnormality of skin pigmentation	3861	KRT14	ORPHA:79396
HP:0001000	Abnormality of skin pigmentation	165	AEBP1	OMIM:618000
HP:0001000	Abnormality of skin pigmentation	10804	GJB6	OMIM:129500
HP:0001000	Abnormality of skin pigmentation	10804	GJB6	ORPHA:189
HP:0001000	Abnormality of skin pigmentation	7389	UROD	ORPHA:95159
HP:0001000	Abnormality of skin pigmentation	212	ALAS2	ORPHA:75563
HP:0001000	Abnormality of skin pigmentation	8091	HMGA2	ORPHA:94063
HP:0001000	Abnormality of skin pigmentation	23592	LEMD3	ORPHA:94063
HP:0001000	Abnormality of skin pigmentation	2778	GNAS	OMIM:617686
HP:0001000	Abnormality of skin pigmentation	1371	CPOX	OMIM:618892
HP:0001000	Abnormality of skin pigmentation	190	NR0B1	ORPHA:95702
HP:0001000	Abnormality of skin pigmentation	190	NR0B1	OMIM:300200
HP:0001000	Abnormality of skin pigmentation	6638	SNRPN	ORPHA:177907
HP:0001000	Abnormality of skin pigmentation	5498	PPOX	ORPHA:79473
HP:0001000	Abnormality of skin pigmentation	3265	HRAS	OMIM:218040
HP:0001000	Abnormality of skin pigmentation	56244	BTNL2	ORPHA:797
HP:0001000	Abnormality of skin pigmentation	650	BMP2	OMIM:235200
HP:0001000	Abnormality of skin pigmentation	3077	HFE	OMIM:235200
HP:0001000	Abnormality of skin pigmentation	3077	HFE	ORPHA:465508
HP:0001000	Abnormality of skin pigmentation	55131	RBM28	ORPHA:157954
HP:0001000	Abnormality of skin pigmentation	4158	MC2R	OMIM:202200
HP:0001000	Abnormality of skin pigmentation	3043	HBB	ORPHA:231214
HP:0001000	Abnormality of skin pigmentation	3043	HBB	ORPHA:231226
HP:0001000	Abnormality of skin pigmentation	8879	SGPL1	OMIM:617575
HP:0001000	Abnormality of skin pigmentation	55505	NOP10	OMIM:224230
HP:0001000	Abnormality of skin pigmentation	55651	NHP2	OMIM:224230
HP:0001000	Abnormality of skin pigmentation	9401	RECQL4	ORPHA:221016
HP:0001000	Abnormality of skin pigmentation	5293	PIK3CD	ORPHA:221139
HP:0001000	Abnormality of skin pigmentation	90417	KNSTRN	ORPHA:221139
HP:0001000	Abnormality of skin pigmentation	80025	PANK2	OMIM:234200
HP:0001000	Abnormality of skin pigmentation	7036	TFR2	OMIM:604250
HP:0001000	Abnormality of skin pigmentation	2697	GJA1	OMIM:104100
HP:0001000	Abnormality of skin pigmentation	3594	IL12RB1	ORPHA:186
HP:0001000	Abnormality of skin pigmentation	23534	TNPO3	ORPHA:186
HP:0001000	Abnormality of skin pigmentation	3592	IL12A	ORPHA:186
HP:0001000	Abnormality of skin pigmentation	6689	SPIB	ORPHA:186
HP:0001000	Abnormality of skin pigmentation	5450	POU2AF1	ORPHA:186
HP:0001000	Abnormality of skin pigmentation	9966	TNFSF15	ORPHA:186
HP:0001000	Abnormality of skin pigmentation	79258	MMEL1	ORPHA:186
HP:0001000	Abnormality of skin pigmentation	2629	GBA1	OMIM:230800
HP:0001000	Abnormality of skin pigmentation	3718	JAK3	ORPHA:35078
HP:0001000	Abnormality of skin pigmentation	3815	KIT	ORPHA:79455
HP:0001000	Abnormality of skin pigmentation	3815	KIT	OMIM:606764
HP:0001000	Abnormality of skin pigmentation	348	APOE	ORPHA:158029
HP:0001000	Abnormality of skin pigmentation	7390	UROS	OMIM:263700
HP:0001000	Abnormality of skin pigmentation	7390	UROS	ORPHA:79277
HP:0001000	Abnormality of skin pigmentation	654	BMP6	ORPHA:465508
HP:0001000	Abnormality of skin pigmentation	57817	HAMP	OMIM:613313
HP:0001000	Abnormality of skin pigmentation	64127	NOD2	ORPHA:90340
HP:0001000	Abnormality of skin pigmentation	5429	POLH	ORPHA:90342
HP:0001000	Abnormality of skin pigmentation	8086	AAAS	OMIM:231550
HP:0001000	Abnormality of skin pigmentation	9333	TGM5	ORPHA:263534
HP:0001000	Abnormality of skin pigmentation	1475	CSTA	ORPHA:263534
HP:0001000	Abnormality of skin pigmentation	6390	SDHB	OMIM:606764
HP:0001000	Abnormality of skin pigmentation	6391	SDHC	OMIM:606764
HP:0001000	Abnormality of skin pigmentation	3845	KRAS	OMIM:600268
HP:0001000	Abnormality of skin pigmentation	55181	SMG8	OMIM:619268
HP:0001000	Abnormality of skin pigmentation	55367	PIDD1	OMIM:619827
HP:0001000	Abnormality of skin pigmentation	4771	NF2	ORPHA:637
HP:0001000	Abnormality of skin pigmentation	5696	PSMB8	OMIM:256040
HP:0001000	Abnormality of skin pigmentation	2623	GATA1	ORPHA:79277
HP:0001000	Abnormality of skin pigmentation	6232	RPS27	OMIM:617409
HP:0001000	Abnormality of skin pigmentation	64682	ANAPC1	ORPHA:221008
HP:0001000	Abnormality of skin pigmentation	3479	IGF1	ORPHA:73272
HP:0001000	Abnormality of skin pigmentation	8367	H4C5	OMIM:619950
HP:0001000	Abnormality of skin pigmentation	55240	STEAP3	OMIM:615234
HP:0001000	Abnormality of skin pigmentation	55240	STEAP3	ORPHA:300298
HP:0001000	Abnormality of skin pigmentation	55654	TMEM127	OMIM:171300
HP:0001000	Abnormality of skin pigmentation	4149	MAX	OMIM:171300
HP:0001000	Abnormality of skin pigmentation	5979	RET	OMIM:171300
HP:0001000	Abnormality of skin pigmentation	7428	VHL	OMIM:171300
HP:0001000	Abnormality of skin pigmentation	3659	IRF1	OMIM:620668
HP:0001000	Abnormality of skin pigmentation	4076	CAPRIN1	OMIM:620782
HP:0001000	Abnormality of skin pigmentation	6548	SLC9A1	OMIM:616291
HP:0001000	Abnormality of skin pigmentation	197131	UBR1	OMIM:243800
HP:0001000	Abnormality of skin pigmentation	220296	HEPACAM	ORPHA:210548
HP:0001000	Abnormality of skin pigmentation	472	ATM	OMIM:208900
HP:0001000	Abnormality of skin pigmentation	54543	TOMM7	OMIM:620601
HP:0001000	Abnormality of skin pigmentation	7156	TOP3A	OMIM:618097
HP:0001000	Abnormality of skin pigmentation	51729	WBP11	OMIM:619227
HP:0001000	Abnormality of skin pigmentation	57680	CHD8	OMIM:615032
HP:0001000	Abnormality of skin pigmentation	2033	EP300	OMIM:180849
HP:0001000	Abnormality of skin pigmentation	1387	CREBBP	OMIM:180849
HP:0001000	Abnormality of skin pigmentation	10283	CWC27	OMIM:250410
HP:0001000	Abnormality of skin pigmentation	10283	CWC27	ORPHA:166035
HP:0001000	Abnormality of skin pigmentation	8936	WASF1	OMIM:618707
HP:0001000	Abnormality of skin pigmentation	285590	SH3PXD2B	OMIM:249420
HP:0001000	Abnormality of skin pigmentation	5594	MAPK1	OMIM:619087
HP:0001000	Abnormality of skin pigmentation	1028	CDKN1C	ORPHA:397590
HP:0001000	Abnormality of skin pigmentation	5324	PLAG1	ORPHA:397590
HP:0001000	Abnormality of skin pigmentation	9968	MED12	OMIM:300895
HP:0001000	Abnormality of skin pigmentation	4221	MEN1	OMIM:131100
HP:0001000	Abnormality of skin pigmentation	55023	PHIP	OMIM:617991
HP:0001000	Abnormality of skin pigmentation	55023	PHIP	ORPHA:589905
HP:0001000	Abnormality of skin pigmentation	1315	COPB1	OMIM:619255
HP:0001000	Abnormality of skin pigmentation	157570	ESCO2	OMIM:268300
HP:0001000	Abnormality of skin pigmentation	6595	SMARCA2	OMIM:601358
HP:0001000	Abnormality of skin pigmentation	22907	DHX30	OMIM:617804
HP:0001000	Abnormality of skin pigmentation	5426	POLE	OMIM:618336
HP:0001000	Abnormality of skin pigmentation	9898	UBAP2L	OMIM:620494
HP:0001000	Abnormality of skin pigmentation	8085	KMT2D	OMIM:147920
HP:0001000	Abnormality of skin pigmentation	7403	KDM6A	OMIM:147920
HP:0001000	Abnormality of skin pigmentation	5573	PRKAR1A	ORPHA:950
HP:0001000	Abnormality of skin pigmentation	5573	PRKAR1A	OMIM:101800
HP:0001000	Abnormality of skin pigmentation	5144	PDE4D	ORPHA:950
HP:0001000	Abnormality of skin pigmentation	1139	CHRNA7	ORPHA:199318
HP:0001000	Abnormality of skin pigmentation	23512	SUZ12	OMIM:618786
HP:0001000	Abnormality of skin pigmentation	3481	IGF2	OMIM:616489
HP:0001000	Abnormality of skin pigmentation	2261	FGFR3	OMIM:612247
HP:0001000	Abnormality of skin pigmentation	2261	FGFR3	OMIM:162900
HP:0001000	Abnormality of skin pigmentation	3257	HPS1	OMIM:203300
HP:0001000	Abnormality of skin pigmentation	5781	PTPN11	ORPHA:500
HP:0001000	Abnormality of skin pigmentation	5781	PTPN11	ORPHA:648
HP:0001000	Abnormality of skin pigmentation	2263	FGFR2	ORPHA:1555
HP:0001000	Abnormality of skin pigmentation	2263	FGFR2	ORPHA:207
HP:0001000	Abnormality of skin pigmentation	4982	TNFRSF11B	ORPHA:2801
HP:0001000	Abnormality of skin pigmentation	8792	TNFRSF11A	ORPHA:2801
HP:0001000	Abnormality of skin pigmentation	63915	BLOC1S5	OMIM:619172
HP:0001000	Abnormality of skin pigmentation	4920	ROR2	OMIM:268310
HP:0001000	Abnormality of skin pigmentation	5727	PTCH1	ORPHA:377
HP:0001000	Abnormality of skin pigmentation	8643	PTCH2	ORPHA:377
HP:0001000	Abnormality of skin pigmentation	51684	SUFU	ORPHA:377
HP:0001000	Abnormality of skin pigmentation	4784	NFIX	OMIM:602535
HP:0001000	Abnormality of skin pigmentation	2146	EZH2	OMIM:277590
HP:0001000	Abnormality of skin pigmentation	22800	RRAS2	ORPHA:648
HP:0001000	Abnormality of skin pigmentation	867	CBL	ORPHA:648
HP:0001000	Abnormality of skin pigmentation	6237	RRAS	ORPHA:648
HP:0001000	Abnormality of skin pigmentation	22808	MRAS	ORPHA:648
HP:0001000	Abnormality of skin pigmentation	200734	SPRED2	ORPHA:648
HP:0001000	Abnormality of skin pigmentation	6654	SOS1	ORPHA:648
HP:0001000	Abnormality of skin pigmentation	6655	SOS2	ORPHA:648
HP:0001000	Abnormality of skin pigmentation	5922	RASA2	ORPHA:648
HP:0001000	Abnormality of skin pigmentation	2077	ERF	ORPHA:207
HP:0001000	Abnormality of skin pigmentation	60681	FKBP10	ORPHA:1149
HP:0001000	Abnormality of skin pigmentation	10483	SEC23B	ORPHA:201
HP:0001000	Abnormality of skin pigmentation	5728	PTEN	ORPHA:201
HP:0001000	Abnormality of skin pigmentation	6392	SDHD	ORPHA:201
HP:0001000	Abnormality of skin pigmentation	205717	USF3	ORPHA:201
HP:0001000	Abnormality of skin pigmentation	5290	PIK3CA	ORPHA:201
HP:0001000	Abnormality of skin pigmentation	5290	PIK3CA	OMIM:162900
HP:0001000	Abnormality of skin pigmentation	100144748	KLLN	ORPHA:201
HP:0001000	Abnormality of skin pigmentation	7703	PCGF2	OMIM:618371
HP:0001000	Abnormality of skin pigmentation	8726	EED	OMIM:617561
HP:0001000	Abnormality of skin pigmentation	4352	MPL	ORPHA:3319
HP:0001000	Abnormality of skin pigmentation	7066	THPO	ORPHA:3319
HP:0001000	Abnormality of skin pigmentation	1001	CDH3	ORPHA:1573
HP:0001000	Abnormality of skin pigmentation	2200	FBN1	OMIM:616914
HP:0001000	Abnormality of skin pigmentation	6874	TAF4	OMIM:620450
HP:0001000	Abnormality of skin pigmentation	7299	TYR	ORPHA:79434
HP:0001000	Abnormality of skin pigmentation	2068	ERCC2	ORPHA:910
HP:0001000	Abnormality of skin pigmentation	7507	XPA	ORPHA:910
HP:0001000	Abnormality of skin pigmentation	2071	ERCC3	ORPHA:910
HP:0001000	Abnormality of skin pigmentation	7508	XPC	ORPHA:910
HP:0001000	Abnormality of skin pigmentation	1643	DDB2	ORPHA:910
HP:0001000	Abnormality of skin pigmentation	2073	ERCC5	ORPHA:910
HP:0001000	Abnormality of skin pigmentation	2956	MSH6	OMIM:619097
HP:0001000	Abnormality of skin pigmentation	11285	B4GALT7	ORPHA:75496
HP:0001000	Abnormality of skin pigmentation	2074	ERCC6	OMIM:133540
HP:0001000	Abnormality of skin pigmentation	3981	LIG4	ORPHA:235
HP:0001000	Abnormality of skin pigmentation	54888	NSUN2	ORPHA:235
HP:0001000	Abnormality of skin pigmentation	157680	VPS13B	ORPHA:193
HP:0001000	Abnormality of skin pigmentation	64840	PORCN	ORPHA:2092
HP:0001000	Abnormality of skin pigmentation	6711	SPTBN1	OMIM:619475
HP:0001000	Abnormality of skin pigmentation	4308	TRPM1	OMIM:613216
HP:0001000	Abnormality of skin pigmentation	6660	SOX5	ORPHA:626
HP:0001000	Abnormality of skin pigmentation	238	ALK	ORPHA:626
HP:0001000	Abnormality of skin pigmentation	9839	ZEB2	ORPHA:626
HP:0001000	Abnormality of skin pigmentation	4893	NRAS	ORPHA:626
HP:0001000	Abnormality of skin pigmentation	673	BRAF	ORPHA:626
HP:0001000	Abnormality of skin pigmentation	5894	RAF1	ORPHA:626
HP:0001000	Abnormality of skin pigmentation	3425	IDUA	ORPHA:93473
HP:0001000	Abnormality of skin pigmentation	5627	PROS1	ORPHA:743
HP:0001000	Abnormality of skin pigmentation	1235	CCR6	ORPHA:220402
HP:0001000	Abnormality of skin pigmentation	79932	KIAA0319L	ORPHA:220402
HP:0001000	Abnormality of skin pigmentation	1490	CCN2	ORPHA:220402
HP:0001000	Abnormality of skin pigmentation	3663	IRF5	ORPHA:220402
HP:0001000	Abnormality of skin pigmentation	857	CAV1	ORPHA:220402
HP:0001000	Abnormality of skin pigmentation	3123	HLA-DRB1	ORPHA:220402
HP:0001000	Abnormality of skin pigmentation	324	APC	ORPHA:79665
HP:0001000	Abnormality of skin pigmentation	5624	PROC	ORPHA:745
HP:0001000	Abnormality of skin pigmentation	207	AKT1	ORPHA:744
HP:0001000	Abnormality of skin pigmentation	8517	IKBKG	ORPHA:464
HP:0001000	Abnormality of skin pigmentation	8517	IKBKG	OMIM:308300
HP:0001000	Abnormality of skin pigmentation	2316	FLNA	OMIM:300244
HP:0001000	Abnormality of skin pigmentation	374879	ZNF699	OMIM:619488
HP:0001000	Abnormality of skin pigmentation	2175	FANCA	OMIM:227650
HP:0001000	Abnormality of skin pigmentation	2175	FANCA	ORPHA:84
HP:0001000	Abnormality of skin pigmentation	79644	SRD5A3	OMIM:612379
HP:0001000	Abnormality of skin pigmentation	1654	DDX3X	ORPHA:457260
HP:0001000	Abnormality of skin pigmentation	7248	TSC1	ORPHA:538
HP:0001000	Abnormality of skin pigmentation	7249	TSC2	ORPHA:538
HP:0001000	Abnormality of skin pigmentation	488	ATP2A2	ORPHA:218
HP:0001000	Abnormality of skin pigmentation	55135	WRAP53	OMIM:613988
HP:0001000	Abnormality of skin pigmentation	1161	ERCC8	OMIM:216400
HP:0001000	Abnormality of skin pigmentation	1294	COL7A1	ORPHA:79411
HP:0001000	Abnormality of skin pigmentation	7298	TYMS	OMIM:620040
HP:0001000	Abnormality of skin pigmentation	2177	FANCD2	OMIM:227646
HP:0001000	Abnormality of skin pigmentation	2177	FANCD2	ORPHA:84
HP:0001000	Abnormality of skin pigmentation	55612	FERMT1	ORPHA:2908
HP:0001000	Abnormality of skin pigmentation	10484	SEC23A	ORPHA:50814
HP:0001000	Abnormality of skin pigmentation	215	ABCD1	ORPHA:139399
HP:0001000	Abnormality of skin pigmentation	4286	MITF	ORPHA:42665
HP:0001000	Abnormality of skin pigmentation	672	BRCA1	ORPHA:84
HP:0001000	Abnormality of skin pigmentation	10459	MAD2L2	ORPHA:84
HP:0001000	Abnormality of skin pigmentation	7516	XRCC2	ORPHA:84
HP:0001000	Abnormality of skin pigmentation	29089	UBE2T	ORPHA:84
HP:0001000	Abnormality of skin pigmentation	675	BRCA2	ORPHA:84
HP:0001000	Abnormality of skin pigmentation	55120	FANCL	ORPHA:84
HP:0001000	Abnormality of skin pigmentation	2187	FANCB	ORPHA:84
HP:0001000	Abnormality of skin pigmentation	2176	FANCC	ORPHA:84
HP:0001000	Abnormality of skin pigmentation	2178	FANCE	ORPHA:84
HP:0001000	Abnormality of skin pigmentation	2188	FANCF	ORPHA:84
HP:0001000	Abnormality of skin pigmentation	2189	FANCG	ORPHA:84
HP:0001000	Abnormality of skin pigmentation	5888	RAD51	ORPHA:84
HP:0001000	Abnormality of skin pigmentation	5889	RAD51C	ORPHA:84
HP:0001000	Abnormality of skin pigmentation	55159	RFWD3	ORPHA:84
HP:0001000	Abnormality of skin pigmentation	83990	BRIP1	ORPHA:84
HP:0001000	Abnormality of skin pigmentation	57697	FANCM	ORPHA:84
HP:0001000	Abnormality of skin pigmentation	79728	PALB2	ORPHA:84
HP:0001000	Abnormality of skin pigmentation	84464	SLX4	ORPHA:84
HP:0001000	Abnormality of skin pigmentation	2072	ERCC4	ORPHA:84
HP:0001000	Abnormality of skin pigmentation	55215	FANCI	ORPHA:84
HP:0001000	Abnormality of skin pigmentation	28234	SLCO1B3	OMIM:237450
HP:0001000	Abnormality of skin pigmentation	10599	SLCO1B1	OMIM:237450
HP:0001000	Abnormality of skin pigmentation	3909	LAMA3	ORPHA:79402
HP:0001000	Abnormality of skin pigmentation	1308	COL17A1	ORPHA:79402
HP:0001000	Abnormality of skin pigmentation	3918	LAMC2	ORPHA:79402
HP:0001000	Abnormality of skin pigmentation	3691	ITGB4	ORPHA:79402
HP:0001000	Abnormality of skin pigmentation	3914	LAMB3	ORPHA:79402
HP:0001000	Abnormality of skin pigmentation	54539	NDUFB11	ORPHA:2556
HP:0001000	Abnormality of skin pigmentation	1349	COX7B	ORPHA:2556
HP:0001000	Abnormality of skin pigmentation	3052	HCCS	ORPHA:2556
HP:0001000	Abnormality of skin pigmentation	117581	TWIST2	ORPHA:920
HP:0001000	Abnormality of skin pigmentation	3081	HGD	ORPHA:56
HP:0001000	Abnormality of skin pigmentation	1281	COL3A1	ORPHA:286
HP:0001000	Abnormality of skin pigmentation	9184	BUB3	ORPHA:1052
HP:0001000	Abnormality of skin pigmentation	699	BUB1	ORPHA:1052
HP:0001000	Abnormality of skin pigmentation	9702	CEP57	ORPHA:1052
HP:0001000	Abnormality of skin pigmentation	9319	TRIP13	ORPHA:1052
HP:0001000	Abnormality of skin pigmentation	701	BUB1B	ORPHA:1052
HP:0001000	Abnormality of skin pigmentation	5277	PIGA	OMIM:300868
HP:0001000	Abnormality of skin pigmentation	5073	PARN	OMIM:616353
HP:0001000	Abnormality of skin pigmentation	85378	TUBGCP6	OMIM:251270
HP:0001000	Abnormality of skin pigmentation	7189	TRAF6	ORPHA:1810
HP:0001000	Abnormality of skin pigmentation	128178	EDARADD	ORPHA:1810
HP:0001000	Abnormality of skin pigmentation	126695	KDF1	ORPHA:1810
HP:0001000	Abnormality of skin pigmentation	10913	EDAR	ORPHA:1810
HP:0001000	Abnormality of skin pigmentation	1497	CTNS	OMIM:219800
HP:0001000	Abnormality of skin pigmentation	875	CBS	ORPHA:394
HP:0001000	Abnormality of skin pigmentation	875	CBS	OMIM:236200
HP:0001000	Abnormality of skin pigmentation	5122	PCSK1	ORPHA:71528
HP:0001000	Abnormality of skin pigmentation	7355	SLC35A2	ORPHA:356961
HP:0001000	Abnormality of skin pigmentation	5443	POMC	ORPHA:71526
HP:0001000	Abnormality of skin pigmentation	84942	WDR73	OMIM:251300
HP:0001000	Abnormality of skin pigmentation	1638	DCT	OMIM:619165
HP:0001000	Abnormality of skin pigmentation	6492	SIM1	ORPHA:398079
HP:0001000	Abnormality of skin pigmentation	28960	DCPS	OMIM:616459
HP:0001000	Abnormality of skin pigmentation	1130	LYST	OMIM:214500
HP:0001000	Abnormality of skin pigmentation	1130	LYST	ORPHA:167
HP:0001000	Abnormality of skin pigmentation	5053	PAH	ORPHA:79254
HP:0001000	Abnormality of skin pigmentation	79158	GNPTAB	OMIM:252500
HP:0001000	Abnormality of skin pigmentation	7337	UBE3A	ORPHA:98794
HP:0001000	Abnormality of skin pigmentation	7337	UBE3A	ORPHA:98795
HP:0001000	Abnormality of skin pigmentation	7337	UBE3A	OMIM:105830
HP:0001000	Abnormality of skin pigmentation	7337	UBE3A	ORPHA:411511
HP:0001000	Abnormality of skin pigmentation	7337	UBE3A	ORPHA:411515
HP:0001000	Abnormality of skin pigmentation	4948	OCA2	ORPHA:98794
HP:0001000	Abnormality of skin pigmentation	4948	OCA2	ORPHA:177904
HP:0001000	Abnormality of skin pigmentation	4948	OCA2	ORPHA:177901
HP:0001000	Abnormality of skin pigmentation	4948	OCA2	ORPHA:98754
HP:0001000	Abnormality of skin pigmentation	4948	OCA2	OMIM:203200
HP:0001000	Abnormality of skin pigmentation	4948	OCA2	ORPHA:79432
HP:0001000	Abnormality of skin pigmentation	4692	NDN	ORPHA:177904
HP:0001000	Abnormality of skin pigmentation	4692	NDN	ORPHA:177901
HP:0001000	Abnormality of skin pigmentation	4692	NDN	ORPHA:177910
HP:0001000	Abnormality of skin pigmentation	4692	NDN	ORPHA:98754
HP:0001000	Abnormality of skin pigmentation	54551	MAGEL2	ORPHA:177904
HP:0001000	Abnormality of skin pigmentation	54551	MAGEL2	ORPHA:177901
HP:0001000	Abnormality of skin pigmentation	54551	MAGEL2	ORPHA:398069
HP:0001000	Abnormality of skin pigmentation	54551	MAGEL2	ORPHA:177910
HP:0001000	Abnormality of skin pigmentation	54551	MAGEL2	ORPHA:98754
HP:0001000	Abnormality of skin pigmentation	284058	KANSL1	ORPHA:363958
HP:0001000	Abnormality of skin pigmentation	284058	KANSL1	ORPHA:363965
HP:0001000	Abnormality of skin pigmentation	114034	TOE1	OMIM:614969
HP:0001000	Abnormality of skin pigmentation	26258	BLOC1S6	OMIM:614171
HP:0001000	Abnormality of skin pigmentation	1186	CLCN7	OMIM:618541
HP:0001000	Abnormality of skin pigmentation	54800	KLHL24	OMIM:617294
HP:0001000	Abnormality of skin pigmentation	538	ATP7A	OMIM:309400
HP:0001000	Abnormality of skin pigmentation	4644	MYO5A	ORPHA:33445
HP:0001000	Abnormality of skin pigmentation	4644	MYO5A	OMIM:214450
HP:0001000	Abnormality of skin pigmentation	84343	HPS3	OMIM:614072
HP:0001000	Abnormality of skin pigmentation	79803	HPS6	OMIM:614075
HP:0001000	Abnormality of skin pigmentation	641	BLM	OMIM:210900
HP:0001000	Abnormality of skin pigmentation	641	BLM	ORPHA:125
HP:0001000	Abnormality of skin pigmentation	55717	WDR11	OMIM:620237
HP:0001000	Abnormality of skin pigmentation	28956	LAMTOR2	OMIM:610798
HP:0001000	Abnormality of skin pigmentation	57724	EPG5	OMIM:242840
HP:0001000	Abnormality of skin pigmentation	57724	EPG5	ORPHA:1493
HP:0001000	Abnormality of skin pigmentation	7030	TFE3	OMIM:301066
HP:0001000	Abnormality of skin pigmentation	5873	RAB27A	OMIM:607624
HP:0001000	Abnormality of skin pigmentation	26503	SLC17A5	OMIM:269920
HP:0001000	Abnormality of skin pigmentation	4157	MC1R	OMIM:203200
HP:0001000	Abnormality of skin pigmentation	4157	MC1R	ORPHA:79432
HP:0001000	Abnormality of skin pigmentation	10195	ALG3	ORPHA:79321
HP:0001000	Abnormality of skin pigmentation	4292	MLH1	OMIM:276300
HP:0001000	Abnormality of skin pigmentation	3991	LIPE	OMIM:615980
HP:0001000	Abnormality of skin pigmentation	4254	KITLG	OMIM:619947
HP:0001000	Abnormality of skin pigmentation	57194	ATP10A	ORPHA:411515
HP:0001000	Abnormality of skin pigmentation	7306	TYRP1	ORPHA:79433
HP:0001000	Abnormality of skin pigmentation	51151	SLC45A2	ORPHA:79435
HP:0001000	Abnormality of skin pigmentation	11152	WDR45	OMIM:615179
HP:0001000	Abnormality of skin pigmentation	83938	LRMDA	OMIM:615179
HP:0001000	Abnormality of skin pigmentation	89781	HPS4	OMIM:614073
HP:0001000	Abnormality of skin pigmentation	11234	HPS5	OMIM:614074
HP:0001000	Abnormality of skin pigmentation	84062	DTNBP1	OMIM:614076
HP:0001000	Abnormality of skin pigmentation	23141	ANKLE2	OMIM:616681
HP:0001000	Abnormality of skin pigmentation	112858	TP53RK	OMIM:617730
HP:0001000	Abnormality of skin pigmentation	23135	KDM6B	OMIM:618505
HP:0001000	Abnormality of skin pigmentation	60	ACTB	ORPHA:64755
HP:0001000	Abnormality of skin pigmentation	2186	BPTF	OMIM:148000
HP:0001000	Abnormality of skin pigmentation	3569	IL6	OMIM:148000
HP:0001000	Abnormality of skin pigmentation	56916	SMARCAD1	OMIM:129200
HP:0001000	Abnormality of skin pigmentation	2067	ERCC1	ORPHA:90322
HP:0001000	Abnormality of skin pigmentation	50485	SMARCAL1	ORPHA:1830
HP:0001000	Abnormality of skin pigmentation	50485	SMARCAL1	OMIM:242900
HP:0001000	Abnormality of skin pigmentation	7132	TNFRSF1A	ORPHA:32960
HP:0001000	Abnormality of skin pigmentation	1536	CYBB	ORPHA:379
HP:0001000	Abnormality of skin pigmentation	4688	NCF2	ORPHA:379
HP:0001000	Abnormality of skin pigmentation	1535	CYBA	ORPHA:379
HP:0001000	Abnormality of skin pigmentation	4689	NCF4	ORPHA:379
HP:0001000	Abnormality of skin pigmentation	653361	NCF1	ORPHA:379
HP:0001000	Abnormality of skin pigmentation	79415	CYBC1	ORPHA:379
HP:0001000	Abnormality of skin pigmentation	8869	ST3GAL5	OMIM:609056
HP:0001000	Abnormality of skin pigmentation	1663	DDX11	OMIM:613398
HP:0001000	Abnormality of skin pigmentation	6794	STK11	OMIM:175200
HP:0001000	Abnormality of skin pigmentation	5339	PLEC	ORPHA:79401
HP:0001000	Abnormality of skin pigmentation	4313	MMP2	OMIM:259600
HP:0001000	Abnormality of skin pigmentation	64421	DCLRE1C	ORPHA:275
HP:0001000	Abnormality of skin pigmentation	4558	MT-TF	ORPHA:550
HP:0001000	Abnormality of skin pigmentation	4572	MT-TQ	ORPHA:550
HP:0001000	Abnormality of skin pigmentation	4512	MT-CO1	ORPHA:550
HP:0001000	Abnormality of skin pigmentation	4513	MT-CO2	ORPHA:550
HP:0001000	Abnormality of skin pigmentation	4514	MT-CO3	ORPHA:550
HP:0001000	Abnormality of skin pigmentation	4578	MT-TW	ORPHA:550
HP:0001000	Abnormality of skin pigmentation	4540	MT-ND5	ORPHA:550
HP:0001000	Abnormality of skin pigmentation	4541	MT-ND6	ORPHA:550
HP:0001000	Abnormality of skin pigmentation	4535	MT-ND1	ORPHA:550
HP:0001000	Abnormality of skin pigmentation	4538	MT-ND4	ORPHA:550
HP:0001000	Abnormality of skin pigmentation	4567	MT-TL1	ORPHA:550
HP:0001000	Abnormality of skin pigmentation	4574	MT-TS1	ORPHA:550
HP:0001000	Abnormality of skin pigmentation	4575	MT-TS2	ORPHA:550
HP:0001000	Abnormality of skin pigmentation	4564	MT-TH	ORPHA:550
HP:0001000	Abnormality of skin pigmentation	54	ACP5	OMIM:607944
HP:0001000	Abnormality of skin pigmentation	54	ACP5	ORPHA:1855
HP:0001000	Abnormality of skin pigmentation	22861	NLRP1	OMIM:606579
HP:0001000	Abnormality of skin pigmentation	4791	NFKB2	ORPHA:293978
HP:0001000	Abnormality of skin pigmentation	326	AIRE	OMIM:240300
HP:0001000	Abnormality of skin pigmentation	847	CAT	ORPHA:926
HP:0001000	Abnormality of skin pigmentation	5336	PLCG2	OMIM:614468
HP:0001000	Abnormality of skin pigmentation	987	LRBA	OMIM:614700
HP:0001000	Abnormality of skin pigmentation	55806	HR	ORPHA:701
HP:0001000	Abnormality of skin pigmentation	23126	POGZ	ORPHA:468678
HP:0001000	Abnormality of skin pigmentation	25778	DSTYK	ORPHA:101003
HP:0001000	Abnormality of skin pigmentation	25778	DSTYK	OMIM:270750
HP:0001000	Abnormality of skin pigmentation	27022	FOXD3	OMIM:607836
HP:0001000	Abnormality of skin pigmentation	7852	CXCR4	ORPHA:51636
HP:0001000	Abnormality of skin pigmentation	28755	TRAC	OMIM:615387
HP:0001000	Abnormality of skin pigmentation	355	FAS	ORPHA:3437
HP:0001000	Abnormality of skin pigmentation	26191	PTPN22	ORPHA:3437
HP:0001000	Abnormality of skin pigmentation	56259	CTNNBL1	OMIM:619846
HP:0001000	Abnormality of skin pigmentation	868	CBLB	OMIM:620430
HP:0001000	Abnormality of skin pigmentation	23065	EMC1	ORPHA:480898
HP:0001000	Abnormality of skin pigmentation	11322	TMC6	ORPHA:302
HP:0001000	Abnormality of skin pigmentation	3574	IL7	ORPHA:302
HP:0001000	Abnormality of skin pigmentation	147138	TMC8	ORPHA:302
HP:0001000	Abnormality of skin pigmentation	10519	CIB1	ORPHA:302
HP:0001000	Abnormality of skin pigmentation	6925	TCF4	ORPHA:2896
HP:0001000	Abnormality of skin pigmentation	6663	SOX10	OMIM:613266
HP:0001000	Abnormality of skin pigmentation	6663	SOX10	OMIM:609136
HP:0001000	Abnormality of skin pigmentation	6663	SOX10	ORPHA:895
HP:0001000	Abnormality of skin pigmentation	6663	SOX10	ORPHA:163746
HP:0001000	Abnormality of skin pigmentation	6663	SOX10	OMIM:611584
HP:0001000	Abnormality of skin pigmentation	1908	EDN3	OMIM:613265
HP:0001000	Abnormality of skin pigmentation	6608	SMO	ORPHA:1553
HP:0001000	Abnormality of skin pigmentation	1910	EDNRB	OMIM:277580
HP:0001000	Abnormality of skin pigmentation	1910	EDNRB	ORPHA:895
HP:0001000	Abnormality of skin pigmentation	6591	SNAI2	ORPHA:2884
HP:0001000	Abnormality of skin pigmentation	6591	SNAI2	ORPHA:895
HP:0001000	Abnormality of skin pigmentation	695	BTK	ORPHA:47
HP:0001000	Abnormality of skin pigmentation	5077	PAX3	ORPHA:894
HP:0001000	Abnormality of skin pigmentation	5077	PAX3	OMIM:148820
HP:0001000	Abnormality of skin pigmentation	5116	PCNT	ORPHA:2637
HP:0001000	Abnormality of skin pigmentation	2581	GALC	ORPHA:206436
HP:0001000	Abnormality of skin pigmentation	5660	PSAP	ORPHA:206436
HP:0001000	Abnormality of skin pigmentation	1312	COMT	ORPHA:567
HP:0001000	Abnormality of skin pigmentation	221037	JMJD1C	ORPHA:567
HP:0001000	Abnormality of skin pigmentation	2812	GP1BB	ORPHA:567
HP:0001000	Abnormality of skin pigmentation	6239	RREB1	ORPHA:567
HP:0001000	Abnormality of skin pigmentation	6899	TBX1	ORPHA:567
HP:0001000	Abnormality of skin pigmentation	7290	HIRA	ORPHA:567
HP:0001000	Abnormality of skin pigmentation	9632	SEC24C	ORPHA:567
HP:0001000	Abnormality of skin pigmentation	7353	UFD1	ORPHA:567
HP:0001000	Abnormality of skin pigmentation	421	ARVCF	ORPHA:567
HP:0001000	Abnormality of skin pigmentation	80169	CTC1	ORPHA:1775
HP:0001000	Abnormality of skin pigmentation	79650	USB1	ORPHA:1775
HP:0001000	Abnormality of skin pigmentation	4869	NPM1	ORPHA:1775
HP:0001000	Abnormality of skin pigmentation	7012	TERC	ORPHA:1775
HP:0001000	Abnormality of skin pigmentation	2475	MTOR	ORPHA:457485
HP:0001000	Abnormality of skin pigmentation	84168	ANTXR1	ORPHA:2067
HP:0001000	Abnormality of skin pigmentation	1075	CTSC	ORPHA:678
HP:0001000	Abnormality of skin pigmentation	50506	DUOX2	ORPHA:226316
HP:0001000	Abnormality of skin pigmentation	84946	LTV1	OMIM:620199
HP:0001000	Abnormality of skin pigmentation	3248	HPGD	ORPHA:1525
HP:0001000	Abnormality of skin pigmentation	1896	EDA	OMIM:305100
HP:0001000	Abnormality of skin pigmentation	56992	KIF15	ORPHA:261323
HP:0001000	Abnormality of skin pigmentation	54345	SOX18	OMIM:137940
HP:0001000	Abnormality of skin pigmentation	4763	NF1	OMIM:162200
HP:0001000	Abnormality of skin pigmentation	4763	NF1	OMIM:162210
HP:0001000	Abnormality of skin pigmentation	4763	NF1	ORPHA:97685
HP:0001000	Abnormality of skin pigmentation	57654	UVSSA	OMIM:614640
HP:0001000	Abnormality of skin pigmentation	161742	SPRED1	OMIM:611431
HP:0001000	Abnormality of skin pigmentation	7994	KAT6A	OMIM:616268
HP:0001000	Abnormality of skin pigmentation	4683	NBN	ORPHA:647
HP:0001000	Abnormality of skin pigmentation	8943	AP3D1	ORPHA:54
HP:0001000	Abnormality of skin pigmentation	4935	GPR143	ORPHA:54
HP:0001000	Abnormality of skin pigmentation	10058	ABCB6	ORPHA:241
HP:0001000	Abnormality of skin pigmentation	23328	SASH1	OMIM:618373
HP:0001000	Abnormality of skin pigmentation	5500	PPP1CB	OMIM:617506
HP:0001000	Abnormality of skin pigmentation	8314	BAP1	ORPHA:618
HP:0001000	Abnormality of skin pigmentation	1019	CDK4	ORPHA:618
HP:0001000	Abnormality of skin pigmentation	4255	MGMT	ORPHA:618
HP:0001000	Abnormality of skin pigmentation	54386	TERF2IP	ORPHA:618
HP:0001000	Abnormality of skin pigmentation	65057	ACD	ORPHA:618
HP:0001000	Abnormality of skin pigmentation	1029	CDKN2A	ORPHA:618
HP:0001000	Abnormality of skin pigmentation	7015	TERT	ORPHA:618
HP:0001000	Abnormality of skin pigmentation	25913	POT1	ORPHA:618
HP:0001000	Abnormality of skin pigmentation	1030	CDKN2B	ORPHA:618
HP:0001000	Abnormality of skin pigmentation	8815	BANF1	OMIM:614008
HP:0001000	Abnormality of skin pigmentation	9419	CRIPT	OMIM:615789
HP:0001000	Abnormality of skin pigmentation	50940	PDE11A	ORPHA:1359
HP:0001000	Abnormality of skin pigmentation	10682	EBP	ORPHA:401973
HP:0001000	Abnormality of skin pigmentation	10682	EBP	OMIM:300960
HP:0001000	Abnormality of skin pigmentation	10060	ABCC9	OMIM:619719
HP:0001000	Abnormality of skin pigmentation	778	CACNA1F	OMIM:300600
HP:0001000	Abnormality of skin pigmentation	1027	CDKN1B	ORPHA:652
HP:0001000	Abnormality of skin pigmentation	1026	CDKN1A	ORPHA:652
HP:0001000	Abnormality of skin pigmentation	1031	CDKN2C	ORPHA:652
HP:0001000	Abnormality of skin pigmentation	57167	SALL4	ORPHA:233
HP:0001000	Abnormality of skin pigmentation	9935	MAFB	ORPHA:233
HP:0001000	Abnormality of skin pigmentation	1123	CHN1	ORPHA:233
HP:0001000	Abnormality of skin pigmentation	1493	CTLA4	ORPHA:3162
HP:0001000	Abnormality of skin pigmentation	1493	CTLA4	ORPHA:2584
HP:0001000	Abnormality of skin pigmentation	940	CD28	ORPHA:3162
HP:0001000	Abnormality of skin pigmentation	940	CD28	ORPHA:2584
HP:0001000	Abnormality of skin pigmentation	7133	TNFRSF1B	ORPHA:3162
HP:0001000	Abnormality of skin pigmentation	7133	TNFRSF1B	ORPHA:2584
HP:0001000	Abnormality of skin pigmentation	4854	NOTCH3	ORPHA:2591
HP:0001000	Abnormality of skin pigmentation	5159	PDGFRB	ORPHA:2591
HP:0001000	Abnormality of skin pigmentation	6389	SDHA	ORPHA:44890
HP:0001000	Abnormality of skin pigmentation	5156	PDGFRA	ORPHA:44890
HP:0001000	Abnormality of skin pigmentation	340024	SLC6A19	ORPHA:2116
HP:0001000	Abnormality of skin pigmentation	57393	CLTRN	ORPHA:2116
HP:0001000	Abnormality of skin pigmentation	2767	GNA11	ORPHA:428
HP:0001000	Abnormality of skin pigmentation	846	CASR	ORPHA:428
HP:0001000	Abnormality of skin pigmentation	1776	DNASE1L3	ORPHA:36412
HP:0001000	Abnormality of skin pigmentation	2776	GNAQ	ORPHA:624
HP:0001000	Abnormality of skin pigmentation	55719	SLF2	OMIM:620184
HP:0001000	Abnormality of skin pigmentation	79092	CARD14	ORPHA:2897
HP:0001000	Abnormality of skin pigmentation	203068	TUBB	ORPHA:2505
HP:0001000	Abnormality of skin pigmentation	10982	MAPRE2	ORPHA:2505
HP:0001000	Abnormality of skin pigmentation	2707	GJB3	ORPHA:317
HP:0001000	Abnormality of skin pigmentation	2531	KDSR	ORPHA:317
HP:0001000	Abnormality of skin pigmentation	127534	GJB4	ORPHA:317
HP:0001000	Abnormality of skin pigmentation	3930	LBR	ORPHA:779
HP:0001000	Abnormality of skin pigmentation	11005	SPINK5	ORPHA:634
HP:0001000	Abnormality of skin pigmentation	26277	TINF2	OMIM:613990
HP:0001000	Abnormality of skin pigmentation	2783	GNB2	OMIM:619503
HP:0001000	Abnormality of skin pigmentation	6418	SET	OMIM:618106
HP:0001000	Abnormality of skin pigmentation	5932	RBBP8	OMIM:606744
HP:0001000	Abnormality of skin pigmentation	64864	RFX7	OMIM:620330
HP:0001000	Abnormality of skin pigmentation	5604	MAP2K1	ORPHA:1340
HP:0001000	Abnormality of skin pigmentation	5605	MAP2K2	ORPHA:1340
HP:0001000	Abnormality of skin pigmentation	3643	INSR	ORPHA:2297
HP:0001000	Abnormality of skin pigmentation	5080	PAX6	ORPHA:2253
HP:0001000	Abnormality of skin pigmentation	51750	RTEL1	ORPHA:3322
HP:0001000	Abnormality of skin pigmentation	29926	GMPPA	ORPHA:869
HP:0001000	Abnormality of skin pigmentation	60684	TRAPPC11	ORPHA:869
HP:0001000	Abnormality of skin pigmentation	83550	GPR101	ORPHA:963
HP:0001000	Abnormality of skin pigmentation	9049	AIP	ORPHA:963
HP:0001000	Abnormality of skin pigmentation	6770	STAR	ORPHA:361
HP:0001000	Abnormality of skin pigmentation	23530	NNT	ORPHA:361
HP:0001000	Abnormality of skin pigmentation	10457	GPNMB	OMIM:617920
HP:0001000	Abnormality of skin pigmentation	224	ALDH3A2	ORPHA:816
HP:0001000	Abnormality of skin pigmentation	526	ATP6V1B2	ORPHA:3473
HP:0001000	Abnormality of skin pigmentation	3756	KCNH1	ORPHA:3473
HP:0001000	Abnormality of skin pigmentation	3782	KCNN3	ORPHA:3473
HP:0001000	Abnormality of skin pigmentation	3662	IRF4	ORPHA:3452
HP:0001000	Abnormality of skin pigmentation	23556	PIGN	ORPHA:280633
HP:0001000	Abnormality of skin pigmentation	91039	DPP9	OMIM:620331
HP:0001000	Abnormality of skin pigmentation	103	ADAR	OMIM:127400
HP:0001000	Abnormality of skin pigmentation	7543	ZFX	OMIM:301118
HP:0001000	Abnormality of skin pigmentation	79083	MLPH	ORPHA:79478
HP:0001000	Abnormality of skin pigmentation	8239	USP9X	ORPHA:480880
HP:0001000	Abnormality of skin pigmentation	6611	SMS	ORPHA:3063
HP:0001000	Abnormality of skin pigmentation	7319	UBE2A	ORPHA:163956
HP:0001000	Abnormality of skin pigmentation	388552	BLOC1S3	OMIM:614077
HP:0001000	Abnormality of skin pigmentation	9652	SKIC3	OMIM:222470
HP:0001000	Abnormality of skin pigmentation	9652	SKIC3	ORPHA:84064
HP:0001000	Abnormality of skin pigmentation	8882	ZPR1	OMIM:619321
HP:0001000	Abnormality of skin pigmentation	283652	SLC24A5	OMIM:113750
HP:0001000	Abnormality of skin pigmentation	6499	SKIC2	ORPHA:84064
HP:0001000	Abnormality of skin pigmentation	4952	OCRL	ORPHA:534
HP:0001000	Abnormality of skin pigmentation	100033413	SNORD116-1	OMIM:176270
HP:0001000	Abnormality of skin pigmentation	8924	HERC2	OMIM:176270
HP:0001000	Abnormality of skin pigmentation	23742	NPAP1	OMIM:176270
HP:0001000	Abnormality of skin pigmentation	338433	SNORD115-1	OMIM:176270
HP:0001000	Abnormality of skin pigmentation	7681	MKRN3	OMIM:176270
HP:0001000	Abnormality of skin pigmentation	145624	PWAR1	OMIM:176270
HP:0001000	Abnormality of skin pigmentation	3653	IPW	OMIM:176270
HP:0001000	Abnormality of skin pigmentation	791114	PWRN1	OMIM:176270
HP:0001000	Abnormality of skin pigmentation	8546	AP3B1	OMIM:608233
HP:0001000	Abnormality of skin pigmentation	2260	FGFR1	OMIM:613001
HP:0001000	Abnormality of skin pigmentation	4436	MSH2	OMIM:619096
HP:0001000	Abnormality of skin pigmentation	5980	REV3L	ORPHA:570
HP:0001000	Abnormality of skin pigmentation	23129	PLXND1	ORPHA:570
HP:0001000	Abnormality of skin pigmentation	11253	MAN1B1	ORPHA:397941
HP:0001000	Abnormality of skin pigmentation	8242	KDM5C	ORPHA:85279
HP:0001000	Abnormality of skin pigmentation	5395	PMS2	OMIM:619101
HP:0001000	Abnormality of skin pigmentation	473	RERE	OMIM:616975
HP:0001000	Abnormality of skin pigmentation	151188	ARL6IP6	ORPHA:1556
HP:0001000	Abnormality of skin pigmentation	404672	GTF2H5	ORPHA:33364
HP:0001000	Abnormality of skin pigmentation	833	CARS1	ORPHA:33364
HP:0001000	Abnormality of skin pigmentation	7737	RNF113A	ORPHA:33364
HP:0001000	Abnormality of skin pigmentation	136647	MPLKIP	ORPHA:33364
HP:0001000	Abnormality of skin pigmentation	6897	TARS1	ORPHA:33364
HP:0001000	Abnormality of skin pigmentation	16	AARS1	ORPHA:33364
HP:0001000	Abnormality of skin pigmentation	2961	GTF2E2	ORPHA:33364
HP:0001000	Abnormality of skin pigmentation	4358	MPV17	OMIM:256810
HP:0001000	Abnormality of skin pigmentation	6117	RPA1	OMIM:619767
HP:0001000	Abnormality of skin pigmentation	5422	POLA1	OMIM:301220
HP:0001000	Abnormality of skin pigmentation	667	DST	OMIM:614653
HP:0001000	Abnormality of skin pigmentation	3977	LIFR	OMIM:601559
HP:0001000	Abnormality of skin pigmentation	56983	POGLUT1	ORPHA:79145
HP:0001000	Abnormality of skin pigmentation	23509	POFUT1	ORPHA:79145
HP:0001000	Abnormality of skin pigmentation	55851	PSENEN	ORPHA:79145
HP:0001000	Abnormality of skin pigmentation	3458	IFNG	OMIM:613254
HP:0001000	Abnormality of skin pigmentation	3458	IFNG	ORPHA:805
HP:0001000	Abnormality of skin pigmentation	134218	DNAJC21	OMIM:617052
HP:0001000	Abnormality of skin pigmentation	374969	SVBP	OMIM:618569
HP:0001000	Abnormality of skin pigmentation	715	C1R	OMIM:130080
HP:0001000	Abnormality of skin pigmentation	716	C1S	OMIM:617174
HP:0001001	Abnormality of subcutaneous fat tissue	9719	ADAMTSL2	ORPHA:1901
HP:0001001	Abnormality of subcutaneous fat tissue	9509	ADAMTS2	ORPHA:1901
HP:0001001	Abnormality of subcutaneous fat tissue	1278	COL1A2	ORPHA:1899
HP:0001001	Abnormality of subcutaneous fat tissue	1277	COL1A1	ORPHA:1899
HP:0001001	Abnormality of subcutaneous fat tissue	79053	ALG8	ORPHA:79325
HP:0001001	Abnormality of subcutaneous fat tissue	5728	PTEN	OMIM:158350
HP:0001001	Abnormality of subcutaneous fat tissue	5728	PTEN	ORPHA:2969
HP:0001001	Abnormality of subcutaneous fat tissue	5728	PTEN	ORPHA:79076
HP:0001001	Abnormality of subcutaneous fat tissue	4221	MEN1	OMIM:131100
HP:0001001	Abnormality of subcutaneous fat tissue	2260	FGFR1	OMIM:613001
HP:0001001	Abnormality of subcutaneous fat tissue	5290	PIK3CA	OMIM:615108
HP:0001001	Abnormality of subcutaneous fat tissue	207	AKT1	OMIM:615109
HP:0001001	Abnormality of subcutaneous fat tissue	657	BMPR1A	ORPHA:79076
HP:0001001	Abnormality of subcutaneous fat tissue	1027	CDKN1B	ORPHA:276152
HP:0001001	Abnormality of subcutaneous fat tissue	6497	SKI	OMIM:182212
HP:0001001	Abnormality of subcutaneous fat tissue	8260	NAA10	OMIM:300855
HP:0001001	Abnormality of subcutaneous fat tissue	54345	SOX18	OMIM:137940
HP:0001001	Abnormality of subcutaneous fat tissue	2271	FH	OMIM:606812
HP:0001001	Abnormality of subcutaneous fat tissue	2074	ERCC6	OMIM:133540
HP:0001001	Abnormality of subcutaneous fat tissue	4000	LMNA	ORPHA:280365
HP:0001001	Abnormality of subcutaneous fat tissue	4000	LMNA	OMIM:151660
HP:0001001	Abnormality of subcutaneous fat tissue	4000	LMNA	OMIM:248370
HP:0001001	Abnormality of subcutaneous fat tissue	5295	PIK3R1	OMIM:269880
HP:0001001	Abnormality of subcutaneous fat tissue	8367	H4C5	OMIM:619950
HP:0001001	Abnormality of subcutaneous fat tissue	2200	FBN1	OMIM:154700
HP:0001001	Abnormality of subcutaneous fat tissue	2200	FBN1	OMIM:616914
HP:0001001	Abnormality of subcutaneous fat tissue	26580	BSCL2	OMIM:269700
HP:0001001	Abnormality of subcutaneous fat tissue	26580	BSCL2	ORPHA:363400
HP:0001001	Abnormality of subcutaneous fat tissue	7040	TGFB1	OMIM:131300
HP:0001001	Abnormality of subcutaneous fat tissue	29957	SLC25A24	OMIM:612289
HP:0001001	Abnormality of subcutaneous fat tissue	29957	SLC25A24	ORPHA:2963
HP:0001001	Abnormality of subcutaneous fat tissue	3643	INSR	ORPHA:508
HP:0001001	Abnormality of subcutaneous fat tissue	3643	INSR	ORPHA:769
HP:0001001	Abnormality of subcutaneous fat tissue	857	CAV1	OMIM:612526
HP:0001001	Abnormality of subcutaneous fat tissue	857	CAV1	OMIM:606721
HP:0001001	Abnormality of subcutaneous fat tissue	11128	POLR3A	OMIM:264090
HP:0001001	Abnormality of subcutaneous fat tissue	11128	POLR3A	ORPHA:3455
HP:0001001	Abnormality of subcutaneous fat tissue	256297	PTF1A	OMIM:609069
HP:0001001	Abnormality of subcutaneous fat tissue	10555	AGPAT2	OMIM:608594
HP:0001001	Abnormality of subcutaneous fat tissue	5346	PLIN1	ORPHA:280356
HP:0001001	Abnormality of subcutaneous fat tissue	5468	PPARG	OMIM:604367
HP:0001001	Abnormality of subcutaneous fat tissue	221496	LEMD2	OMIM:619322
HP:0001001	Abnormality of subcutaneous fat tissue	6514	SLC2A2	OMIM:227810
HP:0001001	Abnormality of subcutaneous fat tissue	51305	KCNK9	OMIM:612292
HP:0001001	Abnormality of subcutaneous fat tissue	1594	CYP27B1	OMIM:264700
HP:0001001	Abnormality of subcutaneous fat tissue	7156	TOP3A	OMIM:618097
HP:0001001	Abnormality of subcutaneous fat tissue	7043	TGFB3	OMIM:615582
HP:0001001	Abnormality of subcutaneous fat tissue	523	ATP6V1A	OMIM:617403
HP:0001001	Abnormality of subcutaneous fat tissue	529	ATP6V1E1	OMIM:617402
HP:0001001	Abnormality of subcutaneous fat tissue	55131	RBM28	OMIM:612079
HP:0001001	Abnormality of subcutaneous fat tissue	2783	GNB2	OMIM:619503
HP:0001001	Abnormality of subcutaneous fat tissue	3480	IGF1R	OMIM:270450
HP:0001001	Abnormality of subcutaneous fat tissue	1161	ERCC8	OMIM:216400
HP:0001001	Abnormality of subcutaneous fat tissue	3763	KCNJ6	OMIM:614098
HP:0001001	Abnormality of subcutaneous fat tissue	10269	ZMPSTE24	OMIM:608612
HP:0001001	Abnormality of subcutaneous fat tissue	26227	PHGDH	OMIM:256520
HP:0001001	Abnormality of subcutaneous fat tissue	5373	PMM2	ORPHA:79318
HP:0001001	Abnormality of subcutaneous fat tissue	5373	PMM2	OMIM:212065
HP:0001001	Abnormality of subcutaneous fat tissue	23545	ATP6V0A2	ORPHA:357074
HP:0001001	Abnormality of subcutaneous fat tissue	79718	TBL1XR1	ORPHA:487825
HP:0001001	Abnormality of subcutaneous fat tissue	5566	PRKACA	OMIM:615830
HP:0001001	Abnormality of subcutaneous fat tissue	79798	ARMC5	ORPHA:189427
HP:0001001	Abnormality of subcutaneous fat tissue	23028	KDM1A	ORPHA:189427
HP:0001001	Abnormality of subcutaneous fat tissue	2778	GNAS	ORPHA:189427
HP:0001001	Abnormality of subcutaneous fat tissue	7840	ALMS1	ORPHA:64
HP:0001001	Abnormality of subcutaneous fat tissue	84196	USP48	ORPHA:96253
HP:0001001	Abnormality of subcutaneous fat tissue	7157	TP53	ORPHA:96253
HP:0001001	Abnormality of subcutaneous fat tissue	9101	USP8	ORPHA:96253
HP:0001001	Abnormality of subcutaneous fat tissue	64072	CDH23	ORPHA:96253
HP:0001001	Abnormality of subcutaneous fat tissue	2908	NR3C1	ORPHA:96253
HP:0001001	Abnormality of subcutaneous fat tissue	673	BRAF	ORPHA:96253
HP:0001001	Abnormality of subcutaneous fat tissue	546	ATRX	ORPHA:96253
HP:0001001	Abnormality of subcutaneous fat tissue	150	ADRA2A	OMIM:620679
HP:0001001	Abnormality of subcutaneous fat tissue	93587	TRMT10A	ORPHA:391408
HP:0001001	Abnormality of subcutaneous fat tissue	93587	TRMT10A	OMIM:616033
HP:0001001	Abnormality of subcutaneous fat tissue	84919	PPP1R15B	ORPHA:391408
HP:0001001	Abnormality of subcutaneous fat tissue	5573	PRKAR1A	ORPHA:1359
HP:0001001	Abnormality of subcutaneous fat tissue	50940	PDE11A	ORPHA:1359
HP:0001003	Multiple lentigines	25778	DSTYK	ORPHA:101003
HP:0001003	Multiple lentigines	25778	DSTYK	OMIM:270750
HP:0001003	Multiple lentigines	5573	PRKAR1A	OMIM:160980
HP:0001003	Multiple lentigines	5573	PRKAR1A	ORPHA:1359
HP:0001003	Multiple lentigines	5605	MAP2K2	OMIM:615280
HP:0001003	Multiple lentigines	5605	MAP2K2	ORPHA:1340
HP:0001003	Multiple lentigines	8036	SHOC2	OMIM:607721
HP:0001003	Multiple lentigines	5781	PTPN11	OMIM:151100
HP:0001003	Multiple lentigines	5781	PTPN11	ORPHA:500
HP:0001003	Multiple lentigines	5594	MAPK1	OMIM:619087
HP:0001003	Multiple lentigines	50485	SMARCAL1	ORPHA:1830
HP:0001003	Multiple lentigines	4893	NRAS	OMIM:613224
HP:0001003	Multiple lentigines	6794	STK11	ORPHA:2869
HP:0001003	Multiple lentigines	5894	RAF1	OMIM:611554
HP:0001003	Multiple lentigines	5894	RAF1	OMIM:611553
HP:0001003	Multiple lentigines	5894	RAF1	ORPHA:500
HP:0001003	Multiple lentigines	673	BRAF	OMIM:115150
HP:0001003	Multiple lentigines	673	BRAF	ORPHA:1340
HP:0001003	Multiple lentigines	673	BRAF	OMIM:613707
HP:0001003	Multiple lentigines	673	BRAF	ORPHA:500
HP:0001003	Multiple lentigines	4254	KITLG	OMIM:145250
HP:0001003	Multiple lentigines	5604	MAP2K1	ORPHA:1340
HP:0001003	Multiple lentigines	3845	KRAS	ORPHA:1340
HP:0001003	Multiple lentigines	50940	PDE11A	ORPHA:1359
HP:0001004	Lymphedema	64132	XYLT2	OMIM:605822
HP:0001004	Lymphedema	9780	PIEZO1	OMIM:616843
HP:0001004	Lymphedema	9780	PIEZO1	ORPHA:79452
HP:0001004	Lymphedema	5784	PTPN14	OMIM:613611
HP:0001004	Lymphedema	118429	ANTXR2	ORPHA:2176
HP:0001004	Lymphedema	3636	INPPL1	ORPHA:3144
HP:0001004	Lymphedema	23169	SLC35D1	ORPHA:3144
HP:0001004	Lymphedema	85358	SHANK3	OMIM:606232
HP:0001004	Lymphedema	596	BCL2	ORPHA:545
HP:0001004	Lymphedema	3492	IGH	ORPHA:545
HP:0001004	Lymphedema	3123	HLA-DRB1	ORPHA:545
HP:0001004	Lymphedema	604	BCL6	ORPHA:545
HP:0001004	Lymphedema	2050	EPHB4	OMIM:617300
HP:0001004	Lymphedema	2050	EPHB4	ORPHA:137667
HP:0001004	Lymphedema	2050	EPHB4	ORPHA:90186
HP:0001004	Lymphedema	2624	GATA2	OMIM:614038
HP:0001004	Lymphedema	2624	GATA2	ORPHA:228423
HP:0001004	Lymphedema	998	CDC42	OMIM:616737
HP:0001004	Lymphedema	998	CDC42	ORPHA:487796
HP:0001004	Lymphedema	7248	TSC1	ORPHA:538
HP:0001004	Lymphedema	7249	TSC2	ORPHA:538
HP:0001004	Lymphedema	1020	CDK5	OMIM:616342
HP:0001004	Lymphedema	8260	NAA10	OMIM:300855
HP:0001004	Lymphedema	2078	ERG	OMIM:620602
HP:0001004	Lymphedema	5604	MAP2K1	ORPHA:1340
HP:0001004	Lymphedema	5604	MAP2K1	OMIM:163950
HP:0001004	Lymphedema	5605	MAP2K2	ORPHA:1340
HP:0001004	Lymphedema	3845	KRAS	ORPHA:1340
HP:0001004	Lymphedema	3845	KRAS	ORPHA:648
HP:0001004	Lymphedema	3845	KRAS	OMIM:600268
HP:0001004	Lymphedema	673	BRAF	ORPHA:1340
HP:0001004	Lymphedema	673	BRAF	OMIM:163950
HP:0001004	Lymphedema	2717	GLA	ORPHA:324
HP:0001004	Lymphedema	2717	GLA	OMIM:301500
HP:0001004	Lymphedema	8517	IKBKG	OMIM:300291
HP:0001004	Lymphedema	57165	GJC2	OMIM:613480
HP:0001004	Lymphedema	57165	GJC2	ORPHA:79452
HP:0001004	Lymphedema	5290	PIK3CA	OMIM:613089
HP:0001004	Lymphedema	5290	PIK3CA	ORPHA:168984
HP:0001004	Lymphedema	80208	SPG11	ORPHA:2822
HP:0001004	Lymphedema	374654	KIF7	OMIM:607131
HP:0001004	Lymphedema	54345	SOX18	OMIM:137940
HP:0001004	Lymphedema	79633	FAT4	OMIM:616006
HP:0001004	Lymphedema	79633	FAT4	ORPHA:2136
HP:0001004	Lymphedema	79633	FAT4	ORPHA:314679
HP:0001004	Lymphedema	9508	ADAMTS3	ORPHA:2136
HP:0001004	Lymphedema	9508	ADAMTS3	OMIM:618154
HP:0001004	Lymphedema	147372	CCBE1	ORPHA:2136
HP:0001004	Lymphedema	147372	CCBE1	OMIM:235510
HP:0001004	Lymphedema	5728	PTEN	ORPHA:109
HP:0001004	Lymphedema	5649	RELN	OMIM:257320
HP:0001004	Lymphedema	207	AKT1	ORPHA:744
HP:0001004	Lymphedema	10060	ABCC9	OMIM:239850
HP:0001004	Lymphedema	2990	GUSB	ORPHA:584
HP:0001004	Lymphedema	7075	TIE1	OMIM:619401
HP:0001004	Lymphedema	285	ANGPT2	OMIM:619369
HP:0001004	Lymphedema	285	ANGPT2	ORPHA:79452
HP:0001004	Lymphedema	5594	MAPK1	OMIM:619087
HP:0001004	Lymphedema	3832	KIF11	ORPHA:2526
HP:0001004	Lymphedema	3832	KIF11	OMIM:152950
HP:0001004	Lymphedema	5921	RASA1	ORPHA:137667
HP:0001004	Lymphedema	8642	DCHS1	ORPHA:314679
HP:0001004	Lymphedema	2324	FLT4	ORPHA:79452
HP:0001004	Lymphedema	114548	NLRP3	OMIM:607115
HP:0001004	Lymphedema	90	ACVR1	ORPHA:337
HP:0001004	Lymphedema	5373	PMM2	ORPHA:79318
HP:0001004	Lymphedema	4693	NDP	ORPHA:891
HP:0001004	Lymphedema	1499	CTNNB1	ORPHA:891
HP:0001004	Lymphedema	23554	TSPAN12	ORPHA:891
HP:0001004	Lymphedema	4041	LRP5	ORPHA:891
HP:0001004	Lymphedema	79797	ZNF408	ORPHA:891
HP:0001004	Lymphedema	8322	FZD4	ORPHA:891
HP:0001004	Lymphedema	4668	NAGA	ORPHA:79280
HP:0001004	Lymphedema	4668	NAGA	OMIM:609242
HP:0001004	Lymphedema	4668	NAGA	ORPHA:79279
HP:0001004	Lymphedema	22800	RRAS2	ORPHA:648
HP:0001004	Lymphedema	867	CBL	ORPHA:648
HP:0001004	Lymphedema	867	CBL	OMIM:613563
HP:0001004	Lymphedema	8216	LZTR1	ORPHA:648
HP:0001004	Lymphedema	6016	RIT1	ORPHA:648
HP:0001004	Lymphedema	6237	RRAS	ORPHA:648
HP:0001004	Lymphedema	5894	RAF1	ORPHA:648
HP:0001004	Lymphedema	22808	MRAS	ORPHA:648
HP:0001004	Lymphedema	200734	SPRED2	ORPHA:648
HP:0001004	Lymphedema	4893	NRAS	ORPHA:648
HP:0001004	Lymphedema	6654	SOS1	ORPHA:648
HP:0001004	Lymphedema	6655	SOS2	ORPHA:648
HP:0001004	Lymphedema	5781	PTPN11	ORPHA:648
HP:0001004	Lymphedema	5781	PTPN11	OMIM:163950
HP:0001004	Lymphedema	5922	RASA2	ORPHA:648
HP:0001004	Lymphedema	55901	THSD1	OMIM:620244
HP:0001004	Lymphedema	3930	LBR	ORPHA:1426
HP:0001004	Lymphedema	3265	HRAS	ORPHA:2874
HP:0001004	Lymphedema	2303	FOXC2	OMIM:153400
HP:0001004	Lymphedema	29969	MDFIC	OMIM:620014
HP:0001004	Lymphedema	7424	VEGFC	OMIM:615907
HP:0001004	Lymphedema	9620	CELSR1	OMIM:619319
HP:0001004	Lymphedema	1786	DNMT1	ORPHA:314404
HP:0001004	Lymphedema	1786	DNMT1	OMIM:604121
HP:0001005	Dermatological manifestations of systemic disorders	3561	IL2RG	ORPHA:276
HP:0001005	Dermatological manifestations of systemic disorders	3376	IARS1	OMIM:617093
HP:0001005	Dermatological manifestations of systemic disorders	229	ALDOB	OMIM:229600
HP:0001005	Dermatological manifestations of systemic disorders	229	ALDOB	ORPHA:469
HP:0001005	Dermatological manifestations of systemic disorders	55532	SLC30A10	ORPHA:309854
HP:0001005	Dermatological manifestations of systemic disorders	3783	KCNN4	OMIM:616689
HP:0001005	Dermatological manifestations of systemic disorders	8573	CASK	OMIM:300908
HP:0001005	Dermatological manifestations of systemic disorders	2539	G6PD	OMIM:300908
HP:0001005	Dermatological manifestations of systemic disorders	3048	HBG2	OMIM:613977
HP:0001005	Dermatological manifestations of systemic disorders	5830	PEX5	OMIM:214110
HP:0001005	Dermatological manifestations of systemic disorders	5830	PEX5	ORPHA:912
HP:0001005	Dermatological manifestations of systemic disorders	80270	HSD3B7	ORPHA:79301
HP:0001005	Dermatological manifestations of systemic disorders	80270	HSD3B7	OMIM:607765
HP:0001005	Dermatological manifestations of systemic disorders	5314	PKHD1	ORPHA:53035
HP:0001005	Dermatological manifestations of systemic disorders	5314	PKHD1	ORPHA:731
HP:0001005	Dermatological manifestations of systemic disorders	9420	CYP7B1	ORPHA:79302
HP:0001005	Dermatological manifestations of systemic disorders	9420	CYP7B1	OMIM:613812
HP:0001005	Dermatological manifestations of systemic disorders	2038	EPB42	ORPHA:822
HP:0001005	Dermatological manifestations of systemic disorders	2038	EPB42	OMIM:612690
HP:0001005	Dermatological manifestations of systemic disorders	6521	SLC4A1	ORPHA:822
HP:0001005	Dermatological manifestations of systemic disorders	6521	SLC4A1	OMIM:612653
HP:0001005	Dermatological manifestations of systemic disorders	6710	SPTB	ORPHA:822
HP:0001005	Dermatological manifestations of systemic disorders	6710	SPTB	ORPHA:288
HP:0001005	Dermatological manifestations of systemic disorders	6710	SPTB	OMIM:616649
HP:0001005	Dermatological manifestations of systemic disorders	6708	SPTA1	ORPHA:822
HP:0001005	Dermatological manifestations of systemic disorders	6708	SPTA1	ORPHA:288
HP:0001005	Dermatological manifestations of systemic disorders	286	ANK1	ORPHA:822
HP:0001005	Dermatological manifestations of systemic disorders	286	ANK1	OMIM:182900
HP:0001005	Dermatological manifestations of systemic disorders	6718	AKR1D1	ORPHA:79303
HP:0001005	Dermatological manifestations of systemic disorders	6718	AKR1D1	OMIM:235555
HP:0001005	Dermatological manifestations of systemic disorders	84936	ZFYVE19	OMIM:619849
HP:0001005	Dermatological manifestations of systemic disorders	54658	UGT1A1	OMIM:143500
HP:0001005	Dermatological manifestations of systemic disorders	54658	UGT1A1	OMIM:237900
HP:0001005	Dermatological manifestations of systemic disorders	54658	UGT1A1	OMIM:606785
HP:0001005	Dermatological manifestations of systemic disorders	54658	UGT1A1	OMIM:218800
HP:0001005	Dermatological manifestations of systemic disorders	6005	RHAG	OMIM:185000
HP:0001005	Dermatological manifestations of systemic disorders	6005	RHAG	ORPHA:71275
HP:0001005	Dermatological manifestations of systemic disorders	6005	RHAG	OMIM:268150
HP:0001005	Dermatological manifestations of systemic disorders	55687	TRMU	OMIM:613070
HP:0001005	Dermatological manifestations of systemic disorders	3043	HBB	OMIM:603903
HP:0001005	Dermatological manifestations of systemic disorders	3043	HBB	ORPHA:232
HP:0001005	Dermatological manifestations of systemic disorders	3043	HBB	ORPHA:231214
HP:0001005	Dermatological manifestations of systemic disorders	3043	HBB	ORPHA:231222
HP:0001005	Dermatological manifestations of systemic disorders	3043	HBB	ORPHA:231226
HP:0001005	Dermatological manifestations of systemic disorders	60561	RINT1	OMIM:618641
HP:0001005	Dermatological manifestations of systemic disorders	2859	GPR35	ORPHA:171
HP:0001005	Dermatological manifestations of systemic disorders	10507	SEMA4D	ORPHA:171
HP:0001005	Dermatological manifestations of systemic disorders	4485	MST1	ORPHA:171
HP:0001005	Dermatological manifestations of systemic disorders	6925	TCF4	ORPHA:171
HP:0001005	Dermatological manifestations of systemic disorders	11232	POLG2	OMIM:618528
HP:0001005	Dermatological manifestations of systemic disorders	8942	KYNU	OMIM:236800
HP:0001005	Dermatological manifestations of systemic disorders	28234	SLCO1B3	OMIM:237450
HP:0001005	Dermatological manifestations of systemic disorders	28234	SLCO1B3	ORPHA:3111
HP:0001005	Dermatological manifestations of systemic disorders	10599	SLCO1B1	OMIM:237450
HP:0001005	Dermatological manifestations of systemic disorders	10599	SLCO1B1	ORPHA:3111
HP:0001005	Dermatological manifestations of systemic disorders	1716	DGUOK	OMIM:251880
HP:0001005	Dermatological manifestations of systemic disorders	2035	EPB41	ORPHA:288
HP:0001005	Dermatological manifestations of systemic disorders	2035	EPB41	OMIM:611804
HP:0001005	Dermatological manifestations of systemic disorders	2995	GYPC	ORPHA:288
HP:0001005	Dermatological manifestations of systemic disorders	1130	LYST	ORPHA:167
HP:0001005	Dermatological manifestations of systemic disorders	1130	LYST	OMIM:214500
HP:0001005	Dermatological manifestations of systemic disorders	5313	PKLR	OMIM:266200
HP:0001005	Dermatological manifestations of systemic disorders	5244	ABCB4	OMIM:614972
HP:0001005	Dermatological manifestations of systemic disorders	5244	ABCB4	OMIM:602347
HP:0001005	Dermatological manifestations of systemic disorders	5244	ABCB4	ORPHA:69665
HP:0001005	Dermatological manifestations of systemic disorders	5244	ABCB4	OMIM:600803
HP:0001005	Dermatological manifestations of systemic disorders	63894	VIPAS39	OMIM:613404
HP:0001005	Dermatological manifestations of systemic disorders	4645	MYO5B	OMIM:619868
HP:0001005	Dermatological manifestations of systemic disorders	2313	FLI1	ORPHA:370348
HP:0001005	Dermatological manifestations of systemic disorders	1244	ABCC2	ORPHA:234
HP:0001005	Dermatological manifestations of systemic disorders	1244	ABCC2	OMIM:237500
HP:0001005	Dermatological manifestations of systemic disorders	51594	NBAS	OMIM:616483
HP:0001005	Dermatological manifestations of systemic disorders	5311	PKD2	OMIM:613095
HP:0001005	Dermatological manifestations of systemic disorders	54914	FOCAD	OMIM:619991
HP:0001005	Dermatological manifestations of systemic disorders	10068	IL18BP	OMIM:618549
HP:0001005	Dermatological manifestations of systemic disorders	5828	PEX2	OMIM:614866
HP:0001005	Dermatological manifestations of systemic disorders	5828	PEX2	ORPHA:912
HP:0001005	Dermatological manifestations of systemic disorders	540	ATP7B	ORPHA:905
HP:0001005	Dermatological manifestations of systemic disorders	540	ATP7B	OMIM:277900
HP:0001005	Dermatological manifestations of systemic disorders	2592	GALT	OMIM:230400
HP:0001005	Dermatological manifestations of systemic disorders	2592	GALT	ORPHA:79239
HP:0001005	Dermatological manifestations of systemic disorders	5265	SERPINA1	ORPHA:60
HP:0001005	Dermatological manifestations of systemic disorders	5428	POLG	OMIM:203700
HP:0001005	Dermatological manifestations of systemic disorders	5551	PRF1	OMIM:603553
HP:0001005	Dermatological manifestations of systemic disorders	5551	PRF1	ORPHA:540
HP:0001005	Dermatological manifestations of systemic disorders	8676	STX11	OMIM:603552
HP:0001005	Dermatological manifestations of systemic disorders	8676	STX11	ORPHA:540
HP:0001005	Dermatological manifestations of systemic disorders	9095	TBX19	OMIM:201400
HP:0001005	Dermatological manifestations of systemic disorders	5205	ATP8B1	ORPHA:69665
HP:0001005	Dermatological manifestations of systemic disorders	5205	ATP8B1	OMIM:211600
HP:0001005	Dermatological manifestations of systemic disorders	5205	ATP8B1	OMIM:147480
HP:0001005	Dermatological manifestations of systemic disorders	8647	ABCB11	ORPHA:69665
HP:0001005	Dermatological manifestations of systemic disorders	8647	ABCB11	OMIM:605479
HP:0001005	Dermatological manifestations of systemic disorders	9971	NR1H4	ORPHA:69665
HP:0001005	Dermatological manifestations of systemic disorders	9971	NR1H4	OMIM:617049
HP:0001005	Dermatological manifestations of systemic disorders	55670	PEX26	OMIM:614872
HP:0001005	Dermatological manifestations of systemic disorders	55670	PEX26	ORPHA:912
HP:0001005	Dermatological manifestations of systemic disorders	11231	SEC63	ORPHA:2924
HP:0001005	Dermatological manifestations of systemic disorders	5589	PRKCSH	ORPHA:2924
HP:0001005	Dermatological manifestations of systemic disorders	4041	LRP5	ORPHA:2924
HP:0001005	Dermatological manifestations of systemic disorders	10165	SLC25A13	ORPHA:247598
HP:0001005	Dermatological manifestations of systemic disorders	9409	PEX16	OMIM:614876
HP:0001005	Dermatological manifestations of systemic disorders	9409	PEX16	ORPHA:912
HP:0001005	Dermatological manifestations of systemic disorders	2729	GCLC	ORPHA:33574
HP:0001005	Dermatological manifestations of systemic disorders	91949	COG7	ORPHA:79333
HP:0001005	Dermatological manifestations of systemic disorders	91949	COG7	OMIM:608779
HP:0001005	Dermatological manifestations of systemic disorders	9968	MED12	OMIM:301068
HP:0001005	Dermatological manifestations of systemic disorders	811	CALR	ORPHA:131
HP:0001005	Dermatological manifestations of systemic disorders	3717	JAK2	ORPHA:131
HP:0001005	Dermatological manifestations of systemic disorders	2153	F5	ORPHA:131
HP:0001005	Dermatological manifestations of systemic disorders	11330	CTRC	ORPHA:103918
HP:0001005	Dermatological manifestations of systemic disorders	11330	CTRC	ORPHA:676
HP:0001005	Dermatological manifestations of systemic disorders	6690	SPINK1	ORPHA:103918
HP:0001005	Dermatological manifestations of systemic disorders	6690	SPINK1	ORPHA:676
HP:0001005	Dermatological manifestations of systemic disorders	79989	IFT56	OMIM:619534
HP:0001005	Dermatological manifestations of systemic disorders	9652	SKIC3	OMIM:222470
HP:0001005	Dermatological manifestations of systemic disorders	5213	PFKM	OMIM:232800
HP:0001005	Dermatological manifestations of systemic disorders	54532	USP53	OMIM:619658
HP:0001005	Dermatological manifestations of systemic disorders	5195	PEX14	OMIM:614887
HP:0001005	Dermatological manifestations of systemic disorders	5195	PEX14	ORPHA:912
HP:0001005	Dermatological manifestations of systemic disorders	29929	ALG6	ORPHA:79320
HP:0001005	Dermatological manifestations of systemic disorders	5825	ABCD3	OMIM:616278
HP:0001005	Dermatological manifestations of systemic disorders	113220	KIF12	OMIM:619662
HP:0001005	Dermatological manifestations of systemic disorders	27429	HTRA2	OMIM:617248
HP:0001005	Dermatological manifestations of systemic disorders	5824	PEX19	ORPHA:912
HP:0001005	Dermatological manifestations of systemic disorders	8504	PEX3	ORPHA:912
HP:0001005	Dermatological manifestations of systemic disorders	8799	PEX11B	ORPHA:912
HP:0001005	Dermatological manifestations of systemic disorders	5190	PEX6	ORPHA:912
HP:0001005	Dermatological manifestations of systemic disorders	5189	PEX1	ORPHA:912
HP:0001005	Dermatological manifestations of systemic disorders	5193	PEX12	ORPHA:912
HP:0001005	Dermatological manifestations of systemic disorders	5194	PEX13	ORPHA:912
HP:0001005	Dermatological manifestations of systemic disorders	5192	PEX10	ORPHA:912
HP:0001005	Dermatological manifestations of systemic disorders	6006	RHCE	ORPHA:71275
HP:0001005	Dermatological manifestations of systemic disorders	6007	RHD	ORPHA:71275
HP:0001005	Dermatological manifestations of systemic disorders	10159	ATP6AP2	OMIM:301045
HP:0001005	Dermatological manifestations of systemic disorders	3155	HMGCL	ORPHA:20
HP:0001005	Dermatological manifestations of systemic disorders	7167	TPI1	OMIM:615512
HP:0001005	Dermatological manifestations of systemic disorders	763	CA5A	OMIM:615751
HP:0001005	Dermatological manifestations of systemic disorders	84529	CDIN1	OMIM:615631
HP:0001005	Dermatological manifestations of systemic disorders	1798	DPAGT1	OMIM:608093
HP:0001005	Dermatological manifestations of systemic disorders	3875	KRT18	OMIM:215600
HP:0001005	Dermatological manifestations of systemic disorders	4023	LPL	OMIM:238600
HP:0001005	Dermatological manifestations of systemic disorders	9780	PIEZO1	OMIM:194380
HP:0001005	Dermatological manifestations of systemic disorders	201294	UNC13D	ORPHA:540
HP:0001005	Dermatological manifestations of systemic disorders	6813	STXBP2	ORPHA:540
HP:0001005	Dermatological manifestations of systemic disorders	672	BRCA1	ORPHA:70567
HP:0001005	Dermatological manifestations of systemic disorders	672	BRCA1	ORPHA:1333
HP:0001005	Dermatological manifestations of systemic disorders	675	BRCA2	ORPHA:70567
HP:0001005	Dermatological manifestations of systemic disorders	675	BRCA2	ORPHA:1333
HP:0001005	Dermatological manifestations of systemic disorders	5774	PTPN3	ORPHA:70567
HP:0001005	Dermatological manifestations of systemic disorders	6098	ROS1	ORPHA:70567
HP:0001005	Dermatological manifestations of systemic disorders	11093	ADAMTS13	OMIM:274150
HP:0001005	Dermatological manifestations of systemic disorders	6513	SLC2A1	OMIM:608885
HP:0001005	Dermatological manifestations of systemic disorders	6513	SLC2A1	ORPHA:168577
HP:0001005	Dermatological manifestations of systemic disorders	3930	LBR	ORPHA:779
HP:0001005	Dermatological manifestations of systemic disorders	3930	LBR	OMIM:613471
HP:0001005	Dermatological manifestations of systemic disorders	9076	CLDN1	ORPHA:59303
HP:0001005	Dermatological manifestations of systemic disorders	9076	CLDN1	OMIM:607626
HP:0001005	Dermatological manifestations of systemic disorders	7849	PAX8	ORPHA:95720
HP:0001005	Dermatological manifestations of systemic disorders	7849	PAX8	ORPHA:95712
HP:0001005	Dermatological manifestations of systemic disorders	7253	TSHR	ORPHA:95720
HP:0001005	Dermatological manifestations of systemic disorders	5172	SLC26A4	ORPHA:95720
HP:0001005	Dermatological manifestations of systemic disorders	51473	DCDC2	OMIM:617394
HP:0001005	Dermatological manifestations of systemic disorders	51218	GLRX5	OMIM:616860
HP:0001005	Dermatological manifestations of systemic disorders	2821	GPI	OMIM:613470
HP:0001005	Dermatological manifestations of systemic disorders	50619	DEF6	OMIM:619573
HP:0001005	Dermatological manifestations of systemic disorders	7019	TFAM	OMIM:617156
HP:0001005	Dermatological manifestations of systemic disorders	8260	NAA10	OMIM:300855
HP:0001005	Dermatological manifestations of systemic disorders	4358	MPV17	OMIM:256810
HP:0001005	Dermatological manifestations of systemic disorders	3431	SP110	ORPHA:79124
HP:0001005	Dermatological manifestations of systemic disorders	1482	NKX2-5	ORPHA:95712
HP:0001005	Dermatological manifestations of systemic disorders	5277	PIGA	ORPHA:447
HP:0001005	Dermatological manifestations of systemic disorders	26276	VPS33B	OMIM:208085
HP:0001005	Dermatological manifestations of systemic disorders	26276	VPS33B	OMIM:620010
HP:0001005	Dermatological manifestations of systemic disorders	7289	TULP3	OMIM:619902
HP:0001005	Dermatological manifestations of systemic disorders	285282	RABL3	ORPHA:1333
HP:0001005	Dermatological manifestations of systemic disorders	7157	TP53	ORPHA:1333
HP:0001005	Dermatological manifestations of systemic disorders	3845	KRAS	ORPHA:1333
HP:0001005	Dermatological manifestations of systemic disorders	1029	CDKN2A	ORPHA:1333
HP:0001005	Dermatological manifestations of systemic disorders	79728	PALB2	ORPHA:1333
HP:0001005	Dermatological manifestations of systemic disorders	4089	SMAD4	ORPHA:1333
HP:0001005	Dermatological manifestations of systemic disorders	23022	PALLD	ORPHA:1333
HP:0001005	Dermatological manifestations of systemic disorders	4548	MTR	OMIM:250940
HP:0001005	Dermatological manifestations of systemic disorders	84701	COX4I2	OMIM:612714
HP:0001005	Dermatological manifestations of systemic disorders	9493	KIF23	OMIM:105600
HP:0001005	Dermatological manifestations of systemic disorders	5873	RAB27A	ORPHA:79477
HP:0001005	Dermatological manifestations of systemic disorders	5644	PRSS1	ORPHA:676
HP:0001005	Dermatological manifestations of systemic disorders	5645	PRSS2	ORPHA:676
HP:0001005	Dermatological manifestations of systemic disorders	55503	TRPV6	ORPHA:676
HP:0001005	Dermatological manifestations of systemic disorders	846	CASR	ORPHA:676
HP:0001005	Dermatological manifestations of systemic disorders	1080	CFTR	ORPHA:676
HP:0001005	Dermatological manifestations of systemic disorders	1357	CPA1	ORPHA:676
HP:0001005	Dermatological manifestations of systemic disorders	9997	SCO2	OMIM:604377
HP:0001005	Dermatological manifestations of systemic disorders	538	ATP7A	ORPHA:198
HP:0001005	Dermatological manifestations of systemic disorders	570	BAAT	OMIM:619232
HP:0001005	Dermatological manifestations of systemic disorders	6711	SPTBN1	OMIM:619475
HP:0001005	Dermatological manifestations of systemic disorders	6928	HNF1B	ORPHA:93111
HP:0001005	Dermatological manifestations of systemic disorders	286410	ATP11C	OMIM:301015
HP:0001005	Dermatological manifestations of systemic disorders	3594	IL12RB1	ORPHA:186
HP:0001005	Dermatological manifestations of systemic disorders	23534	TNPO3	ORPHA:186
HP:0001005	Dermatological manifestations of systemic disorders	3592	IL12A	ORPHA:186
HP:0001005	Dermatological manifestations of systemic disorders	6689	SPIB	ORPHA:186
HP:0001005	Dermatological manifestations of systemic disorders	5450	POU2AF1	ORPHA:186
HP:0001005	Dermatological manifestations of systemic disorders	9966	TNFSF15	ORPHA:186
HP:0001005	Dermatological manifestations of systemic disorders	79258	MMEL1	ORPHA:186
HP:0001005	Dermatological manifestations of systemic disorders	3663	IRF5	ORPHA:186
HP:0001005	Dermatological manifestations of systemic disorders	10483	SEC23B	OMIM:224100
HP:0001005	Dermatological manifestations of systemic disorders	51124	IER3IP1	OMIM:614231
HP:0001005	Dermatological manifestations of systemic disorders	3098	HK1	OMIM:235700
HP:0001005	Dermatological manifestations of systemic disorders	226	ALDOA	OMIM:611881
HP:0001005	Dermatological manifestations of systemic disorders	100506658	OCLN	OMIM:251290
HP:0001005	Dermatological manifestations of systemic disorders	5573	PRKAR1A	ORPHA:615
HP:0001005	Dermatological manifestations of systemic disorders	199221	DZIP1L	ORPHA:731
HP:0001005	Dermatological manifestations of systemic disorders	2215	FCGR3B	ORPHA:464370
HP:0001005	Dermatological manifestations of systemic disorders	10577	NPC2	OMIM:607625
HP:0001005	Dermatological manifestations of systemic disorders	7390	UROS	OMIM:263700
HP:0001005	Dermatological manifestations of systemic disorders	5449	POU1F1	OMIM:613038
HP:0001005	Dermatological manifestations of systemic disorders	25974	MMACHC	ORPHA:79282
HP:0001005	Dermatological manifestations of systemic disorders	1371	CPOX	OMIM:121300
HP:0001005	Dermatological manifestations of systemic disorders	1719	DHFR	OMIM:613839
HP:0001005	Dermatological manifestations of systemic disorders	9451	EIF2AK3	ORPHA:1667
HP:0001005	Dermatological manifestations of systemic disorders	37	ACADVL	ORPHA:26793
HP:0001005	Dermatological manifestations of systemic disorders	4067	LYN	OMIM:620376
HP:0001005	Dermatological manifestations of systemic disorders	2110	ETFDH	OMIM:231680
HP:0001005	Dermatological manifestations of systemic disorders	2108	ETFA	OMIM:231680
HP:0001005	Dermatological manifestations of systemic disorders	2109	ETFB	OMIM:231680
HP:0001005	Dermatological manifestations of systemic disorders	3988	LIPA	ORPHA:75234
HP:0001005	Dermatological manifestations of systemic disorders	2582	GALE	OMIM:230350
HP:0001005	Dermatological manifestations of systemic disorders	94	ACVRL1	OMIM:600376
HP:0001005	Dermatological manifestations of systemic disorders	6899	TBX1	ORPHA:3384
HP:0001005	Dermatological manifestations of systemic disorders	137814	NKX2-6	ORPHA:3384
HP:0001005	Dermatological manifestations of systemic disorders	23129	PLXND1	ORPHA:3384
HP:0001005	Dermatological manifestations of systemic disorders	51422	PRKAG2	OMIM:261740
HP:0001005	Dermatological manifestations of systemic disorders	4000	LMNA	OMIM:619793
HP:0001005	Dermatological manifestations of systemic disorders	4000	LMNA	ORPHA:740
HP:0001005	Dermatological manifestations of systemic disorders	4625	MYH7	ORPHA:1880
HP:0001005	Dermatological manifestations of systemic disorders	2653	GCSH	OMIM:620423
HP:0001005	Dermatological manifestations of systemic disorders	5250	SLC25A3	ORPHA:91130
HP:0001005	Dermatological manifestations of systemic disorders	5250	SLC25A3	OMIM:610773
HP:0001005	Dermatological manifestations of systemic disorders	6334	SCN8A	ORPHA:306
HP:0001005	Dermatological manifestations of systemic disorders	6326	SCN2A	ORPHA:306
HP:0001005	Dermatological manifestations of systemic disorders	6326	SCN2A	OMIM:607745
HP:0001005	Dermatological manifestations of systemic disorders	112476	PRRT2	ORPHA:306
HP:0001005	Dermatological manifestations of systemic disorders	3785	KCNQ2	ORPHA:306
HP:0001005	Dermatological manifestations of systemic disorders	3786	KCNQ3	ORPHA:306
HP:0001005	Dermatological manifestations of systemic disorders	6440	SFTPC	OMIM:610913
HP:0001005	Dermatological manifestations of systemic disorders	6440	SFTPC	ORPHA:685082
HP:0001005	Dermatological manifestations of systemic disorders	6439	SFTPB	OMIM:265120
HP:0001005	Dermatological manifestations of systemic disorders	6439	SFTPB	ORPHA:685082
HP:0001005	Dermatological manifestations of systemic disorders	7547	ZIC3	OMIM:306955
HP:0001005	Dermatological manifestations of systemic disorders	2022	ENG	OMIM:187300
HP:0001005	Dermatological manifestations of systemic disorders	5105	PCK1	OMIM:261680
HP:0001005	Dermatological manifestations of systemic disorders	21	ABCA3	OMIM:610921
HP:0001005	Dermatological manifestations of systemic disorders	21	ABCA3	ORPHA:685082
HP:0001005	Dermatological manifestations of systemic disorders	118856	MMP21	OMIM:616749
HP:0001005	Dermatological manifestations of systemic disorders	83480	PUS3	ORPHA:488627
HP:0001005	Dermatological manifestations of systemic disorders	1528	CYB5A	OMIM:250790
HP:0001005	Dermatological manifestations of systemic disorders	1528	CYB5A	ORPHA:621
HP:0001005	Dermatological manifestations of systemic disorders	2898	GRIK2	OMIM:619580
HP:0001005	Dermatological manifestations of systemic disorders	440275	EIF2AK4	ORPHA:199241
HP:0001005	Dermatological manifestations of systemic disorders	6662	SOX9	ORPHA:718
HP:0001005	Dermatological manifestations of systemic disorders	788	SLC25A20	ORPHA:159
HP:0001005	Dermatological manifestations of systemic disorders	7092	TLL1	ORPHA:99106
HP:0001005	Dermatological manifestations of systemic disorders	7092	TLL1	ORPHA:99103
HP:0001005	Dermatological manifestations of systemic disorders	3028	HSD17B10	ORPHA:391428
HP:0001005	Dermatological manifestations of systemic disorders	5337	PLD1	OMIM:212093
HP:0001005	Dermatological manifestations of systemic disorders	57057	TBX20	ORPHA:99103
HP:0001005	Dermatological manifestations of systemic disorders	4624	MYH6	ORPHA:99103
HP:0001005	Dermatological manifestations of systemic disorders	70	ACTC1	ORPHA:99103
HP:0001005	Dermatological manifestations of systemic disorders	10370	CITED2	ORPHA:99103
HP:0001005	Dermatological manifestations of systemic disorders	2626	GATA4	ORPHA:99103
HP:0001005	Dermatological manifestations of systemic disorders	2627	GATA6	ORPHA:99103
HP:0001005	Dermatological manifestations of systemic disorders	1727	CYB5R3	OMIM:250800
HP:0001005	Dermatological manifestations of systemic disorders	1727	CYB5R3	ORPHA:621
HP:0001005	Dermatological manifestations of systemic disorders	55975	KLHL7	OMIM:617055
HP:0001005	Dermatological manifestations of systemic disorders	5167	ENPP1	ORPHA:51608
HP:0001005	Dermatological manifestations of systemic disorders	368	ABCC6	ORPHA:51608
HP:0001005	Dermatological manifestations of systemic disorders	3039	HBA1	OMIM:617973
HP:0001005	Dermatological manifestations of systemic disorders	4519	MT-CYB	ORPHA:137675
HP:0001005	Dermatological manifestations of systemic disorders	8021	NUP214	OMIM:618426
HP:0001005	Dermatological manifestations of systemic disorders	79770	TXNDC15	OMIM:619879
HP:0001005	Dermatological manifestations of systemic disorders	3123	HLA-DRB1	ORPHA:747
HP:0001005	Dermatological manifestations of systemic disorders	10269	ZMPSTE24	ORPHA:740
HP:0001005	Dermatological manifestations of systemic disorders	60482	SLC5A7	ORPHA:98914
HP:0001005	Dermatological manifestations of systemic disorders	4649	MYO9A	ORPHA:98914
HP:0001005	Dermatological manifestations of systemic disorders	1305	COL13A1	ORPHA:98914
HP:0001005	Dermatological manifestations of systemic disorders	1305	COL13A1	ORPHA:98913
HP:0001005	Dermatological manifestations of systemic disorders	1103	CHAT	ORPHA:98914
HP:0001005	Dermatological manifestations of systemic disorders	6576	SLC25A1	ORPHA:98914
HP:0001005	Dermatological manifestations of systemic disorders	6843	VAMP1	ORPHA:98914
HP:0001005	Dermatological manifestations of systemic disorders	375790	AGRN	ORPHA:98914
HP:0001005	Dermatological manifestations of systemic disorders	375790	AGRN	ORPHA:98913
HP:0001005	Dermatological manifestations of systemic disorders	127833	SYT2	ORPHA:98914
HP:0001005	Dermatological manifestations of systemic disorders	6572	SLC18A3	ORPHA:98914
HP:0001005	Dermatological manifestations of systemic disorders	6572	SLC18A3	OMIM:617239
HP:0001005	Dermatological manifestations of systemic disorders	6616	SNAP25	ORPHA:98914
HP:0001005	Dermatological manifestations of systemic disorders	6329	SCN4A	ORPHA:98913
HP:0001005	Dermatological manifestations of systemic disorders	1134	CHRNA1	ORPHA:98913
HP:0001005	Dermatological manifestations of systemic disorders	4038	LRP4	ORPHA:98913
HP:0001005	Dermatological manifestations of systemic disorders	1140	CHRNB1	ORPHA:98913
HP:0001005	Dermatological manifestations of systemic disorders	1144	CHRND	ORPHA:98913
HP:0001005	Dermatological manifestations of systemic disorders	1145	CHRNE	ORPHA:98913
HP:0001005	Dermatological manifestations of systemic disorders	4593	MUSK	ORPHA:98913
HP:0001005	Dermatological manifestations of systemic disorders	5913	RAPSN	ORPHA:98913
HP:0001005	Dermatological manifestations of systemic disorders	221264	AK9	ORPHA:98913
HP:0001005	Dermatological manifestations of systemic disorders	285489	DOK7	ORPHA:98913
HP:0001005	Dermatological manifestations of systemic disorders	8241	RBM10	ORPHA:2886
HP:0001005	Dermatological manifestations of systemic disorders	4724	NDUFS4	OMIM:252010
HP:0001005	Dermatological manifestations of systemic disorders	54916	TMEM260	OMIM:617478
HP:0001005	Dermatological manifestations of systemic disorders	10568	SLC34A2	ORPHA:60025
HP:0001005	Dermatological manifestations of systemic disorders	826	CAPNS1	OMIM:620777
HP:0001005	Dermatological manifestations of systemic disorders	84705	GTPBP3	ORPHA:444013
HP:0001005	Dermatological manifestations of systemic disorders	546	ATRX	ORPHA:100075
HP:0001005	Dermatological manifestations of systemic disorders	2934	GSN	ORPHA:85448
HP:0001005	Dermatological manifestations of systemic disorders	5624	PROC	OMIM:176860
HP:0001005	Dermatological manifestations of systemic disorders	5624	PROC	ORPHA:745
HP:0001005	Dermatological manifestations of systemic disorders	5627	PROS1	OMIM:612336
HP:0001005	Dermatological manifestations of systemic disorders	10019	SH2B3	OMIM:133100
HP:0001005	Dermatological manifestations of systemic disorders	2057	EPOR	OMIM:133100
HP:0001005	Dermatological manifestations of systemic disorders	79798	ARMC5	ORPHA:189427
HP:0001005	Dermatological manifestations of systemic disorders	23028	KDM1A	ORPHA:189427
HP:0001005	Dermatological manifestations of systemic disorders	2778	GNAS	ORPHA:189427
HP:0001005	Dermatological manifestations of systemic disorders	84196	USP48	ORPHA:96253
HP:0001005	Dermatological manifestations of systemic disorders	9101	USP8	ORPHA:96253
HP:0001005	Dermatological manifestations of systemic disorders	64072	CDH23	ORPHA:96253
HP:0001005	Dermatological manifestations of systemic disorders	2908	NR3C1	ORPHA:96253
HP:0001005	Dermatological manifestations of systemic disorders	673	BRAF	ORPHA:96253
HP:0001005	Dermatological manifestations of systemic disorders	7428	VHL	OMIM:263400
HP:0001005	Dermatological manifestations of systemic disorders	23474	ETHE1	ORPHA:51188
HP:0001005	Dermatological manifestations of systemic disorders	23474	ETHE1	OMIM:602473
HP:0001005	Dermatological manifestations of systemic disorders	8518	ELP1	OMIM:223900
HP:0001005	Dermatological manifestations of systemic disorders	8518	ELP1	ORPHA:1764
HP:0001005	Dermatological manifestations of systemic disorders	6197	RPS6KA3	OMIM:303600
HP:0001005	Dermatological manifestations of systemic disorders	189	AGXT	OMIM:259900
HP:0001005	Dermatological manifestations of systemic disorders	729238	SFTPA2	ORPHA:2032
HP:0001005	Dermatological manifestations of systemic disorders	79991	STN1	ORPHA:2032
HP:0001005	Dermatological manifestations of systemic disorders	653509	SFTPA1	ORPHA:2032
HP:0001005	Dermatological manifestations of systemic disorders	1832	DSP	ORPHA:2032
HP:0001005	Dermatological manifestations of systemic disorders	727897	MUC5B	ORPHA:2032
HP:0001005	Dermatological manifestations of systemic disorders	10144	FAM13A	ORPHA:2032
HP:0001005	Dermatological manifestations of systemic disorders	23250	ATP11A	ORPHA:2032
HP:0001005	Dermatological manifestations of systemic disorders	91039	DPP9	ORPHA:2032
HP:0001005	Dermatological manifestations of systemic disorders	51750	RTEL1	ORPHA:2032
HP:0001005	Dermatological manifestations of systemic disorders	7012	TERC	ORPHA:2032
HP:0001005	Dermatological manifestations of systemic disorders	5073	PARN	ORPHA:2032
HP:0001005	Dermatological manifestations of systemic disorders	7015	TERT	ORPHA:2032
HP:0001005	Dermatological manifestations of systemic disorders	2517	FUCA1	ORPHA:349
HP:0001005	Dermatological manifestations of systemic disorders	4598	MVK	ORPHA:343
HP:0001005	Dermatological manifestations of systemic disorders	1277	COL1A1	ORPHA:287
HP:0001005	Dermatological manifestations of systemic disorders	1289	COL5A1	ORPHA:287
HP:0001005	Dermatological manifestations of systemic disorders	1290	COL5A2	ORPHA:287
HP:0001005	Dermatological manifestations of systemic disorders	51117	COQ4	OMIM:616276
HP:0001005	Dermatological manifestations of systemic disorders	10801	SEPTIN9	ORPHA:2901
HP:0001005	Dermatological manifestations of systemic disorders	2395	FXN	ORPHA:95
HP:0001005	Dermatological manifestations of systemic disorders	5077	PAX3	ORPHA:896
HP:0001005	Dermatological manifestations of systemic disorders	10664	CTCF	ORPHA:363611
HP:0001005	Dermatological manifestations of systemic disorders	23446	SLC44A1	OMIM:618868
HP:0001005	Dermatological manifestations of systemic disorders	5626	PROP1	ORPHA:226307
HP:0001005	Dermatological manifestations of systemic disorders	89884	LHX4	ORPHA:226307
HP:0001005	Dermatological manifestations of systemic disorders	8022	LHX3	ORPHA:226307
HP:0001005	Dermatological manifestations of systemic disorders	8820	HESX1	ORPHA:226307
HP:0001005	Dermatological manifestations of systemic disorders	1593	CYP27A1	ORPHA:909
HP:0001005	Dermatological manifestations of systemic disorders	100151683	RNU4ATAC	OMIM:210710
HP:0001005	Dermatological manifestations of systemic disorders	2584	GALK1	OMIM:230200
HP:0001005	Dermatological manifestations of systemic disorders	23600	AMACR	OMIM:214950
HP:0001005	Dermatological manifestations of systemic disorders	8405	SPOP	OMIM:618828
HP:0001005	Dermatological manifestations of systemic disorders	8085	KMT2D	OMIM:620186
HP:0001005	Dermatological manifestations of systemic disorders	6609	SMPD1	OMIM:257200
HP:0001005	Dermatological manifestations of systemic disorders	64324	NSD1	ORPHA:821
HP:0001005	Dermatological manifestations of systemic disorders	64324	NSD1	OMIM:117550
HP:0001005	Dermatological manifestations of systemic disorders	10297	APC2	ORPHA:821
HP:0001005	Dermatological manifestations of systemic disorders	123264	SLC51B	OMIM:619481
HP:0001005	Dermatological manifestations of systemic disorders	5631	PRPS1	ORPHA:423479
HP:0001005	Dermatological manifestations of systemic disorders	11277	TREX1	OMIM:225750
HP:0001005	Dermatological manifestations of systemic disorders	11277	TREX1	ORPHA:51
HP:0001005	Dermatological manifestations of systemic disorders	200894	ARL13B	OMIM:612291
HP:0001005	Dermatological manifestations of systemic disorders	10525	HYOU1	OMIM:233600
HP:0001005	Dermatological manifestations of systemic disorders	5184	PEPD	OMIM:170100
HP:0001005	Dermatological manifestations of systemic disorders	50506	DUOX2	ORPHA:226316
HP:0001005	Dermatological manifestations of systemic disorders	50506	DUOX2	ORPHA:95716
HP:0001005	Dermatological manifestations of systemic disorders	55904	KMT2E	OMIM:618512
HP:0001005	Dermatological manifestations of systemic disorders	182	JAG1	OMIM:118450
HP:0001005	Dermatological manifestations of systemic disorders	2542	SLC37A4	OMIM:619525
HP:0001005	Dermatological manifestations of systemic disorders	25973	PARS2	OMIM:618437
HP:0001005	Dermatological manifestations of systemic disorders	7252	TSHB	ORPHA:90674
HP:0001005	Dermatological manifestations of systemic disorders	6554	SLC10A1	OMIM:619256
HP:0001005	Dermatological manifestations of systemic disorders	55898	UNC45A	OMIM:619377
HP:0001005	Dermatological manifestations of systemic disorders	537	ATP6AP1	OMIM:300972
HP:0001005	Dermatological manifestations of systemic disorders	130589	GALM	OMIM:618881
HP:0001005	Dermatological manifestations of systemic disorders	8565	YARS1	OMIM:619418
HP:0001005	Dermatological manifestations of systemic disorders	405753	DUOXA2	ORPHA:95716
HP:0001005	Dermatological manifestations of systemic disorders	6528	SLC5A5	ORPHA:95716
HP:0001005	Dermatological manifestations of systemic disorders	7038	TG	ORPHA:95716
HP:0001005	Dermatological manifestations of systemic disorders	7173	TPO	ORPHA:95716
HP:0001005	Dermatological manifestations of systemic disorders	389434	IYD	ORPHA:95716
HP:0001005	Dermatological manifestations of systemic disorders	7080	NKX2-1	ORPHA:95713
HP:0001005	Dermatological manifestations of systemic disorders	2304	FOXE1	ORPHA:95713
HP:0001005	Dermatological manifestations of systemic disorders	84317	CCDC115	OMIM:616828
HP:0001005	Dermatological manifestations of systemic disorders	4864	NPC1	OMIM:257220
HP:0001005	Dermatological manifestations of systemic disorders	7201	TRHR	ORPHA:99832
HP:0001005	Dermatological manifestations of systemic disorders	6567	SLC16A2	ORPHA:59
HP:0001005	Dermatological manifestations of systemic disorders	2688	GH1	OMIM:262400
HP:0001005	Dermatological manifestations of systemic disorders	146059	CDAN1	OMIM:224120
HP:0001005	Dermatological manifestations of systemic disorders	10535	RNASEH2A	ORPHA:51
HP:0001005	Dermatological manifestations of systemic disorders	84153	RNASEH2C	ORPHA:51
HP:0001005	Dermatological manifestations of systemic disorders	25939	SAMHD1	ORPHA:51
HP:0001005	Dermatological manifestations of systemic disorders	79621	RNASEH2B	ORPHA:51
HP:0001005	Dermatological manifestations of systemic disorders	103	ADAR	ORPHA:51
HP:0001005	Dermatological manifestations of systemic disorders	100147744	RNU7-1	ORPHA:51
HP:0001005	Dermatological manifestations of systemic disorders	134353	LSM11	ORPHA:51
HP:0001005	Dermatological manifestations of systemic disorders	64135	IFIH1	ORPHA:51
HP:0001005	Dermatological manifestations of systemic disorders	171019	ADAMTS19	OMIM:620067
HP:0001005	Dermatological manifestations of systemic disorders	29968	PSAT1	ORPHA:284417
HP:0001005	Dermatological manifestations of systemic disorders	29968	PSAT1	OMIM:610992
HP:0001005	Dermatological manifestations of systemic disorders	6335	SCN9A	ORPHA:33069
HP:0001005	Dermatological manifestations of systemic disorders	2554	GABRA1	ORPHA:33069
HP:0001005	Dermatological manifestations of systemic disorders	6323	SCN1A	ORPHA:33069
HP:0001005	Dermatological manifestations of systemic disorders	6324	SCN1B	ORPHA:33069
HP:0001005	Dermatological manifestations of systemic disorders	57526	PCDH19	ORPHA:33069
HP:0001005	Dermatological manifestations of systemic disorders	2566	GABRG2	ORPHA:33069
HP:0001007	Hirsutism	8243	SMC1A	OMIM:300590
HP:0001007	Hirsutism	8243	SMC1A	OMIM:301044
HP:0001007	Hirsutism	10128	LRPPRC	OMIM:220111
HP:0001007	Hirsutism	6448	SGSH	OMIM:252900
HP:0001007	Hirsutism	23394	ADNP	ORPHA:404448
HP:0001007	Hirsutism	23013	SPEN	OMIM:619312
HP:0001007	Hirsutism	9210	BMP15	OMIM:300510
HP:0001007	Hirsutism	124997	WDR81	OMIM:610185
HP:0001007	Hirsutism	6885	MAP3K7	OMIM:617137
HP:0001007	Hirsutism	6650	CAPN15	OMIM:619318
HP:0001007	Hirsutism	857	CAV1	OMIM:612526
HP:0001007	Hirsutism	2908	NR3C1	ORPHA:786
HP:0001007	Hirsutism	2908	NR3C1	ORPHA:96253
HP:0001007	Hirsutism	2908	NR3C1	OMIM:615962
HP:0001007	Hirsutism	411	ARSB	OMIM:253200
HP:0001007	Hirsutism	5447	POR	ORPHA:95699
HP:0001007	Hirsutism	55593	OTUD5	OMIM:301056
HP:0001007	Hirsutism	55869	HDAC8	OMIM:300882
HP:0001007	Hirsutism	10847	SRCAP	OMIM:136140
HP:0001007	Hirsutism	54453	RIN2	ORPHA:217335
HP:0001007	Hirsutism	170302	ARX	OMIM:300004
HP:0001007	Hirsutism	80816	ASXL3	OMIM:615485
HP:0001007	Hirsutism	51506	UFC1	OMIM:618076
HP:0001007	Hirsutism	65082	VPS33A	OMIM:617303
HP:0001007	Hirsutism	526	ATP6V1B2	OMIM:616455
HP:0001007	Hirsutism	4081	MAB21L1	OMIM:618479
HP:0001007	Hirsutism	4081	MAB21L1	ORPHA:495875
HP:0001007	Hirsutism	3097	HIVEP2	OMIM:616977
HP:0001007	Hirsutism	2720	GLB1	ORPHA:79255
HP:0001007	Hirsutism	3284	HSD3B2	ORPHA:90791
HP:0001007	Hirsutism	9126	SMC3	OMIM:610759
HP:0001007	Hirsutism	4131	MAP1B	OMIM:618918
HP:0001007	Hirsutism	5573	PRKAR1A	ORPHA:1359
HP:0001007	Hirsutism	5573	PRKAR1A	OMIM:160980
HP:0001007	Hirsutism	50940	PDE11A	ORPHA:1359
HP:0001007	Hirsutism	1584	CYP11B1	ORPHA:90795
HP:0001007	Hirsutism	6904	TBCD	ORPHA:496641
HP:0001007	Hirsutism	84196	USP48	ORPHA:96253
HP:0001007	Hirsutism	7157	TP53	ORPHA:96253
HP:0001007	Hirsutism	9101	USP8	ORPHA:96253
HP:0001007	Hirsutism	9101	USP8	OMIM:219090
HP:0001007	Hirsutism	64072	CDH23	ORPHA:96253
HP:0001007	Hirsutism	673	BRAF	ORPHA:96253
HP:0001007	Hirsutism	546	ATRX	ORPHA:96253
HP:0001007	Hirsutism	2316	FLNA	OMIM:305620
HP:0001007	Hirsutism	2530	FUT8	OMIM:618005
HP:0001007	Hirsutism	9698	PUM1	OMIM:620719
HP:0001007	Hirsutism	8913	CACNA1G	OMIM:618087
HP:0001007	Hirsutism	1020	CDK5	OMIM:616342
HP:0001007	Hirsutism	3756	KCNH1	OMIM:135500
HP:0001007	Hirsutism	3643	INSR	OMIM:246200
HP:0001007	Hirsutism	3643	INSR	ORPHA:769
HP:0001007	Hirsutism	80204	FBXO11	OMIM:618089
HP:0001007	Hirsutism	6597	SMARCA4	ORPHA:1465
HP:0001007	Hirsutism	6598	SMARCB1	ORPHA:1465
HP:0001007	Hirsutism	6598	SMARCB1	OMIM:614608
HP:0001007	Hirsutism	6659	SOX4	ORPHA:1465
HP:0001007	Hirsutism	8289	ARID1A	ORPHA:1465
HP:0001007	Hirsutism	8289	ARID1A	OMIM:614607
HP:0001007	Hirsutism	5977	DPF2	ORPHA:1465
HP:0001007	Hirsutism	6601	SMARCC2	ORPHA:1465
HP:0001007	Hirsutism	6602	SMARCD1	ORPHA:1465
HP:0001007	Hirsutism	57492	ARID1B	ORPHA:1465
HP:0001007	Hirsutism	196528	ARID2	ORPHA:1465
HP:0001007	Hirsutism	6605	SMARCE1	ORPHA:1465
HP:0001007	Hirsutism	6664	SOX11	ORPHA:1465
HP:0001007	Hirsutism	4853	NOTCH2	OMIM:102500
HP:0001007	Hirsutism	7965	AIMP2	OMIM:618006
HP:0001007	Hirsutism	93627	TBCK	OMIM:616900
HP:0001007	Hirsutism	93627	TBCK	ORPHA:488632
HP:0001007	Hirsutism	84100	ARL6	OMIM:209900
HP:0001007	Hirsutism	79140	CCDC28B	OMIM:209900
HP:0001007	Hirsutism	582	BBS1	OMIM:209900
HP:0001007	Hirsutism	114034	TOE1	OMIM:614969
HP:0001007	Hirsutism	11145	PLAAT3	OMIM:620683
HP:0001007	Hirsutism	4323	MMP14	OMIM:277950
HP:0001007	Hirsutism	4323	MMP14	ORPHA:371428
HP:0001007	Hirsutism	3339	HSPG2	ORPHA:1865
HP:0001007	Hirsutism	10555	AGPAT2	OMIM:608594
HP:0001007	Hirsutism	4313	MMP2	ORPHA:371428
HP:0001007	Hirsutism	4313	MMP2	OMIM:259600
HP:0001007	Hirsutism	7319	UBE2A	OMIM:300860
HP:0001007	Hirsutism	54361	WNT4	OMIM:158330
HP:0001007	Hirsutism	54361	WNT4	ORPHA:247768
HP:0001007	Hirsutism	9509	ADAMTS2	OMIM:225410
HP:0001007	Hirsutism	4000	LMNA	OMIM:151660
HP:0001007	Hirsutism	7403	KDM6A	OMIM:300867
HP:0001007	Hirsutism	7403	KDM6A	OMIM:147920
HP:0001007	Hirsutism	26040	SETBP1	OMIM:616078
HP:0001007	Hirsutism	128637	TBC1D20	OMIM:615663
HP:0001007	Hirsutism	23461	ABCA5	ORPHA:2026
HP:0001007	Hirsutism	23461	ABCA5	OMIM:135400
HP:0001007	Hirsutism	4214	MAP3K1	OMIM:613762
HP:0001007	Hirsutism	2783	GNB2	OMIM:619503
HP:0001007	Hirsutism	9049	AIP	OMIM:219090
HP:0001007	Hirsutism	3425	IDUA	OMIM:607014
HP:0001007	Hirsutism	3425	IDUA	OMIM:607015
HP:0001007	Hirsutism	1974	EIF4A2	OMIM:620455
HP:0001007	Hirsutism	4247	MGAT2	OMIM:212066
HP:0001007	Hirsutism	4247	MGAT2	ORPHA:79329
HP:0001007	Hirsutism	9563	H6PD	OMIM:604931
HP:0001007	Hirsutism	2074	ERCC6	OMIM:214150
HP:0001007	Hirsutism	7840	ALMS1	ORPHA:64
HP:0001007	Hirsutism	1267	CNP	OMIM:619071
HP:0001007	Hirsutism	6608	SMO	OMIM:601707
HP:0001007	Hirsutism	10526	IPO8	OMIM:619472
HP:0001007	Hirsutism	84504	NKX6-2	ORPHA:527497
HP:0001007	Hirsutism	26580	BSCL2	OMIM:269700
HP:0001007	Hirsutism	5566	PRKACA	OMIM:615830
HP:0001007	Hirsutism	2033	EP300	OMIM:180849
HP:0001007	Hirsutism	2033	EP300	OMIM:613684
HP:0001007	Hirsutism	1387	CREBBP	OMIM:180849
HP:0001007	Hirsutism	2737	GLI3	OMIM:175700
HP:0001007	Hirsutism	80232	WDR26	OMIM:617616
HP:0001007	Hirsutism	6134	RPL10	ORPHA:459070
HP:0001007	Hirsutism	9060	PAPSS2	OMIM:612847
HP:0001007	Hirsutism	5184	PEPD	ORPHA:742
HP:0001007	Hirsutism	10236	HNRNPR	OMIM:620073
HP:0001007	Hirsutism	5468	PPARG	OMIM:604367
HP:0001007	Hirsutism	7204	TRIO	OMIM:617061
HP:0001007	Hirsutism	6872	TAF1	OMIM:300966
HP:0001007	Hirsutism	55617	TASP1	OMIM:618950
HP:0001007	Hirsutism	57477	SHROOM4	ORPHA:85288
HP:0001007	Hirsutism	2263	FGFR2	OMIM:614592
HP:0001007	Hirsutism	2263	FGFR2	ORPHA:313855
HP:0001007	Hirsutism	91875	TTC5	OMIM:619244
HP:0001007	Hirsutism	79798	ARMC5	ORPHA:189427
HP:0001007	Hirsutism	23028	KDM1A	ORPHA:189427
HP:0001007	Hirsutism	2778	GNAS	ORPHA:189427
HP:0001007	Hirsutism	9373	PLAA	ORPHA:521426
HP:0001007	Hirsutism	9373	PLAA	OMIM:617527
HP:0001007	Hirsutism	7841	MOGS	ORPHA:79330
HP:0001007	Hirsutism	2799	GNS	OMIM:252940
HP:0001007	Hirsutism	11128	POLR3A	ORPHA:3455
HP:0001007	Hirsutism	55691	FRMD4A	OMIM:616819
HP:0001007	Hirsutism	55691	FRMD4A	ORPHA:466688
HP:0001007	Hirsutism	10020	GNE	OMIM:269921
HP:0001007	Hirsutism	6603	SMARCD2	OMIM:617475
HP:0001007	Hirsutism	1315	COPB1	OMIM:619255
HP:0001007	Hirsutism	2990	GUSB	OMIM:253220
HP:0001007	Hirsutism	64919	BCL11B	OMIM:617237
HP:0001007	Hirsutism	8481	OFD1	OMIM:300804
HP:0001007	Hirsutism	25836	NIPBL	OMIM:122470
HP:0001007	Hirsutism	54187	NANS	OMIM:610442
HP:0001007	Hirsutism	51322	WAC	OMIM:616708
HP:0001007	Hirsutism	51322	WAC	ORPHA:466950
HP:0001007	Hirsutism	138050	HGSNAT	OMIM:252930
HP:0001007	Hirsutism	2492	FSHR	ORPHA:64739
HP:0001007	Hirsutism	147372	CCBE1	OMIM:235510
HP:0001007	Hirsutism	4848	CNOT2	OMIM:618608
HP:0001007	Hirsutism	64131	XYLT1	ORPHA:370930
HP:0001007	Hirsutism	5965	RECQL	OMIM:620370
HP:0001007	Hirsutism	171023	ASXL1	OMIM:605039
HP:0001007	Hirsutism	55553	SOX6	OMIM:618971
HP:0001007	Hirsutism	284361	EMC10	OMIM:619264
HP:0001007	Hirsutism	84823	LMNB2	OMIM:608709
HP:0001007	Hirsutism	29072	SETD2	OMIM:616831
HP:0001007	Hirsutism	6878	TAF6	OMIM:617126
HP:0001007	Hirsutism	284119	CAVIN1	OMIM:613327
HP:0001007	Hirsutism	4669	NAGLU	OMIM:252920
HP:0001007	Hirsutism	8085	KMT2D	OMIM:147920
HP:0001007	Hirsutism	23476	BRD4	ORPHA:199
HP:0001007	Hirsutism	5885	RAD21	ORPHA:199
HP:0001007	Hirsutism	92482	BBIP1	ORPHA:110
HP:0001007	Hirsutism	80184	CEP290	ORPHA:110
HP:0001007	Hirsutism	11020	IFT27	ORPHA:110
HP:0001007	Hirsutism	49855	SCAPER	ORPHA:110
HP:0001007	Hirsutism	4867	NPHP1	ORPHA:110
HP:0001007	Hirsutism	51057	WDPCP	ORPHA:110
HP:0001007	Hirsutism	132320	SCLT1	ORPHA:110
HP:0001007	Hirsutism	27241	BBS9	ORPHA:110
HP:0001007	Hirsutism	84984	CEP19	ORPHA:110
HP:0001007	Hirsutism	22954	TRIM32	ORPHA:110
HP:0001007	Hirsutism	54903	MKS1	ORPHA:110
HP:0001007	Hirsutism	79738	BBS10	ORPHA:110
HP:0001007	Hirsutism	123016	TTC8	ORPHA:110
HP:0001007	Hirsutism	26160	IFT172	ORPHA:110
HP:0001007	Hirsutism	583	BBS2	ORPHA:110
HP:0001007	Hirsutism	585	BBS4	ORPHA:110
HP:0001007	Hirsutism	8195	MKKS	ORPHA:110
HP:0001007	Hirsutism	54585	LZTFL1	ORPHA:110
HP:0001007	Hirsutism	55212	BBS7	ORPHA:110
HP:0001007	Hirsutism	166379	BBS12	ORPHA:110
HP:0001007	Hirsutism	10806	SDCCAG8	ORPHA:110
HP:0001007	Hirsutism	157657	CFAP418	ORPHA:110
HP:0001007	Hirsutism	129880	BBS5	ORPHA:110
HP:0001007	Hirsutism	80173	IFT74	ORPHA:110
HP:0001007	Hirsutism	29957	SLC25A24	ORPHA:2095
HP:0001007	Hirsutism	29957	SLC25A24	ORPHA:2963
HP:0001007	Hirsutism	5593	PRKG2	OMIM:619636
HP:0001007	Hirsutism	55777	MBD5	ORPHA:228402
HP:0001007	Hirsutism	5590	PRKCZ	ORPHA:1606
HP:0001007	Hirsutism	2563	GABRD	ORPHA:1606
HP:0001007	Hirsutism	8510	MMP23B	ORPHA:1606
HP:0001007	Hirsutism	7798	LUZP1	ORPHA:1606
HP:0001007	Hirsutism	6497	SKI	ORPHA:1606
HP:0001007	Hirsutism	10630	PDPN	ORPHA:1606
HP:0001007	Hirsutism	10277	UBE4B	ORPHA:1606
HP:0001007	Hirsutism	8514	KCNAB2	ORPHA:1606
HP:0001007	Hirsutism	473	RERE	ORPHA:1606
HP:0001007	Hirsutism	63976	PRDM16	ORPHA:1606
HP:0001007	Hirsutism	54897	CASZ1	ORPHA:1606
HP:0001007	Hirsutism	207	AKT1	ORPHA:744
HP:0001007	Hirsutism	5594	MAPK1	OMIM:619087
HP:0001007	Hirsutism	63916	ELMO2	ORPHA:3019
HP:0001007	Hirsutism	117581	TWIST2	ORPHA:1231
HP:0001007	Hirsutism	7291	TWIST1	OMIM:617746
HP:0001007	Hirsutism	3764	KCNJ8	ORPHA:1517
HP:0001007	Hirsutism	10060	ABCC9	ORPHA:1517
HP:0001007	Hirsutism	4297	KMT2A	OMIM:605130
HP:0001007	Hirsutism	4297	KMT2A	ORPHA:319182
HP:0001007	Hirsutism	3664	IRF6	ORPHA:1300
HP:0001007	Hirsutism	83550	GPR101	ORPHA:963
HP:0001007	Hirsutism	22930	RAB3GAP1	ORPHA:2510
HP:0001007	Hirsutism	25782	RAB3GAP2	ORPHA:2510
HP:0001007	Hirsutism	22931	RAB18	ORPHA:2510
HP:0001007	Hirsutism	8604	SLC25A12	OMIM:612949
HP:0001007	Hirsutism	4784	NFIX	ORPHA:561
HP:0001007	Hirsutism	203068	TUBB	ORPHA:2505
HP:0001007	Hirsutism	10982	MAPRE2	ORPHA:2505
HP:0001007	Hirsutism	649	BMP1	OMIM:614856
HP:0001007	Hirsutism	2697	GJA1	ORPHA:317
HP:0001007	Hirsutism	2707	GJB3	ORPHA:317
HP:0001007	Hirsutism	2531	KDSR	ORPHA:317
HP:0001007	Hirsutism	127534	GJB4	ORPHA:317
HP:0001007	Hirsutism	8803	SUCLA2	ORPHA:1933
HP:0001007	Hirsutism	1588	CYP19A1	ORPHA:91
HP:0001007	Hirsutism	1075	CTSC	ORPHA:678
HP:0001007	Hirsutism	27125	AFF4	ORPHA:444077
HP:0001007	Hirsutism	129285	PPP1R21	OMIM:619383
HP:0001007	Hirsutism	1371	CPOX	ORPHA:79273
HP:0001007	Hirsutism	6913	TBX15	OMIM:260660
HP:0001007	Hirsutism	8626	TP63	OMIM:604292
HP:0001007	Hirsutism	54496	PRMT7	OMIM:617157
HP:0001007	Hirsutism	150468	CKAP2L	OMIM:272440
HP:0001007	Hirsutism	388015	RTL1	ORPHA:96334
HP:0001007	Hirsutism	8788	DLK1	ORPHA:96334
HP:0001007	Hirsutism	55384	MEG3	ORPHA:96334
HP:0001007	Hirsutism	23325	WASHC4	OMIM:615817
HP:0001008	Accumulation of melanosomes in melanocytes	5873	RAB27A	OMIM:607624
HP:0001008	Accumulation of melanosomes in melanocytes	4644	MYO5A	OMIM:214450
HP:0001009	Telangiectasia	3978	LIG1	OMIM:619774
HP:0001009	Telangiectasia	23328	SASH1	OMIM:618373
HP:0001009	Telangiectasia	4683	NBN	OMIM:251260
HP:0001009	Telangiectasia	5648	MASP1	OMIM:257920
HP:0001009	Telangiectasia	23064	SETX	OMIM:606002
HP:0001009	Telangiectasia	5190	PEX6	ORPHA:95433
HP:0001009	Telangiectasia	5476	CTSA	OMIM:256540
HP:0001009	Telangiectasia	2776	GNAQ	ORPHA:3205
HP:0001009	Telangiectasia	64840	PORCN	OMIM:305600
HP:0001009	Telangiectasia	11277	TREX1	OMIM:192315
HP:0001009	Telangiectasia	11277	TREX1	ORPHA:247691
HP:0001009	Telangiectasia	1643	DDB2	OMIM:278740
HP:0001009	Telangiectasia	1643	DDB2	ORPHA:910
HP:0001009	Telangiectasia	11284	PNKP	ORPHA:459033
HP:0001009	Telangiectasia	5728	PTEN	ORPHA:109
HP:0001009	Telangiectasia	5590	PRKCZ	ORPHA:1606
HP:0001009	Telangiectasia	2563	GABRD	ORPHA:1606
HP:0001009	Telangiectasia	23013	SPEN	ORPHA:1606
HP:0001009	Telangiectasia	8510	MMP23B	ORPHA:1606
HP:0001009	Telangiectasia	7798	LUZP1	ORPHA:1606
HP:0001009	Telangiectasia	6497	SKI	ORPHA:1606
HP:0001009	Telangiectasia	10630	PDPN	ORPHA:1606
HP:0001009	Telangiectasia	3339	HSPG2	ORPHA:1606
HP:0001009	Telangiectasia	10277	UBE4B	ORPHA:1606
HP:0001009	Telangiectasia	8514	KCNAB2	ORPHA:1606
HP:0001009	Telangiectasia	473	RERE	ORPHA:1606
HP:0001009	Telangiectasia	63976	PRDM16	ORPHA:1606
HP:0001009	Telangiectasia	54897	CASZ1	ORPHA:1606
HP:0001009	Telangiectasia	1729	DIAPH1	ORPHA:2573
HP:0001009	Telangiectasia	59	ACTA2	ORPHA:2573
HP:0001009	Telangiectasia	57674	RNF213	ORPHA:2573
HP:0001009	Telangiectasia	7507	XPA	OMIM:278700
HP:0001009	Telangiectasia	7507	XPA	ORPHA:910
HP:0001009	Telangiectasia	79650	USB1	OMIM:604173
HP:0001009	Telangiectasia	83605	CCM2	OMIM:603284
HP:0001009	Telangiectasia	3981	LIG4	OMIM:606593
HP:0001009	Telangiectasia	9401	RECQL4	OMIM:268400
HP:0001009	Telangiectasia	6888	TALDO1	ORPHA:101028
HP:0001009	Telangiectasia	6888	TALDO1	OMIM:606003
HP:0001009	Telangiectasia	2050	EPHB4	OMIM:618196
HP:0001009	Telangiectasia	2050	EPHB4	ORPHA:137667
HP:0001009	Telangiectasia	1294	COL7A1	ORPHA:158673
HP:0001009	Telangiectasia	4010	LMX1B	ORPHA:495818
HP:0001009	Telangiectasia	6812	STXBP1	ORPHA:495818
HP:0001009	Telangiectasia	5921	RASA1	ORPHA:137667
HP:0001009	Telangiectasia	2658	GDF2	ORPHA:774
HP:0001009	Telangiectasia	2658	GDF2	OMIM:615506
HP:0001009	Telangiectasia	94	ACVRL1	ORPHA:774
HP:0001009	Telangiectasia	4089	SMAD4	ORPHA:774
HP:0001009	Telangiectasia	4089	SMAD4	OMIM:175050
HP:0001009	Telangiectasia	2022	ENG	ORPHA:774
HP:0001009	Telangiectasia	2022	ENG	OMIM:187300
HP:0001009	Telangiectasia	2074	ERCC6	OMIM:600630
HP:0001009	Telangiectasia	2074	ERCC6	OMIM:278800
HP:0001009	Telangiectasia	8813	DPM1	OMIM:608799
HP:0001009	Telangiectasia	84992	PIGY	ORPHA:247262
HP:0001009	Telangiectasia	84720	PIGO	ORPHA:247262
HP:0001009	Telangiectasia	93210	PGAP3	ORPHA:247262
HP:0001009	Telangiectasia	284098	PIGW	ORPHA:247262
HP:0001009	Telangiectasia	27315	PGAP2	ORPHA:247262
HP:0001009	Telangiectasia	55650	PIGV	ORPHA:247262
HP:0001009	Telangiectasia	9487	PIGL	ORPHA:247262
HP:0001009	Telangiectasia	57654	UVSSA	OMIM:614640
HP:0001009	Telangiectasia	545	ATR	OMIM:614564
HP:0001009	Telangiectasia	340061	STING1	OMIM:615934
HP:0001009	Telangiectasia	4361	MRE11	OMIM:604391
HP:0001009	Telangiectasia	7508	XPC	OMIM:278720
HP:0001009	Telangiectasia	7508	XPC	ORPHA:910
HP:0001009	Telangiectasia	5429	POLH	ORPHA:90342
HP:0001009	Telangiectasia	641	BLM	ORPHA:125
HP:0001009	Telangiectasia	2068	ERCC2	OMIM:601675
HP:0001009	Telangiectasia	2068	ERCC2	OMIM:278730
HP:0001009	Telangiectasia	2068	ERCC2	ORPHA:910
HP:0001009	Telangiectasia	659	BMPR2	OMIM:178600
HP:0001009	Telangiectasia	165918	RNF168	ORPHA:420741
HP:0001009	Telangiectasia	4668	NAGA	ORPHA:79279
HP:0001009	Telangiectasia	2071	ERCC3	ORPHA:910
HP:0001009	Telangiectasia	2072	ERCC4	ORPHA:910
HP:0001009	Telangiectasia	2073	ERCC5	ORPHA:910
HP:0001009	Telangiectasia	650	BMP2	OMIM:235200
HP:0001009	Telangiectasia	3077	HFE	OMIM:235200
HP:0001009	Telangiectasia	4758	NEU1	ORPHA:93400
HP:0001009	Telangiectasia	64682	ANAPC1	ORPHA:221008
HP:0001009	Telangiectasia	170302	ARX	ORPHA:94083
HP:0001009	Telangiectasia	55315	SLC29A3	OMIM:602782
HP:0001009	Telangiectasia	55315	SLC29A3	ORPHA:168569
HP:0001009	Telangiectasia	546	ATRX	ORPHA:100075
HP:0001009	Telangiectasia	80326	WNT10A	ORPHA:50944
HP:0001009	Telangiectasia	55275	VPS53	OMIM:615851
HP:0001009	Telangiectasia	9675	TTI1	OMIM:620445
HP:0001009	Telangiectasia	10093	ARPC4	OMIM:620141
HP:0001009	Telangiectasia	79158	GNPTAB	ORPHA:576
HP:0001009	Telangiectasia	5426	POLE	OMIM:615139
HP:0001009	Telangiectasia	831	CAST	OMIM:616295
HP:0001009	Telangiectasia	5184	PEPD	OMIM:170100
HP:0001009	Telangiectasia	3815	KIT	ORPHA:79455
HP:0001009	Telangiectasia	3815	KIT	OMIM:154800
HP:0001009	Telangiectasia	54345	SOX18	OMIM:137940
HP:0001009	Telangiectasia	80169	CTC1	OMIM:612199
HP:0001009	Telangiectasia	84277	DNAJC30	OMIM:619382
HP:0001009	Telangiectasia	84277	DNAJC30	ORPHA:104
HP:0001009	Telangiectasia	2483	FRG1	OMIM:158900
HP:0001009	Telangiectasia	29072	SETD2	OMIM:620157
HP:0001009	Telangiectasia	29072	SETD2	OMIM:620155
HP:0001009	Telangiectasia	79991	STN1	OMIM:617341
HP:0001009	Telangiectasia	5111	PCNA	ORPHA:438134
HP:0001009	Telangiectasia	4535	MT-ND1	ORPHA:104
HP:0001009	Telangiectasia	4536	MT-ND2	ORPHA:104
HP:0001009	Telangiectasia	4538	MT-ND4	ORPHA:104
HP:0001009	Telangiectasia	4720	NDUFS2	ORPHA:104
HP:0001009	Telangiectasia	4512	MT-CO1	ORPHA:104
HP:0001009	Telangiectasia	4514	MT-CO3	ORPHA:104
HP:0001009	Telangiectasia	4519	MT-CYB	ORPHA:104
HP:0001009	Telangiectasia	4508	MT-ATP6	ORPHA:104
HP:0001009	Telangiectasia	4540	MT-ND5	ORPHA:104
HP:0001009	Telangiectasia	4541	MT-ND6	ORPHA:104
HP:0001009	Telangiectasia	4539	MT-ND4L	ORPHA:104
HP:0001009	Telangiectasia	2859	GPR35	ORPHA:171
HP:0001009	Telangiectasia	10507	SEMA4D	ORPHA:171
HP:0001009	Telangiectasia	4485	MST1	ORPHA:171
HP:0001009	Telangiectasia	6925	TCF4	ORPHA:171
HP:0001009	Telangiectasia	2542	SLC37A4	OMIM:232240
HP:0001009	Telangiectasia	4693	NDP	ORPHA:891
HP:0001009	Telangiectasia	1499	CTNNB1	ORPHA:891
HP:0001009	Telangiectasia	23554	TSPAN12	ORPHA:891
HP:0001009	Telangiectasia	4041	LRP5	ORPHA:891
HP:0001009	Telangiectasia	79797	ZNF408	ORPHA:891
HP:0001009	Telangiectasia	8322	FZD4	ORPHA:891
HP:0001009	Telangiectasia	472	ATM	ORPHA:100
HP:0001009	Telangiectasia	10483	SEC23B	ORPHA:201
HP:0001009	Telangiectasia	6390	SDHB	ORPHA:201
HP:0001009	Telangiectasia	6392	SDHD	ORPHA:201
HP:0001009	Telangiectasia	6391	SDHC	ORPHA:201
HP:0001009	Telangiectasia	207	AKT1	ORPHA:201
HP:0001009	Telangiectasia	205717	USF3	ORPHA:201
HP:0001009	Telangiectasia	5290	PIK3CA	ORPHA:201
HP:0001009	Telangiectasia	100144748	KLLN	ORPHA:201
HP:0001009	Telangiectasia	3930	LBR	ORPHA:779
HP:0001009	Telangiectasia	1235	CCR6	ORPHA:220402
HP:0001009	Telangiectasia	79932	KIAA0319L	ORPHA:220402
HP:0001009	Telangiectasia	1490	CCN2	ORPHA:220402
HP:0001009	Telangiectasia	3663	IRF5	ORPHA:220402
HP:0001009	Telangiectasia	857	CAV1	ORPHA:220402
HP:0001009	Telangiectasia	3123	HLA-DRB1	ORPHA:220402
HP:0001009	Telangiectasia	2717	GLA	ORPHA:324
HP:0001009	Telangiectasia	55699	IARS2	OMIM:616007
HP:0001009	Telangiectasia	118429	ANTXR2	ORPHA:2176
HP:0001009	Telangiectasia	7518	XRCC4	ORPHA:99812
HP:0001009	Telangiectasia	81031	SLC2A10	ORPHA:3342
HP:0001009	Telangiectasia	1540	CYLD	ORPHA:867
HP:0001009	Telangiectasia	1540	CYLD	ORPHA:211
HP:0001009	Telangiectasia	7486	WRN	ORPHA:902
HP:0001009	Telangiectasia	11322	TMC6	ORPHA:302
HP:0001009	Telangiectasia	3574	IL7	ORPHA:302
HP:0001009	Telangiectasia	147138	TMC8	ORPHA:302
HP:0001009	Telangiectasia	10519	CIB1	ORPHA:302
HP:0001009	Telangiectasia	8517	IKBKG	ORPHA:464
HP:0001009	Telangiectasia	63916	ELMO2	ORPHA:3019
HP:0001009	Telangiectasia	55612	FERMT1	OMIM:173650
HP:0001009	Telangiectasia	2767	GNA11	ORPHA:1556
HP:0001009	Telangiectasia	151188	ARL6IP6	ORPHA:1556
HP:0001009	Telangiectasia	4000	LMNA	OMIM:212112
HP:0001009	Telangiectasia	4000	LMNA	ORPHA:79474
HP:0001009	Telangiectasia	1281	COL3A1	ORPHA:286
HP:0001009	Telangiectasia	1281	COL3A1	ORPHA:2500
HP:0001009	Telangiectasia	5424	POLD1	OMIM:615381
HP:0001009	Telangiectasia	26277	TINF2	ORPHA:1775
HP:0001009	Telangiectasia	55651	NHP2	ORPHA:1775
HP:0001009	Telangiectasia	55135	WRAP53	ORPHA:1775
HP:0001009	Telangiectasia	51750	RTEL1	ORPHA:1775
HP:0001009	Telangiectasia	4869	NPM1	ORPHA:1775
HP:0001009	Telangiectasia	7012	TERC	ORPHA:1775
HP:0001009	Telangiectasia	55505	NOP10	ORPHA:1775
HP:0001009	Telangiectasia	5073	PARN	ORPHA:1775
HP:0001009	Telangiectasia	7015	TERT	ORPHA:1775
HP:0001009	Telangiectasia	1736	DKC1	ORPHA:1775
HP:0001009	Telangiectasia	7298	TYMS	ORPHA:1775
HP:0001009	Telangiectasia	5167	ENPP1	ORPHA:758
HP:0001009	Telangiectasia	368	ABCC6	ORPHA:758
HP:0001009	Telangiectasia	4763	NF1	ORPHA:97685
HP:0025090	Abnormal large intestinal mucosa morphology	4072	EPCAM	ORPHA:92050
HP:0025090	Abnormal large intestinal mucosa morphology	105371045	PERCC1	ORPHA:92050
HP:0025090	Abnormal large intestinal mucosa morphology	1493	CTLA4	OMIM:616100
HP:0025090	Abnormal large intestinal mucosa morphology	1493	CTLA4	ORPHA:436159
HP:0025092	Epidermal acanthosis	59344	ALOXE3	OMIM:242100
HP:0025092	Epidermal acanthosis	242	ALOX12B	OMIM:242100
HP:0025092	Epidermal acanthosis	126410	CYP4F22	OMIM:604777
HP:0025092	Epidermal acanthosis	7051	TGM1	OMIM:242300
HP:0025092	Epidermal acanthosis	7051	TGM1	ORPHA:100976
HP:0025092	Epidermal acanthosis	10804	GJB6	ORPHA:477
HP:0025092	Epidermal acanthosis	2706	GJB2	ORPHA:477
HP:0025092	Epidermal acanthosis	10519	CIB1	OMIM:618267
HP:0025092	Epidermal acanthosis	348938	NIPAL4	OMIM:612281
HP:0025092	Epidermal acanthosis	1041	CDSN	ORPHA:90368
HP:0025092	Epidermal acanthosis	121391	KRT74	ORPHA:90368
HP:0025092	Epidermal acanthosis	11012	KLK11	OMIM:620507
HP:0025092	Epidermal acanthosis	8710	SERPINB7	OMIM:615598
HP:0025092	Epidermal acanthosis	79755	ZNF750	OMIM:610227
HP:0025092	Epidermal acanthosis	56916	SMARCAD1	OMIM:129200
HP:0025092	Epidermal acanthosis	56916	SMARCAD1	OMIM:181600
HP:0025092	Epidermal acanthosis	79719	AAGAB	OMIM:148600
HP:0025092	Epidermal acanthosis	79719	AAGAB	ORPHA:79501
HP:0025092	Epidermal acanthosis	7373	COL14A1	ORPHA:79501
HP:0025092	Epidermal acanthosis	10999	SLC27A4	OMIM:608649
HP:0025092	Epidermal acanthosis	3848	KRT1	OMIM:113800
HP:0025092	Epidermal acanthosis	3848	KRT1	ORPHA:2199
HP:0025092	Epidermal acanthosis	3728	JUP	OMIM:601214
HP:0025092	Epidermal acanthosis	831	CAST	OMIM:616295
HP:0025092	Epidermal acanthosis	57152	SLURP1	ORPHA:87503
HP:0025092	Epidermal acanthosis	22861	NLRP1	OMIM:617388
HP:0025092	Epidermal acanthosis	22861	NLRP1	OMIM:615225
HP:0025092	Epidermal acanthosis	3858	KRT10	OMIM:620707
HP:0025092	Epidermal acanthosis	5167	ENPP1	OMIM:615522
HP:0025092	Epidermal acanthosis	51360	MBTPS2	OMIM:300918
HP:0025092	Epidermal acanthosis	207	AKT1	OMIM:176920
HP:0025092	Epidermal acanthosis	1825	DSC3	OMIM:613102
HP:0025092	Epidermal acanthosis	488	ATP2A2	OMIM:101900
HP:0025092	Epidermal acanthosis	488	ATP2A2	ORPHA:79151
HP:0025092	Epidermal acanthosis	3557	IL1RN	OMIM:612852
HP:0025092	Epidermal acanthosis	643418	LIPN	OMIM:613943
HP:0025092	Epidermal acanthosis	64065	PERP	OMIM:619208
HP:0025092	Epidermal acanthosis	9076	CLDN1	OMIM:607626
HP:0025092	Epidermal acanthosis	1956	EGFR	OMIM:616069
HP:0025092	Epidermal acanthosis	2707	GJB3	OMIM:133200
HP:0025092	Epidermal acanthosis	50814	NSDHL	OMIM:308050
HP:0025092	Epidermal acanthosis	79977	GRHL2	OMIM:616029
HP:0025092	Epidermal acanthosis	64834	ELOVL1	OMIM:618527
HP:0025092	Epidermal acanthosis	56983	POGLUT1	OMIM:615696
HP:0025092	Epidermal acanthosis	5271	SERPINB8	OMIM:617115
HP:0025092	Epidermal acanthosis	286887	KRT6C	OMIM:615735
HP:0025092	Epidermal acanthosis	3868	KRT16	ORPHA:2199
HP:0025092	Epidermal acanthosis	3857	KRT9	ORPHA:2199
HP:0025092	Epidermal acanthosis	26525	IL36RN	OMIM:614204
HP:0025092	Epidermal acanthosis	80326	WNT10A	OMIM:257980
HP:0025092	Epidermal acanthosis	1828	DSG1	OMIM:148700
HP:0025092	Epidermal acanthosis	1832	DSP	OMIM:612908
HP:0025092	Epidermal acanthosis	1475	CSTA	OMIM:607936
HP:0025092	Epidermal acanthosis	79092	CARD14	OMIM:602723
HP:0025092	Epidermal acanthosis	204219	CERS3	OMIM:615023
HP:0025092	Epidermal acanthosis	2697	GJA1	OMIM:617525
HP:0025092	Epidermal acanthosis	23086	EXPH5	OMIM:615028
HP:0025092	Epidermal acanthosis	3860	KRT13	OMIM:615785
HP:0025092	Epidermal acanthosis	2531	KDSR	OMIM:617526
HP:0025092	Epidermal acanthosis	4014	LORICRIN	ORPHA:79395
HP:0025097	Eyelid myoclonus	6095	RORA	OMIM:618060
HP:0025097	Eyelid myoclonus	3747	KCNC2	OMIM:619913
HP:0025097	Eyelid myoclonus	478	ATP1A3	OMIM:619606
HP:0025097	Eyelid myoclonus	427	ASAH1	ORPHA:2590
HP:0025097	Eyelid myoclonus	8398	PLA2G6	OMIM:612953
HP:0025097	Eyelid myoclonus	6096	RORB	OMIM:618357
HP:0025097	Eyelid myoclonus	6529	SLC6A1	OMIM:616421
HP:0025097	Eyelid myoclonus	1719	DHFR	OMIM:613839
HP:0025097	Eyelid myoclonus	2902	GRIN1	ORPHA:208447
HP:0025099	Dysgenesis of the thalamus	54820	NDE1	ORPHA:2177
HP:0007468	Perifollicular hyperkeratosis	3892	KRT86	OMIM:158000
HP:0007468	Perifollicular hyperkeratosis	3887	KRT81	OMIM:158000
HP:0007468	Perifollicular hyperkeratosis	3889	KRT83	OMIM:158000
HP:0007468	Perifollicular hyperkeratosis	3122	HLA-DRA	ORPHA:505
HP:0007469	Palmoplantar cutis gyrata	2263	FGFR2	ORPHA:1555
HP:0007469	Palmoplantar cutis gyrata	11285	B4GALT7	ORPHA:75496
HP:0007469	Palmoplantar cutis gyrata	11285	B4GALT7	OMIM:130070
HP:0007452	Midface capillary hemangioma	157570	ESCO2	OMIM:268300
HP:0007452	Midface capillary hemangioma	157570	ESCO2	ORPHA:3103
HP:0007452	Midface capillary hemangioma	9401	RECQL4	OMIM:218600
HP:0007453	Flexural lichenification	3858	KRT10	OMIM:607602
HP:0007455	Adermatoglyphia	1308	COL17A1	ORPHA:79406
HP:0007455	Adermatoglyphia	3861	KRT14	OMIM:161000
HP:0007455	Adermatoglyphia	3861	KRT14	ORPHA:69087
HP:0007455	Adermatoglyphia	3861	KRT14	OMIM:125595
HP:0007455	Adermatoglyphia	56916	SMARCAD1	OMIM:136000
HP:0007455	Adermatoglyphia	56916	SMARCAD1	OMIM:181600
HP:0007455	Adermatoglyphia	56916	SMARCAD1	OMIM:129200
HP:0007455	Adermatoglyphia	8626	TP63	OMIM:103285
HP:0007456	Progressive reticulate hyperpigmentation	3852	KRT5	OMIM:179850
HP:0007456	Progressive reticulate hyperpigmentation	3852	KRT5	ORPHA:79145
HP:0007456	Progressive reticulate hyperpigmentation	56983	POGLUT1	ORPHA:79145
HP:0007456	Progressive reticulate hyperpigmentation	23509	POFUT1	ORPHA:79145
HP:0007456	Progressive reticulate hyperpigmentation	55851	PSENEN	ORPHA:79145
HP:0007457	Prominent veins on trunk	23545	ATP6V0A2	ORPHA:2834
HP:0007457	Prominent veins on trunk	23545	ATP6V0A2	ORPHA:357074
HP:0007457	Prominent veins on trunk	5468	PPARG	ORPHA:79083
HP:0007457	Prominent veins on trunk	165	AEBP1	ORPHA:536532
HP:0007457	Prominent veins on trunk	523	ATP6V1A	ORPHA:357074
HP:0007457	Prominent veins on trunk	529	ATP6V1E1	ORPHA:357074
HP:0007459	Generalized anhidrosis	3709	ITPR2	OMIM:106190
HP:0001010	Hypopigmentation of the skin	1497	CTNS	OMIM:219800
HP:0001010	Hypopigmentation of the skin	875	CBS	ORPHA:394
HP:0001010	Hypopigmentation of the skin	875	CBS	OMIM:236200
HP:0001010	Hypopigmentation of the skin	5122	PCSK1	ORPHA:71528
HP:0001010	Hypopigmentation of the skin	7355	SLC35A2	ORPHA:356961
HP:0001010	Hypopigmentation of the skin	5443	POMC	ORPHA:71526
HP:0001010	Hypopigmentation of the skin	84942	WDR73	OMIM:251300
HP:0001010	Hypopigmentation of the skin	64324	NSD1	ORPHA:821
HP:0001010	Hypopigmentation of the skin	10297	APC2	ORPHA:821
HP:0001010	Hypopigmentation of the skin	1638	DCT	OMIM:619165
HP:0001010	Hypopigmentation of the skin	6492	SIM1	ORPHA:398079
HP:0001010	Hypopigmentation of the skin	28960	DCPS	OMIM:616459
HP:0001010	Hypopigmentation of the skin	1130	LYST	OMIM:214500
HP:0001010	Hypopigmentation of the skin	1130	LYST	ORPHA:167
HP:0001010	Hypopigmentation of the skin	5053	PAH	ORPHA:79254
HP:0001010	Hypopigmentation of the skin	79158	GNPTAB	OMIM:252500
HP:0001010	Hypopigmentation of the skin	7337	UBE3A	ORPHA:98794
HP:0001010	Hypopigmentation of the skin	7337	UBE3A	ORPHA:98795
HP:0001010	Hypopigmentation of the skin	7337	UBE3A	OMIM:105830
HP:0001010	Hypopigmentation of the skin	7337	UBE3A	ORPHA:411511
HP:0001010	Hypopigmentation of the skin	7337	UBE3A	ORPHA:411515
HP:0001010	Hypopigmentation of the skin	4948	OCA2	ORPHA:98794
HP:0001010	Hypopigmentation of the skin	4948	OCA2	ORPHA:177904
HP:0001010	Hypopigmentation of the skin	4948	OCA2	ORPHA:177901
HP:0001010	Hypopigmentation of the skin	4948	OCA2	ORPHA:98754
HP:0001010	Hypopigmentation of the skin	4948	OCA2	OMIM:203200
HP:0001010	Hypopigmentation of the skin	4948	OCA2	ORPHA:79432
HP:0001010	Hypopigmentation of the skin	6638	SNRPN	ORPHA:177904
HP:0001010	Hypopigmentation of the skin	6638	SNRPN	ORPHA:177901
HP:0001010	Hypopigmentation of the skin	6638	SNRPN	ORPHA:177910
HP:0001010	Hypopigmentation of the skin	6638	SNRPN	ORPHA:177907
HP:0001010	Hypopigmentation of the skin	6638	SNRPN	OMIM:105830
HP:0001010	Hypopigmentation of the skin	6638	SNRPN	ORPHA:98754
HP:0001010	Hypopigmentation of the skin	6638	SNRPN	ORPHA:411515
HP:0001010	Hypopigmentation of the skin	4692	NDN	ORPHA:177904
HP:0001010	Hypopigmentation of the skin	4692	NDN	ORPHA:177901
HP:0001010	Hypopigmentation of the skin	4692	NDN	ORPHA:177910
HP:0001010	Hypopigmentation of the skin	4692	NDN	ORPHA:98754
HP:0001010	Hypopigmentation of the skin	54551	MAGEL2	ORPHA:177904
HP:0001010	Hypopigmentation of the skin	54551	MAGEL2	ORPHA:177901
HP:0001010	Hypopigmentation of the skin	54551	MAGEL2	ORPHA:398069
HP:0001010	Hypopigmentation of the skin	54551	MAGEL2	ORPHA:177910
HP:0001010	Hypopigmentation of the skin	54551	MAGEL2	ORPHA:98754
HP:0001010	Hypopigmentation of the skin	3861	KRT14	ORPHA:89838
HP:0001010	Hypopigmentation of the skin	3861	KRT14	ORPHA:69087
HP:0001010	Hypopigmentation of the skin	3861	KRT14	ORPHA:79396
HP:0001010	Hypopigmentation of the skin	284058	KANSL1	ORPHA:363958
HP:0001010	Hypopigmentation of the skin	284058	KANSL1	ORPHA:363965
HP:0001010	Hypopigmentation of the skin	4286	MITF	ORPHA:42665
HP:0001010	Hypopigmentation of the skin	114034	TOE1	OMIM:614969
HP:0001010	Hypopigmentation of the skin	7389	UROD	ORPHA:95159
HP:0001010	Hypopigmentation of the skin	26258	BLOC1S6	OMIM:614171
HP:0001010	Hypopigmentation of the skin	5498	PPOX	ORPHA:79473
HP:0001010	Hypopigmentation of the skin	56244	BTNL2	ORPHA:797
HP:0001010	Hypopigmentation of the skin	3123	HLA-DRB1	ORPHA:797
HP:0001010	Hypopigmentation of the skin	64840	PORCN	OMIM:305600
HP:0001010	Hypopigmentation of the skin	7299	TYR	OMIM:606952
HP:0001010	Hypopigmentation of the skin	7299	TYR	ORPHA:79431
HP:0001010	Hypopigmentation of the skin	7299	TYR	ORPHA:79434
HP:0001010	Hypopigmentation of the skin	1186	CLCN7	OMIM:618541
HP:0001010	Hypopigmentation of the skin	54800	KLHL24	OMIM:617294
HP:0001010	Hypopigmentation of the skin	6711	SPTBN1	OMIM:619475
HP:0001010	Hypopigmentation of the skin	9401	RECQL4	ORPHA:221016
HP:0001010	Hypopigmentation of the skin	3257	HPS1	OMIM:203300
HP:0001010	Hypopigmentation of the skin	538	ATP7A	OMIM:309400
HP:0001010	Hypopigmentation of the skin	4893	NRAS	OMIM:163200
HP:0001010	Hypopigmentation of the skin	3845	KRAS	OMIM:163200
HP:0001010	Hypopigmentation of the skin	3265	HRAS	OMIM:163200
HP:0001010	Hypopigmentation of the skin	4644	MYO5A	ORPHA:33445
HP:0001010	Hypopigmentation of the skin	4644	MYO5A	OMIM:214450
HP:0001010	Hypopigmentation of the skin	374879	ZNF699	OMIM:619488
HP:0001010	Hypopigmentation of the skin	84343	HPS3	OMIM:614072
HP:0001010	Hypopigmentation of the skin	79803	HPS6	OMIM:614075
HP:0001010	Hypopigmentation of the skin	641	BLM	OMIM:210900
HP:0001010	Hypopigmentation of the skin	641	BLM	ORPHA:125
HP:0001010	Hypopigmentation of the skin	55717	WDR11	OMIM:620237
HP:0001010	Hypopigmentation of the skin	28956	LAMTOR2	OMIM:610798
HP:0001010	Hypopigmentation of the skin	57724	EPG5	OMIM:242840
HP:0001010	Hypopigmentation of the skin	57724	EPG5	ORPHA:1493
HP:0001010	Hypopigmentation of the skin	7030	TFE3	OMIM:301066
HP:0001010	Hypopigmentation of the skin	5873	RAB27A	OMIM:607624
HP:0001010	Hypopigmentation of the skin	348	APOE	ORPHA:158029
HP:0001010	Hypopigmentation of the skin	7390	UROS	OMIM:263700
HP:0001010	Hypopigmentation of the skin	7390	UROS	ORPHA:79277
HP:0001010	Hypopigmentation of the skin	26503	SLC17A5	OMIM:269920
HP:0001010	Hypopigmentation of the skin	4157	MC1R	OMIM:203200
HP:0001010	Hypopigmentation of the skin	4157	MC1R	ORPHA:79432
HP:0001010	Hypopigmentation of the skin	10195	ALG3	ORPHA:79321
HP:0001010	Hypopigmentation of the skin	7508	XPC	OMIM:278720
HP:0001010	Hypopigmentation of the skin	5429	POLH	ORPHA:90342
HP:0001010	Hypopigmentation of the skin	4292	MLH1	OMIM:276300
HP:0001010	Hypopigmentation of the skin	3991	LIPE	OMIM:615980
HP:0001010	Hypopigmentation of the skin	4254	KITLG	OMIM:619947
HP:0001010	Hypopigmentation of the skin	3852	KRT5	ORPHA:79396
HP:0001010	Hypopigmentation of the skin	57194	ATP10A	ORPHA:411515
HP:0001010	Hypopigmentation of the skin	2623	GATA1	ORPHA:79277
HP:0001010	Hypopigmentation of the skin	7306	TYRP1	ORPHA:79433
HP:0001010	Hypopigmentation of the skin	51151	SLC45A2	ORPHA:79435
HP:0001010	Hypopigmentation of the skin	64682	ANAPC1	ORPHA:221008
HP:0001010	Hypopigmentation of the skin	63915	BLOC1S5	OMIM:619172
HP:0001010	Hypopigmentation of the skin	8943	AP3D1	OMIM:617050
HP:0001010	Hypopigmentation of the skin	11152	WDR45	OMIM:615179
HP:0001010	Hypopigmentation of the skin	83938	LRMDA	OMIM:615179
HP:0001010	Hypopigmentation of the skin	89781	HPS4	OMIM:614073
HP:0001010	Hypopigmentation of the skin	11234	HPS5	OMIM:614074
HP:0001010	Hypopigmentation of the skin	84062	DTNBP1	OMIM:614076
HP:0001010	Hypopigmentation of the skin	57167	SALL4	ORPHA:233
HP:0001010	Hypopigmentation of the skin	9935	MAFB	ORPHA:233
HP:0001010	Hypopigmentation of the skin	1123	CHN1	ORPHA:233
HP:0001010	Hypopigmentation of the skin	2261	FGFR3	ORPHA:53271
HP:0001010	Hypopigmentation of the skin	6660	SOX5	ORPHA:626
HP:0001010	Hypopigmentation of the skin	238	ALK	ORPHA:626
HP:0001010	Hypopigmentation of the skin	9839	ZEB2	ORPHA:626
HP:0001010	Hypopigmentation of the skin	673	BRAF	ORPHA:626
HP:0001010	Hypopigmentation of the skin	5894	RAF1	ORPHA:626
HP:0001010	Hypopigmentation of the skin	1235	CCR6	ORPHA:220402
HP:0001010	Hypopigmentation of the skin	79932	KIAA0319L	ORPHA:220402
HP:0001010	Hypopigmentation of the skin	1490	CCN2	ORPHA:220402
HP:0001010	Hypopigmentation of the skin	3663	IRF5	ORPHA:220402
HP:0001010	Hypopigmentation of the skin	857	CAV1	ORPHA:220402
HP:0001010	Hypopigmentation of the skin	11322	TMC6	ORPHA:302
HP:0001010	Hypopigmentation of the skin	3574	IL7	ORPHA:302
HP:0001010	Hypopigmentation of the skin	147138	TMC8	ORPHA:302
HP:0001010	Hypopigmentation of the skin	10519	CIB1	ORPHA:302
HP:0001010	Hypopigmentation of the skin	6925	TCF4	ORPHA:2896
HP:0001010	Hypopigmentation of the skin	8517	IKBKG	ORPHA:464
HP:0001010	Hypopigmentation of the skin	6663	SOX10	OMIM:613266
HP:0001010	Hypopigmentation of the skin	6663	SOX10	OMIM:609136
HP:0001010	Hypopigmentation of the skin	6663	SOX10	ORPHA:895
HP:0001010	Hypopigmentation of the skin	6663	SOX10	ORPHA:163746
HP:0001010	Hypopigmentation of the skin	6663	SOX10	OMIM:611584
HP:0001010	Hypopigmentation of the skin	1908	EDN3	OMIM:613265
HP:0001010	Hypopigmentation of the skin	6608	SMO	ORPHA:1553
HP:0001010	Hypopigmentation of the skin	1910	EDNRB	OMIM:277580
HP:0001010	Hypopigmentation of the skin	1910	EDNRB	ORPHA:895
HP:0001010	Hypopigmentation of the skin	326	AIRE	ORPHA:3453
HP:0001010	Hypopigmentation of the skin	6591	SNAI2	ORPHA:2884
HP:0001010	Hypopigmentation of the skin	6591	SNAI2	ORPHA:895
HP:0001010	Hypopigmentation of the skin	3815	KIT	ORPHA:2884
HP:0001010	Hypopigmentation of the skin	695	BTK	ORPHA:47
HP:0001010	Hypopigmentation of the skin	5077	PAX3	ORPHA:894
HP:0001010	Hypopigmentation of the skin	5077	PAX3	OMIM:148820
HP:0001010	Hypopigmentation of the skin	340024	SLC6A19	ORPHA:2116
HP:0001010	Hypopigmentation of the skin	57393	CLTRN	ORPHA:2116
HP:0001010	Hypopigmentation of the skin	5116	PCNT	ORPHA:2637
HP:0001010	Hypopigmentation of the skin	2263	FGFR2	ORPHA:207
HP:0001010	Hypopigmentation of the skin	2077	ERF	ORPHA:207
HP:0001010	Hypopigmentation of the skin	2581	GALC	ORPHA:206436
HP:0001010	Hypopigmentation of the skin	5660	PSAP	ORPHA:206436
HP:0001010	Hypopigmentation of the skin	672	BRCA1	ORPHA:84
HP:0001010	Hypopigmentation of the skin	10459	MAD2L2	ORPHA:84
HP:0001010	Hypopigmentation of the skin	7516	XRCC2	ORPHA:84
HP:0001010	Hypopigmentation of the skin	29089	UBE2T	ORPHA:84
HP:0001010	Hypopigmentation of the skin	675	BRCA2	ORPHA:84
HP:0001010	Hypopigmentation of the skin	55120	FANCL	ORPHA:84
HP:0001010	Hypopigmentation of the skin	2177	FANCD2	ORPHA:84
HP:0001010	Hypopigmentation of the skin	2175	FANCA	ORPHA:84
HP:0001010	Hypopigmentation of the skin	2187	FANCB	ORPHA:84
HP:0001010	Hypopigmentation of the skin	2176	FANCC	ORPHA:84
HP:0001010	Hypopigmentation of the skin	2178	FANCE	ORPHA:84
HP:0001010	Hypopigmentation of the skin	2188	FANCF	ORPHA:84
HP:0001010	Hypopigmentation of the skin	2189	FANCG	ORPHA:84
HP:0001010	Hypopigmentation of the skin	5888	RAD51	ORPHA:84
HP:0001010	Hypopigmentation of the skin	5889	RAD51C	ORPHA:84
HP:0001010	Hypopigmentation of the skin	55159	RFWD3	ORPHA:84
HP:0001010	Hypopigmentation of the skin	83990	BRIP1	ORPHA:84
HP:0001010	Hypopigmentation of the skin	57697	FANCM	ORPHA:84
HP:0001010	Hypopigmentation of the skin	79728	PALB2	ORPHA:84
HP:0001010	Hypopigmentation of the skin	84464	SLX4	ORPHA:84
HP:0001010	Hypopigmentation of the skin	2072	ERCC4	ORPHA:84
HP:0001010	Hypopigmentation of the skin	2072	ERCC4	ORPHA:910
HP:0001010	Hypopigmentation of the skin	55215	FANCI	ORPHA:84
HP:0001010	Hypopigmentation of the skin	1312	COMT	ORPHA:567
HP:0001010	Hypopigmentation of the skin	221037	JMJD1C	ORPHA:567
HP:0001010	Hypopigmentation of the skin	2812	GP1BB	ORPHA:567
HP:0001010	Hypopigmentation of the skin	6239	RREB1	ORPHA:567
HP:0001010	Hypopigmentation of the skin	6899	TBX1	ORPHA:567
HP:0001010	Hypopigmentation of the skin	7290	HIRA	ORPHA:567
HP:0001010	Hypopigmentation of the skin	9632	SEC24C	ORPHA:567
HP:0001010	Hypopigmentation of the skin	7353	UFD1	ORPHA:567
HP:0001010	Hypopigmentation of the skin	421	ARVCF	ORPHA:567
HP:0001010	Hypopigmentation of the skin	54539	NDUFB11	ORPHA:2556
HP:0001010	Hypopigmentation of the skin	1349	COX7B	ORPHA:2556
HP:0001010	Hypopigmentation of the skin	3052	HCCS	ORPHA:2556
HP:0001010	Hypopigmentation of the skin	10483	SEC23B	ORPHA:201
HP:0001010	Hypopigmentation of the skin	5728	PTEN	ORPHA:201
HP:0001010	Hypopigmentation of the skin	6390	SDHB	ORPHA:201
HP:0001010	Hypopigmentation of the skin	6392	SDHD	ORPHA:201
HP:0001010	Hypopigmentation of the skin	6391	SDHC	ORPHA:201
HP:0001010	Hypopigmentation of the skin	207	AKT1	ORPHA:201
HP:0001010	Hypopigmentation of the skin	205717	USF3	ORPHA:201
HP:0001010	Hypopigmentation of the skin	5290	PIK3CA	ORPHA:201
HP:0001010	Hypopigmentation of the skin	100144748	KLLN	ORPHA:201
HP:0001010	Hypopigmentation of the skin	117581	TWIST2	ORPHA:1807
HP:0001010	Hypopigmentation of the skin	10058	ABCB6	ORPHA:241
HP:0001010	Hypopigmentation of the skin	80169	CTC1	ORPHA:1775
HP:0001010	Hypopigmentation of the skin	26277	TINF2	ORPHA:1775
HP:0001010	Hypopigmentation of the skin	55651	NHP2	ORPHA:1775
HP:0001010	Hypopigmentation of the skin	79650	USB1	ORPHA:1775
HP:0001010	Hypopigmentation of the skin	55135	WRAP53	ORPHA:1775
HP:0001010	Hypopigmentation of the skin	51750	RTEL1	ORPHA:1775
HP:0001010	Hypopigmentation of the skin	4869	NPM1	ORPHA:1775
HP:0001010	Hypopigmentation of the skin	7012	TERC	ORPHA:1775
HP:0001010	Hypopigmentation of the skin	55505	NOP10	ORPHA:1775
HP:0001010	Hypopigmentation of the skin	5073	PARN	ORPHA:1775
HP:0001010	Hypopigmentation of the skin	7015	TERT	ORPHA:1775
HP:0001010	Hypopigmentation of the skin	1736	DKC1	ORPHA:1775
HP:0001010	Hypopigmentation of the skin	7298	TYMS	ORPHA:1775
HP:0001010	Hypopigmentation of the skin	355	FAS	ORPHA:3437
HP:0001010	Hypopigmentation of the skin	26191	PTPN22	ORPHA:3437
HP:0001010	Hypopigmentation of the skin	2475	MTOR	ORPHA:457485
HP:0001010	Hypopigmentation of the skin	84168	ANTXR1	ORPHA:2067
HP:0001010	Hypopigmentation of the skin	1493	CTLA4	ORPHA:2584
HP:0001010	Hypopigmentation of the skin	940	CD28	ORPHA:2584
HP:0001010	Hypopigmentation of the skin	7133	TNFRSF1B	ORPHA:2584
HP:0001010	Hypopigmentation of the skin	2068	ERCC2	ORPHA:910
HP:0001010	Hypopigmentation of the skin	7507	XPA	ORPHA:910
HP:0001010	Hypopigmentation of the skin	2071	ERCC3	ORPHA:910
HP:0001010	Hypopigmentation of the skin	1643	DDB2	ORPHA:910
HP:0001010	Hypopigmentation of the skin	2073	ERCC5	ORPHA:910
HP:0001010	Hypopigmentation of the skin	1075	CTSC	ORPHA:678
HP:0001010	Hypopigmentation of the skin	10682	EBP	ORPHA:401973
HP:0001010	Hypopigmentation of the skin	10682	EBP	OMIM:300960
HP:0001010	Hypopigmentation of the skin	7319	UBE2A	OMIM:300860
HP:0001010	Hypopigmentation of the skin	55612	FERMT1	OMIM:173650
HP:0001010	Hypopigmentation of the skin	9419	CRIPT	OMIM:615789
HP:0001010	Hypopigmentation of the skin	10060	ABCC9	OMIM:619719
HP:0001010	Hypopigmentation of the skin	23556	PIGN	ORPHA:280633
HP:0001010	Hypopigmentation of the skin	91039	DPP9	OMIM:620331
HP:0001010	Hypopigmentation of the skin	103	ADAR	OMIM:127400
HP:0001010	Hypopigmentation of the skin	7543	ZFX	OMIM:301118
HP:0001010	Hypopigmentation of the skin	79083	MLPH	ORPHA:79478
HP:0001010	Hypopigmentation of the skin	6611	SMS	ORPHA:3063
HP:0001010	Hypopigmentation of the skin	4000	LMNA	ORPHA:79474
HP:0001010	Hypopigmentation of the skin	388552	BLOC1S3	OMIM:614077
HP:0001010	Hypopigmentation of the skin	9652	SKIC3	OMIM:222470
HP:0001010	Hypopigmentation of the skin	9652	SKIC3	ORPHA:84064
HP:0001010	Hypopigmentation of the skin	8882	ZPR1	OMIM:619321
HP:0001010	Hypopigmentation of the skin	283652	SLC24A5	OMIM:113750
HP:0001010	Hypopigmentation of the skin	8626	TP63	ORPHA:1896
HP:0001010	Hypopigmentation of the skin	8626	TP63	OMIM:604292
HP:0001010	Hypopigmentation of the skin	6499	SKIC2	ORPHA:84064
HP:0001010	Hypopigmentation of the skin	4952	OCRL	ORPHA:534
HP:0001010	Hypopigmentation of the skin	100033413	SNORD116-1	OMIM:176270
HP:0001010	Hypopigmentation of the skin	8924	HERC2	OMIM:176270
HP:0001010	Hypopigmentation of the skin	23742	NPAP1	OMIM:176270
HP:0001010	Hypopigmentation of the skin	338433	SNORD115-1	OMIM:176270
HP:0001010	Hypopigmentation of the skin	7681	MKRN3	OMIM:176270
HP:0001010	Hypopigmentation of the skin	145624	PWAR1	OMIM:176270
HP:0001010	Hypopigmentation of the skin	3653	IPW	OMIM:176270
HP:0001010	Hypopigmentation of the skin	791114	PWRN1	OMIM:176270
HP:0001010	Hypopigmentation of the skin	8546	AP3B1	OMIM:608233
HP:0001010	Hypopigmentation of the skin	54	ACP5	OMIM:607944
HP:0001010	Hypopigmentation of the skin	56983	POGLUT1	ORPHA:79145
HP:0001010	Hypopigmentation of the skin	23509	POFUT1	ORPHA:79145
HP:0001010	Hypopigmentation of the skin	55851	PSENEN	ORPHA:79145
HP:0001010	Hypopigmentation of the skin	3458	IFNG	OMIM:613254
HP:0001010	Hypopigmentation of the skin	3458	IFNG	ORPHA:805
HP:0001010	Hypopigmentation of the skin	7249	TSC2	OMIM:613254
HP:0001010	Hypopigmentation of the skin	7249	TSC2	ORPHA:805
HP:0001010	Hypopigmentation of the skin	7248	TSC1	ORPHA:805
HP:0001010	Hypopigmentation of the skin	7248	TSC1	OMIM:191100
HP:0001010	Hypopigmentation of the skin	134218	DNAJC21	OMIM:617052
HP:0001010	Hypopigmentation of the skin	23328	SASH1	OMIM:618373
HP:0001012	Multiple lipomas	4558	MT-TF	ORPHA:551
HP:0001012	Multiple lipomas	4567	MT-TL1	ORPHA:551
HP:0001012	Multiple lipomas	4549	MT-RNR1	ORPHA:551
HP:0001012	Multiple lipomas	4574	MT-TS1	ORPHA:551
HP:0001012	Multiple lipomas	4575	MT-TS2	ORPHA:551
HP:0001012	Multiple lipomas	4571	MT-TP	ORPHA:551
HP:0001012	Multiple lipomas	4572	MT-TQ	ORPHA:551
HP:0001012	Multiple lipomas	4540	MT-ND5	ORPHA:551
HP:0001012	Multiple lipomas	4566	MT-TK	ORPHA:551
HP:0001012	Multiple lipomas	4566	MT-TK	ORPHA:1349
HP:0001012	Multiple lipomas	4564	MT-TH	ORPHA:551
HP:0001012	Multiple lipomas	5290	PIK3CA	ORPHA:276280
HP:0001012	Multiple lipomas	4221	MEN1	ORPHA:652
HP:0001012	Multiple lipomas	1027	CDKN1B	ORPHA:652
HP:0001012	Multiple lipomas	1026	CDKN1A	ORPHA:652
HP:0001012	Multiple lipomas	1030	CDKN2B	ORPHA:652
HP:0001012	Multiple lipomas	1031	CDKN2C	ORPHA:652
HP:0001012	Multiple lipomas	55154	MSTO1	OMIM:617675
HP:0001012	Multiple lipomas	161742	SPRED1	OMIM:611431
HP:0001012	Multiple lipomas	161742	SPRED1	ORPHA:137605
HP:0001012	Multiple lipomas	9927	MFN2	OMIM:151800
HP:0001012	Multiple lipomas	9927	MFN2	ORPHA:2398
HP:0001012	Multiple lipomas	2260	FGFR1	ORPHA:2396
HP:0001012	Multiple lipomas	3845	KRAS	ORPHA:2396
HP:0001012	Multiple lipomas	324	APC	OMIM:175100
HP:0001012	Multiple lipomas	6347	CCL2	OMIM:182940
HP:0001012	Multiple lipomas	81839	VANGL1	OMIM:182940
HP:0001012	Multiple lipomas	80199	FUZ	OMIM:182940
HP:0001012	Multiple lipomas	6862	TBXT	OMIM:182940
HP:0001012	Multiple lipomas	57216	VANGL2	OMIM:182940
HP:0001012	Multiple lipomas	56980	PRDM10	ORPHA:122
HP:0001012	Multiple lipomas	56980	PRDM10	OMIM:620459
HP:0001012	Multiple lipomas	201163	FLCN	ORPHA:122
HP:0001012	Multiple lipomas	201163	FLCN	OMIM:135150
HP:0001012	Multiple lipomas	284252	KCTD1	OMIM:181270
HP:0001012	Multiple lipomas	1175	AP2S1	OMIM:600740
HP:0001012	Multiple lipomas	5728	PTEN	ORPHA:210548
HP:0001012	Multiple lipomas	220296	HEPACAM	ORPHA:210548
HP:0001012	Multiple lipomas	207	AKT1	OMIM:176920
HP:0001012	Multiple lipomas	2767	GNA11	OMIM:145981
HP:0001012	Multiple lipomas	5167	ENPP1	ORPHA:758
HP:0001012	Multiple lipomas	368	ABCC6	ORPHA:758
HP:0001012	Multiple lipomas	23592	LEMD3	ORPHA:1879
HP:0001012	Multiple lipomas	657	BMPR1A	ORPHA:79076
HP:0001012	Multiple lipomas	57688	ZSWIM6	ORPHA:1827
HP:0001012	Multiple lipomas	57688	ZSWIM6	OMIM:603671
HP:0001012	Multiple lipomas	257	ALX3	OMIM:136760
HP:0001012	Multiple lipomas	257	ALX3	ORPHA:391474
HP:0001012	Multiple lipomas	8092	ALX1	ORPHA:306542
HP:0001013	Eruptive xanthomas	344	APOC2	OMIM:207750
HP:0001013	Eruptive xanthomas	3990	LIPC	OMIM:614025
HP:0001013	Eruptive xanthomas	3990	LIPC	ORPHA:140905
HP:0001013	Eruptive xanthomas	338328	GPIHBP1	OMIM:615947
HP:0001013	Eruptive xanthomas	4023	LPL	OMIM:238600
HP:0001013	Eruptive xanthomas	348	APOE	ORPHA:412
HP:0001014	Angiokeratoma	2517	FUCA1	OMIM:230000
HP:0001014	Angiokeratoma	2717	GLA	OMIM:301500
HP:0001014	Angiokeratoma	2717	GLA	ORPHA:324
HP:0001014	Angiokeratoma	4126	MANBA	OMIM:248510
HP:0001014	Angiokeratoma	4668	NAGA	ORPHA:79280
HP:0001014	Angiokeratoma	4668	NAGA	OMIM:609242
HP:0001014	Angiokeratoma	175	AGA	OMIM:208400
HP:0001014	Angiokeratoma	2720	GLB1	OMIM:230500
HP:0001015	Prominent superficial veins	5295	PIK3R1	OMIM:269880
HP:0001015	Prominent superficial veins	10269	ZMPSTE24	OMIM:608612
HP:0001015	Prominent superficial veins	716	C1S	OMIM:617174
HP:0001015	Prominent superficial veins	165	AEBP1	OMIM:618000
HP:0001015	Prominent superficial veins	29957	SLC25A24	OMIM:612289
HP:0001015	Prominent superficial veins	92579	G6PC3	OMIM:612541
HP:0001015	Prominent superficial veins	8815	BANF1	OMIM:614008
HP:0001015	Prominent superficial veins	5831	PYCR1	OMIM:612940
HP:0001015	Prominent superficial veins	5831	PYCR1	OMIM:614438
HP:0001015	Prominent superficial veins	5468	PPARG	ORPHA:528
HP:0001015	Prominent superficial veins	5468	PPARG	OMIM:604367
HP:0001015	Prominent superficial veins	10555	AGPAT2	ORPHA:528
HP:0001015	Prominent superficial veins	284119	CAVIN1	ORPHA:528
HP:0001015	Prominent superficial veins	26580	BSCL2	ORPHA:528
HP:0001015	Prominent superficial veins	2353	FOS	ORPHA:528
HP:0001015	Prominent superficial veins	857	CAV1	ORPHA:528
HP:0001015	Prominent superficial veins	25839	COG4	OMIM:618150
HP:0001015	Prominent superficial veins	715	C1R	OMIM:130080
HP:0001015	Prominent superficial veins	221496	LEMD2	OMIM:619322
HP:0001015	Prominent superficial veins	5159	PDGFRB	OMIM:601812
HP:0001015	Prominent superficial veins	2324	FLT4	OMIM:153100
HP:0001015	Prominent superficial veins	4000	LMNA	OMIM:151660
HP:0001015	Prominent superficial veins	4000	LMNA	ORPHA:79474
HP:0001015	Prominent superficial veins	91252	SLC39A13	OMIM:612350
HP:0001015	Prominent superficial veins	529	ATP6V1E1	OMIM:617402
HP:0001015	Prominent superficial veins	84919	PPP1R15B	OMIM:616817
HP:0001015	Prominent superficial veins	7424	VEGFC	OMIM:615907
HP:0001015	Prominent superficial veins	84168	ANTXR1	OMIM:230740
HP:0001015	Prominent superficial veins	9791	PTDSS1	OMIM:151050
HP:0001015	Prominent superficial veins	11128	POLR3A	OMIM:264090
HP:0001015	Prominent superficial veins	11128	POLR3A	ORPHA:3455
HP:0001015	Prominent superficial veins	23545	ATP6V0A2	ORPHA:2834
HP:0001015	Prominent superficial veins	23545	ATP6V0A2	ORPHA:357074
HP:0001015	Prominent superficial veins	523	ATP6V1A	ORPHA:357074
HP:0001015	Prominent superficial veins	2859	GPR35	ORPHA:171
HP:0001015	Prominent superficial veins	10507	SEMA4D	ORPHA:171
HP:0001015	Prominent superficial veins	4485	MST1	ORPHA:171
HP:0001015	Prominent superficial veins	6925	TCF4	ORPHA:171
HP:0007517	Palmoplantar cutis laxa	715	C1R	OMIM:130080
HP:0007517	Palmoplantar cutis laxa	2261	FGFR3	OMIM:616482
HP:0007517	Palmoplantar cutis laxa	22808	MRAS	OMIM:618499
HP:0007517	Palmoplantar cutis laxa	5351	PLOD1	OMIM:225400
HP:0007517	Palmoplantar cutis laxa	8216	LZTR1	OMIM:616564
HP:0007517	Palmoplantar cutis laxa	8216	LZTR1	OMIM:605275
HP:0007517	Palmoplantar cutis laxa	84627	ZNF469	OMIM:229200
HP:0007517	Palmoplantar cutis laxa	6016	RIT1	OMIM:615355
HP:0007517	Palmoplantar cutis laxa	2263	FGFR2	OMIM:123790
HP:0007517	Palmoplantar cutis laxa	23545	ATP6V0A2	OMIM:278250
HP:0001017	Anemic pallor	657	BMPR1A	ORPHA:329971
HP:0001017	Anemic pallor	4089	SMAD4	ORPHA:329971
HP:0001017	Anemic pallor	2022	ENG	ORPHA:329971
HP:0001017	Anemic pallor	212	ALAS2	OMIM:300751
HP:0001017	Anemic pallor	2177	FANCD2	OMIM:227646
HP:0001017	Anemic pallor	164656	TMPRSS6	ORPHA:209981
HP:0001017	Anemic pallor	2176	FANCC	OMIM:227645
HP:0001017	Anemic pallor	2178	FANCE	OMIM:600901
HP:0001017	Anemic pallor	4613	MYCN	ORPHA:635
HP:0001017	Anemic pallor	238	ALK	ORPHA:635
HP:0001017	Anemic pallor	389421	LIN28B	ORPHA:635
HP:0001017	Anemic pallor	4004	LMO1	ORPHA:635
HP:0001017	Anemic pallor	57531	HACE1	ORPHA:635
HP:0001017	Anemic pallor	8929	PHOX2B	ORPHA:635
HP:0001017	Anemic pallor	2175	FANCA	OMIM:227650
HP:0001018	Abnormal palmar dermatoglyphics	58499	ZNF462	ORPHA:502430
HP:0001018	Abnormal palmar dermatoglyphics	58499	ZNF462	OMIM:618619
HP:0001018	Abnormal palmar dermatoglyphics	23394	ADNP	ORPHA:404448
HP:0001018	Abnormal palmar dermatoglyphics	324	APC	ORPHA:261584
HP:0001018	Abnormal palmar dermatoglyphics	340533	NEXMIF	OMIM:300912
HP:0001018	Abnormal palmar dermatoglyphics	8294	H4C9	OMIM:619951
HP:0001018	Abnormal palmar dermatoglyphics	83932	SPRTN	OMIM:616200
HP:0001018	Abnormal palmar dermatoglyphics	8425	LTBP4	OMIM:613177
HP:0001018	Abnormal palmar dermatoglyphics	51126	NAA20	OMIM:619717
HP:0001018	Abnormal palmar dermatoglyphics	2972	BRF1	OMIM:616202
HP:0001018	Abnormal palmar dermatoglyphics	2972	BRF1	ORPHA:444072
HP:0001018	Abnormal palmar dermatoglyphics	6228	RPS23	OMIM:617412
HP:0001018	Abnormal palmar dermatoglyphics	5885	RAD21	OMIM:614701
HP:0001018	Abnormal palmar dermatoglyphics	55627	SMPD4	OMIM:618622
HP:0001018	Abnormal palmar dermatoglyphics	81857	MED25	OMIM:616449
HP:0001018	Abnormal palmar dermatoglyphics	81857	MED25	ORPHA:464738
HP:0001018	Abnormal palmar dermatoglyphics	123263	MTFMT	OMIM:614947
HP:0001018	Abnormal palmar dermatoglyphics	10274	STAG1	ORPHA:502434
HP:0001018	Abnormal palmar dermatoglyphics	56916	SMARCAD1	OMIM:129200
HP:0001018	Abnormal palmar dermatoglyphics	5830	PEX5	OMIM:214110
HP:0001018	Abnormal palmar dermatoglyphics	197131	UBR1	OMIM:243800
HP:0001018	Abnormal palmar dermatoglyphics	9578	CDC42BPB	OMIM:619841
HP:0001018	Abnormal palmar dermatoglyphics	3020	H3-3A	OMIM:619720
HP:0001018	Abnormal palmar dermatoglyphics	10300	KATNB1	OMIM:616212
HP:0001018	Abnormal palmar dermatoglyphics	89910	UBE3B	OMIM:244450
HP:0001018	Abnormal palmar dermatoglyphics	51506	UFC1	OMIM:618076
HP:0001018	Abnormal palmar dermatoglyphics	55790	CSGALNACT1	OMIM:618870
HP:0001018	Abnormal palmar dermatoglyphics	4010	LMX1B	ORPHA:495818
HP:0001018	Abnormal palmar dermatoglyphics	6812	STXBP1	ORPHA:495818
HP:0001018	Abnormal palmar dermatoglyphics	2137	EXTL3	OMIM:617425
HP:0001018	Abnormal palmar dermatoglyphics	22858	CILK1	OMIM:612651
HP:0001018	Abnormal palmar dermatoglyphics	9382	COG1	OMIM:611209
HP:0001018	Abnormal palmar dermatoglyphics	5189	PEX1	OMIM:214100
HP:0001018	Abnormal palmar dermatoglyphics	6197	RPS6KA3	OMIM:303600
HP:0001018	Abnormal palmar dermatoglyphics	84987	COX14	OMIM:619053
HP:0001018	Abnormal palmar dermatoglyphics	57492	ARID1B	OMIM:135900
HP:0001018	Abnormal palmar dermatoglyphics	54453	RIN2	OMIM:613075
HP:0001018	Abnormal palmar dermatoglyphics	3899	AFF3	OMIM:619297
HP:0001018	Abnormal palmar dermatoglyphics	25885	POLR1A	OMIM:616462
HP:0001018	Abnormal palmar dermatoglyphics	80204	FBXO11	OMIM:618089
HP:0001018	Abnormal palmar dermatoglyphics	50814	NSDHL	OMIM:308050
HP:0001018	Abnormal palmar dermatoglyphics	92579	G6PC3	OMIM:612541
HP:0001018	Abnormal palmar dermatoglyphics	93627	TBCK	OMIM:616900
HP:0001018	Abnormal palmar dermatoglyphics	114034	TOE1	OMIM:614969
HP:0001018	Abnormal palmar dermatoglyphics	157680	VPS13B	OMIM:216550
HP:0001018	Abnormal palmar dermatoglyphics	7020	TFAP2A	OMIM:113620
HP:0001018	Abnormal palmar dermatoglyphics	9896	FIG4	ORPHA:3472
HP:0001018	Abnormal palmar dermatoglyphics	9896	FIG4	OMIM:216340
HP:0001018	Abnormal palmar dermatoglyphics	55697	VAC14	ORPHA:3472
HP:0001018	Abnormal palmar dermatoglyphics	652	BMP4	OMIM:607932
HP:0001018	Abnormal palmar dermatoglyphics	5442	POLRMT	OMIM:619743
HP:0001018	Abnormal palmar dermatoglyphics	132158	GLYCTK	OMIM:220120
HP:0001018	Abnormal palmar dermatoglyphics	23036	ZNF292	OMIM:619188
HP:0001018	Abnormal palmar dermatoglyphics	55148	UBR7	OMIM:619189
HP:0001018	Abnormal palmar dermatoglyphics	4591	TRIM37	OMIM:253250
HP:0001018	Abnormal palmar dermatoglyphics	79813	EHMT1	OMIM:610253
HP:0001018	Abnormal palmar dermatoglyphics	55012	PPP2R3C	OMIM:618419
HP:0001018	Abnormal palmar dermatoglyphics	1954	MEGF8	OMIM:614976
HP:0001018	Abnormal palmar dermatoglyphics	2783	GNB2	OMIM:619503
HP:0001018	Abnormal palmar dermatoglyphics	7468	NSD2	OMIM:194190
HP:0001018	Abnormal palmar dermatoglyphics	10815	CPLX1	OMIM:194190
HP:0001018	Abnormal palmar dermatoglyphics	1487	CTBP1	OMIM:194190
HP:0001018	Abnormal palmar dermatoglyphics	53834	FGFRL1	OMIM:194190
HP:0001018	Abnormal palmar dermatoglyphics	3954	LETM1	OMIM:194190
HP:0001018	Abnormal palmar dermatoglyphics	26040	SETBP1	OMIM:269150
HP:0001018	Abnormal palmar dermatoglyphics	26834	RNU4-2	OMIM:620851
HP:0001018	Abnormal palmar dermatoglyphics	727857	BHLHA9	OMIM:609432
HP:0001018	Abnormal palmar dermatoglyphics	8241	RBM10	OMIM:311900
HP:0001018	Abnormal palmar dermatoglyphics	8241	RBM10	ORPHA:2886
HP:0001018	Abnormal palmar dermatoglyphics	1802	DPH2	OMIM:620062
HP:0001018	Abnormal palmar dermatoglyphics	11285	B4GALT7	OMIM:130070
HP:0001018	Abnormal palmar dermatoglyphics	1186	CLCN7	OMIM:618541
HP:0001018	Abnormal palmar dermatoglyphics	55768	NGLY1	OMIM:615273
HP:0001018	Abnormal palmar dermatoglyphics	54539	NDUFB11	OMIM:309801
HP:0001018	Abnormal palmar dermatoglyphics	1349	COX7B	OMIM:309801
HP:0001018	Abnormal palmar dermatoglyphics	3052	HCCS	OMIM:309801
HP:0001018	Abnormal palmar dermatoglyphics	63895	PIEZO2	OMIM:114300
HP:0001018	Abnormal palmar dermatoglyphics	5190	PEX6	OMIM:614863
HP:0001018	Abnormal palmar dermatoglyphics	9681	DEPDC5	OMIM:620504
HP:0001018	Abnormal palmar dermatoglyphics	5828	PEX2	OMIM:614866
HP:0001018	Abnormal palmar dermatoglyphics	150468	CKAP2L	OMIM:272440
HP:0001018	Abnormal palmar dermatoglyphics	6134	RPL10	ORPHA:459070
HP:0001018	Abnormal palmar dermatoglyphics	6134	RPL10	OMIM:300998
HP:0001018	Abnormal palmar dermatoglyphics	6134	RPL10	ORPHA:435938
HP:0001018	Abnormal palmar dermatoglyphics	55165	CEP55	OMIM:236500
HP:0001018	Abnormal palmar dermatoglyphics	8085	KMT2D	OMIM:620186
HP:0001018	Abnormal palmar dermatoglyphics	8085	KMT2D	OMIM:147920
HP:0001018	Abnormal palmar dermatoglyphics	23137	SMC5	OMIM:620185
HP:0001018	Abnormal palmar dermatoglyphics	27086	FOXP1	ORPHA:391372
HP:0001018	Abnormal palmar dermatoglyphics	388015	RTL1	ORPHA:96334
HP:0001018	Abnormal palmar dermatoglyphics	388015	RTL1	ORPHA:254528
HP:0001018	Abnormal palmar dermatoglyphics	8788	DLK1	ORPHA:96334
HP:0001018	Abnormal palmar dermatoglyphics	8788	DLK1	ORPHA:254528
HP:0001018	Abnormal palmar dermatoglyphics	55384	MEG3	ORPHA:96334
HP:0001018	Abnormal palmar dermatoglyphics	55384	MEG3	ORPHA:254528
HP:0001018	Abnormal palmar dermatoglyphics	6925	TCF4	OMIM:610954
HP:0001018	Abnormal palmar dermatoglyphics	6925	TCF4	ORPHA:2896
HP:0001018	Abnormal palmar dermatoglyphics	10430	TMEM147	OMIM:620075
HP:0001018	Abnormal palmar dermatoglyphics	4920	ROR2	OMIM:268310
HP:0001018	Abnormal palmar dermatoglyphics	23483	TGDS	OMIM:616145
HP:0001018	Abnormal palmar dermatoglyphics	6611	SMS	OMIM:309583
HP:0001018	Abnormal palmar dermatoglyphics	25836	NIPBL	OMIM:122470
HP:0001018	Abnormal palmar dermatoglyphics	23219	FBXO28	OMIM:619777
HP:0001018	Abnormal palmar dermatoglyphics	2146	EZH2	OMIM:277590
HP:0001018	Abnormal palmar dermatoglyphics	4087	SMAD2	OMIM:619657
HP:0001018	Abnormal palmar dermatoglyphics	2316	FLNA	ORPHA:1826
HP:0001018	Abnormal palmar dermatoglyphics	6885	MAP3K7	ORPHA:1826
HP:0001018	Abnormal palmar dermatoglyphics	51322	WAC	ORPHA:466950
HP:0001018	Abnormal palmar dermatoglyphics	6595	SMARCA2	OMIM:601358
HP:0001018	Abnormal palmar dermatoglyphics	29123	ANKRD11	OMIM:148050
HP:0001018	Abnormal palmar dermatoglyphics	29123	ANKRD11	ORPHA:2332
HP:0001018	Abnormal palmar dermatoglyphics	2703	GJA8	OMIM:612474
HP:0001018	Abnormal palmar dermatoglyphics	2702	GJA5	OMIM:612474
HP:0001018	Abnormal palmar dermatoglyphics	4208	MEF2C	OMIM:613443
HP:0001018	Abnormal palmar dermatoglyphics	55690	PACS1	ORPHA:329224
HP:0001018	Abnormal palmar dermatoglyphics	6878	TAF6	OMIM:617126
HP:0001018	Abnormal palmar dermatoglyphics	22907	DHX30	OMIM:617804
HP:0001018	Abnormal palmar dermatoglyphics	11338	U2AF2	OMIM:620535
HP:0001018	Abnormal palmar dermatoglyphics	2245	FGD1	ORPHA:915
HP:0001018	Abnormal palmar dermatoglyphics	2245	FGD1	OMIM:305400
HP:0001018	Abnormal palmar dermatoglyphics	10664	CTCF	OMIM:615502
HP:0001018	Abnormal palmar dermatoglyphics	10664	CTCF	ORPHA:363611
HP:0001018	Abnormal palmar dermatoglyphics	27145	FILIP1	OMIM:620775
HP:0001018	Abnormal palmar dermatoglyphics	81603	TRIM8	OMIM:619428
HP:0001018	Abnormal palmar dermatoglyphics	9230	RAB11B	OMIM:617807
HP:0001018	Abnormal palmar dermatoglyphics	55081	IFT57	OMIM:617927
HP:0001018	Abnormal palmar dermatoglyphics	3720	JARID2	OMIM:620098
HP:0001018	Abnormal palmar dermatoglyphics	3479	IGF1	ORPHA:73272
HP:0001018	Abnormal palmar dermatoglyphics	5193	PEX12	OMIM:266510
HP:0001018	Abnormal palmar dermatoglyphics	100151683	RNU4ATAC	OMIM:210710
HP:0001018	Abnormal palmar dermatoglyphics	100151683	RNU4ATAC	OMIM:616651
HP:0001018	Abnormal palmar dermatoglyphics	1798	DPAGT1	OMIM:608093
HP:0001018	Abnormal palmar dermatoglyphics	57122	NUP107	OMIM:618348
HP:0001018	Abnormal palmar dermatoglyphics	6418	SET	OMIM:618106
HP:0001018	Abnormal palmar dermatoglyphics	253738	EBF3	ORPHA:96148
HP:0001018	Abnormal palmar dermatoglyphics	5515	PPP2CA	OMIM:618354
HP:0001018	Abnormal palmar dermatoglyphics	23030	KDM4B	OMIM:619320
HP:0001018	Abnormal palmar dermatoglyphics	473	RERE	OMIM:616975
HP:0001018	Abnormal palmar dermatoglyphics	2902	GRIN1	OMIM:617820
HP:0001018	Abnormal palmar dermatoglyphics	55784	MCTP2	ORPHA:1596
HP:0001018	Abnormal palmar dermatoglyphics	23097	CDK19	OMIM:618916
HP:0001018	Abnormal palmar dermatoglyphics	9126	SMC3	OMIM:610759
HP:0001018	Abnormal palmar dermatoglyphics	4131	MAP1B	OMIM:618918
HP:0001018	Abnormal palmar dermatoglyphics	5530	PPP3CA	OMIM:617711
HP:0001018	Abnormal palmar dermatoglyphics	80746	TSEN2	OMIM:612389
HP:0001018	Abnormal palmar dermatoglyphics	64131	XYLT1	OMIM:615777
HP:0001018	Abnormal palmar dermatoglyphics	9361	LONP1	ORPHA:79243
HP:0001018	Abnormal palmar dermatoglyphics	5160	PDHA1	ORPHA:79243
HP:0001018	Abnormal palmar dermatoglyphics	55764	IFT122	OMIM:218330
HP:0001018	Abnormal palmar dermatoglyphics	8604	SLC25A12	OMIM:612949
HP:0001018	Abnormal palmar dermatoglyphics	9241	NOG	OMIM:186500
HP:0001018	Abnormal palmar dermatoglyphics	22827	PUF60	ORPHA:508488
HP:0001018	Abnormal palmar dermatoglyphics	10943	MSL3	OMIM:301032
HP:0001018	Abnormal palmar dermatoglyphics	3977	LIFR	OMIM:601559
HP:0001018	Abnormal palmar dermatoglyphics	545	ATR	OMIM:210600
HP:0001018	Abnormal palmar dermatoglyphics	57187	THOC2	ORPHA:457240
HP:0001018	Abnormal palmar dermatoglyphics	57572	DOCK6	OMIM:614219
HP:0001018	Abnormal palmar dermatoglyphics	94005	PIGS	OMIM:618143
HP:0001018	Abnormal palmar dermatoglyphics	145173	B3GLCT	OMIM:261540
HP:0001018	Abnormal palmar dermatoglyphics	6711	SPTBN1	OMIM:619475
HP:0001018	Abnormal palmar dermatoglyphics	6938	TCF12	OMIM:615314
HP:0001018	Abnormal palmar dermatoglyphics	92002	CCNQ	OMIM:300707
HP:0001018	Abnormal palmar dermatoglyphics	91461	PKDCC	OMIM:618821
HP:0001018	Abnormal palmar dermatoglyphics	4329	ALDH6A1	OMIM:614105
HP:0001018	Abnormal palmar dermatoglyphics	1457	CSNK2A1	OMIM:617062
HP:0001018	Abnormal palmar dermatoglyphics	7204	TRIO	OMIM:617061
HP:0001018	Abnormal palmar dermatoglyphics	55617	TASP1	OMIM:618950
HP:0001018	Abnormal palmar dermatoglyphics	51305	KCNK9	OMIM:612292
HP:0001018	Abnormal palmar dermatoglyphics	83737	ITCH	OMIM:613385
HP:0001018	Abnormal palmar dermatoglyphics	112752	IFT43	OMIM:617866
HP:0001018	Abnormal palmar dermatoglyphics	9702	CEP57	OMIM:614114
HP:0001018	Abnormal palmar dermatoglyphics	9373	PLAA	ORPHA:521426
HP:0001018	Abnormal palmar dermatoglyphics	9373	PLAA	OMIM:617527
HP:0001018	Abnormal palmar dermatoglyphics	64093	SMOC1	OMIM:206920
HP:0001018	Abnormal palmar dermatoglyphics	7169	TPM2	OMIM:108120
HP:0001018	Abnormal palmar dermatoglyphics	403	ARL3	OMIM:618161
HP:0001018	Abnormal palmar dermatoglyphics	8200	GDF5	OMIM:201250
HP:0001018	Abnormal palmar dermatoglyphics	1748	DLX4	OMIM:616788
HP:0001018	Abnormal palmar dermatoglyphics	1663	DDX11	OMIM:613398
HP:0001018	Abnormal palmar dermatoglyphics	2733	GLE1	OMIM:611890
HP:0001018	Abnormal palmar dermatoglyphics	738	VPS51	OMIM:618606
HP:0001018	Abnormal palmar dermatoglyphics	51594	NBAS	OMIM:614800
HP:0001018	Abnormal palmar dermatoglyphics	23299	BICD2	OMIM:618291
HP:0001018	Abnormal palmar dermatoglyphics	6910	TBX5	OMIM:142900
HP:0001018	Abnormal palmar dermatoglyphics	7543	ZFX	OMIM:301118
HP:0001018	Abnormal palmar dermatoglyphics	523	ATP6V1A	OMIM:617403
HP:0001018	Abnormal palmar dermatoglyphics	7403	KDM6A	OMIM:147920
HP:0001018	Abnormal palmar dermatoglyphics	7298	TYMS	OMIM:620040
HP:0001018	Abnormal palmar dermatoglyphics	55636	CHD7	OMIM:214800
HP:0001018	Abnormal palmar dermatoglyphics	9968	MED12	ORPHA:2728
HP:0001018	Abnormal palmar dermatoglyphics	54880	BCOR	OMIM:309800
HP:0001018	Abnormal palmar dermatoglyphics	8260	NAA10	OMIM:309800
HP:0001018	Abnormal palmar dermatoglyphics	64840	PORCN	ORPHA:2092
HP:0001018	Abnormal palmar dermatoglyphics	2033	EP300	OMIM:180849
HP:0001018	Abnormal palmar dermatoglyphics	1387	CREBBP	OMIM:180849
HP:0001018	Abnormal palmar dermatoglyphics	23545	ATP6V0A2	ORPHA:2834
HP:0001018	Abnormal palmar dermatoglyphics	113189	CHST14	ORPHA:2953
HP:0001018	Abnormal palmar dermatoglyphics	29940	DSE	ORPHA:2953
HP:0001018	Abnormal palmar dermatoglyphics	26053	AUTS2	OMIM:615834
HP:0001018	Abnormal palmar dermatoglyphics	26053	AUTS2	ORPHA:352490
HP:0001018	Abnormal palmar dermatoglyphics	8985	PLOD3	OMIM:612394
HP:0001018	Abnormal palmar dermatoglyphics	55252	ASXL2	OMIM:617190
HP:0001018	Abnormal palmar dermatoglyphics	8036	SHOC2	OMIM:607721
HP:0001018	Abnormal palmar dermatoglyphics	65082	VPS33A	ORPHA:505248
HP:0001018	Abnormal palmar dermatoglyphics	3190	HNRNPK	OMIM:616580
HP:0001018	Abnormal palmar dermatoglyphics	4052	LTBP1	OMIM:619451
HP:0001018	Abnormal palmar dermatoglyphics	8558	CDK10	OMIM:617694
HP:0001018	Abnormal palmar dermatoglyphics	57479	PRR12	OMIM:619539
HP:0001018	Abnormal palmar dermatoglyphics	29957	SLC25A24	OMIM:612289
HP:0001018	Abnormal palmar dermatoglyphics	673	BRAF	OMIM:115150
HP:0001018	Abnormal palmar dermatoglyphics	673	BRAF	ORPHA:1340
HP:0001018	Abnormal palmar dermatoglyphics	673	BRAF	OMIM:613706
HP:0001018	Abnormal palmar dermatoglyphics	5604	MAP2K1	ORPHA:1340
HP:0001018	Abnormal palmar dermatoglyphics	5605	MAP2K2	ORPHA:1340
HP:0001018	Abnormal palmar dermatoglyphics	3845	KRAS	ORPHA:1340
HP:0001018	Abnormal palmar dermatoglyphics	3845	KRAS	OMIM:609942
HP:0001018	Abnormal palmar dermatoglyphics	83550	GPR101	ORPHA:963
HP:0001018	Abnormal palmar dermatoglyphics	9049	AIP	ORPHA:963
HP:0001018	Abnormal palmar dermatoglyphics	23384	SPECC1L	OMIM:600251
HP:0001018	Abnormal palmar dermatoglyphics	55593	OTUD5	OMIM:301056
HP:0001018	Abnormal palmar dermatoglyphics	283209	PGM2L1	OMIM:620191
HP:0001018	Abnormal palmar dermatoglyphics	79718	TBL1XR1	OMIM:602342
HP:0001018	Abnormal palmar dermatoglyphics	79718	TBL1XR1	ORPHA:487825
HP:0001018	Abnormal palmar dermatoglyphics	171023	ASXL1	OMIM:605039
HP:0001018	Abnormal palmar dermatoglyphics	10651	MTX2	OMIM:619127
HP:0001018	Abnormal palmar dermatoglyphics	80816	ASXL3	OMIM:615485
HP:0001018	Abnormal palmar dermatoglyphics	5277	PIGA	OMIM:300868
HP:0001018	Abnormal palmar dermatoglyphics	1806	DPYD	ORPHA:1675
HP:0001018	Abnormal palmar dermatoglyphics	2475	MTOR	OMIM:616638
HP:0001018	Abnormal palmar dermatoglyphics	200734	SPRED2	OMIM:619745
HP:0001018	Abnormal palmar dermatoglyphics	526	ATP6V1B2	ORPHA:3473
HP:0001018	Abnormal palmar dermatoglyphics	3756	KCNH1	ORPHA:3473
HP:0001018	Abnormal palmar dermatoglyphics	3782	KCNN3	ORPHA:3473
HP:0001018	Abnormal palmar dermatoglyphics	3265	HRAS	OMIM:218040
HP:0001018	Abnormal palmar dermatoglyphics	7291	TWIST1	ORPHA:794
HP:0001018	Abnormal palmar dermatoglyphics	2263	FGFR2	ORPHA:794
HP:0001018	Abnormal palmar dermatoglyphics	2261	FGFR3	ORPHA:794
HP:0001018	Abnormal palmar dermatoglyphics	23476	BRD4	ORPHA:199
HP:0001018	Abnormal palmar dermatoglyphics	8243	SMC1A	ORPHA:199
HP:0001018	Abnormal palmar dermatoglyphics	55869	HDAC8	ORPHA:199
HP:0001018	Abnormal palmar dermatoglyphics	5792	PTPRF	OMIM:616001
HP:0001018	Abnormal palmar dermatoglyphics	10908	PNPLA6	ORPHA:2377
HP:0001018	Abnormal palmar dermatoglyphics	9894	TELO2	ORPHA:488642
HP:0001018	Abnormal palmar dermatoglyphics	9759	HDAC4	ORPHA:1001
HP:0001018	Abnormal palmar dermatoglyphics	157570	ESCO2	ORPHA:3103
HP:0001018	Abnormal palmar dermatoglyphics	5184	PEPD	ORPHA:742
HP:0001018	Abnormal palmar dermatoglyphics	2131	EXT1	ORPHA:502
HP:0001018	Abnormal palmar dermatoglyphics	7227	TRPS1	ORPHA:502
HP:0001018	Abnormal palmar dermatoglyphics	283989	TSEN54	ORPHA:2524
HP:0001018	Abnormal palmar dermatoglyphics	116461	TSEN15	ORPHA:2524
HP:0001018	Abnormal palmar dermatoglyphics	79042	TSEN34	ORPHA:2524
HP:0001018	Abnormal palmar dermatoglyphics	51091	SEPSECS	ORPHA:2524
HP:0001018	Abnormal palmar dermatoglyphics	129563	DIS3L2	ORPHA:2849
HP:0001018	Abnormal palmar dermatoglyphics	5818	NECTIN1	ORPHA:3253
HP:0001018	Abnormal palmar dermatoglyphics	55670	PEX26	ORPHA:44
HP:0001018	Abnormal palmar dermatoglyphics	5824	PEX19	ORPHA:44
HP:0001018	Abnormal palmar dermatoglyphics	8504	PEX3	ORPHA:44
HP:0001018	Abnormal palmar dermatoglyphics	9409	PEX16	ORPHA:44
HP:0001018	Abnormal palmar dermatoglyphics	8799	PEX11B	ORPHA:44
HP:0001018	Abnormal palmar dermatoglyphics	5194	PEX13	ORPHA:44
HP:0001018	Abnormal palmar dermatoglyphics	5195	PEX14	ORPHA:44
HP:0001018	Abnormal palmar dermatoglyphics	5192	PEX10	ORPHA:44
HP:0001018	Abnormal palmar dermatoglyphics	9469	CHST3	OMIM:143095
HP:0001018	Abnormal palmar dermatoglyphics	7140	TNNT3	ORPHA:1147
HP:0001018	Abnormal palmar dermatoglyphics	4621	MYH3	ORPHA:1147
HP:0001018	Abnormal palmar dermatoglyphics	259232	NALCN	ORPHA:1147
HP:0001018	Abnormal palmar dermatoglyphics	7136	TNNI2	ORPHA:1147
HP:0001018	Abnormal palmar dermatoglyphics	23511	NUP188	OMIM:618804
HP:0001018	Abnormal palmar dermatoglyphics	658	BMPR1B	ORPHA:2639
HP:0001018	Abnormal palmar dermatoglyphics	64359	NXN	ORPHA:1507
HP:0001018	Abnormal palmar dermatoglyphics	10225	CD96	ORPHA:1308
HP:0001018	Abnormal palmar dermatoglyphics	23522	KAT6B	ORPHA:3047
HP:0001018	Abnormal palmar dermatoglyphics	147372	CCBE1	OMIM:235510
HP:0001018	Abnormal palmar dermatoglyphics	9496	TBX4	ORPHA:261279
HP:0001018	Abnormal palmar dermatoglyphics	1801	DPH1	ORPHA:459061
HP:0001018	Abnormal palmar dermatoglyphics	6874	TAF4	OMIM:620450
HP:0001018	Abnormal palmar dermatoglyphics	2254	FGF9	ORPHA:3237
HP:0001018	Abnormal palmar dermatoglyphics	55605	KIF21A	ORPHA:994
HP:0001018	Abnormal palmar dermatoglyphics	4927	NUP88	ORPHA:994
HP:0001018	Abnormal palmar dermatoglyphics	7846	TUBA1A	ORPHA:994
HP:0001018	Abnormal palmar dermatoglyphics	4654	MYOD1	ORPHA:994
HP:0001018	Abnormal palmar dermatoglyphics	54551	MAGEL2	ORPHA:994
HP:0001018	Abnormal palmar dermatoglyphics	4593	MUSK	ORPHA:994
HP:0001018	Abnormal palmar dermatoglyphics	5913	RAPSN	ORPHA:994
HP:0001018	Abnormal palmar dermatoglyphics	6572	SLC18A3	ORPHA:994
HP:0001018	Abnormal palmar dermatoglyphics	285489	DOK7	ORPHA:994
HP:0001018	Abnormal palmar dermatoglyphics	91252	SLC39A13	ORPHA:157965
HP:0001018	Abnormal palmar dermatoglyphics	54101	RIPK4	OMIM:263650
HP:0001018	Abnormal palmar dermatoglyphics	92949	ADAMTSL1	ORPHA:521445
HP:0001018	Abnormal palmar dermatoglyphics	22884	WDR37	OMIM:618652
HP:0001018	Abnormal palmar dermatoglyphics	7750	ZMYM2	OMIM:619522
HP:0001018	Abnormal palmar dermatoglyphics	7528	YY1	ORPHA:506358
HP:0001019	Erythroderma	126410	CYP4F22	OMIM:604777
HP:0001019	Erythroderma	126410	CYP4F22	ORPHA:313
HP:0001019	Erythroderma	7051	TGM1	OMIM:242300
HP:0001019	Erythroderma	7051	TGM1	ORPHA:100976
HP:0001019	Erythroderma	7051	TGM1	ORPHA:79394
HP:0001019	Erythroderma	7051	TGM1	ORPHA:313
HP:0001019	Erythroderma	3858	KRT10	ORPHA:312
HP:0001019	Erythroderma	3858	KRT10	OMIM:620150
HP:0001019	Erythroderma	3858	KRT10	OMIM:620707
HP:0001019	Erythroderma	3858	KRT10	OMIM:609165
HP:0001019	Erythroderma	3848	KRT1	ORPHA:312
HP:0001019	Erythroderma	3848	KRT1	OMIM:113800
HP:0001019	Erythroderma	3815	KIT	ORPHA:280785
HP:0001019	Erythroderma	10043	TOM1	OMIM:619510
HP:0001019	Erythroderma	348938	NIPAL4	OMIM:612281
HP:0001019	Erythroderma	348938	NIPAL4	ORPHA:79394
HP:0001019	Erythroderma	348938	NIPAL4	ORPHA:313
HP:0001019	Erythroderma	11012	KLK11	OMIM:620507
HP:0001019	Erythroderma	9526	MPDU1	OMIM:609180
HP:0001019	Erythroderma	6023	RMRP	ORPHA:39041
HP:0001019	Erythroderma	55636	CHD7	ORPHA:39041
HP:0001019	Erythroderma	3981	LIG4	ORPHA:39041
HP:0001019	Erythroderma	5896	RAG1	ORPHA:39041
HP:0001019	Erythroderma	5896	RAG1	OMIM:603554
HP:0001019	Erythroderma	5897	RAG2	ORPHA:39041
HP:0001019	Erythroderma	5897	RAG2	OMIM:603554
HP:0001019	Erythroderma	64421	DCLRE1C	ORPHA:39041
HP:0001019	Erythroderma	64421	DCLRE1C	OMIM:603554
HP:0001019	Erythroderma	100	ADA	ORPHA:39041
HP:0001019	Erythroderma	3575	IL7R	ORPHA:39041
HP:0001019	Erythroderma	3575	IL7R	ORPHA:169154
HP:0001019	Erythroderma	3561	IL2RG	ORPHA:39041
HP:0001019	Erythroderma	50943	FOXP3	OMIM:304790
HP:0001019	Erythroderma	1041	CDSN	OMIM:270300
HP:0001019	Erythroderma	79092	CARD14	ORPHA:2897
HP:0001019	Erythroderma	5551	PRF1	ORPHA:540
HP:0001019	Erythroderma	8676	STX11	ORPHA:540
HP:0001019	Erythroderma	201294	UNC13D	ORPHA:540
HP:0001019	Erythroderma	6813	STXBP2	ORPHA:540
HP:0001019	Erythroderma	10999	SLC27A4	OMIM:608649
HP:0001019	Erythroderma	2706	GJB2	OMIM:602540
HP:0001019	Erythroderma	51360	MBTPS2	OMIM:308205
HP:0001019	Erythroderma	162	AP1B1	OMIM:242150
HP:0001019	Erythroderma	130340	AP1S3	ORPHA:247353
HP:0001019	Erythroderma	26525	IL36RN	ORPHA:247353
HP:0001019	Erythroderma	11005	SPINK5	OMIM:256500
HP:0001019	Erythroderma	11005	SPINK5	ORPHA:634
HP:0001019	Erythroderma	2137	EXTL3	OMIM:617425
HP:0001019	Erythroderma	6785	ELOVL4	OMIM:133190
HP:0001019	Erythroderma	26154	ABCA12	ORPHA:457
HP:0001019	Erythroderma	26154	ABCA12	ORPHA:79394
HP:0001019	Erythroderma	26154	ABCA12	ORPHA:313
HP:0001019	Erythroderma	57609	DIP2B	OMIM:136630
HP:0001019	Erythroderma	1493	CTLA4	ORPHA:3162
HP:0001019	Erythroderma	1493	CTLA4	ORPHA:2584
HP:0001019	Erythroderma	940	CD28	ORPHA:3162
HP:0001019	Erythroderma	940	CD28	ORPHA:2584
HP:0001019	Erythroderma	7133	TNFRSF1B	ORPHA:3162
HP:0001019	Erythroderma	7133	TNFRSF1B	ORPHA:2584
HP:0001019	Erythroderma	915	CD3D	ORPHA:169160
HP:0001019	Erythroderma	916	CD3E	ORPHA:169160
HP:0001019	Erythroderma	919	CD247	ORPHA:169160
HP:0001019	Erythroderma	919	CD247	OMIM:610163
HP:0001019	Erythroderma	4047	LSS	OMIM:618840
HP:0001019	Erythroderma	2707	GJB3	OMIM:133200
HP:0001019	Erythroderma	10616	RBCK1	OMIM:615895
HP:0001019	Erythroderma	6868	ADAM17	OMIM:614328
HP:0001019	Erythroderma	10682	EBP	OMIM:302960
HP:0001019	Erythroderma	10682	EBP	ORPHA:35173
HP:0001019	Erythroderma	2068	ERCC2	OMIM:601675
HP:0001019	Erythroderma	204219	CERS3	OMIM:615023
HP:0001019	Erythroderma	204219	CERS3	ORPHA:79394
HP:0001019	Erythroderma	5699	PSMB10	OMIM:620807
HP:0001019	Erythroderma	285848	PNPLA1	OMIM:615024
HP:0001019	Erythroderma	285848	PNPLA1	ORPHA:79394
HP:0001019	Erythroderma	242	ALOX12B	ORPHA:79394
HP:0001019	Erythroderma	242	ALOX12B	ORPHA:313
HP:0001019	Erythroderma	6820	SULT2B1	ORPHA:79394
HP:0001019	Erythroderma	6820	SULT2B1	ORPHA:313
HP:0001019	Erythroderma	59344	ALOXE3	ORPHA:79394
HP:0001019	Erythroderma	59344	ALOXE3	ORPHA:313
HP:0001019	Erythroderma	121214	SDR9C7	ORPHA:79394
HP:0001019	Erythroderma	121214	SDR9C7	ORPHA:313
HP:0001019	Erythroderma	1828	DSG1	OMIM:615508
HP:0001019	Erythroderma	3559	IL2RA	OMIM:606367
HP:0001019	Erythroderma	151516	ASPRV1	ORPHA:313
HP:0001019	Erythroderma	643418	LIPN	ORPHA:313
HP:0001019	Erythroderma	404672	GTF2H5	ORPHA:33364
HP:0001019	Erythroderma	833	CARS1	ORPHA:33364
HP:0001019	Erythroderma	7737	RNF113A	ORPHA:33364
HP:0001019	Erythroderma	136647	MPLKIP	ORPHA:33364
HP:0001019	Erythroderma	6897	TARS1	ORPHA:33364
HP:0001019	Erythroderma	16	AARS1	ORPHA:33364
HP:0001019	Erythroderma	2071	ERCC3	ORPHA:33364
HP:0001019	Erythroderma	2961	GTF2E2	ORPHA:33364
HP:0009283	Abnormality of the middle phalanx of the 4th finger	9241	NOG	OMIM:186500
HP:0009283	Abnormality of the middle phalanx of the 4th finger	8200	GDF5	OMIM:615072
HP:0009283	Abnormality of the middle phalanx of the 4th finger	2122	MECOM	OMIM:616738
HP:0004213	Abnormal 5th finger phalanx morphology	7021	TFAP2B	ORPHA:46627
HP:0004213	Abnormal 5th finger phalanx morphology	4613	MYCN	ORPHA:391641
HP:0004213	Abnormal 5th finger phalanx morphology	9698	PUM1	OMIM:620719
HP:0004213	Abnormal 5th finger phalanx morphology	10743	RAI1	OMIM:182290
HP:0004213	Abnormal 5th finger phalanx morphology	3481	IGF2	OMIM:180860
HP:0004213	Abnormal 5th finger phalanx morphology	51199	NIN	ORPHA:319675
HP:0004213	Abnormal 5th finger phalanx morphology	51199	NIN	OMIM:614851
HP:0004213	Abnormal 5th finger phalanx morphology	7474	WNT5A	OMIM:180700
HP:0004213	Abnormal 5th finger phalanx morphology	1855	DVL1	OMIM:180700
HP:0004213	Abnormal 5th finger phalanx morphology	22827	PUF60	ORPHA:508488
HP:0004213	Abnormal 5th finger phalanx morphology	6910	TBX5	OMIM:142900
HP:0004213	Abnormal 5th finger phalanx morphology	3239	HOXD13	OMIM:186000
HP:0004213	Abnormal 5th finger phalanx morphology	3239	HOXD13	ORPHA:93409
HP:0004213	Abnormal 5th finger phalanx morphology	10847	SRCAP	OMIM:136140
HP:0004213	Abnormal 5th finger phalanx morphology	2077	ERF	OMIM:617180
HP:0004213	Abnormal 5th finger phalanx morphology	860	RUNX2	OMIM:119600
HP:0004213	Abnormal 5th finger phalanx morphology	860	RUNX2	OMIM:156510
HP:0004213	Abnormal 5th finger phalanx morphology	2783	GNB2	OMIM:619503
HP:0004213	Abnormal 5th finger phalanx morphology	5932	RBBP8	OMIM:251255
HP:0004213	Abnormal 5th finger phalanx morphology	1280	COL2A1	OMIM:271700
HP:0004213	Abnormal 5th finger phalanx morphology	10236	HNRNPR	OMIM:620073
HP:0004213	Abnormal 5th finger phalanx morphology	57492	ARID1B	OMIM:135900
HP:0004213	Abnormal 5th finger phalanx morphology	90459	ERI1	OMIM:620662
HP:0004213	Abnormal 5th finger phalanx morphology	6598	SMARCB1	OMIM:614608
HP:0004213	Abnormal 5th finger phalanx morphology	4882	NPR2	OMIM:615923
HP:0004213	Abnormal 5th finger phalanx morphology	92482	BBIP1	ORPHA:110
HP:0004213	Abnormal 5th finger phalanx morphology	80184	CEP290	ORPHA:110
HP:0004213	Abnormal 5th finger phalanx morphology	11020	IFT27	ORPHA:110
HP:0004213	Abnormal 5th finger phalanx morphology	582	BBS1	ORPHA:110
HP:0004213	Abnormal 5th finger phalanx morphology	49855	SCAPER	ORPHA:110
HP:0004213	Abnormal 5th finger phalanx morphology	4867	NPHP1	ORPHA:110
HP:0004213	Abnormal 5th finger phalanx morphology	51057	WDPCP	ORPHA:110
HP:0004213	Abnormal 5th finger phalanx morphology	132320	SCLT1	ORPHA:110
HP:0004213	Abnormal 5th finger phalanx morphology	27241	BBS9	ORPHA:110
HP:0004213	Abnormal 5th finger phalanx morphology	84984	CEP19	ORPHA:110
HP:0004213	Abnormal 5th finger phalanx morphology	22954	TRIM32	ORPHA:110
HP:0004213	Abnormal 5th finger phalanx morphology	54903	MKS1	ORPHA:110
HP:0004213	Abnormal 5th finger phalanx morphology	79738	BBS10	ORPHA:110
HP:0004213	Abnormal 5th finger phalanx morphology	123016	TTC8	ORPHA:110
HP:0004213	Abnormal 5th finger phalanx morphology	26160	IFT172	ORPHA:110
HP:0004213	Abnormal 5th finger phalanx morphology	583	BBS2	ORPHA:110
HP:0004213	Abnormal 5th finger phalanx morphology	585	BBS4	ORPHA:110
HP:0004213	Abnormal 5th finger phalanx morphology	8195	MKKS	ORPHA:110
HP:0004213	Abnormal 5th finger phalanx morphology	54585	LZTFL1	ORPHA:110
HP:0004213	Abnormal 5th finger phalanx morphology	55212	BBS7	ORPHA:110
HP:0004213	Abnormal 5th finger phalanx morphology	166379	BBS12	ORPHA:110
HP:0004213	Abnormal 5th finger phalanx morphology	10806	SDCCAG8	ORPHA:110
HP:0004213	Abnormal 5th finger phalanx morphology	157657	CFAP418	ORPHA:110
HP:0004213	Abnormal 5th finger phalanx morphology	84100	ARL6	ORPHA:110
HP:0004213	Abnormal 5th finger phalanx morphology	129880	BBS5	ORPHA:110
HP:0004213	Abnormal 5th finger phalanx morphology	80173	IFT74	ORPHA:110
HP:0004213	Abnormal 5th finger phalanx morphology	2697	GJA1	OMIM:257850
HP:0004213	Abnormal 5th finger phalanx morphology	658	BMPR1B	OMIM:112600
HP:0004213	Abnormal 5th finger phalanx morphology	650	BMP2	OMIM:112600
HP:0004213	Abnormal 5th finger phalanx morphology	8200	GDF5	OMIM:112600
HP:0004213	Abnormal 5th finger phalanx morphology	727857	BHLHA9	OMIM:609432
HP:0004213	Abnormal 5th finger phalanx morphology	526	ATP6V1B2	OMIM:124480
HP:0004213	Abnormal 5th finger phalanx morphology	9742	IFT140	OMIM:266920
HP:0004213	Abnormal 5th finger phalanx morphology	9241	NOG	OMIM:186500
HP:0004213	Abnormal 5th finger phalanx morphology	9241	NOG	OMIM:184460
HP:0004213	Abnormal 5th finger phalanx morphology	4920	ROR2	OMIM:268310
HP:0004213	Abnormal 5th finger phalanx morphology	56992	KIF15	ORPHA:261323
HP:0004213	Abnormal 5th finger phalanx morphology	7700	ZNF141	OMIM:615226
HP:0004209	Clinodactyly of the 5th finger	11253	MAN1B1	ORPHA:397941
HP:0004209	Clinodactyly of the 5th finger	11253	MAN1B1	OMIM:614202
HP:0004209	Clinodactyly of the 5th finger	340533	NEXMIF	OMIM:300912
HP:0004209	Clinodactyly of the 5th finger	1139	CHRNA7	ORPHA:199318
HP:0004209	Clinodactyly of the 5th finger	1139	CHRNA7	OMIM:612001
HP:0004209	Clinodactyly of the 5th finger	2132	EXT2	OMIM:616682
HP:0004209	Clinodactyly of the 5th finger	23135	KDM6B	OMIM:618505
HP:0004209	Clinodactyly of the 5th finger	6659	SOX4	OMIM:618506
HP:0004209	Clinodactyly of the 5th finger	1947	EFNB1	ORPHA:1520
HP:0004209	Clinodactyly of the 5th finger	1947	EFNB1	OMIM:304110
HP:0004209	Clinodactyly of the 5th finger	4010	LMX1B	ORPHA:2614
HP:0004209	Clinodactyly of the 5th finger	4010	LMX1B	OMIM:161200
HP:0004209	Clinodactyly of the 5th finger	10054	UBA2	OMIM:619959
HP:0004209	Clinodactyly of the 5th finger	51126	NAA20	OMIM:619717
HP:0004209	Clinodactyly of the 5th finger	2972	BRF1	OMIM:616202
HP:0004209	Clinodactyly of the 5th finger	2263	FGFR2	OMIM:149730
HP:0004209	Clinodactyly of the 5th finger	2263	FGFR2	OMIM:101400
HP:0004209	Clinodactyly of the 5th finger	2263	FGFR2	ORPHA:794
HP:0004209	Clinodactyly of the 5th finger	9820	CUL7	ORPHA:2616
HP:0004209	Clinodactyly of the 5th finger	9820	CUL7	OMIM:273750
HP:0004209	Clinodactyly of the 5th finger	23363	OBSL1	ORPHA:2616
HP:0004209	Clinodactyly of the 5th finger	83987	CCDC8	ORPHA:2616
HP:0004209	Clinodactyly of the 5th finger	83987	CCDC8	OMIM:614205
HP:0004209	Clinodactyly of the 5th finger	7021	TFAP2B	OMIM:169100
HP:0004209	Clinodactyly of the 5th finger	7021	TFAP2B	ORPHA:46627
HP:0004209	Clinodactyly of the 5th finger	7021	TFAP2B	OMIM:617035
HP:0004209	Clinodactyly of the 5th finger	5927	KDM5A	OMIM:620820
HP:0004209	Clinodactyly of the 5th finger	3481	IGF2	ORPHA:231140
HP:0004209	Clinodactyly of the 5th finger	3481	IGF2	ORPHA:231144
HP:0004209	Clinodactyly of the 5th finger	3481	IGF2	OMIM:616489
HP:0004209	Clinodactyly of the 5th finger	3481	IGF2	OMIM:180860
HP:0004209	Clinodactyly of the 5th finger	3481	IGF2	ORPHA:397590
HP:0004209	Clinodactyly of the 5th finger	283120	H19	ORPHA:231140
HP:0004209	Clinodactyly of the 5th finger	283120	H19	ORPHA:231144
HP:0004209	Clinodactyly of the 5th finger	197131	UBR1	OMIM:243800
HP:0004209	Clinodactyly of the 5th finger	5932	RBBP8	OMIM:606744
HP:0004209	Clinodactyly of the 5th finger	5932	RBBP8	ORPHA:808
HP:0004209	Clinodactyly of the 5th finger	3021	H3-3B	OMIM:619721
HP:0004209	Clinodactyly of the 5th finger	4286	MITF	OMIM:617306
HP:0004209	Clinodactyly of the 5th finger	23384	SPECC1L	ORPHA:1519
HP:0004209	Clinodactyly of the 5th finger	57539	WDR35	ORPHA:1515
HP:0004209	Clinodactyly of the 5th finger	112752	IFT43	ORPHA:1515
HP:0004209	Clinodactyly of the 5th finger	51098	IFT52	ORPHA:1515
HP:0004209	Clinodactyly of the 5th finger	55764	IFT122	ORPHA:1515
HP:0004209	Clinodactyly of the 5th finger	57728	WDR19	ORPHA:1515
HP:0004209	Clinodactyly of the 5th finger	55636	CHD7	ORPHA:138
HP:0004209	Clinodactyly of the 5th finger	9723	SEMA3E	ORPHA:138
HP:0004209	Clinodactyly of the 5th finger	90	ACVR1	OMIM:135100
HP:0004209	Clinodactyly of the 5th finger	3190	HNRNPK	OMIM:616580
HP:0004209	Clinodactyly of the 5th finger	25885	POLR1A	OMIM:616462
HP:0004209	Clinodactyly of the 5th finger	54880	BCOR	ORPHA:2712
HP:0004209	Clinodactyly of the 5th finger	54880	BCOR	ORPHA:568
HP:0004209	Clinodactyly of the 5th finger	10606	PAICS	OMIM:619859
HP:0004209	Clinodactyly of the 5th finger	1009	CDH11	OMIM:619736
HP:0004209	Clinodactyly of the 5th finger	64359	NXN	ORPHA:1507
HP:0004209	Clinodactyly of the 5th finger	4920	ROR2	ORPHA:1507
HP:0004209	Clinodactyly of the 5th finger	2697	GJA1	ORPHA:2710
HP:0004209	Clinodactyly of the 5th finger	7020	TFAP2A	OMIM:113620
HP:0004209	Clinodactyly of the 5th finger	727857	BHLHA9	ORPHA:157801
HP:0004209	Clinodactyly of the 5th finger	727857	BHLHA9	OMIM:609432
HP:0004209	Clinodactyly of the 5th finger	652	BMP4	OMIM:607932
HP:0004209	Clinodactyly of the 5th finger	4297	KMT2A	ORPHA:319182
HP:0004209	Clinodactyly of the 5th finger	4297	KMT2A	OMIM:605130
HP:0004209	Clinodactyly of the 5th finger	1301	COL11A1	OMIM:228520
HP:0004209	Clinodactyly of the 5th finger	1301	COL11A1	OMIM:154780
HP:0004209	Clinodactyly of the 5th finger	23327	NEDD4L	OMIM:617201
HP:0004209	Clinodactyly of the 5th finger	7291	TWIST1	OMIM:101400
HP:0004209	Clinodactyly of the 5th finger	7291	TWIST1	ORPHA:794
HP:0004209	Clinodactyly of the 5th finger	2783	GNB2	OMIM:619503
HP:0004209	Clinodactyly of the 5th finger	3981	LIG4	ORPHA:235
HP:0004209	Clinodactyly of the 5th finger	3981	LIG4	ORPHA:99812
HP:0004209	Clinodactyly of the 5th finger	3981	LIG4	OMIM:606593
HP:0004209	Clinodactyly of the 5th finger	54888	NSUN2	ORPHA:235
HP:0004209	Clinodactyly of the 5th finger	1182	CLCN3	OMIM:619512
HP:0004209	Clinodactyly of the 5th finger	85301	COL27A1	OMIM:615155
HP:0004209	Clinodactyly of the 5th finger	57680	CHD8	OMIM:615032
HP:0004209	Clinodactyly of the 5th finger	5048	PAFAH1B1	ORPHA:217385
HP:0004209	Clinodactyly of the 5th finger	5048	PAFAH1B1	ORPHA:531
HP:0004209	Clinodactyly of the 5th finger	7531	YWHAE	ORPHA:217385
HP:0004209	Clinodactyly of the 5th finger	7531	YWHAE	ORPHA:531
HP:0004209	Clinodactyly of the 5th finger	132884	EVC2	OMIM:193530
HP:0004209	Clinodactyly of the 5th finger	132884	EVC2	ORPHA:952
HP:0004209	Clinodactyly of the 5th finger	2121	EVC	OMIM:193530
HP:0004209	Clinodactyly of the 5th finger	2121	EVC	ORPHA:952
HP:0004209	Clinodactyly of the 5th finger	2550	GABBR1	OMIM:620502
HP:0004209	Clinodactyly of the 5th finger	8364	H4C3	OMIM:619758
HP:0004209	Clinodactyly of the 5th finger	5590	PRKCZ	ORPHA:1606
HP:0004209	Clinodactyly of the 5th finger	2563	GABRD	ORPHA:1606
HP:0004209	Clinodactyly of the 5th finger	23013	SPEN	ORPHA:1606
HP:0004209	Clinodactyly of the 5th finger	8510	MMP23B	ORPHA:1606
HP:0004209	Clinodactyly of the 5th finger	7798	LUZP1	ORPHA:1606
HP:0004209	Clinodactyly of the 5th finger	6497	SKI	ORPHA:1606
HP:0004209	Clinodactyly of the 5th finger	10630	PDPN	ORPHA:1606
HP:0004209	Clinodactyly of the 5th finger	3339	HSPG2	ORPHA:1606
HP:0004209	Clinodactyly of the 5th finger	10277	UBE4B	ORPHA:1606
HP:0004209	Clinodactyly of the 5th finger	8514	KCNAB2	ORPHA:1606
HP:0004209	Clinodactyly of the 5th finger	473	RERE	ORPHA:1606
HP:0004209	Clinodactyly of the 5th finger	473	RERE	OMIM:616975
HP:0004209	Clinodactyly of the 5th finger	63976	PRDM16	ORPHA:1606
HP:0004209	Clinodactyly of the 5th finger	54897	CASZ1	ORPHA:1606
HP:0004209	Clinodactyly of the 5th finger	6134	RPL10	ORPHA:459070
HP:0004209	Clinodactyly of the 5th finger	6134	RPL10	OMIM:300998
HP:0004209	Clinodactyly of the 5th finger	7750	ZMYM2	OMIM:619522
HP:0004209	Clinodactyly of the 5th finger	4849	CNOT3	OMIM:618672
HP:0004209	Clinodactyly of the 5th finger	6942	TCF20	OMIM:618430
HP:0004209	Clinodactyly of the 5th finger	641	BLM	OMIM:210900
HP:0004209	Clinodactyly of the 5th finger	57492	ARID1B	ORPHA:251056
HP:0004209	Clinodactyly of the 5th finger	57492	ARID1B	OMIM:135900
HP:0004209	Clinodactyly of the 5th finger	63895	PIEZO2	ORPHA:376
HP:0004209	Clinodactyly of the 5th finger	23314	SATB2	ORPHA:576283
HP:0004209	Clinodactyly of the 5th finger	23314	SATB2	ORPHA:251028
HP:0004209	Clinodactyly of the 5th finger	23314	SATB2	ORPHA:251019
HP:0004209	Clinodactyly of the 5th finger	2239	GPC4	ORPHA:373
HP:0004209	Clinodactyly of the 5th finger	2239	GPC4	ORPHA:2662
HP:0004209	Clinodactyly of the 5th finger	2719	GPC3	ORPHA:373
HP:0004209	Clinodactyly of the 5th finger	23162	MAPK8IP3	OMIM:618443
HP:0004209	Clinodactyly of the 5th finger	8200	GDF5	OMIM:615298
HP:0004209	Clinodactyly of the 5th finger	8200	GDF5	OMIM:112600
HP:0004209	Clinodactyly of the 5th finger	8200	GDF5	ORPHA:93396
HP:0004209	Clinodactyly of the 5th finger	8200	GDF5	ORPHA:3250
HP:0004209	Clinodactyly of the 5th finger	8200	GDF5	ORPHA:93384
HP:0004209	Clinodactyly of the 5th finger	8200	GDF5	ORPHA:93388
HP:0004209	Clinodactyly of the 5th finger	8200	GDF5	OMIM:113100
HP:0004209	Clinodactyly of the 5th finger	23483	TGDS	OMIM:616145
HP:0004209	Clinodactyly of the 5th finger	23483	TGDS	ORPHA:1388
HP:0004209	Clinodactyly of the 5th finger	57479	PRR12	OMIM:619539
HP:0004209	Clinodactyly of the 5th finger	25836	NIPBL	OMIM:122470
HP:0004209	Clinodactyly of the 5th finger	25836	NIPBL	ORPHA:199
HP:0004209	Clinodactyly of the 5th finger	2317	FLNB	OMIM:272460
HP:0004209	Clinodactyly of the 5th finger	79087	ALG12	ORPHA:79324
HP:0004209	Clinodactyly of the 5th finger	6473	SHOX	ORPHA:240
HP:0004209	Clinodactyly of the 5th finger	1387	CREBBP	OMIM:618332
HP:0004209	Clinodactyly of the 5th finger	1387	CREBBP	OMIM:180849
HP:0004209	Clinodactyly of the 5th finger	1387	CREBBP	ORPHA:592574
HP:0004209	Clinodactyly of the 5th finger	26100	WIPI2	OMIM:618453
HP:0004209	Clinodactyly of the 5th finger	10533	ATG7	OMIM:619422
HP:0004209	Clinodactyly of the 5th finger	8295	TRRAP	OMIM:618454
HP:0004209	Clinodactyly of the 5th finger	9742	IFT140	OMIM:266920
HP:0004209	Clinodactyly of the 5th finger	7227	TRPS1	ORPHA:77258
HP:0004209	Clinodactyly of the 5th finger	2261	FGFR3	ORPHA:794
HP:0004209	Clinodactyly of the 5th finger	9949	AMMECR1	OMIM:300990
HP:0004209	Clinodactyly of the 5th finger	3479	IGF1	ORPHA:73272
HP:0004209	Clinodactyly of the 5th finger	3479	IGF1	OMIM:608747
HP:0004209	Clinodactyly of the 5th finger	658	BMPR1B	OMIM:112600
HP:0004209	Clinodactyly of the 5th finger	658	BMPR1B	ORPHA:93396
HP:0004209	Clinodactyly of the 5th finger	658	BMPR1B	ORPHA:93384
HP:0004209	Clinodactyly of the 5th finger	658	BMPR1B	ORPHA:93388
HP:0004209	Clinodactyly of the 5th finger	658	BMPR1B	OMIM:616849
HP:0004209	Clinodactyly of the 5th finger	650	BMP2	OMIM:112600
HP:0004209	Clinodactyly of the 5th finger	650	BMP2	ORPHA:93396
HP:0004209	Clinodactyly of the 5th finger	650	BMP2	OMIM:617877
HP:0004209	Clinodactyly of the 5th finger	22827	PUF60	ORPHA:508498
HP:0004209	Clinodactyly of the 5th finger	22827	PUF60	ORPHA:508488
HP:0004209	Clinodactyly of the 5th finger	6477	SIAH1	OMIM:619314
HP:0004209	Clinodactyly of the 5th finger	8473	OGT	OMIM:300997
HP:0004209	Clinodactyly of the 5th finger	10785	WDR4	OMIM:618347
HP:0004209	Clinodactyly of the 5th finger	1798	DPAGT1	OMIM:608093
HP:0004209	Clinodactyly of the 5th finger	100151683	RNU4ATAC	ORPHA:353298
HP:0004209	Clinodactyly of the 5th finger	100151683	RNU4ATAC	OMIM:226960
HP:0004209	Clinodactyly of the 5th finger	100151683	RNU4ATAC	OMIM:616651
HP:0004209	Clinodactyly of the 5th finger	100151683	RNU4ATAC	ORPHA:2636
HP:0004209	Clinodactyly of the 5th finger	170689	ADAMTS15	OMIM:620545
HP:0004209	Clinodactyly of the 5th finger	253738	EBF3	ORPHA:96148
HP:0004209	Clinodactyly of the 5th finger	90459	ERI1	OMIM:620663
HP:0004209	Clinodactyly of the 5th finger	90459	ERI1	OMIM:620662
HP:0004209	Clinodactyly of the 5th finger	4076	CAPRIN1	OMIM:620782
HP:0004209	Clinodactyly of the 5th finger	55869	HDAC8	OMIM:300882
HP:0004209	Clinodactyly of the 5th finger	55869	HDAC8	ORPHA:199
HP:0004209	Clinodactyly of the 5th finger	117581	TWIST2	OMIM:200110
HP:0004209	Clinodactyly of the 5th finger	117581	TWIST2	OMIM:209885
HP:0004209	Clinodactyly of the 5th finger	23030	KDM4B	OMIM:619320
HP:0004209	Clinodactyly of the 5th finger	9126	SMC3	OMIM:610759
HP:0004209	Clinodactyly of the 5th finger	9126	SMC3	ORPHA:199
HP:0004209	Clinodactyly of the 5th finger	1725	DHPS	OMIM:618480
HP:0004209	Clinodactyly of the 5th finger	55777	MBD5	OMIM:156200
HP:0004209	Clinodactyly of the 5th finger	55777	MBD5	ORPHA:228402
HP:0004209	Clinodactyly of the 5th finger	5980	REV3L	ORPHA:570
HP:0004209	Clinodactyly of the 5th finger	23129	PLXND1	ORPHA:570
HP:0004209	Clinodactyly of the 5th finger	4784	NFIX	OMIM:602535
HP:0004209	Clinodactyly of the 5th finger	4998	ORC1	OMIM:224690
HP:0004209	Clinodactyly of the 5th finger	4998	ORC1	ORPHA:2554
HP:0004209	Clinodactyly of the 5th finger	4052	LTBP1	OMIM:619451
HP:0004209	Clinodactyly of the 5th finger	8260	NAA10	OMIM:300855
HP:0004209	Clinodactyly of the 5th finger	8260	NAA10	ORPHA:568
HP:0004209	Clinodactyly of the 5th finger	7468	NSD2	OMIM:619695
HP:0004209	Clinodactyly of the 5th finger	23476	BRD4	OMIM:620568
HP:0004209	Clinodactyly of the 5th finger	23476	BRD4	ORPHA:199
HP:0004209	Clinodactyly of the 5th finger	9496	TBX4	ORPHA:261279
HP:0004209	Clinodactyly of the 5th finger	8091	HMGA2	ORPHA:94063
HP:0004209	Clinodactyly of the 5th finger	8091	HMGA2	ORPHA:397590
HP:0004209	Clinodactyly of the 5th finger	23592	LEMD3	ORPHA:94063
HP:0004209	Clinodactyly of the 5th finger	164	AP1G1	OMIM:619467
HP:0004209	Clinodactyly of the 5th finger	5283	PIGH	OMIM:618010
HP:0004209	Clinodactyly of the 5th finger	51715	RAB23	ORPHA:65759
HP:0004209	Clinodactyly of the 5th finger	51715	RAB23	OMIM:201000
HP:0004209	Clinodactyly of the 5th finger	1954	MEGF8	ORPHA:65759
HP:0004209	Clinodactyly of the 5th finger	1954	MEGF8	OMIM:614976
HP:0004209	Clinodactyly of the 5th finger	6874	TAF4	OMIM:620450
HP:0004209	Clinodactyly of the 5th finger	50801	KCNK4	OMIM:618381
HP:0004209	Clinodactyly of the 5th finger	9757	KMT2B	ORPHA:589618
HP:0004209	Clinodactyly of the 5th finger	4613	MYCN	ORPHA:391641
HP:0004209	Clinodactyly of the 5th finger	57003	CCDC47	OMIM:618268
HP:0004209	Clinodactyly of the 5th finger	8812	CCNK	OMIM:618147
HP:0004209	Clinodactyly of the 5th finger	5977	DPF2	OMIM:618027
HP:0004209	Clinodactyly of the 5th finger	29895	MYL11	OMIM:619110
HP:0004209	Clinodactyly of the 5th finger	94005	PIGS	OMIM:618143
HP:0004209	Clinodactyly of the 5th finger	145173	B3GLCT	OMIM:261540
HP:0004209	Clinodactyly of the 5th finger	145173	B3GLCT	ORPHA:709
HP:0004209	Clinodactyly of the 5th finger	2033	EP300	OMIM:180849
HP:0004209	Clinodactyly of the 5th finger	92002	CCNQ	OMIM:300707
HP:0004209	Clinodactyly of the 5th finger	92002	CCNQ	ORPHA:140952
HP:0004209	Clinodactyly of the 5th finger	285590	SH3PXD2B	ORPHA:137834
HP:0004209	Clinodactyly of the 5th finger	80036	TRPM3	OMIM:620224
HP:0004209	Clinodactyly of the 5th finger	1836	SLC26A2	ORPHA:628
HP:0004209	Clinodactyly of the 5th finger	526	ATP6V1B2	ORPHA:79500
HP:0004209	Clinodactyly of the 5th finger	57465	TBC1D24	ORPHA:79500
HP:0004209	Clinodactyly of the 5th finger	57465	TBC1D24	OMIM:220500
HP:0004209	Clinodactyly of the 5th finger	207	AKT1	ORPHA:744
HP:0004209	Clinodactyly of the 5th finger	2887	GRB10	ORPHA:96182
HP:0004209	Clinodactyly of the 5th finger	1457	CSNK2A1	OMIM:617062
HP:0004209	Clinodactyly of the 5th finger	7204	TRIO	OMIM:617061
HP:0004209	Clinodactyly of the 5th finger	7204	TRIO	ORPHA:476126
HP:0004209	Clinodactyly of the 5th finger	2077	ERF	OMIM:617180
HP:0004209	Clinodactyly of the 5th finger	28952	CCDC22	OMIM:300963
HP:0004209	Clinodactyly of the 5th finger	90416	CCDC32	OMIM:619123
HP:0004209	Clinodactyly of the 5th finger	8450	CUL4B	ORPHA:85293
HP:0004209	Clinodactyly of the 5th finger	55717	WDR11	OMIM:620237
HP:0004209	Clinodactyly of the 5th finger	6299	SALL1	ORPHA:857
HP:0004209	Clinodactyly of the 5th finger	51339	DACT1	ORPHA:857
HP:0004209	Clinodactyly of the 5th finger	118924	FRA10AC1	OMIM:620113
HP:0004209	Clinodactyly of the 5th finger	22995	CEP152	OMIM:613823
HP:0004209	Clinodactyly of the 5th finger	22995	CEP152	ORPHA:808
HP:0004209	Clinodactyly of the 5th finger	3549	IHH	OMIM:112500
HP:0004209	Clinodactyly of the 5th finger	3549	IHH	ORPHA:93388
HP:0004209	Clinodactyly of the 5th finger	3090	HIC1	ORPHA:531
HP:0004209	Clinodactyly of the 5th finger	10436	EMG1	OMIM:211180
HP:0004209	Clinodactyly of the 5th finger	10436	EMG1	ORPHA:1270
HP:0004209	Clinodactyly of the 5th finger	23387	SIK3	OMIM:618162
HP:0004209	Clinodactyly of the 5th finger	10084	PQBP1	OMIM:309500
HP:0004209	Clinodactyly of the 5th finger	5745	PTH1R	OMIM:156400
HP:0004209	Clinodactyly of the 5th finger	89970	RSPRY1	ORPHA:457395
HP:0004209	Clinodactyly of the 5th finger	9487	PIGL	OMIM:280000
HP:0004209	Clinodactyly of the 5th finger	22800	RRAS2	ORPHA:648
HP:0004209	Clinodactyly of the 5th finger	867	CBL	ORPHA:648
HP:0004209	Clinodactyly of the 5th finger	8216	LZTR1	ORPHA:648
HP:0004209	Clinodactyly of the 5th finger	6016	RIT1	ORPHA:648
HP:0004209	Clinodactyly of the 5th finger	6237	RRAS	ORPHA:648
HP:0004209	Clinodactyly of the 5th finger	5894	RAF1	ORPHA:648
HP:0004209	Clinodactyly of the 5th finger	22808	MRAS	ORPHA:648
HP:0004209	Clinodactyly of the 5th finger	3845	KRAS	ORPHA:648
HP:0004209	Clinodactyly of the 5th finger	200734	SPRED2	ORPHA:648
HP:0004209	Clinodactyly of the 5th finger	4893	NRAS	ORPHA:648
HP:0004209	Clinodactyly of the 5th finger	6654	SOS1	ORPHA:648
HP:0004209	Clinodactyly of the 5th finger	6655	SOS2	ORPHA:648
HP:0004209	Clinodactyly of the 5th finger	5781	PTPN11	ORPHA:648
HP:0004209	Clinodactyly of the 5th finger	5922	RASA2	ORPHA:648
HP:0004209	Clinodactyly of the 5th finger	23522	KAT6B	ORPHA:3047
HP:0004209	Clinodactyly of the 5th finger	6913	TBX15	OMIM:260660
HP:0004209	Clinodactyly of the 5th finger	79023	NUP37	OMIM:618179
HP:0004209	Clinodactyly of the 5th finger	375056	MIA3	OMIM:619269
HP:0004209	Clinodactyly of the 5th finger	27161	AGO2	OMIM:619149
HP:0004209	Clinodactyly of the 5th finger	5567	PRKACB	OMIM:619143
HP:0004209	Clinodactyly of the 5th finger	221927	BRAT1	OMIM:618056
HP:0004209	Clinodactyly of the 5th finger	8823	FGF16	OMIM:309630
HP:0004209	Clinodactyly of the 5th finger	5518	PPP2R1A	ORPHA:457284
HP:0004209	Clinodactyly of the 5th finger	161742	SPRED1	ORPHA:137605
HP:0004209	Clinodactyly of the 5th finger	8085	KMT2D	OMIM:147920
HP:0004209	Clinodactyly of the 5th finger	8085	KMT2D	ORPHA:2322
HP:0004209	Clinodactyly of the 5th finger	7403	KDM6A	OMIM:147920
HP:0004209	Clinodactyly of the 5th finger	7403	KDM6A	ORPHA:2322
HP:0004209	Clinodactyly of the 5th finger	7337	UBE3A	ORPHA:238446
HP:0004209	Clinodactyly of the 5th finger	58499	ZNF462	ORPHA:502430
HP:0004209	Clinodactyly of the 5th finger	58499	ZNF462	OMIM:618619
HP:0004209	Clinodactyly of the 5th finger	1832	DSP	ORPHA:158687
HP:0004209	Clinodactyly of the 5th finger	1832	DSP	OMIM:609638
HP:0004209	Clinodactyly of the 5th finger	3728	JUP	ORPHA:158687
HP:0004209	Clinodactyly of the 5th finger	23241	PACS2	OMIM:618067
HP:0004209	Clinodactyly of the 5th finger	26128	KIFBP	OMIM:609460
HP:0004209	Clinodactyly of the 5th finger	23556	PIGN	ORPHA:2059
HP:0004209	Clinodactyly of the 5th finger	5885	RAD21	OMIM:614701
HP:0004209	Clinodactyly of the 5th finger	5885	RAD21	ORPHA:199
HP:0004209	Clinodactyly of the 5th finger	673	BRAF	OMIM:115150
HP:0004209	Clinodactyly of the 5th finger	7518	XRCC4	ORPHA:99812
HP:0004209	Clinodactyly of the 5th finger	3209	HOXA13	OMIM:140000
HP:0004209	Clinodactyly of the 5th finger	3209	HOXA13	ORPHA:2438
HP:0004209	Clinodactyly of the 5th finger	8854	ALDH1A2	OMIM:620025
HP:0004209	Clinodactyly of the 5th finger	10274	STAG1	ORPHA:502434
HP:0004209	Clinodactyly of the 5th finger	9241	NOG	ORPHA:3250
HP:0004209	Clinodactyly of the 5th finger	9241	NOG	OMIM:186500
HP:0004209	Clinodactyly of the 5th finger	3239	HOXD13	OMIM:186000
HP:0004209	Clinodactyly of the 5th finger	3239	HOXD13	ORPHA:93406
HP:0004209	Clinodactyly of the 5th finger	374654	KIF7	OMIM:200990
HP:0004209	Clinodactyly of the 5th finger	613	BCR	ORPHA:261330
HP:0004209	Clinodactyly of the 5th finger	1399	CRKL	ORPHA:261330
HP:0004209	Clinodactyly of the 5th finger	5594	MAPK1	ORPHA:261330
HP:0004209	Clinodactyly of the 5th finger	89910	UBE3B	OMIM:244450
HP:0004209	Clinodactyly of the 5th finger	2314	FLII	ORPHA:819
HP:0004209	Clinodactyly of the 5th finger	23096	IQSEC2	ORPHA:819
HP:0004209	Clinodactyly of the 5th finger	10743	RAI1	ORPHA:819
HP:0004209	Clinodactyly of the 5th finger	10743	RAI1	OMIM:182290
HP:0004209	Clinodactyly of the 5th finger	10522	DEAF1	ORPHA:819
HP:0004209	Clinodactyly of the 5th finger	150468	CKAP2L	ORPHA:3255
HP:0004209	Clinodactyly of the 5th finger	7175	TPR	OMIM:620393
HP:0004209	Clinodactyly of the 5th finger	6595	SMARCA2	OMIM:619293
HP:0004209	Clinodactyly of the 5th finger	672	BRCA1	ORPHA:84
HP:0004209	Clinodactyly of the 5th finger	10459	MAD2L2	ORPHA:84
HP:0004209	Clinodactyly of the 5th finger	7516	XRCC2	ORPHA:84
HP:0004209	Clinodactyly of the 5th finger	29089	UBE2T	ORPHA:84
HP:0004209	Clinodactyly of the 5th finger	675	BRCA2	ORPHA:84
HP:0004209	Clinodactyly of the 5th finger	55120	FANCL	ORPHA:84
HP:0004209	Clinodactyly of the 5th finger	2177	FANCD2	ORPHA:84
HP:0004209	Clinodactyly of the 5th finger	2175	FANCA	ORPHA:84
HP:0004209	Clinodactyly of the 5th finger	2187	FANCB	ORPHA:84
HP:0004209	Clinodactyly of the 5th finger	2176	FANCC	ORPHA:84
HP:0004209	Clinodactyly of the 5th finger	2178	FANCE	ORPHA:84
HP:0004209	Clinodactyly of the 5th finger	2188	FANCF	ORPHA:84
HP:0004209	Clinodactyly of the 5th finger	2189	FANCG	ORPHA:84
HP:0004209	Clinodactyly of the 5th finger	5888	RAD51	ORPHA:84
HP:0004209	Clinodactyly of the 5th finger	5889	RAD51C	ORPHA:84
HP:0004209	Clinodactyly of the 5th finger	55159	RFWD3	ORPHA:84
HP:0004209	Clinodactyly of the 5th finger	83990	BRIP1	ORPHA:84
HP:0004209	Clinodactyly of the 5th finger	57697	FANCM	ORPHA:84
HP:0004209	Clinodactyly of the 5th finger	79728	PALB2	ORPHA:84
HP:0004209	Clinodactyly of the 5th finger	84464	SLX4	ORPHA:84
HP:0004209	Clinodactyly of the 5th finger	2072	ERCC4	ORPHA:84
HP:0004209	Clinodactyly of the 5th finger	55215	FANCI	ORPHA:84
HP:0004209	Clinodactyly of the 5th finger	546	ATRX	ORPHA:847
HP:0004209	Clinodactyly of the 5th finger	84823	LMNB2	OMIM:619180
HP:0004209	Clinodactyly of the 5th finger	9184	BUB3	ORPHA:1052
HP:0004209	Clinodactyly of the 5th finger	699	BUB1	ORPHA:1052
HP:0004209	Clinodactyly of the 5th finger	699	BUB1	OMIM:620183
HP:0004209	Clinodactyly of the 5th finger	9702	CEP57	ORPHA:1052
HP:0004209	Clinodactyly of the 5th finger	9702	CEP57	OMIM:614114
HP:0004209	Clinodactyly of the 5th finger	9319	TRIP13	ORPHA:1052
HP:0004209	Clinodactyly of the 5th finger	701	BUB1B	ORPHA:1052
HP:0004209	Clinodactyly of the 5th finger	54476	RNF216	ORPHA:1173
HP:0004209	Clinodactyly of the 5th finger	10908	PNPLA6	ORPHA:1173
HP:0004209	Clinodactyly of the 5th finger	23036	ZNF292	OMIM:619188
HP:0004209	Clinodactyly of the 5th finger	51199	NIN	OMIM:614851
HP:0004209	Clinodactyly of the 5th finger	51199	NIN	ORPHA:319675
HP:0004209	Clinodactyly of the 5th finger	79813	EHMT1	OMIM:610253
HP:0004209	Clinodactyly of the 5th finger	25942	SIN3A	OMIM:613406
HP:0004209	Clinodactyly of the 5th finger	4953	ODC1	OMIM:619075
HP:0004209	Clinodactyly of the 5th finger	4953	ODC1	ORPHA:544488
HP:0004209	Clinodactyly of the 5th finger	1857	DVL3	ORPHA:3107
HP:0004209	Clinodactyly of the 5th finger	7474	WNT5A	ORPHA:3107
HP:0004209	Clinodactyly of the 5th finger	1855	DVL1	ORPHA:3107
HP:0004209	Clinodactyly of the 5th finger	2535	FZD2	ORPHA:3107
HP:0004209	Clinodactyly of the 5th finger	2535	FZD2	OMIM:164745
HP:0004209	Clinodactyly of the 5th finger	26053	AUTS2	OMIM:615834
HP:0004209	Clinodactyly of the 5th finger	6804	STX1A	ORPHA:904
HP:0004209	Clinodactyly of the 5th finger	7461	CLIP2	ORPHA:904
HP:0004209	Clinodactyly of the 5th finger	84277	DNAJC30	ORPHA:904
HP:0004209	Clinodactyly of the 5th finger	8468	FKBP6	ORPHA:904
HP:0004209	Clinodactyly of the 5th finger	5982	RFC2	ORPHA:904
HP:0004209	Clinodactyly of the 5th finger	2969	GTF2I	ORPHA:904
HP:0004209	Clinodactyly of the 5th finger	3984	LIMK1	ORPHA:904
HP:0004209	Clinodactyly of the 5th finger	9569	GTF2IRD1	ORPHA:904
HP:0004209	Clinodactyly of the 5th finger	155382	VPS37D	ORPHA:904
HP:0004209	Clinodactyly of the 5th finger	155368	METTL27	ORPHA:904
HP:0004209	Clinodactyly of the 5th finger	114049	BUD23	ORPHA:904
HP:0004209	Clinodactyly of the 5th finger	7458	EIF4H	ORPHA:904
HP:0004209	Clinodactyly of the 5th finger	84163	GTF2IRD2	ORPHA:904
HP:0004209	Clinodactyly of the 5th finger	26608	TBL2	ORPHA:904
HP:0004209	Clinodactyly of the 5th finger	653361	NCF1	ORPHA:904
HP:0004209	Clinodactyly of the 5th finger	135886	TMEM270	ORPHA:904
HP:0004209	Clinodactyly of the 5th finger	9031	BAZ1B	ORPHA:904
HP:0004209	Clinodactyly of the 5th finger	2006	ELN	ORPHA:904
HP:0004209	Clinodactyly of the 5th finger	2006	ELN	OMIM:194050
HP:0004209	Clinodactyly of the 5th finger	2122	MECOM	ORPHA:71289
HP:0004209	Clinodactyly of the 5th finger	3207	HOXA11	ORPHA:71289
HP:0004209	Clinodactyly of the 5th finger	3207	HOXA11	OMIM:605432
HP:0004209	Clinodactyly of the 5th finger	81031	SLC2A10	ORPHA:3342
HP:0004209	Clinodactyly of the 5th finger	55165	CEP55	OMIM:236500
HP:0004209	Clinodactyly of the 5th finger	157570	ESCO2	ORPHA:3103
HP:0004209	Clinodactyly of the 5th finger	84992	PIGY	OMIM:616809
HP:0004209	Clinodactyly of the 5th finger	10236	HNRNPR	OMIM:620073
HP:0004209	Clinodactyly of the 5th finger	4094	MAF	ORPHA:1272
HP:0004209	Clinodactyly of the 5th finger	6628	SNRPB	ORPHA:1393
HP:0004209	Clinodactyly of the 5th finger	6628	SNRPB	OMIM:117650
HP:0004209	Clinodactyly of the 5th finger	4089	SMAD4	OMIM:139210
HP:0004209	Clinodactyly of the 5th finger	1028	CDKN1C	ORPHA:397590
HP:0004209	Clinodactyly of the 5th finger	5324	PLAG1	ORPHA:397590
HP:0004209	Clinodactyly of the 5th finger	9555	MACROH2A1	ORPHA:1275
HP:0004209	Clinodactyly of the 5th finger	5307	PITX1	ORPHA:1275
HP:0004209	Clinodactyly of the 5th finger	5422	POLA1	ORPHA:163976
HP:0004209	Clinodactyly of the 5th finger	5422	POLA1	OMIM:301030
HP:0004209	Clinodactyly of the 5th finger	55906	ZC4H2	ORPHA:3454
HP:0004209	Clinodactyly of the 5th finger	51085	MLXIPL	OMIM:194050
HP:0004209	Clinodactyly of the 5th finger	10430	TMEM147	OMIM:620075
HP:0004209	Clinodactyly of the 5th finger	3187	HNRNPH1	OMIM:620083
HP:0004209	Clinodactyly of the 5th finger	1482	NKX2-5	OMIM:187500
HP:0004209	Clinodactyly of the 5th finger	1482	NKX2-5	ORPHA:3303
HP:0004209	Clinodactyly of the 5th finger	6899	TBX1	OMIM:187500
HP:0004209	Clinodactyly of the 5th finger	6899	TBX1	ORPHA:3303
HP:0004209	Clinodactyly of the 5th finger	2626	GATA4	OMIM:187500
HP:0004209	Clinodactyly of the 5th finger	2626	GATA4	ORPHA:3303
HP:0004209	Clinodactyly of the 5th finger	23414	ZFPM2	OMIM:187500
HP:0004209	Clinodactyly of the 5th finger	23414	ZFPM2	ORPHA:3303
HP:0004209	Clinodactyly of the 5th finger	182	JAG1	OMIM:187500
HP:0004209	Clinodactyly of the 5th finger	182	JAG1	ORPHA:3303
HP:0004209	Clinodactyly of the 5th finger	2627	GATA6	OMIM:187500
HP:0004209	Clinodactyly of the 5th finger	2627	GATA6	ORPHA:3303
HP:0004209	Clinodactyly of the 5th finger	545	ATR	ORPHA:808
HP:0004209	Clinodactyly of the 5th finger	545	ATR	OMIM:210600
HP:0004209	Clinodactyly of the 5th finger	1062	CENPE	ORPHA:808
HP:0004209	Clinodactyly of the 5th finger	5116	PCNT	ORPHA:808
HP:0004209	Clinodactyly of the 5th finger	5116	PCNT	OMIM:210720
HP:0004209	Clinodactyly of the 5th finger	5116	PCNT	ORPHA:2637
HP:0004209	Clinodactyly of the 5th finger	79902	NUP85	ORPHA:808
HP:0004209	Clinodactyly of the 5th finger	84126	ATRIP	ORPHA:808
HP:0004209	Clinodactyly of the 5th finger	10293	TRAIP	ORPHA:808
HP:0004209	Clinodactyly of the 5th finger	1763	DNA2	ORPHA:808
HP:0004209	Clinodactyly of the 5th finger	10733	PLK4	ORPHA:808
HP:0004209	Clinodactyly of the 5th finger	9939	RBM8A	ORPHA:3320
HP:0004209	Clinodactyly of the 5th finger	9939	RBM8A	OMIM:274000
HP:0004209	Clinodactyly of the 5th finger	55023	PHIP	ORPHA:589905
HP:0004209	Clinodactyly of the 5th finger	55023	PHIP	OMIM:617991
HP:0004209	Clinodactyly of the 5th finger	8626	TP63	ORPHA:69085
HP:0004209	Clinodactyly of the 5th finger	29123	ANKRD11	OMIM:148050
HP:0004209	Clinodactyly of the 5th finger	9775	EIF4A3	OMIM:268305
HP:0004209	Clinodactyly of the 5th finger	2703	GJA8	OMIM:612474
HP:0004209	Clinodactyly of the 5th finger	2702	GJA5	OMIM:612474
HP:0004209	Clinodactyly of the 5th finger	2702	GJA5	ORPHA:3303
HP:0004209	Clinodactyly of the 5th finger	3897	L1CAM	ORPHA:2466
HP:0004209	Clinodactyly of the 5th finger	4208	MEF2C	OMIM:613443
HP:0004209	Clinodactyly of the 5th finger	129880	BBS5	OMIM:615983
HP:0004209	Clinodactyly of the 5th finger	55690	PACS1	ORPHA:329224
HP:0004209	Clinodactyly of the 5th finger	2245	FGD1	ORPHA:915
HP:0004209	Clinodactyly of the 5th finger	2245	FGD1	OMIM:305400
HP:0004209	Clinodactyly of the 5th finger	9230	RAB11B	OMIM:617807
HP:0004209	Clinodactyly of the 5th finger	84181	CHD6	ORPHA:2108
HP:0004209	Clinodactyly of the 5th finger	22856	CHSY1	ORPHA:363417
HP:0004209	Clinodactyly of the 5th finger	51621	KLF13	OMIM:612001
HP:0004209	Clinodactyly of the 5th finger	5648	MASP1	OMIM:257920
HP:0004209	Clinodactyly of the 5th finger	23394	ADNP	OMIM:615873
HP:0004209	Clinodactyly of the 5th finger	9759	HDAC4	ORPHA:1001
HP:0004209	Clinodactyly of the 5th finger	11133	KPTN	OMIM:615637
HP:0004209	Clinodactyly of the 5th finger	11133	KPTN	ORPHA:397612
HP:0004209	Clinodactyly of the 5th finger	85358	SHANK3	OMIM:606232
HP:0004209	Clinodactyly of the 5th finger	23028	KDM1A	OMIM:616728
HP:0004209	Clinodactyly of the 5th finger	23028	KDM1A	ORPHA:477993
HP:0004209	Clinodactyly of the 5th finger	137814	NKX2-6	ORPHA:3303
HP:0004209	Clinodactyly of the 5th finger	3791	KDR	ORPHA:3303
HP:0004209	Clinodactyly of the 5th finger	2657	GDF1	ORPHA:3303
HP:0004209	Clinodactyly of the 5th finger	140628	GATA5	ORPHA:3303
HP:0004209	Clinodactyly of the 5th finger	2324	FLT4	ORPHA:3303
HP:0004209	Clinodactyly of the 5th finger	10370	CITED2	ORPHA:3303
HP:0004209	Clinodactyly of the 5th finger	2334	AFF2	ORPHA:100973
HP:0004209	Clinodactyly of the 5th finger	10847	SRCAP	OMIM:136140
HP:0004209	Clinodactyly of the 5th finger	83479	DDX59	OMIM:174300
HP:0004209	Clinodactyly of the 5th finger	10982	MAPRE2	OMIM:616734
HP:0004209	Clinodactyly of the 5th finger	4131	MAP1B	OMIM:618918
HP:0004209	Clinodactyly of the 5th finger	4750	NEK1	OMIM:252100
HP:0004209	Clinodactyly of the 5th finger	54808	DYM	OMIM:223800
HP:0004209	Clinodactyly of the 5th finger	84679	SLC9A7	OMIM:301024
HP:0004209	Clinodactyly of the 5th finger	10735	STAG2	OMIM:301022
HP:0004209	Clinodactyly of the 5th finger	10265	IRX5	OMIM:611174
HP:0004209	Clinodactyly of the 5th finger	5925	RB1	ORPHA:1587
HP:0004209	Clinodactyly of the 5th finger	7874	USP7	OMIM:616863
HP:0004209	Clinodactyly of the 5th finger	3759	KCNJ2	OMIM:170390
HP:0004209	Clinodactyly of the 5th finger	81620	CDT1	ORPHA:2554
HP:0004209	Clinodactyly of the 5th finger	5000	ORC4	ORPHA:2554
HP:0004209	Clinodactyly of the 5th finger	23594	ORC6	ORPHA:2554
HP:0004209	Clinodactyly of the 5th finger	8318	CDC45	ORPHA:2554
HP:0004209	Clinodactyly of the 5th finger	990	CDC6	ORPHA:2554
HP:0004209	Clinodactyly of the 5th finger	51053	GMNN	ORPHA:2554
HP:0004209	Clinodactyly of the 5th finger	64093	SMOC1	ORPHA:1106
HP:0004209	Clinodactyly of the 5th finger	25	ABL1	OMIM:617602
HP:0004209	Clinodactyly of the 5th finger	83696	TRAPPC9	ORPHA:352530
HP:0004209	Clinodactyly of the 5th finger	860	RUNX2	ORPHA:1452
HP:0004209	Clinodactyly of the 5th finger	29980	DONSON	OMIM:617604
HP:0004209	Clinodactyly of the 5th finger	6638	SNRPN	ORPHA:177907
HP:0004209	Clinodactyly of the 5th finger	8243	SMC1A	ORPHA:199
HP:0004209	Clinodactyly of the 5th finger	6878	TAF6	ORPHA:199
HP:0004209	Clinodactyly of the 5th finger	10664	CTCF	ORPHA:363611
HP:0004209	Clinodactyly of the 5th finger	157680	VPS13B	ORPHA:193
HP:0004209	Clinodactyly of the 5th finger	22931	RAB18	OMIM:614222
HP:0004209	Clinodactyly of the 5th finger	9894	TELO2	ORPHA:488642
HP:0004209	Clinodactyly of the 5th finger	80232	WDR26	OMIM:617616
HP:0004209	Clinodactyly of the 5th finger	490	ATP2B1	OMIM:619910
HP:0004209	Clinodactyly of the 5th finger	8405	SPOP	OMIM:618828
HP:0004209	Clinodactyly of the 5th finger	8405	SPOP	OMIM:618829
HP:0004209	Clinodactyly of the 5th finger	284252	KCTD1	OMIM:181270
HP:0004209	Clinodactyly of the 5th finger	54870	QRICH1	OMIM:617982
HP:0004209	Clinodactyly of the 5th finger	139285	AMER1	OMIM:300373
HP:0004209	Clinodactyly of the 5th finger	4841	NONO	ORPHA:466791
HP:0004209	Clinodactyly of the 5th finger	1663	DDX11	OMIM:613398
HP:0004209	Clinodactyly of the 5th finger	51317	PHF21A	OMIM:618725
HP:0004209	Clinodactyly of the 5th finger	2186	BPTF	OMIM:617755
HP:0004209	Clinodactyly of the 5th finger	59341	TRPV4	ORPHA:2635
HP:0004209	Clinodactyly of the 5th finger	10225	CD96	ORPHA:1308
HP:0004209	Clinodactyly of the 5th finger	8481	OFD1	ORPHA:2750
HP:0004209	Clinodactyly of the 5th finger	4848	CNOT2	OMIM:618608
HP:0004209	Clinodactyly of the 5th finger	64131	XYLT1	ORPHA:1425
HP:0004209	Clinodactyly of the 5th finger	124583	CANT1	ORPHA:1425
HP:0004209	Clinodactyly of the 5th finger	55790	CSGALNACT1	ORPHA:1425
HP:0004209	Clinodactyly of the 5th finger	6910	TBX5	OMIM:142900
HP:0004209	Clinodactyly of the 5th finger	4204	MECP2	OMIM:300260
HP:0004209	Clinodactyly of the 5th finger	55553	SOX6	OMIM:618971
HP:0004209	Clinodactyly of the 5th finger	84148	KAT8	OMIM:618974
HP:0004209	Clinodactyly of the 5th finger	4882	NPR2	OMIM:615923
HP:0004209	Clinodactyly of the 5th finger	92482	BBIP1	ORPHA:110
HP:0004209	Clinodactyly of the 5th finger	80184	CEP290	ORPHA:110
HP:0004209	Clinodactyly of the 5th finger	11020	IFT27	ORPHA:110
HP:0004209	Clinodactyly of the 5th finger	582	BBS1	ORPHA:110
HP:0004209	Clinodactyly of the 5th finger	49855	SCAPER	ORPHA:110
HP:0004209	Clinodactyly of the 5th finger	4867	NPHP1	ORPHA:110
HP:0004209	Clinodactyly of the 5th finger	51057	WDPCP	ORPHA:110
HP:0004209	Clinodactyly of the 5th finger	132320	SCLT1	ORPHA:110
HP:0004209	Clinodactyly of the 5th finger	27241	BBS9	ORPHA:110
HP:0004209	Clinodactyly of the 5th finger	84984	CEP19	ORPHA:110
HP:0004209	Clinodactyly of the 5th finger	22954	TRIM32	ORPHA:110
HP:0004209	Clinodactyly of the 5th finger	54903	MKS1	ORPHA:110
HP:0004209	Clinodactyly of the 5th finger	79738	BBS10	ORPHA:110
HP:0004209	Clinodactyly of the 5th finger	123016	TTC8	ORPHA:110
HP:0004209	Clinodactyly of the 5th finger	26160	IFT172	ORPHA:110
HP:0004209	Clinodactyly of the 5th finger	583	BBS2	ORPHA:110
HP:0004209	Clinodactyly of the 5th finger	585	BBS4	ORPHA:110
HP:0004209	Clinodactyly of the 5th finger	8195	MKKS	ORPHA:110
HP:0004209	Clinodactyly of the 5th finger	54585	LZTFL1	ORPHA:110
HP:0004209	Clinodactyly of the 5th finger	55212	BBS7	ORPHA:110
HP:0004209	Clinodactyly of the 5th finger	166379	BBS12	ORPHA:110
HP:0004209	Clinodactyly of the 5th finger	10806	SDCCAG8	ORPHA:110
HP:0004209	Clinodactyly of the 5th finger	157657	CFAP418	ORPHA:110
HP:0004209	Clinodactyly of the 5th finger	84100	ARL6	ORPHA:110
HP:0004209	Clinodactyly of the 5th finger	80173	IFT74	ORPHA:110
HP:0004207	Abnormal 5th finger morphology	2737	GLI3	ORPHA:672
HP:0004207	Abnormal 5th finger morphology	2737	GLI3	ORPHA:36
HP:0004207	Abnormal 5th finger morphology	2737	GLI3	ORPHA:380
HP:0004207	Abnormal 5th finger morphology	2737	GLI3	OMIM:146510
HP:0004207	Abnormal 5th finger morphology	2737	GLI3	OMIM:175700
HP:0004207	Abnormal 5th finger morphology	2737	GLI3	OMIM:174200
HP:0004207	Abnormal 5th finger morphology	6309	SC5D	ORPHA:46059
HP:0004207	Abnormal 5th finger morphology	6309	SC5D	OMIM:607330
HP:0004207	Abnormal 5th finger morphology	894	CCND2	ORPHA:83473
HP:0004207	Abnormal 5th finger morphology	894	CCND2	OMIM:615938
HP:0004207	Abnormal 5th finger morphology	5296	PIK3R2	ORPHA:83473
HP:0004207	Abnormal 5th finger morphology	10000	AKT3	ORPHA:83473
HP:0004207	Abnormal 5th finger morphology	10000	AKT3	OMIM:615937
HP:0004207	Abnormal 5th finger morphology	4750	NEK1	OMIM:263520
HP:0004207	Abnormal 5th finger morphology	4750	NEK1	OMIM:252100
HP:0004207	Abnormal 5th finger morphology	4750	NEK1	ORPHA:2751
HP:0004207	Abnormal 5th finger morphology	26160	IFT172	OMIM:615630
HP:0004207	Abnormal 5th finger morphology	26160	IFT172	ORPHA:474
HP:0004207	Abnormal 5th finger morphology	26160	IFT172	OMIM:619471
HP:0004207	Abnormal 5th finger morphology	54585	LZTFL1	OMIM:615994
HP:0004207	Abnormal 5th finger morphology	57539	WDR35	OMIM:613610
HP:0004207	Abnormal 5th finger morphology	57539	WDR35	ORPHA:93271
HP:0004207	Abnormal 5th finger morphology	8195	MKKS	OMIM:236700
HP:0004207	Abnormal 5th finger morphology	8195	MKKS	ORPHA:2473
HP:0004207	Abnormal 5th finger morphology	51259	TMEM216	OMIM:608091
HP:0004207	Abnormal 5th finger morphology	51259	TMEM216	OMIM:603194
HP:0004207	Abnormal 5th finger morphology	51259	TMEM216	ORPHA:564
HP:0004207	Abnormal 5th finger morphology	56623	INPP5E	OMIM:213300
HP:0004207	Abnormal 5th finger morphology	56623	INPP5E	ORPHA:1454
HP:0004207	Abnormal 5th finger morphology	55593	OTUD5	OMIM:301056
HP:0004207	Abnormal 5th finger morphology	374654	KIF7	ORPHA:36
HP:0004207	Abnormal 5th finger morphology	374654	KIF7	OMIM:200990
HP:0004207	Abnormal 5th finger morphology	374654	KIF7	OMIM:614120
HP:0004207	Abnormal 5th finger morphology	374654	KIF7	ORPHA:2189
HP:0004207	Abnormal 5th finger morphology	91147	TMEM67	OMIM:216360
HP:0004207	Abnormal 5th finger morphology	91147	TMEM67	ORPHA:564
HP:0004207	Abnormal 5th finger morphology	91147	TMEM67	ORPHA:1454
HP:0004207	Abnormal 5th finger morphology	91147	TMEM67	OMIM:607361
HP:0004207	Abnormal 5th finger morphology	64327	LMBR1	OMIM:190605
HP:0004207	Abnormal 5th finger morphology	55112	DYNC2I1	ORPHA:93271
HP:0004207	Abnormal 5th finger morphology	55112	DYNC2I1	ORPHA:474
HP:0004207	Abnormal 5th finger morphology	57560	IFT80	ORPHA:93271
HP:0004207	Abnormal 5th finger morphology	57560	IFT80	ORPHA:474
HP:0004207	Abnormal 5th finger morphology	57560	IFT80	OMIM:611263
HP:0004207	Abnormal 5th finger morphology	79659	DYNC2H1	ORPHA:93271
HP:0004207	Abnormal 5th finger morphology	79659	DYNC2H1	ORPHA:474
HP:0004207	Abnormal 5th finger morphology	89891	DYNC2I2	ORPHA:93271
HP:0004207	Abnormal 5th finger morphology	89891	DYNC2I2	ORPHA:474
HP:0004207	Abnormal 5th finger morphology	23322	RPGRIP1L	OMIM:611561
HP:0004207	Abnormal 5th finger morphology	23322	RPGRIP1L	OMIM:611560
HP:0004207	Abnormal 5th finger morphology	23322	RPGRIP1L	ORPHA:564
HP:0004207	Abnormal 5th finger morphology	23322	RPGRIP1L	ORPHA:1454
HP:0004207	Abnormal 5th finger morphology	83479	DDX59	OMIM:174300
HP:0004207	Abnormal 5th finger morphology	83479	DDX59	ORPHA:2919
HP:0004207	Abnormal 5th finger morphology	4149	MAX	OMIM:620712
HP:0004207	Abnormal 5th finger morphology	1717	DHCR7	ORPHA:818
HP:0004207	Abnormal 5th finger morphology	1717	DHCR7	OMIM:270400
HP:0004207	Abnormal 5th finger morphology	10225	CD96	OMIM:211750
HP:0004207	Abnormal 5th finger morphology	6926	TBX3	ORPHA:3138
HP:0004207	Abnormal 5th finger morphology	6926	TBX3	OMIM:181450
HP:0004207	Abnormal 5th finger morphology	7476	WNT7A	OMIM:228930
HP:0004207	Abnormal 5th finger morphology	83871	RAB34	OMIM:620718
HP:0004207	Abnormal 5th finger morphology	84100	ARL6	OMIM:209900
HP:0004207	Abnormal 5th finger morphology	79140	CCDC28B	OMIM:209900
HP:0004207	Abnormal 5th finger morphology	582	BBS1	OMIM:209900
HP:0004207	Abnormal 5th finger morphology	51057	WDPCP	OMIM:217085
HP:0004207	Abnormal 5th finger morphology	3209	HOXA13	ORPHA:2438
HP:0004207	Abnormal 5th finger morphology	3209	HOXA13	OMIM:176305
HP:0004207	Abnormal 5th finger morphology	64093	SMOC1	ORPHA:1106
HP:0004207	Abnormal 5th finger morphology	64093	SMOC1	OMIM:206920
HP:0004207	Abnormal 5th finger morphology	84314	TMEM107	ORPHA:564
HP:0004207	Abnormal 5th finger morphology	84314	TMEM107	OMIM:617563
HP:0004207	Abnormal 5th finger morphology	26123	TCTN3	ORPHA:564
HP:0004207	Abnormal 5th finger morphology	26123	TCTN3	ORPHA:2753
HP:0004207	Abnormal 5th finger morphology	79867	TCTN2	ORPHA:564
HP:0004207	Abnormal 5th finger morphology	79867	TCTN2	OMIM:616654
HP:0004207	Abnormal 5th finger morphology	80776	B9D2	ORPHA:564
HP:0004207	Abnormal 5th finger morphology	80776	B9D2	OMIM:614175
HP:0004207	Abnormal 5th finger morphology	79600	TCTN1	ORPHA:564
HP:0004207	Abnormal 5th finger morphology	57096	RPGRIP1	ORPHA:564
HP:0004207	Abnormal 5th finger morphology	79848	CSPP1	ORPHA:564
HP:0004207	Abnormal 5th finger morphology	80184	CEP290	ORPHA:564
HP:0004207	Abnormal 5th finger morphology	80184	CEP290	OMIM:611134
HP:0004207	Abnormal 5th finger morphology	57545	CC2D2A	ORPHA:564
HP:0004207	Abnormal 5th finger morphology	57545	CC2D2A	ORPHA:1454
HP:0004207	Abnormal 5th finger morphology	57545	CC2D2A	OMIM:612284
HP:0004207	Abnormal 5th finger morphology	79583	TMEM231	ORPHA:564
HP:0004207	Abnormal 5th finger morphology	79770	TXNDC15	ORPHA:564
HP:0004207	Abnormal 5th finger morphology	79770	TXNDC15	OMIM:619879
HP:0004207	Abnormal 5th finger morphology	27077	B9D1	ORPHA:564
HP:0004207	Abnormal 5th finger morphology	54903	MKS1	ORPHA:564
HP:0004207	Abnormal 5th finger morphology	54903	MKS1	OMIM:249000
HP:0004207	Abnormal 5th finger morphology	65062	TMEM237	ORPHA:564
HP:0004207	Abnormal 5th finger morphology	285600	KIAA0825	OMIM:618498
HP:0004207	Abnormal 5th finger morphology	8200	GDF5	OMIM:113100
HP:0004207	Abnormal 5th finger morphology	8200	GDF5	OMIM:200700
HP:0004207	Abnormal 5th finger morphology	8200	GDF5	ORPHA:2098
HP:0004207	Abnormal 5th finger morphology	5147	PDE6D	OMIM:615665
HP:0004207	Abnormal 5th finger morphology	51715	RAB23	ORPHA:65759
HP:0004207	Abnormal 5th finger morphology	51715	RAB23	OMIM:201000
HP:0004207	Abnormal 5th finger morphology	1954	MEGF8	ORPHA:65759
HP:0004207	Abnormal 5th finger morphology	26005	C2CD3	OMIM:615948
HP:0004207	Abnormal 5th finger morphology	26005	C2CD3	ORPHA:434179
HP:0004207	Abnormal 5th finger morphology	26040	SETBP1	OMIM:269150
HP:0004207	Abnormal 5th finger morphology	2121	EVC	ORPHA:952
HP:0004207	Abnormal 5th finger morphology	2121	EVC	OMIM:193530
HP:0004207	Abnormal 5th finger morphology	2121	EVC	OMIM:225500
HP:0004207	Abnormal 5th finger morphology	132884	EVC2	ORPHA:952
HP:0004207	Abnormal 5th finger morphology	132884	EVC2	OMIM:193530
HP:0004207	Abnormal 5th finger morphology	132884	EVC2	OMIM:225500
HP:0004207	Abnormal 5th finger morphology	9851	KIAA0753	ORPHA:474
HP:0004207	Abnormal 5th finger morphology	9851	KIAA0753	OMIM:617127
HP:0004207	Abnormal 5th finger morphology	153241	CEP120	ORPHA:474
HP:0004207	Abnormal 5th finger morphology	51626	DYNC2LI1	ORPHA:474
HP:0004207	Abnormal 5th finger morphology	51626	DYNC2LI1	OMIM:617088
HP:0004207	Abnormal 5th finger morphology	9742	IFT140	ORPHA:474
HP:0004207	Abnormal 5th finger morphology	9742	IFT140	OMIM:266920
HP:0004207	Abnormal 5th finger morphology	57728	WDR19	ORPHA:474
HP:0004207	Abnormal 5th finger morphology	79809	TTC21B	ORPHA:474
HP:0004207	Abnormal 5th finger morphology	64840	PORCN	OMIM:305600
HP:0004207	Abnormal 5th finger morphology	65250	CPLANE1	OMIM:277170
HP:0004207	Abnormal 5th finger morphology	79005	SCNM1	OMIM:620107
HP:0004207	Abnormal 5th finger morphology	6608	SMO	OMIM:241800
HP:0004207	Abnormal 5th finger morphology	658	BMPR1B	ORPHA:2098
HP:0004207	Abnormal 5th finger morphology	54499	TMCO1	OMIM:213980
HP:0004207	Abnormal 5th finger morphology	2736	GLI2	OMIM:610829
HP:0004207	Abnormal 5th finger morphology	51360	MBTPS2	OMIM:308205
HP:0004207	Abnormal 5th finger morphology	51360	MBTPS2	ORPHA:85284
HP:0004207	Abnormal 5th finger morphology	8481	OFD1	OMIM:300209
HP:0004207	Abnormal 5th finger morphology	8481	OFD1	OMIM:300804
HP:0004207	Abnormal 5th finger morphology	8481	OFD1	ORPHA:2750
HP:0004207	Abnormal 5th finger morphology	80210	ARMC9	OMIM:617622
HP:0004207	Abnormal 5th finger morphology	9373	PLAA	ORPHA:521426
HP:0004207	Abnormal 5th finger morphology	2316	FLNA	OMIM:304120
HP:0004207	Abnormal 5th finger morphology	3930	LBR	OMIM:215140
HP:0004207	Abnormal 5th finger morphology	2239	GPC4	ORPHA:373
HP:0004207	Abnormal 5th finger morphology	2239	GPC4	OMIM:312870
HP:0004207	Abnormal 5th finger morphology	2719	GPC3	ORPHA:373
HP:0004207	Abnormal 5th finger morphology	2719	GPC3	OMIM:312870
HP:0004207	Abnormal 5th finger morphology	727857	BHLHA9	ORPHA:3329
HP:0004207	Abnormal 5th finger morphology	51684	SUFU	OMIM:617757
HP:0004207	Abnormal 5th finger morphology	219844	HYLS1	OMIM:236680
HP:0004207	Abnormal 5th finger morphology	219844	HYLS1	ORPHA:2189
HP:0004207	Abnormal 5th finger morphology	6910	TBX5	OMIM:142900
HP:0004207	Abnormal 5th finger morphology	257	ALX3	OMIM:136760
HP:0004207	Abnormal 5th finger morphology	23288	IQCE	OMIM:617642
HP:0004207	Abnormal 5th finger morphology	583	BBS2	OMIM:615981
HP:0004207	Abnormal 5th finger morphology	5567	PRKACB	OMIM:619143
HP:0004207	Abnormal 5th finger morphology	137392	CIBAR1	OMIM:618219
HP:0004207	Abnormal 5th finger morphology	7700	ZNF141	OMIM:615226
HP:0004207	Abnormal 5th finger morphology	7046	TGFBR1	OMIM:609192
HP:0004207	Abnormal 5th finger morphology	166379	BBS12	OMIM:615989
HP:0004207	Abnormal 5th finger morphology	27241	BBS9	OMIM:615986
HP:0004207	Abnormal 5th finger morphology	157657	CFAP418	OMIM:617406
HP:0004207	Abnormal 5th finger morphology	255758	DYNLT2B	OMIM:617405
HP:0004207	Abnormal 5th finger morphology	2263	FGFR2	OMIM:101200
HP:0004207	Abnormal 5th finger morphology	11253	MAN1B1	ORPHA:397941
HP:0004207	Abnormal 5th finger morphology	11253	MAN1B1	OMIM:614202
HP:0004207	Abnormal 5th finger morphology	340533	NEXMIF	OMIM:300912
HP:0004207	Abnormal 5th finger morphology	1139	CHRNA7	ORPHA:199318
HP:0004207	Abnormal 5th finger morphology	1139	CHRNA7	OMIM:612001
HP:0004207	Abnormal 5th finger morphology	2132	EXT2	OMIM:616682
HP:0004207	Abnormal 5th finger morphology	23135	KDM6B	OMIM:618505
HP:0004207	Abnormal 5th finger morphology	1947	EFNB1	ORPHA:1520
HP:0004207	Abnormal 5th finger morphology	1947	EFNB1	OMIM:304110
HP:0004207	Abnormal 5th finger morphology	4010	LMX1B	ORPHA:2614
HP:0004207	Abnormal 5th finger morphology	4010	LMX1B	OMIM:161200
HP:0004207	Abnormal 5th finger morphology	10054	UBA2	OMIM:619959
HP:0004207	Abnormal 5th finger morphology	51126	NAA20	OMIM:619717
HP:0004207	Abnormal 5th finger morphology	2972	BRF1	OMIM:616202
HP:0004207	Abnormal 5th finger morphology	83987	CCDC8	ORPHA:2616
HP:0004207	Abnormal 5th finger morphology	83987	CCDC8	OMIM:614205
HP:0004207	Abnormal 5th finger morphology	5927	KDM5A	OMIM:620820
HP:0004207	Abnormal 5th finger morphology	283120	H19	ORPHA:231140
HP:0004207	Abnormal 5th finger morphology	283120	H19	ORPHA:231144
HP:0004207	Abnormal 5th finger morphology	197131	UBR1	OMIM:243800
HP:0004207	Abnormal 5th finger morphology	5932	RBBP8	OMIM:606744
HP:0004207	Abnormal 5th finger morphology	5932	RBBP8	ORPHA:808
HP:0004207	Abnormal 5th finger morphology	3021	H3-3B	OMIM:619721
HP:0004207	Abnormal 5th finger morphology	4286	MITF	OMIM:617306
HP:0004207	Abnormal 5th finger morphology	23384	SPECC1L	ORPHA:1519
HP:0004207	Abnormal 5th finger morphology	112752	IFT43	ORPHA:1515
HP:0004207	Abnormal 5th finger morphology	51098	IFT52	ORPHA:1515
HP:0004207	Abnormal 5th finger morphology	55764	IFT122	ORPHA:1515
HP:0004207	Abnormal 5th finger morphology	55636	CHD7	ORPHA:138
HP:0004207	Abnormal 5th finger morphology	9723	SEMA3E	ORPHA:138
HP:0004207	Abnormal 5th finger morphology	90	ACVR1	OMIM:135100
HP:0004207	Abnormal 5th finger morphology	3190	HNRNPK	OMIM:616580
HP:0004207	Abnormal 5th finger morphology	25885	POLR1A	OMIM:616462
HP:0004207	Abnormal 5th finger morphology	54880	BCOR	ORPHA:2712
HP:0004207	Abnormal 5th finger morphology	54880	BCOR	ORPHA:568
HP:0004207	Abnormal 5th finger morphology	10606	PAICS	OMIM:619859
HP:0004207	Abnormal 5th finger morphology	1009	CDH11	OMIM:619736
HP:0004207	Abnormal 5th finger morphology	64359	NXN	ORPHA:1507
HP:0004207	Abnormal 5th finger morphology	4920	ROR2	ORPHA:1507
HP:0004207	Abnormal 5th finger morphology	7020	TFAP2A	OMIM:113620
HP:0004207	Abnormal 5th finger morphology	652	BMP4	OMIM:607932
HP:0004207	Abnormal 5th finger morphology	1301	COL11A1	OMIM:228520
HP:0004207	Abnormal 5th finger morphology	1301	COL11A1	OMIM:154780
HP:0004207	Abnormal 5th finger morphology	23327	NEDD4L	OMIM:617201
HP:0004207	Abnormal 5th finger morphology	7291	TWIST1	OMIM:101400
HP:0004207	Abnormal 5th finger morphology	7291	TWIST1	ORPHA:794
HP:0004207	Abnormal 5th finger morphology	2783	GNB2	OMIM:619503
HP:0004207	Abnormal 5th finger morphology	3981	LIG4	ORPHA:235
HP:0004207	Abnormal 5th finger morphology	3981	LIG4	ORPHA:99812
HP:0004207	Abnormal 5th finger morphology	3981	LIG4	OMIM:606593
HP:0004207	Abnormal 5th finger morphology	54888	NSUN2	ORPHA:235
HP:0004207	Abnormal 5th finger morphology	1182	CLCN3	OMIM:619512
HP:0004207	Abnormal 5th finger morphology	85301	COL27A1	OMIM:615155
HP:0004207	Abnormal 5th finger morphology	57680	CHD8	OMIM:615032
HP:0004207	Abnormal 5th finger morphology	5048	PAFAH1B1	ORPHA:217385
HP:0004207	Abnormal 5th finger morphology	5048	PAFAH1B1	ORPHA:531
HP:0004207	Abnormal 5th finger morphology	7531	YWHAE	ORPHA:217385
HP:0004207	Abnormal 5th finger morphology	7531	YWHAE	ORPHA:531
HP:0004207	Abnormal 5th finger morphology	2550	GABBR1	OMIM:620502
HP:0004207	Abnormal 5th finger morphology	8364	H4C3	OMIM:619758
HP:0004207	Abnormal 5th finger morphology	5590	PRKCZ	ORPHA:1606
HP:0004207	Abnormal 5th finger morphology	2563	GABRD	ORPHA:1606
HP:0004207	Abnormal 5th finger morphology	23013	SPEN	ORPHA:1606
HP:0004207	Abnormal 5th finger morphology	8510	MMP23B	ORPHA:1606
HP:0004207	Abnormal 5th finger morphology	7798	LUZP1	ORPHA:1606
HP:0004207	Abnormal 5th finger morphology	6497	SKI	ORPHA:1606
HP:0004207	Abnormal 5th finger morphology	10630	PDPN	ORPHA:1606
HP:0004207	Abnormal 5th finger morphology	3339	HSPG2	ORPHA:1606
HP:0004207	Abnormal 5th finger morphology	10277	UBE4B	ORPHA:1606
HP:0004207	Abnormal 5th finger morphology	8514	KCNAB2	ORPHA:1606
HP:0004207	Abnormal 5th finger morphology	473	RERE	ORPHA:1606
HP:0004207	Abnormal 5th finger morphology	473	RERE	OMIM:616975
HP:0004207	Abnormal 5th finger morphology	63976	PRDM16	ORPHA:1606
HP:0004207	Abnormal 5th finger morphology	54897	CASZ1	ORPHA:1606
HP:0004207	Abnormal 5th finger morphology	6134	RPL10	ORPHA:459070
HP:0004207	Abnormal 5th finger morphology	6134	RPL10	OMIM:300998
HP:0004207	Abnormal 5th finger morphology	4849	CNOT3	OMIM:618672
HP:0004207	Abnormal 5th finger morphology	6942	TCF20	OMIM:618430
HP:0004207	Abnormal 5th finger morphology	641	BLM	OMIM:210900
HP:0004207	Abnormal 5th finger morphology	63895	PIEZO2	ORPHA:376
HP:0004207	Abnormal 5th finger morphology	23314	SATB2	ORPHA:576283
HP:0004207	Abnormal 5th finger morphology	23314	SATB2	ORPHA:251028
HP:0004207	Abnormal 5th finger morphology	23314	SATB2	ORPHA:251019
HP:0004207	Abnormal 5th finger morphology	23483	TGDS	OMIM:616145
HP:0004207	Abnormal 5th finger morphology	23483	TGDS	ORPHA:1388
HP:0004207	Abnormal 5th finger morphology	57479	PRR12	OMIM:619539
HP:0004207	Abnormal 5th finger morphology	25836	NIPBL	OMIM:122470
HP:0004207	Abnormal 5th finger morphology	25836	NIPBL	ORPHA:199
HP:0004207	Abnormal 5th finger morphology	2317	FLNB	OMIM:272460
HP:0004207	Abnormal 5th finger morphology	79087	ALG12	ORPHA:79324
HP:0004207	Abnormal 5th finger morphology	6473	SHOX	ORPHA:240
HP:0004207	Abnormal 5th finger morphology	1387	CREBBP	OMIM:618332
HP:0004207	Abnormal 5th finger morphology	1387	CREBBP	OMIM:180849
HP:0004207	Abnormal 5th finger morphology	1387	CREBBP	ORPHA:592574
HP:0004207	Abnormal 5th finger morphology	26100	WIPI2	OMIM:618453
HP:0004207	Abnormal 5th finger morphology	10533	ATG7	OMIM:619422
HP:0004207	Abnormal 5th finger morphology	8295	TRRAP	OMIM:618454
HP:0004207	Abnormal 5th finger morphology	7227	TRPS1	ORPHA:77258
HP:0004207	Abnormal 5th finger morphology	2261	FGFR3	ORPHA:794
HP:0004207	Abnormal 5th finger morphology	9949	AMMECR1	OMIM:300990
HP:0004207	Abnormal 5th finger morphology	3479	IGF1	ORPHA:73272
HP:0004207	Abnormal 5th finger morphology	3479	IGF1	OMIM:608747
HP:0004207	Abnormal 5th finger morphology	650	BMP2	OMIM:112600
HP:0004207	Abnormal 5th finger morphology	650	BMP2	ORPHA:93396
HP:0004207	Abnormal 5th finger morphology	650	BMP2	OMIM:617877
HP:0004207	Abnormal 5th finger morphology	6477	SIAH1	OMIM:619314
HP:0004207	Abnormal 5th finger morphology	8473	OGT	OMIM:300997
HP:0004207	Abnormal 5th finger morphology	10785	WDR4	OMIM:618347
HP:0004207	Abnormal 5th finger morphology	1798	DPAGT1	OMIM:608093
HP:0004207	Abnormal 5th finger morphology	100151683	RNU4ATAC	ORPHA:353298
HP:0004207	Abnormal 5th finger morphology	100151683	RNU4ATAC	OMIM:226960
HP:0004207	Abnormal 5th finger morphology	100151683	RNU4ATAC	OMIM:616651
HP:0004207	Abnormal 5th finger morphology	100151683	RNU4ATAC	ORPHA:2636
HP:0004207	Abnormal 5th finger morphology	170689	ADAMTS15	OMIM:620545
HP:0004207	Abnormal 5th finger morphology	253738	EBF3	ORPHA:96148
HP:0004207	Abnormal 5th finger morphology	90459	ERI1	OMIM:620663
HP:0004207	Abnormal 5th finger morphology	90459	ERI1	OMIM:620662
HP:0004207	Abnormal 5th finger morphology	4076	CAPRIN1	OMIM:620782
HP:0004207	Abnormal 5th finger morphology	55869	HDAC8	OMIM:300882
HP:0004207	Abnormal 5th finger morphology	55869	HDAC8	ORPHA:199
HP:0004207	Abnormal 5th finger morphology	117581	TWIST2	OMIM:200110
HP:0004207	Abnormal 5th finger morphology	117581	TWIST2	OMIM:209885
HP:0004207	Abnormal 5th finger morphology	23030	KDM4B	OMIM:619320
HP:0004207	Abnormal 5th finger morphology	1725	DHPS	OMIM:618480
HP:0004207	Abnormal 5th finger morphology	55777	MBD5	OMIM:156200
HP:0004207	Abnormal 5th finger morphology	55777	MBD5	ORPHA:228402
HP:0004207	Abnormal 5th finger morphology	5980	REV3L	ORPHA:570
HP:0004207	Abnormal 5th finger morphology	23129	PLXND1	ORPHA:570
HP:0004207	Abnormal 5th finger morphology	4784	NFIX	OMIM:602535
HP:0004207	Abnormal 5th finger morphology	4998	ORC1	OMIM:224690
HP:0004207	Abnormal 5th finger morphology	4998	ORC1	ORPHA:2554
HP:0004207	Abnormal 5th finger morphology	4052	LTBP1	OMIM:619451
HP:0004207	Abnormal 5th finger morphology	8260	NAA10	OMIM:300855
HP:0004207	Abnormal 5th finger morphology	8260	NAA10	ORPHA:568
HP:0004207	Abnormal 5th finger morphology	7468	NSD2	OMIM:619695
HP:0004207	Abnormal 5th finger morphology	23476	BRD4	OMIM:620568
HP:0004207	Abnormal 5th finger morphology	23476	BRD4	ORPHA:199
HP:0004207	Abnormal 5th finger morphology	9496	TBX4	ORPHA:261279
HP:0004207	Abnormal 5th finger morphology	23592	LEMD3	ORPHA:94063
HP:0004207	Abnormal 5th finger morphology	164	AP1G1	OMIM:619467
HP:0004207	Abnormal 5th finger morphology	5283	PIGH	OMIM:618010
HP:0004207	Abnormal 5th finger morphology	6874	TAF4	OMIM:620450
HP:0004207	Abnormal 5th finger morphology	50801	KCNK4	OMIM:618381
HP:0004207	Abnormal 5th finger morphology	4613	MYCN	ORPHA:391641
HP:0004207	Abnormal 5th finger morphology	57003	CCDC47	OMIM:618268
HP:0004207	Abnormal 5th finger morphology	8812	CCNK	OMIM:618147
HP:0004207	Abnormal 5th finger morphology	29895	MYL11	OMIM:619110
HP:0004207	Abnormal 5th finger morphology	94005	PIGS	OMIM:618143
HP:0004207	Abnormal 5th finger morphology	145173	B3GLCT	OMIM:261540
HP:0004207	Abnormal 5th finger morphology	145173	B3GLCT	ORPHA:709
HP:0004207	Abnormal 5th finger morphology	2033	EP300	OMIM:180849
HP:0004207	Abnormal 5th finger morphology	92002	CCNQ	OMIM:300707
HP:0004207	Abnormal 5th finger morphology	92002	CCNQ	ORPHA:140952
HP:0004207	Abnormal 5th finger morphology	285590	SH3PXD2B	ORPHA:137834
HP:0004207	Abnormal 5th finger morphology	80036	TRPM3	OMIM:620224
HP:0004207	Abnormal 5th finger morphology	1836	SLC26A2	ORPHA:628
HP:0004207	Abnormal 5th finger morphology	207	AKT1	ORPHA:744
HP:0004207	Abnormal 5th finger morphology	2887	GRB10	ORPHA:96182
HP:0004207	Abnormal 5th finger morphology	1457	CSNK2A1	OMIM:617062
HP:0004207	Abnormal 5th finger morphology	7204	TRIO	OMIM:617061
HP:0004207	Abnormal 5th finger morphology	7204	TRIO	ORPHA:476126
HP:0004207	Abnormal 5th finger morphology	2077	ERF	OMIM:617180
HP:0004207	Abnormal 5th finger morphology	28952	CCDC22	OMIM:300963
HP:0004207	Abnormal 5th finger morphology	90416	CCDC32	OMIM:619123
HP:0004207	Abnormal 5th finger morphology	8450	CUL4B	ORPHA:85293
HP:0004207	Abnormal 5th finger morphology	55717	WDR11	OMIM:620237
HP:0004207	Abnormal 5th finger morphology	6299	SALL1	ORPHA:857
HP:0004207	Abnormal 5th finger morphology	51339	DACT1	ORPHA:857
HP:0004207	Abnormal 5th finger morphology	118924	FRA10AC1	OMIM:620113
HP:0004207	Abnormal 5th finger morphology	22995	CEP152	OMIM:613823
HP:0004207	Abnormal 5th finger morphology	22995	CEP152	ORPHA:808
HP:0004207	Abnormal 5th finger morphology	3549	IHH	OMIM:112500
HP:0004207	Abnormal 5th finger morphology	3549	IHH	ORPHA:93388
HP:0004207	Abnormal 5th finger morphology	3090	HIC1	ORPHA:531
HP:0004207	Abnormal 5th finger morphology	10436	EMG1	OMIM:211180
HP:0004207	Abnormal 5th finger morphology	10436	EMG1	ORPHA:1270
HP:0004207	Abnormal 5th finger morphology	23387	SIK3	OMIM:618162
HP:0004207	Abnormal 5th finger morphology	10084	PQBP1	OMIM:309500
HP:0004207	Abnormal 5th finger morphology	5745	PTH1R	OMIM:156400
HP:0004207	Abnormal 5th finger morphology	89970	RSPRY1	ORPHA:457395
HP:0004207	Abnormal 5th finger morphology	9487	PIGL	OMIM:280000
HP:0004207	Abnormal 5th finger morphology	22800	RRAS2	ORPHA:648
HP:0004207	Abnormal 5th finger morphology	867	CBL	ORPHA:648
HP:0004207	Abnormal 5th finger morphology	8216	LZTR1	ORPHA:648
HP:0004207	Abnormal 5th finger morphology	6016	RIT1	ORPHA:648
HP:0004207	Abnormal 5th finger morphology	6237	RRAS	ORPHA:648
HP:0004207	Abnormal 5th finger morphology	5894	RAF1	ORPHA:648
HP:0004207	Abnormal 5th finger morphology	22808	MRAS	ORPHA:648
HP:0004207	Abnormal 5th finger morphology	3845	KRAS	ORPHA:648
HP:0004207	Abnormal 5th finger morphology	200734	SPRED2	ORPHA:648
HP:0004207	Abnormal 5th finger morphology	4893	NRAS	ORPHA:648
HP:0004207	Abnormal 5th finger morphology	6654	SOS1	ORPHA:648
HP:0004207	Abnormal 5th finger morphology	6655	SOS2	ORPHA:648
HP:0004207	Abnormal 5th finger morphology	5781	PTPN11	ORPHA:648
HP:0004207	Abnormal 5th finger morphology	5922	RASA2	ORPHA:648
HP:0004207	Abnormal 5th finger morphology	23522	KAT6B	ORPHA:3047
HP:0004207	Abnormal 5th finger morphology	6913	TBX15	OMIM:260660
HP:0004207	Abnormal 5th finger morphology	79023	NUP37	OMIM:618179
HP:0004207	Abnormal 5th finger morphology	375056	MIA3	OMIM:619269
HP:0004207	Abnormal 5th finger morphology	27161	AGO2	OMIM:619149
HP:0004207	Abnormal 5th finger morphology	221927	BRAT1	OMIM:618056
HP:0004207	Abnormal 5th finger morphology	8823	FGF16	OMIM:309630
HP:0004207	Abnormal 5th finger morphology	161742	SPRED1	ORPHA:137605
HP:0004207	Abnormal 5th finger morphology	7337	UBE3A	ORPHA:238446
HP:0004207	Abnormal 5th finger morphology	58499	ZNF462	ORPHA:502430
HP:0004207	Abnormal 5th finger morphology	58499	ZNF462	OMIM:618619
HP:0004207	Abnormal 5th finger morphology	1832	DSP	ORPHA:158687
HP:0004207	Abnormal 5th finger morphology	1832	DSP	OMIM:609638
HP:0004207	Abnormal 5th finger morphology	3728	JUP	ORPHA:158687
HP:0004207	Abnormal 5th finger morphology	23241	PACS2	OMIM:618067
HP:0004207	Abnormal 5th finger morphology	26128	KIFBP	OMIM:609460
HP:0004207	Abnormal 5th finger morphology	23556	PIGN	ORPHA:2059
HP:0004207	Abnormal 5th finger morphology	5885	RAD21	OMIM:614701
HP:0004207	Abnormal 5th finger morphology	5885	RAD21	ORPHA:199
HP:0004207	Abnormal 5th finger morphology	673	BRAF	OMIM:115150
HP:0004207	Abnormal 5th finger morphology	7518	XRCC4	ORPHA:99812
HP:0004207	Abnormal 5th finger morphology	8854	ALDH1A2	OMIM:620025
HP:0004207	Abnormal 5th finger morphology	10274	STAG1	ORPHA:502434
HP:0004207	Abnormal 5th finger morphology	9241	NOG	ORPHA:3250
HP:0004207	Abnormal 5th finger morphology	9241	NOG	OMIM:186500
HP:0004207	Abnormal 5th finger morphology	3239	HOXD13	OMIM:186000
HP:0004207	Abnormal 5th finger morphology	3239	HOXD13	ORPHA:93406
HP:0004207	Abnormal 5th finger morphology	613	BCR	ORPHA:261330
HP:0004207	Abnormal 5th finger morphology	1399	CRKL	ORPHA:261330
HP:0004207	Abnormal 5th finger morphology	5594	MAPK1	ORPHA:261330
HP:0004207	Abnormal 5th finger morphology	89910	UBE3B	OMIM:244450
HP:0004207	Abnormal 5th finger morphology	2314	FLII	ORPHA:819
HP:0004207	Abnormal 5th finger morphology	23096	IQSEC2	ORPHA:819
HP:0004207	Abnormal 5th finger morphology	10743	RAI1	ORPHA:819
HP:0004207	Abnormal 5th finger morphology	10743	RAI1	OMIM:182290
HP:0004207	Abnormal 5th finger morphology	10522	DEAF1	ORPHA:819
HP:0004207	Abnormal 5th finger morphology	150468	CKAP2L	ORPHA:3255
HP:0004207	Abnormal 5th finger morphology	7175	TPR	OMIM:620393
HP:0004207	Abnormal 5th finger morphology	6595	SMARCA2	OMIM:619293
HP:0004207	Abnormal 5th finger morphology	672	BRCA1	ORPHA:84
HP:0004207	Abnormal 5th finger morphology	10459	MAD2L2	ORPHA:84
HP:0004207	Abnormal 5th finger morphology	7516	XRCC2	ORPHA:84
HP:0004207	Abnormal 5th finger morphology	29089	UBE2T	ORPHA:84
HP:0004207	Abnormal 5th finger morphology	675	BRCA2	ORPHA:84
HP:0004207	Abnormal 5th finger morphology	55120	FANCL	ORPHA:84
HP:0004207	Abnormal 5th finger morphology	2177	FANCD2	ORPHA:84
HP:0004207	Abnormal 5th finger morphology	2175	FANCA	ORPHA:84
HP:0004207	Abnormal 5th finger morphology	2187	FANCB	ORPHA:84
HP:0004207	Abnormal 5th finger morphology	2176	FANCC	ORPHA:84
HP:0004207	Abnormal 5th finger morphology	2178	FANCE	ORPHA:84
HP:0004207	Abnormal 5th finger morphology	2188	FANCF	ORPHA:84
HP:0004207	Abnormal 5th finger morphology	2189	FANCG	ORPHA:84
HP:0004207	Abnormal 5th finger morphology	5888	RAD51	ORPHA:84
HP:0004207	Abnormal 5th finger morphology	5889	RAD51C	ORPHA:84
HP:0004207	Abnormal 5th finger morphology	55159	RFWD3	ORPHA:84
HP:0004207	Abnormal 5th finger morphology	83990	BRIP1	ORPHA:84
HP:0004207	Abnormal 5th finger morphology	57697	FANCM	ORPHA:84
HP:0004207	Abnormal 5th finger morphology	79728	PALB2	ORPHA:84
HP:0004207	Abnormal 5th finger morphology	84464	SLX4	ORPHA:84
HP:0004207	Abnormal 5th finger morphology	2072	ERCC4	ORPHA:84
HP:0004207	Abnormal 5th finger morphology	55215	FANCI	ORPHA:84
HP:0004207	Abnormal 5th finger morphology	546	ATRX	ORPHA:847
HP:0004207	Abnormal 5th finger morphology	84823	LMNB2	OMIM:619180
HP:0004207	Abnormal 5th finger morphology	9184	BUB3	ORPHA:1052
HP:0004207	Abnormal 5th finger morphology	699	BUB1	ORPHA:1052
HP:0004207	Abnormal 5th finger morphology	699	BUB1	OMIM:620183
HP:0004207	Abnormal 5th finger morphology	9702	CEP57	ORPHA:1052
HP:0004207	Abnormal 5th finger morphology	9702	CEP57	OMIM:614114
HP:0004207	Abnormal 5th finger morphology	9319	TRIP13	ORPHA:1052
HP:0004207	Abnormal 5th finger morphology	701	BUB1B	ORPHA:1052
HP:0004207	Abnormal 5th finger morphology	54476	RNF216	ORPHA:1173
HP:0004207	Abnormal 5th finger morphology	10908	PNPLA6	ORPHA:1173
HP:0004207	Abnormal 5th finger morphology	23036	ZNF292	OMIM:619188
HP:0004207	Abnormal 5th finger morphology	51199	NIN	OMIM:614851
HP:0004207	Abnormal 5th finger morphology	51199	NIN	ORPHA:319675
HP:0004207	Abnormal 5th finger morphology	79813	EHMT1	OMIM:610253
HP:0004207	Abnormal 5th finger morphology	25942	SIN3A	OMIM:613406
HP:0004207	Abnormal 5th finger morphology	4953	ODC1	OMIM:619075
HP:0004207	Abnormal 5th finger morphology	4953	ODC1	ORPHA:544488
HP:0004207	Abnormal 5th finger morphology	1857	DVL3	ORPHA:3107
HP:0004207	Abnormal 5th finger morphology	7474	WNT5A	ORPHA:3107
HP:0004207	Abnormal 5th finger morphology	1855	DVL1	ORPHA:3107
HP:0004207	Abnormal 5th finger morphology	2535	FZD2	ORPHA:3107
HP:0004207	Abnormal 5th finger morphology	2535	FZD2	OMIM:164745
HP:0004207	Abnormal 5th finger morphology	6804	STX1A	ORPHA:904
HP:0004207	Abnormal 5th finger morphology	7461	CLIP2	ORPHA:904
HP:0004207	Abnormal 5th finger morphology	84277	DNAJC30	ORPHA:904
HP:0004207	Abnormal 5th finger morphology	8468	FKBP6	ORPHA:904
HP:0004207	Abnormal 5th finger morphology	5982	RFC2	ORPHA:904
HP:0004207	Abnormal 5th finger morphology	2969	GTF2I	ORPHA:904
HP:0004207	Abnormal 5th finger morphology	3984	LIMK1	ORPHA:904
HP:0004207	Abnormal 5th finger morphology	9569	GTF2IRD1	ORPHA:904
HP:0004207	Abnormal 5th finger morphology	155382	VPS37D	ORPHA:904
HP:0004207	Abnormal 5th finger morphology	155368	METTL27	ORPHA:904
HP:0004207	Abnormal 5th finger morphology	114049	BUD23	ORPHA:904
HP:0004207	Abnormal 5th finger morphology	7458	EIF4H	ORPHA:904
HP:0004207	Abnormal 5th finger morphology	84163	GTF2IRD2	ORPHA:904
HP:0004207	Abnormal 5th finger morphology	26608	TBL2	ORPHA:904
HP:0004207	Abnormal 5th finger morphology	653361	NCF1	ORPHA:904
HP:0004207	Abnormal 5th finger morphology	135886	TMEM270	ORPHA:904
HP:0004207	Abnormal 5th finger morphology	9031	BAZ1B	ORPHA:904
HP:0004207	Abnormal 5th finger morphology	2006	ELN	ORPHA:904
HP:0004207	Abnormal 5th finger morphology	2006	ELN	OMIM:194050
HP:0004207	Abnormal 5th finger morphology	2122	MECOM	ORPHA:71289
HP:0004207	Abnormal 5th finger morphology	3207	HOXA11	ORPHA:71289
HP:0004207	Abnormal 5th finger morphology	3207	HOXA11	OMIM:605432
HP:0004207	Abnormal 5th finger morphology	81031	SLC2A10	ORPHA:3342
HP:0004207	Abnormal 5th finger morphology	55165	CEP55	OMIM:236500
HP:0004207	Abnormal 5th finger morphology	157570	ESCO2	ORPHA:3103
HP:0004207	Abnormal 5th finger morphology	84992	PIGY	OMIM:616809
HP:0004207	Abnormal 5th finger morphology	10236	HNRNPR	OMIM:620073
HP:0004207	Abnormal 5th finger morphology	4094	MAF	ORPHA:1272
HP:0004207	Abnormal 5th finger morphology	6628	SNRPB	ORPHA:1393
HP:0004207	Abnormal 5th finger morphology	6628	SNRPB	OMIM:117650
HP:0004207	Abnormal 5th finger morphology	4089	SMAD4	OMIM:139210
HP:0004207	Abnormal 5th finger morphology	9555	MACROH2A1	ORPHA:1275
HP:0004207	Abnormal 5th finger morphology	5307	PITX1	ORPHA:1275
HP:0004207	Abnormal 5th finger morphology	5422	POLA1	ORPHA:163976
HP:0004207	Abnormal 5th finger morphology	5422	POLA1	OMIM:301030
HP:0004207	Abnormal 5th finger morphology	55906	ZC4H2	ORPHA:3454
HP:0004207	Abnormal 5th finger morphology	51085	MLXIPL	OMIM:194050
HP:0004207	Abnormal 5th finger morphology	10430	TMEM147	OMIM:620075
HP:0004207	Abnormal 5th finger morphology	3187	HNRNPH1	OMIM:620083
HP:0004207	Abnormal 5th finger morphology	1482	NKX2-5	OMIM:187500
HP:0004207	Abnormal 5th finger morphology	1482	NKX2-5	ORPHA:3303
HP:0004207	Abnormal 5th finger morphology	6899	TBX1	OMIM:187500
HP:0004207	Abnormal 5th finger morphology	6899	TBX1	ORPHA:3303
HP:0004207	Abnormal 5th finger morphology	2626	GATA4	OMIM:187500
HP:0004207	Abnormal 5th finger morphology	2626	GATA4	ORPHA:3303
HP:0004207	Abnormal 5th finger morphology	23414	ZFPM2	OMIM:187500
HP:0004207	Abnormal 5th finger morphology	23414	ZFPM2	ORPHA:3303
HP:0004207	Abnormal 5th finger morphology	182	JAG1	OMIM:187500
HP:0004207	Abnormal 5th finger morphology	182	JAG1	ORPHA:3303
HP:0004207	Abnormal 5th finger morphology	2627	GATA6	OMIM:187500
HP:0004207	Abnormal 5th finger morphology	2627	GATA6	ORPHA:3303
HP:0004207	Abnormal 5th finger morphology	545	ATR	ORPHA:808
HP:0004207	Abnormal 5th finger morphology	545	ATR	OMIM:210600
HP:0004207	Abnormal 5th finger morphology	1062	CENPE	ORPHA:808
HP:0004207	Abnormal 5th finger morphology	5116	PCNT	ORPHA:808
HP:0004207	Abnormal 5th finger morphology	5116	PCNT	OMIM:210720
HP:0004207	Abnormal 5th finger morphology	5116	PCNT	ORPHA:2637
HP:0004207	Abnormal 5th finger morphology	79902	NUP85	ORPHA:808
HP:0004207	Abnormal 5th finger morphology	84126	ATRIP	ORPHA:808
HP:0004207	Abnormal 5th finger morphology	10293	TRAIP	ORPHA:808
HP:0004207	Abnormal 5th finger morphology	1763	DNA2	ORPHA:808
HP:0004207	Abnormal 5th finger morphology	10733	PLK4	ORPHA:808
HP:0004207	Abnormal 5th finger morphology	9939	RBM8A	ORPHA:3320
HP:0004207	Abnormal 5th finger morphology	9939	RBM8A	OMIM:274000
HP:0004207	Abnormal 5th finger morphology	55023	PHIP	ORPHA:589905
HP:0004207	Abnormal 5th finger morphology	55023	PHIP	OMIM:617991
HP:0004207	Abnormal 5th finger morphology	8626	TP63	ORPHA:69085
HP:0004207	Abnormal 5th finger morphology	29123	ANKRD11	OMIM:148050
HP:0004207	Abnormal 5th finger morphology	2703	GJA8	OMIM:612474
HP:0004207	Abnormal 5th finger morphology	2702	GJA5	OMIM:612474
HP:0004207	Abnormal 5th finger morphology	2702	GJA5	ORPHA:3303
HP:0004207	Abnormal 5th finger morphology	3897	L1CAM	ORPHA:2466
HP:0004207	Abnormal 5th finger morphology	4208	MEF2C	OMIM:613443
HP:0004207	Abnormal 5th finger morphology	129880	BBS5	OMIM:615983
HP:0004207	Abnormal 5th finger morphology	55690	PACS1	ORPHA:329224
HP:0004207	Abnormal 5th finger morphology	9230	RAB11B	OMIM:617807
HP:0004207	Abnormal 5th finger morphology	84181	CHD6	ORPHA:2108
HP:0004207	Abnormal 5th finger morphology	22856	CHSY1	ORPHA:363417
HP:0004207	Abnormal 5th finger morphology	51621	KLF13	OMIM:612001
HP:0004207	Abnormal 5th finger morphology	23394	ADNP	OMIM:615873
HP:0004207	Abnormal 5th finger morphology	9759	HDAC4	ORPHA:1001
HP:0004207	Abnormal 5th finger morphology	11133	KPTN	OMIM:615637
HP:0004207	Abnormal 5th finger morphology	11133	KPTN	ORPHA:397612
HP:0004207	Abnormal 5th finger morphology	85358	SHANK3	OMIM:606232
HP:0004207	Abnormal 5th finger morphology	23028	KDM1A	OMIM:616728
HP:0004207	Abnormal 5th finger morphology	23028	KDM1A	ORPHA:477993
HP:0004207	Abnormal 5th finger morphology	137814	NKX2-6	ORPHA:3303
HP:0004207	Abnormal 5th finger morphology	3791	KDR	ORPHA:3303
HP:0004207	Abnormal 5th finger morphology	2657	GDF1	ORPHA:3303
HP:0004207	Abnormal 5th finger morphology	140628	GATA5	ORPHA:3303
HP:0004207	Abnormal 5th finger morphology	2324	FLT4	ORPHA:3303
HP:0004207	Abnormal 5th finger morphology	10370	CITED2	ORPHA:3303
HP:0004207	Abnormal 5th finger morphology	2334	AFF2	ORPHA:100973
HP:0004207	Abnormal 5th finger morphology	10847	SRCAP	OMIM:136140
HP:0004207	Abnormal 5th finger morphology	10982	MAPRE2	OMIM:616734
HP:0004207	Abnormal 5th finger morphology	4131	MAP1B	OMIM:618918
HP:0004207	Abnormal 5th finger morphology	54808	DYM	OMIM:223800
HP:0004207	Abnormal 5th finger morphology	84679	SLC9A7	OMIM:301024
HP:0004207	Abnormal 5th finger morphology	10735	STAG2	OMIM:301022
HP:0004207	Abnormal 5th finger morphology	10265	IRX5	OMIM:611174
HP:0004207	Abnormal 5th finger morphology	5925	RB1	ORPHA:1587
HP:0004207	Abnormal 5th finger morphology	7874	USP7	OMIM:616863
HP:0004207	Abnormal 5th finger morphology	3759	KCNJ2	OMIM:170390
HP:0004207	Abnormal 5th finger morphology	81620	CDT1	ORPHA:2554
HP:0004207	Abnormal 5th finger morphology	5000	ORC4	ORPHA:2554
HP:0004207	Abnormal 5th finger morphology	23594	ORC6	ORPHA:2554
HP:0004207	Abnormal 5th finger morphology	8318	CDC45	ORPHA:2554
HP:0004207	Abnormal 5th finger morphology	990	CDC6	ORPHA:2554
HP:0004207	Abnormal 5th finger morphology	51053	GMNN	ORPHA:2554
HP:0004207	Abnormal 5th finger morphology	25	ABL1	OMIM:617602
HP:0004207	Abnormal 5th finger morphology	83696	TRAPPC9	ORPHA:352530
HP:0004207	Abnormal 5th finger morphology	860	RUNX2	ORPHA:1452
HP:0004207	Abnormal 5th finger morphology	29980	DONSON	OMIM:617604
HP:0004207	Abnormal 5th finger morphology	6638	SNRPN	ORPHA:177907
HP:0004207	Abnormal 5th finger morphology	8243	SMC1A	ORPHA:199
HP:0004207	Abnormal 5th finger morphology	6878	TAF6	ORPHA:199
HP:0004207	Abnormal 5th finger morphology	157680	VPS13B	ORPHA:193
HP:0004207	Abnormal 5th finger morphology	22931	RAB18	OMIM:614222
HP:0004207	Abnormal 5th finger morphology	9894	TELO2	ORPHA:488642
HP:0004207	Abnormal 5th finger morphology	80232	WDR26	OMIM:617616
HP:0004207	Abnormal 5th finger morphology	490	ATP2B1	OMIM:619910
HP:0004207	Abnormal 5th finger morphology	8405	SPOP	OMIM:618828
HP:0004207	Abnormal 5th finger morphology	8405	SPOP	OMIM:618829
HP:0004207	Abnormal 5th finger morphology	284252	KCTD1	OMIM:181270
HP:0004207	Abnormal 5th finger morphology	54870	QRICH1	OMIM:617982
HP:0004207	Abnormal 5th finger morphology	139285	AMER1	OMIM:300373
HP:0004207	Abnormal 5th finger morphology	4841	NONO	ORPHA:466791
HP:0004207	Abnormal 5th finger morphology	1663	DDX11	OMIM:613398
HP:0004207	Abnormal 5th finger morphology	51317	PHF21A	OMIM:618725
HP:0004207	Abnormal 5th finger morphology	2186	BPTF	OMIM:617755
HP:0004207	Abnormal 5th finger morphology	59341	TRPV4	ORPHA:2635
HP:0004207	Abnormal 5th finger morphology	64131	XYLT1	ORPHA:1425
HP:0004207	Abnormal 5th finger morphology	124583	CANT1	ORPHA:1425
HP:0004207	Abnormal 5th finger morphology	55790	CSGALNACT1	ORPHA:1425
HP:0004207	Abnormal 5th finger morphology	4204	MECP2	OMIM:300260
HP:0004207	Abnormal 5th finger morphology	55553	SOX6	OMIM:618971
HP:0004207	Abnormal 5th finger morphology	84148	KAT8	OMIM:618974
HP:0004207	Abnormal 5th finger morphology	7021	TFAP2B	ORPHA:46627
HP:0004207	Abnormal 5th finger morphology	9698	PUM1	OMIM:620719
HP:0004207	Abnormal 5th finger morphology	1280	COL2A1	OMIM:271700
HP:0004207	Abnormal 5th finger morphology	4882	NPR2	OMIM:615923
HP:0004207	Abnormal 5th finger morphology	92482	BBIP1	ORPHA:110
HP:0004207	Abnormal 5th finger morphology	11020	IFT27	ORPHA:110
HP:0004207	Abnormal 5th finger morphology	49855	SCAPER	ORPHA:110
HP:0004207	Abnormal 5th finger morphology	4867	NPHP1	ORPHA:110
HP:0004207	Abnormal 5th finger morphology	132320	SCLT1	ORPHA:110
HP:0004207	Abnormal 5th finger morphology	84984	CEP19	ORPHA:110
HP:0004207	Abnormal 5th finger morphology	22954	TRIM32	ORPHA:110
HP:0004207	Abnormal 5th finger morphology	79738	BBS10	ORPHA:110
HP:0004207	Abnormal 5th finger morphology	123016	TTC8	ORPHA:110
HP:0004207	Abnormal 5th finger morphology	585	BBS4	ORPHA:110
HP:0004207	Abnormal 5th finger morphology	55212	BBS7	ORPHA:110
HP:0004207	Abnormal 5th finger morphology	10806	SDCCAG8	ORPHA:110
HP:0004207	Abnormal 5th finger morphology	80173	IFT74	ORPHA:110
HP:0004207	Abnormal 5th finger morphology	9469	CHST3	OMIM:143095
HP:0004207	Abnormal 5th finger morphology	5518	PPP2R1A	OMIM:616362
HP:0004207	Abnormal 5th finger morphology	55315	SLC29A3	OMIM:602782
HP:0004207	Abnormal 5th finger morphology	51114	ZDHHC9	OMIM:300799
HP:0004207	Abnormal 5th finger morphology	10664	CTCF	ORPHA:363611
HP:0004207	Abnormal 5th finger morphology	26053	AUTS2	ORPHA:352490
HP:0004207	Abnormal 5th finger morphology	219854	TMEM218	OMIM:619562
HP:0004207	Abnormal 5th finger morphology	23291	FBXW11	OMIM:618914
HP:0004207	Abnormal 5th finger morphology	79912	PYROXD1	OMIM:617258
HP:0004207	Abnormal 5th finger morphology	9757	KMT2B	OMIM:619934
HP:0004207	Abnormal 5th finger morphology	2697	GJA1	OMIM:164200
HP:0004207	Abnormal 5th finger morphology	3720	JARID2	OMIM:620098
HP:0004207	Abnormal 5th finger morphology	10765	KDM5B	OMIM:618109
HP:0004207	Abnormal 5th finger morphology	3977	LIFR	OMIM:601559
HP:0004207	Abnormal 5th finger morphology	10093	ARPC4	OMIM:620141
HP:0004207	Abnormal 5th finger morphology	56992	KIF15	ORPHA:261323
HP:0004207	Abnormal 5th finger morphology	22827	PUF60	ORPHA:508498
HP:0004207	Abnormal 5th finger morphology	22827	PUF60	ORPHA:508488
HP:0004207	Abnormal 5th finger morphology	22827	PUF60	OMIM:615583
HP:0004207	Abnormal 5th finger morphology	2245	FGD1	OMIM:305400
HP:0004207	Abnormal 5th finger morphology	10262	SF3B4	OMIM:154400
HP:0004207	Abnormal 5th finger morphology	23162	MAPK8IP3	OMIM:618443
HP:0004207	Abnormal 5th finger morphology	5648	MASP1	OMIM:257920
HP:0004207	Abnormal 5th finger morphology	6597	SMARCA4	ORPHA:1465
HP:0004207	Abnormal 5th finger morphology	6597	SMARCA4	OMIM:614609
HP:0004207	Abnormal 5th finger morphology	6598	SMARCB1	ORPHA:1465
HP:0004207	Abnormal 5th finger morphology	6659	SOX4	ORPHA:1465
HP:0004207	Abnormal 5th finger morphology	8289	ARID1A	ORPHA:1465
HP:0004207	Abnormal 5th finger morphology	5977	DPF2	ORPHA:1465
HP:0004207	Abnormal 5th finger morphology	6601	SMARCC2	ORPHA:1465
HP:0004207	Abnormal 5th finger morphology	6602	SMARCD1	ORPHA:1465
HP:0004207	Abnormal 5th finger morphology	57492	ARID1B	ORPHA:1465
HP:0004207	Abnormal 5th finger morphology	196528	ARID2	ORPHA:1465
HP:0004207	Abnormal 5th finger morphology	6605	SMARCE1	ORPHA:1465
HP:0004207	Abnormal 5th finger morphology	6664	SOX11	ORPHA:1465
HP:0004207	Abnormal 5th finger morphology	5879	RAC1	ORPHA:500159
HP:0004207	Abnormal 5th finger morphology	91461	PKDCC	OMIM:618821
HP:0004207	Abnormal 5th finger morphology	9820	CUL7	OMIM:273750
HP:0004207	Abnormal 5th finger morphology	23363	OBSL1	OMIM:612921
HP:0004207	Abnormal 5th finger morphology	4848	CNOT2	OMIM:618608
HP:0004207	Abnormal 5th finger morphology	2778	GNAS	ORPHA:79445
HP:0004207	Abnormal 5th finger morphology	526	ATP6V1B2	ORPHA:79500
HP:0004207	Abnormal 5th finger morphology	57465	TBC1D24	ORPHA:79500
HP:0004207	Abnormal 5th finger morphology	57465	TBC1D24	OMIM:220500
HP:0004207	Abnormal 5th finger morphology	5286	PIK3C2A	ORPHA:557003
HP:0004207	Abnormal 5th finger morphology	1327	COX4I1	OMIM:619060
HP:0004207	Abnormal 5th finger morphology	7750	ZMYM2	OMIM:619522
HP:0004207	Abnormal 5th finger morphology	4212	MEIS2	OMIM:600987
HP:0004207	Abnormal 5th finger morphology	9775	EIF4A3	OMIM:268305
HP:0004207	Abnormal 5th finger morphology	7403	KDM6A	OMIM:300867
HP:0004207	Abnormal 5th finger morphology	7403	KDM6A	ORPHA:2322
HP:0004207	Abnormal 5th finger morphology	7403	KDM6A	OMIM:147920
HP:0004207	Abnormal 5th finger morphology	3481	IGF2	ORPHA:397590
HP:0004207	Abnormal 5th finger morphology	1028	CDKN1C	ORPHA:397590
HP:0004207	Abnormal 5th finger morphology	5324	PLAG1	ORPHA:397590
HP:0004207	Abnormal 5th finger morphology	8091	HMGA2	ORPHA:397590
HP:0004207	Abnormal 5th finger morphology	8085	KMT2D	ORPHA:2322
HP:0004207	Abnormal 5th finger morphology	8085	KMT2D	OMIM:147920
HP:0004207	Abnormal 5th finger morphology	9126	SMC3	OMIM:610759
HP:0004207	Abnormal 5th finger morphology	4297	KMT2A	OMIM:605130
HP:0009295	Short middle phalanx of the 4th finger	9241	NOG	OMIM:186500
HP:0009295	Short middle phalanx of the 4th finger	8200	GDF5	OMIM:615072
HP:0009295	Short middle phalanx of the 4th finger	2122	MECOM	OMIM:616738
HP:0004268	Osteoarthritis of the small joints of the hand	4088	SMAD3	ORPHA:284984
HP:0004268	Osteoarthritis of the small joints of the hand	4148	MATN3	ORPHA:93311
HP:0004268	Osteoarthritis of the small joints of the hand	59341	TRPV4	ORPHA:85169
HP:0004268	Osteoarthritis of the small joints of the hand	54829	ASPN	OMIM:607850
HP:0004268	Osteoarthritis of the small joints of the hand	6399	TRAPPC2	ORPHA:93284
HP:0004267	Narrow small joints of the hand	8838	CCN6	ORPHA:1159
HP:0006261	Abnormal phalangeal joint morphology of the hand	64093	SMOC1	OMIM:206920
HP:0006261	Abnormal phalangeal joint morphology of the hand	64093	SMOC1	ORPHA:1106
HP:0006261	Abnormal phalangeal joint morphology of the hand	91179	SCARF2	OMIM:600920
HP:0006261	Abnormal phalangeal joint morphology of the hand	8838	CCN6	ORPHA:1159
HP:0006261	Abnormal phalangeal joint morphology of the hand	4088	SMAD3	ORPHA:284984
HP:0006261	Abnormal phalangeal joint morphology of the hand	4148	MATN3	ORPHA:93311
HP:0006261	Abnormal phalangeal joint morphology of the hand	59341	TRPV4	ORPHA:85169
HP:0006261	Abnormal phalangeal joint morphology of the hand	55628	ZNF407	OMIM:619557
HP:0006261	Abnormal phalangeal joint morphology of the hand	23219	FBXO28	OMIM:619777
HP:0006261	Abnormal phalangeal joint morphology of the hand	84265	POLR3GL	OMIM:619234
HP:0006261	Abnormal phalangeal joint morphology of the hand	10297	APC2	ORPHA:821
HP:0006261	Abnormal phalangeal joint morphology of the hand	80204	FBXO11	OMIM:618089
HP:0006261	Abnormal phalangeal joint morphology of the hand	825	CAPN3	ORPHA:267
HP:0006261	Abnormal phalangeal joint morphology of the hand	113179	ADAT3	ORPHA:363528
HP:0006261	Abnormal phalangeal joint morphology of the hand	51305	KCNK9	ORPHA:166108
HP:0006261	Abnormal phalangeal joint morphology of the hand	22880	MORC2	ORPHA:466768
HP:0006261	Abnormal phalangeal joint morphology of the hand	170689	ADAMTS15	OMIM:620545
HP:0006261	Abnormal phalangeal joint morphology of the hand	6329	SCN4A	OMIM:620351
HP:0006261	Abnormal phalangeal joint morphology of the hand	57167	SALL4	OMIM:147750
HP:0006261	Abnormal phalangeal joint morphology of the hand	54332	GDAP1	ORPHA:99948
HP:0006261	Abnormal phalangeal joint morphology of the hand	2254	FGF9	OMIM:612961
HP:0006261	Abnormal phalangeal joint morphology of the hand	79158	GNPTAB	OMIM:252600
HP:0006261	Abnormal phalangeal joint morphology of the hand	7994	KAT6A	OMIM:616268
HP:0006261	Abnormal phalangeal joint morphology of the hand	7466	WFS1	OMIM:222300
HP:0006261	Abnormal phalangeal joint morphology of the hand	54829	ASPN	OMIM:607850
HP:0006261	Abnormal phalangeal joint morphology of the hand	6399	TRAPPC2	ORPHA:93284
HP:0006261	Abnormal phalangeal joint morphology of the hand	1302	COL11A2	OMIM:215150
HP:0006261	Abnormal phalangeal joint morphology of the hand	7703	PCGF2	OMIM:618371
HP:0006261	Abnormal phalangeal joint morphology of the hand	6595	SMARCA2	OMIM:601358
HP:0006261	Abnormal phalangeal joint morphology of the hand	57492	ARID1B	OMIM:135900
HP:0006261	Abnormal phalangeal joint morphology of the hand	6874	TAF4	OMIM:620450
HP:0006261	Abnormal phalangeal joint morphology of the hand	6597	SMARCA4	OMIM:614609
HP:0006261	Abnormal phalangeal joint morphology of the hand	83452	RAB33B	OMIM:615222
HP:0006261	Abnormal phalangeal joint morphology of the hand	3586	IL10	OMIM:180300
HP:0006261	Abnormal phalangeal joint morphology of the hand	6583	SLC22A4	OMIM:180300
HP:0006261	Abnormal phalangeal joint morphology of the hand	26191	PTPN22	OMIM:180300
HP:0006261	Abnormal phalangeal joint morphology of the hand	4261	CIITA	OMIM:180300
HP:0006261	Abnormal phalangeal joint morphology of the hand	51744	CD244	OMIM:180300
HP:0006261	Abnormal phalangeal joint morphology of the hand	4795	NFKBIL1	OMIM:180300
HP:0006261	Abnormal phalangeal joint morphology of the hand	4313	MMP2	OMIM:259600
HP:0006261	Abnormal phalangeal joint morphology of the hand	7227	TRPS1	OMIM:190350
HP:0006261	Abnormal phalangeal joint morphology of the hand	3861	KRT14	ORPHA:69087
HP:0006261	Abnormal phalangeal joint morphology of the hand	1080	CFTR	ORPHA:498359
HP:0006261	Abnormal phalangeal joint morphology of the hand	10765	KDM5B	OMIM:618109
HP:0006261	Abnormal phalangeal joint morphology of the hand	9487	PIGL	OMIM:280000
HP:0006261	Abnormal phalangeal joint morphology of the hand	10093	ARPC4	OMIM:620141
HP:0006261	Abnormal phalangeal joint morphology of the hand	11011	TLK2	OMIM:618050
HP:0006261	Abnormal phalangeal joint morphology of the hand	6909	TBX2	OMIM:618223
HP:0006261	Abnormal phalangeal joint morphology of the hand	90459	ERI1	OMIM:620662
HP:0006261	Abnormal phalangeal joint morphology of the hand	80816	ASXL3	OMIM:615485
HP:0006261	Abnormal phalangeal joint morphology of the hand	81857	MED25	ORPHA:464738
HP:0006261	Abnormal phalangeal joint morphology of the hand	8243	SMC1A	OMIM:301044
HP:0006261	Abnormal phalangeal joint morphology of the hand	1277	COL1A1	OMIM:130060
HP:0006261	Abnormal phalangeal joint morphology of the hand	23327	NEDD4L	OMIM:617201
HP:0006261	Abnormal phalangeal joint morphology of the hand	8985	PLOD3	OMIM:612394
HP:0006261	Abnormal phalangeal joint morphology of the hand	6134	RPL10	OMIM:300998
HP:0006261	Abnormal phalangeal joint morphology of the hand	1280	COL2A1	OMIM:604864
HP:0006261	Abnormal phalangeal joint morphology of the hand	2218	FKTN	ORPHA:272
HP:0006261	Abnormal phalangeal joint morphology of the hand	4621	MYH3	ORPHA:2053
HP:0006261	Abnormal phalangeal joint morphology of the hand	4621	MYH3	ORPHA:1146
HP:0006261	Abnormal phalangeal joint morphology of the hand	4621	MYH3	ORPHA:2990
HP:0006261	Abnormal phalangeal joint morphology of the hand	259232	NALCN	ORPHA:2053
HP:0006261	Abnormal phalangeal joint morphology of the hand	259232	NALCN	ORPHA:1146
HP:0006261	Abnormal phalangeal joint morphology of the hand	8294	H4C9	OMIM:619951
HP:0006261	Abnormal phalangeal joint morphology of the hand	3094	HINT1	ORPHA:324442
HP:0006261	Abnormal phalangeal joint morphology of the hand	1947	EFNB1	ORPHA:1520
HP:0006261	Abnormal phalangeal joint morphology of the hand	7355	SLC35A2	ORPHA:356961
HP:0006261	Abnormal phalangeal joint morphology of the hand	118429	ANTXR2	ORPHA:2176
HP:0006261	Abnormal phalangeal joint morphology of the hand	5077	PAX3	ORPHA:1529
HP:0006261	Abnormal phalangeal joint morphology of the hand	5077	PAX3	ORPHA:896
HP:0006261	Abnormal phalangeal joint morphology of the hand	5077	PAX3	OMIM:148820
HP:0006261	Abnormal phalangeal joint morphology of the hand	2316	FLNA	OMIM:300244
HP:0006261	Abnormal phalangeal joint morphology of the hand	2316	FLNA	ORPHA:90652
HP:0006261	Abnormal phalangeal joint morphology of the hand	2316	FLNA	ORPHA:1826
HP:0006261	Abnormal phalangeal joint morphology of the hand	2316	FLNA	OMIM:305620
HP:0006261	Abnormal phalangeal joint morphology of the hand	9241	NOG	ORPHA:3250
HP:0006261	Abnormal phalangeal joint morphology of the hand	8200	GDF5	ORPHA:3250
HP:0006261	Abnormal phalangeal joint morphology of the hand	54968	TMEM70	ORPHA:1194
HP:0006261	Abnormal phalangeal joint morphology of the hand	613	BCR	ORPHA:261330
HP:0006261	Abnormal phalangeal joint morphology of the hand	1399	CRKL	ORPHA:261330
HP:0006261	Abnormal phalangeal joint morphology of the hand	5594	MAPK1	ORPHA:261330
HP:0006261	Abnormal phalangeal joint morphology of the hand	84466	MEGF10	OMIM:614399
HP:0006261	Abnormal phalangeal joint morphology of the hand	72	ACTG2	ORPHA:2604
HP:0006261	Abnormal phalangeal joint morphology of the hand	2201	FBN2	OMIM:121050
HP:0006261	Abnormal phalangeal joint morphology of the hand	2201	FBN2	ORPHA:115
HP:0006261	Abnormal phalangeal joint morphology of the hand	10216	PRG4	ORPHA:2848
HP:0006261	Abnormal phalangeal joint morphology of the hand	3508	IGHMBP2	OMIM:604320
HP:0006261	Abnormal phalangeal joint morphology of the hand	6926	TBX3	ORPHA:3138
HP:0006261	Abnormal phalangeal joint morphology of the hand	51360	MBTPS2	ORPHA:2273
HP:0006261	Abnormal phalangeal joint morphology of the hand	10381	TUBB3	OMIM:600638
HP:0006261	Abnormal phalangeal joint morphology of the hand	9469	CHST3	OMIM:143095
HP:0006261	Abnormal phalangeal joint morphology of the hand	3423	IDS	ORPHA:217085
HP:0006261	Abnormal phalangeal joint morphology of the hand	3423	IDS	ORPHA:217093
HP:0006261	Abnormal phalangeal joint morphology of the hand	64359	NXN	ORPHA:1507
HP:0006261	Abnormal phalangeal joint morphology of the hand	4920	ROR2	ORPHA:1507
HP:0006261	Abnormal phalangeal joint morphology of the hand	2697	GJA1	ORPHA:2710
HP:0006261	Abnormal phalangeal joint morphology of the hand	2697	GJA1	ORPHA:93404
HP:0006261	Abnormal phalangeal joint morphology of the hand	64127	NOD2	OMIM:186580
HP:0006261	Abnormal phalangeal joint morphology of the hand	64127	NOD2	ORPHA:90340
HP:0006261	Abnormal phalangeal joint morphology of the hand	6999	TDO2	OMIM:600627
HP:0006261	Abnormal phalangeal joint morphology of the hand	1301	COL11A1	ORPHA:2021
HP:0006261	Abnormal phalangeal joint morphology of the hand	4929	NR4A2	ORPHA:1617
HP:0006261	Abnormal phalangeal joint morphology of the hand	10716	TBR1	ORPHA:1617
HP:0006261	Abnormal phalangeal joint morphology of the hand	3425	IDUA	OMIM:607015
HP:0006261	Abnormal phalangeal joint morphology of the hand	3425	IDUA	ORPHA:93473
HP:0006261	Abnormal phalangeal joint morphology of the hand	4593	MUSK	OMIM:208150
HP:0006261	Abnormal phalangeal joint morphology of the hand	4593	MUSK	ORPHA:994
HP:0006261	Abnormal phalangeal joint morphology of the hand	63895	PIEZO2	OMIM:114300
HP:0006261	Abnormal phalangeal joint morphology of the hand	63895	PIEZO2	ORPHA:376
HP:0006261	Abnormal phalangeal joint morphology of the hand	63895	PIEZO2	ORPHA:2461
HP:0006261	Abnormal phalangeal joint morphology of the hand	56006	SMG9	OMIM:616920
HP:0006261	Abnormal phalangeal joint morphology of the hand	1857	DVL3	ORPHA:3107
HP:0006261	Abnormal phalangeal joint morphology of the hand	7474	WNT5A	ORPHA:3107
HP:0006261	Abnormal phalangeal joint morphology of the hand	1855	DVL1	ORPHA:3107
HP:0006261	Abnormal phalangeal joint morphology of the hand	2535	FZD2	ORPHA:3107
HP:0006261	Abnormal phalangeal joint morphology of the hand	9508	ADAMTS3	ORPHA:2136
HP:0006261	Abnormal phalangeal joint morphology of the hand	147372	CCBE1	ORPHA:2136
HP:0006261	Abnormal phalangeal joint morphology of the hand	79633	FAT4	ORPHA:2136
HP:0006261	Abnormal phalangeal joint morphology of the hand	5189	PEX1	ORPHA:3220
HP:0006261	Abnormal phalangeal joint morphology of the hand	5190	PEX6	ORPHA:3220
HP:0006261	Abnormal phalangeal joint morphology of the hand	5590	PRKCZ	ORPHA:1606
HP:0006261	Abnormal phalangeal joint morphology of the hand	2563	GABRD	ORPHA:1606
HP:0006261	Abnormal phalangeal joint morphology of the hand	23013	SPEN	ORPHA:1606
HP:0006261	Abnormal phalangeal joint morphology of the hand	8510	MMP23B	ORPHA:1606
HP:0006261	Abnormal phalangeal joint morphology of the hand	7798	LUZP1	ORPHA:1606
HP:0006261	Abnormal phalangeal joint morphology of the hand	6497	SKI	ORPHA:1606
HP:0006261	Abnormal phalangeal joint morphology of the hand	6497	SKI	ORPHA:2462
HP:0006261	Abnormal phalangeal joint morphology of the hand	10630	PDPN	ORPHA:1606
HP:0006261	Abnormal phalangeal joint morphology of the hand	3339	HSPG2	ORPHA:1606
HP:0006261	Abnormal phalangeal joint morphology of the hand	10277	UBE4B	ORPHA:1606
HP:0006261	Abnormal phalangeal joint morphology of the hand	8514	KCNAB2	ORPHA:1606
HP:0006261	Abnormal phalangeal joint morphology of the hand	473	RERE	ORPHA:1606
HP:0006261	Abnormal phalangeal joint morphology of the hand	63976	PRDM16	ORPHA:1606
HP:0006261	Abnormal phalangeal joint morphology of the hand	54897	CASZ1	ORPHA:1606
HP:0006261	Abnormal phalangeal joint morphology of the hand	9719	ADAMTSL2	OMIM:231050
HP:0006261	Abnormal phalangeal joint morphology of the hand	4952	OCRL	OMIM:309000
HP:0006261	Abnormal phalangeal joint morphology of the hand	8517	IKBKG	ORPHA:464
HP:0006261	Abnormal phalangeal joint morphology of the hand	10436	EMG1	ORPHA:1270
HP:0006261	Abnormal phalangeal joint morphology of the hand	11128	POLR3A	ORPHA:3455
HP:0006261	Abnormal phalangeal joint morphology of the hand	2239	GPC4	ORPHA:373
HP:0006261	Abnormal phalangeal joint morphology of the hand	2719	GPC3	ORPHA:373
HP:0006261	Abnormal phalangeal joint morphology of the hand	55612	FERMT1	ORPHA:2908
HP:0006261	Abnormal phalangeal joint morphology of the hand	3977	LIFR	ORPHA:3206
HP:0006261	Abnormal phalangeal joint morphology of the hand	23483	TGDS	ORPHA:1388
HP:0006261	Abnormal phalangeal joint morphology of the hand	2260	FGFR1	OMIM:166250
HP:0006261	Abnormal phalangeal joint morphology of the hand	7140	TNNT3	ORPHA:1146
HP:0006261	Abnormal phalangeal joint morphology of the hand	7169	TPM2	ORPHA:1146
HP:0006261	Abnormal phalangeal joint morphology of the hand	7136	TNNI2	ORPHA:1146
HP:0006261	Abnormal phalangeal joint morphology of the hand	7136	TNNI2	OMIM:601680
HP:0006261	Abnormal phalangeal joint morphology of the hand	4604	MYBPC1	ORPHA:1146
HP:0006261	Abnormal phalangeal joint morphology of the hand	6885	MAP3K7	ORPHA:1826
HP:0006261	Abnormal phalangeal joint morphology of the hand	117581	TWIST2	ORPHA:920
HP:0006261	Abnormal phalangeal joint morphology of the hand	64324	NSD1	ORPHA:3447
HP:0006261	Abnormal phalangeal joint morphology of the hand	23512	SUZ12	ORPHA:3447
HP:0006261	Abnormal phalangeal joint morphology of the hand	2146	EZH2	ORPHA:3447
HP:0006261	Abnormal phalangeal joint morphology of the hand	1723	DHODH	ORPHA:246
HP:0006261	Abnormal phalangeal joint morphology of the hand	257	ALX3	ORPHA:391474
HP:0006261	Abnormal phalangeal joint morphology of the hand	3239	HOXD13	OMIM:186300
HP:0006261	Abnormal phalangeal joint morphology of the hand	3239	HOXD13	ORPHA:93406
HP:0006261	Abnormal phalangeal joint morphology of the hand	54903	MKS1	OMIM:249000
HP:0006261	Abnormal phalangeal joint morphology of the hand	91252	SLC39A13	OMIM:612350
HP:0006261	Abnormal phalangeal joint morphology of the hand	22930	RAB3GAP1	OMIM:619420
HP:0006261	Abnormal phalangeal joint morphology of the hand	7046	TGFBR1	ORPHA:60030
HP:0006261	Abnormal phalangeal joint morphology of the hand	10526	IPO8	ORPHA:60030
HP:0006261	Abnormal phalangeal joint morphology of the hand	7048	TGFBR2	ORPHA:60030
HP:0006261	Abnormal phalangeal joint morphology of the hand	7042	TGFB2	ORPHA:60030
HP:0006261	Abnormal phalangeal joint morphology of the hand	7043	TGFB3	ORPHA:60030
HP:0006261	Abnormal phalangeal joint morphology of the hand	4087	SMAD2	ORPHA:60030
HP:0006261	Abnormal phalangeal joint morphology of the hand	3897	L1CAM	ORPHA:2466
HP:0006261	Abnormal phalangeal joint morphology of the hand	2245	FGD1	ORPHA:915
HP:0006261	Abnormal phalangeal joint morphology of the hand	2200	FBN1	ORPHA:2462
HP:0006261	Abnormal phalangeal joint morphology of the hand	27238	GPKOW	ORPHA:2570
HP:0006261	Abnormal phalangeal joint morphology of the hand	10466	COG5	ORPHA:263487
HP:0006261	Abnormal phalangeal joint morphology of the hand	55315	SLC29A3	OMIM:602782
HP:0006261	Abnormal phalangeal joint morphology of the hand	23102	TBC1D2B	OMIM:619323
HP:0006261	Abnormal phalangeal joint morphology of the hand	2068	ERCC2	OMIM:610756
HP:0006261	Abnormal phalangeal joint morphology of the hand	2068	ERCC2	ORPHA:1466
HP:0006261	Abnormal phalangeal joint morphology of the hand	51114	ZDHHC9	ORPHA:776
HP:0006261	Abnormal phalangeal joint morphology of the hand	65109	UPF3B	ORPHA:776
HP:0006261	Abnormal phalangeal joint morphology of the hand	9968	MED12	ORPHA:776
HP:0006261	Abnormal phalangeal joint morphology of the hand	2067	ERCC1	OMIM:610758
HP:0006261	Abnormal phalangeal joint morphology of the hand	2067	ERCC1	ORPHA:1466
HP:0006261	Abnormal phalangeal joint morphology of the hand	114548	NLRP3	ORPHA:575
HP:0006261	Abnormal phalangeal joint morphology of the hand	2074	ERCC6	ORPHA:1466
HP:0006261	Abnormal phalangeal joint morphology of the hand	2073	ERCC5	ORPHA:1466
HP:0006261	Abnormal phalangeal joint morphology of the hand	134701	RIPPLY2	ORPHA:2311
HP:0006261	Abnormal phalangeal joint morphology of the hand	10683	DLL3	ORPHA:2311
HP:0006261	Abnormal phalangeal joint morphology of the hand	3955	LFNG	ORPHA:2311
HP:0006261	Abnormal phalangeal joint morphology of the hand	84667	HES7	ORPHA:2311
HP:0006261	Abnormal phalangeal joint morphology of the hand	145873	MESP2	ORPHA:2311
HP:0006261	Abnormal phalangeal joint morphology of the hand	81620	CDT1	ORPHA:2554
HP:0006261	Abnormal phalangeal joint morphology of the hand	5000	ORC4	ORPHA:2554
HP:0006261	Abnormal phalangeal joint morphology of the hand	23594	ORC6	ORPHA:2554
HP:0006261	Abnormal phalangeal joint morphology of the hand	8318	CDC45	ORPHA:2554
HP:0006261	Abnormal phalangeal joint morphology of the hand	990	CDC6	ORPHA:2554
HP:0006261	Abnormal phalangeal joint morphology of the hand	4998	ORC1	ORPHA:2554
HP:0006261	Abnormal phalangeal joint morphology of the hand	51053	GMNN	ORPHA:2554
HP:0006261	Abnormal phalangeal joint morphology of the hand	8260	NAA10	ORPHA:568
HP:0006261	Abnormal phalangeal joint morphology of the hand	54880	BCOR	ORPHA:568
HP:0006261	Abnormal phalangeal joint morphology of the hand	64327	LMBR1	ORPHA:93405
HP:0006261	Abnormal phalangeal joint morphology of the hand	6469	SHH	ORPHA:93405
HP:0006261	Abnormal phalangeal joint morphology of the hand	51715	RAB23	ORPHA:65759
HP:0006261	Abnormal phalangeal joint morphology of the hand	1954	MEGF8	ORPHA:65759
HP:0006261	Abnormal phalangeal joint morphology of the hand	55605	KIF21A	ORPHA:994
HP:0006261	Abnormal phalangeal joint morphology of the hand	4927	NUP88	ORPHA:994
HP:0006261	Abnormal phalangeal joint morphology of the hand	7846	TUBA1A	ORPHA:994
HP:0006261	Abnormal phalangeal joint morphology of the hand	4654	MYOD1	ORPHA:994
HP:0006261	Abnormal phalangeal joint morphology of the hand	54551	MAGEL2	ORPHA:994
HP:0006261	Abnormal phalangeal joint morphology of the hand	5913	RAPSN	ORPHA:994
HP:0006261	Abnormal phalangeal joint morphology of the hand	6572	SLC18A3	ORPHA:994
HP:0006261	Abnormal phalangeal joint morphology of the hand	285489	DOK7	ORPHA:994
HP:0006261	Abnormal phalangeal joint morphology of the hand	3914	LAMB3	OMIM:226650
HP:0006261	Abnormal phalangeal joint morphology of the hand	8092	ALX1	ORPHA:306542
HP:0006261	Abnormal phalangeal joint morphology of the hand	29895	MYL11	OMIM:619110
HP:0006261	Abnormal phalangeal joint morphology of the hand	64840	PORCN	ORPHA:2092
HP:0006261	Abnormal phalangeal joint morphology of the hand	23443	SLC35A3	OMIM:615553
HP:0006261	Abnormal phalangeal joint morphology of the hand	285590	SH3PXD2B	ORPHA:137834
HP:0006261	Abnormal phalangeal joint morphology of the hand	1836	SLC26A2	ORPHA:628
HP:0006261	Abnormal phalangeal joint morphology of the hand	25914	RTTN	ORPHA:468631
HP:0006261	Abnormal phalangeal joint morphology of the hand	9935	MAFB	ORPHA:2774
HP:0006261	Abnormal phalangeal joint morphology of the hand	28952	CCDC22	OMIM:300963
HP:0006261	Abnormal phalangeal joint morphology of the hand	8450	CUL4B	ORPHA:85293
HP:0006261	Abnormal phalangeal joint morphology of the hand	1303	COL12A1	ORPHA:610
HP:0006261	Abnormal phalangeal joint morphology of the hand	1291	COL6A1	ORPHA:610
HP:0006261	Abnormal phalangeal joint morphology of the hand	1291	COL6A1	OMIM:158810
HP:0006261	Abnormal phalangeal joint morphology of the hand	1292	COL6A2	ORPHA:610
HP:0006261	Abnormal phalangeal joint morphology of the hand	1293	COL6A3	ORPHA:610
HP:0006261	Abnormal phalangeal joint morphology of the hand	26092	TOR1AIP1	OMIM:617072
HP:0006261	Abnormal phalangeal joint morphology of the hand	8242	KDM5C	ORPHA:85279
HP:0006261	Abnormal phalangeal joint morphology of the hand	2261	FGFR3	ORPHA:85164
HP:0006261	Abnormal phalangeal joint morphology of the hand	4000	LMNA	ORPHA:1662
HP:0006261	Abnormal phalangeal joint morphology of the hand	10269	ZMPSTE24	ORPHA:1662
HP:0006261	Abnormal phalangeal joint morphology of the hand	1146	CHRNG	ORPHA:2990
HP:0006261	Abnormal phalangeal joint morphology of the hand	23522	KAT6B	ORPHA:3047
HP:0006261	Abnormal phalangeal joint morphology of the hand	26123	TCTN3	ORPHA:2753
HP:0006261	Abnormal phalangeal joint morphology of the hand	64131	XYLT1	ORPHA:1425
HP:0006261	Abnormal phalangeal joint morphology of the hand	124583	CANT1	ORPHA:1425
HP:0006261	Abnormal phalangeal joint morphology of the hand	55790	CSGALNACT1	ORPHA:1425
HP:0006261	Abnormal phalangeal joint morphology of the hand	23529	CLCF1	ORPHA:1545
HP:0006261	Abnormal phalangeal joint morphology of the hand	9244	CRLF1	ORPHA:1545
HP:0006261	Abnormal phalangeal joint morphology of the hand	79693	YRDC	ORPHA:2065
HP:0006261	Abnormal phalangeal joint morphology of the hand	51002	TPRKB	ORPHA:2065
HP:0006261	Abnormal phalangeal joint morphology of the hand	84942	WDR73	ORPHA:2065
HP:0006261	Abnormal phalangeal joint morphology of the hand	55644	OSGEP	ORPHA:2065
HP:0006261	Abnormal phalangeal joint morphology of the hand	57122	NUP107	ORPHA:2065
HP:0006261	Abnormal phalangeal joint morphology of the hand	10785	WDR4	ORPHA:2065
HP:0006261	Abnormal phalangeal joint morphology of the hand	55746	NUP133	ORPHA:2065
HP:0006261	Abnormal phalangeal joint morphology of the hand	84520	GON7	ORPHA:2065
HP:0006261	Abnormal phalangeal joint morphology of the hand	112858	TP53RK	ORPHA:2065
HP:0006261	Abnormal phalangeal joint morphology of the hand	8270	LAGE3	ORPHA:2065
HP:0006261	Abnormal phalangeal joint morphology of the hand	5696	PSMB8	OMIM:256040
HP:0006261	Abnormal phalangeal joint morphology of the hand	56916	SMARCAD1	ORPHA:1658
HP:0000963	Thin skin	5351	PLOD1	OMIM:225400
HP:0000963	Thin skin	7148	TNXB	ORPHA:230839
HP:0000963	Thin skin	23394	ADNP	OMIM:615873
HP:0000963	Thin skin	2778	GNAS	OMIM:219080
HP:0000963	Thin skin	2202	EFEMP1	OMIM:620780
HP:0000963	Thin skin	117581	TWIST2	OMIM:200110
HP:0000963	Thin skin	117581	TWIST2	ORPHA:920
HP:0000963	Thin skin	1278	COL1A2	ORPHA:230851
HP:0000963	Thin skin	1278	COL1A2	OMIM:166210
HP:0000963	Thin skin	1278	COL1A2	OMIM:225320
HP:0000963	Thin skin	1278	COL1A2	ORPHA:1899
HP:0000963	Thin skin	89910	UBE3B	OMIM:244450
HP:0000963	Thin skin	1294	COL7A1	ORPHA:158673
HP:0000963	Thin skin	50940	PDE11A	OMIM:610475
HP:0000963	Thin skin	5831	PYCR1	OMIM:614438
HP:0000963	Thin skin	5831	PYCR1	OMIM:612940
HP:0000963	Thin skin	5831	PYCR1	ORPHA:2078
HP:0000963	Thin skin	8626	TP63	OMIM:103285
HP:0000963	Thin skin	8626	TP63	OMIM:129400
HP:0000963	Thin skin	8626	TP63	ORPHA:978
HP:0000963	Thin skin	4000	LMNA	ORPHA:90153
HP:0000963	Thin skin	4000	LMNA	ORPHA:79474
HP:0000963	Thin skin	4000	LMNA	ORPHA:280365
HP:0000963	Thin skin	4000	LMNA	ORPHA:2348
HP:0000963	Thin skin	10269	ZMPSTE24	ORPHA:90154
HP:0000963	Thin skin	10269	ZMPSTE24	OMIM:275210
HP:0000963	Thin skin	3849	KRT2	ORPHA:455
HP:0000963	Thin skin	84196	USP48	ORPHA:96253
HP:0000963	Thin skin	7157	TP53	ORPHA:96253
HP:0000963	Thin skin	9101	USP8	ORPHA:96253
HP:0000963	Thin skin	9101	USP8	OMIM:219090
HP:0000963	Thin skin	64072	CDH23	ORPHA:96253
HP:0000963	Thin skin	2908	NR3C1	ORPHA:96253
HP:0000963	Thin skin	673	BRAF	ORPHA:96253
HP:0000963	Thin skin	546	ATRX	ORPHA:96253
HP:0000963	Thin skin	1896	EDA	OMIM:305100
HP:0000963	Thin skin	54345	SOX18	OMIM:607823
HP:0000963	Thin skin	2332	FMR1	ORPHA:449291
HP:0000963	Thin skin	4998	ORC1	OMIM:224690
HP:0000963	Thin skin	10616	RBCK1	OMIM:615895
HP:0000963	Thin skin	1147	CHUK	OMIM:613630
HP:0000963	Thin skin	5468	PPARG	ORPHA:79083
HP:0000963	Thin skin	1277	COL1A1	OMIM:166210
HP:0000963	Thin skin	1277	COL1A1	OMIM:166200
HP:0000963	Thin skin	1277	COL1A1	ORPHA:1899
HP:0000963	Thin skin	5573	PRKAR1A	OMIM:610489
HP:0000963	Thin skin	9719	ADAMTSL2	ORPHA:1901
HP:0000963	Thin skin	9509	ADAMTS2	ORPHA:1901
HP:0000963	Thin skin	857	CAV1	OMIM:606721
HP:0000963	Thin skin	1281	COL3A1	ORPHA:286
HP:0000963	Thin skin	1281	COL3A1	ORPHA:2500
HP:0000963	Thin skin	4784	NFIX	ORPHA:561
HP:0000963	Thin skin	5159	PDGFRB	OMIM:616592
HP:0000963	Thin skin	5159	PDGFRB	OMIM:601812
HP:0000963	Thin skin	3977	LIFR	OMIM:601559
HP:0000963	Thin skin	4507	MTAP	OMIM:112250
HP:0000963	Thin skin	25	ABL1	OMIM:617602
HP:0000963	Thin skin	23314	SATB2	OMIM:612313
HP:0000963	Thin skin	9049	AIP	OMIM:219090
HP:0000963	Thin skin	11285	B4GALT7	ORPHA:75496
HP:0000963	Thin skin	375	ARF1	ORPHA:98892
HP:0000963	Thin skin	4131	MAP1B	ORPHA:98892
HP:0000963	Thin skin	2316	FLNA	ORPHA:98892
HP:0000963	Thin skin	2316	FLNA	ORPHA:75497
HP:0000963	Thin skin	23327	NEDD4L	ORPHA:98892
HP:0000963	Thin skin	160418	TMTC3	ORPHA:98892
HP:0000963	Thin skin	10564	ARFGEF2	ORPHA:98892
HP:0000963	Thin skin	55780	ERMARD	ORPHA:98892
HP:0000963	Thin skin	9791	PTDSS1	OMIM:151050
HP:0000963	Thin skin	64840	PORCN	ORPHA:2092
HP:0000963	Thin skin	80326	WNT10A	OMIM:150400
HP:0000963	Thin skin	81031	SLC2A10	ORPHA:3342
HP:0000963	Thin skin	81031	SLC2A10	OMIM:208050
HP:0000963	Thin skin	11128	POLR3A	OMIM:264090
HP:0000963	Thin skin	11128	POLR3A	ORPHA:3455
HP:0000963	Thin skin	5627	PROS1	ORPHA:743
HP:0000963	Thin skin	5184	PEPD	ORPHA:742
HP:0000963	Thin skin	5624	PROC	ORPHA:745
HP:0000963	Thin skin	715	C1R	OMIM:130080
HP:0000963	Thin skin	5500	PPP1CB	OMIM:617506
HP:0000963	Thin skin	5832	ALDH18A1	OMIM:219150
HP:0000963	Thin skin	126792	B3GALT6	ORPHA:536467
HP:0000963	Thin skin	5295	PIK3R1	OMIM:269880
HP:0000963	Thin skin	92344	GORAB	ORPHA:2078
HP:0000963	Thin skin	5965	RECQL	OMIM:620370
HP:0000963	Thin skin	91252	SLC39A13	ORPHA:157965
HP:0000963	Thin skin	91252	SLC39A13	OMIM:612350
HP:0000963	Thin skin	9742	IFT140	OMIM:266920
HP:0000963	Thin skin	4921	DDR2	OMIM:618175
HP:0000963	Thin skin	5587	PRKD1	OMIM:617364
HP:0000963	Thin skin	80169	CTC1	OMIM:612199
HP:0000963	Thin skin	7046	TGFBR1	ORPHA:60030
HP:0000963	Thin skin	10526	IPO8	ORPHA:60030
HP:0000963	Thin skin	7048	TGFBR2	ORPHA:60030
HP:0000963	Thin skin	7042	TGFB2	ORPHA:60030
HP:0000963	Thin skin	7043	TGFB3	ORPHA:60030
HP:0000963	Thin skin	4087	SMAD2	ORPHA:60030
HP:0000963	Thin skin	4088	SMAD3	ORPHA:60030
HP:0000963	Thin skin	22907	DHX30	OMIM:617804
HP:0000963	Thin skin	56916	SMARCAD1	ORPHA:1658
HP:0000963	Thin skin	7189	TRAF6	ORPHA:1810
HP:0000963	Thin skin	128178	EDARADD	ORPHA:1810
HP:0000963	Thin skin	126695	KDF1	ORPHA:1810
HP:0000963	Thin skin	10913	EDAR	ORPHA:1810
HP:0000963	Thin skin	2068	ERCC2	ORPHA:910
HP:0000963	Thin skin	7507	XPA	ORPHA:910
HP:0000963	Thin skin	2071	ERCC3	ORPHA:910
HP:0000963	Thin skin	7508	XPC	ORPHA:910
HP:0000963	Thin skin	1643	DDB2	ORPHA:910
HP:0000963	Thin skin	2072	ERCC4	ORPHA:910
HP:0000963	Thin skin	2073	ERCC5	ORPHA:910
HP:0001022	Albinism	63915	BLOC1S5	OMIM:619172
HP:0001022	Albinism	57724	EPG5	OMIM:242840
HP:0001022	Albinism	7299	TYR	OMIM:606952
HP:0001022	Albinism	7299	TYR	OMIM:203100
HP:0001022	Albinism	7299	TYR	ORPHA:79431
HP:0001022	Albinism	7299	TYR	ORPHA:79434
HP:0001022	Albinism	8943	AP3D1	OMIM:617050
HP:0001022	Albinism	11152	WDR45	OMIM:615179
HP:0001022	Albinism	83938	LRMDA	OMIM:615179
HP:0001022	Albinism	4157	MC1R	OMIM:203200
HP:0001022	Albinism	4948	OCA2	OMIM:203200
HP:0001022	Albinism	3257	HPS1	OMIM:203300
HP:0001022	Albinism	51151	SLC45A2	OMIM:606574
HP:0001022	Albinism	51151	SLC45A2	ORPHA:79435
HP:0001022	Albinism	8546	AP3B1	OMIM:608233
HP:0001022	Albinism	1910	EDNRB	OMIM:600501
HP:0001022	Albinism	89781	HPS4	OMIM:614073
HP:0001022	Albinism	11234	HPS5	OMIM:614074
HP:0001022	Albinism	4286	MITF	OMIM:193510
HP:0001022	Albinism	84343	HPS3	OMIM:614072
HP:0001022	Albinism	7306	TYRP1	OMIM:203290
HP:0001022	Albinism	388552	BLOC1S3	OMIM:614077
HP:0001022	Albinism	79803	HPS6	OMIM:614075
HP:0001022	Albinism	84062	DTNBP1	OMIM:614076
HP:0001065	Striae distensae	4088	SMAD3	ORPHA:284984
HP:0001065	Striae distensae	4088	SMAD3	OMIM:613795
HP:0001065	Striae distensae	4088	SMAD3	ORPHA:60030
HP:0001065	Striae distensae	8450	CUL4B	OMIM:300354
HP:0001065	Striae distensae	84196	USP48	ORPHA:96253
HP:0001065	Striae distensae	7157	TP53	ORPHA:96253
HP:0001065	Striae distensae	7157	TP53	ORPHA:1501
HP:0001065	Striae distensae	9101	USP8	ORPHA:96253
HP:0001065	Striae distensae	9101	USP8	OMIM:219090
HP:0001065	Striae distensae	64072	CDH23	ORPHA:96253
HP:0001065	Striae distensae	2908	NR3C1	ORPHA:96253
HP:0001065	Striae distensae	673	BRAF	ORPHA:96253
HP:0001065	Striae distensae	546	ATRX	ORPHA:96253
HP:0001065	Striae distensae	23013	SPEN	OMIM:619312
HP:0001065	Striae distensae	2200	FBN1	OMIM:154700
HP:0001065	Striae distensae	2200	FBN1	OMIM:129600
HP:0001065	Striae distensae	2200	FBN1	OMIM:608328
HP:0001065	Striae distensae	2200	FBN1	OMIM:604308
HP:0001065	Striae distensae	57680	CHD8	OMIM:615032
HP:0001065	Striae distensae	1315	COPB1	OMIM:619255
HP:0001065	Striae distensae	80204	FBXO11	OMIM:618089
HP:0001065	Striae distensae	4087	SMAD2	OMIM:619656
HP:0001065	Striae distensae	4087	SMAD2	ORPHA:60030
HP:0001065	Striae distensae	2778	GNAS	OMIM:219080
HP:0001065	Striae distensae	2778	GNAS	ORPHA:189427
HP:0001065	Striae distensae	7048	TGFBR2	OMIM:610168
HP:0001065	Striae distensae	7048	TGFBR2	ORPHA:60030
HP:0001065	Striae distensae	5573	PRKAR1A	OMIM:610489
HP:0001065	Striae distensae	5573	PRKAR1A	ORPHA:1501
HP:0001065	Striae distensae	5573	PRKAR1A	ORPHA:1359
HP:0001065	Striae distensae	84133	ZNRF3	ORPHA:1501
HP:0001065	Striae distensae	1499	CTNNB1	ORPHA:1501
HP:0001065	Striae distensae	1029	CDKN2A	ORPHA:1501
HP:0001065	Striae distensae	7015	TERT	ORPHA:1501
HP:0001065	Striae distensae	1277	COL1A1	ORPHA:287
HP:0001065	Striae distensae	1289	COL5A1	ORPHA:287
HP:0001065	Striae distensae	1289	COL5A1	OMIM:619329
HP:0001065	Striae distensae	1290	COL5A2	ORPHA:287
HP:0001065	Striae distensae	7148	TNXB	OMIM:606408
HP:0001065	Striae distensae	633	BGN	OMIM:300989
HP:0001065	Striae distensae	4015	LOX	OMIM:617168
HP:0001065	Striae distensae	1742	DLG4	OMIM:618793
HP:0001065	Striae distensae	7046	TGFBR1	ORPHA:60030
HP:0001065	Striae distensae	7046	TGFBR1	OMIM:609192
HP:0001065	Striae distensae	10526	IPO8	ORPHA:60030
HP:0001065	Striae distensae	7042	TGFB2	ORPHA:60030
HP:0001065	Striae distensae	7042	TGFB2	OMIM:614816
HP:0001065	Striae distensae	7043	TGFB3	ORPHA:60030
HP:0001065	Striae distensae	79798	ARMC5	ORPHA:189427
HP:0001065	Striae distensae	23028	KDM1A	ORPHA:189427
HP:0001065	Striae distensae	50940	PDE11A	OMIM:610475
HP:0001065	Striae distensae	50940	PDE11A	ORPHA:1359
HP:0001065	Striae distensae	9049	AIP	OMIM:219090
HP:0001065	Striae distensae	5167	ENPP1	ORPHA:758
HP:0001065	Striae distensae	368	ABCC6	ORPHA:758
HP:0001024	Skin dimple over apex of long bone angulation	249	ALPL	OMIM:241500
HP:0001024	Skin dimple over apex of long bone angulation	249	ALPL	OMIM:241510
HP:0001025	Urticaria	171023	ASXL1	ORPHA:98850
HP:0001025	Urticaria	171023	ASXL1	ORPHA:98849
HP:0001025	Urticaria	54790	TET2	ORPHA:98850
HP:0001025	Urticaria	54790	TET2	ORPHA:98849
HP:0001025	Urticaria	867	CBL	ORPHA:98850
HP:0001025	Urticaria	861	RUNX1	ORPHA:98850
HP:0001025	Urticaria	6427	SRSF2	ORPHA:98850
HP:0001025	Urticaria	6427	SRSF2	ORPHA:98849
HP:0001025	Urticaria	3815	KIT	ORPHA:280785
HP:0001025	Urticaria	3815	KIT	OMIM:154800
HP:0001025	Urticaria	3815	KIT	ORPHA:98849
HP:0001025	Urticaria	3815	KIT	OMIM:606764
HP:0001025	Urticaria	875	CBS	ORPHA:394
HP:0001025	Urticaria	355	FAS	ORPHA:3261
HP:0001025	Urticaria	355	FAS	OMIM:601859
HP:0001025	Urticaria	356	FASLG	ORPHA:3261
HP:0001025	Urticaria	356	FASLG	OMIM:601859
HP:0001025	Urticaria	843	CASP10	ORPHA:3261
HP:0001025	Urticaria	843	CASP10	OMIM:603909
HP:0001025	Urticaria	10262	SF3B4	OMIM:154400
HP:0001025	Urticaria	114548	NLRP3	OMIM:617772
HP:0001025	Urticaria	114548	NLRP3	OMIM:191900
HP:0001025	Urticaria	114548	NLRP3	ORPHA:575
HP:0001025	Urticaria	114548	NLRP3	ORPHA:47045
HP:0001025	Urticaria	114548	NLRP3	ORPHA:1451
HP:0001025	Urticaria	114548	NLRP3	OMIM:120100
HP:0001025	Urticaria	5880	RAC2	OMIM:618987
HP:0001025	Urticaria	118429	ANTXR2	ORPHA:2176
HP:0001025	Urticaria	7454	WAS	ORPHA:906
HP:0001025	Urticaria	7456	WIPF1	ORPHA:906
HP:0001025	Urticaria	3119	HLA-DQB1	ORPHA:703
HP:0001025	Urticaria	3123	HLA-DRB1	ORPHA:703
HP:0001025	Urticaria	4598	MVK	ORPHA:343
HP:0001025	Urticaria	7512	XPNPEP2	ORPHA:100057
HP:0001025	Urticaria	58484	NLRC4	OMIM:616050
HP:0001025	Urticaria	58484	NLRC4	OMIM:616115
HP:0001025	Urticaria	11005	SPINK5	OMIM:256500
HP:0001025	Urticaria	11005	SPINK5	ORPHA:634
HP:0001025	Urticaria	2068	ERCC2	ORPHA:220295
HP:0001025	Urticaria	2073	ERCC5	ORPHA:220295
HP:0001025	Urticaria	2072	ERCC4	ORPHA:220295
HP:0001025	Urticaria	2071	ERCC3	ORPHA:220295
HP:0001025	Urticaria	64135	IFIH1	OMIM:615846
HP:0001025	Urticaria	224	ALDH3A2	ORPHA:816
HP:0001025	Urticaria	91662	NLRP12	OMIM:611762
HP:0001025	Urticaria	710	SERPING1	ORPHA:100050
HP:0001025	Urticaria	868	CBLB	OMIM:620430
HP:0001025	Urticaria	6785	ELOVL4	ORPHA:1955
HP:0001025	Urticaria	1369	CPN1	OMIM:212070
HP:0001025	Urticaria	51360	MBTPS2	ORPHA:2273
HP:0001025	Urticaria	50943	FOXP3	ORPHA:37042
HP:0001025	Urticaria	4615	MYD88	ORPHA:33226
HP:0001025	Urticaria	6390	SDHB	OMIM:606764
HP:0001025	Urticaria	6391	SDHC	OMIM:606764
HP:0001025	Urticaria	2783	GNB2	OMIM:619503
HP:0001025	Urticaria	80216	ALPK1	OMIM:614979
HP:0001025	Urticaria	4067	LYN	OMIM:620376
HP:0001025	Urticaria	30817	ADGRE2	OMIM:125630
HP:0001025	Urticaria	11198	SUPT16H	OMIM:619480
HP:0001025	Urticaria	10999	SLC27A4	OMIM:608649
HP:0001025	Urticaria	5336	PLCG2	OMIM:614468
HP:0001025	Urticaria	3594	IL12RB1	ORPHA:186
HP:0001025	Urticaria	23534	TNPO3	ORPHA:186
HP:0001025	Urticaria	3592	IL12A	ORPHA:186
HP:0001025	Urticaria	6689	SPIB	ORPHA:186
HP:0001025	Urticaria	5450	POU2AF1	ORPHA:186
HP:0001025	Urticaria	9966	TNFSF15	ORPHA:186
HP:0001025	Urticaria	79258	MMEL1	ORPHA:186
HP:0001025	Urticaria	3663	IRF5	ORPHA:186
HP:0001025	Urticaria	146206	CARMIL2	OMIM:618131
HP:0001026	Penetrating foot ulcers	2161	F12	ORPHA:330
HP:0001026	Penetrating foot ulcers	81846	SBF2	ORPHA:99956
HP:0001026	Penetrating foot ulcers	10558	SPTLC1	ORPHA:36386
HP:0001026	Penetrating foot ulcers	25923	ATL3	ORPHA:36386
HP:0001026	Penetrating foot ulcers	9517	SPTLC2	ORPHA:36386
HP:0001026	Penetrating foot ulcers	51062	ATL1	ORPHA:36386
HP:0001027	Soft, doughy skin	1277	COL1A1	ORPHA:287
HP:0001027	Soft, doughy skin	1277	COL1A1	OMIM:130060
HP:0001027	Soft, doughy skin	1289	COL5A1	ORPHA:287
HP:0001027	Soft, doughy skin	1289	COL5A1	OMIM:619329
HP:0001027	Soft, doughy skin	1290	COL5A2	ORPHA:287
HP:0001027	Soft, doughy skin	1290	COL5A2	OMIM:130010
HP:0001027	Soft, doughy skin	126792	B3GALT6	ORPHA:536467
HP:0001027	Soft, doughy skin	126792	B3GALT6	OMIM:615349
HP:0001027	Soft, doughy skin	126792	B3GALT6	OMIM:271640
HP:0001027	Soft, doughy skin	3636	INPPL1	OMIM:258480
HP:0001027	Soft, doughy skin	9509	ADAMTS2	OMIM:225410
HP:0001027	Soft, doughy skin	81031	SLC2A10	OMIM:208050
HP:0001027	Soft, doughy skin	1278	COL1A2	ORPHA:230851
HP:0001027	Soft, doughy skin	10367	MICU1	OMIM:615673
HP:0001027	Soft, doughy skin	6651	SON	ORPHA:500150
HP:0001027	Soft, doughy skin	4256	MGP	ORPHA:85202
HP:0001027	Soft, doughy skin	165	AEBP1	OMIM:618000
HP:0001027	Soft, doughy skin	3376	IARS1	ORPHA:541423
HP:0001027	Soft, doughy skin	64131	XYLT1	ORPHA:370930
HP:0001029	Poikiloderma	55612	FERMT1	ORPHA:2908
HP:0001029	Poikiloderma	55612	FERMT1	OMIM:173650
HP:0001029	Poikiloderma	1763	DNA2	OMIM:620819
HP:0001029	Poikiloderma	9401	RECQL4	ORPHA:1225
HP:0001029	Poikiloderma	9401	RECQL4	ORPHA:221016
HP:0001029	Poikiloderma	9401	RECQL4	OMIM:268400
HP:0001029	Poikiloderma	9401	RECQL4	OMIM:218600
HP:0001029	Poikiloderma	9401	RECQL4	OMIM:266280
HP:0001029	Poikiloderma	55699	IARS2	OMIM:616007
HP:0001029	Poikiloderma	1643	DDB2	OMIM:278740
HP:0001029	Poikiloderma	1643	DDB2	ORPHA:910
HP:0001029	Poikiloderma	64682	ANAPC1	OMIM:618625
HP:0001029	Poikiloderma	64682	ANAPC1	ORPHA:221008
HP:0001029	Poikiloderma	4000	LMNA	OMIM:212112
HP:0001029	Poikiloderma	4000	LMNA	OMIM:248370
HP:0001029	Poikiloderma	2074	ERCC6	OMIM:278800
HP:0001029	Poikiloderma	7508	XPC	OMIM:278720
HP:0001029	Poikiloderma	7508	XPC	ORPHA:910
HP:0001029	Poikiloderma	5429	POLH	ORPHA:90342
HP:0001029	Poikiloderma	5429	POLH	OMIM:278750
HP:0001029	Poikiloderma	7507	XPA	OMIM:278700
HP:0001029	Poikiloderma	7507	XPA	ORPHA:910
HP:0001029	Poikiloderma	79650	USB1	OMIM:604173
HP:0001029	Poikiloderma	641	BLM	ORPHA:125
HP:0001029	Poikiloderma	100147744	RNU7-1	OMIM:619487
HP:0001029	Poikiloderma	10651	MTX2	OMIM:619127
HP:0001029	Poikiloderma	1294	COL7A1	ORPHA:158673
HP:0001029	Poikiloderma	2068	ERCC2	ORPHA:220295
HP:0001029	Poikiloderma	2068	ERCC2	OMIM:278730
HP:0001029	Poikiloderma	2068	ERCC2	ORPHA:910
HP:0001029	Poikiloderma	2073	ERCC5	ORPHA:220295
HP:0001029	Poikiloderma	2073	ERCC5	ORPHA:910
HP:0001029	Poikiloderma	2072	ERCC4	ORPHA:220295
HP:0001029	Poikiloderma	2072	ERCC4	ORPHA:910
HP:0001029	Poikiloderma	2071	ERCC3	ORPHA:220295
HP:0001029	Poikiloderma	2071	ERCC3	ORPHA:910
HP:0001029	Poikiloderma	1493	CTLA4	ORPHA:2584
HP:0001029	Poikiloderma	940	CD28	ORPHA:2584
HP:0001029	Poikiloderma	7133	TNFRSF1B	ORPHA:2584
HP:0001029	Poikiloderma	374393	FAM111B	OMIM:615704
HP:0001029	Poikiloderma	84946	LTV1	OMIM:620199
HP:0004262	Abnormality of the capitate bone	5566	PRKACA	ORPHA:289
HP:0004262	Abnormality of the capitate bone	5567	PRKACB	ORPHA:289
HP:0004262	Abnormality of the capitate bone	2735	GLI1	ORPHA:289
HP:0004262	Abnormality of the capitate bone	2121	EVC	ORPHA:289
HP:0004262	Abnormality of the capitate bone	2121	EVC	OMIM:225500
HP:0004262	Abnormality of the capitate bone	51626	DYNC2LI1	ORPHA:289
HP:0004262	Abnormality of the capitate bone	132884	EVC2	ORPHA:289
HP:0004262	Abnormality of the capitate bone	132884	EVC2	OMIM:225500
HP:0004262	Abnormality of the capitate bone	2316	FLNA	OMIM:311300
HP:0004262	Abnormality of the capitate bone	64093	SMOC1	OMIM:206920
HP:0004262	Abnormality of the capitate bone	538	ATP7A	OMIM:304150
HP:0004262	Abnormality of the capitate bone	2317	FLNB	OMIM:272460
HP:0004262	Abnormality of the capitate bone	54928	BPNT2	OMIM:614078
HP:0004262	Abnormality of the capitate bone	2261	FGFR3	OMIM:602849
HP:0004279	Short palm	3480	IGF1R	ORPHA:73273
HP:0004279	Short palm	4921	DDR2	OMIM:271665
HP:0004279	Short palm	22827	PUF60	ORPHA:508498
HP:0004279	Short palm	2245	FGD1	OMIM:305400
HP:0004279	Short palm	2245	FGD1	ORPHA:915
HP:0004279	Short palm	22856	CHSY1	ORPHA:363417
HP:0004279	Short palm	2879	GPX4	ORPHA:93317
HP:0004279	Short palm	124997	WDR81	OMIM:610185
HP:0004279	Short palm	9759	HDAC4	ORPHA:1001
HP:0004279	Short palm	118429	ANTXR2	ORPHA:2176
HP:0004279	Short palm	2261	FGFR3	ORPHA:53271
HP:0004279	Short palm	90459	ERI1	OMIM:620663
HP:0004279	Short palm	55777	MBD5	ORPHA:228402
HP:0004279	Short palm	55777	MBD5	OMIM:156200
HP:0004279	Short palm	100033413	SNORD116-1	OMIM:176270
HP:0004279	Short palm	8924	HERC2	OMIM:176270
HP:0004279	Short palm	23742	NPAP1	OMIM:176270
HP:0004279	Short palm	338433	SNORD115-1	OMIM:176270
HP:0004279	Short palm	54551	MAGEL2	OMIM:176270
HP:0004279	Short palm	7681	MKRN3	OMIM:176270
HP:0004279	Short palm	145624	PWAR1	OMIM:176270
HP:0004279	Short palm	3653	IPW	OMIM:176270
HP:0004279	Short palm	791114	PWRN1	OMIM:176270
HP:0004279	Short palm	9401	RECQL4	OMIM:268400
HP:0004279	Short palm	1302	COL11A2	OMIM:215150
HP:0004279	Short palm	55112	DYNC2I1	ORPHA:93271
HP:0004279	Short palm	57560	IFT80	ORPHA:93271
HP:0004279	Short palm	57539	WDR35	ORPHA:93271
HP:0004279	Short palm	79659	DYNC2H1	ORPHA:93271
HP:0004279	Short palm	89891	DYNC2I2	ORPHA:93271
HP:0004279	Short palm	613	BCR	ORPHA:261330
HP:0004279	Short palm	1399	CRKL	ORPHA:261330
HP:0004279	Short palm	5594	MAPK1	ORPHA:261330
HP:0004279	Short palm	23030	KDM4B	OMIM:619320
HP:0004279	Short palm	79639	TMEM53	OMIM:619727
HP:0004279	Short palm	55249	YY1AP1	ORPHA:79094
HP:0004279	Short palm	10982	MAPRE2	OMIM:616734
HP:0004279	Short palm	25782	RAB3GAP2	OMIM:212720
HP:0004279	Short palm	4750	NEK1	OMIM:252100
HP:0004279	Short palm	6023	RMRP	ORPHA:175
HP:0004279	Short palm	6023	RMRP	OMIM:607095
HP:0004279	Short palm	6023	RMRP	OMIM:250250
HP:0004279	Short palm	3549	IHH	ORPHA:63446
HP:0004279	Short palm	3549	IHH	OMIM:607778
HP:0004279	Short palm	3549	IHH	OMIM:112500
HP:0004279	Short palm	818	CAMK2G	OMIM:618522
HP:0004279	Short palm	4998	ORC1	OMIM:224690
HP:0004279	Short palm	80204	FBXO11	OMIM:618089
HP:0004279	Short palm	1778	DYNC1H1	OMIM:614563
HP:0004279	Short palm	23476	BRD4	OMIM:620568
HP:0004279	Short palm	2200	FBN1	ORPHA:969
HP:0004279	Short palm	2200	FBN1	OMIM:614185
HP:0004279	Short palm	2200	FBN1	OMIM:102370
HP:0004279	Short palm	4054	LTBP3	ORPHA:969
HP:0004279	Short palm	3759	KCNJ2	OMIM:170390
HP:0004279	Short palm	2260	FGFR1	ORPHA:93258
HP:0004279	Short palm	2260	FGFR1	OMIM:166250
HP:0004279	Short palm	2263	FGFR2	ORPHA:93258
HP:0004279	Short palm	5745	PTH1R	ORPHA:79106
HP:0004279	Short palm	222663	SCUBE3	OMIM:619184
HP:0004279	Short palm	80311	KLHL15	OMIM:300982
HP:0004279	Short palm	727857	BHLHA9	ORPHA:157801
HP:0004279	Short palm	10943	MSL3	OMIM:301032
HP:0004279	Short palm	633	BGN	OMIM:300106
HP:0004279	Short palm	1301	COL11A1	OMIM:228520
HP:0004279	Short palm	55012	PPP2R3C	OMIM:618419
HP:0004279	Short palm	5573	PRKAR1A	OMIM:101800
HP:0004279	Short palm	51715	RAB23	ORPHA:65759
HP:0004279	Short palm	1954	MEGF8	ORPHA:65759
HP:0004279	Short palm	25942	SIN3A	OMIM:613406
HP:0004279	Short palm	64374	SIL1	ORPHA:559
HP:0004279	Short palm	9487	PIGL	ORPHA:3474
HP:0004279	Short palm	9244	CRLF1	OMIM:272430
HP:0004279	Short palm	4000	LMNA	ORPHA:79474
HP:0004279	Short palm	2316	FLNA	ORPHA:90650
HP:0004279	Short palm	2316	FLNA	ORPHA:90652
HP:0004279	Short palm	9241	NOG	ORPHA:3237
HP:0004279	Short palm	8200	GDF5	ORPHA:3237
HP:0004279	Short palm	2254	FGF9	ORPHA:3237
HP:0004279	Short palm	6885	MAP3K7	ORPHA:3238
HP:0004279	Short palm	9321	TRIP11	ORPHA:166272
HP:0004279	Short palm	9321	TRIP11	ORPHA:93299
HP:0004279	Short palm	538	ATP7A	ORPHA:198
HP:0004279	Short palm	59341	TRPV4	OMIM:184095
HP:0004279	Short palm	6905	TBCE	OMIM:241410
HP:0004279	Short palm	6905	TBCE	OMIM:244460
HP:0004279	Short palm	145173	B3GLCT	OMIM:261540
HP:0004279	Short palm	1857	DVL3	ORPHA:3107
HP:0004279	Short palm	7474	WNT5A	ORPHA:3107
HP:0004279	Short palm	7474	WNT5A	OMIM:180700
HP:0004279	Short palm	1855	DVL1	ORPHA:3107
HP:0004279	Short palm	1855	DVL1	OMIM:180700
HP:0004279	Short palm	2535	FZD2	ORPHA:3107
HP:0004279	Short palm	2535	FZD2	ORPHA:93328
HP:0004279	Short palm	9791	PTDSS1	ORPHA:2658
HP:0004279	Short palm	132884	EVC2	OMIM:193530
HP:0004279	Short palm	2121	EVC	OMIM:193530
HP:0004279	Short palm	10013	HDAC6	ORPHA:163966
HP:0004279	Short palm	79753	SNIP1	OMIM:614501
HP:0004279	Short palm	9719	ADAMTSL2	OMIM:231050
HP:0004279	Short palm	4796	TONSL	ORPHA:93357
HP:0004279	Short palm	10236	HNRNPR	OMIM:620073
HP:0004279	Short palm	79718	TBL1XR1	OMIM:602342
HP:0004279	Short palm	6595	SMARCA2	ORPHA:3051
HP:0004279	Short palm	1298	COL9A2	OMIM:600204
HP:0004279	Short palm	3636	INPPL1	OMIM:258480
HP:0004279	Short palm	285590	SH3PXD2B	OMIM:249420
HP:0004279	Short palm	4089	SMAD4	OMIM:139210
HP:0004279	Short palm	4089	SMAD4	ORPHA:2588
HP:0004279	Short palm	5159	PDGFRB	OMIM:601812
HP:0004279	Short palm	23522	KAT6B	ORPHA:85201
HP:0004279	Short palm	7204	TRIO	ORPHA:476126
HP:0004279	Short palm	3845	KRAS	ORPHA:3339
HP:0004279	Short palm	28957	MRPS28	OMIM:618958
HP:0004279	Short palm	23261	CAMTA1	OMIM:614756
HP:0004279	Short palm	8450	CUL4B	ORPHA:85293
HP:0004279	Short palm	25839	COG4	ORPHA:85172
HP:0004279	Short palm	6925	TCF4	OMIM:610954
HP:0004279	Short palm	4920	ROR2	OMIM:268310
HP:0004279	Short palm	5295	PIK3R1	ORPHA:3163
HP:0004279	Short palm	8813	DPM1	OMIM:608799
HP:0004279	Short palm	10743	RAI1	OMIM:182290
HP:0004279	Short palm	8242	KDM5C	ORPHA:85279
HP:0004279	Short palm	89970	RSPRY1	ORPHA:457395
HP:0004279	Short palm	100151683	RNU4ATAC	ORPHA:2636
HP:0004279	Short palm	1280	COL2A1	ORPHA:85166
HP:0004279	Short palm	51322	WAC	ORPHA:466950
HP:0004279	Short palm	147372	CCBE1	OMIM:235510
HP:0004279	Short palm	29123	ANKRD11	OMIM:148050
HP:0004279	Short palm	2719	GPC3	OMIM:312870
HP:0004279	Short palm	2239	GPC4	OMIM:312870
HP:0004279	Short palm	7227	TRPS1	OMIM:190351
HP:0004279	Short palm	3516	RBPJ	OMIM:614814
HP:0004278	Synostosis involving bones of the hand	3549	IHH	OMIM:112500
HP:0004278	Synostosis involving bones of the hand	3549	IHH	ORPHA:93388
HP:0004278	Synostosis involving bones of the hand	5566	PRKACA	ORPHA:289
HP:0004278	Synostosis involving bones of the hand	5567	PRKACB	ORPHA:289
HP:0004278	Synostosis involving bones of the hand	2735	GLI1	ORPHA:289
HP:0004278	Synostosis involving bones of the hand	2121	EVC	ORPHA:289
HP:0004278	Synostosis involving bones of the hand	2121	EVC	OMIM:225500
HP:0004278	Synostosis involving bones of the hand	51626	DYNC2LI1	ORPHA:289
HP:0004278	Synostosis involving bones of the hand	132884	EVC2	ORPHA:289
HP:0004278	Synostosis involving bones of the hand	132884	EVC2	OMIM:225500
HP:0004278	Synostosis involving bones of the hand	64093	SMOC1	OMIM:206920
HP:0004278	Synostosis involving bones of the hand	538	ATP7A	OMIM:304150
HP:0004278	Synostosis involving bones of the hand	54928	BPNT2	OMIM:614078
HP:0004278	Synostosis involving bones of the hand	7021	TFAP2B	ORPHA:46627
HP:0004278	Synostosis involving bones of the hand	64359	NXN	ORPHA:1507
HP:0004278	Synostosis involving bones of the hand	4920	ROR2	ORPHA:1507
HP:0004278	Synostosis involving bones of the hand	64327	LMBR1	ORPHA:988
HP:0004278	Synostosis involving bones of the hand	6469	SHH	ORPHA:988
HP:0004278	Synostosis involving bones of the hand	157570	ESCO2	ORPHA:3103
HP:0004278	Synostosis involving bones of the hand	3209	HOXA13	ORPHA:2438
HP:0004278	Synostosis involving bones of the hand	9555	MACROH2A1	ORPHA:1275
HP:0004278	Synostosis involving bones of the hand	5307	PITX1	ORPHA:1275
HP:0004278	Synostosis involving bones of the hand	324	APC	ORPHA:3258
HP:0004278	Synostosis involving bones of the hand	2263	FGFR2	OMIM:101200
HP:0004278	Synostosis involving bones of the hand	8823	FGF16	OMIM:309630
HP:0004278	Synostosis involving bones of the hand	9775	EIF4A3	OMIM:268305
HP:0004278	Synostosis involving bones of the hand	9791	PTDSS1	OMIM:151050
HP:0004278	Synostosis involving bones of the hand	10084	PQBP1	OMIM:309500
HP:0004278	Synostosis involving bones of the hand	10262	SF3B4	OMIM:154400
HP:0004278	Synostosis involving bones of the hand	9898	UBAP2L	OMIM:620494
HP:0004278	Synostosis involving bones of the hand	9401	RECQL4	ORPHA:221016
HP:0004278	Synostosis involving bones of the hand	8200	GDF5	OMIM:610017
HP:0004278	Synostosis involving bones of the hand	64682	ANAPC1	ORPHA:221008
HP:0004278	Synostosis involving bones of the hand	3239	HOXD13	ORPHA:93406
HP:0004278	Synostosis involving bones of the hand	727857	BHLHA9	ORPHA:157801
HP:0004278	Synostosis involving bones of the hand	2192	FBLN1	OMIM:608180
HP:0004278	Synostosis involving bones of the hand	2254	FGF9	OMIM:612961
HP:0004278	Synostosis involving bones of the hand	4038	LRP4	OMIM:212780
HP:0004278	Synostosis involving bones of the hand	7291	TWIST1	ORPHA:35099
HP:0004278	Synostosis involving bones of the hand	2261	FGFR3	ORPHA:35099
HP:0004278	Synostosis involving bones of the hand	6938	TCF12	ORPHA:35099
HP:0004278	Synostosis involving bones of the hand	7545	ZIC1	ORPHA:35099
HP:0004278	Synostosis involving bones of the hand	5447	POR	ORPHA:95699
HP:0004278	Synostosis involving bones of the hand	4621	MYH3	OMIM:178110
HP:0004278	Synostosis involving bones of the hand	2316	FLNA	OMIM:305620
HP:0004278	Synostosis involving bones of the hand	2316	FLNA	ORPHA:90652
HP:0004278	Synostosis involving bones of the hand	9241	NOG	OMIM:186570
HP:0004278	Synostosis involving bones of the hand	9241	NOG	OMIM:611377
HP:0004278	Synostosis involving bones of the hand	9241	NOG	OMIM:186500
HP:0004278	Synostosis involving bones of the hand	9241	NOG	OMIM:185800
HP:0004278	Synostosis involving bones of the hand	85301	COL27A1	OMIM:615155
HP:0004278	Synostosis involving bones of the hand	57167	SALL4	OMIM:147750
HP:0004278	Synostosis involving bones of the hand	2317	FLNB	OMIM:272460
HP:0004278	Synostosis involving bones of the hand	9939	RBM8A	OMIM:274000
HP:0004278	Synostosis involving bones of the hand	22856	CHSY1	OMIM:605282
HP:0004278	Synostosis involving bones of the hand	5077	PAX3	OMIM:148820
HP:0004278	Synostosis involving bones of the hand	658	BMPR1B	OMIM:609441
HP:0004278	Synostosis involving bones of the hand	6885	MAP3K7	OMIM:157800
HP:0004278	Synostosis involving bones of the hand	126792	B3GALT6	OMIM:615349
HP:0004278	Synostosis involving bones of the hand	126792	B3GALT6	OMIM:271640
HP:0004278	Synostosis involving bones of the hand	4841	NONO	ORPHA:466791
HP:0004280	Irregular ossification of hand bones	5727	PTCH1	OMIM:109400
HP:0004281	Irregular sclerosis of hand bones	23592	LEMD3	ORPHA:166119
HP:0004281	Irregular sclerosis of hand bones	2697	GJA1	OMIM:218400
HP:0009699	Osteolytic defects of the hand bones	1281	COL3A1	OMIM:130050
HP:0009699	Osteolytic defects of the hand bones	64135	IFIH1	OMIM:182250
HP:0009699	Osteolytic defects of the hand bones	4000	LMNA	ORPHA:280365
HP:0009699	Osteolytic defects of the hand bones	4000	LMNA	ORPHA:79474
HP:0009699	Osteolytic defects of the hand bones	65125	WNK1	OMIM:201300
HP:0009699	Osteolytic defects of the hand bones	54463	RETREG1	OMIM:201300
HP:0009699	Osteolytic defects of the hand bones	54463	RETREG1	OMIM:613115
HP:0009699	Osteolytic defects of the hand bones	6335	SCN9A	OMIM:201300
HP:0009699	Osteolytic defects of the hand bones	547	KIF1A	OMIM:201300
HP:0009699	Osteolytic defects of the hand bones	1075	CTSC	OMIM:245010
HP:0009699	Osteolytic defects of the hand bones	10651	MTX2	OMIM:619127
HP:0009699	Osteolytic defects of the hand bones	4921	DDR2	OMIM:618175
HP:0009699	Osteolytic defects of the hand bones	23586	RIGI	OMIM:616298
HP:0009699	Osteolytic defects of the hand bones	25923	ATL3	OMIM:615632
HP:0009699	Osteolytic defects of the hand bones	427	ASAH1	OMIM:228000
HP:0009699	Osteolytic defects of the hand bones	2316	FLNA	OMIM:309350
HP:0009699	Osteolytic defects of the hand bones	2316	FLNA	ORPHA:2484
HP:0009699	Osteolytic defects of the hand bones	4853	NOTCH2	OMIM:102500
HP:0009699	Osteolytic defects of the hand bones	3248	HPGD	OMIM:259100
HP:0009699	Osteolytic defects of the hand bones	1513	CTSK	ORPHA:763
HP:0009699	Osteolytic defects of the hand bones	1513	CTSK	OMIM:265800
HP:0009699	Osteolytic defects of the hand bones	10269	ZMPSTE24	ORPHA:740
HP:0009699	Osteolytic defects of the hand bones	10269	ZMPSTE24	OMIM:608612
HP:0009699	Osteolytic defects of the hand bones	10269	ZMPSTE24	OMIM:275210
HP:0009699	Osteolytic defects of the hand bones	10269	ZMPSTE24	ORPHA:90154
HP:0009699	Osteolytic defects of the hand bones	8815	BANF1	OMIM:614008
HP:0009699	Osteolytic defects of the hand bones	5159	PDGFRB	OMIM:601812
HP:0004283	Narrow palm	6638	SNRPN	ORPHA:177910
HP:0004283	Narrow palm	4692	NDN	ORPHA:177910
HP:0004283	Narrow palm	54551	MAGEL2	ORPHA:177910
HP:0004283	Narrow palm	54551	MAGEL2	OMIM:615547
HP:0004283	Narrow palm	54551	MAGEL2	OMIM:176270
HP:0004283	Narrow palm	157680	VPS13B	ORPHA:193
HP:0004283	Narrow palm	157680	VPS13B	OMIM:216550
HP:0004283	Narrow palm	26053	AUTS2	ORPHA:352490
HP:0004283	Narrow palm	56896	DPYSL5	OMIM:619435
HP:0004283	Narrow palm	89910	UBE3B	OMIM:244450
HP:0004283	Narrow palm	2782	GNB1	OMIM:616973
HP:0004283	Narrow palm	6611	SMS	OMIM:309583
HP:0004283	Narrow palm	284058	KANSL1	OMIM:610443
HP:0004283	Narrow palm	9757	KMT2B	OMIM:619934
HP:0004283	Narrow palm	100033413	SNORD116-1	OMIM:176270
HP:0004283	Narrow palm	8924	HERC2	OMIM:176270
HP:0004283	Narrow palm	23742	NPAP1	OMIM:176270
HP:0004283	Narrow palm	338433	SNORD115-1	OMIM:176270
HP:0004283	Narrow palm	7681	MKRN3	OMIM:176270
HP:0004283	Narrow palm	145624	PWAR1	OMIM:176270
HP:0004283	Narrow palm	3653	IPW	OMIM:176270
HP:0004283	Narrow palm	791114	PWRN1	OMIM:176270
HP:0004286	Patchy sclerosis of hand bones	2697	GJA1	OMIM:218400
HP:0004288	Pseudoepiphyses of hand bones	90459	ERI1	OMIM:620662
HP:0004288	Pseudoepiphyses of hand bones	579	NKX3-2	OMIM:613330
HP:0004288	Pseudoepiphyses of hand bones	6299	SALL1	OMIM:107480
HP:0004288	Pseudoepiphyses of hand bones	25839	COG4	OMIM:618150
HP:0004288	Pseudoepiphyses of hand bones	5116	PCNT	OMIM:210720
HP:0004288	Pseudoepiphyses of hand bones	6197	RPS6KA3	ORPHA:192
HP:0004288	Pseudoepiphyses of hand bones	7468	NSD2	OMIM:194190
HP:0004288	Pseudoepiphyses of hand bones	10815	CPLX1	OMIM:194190
HP:0004288	Pseudoepiphyses of hand bones	1487	CTBP1	OMIM:194190
HP:0004288	Pseudoepiphyses of hand bones	53834	FGFRL1	OMIM:194190
HP:0004288	Pseudoepiphyses of hand bones	3954	LETM1	OMIM:194190
HP:0004288	Pseudoepiphyses of hand bones	8200	GDF5	OMIM:113100
HP:0004288	Pseudoepiphyses of hand bones	658	BMPR1B	ORPHA:93384
HP:0004288	Pseudoepiphyses of hand bones	3756	KCNH1	OMIM:611816
HP:0004288	Pseudoepiphyses of hand bones	4883	NPR3	OMIM:619543
HP:0004288	Pseudoepiphyses of hand bones	51715	RAB23	OMIM:201000
HP:0004289	Sclerotic foci in hand bones	23592	LEMD3	ORPHA:166119
HP:0004275	Duplication of hand bones	9851	KIAA0753	ORPHA:475
HP:0004275	Duplication of hand bones	9851	KIAA0753	ORPHA:2754
HP:0004275	Duplication of hand bones	5147	PDE6D	ORPHA:475
HP:0004275	Duplication of hand bones	5147	PDE6D	ORPHA:2754
HP:0004275	Duplication of hand bones	79600	TCTN1	ORPHA:475
HP:0004275	Duplication of hand bones	79848	CSPP1	ORPHA:475
HP:0004275	Duplication of hand bones	8481	OFD1	ORPHA:475
HP:0004275	Duplication of hand bones	8481	OFD1	ORPHA:2750
HP:0004275	Duplication of hand bones	8481	OFD1	ORPHA:2754
HP:0004275	Duplication of hand bones	51684	SUFU	ORPHA:475
HP:0004275	Duplication of hand bones	54806	AHI1	ORPHA:475
HP:0004275	Duplication of hand bones	54806	AHI1	ORPHA:220493
HP:0004275	Duplication of hand bones	153241	CEP120	ORPHA:475
HP:0004275	Duplication of hand bones	153241	CEP120	ORPHA:220493
HP:0004275	Duplication of hand bones	65250	CPLANE1	ORPHA:475
HP:0004275	Duplication of hand bones	65250	CPLANE1	ORPHA:2754
HP:0004275	Duplication of hand bones	91147	TMEM67	ORPHA:475
HP:0004275	Duplication of hand bones	200894	ARL13B	ORPHA:475
HP:0004275	Duplication of hand bones	9731	CEP104	ORPHA:475
HP:0004275	Duplication of hand bones	219844	HYLS1	ORPHA:475
HP:0004275	Duplication of hand bones	23247	KATNIP	ORPHA:475
HP:0004275	Duplication of hand bones	219854	TMEM218	ORPHA:475
HP:0004275	Duplication of hand bones	54903	MKS1	ORPHA:475
HP:0004275	Duplication of hand bones	54903	MKS1	ORPHA:220493
HP:0004275	Duplication of hand bones	95681	CEP41	ORPHA:475
HP:0004275	Duplication of hand bones	95681	CEP41	ORPHA:220493
HP:0004275	Duplication of hand bones	9786	KIAA0586	ORPHA:475
HP:0004275	Duplication of hand bones	56623	INPP5E	ORPHA:475
HP:0004275	Duplication of hand bones	56623	INPP5E	ORPHA:220493
HP:0004275	Duplication of hand bones	26123	TCTN3	ORPHA:475
HP:0004275	Duplication of hand bones	26123	TCTN3	ORPHA:2754
HP:0004275	Duplication of hand bones	26123	TCTN3	OMIM:258860
HP:0004275	Duplication of hand bones	79867	TCTN2	ORPHA:475
HP:0004275	Duplication of hand bones	80776	B9D2	ORPHA:475
HP:0004275	Duplication of hand bones	10464	PIBF1	ORPHA:475
HP:0004275	Duplication of hand bones	80210	ARMC9	ORPHA:475
HP:0004275	Duplication of hand bones	23116	TOGARAM1	ORPHA:475
HP:0004275	Duplication of hand bones	25776	CBY1	ORPHA:475
HP:0004275	Duplication of hand bones	27077	B9D1	ORPHA:475
HP:0004275	Duplication of hand bones	403	ARL3	ORPHA:475
HP:0004275	Duplication of hand bones	80173	IFT74	ORPHA:475
HP:0004275	Duplication of hand bones	65062	TMEM237	ORPHA:475
HP:0004275	Duplication of hand bones	65062	TMEM237	ORPHA:220497
HP:0004275	Duplication of hand bones	65062	TMEM237	ORPHA:2318
HP:0004275	Duplication of hand bones	10682	EBP	ORPHA:401973
HP:0004275	Duplication of hand bones	64840	PORCN	ORPHA:2092
HP:0004275	Duplication of hand bones	5626	PROP1	ORPHA:226307
HP:0004275	Duplication of hand bones	89884	LHX4	ORPHA:226307
HP:0004275	Duplication of hand bones	8022	LHX3	ORPHA:226307
HP:0004275	Duplication of hand bones	5449	POU1F1	ORPHA:226307
HP:0004275	Duplication of hand bones	8820	HESX1	ORPHA:226307
HP:0004275	Duplication of hand bones	1947	EFNB1	ORPHA:1520
HP:0004275	Duplication of hand bones	5290	PIK3CA	ORPHA:60040
HP:0004275	Duplication of hand bones	10908	PNPLA6	ORPHA:2377
HP:0004275	Duplication of hand bones	51	ACOX1	ORPHA:2971
HP:0004275	Duplication of hand bones	7547	ZIC3	OMIM:314390
HP:0004275	Duplication of hand bones	2187	FANCB	OMIM:314390
HP:0004275	Duplication of hand bones	23322	RPGRIP1L	ORPHA:220497
HP:0004275	Duplication of hand bones	4867	NPHP1	ORPHA:220497
HP:0004275	Duplication of hand bones	641	BLM	OMIM:210900
HP:0004275	Duplication of hand bones	2314	FLII	ORPHA:819
HP:0004275	Duplication of hand bones	23096	IQSEC2	ORPHA:819
HP:0004275	Duplication of hand bones	10743	RAI1	ORPHA:819
HP:0004275	Duplication of hand bones	10522	DEAF1	ORPHA:819
HP:0004275	Duplication of hand bones	26154	ABCA12	ORPHA:457
HP:0004275	Duplication of hand bones	8241	RBM10	ORPHA:2886
HP:0004275	Duplication of hand bones	7021	TFAP2B	ORPHA:46627
HP:0004275	Duplication of hand bones	10225	CD96	ORPHA:1308
HP:0004275	Duplication of hand bones	4750	NEK1	ORPHA:2751
HP:0004275	Duplication of hand bones	1312	COMT	ORPHA:567
HP:0004275	Duplication of hand bones	221037	JMJD1C	ORPHA:567
HP:0004275	Duplication of hand bones	2812	GP1BB	ORPHA:567
HP:0004275	Duplication of hand bones	6239	RREB1	ORPHA:567
HP:0004275	Duplication of hand bones	6899	TBX1	ORPHA:567
HP:0004275	Duplication of hand bones	7290	HIRA	ORPHA:567
HP:0004275	Duplication of hand bones	9632	SEC24C	ORPHA:567
HP:0004275	Duplication of hand bones	7353	UFD1	ORPHA:567
HP:0004275	Duplication of hand bones	421	ARVCF	ORPHA:567
HP:0004275	Duplication of hand bones	79583	TMEM231	ORPHA:2318
HP:0004275	Duplication of hand bones	79583	TMEM231	ORPHA:2754
HP:0004275	Duplication of hand bones	51524	TMEM138	ORPHA:2318
HP:0004275	Duplication of hand bones	23090	ZNF423	ORPHA:2318
HP:0004275	Duplication of hand bones	80184	CEP290	ORPHA:2318
HP:0004275	Duplication of hand bones	51259	TMEM216	ORPHA:2318
HP:0004275	Duplication of hand bones	51259	TMEM216	ORPHA:2754
HP:0004275	Duplication of hand bones	57545	CC2D2A	ORPHA:2318
HP:0004275	Duplication of hand bones	2697	GJA1	ORPHA:2710
HP:0004275	Duplication of hand bones	10210	TOPORS	ORPHA:2754
HP:0004275	Duplication of hand bones	317662	FAM149B1	ORPHA:2754
HP:0004275	Duplication of hand bones	374654	KIF7	ORPHA:2754
HP:0004275	Duplication of hand bones	64327	LMBR1	OMIM:135750
HP:0004275	Duplication of hand bones	64327	LMBR1	ORPHA:93405
HP:0004275	Duplication of hand bones	9897	WASHC5	ORPHA:7
HP:0004275	Duplication of hand bones	28952	CCDC22	ORPHA:7
HP:0004275	Duplication of hand bones	57020	VPS35L	ORPHA:7
HP:0004275	Duplication of hand bones	56896	DPYSL5	ORPHA:7
HP:0004275	Duplication of hand bones	5566	PRKACA	ORPHA:289
HP:0004275	Duplication of hand bones	5567	PRKACB	ORPHA:289
HP:0004275	Duplication of hand bones	2735	GLI1	ORPHA:289
HP:0004275	Duplication of hand bones	2121	EVC	ORPHA:289
HP:0004275	Duplication of hand bones	51626	DYNC2LI1	ORPHA:289
HP:0004275	Duplication of hand bones	132884	EVC2	ORPHA:289
HP:0004275	Duplication of hand bones	25970	SH2B1	ORPHA:261197
HP:0004275	Duplication of hand bones	5728	PTEN	ORPHA:65285
HP:0004275	Duplication of hand bones	6469	SHH	ORPHA:93405
HP:0004275	Duplication of hand bones	55636	CHD7	OMIM:214800
HP:0004275	Duplication of hand bones	2313	FLI1	ORPHA:2308
HP:0004275	Duplication of hand bones	6309	SC5D	ORPHA:46059
HP:0004275	Duplication of hand bones	6309	SC5D	OMIM:607330
HP:0004275	Duplication of hand bones	894	CCND2	ORPHA:83473
HP:0004275	Duplication of hand bones	894	CCND2	OMIM:615938
HP:0004275	Duplication of hand bones	5296	PIK3R2	ORPHA:83473
HP:0004275	Duplication of hand bones	10000	AKT3	ORPHA:83473
HP:0004275	Duplication of hand bones	10000	AKT3	OMIM:615937
HP:0004275	Duplication of hand bones	26160	IFT172	OMIM:615630
HP:0004275	Duplication of hand bones	26160	IFT172	ORPHA:474
HP:0004275	Duplication of hand bones	26160	IFT172	OMIM:619471
HP:0004275	Duplication of hand bones	54585	LZTFL1	OMIM:615994
HP:0004275	Duplication of hand bones	57539	WDR35	OMIM:613610
HP:0004275	Duplication of hand bones	57539	WDR35	ORPHA:93271
HP:0004275	Duplication of hand bones	8195	MKKS	OMIM:236700
HP:0004275	Duplication of hand bones	8195	MKKS	ORPHA:2473
HP:0004275	Duplication of hand bones	55593	OTUD5	OMIM:301056
HP:0004275	Duplication of hand bones	55112	DYNC2I1	ORPHA:93271
HP:0004275	Duplication of hand bones	55112	DYNC2I1	ORPHA:474
HP:0004275	Duplication of hand bones	57560	IFT80	ORPHA:93271
HP:0004275	Duplication of hand bones	57560	IFT80	ORPHA:474
HP:0004275	Duplication of hand bones	57560	IFT80	OMIM:611263
HP:0004275	Duplication of hand bones	79659	DYNC2H1	ORPHA:93271
HP:0004275	Duplication of hand bones	79659	DYNC2H1	ORPHA:474
HP:0004275	Duplication of hand bones	89891	DYNC2I2	ORPHA:93271
HP:0004275	Duplication of hand bones	89891	DYNC2I2	ORPHA:474
HP:0004275	Duplication of hand bones	83479	DDX59	OMIM:174300
HP:0004275	Duplication of hand bones	83479	DDX59	ORPHA:2919
HP:0004275	Duplication of hand bones	4149	MAX	OMIM:620712
HP:0004275	Duplication of hand bones	1717	DHCR7	ORPHA:818
HP:0004275	Duplication of hand bones	1717	DHCR7	OMIM:270400
HP:0004275	Duplication of hand bones	6926	TBX3	ORPHA:3138
HP:0004275	Duplication of hand bones	6926	TBX3	OMIM:181450
HP:0004275	Duplication of hand bones	7476	WNT7A	OMIM:228930
HP:0004275	Duplication of hand bones	83871	RAB34	OMIM:620718
HP:0004275	Duplication of hand bones	84100	ARL6	OMIM:209900
HP:0004275	Duplication of hand bones	79140	CCDC28B	OMIM:209900
HP:0004275	Duplication of hand bones	582	BBS1	OMIM:209900
HP:0004275	Duplication of hand bones	51057	WDPCP	OMIM:217085
HP:0004275	Duplication of hand bones	3209	HOXA13	ORPHA:2438
HP:0004275	Duplication of hand bones	3209	HOXA13	OMIM:176305
HP:0004275	Duplication of hand bones	64093	SMOC1	ORPHA:1106
HP:0004275	Duplication of hand bones	64093	SMOC1	OMIM:206920
HP:0004275	Duplication of hand bones	84314	TMEM107	ORPHA:564
HP:0004275	Duplication of hand bones	84314	TMEM107	OMIM:617563
HP:0004275	Duplication of hand bones	57096	RPGRIP1	ORPHA:564
HP:0004275	Duplication of hand bones	79770	TXNDC15	ORPHA:564
HP:0004275	Duplication of hand bones	79770	TXNDC15	OMIM:619879
HP:0004275	Duplication of hand bones	285600	KIAA0825	OMIM:618498
HP:0004275	Duplication of hand bones	8200	GDF5	OMIM:113100
HP:0004275	Duplication of hand bones	8200	GDF5	OMIM:200700
HP:0004275	Duplication of hand bones	8200	GDF5	ORPHA:2098
HP:0004275	Duplication of hand bones	51715	RAB23	ORPHA:65759
HP:0004275	Duplication of hand bones	51715	RAB23	OMIM:201000
HP:0004275	Duplication of hand bones	1954	MEGF8	ORPHA:65759
HP:0004275	Duplication of hand bones	26005	C2CD3	OMIM:615948
HP:0004275	Duplication of hand bones	26005	C2CD3	ORPHA:434179
HP:0004275	Duplication of hand bones	26040	SETBP1	OMIM:269150
HP:0004275	Duplication of hand bones	9742	IFT140	ORPHA:474
HP:0004275	Duplication of hand bones	9742	IFT140	OMIM:266920
HP:0004275	Duplication of hand bones	57728	WDR19	ORPHA:474
HP:0004275	Duplication of hand bones	79809	TTC21B	ORPHA:474
HP:0004275	Duplication of hand bones	79005	SCNM1	OMIM:620107
HP:0004275	Duplication of hand bones	658	BMPR1B	ORPHA:2098
HP:0004275	Duplication of hand bones	54499	TMCO1	OMIM:213980
HP:0004275	Duplication of hand bones	2736	GLI2	OMIM:610829
HP:0004275	Duplication of hand bones	51360	MBTPS2	OMIM:308205
HP:0004275	Duplication of hand bones	51360	MBTPS2	ORPHA:85284
HP:0004275	Duplication of hand bones	9373	PLAA	ORPHA:521426
HP:0004275	Duplication of hand bones	3930	LBR	OMIM:215140
HP:0004275	Duplication of hand bones	2239	GPC4	ORPHA:373
HP:0004275	Duplication of hand bones	2239	GPC4	OMIM:312870
HP:0004275	Duplication of hand bones	2719	GPC3	ORPHA:373
HP:0004275	Duplication of hand bones	2719	GPC3	OMIM:312870
HP:0004275	Duplication of hand bones	727857	BHLHA9	ORPHA:3329
HP:0004275	Duplication of hand bones	6910	TBX5	OMIM:142900
HP:0004275	Duplication of hand bones	257	ALX3	OMIM:136760
HP:0004275	Duplication of hand bones	23288	IQCE	OMIM:617642
HP:0004275	Duplication of hand bones	583	BBS2	OMIM:615981
HP:0004275	Duplication of hand bones	137392	CIBAR1	OMIM:618219
HP:0004275	Duplication of hand bones	7700	ZNF141	OMIM:615226
HP:0004275	Duplication of hand bones	7046	TGFBR1	OMIM:609192
HP:0004275	Duplication of hand bones	166379	BBS12	OMIM:615989
HP:0004275	Duplication of hand bones	27241	BBS9	OMIM:615986
HP:0004275	Duplication of hand bones	157657	CFAP418	OMIM:617406
HP:0004275	Duplication of hand bones	255758	DYNLT2B	OMIM:617405
HP:0004275	Duplication of hand bones	57167	SALL4	ORPHA:233
HP:0004275	Duplication of hand bones	57167	SALL4	ORPHA:959
HP:0004275	Duplication of hand bones	57167	SALL4	ORPHA:2307
HP:0004275	Duplication of hand bones	9935	MAFB	ORPHA:233
HP:0004275	Duplication of hand bones	1123	CHN1	ORPHA:233
HP:0004275	Duplication of hand bones	2137	EXTL3	ORPHA:508533
HP:0004275	Duplication of hand bones	55027	HEATR3	OMIM:620072
HP:0004275	Duplication of hand bones	6299	SALL1	OMIM:107480
HP:0004275	Duplication of hand bones	6299	SALL1	ORPHA:857
HP:0004275	Duplication of hand bones	374879	ZNF699	OMIM:619488
HP:0004275	Duplication of hand bones	8318	CDC45	OMIM:617063
HP:0004275	Duplication of hand bones	220296	HEPACAM	ORPHA:210548
HP:0004275	Duplication of hand bones	51339	DACT1	ORPHA:857
HP:0004275	Duplication of hand bones	57688	ZSWIM6	OMIM:603671
HP:0004275	Duplication of hand bones	2177	FANCD2	OMIM:227646
HP:0004275	Duplication of hand bones	23133	PHF8	ORPHA:85287
HP:0004275	Duplication of hand bones	3239	HOXD13	ORPHA:887
HP:0004275	Duplication of hand bones	7020	TFAP2A	OMIM:113620
HP:0004275	Duplication of hand bones	7020	TFAP2A	ORPHA:1297
HP:0004275	Duplication of hand bones	10815	CPLX1	ORPHA:280
HP:0004275	Duplication of hand bones	10815	CPLX1	OMIM:194190
HP:0004275	Duplication of hand bones	54872	PIGG	ORPHA:280
HP:0004275	Duplication of hand bones	7469	NELFA	ORPHA:280
HP:0004275	Duplication of hand bones	1487	CTBP1	ORPHA:280
HP:0004275	Duplication of hand bones	1487	CTBP1	OMIM:194190
HP:0004275	Duplication of hand bones	3954	LETM1	ORPHA:280
HP:0004275	Duplication of hand bones	3954	LETM1	OMIM:194190
HP:0004275	Duplication of hand bones	7468	NSD2	ORPHA:280
HP:0004275	Duplication of hand bones	7468	NSD2	OMIM:194190
HP:0004275	Duplication of hand bones	53834	FGFRL1	OMIM:194190
HP:0004275	Duplication of hand bones	9343	EFTUD2	OMIM:610536
HP:0004275	Duplication of hand bones	9343	EFTUD2	ORPHA:79113
HP:0004275	Duplication of hand bones	2316	FLNA	OMIM:311300
HP:0004275	Duplication of hand bones	2317	FLNB	OMIM:150250
HP:0004275	Duplication of hand bones	2317	FLNB	ORPHA:503
HP:0004275	Duplication of hand bones	8626	TP63	ORPHA:1896
HP:0004275	Duplication of hand bones	11020	IFT27	OMIM:615996
HP:0004275	Duplication of hand bones	51776	MAP3K20	OMIM:616890
HP:0004275	Duplication of hand bones	55012	PPP2R3C	OMIM:618419
HP:0004275	Duplication of hand bones	5053	PAH	ORPHA:2209
HP:0004275	Duplication of hand bones	124583	CANT1	OMIM:251450
HP:0004275	Duplication of hand bones	100151683	RNU4ATAC	OMIM:210710
HP:0004275	Duplication of hand bones	4920	ROR2	OMIM:268310
HP:0004275	Duplication of hand bones	7474	WNT5A	OMIM:180700
HP:0004275	Duplication of hand bones	1855	DVL1	OMIM:180700
HP:0004275	Duplication of hand bones	2703	GJA8	OMIM:612474
HP:0004275	Duplication of hand bones	2702	GJA5	OMIM:612474
HP:0004275	Duplication of hand bones	29089	UBE2T	OMIM:616435
HP:0004275	Duplication of hand bones	2261	FGFR3	OMIM:620192
HP:0004275	Duplication of hand bones	2261	FGFR3	ORPHA:2363
HP:0004275	Duplication of hand bones	2263	FGFR2	ORPHA:2363
HP:0004275	Duplication of hand bones	2255	FGF10	ORPHA:2363
HP:0004275	Duplication of hand bones	2176	FANCC	OMIM:227645
HP:0004275	Duplication of hand bones	6608	SMO	OMIM:601707
HP:0004275	Duplication of hand bones	22856	CHSY1	ORPHA:363417
HP:0004275	Duplication of hand bones	71	ACTG1	ORPHA:2995
HP:0004275	Duplication of hand bones	60	ACTB	ORPHA:2995
HP:0004275	Duplication of hand bones	2737	GLI3	OMIM:174700
HP:0004275	Duplication of hand bones	2178	FANCE	OMIM:600901
HP:0004275	Duplication of hand bones	157570	ESCO2	ORPHA:3103
HP:0004275	Duplication of hand bones	6472	SHMT2	OMIM:619121
HP:0004275	Duplication of hand bones	8260	NAA10	ORPHA:568
HP:0004275	Duplication of hand bones	54880	BCOR	ORPHA:568
HP:0004275	Duplication of hand bones	2175	FANCA	OMIM:227650
HP:0004275	Duplication of hand bones	6138	RPL15	ORPHA:124
HP:0004275	Duplication of hand bones	6224	RPS20	ORPHA:124
HP:0004275	Duplication of hand bones	6165	RPL35A	ORPHA:124
HP:0004275	Duplication of hand bones	6132	RPL8	ORPHA:124
HP:0004275	Duplication of hand bones	6223	RPS19	ORPHA:124
HP:0004275	Duplication of hand bones	6223	RPS19	OMIM:105650
HP:0004275	Duplication of hand bones	6232	RPS27	ORPHA:124
HP:0004275	Duplication of hand bones	6160	RPL31	ORPHA:124
HP:0004275	Duplication of hand bones	6201	RPS7	ORPHA:124
HP:0004275	Duplication of hand bones	6155	RPL27	ORPHA:124
HP:0004275	Duplication of hand bones	6234	RPS28	ORPHA:124
HP:0004275	Duplication of hand bones	6135	RPL11	ORPHA:124
HP:0004275	Duplication of hand bones	6229	RPS24	ORPHA:124
HP:0004275	Duplication of hand bones	6125	RPL5	ORPHA:124
HP:0004275	Duplication of hand bones	6204	RPS10	ORPHA:124
HP:0004275	Duplication of hand bones	2623	GATA1	ORPHA:124
HP:0004275	Duplication of hand bones	6133	RPL9	ORPHA:124
HP:0004275	Duplication of hand bones	6231	RPS26	ORPHA:124
HP:0004275	Duplication of hand bones	11224	RPL35	ORPHA:124
HP:0004275	Duplication of hand bones	6218	RPS17	ORPHA:124
HP:0004275	Duplication of hand bones	6154	RPL26	ORPHA:124
HP:0004275	Duplication of hand bones	6210	RPS15A	ORPHA:124
HP:0004275	Duplication of hand bones	90121	TSR2	ORPHA:124
HP:0004275	Duplication of hand bones	6141	RPL18	ORPHA:124
HP:0004275	Duplication of hand bones	6235	RPS29	ORPHA:124
HP:0004275	Duplication of hand bones	51816	ADA2	ORPHA:124
HP:0004275	Duplication of hand bones	57122	NUP107	OMIM:616730
HP:0004275	Duplication of hand bones	57122	NUP107	OMIM:618348
HP:0004275	Duplication of hand bones	10992	SF3B2	OMIM:164210
HP:0004275	Duplication of hand bones	27152	INTU	OMIM:617926
HP:0004275	Duplication of hand bones	7291	TWIST1	OMIM:101400
HP:0004275	Duplication of hand bones	22827	PUF60	ORPHA:508498
HP:0004275	Duplication of hand bones	23592	LEMD3	ORPHA:1879
HP:0001030	Fragile skin	5317	PKP1	OMIM:604536
HP:0001030	Fragile skin	5317	PKP1	ORPHA:158668
HP:0001030	Fragile skin	1832	DSP	ORPHA:158687
HP:0001030	Fragile skin	1832	DSP	OMIM:605676
HP:0001030	Fragile skin	3728	JUP	ORPHA:158687
HP:0001030	Fragile skin	3728	JUP	OMIM:601214
HP:0001030	Fragile skin	716	C1S	OMIM:617174
HP:0001030	Fragile skin	3691	ITGB4	OMIM:226730
HP:0001030	Fragile skin	3691	ITGB4	ORPHA:158684
HP:0001030	Fragile skin	3691	ITGB4	ORPHA:251393
HP:0001030	Fragile skin	5339	PLEC	OMIM:226730
HP:0001030	Fragile skin	5339	PLEC	ORPHA:158684
HP:0001030	Fragile skin	5339	PLEC	OMIM:612138
HP:0001030	Fragile skin	5339	PLEC	ORPHA:79401
HP:0001030	Fragile skin	5566	PRKACA	OMIM:615830
HP:0001030	Fragile skin	3675	ITGA3	OMIM:614748
HP:0001030	Fragile skin	3909	LAMA3	ORPHA:79404
HP:0001030	Fragile skin	3918	LAMC2	ORPHA:79404
HP:0001030	Fragile skin	3914	LAMB3	ORPHA:79404
HP:0001030	Fragile skin	1294	COL7A1	OMIM:604129
HP:0001030	Fragile skin	1294	COL7A1	ORPHA:79408
HP:0001030	Fragile skin	1294	COL7A1	ORPHA:79409
HP:0001030	Fragile skin	1294	COL7A1	OMIM:226600
HP:0001030	Fragile skin	1294	COL7A1	ORPHA:158676
HP:0001030	Fragile skin	1294	COL7A1	ORPHA:89842
HP:0001030	Fragile skin	1294	COL7A1	ORPHA:158673
HP:0001030	Fragile skin	1294	COL7A1	ORPHA:79410
HP:0001030	Fragile skin	1294	COL7A1	ORPHA:79411
HP:0001030	Fragile skin	1294	COL7A1	OMIM:132000
HP:0001030	Fragile skin	1294	COL7A1	ORPHA:231568
HP:0001030	Fragile skin	1294	COL7A1	OMIM:131705
HP:0001030	Fragile skin	1308	COL17A1	ORPHA:79406
HP:0001030	Fragile skin	1308	COL17A1	ORPHA:251393
HP:0001030	Fragile skin	113189	CHST14	OMIM:601776
HP:0001030	Fragile skin	4312	MMP1	ORPHA:79408
HP:0001030	Fragile skin	715	C1R	OMIM:130080
HP:0001030	Fragile skin	831	CAST	OMIM:616295
HP:0001030	Fragile skin	1289	COL5A1	OMIM:130000
HP:0001030	Fragile skin	1289	COL5A1	ORPHA:287
HP:0001030	Fragile skin	1278	COL1A2	OMIM:617821
HP:0001030	Fragile skin	55612	FERMT1	OMIM:173650
HP:0001030	Fragile skin	126792	B3GALT6	OMIM:271640
HP:0001030	Fragile skin	1281	COL3A1	OMIM:130050
HP:0001030	Fragile skin	1290	COL5A2	OMIM:130010
HP:0001030	Fragile skin	1290	COL5A2	ORPHA:287
HP:0001030	Fragile skin	5351	PLOD1	ORPHA:1900
HP:0001030	Fragile skin	5498	PPOX	OMIM:620483
HP:0001030	Fragile skin	7389	UROD	ORPHA:95159
HP:0001030	Fragile skin	7389	UROD	OMIM:176100
HP:0001030	Fragile skin	1277	COL1A1	ORPHA:287
HP:0001030	Fragile skin	9509	ADAMTS2	OMIM:225410
HP:0001030	Fragile skin	5159	PDGFRB	OMIM:616592
HP:0001030	Fragile skin	23086	EXPH5	OMIM:615028
HP:0001030	Fragile skin	3848	KRT1	OMIM:146590
HP:0001030	Fragile skin	7286	TUFT1	OMIM:620415
HP:0001030	Fragile skin	1371	CPOX	ORPHA:79273
HP:0001030	Fragile skin	3852	KRT5	ORPHA:79396
HP:0001030	Fragile skin	3861	KRT14	ORPHA:79396
HP:0001030	Fragile skin	7390	UROS	ORPHA:79277
HP:0001030	Fragile skin	2623	GATA1	ORPHA:79277
HP:0001031	Subcutaneous lipoma	5728	PTEN	OMIM:158350
HP:0001031	Subcutaneous lipoma	5728	PTEN	ORPHA:2969
HP:0001031	Subcutaneous lipoma	5728	PTEN	ORPHA:79076
HP:0001031	Subcutaneous lipoma	4221	MEN1	OMIM:131100
HP:0001031	Subcutaneous lipoma	2260	FGFR1	OMIM:613001
HP:0001031	Subcutaneous lipoma	5290	PIK3CA	OMIM:615108
HP:0001031	Subcutaneous lipoma	207	AKT1	OMIM:615109
HP:0001031	Subcutaneous lipoma	657	BMPR1A	ORPHA:79076
HP:0001031	Subcutaneous lipoma	1027	CDKN1B	ORPHA:276152
HP:0001032	Absent distal interphalangeal creases	7169	TPM2	OMIM:108120
HP:0001032	Absent distal interphalangeal creases	4010	LMX1B	OMIM:161200
HP:0001032	Absent distal interphalangeal creases	3549	IHH	OMIM:112500
HP:0001032	Absent distal interphalangeal creases	3239	HOXD13	OMIM:186300
HP:0001032	Absent distal interphalangeal creases	170689	ADAMTS15	OMIM:620545
HP:0001032	Absent distal interphalangeal creases	11011	TLK2	OMIM:618050
HP:0001032	Absent distal interphalangeal creases	5932	RBBP8	OMIM:251255
HP:0001033	Facial flushing after alcohol intake	217	ALDH2	OMIM:610251
HP:0011368	Epidermal thickening	9509	ADAMTS2	OMIM:225410
HP:0011368	Epidermal thickening	3767	KCNJ11	ORPHA:552
HP:0011368	Epidermal thickening	8462	KLF11	ORPHA:552
HP:0011368	Epidermal thickening	2645	GCK	ORPHA:552
HP:0011368	Epidermal thickening	26060	APPL1	ORPHA:552
HP:0011368	Epidermal thickening	640	BLK	ORPHA:552
HP:0011368	Epidermal thickening	1056	CEL	ORPHA:552
HP:0011368	Epidermal thickening	4760	NEUROD1	ORPHA:552
HP:0011368	Epidermal thickening	3651	PDX1	ORPHA:552
HP:0011368	Epidermal thickening	6833	ABCC8	ORPHA:552
HP:0011368	Epidermal thickening	5078	PAX4	ORPHA:552
HP:0011368	Epidermal thickening	3172	HNF4A	ORPHA:552
HP:0011368	Epidermal thickening	6927	HNF1A	ORPHA:552
HP:0011368	Epidermal thickening	3630	INS	ORPHA:552
HP:0011368	Epidermal thickening	699	BUB1	OMIM:620183
HP:0011368	Epidermal thickening	11198	SUPT16H	ORPHA:261229
HP:0011368	Epidermal thickening	57680	CHD8	ORPHA:261229
HP:0011368	Epidermal thickening	7840	ALMS1	ORPHA:64
HP:0011368	Epidermal thickening	7840	ALMS1	OMIM:203800
HP:0011368	Epidermal thickening	3643	INSR	OMIM:262190
HP:0011368	Epidermal thickening	3643	INSR	ORPHA:508
HP:0011368	Epidermal thickening	3643	INSR	OMIM:246200
HP:0011368	Epidermal thickening	3643	INSR	ORPHA:769
HP:0011368	Epidermal thickening	286053	NSMCE2	OMIM:617253
HP:0011368	Epidermal thickening	2261	FGFR3	OMIM:616482
HP:0011368	Epidermal thickening	2261	FGFR3	OMIM:612247
HP:0011368	Epidermal thickening	2261	FGFR3	ORPHA:93274
HP:0011368	Epidermal thickening	2261	FGFR3	ORPHA:93262
HP:0011368	Epidermal thickening	2261	FGFR3	OMIM:146000
HP:0011368	Epidermal thickening	2261	FGFR3	ORPHA:85165
HP:0011368	Epidermal thickening	2261	FGFR3	ORPHA:1860
HP:0011368	Epidermal thickening	2261	FGFR3	ORPHA:15
HP:0011368	Epidermal thickening	26580	BSCL2	OMIM:269700
HP:0011368	Epidermal thickening	26580	BSCL2	ORPHA:363400
HP:0011368	Epidermal thickening	26580	BSCL2	ORPHA:528
HP:0011368	Epidermal thickening	5122	PCSK1	ORPHA:71528
HP:0011368	Epidermal thickening	4160	MC4R	ORPHA:71529
HP:0011368	Epidermal thickening	3991	LIPE	ORPHA:435660
HP:0011368	Epidermal thickening	3991	LIPE	OMIM:615980
HP:0011368	Epidermal thickening	3290	HSD11B1	OMIM:614662
HP:0011368	Epidermal thickening	91461	PKDCC	OMIM:618821
HP:0011368	Epidermal thickening	63924	CIDEC	OMIM:615238
HP:0011368	Epidermal thickening	63924	CIDEC	ORPHA:435651
HP:0011368	Epidermal thickening	5443	POMC	ORPHA:71526
HP:0011368	Epidermal thickening	857	CAV1	OMIM:612526
HP:0011368	Epidermal thickening	857	CAV1	ORPHA:528
HP:0011368	Epidermal thickening	857	CAV1	OMIM:606721
HP:0011368	Epidermal thickening	5189	PEX1	ORPHA:3220
HP:0011368	Epidermal thickening	5190	PEX6	ORPHA:3220
HP:0011368	Epidermal thickening	2099	ESR1	ORPHA:785
HP:0011368	Epidermal thickening	2099	ESR1	OMIM:615363
HP:0011368	Epidermal thickening	27125	AFF4	ORPHA:444077
HP:0011368	Epidermal thickening	5346	PLIN1	ORPHA:280356
HP:0011368	Epidermal thickening	5346	PLIN1	OMIM:613877
HP:0011368	Epidermal thickening	5468	PPARG	OMIM:604367
HP:0011368	Epidermal thickening	5468	PPARG	ORPHA:79083
HP:0011368	Epidermal thickening	5468	PPARG	ORPHA:528
HP:0011368	Epidermal thickening	3728	JUP	ORPHA:34217
HP:0011368	Epidermal thickening	2263	FGFR2	ORPHA:1555
HP:0011368	Epidermal thickening	2263	FGFR2	OMIM:123790
HP:0011368	Epidermal thickening	2263	FGFR2	ORPHA:207
HP:0011368	Epidermal thickening	23187	PHLDB1	OMIM:620639
HP:0011368	Epidermal thickening	150	ADRA2A	OMIM:620679
HP:0011368	Epidermal thickening	8450	CUL4B	ORPHA:85293
HP:0011368	Epidermal thickening	4000	LMNA	OMIM:248370
HP:0011368	Epidermal thickening	4000	LMNA	ORPHA:280365
HP:0011368	Epidermal thickening	4000	LMNA	ORPHA:79084
HP:0011368	Epidermal thickening	4000	LMNA	OMIM:151660
HP:0011368	Epidermal thickening	4000	LMNA	ORPHA:2348
HP:0011368	Epidermal thickening	9076	CLDN1	ORPHA:59303
HP:0011368	Epidermal thickening	11128	POLR3A	ORPHA:3455
HP:0011368	Epidermal thickening	7030	TFE3	OMIM:301066
HP:0011368	Epidermal thickening	5692	PSMB4	OMIM:617591
HP:0011368	Epidermal thickening	7518	XRCC4	OMIM:616541
HP:0011368	Epidermal thickening	6603	SMARCD2	OMIM:617475
HP:0011368	Epidermal thickening	1315	COPB1	OMIM:619255
HP:0011368	Epidermal thickening	64834	ELOVL1	OMIM:618527
HP:0011368	Epidermal thickening	208	AKT2	ORPHA:79085
HP:0011368	Epidermal thickening	2077	ERF	ORPHA:207
HP:0011368	Epidermal thickening	11145	PLAAT3	OMIM:620683
HP:0011368	Epidermal thickening	10555	AGPAT2	ORPHA:528
HP:0011368	Epidermal thickening	10555	AGPAT2	OMIM:608594
HP:0011368	Epidermal thickening	284119	CAVIN1	ORPHA:528
HP:0011368	Epidermal thickening	284119	CAVIN1	OMIM:613327
HP:0011368	Epidermal thickening	2353	FOS	ORPHA:528
HP:0011368	Epidermal thickening	83550	GPR101	ORPHA:963
HP:0011368	Epidermal thickening	83550	GPR101	OMIM:300942
HP:0011368	Epidermal thickening	9049	AIP	ORPHA:963
HP:0011368	Epidermal thickening	3265	HRAS	ORPHA:3071
HP:0011368	Epidermal thickening	3265	HRAS	OMIM:218040
HP:0011368	Epidermal thickening	335	APOA1	OMIM:620657
HP:0011368	Epidermal thickening	5696	PSMB8	OMIM:256040
HP:0011368	Epidermal thickening	3720	JARID2	OMIM:620098
HP:0011368	Epidermal thickening	1588	CYP19A1	ORPHA:91
HP:0011368	Epidermal thickening	11005	SPINK5	ORPHA:634
HP:0011368	Epidermal thickening	3858	KRT10	ORPHA:312
HP:0011368	Epidermal thickening	3858	KRT10	OMIM:620150
HP:0011368	Epidermal thickening	3858	KRT10	OMIM:146600
HP:0011368	Epidermal thickening	3848	KRT1	ORPHA:312
HP:0011368	Epidermal thickening	3848	KRT1	ORPHA:79503
HP:0011368	Epidermal thickening	3848	KRT1	ORPHA:2199
HP:0011368	Epidermal thickening	8036	SHOC2	OMIM:607721
HP:0011368	Epidermal thickening	8216	LZTR1	OMIM:616564
HP:0011368	Epidermal thickening	8216	LZTR1	OMIM:605275
HP:0011368	Epidermal thickening	25923	ATL3	OMIM:615632
HP:0011368	Epidermal thickening	25923	ATL3	ORPHA:36386
HP:0011368	Epidermal thickening	100151683	RNU4ATAC	OMIM:210710
HP:0011368	Epidermal thickening	6016	RIT1	OMIM:615355
HP:0011368	Epidermal thickening	29926	GMPPA	OMIM:615510
HP:0011368	Epidermal thickening	673	BRAF	OMIM:115150
HP:0011368	Epidermal thickening	673	BRAF	ORPHA:1340
HP:0011368	Epidermal thickening	673	BRAF	OMIM:613707
HP:0011368	Epidermal thickening	4254	KITLG	OMIM:145250
HP:0011368	Epidermal thickening	9526	MPDU1	OMIM:609180
HP:0011368	Epidermal thickening	64682	ANAPC1	OMIM:618625
HP:0011368	Epidermal thickening	79755	ZNF750	OMIM:610227
HP:0011368	Epidermal thickening	56983	POGLUT1	ORPHA:79145
HP:0011368	Epidermal thickening	3852	KRT5	ORPHA:79145
HP:0011368	Epidermal thickening	3852	KRT5	ORPHA:79399
HP:0011368	Epidermal thickening	23509	POFUT1	ORPHA:79145
HP:0011368	Epidermal thickening	55851	PSENEN	ORPHA:79145
HP:0011368	Epidermal thickening	8626	TP63	OMIM:604292
HP:0011368	Epidermal thickening	8626	TP63	ORPHA:1896
HP:0011368	Epidermal thickening	2629	GBA1	OMIM:608013
HP:0011368	Epidermal thickening	79650	USB1	OMIM:604173
HP:0011368	Epidermal thickening	2706	GJB2	OMIM:602540
HP:0011368	Epidermal thickening	2706	GJB2	ORPHA:2202
HP:0011368	Epidermal thickening	2706	GJB2	ORPHA:494
HP:0011368	Epidermal thickening	2706	GJB2	OMIM:148210
HP:0011368	Epidermal thickening	3106	HLA-B	ORPHA:29207
HP:0011368	Epidermal thickening	831	CAST	OMIM:616295
HP:0011368	Epidermal thickening	23586	RIGI	OMIM:616298
HP:0011368	Epidermal thickening	1294	COL7A1	ORPHA:89843
HP:0011368	Epidermal thickening	1294	COL7A1	OMIM:131850
HP:0011368	Epidermal thickening	5167	ENPP1	OMIM:615522
HP:0011368	Epidermal thickening	51360	MBTPS2	OMIM:300918
HP:0011368	Epidermal thickening	51360	MBTPS2	ORPHA:2273
HP:0011368	Epidermal thickening	51360	MBTPS2	OMIM:308205
HP:0011368	Epidermal thickening	63916	ELMO2	ORPHA:3019
HP:0011368	Epidermal thickening	4574	MT-TS1	ORPHA:2202
HP:0011368	Epidermal thickening	79644	SRD5A3	OMIM:612379
HP:0011368	Epidermal thickening	224	ALDH3A2	ORPHA:816
HP:0011368	Epidermal thickening	3861	KRT14	OMIM:131800
HP:0011368	Epidermal thickening	3861	KRT14	ORPHA:89838
HP:0011368	Epidermal thickening	3861	KRT14	ORPHA:79399
HP:0011368	Epidermal thickening	64065	PERP	OMIM:619208
HP:0011368	Epidermal thickening	4758	NEU1	ORPHA:812
HP:0011368	Epidermal thickening	55780	ERMARD	ORPHA:75857
HP:0011368	Epidermal thickening	27032	ATP2C1	ORPHA:2841
HP:0011368	Epidermal thickening	284058	KANSL1	ORPHA:363958
HP:0011368	Epidermal thickening	284058	KANSL1	ORPHA:363965
HP:0011368	Epidermal thickening	50814	NSDHL	OMIM:308050
HP:0011368	Epidermal thickening	102	ADAM10	OMIM:615537
HP:0011368	Epidermal thickening	412	STS	ORPHA:281090
HP:0011368	Epidermal thickening	412	STS	ORPHA:461
HP:0011368	Epidermal thickening	5604	MAP2K1	ORPHA:1340
HP:0011368	Epidermal thickening	5604	MAP2K1	OMIM:615279
HP:0011368	Epidermal thickening	5605	MAP2K2	ORPHA:1340
HP:0011368	Epidermal thickening	3845	KRAS	ORPHA:1340
HP:0011368	Epidermal thickening	22845	DOLK	OMIM:610768
HP:0011368	Epidermal thickening	2717	GLA	ORPHA:324
HP:0011368	Epidermal thickening	6768	ST14	OMIM:602400
HP:0011368	Epidermal thickening	6898	TAT	ORPHA:28378
HP:0011368	Epidermal thickening	1475	CSTA	OMIM:607936
HP:0011368	Epidermal thickening	2068	ERCC2	OMIM:601675
HP:0011368	Epidermal thickening	2068	ERCC2	ORPHA:910
HP:0011368	Epidermal thickening	204219	CERS3	OMIM:615023
HP:0011368	Epidermal thickening	285848	PNPLA1	OMIM:615024
HP:0011368	Epidermal thickening	57511	COG6	OMIM:614576
HP:0011368	Epidermal thickening	23086	EXPH5	OMIM:615028
HP:0011368	Epidermal thickening	84818	IL17RC	ORPHA:1334
HP:0011368	Epidermal thickening	64581	CLEC7A	ORPHA:1334
HP:0011368	Epidermal thickening	23765	IL17RA	ORPHA:1334
HP:0011368	Epidermal thickening	10758	TRAF3IP2	ORPHA:1334
HP:0011368	Epidermal thickening	112744	IL17F	ORPHA:1334
HP:0011368	Epidermal thickening	151516	ASPRV1	OMIM:146750
HP:0011368	Epidermal thickening	151516	ASPRV1	ORPHA:313
HP:0011368	Epidermal thickening	1001	CDH3	ORPHA:1573
HP:0011368	Epidermal thickening	1832	DSP	OMIM:615821
HP:0011368	Epidermal thickening	6785	ELOVL4	OMIM:614457
HP:0011368	Epidermal thickening	6785	ELOVL4	OMIM:133190
HP:0011368	Epidermal thickening	2697	GJA1	ORPHA:317
HP:0011368	Epidermal thickening	2697	GJA1	OMIM:104100
HP:0011368	Epidermal thickening	2697	GJA1	OMIM:617525
HP:0011368	Epidermal thickening	2707	GJB3	ORPHA:317
HP:0011368	Epidermal thickening	2531	KDSR	ORPHA:317
HP:0011368	Epidermal thickening	2531	KDSR	OMIM:617526
HP:0011368	Epidermal thickening	127534	GJB4	ORPHA:317
HP:0011368	Epidermal thickening	9487	PIGL	ORPHA:3474
HP:0011368	Epidermal thickening	242	ALOX12B	ORPHA:313
HP:0011368	Epidermal thickening	242	ALOX12B	OMIM:242100
HP:0011368	Epidermal thickening	126410	CYP4F22	ORPHA:313
HP:0011368	Epidermal thickening	6820	SULT2B1	ORPHA:313
HP:0011368	Epidermal thickening	6820	SULT2B1	OMIM:617571
HP:0011368	Epidermal thickening	26154	ABCA12	ORPHA:313
HP:0011368	Epidermal thickening	26154	ABCA12	ORPHA:457
HP:0011368	Epidermal thickening	643418	LIPN	ORPHA:313
HP:0011368	Epidermal thickening	643418	LIPN	OMIM:613943
HP:0011368	Epidermal thickening	59344	ALOXE3	ORPHA:313
HP:0011368	Epidermal thickening	59344	ALOXE3	OMIM:242100
HP:0011368	Epidermal thickening	59344	ALOXE3	OMIM:606545
HP:0011368	Epidermal thickening	348938	NIPAL4	ORPHA:313
HP:0011368	Epidermal thickening	348938	NIPAL4	OMIM:612281
HP:0011368	Epidermal thickening	121214	SDR9C7	ORPHA:313
HP:0011368	Epidermal thickening	121214	SDR9C7	OMIM:617574
HP:0011368	Epidermal thickening	7051	TGM1	ORPHA:313
HP:0011368	Epidermal thickening	10558	SPTLC1	ORPHA:36386
HP:0011368	Epidermal thickening	9517	SPTLC2	ORPHA:36386
HP:0011368	Epidermal thickening	51062	ATL1	ORPHA:36386
HP:0011368	Epidermal thickening	54345	SOX18	OMIM:137940
HP:0011368	Epidermal thickening	80326	WNT10A	OMIM:224750
HP:0011368	Epidermal thickening	134218	DNAJC21	OMIM:617052
HP:0011368	Epidermal thickening	1041	CDSN	ORPHA:90368
HP:0011368	Epidermal thickening	121391	KRT74	ORPHA:90368
HP:0011368	Epidermal thickening	11012	KLK11	OMIM:620507
HP:0011368	Epidermal thickening	10013	HDAC6	ORPHA:163966
HP:0011368	Epidermal thickening	7486	WRN	ORPHA:902
HP:0011368	Epidermal thickening	8379	MAD1L1	OMIM:620189
HP:0011368	Epidermal thickening	5184	PEPD	ORPHA:742
HP:0011368	Epidermal thickening	8517	IKBKG	ORPHA:464
HP:0011368	Epidermal thickening	8517	IKBKG	OMIM:308300
HP:0011368	Epidermal thickening	2312	FLG	ORPHA:461
HP:0011368	Epidermal thickening	5159	PDGFRB	OMIM:601812
HP:0011368	Epidermal thickening	207	AKT1	OMIM:176920
HP:0011368	Epidermal thickening	488	ATP2A2	OMIM:101900
HP:0011368	Epidermal thickening	488	ATP2A2	ORPHA:79151
HP:0011368	Epidermal thickening	3557	IL1RN	OMIM:612852
HP:0011368	Epidermal thickening	10654	PMVK	ORPHA:735
HP:0011368	Epidermal thickening	4598	MVK	ORPHA:735
HP:0011368	Epidermal thickening	2324	FLT4	ORPHA:79452
HP:0011368	Epidermal thickening	9780	PIEZO1	ORPHA:79452
HP:0011368	Epidermal thickening	285	ANGPT2	ORPHA:79452
HP:0011368	Epidermal thickening	57165	GJC2	ORPHA:79452
HP:0011368	Epidermal thickening	1303	COL12A1	ORPHA:610
HP:0011368	Epidermal thickening	1291	COL6A1	ORPHA:610
HP:0011368	Epidermal thickening	1292	COL6A2	ORPHA:610
HP:0011368	Epidermal thickening	1293	COL6A3	ORPHA:610
HP:0011368	Epidermal thickening	1893	ECM1	ORPHA:530
HP:0011368	Epidermal thickening	1893	ECM1	OMIM:247100
HP:0011368	Epidermal thickening	4014	LORICRIN	OMIM:604117
HP:0011368	Epidermal thickening	4014	LORICRIN	ORPHA:79395
HP:0011368	Epidermal thickening	57609	DIP2B	OMIM:136630
HP:0011368	Epidermal thickening	5422	POLA1	OMIM:301220
HP:0011368	Epidermal thickening	1736	DKC1	OMIM:301108
HP:0011368	Epidermal thickening	55612	FERMT1	ORPHA:2908
HP:0011368	Epidermal thickening	3889	KRT83	OMIM:617756
HP:0011368	Epidermal thickening	79977	GRHL2	OMIM:616029
HP:0011368	Epidermal thickening	4668	NAGA	ORPHA:79280
HP:0011368	Epidermal thickening	4668	NAGA	OMIM:609242
HP:0011368	Epidermal thickening	4668	NAGA	ORPHA:79279
HP:0011368	Epidermal thickening	10269	ZMPSTE24	ORPHA:1662
HP:0011368	Epidermal thickening	10269	ZMPSTE24	OMIM:275210
HP:0011368	Epidermal thickening	5271	SERPINB8	OMIM:617115
HP:0011368	Epidermal thickening	3868	KRT16	ORPHA:2199
HP:0011368	Epidermal thickening	3857	KRT9	ORPHA:2199
HP:0011368	Epidermal thickening	5498	PPOX	OMIM:620483
HP:0011368	Epidermal thickening	79092	CARD14	OMIM:602723
HP:0011368	Epidermal thickening	162	AP1B1	ORPHA:171851
HP:0011368	Epidermal thickening	1174	AP1S1	ORPHA:171851
HP:0011368	Epidermal thickening	7227	TRPS1	OMIM:190351
HP:0011368	Epidermal thickening	2744	GLS	OMIM:618339
HP:0011368	Epidermal thickening	29969	MDFIC	OMIM:620014
HP:0011368	Epidermal thickening	1493	CTLA4	ORPHA:2584
HP:0011368	Epidermal thickening	940	CD28	ORPHA:2584
HP:0011368	Epidermal thickening	7133	TNFRSF1B	ORPHA:2584
HP:0011368	Epidermal thickening	7299	TYR	ORPHA:79431
HP:0011368	Epidermal thickening	7507	XPA	ORPHA:910
HP:0011368	Epidermal thickening	2071	ERCC3	ORPHA:910
HP:0011368	Epidermal thickening	7508	XPC	ORPHA:910
HP:0011368	Epidermal thickening	1643	DDB2	ORPHA:910
HP:0011368	Epidermal thickening	2072	ERCC4	ORPHA:910
HP:0011368	Epidermal thickening	2073	ERCC5	ORPHA:910
HP:0011368	Epidermal thickening	7424	VEGFC	OMIM:615907
HP:0011368	Epidermal thickening	55505	NOP10	OMIM:224230
HP:0011368	Epidermal thickening	55651	NHP2	OMIM:224230
HP:0011368	Epidermal thickening	1075	CTSC	OMIM:170650
HP:0011368	Epidermal thickening	1075	CTSC	OMIM:245000
HP:0011368	Epidermal thickening	1075	CTSC	ORPHA:678
HP:0011368	Epidermal thickening	3248	HPGD	OMIM:259100
HP:0011368	Epidermal thickening	3891	KRT85	OMIM:602032
HP:0011368	Epidermal thickening	10651	MTX2	OMIM:619127
HP:0011368	Epidermal thickening	5818	NECTIN1	ORPHA:3253
HP:0011368	Epidermal thickening	5818	NECTIN1	OMIM:225060
HP:0011368	Epidermal thickening	7015	TERT	OMIM:613989
HP:0011368	Epidermal thickening	9896	FIG4	OMIM:216340
HP:0011368	Epidermal thickening	667	DST	OMIM:615425
HP:0011368	Epidermal thickening	1308	COL17A1	ORPHA:79406
HP:0011368	Epidermal thickening	1308	COL17A1	ORPHA:79402
HP:0011368	Epidermal thickening	4312	MMP1	ORPHA:79408
HP:0011368	Epidermal thickening	1824	DSC2	OMIM:610476
HP:0011368	Epidermal thickening	6578	SLCO2A1	ORPHA:2796
HP:0011368	Epidermal thickening	3909	LAMA3	ORPHA:79402
HP:0011368	Epidermal thickening	3918	LAMC2	ORPHA:79402
HP:0011368	Epidermal thickening	3691	ITGB4	ORPHA:79402
HP:0011368	Epidermal thickening	23328	SASH1	OMIM:618373
HP:0011368	Epidermal thickening	1474	CST6	OMIM:618535
HP:0011368	Epidermal thickening	25959	KANK2	OMIM:616099
HP:0011368	Epidermal thickening	57192	MCOLN1	ORPHA:578
HP:0011368	Epidermal thickening	80169	CTC1	ORPHA:1775
HP:0011368	Epidermal thickening	26277	TINF2	ORPHA:1775
HP:0011368	Epidermal thickening	55135	WRAP53	ORPHA:1775
HP:0011368	Epidermal thickening	51750	RTEL1	ORPHA:1775
HP:0011368	Epidermal thickening	4869	NPM1	ORPHA:1775
HP:0011368	Epidermal thickening	7012	TERC	ORPHA:1775
HP:0011368	Epidermal thickening	5073	PARN	ORPHA:1775
HP:0011368	Epidermal thickening	7298	TYMS	ORPHA:1775
HP:0011368	Epidermal thickening	7286	TUFT1	OMIM:620415
HP:0011368	Epidermal thickening	388698	FLG2	OMIM:618084
HP:0011368	Epidermal thickening	3939	LDHA	ORPHA:284426
HP:0011368	Epidermal thickening	79651	RHBDF2	OMIM:148500
HP:0011368	Epidermal thickening	26525	IL36RN	OMIM:614204
HP:0011368	Epidermal thickening	2074	ERCC6	OMIM:278800
HP:0011368	Epidermal thickening	51371	POMP	OMIM:601952
HP:0011368	Epidermal thickening	54795	TRPM4	OMIM:618531
HP:0011368	Epidermal thickening	162514	TRPV3	OMIM:614594
HP:0011368	Epidermal thickening	22861	NLRP1	OMIM:615225
HP:0011368	Epidermal thickening	4597	MVD	OMIM:614714
HP:0011368	Epidermal thickening	10483	SEC23B	ORPHA:201
HP:0011368	Epidermal thickening	6390	SDHB	ORPHA:201
HP:0011368	Epidermal thickening	6392	SDHD	ORPHA:201
HP:0011368	Epidermal thickening	6391	SDHC	ORPHA:201
HP:0011368	Epidermal thickening	205717	USF3	ORPHA:201
HP:0011368	Epidermal thickening	5290	PIK3CA	ORPHA:201
HP:0011368	Epidermal thickening	100144748	KLLN	ORPHA:201
HP:0011368	Epidermal thickening	2517	FUCA1	ORPHA:349
HP:0011368	Epidermal thickening	145264	SERPINA12	ORPHA:86923
HP:0011368	Epidermal thickening	362	AQP5	OMIM:600231
HP:0011368	Epidermal thickening	362	AQP5	ORPHA:2337
HP:0011368	Epidermal thickening	54800	KLHL24	OMIM:617294
HP:0011368	Epidermal thickening	3892	KRT86	OMIM:158000
HP:0011368	Epidermal thickening	3887	KRT81	OMIM:158000
HP:0011368	Epidermal thickening	3122	HLA-DRA	ORPHA:505
HP:0011368	Epidermal thickening	51099	ABHD5	ORPHA:98907
HP:0011368	Epidermal thickening	51099	ABHD5	OMIM:275630
HP:0011368	Epidermal thickening	51163	DBR1	OMIM:620510
HP:0011368	Epidermal thickening	3872	KRT17	ORPHA:2309
HP:0011368	Epidermal thickening	3853	KRT6A	ORPHA:2309
HP:0011368	Epidermal thickening	3854	KRT6B	ORPHA:2309
HP:0011368	Epidermal thickening	147409	DSG4	ORPHA:573
HP:0011368	Epidermal thickening	147409	DSG4	OMIM:607903
HP:0011368	Epidermal thickening	10804	GJB6	ORPHA:477
HP:0011368	Epidermal thickening	5317	PKP1	ORPHA:158668
HP:0011368	Epidermal thickening	5351	PLOD1	OMIM:225400
HP:0011368	Epidermal thickening	55033	FKBP14	ORPHA:300179
HP:0011368	Epidermal thickening	55033	FKBP14	OMIM:614557
HP:0011368	Epidermal thickening	4035	LRP1	ORPHA:79100
HP:0011368	Epidermal thickening	6720	SREBF1	OMIM:158310
HP:0011368	Epidermal thickening	9325	TRIP4	OMIM:617066
HP:0011368	Epidermal thickening	9325	TRIP4	ORPHA:486815
HP:0011368	Epidermal thickening	4921	DDR2	OMIM:618175
HP:0011368	Epidermal thickening	5950	RBP4	OMIM:615147
HP:0011368	Epidermal thickening	1825	DSC3	OMIM:613102
HP:0011368	Epidermal thickening	5339	PLEC	OMIM:616487
HP:0011368	Epidermal thickening	3914	LAMB3	OMIM:226650
HP:0011368	Epidermal thickening	286887	KRT6C	OMIM:615735
HP:0011368	Epidermal thickening	60684	TRAPPC11	ORPHA:869
HP:0011368	Epidermal thickening	8086	AAAS	ORPHA:869
HP:0011368	Epidermal thickening	10682	EBP	ORPHA:401973
HP:0011368	Epidermal thickening	10682	EBP	ORPHA:35173
HP:0011368	Epidermal thickening	10682	EBP	OMIM:300960
HP:0011368	Epidermal thickening	4047	LSS	ORPHA:2850
HP:0011368	Epidermal thickening	4047	LSS	OMIM:618840
HP:0011368	Epidermal thickening	197	AHSG	ORPHA:2850
HP:0011368	Epidermal thickening	3694	ITGB6	ORPHA:2850
HP:0011368	Epidermal thickening	1120	CHKB	OMIM:602541
HP:0011368	Epidermal thickening	57104	PNPLA2	ORPHA:565612
HP:0011368	Epidermal thickening	57104	PNPLA2	OMIM:610717
HP:0011368	Epidermal thickening	57104	PNPLA2	ORPHA:98908
HP:0011368	Epidermal thickening	5191	PEX7	OMIM:266500
HP:0011368	Epidermal thickening	5191	PEX7	OMIM:215100
HP:0011368	Epidermal thickening	5191	PEX7	OMIM:614879
HP:0011368	Epidermal thickening	5191	PEX7	ORPHA:773
HP:0011368	Epidermal thickening	5264	PHYH	OMIM:266500
HP:0011368	Epidermal thickening	5264	PHYH	ORPHA:773
HP:0011368	Epidermal thickening	9342	SNAP29	ORPHA:66631
HP:0011368	Epidermal thickening	9342	SNAP29	OMIM:609528
HP:0011368	Epidermal thickening	128486	FITM2	OMIM:618635
HP:0011368	Epidermal thickening	1287	COL4A5	OMIM:301050
HP:0011368	Epidermal thickening	9837	GINS1	OMIM:617827
HP:0011368	Epidermal thickening	79631	EFL1	ORPHA:811
HP:0011368	Epidermal thickening	51119	SBDS	ORPHA:811
HP:0011368	Epidermal thickening	3849	KRT2	ORPHA:455
HP:0011368	Epidermal thickening	114548	NLRP3	ORPHA:575
HP:0011368	Epidermal thickening	54453	RIN2	OMIM:613075
HP:0011368	Epidermal thickening	4141	MARS1	OMIM:619692
HP:0011368	Epidermal thickening	10999	SLC27A4	ORPHA:88621
HP:0011368	Epidermal thickening	29968	PSAT1	ORPHA:284417
HP:0011368	Epidermal thickening	29968	PSAT1	OMIM:616038
HP:0011368	Epidermal thickening	26276	VPS33B	OMIM:208085
HP:0011368	Epidermal thickening	26276	VPS33B	OMIM:620009
HP:0011368	Epidermal thickening	5277	PIGA	OMIM:300868
HP:0011368	Epidermal thickening	5277	PIGA	OMIM:301072
HP:0011368	Epidermal thickening	146206	CARMIL2	OMIM:618131
HP:0011368	Epidermal thickening	3560	IL2RB	OMIM:618495
HP:0011368	Epidermal thickening	2783	GNB2	OMIM:619503
HP:0011368	Epidermal thickening	63894	VIPAS39	OMIM:613404
HP:0011368	Epidermal thickening	26227	PHGDH	OMIM:256520
HP:0011368	Epidermal thickening	8879	SGPL1	OMIM:617575
HP:0011368	Epidermal thickening	91754	NEK9	ORPHA:64754
HP:0011368	Epidermal thickening	6897	TARS1	OMIM:618546
HP:0011368	Epidermal thickening	6897	TARS1	ORPHA:33364
HP:0011368	Epidermal thickening	10283	CWC27	OMIM:250410
HP:0011368	Epidermal thickening	10283	CWC27	ORPHA:166035
HP:0011368	Epidermal thickening	4893	NRAS	OMIM:163200
HP:0011368	Epidermal thickening	285362	SUMF1	OMIM:272200
HP:0011368	Epidermal thickening	285362	SUMF1	ORPHA:585
HP:0011368	Epidermal thickening	57152	SLURP1	ORPHA:87503
HP:0011368	Epidermal thickening	57152	SLURP1	OMIM:248300
HP:0011368	Epidermal thickening	6786	STIM1	OMIM:185070
HP:0011368	Epidermal thickening	6786	STIM1	ORPHA:3204
HP:0011368	Epidermal thickening	55670	PEX26	ORPHA:772
HP:0011368	Epidermal thickening	5824	PEX19	ORPHA:772
HP:0011368	Epidermal thickening	5828	PEX2	ORPHA:772
HP:0011368	Epidermal thickening	8504	PEX3	ORPHA:772
HP:0011368	Epidermal thickening	9409	PEX16	ORPHA:772
HP:0011368	Epidermal thickening	8799	PEX11B	ORPHA:772
HP:0011368	Epidermal thickening	5830	PEX5	ORPHA:772
HP:0011368	Epidermal thickening	5193	PEX12	ORPHA:772
HP:0011368	Epidermal thickening	5194	PEX13	ORPHA:772
HP:0011368	Epidermal thickening	5195	PEX14	ORPHA:772
HP:0011368	Epidermal thickening	5192	PEX10	ORPHA:772
HP:0011368	Epidermal thickening	415	ARSL	OMIM:302950
HP:0011368	Epidermal thickening	10848	PPP1R13L	OMIM:620519
HP:0011368	Epidermal thickening	2961	GTF2E2	OMIM:616943
HP:0011368	Epidermal thickening	2961	GTF2E2	ORPHA:33364
HP:0011368	Epidermal thickening	404672	GTF2H5	ORPHA:33364
HP:0011368	Epidermal thickening	404672	GTF2H5	OMIM:616395
HP:0011368	Epidermal thickening	833	CARS1	ORPHA:33364
HP:0011368	Epidermal thickening	7737	RNF113A	ORPHA:33364
HP:0011368	Epidermal thickening	136647	MPLKIP	ORPHA:33364
HP:0011368	Epidermal thickening	16	AARS1	ORPHA:33364
HP:0011368	Epidermal thickening	64127	NOD2	ORPHA:90340
HP:0011368	Epidermal thickening	2273	FHL1	ORPHA:98863
HP:0011368	Epidermal thickening	2010	EMD	ORPHA:98863
HP:0011368	Epidermal thickening	84876	ORAI1	ORPHA:3204
HP:0011368	Epidermal thickening	9333	TGM5	ORPHA:263534
HP:0011368	Epidermal thickening	6595	SMARCA2	OMIM:601358
HP:0011368	Epidermal thickening	55315	SLC29A3	ORPHA:168569
HP:0011368	Epidermal thickening	6307	MSMO1	OMIM:616834
HP:0011368	Epidermal thickening	1828	DSG1	OMIM:615508
HP:0011368	Epidermal thickening	2260	FGFR1	ORPHA:478
HP:0011368	Epidermal thickening	10371	SEMA3A	ORPHA:478
HP:0011368	Epidermal thickening	81848	SPRY4	ORPHA:478
HP:0011368	Epidermal thickening	23767	FLRT3	ORPHA:478
HP:0011368	Epidermal thickening	128674	PROKR2	ORPHA:478
HP:0011368	Epidermal thickening	79625	NDNF	ORPHA:478
HP:0011368	Epidermal thickening	2253	FGF8	ORPHA:478
HP:0011368	Epidermal thickening	389549	FEZF1	ORPHA:478
HP:0011368	Epidermal thickening	1630	DCC	ORPHA:478
HP:0011368	Epidermal thickening	3730	ANOS1	ORPHA:478
HP:0011368	Epidermal thickening	54756	IL17RD	ORPHA:478
HP:0011368	Epidermal thickening	6663	SOX10	ORPHA:478
HP:0011368	Epidermal thickening	285025	CCDC141	ORPHA:478
HP:0011368	Epidermal thickening	60675	PROK2	ORPHA:478
HP:0011368	Epidermal thickening	55636	CHD7	ORPHA:478
HP:0011368	Epidermal thickening	1848	DUSP6	ORPHA:478
HP:0011368	Epidermal thickening	6870	TACR3	ORPHA:478
HP:0011368	Epidermal thickening	55717	WDR11	ORPHA:478
HP:0011368	Epidermal thickening	9394	HS6ST1	ORPHA:478
HP:0011368	Epidermal thickening	8820	HESX1	ORPHA:478
HP:0011368	Epidermal thickening	8822	FGF17	ORPHA:478
HP:0011368	Epidermal thickening	79188	TMEM43	ORPHA:98853
HP:0011368	Epidermal thickening	23345	SYNE1	ORPHA:98853
HP:0011368	Epidermal thickening	23224	SYNE2	ORPHA:98853
HP:0011368	Epidermal thickening	56916	SMARCAD1	OMIM:136000
HP:0011368	Epidermal thickening	55906	ZC4H2	OMIM:314580
HP:0011368	Epidermal thickening	81607	NECTIN4	OMIM:613573
HP:0011368	Epidermal thickening	1080	CFTR	ORPHA:498359
HP:0011368	Epidermal thickening	284654	RSPO1	OMIM:610644
HP:0011368	Epidermal thickening	8710	SERPINB7	OMIM:615598
HP:0011368	Epidermal thickening	79719	AAGAB	OMIM:148600
HP:0011368	Epidermal thickening	79719	AAGAB	ORPHA:79501
HP:0011368	Epidermal thickening	7373	COL14A1	ORPHA:79501
HP:0011368	Epidermal thickening	2050	EPHB4	ORPHA:90186
HP:0011368	Epidermal thickening	3860	KRT13	OMIM:615785
HP:0011368	Epidermal thickening	126695	KDF1	OMIM:617337
HP:0011368	Epidermal thickening	5728	PTEN	OMIM:158350
HP:0011368	Epidermal thickening	5728	PTEN	ORPHA:65285
HP:0011368	Epidermal thickening	84946	LTV1	OMIM:620199
HP:0011368	Epidermal thickening	267010	RNU12	OMIM:603116
HP:0011368	Epidermal thickening	267010	RNU12	ORPHA:85199
HP:0011368	Epidermal thickening	63910	SLC17A9	OMIM:616063
HP:0011368	Epidermal thickening	63910	SLC17A9	ORPHA:79152
HP:0011368	Epidermal thickening	9401	RECQL4	ORPHA:221016
HP:0011368	Epidermal thickening	2224	FDPS	OMIM:616631
HP:0011368	Epidermal thickening	2224	FDPS	ORPHA:79152
HP:0001036	Parakeratosis	126410	CYP4F22	OMIM:604777
HP:0001036	Parakeratosis	4014	LORICRIN	OMIM:604117
HP:0001036	Parakeratosis	4014	LORICRIN	ORPHA:79395
HP:0001036	Parakeratosis	9076	CLDN1	OMIM:607626
HP:0001036	Parakeratosis	7051	TGM1	OMIM:242300
HP:0001036	Parakeratosis	7051	TGM1	ORPHA:100976
HP:0001036	Parakeratosis	388698	FLG2	OMIM:618084
HP:0001036	Parakeratosis	3939	LDHA	ORPHA:284426
HP:0001036	Parakeratosis	348938	NIPAL4	OMIM:612281
HP:0001036	Parakeratosis	3852	KRT5	ORPHA:158681
HP:0001036	Parakeratosis	50814	NSDHL	OMIM:308050
HP:0001036	Parakeratosis	64834	ELOVL1	OMIM:618527
HP:0001036	Parakeratosis	79651	RHBDF2	OMIM:148500
HP:0001036	Parakeratosis	1041	CDSN	ORPHA:90368
HP:0001036	Parakeratosis	121391	KRT74	ORPHA:90368
HP:0001036	Parakeratosis	11012	KLK11	OMIM:620507
HP:0001036	Parakeratosis	79092	CARD14	OMIM:173200
HP:0001036	Parakeratosis	79092	CARD14	OMIM:602723
HP:0001036	Parakeratosis	26525	IL36RN	OMIM:614204
HP:0001036	Parakeratosis	2074	ERCC6	OMIM:278800
HP:0001036	Parakeratosis	51371	POMP	OMIM:601952
HP:0001036	Parakeratosis	54795	TRPM4	OMIM:618531
HP:0001036	Parakeratosis	162514	TRPV3	OMIM:614594
HP:0001036	Parakeratosis	4598	MVK	OMIM:175900
HP:0001036	Parakeratosis	10654	PMVK	OMIM:175800
HP:0001036	Parakeratosis	22861	NLRP1	OMIM:615225
HP:0001036	Parakeratosis	51360	MBTPS2	OMIM:300918
HP:0001036	Parakeratosis	11005	SPINK5	OMIM:256500
HP:0001036	Parakeratosis	488	ATP2A2	ORPHA:79151
HP:0001036	Parakeratosis	1832	DSP	OMIM:615821
HP:0001036	Parakeratosis	64065	PERP	OMIM:619208
HP:0001036	Parakeratosis	2744	GLS	OMIM:618339
HP:0001036	Parakeratosis	4597	MVD	OMIM:614714
HP:0001036	Parakeratosis	5290	PIK3CA	ORPHA:276280
HP:0001036	Parakeratosis	3860	KRT13	OMIM:615785
HP:0001036	Parakeratosis	3858	KRT10	OMIM:607602
HP:0000965	Cutis marmorata	23476	BRD4	ORPHA:199
HP:0000965	Cutis marmorata	9126	SMC3	ORPHA:199
HP:0000965	Cutis marmorata	9126	SMC3	OMIM:610759
HP:0000965	Cutis marmorata	8243	SMC1A	ORPHA:199
HP:0000965	Cutis marmorata	8243	SMC1A	OMIM:300590
HP:0000965	Cutis marmorata	6878	TAF6	ORPHA:199
HP:0000965	Cutis marmorata	25836	NIPBL	ORPHA:199
HP:0000965	Cutis marmorata	25836	NIPBL	OMIM:122470
HP:0000965	Cutis marmorata	55869	HDAC8	ORPHA:199
HP:0000965	Cutis marmorata	55869	HDAC8	OMIM:300882
HP:0000965	Cutis marmorata	5885	RAD21	ORPHA:199
HP:0000965	Cutis marmorata	5885	RAD21	OMIM:614701
HP:0000965	Cutis marmorata	3981	LIG4	ORPHA:235
HP:0000965	Cutis marmorata	54888	NSUN2	ORPHA:235
HP:0000965	Cutis marmorata	9791	PTDSS1	OMIM:151050
HP:0000965	Cutis marmorata	2982	GUCY1A1	OMIM:615750
HP:0000965	Cutis marmorata	2982	GUCY1A1	ORPHA:401945
HP:0000965	Cutis marmorata	7737	RNF113A	OMIM:300953
HP:0000965	Cutis marmorata	5290	PIK3CA	ORPHA:60040
HP:0000965	Cutis marmorata	5290	PIK3CA	OMIM:602501
HP:0000965	Cutis marmorata	5290	PIK3CA	ORPHA:140944
HP:0000965	Cutis marmorata	189	AGXT	OMIM:259900
HP:0000965	Cutis marmorata	57514	ARHGAP31	OMIM:100300
HP:0000965	Cutis marmorata	57514	ARHGAP31	ORPHA:974
HP:0000965	Cutis marmorata	2355	FOSL2	OMIM:620789
HP:0000965	Cutis marmorata	8364	H4C3	OMIM:619758
HP:0000965	Cutis marmorata	5728	PTEN	ORPHA:109
HP:0000965	Cutis marmorata	4629	MYH11	ORPHA:229
HP:0000965	Cutis marmorata	4629	MYH11	ORPHA:91387
HP:0000965	Cutis marmorata	10274	STAG1	ORPHA:502434
HP:0000965	Cutis marmorata	4774	NFIA	OMIM:613735
HP:0000965	Cutis marmorata	4774	NFIA	ORPHA:401986
HP:0000965	Cutis marmorata	51816	ADA2	ORPHA:820
HP:0000965	Cutis marmorata	51816	ADA2	OMIM:615688
HP:0000965	Cutis marmorata	51816	ADA2	OMIM:182410
HP:0000965	Cutis marmorata	10060	ABCC9	OMIM:619719
HP:0000965	Cutis marmorata	55027	HEATR3	OMIM:620072
HP:0000965	Cutis marmorata	4784	NFIX	OMIM:614753
HP:0000965	Cutis marmorata	54345	SOX18	ORPHA:69735
HP:0000965	Cutis marmorata	1717	DHCR7	ORPHA:818
HP:0000965	Cutis marmorata	3516	RBPJ	ORPHA:974
HP:0000965	Cutis marmorata	4851	NOTCH1	ORPHA:974
HP:0000965	Cutis marmorata	57572	DOCK6	ORPHA:974
HP:0000965	Cutis marmorata	57572	DOCK6	OMIM:614219
HP:0000965	Cutis marmorata	285203	EOGT	ORPHA:974
HP:0000965	Cutis marmorata	285203	EOGT	OMIM:615297
HP:0000965	Cutis marmorata	54567	DLL4	ORPHA:974
HP:0000965	Cutis marmorata	54567	DLL4	OMIM:616589
HP:0000965	Cutis marmorata	2767	GNA11	ORPHA:1556
HP:0000965	Cutis marmorata	151188	ARL6IP6	ORPHA:1556
HP:0000965	Cutis marmorata	79068	FTO	OMIM:612938
HP:0000965	Cutis marmorata	6197	RPS6KA3	OMIM:303600
HP:0000965	Cutis marmorata	5422	POLA1	OMIM:301220
HP:0000965	Cutis marmorata	57492	ARID1B	OMIM:135900
HP:0000965	Cutis marmorata	1663	DDX11	OMIM:613398
HP:0000965	Cutis marmorata	340061	STING1	OMIM:615934
HP:0000965	Cutis marmorata	10000	AKT3	OMIM:615937
HP:0000965	Cutis marmorata	875	CBS	OMIM:236200
HP:0000965	Cutis marmorata	51574	LARP7	ORPHA:319671
HP:0000965	Cutis marmorata	4615	MYD88	ORPHA:33226
HP:0000965	Cutis marmorata	857	CAV1	OMIM:606721
HP:0000965	Cutis marmorata	25	ABL1	OMIM:617602
HP:0000965	Cutis marmorata	10535	RNASEH2A	ORPHA:51
HP:0000965	Cutis marmorata	84153	RNASEH2C	ORPHA:51
HP:0000965	Cutis marmorata	25939	SAMHD1	ORPHA:51
HP:0000965	Cutis marmorata	79621	RNASEH2B	ORPHA:51
HP:0000965	Cutis marmorata	103	ADAR	ORPHA:51
HP:0000965	Cutis marmorata	11277	TREX1	ORPHA:51
HP:0000965	Cutis marmorata	100147744	RNU7-1	ORPHA:51
HP:0000965	Cutis marmorata	134353	LSM11	ORPHA:51
HP:0000965	Cutis marmorata	64135	IFIH1	ORPHA:51
HP:0000965	Cutis marmorata	7046	TGFBR1	ORPHA:91387
HP:0000965	Cutis marmorata	7048	TGFBR2	ORPHA:91387
HP:0000965	Cutis marmorata	4015	LOX	ORPHA:91387
HP:0000965	Cutis marmorata	4087	SMAD2	ORPHA:91387
HP:0000965	Cutis marmorata	7043	TGFB3	ORPHA:91387
HP:0000965	Cutis marmorata	4088	SMAD3	ORPHA:91387
HP:0000965	Cutis marmorata	7042	TGFB2	ORPHA:91387
HP:0000965	Cutis marmorata	4089	SMAD4	ORPHA:91387
HP:0000965	Cutis marmorata	2200	FBN1	ORPHA:91387
HP:0000965	Cutis marmorata	59	ACTA2	ORPHA:91387
HP:0000965	Cutis marmorata	5592	PRKG1	ORPHA:91387
HP:0000965	Cutis marmorata	2301	FOXE3	ORPHA:91387
HP:0000965	Cutis marmorata	4144	MAT2A	ORPHA:91387
HP:0000965	Cutis marmorata	23493	HEY2	ORPHA:91387
HP:0000965	Cutis marmorata	8076	MFAP5	ORPHA:91387
HP:0000965	Cutis marmorata	4638	MYLK	ORPHA:91387
HP:0000965	Cutis marmorata	79875	THSD4	ORPHA:91387
HP:0000965	Cutis marmorata	2006	ELN	ORPHA:91387
HP:0000965	Cutis marmorata	9898	UBAP2L	OMIM:620494
HP:0001038	Warfarin-induced skin necrosis	5624	PROC	OMIM:176860
HP:0001038	Warfarin-induced skin necrosis	5624	PROC	ORPHA:745
HP:0001038	Warfarin-induced skin necrosis	5627	PROS1	OMIM:612336
HP:0001039	Atheroeruptive xanthoma	116519	APOA5	OMIM:145750
HP:0004273	Cupped metaphyses of hand bones	5251	PHEX	OMIM:307800
HP:0009769	Bullet-shaped phalanges of the hand	79158	GNPTAB	OMIM:252500
HP:0009769	Bullet-shaped phalanges of the hand	4784	NFIX	OMIM:602535
HP:0004295	Abnormal gastric mucosa morphology	4790	NFKB1	OMIM:616576
HP:0004295	Abnormal gastric mucosa morphology	64135	IFIH1	OMIM:615846
HP:0004295	Abnormal gastric mucosa morphology	987	LRBA	OMIM:614700
HP:0004295	Abnormal gastric mucosa morphology	326	AIRE	OMIM:240300
HP:0004295	Abnormal gastric mucosa morphology	50619	DEF6	OMIM:619573
HP:0004295	Abnormal gastric mucosa morphology	1493	CTLA4	OMIM:616100
HP:0004295	Abnormal gastric mucosa morphology	1493	CTLA4	ORPHA:436159
HP:0004295	Abnormal gastric mucosa morphology	999	CDH1	OMIM:137215
HP:0004295	Abnormal gastric mucosa morphology	6774	STAT3	OMIM:147060
HP:0004295	Abnormal gastric mucosa morphology	493856	CISD2	ORPHA:3463
HP:0004295	Abnormal gastric mucosa morphology	7466	WFS1	ORPHA:3463
HP:0004295	Abnormal gastric mucosa morphology	57492	ARID1B	OMIM:135900
HP:0004295	Abnormal gastric mucosa morphology	2629	GBA1	ORPHA:2072
HP:0004295	Abnormal gastric mucosa morphology	5321	PLA2G4A	OMIM:618372
HP:0004295	Abnormal gastric mucosa morphology	1244	ABCC2	ORPHA:234
HP:0004295	Abnormal gastric mucosa morphology	6804	STX1A	ORPHA:904
HP:0004295	Abnormal gastric mucosa morphology	7461	CLIP2	ORPHA:904
HP:0004295	Abnormal gastric mucosa morphology	84277	DNAJC30	ORPHA:904
HP:0004295	Abnormal gastric mucosa morphology	8468	FKBP6	ORPHA:904
HP:0004295	Abnormal gastric mucosa morphology	5982	RFC2	ORPHA:904
HP:0004295	Abnormal gastric mucosa morphology	2969	GTF2I	ORPHA:904
HP:0004295	Abnormal gastric mucosa morphology	3984	LIMK1	ORPHA:904
HP:0004295	Abnormal gastric mucosa morphology	9569	GTF2IRD1	ORPHA:904
HP:0004295	Abnormal gastric mucosa morphology	155382	VPS37D	ORPHA:904
HP:0004295	Abnormal gastric mucosa morphology	155368	METTL27	ORPHA:904
HP:0004295	Abnormal gastric mucosa morphology	114049	BUD23	ORPHA:904
HP:0004295	Abnormal gastric mucosa morphology	7458	EIF4H	ORPHA:904
HP:0004295	Abnormal gastric mucosa morphology	84163	GTF2IRD2	ORPHA:904
HP:0004295	Abnormal gastric mucosa morphology	26608	TBL2	ORPHA:904
HP:0004295	Abnormal gastric mucosa morphology	653361	NCF1	ORPHA:904
HP:0004295	Abnormal gastric mucosa morphology	135886	TMEM270	ORPHA:904
HP:0004295	Abnormal gastric mucosa morphology	9031	BAZ1B	ORPHA:904
HP:0004295	Abnormal gastric mucosa morphology	2006	ELN	ORPHA:904
HP:0004295	Abnormal gastric mucosa morphology	3930	LBR	ORPHA:779
HP:0004295	Abnormal gastric mucosa morphology	2000	ELF4	OMIM:301074
HP:0004295	Abnormal gastric mucosa morphology	10526	IPO8	OMIM:619472
HP:0004295	Abnormal gastric mucosa morphology	3514	IGKC	ORPHA:183675
HP:0004295	Abnormal gastric mucosa morphology	3501	IGHG2	ORPHA:183675
HP:0004295	Abnormal gastric mucosa morphology	54914	FOCAD	OMIM:619991
HP:0004295	Abnormal gastric mucosa morphology	9652	SKIC3	ORPHA:84064
HP:0004295	Abnormal gastric mucosa morphology	6499	SKIC2	ORPHA:84064
HP:0004295	Abnormal gastric mucosa morphology	6850	SYK	OMIM:619381
HP:0004295	Abnormal gastric mucosa morphology	50943	FOXP3	ORPHA:37042
HP:0004295	Abnormal gastric mucosa morphology	355	FAS	ORPHA:3261
HP:0004295	Abnormal gastric mucosa morphology	356	FASLG	ORPHA:3261
HP:0004295	Abnormal gastric mucosa morphology	843	CASP10	ORPHA:3261
HP:0004295	Abnormal gastric mucosa morphology	8737	RIPK1	OMIM:618108
HP:0004295	Abnormal gastric mucosa morphology	22900	CARD8	OMIM:619079
HP:0004296	Abnormal gastrointestinal vascular morphology	94	ACVRL1	OMIM:600376
HP:0004296	Abnormal gastrointestinal vascular morphology	2022	ENG	OMIM:187300
HP:0004296	Abnormal gastrointestinal vascular morphology	7450	VWF	OMIM:193400
HP:0004296	Abnormal gastrointestinal vascular morphology	80169	CTC1	OMIM:612199
HP:0004296	Abnormal gastrointestinal vascular morphology	2658	GDF2	ORPHA:774
HP:0004296	Abnormal gastrointestinal vascular morphology	4089	SMAD4	ORPHA:774
HP:0004296	Abnormal gastrointestinal vascular morphology	11146	GLMN	ORPHA:83454
HP:0004297	Abnormality of the biliary system	3561	IL2RG	ORPHA:276
HP:0004297	Abnormality of the biliary system	229	ALDOB	OMIM:229600
HP:0004297	Abnormality of the biliary system	229	ALDOB	ORPHA:469
HP:0004297	Abnormality of the biliary system	55532	SLC30A10	ORPHA:309854
HP:0004297	Abnormality of the biliary system	3783	KCNN4	OMIM:616689
HP:0004297	Abnormality of the biliary system	8573	CASK	OMIM:300908
HP:0004297	Abnormality of the biliary system	2539	G6PD	OMIM:300908
HP:0004297	Abnormality of the biliary system	3048	HBG2	OMIM:613977
HP:0004297	Abnormality of the biliary system	5830	PEX5	OMIM:214110
HP:0004297	Abnormality of the biliary system	5830	PEX5	ORPHA:912
HP:0004297	Abnormality of the biliary system	2038	EPB42	ORPHA:822
HP:0004297	Abnormality of the biliary system	2038	EPB42	OMIM:612690
HP:0004297	Abnormality of the biliary system	6521	SLC4A1	ORPHA:822
HP:0004297	Abnormality of the biliary system	6521	SLC4A1	OMIM:612653
HP:0004297	Abnormality of the biliary system	6710	SPTB	ORPHA:822
HP:0004297	Abnormality of the biliary system	6710	SPTB	ORPHA:288
HP:0004297	Abnormality of the biliary system	6710	SPTB	OMIM:616649
HP:0004297	Abnormality of the biliary system	6708	SPTA1	ORPHA:822
HP:0004297	Abnormality of the biliary system	6708	SPTA1	ORPHA:288
HP:0004297	Abnormality of the biliary system	286	ANK1	ORPHA:822
HP:0004297	Abnormality of the biliary system	286	ANK1	OMIM:182900
HP:0004297	Abnormality of the biliary system	6005	RHAG	OMIM:185000
HP:0004297	Abnormality of the biliary system	6005	RHAG	ORPHA:71275
HP:0004297	Abnormality of the biliary system	6005	RHAG	OMIM:268150
HP:0004297	Abnormality of the biliary system	55687	TRMU	OMIM:613070
HP:0004297	Abnormality of the biliary system	3043	HBB	OMIM:603903
HP:0004297	Abnormality of the biliary system	3043	HBB	ORPHA:232
HP:0004297	Abnormality of the biliary system	3043	HBB	ORPHA:231214
HP:0004297	Abnormality of the biliary system	3043	HBB	ORPHA:231222
HP:0004297	Abnormality of the biliary system	3043	HBB	ORPHA:231226
HP:0004297	Abnormality of the biliary system	8942	KYNU	OMIM:236800
HP:0004297	Abnormality of the biliary system	28234	SLCO1B3	OMIM:237450
HP:0004297	Abnormality of the biliary system	28234	SLCO1B3	ORPHA:3111
HP:0004297	Abnormality of the biliary system	10599	SLCO1B1	OMIM:237450
HP:0004297	Abnormality of the biliary system	10599	SLCO1B1	ORPHA:3111
HP:0004297	Abnormality of the biliary system	1716	DGUOK	OMIM:251880
HP:0004297	Abnormality of the biliary system	2035	EPB41	ORPHA:288
HP:0004297	Abnormality of the biliary system	2035	EPB41	OMIM:611804
HP:0004297	Abnormality of the biliary system	2995	GYPC	ORPHA:288
HP:0004297	Abnormality of the biliary system	1130	LYST	ORPHA:167
HP:0004297	Abnormality of the biliary system	1130	LYST	OMIM:214500
HP:0004297	Abnormality of the biliary system	5313	PKLR	OMIM:266200
HP:0004297	Abnormality of the biliary system	63894	VIPAS39	OMIM:613404
HP:0004297	Abnormality of the biliary system	2313	FLI1	ORPHA:370348
HP:0004297	Abnormality of the biliary system	51594	NBAS	OMIM:616483
HP:0004297	Abnormality of the biliary system	5311	PKD2	OMIM:613095
HP:0004297	Abnormality of the biliary system	10068	IL18BP	OMIM:618549
HP:0004297	Abnormality of the biliary system	2592	GALT	OMIM:230400
HP:0004297	Abnormality of the biliary system	2592	GALT	ORPHA:79239
HP:0004297	Abnormality of the biliary system	5428	POLG	OMIM:203700
HP:0004297	Abnormality of the biliary system	5551	PRF1	OMIM:603553
HP:0004297	Abnormality of the biliary system	5551	PRF1	ORPHA:540
HP:0004297	Abnormality of the biliary system	8676	STX11	OMIM:603552
HP:0004297	Abnormality of the biliary system	8676	STX11	ORPHA:540
HP:0004297	Abnormality of the biliary system	5205	ATP8B1	ORPHA:69665
HP:0004297	Abnormality of the biliary system	5205	ATP8B1	OMIM:211600
HP:0004297	Abnormality of the biliary system	5205	ATP8B1	OMIM:147480
HP:0004297	Abnormality of the biliary system	8647	ABCB11	ORPHA:69665
HP:0004297	Abnormality of the biliary system	8647	ABCB11	OMIM:605479
HP:0004297	Abnormality of the biliary system	9971	NR1H4	ORPHA:69665
HP:0004297	Abnormality of the biliary system	9971	NR1H4	OMIM:617049
HP:0004297	Abnormality of the biliary system	55670	PEX26	OMIM:614872
HP:0004297	Abnormality of the biliary system	55670	PEX26	ORPHA:912
HP:0004297	Abnormality of the biliary system	11231	SEC63	ORPHA:2924
HP:0004297	Abnormality of the biliary system	5589	PRKCSH	ORPHA:2924
HP:0004297	Abnormality of the biliary system	4041	LRP5	ORPHA:2924
HP:0004297	Abnormality of the biliary system	9409	PEX16	OMIM:614876
HP:0004297	Abnormality of the biliary system	9409	PEX16	ORPHA:912
HP:0004297	Abnormality of the biliary system	2729	GCLC	ORPHA:33574
HP:0004297	Abnormality of the biliary system	91949	COG7	ORPHA:79333
HP:0004297	Abnormality of the biliary system	91949	COG7	OMIM:608779
HP:0004297	Abnormality of the biliary system	811	CALR	ORPHA:131
HP:0004297	Abnormality of the biliary system	3717	JAK2	ORPHA:131
HP:0004297	Abnormality of the biliary system	2153	F5	ORPHA:131
HP:0004297	Abnormality of the biliary system	11330	CTRC	ORPHA:103918
HP:0004297	Abnormality of the biliary system	11330	CTRC	ORPHA:676
HP:0004297	Abnormality of the biliary system	6690	SPINK1	ORPHA:103918
HP:0004297	Abnormality of the biliary system	6690	SPINK1	ORPHA:676
HP:0004297	Abnormality of the biliary system	5213	PFKM	OMIM:232800
HP:0004297	Abnormality of the biliary system	5195	PEX14	OMIM:614887
HP:0004297	Abnormality of the biliary system	5195	PEX14	ORPHA:912
HP:0004297	Abnormality of the biliary system	29929	ALG6	ORPHA:79320
HP:0004297	Abnormality of the biliary system	27429	HTRA2	OMIM:617248
HP:0004297	Abnormality of the biliary system	5824	PEX19	ORPHA:912
HP:0004297	Abnormality of the biliary system	8504	PEX3	ORPHA:912
HP:0004297	Abnormality of the biliary system	8799	PEX11B	ORPHA:912
HP:0004297	Abnormality of the biliary system	5190	PEX6	ORPHA:912
HP:0004297	Abnormality of the biliary system	5189	PEX1	ORPHA:912
HP:0004297	Abnormality of the biliary system	5193	PEX12	ORPHA:912
HP:0004297	Abnormality of the biliary system	5194	PEX13	ORPHA:912
HP:0004297	Abnormality of the biliary system	5192	PEX10	ORPHA:912
HP:0004297	Abnormality of the biliary system	6006	RHCE	ORPHA:71275
HP:0004297	Abnormality of the biliary system	6007	RHD	ORPHA:71275
HP:0004297	Abnormality of the biliary system	10159	ATP6AP2	OMIM:301045
HP:0004297	Abnormality of the biliary system	3155	HMGCL	ORPHA:20
HP:0004297	Abnormality of the biliary system	7167	TPI1	OMIM:615512
HP:0004297	Abnormality of the biliary system	763	CA5A	OMIM:615751
HP:0004297	Abnormality of the biliary system	84529	CDIN1	OMIM:615631
HP:0004297	Abnormality of the biliary system	1798	DPAGT1	OMIM:608093
HP:0004297	Abnormality of the biliary system	3875	KRT18	OMIM:215600
HP:0004297	Abnormality of the biliary system	4023	LPL	OMIM:238600
HP:0004297	Abnormality of the biliary system	9780	PIEZO1	OMIM:194380
HP:0004297	Abnormality of the biliary system	201294	UNC13D	ORPHA:540
HP:0004297	Abnormality of the biliary system	6813	STXBP2	ORPHA:540
HP:0004297	Abnormality of the biliary system	672	BRCA1	ORPHA:70567
HP:0004297	Abnormality of the biliary system	672	BRCA1	ORPHA:1333
HP:0004297	Abnormality of the biliary system	675	BRCA2	ORPHA:70567
HP:0004297	Abnormality of the biliary system	675	BRCA2	ORPHA:1333
HP:0004297	Abnormality of the biliary system	5774	PTPN3	ORPHA:70567
HP:0004297	Abnormality of the biliary system	6098	ROS1	ORPHA:70567
HP:0004297	Abnormality of the biliary system	11093	ADAMTS13	OMIM:274150
HP:0004297	Abnormality of the biliary system	6513	SLC2A1	OMIM:608885
HP:0004297	Abnormality of the biliary system	6513	SLC2A1	ORPHA:168577
HP:0004297	Abnormality of the biliary system	7849	PAX8	ORPHA:95720
HP:0004297	Abnormality of the biliary system	7849	PAX8	ORPHA:95712
HP:0004297	Abnormality of the biliary system	7253	TSHR	ORPHA:95720
HP:0004297	Abnormality of the biliary system	5172	SLC26A4	ORPHA:95720
HP:0004297	Abnormality of the biliary system	51218	GLRX5	OMIM:616860
HP:0004297	Abnormality of the biliary system	2821	GPI	OMIM:613470
HP:0004297	Abnormality of the biliary system	8260	NAA10	OMIM:300855
HP:0004297	Abnormality of the biliary system	3431	SP110	ORPHA:79124
HP:0004297	Abnormality of the biliary system	1482	NKX2-5	ORPHA:95712
HP:0004297	Abnormality of the biliary system	5277	PIGA	ORPHA:447
HP:0004297	Abnormality of the biliary system	7289	TULP3	OMIM:619902
HP:0004297	Abnormality of the biliary system	285282	RABL3	ORPHA:1333
HP:0004297	Abnormality of the biliary system	7157	TP53	ORPHA:1333
HP:0004297	Abnormality of the biliary system	3845	KRAS	ORPHA:1333
HP:0004297	Abnormality of the biliary system	1029	CDKN2A	ORPHA:1333
HP:0004297	Abnormality of the biliary system	79728	PALB2	ORPHA:1333
HP:0004297	Abnormality of the biliary system	4089	SMAD4	ORPHA:1333
HP:0004297	Abnormality of the biliary system	23022	PALLD	ORPHA:1333
HP:0004297	Abnormality of the biliary system	4548	MTR	OMIM:250940
HP:0004297	Abnormality of the biliary system	84701	COX4I2	OMIM:612714
HP:0004297	Abnormality of the biliary system	9493	KIF23	OMIM:105600
HP:0004297	Abnormality of the biliary system	5873	RAB27A	ORPHA:79477
HP:0004297	Abnormality of the biliary system	5644	PRSS1	ORPHA:676
HP:0004297	Abnormality of the biliary system	5645	PRSS2	ORPHA:676
HP:0004297	Abnormality of the biliary system	55503	TRPV6	ORPHA:676
HP:0004297	Abnormality of the biliary system	846	CASR	ORPHA:676
HP:0004297	Abnormality of the biliary system	1080	CFTR	ORPHA:676
HP:0004297	Abnormality of the biliary system	1357	CPA1	ORPHA:676
HP:0004297	Abnormality of the biliary system	9997	SCO2	OMIM:604377
HP:0004297	Abnormality of the biliary system	570	BAAT	OMIM:619232
HP:0004297	Abnormality of the biliary system	6711	SPTBN1	OMIM:619475
HP:0004297	Abnormality of the biliary system	286410	ATP11C	OMIM:301015
HP:0004297	Abnormality of the biliary system	3594	IL12RB1	ORPHA:186
HP:0004297	Abnormality of the biliary system	23534	TNPO3	ORPHA:186
HP:0004297	Abnormality of the biliary system	3592	IL12A	ORPHA:186
HP:0004297	Abnormality of the biliary system	6689	SPIB	ORPHA:186
HP:0004297	Abnormality of the biliary system	5450	POU2AF1	ORPHA:186
HP:0004297	Abnormality of the biliary system	9966	TNFSF15	ORPHA:186
HP:0004297	Abnormality of the biliary system	79258	MMEL1	ORPHA:186
HP:0004297	Abnormality of the biliary system	3663	IRF5	ORPHA:186
HP:0004297	Abnormality of the biliary system	10483	SEC23B	OMIM:224100
HP:0004297	Abnormality of the biliary system	51124	IER3IP1	OMIM:614231
HP:0004297	Abnormality of the biliary system	3098	HK1	OMIM:235700
HP:0004297	Abnormality of the biliary system	226	ALDOA	OMIM:611881
HP:0004297	Abnormality of the biliary system	100506658	OCLN	OMIM:251290
HP:0004297	Abnormality of the biliary system	2215	FCGR3B	ORPHA:464370
HP:0004297	Abnormality of the biliary system	10577	NPC2	OMIM:607625
HP:0004297	Abnormality of the biliary system	7390	UROS	OMIM:263700
HP:0004297	Abnormality of the biliary system	5449	POU1F1	OMIM:613038
HP:0004297	Abnormality of the biliary system	25974	MMACHC	ORPHA:79282
HP:0004297	Abnormality of the biliary system	1371	CPOX	OMIM:121300
HP:0004297	Abnormality of the biliary system	1719	DHFR	OMIM:613839
HP:0004297	Abnormality of the biliary system	9451	EIF2AK3	ORPHA:1667
HP:0004297	Abnormality of the biliary system	37	ACADVL	ORPHA:26793
HP:0004297	Abnormality of the biliary system	2110	ETFDH	OMIM:231680
HP:0004297	Abnormality of the biliary system	2108	ETFA	OMIM:231680
HP:0004297	Abnormality of the biliary system	2109	ETFB	OMIM:231680
HP:0004297	Abnormality of the biliary system	3988	LIPA	ORPHA:75234
HP:0004297	Abnormality of the biliary system	2582	GALE	OMIM:230350
HP:0004297	Abnormality of the biliary system	157570	ESCO2	OMIM:268300
HP:0004297	Abnormality of the biliary system	1244	ABCC2	ORPHA:234
HP:0004297	Abnormality of the biliary system	1244	ABCC2	OMIM:237500
HP:0004297	Abnormality of the biliary system	6928	HNF1B	OMIM:137920
HP:0004297	Abnormality of the biliary system	145173	B3GLCT	OMIM:261540
HP:0004297	Abnormality of the biliary system	4261	CIITA	OMIM:209920
HP:0004297	Abnormality of the biliary system	6794	STK11	OMIM:175200
HP:0004297	Abnormality of the biliary system	84100	ARL6	OMIM:209900
HP:0004297	Abnormality of the biliary system	79140	CCDC28B	OMIM:209900
HP:0004297	Abnormality of the biliary system	582	BBS1	OMIM:209900
HP:0004297	Abnormality of the biliary system	7468	NSD2	OMIM:194190
HP:0004297	Abnormality of the biliary system	10815	CPLX1	OMIM:194190
HP:0004297	Abnormality of the biliary system	1487	CTBP1	OMIM:194190
HP:0004297	Abnormality of the biliary system	53834	FGFRL1	OMIM:194190
HP:0004297	Abnormality of the biliary system	3954	LETM1	OMIM:194190
HP:0004297	Abnormality of the biliary system	54658	UGT1A1	ORPHA:79234
HP:0004297	Abnormality of the biliary system	80270	HSD3B7	ORPHA:79301
HP:0004297	Abnormality of the biliary system	27183	VPS4A	OMIM:619273
HP:0004297	Abnormality of the biliary system	2235	FECH	OMIM:177000
HP:0004297	Abnormality of the biliary system	2235	FECH	ORPHA:79278
HP:0004297	Abnormality of the biliary system	57003	CCDC47	OMIM:618268
HP:0004297	Abnormality of the biliary system	212	ALAS2	OMIM:300752
HP:0004297	Abnormality of the biliary system	6804	STX1A	ORPHA:904
HP:0004297	Abnormality of the biliary system	7461	CLIP2	ORPHA:904
HP:0004297	Abnormality of the biliary system	84277	DNAJC30	ORPHA:904
HP:0004297	Abnormality of the biliary system	8468	FKBP6	ORPHA:904
HP:0004297	Abnormality of the biliary system	5982	RFC2	ORPHA:904
HP:0004297	Abnormality of the biliary system	2969	GTF2I	ORPHA:904
HP:0004297	Abnormality of the biliary system	3984	LIMK1	ORPHA:904
HP:0004297	Abnormality of the biliary system	9569	GTF2IRD1	ORPHA:904
HP:0004297	Abnormality of the biliary system	155382	VPS37D	ORPHA:904
HP:0004297	Abnormality of the biliary system	155368	METTL27	ORPHA:904
HP:0004297	Abnormality of the biliary system	114049	BUD23	ORPHA:904
HP:0004297	Abnormality of the biliary system	7458	EIF4H	ORPHA:904
HP:0004297	Abnormality of the biliary system	84163	GTF2IRD2	ORPHA:904
HP:0004297	Abnormality of the biliary system	26608	TBL2	ORPHA:904
HP:0004297	Abnormality of the biliary system	653361	NCF1	ORPHA:904
HP:0004297	Abnormality of the biliary system	135886	TMEM270	ORPHA:904
HP:0004297	Abnormality of the biliary system	9031	BAZ1B	ORPHA:904
HP:0004297	Abnormality of the biliary system	2006	ELN	ORPHA:904
HP:0004297	Abnormality of the biliary system	6340	SCNN1G	ORPHA:171876
HP:0004297	Abnormality of the biliary system	6337	SCNN1A	ORPHA:171876
HP:0004297	Abnormality of the biliary system	6338	SCNN1B	ORPHA:171876
HP:0004297	Abnormality of the biliary system	1760	DMPK	OMIM:160900
HP:0004297	Abnormality of the biliary system	7030	TFE3	OMIM:301066
HP:0004297	Abnormality of the biliary system	8242	KDM5C	OMIM:300534
HP:0004297	Abnormality of the biliary system	326	AIRE	OMIM:240300
HP:0004297	Abnormality of the biliary system	81857	MED25	ORPHA:464738
HP:0004297	Abnormality of the biliary system	54148	MRPL39	OMIM:620646
HP:0004297	Abnormality of the biliary system	10020	GNE	ORPHA:3166
HP:0004297	Abnormality of the biliary system	1312	COMT	ORPHA:567
HP:0004297	Abnormality of the biliary system	221037	JMJD1C	ORPHA:567
HP:0004297	Abnormality of the biliary system	2812	GP1BB	ORPHA:567
HP:0004297	Abnormality of the biliary system	6239	RREB1	ORPHA:567
HP:0004297	Abnormality of the biliary system	6899	TBX1	ORPHA:567
HP:0004297	Abnormality of the biliary system	6899	TBX1	OMIM:188400
HP:0004297	Abnormality of the biliary system	7290	HIRA	ORPHA:567
HP:0004297	Abnormality of the biliary system	9632	SEC24C	ORPHA:567
HP:0004297	Abnormality of the biliary system	7353	UFD1	ORPHA:567
HP:0004297	Abnormality of the biliary system	421	ARVCF	ORPHA:567
HP:0004297	Abnormality of the biliary system	83550	GPR101	ORPHA:963
HP:0004297	Abnormality of the biliary system	9049	AIP	ORPHA:963
HP:0004297	Abnormality of the biliary system	171023	ASXL1	ORPHA:97297
HP:0004297	Abnormality of the biliary system	7386	UQCRFS1	OMIM:618775
HP:0004297	Abnormality of the biliary system	64241	ABCG8	OMIM:611465
HP:0004297	Abnormality of the biliary system	3708	ITPR1	OMIM:206700
HP:0004297	Abnormality of the biliary system	57104	PNPLA2	ORPHA:98908
HP:0004297	Abnormality of the biliary system	25913	POT1	OMIM:620367
HP:0004297	Abnormality of the biliary system	4204	MECP2	ORPHA:778
HP:0004297	Abnormality of the biliary system	538	ATP7A	ORPHA:198
HP:0004297	Abnormality of the biliary system	5122	PCSK1	ORPHA:71528
HP:0004297	Abnormality of the biliary system	222546	RFX6	OMIM:615710
HP:0004297	Abnormality of the biliary system	26160	IFT172	OMIM:615630
HP:0004297	Abnormality of the biliary system	132	ADK	OMIM:614300
HP:0004297	Abnormality of the biliary system	5828	PEX2	OMIM:614866
HP:0004297	Abnormality of the biliary system	85476	GFM1	OMIM:609060
HP:0004297	Abnormality of the biliary system	57539	WDR35	OMIM:613610
HP:0004297	Abnormality of the biliary system	5443	POMC	ORPHA:71526
HP:0004297	Abnormality of the biliary system	5443	POMC	OMIM:609734
HP:0004297	Abnormality of the biliary system	5265	SERPINA1	ORPHA:60
HP:0004297	Abnormality of the biliary system	3032	HADHB	ORPHA:746
HP:0004297	Abnormality of the biliary system	3030	HADHA	ORPHA:746
HP:0004297	Abnormality of the biliary system	3030	HADHA	OMIM:609015
HP:0004297	Abnormality of the biliary system	10056	FARSB	OMIM:613658
HP:0004297	Abnormality of the biliary system	5314	PKHD1	ORPHA:53035
HP:0004297	Abnormality of the biliary system	5314	PKHD1	ORPHA:731
HP:0004297	Abnormality of the biliary system	9420	CYP7B1	ORPHA:79302
HP:0004297	Abnormality of the biliary system	6718	AKR1D1	ORPHA:79303
HP:0004297	Abnormality of the biliary system	215	ABCD1	ORPHA:369942
HP:0004297	Abnormality of the biliary system	10134	BCAP31	ORPHA:369942
HP:0004297	Abnormality of the biliary system	617	BCS1L	OMIM:603358
HP:0004297	Abnormality of the biliary system	617	BCS1L	OMIM:124000
HP:0004297	Abnormality of the biliary system	617	BCS1L	ORPHA:53693
HP:0004297	Abnormality of the biliary system	9095	TBX19	OMIM:201400
HP:0004297	Abnormality of the biliary system	374879	ZNF699	OMIM:619488
HP:0004297	Abnormality of the biliary system	27031	NPHP3	OMIM:208540
HP:0004297	Abnormality of the biliary system	27031	NPHP3	OMIM:267010
HP:0004297	Abnormality of the biliary system	4141	MARS1	OMIM:615486
HP:0004297	Abnormality of the biliary system	5244	ABCB4	OMIM:600803
HP:0004297	Abnormality of the biliary system	6288	SAA1	ORPHA:85445
HP:0004297	Abnormality of the biliary system	644	BLVRA	OMIM:614156
HP:0004297	Abnormality of the biliary system	169792	GLIS3	OMIM:610199
HP:0004297	Abnormality of the biliary system	51473	DCDC2	ORPHA:84081
HP:0004297	Abnormality of the biliary system	51473	DCDC2	OMIM:616217
HP:0004297	Abnormality of the biliary system	51473	DCDC2	OMIM:617394
HP:0004297	Abnormality of the biliary system	91147	TMEM67	ORPHA:84081
HP:0004297	Abnormality of the biliary system	182	JAG1	OMIM:118450
HP:0004297	Abnormality of the biliary system	10165	SLC25A13	ORPHA:247598
HP:0004297	Abnormality of the biliary system	23729	SHPK	ORPHA:440713
HP:0004297	Abnormality of the biliary system	5573	PRKAR1A	ORPHA:615
HP:0004297	Abnormality of the biliary system	9076	CLDN1	ORPHA:59303
HP:0004297	Abnormality of the biliary system	9076	CLDN1	OMIM:607626
HP:0004297	Abnormality of the biliary system	10551	AGR2	OMIM:620233
HP:0004297	Abnormality of the biliary system	199221	DZIP1L	ORPHA:731
HP:0004297	Abnormality of the biliary system	9968	MED12	OMIM:301068
HP:0004297	Abnormality of the biliary system	55898	UNC45A	OMIM:619377
HP:0004297	Abnormality of the biliary system	60561	RINT1	OMIM:618641
HP:0004297	Abnormality of the biliary system	2859	GPR35	ORPHA:171
HP:0004297	Abnormality of the biliary system	10507	SEMA4D	ORPHA:171
HP:0004297	Abnormality of the biliary system	4485	MST1	ORPHA:171
HP:0004297	Abnormality of the biliary system	6925	TCF4	ORPHA:171
HP:0004297	Abnormality of the biliary system	79989	IFT56	OMIM:619534
HP:0004297	Abnormality of the biliary system	3930	LBR	OMIM:613471
HP:0004297	Abnormality of the biliary system	537	ATP6AP1	OMIM:300972
HP:0004297	Abnormality of the biliary system	50619	DEF6	OMIM:619573
HP:0004297	Abnormality of the biliary system	9652	SKIC3	OMIM:222470
HP:0004297	Abnormality of the biliary system	7019	TFAM	OMIM:617156
HP:0004297	Abnormality of the biliary system	3643	INSR	OMIM:246200
HP:0004297	Abnormality of the biliary system	11232	POLG2	OMIM:618528
HP:0004297	Abnormality of the biliary system	4358	MPV17	OMIM:256810
HP:0004297	Abnormality of the biliary system	10616	RBCK1	OMIM:615895
HP:0004297	Abnormality of the biliary system	130589	GALM	ORPHA:570422
HP:0004297	Abnormality of the biliary system	383	ARG1	OMIM:207800
HP:0004297	Abnormality of the biliary system	3376	IARS1	ORPHA:541423
HP:0004297	Abnormality of the biliary system	54532	USP53	OMIM:619658
HP:0004297	Abnormality of the biliary system	284086	NEK8	OMIM:615415
HP:0004297	Abnormality of the biliary system	3295	HSD17B4	OMIM:261515
HP:0004297	Abnormality of the biliary system	4853	NOTCH2	OMIM:610205
HP:0004297	Abnormality of the biliary system	26146	TRAF3IP1	OMIM:616629
HP:0004297	Abnormality of the biliary system	124454	EARS2	OMIM:614924
HP:0004297	Abnormality of the biliary system	1581	CYP7A1	ORPHA:209902
HP:0004297	Abnormality of the biliary system	2778	GNAS	ORPHA:562
HP:0004297	Abnormality of the biliary system	203286	ANKS6	OMIM:615382
HP:0004297	Abnormality of the biliary system	9742	IFT140	OMIM:266920
HP:0004297	Abnormality of the biliary system	5256	PHKA2	ORPHA:264580
HP:0004297	Abnormality of the biliary system	5261	PHKG2	ORPHA:264580
HP:0004297	Abnormality of the biliary system	113220	KIF12	OMIM:619662
HP:0004297	Abnormality of the biliary system	57511	COG6	OMIM:614576
HP:0004297	Abnormality of the biliary system	51134	CEP83	OMIM:615862
HP:0004297	Abnormality of the biliary system	2783	GNB2	OMIM:619503
HP:0004297	Abnormality of the biliary system	79053	ALG8	OMIM:608104
HP:0004297	Abnormality of the biliary system	6811	STX5	OMIM:620454
HP:0004297	Abnormality of the biliary system	1174	AP1S1	OMIM:609313
HP:0004297	Abnormality of the biliary system	4067	LYN	OMIM:620376
HP:0004297	Abnormality of the biliary system	26276	VPS33B	OMIM:620010
HP:0004297	Abnormality of the biliary system	2243	FGA	OMIM:105200
HP:0004297	Abnormality of the biliary system	2271	FH	OMIM:606812
HP:0004297	Abnormality of the biliary system	6309	SC5D	ORPHA:46059
HP:0004297	Abnormality of the biliary system	6309	SC5D	OMIM:607330
HP:0004297	Abnormality of the biliary system	9414	TJP2	OMIM:615878
HP:0004297	Abnormality of the biliary system	5236	PGM1	OMIM:614921
HP:0004297	Abnormality of the biliary system	23600	AMACR	OMIM:214950
HP:0004297	Abnormality of the biliary system	197131	UBR1	OMIM:243800
HP:0004297	Abnormality of the biliary system	55610	VPS50	OMIM:619685
HP:0004297	Abnormality of the biliary system	6514	SLC2A2	OMIM:227810
HP:0004297	Abnormality of the biliary system	162	AP1B1	ORPHA:171851
HP:0004297	Abnormality of the biliary system	200931	SLC51A	OMIM:619484
HP:0004297	Abnormality of the biliary system	125988	MICOS13	OMIM:618329
HP:0004297	Abnormality of the biliary system	80184	CEP290	OMIM:611134
HP:0004297	Abnormality of the biliary system	2542	SLC37A4	OMIM:619525
HP:0004297	Abnormality of the biliary system	51259	TMEM216	OMIM:603194
HP:0004297	Abnormality of the biliary system	4072	EPCAM	ORPHA:92050
HP:0004297	Abnormality of the biliary system	105371045	PERCC1	ORPHA:92050
HP:0004297	Abnormality of the biliary system	50674	NEUROG3	ORPHA:83620
HP:0004297	Abnormality of the biliary system	8565	YARS1	OMIM:619418
HP:0004297	Abnormality of the biliary system	1777	DNASE2	OMIM:619858
HP:0004297	Abnormality of the biliary system	84317	CCDC115	OMIM:616828
HP:0004297	Abnormality of the biliary system	2212	FCGR2A	OMIM:219700
HP:0004297	Abnormality of the biliary system	7040	TGFB1	OMIM:219700
HP:0004297	Abnormality of the biliary system	2629	GBA1	ORPHA:77259
HP:0004297	Abnormality of the biliary system	950	SCARB2	ORPHA:77259
HP:0004297	Abnormality of the biliary system	9361	LONP1	ORPHA:1458
HP:0004297	Abnormality of the biliary system	56623	INPP5E	ORPHA:1454
HP:0004297	Abnormality of the biliary system	26123	TCTN3	OMIM:614815
HP:0004297	Abnormality of the biliary system	1717	DHCR7	ORPHA:818
HP:0004297	Abnormality of the biliary system	54872	PIGG	ORPHA:280
HP:0004297	Abnormality of the biliary system	7469	NELFA	ORPHA:280
HP:0004297	Abnormality of the biliary system	2517	FUCA1	ORPHA:349
HP:0004297	Abnormality of the biliary system	3239	HOXD13	ORPHA:887
HP:0004297	Abnormality of the biliary system	2627	GATA6	OMIM:600001
HP:0004297	Abnormality of the biliary system	2627	GATA6	ORPHA:2255
HP:0004297	Abnormality of the biliary system	7547	ZIC3	OMIM:306955
HP:0004297	Abnormality of the biliary system	2072	ERCC4	OMIM:615272
HP:0004297	Abnormality of the biliary system	84936	ZFYVE19	OMIM:619849
HP:0004297	Abnormality of the biliary system	54903	MKS1	OMIM:249000
HP:0004297	Abnormality of the biliary system	55764	IFT122	OMIM:218330
HP:0004297	Abnormality of the biliary system	80776	B9D2	OMIM:614175
HP:0004297	Abnormality of the biliary system	55788	LMBRD1	ORPHA:79284
HP:0004297	Abnormality of the biliary system	427	ASAH1	ORPHA:333
HP:0004297	Abnormality of the biliary system	10664	CTCF	ORPHA:363611
HP:0004297	Abnormality of the biliary system	23446	SLC44A1	OMIM:618868
HP:0004297	Abnormality of the biliary system	5626	PROP1	ORPHA:226307
HP:0004297	Abnormality of the biliary system	89884	LHX4	ORPHA:226307
HP:0004297	Abnormality of the biliary system	8022	LHX3	ORPHA:226307
HP:0004297	Abnormality of the biliary system	8820	HESX1	ORPHA:226307
HP:0004297	Abnormality of the biliary system	1593	CYP27A1	ORPHA:909
HP:0004297	Abnormality of the biliary system	100151683	RNU4ATAC	OMIM:210710
HP:0004297	Abnormality of the biliary system	2584	GALK1	OMIM:230200
HP:0004297	Abnormality of the biliary system	8405	SPOP	OMIM:618828
HP:0004297	Abnormality of the biliary system	8085	KMT2D	OMIM:620186
HP:0004297	Abnormality of the biliary system	6609	SMPD1	OMIM:257200
HP:0004297	Abnormality of the biliary system	64324	NSD1	ORPHA:821
HP:0004297	Abnormality of the biliary system	64324	NSD1	OMIM:117550
HP:0004297	Abnormality of the biliary system	10297	APC2	ORPHA:821
HP:0004297	Abnormality of the biliary system	123264	SLC51B	OMIM:619481
HP:0004297	Abnormality of the biliary system	5631	PRPS1	ORPHA:423479
HP:0004297	Abnormality of the biliary system	11277	TREX1	OMIM:225750
HP:0004297	Abnormality of the biliary system	11277	TREX1	ORPHA:51
HP:0004297	Abnormality of the biliary system	200894	ARL13B	OMIM:612291
HP:0004297	Abnormality of the biliary system	10525	HYOU1	OMIM:233600
HP:0004297	Abnormality of the biliary system	5184	PEPD	OMIM:170100
HP:0004297	Abnormality of the biliary system	50506	DUOX2	ORPHA:226316
HP:0004297	Abnormality of the biliary system	50506	DUOX2	ORPHA:95716
HP:0004297	Abnormality of the biliary system	55904	KMT2E	OMIM:618512
HP:0004297	Abnormality of the biliary system	25973	PARS2	OMIM:618437
HP:0004297	Abnormality of the biliary system	7252	TSHB	ORPHA:90674
HP:0004297	Abnormality of the biliary system	6554	SLC10A1	OMIM:619256
HP:0004297	Abnormality of the biliary system	405753	DUOXA2	ORPHA:95716
HP:0004297	Abnormality of the biliary system	6528	SLC5A5	ORPHA:95716
HP:0004297	Abnormality of the biliary system	7038	TG	ORPHA:95716
HP:0004297	Abnormality of the biliary system	7173	TPO	ORPHA:95716
HP:0004297	Abnormality of the biliary system	389434	IYD	ORPHA:95716
HP:0004297	Abnormality of the biliary system	7080	NKX2-1	ORPHA:95713
HP:0004297	Abnormality of the biliary system	2304	FOXE1	ORPHA:95713
HP:0004297	Abnormality of the biliary system	4864	NPC1	OMIM:257220
HP:0004297	Abnormality of the biliary system	7201	TRHR	ORPHA:99832
HP:0004297	Abnormality of the biliary system	6567	SLC16A2	ORPHA:59
HP:0004297	Abnormality of the biliary system	2688	GH1	OMIM:262400
HP:0004297	Abnormality of the biliary system	146059	CDAN1	OMIM:224120
HP:0004297	Abnormality of the biliary system	10535	RNASEH2A	ORPHA:51
HP:0004297	Abnormality of the biliary system	84153	RNASEH2C	ORPHA:51
HP:0004297	Abnormality of the biliary system	25939	SAMHD1	ORPHA:51
HP:0004297	Abnormality of the biliary system	79621	RNASEH2B	ORPHA:51
HP:0004297	Abnormality of the biliary system	103	ADAR	ORPHA:51
HP:0004297	Abnormality of the biliary system	100147744	RNU7-1	ORPHA:51
HP:0004297	Abnormality of the biliary system	134353	LSM11	ORPHA:51
HP:0004297	Abnormality of the biliary system	64135	IFIH1	ORPHA:51
HP:0004297	Abnormality of the biliary system	23322	RPGRIP1L	OMIM:619113
HP:0004297	Abnormality of the biliary system	5825	ABCD3	OMIM:616278
HP:0004297	Abnormality of the biliary system	57545	CC2D2A	OMIM:619111
HP:0004297	Abnormality of the biliary system	4645	MYO5B	OMIM:619868
HP:0004297	Abnormality of the biliary system	540	ATP7B	OMIM:277900
HP:0004297	Abnormality of the biliary system	5836	PYGL	ORPHA:369
HP:0004297	Abnormality of the biliary system	4000	LMNA	ORPHA:363618
HP:0004297	Abnormality of the biliary system	2294	FOXF1	ORPHA:210122
HP:0004297	Abnormality of the biliary system	23019	CNOT1	ORPHA:556955
HP:0004297	Abnormality of the biliary system	23019	CNOT1	OMIM:618500
HP:0004297	Abnormality of the biliary system	6651	SON	OMIM:617140
HP:0004297	Abnormality of the biliary system	6651	SON	ORPHA:500150
HP:0004297	Abnormality of the biliary system	27152	INTU	OMIM:617925
HP:0004297	Abnormality of the biliary system	3081	HGD	ORPHA:56
HP:0004297	Abnormality of the biliary system	1027	CDKN1B	ORPHA:276152
HP:0004297	Abnormality of the biliary system	2642	GCGR	ORPHA:438274
HP:0004297	Abnormality of the biliary system	331	XIAP	ORPHA:538934
HP:0004297	Abnormality of the biliary system	5966	REL	OMIM:619652
HP:0004297	Abnormality of the biliary system	50615	IL21R	OMIM:615207
HP:0004297	Abnormality of the biliary system	26525	IL36RN	OMIM:614204
HP:0004297	Abnormality of the biliary system	83737	ITCH	ORPHA:228426
HP:0004297	Abnormality of the biliary system	3514	IGKC	ORPHA:183675
HP:0004297	Abnormality of the biliary system	3501	IGHG2	ORPHA:183675
HP:0004297	Abnormality of the biliary system	654	BMP6	ORPHA:465508
HP:0004297	Abnormality of the biliary system	3077	HFE	ORPHA:465508
HP:0004297	Abnormality of the biliary system	5604	MAP2K1	ORPHA:389
HP:0004297	Abnormality of the biliary system	4893	NRAS	ORPHA:389
HP:0004297	Abnormality of the biliary system	673	BRAF	ORPHA:389
HP:0004297	Abnormality of the biliary system	81704	DOCK8	OMIM:243700
HP:0004297	Abnormality of the biliary system	5994	RFXAP	ORPHA:572
HP:0004297	Abnormality of the biliary system	5993	RFX5	ORPHA:572
HP:0004297	Abnormality of the biliary system	8625	RFXANK	ORPHA:572
HP:0004297	Abnormality of the biliary system	8625	RFXANK	OMIM:620815
HP:0004297	Abnormality of the biliary system	959	CD40LG	OMIM:308230
HP:0004297	Abnormality of the biliary system	57728	WDR19	OMIM:614377
HP:0004297	Abnormality of the biliary system	57728	WDR19	OMIM:616307
HP:0004297	Abnormality of the biliary system	9371	KIF3B	OMIM:618955
HP:0004297	Abnormality of the biliary system	8772	FADD	OMIM:613759
HP:0004297	Abnormality of the biliary system	54914	FOCAD	OMIM:619991
HP:0004297	Abnormality of the biliary system	54894	RNF43	ORPHA:157798
HP:0004297	Abnormality of the biliary system	410	ARSA	ORPHA:309271
HP:0004297	Abnormality of the biliary system	5660	PSAP	ORPHA:309271
HP:0004297	Abnormality of the biliary system	5297	PI4KA	ORPHA:436252
HP:0004297	Abnormality of the biliary system	57217	TTC7A	ORPHA:436252
HP:0004297	Abnormality of the biliary system	11198	SUPT16H	OMIM:619480
HP:0004297	Abnormality of the biliary system	8239	USP9X	ORPHA:480880
HP:0004298	Abnormality of the abdominal wall	8036	SHOC2	OMIM:607721
HP:0004298	Abnormality of the abdominal wall	268	AMH	ORPHA:2856
HP:0004298	Abnormality of the abdominal wall	268	AMH	OMIM:261550
HP:0004298	Abnormality of the abdominal wall	269	AMHR2	ORPHA:2856
HP:0004298	Abnormality of the abdominal wall	269	AMHR2	OMIM:261550
HP:0004298	Abnormality of the abdominal wall	81857	MED25	OMIM:616449
HP:0004298	Abnormality of the abdominal wall	81857	MED25	ORPHA:464738
HP:0004298	Abnormality of the abdominal wall	64220	STRA6	OMIM:601186
HP:0004298	Abnormality of the abdominal wall	65267	WNK3	OMIM:309610
HP:0004298	Abnormality of the abdominal wall	477	ATP1A2	OMIM:619602
HP:0004298	Abnormality of the abdominal wall	129563	DIS3L2	ORPHA:2849
HP:0004298	Abnormality of the abdominal wall	64175	P3H1	OMIM:610915
HP:0004298	Abnormality of the abdominal wall	57589	RIC1	OMIM:618761
HP:0004298	Abnormality of the abdominal wall	25885	POLR1A	OMIM:616462
HP:0004298	Abnormality of the abdominal wall	29940	DSE	ORPHA:2953
HP:0004298	Abnormality of the abdominal wall	29940	DSE	OMIM:615539
HP:0004298	Abnormality of the abdominal wall	1183	CLCN4	ORPHA:485350
HP:0004298	Abnormality of the abdominal wall	23347	SMCHD1	OMIM:603457
HP:0004298	Abnormality of the abdominal wall	23347	SMCHD1	ORPHA:2250
HP:0004298	Abnormality of the abdominal wall	1656	DDX6	OMIM:618653
HP:0004298	Abnormality of the abdominal wall	1501	CTNND2	ORPHA:281
HP:0004298	Abnormality of the abdominal wall	9037	SEMA5A	ORPHA:281
HP:0004298	Abnormality of the abdominal wall	84314	TMEM107	OMIM:617563
HP:0004298	Abnormality of the abdominal wall	2783	GNB2	OMIM:619503
HP:0004298	Abnormality of the abdominal wall	5337	PLD1	OMIM:212093
HP:0004298	Abnormality of the abdominal wall	339983	NAT8L	OMIM:614063
HP:0004298	Abnormality of the abdominal wall	5048	PAFAH1B1	ORPHA:217385
HP:0004298	Abnormality of the abdominal wall	7531	YWHAE	ORPHA:217385
HP:0004298	Abnormality of the abdominal wall	6134	RPL10	ORPHA:459070
HP:0004298	Abnormality of the abdominal wall	6134	RPL10	OMIM:300998
HP:0004298	Abnormality of the abdominal wall	9158	FIBP	OMIM:617107
HP:0004298	Abnormality of the abdominal wall	9158	FIBP	ORPHA:500095
HP:0004298	Abnormality of the abdominal wall	2542	SLC37A4	OMIM:619525
HP:0004298	Abnormality of the abdominal wall	79989	IFT56	OMIM:619534
HP:0004298	Abnormality of the abdominal wall	2260	FGFR1	OMIM:166250
HP:0004298	Abnormality of the abdominal wall	2260	FGFR1	ORPHA:2645
HP:0004298	Abnormality of the abdominal wall	25836	NIPBL	OMIM:122470
HP:0004298	Abnormality of the abdominal wall	2720	GLB1	OMIM:230500
HP:0004298	Abnormality of the abdominal wall	2720	GLB1	OMIM:253010
HP:0004298	Abnormality of the abdominal wall	4052	LTBP1	ORPHA:90349
HP:0004298	Abnormality of the abdominal wall	4052	LTBP1	OMIM:619451
HP:0004298	Abnormality of the abdominal wall	30008	EFEMP2	ORPHA:90349
HP:0004298	Abnormality of the abdominal wall	30008	EFEMP2	OMIM:614437
HP:0004298	Abnormality of the abdominal wall	4212	MEIS2	ORPHA:261190
HP:0004298	Abnormality of the abdominal wall	7046	TGFBR1	OMIM:609192
HP:0004298	Abnormality of the abdominal wall	7046	TGFBR1	ORPHA:91387
HP:0004298	Abnormality of the abdominal wall	78987	CRELD1	OMIM:620771
HP:0004298	Abnormality of the abdominal wall	1801	DPH1	ORPHA:459061
HP:0004298	Abnormality of the abdominal wall	1802	DPH2	ORPHA:459061
HP:0004298	Abnormality of the abdominal wall	1859	DYRK1A	ORPHA:268261
HP:0004298	Abnormality of the abdominal wall	10765	KDM5B	OMIM:618109
HP:0004298	Abnormality of the abdominal wall	6418	SET	OMIM:618106
HP:0004298	Abnormality of the abdominal wall	170689	ADAMTS15	OMIM:620545
HP:0004298	Abnormality of the abdominal wall	90459	ERI1	OMIM:620662
HP:0004298	Abnormality of the abdominal wall	2202	EFEMP1	OMIM:620780
HP:0004298	Abnormality of the abdominal wall	2972	BRF1	ORPHA:444072
HP:0004298	Abnormality of the abdominal wall	6601	SMARCC2	OMIM:618362
HP:0004298	Abnormality of the abdominal wall	84068	SLC10A7	OMIM:618363
HP:0004298	Abnormality of the abdominal wall	5831	PYCR1	OMIM:612940
HP:0004298	Abnormality of the abdominal wall	5831	PYCR1	OMIM:614438
HP:0004298	Abnormality of the abdominal wall	23476	BRD4	OMIM:620568
HP:0004298	Abnormality of the abdominal wall	11080	DNAJB4	OMIM:620326
HP:0004298	Abnormality of the abdominal wall	9719	ADAMTSL2	ORPHA:1901
HP:0004298	Abnormality of the abdominal wall	22827	PUF60	ORPHA:508488
HP:0004298	Abnormality of the abdominal wall	27031	NPHP3	OMIM:267010
HP:0004298	Abnormality of the abdominal wall	11342	RNF13	OMIM:618379
HP:0004298	Abnormality of the abdominal wall	11342	RNF13	ORPHA:544503
HP:0004298	Abnormality of the abdominal wall	7317	UBA1	OMIM:301830
HP:0004298	Abnormality of the abdominal wall	91039	DPP9	OMIM:620331
HP:0004298	Abnormality of the abdominal wall	6874	TAF4	OMIM:620450
HP:0004298	Abnormality of the abdominal wall	9791	PTDSS1	OMIM:151050
HP:0004298	Abnormality of the abdominal wall	9791	PTDSS1	ORPHA:2658
HP:0004298	Abnormality of the abdominal wall	1278	COL1A2	OMIM:225320
HP:0004298	Abnormality of the abdominal wall	1278	COL1A2	ORPHA:230851
HP:0004298	Abnormality of the abdominal wall	1278	COL1A2	ORPHA:1899
HP:0004298	Abnormality of the abdominal wall	6935	ZEB1	OMIM:609141
HP:0004298	Abnormality of the abdominal wall	10283	CWC27	ORPHA:166035
HP:0004298	Abnormality of the abdominal wall	8720	MBTPS1	OMIM:618392
HP:0004298	Abnormality of the abdominal wall	23112	TNRC6B	OMIM:619243
HP:0004298	Abnormality of the abdominal wall	10220	GDF11	OMIM:619122
HP:0004298	Abnormality of the abdominal wall	8450	CUL4B	ORPHA:85293
HP:0004298	Abnormality of the abdominal wall	2799	GNS	OMIM:252940
HP:0004298	Abnormality of the abdominal wall	5295	PIK3R1	ORPHA:3163
HP:0004298	Abnormality of the abdominal wall	5295	PIK3R1	OMIM:269880
HP:0004298	Abnormality of the abdominal wall	875	CBS	OMIM:236200
HP:0004298	Abnormality of the abdominal wall	9897	WASHC5	ORPHA:7
HP:0004298	Abnormality of the abdominal wall	28952	CCDC22	ORPHA:7
HP:0004298	Abnormality of the abdominal wall	57020	VPS35L	ORPHA:7
HP:0004298	Abnormality of the abdominal wall	56896	DPYSL5	ORPHA:7
HP:0004298	Abnormality of the abdominal wall	9652	SKIC3	ORPHA:84064
HP:0004298	Abnormality of the abdominal wall	6499	SKIC2	ORPHA:84064
HP:0004298	Abnormality of the abdominal wall	5518	PPP2R1A	ORPHA:457284
HP:0004298	Abnormality of the abdominal wall	3229	HOXC13	OMIM:614931
HP:0004298	Abnormality of the abdominal wall	29969	MDFIC	OMIM:620014
HP:0004298	Abnormality of the abdominal wall	7042	TGFB2	OMIM:614816
HP:0004298	Abnormality of the abdominal wall	7042	TGFB2	ORPHA:91387
HP:0004298	Abnormality of the abdominal wall	871	SERPINH1	OMIM:613848
HP:0004298	Abnormality of the abdominal wall	8085	KMT2D	OMIM:147920
HP:0004298	Abnormality of the abdominal wall	7403	KDM6A	OMIM:147920
HP:0004298	Abnormality of the abdominal wall	168667	BMPER	OMIM:608022
HP:0004298	Abnormality of the abdominal wall	4702	NDUFA8	OMIM:619272
HP:0004298	Abnormality of the abdominal wall	10128	LRPPRC	OMIM:220111
HP:0004298	Abnormality of the abdominal wall	2904	GRIN2B	OMIM:613970
HP:0004298	Abnormality of the abdominal wall	57539	WDR35	OMIM:613610
HP:0004298	Abnormality of the abdominal wall	123263	MTFMT	OMIM:614947
HP:0004298	Abnormality of the abdominal wall	4774	NFIA	OMIM:613735
HP:0004298	Abnormality of the abdominal wall	5352	PLOD2	OMIM:609220
HP:0004298	Abnormality of the abdominal wall	10093	ARPC4	OMIM:620141
HP:0004298	Abnormality of the abdominal wall	8443	GNPAT	OMIM:222765
HP:0004298	Abnormality of the abdominal wall	613	BCR	ORPHA:261330
HP:0004298	Abnormality of the abdominal wall	1399	CRKL	ORPHA:261330
HP:0004298	Abnormality of the abdominal wall	5594	MAPK1	ORPHA:261330
HP:0004298	Abnormality of the abdominal wall	25782	RAB3GAP2	OMIM:212720
HP:0004298	Abnormality of the abdominal wall	6197	RPS6KA3	OMIM:303600
HP:0004298	Abnormality of the abdominal wall	6197	RPS6KA3	ORPHA:192
HP:0004298	Abnormality of the abdominal wall	92579	G6PC3	OMIM:612541
HP:0004298	Abnormality of the abdominal wall	8289	ARID1A	OMIM:614607
HP:0004298	Abnormality of the abdominal wall	23314	SATB2	OMIM:612313
HP:0004298	Abnormality of the abdominal wall	25942	SIN3A	OMIM:613406
HP:0004298	Abnormality of the abdominal wall	5826	ABCD4	OMIM:614857
HP:0004298	Abnormality of the abdominal wall	699	BUB1	OMIM:620183
HP:0004298	Abnormality of the abdominal wall	197257	LDHD	OMIM:245450
HP:0004298	Abnormality of the abdominal wall	10056	FARSB	OMIM:613658
HP:0004298	Abnormality of the abdominal wall	54499	TMCO1	OMIM:213980
HP:0004298	Abnormality of the abdominal wall	84992	PIGY	OMIM:616809
HP:0004298	Abnormality of the abdominal wall	10907	TXNL4A	OMIM:608572
HP:0004298	Abnormality of the abdominal wall	4094	MAF	ORPHA:1272
HP:0004298	Abnormality of the abdominal wall	8481	OFD1	OMIM:300209
HP:0004298	Abnormality of the abdominal wall	5324	PLAG1	ORPHA:397590
HP:0004298	Abnormality of the abdominal wall	8091	HMGA2	ORPHA:397590
HP:0004298	Abnormality of the abdominal wall	63895	PIEZO2	ORPHA:1154
HP:0004298	Abnormality of the abdominal wall	63895	PIEZO2	OMIM:248700
HP:0004298	Abnormality of the abdominal wall	4089	SMAD4	ORPHA:2588
HP:0004298	Abnormality of the abdominal wall	4089	SMAD4	ORPHA:91387
HP:0004298	Abnormality of the abdominal wall	4953	ODC1	ORPHA:544488
HP:0004298	Abnormality of the abdominal wall	998	CDC42	OMIM:616737
HP:0004298	Abnormality of the abdominal wall	998	CDC42	ORPHA:487796
HP:0004298	Abnormality of the abdominal wall	2657	GDF1	OMIM:208530
HP:0004298	Abnormality of the abdominal wall	10265	IRX5	OMIM:611174
HP:0004298	Abnormality of the abdominal wall	55764	IFT122	OMIM:218330
HP:0004298	Abnormality of the abdominal wall	367	AR	OMIM:300068
HP:0004298	Abnormality of the abdominal wall	8884	SLC5A6	OMIM:619903
HP:0004298	Abnormality of the abdominal wall	2626	GATA4	OMIM:615542
HP:0004298	Abnormality of the abdominal wall	56623	INPP5E	ORPHA:1454
HP:0004298	Abnormality of the abdominal wall	91147	TMEM67	ORPHA:1454
HP:0004298	Abnormality of the abdominal wall	23322	RPGRIP1L	ORPHA:1454
HP:0004298	Abnormality of the abdominal wall	57545	CC2D2A	ORPHA:1454
HP:0004298	Abnormality of the abdominal wall	79633	FAT4	OMIM:615546
HP:0004298	Abnormality of the abdominal wall	6785	ELOVL4	OMIM:614457
HP:0004298	Abnormality of the abdominal wall	2313	FLI1	ORPHA:2308
HP:0004298	Abnormality of the abdominal wall	10664	CTCF	ORPHA:363611
HP:0004298	Abnormality of the abdominal wall	2588	GALNS	OMIM:253000
HP:0004298	Abnormality of the abdominal wall	8905	AP1S2	ORPHA:1568
HP:0004298	Abnormality of the abdominal wall	55617	TASP1	OMIM:618950
HP:0004298	Abnormality of the abdominal wall	523	ATP6V1A	ORPHA:357074
HP:0004298	Abnormality of the abdominal wall	523	ATP6V1A	OMIM:617403
HP:0004298	Abnormality of the abdominal wall	529	ATP6V1E1	ORPHA:357074
HP:0004298	Abnormality of the abdominal wall	7518	XRCC4	OMIM:616541
HP:0004298	Abnormality of the abdominal wall	10020	GNE	OMIM:269921
HP:0004298	Abnormality of the abdominal wall	1748	DLX4	OMIM:616788
HP:0004298	Abnormality of the abdominal wall	5430	POLR2A	OMIM:618603
HP:0004298	Abnormality of the abdominal wall	7043	TGFB3	OMIM:615582
HP:0004298	Abnormality of the abdominal wall	7043	TGFB3	ORPHA:91387
HP:0004298	Abnormality of the abdominal wall	57728	WDR19	OMIM:614376
HP:0004298	Abnormality of the abdominal wall	221927	BRAT1	OMIM:614498
HP:0004298	Abnormality of the abdominal wall	4015	LOX	ORPHA:91387
HP:0004298	Abnormality of the abdominal wall	59	ACTA2	ORPHA:91387
HP:0004298	Abnormality of the abdominal wall	5592	PRKG1	ORPHA:91387
HP:0004298	Abnormality of the abdominal wall	2301	FOXE3	ORPHA:91387
HP:0004298	Abnormality of the abdominal wall	4144	MAT2A	ORPHA:91387
HP:0004298	Abnormality of the abdominal wall	23493	HEY2	ORPHA:91387
HP:0004298	Abnormality of the abdominal wall	8076	MFAP5	ORPHA:91387
HP:0004298	Abnormality of the abdominal wall	79875	THSD4	ORPHA:91387
HP:0004298	Abnormality of the abdominal wall	23394	ADNP	ORPHA:404448
HP:0004298	Abnormality of the abdominal wall	26235	FBXL4	OMIM:615471
HP:0004298	Abnormality of the abdominal wall	341640	FREM2	ORPHA:2052
HP:0004298	Abnormality of the abdominal wall	23426	GRIP1	ORPHA:2052
HP:0004298	Abnormality of the abdominal wall	55503	TRPV6	OMIM:618188
HP:0004298	Abnormality of the abdominal wall	8425	LTBP4	OMIM:613177
HP:0004298	Abnormality of the abdominal wall	145173	B3GLCT	ORPHA:709
HP:0004298	Abnormality of the abdominal wall	145173	B3GLCT	OMIM:261540
HP:0004298	Abnormality of the abdominal wall	1788	DNMT3A	ORPHA:404443
HP:0004298	Abnormality of the abdominal wall	1788	DNMT3A	OMIM:615879
HP:0004298	Abnormality of the abdominal wall	4758	NEU1	ORPHA:93399
HP:0004298	Abnormality of the abdominal wall	4758	NEU1	ORPHA:93400
HP:0004298	Abnormality of the abdominal wall	64324	NSD1	ORPHA:821
HP:0004298	Abnormality of the abdominal wall	10297	APC2	ORPHA:821
HP:0004298	Abnormality of the abdominal wall	4487	MSX1	ORPHA:199302
HP:0004298	Abnormality of the abdominal wall	5818	NECTIN1	ORPHA:199302
HP:0004298	Abnormality of the abdominal wall	8626	TP63	ORPHA:199302
HP:0004298	Abnormality of the abdominal wall	8626	TP63	ORPHA:93930
HP:0004298	Abnormality of the abdominal wall	3664	IRF6	ORPHA:199302
HP:0004298	Abnormality of the abdominal wall	4125	MAN2B1	ORPHA:309282
HP:0004298	Abnormality of the abdominal wall	7849	PAX8	OMIM:218700
HP:0004298	Abnormality of the abdominal wall	7849	PAX8	ORPHA:95713
HP:0004298	Abnormality of the abdominal wall	7849	PAX8	ORPHA:95712
HP:0004298	Abnormality of the abdominal wall	4281	MID1	OMIM:300000
HP:0004298	Abnormality of the abdominal wall	4281	MID1	ORPHA:2745
HP:0004298	Abnormality of the abdominal wall	3481	IGF2	ORPHA:231144
HP:0004298	Abnormality of the abdominal wall	283120	H19	ORPHA:231144
HP:0004298	Abnormality of the abdominal wall	374654	KIF7	OMIM:200990
HP:0004298	Abnormality of the abdominal wall	2737	GLI3	ORPHA:380
HP:0004298	Abnormality of the abdominal wall	2737	GLI3	ORPHA:672
HP:0004298	Abnormality of the abdominal wall	2737	GLI3	OMIM:175700
HP:0004298	Abnormality of the abdominal wall	1855	DVL1	OMIM:616331
HP:0004298	Abnormality of the abdominal wall	1855	DVL1	ORPHA:3107
HP:0004298	Abnormality of the abdominal wall	1855	DVL1	OMIM:180700
HP:0004298	Abnormality of the abdominal wall	64412	GZF1	OMIM:617662
HP:0004298	Abnormality of the abdominal wall	283489	CHAMP1	OMIM:616579
HP:0004298	Abnormality of the abdominal wall	72	ACTG2	ORPHA:2604
HP:0004298	Abnormality of the abdominal wall	72	ACTG2	ORPHA:2241
HP:0004298	Abnormality of the abdominal wall	23384	SPECC1L	ORPHA:1519
HP:0004298	Abnormality of the abdominal wall	3764	KCNJ8	ORPHA:1517
HP:0004298	Abnormality of the abdominal wall	10060	ABCC9	ORPHA:1517
HP:0004298	Abnormality of the abdominal wall	10060	ABCC9	OMIM:239850
HP:0004298	Abnormality of the abdominal wall	79158	GNPTAB	OMIM:252500
HP:0004298	Abnormality of the abdominal wall	79158	GNPTAB	ORPHA:423461
HP:0004298	Abnormality of the abdominal wall	79158	GNPTAB	ORPHA:576
HP:0004298	Abnormality of the abdominal wall	55636	CHD7	ORPHA:138
HP:0004298	Abnormality of the abdominal wall	55636	CHD7	OMIM:214800
HP:0004298	Abnormality of the abdominal wall	9723	SEMA3E	ORPHA:138
HP:0004298	Abnormality of the abdominal wall	1353	COX11	OMIM:620275
HP:0004298	Abnormality of the abdominal wall	7253	TSHR	ORPHA:90673
HP:0004298	Abnormality of the abdominal wall	7253	TSHR	ORPHA:95713
HP:0004298	Abnormality of the abdominal wall	7252	TSHB	ORPHA:90674
HP:0004298	Abnormality of the abdominal wall	7252	TSHB	OMIM:275100
HP:0004298	Abnormality of the abdominal wall	29957	SLC25A24	ORPHA:2963
HP:0004298	Abnormality of the abdominal wall	29957	SLC25A24	ORPHA:2095
HP:0004298	Abnormality of the abdominal wall	29957	SLC25A24	OMIM:612289
HP:0004298	Abnormality of the abdominal wall	1146	CHRNG	OMIM:265000
HP:0004298	Abnormality of the abdominal wall	1146	CHRNG	ORPHA:2990
HP:0004298	Abnormality of the abdominal wall	57492	ARID1B	OMIM:135900
HP:0004298	Abnormality of the abdominal wall	54453	RIN2	OMIM:613075
HP:0004298	Abnormality of the abdominal wall	54453	RIN2	ORPHA:217335
HP:0004298	Abnormality of the abdominal wall	50814	NSDHL	OMIM:308050
HP:0004298	Abnormality of the abdominal wall	23545	ATP6V0A2	ORPHA:2834
HP:0004298	Abnormality of the abdominal wall	23545	ATP6V0A2	OMIM:278250
HP:0004298	Abnormality of the abdominal wall	4853	NOTCH2	OMIM:102500
HP:0004298	Abnormality of the abdominal wall	4853	NOTCH2	ORPHA:955
HP:0004298	Abnormality of the abdominal wall	3423	IDS	ORPHA:217085
HP:0004298	Abnormality of the abdominal wall	3423	IDS	OMIM:309900
HP:0004298	Abnormality of the abdominal wall	3423	IDS	ORPHA:217093
HP:0004298	Abnormality of the abdominal wall	9968	MED12	ORPHA:93932
HP:0004298	Abnormality of the abdominal wall	9968	MED12	OMIM:305450
HP:0004298	Abnormality of the abdominal wall	9968	MED12	OMIM:301068
HP:0004298	Abnormality of the abdominal wall	64359	NXN	ORPHA:1507
HP:0004298	Abnormality of the abdominal wall	4920	ROR2	ORPHA:1507
HP:0004298	Abnormality of the abdominal wall	4920	ROR2	OMIM:268310
HP:0004298	Abnormality of the abdominal wall	672	BRCA1	ORPHA:84
HP:0004298	Abnormality of the abdominal wall	10459	MAD2L2	ORPHA:84
HP:0004298	Abnormality of the abdominal wall	7516	XRCC2	ORPHA:84
HP:0004298	Abnormality of the abdominal wall	29089	UBE2T	ORPHA:84
HP:0004298	Abnormality of the abdominal wall	675	BRCA2	ORPHA:84
HP:0004298	Abnormality of the abdominal wall	55120	FANCL	ORPHA:84
HP:0004298	Abnormality of the abdominal wall	2177	FANCD2	ORPHA:84
HP:0004298	Abnormality of the abdominal wall	2175	FANCA	ORPHA:84
HP:0004298	Abnormality of the abdominal wall	2187	FANCB	ORPHA:84
HP:0004298	Abnormality of the abdominal wall	2176	FANCC	ORPHA:84
HP:0004298	Abnormality of the abdominal wall	2178	FANCE	ORPHA:84
HP:0004298	Abnormality of the abdominal wall	2188	FANCF	ORPHA:84
HP:0004298	Abnormality of the abdominal wall	2189	FANCG	ORPHA:84
HP:0004298	Abnormality of the abdominal wall	5888	RAD51	ORPHA:84
HP:0004298	Abnormality of the abdominal wall	5889	RAD51C	ORPHA:84
HP:0004298	Abnormality of the abdominal wall	55159	RFWD3	ORPHA:84
HP:0004298	Abnormality of the abdominal wall	83990	BRIP1	ORPHA:84
HP:0004298	Abnormality of the abdominal wall	57697	FANCM	ORPHA:84
HP:0004298	Abnormality of the abdominal wall	79728	PALB2	ORPHA:84
HP:0004298	Abnormality of the abdominal wall	84464	SLX4	ORPHA:84
HP:0004298	Abnormality of the abdominal wall	2072	ERCC4	ORPHA:84
HP:0004298	Abnormality of the abdominal wall	55215	FANCI	ORPHA:84
HP:0004298	Abnormality of the abdominal wall	3670	ISL1	ORPHA:93930
HP:0004298	Abnormality of the abdominal wall	6598	SMARCB1	OMIM:614608
HP:0004298	Abnormality of the abdominal wall	2697	GJA1	ORPHA:2710
HP:0004298	Abnormality of the abdominal wall	10555	AGPAT2	OMIM:608594
HP:0004298	Abnormality of the abdominal wall	1277	COL1A1	ORPHA:287
HP:0004298	Abnormality of the abdominal wall	1289	COL5A1	ORPHA:287
HP:0004298	Abnormality of the abdominal wall	1289	COL5A1	OMIM:130000
HP:0004298	Abnormality of the abdominal wall	1290	COL5A2	ORPHA:287
HP:0004298	Abnormality of the abdominal wall	6899	TBX1	OMIM:188400
HP:0004298	Abnormality of the abdominal wall	6899	TBX1	OMIM:192430
HP:0004298	Abnormality of the abdominal wall	6899	TBX1	ORPHA:567
HP:0004298	Abnormality of the abdominal wall	1281	COL3A1	ORPHA:286
HP:0004298	Abnormality of the abdominal wall	8726	EED	OMIM:617561
HP:0004298	Abnormality of the abdominal wall	22872	SEC31A	OMIM:618651
HP:0004298	Abnormality of the abdominal wall	54968	TMEM70	OMIM:614052
HP:0004298	Abnormality of the abdominal wall	11107	PRDM5	OMIM:614170
HP:0004298	Abnormality of the abdominal wall	26053	AUTS2	ORPHA:352490
HP:0004298	Abnormality of the abdominal wall	26053	AUTS2	OMIM:615834
HP:0004298	Abnormality of the abdominal wall	79813	EHMT1	OMIM:610253
HP:0004298	Abnormality of the abdominal wall	79813	EHMT1	ORPHA:261652
HP:0004298	Abnormality of the abdominal wall	29128	UHRF1	ORPHA:2268
HP:0004298	Abnormality of the abdominal wall	3070	HELLS	ORPHA:2268
HP:0004298	Abnormality of the abdominal wall	1789	DNMT3B	ORPHA:2268
HP:0004298	Abnormality of the abdominal wall	83879	CDCA7	ORPHA:2268
HP:0004298	Abnormality of the abdominal wall	9841	ZBTB24	ORPHA:2268
HP:0004298	Abnormality of the abdominal wall	1009	CDH11	ORPHA:1299
HP:0004298	Abnormality of the abdominal wall	1954	MEGF8	OMIM:614976
HP:0004298	Abnormality of the abdominal wall	1954	MEGF8	ORPHA:65759
HP:0004298	Abnormality of the abdominal wall	649	BMP1	OMIM:614856
HP:0004298	Abnormality of the abdominal wall	4036	LRP2	ORPHA:2143
HP:0004298	Abnormality of the abdominal wall	4036	LRP2	OMIM:222448
HP:0004298	Abnormality of the abdominal wall	3425	IDUA	OMIM:607014
HP:0004298	Abnormality of the abdominal wall	3425	IDUA	OMIM:607015
HP:0004298	Abnormality of the abdominal wall	175	AGA	ORPHA:93
HP:0004298	Abnormality of the abdominal wall	26834	RNU4-2	OMIM:620851
HP:0004298	Abnormality of the abdominal wall	165	AEBP1	ORPHA:536532
HP:0004298	Abnormality of the abdominal wall	165	AEBP1	OMIM:618000
HP:0004298	Abnormality of the abdominal wall	1947	EFNB1	OMIM:304110
HP:0004298	Abnormality of the abdominal wall	1836	SLC26A2	OMIM:600972
HP:0004298	Abnormality of the abdominal wall	1836	SLC26A2	ORPHA:93298
HP:0004298	Abnormality of the abdominal wall	4952	OCRL	OMIM:300555
HP:0004298	Abnormality of the abdominal wall	4952	OCRL	ORPHA:534
HP:0004298	Abnormality of the abdominal wall	23512	SUZ12	OMIM:618786
HP:0004298	Abnormality of the abdominal wall	23126	POGZ	OMIM:616364
HP:0004298	Abnormality of the abdominal wall	54914	FOCAD	OMIM:619991
HP:0004298	Abnormality of the abdominal wall	5626	PROP1	ORPHA:226307
HP:0004298	Abnormality of the abdominal wall	89884	LHX4	ORPHA:226307
HP:0004298	Abnormality of the abdominal wall	8022	LHX3	ORPHA:226307
HP:0004298	Abnormality of the abdominal wall	5449	POU1F1	ORPHA:226307
HP:0004298	Abnormality of the abdominal wall	8820	HESX1	ORPHA:226307
HP:0004298	Abnormality of the abdominal wall	1857	DVL3	ORPHA:3107
HP:0004298	Abnormality of the abdominal wall	7474	WNT5A	ORPHA:3107
HP:0004298	Abnormality of the abdominal wall	7474	WNT5A	OMIM:180700
HP:0004298	Abnormality of the abdominal wall	2535	FZD2	ORPHA:3107
HP:0004298	Abnormality of the abdominal wall	9681	DEPDC5	OMIM:620504
HP:0004298	Abnormality of the abdominal wall	2627	GATA6	ORPHA:2255
HP:0004298	Abnormality of the abdominal wall	2627	GATA6	OMIM:600001
HP:0004298	Abnormality of the abdominal wall	6804	STX1A	ORPHA:904
HP:0004298	Abnormality of the abdominal wall	7461	CLIP2	ORPHA:904
HP:0004298	Abnormality of the abdominal wall	84277	DNAJC30	ORPHA:904
HP:0004298	Abnormality of the abdominal wall	8468	FKBP6	ORPHA:904
HP:0004298	Abnormality of the abdominal wall	5982	RFC2	ORPHA:904
HP:0004298	Abnormality of the abdominal wall	2969	GTF2I	ORPHA:904
HP:0004298	Abnormality of the abdominal wall	3984	LIMK1	ORPHA:904
HP:0004298	Abnormality of the abdominal wall	9569	GTF2IRD1	ORPHA:904
HP:0004298	Abnormality of the abdominal wall	155382	VPS37D	ORPHA:904
HP:0004298	Abnormality of the abdominal wall	155368	METTL27	ORPHA:904
HP:0004298	Abnormality of the abdominal wall	114049	BUD23	ORPHA:904
HP:0004298	Abnormality of the abdominal wall	7458	EIF4H	ORPHA:904
HP:0004298	Abnormality of the abdominal wall	84163	GTF2IRD2	ORPHA:904
HP:0004298	Abnormality of the abdominal wall	26608	TBL2	ORPHA:904
HP:0004298	Abnormality of the abdominal wall	653361	NCF1	ORPHA:904
HP:0004298	Abnormality of the abdominal wall	135886	TMEM270	ORPHA:904
HP:0004298	Abnormality of the abdominal wall	9031	BAZ1B	ORPHA:904
HP:0004298	Abnormality of the abdominal wall	2006	ELN	ORPHA:904
HP:0004298	Abnormality of the abdominal wall	2006	ELN	OMIM:194050
HP:0004298	Abnormality of the abdominal wall	79753	SNIP1	OMIM:614501
HP:0004298	Abnormality of the abdominal wall	5593	PRKG2	OMIM:619636
HP:0004298	Abnormality of the abdominal wall	8364	H4C3	OMIM:619758
HP:0004298	Abnormality of the abdominal wall	8517	IKBKG	ORPHA:464
HP:0004298	Abnormality of the abdominal wall	2990	GUSB	ORPHA:584
HP:0004298	Abnormality of the abdominal wall	2990	GUSB	OMIM:253220
HP:0004298	Abnormality of the abdominal wall	2200	FBN1	OMIM:608328
HP:0004298	Abnormality of the abdominal wall	2200	FBN1	ORPHA:2462
HP:0004298	Abnormality of the abdominal wall	715	C1R	OMIM:130080
HP:0004298	Abnormality of the abdominal wall	58508	KMT2C	ORPHA:261652
HP:0004298	Abnormality of the abdominal wall	50506	DUOX2	ORPHA:226316
HP:0004298	Abnormality of the abdominal wall	50506	DUOX2	ORPHA:95716
HP:0004298	Abnormality of the abdominal wall	54487	DGCR8	OMIM:192430
HP:0004298	Abnormality of the abdominal wall	8214	DGCR6	OMIM:192430
HP:0004298	Abnormality of the abdominal wall	8220	ESS2	OMIM:192430
HP:0004298	Abnormality of the abdominal wall	9993	DGCR2	OMIM:192430
HP:0004298	Abnormality of the abdominal wall	25802	LMOD1	ORPHA:2241
HP:0004298	Abnormality of the abdominal wall	4638	MYLK	ORPHA:2241
HP:0004298	Abnormality of the abdominal wall	51341	ZBTB7A	OMIM:619769
HP:0004298	Abnormality of the abdominal wall	5832	ALDH18A1	OMIM:219150
HP:0004298	Abnormality of the abdominal wall	2316	FLNA	OMIM:304120
HP:0004298	Abnormality of the abdominal wall	2316	FLNA	ORPHA:75497
HP:0004298	Abnormality of the abdominal wall	51085	MLXIPL	OMIM:194050
HP:0004298	Abnormality of the abdominal wall	55343	SLC35C1	ORPHA:99843
HP:0004298	Abnormality of the abdominal wall	7030	TFE3	OMIM:301066
HP:0004298	Abnormality of the abdominal wall	2239	GPC4	ORPHA:373
HP:0004298	Abnormality of the abdominal wall	2239	GPC4	OMIM:312870
HP:0004298	Abnormality of the abdominal wall	2719	GPC3	ORPHA:373
HP:0004298	Abnormality of the abdominal wall	2719	GPC3	OMIM:312870
HP:0004298	Abnormality of the abdominal wall	81031	SLC2A10	OMIM:208050
HP:0004298	Abnormality of the abdominal wall	284098	PIGW	OMIM:616025
HP:0004298	Abnormality of the abdominal wall	259232	NALCN	OMIM:616266
HP:0004298	Abnormality of the abdominal wall	23483	TGDS	OMIM:616145
HP:0004298	Abnormality of the abdominal wall	285203	EOGT	OMIM:615297
HP:0004298	Abnormality of the abdominal wall	57479	PRR12	OMIM:619539
HP:0004298	Abnormality of the abdominal wall	4851	NOTCH1	OMIM:616028
HP:0004298	Abnormality of the abdominal wall	84168	ANTXR1	OMIM:230740
HP:0004298	Abnormality of the abdominal wall	84168	ANTXR1	ORPHA:2067
HP:0004298	Abnormality of the abdominal wall	64919	BCL11B	OMIM:617237
HP:0004298	Abnormality of the abdominal wall	4088	SMAD3	OMIM:613795
HP:0004298	Abnormality of the abdominal wall	4088	SMAD3	ORPHA:284984
HP:0004298	Abnormality of the abdominal wall	4087	SMAD2	OMIM:619656
HP:0004298	Abnormality of the abdominal wall	3930	LBR	OMIM:169400
HP:0004298	Abnormality of the abdominal wall	2146	EZH2	OMIM:277590
HP:0004298	Abnormality of the abdominal wall	7048	TGFBR2	OMIM:610168
HP:0004298	Abnormality of the abdominal wall	1107	CHD3	OMIM:618205
HP:0004298	Abnormality of the abdominal wall	9321	TRIP11	ORPHA:93299
HP:0004298	Abnormality of the abdominal wall	404672	GTF2H5	ORPHA:33364
HP:0004298	Abnormality of the abdominal wall	833	CARS1	ORPHA:33364
HP:0004298	Abnormality of the abdominal wall	2068	ERCC2	ORPHA:33364
HP:0004298	Abnormality of the abdominal wall	7737	RNF113A	ORPHA:33364
HP:0004298	Abnormality of the abdominal wall	136647	MPLKIP	ORPHA:33364
HP:0004298	Abnormality of the abdominal wall	6897	TARS1	ORPHA:33364
HP:0004298	Abnormality of the abdominal wall	16	AARS1	ORPHA:33364
HP:0004298	Abnormality of the abdominal wall	2071	ERCC3	ORPHA:33364
HP:0004298	Abnormality of the abdominal wall	2961	GTF2E2	ORPHA:33364
HP:0004298	Abnormality of the abdominal wall	3339	HSPG2	OMIM:255800
HP:0004298	Abnormality of the abdominal wall	3339	HSPG2	ORPHA:800
HP:0004298	Abnormality of the abdominal wall	147372	CCBE1	OMIM:235510
HP:0004298	Abnormality of the abdominal wall	6528	SLC5A5	OMIM:274400
HP:0004298	Abnormality of the abdominal wall	6528	SLC5A5	ORPHA:95716
HP:0004298	Abnormality of the abdominal wall	117581	TWIST2	ORPHA:920
HP:0004298	Abnormality of the abdominal wall	6595	SMARCA2	OMIM:601358
HP:0004298	Abnormality of the abdominal wall	1387	CREBBP	OMIM:618332
HP:0004298	Abnormality of the abdominal wall	1387	CREBBP	ORPHA:592574
HP:0004298	Abnormality of the abdominal wall	8295	TRRAP	OMIM:618454
HP:0004298	Abnormality of the abdominal wall	9742	IFT140	OMIM:266920
HP:0004298	Abnormality of the abdominal wall	55690	PACS1	ORPHA:329224
HP:0004298	Abnormality of the abdominal wall	51053	GMNN	OMIM:616835
HP:0004298	Abnormality of the abdominal wall	2245	FGD1	ORPHA:915
HP:0004298	Abnormality of the abdominal wall	2245	FGD1	OMIM:305400
HP:0004298	Abnormality of the abdominal wall	6497	SKI	ORPHA:2462
HP:0004298	Abnormality of the abdominal wall	6497	SKI	OMIM:182212
HP:0004298	Abnormality of the abdominal wall	5908	RAP1B	OMIM:620654
HP:0004298	Abnormality of the abdominal wall	90417	KNSTRN	OMIM:613328
HP:0004298	Abnormality of the abdominal wall	90417	KNSTRN	ORPHA:221139
HP:0004298	Abnormality of the abdominal wall	5293	PIK3CD	OMIM:613328
HP:0004298	Abnormality of the abdominal wall	5293	PIK3CD	ORPHA:221139
HP:0004298	Abnormality of the abdominal wall	6792	CDKL5	ORPHA:1934
HP:0004298	Abnormality of the abdominal wall	3736	KCNA1	ORPHA:1934
HP:0004298	Abnormality of the abdominal wall	9091	PIGQ	ORPHA:1934
HP:0004298	Abnormality of the abdominal wall	140679	SLC32A1	ORPHA:1934
HP:0004298	Abnormality of the abdominal wall	2775	GNAO1	ORPHA:1934
HP:0004298	Abnormality of the abdominal wall	81603	TRIM8	ORPHA:1934
HP:0004298	Abnormality of the abdominal wall	2902	GRIN1	ORPHA:1934
HP:0004298	Abnormality of the abdominal wall	79751	SLC25A22	ORPHA:1934
HP:0004298	Abnormality of the abdominal wall	150094	SIK1	ORPHA:1934
HP:0004298	Abnormality of the abdominal wall	8573	CASK	ORPHA:1934
HP:0004298	Abnormality of the abdominal wall	23312	DMXL2	ORPHA:1934
HP:0004298	Abnormality of the abdominal wall	2917	GRM7	ORPHA:1934
HP:0004298	Abnormality of the abdominal wall	170302	ARX	ORPHA:1934
HP:0004298	Abnormality of the abdominal wall	11284	PNKP	ORPHA:1934
HP:0004298	Abnormality of the abdominal wall	6326	SCN2A	ORPHA:1934
HP:0004298	Abnormality of the abdominal wall	51227	PIGP	ORPHA:1934
HP:0004298	Abnormality of the abdominal wall	6324	SCN1B	ORPHA:1934
HP:0004298	Abnormality of the abdominal wall	4761	NEUROD2	ORPHA:1934
HP:0004298	Abnormality of the abdominal wall	9361	LONP1	OMIM:600373
HP:0004298	Abnormality of the abdominal wall	6448	SGSH	OMIM:252900
HP:0004298	Abnormality of the abdominal wall	388015	RTL1	ORPHA:254534
HP:0004298	Abnormality of the abdominal wall	388015	RTL1	ORPHA:254528
HP:0004298	Abnormality of the abdominal wall	8788	DLK1	ORPHA:254534
HP:0004298	Abnormality of the abdominal wall	8788	DLK1	ORPHA:254528
HP:0004298	Abnormality of the abdominal wall	55384	MEG3	ORPHA:254534
HP:0004298	Abnormality of the abdominal wall	55384	MEG3	ORPHA:254528
HP:0004298	Abnormality of the abdominal wall	9759	HDAC4	ORPHA:1001
HP:0004298	Abnormality of the abdominal wall	4076	CAPRIN1	OMIM:620782
HP:0004298	Abnormality of the abdominal wall	546	ATRX	OMIM:301040
HP:0004298	Abnormality of the abdominal wall	411	ARSB	OMIM:253200
HP:0004298	Abnormality of the abdominal wall	6299	SALL1	OMIM:107480
HP:0004298	Abnormality of the abdominal wall	10847	SRCAP	OMIM:136140
HP:0004298	Abnormality of the abdominal wall	5515	PPP2CA	OMIM:618354
HP:0004298	Abnormality of the abdominal wall	4854	NOTCH3	OMIM:130720
HP:0004298	Abnormality of the abdominal wall	4854	NOTCH3	ORPHA:2789
HP:0004298	Abnormality of the abdominal wall	23291	FBXW11	OMIM:618914
HP:0004298	Abnormality of the abdominal wall	169792	GLIS3	OMIM:610199
HP:0004298	Abnormality of the abdominal wall	3097	HIVEP2	OMIM:616977
HP:0004298	Abnormality of the abdominal wall	3767	KCNJ11	ORPHA:99886
HP:0004298	Abnormality of the abdominal wall	346171	ZFP57	ORPHA:99886
HP:0004298	Abnormality of the abdominal wall	6833	ABCC8	ORPHA:99886
HP:0004298	Abnormality of the abdominal wall	79068	FTO	OMIM:612938
HP:0004298	Abnormality of the abdominal wall	4784	NFIX	OMIM:602535
HP:0004298	Abnormality of the abdominal wall	3756	KCNH1	OMIM:135500
HP:0004298	Abnormality of the abdominal wall	8260	NAA10	OMIM:300855
HP:0004298	Abnormality of the abdominal wall	10082	GPC6	OMIM:258315
HP:0004298	Abnormality of the abdominal wall	405753	DUOXA2	ORPHA:95716
HP:0004298	Abnormality of the abdominal wall	7038	TG	ORPHA:95716
HP:0004298	Abnormality of the abdominal wall	7173	TPO	ORPHA:95716
HP:0004298	Abnormality of the abdominal wall	389434	IYD	ORPHA:95716
HP:0004298	Abnormality of the abdominal wall	55603	TENT5A	OMIM:617952
HP:0004298	Abnormality of the abdominal wall	7080	NKX2-1	ORPHA:95713
HP:0004298	Abnormality of the abdominal wall	1482	NKX2-5	ORPHA:95713
HP:0004298	Abnormality of the abdominal wall	1482	NKX2-5	ORPHA:95712
HP:0004298	Abnormality of the abdominal wall	2304	FOXE1	ORPHA:95713
HP:0004298	Abnormality of the abdominal wall	5172	SLC26A4	ORPHA:95713
HP:0004298	Abnormality of the abdominal wall	134701	RIPPLY2	ORPHA:2311
HP:0004298	Abnormality of the abdominal wall	10683	DLL3	ORPHA:2311
HP:0004298	Abnormality of the abdominal wall	3955	LFNG	ORPHA:2311
HP:0004298	Abnormality of the abdominal wall	84667	HES7	ORPHA:2311
HP:0004298	Abnormality of the abdominal wall	145873	MESP2	ORPHA:2311
HP:0004298	Abnormality of the abdominal wall	2019	EN1	OMIM:619218
HP:0004298	Abnormality of the abdominal wall	23389	MED13L	ORPHA:369891
HP:0004298	Abnormality of the abdominal wall	5351	PLOD1	ORPHA:1900
HP:0004298	Abnormality of the abdominal wall	1312	COMT	ORPHA:567
HP:0004298	Abnormality of the abdominal wall	221037	JMJD1C	ORPHA:567
HP:0004298	Abnormality of the abdominal wall	2812	GP1BB	ORPHA:567
HP:0004298	Abnormality of the abdominal wall	6239	RREB1	ORPHA:567
HP:0004298	Abnormality of the abdominal wall	7290	HIRA	ORPHA:567
HP:0004298	Abnormality of the abdominal wall	9632	SEC24C	ORPHA:567
HP:0004298	Abnormality of the abdominal wall	7353	UFD1	ORPHA:567
HP:0004298	Abnormality of the abdominal wall	421	ARVCF	ORPHA:567
HP:0004298	Abnormality of the abdominal wall	538	ATP7A	ORPHA:565
HP:0004298	Abnormality of the abdominal wall	6045	RNF2	OMIM:619460
HP:0004298	Abnormality of the abdominal wall	1280	COL2A1	OMIM:156550
HP:0004298	Abnormality of the abdominal wall	2743	GLRB	ORPHA:3197
HP:0004298	Abnormality of the abdominal wall	2741	GLRA1	ORPHA:3197
HP:0004298	Abnormality of the abdominal wall	2741	GLRA1	OMIM:149400
HP:0004298	Abnormality of the abdominal wall	10243	GPHN	ORPHA:3197
HP:0004298	Abnormality of the abdominal wall	10243	GPHN	OMIM:149400
HP:0004298	Abnormality of the abdominal wall	84896	ATAD1	ORPHA:3197
HP:0004298	Abnormality of the abdominal wall	84896	ATAD1	OMIM:618011
HP:0004298	Abnormality of the abdominal wall	9152	SLC6A5	ORPHA:3197
HP:0004298	Abnormality of the abdominal wall	9509	ADAMTS2	OMIM:225410
HP:0004298	Abnormality of the abdominal wall	633	BGN	OMIM:300989
HP:0004298	Abnormality of the abdominal wall	2475	MTOR	OMIM:616638
HP:0004298	Abnormality of the abdominal wall	51715	RAB23	ORPHA:65759
HP:0004298	Abnormality of the abdominal wall	51715	RAB23	OMIM:201000
HP:0004298	Abnormality of the abdominal wall	26227	PHGDH	ORPHA:79351
HP:0004298	Abnormality of the abdominal wall	26040	SETBP1	ORPHA:798
HP:0004298	Abnormality of the abdominal wall	64864	RFX7	OMIM:620330
HP:0004298	Abnormality of the abdominal wall	64840	PORCN	OMIM:305600
HP:0004298	Abnormality of the abdominal wall	64840	PORCN	ORPHA:2092
HP:0004298	Abnormality of the abdominal wall	84265	POLR3GL	OMIM:619234
HP:0004298	Abnormality of the abdominal wall	716	C1S	OMIM:617174
HP:0004298	Abnormality of the abdominal wall	10526	IPO8	OMIM:619472
HP:0004298	Abnormality of the abdominal wall	26580	BSCL2	OMIM:269700
HP:0004298	Abnormality of the abdominal wall	94005	PIGS	OMIM:618143
HP:0004298	Abnormality of the abdominal wall	1861	TOR1A	OMIM:618947
HP:0004298	Abnormality of the abdominal wall	285590	SH3PXD2B	ORPHA:137834
HP:0004298	Abnormality of the abdominal wall	23405	DICER1	OMIM:618272
HP:0004298	Abnormality of the abdominal wall	113189	CHST14	OMIM:601776
HP:0004298	Abnormality of the abdominal wall	51360	MBTPS2	OMIM:308205
HP:0004298	Abnormality of the abdominal wall	1457	CSNK2A1	OMIM:617062
HP:0004298	Abnormality of the abdominal wall	54880	BCOR	OMIM:300166
HP:0004298	Abnormality of the abdominal wall	100506658	OCLN	OMIM:251290
HP:0004298	Abnormality of the abdominal wall	23169	SLC35D1	OMIM:269250
HP:0004298	Abnormality of the abdominal wall	60	ACTB	OMIM:620475
HP:0004298	Abnormality of the abdominal wall	149461	CLDN19	ORPHA:2196
HP:0004298	Abnormality of the abdominal wall	5879	RAC1	OMIM:617751
HP:0004298	Abnormality of the abdominal wall	5879	RAC1	ORPHA:500159
HP:0004298	Abnormality of the abdominal wall	84231	TRAF7	OMIM:618164
HP:0004298	Abnormality of the abdominal wall	51780	KDM3B	OMIM:618846
HP:0004298	Abnormality of the abdominal wall	9487	PIGL	OMIM:280000
HP:0004298	Abnormality of the abdominal wall	10584	COLEC10	ORPHA:293843
HP:0004298	Abnormality of the abdominal wall	78989	COLEC11	ORPHA:293843
HP:0004298	Abnormality of the abdominal wall	63916	ELMO2	OMIM:606893
HP:0004298	Abnormality of the abdominal wall	5479	PPIB	OMIM:259440
HP:0004298	Abnormality of the abdominal wall	4621	MYH3	ORPHA:2990
HP:0004298	Abnormality of the abdominal wall	10516	FBLN5	OMIM:219100
HP:0004298	Abnormality of the abdominal wall	5727	PTCH1	ORPHA:77301
HP:0004298	Abnormality of the abdominal wall	55553	SOX6	OMIM:618971
HP:0004298	Abnormality of the abdominal wall	7543	ZFX	OMIM:301118
HP:0004298	Abnormality of the abdominal wall	203068	TUBB	ORPHA:2505
HP:0004298	Abnormality of the abdominal wall	10982	MAPRE2	ORPHA:2505
HP:0004298	Abnormality of the abdominal wall	28981	IFT81	OMIM:617895
HP:0004298	Abnormality of the abdominal wall	23556	PIGN	ORPHA:2059
HP:0004298	Abnormality of the abdominal wall	55112	DYNC2I1	ORPHA:93271
HP:0004298	Abnormality of the abdominal wall	57560	IFT80	ORPHA:93271
HP:0004298	Abnormality of the abdominal wall	79659	DYNC2H1	ORPHA:93271
HP:0004298	Abnormality of the abdominal wall	89891	DYNC2I2	ORPHA:93271
HP:0004298	Abnormality of the abdominal wall	91754	NEK9	OMIM:617022
HP:0004298	Abnormality of the abdominal wall	51259	TMEM216	OMIM:603194
HP:0004298	Abnormality of the abdominal wall	7547	ZIC3	OMIM:306955
HP:0004298	Abnormality of the abdominal wall	1147	CHUK	OMIM:613630
HP:0004298	Abnormality of the abdominal wall	158326	FREM1	ORPHA:3366
HP:0004298	Abnormality of the abdominal wall	158326	FREM1	OMIM:248450
HP:0004298	Abnormality of the abdominal wall	4313	MMP2	ORPHA:371428
HP:0004298	Abnormality of the abdominal wall	4323	MMP14	ORPHA:371428
HP:0004298	Abnormality of the abdominal wall	1301	COL11A1	OMIM:228520
HP:0004298	Abnormality of the abdominal wall	1301	COL11A1	ORPHA:2021
HP:0004298	Abnormality of the abdominal wall	79796	ALG9	OMIM:263210
HP:0004298	Abnormality of the abdominal wall	79796	ALG9	ORPHA:79328
HP:0004298	Abnormality of the abdominal wall	7067	THRA	OMIM:614450
HP:0004298	Abnormality of the abdominal wall	5332	PLCB4	OMIM:620458
HP:0004298	Abnormality of the abdominal wall	10046	MAMLD1	ORPHA:95706
HP:0004298	Abnormality of the abdominal wall	1302	COL11A2	ORPHA:2021
HP:0004298	Abnormality of the abdominal wall	4524	MTHFR	ORPHA:563609
HP:0004298	Abnormality of the abdominal wall	57216	VANGL2	ORPHA:563609
HP:0004298	Abnormality of the abdominal wall	81788	NUAK2	ORPHA:563609
HP:0004298	Abnormality of the abdominal wall	57217	TTC7A	OMIM:243150
HP:0004298	Abnormality of the abdominal wall	57217	TTC7A	ORPHA:436252
HP:0004298	Abnormality of the abdominal wall	4659	PPP1R12A	OMIM:618820
HP:0004298	Abnormality of the abdominal wall	2571	GAD1	OMIM:619124
HP:0004298	Abnormality of the abdominal wall	9772	TMEM94	OMIM:618316
HP:0004298	Abnormality of the abdominal wall	139285	AMER1	OMIM:300373
HP:0004298	Abnormality of the abdominal wall	3090	HIC1	ORPHA:531
HP:0004298	Abnormality of the abdominal wall	153241	CEP120	OMIM:616300
HP:0004298	Abnormality of the abdominal wall	727857	BHLHA9	ORPHA:3329
HP:0004298	Abnormality of the abdominal wall	5297	PI4KA	ORPHA:436252
HP:0004298	Abnormality of the abdominal wall	219844	HYLS1	OMIM:236680
HP:0004298	Abnormality of the abdominal wall	3239	HOXD13	ORPHA:887
HP:0004298	Abnormality of the abdominal wall	54903	MKS1	OMIM:249000
HP:0004298	Abnormality of the abdominal wall	51339	DACT1	ORPHA:63260
HP:0004298	Abnormality of the abdominal wall	2294	FOXF1	OMIM:265380
HP:0004298	Abnormality of the abdominal wall	1028	CDKN1C	OMIM:130650
HP:0004298	Abnormality of the abdominal wall	3784	KCNQ1	OMIM:130650
HP:0004298	Abnormality of the abdominal wall	10984	KCNQ1OT1	OMIM:130650
HP:0004298	Abnormality of the abdominal wall	55012	PPP2R3C	OMIM:618419
HP:0004298	Abnormality of the abdominal wall	93627	TBCK	ORPHA:488632
HP:0004298	Abnormality of the abdominal wall	23729	SHPK	ORPHA:440713
HP:0004298	Abnormality of the abdominal wall	10262	SF3B4	OMIM:154400
HP:0004298	Abnormality of the abdominal wall	1717	DHCR7	ORPHA:818
HP:0004298	Abnormality of the abdominal wall	7473	WNT3	OMIM:273395
HP:0004298	Abnormality of the abdominal wall	7994	KAT6A	OMIM:616268
HP:0004298	Abnormality of the abdominal wall	4000	LMNA	ORPHA:740
HP:0004298	Abnormality of the abdominal wall	10269	ZMPSTE24	ORPHA:740
HP:0004298	Abnormality of the abdominal wall	284119	CAVIN1	OMIM:613327
HP:0004298	Abnormality of the abdominal wall	80144	FRAS1	OMIM:219000
HP:0004298	Abnormality of the abdominal wall	3848	KRT1	ORPHA:530838
HP:0004298	Abnormality of the abdominal wall	51733	UPB1	OMIM:613161
HP:0004298	Abnormality of the abdominal wall	5053	PAH	ORPHA:2209
HP:0004298	Abnormality of the abdominal wall	5648	MASP1	OMIM:257920
HP:0004298	Abnormality of the abdominal wall	1499	CTNNB1	ORPHA:873
HP:0004298	Abnormality of the abdominal wall	324	APC	ORPHA:873
HP:0004298	Abnormality of the abdominal wall	9469	CHST3	OMIM:245600
HP:0004298	Abnormality of the abdominal wall	26229	B3GAT3	OMIM:245600
HP:0004298	Abnormality of the abdominal wall	8239	USP9X	ORPHA:480880
HP:0004298	Abnormality of the abdominal wall	412	STS	ORPHA:281090
HP:0004298	Abnormality of the abdominal wall	3117	HLA-DQA1	OMIM:212750
HP:0004298	Abnormality of the abdominal wall	3119	HLA-DQB1	OMIM:212750
HP:0004298	Abnormality of the abdominal wall	4204	MECP2	ORPHA:1762
HP:0004298	Abnormality of the abdominal wall	114548	NLRP3	ORPHA:575
HP:0004298	Abnormality of the abdominal wall	6926	TBX3	ORPHA:3138
HP:0004298	Abnormality of the abdominal wall	9780	PIEZO1	OMIM:616843
HP:0004298	Abnormality of the abdominal wall	91801	ALKBH8	OMIM:618504
HP:0004298	Abnormality of the abdominal wall	4629	MYH11	OMIM:619351
HP:0004298	Abnormality of the abdominal wall	1131	CHRM3	OMIM:100100
HP:0004298	Abnormality of the abdominal wall	4126	MANBA	ORPHA:118
HP:0004298	Abnormality of the abdominal wall	6023	RMRP	ORPHA:175
HP:0004298	Abnormality of the abdominal wall	2317	FLNB	ORPHA:1263
HP:0004298	Abnormality of the abdominal wall	22800	RRAS2	ORPHA:648
HP:0004298	Abnormality of the abdominal wall	867	CBL	ORPHA:648
HP:0004298	Abnormality of the abdominal wall	8216	LZTR1	ORPHA:648
HP:0004298	Abnormality of the abdominal wall	6016	RIT1	ORPHA:648
HP:0004298	Abnormality of the abdominal wall	6237	RRAS	ORPHA:648
HP:0004298	Abnormality of the abdominal wall	5894	RAF1	ORPHA:648
HP:0004298	Abnormality of the abdominal wall	5894	RAF1	ORPHA:500
HP:0004298	Abnormality of the abdominal wall	22808	MRAS	ORPHA:648
HP:0004298	Abnormality of the abdominal wall	3845	KRAS	ORPHA:648
HP:0004298	Abnormality of the abdominal wall	200734	SPRED2	ORPHA:648
HP:0004298	Abnormality of the abdominal wall	4893	NRAS	ORPHA:648
HP:0004298	Abnormality of the abdominal wall	6654	SOS1	ORPHA:648
HP:0004298	Abnormality of the abdominal wall	6655	SOS2	ORPHA:648
HP:0004298	Abnormality of the abdominal wall	5781	PTPN11	ORPHA:648
HP:0004298	Abnormality of the abdominal wall	5781	PTPN11	ORPHA:500
HP:0004298	Abnormality of the abdominal wall	5922	RASA2	ORPHA:648
HP:0004298	Abnormality of the abdominal wall	10225	CD96	ORPHA:1308
HP:0004298	Abnormality of the abdominal wall	57192	MCOLN1	ORPHA:578
HP:0004298	Abnormality of the abdominal wall	673	BRAF	ORPHA:500
HP:0004298	Abnormality of the abdominal wall	64131	XYLT1	ORPHA:1425
HP:0004298	Abnormality of the abdominal wall	124583	CANT1	ORPHA:1425
HP:0004298	Abnormality of the abdominal wall	55790	CSGALNACT1	ORPHA:1425
HP:0004298	Abnormality of the abdominal wall	57061	HYMAI	ORPHA:96191
HP:0004298	Abnormality of the abdominal wall	5325	PLAGL1	ORPHA:96191
HP:0004298	Abnormality of the abdominal wall	6862	TBXT	OMIM:615709
HP:0004298	Abnormality of the abdominal wall	54101	RIPK4	OMIM:263650
HP:0004298	Abnormality of the abdominal wall	2263	FGFR2	OMIM:123790
HP:0004298	Abnormality of the abdominal wall	55033	FKBP14	OMIM:614557
HP:0004298	Abnormality of the abdominal wall	157922	CAMSAP1	OMIM:620316
HP:0004299	Hernia of the abdominal wall	8036	SHOC2	OMIM:607721
HP:0004299	Hernia of the abdominal wall	23394	ADNP	ORPHA:404448
HP:0004299	Hernia of the abdominal wall	26235	FBXL4	OMIM:615471
HP:0004299	Hernia of the abdominal wall	8425	LTBP4	OMIM:613177
HP:0004299	Hernia of the abdominal wall	268	AMH	ORPHA:2856
HP:0004299	Hernia of the abdominal wall	268	AMH	OMIM:261550
HP:0004299	Hernia of the abdominal wall	269	AMHR2	ORPHA:2856
HP:0004299	Hernia of the abdominal wall	269	AMHR2	OMIM:261550
HP:0004299	Hernia of the abdominal wall	81857	MED25	OMIM:616449
HP:0004299	Hernia of the abdominal wall	81857	MED25	ORPHA:464738
HP:0004299	Hernia of the abdominal wall	64220	STRA6	OMIM:601186
HP:0004299	Hernia of the abdominal wall	65267	WNK3	OMIM:309610
HP:0004299	Hernia of the abdominal wall	1855	DVL1	OMIM:616331
HP:0004299	Hernia of the abdominal wall	1855	DVL1	OMIM:180700
HP:0004299	Hernia of the abdominal wall	1855	DVL1	ORPHA:3107
HP:0004299	Hernia of the abdominal wall	64412	GZF1	OMIM:617662
HP:0004299	Hernia of the abdominal wall	477	ATP1A2	OMIM:619602
HP:0004299	Hernia of the abdominal wall	129563	DIS3L2	ORPHA:2849
HP:0004299	Hernia of the abdominal wall	79158	GNPTAB	OMIM:252500
HP:0004299	Hernia of the abdominal wall	79158	GNPTAB	OMIM:252600
HP:0004299	Hernia of the abdominal wall	79158	GNPTAB	ORPHA:576
HP:0004299	Hernia of the abdominal wall	64175	P3H1	OMIM:610915
HP:0004299	Hernia of the abdominal wall	57589	RIC1	OMIM:618761
HP:0004299	Hernia of the abdominal wall	25885	POLR1A	OMIM:616462
HP:0004299	Hernia of the abdominal wall	113189	CHST14	ORPHA:2953
HP:0004299	Hernia of the abdominal wall	29940	DSE	ORPHA:2953
HP:0004299	Hernia of the abdominal wall	29940	DSE	OMIM:615539
HP:0004299	Hernia of the abdominal wall	23545	ATP6V0A2	ORPHA:2834
HP:0004299	Hernia of the abdominal wall	23545	ATP6V0A2	OMIM:278250
HP:0004299	Hernia of the abdominal wall	23545	ATP6V0A2	OMIM:219200
HP:0004299	Hernia of the abdominal wall	23545	ATP6V0A2	ORPHA:357074
HP:0004299	Hernia of the abdominal wall	4853	NOTCH2	OMIM:102500
HP:0004299	Hernia of the abdominal wall	4853	NOTCH2	ORPHA:955
HP:0004299	Hernia of the abdominal wall	3423	IDS	ORPHA:217085
HP:0004299	Hernia of the abdominal wall	3423	IDS	OMIM:309900
HP:0004299	Hernia of the abdominal wall	3423	IDS	ORPHA:217093
HP:0004299	Hernia of the abdominal wall	9968	MED12	ORPHA:93932
HP:0004299	Hernia of the abdominal wall	9968	MED12	OMIM:305450
HP:0004299	Hernia of the abdominal wall	9968	MED12	OMIM:300895
HP:0004299	Hernia of the abdominal wall	1183	CLCN4	ORPHA:485350
HP:0004299	Hernia of the abdominal wall	64359	NXN	ORPHA:1507
HP:0004299	Hernia of the abdominal wall	4920	ROR2	ORPHA:1507
HP:0004299	Hernia of the abdominal wall	4920	ROR2	OMIM:268310
HP:0004299	Hernia of the abdominal wall	8626	TP63	ORPHA:93930
HP:0004299	Hernia of the abdominal wall	3670	ISL1	ORPHA:93930
HP:0004299	Hernia of the abdominal wall	1277	COL1A1	ORPHA:287
HP:0004299	Hernia of the abdominal wall	1277	COL1A1	OMIM:619115
HP:0004299	Hernia of the abdominal wall	1277	COL1A1	ORPHA:1899
HP:0004299	Hernia of the abdominal wall	1289	COL5A1	ORPHA:287
HP:0004299	Hernia of the abdominal wall	1289	COL5A1	OMIM:130000
HP:0004299	Hernia of the abdominal wall	1290	COL5A2	ORPHA:287
HP:0004299	Hernia of the abdominal wall	1281	COL3A1	ORPHA:286
HP:0004299	Hernia of the abdominal wall	1281	COL3A1	OMIM:130050
HP:0004299	Hernia of the abdominal wall	23347	SMCHD1	OMIM:603457
HP:0004299	Hernia of the abdominal wall	23347	SMCHD1	ORPHA:2250
HP:0004299	Hernia of the abdominal wall	22872	SEC31A	OMIM:618651
HP:0004299	Hernia of the abdominal wall	54968	TMEM70	OMIM:614052
HP:0004299	Hernia of the abdominal wall	11107	PRDM5	OMIM:614170
HP:0004299	Hernia of the abdominal wall	1656	DDX6	OMIM:618653
HP:0004299	Hernia of the abdominal wall	1501	CTNND2	ORPHA:281
HP:0004299	Hernia of the abdominal wall	9037	SEMA5A	ORPHA:281
HP:0004299	Hernia of the abdominal wall	84314	TMEM107	OMIM:617563
HP:0004299	Hernia of the abdominal wall	2783	GNB2	OMIM:619503
HP:0004299	Hernia of the abdominal wall	26834	RNU4-2	OMIM:620851
HP:0004299	Hernia of the abdominal wall	5337	PLD1	OMIM:212093
HP:0004299	Hernia of the abdominal wall	339983	NAT8L	OMIM:614063
HP:0004299	Hernia of the abdominal wall	23126	POGZ	OMIM:616364
HP:0004299	Hernia of the abdominal wall	23126	POGZ	ORPHA:468678
HP:0004299	Hernia of the abdominal wall	54914	FOCAD	OMIM:619991
HP:0004299	Hernia of the abdominal wall	5048	PAFAH1B1	ORPHA:217385
HP:0004299	Hernia of the abdominal wall	7531	YWHAE	ORPHA:217385
HP:0004299	Hernia of the abdominal wall	9681	DEPDC5	OMIM:620504
HP:0004299	Hernia of the abdominal wall	9091	PIGQ	OMIM:618548
HP:0004299	Hernia of the abdominal wall	6134	RPL10	ORPHA:459070
HP:0004299	Hernia of the abdominal wall	6134	RPL10	OMIM:300998
HP:0004299	Hernia of the abdominal wall	2990	GUSB	ORPHA:584
HP:0004299	Hernia of the abdominal wall	715	C1R	OMIM:130080
HP:0004299	Hernia of the abdominal wall	9158	FIBP	OMIM:617107
HP:0004299	Hernia of the abdominal wall	9158	FIBP	ORPHA:500095
HP:0004299	Hernia of the abdominal wall	2542	SLC37A4	OMIM:619525
HP:0004299	Hernia of the abdominal wall	54487	DGCR8	OMIM:192430
HP:0004299	Hernia of the abdominal wall	6899	TBX1	OMIM:192430
HP:0004299	Hernia of the abdominal wall	6899	TBX1	ORPHA:567
HP:0004299	Hernia of the abdominal wall	6899	TBX1	OMIM:188400
HP:0004299	Hernia of the abdominal wall	8214	DGCR6	OMIM:192430
HP:0004299	Hernia of the abdominal wall	8220	ESS2	OMIM:192430
HP:0004299	Hernia of the abdominal wall	9993	DGCR2	OMIM:192430
HP:0004299	Hernia of the abdominal wall	4621	MYH3	OMIM:178110
HP:0004299	Hernia of the abdominal wall	4621	MYH3	OMIM:193700
HP:0004299	Hernia of the abdominal wall	4621	MYH3	ORPHA:2990
HP:0004299	Hernia of the abdominal wall	2239	GPC4	ORPHA:373
HP:0004299	Hernia of the abdominal wall	2239	GPC4	OMIM:312870
HP:0004299	Hernia of the abdominal wall	2719	GPC3	ORPHA:373
HP:0004299	Hernia of the abdominal wall	2719	GPC3	OMIM:312870
HP:0004299	Hernia of the abdominal wall	79989	IFT56	OMIM:619534
HP:0004299	Hernia of the abdominal wall	284098	PIGW	OMIM:616025
HP:0004299	Hernia of the abdominal wall	259232	NALCN	OMIM:616266
HP:0004299	Hernia of the abdominal wall	23483	TGDS	OMIM:616145
HP:0004299	Hernia of the abdominal wall	4851	NOTCH1	OMIM:616028
HP:0004299	Hernia of the abdominal wall	2260	FGFR1	OMIM:166250
HP:0004299	Hernia of the abdominal wall	2260	FGFR1	ORPHA:2645
HP:0004299	Hernia of the abdominal wall	2006	ELN	ORPHA:90348
HP:0004299	Hernia of the abdominal wall	2006	ELN	OMIM:123700
HP:0004299	Hernia of the abdominal wall	2006	ELN	ORPHA:904
HP:0004299	Hernia of the abdominal wall	2006	ELN	OMIM:194050
HP:0004299	Hernia of the abdominal wall	2006	ELN	ORPHA:91387
HP:0004299	Hernia of the abdominal wall	10516	FBLN5	ORPHA:90348
HP:0004299	Hernia of the abdominal wall	10516	FBLN5	ORPHA:90349
HP:0004299	Hernia of the abdominal wall	10516	FBLN5	OMIM:219100
HP:0004299	Hernia of the abdominal wall	5832	ALDH18A1	ORPHA:90348
HP:0004299	Hernia of the abdominal wall	5832	ALDH18A1	OMIM:219150
HP:0004299	Hernia of the abdominal wall	25836	NIPBL	OMIM:122470
HP:0004299	Hernia of the abdominal wall	2720	GLB1	OMIM:230500
HP:0004299	Hernia of the abdominal wall	2720	GLB1	OMIM:253010
HP:0004299	Hernia of the abdominal wall	4052	LTBP1	ORPHA:90349
HP:0004299	Hernia of the abdominal wall	4052	LTBP1	OMIM:619451
HP:0004299	Hernia of the abdominal wall	30008	EFEMP2	ORPHA:90349
HP:0004299	Hernia of the abdominal wall	30008	EFEMP2	OMIM:614437
HP:0004299	Hernia of the abdominal wall	4087	SMAD2	OMIM:619656
HP:0004299	Hernia of the abdominal wall	4087	SMAD2	ORPHA:91387
HP:0004299	Hernia of the abdominal wall	1107	CHD3	OMIM:618205
HP:0004299	Hernia of the abdominal wall	3339	HSPG2	OMIM:255800
HP:0004299	Hernia of the abdominal wall	3339	HSPG2	ORPHA:800
HP:0004299	Hernia of the abdominal wall	2317	FLNB	OMIM:272460
HP:0004299	Hernia of the abdominal wall	6595	SMARCA2	OMIM:601358
HP:0004299	Hernia of the abdominal wall	1387	CREBBP	OMIM:618332
HP:0004299	Hernia of the abdominal wall	1387	CREBBP	ORPHA:592574
HP:0004299	Hernia of the abdominal wall	8295	TRRAP	OMIM:618454
HP:0004299	Hernia of the abdominal wall	54101	RIPK4	OMIM:263650
HP:0004299	Hernia of the abdominal wall	4212	MEIS2	ORPHA:261190
HP:0004299	Hernia of the abdominal wall	7046	TGFBR1	OMIM:609192
HP:0004299	Hernia of the abdominal wall	7046	TGFBR1	ORPHA:91387
HP:0004299	Hernia of the abdominal wall	5908	RAP1B	OMIM:620654
HP:0004299	Hernia of the abdominal wall	78987	CRELD1	OMIM:620771
HP:0004299	Hernia of the abdominal wall	1801	DPH1	ORPHA:459061
HP:0004299	Hernia of the abdominal wall	1802	DPH2	ORPHA:459061
HP:0004299	Hernia of the abdominal wall	2737	GLI3	ORPHA:672
HP:0004299	Hernia of the abdominal wall	2737	GLI3	ORPHA:36
HP:0004299	Hernia of the abdominal wall	2737	GLI3	OMIM:175700
HP:0004299	Hernia of the abdominal wall	4088	SMAD3	ORPHA:284984
HP:0004299	Hernia of the abdominal wall	4088	SMAD3	OMIM:613795
HP:0004299	Hernia of the abdominal wall	4088	SMAD3	ORPHA:91387
HP:0004299	Hernia of the abdominal wall	6448	SGSH	OMIM:252900
HP:0004299	Hernia of the abdominal wall	5351	PLOD1	OMIM:225400
HP:0004299	Hernia of the abdominal wall	5351	PLOD1	ORPHA:1900
HP:0004299	Hernia of the abdominal wall	1859	DYRK1A	ORPHA:268261
HP:0004299	Hernia of the abdominal wall	10765	KDM5B	OMIM:618109
HP:0004299	Hernia of the abdominal wall	6418	SET	OMIM:618106
HP:0004299	Hernia of the abdominal wall	170689	ADAMTS15	OMIM:620545
HP:0004299	Hernia of the abdominal wall	79813	EHMT1	ORPHA:96147
HP:0004299	Hernia of the abdominal wall	79813	EHMT1	OMIM:610253
HP:0004299	Hernia of the abdominal wall	79813	EHMT1	ORPHA:261652
HP:0004299	Hernia of the abdominal wall	90459	ERI1	OMIM:620662
HP:0004299	Hernia of the abdominal wall	2202	EFEMP1	OMIM:620780
HP:0004299	Hernia of the abdominal wall	2627	GATA6	OMIM:600001
HP:0004299	Hernia of the abdominal wall	374654	KIF7	ORPHA:36
HP:0004299	Hernia of the abdominal wall	374654	KIF7	OMIM:200990
HP:0004299	Hernia of the abdominal wall	374654	KIF7	OMIM:607131
HP:0004299	Hernia of the abdominal wall	2972	BRF1	ORPHA:444072
HP:0004299	Hernia of the abdominal wall	5515	PPP2CA	OMIM:618354
HP:0004299	Hernia of the abdominal wall	23729	SHPK	ORPHA:440713
HP:0004299	Hernia of the abdominal wall	4952	OCRL	ORPHA:534
HP:0004299	Hernia of the abdominal wall	4125	MAN2B1	OMIM:248500
HP:0004299	Hernia of the abdominal wall	6601	SMARCC2	OMIM:618362
HP:0004299	Hernia of the abdominal wall	84068	SLC10A7	OMIM:618363
HP:0004299	Hernia of the abdominal wall	165	AEBP1	OMIM:618000
HP:0004299	Hernia of the abdominal wall	165	AEBP1	ORPHA:536532
HP:0004299	Hernia of the abdominal wall	8260	NAA10	OMIM:300855
HP:0004299	Hernia of the abdominal wall	8260	NAA10	ORPHA:276432
HP:0004299	Hernia of the abdominal wall	5831	PYCR1	OMIM:612940
HP:0004299	Hernia of the abdominal wall	5831	PYCR1	OMIM:614438
HP:0004299	Hernia of the abdominal wall	23476	BRD4	OMIM:620568
HP:0004299	Hernia of the abdominal wall	11080	DNAJB4	OMIM:620326
HP:0004299	Hernia of the abdominal wall	9719	ADAMTSL2	ORPHA:1901
HP:0004299	Hernia of the abdominal wall	9509	ADAMTS2	ORPHA:1901
HP:0004299	Hernia of the abdominal wall	9509	ADAMTS2	OMIM:225410
HP:0004299	Hernia of the abdominal wall	1312	COMT	ORPHA:567
HP:0004299	Hernia of the abdominal wall	221037	JMJD1C	ORPHA:567
HP:0004299	Hernia of the abdominal wall	2812	GP1BB	ORPHA:567
HP:0004299	Hernia of the abdominal wall	6239	RREB1	ORPHA:567
HP:0004299	Hernia of the abdominal wall	7290	HIRA	ORPHA:567
HP:0004299	Hernia of the abdominal wall	9632	SEC24C	ORPHA:567
HP:0004299	Hernia of the abdominal wall	7353	UFD1	ORPHA:567
HP:0004299	Hernia of the abdominal wall	421	ARVCF	ORPHA:567
HP:0004299	Hernia of the abdominal wall	22827	PUF60	ORPHA:508488
HP:0004299	Hernia of the abdominal wall	538	ATP7A	ORPHA:565
HP:0004299	Hernia of the abdominal wall	538	ATP7A	ORPHA:198
HP:0004299	Hernia of the abdominal wall	27031	NPHP3	OMIM:267010
HP:0004299	Hernia of the abdominal wall	1280	COL2A1	OMIM:156550
HP:0004299	Hernia of the abdominal wall	1280	COL2A1	OMIM:184250
HP:0004299	Hernia of the abdominal wall	11342	RNF13	OMIM:618379
HP:0004299	Hernia of the abdominal wall	11342	RNF13	ORPHA:544503
HP:0004299	Hernia of the abdominal wall	7317	UBA1	OMIM:301830
HP:0004299	Hernia of the abdominal wall	84896	ATAD1	OMIM:618011
HP:0004299	Hernia of the abdominal wall	91039	DPP9	OMIM:620331
HP:0004299	Hernia of the abdominal wall	26040	SETBP1	ORPHA:798
HP:0004299	Hernia of the abdominal wall	6874	TAF4	OMIM:620450
HP:0004299	Hernia of the abdominal wall	2316	FLNA	ORPHA:75497
HP:0004299	Hernia of the abdominal wall	9791	PTDSS1	OMIM:151050
HP:0004299	Hernia of the abdominal wall	9791	PTDSS1	ORPHA:2658
HP:0004299	Hernia of the abdominal wall	716	C1S	OMIM:617174
HP:0004299	Hernia of the abdominal wall	10526	IPO8	OMIM:619472
HP:0004299	Hernia of the abdominal wall	64840	PORCN	ORPHA:2092
HP:0004299	Hernia of the abdominal wall	64840	PORCN	OMIM:305600
HP:0004299	Hernia of the abdominal wall	1278	COL1A2	OMIM:225320
HP:0004299	Hernia of the abdominal wall	1278	COL1A2	ORPHA:230851
HP:0004299	Hernia of the abdominal wall	1278	COL1A2	ORPHA:1899
HP:0004299	Hernia of the abdominal wall	94005	PIGS	OMIM:618143
HP:0004299	Hernia of the abdominal wall	6935	ZEB1	OMIM:609141
HP:0004299	Hernia of the abdominal wall	285590	SH3PXD2B	ORPHA:137834
HP:0004299	Hernia of the abdominal wall	10283	CWC27	ORPHA:166035
HP:0004299	Hernia of the abdominal wall	8720	MBTPS1	OMIM:618392
HP:0004299	Hernia of the abdominal wall	23405	DICER1	OMIM:618272
HP:0004299	Hernia of the abdominal wall	51360	MBTPS2	OMIM:308205
HP:0004299	Hernia of the abdominal wall	51360	MBTPS2	ORPHA:2273
HP:0004299	Hernia of the abdominal wall	1457	CSNK2A1	OMIM:617062
HP:0004299	Hernia of the abdominal wall	23112	TNRC6B	OMIM:619243
HP:0004299	Hernia of the abdominal wall	10220	GDF11	OMIM:619122
HP:0004299	Hernia of the abdominal wall	8450	CUL4B	ORPHA:85293
HP:0004299	Hernia of the abdominal wall	2799	GNS	OMIM:252940
HP:0004299	Hernia of the abdominal wall	5295	PIK3R1	ORPHA:3163
HP:0004299	Hernia of the abdominal wall	5295	PIK3R1	OMIM:269880
HP:0004299	Hernia of the abdominal wall	149461	CLDN19	ORPHA:2196
HP:0004299	Hernia of the abdominal wall	84231	TRAF7	OMIM:618164
HP:0004299	Hernia of the abdominal wall	9487	PIGL	OMIM:280000
HP:0004299	Hernia of the abdominal wall	875	CBS	OMIM:236200
HP:0004299	Hernia of the abdominal wall	7474	WNT5A	OMIM:180700
HP:0004299	Hernia of the abdominal wall	7474	WNT5A	ORPHA:3107
HP:0004299	Hernia of the abdominal wall	9897	WASHC5	ORPHA:7
HP:0004299	Hernia of the abdominal wall	28952	CCDC22	ORPHA:7
HP:0004299	Hernia of the abdominal wall	57020	VPS35L	ORPHA:7
HP:0004299	Hernia of the abdominal wall	56896	DPYSL5	ORPHA:7
HP:0004299	Hernia of the abdominal wall	9652	SKIC3	ORPHA:84064
HP:0004299	Hernia of the abdominal wall	6499	SKIC2	ORPHA:84064
HP:0004299	Hernia of the abdominal wall	5518	PPP2R1A	ORPHA:457284
HP:0004299	Hernia of the abdominal wall	3229	HOXC13	OMIM:614931
HP:0004299	Hernia of the abdominal wall	29969	MDFIC	OMIM:620014
HP:0004299	Hernia of the abdominal wall	7042	TGFB2	OMIM:614816
HP:0004299	Hernia of the abdominal wall	7042	TGFB2	ORPHA:91387
HP:0004299	Hernia of the abdominal wall	871	SERPINH1	OMIM:613848
HP:0004299	Hernia of the abdominal wall	8085	KMT2D	OMIM:147920
HP:0004299	Hernia of the abdominal wall	7403	KDM6A	OMIM:147920
HP:0004299	Hernia of the abdominal wall	168667	BMPER	OMIM:608022
HP:0004299	Hernia of the abdominal wall	4702	NDUFA8	OMIM:619272
HP:0004299	Hernia of the abdominal wall	10128	LRPPRC	OMIM:220111
HP:0004299	Hernia of the abdominal wall	55503	TRPV6	OMIM:618188
HP:0004299	Hernia of the abdominal wall	2904	GRIN2B	OMIM:613970
HP:0004299	Hernia of the abdominal wall	57539	WDR35	OMIM:613610
HP:0004299	Hernia of the abdominal wall	145173	B3GLCT	ORPHA:709
HP:0004299	Hernia of the abdominal wall	123263	MTFMT	OMIM:614947
HP:0004299	Hernia of the abdominal wall	4774	NFIA	OMIM:613735
HP:0004299	Hernia of the abdominal wall	4758	NEU1	OMIM:256550
HP:0004299	Hernia of the abdominal wall	4758	NEU1	ORPHA:93399
HP:0004299	Hernia of the abdominal wall	4758	NEU1	ORPHA:93400
HP:0004299	Hernia of the abdominal wall	5352	PLOD2	OMIM:609220
HP:0004299	Hernia of the abdominal wall	64324	NSD1	ORPHA:821
HP:0004299	Hernia of the abdominal wall	64324	NSD1	ORPHA:3447
HP:0004299	Hernia of the abdominal wall	10297	APC2	ORPHA:821
HP:0004299	Hernia of the abdominal wall	10093	ARPC4	OMIM:620141
HP:0004299	Hernia of the abdominal wall	4281	MID1	OMIM:300000
HP:0004299	Hernia of the abdominal wall	4281	MID1	ORPHA:2745
HP:0004299	Hernia of the abdominal wall	8443	GNPAT	OMIM:222765
HP:0004299	Hernia of the abdominal wall	613	BCR	ORPHA:261330
HP:0004299	Hernia of the abdominal wall	1399	CRKL	ORPHA:261330
HP:0004299	Hernia of the abdominal wall	5594	MAPK1	ORPHA:261330
HP:0004299	Hernia of the abdominal wall	25782	RAB3GAP2	OMIM:212720
HP:0004299	Hernia of the abdominal wall	1353	COX11	OMIM:620275
HP:0004299	Hernia of the abdominal wall	6197	RPS6KA3	OMIM:303600
HP:0004299	Hernia of the abdominal wall	6197	RPS6KA3	ORPHA:192
HP:0004299	Hernia of the abdominal wall	1146	CHRNG	OMIM:265000
HP:0004299	Hernia of the abdominal wall	1146	CHRNG	ORPHA:2990
HP:0004299	Hernia of the abdominal wall	57492	ARID1B	OMIM:135900
HP:0004299	Hernia of the abdominal wall	92579	G6PC3	OMIM:612541
HP:0004299	Hernia of the abdominal wall	8289	ARID1A	OMIM:614607
HP:0004299	Hernia of the abdominal wall	6598	SMARCB1	OMIM:614608
HP:0004299	Hernia of the abdominal wall	26053	AUTS2	ORPHA:352490
HP:0004299	Hernia of the abdominal wall	26053	AUTS2	OMIM:615834
HP:0004299	Hernia of the abdominal wall	23314	SATB2	OMIM:612313
HP:0004299	Hernia of the abdominal wall	25942	SIN3A	OMIM:613406
HP:0004299	Hernia of the abdominal wall	3425	IDUA	OMIM:607014
HP:0004299	Hernia of the abdominal wall	3425	IDUA	OMIM:607015
HP:0004299	Hernia of the abdominal wall	175	AGA	ORPHA:93
HP:0004299	Hernia of the abdominal wall	5826	ABCD4	OMIM:614857
HP:0004299	Hernia of the abdominal wall	699	BUB1	OMIM:620183
HP:0004299	Hernia of the abdominal wall	1836	SLC26A2	OMIM:600972
HP:0004299	Hernia of the abdominal wall	197257	LDHD	OMIM:245450
HP:0004299	Hernia of the abdominal wall	1857	DVL3	ORPHA:3107
HP:0004299	Hernia of the abdominal wall	2535	FZD2	ORPHA:3107
HP:0004299	Hernia of the abdominal wall	6804	STX1A	ORPHA:904
HP:0004299	Hernia of the abdominal wall	7461	CLIP2	ORPHA:904
HP:0004299	Hernia of the abdominal wall	84277	DNAJC30	ORPHA:904
HP:0004299	Hernia of the abdominal wall	8468	FKBP6	ORPHA:904
HP:0004299	Hernia of the abdominal wall	5982	RFC2	ORPHA:904
HP:0004299	Hernia of the abdominal wall	2969	GTF2I	ORPHA:904
HP:0004299	Hernia of the abdominal wall	3984	LIMK1	ORPHA:904
HP:0004299	Hernia of the abdominal wall	9569	GTF2IRD1	ORPHA:904
HP:0004299	Hernia of the abdominal wall	155382	VPS37D	ORPHA:904
HP:0004299	Hernia of the abdominal wall	155368	METTL27	ORPHA:904
HP:0004299	Hernia of the abdominal wall	114049	BUD23	ORPHA:904
HP:0004299	Hernia of the abdominal wall	7458	EIF4H	ORPHA:904
HP:0004299	Hernia of the abdominal wall	84163	GTF2IRD2	ORPHA:904
HP:0004299	Hernia of the abdominal wall	26608	TBL2	ORPHA:904
HP:0004299	Hernia of the abdominal wall	653361	NCF1	ORPHA:904
HP:0004299	Hernia of the abdominal wall	135886	TMEM270	ORPHA:904
HP:0004299	Hernia of the abdominal wall	9031	BAZ1B	ORPHA:904
HP:0004299	Hernia of the abdominal wall	10056	FARSB	OMIM:613658
HP:0004299	Hernia of the abdominal wall	81031	SLC2A10	ORPHA:3342
HP:0004299	Hernia of the abdominal wall	81031	SLC2A10	OMIM:208050
HP:0004299	Hernia of the abdominal wall	54499	TMCO1	OMIM:213980
HP:0004299	Hernia of the abdominal wall	84992	PIGY	OMIM:616809
HP:0004299	Hernia of the abdominal wall	10907	TXNL4A	OMIM:608572
HP:0004299	Hernia of the abdominal wall	58508	KMT2C	ORPHA:261652
HP:0004299	Hernia of the abdominal wall	4094	MAF	ORPHA:1272
HP:0004299	Hernia of the abdominal wall	8481	OFD1	OMIM:300209
HP:0004299	Hernia of the abdominal wall	3481	IGF2	ORPHA:397590
HP:0004299	Hernia of the abdominal wall	3481	IGF2	ORPHA:2128
HP:0004299	Hernia of the abdominal wall	1028	CDKN1C	ORPHA:397590
HP:0004299	Hernia of the abdominal wall	5324	PLAG1	ORPHA:397590
HP:0004299	Hernia of the abdominal wall	8091	HMGA2	ORPHA:397590
HP:0004299	Hernia of the abdominal wall	63895	PIEZO2	ORPHA:1154
HP:0004299	Hernia of the abdominal wall	63895	PIEZO2	OMIM:248700
HP:0004299	Hernia of the abdominal wall	51085	MLXIPL	OMIM:194050
HP:0004299	Hernia of the abdominal wall	10984	KCNQ1OT1	ORPHA:2128
HP:0004299	Hernia of the abdominal wall	283120	H19	ORPHA:2128
HP:0004299	Hernia of the abdominal wall	2146	EZH2	OMIM:277590
HP:0004299	Hernia of the abdominal wall	2146	EZH2	ORPHA:3447
HP:0004299	Hernia of the abdominal wall	7048	TGFBR2	OMIM:610168
HP:0004299	Hernia of the abdominal wall	7048	TGFBR2	ORPHA:91387
HP:0004299	Hernia of the abdominal wall	23512	SUZ12	ORPHA:3447
HP:0004299	Hernia of the abdominal wall	55690	PACS1	ORPHA:329224
HP:0004299	Hernia of the abdominal wall	2245	FGD1	ORPHA:915
HP:0004299	Hernia of the abdominal wall	2245	FGD1	OMIM:305400
HP:0004299	Hernia of the abdominal wall	2200	FBN1	ORPHA:2462
HP:0004299	Hernia of the abdominal wall	2200	FBN1	ORPHA:91387
HP:0004299	Hernia of the abdominal wall	6497	SKI	ORPHA:2462
HP:0004299	Hernia of the abdominal wall	6497	SKI	OMIM:182212
HP:0004299	Hernia of the abdominal wall	4089	SMAD4	ORPHA:2588
HP:0004299	Hernia of the abdominal wall	4089	SMAD4	ORPHA:91387
HP:0004299	Hernia of the abdominal wall	411	ARSB	OMIM:253200
HP:0004299	Hernia of the abdominal wall	10847	SRCAP	OMIM:136140
HP:0004299	Hernia of the abdominal wall	4854	NOTCH3	OMIM:130720
HP:0004299	Hernia of the abdominal wall	4854	NOTCH3	ORPHA:2789
HP:0004299	Hernia of the abdominal wall	23291	FBXW11	OMIM:618914
HP:0004299	Hernia of the abdominal wall	4953	ODC1	ORPHA:544488
HP:0004299	Hernia of the abdominal wall	998	CDC42	OMIM:616737
HP:0004299	Hernia of the abdominal wall	998	CDC42	ORPHA:487796
HP:0004299	Hernia of the abdominal wall	55033	FKBP14	OMIM:614557
HP:0004299	Hernia of the abdominal wall	2187	FANCB	ORPHA:3412
HP:0004299	Hernia of the abdominal wall	2657	GDF1	OMIM:208530
HP:0004299	Hernia of the abdominal wall	10265	IRX5	OMIM:611174
HP:0004299	Hernia of the abdominal wall	134701	RIPPLY2	ORPHA:2311
HP:0004299	Hernia of the abdominal wall	10683	DLL3	ORPHA:2311
HP:0004299	Hernia of the abdominal wall	3955	LFNG	ORPHA:2311
HP:0004299	Hernia of the abdominal wall	84667	HES7	ORPHA:2311
HP:0004299	Hernia of the abdominal wall	145873	MESP2	ORPHA:2311
HP:0004299	Hernia of the abdominal wall	55764	IFT122	OMIM:218330
HP:0004299	Hernia of the abdominal wall	367	AR	OMIM:300068
HP:0004299	Hernia of the abdominal wall	8884	SLC5A6	OMIM:619903
HP:0004299	Hernia of the abdominal wall	2626	GATA4	OMIM:615542
HP:0004299	Hernia of the abdominal wall	56623	INPP5E	ORPHA:1454
HP:0004299	Hernia of the abdominal wall	91147	TMEM67	ORPHA:1454
HP:0004299	Hernia of the abdominal wall	23322	RPGRIP1L	ORPHA:1454
HP:0004299	Hernia of the abdominal wall	57545	CC2D2A	ORPHA:1454
HP:0004299	Hernia of the abdominal wall	79633	FAT4	OMIM:615546
HP:0004299	Hernia of the abdominal wall	6785	ELOVL4	OMIM:614457
HP:0004299	Hernia of the abdominal wall	26227	PHGDH	ORPHA:79351
HP:0004299	Hernia of the abdominal wall	2313	FLI1	ORPHA:2308
HP:0004299	Hernia of the abdominal wall	10664	CTCF	ORPHA:363611
HP:0004299	Hernia of the abdominal wall	2588	GALNS	OMIM:253000
HP:0004299	Hernia of the abdominal wall	1861	TOR1A	OMIM:618947
HP:0004299	Hernia of the abdominal wall	8905	AP1S2	ORPHA:1568
HP:0004299	Hernia of the abdominal wall	55617	TASP1	OMIM:618950
HP:0004299	Hernia of the abdominal wall	10243	GPHN	OMIM:149400
HP:0004299	Hernia of the abdominal wall	2741	GLRA1	OMIM:149400
HP:0004299	Hernia of the abdominal wall	523	ATP6V1A	ORPHA:357074
HP:0004299	Hernia of the abdominal wall	523	ATP6V1A	OMIM:617403
HP:0004299	Hernia of the abdominal wall	529	ATP6V1E1	ORPHA:357074
HP:0004299	Hernia of the abdominal wall	7518	XRCC4	OMIM:616541
HP:0004299	Hernia of the abdominal wall	10020	GNE	OMIM:269921
HP:0004299	Hernia of the abdominal wall	51780	KDM3B	OMIM:618846
HP:0004299	Hernia of the abdominal wall	1748	DLX4	OMIM:616788
HP:0004299	Hernia of the abdominal wall	5430	POLR2A	OMIM:618603
HP:0004299	Hernia of the abdominal wall	9469	CHST3	OMIM:245600
HP:0004299	Hernia of the abdominal wall	26229	B3GAT3	OMIM:245600
HP:0004299	Hernia of the abdominal wall	7043	TGFB3	OMIM:615582
HP:0004299	Hernia of the abdominal wall	7043	TGFB3	ORPHA:91387
HP:0004299	Hernia of the abdominal wall	7543	ZFX	OMIM:301118
HP:0004299	Hernia of the abdominal wall	57728	WDR19	OMIM:614376
HP:0004299	Hernia of the abdominal wall	203068	TUBB	ORPHA:2505
HP:0004299	Hernia of the abdominal wall	10982	MAPRE2	ORPHA:2505
HP:0004299	Hernia of the abdominal wall	221927	BRAT1	OMIM:614498
HP:0004299	Hernia of the abdominal wall	170302	ARX	ORPHA:2508
HP:0004299	Hernia of the abdominal wall	4629	MYH11	ORPHA:91387
HP:0004299	Hernia of the abdominal wall	4015	LOX	ORPHA:91387
HP:0004299	Hernia of the abdominal wall	59	ACTA2	ORPHA:91387
HP:0004299	Hernia of the abdominal wall	5592	PRKG1	ORPHA:91387
HP:0004299	Hernia of the abdominal wall	2301	FOXE3	ORPHA:91387
HP:0004299	Hernia of the abdominal wall	4144	MAT2A	ORPHA:91387
HP:0004299	Hernia of the abdominal wall	23493	HEY2	ORPHA:91387
HP:0004299	Hernia of the abdominal wall	8076	MFAP5	ORPHA:91387
HP:0004299	Hernia of the abdominal wall	4638	MYLK	ORPHA:91387
HP:0004299	Hernia of the abdominal wall	79875	THSD4	ORPHA:91387
HP:0004299	Hernia of the abdominal wall	341640	FREM2	ORPHA:2052
HP:0004299	Hernia of the abdominal wall	80144	FRAS1	ORPHA:2052
HP:0004299	Hernia of the abdominal wall	23426	GRIP1	ORPHA:2052
HP:0004299	Hernia of the abdominal wall	1788	DNMT3A	ORPHA:404443
HP:0004299	Hernia of the abdominal wall	1788	DNMT3A	OMIM:615879
HP:0004299	Hernia of the abdominal wall	4487	MSX1	ORPHA:199302
HP:0004299	Hernia of the abdominal wall	5818	NECTIN1	ORPHA:199302
HP:0004299	Hernia of the abdominal wall	3664	IRF6	ORPHA:199302
HP:0004299	Hernia of the abdominal wall	7849	PAX8	OMIM:218700
HP:0004299	Hernia of the abdominal wall	7849	PAX8	ORPHA:95713
HP:0004299	Hernia of the abdominal wall	7849	PAX8	ORPHA:95712
HP:0004299	Hernia of the abdominal wall	283489	CHAMP1	OMIM:616579
HP:0004299	Hernia of the abdominal wall	72	ACTG2	ORPHA:2604
HP:0004299	Hernia of the abdominal wall	72	ACTG2	ORPHA:2241
HP:0004299	Hernia of the abdominal wall	23384	SPECC1L	ORPHA:1519
HP:0004299	Hernia of the abdominal wall	3764	KCNJ8	ORPHA:1517
HP:0004299	Hernia of the abdominal wall	10060	ABCC9	ORPHA:1517
HP:0004299	Hernia of the abdominal wall	10060	ABCC9	OMIM:239850
HP:0004299	Hernia of the abdominal wall	55636	CHD7	ORPHA:138
HP:0004299	Hernia of the abdominal wall	55636	CHD7	OMIM:214800
HP:0004299	Hernia of the abdominal wall	9723	SEMA3E	ORPHA:138
HP:0004299	Hernia of the abdominal wall	7253	TSHR	ORPHA:90673
HP:0004299	Hernia of the abdominal wall	7253	TSHR	ORPHA:95713
HP:0004299	Hernia of the abdominal wall	7252	TSHB	ORPHA:90674
HP:0004299	Hernia of the abdominal wall	7252	TSHB	OMIM:275100
HP:0004299	Hernia of the abdominal wall	29957	SLC25A24	ORPHA:2963
HP:0004299	Hernia of the abdominal wall	29957	SLC25A24	ORPHA:2095
HP:0004299	Hernia of the abdominal wall	29957	SLC25A24	OMIM:612289
HP:0004299	Hernia of the abdominal wall	54453	RIN2	OMIM:613075
HP:0004299	Hernia of the abdominal wall	54453	RIN2	ORPHA:217335
HP:0004299	Hernia of the abdominal wall	50814	NSDHL	OMIM:308050
HP:0004299	Hernia of the abdominal wall	672	BRCA1	ORPHA:84
HP:0004299	Hernia of the abdominal wall	10459	MAD2L2	ORPHA:84
HP:0004299	Hernia of the abdominal wall	7516	XRCC2	ORPHA:84
HP:0004299	Hernia of the abdominal wall	29089	UBE2T	ORPHA:84
HP:0004299	Hernia of the abdominal wall	675	BRCA2	ORPHA:84
HP:0004299	Hernia of the abdominal wall	55120	FANCL	ORPHA:84
HP:0004299	Hernia of the abdominal wall	2177	FANCD2	ORPHA:84
HP:0004299	Hernia of the abdominal wall	2175	FANCA	ORPHA:84
HP:0004299	Hernia of the abdominal wall	2176	FANCC	ORPHA:84
HP:0004299	Hernia of the abdominal wall	2178	FANCE	ORPHA:84
HP:0004299	Hernia of the abdominal wall	2188	FANCF	ORPHA:84
HP:0004299	Hernia of the abdominal wall	2189	FANCG	ORPHA:84
HP:0004299	Hernia of the abdominal wall	5888	RAD51	ORPHA:84
HP:0004299	Hernia of the abdominal wall	5889	RAD51C	ORPHA:84
HP:0004299	Hernia of the abdominal wall	55159	RFWD3	ORPHA:84
HP:0004299	Hernia of the abdominal wall	83990	BRIP1	ORPHA:84
HP:0004299	Hernia of the abdominal wall	57697	FANCM	ORPHA:84
HP:0004299	Hernia of the abdominal wall	79728	PALB2	ORPHA:84
HP:0004299	Hernia of the abdominal wall	84464	SLX4	ORPHA:84
HP:0004299	Hernia of the abdominal wall	2072	ERCC4	ORPHA:84
HP:0004299	Hernia of the abdominal wall	55215	FANCI	ORPHA:84
HP:0004299	Hernia of the abdominal wall	2697	GJA1	ORPHA:2710
HP:0004299	Hernia of the abdominal wall	10555	AGPAT2	OMIM:608594
HP:0004299	Hernia of the abdominal wall	8726	EED	OMIM:617561
HP:0004299	Hernia of the abdominal wall	29128	UHRF1	ORPHA:2268
HP:0004299	Hernia of the abdominal wall	3070	HELLS	ORPHA:2268
HP:0004299	Hernia of the abdominal wall	1789	DNMT3B	ORPHA:2268
HP:0004299	Hernia of the abdominal wall	83879	CDCA7	ORPHA:2268
HP:0004299	Hernia of the abdominal wall	9841	ZBTB24	ORPHA:2268
HP:0004299	Hernia of the abdominal wall	1009	CDH11	ORPHA:1299
HP:0004299	Hernia of the abdominal wall	1954	MEGF8	OMIM:614976
HP:0004299	Hernia of the abdominal wall	1954	MEGF8	ORPHA:65759
HP:0004299	Hernia of the abdominal wall	649	BMP1	OMIM:614856
HP:0004299	Hernia of the abdominal wall	4036	LRP2	ORPHA:2143
HP:0004299	Hernia of the abdominal wall	4036	LRP2	OMIM:222448
HP:0004299	Hernia of the abdominal wall	1947	EFNB1	OMIM:304110
HP:0004299	Hernia of the abdominal wall	5626	PROP1	ORPHA:226307
HP:0004299	Hernia of the abdominal wall	89884	LHX4	ORPHA:226307
HP:0004299	Hernia of the abdominal wall	8022	LHX3	ORPHA:226307
HP:0004299	Hernia of the abdominal wall	5449	POU1F1	ORPHA:226307
HP:0004299	Hernia of the abdominal wall	8820	HESX1	ORPHA:226307
HP:0004299	Hernia of the abdominal wall	79753	SNIP1	OMIM:614501
HP:0004299	Hernia of the abdominal wall	5593	PRKG2	OMIM:619636
HP:0004299	Hernia of the abdominal wall	8364	H4C3	OMIM:619758
HP:0004299	Hernia of the abdominal wall	8517	IKBKG	ORPHA:464
HP:0004299	Hernia of the abdominal wall	50506	DUOX2	ORPHA:226316
HP:0004299	Hernia of the abdominal wall	50506	DUOX2	ORPHA:95716
HP:0004299	Hernia of the abdominal wall	25802	LMOD1	ORPHA:2241
HP:0004299	Hernia of the abdominal wall	51341	ZBTB7A	OMIM:619769
HP:0004299	Hernia of the abdominal wall	55343	SLC35C1	ORPHA:99843
HP:0004299	Hernia of the abdominal wall	7030	TFE3	OMIM:301066
HP:0004299	Hernia of the abdominal wall	285203	EOGT	OMIM:615297
HP:0004299	Hernia of the abdominal wall	57479	PRR12	OMIM:619539
HP:0004299	Hernia of the abdominal wall	84168	ANTXR1	OMIM:230740
HP:0004299	Hernia of the abdominal wall	84168	ANTXR1	ORPHA:2067
HP:0004299	Hernia of the abdominal wall	64919	BCL11B	OMIM:617237
HP:0004299	Hernia of the abdominal wall	3930	LBR	OMIM:169400
HP:0004299	Hernia of the abdominal wall	9321	TRIP11	ORPHA:93299
HP:0004299	Hernia of the abdominal wall	404672	GTF2H5	ORPHA:33364
HP:0004299	Hernia of the abdominal wall	833	CARS1	ORPHA:33364
HP:0004299	Hernia of the abdominal wall	2068	ERCC2	ORPHA:33364
HP:0004299	Hernia of the abdominal wall	7737	RNF113A	ORPHA:33364
HP:0004299	Hernia of the abdominal wall	136647	MPLKIP	ORPHA:33364
HP:0004299	Hernia of the abdominal wall	6897	TARS1	ORPHA:33364
HP:0004299	Hernia of the abdominal wall	16	AARS1	ORPHA:33364
HP:0004299	Hernia of the abdominal wall	2071	ERCC3	ORPHA:33364
HP:0004299	Hernia of the abdominal wall	2961	GTF2E2	ORPHA:33364
HP:0004299	Hernia of the abdominal wall	147372	CCBE1	OMIM:235510
HP:0004299	Hernia of the abdominal wall	6528	SLC5A5	OMIM:274400
HP:0004299	Hernia of the abdominal wall	6528	SLC5A5	ORPHA:95716
HP:0004299	Hernia of the abdominal wall	117581	TWIST2	ORPHA:920
HP:0004299	Hernia of the abdominal wall	9742	IFT140	OMIM:266920
HP:0004299	Hernia of the abdominal wall	51053	GMNN	OMIM:616835
HP:0004299	Hernia of the abdominal wall	90417	KNSTRN	OMIM:613328
HP:0004299	Hernia of the abdominal wall	90417	KNSTRN	ORPHA:221139
HP:0004299	Hernia of the abdominal wall	5293	PIK3CD	OMIM:613328
HP:0004299	Hernia of the abdominal wall	5293	PIK3CD	ORPHA:221139
HP:0004299	Hernia of the abdominal wall	6792	CDKL5	ORPHA:1934
HP:0004299	Hernia of the abdominal wall	3736	KCNA1	ORPHA:1934
HP:0004299	Hernia of the abdominal wall	140679	SLC32A1	ORPHA:1934
HP:0004299	Hernia of the abdominal wall	2775	GNAO1	ORPHA:1934
HP:0004299	Hernia of the abdominal wall	81603	TRIM8	ORPHA:1934
HP:0004299	Hernia of the abdominal wall	2902	GRIN1	ORPHA:1934
HP:0004299	Hernia of the abdominal wall	79751	SLC25A22	ORPHA:1934
HP:0004299	Hernia of the abdominal wall	150094	SIK1	ORPHA:1934
HP:0004299	Hernia of the abdominal wall	8573	CASK	ORPHA:1934
HP:0004299	Hernia of the abdominal wall	23312	DMXL2	ORPHA:1934
HP:0004299	Hernia of the abdominal wall	2917	GRM7	ORPHA:1934
HP:0004299	Hernia of the abdominal wall	11284	PNKP	ORPHA:1934
HP:0004299	Hernia of the abdominal wall	6326	SCN2A	ORPHA:1934
HP:0004299	Hernia of the abdominal wall	51227	PIGP	ORPHA:1934
HP:0004299	Hernia of the abdominal wall	6324	SCN1B	ORPHA:1934
HP:0004299	Hernia of the abdominal wall	4761	NEUROD2	ORPHA:1934
HP:0004299	Hernia of the abdominal wall	9361	LONP1	OMIM:600373
HP:0004299	Hernia of the abdominal wall	9759	HDAC4	ORPHA:1001
HP:0004299	Hernia of the abdominal wall	4076	CAPRIN1	OMIM:620782
HP:0004299	Hernia of the abdominal wall	546	ATRX	OMIM:301040
HP:0004299	Hernia of the abdominal wall	6299	SALL1	OMIM:107480
HP:0004299	Hernia of the abdominal wall	169792	GLIS3	OMIM:610199
HP:0004299	Hernia of the abdominal wall	3097	HIVEP2	OMIM:616977
HP:0004299	Hernia of the abdominal wall	3767	KCNJ11	ORPHA:99886
HP:0004299	Hernia of the abdominal wall	346171	ZFP57	ORPHA:99886
HP:0004299	Hernia of the abdominal wall	57061	HYMAI	ORPHA:99886
HP:0004299	Hernia of the abdominal wall	57061	HYMAI	ORPHA:96191
HP:0004299	Hernia of the abdominal wall	6833	ABCC8	ORPHA:99886
HP:0004299	Hernia of the abdominal wall	5325	PLAGL1	ORPHA:99886
HP:0004299	Hernia of the abdominal wall	5325	PLAGL1	ORPHA:96191
HP:0004299	Hernia of the abdominal wall	79068	FTO	OMIM:612938
HP:0004299	Hernia of the abdominal wall	4784	NFIX	OMIM:602535
HP:0004299	Hernia of the abdominal wall	3756	KCNH1	OMIM:135500
HP:0004299	Hernia of the abdominal wall	10082	GPC6	OMIM:258315
HP:0004299	Hernia of the abdominal wall	405753	DUOXA2	ORPHA:95716
HP:0004299	Hernia of the abdominal wall	7038	TG	ORPHA:95716
HP:0004299	Hernia of the abdominal wall	7173	TPO	ORPHA:95716
HP:0004299	Hernia of the abdominal wall	389434	IYD	ORPHA:95716
HP:0004299	Hernia of the abdominal wall	55603	TENT5A	OMIM:617952
HP:0004299	Hernia of the abdominal wall	7080	NKX2-1	ORPHA:95713
HP:0004299	Hernia of the abdominal wall	1482	NKX2-5	ORPHA:95713
HP:0004299	Hernia of the abdominal wall	1482	NKX2-5	ORPHA:95712
HP:0004299	Hernia of the abdominal wall	2304	FOXE1	ORPHA:95713
HP:0004299	Hernia of the abdominal wall	5172	SLC26A4	ORPHA:95713
HP:0004299	Hernia of the abdominal wall	2019	EN1	OMIM:619218
HP:0004299	Hernia of the abdominal wall	23389	MED13L	ORPHA:369891
HP:0004299	Hernia of the abdominal wall	6045	RNF2	OMIM:619460
HP:0004299	Hernia of the abdominal wall	2743	GLRB	ORPHA:3197
HP:0004299	Hernia of the abdominal wall	9152	SLC6A5	ORPHA:3197
HP:0004299	Hernia of the abdominal wall	633	BGN	OMIM:300989
HP:0004299	Hernia of the abdominal wall	2475	MTOR	OMIM:616638
HP:0004299	Hernia of the abdominal wall	51715	RAB23	ORPHA:65759
HP:0004299	Hernia of the abdominal wall	51715	RAB23	OMIM:201000
HP:0004299	Hernia of the abdominal wall	64864	RFX7	OMIM:620330
HP:0004299	Hernia of the abdominal wall	84265	POLR3GL	OMIM:619234
HP:0004299	Hernia of the abdominal wall	26580	BSCL2	OMIM:269700
HP:0004299	Hernia of the abdominal wall	54880	BCOR	OMIM:300166
HP:0004299	Hernia of the abdominal wall	2263	FGFR2	ORPHA:1555
HP:0004299	Hernia of the abdominal wall	100506658	OCLN	OMIM:251290
HP:0004299	Hernia of the abdominal wall	23169	SLC35D1	OMIM:269250
HP:0004299	Hernia of the abdominal wall	60	ACTB	OMIM:620475
HP:0004299	Hernia of the abdominal wall	5879	RAC1	OMIM:617751
HP:0004299	Hernia of the abdominal wall	5879	RAC1	ORPHA:500159
HP:0004299	Hernia of the abdominal wall	10584	COLEC10	ORPHA:293843
HP:0004299	Hernia of the abdominal wall	5648	MASP1	ORPHA:293843
HP:0004299	Hernia of the abdominal wall	78989	COLEC11	ORPHA:293843
HP:0004299	Hernia of the abdominal wall	63916	ELMO2	OMIM:606893
HP:0004299	Hernia of the abdominal wall	5479	PPIB	OMIM:259440
HP:0004299	Hernia of the abdominal wall	5727	PTCH1	ORPHA:77301
HP:0004299	Hernia of the abdominal wall	55553	SOX6	OMIM:618971
HP:0004299	Hernia of the abdominal wall	2294	FOXF1	OMIM:265380
HP:0004299	Hernia of the abdominal wall	28981	IFT81	OMIM:617895
HP:0004299	Hernia of the abdominal wall	23556	PIGN	ORPHA:2059
HP:0004299	Hernia of the abdominal wall	55112	DYNC2I1	ORPHA:93271
HP:0004299	Hernia of the abdominal wall	57560	IFT80	ORPHA:93271
HP:0004299	Hernia of the abdominal wall	79659	DYNC2H1	ORPHA:93271
HP:0004299	Hernia of the abdominal wall	89891	DYNC2I2	ORPHA:93271
HP:0004299	Hernia of the abdominal wall	91754	NEK9	OMIM:617022
HP:0004299	Hernia of the abdominal wall	51259	TMEM216	OMIM:603194
HP:0004299	Hernia of the abdominal wall	10225	CD96	OMIM:211750
HP:0004299	Hernia of the abdominal wall	10225	CD96	ORPHA:1308
HP:0004299	Hernia of the abdominal wall	7547	ZIC3	OMIM:306955
HP:0004299	Hernia of the abdominal wall	1147	CHUK	OMIM:613630
HP:0004299	Hernia of the abdominal wall	158326	FREM1	ORPHA:3366
HP:0004299	Hernia of the abdominal wall	158326	FREM1	OMIM:248450
HP:0004299	Hernia of the abdominal wall	4313	MMP2	ORPHA:371428
HP:0004299	Hernia of the abdominal wall	4323	MMP14	ORPHA:371428
HP:0004299	Hernia of the abdominal wall	1301	COL11A1	OMIM:228520
HP:0004299	Hernia of the abdominal wall	1301	COL11A1	ORPHA:2021
HP:0004299	Hernia of the abdominal wall	79796	ALG9	OMIM:263210
HP:0004299	Hernia of the abdominal wall	79796	ALG9	ORPHA:79328
HP:0004299	Hernia of the abdominal wall	7067	THRA	OMIM:614450
HP:0004299	Hernia of the abdominal wall	55012	PPP2R3C	OMIM:618419
HP:0004299	Hernia of the abdominal wall	5332	PLCB4	OMIM:620458
HP:0004299	Hernia of the abdominal wall	10046	MAMLD1	ORPHA:95706
HP:0004299	Hernia of the abdominal wall	1302	COL11A2	ORPHA:2021
HP:0004299	Hernia of the abdominal wall	4524	MTHFR	ORPHA:563609
HP:0004299	Hernia of the abdominal wall	57216	VANGL2	ORPHA:563609
HP:0004299	Hernia of the abdominal wall	81788	NUAK2	ORPHA:563609
HP:0004299	Hernia of the abdominal wall	57217	TTC7A	OMIM:243150
HP:0004299	Hernia of the abdominal wall	57217	TTC7A	ORPHA:436252
HP:0004299	Hernia of the abdominal wall	4659	PPP1R12A	OMIM:618820
HP:0004299	Hernia of the abdominal wall	2571	GAD1	OMIM:619124
HP:0004299	Hernia of the abdominal wall	9772	TMEM94	OMIM:618316
HP:0004299	Hernia of the abdominal wall	139285	AMER1	OMIM:300373
HP:0004299	Hernia of the abdominal wall	3090	HIC1	ORPHA:531
HP:0004299	Hernia of the abdominal wall	153241	CEP120	OMIM:616300
HP:0004299	Hernia of the abdominal wall	3784	KCNQ1	OMIM:130650
HP:0004299	Hernia of the abdominal wall	727857	BHLHA9	ORPHA:3329
HP:0004299	Hernia of the abdominal wall	5297	PI4KA	ORPHA:436252
HP:0004299	Hernia of the abdominal wall	219844	HYLS1	OMIM:236680
HP:0004299	Hernia of the abdominal wall	3239	HOXD13	ORPHA:887
HP:0004299	Hernia of the abdominal wall	54903	MKS1	OMIM:249000
HP:0004299	Hernia of the abdominal wall	51339	DACT1	ORPHA:63260
HP:0004299	Hernia of the abdominal wall	4204	MECP2	ORPHA:1762
HP:0004299	Hernia of the abdominal wall	114548	NLRP3	ORPHA:575
HP:0004299	Hernia of the abdominal wall	388015	RTL1	ORPHA:96334
HP:0004299	Hernia of the abdominal wall	8788	DLK1	ORPHA:96334
HP:0004299	Hernia of the abdominal wall	55384	MEG3	ORPHA:96334
HP:0004299	Hernia of the abdominal wall	6926	TBX3	ORPHA:3138
HP:0004299	Hernia of the abdominal wall	157922	CAMSAP1	OMIM:620316
HP:0004243	Abnormality of the scaphoid	64327	LMBR1	ORPHA:93321
HP:0004243	Abnormality of the scaphoid	6469	SHH	ORPHA:93321
HP:0004242	Broad carpal bones	54808	DYM	ORPHA:239
HP:0004242	Broad carpal bones	3417	IDH1	ORPHA:99646
HP:0001040	Multiple pterygia	4621	MYH3	OMIM:178110
HP:0001040	Multiple pterygia	4621	MYH3	ORPHA:2990
HP:0001040	Multiple pterygia	1134	CHRNA1	OMIM:253290
HP:0001040	Multiple pterygia	1146	CHRNG	OMIM:253290
HP:0001040	Multiple pterygia	1146	CHRNG	ORPHA:2990
HP:0001040	Multiple pterygia	1144	CHRND	OMIM:253290
HP:0001041	Facial erythema	51360	MBTPS2	OMIM:308800
HP:0001041	Facial erythema	399	RHOH	OMIM:618307
HP:0001041	Facial erythema	9401	RECQL4	ORPHA:221016
HP:0001041	Facial erythema	641	BLM	OMIM:210900
HP:0001041	Facial erythema	3785	KCNQ2	ORPHA:439218
HP:0001041	Facial erythema	2783	GNB2	OMIM:619503
HP:0001041	Facial erythema	9049	AIP	OMIM:219090
HP:0001041	Facial erythema	9101	USP8	OMIM:219090
HP:0001041	Facial erythema	2697	GJA1	ORPHA:1010
HP:0001041	Facial erythema	713	C1QB	OMIM:620321
HP:0001041	Facial erythema	30817	ADGRE2	OMIM:125630
HP:0001041	Facial erythema	64682	ANAPC1	ORPHA:221008
HP:0001042	High axial triradius	2033	EP300	OMIM:180849
HP:0001042	High axial triradius	1387	CREBBP	OMIM:180849
HP:0001043	Prominent scalp veins	84168	ANTXR1	OMIM:230740
HP:0001043	Prominent scalp veins	9791	PTDSS1	OMIM:151050
HP:0001043	Prominent scalp veins	11128	POLR3A	OMIM:264090
HP:0001043	Prominent scalp veins	11128	POLR3A	ORPHA:3455
HP:0001045	Vitiligo	64421	DCLRE1C	ORPHA:275
HP:0001045	Vitiligo	4558	MT-TF	ORPHA:550
HP:0001045	Vitiligo	4572	MT-TQ	ORPHA:550
HP:0001045	Vitiligo	4512	MT-CO1	ORPHA:550
HP:0001045	Vitiligo	4513	MT-CO2	ORPHA:550
HP:0001045	Vitiligo	4514	MT-CO3	ORPHA:550
HP:0001045	Vitiligo	4578	MT-TW	ORPHA:550
HP:0001045	Vitiligo	4540	MT-ND5	ORPHA:550
HP:0001045	Vitiligo	4541	MT-ND6	ORPHA:550
HP:0001045	Vitiligo	4535	MT-ND1	ORPHA:550
HP:0001045	Vitiligo	4538	MT-ND4	ORPHA:550
HP:0001045	Vitiligo	4567	MT-TL1	ORPHA:550
HP:0001045	Vitiligo	4574	MT-TS1	ORPHA:550
HP:0001045	Vitiligo	4575	MT-TS2	ORPHA:550
HP:0001045	Vitiligo	4564	MT-TH	ORPHA:550
HP:0001045	Vitiligo	54	ACP5	OMIM:607944
HP:0001045	Vitiligo	54	ACP5	ORPHA:1855
HP:0001045	Vitiligo	22861	NLRP1	OMIM:606579
HP:0001045	Vitiligo	4791	NFKB2	ORPHA:293978
HP:0001045	Vitiligo	326	AIRE	OMIM:240300
HP:0001045	Vitiligo	284058	KANSL1	ORPHA:363958
HP:0001045	Vitiligo	284058	KANSL1	ORPHA:363965
HP:0001045	Vitiligo	84464	SLX4	OMIM:613951
HP:0001045	Vitiligo	847	CAT	ORPHA:926
HP:0001045	Vitiligo	4254	KITLG	OMIM:145250
HP:0001045	Vitiligo	5336	PLCG2	OMIM:614468
HP:0001045	Vitiligo	987	LRBA	OMIM:614700
HP:0001045	Vitiligo	55806	HR	ORPHA:701
HP:0001045	Vitiligo	23126	POGZ	ORPHA:468678
HP:0001045	Vitiligo	25778	DSTYK	ORPHA:101003
HP:0001045	Vitiligo	25778	DSTYK	OMIM:270750
HP:0001045	Vitiligo	27022	FOXD3	OMIM:607836
HP:0001045	Vitiligo	7852	CXCR4	ORPHA:51636
HP:0001045	Vitiligo	28755	TRAC	OMIM:615387
HP:0001045	Vitiligo	355	FAS	ORPHA:3437
HP:0001045	Vitiligo	26191	PTPN22	ORPHA:3437
HP:0001045	Vitiligo	56259	CTNNBL1	OMIM:619846
HP:0001045	Vitiligo	868	CBLB	OMIM:620430
HP:0001045	Vitiligo	23065	EMC1	ORPHA:480898
HP:0001045	Vitiligo	4683	NBN	OMIM:251260
HP:0001046	Intermittent jaundice	5205	ATP8B1	OMIM:243300
HP:0001046	Intermittent jaundice	8647	ABCB11	OMIM:601847
HP:0001046	Intermittent jaundice	28234	SLCO1B3	ORPHA:3111
HP:0001046	Intermittent jaundice	10599	SLCO1B1	ORPHA:3111
HP:0001046	Intermittent jaundice	6710	SPTB	OMIM:617948
HP:0001046	Intermittent jaundice	6521	SLC4A1	ORPHA:3202
HP:0001046	Intermittent jaundice	9780	PIEZO1	ORPHA:3202
HP:0001046	Intermittent jaundice	3783	KCNN4	ORPHA:3202
HP:0001046	Intermittent jaundice	6005	RHAG	ORPHA:3203
HP:0001047	Atopic dermatitis	2615	LRRC32	OMIM:619074
HP:0001047	Atopic dermatitis	84905	ZNF341	OMIM:618282
HP:0001047	Atopic dermatitis	388698	FLG2	OMIM:618084
HP:0001047	Atopic dermatitis	3735	KARS1	ORPHA:3240
HP:0001047	Atopic dermatitis	3572	IL6ST	OMIM:619752
HP:0001047	Atopic dermatitis	10526	IPO8	OMIM:619472
HP:0001047	Atopic dermatitis	91754	NEK9	OMIM:614262
HP:0001047	Atopic dermatitis	1493	CTLA4	ORPHA:436159
HP:0001047	Atopic dermatitis	1041	CDSN	ORPHA:90368
HP:0001047	Atopic dermatitis	121391	KRT74	ORPHA:90368
HP:0001047	Atopic dermatitis	5818	NECTIN1	OMIM:225060
HP:0001047	Atopic dermatitis	6573	SLC19A1	OMIM:620603
HP:0001047	Atopic dermatitis	5238	PGM3	ORPHA:443811
HP:0001047	Atopic dermatitis	673	BRAF	OMIM:115150
HP:0001047	Atopic dermatitis	84433	CARD11	OMIM:617638
HP:0001047	Atopic dermatitis	22800	RRAS2	OMIM:618624
HP:0001047	Atopic dermatitis	3570	IL6R	OMIM:618944
HP:0001047	Atopic dermatitis	8456	FOXN1	OMIM:618806
HP:0001047	Atopic dermatitis	5498	PPOX	OMIM:620483
HP:0001047	Atopic dermatitis	10060	ABCC9	OMIM:619719
HP:0001047	Atopic dermatitis	3514	IGKC	ORPHA:183675
HP:0001047	Atopic dermatitis	3501	IGHG2	ORPHA:183675
HP:0001047	Atopic dermatitis	55806	HR	ORPHA:701
HP:0001047	Atopic dermatitis	1080	CFTR	ORPHA:498359
HP:0001047	Atopic dermatitis	81704	DOCK8	OMIM:243700
HP:0001047	Atopic dermatitis	81704	DOCK8	ORPHA:217390
HP:0001047	Atopic dermatitis	10847	SRCAP	OMIM:136140
HP:0001047	Atopic dermatitis	6340	SCNN1G	ORPHA:171876
HP:0001047	Atopic dermatitis	6337	SCNN1A	ORPHA:171876
HP:0001047	Atopic dermatitis	6338	SCNN1B	ORPHA:171876
HP:0001047	Atopic dermatitis	23102	TBC1D2B	ORPHA:397973
HP:0001047	Atopic dermatitis	3848	KRT1	ORPHA:530838
HP:0001047	Atopic dermatitis	3313	HSPA9	OMIM:616854
HP:0001047	Atopic dermatitis	22880	MORC2	ORPHA:466768
HP:0001047	Atopic dermatitis	64135	IFIH1	OMIM:615846
HP:0001047	Atopic dermatitis	2783	GNB2	OMIM:619503
HP:0001047	Atopic dermatitis	3716	JAK1	OMIM:618999
HP:0001047	Atopic dermatitis	6778	STAT6	OMIM:620532
HP:0001047	Atopic dermatitis	91039	DPP9	OMIM:620331
HP:0001047	Atopic dermatitis	4067	LYN	OMIM:620376
HP:0001048	Cavernous hemangioma	10483	SEC23B	ORPHA:201
HP:0001048	Cavernous hemangioma	5728	PTEN	ORPHA:201
HP:0001048	Cavernous hemangioma	6390	SDHB	ORPHA:201
HP:0001048	Cavernous hemangioma	6392	SDHD	ORPHA:201
HP:0001048	Cavernous hemangioma	6391	SDHC	ORPHA:201
HP:0001048	Cavernous hemangioma	207	AKT1	ORPHA:201
HP:0001048	Cavernous hemangioma	205717	USF3	ORPHA:201
HP:0001048	Cavernous hemangioma	5290	PIK3CA	ORPHA:201
HP:0001048	Cavernous hemangioma	5290	PIK3CA	ORPHA:221061
HP:0001048	Cavernous hemangioma	100144748	KLLN	ORPHA:201
HP:0001048	Cavernous hemangioma	11235	PDCD10	ORPHA:221061
HP:0001048	Cavernous hemangioma	83605	CCM2	ORPHA:221061
HP:0001048	Cavernous hemangioma	889	KRIT1	ORPHA:221061
HP:0001048	Cavernous hemangioma	3265	HRAS	ORPHA:2612
HP:0001048	Cavernous hemangioma	3845	KRAS	ORPHA:2612
HP:0001048	Cavernous hemangioma	3845	KRAS	ORPHA:1340
HP:0001048	Cavernous hemangioma	4893	NRAS	ORPHA:2612
HP:0001048	Cavernous hemangioma	7010	TEK	ORPHA:1059
HP:0001048	Cavernous hemangioma	4851	NOTCH1	OMIM:616028
HP:0001048	Cavernous hemangioma	673	BRAF	OMIM:115150
HP:0001048	Cavernous hemangioma	673	BRAF	ORPHA:1340
HP:0001048	Cavernous hemangioma	5604	MAP2K1	ORPHA:1340
HP:0001048	Cavernous hemangioma	5605	MAP2K2	ORPHA:1340
HP:0001048	Cavernous hemangioma	26834	RNU4-2	OMIM:620851
HP:0001048	Cavernous hemangioma	79158	GNPTAB	OMIM:252500
HP:0001048	Cavernous hemangioma	55901	THSD1	OMIM:620244
HP:0001048	Cavernous hemangioma	274	BIN1	ORPHA:169189
HP:0001048	Cavernous hemangioma	64419	MTMR14	ORPHA:169189
HP:0001048	Cavernous hemangioma	4618	MYF6	ORPHA:169189
HP:0001048	Cavernous hemangioma	1785	DNM2	ORPHA:169189
HP:0001048	Cavernous hemangioma	6261	RYR1	ORPHA:169189
HP:0001048	Cavernous hemangioma	3239	HOXD13	ORPHA:887
HP:0001048	Cavernous hemangioma	3417	IDH1	ORPHA:99646
HP:0001048	Cavernous hemangioma	157570	ESCO2	OMIM:268300
HP:0001048	Cavernous hemangioma	490	ATP2B1	OMIM:619910
HP:0001049	Absent dorsal skin creases over affected joints	50515	CHST11	OMIM:618167
HP:0004241	Stippled calcification in carpal bones	10682	EBP	OMIM:302960
HP:0004241	Stippled calcification in carpal bones	10568	SLC34A2	ORPHA:60025
HP:0004240	Sclerotic foci within carpal bones	23592	LEMD3	ORPHA:166119
HP:0004259	Abnormality of the hamate bone	5566	PRKACA	ORPHA:289
HP:0004259	Abnormality of the hamate bone	5567	PRKACB	ORPHA:289
HP:0004259	Abnormality of the hamate bone	2735	GLI1	ORPHA:289
HP:0004259	Abnormality of the hamate bone	2121	EVC	ORPHA:289
HP:0004259	Abnormality of the hamate bone	2121	EVC	OMIM:225500
HP:0004259	Abnormality of the hamate bone	51626	DYNC2LI1	ORPHA:289
HP:0004259	Abnormality of the hamate bone	132884	EVC2	ORPHA:289
HP:0004259	Abnormality of the hamate bone	132884	EVC2	OMIM:225500
HP:0004259	Abnormality of the hamate bone	2316	FLNA	OMIM:311300
HP:0004259	Abnormality of the hamate bone	64093	SMOC1	OMIM:206920
HP:0004259	Abnormality of the hamate bone	538	ATP7A	OMIM:304150
HP:0004259	Abnormality of the hamate bone	2317	FLNB	OMIM:272460
HP:0004259	Abnormality of the hamate bone	54928	BPNT2	OMIM:614078
HP:0004259	Abnormality of the hamate bone	2261	FGFR3	OMIM:602849
HP:0004252	Abnormality of the trapezium	64327	LMBR1	ORPHA:93321
HP:0004252	Abnormality of the trapezium	6469	SHH	ORPHA:93321
HP:0004225	Abnormality of the distal phalanx of the 5th finger	1280	COL2A1	OMIM:271700
HP:0004225	Abnormality of the distal phalanx of the 5th finger	10236	HNRNPR	OMIM:620073
HP:0004225	Abnormality of the distal phalanx of the 5th finger	57492	ARID1B	OMIM:135900
HP:0004225	Abnormality of the distal phalanx of the 5th finger	3481	IGF2	OMIM:180860
HP:0004225	Abnormality of the distal phalanx of the 5th finger	90459	ERI1	OMIM:620662
HP:0004225	Abnormality of the distal phalanx of the 5th finger	6598	SMARCB1	OMIM:614608
HP:0004225	Abnormality of the distal phalanx of the 5th finger	4882	NPR2	OMIM:615923
HP:0004225	Abnormality of the distal phalanx of the 5th finger	92482	BBIP1	ORPHA:110
HP:0004225	Abnormality of the distal phalanx of the 5th finger	80184	CEP290	ORPHA:110
HP:0004225	Abnormality of the distal phalanx of the 5th finger	11020	IFT27	ORPHA:110
HP:0004225	Abnormality of the distal phalanx of the 5th finger	582	BBS1	ORPHA:110
HP:0004225	Abnormality of the distal phalanx of the 5th finger	49855	SCAPER	ORPHA:110
HP:0004225	Abnormality of the distal phalanx of the 5th finger	4867	NPHP1	ORPHA:110
HP:0004225	Abnormality of the distal phalanx of the 5th finger	51057	WDPCP	ORPHA:110
HP:0004225	Abnormality of the distal phalanx of the 5th finger	132320	SCLT1	ORPHA:110
HP:0004225	Abnormality of the distal phalanx of the 5th finger	27241	BBS9	ORPHA:110
HP:0004225	Abnormality of the distal phalanx of the 5th finger	84984	CEP19	ORPHA:110
HP:0004225	Abnormality of the distal phalanx of the 5th finger	22954	TRIM32	ORPHA:110
HP:0004225	Abnormality of the distal phalanx of the 5th finger	54903	MKS1	ORPHA:110
HP:0004225	Abnormality of the distal phalanx of the 5th finger	79738	BBS10	ORPHA:110
HP:0004225	Abnormality of the distal phalanx of the 5th finger	123016	TTC8	ORPHA:110
HP:0004225	Abnormality of the distal phalanx of the 5th finger	26160	IFT172	ORPHA:110
HP:0004225	Abnormality of the distal phalanx of the 5th finger	583	BBS2	ORPHA:110
HP:0004225	Abnormality of the distal phalanx of the 5th finger	585	BBS4	ORPHA:110
HP:0004225	Abnormality of the distal phalanx of the 5th finger	8195	MKKS	ORPHA:110
HP:0004225	Abnormality of the distal phalanx of the 5th finger	54585	LZTFL1	ORPHA:110
HP:0004225	Abnormality of the distal phalanx of the 5th finger	55212	BBS7	ORPHA:110
HP:0004225	Abnormality of the distal phalanx of the 5th finger	166379	BBS12	ORPHA:110
HP:0004225	Abnormality of the distal phalanx of the 5th finger	10806	SDCCAG8	ORPHA:110
HP:0004225	Abnormality of the distal phalanx of the 5th finger	157657	CFAP418	ORPHA:110
HP:0004225	Abnormality of the distal phalanx of the 5th finger	84100	ARL6	ORPHA:110
HP:0004225	Abnormality of the distal phalanx of the 5th finger	129880	BBS5	ORPHA:110
HP:0004225	Abnormality of the distal phalanx of the 5th finger	80173	IFT74	ORPHA:110
HP:0004225	Abnormality of the distal phalanx of the 5th finger	2697	GJA1	OMIM:257850
HP:0004225	Abnormality of the distal phalanx of the 5th finger	7021	TFAP2B	OMIM:169100
HP:0001050	Plethora	10019	SH2B3	OMIM:133100
HP:0001050	Plethora	3717	JAK2	OMIM:133100
HP:0001050	Plethora	2057	EPOR	OMIM:133100
HP:0001050	Plethora	79798	ARMC5	ORPHA:189427
HP:0001050	Plethora	23028	KDM1A	ORPHA:189427
HP:0001050	Plethora	2778	GNAS	ORPHA:189427
HP:0001050	Plethora	84196	USP48	ORPHA:96253
HP:0001050	Plethora	7157	TP53	ORPHA:96253
HP:0001050	Plethora	9101	USP8	ORPHA:96253
HP:0001050	Plethora	64072	CDH23	ORPHA:96253
HP:0001050	Plethora	2908	NR3C1	ORPHA:96253
HP:0001050	Plethora	673	BRAF	ORPHA:96253
HP:0001050	Plethora	546	ATRX	ORPHA:96253
HP:0001050	Plethora	7428	VHL	OMIM:263400
HP:0001051	Seborrheic dermatitis	5290	PIK3CA	ORPHA:276280
HP:0001051	Seborrheic dermatitis	6578	SLCO2A1	OMIM:614441
HP:0001051	Seborrheic dermatitis	6578	SLCO2A1	OMIM:167100
HP:0001051	Seborrheic dermatitis	6578	SLCO2A1	ORPHA:2796
HP:0001051	Seborrheic dermatitis	7922	SLC39A7	OMIM:619693
HP:0001051	Seborrheic dermatitis	686	BTD	OMIM:253260
HP:0001051	Seborrheic dermatitis	79755	ZNF750	OMIM:610227
HP:0001051	Seborrheic dermatitis	64087	MCCC2	OMIM:210210
HP:0001051	Seborrheic dermatitis	9939	RBM8A	OMIM:274000
HP:0001051	Seborrheic dermatitis	3248	HPGD	OMIM:259100
HP:0001051	Seborrheic dermatitis	3248	HPGD	ORPHA:2796
HP:0001051	Seborrheic dermatitis	1312	COMT	ORPHA:567
HP:0001051	Seborrheic dermatitis	221037	JMJD1C	ORPHA:567
HP:0001051	Seborrheic dermatitis	2812	GP1BB	ORPHA:567
HP:0001051	Seborrheic dermatitis	6239	RREB1	ORPHA:567
HP:0001051	Seborrheic dermatitis	6899	TBX1	ORPHA:567
HP:0001051	Seborrheic dermatitis	6899	TBX1	OMIM:188400
HP:0001051	Seborrheic dermatitis	7290	HIRA	ORPHA:567
HP:0001051	Seborrheic dermatitis	9632	SEC24C	ORPHA:567
HP:0001051	Seborrheic dermatitis	7353	UFD1	ORPHA:567
HP:0001051	Seborrheic dermatitis	421	ARVCF	ORPHA:567
HP:0001051	Seborrheic dermatitis	83550	GPR101	ORPHA:963
HP:0001051	Seborrheic dermatitis	9049	AIP	ORPHA:963
HP:0001051	Seborrheic dermatitis	11322	TMC6	ORPHA:302
HP:0001051	Seborrheic dermatitis	3574	IL7	ORPHA:302
HP:0001051	Seborrheic dermatitis	147138	TMC8	ORPHA:302
HP:0001051	Seborrheic dermatitis	10519	CIB1	ORPHA:302
HP:0001051	Seborrheic dermatitis	5277	PIGA	OMIM:300868
HP:0001051	Seborrheic dermatitis	5277	PIGA	OMIM:301072
HP:0001051	Seborrheic dermatitis	146206	CARMIL2	OMIM:618131
HP:0001051	Seborrheic dermatitis	10758	TRAF3IP2	OMIM:615527
HP:0001051	Seborrheic dermatitis	7086	TKT	ORPHA:488618
HP:0001051	Seborrheic dermatitis	727	C5	OMIM:609536
HP:0001052	Nevus flammeus	4920	ROR2	OMIM:268310
HP:0001052	Nevus flammeus	4920	ROR2	ORPHA:1507
HP:0001052	Nevus flammeus	22827	PUF60	ORPHA:508498
HP:0001052	Nevus flammeus	80267	EDEM3	OMIM:619493
HP:0001052	Nevus flammeus	1028	CDKN1C	OMIM:130650
HP:0001052	Nevus flammeus	3481	IGF2	OMIM:130650
HP:0001052	Nevus flammeus	3481	IGF2	ORPHA:231140
HP:0001052	Nevus flammeus	3784	KCNQ1	OMIM:130650
HP:0001052	Nevus flammeus	10984	KCNQ1OT1	OMIM:130650
HP:0001052	Nevus flammeus	5290	PIK3CA	ORPHA:60040
HP:0001052	Nevus flammeus	5290	PIK3CA	ORPHA:168984
HP:0001052	Nevus flammeus	91754	NEK9	ORPHA:64754
HP:0001052	Nevus flammeus	6804	STX1A	ORPHA:904
HP:0001052	Nevus flammeus	7461	CLIP2	ORPHA:904
HP:0001052	Nevus flammeus	84277	DNAJC30	ORPHA:904
HP:0001052	Nevus flammeus	8468	FKBP6	ORPHA:904
HP:0001052	Nevus flammeus	5982	RFC2	ORPHA:904
HP:0001052	Nevus flammeus	2969	GTF2I	ORPHA:904
HP:0001052	Nevus flammeus	3984	LIMK1	ORPHA:904
HP:0001052	Nevus flammeus	9569	GTF2IRD1	ORPHA:904
HP:0001052	Nevus flammeus	155382	VPS37D	ORPHA:904
HP:0001052	Nevus flammeus	155368	METTL27	ORPHA:904
HP:0001052	Nevus flammeus	114049	BUD23	ORPHA:904
HP:0001052	Nevus flammeus	7458	EIF4H	ORPHA:904
HP:0001052	Nevus flammeus	84163	GTF2IRD2	ORPHA:904
HP:0001052	Nevus flammeus	26608	TBL2	ORPHA:904
HP:0001052	Nevus flammeus	653361	NCF1	ORPHA:904
HP:0001052	Nevus flammeus	135886	TMEM270	ORPHA:904
HP:0001052	Nevus flammeus	9031	BAZ1B	ORPHA:904
HP:0001052	Nevus flammeus	2006	ELN	ORPHA:904
HP:0001052	Nevus flammeus	2260	FGFR1	ORPHA:2396
HP:0001052	Nevus flammeus	3845	KRAS	ORPHA:2396
HP:0001052	Nevus flammeus	64359	NXN	ORPHA:1507
HP:0001052	Nevus flammeus	2776	GNAQ	OMIM:163000
HP:0001052	Nevus flammeus	2776	GNAQ	ORPHA:624
HP:0001052	Nevus flammeus	7474	WNT5A	OMIM:180700
HP:0001052	Nevus flammeus	1855	DVL1	OMIM:180700
HP:0001052	Nevus flammeus	283120	H19	ORPHA:231140
HP:0001052	Nevus flammeus	171023	ASXL1	ORPHA:97297
HP:0001052	Nevus flammeus	171023	ASXL1	OMIM:605039
HP:0001052	Nevus flammeus	1836	SLC26A2	OMIM:222600
HP:0001052	Nevus flammeus	7043	TGFB3	OMIM:615582
HP:0001052	Nevus flammeus	26040	SETBP1	OMIM:616078
HP:0001052	Nevus flammeus	4591	TRIM37	OMIM:253250
HP:0001052	Nevus flammeus	171546	SPTSSA	OMIM:620416
HP:0001052	Nevus flammeus	9126	SMC3	OMIM:610759
HP:0001052	Nevus flammeus	55252	ASXL2	OMIM:617190
HP:0001052	Nevus flammeus	81857	MED25	ORPHA:464738
HP:0001052	Nevus flammeus	81857	MED25	OMIM:616449
HP:0001052	Nevus flammeus	3930	LBR	OMIM:618019
HP:0001052	Nevus flammeus	118924	FRA10AC1	OMIM:620113
HP:0001052	Nevus flammeus	9939	RBM8A	ORPHA:3320
HP:0001052	Nevus flammeus	9939	RBM8A	OMIM:274000
HP:0001052	Nevus flammeus	5354	PLP1	ORPHA:280229
HP:0001052	Nevus flammeus	8621	CDK13	OMIM:617360
HP:0001052	Nevus flammeus	8558	CDK10	OMIM:617694
HP:0001052	Nevus flammeus	1857	DVL3	ORPHA:3107
HP:0001052	Nevus flammeus	2535	FZD2	ORPHA:3107
HP:0001052	Nevus flammeus	129563	DIS3L2	ORPHA:2849
HP:0001053	Hypopigmented skin patches	57167	SALL4	ORPHA:233
HP:0001053	Hypopigmented skin patches	9935	MAFB	ORPHA:233
HP:0001053	Hypopigmented skin patches	1123	CHN1	ORPHA:233
HP:0001053	Hypopigmented skin patches	4254	KITLG	OMIM:145250
HP:0001053	Hypopigmented skin patches	4254	KITLG	ORPHA:895
HP:0001053	Hypopigmented skin patches	2261	FGFR3	ORPHA:53271
HP:0001053	Hypopigmented skin patches	6660	SOX5	ORPHA:626
HP:0001053	Hypopigmented skin patches	238	ALK	ORPHA:626
HP:0001053	Hypopigmented skin patches	9839	ZEB2	ORPHA:626
HP:0001053	Hypopigmented skin patches	4893	NRAS	ORPHA:626
HP:0001053	Hypopigmented skin patches	673	BRAF	ORPHA:626
HP:0001053	Hypopigmented skin patches	5894	RAF1	ORPHA:626
HP:0001053	Hypopigmented skin patches	1235	CCR6	ORPHA:220402
HP:0001053	Hypopigmented skin patches	79932	KIAA0319L	ORPHA:220402
HP:0001053	Hypopigmented skin patches	1490	CCN2	ORPHA:220402
HP:0001053	Hypopigmented skin patches	3663	IRF5	ORPHA:220402
HP:0001053	Hypopigmented skin patches	857	CAV1	ORPHA:220402
HP:0001053	Hypopigmented skin patches	3123	HLA-DRB1	ORPHA:220402
HP:0001053	Hypopigmented skin patches	11322	TMC6	ORPHA:302
HP:0001053	Hypopigmented skin patches	3574	IL7	ORPHA:302
HP:0001053	Hypopigmented skin patches	147138	TMC8	ORPHA:302
HP:0001053	Hypopigmented skin patches	10519	CIB1	ORPHA:302
HP:0001053	Hypopigmented skin patches	6925	TCF4	ORPHA:2896
HP:0001053	Hypopigmented skin patches	8517	IKBKG	ORPHA:464
HP:0001053	Hypopigmented skin patches	6663	SOX10	OMIM:613266
HP:0001053	Hypopigmented skin patches	6663	SOX10	OMIM:609136
HP:0001053	Hypopigmented skin patches	6663	SOX10	ORPHA:895
HP:0001053	Hypopigmented skin patches	6663	SOX10	ORPHA:163746
HP:0001053	Hypopigmented skin patches	6663	SOX10	OMIM:611584
HP:0001053	Hypopigmented skin patches	1908	EDN3	OMIM:613265
HP:0001053	Hypopigmented skin patches	6608	SMO	ORPHA:1553
HP:0001053	Hypopigmented skin patches	1910	EDNRB	OMIM:277580
HP:0001053	Hypopigmented skin patches	1910	EDNRB	ORPHA:895
HP:0001053	Hypopigmented skin patches	326	AIRE	ORPHA:3453
HP:0001053	Hypopigmented skin patches	6591	SNAI2	ORPHA:2884
HP:0001053	Hypopigmented skin patches	6591	SNAI2	ORPHA:895
HP:0001053	Hypopigmented skin patches	3815	KIT	ORPHA:2884
HP:0001053	Hypopigmented skin patches	695	BTK	ORPHA:47
HP:0001053	Hypopigmented skin patches	4286	MITF	ORPHA:895
HP:0001053	Hypopigmented skin patches	7299	TYR	ORPHA:895
HP:0001053	Hypopigmented skin patches	5077	PAX3	ORPHA:894
HP:0001053	Hypopigmented skin patches	5077	PAX3	OMIM:148820
HP:0001053	Hypopigmented skin patches	340024	SLC6A19	ORPHA:2116
HP:0001053	Hypopigmented skin patches	57393	CLTRN	ORPHA:2116
HP:0001053	Hypopigmented skin patches	5116	PCNT	ORPHA:2637
HP:0001053	Hypopigmented skin patches	2263	FGFR2	ORPHA:207
HP:0001053	Hypopigmented skin patches	2077	ERF	ORPHA:207
HP:0001053	Hypopigmented skin patches	2581	GALC	ORPHA:206436
HP:0001053	Hypopigmented skin patches	5660	PSAP	ORPHA:206436
HP:0001053	Hypopigmented skin patches	672	BRCA1	ORPHA:84
HP:0001053	Hypopigmented skin patches	10459	MAD2L2	ORPHA:84
HP:0001053	Hypopigmented skin patches	7516	XRCC2	ORPHA:84
HP:0001053	Hypopigmented skin patches	29089	UBE2T	ORPHA:84
HP:0001053	Hypopigmented skin patches	675	BRCA2	ORPHA:84
HP:0001053	Hypopigmented skin patches	55120	FANCL	ORPHA:84
HP:0001053	Hypopigmented skin patches	2177	FANCD2	ORPHA:84
HP:0001053	Hypopigmented skin patches	2175	FANCA	ORPHA:84
HP:0001053	Hypopigmented skin patches	2187	FANCB	ORPHA:84
HP:0001053	Hypopigmented skin patches	2176	FANCC	ORPHA:84
HP:0001053	Hypopigmented skin patches	2178	FANCE	ORPHA:84
HP:0001053	Hypopigmented skin patches	2188	FANCF	ORPHA:84
HP:0001053	Hypopigmented skin patches	2189	FANCG	ORPHA:84
HP:0001053	Hypopigmented skin patches	5888	RAD51	ORPHA:84
HP:0001053	Hypopigmented skin patches	5889	RAD51C	ORPHA:84
HP:0001053	Hypopigmented skin patches	55159	RFWD3	ORPHA:84
HP:0001053	Hypopigmented skin patches	83990	BRIP1	ORPHA:84
HP:0001053	Hypopigmented skin patches	57697	FANCM	ORPHA:84
HP:0001053	Hypopigmented skin patches	79728	PALB2	ORPHA:84
HP:0001053	Hypopigmented skin patches	84464	SLX4	ORPHA:84
HP:0001053	Hypopigmented skin patches	2072	ERCC4	ORPHA:84
HP:0001053	Hypopigmented skin patches	2072	ERCC4	ORPHA:910
HP:0001053	Hypopigmented skin patches	55215	FANCI	ORPHA:84
HP:0001053	Hypopigmented skin patches	1312	COMT	ORPHA:567
HP:0001053	Hypopigmented skin patches	221037	JMJD1C	ORPHA:567
HP:0001053	Hypopigmented skin patches	2812	GP1BB	ORPHA:567
HP:0001053	Hypopigmented skin patches	6239	RREB1	ORPHA:567
HP:0001053	Hypopigmented skin patches	6899	TBX1	ORPHA:567
HP:0001053	Hypopigmented skin patches	7290	HIRA	ORPHA:567
HP:0001053	Hypopigmented skin patches	9632	SEC24C	ORPHA:567
HP:0001053	Hypopigmented skin patches	7353	UFD1	ORPHA:567
HP:0001053	Hypopigmented skin patches	421	ARVCF	ORPHA:567
HP:0001053	Hypopigmented skin patches	54539	NDUFB11	ORPHA:2556
HP:0001053	Hypopigmented skin patches	1349	COX7B	ORPHA:2556
HP:0001053	Hypopigmented skin patches	3052	HCCS	ORPHA:2556
HP:0001053	Hypopigmented skin patches	10483	SEC23B	ORPHA:201
HP:0001053	Hypopigmented skin patches	5728	PTEN	ORPHA:201
HP:0001053	Hypopigmented skin patches	6390	SDHB	ORPHA:201
HP:0001053	Hypopigmented skin patches	6392	SDHD	ORPHA:201
HP:0001053	Hypopigmented skin patches	6391	SDHC	ORPHA:201
HP:0001053	Hypopigmented skin patches	207	AKT1	ORPHA:201
HP:0001053	Hypopigmented skin patches	205717	USF3	ORPHA:201
HP:0001053	Hypopigmented skin patches	5290	PIK3CA	ORPHA:201
HP:0001053	Hypopigmented skin patches	100144748	KLLN	ORPHA:201
HP:0001053	Hypopigmented skin patches	117581	TWIST2	ORPHA:1807
HP:0001053	Hypopigmented skin patches	10058	ABCB6	ORPHA:241
HP:0001053	Hypopigmented skin patches	80169	CTC1	ORPHA:1775
HP:0001053	Hypopigmented skin patches	26277	TINF2	ORPHA:1775
HP:0001053	Hypopigmented skin patches	55651	NHP2	ORPHA:1775
HP:0001053	Hypopigmented skin patches	79650	USB1	ORPHA:1775
HP:0001053	Hypopigmented skin patches	55135	WRAP53	ORPHA:1775
HP:0001053	Hypopigmented skin patches	51750	RTEL1	ORPHA:1775
HP:0001053	Hypopigmented skin patches	4869	NPM1	ORPHA:1775
HP:0001053	Hypopigmented skin patches	7012	TERC	ORPHA:1775
HP:0001053	Hypopigmented skin patches	55505	NOP10	ORPHA:1775
HP:0001053	Hypopigmented skin patches	5073	PARN	ORPHA:1775
HP:0001053	Hypopigmented skin patches	7015	TERT	ORPHA:1775
HP:0001053	Hypopigmented skin patches	1736	DKC1	ORPHA:1775
HP:0001053	Hypopigmented skin patches	7298	TYMS	ORPHA:1775
HP:0001053	Hypopigmented skin patches	355	FAS	ORPHA:3437
HP:0001053	Hypopigmented skin patches	26191	PTPN22	ORPHA:3437
HP:0001053	Hypopigmented skin patches	2475	MTOR	ORPHA:457485
HP:0001053	Hypopigmented skin patches	84168	ANTXR1	ORPHA:2067
HP:0001053	Hypopigmented skin patches	1493	CTLA4	ORPHA:2584
HP:0001053	Hypopigmented skin patches	940	CD28	ORPHA:2584
HP:0001053	Hypopigmented skin patches	7133	TNFRSF1B	ORPHA:2584
HP:0001053	Hypopigmented skin patches	2068	ERCC2	ORPHA:910
HP:0001053	Hypopigmented skin patches	7507	XPA	ORPHA:910
HP:0001053	Hypopigmented skin patches	2071	ERCC3	ORPHA:910
HP:0001053	Hypopigmented skin patches	7508	XPC	ORPHA:910
HP:0001053	Hypopigmented skin patches	1643	DDB2	ORPHA:910
HP:0001053	Hypopigmented skin patches	2073	ERCC5	ORPHA:910
HP:0001053	Hypopigmented skin patches	1075	CTSC	ORPHA:678
HP:0001053	Hypopigmented skin patches	10682	EBP	ORPHA:401973
HP:0001053	Hypopigmented skin patches	10682	EBP	OMIM:300960
HP:0001053	Hypopigmented skin patches	7319	UBE2A	OMIM:300860
HP:0001053	Hypopigmented skin patches	641	BLM	OMIM:210900
HP:0001053	Hypopigmented skin patches	55612	FERMT1	OMIM:173650
HP:0001053	Hypopigmented skin patches	9419	CRIPT	OMIM:615789
HP:0001053	Hypopigmented skin patches	3852	KRT5	ORPHA:79397
HP:0001053	Hypopigmented skin patches	3852	KRT5	ORPHA:79399
HP:0001053	Hypopigmented skin patches	3861	KRT14	ORPHA:79397
HP:0001053	Hypopigmented skin patches	3861	KRT14	ORPHA:79399
HP:0001053	Hypopigmented skin patches	10060	ABCC9	OMIM:619719
HP:0001053	Hypopigmented skin patches	54	ACP5	OMIM:607944
HP:0001054	Numerous nevi	7703	PCGF2	OMIM:618371
HP:0001054	Numerous nevi	284058	KANSL1	ORPHA:363965
HP:0001054	Numerous nevi	284058	KANSL1	ORPHA:363958
HP:0001054	Numerous nevi	5728	PTEN	ORPHA:210548
HP:0001054	Numerous nevi	220296	HEPACAM	ORPHA:210548
HP:0001054	Numerous nevi	673	BRAF	OMIM:155600
HP:0001054	Numerous nevi	673	BRAF	OMIM:115150
HP:0001054	Numerous nevi	673	BRAF	OMIM:613707
HP:0001054	Numerous nevi	673	BRAF	OMIM:613706
HP:0001054	Numerous nevi	6794	STK11	OMIM:155600
HP:0001054	Numerous nevi	1019	CDK4	OMIM:609048
HP:0001054	Numerous nevi	4893	NRAS	OMIM:162900
HP:0001054	Numerous nevi	2261	FGFR3	OMIM:162900
HP:0001054	Numerous nevi	3265	HRAS	OMIM:162900
HP:0001054	Numerous nevi	5290	PIK3CA	OMIM:162900
HP:0001055	Erysipelas	4210	MEFV	ORPHA:342
HP:0001055	Erysipelas	4210	MEFV	OMIM:249100
HP:0001055	Erysipelas	4210	MEFV	OMIM:134610
HP:0001055	Erysipelas	3832	KIF11	ORPHA:2526
HP:0001055	Erysipelas	9508	ADAMTS3	ORPHA:2136
HP:0001055	Erysipelas	147372	CCBE1	ORPHA:2136
HP:0001055	Erysipelas	147372	CCBE1	OMIM:235510
HP:0001055	Erysipelas	79633	FAT4	ORPHA:2136
HP:0001055	Erysipelas	7132	TNFRSF1A	OMIM:142680
HP:0001055	Erysipelas	7132	TNFRSF1A	ORPHA:32960
HP:0001055	Erysipelas	2324	FLT4	ORPHA:79452
HP:0001055	Erysipelas	9780	PIEZO1	ORPHA:79452
HP:0001055	Erysipelas	285	ANGPT2	ORPHA:79452
HP:0001055	Erysipelas	57165	GJC2	ORPHA:79452
HP:0001055	Erysipelas	374393	FAM111B	OMIM:615704
HP:0001056	Milia	3861	KRT14	ORPHA:89838
HP:0001056	Milia	3861	KRT14	OMIM:131760
HP:0001056	Milia	3861	KRT14	ORPHA:79400
HP:0001056	Milia	3861	KRT14	ORPHA:69087
HP:0001056	Milia	3861	KRT14	OMIM:131900
HP:0001056	Milia	3861	KRT14	OMIM:131800
HP:0001056	Milia	3861	KRT14	ORPHA:79396
HP:0001056	Milia	3861	KRT14	ORPHA:79397
HP:0001056	Milia	3861	KRT14	ORPHA:79399
HP:0001056	Milia	55612	FERMT1	ORPHA:2908
HP:0001056	Milia	3691	ITGB4	OMIM:226730
HP:0001056	Milia	3691	ITGB4	ORPHA:158684
HP:0001056	Milia	3691	ITGB4	ORPHA:79402
HP:0001056	Milia	3691	ITGB4	ORPHA:251393
HP:0001056	Milia	5339	PLEC	OMIM:226730
HP:0001056	Milia	5339	PLEC	OMIM:226670
HP:0001056	Milia	5339	PLEC	ORPHA:158684
HP:0001056	Milia	3852	KRT5	OMIM:131760
HP:0001056	Milia	3852	KRT5	ORPHA:79400
HP:0001056	Milia	3852	KRT5	ORPHA:79396
HP:0001056	Milia	3852	KRT5	ORPHA:79397
HP:0001056	Milia	3852	KRT5	ORPHA:79399
HP:0001056	Milia	8481	OFD1	ORPHA:2750
HP:0001056	Milia	8481	OFD1	OMIM:311200
HP:0001056	Milia	56916	SMARCAD1	OMIM:129200
HP:0001056	Milia	56916	SMARCAD1	ORPHA:1658
HP:0001056	Milia	5498	PPOX	OMIM:620483
HP:0001056	Milia	5498	PPOX	ORPHA:79473
HP:0001056	Milia	1540	CYLD	OMIM:605041
HP:0001056	Milia	3909	LAMA3	ORPHA:79402
HP:0001056	Milia	3909	LAMA3	OMIM:226700
HP:0001056	Milia	1308	COL17A1	ORPHA:79402
HP:0001056	Milia	1308	COL17A1	ORPHA:79406
HP:0001056	Milia	1308	COL17A1	ORPHA:251393
HP:0001056	Milia	3918	LAMC2	ORPHA:79402
HP:0001056	Milia	3918	LAMC2	OMIM:226700
HP:0001056	Milia	3914	LAMB3	ORPHA:79402
HP:0001056	Milia	3914	LAMB3	OMIM:226700
HP:0001056	Milia	1294	COL7A1	OMIM:604129
HP:0001056	Milia	1294	COL7A1	ORPHA:79408
HP:0001056	Milia	1294	COL7A1	ORPHA:79409
HP:0001056	Milia	1294	COL7A1	OMIM:226600
HP:0001056	Milia	1294	COL7A1	ORPHA:231568
HP:0001056	Milia	1294	COL7A1	ORPHA:89842
HP:0001056	Milia	1294	COL7A1	ORPHA:158673
HP:0001056	Milia	1294	COL7A1	ORPHA:89843
HP:0001056	Milia	1294	COL7A1	OMIM:131750
HP:0001056	Milia	1294	COL7A1	OMIM:131705
HP:0001056	Milia	1294	COL7A1	ORPHA:79410
HP:0001056	Milia	1294	COL7A1	ORPHA:79411
HP:0001056	Milia	4312	MMP1	ORPHA:79408
HP:0001056	Milia	3977	LIFR	OMIM:601559
HP:0001056	Milia	5727	PTCH1	OMIM:109400
HP:0001057	Aplasia cutis congenita	285203	EOGT	OMIM:615297
HP:0001057	Aplasia cutis congenita	285203	EOGT	ORPHA:974
HP:0001057	Aplasia cutis congenita	5339	PLEC	ORPHA:158684
HP:0001057	Aplasia cutis congenita	5339	PLEC	ORPHA:1114
HP:0001057	Aplasia cutis congenita	5339	PLEC	OMIM:612138
HP:0001057	Aplasia cutis congenita	3691	ITGB4	ORPHA:158684
HP:0001057	Aplasia cutis congenita	3691	ITGB4	ORPHA:79402
HP:0001057	Aplasia cutis congenita	3691	ITGB4	ORPHA:79403
HP:0001057	Aplasia cutis congenita	3691	ITGB4	ORPHA:1114
HP:0001057	Aplasia cutis congenita	3691	ITGB4	ORPHA:251393
HP:0001057	Aplasia cutis congenita	4851	NOTCH1	OMIM:616028
HP:0001057	Aplasia cutis congenita	4851	NOTCH1	ORPHA:974
HP:0001057	Aplasia cutis congenita	3909	LAMA3	ORPHA:79402
HP:0001057	Aplasia cutis congenita	3909	LAMA3	ORPHA:79404
HP:0001057	Aplasia cutis congenita	1308	COL17A1	ORPHA:79402
HP:0001057	Aplasia cutis congenita	1308	COL17A1	ORPHA:251393
HP:0001057	Aplasia cutis congenita	3918	LAMC2	ORPHA:79402
HP:0001057	Aplasia cutis congenita	3918	LAMC2	ORPHA:79404
HP:0001057	Aplasia cutis congenita	3914	LAMB3	ORPHA:79402
HP:0001057	Aplasia cutis congenita	3914	LAMB3	ORPHA:79404
HP:0001057	Aplasia cutis congenita	3655	ITGA6	ORPHA:79403
HP:0001057	Aplasia cutis congenita	7020	TFAP2A	OMIM:113620
HP:0001057	Aplasia cutis congenita	284252	KCTD1	OMIM:181270
HP:0001057	Aplasia cutis congenita	4312	MMP1	ORPHA:79408
HP:0001057	Aplasia cutis congenita	1294	COL7A1	ORPHA:79408
HP:0001057	Aplasia cutis congenita	1294	COL7A1	ORPHA:89842
HP:0001057	Aplasia cutis congenita	1294	COL7A1	ORPHA:79411
HP:0001057	Aplasia cutis congenita	1832	DSP	OMIM:609638
HP:0001057	Aplasia cutis congenita	3845	KRAS	OMIM:600268
HP:0001057	Aplasia cutis congenita	1349	COX7B	OMIM:300887
HP:0001057	Aplasia cutis congenita	6872	TAF1	OMIM:300966
HP:0001057	Aplasia cutis congenita	7543	ZFX	OMIM:301118
HP:0001057	Aplasia cutis congenita	3313	HSPA9	OMIM:616854
HP:0001057	Aplasia cutis congenita	9790	BMS1	ORPHA:1114
HP:0001057	Aplasia cutis congenita	10054	UBA2	ORPHA:1114
HP:0001057	Aplasia cutis congenita	54567	DLL4	ORPHA:1114
HP:0001057	Aplasia cutis congenita	54567	DLL4	ORPHA:974
HP:0001057	Aplasia cutis congenita	3852	KRT5	ORPHA:79396
HP:0001057	Aplasia cutis congenita	3861	KRT14	ORPHA:79396
HP:0001057	Aplasia cutis congenita	57572	DOCK6	OMIM:614219
HP:0001057	Aplasia cutis congenita	57572	DOCK6	ORPHA:974
HP:0001057	Aplasia cutis congenita	3516	RBPJ	OMIM:614814
HP:0001057	Aplasia cutis congenita	3516	RBPJ	ORPHA:974
HP:0001057	Aplasia cutis congenita	57514	ARHGAP31	ORPHA:974
HP:0001057	Aplasia cutis congenita	526	ATP6V1B2	ORPHA:79499
HP:0001057	Aplasia cutis congenita	55784	MCTP2	ORPHA:1596
HP:0001057	Aplasia cutis congenita	999	CDH1	OMIM:119580
HP:0001057	Aplasia cutis congenita	79796	ALG9	ORPHA:79328
HP:0001057	Aplasia cutis congenita	197131	UBR1	OMIM:243800
HP:0001057	Aplasia cutis congenita	10815	CPLX1	ORPHA:280
HP:0001057	Aplasia cutis congenita	10815	CPLX1	OMIM:194190
HP:0001057	Aplasia cutis congenita	54872	PIGG	ORPHA:280
HP:0001057	Aplasia cutis congenita	7469	NELFA	ORPHA:280
HP:0001057	Aplasia cutis congenita	1487	CTBP1	ORPHA:280
HP:0001057	Aplasia cutis congenita	1487	CTBP1	OMIM:194190
HP:0001057	Aplasia cutis congenita	3954	LETM1	ORPHA:280
HP:0001057	Aplasia cutis congenita	3954	LETM1	OMIM:194190
HP:0001057	Aplasia cutis congenita	7468	NSD2	ORPHA:280
HP:0001057	Aplasia cutis congenita	7468	NSD2	OMIM:194190
HP:0001057	Aplasia cutis congenita	4488	MSX2	ORPHA:60015
HP:0001057	Aplasia cutis congenita	4488	MSX2	OMIM:168500
HP:0001057	Aplasia cutis congenita	60529	ALX4	ORPHA:60015
HP:0001057	Aplasia cutis congenita	60529	ALX4	OMIM:609597
HP:0001057	Aplasia cutis congenita	2355	FOSL2	OMIM:620789
HP:0001057	Aplasia cutis congenita	53834	FGFRL1	OMIM:194190
HP:0001058	Poor wound healing	2165	F13B	ORPHA:331
HP:0001058	Poor wound healing	2162	F13A1	ORPHA:331
HP:0001058	Poor wound healing	5880	RAC2	ORPHA:183707
HP:0001058	Poor wound healing	5880	RAC2	OMIM:608203
HP:0001058	Poor wound healing	3689	ITGB2	OMIM:116920
HP:0001058	Poor wound healing	84196	USP48	ORPHA:96253
HP:0001058	Poor wound healing	7157	TP53	ORPHA:96253
HP:0001058	Poor wound healing	9101	USP8	ORPHA:96253
HP:0001058	Poor wound healing	9101	USP8	OMIM:219090
HP:0001058	Poor wound healing	64072	CDH23	ORPHA:96253
HP:0001058	Poor wound healing	2908	NR3C1	ORPHA:96253
HP:0001058	Poor wound healing	673	BRAF	ORPHA:96253
HP:0001058	Poor wound healing	673	BRAF	ORPHA:626
HP:0001058	Poor wound healing	546	ATRX	ORPHA:96253
HP:0001058	Poor wound healing	1277	COL1A1	OMIM:619115
HP:0001058	Poor wound healing	1277	COL1A1	ORPHA:287
HP:0001058	Poor wound healing	1277	COL1A1	OMIM:130060
HP:0001058	Poor wound healing	5351	PLOD1	OMIM:225400
HP:0001058	Poor wound healing	5351	PLOD1	ORPHA:1900
HP:0001058	Poor wound healing	2629	GBA1	ORPHA:2072
HP:0001058	Poor wound healing	165	AEBP1	OMIM:618000
HP:0001058	Poor wound healing	4803	NGF	ORPHA:64752
HP:0001058	Poor wound healing	4914	NTRK1	ORPHA:64752
HP:0001058	Poor wound healing	4914	NTRK1	OMIM:256800
HP:0001058	Poor wound healing	2157	F8	ORPHA:169802
HP:0001058	Poor wound healing	6660	SOX5	ORPHA:626
HP:0001058	Poor wound healing	238	ALK	ORPHA:626
HP:0001058	Poor wound healing	9839	ZEB2	ORPHA:626
HP:0001058	Poor wound healing	4893	NRAS	ORPHA:626
HP:0001058	Poor wound healing	5894	RAF1	ORPHA:626
HP:0001058	Poor wound healing	4000	LMNA	OMIM:212112
HP:0001058	Poor wound healing	10092	ARPC5	OMIM:620565
HP:0001058	Poor wound healing	29940	DSE	OMIM:615539
HP:0001058	Poor wound healing	2006	ELN	OMIM:123700
HP:0001058	Poor wound healing	10516	FBLN5	OMIM:219100
HP:0001058	Poor wound healing	1289	COL5A1	ORPHA:287
HP:0001058	Poor wound healing	1289	COL5A1	OMIM:130000
HP:0001058	Poor wound healing	1290	COL5A2	ORPHA:287
HP:0001058	Poor wound healing	1303	COL12A1	ORPHA:536516
HP:0001058	Poor wound healing	7148	TNXB	OMIM:606408
HP:0001058	Poor wound healing	5054	SERPINE1	ORPHA:465
HP:0001058	Poor wound healing	715	C1R	OMIM:130080
HP:0001058	Poor wound healing	9509	ADAMTS2	OMIM:225410
HP:0001058	Poor wound healing	633	BGN	OMIM:300989
HP:0001058	Poor wound healing	1278	COL1A2	ORPHA:230851
HP:0001058	Poor wound healing	1278	COL1A2	OMIM:619120
HP:0001058	Poor wound healing	4921	DDR2	OMIM:618175
HP:0001058	Poor wound healing	3075	CFH	ORPHA:244242
HP:0001058	Poor wound healing	3426	CFI	ORPHA:244242
HP:0001058	Poor wound healing	4179	CD46	ORPHA:244242
HP:0001058	Poor wound healing	101101692	HELLPAR	ORPHA:244242
HP:0001058	Poor wound healing	11280	SCN11A	OMIM:615548
HP:0001058	Poor wound healing	9049	AIP	OMIM:219090
HP:0001058	Poor wound healing	2697	GJA1	ORPHA:1010
HP:0001058	Poor wound healing	9731	CEP104	OMIM:619988
HP:0001058	Poor wound healing	29927	SEC61A1	OMIM:620674
HP:0001058	Poor wound healing	91039	DPP9	OMIM:620331
HP:0001058	Poor wound healing	10558	SPTLC1	ORPHA:36386
HP:0001058	Poor wound healing	25923	ATL3	ORPHA:36386
HP:0001058	Poor wound healing	9517	SPTLC2	ORPHA:36386
HP:0001058	Poor wound healing	51062	ATL1	ORPHA:36386
HP:0001059	Pterygium	1134	CHRNA1	OMIM:253290
HP:0001059	Pterygium	1144	CHRND	OMIM:253290
HP:0001059	Pterygium	55605	KIF21A	ORPHA:994
HP:0001059	Pterygium	4927	NUP88	ORPHA:994
HP:0001059	Pterygium	7846	TUBA1A	ORPHA:994
HP:0001059	Pterygium	4654	MYOD1	ORPHA:994
HP:0001059	Pterygium	54551	MAGEL2	ORPHA:994
HP:0001059	Pterygium	4593	MUSK	ORPHA:994
HP:0001059	Pterygium	5913	RAPSN	ORPHA:994
HP:0001059	Pterygium	6572	SLC18A3	ORPHA:994
HP:0001059	Pterygium	285489	DOK7	ORPHA:994
HP:0001059	Pterygium	1146	CHRNG	OMIM:265000
HP:0001059	Pterygium	1146	CHRNG	ORPHA:2990
HP:0001059	Pterygium	3339	HSPG2	OMIM:224410
HP:0001059	Pterygium	3339	HSPG2	ORPHA:1865
HP:0001059	Pterygium	25885	POLR1A	OMIM:616462
HP:0001059	Pterygium	55505	NOP10	OMIM:224230
HP:0001059	Pterygium	55651	NHP2	OMIM:224230
HP:0001059	Pterygium	4621	MYH3	ORPHA:2990
HP:0001059	Pterygium	1736	DKC1	OMIM:305000
HP:0001059	Pterygium	5352	PLOD2	ORPHA:2771
HP:0001059	Pterygium	5352	PLOD2	OMIM:609220
HP:0001059	Pterygium	60681	FKBP10	ORPHA:2771
HP:0001059	Pterygium	60681	FKBP10	OMIM:259450
HP:0001059	Pterygium	3655	ITGA6	ORPHA:79403
HP:0001059	Pterygium	3691	ITGB4	ORPHA:79403
HP:0001059	Pterygium	4313	MMP2	ORPHA:371428
HP:0001059	Pterygium	4323	MMP14	ORPHA:371428
HP:0001059	Pterygium	57538	ALPK3	OMIM:618052
HP:0001059	Pterygium	54101	RIPK4	OMIM:263650
HP:0001059	Pterygium	55640	FLVCR2	OMIM:225790
HP:0001059	Pterygium	10082	GPC6	ORPHA:93329
HP:0001059	Pterygium	2068	ERCC2	ORPHA:910
HP:0001059	Pterygium	7507	XPA	ORPHA:910
HP:0001059	Pterygium	2071	ERCC3	ORPHA:910
HP:0001059	Pterygium	7508	XPC	ORPHA:910
HP:0001059	Pterygium	1643	DDB2	ORPHA:910
HP:0001059	Pterygium	2072	ERCC4	ORPHA:910
HP:0001059	Pterygium	2073	ERCC5	ORPHA:910
HP:0001059	Pterygium	26227	PHGDH	OMIM:256520
HP:0001059	Pterygium	1947	EFNB1	OMIM:304110
HP:0001059	Pterygium	1147	CHUK	OMIM:619339
HP:0001059	Pterygium	57211	ADGRG6	OMIM:616503
HP:0001059	Pterygium	5339	PLEC	OMIM:226730
HP:0001059	Pterygium	6874	TAF4	OMIM:620450
HP:0001059	Pterygium	5077	PAX3	OMIM:148820
HP:0001059	Pterygium	5307	PITX1	OMIM:119800
HP:0001059	Pterygium	3664	IRF6	OMIM:119500
HP:0001059	Pterygium	3664	IRF6	ORPHA:1300
HP:0001059	Pterygium	727857	BHLHA9	ORPHA:3329
HP:0001059	Pterygium	10265	IRX5	OMIM:611174
HP:0001059	Pterygium	4010	LMX1B	OMIM:161200
HP:0001059	Pterygium	4010	LMX1B	ORPHA:2614
HP:0001059	Pterygium	3481	IGF2	OMIM:616489
HP:0001059	Pterygium	9928	KIF14	OMIM:616258
HP:0004219	Abnormality of the middle phalanx of the 5th finger	4920	ROR2	OMIM:268310
HP:0004219	Abnormality of the middle phalanx of the 5th finger	4613	MYCN	ORPHA:391641
HP:0004219	Abnormality of the middle phalanx of the 5th finger	9698	PUM1	OMIM:620719
HP:0004219	Abnormality of the middle phalanx of the 5th finger	10743	RAI1	OMIM:182290
HP:0004219	Abnormality of the middle phalanx of the 5th finger	7021	TFAP2B	ORPHA:46627
HP:0004219	Abnormality of the middle phalanx of the 5th finger	3481	IGF2	OMIM:180860
HP:0004219	Abnormality of the middle phalanx of the 5th finger	51199	NIN	ORPHA:319675
HP:0004219	Abnormality of the middle phalanx of the 5th finger	51199	NIN	OMIM:614851
HP:0004219	Abnormality of the middle phalanx of the 5th finger	7474	WNT5A	OMIM:180700
HP:0004219	Abnormality of the middle phalanx of the 5th finger	1855	DVL1	OMIM:180700
HP:0004219	Abnormality of the middle phalanx of the 5th finger	9241	NOG	OMIM:186500
HP:0004219	Abnormality of the middle phalanx of the 5th finger	22827	PUF60	ORPHA:508488
HP:0004219	Abnormality of the middle phalanx of the 5th finger	6910	TBX5	OMIM:142900
HP:0004219	Abnormality of the middle phalanx of the 5th finger	3239	HOXD13	OMIM:186000
HP:0004219	Abnormality of the middle phalanx of the 5th finger	3239	HOXD13	ORPHA:93409
HP:0004219	Abnormality of the middle phalanx of the 5th finger	10847	SRCAP	OMIM:136140
HP:0004219	Abnormality of the middle phalanx of the 5th finger	2077	ERF	OMIM:617180
HP:0004219	Abnormality of the middle phalanx of the 5th finger	860	RUNX2	OMIM:119600
HP:0004219	Abnormality of the middle phalanx of the 5th finger	860	RUNX2	OMIM:156510
HP:0004219	Abnormality of the middle phalanx of the 5th finger	2783	GNB2	OMIM:619503
HP:0004219	Abnormality of the middle phalanx of the 5th finger	2697	GJA1	OMIM:164200
HP:0004219	Abnormality of the middle phalanx of the 5th finger	5932	RBBP8	OMIM:251255
HP:0004219	Abnormality of the middle phalanx of the 5th finger	658	BMPR1B	OMIM:112600
HP:0004219	Abnormality of the middle phalanx of the 5th finger	650	BMP2	OMIM:112600
HP:0004219	Abnormality of the middle phalanx of the 5th finger	8200	GDF5	OMIM:112600
HP:0004219	Abnormality of the middle phalanx of the 5th finger	727857	BHLHA9	OMIM:609432
HP:0004219	Abnormality of the middle phalanx of the 5th finger	526	ATP6V1B2	OMIM:124480
HP:0004219	Abnormality of the middle phalanx of the 5th finger	9742	IFT140	OMIM:266920
HP:0004218	Symphalangism of the 5th finger	7021	TFAP2B	ORPHA:46627
HP:0004218	Symphalangism of the 5th finger	9241	NOG	OMIM:186500
HP:0004218	Symphalangism of the 5th finger	9241	NOG	OMIM:184460
HP:0004218	Symphalangism of the 5th finger	4920	ROR2	OMIM:268310
HP:0004218	Symphalangism of the 5th finger	8200	GDF5	OMIM:615298
HP:0004218	Symphalangism of the 5th finger	727857	BHLHA9	OMIM:609432
HP:0004237	Large carpal bones	54808	DYM	ORPHA:239
HP:0004237	Large carpal bones	3417	IDH1	ORPHA:99646
HP:0004236	Irregular carpal bones	1311	COMP	ORPHA:750
HP:0004236	Irregular carpal bones	1311	COMP	OMIM:177170
HP:0004236	Irregular carpal bones	79158	GNPTAB	OMIM:252600
HP:0004236	Irregular carpal bones	9451	EIF2AK3	OMIM:226980
HP:0004233	Advanced ossification of carpal bones	84068	SLC10A7	OMIM:618363
HP:0004233	Advanced ossification of carpal bones	29072	SETD2	OMIM:616831
HP:0004233	Advanced ossification of carpal bones	5144	PDE4D	OMIM:614613
HP:0004233	Advanced ossification of carpal bones	54187	NANS	OMIM:610442
HP:0004233	Advanced ossification of carpal bones	64131	XYLT1	OMIM:615777
HP:0004233	Advanced ossification of carpal bones	347734	SLC35B2	OMIM:620269
HP:0004233	Advanced ossification of carpal bones	126792	B3GALT6	OMIM:615349
HP:0004233	Advanced ossification of carpal bones	126792	B3GALT6	OMIM:271640
HP:0004233	Advanced ossification of carpal bones	23169	SLC35D1	OMIM:269250
HP:0004233	Advanced ossification of carpal bones	124583	CANT1	OMIM:617719
HP:0004233	Advanced ossification of carpal bones	124583	CANT1	OMIM:251450
HP:0004233	Advanced ossification of carpal bones	5745	PTH1R	OMIM:215045
HP:0004232	Accessory carpal bones	2316	FLNA	OMIM:311300
HP:0004232	Accessory carpal bones	2317	FLNB	OMIM:150250
HP:0004232	Accessory carpal bones	2317	FLNB	ORPHA:503
HP:0004231	Carpal bone aplasia	9401	RECQL4	OMIM:218600
HP:0004231	Carpal bone aplasia	64327	LMBR1	OMIM:200500
HP:0004231	Carpal bone aplasia	7476	WNT7A	OMIM:276820
HP:0004231	Carpal bone aplasia	7516	XRCC2	OMIM:617247
HP:0004227	Short distal phalanx of the 5th finger	1280	COL2A1	OMIM:271700
HP:0004227	Short distal phalanx of the 5th finger	10236	HNRNPR	OMIM:620073
HP:0004227	Short distal phalanx of the 5th finger	57492	ARID1B	OMIM:135900
HP:0004227	Short distal phalanx of the 5th finger	3481	IGF2	OMIM:180860
HP:0004227	Short distal phalanx of the 5th finger	90459	ERI1	OMIM:620662
HP:0004227	Short distal phalanx of the 5th finger	6598	SMARCB1	OMIM:614608
HP:0030304	Abnormal number of vertebrae	5077	PAX3	OMIM:193500
HP:0030304	Abnormal number of vertebrae	1723	DHODH	OMIM:263750
HP:0030304	Abnormal number of vertebrae	2719	GPC3	OMIM:312870
HP:0030304	Abnormal number of vertebrae	2239	GPC4	OMIM:312870
HP:0030304	Abnormal number of vertebrae	10220	GDF11	OMIM:619122
HP:0030303	Hypoplastic anterior commissure	473	RERE	OMIM:616975
HP:0030303	Hypoplastic anterior commissure	23499	MACF1	OMIM:618325
HP:0030303	Hypoplastic anterior commissure	9839	ZEB2	ORPHA:261552
HP:0030303	Hypoplastic anterior commissure	55361	PI4K2A	OMIM:620732
HP:0030303	Hypoplastic anterior commissure	10381	TUBB3	OMIM:600638
HP:0030302	Agenesis of the anterior commissure	10381	TUBB3	ORPHA:300570
HP:0030302	Agenesis of the anterior commissure	84320	ACBD6	OMIM:620785
HP:0030301	Abnormality of the anterior commissure	1630	DCC	OMIM:617542
HP:0030301	Abnormality of the anterior commissure	23499	MACF1	ORPHA:572013
HP:0030301	Abnormality of the anterior commissure	387119	CEP85L	ORPHA:572013
HP:0030301	Abnormality of the anterior commissure	10381	TUBB3	ORPHA:300570
HP:0030301	Abnormality of the anterior commissure	84320	ACBD6	OMIM:620785
HP:0030301	Abnormality of the anterior commissure	473	RERE	OMIM:616975
HP:0030301	Abnormality of the anterior commissure	9839	ZEB2	ORPHA:261552
HP:0030301	Abnormality of the anterior commissure	55361	PI4K2A	OMIM:620732
HP:0030300	10 pairs of ribs	6628	SNRPB	OMIM:117650
HP:0001060	Axillary pterygium	10082	GPC6	OMIM:258315
HP:0001060	Axillary pterygium	1146	CHRNG	OMIM:265000
HP:0001060	Axillary pterygium	1146	CHRNG	ORPHA:2990
HP:0001060	Axillary pterygium	1947	EFNB1	OMIM:304110
HP:0001060	Axillary pterygium	1147	CHUK	OMIM:619339
HP:0001060	Axillary pterygium	57211	ADGRG6	OMIM:616503
HP:0001060	Axillary pterygium	4621	MYH3	ORPHA:2990
HP:0001060	Axillary pterygium	3691	ITGB4	OMIM:226730
HP:0001060	Axillary pterygium	5339	PLEC	OMIM:226730
HP:0001060	Axillary pterygium	54101	RIPK4	OMIM:263650
HP:0001060	Axillary pterygium	6874	TAF4	OMIM:620450
HP:0001060	Axillary pterygium	5077	PAX3	OMIM:148820
HP:0001061	Acne	9563	H6PD	OMIM:604931
HP:0001061	Acne	1893	ECM1	ORPHA:530
HP:0001061	Acne	9051	PSTPIP1	OMIM:604416
HP:0001061	Acne	9051	PSTPIP1	ORPHA:69126
HP:0001061	Acne	9663	LPIN2	ORPHA:77297
HP:0001061	Acne	84196	USP48	ORPHA:96253
HP:0001061	Acne	7157	TP53	ORPHA:96253
HP:0001061	Acne	9101	USP8	ORPHA:96253
HP:0001061	Acne	64072	CDH23	ORPHA:96253
HP:0001061	Acne	2908	NR3C1	ORPHA:96253
HP:0001061	Acne	2908	NR3C1	ORPHA:786
HP:0001061	Acne	673	BRAF	ORPHA:96253
HP:0001061	Acne	546	ATRX	ORPHA:96253
HP:0001061	Acne	6578	SLCO2A1	OMIM:614441
HP:0001061	Acne	6578	SLCO2A1	OMIM:167100
HP:0001061	Acne	6578	SLCO2A1	ORPHA:2796
HP:0001061	Acne	331	XIAP	OMIM:300635
HP:0001061	Acne	5566	PRKACA	OMIM:615830
HP:0001061	Acne	54361	WNT4	ORPHA:247768
HP:0001061	Acne	54361	WNT4	OMIM:158330
HP:0001061	Acne	285590	SH3PXD2B	ORPHA:137834
HP:0001061	Acne	285590	SH3PXD2B	OMIM:249420
HP:0001061	Acne	3973	LHCGR	ORPHA:3000
HP:0001061	Acne	4210	MEFV	ORPHA:3243
HP:0001061	Acne	4210	MEFV	ORPHA:117
HP:0001061	Acne	5777	PTPN6	ORPHA:3243
HP:0001061	Acne	9060	PAPSS2	OMIM:612847
HP:0001061	Acne	1312	COMT	ORPHA:567
HP:0001061	Acne	221037	JMJD1C	ORPHA:567
HP:0001061	Acne	2812	GP1BB	ORPHA:567
HP:0001061	Acne	6239	RREB1	ORPHA:567
HP:0001061	Acne	6899	TBX1	ORPHA:567
HP:0001061	Acne	6899	TBX1	OMIM:188400
HP:0001061	Acne	7290	HIRA	ORPHA:567
HP:0001061	Acne	9632	SEC24C	ORPHA:567
HP:0001061	Acne	7353	UFD1	ORPHA:567
HP:0001061	Acne	421	ARVCF	ORPHA:567
HP:0001061	Acne	83550	GPR101	ORPHA:963
HP:0001061	Acne	9049	AIP	ORPHA:963
HP:0001061	Acne	3248	HPGD	ORPHA:2796
HP:0001061	Acne	64131	XYLT1	ORPHA:370930
HP:0001061	Acne	2099	ESR1	ORPHA:785
HP:0001061	Acne	2099	ESR1	OMIM:615363
HP:0001061	Acne	79798	ARMC5	ORPHA:189427
HP:0001061	Acne	23028	KDM1A	ORPHA:189427
HP:0001061	Acne	2778	GNAS	ORPHA:189427
HP:0001061	Acne	4212	MEIS2	ORPHA:261190
HP:0001061	Acne	175	AGA	OMIM:208400
HP:0001061	Acne	367	AR	ORPHA:99429
HP:0001061	Acne	2263	FGFR2	OMIM:101200
HP:0001061	Acne	1584	CYP11B1	ORPHA:90795
HP:0001061	Acne	149233	IL23R	ORPHA:117
HP:0001061	Acne	6775	STAT4	ORPHA:117
HP:0001061	Acne	3586	IL10	ORPHA:117
HP:0001061	Acne	1230	CCR1	ORPHA:117
HP:0001061	Acne	355	FAS	ORPHA:117
HP:0001061	Acne	3592	IL12A	ORPHA:117
HP:0001061	Acne	101928376	IL12A-AS1	ORPHA:117
HP:0001061	Acne	3106	HLA-B	ORPHA:117
HP:0001061	Acne	7099	TLR4	ORPHA:117
HP:0001061	Acne	3459	IFNGR1	ORPHA:117
HP:0001061	Acne	720	C4A	ORPHA:117
HP:0001061	Acne	337867	UBAC2	ORPHA:117
HP:0001061	Acne	51752	ERAP1	ORPHA:117
HP:0001061	Acne	8302	KLRC4	ORPHA:117
HP:0001061	Acne	5950	RBP4	OMIM:615147
HP:0001061	Acne	10525	HYOU1	OMIM:233600
HP:0001061	Acne	126695	KDF1	OMIM:617337
HP:0001061	Acne	10804	GJB6	ORPHA:477
HP:0001061	Acne	2706	GJB2	ORPHA:477
HP:0001061	Acne	3551	IKBKB	OMIM:618204
HP:0001061	Acne	23385	NCSTN	OMIM:142690
HP:0001061	Acne	55851	PSENEN	OMIM:613736
HP:0001061	Acne	55851	PSENEN	ORPHA:79145
HP:0001061	Acne	56983	POGLUT1	ORPHA:79145
HP:0001061	Acne	3852	KRT5	ORPHA:79145
HP:0001061	Acne	23509	POFUT1	ORPHA:79145
HP:0001061	Acne	5663	PSEN1	OMIM:613737
HP:0001062	Atypical nevus	1019	CDK4	OMIM:609048
HP:0001062	Atypical nevus	673	BRAF	OMIM:155600
HP:0001062	Atypical nevus	6794	STK11	OMIM:155600
HP:0001063	Acrocyanosis	23474	ETHE1	ORPHA:51188
HP:0001063	Acrocyanosis	23474	ETHE1	OMIM:602473
HP:0001063	Acrocyanosis	8518	ELP1	OMIM:223900
HP:0001063	Acrocyanosis	8518	ELP1	ORPHA:1764
HP:0001063	Acrocyanosis	6197	RPS6KA3	OMIM:303600
HP:0001063	Acrocyanosis	189	AGXT	OMIM:259900
HP:0001063	Acrocyanosis	6440	SFTPC	ORPHA:2032
HP:0001063	Acrocyanosis	729238	SFTPA2	ORPHA:2032
HP:0001063	Acrocyanosis	79991	STN1	ORPHA:2032
HP:0001063	Acrocyanosis	653509	SFTPA1	ORPHA:2032
HP:0001063	Acrocyanosis	21	ABCA3	ORPHA:2032
HP:0001063	Acrocyanosis	1832	DSP	ORPHA:2032
HP:0001063	Acrocyanosis	727897	MUC5B	ORPHA:2032
HP:0001063	Acrocyanosis	10144	FAM13A	ORPHA:2032
HP:0001063	Acrocyanosis	23250	ATP11A	ORPHA:2032
HP:0001063	Acrocyanosis	91039	DPP9	ORPHA:2032
HP:0001063	Acrocyanosis	51750	RTEL1	ORPHA:2032
HP:0001063	Acrocyanosis	7012	TERC	ORPHA:2032
HP:0001063	Acrocyanosis	5073	PARN	ORPHA:2032
HP:0001063	Acrocyanosis	7015	TERT	ORPHA:2032
HP:0001063	Acrocyanosis	2517	FUCA1	ORPHA:349
HP:0001063	Acrocyanosis	6925	TCF4	ORPHA:2896
HP:0001063	Acrocyanosis	4598	MVK	ORPHA:343
HP:0001063	Acrocyanosis	1277	COL1A1	ORPHA:287
HP:0001063	Acrocyanosis	1289	COL5A1	ORPHA:287
HP:0001063	Acrocyanosis	1290	COL5A2	ORPHA:287
HP:0001063	Acrocyanosis	11277	TREX1	OMIM:225750
HP:0001063	Acrocyanosis	11277	TREX1	ORPHA:51
HP:0001063	Acrocyanosis	51117	COQ4	OMIM:616276
HP:0001063	Acrocyanosis	10801	SEPTIN9	ORPHA:2901
HP:0001063	Acrocyanosis	2395	FXN	ORPHA:95
HP:0001063	Acrocyanosis	10535	RNASEH2A	ORPHA:51
HP:0001063	Acrocyanosis	84153	RNASEH2C	ORPHA:51
HP:0001063	Acrocyanosis	25939	SAMHD1	ORPHA:51
HP:0001063	Acrocyanosis	79621	RNASEH2B	ORPHA:51
HP:0001063	Acrocyanosis	103	ADAR	ORPHA:51
HP:0001063	Acrocyanosis	100147744	RNU7-1	ORPHA:51
HP:0001063	Acrocyanosis	134353	LSM11	ORPHA:51
HP:0001063	Acrocyanosis	64135	IFIH1	ORPHA:51
HP:0001063	Acrocyanosis	5077	PAX3	ORPHA:896
HP:0001069	Episodic hyperhidrosis	3767	KCNJ11	ORPHA:276580
HP:0001069	Episodic hyperhidrosis	8518	ELP1	OMIM:223900
HP:0001069	Episodic hyperhidrosis	7428	VHL	ORPHA:29072
HP:0001069	Episodic hyperhidrosis	7428	VHL	ORPHA:276621
HP:0001069	Episodic hyperhidrosis	1743	DLST	ORPHA:29072
HP:0001069	Episodic hyperhidrosis	4191	MDH2	ORPHA:29072
HP:0001069	Episodic hyperhidrosis	5979	RET	ORPHA:29072
HP:0001069	Episodic hyperhidrosis	5979	RET	ORPHA:276621
HP:0001069	Episodic hyperhidrosis	6389	SDHA	ORPHA:29072
HP:0001069	Episodic hyperhidrosis	23095	KIF1B	ORPHA:29072
HP:0001069	Episodic hyperhidrosis	2271	FH	ORPHA:29072
HP:0001069	Episodic hyperhidrosis	8402	SLC25A11	ORPHA:29072
HP:0001069	Episodic hyperhidrosis	54949	SDHAF2	ORPHA:29072
HP:0001069	Episodic hyperhidrosis	55654	TMEM127	ORPHA:29072
HP:0001069	Episodic hyperhidrosis	4763	NF1	ORPHA:29072
HP:0001069	Episodic hyperhidrosis	6391	SDHC	ORPHA:29072
HP:0001069	Episodic hyperhidrosis	6392	SDHD	ORPHA:29072
HP:0001069	Episodic hyperhidrosis	6392	SDHD	ORPHA:276621
HP:0001069	Episodic hyperhidrosis	6390	SDHB	ORPHA:29072
HP:0001069	Episodic hyperhidrosis	6390	SDHB	ORPHA:276621
HP:0001069	Episodic hyperhidrosis	4149	MAX	ORPHA:29072
HP:0001069	Episodic hyperhidrosis	54463	RETREG1	OMIM:613115
HP:0001069	Episodic hyperhidrosis	54463	RETREG1	OMIM:201300
HP:0001069	Episodic hyperhidrosis	7351	UCP2	ORPHA:276556
HP:0001069	Episodic hyperhidrosis	65125	WNK1	OMIM:201300
HP:0001069	Episodic hyperhidrosis	6335	SCN9A	OMIM:201300
HP:0001069	Episodic hyperhidrosis	547	KIF1A	OMIM:201300
HP:0001069	Episodic hyperhidrosis	1788	DNMT3A	ORPHA:276621
HP:0001069	Episodic hyperhidrosis	2034	EPAS1	ORPHA:276621
HP:0001069	Episodic hyperhidrosis	6927	HNF1A	ORPHA:324575
HP:0001069	Episodic hyperhidrosis	6833	ABCC8	ORPHA:276575
HP:0001069	Episodic hyperhidrosis	229	ALDOB	ORPHA:469
HP:0030307	Flared lower limb metaphysis	1311	COMP	OMIM:177170
HP:0030307	Flared lower limb metaphysis	59341	TRPV4	OMIM:156530
HP:0030307	Flared lower limb metaphysis	2146	EZH2	OMIM:277590
HP:0030307	Flared lower limb metaphysis	1302	COL11A2	ORPHA:1427
HP:0030307	Flared lower limb metaphysis	25885	POLR1A	OMIM:616462
HP:0030314	Periostosis	6578	SLCO2A1	OMIM:614441
HP:0030313	Abnormal periosteum morphology	9365	KL	OMIM:617994
HP:0030313	Abnormal periosteum morphology	1277	COL1A1	ORPHA:1310
HP:0030313	Abnormal periosteum morphology	1277	COL1A1	OMIM:114000
HP:0030313	Abnormal periosteum morphology	6578	SLCO2A1	OMIM:167100
HP:0030313	Abnormal periosteum morphology	2263	FGFR2	ORPHA:313855
HP:0030313	Abnormal periosteum morphology	2591	GALNT3	OMIM:211900
HP:0030313	Abnormal periosteum morphology	55503	TRPV6	OMIM:618188
HP:0030313	Abnormal periosteum morphology	56975	FAM20C	OMIM:259775
HP:0030313	Abnormal periosteum morphology	3557	IL1RN	OMIM:612852
HP:0030312	Obliteration of the calvarial diploe	1747	DLX3	ORPHA:3352
HP:0030311	Lower extremity joint dislocation	9361	LONP1	OMIM:600373
HP:0030311	Lower extremity joint dislocation	9361	LONP1	ORPHA:1458
HP:0030311	Lower extremity joint dislocation	64840	PORCN	OMIM:305600
HP:0030311	Lower extremity joint dislocation	6628	SNRPB	OMIM:117650
HP:0030311	Lower extremity joint dislocation	134218	DNAJC21	OMIM:617052
HP:0030311	Lower extremity joint dislocation	1182	CLCN3	OMIM:619512
HP:0030311	Lower extremity joint dislocation	63895	PIEZO2	OMIM:114300
HP:0030311	Lower extremity joint dislocation	2138	EYA1	OMIM:113650
HP:0030311	Lower extremity joint dislocation	6495	SIX1	OMIM:113650
HP:0030311	Lower extremity joint dislocation	84627	ZNF469	OMIM:229200
HP:0030311	Lower extremity joint dislocation	5048	PAFAH1B1	ORPHA:217385
HP:0030311	Lower extremity joint dislocation	7531	YWHAE	ORPHA:217385
HP:0030311	Lower extremity joint dislocation	6885	MAP3K7	OMIM:617137
HP:0030311	Lower extremity joint dislocation	23363	OBSL1	ORPHA:2616
HP:0030311	Lower extremity joint dislocation	83987	CCDC8	ORPHA:2616
HP:0030311	Lower extremity joint dislocation	8195	MKKS	OMIM:236700
HP:0030311	Lower extremity joint dislocation	1131	CHRM3	ORPHA:2970
HP:0030311	Lower extremity joint dislocation	1131	CHRM3	OMIM:100100
HP:0030311	Lower extremity joint dislocation	10060	ABCC9	OMIM:619719
HP:0030311	Lower extremity joint dislocation	23545	ATP6V0A2	OMIM:219200
HP:0030311	Lower extremity joint dislocation	23545	ATP6V0A2	ORPHA:357074
HP:0030311	Lower extremity joint dislocation	23545	ATP6V0A2	ORPHA:2834
HP:0030311	Lower extremity joint dislocation	23545	ATP6V0A2	OMIM:278250
HP:0030311	Lower extremity joint dislocation	9401	RECQL4	OMIM:268400
HP:0030311	Lower extremity joint dislocation	89910	UBE3B	OMIM:244450
HP:0030311	Lower extremity joint dislocation	1723	DHODH	OMIM:263750
HP:0030311	Lower extremity joint dislocation	60482	SLC5A7	ORPHA:98914
HP:0030311	Lower extremity joint dislocation	4649	MYO9A	ORPHA:98914
HP:0030311	Lower extremity joint dislocation	1305	COL13A1	ORPHA:98914
HP:0030311	Lower extremity joint dislocation	1103	CHAT	ORPHA:98914
HP:0030311	Lower extremity joint dislocation	6576	SLC25A1	ORPHA:98914
HP:0030311	Lower extremity joint dislocation	6843	VAMP1	ORPHA:98914
HP:0030311	Lower extremity joint dislocation	375790	AGRN	ORPHA:98914
HP:0030311	Lower extremity joint dislocation	127833	SYT2	ORPHA:98914
HP:0030311	Lower extremity joint dislocation	6572	SLC18A3	ORPHA:98914
HP:0030311	Lower extremity joint dislocation	6616	SNAP25	ORPHA:98914
HP:0030311	Lower extremity joint dislocation	55768	NGLY1	ORPHA:404454
HP:0030311	Lower extremity joint dislocation	6904	TBCD	ORPHA:496641
HP:0030311	Lower extremity joint dislocation	7547	ZIC3	OMIM:306955
HP:0030311	Lower extremity joint dislocation	2239	GPC4	ORPHA:373
HP:0030311	Lower extremity joint dislocation	2719	GPC3	ORPHA:373
HP:0030311	Lower extremity joint dislocation	529	ATP6V1E1	ORPHA:357074
HP:0030311	Lower extremity joint dislocation	5528	PPP2R5D	ORPHA:457279
HP:0030311	Lower extremity joint dislocation	5528	PPP2R5D	OMIM:616355
HP:0030311	Lower extremity joint dislocation	8260	NAA10	OMIM:300855
HP:0030311	Lower extremity joint dislocation	50814	NSDHL	OMIM:308050
HP:0030311	Lower extremity joint dislocation	50628	GEMIN4	OMIM:617913
HP:0030311	Lower extremity joint dislocation	3339	HSPG2	OMIM:255800
HP:0030311	Lower extremity joint dislocation	1281	COL3A1	ORPHA:286
HP:0030311	Lower extremity joint dislocation	57190	SELENON	ORPHA:2020
HP:0030311	Lower extremity joint dislocation	4633	MYL2	ORPHA:2020
HP:0030311	Lower extremity joint dislocation	3679	ITGA7	ORPHA:2020
HP:0030311	Lower extremity joint dislocation	9200	HACD1	ORPHA:2020
HP:0030311	Lower extremity joint dislocation	7170	TPM3	ORPHA:2020
HP:0030311	Lower extremity joint dislocation	7170	TPM3	OMIM:255310
HP:0030311	Lower extremity joint dislocation	51776	MAP3K20	ORPHA:2020
HP:0030311	Lower extremity joint dislocation	9427	ECEL1	OMIM:615065
HP:0030311	Lower extremity joint dislocation	7067	THRA	OMIM:614450
HP:0030311	Lower extremity joint dislocation	4035	LRP1	OMIM:620690
HP:0030311	Lower extremity joint dislocation	55703	POLR3B	OMIM:614381
HP:0030311	Lower extremity joint dislocation	10262	SF3B4	OMIM:154400
HP:0030311	Lower extremity joint dislocation	10054	UBA2	OMIM:619959
HP:0030311	Lower extremity joint dislocation	652	BMP4	ORPHA:828
HP:0030311	Lower extremity joint dislocation	1303	COL12A1	ORPHA:75840
HP:0030311	Lower extremity joint dislocation	1303	COL12A1	OMIM:616471
HP:0030311	Lower extremity joint dislocation	1291	COL6A1	ORPHA:75840
HP:0030311	Lower extremity joint dislocation	1291	COL6A1	OMIM:254090
HP:0030311	Lower extremity joint dislocation	1292	COL6A2	ORPHA:75840
HP:0030311	Lower extremity joint dislocation	1292	COL6A2	OMIM:620727
HP:0030311	Lower extremity joint dislocation	1293	COL6A3	ORPHA:75840
HP:0030311	Lower extremity joint dislocation	2317	FLNB	ORPHA:56305
HP:0030311	Lower extremity joint dislocation	2317	FLNB	OMIM:150250
HP:0030311	Lower extremity joint dislocation	4784	NFIX	ORPHA:447980
HP:0030311	Lower extremity joint dislocation	6662	SOX9	ORPHA:140
HP:0030311	Lower extremity joint dislocation	6662	SOX9	OMIM:114290
HP:0030311	Lower extremity joint dislocation	58	ACTA1	ORPHA:171436
HP:0030311	Lower extremity joint dislocation	7169	TPM2	ORPHA:171436
HP:0030311	Lower extremity joint dislocation	4703	NEB	ORPHA:171436
HP:0030311	Lower extremity joint dislocation	10324	KLHL41	ORPHA:171436
HP:0030311	Lower extremity joint dislocation	56203	LMOD3	ORPHA:171436
HP:0030311	Lower extremity joint dislocation	1073	CFL2	ORPHA:171436
HP:0030311	Lower extremity joint dislocation	6536	SLC6A9	OMIM:617301
HP:0030311	Lower extremity joint dislocation	1855	DVL1	OMIM:616331
HP:0030311	Lower extremity joint dislocation	1855	DVL1	ORPHA:3107
HP:0030311	Lower extremity joint dislocation	16	AARS1	OMIM:616339
HP:0030311	Lower extremity joint dislocation	1717	DHCR7	ORPHA:818
HP:0030311	Lower extremity joint dislocation	1717	DHCR7	OMIM:270400
HP:0030311	Lower extremity joint dislocation	9915	ARNT2	OMIM:615926
HP:0030311	Lower extremity joint dislocation	10225	CD96	OMIM:211750
HP:0030311	Lower extremity joint dislocation	79158	GNPTAB	OMIM:252500
HP:0030311	Lower extremity joint dislocation	79158	GNPTAB	ORPHA:576
HP:0030311	Lower extremity joint dislocation	4626	MYH8	ORPHA:3377
HP:0030311	Lower extremity joint dislocation	4626	MYH8	OMIM:158300
HP:0030311	Lower extremity joint dislocation	4038	LRP4	ORPHA:3258
HP:0030311	Lower extremity joint dislocation	324	APC	ORPHA:3258
HP:0030311	Lower extremity joint dislocation	1146	CHRNG	OMIM:265000
HP:0030311	Lower extremity joint dislocation	1351	COX8A	OMIM:619059
HP:0030311	Lower extremity joint dislocation	3899	AFF3	OMIM:619297
HP:0030311	Lower extremity joint dislocation	3572	IL6ST	OMIM:618523
HP:0030311	Lower extremity joint dislocation	55699	IARS2	ORPHA:436174
HP:0030311	Lower extremity joint dislocation	55699	IARS2	OMIM:616007
HP:0030311	Lower extremity joint dislocation	672	BRCA1	ORPHA:84
HP:0030311	Lower extremity joint dislocation	10459	MAD2L2	ORPHA:84
HP:0030311	Lower extremity joint dislocation	7516	XRCC2	ORPHA:84
HP:0030311	Lower extremity joint dislocation	29089	UBE2T	ORPHA:84
HP:0030311	Lower extremity joint dislocation	675	BRCA2	ORPHA:84
HP:0030311	Lower extremity joint dislocation	55120	FANCL	ORPHA:84
HP:0030311	Lower extremity joint dislocation	2177	FANCD2	ORPHA:84
HP:0030311	Lower extremity joint dislocation	2175	FANCA	ORPHA:84
HP:0030311	Lower extremity joint dislocation	2187	FANCB	ORPHA:84
HP:0030311	Lower extremity joint dislocation	2187	FANCB	ORPHA:3412
HP:0030311	Lower extremity joint dislocation	2176	FANCC	ORPHA:84
HP:0030311	Lower extremity joint dislocation	2178	FANCE	ORPHA:84
HP:0030311	Lower extremity joint dislocation	2188	FANCF	ORPHA:84
HP:0030311	Lower extremity joint dislocation	2189	FANCG	ORPHA:84
HP:0030311	Lower extremity joint dislocation	5888	RAD51	ORPHA:84
HP:0030311	Lower extremity joint dislocation	5889	RAD51C	ORPHA:84
HP:0030311	Lower extremity joint dislocation	55159	RFWD3	ORPHA:84
HP:0030311	Lower extremity joint dislocation	83990	BRIP1	ORPHA:84
HP:0030311	Lower extremity joint dislocation	57697	FANCM	ORPHA:84
HP:0030311	Lower extremity joint dislocation	79728	PALB2	ORPHA:84
HP:0030311	Lower extremity joint dislocation	84464	SLX4	ORPHA:84
HP:0030311	Lower extremity joint dislocation	2072	ERCC4	ORPHA:84
HP:0030311	Lower extremity joint dislocation	55215	FANCI	ORPHA:84
HP:0030311	Lower extremity joint dislocation	8200	GDF5	ORPHA:968
HP:0030311	Lower extremity joint dislocation	8200	GDF5	OMIM:201250
HP:0030311	Lower extremity joint dislocation	1277	COL1A1	ORPHA:287
HP:0030311	Lower extremity joint dislocation	1277	COL1A1	ORPHA:1899
HP:0030311	Lower extremity joint dislocation	1289	COL5A1	ORPHA:287
HP:0030311	Lower extremity joint dislocation	1290	COL5A2	ORPHA:287
HP:0030311	Lower extremity joint dislocation	57531	HACE1	ORPHA:464282
HP:0030311	Lower extremity joint dislocation	57531	HACE1	OMIM:616756
HP:0030311	Lower extremity joint dislocation	9896	FIG4	ORPHA:3472
HP:0030311	Lower extremity joint dislocation	9896	FIG4	OMIM:216340
HP:0030311	Lower extremity joint dislocation	55697	VAC14	ORPHA:3472
HP:0030311	Lower extremity joint dislocation	860	RUNX2	OMIM:119600
HP:0030311	Lower extremity joint dislocation	22872	SEC31A	OMIM:618651
HP:0030311	Lower extremity joint dislocation	10682	EBP	ORPHA:35173
HP:0030311	Lower extremity joint dislocation	28514	DLL1	ORPHA:93926
HP:0030311	Lower extremity joint dislocation	28514	DLL1	ORPHA:93924
HP:0030311	Lower extremity joint dislocation	28514	DLL1	ORPHA:93925
HP:0030311	Lower extremity joint dislocation	28514	DLL1	ORPHA:220386
HP:0030311	Lower extremity joint dislocation	2253	FGF8	ORPHA:93926
HP:0030311	Lower extremity joint dislocation	2253	FGF8	ORPHA:93924
HP:0030311	Lower extremity joint dislocation	2253	FGF8	ORPHA:93925
HP:0030311	Lower extremity joint dislocation	2253	FGF8	ORPHA:220386
HP:0030311	Lower extremity joint dislocation	6496	SIX3	ORPHA:93926
HP:0030311	Lower extremity joint dislocation	6496	SIX3	ORPHA:93924
HP:0030311	Lower extremity joint dislocation	6496	SIX3	ORPHA:93925
HP:0030311	Lower extremity joint dislocation	6496	SIX3	ORPHA:220386
HP:0030311	Lower extremity joint dislocation	7050	TGIF1	ORPHA:93926
HP:0030311	Lower extremity joint dislocation	7050	TGIF1	ORPHA:93924
HP:0030311	Lower extremity joint dislocation	7050	TGIF1	ORPHA:93925
HP:0030311	Lower extremity joint dislocation	7050	TGIF1	ORPHA:220386
HP:0030311	Lower extremity joint dislocation	4838	NODAL	ORPHA:93926
HP:0030311	Lower extremity joint dislocation	4838	NODAL	ORPHA:93924
HP:0030311	Lower extremity joint dislocation	4838	NODAL	ORPHA:93925
HP:0030311	Lower extremity joint dislocation	4838	NODAL	ORPHA:220386
HP:0030311	Lower extremity joint dislocation	6469	SHH	ORPHA:93926
HP:0030311	Lower extremity joint dislocation	6469	SHH	ORPHA:93924
HP:0030311	Lower extremity joint dislocation	6469	SHH	ORPHA:93925
HP:0030311	Lower extremity joint dislocation	6469	SHH	ORPHA:220386
HP:0030311	Lower extremity joint dislocation	7546	ZIC2	ORPHA:93926
HP:0030311	Lower extremity joint dislocation	7546	ZIC2	ORPHA:93924
HP:0030311	Lower extremity joint dislocation	7546	ZIC2	ORPHA:93925
HP:0030311	Lower extremity joint dislocation	7546	ZIC2	ORPHA:220386
HP:0030311	Lower extremity joint dislocation	6491	STIL	ORPHA:93926
HP:0030311	Lower extremity joint dislocation	6491	STIL	ORPHA:93924
HP:0030311	Lower extremity joint dislocation	6491	STIL	ORPHA:93925
HP:0030311	Lower extremity joint dislocation	6491	STIL	ORPHA:220386
HP:0030311	Lower extremity joint dislocation	2619	GAS1	ORPHA:93926
HP:0030311	Lower extremity joint dislocation	2619	GAS1	ORPHA:93924
HP:0030311	Lower extremity joint dislocation	2619	GAS1	ORPHA:93925
HP:0030311	Lower extremity joint dislocation	2619	GAS1	ORPHA:220386
HP:0030311	Lower extremity joint dislocation	84976	DISP1	ORPHA:93926
HP:0030311	Lower extremity joint dislocation	84976	DISP1	ORPHA:93924
HP:0030311	Lower extremity joint dislocation	84976	DISP1	ORPHA:93925
HP:0030311	Lower extremity joint dislocation	84976	DISP1	ORPHA:220386
HP:0030311	Lower extremity joint dislocation	2736	GLI2	ORPHA:93926
HP:0030311	Lower extremity joint dislocation	2736	GLI2	ORPHA:93924
HP:0030311	Lower extremity joint dislocation	2736	GLI2	ORPHA:93925
HP:0030311	Lower extremity joint dislocation	2736	GLI2	ORPHA:220386
HP:0030311	Lower extremity joint dislocation	8928	FOXH1	ORPHA:93926
HP:0030311	Lower extremity joint dislocation	8928	FOXH1	ORPHA:93924
HP:0030311	Lower extremity joint dislocation	8928	FOXH1	ORPHA:93925
HP:0030311	Lower extremity joint dislocation	8928	FOXH1	ORPHA:220386
HP:0030311	Lower extremity joint dislocation	6997	CRIPTO	ORPHA:93926
HP:0030311	Lower extremity joint dislocation	6997	CRIPTO	ORPHA:93924
HP:0030311	Lower extremity joint dislocation	6997	CRIPTO	ORPHA:93925
HP:0030311	Lower extremity joint dislocation	6997	CRIPTO	ORPHA:220386
HP:0030311	Lower extremity joint dislocation	5727	PTCH1	ORPHA:93926
HP:0030311	Lower extremity joint dislocation	5727	PTCH1	ORPHA:93924
HP:0030311	Lower extremity joint dislocation	5727	PTCH1	ORPHA:93925
HP:0030311	Lower extremity joint dislocation	5727	PTCH1	ORPHA:220386
HP:0030311	Lower extremity joint dislocation	50937	CDON	ORPHA:93926
HP:0030311	Lower extremity joint dislocation	50937	CDON	ORPHA:93924
HP:0030311	Lower extremity joint dislocation	50937	CDON	ORPHA:93925
HP:0030311	Lower extremity joint dislocation	50937	CDON	ORPHA:220386
HP:0030311	Lower extremity joint dislocation	2260	FGFR1	ORPHA:93924
HP:0030311	Lower extremity joint dislocation	2260	FGFR1	ORPHA:220386
HP:0030311	Lower extremity joint dislocation	23007	PLCH1	ORPHA:93925
HP:0030311	Lower extremity joint dislocation	10735	STAG2	ORPHA:93925
HP:0030311	Lower extremity joint dislocation	10735	STAG2	ORPHA:220386
HP:0030311	Lower extremity joint dislocation	7468	NSD2	OMIM:194190
HP:0030311	Lower extremity joint dislocation	10815	CPLX1	OMIM:194190
HP:0030311	Lower extremity joint dislocation	1487	CTBP1	OMIM:194190
HP:0030311	Lower extremity joint dislocation	53834	FGFRL1	OMIM:194190
HP:0030311	Lower extremity joint dislocation	3954	LETM1	OMIM:194190
HP:0030311	Lower extremity joint dislocation	9487	PIGL	ORPHA:3474
HP:0030311	Lower extremity joint dislocation	2697	GJA1	OMIM:164200
HP:0030311	Lower extremity joint dislocation	165	AEBP1	ORPHA:536532
HP:0030311	Lower extremity joint dislocation	165	AEBP1	OMIM:618000
HP:0030311	Lower extremity joint dislocation	85301	COL27A1	OMIM:615155
HP:0030311	Lower extremity joint dislocation	1857	DVL3	ORPHA:3107
HP:0030311	Lower extremity joint dislocation	7474	WNT5A	ORPHA:3107
HP:0030311	Lower extremity joint dislocation	2535	FZD2	ORPHA:3107
HP:0030311	Lower extremity joint dislocation	3098	HK1	OMIM:618547
HP:0030311	Lower extremity joint dislocation	81031	SLC2A10	ORPHA:3342
HP:0030311	Lower extremity joint dislocation	4952	OCRL	OMIM:309000
HP:0030311	Lower extremity joint dislocation	4952	OCRL	ORPHA:534
HP:0030311	Lower extremity joint dislocation	145258	GSC	OMIM:602471
HP:0030311	Lower extremity joint dislocation	6558	SLC12A2	OMIM:619083
HP:0030311	Lower extremity joint dislocation	78989	COLEC11	OMIM:265050
HP:0030311	Lower extremity joint dislocation	78989	COLEC11	ORPHA:293843
HP:0030311	Lower extremity joint dislocation	3251	HPRT1	OMIM:300322
HP:0030311	Lower extremity joint dislocation	23187	PHLDB1	OMIM:620639
HP:0030311	Lower extremity joint dislocation	7140	TNNT3	OMIM:618435
HP:0030311	Lower extremity joint dislocation	2316	FLNA	ORPHA:2484
HP:0030311	Lower extremity joint dislocation	2316	FLNA	OMIM:309350
HP:0030311	Lower extremity joint dislocation	2316	FLNA	OMIM:311300
HP:0030311	Lower extremity joint dislocation	5832	ALDH18A1	OMIM:219150
HP:0030311	Lower extremity joint dislocation	5832	ALDH18A1	ORPHA:90348
HP:0030311	Lower extremity joint dislocation	5832	ALDH18A1	OMIM:616603
HP:0030311	Lower extremity joint dislocation	3187	HNRNPH1	OMIM:620083
HP:0030311	Lower extremity joint dislocation	4920	ROR2	OMIM:268310
HP:0030311	Lower extremity joint dislocation	3835	KIF22	OMIM:603546
HP:0030311	Lower extremity joint dislocation	3835	KIF22	ORPHA:93360
HP:0030311	Lower extremity joint dislocation	7030	TFE3	OMIM:301066
HP:0030311	Lower extremity joint dislocation	51651	PTRH2	OMIM:616263
HP:0030311	Lower extremity joint dislocation	2006	ELN	ORPHA:90348
HP:0030311	Lower extremity joint dislocation	10516	FBLN5	ORPHA:90348
HP:0030311	Lower extremity joint dislocation	10516	FBLN5	ORPHA:90349
HP:0030311	Lower extremity joint dislocation	4052	LTBP1	ORPHA:90349
HP:0030311	Lower extremity joint dislocation	4052	LTBP1	OMIM:619451
HP:0030311	Lower extremity joint dislocation	30008	EFEMP2	ORPHA:90349
HP:0030311	Lower extremity joint dislocation	55681	SCYL2	ORPHA:1143
HP:0030311	Lower extremity joint dislocation	84570	COL25A1	ORPHA:1143
HP:0030311	Lower extremity joint dislocation	57222	ERGIC1	ORPHA:1143
HP:0030311	Lower extremity joint dislocation	7476	WNT7A	OMIM:276820
HP:0030311	Lower extremity joint dislocation	9939	RBM8A	ORPHA:3320
HP:0030311	Lower extremity joint dislocation	9939	RBM8A	OMIM:274000
HP:0030311	Lower extremity joint dislocation	9775	EIF4A3	OMIM:268305
HP:0030311	Lower extremity joint dislocation	81603	TRIM8	OMIM:619428
HP:0030311	Lower extremity joint dislocation	2737	GLI3	ORPHA:672
HP:0030311	Lower extremity joint dislocation	2737	GLI3	OMIM:146510
HP:0030311	Lower extremity joint dislocation	2737	GLI3	ORPHA:93322
HP:0030311	Lower extremity joint dislocation	22827	PUF60	ORPHA:508498
HP:0030311	Lower extremity joint dislocation	22827	PUF60	OMIM:615583
HP:0030311	Lower extremity joint dislocation	55906	ZC4H2	OMIM:301041
HP:0030311	Lower extremity joint dislocation	55906	ZC4H2	OMIM:314580
HP:0030311	Lower extremity joint dislocation	9759	HDAC4	OMIM:619797
HP:0030311	Lower extremity joint dislocation	56896	DPYSL5	OMIM:619435
HP:0030311	Lower extremity joint dislocation	579	NKX3-2	OMIM:613330
HP:0030311	Lower extremity joint dislocation	100151683	RNU4ATAC	OMIM:210710
HP:0030311	Lower extremity joint dislocation	100151683	RNU4ATAC	OMIM:226960
HP:0030311	Lower extremity joint dislocation	253738	EBF3	ORPHA:96148
HP:0030311	Lower extremity joint dislocation	90459	ERI1	OMIM:620663
HP:0030311	Lower extremity joint dislocation	90459	ERI1	OMIM:620662
HP:0030311	Lower extremity joint dislocation	79796	ALG9	OMIM:608776
HP:0030311	Lower extremity joint dislocation	1278	COL1A2	OMIM:617821
HP:0030311	Lower extremity joint dislocation	1278	COL1A2	ORPHA:1899
HP:0030311	Lower extremity joint dislocation	1836	SLC26A2	ORPHA:93307
HP:0030311	Lower extremity joint dislocation	55784	MCTP2	ORPHA:1596
HP:0030311	Lower extremity joint dislocation	8085	KMT2D	ORPHA:2322
HP:0030311	Lower extremity joint dislocation	7403	KDM6A	ORPHA:2322
HP:0030311	Lower extremity joint dislocation	7403	KDM6A	OMIM:300867
HP:0030311	Lower extremity joint dislocation	5831	PYCR1	OMIM:614438
HP:0030311	Lower extremity joint dislocation	5831	PYCR1	ORPHA:2078
HP:0030311	Lower extremity joint dislocation	51010	EXOSC3	OMIM:614678
HP:0030311	Lower extremity joint dislocation	6263	RYR3	OMIM:620310
HP:0030311	Lower extremity joint dislocation	2067	ERCC1	OMIM:610758
HP:0030311	Lower extremity joint dislocation	23499	MACF1	ORPHA:572013
HP:0030311	Lower extremity joint dislocation	387119	CEP85L	ORPHA:572013
HP:0030311	Lower extremity joint dislocation	64135	IFIH1	OMIM:182250
HP:0030311	Lower extremity joint dislocation	29925	GMPPB	ORPHA:370968
HP:0030311	Lower extremity joint dislocation	79147	FKRP	ORPHA:370968
HP:0030311	Lower extremity joint dislocation	29954	POMT2	ORPHA:370968
HP:0030311	Lower extremity joint dislocation	29954	POMT2	OMIM:613156
HP:0030311	Lower extremity joint dislocation	9215	LARGE1	ORPHA:370968
HP:0030311	Lower extremity joint dislocation	10585	POMT1	ORPHA:370968
HP:0030311	Lower extremity joint dislocation	4621	MYH3	OMIM:193700
HP:0030311	Lower extremity joint dislocation	2530	FUT8	OMIM:618005
HP:0030311	Lower extremity joint dislocation	64131	XYLT1	OMIM:615777
HP:0030311	Lower extremity joint dislocation	29920	PYCR2	ORPHA:481152
HP:0030311	Lower extremity joint dislocation	9820	CUL7	OMIM:273750
HP:0030311	Lower extremity joint dislocation	6678	SPARC	OMIM:616507
HP:0030311	Lower extremity joint dislocation	9719	ADAMTSL2	ORPHA:1901
HP:0030311	Lower extremity joint dislocation	9509	ADAMTS2	ORPHA:1901
HP:0030311	Lower extremity joint dislocation	5351	PLOD1	ORPHA:1900
HP:0030311	Lower extremity joint dislocation	64093	SMOC1	ORPHA:1106
HP:0030311	Lower extremity joint dislocation	64093	SMOC1	OMIM:206920
HP:0030311	Lower extremity joint dislocation	25778	DSTYK	ORPHA:101003
HP:0030311	Lower extremity joint dislocation	1280	COL2A1	OMIM:156550
HP:0030311	Lower extremity joint dislocation	1280	COL2A1	OMIM:183900
HP:0030311	Lower extremity joint dislocation	2743	GLRB	ORPHA:3197
HP:0030311	Lower extremity joint dislocation	2741	GLRA1	ORPHA:3197
HP:0030311	Lower extremity joint dislocation	2741	GLRA1	OMIM:149400
HP:0030311	Lower extremity joint dislocation	10243	GPHN	ORPHA:3197
HP:0030311	Lower extremity joint dislocation	10243	GPHN	OMIM:149400
HP:0030311	Lower extremity joint dislocation	84896	ATAD1	ORPHA:3197
HP:0030311	Lower extremity joint dislocation	9152	SLC6A5	ORPHA:3197
HP:0030311	Lower extremity joint dislocation	26175	LYSET	OMIM:619345
HP:0030311	Lower extremity joint dislocation	9451	EIF2AK3	OMIM:226980
HP:0030311	Lower extremity joint dislocation	545	ATR	OMIM:210600
HP:0030311	Lower extremity joint dislocation	64374	SIL1	ORPHA:559
HP:0030311	Lower extremity joint dislocation	55644	OSGEP	OMIM:617729
HP:0030311	Lower extremity joint dislocation	2313	FLI1	ORPHA:2308
HP:0030311	Lower extremity joint dislocation	23476	BRD4	ORPHA:199
HP:0030311	Lower extremity joint dislocation	9126	SMC3	ORPHA:199
HP:0030311	Lower extremity joint dislocation	8243	SMC1A	ORPHA:199
HP:0030311	Lower extremity joint dislocation	8243	SMC1A	ORPHA:220386
HP:0030311	Lower extremity joint dislocation	6878	TAF6	ORPHA:199
HP:0030311	Lower extremity joint dislocation	25836	NIPBL	ORPHA:199
HP:0030311	Lower extremity joint dislocation	55869	HDAC8	ORPHA:199
HP:0030311	Lower extremity joint dislocation	5885	RAD21	ORPHA:199
HP:0030311	Lower extremity joint dislocation	538	ATP7A	ORPHA:198
HP:0030311	Lower extremity joint dislocation	57003	CCDC47	OMIM:618268
HP:0030311	Lower extremity joint dislocation	10526	IPO8	OMIM:619472
HP:0030311	Lower extremity joint dislocation	1861	TOR1A	OMIM:618947
HP:0030311	Lower extremity joint dislocation	23443	SLC35A3	OMIM:615553
HP:0030311	Lower extremity joint dislocation	23443	SLC35A3	ORPHA:370943
HP:0030311	Lower extremity joint dislocation	6608	SMO	OMIM:241800
HP:0030311	Lower extremity joint dislocation	4796	TONSL	ORPHA:93357
HP:0030311	Lower extremity joint dislocation	207	AKT1	ORPHA:744
HP:0030311	Lower extremity joint dislocation	4000	LMNA	ORPHA:740
HP:0030311	Lower extremity joint dislocation	10269	ZMPSTE24	ORPHA:740
HP:0030311	Lower extremity joint dislocation	51360	MBTPS2	OMIM:308205
HP:0030311	Lower extremity joint dislocation	8239	USP9X	OMIM:300968
HP:0030311	Lower extremity joint dislocation	23233	EXOC6B	OMIM:618395
HP:0030311	Lower extremity joint dislocation	113246	C12orf57	OMIM:218340
HP:0030311	Lower extremity joint dislocation	126792	B3GALT6	OMIM:271640
HP:0030311	Lower extremity joint dislocation	126792	B3GALT6	OMIM:615349
HP:0030311	Lower extremity joint dislocation	284058	KANSL1	OMIM:610443
HP:0030311	Lower extremity joint dislocation	92344	GORAB	ORPHA:2078
HP:0030311	Lower extremity joint dislocation	10584	COLEC10	ORPHA:293843
HP:0030311	Lower extremity joint dislocation	5648	MASP1	ORPHA:293843
HP:0030311	Lower extremity joint dislocation	23299	BICD2	OMIM:618291
HP:0030311	Lower extremity joint dislocation	9469	CHST3	OMIM:245600
HP:0030311	Lower extremity joint dislocation	26229	B3GAT3	OMIM:245600
HP:0030311	Lower extremity joint dislocation	6913	TBX15	OMIM:260660
HP:0030311	Lower extremity joint dislocation	523	ATP6V1A	OMIM:617403
HP:0030311	Lower extremity joint dislocation	3207	HOXA11	OMIM:605432
HP:0030311	Lower extremity joint dislocation	375	ARF1	ORPHA:98892
HP:0030311	Lower extremity joint dislocation	4131	MAP1B	ORPHA:98892
HP:0030311	Lower extremity joint dislocation	23327	NEDD4L	ORPHA:98892
HP:0030311	Lower extremity joint dislocation	160418	TMTC3	ORPHA:98892
HP:0030311	Lower extremity joint dislocation	10564	ARFGEF2	ORPHA:98892
HP:0030311	Lower extremity joint dislocation	55780	ERMARD	ORPHA:98892
HP:0030311	Lower extremity joint dislocation	50515	CHST11	OMIM:618167
HP:0030311	Lower extremity joint dislocation	2033	EP300	OMIM:180849
HP:0030311	Lower extremity joint dislocation	2033	EP300	ORPHA:353284
HP:0030311	Lower extremity joint dislocation	1387	CREBBP	OMIM:180849
HP:0030311	Lower extremity joint dislocation	1387	CREBBP	ORPHA:353277
HP:0030311	Lower extremity joint dislocation	1387	CREBBP	ORPHA:353281
HP:0030311	Lower extremity joint dislocation	23522	KAT6B	OMIM:606170
HP:0030311	Lower extremity joint dislocation	23522	KAT6B	OMIM:603736
HP:0030311	Lower extremity joint dislocation	7528	YY1	OMIM:617557
HP:0030311	Lower extremity joint dislocation	4010	LMX1B	ORPHA:2614
HP:0030311	Lower extremity joint dislocation	4010	LMX1B	OMIM:161200
HP:0030311	Lower extremity joint dislocation	4010	LMX1B	ORPHA:495818
HP:0030311	Lower extremity joint dislocation	5290	PIK3CA	ORPHA:140944
HP:0030311	Lower extremity joint dislocation	91461	PKDCC	OMIM:618821
HP:0030311	Lower extremity joint dislocation	6804	STX1A	ORPHA:904
HP:0030311	Lower extremity joint dislocation	7461	CLIP2	ORPHA:904
HP:0030311	Lower extremity joint dislocation	84277	DNAJC30	ORPHA:904
HP:0030311	Lower extremity joint dislocation	8468	FKBP6	ORPHA:904
HP:0030311	Lower extremity joint dislocation	5982	RFC2	ORPHA:904
HP:0030311	Lower extremity joint dislocation	2969	GTF2I	ORPHA:904
HP:0030311	Lower extremity joint dislocation	3984	LIMK1	ORPHA:904
HP:0030311	Lower extremity joint dislocation	9569	GTF2IRD1	ORPHA:904
HP:0030311	Lower extremity joint dislocation	155382	VPS37D	ORPHA:904
HP:0030311	Lower extremity joint dislocation	155368	METTL27	ORPHA:904
HP:0030311	Lower extremity joint dislocation	114049	BUD23	ORPHA:904
HP:0030311	Lower extremity joint dislocation	7458	EIF4H	ORPHA:904
HP:0030311	Lower extremity joint dislocation	84163	GTF2IRD2	ORPHA:904
HP:0030311	Lower extremity joint dislocation	26608	TBL2	ORPHA:904
HP:0030311	Lower extremity joint dislocation	653361	NCF1	ORPHA:904
HP:0030311	Lower extremity joint dislocation	135886	TMEM270	ORPHA:904
HP:0030311	Lower extremity joint dislocation	9031	BAZ1B	ORPHA:904
HP:0030311	Lower extremity joint dislocation	9496	TBX4	OMIM:147891
HP:0030311	Lower extremity joint dislocation	1312	COMT	ORPHA:567
HP:0030311	Lower extremity joint dislocation	221037	JMJD1C	ORPHA:567
HP:0030311	Lower extremity joint dislocation	2812	GP1BB	ORPHA:567
HP:0030311	Lower extremity joint dislocation	6239	RREB1	ORPHA:567
HP:0030311	Lower extremity joint dislocation	6899	TBX1	ORPHA:567
HP:0030311	Lower extremity joint dislocation	6899	TBX1	OMIM:188400
HP:0030311	Lower extremity joint dislocation	7290	HIRA	ORPHA:567
HP:0030311	Lower extremity joint dislocation	9632	SEC24C	ORPHA:567
HP:0030311	Lower extremity joint dislocation	7353	UFD1	ORPHA:567
HP:0030311	Lower extremity joint dislocation	421	ARVCF	ORPHA:567
HP:0030311	Lower extremity joint dislocation	124583	CANT1	ORPHA:1425
HP:0030311	Lower extremity joint dislocation	55790	CSGALNACT1	ORPHA:1425
HP:0030311	Lower extremity joint dislocation	65267	WNK3	OMIM:309610
HP:0030311	Lower extremity joint dislocation	54928	BPNT2	OMIM:614078
HP:0030311	Lower extremity joint dislocation	6812	STXBP1	ORPHA:495818
HP:0030311	Lower extremity joint dislocation	2201	FBN2	OMIM:121050
HP:0030311	Lower extremity joint dislocation	4853	NOTCH2	ORPHA:955
HP:0030311	Lower extremity joint dislocation	6261	RYR1	ORPHA:178145
HP:0030311	Lower extremity joint dislocation	79989	IFT56	OMIM:619534
HP:0030311	Lower extremity joint dislocation	84068	SLC10A7	OMIM:618363
HP:0030311	Lower extremity joint dislocation	347734	SLC35B2	OMIM:620269
HP:0030311	Lower extremity joint dislocation	10586	MAB21L2	OMIM:615877
HP:0030311	Lower extremity joint dislocation	91179	SCARF2	OMIM:600920
HP:0030311	Lower extremity joint dislocation	5567	PRKACB	OMIM:619143
HP:0030311	Lower extremity joint dislocation	23345	SYNE1	ORPHA:319332
HP:0030311	Lower extremity joint dislocation	2273	FHL1	OMIM:300280
HP:0030311	Lower extremity joint dislocation	9894	TELO2	ORPHA:488642
HP:0030311	Lower extremity joint dislocation	57477	SHROOM4	ORPHA:85288
HP:0030311	Lower extremity joint dislocation	2192	FBLN1	ORPHA:404451
HP:0030311	Lower extremity joint dislocation	8218	CLTCL1	ORPHA:453510
HP:0030311	Lower extremity joint dislocation	7319	UBE2A	ORPHA:163956
HP:0030310	Upper extremity joint dislocation	23476	BRD4	ORPHA:199
HP:0030310	Upper extremity joint dislocation	9126	SMC3	ORPHA:199
HP:0030310	Upper extremity joint dislocation	8243	SMC1A	ORPHA:199
HP:0030310	Upper extremity joint dislocation	6878	TAF6	ORPHA:199
HP:0030310	Upper extremity joint dislocation	25836	NIPBL	ORPHA:199
HP:0030310	Upper extremity joint dislocation	55869	HDAC8	ORPHA:199
HP:0030310	Upper extremity joint dislocation	5885	RAD21	ORPHA:199
HP:0030310	Upper extremity joint dislocation	1857	DVL3	ORPHA:3107
HP:0030310	Upper extremity joint dislocation	7474	WNT5A	ORPHA:3107
HP:0030310	Upper extremity joint dislocation	1855	DVL1	ORPHA:3107
HP:0030310	Upper extremity joint dislocation	2535	FZD2	ORPHA:3107
HP:0030310	Upper extremity joint dislocation	2535	FZD2	ORPHA:93328
HP:0030310	Upper extremity joint dislocation	100151683	RNU4ATAC	OMIM:210710
HP:0030310	Upper extremity joint dislocation	100151683	RNU4ATAC	ORPHA:1824
HP:0030310	Upper extremity joint dislocation	347734	SLC35B2	OMIM:620269
HP:0030310	Upper extremity joint dislocation	1836	SLC26A2	ORPHA:628
HP:0030310	Upper extremity joint dislocation	1836	SLC26A2	ORPHA:56304
HP:0030310	Upper extremity joint dislocation	2317	FLNB	ORPHA:56305
HP:0030310	Upper extremity joint dislocation	2317	FLNB	OMIM:108721
HP:0030310	Upper extremity joint dislocation	2317	FLNB	OMIM:108720
HP:0030310	Upper extremity joint dislocation	2317	FLNB	OMIM:150250
HP:0030310	Upper extremity joint dislocation	9241	NOG	ORPHA:3250
HP:0030310	Upper extremity joint dislocation	8200	GDF5	ORPHA:3250
HP:0030310	Upper extremity joint dislocation	8200	GDF5	OMIM:201250
HP:0030310	Upper extremity joint dislocation	8200	GDF5	ORPHA:968
HP:0030310	Upper extremity joint dislocation	2201	FBN2	OMIM:121050
HP:0030310	Upper extremity joint dislocation	9555	MACROH2A1	ORPHA:1275
HP:0030310	Upper extremity joint dislocation	5307	PITX1	ORPHA:1275
HP:0030310	Upper extremity joint dislocation	4038	LRP4	ORPHA:3258
HP:0030310	Upper extremity joint dislocation	324	APC	ORPHA:3258
HP:0030310	Upper extremity joint dislocation	3187	HNRNPH1	OMIM:620083
HP:0030310	Upper extremity joint dislocation	4998	ORC1	OMIM:224690
HP:0030310	Upper extremity joint dislocation	4998	ORC1	ORPHA:2554
HP:0030310	Upper extremity joint dislocation	9469	CHST3	OMIM:143095
HP:0030310	Upper extremity joint dislocation	64359	NXN	ORPHA:1507
HP:0030310	Upper extremity joint dislocation	4920	ROR2	ORPHA:1507
HP:0030310	Upper extremity joint dislocation	81620	CDT1	ORPHA:2554
HP:0030310	Upper extremity joint dislocation	5000	ORC4	ORPHA:2554
HP:0030310	Upper extremity joint dislocation	23594	ORC6	ORPHA:2554
HP:0030310	Upper extremity joint dislocation	8318	CDC45	ORPHA:2554
HP:0030310	Upper extremity joint dislocation	990	CDC6	ORPHA:2554
HP:0030310	Upper extremity joint dislocation	990	CDC6	OMIM:613805
HP:0030310	Upper extremity joint dislocation	51053	GMNN	ORPHA:2554
HP:0030310	Upper extremity joint dislocation	64131	XYLT1	ORPHA:1425
HP:0030310	Upper extremity joint dislocation	124583	CANT1	ORPHA:1425
HP:0030310	Upper extremity joint dislocation	55790	CSGALNACT1	ORPHA:1425
HP:0030310	Upper extremity joint dislocation	3339	HSPG2	ORPHA:800
HP:0030310	Upper extremity joint dislocation	64093	SMOC1	ORPHA:1106
HP:0030310	Upper extremity joint dislocation	6910	TBX5	OMIM:142900
HP:0030310	Upper extremity joint dislocation	6473	SHOX	ORPHA:240
HP:0030310	Upper extremity joint dislocation	10082	GPC6	ORPHA:93329
HP:0030310	Upper extremity joint dislocation	2200	FBN1	ORPHA:2462
HP:0030310	Upper extremity joint dislocation	6497	SKI	ORPHA:2462
HP:0030310	Upper extremity joint dislocation	165	AEBP1	ORPHA:536532
HP:0030310	Upper extremity joint dislocation	2316	FLNA	ORPHA:90650
HP:0030310	Upper extremity joint dislocation	2316	FLNA	ORPHA:90652
HP:0030310	Upper extremity joint dislocation	11285	B4GALT7	OMIM:130070
HP:0030310	Upper extremity joint dislocation	1182	CLCN3	OMIM:619512
HP:0030310	Upper extremity joint dislocation	85301	COL27A1	OMIM:615155
HP:0030310	Upper extremity joint dislocation	2033	EP300	OMIM:180849
HP:0030310	Upper extremity joint dislocation	1387	CREBBP	OMIM:180849
HP:0030310	Upper extremity joint dislocation	4010	LMX1B	ORPHA:2614
HP:0030310	Upper extremity joint dislocation	6885	MAP3K7	OMIM:617137
HP:0030310	Upper extremity joint dislocation	6885	MAP3K7	ORPHA:1826
HP:0030310	Upper extremity joint dislocation	90459	ERI1	OMIM:620663
HP:0030310	Upper extremity joint dislocation	145258	GSC	OMIM:602471
HP:0030310	Upper extremity joint dislocation	10847	SRCAP	OMIM:136140
HP:0030310	Upper extremity joint dislocation	10847	SRCAP	ORPHA:2044
HP:0030310	Upper extremity joint dislocation	91179	SCARF2	OMIM:600920
HP:0030310	Upper extremity joint dislocation	23233	EXOC6B	OMIM:618395
HP:0030310	Upper extremity joint dislocation	2137	EXTL3	OMIM:617425
HP:0030310	Upper extremity joint dislocation	6662	SOX9	OMIM:114290
HP:0030310	Upper extremity joint dislocation	10225	CD96	OMIM:211750
HP:0030310	Upper extremity joint dislocation	10225	CD96	ORPHA:1308
HP:0030310	Upper extremity joint dislocation	2067	ERCC1	OMIM:610758
HP:0030310	Upper extremity joint dislocation	126792	B3GALT6	OMIM:271640
HP:0030310	Upper extremity joint dislocation	1146	CHRNG	OMIM:265000
HP:0030310	Upper extremity joint dislocation	3835	KIF22	OMIM:603546
HP:0030310	Upper extremity joint dislocation	57492	ARID1B	OMIM:135900
HP:0030310	Upper extremity joint dislocation	3899	AFF3	OMIM:619297
HP:0030310	Upper extremity joint dislocation	4853	NOTCH2	OMIM:102500
HP:0030310	Upper extremity joint dislocation	3897	L1CAM	OMIM:304100
HP:0030310	Upper extremity joint dislocation	171023	ASXL1	OMIM:605039
HP:0030310	Upper extremity joint dislocation	6913	TBX15	OMIM:260660
HP:0030310	Upper extremity joint dislocation	91252	SLC39A13	OMIM:612350
HP:0030310	Upper extremity joint dislocation	545	ATR	OMIM:210600
HP:0030310	Upper extremity joint dislocation	649	BMP1	OMIM:614856
HP:0030310	Upper extremity joint dislocation	29980	DONSON	OMIM:617604
HP:0030310	Upper extremity joint dislocation	5573	PRKAR1A	OMIM:101800
HP:0030310	Upper extremity joint dislocation	1277	COL1A1	ORPHA:287
HP:0030310	Upper extremity joint dislocation	1289	COL5A1	ORPHA:287
HP:0030310	Upper extremity joint dislocation	1290	COL5A2	ORPHA:287
HP:0030310	Upper extremity joint dislocation	375	ARF1	ORPHA:98892
HP:0030310	Upper extremity joint dislocation	4131	MAP1B	ORPHA:98892
HP:0030310	Upper extremity joint dislocation	23327	NEDD4L	ORPHA:98892
HP:0030310	Upper extremity joint dislocation	160418	TMTC3	ORPHA:98892
HP:0030310	Upper extremity joint dislocation	10564	ARFGEF2	ORPHA:98892
HP:0030310	Upper extremity joint dislocation	55780	ERMARD	ORPHA:98892
HP:0030310	Upper extremity joint dislocation	26229	B3GAT3	OMIM:245600
HP:0030310	Upper extremity joint dislocation	55768	NGLY1	ORPHA:404454
HP:0030310	Upper extremity joint dislocation	57167	SALL4	OMIM:607323
HP:0030310	Upper extremity joint dislocation	9935	MAFB	OMIM:166300
HP:0030310	Upper extremity joint dislocation	387733	IFITM5	OMIM:610967
HP:0030310	Upper extremity joint dislocation	4000	LMNA	OMIM:212112
HP:0030310	Upper extremity joint dislocation	1278	COL1A2	ORPHA:230851
HP:0030319	Weakness of facial musculature	4359	MPZ	OMIM:618184
HP:0030319	Weakness of facial musculature	8506	CNTNAP1	OMIM:618186
HP:0030319	Weakness of facial musculature	8506	CNTNAP1	OMIM:616286
HP:0030319	Weakness of facial musculature	112	ADCY6	OMIM:616287
HP:0030319	Weakness of facial musculature	2733	GLE1	OMIM:611890
HP:0030319	Weakness of facial musculature	1410	CRYAB	ORPHA:399058
HP:0030319	Weakness of facial musculature	19	ABCA1	OMIM:205400
HP:0030319	Weakness of facial musculature	19	ABCA1	ORPHA:31150
HP:0030319	Weakness of facial musculature	8803	SUCLA2	OMIM:612073
HP:0030319	Weakness of facial musculature	6472	SHMT2	OMIM:619121
HP:0030319	Weakness of facial musculature	10730	YME1L1	OMIM:617302
HP:0030319	Weakness of facial musculature	2218	FKTN	ORPHA:370980
HP:0030319	Weakness of facial musculature	729920	CRPPA	ORPHA:370980
HP:0030319	Weakness of facial musculature	1760	DMPK	OMIM:160900
HP:0030319	Weakness of facial musculature	9990	SLC12A6	OMIM:218000
HP:0030319	Weakness of facial musculature	4649	MYO9A	ORPHA:98914
HP:0030319	Weakness of facial musculature	1103	CHAT	ORPHA:98914
HP:0030319	Weakness of facial musculature	6576	SLC25A1	ORPHA:98914
HP:0030319	Weakness of facial musculature	6843	VAMP1	ORPHA:98914
HP:0030319	Weakness of facial musculature	6616	SNAP25	ORPHA:98914
HP:0030319	Weakness of facial musculature	10312	TCIRG1	OMIM:259700
HP:0030319	Weakness of facial musculature	27247	NFU1	OMIM:605711
HP:0030319	Weakness of facial musculature	1282	COL4A1	OMIM:175780
HP:0030319	Weakness of facial musculature	91574	MTRFR	OMIM:613559
HP:0030319	Weakness of facial musculature	1186	CLCN7	OMIM:166600
HP:0030319	Weakness of facial musculature	773	CACNA1A	ORPHA:569
HP:0030319	Weakness of facial musculature	112476	PRRT2	ORPHA:569
HP:0030319	Weakness of facial musculature	6323	SCN1A	ORPHA:569
HP:0030319	Weakness of facial musculature	477	ATP1A2	ORPHA:569
HP:0030319	Weakness of facial musculature	8600	TNFSF11	OMIM:259710
HP:0030319	Weakness of facial musculature	50964	SOST	OMIM:269500
HP:0030319	Weakness of facial musculature	50964	SOST	ORPHA:3416
HP:0030319	Weakness of facial musculature	50964	SOST	ORPHA:3152
HP:0030319	Weakness of facial musculature	274	BIN1	ORPHA:169186
HP:0030319	Weakness of facial musculature	274	BIN1	OMIM:255200
HP:0030319	Weakness of facial musculature	291	SLC25A4	ORPHA:254892
HP:0030319	Weakness of facial musculature	291	SLC25A4	OMIM:609283
HP:0030319	Weakness of facial musculature	11232	POLG2	ORPHA:254892
HP:0030319	Weakness of facial musculature	11232	POLG2	OMIM:610131
HP:0030319	Weakness of facial musculature	22827	PUF60	ORPHA:508498
HP:0030319	Weakness of facial musculature	2673	GFPT1	OMIM:608931
HP:0030319	Weakness of facial musculature	2673	GFPT1	ORPHA:353327
HP:0030319	Weakness of facial musculature	2673	GFPT1	OMIM:610542
HP:0030319	Weakness of facial musculature	1291	COL6A1	OMIM:254090
HP:0030319	Weakness of facial musculature	2138	EYA1	OMIM:113650
HP:0030319	Weakness of facial musculature	2138	EYA1	ORPHA:107
HP:0030319	Weakness of facial musculature	2138	EYA1	ORPHA:52429
HP:0030319	Weakness of facial musculature	6495	SIX1	OMIM:113650
HP:0030319	Weakness of facial musculature	6495	SIX1	ORPHA:107
HP:0030319	Weakness of facial musculature	6495	SIX1	ORPHA:52429
HP:0030319	Weakness of facial musculature	56203	LMOD3	OMIM:616165
HP:0030319	Weakness of facial musculature	56203	LMOD3	ORPHA:171436
HP:0030319	Weakness of facial musculature	56203	LMOD3	ORPHA:171430
HP:0030319	Weakness of facial musculature	2697	GJA1	ORPHA:1522
HP:0030319	Weakness of facial musculature	2697	GJA1	OMIM:218400
HP:0030319	Weakness of facial musculature	56172	ANKH	ORPHA:1522
HP:0030319	Weakness of facial musculature	56172	ANKH	OMIM:123000
HP:0030319	Weakness of facial musculature	1305	COL13A1	OMIM:616720
HP:0030319	Weakness of facial musculature	1305	COL13A1	ORPHA:98913
HP:0030319	Weakness of facial musculature	23394	ADNP	OMIM:615873
HP:0030319	Weakness of facial musculature	4038	LRP4	OMIM:614305
HP:0030319	Weakness of facial musculature	4038	LRP4	ORPHA:98913
HP:0030319	Weakness of facial musculature	4038	LRP4	ORPHA:3152
HP:0030319	Weakness of facial musculature	7415	VCP	OMIM:167320
HP:0030319	Weakness of facial musculature	825	CAPN3	OMIM:253600
HP:0030319	Weakness of facial musculature	57167	SALL4	OMIM:607323
HP:0030319	Weakness of facial musculature	79581	SLC52A2	OMIM:614707
HP:0030319	Weakness of facial musculature	10049	DNAJB6	OMIM:603511
HP:0030319	Weakness of facial musculature	1120	CHKB	OMIM:602541
HP:0030319	Weakness of facial musculature	57165	GJC2	OMIM:608804
HP:0030319	Weakness of facial musculature	29887	SNX10	OMIM:615085
HP:0030319	Weakness of facial musculature	10324	KLHL41	ORPHA:171436
HP:0030319	Weakness of facial musculature	10324	KLHL41	ORPHA:171433
HP:0030319	Weakness of facial musculature	10324	KLHL41	ORPHA:171430
HP:0030319	Weakness of facial musculature	60482	SLC5A7	OMIM:617143
HP:0030319	Weakness of facial musculature	29998	BICRA	OMIM:619325
HP:0030319	Weakness of facial musculature	131377	KLHL40	ORPHA:171430
HP:0030319	Weakness of facial musculature	131377	KLHL40	OMIM:615348
HP:0030319	Weakness of facial musculature	9790	BMS1	ORPHA:1114
HP:0030319	Weakness of facial musculature	5339	PLEC	ORPHA:1114
HP:0030319	Weakness of facial musculature	10054	UBA2	ORPHA:1114
HP:0030319	Weakness of facial musculature	3691	ITGB4	ORPHA:1114
HP:0030319	Weakness of facial musculature	54567	DLL4	ORPHA:1114
HP:0030319	Weakness of facial musculature	4041	LRP5	ORPHA:3416
HP:0030319	Weakness of facial musculature	4041	LRP5	ORPHA:2790
HP:0030319	Weakness of facial musculature	4041	LRP5	ORPHA:178377
HP:0030319	Weakness of facial musculature	55636	CHD7	ORPHA:138
HP:0030319	Weakness of facial musculature	55636	CHD7	OMIM:214800
HP:0030319	Weakness of facial musculature	9723	SEMA3E	ORPHA:138
HP:0030319	Weakness of facial musculature	3908	LAMA2	ORPHA:258
HP:0030319	Weakness of facial musculature	29925	GMPPB	ORPHA:353327
HP:0030319	Weakness of facial musculature	29925	GMPPB	ORPHA:370968
HP:0030319	Weakness of facial musculature	1798	DPAGT1	ORPHA:353327
HP:0030319	Weakness of facial musculature	199857	ALG14	ORPHA:353327
HP:0030319	Weakness of facial musculature	427	ASAH1	OMIM:159950
HP:0030319	Weakness of facial musculature	29954	POMT2	ORPHA:370968
HP:0030319	Weakness of facial musculature	29954	POMT2	OMIM:613156
HP:0030319	Weakness of facial musculature	9215	LARGE1	ORPHA:370968
HP:0030319	Weakness of facial musculature	9215	LARGE1	OMIM:608840
HP:0030319	Weakness of facial musculature	10585	POMT1	ORPHA:370968
HP:0030319	Weakness of facial musculature	10585	POMT1	OMIM:613155
HP:0030319	Weakness of facial musculature	51816	ADA2	OMIM:182410
HP:0030319	Weakness of facial musculature	5980	REV3L	ORPHA:570
HP:0030319	Weakness of facial musculature	23129	PLXND1	ORPHA:570
HP:0030319	Weakness of facial musculature	10735	STAG2	OMIM:301022
HP:0030319	Weakness of facial musculature	8878	SQSTM1	OMIM:617158
HP:0030319	Weakness of facial musculature	84665	MYPN	ORPHA:171881
HP:0030319	Weakness of facial musculature	84665	MYPN	OMIM:617336
HP:0030319	Weakness of facial musculature	10381	TUBB3	OMIM:600638
HP:0030319	Weakness of facial musculature	22954	TRIM32	OMIM:254110
HP:0030319	Weakness of facial musculature	56244	BTNL2	OMIM:612387
HP:0030319	Weakness of facial musculature	56244	BTNL2	ORPHA:797
HP:0030319	Weakness of facial musculature	1292	COL6A2	OMIM:255600
HP:0030319	Weakness of facial musculature	10020	GNE	ORPHA:602
HP:0030319	Weakness of facial musculature	7020	TFAP2A	OMIM:113620
HP:0030319	Weakness of facial musculature	51651	PTRH2	ORPHA:456312
HP:0030319	Weakness of facial musculature	390594	KBTBD13	OMIM:609273
HP:0030319	Weakness of facial musculature	139285	AMER1	ORPHA:2780
HP:0030319	Weakness of facial musculature	139285	AMER1	OMIM:300373
HP:0030319	Weakness of facial musculature	9531	BAG3	OMIM:612954
HP:0030319	Weakness of facial musculature	9244	CRLF1	OMIM:272430
HP:0030319	Weakness of facial musculature	113278	SLC52A3	OMIM:211530
HP:0030319	Weakness of facial musculature	3123	HLA-DRB1	ORPHA:797
HP:0030319	Weakness of facial musculature	84617	TUBB6	OMIM:617732
HP:0030319	Weakness of facial musculature	9791	PTDSS1	ORPHA:2658
HP:0030319	Weakness of facial musculature	8314	BAP1	ORPHA:2495
HP:0030319	Weakness of facial musculature	4771	NF2	ORPHA:2495
HP:0030319	Weakness of facial musculature	4771	NF2	ORPHA:637
HP:0030319	Weakness of facial musculature	6598	SMARCB1	ORPHA:2495
HP:0030319	Weakness of facial musculature	5155	PDGFB	ORPHA:2495
HP:0030319	Weakness of facial musculature	84231	TRAF7	ORPHA:2495
HP:0030319	Weakness of facial musculature	6608	SMO	ORPHA:2495
HP:0030319	Weakness of facial musculature	207	AKT1	ORPHA:2495
HP:0030319	Weakness of facial musculature	5290	PIK3CA	ORPHA:2495
HP:0030319	Weakness of facial musculature	7015	TERT	ORPHA:2495
HP:0030319	Weakness of facial musculature	51684	SUFU	ORPHA:2495
HP:0030319	Weakness of facial musculature	6605	SMARCE1	ORPHA:2495
HP:0030319	Weakness of facial musculature	3211	HOXB1	OMIM:614744
HP:0030319	Weakness of facial musculature	7040	TGFB1	ORPHA:1328
HP:0030319	Weakness of facial musculature	8085	KMT2D	OMIM:620186
HP:0030319	Weakness of facial musculature	80704	SLC19A3	OMIM:607483
HP:0030319	Weakness of facial musculature	147912	SIX5	ORPHA:107
HP:0030319	Weakness of facial musculature	8898	MTMR2	OMIM:601382
HP:0030319	Weakness of facial musculature	2934	GSN	ORPHA:85448
HP:0030319	Weakness of facial musculature	23095	KIF1B	OMIM:118210
HP:0030319	Weakness of facial musculature	8292	COLQ	ORPHA:98915
HP:0030319	Weakness of facial musculature	3913	LAMB2	ORPHA:98915
HP:0030319	Weakness of facial musculature	6444	SGCD	ORPHA:219
HP:0030319	Weakness of facial musculature	23516	SLC39A14	OMIM:144755
HP:0030319	Weakness of facial musculature	1140	CHRNB1	ORPHA:98913
HP:0030319	Weakness of facial musculature	1140	CHRNB1	OMIM:616313
HP:0030319	Weakness of facial musculature	5913	RAPSN	ORPHA:98913
HP:0030319	Weakness of facial musculature	221264	AK9	ORPHA:98913
HP:0030319	Weakness of facial musculature	55670	PEX26	ORPHA:772
HP:0030319	Weakness of facial musculature	5824	PEX19	ORPHA:772
HP:0030319	Weakness of facial musculature	5828	PEX2	ORPHA:772
HP:0030319	Weakness of facial musculature	8504	PEX3	ORPHA:772
HP:0030319	Weakness of facial musculature	9409	PEX16	ORPHA:772
HP:0030319	Weakness of facial musculature	5190	PEX6	ORPHA:772
HP:0030319	Weakness of facial musculature	8799	PEX11B	ORPHA:772
HP:0030319	Weakness of facial musculature	5830	PEX5	ORPHA:772
HP:0030319	Weakness of facial musculature	5189	PEX1	ORPHA:772
HP:0030319	Weakness of facial musculature	5193	PEX12	ORPHA:772
HP:0030319	Weakness of facial musculature	5194	PEX13	ORPHA:772
HP:0030319	Weakness of facial musculature	5195	PEX14	ORPHA:772
HP:0030319	Weakness of facial musculature	5192	PEX10	ORPHA:772
HP:0030319	Weakness of facial musculature	339855	KY	OMIM:617114
HP:0030319	Weakness of facial musculature	84168	ANTXR1	OMIM:230740
HP:0030319	Weakness of facial musculature	64127	NOD2	ORPHA:90340
HP:0030319	Weakness of facial musculature	8139	GAN	ORPHA:643
HP:0030319	Weakness of facial musculature	8139	GAN	OMIM:256850
HP:0030319	Weakness of facial musculature	28962	OSTM1	OMIM:259720
HP:0030319	Weakness of facial musculature	29089	UBE2T	OMIM:616435
HP:0030319	Weakness of facial musculature	203859	ANO5	OMIM:611307
HP:0030319	Weakness of facial musculature	203859	ANO5	ORPHA:206549
HP:0030319	Weakness of facial musculature	1861	TOR1A	OMIM:128100
HP:0030319	Weakness of facial musculature	59341	TRPV4	OMIM:181405
HP:0030319	Weakness of facial musculature	11198	SUPT16H	OMIM:619480
HP:0030319	Weakness of facial musculature	7516	XRCC2	OMIM:617247
HP:0030319	Weakness of facial musculature	3098	HK1	OMIM:618547
HP:0030319	Weakness of facial musculature	57190	SELENON	ORPHA:324604
HP:0030319	Weakness of facial musculature	57190	SELENON	ORPHA:2020
HP:0030319	Weakness of facial musculature	4625	MYH7	ORPHA:324604
HP:0030319	Weakness of facial musculature	7273	TTN	ORPHA:324604
HP:0030319	Weakness of facial musculature	7273	TTN	OMIM:611705
HP:0030319	Weakness of facial musculature	353116	RILPL1	OMIM:619790
HP:0030319	Weakness of facial musculature	353116	RILPL1	ORPHA:98897
HP:0030319	Weakness of facial musculature	55906	ZC4H2	OMIM:301041
HP:0030319	Weakness of facial musculature	8106	PABPN1	ORPHA:270
HP:0030319	Weakness of facial musculature	4574	MT-TS1	OMIM:220110
HP:0030319	Weakness of facial musculature	4570	MT-TN	OMIM:220110
HP:0030319	Weakness of facial musculature	6834	SURF1	OMIM:220110
HP:0030319	Weakness of facial musculature	4593	MUSK	OMIM:616325
HP:0030319	Weakness of facial musculature	50484	RRM2B	ORPHA:329336
HP:0030319	Weakness of facial musculature	246243	RNASEH1	ORPHA:329336
HP:0030319	Weakness of facial musculature	1145	CHRNE	OMIM:616324
HP:0030319	Weakness of facial musculature	1144	CHRND	OMIM:616323
HP:0030319	Weakness of facial musculature	5428	POLG	OMIM:258450
HP:0030319	Weakness of facial musculature	5428	POLG	OMIM:607459
HP:0030319	Weakness of facial musculature	1134	CHRNA1	OMIM:608930
HP:0030319	Weakness of facial musculature	7138	TNNT1	OMIM:620389
HP:0030319	Weakness of facial musculature	4703	NEB	OMIM:256030
HP:0030319	Weakness of facial musculature	4703	NEB	ORPHA:399103
HP:0030319	Weakness of facial musculature	58	ACTA1	OMIM:620265
HP:0030319	Weakness of facial musculature	58	ACTA1	OMIM:620278
HP:0030319	Weakness of facial musculature	58	ACTA1	ORPHA:2020
HP:0030319	Weakness of facial musculature	22947	DUX4L1	ORPHA:269
HP:0030319	Weakness of facial musculature	1789	DNMT3B	ORPHA:269
HP:0030319	Weakness of facial musculature	1789	DNMT3B	OMIM:619478
HP:0030319	Weakness of facial musculature	2483	FRG1	ORPHA:269
HP:0030319	Weakness of facial musculature	23347	SMCHD1	ORPHA:269
HP:0030319	Weakness of facial musculature	100288687	DUX4	ORPHA:269
HP:0030319	Weakness of facial musculature	7555	CNBP	OMIM:602668
HP:0030319	Weakness of facial musculature	7555	CNBP	ORPHA:606
HP:0030319	Weakness of facial musculature	3714	JAG2	OMIM:619566
HP:0030319	Weakness of facial musculature	375790	AGRN	OMIM:615120
HP:0030319	Weakness of facial musculature	101060691	NUTM2B-AS1	OMIM:618637
HP:0030319	Weakness of facial musculature	9200	HACD1	OMIM:619967
HP:0030319	Weakness of facial musculature	9200	HACD1	ORPHA:2020
HP:0030319	Weakness of facial musculature	10073	SNUPN	OMIM:620793
HP:0030319	Weakness of facial musculature	6263	RYR3	OMIM:620310
HP:0030319	Weakness of facial musculature	7125	TNNC2	OMIM:620161
HP:0030319	Weakness of facial musculature	10059	DNM1L	ORPHA:98673
HP:0030319	Weakness of facial musculature	4976	OPA1	ORPHA:98673
HP:0030319	Weakness of facial musculature	1146	CHRNG	OMIM:265000
HP:0030319	Weakness of facial musculature	79147	FKRP	OMIM:606612
HP:0030319	Weakness of facial musculature	7084	TK2	ORPHA:254875
HP:0030319	Weakness of facial musculature	7084	TK2	OMIM:617069
HP:0030319	Weakness of facial musculature	122622	ADSS1	OMIM:617030
HP:0030319	Weakness of facial musculature	122622	ADSS1	ORPHA:482601
HP:0030319	Weakness of facial musculature	1621	DBH	OMIM:223360
HP:0030319	Weakness of facial musculature	64207	IRF2BPL	OMIM:618088
HP:0030319	Weakness of facial musculature	23345	SYNE1	OMIM:618484
HP:0030319	Weakness of facial musculature	311	ANXA11	OMIM:619733
HP:0030319	Weakness of facial musculature	85365	ALG2	OMIM:616228
HP:0030319	Weakness of facial musculature	4151	MB	OMIM:620286
HP:0030319	Weakness of facial musculature	1339	COX6A2	OMIM:619062
HP:0030319	Weakness of facial musculature	4633	MYL2	ORPHA:2020
HP:0030319	Weakness of facial musculature	3679	ITGA7	ORPHA:2020
HP:0030319	Weakness of facial musculature	7169	TPM2	ORPHA:2020
HP:0030319	Weakness of facial musculature	7170	TPM3	ORPHA:2020
HP:0030319	Weakness of facial musculature	51776	MAP3K20	ORPHA:2020
HP:0030319	Weakness of facial musculature	88	ACTN2	OMIM:618654
HP:0030319	Weakness of facial musculature	127833	SYT2	OMIM:619461
HP:0030319	Weakness of facial musculature	4632	MYL1	OMIM:618414
HP:0030319	Weakness of facial musculature	89874	SLC25A21	OMIM:618811
HP:0030319	Weakness of facial musculature	79731	NARS2	OMIM:616239
HP:0030319	Weakness of facial musculature	284439	SLC25A42	OMIM:618416
HP:0030319	Weakness of facial musculature	55154	MSTO1	ORPHA:502423
HP:0030319	Weakness of facial musculature	4747	NEFL	ORPHA:101085
HP:0030319	Weakness of facial musculature	10755	GIPC1	ORPHA:98897
HP:0030319	Weakness of facial musculature	10755	GIPC1	OMIM:618940
HP:0030319	Weakness of facial musculature	29967	LRP12	ORPHA:98897
HP:0030319	Weakness of facial musculature	100996717	NOTCH2NLC	ORPHA:98897
HP:0030319	Weakness of facial musculature	100996717	NOTCH2NLC	OMIM:619473
HP:0030319	Weakness of facial musculature	4534	MTM1	ORPHA:596
HP:0030319	Weakness of facial musculature	9997	SCO2	OMIM:604377
HP:0030319	Weakness of facial musculature	253738	EBF3	OMIM:617330
HP:0030319	Weakness of facial musculature	55791	LRIF1	OMIM:619477
HP:0030319	Weakness of facial musculature	35	ACADS	OMIM:201470
HP:0030319	Weakness of facial musculature	57863	CADM3	OMIM:619519
HP:0030319	Weakness of facial musculature	2318	FLNC	ORPHA:63273
HP:0030319	Weakness of facial musculature	2318	FLNC	ORPHA:171445
HP:0030319	Weakness of facial musculature	400916	CHCHD10	ORPHA:457050
HP:0030319	Weakness of facial musculature	10290	SPEG	OMIM:615959
HP:0030319	Weakness of facial musculature	1639	DCTN1	OMIM:607641
HP:0030319	Weakness of facial musculature	9289	ADGRG1	ORPHA:98889
HP:0030319	Weakness of facial musculature	5297	PI4KA	ORPHA:98889
HP:0030319	Weakness of facial musculature	27286	SRPX2	ORPHA:98889
HP:0030319	Weakness of facial musculature	92667	MGME1	ORPHA:352447
HP:0030319	Weakness of facial musculature	1303	COL12A1	ORPHA:536516
HP:0030319	Weakness of facial musculature	64419	MTMR14	OMIM:160150
HP:0030319	Weakness of facial musculature	1785	DNM2	OMIM:160150
HP:0030319	Weakness of facial musculature	6261	RYR1	OMIM:117000
HP:0030319	Weakness of facial musculature	6261	RYR1	OMIM:619542
HP:0030319	Weakness of facial musculature	23529	CLCF1	OMIM:610313
HP:0030319	Weakness of facial musculature	6329	SCN4A	OMIM:620351
HP:0030319	Weakness of facial musculature	6329	SCN4A	OMIM:620369
HP:0030319	Weakness of facial musculature	8565	YARS1	OMIM:619418
HP:0030319	Weakness of facial musculature	6572	SLC18A3	OMIM:617239
HP:0030319	Weakness of facial musculature	6240	RRM1	OMIM:620647
HP:0030319	Weakness of facial musculature	1674	DES	ORPHA:98909
HP:0030319	Weakness of facial musculature	1674	DES	OMIM:181400
HP:0030319	Weakness of facial musculature	7317	UBA1	ORPHA:1145
HP:0030319	Weakness of facial musculature	84466	MEGF10	OMIM:620249
HP:0030319	Weakness of facial musculature	1073	CFL2	OMIM:610687
HP:0030319	Weakness of facial musculature	81846	SBF2	ORPHA:99956
HP:0030319	Weakness of facial musculature	57731	SPTBN4	OMIM:617519
HP:0030319	Weakness of facial musculature	4556	MT-TE	ORPHA:2596
HP:0030319	Weakness of facial musculature	56652	TWNK	OMIM:607459
HP:0030319	Weakness of facial musculature	11277	TREX1	ORPHA:247691
HP:0030319	Weakness of facial musculature	101929726	MYMX	OMIM:619941
HP:0030319	Weakness of facial musculature	54332	GDAP1	ORPHA:99948
HP:0030319	Weakness of facial musculature	79628	SH3TC2	ORPHA:99949
HP:0030319	Weakness of facial musculature	389827	MYMK	OMIM:254940
HP:0030319	Weakness of facial musculature	246329	STAC3	OMIM:255995
HP:0030319	Weakness of facial musculature	285489	DOK7	OMIM:254300
HP:0030319	Weakness of facial musculature	3708	ITPR1	OMIM:117360
HP:0030318	Angular cheilitis	23308	ICOSLG	OMIM:620825
HP:0030318	Angular cheilitis	10804	GJB6	ORPHA:477
HP:0030318	Angular cheilitis	2706	GJB2	ORPHA:477
HP:0030318	Angular cheilitis	8029	CUBN	ORPHA:35858
HP:0030318	Angular cheilitis	81693	AMN	ORPHA:35858
HP:0030318	Angular cheilitis	1825	DSC3	OMIM:613102
HP:0030318	Angular cheilitis	3872	KRT17	OMIM:167210
HP:0030318	Angular cheilitis	3872	KRT17	ORPHA:2309
HP:0030318	Angular cheilitis	164656	TMPRSS6	ORPHA:209981
HP:0030318	Angular cheilitis	831	CAST	OMIM:616295
HP:0030318	Angular cheilitis	3868	KRT16	ORPHA:2309
HP:0030318	Angular cheilitis	3853	KRT6A	ORPHA:2309
HP:0030318	Angular cheilitis	3854	KRT6B	ORPHA:2309
HP:0030318	Angular cheilitis	6720	SREBF1	OMIM:619016
HP:0030325	Cervicomedullary schisis	392255	GDF6	OMIM:118100
HP:0030323	Unilateral vertebral artery hypoplasia	84667	HES7	OMIM:613686
HP:0030322	Vertebral artery hypoplasia	84667	HES7	OMIM:613686
HP:0030321	Abnormal vertebral artery morphology	92949	ADAMTSL1	ORPHA:521445
HP:0030321	Abnormal vertebral artery morphology	84667	HES7	OMIM:613686
HP:0030321	Abnormal vertebral artery morphology	4087	SMAD2	OMIM:619656
HP:0030321	Abnormal vertebral artery morphology	1289	COL5A1	OMIM:619329
HP:0030320	Increased intervertebral space	2137	EXTL3	ORPHA:508533
HP:0030320	Increased intervertebral space	2137	EXTL3	OMIM:617425
HP:0030320	Increased intervertebral space	79639	TMEM53	OMIM:619727
HP:0030320	Increased intervertebral space	54	ACP5	OMIM:607944
HP:0030320	Increased intervertebral space	1836	SLC26A2	OMIM:256050
HP:0030320	Increased intervertebral space	5331	PLCB3	OMIM:618961
HP:0030320	Increased intervertebral space	59341	TRPV4	ORPHA:93314
HP:0030329	Retinal thinning	3105	HLA-A	ORPHA:179
HP:0030329	Retinal thinning	1280	COL2A1	OMIM:132450
HP:0030329	Retinal thinning	9699	RIMS2	OMIM:618970
HP:0030329	Retinal thinning	5130	PCYT1A	ORPHA:85167
HP:0030329	Retinal thinning	5130	PCYT1A	OMIM:608940
HP:0030329	Retinal thinning	55624	POMGNT1	OMIM:617123
HP:0030329	Retinal thinning	284217	LAMA1	OMIM:615960
HP:0030329	Retinal thinning	285440	CYP4V2	ORPHA:41751
HP:0030329	Retinal thinning	8842	PROM1	ORPHA:827
HP:0030329	Retinal thinning	5961	PRPH2	ORPHA:827
HP:0030329	Retinal thinning	6785	ELOVL4	ORPHA:827
HP:0030329	Retinal thinning	24	ABCA4	ORPHA:827
HP:0030329	Retinal thinning	54714	CNGB3	ORPHA:827
HP:0030329	Retinal thinning	6295	SAG	OMIM:620228
HP:0030329	Retinal thinning	6295	SAG	ORPHA:215
HP:0030329	Retinal thinning	1261	CNGA3	OMIM:216900
HP:0030329	Retinal thinning	157657	CFAP418	OMIM:617406
HP:0030329	Retinal thinning	9371	KIF3B	OMIM:618955
HP:0030329	Retinal thinning	6533	SLC6A6	OMIM:145350
HP:0030329	Retinal thinning	57096	RPGRIP1	OMIM:613826
HP:0030329	Retinal thinning	4308	TRPM1	ORPHA:215
HP:0030329	Retinal thinning	57010	CABP4	ORPHA:215
HP:0030329	Retinal thinning	345193	LRIT3	ORPHA:215
HP:0030329	Retinal thinning	93589	CACNA2D4	ORPHA:215
HP:0030329	Retinal thinning	2916	GRM6	ORPHA:215
HP:0030329	Retinal thinning	5158	PDE6B	ORPHA:215
HP:0030329	Retinal thinning	440435	GPR179	ORPHA:215
HP:0030329	Retinal thinning	6011	GRK1	ORPHA:215
HP:0030329	Retinal thinning	778	CACNA1F	ORPHA:215
HP:0030329	Retinal thinning	6010	RHO	ORPHA:215
HP:0030329	Retinal thinning	9187	SLC24A1	ORPHA:215
HP:0030329	Retinal thinning	2784	GNB3	ORPHA:215
HP:0030329	Retinal thinning	2779	GNAT1	ORPHA:215
HP:0030329	Retinal thinning	60506	NYX	ORPHA:215
HP:0030329	Retinal thinning	224	ALDH3A2	OMIM:270200
HP:0030328	Decreased osteoclast count	8600	TNFSF11	OMIM:259710
HP:0030328	Decreased osteoclast count	28962	OSTM1	OMIM:259720
HP:0001070	Mottled pigmentation	50506	DUOX2	ORPHA:226316
HP:0001070	Mottled pigmentation	4000	LMNA	OMIM:248370
HP:0001070	Mottled pigmentation	4000	LMNA	OMIM:151660
HP:0001070	Mottled pigmentation	10269	ZMPSTE24	OMIM:608612
HP:0001070	Mottled pigmentation	9401	RECQL4	OMIM:266280
HP:0001070	Mottled pigmentation	3852	KRT5	ORPHA:79397
HP:0001070	Mottled pigmentation	3861	KRT14	ORPHA:79397
HP:0001070	Mottled pigmentation	84946	LTV1	OMIM:620199
HP:0001070	Mottled pigmentation	3248	HPGD	ORPHA:1525
HP:0001071	Angiokeratoma corporis diffusum	4668	NAGA	ORPHA:79280
HP:0001071	Angiokeratoma corporis diffusum	4668	NAGA	OMIM:609242
HP:0001071	Angiokeratoma corporis diffusum	175	AGA	OMIM:208400
HP:0001071	Angiokeratoma corporis diffusum	2720	GLB1	OMIM:230500
HP:0001071	Angiokeratoma corporis diffusum	2717	GLA	OMIM:301500
HP:0001073	Cigarette-paper scars	1281	COL3A1	OMIM:130050
HP:0001073	Cigarette-paper scars	1281	COL3A1	ORPHA:286
HP:0001073	Cigarette-paper scars	1277	COL1A1	ORPHA:287
HP:0001073	Cigarette-paper scars	1289	COL5A1	ORPHA:287
HP:0001073	Cigarette-paper scars	1289	COL5A1	OMIM:130000
HP:0001073	Cigarette-paper scars	1290	COL5A2	ORPHA:287
HP:0001073	Cigarette-paper scars	1290	COL5A2	OMIM:130010
HP:0001073	Cigarette-paper scars	1303	COL12A1	ORPHA:610
HP:0001073	Cigarette-paper scars	1291	COL6A1	ORPHA:610
HP:0001073	Cigarette-paper scars	1292	COL6A2	ORPHA:610
HP:0001073	Cigarette-paper scars	1293	COL6A3	ORPHA:610
HP:0001073	Cigarette-paper scars	1075	CTSC	ORPHA:678
HP:0001073	Cigarette-paper scars	91252	SLC39A13	OMIM:612350
HP:0001074	Atypical nevi in non-sun exposed areas	1019	CDK4	OMIM:609048
HP:0001074	Atypical nevi in non-sun exposed areas	5573	PRKAR1A	ORPHA:1359
HP:0001074	Atypical nevi in non-sun exposed areas	50940	PDE11A	ORPHA:1359
HP:0001074	Atypical nevi in non-sun exposed areas	673	BRAF	OMIM:155600
HP:0001074	Atypical nevi in non-sun exposed areas	6794	STK11	OMIM:155600
HP:0001075	Atrophic scars	1291	COL6A1	ORPHA:610
HP:0001075	Atrophic scars	1292	COL6A2	ORPHA:610
HP:0001075	Atrophic scars	1293	COL6A3	ORPHA:610
HP:0001075	Atrophic scars	1075	CTSC	ORPHA:678
HP:0001075	Atrophic scars	91252	SLC39A13	OMIM:612350
HP:0001075	Atrophic scars	11285	B4GALT7	ORPHA:75496
HP:0001075	Atrophic scars	11285	B4GALT7	OMIM:130070
HP:0001075	Atrophic scars	1281	COL3A1	OMIM:618343
HP:0001075	Atrophic scars	3691	ITGB4	OMIM:226730
HP:0001075	Atrophic scars	3691	ITGB4	ORPHA:158684
HP:0001075	Atrophic scars	3691	ITGB4	ORPHA:79402
HP:0001075	Atrophic scars	5339	PLEC	OMIM:226730
HP:0001075	Atrophic scars	5339	PLEC	ORPHA:158684
HP:0001075	Atrophic scars	3852	KRT5	OMIM:131760
HP:0001075	Atrophic scars	3852	KRT5	ORPHA:79400
HP:0001075	Atrophic scars	3852	KRT5	ORPHA:79396
HP:0001075	Atrophic scars	3861	KRT14	OMIM:131760
HP:0001075	Atrophic scars	3861	KRT14	ORPHA:89838
HP:0001075	Atrophic scars	3861	KRT14	ORPHA:79400
HP:0001075	Atrophic scars	3861	KRT14	ORPHA:79396
HP:0001075	Atrophic scars	1278	COL1A2	OMIM:225320
HP:0001075	Atrophic scars	1278	COL1A2	ORPHA:230851
HP:0001075	Atrophic scars	1278	COL1A2	OMIM:617821
HP:0001075	Atrophic scars	7058	THBS2	OMIM:620865
HP:0001075	Atrophic scars	4035	LRP1	ORPHA:79100
HP:0001075	Atrophic scars	1308	COL17A1	ORPHA:79406
HP:0001075	Atrophic scars	1308	COL17A1	ORPHA:79402
HP:0001075	Atrophic scars	113189	CHST14	OMIM:601776
HP:0001075	Atrophic scars	113189	CHST14	ORPHA:2953
HP:0001075	Atrophic scars	4312	MMP1	ORPHA:79408
HP:0001075	Atrophic scars	1294	COL7A1	ORPHA:79408
HP:0001075	Atrophic scars	1294	COL7A1	ORPHA:79409
HP:0001075	Atrophic scars	1294	COL7A1	OMIM:226600
HP:0001075	Atrophic scars	1294	COL7A1	OMIM:131850
HP:0001075	Atrophic scars	1294	COL7A1	ORPHA:89843
HP:0001075	Atrophic scars	1294	COL7A1	ORPHA:79410
HP:0001075	Atrophic scars	1294	COL7A1	ORPHA:79411
HP:0001075	Atrophic scars	1294	COL7A1	ORPHA:231568
HP:0001075	Atrophic scars	1294	COL7A1	OMIM:131750
HP:0001075	Atrophic scars	1294	COL7A1	OMIM:131705
HP:0001075	Atrophic scars	715	C1R	OMIM:130080
HP:0001075	Atrophic scars	715	C1R	ORPHA:75392
HP:0001075	Atrophic scars	55033	FKBP14	OMIM:614557
HP:0001075	Atrophic scars	55033	FKBP14	ORPHA:300179
HP:0001075	Atrophic scars	1289	COL5A1	OMIM:619329
HP:0001075	Atrophic scars	1289	COL5A1	ORPHA:287
HP:0001075	Atrophic scars	51816	ADA2	OMIM:182410
HP:0001075	Atrophic scars	126792	B3GALT6	ORPHA:536467
HP:0001075	Atrophic scars	126792	B3GALT6	OMIM:615349
HP:0001075	Atrophic scars	716	C1S	ORPHA:75392
HP:0001075	Atrophic scars	1290	COL5A2	OMIM:130010
HP:0001075	Atrophic scars	1290	COL5A2	ORPHA:287
HP:0001075	Atrophic scars	165	AEBP1	OMIM:618000
HP:0001075	Atrophic scars	29940	DSE	ORPHA:2953
HP:0001075	Atrophic scars	29940	DSE	OMIM:615539
HP:0001075	Atrophic scars	4088	SMAD3	OMIM:613795
HP:0001075	Atrophic scars	5351	PLOD1	ORPHA:1900
HP:0001075	Atrophic scars	3909	LAMA3	ORPHA:79402
HP:0001075	Atrophic scars	3909	LAMA3	OMIM:226700
HP:0001075	Atrophic scars	3918	LAMC2	ORPHA:79402
HP:0001075	Atrophic scars	3918	LAMC2	OMIM:226700
HP:0001075	Atrophic scars	3914	LAMB3	ORPHA:79402
HP:0001075	Atrophic scars	3914	LAMB3	OMIM:226700
HP:0001075	Atrophic scars	1277	COL1A1	ORPHA:287
HP:0001075	Atrophic scars	1277	COL1A1	OMIM:130060
HP:0001075	Atrophic scars	7148	TNXB	OMIM:606408
HP:0001075	Atrophic scars	9509	ADAMTS2	OMIM:225410
HP:0001075	Atrophic scars	1303	COL12A1	OMIM:616471
HP:0001075	Atrophic scars	146206	CARMIL2	OMIM:618131
HP:0001075	Atrophic scars	667	DST	OMIM:615425
HP:0001076	Glabellar hemangioma	2535	FZD2	OMIM:164745
HP:0001076	Glabellar hemangioma	22800	RRAS2	OMIM:618624
HP:0001076	Glabellar hemangioma	1836	SLC26A2	OMIM:222600
HP:0001076	Glabellar hemangioma	6909	TBX2	OMIM:618223
HP:0004334	Dermal atrophy	4088	SMAD3	ORPHA:284984
HP:0004334	Dermal atrophy	4088	SMAD3	OMIM:613795
HP:0004334	Dermal atrophy	4088	SMAD3	ORPHA:60030
HP:0004334	Dermal atrophy	8450	CUL4B	OMIM:300354
HP:0004334	Dermal atrophy	84196	USP48	ORPHA:96253
HP:0004334	Dermal atrophy	7157	TP53	ORPHA:96253
HP:0004334	Dermal atrophy	7157	TP53	ORPHA:1501
HP:0004334	Dermal atrophy	9101	USP8	ORPHA:96253
HP:0004334	Dermal atrophy	9101	USP8	OMIM:219090
HP:0004334	Dermal atrophy	64072	CDH23	ORPHA:96253
HP:0004334	Dermal atrophy	2908	NR3C1	ORPHA:96253
HP:0004334	Dermal atrophy	673	BRAF	ORPHA:96253
HP:0004334	Dermal atrophy	546	ATRX	ORPHA:96253
HP:0004334	Dermal atrophy	23013	SPEN	OMIM:619312
HP:0004334	Dermal atrophy	2200	FBN1	OMIM:154700
HP:0004334	Dermal atrophy	2200	FBN1	OMIM:129600
HP:0004334	Dermal atrophy	2200	FBN1	OMIM:608328
HP:0004334	Dermal atrophy	2200	FBN1	OMIM:604308
HP:0004334	Dermal atrophy	57680	CHD8	OMIM:615032
HP:0004334	Dermal atrophy	1315	COPB1	OMIM:619255
HP:0004334	Dermal atrophy	80204	FBXO11	OMIM:618089
HP:0004334	Dermal atrophy	4087	SMAD2	OMIM:619656
HP:0004334	Dermal atrophy	4087	SMAD2	ORPHA:60030
HP:0004334	Dermal atrophy	2778	GNAS	OMIM:219080
HP:0004334	Dermal atrophy	2778	GNAS	ORPHA:189427
HP:0004334	Dermal atrophy	7048	TGFBR2	OMIM:610168
HP:0004334	Dermal atrophy	7048	TGFBR2	ORPHA:60030
HP:0004334	Dermal atrophy	5573	PRKAR1A	OMIM:610489
HP:0004334	Dermal atrophy	5573	PRKAR1A	ORPHA:1501
HP:0004334	Dermal atrophy	5573	PRKAR1A	ORPHA:1359
HP:0004334	Dermal atrophy	84133	ZNRF3	ORPHA:1501
HP:0004334	Dermal atrophy	1499	CTNNB1	ORPHA:1501
HP:0004334	Dermal atrophy	1029	CDKN2A	ORPHA:1501
HP:0004334	Dermal atrophy	1277	COL1A1	ORPHA:287
HP:0004334	Dermal atrophy	1289	COL5A1	ORPHA:287
HP:0004334	Dermal atrophy	1289	COL5A1	OMIM:619329
HP:0004334	Dermal atrophy	1290	COL5A2	ORPHA:287
HP:0004334	Dermal atrophy	7148	TNXB	OMIM:606408
HP:0004334	Dermal atrophy	633	BGN	OMIM:300989
HP:0004334	Dermal atrophy	4015	LOX	OMIM:617168
HP:0004334	Dermal atrophy	1742	DLG4	OMIM:618793
HP:0004334	Dermal atrophy	7046	TGFBR1	ORPHA:60030
HP:0004334	Dermal atrophy	7046	TGFBR1	OMIM:609192
HP:0004334	Dermal atrophy	10526	IPO8	ORPHA:60030
HP:0004334	Dermal atrophy	7042	TGFB2	ORPHA:60030
HP:0004334	Dermal atrophy	7042	TGFB2	OMIM:614816
HP:0004334	Dermal atrophy	7043	TGFB3	ORPHA:60030
HP:0004334	Dermal atrophy	79798	ARMC5	ORPHA:189427
HP:0004334	Dermal atrophy	23028	KDM1A	ORPHA:189427
HP:0004334	Dermal atrophy	50940	PDE11A	OMIM:610475
HP:0004334	Dermal atrophy	50940	PDE11A	ORPHA:1359
HP:0004334	Dermal atrophy	9049	AIP	OMIM:219090
HP:0004334	Dermal atrophy	5167	ENPP1	ORPHA:758
HP:0004334	Dermal atrophy	368	ABCC6	ORPHA:758
HP:0004334	Dermal atrophy	1291	COL6A1	ORPHA:610
HP:0004334	Dermal atrophy	1292	COL6A2	ORPHA:610
HP:0004334	Dermal atrophy	1293	COL6A3	ORPHA:610
HP:0004334	Dermal atrophy	1075	CTSC	ORPHA:678
HP:0004334	Dermal atrophy	91252	SLC39A13	OMIM:612350
HP:0004334	Dermal atrophy	11285	B4GALT7	ORPHA:75496
HP:0004334	Dermal atrophy	11285	B4GALT7	OMIM:130070
HP:0004334	Dermal atrophy	1281	COL3A1	OMIM:618343
HP:0004334	Dermal atrophy	3691	ITGB4	OMIM:226730
HP:0004334	Dermal atrophy	3691	ITGB4	ORPHA:158684
HP:0004334	Dermal atrophy	3691	ITGB4	ORPHA:79402
HP:0004334	Dermal atrophy	3852	KRT5	OMIM:131760
HP:0004334	Dermal atrophy	3852	KRT5	ORPHA:79400
HP:0004334	Dermal atrophy	3852	KRT5	ORPHA:79396
HP:0004334	Dermal atrophy	3861	KRT14	OMIM:131760
HP:0004334	Dermal atrophy	3861	KRT14	ORPHA:89838
HP:0004334	Dermal atrophy	3861	KRT14	ORPHA:79400
HP:0004334	Dermal atrophy	3861	KRT14	ORPHA:79396
HP:0004334	Dermal atrophy	1278	COL1A2	OMIM:225320
HP:0004334	Dermal atrophy	1278	COL1A2	ORPHA:230851
HP:0004334	Dermal atrophy	1278	COL1A2	OMIM:617821
HP:0004334	Dermal atrophy	7058	THBS2	OMIM:620865
HP:0004334	Dermal atrophy	4035	LRP1	ORPHA:79100
HP:0004334	Dermal atrophy	1308	COL17A1	ORPHA:79406
HP:0004334	Dermal atrophy	1308	COL17A1	ORPHA:79402
HP:0004334	Dermal atrophy	113189	CHST14	OMIM:601776
HP:0004334	Dermal atrophy	113189	CHST14	ORPHA:2953
HP:0004334	Dermal atrophy	4312	MMP1	ORPHA:79408
HP:0004334	Dermal atrophy	715	C1R	OMIM:130080
HP:0004334	Dermal atrophy	715	C1R	ORPHA:75392
HP:0004334	Dermal atrophy	55033	FKBP14	OMIM:614557
HP:0004334	Dermal atrophy	55033	FKBP14	ORPHA:300179
HP:0004334	Dermal atrophy	51816	ADA2	OMIM:182410
HP:0004334	Dermal atrophy	126792	B3GALT6	ORPHA:536467
HP:0004334	Dermal atrophy	126792	B3GALT6	OMIM:615349
HP:0004334	Dermal atrophy	716	C1S	ORPHA:75392
HP:0004334	Dermal atrophy	165	AEBP1	OMIM:618000
HP:0004334	Dermal atrophy	29940	DSE	ORPHA:2953
HP:0004334	Dermal atrophy	29940	DSE	OMIM:615539
HP:0004334	Dermal atrophy	5351	PLOD1	ORPHA:1900
HP:0004334	Dermal atrophy	3909	LAMA3	ORPHA:79402
HP:0004334	Dermal atrophy	3909	LAMA3	OMIM:226700
HP:0004334	Dermal atrophy	3918	LAMC2	ORPHA:79402
HP:0004334	Dermal atrophy	3918	LAMC2	OMIM:226700
HP:0004334	Dermal atrophy	3914	LAMB3	ORPHA:79402
HP:0004334	Dermal atrophy	3914	LAMB3	OMIM:226700
HP:0004334	Dermal atrophy	9509	ADAMTS2	OMIM:225410
HP:0004334	Dermal atrophy	1303	COL12A1	OMIM:616471
HP:0004334	Dermal atrophy	146206	CARMIL2	OMIM:618131
HP:0004334	Dermal atrophy	667	DST	OMIM:615425
HP:0004334	Dermal atrophy	2074	ERCC6	OMIM:133540
HP:0004334	Dermal atrophy	2074	ERCC6	OMIM:278800
HP:0004334	Dermal atrophy	64840	PORCN	OMIM:305600
HP:0004334	Dermal atrophy	64840	PORCN	ORPHA:2092
HP:0004334	Dermal atrophy	10269	ZMPSTE24	OMIM:608612
HP:0004334	Dermal atrophy	10269	ZMPSTE24	ORPHA:740
HP:0004334	Dermal atrophy	10269	ZMPSTE24	ORPHA:90154
HP:0004334	Dermal atrophy	10269	ZMPSTE24	ORPHA:1662
HP:0004334	Dermal atrophy	54800	KLHL24	OMIM:617294
HP:0004334	Dermal atrophy	1643	DDB2	OMIM:278740
HP:0004334	Dermal atrophy	1643	DDB2	ORPHA:910
HP:0004334	Dermal atrophy	9401	RECQL4	ORPHA:221016
HP:0004334	Dermal atrophy	9401	RECQL4	OMIM:268400
HP:0004334	Dermal atrophy	9401	RECQL4	OMIM:218600
HP:0004334	Dermal atrophy	117581	TWIST2	OMIM:209885
HP:0004334	Dermal atrophy	1736	DKC1	OMIM:305000
HP:0004334	Dermal atrophy	1736	DKC1	ORPHA:3322
HP:0004334	Dermal atrophy	7507	XPA	OMIM:278700
HP:0004334	Dermal atrophy	7507	XPA	ORPHA:910
HP:0004334	Dermal atrophy	79650	USB1	OMIM:604173
HP:0004334	Dermal atrophy	4000	LMNA	ORPHA:740
HP:0004334	Dermal atrophy	4000	LMNA	OMIM:248370
HP:0004334	Dermal atrophy	4000	LMNA	ORPHA:90153
HP:0004334	Dermal atrophy	4000	LMNA	ORPHA:1662
HP:0004334	Dermal atrophy	1718	DHCR24	ORPHA:35107
HP:0004334	Dermal atrophy	5159	PDGFRB	OMIM:601812
HP:0004334	Dermal atrophy	4256	MGP	ORPHA:85202
HP:0004334	Dermal atrophy	1294	COL7A1	ORPHA:158673
HP:0004334	Dermal atrophy	1294	COL7A1	ORPHA:89843
HP:0004334	Dermal atrophy	54345	SOX18	ORPHA:69735
HP:0004334	Dermal atrophy	5429	POLH	OMIM:278750
HP:0004334	Dermal atrophy	5429	POLH	ORPHA:90342
HP:0004334	Dermal atrophy	2068	ERCC2	ORPHA:220295
HP:0004334	Dermal atrophy	2068	ERCC2	OMIM:278730
HP:0004334	Dermal atrophy	2068	ERCC2	ORPHA:910
HP:0004334	Dermal atrophy	2073	ERCC5	ORPHA:220295
HP:0004334	Dermal atrophy	2073	ERCC5	ORPHA:910
HP:0004334	Dermal atrophy	2072	ERCC4	ORPHA:220295
HP:0004334	Dermal atrophy	2072	ERCC4	OMIM:610965
HP:0004334	Dermal atrophy	2072	ERCC4	ORPHA:910
HP:0004334	Dermal atrophy	2071	ERCC3	ORPHA:220295
HP:0004334	Dermal atrophy	2071	ERCC3	OMIM:610651
HP:0004334	Dermal atrophy	2071	ERCC3	ORPHA:910
HP:0004334	Dermal atrophy	55612	FERMT1	OMIM:173650
HP:0004334	Dermal atrophy	7486	WRN	OMIM:277700
HP:0004334	Dermal atrophy	26277	TINF2	OMIM:127550
HP:0004334	Dermal atrophy	26277	TINF2	ORPHA:3322
HP:0004334	Dermal atrophy	7012	TERC	OMIM:127550
HP:0004334	Dermal atrophy	7015	TERT	OMIM:127550
HP:0004334	Dermal atrophy	7015	TERT	ORPHA:3322
HP:0004334	Dermal atrophy	8626	TP63	OMIM:103285
HP:0004334	Dermal atrophy	5339	PLEC	ORPHA:257
HP:0004334	Dermal atrophy	51750	RTEL1	ORPHA:3322
HP:0004334	Dermal atrophy	65057	ACD	ORPHA:3322
HP:0004334	Dermal atrophy	5073	PARN	ORPHA:3322
HP:0004334	Dermal atrophy	7508	XPC	OMIM:278720
HP:0004334	Dermal atrophy	7508	XPC	ORPHA:910
HP:0004334	Dermal atrophy	54539	NDUFB11	ORPHA:2556
HP:0004334	Dermal atrophy	1349	COX7B	ORPHA:2556
HP:0004334	Dermal atrophy	3052	HCCS	ORPHA:2556
HP:0004334	Dermal atrophy	7020	TFAP2A	OMIM:113620
HP:0004334	Dermal atrophy	5424	POLD1	OMIM:615381
HP:0004334	Dermal atrophy	84181	CHD6	ORPHA:2108
HP:0004334	Dermal atrophy	64682	ANAPC1	ORPHA:221008
HP:0004334	Dermal atrophy	1493	CTLA4	ORPHA:2584
HP:0004334	Dermal atrophy	940	CD28	ORPHA:2584
HP:0004334	Dermal atrophy	7133	TNFRSF1B	ORPHA:2584
HP:0004334	Dermal atrophy	2934	GSN	ORPHA:85448
HP:0009775	Amniotic constriction ring	4014	LORICRIN	OMIM:604117
HP:0009775	Amniotic constriction ring	51371	POMP	OMIM:601952
HP:0009775	Amniotic constriction ring	2706	GJB2	ORPHA:494
HP:0009775	Amniotic constriction ring	2706	GJB2	OMIM:124500
HP:0009775	Amniotic constriction ring	8626	TP63	ORPHA:1072
HP:0009775	Amniotic constriction ring	162514	TRPV3	OMIM:614594
HP:0009775	Amniotic constriction ring	25959	KANK2	OMIM:616099
HP:0009775	Amniotic constriction ring	2733	GLE1	ORPHA:1486
HP:0009775	Amniotic constriction ring	55612	FERMT1	OMIM:173650
HP:0009775	Amniotic constriction ring	3848	KRT1	OMIM:146590
HP:0009775	Amniotic constriction ring	56916	SMARCAD1	ORPHA:1658
HP:0009775	Amniotic constriction ring	2697	GJA1	ORPHA:1010
HP:0030327	Abnormal osteoclast count	8600	TNFSF11	OMIM:259710
HP:0030327	Abnormal osteoclast count	28962	OSTM1	OMIM:259720
HP:0030330	Multinucleated giant chondrocytes in epiphyseal cartilage	2317	FLNB	OMIM:108720
HP:0030339	Decreased circulating gonadotropin concentration	10908	PNPLA6	OMIM:215470
HP:0030339	Decreased circulating gonadotropin concentration	2796	GNRH1	OMIM:614841
HP:0030339	Decreased circulating gonadotropin concentration	6638	SNRPN	ORPHA:177904
HP:0030339	Decreased circulating gonadotropin concentration	6638	SNRPN	ORPHA:177901
HP:0030339	Decreased circulating gonadotropin concentration	6638	SNRPN	ORPHA:98754
HP:0030339	Decreased circulating gonadotropin concentration	4692	NDN	ORPHA:177904
HP:0030339	Decreased circulating gonadotropin concentration	4692	NDN	ORPHA:177901
HP:0030339	Decreased circulating gonadotropin concentration	4692	NDN	ORPHA:98754
HP:0030339	Decreased circulating gonadotropin concentration	54551	MAGEL2	ORPHA:177904
HP:0030339	Decreased circulating gonadotropin concentration	54551	MAGEL2	ORPHA:177901
HP:0030339	Decreased circulating gonadotropin concentration	54551	MAGEL2	ORPHA:98754
HP:0030339	Decreased circulating gonadotropin concentration	4948	OCA2	ORPHA:177904
HP:0030339	Decreased circulating gonadotropin concentration	4948	OCA2	ORPHA:177901
HP:0030339	Decreased circulating gonadotropin concentration	4948	OCA2	ORPHA:98754
HP:0030339	Decreased circulating gonadotropin concentration	3730	ANOS1	OMIM:308700
HP:0030339	Decreased circulating gonadotropin concentration	389549	FEZF1	OMIM:616030
HP:0030339	Decreased circulating gonadotropin concentration	5626	PROP1	OMIM:262600
HP:0030339	Decreased circulating gonadotropin concentration	5626	PROP1	ORPHA:226307
HP:0030339	Decreased circulating gonadotropin concentration	23312	DMXL2	ORPHA:453533
HP:0030339	Decreased circulating gonadotropin concentration	59336	PRDM13	OMIM:619761
HP:0030339	Decreased circulating gonadotropin concentration	89884	LHX4	ORPHA:226307
HP:0030339	Decreased circulating gonadotropin concentration	8022	LHX3	ORPHA:226307
HP:0030339	Decreased circulating gonadotropin concentration	5449	POU1F1	ORPHA:226307
HP:0030339	Decreased circulating gonadotropin concentration	8820	HESX1	ORPHA:226307
HP:0030339	Decreased circulating gonadotropin concentration	5015	OTX2	OMIM:613986
HP:0030339	Decreased circulating gonadotropin concentration	1363	CPE	OMIM:619326
HP:0030339	Decreased circulating gonadotropin concentration	4808	NHLH2	OMIM:619755
HP:0030339	Decreased circulating gonadotropin concentration	55366	LGR4	OMIM:619613
HP:0030339	Decreased circulating gonadotropin concentration	3814	KISS1	OMIM:614842
HP:0030339	Decreased circulating gonadotropin concentration	10371	SEMA3A	OMIM:614897
HP:0030339	Decreased circulating gonadotropin concentration	8314	BAP1	ORPHA:2495
HP:0030339	Decreased circulating gonadotropin concentration	4771	NF2	ORPHA:2495
HP:0030339	Decreased circulating gonadotropin concentration	6598	SMARCB1	ORPHA:2495
HP:0030339	Decreased circulating gonadotropin concentration	5155	PDGFB	ORPHA:2495
HP:0030339	Decreased circulating gonadotropin concentration	84231	TRAF7	ORPHA:2495
HP:0030339	Decreased circulating gonadotropin concentration	6608	SMO	ORPHA:2495
HP:0030339	Decreased circulating gonadotropin concentration	207	AKT1	ORPHA:2495
HP:0030339	Decreased circulating gonadotropin concentration	5290	PIK3CA	ORPHA:2495
HP:0030339	Decreased circulating gonadotropin concentration	7015	TERT	ORPHA:2495
HP:0030339	Decreased circulating gonadotropin concentration	51684	SUFU	ORPHA:2495
HP:0030339	Decreased circulating gonadotropin concentration	6605	SMARCE1	ORPHA:2495
HP:0030339	Decreased circulating gonadotropin concentration	6091	ROBO1	OMIM:620303
HP:0030339	Decreased circulating gonadotropin concentration	2488	FSHB	OMIM:229070
HP:0030339	Decreased circulating gonadotropin concentration	84634	KISS1R	OMIM:614837
HP:0030339	Decreased circulating gonadotropin concentration	7873	MANF	OMIM:620651
HP:0030339	Decreased circulating gonadotropin concentration	6866	TAC3	OMIM:614839
HP:0030339	Decreased circulating gonadotropin concentration	3972	LHB	OMIM:228300
HP:0030339	Decreased circulating gonadotropin concentration	190	NR0B1	ORPHA:95702
HP:0030338	Abnormal circulating gonadotropin concentration	668	FOXL2	OMIM:110100
HP:0030338	Abnormal circulating gonadotropin concentration	2492	FSHR	ORPHA:64739
HP:0030338	Abnormal circulating gonadotropin concentration	2492	FSHR	ORPHA:243
HP:0030338	Abnormal circulating gonadotropin concentration	2492	FSHR	OMIM:233300
HP:0030338	Abnormal circulating gonadotropin concentration	7490	WT1	ORPHA:347
HP:0030338	Abnormal circulating gonadotropin concentration	7490	WT1	ORPHA:251510
HP:0030338	Abnormal circulating gonadotropin concentration	3973	LHCGR	OMIM:238320
HP:0030338	Abnormal circulating gonadotropin concentration	29893	PSMC3IP	ORPHA:243
HP:0030338	Abnormal circulating gonadotropin concentration	171568	POLR3H	ORPHA:243
HP:0030338	Abnormal circulating gonadotropin concentration	2516	NR5A1	ORPHA:243
HP:0030338	Abnormal circulating gonadotropin concentration	2516	NR5A1	ORPHA:251510
HP:0030338	Abnormal circulating gonadotropin concentration	2516	NR5A1	ORPHA:399805
HP:0030338	Abnormal circulating gonadotropin concentration	125150	ZSWIM7	ORPHA:243
HP:0030338	Abnormal circulating gonadotropin concentration	9210	BMP15	ORPHA:243
HP:0030338	Abnormal circulating gonadotropin concentration	57122	NUP107	ORPHA:243
HP:0030338	Abnormal circulating gonadotropin concentration	23514	SPIDR	ORPHA:243
HP:0030338	Abnormal circulating gonadotropin concentration	56945	MRPS22	ORPHA:243
HP:0030338	Abnormal circulating gonadotropin concentration	646	BNC1	ORPHA:243
HP:0030338	Abnormal circulating gonadotropin concentration	4438	MSH4	ORPHA:243
HP:0030338	Abnormal circulating gonadotropin concentration	2099	ESR1	ORPHA:785
HP:0030338	Abnormal circulating gonadotropin concentration	64072	CDH23	ORPHA:91347
HP:0030338	Abnormal circulating gonadotropin concentration	23395	LARS2	OMIM:615300
HP:0030338	Abnormal circulating gonadotropin concentration	2332	FMR1	OMIM:311360
HP:0030338	Abnormal circulating gonadotropin concentration	6736	SRY	ORPHA:1772
HP:0030338	Abnormal circulating gonadotropin concentration	6736	SRY	ORPHA:251510
HP:0030338	Abnormal circulating gonadotropin concentration	3295	HSD17B4	OMIM:233400
HP:0030338	Abnormal circulating gonadotropin concentration	6662	SOX9	ORPHA:251510
HP:0030338	Abnormal circulating gonadotropin concentration	6845	VAMP7	ORPHA:251510
HP:0030338	Abnormal circulating gonadotropin concentration	51741	WWOX	ORPHA:251510
HP:0030338	Abnormal circulating gonadotropin concentration	4214	MAP3K1	ORPHA:251510
HP:0030338	Abnormal circulating gonadotropin concentration	57647	DHX37	ORPHA:251510
HP:0030338	Abnormal circulating gonadotropin concentration	23414	ZFPM2	ORPHA:251510
HP:0030338	Abnormal circulating gonadotropin concentration	190	NR0B1	ORPHA:251510
HP:0030338	Abnormal circulating gonadotropin concentration	2626	GATA4	ORPHA:251510
HP:0030338	Abnormal circulating gonadotropin concentration	5422	POLA1	ORPHA:163976
HP:0030338	Abnormal circulating gonadotropin concentration	56154	TEX15	ORPHA:399805
HP:0030338	Abnormal circulating gonadotropin concentration	6875	TAF4B	ORPHA:399805
HP:0030338	Abnormal circulating gonadotropin concentration	7516	XRCC2	ORPHA:399805
HP:0030338	Abnormal circulating gonadotropin concentration	254528	MEIOB	ORPHA:399805
HP:0030338	Abnormal circulating gonadotropin concentration	10734	STAG3	ORPHA:399805
HP:0030338	Abnormal circulating gonadotropin concentration	145645	TERB2	ORPHA:399805
HP:0030338	Abnormal circulating gonadotropin concentration	54967	CT55	ORPHA:399805
HP:0030338	Abnormal circulating gonadotropin concentration	4439	MSH5	ORPHA:399805
HP:0030338	Abnormal circulating gonadotropin concentration	283847	TERB1	ORPHA:399805
HP:0030338	Abnormal circulating gonadotropin concentration	402381	SOHLH1	ORPHA:399805
HP:0030338	Abnormal circulating gonadotropin concentration	56159	TEX11	ORPHA:399805
HP:0030338	Abnormal circulating gonadotropin concentration	144132	DNHD1	ORPHA:399805
HP:0030338	Abnormal circulating gonadotropin concentration	1080	CFTR	ORPHA:399805
HP:0030338	Abnormal circulating gonadotropin concentration	50511	SYCP3	ORPHA:399805
HP:0030338	Abnormal circulating gonadotropin concentration	285498	RNF212	ORPHA:399805
HP:0030338	Abnormal circulating gonadotropin concentration	54456	MOV10L1	ORPHA:399805
HP:0030338	Abnormal circulating gonadotropin concentration	56155	TEX14	ORPHA:399805
HP:0030338	Abnormal circulating gonadotropin concentration	91057	CCDC34	ORPHA:399805
HP:0030338	Abnormal circulating gonadotropin concentration	375307	CATIP	ORPHA:399805
HP:0030338	Abnormal circulating gonadotropin concentration	196385	DNAH10	ORPHA:399805
HP:0030338	Abnormal circulating gonadotropin concentration	140801	RPL10L	ORPHA:399805
HP:0030338	Abnormal circulating gonadotropin concentration	317719	KLHL10	ORPHA:399805
HP:0030338	Abnormal circulating gonadotropin concentration	200162	SPAG17	ORPHA:399805
HP:0030338	Abnormal circulating gonadotropin concentration	57697	FANCM	ORPHA:399805
HP:0030338	Abnormal circulating gonadotropin concentration	84225	ZMYND15	ORPHA:399805
HP:0030338	Abnormal circulating gonadotropin concentration	122402	TDRD9	ORPHA:399805
HP:0030338	Abnormal circulating gonadotropin concentration	154197	PNLDC1	ORPHA:399805
HP:0030338	Abnormal circulating gonadotropin concentration	93426	SYCE1	ORPHA:399805
HP:0030338	Abnormal circulating gonadotropin concentration	340719	NANOS1	ORPHA:399805
HP:0030338	Abnormal circulating gonadotropin concentration	286151	FBXO43	ORPHA:399805
HP:0030338	Abnormal circulating gonadotropin concentration	158401	SHOC1	ORPHA:399805
HP:0030338	Abnormal circulating gonadotropin concentration	5161	PDHA2	ORPHA:399805
HP:0030338	Abnormal circulating gonadotropin concentration	1586	CYP17A1	ORPHA:90793
HP:0030338	Abnormal circulating gonadotropin concentration	50846	DHH	ORPHA:168563
HP:0030338	Abnormal circulating gonadotropin concentration	2245	FGD1	OMIM:305400
HP:0030338	Abnormal circulating gonadotropin concentration	286053	NSMCE2	OMIM:617253
HP:0030338	Abnormal circulating gonadotropin concentration	1730	DIAPH2	OMIM:300511
HP:0030338	Abnormal circulating gonadotropin concentration	2100	ESR2	OMIM:618187
HP:0030338	Abnormal circulating gonadotropin concentration	147872	KASH5	OMIM:620548
HP:0030338	Abnormal circulating gonadotropin concentration	84515	MCM8	OMIM:612885
HP:0030338	Abnormal circulating gonadotropin concentration	148867	SLC30A7	OMIM:620501
HP:0030338	Abnormal circulating gonadotropin concentration	5447	POR	ORPHA:95699
HP:0030338	Abnormal circulating gonadotropin concentration	7555	CNBP	OMIM:602668
HP:0030338	Abnormal circulating gonadotropin concentration	317761	C14orf39	OMIM:619203
HP:0030338	Abnormal circulating gonadotropin concentration	3972	LHB	OMIM:228300
HP:0030338	Abnormal circulating gonadotropin concentration	1528	CYB5A	ORPHA:90796
HP:0030338	Abnormal circulating gonadotropin concentration	164045	HFM1	OMIM:615724
HP:0030338	Abnormal circulating gonadotropin concentration	84634	KISS1R	OMIM:176400
HP:0030338	Abnormal circulating gonadotropin concentration	8626	TP63	OMIM:620311
HP:0030338	Abnormal circulating gonadotropin concentration	254394	MCM9	OMIM:616185
HP:0030338	Abnormal circulating gonadotropin concentration	2074	ERCC6	OMIM:616946
HP:0030338	Abnormal circulating gonadotropin concentration	1583	CYP11A1	ORPHA:168558
HP:0030338	Abnormal circulating gonadotropin concentration	1583	CYP11A1	ORPHA:289548
HP:0030338	Abnormal circulating gonadotropin concentration	8192	CLPP	OMIM:614129
HP:0030338	Abnormal circulating gonadotropin concentration	221711	SYCP2L	OMIM:620840
HP:0030338	Abnormal circulating gonadotropin concentration	658	BMPR1B	OMIM:609441
HP:0030338	Abnormal circulating gonadotropin concentration	93953	GCNA	OMIM:301077
HP:0030338	Abnormal circulating gonadotropin concentration	2661	GDF9	OMIM:618014
HP:0030338	Abnormal circulating gonadotropin concentration	55012	PPP2R3C	OMIM:618419
HP:0030338	Abnormal circulating gonadotropin concentration	344018	FIGLA	OMIM:612310
HP:0030338	Abnormal circulating gonadotropin concentration	78995	HROB	OMIM:620897
HP:0030338	Abnormal circulating gonadotropin concentration	2488	FSHB	OMIM:229070
HP:0030338	Abnormal circulating gonadotropin concentration	84690	SPATA22	OMIM:621001
HP:0030338	Abnormal circulating gonadotropin concentration	10908	PNPLA6	OMIM:215470
HP:0030338	Abnormal circulating gonadotropin concentration	2796	GNRH1	OMIM:614841
HP:0030338	Abnormal circulating gonadotropin concentration	6638	SNRPN	ORPHA:177904
HP:0030338	Abnormal circulating gonadotropin concentration	6638	SNRPN	ORPHA:177901
HP:0030338	Abnormal circulating gonadotropin concentration	6638	SNRPN	ORPHA:98754
HP:0030338	Abnormal circulating gonadotropin concentration	4692	NDN	ORPHA:177904
HP:0030338	Abnormal circulating gonadotropin concentration	4692	NDN	ORPHA:177901
HP:0030338	Abnormal circulating gonadotropin concentration	4692	NDN	ORPHA:98754
HP:0030338	Abnormal circulating gonadotropin concentration	54551	MAGEL2	ORPHA:177904
HP:0030338	Abnormal circulating gonadotropin concentration	54551	MAGEL2	ORPHA:177901
HP:0030338	Abnormal circulating gonadotropin concentration	54551	MAGEL2	ORPHA:98754
HP:0030338	Abnormal circulating gonadotropin concentration	4948	OCA2	ORPHA:177904
HP:0030338	Abnormal circulating gonadotropin concentration	4948	OCA2	ORPHA:177901
HP:0030338	Abnormal circulating gonadotropin concentration	4948	OCA2	ORPHA:98754
HP:0030338	Abnormal circulating gonadotropin concentration	3730	ANOS1	OMIM:308700
HP:0030338	Abnormal circulating gonadotropin concentration	389549	FEZF1	OMIM:616030
HP:0030338	Abnormal circulating gonadotropin concentration	5626	PROP1	OMIM:262600
HP:0030338	Abnormal circulating gonadotropin concentration	5626	PROP1	ORPHA:226307
HP:0030338	Abnormal circulating gonadotropin concentration	23312	DMXL2	ORPHA:453533
HP:0030338	Abnormal circulating gonadotropin concentration	59336	PRDM13	OMIM:619761
HP:0030338	Abnormal circulating gonadotropin concentration	89884	LHX4	ORPHA:226307
HP:0030338	Abnormal circulating gonadotropin concentration	8022	LHX3	ORPHA:226307
HP:0030338	Abnormal circulating gonadotropin concentration	5449	POU1F1	ORPHA:226307
HP:0030338	Abnormal circulating gonadotropin concentration	8820	HESX1	ORPHA:226307
HP:0030338	Abnormal circulating gonadotropin concentration	5015	OTX2	OMIM:613986
HP:0030338	Abnormal circulating gonadotropin concentration	1363	CPE	OMIM:619326
HP:0030338	Abnormal circulating gonadotropin concentration	4808	NHLH2	OMIM:619755
HP:0030338	Abnormal circulating gonadotropin concentration	55366	LGR4	OMIM:619613
HP:0030338	Abnormal circulating gonadotropin concentration	3814	KISS1	OMIM:614842
HP:0030338	Abnormal circulating gonadotropin concentration	10371	SEMA3A	OMIM:614897
HP:0030338	Abnormal circulating gonadotropin concentration	8314	BAP1	ORPHA:2495
HP:0030338	Abnormal circulating gonadotropin concentration	4771	NF2	ORPHA:2495
HP:0030338	Abnormal circulating gonadotropin concentration	6598	SMARCB1	ORPHA:2495
HP:0030338	Abnormal circulating gonadotropin concentration	5155	PDGFB	ORPHA:2495
HP:0030338	Abnormal circulating gonadotropin concentration	84231	TRAF7	ORPHA:2495
HP:0030338	Abnormal circulating gonadotropin concentration	6608	SMO	ORPHA:2495
HP:0030338	Abnormal circulating gonadotropin concentration	207	AKT1	ORPHA:2495
HP:0030338	Abnormal circulating gonadotropin concentration	5290	PIK3CA	ORPHA:2495
HP:0030338	Abnormal circulating gonadotropin concentration	7015	TERT	ORPHA:2495
HP:0030338	Abnormal circulating gonadotropin concentration	51684	SUFU	ORPHA:2495
HP:0030338	Abnormal circulating gonadotropin concentration	6605	SMARCE1	ORPHA:2495
HP:0030338	Abnormal circulating gonadotropin concentration	6091	ROBO1	OMIM:620303
HP:0030338	Abnormal circulating gonadotropin concentration	7873	MANF	OMIM:620651
HP:0030338	Abnormal circulating gonadotropin concentration	6866	TAC3	OMIM:614839
HP:0030338	Abnormal circulating gonadotropin concentration	221481	ARMC12	OMIM:620744
HP:0030338	Abnormal circulating gonadotropin concentration	84733	CBX2	OMIM:613080
HP:0030338	Abnormal circulating gonadotropin concentration	8468	FKBP6	OMIM:620103
HP:0030338	Abnormal circulating gonadotropin concentration	367	AR	ORPHA:99429
HP:0030338	Abnormal circulating gonadotropin concentration	63901	FAM111A	ORPHA:93325
HP:0000837	Increased circulating gonadotropin level	668	FOXL2	OMIM:110100
HP:0000837	Increased circulating gonadotropin level	2492	FSHR	ORPHA:64739
HP:0000837	Increased circulating gonadotropin level	2492	FSHR	ORPHA:243
HP:0000837	Increased circulating gonadotropin level	2492	FSHR	OMIM:233300
HP:0000837	Increased circulating gonadotropin level	7490	WT1	ORPHA:347
HP:0000837	Increased circulating gonadotropin level	7490	WT1	ORPHA:251510
HP:0000837	Increased circulating gonadotropin level	3973	LHCGR	OMIM:238320
HP:0000837	Increased circulating gonadotropin level	29893	PSMC3IP	ORPHA:243
HP:0000837	Increased circulating gonadotropin level	171568	POLR3H	ORPHA:243
HP:0000837	Increased circulating gonadotropin level	2516	NR5A1	ORPHA:243
HP:0000837	Increased circulating gonadotropin level	2516	NR5A1	ORPHA:251510
HP:0000837	Increased circulating gonadotropin level	2516	NR5A1	ORPHA:399805
HP:0000837	Increased circulating gonadotropin level	125150	ZSWIM7	ORPHA:243
HP:0000837	Increased circulating gonadotropin level	9210	BMP15	ORPHA:243
HP:0000837	Increased circulating gonadotropin level	57122	NUP107	ORPHA:243
HP:0000837	Increased circulating gonadotropin level	23514	SPIDR	ORPHA:243
HP:0000837	Increased circulating gonadotropin level	56945	MRPS22	ORPHA:243
HP:0000837	Increased circulating gonadotropin level	646	BNC1	ORPHA:243
HP:0000837	Increased circulating gonadotropin level	4438	MSH4	ORPHA:243
HP:0000837	Increased circulating gonadotropin level	2099	ESR1	ORPHA:785
HP:0000837	Increased circulating gonadotropin level	64072	CDH23	ORPHA:91347
HP:0000837	Increased circulating gonadotropin level	23395	LARS2	OMIM:615300
HP:0000837	Increased circulating gonadotropin level	2332	FMR1	OMIM:311360
HP:0000837	Increased circulating gonadotropin level	6736	SRY	ORPHA:1772
HP:0000837	Increased circulating gonadotropin level	6736	SRY	ORPHA:251510
HP:0000837	Increased circulating gonadotropin level	3295	HSD17B4	OMIM:233400
HP:0000837	Increased circulating gonadotropin level	6662	SOX9	ORPHA:251510
HP:0000837	Increased circulating gonadotropin level	6845	VAMP7	ORPHA:251510
HP:0000837	Increased circulating gonadotropin level	51741	WWOX	ORPHA:251510
HP:0000837	Increased circulating gonadotropin level	4214	MAP3K1	ORPHA:251510
HP:0000837	Increased circulating gonadotropin level	57647	DHX37	ORPHA:251510
HP:0000837	Increased circulating gonadotropin level	23414	ZFPM2	ORPHA:251510
HP:0000837	Increased circulating gonadotropin level	190	NR0B1	ORPHA:251510
HP:0000837	Increased circulating gonadotropin level	2626	GATA4	ORPHA:251510
HP:0000837	Increased circulating gonadotropin level	5422	POLA1	ORPHA:163976
HP:0000837	Increased circulating gonadotropin level	56154	TEX15	ORPHA:399805
HP:0000837	Increased circulating gonadotropin level	6875	TAF4B	ORPHA:399805
HP:0000837	Increased circulating gonadotropin level	7516	XRCC2	ORPHA:399805
HP:0000837	Increased circulating gonadotropin level	254528	MEIOB	ORPHA:399805
HP:0000837	Increased circulating gonadotropin level	10734	STAG3	ORPHA:399805
HP:0000837	Increased circulating gonadotropin level	145645	TERB2	ORPHA:399805
HP:0000837	Increased circulating gonadotropin level	54967	CT55	ORPHA:399805
HP:0000837	Increased circulating gonadotropin level	4439	MSH5	ORPHA:399805
HP:0000837	Increased circulating gonadotropin level	283847	TERB1	ORPHA:399805
HP:0000837	Increased circulating gonadotropin level	402381	SOHLH1	ORPHA:399805
HP:0000837	Increased circulating gonadotropin level	56159	TEX11	ORPHA:399805
HP:0000837	Increased circulating gonadotropin level	144132	DNHD1	ORPHA:399805
HP:0000837	Increased circulating gonadotropin level	1080	CFTR	ORPHA:399805
HP:0000837	Increased circulating gonadotropin level	50511	SYCP3	ORPHA:399805
HP:0000837	Increased circulating gonadotropin level	285498	RNF212	ORPHA:399805
HP:0000837	Increased circulating gonadotropin level	54456	MOV10L1	ORPHA:399805
HP:0000837	Increased circulating gonadotropin level	56155	TEX14	ORPHA:399805
HP:0000837	Increased circulating gonadotropin level	91057	CCDC34	ORPHA:399805
HP:0000837	Increased circulating gonadotropin level	375307	CATIP	ORPHA:399805
HP:0000837	Increased circulating gonadotropin level	196385	DNAH10	ORPHA:399805
HP:0000837	Increased circulating gonadotropin level	140801	RPL10L	ORPHA:399805
HP:0000837	Increased circulating gonadotropin level	317719	KLHL10	ORPHA:399805
HP:0000837	Increased circulating gonadotropin level	200162	SPAG17	ORPHA:399805
HP:0000837	Increased circulating gonadotropin level	57697	FANCM	ORPHA:399805
HP:0000837	Increased circulating gonadotropin level	84225	ZMYND15	ORPHA:399805
HP:0000837	Increased circulating gonadotropin level	122402	TDRD9	ORPHA:399805
HP:0000837	Increased circulating gonadotropin level	154197	PNLDC1	ORPHA:399805
HP:0000837	Increased circulating gonadotropin level	93426	SYCE1	ORPHA:399805
HP:0000837	Increased circulating gonadotropin level	340719	NANOS1	ORPHA:399805
HP:0000837	Increased circulating gonadotropin level	286151	FBXO43	ORPHA:399805
HP:0000837	Increased circulating gonadotropin level	158401	SHOC1	ORPHA:399805
HP:0000837	Increased circulating gonadotropin level	5161	PDHA2	ORPHA:399805
HP:0000837	Increased circulating gonadotropin level	1586	CYP17A1	ORPHA:90793
HP:0000837	Increased circulating gonadotropin level	50846	DHH	ORPHA:168563
HP:0000837	Increased circulating gonadotropin level	2245	FGD1	OMIM:305400
HP:0000837	Increased circulating gonadotropin level	286053	NSMCE2	OMIM:617253
HP:0000837	Increased circulating gonadotropin level	1730	DIAPH2	OMIM:300511
HP:0000837	Increased circulating gonadotropin level	2100	ESR2	OMIM:618187
HP:0000837	Increased circulating gonadotropin level	147872	KASH5	OMIM:620548
HP:0000837	Increased circulating gonadotropin level	84515	MCM8	OMIM:612885
HP:0000837	Increased circulating gonadotropin level	148867	SLC30A7	OMIM:620501
HP:0000837	Increased circulating gonadotropin level	8468	FKBP6	OMIM:620103
HP:0000837	Increased circulating gonadotropin level	5447	POR	ORPHA:95699
HP:0000837	Increased circulating gonadotropin level	7555	CNBP	OMIM:602668
HP:0000837	Increased circulating gonadotropin level	317761	C14orf39	OMIM:619203
HP:0000837	Increased circulating gonadotropin level	3972	LHB	OMIM:228300
HP:0000837	Increased circulating gonadotropin level	1528	CYB5A	ORPHA:90796
HP:0000837	Increased circulating gonadotropin level	164045	HFM1	OMIM:615724
HP:0000837	Increased circulating gonadotropin level	84634	KISS1R	OMIM:176400
HP:0000837	Increased circulating gonadotropin level	8626	TP63	OMIM:620311
HP:0000837	Increased circulating gonadotropin level	84690	SPATA22	OMIM:621002
HP:0000837	Increased circulating gonadotropin level	254394	MCM9	OMIM:616185
HP:0000837	Increased circulating gonadotropin level	2074	ERCC6	OMIM:616946
HP:0000837	Increased circulating gonadotropin level	1583	CYP11A1	ORPHA:168558
HP:0000837	Increased circulating gonadotropin level	1583	CYP11A1	ORPHA:289548
HP:0000837	Increased circulating gonadotropin level	8192	CLPP	OMIM:614129
HP:0000837	Increased circulating gonadotropin level	221711	SYCP2L	OMIM:620840
HP:0000837	Increased circulating gonadotropin level	658	BMPR1B	OMIM:609441
HP:0000837	Increased circulating gonadotropin level	367	AR	OMIM:300068
HP:0000837	Increased circulating gonadotropin level	84733	CBX2	OMIM:613080
HP:0000837	Increased circulating gonadotropin level	93953	GCNA	OMIM:301077
HP:0000837	Increased circulating gonadotropin level	2661	GDF9	OMIM:618014
HP:0000837	Increased circulating gonadotropin level	55012	PPP2R3C	OMIM:618419
HP:0000837	Increased circulating gonadotropin level	344018	FIGLA	OMIM:612310
HP:0000837	Increased circulating gonadotropin level	78995	HROB	OMIM:620897
HP:0000837	Increased circulating gonadotropin level	2488	FSHB	OMIM:229070
HP:0030348	Increased circulating androgen concentration	2908	NR3C1	OMIM:615962
HP:0030348	Increased circulating androgen concentration	54361	WNT4	OMIM:158330
HP:0030348	Increased circulating androgen concentration	3284	HSD3B2	ORPHA:90791
HP:0030348	Increased circulating androgen concentration	2778	GNAS	ORPHA:562
HP:0030348	Increased circulating androgen concentration	7026	NR2F2	OMIM:618901
HP:0030348	Increased circulating androgen concentration	367	AR	ORPHA:90797
HP:0030348	Increased circulating androgen concentration	367	AR	ORPHA:99429
HP:0030348	Increased circulating androgen concentration	2492	FSHR	ORPHA:64739
HP:0030348	Increased circulating androgen concentration	11128	POLR3A	OMIM:264090
HP:0030348	Increased circulating androgen concentration	11128	POLR3A	ORPHA:3455
HP:0030348	Increased circulating androgen concentration	7840	ALMS1	ORPHA:64
HP:0030348	Increased circulating androgen concentration	3643	INSR	ORPHA:769
HP:0030348	Increased circulating androgen concentration	29929	ALG6	ORPHA:79320
HP:0030348	Increased circulating androgen concentration	1584	CYP11B1	ORPHA:90795
HP:0030348	Increased circulating androgen concentration	84133	ZNRF3	ORPHA:1501
HP:0030348	Increased circulating androgen concentration	7157	TP53	ORPHA:1501
HP:0030348	Increased circulating androgen concentration	5573	PRKAR1A	ORPHA:1501
HP:0030348	Increased circulating androgen concentration	1499	CTNNB1	ORPHA:1501
HP:0030348	Increased circulating androgen concentration	1029	CDKN2A	ORPHA:1501
HP:0030348	Increased circulating androgen concentration	7015	TERT	ORPHA:1501
HP:0030347	Abnormal circulating androgen level	6875	TAF4B	OMIM:615841
HP:0030347	Abnormal circulating androgen level	84225	ZMYND15	OMIM:615842
HP:0030347	Abnormal circulating androgen level	2099	ESR1	ORPHA:785
HP:0030347	Abnormal circulating androgen level	93426	SYCE1	OMIM:616950
HP:0030347	Abnormal circulating androgen level	8468	FKBP6	OMIM:620103
HP:0030347	Abnormal circulating androgen level	84690	SPATA22	OMIM:621001
HP:0030347	Abnormal circulating androgen level	4438	MSH4	OMIM:108420
HP:0030347	Abnormal circulating androgen level	2908	NR3C1	ORPHA:786
HP:0030347	Abnormal circulating androgen level	201134	CEP112	OMIM:619044
HP:0030347	Abnormal circulating androgen level	2778	GNAS	ORPHA:562
HP:0030347	Abnormal circulating androgen level	7026	NR2F2	OMIM:618901
HP:0030347	Abnormal circulating androgen level	367	AR	ORPHA:90797
HP:0030347	Abnormal circulating androgen level	367	AR	ORPHA:99429
HP:0030347	Abnormal circulating androgen level	54361	WNT4	ORPHA:247768
HP:0030347	Abnormal circulating androgen level	2492	FSHR	ORPHA:64739
HP:0030347	Abnormal circulating androgen level	11128	POLR3A	OMIM:264090
HP:0030347	Abnormal circulating androgen level	11128	POLR3A	ORPHA:3455
HP:0030347	Abnormal circulating androgen level	7840	ALMS1	ORPHA:64
HP:0030347	Abnormal circulating androgen level	3643	INSR	ORPHA:769
HP:0030347	Abnormal circulating androgen level	29929	ALG6	ORPHA:79320
HP:0030347	Abnormal circulating androgen level	1584	CYP11B1	ORPHA:90795
HP:0030347	Abnormal circulating androgen level	84133	ZNRF3	ORPHA:1501
HP:0030347	Abnormal circulating androgen level	7157	TP53	ORPHA:1501
HP:0030347	Abnormal circulating androgen level	5573	PRKAR1A	ORPHA:1501
HP:0030347	Abnormal circulating androgen level	1499	CTNNB1	ORPHA:1501
HP:0030347	Abnormal circulating androgen level	1029	CDKN2A	ORPHA:1501
HP:0030347	Abnormal circulating androgen level	7015	TERT	ORPHA:1501
HP:0030347	Abnormal circulating androgen level	1528	CYB5A	ORPHA:90796
HP:0030347	Abnormal circulating androgen level	1586	CYP17A1	ORPHA:90796
HP:0030347	Abnormal circulating androgen level	1583	CYP11A1	ORPHA:289548
HP:0030347	Abnormal circulating androgen level	1583	CYP11A1	ORPHA:168558
HP:0030347	Abnormal circulating androgen level	4791	NFKB2	ORPHA:293978
HP:0030347	Abnormal circulating androgen level	5447	POR	ORPHA:95699
HP:0030347	Abnormal circulating androgen level	56246	MRAP	ORPHA:361
HP:0030347	Abnormal circulating androgen level	6770	STAR	ORPHA:361
HP:0030347	Abnormal circulating androgen level	4158	MC2R	ORPHA:361
HP:0030347	Abnormal circulating androgen level	23530	NNT	ORPHA:361
HP:0030347	Abnormal circulating androgen level	10587	TXNRD2	ORPHA:361
HP:0030347	Abnormal circulating androgen level	2260	FGFR1	ORPHA:432
HP:0030347	Abnormal circulating androgen level	81848	SPRY4	ORPHA:432
HP:0030347	Abnormal circulating androgen level	128674	PROKR2	ORPHA:432
HP:0030347	Abnormal circulating androgen level	2253	FGF8	ORPHA:432
HP:0030347	Abnormal circulating androgen level	60675	PROK2	ORPHA:432
HP:0030347	Abnormal circulating androgen level	55636	CHD7	ORPHA:432
HP:0030347	Abnormal circulating androgen level	6870	TACR3	ORPHA:432
HP:0030347	Abnormal circulating androgen level	1848	DUSP6	ORPHA:432
HP:0030347	Abnormal circulating androgen level	26012	NSMF	ORPHA:432
HP:0030347	Abnormal circulating androgen level	55717	WDR11	ORPHA:432
HP:0030347	Abnormal circulating androgen level	4808	NHLH2	ORPHA:432
HP:0030347	Abnormal circulating androgen level	9394	HS6ST1	ORPHA:432
HP:0030347	Abnormal circulating androgen level	2796	GNRH1	ORPHA:432
HP:0030347	Abnormal circulating androgen level	2796	GNRH1	OMIM:614841
HP:0030347	Abnormal circulating androgen level	2798	GNRHR	ORPHA:432
HP:0030347	Abnormal circulating androgen level	84634	KISS1R	ORPHA:432
HP:0030347	Abnormal circulating androgen level	6866	TAC3	ORPHA:432
HP:0030347	Abnormal circulating androgen level	6866	TAC3	OMIM:614839
HP:0030347	Abnormal circulating androgen level	8822	FGF17	ORPHA:432
HP:0030347	Abnormal circulating androgen level	3814	KISS1	ORPHA:432
HP:0030347	Abnormal circulating androgen level	55131	RBM28	ORPHA:157954
HP:0030347	Abnormal circulating androgen level	2245	FGD1	OMIM:305400
HP:0030347	Abnormal circulating androgen level	23312	DMXL2	ORPHA:453533
HP:0030347	Abnormal circulating androgen level	57647	DHX37	OMIM:273250
HP:0030347	Abnormal circulating androgen level	57647	DHX37	ORPHA:251510
HP:0030347	Abnormal circulating androgen level	8314	BAP1	ORPHA:2495
HP:0030347	Abnormal circulating androgen level	4771	NF2	ORPHA:2495
HP:0030347	Abnormal circulating androgen level	6598	SMARCB1	ORPHA:2495
HP:0030347	Abnormal circulating androgen level	5155	PDGFB	ORPHA:2495
HP:0030347	Abnormal circulating androgen level	84231	TRAF7	ORPHA:2495
HP:0030347	Abnormal circulating androgen level	6608	SMO	ORPHA:2495
HP:0030347	Abnormal circulating androgen level	207	AKT1	ORPHA:2495
HP:0030347	Abnormal circulating androgen level	5290	PIK3CA	ORPHA:2495
HP:0030347	Abnormal circulating androgen level	51684	SUFU	ORPHA:2495
HP:0030347	Abnormal circulating androgen level	6605	SMARCE1	ORPHA:2495
HP:0030347	Abnormal circulating androgen level	10908	PNPLA6	OMIM:215470
HP:0030347	Abnormal circulating androgen level	2488	FSHB	ORPHA:52901
HP:0030347	Abnormal circulating androgen level	3972	LHB	OMIM:228300
HP:0030347	Abnormal circulating androgen level	1363	CPE	OMIM:619326
HP:0030347	Abnormal circulating androgen level	3952	LEP	ORPHA:66628
HP:0030347	Abnormal circulating androgen level	5422	POLA1	ORPHA:163976
HP:0030347	Abnormal circulating androgen level	4081	MAB21L1	ORPHA:495875
HP:0030347	Abnormal circulating androgen level	79625	NDNF	OMIM:618841
HP:0030347	Abnormal circulating androgen level	57697	FANCM	OMIM:618086
HP:0030347	Abnormal circulating androgen level	654	BMP6	ORPHA:465508
HP:0030347	Abnormal circulating androgen level	3077	HFE	ORPHA:465508
HP:0030347	Abnormal circulating androgen level	55366	LGR4	OMIM:619613
HP:0030347	Abnormal circulating androgen level	2583	B4GALNT1	ORPHA:101006
HP:0030347	Abnormal circulating androgen level	2583	B4GALNT1	OMIM:609195
HP:0030347	Abnormal circulating androgen level	3730	ANOS1	OMIM:308700
HP:0030347	Abnormal circulating androgen level	93953	GCNA	OMIM:301077
HP:0030347	Abnormal circulating androgen level	80067	DCAF17	OMIM:241080
HP:0030347	Abnormal circulating androgen level	55630	SLC39A4	OMIM:201100
HP:0030347	Abnormal circulating androgen level	389549	FEZF1	OMIM:616030
HP:0030347	Abnormal circulating androgen level	6662	SOX9	OMIM:278850
HP:0030347	Abnormal circulating androgen level	6662	SOX9	ORPHA:251510
HP:0030347	Abnormal circulating androgen level	190	NR0B1	ORPHA:95702
HP:0030347	Abnormal circulating androgen level	190	NR0B1	ORPHA:251510
HP:0030347	Abnormal circulating androgen level	6736	SRY	ORPHA:1772
HP:0030347	Abnormal circulating androgen level	6736	SRY	ORPHA:251510
HP:0030347	Abnormal circulating androgen level	3953	LEPR	ORPHA:179494
HP:0030347	Abnormal circulating androgen level	6845	VAMP7	ORPHA:251510
HP:0030347	Abnormal circulating androgen level	51741	WWOX	ORPHA:251510
HP:0030347	Abnormal circulating androgen level	4214	MAP3K1	ORPHA:251510
HP:0030347	Abnormal circulating androgen level	2516	NR5A1	ORPHA:251510
HP:0030347	Abnormal circulating androgen level	7490	WT1	ORPHA:251510
HP:0030347	Abnormal circulating androgen level	23414	ZFPM2	ORPHA:251510
HP:0030347	Abnormal circulating androgen level	2626	GATA4	ORPHA:251510
HP:0030347	Abnormal circulating androgen level	10371	SEMA3A	OMIM:614897
HP:0030347	Abnormal circulating androgen level	50846	DHH	ORPHA:168563
HP:0030347	Abnormal circulating androgen level	3284	HSD3B2	ORPHA:90791
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	2245	FGD1	OMIM:305400
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	286053	NSMCE2	OMIM:617253
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	1730	DIAPH2	OMIM:300511
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	402381	SOHLH1	OMIM:617690
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	2100	ESR2	OMIM:618187
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	147872	KASH5	OMIM:620548
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	84515	MCM8	OMIM:612885
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	57647	DHX37	OMIM:273250
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	57647	DHX37	ORPHA:251510
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	2516	NR5A1	OMIM:612964
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	2516	NR5A1	OMIM:612965
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	2516	NR5A1	ORPHA:251510
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	125150	ZSWIM7	OMIM:619834
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	148867	SLC30A7	OMIM:620501
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	8468	FKBP6	OMIM:620103
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	6736	SRY	OMIM:400044
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	6736	SRY	OMIM:400045
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	6736	SRY	ORPHA:251510
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	5447	POR	ORPHA:95699
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	7555	CNBP	OMIM:602668
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	317761	C14orf39	OMIM:619203
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	3972	LHB	OMIM:228300
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	1528	CYB5A	ORPHA:90796
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	1586	CYP17A1	ORPHA:90796
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	1586	CYP17A1	ORPHA:90793
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	6875	TAF4B	OMIM:615841
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	84225	ZMYND15	OMIM:615842
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	164045	HFM1	OMIM:615724
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	84634	KISS1R	OMIM:176400
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	56945	MRPS22	OMIM:618117
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	10734	STAG3	OMIM:615723
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	8626	TP63	OMIM:620311
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	84690	SPATA22	OMIM:621002
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	668	FOXL2	ORPHA:572333
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	254394	MCM9	OMIM:616185
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	57697	FANCM	OMIM:618086
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	57697	FANCM	OMIM:618096
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	29893	PSMC3IP	OMIM:614324
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	2074	ERCC6	OMIM:616946
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	1583	CYP11A1	ORPHA:168558
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	1583	CYP11A1	ORPHA:289548
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	8192	CLPP	OMIM:614129
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	646	BNC1	OMIM:618723
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	254528	MEIOB	OMIM:620686
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	221711	SYCP2L	OMIM:620840
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	658	BMPR1B	OMIM:609441
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	84733	CBX2	OMIM:613080
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	93953	GCNA	OMIM:301077
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	7516	XRCC2	OMIM:619146
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	2661	GDF9	OMIM:618014
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	23514	SPIDR	OMIM:619665
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	4439	MSH5	OMIM:617442
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	6662	SOX9	OMIM:278850
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	6662	SOX9	ORPHA:251510
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	55012	PPP2R3C	OMIM:618419
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	344018	FIGLA	OMIM:612310
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	158401	SHOC1	OMIM:619949
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	6845	VAMP7	ORPHA:251510
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	51741	WWOX	ORPHA:251510
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	4214	MAP3K1	ORPHA:251510
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	7490	WT1	ORPHA:251510
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	23414	ZFPM2	ORPHA:251510
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	190	NR0B1	ORPHA:251510
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	2626	GATA4	ORPHA:251510
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	78995	HROB	OMIM:620897
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	10908	PNPLA6	OMIM:215470
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	3730	ANOS1	OMIM:308700
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	389549	FEZF1	OMIM:616030
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	5626	PROP1	OMIM:262600
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	5626	PROP1	ORPHA:226307
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	23312	DMXL2	ORPHA:453533
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	59336	PRDM13	OMIM:619761
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	89884	LHX4	ORPHA:226307
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	8022	LHX3	ORPHA:226307
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	5449	POU1F1	ORPHA:226307
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	8820	HESX1	ORPHA:226307
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	5015	OTX2	OMIM:613986
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	1363	CPE	OMIM:619326
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	4808	NHLH2	OMIM:619755
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	55366	LGR4	OMIM:619613
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	3814	KISS1	OMIM:614842
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	10371	SEMA3A	OMIM:614897
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	8314	BAP1	ORPHA:2495
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	4771	NF2	ORPHA:2495
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	6598	SMARCB1	ORPHA:2495
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	5155	PDGFB	ORPHA:2495
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	84231	TRAF7	ORPHA:2495
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	6608	SMO	ORPHA:2495
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	207	AKT1	ORPHA:2495
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	5290	PIK3CA	ORPHA:2495
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	7015	TERT	ORPHA:2495
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	51684	SUFU	ORPHA:2495
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	6605	SMARCE1	ORPHA:2495
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	6091	ROBO1	OMIM:620303
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	2488	FSHB	OMIM:229070
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	7873	MANF	OMIM:620651
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	6866	TAC3	OMIM:614839
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	93426	SYCE1	OMIM:616950
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	221481	ARMC12	OMIM:620744
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	367	AR	ORPHA:99429
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	63901	FAM111A	ORPHA:93325
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	4438	MSH4	OMIM:108420
HP:0030345	Abnormal circulating luteinizing hormone concentration	2245	FGD1	OMIM:305400
HP:0030345	Abnormal circulating luteinizing hormone concentration	286053	NSMCE2	OMIM:617253
HP:0030345	Abnormal circulating luteinizing hormone concentration	1730	DIAPH2	OMIM:300511
HP:0030345	Abnormal circulating luteinizing hormone concentration	402381	SOHLH1	OMIM:617690
HP:0030345	Abnormal circulating luteinizing hormone concentration	57697	FANCM	OMIM:618086
HP:0030345	Abnormal circulating luteinizing hormone concentration	2100	ESR2	OMIM:618187
HP:0030345	Abnormal circulating luteinizing hormone concentration	29893	PSMC3IP	OMIM:614324
HP:0030345	Abnormal circulating luteinizing hormone concentration	1583	CYP11A1	ORPHA:168558
HP:0030345	Abnormal circulating luteinizing hormone concentration	1583	CYP11A1	ORPHA:289548
HP:0030345	Abnormal circulating luteinizing hormone concentration	8192	CLPP	OMIM:614129
HP:0030345	Abnormal circulating luteinizing hormone concentration	84515	MCM8	OMIM:612885
HP:0030345	Abnormal circulating luteinizing hormone concentration	57647	DHX37	OMIM:273250
HP:0030345	Abnormal circulating luteinizing hormone concentration	57647	DHX37	ORPHA:251510
HP:0030345	Abnormal circulating luteinizing hormone concentration	2516	NR5A1	OMIM:612964
HP:0030345	Abnormal circulating luteinizing hormone concentration	2516	NR5A1	OMIM:612965
HP:0030345	Abnormal circulating luteinizing hormone concentration	2516	NR5A1	ORPHA:251510
HP:0030345	Abnormal circulating luteinizing hormone concentration	125150	ZSWIM7	OMIM:619834
HP:0030345	Abnormal circulating luteinizing hormone concentration	221711	SYCP2L	OMIM:620840
HP:0030345	Abnormal circulating luteinizing hormone concentration	6736	SRY	OMIM:400044
HP:0030345	Abnormal circulating luteinizing hormone concentration	6736	SRY	OMIM:400045
HP:0030345	Abnormal circulating luteinizing hormone concentration	6736	SRY	ORPHA:251510
HP:0030345	Abnormal circulating luteinizing hormone concentration	1528	CYB5A	OMIM:250790
HP:0030345	Abnormal circulating luteinizing hormone concentration	1528	CYB5A	ORPHA:90796
HP:0030345	Abnormal circulating luteinizing hormone concentration	658	BMPR1B	OMIM:609441
HP:0030345	Abnormal circulating luteinizing hormone concentration	5447	POR	ORPHA:95699
HP:0030345	Abnormal circulating luteinizing hormone concentration	367	AR	OMIM:300068
HP:0030345	Abnormal circulating luteinizing hormone concentration	367	AR	ORPHA:90797
HP:0030345	Abnormal circulating luteinizing hormone concentration	367	AR	ORPHA:99429
HP:0030345	Abnormal circulating luteinizing hormone concentration	93953	GCNA	OMIM:301077
HP:0030345	Abnormal circulating luteinizing hormone concentration	7516	XRCC2	OMIM:619146
HP:0030345	Abnormal circulating luteinizing hormone concentration	2661	GDF9	OMIM:618014
HP:0030345	Abnormal circulating luteinizing hormone concentration	317761	C14orf39	OMIM:619203
HP:0030345	Abnormal circulating luteinizing hormone concentration	23514	SPIDR	OMIM:619665
HP:0030345	Abnormal circulating luteinizing hormone concentration	1586	CYP17A1	ORPHA:90796
HP:0030345	Abnormal circulating luteinizing hormone concentration	1586	CYP17A1	ORPHA:90793
HP:0030345	Abnormal circulating luteinizing hormone concentration	6662	SOX9	OMIM:278850
HP:0030345	Abnormal circulating luteinizing hormone concentration	6662	SOX9	ORPHA:251510
HP:0030345	Abnormal circulating luteinizing hormone concentration	55012	PPP2R3C	OMIM:618419
HP:0030345	Abnormal circulating luteinizing hormone concentration	344018	FIGLA	OMIM:612310
HP:0030345	Abnormal circulating luteinizing hormone concentration	164045	HFM1	OMIM:615724
HP:0030345	Abnormal circulating luteinizing hormone concentration	84634	KISS1R	OMIM:176400
HP:0030345	Abnormal circulating luteinizing hormone concentration	56945	MRPS22	OMIM:618117
HP:0030345	Abnormal circulating luteinizing hormone concentration	6845	VAMP7	ORPHA:251510
HP:0030345	Abnormal circulating luteinizing hormone concentration	51741	WWOX	ORPHA:251510
HP:0030345	Abnormal circulating luteinizing hormone concentration	4214	MAP3K1	ORPHA:251510
HP:0030345	Abnormal circulating luteinizing hormone concentration	7490	WT1	ORPHA:251510
HP:0030345	Abnormal circulating luteinizing hormone concentration	23414	ZFPM2	ORPHA:251510
HP:0030345	Abnormal circulating luteinizing hormone concentration	190	NR0B1	ORPHA:251510
HP:0030345	Abnormal circulating luteinizing hormone concentration	2626	GATA4	ORPHA:251510
HP:0030345	Abnormal circulating luteinizing hormone concentration	10734	STAG3	OMIM:615723
HP:0030345	Abnormal circulating luteinizing hormone concentration	78995	HROB	OMIM:620897
HP:0030345	Abnormal circulating luteinizing hormone concentration	2488	FSHB	OMIM:229070
HP:0030345	Abnormal circulating luteinizing hormone concentration	668	FOXL2	ORPHA:572333
HP:0030345	Abnormal circulating luteinizing hormone concentration	10908	PNPLA6	OMIM:215470
HP:0030345	Abnormal circulating luteinizing hormone concentration	3730	ANOS1	OMIM:308700
HP:0030345	Abnormal circulating luteinizing hormone concentration	389549	FEZF1	OMIM:616030
HP:0030345	Abnormal circulating luteinizing hormone concentration	5626	PROP1	OMIM:262600
HP:0030345	Abnormal circulating luteinizing hormone concentration	5626	PROP1	ORPHA:226307
HP:0030345	Abnormal circulating luteinizing hormone concentration	3972	LHB	OMIM:228300
HP:0030345	Abnormal circulating luteinizing hormone concentration	23312	DMXL2	ORPHA:453533
HP:0030345	Abnormal circulating luteinizing hormone concentration	59336	PRDM13	OMIM:619761
HP:0030345	Abnormal circulating luteinizing hormone concentration	89884	LHX4	ORPHA:226307
HP:0030345	Abnormal circulating luteinizing hormone concentration	8022	LHX3	ORPHA:226307
HP:0030345	Abnormal circulating luteinizing hormone concentration	5449	POU1F1	ORPHA:226307
HP:0030345	Abnormal circulating luteinizing hormone concentration	8820	HESX1	ORPHA:226307
HP:0030345	Abnormal circulating luteinizing hormone concentration	5015	OTX2	OMIM:613986
HP:0030345	Abnormal circulating luteinizing hormone concentration	4808	NHLH2	OMIM:619755
HP:0030345	Abnormal circulating luteinizing hormone concentration	55366	LGR4	OMIM:619613
HP:0030345	Abnormal circulating luteinizing hormone concentration	3814	KISS1	OMIM:614842
HP:0030345	Abnormal circulating luteinizing hormone concentration	10371	SEMA3A	OMIM:614897
HP:0030345	Abnormal circulating luteinizing hormone concentration	8314	BAP1	ORPHA:2495
HP:0030345	Abnormal circulating luteinizing hormone concentration	4771	NF2	ORPHA:2495
HP:0030345	Abnormal circulating luteinizing hormone concentration	6598	SMARCB1	ORPHA:2495
HP:0030345	Abnormal circulating luteinizing hormone concentration	5155	PDGFB	ORPHA:2495
HP:0030345	Abnormal circulating luteinizing hormone concentration	84231	TRAF7	ORPHA:2495
HP:0030345	Abnormal circulating luteinizing hormone concentration	6608	SMO	ORPHA:2495
HP:0030345	Abnormal circulating luteinizing hormone concentration	207	AKT1	ORPHA:2495
HP:0030345	Abnormal circulating luteinizing hormone concentration	5290	PIK3CA	ORPHA:2495
HP:0030345	Abnormal circulating luteinizing hormone concentration	7015	TERT	ORPHA:2495
HP:0030345	Abnormal circulating luteinizing hormone concentration	51684	SUFU	ORPHA:2495
HP:0030345	Abnormal circulating luteinizing hormone concentration	6605	SMARCE1	ORPHA:2495
HP:0030345	Abnormal circulating luteinizing hormone concentration	6091	ROBO1	OMIM:620303
HP:0030345	Abnormal circulating luteinizing hormone concentration	7873	MANF	OMIM:620651
HP:0030345	Abnormal circulating luteinizing hormone concentration	6866	TAC3	OMIM:614839
HP:0030345	Abnormal circulating luteinizing hormone concentration	6875	TAF4B	OMIM:615841
HP:0030345	Abnormal circulating luteinizing hormone concentration	84225	ZMYND15	OMIM:615842
HP:0030345	Abnormal circulating luteinizing hormone concentration	93426	SYCE1	OMIM:616950
HP:0030345	Abnormal circulating luteinizing hormone concentration	221481	ARMC12	OMIM:620744
HP:0030345	Abnormal circulating luteinizing hormone concentration	84733	CBX2	OMIM:613080
HP:0030345	Abnormal circulating luteinizing hormone concentration	8468	FKBP6	OMIM:620103
HP:0030345	Abnormal circulating luteinizing hormone concentration	4438	MSH4	OMIM:108420
HP:0030344	Decreased circulating luteinizing hormone level	10908	PNPLA6	OMIM:215470
HP:0030344	Decreased circulating luteinizing hormone level	3730	ANOS1	OMIM:308700
HP:0030344	Decreased circulating luteinizing hormone level	389549	FEZF1	OMIM:616030
HP:0030344	Decreased circulating luteinizing hormone level	5626	PROP1	OMIM:262600
HP:0030344	Decreased circulating luteinizing hormone level	5626	PROP1	ORPHA:226307
HP:0030344	Decreased circulating luteinizing hormone level	3972	LHB	OMIM:228300
HP:0030344	Decreased circulating luteinizing hormone level	23312	DMXL2	ORPHA:453533
HP:0030344	Decreased circulating luteinizing hormone level	59336	PRDM13	OMIM:619761
HP:0030344	Decreased circulating luteinizing hormone level	89884	LHX4	ORPHA:226307
HP:0030344	Decreased circulating luteinizing hormone level	8022	LHX3	ORPHA:226307
HP:0030344	Decreased circulating luteinizing hormone level	5449	POU1F1	ORPHA:226307
HP:0030344	Decreased circulating luteinizing hormone level	8820	HESX1	ORPHA:226307
HP:0030344	Decreased circulating luteinizing hormone level	190	NR0B1	ORPHA:95702
HP:0030344	Decreased circulating luteinizing hormone level	5015	OTX2	OMIM:613986
HP:0030344	Decreased circulating luteinizing hormone level	4808	NHLH2	OMIM:619755
HP:0030344	Decreased circulating luteinizing hormone level	55366	LGR4	OMIM:619613
HP:0030344	Decreased circulating luteinizing hormone level	3814	KISS1	OMIM:614842
HP:0030344	Decreased circulating luteinizing hormone level	10371	SEMA3A	OMIM:614897
HP:0030344	Decreased circulating luteinizing hormone level	8314	BAP1	ORPHA:2495
HP:0030344	Decreased circulating luteinizing hormone level	4771	NF2	ORPHA:2495
HP:0030344	Decreased circulating luteinizing hormone level	6598	SMARCB1	ORPHA:2495
HP:0030344	Decreased circulating luteinizing hormone level	5155	PDGFB	ORPHA:2495
HP:0030344	Decreased circulating luteinizing hormone level	84231	TRAF7	ORPHA:2495
HP:0030344	Decreased circulating luteinizing hormone level	6608	SMO	ORPHA:2495
HP:0030344	Decreased circulating luteinizing hormone level	207	AKT1	ORPHA:2495
HP:0030344	Decreased circulating luteinizing hormone level	5290	PIK3CA	ORPHA:2495
HP:0030344	Decreased circulating luteinizing hormone level	7015	TERT	ORPHA:2495
HP:0030344	Decreased circulating luteinizing hormone level	51684	SUFU	ORPHA:2495
HP:0030344	Decreased circulating luteinizing hormone level	6605	SMARCE1	ORPHA:2495
HP:0030344	Decreased circulating luteinizing hormone level	6091	ROBO1	OMIM:620303
HP:0030344	Decreased circulating luteinizing hormone level	84634	KISS1R	OMIM:614837
HP:0030344	Decreased circulating luteinizing hormone level	7873	MANF	OMIM:620651
HP:0030344	Decreased circulating luteinizing hormone level	6866	TAC3	OMIM:614839
HP:0011969	Elevated circulating luteinizing hormone level	2245	FGD1	OMIM:305400
HP:0011969	Elevated circulating luteinizing hormone level	286053	NSMCE2	OMIM:617253
HP:0011969	Elevated circulating luteinizing hormone level	1730	DIAPH2	OMIM:300511
HP:0011969	Elevated circulating luteinizing hormone level	402381	SOHLH1	OMIM:617690
HP:0011969	Elevated circulating luteinizing hormone level	57697	FANCM	OMIM:618086
HP:0011969	Elevated circulating luteinizing hormone level	2100	ESR2	OMIM:618187
HP:0011969	Elevated circulating luteinizing hormone level	29893	PSMC3IP	OMIM:614324
HP:0011969	Elevated circulating luteinizing hormone level	4438	MSH4	OMIM:619938
HP:0011969	Elevated circulating luteinizing hormone level	1583	CYP11A1	ORPHA:168558
HP:0011969	Elevated circulating luteinizing hormone level	1583	CYP11A1	ORPHA:289548
HP:0011969	Elevated circulating luteinizing hormone level	8192	CLPP	OMIM:614129
HP:0011969	Elevated circulating luteinizing hormone level	84515	MCM8	OMIM:612885
HP:0011969	Elevated circulating luteinizing hormone level	57647	DHX37	OMIM:273250
HP:0011969	Elevated circulating luteinizing hormone level	57647	DHX37	ORPHA:251510
HP:0011969	Elevated circulating luteinizing hormone level	2516	NR5A1	OMIM:612964
HP:0011969	Elevated circulating luteinizing hormone level	2516	NR5A1	OMIM:612965
HP:0011969	Elevated circulating luteinizing hormone level	2516	NR5A1	ORPHA:251510
HP:0011969	Elevated circulating luteinizing hormone level	125150	ZSWIM7	OMIM:619834
HP:0011969	Elevated circulating luteinizing hormone level	221711	SYCP2L	OMIM:620840
HP:0011969	Elevated circulating luteinizing hormone level	6736	SRY	OMIM:400044
HP:0011969	Elevated circulating luteinizing hormone level	6736	SRY	OMIM:400045
HP:0011969	Elevated circulating luteinizing hormone level	6736	SRY	ORPHA:251510
HP:0011969	Elevated circulating luteinizing hormone level	1528	CYB5A	OMIM:250790
HP:0011969	Elevated circulating luteinizing hormone level	1528	CYB5A	ORPHA:90796
HP:0011969	Elevated circulating luteinizing hormone level	658	BMPR1B	OMIM:609441
HP:0011969	Elevated circulating luteinizing hormone level	5447	POR	ORPHA:95699
HP:0011969	Elevated circulating luteinizing hormone level	367	AR	OMIM:300068
HP:0011969	Elevated circulating luteinizing hormone level	367	AR	ORPHA:90797
HP:0011969	Elevated circulating luteinizing hormone level	367	AR	ORPHA:99429
HP:0011969	Elevated circulating luteinizing hormone level	93953	GCNA	OMIM:301077
HP:0011969	Elevated circulating luteinizing hormone level	7516	XRCC2	OMIM:619146
HP:0011969	Elevated circulating luteinizing hormone level	2661	GDF9	OMIM:618014
HP:0011969	Elevated circulating luteinizing hormone level	317761	C14orf39	OMIM:619203
HP:0011969	Elevated circulating luteinizing hormone level	23514	SPIDR	OMIM:619665
HP:0011969	Elevated circulating luteinizing hormone level	1586	CYP17A1	ORPHA:90796
HP:0011969	Elevated circulating luteinizing hormone level	1586	CYP17A1	ORPHA:90793
HP:0011969	Elevated circulating luteinizing hormone level	6662	SOX9	OMIM:278850
HP:0011969	Elevated circulating luteinizing hormone level	6662	SOX9	ORPHA:251510
HP:0011969	Elevated circulating luteinizing hormone level	55012	PPP2R3C	OMIM:618419
HP:0011969	Elevated circulating luteinizing hormone level	344018	FIGLA	OMIM:612310
HP:0011969	Elevated circulating luteinizing hormone level	164045	HFM1	OMIM:615724
HP:0011969	Elevated circulating luteinizing hormone level	84634	KISS1R	OMIM:176400
HP:0011969	Elevated circulating luteinizing hormone level	56945	MRPS22	OMIM:618117
HP:0011969	Elevated circulating luteinizing hormone level	6845	VAMP7	ORPHA:251510
HP:0011969	Elevated circulating luteinizing hormone level	51741	WWOX	ORPHA:251510
HP:0011969	Elevated circulating luteinizing hormone level	4214	MAP3K1	ORPHA:251510
HP:0011969	Elevated circulating luteinizing hormone level	7490	WT1	ORPHA:251510
HP:0011969	Elevated circulating luteinizing hormone level	23414	ZFPM2	ORPHA:251510
HP:0011969	Elevated circulating luteinizing hormone level	190	NR0B1	ORPHA:251510
HP:0011969	Elevated circulating luteinizing hormone level	2626	GATA4	ORPHA:251510
HP:0011969	Elevated circulating luteinizing hormone level	10734	STAG3	OMIM:615723
HP:0011969	Elevated circulating luteinizing hormone level	78995	HROB	OMIM:620897
HP:0011969	Elevated circulating luteinizing hormone level	2488	FSHB	OMIM:229070
HP:0011969	Elevated circulating luteinizing hormone level	668	FOXL2	ORPHA:572333
HP:0030341	Decreased circulating follicle stimulating hormone concentration	10908	PNPLA6	OMIM:215470
HP:0030341	Decreased circulating follicle stimulating hormone concentration	3730	ANOS1	OMIM:308700
HP:0030341	Decreased circulating follicle stimulating hormone concentration	389549	FEZF1	OMIM:616030
HP:0030341	Decreased circulating follicle stimulating hormone concentration	5626	PROP1	OMIM:262600
HP:0030341	Decreased circulating follicle stimulating hormone concentration	5626	PROP1	ORPHA:226307
HP:0030341	Decreased circulating follicle stimulating hormone concentration	23312	DMXL2	ORPHA:453533
HP:0030341	Decreased circulating follicle stimulating hormone concentration	59336	PRDM13	OMIM:619761
HP:0030341	Decreased circulating follicle stimulating hormone concentration	89884	LHX4	ORPHA:226307
HP:0030341	Decreased circulating follicle stimulating hormone concentration	8022	LHX3	ORPHA:226307
HP:0030341	Decreased circulating follicle stimulating hormone concentration	5449	POU1F1	ORPHA:226307
HP:0030341	Decreased circulating follicle stimulating hormone concentration	8820	HESX1	ORPHA:226307
HP:0030341	Decreased circulating follicle stimulating hormone concentration	5015	OTX2	OMIM:613986
HP:0030341	Decreased circulating follicle stimulating hormone concentration	1363	CPE	OMIM:619326
HP:0030341	Decreased circulating follicle stimulating hormone concentration	4808	NHLH2	OMIM:619755
HP:0030341	Decreased circulating follicle stimulating hormone concentration	55366	LGR4	OMIM:619613
HP:0030341	Decreased circulating follicle stimulating hormone concentration	3814	KISS1	OMIM:614842
HP:0030341	Decreased circulating follicle stimulating hormone concentration	10371	SEMA3A	OMIM:614897
HP:0030341	Decreased circulating follicle stimulating hormone concentration	8314	BAP1	ORPHA:2495
HP:0030341	Decreased circulating follicle stimulating hormone concentration	4771	NF2	ORPHA:2495
HP:0030341	Decreased circulating follicle stimulating hormone concentration	6598	SMARCB1	ORPHA:2495
HP:0030341	Decreased circulating follicle stimulating hormone concentration	5155	PDGFB	ORPHA:2495
HP:0030341	Decreased circulating follicle stimulating hormone concentration	84231	TRAF7	ORPHA:2495
HP:0030341	Decreased circulating follicle stimulating hormone concentration	6608	SMO	ORPHA:2495
HP:0030341	Decreased circulating follicle stimulating hormone concentration	207	AKT1	ORPHA:2495
HP:0030341	Decreased circulating follicle stimulating hormone concentration	5290	PIK3CA	ORPHA:2495
HP:0030341	Decreased circulating follicle stimulating hormone concentration	7015	TERT	ORPHA:2495
HP:0030341	Decreased circulating follicle stimulating hormone concentration	51684	SUFU	ORPHA:2495
HP:0030341	Decreased circulating follicle stimulating hormone concentration	6605	SMARCE1	ORPHA:2495
HP:0030341	Decreased circulating follicle stimulating hormone concentration	6091	ROBO1	OMIM:620303
HP:0030341	Decreased circulating follicle stimulating hormone concentration	2488	FSHB	OMIM:229070
HP:0030341	Decreased circulating follicle stimulating hormone concentration	84634	KISS1R	OMIM:614837
HP:0030341	Decreased circulating follicle stimulating hormone concentration	7873	MANF	OMIM:620651
HP:0030341	Decreased circulating follicle stimulating hormone concentration	6866	TAC3	OMIM:614839
HP:0030349	Decreased circulating androgen concentration	1528	CYB5A	ORPHA:90796
HP:0030349	Decreased circulating androgen concentration	1586	CYP17A1	ORPHA:90796
HP:0030349	Decreased circulating androgen concentration	1583	CYP11A1	ORPHA:289548
HP:0030349	Decreased circulating androgen concentration	1583	CYP11A1	ORPHA:168558
HP:0030349	Decreased circulating androgen concentration	4791	NFKB2	ORPHA:293978
HP:0030349	Decreased circulating androgen concentration	5447	POR	ORPHA:95699
HP:0030349	Decreased circulating androgen concentration	3972	LHB	OMIM:228300
HP:0030349	Decreased circulating androgen concentration	2260	FGFR1	ORPHA:432
HP:0030349	Decreased circulating androgen concentration	81848	SPRY4	ORPHA:432
HP:0030349	Decreased circulating androgen concentration	128674	PROKR2	ORPHA:432
HP:0030349	Decreased circulating androgen concentration	2253	FGF8	ORPHA:432
HP:0030349	Decreased circulating androgen concentration	60675	PROK2	ORPHA:432
HP:0030349	Decreased circulating androgen concentration	55636	CHD7	ORPHA:432
HP:0030349	Decreased circulating androgen concentration	6870	TACR3	ORPHA:432
HP:0030349	Decreased circulating androgen concentration	1848	DUSP6	ORPHA:432
HP:0030349	Decreased circulating androgen concentration	26012	NSMF	ORPHA:432
HP:0030349	Decreased circulating androgen concentration	55717	WDR11	ORPHA:432
HP:0030349	Decreased circulating androgen concentration	4808	NHLH2	ORPHA:432
HP:0030349	Decreased circulating androgen concentration	9394	HS6ST1	ORPHA:432
HP:0030349	Decreased circulating androgen concentration	2796	GNRH1	ORPHA:432
HP:0030349	Decreased circulating androgen concentration	2796	GNRH1	OMIM:614841
HP:0030349	Decreased circulating androgen concentration	2798	GNRHR	ORPHA:432
HP:0030349	Decreased circulating androgen concentration	84634	KISS1R	ORPHA:432
HP:0030349	Decreased circulating androgen concentration	6866	TAC3	ORPHA:432
HP:0030349	Decreased circulating androgen concentration	6866	TAC3	OMIM:614839
HP:0030349	Decreased circulating androgen concentration	8822	FGF17	ORPHA:432
HP:0030349	Decreased circulating androgen concentration	3814	KISS1	ORPHA:432
HP:0030349	Decreased circulating androgen concentration	55131	RBM28	ORPHA:157954
HP:0030349	Decreased circulating androgen concentration	2245	FGD1	OMIM:305400
HP:0030349	Decreased circulating androgen concentration	23312	DMXL2	ORPHA:453533
HP:0030349	Decreased circulating androgen concentration	57647	DHX37	OMIM:273250
HP:0030349	Decreased circulating androgen concentration	57647	DHX37	ORPHA:251510
HP:0030349	Decreased circulating androgen concentration	8314	BAP1	ORPHA:2495
HP:0030349	Decreased circulating androgen concentration	4771	NF2	ORPHA:2495
HP:0030349	Decreased circulating androgen concentration	6598	SMARCB1	ORPHA:2495
HP:0030349	Decreased circulating androgen concentration	5155	PDGFB	ORPHA:2495
HP:0030349	Decreased circulating androgen concentration	84231	TRAF7	ORPHA:2495
HP:0030349	Decreased circulating androgen concentration	6608	SMO	ORPHA:2495
HP:0030349	Decreased circulating androgen concentration	207	AKT1	ORPHA:2495
HP:0030349	Decreased circulating androgen concentration	5290	PIK3CA	ORPHA:2495
HP:0030349	Decreased circulating androgen concentration	7015	TERT	ORPHA:2495
HP:0030349	Decreased circulating androgen concentration	51684	SUFU	ORPHA:2495
HP:0030349	Decreased circulating androgen concentration	6605	SMARCE1	ORPHA:2495
HP:0030349	Decreased circulating androgen concentration	10908	PNPLA6	OMIM:215470
HP:0030349	Decreased circulating androgen concentration	2488	FSHB	ORPHA:52901
HP:0030349	Decreased circulating androgen concentration	1363	CPE	OMIM:619326
HP:0030349	Decreased circulating androgen concentration	3952	LEP	ORPHA:66628
HP:0030349	Decreased circulating androgen concentration	5422	POLA1	ORPHA:163976
HP:0030349	Decreased circulating androgen concentration	3284	HSD3B2	ORPHA:90791
HP:0030349	Decreased circulating androgen concentration	4081	MAB21L1	ORPHA:495875
HP:0030349	Decreased circulating androgen concentration	79625	NDNF	OMIM:618841
HP:0030349	Decreased circulating androgen concentration	57697	FANCM	OMIM:618086
HP:0030349	Decreased circulating androgen concentration	654	BMP6	ORPHA:465508
HP:0030349	Decreased circulating androgen concentration	3077	HFE	ORPHA:465508
HP:0030349	Decreased circulating androgen concentration	55366	LGR4	OMIM:619613
HP:0030349	Decreased circulating androgen concentration	2583	B4GALNT1	ORPHA:101006
HP:0030349	Decreased circulating androgen concentration	2583	B4GALNT1	OMIM:609195
HP:0030349	Decreased circulating androgen concentration	3730	ANOS1	OMIM:308700
HP:0030349	Decreased circulating androgen concentration	93953	GCNA	OMIM:301077
HP:0030349	Decreased circulating androgen concentration	80067	DCAF17	OMIM:241080
HP:0030349	Decreased circulating androgen concentration	55630	SLC39A4	OMIM:201100
HP:0030349	Decreased circulating androgen concentration	389549	FEZF1	OMIM:616030
HP:0030349	Decreased circulating androgen concentration	6662	SOX9	OMIM:278850
HP:0030349	Decreased circulating androgen concentration	6662	SOX9	ORPHA:251510
HP:0030349	Decreased circulating androgen concentration	190	NR0B1	ORPHA:95702
HP:0030349	Decreased circulating androgen concentration	190	NR0B1	ORPHA:251510
HP:0030349	Decreased circulating androgen concentration	6736	SRY	ORPHA:1772
HP:0030349	Decreased circulating androgen concentration	6736	SRY	ORPHA:251510
HP:0030349	Decreased circulating androgen concentration	3953	LEPR	ORPHA:179494
HP:0030349	Decreased circulating androgen concentration	6845	VAMP7	ORPHA:251510
HP:0030349	Decreased circulating androgen concentration	51741	WWOX	ORPHA:251510
HP:0030349	Decreased circulating androgen concentration	4214	MAP3K1	ORPHA:251510
HP:0030349	Decreased circulating androgen concentration	2516	NR5A1	ORPHA:251510
HP:0030349	Decreased circulating androgen concentration	7490	WT1	ORPHA:251510
HP:0030349	Decreased circulating androgen concentration	23414	ZFPM2	ORPHA:251510
HP:0030349	Decreased circulating androgen concentration	2626	GATA4	ORPHA:251510
HP:0030349	Decreased circulating androgen concentration	10371	SEMA3A	OMIM:614897
HP:0030349	Decreased circulating androgen concentration	50846	DHH	ORPHA:168563
HP:0030351	Urticarial plaque	51816	ADA2	OMIM:615688
HP:0001080	Biliary tract abnormality	157570	ESCO2	OMIM:268300
HP:0001080	Biliary tract abnormality	1244	ABCC2	ORPHA:234
HP:0001080	Biliary tract abnormality	1244	ABCC2	OMIM:237500
HP:0001080	Biliary tract abnormality	6928	HNF1B	OMIM:137920
HP:0001080	Biliary tract abnormality	145173	B3GLCT	OMIM:261540
HP:0001080	Biliary tract abnormality	4261	CIITA	OMIM:209920
HP:0001080	Biliary tract abnormality	6794	STK11	OMIM:175200
HP:0001080	Biliary tract abnormality	84100	ARL6	OMIM:209900
HP:0001080	Biliary tract abnormality	79140	CCDC28B	OMIM:209900
HP:0001080	Biliary tract abnormality	582	BBS1	OMIM:209900
HP:0001080	Biliary tract abnormality	7468	NSD2	OMIM:194190
HP:0001080	Biliary tract abnormality	10815	CPLX1	OMIM:194190
HP:0001080	Biliary tract abnormality	1487	CTBP1	OMIM:194190
HP:0001080	Biliary tract abnormality	53834	FGFRL1	OMIM:194190
HP:0001080	Biliary tract abnormality	3954	LETM1	OMIM:194190
HP:0001080	Biliary tract abnormality	54658	UGT1A1	ORPHA:79234
HP:0001080	Biliary tract abnormality	80270	HSD3B7	ORPHA:79301
HP:0001080	Biliary tract abnormality	5828	PEX2	OMIM:614866
HP:0001080	Biliary tract abnormality	5830	PEX5	OMIM:214110
HP:0001080	Biliary tract abnormality	5189	PEX1	OMIM:214100
HP:0001080	Biliary tract abnormality	9968	MED12	OMIM:301068
HP:0001080	Biliary tract abnormality	9076	CLDN1	OMIM:607626
HP:0001080	Biliary tract abnormality	51473	DCDC2	OMIM:617394
HP:0001080	Biliary tract abnormality	51473	DCDC2	OMIM:616217
HP:0001080	Biliary tract abnormality	79989	IFT56	OMIM:619534
HP:0001080	Biliary tract abnormality	57545	CC2D2A	OMIM:612284
HP:0001080	Biliary tract abnormality	125988	MICOS13	OMIM:618329
HP:0001080	Biliary tract abnormality	80184	CEP290	OMIM:611134
HP:0001080	Biliary tract abnormality	57539	WDR35	OMIM:613610
HP:0001080	Biliary tract abnormality	3295	HSD17B4	OMIM:261515
HP:0001080	Biliary tract abnormality	91147	TMEM67	OMIM:610688
HP:0001080	Biliary tract abnormality	91147	TMEM67	OMIM:607361
HP:0001080	Biliary tract abnormality	9420	CYP7B1	OMIM:613812
HP:0001080	Biliary tract abnormality	9420	CYP7B1	ORPHA:79302
HP:0001080	Biliary tract abnormality	10056	FARSB	OMIM:613658
HP:0001080	Biliary tract abnormality	5428	POLG	OMIM:203700
HP:0001080	Biliary tract abnormality	5244	ABCB4	OMIM:602347
HP:0001080	Biliary tract abnormality	5244	ABCB4	OMIM:600803
HP:0001080	Biliary tract abnormality	54903	MKS1	OMIM:249000
HP:0001080	Biliary tract abnormality	113220	KIF12	OMIM:619662
HP:0001080	Biliary tract abnormality	23322	RPGRIP1L	OMIM:611561
HP:0001080	Biliary tract abnormality	5261	PHKG2	OMIM:613027
HP:0001080	Biliary tract abnormality	2542	SLC37A4	OMIM:619525
HP:0001080	Biliary tract abnormality	51259	TMEM216	OMIM:603194
HP:0001080	Biliary tract abnormality	1080	CFTR	OMIM:219700
HP:0001080	Biliary tract abnormality	2212	FCGR2A	OMIM:219700
HP:0001080	Biliary tract abnormality	7040	TGFB1	OMIM:219700
HP:0001080	Biliary tract abnormality	3594	IL12RB1	ORPHA:186
HP:0001080	Biliary tract abnormality	23534	TNPO3	ORPHA:186
HP:0001080	Biliary tract abnormality	3592	IL12A	ORPHA:186
HP:0001080	Biliary tract abnormality	6689	SPIB	ORPHA:186
HP:0001080	Biliary tract abnormality	5450	POU2AF1	ORPHA:186
HP:0001080	Biliary tract abnormality	9966	TNFSF15	ORPHA:186
HP:0001080	Biliary tract abnormality	79258	MMEL1	ORPHA:186
HP:0001080	Biliary tract abnormality	3663	IRF5	ORPHA:186
HP:0001080	Biliary tract abnormality	3930	LBR	OMIM:613471
HP:0001080	Biliary tract abnormality	3875	KRT18	OMIM:215600
HP:0001080	Biliary tract abnormality	6811	STX5	OMIM:620454
HP:0001080	Biliary tract abnormality	5314	PKHD1	ORPHA:53035
HP:0001080	Biliary tract abnormality	2629	GBA1	ORPHA:77259
HP:0001080	Biliary tract abnormality	950	SCARB2	ORPHA:77259
HP:0001080	Biliary tract abnormality	9361	LONP1	ORPHA:1458
HP:0001080	Biliary tract abnormality	56623	INPP5E	ORPHA:1454
HP:0001080	Biliary tract abnormality	26123	TCTN3	OMIM:614815
HP:0001080	Biliary tract abnormality	26276	VPS33B	OMIM:208085
HP:0001080	Biliary tract abnormality	2627	GATA6	OMIM:600001
HP:0001080	Biliary tract abnormality	2627	GATA6	ORPHA:2255
HP:0001080	Biliary tract abnormality	222546	RFX6	OMIM:615710
HP:0001080	Biliary tract abnormality	7547	ZIC3	OMIM:306955
HP:0001080	Biliary tract abnormality	2072	ERCC4	OMIM:615272
HP:0001080	Biliary tract abnormality	199221	DZIP1L	ORPHA:731
HP:0001080	Biliary tract abnormality	54914	FOCAD	OMIM:619991
HP:0001080	Biliary tract abnormality	182	JAG1	OMIM:118450
HP:0001080	Biliary tract abnormality	55788	LMBRD1	ORPHA:79284
HP:0001080	Biliary tract abnormality	5195	PEX14	OMIM:614887
HP:0001080	Biliary tract abnormality	4000	LMNA	ORPHA:363618
HP:0001080	Biliary tract abnormality	6718	AKR1D1	ORPHA:79303
HP:0001080	Biliary tract abnormality	27031	NPHP3	ORPHA:3032
HP:0001080	Biliary tract abnormality	2642	GCGR	ORPHA:438274
HP:0001080	Biliary tract abnormality	2859	GPR35	ORPHA:171
HP:0001080	Biliary tract abnormality	10507	SEMA4D	ORPHA:171
HP:0001080	Biliary tract abnormality	4485	MST1	ORPHA:171
HP:0001080	Biliary tract abnormality	6925	TCF4	ORPHA:171
HP:0001080	Biliary tract abnormality	215	ABCD1	ORPHA:369942
HP:0001080	Biliary tract abnormality	10134	BCAP31	ORPHA:369942
HP:0001080	Biliary tract abnormality	331	XIAP	ORPHA:538934
HP:0001080	Biliary tract abnormality	5966	REL	OMIM:619652
HP:0001080	Biliary tract abnormality	9742	IFT140	OMIM:266920
HP:0001080	Biliary tract abnormality	50615	IL21R	OMIM:615207
HP:0001080	Biliary tract abnormality	26525	IL36RN	OMIM:614204
HP:0001080	Biliary tract abnormality	83737	ITCH	ORPHA:228426
HP:0001080	Biliary tract abnormality	617	BCS1L	OMIM:124000
HP:0001080	Biliary tract abnormality	3514	IGKC	ORPHA:183675
HP:0001080	Biliary tract abnormality	3501	IGHG2	ORPHA:183675
HP:0001080	Biliary tract abnormality	654	BMP6	ORPHA:465508
HP:0001080	Biliary tract abnormality	3077	HFE	ORPHA:465508
HP:0001080	Biliary tract abnormality	5604	MAP2K1	ORPHA:389
HP:0001080	Biliary tract abnormality	4893	NRAS	ORPHA:389
HP:0001080	Biliary tract abnormality	673	BRAF	ORPHA:389
HP:0001080	Biliary tract abnormality	81704	DOCK8	OMIM:243700
HP:0001080	Biliary tract abnormality	5994	RFXAP	ORPHA:572
HP:0001080	Biliary tract abnormality	5993	RFX5	ORPHA:572
HP:0001080	Biliary tract abnormality	8625	RFXANK	ORPHA:572
HP:0001080	Biliary tract abnormality	8625	RFXANK	OMIM:620815
HP:0001080	Biliary tract abnormality	959	CD40LG	OMIM:308230
HP:0001080	Biliary tract abnormality	57728	WDR19	OMIM:614377
HP:0001080	Biliary tract abnormality	57728	WDR19	OMIM:616307
HP:0001080	Biliary tract abnormality	9371	KIF3B	OMIM:618955
HP:0001080	Biliary tract abnormality	84936	ZFYVE19	OMIM:619849
HP:0001080	Biliary tract abnormality	672	BRCA1	ORPHA:70567
HP:0001080	Biliary tract abnormality	675	BRCA2	ORPHA:70567
HP:0001080	Biliary tract abnormality	5774	PTPN3	ORPHA:70567
HP:0001080	Biliary tract abnormality	6098	ROS1	ORPHA:70567
HP:0001080	Biliary tract abnormality	54894	RNF43	ORPHA:157798
HP:0001080	Biliary tract abnormality	410	ARSA	ORPHA:309271
HP:0001080	Biliary tract abnormality	5660	PSAP	ORPHA:309271
HP:0001080	Biliary tract abnormality	5297	PI4KA	ORPHA:436252
HP:0001080	Biliary tract abnormality	57217	TTC7A	ORPHA:436252
HP:0001080	Biliary tract abnormality	11198	SUPT16H	OMIM:619480
HP:0001080	Biliary tract abnormality	8239	USP9X	ORPHA:480880
HP:0001081	Cholelithiasis	3043	HBB	ORPHA:232
HP:0001081	Cholelithiasis	3043	HBB	ORPHA:231222
HP:0001081	Cholelithiasis	3043	HBB	OMIM:603903
HP:0001081	Cholelithiasis	27183	VPS4A	OMIM:619273
HP:0001081	Cholelithiasis	2235	FECH	OMIM:177000
HP:0001081	Cholelithiasis	2235	FECH	ORPHA:79278
HP:0001081	Cholelithiasis	57003	CCDC47	OMIM:618268
HP:0001081	Cholelithiasis	212	ALAS2	OMIM:300752
HP:0001081	Cholelithiasis	1593	CYP27A1	ORPHA:909
HP:0001081	Cholelithiasis	1593	CYP27A1	OMIM:213700
HP:0001081	Cholelithiasis	7167	TPI1	OMIM:615512
HP:0001081	Cholelithiasis	6804	STX1A	ORPHA:904
HP:0001081	Cholelithiasis	7461	CLIP2	ORPHA:904
HP:0001081	Cholelithiasis	84277	DNAJC30	ORPHA:904
HP:0001081	Cholelithiasis	8468	FKBP6	ORPHA:904
HP:0001081	Cholelithiasis	5982	RFC2	ORPHA:904
HP:0001081	Cholelithiasis	2969	GTF2I	ORPHA:904
HP:0001081	Cholelithiasis	3984	LIMK1	ORPHA:904
HP:0001081	Cholelithiasis	9569	GTF2IRD1	ORPHA:904
HP:0001081	Cholelithiasis	155382	VPS37D	ORPHA:904
HP:0001081	Cholelithiasis	155368	METTL27	ORPHA:904
HP:0001081	Cholelithiasis	114049	BUD23	ORPHA:904
HP:0001081	Cholelithiasis	7458	EIF4H	ORPHA:904
HP:0001081	Cholelithiasis	84163	GTF2IRD2	ORPHA:904
HP:0001081	Cholelithiasis	26608	TBL2	ORPHA:904
HP:0001081	Cholelithiasis	653361	NCF1	ORPHA:904
HP:0001081	Cholelithiasis	135886	TMEM270	ORPHA:904
HP:0001081	Cholelithiasis	9031	BAZ1B	ORPHA:904
HP:0001081	Cholelithiasis	2006	ELN	ORPHA:904
HP:0001081	Cholelithiasis	5205	ATP8B1	OMIM:211600
HP:0001081	Cholelithiasis	9780	PIEZO1	OMIM:194380
HP:0001081	Cholelithiasis	9780	PIEZO1	ORPHA:3202
HP:0001081	Cholelithiasis	5314	PKHD1	ORPHA:53035
HP:0001081	Cholelithiasis	286	ANK1	OMIM:182900
HP:0001081	Cholelithiasis	286	ANK1	ORPHA:822
HP:0001081	Cholelithiasis	2038	EPB42	ORPHA:822
HP:0001081	Cholelithiasis	6521	SLC4A1	ORPHA:822
HP:0001081	Cholelithiasis	6521	SLC4A1	ORPHA:3202
HP:0001081	Cholelithiasis	6710	SPTB	ORPHA:822
HP:0001081	Cholelithiasis	6710	SPTB	ORPHA:288
HP:0001081	Cholelithiasis	6708	SPTA1	ORPHA:822
HP:0001081	Cholelithiasis	6708	SPTA1	ORPHA:288
HP:0001081	Cholelithiasis	6340	SCNN1G	ORPHA:171876
HP:0001081	Cholelithiasis	6337	SCNN1A	ORPHA:171876
HP:0001081	Cholelithiasis	6338	SCNN1B	ORPHA:171876
HP:0001081	Cholelithiasis	5244	ABCB4	ORPHA:69663
HP:0001081	Cholelithiasis	5244	ABCB4	OMIM:600803
HP:0001081	Cholelithiasis	2642	GCGR	ORPHA:438274
HP:0001081	Cholelithiasis	10483	SEC23B	OMIM:224100
HP:0001081	Cholelithiasis	3098	HK1	OMIM:235700
HP:0001081	Cholelithiasis	644	BLVRA	OMIM:614156
HP:0001081	Cholelithiasis	226	ALDOA	OMIM:611881
HP:0001081	Cholelithiasis	23600	AMACR	ORPHA:79095
HP:0001081	Cholelithiasis	1760	DMPK	OMIM:160900
HP:0001081	Cholelithiasis	7030	TFE3	OMIM:301066
HP:0001081	Cholelithiasis	6609	SMPD1	ORPHA:77293
HP:0001081	Cholelithiasis	8242	KDM5C	OMIM:300534
HP:0001081	Cholelithiasis	7390	UROS	OMIM:263700
HP:0001081	Cholelithiasis	2859	GPR35	ORPHA:171
HP:0001081	Cholelithiasis	10507	SEMA4D	ORPHA:171
HP:0001081	Cholelithiasis	4485	MST1	ORPHA:171
HP:0001081	Cholelithiasis	6925	TCF4	ORPHA:171
HP:0001081	Cholelithiasis	326	AIRE	OMIM:240300
HP:0001081	Cholelithiasis	2629	GBA1	ORPHA:2072
HP:0001081	Cholelithiasis	2629	GBA1	ORPHA:77259
HP:0001081	Cholelithiasis	2821	GPI	OMIM:613470
HP:0001081	Cholelithiasis	4358	MPV17	OMIM:256810
HP:0001081	Cholelithiasis	5213	PFKM	OMIM:232800
HP:0001081	Cholelithiasis	81857	MED25	ORPHA:464738
HP:0001081	Cholelithiasis	54148	MRPL39	OMIM:620646
HP:0001081	Cholelithiasis	5824	PEX19	OMIM:614886
HP:0001081	Cholelithiasis	10020	GNE	ORPHA:3166
HP:0001081	Cholelithiasis	1312	COMT	ORPHA:567
HP:0001081	Cholelithiasis	221037	JMJD1C	ORPHA:567
HP:0001081	Cholelithiasis	2812	GP1BB	ORPHA:567
HP:0001081	Cholelithiasis	6239	RREB1	ORPHA:567
HP:0001081	Cholelithiasis	6899	TBX1	ORPHA:567
HP:0001081	Cholelithiasis	6899	TBX1	OMIM:188400
HP:0001081	Cholelithiasis	7290	HIRA	ORPHA:567
HP:0001081	Cholelithiasis	9632	SEC24C	ORPHA:567
HP:0001081	Cholelithiasis	7353	UFD1	ORPHA:567
HP:0001081	Cholelithiasis	421	ARVCF	ORPHA:567
HP:0001081	Cholelithiasis	3783	KCNN4	ORPHA:3202
HP:0001081	Cholelithiasis	83550	GPR101	ORPHA:963
HP:0001081	Cholelithiasis	9049	AIP	ORPHA:963
HP:0001081	Cholelithiasis	2035	EPB41	ORPHA:288
HP:0001081	Cholelithiasis	2995	GYPC	ORPHA:288
HP:0001081	Cholelithiasis	5313	PKLR	OMIM:266200
HP:0001081	Cholelithiasis	171023	ASXL1	ORPHA:97297
HP:0001081	Cholelithiasis	8647	ABCB11	OMIM:605479
HP:0001081	Cholelithiasis	7386	UQCRFS1	OMIM:618775
HP:0001081	Cholelithiasis	64241	ABCG8	OMIM:611465
HP:0001081	Cholelithiasis	3708	ITPR1	OMIM:206700
HP:0001081	Cholelithiasis	950	SCARB2	ORPHA:77259
HP:0001081	Cholelithiasis	1581	CYP7A1	ORPHA:209902
HP:0001081	Cholelithiasis	3081	HGD	ORPHA:56
HP:0001082	Cholecystitis	410	ARSA	ORPHA:309271
HP:0001082	Cholecystitis	410	ARSA	ORPHA:309256
HP:0001082	Cholecystitis	410	ARSA	ORPHA:309263
HP:0001082	Cholecystitis	410	ARSA	OMIM:250100
HP:0001082	Cholecystitis	5660	PSAP	ORPHA:309271
HP:0001082	Cholecystitis	5660	PSAP	ORPHA:309256
HP:0001082	Cholecystitis	5660	PSAP	ORPHA:309263
HP:0001082	Cholecystitis	7030	TFE3	OMIM:301066
HP:0001082	Cholecystitis	811	CALR	ORPHA:131
HP:0001082	Cholecystitis	3717	JAK2	ORPHA:131
HP:0001082	Cholecystitis	2153	F5	ORPHA:131
HP:0001082	Cholecystitis	2821	GPI	OMIM:613470
HP:0001082	Cholecystitis	7167	TPI1	OMIM:615512
HP:0001082	Cholecystitis	57104	PNPLA2	ORPHA:98908
HP:0001082	Cholecystitis	25913	POT1	OMIM:620367
HP:0001082	Cholecystitis	3514	IGKC	ORPHA:183675
HP:0001082	Cholecystitis	3501	IGHG2	ORPHA:183675
HP:0001082	Cholecystitis	5313	PKLR	OMIM:266200
HP:0001082	Cholecystitis	5244	ABCB4	ORPHA:69663
HP:0001082	Cholecystitis	5244	ABCB4	OMIM:600803
HP:0001082	Cholecystitis	5244	ABCB4	ORPHA:69665
HP:0001082	Cholecystitis	5205	ATP8B1	ORPHA:69665
HP:0001082	Cholecystitis	8647	ABCB11	ORPHA:69665
HP:0001082	Cholecystitis	9971	NR1H4	ORPHA:69665
HP:0001082	Cholecystitis	3098	HK1	OMIM:235700
HP:0001082	Cholecystitis	226	ALDOA	OMIM:611881
HP:0001082	Cholecystitis	4204	MECP2	ORPHA:778
HP:0001083	Ectopia lentis	64840	PORCN	OMIM:305600
HP:0001083	Ectopia lentis	64840	PORCN	ORPHA:2092
HP:0001083	Ectopia lentis	875	CBS	ORPHA:394
HP:0001083	Ectopia lentis	875	CBS	OMIM:236200
HP:0001083	Ectopia lentis	54507	ADAMTSL4	OMIM:225200
HP:0001083	Ectopia lentis	54507	ADAMTSL4	ORPHA:1885
HP:0001083	Ectopia lentis	54507	ADAMTSL4	OMIM:225100
HP:0001083	Ectopia lentis	5080	PAX6	ORPHA:250923
HP:0001083	Ectopia lentis	5080	PAX6	OMIM:106210
HP:0001083	Ectopia lentis	2296	FOXC1	ORPHA:250923
HP:0001083	Ectopia lentis	54765	TRIM44	ORPHA:250923
HP:0001083	Ectopia lentis	2200	FBN1	ORPHA:1885
HP:0001083	Ectopia lentis	2200	FBN1	ORPHA:284979
HP:0001083	Ectopia lentis	2200	FBN1	OMIM:129600
HP:0001083	Ectopia lentis	2200	FBN1	OMIM:608328
HP:0001083	Ectopia lentis	2200	FBN1	ORPHA:2084
HP:0001083	Ectopia lentis	2200	FBN1	OMIM:154700
HP:0001083	Ectopia lentis	2200	FBN1	ORPHA:3449
HP:0001083	Ectopia lentis	2200	FBN1	OMIM:604308
HP:0001083	Ectopia lentis	2200	FBN1	OMIM:616914
HP:0001083	Ectopia lentis	4337	MOCS1	OMIM:252150
HP:0001083	Ectopia lentis	652	BMP4	ORPHA:828
HP:0001083	Ectopia lentis	6890	TAP1	OMIM:604571
HP:0001083	Ectopia lentis	1289	COL5A1	OMIM:130000
HP:0001083	Ectopia lentis	2201	FBN2	OMIM:121050
HP:0001083	Ectopia lentis	2201	FBN2	ORPHA:115
HP:0001083	Ectopia lentis	113246	C12orf57	OMIM:218340
HP:0001083	Ectopia lentis	126792	B3GALT6	OMIM:271640
HP:0001083	Ectopia lentis	170691	ADAMTS17	OMIM:613195
HP:0001083	Ectopia lentis	170691	ADAMTS17	ORPHA:3449
HP:0001083	Ectopia lentis	54880	BCOR	ORPHA:2712
HP:0001083	Ectopia lentis	4053	LTBP2	ORPHA:3449
HP:0001083	Ectopia lentis	4053	LTBP2	OMIM:613086
HP:0001083	Ectopia lentis	4053	LTBP2	OMIM:614819
HP:0001083	Ectopia lentis	4053	LTBP2	OMIM:251750
HP:0001083	Ectopia lentis	81794	ADAMTS10	ORPHA:3449
HP:0001083	Ectopia lentis	81794	ADAMTS10	OMIM:277600
HP:0001083	Ectopia lentis	4088	SMAD3	OMIM:613795
HP:0001083	Ectopia lentis	7048	TGFBR2	OMIM:610168
HP:0001083	Ectopia lentis	27151	CPAMD8	OMIM:617319
HP:0001083	Ectopia lentis	10157	AASS	OMIM:238700
HP:0001083	Ectopia lentis	4693	NDP	ORPHA:649
HP:0001083	Ectopia lentis	3339	HSPG2	ORPHA:800
HP:0001083	Ectopia lentis	6821	SUOX	OMIM:272300
HP:0001083	Ectopia lentis	444	ASPH	OMIM:601552
HP:0001083	Ectopia lentis	1301	COL11A1	ORPHA:560
HP:0001083	Ectopia lentis	7046	TGFBR1	OMIM:609192
HP:0001083	Ectopia lentis	4338	MOCS2	OMIM:252160
HP:0001083	Ectopia lentis	80781	COL18A1	ORPHA:1571
HP:0001083	Ectopia lentis	5062	PAK2	ORPHA:1571
HP:0001083	Ectopia lentis	7042	TGFB2	OMIM:614816
HP:0001083	Ectopia lentis	7490	WT1	OMIM:106210
HP:0001083	Ectopia lentis	4016	LOXL1	OMIM:177650
HP:0001083	Ectopia lentis	26610	ELP4	OMIM:617141
HP:0001083	Ectopia lentis	55214	P3H2	OMIM:614292
HP:0001083	Ectopia lentis	5130	PCYT1A	ORPHA:85167
HP:0001083	Ectopia lentis	5130	PCYT1A	OMIM:608940
HP:0001083	Ectopia lentis	91851	CHRDL1	OMIM:309300
HP:0001083	Ectopia lentis	6297	SALL2	OMIM:216820
HP:0001083	Ectopia lentis	1280	COL2A1	ORPHA:93296
HP:0001083	Ectopia lentis	8314	BAP1	ORPHA:39044
HP:0001083	Ectopia lentis	57105	CYSLTR2	ORPHA:39044
HP:0001083	Ectopia lentis	2767	GNA11	ORPHA:39044
HP:0001083	Ectopia lentis	23451	SF3B1	ORPHA:39044
HP:0001083	Ectopia lentis	5076	PAX2	OMIM:120330
HP:0001083	Ectopia lentis	2776	GNAQ	ORPHA:3205
HP:0001084	Corneal arcus	11081	KERA	OMIM:217300
HP:0001084	Corneal arcus	55315	SLC29A3	OMIM:602782
HP:0001084	Corneal arcus	55315	SLC29A3	ORPHA:168569
HP:0001084	Corneal arcus	3931	LCAT	OMIM:245900
HP:0001084	Corneal arcus	255738	PCSK9	OMIM:603776
HP:0001084	Corneal arcus	335	APOA1	OMIM:618463
HP:0001084	Corneal arcus	338	APOB	OMIM:144010
HP:0001084	Corneal arcus	336	APOA2	OMIM:143890
HP:0001084	Corneal arcus	2053	EPHX2	OMIM:143890
HP:0001084	Corneal arcus	10842	PPP1R17	OMIM:143890
HP:0001084	Corneal arcus	3949	LDLR	OMIM:143890
HP:0001084	Corneal arcus	2690	GHR	OMIM:143890
HP:0001084	Corneal arcus	3990	LIPC	OMIM:614025
HP:0001084	Corneal arcus	91851	CHRDL1	OMIM:309300
HP:0001084	Corneal arcus	5832	ALDH18A1	OMIM:219150
HP:0001084	Corneal arcus	348	APOE	ORPHA:412
HP:0001084	Corneal arcus	64241	ABCG8	OMIM:210250
HP:0001085	Papilledema	50964	SOST	OMIM:269500
HP:0001085	Papilledema	50964	SOST	OMIM:122860
HP:0001085	Papilledema	7428	VHL	ORPHA:892
HP:0001085	Papilledema	595	CCND1	ORPHA:892
HP:0001085	Papilledema	26160	IFT172	OMIM:619471
HP:0001085	Papilledema	2629	GBA1	ORPHA:2072
HP:0001085	Papilledema	3423	IDS	OMIM:309900
HP:0001085	Papilledema	3423	IDS	ORPHA:217085
HP:0001085	Papilledema	3423	IDS	ORPHA:217093
HP:0001085	Papilledema	3590	IL11RA	OMIM:614188
HP:0001085	Papilledema	114548	NLRP3	OMIM:191900
HP:0001085	Papilledema	114548	NLRP3	OMIM:607115
HP:0001085	Papilledema	7157	TP53	OMIM:260500
HP:0001085	Papilledema	324	APC	ORPHA:99818
HP:0001085	Papilledema	8314	BAP1	ORPHA:2495
HP:0001085	Papilledema	4771	NF2	ORPHA:2495
HP:0001085	Papilledema	6598	SMARCB1	ORPHA:2495
HP:0001085	Papilledema	5155	PDGFB	ORPHA:2495
HP:0001085	Papilledema	84231	TRAF7	ORPHA:2495
HP:0001085	Papilledema	6608	SMO	ORPHA:2495
HP:0001085	Papilledema	207	AKT1	ORPHA:2495
HP:0001085	Papilledema	5290	PIK3CA	ORPHA:2495
HP:0001085	Papilledema	7015	TERT	ORPHA:2495
HP:0001085	Papilledema	51684	SUFU	ORPHA:2495
HP:0001085	Papilledema	6605	SMARCE1	ORPHA:2495
HP:0001085	Papilledema	63901	FAM111A	OMIM:127000
HP:0001085	Papilledema	63901	FAM111A	ORPHA:93325
HP:0001085	Papilledema	6522	SLC4A2	OMIM:620366
HP:0001085	Papilledema	2260	FGFR1	ORPHA:3366
HP:0001085	Papilledema	158326	FREM1	ORPHA:3366
HP:0001085	Papilledema	4313	MMP2	ORPHA:371428
HP:0001085	Papilledema	4323	MMP14	ORPHA:371428
HP:0001085	Papilledema	7386	UQCRFS1	OMIM:618775
HP:0001085	Papilledema	1499	CTNNB1	ORPHA:54595
HP:0001085	Papilledema	673	BRAF	ORPHA:54595
HP:0001112	Leber optic atrophy	4535	MT-ND1	OMIM:535000
HP:0001112	Leber optic atrophy	4536	MT-ND2	OMIM:535000
HP:0001112	Leber optic atrophy	4538	MT-ND4	OMIM:535000
HP:0001112	Leber optic atrophy	4514	MT-CO3	OMIM:535000
HP:0001112	Leber optic atrophy	4519	MT-CYB	OMIM:535000
HP:0001112	Leber optic atrophy	4508	MT-ATP6	OMIM:535000
HP:0001112	Leber optic atrophy	4540	MT-ND5	OMIM:535000
HP:0001112	Leber optic atrophy	4541	MT-ND6	OMIM:535000
HP:0001112	Leber optic atrophy	4539	MT-ND4L	OMIM:535000
HP:0001112	Leber optic atrophy	4007	PRICKLE3	OMIM:308905
HP:0001087	Developmental glaucoma	7837	PXDN	OMIM:269400
HP:0001087	Developmental glaucoma	2776	GNAQ	OMIM:185300
HP:0001087	Developmental glaucoma	2776	GNAQ	ORPHA:3205
HP:0001087	Developmental glaucoma	220202	ATOH7	OMIM:221900
HP:0001087	Developmental glaucoma	220202	ATOH7	ORPHA:91495
HP:0001087	Developmental glaucoma	4081	MAB21L1	ORPHA:495875
HP:0001087	Developmental glaucoma	4081	MAB21L1	OMIM:618479
HP:0001087	Developmental glaucoma	29954	POMT2	OMIM:613150
HP:0001087	Developmental glaucoma	29954	POMT2	OMIM:236670
HP:0001087	Developmental glaucoma	2530	FUT8	OMIM:618005
HP:0001087	Developmental glaucoma	54892	NCAPG2	OMIM:618460
HP:0001087	Developmental glaucoma	55624	POMGNT1	OMIM:253280
HP:0001087	Developmental glaucoma	4693	NDP	OMIM:310600
HP:0001087	Developmental glaucoma	4693	NDP	ORPHA:91495
HP:0001087	Developmental glaucoma	8322	FZD4	ORPHA:91495
HP:0001087	Developmental glaucoma	4990	SIX6	OMIM:212550
HP:0001087	Developmental glaucoma	1605	DAG1	ORPHA:370997
HP:0001087	Developmental glaucoma	1605	DAG1	OMIM:616538
HP:0001087	Developmental glaucoma	207	AKT1	ORPHA:744
HP:0001087	Developmental glaucoma	92949	ADAMTSL1	ORPHA:521445
HP:0001087	Developmental glaucoma	2263	FGFR2	OMIM:101400
HP:0001087	Developmental glaucoma	7291	TWIST1	OMIM:101400
HP:0001087	Developmental glaucoma	4053	LTBP2	ORPHA:98976
HP:0001087	Developmental glaucoma	4053	LTBP2	OMIM:251750
HP:0001087	Developmental glaucoma	4653	MYOC	ORPHA:98976
HP:0001087	Developmental glaucoma	7010	TEK	ORPHA:98976
HP:0001087	Developmental glaucoma	4952	OCRL	ORPHA:534
HP:0001087	Developmental glaucoma	79147	FKRP	OMIM:236670
HP:0001087	Developmental glaucoma	2218	FKTN	OMIM:236670
HP:0001087	Developmental glaucoma	10585	POMT1	OMIM:236670
HP:0001087	Developmental glaucoma	9215	LARGE1	OMIM:236670
HP:0001087	Developmental glaucoma	9469	CHST3	OMIM:245600
HP:0001087	Developmental glaucoma	26229	B3GAT3	OMIM:245600
HP:0001087	Developmental glaucoma	6138	RPL15	ORPHA:124
HP:0001087	Developmental glaucoma	6224	RPS20	ORPHA:124
HP:0001087	Developmental glaucoma	6165	RPL35A	ORPHA:124
HP:0001087	Developmental glaucoma	6132	RPL8	ORPHA:124
HP:0001087	Developmental glaucoma	6223	RPS19	ORPHA:124
HP:0001087	Developmental glaucoma	6232	RPS27	ORPHA:124
HP:0001087	Developmental glaucoma	55027	HEATR3	ORPHA:124
HP:0001087	Developmental glaucoma	6160	RPL31	ORPHA:124
HP:0001087	Developmental glaucoma	6201	RPS7	ORPHA:124
HP:0001087	Developmental glaucoma	6155	RPL27	ORPHA:124
HP:0001087	Developmental glaucoma	6234	RPS28	ORPHA:124
HP:0001087	Developmental glaucoma	6135	RPL11	ORPHA:124
HP:0001087	Developmental glaucoma	6229	RPS24	ORPHA:124
HP:0001087	Developmental glaucoma	6125	RPL5	ORPHA:124
HP:0001087	Developmental glaucoma	6204	RPS10	ORPHA:124
HP:0001087	Developmental glaucoma	2623	GATA1	ORPHA:124
HP:0001087	Developmental glaucoma	6133	RPL9	ORPHA:124
HP:0001087	Developmental glaucoma	6231	RPS26	ORPHA:124
HP:0001087	Developmental glaucoma	11224	RPL35	ORPHA:124
HP:0001087	Developmental glaucoma	6218	RPS17	ORPHA:124
HP:0001087	Developmental glaucoma	6154	RPL26	ORPHA:124
HP:0001087	Developmental glaucoma	6210	RPS15A	ORPHA:124
HP:0001087	Developmental glaucoma	90121	TSR2	ORPHA:124
HP:0001087	Developmental glaucoma	6141	RPL18	ORPHA:124
HP:0001087	Developmental glaucoma	6235	RPS29	ORPHA:124
HP:0001087	Developmental glaucoma	51816	ADA2	ORPHA:124
HP:0001087	Developmental glaucoma	285590	SH3PXD2B	OMIM:249420
HP:0001087	Developmental glaucoma	1545	CYP1B1	OMIM:617315
HP:0001087	Developmental glaucoma	1545	CYP1B1	ORPHA:708
HP:0001087	Developmental glaucoma	389692	MAFA	OMIM:147630
HP:0001087	Developmental glaucoma	6736	SRY	ORPHA:1772
HP:0001087	Developmental glaucoma	169792	GLIS3	OMIM:610199
HP:0001087	Developmental glaucoma	2301	FOXE3	ORPHA:83461
HP:0001087	Developmental glaucoma	2301	FOXE3	ORPHA:708
HP:0001087	Developmental glaucoma	5831	PYCR1	OMIM:614438
HP:0001087	Developmental glaucoma	5080	PAX6	ORPHA:708
HP:0001087	Developmental glaucoma	5308	PITX2	ORPHA:708
HP:0001087	Developmental glaucoma	2296	FOXC1	ORPHA:708
HP:0001087	Developmental glaucoma	81846	SBF2	ORPHA:99956
HP:0001087	Developmental glaucoma	10535	RNASEH2A	ORPHA:51
HP:0001087	Developmental glaucoma	84153	RNASEH2C	ORPHA:51
HP:0001087	Developmental glaucoma	25939	SAMHD1	ORPHA:51
HP:0001087	Developmental glaucoma	79621	RNASEH2B	ORPHA:51
HP:0001087	Developmental glaucoma	103	ADAR	ORPHA:51
HP:0001087	Developmental glaucoma	11277	TREX1	ORPHA:51
HP:0001087	Developmental glaucoma	100147744	RNU7-1	ORPHA:51
HP:0001087	Developmental glaucoma	134353	LSM11	ORPHA:51
HP:0001087	Developmental glaucoma	64135	IFIH1	ORPHA:51
HP:0001087	Developmental glaucoma	124583	CANT1	OMIM:251450
HP:0001087	Developmental glaucoma	2316	FLNA	ORPHA:90652
HP:0001087	Developmental glaucoma	4010	LMX1B	ORPHA:2614
HP:0001088	Brushfield spots	57479	PRR12	OMIM:619539
HP:0001088	Brushfield spots	5828	PEX2	OMIM:614866
HP:0001088	Brushfield spots	5828	PEX2	ORPHA:912
HP:0001088	Brushfield spots	55670	PEX26	ORPHA:912
HP:0001088	Brushfield spots	5824	PEX19	ORPHA:912
HP:0001088	Brushfield spots	8504	PEX3	ORPHA:912
HP:0001088	Brushfield spots	8799	PEX11B	ORPHA:912
HP:0001088	Brushfield spots	9409	PEX16	ORPHA:912
HP:0001088	Brushfield spots	5190	PEX6	ORPHA:912
HP:0001088	Brushfield spots	5830	PEX5	ORPHA:912
HP:0001088	Brushfield spots	5830	PEX5	OMIM:214110
HP:0001088	Brushfield spots	5189	PEX1	ORPHA:912
HP:0001088	Brushfield spots	5189	PEX1	OMIM:214100
HP:0001088	Brushfield spots	5193	PEX12	ORPHA:912
HP:0001088	Brushfield spots	5194	PEX13	ORPHA:912
HP:0001088	Brushfield spots	5195	PEX14	ORPHA:912
HP:0001088	Brushfield spots	5192	PEX10	ORPHA:912
HP:0001089	Iris atrophy	444	ASPH	OMIM:601552
HP:0001089	Iris atrophy	9839	ZEB2	ORPHA:261552
HP:0001089	Iris atrophy	114902	C1QTNF5	ORPHA:67042
HP:0001089	Iris atrophy	58495	OVOL2	OMIM:122000
HP:0001089	Iris atrophy	6091	ROBO1	OMIM:620305
HP:0001089	Iris atrophy	4041	LRP5	OMIM:259770
HP:0001089	Iris atrophy	1545	CYP1B1	ORPHA:98976
HP:0001089	Iris atrophy	4053	LTBP2	ORPHA:98976
HP:0001089	Iris atrophy	4653	MYOC	ORPHA:98976
HP:0001089	Iris atrophy	7010	TEK	ORPHA:98976
HP:0001089	Iris atrophy	23078	VWA8	OMIM:620422
HP:0001089	Iris atrophy	27235	COQ2	OMIM:146500
HP:0030350	Erythematous papule	84868	HAVCR2	ORPHA:86884
HP:0030350	Erythematous papule	4210	MEFV	ORPHA:3243
HP:0030350	Erythematous papule	5777	PTPN6	ORPHA:3243
HP:0030350	Erythematous papule	56983	POGLUT1	ORPHA:79145
HP:0030350	Erythematous papule	3852	KRT5	ORPHA:79145
HP:0030350	Erythematous papule	3852	KRT5	ORPHA:79400
HP:0030350	Erythematous papule	23509	POFUT1	ORPHA:79145
HP:0030350	Erythematous papule	55851	PSENEN	ORPHA:79145
HP:0030350	Erythematous papule	1294	COL7A1	ORPHA:79410
HP:0030350	Erythematous papule	3861	KRT14	ORPHA:79400
HP:0030350	Erythematous papule	3815	KIT	ORPHA:79455
HP:0030350	Erythematous papule	64421	DCLRE1C	OMIM:602450
HP:0030350	Erythematous papule	7507	XPA	OMIM:278700
HP:0030358	Non-small cell lung carcinoma	7157	TP53	OMIM:151623
HP:0030358	Non-small cell lung carcinoma	7157	TP53	ORPHA:1501
HP:0030358	Non-small cell lung carcinoma	137682	NDUFAF6	OMIM:618913
HP:0030358	Non-small cell lung carcinoma	8314	BAP1	OMIM:614327
HP:0030358	Non-small cell lung carcinoma	84133	ZNRF3	ORPHA:1501
HP:0030358	Non-small cell lung carcinoma	5573	PRKAR1A	ORPHA:1501
HP:0030358	Non-small cell lung carcinoma	1499	CTNNB1	ORPHA:1501
HP:0030358	Non-small cell lung carcinoma	1029	CDKN2A	ORPHA:1501
HP:0030358	Non-small cell lung carcinoma	7015	TERT	ORPHA:1501
HP:0030358	Non-small cell lung carcinoma	161742	SPRED1	ORPHA:137605
HP:0030358	Non-small cell lung carcinoma	5002	SLC22A18	OMIM:211980
HP:0030358	Non-small cell lung carcinoma	1956	EGFR	OMIM:211980
HP:0030358	Non-small cell lung carcinoma	5519	PPP2R1B	OMIM:211980
HP:0030358	Non-small cell lung carcinoma	2074	ERCC6	OMIM:211980
HP:0030358	Non-small cell lung carcinoma	1326	MAP3K8	OMIM:211980
HP:0030358	Non-small cell lung carcinoma	3845	KRAS	OMIM:211980
HP:0030358	Non-small cell lung carcinoma	5071	PRKN	OMIM:211980
HP:0030358	Non-small cell lung carcinoma	1548	CYP2A6	OMIM:211980
HP:0030358	Non-small cell lung carcinoma	2064	ERBB2	OMIM:211980
HP:0030358	Non-small cell lung carcinoma	673	BRAF	OMIM:211980
HP:0030358	Non-small cell lung carcinoma	3659	IRF1	OMIM:211980
HP:0030358	Non-small cell lung carcinoma	841	CASP8	OMIM:211980
HP:0030358	Non-small cell lung carcinoma	356	FASLG	OMIM:211980
HP:0030358	Non-small cell lung carcinoma	5290	PIK3CA	OMIM:211980
HP:0030357	Small cell lung carcinoma	64324	NSD1	ORPHA:821
HP:0030357	Small cell lung carcinoma	10297	APC2	ORPHA:821
HP:0030356	Increased circulating interferon-gamma concentration	5551	PRF1	ORPHA:540
HP:0030356	Increased circulating interferon-gamma concentration	8676	STX11	ORPHA:540
HP:0030356	Increased circulating interferon-gamma concentration	201294	UNC13D	ORPHA:540
HP:0030356	Increased circulating interferon-gamma concentration	6813	STXBP2	ORPHA:540
HP:0030356	Increased circulating interferon-gamma concentration	25939	SAMHD1	OMIM:612952
HP:0030356	Increased circulating interferon-gamma concentration	25939	SAMHD1	ORPHA:51
HP:0030356	Increased circulating interferon-gamma concentration	5696	PSMB8	OMIM:256040
HP:0030356	Increased circulating interferon-gamma concentration	5698	PSMB9	OMIM:620796
HP:0030356	Increased circulating interferon-gamma concentration	10535	RNASEH2A	ORPHA:51
HP:0030356	Increased circulating interferon-gamma concentration	84153	RNASEH2C	ORPHA:51
HP:0030356	Increased circulating interferon-gamma concentration	79621	RNASEH2B	ORPHA:51
HP:0030356	Increased circulating interferon-gamma concentration	103	ADAR	ORPHA:51
HP:0030356	Increased circulating interferon-gamma concentration	11277	TREX1	ORPHA:51
HP:0030356	Increased circulating interferon-gamma concentration	100147744	RNU7-1	ORPHA:51
HP:0030356	Increased circulating interferon-gamma concentration	134353	LSM11	ORPHA:51
HP:0030356	Increased circulating interferon-gamma concentration	64135	IFIH1	ORPHA:51
HP:0030356	Increased circulating interferon-gamma concentration	6775	STAT4	ORPHA:85410
HP:0030356	Increased circulating interferon-gamma concentration	3560	IL2RB	ORPHA:85410
HP:0030356	Increased circulating interferon-gamma concentration	79722	ANKRD55	ORPHA:85410
HP:0030356	Increased circulating interferon-gamma concentration	26191	PTPN22	ORPHA:85410
HP:0030356	Increased circulating interferon-gamma concentration	919	CD247	ORPHA:85410
HP:0030356	Increased circulating interferon-gamma concentration	3559	IL2RA	ORPHA:85410
HP:0030356	Increased circulating interferon-gamma concentration	5771	PTPN2	ORPHA:85410
HP:0030355	Abnormal circulating interferon-gamma concentration	6772	STAT1	ORPHA:391487
HP:0030355	Abnormal circulating interferon-gamma concentration	3431	SP110	ORPHA:79124
HP:0030355	Abnormal circulating interferon-gamma concentration	5551	PRF1	ORPHA:540
HP:0030355	Abnormal circulating interferon-gamma concentration	8676	STX11	ORPHA:540
HP:0030355	Abnormal circulating interferon-gamma concentration	201294	UNC13D	ORPHA:540
HP:0030355	Abnormal circulating interferon-gamma concentration	6813	STXBP2	ORPHA:540
HP:0030355	Abnormal circulating interferon-gamma concentration	25939	SAMHD1	OMIM:612952
HP:0030355	Abnormal circulating interferon-gamma concentration	25939	SAMHD1	ORPHA:51
HP:0030355	Abnormal circulating interferon-gamma concentration	5696	PSMB8	OMIM:256040
HP:0030355	Abnormal circulating interferon-gamma concentration	5698	PSMB9	OMIM:620796
HP:0030355	Abnormal circulating interferon-gamma concentration	10535	RNASEH2A	ORPHA:51
HP:0030355	Abnormal circulating interferon-gamma concentration	84153	RNASEH2C	ORPHA:51
HP:0030355	Abnormal circulating interferon-gamma concentration	79621	RNASEH2B	ORPHA:51
HP:0030355	Abnormal circulating interferon-gamma concentration	103	ADAR	ORPHA:51
HP:0030355	Abnormal circulating interferon-gamma concentration	11277	TREX1	ORPHA:51
HP:0030355	Abnormal circulating interferon-gamma concentration	100147744	RNU7-1	ORPHA:51
HP:0030355	Abnormal circulating interferon-gamma concentration	134353	LSM11	ORPHA:51
HP:0030355	Abnormal circulating interferon-gamma concentration	64135	IFIH1	ORPHA:51
HP:0030355	Abnormal circulating interferon-gamma concentration	6775	STAT4	ORPHA:85410
HP:0030355	Abnormal circulating interferon-gamma concentration	3560	IL2RB	ORPHA:85410
HP:0030355	Abnormal circulating interferon-gamma concentration	79722	ANKRD55	ORPHA:85410
HP:0030355	Abnormal circulating interferon-gamma concentration	26191	PTPN22	ORPHA:85410
HP:0030355	Abnormal circulating interferon-gamma concentration	919	CD247	ORPHA:85410
HP:0030355	Abnormal circulating interferon-gamma concentration	3559	IL2RA	ORPHA:85410
HP:0030355	Abnormal circulating interferon-gamma concentration	5771	PTPN2	ORPHA:85410
HP:0030355	Abnormal circulating interferon-gamma concentration	5422	POLA1	OMIM:301220
HP:0011116	Abnormal circulating interferon concentration	6772	STAT1	ORPHA:391487
HP:0011116	Abnormal circulating interferon concentration	3431	SP110	ORPHA:79124
HP:0011116	Abnormal circulating interferon concentration	5551	PRF1	ORPHA:540
HP:0011116	Abnormal circulating interferon concentration	8676	STX11	ORPHA:540
HP:0011116	Abnormal circulating interferon concentration	201294	UNC13D	ORPHA:540
HP:0011116	Abnormal circulating interferon concentration	6813	STXBP2	ORPHA:540
HP:0011116	Abnormal circulating interferon concentration	25939	SAMHD1	OMIM:612952
HP:0011116	Abnormal circulating interferon concentration	25939	SAMHD1	ORPHA:51
HP:0011116	Abnormal circulating interferon concentration	5696	PSMB8	OMIM:256040
HP:0011116	Abnormal circulating interferon concentration	5698	PSMB9	OMIM:620796
HP:0011116	Abnormal circulating interferon concentration	10535	RNASEH2A	ORPHA:51
HP:0011116	Abnormal circulating interferon concentration	84153	RNASEH2C	ORPHA:51
HP:0011116	Abnormal circulating interferon concentration	79621	RNASEH2B	ORPHA:51
HP:0011116	Abnormal circulating interferon concentration	11277	TREX1	ORPHA:51
HP:0011116	Abnormal circulating interferon concentration	100147744	RNU7-1	ORPHA:51
HP:0011116	Abnormal circulating interferon concentration	134353	LSM11	ORPHA:51
HP:0011116	Abnormal circulating interferon concentration	64135	IFIH1	ORPHA:51
HP:0011116	Abnormal circulating interferon concentration	6775	STAT4	ORPHA:85410
HP:0011116	Abnormal circulating interferon concentration	3560	IL2RB	ORPHA:85410
HP:0011116	Abnormal circulating interferon concentration	79722	ANKRD55	ORPHA:85410
HP:0011116	Abnormal circulating interferon concentration	26191	PTPN22	ORPHA:85410
HP:0011116	Abnormal circulating interferon concentration	919	CD247	ORPHA:85410
HP:0011116	Abnormal circulating interferon concentration	3559	IL2RA	ORPHA:85410
HP:0011116	Abnormal circulating interferon concentration	5771	PTPN2	ORPHA:85410
HP:0011116	Abnormal circulating interferon concentration	5422	POLA1	OMIM:301220
HP:0011116	Abnormal circulating interferon concentration	103	ADAR	OMIM:615010
HP:0030353	Decreased serum insulin-like growth factor 1	9968	MED12	OMIM:301068
HP:0030353	Decreased serum insulin-like growth factor 1	2592	GALT	ORPHA:79239
HP:0030353	Decreased serum insulin-like growth factor 1	23387	SIK3	OMIM:618162
HP:0030353	Decreased serum insulin-like growth factor 1	55131	RBM28	ORPHA:157954
HP:0030353	Decreased serum insulin-like growth factor 1	4791	NFKB2	ORPHA:293978
HP:0030353	Decreased serum insulin-like growth factor 1	6609	SMPD1	ORPHA:77293
HP:0030353	Decreased serum insulin-like growth factor 1	9851	KIAA0753	OMIM:619476
HP:0030353	Decreased serum insulin-like growth factor 1	1763	DNA2	OMIM:620819
HP:0030353	Decreased serum insulin-like growth factor 1	3483	IGFALS	ORPHA:140941
HP:0030353	Decreased serum insulin-like growth factor 1	3483	IGFALS	OMIM:615961
HP:0030353	Decreased serum insulin-like growth factor 1	6777	STAT5B	OMIM:618985
HP:0030353	Decreased serum insulin-like growth factor 1	5236	PGM1	OMIM:614921
HP:0030353	Decreased serum insulin-like growth factor 1	2688	GH1	OMIM:173100
HP:0030353	Decreased serum insulin-like growth factor 1	2688	GH1	OMIM:262400
HP:0030353	Decreased serum insulin-like growth factor 1	6091	ROBO1	OMIM:620303
HP:0030353	Decreased serum insulin-like growth factor 1	2690	GHR	ORPHA:314802
HP:0030353	Decreased serum insulin-like growth factor 1	2690	GHR	OMIM:604271
HP:0030353	Decreased serum insulin-like growth factor 1	2690	GHR	OMIM:262500
HP:0030353	Decreased serum insulin-like growth factor 1	9526	MPDU1	ORPHA:79323
HP:0030353	Decreased serum insulin-like growth factor 1	79087	ALG12	ORPHA:79324
HP:0030353	Decreased serum insulin-like growth factor 1	1513	CTSK	ORPHA:763
HP:0030353	Decreased serum insulin-like growth factor 1	3479	IGF1	OMIM:608747
HP:0030353	Decreased serum insulin-like growth factor 1	80067	DCAF17	OMIM:241080
HP:0030353	Decreased serum insulin-like growth factor 1	2692	GHRHR	OMIM:618157
HP:0030353	Decreased serum insulin-like growth factor 1	6658	SOX3	ORPHA:67045
HP:0030353	Decreased serum insulin-like growth factor 1	113179	ADAT3	ORPHA:363528
HP:0030353	Decreased serum insulin-like growth factor 1	55784	MCTP2	ORPHA:1596
HP:0030353	Decreased serum insulin-like growth factor 1	2693	GHSR	ORPHA:314811
HP:0030352	Abnormal serum insulin-like growth factor 1 level	4221	MEN1	ORPHA:99725
HP:0030352	Abnormal serum insulin-like growth factor 1 level	9049	AIP	ORPHA:99725
HP:0030352	Abnormal serum insulin-like growth factor 1 level	9049	AIP	ORPHA:963
HP:0030352	Abnormal serum insulin-like growth factor 1 level	9049	AIP	OMIM:102200
HP:0030352	Abnormal serum insulin-like growth factor 1 level	3480	IGF1R	OMIM:270450
HP:0030352	Abnormal serum insulin-like growth factor 1 level	83550	GPR101	ORPHA:963
HP:0030352	Abnormal serum insulin-like growth factor 1 level	83550	GPR101	OMIM:300942
HP:0030352	Abnormal serum insulin-like growth factor 1 level	5573	PRKAR1A	ORPHA:1359
HP:0030352	Abnormal serum insulin-like growth factor 1 level	50940	PDE11A	ORPHA:1359
HP:0030352	Abnormal serum insulin-like growth factor 1 level	55343	SLC35C1	OMIM:266265
HP:0030352	Abnormal serum insulin-like growth factor 1 level	9968	MED12	OMIM:301068
HP:0030352	Abnormal serum insulin-like growth factor 1 level	2592	GALT	ORPHA:79239
HP:0030352	Abnormal serum insulin-like growth factor 1 level	23387	SIK3	OMIM:618162
HP:0030352	Abnormal serum insulin-like growth factor 1 level	55131	RBM28	ORPHA:157954
HP:0030352	Abnormal serum insulin-like growth factor 1 level	4791	NFKB2	ORPHA:293978
HP:0030352	Abnormal serum insulin-like growth factor 1 level	6609	SMPD1	ORPHA:77293
HP:0030352	Abnormal serum insulin-like growth factor 1 level	9851	KIAA0753	OMIM:619476
HP:0030352	Abnormal serum insulin-like growth factor 1 level	1763	DNA2	OMIM:620819
HP:0030352	Abnormal serum insulin-like growth factor 1 level	3483	IGFALS	ORPHA:140941
HP:0030352	Abnormal serum insulin-like growth factor 1 level	3483	IGFALS	OMIM:615961
HP:0030352	Abnormal serum insulin-like growth factor 1 level	6777	STAT5B	OMIM:618985
HP:0030352	Abnormal serum insulin-like growth factor 1 level	5236	PGM1	OMIM:614921
HP:0030352	Abnormal serum insulin-like growth factor 1 level	2688	GH1	OMIM:173100
HP:0030352	Abnormal serum insulin-like growth factor 1 level	2688	GH1	OMIM:262400
HP:0030352	Abnormal serum insulin-like growth factor 1 level	6091	ROBO1	OMIM:620303
HP:0030352	Abnormal serum insulin-like growth factor 1 level	2690	GHR	ORPHA:314802
HP:0030352	Abnormal serum insulin-like growth factor 1 level	2690	GHR	OMIM:604271
HP:0030352	Abnormal serum insulin-like growth factor 1 level	2690	GHR	OMIM:262500
HP:0030352	Abnormal serum insulin-like growth factor 1 level	9526	MPDU1	ORPHA:79323
HP:0030352	Abnormal serum insulin-like growth factor 1 level	79087	ALG12	ORPHA:79324
HP:0030352	Abnormal serum insulin-like growth factor 1 level	1513	CTSK	ORPHA:763
HP:0030352	Abnormal serum insulin-like growth factor 1 level	3479	IGF1	OMIM:608747
HP:0030352	Abnormal serum insulin-like growth factor 1 level	80067	DCAF17	OMIM:241080
HP:0030352	Abnormal serum insulin-like growth factor 1 level	2692	GHRHR	OMIM:618157
HP:0030352	Abnormal serum insulin-like growth factor 1 level	6658	SOX3	ORPHA:67045
HP:0030352	Abnormal serum insulin-like growth factor 1 level	113179	ADAT3	ORPHA:363528
HP:0030352	Abnormal serum insulin-like growth factor 1 level	55784	MCTP2	ORPHA:1596
HP:0030352	Abnormal serum insulin-like growth factor 1 level	2693	GHSR	ORPHA:314811
HP:0030362	Reduced muscle carnitine level	6584	SLC22A5	OMIM:212140
HP:0030361	Abnormal circulating eicosanoid concentration	6557	SLC12A1	OMIM:601678
HP:0030361	Abnormal circulating eicosanoid concentration	3758	KCNJ1	OMIM:241200
HP:0030361	Abnormal circulating eicosanoid concentration	5321	PLA2G4A	OMIM:618372
HP:0030361	Abnormal circulating eicosanoid concentration	4056	LTC4S	OMIM:614037
HP:0030369	Induced vaginal delivery	1583	CYP11A1	ORPHA:289548
HP:0030369	Induced vaginal delivery	1583	CYP11A1	ORPHA:168558
HP:0030368	Hyperphalangy of the 2nd finger	23483	TGDS	OMIM:616145
HP:0030367	Finger hyperphalangy	2077	ERF	OMIM:617180
HP:0030367	Finger hyperphalangy	23483	TGDS	OMIM:616145
HP:0030373	Abnormal proportion of memory B cells	1503	CTPS1	OMIM:615897
HP:0030373	Abnormal proportion of memory B cells	5580	PRKCD	OMIM:615559
HP:0030373	Abnormal proportion of memory B cells	2000	ELF4	OMIM:301074
HP:0030373	Abnormal proportion of memory B cells	3551	IKBKB	OMIM:618204
HP:0030373	Abnormal proportion of memory B cells	9138	ARHGEF1	OMIM:618459
HP:0030373	Abnormal proportion of memory B cells	10043	TOM1	OMIM:619510
HP:0030373	Abnormal proportion of memory B cells	51371	POMP	OMIM:618048
HP:0030373	Abnormal proportion of memory B cells	3431	SP110	ORPHA:79124
HP:0030373	Abnormal proportion of memory B cells	60468	BACH2	OMIM:618394
HP:0030373	Abnormal proportion of memory B cells	8085	KMT2D	OMIM:147920
HP:0030373	Abnormal proportion of memory B cells	7403	KDM6A	OMIM:147920
HP:0030373	Abnormal proportion of memory B cells	5966	REL	OMIM:619652
HP:0030373	Abnormal proportion of memory B cells	54790	TET2	OMIM:619126
HP:0030373	Abnormal proportion of memory B cells	930	CD19	OMIM:613493
HP:0030373	Abnormal proportion of memory B cells	3937	LCP2	OMIM:619374
HP:0030373	Abnormal proportion of memory B cells	8651	SOCS1	OMIM:619375
HP:0030373	Abnormal proportion of memory B cells	23308	ICOSLG	OMIM:620825
HP:0030373	Abnormal proportion of memory B cells	10525	HYOU1	OMIM:233600
HP:0030373	Abnormal proportion of memory B cells	96459	FNIP1	OMIM:619705
HP:0030373	Abnormal proportion of memory B cells	359948	IRF2BP2	OMIM:617765
HP:0030373	Abnormal proportion of memory B cells	9020	MAP3K14	OMIM:620449
HP:0030373	Abnormal proportion of memory B cells	5336	PLCG2	OMIM:614878
HP:0030373	Abnormal proportion of memory B cells	5293	PIK3CD	OMIM:615513
HP:0030373	Abnormal proportion of memory B cells	3570	IL6R	OMIM:618944
HP:0030373	Abnormal proportion of memory B cells	987	LRBA	OMIM:614700
HP:0030373	Abnormal proportion of memory B cells	59067	IL21	OMIM:615767
HP:0030373	Abnormal proportion of memory B cells	56259	CTNNBL1	OMIM:619846
HP:0030373	Abnormal proportion of memory B cells	29851	ICOS	OMIM:607594
HP:0001090	Abnormally large globe	7837	PXDN	OMIM:269400
HP:0001090	Abnormally large globe	2776	GNAQ	OMIM:185300
HP:0001090	Abnormally large globe	2776	GNAQ	ORPHA:3205
HP:0001090	Abnormally large globe	220202	ATOH7	OMIM:221900
HP:0001090	Abnormally large globe	220202	ATOH7	ORPHA:91495
HP:0001090	Abnormally large globe	4081	MAB21L1	ORPHA:495875
HP:0001090	Abnormally large globe	4081	MAB21L1	OMIM:618479
HP:0001090	Abnormally large globe	29954	POMT2	OMIM:613150
HP:0001090	Abnormally large globe	29954	POMT2	OMIM:236670
HP:0001090	Abnormally large globe	2530	FUT8	OMIM:618005
HP:0001090	Abnormally large globe	54892	NCAPG2	OMIM:618460
HP:0001090	Abnormally large globe	55624	POMGNT1	OMIM:253280
HP:0001090	Abnormally large globe	4693	NDP	OMIM:310600
HP:0001090	Abnormally large globe	4693	NDP	ORPHA:91495
HP:0001090	Abnormally large globe	81846	SBF2	ORPHA:99956
HP:0001090	Abnormally large globe	8322	FZD4	ORPHA:91495
HP:0001090	Abnormally large globe	4990	SIX6	OMIM:212550
HP:0001090	Abnormally large globe	1605	DAG1	ORPHA:370997
HP:0001090	Abnormally large globe	1605	DAG1	OMIM:616538
HP:0001090	Abnormally large globe	207	AKT1	ORPHA:744
HP:0001090	Abnormally large globe	92949	ADAMTSL1	ORPHA:521445
HP:0001090	Abnormally large globe	1545	CYP1B1	OMIM:231300
HP:0001090	Abnormally large globe	1545	CYP1B1	ORPHA:98976
HP:0001090	Abnormally large globe	169792	GLIS3	OMIM:610199
HP:0001090	Abnormally large globe	7291	TWIST1	OMIM:101400
HP:0001090	Abnormally large globe	4053	LTBP2	ORPHA:98976
HP:0001090	Abnormally large globe	4053	LTBP2	OMIM:251750
HP:0001090	Abnormally large globe	4653	MYOC	ORPHA:98976
HP:0001090	Abnormally large globe	7010	TEK	ORPHA:98976
HP:0001090	Abnormally large globe	4952	OCRL	ORPHA:534
HP:0001090	Abnormally large globe	79147	FKRP	OMIM:236670
HP:0001090	Abnormally large globe	2218	FKTN	OMIM:236670
HP:0001090	Abnormally large globe	10585	POMT1	OMIM:236670
HP:0001090	Abnormally large globe	9215	LARGE1	OMIM:236670
HP:0001090	Abnormally large globe	5296	PIK3R2	OMIM:603387
HP:0001090	Abnormally large globe	3763	KCNJ6	ORPHA:435628
HP:0001090	Abnormally large globe	3763	KCNJ6	OMIM:614098
HP:0001090	Abnormally large globe	22856	CHSY1	ORPHA:363417
HP:0001090	Abnormally large globe	80204	FBXO11	OMIM:618089
HP:0001090	Abnormally large globe	8573	CASK	OMIM:300749
HP:0001090	Abnormally large globe	80232	WDR26	OMIM:617616
HP:0001090	Abnormally large globe	91801	ALKBH8	OMIM:618504
HP:0001090	Abnormally large globe	9469	CHST3	OMIM:245600
HP:0001090	Abnormally large globe	26229	B3GAT3	OMIM:245600
HP:0001090	Abnormally large globe	1280	COL2A1	OMIM:200610
HP:0001090	Abnormally large globe	285590	SH3PXD2B	OMIM:249420
HP:0001090	Abnormally large globe	170302	ARX	OMIM:300004
HP:0001090	Abnormally large globe	3758	KCNJ1	OMIM:241200
HP:0001090	Abnormally large globe	2263	FGFR2	OMIM:614592
HP:0001090	Abnormally large globe	545	ATR	OMIM:210600
HP:0001090	Abnormally large globe	84197	POMK	OMIM:615249
HP:0001090	Abnormally large globe	26834	RNU4-2	OMIM:620851
HP:0001090	Abnormally large globe	55650	PIGV	OMIM:239300
HP:0001090	Abnormally large globe	29894	CPSF1	OMIM:618827
HP:0001090	Abnormally large globe	2200	FBN1	OMIM:154700
HP:0001090	Abnormally large globe	9997	SCO2	OMIM:608908
HP:0001090	Abnormally large globe	4043	LRPAP1	OMIM:615431
HP:0007663	Reduced visual acuity	54539	NDUFB11	ORPHA:2609
HP:0007663	Reduced visual acuity	54539	NDUFB11	ORPHA:2556
HP:0007663	Reduced visual acuity	25915	NDUFAF3	ORPHA:2609
HP:0007663	Reduced visual acuity	51103	NDUFAF1	ORPHA:2609
HP:0007663	Reduced visual acuity	91942	NDUFAF2	ORPHA:2609
HP:0007663	Reduced visual acuity	51300	TIMMDC1	ORPHA:2609
HP:0007663	Reduced visual acuity	4716	NDUFB10	ORPHA:2609
HP:0007663	Reduced visual acuity	4723	NDUFV1	ORPHA:2609
HP:0007663	Reduced visual acuity	4723	NDUFV1	OMIM:618225
HP:0007663	Reduced visual acuity	55572	FOXRED1	ORPHA:2609
HP:0007663	Reduced visual acuity	284184	NDUFAF8	ORPHA:2609
HP:0007663	Reduced visual acuity	55863	TMEM126B	ORPHA:2609
HP:0007663	Reduced visual acuity	4535	MT-ND1	ORPHA:2609
HP:0007663	Reduced visual acuity	4537	MT-ND3	ORPHA:2609
HP:0007663	Reduced visual acuity	4729	NDUFV2	ORPHA:2609
HP:0007663	Reduced visual acuity	4694	NDUFA1	ORPHA:2609
HP:0007663	Reduced visual acuity	4720	NDUFS2	ORPHA:2609
HP:0007663	Reduced visual acuity	4724	NDUFS4	ORPHA:2609
HP:0007663	Reduced visual acuity	4724	NDUFS4	OMIM:252010
HP:0007663	Reduced visual acuity	4726	NDUFS6	ORPHA:2609
HP:0007663	Reduced visual acuity	4728	NDUFS8	ORPHA:2609
HP:0007663	Reduced visual acuity	4722	NDUFS3	ORPHA:2609
HP:0007663	Reduced visual acuity	79133	NDUFAF5	ORPHA:2609
HP:0007663	Reduced visual acuity	126328	NDUFA11	ORPHA:2609
HP:0007663	Reduced visual acuity	4709	NDUFB3	ORPHA:2609
HP:0007663	Reduced visual acuity	80224	NUBPL	ORPHA:2609
HP:0007663	Reduced visual acuity	29078	NDUFAF4	ORPHA:2609
HP:0007663	Reduced visual acuity	374291	NDUFS7	ORPHA:2609
HP:0007663	Reduced visual acuity	4700	NDUFA6	ORPHA:2609
HP:0007663	Reduced visual acuity	4536	MT-ND2	ORPHA:2609
HP:0007663	Reduced visual acuity	4719	NDUFS1	ORPHA:2609
HP:0007663	Reduced visual acuity	4715	NDUFB9	ORPHA:2609
HP:0007663	Reduced visual acuity	341640	FREM2	ORPHA:2052
HP:0007663	Reduced visual acuity	80144	FRAS1	ORPHA:2052
HP:0007663	Reduced visual acuity	80144	FRAS1	OMIM:219000
HP:0007663	Reduced visual acuity	23426	GRIP1	ORPHA:2052
HP:0007663	Reduced visual acuity	5351	PLOD1	OMIM:225400
HP:0007663	Reduced visual acuity	2778	GNAS	OMIM:174800
HP:0007663	Reduced visual acuity	51569	UFM1	OMIM:617899
HP:0007663	Reduced visual acuity	10312	TCIRG1	OMIM:259700
HP:0007663	Reduced visual acuity	652	BMP4	ORPHA:828
HP:0007663	Reduced visual acuity	652	BMP4	OMIM:607932
HP:0007663	Reduced visual acuity	54820	NDE1	ORPHA:2177
HP:0007663	Reduced visual acuity	5309	PITX3	OMIM:610623
HP:0007663	Reduced visual acuity	23126	POGZ	ORPHA:468678
HP:0007663	Reduced visual acuity	3073	HEXA	OMIM:272800
HP:0007663	Reduced visual acuity	6720	SREBF1	OMIM:158310
HP:0007663	Reduced visual acuity	4552	MTRR	OMIM:236270
HP:0007663	Reduced visual acuity	2581	GALC	ORPHA:206443
HP:0007663	Reduced visual acuity	2581	GALC	ORPHA:206436
HP:0007663	Reduced visual acuity	2581	GALC	OMIM:245200
HP:0007663	Reduced visual acuity	57465	TBC1D24	OMIM:220500
HP:0007663	Reduced visual acuity	478	ATP1A3	OMIM:601338
HP:0007663	Reduced visual acuity	3074	HEXB	OMIM:268800
HP:0007663	Reduced visual acuity	4221	MEN1	ORPHA:2965
HP:0007663	Reduced visual acuity	64072	CDH23	ORPHA:2965
HP:0007663	Reduced visual acuity	64072	CDH23	ORPHA:91347
HP:0007663	Reduced visual acuity	9049	AIP	ORPHA:2965
HP:0007663	Reduced visual acuity	9915	ARNT2	OMIM:615926
HP:0007663	Reduced visual acuity	443	ASPA	ORPHA:314911
HP:0007663	Reduced visual acuity	443	ASPA	OMIM:271900
HP:0007663	Reduced visual acuity	2720	GLB1	ORPHA:79255
HP:0007663	Reduced visual acuity	29954	POMT2	OMIM:236670
HP:0007663	Reduced visual acuity	29954	POMT2	ORPHA:370959
HP:0007663	Reduced visual acuity	79147	FKRP	OMIM:236670
HP:0007663	Reduced visual acuity	79147	FKRP	ORPHA:370959
HP:0007663	Reduced visual acuity	2218	FKTN	OMIM:236670
HP:0007663	Reduced visual acuity	10585	POMT1	OMIM:236670
HP:0007663	Reduced visual acuity	10585	POMT1	ORPHA:370959
HP:0007663	Reduced visual acuity	9215	LARGE1	OMIM:236670
HP:0007663	Reduced visual acuity	4942	OAT	ORPHA:414
HP:0007663	Reduced visual acuity	4942	OAT	OMIM:258870
HP:0007663	Reduced visual acuity	4509	MT-ATP8	ORPHA:254913
HP:0007663	Reduced visual acuity	514	ATP5F1E	ORPHA:254913
HP:0007663	Reduced visual acuity	513	ATP5F1D	ORPHA:254913
HP:0007663	Reduced visual acuity	498	ATP5F1A	ORPHA:254913
HP:0007663	Reduced visual acuity	4508	MT-ATP6	ORPHA:254913
HP:0007663	Reduced visual acuity	4508	MT-ATP6	OMIM:551500
HP:0007663	Reduced visual acuity	4508	MT-ATP6	ORPHA:644
HP:0007663	Reduced visual acuity	84833	ATP5MK	ORPHA:254913
HP:0007663	Reduced visual acuity	91647	ATPAF2	ORPHA:254913
HP:0007663	Reduced visual acuity	22897	CEP164	OMIM:614845
HP:0007663	Reduced visual acuity	5631	PRPS1	ORPHA:1187
HP:0007663	Reduced visual acuity	5190	PEX6	ORPHA:95433
HP:0007663	Reduced visual acuity	9361	LONP1	ORPHA:79243
HP:0007663	Reduced visual acuity	5160	PDHA1	ORPHA:79243
HP:0007663	Reduced visual acuity	8398	PLA2G6	ORPHA:35069
HP:0007663	Reduced visual acuity	7840	ALMS1	OMIM:203800
HP:0007663	Reduced visual acuity	7840	ALMS1	ORPHA:64
HP:0007663	Reduced visual acuity	546	ATRX	ORPHA:847
HP:0007663	Reduced visual acuity	5428	POLG	ORPHA:726
HP:0007663	Reduced visual acuity	79583	TMEM231	ORPHA:2318
HP:0007663	Reduced visual acuity	51524	TMEM138	ORPHA:2318
HP:0007663	Reduced visual acuity	23090	ZNF423	ORPHA:2318
HP:0007663	Reduced visual acuity	51259	TMEM216	ORPHA:2318
HP:0007663	Reduced visual acuity	65062	TMEM237	ORPHA:2318
HP:0007663	Reduced visual acuity	7389	UROD	ORPHA:95159
HP:0007663	Reduced visual acuity	1349	COX7B	ORPHA:2556
HP:0007663	Reduced visual acuity	3052	HCCS	ORPHA:2556
HP:0007663	Reduced visual acuity	60	ACTB	ORPHA:79107
HP:0007663	Reduced visual acuity	4547	MTTP	ORPHA:14
HP:0007663	Reduced visual acuity	27316	RBMX	OMIM:309555
HP:0007663	Reduced visual acuity	114548	NLRP3	ORPHA:1451
HP:0007663	Reduced visual acuity	5230	PGK1	ORPHA:713
HP:0007663	Reduced visual acuity	1974	EIF4A2	OMIM:620455
HP:0007663	Reduced visual acuity	26834	RNU4-2	OMIM:620851
HP:0007663	Reduced visual acuity	4548	MTR	OMIM:250940
HP:0007663	Reduced visual acuity	4763	NF1	ORPHA:97685
HP:0007663	Reduced visual acuity	56244	BTNL2	ORPHA:797
HP:0007663	Reduced visual acuity	3123	HLA-DRB1	ORPHA:797
HP:0007663	Reduced visual acuity	28982	FLVCR1	OMIM:609033
HP:0007663	Reduced visual acuity	81794	ADAMTS10	OMIM:277600
HP:0007663	Reduced visual acuity	3028	HSD17B10	ORPHA:391428
HP:0007663	Reduced visual acuity	23347	SMCHD1	ORPHA:2250
HP:0007663	Reduced visual acuity	54880	BCOR	OMIM:309800
HP:0007663	Reduced visual acuity	8260	NAA10	OMIM:309800
HP:0007663	Reduced visual acuity	3257	HPS1	OMIM:203300
HP:0007663	Reduced visual acuity	8314	BAP1	ORPHA:2495
HP:0007663	Reduced visual acuity	6598	SMARCB1	ORPHA:2495
HP:0007663	Reduced visual acuity	5155	PDGFB	ORPHA:2495
HP:0007663	Reduced visual acuity	84231	TRAF7	ORPHA:2495
HP:0007663	Reduced visual acuity	6608	SMO	ORPHA:2495
HP:0007663	Reduced visual acuity	207	AKT1	ORPHA:2495
HP:0007663	Reduced visual acuity	5290	PIK3CA	ORPHA:2495
HP:0007663	Reduced visual acuity	7015	TERT	ORPHA:2495
HP:0007663	Reduced visual acuity	51684	SUFU	ORPHA:2495
HP:0007663	Reduced visual acuity	6605	SMARCE1	ORPHA:2495
HP:0007663	Reduced visual acuity	1280	COL2A1	OMIM:108300
HP:0007663	Reduced visual acuity	29925	GMPPB	ORPHA:370959
HP:0007663	Reduced visual acuity	726	CAPN5	OMIM:193235
HP:0007663	Reduced visual acuity	7078	TIMP3	OMIM:136900
HP:0007663	Reduced visual acuity	7078	TIMP3	ORPHA:59181
HP:0007663	Reduced visual acuity	11041	B4GAT1	OMIM:615287
HP:0007663	Reduced visual acuity	2232	FDXR	ORPHA:543470
HP:0007663	Reduced visual acuity	5627	PROS1	OMIM:614514
HP:0007663	Reduced visual acuity	5340	PLG	OMIM:217090
HP:0007663	Reduced visual acuity	2811	GP1BA	ORPHA:853
HP:0007663	Reduced visual acuity	2812	GP1BB	ORPHA:853
HP:0007663	Reduced visual acuity	3674	ITGA2B	ORPHA:853
HP:0007663	Reduced visual acuity	3673	ITGA2	ORPHA:853
HP:0007663	Reduced visual acuity	135228	CD109	ORPHA:853
HP:0007663	Reduced visual acuity	3690	ITGB3	ORPHA:853
HP:0007663	Reduced visual acuity	5296	PIK3R2	OMIM:603387
HP:0007663	Reduced visual acuity	10084	PQBP1	OMIM:309500
HP:0007663	Reduced visual acuity	80025	PANK2	ORPHA:216873
HP:0007663	Reduced visual acuity	80025	PANK2	ORPHA:216866
HP:0007663	Reduced visual acuity	440	ASNS	OMIM:615574
HP:0007663	Reduced visual acuity	5538	PPT1	OMIM:256730
HP:0007663	Reduced visual acuity	9928	KIF14	OMIM:617914
HP:0007663	Reduced visual acuity	91147	TMEM67	OMIM:610688
HP:0007663	Reduced visual acuity	2072	ERCC4	OMIM:610965
HP:0007663	Reduced visual acuity	2776	GNAQ	ORPHA:3205
HP:0007663	Reduced visual acuity	1967	EIF2B1	OMIM:603896
HP:0007663	Reduced visual acuity	148789	B3GALNT2	OMIM:615181
HP:0007663	Reduced visual acuity	1387	CREBBP	OMIM:618332
HP:0007663	Reduced visual acuity	57647	DHX37	OMIM:618731
HP:0007663	Reduced visual acuity	80169	CTC1	OMIM:612199
HP:0007663	Reduced visual acuity	2706	GJB2	OMIM:148210
HP:0007663	Reduced visual acuity	6323	SCN1A	OMIM:609634
HP:0007663	Reduced visual acuity	7390	UROS	ORPHA:79277
HP:0007663	Reduced visual acuity	2623	GATA1	ORPHA:79277
HP:0007663	Reduced visual acuity	2760	GM2A	OMIM:272750
HP:0007663	Reduced visual acuity	8600	TNFSF11	OMIM:259710
HP:0007663	Reduced visual acuity	149233	IL23R	ORPHA:117
HP:0007663	Reduced visual acuity	3586	IL10	ORPHA:117
HP:0007663	Reduced visual acuity	4210	MEFV	ORPHA:117
HP:0007663	Reduced visual acuity	1230	CCR1	ORPHA:117
HP:0007663	Reduced visual acuity	355	FAS	ORPHA:117
HP:0007663	Reduced visual acuity	3592	IL12A	ORPHA:117
HP:0007663	Reduced visual acuity	101928376	IL12A-AS1	ORPHA:117
HP:0007663	Reduced visual acuity	3106	HLA-B	ORPHA:117
HP:0007663	Reduced visual acuity	7099	TLR4	ORPHA:117
HP:0007663	Reduced visual acuity	3459	IFNGR1	ORPHA:117
HP:0007663	Reduced visual acuity	720	C4A	ORPHA:117
HP:0007663	Reduced visual acuity	337867	UBAC2	ORPHA:117
HP:0007663	Reduced visual acuity	51752	ERAP1	ORPHA:117
HP:0007663	Reduced visual acuity	8302	KLRC4	ORPHA:117
HP:0007663	Reduced visual acuity	7291	TWIST1	ORPHA:794
HP:0007663	Reduced visual acuity	2263	FGFR2	ORPHA:794
HP:0007663	Reduced visual acuity	2263	FGFR2	ORPHA:93260
HP:0007663	Reduced visual acuity	2263	FGFR2	ORPHA:207
HP:0007663	Reduced visual acuity	2261	FGFR3	ORPHA:794
HP:0007663	Reduced visual acuity	2261	FGFR3	OMIM:602849
HP:0007663	Reduced visual acuity	6095	RORA	OMIM:618060
HP:0007663	Reduced visual acuity	1409	CRYAA	OMIM:604219
HP:0007663	Reduced visual acuity	261734	NPHP4	OMIM:606996
HP:0007663	Reduced visual acuity	875	CBS	ORPHA:394
HP:0007663	Reduced visual acuity	23394	ADNP	ORPHA:404448
HP:0007663	Reduced visual acuity	9759	HDAC4	OMIM:619797
HP:0007663	Reduced visual acuity	8473	OGT	OMIM:300997
HP:0007663	Reduced visual acuity	54507	ADAMTSL4	ORPHA:1885
HP:0007663	Reduced visual acuity	55605	KIF21A	ORPHA:45358
HP:0007663	Reduced visual acuity	347733	TUBB2B	ORPHA:45358
HP:0007663	Reduced visual acuity	7846	TUBA1A	ORPHA:45358
HP:0007663	Reduced visual acuity	401	PHOX2A	ORPHA:45358
HP:0007663	Reduced visual acuity	401	PHOX2A	OMIM:602078
HP:0007663	Reduced visual acuity	10381	TUBB3	ORPHA:45358
HP:0007663	Reduced visual acuity	10381	TUBB3	OMIM:600638
HP:0007663	Reduced visual acuity	84570	COL25A1	ORPHA:45358
HP:0007663	Reduced visual acuity	6334	SCN8A	OMIM:614306
HP:0007663	Reduced visual acuity	22800	RRAS2	OMIM:618624
HP:0007663	Reduced visual acuity	3008	H1-4	OMIM:617537
HP:0007663	Reduced visual acuity	10992	SF3B2	OMIM:164210
HP:0007663	Reduced visual acuity	118987	PDZD8	OMIM:620021
HP:0007663	Reduced visual acuity	27125	AFF4	ORPHA:444077
HP:0007663	Reduced visual acuity	4784	NFIX	ORPHA:447980
HP:0007663	Reduced visual acuity	80232	WDR26	ORPHA:513456
HP:0007663	Reduced visual acuity	80232	WDR26	OMIM:617616
HP:0007663	Reduced visual acuity	9578	CDC42BPB	OMIM:619841
HP:0007663	Reduced visual acuity	26610	ELP4	OMIM:617141
HP:0007663	Reduced visual acuity	51506	UFC1	OMIM:618076
HP:0007663	Reduced visual acuity	10730	YME1L1	OMIM:617302
HP:0007663	Reduced visual acuity	9968	MED12	ORPHA:2728
HP:0007663	Reduced visual acuity	3781	KCNN2	OMIM:619724
HP:0007663	Reduced visual acuity	23431	AP4E1	OMIM:613744
HP:0007663	Reduced visual acuity	23431	AP4E1	ORPHA:280763
HP:0007663	Reduced visual acuity	1185	CLCN6	OMIM:619173
HP:0007663	Reduced visual acuity	57589	RIC1	OMIM:618761
HP:0007663	Reduced visual acuity	92255	LMBRD2	OMIM:619694
HP:0007663	Reduced visual acuity	10352	WARS2	OMIM:617710
HP:0007663	Reduced visual acuity	10352	WARS2	ORPHA:572798
HP:0007663	Reduced visual acuity	2058	EPRS1	OMIM:617951
HP:0007663	Reduced visual acuity	81857	MED25	ORPHA:464738
HP:0007663	Reduced visual acuity	708	C1QBP	OMIM:617713
HP:0007663	Reduced visual acuity	2077	ERF	ORPHA:207
HP:0007663	Reduced visual acuity	646960	PRSS56	OMIM:613517
HP:0007663	Reduced visual acuity	128989	TANGO2	ORPHA:480864
HP:0007663	Reduced visual acuity	9241	NOG	OMIM:186500
HP:0007663	Reduced visual acuity	1420	CRYGC	OMIM:604307
HP:0007663	Reduced visual acuity	6899	TBX1	OMIM:188400
HP:0007663	Reduced visual acuity	1301	COL11A1	ORPHA:560
HP:0007663	Reduced visual acuity	164	AP1G1	OMIM:619467
HP:0007663	Reduced visual acuity	54681	P4HTM	OMIM:618493
HP:0007663	Reduced visual acuity	57178	ZMIZ1	OMIM:618659
HP:0007663	Reduced visual acuity	57167	SALL4	ORPHA:233
HP:0007663	Reduced visual acuity	9935	MAFB	ORPHA:233
HP:0007663	Reduced visual acuity	1123	CHN1	ORPHA:233
HP:0007663	Reduced visual acuity	1123	CHN1	OMIM:604356
HP:0007663	Reduced visual acuity	84265	POLR3GL	OMIM:619234
HP:0007663	Reduced visual acuity	3982	LIM2	OMIM:615277
HP:0007663	Reduced visual acuity	10367	MICU1	OMIM:615673
HP:0007663	Reduced visual acuity	9681	DEPDC5	OMIM:620504
HP:0007663	Reduced visual acuity	8364	H4C3	OMIM:619758
HP:0007663	Reduced visual acuity	8085	KMT2D	OMIM:620186
HP:0007663	Reduced visual acuity	1859	DYRK1A	ORPHA:464311
HP:0007663	Reduced visual acuity	23556	PIGN	ORPHA:280633
HP:0007663	Reduced visual acuity	23556	PIGN	OMIM:614080
HP:0007663	Reduced visual acuity	55617	TASP1	OMIM:618950
HP:0007663	Reduced visual acuity	7204	TRIO	ORPHA:476126
HP:0007663	Reduced visual acuity	284217	LAMA1	OMIM:615960
HP:0007663	Reduced visual acuity	284217	LAMA1	ORPHA:370022
HP:0007663	Reduced visual acuity	2006	ELN	OMIM:194050
HP:0007663	Reduced visual acuity	51085	MLXIPL	OMIM:194050
HP:0007663	Reduced visual acuity	668	FOXL2	ORPHA:572333
HP:0007663	Reduced visual acuity	51322	WAC	ORPHA:284169
HP:0007663	Reduced visual acuity	10717	AP4B1	ORPHA:280763
HP:0007663	Reduced visual acuity	9179	AP4M1	ORPHA:280763
HP:0007663	Reduced visual acuity	11154	AP4S1	ORPHA:280763
HP:0007663	Reduced visual acuity	5308	PITX2	OMIM:180550
HP:0007663	Reduced visual acuity	7030	TFE3	OMIM:301066
HP:0007663	Reduced visual acuity	55084	SOBP	OMIM:613671
HP:0007663	Reduced visual acuity	57479	PRR12	OMIM:619539
HP:0007663	Reduced visual acuity	7994	KAT6A	OMIM:616268
HP:0007663	Reduced visual acuity	2316	FLNA	ORPHA:1826
HP:0007663	Reduced visual acuity	6885	MAP3K7	ORPHA:1826
HP:0007663	Reduced visual acuity	9469	CHST3	OMIM:245600
HP:0007663	Reduced visual acuity	26229	B3GAT3	OMIM:245600
HP:0007663	Reduced visual acuity	1804	DPP6	OMIM:616311
HP:0007663	Reduced visual acuity	7543	ZFX	OMIM:301118
HP:0007663	Reduced visual acuity	9181	ARHGEF2	OMIM:617523
HP:0007663	Reduced visual acuity	1297	COL9A1	ORPHA:250984
HP:0007663	Reduced visual acuity	1298	COL9A2	ORPHA:250984
HP:0007663	Reduced visual acuity	1299	COL9A3	ORPHA:250984
HP:0007663	Reduced visual acuity	90952	ESAM	OMIM:620371
HP:0007663	Reduced visual acuity	673	BRAF	ORPHA:54595
HP:0007663	Reduced visual acuity	343035	RD3	ORPHA:65
HP:0007663	Reduced visual acuity	85015	USP45	ORPHA:65
HP:0007663	Reduced visual acuity	9657	IQCB1	ORPHA:65
HP:0007663	Reduced visual acuity	392255	GDF6	ORPHA:65
HP:0007663	Reduced visual acuity	4166	CHST6	ORPHA:98969
HP:0007663	Reduced visual acuity	28962	OSTM1	OMIM:259720
HP:0007663	Reduced visual acuity	4810	NHS	OMIM:302200
HP:0007663	Reduced visual acuity	10195	ALG3	OMIM:601110
HP:0007663	Reduced visual acuity	114902	C1QTNF5	ORPHA:67042
HP:0007663	Reduced visual acuity	6809	STX3	OMIM:619446
HP:0007663	Reduced visual acuity	10749	KIF1C	ORPHA:397946
HP:0007663	Reduced visual acuity	10749	KIF1C	OMIM:611302
HP:0007663	Reduced visual acuity	85465	SELENOI	ORPHA:506353
HP:0007663	Reduced visual acuity	85465	SELENOI	OMIM:618768
HP:0007663	Reduced visual acuity	1497	CTNS	OMIM:219800
HP:0007663	Reduced visual acuity	778	CACNA1F	OMIM:300476
HP:0007663	Reduced visual acuity	778	CACNA1F	ORPHA:215
HP:0007663	Reduced visual acuity	778	CACNA1F	ORPHA:178333
HP:0007663	Reduced visual acuity	778	CACNA1F	OMIM:300071
HP:0007663	Reduced visual acuity	26235	FBXL4	OMIM:615471
HP:0007663	Reduced visual acuity	4099	MAG	OMIM:616680
HP:0007663	Reduced visual acuity	8294	H4C9	OMIM:619951
HP:0007663	Reduced visual acuity	51102	MECR	ORPHA:508093
HP:0007663	Reduced visual acuity	51102	MECR	OMIM:620629
HP:0007663	Reduced visual acuity	51102	MECR	OMIM:617282
HP:0007663	Reduced visual acuity	5949	RBP3	OMIM:615233
HP:0007663	Reduced visual acuity	5949	RBP3	ORPHA:791
HP:0007663	Reduced visual acuity	6775	STAT4	ORPHA:85410
HP:0007663	Reduced visual acuity	3560	IL2RB	ORPHA:85410
HP:0007663	Reduced visual acuity	79722	ANKRD55	ORPHA:85410
HP:0007663	Reduced visual acuity	26191	PTPN22	ORPHA:85410
HP:0007663	Reduced visual acuity	919	CD247	ORPHA:85410
HP:0007663	Reduced visual acuity	3559	IL2RA	ORPHA:85410
HP:0007663	Reduced visual acuity	5771	PTPN2	ORPHA:85410
HP:0007663	Reduced visual acuity	1763	DNA2	OMIM:620819
HP:0007663	Reduced visual acuity	583	BBS2	OMIM:616562
HP:0007663	Reduced visual acuity	583	BBS2	ORPHA:110
HP:0007663	Reduced visual acuity	583	BBS2	ORPHA:791
HP:0007663	Reduced visual acuity	55823	VPS11	OMIM:616683
HP:0007663	Reduced visual acuity	7299	TYR	OMIM:203100
HP:0007663	Reduced visual acuity	8842	PROM1	ORPHA:827
HP:0007663	Reduced visual acuity	8842	PROM1	OMIM:612657
HP:0007663	Reduced visual acuity	8842	PROM1	OMIM:603786
HP:0007663	Reduced visual acuity	8842	PROM1	ORPHA:791
HP:0007663	Reduced visual acuity	8842	PROM1	OMIM:608051
HP:0007663	Reduced visual acuity	5961	PRPH2	ORPHA:827
HP:0007663	Reduced visual acuity	5961	PRPH2	ORPHA:791
HP:0007663	Reduced visual acuity	5961	PRPH2	OMIM:169150
HP:0007663	Reduced visual acuity	5961	PRPH2	OMIM:608161
HP:0007663	Reduced visual acuity	5961	PRPH2	ORPHA:75377
HP:0007663	Reduced visual acuity	6785	ELOVL4	ORPHA:827
HP:0007663	Reduced visual acuity	6785	ELOVL4	OMIM:600110
HP:0007663	Reduced visual acuity	24	ABCA4	ORPHA:827
HP:0007663	Reduced visual acuity	24	ABCA4	OMIM:601718
HP:0007663	Reduced visual acuity	24	ABCA4	ORPHA:791
HP:0007663	Reduced visual acuity	54714	CNGB3	ORPHA:827
HP:0007663	Reduced visual acuity	54714	CNGB3	ORPHA:49382
HP:0007663	Reduced visual acuity	6010	RHO	OMIM:613731
HP:0007663	Reduced visual acuity	6010	RHO	ORPHA:215
HP:0007663	Reduced visual acuity	6010	RHO	ORPHA:791
HP:0007663	Reduced visual acuity	123263	MTFMT	OMIM:614947
HP:0007663	Reduced visual acuity	80207	OPA3	OMIM:165300
HP:0007663	Reduced visual acuity	80207	OPA3	OMIM:258501
HP:0007663	Reduced visual acuity	80207	OPA3	ORPHA:67036
HP:0007663	Reduced visual acuity	7045	TGFBI	ORPHA:98962
HP:0007663	Reduced visual acuity	7045	TGFBI	ORPHA:98963
HP:0007663	Reduced visual acuity	7045	TGFBI	OMIM:608470
HP:0007663	Reduced visual acuity	7045	TGFBI	OMIM:608471
HP:0007663	Reduced visual acuity	7045	TGFBI	OMIM:121820
HP:0007663	Reduced visual acuity	7045	TGFBI	OMIM:607541
HP:0007663	Reduced visual acuity	49855	SCAPER	OMIM:618195
HP:0007663	Reduced visual acuity	49855	SCAPER	ORPHA:110
HP:0007663	Reduced visual acuity	49855	SCAPER	ORPHA:791
HP:0007663	Reduced visual acuity	146167	SLC38A8	OMIM:609218
HP:0007663	Reduced visual acuity	83959	SLC4A11	ORPHA:293603
HP:0007663	Reduced visual acuity	83959	SLC4A11	OMIM:217400
HP:0007663	Reduced visual acuity	83959	SLC4A11	ORPHA:98974
HP:0007663	Reduced visual acuity	8566	PDXK	OMIM:618511
HP:0007663	Reduced visual acuity	1638	DCT	OMIM:619165
HP:0007663	Reduced visual acuity	755	CFAP410	OMIM:617547
HP:0007663	Reduced visual acuity	24148	PRPF6	OMIM:613983
HP:0007663	Reduced visual acuity	24148	PRPF6	ORPHA:791
HP:0007663	Reduced visual acuity	92840	REEP6	OMIM:617304
HP:0007663	Reduced visual acuity	92840	REEP6	ORPHA:791
HP:0007663	Reduced visual acuity	27229	TUBGCP4	OMIM:616335
HP:0007663	Reduced visual acuity	79947	DHDDS	OMIM:613861
HP:0007663	Reduced visual acuity	79947	DHDDS	ORPHA:791
HP:0007663	Reduced visual acuity	9128	PRPF4	OMIM:615922
HP:0007663	Reduced visual acuity	9128	PRPF4	ORPHA:791
HP:0007663	Reduced visual acuity	84197	POMK	OMIM:615249
HP:0007663	Reduced visual acuity	169522	KCNV2	OMIM:610356
HP:0007663	Reduced visual acuity	5080	PAX6	OMIM:165550
HP:0007663	Reduced visual acuity	5080	PAX6	ORPHA:2334
HP:0007663	Reduced visual acuity	5080	PAX6	ORPHA:250923
HP:0007663	Reduced visual acuity	5080	PAX6	OMIM:120200
HP:0007663	Reduced visual acuity	5080	PAX6	OMIM:604229
HP:0007663	Reduced visual acuity	57545	CC2D2A	OMIM:619845
HP:0007663	Reduced visual acuity	57545	CC2D2A	ORPHA:791
HP:0007663	Reduced visual acuity	93589	CACNA2D4	OMIM:610478
HP:0007663	Reduced visual acuity	93589	CACNA2D4	ORPHA:215
HP:0007663	Reduced visual acuity	4070	TACSTD2	ORPHA:98957
HP:0007663	Reduced visual acuity	4070	TACSTD2	OMIM:204870
HP:0007663	Reduced visual acuity	63915	BLOC1S5	OMIM:619172
HP:0007663	Reduced visual acuity	410	ARSA	ORPHA:309271
HP:0007663	Reduced visual acuity	410	ARSA	ORPHA:309263
HP:0007663	Reduced visual acuity	410	ARSA	ORPHA:309256
HP:0007663	Reduced visual acuity	5660	PSAP	ORPHA:309271
HP:0007663	Reduced visual acuity	5660	PSAP	ORPHA:309263
HP:0007663	Reduced visual acuity	5660	PSAP	ORPHA:309256
HP:0007663	Reduced visual acuity	6452	SH3BP2	OMIM:118400
HP:0007663	Reduced visual acuity	1738	DLD	ORPHA:2394
HP:0007663	Reduced visual acuity	7439	BEST1	OMIM:613194
HP:0007663	Reduced visual acuity	7439	BEST1	OMIM:611809
HP:0007663	Reduced visual acuity	7439	BEST1	ORPHA:791
HP:0007663	Reduced visual acuity	7439	BEST1	OMIM:153700
HP:0007663	Reduced visual acuity	7345	UCHL1	OMIM:615491
HP:0007663	Reduced visual acuity	23370	ARHGEF18	OMIM:617433
HP:0007663	Reduced visual acuity	23370	ARHGEF18	ORPHA:791
HP:0007663	Reduced visual acuity	215	ABCD1	ORPHA:139396
HP:0007663	Reduced visual acuity	9364	RAB28	OMIM:615374
HP:0007663	Reduced visual acuity	283652	SLC24A5	OMIM:113750
HP:0007663	Reduced visual acuity	283652	SLC24A5	ORPHA:370097
HP:0007663	Reduced visual acuity	79797	ZNF408	OMIM:616469
HP:0007663	Reduced visual acuity	79797	ZNF408	OMIM:616468
HP:0007663	Reduced visual acuity	79797	ZNF408	ORPHA:791
HP:0007663	Reduced visual acuity	79797	ZNF408	ORPHA:891
HP:0007663	Reduced visual acuity	4901	NRL	OMIM:613750
HP:0007663	Reduced visual acuity	4901	NRL	ORPHA:791
HP:0007663	Reduced visual acuity	64834	ELOVL1	OMIM:618527
HP:0007663	Reduced visual acuity	54543	TOMM7	OMIM:620601
HP:0007663	Reduced visual acuity	1259	CNGA1	OMIM:613756
HP:0007663	Reduced visual acuity	1259	CNGA1	ORPHA:791
HP:0007663	Reduced visual acuity	7123	CLEC3B	OMIM:619977
HP:0007663	Reduced visual acuity	84100	ARL6	OMIM:209900
HP:0007663	Reduced visual acuity	84100	ARL6	ORPHA:110
HP:0007663	Reduced visual acuity	84100	ARL6	ORPHA:791
HP:0007663	Reduced visual acuity	79140	CCDC28B	OMIM:209900
HP:0007663	Reduced visual acuity	582	BBS1	OMIM:209900
HP:0007663	Reduced visual acuity	582	BBS1	ORPHA:110
HP:0007663	Reduced visual acuity	582	BBS1	ORPHA:791
HP:0007663	Reduced visual acuity	54675	CRLS1	OMIM:620167
HP:0007663	Reduced visual acuity	8546	AP3B1	OMIM:608233
HP:0007663	Reduced visual acuity	3614	IMPDH1	OMIM:180105
HP:0007663	Reduced visual acuity	3614	IMPDH1	ORPHA:791
HP:0007663	Reduced visual acuity	3614	IMPDH1	OMIM:613837
HP:0007663	Reduced visual acuity	90167	FRMD7	OMIM:310700
HP:0007663	Reduced visual acuity	157680	VPS13B	OMIM:216550
HP:0007663	Reduced visual acuity	1130	LYST	ORPHA:167
HP:0007663	Reduced visual acuity	1130	LYST	OMIM:214500
HP:0007663	Reduced visual acuity	1678	TIMM8A	OMIM:304700
HP:0007663	Reduced visual acuity	9997	SCO2	OMIM:608908
HP:0007663	Reduced visual acuity	55714	TENM3	OMIM:615145
HP:0007663	Reduced visual acuity	5833	PCYT2	OMIM:618770
HP:0007663	Reduced visual acuity	7466	WFS1	OMIM:614296
HP:0007663	Reduced visual acuity	246243	RNASEH1	OMIM:616479
HP:0007663	Reduced visual acuity	5950	RBP4	OMIM:615147
HP:0007663	Reduced visual acuity	1201	CLN3	OMIM:204200
HP:0007663	Reduced visual acuity	2301	FOXE3	OMIM:610256
HP:0007663	Reduced visual acuity	7855	FZD5	OMIM:620731
HP:0007663	Reduced visual acuity	23268	DNMBP	OMIM:618415
HP:0007663	Reduced visual acuity	2201	FBN2	OMIM:616118
HP:0007663	Reduced visual acuity	2395	FXN	ORPHA:95
HP:0007663	Reduced visual acuity	2395	FXN	OMIM:229300
HP:0007663	Reduced visual acuity	2200	FBN1	OMIM:616914
HP:0007663	Reduced visual acuity	6103	RPGR	OMIM:304020
HP:0007663	Reduced visual acuity	6103	RPGR	ORPHA:49382
HP:0007663	Reduced visual acuity	6103	RPGR	ORPHA:791
HP:0007663	Reduced visual acuity	6103	RPGR	OMIM:300834
HP:0007663	Reduced visual acuity	6103	RPGR	OMIM:300029
HP:0007663	Reduced visual acuity	11081	KERA	OMIM:217300
HP:0007663	Reduced visual acuity	92482	BBIP1	ORPHA:110
HP:0007663	Reduced visual acuity	80184	CEP290	ORPHA:110
HP:0007663	Reduced visual acuity	80184	CEP290	OMIM:610188
HP:0007663	Reduced visual acuity	80184	CEP290	OMIM:610189
HP:0007663	Reduced visual acuity	11020	IFT27	ORPHA:110
HP:0007663	Reduced visual acuity	4867	NPHP1	ORPHA:110
HP:0007663	Reduced visual acuity	51057	WDPCP	ORPHA:110
HP:0007663	Reduced visual acuity	132320	SCLT1	ORPHA:110
HP:0007663	Reduced visual acuity	27241	BBS9	ORPHA:110
HP:0007663	Reduced visual acuity	84984	CEP19	ORPHA:110
HP:0007663	Reduced visual acuity	22954	TRIM32	ORPHA:110
HP:0007663	Reduced visual acuity	54903	MKS1	ORPHA:110
HP:0007663	Reduced visual acuity	79738	BBS10	ORPHA:110
HP:0007663	Reduced visual acuity	123016	TTC8	ORPHA:110
HP:0007663	Reduced visual acuity	123016	TTC8	ORPHA:791
HP:0007663	Reduced visual acuity	123016	TTC8	OMIM:613464
HP:0007663	Reduced visual acuity	26160	IFT172	ORPHA:110
HP:0007663	Reduced visual acuity	26160	IFT172	ORPHA:791
HP:0007663	Reduced visual acuity	585	BBS4	ORPHA:110
HP:0007663	Reduced visual acuity	8195	MKKS	ORPHA:110
HP:0007663	Reduced visual acuity	54585	LZTFL1	ORPHA:110
HP:0007663	Reduced visual acuity	55212	BBS7	ORPHA:110
HP:0007663	Reduced visual acuity	166379	BBS12	ORPHA:110
HP:0007663	Reduced visual acuity	10806	SDCCAG8	ORPHA:110
HP:0007663	Reduced visual acuity	10806	SDCCAG8	OMIM:615993
HP:0007663	Reduced visual acuity	157657	CFAP418	ORPHA:110
HP:0007663	Reduced visual acuity	157657	CFAP418	OMIM:614500
HP:0007663	Reduced visual acuity	157657	CFAP418	ORPHA:791
HP:0007663	Reduced visual acuity	129880	BBS5	ORPHA:110
HP:0007663	Reduced visual acuity	129880	BBS5	OMIM:615983
HP:0007663	Reduced visual acuity	80173	IFT74	ORPHA:110
HP:0007663	Reduced visual acuity	7025	NR2F1	ORPHA:401777
HP:0007663	Reduced visual acuity	7025	NR2F1	OMIM:615722
HP:0007663	Reduced visual acuity	5146	PDE6C	OMIM:613093
HP:0007663	Reduced visual acuity	5146	PDE6C	ORPHA:49382
HP:0007663	Reduced visual acuity	83394	PITPNM3	OMIM:600977
HP:0007663	Reduced visual acuity	1186	CLCN7	OMIM:618541
HP:0007663	Reduced visual acuity	4117	MAK	OMIM:614181
HP:0007663	Reduced visual acuity	4117	MAK	ORPHA:791
HP:0007663	Reduced visual acuity	91574	MTRFR	OMIM:615035
HP:0007663	Reduced visual acuity	91574	MTRFR	ORPHA:320375
HP:0007663	Reduced visual acuity	5956	OPN1LW	OMIM:303700
HP:0007663	Reduced visual acuity	2652	OPN1MW	OMIM:303700
HP:0007663	Reduced visual acuity	3769	KCNJ13	OMIM:614186
HP:0007663	Reduced visual acuity	5149	PDE6H	OMIM:610024
HP:0007663	Reduced visual acuity	5149	PDE6H	ORPHA:49382
HP:0007663	Reduced visual acuity	1282	COL4A1	OMIM:175780
HP:0007663	Reduced visual acuity	4952	OCRL	OMIM:309000
HP:0007663	Reduced visual acuity	4976	OPA1	OMIM:165500
HP:0007663	Reduced visual acuity	4976	OPA1	OMIM:125250
HP:0007663	Reduced visual acuity	23503	ZFYVE26	OMIM:270700
HP:0007663	Reduced visual acuity	6101	RP1	OMIM:180100
HP:0007663	Reduced visual acuity	6101	RP1	ORPHA:791
HP:0007663	Reduced visual acuity	402	ARL2	OMIM:619082
HP:0007663	Reduced visual acuity	89781	HPS4	OMIM:614073
HP:0007663	Reduced visual acuity	4041	LRP5	OMIM:601813
HP:0007663	Reduced visual acuity	4041	LRP5	OMIM:133780
HP:0007663	Reduced visual acuity	4041	LRP5	ORPHA:90050
HP:0007663	Reduced visual acuity	4041	LRP5	ORPHA:891
HP:0007663	Reduced visual acuity	30813	VSX1	OMIM:614195
HP:0007663	Reduced visual acuity	30813	VSX1	ORPHA:98973
HP:0007663	Reduced visual acuity	11234	HPS5	OMIM:614074
HP:0007663	Reduced visual acuity	368	ABCC6	OMIM:177850
HP:0007663	Reduced visual acuity	368	ABCC6	OMIM:264800
HP:0007663	Reduced visual acuity	2934	GSN	ORPHA:85448
HP:0007663	Reduced visual acuity	3098	HK1	OMIM:617460
HP:0007663	Reduced visual acuity	84343	HPS3	OMIM:614072
HP:0007663	Reduced visual acuity	388552	BLOC1S3	OMIM:614077
HP:0007663	Reduced visual acuity	3913	LAMB2	OMIM:614199
HP:0007663	Reduced visual acuity	79803	HPS6	OMIM:614075
HP:0007663	Reduced visual acuity	84062	DTNBP1	OMIM:614076
HP:0007663	Reduced visual acuity	3859	KRT12	OMIM:122100
HP:0007663	Reduced visual acuity	6121	RPE65	OMIM:204100
HP:0007663	Reduced visual acuity	6121	RPE65	ORPHA:791
HP:0007663	Reduced visual acuity	6121	RPE65	ORPHA:364055
HP:0007663	Reduced visual acuity	56623	INPP5E	OMIM:610156
HP:0007663	Reduced visual acuity	57709	SLC7A14	OMIM:615725
HP:0007663	Reduced visual acuity	57709	SLC7A14	ORPHA:791
HP:0007663	Reduced visual acuity	11261	CHP1	OMIM:618438
HP:0007663	Reduced visual acuity	6017	RLBP1	OMIM:607476
HP:0007663	Reduced visual acuity	6017	RLBP1	ORPHA:791
HP:0007663	Reduced visual acuity	5191	PEX7	OMIM:614879
HP:0007663	Reduced visual acuity	6742	SSBP1	OMIM:165510
HP:0007663	Reduced visual acuity	4308	TRPM1	ORPHA:215
HP:0007663	Reduced visual acuity	4308	TRPM1	OMIM:613216
HP:0007663	Reduced visual acuity	57010	CABP4	ORPHA:215
HP:0007663	Reduced visual acuity	345193	LRIT3	ORPHA:215
HP:0007663	Reduced visual acuity	345193	LRIT3	OMIM:615058
HP:0007663	Reduced visual acuity	2916	GRM6	ORPHA:215
HP:0007663	Reduced visual acuity	5158	PDE6B	ORPHA:215
HP:0007663	Reduced visual acuity	5158	PDE6B	ORPHA:791
HP:0007663	Reduced visual acuity	5158	PDE6B	OMIM:163500
HP:0007663	Reduced visual acuity	440435	GPR179	ORPHA:215
HP:0007663	Reduced visual acuity	440435	GPR179	OMIM:614565
HP:0007663	Reduced visual acuity	6011	GRK1	ORPHA:215
HP:0007663	Reduced visual acuity	9187	SLC24A1	ORPHA:215
HP:0007663	Reduced visual acuity	6295	SAG	ORPHA:215
HP:0007663	Reduced visual acuity	6295	SAG	ORPHA:791
HP:0007663	Reduced visual acuity	6295	SAG	OMIM:620228
HP:0007663	Reduced visual acuity	2784	GNB3	ORPHA:215
HP:0007663	Reduced visual acuity	2779	GNAT1	ORPHA:215
HP:0007663	Reduced visual acuity	60506	NYX	ORPHA:215
HP:0007663	Reduced visual acuity	7837	PXDN	OMIM:269400
HP:0007663	Reduced visual acuity	22926	ATF6	ORPHA:49382
HP:0007663	Reduced visual acuity	22926	ATF6	OMIM:616517
HP:0007663	Reduced visual acuity	2780	GNAT2	ORPHA:49382
HP:0007663	Reduced visual acuity	1261	CNGA3	ORPHA:49382
HP:0007663	Reduced visual acuity	1261	CNGA3	OMIM:216900
HP:0007663	Reduced visual acuity	83723	TLCD3B	OMIM:619531
HP:0007663	Reduced visual acuity	326	AIRE	OMIM:240300
HP:0007663	Reduced visual acuity	64218	SEMA4A	OMIM:610282
HP:0007663	Reduced visual acuity	64218	SEMA4A	ORPHA:791
HP:0007663	Reduced visual acuity	7867	MAPKAPK3	OMIM:617111
HP:0007663	Reduced visual acuity	23554	TSPAN12	OMIM:613310
HP:0007663	Reduced visual acuity	23554	TSPAN12	ORPHA:891
HP:0007663	Reduced visual acuity	282809	POC1B	OMIM:615973
HP:0007663	Reduced visual acuity	10002	NR2E3	OMIM:611131
HP:0007663	Reduced visual acuity	10002	NR2E3	ORPHA:791
HP:0007663	Reduced visual acuity	11152	WDR45	OMIM:615179
HP:0007663	Reduced visual acuity	83938	LRMDA	OMIM:615179
HP:0007663	Reduced visual acuity	6389	SDHA	ORPHA:3208
HP:0007663	Reduced visual acuity	6390	SDHB	ORPHA:3208
HP:0007663	Reduced visual acuity	6392	SDHD	ORPHA:3208
HP:0007663	Reduced visual acuity	644096	SDHAF1	ORPHA:3208
HP:0007663	Reduced visual acuity	26022	TMEM98	OMIM:615972
HP:0007663	Reduced visual acuity	344658	SAMD7	OMIM:620762
HP:0007663	Reduced visual acuity	64802	NMNAT1	OMIM:608553
HP:0007663	Reduced visual acuity	1406	CRX	OMIM:120970
HP:0007663	Reduced visual acuity	1406	CRX	ORPHA:791
HP:0007663	Reduced visual acuity	6314	ATXN7	ORPHA:94147
HP:0007663	Reduced visual acuity	285440	CYP4V2	OMIM:210370
HP:0007663	Reduced visual acuity	50939	IMPG2	OMIM:616152
HP:0007663	Reduced visual acuity	50939	IMPG2	ORPHA:791
HP:0007663	Reduced visual acuity	50939	IMPG2	OMIM:613581
HP:0007663	Reduced visual acuity	23093	TTLL5	OMIM:615860
HP:0007663	Reduced visual acuity	55624	POMGNT1	OMIM:617123
HP:0007663	Reduced visual acuity	55624	POMGNT1	ORPHA:791
HP:0007663	Reduced visual acuity	3000	GUCY2D	OMIM:204000
HP:0007663	Reduced visual acuity	3000	GUCY2D	OMIM:601777
HP:0007663	Reduced visual acuity	3000	GUCY2D	ORPHA:75377
HP:0007663	Reduced visual acuity	1545	CYP1B1	ORPHA:98976
HP:0007663	Reduced visual acuity	4053	LTBP2	ORPHA:98976
HP:0007663	Reduced visual acuity	4653	MYOC	ORPHA:98976
HP:0007663	Reduced visual acuity	7010	TEK	ORPHA:98976
HP:0007663	Reduced visual acuity	113457	TUBA3D	OMIM:617928
HP:0007663	Reduced visual acuity	8905	AP1S2	OMIM:304340
HP:0007663	Reduced visual acuity	4157	MC1R	ORPHA:79432
HP:0007663	Reduced visual acuity	4157	MC1R	OMIM:203200
HP:0007663	Reduced visual acuity	4948	OCA2	ORPHA:79432
HP:0007663	Reduced visual acuity	4948	OCA2	OMIM:203200
HP:0007663	Reduced visual acuity	6935	ZEB1	ORPHA:98973
HP:0007663	Reduced visual acuity	6935	ZEB1	ORPHA:98974
HP:0007663	Reduced visual acuity	6935	ZEB1	OMIM:609141
HP:0007663	Reduced visual acuity	6935	ZEB1	OMIM:613270
HP:0007663	Reduced visual acuity	58495	OVOL2	ORPHA:98973
HP:0007663	Reduced visual acuity	79977	GRHL2	ORPHA:98973
HP:0007663	Reduced visual acuity	79977	GRHL2	OMIM:618031
HP:0007663	Reduced visual acuity	1296	COL8A2	ORPHA:98973
HP:0007663	Reduced visual acuity	1296	COL8A2	ORPHA:98974
HP:0007663	Reduced visual acuity	123624	AGBL1	ORPHA:98974
HP:0007663	Reduced visual acuity	6925	TCF4	ORPHA:98974
HP:0007663	Reduced visual acuity	51151	SLC45A2	ORPHA:79435
HP:0007663	Reduced visual acuity	8322	FZD4	OMIM:133780
HP:0007663	Reduced visual acuity	8322	FZD4	ORPHA:90050
HP:0007663	Reduced visual acuity	8322	FZD4	ORPHA:91495
HP:0007663	Reduced visual acuity	8322	FZD4	ORPHA:891
HP:0007663	Reduced visual acuity	7287	TULP1	OMIM:600132
HP:0007663	Reduced visual acuity	7287	TULP1	ORPHA:791
HP:0007663	Reduced visual acuity	7287	TULP1	OMIM:613843
HP:0007663	Reduced visual acuity	26121	PRPF31	OMIM:600138
HP:0007663	Reduced visual acuity	26121	PRPF31	ORPHA:791
HP:0007663	Reduced visual acuity	4693	NDP	ORPHA:90050
HP:0007663	Reduced visual acuity	4693	NDP	ORPHA:91495
HP:0007663	Reduced visual acuity	4693	NDP	ORPHA:891
HP:0007663	Reduced visual acuity	4693	NDP	OMIM:305390
HP:0007663	Reduced visual acuity	6094	ROM1	ORPHA:791
HP:0007663	Reduced visual acuity	7401	CLRN1	ORPHA:791
HP:0007663	Reduced visual acuity	7401	CLRN1	OMIM:276902
HP:0007663	Reduced visual acuity	130557	ZNF513	ORPHA:791
HP:0007663	Reduced visual acuity	92211	CDHR1	ORPHA:791
HP:0007663	Reduced visual acuity	23568	ARL2BP	ORPHA:791
HP:0007663	Reduced visual acuity	23568	ARL2BP	OMIM:615434
HP:0007663	Reduced visual acuity	54806	AHI1	ORPHA:791
HP:0007663	Reduced visual acuity	3419	IDH3A	ORPHA:791
HP:0007663	Reduced visual acuity	3419	IDH3A	OMIM:619007
HP:0007663	Reduced visual acuity	4751	NEK2	ORPHA:791
HP:0007663	Reduced visual acuity	346007	EYS	ORPHA:791
HP:0007663	Reduced visual acuity	8100	IFT88	ORPHA:791
HP:0007663	Reduced visual acuity	23020	SNRNP200	ORPHA:791
HP:0007663	Reduced visual acuity	762	CA4	ORPHA:791
HP:0007663	Reduced visual acuity	138050	HGSNAT	ORPHA:791
HP:0007663	Reduced visual acuity	138050	HGSNAT	OMIM:616544
HP:0007663	Reduced visual acuity	196	AHR	ORPHA:791
HP:0007663	Reduced visual acuity	196	AHR	OMIM:618345
HP:0007663	Reduced visual acuity	5148	PDE6G	ORPHA:791
HP:0007663	Reduced visual acuity	5148	PDE6G	OMIM:613582
HP:0007663	Reduced visual acuity	25794	FSCN2	ORPHA:791
HP:0007663	Reduced visual acuity	375298	CERKL	ORPHA:791
HP:0007663	Reduced visual acuity	3420	IDH3B	ORPHA:791
HP:0007663	Reduced visual acuity	57670	KIAA1549	ORPHA:791
HP:0007663	Reduced visual acuity	7275	TUB	ORPHA:791
HP:0007663	Reduced visual acuity	7275	TUB	OMIM:616188
HP:0007663	Reduced visual acuity	23418	CRB1	ORPHA:791
HP:0007663	Reduced visual acuity	23418	CRB1	OMIM:600105
HP:0007663	Reduced visual acuity	23418	CRB1	OMIM:613835
HP:0007663	Reduced visual acuity	10461	MERTK	ORPHA:791
HP:0007663	Reduced visual acuity	768206	PRCD	ORPHA:791
HP:0007663	Reduced visual acuity	7399	USH2A	ORPHA:791
HP:0007663	Reduced visual acuity	6100	RP9	ORPHA:791
HP:0007663	Reduced visual acuity	9227	LRAT	ORPHA:791
HP:0007663	Reduced visual acuity	9227	LRAT	ORPHA:364055
HP:0007663	Reduced visual acuity	9227	LRAT	OMIM:613341
HP:0007663	Reduced visual acuity	84140	FAM161A	ORPHA:791
HP:0007663	Reduced visual acuity	55812	SPATA7	ORPHA:791
HP:0007663	Reduced visual acuity	55812	SPATA7	ORPHA:364055
HP:0007663	Reduced visual acuity	403	ARL3	ORPHA:791
HP:0007663	Reduced visual acuity	403	ARL3	OMIM:618173
HP:0007663	Reduced visual acuity	5145	PDE6A	ORPHA:791
HP:0007663	Reduced visual acuity	10210	TOPORS	ORPHA:791
HP:0007663	Reduced visual acuity	145226	RDH12	ORPHA:791
HP:0007663	Reduced visual acuity	145226	RDH12	OMIM:612712
HP:0007663	Reduced visual acuity	8481	OFD1	ORPHA:791
HP:0007663	Reduced visual acuity	9742	IFT140	ORPHA:791
HP:0007663	Reduced visual acuity	2979	GUCA1B	ORPHA:791
HP:0007663	Reduced visual acuity	1258	CNGB1	ORPHA:791
HP:0007663	Reduced visual acuity	60509	AGBL5	ORPHA:791
HP:0007663	Reduced visual acuity	388939	PCARE	ORPHA:791
HP:0007663	Reduced visual acuity	9785	DHX38	ORPHA:791
HP:0007663	Reduced visual acuity	5995	RGR	ORPHA:791
HP:0007663	Reduced visual acuity	9129	PRPF3	ORPHA:791
HP:0007663	Reduced visual acuity	55975	KLHL7	ORPHA:791
HP:0007663	Reduced visual acuity	55975	KLHL7	OMIM:612943
HP:0007663	Reduced visual acuity	3617	IMPG1	ORPHA:791
HP:0007663	Reduced visual acuity	94137	RP1L1	ORPHA:791
HP:0007663	Reduced visual acuity	94137	RP1L1	OMIM:618826
HP:0007663	Reduced visual acuity	6102	RP2	ORPHA:791
HP:0007663	Reduced visual acuity	55857	KIZ	ORPHA:791
HP:0007663	Reduced visual acuity	55857	KIZ	OMIM:615780
HP:0007663	Reduced visual acuity	10594	PRPF8	ORPHA:791
HP:0007663	Reduced visual acuity	8787	RGS9	OMIM:608415
HP:0007663	Reduced visual acuity	50	ACO2	OMIM:616289
HP:0007663	Reduced visual acuity	406987	MIR204	OMIM:616722
HP:0007663	Reduced visual acuity	2202	EFEMP1	OMIM:611276
HP:0007663	Reduced visual acuity	406960	MIR184	OMIM:614303
HP:0007663	Reduced visual acuity	23078	VWA8	OMIM:620422
HP:0007663	Reduced visual acuity	220202	ATOH7	ORPHA:91495
HP:0007663	Reduced visual acuity	6507	SLC1A3	ORPHA:209967
HP:0007663	Reduced visual acuity	256471	MFSD8	OMIM:616170
HP:0007663	Reduced visual acuity	167691	LCA5	ORPHA:364055
HP:0007663	Reduced visual acuity	54765	TRIM44	OMIM:617142
HP:0007663	Reduced visual acuity	54765	TRIM44	ORPHA:250923
HP:0007663	Reduced visual acuity	83552	MFRP	OMIM:611040
HP:0007663	Reduced visual acuity	84816	RTN4IP1	OMIM:616732
HP:0007663	Reduced visual acuity	11190	CEP250	OMIM:618358
HP:0007663	Reduced visual acuity	91869	RFT1	OMIM:612015
HP:0007663	Reduced visual acuity	54471	MIEF1	OMIM:620550
HP:0007663	Reduced visual acuity	611	OPN1SW	ORPHA:88629
HP:0007663	Reduced visual acuity	128338	DRAM2	OMIM:616502
HP:0007663	Reduced visual acuity	267010	RNU12	OMIM:620208
HP:0007663	Reduced visual acuity	57096	RPGRIP1	OMIM:608194
HP:0007663	Reduced visual acuity	57096	RPGRIP1	OMIM:613826
HP:0007663	Reduced visual acuity	91851	CHRDL1	OMIM:309300
HP:0007663	Reduced visual acuity	2978	GUCA1A	OMIM:602093
HP:0007663	Reduced visual acuity	2978	GUCA1A	ORPHA:75377
HP:0007663	Reduced visual acuity	23746	AIPL1	OMIM:604393
HP:0007663	Reduced visual acuity	444	ASPH	OMIM:601552
HP:0007663	Reduced visual acuity	1001	CDH3	OMIM:601553
HP:0007663	Reduced visual acuity	22827	PUF60	ORPHA:508488
HP:0007663	Reduced visual acuity	4935	GPR143	OMIM:300500
HP:0007663	Reduced visual acuity	4935	GPR143	OMIM:300814
HP:0007663	Reduced visual acuity	201973	PRIMPOL	OMIM:615420
HP:0007663	Reduced visual acuity	9445	ITM2B	OMIM:616079
HP:0007663	Reduced visual acuity	6297	SALL2	OMIM:216820
HP:0007663	Reduced visual acuity	79736	TEFM	OMIM:620451
HP:0007663	Reduced visual acuity	64840	PORCN	OMIM:305600
HP:0007663	Reduced visual acuity	87178	PNPT1	ORPHA:101111
HP:0007663	Reduced visual acuity	87178	PNPT1	OMIM:608703
HP:0007663	Reduced visual acuity	57498	KIDINS220	OMIM:617296
HP:0007663	Reduced visual acuity	55213	RCBTB1	OMIM:617175
HP:0007663	Reduced visual acuity	55229	PANK4	OMIM:619593
HP:0007663	Reduced visual acuity	4043	LRPAP1	OMIM:615431
HP:0007663	Reduced visual acuity	2296	FOXC1	ORPHA:250923
HP:0007663	Reduced visual acuity	998	CDC42	ORPHA:487796
HP:0007663	Reduced visual acuity	84839	RAX2	OMIM:620102
HP:0007663	Reduced visual acuity	388531	RGS9BP	OMIM:620344
HP:0007663	Reduced visual acuity	9094	UNC119	OMIM:620342
HP:0007663	Reduced visual acuity	8936	WASF1	OMIM:618707
HP:0007663	Reduced visual acuity	1495	CTNNA1	OMIM:608970
HP:0007663	Reduced visual acuity	27349	MCAT	OMIM:620583
HP:0007663	Reduced visual acuity	10682	EBP	OMIM:300960
HP:0007663	Reduced visual acuity	64131	XYLT1	OMIM:264800
HP:0007663	Reduced visual acuity	64132	XYLT2	OMIM:264800
HP:0007663	Reduced visual acuity	283989	TSEN54	ORPHA:2524
HP:0007663	Reduced visual acuity	116461	TSEN15	ORPHA:2524
HP:0007663	Reduced visual acuity	79042	TSEN34	ORPHA:2524
HP:0007663	Reduced visual acuity	80746	TSEN2	ORPHA:2524
HP:0007663	Reduced visual acuity	51091	SEPSECS	ORPHA:2524
HP:0007663	Reduced visual acuity	80210	ARMC9	OMIM:617622
HP:0007663	Reduced visual acuity	23516	SLC39A14	OMIM:144755
HP:0007663	Reduced visual acuity	5456	POU3F4	ORPHA:1435
HP:0007663	Reduced visual acuity	4140	MARK3	OMIM:618283
HP:0007663	Reduced visual acuity	1499	CTNNB1	ORPHA:891
HP:0007663	Reduced visual acuity	112752	IFT43	OMIM:617871
HP:0007663	Reduced visual acuity	387	RHOA	OMIM:618727
HP:0007663	Reduced visual acuity	51594	NBAS	OMIM:614800
HP:0007663	Reduced visual acuity	57728	WDR19	OMIM:616307
HP:0007663	Reduced visual acuity	10383	TUBB4B	OMIM:617879
HP:0007663	Reduced visual acuity	6522	SLC4A2	OMIM:620366
HP:0007663	Reduced visual acuity	84233	TMEM126A	OMIM:612989
HP:0007663	Reduced visual acuity	57410	SCYL1	ORPHA:466794
HP:0007663	Reduced visual acuity	5076	PAX2	OMIM:120330
HP:0007663	Reduced visual acuity	224	ALDH3A2	OMIM:270200
HP:0007663	Reduced visual acuity	84277	DNAJC30	OMIM:619382
HP:0007663	Reduced visual acuity	23155	CLCC1	OMIM:609913
HP:0007663	Reduced visual acuity	9699	RIMS2	OMIM:618970
HP:0007663	Reduced visual acuity	23102	TBC1D2B	ORPHA:397973
HP:0007663	Reduced visual acuity	3832	KIF11	OMIM:152950
HP:0007663	Reduced visual acuity	4327	MMP19	OMIM:611543
HP:0007663	Reduced visual acuity	10939	AFG3L2	OMIM:618977
HP:0007663	Reduced visual acuity	3708	ITPR1	OMIM:206700
HP:0007663	Reduced visual acuity	1414	CRYBB1	OMIM:611544
HP:0007663	Reduced visual acuity	4771	NF2	ORPHA:637
HP:0007663	Reduced visual acuity	5130	PCYT1A	OMIM:608940
HP:0007663	Reduced visual acuity	5297	PI4KA	OMIM:619708
HP:0007663	Reduced visual acuity	5052	PRDX1	OMIM:277400
HP:0007663	Reduced visual acuity	25974	MMACHC	OMIM:277400
HP:0007663	Reduced visual acuity	471	ATIC	ORPHA:250977
HP:0007663	Reduced visual acuity	471	ATIC	OMIM:608688
HP:0007663	Reduced visual acuity	1757	SARDH	ORPHA:3129
HP:0007663	Reduced visual acuity	286053	NSMCE2	ORPHA:436182
HP:0007663	Reduced visual acuity	7518	XRCC4	ORPHA:436182
HP:0007663	Reduced visual acuity	10059	DNM1L	ORPHA:98673
HP:0007663	Reduced visual acuity	5879	RAC1	ORPHA:500159
HP:0007663	Reduced visual acuity	5277	PIGA	OMIM:300868
HP:0007663	Reduced visual acuity	324	APC	ORPHA:99818
HP:0007663	Reduced visual acuity	55214	P3H2	OMIM:614292
HP:0007663	Reduced visual acuity	3166	HMX1	OMIM:612109
HP:0001092	Absent lacrimal punctum	2255	FGF10	OMIM:620193
HP:0001092	Absent lacrimal punctum	2255	FGF10	ORPHA:2363
HP:0001092	Absent lacrimal punctum	2255	FGF10	OMIM:180920
HP:0001092	Absent lacrimal punctum	2736	GLI2	OMIM:610829
HP:0001092	Absent lacrimal punctum	2261	FGFR3	OMIM:620192
HP:0001092	Absent lacrimal punctum	2261	FGFR3	ORPHA:2363
HP:0001092	Absent lacrimal punctum	197131	UBR1	OMIM:243800
HP:0001092	Absent lacrimal punctum	197131	UBR1	ORPHA:2315
HP:0001092	Absent lacrimal punctum	8626	TP63	ORPHA:69085
HP:0001092	Absent lacrimal punctum	8626	TP63	ORPHA:1896
HP:0001092	Absent lacrimal punctum	8626	TP63	OMIM:129400
HP:0001092	Absent lacrimal punctum	2263	FGFR2	OMIM:149730
HP:0001092	Absent lacrimal punctum	2263	FGFR2	ORPHA:2363
HP:0001093	Optic nerve dysplasia	5076	PAX2	ORPHA:1475
HP:0001093	Optic nerve dysplasia	5828	PEX2	OMIM:614866
HP:0001093	Optic nerve dysplasia	673	BRAF	OMIM:115150
HP:0001093	Optic nerve dysplasia	27151	CPAMD8	OMIM:617319
HP:0001093	Optic nerve dysplasia	57498	KIDINS220	OMIM:617296
HP:0001093	Optic nerve dysplasia	11041	B4GAT1	OMIM:615287
HP:0001093	Optic nerve dysplasia	5830	PEX5	OMIM:214110
HP:0001094	Iridocyclitis	355	FAS	ORPHA:3437
HP:0001094	Iridocyclitis	26191	PTPN22	ORPHA:3437
HP:0001094	Iridocyclitis	26191	PTPN22	ORPHA:85408
HP:0001094	Iridocyclitis	10273	STUB1	ORPHA:412057
HP:0001094	Iridocyclitis	3123	HLA-DRB1	OMIM:181000
HP:0001094	Iridocyclitis	6775	STAT4	ORPHA:85408
HP:0001094	Iridocyclitis	3560	IL2RB	ORPHA:85408
HP:0001094	Iridocyclitis	79722	ANKRD55	ORPHA:85408
HP:0001094	Iridocyclitis	919	CD247	ORPHA:85408
HP:0001094	Iridocyclitis	3559	IL2RA	ORPHA:85408
HP:0001094	Iridocyclitis	5771	PTPN2	ORPHA:85408
HP:0001094	Iridocyclitis	326	AIRE	OMIM:240300
HP:0001094	Iridocyclitis	64127	NOD2	ORPHA:90340
HP:0001095	Hypertensive retinopathy	3291	HSD11B2	ORPHA:320
HP:0001095	Hypertensive retinopathy	3291	HSD11B2	OMIM:218030
HP:0001095	Hypertensive retinopathy	7428	VHL	ORPHA:892
HP:0001095	Hypertensive retinopathy	7428	VHL	OMIM:171300
HP:0001095	Hypertensive retinopathy	7428	VHL	ORPHA:29072
HP:0001095	Hypertensive retinopathy	7428	VHL	ORPHA:276621
HP:0001095	Hypertensive retinopathy	595	CCND1	ORPHA:892
HP:0001095	Hypertensive retinopathy	55654	TMEM127	OMIM:171300
HP:0001095	Hypertensive retinopathy	55654	TMEM127	ORPHA:29072
HP:0001095	Hypertensive retinopathy	4149	MAX	OMIM:171300
HP:0001095	Hypertensive retinopathy	4149	MAX	ORPHA:29072
HP:0001095	Hypertensive retinopathy	5979	RET	OMIM:171300
HP:0001095	Hypertensive retinopathy	5979	RET	ORPHA:29072
HP:0001095	Hypertensive retinopathy	5979	RET	ORPHA:276621
HP:0001095	Hypertensive retinopathy	1743	DLST	ORPHA:29072
HP:0001095	Hypertensive retinopathy	4191	MDH2	ORPHA:29072
HP:0001095	Hypertensive retinopathy	6389	SDHA	ORPHA:29072
HP:0001095	Hypertensive retinopathy	23095	KIF1B	ORPHA:29072
HP:0001095	Hypertensive retinopathy	2271	FH	ORPHA:29072
HP:0001095	Hypertensive retinopathy	8402	SLC25A11	ORPHA:29072
HP:0001095	Hypertensive retinopathy	54949	SDHAF2	ORPHA:29072
HP:0001095	Hypertensive retinopathy	4763	NF1	ORPHA:29072
HP:0001095	Hypertensive retinopathy	6391	SDHC	ORPHA:29072
HP:0001095	Hypertensive retinopathy	6392	SDHD	ORPHA:29072
HP:0001095	Hypertensive retinopathy	6392	SDHD	ORPHA:276621
HP:0001095	Hypertensive retinopathy	6390	SDHB	ORPHA:29072
HP:0001095	Hypertensive retinopathy	6390	SDHB	ORPHA:276621
HP:0001095	Hypertensive retinopathy	1788	DNMT3A	ORPHA:276621
HP:0001095	Hypertensive retinopathy	2034	EPAS1	ORPHA:276621
HP:0001096	Keratoconjunctivitis	8626	TP63	ORPHA:1896
HP:0001096	Keratoconjunctivitis	6720	SREBF1	OMIM:158310
HP:0001096	Keratoconjunctivitis	2263	FGFR2	ORPHA:2363
HP:0001096	Keratoconjunctivitis	2261	FGFR3	ORPHA:2363
HP:0001096	Keratoconjunctivitis	2255	FGF10	ORPHA:2363
HP:0001096	Keratoconjunctivitis	3141	HLCS	ORPHA:79242
HP:0001096	Keratoconjunctivitis	7390	UROS	ORPHA:79277
HP:0001096	Keratoconjunctivitis	2623	GATA1	ORPHA:79277
HP:0001096	Keratoconjunctivitis	326	AIRE	OMIM:240300
HP:0001096	Keratoconjunctivitis	7389	UROD	ORPHA:95159
HP:0001096	Keratoconjunctivitis	6335	SCN9A	OMIM:133020
HP:0001096	Keratoconjunctivitis	10804	GJB6	ORPHA:477
HP:0001096	Keratoconjunctivitis	2706	GJB2	ORPHA:477
HP:0001096	Keratoconjunctivitis	2706	GJB2	OMIM:148210
HP:0001096	Keratoconjunctivitis	5080	PAX6	ORPHA:250923
HP:0001096	Keratoconjunctivitis	2296	FOXC1	ORPHA:250923
HP:0001096	Keratoconjunctivitis	54765	TRIM44	ORPHA:250923
HP:0001096	Keratoconjunctivitis	55699	IARS2	OMIM:616007
HP:0001096	Keratoconjunctivitis	1161	ERCC8	ORPHA:90324
HP:0001096	Keratoconjunctivitis	2074	ERCC6	ORPHA:90324
HP:0001096	Keratoconjunctivitis	1308	COL17A1	ORPHA:293381
HP:0001096	Keratoconjunctivitis	29926	GMPPA	ORPHA:869
HP:0001096	Keratoconjunctivitis	60684	TRAPPC11	ORPHA:869
HP:0001096	Keratoconjunctivitis	8086	AAAS	ORPHA:869
HP:0001096	Keratoconjunctivitis	136647	MPLKIP	OMIM:234050
HP:0001096	Keratoconjunctivitis	136647	MPLKIP	ORPHA:33364
HP:0001096	Keratoconjunctivitis	2934	GSN	ORPHA:85448
HP:0001096	Keratoconjunctivitis	22861	NLRP1	OMIM:617388
HP:0001096	Keratoconjunctivitis	4081	MAB21L1	OMIM:618479
HP:0001096	Keratoconjunctivitis	4081	MAB21L1	ORPHA:495875
HP:0001096	Keratoconjunctivitis	488	ATP2A2	ORPHA:218
HP:0001096	Keratoconjunctivitis	3930	LBR	ORPHA:779
HP:0001096	Keratoconjunctivitis	54941	RNF125	OMIM:616260
HP:0001096	Keratoconjunctivitis	404672	GTF2H5	ORPHA:33364
HP:0001096	Keratoconjunctivitis	833	CARS1	ORPHA:33364
HP:0001096	Keratoconjunctivitis	2068	ERCC2	ORPHA:33364
HP:0001096	Keratoconjunctivitis	2068	ERCC2	OMIM:601675
HP:0001096	Keratoconjunctivitis	2068	ERCC2	OMIM:278730
HP:0001096	Keratoconjunctivitis	7737	RNF113A	ORPHA:33364
HP:0001096	Keratoconjunctivitis	6897	TARS1	ORPHA:33364
HP:0001096	Keratoconjunctivitis	16	AARS1	ORPHA:33364
HP:0001096	Keratoconjunctivitis	2071	ERCC3	ORPHA:33364
HP:0001096	Keratoconjunctivitis	2961	GTF2E2	ORPHA:33364
HP:0001096	Keratoconjunctivitis	5965	RECQL	OMIM:620370
HP:0001096	Keratoconjunctivitis	4547	MTTP	ORPHA:14
HP:0001096	Keratoconjunctivitis	64127	NOD2	OMIM:617321
HP:0001096	Keratoconjunctivitis	7543	ZFX	OMIM:301118
HP:0001096	Keratoconjunctivitis	4069	LYZ	OMIM:620658
HP:0001096	Keratoconjunctivitis	2200	FBN1	OMIM:616914
HP:0001096	Keratoconjunctivitis	165	AEBP1	ORPHA:536532
HP:0001096	Keratoconjunctivitis	56244	BTNL2	ORPHA:797
HP:0001096	Keratoconjunctivitis	3123	HLA-DRB1	ORPHA:797
HP:0001096	Keratoconjunctivitis	149233	IL23R	ORPHA:117
HP:0001096	Keratoconjunctivitis	6775	STAT4	ORPHA:117
HP:0001096	Keratoconjunctivitis	3586	IL10	ORPHA:117
HP:0001096	Keratoconjunctivitis	4210	MEFV	ORPHA:117
HP:0001096	Keratoconjunctivitis	1230	CCR1	ORPHA:117
HP:0001096	Keratoconjunctivitis	355	FAS	ORPHA:117
HP:0001096	Keratoconjunctivitis	3592	IL12A	ORPHA:117
HP:0001096	Keratoconjunctivitis	101928376	IL12A-AS1	ORPHA:117
HP:0001096	Keratoconjunctivitis	3106	HLA-B	ORPHA:117
HP:0001096	Keratoconjunctivitis	7099	TLR4	ORPHA:117
HP:0001096	Keratoconjunctivitis	3459	IFNGR1	ORPHA:117
HP:0001096	Keratoconjunctivitis	720	C4A	ORPHA:117
HP:0001096	Keratoconjunctivitis	337867	UBAC2	ORPHA:117
HP:0001096	Keratoconjunctivitis	51752	ERAP1	ORPHA:117
HP:0001096	Keratoconjunctivitis	8302	KLRC4	ORPHA:117
HP:0001097	Keratoconjunctivitis sicca	6335	SCN9A	OMIM:133020
HP:0001097	Keratoconjunctivitis sicca	10804	GJB6	ORPHA:477
HP:0001097	Keratoconjunctivitis sicca	2706	GJB2	ORPHA:477
HP:0001097	Keratoconjunctivitis sicca	2706	GJB2	OMIM:148210
HP:0001097	Keratoconjunctivitis sicca	5080	PAX6	ORPHA:250923
HP:0001097	Keratoconjunctivitis sicca	2296	FOXC1	ORPHA:250923
HP:0001097	Keratoconjunctivitis sicca	54765	TRIM44	ORPHA:250923
HP:0001097	Keratoconjunctivitis sicca	55699	IARS2	OMIM:616007
HP:0001097	Keratoconjunctivitis sicca	1161	ERCC8	ORPHA:90324
HP:0001097	Keratoconjunctivitis sicca	2074	ERCC6	ORPHA:90324
HP:0001097	Keratoconjunctivitis sicca	1308	COL17A1	ORPHA:293381
HP:0001097	Keratoconjunctivitis sicca	29926	GMPPA	ORPHA:869
HP:0001097	Keratoconjunctivitis sicca	60684	TRAPPC11	ORPHA:869
HP:0001097	Keratoconjunctivitis sicca	8086	AAAS	ORPHA:869
HP:0001097	Keratoconjunctivitis sicca	136647	MPLKIP	OMIM:234050
HP:0001097	Keratoconjunctivitis sicca	136647	MPLKIP	ORPHA:33364
HP:0001097	Keratoconjunctivitis sicca	2934	GSN	ORPHA:85448
HP:0001097	Keratoconjunctivitis sicca	22861	NLRP1	OMIM:617388
HP:0001097	Keratoconjunctivitis sicca	4081	MAB21L1	OMIM:618479
HP:0001097	Keratoconjunctivitis sicca	4081	MAB21L1	ORPHA:495875
HP:0001097	Keratoconjunctivitis sicca	2263	FGFR2	ORPHA:2363
HP:0001097	Keratoconjunctivitis sicca	2261	FGFR3	ORPHA:2363
HP:0001097	Keratoconjunctivitis sicca	2255	FGF10	ORPHA:2363
HP:0001097	Keratoconjunctivitis sicca	488	ATP2A2	ORPHA:218
HP:0001097	Keratoconjunctivitis sicca	3930	LBR	ORPHA:779
HP:0001097	Keratoconjunctivitis sicca	6720	SREBF1	OMIM:619016
HP:0001097	Keratoconjunctivitis sicca	54941	RNF125	OMIM:616260
HP:0001097	Keratoconjunctivitis sicca	404672	GTF2H5	ORPHA:33364
HP:0001097	Keratoconjunctivitis sicca	833	CARS1	ORPHA:33364
HP:0001097	Keratoconjunctivitis sicca	2068	ERCC2	ORPHA:33364
HP:0001097	Keratoconjunctivitis sicca	2068	ERCC2	OMIM:601675
HP:0001097	Keratoconjunctivitis sicca	2068	ERCC2	OMIM:278730
HP:0001097	Keratoconjunctivitis sicca	7737	RNF113A	ORPHA:33364
HP:0001097	Keratoconjunctivitis sicca	6897	TARS1	ORPHA:33364
HP:0001097	Keratoconjunctivitis sicca	16	AARS1	ORPHA:33364
HP:0001097	Keratoconjunctivitis sicca	2071	ERCC3	ORPHA:33364
HP:0001097	Keratoconjunctivitis sicca	2961	GTF2E2	ORPHA:33364
HP:0001097	Keratoconjunctivitis sicca	5965	RECQL	OMIM:620370
HP:0001097	Keratoconjunctivitis sicca	4547	MTTP	ORPHA:14
HP:0001097	Keratoconjunctivitis sicca	64127	NOD2	OMIM:617321
HP:0001097	Keratoconjunctivitis sicca	7543	ZFX	OMIM:301118
HP:0001097	Keratoconjunctivitis sicca	4069	LYZ	OMIM:620658
HP:0001097	Keratoconjunctivitis sicca	2200	FBN1	OMIM:616914
HP:0001097	Keratoconjunctivitis sicca	165	AEBP1	ORPHA:536532
HP:0001097	Keratoconjunctivitis sicca	56244	BTNL2	ORPHA:797
HP:0001097	Keratoconjunctivitis sicca	3123	HLA-DRB1	ORPHA:797
HP:0001097	Keratoconjunctivitis sicca	149233	IL23R	ORPHA:117
HP:0001097	Keratoconjunctivitis sicca	6775	STAT4	ORPHA:117
HP:0001097	Keratoconjunctivitis sicca	3586	IL10	ORPHA:117
HP:0001097	Keratoconjunctivitis sicca	4210	MEFV	ORPHA:117
HP:0001097	Keratoconjunctivitis sicca	1230	CCR1	ORPHA:117
HP:0001097	Keratoconjunctivitis sicca	355	FAS	ORPHA:117
HP:0001097	Keratoconjunctivitis sicca	3592	IL12A	ORPHA:117
HP:0001097	Keratoconjunctivitis sicca	101928376	IL12A-AS1	ORPHA:117
HP:0001097	Keratoconjunctivitis sicca	3106	HLA-B	ORPHA:117
HP:0001097	Keratoconjunctivitis sicca	7099	TLR4	ORPHA:117
HP:0001097	Keratoconjunctivitis sicca	3459	IFNGR1	ORPHA:117
HP:0001097	Keratoconjunctivitis sicca	720	C4A	ORPHA:117
HP:0001097	Keratoconjunctivitis sicca	337867	UBAC2	ORPHA:117
HP:0001097	Keratoconjunctivitis sicca	51752	ERAP1	ORPHA:117
HP:0001097	Keratoconjunctivitis sicca	8302	KLRC4	ORPHA:117
HP:0001098	Abnormal fundus morphology	85300	ATCAY	OMIM:601238
HP:0001098	Abnormal fundus morphology	85300	ATCAY	ORPHA:94122
HP:0001098	Abnormal fundus morphology	611	OPN1SW	ORPHA:88629
HP:0001098	Abnormal fundus morphology	112802	KRT71	ORPHA:170
HP:0001098	Abnormal fundus morphology	121391	KRT74	ORPHA:170
HP:0001098	Abnormal fundus morphology	200879	LIPH	ORPHA:170
HP:0001098	Abnormal fundus morphology	10161	LPAR6	ORPHA:170
HP:0001098	Abnormal fundus morphology	147183	KRT25	ORPHA:170
HP:0001098	Abnormal fundus morphology	7084	TK2	ORPHA:254886
HP:0001098	Abnormal fundus morphology	5428	POLG	ORPHA:254886
HP:0001098	Abnormal fundus morphology	79955	PDZD7	OMIM:618003
HP:0001098	Abnormal fundus morphology	5649	RELN	ORPHA:89844
HP:0001098	Abnormal fundus morphology	10300	KATNB1	ORPHA:89844
HP:0001098	Abnormal fundus morphology	54820	NDE1	ORPHA:89844
HP:0001098	Abnormal fundus morphology	65250	CPLANE1	OMIM:614615
HP:0001098	Abnormal fundus morphology	2067	ERCC1	OMIM:610758
HP:0001098	Abnormal fundus morphology	760	CA2	ORPHA:2785
HP:0001098	Abnormal fundus morphology	1497	CTNS	OMIM:219750
HP:0001098	Abnormal fundus morphology	22827	PUF60	ORPHA:508498
HP:0001098	Abnormal fundus morphology	22827	PUF60	ORPHA:508488
HP:0001098	Abnormal fundus morphology	4123	MAN2C1	OMIM:619775
HP:0001098	Abnormal fundus morphology	9158	FIBP	ORPHA:500095
HP:0001098	Abnormal fundus morphology	9158	FIBP	OMIM:617107
HP:0001098	Abnormal fundus morphology	145173	B3GLCT	OMIM:261540
HP:0001098	Abnormal fundus morphology	26005	C2CD3	ORPHA:434179
HP:0001098	Abnormal fundus morphology	26005	C2CD3	OMIM:615948
HP:0001098	Abnormal fundus morphology	9786	KIAA0586	OMIM:616546
HP:0001098	Abnormal fundus morphology	9487	PIGL	OMIM:280000
HP:0001098	Abnormal fundus morphology	9487	PIGL	ORPHA:3474
HP:0001098	Abnormal fundus morphology	8573	CASK	OMIM:300749
HP:0001098	Abnormal fundus morphology	80184	CEP290	OMIM:610188
HP:0001098	Abnormal fundus morphology	2248	FGF3	ORPHA:2791
HP:0001098	Abnormal fundus morphology	3166	HMX1	OMIM:612109
HP:0001098	Abnormal fundus morphology	57167	SALL4	OMIM:607323
HP:0001098	Abnormal fundus morphology	22930	RAB3GAP1	ORPHA:2510
HP:0001098	Abnormal fundus morphology	25782	RAB3GAP2	ORPHA:2510
HP:0001098	Abnormal fundus morphology	22931	RAB18	ORPHA:2510
HP:0001098	Abnormal fundus morphology	128637	TBC1D20	ORPHA:2510
HP:0001098	Abnormal fundus morphology	5076	PAX2	OMIM:120330
HP:0001098	Abnormal fundus morphology	5076	PAX2	ORPHA:1475
HP:0001098	Abnormal fundus morphology	9839	ZEB2	ORPHA:261537
HP:0001098	Abnormal fundus morphology	9839	ZEB2	ORPHA:261552
HP:0001098	Abnormal fundus morphology	7020	TFAP2A	OMIM:113620
HP:0001098	Abnormal fundus morphology	26173	INTS1	OMIM:618571
HP:0001098	Abnormal fundus morphology	54806	AHI1	ORPHA:220493
HP:0001098	Abnormal fundus morphology	56623	INPP5E	ORPHA:220493
HP:0001098	Abnormal fundus morphology	153241	CEP120	ORPHA:220493
HP:0001098	Abnormal fundus morphology	54903	MKS1	ORPHA:220493
HP:0001098	Abnormal fundus morphology	95681	CEP41	ORPHA:220493
HP:0001098	Abnormal fundus morphology	55636	CHD7	OMIM:214800
HP:0001098	Abnormal fundus morphology	5908	RAP1B	OMIM:620654
HP:0001098	Abnormal fundus morphology	7855	FZD5	OMIM:620731
HP:0001098	Abnormal fundus morphology	6297	SALL2	OMIM:216820
HP:0001098	Abnormal fundus morphology	8085	KMT2D	OMIM:147920
HP:0001098	Abnormal fundus morphology	7403	KDM6A	OMIM:147920
HP:0001098	Abnormal fundus morphology	3767	KCNJ11	ORPHA:552
HP:0001098	Abnormal fundus morphology	3767	KCNJ11	ORPHA:99885
HP:0001098	Abnormal fundus morphology	8462	KLF11	ORPHA:552
HP:0001098	Abnormal fundus morphology	2645	GCK	ORPHA:552
HP:0001098	Abnormal fundus morphology	2645	GCK	ORPHA:99885
HP:0001098	Abnormal fundus morphology	26060	APPL1	ORPHA:552
HP:0001098	Abnormal fundus morphology	640	BLK	ORPHA:552
HP:0001098	Abnormal fundus morphology	640	BLK	ORPHA:536
HP:0001098	Abnormal fundus morphology	1056	CEL	ORPHA:552
HP:0001098	Abnormal fundus morphology	4760	NEUROD1	ORPHA:552
HP:0001098	Abnormal fundus morphology	3651	PDX1	ORPHA:552
HP:0001098	Abnormal fundus morphology	3651	PDX1	ORPHA:99885
HP:0001098	Abnormal fundus morphology	6833	ABCC8	ORPHA:552
HP:0001098	Abnormal fundus morphology	6833	ABCC8	ORPHA:99885
HP:0001098	Abnormal fundus morphology	5078	PAX4	ORPHA:552
HP:0001098	Abnormal fundus morphology	3172	HNF4A	ORPHA:552
HP:0001098	Abnormal fundus morphology	6927	HNF1A	ORPHA:552
HP:0001098	Abnormal fundus morphology	3630	INS	ORPHA:552
HP:0001098	Abnormal fundus morphology	3630	INS	ORPHA:99885
HP:0001098	Abnormal fundus morphology	3043	HBB	ORPHA:232
HP:0001098	Abnormal fundus morphology	3043	HBB	ORPHA:251380
HP:0001098	Abnormal fundus morphology	3043	HBB	OMIM:603903
HP:0001098	Abnormal fundus morphology	4547	MTTP	OMIM:200100
HP:0001098	Abnormal fundus morphology	189	AGXT	OMIM:259900
HP:0001098	Abnormal fundus morphology	1355	COX15	OMIM:615119
HP:0001098	Abnormal fundus morphology	79848	CSPP1	OMIM:615636
HP:0001098	Abnormal fundus morphology	1493	CTLA4	ORPHA:900
HP:0001098	Abnormal fundus morphology	1493	CTLA4	ORPHA:536
HP:0001098	Abnormal fundus morphology	26191	PTPN22	ORPHA:900
HP:0001098	Abnormal fundus morphology	26191	PTPN22	ORPHA:536
HP:0001098	Abnormal fundus morphology	3115	HLA-DPB1	ORPHA:900
HP:0001098	Abnormal fundus morphology	5657	PRTN3	ORPHA:900
HP:0001098	Abnormal fundus morphology	3113	HLA-DPA1	ORPHA:900
HP:0001098	Abnormal fundus morphology	3425	IDUA	ORPHA:93473
HP:0001098	Abnormal fundus morphology	5627	PROS1	ORPHA:743
HP:0001098	Abnormal fundus morphology	53335	BCL11A	ORPHA:251380
HP:0001098	Abnormal fundus morphology	10661	KLF1	ORPHA:251380
HP:0001098	Abnormal fundus morphology	3047	HBG1	ORPHA:251380
HP:0001098	Abnormal fundus morphology	3048	HBG2	ORPHA:251380
HP:0001098	Abnormal fundus morphology	10733	PLK4	OMIM:616171
HP:0001098	Abnormal fundus morphology	1387	CREBBP	ORPHA:353281
HP:0001098	Abnormal fundus morphology	25828	TXN2	ORPHA:478029
HP:0001098	Abnormal fundus morphology	25828	TXN2	OMIM:616811
HP:0001098	Abnormal fundus morphology	2068	ERCC2	ORPHA:220295
HP:0001098	Abnormal fundus morphology	2073	ERCC5	ORPHA:220295
HP:0001098	Abnormal fundus morphology	2072	ERCC4	ORPHA:220295
HP:0001098	Abnormal fundus morphology	2071	ERCC3	ORPHA:220295
HP:0001098	Abnormal fundus morphology	224	ALDH3A2	ORPHA:816
HP:0001098	Abnormal fundus morphology	4286	MITF	ORPHA:618
HP:0001098	Abnormal fundus morphology	1019	CDK4	ORPHA:618
HP:0001098	Abnormal fundus morphology	4255	MGMT	ORPHA:618
HP:0001098	Abnormal fundus morphology	54386	TERF2IP	ORPHA:618
HP:0001098	Abnormal fundus morphology	4157	MC1R	ORPHA:618
HP:0001098	Abnormal fundus morphology	65057	ACD	ORPHA:618
HP:0001098	Abnormal fundus morphology	1029	CDKN2A	ORPHA:618
HP:0001098	Abnormal fundus morphology	7015	TERT	ORPHA:618
HP:0001098	Abnormal fundus morphology	25913	POT1	ORPHA:618
HP:0001098	Abnormal fundus morphology	1030	CDKN2B	ORPHA:618
HP:0001098	Abnormal fundus morphology	256471	MFSD8	OMIM:610951
HP:0001098	Abnormal fundus morphology	51128	SAR1B	ORPHA:71
HP:0001098	Abnormal fundus morphology	4758	NEU1	ORPHA:812
HP:0001098	Abnormal fundus morphology	57192	MCOLN1	ORPHA:578
HP:0001098	Abnormal fundus morphology	6774	STAT3	ORPHA:99885
HP:0001098	Abnormal fundus morphology	2215	FCGR3B	ORPHA:536
HP:0001098	Abnormal fundus morphology	6775	STAT4	ORPHA:536
HP:0001098	Abnormal fundus morphology	6775	STAT4	ORPHA:117
HP:0001098	Abnormal fundus morphology	3684	ITGAM	ORPHA:536
HP:0001098	Abnormal fundus morphology	3586	IL10	ORPHA:536
HP:0001098	Abnormal fundus morphology	3586	IL10	ORPHA:117
HP:0001098	Abnormal fundus morphology	221895	JAZF1	ORPHA:536
HP:0001098	Abnormal fundus morphology	11277	TREX1	ORPHA:536
HP:0001098	Abnormal fundus morphology	7292	TNFSF4	ORPHA:536
HP:0001098	Abnormal fundus morphology	720	C4A	ORPHA:536
HP:0001098	Abnormal fundus morphology	720	C4A	ORPHA:117
HP:0001098	Abnormal fundus morphology	55024	BANK1	ORPHA:536
HP:0001098	Abnormal fundus morphology	3500	IGHG1	ORPHA:536
HP:0001098	Abnormal fundus morphology	3654	IRAK1	ORPHA:536
HP:0001098	Abnormal fundus morphology	1380	CR2	ORPHA:536
HP:0001098	Abnormal fundus morphology	5133	PDCD1	ORPHA:536
HP:0001098	Abnormal fundus morphology	2113	ETS1	ORPHA:536
HP:0001098	Abnormal fundus morphology	2213	FCGR2B	ORPHA:536
HP:0001098	Abnormal fundus morphology	10318	TNIP1	ORPHA:536
HP:0001098	Abnormal fundus morphology	7332	UBE2L3	ORPHA:536
HP:0001098	Abnormal fundus morphology	79932	KIAA0319L	ORPHA:536
HP:0001098	Abnormal fundus morphology	4204	MECP2	ORPHA:536
HP:0001098	Abnormal fundus morphology	3663	IRF5	ORPHA:536
HP:0001098	Abnormal fundus morphology	3123	HLA-DRB1	ORPHA:536
HP:0001098	Abnormal fundus morphology	721	C4B	ORPHA:536
HP:0001098	Abnormal fundus morphology	1773	DNASE1	ORPHA:536
HP:0001098	Abnormal fundus morphology	51284	TLR7	ORPHA:536
HP:0001098	Abnormal fundus morphology	6696	SPP1	ORPHA:536
HP:0001098	Abnormal fundus morphology	54899	PXK	ORPHA:536
HP:0001098	Abnormal fundus morphology	7128	TNFAIP3	ORPHA:536
HP:0001098	Abnormal fundus morphology	3423	IDS	ORPHA:217093
HP:0001098	Abnormal fundus morphology	3423	IDS	ORPHA:217085
HP:0001098	Abnormal fundus morphology	5264	PHYH	ORPHA:773
HP:0001098	Abnormal fundus morphology	5191	PEX7	ORPHA:773
HP:0001098	Abnormal fundus morphology	8813	DPM1	OMIM:608799
HP:0001098	Abnormal fundus morphology	8813	DPM1	ORPHA:79322
HP:0001098	Abnormal fundus morphology	348	APOE	ORPHA:158029
HP:0001098	Abnormal fundus morphology	80025	PANK2	ORPHA:216873
HP:0001098	Abnormal fundus morphology	2260	FGFR1	ORPHA:2396
HP:0001098	Abnormal fundus morphology	3845	KRAS	ORPHA:2396
HP:0001098	Abnormal fundus morphology	3643	INSR	ORPHA:769
HP:0001098	Abnormal fundus morphology	3593	IL12B	ORPHA:3287
HP:0001098	Abnormal fundus morphology	3106	HLA-B	ORPHA:3287
HP:0001098	Abnormal fundus morphology	3106	HLA-B	ORPHA:117
HP:0001098	Abnormal fundus morphology	6945	MLX	ORPHA:3287
HP:0001098	Abnormal fundus morphology	79053	ALG8	ORPHA:79325
HP:0001098	Abnormal fundus morphology	4508	MT-ATP6	OMIM:551500
HP:0001098	Abnormal fundus morphology	9203	ZMYM3	OMIM:301111
HP:0001098	Abnormal fundus morphology	5727	PTCH1	ORPHA:77301
HP:0001098	Abnormal fundus morphology	4982	TNFRSF11B	OMIM:239000
HP:0001098	Abnormal fundus morphology	641	BLM	ORPHA:125
HP:0001098	Abnormal fundus morphology	3030	HADHA	ORPHA:5
HP:0001098	Abnormal fundus morphology	10815	CPLX1	ORPHA:280
HP:0001098	Abnormal fundus morphology	54872	PIGG	ORPHA:280
HP:0001098	Abnormal fundus morphology	7469	NELFA	ORPHA:280
HP:0001098	Abnormal fundus morphology	1487	CTBP1	ORPHA:280
HP:0001098	Abnormal fundus morphology	3954	LETM1	ORPHA:280
HP:0001098	Abnormal fundus morphology	7468	NSD2	ORPHA:280
HP:0001098	Abnormal fundus morphology	10533	ATG7	OMIM:619422
HP:0001098	Abnormal fundus morphology	27077	B9D1	OMIM:617120
HP:0001098	Abnormal fundus morphology	375056	MIA3	OMIM:619269
HP:0001098	Abnormal fundus morphology	84314	TMEM107	OMIM:617563
HP:0001098	Abnormal fundus morphology	84314	TMEM107	OMIM:617562
HP:0001098	Abnormal fundus morphology	9907	AP5Z1	ORPHA:306511
HP:0001098	Abnormal fundus morphology	9907	AP5Z1	OMIM:613647
HP:0001098	Abnormal fundus morphology	1301	COL11A1	ORPHA:90654
HP:0001098	Abnormal fundus morphology	79583	TMEM231	OMIM:614970
HP:0001098	Abnormal fundus morphology	203068	TUBB	ORPHA:2505
HP:0001098	Abnormal fundus morphology	10982	MAPRE2	ORPHA:2505
HP:0001098	Abnormal fundus morphology	22954	TRIM32	OMIM:615988
HP:0001098	Abnormal fundus morphology	58497	PRUNE1	ORPHA:544469
HP:0001098	Abnormal fundus morphology	5167	ENPP1	ORPHA:758
HP:0001098	Abnormal fundus morphology	368	ABCC6	ORPHA:758
HP:0001098	Abnormal fundus morphology	79158	GNPTAB	OMIM:252600
HP:0001098	Abnormal fundus morphology	149233	IL23R	ORPHA:117
HP:0001098	Abnormal fundus morphology	4210	MEFV	ORPHA:117
HP:0001098	Abnormal fundus morphology	1230	CCR1	ORPHA:117
HP:0001098	Abnormal fundus morphology	355	FAS	ORPHA:117
HP:0001098	Abnormal fundus morphology	3592	IL12A	ORPHA:117
HP:0001098	Abnormal fundus morphology	101928376	IL12A-AS1	ORPHA:117
HP:0001098	Abnormal fundus morphology	7099	TLR4	ORPHA:117
HP:0001098	Abnormal fundus morphology	3459	IFNGR1	ORPHA:117
HP:0001098	Abnormal fundus morphology	337867	UBAC2	ORPHA:117
HP:0001098	Abnormal fundus morphology	51752	ERAP1	ORPHA:117
HP:0001098	Abnormal fundus morphology	8302	KLRC4	ORPHA:117
HP:0001098	Abnormal fundus morphology	1001	CDH3	ORPHA:1897
HP:0001098	Abnormal fundus morphology	65217	PCDH15	OMIM:601067
HP:0001098	Abnormal fundus morphology	65217	PCDH15	OMIM:602083
HP:0001098	Abnormal fundus morphology	91452	ACBD5	OMIM:618863
HP:0001098	Abnormal fundus morphology	4598	MVK	OMIM:260920
HP:0001098	Abnormal fundus morphology	23126	POGZ	ORPHA:468678
HP:0001098	Abnormal fundus morphology	23126	POGZ	OMIM:616364
HP:0001098	Abnormal fundus morphology	4567	MT-TL1	ORPHA:255210
HP:0001098	Abnormal fundus morphology	4578	MT-TW	ORPHA:255210
HP:0001098	Abnormal fundus morphology	4577	MT-TV	ORPHA:255210
HP:0001098	Abnormal fundus morphology	4566	MT-TK	ORPHA:255210
HP:0001098	Abnormal fundus morphology	6311	ATXN2	OMIM:183090
HP:0001098	Abnormal fundus morphology	4646	MYO6	OMIM:607821
HP:0001098	Abnormal fundus morphology	4509	MT-ATP8	ORPHA:254913
HP:0001098	Abnormal fundus morphology	514	ATP5F1E	ORPHA:254913
HP:0001098	Abnormal fundus morphology	513	ATP5F1D	ORPHA:254913
HP:0001098	Abnormal fundus morphology	498	ATP5F1A	ORPHA:254913
HP:0001098	Abnormal fundus morphology	84833	ATP5MK	ORPHA:254913
HP:0001098	Abnormal fundus morphology	91647	ATPAF2	ORPHA:254913
HP:0001098	Abnormal fundus morphology	26090	ABHD12	OMIM:612674
HP:0001098	Abnormal fundus morphology	10352	WARS2	ORPHA:572798
HP:0001098	Abnormal fundus morphology	10352	WARS2	OMIM:617710
HP:0001098	Abnormal fundus morphology	55012	PPP2R3C	OMIM:618419
HP:0001098	Abnormal fundus morphology	5373	PMM2	OMIM:212065
HP:0001098	Abnormal fundus morphology	5373	PMM2	ORPHA:79318
HP:0001098	Abnormal fundus morphology	491	ATP2B2	OMIM:601386
HP:0001098	Abnormal fundus morphology	1798	DPAGT1	ORPHA:86309
HP:0001098	Abnormal fundus morphology	3098	HK1	OMIM:618547
HP:0001098	Abnormal fundus morphology	4191	MDH2	OMIM:617339
HP:0001098	Abnormal fundus morphology	6134	RPL10	ORPHA:459070
HP:0001098	Abnormal fundus morphology	6134	RPL10	OMIM:300998
HP:0001098	Abnormal fundus morphology	10518	CIB2	OMIM:614869
HP:0001098	Abnormal fundus morphology	124590	USH1G	OMIM:606943
HP:0001098	Abnormal fundus morphology	402	ARL2	OMIM:619082
HP:0001098	Abnormal fundus morphology	7355	SLC35A2	OMIM:300896
HP:0001098	Abnormal fundus morphology	9319	TRIP13	OMIM:617598
HP:0001098	Abnormal fundus morphology	50484	RRM2B	OMIM:268315
HP:0001098	Abnormal fundus morphology	7867	MAPKAPK3	OMIM:617111
HP:0001098	Abnormal fundus morphology	2625	GATA3	ORPHA:2237
HP:0001098	Abnormal fundus morphology	25981	DNAH1	ORPHA:244
HP:0001098	Abnormal fundus morphology	115948	ODAD3	ORPHA:244
HP:0001098	Abnormal fundus morphology	54768	HYDIN	ORPHA:244
HP:0001098	Abnormal fundus morphology	352909	DNAAF3	ORPHA:244
HP:0001098	Abnormal fundus morphology	27148	STK36	ORPHA:244
HP:0001098	Abnormal fundus morphology	51314	NME8	ORPHA:244
HP:0001098	Abnormal fundus morphology	92749	DRC1	ORPHA:244
HP:0001098	Abnormal fundus morphology	54970	TTC12	ORPHA:244
HP:0001098	Abnormal fundus morphology	152110	NEK10	ORPHA:244
HP:0001098	Abnormal fundus morphology	2302	FOXJ1	ORPHA:244
HP:0001098	Abnormal fundus morphology	221421	RSPH9	ORPHA:244
HP:0001098	Abnormal fundus morphology	85478	CCDC65	ORPHA:244
HP:0001098	Abnormal fundus morphology	55036	CCDC40	ORPHA:244
HP:0001098	Abnormal fundus morphology	51364	ZMYND10	ORPHA:244
HP:0001098	Abnormal fundus morphology	64446	DNAI2	ORPHA:244
HP:0001098	Abnormal fundus morphology	8382	NME5	ORPHA:244
HP:0001098	Abnormal fundus morphology	6674	SPAG1	ORPHA:244
HP:0001098	Abnormal fundus morphology	83544	DNAL1	ORPHA:244
HP:0001098	Abnormal fundus morphology	89765	RSPH1	ORPHA:244
HP:0001098	Abnormal fundus morphology	83538	ODAD4	ORPHA:244
HP:0001098	Abnormal fundus morphology	200373	CFAP221	ORPHA:244
HP:0001098	Abnormal fundus morphology	374407	DNAJB13	ORPHA:244
HP:0001098	Abnormal fundus morphology	55172	DNAAF2	ORPHA:244
HP:0001098	Abnormal fundus morphology	161582	DNAAF4	ORPHA:244
HP:0001098	Abnormal fundus morphology	2622	GAS8	ORPHA:244
HP:0001098	Abnormal fundus morphology	23639	DNAAF11	ORPHA:244
HP:0001098	Abnormal fundus morphology	27019	DNAI1	ORPHA:244
HP:0001098	Abnormal fundus morphology	345895	RSPH4A	ORPHA:244
HP:0001098	Abnormal fundus morphology	54919	DNAAF5	ORPHA:244
HP:0001098	Abnormal fundus morphology	85452	CFAP74	ORPHA:244
HP:0001098	Abnormal fundus morphology	93233	ODAD1	ORPHA:244
HP:0001098	Abnormal fundus morphology	55130	ODAD2	ORPHA:244
HP:0001098	Abnormal fundus morphology	1767	DNAH5	ORPHA:244
HP:0001098	Abnormal fundus morphology	83861	RSPH3	ORPHA:244
HP:0001098	Abnormal fundus morphology	345643	MCIDAS	ORPHA:244
HP:0001098	Abnormal fundus morphology	56683	CFAP298	ORPHA:244
HP:0001098	Abnormal fundus morphology	79925	SPEF2	ORPHA:244
HP:0001098	Abnormal fundus morphology	10309	CCNO	ORPHA:244
HP:0001098	Abnormal fundus morphology	115399	LRRC56	ORPHA:244
HP:0001098	Abnormal fundus morphology	139212	DNAAF6	ORPHA:244
HP:0001098	Abnormal fundus morphology	123872	DNAAF1	ORPHA:244
HP:0001098	Abnormal fundus morphology	85016	CFAP300	ORPHA:244
HP:0001098	Abnormal fundus morphology	339829	CCDC39	ORPHA:244
HP:0001098	Abnormal fundus morphology	8701	DNAH11	ORPHA:244
HP:0001098	Abnormal fundus morphology	1770	DNAH9	ORPHA:244
HP:0001098	Abnormal fundus morphology	246176	GAS2L2	ORPHA:244
HP:0001098	Abnormal fundus morphology	3329	HSPD1	ORPHA:100994
HP:0001098	Abnormal fundus morphology	3798	KIF5A	ORPHA:100991
HP:0001098	Abnormal fundus morphology	25861	WHRN	OMIM:611383
HP:0001098	Abnormal fundus morphology	23600	AMACR	OMIM:614307
HP:0001098	Abnormal fundus morphology	443	ASPA	ORPHA:314918
HP:0001098	Abnormal fundus morphology	27235	COQ2	OMIM:607426
HP:0001098	Abnormal fundus morphology	28982	FLVCR1	ORPHA:88628
HP:0001098	Abnormal fundus morphology	28982	FLVCR1	OMIM:609033
HP:0001098	Abnormal fundus morphology	4704	NDUFA9	OMIM:618247
HP:0001098	Abnormal fundus morphology	2232	FDXR	OMIM:617717
HP:0001098	Abnormal fundus morphology	4647	MYO7A	OMIM:276900
HP:0001098	Abnormal fundus morphology	10083	USH1C	OMIM:276900
HP:0001098	Abnormal fundus morphology	10083	USH1C	OMIM:276904
HP:0001098	Abnormal fundus morphology	84059	ADGRV1	OMIM:605472
HP:0001098	Abnormal fundus morphology	9894	TELO2	ORPHA:488642
HP:0001098	Abnormal fundus morphology	617	BCS1L	OMIM:124000
HP:0001098	Abnormal fundus morphology	51	ACOX1	OMIM:264470
HP:0001098	Abnormal fundus morphology	253827	MSRB3	OMIM:613718
HP:0001098	Abnormal fundus morphology	79644	SRD5A3	ORPHA:324737
HP:0001098	Abnormal fundus morphology	23404	EXOSC2	OMIM:617763
HP:0001098	Abnormal fundus morphology	8517	IKBKG	ORPHA:464
HP:0001098	Abnormal fundus morphology	26123	TCTN3	ORPHA:564
HP:0001098	Abnormal fundus morphology	79867	TCTN2	ORPHA:564
HP:0001098	Abnormal fundus morphology	80776	B9D2	ORPHA:564
HP:0001098	Abnormal fundus morphology	79600	TCTN1	ORPHA:564
HP:0001098	Abnormal fundus morphology	51259	TMEM216	ORPHA:564
HP:0001098	Abnormal fundus morphology	57545	CC2D2A	ORPHA:564
HP:0001098	Abnormal fundus morphology	91147	TMEM67	ORPHA:564
HP:0001098	Abnormal fundus morphology	79770	TXNDC15	ORPHA:564
HP:0001098	Abnormal fundus morphology	23322	RPGRIP1L	ORPHA:564
HP:0001098	Abnormal fundus morphology	65062	TMEM237	ORPHA:564
HP:0001098	Abnormal fundus morphology	55670	PEX26	ORPHA:912
HP:0001098	Abnormal fundus morphology	5824	PEX19	ORPHA:912
HP:0001098	Abnormal fundus morphology	5828	PEX2	ORPHA:912
HP:0001098	Abnormal fundus morphology	8504	PEX3	ORPHA:912
HP:0001098	Abnormal fundus morphology	8799	PEX11B	ORPHA:912
HP:0001098	Abnormal fundus morphology	9409	PEX16	ORPHA:912
HP:0001098	Abnormal fundus morphology	5190	PEX6	ORPHA:912
HP:0001098	Abnormal fundus morphology	5830	PEX5	ORPHA:912
HP:0001098	Abnormal fundus morphology	5189	PEX1	ORPHA:912
HP:0001098	Abnormal fundus morphology	5193	PEX12	ORPHA:912
HP:0001098	Abnormal fundus morphology	5194	PEX13	ORPHA:912
HP:0001098	Abnormal fundus morphology	5195	PEX14	ORPHA:912
HP:0001098	Abnormal fundus morphology	5192	PEX10	ORPHA:912
HP:0001098	Abnormal fundus morphology	4693	NDP	ORPHA:649
HP:0001098	Abnormal fundus morphology	5456	POU3F4	ORPHA:1435
HP:0001098	Abnormal fundus morphology	114548	NLRP3	ORPHA:1451
HP:0001098	Abnormal fundus morphology	64132	XYLT2	OMIM:605822
HP:0001098	Abnormal fundus morphology	64132	XYLT2	ORPHA:85194
HP:0001098	Abnormal fundus morphology	8322	FZD4	OMIM:133780
HP:0001098	Abnormal fundus morphology	4041	LRP5	OMIM:133780
HP:0001098	Abnormal fundus morphology	4041	LRP5	ORPHA:2788
HP:0001098	Abnormal fundus morphology	875	CBS	ORPHA:394
HP:0001098	Abnormal fundus morphology	875	CBS	OMIM:236200
HP:0001098	Abnormal fundus morphology	778	CACNA1F	OMIM:300476
HP:0001098	Abnormal fundus morphology	6399	TRAPPC2	ORPHA:93284
HP:0001098	Abnormal fundus morphology	286053	NSMCE2	OMIM:617253
HP:0001098	Abnormal fundus morphology	286053	NSMCE2	ORPHA:436182
HP:0001098	Abnormal fundus morphology	5351	PLOD1	OMIM:225400
HP:0001098	Abnormal fundus morphology	5351	PLOD1	ORPHA:1900
HP:0001098	Abnormal fundus morphology	1859	DYRK1A	ORPHA:268261
HP:0001098	Abnormal fundus morphology	1859	DYRK1A	ORPHA:464311
HP:0001098	Abnormal fundus morphology	652	BMP4	ORPHA:828
HP:0001098	Abnormal fundus morphology	4897	NRCAM	OMIM:619833
HP:0001098	Abnormal fundus morphology	22947	DUX4L1	ORPHA:269
HP:0001098	Abnormal fundus morphology	1789	DNMT3B	ORPHA:269
HP:0001098	Abnormal fundus morphology	2483	FRG1	ORPHA:269
HP:0001098	Abnormal fundus morphology	23347	SMCHD1	ORPHA:269
HP:0001098	Abnormal fundus morphology	100288687	DUX4	ORPHA:269
HP:0001098	Abnormal fundus morphology	2200	FBN1	OMIM:129600
HP:0001098	Abnormal fundus morphology	2200	FBN1	OMIM:154700
HP:0001098	Abnormal fundus morphology	2200	FBN1	ORPHA:2833
HP:0001098	Abnormal fundus morphology	55812	SPATA7	ORPHA:364055
HP:0001098	Abnormal fundus morphology	167691	LCA5	ORPHA:364055
HP:0001098	Abnormal fundus morphology	64412	GZF1	OMIM:617662
HP:0001098	Abnormal fundus morphology	10413	YAP1	ORPHA:1473
HP:0001098	Abnormal fundus morphology	2314	FLII	ORPHA:819
HP:0001098	Abnormal fundus morphology	23096	IQSEC2	ORPHA:819
HP:0001098	Abnormal fundus morphology	10743	RAI1	ORPHA:819
HP:0001098	Abnormal fundus morphology	10743	RAI1	OMIM:182290
HP:0001098	Abnormal fundus morphology	10522	DEAF1	ORPHA:819
HP:0001098	Abnormal fundus morphology	29072	SETD2	OMIM:620157
HP:0001098	Abnormal fundus morphology	29072	SETD2	OMIM:620155
HP:0001098	Abnormal fundus morphology	5080	PAX6	ORPHA:35737
HP:0001098	Abnormal fundus morphology	5080	PAX6	OMIM:120430
HP:0001098	Abnormal fundus morphology	1298	COL9A2	OMIM:614284
HP:0001098	Abnormal fundus morphology	1298	COL9A2	ORPHA:250984
HP:0001098	Abnormal fundus morphology	7275	TUB	OMIM:616188
HP:0001098	Abnormal fundus morphology	113189	CHST14	ORPHA:2953
HP:0001098	Abnormal fundus morphology	113189	CHST14	OMIM:601776
HP:0001098	Abnormal fundus morphology	29940	DSE	ORPHA:2953
HP:0001098	Abnormal fundus morphology	79797	ZNF408	OMIM:616468
HP:0001098	Abnormal fundus morphology	54880	BCOR	ORPHA:2712
HP:0001098	Abnormal fundus morphology	54880	BCOR	OMIM:300166
HP:0001098	Abnormal fundus morphology	2301	FOXE3	ORPHA:83461
HP:0001098	Abnormal fundus morphology	91851	CHRDL1	OMIM:309300
HP:0001098	Abnormal fundus morphology	1280	COL2A1	ORPHA:94068
HP:0001098	Abnormal fundus morphology	1280	COL2A1	OMIM:156550
HP:0001098	Abnormal fundus morphology	1280	COL2A1	ORPHA:90653
HP:0001098	Abnormal fundus morphology	1280	COL2A1	OMIM:183900
HP:0001098	Abnormal fundus morphology	1280	COL2A1	ORPHA:1856
HP:0001098	Abnormal fundus morphology	1280	COL2A1	OMIM:108300
HP:0001098	Abnormal fundus morphology	1280	COL2A1	ORPHA:93296
HP:0001098	Abnormal fundus morphology	1280	COL2A1	ORPHA:485
HP:0001098	Abnormal fundus morphology	3913	LAMB2	OMIM:609049
HP:0001098	Abnormal fundus morphology	3913	LAMB2	OMIM:614199
HP:0001098	Abnormal fundus morphology	79087	ALG12	OMIM:607143
HP:0001098	Abnormal fundus morphology	79087	ALG12	ORPHA:79324
HP:0001098	Abnormal fundus morphology	55214	P3H2	OMIM:614292
HP:0001098	Abnormal fundus morphology	55714	TENM3	OMIM:615145
HP:0001098	Abnormal fundus morphology	92949	ADAMTSL1	ORPHA:521445
HP:0001098	Abnormal fundus morphology	80781	COL18A1	ORPHA:1571
HP:0001098	Abnormal fundus morphology	80781	COL18A1	OMIM:267750
HP:0001098	Abnormal fundus morphology	5062	PAK2	ORPHA:1571
HP:0001098	Abnormal fundus morphology	5062	PAK2	OMIM:618458
HP:0001098	Abnormal fundus morphology	4036	LRP2	ORPHA:2143
HP:0001098	Abnormal fundus morphology	4036	LRP2	OMIM:222448
HP:0001098	Abnormal fundus morphology	1499	CTNNB1	OMIM:617572
HP:0001098	Abnormal fundus morphology	54507	ADAMTSL4	OMIM:225200
HP:0001098	Abnormal fundus morphology	10526	IPO8	OMIM:619472
HP:0001098	Abnormal fundus morphology	4810	NHS	ORPHA:627
HP:0001098	Abnormal fundus morphology	29925	GMPPB	ORPHA:370959
HP:0001098	Abnormal fundus morphology	726	CAPN5	OMIM:193235
HP:0001098	Abnormal fundus morphology	7518	XRCC4	ORPHA:436182
HP:0001098	Abnormal fundus morphology	11107	PRDM5	ORPHA:90354
HP:0001098	Abnormal fundus morphology	84627	ZNF469	ORPHA:90354
HP:0001098	Abnormal fundus morphology	151188	ARL6IP6	ORPHA:1556
HP:0001098	Abnormal fundus morphology	7428	VHL	ORPHA:892
HP:0001098	Abnormal fundus morphology	595	CCND1	ORPHA:892
HP:0001098	Abnormal fundus morphology	3769	KCNJ13	OMIM:193230
HP:0001098	Abnormal fundus morphology	8974	P4HA2	OMIM:617238
HP:0001098	Abnormal fundus morphology	4094	MAF	OMIM:610202
HP:0001098	Abnormal fundus morphology	1302	COL11A2	ORPHA:1427
HP:0001098	Abnormal fundus morphology	84695	LOXL3	OMIM:619781
HP:0001098	Abnormal fundus morphology	7543	ZFX	OMIM:301118
HP:0001098	Abnormal fundus morphology	85378	TUBGCP6	OMIM:251270
HP:0001098	Abnormal fundus morphology	1297	COL9A1	ORPHA:250984
HP:0001098	Abnormal fundus morphology	1299	COL9A3	ORPHA:250984
HP:0001098	Abnormal fundus morphology	80036	TRPM3	OMIM:620253
HP:0001098	Abnormal fundus morphology	90952	ESAM	OMIM:620371
HP:0001098	Abnormal fundus morphology	9488	PIGB	OMIM:618580
HP:0001098	Abnormal fundus morphology	23769	FLRT1	ORPHA:320406
HP:0001098	Abnormal fundus morphology	64837	KLC2	ORPHA:320406
HP:0001098	Abnormal fundus morphology	64837	KLC2	OMIM:609541
HP:0001098	Abnormal fundus morphology	2895	GRID2	OMIM:616204
HP:0001098	Abnormal fundus morphology	7167	TPI1	OMIM:615512
HP:0001098	Abnormal fundus morphology	83700	JAM3	OMIM:613730
HP:0001098	Abnormal fundus morphology	123263	MTFMT	OMIM:614947
HP:0001098	Abnormal fundus morphology	80207	OPA3	OMIM:165300
HP:0001098	Abnormal fundus morphology	6687	SPG7	ORPHA:99013
HP:0001098	Abnormal fundus morphology	6809	STX3	OMIM:619446
HP:0001098	Abnormal fundus morphology	8566	PDXK	OMIM:618511
HP:0001098	Abnormal fundus morphology	84816	RTN4IP1	OMIM:616732
HP:0001098	Abnormal fundus morphology	5010	CLDN11	OMIM:619328
HP:0001098	Abnormal fundus morphology	9179	AP4M1	OMIM:612936
HP:0001098	Abnormal fundus morphology	54471	MIEF1	OMIM:620550
HP:0001098	Abnormal fundus morphology	4718	NDUFC2	OMIM:619170
HP:0001098	Abnormal fundus morphology	84340	GFM2	ORPHA:565624
HP:0001098	Abnormal fundus morphology	64834	ELOVL1	OMIM:618527
HP:0001098	Abnormal fundus morphology	9692	PRORP	OMIM:619737
HP:0001098	Abnormal fundus morphology	23327	NEDD4L	OMIM:617201
HP:0001098	Abnormal fundus morphology	8550	MAPKAPK5	OMIM:619869
HP:0001098	Abnormal fundus morphology	54664	TMEM106B	OMIM:617964
HP:0001098	Abnormal fundus morphology	9927	MFN2	OMIM:601152
HP:0001098	Abnormal fundus morphology	9927	MFN2	OMIM:617087
HP:0001098	Abnormal fundus morphology	149371	EXOC8	OMIM:619076
HP:0001098	Abnormal fundus morphology	1861	TOR1A	OMIM:618947
HP:0001098	Abnormal fundus morphology	90624	LYRM7	OMIM:615838
HP:0001098	Abnormal fundus morphology	3748	KCNC3	ORPHA:98768
HP:0001098	Abnormal fundus morphology	27349	MCAT	OMIM:620583
HP:0001098	Abnormal fundus morphology	1615	DARS1	OMIM:615281
HP:0001098	Abnormal fundus morphology	55617	TASP1	OMIM:618950
HP:0001098	Abnormal fundus morphology	56947	MFF	ORPHA:485421
HP:0001098	Abnormal fundus morphology	56947	MFF	OMIM:617086
HP:0001098	Abnormal fundus morphology	3187	HNRNPH1	OMIM:620083
HP:0001098	Abnormal fundus morphology	2055	CLN8	ORPHA:1947
HP:0001098	Abnormal fundus morphology	84233	TMEM126A	OMIM:612989
HP:0001098	Abnormal fundus morphology	28962	OSTM1	OMIM:259720
HP:0001098	Abnormal fundus morphology	55181	SMG8	OMIM:619268
HP:0001098	Abnormal fundus morphology	55331	ACER3	OMIM:617762
HP:0001098	Abnormal fundus morphology	9181	ARHGEF2	OMIM:617523
HP:0001098	Abnormal fundus morphology	10939	AFG3L2	OMIM:618977
HP:0001098	Abnormal fundus morphology	27445	PCLO	OMIM:608027
HP:0001098	Abnormal fundus morphology	6310	ATXN1	OMIM:164400
HP:0001098	Abnormal fundus morphology	10594	PRPF8	OMIM:600059
HP:0001098	Abnormal fundus morphology	10594	PRPF8	ORPHA:791
HP:0001098	Abnormal fundus morphology	92840	REEP6	ORPHA:791
HP:0001098	Abnormal fundus morphology	130557	ZNF513	ORPHA:791
HP:0001098	Abnormal fundus morphology	582	BBS1	ORPHA:791
HP:0001098	Abnormal fundus morphology	582	BBS1	OMIM:209900
HP:0001098	Abnormal fundus morphology	92211	CDHR1	ORPHA:791
HP:0001098	Abnormal fundus morphology	23568	ARL2BP	ORPHA:791
HP:0001098	Abnormal fundus morphology	6101	RP1	ORPHA:791
HP:0001098	Abnormal fundus morphology	3419	IDH3A	ORPHA:791
HP:0001098	Abnormal fundus morphology	4751	NEK2	ORPHA:791
HP:0001098	Abnormal fundus morphology	346007	EYS	ORPHA:791
HP:0001098	Abnormal fundus morphology	8100	IFT88	ORPHA:791
HP:0001098	Abnormal fundus morphology	23020	SNRNP200	ORPHA:791
HP:0001098	Abnormal fundus morphology	762	CA4	ORPHA:791
HP:0001098	Abnormal fundus morphology	138050	HGSNAT	ORPHA:791
HP:0001098	Abnormal fundus morphology	196	AHR	ORPHA:791
HP:0001098	Abnormal fundus morphology	3614	IMPDH1	ORPHA:791
HP:0001098	Abnormal fundus morphology	123016	TTC8	ORPHA:791
HP:0001098	Abnormal fundus morphology	6103	RPGR	ORPHA:791
HP:0001098	Abnormal fundus morphology	26160	IFT172	ORPHA:791
HP:0001098	Abnormal fundus morphology	26160	IFT172	OMIM:615630
HP:0001098	Abnormal fundus morphology	26121	PRPF31	ORPHA:791
HP:0001098	Abnormal fundus morphology	583	BBS2	ORPHA:791
HP:0001098	Abnormal fundus morphology	583	BBS2	OMIM:615981
HP:0001098	Abnormal fundus morphology	4117	MAK	ORPHA:791
HP:0001098	Abnormal fundus morphology	25794	FSCN2	ORPHA:791
HP:0001098	Abnormal fundus morphology	375298	CERKL	ORPHA:791
HP:0001098	Abnormal fundus morphology	3420	IDH3B	ORPHA:791
HP:0001098	Abnormal fundus morphology	57670	KIAA1549	ORPHA:791
HP:0001098	Abnormal fundus morphology	24148	PRPF6	ORPHA:791
HP:0001098	Abnormal fundus morphology	10461	MERTK	ORPHA:791
HP:0001098	Abnormal fundus morphology	57709	SLC7A14	ORPHA:791
HP:0001098	Abnormal fundus morphology	768206	PRCD	ORPHA:791
HP:0001098	Abnormal fundus morphology	7399	USH2A	ORPHA:791
HP:0001098	Abnormal fundus morphology	23370	ARHGEF18	ORPHA:791
HP:0001098	Abnormal fundus morphology	6100	RP9	ORPHA:791
HP:0001098	Abnormal fundus morphology	10002	NR2E3	ORPHA:791
HP:0001098	Abnormal fundus morphology	84140	FAM161A	ORPHA:791
HP:0001098	Abnormal fundus morphology	403	ARL3	ORPHA:791
HP:0001098	Abnormal fundus morphology	5145	PDE6A	ORPHA:791
HP:0001098	Abnormal fundus morphology	10210	TOPORS	ORPHA:791
HP:0001098	Abnormal fundus morphology	9128	PRPF4	ORPHA:791
HP:0001098	Abnormal fundus morphology	9128	PRPF4	OMIM:615922
HP:0001098	Abnormal fundus morphology	145226	RDH12	ORPHA:791
HP:0001098	Abnormal fundus morphology	50939	IMPG2	ORPHA:791
HP:0001098	Abnormal fundus morphology	8481	OFD1	ORPHA:791
HP:0001098	Abnormal fundus morphology	49855	SCAPER	ORPHA:791
HP:0001098	Abnormal fundus morphology	9742	IFT140	ORPHA:791
HP:0001098	Abnormal fundus morphology	2979	GUCA1B	ORPHA:791
HP:0001098	Abnormal fundus morphology	1258	CNGB1	ORPHA:791
HP:0001098	Abnormal fundus morphology	60509	AGBL5	ORPHA:791
HP:0001098	Abnormal fundus morphology	9785	DHX38	ORPHA:791
HP:0001098	Abnormal fundus morphology	7287	TULP1	ORPHA:791
HP:0001098	Abnormal fundus morphology	7287	TULP1	OMIM:613843
HP:0001098	Abnormal fundus morphology	5995	RGR	ORPHA:791
HP:0001098	Abnormal fundus morphology	9129	PRPF3	ORPHA:791
HP:0001098	Abnormal fundus morphology	55975	KLHL7	ORPHA:791
HP:0001098	Abnormal fundus morphology	3617	IMPG1	ORPHA:791
HP:0001098	Abnormal fundus morphology	94137	RP1L1	ORPHA:791
HP:0001098	Abnormal fundus morphology	55857	KIZ	ORPHA:791
HP:0001098	Abnormal fundus morphology	64218	SEMA4A	ORPHA:791
HP:0001098	Abnormal fundus morphology	4901	NRL	ORPHA:791
HP:0001098	Abnormal fundus morphology	79947	DHDDS	ORPHA:791
HP:0001098	Abnormal fundus morphology	79947	DHDDS	ORPHA:442835
HP:0001098	Abnormal fundus morphology	10681	GNB5	OMIM:617173
HP:0001098	Abnormal fundus morphology	10681	GNB5	ORPHA:542306
HP:0001098	Abnormal fundus morphology	3028	HSD17B10	OMIM:300438
HP:0001098	Abnormal fundus morphology	3028	HSD17B10	ORPHA:391428
HP:0001098	Abnormal fundus morphology	22901	ARSG	OMIM:618144
HP:0001098	Abnormal fundus morphology	1161	ERCC8	ORPHA:90324
HP:0001098	Abnormal fundus morphology	2074	ERCC6	ORPHA:90324
HP:0001098	Abnormal fundus morphology	1356	CP	OMIM:604290
HP:0001098	Abnormal fundus morphology	1356	CP	ORPHA:48818
HP:0001098	Abnormal fundus morphology	10806	SDCCAG8	OMIM:615993
HP:0001098	Abnormal fundus morphology	10806	SDCCAG8	OMIM:613615
HP:0001098	Abnormal fundus morphology	54585	LZTFL1	OMIM:615994
HP:0001098	Abnormal fundus morphology	338	APOB	OMIM:615558
HP:0001098	Abnormal fundus morphology	755	CFAP410	OMIM:602271
HP:0001098	Abnormal fundus morphology	10283	CWC27	OMIM:250410
HP:0001098	Abnormal fundus morphology	10283	CWC27	ORPHA:166035
HP:0001098	Abnormal fundus morphology	54982	CLN6	OMIM:601780
HP:0001098	Abnormal fundus morphology	285362	SUMF1	OMIM:272200
HP:0001098	Abnormal fundus morphology	23503	ZFYVE26	OMIM:270700
HP:0001098	Abnormal fundus morphology	51741	WWOX	OMIM:616211
HP:0001098	Abnormal fundus morphology	51741	WWOX	OMIM:614322
HP:0001098	Abnormal fundus morphology	51741	WWOX	ORPHA:442835
HP:0001098	Abnormal fundus morphology	4976	OPA1	OMIM:616896
HP:0001098	Abnormal fundus morphology	4081	MAB21L1	OMIM:618479
HP:0001098	Abnormal fundus morphology	85015	USP45	OMIM:618513
HP:0001098	Abnormal fundus morphology	1200	TPP1	OMIM:204500
HP:0001098	Abnormal fundus morphology	7486	WRN	OMIM:277700
HP:0001098	Abnormal fundus morphology	284086	NEK8	OMIM:613824
HP:0001098	Abnormal fundus morphology	10908	PNPLA6	OMIM:275400
HP:0001098	Abnormal fundus morphology	10908	PNPLA6	ORPHA:3363
HP:0001098	Abnormal fundus morphology	80208	SPG11	OMIM:604360
HP:0001098	Abnormal fundus morphology	80208	SPG11	ORPHA:2822
HP:0001098	Abnormal fundus morphology	4125	MAN2B1	OMIM:248500
HP:0001098	Abnormal fundus morphology	5538	PPT1	OMIM:256730
HP:0001098	Abnormal fundus morphology	10560	SLC19A2	OMIM:249270
HP:0001098	Abnormal fundus morphology	1203	CLN5	OMIM:256731
HP:0001098	Abnormal fundus morphology	23090	ZNF423	OMIM:614844
HP:0001098	Abnormal fundus morphology	25974	MMACHC	ORPHA:79282
HP:0001098	Abnormal fundus morphology	22897	CEP164	OMIM:614845
HP:0001098	Abnormal fundus morphology	54148	MRPL39	OMIM:620646
HP:0001098	Abnormal fundus morphology	10383	TUBB4B	OMIM:617879
HP:0001098	Abnormal fundus morphology	79140	CCDC28B	OMIM:209900
HP:0001098	Abnormal fundus morphology	23761	PISD	OMIM:618889
HP:0001098	Abnormal fundus morphology	404672	GTF2H5	ORPHA:33364
HP:0001098	Abnormal fundus morphology	833	CARS1	ORPHA:33364
HP:0001098	Abnormal fundus morphology	7737	RNF113A	ORPHA:33364
HP:0001098	Abnormal fundus morphology	136647	MPLKIP	ORPHA:33364
HP:0001098	Abnormal fundus morphology	6897	TARS1	ORPHA:33364
HP:0001098	Abnormal fundus morphology	16	AARS1	ORPHA:33364
HP:0001098	Abnormal fundus morphology	16	AARS1	ORPHA:442835
HP:0001098	Abnormal fundus morphology	2961	GTF2E2	ORPHA:33364
HP:0001098	Abnormal fundus morphology	29929	ALG6	ORPHA:79320
HP:0001098	Abnormal fundus morphology	1737	DLAT	ORPHA:79244
HP:0001098	Abnormal fundus morphology	285440	CYP4V2	OMIM:210370
HP:0001098	Abnormal fundus morphology	64802	NMNAT1	OMIM:619260
HP:0001098	Abnormal fundus morphology	23155	CLCC1	OMIM:609913
HP:0001098	Abnormal fundus morphology	585	BBS4	OMIM:615982
HP:0001098	Abnormal fundus morphology	1201	CLN3	OMIM:204200
HP:0001098	Abnormal fundus morphology	27241	BBS9	OMIM:615986
HP:0001098	Abnormal fundus morphology	3737	KCNA2	ORPHA:442835
HP:0001098	Abnormal fundus morphology	1759	DNM1	ORPHA:442835
HP:0001098	Abnormal fundus morphology	8120	AP3B2	ORPHA:442835
HP:0001098	Abnormal fundus morphology	523	ATP6V1A	ORPHA:442835
HP:0001098	Abnormal fundus morphology	10991	SLC38A3	ORPHA:442835
HP:0001098	Abnormal fundus morphology	51343	FZR1	ORPHA:442835
HP:0001098	Abnormal fundus morphology	3747	KCNC2	ORPHA:442835
HP:0001098	Abnormal fundus morphology	1917	EEF1A2	ORPHA:442835
HP:0001098	Abnormal fundus morphology	23219	FBXO28	ORPHA:442835
HP:0001098	Abnormal fundus morphology	2561	GABRB2	ORPHA:442835
HP:0001098	Abnormal fundus morphology	8831	SYNGAP1	ORPHA:442835
HP:0001098	Abnormal fundus morphology	2558	GABRA5	ORPHA:442835
HP:0001098	Abnormal fundus morphology	2906	GRIN2D	ORPHA:442835
HP:0001098	Abnormal fundus morphology	116150	NUS1	ORPHA:442835
HP:0001098	Abnormal fundus morphology	1213	CLTC	ORPHA:442835
HP:0001098	Abnormal fundus morphology	23334	SZT2	ORPHA:442835
HP:0001098	Abnormal fundus morphology	348980	HCN1	ORPHA:442835
HP:0001098	Abnormal fundus morphology	25977	NECAP1	ORPHA:442835
HP:0001098	Abnormal fundus morphology	23241	PACS2	ORPHA:442835
HP:0001098	Abnormal fundus morphology	6334	SCN8A	ORPHA:442835
HP:0001098	Abnormal fundus morphology	9568	GABBR2	ORPHA:442835
HP:0001098	Abnormal fundus morphology	2555	GABRA2	ORPHA:442835
HP:0001098	Abnormal fundus morphology	55152	DALRD3	ORPHA:442835
HP:0001098	Abnormal fundus morphology	26999	CYFIP2	ORPHA:442835
HP:0001098	Abnormal fundus morphology	4915	NTRK2	ORPHA:442835
HP:0001098	Abnormal fundus morphology	25973	PARS2	ORPHA:442835
HP:0001098	Abnormal fundus morphology	23097	CDK19	ORPHA:442835
HP:0001098	Abnormal fundus morphology	2257	FGF12	ORPHA:442835
HP:0001098	Abnormal fundus morphology	5530	PPP3CA	ORPHA:442835
HP:0001098	Abnormal fundus morphology	478	ATP1A3	ORPHA:442835
HP:0001098	Abnormal fundus morphology	22906	TRAK1	ORPHA:442835
HP:0001098	Abnormal fundus morphology	2566	GABRG2	ORPHA:442835
HP:0001098	Abnormal fundus morphology	7532	YWHAG	ORPHA:442835
HP:0001098	Abnormal fundus morphology	79876	UBA5	ORPHA:442835
HP:0001098	Abnormal fundus morphology	6328	SCN3A	ORPHA:442835
HP:0001098	Abnormal fundus morphology	781	CACNA2D1	ORPHA:442835
HP:0001098	Abnormal fundus morphology	10659	CELF2	ORPHA:442835
HP:0001098	Abnormal fundus morphology	774	CACNA1B	ORPHA:442835
HP:0001098	Abnormal fundus morphology	51412	ACTL6B	ORPHA:442835
HP:0001098	Abnormal fundus morphology	2290	FOXG1	ORPHA:442835
HP:0001098	Abnormal fundus morphology	6506	SLC1A2	ORPHA:442835
HP:0001098	Abnormal fundus morphology	8867	SYNJ1	ORPHA:442835
HP:0001098	Abnormal fundus morphology	477	ATP1A2	ORPHA:442835
HP:0001098	Abnormal fundus morphology	3745	KCNB1	ORPHA:442835
HP:0001098	Abnormal fundus morphology	284111	SLC13A5	ORPHA:442835
HP:0001098	Abnormal fundus morphology	22866	CNKSR2	ORPHA:442835
HP:0001098	Abnormal fundus morphology	773	CACNA1A	ORPHA:442835
HP:0001098	Abnormal fundus morphology	6323	SCN1A	ORPHA:442835
HP:0001098	Abnormal fundus morphology	4000	LMNA	ORPHA:79474
HP:0001098	Abnormal fundus morphology	10464	PIBF1	OMIM:617767
HP:0001098	Abnormal fundus morphology	169522	KCNV2	OMIM:610356
HP:0001098	Abnormal fundus morphology	55768	NGLY1	ORPHA:404454
HP:0001098	Abnormal fundus morphology	80216	ALPK1	OMIM:614979
HP:0001098	Abnormal fundus morphology	27183	VPS4A	OMIM:619273
HP:0001098	Abnormal fundus morphology	25970	SH2B1	ORPHA:261222
HP:0001098	Abnormal fundus morphology	4750	NEK1	OMIM:263520
HP:0001098	Abnormal fundus morphology	92482	BBIP1	OMIM:615995
HP:0001098	Abnormal fundus morphology	92482	BBIP1	ORPHA:110
HP:0001098	Abnormal fundus morphology	54973	INTS11	OMIM:620428
HP:0001098	Abnormal fundus morphology	100151683	RNU4ATAC	ORPHA:353298
HP:0001098	Abnormal fundus morphology	100151683	RNU4ATAC	OMIM:616651
HP:0001098	Abnormal fundus morphology	2896	GRN	OMIM:614706
HP:0001098	Abnormal fundus morphology	5631	PRPS1	ORPHA:423479
HP:0001098	Abnormal fundus morphology	4867	NPHP1	OMIM:266900
HP:0001098	Abnormal fundus morphology	4867	NPHP1	ORPHA:110
HP:0001098	Abnormal fundus morphology	4867	NPHP1	ORPHA:3156
HP:0001098	Abnormal fundus morphology	64801	ARV1	OMIM:617020
HP:0001098	Abnormal fundus morphology	219854	TMEM218	OMIM:619562
HP:0001098	Abnormal fundus morphology	8882	ZPR1	OMIM:619321
HP:0001098	Abnormal fundus morphology	80055	PGAP1	OMIM:615802
HP:0001098	Abnormal fundus morphology	50	ACO2	OMIM:614559
HP:0001098	Abnormal fundus morphology	51010	EXOSC3	OMIM:614678
HP:0001098	Abnormal fundus morphology	128338	DRAM2	OMIM:616502
HP:0001098	Abnormal fundus morphology	4358	MPV17	OMIM:256810
HP:0001098	Abnormal fundus morphology	51109	RDH11	OMIM:616108
HP:0001098	Abnormal fundus morphology	26146	TRAF3IP1	OMIM:616629
HP:0001098	Abnormal fundus morphology	26146	TRAF3IP1	ORPHA:3156
HP:0001098	Abnormal fundus morphology	51524	TMEM138	ORPHA:2318
HP:0001098	Abnormal fundus morphology	51524	TMEM138	OMIM:614465
HP:0001098	Abnormal fundus morphology	55764	IFT122	OMIM:218330
HP:0001098	Abnormal fundus morphology	54539	NDUFB11	ORPHA:2556
HP:0001098	Abnormal fundus morphology	1349	COX7B	ORPHA:2556
HP:0001098	Abnormal fundus morphology	3052	HCCS	ORPHA:2556
HP:0001098	Abnormal fundus morphology	57531	HACE1	ORPHA:464282
HP:0001098	Abnormal fundus morphology	57531	HACE1	OMIM:616756
HP:0001098	Abnormal fundus morphology	283987	HID1	OMIM:619983
HP:0001098	Abnormal fundus morphology	5277	PIGA	OMIM:300868
HP:0001098	Abnormal fundus morphology	9445	ITM2B	OMIM:616079
HP:0001098	Abnormal fundus morphology	1410	CRYAB	OMIM:613763
HP:0001098	Abnormal fundus morphology	5950	RBP4	OMIM:615147
HP:0001098	Abnormal fundus morphology	5230	PGK1	ORPHA:713
HP:0001098	Abnormal fundus morphology	5230	PGK1	OMIM:300653
HP:0001098	Abnormal fundus morphology	7840	ALMS1	ORPHA:64
HP:0001098	Abnormal fundus morphology	11020	IFT27	ORPHA:110
HP:0001098	Abnormal fundus morphology	51057	WDPCP	ORPHA:110
HP:0001098	Abnormal fundus morphology	132320	SCLT1	ORPHA:110
HP:0001098	Abnormal fundus morphology	84984	CEP19	ORPHA:110
HP:0001098	Abnormal fundus morphology	79738	BBS10	ORPHA:110
HP:0001098	Abnormal fundus morphology	79738	BBS10	OMIM:615987
HP:0001098	Abnormal fundus morphology	8195	MKKS	ORPHA:110
HP:0001098	Abnormal fundus morphology	55212	BBS7	ORPHA:110
HP:0001098	Abnormal fundus morphology	166379	BBS12	ORPHA:110
HP:0001098	Abnormal fundus morphology	129880	BBS5	ORPHA:110
HP:0001098	Abnormal fundus morphology	80173	IFT74	ORPHA:110
HP:0001098	Abnormal fundus morphology	55213	RCBTB1	OMIM:617175
HP:0001098	Abnormal fundus morphology	134218	DNAJC21	OMIM:617052
HP:0001098	Abnormal fundus morphology	1182	CLCN3	OMIM:619512
HP:0001098	Abnormal fundus morphology	286	ANK1	ORPHA:251066
HP:0001098	Abnormal fundus morphology	92002	CCNQ	ORPHA:140952
HP:0001098	Abnormal fundus morphology	80210	ARMC9	OMIM:617622
HP:0001098	Abnormal fundus morphology	284217	LAMA1	OMIM:615960
HP:0001098	Abnormal fundus morphology	284217	LAMA1	ORPHA:370022
HP:0001098	Abnormal fundus morphology	57728	WDR19	OMIM:616307
HP:0001098	Abnormal fundus morphology	57728	WDR19	ORPHA:3156
HP:0001098	Abnormal fundus morphology	4921	DDR2	OMIM:618175
HP:0001098	Abnormal fundus morphology	9657	IQCB1	ORPHA:3156
HP:0001098	Abnormal fundus morphology	27130	INVS	ORPHA:3156
HP:0001098	Abnormal fundus morphology	261734	NPHP4	ORPHA:3156
HP:0001098	Abnormal fundus morphology	27031	NPHP3	ORPHA:3156
HP:0001098	Abnormal fundus morphology	9935	MAFB	ORPHA:233
HP:0001098	Abnormal fundus morphology	1123	CHN1	ORPHA:233
HP:0001098	Abnormal fundus morphology	64840	PORCN	OMIM:305600
HP:0001098	Abnormal fundus morphology	64840	PORCN	ORPHA:2092
HP:0001098	Abnormal fundus morphology	8260	NAA10	OMIM:309800
HP:0001098	Abnormal fundus morphology	8260	NAA10	ORPHA:568
HP:0001098	Abnormal fundus morphology	6711	SPTBN1	OMIM:619475
HP:0001098	Abnormal fundus morphology	6469	SHH	OMIM:611638
HP:0001098	Abnormal fundus morphology	79759	ZNF668	OMIM:620194
HP:0001098	Abnormal fundus morphology	6299	SALL1	OMIM:107480
HP:0001098	Abnormal fundus morphology	6299	SALL1	ORPHA:857
HP:0001098	Abnormal fundus morphology	3149	HMGB3	OMIM:300915
HP:0001098	Abnormal fundus morphology	4149	MAX	OMIM:620712
HP:0001098	Abnormal fundus morphology	51339	DACT1	ORPHA:857
HP:0001098	Abnormal fundus morphology	9573	GDF3	OMIM:613702
HP:0001098	Abnormal fundus morphology	9723	SEMA3E	ORPHA:138
HP:0001098	Abnormal fundus morphology	113246	C12orf57	OMIM:218340
HP:0001098	Abnormal fundus morphology	51322	WAC	ORPHA:284169
HP:0001098	Abnormal fundus morphology	57020	VPS35L	OMIM:619135
HP:0001098	Abnormal fundus morphology	57020	VPS35L	ORPHA:7
HP:0001098	Abnormal fundus morphology	55733	HHAT	ORPHA:1422
HP:0001098	Abnormal fundus morphology	8777	MPDZ	OMIM:615219
HP:0001098	Abnormal fundus morphology	6496	SIX3	OMIM:157170
HP:0001098	Abnormal fundus morphology	50945	TBX22	ORPHA:921
HP:0001098	Abnormal fundus morphology	9897	WASHC5	ORPHA:7
HP:0001098	Abnormal fundus morphology	28952	CCDC22	ORPHA:7
HP:0001098	Abnormal fundus morphology	56896	DPYSL5	ORPHA:7
HP:0001098	Abnormal fundus morphology	2639	GCDH	ORPHA:25
HP:0001098	Abnormal fundus morphology	3458	IFNG	ORPHA:88
HP:0001098	Abnormal fundus morphology	5551	PRF1	ORPHA:88
HP:0001098	Abnormal fundus morphology	7012	TERC	ORPHA:88
HP:0001098	Abnormal fundus morphology	51119	SBDS	ORPHA:88
HP:0001098	Abnormal fundus morphology	4615	MYD88	ORPHA:33226
HP:0001098	Abnormal fundus morphology	64131	XYLT1	OMIM:264800
HP:0001098	Abnormal fundus morphology	1785	DNM2	OMIM:615368
HP:0001098	Abnormal fundus morphology	667	DST	OMIM:614653
HP:0001098	Abnormal fundus morphology	4558	MT-TF	ORPHA:550
HP:0001098	Abnormal fundus morphology	4572	MT-TQ	ORPHA:550
HP:0001098	Abnormal fundus morphology	4512	MT-CO1	ORPHA:550
HP:0001098	Abnormal fundus morphology	4513	MT-CO2	ORPHA:550
HP:0001098	Abnormal fundus morphology	4574	MT-TS1	ORPHA:550
HP:0001098	Abnormal fundus morphology	4574	MT-TS1	OMIM:220110
HP:0001098	Abnormal fundus morphology	4575	MT-TS2	ORPHA:550
HP:0001098	Abnormal fundus morphology	4564	MT-TH	ORPHA:550
HP:0001098	Abnormal fundus morphology	54892	NCAPG2	OMIM:618460
HP:0001098	Abnormal fundus morphology	4570	MT-TN	OMIM:220110
HP:0001098	Abnormal fundus morphology	6834	SURF1	OMIM:220110
HP:0001098	Abnormal fundus morphology	246243	RNASEH1	ORPHA:329336
HP:0001098	Abnormal fundus morphology	84334	COA8	ORPHA:436271
HP:0001098	Abnormal fundus morphology	1351	COX8A	OMIM:619059
HP:0001098	Abnormal fundus morphology	55154	MSTO1	OMIM:617675
HP:0001098	Abnormal fundus morphology	55154	MSTO1	ORPHA:502423
HP:0001098	Abnormal fundus morphology	80201	HKDC1	OMIM:619614
HP:0001098	Abnormal fundus morphology	80324	PUS1	OMIM:600462
HP:0001098	Abnormal fundus morphology	7466	WFS1	OMIM:222300
HP:0001098	Abnormal fundus morphology	857	CAV1	OMIM:606721
HP:0001098	Abnormal fundus morphology	51102	MECR	OMIM:617282
HP:0001098	Abnormal fundus morphology	4591	TRIM37	OMIM:253250
HP:0001098	Abnormal fundus morphology	100996717	NOTCH2NLC	OMIM:619473
HP:0001098	Abnormal fundus morphology	81689	ISCA1	OMIM:617613
HP:0001098	Abnormal fundus morphology	3032	HADHB	ORPHA:746
HP:0001098	Abnormal fundus morphology	200894	ARL13B	OMIM:612291
HP:0001098	Abnormal fundus morphology	182	JAG1	OMIM:118450
HP:0001098	Abnormal fundus morphology	3033	HADH	ORPHA:71212
HP:0001098	Abnormal fundus morphology	11128	POLR3A	ORPHA:3455
HP:0001098	Abnormal fundus morphology	9968	MED12	OMIM:301068
HP:0001098	Abnormal fundus morphology	2937	GSS	OMIM:266130
HP:0001098	Abnormal fundus morphology	326	AIRE	OMIM:240300
HP:0001098	Abnormal fundus morphology	6389	SDHA	ORPHA:3208
HP:0001098	Abnormal fundus morphology	6389	SDHA	OMIM:252011
HP:0001098	Abnormal fundus morphology	6390	SDHB	ORPHA:3208
HP:0001098	Abnormal fundus morphology	6392	SDHD	ORPHA:3208
HP:0001098	Abnormal fundus morphology	644096	SDHAF1	ORPHA:3208
HP:0001098	Abnormal fundus morphology	5052	PRDX1	OMIM:277400
HP:0001098	Abnormal fundus morphology	8905	AP1S2	ORPHA:85335
HP:0001098	Abnormal fundus morphology	2624	GATA2	ORPHA:228423
HP:0001098	Abnormal fundus morphology	5728	PTEN	ORPHA:109
HP:0001098	Abnormal fundus morphology	64127	NOD2	ORPHA:90340
HP:0001098	Abnormal fundus morphology	3190	HNRNPK	ORPHA:352665
HP:0001098	Abnormal fundus morphology	3190	HNRNPK	ORPHA:453504
HP:0001098	Abnormal fundus morphology	4644	MYO5A	ORPHA:33445
HP:0001098	Abnormal fundus morphology	171023	ASXL1	OMIM:605039
HP:0001098	Abnormal fundus morphology	9131	AIFM1	ORPHA:83629
HP:0001098	Abnormal fundus morphology	3832	KIF11	ORPHA:2526
HP:0001098	Abnormal fundus morphology	79628	SH3TC2	ORPHA:99949
HP:0001098	Abnormal fundus morphology	89910	UBE3B	ORPHA:2707
HP:0001098	Abnormal fundus morphology	4771	NF2	ORPHA:637
HP:0001098	Abnormal fundus morphology	2202	EFEMP1	ORPHA:98977
HP:0001098	Abnormal fundus morphology	1545	CYP1B1	ORPHA:98977
HP:0001098	Abnormal fundus morphology	4653	MYOC	ORPHA:98977
HP:0001098	Abnormal fundus morphology	7299	TYR	ORPHA:79431
HP:0001098	Abnormal fundus morphology	7299	TYR	ORPHA:79434
HP:0001098	Abnormal fundus morphology	2187	FANCB	ORPHA:3412
HP:0001098	Abnormal fundus morphology	84892	POMGNT2	ORPHA:899
HP:0001098	Abnormal fundus morphology	148789	B3GALNT2	ORPHA:899
HP:0001098	Abnormal fundus morphology	79147	FKRP	ORPHA:899
HP:0001098	Abnormal fundus morphology	29954	POMT2	ORPHA:899
HP:0001098	Abnormal fundus morphology	9215	LARGE1	ORPHA:899
HP:0001098	Abnormal fundus morphology	1282	COL4A1	ORPHA:899
HP:0001098	Abnormal fundus morphology	729920	CRPPA	ORPHA:899
HP:0001098	Abnormal fundus morphology	10329	RXYLT1	ORPHA:899
HP:0001098	Abnormal fundus morphology	1605	DAG1	ORPHA:899
HP:0001098	Abnormal fundus morphology	11041	B4GAT1	ORPHA:899
HP:0001098	Abnormal fundus morphology	10585	POMT1	ORPHA:899
HP:0001098	Abnormal fundus morphology	84197	POMK	ORPHA:899
HP:0001098	Abnormal fundus morphology	2218	FKTN	ORPHA:899
HP:0001098	Abnormal fundus morphology	55624	POMGNT1	ORPHA:899
HP:0001098	Abnormal fundus morphology	3476	IGBP1	OMIM:300472
HP:0001098	Abnormal fundus morphology	3476	IGBP1	ORPHA:52055
HP:0001098	Abnormal fundus morphology	4072	EPCAM	ORPHA:92050
HP:0001098	Abnormal fundus morphology	105371045	PERCC1	ORPHA:92050
HP:0001098	Abnormal fundus morphology	54496	PRMT7	OMIM:617157
HP:0001098	Abnormal fundus morphology	1663	DDX11	OMIM:613398
HP:0001098	Abnormal fundus morphology	25836	NIPBL	OMIM:122470
HP:0001098	Abnormal fundus morphology	10653	SPINT2	OMIM:270420
HP:0001098	Abnormal fundus morphology	8295	TRRAP	OMIM:618454
HP:0001098	Abnormal fundus morphology	6608	SMO	ORPHA:1553
HP:0001098	Abnormal fundus morphology	83479	DDX59	OMIM:174300
HP:0001098	Abnormal fundus morphology	735	C9	OMIM:615591
HP:0001098	Abnormal fundus morphology	5654	HTRA1	OMIM:610149
HP:0001098	Abnormal fundus morphology	1471	CST3	OMIM:611953
HP:0001098	Abnormal fundus morphology	23078	VWA8	OMIM:620422
HP:0001098	Abnormal fundus morphology	10516	FBLN5	OMIM:608895
HP:0001098	Abnormal fundus morphology	10516	FBLN5	OMIM:619764
HP:0001098	Abnormal fundus morphology	10878	CFHR3	OMIM:603075
HP:0001098	Abnormal fundus morphology	83872	HMCN1	OMIM:603075
HP:0001098	Abnormal fundus morphology	3078	CFHR1	OMIM:603075
HP:0001098	Abnormal fundus morphology	2192	FBLN1	ORPHA:404451
HP:0001098	Abnormal fundus morphology	427	ASAH1	ORPHA:333
HP:0001098	Abnormal fundus morphology	55129	ANO10	ORPHA:284289
HP:0001098	Abnormal fundus morphology	84131	CEP78	OMIM:617236
HP:0001098	Abnormal fundus morphology	3980	LIG3	OMIM:619780
HP:0001098	Abnormal fundus morphology	2201	FBN2	OMIM:616118
HP:0001098	Abnormal fundus morphology	2077	ERF	OMIM:600775
HP:0001098	Abnormal fundus morphology	10735	STAG2	OMIM:301043
HP:0001098	Abnormal fundus morphology	3145	HMBS	OMIM:620704
HP:0001098	Abnormal fundus morphology	775	CACNA1C	OMIM:620029
HP:0001098	Abnormal fundus morphology	55605	KIF21A	ORPHA:45358
HP:0001098	Abnormal fundus morphology	347733	TUBB2B	ORPHA:45358
HP:0001098	Abnormal fundus morphology	7846	TUBA1A	ORPHA:45358
HP:0001098	Abnormal fundus morphology	7846	TUBA1A	ORPHA:171680
HP:0001098	Abnormal fundus morphology	401	PHOX2A	ORPHA:45358
HP:0001098	Abnormal fundus morphology	10381	TUBB3	ORPHA:45358
HP:0001098	Abnormal fundus morphology	10381	TUBB3	ORPHA:300570
HP:0001098	Abnormal fundus morphology	84570	COL25A1	ORPHA:45358
HP:0001098	Abnormal fundus morphology	51807	TUBA8	ORPHA:250972
HP:0001098	Abnormal fundus morphology	8854	ALDH1A2	OMIM:620025
HP:0001098	Abnormal fundus morphology	11267	SNF8	OMIM:620783
HP:0001098	Abnormal fundus morphology	256297	PTF1A	OMIM:609069
HP:0001098	Abnormal fundus morphology	256297	PTF1A	ORPHA:65288
HP:0001098	Abnormal fundus morphology	55593	OTUD5	OMIM:301056
HP:0001098	Abnormal fundus morphology	8443	GNPAT	OMIM:222765
HP:0001098	Abnormal fundus morphology	55215	FANCI	OMIM:609053
HP:0001098	Abnormal fundus morphology	10730	YME1L1	OMIM:617302
HP:0001098	Abnormal fundus morphology	23499	MACF1	ORPHA:572013
HP:0001098	Abnormal fundus morphology	387119	CEP85L	ORPHA:572013
HP:0001098	Abnormal fundus morphology	4784	NFIX	OMIM:602535
HP:0001098	Abnormal fundus morphology	10157	AASS	OMIM:238700
HP:0001098	Abnormal fundus morphology	9401	RECQL4	OMIM:218600
HP:0001098	Abnormal fundus morphology	64121	RRAGC	OMIM:620609
HP:0001098	Abnormal fundus morphology	25930	PTPN23	OMIM:618890
HP:0001098	Abnormal fundus morphology	132158	GLYCTK	OMIM:220120
HP:0001098	Abnormal fundus morphology	1974	EIF4A2	OMIM:620455
HP:0001098	Abnormal fundus morphology	26834	RNU4-2	OMIM:620851
HP:0001098	Abnormal fundus morphology	4747	NEFL	ORPHA:101085
HP:0001098	Abnormal fundus morphology	64864	RFX7	OMIM:620330
HP:0001098	Abnormal fundus morphology	8820	HESX1	OMIM:182230
HP:0001098	Abnormal fundus morphology	8820	HESX1	ORPHA:226307
HP:0001098	Abnormal fundus morphology	8820	HESX1	ORPHA:95494
HP:0001098	Abnormal fundus morphology	8820	HESX1	ORPHA:3157
HP:0001098	Abnormal fundus morphology	50801	KCNK4	OMIM:618381
HP:0001098	Abnormal fundus morphology	7025	NR2F1	ORPHA:401777
HP:0001098	Abnormal fundus morphology	23259	DDHD2	OMIM:615033
HP:0001098	Abnormal fundus morphology	5626	PROP1	ORPHA:226307
HP:0001098	Abnormal fundus morphology	5626	PROP1	ORPHA:95494
HP:0001098	Abnormal fundus morphology	89884	LHX4	ORPHA:226307
HP:0001098	Abnormal fundus morphology	89884	LHX4	ORPHA:95494
HP:0001098	Abnormal fundus morphology	8022	LHX3	ORPHA:226307
HP:0001098	Abnormal fundus morphology	5449	POU1F1	ORPHA:226307
HP:0001098	Abnormal fundus morphology	5449	POU1F1	ORPHA:95494
HP:0001098	Abnormal fundus morphology	2550	GABBR1	OMIM:620502
HP:0001098	Abnormal fundus morphology	8405	SPOP	OMIM:618828
HP:0001098	Abnormal fundus morphology	5293	PIK3CD	ORPHA:221139
HP:0001098	Abnormal fundus morphology	90417	KNSTRN	ORPHA:221139
HP:0001098	Abnormal fundus morphology	415	ARSL	ORPHA:79345
HP:0001098	Abnormal fundus morphology	2736	GLI2	OMIM:610829
HP:0001098	Abnormal fundus morphology	2736	GLI2	ORPHA:95494
HP:0001098	Abnormal fundus morphology	55210	ATAD3A	ORPHA:496790
HP:0001098	Abnormal fundus morphology	57459	GATAD2B	ORPHA:363686
HP:0001098	Abnormal fundus morphology	3170	FOXA2	ORPHA:95494
HP:0001098	Abnormal fundus morphology	5605	MAP2K2	OMIM:615280
HP:0001098	Abnormal fundus morphology	2222	FDFT1	OMIM:618156
HP:0001098	Abnormal fundus morphology	29123	ANKRD11	ORPHA:261250
HP:0001098	Abnormal fundus morphology	2893	GRIA4	OMIM:617864
HP:0001098	Abnormal fundus morphology	5500	PPP1CB	OMIM:617506
HP:0001098	Abnormal fundus morphology	57688	ZSWIM6	OMIM:603671
HP:0001098	Abnormal fundus morphology	4208	MEF2C	ORPHA:228384
HP:0001098	Abnormal fundus morphology	440	ASNS	OMIM:615574
HP:0001098	Abnormal fundus morphology	6651	SON	ORPHA:500150
HP:0001098	Abnormal fundus morphology	51360	MBTPS2	ORPHA:85284
HP:0001098	Abnormal fundus morphology	9928	KIF14	OMIM:617914
HP:0001098	Abnormal fundus morphology	7545	ZIC1	OMIM:618736
HP:0001098	Abnormal fundus morphology	5518	PPP2R1A	ORPHA:457284
HP:0001098	Abnormal fundus morphology	128674	PROKR2	ORPHA:3157
HP:0001098	Abnormal fundus morphology	6658	SOX3	ORPHA:3157
HP:0001098	Abnormal fundus morphology	9915	ARNT2	ORPHA:3157
HP:0001098	Abnormal fundus morphology	3105	HLA-A	ORPHA:179
HP:0001098	Abnormal fundus morphology	8842	PROM1	ORPHA:827
HP:0001098	Abnormal fundus morphology	5961	PRPH2	ORPHA:827
HP:0001098	Abnormal fundus morphology	6785	ELOVL4	ORPHA:827
HP:0001098	Abnormal fundus morphology	24	ABCA4	ORPHA:827
HP:0001098	Abnormal fundus morphology	54714	CNGB3	ORPHA:827
HP:0001098	Abnormal fundus morphology	7078	TIMP3	ORPHA:59181
HP:0001098	Abnormal fundus morphology	23418	CRB1	ORPHA:35612
HP:0001098	Abnormal fundus morphology	7439	BEST1	ORPHA:35612
HP:0001098	Abnormal fundus morphology	26022	TMEM98	ORPHA:35612
HP:0001098	Abnormal fundus morphology	6657	SOX2	ORPHA:35612
HP:0001098	Abnormal fundus morphology	220	ALDH1A3	ORPHA:35612
HP:0001098	Abnormal fundus morphology	646960	PRSS56	ORPHA:35612
HP:0001098	Abnormal fundus morphology	83552	MFRP	ORPHA:35612
HP:0001098	Abnormal fundus morphology	30062	RAX	ORPHA:35612
HP:0001098	Abnormal fundus morphology	5015	OTX2	ORPHA:35612
HP:0001098	Abnormal fundus morphology	4990	SIX6	ORPHA:35612
HP:0001098	Abnormal fundus morphology	6017	RLBP1	ORPHA:85128
HP:0001098	Abnormal fundus morphology	4763	NF1	ORPHA:97685
HP:0001098	Abnormal fundus morphology	1188	CLCNKB	OMIM:607364
HP:0001098	Abnormal fundus morphology	4524	MTHFR	ORPHA:395
HP:0001098	Abnormal fundus morphology	55703	POLR3B	OMIM:614381
HP:0001098	Abnormal fundus morphology	55703	POLR3B	OMIM:607694
HP:0001098	Abnormal fundus morphology	10617	STAMBP	OMIM:614261
HP:0001098	Abnormal fundus morphology	26235	FBXL4	OMIM:615471
HP:0001098	Abnormal fundus morphology	4099	MAG	OMIM:616680
HP:0001098	Abnormal fundus morphology	51256	TBC1D7	OMIM:248000
HP:0001098	Abnormal fundus morphology	1763	DNA2	OMIM:620819
HP:0001098	Abnormal fundus morphology	55823	VPS11	OMIM:616683
HP:0001098	Abnormal fundus morphology	55823	VPS11	ORPHA:466934
HP:0001098	Abnormal fundus morphology	27247	NFU1	OMIM:620938
HP:0001098	Abnormal fundus morphology	23446	SLC44A1	OMIM:618868
HP:0001098	Abnormal fundus morphology	8518	ELP1	ORPHA:1764
HP:0001098	Abnormal fundus morphology	201595	STT3B	OMIM:615597
HP:0001098	Abnormal fundus morphology	201595	STT3B	ORPHA:370924
HP:0001098	Abnormal fundus morphology	2720	GLB1	OMIM:230600
HP:0001098	Abnormal fundus morphology	1786	DNMT1	ORPHA:314404
HP:0001098	Abnormal fundus morphology	1786	DNMT1	OMIM:604121
HP:0001098	Abnormal fundus morphology	84942	WDR73	OMIM:251300
HP:0001098	Abnormal fundus morphology	84942	WDR73	ORPHA:83472
HP:0001098	Abnormal fundus morphology	1736	DKC1	OMIM:305000
HP:0001098	Abnormal fundus morphology	1729	DIAPH1	ORPHA:477814
HP:0001098	Abnormal fundus morphology	1729	DIAPH1	OMIM:616632
HP:0001098	Abnormal fundus morphology	5354	PLP1	ORPHA:99015
HP:0001098	Abnormal fundus morphology	5354	PLP1	ORPHA:280234
HP:0001098	Abnormal fundus morphology	5354	PLP1	OMIM:312080
HP:0001098	Abnormal fundus morphology	5354	PLP1	OMIM:312920
HP:0001098	Abnormal fundus morphology	57165	GJC2	OMIM:608804
HP:0001098	Abnormal fundus morphology	65993	MRPS34	OMIM:617664
HP:0001098	Abnormal fundus morphology	6536	SLC6A9	OMIM:617301
HP:0001098	Abnormal fundus morphology	200205	IBA57	OMIM:616451
HP:0001098	Abnormal fundus morphology	200205	IBA57	ORPHA:468661
HP:0001098	Abnormal fundus morphology	200205	IBA57	OMIM:615330
HP:0001098	Abnormal fundus morphology	51112	TRAPPC12	OMIM:617669
HP:0001098	Abnormal fundus morphology	51112	TRAPPC12	ORPHA:500144
HP:0001098	Abnormal fundus morphology	50964	SOST	ORPHA:1513
HP:0001098	Abnormal fundus morphology	50964	SOST	OMIM:122860
HP:0001098	Abnormal fundus morphology	50964	SOST	ORPHA:3152
HP:0001098	Abnormal fundus morphology	50964	SOST	OMIM:269500
HP:0001098	Abnormal fundus morphology	121340	SP7	ORPHA:1513
HP:0001098	Abnormal fundus morphology	6660	SOX5	ORPHA:313892
HP:0001098	Abnormal fundus morphology	6660	SOX5	OMIM:616803
HP:0001098	Abnormal fundus morphology	410	ARSA	ORPHA:309271
HP:0001098	Abnormal fundus morphology	410	ARSA	ORPHA:309263
HP:0001098	Abnormal fundus morphology	410	ARSA	OMIM:250100
HP:0001098	Abnormal fundus morphology	410	ARSA	ORPHA:309256
HP:0001098	Abnormal fundus morphology	5660	PSAP	ORPHA:309271
HP:0001098	Abnormal fundus morphology	5660	PSAP	ORPHA:309263
HP:0001098	Abnormal fundus morphology	5660	PSAP	OMIM:611721
HP:0001098	Abnormal fundus morphology	5660	PSAP	ORPHA:309256
HP:0001098	Abnormal fundus morphology	5660	PSAP	ORPHA:206436
HP:0001098	Abnormal fundus morphology	7345	UCHL1	OMIM:615491
HP:0001098	Abnormal fundus morphology	7345	UCHL1	OMIM:620221
HP:0001098	Abnormal fundus morphology	284058	KANSL1	ORPHA:363958
HP:0001098	Abnormal fundus morphology	284058	KANSL1	ORPHA:363965
HP:0001098	Abnormal fundus morphology	5105	PCK1	OMIM:261680
HP:0001098	Abnormal fundus morphology	56172	ANKH	OMIM:123000
HP:0001098	Abnormal fundus morphology	7994	KAT6A	ORPHA:457193
HP:0001098	Abnormal fundus morphology	7994	KAT6A	OMIM:616268
HP:0001098	Abnormal fundus morphology	9326	ZNHIT3	ORPHA:2836
HP:0001098	Abnormal fundus morphology	9326	ZNHIT3	OMIM:260565
HP:0001098	Abnormal fundus morphology	55681	SCYL2	OMIM:618766
HP:0001098	Abnormal fundus morphology	2697	GJA1	ORPHA:2710
HP:0001098	Abnormal fundus morphology	2697	GJA1	OMIM:218400
HP:0001098	Abnormal fundus morphology	55149	MTPAP	ORPHA:254343
HP:0001098	Abnormal fundus morphology	55149	MTPAP	OMIM:613672
HP:0001098	Abnormal fundus morphology	10484	SEC23A	OMIM:607812
HP:0001098	Abnormal fundus morphology	22872	SEC31A	OMIM:618651
HP:0001098	Abnormal fundus morphology	83636	C19orf12	OMIM:614298
HP:0001098	Abnormal fundus morphology	83636	C19orf12	OMIM:615043
HP:0001098	Abnormal fundus morphology	5833	PCYT2	OMIM:618770
HP:0001098	Abnormal fundus morphology	388962	BOLA3	OMIM:614299
HP:0001098	Abnormal fundus morphology	79731	NARS2	OMIM:616239
HP:0001098	Abnormal fundus morphology	6905	TBCE	OMIM:617207
HP:0001098	Abnormal fundus morphology	6905	TBCE	ORPHA:496756
HP:0001098	Abnormal fundus morphology	8241	RBM10	OMIM:311900
HP:0001098	Abnormal fundus morphology	8241	RBM10	ORPHA:2886
HP:0001098	Abnormal fundus morphology	27125	AFF4	OMIM:616368
HP:0001098	Abnormal fundus morphology	92609	TIMM50	OMIM:617698
HP:0001098	Abnormal fundus morphology	92609	TIMM50	ORPHA:505216
HP:0001098	Abnormal fundus morphology	51692	CPSF3	OMIM:619876
HP:0001098	Abnormal fundus morphology	150468	CKAP2L	OMIM:272440
HP:0001098	Abnormal fundus morphology	150468	CKAP2L	ORPHA:3255
HP:0001098	Abnormal fundus morphology	8818	DPM2	OMIM:615042
HP:0001098	Abnormal fundus morphology	8818	DPM2	ORPHA:329178
HP:0001098	Abnormal fundus morphology	122961	ISCA2	OMIM:616370
HP:0001098	Abnormal fundus morphology	8733	GPAA1	ORPHA:529665
HP:0001098	Abnormal fundus morphology	8733	GPAA1	OMIM:617810
HP:0001098	Abnormal fundus morphology	4849	CNOT3	OMIM:618672
HP:0001098	Abnormal fundus morphology	9562	MINPP1	OMIM:619527
HP:0001098	Abnormal fundus morphology	9562	MINPP1	ORPHA:284339
HP:0001098	Abnormal fundus morphology	7841	MOGS	ORPHA:79330
HP:0001098	Abnormal fundus morphology	7841	MOGS	OMIM:606056
HP:0001098	Abnormal fundus morphology	5981	RFC1	ORPHA:504476
HP:0001098	Abnormal fundus morphology	197258	FCSK	OMIM:618324
HP:0001098	Abnormal fundus morphology	2395	FXN	OMIM:229300
HP:0001098	Abnormal fundus morphology	2395	FXN	ORPHA:95
HP:0001098	Abnormal fundus morphology	10463	SLC30A9	OMIM:617595
HP:0001098	Abnormal fundus morphology	125988	MICOS13	OMIM:618329
HP:0001098	Abnormal fundus morphology	84168	ANTXR1	OMIM:230740
HP:0001098	Abnormal fundus morphology	84168	ANTXR1	ORPHA:2067
HP:0001098	Abnormal fundus morphology	9725	TMEM63A	OMIM:618688
HP:0001098	Abnormal fundus morphology	9526	MPDU1	ORPHA:79323
HP:0001098	Abnormal fundus morphology	9526	MPDU1	OMIM:609180
HP:0001098	Abnormal fundus morphology	1967	EIF2B1	OMIM:603896
HP:0001098	Abnormal fundus morphology	10195	ALG3	OMIM:601110
HP:0001098	Abnormal fundus morphology	91137	SLC25A46	OMIM:619303
HP:0001098	Abnormal fundus morphology	91137	SLC25A46	ORPHA:2254
HP:0001098	Abnormal fundus morphology	91137	SLC25A46	OMIM:616505
HP:0001098	Abnormal fundus morphology	133686	NADK2	OMIM:616034
HP:0001098	Abnormal fundus morphology	55656	INTS8	OMIM:618572
HP:0001098	Abnormal fundus morphology	11232	POLG2	OMIM:619425
HP:0001098	Abnormal fundus morphology	835	CASP2	OMIM:620653
HP:0001098	Abnormal fundus morphology	9900	SV2A	OMIM:620772
HP:0001098	Abnormal fundus morphology	4594	MMUT	ORPHA:79312
HP:0001098	Abnormal fundus morphology	4594	MMUT	ORPHA:289916
HP:0001098	Abnormal fundus morphology	7291	TWIST1	ORPHA:794
HP:0001098	Abnormal fundus morphology	2261	FGFR3	ORPHA:794
HP:0001098	Abnormal fundus morphology	2261	FGFR3	ORPHA:93262
HP:0001098	Abnormal fundus morphology	4549	MT-RNR1	ORPHA:551
HP:0001098	Abnormal fundus morphology	4571	MT-TP	ORPHA:551
HP:0001098	Abnormal fundus morphology	3912	LAMB1	OMIM:615191
HP:0001098	Abnormal fundus morphology	3912	LAMB1	ORPHA:352682
HP:0001098	Abnormal fundus morphology	10785	WDR4	OMIM:618346
HP:0001098	Abnormal fundus morphology	160418	TMTC3	OMIM:617255
HP:0001098	Abnormal fundus morphology	51728	POLR3K	OMIM:619310
HP:0001098	Abnormal fundus morphology	846	CASR	ORPHA:428
HP:0001098	Abnormal fundus morphology	23345	SYNE1	OMIM:610743
HP:0001098	Abnormal fundus morphology	128869	PIGU	OMIM:618590
HP:0001098	Abnormal fundus morphology	81790	RNF170	OMIM:619686
HP:0001098	Abnormal fundus morphology	23102	TBC1D2B	OMIM:619323
HP:0001098	Abnormal fundus morphology	1436	CSF1R	OMIM:618476
HP:0001098	Abnormal fundus morphology	26610	ELP4	OMIM:617141
HP:0001098	Abnormal fundus morphology	79868	ALG13	OMIM:300884
HP:0001098	Abnormal fundus morphology	10978	CLP1	ORPHA:411493
HP:0001098	Abnormal fundus morphology	8890	EIF2B4	OMIM:620314
HP:0001098	Abnormal fundus morphology	11152	WDR45	ORPHA:329284
HP:0001098	Abnormal fundus morphology	25885	POLR1A	OMIM:620675
HP:0001098	Abnormal fundus morphology	8892	EIF2B2	OMIM:620312
HP:0001098	Abnormal fundus morphology	154881	KCTD7	OMIM:611726
HP:0001098	Abnormal fundus morphology	154881	KCTD7	ORPHA:263516
HP:0001098	Abnormal fundus morphology	79944	L2HGDH	OMIM:236792
HP:0001098	Abnormal fundus morphology	8869	ST3GAL5	OMIM:609056
HP:0001098	Abnormal fundus morphology	6904	TBCD	ORPHA:496641
HP:0001098	Abnormal fundus morphology	6904	TBCD	OMIM:617193
HP:0001098	Abnormal fundus morphology	5934	RBL2	OMIM:619690
HP:0001098	Abnormal fundus morphology	56915	EXOSC5	OMIM:619576
HP:0001098	Abnormal fundus morphology	549	AUH	OMIM:250950
HP:0001098	Abnormal fundus morphology	1312	COMT	ORPHA:567
HP:0001098	Abnormal fundus morphology	221037	JMJD1C	ORPHA:567
HP:0001098	Abnormal fundus morphology	2812	GP1BB	ORPHA:567
HP:0001098	Abnormal fundus morphology	6239	RREB1	ORPHA:567
HP:0001098	Abnormal fundus morphology	7290	HIRA	ORPHA:567
HP:0001098	Abnormal fundus morphology	9632	SEC24C	ORPHA:567
HP:0001098	Abnormal fundus morphology	7353	UFD1	ORPHA:567
HP:0001098	Abnormal fundus morphology	421	ARVCF	ORPHA:567
HP:0001098	Abnormal fundus morphology	2717	GLA	ORPHA:324
HP:0001098	Abnormal fundus morphology	112812	FDX2	OMIM:251900
HP:0001098	Abnormal fundus morphology	23258	DENND5A	OMIM:617281
HP:0001098	Abnormal fundus morphology	27316	RBMX	OMIM:309555
HP:0001098	Abnormal fundus morphology	9758	FRMPD4	OMIM:300983
HP:0001098	Abnormal fundus morphology	54681	P4HTM	OMIM:618493
HP:0001098	Abnormal fundus morphology	5573	PRKAR1A	OMIM:101800
HP:0001098	Abnormal fundus morphology	64374	SIL1	ORPHA:559
HP:0001098	Abnormal fundus morphology	60386	SLC25A19	ORPHA:99742
HP:0001098	Abnormal fundus morphology	60386	SLC25A19	OMIM:607196
HP:0001098	Abnormal fundus morphology	79736	TEFM	OMIM:620451
HP:0001098	Abnormal fundus morphology	84065	TMEM222	OMIM:619470
HP:0001098	Abnormal fundus morphology	29926	GMPPA	ORPHA:869
HP:0001098	Abnormal fundus morphology	60684	TRAPPC11	ORPHA:869
HP:0001098	Abnormal fundus morphology	8086	AAAS	ORPHA:869
HP:0001098	Abnormal fundus morphology	8086	AAAS	OMIM:231550
HP:0001098	Abnormal fundus morphology	526	ATP6V1B2	ORPHA:79500
HP:0001098	Abnormal fundus morphology	57465	TBC1D24	ORPHA:79500
HP:0001098	Abnormal fundus morphology	57465	TBC1D24	ORPHA:352596
HP:0001098	Abnormal fundus morphology	57465	TBC1D24	OMIM:220500
HP:0001098	Abnormal fundus morphology	57465	TBC1D24	OMIM:615338
HP:0001098	Abnormal fundus morphology	22978	NT5C2	ORPHA:320396
HP:0001098	Abnormal fundus morphology	22978	NT5C2	OMIM:613162
HP:0001098	Abnormal fundus morphology	100147744	RNU7-1	OMIM:619487
HP:0001098	Abnormal fundus morphology	51715	RAB23	OMIM:201000
HP:0001098	Abnormal fundus morphology	79152	FA2H	ORPHA:171629
HP:0001098	Abnormal fundus morphology	79152	FA2H	ORPHA:329308
HP:0001098	Abnormal fundus morphology	79152	FA2H	OMIM:612319
HP:0001098	Abnormal fundus morphology	9373	PLAA	ORPHA:521426
HP:0001098	Abnormal fundus morphology	9373	PLAA	OMIM:617527
HP:0001098	Abnormal fundus morphology	23516	SLC39A14	OMIM:144755
HP:0001098	Abnormal fundus morphology	23636	NUP62	ORPHA:225154
HP:0001098	Abnormal fundus morphology	23636	NUP62	OMIM:271930
HP:0001098	Abnormal fundus morphology	53371	NUP54	ORPHA:225154
HP:0001098	Abnormal fundus morphology	103	ADAR	ORPHA:225154
HP:0001098	Abnormal fundus morphology	84231	TRAF7	OMIM:618164
HP:0001098	Abnormal fundus morphology	4668	NAGA	OMIM:609241
HP:0001098	Abnormal fundus morphology	4668	NAGA	ORPHA:79279
HP:0001098	Abnormal fundus morphology	131118	DNAJC19	ORPHA:66634
HP:0001098	Abnormal fundus morphology	131118	DNAJC19	OMIM:610198
HP:0001098	Abnormal fundus morphology	51594	NBAS	OMIM:614800
HP:0001098	Abnormal fundus morphology	11043	MID2	OMIM:300928
HP:0001098	Abnormal fundus morphology	2581	GALC	ORPHA:206436
HP:0001098	Abnormal fundus morphology	2581	GALC	OMIM:245200
HP:0001098	Abnormal fundus morphology	1678	TIMM8A	ORPHA:52368
HP:0001098	Abnormal fundus morphology	129285	PPP1R21	OMIM:619383
HP:0001098	Abnormal fundus morphology	114034	TOE1	ORPHA:284339
HP:0001098	Abnormal fundus morphology	114034	TOE1	OMIM:614969
HP:0001098	Abnormal fundus morphology	4038	LRP4	ORPHA:3152
HP:0001098	Abnormal fundus morphology	1496	CTNNA2	OMIM:618174
HP:0001098	Abnormal fundus morphology	1462	VCAN	OMIM:143200
HP:0001098	Abnormal fundus morphology	8398	PLA2G6	OMIM:610217
HP:0001098	Abnormal fundus morphology	8398	PLA2G6	ORPHA:35069
HP:0001098	Abnormal fundus morphology	8398	PLA2G6	OMIM:256600
HP:0001098	Abnormal fundus morphology	10134	BCAP31	OMIM:300475
HP:0001098	Abnormal fundus morphology	10134	BCAP31	ORPHA:369939
HP:0001098	Abnormal fundus morphology	25821	MTO1	OMIM:614702
HP:0001098	Abnormal fundus morphology	79581	SLC52A2	OMIM:614707
HP:0001098	Abnormal fundus morphology	51218	GLRX5	ORPHA:401866
HP:0001098	Abnormal fundus morphology	51218	GLRX5	OMIM:616859
HP:0001098	Abnormal fundus morphology	170302	ARX	OMIM:300004
HP:0001098	Abnormal fundus morphology	9640	ZNF592	ORPHA:83472
HP:0001098	Abnormal fundus morphology	1717	DHCR7	ORPHA:818
HP:0001098	Abnormal fundus morphology	2475	MTOR	ORPHA:99802
HP:0001098	Abnormal fundus morphology	10000	AKT3	ORPHA:99802
HP:0001098	Abnormal fundus morphology	271	AMPD2	OMIM:615809
HP:0001098	Abnormal fundus morphology	51204	TACO1	OMIM:619052
HP:0001098	Abnormal fundus morphology	55037	PTCD3	OMIM:619057
HP:0001098	Abnormal fundus morphology	1757	SARDH	ORPHA:3129
HP:0001098	Abnormal fundus morphology	1716	DGUOK	ORPHA:329314
HP:0001098	Abnormal fundus morphology	55157	DARS2	ORPHA:137898
HP:0001098	Abnormal fundus morphology	10367	MICU1	ORPHA:401768
HP:0001098	Abnormal fundus morphology	10367	MICU1	OMIM:615673
HP:0001098	Abnormal fundus morphology	10382	TUBB4A	OMIM:612438
HP:0001098	Abnormal fundus morphology	84947	SERAC1	OMIM:614739
HP:0001098	Abnormal fundus morphology	11340	EXOSC8	ORPHA:2254
HP:0001098	Abnormal fundus morphology	5393	EXOSC9	ORPHA:2254
HP:0001098	Abnormal fundus morphology	23287	AGTPBP1	ORPHA:2254
HP:0001098	Abnormal fundus morphology	7443	VRK1	ORPHA:2254
HP:0001098	Abnormal fundus morphology	8050	PDHX	OMIM:245349
HP:0001098	Abnormal fundus morphology	4256	MGP	ORPHA:85202
HP:0001098	Abnormal fundus morphology	471	ATIC	OMIM:608688
HP:0001098	Abnormal fundus morphology	23065	EMC1	ORPHA:480898
HP:0001098	Abnormal fundus morphology	23065	EMC1	OMIM:616875
HP:0001098	Abnormal fundus morphology	55275	VPS53	OMIM:615851
HP:0001098	Abnormal fundus morphology	50628	GEMIN4	OMIM:617913
HP:0001098	Abnormal fundus morphology	283989	TSEN54	OMIM:277470
HP:0001098	Abnormal fundus morphology	81846	SBF2	ORPHA:99956
HP:0001098	Abnormal fundus morphology	92154	MTSS2	OMIM:620086
HP:0001098	Abnormal fundus morphology	23590	PDSS1	OMIM:614651
HP:0001098	Abnormal fundus morphology	8216	LZTR1	OMIM:605275
HP:0001098	Abnormal fundus morphology	9230	RAB11B	OMIM:617807
HP:0001098	Abnormal fundus morphology	7507	XPA	ORPHA:910
HP:0001098	Abnormal fundus morphology	7508	XPC	ORPHA:910
HP:0001098	Abnormal fundus morphology	1643	DDB2	ORPHA:910
HP:0001098	Abnormal fundus morphology	10075	HUWE1	OMIM:309590
HP:0001098	Abnormal fundus morphology	53616	ADAM22	OMIM:617933
HP:0001098	Abnormal fundus morphology	7473	WNT3	ORPHA:3301
HP:0001098	Abnormal fundus morphology	340419	RSPO2	ORPHA:3301
HP:0001098	Abnormal fundus morphology	9496	TBX4	ORPHA:3301
HP:0001098	Abnormal fundus morphology	1806	DPYD	OMIM:274270
HP:0001098	Abnormal fundus morphology	998	CDC42	OMIM:616737
HP:0001098	Abnormal fundus morphology	998	CDC42	ORPHA:487796
HP:0001098	Abnormal fundus morphology	10342	TFG	ORPHA:431329
HP:0001098	Abnormal fundus morphology	10342	TFG	OMIM:615658
HP:0001098	Abnormal fundus morphology	9512	PMPCB	OMIM:617954
HP:0001098	Abnormal fundus morphology	2058	EPRS1	OMIM:617951
HP:0001098	Abnormal fundus morphology	54974	THG1L	OMIM:618800
HP:0001098	Abnormal fundus morphology	5604	MAP2K1	ORPHA:1340
HP:0001098	Abnormal fundus morphology	259232	NALCN	OMIM:615419
HP:0001098	Abnormal fundus morphology	128989	TANGO2	ORPHA:480864
HP:0001098	Abnormal fundus morphology	128989	TANGO2	OMIM:616878
HP:0001098	Abnormal fundus morphology	64093	SMOC1	ORPHA:1106
HP:0001098	Abnormal fundus morphology	9420	CYP7B1	OMIM:270800
HP:0001098	Abnormal fundus morphology	57511	COG6	OMIM:614576
HP:0001098	Abnormal fundus morphology	57572	DOCK6	OMIM:614219
HP:0001098	Abnormal fundus morphology	51501	HIKESHI	OMIM:616881
HP:0001098	Abnormal fundus morphology	22934	RPIA	OMIM:608611
HP:0001098	Abnormal fundus morphology	51124	IER3IP1	OMIM:614231
HP:0001098	Abnormal fundus morphology	51816	ADA2	OMIM:615688
HP:0001098	Abnormal fundus morphology	55704	CCDC88A	OMIM:617507
HP:0001098	Abnormal fundus morphology	54676	GTPBP2	OMIM:617988
HP:0001098	Abnormal fundus morphology	387	RHOA	OMIM:618727
HP:0001098	Abnormal fundus morphology	55315	SLC29A3	ORPHA:1782
HP:0001098	Abnormal fundus morphology	57410	SCYL1	ORPHA:466794
HP:0001098	Abnormal fundus morphology	35	ACADS	ORPHA:26792
HP:0001098	Abnormal fundus morphology	10844	TUBGCP2	OMIM:618737
HP:0001098	Abnormal fundus morphology	547	KIF1A	OMIM:614255
HP:0001098	Abnormal fundus morphology	221927	BRAT1	OMIM:614498
HP:0001098	Abnormal fundus morphology	55753	OGDHL	OMIM:619701
HP:0001098	Abnormal fundus morphology	5297	PI4KA	OMIM:619708
HP:0001098	Abnormal fundus morphology	344	APOC2	OMIM:207750
HP:0001098	Abnormal fundus morphology	2538	G6PC1	OMIM:232200
HP:0001098	Abnormal fundus morphology	338328	GPIHBP1	OMIM:615947
HP:0001098	Abnormal fundus morphology	4023	LPL	OMIM:238600
HP:0001098	Abnormal fundus morphology	2542	SLC37A4	OMIM:232220
HP:0001098	Abnormal fundus morphology	2629	GBA1	ORPHA:2072
HP:0001098	Abnormal fundus morphology	3590	IL11RA	OMIM:614188
HP:0001098	Abnormal fundus morphology	6598	SMARCB1	ORPHA:2495
HP:0001098	Abnormal fundus morphology	5155	PDGFB	ORPHA:2495
HP:0001098	Abnormal fundus morphology	51684	SUFU	ORPHA:2495
HP:0001098	Abnormal fundus morphology	6605	SMARCE1	ORPHA:2495
HP:0001098	Abnormal fundus morphology	6522	SLC4A2	OMIM:620366
HP:0001098	Abnormal fundus morphology	158326	FREM1	ORPHA:3366
HP:0001098	Abnormal fundus morphology	4313	MMP2	ORPHA:371428
HP:0001098	Abnormal fundus morphology	4323	MMP14	ORPHA:371428
HP:0001098	Abnormal fundus morphology	7386	UQCRFS1	OMIM:618775
HP:0001098	Abnormal fundus morphology	673	BRAF	OMIM:115150
HP:0001098	Abnormal fundus morphology	27151	CPAMD8	OMIM:617319
HP:0001098	Abnormal fundus morphology	57498	KIDINS220	OMIM:617296
HP:0001098	Abnormal fundus morphology	3291	HSD11B2	ORPHA:320
HP:0001098	Abnormal fundus morphology	3291	HSD11B2	OMIM:218030
HP:0001098	Abnormal fundus morphology	55654	TMEM127	OMIM:171300
HP:0001098	Abnormal fundus morphology	55654	TMEM127	ORPHA:29072
HP:0001098	Abnormal fundus morphology	5979	RET	OMIM:171300
HP:0001098	Abnormal fundus morphology	5979	RET	ORPHA:29072
HP:0001098	Abnormal fundus morphology	5979	RET	ORPHA:276621
HP:0001098	Abnormal fundus morphology	1743	DLST	ORPHA:29072
HP:0001098	Abnormal fundus morphology	23095	KIF1B	ORPHA:29072
HP:0001098	Abnormal fundus morphology	2271	FH	ORPHA:29072
HP:0001098	Abnormal fundus morphology	8402	SLC25A11	ORPHA:29072
HP:0001098	Abnormal fundus morphology	54949	SDHAF2	ORPHA:29072
HP:0001098	Abnormal fundus morphology	6391	SDHC	ORPHA:29072
HP:0001098	Abnormal fundus morphology	1788	DNMT3A	ORPHA:276621
HP:0001098	Abnormal fundus morphology	2034	EPAS1	ORPHA:276621
HP:0001098	Abnormal fundus morphology	220074	LRTOMT	OMIM:611451
HP:0001098	Abnormal fundus morphology	222662	LHFPL5	OMIM:610265
HP:0001098	Abnormal fundus morphology	2677	GGCX	ORPHA:436274
HP:0001098	Abnormal fundus morphology	283652	SLC24A5	ORPHA:370097
HP:0001098	Abnormal fundus morphology	23262	PPIP5K2	OMIM:618422
HP:0001098	Abnormal fundus morphology	9997	SCO2	OMIM:608908
HP:0001098	Abnormal fundus morphology	8314	BAP1	ORPHA:39044
HP:0001098	Abnormal fundus morphology	57105	CYSLTR2	ORPHA:39044
HP:0001098	Abnormal fundus morphology	2776	GNAQ	ORPHA:39044
HP:0001098	Abnormal fundus morphology	2767	GNA11	ORPHA:39044
HP:0001098	Abnormal fundus morphology	23451	SF3B1	ORPHA:39044
HP:0001098	Abnormal fundus morphology	6314	ATXN7	ORPHA:94147
HP:0001098	Abnormal fundus morphology	5158	PDE6B	OMIM:163500
HP:0001098	Abnormal fundus morphology	3000	GUCY2D	OMIM:204000
HP:0001098	Abnormal fundus morphology	6121	RPE65	OMIM:204100
HP:0001098	Abnormal fundus morphology	388939	PCARE	OMIM:613428
HP:0001098	Abnormal fundus morphology	114902	C1QTNF5	ORPHA:67042
HP:0001098	Abnormal fundus morphology	6102	RP2	OMIM:312600
HP:0001098	Abnormal fundus morphology	2591	GALNT3	OMIM:211900
HP:0001098	Abnormal fundus morphology	5290	PIK3CA	OMIM:615108
HP:0001098	Abnormal fundus morphology	207	AKT1	OMIM:615109
HP:0001098	Abnormal fundus morphology	6609	SMPD1	OMIM:607616
HP:0001098	Abnormal fundus morphology	22926	ATF6	ORPHA:49382
HP:0001098	Abnormal fundus morphology	5146	PDE6C	ORPHA:49382
HP:0001098	Abnormal fundus morphology	5149	PDE6H	ORPHA:49382
HP:0001098	Abnormal fundus morphology	2780	GNAT2	ORPHA:49382
HP:0001098	Abnormal fundus morphology	1261	CNGA3	ORPHA:49382
HP:0001098	Abnormal fundus morphology	324	APC	ORPHA:99818
HP:0001098	Abnormal fundus morphology	1908	EDN3	ORPHA:897
HP:0001098	Abnormal fundus morphology	1910	EDNRB	ORPHA:897
HP:0001098	Abnormal fundus morphology	9382	COG1	ORPHA:263508
HP:0001098	Abnormal fundus morphology	4942	OAT	ORPHA:414
HP:0001098	Abnormal fundus morphology	10682	EBP	OMIM:300960
HP:0001098	Abnormal fundus morphology	406987	MIR204	OMIM:616722
HP:0001098	Abnormal fundus morphology	10273	STUB1	ORPHA:412057
HP:0001098	Abnormal fundus morphology	1509	CTSD	OMIM:610127
HP:0001098	Abnormal fundus morphology	51095	TRNT1	OMIM:616959
HP:0001098	Abnormal fundus morphology	63915	BLOC1S5	OMIM:619172
HP:0001098	Abnormal fundus morphology	57724	EPG5	OMIM:242840
HP:0001098	Abnormal fundus morphology	8943	AP3D1	OMIM:617050
HP:0001098	Abnormal fundus morphology	8943	AP3D1	ORPHA:1000
HP:0001098	Abnormal fundus morphology	8943	AP3D1	ORPHA:54
HP:0001098	Abnormal fundus morphology	3257	HPS1	OMIM:203300
HP:0001098	Abnormal fundus morphology	5590	PRKCZ	ORPHA:1606
HP:0001098	Abnormal fundus morphology	2563	GABRD	ORPHA:1606
HP:0001098	Abnormal fundus morphology	23013	SPEN	ORPHA:1606
HP:0001098	Abnormal fundus morphology	8510	MMP23B	ORPHA:1606
HP:0001098	Abnormal fundus morphology	7798	LUZP1	ORPHA:1606
HP:0001098	Abnormal fundus morphology	6497	SKI	ORPHA:1606
HP:0001098	Abnormal fundus morphology	10630	PDPN	ORPHA:1606
HP:0001098	Abnormal fundus morphology	3339	HSPG2	ORPHA:1606
HP:0001098	Abnormal fundus morphology	10277	UBE4B	ORPHA:1606
HP:0001098	Abnormal fundus morphology	8514	KCNAB2	ORPHA:1606
HP:0001098	Abnormal fundus morphology	473	RERE	ORPHA:1606
HP:0001098	Abnormal fundus morphology	63976	PRDM16	ORPHA:1606
HP:0001098	Abnormal fundus morphology	54897	CASZ1	ORPHA:1606
HP:0001098	Abnormal fundus morphology	8546	AP3B1	OMIM:608233
HP:0001098	Abnormal fundus morphology	1130	LYST	ORPHA:352723
HP:0001098	Abnormal fundus morphology	1130	LYST	OMIM:214500
HP:0001098	Abnormal fundus morphology	4935	GPR143	ORPHA:54
HP:0001098	Abnormal fundus morphology	4935	GPR143	OMIM:300500
HP:0001098	Abnormal fundus morphology	89781	HPS4	OMIM:614073
HP:0001098	Abnormal fundus morphology	11234	HPS5	OMIM:614074
HP:0001098	Abnormal fundus morphology	26258	BLOC1S6	OMIM:614171
HP:0001098	Abnormal fundus morphology	388552	BLOC1S3	OMIM:614077
HP:0001098	Abnormal fundus morphology	79803	HPS6	OMIM:614075
HP:0001098	Abnormal fundus morphology	84062	DTNBP1	OMIM:614076
HP:0001098	Abnormal fundus morphology	6663	SOX10	OMIM:611584
HP:0001098	Abnormal fundus morphology	51151	SLC45A2	ORPHA:79435
HP:0001098	Abnormal fundus morphology	4535	MT-ND1	OMIM:535000
HP:0001098	Abnormal fundus morphology	4536	MT-ND2	OMIM:535000
HP:0001098	Abnormal fundus morphology	4538	MT-ND4	OMIM:535000
HP:0001098	Abnormal fundus morphology	4514	MT-CO3	OMIM:535000
HP:0001098	Abnormal fundus morphology	4519	MT-CYB	OMIM:535000
HP:0001098	Abnormal fundus morphology	4540	MT-ND5	OMIM:535000
HP:0001098	Abnormal fundus morphology	4541	MT-ND6	OMIM:535000
HP:0001098	Abnormal fundus morphology	4539	MT-ND4L	OMIM:535000
HP:0001098	Abnormal fundus morphology	4007	PRICKLE3	OMIM:308905
HP:0001098	Abnormal fundus morphology	6804	STX1A	ORPHA:904
HP:0001098	Abnormal fundus morphology	7461	CLIP2	ORPHA:904
HP:0001098	Abnormal fundus morphology	8468	FKBP6	ORPHA:904
HP:0001098	Abnormal fundus morphology	5982	RFC2	ORPHA:904
HP:0001098	Abnormal fundus morphology	2969	GTF2I	ORPHA:904
HP:0001098	Abnormal fundus morphology	3984	LIMK1	ORPHA:904
HP:0001098	Abnormal fundus morphology	9569	GTF2IRD1	ORPHA:904
HP:0001098	Abnormal fundus morphology	155382	VPS37D	ORPHA:904
HP:0001098	Abnormal fundus morphology	155368	METTL27	ORPHA:904
HP:0001098	Abnormal fundus morphology	114049	BUD23	ORPHA:904
HP:0001098	Abnormal fundus morphology	7458	EIF4H	ORPHA:904
HP:0001098	Abnormal fundus morphology	84163	GTF2IRD2	ORPHA:904
HP:0001098	Abnormal fundus morphology	26608	TBL2	ORPHA:904
HP:0001098	Abnormal fundus morphology	653361	NCF1	ORPHA:904
HP:0001098	Abnormal fundus morphology	135886	TMEM270	ORPHA:904
HP:0001098	Abnormal fundus morphology	9031	BAZ1B	ORPHA:904
HP:0001098	Abnormal fundus morphology	2006	ELN	ORPHA:904
HP:0001098	Abnormal fundus morphology	2006	ELN	OMIM:194050
HP:0001098	Abnormal fundus morphology	51085	MLXIPL	OMIM:194050
HP:0001098	Abnormal fundus morphology	1822	ATN1	ORPHA:101
HP:0001098	Abnormal fundus morphology	3949	LDLR	ORPHA:391665
HP:0001098	Abnormal fundus morphology	255738	PCSK9	ORPHA:391665
HP:0001098	Abnormal fundus morphology	26119	LDLRAP1	ORPHA:391665
HP:0001098	Abnormal fundus morphology	64240	ABCG5	ORPHA:391665
HP:0001098	Abnormal fundus morphology	64241	ABCG8	ORPHA:391665
HP:0001098	Abnormal fundus morphology	493856	CISD2	OMIM:604928
HP:0001098	Abnormal fundus morphology	25915	NDUFAF3	ORPHA:2609
HP:0001098	Abnormal fundus morphology	51103	NDUFAF1	ORPHA:2609
HP:0001098	Abnormal fundus morphology	91942	NDUFAF2	ORPHA:2609
HP:0001098	Abnormal fundus morphology	51300	TIMMDC1	ORPHA:2609
HP:0001098	Abnormal fundus morphology	4716	NDUFB10	ORPHA:2609
HP:0001098	Abnormal fundus morphology	4723	NDUFV1	ORPHA:2609
HP:0001098	Abnormal fundus morphology	55572	FOXRED1	ORPHA:2609
HP:0001098	Abnormal fundus morphology	284184	NDUFAF8	ORPHA:2609
HP:0001098	Abnormal fundus morphology	55863	TMEM126B	ORPHA:2609
HP:0001098	Abnormal fundus morphology	4537	MT-ND3	ORPHA:2609
HP:0001098	Abnormal fundus morphology	4729	NDUFV2	ORPHA:2609
HP:0001098	Abnormal fundus morphology	4694	NDUFA1	ORPHA:2609
HP:0001098	Abnormal fundus morphology	4720	NDUFS2	ORPHA:2609
HP:0001098	Abnormal fundus morphology	4724	NDUFS4	ORPHA:2609
HP:0001098	Abnormal fundus morphology	4724	NDUFS4	OMIM:252010
HP:0001098	Abnormal fundus morphology	4726	NDUFS6	ORPHA:2609
HP:0001098	Abnormal fundus morphology	4728	NDUFS8	ORPHA:2609
HP:0001098	Abnormal fundus morphology	4722	NDUFS3	ORPHA:2609
HP:0001098	Abnormal fundus morphology	79133	NDUFAF5	ORPHA:2609
HP:0001098	Abnormal fundus morphology	126328	NDUFA11	ORPHA:2609
HP:0001098	Abnormal fundus morphology	4709	NDUFB3	ORPHA:2609
HP:0001098	Abnormal fundus morphology	80224	NUBPL	ORPHA:2609
HP:0001098	Abnormal fundus morphology	29078	NDUFAF4	ORPHA:2609
HP:0001098	Abnormal fundus morphology	374291	NDUFS7	ORPHA:2609
HP:0001098	Abnormal fundus morphology	4700	NDUFA6	ORPHA:2609
HP:0001098	Abnormal fundus morphology	4719	NDUFS1	ORPHA:2609
HP:0001098	Abnormal fundus morphology	4715	NDUFB9	ORPHA:2609
HP:0001098	Abnormal fundus morphology	6452	SH3BP2	OMIM:118400
HP:0001098	Abnormal fundus morphology	91574	MTRFR	ORPHA:320375
HP:0001098	Abnormal fundus morphology	79639	TMEM53	OMIM:619727
HP:0001098	Abnormal fundus morphology	6709	SPTAN1	OMIM:620538
HP:0001098	Abnormal fundus morphology	51079	NDUFA13	OMIM:618249
HP:0001098	Abnormal fundus morphology	55717	WDR11	OMIM:620237
HP:0001098	Abnormal fundus morphology	686	BTD	ORPHA:79241
HP:0001098	Abnormal fundus morphology	2934	GSN	OMIM:105120
HP:0001098	Abnormal fundus morphology	10102	TSFM	OMIM:610505
HP:0001098	Abnormal fundus morphology	1969	EPHA2	OMIM:116600
HP:0001098	Abnormal fundus morphology	8565	YARS1	OMIM:619418
HP:0001098	Abnormal fundus morphology	2811	GP1BA	OMIM:258660
HP:0001098	Abnormal fundus morphology	4854	NOTCH3	OMIM:125310
HP:0001098	Abnormal fundus morphology	2263	FGFR2	ORPHA:313855
HP:0001098	Abnormal fundus morphology	83696	TRAPPC9	ORPHA:352530
HP:0001098	Abnormal fundus morphology	4595	MUTYH	ORPHA:247798
HP:0001098	Abnormal fundus morphology	388015	RTL1	ORPHA:96334
HP:0001098	Abnormal fundus morphology	8788	DLK1	ORPHA:96334
HP:0001098	Abnormal fundus morphology	55384	MEG3	ORPHA:96334
HP:0001098	Abnormal fundus morphology	6873	TAF2	ORPHA:397951
HP:0001098	Abnormal fundus morphology	63916	ELMO2	ORPHA:3019
HP:0001098	Abnormal fundus morphology	26504	CNNM4	ORPHA:1873
HP:0001098	Abnormal fundus morphology	84839	RAX2	ORPHA:1872
HP:0001098	Abnormal fundus morphology	5956	OPN1LW	ORPHA:1872
HP:0001098	Abnormal fundus morphology	5956	OPN1LW	ORPHA:16
HP:0001098	Abnormal fundus morphology	8754	ADAM9	ORPHA:1872
HP:0001098	Abnormal fundus morphology	22999	RIMS1	ORPHA:1872
HP:0001098	Abnormal fundus morphology	2652	OPN1MW	ORPHA:1872
HP:0001098	Abnormal fundus morphology	2652	OPN1MW	ORPHA:16
HP:0001098	Abnormal fundus morphology	9094	UNC119	ORPHA:1872
HP:0001098	Abnormal fundus morphology	93589	CACNA2D4	ORPHA:1872
HP:0001098	Abnormal fundus morphology	93589	CACNA2D4	ORPHA:215
HP:0001098	Abnormal fundus morphology	2978	GUCA1A	ORPHA:1872
HP:0001098	Abnormal fundus morphology	2978	GUCA1A	ORPHA:1871
HP:0001098	Abnormal fundus morphology	282809	POC1B	ORPHA:1872
HP:0001098	Abnormal fundus morphology	83394	PITPNM3	ORPHA:1872
HP:0001098	Abnormal fundus morphology	23093	TTLL5	ORPHA:1872
HP:0001098	Abnormal fundus morphology	83723	TLCD3B	ORPHA:1872
HP:0001098	Abnormal fundus morphology	9364	RAB28	ORPHA:1872
HP:0001098	Abnormal fundus morphology	22880	MORC2	ORPHA:466768
HP:0001098	Abnormal fundus morphology	65082	VPS33A	ORPHA:505248
HP:0001098	Abnormal fundus morphology	6023	RMRP	ORPHA:175
HP:0001098	Abnormal fundus morphology	7274	TTPA	ORPHA:96
HP:0001098	Abnormal fundus morphology	54476	RNF216	ORPHA:1173
HP:0001098	Abnormal fundus morphology	3075	CFH	ORPHA:75376
HP:0001098	Abnormal fundus morphology	3426	CFI	ORPHA:75376
HP:0001098	Abnormal fundus morphology	9851	KIAA0753	ORPHA:474
HP:0001098	Abnormal fundus morphology	55112	DYNC2I1	ORPHA:474
HP:0001098	Abnormal fundus morphology	57560	IFT80	ORPHA:474
HP:0001098	Abnormal fundus morphology	51626	DYNC2LI1	ORPHA:474
HP:0001098	Abnormal fundus morphology	79659	DYNC2H1	ORPHA:474
HP:0001098	Abnormal fundus morphology	89891	DYNC2I2	ORPHA:474
HP:0001098	Abnormal fundus morphology	79809	TTC21B	ORPHA:474
HP:0001098	Abnormal fundus morphology	343035	RD3	ORPHA:65
HP:0001098	Abnormal fundus morphology	5130	PCYT1A	ORPHA:65
HP:0001098	Abnormal fundus morphology	5130	PCYT1A	ORPHA:85167
HP:0001098	Abnormal fundus morphology	392255	GDF6	ORPHA:65
HP:0001098	Abnormal fundus morphology	6197	RPS6KA3	ORPHA:192
HP:0001098	Abnormal fundus morphology	157680	VPS13B	ORPHA:193
HP:0001098	Abnormal fundus morphology	63895	PIEZO2	OMIM:108145
HP:0001098	Abnormal fundus morphology	5184	PEPD	ORPHA:742
HP:0001098	Abnormal fundus morphology	1121	CHM	ORPHA:180
HP:0001098	Abnormal fundus morphology	8792	TNFRSF11A	ORPHA:2801
HP:0001098	Abnormal fundus morphology	4308	TRPM1	ORPHA:215
HP:0001098	Abnormal fundus morphology	57010	CABP4	ORPHA:215
HP:0001098	Abnormal fundus morphology	345193	LRIT3	ORPHA:215
HP:0001098	Abnormal fundus morphology	2916	GRM6	ORPHA:215
HP:0001098	Abnormal fundus morphology	440435	GPR179	ORPHA:215
HP:0001098	Abnormal fundus morphology	9187	SLC24A1	ORPHA:215
HP:0001098	Abnormal fundus morphology	2784	GNB3	ORPHA:215
HP:0001098	Abnormal fundus morphology	2779	GNAT1	ORPHA:215
HP:0001098	Abnormal fundus morphology	60506	NYX	ORPHA:215
HP:0001098	Abnormal fundus morphology	149461	CLDN19	ORPHA:2196
HP:0001098	Abnormal fundus morphology	27229	TUBGCP4	ORPHA:2518
HP:0001098	Abnormal fundus morphology	2317	FLNB	OMIM:272460
HP:0001098	Abnormal fundus morphology	56980	PRDM10	ORPHA:122
HP:0001098	Abnormal fundus morphology	201163	FLCN	ORPHA:122
HP:0001098	Abnormal fundus morphology	9990	SLC12A6	ORPHA:1496
HP:0001098	Abnormal fundus morphology	4948	OCA2	ORPHA:79432
HP:0001098	Abnormal fundus morphology	4952	OCRL	ORPHA:534
HP:0001098	Abnormal fundus morphology	57479	PRR12	OMIM:619539
HP:0001098	Abnormal fundus morphology	7360	UGP2	OMIM:618744
HP:0001098	Abnormal fundus morphology	3708	ITPR1	OMIM:206700
HP:0001098	Abnormal fundus morphology	4166	CHST6	OMIM:217800
HP:0001098	Abnormal fundus morphology	344658	SAMD7	OMIM:620762
HP:0001098	Abnormal fundus morphology	93426	SYCE1	OMIM:616947
HP:0001098	Abnormal fundus morphology	80169	CTC1	OMIM:612199
HP:0001098	Abnormal fundus morphology	2658	GDF2	ORPHA:774
HP:0001098	Abnormal fundus morphology	94	ACVRL1	ORPHA:774
HP:0001098	Abnormal fundus morphology	4089	SMAD4	ORPHA:774
HP:0001098	Abnormal fundus morphology	2022	ENG	ORPHA:774
HP:0001098	Abnormal fundus morphology	84277	DNAJC30	OMIM:619382
HP:0001098	Abnormal fundus morphology	84277	DNAJC30	ORPHA:104
HP:0001098	Abnormal fundus morphology	79991	STN1	OMIM:617341
HP:0001098	Abnormal fundus morphology	5111	PCNA	ORPHA:438134
HP:0001098	Abnormal fundus morphology	3192	HNRNPU	ORPHA:238769
HP:0001098	Abnormal fundus morphology	9342	SNAP29	OMIM:609528
HP:0001098	Abnormal fundus morphology	54802	TRIT1	OMIM:617873
HP:0001098	Abnormal fundus morphology	55770	EXOC2	OMIM:619306
HP:0001098	Abnormal fundus morphology	5361	PLXNA1	OMIM:619955
HP:0001098	Abnormal fundus morphology	889	KRIT1	OMIM:116860
HP:0001098	Abnormal fundus morphology	84196	USP48	ORPHA:96253
HP:0001098	Abnormal fundus morphology	7157	TP53	ORPHA:96253
HP:0001098	Abnormal fundus morphology	9101	USP8	ORPHA:96253
HP:0001098	Abnormal fundus morphology	64072	CDH23	ORPHA:96253
HP:0001098	Abnormal fundus morphology	2908	NR3C1	ORPHA:96253
HP:0001098	Abnormal fundus morphology	546	ATRX	ORPHA:96253
HP:0001098	Abnormal fundus morphology	7040	TGFB1	ORPHA:1328
HP:0001098	Abnormal fundus morphology	7040	TGFB1	OMIM:131300
HP:0001098	Abnormal fundus morphology	10312	TCIRG1	ORPHA:667
HP:0001098	Abnormal fundus morphology	1186	CLCN7	ORPHA:667
HP:0001098	Abnormal fundus morphology	29887	SNX10	ORPHA:667
HP:0001098	Abnormal fundus morphology	8600	TNFSF11	ORPHA:667
HP:0001098	Abnormal fundus morphology	85465	SELENOI	ORPHA:506353
HP:0001098	Abnormal fundus morphology	4683	NBN	OMIM:251260
HP:0001098	Abnormal fundus morphology	4329	ALDH6A1	OMIM:614105
HP:0001098	Abnormal fundus morphology	56652	TWNK	OMIM:607459
HP:0001098	Abnormal fundus morphology	27072	VPS41	OMIM:619389
HP:0001098	Abnormal fundus morphology	51098	IFT52	OMIM:617102
HP:0001098	Abnormal fundus morphology	3035	HARS1	OMIM:614504
HP:0001098	Abnormal fundus morphology	25914	RTTN	ORPHA:468631
HP:0001098	Abnormal fundus morphology	6742	SSBP1	OMIM:165510
HP:0001098	Abnormal fundus morphology	112752	IFT43	OMIM:617871
HP:0001098	Abnormal fundus morphology	8449	DHX16	OMIM:618733
HP:0001098	Abnormal fundus morphology	63901	FAM111A	OMIM:127000
HP:0001098	Abnormal fundus morphology	63901	FAM111A	ORPHA:93325
HP:0001098	Abnormal fundus morphology	59	ACTA2	OMIM:613834
HP:0001098	Abnormal fundus morphology	11235	PDCD10	ORPHA:221061
HP:0001098	Abnormal fundus morphology	83605	CCM2	ORPHA:221061
HP:0001098	Abnormal fundus morphology	374654	KIF7	OMIM:200990
HP:0001098	Abnormal fundus morphology	5077	PAX3	OMIM:193500
HP:0001098	Abnormal fundus morphology	2296	FOXC1	ORPHA:250923
HP:0001098	Abnormal fundus morphology	54765	TRIM44	ORPHA:250923
HP:0001098	Abnormal fundus morphology	10166	SLC25A15	OMIM:238970
HP:0001098	Abnormal fundus morphology	26277	TINF2	OMIM:268130
HP:0001098	Abnormal fundus morphology	26277	TINF2	OMIM:613990
HP:0001098	Abnormal fundus morphology	26278	SACS	ORPHA:98
HP:0001098	Abnormal fundus morphology	26278	SACS	OMIM:270550
HP:0001098	Abnormal fundus morphology	5159	PDGFRB	OMIM:601812
HP:0001098	Abnormal fundus morphology	7003	TEAD1	OMIM:108985
HP:0001098	Abnormal fundus morphology	9842	PLEKHM1	ORPHA:210110
HP:0001098	Abnormal fundus morphology	1495	CTNNA1	OMIM:608970
HP:0001098	Abnormal fundus morphology	5147	PDE6D	OMIM:615665
HP:0001098	Abnormal fundus morphology	1593	CYP27A1	ORPHA:909
HP:0001098	Abnormal fundus morphology	23474	ETHE1	OMIM:602473
HP:0001098	Abnormal fundus morphology	220202	ATOH7	OMIM:221900
HP:0001098	Abnormal fundus morphology	220202	ATOH7	ORPHA:91495
HP:0001098	Abnormal fundus morphology	84282	RNF135	ORPHA:137634
HP:0001098	Abnormal fundus morphology	7249	TSC2	OMIM:613254
HP:0001098	Abnormal fundus morphology	7249	TSC2	ORPHA:805
HP:0001098	Abnormal fundus morphology	7249	TSC2	ORPHA:538
HP:0001098	Abnormal fundus morphology	7248	TSC1	ORPHA:805
HP:0001098	Abnormal fundus morphology	7248	TSC1	OMIM:191100
HP:0001098	Abnormal fundus morphology	7248	TSC1	ORPHA:538
HP:0001098	Abnormal fundus morphology	5925	RB1	ORPHA:1587
HP:0001098	Abnormal fundus morphology	5925	RB1	OMIM:180200
HP:0001098	Abnormal fundus morphology	5925	RB1	OMIM:259500
HP:0001098	Abnormal fundus morphology	11200	CHEK2	OMIM:259500
HP:0001098	Abnormal fundus morphology	5476	CTSA	ORPHA:351
HP:0001098	Abnormal fundus morphology	5476	CTSA	OMIM:256540
HP:0001098	Abnormal fundus morphology	3074	HEXB	ORPHA:309155
HP:0001098	Abnormal fundus morphology	3074	HEXB	OMIM:268800
HP:0001098	Abnormal fundus morphology	2517	FUCA1	OMIM:230000
HP:0001098	Abnormal fundus morphology	3073	HEXA	OMIM:272800
HP:0001098	Abnormal fundus morphology	2760	GM2A	ORPHA:309246
HP:0001098	Abnormal fundus morphology	54499	TMCO1	OMIM:213980
HP:0001098	Abnormal fundus morphology	54675	CRLS1	OMIM:620167
HP:0001098	Abnormal fundus morphology	7123	CLEC3B	OMIM:619977
HP:0001098	Abnormal fundus morphology	83715	ESPN	OMIM:618632
HP:0001098	Abnormal fundus morphology	5322	PLA2G5	OMIM:228980
HP:0001098	Abnormal fundus morphology	3490	IGFBP7	OMIM:614224
HP:0001098	Abnormal fundus morphology	2161	F12	ORPHA:330
HP:0001098	Abnormal fundus morphology	4016	LOXL1	OMIM:177650
HP:0001098	Abnormal fundus morphology	462	SERPINC1	ORPHA:82
HP:0001098	Abnormal fundus morphology	22856	CHSY1	ORPHA:363417
HP:0001098	Abnormal fundus morphology	7010	TEK	OMIM:617272
HP:0001098	Abnormal fundus morphology	1009	CDH11	OMIM:211380
HP:0001098	Abnormal fundus morphology	136371	ASB10	OMIM:603383
HP:0001098	Abnormal fundus morphology	54487	DGCR8	OMIM:192430
HP:0001098	Abnormal fundus morphology	6899	TBX1	OMIM:192430
HP:0001098	Abnormal fundus morphology	8214	DGCR6	OMIM:192430
HP:0001098	Abnormal fundus morphology	8220	ESS2	OMIM:192430
HP:0001098	Abnormal fundus morphology	9993	DGCR2	OMIM:192430
HP:0001098	Abnormal fundus morphology	1063	CENPF	OMIM:243605
HP:0001098	Abnormal fundus morphology	7490	WT1	OMIM:106210
HP:0001098	Abnormal fundus morphology	10625	IVNS1ABP	OMIM:618969
HP:0001098	Abnormal fundus morphology	3932	LCK	OMIM:615758
HP:0001098	Abnormal fundus morphology	23545	ATP6V0A2	ORPHA:357074
HP:0001098	Abnormal fundus morphology	529	ATP6V1E1	ORPHA:357074
HP:0001098	Abnormal fundus morphology	10059	DNM1L	ORPHA:98673
HP:0001098	Abnormal fundus morphology	146167	SLC38A8	OMIM:609218
HP:0001098	Abnormal fundus morphology	7306	TYRP1	ORPHA:79433
HP:0001098	Abnormal fundus morphology	9699	RIMS2	OMIM:618970
HP:0001098	Abnormal fundus morphology	9371	KIF3B	OMIM:618955
HP:0001098	Abnormal fundus morphology	6533	SLC6A6	OMIM:145350
HP:0001098	Abnormal fundus morphology	2673	GFPT1	OMIM:610542
HP:0001098	Abnormal fundus morphology	1181	CLCN2	OMIM:615651
HP:0001098	Abnormal fundus morphology	71	ACTG1	ORPHA:2995
HP:0001098	Abnormal fundus morphology	60	ACTB	ORPHA:2995
HP:0001098	Abnormal fundus morphology	2615	LRRC32	OMIM:619074
HP:0001098	Abnormal fundus morphology	6011	GRK1	OMIM:613411
HP:0001098	Abnormal fundus morphology	6011	GRK1	ORPHA:75382
HP:0001098	Abnormal fundus morphology	6295	SAG	ORPHA:75382
HP:0001098	Abnormal fundus morphology	6295	SAG	OMIM:258100
HP:0001098	Abnormal fundus morphology	6247	RS1	ORPHA:792
HP:0001098	Abnormal fundus morphology	6247	RS1	OMIM:312700
HP:0001098	Abnormal fundus morphology	23554	TSPAN12	ORPHA:891
HP:0001098	Abnormal fundus morphology	57096	RPGRIP1	OMIM:608194
HP:0001098	Abnormal fundus morphology	6094	ROM1	OMIM:268000
HP:0001098	Abnormal fundus morphology	7401	CLRN1	OMIM:268000
HP:0001098	Abnormal fundus morphology	157657	CFAP418	OMIM:268000
HP:0001098	Abnormal fundus morphology	9227	LRAT	OMIM:268000
HP:0001098	Abnormal fundus morphology	5949	RBP3	OMIM:268000
HP:0001098	Abnormal fundus morphology	1259	CNGA1	OMIM:268000
HP:0001098	Abnormal fundus morphology	5148	PDE6G	OMIM:268000
HP:0001098	Abnormal fundus morphology	23746	AIPL1	OMIM:268000
HP:0001098	Abnormal fundus morphology	1406	CRX	OMIM:268000
HP:0001098	Abnormal fundus morphology	84100	ARL6	OMIM:268000
HP:0001098	Abnormal fundus morphology	6010	RHO	ORPHA:52427
HP:0001098	Abnormal fundus morphology	5959	RDH5	ORPHA:52427
HP:0001098	Abnormal fundus morphology	10058	ABCB6	OMIM:614497
HP:0001098	Abnormal fundus morphology	51134	CEP83	OMIM:615862
HP:0001098	Abnormal fundus morphology	6492	SIM1	ORPHA:398079
HP:0001098	Abnormal fundus morphology	54551	MAGEL2	ORPHA:398069
HP:0001098	Abnormal fundus morphology	1638	DCT	OMIM:619165
HP:0001098	Abnormal fundus morphology	6091	ROBO1	ORPHA:95496
HP:0001098	Abnormal fundus morphology	50937	CDON	ORPHA:95496
HP:0001098	Abnormal fundus morphology	23432	GPR161	ORPHA:95496
HP:0001098	Abnormal fundus morphology	9578	CDC42BPB	OMIM:619841
HP:0001098	Abnormal fundus morphology	1804	DPP6	OMIM:616311
HP:0001098	Abnormal fundus morphology	170692	ADAMTS18	OMIM:615458
HP:0001098	Abnormal fundus morphology	6935	ZEB1	ORPHA:98973
HP:0001098	Abnormal fundus morphology	30813	VSX1	ORPHA:98973
HP:0001098	Abnormal fundus morphology	58495	OVOL2	ORPHA:98973
HP:0001098	Abnormal fundus morphology	79977	GRHL2	ORPHA:98973
HP:0001098	Abnormal fundus morphology	1296	COL8A2	ORPHA:98973
HP:0001098	Abnormal fundus morphology	51163	DBR1	OMIM:620510
HP:0001098	Abnormal fundus morphology	55901	THSD1	OMIM:620244
HP:0001098	Abnormal fundus morphology	126792	B3GALT6	ORPHA:536467
HP:0001098	Abnormal fundus morphology	4327	MMP19	OMIM:611543
HP:0001099	Fundus atrophy	3000	GUCY2D	OMIM:204000
HP:0001099	Fundus atrophy	6121	RPE65	OMIM:204100
HP:0001099	Fundus atrophy	388939	PCARE	OMIM:613428
HP:0001099	Fundus atrophy	114902	C1QTNF5	ORPHA:67042
HP:0001099	Fundus atrophy	6102	RP2	OMIM:312600
HP:0030379	Abnormal proportion of transitional B cells	5295	PIK3R1	OMIM:616005
HP:0030379	Abnormal proportion of transitional B cells	3659	IRF1	OMIM:620668
HP:0030379	Abnormal proportion of transitional B cells	5293	PIK3CD	OMIM:615513
HP:0030379	Abnormal proportion of transitional B cells	9138	ARHGEF1	OMIM:618459
HP:0030374	Decreased proportion of memory B cells	1503	CTPS1	OMIM:615897
HP:0030374	Decreased proportion of memory B cells	5580	PRKCD	OMIM:615559
HP:0030374	Decreased proportion of memory B cells	2000	ELF4	OMIM:301074
HP:0030374	Decreased proportion of memory B cells	3551	IKBKB	OMIM:618204
HP:0030374	Decreased proportion of memory B cells	9138	ARHGEF1	OMIM:618459
HP:0030374	Decreased proportion of memory B cells	10043	TOM1	OMIM:619510
HP:0030374	Decreased proportion of memory B cells	51371	POMP	OMIM:618048
HP:0030374	Decreased proportion of memory B cells	3431	SP110	ORPHA:79124
HP:0030374	Decreased proportion of memory B cells	60468	BACH2	OMIM:618394
HP:0030374	Decreased proportion of memory B cells	8085	KMT2D	OMIM:147920
HP:0030374	Decreased proportion of memory B cells	7403	KDM6A	OMIM:147920
HP:0030374	Decreased proportion of memory B cells	5966	REL	OMIM:619652
HP:0030374	Decreased proportion of memory B cells	54790	TET2	OMIM:619126
HP:0030374	Decreased proportion of memory B cells	930	CD19	OMIM:613493
HP:0030374	Decreased proportion of memory B cells	3937	LCP2	OMIM:619374
HP:0030374	Decreased proportion of memory B cells	8651	SOCS1	OMIM:619375
HP:0030374	Decreased proportion of memory B cells	23308	ICOSLG	OMIM:620825
HP:0030374	Decreased proportion of memory B cells	10525	HYOU1	OMIM:233600
HP:0030374	Decreased proportion of memory B cells	96459	FNIP1	OMIM:619705
HP:0030374	Decreased proportion of memory B cells	359948	IRF2BP2	OMIM:617765
HP:0030374	Decreased proportion of memory B cells	9020	MAP3K14	OMIM:620449
HP:0030374	Decreased proportion of memory B cells	5336	PLCG2	OMIM:614878
HP:0030374	Decreased proportion of memory B cells	5293	PIK3CD	OMIM:615513
HP:0030374	Decreased proportion of memory B cells	3570	IL6R	OMIM:618944
HP:0030374	Decreased proportion of memory B cells	987	LRBA	OMIM:614700
HP:0030374	Decreased proportion of memory B cells	59067	IL21	OMIM:615767
HP:0030374	Decreased proportion of memory B cells	56259	CTNNBL1	OMIM:619846
HP:0030374	Decreased proportion of memory B cells	29851	ICOS	OMIM:607594
HP:0030384	Decreased proportion of marginal zone B cells	8651	SOCS1	OMIM:619375
HP:0030383	Abnormal proportion of marginal zone B cells	8651	SOCS1	OMIM:619375
HP:0030381	Increased proportion of transitional B cells	5295	PIK3R1	OMIM:616005
HP:0030381	Increased proportion of transitional B cells	3659	IRF1	OMIM:620668
HP:0030381	Increased proportion of transitional B cells	5293	PIK3CD	OMIM:615513
HP:0030381	Increased proportion of transitional B cells	9138	ARHGEF1	OMIM:618459
HP:0030389	Abnormal circulating thromboxane concentration	5321	PLA2G4A	OMIM:618372
HP:0030388	Decreased proportion of class-switched memory B cells	5966	REL	OMIM:619652
HP:0030388	Decreased proportion of class-switched memory B cells	54790	TET2	OMIM:619126
HP:0030388	Decreased proportion of class-switched memory B cells	930	CD19	OMIM:613493
HP:0030388	Decreased proportion of class-switched memory B cells	3937	LCP2	OMIM:619374
HP:0030388	Decreased proportion of class-switched memory B cells	8651	SOCS1	OMIM:619375
HP:0030388	Decreased proportion of class-switched memory B cells	23308	ICOSLG	OMIM:620825
HP:0030388	Decreased proportion of class-switched memory B cells	10525	HYOU1	OMIM:233600
HP:0030388	Decreased proportion of class-switched memory B cells	96459	FNIP1	OMIM:619705
HP:0030388	Decreased proportion of class-switched memory B cells	359948	IRF2BP2	OMIM:617765
HP:0030388	Decreased proportion of class-switched memory B cells	9020	MAP3K14	OMIM:620449
HP:0030388	Decreased proportion of class-switched memory B cells	5580	PRKCD	OMIM:615559
HP:0030388	Decreased proportion of class-switched memory B cells	5336	PLCG2	OMIM:614878
HP:0030388	Decreased proportion of class-switched memory B cells	5293	PIK3CD	OMIM:615513
HP:0030388	Decreased proportion of class-switched memory B cells	3570	IL6R	OMIM:618944
HP:0030388	Decreased proportion of class-switched memory B cells	987	LRBA	OMIM:614700
HP:0030388	Decreased proportion of class-switched memory B cells	59067	IL21	OMIM:615767
HP:0030388	Decreased proportion of class-switched memory B cells	56259	CTNNBL1	OMIM:619846
HP:0030388	Decreased proportion of class-switched memory B cells	29851	ICOS	OMIM:607594
HP:0030386	Abnormal proportion of class-switched memory B cells	5966	REL	OMIM:619652
HP:0030386	Abnormal proportion of class-switched memory B cells	54790	TET2	OMIM:619126
HP:0030386	Abnormal proportion of class-switched memory B cells	930	CD19	OMIM:613493
HP:0030386	Abnormal proportion of class-switched memory B cells	3937	LCP2	OMIM:619374
HP:0030386	Abnormal proportion of class-switched memory B cells	8651	SOCS1	OMIM:619375
HP:0030386	Abnormal proportion of class-switched memory B cells	23308	ICOSLG	OMIM:620825
HP:0030386	Abnormal proportion of class-switched memory B cells	10525	HYOU1	OMIM:233600
HP:0030386	Abnormal proportion of class-switched memory B cells	96459	FNIP1	OMIM:619705
HP:0030386	Abnormal proportion of class-switched memory B cells	359948	IRF2BP2	OMIM:617765
HP:0030386	Abnormal proportion of class-switched memory B cells	9020	MAP3K14	OMIM:620449
HP:0030386	Abnormal proportion of class-switched memory B cells	5580	PRKCD	OMIM:615559
HP:0030386	Abnormal proportion of class-switched memory B cells	5336	PLCG2	OMIM:614878
HP:0030386	Abnormal proportion of class-switched memory B cells	5293	PIK3CD	OMIM:615513
HP:0030386	Abnormal proportion of class-switched memory B cells	3570	IL6R	OMIM:618944
HP:0030386	Abnormal proportion of class-switched memory B cells	987	LRBA	OMIM:614700
HP:0030386	Abnormal proportion of class-switched memory B cells	59067	IL21	OMIM:615767
HP:0030386	Abnormal proportion of class-switched memory B cells	56259	CTNNBL1	OMIM:619846
HP:0030386	Abnormal proportion of class-switched memory B cells	29851	ICOS	OMIM:607594
HP:0030393	Endolymphatic sac tumor	7428	VHL	ORPHA:892
HP:0030393	Endolymphatic sac tumor	595	CCND1	ORPHA:892
HP:0030392	Choroid plexus carcinoma	7157	TP53	OMIM:202300
HP:0030392	Choroid plexus carcinoma	7157	TP53	ORPHA:524
HP:0030392	Choroid plexus carcinoma	6598	SMARCB1	OMIM:609322
HP:0030392	Choroid plexus carcinoma	1029	CDKN2A	ORPHA:524
HP:0030392	Choroid plexus carcinoma	4193	MDM2	ORPHA:524
HP:0030392	Choroid plexus carcinoma	11200	CHEK2	ORPHA:524
HP:0030391	Spoken word recognition deficit	4137	MAPT	ORPHA:240112
HP:0030391	Spoken word recognition deficit	4137	MAPT	ORPHA:100070
HP:0030391	Spoken word recognition deficit	2903	GRIN2A	ORPHA:98818
HP:0030391	Spoken word recognition deficit	25978	CHMP2B	ORPHA:100070
HP:0030391	Spoken word recognition deficit	5663	PSEN1	ORPHA:100070
HP:0030391	Spoken word recognition deficit	2896	GRN	ORPHA:100070
HP:0030391	Spoken word recognition deficit	54664	TMEM106B	ORPHA:100070
HP:0030391	Spoken word recognition deficit	54209	TREM2	ORPHA:100070
HP:0030391	Spoken word recognition deficit	7415	VCP	ORPHA:100070
HP:0030391	Spoken word recognition deficit	3028	HSD17B10	ORPHA:391428
HP:0030390	Reduced circulating leukotriene C4 concentration	4056	LTC4S	OMIM:614037
HP:0033601	Glomerular subepithelial immune-complex deposits	57728	WDR19	OMIM:614377
HP:0033601	Glomerular subepithelial immune-complex deposits	57728	WDR19	OMIM:616307
HP:0033603	Glomerular subepithelial deposits	57728	WDR19	OMIM:614377
HP:0033603	Glomerular subepithelial deposits	57728	WDR19	OMIM:616307
HP:0033605	Pustular rash	6850	SYK	OMIM:619381
HP:0033605	Pustular rash	340061	STING1	OMIM:615934
HP:0033605	Pustular rash	3659	IRF1	OMIM:620668
HP:0033605	Pustular rash	23765	IL17RA	OMIM:613953
HP:0033606	Bone marrow maturation arrest	29927	SEC61A1	OMIM:620674
HP:0033606	Bone marrow maturation arrest	2316	FLNA	OMIM:300049
HP:0033606	Bone marrow maturation arrest	81570	CLPB	OMIM:616271
HP:0033606	Bone marrow maturation arrest	1441	CSF3R	OMIM:617014
HP:0033606	Bone marrow maturation arrest	6603	SMARCD2	OMIM:617475
HP:0033606	Bone marrow maturation arrest	84522	JAGN1	OMIM:616022
HP:0033606	Bone marrow maturation arrest	7454	WAS	OMIM:300299
HP:0033606	Bone marrow maturation arrest	6730	SRP68	OMIM:620534
HP:0033606	Bone marrow maturation arrest	6729	SRP54	OMIM:618752
HP:0033607	Bone marrow arrest at the promyelocytic stage	7454	WAS	OMIM:300299
HP:0033607	Bone marrow arrest at the promyelocytic stage	6730	SRP68	OMIM:620534
HP:0033607	Bone marrow arrest at the promyelocytic stage	6729	SRP54	OMIM:618752
HP:0033608	Pulmonary nodule	4688	NCF2	OMIM:233710
HP:0033608	Pulmonary nodule	6772	STAT1	OMIM:614162
HP:0033608	Pulmonary nodule	1493	CTLA4	ORPHA:900
HP:0033608	Pulmonary nodule	26191	PTPN22	ORPHA:900
HP:0033608	Pulmonary nodule	3115	HLA-DPB1	ORPHA:900
HP:0033608	Pulmonary nodule	5657	PRTN3	ORPHA:900
HP:0033608	Pulmonary nodule	3113	HLA-DPA1	ORPHA:900
HP:0430000	Abnormal frontal bone morphology	2137	EXTL3	ORPHA:508533
HP:0430000	Abnormal frontal bone morphology	2137	EXTL3	OMIM:617425
HP:0430000	Abnormal frontal bone morphology	1718	DHCR24	OMIM:602398
HP:0430000	Abnormal frontal bone morphology	1718	DHCR24	ORPHA:35107
HP:0430000	Abnormal frontal bone morphology	1497	CTNS	OMIM:219800
HP:0430000	Abnormal frontal bone morphology	11253	MAN1B1	ORPHA:397941
HP:0430000	Abnormal frontal bone morphology	26235	FBXL4	OMIM:615471
HP:0430000	Abnormal frontal bone morphology	1139	CHRNA7	ORPHA:199318
HP:0430000	Abnormal frontal bone morphology	5728	PTEN	OMIM:605309
HP:0430000	Abnormal frontal bone morphology	5728	PTEN	ORPHA:210548
HP:0430000	Abnormal frontal bone morphology	5728	PTEN	ORPHA:109
HP:0430000	Abnormal frontal bone morphology	5728	PTEN	ORPHA:79076
HP:0430000	Abnormal frontal bone morphology	83932	SPRTN	OMIM:616200
HP:0430000	Abnormal frontal bone morphology	1763	DNA2	OMIM:620819
HP:0430000	Abnormal frontal bone morphology	3265	HRAS	ORPHA:2612
HP:0430000	Abnormal frontal bone morphology	3845	KRAS	ORPHA:2612
HP:0430000	Abnormal frontal bone morphology	3845	KRAS	ORPHA:1340
HP:0430000	Abnormal frontal bone morphology	3845	KRAS	OMIM:609942
HP:0430000	Abnormal frontal bone morphology	4893	NRAS	ORPHA:2612
HP:0430000	Abnormal frontal bone morphology	7291	TWIST1	OMIM:123100
HP:0430000	Abnormal frontal bone morphology	7291	TWIST1	ORPHA:35093
HP:0430000	Abnormal frontal bone morphology	1947	EFNB1	ORPHA:1520
HP:0430000	Abnormal frontal bone morphology	1947	EFNB1	OMIM:304110
HP:0430000	Abnormal frontal bone morphology	9820	CUL7	ORPHA:2616
HP:0430000	Abnormal frontal bone morphology	9820	CUL7	OMIM:273750
HP:0430000	Abnormal frontal bone morphology	23363	OBSL1	ORPHA:2616
HP:0430000	Abnormal frontal bone morphology	23363	OBSL1	OMIM:612921
HP:0430000	Abnormal frontal bone morphology	83987	CCDC8	ORPHA:2616
HP:0430000	Abnormal frontal bone morphology	83987	CCDC8	OMIM:614205
HP:0430000	Abnormal frontal bone morphology	7360	UGP2	OMIM:618744
HP:0430000	Abnormal frontal bone morphology	5927	KDM5A	OMIM:620820
HP:0430000	Abnormal frontal bone morphology	79848	CSPP1	ORPHA:397715
HP:0430000	Abnormal frontal bone morphology	9786	KIAA0586	ORPHA:397715
HP:0430000	Abnormal frontal bone morphology	267010	RNU12	OMIM:603116
HP:0430000	Abnormal frontal bone morphology	267010	RNU12	ORPHA:85199
HP:0430000	Abnormal frontal bone morphology	9578	CDC42BPB	OMIM:619841
HP:0430000	Abnormal frontal bone morphology	3020	H3-3A	OMIM:619720
HP:0430000	Abnormal frontal bone morphology	2737	GLI3	ORPHA:380
HP:0430000	Abnormal frontal bone morphology	2737	GLI3	OMIM:175700
HP:0430000	Abnormal frontal bone morphology	3021	H3-3B	OMIM:619721
HP:0430000	Abnormal frontal bone morphology	220296	HEPACAM	ORPHA:210548
HP:0430000	Abnormal frontal bone morphology	51741	WWOX	OMIM:616211
HP:0430000	Abnormal frontal bone morphology	1855	DVL1	OMIM:616331
HP:0430000	Abnormal frontal bone morphology	1855	DVL1	OMIM:180700
HP:0430000	Abnormal frontal bone morphology	1855	DVL1	ORPHA:3107
HP:0430000	Abnormal frontal bone morphology	8942	KYNU	OMIM:617661
HP:0430000	Abnormal frontal bone morphology	55790	CSGALNACT1	OMIM:618870
HP:0430000	Abnormal frontal bone morphology	5830	PEX5	OMIM:202370
HP:0430000	Abnormal frontal bone morphology	2201	FBN2	OMIM:121050
HP:0430000	Abnormal frontal bone morphology	4286	MITF	OMIM:617306
HP:0430000	Abnormal frontal bone morphology	120227	CYP2R1	OMIM:600081
HP:0430000	Abnormal frontal bone morphology	120227	CYP2R1	ORPHA:289157
HP:0430000	Abnormal frontal bone morphology	57539	WDR35	ORPHA:1515
HP:0430000	Abnormal frontal bone morphology	57539	WDR35	OMIM:613610
HP:0430000	Abnormal frontal bone morphology	57539	WDR35	ORPHA:93271
HP:0430000	Abnormal frontal bone morphology	112752	IFT43	ORPHA:1515
HP:0430000	Abnormal frontal bone morphology	112752	IFT43	OMIM:614099
HP:0430000	Abnormal frontal bone morphology	51098	IFT52	ORPHA:1515
HP:0430000	Abnormal frontal bone morphology	55764	IFT122	ORPHA:1515
HP:0430000	Abnormal frontal bone morphology	55764	IFT122	OMIM:218330
HP:0430000	Abnormal frontal bone morphology	57728	WDR19	ORPHA:1515
HP:0430000	Abnormal frontal bone morphology	57728	WDR19	OMIM:614378
HP:0430000	Abnormal frontal bone morphology	57231	SNX14	ORPHA:397709
HP:0430000	Abnormal frontal bone morphology	50964	SOST	ORPHA:1513
HP:0430000	Abnormal frontal bone morphology	50964	SOST	OMIM:269500
HP:0430000	Abnormal frontal bone morphology	121340	SP7	ORPHA:1513
HP:0430000	Abnormal frontal bone morphology	6660	SOX5	ORPHA:313892
HP:0430000	Abnormal frontal bone morphology	6660	SOX5	OMIM:616803
HP:0430000	Abnormal frontal bone morphology	1896	EDA	OMIM:305100
HP:0430000	Abnormal frontal bone morphology	1896	EDA	ORPHA:181
HP:0430000	Abnormal frontal bone morphology	54	ACP5	OMIM:607944
HP:0430000	Abnormal frontal bone morphology	1513	CTSK	OMIM:265800
HP:0430000	Abnormal frontal bone morphology	1513	CTSK	ORPHA:763
HP:0430000	Abnormal frontal bone morphology	2261	FGFR3	OMIM:146000
HP:0430000	Abnormal frontal bone morphology	2261	FGFR3	ORPHA:1860
HP:0430000	Abnormal frontal bone morphology	2261	FGFR3	OMIM:616482
HP:0430000	Abnormal frontal bone morphology	2261	FGFR3	ORPHA:15
HP:0430000	Abnormal frontal bone morphology	2261	FGFR3	ORPHA:93274
HP:0430000	Abnormal frontal bone morphology	2261	FGFR3	ORPHA:93262
HP:0430000	Abnormal frontal bone morphology	2261	FGFR3	OMIM:100800
HP:0430000	Abnormal frontal bone morphology	2261	FGFR3	OMIM:187601
HP:0430000	Abnormal frontal bone morphology	2261	FGFR3	OMIM:187600
HP:0430000	Abnormal frontal bone morphology	64359	NXN	OMIM:618529
HP:0430000	Abnormal frontal bone morphology	64359	NXN	ORPHA:1507
HP:0430000	Abnormal frontal bone morphology	56172	ANKH	OMIM:123000
HP:0430000	Abnormal frontal bone morphology	4920	ROR2	ORPHA:1507
HP:0430000	Abnormal frontal bone morphology	4920	ROR2	OMIM:268310
HP:0430000	Abnormal frontal bone morphology	5191	PEX7	OMIM:215100
HP:0430000	Abnormal frontal bone morphology	2035	EPB41	ORPHA:288
HP:0430000	Abnormal frontal bone morphology	2995	GYPC	ORPHA:288
HP:0430000	Abnormal frontal bone morphology	6710	SPTB	ORPHA:288
HP:0430000	Abnormal frontal bone morphology	6708	SPTA1	ORPHA:288
HP:0430000	Abnormal frontal bone morphology	10484	SEC23A	OMIM:607812
HP:0430000	Abnormal frontal bone morphology	10484	SEC23A	ORPHA:50814
HP:0430000	Abnormal frontal bone morphology	1105	CHD1	OMIM:617682
HP:0430000	Abnormal frontal bone morphology	1105	CHD1	ORPHA:529965
HP:0430000	Abnormal frontal bone morphology	10815	CPLX1	ORPHA:280
HP:0430000	Abnormal frontal bone morphology	54872	PIGG	ORPHA:280
HP:0430000	Abnormal frontal bone morphology	7469	NELFA	ORPHA:280
HP:0430000	Abnormal frontal bone morphology	1487	CTBP1	ORPHA:280
HP:0430000	Abnormal frontal bone morphology	1487	CTBP1	OMIM:617915
HP:0430000	Abnormal frontal bone morphology	3954	LETM1	ORPHA:280
HP:0430000	Abnormal frontal bone morphology	7468	NSD2	ORPHA:280
HP:0430000	Abnormal frontal bone morphology	84504	NKX6-2	OMIM:617560
HP:0430000	Abnormal frontal bone morphology	1656	DDX6	OMIM:618653
HP:0430000	Abnormal frontal bone morphology	1594	CYP27B1	OMIM:264700
HP:0430000	Abnormal frontal bone morphology	1594	CYP27B1	ORPHA:289157
HP:0430000	Abnormal frontal bone morphology	1301	COL11A1	OMIM:228520
HP:0430000	Abnormal frontal bone morphology	1301	COL11A1	ORPHA:440354
HP:0430000	Abnormal frontal bone morphology	1301	COL11A1	ORPHA:560
HP:0430000	Abnormal frontal bone morphology	80776	B9D2	OMIM:614175
HP:0430000	Abnormal frontal bone morphology	5813	PURA	ORPHA:438216
HP:0430000	Abnormal frontal bone morphology	2783	GNB2	OMIM:619503
HP:0430000	Abnormal frontal bone morphology	6602	SMARCD1	OMIM:618779
HP:0430000	Abnormal frontal bone morphology	55623	THUMPD1	OMIM:619989
HP:0430000	Abnormal frontal bone morphology	26038	CHD5	OMIM:619873
HP:0430000	Abnormal frontal bone morphology	5034	P4HB	OMIM:112240
HP:0430000	Abnormal frontal bone morphology	5034	P4HB	ORPHA:2050
HP:0430000	Abnormal frontal bone morphology	1182	CLCN3	OMIM:619512
HP:0430000	Abnormal frontal bone morphology	3043	HBB	ORPHA:231214
HP:0430000	Abnormal frontal bone morphology	3043	HBB	ORPHA:231226
HP:0430000	Abnormal frontal bone morphology	6905	TBCE	OMIM:241410
HP:0430000	Abnormal frontal bone morphology	3590	IL11RA	OMIM:614188
HP:0430000	Abnormal frontal bone morphology	142680	SLC34A3	OMIM:241530
HP:0430000	Abnormal frontal bone morphology	57167	SALL4	OMIM:147750
HP:0430000	Abnormal frontal bone morphology	5048	PAFAH1B1	ORPHA:217385
HP:0430000	Abnormal frontal bone morphology	7531	YWHAE	ORPHA:217385
HP:0430000	Abnormal frontal bone morphology	3481	IGF2	OMIM:616489
HP:0430000	Abnormal frontal bone morphology	3481	IGF2	OMIM:180860
HP:0430000	Abnormal frontal bone morphology	3481	IGF2	ORPHA:397590
HP:0430000	Abnormal frontal bone morphology	9681	DEPDC5	OMIM:620504
HP:0430000	Abnormal frontal bone morphology	92609	TIMM50	OMIM:617698
HP:0430000	Abnormal frontal bone morphology	3098	HK1	OMIM:618547
HP:0430000	Abnormal frontal bone morphology	5590	PRKCZ	ORPHA:1606
HP:0430000	Abnormal frontal bone morphology	2563	GABRD	ORPHA:1606
HP:0430000	Abnormal frontal bone morphology	23013	SPEN	ORPHA:1606
HP:0430000	Abnormal frontal bone morphology	23013	SPEN	OMIM:619312
HP:0430000	Abnormal frontal bone morphology	8510	MMP23B	ORPHA:1606
HP:0430000	Abnormal frontal bone morphology	7798	LUZP1	ORPHA:1606
HP:0430000	Abnormal frontal bone morphology	6497	SKI	ORPHA:1606
HP:0430000	Abnormal frontal bone morphology	6497	SKI	ORPHA:2462
HP:0430000	Abnormal frontal bone morphology	6497	SKI	OMIM:182212
HP:0430000	Abnormal frontal bone morphology	10630	PDPN	ORPHA:1606
HP:0430000	Abnormal frontal bone morphology	3339	HSPG2	ORPHA:1606
HP:0430000	Abnormal frontal bone morphology	10277	UBE4B	ORPHA:1606
HP:0430000	Abnormal frontal bone morphology	8514	KCNAB2	ORPHA:1606
HP:0430000	Abnormal frontal bone morphology	473	RERE	ORPHA:1606
HP:0430000	Abnormal frontal bone morphology	473	RERE	ORPHA:494344
HP:0430000	Abnormal frontal bone morphology	473	RERE	OMIM:616975
HP:0430000	Abnormal frontal bone morphology	63976	PRDM16	ORPHA:1606
HP:0430000	Abnormal frontal bone morphology	54897	CASZ1	ORPHA:1606
HP:0430000	Abnormal frontal bone morphology	5727	PTCH1	OMIM:610828
HP:0430000	Abnormal frontal bone morphology	5727	PTCH1	ORPHA:377
HP:0430000	Abnormal frontal bone morphology	5727	PTCH1	OMIM:109400
HP:0430000	Abnormal frontal bone morphology	79796	ALG9	ORPHA:79328
HP:0430000	Abnormal frontal bone morphology	79796	ALG9	OMIM:608776
HP:0430000	Abnormal frontal bone morphology	8314	BAP1	OMIM:619762
HP:0430000	Abnormal frontal bone morphology	83479	DDX59	ORPHA:2919
HP:0430000	Abnormal frontal bone morphology	83479	DDX59	OMIM:174300
HP:0430000	Abnormal frontal bone morphology	6942	TCF20	OMIM:618430
HP:0430000	Abnormal frontal bone morphology	9968	MED12	OMIM:305450
HP:0430000	Abnormal frontal bone morphology	9968	MED12	OMIM:309520
HP:0430000	Abnormal frontal bone morphology	2316	FLNA	OMIM:304120
HP:0430000	Abnormal frontal bone morphology	2316	FLNA	ORPHA:2484
HP:0430000	Abnormal frontal bone morphology	2316	FLNA	OMIM:311300
HP:0430000	Abnormal frontal bone morphology	2271	FH	OMIM:606812
HP:0430000	Abnormal frontal bone morphology	4488	MSX2	OMIM:604757
HP:0430000	Abnormal frontal bone morphology	8643	PTCH2	ORPHA:377
HP:0430000	Abnormal frontal bone morphology	51684	SUFU	ORPHA:377
HP:0430000	Abnormal frontal bone morphology	51684	SUFU	OMIM:620343
HP:0430000	Abnormal frontal bone morphology	51684	SUFU	OMIM:617757
HP:0430000	Abnormal frontal bone morphology	23556	PIGN	OMIM:614080
HP:0430000	Abnormal frontal bone morphology	23007	PLCH1	OMIM:619895
HP:0430000	Abnormal frontal bone morphology	249	ALPL	OMIM:241510
HP:0430000	Abnormal frontal bone morphology	79989	IFT56	OMIM:619534
HP:0430000	Abnormal frontal bone morphology	84168	ANTXR1	OMIM:230740
HP:0430000	Abnormal frontal bone morphology	84168	ANTXR1	ORPHA:2067
HP:0430000	Abnormal frontal bone morphology	2260	FGFR1	OMIM:166250
HP:0430000	Abnormal frontal bone morphology	7994	KAT6A	OMIM:616268
HP:0430000	Abnormal frontal bone morphology	2720	GLB1	OMIM:230500
HP:0430000	Abnormal frontal bone morphology	2720	GLB1	ORPHA:79255
HP:0430000	Abnormal frontal bone morphology	3930	LBR	OMIM:169400
HP:0430000	Abnormal frontal bone morphology	3930	LBR	OMIM:618019
HP:0430000	Abnormal frontal bone morphology	1107	CHD3	OMIM:618205
HP:0430000	Abnormal frontal bone morphology	2317	FLNB	OMIM:272460
HP:0430000	Abnormal frontal bone morphology	2317	FLNB	OMIM:108721
HP:0430000	Abnormal frontal bone morphology	2317	FLNB	OMIM:108720
HP:0430000	Abnormal frontal bone morphology	2317	FLNB	OMIM:150250
HP:0430000	Abnormal frontal bone morphology	1749	DLX5	OMIM:220600
HP:0430000	Abnormal frontal bone morphology	27077	B9D1	OMIM:617120
HP:0430000	Abnormal frontal bone morphology	9742	IFT140	OMIM:266920
HP:0430000	Abnormal frontal bone morphology	60529	ALX4	ORPHA:228390
HP:0430000	Abnormal frontal bone morphology	60529	ALX4	ORPHA:35093
HP:0430000	Abnormal frontal bone morphology	26173	INTS1	OMIM:618571
HP:0430000	Abnormal frontal bone morphology	1523	CUX1	OMIM:618330
HP:0430000	Abnormal frontal bone morphology	5587	PRKD1	OMIM:617364
HP:0430000	Abnormal frontal bone morphology	5426	POLE	OMIM:618336
HP:0430000	Abnormal frontal bone morphology	5426	POLE	ORPHA:85173
HP:0430000	Abnormal frontal bone morphology	2263	FGFR2	OMIM:101200
HP:0430000	Abnormal frontal bone morphology	2263	FGFR2	OMIM:123500
HP:0430000	Abnormal frontal bone morphology	2263	FGFR2	ORPHA:207
HP:0430000	Abnormal frontal bone morphology	2263	FGFR2	ORPHA:87
HP:0430000	Abnormal frontal bone morphology	2263	FGFR2	OMIM:207410
HP:0430000	Abnormal frontal bone morphology	2263	FGFR2	ORPHA:1540
HP:0430000	Abnormal frontal bone morphology	7227	TRPS1	ORPHA:77258
HP:0430000	Abnormal frontal bone morphology	4921	DDR2	OMIM:271665
HP:0430000	Abnormal frontal bone morphology	8925	HERC1	OMIM:617011
HP:0430000	Abnormal frontal bone morphology	54892	NCAPG2	OMIM:618460
HP:0430000	Abnormal frontal bone morphology	23314	SATB2	ORPHA:251028
HP:0430000	Abnormal frontal bone morphology	23314	SATB2	OMIM:612313
HP:0430000	Abnormal frontal bone morphology	51259	TMEM216	OMIM:608091
HP:0430000	Abnormal frontal bone morphology	51259	TMEM216	ORPHA:2754
HP:0430000	Abnormal frontal bone morphology	253738	EBF3	ORPHA:96148
HP:0430000	Abnormal frontal bone morphology	90459	ERI1	OMIM:620663
HP:0430000	Abnormal frontal bone morphology	1277	COL1A1	OMIM:259420
HP:0430000	Abnormal frontal bone morphology	1278	COL1A2	OMIM:259420
HP:0430000	Abnormal frontal bone morphology	7707	ZNF148	OMIM:617260
HP:0430000	Abnormal frontal bone morphology	29887	SNX10	OMIM:615085
HP:0430000	Abnormal frontal bone morphology	5515	PPP2CA	OMIM:618354
HP:0430000	Abnormal frontal bone morphology	1747	DLX3	OMIM:190320
HP:0430000	Abnormal frontal bone morphology	1747	DLX3	ORPHA:3352
HP:0430000	Abnormal frontal bone morphology	9871	SEC24D	OMIM:616294
HP:0430000	Abnormal frontal bone morphology	9871	SEC24D	ORPHA:2050
HP:0430000	Abnormal frontal bone morphology	29998	BICRA	OMIM:619325
HP:0430000	Abnormal frontal bone morphology	6651	SON	OMIM:617140
HP:0430000	Abnormal frontal bone morphology	6651	SON	ORPHA:500150
HP:0430000	Abnormal frontal bone morphology	8312	AXIN1	OMIM:620558
HP:0430000	Abnormal frontal bone morphology	4952	OCRL	ORPHA:534
HP:0430000	Abnormal frontal bone morphology	2710	GK	OMIM:307030
HP:0430000	Abnormal frontal bone morphology	9126	SMC3	OMIM:610759
HP:0430000	Abnormal frontal bone morphology	55777	MBD5	OMIM:156200
HP:0430000	Abnormal frontal bone morphology	4784	NFIX	OMIM:602535
HP:0430000	Abnormal frontal bone morphology	4784	NFIX	ORPHA:420179
HP:0430000	Abnormal frontal bone morphology	3039	HBA1	ORPHA:98791
HP:0430000	Abnormal frontal bone morphology	3040	HBA2	ORPHA:98791
HP:0430000	Abnormal frontal bone morphology	4998	ORC1	OMIM:224690
HP:0430000	Abnormal frontal bone morphology	4125	MAN2B1	OMIM:248500
HP:0430000	Abnormal frontal bone morphology	54496	PRMT7	OMIM:617157
HP:0430000	Abnormal frontal bone morphology	10082	GPC6	OMIM:258315
HP:0430000	Abnormal frontal bone morphology	10082	GPC6	ORPHA:93329
HP:0430000	Abnormal frontal bone morphology	5831	PYCR1	OMIM:612940
HP:0430000	Abnormal frontal bone morphology	2077	ERF	ORPHA:207
HP:0430000	Abnormal frontal bone morphology	2077	ERF	ORPHA:35093
HP:0430000	Abnormal frontal bone morphology	116442	RAB39B	OMIM:311510
HP:0430000	Abnormal frontal bone morphology	116442	RAB39B	ORPHA:2379
HP:0430000	Abnormal frontal bone morphology	7703	PCGF2	OMIM:618371
HP:0430000	Abnormal frontal bone morphology	23258	DENND5A	OMIM:617281
HP:0430000	Abnormal frontal bone morphology	9496	TBX4	ORPHA:261279
HP:0430000	Abnormal frontal bone morphology	8091	HMGA2	ORPHA:94063
HP:0430000	Abnormal frontal bone morphology	8091	HMGA2	ORPHA:397590
HP:0430000	Abnormal frontal bone morphology	23592	LEMD3	ORPHA:94063
HP:0430000	Abnormal frontal bone morphology	10013	HDAC6	OMIM:300863
HP:0430000	Abnormal frontal bone morphology	10013	HDAC6	ORPHA:163966
HP:0430000	Abnormal frontal bone morphology	633	BGN	OMIM:300989
HP:0430000	Abnormal frontal bone morphology	164	AP1G1	OMIM:619467
HP:0430000	Abnormal frontal bone morphology	3977	LIFR	OMIM:601559
HP:0430000	Abnormal frontal bone morphology	26040	SETBP1	OMIM:616078
HP:0430000	Abnormal frontal bone morphology	26040	SETBP1	ORPHA:798
HP:0430000	Abnormal frontal bone morphology	5144	PDE4D	ORPHA:439822
HP:0430000	Abnormal frontal bone morphology	5144	PDE4D	ORPHA:950
HP:0430000	Abnormal frontal bone morphology	2475	MTOR	ORPHA:457485
HP:0430000	Abnormal frontal bone morphology	2475	MTOR	OMIM:616638
HP:0430000	Abnormal frontal bone morphology	23384	SPECC1L	OMIM:145420
HP:0430000	Abnormal frontal bone morphology	4990	SIX6	OMIM:206900
HP:0430000	Abnormal frontal bone morphology	6657	SOX2	OMIM:206900
HP:0430000	Abnormal frontal bone morphology	64864	RFX7	OMIM:620330
HP:0430000	Abnormal frontal bone morphology	9321	TRIP11	ORPHA:166272
HP:0430000	Abnormal frontal bone morphology	9321	TRIP11	ORPHA:93299
HP:0430000	Abnormal frontal bone morphology	9791	PTDSS1	OMIM:151050
HP:0430000	Abnormal frontal bone morphology	4882	NPR2	OMIM:602875
HP:0430000	Abnormal frontal bone morphology	4882	NPR2	ORPHA:40
HP:0430000	Abnormal frontal bone morphology	9851	KIAA0753	OMIM:619476
HP:0430000	Abnormal frontal bone morphology	9851	KIAA0753	OMIM:619479
HP:0430000	Abnormal frontal bone morphology	9851	KIAA0753	ORPHA:2754
HP:0430000	Abnormal frontal bone morphology	57498	KIDINS220	OMIM:617296
HP:0430000	Abnormal frontal bone morphology	10526	IPO8	OMIM:619472
HP:0430000	Abnormal frontal bone morphology	145173	B3GLCT	OMIM:261540
HP:0430000	Abnormal frontal bone morphology	145173	B3GLCT	ORPHA:709
HP:0430000	Abnormal frontal bone morphology	2033	EP300	OMIM:180849
HP:0430000	Abnormal frontal bone morphology	1387	CREBBP	OMIM:180849
HP:0430000	Abnormal frontal bone morphology	79005	SCNM1	OMIM:620107
HP:0430000	Abnormal frontal bone morphology	10283	CWC27	OMIM:250410
HP:0430000	Abnormal frontal bone morphology	10283	CWC27	ORPHA:166035
HP:0430000	Abnormal frontal bone morphology	4796	TONSL	OMIM:271510
HP:0430000	Abnormal frontal bone morphology	4796	TONSL	ORPHA:93357
HP:0430000	Abnormal frontal bone morphology	526	ATP6V1B2	ORPHA:79500
HP:0430000	Abnormal frontal bone morphology	57465	TBC1D24	ORPHA:79500
HP:0430000	Abnormal frontal bone morphology	11198	SUPT16H	OMIM:619480
HP:0430000	Abnormal frontal bone morphology	2887	GRB10	ORPHA:96182
HP:0430000	Abnormal frontal bone morphology	84172	POLR1B	ORPHA:861
HP:0430000	Abnormal frontal bone morphology	9533	POLR1C	ORPHA:861
HP:0430000	Abnormal frontal bone morphology	51082	POLR1D	ORPHA:861
HP:0430000	Abnormal frontal bone morphology	6949	TCOF1	ORPHA:861
HP:0430000	Abnormal frontal bone morphology	23405	DICER1	OMIM:618272
HP:0430000	Abnormal frontal bone morphology	55210	ATAD3A	OMIM:617183
HP:0430000	Abnormal frontal bone morphology	1298	COL9A2	OMIM:600204
HP:0430000	Abnormal frontal bone morphology	3636	INPPL1	OMIM:258480
HP:0430000	Abnormal frontal bone morphology	3636	INPPL1	ORPHA:2746
HP:0430000	Abnormal frontal bone morphology	4841	NONO	OMIM:300967
HP:0430000	Abnormal frontal bone morphology	4841	NONO	ORPHA:466791
HP:0430000	Abnormal frontal bone morphology	8567	MADD	OMIM:619005
HP:0430000	Abnormal frontal bone morphology	5058	PAK1	OMIM:618158
HP:0430000	Abnormal frontal bone morphology	10651	MTX2	OMIM:619127
HP:0430000	Abnormal frontal bone morphology	29123	ANKRD11	ORPHA:261250
HP:0430000	Abnormal frontal bone morphology	25839	COG4	ORPHA:85172
HP:0430000	Abnormal frontal bone morphology	64093	SMOC1	OMIM:206920
HP:0430000	Abnormal frontal bone morphology	64093	SMOC1	ORPHA:1106
HP:0430000	Abnormal frontal bone morphology	1028	CDKN1C	ORPHA:85173
HP:0430000	Abnormal frontal bone morphology	1028	CDKN1C	ORPHA:397590
HP:0430000	Abnormal frontal bone morphology	2799	GNS	OMIM:252940
HP:0430000	Abnormal frontal bone morphology	6329	SCN4A	OMIM:620351
HP:0430000	Abnormal frontal bone morphology	6329	SCN4A	OMIM:620369
HP:0430000	Abnormal frontal bone morphology	55599	RNPC3	OMIM:618160
HP:0430000	Abnormal frontal bone morphology	23387	SIK3	OMIM:618162
HP:0430000	Abnormal frontal bone morphology	6904	TBCD	OMIM:617193
HP:0430000	Abnormal frontal bone morphology	5528	PPP2R5D	ORPHA:457279
HP:0430000	Abnormal frontal bone morphology	1984	EIF5A	OMIM:619376
HP:0430000	Abnormal frontal bone morphology	89970	RSPRY1	ORPHA:457395
HP:0430000	Abnormal frontal bone morphology	89970	RSPRY1	OMIM:616723
HP:0430000	Abnormal frontal bone morphology	9487	PIGL	OMIM:280000
HP:0430000	Abnormal frontal bone morphology	8481	OFD1	OMIM:300804
HP:0430000	Abnormal frontal bone morphology	8481	OFD1	OMIM:311200
HP:0430000	Abnormal frontal bone morphology	8481	OFD1	ORPHA:2750
HP:0430000	Abnormal frontal bone morphology	8481	OFD1	ORPHA:2754
HP:0430000	Abnormal frontal bone morphology	5557	PRIM1	OMIM:620005
HP:0430000	Abnormal frontal bone morphology	3295	HSD17B4	OMIM:261515
HP:0430000	Abnormal frontal bone morphology	83737	ITCH	ORPHA:228426
HP:0430000	Abnormal frontal bone morphology	83737	ITCH	OMIM:613385
HP:0430000	Abnormal frontal bone morphology	7474	WNT5A	OMIM:180700
HP:0430000	Abnormal frontal bone morphology	7474	WNT5A	ORPHA:3107
HP:0430000	Abnormal frontal bone morphology	9897	WASHC5	ORPHA:7
HP:0430000	Abnormal frontal bone morphology	28952	CCDC22	ORPHA:7
HP:0430000	Abnormal frontal bone morphology	57020	VPS35L	ORPHA:7
HP:0430000	Abnormal frontal bone morphology	56896	DPYSL5	ORPHA:7
HP:0430000	Abnormal frontal bone morphology	6913	TBX15	OMIM:260660
HP:0430000	Abnormal frontal bone morphology	6913	TBX15	ORPHA:93333
HP:0430000	Abnormal frontal bone morphology	55181	SMG8	OMIM:619268
HP:0430000	Abnormal frontal bone morphology	27161	AGO2	OMIM:619149
HP:0430000	Abnormal frontal bone morphology	284361	EMC10	OMIM:619264
HP:0430000	Abnormal frontal bone morphology	4067	LYN	OMIM:620376
HP:0430000	Abnormal frontal bone morphology	283450	HECTD4	OMIM:620250
HP:0430000	Abnormal frontal bone morphology	374654	KIF7	ORPHA:166024
HP:0430000	Abnormal frontal bone morphology	374654	KIF7	OMIM:200990
HP:0430000	Abnormal frontal bone morphology	374654	KIF7	OMIM:607131
HP:0430000	Abnormal frontal bone morphology	374654	KIF7	ORPHA:2754
HP:0430000	Abnormal frontal bone morphology	5573	PRKAR1A	ORPHA:950
HP:0430000	Abnormal frontal bone morphology	7421	VDR	ORPHA:93160
HP:0430000	Abnormal frontal bone morphology	7421	VDR	OMIM:277440
HP:0430000	Abnormal frontal bone morphology	10491	CRTAP	ORPHA:2050
HP:0430000	Abnormal frontal bone morphology	55503	TRPV6	OMIM:618188
HP:0430000	Abnormal frontal bone morphology	10312	TCIRG1	OMIM:259700
HP:0430000	Abnormal frontal bone morphology	775	CACNA1C	OMIM:620029
HP:0430000	Abnormal frontal bone morphology	5447	POR	ORPHA:95699
HP:0430000	Abnormal frontal bone morphology	5447	POR	OMIM:201750
HP:0430000	Abnormal frontal bone morphology	5447	POR	OMIM:207410
HP:0430000	Abnormal frontal bone morphology	9401	RECQL4	OMIM:268400
HP:0430000	Abnormal frontal bone morphology	9401	RECQL4	ORPHA:1225
HP:0430000	Abnormal frontal bone morphology	4983	OPHN1	OMIM:300486
HP:0430000	Abnormal frontal bone morphology	4774	NFIA	ORPHA:401986
HP:0430000	Abnormal frontal bone morphology	55112	DYNC2I1	ORPHA:93271
HP:0430000	Abnormal frontal bone morphology	57560	IFT80	ORPHA:93271
HP:0430000	Abnormal frontal bone morphology	79659	DYNC2H1	ORPHA:93271
HP:0430000	Abnormal frontal bone morphology	89891	DYNC2I2	ORPHA:93271
HP:0430000	Abnormal frontal bone morphology	4281	MID1	OMIM:300000
HP:0430000	Abnormal frontal bone morphology	9442	MED27	OMIM:619286
HP:0430000	Abnormal frontal bone morphology	2314	FLII	ORPHA:819
HP:0430000	Abnormal frontal bone morphology	23096	IQSEC2	ORPHA:819
HP:0430000	Abnormal frontal bone morphology	10743	RAI1	ORPHA:819
HP:0430000	Abnormal frontal bone morphology	10522	DEAF1	ORPHA:819
HP:0430000	Abnormal frontal bone morphology	10522	DEAF1	OMIM:615828
HP:0430000	Abnormal frontal bone morphology	6662	SOX9	OMIM:114290
HP:0430000	Abnormal frontal bone morphology	5744	PTHLH	ORPHA:93387
HP:0430000	Abnormal frontal bone morphology	3239	HOXD13	ORPHA:93387
HP:0430000	Abnormal frontal bone morphology	4758	NEU1	ORPHA:812
HP:0430000	Abnormal frontal bone morphology	150468	CKAP2L	ORPHA:3255
HP:0430000	Abnormal frontal bone morphology	4038	LRP4	ORPHA:3258
HP:0430000	Abnormal frontal bone morphology	4038	LRP4	OMIM:614305
HP:0430000	Abnormal frontal bone morphology	324	APC	ORPHA:3258
HP:0430000	Abnormal frontal bone morphology	6595	SMARCA2	OMIM:619293
HP:0430000	Abnormal frontal bone morphology	51360	MBTPS2	ORPHA:2273
HP:0430000	Abnormal frontal bone morphology	57492	ARID1B	OMIM:135900
HP:0430000	Abnormal frontal bone morphology	64324	NSD1	OMIM:117550
HP:0430000	Abnormal frontal bone morphology	80204	FBXO11	OMIM:618089
HP:0430000	Abnormal frontal bone morphology	10908	PNPLA6	ORPHA:3363
HP:0430000	Abnormal frontal bone morphology	672	BRCA1	ORPHA:84
HP:0430000	Abnormal frontal bone morphology	10459	MAD2L2	ORPHA:84
HP:0430000	Abnormal frontal bone morphology	7516	XRCC2	ORPHA:84
HP:0430000	Abnormal frontal bone morphology	29089	UBE2T	ORPHA:84
HP:0430000	Abnormal frontal bone morphology	675	BRCA2	ORPHA:84
HP:0430000	Abnormal frontal bone morphology	55120	FANCL	ORPHA:84
HP:0430000	Abnormal frontal bone morphology	2177	FANCD2	ORPHA:84
HP:0430000	Abnormal frontal bone morphology	2175	FANCA	ORPHA:84
HP:0430000	Abnormal frontal bone morphology	2187	FANCB	ORPHA:84
HP:0430000	Abnormal frontal bone morphology	2176	FANCC	ORPHA:84
HP:0430000	Abnormal frontal bone morphology	2178	FANCE	ORPHA:84
HP:0430000	Abnormal frontal bone morphology	2188	FANCF	ORPHA:84
HP:0430000	Abnormal frontal bone morphology	2189	FANCG	ORPHA:84
HP:0430000	Abnormal frontal bone morphology	5888	RAD51	ORPHA:84
HP:0430000	Abnormal frontal bone morphology	5889	RAD51C	ORPHA:84
HP:0430000	Abnormal frontal bone morphology	55159	RFWD3	ORPHA:84
HP:0430000	Abnormal frontal bone morphology	83990	BRIP1	ORPHA:84
HP:0430000	Abnormal frontal bone morphology	57697	FANCM	ORPHA:84
HP:0430000	Abnormal frontal bone morphology	79728	PALB2	ORPHA:84
HP:0430000	Abnormal frontal bone morphology	84464	SLX4	ORPHA:84
HP:0430000	Abnormal frontal bone morphology	2072	ERCC4	ORPHA:84
HP:0430000	Abnormal frontal bone morphology	55215	FANCI	ORPHA:84
HP:0430000	Abnormal frontal bone morphology	83550	GPR101	ORPHA:963
HP:0430000	Abnormal frontal bone morphology	9049	AIP	ORPHA:963
HP:0430000	Abnormal frontal bone morphology	9049	AIP	ORPHA:99725
HP:0430000	Abnormal frontal bone morphology	23116	TOGARAM1	OMIM:619185
HP:0430000	Abnormal frontal bone morphology	9377	COX5A	OMIM:619064
HP:0430000	Abnormal frontal bone morphology	9839	ZEB2	ORPHA:261552
HP:0430000	Abnormal frontal bone morphology	1327	COX4I1	OMIM:619060
HP:0430000	Abnormal frontal bone morphology	860	RUNX2	OMIM:119600
HP:0430000	Abnormal frontal bone morphology	860	RUNX2	ORPHA:1452
HP:0430000	Abnormal frontal bone morphology	9184	BUB3	ORPHA:1052
HP:0430000	Abnormal frontal bone morphology	699	BUB1	ORPHA:1052
HP:0430000	Abnormal frontal bone morphology	9702	CEP57	ORPHA:1052
HP:0430000	Abnormal frontal bone morphology	9702	CEP57	OMIM:614114
HP:0430000	Abnormal frontal bone morphology	9319	TRIP13	ORPHA:1052
HP:0430000	Abnormal frontal bone morphology	701	BUB1B	ORPHA:1052
HP:0430000	Abnormal frontal bone morphology	10682	EBP	ORPHA:35173
HP:0430000	Abnormal frontal bone morphology	10682	EBP	OMIM:302960
HP:0430000	Abnormal frontal bone morphology	4591	TRIM37	OMIM:253250
HP:0430000	Abnormal frontal bone morphology	1954	MEGF8	OMIM:614976
HP:0430000	Abnormal frontal bone morphology	4338	MOCS2	OMIM:252160
HP:0430000	Abnormal frontal bone morphology	657	BMPR1A	ORPHA:79076
HP:0430000	Abnormal frontal bone morphology	25942	SIN3A	OMIM:613406
HP:0430000	Abnormal frontal bone morphology	3425	IDUA	OMIM:607014
HP:0430000	Abnormal frontal bone morphology	3425	IDUA	ORPHA:93473
HP:0430000	Abnormal frontal bone morphology	6197	RPS6KA3	ORPHA:276630
HP:0430000	Abnormal frontal bone morphology	6197	RPS6KA3	ORPHA:192
HP:0430000	Abnormal frontal bone morphology	2697	GJA1	OMIM:257850
HP:0430000	Abnormal frontal bone morphology	3192	HNRNPU	ORPHA:238769
HP:0430000	Abnormal frontal bone morphology	5251	PHEX	ORPHA:89936
HP:0430000	Abnormal frontal bone morphology	5251	PHEX	OMIM:307800
HP:0430000	Abnormal frontal bone morphology	1857	DVL3	ORPHA:3107
HP:0430000	Abnormal frontal bone morphology	1857	DVL3	OMIM:616894
HP:0430000	Abnormal frontal bone morphology	2535	FZD2	ORPHA:3107
HP:0430000	Abnormal frontal bone morphology	2535	FZD2	OMIM:164745
HP:0430000	Abnormal frontal bone morphology	2535	FZD2	ORPHA:93328
HP:0430000	Abnormal frontal bone morphology	2332	FMR1	ORPHA:908
HP:0430000	Abnormal frontal bone morphology	5290	PIK3CA	ORPHA:60040
HP:0430000	Abnormal frontal bone morphology	285175	UNC80	OMIM:616801
HP:0430000	Abnormal frontal bone morphology	285175	UNC80	ORPHA:371364
HP:0430000	Abnormal frontal bone morphology	11128	POLR3A	OMIM:264090
HP:0430000	Abnormal frontal bone morphology	11128	POLR3A	ORPHA:3455
HP:0430000	Abnormal frontal bone morphology	23137	SMC5	OMIM:620185
HP:0430000	Abnormal frontal bone morphology	57459	GATAD2B	ORPHA:363686
HP:0430000	Abnormal frontal bone morphology	728294	D2HGDH	OMIM:600721
HP:0430000	Abnormal frontal bone morphology	6774	STAT3	OMIM:147060
HP:0430000	Abnormal frontal bone morphology	5159	PDGFRB	OMIM:601812
HP:0430000	Abnormal frontal bone morphology	5324	PLAG1	ORPHA:397590
HP:0430000	Abnormal frontal bone morphology	182	JAG1	OMIM:118450
HP:0430000	Abnormal frontal bone morphology	3708	ITPR1	OMIM:117360
HP:0430000	Abnormal frontal bone morphology	5832	ALDH18A1	OMIM:219150
HP:0430000	Abnormal frontal bone morphology	4221	MEN1	ORPHA:99725
HP:0430000	Abnormal frontal bone morphology	471	ATIC	OMIM:608688
HP:0430000	Abnormal frontal bone morphology	388015	RTL1	ORPHA:96334
HP:0430000	Abnormal frontal bone morphology	8788	DLK1	ORPHA:96334
HP:0430000	Abnormal frontal bone morphology	55384	MEG3	ORPHA:96334
HP:0430000	Abnormal frontal bone morphology	114548	NLRP3	OMIM:607115
HP:0430000	Abnormal frontal bone morphology	114548	NLRP3	ORPHA:1451
HP:0430000	Abnormal frontal bone morphology	5295	PIK3R1	OMIM:269880
HP:0430000	Abnormal frontal bone morphology	254065	BRWD3	OMIM:300659
HP:0430000	Abnormal frontal bone morphology	9652	SKIC3	OMIM:222470
HP:0430000	Abnormal frontal bone morphology	10661	KLF1	OMIM:613673
HP:0430000	Abnormal frontal bone morphology	26047	CNTNAP2	OMIM:610042
HP:0430000	Abnormal frontal bone morphology	729920	CRPPA	OMIM:614643
HP:0430000	Abnormal frontal bone morphology	1302	COL11A2	OMIM:614524
HP:0430000	Abnormal frontal bone morphology	1836	SLC26A2	ORPHA:93298
HP:0430000	Abnormal frontal bone morphology	4313	MMP2	OMIM:259600
HP:0430000	Abnormal frontal bone morphology	1186	CLCN7	ORPHA:53
HP:0430000	Abnormal frontal bone morphology	91252	SLC39A13	OMIM:612350
HP:0430000	Abnormal frontal bone morphology	2703	GJA8	OMIM:612474
HP:0430000	Abnormal frontal bone morphology	2702	GJA5	OMIM:612474
HP:0430000	Abnormal frontal bone morphology	867	CBL	OMIM:613563
HP:0430000	Abnormal frontal bone morphology	51025	PAM16	OMIM:613320
HP:0430000	Abnormal frontal bone morphology	27152	INTU	OMIM:617925
HP:0430000	Abnormal frontal bone morphology	51053	GMNN	OMIM:616835
HP:0430000	Abnormal frontal bone morphology	2200	FBN1	ORPHA:2462
HP:0430000	Abnormal frontal bone morphology	196528	ARID2	OMIM:617808
HP:0430000	Abnormal frontal bone morphology	8260	NAA10	ORPHA:276432
HP:0430000	Abnormal frontal bone morphology	3720	JARID2	OMIM:620098
HP:0430000	Abnormal frontal bone morphology	84181	CHD6	ORPHA:2108
HP:0430000	Abnormal frontal bone morphology	2245	FGD1	OMIM:305400
HP:0430000	Abnormal frontal bone morphology	132	ADK	OMIM:614300
HP:0430000	Abnormal frontal bone morphology	9759	HDAC4	ORPHA:1001
HP:0430000	Abnormal frontal bone morphology	11133	KPTN	OMIM:615637
HP:0430000	Abnormal frontal bone morphology	11133	KPTN	ORPHA:397612
HP:0430000	Abnormal frontal bone morphology	23028	KDM1A	OMIM:616728
HP:0430000	Abnormal frontal bone morphology	79650	USB1	OMIM:604173
HP:0430000	Abnormal frontal bone morphology	5160	PDHA1	OMIM:312170
HP:0430000	Abnormal frontal bone morphology	4792	NFKBIA	OMIM:612132
HP:0430000	Abnormal frontal bone morphology	2902	GRIN1	OMIM:617820
HP:0430000	Abnormal frontal bone morphology	10735	STAG2	OMIM:301022
HP:0430000	Abnormal frontal bone morphology	5604	MAP2K1	ORPHA:1340
HP:0430000	Abnormal frontal bone morphology	5605	MAP2K2	ORPHA:1340
HP:0430000	Abnormal frontal bone morphology	29940	DSE	OMIM:615539
HP:0430000	Abnormal frontal bone morphology	8517	IKBKG	OMIM:300291
HP:0430000	Abnormal frontal bone morphology	1000	CDH2	OMIM:618929
HP:0430000	Abnormal frontal bone morphology	176	ACAN	OMIM:165800
HP:0430000	Abnormal frontal bone morphology	3758	KCNJ1	OMIM:241200
HP:0430000	Abnormal frontal bone morphology	25	ABL1	OMIM:617602
HP:0430000	Abnormal frontal bone morphology	4041	LRP5	ORPHA:2788
HP:0430000	Abnormal frontal bone morphology	54551	MAGEL2	OMIM:615547
HP:0430000	Abnormal frontal bone morphology	9419	CRIPT	OMIM:615789
HP:0430000	Abnormal frontal bone morphology	139285	AMER1	ORPHA:2780
HP:0430000	Abnormal frontal bone morphology	139285	AMER1	OMIM:300373
HP:0430000	Abnormal frontal bone morphology	55644	OSGEP	OMIM:617729
HP:0430000	Abnormal frontal bone morphology	2313	FLI1	ORPHA:2308
HP:0430000	Abnormal frontal bone morphology	2517	FUCA1	OMIM:230000
HP:0430000	Abnormal frontal bone morphology	7204	TRIO	OMIM:618825
HP:0430000	Abnormal frontal bone morphology	4337	MOCS1	OMIM:252150
HP:0430000	Abnormal frontal bone morphology	51520	LARS1	OMIM:615438
HP:0430000	Abnormal frontal bone morphology	80232	WDR26	OMIM:617616
HP:0430000	Abnormal frontal bone morphology	4329	ALDH6A1	OMIM:614105
HP:0430000	Abnormal frontal bone morphology	259232	NALCN	ORPHA:371364
HP:0430000	Abnormal frontal bone morphology	7040	TGFB1	ORPHA:1328
HP:0430000	Abnormal frontal bone morphology	5293	PIK3CD	ORPHA:221139
HP:0430000	Abnormal frontal bone morphology	90417	KNSTRN	ORPHA:221139
HP:0430000	Abnormal frontal bone morphology	8405	SPOP	OMIM:618829
HP:0430000	Abnormal frontal bone morphology	23545	ATP6V0A2	OMIM:219200
HP:0430000	Abnormal frontal bone morphology	128178	EDARADD	OMIM:224900
HP:0430000	Abnormal frontal bone morphology	10913	EDAR	OMIM:224900
HP:0430000	Abnormal frontal bone morphology	284252	KCTD1	OMIM:181270
HP:0430000	Abnormal frontal bone morphology	60401	EDA2R	ORPHA:181
HP:0430000	Abnormal frontal bone morphology	5500	PPP1CB	OMIM:617506
HP:0430000	Abnormal frontal bone morphology	6519	SLC3A1	ORPHA:163690
HP:0430000	Abnormal frontal bone morphology	6519	SLC3A1	ORPHA:163693
HP:0430000	Abnormal frontal bone morphology	9581	PREPL	ORPHA:163690
HP:0430000	Abnormal frontal bone morphology	9581	PREPL	ORPHA:163693
HP:0430000	Abnormal frontal bone morphology	84628	NTNG2	OMIM:618718
HP:0430000	Abnormal frontal bone morphology	113246	C12orf57	OMIM:218340
HP:0430000	Abnormal frontal bone morphology	5495	PPM1B	ORPHA:163693
HP:0430000	Abnormal frontal bone morphology	79823	CAMKMT	ORPHA:163693
HP:0430000	Abnormal frontal bone morphology	51	ACOX1	OMIM:264470
HP:0430000	Abnormal frontal bone morphology	5296	PIK3R2	OMIM:603387
HP:0430000	Abnormal frontal bone morphology	126792	B3GALT6	ORPHA:536467
HP:0430000	Abnormal frontal bone morphology	126792	B3GALT6	OMIM:615349
HP:0430000	Abnormal frontal bone morphology	23247	KATNIP	OMIM:616784
HP:0430000	Abnormal frontal bone morphology	10020	GNE	OMIM:269921
HP:0430000	Abnormal frontal bone morphology	8777	MPDZ	OMIM:615219
HP:0430000	Abnormal frontal bone morphology	5449	POU1F1	OMIM:613038
HP:0430000	Abnormal frontal bone morphology	23389	MED13L	OMIM:616789
HP:0430000	Abnormal frontal bone morphology	9757	KMT2B	OMIM:619934
HP:0430000	Abnormal frontal bone morphology	79583	TMEM231	ORPHA:2754
HP:0430000	Abnormal frontal bone morphology	10210	TOPORS	ORPHA:2754
HP:0430000	Abnormal frontal bone morphology	26123	TCTN3	ORPHA:2754
HP:0430000	Abnormal frontal bone morphology	5147	PDE6D	ORPHA:2754
HP:0430000	Abnormal frontal bone morphology	65250	CPLANE1	ORPHA:2754
HP:0430000	Abnormal frontal bone morphology	317662	FAM149B1	ORPHA:2754
HP:0430000	Abnormal frontal bone morphology	9469	CHST3	OMIM:245600
HP:0430000	Abnormal frontal bone morphology	26229	B3GAT3	OMIM:245600
HP:0430000	Abnormal frontal bone morphology	1280	COL2A1	OMIM:200610
HP:0430000	Abnormal frontal bone morphology	7543	ZFX	OMIM:301118
HP:0430000	Abnormal frontal bone morphology	2036	EPB41L1	OMIM:614257
HP:0430000	Abnormal frontal bone morphology	10736	SIX2	ORPHA:488437
HP:0430000	Abnormal frontal bone morphology	8398	PLA2G6	OMIM:256600
HP:0430000	Abnormal frontal bone morphology	4524	MTHFR	ORPHA:563612
HP:0430000	Abnormal frontal bone morphology	57216	VANGL2	ORPHA:563612
HP:0430000	Abnormal frontal bone morphology	8092	ALX1	ORPHA:306542
HP:0430000	Abnormal frontal bone morphology	1499	CTNNB1	ORPHA:54595
HP:0430000	Abnormal frontal bone morphology	673	BRAF	ORPHA:54595
HP:0430007	Symblepharon	55612	FERMT1	OMIM:173650
HP:0430007	Symblepharon	3909	LAMA3	OMIM:245660
HP:0430007	Symblepharon	4921	DDR2	OMIM:618175
HP:0430009	Hypoplasia of eyelid	1984	EIF5A	OMIM:619376
HP:0430009	Hypoplasia of eyelid	117581	TWIST2	OMIM:200110
HP:0430009	Hypoplasia of eyelid	8882	ZPR1	OMIM:619321
HP:0033614	Tracheal bronchus	79989	IFT56	OMIM:619534
HP:0430015	Abnormal morphology of musculature of pharynx	5354	PLP1	ORPHA:280210
HP:0430015	Abnormal morphology of musculature of pharynx	9782	MATR3	ORPHA:600
HP:0430015	Abnormal morphology of musculature of pharynx	353116	RILPL1	ORPHA:98897
HP:0430015	Abnormal morphology of musculature of pharynx	10755	GIPC1	ORPHA:98897
HP:0430015	Abnormal morphology of musculature of pharynx	29967	LRP12	ORPHA:98897
HP:0430015	Abnormal morphology of musculature of pharynx	100996717	NOTCH2NLC	ORPHA:98897
HP:0430019	Abnormality of muscle of facial expression	353116	RILPL1	ORPHA:98897
HP:0430019	Abnormality of muscle of facial expression	10755	GIPC1	ORPHA:98897
HP:0430019	Abnormality of muscle of facial expression	29967	LRP12	ORPHA:98897
HP:0430019	Abnormality of muscle of facial expression	100996717	NOTCH2NLC	ORPHA:98897
HP:0033627	Increased urine harderoporphyrin level	1371	CPOX	OMIM:618892
HP:0033628	Bowel irritability	6850	SYK	OMIM:619381
HP:0033628	Bowel irritability	389827	MYMK	OMIM:254940
HP:0430021	Abnormal common carotid artery morphology	6899	TBX1	ORPHA:3384
HP:0430021	Abnormal common carotid artery morphology	137814	NKX2-6	ORPHA:3384
HP:0430021	Abnormal common carotid artery morphology	23129	PLXND1	ORPHA:3384
HP:0430021	Abnormal common carotid artery morphology	59	ACTA2	OMIM:613834
HP:0430021	Abnormal common carotid artery morphology	6651	SON	ORPHA:500150
HP:0430025	Bilateral facial palsy	5339	PLEC	ORPHA:254361
HP:0430025	Bilateral facial palsy	3708	ITPR1	OMIM:117360
HP:0430025	Bilateral facial palsy	23345	SYNE1	ORPHA:319332
HP:0430022	Abnormality of the sphenoid sinus	4125	MAN2B1	ORPHA:309282
HP:0430022	Abnormality of the sphenoid sinus	4763	NF1	ORPHA:363700
HP:0430022	Abnormality of the sphenoid sinus	4763	NF1	ORPHA:97685
HP:0430029	Hyperplasia of the premaxilla	4784	NFIX	OMIM:614753
HP:0430028	Hyperplasia of the maxilla	157570	ESCO2	OMIM:268300
HP:0430028	Hyperplasia of the maxilla	79759	ZNF668	OMIM:620194
HP:0430028	Hyperplasia of the maxilla	6660	SOX5	ORPHA:313892
HP:0430028	Hyperplasia of the maxilla	80232	WDR26	ORPHA:513456
HP:0430028	Hyperplasia of the maxilla	80232	WDR26	OMIM:617616
HP:0430028	Hyperplasia of the maxilla	1173	AP2M1	OMIM:618587
HP:0430028	Hyperplasia of the maxilla	3043	HBB	ORPHA:231226
HP:0430028	Hyperplasia of the maxilla	3043	HBB	ORPHA:231214
HP:0430028	Hyperplasia of the maxilla	27107	ZBTB11	OMIM:618383
HP:0430028	Hyperplasia of the maxilla	55084	SOBP	OMIM:613671
HP:0430028	Hyperplasia of the maxilla	5290	PIK3CA	ORPHA:140944
HP:0430028	Hyperplasia of the maxilla	25942	SIN3A	OMIM:613406
HP:0430028	Hyperplasia of the maxilla	2273	FHL1	OMIM:300280
HP:0000309	Abnormal midface morphology	7528	YY1	ORPHA:506358
HP:0000309	Abnormal midface morphology	7528	YY1	OMIM:617557
HP:0000309	Abnormal midface morphology	11253	MAN1B1	ORPHA:397941
HP:0000309	Abnormal midface morphology	11253	MAN1B1	OMIM:614202
HP:0000309	Abnormal midface morphology	54507	ADAMTSL4	ORPHA:1885
HP:0000309	Abnormal midface morphology	3636	INPPL1	ORPHA:3144
HP:0000309	Abnormal midface morphology	10992	SF3B2	OMIM:164210
HP:0000309	Abnormal midface morphology	118987	PDZD8	OMIM:620021
HP:0000309	Abnormal midface morphology	613	BCR	ORPHA:261330
HP:0000309	Abnormal midface morphology	1399	CRKL	ORPHA:261330
HP:0000309	Abnormal midface morphology	5594	MAPK1	ORPHA:261330
HP:0000309	Abnormal midface morphology	80816	ASXL3	OMIM:615485
HP:0000309	Abnormal midface morphology	1723	DHODH	OMIM:263750
HP:0000309	Abnormal midface morphology	1723	DHODH	ORPHA:246
HP:0000309	Abnormal midface morphology	10084	PQBP1	ORPHA:93946
HP:0000309	Abnormal midface morphology	10084	PQBP1	OMIM:309500
HP:0000309	Abnormal midface morphology	29072	SETD2	OMIM:620157
HP:0000309	Abnormal midface morphology	29072	SETD2	OMIM:620155
HP:0000309	Abnormal midface morphology	29072	SETD2	OMIM:616831
HP:0000309	Abnormal midface morphology	4038	LRP4	ORPHA:3258
HP:0000309	Abnormal midface morphology	4038	LRP4	OMIM:212780
HP:0000309	Abnormal midface morphology	324	APC	ORPHA:3258
HP:0000309	Abnormal midface morphology	7021	TFAP2B	ORPHA:46627
HP:0000309	Abnormal midface morphology	9968	MED12	ORPHA:93932
HP:0000309	Abnormal midface morphology	5426	POLE	OMIM:615139
HP:0000309	Abnormal midface morphology	51109	RDH11	OMIM:616108
HP:0000309	Abnormal midface morphology	51109	RDH11	ORPHA:436245
HP:0000309	Abnormal midface morphology	5191	PEX7	OMIM:215100
HP:0000309	Abnormal midface morphology	7020	TFAP2A	OMIM:113620
HP:0000309	Abnormal midface morphology	55636	CHD7	OMIM:214800
HP:0000309	Abnormal midface morphology	374654	KIF7	OMIM:607131
HP:0000309	Abnormal midface morphology	1789	DNMT3B	OMIM:242860
HP:0000309	Abnormal midface morphology	8558	CDK10	OMIM:617694
HP:0000309	Abnormal midface morphology	4803	NGF	ORPHA:64752
HP:0000309	Abnormal midface morphology	4914	NTRK1	ORPHA:64752
HP:0000309	Abnormal midface morphology	11128	POLR3A	OMIM:264090
HP:0000309	Abnormal midface morphology	11128	POLR3A	ORPHA:3455
HP:0000309	Abnormal midface morphology	157570	ESCO2	ORPHA:3103
HP:0000309	Abnormal midface morphology	157570	ESCO2	OMIM:268300
HP:0000309	Abnormal midface morphology	145258	GSC	OMIM:602471
HP:0000309	Abnormal midface morphology	4849	CNOT3	OMIM:618672
HP:0000309	Abnormal midface morphology	641	BLM	OMIM:210900
HP:0000309	Abnormal midface morphology	641	BLM	ORPHA:125
HP:0000309	Abnormal midface morphology	57492	ARID1B	ORPHA:251056
HP:0000309	Abnormal midface morphology	6231	RPS26	OMIM:613309
HP:0000309	Abnormal midface morphology	3187	HNRNPH1	OMIM:620083
HP:0000309	Abnormal midface morphology	27086	FOXP1	OMIM:613670
HP:0000309	Abnormal midface morphology	4088	SMAD3	OMIM:613795
HP:0000309	Abnormal midface morphology	4088	SMAD3	ORPHA:60030
HP:0000309	Abnormal midface morphology	4088	SMAD3	ORPHA:284984
HP:0000309	Abnormal midface morphology	7048	TGFBR2	OMIM:610168
HP:0000309	Abnormal midface morphology	7048	TGFBR2	ORPHA:60030
HP:0000309	Abnormal midface morphology	51574	LARP7	ORPHA:319671
HP:0000309	Abnormal midface morphology	51574	LARP7	OMIM:615071
HP:0000309	Abnormal midface morphology	147372	CCBE1	OMIM:235510
HP:0000309	Abnormal midface morphology	50945	TBX22	ORPHA:921
HP:0000309	Abnormal midface morphology	8626	TP63	ORPHA:69085
HP:0000309	Abnormal midface morphology	8626	TP63	OMIM:604292
HP:0000309	Abnormal midface morphology	4883	NPR3	OMIM:619543
HP:0000309	Abnormal midface morphology	55212	BBS7	OMIM:615984
HP:0000309	Abnormal midface morphology	2703	GJA8	OMIM:612474
HP:0000309	Abnormal midface morphology	2702	GJA5	OMIM:612474
HP:0000309	Abnormal midface morphology	7046	TGFBR1	ORPHA:60030
HP:0000309	Abnormal midface morphology	7046	TGFBR1	OMIM:609192
HP:0000309	Abnormal midface morphology	10526	IPO8	ORPHA:60030
HP:0000309	Abnormal midface morphology	7042	TGFB2	ORPHA:60030
HP:0000309	Abnormal midface morphology	7042	TGFB2	OMIM:614816
HP:0000309	Abnormal midface morphology	78987	CRELD1	OMIM:620771
HP:0000309	Abnormal midface morphology	84181	CHD6	ORPHA:2108
HP:0000309	Abnormal midface morphology	8925	HERC1	OMIM:617011
HP:0000309	Abnormal midface morphology	8925	HERC1	ORPHA:457359
HP:0000309	Abnormal midface morphology	5193	PEX12	OMIM:266510
HP:0000309	Abnormal midface morphology	89970	RSPRY1	OMIM:616723
HP:0000309	Abnormal midface morphology	89970	RSPRY1	ORPHA:457395
HP:0000309	Abnormal midface morphology	50814	NSDHL	ORPHA:251383
HP:0000309	Abnormal midface morphology	50814	NSDHL	OMIM:300831
HP:0000309	Abnormal midface morphology	128869	PIGU	OMIM:618590
HP:0000309	Abnormal midface morphology	91179	SCARF2	OMIM:600920
HP:0000309	Abnormal midface morphology	4854	NOTCH3	OMIM:130720
HP:0000309	Abnormal midface morphology	4854	NOTCH3	ORPHA:2789
HP:0000309	Abnormal midface morphology	1289	COL5A1	OMIM:619329
HP:0000309	Abnormal midface morphology	4750	NEK1	OMIM:252100
HP:0000309	Abnormal midface morphology	90161	HS6ST2	OMIM:301025
HP:0000309	Abnormal midface morphology	1741	DLG3	OMIM:300850
HP:0000309	Abnormal midface morphology	3039	HBA1	ORPHA:98791
HP:0000309	Abnormal midface morphology	3040	HBA2	ORPHA:98791
HP:0000309	Abnormal midface morphology	4621	MYH3	OMIM:193700
HP:0000309	Abnormal midface morphology	51132	RLIM	OMIM:300978
HP:0000309	Abnormal midface morphology	54496	PRMT7	OMIM:617157
HP:0000309	Abnormal midface morphology	10082	GPC6	OMIM:258315
HP:0000309	Abnormal midface morphology	92344	GORAB	OMIM:231070
HP:0000309	Abnormal midface morphology	92344	GORAB	ORPHA:2078
HP:0000309	Abnormal midface morphology	3759	KCNJ2	OMIM:170390
HP:0000309	Abnormal midface morphology	1312	COMT	ORPHA:567
HP:0000309	Abnormal midface morphology	221037	JMJD1C	ORPHA:567
HP:0000309	Abnormal midface morphology	2812	GP1BB	ORPHA:567
HP:0000309	Abnormal midface morphology	6239	RREB1	ORPHA:567
HP:0000309	Abnormal midface morphology	7290	HIRA	ORPHA:567
HP:0000309	Abnormal midface morphology	9632	SEC24C	ORPHA:567
HP:0000309	Abnormal midface morphology	7353	UFD1	ORPHA:567
HP:0000309	Abnormal midface morphology	421	ARVCF	ORPHA:567
HP:0000309	Abnormal midface morphology	6898	TAT	ORPHA:28378
HP:0000309	Abnormal midface morphology	444	ASPH	OMIM:601552
HP:0000309	Abnormal midface morphology	7703	PCGF2	OMIM:618371
HP:0000309	Abnormal midface morphology	633	BGN	OMIM:300989
HP:0000309	Abnormal midface morphology	5277	PIGA	OMIM:300868
HP:0000309	Abnormal midface morphology	8985	PLOD3	OMIM:612394
HP:0000309	Abnormal midface morphology	64864	RFX7	OMIM:620330
HP:0000309	Abnormal midface morphology	6628	SNRPB	OMIM:117650
HP:0000309	Abnormal midface morphology	2892	GRIA3	ORPHA:364028
HP:0000309	Abnormal midface morphology	51604	PIGT	ORPHA:369837
HP:0000309	Abnormal midface morphology	23630	KCNE5	ORPHA:86818
HP:0000309	Abnormal midface morphology	2182	ACSL4	ORPHA:86818
HP:0000309	Abnormal midface morphology	4841	NONO	OMIM:300967
HP:0000309	Abnormal midface morphology	4841	NONO	ORPHA:466791
HP:0000309	Abnormal midface morphology	25839	COG4	ORPHA:85172
HP:0000309	Abnormal midface morphology	523	ATP6V1A	ORPHA:357074
HP:0000309	Abnormal midface morphology	29920	PYCR2	OMIM:616420
HP:0000309	Abnormal midface morphology	100151683	RNU4ATAC	ORPHA:2636
HP:0000309	Abnormal midface morphology	387	RHOA	OMIM:618727
HP:0000309	Abnormal midface morphology	4693	NDP	ORPHA:649
HP:0000309	Abnormal midface morphology	9939	RBM8A	OMIM:274000
HP:0000309	Abnormal midface morphology	5077	PAX3	OMIM:122880
HP:0000309	Abnormal midface morphology	2137	EXTL3	ORPHA:508533
HP:0000309	Abnormal midface morphology	2137	EXTL3	OMIM:617425
HP:0000309	Abnormal midface morphology	9488	PIGB	OMIM:618580
HP:0000309	Abnormal midface morphology	3376	IARS1	OMIM:617093
HP:0000309	Abnormal midface morphology	3376	IARS1	ORPHA:541423
HP:0000309	Abnormal midface morphology	6309	SC5D	ORPHA:46059
HP:0000309	Abnormal midface morphology	91754	NEK9	OMIM:614262
HP:0000309	Abnormal midface morphology	23135	KDM6B	OMIM:618505
HP:0000309	Abnormal midface morphology	6885	MAP3K7	OMIM:617137
HP:0000309	Abnormal midface morphology	6885	MAP3K7	OMIM:157800
HP:0000309	Abnormal midface morphology	6885	MAP3K7	ORPHA:1826
HP:0000309	Abnormal midface morphology	3008	H1-4	OMIM:617537
HP:0000309	Abnormal midface morphology	85358	SHANK3	OMIM:606232
HP:0000309	Abnormal midface morphology	2778	GNAS	ORPHA:94089
HP:0000309	Abnormal midface morphology	2778	GNAS	OMIM:612463
HP:0000309	Abnormal midface morphology	2778	GNAS	OMIM:612462
HP:0000309	Abnormal midface morphology	2778	GNAS	ORPHA:79443
HP:0000309	Abnormal midface morphology	2778	GNAS	ORPHA:79444
HP:0000309	Abnormal midface morphology	2778	GNAS	OMIM:103580
HP:0000309	Abnormal midface morphology	8675	STX16	ORPHA:94089
HP:0000309	Abnormal midface morphology	7473	WNT3	ORPHA:3301
HP:0000309	Abnormal midface morphology	340419	RSPO2	ORPHA:3301
HP:0000309	Abnormal midface morphology	9496	TBX4	ORPHA:3301
HP:0000309	Abnormal midface morphology	27125	AFF4	ORPHA:444077
HP:0000309	Abnormal midface morphology	9578	CDC42BPB	OMIM:619841
HP:0000309	Abnormal midface morphology	8882	ZPR1	OMIM:619321
HP:0000309	Abnormal midface morphology	6492	SIM1	ORPHA:171829
HP:0000309	Abnormal midface morphology	63916	ELMO2	ORPHA:3019
HP:0000309	Abnormal midface morphology	1841	DTYMK	OMIM:619847
HP:0000309	Abnormal midface morphology	4010	LMX1B	ORPHA:495818
HP:0000309	Abnormal midface morphology	6812	STXBP1	ORPHA:495818
HP:0000309	Abnormal midface morphology	1363	CPE	OMIM:619326
HP:0000309	Abnormal midface morphology	55904	KMT2E	OMIM:618512
HP:0000309	Abnormal midface morphology	4952	OCRL	ORPHA:534
HP:0000309	Abnormal midface morphology	57231	SNX14	ORPHA:397709
HP:0000309	Abnormal midface morphology	2542	SLC37A4	ORPHA:79259
HP:0000309	Abnormal midface morphology	65082	VPS33A	ORPHA:505248
HP:0000309	Abnormal midface morphology	10735	STAG2	OMIM:301022
HP:0000309	Abnormal midface morphology	10588	MTHFS	OMIM:618367
HP:0000309	Abnormal midface morphology	1020	CDK5	OMIM:616342
HP:0000309	Abnormal midface morphology	9739	SETD1A	OMIM:619056
HP:0000309	Abnormal midface morphology	3756	KCNH1	OMIM:135500
HP:0000309	Abnormal midface morphology	3756	KCNH1	ORPHA:420561
HP:0000309	Abnormal midface morphology	80204	FBXO11	OMIM:618089
HP:0000309	Abnormal midface morphology	4853	NOTCH2	OMIM:102500
HP:0000309	Abnormal midface morphology	4853	NOTCH2	ORPHA:955
HP:0000309	Abnormal midface morphology	3423	IDS	ORPHA:217085
HP:0000309	Abnormal midface morphology	3423	IDS	ORPHA:217093
HP:0000309	Abnormal midface morphology	5604	MAP2K1	ORPHA:1340
HP:0000309	Abnormal midface morphology	5605	MAP2K2	ORPHA:1340
HP:0000309	Abnormal midface morphology	673	BRAF	ORPHA:1340
HP:0000309	Abnormal midface morphology	2248	FGF3	ORPHA:2791
HP:0000309	Abnormal midface morphology	2138	EYA1	ORPHA:2792
HP:0000309	Abnormal midface morphology	5075	PAX1	ORPHA:2792
HP:0000309	Abnormal midface morphology	83550	GPR101	ORPHA:963
HP:0000309	Abnormal midface morphology	9049	AIP	ORPHA:963
HP:0000309	Abnormal midface morphology	55764	IFT122	OMIM:218330
HP:0000309	Abnormal midface morphology	2626	GATA4	ORPHA:251071
HP:0000309	Abnormal midface morphology	22827	PUF60	ORPHA:508488
HP:0000309	Abnormal midface morphology	22827	PUF60	OMIM:615583
HP:0000309	Abnormal midface morphology	538	ATP7A	ORPHA:565
HP:0000309	Abnormal midface morphology	3265	HRAS	ORPHA:3071
HP:0000309	Abnormal midface morphology	3265	HRAS	OMIM:218040
HP:0000309	Abnormal midface morphology	3265	HRAS	OMIM:137550
HP:0000309	Abnormal midface morphology	84314	TMEM107	ORPHA:564
HP:0000309	Abnormal midface morphology	26123	TCTN3	ORPHA:564
HP:0000309	Abnormal midface morphology	79867	TCTN2	ORPHA:564
HP:0000309	Abnormal midface morphology	80776	B9D2	ORPHA:564
HP:0000309	Abnormal midface morphology	79600	TCTN1	ORPHA:564
HP:0000309	Abnormal midface morphology	57096	RPGRIP1	ORPHA:564
HP:0000309	Abnormal midface morphology	79848	CSPP1	ORPHA:564
HP:0000309	Abnormal midface morphology	80184	CEP290	ORPHA:564
HP:0000309	Abnormal midface morphology	51259	TMEM216	ORPHA:564
HP:0000309	Abnormal midface morphology	57545	CC2D2A	ORPHA:564
HP:0000309	Abnormal midface morphology	79583	TMEM231	ORPHA:564
HP:0000309	Abnormal midface morphology	91147	TMEM67	ORPHA:564
HP:0000309	Abnormal midface morphology	79770	TXNDC15	ORPHA:564
HP:0000309	Abnormal midface morphology	27077	B9D1	ORPHA:564
HP:0000309	Abnormal midface morphology	23322	RPGRIP1L	ORPHA:564
HP:0000309	Abnormal midface morphology	54903	MKS1	ORPHA:564
HP:0000309	Abnormal midface morphology	65062	TMEM237	ORPHA:564
HP:0000309	Abnormal midface morphology	171023	ASXL1	ORPHA:97297
HP:0000309	Abnormal midface morphology	5813	PURA	ORPHA:438216
HP:0000309	Abnormal midface morphology	5332	PLCB4	OMIM:620458
HP:0000309	Abnormal midface morphology	5332	PLCB4	ORPHA:137888
HP:0000309	Abnormal midface morphology	4338	MOCS2	OMIM:252160
HP:0000309	Abnormal midface morphology	2783	GNB2	OMIM:619503
HP:0000309	Abnormal midface morphology	5723	PSPH	ORPHA:79350
HP:0000309	Abnormal midface morphology	1906	EDN1	ORPHA:137888
HP:0000309	Abnormal midface morphology	1906	EDN1	OMIM:615706
HP:0000309	Abnormal midface morphology	2773	GNAI3	ORPHA:137888
HP:0000309	Abnormal midface morphology	9734	HDAC9	OMIM:620457
HP:0000309	Abnormal midface morphology	3425	IDUA	OMIM:607014
HP:0000309	Abnormal midface morphology	3425	IDUA	OMIM:607016
HP:0000309	Abnormal midface morphology	3425	IDUA	ORPHA:93473
HP:0000309	Abnormal midface morphology	9244	CRLF1	OMIM:272430
HP:0000309	Abnormal midface morphology	9244	CRLF1	ORPHA:1545
HP:0000309	Abnormal midface morphology	26834	RNU4-2	OMIM:620851
HP:0000309	Abnormal midface morphology	55975	KLHL7	OMIM:617055
HP:0000309	Abnormal midface morphology	57498	KIDINS220	OMIM:617296
HP:0000309	Abnormal midface morphology	6711	SPTBN1	OMIM:619475
HP:0000309	Abnormal midface morphology	4337	MOCS1	OMIM:252150
HP:0000309	Abnormal midface morphology	5290	PIK3CA	ORPHA:60040
HP:0000309	Abnormal midface morphology	51520	LARS1	OMIM:615438
HP:0000309	Abnormal midface morphology	9091	PIGQ	OMIM:618548
HP:0000309	Abnormal midface morphology	6925	TCF4	ORPHA:2896
HP:0000309	Abnormal midface morphology	6925	TCF4	OMIM:610954
HP:0000309	Abnormal midface morphology	388015	RTL1	ORPHA:96184
HP:0000309	Abnormal midface morphology	8788	DLK1	ORPHA:96184
HP:0000309	Abnormal midface morphology	55384	MEG3	ORPHA:96184
HP:0000309	Abnormal midface morphology	55027	HEATR3	OMIM:620072
HP:0000309	Abnormal midface morphology	6452	SH3BP2	ORPHA:184
HP:0000309	Abnormal midface morphology	23556	PIGN	ORPHA:280633
HP:0000309	Abnormal midface morphology	285590	SH3PXD2B	OMIM:249420
HP:0000309	Abnormal midface morphology	51124	IER3IP1	OMIM:614231
HP:0000309	Abnormal midface morphology	23067	SETD1B	OMIM:619000
HP:0000309	Abnormal midface morphology	1654	DDX3X	ORPHA:3338
HP:0000309	Abnormal midface morphology	3832	KIF11	ORPHA:2526
HP:0000309	Abnormal midface morphology	55704	CCDC88A	OMIM:617507
HP:0000309	Abnormal midface morphology	6901	TAFAZZIN	OMIM:302060
HP:0000309	Abnormal midface morphology	84919	PPP1R15B	OMIM:616817
HP:0000309	Abnormal midface morphology	84919	PPP1R15B	ORPHA:391408
HP:0000309	Abnormal midface morphology	93587	TRMT10A	ORPHA:391408
HP:0000309	Abnormal midface morphology	7030	TFE3	OMIM:301066
HP:0000309	Abnormal midface morphology	9895	TECPR2	ORPHA:320385
HP:0000309	Abnormal midface morphology	23162	MAPK8IP3	OMIM:618443
HP:0000309	Abnormal midface morphology	7355	SLC35A2	OMIM:300896
HP:0000309	Abnormal midface morphology	259232	NALCN	OMIM:616266
HP:0000309	Abnormal midface morphology	23483	TGDS	OMIM:616145
HP:0000309	Abnormal midface morphology	23483	TGDS	ORPHA:1388
HP:0000309	Abnormal midface morphology	8565	YARS1	OMIM:619418
HP:0000309	Abnormal midface morphology	5116	PCNT	ORPHA:2637
HP:0000309	Abnormal midface morphology	1968	EIF2S3	ORPHA:85282
HP:0000309	Abnormal midface morphology	9757	KMT2B	OMIM:619934
HP:0000309	Abnormal midface morphology	10295	BCKDK	OMIM:614923
HP:0000309	Abnormal midface morphology	8813	DPM1	ORPHA:79322
HP:0000309	Abnormal midface morphology	79158	GNPTAB	ORPHA:423461
HP:0000309	Abnormal midface morphology	71	ACTG1	ORPHA:2995
HP:0000309	Abnormal midface morphology	23529	CLCF1	ORPHA:1545
HP:0000309	Abnormal midface morphology	23040	MYT1L	ORPHA:647799
HP:0000309	Abnormal midface morphology	1387	CREBBP	OMIM:618332
HP:0000309	Abnormal midface morphology	2033	EP300	OMIM:618333
HP:0000309	Abnormal midface morphology	1917	EEF1A2	OMIM:616393
HP:0000309	Abnormal midface morphology	9742	IFT140	OMIM:266920
HP:0000309	Abnormal midface morphology	1806	DPYD	ORPHA:293948
HP:0000309	Abnormal midface morphology	26173	INTS1	OMIM:618571
HP:0000309	Abnormal midface morphology	57728	WDR19	OMIM:614378
HP:0000309	Abnormal midface morphology	57728	WDR19	OMIM:614376
HP:0000309	Abnormal midface morphology	55315	SLC29A3	ORPHA:168569
HP:0000309	Abnormal midface morphology	27445	PCLO	OMIM:608027
HP:0000309	Abnormal midface morphology	6905	TBCE	ORPHA:93324
HP:0000309	Abnormal midface morphology	90952	ESAM	OMIM:620371
HP:0000309	Abnormal midface morphology	4054	LTBP3	OMIM:617809
HP:0000309	Abnormal midface morphology	2261	FGFR3	ORPHA:15
HP:0000309	Abnormal midface morphology	1009	CDH11	ORPHA:1299
HP:0000309	Abnormal midface morphology	51651	PTRH2	ORPHA:456312
HP:0000309	Abnormal midface morphology	23347	SMCHD1	ORPHA:2250
HP:0000309	Abnormal midface morphology	8367	H4C5	OMIM:619950
HP:0000309	Abnormal midface morphology	8294	H4C9	OMIM:619951
HP:0000309	Abnormal midface morphology	6495	SIX1	OMIM:113650
HP:0000309	Abnormal midface morphology	6495	SIX1	ORPHA:107
HP:0000309	Abnormal midface morphology	6495	SIX1	ORPHA:52429
HP:0000309	Abnormal midface morphology	6495	SIX1	OMIM:608389
HP:0000309	Abnormal midface morphology	2132	EXT2	OMIM:616682
HP:0000309	Abnormal midface morphology	2335	FN1	ORPHA:93315
HP:0000309	Abnormal midface morphology	145173	B3GLCT	ORPHA:709
HP:0000309	Abnormal midface morphology	6299	SALL1	OMIM:107480
HP:0000309	Abnormal midface morphology	6299	SALL1	ORPHA:857
HP:0000309	Abnormal midface morphology	89910	UBE3B	OMIM:244450
HP:0000309	Abnormal midface morphology	89910	UBE3B	ORPHA:2707
HP:0000309	Abnormal midface morphology	4953	ODC1	ORPHA:544488
HP:0000309	Abnormal midface morphology	8260	NAA10	ORPHA:568
HP:0000309	Abnormal midface morphology	54880	BCOR	ORPHA:568
HP:0000309	Abnormal midface morphology	10943	MSL3	OMIM:301032
HP:0000309	Abnormal midface morphology	1501	CTNND2	ORPHA:281
HP:0000309	Abnormal midface morphology	9037	SEMA5A	ORPHA:281
HP:0000309	Abnormal midface morphology	4041	LRP5	ORPHA:2788
HP:0000309	Abnormal midface morphology	51729	WBP11	OMIM:619227
HP:0000309	Abnormal midface morphology	147912	SIX5	OMIM:610896
HP:0000309	Abnormal midface morphology	147912	SIX5	ORPHA:107
HP:0000309	Abnormal midface morphology	6638	SNRPN	ORPHA:177907
HP:0000309	Abnormal midface morphology	7468	NSD2	OMIM:194190
HP:0000309	Abnormal midface morphology	1487	CTBP1	OMIM:194190
HP:0000309	Abnormal midface morphology	53834	FGFRL1	OMIM:194190
HP:0000309	Abnormal midface morphology	3954	LETM1	OMIM:194190
HP:0000309	Abnormal midface morphology	57167	SALL4	ORPHA:233
HP:0000309	Abnormal midface morphology	9935	MAFB	ORPHA:233
HP:0000309	Abnormal midface morphology	1123	CHN1	ORPHA:233
HP:0000309	Abnormal midface morphology	3192	HNRNPU	ORPHA:238769
HP:0000309	Abnormal midface morphology	8092	ALX1	ORPHA:306542
HP:0000309	Abnormal midface morphology	94005	PIGS	OMIM:618143
HP:0000309	Abnormal midface morphology	57282	SLC4A10	OMIM:620746
HP:0000309	Abnormal midface morphology	1909	EDNRA	OMIM:616367
HP:0000309	Abnormal midface morphology	8364	H4C3	OMIM:619758
HP:0000309	Abnormal midface morphology	10907	TXNL4A	OMIM:608572
HP:0000309	Abnormal midface morphology	79759	ZNF668	OMIM:620194
HP:0000309	Abnormal midface morphology	55617	TASP1	OMIM:618950
HP:0000309	Abnormal midface morphology	29123	ANKRD11	ORPHA:261250
HP:0000309	Abnormal midface morphology	79971	WLS	OMIM:619648
HP:0000309	Abnormal midface morphology	51339	DACT1	ORPHA:857
HP:0000309	Abnormal midface morphology	54916	TMEM260	OMIM:617478
HP:0000309	Abnormal midface morphology	374969	SVBP	OMIM:618569
HP:0000309	Abnormal midface morphology	9897	WASHC5	ORPHA:7
HP:0000309	Abnormal midface morphology	28952	CCDC22	ORPHA:7
HP:0000309	Abnormal midface morphology	57020	VPS35L	ORPHA:7
HP:0000309	Abnormal midface morphology	56896	DPYSL5	ORPHA:7
HP:0000309	Abnormal midface morphology	257	ALX3	OMIM:136760
HP:0000309	Abnormal midface morphology	257	ALX3	ORPHA:391474
HP:0000309	Abnormal midface morphology	6595	SMARCA2	OMIM:601358
HP:0000309	Abnormal midface morphology	2719	GPC3	OMIM:312870
HP:0000309	Abnormal midface morphology	23545	ATP6V0A2	ORPHA:2834
HP:0000309	Abnormal midface morphology	340665	CYP26C1	ORPHA:398189
HP:0000309	Abnormal midface morphology	4052	LTBP1	ORPHA:90349
HP:0000309	Abnormal midface morphology	30008	EFEMP2	ORPHA:90349
HP:0000309	Abnormal midface morphology	10516	FBLN5	ORPHA:90349
HP:0000309	Abnormal midface morphology	4035	LRP1	ORPHA:79100
HP:0000309	Abnormal midface morphology	23522	KAT6B	ORPHA:3047
HP:0000309	Abnormal midface morphology	6850	SYK	OMIM:619381
HP:0000309	Abnormal midface morphology	3098	HK1	OMIM:618547
HP:0000309	Abnormal midface morphology	286	ANK1	ORPHA:251066
HP:0000309	Abnormal midface morphology	1482	NKX2-5	ORPHA:3303
HP:0000309	Abnormal midface morphology	1482	NKX2-5	OMIM:187500
HP:0000309	Abnormal midface morphology	137814	NKX2-6	ORPHA:3303
HP:0000309	Abnormal midface morphology	23414	ZFPM2	ORPHA:3303
HP:0000309	Abnormal midface morphology	23414	ZFPM2	OMIM:187500
HP:0000309	Abnormal midface morphology	3791	KDR	ORPHA:3303
HP:0000309	Abnormal midface morphology	2627	GATA6	ORPHA:3303
HP:0000309	Abnormal midface morphology	2627	GATA6	OMIM:187500
HP:0000309	Abnormal midface morphology	2657	GDF1	ORPHA:3303
HP:0000309	Abnormal midface morphology	182	JAG1	ORPHA:3303
HP:0000309	Abnormal midface morphology	182	JAG1	OMIM:187500
HP:0000309	Abnormal midface morphology	140628	GATA5	ORPHA:3303
HP:0000309	Abnormal midface morphology	2324	FLT4	ORPHA:3303
HP:0000309	Abnormal midface morphology	10370	CITED2	ORPHA:3303
HP:0000309	Abnormal midface morphology	3190	HNRNPK	ORPHA:453504
HP:0000309	Abnormal midface morphology	3190	HNRNPK	ORPHA:352665
HP:0000309	Abnormal midface morphology	23405	DICER1	OMIM:618272
HP:0000309	Abnormal midface morphology	27031	NPHP3	OMIM:208540
HP:0000309	Abnormal midface morphology	5500	PPP1CB	OMIM:617506
HP:0000309	Abnormal midface morphology	4286	MITF	OMIM:617306
HP:0000309	Abnormal midface morphology	23384	SPECC1L	ORPHA:1519
HP:0000309	Abnormal midface morphology	23384	SPECC1L	OMIM:145420
HP:0000309	Abnormal midface morphology	54872	PIGG	ORPHA:280
HP:0000309	Abnormal midface morphology	7469	NELFA	ORPHA:280
HP:0000309	Abnormal midface morphology	9451	EIF2AK3	OMIM:226980
HP:0000309	Abnormal midface morphology	4281	MID1	ORPHA:2745
HP:0000309	Abnormal midface morphology	64132	XYLT2	ORPHA:85194
HP:0000309	Abnormal midface morphology	58499	ZNF462	OMIM:618619
HP:0000309	Abnormal midface morphology	857	CAV1	OMIM:606721
HP:0000309	Abnormal midface morphology	10382	TUBB4A	ORPHA:98805
HP:0000309	Abnormal midface morphology	10382	TUBB4A	OMIM:128101
HP:0000309	Abnormal midface morphology	165	AEBP1	ORPHA:536532
HP:0000309	Abnormal midface morphology	5702	PSMC3	OMIM:619354
HP:0000309	Abnormal midface morphology	4683	NBN	OMIM:251260
HP:0000309	Abnormal midface morphology	81887	LAS1L	ORPHA:3459
HP:0000309	Abnormal midface morphology	55869	HDAC8	ORPHA:3459
HP:0000309	Abnormal midface morphology	9150	CTDP1	OMIM:604168
HP:0000309	Abnormal midface morphology	9150	CTDP1	ORPHA:48431
HP:0000309	Abnormal midface morphology	7518	XRCC4	ORPHA:436182
HP:0000309	Abnormal midface morphology	3043	HBB	ORPHA:231226
HP:0000309	Abnormal midface morphology	3043	HBB	ORPHA:231214
HP:0000309	Abnormal midface morphology	5295	PIK3R1	ORPHA:3163
HP:0000309	Abnormal midface morphology	81031	SLC2A10	ORPHA:3342
HP:0000309	Abnormal midface morphology	23019	CNOT1	ORPHA:556955
HP:0000309	Abnormal midface morphology	23019	CNOT1	OMIM:618500
HP:0000309	Abnormal midface morphology	157680	VPS13B	ORPHA:193
HP:0000309	Abnormal midface morphology	51594	NBAS	OMIM:614800
HP:0000309	Abnormal midface morphology	6804	STX1A	ORPHA:904
HP:0000309	Abnormal midface morphology	7461	CLIP2	ORPHA:904
HP:0000309	Abnormal midface morphology	84277	DNAJC30	ORPHA:904
HP:0000309	Abnormal midface morphology	8468	FKBP6	ORPHA:904
HP:0000309	Abnormal midface morphology	5982	RFC2	ORPHA:904
HP:0000309	Abnormal midface morphology	2969	GTF2I	ORPHA:904
HP:0000309	Abnormal midface morphology	3984	LIMK1	ORPHA:904
HP:0000309	Abnormal midface morphology	9569	GTF2IRD1	ORPHA:904
HP:0000309	Abnormal midface morphology	155382	VPS37D	ORPHA:904
HP:0000309	Abnormal midface morphology	155368	METTL27	ORPHA:904
HP:0000309	Abnormal midface morphology	114049	BUD23	ORPHA:904
HP:0000309	Abnormal midface morphology	7458	EIF4H	ORPHA:904
HP:0000309	Abnormal midface morphology	84163	GTF2IRD2	ORPHA:904
HP:0000309	Abnormal midface morphology	26608	TBL2	ORPHA:904
HP:0000309	Abnormal midface morphology	653361	NCF1	ORPHA:904
HP:0000309	Abnormal midface morphology	135886	TMEM270	ORPHA:904
HP:0000309	Abnormal midface morphology	9031	BAZ1B	ORPHA:904
HP:0000309	Abnormal midface morphology	90459	ERI1	OMIM:620663
HP:0000309	Abnormal midface morphology	8481	OFD1	ORPHA:2750
HP:0000309	Abnormal midface morphology	5184	PEPD	ORPHA:742
HP:0000309	Abnormal midface morphology	117581	TWIST2	ORPHA:920
HP:0000309	Abnormal midface morphology	117581	TWIST2	OMIM:200110
HP:0000309	Abnormal midface morphology	9723	SEMA3E	ORPHA:138
HP:0000309	Abnormal midface morphology	28981	IFT81	OMIM:617895
HP:0000309	Abnormal midface morphology	5728	PTEN	OMIM:605309
HP:0000309	Abnormal midface morphology	5728	PTEN	ORPHA:210548
HP:0000309	Abnormal midface morphology	8425	LTBP4	OMIM:613177
HP:0000309	Abnormal midface morphology	1355	COX15	OMIM:615119
HP:0000309	Abnormal midface morphology	9820	CUL7	ORPHA:2616
HP:0000309	Abnormal midface morphology	23363	OBSL1	ORPHA:2616
HP:0000309	Abnormal midface morphology	83987	CCDC8	ORPHA:2616
HP:0000309	Abnormal midface morphology	83987	CCDC8	OMIM:614205
HP:0000309	Abnormal midface morphology	84942	WDR73	OMIM:251300
HP:0000309	Abnormal midface morphology	1836	SLC26A2	ORPHA:56304
HP:0000309	Abnormal midface morphology	1836	SLC26A2	ORPHA:628
HP:0000309	Abnormal midface morphology	1836	SLC26A2	OMIM:256050
HP:0000309	Abnormal midface morphology	114803	MYSM1	ORPHA:508542
HP:0000309	Abnormal midface morphology	114803	MYSM1	OMIM:618116
HP:0000309	Abnormal midface morphology	267010	RNU12	OMIM:603116
HP:0000309	Abnormal midface morphology	3481	IGF2	ORPHA:231144
HP:0000309	Abnormal midface morphology	3481	IGF2	OMIM:130650
HP:0000309	Abnormal midface morphology	283120	H19	ORPHA:231144
HP:0000309	Abnormal midface morphology	3020	H3-3A	OMIM:619720
HP:0000309	Abnormal midface morphology	3021	H3-3B	OMIM:619721
HP:0000309	Abnormal midface morphology	220296	HEPACAM	ORPHA:210548
HP:0000309	Abnormal midface morphology	55159	RFWD3	OMIM:617784
HP:0000309	Abnormal midface morphology	1855	DVL1	OMIM:616331
HP:0000309	Abnormal midface morphology	1855	DVL1	OMIM:180700
HP:0000309	Abnormal midface morphology	1855	DVL1	ORPHA:3107
HP:0000309	Abnormal midface morphology	55790	CSGALNACT1	OMIM:618870
HP:0000309	Abnormal midface morphology	10730	YME1L1	OMIM:617302
HP:0000309	Abnormal midface morphology	55650	PIGV	OMIM:239300
HP:0000309	Abnormal midface morphology	54	ACP5	OMIM:607944
HP:0000309	Abnormal midface morphology	54	ACP5	ORPHA:1855
HP:0000309	Abnormal midface morphology	1298	COL9A2	OMIM:614284
HP:0000309	Abnormal midface morphology	1298	COL9A2	OMIM:600204
HP:0000309	Abnormal midface morphology	25885	POLR1A	OMIM:616462
HP:0000309	Abnormal midface morphology	816	CAMK2B	OMIM:617799
HP:0000309	Abnormal midface morphology	2200	FBN1	ORPHA:2833
HP:0000309	Abnormal midface morphology	64359	NXN	OMIM:618529
HP:0000309	Abnormal midface morphology	64359	NXN	ORPHA:1507
HP:0000309	Abnormal midface morphology	9326	ZNHIT3	ORPHA:2836
HP:0000309	Abnormal midface morphology	23184	MESD	OMIM:618644
HP:0000309	Abnormal midface morphology	1183	CLCN4	ORPHA:485350
HP:0000309	Abnormal midface morphology	1183	CLCN4	OMIM:300114
HP:0000309	Abnormal midface morphology	4920	ROR2	ORPHA:1507
HP:0000309	Abnormal midface morphology	4920	ROR2	OMIM:268310
HP:0000309	Abnormal midface morphology	1302	COL11A2	OMIM:184840
HP:0000309	Abnormal midface morphology	1302	COL11A2	OMIM:614524
HP:0000309	Abnormal midface morphology	1302	COL11A2	OMIM:215150
HP:0000309	Abnormal midface morphology	1302	COL11A2	ORPHA:1427
HP:0000309	Abnormal midface morphology	10484	SEC23A	OMIM:607812
HP:0000309	Abnormal midface morphology	652	BMP4	OMIM:607932
HP:0000309	Abnormal midface morphology	652	BMP4	ORPHA:828
HP:0000309	Abnormal midface morphology	1105	CHD1	OMIM:617682
HP:0000309	Abnormal midface morphology	1105	CHD1	ORPHA:529965
HP:0000309	Abnormal midface morphology	4330	MN1	OMIM:618774
HP:0000309	Abnormal midface morphology	57178	ZMIZ1	OMIM:618659
HP:0000309	Abnormal midface morphology	26057	ANKRD17	OMIM:619504
HP:0000309	Abnormal midface morphology	8642	DCHS1	OMIM:601390
HP:0000309	Abnormal midface morphology	26040	SETBP1	OMIM:269150
HP:0000309	Abnormal midface morphology	26040	SETBP1	ORPHA:798
HP:0000309	Abnormal midface morphology	2296	FOXC1	OMIM:602482
HP:0000309	Abnormal midface morphology	2296	FOXC1	ORPHA:782
HP:0000309	Abnormal midface morphology	11285	B4GALT7	OMIM:130070
HP:0000309	Abnormal midface morphology	55768	NGLY1	OMIM:615273
HP:0000309	Abnormal midface morphology	5311	PKD2	OMIM:613095
HP:0000309	Abnormal midface morphology	5034	P4HB	OMIM:112240
HP:0000309	Abnormal midface morphology	5034	P4HB	ORPHA:2050
HP:0000309	Abnormal midface morphology	1182	CLCN3	OMIM:619512
HP:0000309	Abnormal midface morphology	85301	COL27A1	OMIM:615155
HP:0000309	Abnormal midface morphology	3590	IL11RA	OMIM:614188
HP:0000309	Abnormal midface morphology	23126	POGZ	OMIM:616364
HP:0000309	Abnormal midface morphology	23126	POGZ	ORPHA:468678
HP:0000309	Abnormal midface morphology	55699	IARS2	OMIM:616007
HP:0000309	Abnormal midface morphology	9681	DEPDC5	OMIM:620504
HP:0000309	Abnormal midface morphology	5590	PRKCZ	ORPHA:1606
HP:0000309	Abnormal midface morphology	2563	GABRD	ORPHA:1606
HP:0000309	Abnormal midface morphology	23013	SPEN	ORPHA:1606
HP:0000309	Abnormal midface morphology	8510	MMP23B	ORPHA:1606
HP:0000309	Abnormal midface morphology	7798	LUZP1	ORPHA:1606
HP:0000309	Abnormal midface morphology	6497	SKI	ORPHA:1606
HP:0000309	Abnormal midface morphology	10630	PDPN	ORPHA:1606
HP:0000309	Abnormal midface morphology	3339	HSPG2	ORPHA:1606
HP:0000309	Abnormal midface morphology	10277	UBE4B	ORPHA:1606
HP:0000309	Abnormal midface morphology	8514	KCNAB2	ORPHA:1606
HP:0000309	Abnormal midface morphology	473	RERE	ORPHA:1606
HP:0000309	Abnormal midface morphology	63976	PRDM16	ORPHA:1606
HP:0000309	Abnormal midface morphology	54897	CASZ1	ORPHA:1606
HP:0000309	Abnormal midface morphology	6899	TBX1	ORPHA:1727
HP:0000309	Abnormal midface morphology	5727	PTCH1	OMIM:610828
HP:0000309	Abnormal midface morphology	2736	GLI2	OMIM:610829
HP:0000309	Abnormal midface morphology	2736	GLI2	OMIM:615849
HP:0000309	Abnormal midface morphology	79718	TBL1XR1	OMIM:602342
HP:0000309	Abnormal midface morphology	26137	ZBTB20	OMIM:259050
HP:0000309	Abnormal midface morphology	26137	ZBTB20	ORPHA:3042
HP:0000309	Abnormal midface morphology	51098	IFT52	OMIM:617102
HP:0000309	Abnormal midface morphology	53335	BCL11A	OMIM:617101
HP:0000309	Abnormal midface morphology	6942	TCF20	OMIM:618430
HP:0000309	Abnormal midface morphology	4285	MIPEP	OMIM:617228
HP:0000309	Abnormal midface morphology	9158	FIBP	OMIM:617107
HP:0000309	Abnormal midface morphology	9158	FIBP	ORPHA:500095
HP:0000309	Abnormal midface morphology	2263	FGFR2	ORPHA:168624
HP:0000309	Abnormal midface morphology	2263	FGFR2	OMIM:123790
HP:0000309	Abnormal midface morphology	2263	FGFR2	OMIM:101200
HP:0000309	Abnormal midface morphology	2263	FGFR2	OMIM:123500
HP:0000309	Abnormal midface morphology	2263	FGFR2	ORPHA:207
HP:0000309	Abnormal midface morphology	2263	FGFR2	ORPHA:313855
HP:0000309	Abnormal midface morphology	2263	FGFR2	ORPHA:87
HP:0000309	Abnormal midface morphology	2263	FGFR2	ORPHA:93260
HP:0000309	Abnormal midface morphology	2263	FGFR2	ORPHA:93258
HP:0000309	Abnormal midface morphology	2263	FGFR2	OMIM:207410
HP:0000309	Abnormal midface morphology	2263	FGFR2	OMIM:614592
HP:0000309	Abnormal midface morphology	2263	FGFR2	ORPHA:1555
HP:0000309	Abnormal midface morphology	2263	FGFR2	OMIM:123150
HP:0000309	Abnormal midface morphology	2263	FGFR2	ORPHA:1540
HP:0000309	Abnormal midface morphology	2316	FLNA	OMIM:304120
HP:0000309	Abnormal midface morphology	5354	PLP1	ORPHA:280229
HP:0000309	Abnormal midface morphology	124583	CANT1	OMIM:251450
HP:0000309	Abnormal midface morphology	1301	COL11A1	ORPHA:440354
HP:0000309	Abnormal midface morphology	1301	COL11A1	OMIM:604841
HP:0000309	Abnormal midface morphology	1301	COL11A1	OMIM:154780
HP:0000309	Abnormal midface morphology	3930	LBR	OMIM:215140
HP:0000309	Abnormal midface morphology	3930	LBR	OMIM:618019
HP:0000309	Abnormal midface morphology	3930	LBR	ORPHA:1426
HP:0000309	Abnormal midface morphology	3835	KIF22	OMIM:603546
HP:0000309	Abnormal midface morphology	3835	KIF22	ORPHA:93360
HP:0000309	Abnormal midface morphology	57479	PRR12	OMIM:619539
HP:0000309	Abnormal midface morphology	2260	FGFR1	OMIM:166250
HP:0000309	Abnormal midface morphology	2260	FGFR1	ORPHA:93258
HP:0000309	Abnormal midface morphology	2260	FGFR1	OMIM:123150
HP:0000309	Abnormal midface morphology	7994	KAT6A	OMIM:616268
HP:0000309	Abnormal midface morphology	4087	SMAD2	OMIM:619656
HP:0000309	Abnormal midface morphology	4087	SMAD2	OMIM:619657
HP:0000309	Abnormal midface morphology	1107	CHD3	OMIM:618205
HP:0000309	Abnormal midface morphology	79087	ALG12	ORPHA:79324
HP:0000309	Abnormal midface morphology	79087	ALG12	OMIM:607143
HP:0000309	Abnormal midface morphology	25970	SH2B1	ORPHA:261197
HP:0000309	Abnormal midface morphology	6261	RYR1	OMIM:619542
HP:0000309	Abnormal midface morphology	56160	NSMCE3	OMIM:617241
HP:0000309	Abnormal midface morphology	5881	RAC3	OMIM:618577
HP:0000309	Abnormal midface morphology	3658	IREB2	OMIM:618451
HP:0000309	Abnormal midface morphology	1642	DDB1	OMIM:619426
HP:0000309	Abnormal midface morphology	5908	RAP1B	OMIM:620654
HP:0000309	Abnormal midface morphology	9949	AMMECR1	OMIM:300990
HP:0000309	Abnormal midface morphology	4921	DDR2	OMIM:271665
HP:0000309	Abnormal midface morphology	4921	DDR2	OMIM:618175
HP:0000309	Abnormal midface morphology	55628	ZNF407	OMIM:619557
HP:0000309	Abnormal midface morphology	79813	EHMT1	ORPHA:96147
HP:0000309	Abnormal midface morphology	79813	EHMT1	OMIM:610253
HP:0000309	Abnormal midface morphology	79813	EHMT1	ORPHA:261652
HP:0000309	Abnormal midface morphology	2690	GHR	ORPHA:314802
HP:0000309	Abnormal midface morphology	5745	PTH1R	OMIM:600002
HP:0000309	Abnormal midface morphology	5308	PITX2	ORPHA:782
HP:0000309	Abnormal midface morphology	2972	BRF1	ORPHA:444072
HP:0000309	Abnormal midface morphology	221496	LEMD2	OMIM:619322
HP:0000309	Abnormal midface morphology	9871	SEC24D	OMIM:616294
HP:0000309	Abnormal midface morphology	9871	SEC24D	ORPHA:2050
HP:0000309	Abnormal midface morphology	29998	BICRA	OMIM:619325
HP:0000309	Abnormal midface morphology	6651	SON	OMIM:617140
HP:0000309	Abnormal midface morphology	57520	HECW2	OMIM:617268
HP:0000309	Abnormal midface morphology	176	ACAN	OMIM:612813
HP:0000309	Abnormal midface morphology	176	ACAN	ORPHA:171866
HP:0000309	Abnormal midface morphology	176	ACAN	ORPHA:435804
HP:0000309	Abnormal midface morphology	176	ACAN	OMIM:165800
HP:0000309	Abnormal midface morphology	56975	FAM20C	OMIM:259775
HP:0000309	Abnormal midface morphology	4763	NF1	OMIM:601321
HP:0000309	Abnormal midface morphology	55777	MBD5	OMIM:156200
HP:0000309	Abnormal midface morphology	4784	NFIX	OMIM:602535
HP:0000309	Abnormal midface morphology	4784	NFIX	OMIM:614753
HP:0000309	Abnormal midface morphology	10940	POP1	OMIM:617396
HP:0000309	Abnormal midface morphology	4125	MAN2B1	OMIM:248500
HP:0000309	Abnormal midface morphology	5831	PYCR1	OMIM:612940
HP:0000309	Abnormal midface morphology	2077	ERF	ORPHA:207
HP:0000309	Abnormal midface morphology	2077	ERF	OMIM:600775
HP:0000309	Abnormal midface morphology	23389	MED13L	ORPHA:369891
HP:0000309	Abnormal midface morphology	7319	UBE2A	OMIM:300860
HP:0000309	Abnormal midface morphology	7319	UBE2A	ORPHA:163956
HP:0000309	Abnormal midface morphology	1280	COL2A1	OMIM:156550
HP:0000309	Abnormal midface morphology	1280	COL2A1	OMIM:271700
HP:0000309	Abnormal midface morphology	1280	COL2A1	OMIM:151210
HP:0000309	Abnormal midface morphology	1280	COL2A1	OMIM:108300
HP:0000309	Abnormal midface morphology	1280	COL2A1	ORPHA:93296
HP:0000309	Abnormal midface morphology	1280	COL2A1	OMIM:609508
HP:0000309	Abnormal midface morphology	1277	COL1A1	OMIM:130060
HP:0000309	Abnormal midface morphology	63931	MRPS14	OMIM:618378
HP:0000309	Abnormal midface morphology	3977	LIFR	OMIM:601559
HP:0000309	Abnormal midface morphology	11342	RNF13	OMIM:618379
HP:0000309	Abnormal midface morphology	11342	RNF13	ORPHA:544503
HP:0000309	Abnormal midface morphology	3188	HNRNPH2	OMIM:300986
HP:0000309	Abnormal midface morphology	6304	SATB1	OMIM:619229
HP:0000309	Abnormal midface morphology	5573	PRKAR1A	OMIM:101800
HP:0000309	Abnormal midface morphology	5573	PRKAR1A	ORPHA:950
HP:0000309	Abnormal midface morphology	9343	EFTUD2	OMIM:610536
HP:0000309	Abnormal midface morphology	57003	CCDC47	OMIM:618268
HP:0000309	Abnormal midface morphology	80036	TRPM3	OMIM:620224
HP:0000309	Abnormal midface morphology	4796	TONSL	OMIM:271510
HP:0000309	Abnormal midface morphology	4796	TONSL	ORPHA:93357
HP:0000309	Abnormal midface morphology	10682	EBP	OMIM:300960
HP:0000309	Abnormal midface morphology	10682	EBP	ORPHA:401973
HP:0000309	Abnormal midface morphology	84172	POLR1B	ORPHA:861
HP:0000309	Abnormal midface morphology	9533	POLR1C	ORPHA:861
HP:0000309	Abnormal midface morphology	51082	POLR1D	ORPHA:861
HP:0000309	Abnormal midface morphology	6949	TCOF1	ORPHA:861
HP:0000309	Abnormal midface morphology	7204	TRIO	OMIM:617061
HP:0000309	Abnormal midface morphology	5189	PEX1	OMIM:601539
HP:0000309	Abnormal midface morphology	51715	RAB23	OMIM:201000
HP:0000309	Abnormal midface morphology	10220	GDF11	OMIM:619122
HP:0000309	Abnormal midface morphology	23169	SLC35D1	OMIM:269250
HP:0000309	Abnormal midface morphology	60	ACTB	OMIM:620475
HP:0000309	Abnormal midface morphology	60	ACTB	OMIM:243310
HP:0000309	Abnormal midface morphology	126792	B3GALT6	OMIM:271640
HP:0000309	Abnormal midface morphology	126792	B3GALT6	OMIM:609465
HP:0000309	Abnormal midface morphology	126792	B3GALT6	ORPHA:536467
HP:0000309	Abnormal midface morphology	9759	HDAC4	OMIM:600430
HP:0000309	Abnormal midface morphology	9759	HDAC4	ORPHA:1001
HP:0000309	Abnormal midface morphology	4256	MGP	OMIM:245150
HP:0000309	Abnormal midface morphology	4256	MGP	ORPHA:85202
HP:0000309	Abnormal midface morphology	5528	PPP2R5D	ORPHA:457279
HP:0000309	Abnormal midface morphology	22800	RRAS2	ORPHA:648
HP:0000309	Abnormal midface morphology	867	CBL	ORPHA:648
HP:0000309	Abnormal midface morphology	8216	LZTR1	ORPHA:648
HP:0000309	Abnormal midface morphology	8216	LZTR1	OMIM:605275
HP:0000309	Abnormal midface morphology	6016	RIT1	ORPHA:648
HP:0000309	Abnormal midface morphology	6237	RRAS	ORPHA:648
HP:0000309	Abnormal midface morphology	5894	RAF1	ORPHA:648
HP:0000309	Abnormal midface morphology	22808	MRAS	ORPHA:648
HP:0000309	Abnormal midface morphology	3845	KRAS	ORPHA:648
HP:0000309	Abnormal midface morphology	200734	SPRED2	ORPHA:648
HP:0000309	Abnormal midface morphology	4893	NRAS	ORPHA:648
HP:0000309	Abnormal midface morphology	6654	SOS1	ORPHA:648
HP:0000309	Abnormal midface morphology	6655	SOS2	ORPHA:648
HP:0000309	Abnormal midface morphology	5781	PTPN11	ORPHA:648
HP:0000309	Abnormal midface morphology	5922	RASA2	ORPHA:648
HP:0000309	Abnormal midface morphology	83737	ITCH	ORPHA:228426
HP:0000309	Abnormal midface morphology	83737	ITCH	OMIM:613385
HP:0000309	Abnormal midface morphology	7474	WNT5A	OMIM:180700
HP:0000309	Abnormal midface morphology	7474	WNT5A	ORPHA:3107
HP:0000309	Abnormal midface morphology	23299	BICD2	OMIM:618291
HP:0000309	Abnormal midface morphology	11011	TLK2	OMIM:618050
HP:0000309	Abnormal midface morphology	1513	CTSK	ORPHA:763
HP:0000309	Abnormal midface morphology	90121	TSR2	OMIM:300946
HP:0000309	Abnormal midface morphology	5566	PRKACA	OMIM:619142
HP:0000309	Abnormal midface morphology	84168	ANTXR1	ORPHA:2067
HP:0000309	Abnormal midface morphology	871	SERPINH1	OMIM:613848
HP:0000309	Abnormal midface morphology	121340	SP7	OMIM:613849
HP:0000309	Abnormal midface morphology	8085	KMT2D	OMIM:147920
HP:0000309	Abnormal midface morphology	8085	KMT2D	OMIM:620186
HP:0000309	Abnormal midface morphology	7403	KDM6A	OMIM:147920
HP:0000309	Abnormal midface morphology	50964	SOST	OMIM:269500
HP:0000309	Abnormal midface morphology	5144	PDE4D	ORPHA:950
HP:0000309	Abnormal midface morphology	5144	PDE4D	OMIM:614613
HP:0000309	Abnormal midface morphology	10128	LRPPRC	OMIM:220111
HP:0000309	Abnormal midface morphology	9131	AIFM1	OMIM:300232
HP:0000309	Abnormal midface morphology	9131	AIFM1	ORPHA:83629
HP:0000309	Abnormal midface morphology	6535	SLC6A8	OMIM:300352
HP:0000309	Abnormal midface morphology	10262	SF3B4	OMIM:154400
HP:0000309	Abnormal midface morphology	10491	CRTAP	ORPHA:2050
HP:0000309	Abnormal midface morphology	57539	WDR35	OMIM:613610
HP:0000309	Abnormal midface morphology	55624	POMGNT1	OMIM:253280
HP:0000309	Abnormal midface morphology	4000	LMNA	OMIM:176670
HP:0000309	Abnormal midface morphology	1299	COL9A3	OMIM:620022
HP:0000309	Abnormal midface morphology	5447	POR	ORPHA:95699
HP:0000309	Abnormal midface morphology	5447	POR	OMIM:201750
HP:0000309	Abnormal midface morphology	5447	POR	OMIM:207410
HP:0000309	Abnormal midface morphology	8443	GNPAT	OMIM:222765
HP:0000309	Abnormal midface morphology	2317	FLNB	ORPHA:1190
HP:0000309	Abnormal midface morphology	2317	FLNB	OMIM:108721
HP:0000309	Abnormal midface morphology	2317	FLNB	OMIM:108720
HP:0000309	Abnormal midface morphology	2317	FLNB	OMIM:150250
HP:0000309	Abnormal midface morphology	51506	UFC1	OMIM:618076
HP:0000309	Abnormal midface morphology	22858	CILK1	OMIM:612651
HP:0000309	Abnormal midface morphology	2314	FLII	ORPHA:819
HP:0000309	Abnormal midface morphology	23096	IQSEC2	ORPHA:819
HP:0000309	Abnormal midface morphology	10743	RAI1	ORPHA:819
HP:0000309	Abnormal midface morphology	10743	RAI1	OMIM:182290
HP:0000309	Abnormal midface morphology	10522	DEAF1	ORPHA:819
HP:0000309	Abnormal midface morphology	6662	SOX9	OMIM:114290
HP:0000309	Abnormal midface morphology	5818	NECTIN1	ORPHA:3253
HP:0000309	Abnormal midface morphology	271	AMPD2	OMIM:615809
HP:0000309	Abnormal midface morphology	9382	COG1	OMIM:611209
HP:0000309	Abnormal midface morphology	56992	KIF15	ORPHA:261323
HP:0000309	Abnormal midface morphology	55858	TMEM165	OMIM:614727
HP:0000309	Abnormal midface morphology	546	ATRX	ORPHA:847
HP:0000309	Abnormal midface morphology	546	ATRX	OMIM:309580
HP:0000309	Abnormal midface morphology	546	ATRX	OMIM:301040
HP:0000309	Abnormal midface morphology	283989	TSEN54	ORPHA:166063
HP:0000309	Abnormal midface morphology	860	RUNX2	OMIM:119600
HP:0000309	Abnormal midface morphology	860	RUNX2	ORPHA:1452
HP:0000309	Abnormal midface morphology	1954	MEGF8	OMIM:614976
HP:0000309	Abnormal midface morphology	23314	SATB2	OMIM:612313
HP:0000309	Abnormal midface morphology	6234	RPS28	OMIM:606164
HP:0000309	Abnormal midface morphology	2615	LRRC32	OMIM:619074
HP:0000309	Abnormal midface morphology	5626	PROP1	ORPHA:226307
HP:0000309	Abnormal midface morphology	89884	LHX4	ORPHA:226307
HP:0000309	Abnormal midface morphology	8022	LHX3	ORPHA:226307
HP:0000309	Abnormal midface morphology	5449	POU1F1	ORPHA:226307
HP:0000309	Abnormal midface morphology	5449	POU1F1	OMIM:613038
HP:0000309	Abnormal midface morphology	8820	HESX1	ORPHA:226307
HP:0000309	Abnormal midface morphology	1857	DVL3	ORPHA:3107
HP:0000309	Abnormal midface morphology	1857	DVL3	OMIM:616894
HP:0000309	Abnormal midface morphology	2535	FZD2	ORPHA:3107
HP:0000309	Abnormal midface morphology	3211	HOXB1	OMIM:614744
HP:0000309	Abnormal midface morphology	8379	MAD1L1	OMIM:620189
HP:0000309	Abnormal midface morphology	4036	LRP2	OMIM:222448
HP:0000309	Abnormal midface morphology	51611	DPH5	OMIM:620070
HP:0000309	Abnormal midface morphology	5700	PSMC1	OMIM:620071
HP:0000309	Abnormal midface morphology	58508	KMT2C	ORPHA:261652
HP:0000309	Abnormal midface morphology	58508	KMT2C	OMIM:617768
HP:0000309	Abnormal midface morphology	4089	SMAD4	OMIM:139210
HP:0000309	Abnormal midface morphology	4089	SMAD4	ORPHA:2588
HP:0000309	Abnormal midface morphology	5159	PDGFRB	OMIM:601812
HP:0000309	Abnormal midface morphology	54499	TMCO1	ORPHA:1394
HP:0000309	Abnormal midface morphology	2006	ELN	OMIM:194050
HP:0000309	Abnormal midface morphology	51085	MLXIPL	OMIM:194050
HP:0000309	Abnormal midface morphology	1028	CDKN1C	OMIM:130650
HP:0000309	Abnormal midface morphology	3784	KCNQ1	OMIM:130650
HP:0000309	Abnormal midface morphology	10984	KCNQ1OT1	OMIM:130650
HP:0000309	Abnormal midface morphology	22930	RAB3GAP1	ORPHA:1387
HP:0000309	Abnormal midface morphology	25782	RAB3GAP2	ORPHA:1387
HP:0000309	Abnormal midface morphology	51322	WAC	OMIM:616708
HP:0000309	Abnormal midface morphology	701	BUB1B	OMIM:257300
HP:0000309	Abnormal midface morphology	51053	GMNN	OMIM:616835
HP:0000309	Abnormal midface morphology	10664	CTCF	OMIM:615502
HP:0000309	Abnormal midface morphology	10664	CTCF	ORPHA:363611
HP:0000309	Abnormal midface morphology	6664	SOX11	OMIM:615866
HP:0000309	Abnormal midface morphology	3720	JARID2	OMIM:620098
HP:0000309	Abnormal midface morphology	7291	TWIST1	ORPHA:35099
HP:0000309	Abnormal midface morphology	7291	TWIST1	OMIM:617746
HP:0000309	Abnormal midface morphology	6938	TCF12	ORPHA:35099
HP:0000309	Abnormal midface morphology	7545	ZIC1	ORPHA:35099
HP:0000309	Abnormal midface morphology	2245	FGD1	OMIM:305400
HP:0000309	Abnormal midface morphology	8243	SMC1A	OMIM:301044
HP:0000309	Abnormal midface morphology	2290	FOXG1	OMIM:613454
HP:0000309	Abnormal midface morphology	23394	ADNP	OMIM:615873
HP:0000309	Abnormal midface morphology	79650	USB1	OMIM:604173
HP:0000309	Abnormal midface morphology	55593	OTUD5	OMIM:301056
HP:0000309	Abnormal midface morphology	3313	HSPA9	OMIM:616854
HP:0000309	Abnormal midface morphology	2902	GRIN1	OMIM:617820
HP:0000309	Abnormal midface morphology	998	CDC42	OMIM:616737
HP:0000309	Abnormal midface morphology	998	CDC42	ORPHA:487796
HP:0000309	Abnormal midface morphology	23097	CDK19	OMIM:618916
HP:0000309	Abnormal midface morphology	84679	SLC9A7	OMIM:301024
HP:0000309	Abnormal midface morphology	2239	GPC4	OMIM:301026
HP:0000309	Abnormal midface morphology	29940	DSE	OMIM:615539
HP:0000309	Abnormal midface morphology	54539	NDUFB11	ORPHA:2556
HP:0000309	Abnormal midface morphology	1349	COX7B	ORPHA:2556
HP:0000309	Abnormal midface morphology	3052	HCCS	ORPHA:2556
HP:0000309	Abnormal midface morphology	6469	SHH	OMIM:142945
HP:0000309	Abnormal midface morphology	5718	PSMD12	ORPHA:529962
HP:0000309	Abnormal midface morphology	2186	BPTF	ORPHA:529962
HP:0000309	Abnormal midface morphology	79576	NKAP	OMIM:301039
HP:0000309	Abnormal midface morphology	2475	MTOR	OMIM:616638
HP:0000309	Abnormal midface morphology	79633	FAT4	OMIM:615546
HP:0000309	Abnormal midface morphology	80781	COL18A1	ORPHA:1571
HP:0000309	Abnormal midface morphology	80781	COL18A1	OMIM:267750
HP:0000309	Abnormal midface morphology	5062	PAK2	ORPHA:1571
HP:0000309	Abnormal midface morphology	55644	OSGEP	OMIM:617729
HP:0000309	Abnormal midface morphology	55180	LINS1	OMIM:614340
HP:0000309	Abnormal midface morphology	10815	CPLX1	OMIM:617976
HP:0000309	Abnormal midface morphology	29957	SLC25A24	OMIM:612289
HP:0000309	Abnormal midface morphology	80232	WDR26	OMIM:617616
HP:0000309	Abnormal midface morphology	8936	WASF1	OMIM:618707
HP:0000309	Abnormal midface morphology	2893	GRIA4	OMIM:617864
HP:0000309	Abnormal midface morphology	4094	MAF	OMIM:601088
HP:0000309	Abnormal midface morphology	153241	CEP120	OMIM:616300
HP:0000309	Abnormal midface morphology	178	AGL	OMIM:232400
HP:0000309	Abnormal midface morphology	650	BMP2	OMIM:617877
HP:0000309	Abnormal midface morphology	1748	DLX4	OMIM:616788
HP:0000309	Abnormal midface morphology	8815	BANF1	OMIM:614008
HP:0000309	Abnormal midface morphology	6496	SIX3	OMIM:157170
HP:0000309	Abnormal midface morphology	9130	FAM50A	OMIM:300261
HP:0000309	Abnormal midface morphology	9469	CHST3	OMIM:245600
HP:0000309	Abnormal midface morphology	26229	B3GAT3	OMIM:245600
HP:0000309	Abnormal midface morphology	4204	MECP2	OMIM:300260
HP:0000309	Abnormal midface morphology	57647	DHX37	OMIM:618731
HP:0000309	Abnormal midface morphology	7043	TGFB3	OMIM:615582
HP:0000309	Abnormal midface morphology	7543	ZFX	OMIM:301118
HP:0000309	Abnormal midface morphology	2036	EPB41L1	OMIM:614257
HP:0000309	Abnormal midface morphology	10844	TUBGCP2	OMIM:618737
HP:0000309	Abnormal midface morphology	406932	MIR140	OMIM:618618
HP:0000309	Abnormal midface morphology	25871	NEPRO	OMIM:618853
HP:0000309	Abnormal midface morphology	246329	STAC3	OMIM:255995
HP:0000309	Abnormal midface morphology	56172	ANKH	OMIM:123000
HP:0000309	Abnormal midface morphology	760	CA2	ORPHA:2785
HP:0000309	Abnormal midface morphology	92335	STRADA	OMIM:611087
HP:0000309	Abnormal midface morphology	1297	COL9A1	OMIM:614134
HP:0000309	Abnormal midface morphology	23111	SPART	OMIM:275900
HP:0000309	Abnormal midface morphology	286053	NSMCE2	OMIM:617253
HP:0000309	Abnormal midface morphology	10265	IRX5	OMIM:611174
HP:0000309	Abnormal midface morphology	529	ATP6V1E1	OMIM:617402
HP:0000309	Abnormal midface morphology	26053	AUTS2	ORPHA:352490
HP:0033631	Spondylitis	8651	SOCS1	OMIM:619375
HP:0033637	Anti-endomysial antibody positivity	326	AIRE	OMIM:240300
HP:0012801	Narrow jaw	60482	SLC5A7	ORPHA:98914
HP:0012801	Narrow jaw	4649	MYO9A	ORPHA:98914
HP:0012801	Narrow jaw	1305	COL13A1	ORPHA:98914
HP:0012801	Narrow jaw	1103	CHAT	ORPHA:98914
HP:0012801	Narrow jaw	6576	SLC25A1	ORPHA:98914
HP:0012801	Narrow jaw	6843	VAMP1	ORPHA:98914
HP:0012801	Narrow jaw	375790	AGRN	ORPHA:98914
HP:0012801	Narrow jaw	127833	SYT2	ORPHA:98914
HP:0012801	Narrow jaw	6572	SLC18A3	ORPHA:98914
HP:0012801	Narrow jaw	6616	SNAP25	ORPHA:98914
HP:0012801	Narrow jaw	4654	MYOD1	OMIM:618975
HP:0012801	Narrow jaw	8812	CCNK	OMIM:618147
HP:0012801	Narrow jaw	64324	NSD1	OMIM:117550
HP:0012802	Broad jaw	203859	ANO5	ORPHA:53697
HP:0012802	Broad jaw	6452	SH3BP2	ORPHA:184
HP:0012802	Broad jaw	79753	SNIP1	OMIM:614501
HP:0012802	Broad jaw	83550	GPR101	ORPHA:963
HP:0012802	Broad jaw	9049	AIP	ORPHA:963
HP:0012802	Broad jaw	4041	LRP5	ORPHA:178377
HP:0012803	Anisometropia	473	RERE	ORPHA:494344
HP:0012803	Anisometropia	473	RERE	OMIM:616975
HP:0012803	Anisometropia	2263	FGFR2	ORPHA:87
HP:0012803	Anisometropia	3845	KRAS	OMIM:600268
HP:0012803	Anisometropia	164	AP1G1	OMIM:619467
HP:0012803	Anisometropia	1182	CLCN3	OMIM:619512
HP:0012803	Anisometropia	23126	POGZ	OMIM:616364
HP:0012803	Anisometropia	7355	SLC35A2	ORPHA:356961
HP:0012803	Anisometropia	1545	CYP1B1	ORPHA:98976
HP:0012803	Anisometropia	4053	LTBP2	ORPHA:98976
HP:0012803	Anisometropia	4653	MYOC	ORPHA:98976
HP:0012803	Anisometropia	7010	TEK	ORPHA:98976
HP:0012804	Corneal ulceration	6898	TAT	OMIM:276600
HP:0012804	Corneal ulceration	8518	ELP1	OMIM:223900
HP:0012804	Corneal ulceration	55768	NGLY1	OMIM:615273
HP:0012804	Corneal ulceration	26128	KIFBP	OMIM:609460
HP:0012804	Corneal ulceration	1161	ERCC8	ORPHA:90324
HP:0012804	Corneal ulceration	2074	ERCC6	ORPHA:90324
HP:0012804	Corneal ulceration	59335	PRDM12	OMIM:616488
HP:0012804	Corneal ulceration	4358	MPV17	OMIM:256810
HP:0012804	Corneal ulceration	29926	GMPPA	ORPHA:869
HP:0012804	Corneal ulceration	60684	TRAPPC11	ORPHA:869
HP:0012804	Corneal ulceration	8086	AAAS	ORPHA:869
HP:0012804	Corneal ulceration	7389	UROD	ORPHA:95159
HP:0012804	Corneal ulceration	4547	MTTP	ORPHA:14
HP:0012804	Corneal ulceration	4914	NTRK1	ORPHA:642
HP:0012804	Corneal ulceration	4914	NTRK1	OMIM:256800
HP:0012804	Corneal ulceration	4000	LMNA	ORPHA:740
HP:0012804	Corneal ulceration	10269	ZMPSTE24	ORPHA:740
HP:0012804	Corneal ulceration	2934	GSN	ORPHA:85448
HP:0012804	Corneal ulceration	54101	RIPK4	OMIM:263650
HP:0012804	Corneal ulceration	2303	FOXC2	OMIM:153400
HP:0012804	Corneal ulceration	2706	GJB2	OMIM:148210
HP:0012804	Corneal ulceration	2263	FGFR2	ORPHA:2363
HP:0012804	Corneal ulceration	2261	FGFR3	ORPHA:2363
HP:0012804	Corneal ulceration	2255	FGF10	ORPHA:2363
HP:0012804	Corneal ulceration	7390	UROS	ORPHA:79277
HP:0012804	Corneal ulceration	2623	GATA1	ORPHA:79277
HP:0012805	Iris transillumination defect	80781	COL18A1	OMIM:267750
HP:0012805	Iris transillumination defect	63915	BLOC1S5	OMIM:619172
HP:0012805	Iris transillumination defect	114902	C1QTNF5	ORPHA:67042
HP:0012805	Iris transillumination defect	11234	HPS5	OMIM:614074
HP:0012805	Iris transillumination defect	54507	ADAMTSL4	OMIM:225200
HP:0012805	Iris transillumination defect	388552	BLOC1S3	OMIM:614077
HP:0012805	Iris transillumination defect	1638	DCT	OMIM:619165
HP:0012805	Iris transillumination defect	79803	HPS6	OMIM:614075
HP:0012805	Iris transillumination defect	11152	WDR45	OMIM:615179
HP:0012805	Iris transillumination defect	83938	LRMDA	OMIM:615179
HP:0012805	Iris transillumination defect	27151	CPAMD8	OMIM:617319
HP:0012805	Iris transillumination defect	91851	CHRDL1	OMIM:309300
HP:0012805	Iris transillumination defect	4286	MITF	OMIM:617306
HP:0012805	Iris transillumination defect	4157	MC1R	ORPHA:79432
HP:0012805	Iris transillumination defect	4948	OCA2	ORPHA:79432
HP:0012806	Proboscis	6469	SHH	OMIM:142945
HP:0012806	Proboscis	6469	SHH	ORPHA:220386
HP:0012806	Proboscis	6469	SHH	ORPHA:93926
HP:0012806	Proboscis	6469	SHH	ORPHA:93924
HP:0012806	Proboscis	6469	SHH	ORPHA:93925
HP:0012806	Proboscis	2260	FGFR1	ORPHA:220386
HP:0012806	Proboscis	2260	FGFR1	ORPHA:93924
HP:0012806	Proboscis	28514	DLL1	ORPHA:220386
HP:0012806	Proboscis	28514	DLL1	ORPHA:93926
HP:0012806	Proboscis	28514	DLL1	ORPHA:93924
HP:0012806	Proboscis	28514	DLL1	ORPHA:93925
HP:0012806	Proboscis	10735	STAG2	ORPHA:220386
HP:0012806	Proboscis	10735	STAG2	ORPHA:93925
HP:0012806	Proboscis	2253	FGF8	ORPHA:220386
HP:0012806	Proboscis	2253	FGF8	ORPHA:93926
HP:0012806	Proboscis	2253	FGF8	ORPHA:93924
HP:0012806	Proboscis	2253	FGF8	ORPHA:93925
HP:0012806	Proboscis	8243	SMC1A	ORPHA:220386
HP:0012806	Proboscis	6496	SIX3	ORPHA:220386
HP:0012806	Proboscis	6496	SIX3	ORPHA:93926
HP:0012806	Proboscis	6496	SIX3	ORPHA:93924
HP:0012806	Proboscis	6496	SIX3	ORPHA:93925
HP:0012806	Proboscis	6496	SIX3	OMIM:157170
HP:0012806	Proboscis	7050	TGIF1	ORPHA:220386
HP:0012806	Proboscis	7050	TGIF1	ORPHA:93926
HP:0012806	Proboscis	7050	TGIF1	ORPHA:93924
HP:0012806	Proboscis	7050	TGIF1	ORPHA:93925
HP:0012806	Proboscis	4838	NODAL	ORPHA:220386
HP:0012806	Proboscis	4838	NODAL	ORPHA:93926
HP:0012806	Proboscis	4838	NODAL	ORPHA:93924
HP:0012806	Proboscis	4838	NODAL	ORPHA:93925
HP:0012806	Proboscis	7546	ZIC2	ORPHA:220386
HP:0012806	Proboscis	7546	ZIC2	ORPHA:93926
HP:0012806	Proboscis	7546	ZIC2	ORPHA:93924
HP:0012806	Proboscis	7546	ZIC2	ORPHA:93925
HP:0012806	Proboscis	6491	STIL	ORPHA:220386
HP:0012806	Proboscis	6491	STIL	ORPHA:93926
HP:0012806	Proboscis	6491	STIL	ORPHA:93924
HP:0012806	Proboscis	6491	STIL	ORPHA:93925
HP:0012806	Proboscis	2619	GAS1	ORPHA:220386
HP:0012806	Proboscis	2619	GAS1	ORPHA:93926
HP:0012806	Proboscis	2619	GAS1	ORPHA:93924
HP:0012806	Proboscis	2619	GAS1	ORPHA:93925
HP:0012806	Proboscis	84976	DISP1	ORPHA:220386
HP:0012806	Proboscis	84976	DISP1	ORPHA:93926
HP:0012806	Proboscis	84976	DISP1	ORPHA:93924
HP:0012806	Proboscis	84976	DISP1	ORPHA:93925
HP:0012806	Proboscis	2736	GLI2	ORPHA:220386
HP:0012806	Proboscis	2736	GLI2	ORPHA:93926
HP:0012806	Proboscis	2736	GLI2	ORPHA:93924
HP:0012806	Proboscis	2736	GLI2	ORPHA:93925
HP:0012806	Proboscis	8928	FOXH1	ORPHA:220386
HP:0012806	Proboscis	8928	FOXH1	ORPHA:93926
HP:0012806	Proboscis	8928	FOXH1	ORPHA:93924
HP:0012806	Proboscis	8928	FOXH1	ORPHA:93925
HP:0012806	Proboscis	6997	CRIPTO	ORPHA:220386
HP:0012806	Proboscis	6997	CRIPTO	ORPHA:93926
HP:0012806	Proboscis	6997	CRIPTO	ORPHA:93924
HP:0012806	Proboscis	6997	CRIPTO	ORPHA:93925
HP:0012806	Proboscis	5727	PTCH1	ORPHA:220386
HP:0012806	Proboscis	5727	PTCH1	ORPHA:93926
HP:0012806	Proboscis	5727	PTCH1	ORPHA:93924
HP:0012806	Proboscis	5727	PTCH1	ORPHA:93925
HP:0012806	Proboscis	50937	CDON	ORPHA:220386
HP:0012806	Proboscis	50937	CDON	ORPHA:93926
HP:0012806	Proboscis	50937	CDON	ORPHA:93924
HP:0012806	Proboscis	50937	CDON	ORPHA:93925
HP:0012806	Proboscis	23007	PLCH1	ORPHA:93925
HP:0012806	Proboscis	23007	PLCH1	OMIM:619895
HP:0012806	Proboscis	8085	KMT2D	OMIM:147920
HP:0012806	Proboscis	7403	KDM6A	OMIM:147920
HP:0012808	Abnormal nasal base norphology	9896	FIG4	ORPHA:3472
HP:0012808	Abnormal nasal base norphology	55697	VAC14	ORPHA:3472
HP:0012808	Abnormal nasal base norphology	29081	METTL5	OMIM:618665
HP:0012808	Abnormal nasal base norphology	1836	SLC26A2	ORPHA:56304
HP:0012808	Abnormal nasal base norphology	6595	SMARCA2	OMIM:601358
HP:0012808	Abnormal nasal base norphology	25942	SIN3A	ORPHA:94065
HP:0012808	Abnormal nasal base norphology	3977	LIFR	OMIM:601559
HP:0012808	Abnormal nasal base norphology	23404	EXOSC2	OMIM:617763
HP:0012808	Abnormal nasal base norphology	57231	SNX14	OMIM:616354
HP:0012808	Abnormal nasal base norphology	57231	SNX14	ORPHA:397709
HP:0012808	Abnormal nasal base norphology	23461	ABCA5	OMIM:135400
HP:0012808	Abnormal nasal base norphology	63035	BCORL1	OMIM:301029
HP:0012808	Abnormal nasal base norphology	4613	MYCN	OMIM:620748
HP:0012808	Abnormal nasal base norphology	51111	KMT5B	OMIM:617788
HP:0012808	Abnormal nasal base norphology	6597	SMARCA4	ORPHA:1465
HP:0012808	Abnormal nasal base norphology	6598	SMARCB1	ORPHA:1465
HP:0012808	Abnormal nasal base norphology	6659	SOX4	ORPHA:1465
HP:0012808	Abnormal nasal base norphology	8289	ARID1A	ORPHA:1465
HP:0012808	Abnormal nasal base norphology	5977	DPF2	ORPHA:1465
HP:0012808	Abnormal nasal base norphology	6601	SMARCC2	ORPHA:1465
HP:0012808	Abnormal nasal base norphology	6602	SMARCD1	ORPHA:1465
HP:0012808	Abnormal nasal base norphology	57492	ARID1B	ORPHA:1465
HP:0012808	Abnormal nasal base norphology	196528	ARID2	ORPHA:1465
HP:0012808	Abnormal nasal base norphology	6605	SMARCE1	ORPHA:1465
HP:0012808	Abnormal nasal base norphology	6664	SOX11	ORPHA:1465
HP:0012808	Abnormal nasal base norphology	529	ATP6V1E1	OMIM:617402
HP:0012808	Abnormal nasal base norphology	23040	MYT1L	OMIM:616521
HP:0012808	Abnormal nasal base norphology	8239	USP9X	ORPHA:480880
HP:0012808	Abnormal nasal base norphology	10664	CTCF	OMIM:615502
HP:0012808	Abnormal nasal base norphology	526	ATP6V1B2	ORPHA:79500
HP:0012808	Abnormal nasal base norphology	57465	TBC1D24	ORPHA:79500
HP:0012809	Narrow nasal base	9896	FIG4	ORPHA:3472
HP:0012809	Narrow nasal base	55697	VAC14	ORPHA:3472
HP:0012809	Narrow nasal base	29081	METTL5	OMIM:618665
HP:0033638	Intralobular septal thickening	653509	SFTPA1	OMIM:619611
HP:0033638	Intralobular septal thickening	6440	SFTPC	OMIM:610913
HP:0007505	Progressive hyperpigmentation	4254	KITLG	OMIM:145250
HP:0007620	Cutaneous leiomyoma	2271	FH	OMIM:606812
HP:0007620	Cutaneous leiomyoma	2271	FH	OMIM:150800
HP:0007620	Cutaneous leiomyoma	2271	FH	ORPHA:523
HP:0007620	Cutaneous leiomyoma	201163	FLCN	OMIM:135150
HP:0007500	Decreased number of sweat glands	3861	KRT14	ORPHA:69087
HP:0007500	Decreased number of sweat glands	8626	TP63	OMIM:129400
HP:0007501	Streaks of hyperkeratosis along each finger onto the palm	1828	DSG1	OMIM:148700
HP:0007502	Follicular hyperkeratosis	147409	DSG4	ORPHA:573
HP:0007502	Follicular hyperkeratosis	147409	DSG4	OMIM:607903
HP:0007502	Follicular hyperkeratosis	3892	KRT86	ORPHA:573
HP:0007502	Follicular hyperkeratosis	3889	KRT83	ORPHA:573
HP:0007502	Follicular hyperkeratosis	3887	KRT81	ORPHA:573
HP:0007502	Follicular hyperkeratosis	10804	GJB6	ORPHA:477
HP:0007502	Follicular hyperkeratosis	2706	GJB2	ORPHA:477
HP:0007502	Follicular hyperkeratosis	5317	PKP1	ORPHA:158668
HP:0007502	Follicular hyperkeratosis	1291	COL6A1	OMIM:254090
HP:0007502	Follicular hyperkeratosis	1291	COL6A1	OMIM:158810
HP:0007502	Follicular hyperkeratosis	5351	PLOD1	OMIM:225400
HP:0007502	Follicular hyperkeratosis	55033	FKBP14	ORPHA:300179
HP:0007502	Follicular hyperkeratosis	55033	FKBP14	OMIM:614557
HP:0007502	Follicular hyperkeratosis	79651	RHBDF2	OMIM:148500
HP:0007502	Follicular hyperkeratosis	6897	TARS1	OMIM:618546
HP:0007502	Follicular hyperkeratosis	3868	KRT16	OMIM:167200
HP:0007502	Follicular hyperkeratosis	3868	KRT16	OMIM:613000
HP:0007502	Follicular hyperkeratosis	3868	KRT16	ORPHA:2309
HP:0007502	Follicular hyperkeratosis	55851	PSENEN	OMIM:613736
HP:0007502	Follicular hyperkeratosis	4035	LRP1	ORPHA:79100
HP:0007502	Follicular hyperkeratosis	80326	WNT10A	OMIM:257980
HP:0007502	Follicular hyperkeratosis	6720	SREBF1	OMIM:158310
HP:0007502	Follicular hyperkeratosis	1001	CDH3	OMIM:601553
HP:0007502	Follicular hyperkeratosis	10999	SLC27A4	OMIM:608649
HP:0007502	Follicular hyperkeratosis	51360	MBTPS2	OMIM:308800
HP:0007502	Follicular hyperkeratosis	51360	MBTPS2	OMIM:308205
HP:0007502	Follicular hyperkeratosis	9325	TRIP4	OMIM:617066
HP:0007502	Follicular hyperkeratosis	9325	TRIP4	ORPHA:486815
HP:0007502	Follicular hyperkeratosis	831	CAST	OMIM:616295
HP:0007502	Follicular hyperkeratosis	4921	DDR2	OMIM:618175
HP:0007502	Follicular hyperkeratosis	22861	NLRP1	OMIM:617388
HP:0007502	Follicular hyperkeratosis	22861	NLRP1	OMIM:615225
HP:0007502	Follicular hyperkeratosis	5950	RBP4	OMIM:615147
HP:0007502	Follicular hyperkeratosis	1825	DSC3	OMIM:613102
HP:0007502	Follicular hyperkeratosis	23509	POFUT1	OMIM:615327
HP:0007502	Follicular hyperkeratosis	3853	KRT6A	OMIM:615726
HP:0007502	Follicular hyperkeratosis	3853	KRT6A	ORPHA:2309
HP:0007502	Follicular hyperkeratosis	3872	KRT17	ORPHA:2309
HP:0007502	Follicular hyperkeratosis	3854	KRT6B	ORPHA:2309
HP:0007503	Generalized ichthyosis	10999	SLC27A4	OMIM:608649
HP:0007503	Generalized ichthyosis	26227	PHGDH	ORPHA:79351
HP:0007503	Generalized ichthyosis	4014	LORICRIN	ORPHA:79395
HP:0007503	Generalized ichthyosis	348938	NIPAL4	OMIM:612281
HP:0007503	Generalized ichthyosis	285848	PNPLA1	OMIM:615024
HP:0430037	Abnormal alcohol consumption	3064	HTT	ORPHA:399
HP:0430037	Abnormal alcohol consumption	6515	SLC2A3	ORPHA:399
HP:0430037	Abnormal alcohol consumption	6774	STAT3	ORPHA:520
HP:0430037	Abnormal alcohol consumption	5371	PML	ORPHA:520
HP:0430037	Abnormal alcohol consumption	5914	RARA	ORPHA:520
HP:0430037	Abnormal alcohol consumption	359948	IRF2BP2	ORPHA:520
HP:0430037	Abnormal alcohol consumption	81608	FIP1L1	ORPHA:520
HP:0430037	Abnormal alcohol consumption	4869	NPM1	ORPHA:520
HP:0430037	Abnormal alcohol consumption	5573	PRKAR1A	ORPHA:520
HP:0430037	Abnormal alcohol consumption	54880	BCOR	ORPHA:520
HP:0430037	Abnormal alcohol consumption	64859	NABP1	ORPHA:520
HP:0430037	Abnormal alcohol consumption	6777	STAT5B	ORPHA:520
HP:0430037	Abnormal alcohol consumption	4926	NUMA1	ORPHA:520
HP:0430037	Abnormal alcohol consumption	7704	ZBTB16	ORPHA:520
HP:0430037	Abnormal alcohol consumption	79718	TBL1XR1	ORPHA:520
HP:0430037	Abnormal alcohol consumption	8910	SGCE	OMIM:159900
HP:0430037	Abnormal alcohol consumption	23592	LEMD3	ORPHA:166119
HP:0430037	Abnormal alcohol consumption	50833	TAS2R16	OMIM:103780
HP:0430037	Abnormal alcohol consumption	125	ADH1B	OMIM:103780
HP:0430037	Abnormal alcohol consumption	126	ADH1C	OMIM:103780
HP:0430037	Abnormal alcohol consumption	2555	GABRA2	OMIM:103780
HP:0430037	Abnormal alcohol consumption	7187	TRAF3	ORPHA:1930
HP:0430037	Abnormal alcohol consumption	81622	UNC93B1	ORPHA:1930
HP:0430037	Abnormal alcohol consumption	148022	TICAM1	ORPHA:1930
HP:0430037	Abnormal alcohol consumption	7098	TLR3	ORPHA:1930
HP:0430037	Abnormal alcohol consumption	29110	TBK1	ORPHA:1930
HP:0033640	Acetabular erosions	3373	HYAL1	OMIM:601492
HP:0033643	Increased circulating very long-chain fatty acid concentration	5190	PEX6	OMIM:614862
HP:0033643	Increased circulating very long-chain fatty acid concentration	215	ABCD1	ORPHA:369942
HP:0033643	Increased circulating very long-chain fatty acid concentration	10134	BCAP31	ORPHA:369942
HP:0033643	Increased circulating very long-chain fatty acid concentration	5828	PEX2	OMIM:614866
HP:0033643	Increased circulating very long-chain fatty acid concentration	5195	PEX14	OMIM:614887
HP:0033643	Increased circulating very long-chain fatty acid concentration	3295	HSD17B4	OMIM:261515
HP:0033643	Increased circulating very long-chain fatty acid concentration	5193	PEX12	OMIM:614859
HP:0033643	Increased circulating very long-chain fatty acid concentration	23600	AMACR	OMIM:614307
HP:0033643	Increased circulating very long-chain fatty acid concentration	85021	REPS1	OMIM:617916
HP:0033643	Increased circulating very long-chain fatty acid concentration	1174	AP1S1	OMIM:609313
HP:0033644	Elevated circulating erythropoietin concentration	2034	EPAS1	OMIM:611783
HP:0033644	Elevated circulating erythropoietin concentration	2056	EPO	OMIM:617907
HP:0033644	Elevated circulating erythropoietin concentration	7428	VHL	OMIM:263400
HP:0033645	Midline brainstem cleft	1630	DCC	OMIM:617542
HP:0033646	Absent hippocampal commissure	1630	DCC	OMIM:617542
HP:0012810	Wide nasal base	1836	SLC26A2	ORPHA:56304
HP:0012810	Wide nasal base	6595	SMARCA2	OMIM:601358
HP:0012810	Wide nasal base	25942	SIN3A	ORPHA:94065
HP:0012810	Wide nasal base	3977	LIFR	OMIM:601559
HP:0012810	Wide nasal base	29081	METTL5	OMIM:618665
HP:0012810	Wide nasal base	23404	EXOSC2	OMIM:617763
HP:0012810	Wide nasal base	57231	SNX14	OMIM:616354
HP:0012810	Wide nasal base	57231	SNX14	ORPHA:397709
HP:0012810	Wide nasal base	23461	ABCA5	OMIM:135400
HP:0012810	Wide nasal base	63035	BCORL1	OMIM:301029
HP:0012810	Wide nasal base	4613	MYCN	OMIM:620748
HP:0012810	Wide nasal base	51111	KMT5B	OMIM:617788
HP:0012810	Wide nasal base	6597	SMARCA4	ORPHA:1465
HP:0012810	Wide nasal base	6598	SMARCB1	ORPHA:1465
HP:0012810	Wide nasal base	6659	SOX4	ORPHA:1465
HP:0012810	Wide nasal base	8289	ARID1A	ORPHA:1465
HP:0012810	Wide nasal base	5977	DPF2	ORPHA:1465
HP:0012810	Wide nasal base	6601	SMARCC2	ORPHA:1465
HP:0012810	Wide nasal base	6602	SMARCD1	ORPHA:1465
HP:0012810	Wide nasal base	57492	ARID1B	ORPHA:1465
HP:0012810	Wide nasal base	196528	ARID2	ORPHA:1465
HP:0012810	Wide nasal base	6605	SMARCE1	ORPHA:1465
HP:0012810	Wide nasal base	6664	SOX11	ORPHA:1465
HP:0012810	Wide nasal base	529	ATP6V1E1	OMIM:617402
HP:0012810	Wide nasal base	23040	MYT1L	OMIM:616521
HP:0012810	Wide nasal base	8239	USP9X	ORPHA:480880
HP:0012810	Wide nasal base	10664	CTCF	OMIM:615502
HP:0012810	Wide nasal base	526	ATP6V1B2	ORPHA:79500
HP:0012810	Wide nasal base	57465	TBC1D24	ORPHA:79500
HP:0012811	Wide nasal ridge	10943	MSL3	OMIM:301032
HP:0012811	Wide nasal ridge	3190	HNRNPK	OMIM:616580
HP:0012811	Wide nasal ridge	23512	SUZ12	OMIM:618786
HP:0012811	Wide nasal ridge	29081	METTL5	OMIM:618665
HP:0012811	Wide nasal ridge	60529	ALX4	OMIM:613451
HP:0012811	Wide nasal ridge	60529	ALX4	OMIM:609597
HP:0012811	Wide nasal ridge	6134	RPL10	ORPHA:459070
HP:0012811	Wide nasal ridge	11128	POLR3A	ORPHA:3455
HP:0012811	Wide nasal ridge	9179	AP4M1	OMIM:612936
HP:0012811	Wide nasal ridge	79718	TBL1XR1	ORPHA:487825
HP:0012811	Wide nasal ridge	93986	FOXP2	ORPHA:251061
HP:0012812	Fullness of paranasal tissue	2697	GJA1	OMIM:218400
HP:0012812	Fullness of paranasal tissue	56172	ANKH	OMIM:123000
HP:0012813	Unilateral breast hypoplasia	1947	EFNB1	OMIM:304110
HP:0012813	Unilateral breast hypoplasia	60	ACTB	OMIM:604919
HP:0012813	Unilateral breast hypoplasia	8239	USP9X	OMIM:300968
HP:0012814	Bilateral breast hypoplasia	8626	TP63	ORPHA:69085
HP:0012814	Bilateral breast hypoplasia	2488	FSHB	ORPHA:52901
HP:0012814	Bilateral breast hypoplasia	51199	NIN	ORPHA:319675
HP:0012815	Hypoplastic female external genitalia	23476	BRD4	ORPHA:199
HP:0012815	Hypoplastic female external genitalia	9126	SMC3	ORPHA:199
HP:0012815	Hypoplastic female external genitalia	8243	SMC1A	ORPHA:199
HP:0012815	Hypoplastic female external genitalia	6878	TAF6	ORPHA:199
HP:0012815	Hypoplastic female external genitalia	25836	NIPBL	ORPHA:199
HP:0012815	Hypoplastic female external genitalia	25836	NIPBL	OMIM:122470
HP:0012815	Hypoplastic female external genitalia	55869	HDAC8	ORPHA:199
HP:0012815	Hypoplastic female external genitalia	5885	RAD21	ORPHA:199
HP:0012815	Hypoplastic female external genitalia	10664	CTCF	ORPHA:363611
HP:0012815	Hypoplastic female external genitalia	2100	ESR2	OMIM:618187
HP:0012815	Hypoplastic female external genitalia	3664	IRF6	ORPHA:1300
HP:0012815	Hypoplastic female external genitalia	3664	IRF6	OMIM:119500
HP:0012815	Hypoplastic female external genitalia	29957	SLC25A24	OMIM:612289
HP:0012815	Hypoplastic female external genitalia	117581	TWIST2	OMIM:209885
HP:0012815	Hypoplastic female external genitalia	117581	TWIST2	OMIM:200110
HP:0012815	Hypoplastic female external genitalia	8626	TP63	OMIM:129400
HP:0012815	Hypoplastic female external genitalia	23347	SMCHD1	OMIM:603457
HP:0012815	Hypoplastic female external genitalia	9896	FIG4	ORPHA:3472
HP:0012815	Hypoplastic female external genitalia	55697	VAC14	ORPHA:3472
HP:0012815	Hypoplastic female external genitalia	2571	GAD1	OMIM:619124
HP:0012815	Hypoplastic female external genitalia	54101	RIPK4	OMIM:263650
HP:0012815	Hypoplastic female external genitalia	89910	UBE3B	OMIM:244450
HP:0012815	Hypoplastic female external genitalia	9427	ECEL1	OMIM:615065
HP:0012815	Hypoplastic female external genitalia	2263	FGFR2	OMIM:207410
HP:0012815	Hypoplastic female external genitalia	2263	FGFR2	OMIM:123790
HP:0012815	Hypoplastic female external genitalia	26040	SETBP1	OMIM:269150
HP:0012815	Hypoplastic female external genitalia	2535	FZD2	OMIM:164745
HP:0012815	Hypoplastic female external genitalia	2535	FZD2	ORPHA:3107
HP:0012815	Hypoplastic female external genitalia	64840	PORCN	OMIM:305600
HP:0012815	Hypoplastic female external genitalia	6638	SNRPN	ORPHA:177904
HP:0012815	Hypoplastic female external genitalia	6638	SNRPN	ORPHA:177901
HP:0012815	Hypoplastic female external genitalia	6638	SNRPN	ORPHA:98754
HP:0012815	Hypoplastic female external genitalia	4692	NDN	ORPHA:177904
HP:0012815	Hypoplastic female external genitalia	4692	NDN	ORPHA:177901
HP:0012815	Hypoplastic female external genitalia	4692	NDN	ORPHA:98754
HP:0012815	Hypoplastic female external genitalia	54551	MAGEL2	ORPHA:177904
HP:0012815	Hypoplastic female external genitalia	54551	MAGEL2	ORPHA:177901
HP:0012815	Hypoplastic female external genitalia	54551	MAGEL2	ORPHA:398069
HP:0012815	Hypoplastic female external genitalia	54551	MAGEL2	OMIM:176270
HP:0012815	Hypoplastic female external genitalia	54551	MAGEL2	ORPHA:98754
HP:0012815	Hypoplastic female external genitalia	4948	OCA2	ORPHA:177904
HP:0012815	Hypoplastic female external genitalia	4948	OCA2	ORPHA:177901
HP:0012815	Hypoplastic female external genitalia	4948	OCA2	ORPHA:98754
HP:0012815	Hypoplastic female external genitalia	1857	DVL3	OMIM:616894
HP:0012815	Hypoplastic female external genitalia	1857	DVL3	ORPHA:3107
HP:0012815	Hypoplastic female external genitalia	1855	DVL1	OMIM:616331
HP:0012815	Hypoplastic female external genitalia	1855	DVL1	ORPHA:3107
HP:0012815	Hypoplastic female external genitalia	1855	DVL1	OMIM:180700
HP:0012815	Hypoplastic female external genitalia	145173	B3GLCT	OMIM:261540
HP:0012815	Hypoplastic female external genitalia	145173	B3GLCT	ORPHA:709
HP:0012815	Hypoplastic female external genitalia	7474	WNT5A	ORPHA:3107
HP:0012815	Hypoplastic female external genitalia	7474	WNT5A	OMIM:180700
HP:0012815	Hypoplastic female external genitalia	55012	PPP2R3C	OMIM:618419
HP:0012815	Hypoplastic female external genitalia	6492	SIM1	ORPHA:398079
HP:0012815	Hypoplastic female external genitalia	25886	POC1A	OMIM:614813
HP:0012815	Hypoplastic female external genitalia	81620	CDT1	ORPHA:2554
HP:0012815	Hypoplastic female external genitalia	5000	ORC4	ORPHA:2554
HP:0012815	Hypoplastic female external genitalia	23594	ORC6	ORPHA:2554
HP:0012815	Hypoplastic female external genitalia	8318	CDC45	ORPHA:2554
HP:0012815	Hypoplastic female external genitalia	990	CDC6	ORPHA:2554
HP:0012815	Hypoplastic female external genitalia	4998	ORC1	ORPHA:2554
HP:0012815	Hypoplastic female external genitalia	51053	GMNN	ORPHA:2554
HP:0012815	Hypoplastic female external genitalia	22930	RAB3GAP1	ORPHA:2510
HP:0012815	Hypoplastic female external genitalia	25782	RAB3GAP2	ORPHA:2510
HP:0012815	Hypoplastic female external genitalia	22931	RAB18	ORPHA:2510
HP:0012815	Hypoplastic female external genitalia	128637	TBC1D20	ORPHA:2510
HP:0012815	Hypoplastic female external genitalia	100033413	SNORD116-1	OMIM:176270
HP:0012815	Hypoplastic female external genitalia	8924	HERC2	OMIM:176270
HP:0012815	Hypoplastic female external genitalia	23742	NPAP1	OMIM:176270
HP:0012815	Hypoplastic female external genitalia	338433	SNORD115-1	OMIM:176270
HP:0012815	Hypoplastic female external genitalia	7681	MKRN3	OMIM:176270
HP:0012815	Hypoplastic female external genitalia	145624	PWAR1	OMIM:176270
HP:0012815	Hypoplastic female external genitalia	3653	IPW	OMIM:176270
HP:0012815	Hypoplastic female external genitalia	791114	PWRN1	OMIM:176270
HP:0012815	Hypoplastic female external genitalia	4081	MAB21L1	ORPHA:495875
HP:0012815	Hypoplastic female external genitalia	60	ACTB	ORPHA:64755
HP:0012815	Hypoplastic female external genitalia	10236	HNRNPR	OMIM:620073
HP:0012815	Hypoplastic female external genitalia	6595	SMARCA2	OMIM:619293
HP:0012815	Hypoplastic female external genitalia	367	AR	OMIM:300068
HP:0012815	Hypoplastic female external genitalia	5447	POR	OMIM:201750
HP:0012815	Hypoplastic female external genitalia	92002	CCNQ	ORPHA:140952
HP:0012815	Hypoplastic female external genitalia	92002	CCNQ	OMIM:300707
HP:0012815	Hypoplastic female external genitalia	23522	KAT6B	OMIM:606170
HP:0012815	Hypoplastic female external genitalia	55636	CHD7	OMIM:214800
HP:0012815	Hypoplastic female external genitalia	55636	CHD7	ORPHA:138
HP:0012815	Hypoplastic female external genitalia	9723	SEMA3E	ORPHA:138
HP:0012815	Hypoplastic female external genitalia	64359	NXN	ORPHA:1507
HP:0012815	Hypoplastic female external genitalia	4920	ROR2	ORPHA:1507
HP:0012815	Hypoplastic female external genitalia	7841	MOGS	OMIM:606056
HP:0012815	Hypoplastic female external genitalia	5881	RAC3	OMIM:618577
HP:0012817	Noncompaction cardiomyopathy	6910	TBX5	OMIM:142900
HP:0012817	Noncompaction cardiomyopathy	57534	MIB1	OMIM:615092
HP:0012817	Noncompaction cardiomyopathy	23417	MLYCD	OMIM:248360
HP:0012817	Noncompaction cardiomyopathy	6262	RYR2	OMIM:115000
HP:0012817	Noncompaction cardiomyopathy	4841	NONO	OMIM:300967
HP:0012817	Noncompaction cardiomyopathy	54675	CRLS1	OMIM:620167
HP:0012817	Noncompaction cardiomyopathy	7168	TPM1	OMIM:611878
HP:0012817	Noncompaction cardiomyopathy	4633	MYL2	OMIM:619424
HP:0012817	Noncompaction cardiomyopathy	93649	MYOCD	OMIM:618719
HP:0012817	Noncompaction cardiomyopathy	6389	SDHA	ORPHA:3208
HP:0012817	Noncompaction cardiomyopathy	6390	SDHB	ORPHA:3208
HP:0012817	Noncompaction cardiomyopathy	6392	SDHD	ORPHA:3208
HP:0012817	Noncompaction cardiomyopathy	644096	SDHAF1	ORPHA:3208
HP:0012817	Noncompaction cardiomyopathy	131118	DNAJC19	OMIM:610198
HP:0012817	Noncompaction cardiomyopathy	114803	MYSM1	ORPHA:508542
HP:0012817	Noncompaction cardiomyopathy	1660	DHX9	OMIM:620988
HP:0012817	Noncompaction cardiomyopathy	1837	DTNA	OMIM:604169
HP:0012817	Noncompaction cardiomyopathy	100151683	RNU4ATAC	ORPHA:353298
HP:0012817	Noncompaction cardiomyopathy	100151683	RNU4ATAC	OMIM:616651
HP:0012819	Myocarditis	7428	VHL	ORPHA:892
HP:0012819	Myocarditis	595	CCND1	ORPHA:892
HP:0012819	Myocarditis	2879	GPX4	ORPHA:93317
HP:0012819	Myocarditis	2879	GPX4	OMIM:250220
HP:0012819	Myocarditis	801	CALM1	OMIM:616247
HP:0012819	Myocarditis	81031	SLC2A10	ORPHA:3342
HP:0012819	Myocarditis	27068	PPA2	OMIM:617222
HP:0012819	Myocarditis	3662	IRF4	ORPHA:3452
HP:0012819	Myocarditis	149233	IL23R	ORPHA:117
HP:0012819	Myocarditis	6775	STAT4	ORPHA:117
HP:0012819	Myocarditis	3586	IL10	ORPHA:117
HP:0012819	Myocarditis	4210	MEFV	ORPHA:117
HP:0012819	Myocarditis	1230	CCR1	ORPHA:117
HP:0012819	Myocarditis	355	FAS	ORPHA:117
HP:0012819	Myocarditis	3592	IL12A	ORPHA:117
HP:0012819	Myocarditis	101928376	IL12A-AS1	ORPHA:117
HP:0012819	Myocarditis	3106	HLA-B	ORPHA:117
HP:0012819	Myocarditis	7099	TLR4	ORPHA:117
HP:0012819	Myocarditis	3459	IFNGR1	ORPHA:117
HP:0012819	Myocarditis	720	C4A	ORPHA:117
HP:0012819	Myocarditis	337867	UBAC2	ORPHA:117
HP:0012819	Myocarditis	51752	ERAP1	ORPHA:117
HP:0012819	Myocarditis	8302	KLRC4	ORPHA:117
HP:0033649	Paraseptal emphysema	21	ABCA3	OMIM:610921
HP:0007516	Redundant skin on fingers	4882	NPR2	OMIM:602875
HP:0007510	Focal dermal aplasia/hypoplasia	64840	PORCN	OMIM:305600
HP:0007514	Edema of the dorsum of hands	284	ANGPT1	OMIM:619361
HP:0007514	Edema of the dorsum of hands	7051	TGM1	ORPHA:281127
HP:0007514	Edema of the dorsum of hands	64711	HS3ST6	OMIM:619367
HP:0007514	Edema of the dorsum of hands	9326	ZNHIT3	OMIM:260565
HP:0007514	Edema of the dorsum of hands	3827	KNG1	OMIM:619363
HP:0007514	Edema of the dorsum of hands	58	ACTA1	ORPHA:171430
HP:0007514	Edema of the dorsum of hands	4703	NEB	ORPHA:171430
HP:0007514	Edema of the dorsum of hands	131377	KLHL40	ORPHA:171430
HP:0007514	Edema of the dorsum of hands	10324	KLHL41	ORPHA:171430
HP:0007514	Edema of the dorsum of hands	56203	LMOD3	ORPHA:171430
HP:0007514	Edema of the dorsum of hands	9373	PLAA	ORPHA:521426
HP:0007514	Edema of the dorsum of hands	9373	PLAA	OMIM:617527
HP:0007514	Edema of the dorsum of hands	11342	RNF13	ORPHA:544503
HP:0007514	Edema of the dorsum of hands	710	SERPING1	ORPHA:100050
HP:0007514	Edema of the dorsum of hands	2050	EPHB4	ORPHA:90186
HP:0007514	Edema of the dorsum of hands	9939	RBM8A	OMIM:274000
HP:0007515	Hypoplastic pilosebaceous units	4035	LRP1	ORPHA:79100
HP:0430043	Thoracic lordosis	6197	RPS6KA3	OMIM:303600
HP:0430043	Thoracic lordosis	113189	CHST14	OMIM:601776
HP:0430043	Thoracic lordosis	2200	FBN1	OMIM:154700
HP:0025100	Abnormal hippocampus morphology	9839	ZEB2	ORPHA:261537
HP:0025100	Abnormal hippocampus morphology	9839	ZEB2	ORPHA:261552
HP:0025100	Abnormal hippocampus morphology	9839	ZEB2	OMIM:235730
HP:0025100	Abnormal hippocampus morphology	23230	VPS13A	ORPHA:2388
HP:0025100	Abnormal hippocampus morphology	7025	NR2F1	ORPHA:401777
HP:0025100	Abnormal hippocampus morphology	10815	CPLX1	ORPHA:352582
HP:0025100	Abnormal hippocampus morphology	57465	TBC1D24	ORPHA:352582
HP:0025100	Abnormal hippocampus morphology	2902	GRIN1	ORPHA:208447
HP:0025100	Abnormal hippocampus morphology	23499	MACF1	ORPHA:572013
HP:0025100	Abnormal hippocampus morphology	387119	CEP85L	ORPHA:572013
HP:0025100	Abnormal hippocampus morphology	7846	TUBA1A	ORPHA:171680
HP:0025100	Abnormal hippocampus morphology	10381	TUBB3	ORPHA:300570
HP:0025100	Abnormal hippocampus morphology	5888	RAD51	ORPHA:238722
HP:0025100	Abnormal hippocampus morphology	10126	DNAL4	ORPHA:238722
HP:0025100	Abnormal hippocampus morphology	9423	NTN1	ORPHA:238722
HP:0025100	Abnormal hippocampus morphology	1630	DCC	ORPHA:238722
HP:0025100	Abnormal hippocampus morphology	56896	DPYSL5	OMIM:619435
HP:0025100	Abnormal hippocampus morphology	6335	SCN9A	ORPHA:33069
HP:0025100	Abnormal hippocampus morphology	6326	SCN2A	ORPHA:33069
HP:0025100	Abnormal hippocampus morphology	2554	GABRA1	ORPHA:33069
HP:0025100	Abnormal hippocampus morphology	6323	SCN1A	ORPHA:33069
HP:0025100	Abnormal hippocampus morphology	6324	SCN1B	ORPHA:33069
HP:0025100	Abnormal hippocampus morphology	57526	PCDH19	ORPHA:33069
HP:0025100	Abnormal hippocampus morphology	2566	GABRG2	ORPHA:33069
HP:0025100	Abnormal hippocampus morphology	23030	KDM4B	OMIM:619320
HP:0025100	Abnormal hippocampus morphology	4522	MTHFD1	OMIM:617780
HP:0025100	Abnormal hippocampus morphology	10617	STAMBP	OMIM:614261
HP:0025100	Abnormal hippocampus morphology	2009	EML1	OMIM:600348
HP:0025100	Abnormal hippocampus morphology	79587	CARS2	ORPHA:477774
HP:0025100	Abnormal hippocampus morphology	28962	OSTM1	ORPHA:85179
HP:0025100	Abnormal hippocampus morphology	1182	CLCN3	OMIM:619517
HP:0025100	Abnormal hippocampus morphology	478	ATP1A3	OMIM:619606
HP:0025100	Abnormal hippocampus morphology	738	VPS51	OMIM:618606
HP:0025100	Abnormal hippocampus morphology	7355	SLC35A2	ORPHA:356961
HP:0025100	Abnormal hippocampus morphology	54820	NDE1	ORPHA:2177
HP:0025100	Abnormal hippocampus morphology	6925	TCF4	OMIM:610954
HP:0025100	Abnormal hippocampus morphology	5457	POU4F1	ORPHA:314647
HP:0025100	Abnormal hippocampus morphology	23261	CAMTA1	ORPHA:314647
HP:0025100	Abnormal hippocampus morphology	6900	CNTN2	OMIM:615400
HP:0025100	Abnormal hippocampus morphology	51117	COQ4	OMIM:620666
HP:0025100	Abnormal hippocampus morphology	26834	RNU4-2	OMIM:620851
HP:0025100	Abnormal hippocampus morphology	11023	VAX1	OMIM:614402
HP:0025100	Abnormal hippocampus morphology	5908	RAP1B	OMIM:620654
HP:0025100	Abnormal hippocampus morphology	10695	CNPY3	OMIM:617929
HP:0025100	Abnormal hippocampus morphology	1763	DNA2	OMIM:620819
HP:0025100	Abnormal hippocampus morphology	100151683	RNU4ATAC	ORPHA:353298
HP:0025100	Abnormal hippocampus morphology	2917	GRM7	OMIM:618922
HP:0025100	Abnormal hippocampus morphology	5927	KDM5A	OMIM:620820
HP:0025100	Abnormal hippocampus morphology	57094	CPA6	OMIM:614418
HP:0025100	Abnormal hippocampus morphology	29998	BICRA	OMIM:619325
HP:0025100	Abnormal hippocampus morphology	4750	NEK1	OMIM:617892
HP:0025100	Abnormal hippocampus morphology	84631	SLITRK2	OMIM:301107
HP:0025100	Abnormal hippocampus morphology	10347	ABCA7	OMIM:608907
HP:0025101	Dysgenesis of the hippocampus	7846	TUBA1A	ORPHA:171680
HP:0025101	Dysgenesis of the hippocampus	10381	TUBB3	ORPHA:300570
HP:0025101	Dysgenesis of the hippocampus	23499	MACF1	OMIM:618325
HP:0025101	Dysgenesis of the hippocampus	5888	RAD51	ORPHA:238722
HP:0025101	Dysgenesis of the hippocampus	10126	DNAL4	ORPHA:238722
HP:0025101	Dysgenesis of the hippocampus	9423	NTN1	ORPHA:238722
HP:0025101	Dysgenesis of the hippocampus	1630	DCC	ORPHA:238722
HP:0025101	Dysgenesis of the hippocampus	56896	DPYSL5	OMIM:619435
HP:0025101	Dysgenesis of the hippocampus	6335	SCN9A	ORPHA:33069
HP:0025101	Dysgenesis of the hippocampus	6326	SCN2A	ORPHA:33069
HP:0025101	Dysgenesis of the hippocampus	2554	GABRA1	ORPHA:33069
HP:0025101	Dysgenesis of the hippocampus	6323	SCN1A	ORPHA:33069
HP:0025101	Dysgenesis of the hippocampus	6324	SCN1B	ORPHA:33069
HP:0025101	Dysgenesis of the hippocampus	57526	PCDH19	ORPHA:33069
HP:0025101	Dysgenesis of the hippocampus	2566	GABRG2	ORPHA:33069
HP:0025101	Dysgenesis of the hippocampus	23030	KDM4B	OMIM:619320
HP:0025102	Dysgenesis of the basal ganglia	7846	TUBA1A	ORPHA:171680
HP:0025102	Dysgenesis of the basal ganglia	157922	CAMSAP1	OMIM:620316
HP:0025102	Dysgenesis of the basal ganglia	347733	TUBB2B	ORPHA:300573
HP:0025102	Dysgenesis of the basal ganglia	203068	TUBB	OMIM:615771
HP:0025102	Dysgenesis of the basal ganglia	10381	TUBB3	OMIM:600638
HP:0025104	Capillary malformation	4920	ROR2	OMIM:268310
HP:0025104	Capillary malformation	4920	ROR2	ORPHA:1507
HP:0025104	Capillary malformation	22827	PUF60	ORPHA:508498
HP:0025104	Capillary malformation	80267	EDEM3	OMIM:619493
HP:0025104	Capillary malformation	1028	CDKN1C	OMIM:130650
HP:0025104	Capillary malformation	3481	IGF2	OMIM:130650
HP:0025104	Capillary malformation	3481	IGF2	ORPHA:231140
HP:0025104	Capillary malformation	3784	KCNQ1	OMIM:130650
HP:0025104	Capillary malformation	10984	KCNQ1OT1	OMIM:130650
HP:0025104	Capillary malformation	91754	NEK9	ORPHA:64754
HP:0025104	Capillary malformation	6804	STX1A	ORPHA:904
HP:0025104	Capillary malformation	7461	CLIP2	ORPHA:904
HP:0025104	Capillary malformation	84277	DNAJC30	ORPHA:904
HP:0025104	Capillary malformation	8468	FKBP6	ORPHA:904
HP:0025104	Capillary malformation	5982	RFC2	ORPHA:904
HP:0025104	Capillary malformation	2969	GTF2I	ORPHA:904
HP:0025104	Capillary malformation	3984	LIMK1	ORPHA:904
HP:0025104	Capillary malformation	9569	GTF2IRD1	ORPHA:904
HP:0025104	Capillary malformation	155382	VPS37D	ORPHA:904
HP:0025104	Capillary malformation	155368	METTL27	ORPHA:904
HP:0025104	Capillary malformation	114049	BUD23	ORPHA:904
HP:0025104	Capillary malformation	7458	EIF4H	ORPHA:904
HP:0025104	Capillary malformation	84163	GTF2IRD2	ORPHA:904
HP:0025104	Capillary malformation	26608	TBL2	ORPHA:904
HP:0025104	Capillary malformation	653361	NCF1	ORPHA:904
HP:0025104	Capillary malformation	135886	TMEM270	ORPHA:904
HP:0025104	Capillary malformation	9031	BAZ1B	ORPHA:904
HP:0025104	Capillary malformation	2006	ELN	ORPHA:904
HP:0025104	Capillary malformation	2260	FGFR1	ORPHA:2396
HP:0025104	Capillary malformation	3845	KRAS	ORPHA:2396
HP:0025104	Capillary malformation	64359	NXN	ORPHA:1507
HP:0025104	Capillary malformation	2776	GNAQ	OMIM:163000
HP:0025104	Capillary malformation	2776	GNAQ	ORPHA:624
HP:0025104	Capillary malformation	7474	WNT5A	OMIM:180700
HP:0025104	Capillary malformation	1855	DVL1	OMIM:180700
HP:0025104	Capillary malformation	283120	H19	ORPHA:231140
HP:0025104	Capillary malformation	171023	ASXL1	ORPHA:97297
HP:0025104	Capillary malformation	171023	ASXL1	OMIM:605039
HP:0025104	Capillary malformation	1836	SLC26A2	OMIM:222600
HP:0025104	Capillary malformation	7043	TGFB3	OMIM:615582
HP:0025104	Capillary malformation	26040	SETBP1	OMIM:616078
HP:0025104	Capillary malformation	4591	TRIM37	OMIM:253250
HP:0025104	Capillary malformation	171546	SPTSSA	OMIM:620416
HP:0025104	Capillary malformation	9126	SMC3	OMIM:610759
HP:0025104	Capillary malformation	81857	MED25	ORPHA:464738
HP:0025104	Capillary malformation	81857	MED25	OMIM:616449
HP:0025104	Capillary malformation	3930	LBR	OMIM:618019
HP:0025104	Capillary malformation	118924	FRA10AC1	OMIM:620113
HP:0025104	Capillary malformation	9939	RBM8A	ORPHA:3320
HP:0025104	Capillary malformation	9939	RBM8A	OMIM:274000
HP:0025104	Capillary malformation	5354	PLP1	ORPHA:280229
HP:0025104	Capillary malformation	8621	CDK13	OMIM:617360
HP:0025104	Capillary malformation	8558	CDK10	OMIM:617694
HP:0025104	Capillary malformation	1857	DVL3	ORPHA:3107
HP:0025104	Capillary malformation	2535	FZD2	ORPHA:3107
HP:0025104	Capillary malformation	129563	DIS3L2	ORPHA:2849
HP:0025104	Capillary malformation	55252	ASXL2	OMIM:617190
HP:0025104	Capillary malformation	5290	PIK3CA	OMIM:612918
HP:0025104	Capillary malformation	5290	PIK3CA	ORPHA:314662
HP:0025104	Capillary malformation	5290	PIK3CA	ORPHA:140944
HP:0025104	Capillary malformation	440275	EIF2AK4	ORPHA:199241
HP:0025104	Capillary malformation	10617	STAMBP	OMIM:614261
HP:0025104	Capillary malformation	2050	EPHB4	OMIM:618196
HP:0025104	Capillary malformation	2050	EPHB4	ORPHA:137667
HP:0025104	Capillary malformation	8260	NAA10	OMIM:300855
HP:0025104	Capillary malformation	8260	NAA10	ORPHA:276432
HP:0025104	Capillary malformation	2475	MTOR	ORPHA:457485
HP:0025104	Capillary malformation	5921	RASA1	ORPHA:137667
HP:0025104	Capillary malformation	5921	RASA1	ORPHA:90307
HP:0025104	Capillary malformation	5921	RASA1	OMIM:608354
HP:0025104	Capillary malformation	207	AKT1	ORPHA:744
HP:0025104	Capillary malformation	4763	NF1	ORPHA:97685
HP:0025104	Capillary malformation	4851	NOTCH1	OMIM:616028
HP:0025105	Nevus anemicus	4763	NF1	ORPHA:97685
HP:0025107	Cutis marmorata telangiectatica congenita	4851	NOTCH1	OMIM:616028
HP:0025109	Reduced red cell pyruvate kinase level	5313	PKLR	OMIM:266200
HP:0025109	Reduced red cell pyruvate kinase level	5313	PKLR	ORPHA:766
HP:0012822	Bilateral vocal cord paresis	667	DST	OMIM:614653
HP:0012823	Clinical modifier	80144	FRAS1	ORPHA:2052
HP:0012823	Clinical modifier	23426	GRIP1	ORPHA:2052
HP:0012823	Clinical modifier	55627	SMPD4	OMIM:618622
HP:0012823	Clinical modifier	2731	GLDC	OMIM:605899
HP:0012823	Clinical modifier	5395	PMS2	ORPHA:144
HP:0012823	Clinical modifier	5378	PMS1	ORPHA:144
HP:0012823	Clinical modifier	249	ALPL	OMIM:241500
HP:0012823	Clinical modifier	80816	ASXL3	OMIM:615485
HP:0012823	Clinical modifier	4056	LTC4S	OMIM:614037
HP:0012823	Clinical modifier	10084	PQBP1	ORPHA:93946
HP:0012823	Clinical modifier	429	ASCL1	ORPHA:99803
HP:0012823	Clinical modifier	3899	AFF3	OMIM:619297
HP:0012823	Clinical modifier	150094	SIK1	OMIM:616341
HP:0012823	Clinical modifier	55681	SCYL2	OMIM:618766
HP:0012823	Clinical modifier	10013	HDAC6	ORPHA:163966
HP:0012823	Clinical modifier	128674	PROKR2	ORPHA:95496
HP:0012823	Clinical modifier	89884	LHX4	ORPHA:95496
HP:0012823	Clinical modifier	8820	HESX1	ORPHA:95496
HP:0012823	Clinical modifier	23432	GPR161	ORPHA:95496
HP:0012823	Clinical modifier	9321	TRIP11	OMIM:184260
HP:0012823	Clinical modifier	9321	TRIP11	ORPHA:166272
HP:0012823	Clinical modifier	10436	EMG1	ORPHA:1270
HP:0012823	Clinical modifier	25802	LMOD1	ORPHA:2241
HP:0012823	Clinical modifier	4638	MYLK	ORPHA:2241
HP:0012823	Clinical modifier	2239	GPC4	ORPHA:373
HP:0012823	Clinical modifier	2719	GPC3	ORPHA:373
HP:0012823	Clinical modifier	54916	TMEM260	OMIM:617478
HP:0012823	Clinical modifier	51645	PPIL1	OMIM:619301
HP:0012823	Clinical modifier	56052	ALG1	OMIM:608540
HP:0012823	Clinical modifier	9488	PIGB	OMIM:618580
HP:0012823	Clinical modifier	5980	REV3L	ORPHA:570
HP:0012823	Clinical modifier	2917	GRM7	OMIM:618922
HP:0012823	Clinical modifier	197131	UBR1	ORPHA:2315
HP:0012823	Clinical modifier	4905	NSF	OMIM:619340
HP:0012823	Clinical modifier	2313	FLI1	ORPHA:2308
HP:0012823	Clinical modifier	8087	FXR1	OMIM:618822
HP:0012823	Clinical modifier	8567	MADD	OMIM:619004
HP:0012823	Clinical modifier	55278	QRSL1	OMIM:618835
HP:0012823	Clinical modifier	283459	GATC	OMIM:618839
HP:0012823	Clinical modifier	55191	NADSYN1	OMIM:618845
HP:0012823	Clinical modifier	10225	CD96	ORPHA:1308
HP:0012823	Clinical modifier	23529	CLCF1	ORPHA:1545
HP:0012823	Clinical modifier	9244	CRLF1	ORPHA:1545
HP:0012823	Clinical modifier	28952	CCDC22	ORPHA:7
HP:0012823	Clinical modifier	56896	DPYSL5	ORPHA:7
HP:0012823	Clinical modifier	9054	NFS1	OMIM:619386
HP:0012823	Clinical modifier	131377	KLHL40	OMIM:615348
HP:0012823	Clinical modifier	3651	PDX1	OMIM:260370
HP:0012823	Clinical modifier	3858	KRT10	OMIM:607602
HP:0012823	Clinical modifier	3858	KRT10	OMIM:620150
HP:0012823	Clinical modifier	3858	KRT10	OMIM:620707
HP:0012823	Clinical modifier	55703	POLR3B	OMIM:614381
HP:0012823	Clinical modifier	55703	POLR3B	OMIM:607694
HP:0012823	Clinical modifier	23019	CNOT1	OMIM:618500
HP:0012823	Clinical modifier	776	CACNA1D	OMIM:615474
HP:0012823	Clinical modifier	776	CACNA1D	OMIM:614896
HP:0012823	Clinical modifier	2304	FOXE1	OMIM:241850
HP:0012823	Clinical modifier	5913	RAPSN	OMIM:616326
HP:0012823	Clinical modifier	79827	CLMP	OMIM:615237
HP:0012823	Clinical modifier	4593	MUSK	OMIM:616325
HP:0012823	Clinical modifier	4593	MUSK	OMIM:208150
HP:0012823	Clinical modifier	8573	CASK	OMIM:300908
HP:0012823	Clinical modifier	2539	G6PD	OMIM:300908
HP:0012823	Clinical modifier	7299	TYR	OMIM:203100
HP:0012823	Clinical modifier	121391	KRT74	OMIM:194300
HP:0012823	Clinical modifier	121391	KRT74	OMIM:614929
HP:0012823	Clinical modifier	4897	NRCAM	OMIM:619833
HP:0012823	Clinical modifier	1134	CHRNA1	OMIM:608930
HP:0012823	Clinical modifier	91147	TMEM67	OMIM:602152
HP:0012823	Clinical modifier	91147	TMEM67	OMIM:216360
HP:0012823	Clinical modifier	10021	HCN4	OMIM:163800
HP:0012823	Clinical modifier	5932	RBBP8	OMIM:606744
HP:0012823	Clinical modifier	5932	RBBP8	OMIM:251255
HP:0012823	Clinical modifier	23498	HAAO	OMIM:617660
HP:0012823	Clinical modifier	9578	CDC42BPB	OMIM:619841
HP:0012823	Clinical modifier	1855	DVL1	OMIM:616331
HP:0012823	Clinical modifier	1855	DVL1	OMIM:180700
HP:0012823	Clinical modifier	8942	KYNU	OMIM:617661
HP:0012823	Clinical modifier	283489	CHAMP1	OMIM:616579
HP:0012823	Clinical modifier	1841	DTYMK	OMIM:619847
HP:0012823	Clinical modifier	478	ATP1A3	OMIM:619606
HP:0012823	Clinical modifier	2137	EXTL3	OMIM:617425
HP:0012823	Clinical modifier	166378	AFG2A	OMIM:616577
HP:0012823	Clinical modifier	27229	TUBGCP4	OMIM:616335
HP:0012823	Clinical modifier	341640	FREM2	OMIM:617666
HP:0012823	Clinical modifier	84936	ZFYVE19	OMIM:619849
HP:0012823	Clinical modifier	84466	MEGF10	OMIM:614399
HP:0012823	Clinical modifier	84466	MEGF10	OMIM:620249
HP:0012823	Clinical modifier	25790	CFAP45	OMIM:619608
HP:0012823	Clinical modifier	1288	COL4A6	OMIM:300914
HP:0012823	Clinical modifier	3149	HMGB3	OMIM:300915
HP:0012823	Clinical modifier	318	NUDT2	OMIM:619844
HP:0012823	Clinical modifier	84197	POMK	OMIM:615249
HP:0012823	Clinical modifier	16	AARS1	OMIM:616339
HP:0012823	Clinical modifier	57545	CC2D2A	OMIM:619845
HP:0012823	Clinical modifier	57545	CC2D2A	OMIM:619111
HP:0012823	Clinical modifier	51112	TRAPPC12	OMIM:617669
HP:0012823	Clinical modifier	3508	IGHMBP2	OMIM:604320
HP:0012823	Clinical modifier	57082	KNL1	OMIM:604321
HP:0012823	Clinical modifier	79693	YRDC	OMIM:619609
HP:0012823	Clinical modifier	2188	FANCF	OMIM:603467
HP:0012823	Clinical modifier	284403	WDR62	OMIM:604317
HP:0012823	Clinical modifier	90	ACVR1	OMIM:135100
HP:0012823	Clinical modifier	4646	MYO6	OMIM:607821
HP:0012823	Clinical modifier	9071	CLDN10	OMIM:617671
HP:0012823	Clinical modifier	1020	CDK5	OMIM:616342
HP:0012823	Clinical modifier	1777	DNASE2	OMIM:619858
HP:0012823	Clinical modifier	54567	DLL4	OMIM:616589
HP:0012823	Clinical modifier	64359	NXN	OMIM:618529
HP:0012823	Clinical modifier	7436	VLDLR	OMIM:224050
HP:0012823	Clinical modifier	84100	ARL6	OMIM:209900
HP:0012823	Clinical modifier	84100	ARL6	OMIM:600151
HP:0012823	Clinical modifier	79140	CCDC28B	OMIM:209900
HP:0012823	Clinical modifier	582	BBS1	OMIM:209900
HP:0012823	Clinical modifier	79029	AFG2B	OMIM:619615
HP:0012823	Clinical modifier	1528	CYB5A	OMIM:250790
HP:0012823	Clinical modifier	25778	DSTYK	OMIM:610805
HP:0012823	Clinical modifier	26154	ABCA12	OMIM:601277
HP:0012823	Clinical modifier	26154	ABCA12	OMIM:242500
HP:0012823	Clinical modifier	4620	MYH2	OMIM:605637
HP:0012823	Clinical modifier	9401	RECQL4	OMIM:218600
HP:0012823	Clinical modifier	857	CAV1	OMIM:606721
HP:0012823	Clinical modifier	84733	CBX2	OMIM:613080
HP:0012823	Clinical modifier	10484	SEC23A	OMIM:607812
HP:0012823	Clinical modifier	6926	TBX3	OMIM:181450
HP:0012823	Clinical modifier	204219	CERS3	OMIM:615023
HP:0012823	Clinical modifier	285848	PNPLA1	OMIM:615024
HP:0012823	Clinical modifier	23327	NEDD4L	OMIM:617201
HP:0012823	Clinical modifier	7092	TLL1	OMIM:613087
HP:0012823	Clinical modifier	8550	MAPKAPK5	OMIM:619869
HP:0012823	Clinical modifier	168507	PKD1L1	OMIM:617205
HP:0012823	Clinical modifier	51761	ATP8A2	OMIM:615268
HP:0012823	Clinical modifier	1474	CST6	OMIM:618535
HP:0012823	Clinical modifier	6905	TBCE	OMIM:617207
HP:0012823	Clinical modifier	6905	TBCE	OMIM:241410
HP:0012823	Clinical modifier	5373	PMM2	OMIM:212065
HP:0012823	Clinical modifier	63901	FAM111A	OMIM:602361
HP:0012823	Clinical modifier	63901	FAM111A	OMIM:127000
HP:0012823	Clinical modifier	54345	SOX18	OMIM:137940
HP:0012823	Clinical modifier	126410	CYP4F22	OMIM:604777
HP:0012823	Clinical modifier	5337	PLD1	OMIM:212093
HP:0012823	Clinical modifier	5317	PKP1	OMIM:604536
HP:0012823	Clinical modifier	57822	GRHL3	OMIM:606713
HP:0012823	Clinical modifier	59341	TRPV4	OMIM:600175
HP:0012823	Clinical modifier	59341	TRPV4	OMIM:606071
HP:0012823	Clinical modifier	1187	CLCNKA	OMIM:613090
HP:0012823	Clinical modifier	1188	CLCNKB	OMIM:613090
HP:0012823	Clinical modifier	1188	CLCNKB	OMIM:607364
HP:0012823	Clinical modifier	2072	ERCC4	OMIM:615272
HP:0012823	Clinical modifier	113612	CYP2U1	OMIM:615030
HP:0012823	Clinical modifier	1186	CLCN7	OMIM:618541
HP:0012823	Clinical modifier	1770	DNAH9	OMIM:618300
HP:0012823	Clinical modifier	4284	MIP	OMIM:615274
HP:0012823	Clinical modifier	23126	POGZ	OMIM:616364
HP:0012823	Clinical modifier	55773	TBC1D23	OMIM:617695
HP:0012823	Clinical modifier	5314	PKHD1	OMIM:263200
HP:0012823	Clinical modifier	8558	CDK10	OMIM:617694
HP:0012823	Clinical modifier	808	CALM3	OMIM:618782
HP:0012823	Clinical modifier	57167	SALL4	OMIM:147750
HP:0012823	Clinical modifier	57167	SALL4	OMIM:607323
HP:0012823	Clinical modifier	55280	CWF19L1	OMIM:616127
HP:0012823	Clinical modifier	27125	AFF4	OMIM:616368
HP:0012823	Clinical modifier	1909	EDNRA	OMIM:616367
HP:0012823	Clinical modifier	79770	TXNDC15	OMIM:619879
HP:0012823	Clinical modifier	5727	PTCH1	OMIM:610828
HP:0012823	Clinical modifier	10329	RXYLT1	OMIM:615041
HP:0012823	Clinical modifier	8818	DPM2	OMIM:615042
HP:0012823	Clinical modifier	30813	VSX1	OMIM:614195
HP:0012823	Clinical modifier	3913	LAMB2	OMIM:614199
HP:0012823	Clinical modifier	3913	LAMB2	OMIM:609049
HP:0012823	Clinical modifier	56098	PCDHGC4	OMIM:619880
HP:0012823	Clinical modifier	641	BLM	OMIM:210900
HP:0012823	Clinical modifier	2674	GFRA1	OMIM:619887
HP:0012823	Clinical modifier	2620	GAS2	OMIM:620877
HP:0012823	Clinical modifier	9772	TMEM94	OMIM:618316
HP:0012823	Clinical modifier	79971	WLS	OMIM:619648
HP:0012823	Clinical modifier	79728	PALB2	OMIM:610832
HP:0012823	Clinical modifier	57688	ZSWIM6	OMIM:603671
HP:0012823	Clinical modifier	1910	EDNRB	OMIM:600155
HP:0012823	Clinical modifier	1910	EDNRB	OMIM:600501
HP:0012823	Clinical modifier	3861	KRT14	OMIM:601001
HP:0012823	Clinical modifier	3861	KRT14	OMIM:131760
HP:0012823	Clinical modifier	442721	LMOD2	OMIM:619897
HP:0012823	Clinical modifier	3798	KIF5A	OMIM:617235
HP:0012823	Clinical modifier	23483	TGDS	OMIM:616145
HP:0012823	Clinical modifier	6603	SMARCD2	OMIM:617475
HP:0012823	Clinical modifier	285203	EOGT	OMIM:615297
HP:0012823	Clinical modifier	125988	MICOS13	OMIM:618329
HP:0012823	Clinical modifier	64919	BCL11B	OMIM:617237
HP:0012823	Clinical modifier	25836	NIPBL	OMIM:122470
HP:0012823	Clinical modifier	4087	SMAD2	OMIM:619656
HP:0012823	Clinical modifier	4087	SMAD2	OMIM:619657
HP:0012823	Clinical modifier	6533	SLC6A6	OMIM:145350
HP:0012823	Clinical modifier	2744	GLS	OMIM:618328
HP:0012823	Clinical modifier	4733	DRG1	OMIM:620641
HP:0012823	Clinical modifier	3339	HSPG2	OMIM:255800
HP:0012823	Clinical modifier	3339	HSPG2	OMIM:224410
HP:0012823	Clinical modifier	79648	MCPH1	OMIM:251200
HP:0012823	Clinical modifier	2200	FBN1	OMIM:184900
HP:0012823	Clinical modifier	81839	VANGL1	OMIM:600145
HP:0012823	Clinical modifier	2071	ERCC3	OMIM:616390
HP:0012823	Clinical modifier	85300	ATCAY	OMIM:601238
HP:0012823	Clinical modifier	404672	GTF2H5	OMIM:616395
HP:0012823	Clinical modifier	1917	EEF1A2	OMIM:616393
HP:0012823	Clinical modifier	9742	IFT140	OMIM:266920
HP:0012823	Clinical modifier	205327	C2orf69	OMIM:619423
HP:0012823	Clinical modifier	58497	PRUNE1	OMIM:617481
HP:0012823	Clinical modifier	54101	RIPK4	OMIM:263650
HP:0012823	Clinical modifier	9427	ECEL1	OMIM:615065
HP:0012823	Clinical modifier	5888	RAD51	OMIM:617244
HP:0012823	Clinical modifier	22930	RAB3GAP1	OMIM:619420
HP:0012823	Clinical modifier	4286	MITF	OMIM:103500
HP:0012823	Clinical modifier	4286	MITF	OMIM:617306
HP:0012823	Clinical modifier	4286	MITF	OMIM:193510
HP:0012823	Clinical modifier	7516	XRCC2	OMIM:617247
HP:0012823	Clinical modifier	7046	TGFBR1	OMIM:609192
HP:0012823	Clinical modifier	7286	TUFT1	OMIM:620415
HP:0012823	Clinical modifier	5908	RAP1B	OMIM:620654
HP:0012823	Clinical modifier	7227	TRPS1	OMIM:190351
HP:0012823	Clinical modifier	64132	XYLT2	OMIM:605822
HP:0012823	Clinical modifier	2074	ERCC6	OMIM:133540
HP:0012823	Clinical modifier	2074	ERCC6	OMIM:214150
HP:0012823	Clinical modifier	9361	LONP1	OMIM:600373
HP:0012823	Clinical modifier	2266	FGG	OMIM:202400
HP:0012823	Clinical modifier	2243	FGA	OMIM:202400
HP:0012823	Clinical modifier	2244	FGB	OMIM:202400
HP:0012823	Clinical modifier	6134	RPL10	OMIM:300998
HP:0012823	Clinical modifier	8925	HERC1	OMIM:617011
HP:0012823	Clinical modifier	1281	COL3A1	OMIM:618343
HP:0012823	Clinical modifier	10785	WDR4	OMIM:618346
HP:0012823	Clinical modifier	10046	MAMLD1	OMIM:300758
HP:0012823	Clinical modifier	72	ACTG2	OMIM:619431
HP:0012823	Clinical modifier	56203	LMOD3	OMIM:616165
HP:0012823	Clinical modifier	2495	FTH1	OMIM:620669
HP:0012823	Clinical modifier	79912	PYROXD1	OMIM:617258
HP:0012823	Clinical modifier	55505	NOP10	OMIM:620425
HP:0012823	Clinical modifier	1798	DPAGT1	OMIM:608093
HP:0012823	Clinical modifier	2653	GCSH	OMIM:620423
HP:0012823	Clinical modifier	90459	ERI1	OMIM:620663
HP:0012823	Clinical modifier	90459	ERI1	OMIM:620662
HP:0012823	Clinical modifier	5309	PITX3	OMIM:610623
HP:0012823	Clinical modifier	4838	NODAL	OMIM:270100
HP:0012823	Clinical modifier	100033413	SNORD116-1	OMIM:176270
HP:0012823	Clinical modifier	8924	HERC2	OMIM:176270
HP:0012823	Clinical modifier	23742	NPAP1	OMIM:176270
HP:0012823	Clinical modifier	338433	SNORD115-1	OMIM:176270
HP:0012823	Clinical modifier	54551	MAGEL2	OMIM:176270
HP:0012823	Clinical modifier	54551	MAGEL2	OMIM:615547
HP:0012823	Clinical modifier	7681	MKRN3	OMIM:176270
HP:0012823	Clinical modifier	145624	PWAR1	OMIM:176270
HP:0012823	Clinical modifier	3653	IPW	OMIM:176270
HP:0012823	Clinical modifier	791114	PWRN1	OMIM:176270
HP:0012823	Clinical modifier	56945	MRPS22	OMIM:611719
HP:0012823	Clinical modifier	2706	GJB2	OMIM:602540
HP:0012823	Clinical modifier	2706	GJB2	OMIM:149200
HP:0012823	Clinical modifier	5575	PRKAR1B	OMIM:619680
HP:0012823	Clinical modifier	10733	PLK4	OMIM:616171
HP:0012823	Clinical modifier	7707	ZNF148	OMIM:617260
HP:0012823	Clinical modifier	6299	SALL1	OMIM:107480
HP:0012823	Clinical modifier	3728	JUP	OMIM:601214
HP:0012823	Clinical modifier	6567	SLC16A2	OMIM:300523
HP:0012823	Clinical modifier	1294	COL7A1	OMIM:226600
HP:0012823	Clinical modifier	1294	COL7A1	OMIM:132000
HP:0012823	Clinical modifier	1294	COL7A1	OMIM:131750
HP:0012823	Clinical modifier	23395	LARS2	OMIM:617021
HP:0012823	Clinical modifier	283989	TSEN54	OMIM:225753
HP:0012823	Clinical modifier	283989	TSEN54	OMIM:610204
HP:0012823	Clinical modifier	283989	TSEN54	OMIM:277470
HP:0012823	Clinical modifier	116461	TSEN15	OMIM:617026
HP:0012823	Clinical modifier	55262	TRAPPC14	OMIM:618351
HP:0012823	Clinical modifier	114803	MYSM1	OMIM:618116
HP:0012823	Clinical modifier	5660	PSAP	OMIM:611721
HP:0012823	Clinical modifier	4041	LRP5	OMIM:259770
HP:0012823	Clinical modifier	25885	POLR1A	OMIM:620675
HP:0012823	Clinical modifier	25885	POLR1A	OMIM:616462
HP:0012823	Clinical modifier	29954	POMT2	OMIM:236670
HP:0012823	Clinical modifier	29954	POMT2	OMIM:613150
HP:0012823	Clinical modifier	29954	POMT2	OMIM:613156
HP:0012823	Clinical modifier	2218	FKTN	OMIM:236670
HP:0012823	Clinical modifier	10585	POMT1	OMIM:236670
HP:0012823	Clinical modifier	9215	LARGE1	OMIM:236670
HP:0012823	Clinical modifier	9215	LARGE1	OMIM:613154
HP:0012823	Clinical modifier	56975	FAM20C	OMIM:259775
HP:0012823	Clinical modifier	57190	SELENON	OMIM:602771
HP:0012823	Clinical modifier	55250	ELP2	OMIM:617270
HP:0012823	Clinical modifier	2735	GLI1	OMIM:618123
HP:0012823	Clinical modifier	8888	MCM3AP	OMIM:618124
HP:0012823	Clinical modifier	63925	ZNF335	OMIM:615095
HP:0012823	Clinical modifier	57007	ACKR3	OMIM:619215
HP:0012823	Clinical modifier	4998	ORC1	OMIM:224690
HP:0012823	Clinical modifier	1621	DBH	OMIM:223360
HP:0012823	Clinical modifier	4052	LTBP1	OMIM:619451
HP:0012823	Clinical modifier	7021	TFAP2B	OMIM:617035
HP:0012823	Clinical modifier	81788	NUAK2	OMIM:619452
HP:0012823	Clinical modifier	3643	INSR	OMIM:246200
HP:0012823	Clinical modifier	27341	RRP7A	OMIM:619453
HP:0012823	Clinical modifier	8120	AP3B2	OMIM:617276
HP:0012823	Clinical modifier	2019	EN1	OMIM:619218
HP:0012823	Clinical modifier	344167	FOXI3	OMIM:620444
HP:0012823	Clinical modifier	1009	CDH11	OMIM:211380
HP:0012823	Clinical modifier	1009	CDH11	OMIM:619736
HP:0012823	Clinical modifier	5077	PAX3	OMIM:148820
HP:0012823	Clinical modifier	4627	MYH9	OMIM:155100
HP:0012823	Clinical modifier	7401	CLRN1	OMIM:276902
HP:0012823	Clinical modifier	7809	BSND	OMIM:602522
HP:0012823	Clinical modifier	1277	COL1A1	OMIM:130060
HP:0012823	Clinical modifier	7086	TKT	OMIM:617044
HP:0012823	Clinical modifier	6390	SDHB	OMIM:619224
HP:0012823	Clinical modifier	2009	EML1	OMIM:600348
HP:0012823	Clinical modifier	11342	RNF13	OMIM:618379
HP:0012823	Clinical modifier	127833	SYT2	OMIM:619461
HP:0012823	Clinical modifier	84705	GTPBP3	OMIM:616198
HP:0012823	Clinical modifier	4613	MYCN	OMIM:164280
HP:0012823	Clinical modifier	4613	MYCN	OMIM:620748
HP:0012823	Clinical modifier	9971	NR1H4	OMIM:617049
HP:0012823	Clinical modifier	5332	PLCB4	OMIM:620458
HP:0012823	Clinical modifier	208	AKT2	OMIM:240900
HP:0012823	Clinical modifier	9734	HDAC9	OMIM:620457
HP:0012823	Clinical modifier	6811	STX5	OMIM:620454
HP:0012823	Clinical modifier	220296	HEPACAM	OMIM:613925
HP:0012823	Clinical modifier	220296	HEPACAM	OMIM:613926
HP:0012823	Clinical modifier	50801	KCNK4	OMIM:618381
HP:0012823	Clinical modifier	26160	IFT172	OMIM:619471
HP:0012823	Clinical modifier	4158	MC2R	OMIM:202200
HP:0012823	Clinical modifier	65250	CPLANE1	OMIM:277170
HP:0012823	Clinical modifier	8991	SELENBP1	OMIM:618148
HP:0012823	Clinical modifier	54800	KLHL24	OMIM:617294
HP:0012823	Clinical modifier	3914	LAMB3	OMIM:226650
HP:0012823	Clinical modifier	3914	LAMB3	OMIM:226700
HP:0012823	Clinical modifier	10526	IPO8	OMIM:619472
HP:0012823	Clinical modifier	348180	CTU2	OMIM:618142
HP:0012823	Clinical modifier	54539	NDUFB11	OMIM:300952
HP:0012823	Clinical modifier	54539	NDUFB11	OMIM:301021
HP:0012823	Clinical modifier	54539	NDUFB11	OMIM:309801
HP:0012823	Clinical modifier	7737	RNF113A	OMIM:300953
HP:0012823	Clinical modifier	92002	CCNQ	OMIM:300707
HP:0012823	Clinical modifier	79574	EPS8L3	OMIM:612841
HP:0012823	Clinical modifier	84196	USP48	OMIM:620227
HP:0012823	Clinical modifier	6608	SMO	OMIM:241800
HP:0012823	Clinical modifier	6608	SMO	OMIM:601707
HP:0012823	Clinical modifier	10413	YAP1	OMIM:120433
HP:0012823	Clinical modifier	2006	ELN	OMIM:123700
HP:0012823	Clinical modifier	3248	HPGD	OMIM:259100
HP:0012823	Clinical modifier	3248	HPGD	OMIM:119900
HP:0012823	Clinical modifier	6050	RNH1	OMIM:620461
HP:0012823	Clinical modifier	63895	PIEZO2	OMIM:108145
HP:0012823	Clinical modifier	63895	PIEZO2	OMIM:248700
HP:0012823	Clinical modifier	1412	CRYBA2	OMIM:115900
HP:0012823	Clinical modifier	25839	COG4	OMIM:618150
HP:0012823	Clinical modifier	4927	NUP88	OMIM:618393
HP:0012823	Clinical modifier	51360	MBTPS2	OMIM:308205
HP:0012823	Clinical modifier	3636	INPPL1	OMIM:258480
HP:0012823	Clinical modifier	9325	TRIP4	OMIM:617066
HP:0012823	Clinical modifier	9325	TRIP4	OMIM:616866
HP:0012823	Clinical modifier	6872	TAF1	OMIM:300966
HP:0012823	Clinical modifier	60558	GUF1	OMIM:617065
HP:0012823	Clinical modifier	2324	FLT4	OMIM:153100
HP:0012823	Clinical modifier	158326	FREM1	OMIM:248450
HP:0012823	Clinical modifier	8318	CDC45	OMIM:617063
HP:0012823	Clinical modifier	55640	FLVCR2	OMIM:225790
HP:0012823	Clinical modifier	23233	EXOC6B	OMIM:618395
HP:0012823	Clinical modifier	9508	ADAMTS3	OMIM:618154
HP:0012823	Clinical modifier	91875	TTC5	OMIM:619244
HP:0012823	Clinical modifier	84340	GFM2	OMIM:618397
HP:0012823	Clinical modifier	4617	MYF5	OMIM:618155
HP:0012823	Clinical modifier	134353	LSM11	OMIM:619486
HP:0012823	Clinical modifier	100127206	MINAR2	OMIM:620238
HP:0012823	Clinical modifier	57038	RARS2	OMIM:611523
HP:0012823	Clinical modifier	50485	SMARCAL1	OMIM:242900
HP:0012823	Clinical modifier	7341	SUMO1	OMIM:613705
HP:0012823	Clinical modifier	9573	GDF3	OMIM:613704
HP:0012823	Clinical modifier	10551	AGR2	OMIM:620233
HP:0012823	Clinical modifier	60	ACTB	OMIM:620475
HP:0012823	Clinical modifier	60	ACTB	OMIM:607371
HP:0012823	Clinical modifier	60386	SLC25A19	OMIM:607196
HP:0012823	Clinical modifier	3766	KCNJ10	OMIM:600791
HP:0012823	Clinical modifier	2299	FOXI1	OMIM:600791
HP:0012823	Clinical modifier	5172	SLC26A4	OMIM:600791
HP:0012823	Clinical modifier	23387	SIK3	OMIM:618162
HP:0012823	Clinical modifier	6748	SSR4	OMIM:300934
HP:0012823	Clinical modifier	51168	MYO15A	OMIM:600316
HP:0012823	Clinical modifier	84231	TRAF7	OMIM:618164
HP:0012823	Clinical modifier	5339	PLEC	OMIM:226670
HP:0012823	Clinical modifier	5339	PLEC	OMIM:226730
HP:0012823	Clinical modifier	26276	VPS33B	OMIM:620009
HP:0012823	Clinical modifier	26276	VPS33B	OMIM:208085
HP:0012823	Clinical modifier	1908	EDN3	OMIM:613712
HP:0012823	Clinical modifier	4094	MAF	OMIM:610202
HP:0012823	Clinical modifier	2668	GDNF	OMIM:613711
HP:0012823	Clinical modifier	1073	CFL2	OMIM:610687
HP:0012823	Clinical modifier	3110	MNX1	OMIM:176450
HP:0012823	Clinical modifier	253827	MSRB3	OMIM:613718
HP:0012823	Clinical modifier	6599	SMARCC1	OMIM:620241
HP:0012823	Clinical modifier	51082	POLR1D	OMIM:613717
HP:0012823	Clinical modifier	10079	ATP9A	OMIM:620242
HP:0012823	Clinical modifier	5795	PTPRJ	OMIM:620484
HP:0012823	Clinical modifier	7474	WNT5A	OMIM:180700
HP:0012823	Clinical modifier	7066	THPO	OMIM:620481
HP:0012823	Clinical modifier	54658	UGT1A1	OMIM:218800
HP:0012823	Clinical modifier	2296	FOXC1	OMIM:601631
HP:0012823	Clinical modifier	116150	NUS1	OMIM:617082
HP:0012823	Clinical modifier	1893	ECM1	OMIM:247100
HP:0012823	Clinical modifier	84842	HPDL	OMIM:619026
HP:0012823	Clinical modifier	79023	NUP37	OMIM:618179
HP:0012823	Clinical modifier	8516	ITGA8	OMIM:191830
HP:0012823	Clinical modifier	90121	TSR2	OMIM:300946
HP:0012823	Clinical modifier	51473	DCDC2	OMIM:610212
HP:0012823	Clinical modifier	4233	MET	OMIM:620019
HP:0012823	Clinical modifier	4233	MET	OMIM:607278
HP:0012823	Clinical modifier	1414	CRYBB1	OMIM:611544
HP:0012823	Clinical modifier	26123	TCTN3	OMIM:614815
HP:0012823	Clinical modifier	27445	PCLO	OMIM:608027
HP:0012823	Clinical modifier	29969	MDFIC	OMIM:620014
HP:0012823	Clinical modifier	3516	RBPJ	OMIM:614814
HP:0012823	Clinical modifier	80036	TRPM3	OMIM:620253
HP:0012823	Clinical modifier	65055	REEP1	OMIM:620011
HP:0012823	Clinical modifier	60529	ALX4	OMIM:609597
HP:0012823	Clinical modifier	60529	ALX4	OMIM:613451
HP:0012823	Clinical modifier	283450	HECTD4	OMIM:620250
HP:0012823	Clinical modifier	8085	KMT2D	OMIM:147920
HP:0012823	Clinical modifier	7403	KDM6A	OMIM:147920
HP:0012823	Clinical modifier	8323	FZD6	OMIM:161050
HP:0012823	Clinical modifier	5393	EXOSC9	OMIM:618065
HP:0012823	Clinical modifier	26128	KIFBP	OMIM:609460
HP:0012823	Clinical modifier	673	BRAF	OMIM:115150
HP:0012823	Clinical modifier	25821	MTO1	OMIM:614702
HP:0012823	Clinical modifier	57539	WDR35	OMIM:613610
HP:0012823	Clinical modifier	283310	OTOGL	OMIM:614944
HP:0012823	Clinical modifier	3848	KRT1	OMIM:620148
HP:0012823	Clinical modifier	3848	KRT1	OMIM:146590
HP:0012823	Clinical modifier	3848	KRT1	OMIM:600962
HP:0012823	Clinical modifier	340990	OTOG	OMIM:614945
HP:0012823	Clinical modifier	7138	TNNT1	OMIM:620386
HP:0012823	Clinical modifier	1411	CRYBA1	OMIM:600881
HP:0012823	Clinical modifier	64327	LMBR1	OMIM:190605
HP:0012823	Clinical modifier	57222	ERGIC1	OMIM:208100
HP:0012823	Clinical modifier	89910	UBE3B	OMIM:244450
HP:0012823	Clinical modifier	1638	DCT	OMIM:619165
HP:0012823	Clinical modifier	3664	IRF6	OMIM:119500
HP:0012823	Clinical modifier	3664	IRF6	OMIM:119300
HP:0012823	Clinical modifier	6662	SOX9	OMIM:114290
HP:0012823	Clinical modifier	26153	KIF26A	OMIM:620156
HP:0012823	Clinical modifier	271	AMPD2	OMIM:615809
HP:0012823	Clinical modifier	9382	COG1	OMIM:611209
HP:0012823	Clinical modifier	1763	DNA2	OMIM:615807
HP:0012823	Clinical modifier	7125	TNNC2	OMIM:620161
HP:0012823	Clinical modifier	388698	FLG2	OMIM:618084
HP:0012823	Clinical modifier	9241	NOG	OMIM:186570
HP:0012823	Clinical modifier	146862	UNC45B	OMIM:619178
HP:0012823	Clinical modifier	5119	CHMP1A	OMIM:614961
HP:0012823	Clinical modifier	84876	ORAI1	OMIM:612782
HP:0012823	Clinical modifier	220074	LRTOMT	OMIM:611451
HP:0012823	Clinical modifier	50814	NSDHL	OMIM:308050
HP:0012823	Clinical modifier	6261	RYR1	OMIM:255320
HP:0012823	Clinical modifier	1889	ECE1	OMIM:613870
HP:0012823	Clinical modifier	1801	DPH1	OMIM:616901
HP:0012823	Clinical modifier	93627	TBCK	OMIM:616900
HP:0012823	Clinical modifier	114034	TOE1	OMIM:614969
HP:0012823	Clinical modifier	1509	CTSD	OMIM:610127
HP:0012823	Clinical modifier	80254	CEP63	OMIM:614728
HP:0012823	Clinical modifier	9570	GOSR2	OMIM:620166
HP:0012823	Clinical modifier	80326	WNT10A	OMIM:257980
HP:0012823	Clinical modifier	51057	WDPCP	OMIM:217085
HP:0012823	Clinical modifier	10555	AGPAT2	OMIM:608594
HP:0012823	Clinical modifier	5313	PKLR	OMIM:266200
HP:0012823	Clinical modifier	1690	COCH	OMIM:618094
HP:0012823	Clinical modifier	9750	RIPOR2	OMIM:607017
HP:0012823	Clinical modifier	9750	RIPOR2	OMIM:616515
HP:0012823	Clinical modifier	84823	LMNB2	OMIM:619180
HP:0012823	Clinical modifier	6885	MAP3K7	OMIM:157800
HP:0012823	Clinical modifier	55148	UBR7	OMIM:619189
HP:0012823	Clinical modifier	79583	TMEM231	OMIM:614970
HP:0012823	Clinical modifier	79583	TMEM231	OMIM:615397
HP:0012823	Clinical modifier	23545	ATP6V0A2	OMIM:278250
HP:0012823	Clinical modifier	1954	MEGF8	OMIM:614976
HP:0012823	Clinical modifier	23314	SATB2	OMIM:612313
HP:0012823	Clinical modifier	79867	TCTN2	OMIM:613885
HP:0012823	Clinical modifier	79867	TCTN2	OMIM:616654
HP:0012823	Clinical modifier	55636	CHD7	OMIM:214800
HP:0012823	Clinical modifier	3070	HELLS	OMIM:616911
HP:0012823	Clinical modifier	51293	CD320	OMIM:613646
HP:0012823	Clinical modifier	83879	CDCA7	OMIM:616910
HP:0012823	Clinical modifier	25942	SIN3A	OMIM:613406
HP:0012823	Clinical modifier	79053	ALG8	OMIM:608104
HP:0012823	Clinical modifier	727857	BHLHA9	OMIM:609432
HP:0012823	Clinical modifier	727857	BHLHA9	OMIM:607539
HP:0012823	Clinical modifier	27245	AHDC1	OMIM:615829
HP:0012823	Clinical modifier	6234	RPS28	OMIM:606164
HP:0012823	Clinical modifier	699	BUB1	OMIM:620183
HP:0012823	Clinical modifier	9653	HS2ST1	OMIM:619194
HP:0012823	Clinical modifier	57217	TTC7A	OMIM:243150
HP:0012823	Clinical modifier	1280	COL2A1	OMIM:151210
HP:0012823	Clinical modifier	1280	COL2A1	OMIM:156550
HP:0012823	Clinical modifier	1280	COL2A1	OMIM:271700
HP:0012823	Clinical modifier	23118	TAB2	OMIM:614980
HP:0012823	Clinical modifier	56006	SMG9	OMIM:616920
HP:0012823	Clinical modifier	56006	SMG9	OMIM:619995
HP:0012823	Clinical modifier	3211	HOXB1	OMIM:614744
HP:0012823	Clinical modifier	25977	NECAP1	OMIM:615833
HP:0012823	Clinical modifier	84720	PIGO	OMIM:614749
HP:0012823	Clinical modifier	54499	TMCO1	OMIM:213980
HP:0012823	Clinical modifier	11128	POLR3A	OMIM:264090
HP:0012823	Clinical modifier	11128	POLR3A	OMIM:607694
HP:0012823	Clinical modifier	3675	ITGA3	OMIM:614748
HP:0012823	Clinical modifier	10907	TXNL4A	OMIM:608572
HP:0012823	Clinical modifier	2255	FGF10	OMIM:620193
HP:0012823	Clinical modifier	4036	LRP2	OMIM:222448
HP:0012823	Clinical modifier	492	ATP2B3	OMIM:302500
HP:0012823	Clinical modifier	64419	MTMR14	OMIM:160150
HP:0012823	Clinical modifier	1785	DNM2	OMIM:160150
HP:0012823	Clinical modifier	1785	DNM2	OMIM:615368
HP:0012823	Clinical modifier	153562	MARVELD2	OMIM:610153
HP:0012823	Clinical modifier	8481	OFD1	OMIM:311200
HP:0012823	Clinical modifier	8481	OFD1	OMIM:300804
HP:0012823	Clinical modifier	8481	OFD1	OMIM:300209
HP:0012823	Clinical modifier	64135	IFIH1	OMIM:615846
HP:0012823	Clinical modifier	3708	ITPR1	OMIM:117360
HP:0012823	Clinical modifier	3708	ITPR1	OMIM:206700
HP:0012823	Clinical modifier	6331	SCN5A	OMIM:608567
HP:0012823	Clinical modifier	2103	ESRRB	OMIM:608565
HP:0012823	Clinical modifier	2535	FZD2	OMIM:164745
HP:0012823	Clinical modifier	2652	OPN1MW	OMIM:303800
HP:0012823	Clinical modifier	6949	TCOF1	OMIM:154500
HP:0012823	Clinical modifier	10661	KLF1	OMIM:613673
HP:0012823	Clinical modifier	55835	CPAP	OMIM:613676
HP:0012823	Clinical modifier	55835	CPAP	OMIM:608393
HP:0012823	Clinical modifier	7048	TGFBR2	OMIM:610168
HP:0012823	Clinical modifier	1302	COL11A2	OMIM:614524
HP:0012823	Clinical modifier	1302	COL11A2	OMIM:215150
HP:0012823	Clinical modifier	3753	KCNE1	OMIM:612347
HP:0012823	Clinical modifier	10682	EBP	OMIM:302960
HP:0012823	Clinical modifier	7546	ZIC2	OMIM:609637
HP:0012823	Clinical modifier	171023	ASXL1	OMIM:605039
HP:0012823	Clinical modifier	79228	THOC6	OMIM:613680
HP:0012823	Clinical modifier	9276	COPB2	OMIM:617800
HP:0012823	Clinical modifier	2033	EP300	OMIM:613684
HP:0012823	Clinical modifier	2033	EP300	OMIM:180849
HP:0012823	Clinical modifier	84667	HES7	OMIM:613686
HP:0012823	Clinical modifier	3679	ITGA7	OMIM:613204
HP:0012823	Clinical modifier	220136	CFAP53	OMIM:614779
HP:0012823	Clinical modifier	7407	VARS1	OMIM:617802
HP:0012823	Clinical modifier	9894	TELO2	OMIM:616954
HP:0012823	Clinical modifier	4000	LMNA	OMIM:613205
HP:0012823	Clinical modifier	4000	LMNA	OMIM:619793
HP:0012823	Clinical modifier	8216	LZTR1	OMIM:605275
HP:0012823	Clinical modifier	80000	GREB1L	OMIM:617805
HP:0012823	Clinical modifier	80000	GREB1L	OMIM:619274
HP:0012823	Clinical modifier	5830	PEX5	OMIM:616716
HP:0012823	Clinical modifier	23592	LEMD3	OMIM:166700
HP:0012823	Clinical modifier	5080	PAX6	OMIM:106210
HP:0012823	Clinical modifier	7490	WT1	OMIM:106210
HP:0012823	Clinical modifier	7490	WT1	OMIM:608978
HP:0012823	Clinical modifier	8518	ELP1	OMIM:223900
HP:0012823	Clinical modifier	2261	FGFR3	OMIM:187600
HP:0012823	Clinical modifier	2261	FGFR3	OMIM:616482
HP:0012823	Clinical modifier	2261	FGFR3	OMIM:100800
HP:0012823	Clinical modifier	91949	COG7	OMIM:608779
HP:0012823	Clinical modifier	8243	SMC1A	OMIM:301044
HP:0012823	Clinical modifier	64116	SLC39A8	OMIM:616721
HP:0012823	Clinical modifier	1305	COL13A1	OMIM:616720
HP:0012823	Clinical modifier	23394	ADNP	OMIM:615873
HP:0012823	Clinical modifier	79848	CSPP1	OMIM:615636
HP:0012823	Clinical modifier	1788	DNMT3A	OMIM:615879
HP:0012823	Clinical modifier	10586	MAB21L2	OMIM:615877
HP:0012823	Clinical modifier	8763	CD164	OMIM:616969
HP:0012823	Clinical modifier	55593	OTUD5	OMIM:301056
HP:0012823	Clinical modifier	1837	DTNA	OMIM:604169
HP:0012823	Clinical modifier	4854	NOTCH3	OMIM:130720
HP:0012823	Clinical modifier	84162	BLTP1	OMIM:617822
HP:0012823	Clinical modifier	473	RERE	OMIM:616975
HP:0012823	Clinical modifier	10229	COQ7	OMIM:616733
HP:0012823	Clinical modifier	1806	DPYD	OMIM:274270
HP:0012823	Clinical modifier	1278	COL1A2	OMIM:617821
HP:0012823	Clinical modifier	1278	COL1A2	OMIM:619120
HP:0012823	Clinical modifier	4893	NRAS	OMIM:613224
HP:0012823	Clinical modifier	4893	NRAS	OMIM:137550
HP:0012823	Clinical modifier	83479	DDX59	OMIM:174300
HP:0012823	Clinical modifier	6334	SCN8A	OMIM:614558
HP:0012823	Clinical modifier	79644	SRD5A3	OMIM:612379
HP:0012823	Clinical modifier	79644	SRD5A3	OMIM:612713
HP:0012823	Clinical modifier	2162	F13A1	OMIM:613225
HP:0012823	Clinical modifier	3097	HIVEP2	OMIM:616977
HP:0012823	Clinical modifier	10982	MAPRE2	OMIM:616734
HP:0012823	Clinical modifier	767	CA8	OMIM:613227
HP:0012823	Clinical modifier	5048	PAFAH1B1	OMIM:607432
HP:0012823	Clinical modifier	1959	EGR2	OMIM:605253
HP:0012823	Clinical modifier	54820	NDE1	OMIM:605013
HP:0012823	Clinical modifier	54820	NDE1	OMIM:614019
HP:0012823	Clinical modifier	7547	ZIC3	OMIM:306955
HP:0012823	Clinical modifier	4810	NHS	OMIM:302350
HP:0012823	Clinical modifier	10735	STAG2	OMIM:301022
HP:0012823	Clinical modifier	55906	ZC4H2	OMIM:314580
HP:0012823	Clinical modifier	54885	TBC1D8B	OMIM:301028
HP:0012823	Clinical modifier	112802	KRT71	OMIM:615896
HP:0012823	Clinical modifier	388753	COA6	OMIM:616501
HP:0012823	Clinical modifier	493753	COA5	OMIM:616500
HP:0012823	Clinical modifier	2165	F13B	OMIM:613235
HP:0012823	Clinical modifier	4358	MPV17	OMIM:256810
HP:0012823	Clinical modifier	545	ATR	OMIM:614564
HP:0012823	Clinical modifier	80746	TSEN2	OMIM:612389
HP:0012823	Clinical modifier	284086	NEK8	OMIM:615415
HP:0012823	Clinical modifier	284086	NEK8	OMIM:620903
HP:0012823	Clinical modifier	4047	LSS	OMIM:616509
HP:0012823	Clinical modifier	4047	LSS	OMIM:618275
HP:0012823	Clinical modifier	4047	LSS	OMIM:618840
HP:0012823	Clinical modifier	259232	NALCN	OMIM:615419
HP:0012823	Clinical modifier	259232	NALCN	OMIM:616266
HP:0012823	Clinical modifier	55764	IFT122	OMIM:218330
HP:0012823	Clinical modifier	3784	KCNQ1	OMIM:220400
HP:0012823	Clinical modifier	7050	TGIF1	OMIM:142946
HP:0012823	Clinical modifier	5422	POLA1	OMIM:301030
HP:0012823	Clinical modifier	3479	IGF1	OMIM:608747
HP:0012823	Clinical modifier	25	ABL1	OMIM:617602
HP:0012823	Clinical modifier	5147	PDE6D	OMIM:615665
HP:0012823	Clinical modifier	57511	COG6	OMIM:614576
HP:0012823	Clinical modifier	57511	COG6	OMIM:615328
HP:0012823	Clinical modifier	2260	FGFR1	OMIM:613001
HP:0012823	Clinical modifier	2260	FGFR1	OMIM:190440
HP:0012823	Clinical modifier	128637	TBC1D20	OMIM:615663
HP:0012823	Clinical modifier	29980	DONSON	OMIM:617604
HP:0012823	Clinical modifier	29980	DONSON	OMIM:251230
HP:0012823	Clinical modifier	8195	MKKS	OMIM:605231
HP:0012823	Clinical modifier	64840	PORCN	OMIM:305600
HP:0012823	Clinical modifier	9997	SCO2	OMIM:604377
HP:0012823	Clinical modifier	200879	LIPH	OMIM:604379
HP:0012823	Clinical modifier	2703	GJA8	OMIM:116200
HP:0012823	Clinical modifier	26580	BSCL2	OMIM:269700
HP:0012823	Clinical modifier	8929	PHOX2B	OMIM:209880
HP:0012823	Clinical modifier	1103	CHAT	OMIM:254210
HP:0012823	Clinical modifier	1859	DYRK1A	OMIM:614104
HP:0012823	Clinical modifier	5333	PLCD1	OMIM:151600
HP:0012823	Clinical modifier	117581	TWIST2	OMIM:209885
HP:0012823	Clinical modifier	117581	TWIST2	OMIM:200110
HP:0012823	Clinical modifier	80781	COL18A1	OMIM:267750
HP:0012823	Clinical modifier	4148	MATN3	OMIM:608728
HP:0012823	Clinical modifier	286410	ATP11C	OMIM:301015
HP:0012823	Clinical modifier	3955	LFNG	OMIM:609813
HP:0012823	Clinical modifier	59344	ALOXE3	OMIM:606545
HP:0012823	Clinical modifier	59344	ALOXE3	OMIM:242100
HP:0012823	Clinical modifier	3265	HRAS	OMIM:137550
HP:0012823	Clinical modifier	1836	SLC26A2	OMIM:222600
HP:0012823	Clinical modifier	1836	SLC26A2	OMIM:600972
HP:0012823	Clinical modifier	55617	TASP1	OMIM:618950
HP:0012823	Clinical modifier	27031	NPHP3	OMIM:208540
HP:0012823	Clinical modifier	114928	GPRASP2	OMIM:301018
HP:0012823	Clinical modifier	3098	HK1	OMIM:235700
HP:0012823	Clinical modifier	491	ATP2B2	OMIM:619804
HP:0012823	Clinical modifier	80210	ARMC9	OMIM:617622
HP:0012823	Clinical modifier	2625	GATA3	OMIM:146255
HP:0012823	Clinical modifier	526	ATP6V1B2	OMIM:124480
HP:0012823	Clinical modifier	8292	COLQ	OMIM:603034
HP:0012823	Clinical modifier	617	BCS1L	OMIM:124000
HP:0012823	Clinical modifier	925	CD8A	OMIM:608957
HP:0012823	Clinical modifier	259266	ASPM	OMIM:608716
HP:0012823	Clinical modifier	153241	CEP120	OMIM:616300
HP:0012823	Clinical modifier	23247	KATNIP	OMIM:616784
HP:0012823	Clinical modifier	9786	KIAA0586	OMIM:616546
HP:0012823	Clinical modifier	4038	LRP4	OMIM:616304
HP:0012823	Clinical modifier	4038	LRP4	OMIM:212780
HP:0012823	Clinical modifier	10274	STAG1	OMIM:617635
HP:0012823	Clinical modifier	387	RHOA	OMIM:618727
HP:0012823	Clinical modifier	3691	ITGB4	OMIM:619816
HP:0012823	Clinical modifier	3691	ITGB4	OMIM:226730
HP:0012823	Clinical modifier	3655	ITGA6	OMIM:619817
HP:0012823	Clinical modifier	8777	MPDZ	OMIM:615219
HP:0012823	Clinical modifier	10383	TUBB4B	OMIM:617879
HP:0012823	Clinical modifier	81570	CLPB	OMIM:619813
HP:0012823	Clinical modifier	81570	CLPB	OMIM:616271
HP:0012823	Clinical modifier	9939	RBM8A	OMIM:274000
HP:0012823	Clinical modifier	5290	PIK3CA	OMIM:606773
HP:0012823	Clinical modifier	5290	PIK3CA	OMIM:612918
HP:0012823	Clinical modifier	5290	PIK3CA	OMIM:155500
HP:0012823	Clinical modifier	6496	SIX3	OMIM:157170
HP:0012823	Clinical modifier	6910	TBX5	OMIM:142900
HP:0012823	Clinical modifier	1832	DSP	OMIM:605676
HP:0012823	Clinical modifier	3908	LAMA2	OMIM:607855
HP:0012823	Clinical modifier	23288	IQCE	OMIM:617642
HP:0012823	Clinical modifier	1804	DPP6	OMIM:616311
HP:0012823	Clinical modifier	5699	PSMB10	OMIM:620807
HP:0012823	Clinical modifier	389207	GRXCR1	OMIM:613285
HP:0012823	Clinical modifier	57728	WDR19	OMIM:614378
HP:0012823	Clinical modifier	57728	WDR19	OMIM:614376
HP:0012823	Clinical modifier	51763	INPP5K	OMIM:617404
HP:0012823	Clinical modifier	7700	ZNF141	OMIM:615226
HP:0012823	Clinical modifier	1140	CHRNB1	OMIM:616314
HP:0012823	Clinical modifier	1140	CHRNB1	OMIM:616313
HP:0012823	Clinical modifier	523	ATP6V1A	OMIM:617403
HP:0012823	Clinical modifier	529	ATP6V1E1	OMIM:617402
HP:0012823	Clinical modifier	6155	RPL27	OMIM:617408
HP:0012823	Clinical modifier	498	ATP5F1A	OMIM:615228
HP:0012823	Clinical modifier	498	ATP5F1A	OMIM:616045
HP:0012823	Clinical modifier	255758	DYNLT2B	OMIM:617405
HP:0012823	Clinical modifier	9381	OTOF	OMIM:601071
HP:0012823	Clinical modifier	64699	TMPRSS3	OMIM:601072
HP:0012823	Clinical modifier	352909	DNAAF3	OMIM:606763
HP:0012823	Clinical modifier	246329	STAC3	OMIM:255995
HP:0012823	Clinical modifier	23141	ANKLE2	OMIM:616681
HP:0012823	Clinical modifier	10617	STAMBP	OMIM:614261
HP:0012823	Clinical modifier	29925	GMPPB	OMIM:615350
HP:0012823	Clinical modifier	29925	GMPPB	OMIM:615351
HP:0012823	Clinical modifier	29925	GMPPB	OMIM:615352
HP:0012823	Clinical modifier	9853	RUSC2	OMIM:617773
HP:0012823	Clinical modifier	91754	NEK9	OMIM:614262
HP:0012823	Clinical modifier	2132	EXT2	OMIM:616682
HP:0012823	Clinical modifier	3783	KCNN4	OMIM:616689
HP:0012823	Clinical modifier	3145	HMBS	OMIM:620704
HP:0012823	Clinical modifier	3145	HMBS	OMIM:620711
HP:0012823	Clinical modifier	8425	LTBP4	OMIM:613177
HP:0012823	Clinical modifier	220	ALDH1A3	OMIM:615113
HP:0012823	Clinical modifier	10054	UBA2	OMIM:619959
HP:0012823	Clinical modifier	2972	BRF1	OMIM:616202
HP:0012823	Clinical modifier	8710	SERPINB7	OMIM:615598
HP:0012823	Clinical modifier	6938	TCF12	OMIM:619718
HP:0012823	Clinical modifier	9231	DLG5	OMIM:620703
HP:0012823	Clinical modifier	81857	MED25	OMIM:616449
HP:0012823	Clinical modifier	3008	H1-4	OMIM:617537
HP:0012823	Clinical modifier	755	CFAP410	OMIM:602271
HP:0012823	Clinical modifier	10060	ABCC9	OMIM:619719
HP:0012823	Clinical modifier	3891	KRT85	OMIM:602032
HP:0012823	Clinical modifier	64220	STRA6	OMIM:601186
HP:0012823	Clinical modifier	6720	SREBF1	OMIM:158310
HP:0012823	Clinical modifier	7849	PAX8	OMIM:218700
HP:0012823	Clinical modifier	267010	RNU12	OMIM:603116
HP:0012823	Clinical modifier	10300	KATNB1	OMIM:616212
HP:0012823	Clinical modifier	6536	SLC6A9	OMIM:617301
HP:0012823	Clinical modifier	55159	RFWD3	OMIM:617784
HP:0012823	Clinical modifier	1630	DCC	OMIM:617542
HP:0012823	Clinical modifier	2050	EPHB4	OMIM:617300
HP:0012823	Clinical modifier	2201	FBN2	OMIM:121050
HP:0012823	Clinical modifier	84570	COL25A1	OMIM:616219
HP:0012823	Clinical modifier	4149	MAX	OMIM:620712
HP:0012823	Clinical modifier	10381	TUBB3	OMIM:614039
HP:0012823	Clinical modifier	28960	DCPS	OMIM:616459
HP:0012823	Clinical modifier	54332	GDAP1	OMIM:607706
HP:0012823	Clinical modifier	220202	ATOH7	OMIM:221900
HP:0012823	Clinical modifier	2626	GATA4	OMIM:607941
HP:0012823	Clinical modifier	2626	GATA4	OMIM:614429
HP:0012823	Clinical modifier	2626	GATA4	OMIM:614430
HP:0012823	Clinical modifier	2626	GATA4	OMIM:615542
HP:0012823	Clinical modifier	54	ACP5	OMIM:607944
HP:0012823	Clinical modifier	9289	ADGRG1	OMIM:606854
HP:0012823	Clinical modifier	55870	ASH1L	OMIM:617796
HP:0012823	Clinical modifier	9469	CHST3	OMIM:143095
HP:0012823	Clinical modifier	816	CAMK2B	OMIM:617799
HP:0012823	Clinical modifier	7528	YY1	OMIM:617557
HP:0012823	Clinical modifier	1292	COL6A2	OMIM:620727
HP:0012823	Clinical modifier	56172	ANKH	OMIM:123000
HP:0012823	Clinical modifier	9581	PREPL	OMIM:616224
HP:0012823	Clinical modifier	5426	POLE	OMIM:615139
HP:0012823	Clinical modifier	90993	CREB3L1	OMIM:616229
HP:0012823	Clinical modifier	170825	GSX2	OMIM:618646
HP:0012823	Clinical modifier	21	ABCA3	OMIM:610921
HP:0012823	Clinical modifier	8726	EED	OMIM:617561
HP:0012823	Clinical modifier	203286	ANKS6	OMIM:615382
HP:0012823	Clinical modifier	54968	TMEM70	OMIM:614052
HP:0012823	Clinical modifier	497661	C18orf32	OMIM:619985
HP:0012823	Clinical modifier	1301	COL11A1	OMIM:228520
HP:0012823	Clinical modifier	1301	COL11A1	OMIM:604841
HP:0012823	Clinical modifier	55714	TENM3	OMIM:615145
HP:0012823	Clinical modifier	84314	TMEM107	OMIM:617563
HP:0012823	Clinical modifier	269	AMHR2	OMIM:261550
HP:0012823	Clinical modifier	268	AMH	OMIM:261550
HP:0012823	Clinical modifier	1293	COL6A3	OMIM:620728
HP:0012823	Clinical modifier	56992	KIF15	OMIM:619981
HP:0012823	Clinical modifier	55012	PPP2R3C	OMIM:618419
HP:0012823	Clinical modifier	55521	TRIM36	OMIM:206500
HP:0012823	Clinical modifier	4632	MYL1	OMIM:618414
HP:0012823	Clinical modifier	200734	SPRED2	OMIM:619745
HP:0012823	Clinical modifier	7855	FZD5	OMIM:620731
HP:0012823	Clinical modifier	23268	DNMBP	OMIM:618415
HP:0012823	Clinical modifier	8642	DCHS1	OMIM:601390
HP:0012823	Clinical modifier	4647	MYO7A	OMIM:600060
HP:0012823	Clinical modifier	8241	RBM10	OMIM:311900
HP:0012823	Clinical modifier	6820	SULT2B1	OMIM:617571
HP:0012823	Clinical modifier	23312	DMXL2	OMIM:618663
HP:0012823	Clinical modifier	83861	RSPH3	OMIM:616481
HP:0012823	Clinical modifier	23262	PPIP5K2	OMIM:618422
HP:0012823	Clinical modifier	10717	AP4B1	OMIM:614066
HP:0012823	Clinical modifier	1349	COX7B	OMIM:309801
HP:0012823	Clinical modifier	3052	HCCS	OMIM:309801
HP:0012823	Clinical modifier	84879	MFSD2A	OMIM:616486
HP:0012823	Clinical modifier	51604	PIGT	OMIM:615398
HP:0012823	Clinical modifier	7862	BRPF1	OMIM:617333
HP:0012823	Clinical modifier	121214	SDR9C7	OMIM:617574
HP:0012823	Clinical modifier	54914	FOCAD	OMIM:619991
HP:0012823	Clinical modifier	55699	IARS2	OMIM:616007
HP:0012823	Clinical modifier	8363	H4C11	OMIM:619759
HP:0012823	Clinical modifier	1001	CDH3	OMIM:225280
HP:0012823	Clinical modifier	1001	CDH3	OMIM:601553
HP:0012823	Clinical modifier	9453	GGPS1	OMIM:619518
HP:0012823	Clinical modifier	11012	KLK11	OMIM:620507
HP:0012823	Clinical modifier	3481	IGF2	OMIM:616489
HP:0012823	Clinical modifier	6023	RMRP	OMIM:250250
HP:0012823	Clinical modifier	6023	RMRP	OMIM:607095
HP:0012823	Clinical modifier	9681	DEPDC5	OMIM:620504
HP:0012823	Clinical modifier	57282	SLC4A10	OMIM:620746
HP:0012823	Clinical modifier	9841	ZBTB24	OMIM:614069
HP:0012823	Clinical modifier	8364	H4C3	OMIM:619758
HP:0012823	Clinical modifier	145258	GSC	OMIM:602471
HP:0012823	Clinical modifier	2248	FGF3	OMIM:610706
HP:0012823	Clinical modifier	26137	ZBTB20	OMIM:259050
HP:0012823	Clinical modifier	8314	BAP1	OMIM:619762
HP:0012823	Clinical modifier	388552	BLOC1S3	OMIM:614077
HP:0012823	Clinical modifier	54928	BPNT2	OMIM:614078
HP:0012823	Clinical modifier	51098	IFT52	OMIM:617102
HP:0012823	Clinical modifier	79803	HPS6	OMIM:614075
HP:0012823	Clinical modifier	53335	BCL11A	OMIM:617101
HP:0012823	Clinical modifier	9158	FIBP	OMIM:617107
HP:0012823	Clinical modifier	773	CACNA1A	OMIM:617106
HP:0012823	Clinical modifier	10020	GNE	OMIM:620757
HP:0012823	Clinical modifier	7140	TNNT3	OMIM:618435
HP:0012823	Clinical modifier	4763	NF1	OMIM:193520
HP:0012823	Clinical modifier	2542	SLC37A4	OMIM:619525
HP:0012823	Clinical modifier	6117	RPA1	OMIM:619767
HP:0012823	Clinical modifier	57466	SCAF4	OMIM:620511
HP:0012823	Clinical modifier	51341	ZBTB7A	OMIM:619769
HP:0012823	Clinical modifier	2316	FLNA	OMIM:304120
HP:0012823	Clinical modifier	57724	EPG5	OMIM:242840
HP:0012823	Clinical modifier	147409	DSG4	OMIM:607903
HP:0012823	Clinical modifier	4621	MYH3	OMIM:178110
HP:0012823	Clinical modifier	4621	MYH3	OMIM:193700
HP:0012823	Clinical modifier	51651	PTRH2	OMIM:616263
HP:0012823	Clinical modifier	55120	FANCL	OMIM:614083
HP:0012823	Clinical modifier	79989	IFT56	OMIM:619534
HP:0012823	Clinical modifier	339855	KY	OMIM:617114
HP:0012823	Clinical modifier	57479	PRR12	OMIM:619539
HP:0012823	Clinical modifier	5818	NECTIN1	OMIM:225060
HP:0012823	Clinical modifier	4851	NOTCH1	OMIM:616028
HP:0012823	Clinical modifier	7994	KAT6A	OMIM:616268
HP:0012823	Clinical modifier	85459	CEP295	OMIM:620767
HP:0012823	Clinical modifier	23189	KANK1	OMIM:612900
HP:0012823	Clinical modifier	10195	ALG3	OMIM:601110
HP:0012823	Clinical modifier	3730	ANOS1	OMIM:308700
HP:0012823	Clinical modifier	148789	B3GALNT2	OMIM:615181
HP:0012823	Clinical modifier	3845	KRAS	OMIM:600268
HP:0012823	Clinical modifier	3845	KRAS	OMIM:609942
HP:0012823	Clinical modifier	54903	MKS1	OMIM:617121
HP:0012823	Clinical modifier	3909	LAMA3	OMIM:619784
HP:0012823	Clinical modifier	3909	LAMA3	OMIM:619783
HP:0012823	Clinical modifier	3909	LAMA3	OMIM:226700
HP:0012823	Clinical modifier	57505	AARS2	OMIM:614096
HP:0012823	Clinical modifier	3918	LAMC2	OMIM:619785
HP:0012823	Clinical modifier	3918	LAMC2	OMIM:619786
HP:0012823	Clinical modifier	3918	LAMC2	OMIM:226700
HP:0012823	Clinical modifier	51362	CDC40	OMIM:619302
HP:0012823	Clinical modifier	8621	CDK13	OMIM:617360
HP:0012823	Clinical modifier	1308	COL17A1	OMIM:619787
HP:0012823	Clinical modifier	1419	CRYGB	OMIM:615188
HP:0012823	Clinical modifier	1892	ECHS1	OMIM:616277
HP:0012823	Clinical modifier	51117	COQ4	OMIM:616276
HP:0012823	Clinical modifier	3763	KCNJ6	OMIM:614098
HP:0012823	Clinical modifier	5587	PRKD1	OMIM:617364
HP:0012823	Clinical modifier	93587	TRMT10A	OMIM:616033
HP:0012823	Clinical modifier	9533	POLR1C	OMIM:248390
HP:0012823	Clinical modifier	120766137	HRURF	OMIM:146550
HP:0012823	Clinical modifier	29968	PSAT1	OMIM:616038
HP:0012823	Clinical modifier	221078	NSUN6	OMIM:620779
HP:0012823	Clinical modifier	9851	KIAA0753	OMIM:617127
HP:0012823	Clinical modifier	6709	SPTAN1	OMIM:620538
HP:0012823	Clinical modifier	6709	SPTAN1	OMIM:620540
HP:0012823	Clinical modifier	115948	ODAD3	OMIM:616037
HP:0012823	Clinical modifier	11338	U2AF2	OMIM:620535
HP:0012823	Clinical modifier	55770	EXOC2	OMIM:619306
HP:0012823	Clinical modifier	27145	FILIP1	OMIM:620775
HP:0012823	Clinical modifier	7080	NKX2-1	OMIM:610978
HP:0012823	Clinical modifier	8504	PEX3	OMIM:617370
HP:0012823	Clinical modifier	5898	RALA	OMIM:619311
HP:0012823	Clinical modifier	79876	UBA5	OMIM:617132
HP:0012823	Clinical modifier	367	AR	OMIM:300633
HP:0012823	Clinical modifier	6909	TBX2	OMIM:618223
HP:0012823	Clinical modifier	51422	PRKAG2	OMIM:261740
HP:0012823	Clinical modifier	3852	KRT5	OMIM:619555
HP:0012823	Clinical modifier	3852	KRT5	OMIM:619588
HP:0012823	Clinical modifier	3852	KRT5	OMIM:619599
HP:0012823	Clinical modifier	3852	KRT5	OMIM:619594
HP:0012823	Clinical modifier	3852	KRT5	OMIM:131760
HP:0012823	Clinical modifier	3852	KRT5	OMIM:131960
HP:0012823	Clinical modifier	6477	SIAH1	OMIM:619314
HP:0012823	Clinical modifier	54892	NCAPG2	OMIM:618460
HP:0012823	Clinical modifier	112	ADCY6	OMIM:616287
HP:0012823	Clinical modifier	85476	GFM1	OMIM:609060
HP:0012823	Clinical modifier	6091	ROBO1	OMIM:620305
HP:0012823	Clinical modifier	2355	FOSL2	OMIM:620789
HP:0012823	Clinical modifier	170689	ADAMTS15	OMIM:620545
HP:0012823	Clinical modifier	6650	CAPN15	OMIM:619318
HP:0012823	Clinical modifier	4076	CAPRIN1	OMIM:620782
HP:0012823	Clinical modifier	11267	SNF8	OMIM:620783
HP:0012823	Clinical modifier	2202	EFEMP1	OMIM:620780
HP:0012823	Clinical modifier	23384	SPECC1L	OMIM:600251
HP:0012823	Clinical modifier	23384	SPECC1L	OMIM:145420
HP:0012823	Clinical modifier	170302	ARX	OMIM:308350
HP:0012823	Clinical modifier	60482	SLC5A7	OMIM:617143
HP:0012823	Clinical modifier	1436	CSF1R	OMIM:618476
HP:0012823	Clinical modifier	54765	TRIM44	OMIM:617142
HP:0012823	Clinical modifier	26610	ELP4	OMIM:617141
HP:0012823	Clinical modifier	55215	FANCI	OMIM:609053
HP:0012823	Clinical modifier	7453	WARS1	OMIM:620317
HP:0012823	Clinical modifier	29078	NDUFAF4	OMIM:618237
HP:0012823	Clinical modifier	4081	MAB21L1	OMIM:618479
HP:0012823	Clinical modifier	8312	AXIN1	OMIM:620558
HP:0012823	Clinical modifier	2068	ERCC2	OMIM:610756
HP:0012823	Clinical modifier	165829	GPR156	OMIM:620551
HP:0012823	Clinical modifier	10073	SNUPN	OMIM:620793
HP:0012823	Clinical modifier	7846	TUBA1A	OMIM:611603
HP:0012823	Clinical modifier	93035	PKHD1L1	OMIM:620794
HP:0012823	Clinical modifier	2067	ERCC1	OMIM:610758
HP:0012823	Clinical modifier	9179	AP4M1	OMIM:612936
HP:0012823	Clinical modifier	79068	FTO	OMIM:612938
HP:0012823	Clinical modifier	8626	TP63	OMIM:106260
HP:0012823	Clinical modifier	8626	TP63	OMIM:604292
HP:0012823	Clinical modifier	124842	TMEM132E	OMIM:618481
HP:0012823	Clinical modifier	25929	GEMIN5	OMIM:619333
HP:0012823	Clinical modifier	10940	POP1	OMIM:617396
HP:0012823	Clinical modifier	2530	FUT8	OMIM:618005
HP:0012823	Clinical modifier	1956	EGFR	OMIM:616069
HP:0012823	Clinical modifier	55572	FOXRED1	OMIM:618241
HP:0012823	Clinical modifier	54496	PRMT7	OMIM:617157
HP:0012823	Clinical modifier	165	AEBP1	OMIM:618000
HP:0012823	Clinical modifier	23414	ZFPM2	OMIM:616067
HP:0012823	Clinical modifier	182	JAG1	OMIM:619574
HP:0012823	Clinical modifier	182	JAG1	OMIM:617992
HP:0012823	Clinical modifier	7169	TPM2	OMIM:609285
HP:0012823	Clinical modifier	23229	ARHGEF9	OMIM:300607
HP:0012823	Clinical modifier	57096	RPGRIP1	OMIM:608194
HP:0012823	Clinical modifier	57096	RPGRIP1	OMIM:613826
HP:0012823	Clinical modifier	23476	BRD4	OMIM:620568
HP:0012823	Clinical modifier	400569	MED11	OMIM:620327
HP:0012823	Clinical modifier	1147	CHUK	OMIM:619339
HP:0012823	Clinical modifier	92344	GORAB	OMIM:231070
HP:0012823	Clinical modifier	6491	STIL	OMIM:612703
HP:0012823	Clinical modifier	22845	DOLK	OMIM:610768
HP:0012823	Clinical modifier	8604	SLC25A12	OMIM:612949
HP:0012823	Clinical modifier	6768	ST14	OMIM:602400
HP:0012823	Clinical modifier	9509	ADAMTS2	OMIM:225410
HP:0012823	Clinical modifier	10524	KAT5	OMIM:619103
HP:0012823	Clinical modifier	372	ARCN1	OMIM:617164
HP:0012823	Clinical modifier	285600	KIAA0825	OMIM:618498
HP:0012823	Clinical modifier	3977	LIFR	OMIM:601559
HP:0012823	Clinical modifier	80173	IFT74	OMIM:619582
HP:0012823	Clinical modifier	5277	PIGA	OMIM:300868
HP:0012823	Clinical modifier	1822	ATN1	OMIM:618494
HP:0012823	Clinical modifier	4700	NDUFA6	OMIM:618253
HP:0012823	Clinical modifier	84896	ATAD1	OMIM:618011
HP:0012823	Clinical modifier	115399	LRRC56	OMIM:618254
HP:0012823	Clinical modifier	5000	ORC4	OMIM:613800
HP:0012823	Clinical modifier	84668	HYCC1	OMIM:610532
HP:0012823	Clinical modifier	3930	LBR	OMIM:618019
HP:0012823	Clinical modifier	25939	SAMHD1	OMIM:612952
HP:0012823	Clinical modifier	2683	B4GALT1	OMIM:607091
HP:0012823	Clinical modifier	4990	SIX6	OMIM:206900
HP:0012823	Clinical modifier	4990	SIX6	OMIM:212550
HP:0012823	Clinical modifier	6657	SOX2	OMIM:206900
HP:0012823	Clinical modifier	81620	CDT1	OMIM:613804
HP:0012823	Clinical modifier	412	STS	OMIM:308100
HP:0012823	Clinical modifier	23594	ORC6	OMIM:613803
HP:0012823	Clinical modifier	990	CDC6	OMIM:613805
HP:0012823	Clinical modifier	339829	CCDC39	OMIM:613807
HP:0012823	Clinical modifier	1021	CDK6	OMIM:616080
HP:0012823	Clinical modifier	5281	PIGF	OMIM:619356
HP:0012823	Clinical modifier	29895	MYL11	OMIM:619110
HP:0012823	Clinical modifier	340419	RSPO2	OMIM:618021
HP:0012823	Clinical modifier	5530	PPP3CA	OMIM:618265
HP:0012823	Clinical modifier	5530	PPP3CA	OMIM:617711
HP:0012823	Clinical modifier	5702	PSMC3	OMIM:619354
HP:0012823	Clinical modifier	1387	CREBBP	OMIM:180849
HP:0012823	Clinical modifier	25861	WHRN	OMIM:607084
HP:0012823	Clinical modifier	25861	WHRN	OMIM:611383
HP:0012823	Clinical modifier	79005	SCNM1	OMIM:620107
HP:0012823	Clinical modifier	50846	DHH	OMIM:607080
HP:0012823	Clinical modifier	10283	CWC27	OMIM:250410
HP:0012823	Clinical modifier	7168	TPM1	OMIM:611878
HP:0012823	Clinical modifier	51684	SUFU	OMIM:620343
HP:0012823	Clinical modifier	51684	SUFU	OMIM:617757
HP:0012823	Clinical modifier	8204	NRIP1	OMIM:618270
HP:0012823	Clinical modifier	23405	DICER1	OMIM:618272
HP:0012823	Clinical modifier	113189	CHST14	OMIM:601776
HP:0012823	Clinical modifier	2077	ERF	OMIM:617180
HP:0012823	Clinical modifier	90522	YIF1B	OMIM:619125
HP:0012823	Clinical modifier	291	SLC25A4	OMIM:617184
HP:0012823	Clinical modifier	55755	CDK5RAP2	OMIM:604804
HP:0012823	Clinical modifier	6472	SHMT2	OMIM:619121
HP:0012823	Clinical modifier	10220	GDF11	OMIM:619122
HP:0012823	Clinical modifier	90416	CCDC32	OMIM:619123
HP:0012823	Clinical modifier	23287	AGTPBP1	OMIM:618276
HP:0012823	Clinical modifier	10161	LPAR6	OMIM:278150
HP:0012823	Clinical modifier	64093	SMOC1	OMIM:206920
HP:0012823	Clinical modifier	22995	CEP152	OMIM:613823
HP:0012823	Clinical modifier	4604	MYBPC1	OMIM:614915
HP:0012823	Clinical modifier	60681	FKBP10	OMIM:259450
HP:0012823	Clinical modifier	6329	SCN4A	OMIM:620351
HP:0012823	Clinical modifier	6329	SCN4A	OMIM:620369
HP:0012823	Clinical modifier	9759	HDAC4	OMIM:600430
HP:0012823	Clinical modifier	55252	ASXL2	OMIM:617190
HP:0012823	Clinical modifier	4140	MARK3	OMIM:618283
HP:0012823	Clinical modifier	342035	GLDN	OMIM:617194
HP:0012823	Clinical modifier	6904	TBCD	OMIM:617193
HP:0012823	Clinical modifier	57020	VPS35L	OMIM:619135
HP:0012823	Clinical modifier	2176	FANCC	OMIM:227645
HP:0012823	Clinical modifier	7390	UROS	OMIM:263700
HP:0012823	Clinical modifier	51371	POMP	OMIM:618048
HP:0012823	Clinical modifier	3739	KCNA4	OMIM:618284
HP:0012823	Clinical modifier	1984	EIF5A	OMIM:619376
HP:0012823	Clinical modifier	210	ALAD	OMIM:612740
HP:0012823	Clinical modifier	55005	RMND1	OMIM:614922
HP:0012823	Clinical modifier	5479	PPIB	OMIM:259440
HP:0012823	Clinical modifier	59	ACTA2	OMIM:613834
HP:0012823	Clinical modifier	5076	PAX2	OMIM:120330
HP:0012823	Clinical modifier	224	ALDH3A2	OMIM:270200
HP:0012823	Clinical modifier	23299	BICD2	OMIM:618291
HP:0012823	Clinical modifier	11011	TLK2	OMIM:618050
HP:0012823	Clinical modifier	57538	ALPK3	OMIM:618052
HP:0012823	Clinical modifier	3735	KARS1	OMIM:619147
HP:0012823	Clinical modifier	5566	PRKACA	OMIM:619142
HP:0012823	Clinical modifier	8665	EIF3F	OMIM:618295
HP:0012823	Clinical modifier	5567	PRKACB	OMIM:619143
HP:0012823	Clinical modifier	146059	CDAN1	OMIM:224120
HP:0012823	Clinical modifier	132001	TAMM41	OMIM:620139
HP:0012823	Clinical modifier	8823	FGF16	OMIM:309630
HP:0012823	Clinical modifier	7287	TULP1	OMIM:613843
HP:0012823	Clinical modifier	3229	HOXC13	OMIM:614931
HP:0012823	Clinical modifier	8517	IKBKG	OMIM:308300
HP:0012823	Clinical modifier	3480	IGF1R	OMIM:270450
HP:0012823	Clinical modifier	3476	IGBP1	OMIM:300472
HP:0012823	Clinical modifier	11113	CIT	OMIM:617090
HP:0012823	Clinical modifier	4359	MPZ	OMIM:618184
HP:0012823	Clinical modifier	84189	SLITRK6	OMIM:221200
HP:0012823	Clinical modifier	10128	LRPPRC	OMIM:220111
HP:0012823	Clinical modifier	10134	BCAP31	OMIM:300475
HP:0012823	Clinical modifier	158	ADSL	OMIM:103050
HP:0012823	Clinical modifier	10262	SF3B4	OMIM:154400
HP:0012823	Clinical modifier	8506	CNTNAP1	OMIM:618186
HP:0012823	Clinical modifier	55503	TRPV6	OMIM:618188
HP:0012823	Clinical modifier	83700	JAM3	OMIM:613730
HP:0012823	Clinical modifier	4091	SMAD6	OMIM:614823
HP:0012823	Clinical modifier	55624	POMGNT1	OMIM:253280
HP:0012823	Clinical modifier	55624	POMGNT1	OMIM:613151
HP:0012823	Clinical modifier	10992	SF3B2	OMIM:164210
HP:0012823	Clinical modifier	3048	HBG2	OMIM:613977
HP:0012823	Clinical modifier	58	ACTA1	OMIM:620265
HP:0012823	Clinical modifier	58	ACTA1	OMIM:620278
HP:0012823	Clinical modifier	8496	PPFIBP1	OMIM:620024
HP:0012823	Clinical modifier	4867	NPHP1	OMIM:609583
HP:0012823	Clinical modifier	80222	TARS2	OMIM:615918
HP:0012823	Clinical modifier	6840	SVIL	OMIM:619040
HP:0012823	Clinical modifier	3239	HOXD13	OMIM:186000
HP:0012823	Clinical modifier	4281	MID1	OMIM:300000
HP:0012823	Clinical modifier	8443	GNPAT	OMIM:222765
HP:0012823	Clinical modifier	162	AP1B1	OMIM:242150
HP:0012823	Clinical modifier	6335	SCN9A	OMIM:243000
HP:0012823	Clinical modifier	4649	MYO9A	OMIM:618198
HP:0012823	Clinical modifier	23322	RPGRIP1L	OMIM:611561
HP:0012823	Clinical modifier	84892	POMGNT2	OMIM:614830
HP:0012823	Clinical modifier	4882	NPR2	OMIM:615923
HP:0012823	Clinical modifier	23431	AP4E1	OMIM:613744
HP:0012823	Clinical modifier	4868	NPHS1	OMIM:256300
HP:0012823	Clinical modifier	5298	PI4KB	OMIM:620281
HP:0012823	Clinical modifier	7298	TYMS	OMIM:620040
HP:0012823	Clinical modifier	274	BIN1	OMIM:255200
HP:0012823	Clinical modifier	93	ACVR2B	OMIM:613751
HP:0012823	Clinical modifier	10015	PDCD6IP	OMIM:620047
HP:0012823	Clinical modifier	894	CCND2	OMIM:615938
HP:0012823	Clinical modifier	7841	MOGS	OMIM:606056
HP:0012823	Clinical modifier	7840	ALMS1	OMIM:203800
HP:0012823	Clinical modifier	55107	ANO1	OMIM:620045
HP:0012823	Clinical modifier	8546	AP3B1	OMIM:608233
HP:0012823	Clinical modifier	2317	FLNB	OMIM:108720
HP:0012823	Clinical modifier	474	ATOH1	OMIM:620284
HP:0012823	Clinical modifier	22	ABCB7	OMIM:301310
HP:0012823	Clinical modifier	1339	COX6A2	OMIM:619062
HP:0012823	Clinical modifier	1717	DHCR7	OMIM:270400
HP:0012823	Clinical modifier	9377	COX5A	OMIM:619064
HP:0012823	Clinical modifier	860	RUNX2	OMIM:119600
HP:0012823	Clinical modifier	4212	MEIS2	OMIM:600987
HP:0012823	Clinical modifier	4697	NDUFA4	OMIM:619065
HP:0012823	Clinical modifier	5167	ENPP1	OMIM:208000
HP:0012823	Clinical modifier	5167	ENPP1	OMIM:615522
HP:0012823	Clinical modifier	51199	NIN	OMIM:614851
HP:0012823	Clinical modifier	1410	CRYAB	OMIM:613763
HP:0012823	Clinical modifier	6663	SOX10	OMIM:611584
HP:0012823	Clinical modifier	5144	PDE4D	OMIM:614613
HP:0012823	Clinical modifier	161497	STRC	OMIM:611102
HP:0012823	Clinical modifier	117155	CATSPER2	OMIM:611102
HP:0012823	Clinical modifier	649	BMP1	OMIM:614856
HP:0012823	Clinical modifier	2301	FOXE3	OMIM:610256
HP:0012823	Clinical modifier	51021	MRPS16	OMIM:610498
HP:0012823	Clinical modifier	57465	TBC1D24	OMIM:614617
HP:0012823	Clinical modifier	57465	TBC1D24	OMIM:220500
HP:0012823	Clinical modifier	26005	C2CD3	OMIM:615948
HP:0012823	Clinical modifier	1906	EDN1	OMIM:615706
HP:0012823	Clinical modifier	5193	PEX12	OMIM:614859
HP:0012823	Clinical modifier	5193	PEX12	OMIM:266510
HP:0012823	Clinical modifier	374393	FAM111B	OMIM:615704
HP:0012823	Clinical modifier	5826	ABCD4	OMIM:614857
HP:0012823	Clinical modifier	79443	FYCO1	OMIM:610019
HP:0012823	Clinical modifier	6911	TBX6	OMIM:122600
HP:0012823	Clinical modifier	1174	AP1S1	OMIM:609313
HP:0012823	Clinical modifier	374654	KIF7	OMIM:607131
HP:0012823	Clinical modifier	2697	GJA1	OMIM:257850
HP:0012823	Clinical modifier	2697	GJA1	OMIM:104100
HP:0012823	Clinical modifier	2743	GLRB	OMIM:614619
HP:0012823	Clinical modifier	23129	PLXND1	OMIM:620294
HP:0012823	Clinical modifier	26227	PHGDH	OMIM:256520
HP:0012823	Clinical modifier	23265	EXOC7	OMIM:619072
HP:0012823	Clinical modifier	4204	MECP2	OMIM:300673
HP:0012823	Clinical modifier	117531	TMC1	OMIM:600974
HP:0012823	Clinical modifier	259236	TMIE	OMIM:600971
HP:0012823	Clinical modifier	5091	PC	OMIM:266150
HP:0012823	Clinical modifier	222546	RFX6	OMIM:615710
HP:0012823	Clinical modifier	54084	TSPEAR	OMIM:614861
HP:0012823	Clinical modifier	222662	LHFPL5	OMIM:610265
HP:0012823	Clinical modifier	1282	COL4A1	OMIM:175780
HP:0012823	Clinical modifier	171019	ADAMTS19	OMIM:620067
HP:0012823	Clinical modifier	10518	CIB2	OMIM:614869
HP:0012823	Clinical modifier	4952	OCRL	OMIM:309000
HP:0012823	Clinical modifier	83475	DOHH	OMIM:620066
HP:0012823	Clinical modifier	84992	PIGY	OMIM:616809
HP:0012823	Clinical modifier	10236	HNRNPR	OMIM:620073
HP:0012823	Clinical modifier	51611	DPH5	OMIM:620070
HP:0012823	Clinical modifier	78989	COLEC11	OMIM:265050
HP:0012823	Clinical modifier	6558	SLC12A2	OMIM:619080
HP:0012823	Clinical modifier	6558	SLC12A2	OMIM:619081
HP:0012823	Clinical modifier	402	ARL2	OMIM:619082
HP:0012823	Clinical modifier	5159	PDGFRB	OMIM:601812
HP:0012823	Clinical modifier	554	AVPR2	OMIM:304800
HP:0012823	Clinical modifier	5192	PEX10	OMIM:614870
HP:0012823	Clinical modifier	55670	PEX26	OMIM:614872
HP:0012823	Clinical modifier	488	ATP2A2	OMIM:101900
HP:0012823	Clinical modifier	28976	ACAD9	OMIM:611126
HP:0012823	Clinical modifier	25828	TXN2	OMIM:616811
HP:0012823	Clinical modifier	1588	CYP19A1	OMIM:613546
HP:0012823	Clinical modifier	7443	VRK1	OMIM:607596
HP:0012823	Clinical modifier	471	ATIC	OMIM:608688
HP:0012823	Clinical modifier	6231	RPS26	OMIM:613309
HP:0012823	Clinical modifier	6204	RPS10	OMIM:613308
HP:0012823	Clinical modifier	65217	PCDH15	OMIM:609533
HP:0012823	Clinical modifier	65217	PCDH15	OMIM:602083
HP:0012823	Clinical modifier	3911	LAMA5	OMIM:620076
HP:0012823	Clinical modifier	3187	HNRNPH1	OMIM:620083
HP:0012823	Clinical modifier	7837	PXDN	OMIM:269400
HP:0012823	Clinical modifier	4920	ROR2	OMIM:268310
HP:0012823	Clinical modifier	4677	NARS1	OMIM:619091
HP:0012823	Clinical modifier	4677	NARS1	OMIM:619092
HP:0012823	Clinical modifier	81031	SLC2A10	OMIM:208050
HP:0012823	Clinical modifier	254065	BRWD3	OMIM:300659
HP:0012823	Clinical modifier	2059	EPS8	OMIM:615974
HP:0012823	Clinical modifier	26022	TMEM98	OMIM:615972
HP:0012823	Clinical modifier	140628	GATA5	OMIM:617912
HP:0012823	Clinical modifier	11023	VAX1	OMIM:614402
HP:0012823	Clinical modifier	5824	PEX19	OMIM:614886
HP:0012823	Clinical modifier	5195	PEX14	OMIM:614887
HP:0012823	Clinical modifier	157570	ESCO2	OMIM:268300
HP:0012823	Clinical modifier	9775	EIF4A3	OMIM:268305
HP:0012823	Clinical modifier	583	BBS2	OMIM:615981
HP:0012823	Clinical modifier	123016	TTC8	OMIM:615985
HP:0012823	Clinical modifier	51025	PAM16	OMIM:613320
HP:0012823	Clinical modifier	585	BBS4	OMIM:615982
HP:0012823	Clinical modifier	129880	BBS5	OMIM:615983
HP:0012823	Clinical modifier	22954	TRIM32	OMIM:615988
HP:0012823	Clinical modifier	51475	CABP2	OMIM:614899
HP:0012823	Clinical modifier	166379	BBS12	OMIM:615989
HP:0012823	Clinical modifier	10664	CTCF	OMIM:615502
HP:0012823	Clinical modifier	27241	BBS9	OMIM:615986
HP:0012823	Clinical modifier	1828	DSG1	OMIM:615508
HP:0012823	Clinical modifier	5054	SERPINE1	OMIM:613329
HP:0012823	Clinical modifier	865	CBFB	OMIM:620099
HP:0012823	Clinical modifier	6309	SC5D	OMIM:607330
HP:0012823	Clinical modifier	7051	TGM1	OMIM:242300
HP:0012823	Clinical modifier	579	NKX3-2	OMIM:613330
HP:0012823	Clinical modifier	4683	NBN	OMIM:251260
HP:0012823	Clinical modifier	11020	IFT27	OMIM:615996
HP:0012823	Clinical modifier	2984	GUCY2C	OMIM:614665
HP:0012823	Clinical modifier	81607	NECTIN4	OMIM:613573
HP:0012823	Clinical modifier	100151683	RNU4ATAC	OMIM:210710
HP:0012823	Clinical modifier	29926	GMPPA	OMIM:615510
HP:0012823	Clinical modifier	54585	LZTFL1	OMIM:615994
HP:0012823	Clinical modifier	5832	ALDH18A1	OMIM:616603
HP:0012823	Clinical modifier	7545	ZIC1	OMIM:616602
HP:0012823	Clinical modifier	658	BMPR1B	OMIM:616849
HP:0012823	Clinical modifier	1417	CRYBB3	OMIM:609741
HP:0012823	Clinical modifier	8556	CDC14A	OMIM:608653
HP:0012823	Clinical modifier	91179	SCARF2	OMIM:600920
HP:0012823	Clinical modifier	9662	CEP135	OMIM:614673
HP:0012823	Clinical modifier	10370	CITED2	OMIM:614431
HP:0012823	Clinical modifier	1482	NKX2-5	OMIM:614432
HP:0012823	Clinical modifier	1482	NKX2-5	OMIM:614435
HP:0012823	Clinical modifier	388389	DNAAF19	OMIM:614679
HP:0012823	Clinical modifier	30008	EFEMP2	OMIM:614437
HP:0012823	Clinical modifier	5831	PYCR1	OMIM:614438
HP:0012823	Clinical modifier	5915	RARB	OMIM:615524
HP:0012823	Clinical modifier	51010	EXOSC3	OMIM:614678
HP:0012823	Clinical modifier	51259	TMEM216	OMIM:603194
HP:0012823	Clinical modifier	64221	ROBO3	OMIM:607313
HP:0012823	Clinical modifier	55997	CFC1	OMIM:605376
HP:0012823	Clinical modifier	7454	WAS	OMIM:300299
HP:0012823	Clinical modifier	78987	CRELD1	OMIM:606217
HP:0012823	Clinical modifier	203068	TUBB	OMIM:615771
HP:0012823	Clinical modifier	9631	NUP155	OMIM:615770
HP:0012823	Clinical modifier	10265	IRX5	OMIM:611174
HP:0012823	Clinical modifier	81027	TUBB1	OMIM:613112
HP:0012823	Clinical modifier	7026	NR2F2	OMIM:615779
HP:0012823	Clinical modifier	27315	PGAP2	OMIM:614207
HP:0012823	Clinical modifier	51008	ASCC1	OMIM:616867
HP:0012823	Clinical modifier	708	C1QBP	OMIM:617713
HP:0012823	Clinical modifier	1063	CENPF	OMIM:243605
HP:0012823	Clinical modifier	29940	DSE	OMIM:615539
HP:0012823	Clinical modifier	91647	ATPAF2	OMIM:604273
HP:0012823	Clinical modifier	163183	SYNE4	OMIM:615540
HP:0012823	Clinical modifier	338917	VSX2	OMIM:610093
HP:0012823	Clinical modifier	79796	ALG9	OMIM:263210
HP:0012823	Clinical modifier	55750	AGK	OMIM:614691
HP:0012823	Clinical modifier	547	KIF1A	OMIM:614213
HP:0012823	Clinical modifier	54664	TMEM106B	OMIM:617964
HP:0012823	Clinical modifier	11280	SCN11A	OMIM:615548
HP:0012823	Clinical modifier	79633	FAT4	OMIM:615546
HP:0012823	Clinical modifier	124997	WDR81	OMIM:617967
HP:0012823	Clinical modifier	6785	ELOVL4	OMIM:614457
HP:0012823	Clinical modifier	9419	CRIPT	OMIM:615789
HP:0012823	Clinical modifier	55644	OSGEP	OMIM:617729
HP:0012823	Clinical modifier	57572	DOCK6	OMIM:614219
HP:0012823	Clinical modifier	59336	PRDM13	OMIM:619909
HP:0012823	Clinical modifier	242	ALOX12B	OMIM:242100
HP:0012823	Clinical modifier	401	PHOX2A	OMIM:602078
HP:0012823	Clinical modifier	8200	GDF5	OMIM:200700
HP:0012823	Clinical modifier	348938	NIPAL4	OMIM:612281
HP:0012823	Clinical modifier	6628	SNRPB	OMIM:117650
HP:0012823	Clinical modifier	112858	TP53RK	OMIM:617730
HP:0012823	Clinical modifier	6138	RPL15	OMIM:615550
HP:0012823	Clinical modifier	163786	SASS6	OMIM:616402
HP:0012823	Clinical modifier	25782	RAB3GAP2	OMIM:614225
HP:0012823	Clinical modifier	22931	RAB18	OMIM:614222
HP:0012823	Clinical modifier	23443	SLC35A3	OMIM:615553
HP:0012823	Clinical modifier	29957	SLC25A24	OMIM:612289
HP:0012823	Clinical modifier	3039	HBA1	OMIM:617973
HP:0012823	Clinical modifier	490	ATP2B1	OMIM:619910
HP:0012823	Clinical modifier	51776	MAP3K20	OMIM:616890
HP:0012823	Clinical modifier	3199	HOXA2	OMIM:612290
HP:0012823	Clinical modifier	51124	IER3IP1	OMIM:614231
HP:0012823	Clinical modifier	9918	NCAPD2	OMIM:617983
HP:0012823	Clinical modifier	54870	QRICH1	OMIM:617982
HP:0012823	Clinical modifier	2627	GATA6	OMIM:614474
HP:0012823	Clinical modifier	2627	GATA6	OMIM:614475
HP:0012823	Clinical modifier	11005	SPINK5	OMIM:256500
HP:0012823	Clinical modifier	4976	OPA1	OMIM:616896
HP:0012823	Clinical modifier	23397	NCAPH	OMIM:617985
HP:0012823	Clinical modifier	55704	CCDC88A	OMIM:617507
HP:0012823	Clinical modifier	5500	PPP1CB	OMIM:617506
HP:0012823	Clinical modifier	7253	TSHR	OMIM:275200
HP:0012823	Clinical modifier	3284	HSD3B2	OMIM:201810
HP:0012823	Clinical modifier	5889	RAD51C	OMIM:613390
HP:0012823	Clinical modifier	139818	DOCK11	OMIM:301109
HP:0012823	Clinical modifier	440	ASNS	OMIM:615574
HP:0012823	Clinical modifier	200205	IBA57	OMIM:615330
HP:0012823	Clinical modifier	7431	VIM	OMIM:116300
HP:0012823	Clinical modifier	1663	DDX11	OMIM:613398
HP:0012823	Clinical modifier	119559	SFXN4	OMIM:615578
HP:0012823	Clinical modifier	5718	PSMD12	OMIM:617516
HP:0012823	Clinical modifier	9439	MED23	OMIM:614249
HP:0012823	Clinical modifier	57731	SPTBN4	OMIM:617519
HP:0012823	Clinical modifier	10269	ZMPSTE24	OMIM:275210
HP:0012823	Clinical modifier	6223	RPS19	OMIM:105650
HP:0012823	Clinical modifier	10516	FBLN5	OMIM:219100
HP:0012823	Clinical modifier	139886	SPIN4	OMIM:301114
HP:0012823	Clinical modifier	5307	PITX1	OMIM:119800
HP:0012823	Clinical modifier	2902	GRIN1	OMIM:614254
HP:0012823	Clinical modifier	92935	MARS2	OMIM:616430
HP:0012823	Clinical modifier	22827	PUF60	OMIM:615583
HP:0012823	Clinical modifier	50484	RRM2B	OMIM:612075
HP:0012823	Clinical modifier	2815	GP9	OMIM:231200
HP:0012823	Clinical modifier	2811	GP1BA	OMIM:231200
HP:0012823	Clinical modifier	2812	GP1BB	OMIM:231200
HP:0012823	Clinical modifier	29089	UBE2T	OMIM:616435
HP:0012823	Clinical modifier	127534	GJB4	OMIM:617524
HP:0012823	Clinical modifier	85378	TUBGCP6	OMIM:251270
HP:0012823	Clinical modifier	4254	KITLG	OMIM:619947
HP:0012823	Clinical modifier	9181	ARHGEF2	OMIM:617523
HP:0012823	Clinical modifier	10058	ABCB6	OMIM:614497
HP:0012823	Clinical modifier	6688	SPI1	OMIM:619707
HP:0012823	Clinical modifier	55753	OGDHL	OMIM:619701
HP:0012823	Clinical modifier	9373	PLAA	OMIM:617527
HP:0012823	Clinical modifier	100128908	CIROP	OMIM:619702
HP:0012823	Clinical modifier	2531	KDSR	OMIM:617526
HP:0012823	Clinical modifier	401474	SAMD12	OMIM:601068
HP:0012823	Clinical modifier	51726	DNAJB11	OMIM:618061
HP:0012823	Clinical modifier	7072	TIA1	OMIM:604454
HP:0012823	Clinical modifier	23646	PLD3	OMIM:617770
HP:0012823	Clinical modifier	735	C9	OMIM:615591
HP:0012823	Clinical modifier	5949	RBP3	OMIM:615233
HP:0012823	Clinical modifier	463	ZFHX3	OMIM:613055
HP:0012823	Clinical modifier	9782	MATR3	OMIM:606070
HP:0012823	Clinical modifier	8291	DYSF	OMIM:254130
HP:0012823	Clinical modifier	5009	OTC	OMIM:311250
HP:0012823	Clinical modifier	100996717	NOTCH2NLC	OMIM:618866
HP:0012823	Clinical modifier	2153	F5	OMIM:600880
HP:0012823	Clinical modifier	2153	F5	OMIM:188055
HP:0012823	Clinical modifier	2153	F5	OMIM:601367
HP:0012823	Clinical modifier	3717	JAK2	OMIM:600880
HP:0012823	Clinical modifier	27327	TNRC6A	OMIM:618074
HP:0012823	Clinical modifier	2512	FTL	OMIM:600886
HP:0012823	Clinical modifier	2767	GNA11	OMIM:615361
HP:0012823	Clinical modifier	9693	RAPGEF2	OMIM:618075
HP:0012823	Clinical modifier	70	ACTC1	OMIM:612098
HP:0012823	Clinical modifier	64072	CDH23	OMIM:617540
HP:0012823	Clinical modifier	101060691	NUTM2B-AS1	OMIM:618637
HP:0012823	Clinical modifier	4790	NFKB1	OMIM:616576
HP:0012823	Clinical modifier	2332	FMR1	OMIM:311360
HP:0012823	Clinical modifier	84899	TMTC4	OMIM:620714
HP:0012823	Clinical modifier	54982	CLN6	OMIM:204300
HP:0012823	Clinical modifier	10165	SLC25A13	OMIM:603471
HP:0012823	Clinical modifier	9984	THOC1	OMIM:620280
HP:0012823	Clinical modifier	2642	GCGR	OMIM:619290
HP:0012823	Clinical modifier	348	APOE	OMIM:607822
HP:0012823	Clinical modifier	348	APOE	OMIM:269600
HP:0012823	Clinical modifier	5663	PSEN1	OMIM:607822
HP:0012823	Clinical modifier	23347	SMCHD1	OMIM:158901
HP:0012823	Clinical modifier	91	ACVR1B	OMIM:260350
HP:0012823	Clinical modifier	4089	SMAD4	OMIM:260350
HP:0012823	Clinical modifier	6794	STK11	OMIM:260350
HP:0012823	Clinical modifier	7157	TP53	OMIM:260350
HP:0012823	Clinical modifier	283677	REC114	OMIM:619176
HP:0012823	Clinical modifier	1540	CYLD	OMIM:601606
HP:0012823	Clinical modifier	1540	CYLD	OMIM:132700
HP:0012823	Clinical modifier	1540	CYLD	OMIM:605041
HP:0012823	Clinical modifier	91624	NEXN	OMIM:613876
HP:0012823	Clinical modifier	6575	SLC20A2	OMIM:213600
HP:0012823	Clinical modifier	5155	PDGFB	OMIM:213600
HP:0012823	Clinical modifier	5155	PDGFB	OMIM:607174
HP:0012823	Clinical modifier	9639	ARHGEF10	OMIM:608236
HP:0012823	Clinical modifier	9499	MYOT	OMIM:609200
HP:0012823	Clinical modifier	4151	MB	OMIM:620286
HP:0012823	Clinical modifier	5621	PRNP	OMIM:600072
HP:0012823	Clinical modifier	5621	PRNP	OMIM:137440
HP:0012823	Clinical modifier	7276	TTR	OMIM:105210
HP:0012823	Clinical modifier	10273	STUB1	OMIM:618093
HP:0012823	Clinical modifier	6687	SPG7	OMIM:607259
HP:0012823	Clinical modifier	5979	RET	OMIM:171400
HP:0012823	Clinical modifier	11232	POLG2	OMIM:610131
HP:0012823	Clinical modifier	7273	TTN	OMIM:613765
HP:0012823	Clinical modifier	7273	TTN	OMIM:603689
HP:0012823	Clinical modifier	7273	TTN	OMIM:600334
HP:0012823	Clinical modifier	56922	MCCC1	OMIM:210200
HP:0012823	Clinical modifier	54840	APTX	OMIM:208920
HP:0012823	Clinical modifier	4582	MUC1	OMIM:174000
HP:0012823	Clinical modifier	29880	ALG5	OMIM:620056
HP:0012823	Clinical modifier	6908	TBP	OMIM:607136
HP:0012823	Clinical modifier	6908	TBP	OMIM:168600
HP:0012823	Clinical modifier	2629	GBA1	OMIM:231000
HP:0012823	Clinical modifier	2629	GBA1	OMIM:168600
HP:0012823	Clinical modifier	2259	FGF14	OMIM:620174
HP:0012823	Clinical modifier	1938	EEF2	OMIM:609306
HP:0012823	Clinical modifier	4607	MYBPC3	OMIM:115197
HP:0012823	Clinical modifier	11277	TREX1	OMIM:192315
HP:0012823	Clinical modifier	7015	TERT	OMIM:614742
HP:0012823	Clinical modifier	7012	TERC	OMIM:614743
HP:0012823	Clinical modifier	79798	ARMC5	OMIM:615954
HP:0012823	Clinical modifier	8557	TCAP	OMIM:607487
HP:0012823	Clinical modifier	54440	SASH3	OMIM:301082
HP:0012823	Clinical modifier	8048	CSRP3	OMIM:607482
HP:0012823	Clinical modifier	8048	CSRP3	OMIM:612124
HP:0012823	Clinical modifier	4040	LRP6	OMIM:610947
HP:0012823	Clinical modifier	79966	SCD5	OMIM:619086
HP:0012823	Clinical modifier	3931	LCAT	OMIM:245900
HP:0012823	Clinical modifier	1674	DES	OMIM:604765
HP:0012823	Clinical modifier	1674	DES	OMIM:601419
HP:0012823	Clinical modifier	5073	PARN	OMIM:616371
HP:0012823	Clinical modifier	80206	FHOD3	OMIM:619402
HP:0012823	Clinical modifier	9247	GCM2	OMIM:617343
HP:0012823	Clinical modifier	23400	ATP13A2	OMIM:617225
HP:0012823	Clinical modifier	4625	MYH7	OMIM:613426
HP:0012823	Clinical modifier	866	SERPINA6	OMIM:611489
HP:0012823	Clinical modifier	57462	MYORG	OMIM:618317
HP:0012823	Clinical modifier	25913	POT1	OMIM:615848
HP:0012823	Clinical modifier	11155	LDB3	OMIM:601493
HP:0012823	Clinical modifier	4205	MEF2A	OMIM:608320
HP:0012823	Clinical modifier	57104	PNPLA2	OMIM:610717
HP:0012823	Clinical modifier	1769	DNAH8	OMIM:619095
HP:0012823	Clinical modifier	4846	NOS3	OMIM:601367
HP:0012823	Clinical modifier	4846	NOS3	OMIM:104300
HP:0012823	Clinical modifier	5583	PRKCH	OMIM:601367
HP:0012823	Clinical modifier	241	ALOX5AP	OMIM:601367
HP:0012823	Clinical modifier	775	CACNA1C	OMIM:618447
HP:0012823	Clinical modifier	2318	FLNC	OMIM:609524
HP:0012823	Clinical modifier	64241	ABCG8	OMIM:210250
HP:0012823	Clinical modifier	2475	MTOR	OMIM:607341
HP:0012823	Clinical modifier	7248	TSC1	OMIM:607341
HP:0012823	Clinical modifier	7249	TSC2	OMIM:607341
HP:0012823	Clinical modifier	6330	SCN4B	OMIM:611819
HP:0012823	Clinical modifier	56652	TWNK	OMIM:607459
HP:0012823	Clinical modifier	56652	TWNK	OMIM:609286
HP:0012823	Clinical modifier	5428	POLG	OMIM:607459
HP:0012823	Clinical modifier	5428	POLG	OMIM:157640
HP:0012823	Clinical modifier	3617	IMPG1	OMIM:616151
HP:0012823	Clinical modifier	5424	POLD1	OMIM:612591
HP:0012823	Clinical modifier	11231	SEC63	OMIM:617004
HP:0012823	Clinical modifier	144245	ALG10B	OMIM:613688
HP:0012823	Clinical modifier	3757	KCNH2	OMIM:613688
HP:0012823	Clinical modifier	57592	ZNF687	OMIM:616833
HP:0012823	Clinical modifier	23534	TNPO3	OMIM:608423
HP:0012823	Clinical modifier	2157	F8	OMIM:301071
HP:0012823	Clinical modifier	2934	GSN	OMIM:105120
HP:0012823	Clinical modifier	6310	ATXN1	OMIM:164400
HP:0012823	Clinical modifier	8322	FZD4	OMIM:133780
HP:0012823	Clinical modifier	4137	MAPT	OMIM:601104
HP:0012823	Clinical modifier	4137	MAPT	OMIM:260540
HP:0012823	Clinical modifier	4137	MAPT	OMIM:168600
HP:0012823	Clinical modifier	2774	GNAL	OMIM:615073
HP:0012823	Clinical modifier	126129	CPT1C	OMIM:616282
HP:0012823	Clinical modifier	7137	TNNI3	OMIM:613690
HP:0012823	Clinical modifier	9992	KCNE2	OMIM:613693
HP:0012823	Clinical modifier	8076	MFAP5	OMIM:616166
HP:0012823	Clinical modifier	79188	TMEM43	OMIM:614302
HP:0012823	Clinical modifier	1356	CP	OMIM:604290
HP:0012823	Clinical modifier	4171	MCM2	OMIM:616968
HP:0012823	Clinical modifier	2778	GNAS	OMIM:219080
HP:0012823	Clinical modifier	3081	HGD	OMIM:203500
HP:0012823	Clinical modifier	23345	SYNE1	OMIM:610743
HP:0012823	Clinical modifier	4353	MPO	OMIM:104300
HP:0012823	Clinical modifier	5328	PLAU	OMIM:104300
HP:0012823	Clinical modifier	351	APP	OMIM:104300
HP:0012823	Clinical modifier	4001	LMNB1	OMIM:169500
HP:0012823	Clinical modifier	27235	COQ2	OMIM:146500
HP:0012823	Clinical modifier	718	C3	OMIM:612925
HP:0012823	Clinical modifier	669	BPGM	OMIM:222800
HP:0012823	Clinical modifier	1743	DLST	OMIM:618475
HP:0012823	Clinical modifier	518	ATP5MC3	OMIM:619681
HP:0012823	Clinical modifier	6598	SMARCB1	OMIM:162091
HP:0012823	Clinical modifier	5244	ABCB4	OMIM:600803
HP:0012823	Clinical modifier	2784	GNB3	OMIM:617024
HP:0012823	Clinical modifier	123624	AGBL1	OMIM:615523
HP:0012823	Clinical modifier	4363	ABCC1	OMIM:618915
HP:0012823	Clinical modifier	2027	ENO3	OMIM:612932
HP:0012823	Clinical modifier	54344	DPM3	OMIM:612937
HP:0012823	Clinical modifier	2710	GK	OMIM:307030
HP:0012823	Clinical modifier	6391	SDHC	OMIM:605373
HP:0012823	Clinical modifier	8915	BCL10	OMIM:137245
HP:0012823	Clinical modifier	4633	MYL2	OMIM:608758
HP:0012823	Clinical modifier	3315	HSPB1	OMIM:608634
HP:0012823	Clinical modifier	29978	UBQLN2	OMIM:300857
HP:0012823	Clinical modifier	55737	VPS35	OMIM:614203
HP:0012823	Clinical modifier	79628	SH3TC2	OMIM:613353
HP:0012823	Clinical modifier	56244	BTNL2	OMIM:612387
HP:0012823	Clinical modifier	64423	INF2	OMIM:613237
HP:0012823	Clinical modifier	3273	HRG	OMIM:613116
HP:0012823	Clinical modifier	1285	COL4A3	OMIM:620320
HP:0012823	Clinical modifier	549	AUH	OMIM:250950
HP:0012823	Clinical modifier	2771	GNAI2	OMIM:192605
HP:0012823	Clinical modifier	11315	PARK7	OMIM:606324
HP:0012823	Clinical modifier	219972	MPEG1	OMIM:619223
HP:0012823	Clinical modifier	51428	DDX41	OMIM:616871
HP:0012823	Clinical modifier	5981	RFC1	OMIM:614575
HP:0012823	Clinical modifier	130951	M1AP	OMIM:619108
HP:0012823	Clinical modifier	595	CCND1	OMIM:254500
HP:0012823	Clinical modifier	3981	LIG4	OMIM:254500
HP:0012823	Clinical modifier	9563	H6PD	OMIM:604931
HP:0012823	Clinical modifier	5137	PDE1C	OMIM:618140
HP:0012823	Clinical modifier	11284	PNKP	OMIM:605589
HP:0012823	Clinical modifier	55213	RCBTB1	OMIM:617175
HP:0012823	Clinical modifier	6424	SFRP4	OMIM:265900
HP:0012823	Clinical modifier	1789	DNMT3B	OMIM:619478
HP:0012823	Clinical modifier	6336	SCN10A	OMIM:615551
HP:0012823	Clinical modifier	115650	TNFRSF13C	OMIM:613494
HP:0012823	Clinical modifier	6935	ZEB1	OMIM:609141
HP:0012823	Clinical modifier	5592	PRKG1	OMIM:615436
HP:0012823	Clinical modifier	246213	SLC17A8	OMIM:605583
HP:0012823	Clinical modifier	1639	DCTN1	OMIM:607641
HP:0012823	Clinical modifier	1639	DCTN1	OMIM:105400
HP:0012823	Clinical modifier	1639	DCTN1	OMIM:168605
HP:0012823	Clinical modifier	7345	UCHL1	OMIM:620221
HP:0012823	Clinical modifier	5589	PRKCSH	OMIM:174050
HP:0012823	Clinical modifier	203228	C9orf72	OMIM:105550
HP:0012823	Clinical modifier	54949	SDHAF2	OMIM:601650
HP:0012823	Clinical modifier	56910	STARD7	OMIM:607876
HP:0012823	Clinical modifier	5728	PTEN	OMIM:158350
HP:0012823	Clinical modifier	5728	PTEN	OMIM:607174
HP:0012823	Clinical modifier	7504	XK	OMIM:300842
HP:0012823	Clinical modifier	476	ATP1A1	OMIM:618036
HP:0012823	Clinical modifier	7222	TRPC3	OMIM:616410
HP:0012823	Clinical modifier	10699	CORIN	OMIM:614595
HP:0012823	Clinical modifier	2956	MSH6	OMIM:614350
HP:0012823	Clinical modifier	9213	XPR1	OMIM:616413
HP:0012823	Clinical modifier	6925	TCF4	OMIM:613267
HP:0012823	Clinical modifier	4913	NTHL1	OMIM:616415
HP:0012823	Clinical modifier	10342	TFG	OMIM:604484
HP:0012823	Clinical modifier	8930	MBD4	OMIM:606660
HP:0012823	Clinical modifier	1756	DMD	OMIM:300376
HP:0012823	Clinical modifier	3123	HLA-DRB1	OMIM:181000
HP:0012823	Clinical modifier	3123	HLA-DRB1	OMIM:126200
HP:0012823	Clinical modifier	4221	MEN1	OMIM:131100
HP:0012823	Clinical modifier	56983	POGLUT1	OMIM:615696
HP:0012823	Clinical modifier	7056	THBD	OMIM:614486
HP:0012823	Clinical modifier	6522	SLC4A2	OMIM:620366
HP:0012823	Clinical modifier	4668	NAGA	OMIM:609242
HP:0012823	Clinical modifier	65057	ACD	OMIM:616553
HP:0012823	Clinical modifier	6041	RNASEL	OMIM:601518
HP:0012823	Clinical modifier	159686	CFAP58	OMIM:619144
HP:0012823	Clinical modifier	999	CDH1	OMIM:137215
HP:0012823	Clinical modifier	29110	TBK1	OMIM:616439
HP:0012823	Clinical modifier	207	AKT1	OMIM:615109
HP:0012823	Clinical modifier	3075	CFH	OMIM:610698
HP:0012823	Clinical modifier	1584	CYP11B1	OMIM:103900
HP:0012823	Clinical modifier	4287	ATXN3	OMIM:168600
HP:0012823	Clinical modifier	126	ADH1C	OMIM:168600
HP:0012823	Clinical modifier	4576	MT-TT	OMIM:168600
HP:0012823	Clinical modifier	9627	SNCAIP	OMIM:168600
HP:0012823	Clinical modifier	4929	NR4A2	OMIM:168600
HP:0012823	Clinical modifier	6311	ATXN2	OMIM:168600
HP:0012823	Clinical modifier	6315	ATXN8OS	OMIM:168600
HP:0012823	Clinical modifier	6647	SOD1	OMIM:105400
HP:0012823	Clinical modifier	5630	PRPH	OMIM:105400
HP:0012823	Clinical modifier	1829	DSG2	OMIM:612877
HP:0012823	Clinical modifier	9987	HNRNPDL	OMIM:609115
HP:0012823	Clinical modifier	6605	SMARCE1	OMIM:607174
HP:0012823	Clinical modifier	4330	MN1	OMIM:607174
HP:0012823	Clinical modifier	4771	NF2	OMIM:607174
HP:0012823	Clinical modifier	3119	HLA-DQB1	OMIM:126200
HP:0012823	Clinical modifier	6786	STIM1	OMIM:160565
HP:0012823	Clinical modifier	114902	C1QTNF5	OMIM:605670
HP:0012823	Clinical modifier	7384	UQCRC1	OMIM:619279
HP:0012823	Clinical modifier	146227	BEAN1	OMIM:117210
HP:0012823	Clinical modifier	6208	RPS14	OMIM:153550
HP:0012823	Clinical modifier	4750	NEK1	OMIM:617892
HP:0012823	Clinical modifier	4311	MME	OMIM:617018
HP:0012823	Clinical modifier	5664	PSEN2	OMIM:613697
HP:0012823	Clinical modifier	3910	LAMA4	OMIM:615235
HP:0012823	Clinical modifier	2066	ERBB4	OMIM:615515
HP:0012823	Clinical modifier	7277	TUBA4A	OMIM:616208
HP:0012823	Clinical modifier	3875	KRT18	OMIM:215600
HP:0012823	Clinical modifier	84665	MYPN	OMIM:615248
HP:0012823	Clinical modifier	644	BLVRA	OMIM:614156
HP:0012823	Clinical modifier	26011	TENM4	OMIM:616736
HP:0012823	Clinical modifier	1824	DSC2	OMIM:610476
HP:0012823	Clinical modifier	4884	NPTX1	OMIM:620158
HP:0012823	Clinical modifier	54822	TRPM7	OMIM:105500
HP:0012823	Clinical modifier	4010	LMX1B	OMIM:256020
HP:0012823	Clinical modifier	6597	SMARCA4	OMIM:620792
HP:0012823	Clinical modifier	10878	CFHR3	OMIM:603075
HP:0012823	Clinical modifier	83872	HMCN1	OMIM:603075
HP:0012823	Clinical modifier	3078	CFHR1	OMIM:603075
HP:0012823	Clinical modifier	146057	TTBK2	OMIM:604432
HP:0012823	Clinical modifier	653509	SFTPA1	OMIM:619611
HP:0012823	Clinical modifier	7045	TGFBI	OMIM:608471
HP:0012823	Clinical modifier	3818	KLKB1	OMIM:612423
HP:0012823	Clinical modifier	5173	PDYN	OMIM:610245
HP:0012823	Clinical modifier	825	CAPN3	OMIM:618129
HP:0012823	Clinical modifier	7123	CLEC3B	OMIM:619977
HP:0012823	Clinical modifier	311	ANXA11	OMIM:617839
HP:0012823	Clinical modifier	4015	LOX	OMIM:617168
HP:0012823	Clinical modifier	2992	GYG1	OMIM:616199
HP:0012823	Clinical modifier	10347	ABCA7	OMIM:608907
HP:0012823	Clinical modifier	9531	BAG3	OMIM:613881
HP:0012823	Clinical modifier	6392	SDHD	OMIM:168000
HP:0012823	Clinical modifier	9256	TSPOAP1	OMIM:620456
HP:0012823	Clinical modifier	4624	MYH6	OMIM:613251
HP:0012823	Clinical modifier	7414	VCL	OMIM:613255
HP:0012823	Clinical modifier	389692	MAFA	OMIM:147630
HP:0012823	Clinical modifier	7134	TNNC1	OMIM:611879
HP:0012823	Clinical modifier	84868	HAVCR2	OMIM:618398
HP:0012823	Clinical modifier	10483	SEC23B	OMIM:224100
HP:0012823	Clinical modifier	6934	TCF7L2	OMIM:125853
HP:0012823	Clinical modifier	5078	PAX4	OMIM:125853
HP:0012823	Clinical modifier	3569	IL6	OMIM:125853
HP:0012823	Clinical modifier	3990	LIPC	OMIM:125853
HP:0012823	Clinical modifier	6927	HNF1A	OMIM:125853
HP:0012823	Clinical modifier	4760	NEUROD1	OMIM:125853
HP:0012823	Clinical modifier	5506	PPP1R3A	OMIM:125853
HP:0012823	Clinical modifier	169026	SLC30A8	OMIM:125853
HP:0012823	Clinical modifier	2820	GPD2	OMIM:125853
HP:0012823	Clinical modifier	6928	HNF1B	OMIM:125853
HP:0012823	Clinical modifier	5468	PPARG	OMIM:125853
HP:0012823	Clinical modifier	5770	PTPN1	OMIM:125853
HP:0012823	Clinical modifier	8660	IRS2	OMIM:125853
HP:0012823	Clinical modifier	3159	HMGA1	OMIM:125853
HP:0012823	Clinical modifier	3667	IRS1	OMIM:125853
HP:0012823	Clinical modifier	9479	MAPK8IP1	OMIM:125853
HP:0012823	Clinical modifier	4544	MTNR1B	OMIM:125853
HP:0012823	Clinical modifier	56729	RETN	OMIM:125853
HP:0012823	Clinical modifier	7466	WFS1	OMIM:125853
HP:0012823	Clinical modifier	2645	GCK	OMIM:125853
HP:0012823	Clinical modifier	10644	IGF2BP2	OMIM:125853
HP:0012823	Clinical modifier	5654	HTRA1	OMIM:616779
HP:0012823	Clinical modifier	120892	LRRK2	OMIM:607060
HP:0012823	Clinical modifier	23435	TARDBP	OMIM:612069
HP:0012823	Clinical modifier	3752	KCND3	OMIM:607346
HP:0012823	Clinical modifier	654	BMP6	OMIM:620121
HP:0012823	Clinical modifier	899	CCNF	OMIM:619141
HP:0012823	Clinical modifier	23193	GANAB	OMIM:600666
HP:0012823	Clinical modifier	54443	ANLN	OMIM:616032
HP:0012823	Clinical modifier	50939	IMPG2	OMIM:616152
HP:0012823	Clinical modifier	79875	THSD4	OMIM:619825
HP:0012823	Clinical modifier	51142	CHCHD2	OMIM:616710
HP:0012823	Clinical modifier	8996	NOL3	OMIM:614937
HP:0012823	Clinical modifier	27199	OXGR1	OMIM:620374
HP:0012823	Clinical modifier	1981	EIF4G1	OMIM:614251
HP:0012823	Clinical modifier	3071	NCKAP1L	OMIM:618982
HP:0012823	Clinical modifier	51256	TBC1D7	OMIM:248000
HP:0012823	Clinical modifier	340533	NEXMIF	OMIM:300912
HP:0012823	Clinical modifier	5993	RFX5	OMIM:620818
HP:0012823	Clinical modifier	5993	RFX5	OMIM:620816
HP:0012823	Clinical modifier	23135	KDM6B	OMIM:618505
HP:0012823	Clinical modifier	55240	STEAP3	OMIM:615234
HP:0012823	Clinical modifier	23334	SZT2	OMIM:615476
HP:0012823	Clinical modifier	4919	ROR1	OMIM:617654
HP:0012823	Clinical modifier	56704	JPH1	OMIM:607831
HP:0012823	Clinical modifier	161582	DNAAF4	OMIM:615482
HP:0012823	Clinical modifier	6487	ST3GAL3	OMIM:615006
HP:0012823	Clinical modifier	7532	YWHAG	OMIM:617665
HP:0012823	Clinical modifier	55904	KMT2E	OMIM:618512
HP:0012823	Clinical modifier	84520	GON7	OMIM:619603
HP:0012823	Clinical modifier	24142	NAA80	OMIM:620830
HP:0012823	Clinical modifier	1080	CFTR	OMIM:219700
HP:0012823	Clinical modifier	2212	FCGR2A	OMIM:219700
HP:0012823	Clinical modifier	7040	TGFB1	OMIM:219700
HP:0012823	Clinical modifier	1896	EDA	OMIM:305100
HP:0012823	Clinical modifier	4318	MMP9	OMIM:613073
HP:0012823	Clinical modifier	23321	TRIM2	OMIM:615490
HP:0012823	Clinical modifier	818	CAMK2G	OMIM:618522
HP:0012823	Clinical modifier	54453	RIN2	OMIM:613075
HP:0012823	Clinical modifier	5105	PCK1	OMIM:261680
HP:0012823	Clinical modifier	6884	TAF13	OMIM:617432
HP:0012823	Clinical modifier	7343	UBTF	OMIM:617672
HP:0012823	Clinical modifier	6844	VAMP2	OMIM:618760
HP:0012823	Clinical modifier	64834	ELOVL1	OMIM:618527
HP:0012823	Clinical modifier	7852	CXCR4	OMIM:193670
HP:0012823	Clinical modifier	3064	HTT	OMIM:617435
HP:0012823	Clinical modifier	54543	TOMM7	OMIM:620601
HP:0012823	Clinical modifier	3614	IMPDH1	OMIM:180105
HP:0012823	Clinical modifier	90167	FRMD7	OMIM:310700
HP:0012823	Clinical modifier	1105	CHD1	OMIM:617682
HP:0012823	Clinical modifier	54795	TRPM4	OMIM:618531
HP:0012823	Clinical modifier	1594	CYP27B1	OMIM:264700
HP:0012823	Clinical modifier	8789	FBP2	OMIM:619864
HP:0012823	Clinical modifier	3340	NDST1	OMIM:616116
HP:0012823	Clinical modifier	284184	NDUFAF8	OMIM:618776
HP:0012823	Clinical modifier	11193	WBP4	OMIM:620852
HP:0012823	Clinical modifier	4247	MGAT2	OMIM:212066
HP:0012823	Clinical modifier	167691	LCA5	OMIM:604537
HP:0012823	Clinical modifier	30009	TBX21	OMIM:619630
HP:0012823	Clinical modifier	55768	NGLY1	OMIM:615273
HP:0012823	Clinical modifier	26038	CHD5	OMIM:619873
HP:0012823	Clinical modifier	5034	P4HB	OMIM:112240
HP:0012823	Clinical modifier	8482	SEMA7A	OMIM:619874
HP:0012823	Clinical modifier	55621	TRMT1	OMIM:618302
HP:0012823	Clinical modifier	3737	KCNA2	OMIM:616366
HP:0012823	Clinical modifier	5593	PRKG2	OMIM:619638
HP:0012823	Clinical modifier	9636	ISG15	OMIM:616126
HP:0012823	Clinical modifier	92609	TIMM50	OMIM:617698
HP:0012823	Clinical modifier	5357	PLS1	OMIM:618787
HP:0012823	Clinical modifier	7173	TPO	OMIM:274500
HP:0012823	Clinical modifier	111	ADCY5	OMIM:606703
HP:0012823	Clinical modifier	111	ADCY5	OMIM:619651
HP:0012823	Clinical modifier	3507	IGHM	OMIM:601495
HP:0012823	Clinical modifier	5605	MAP2K2	OMIM:615280
HP:0012823	Clinical modifier	54828	BCAS3	OMIM:619641
HP:0012823	Clinical modifier	8989	TRPA1	OMIM:615040
HP:0012823	Clinical modifier	57169	ZNFX1	OMIM:619644
HP:0012823	Clinical modifier	27068	PPA2	OMIM:617222
HP:0012823	Clinical modifier	113179	ADAT3	OMIM:615286
HP:0012823	Clinical modifier	1742	DLG4	OMIM:618793
HP:0012823	Clinical modifier	2904	GRIN2B	OMIM:616139
HP:0012823	Clinical modifier	4285	MIPEP	OMIM:617228
HP:0012823	Clinical modifier	2314	FLII	OMIM:620635
HP:0012823	Clinical modifier	10531	PITRM1	OMIM:619405
HP:0012823	Clinical modifier	6901	TAFAZZIN	OMIM:302060
HP:0012823	Clinical modifier	57609	DIP2B	OMIM:136630
HP:0012823	Clinical modifier	4488	MSX2	OMIM:604757
HP:0012823	Clinical modifier	4351	MPI	OMIM:602579
HP:0012823	Clinical modifier	55739	NAXD	OMIM:618321
HP:0012823	Clinical modifier	5354	PLP1	OMIM:312080
HP:0012823	Clinical modifier	5354	PLP1	OMIM:312920
HP:0012823	Clinical modifier	7143	TNR	OMIM:619653
HP:0012823	Clinical modifier	5917	RARS1	OMIM:616140
HP:0012823	Clinical modifier	8565	YARS1	OMIM:619418
HP:0012823	Clinical modifier	6572	SLC18A3	OMIM:617239
HP:0012823	Clinical modifier	5741	PTH	OMIM:146200
HP:0012823	Clinical modifier	2720	GLB1	OMIM:230500
HP:0012823	Clinical modifier	23499	MACF1	OMIM:618325
HP:0012823	Clinical modifier	6476	SI	OMIM:222900
HP:0012823	Clinical modifier	10533	ATG7	OMIM:619422
HP:0012823	Clinical modifier	1523	CUX1	OMIM:618330
HP:0012823	Clinical modifier	3000	GUCY2D	OMIM:204000
HP:0012823	Clinical modifier	7535	ZAP70	OMIM:617006
HP:0012823	Clinical modifier	7535	ZAP70	OMIM:269840
HP:0012823	Clinical modifier	171546	SPTSSA	OMIM:620416
HP:0012823	Clinical modifier	171546	SPTSSA	OMIM:620417
HP:0012823	Clinical modifier	1642	DDB1	OMIM:619426
HP:0012823	Clinical modifier	389827	MYMK	OMIM:254940
HP:0012823	Clinical modifier	9949	AMMECR1	OMIM:300990
HP:0012823	Clinical modifier	57459	GATAD2B	OMIM:615074
HP:0012823	Clinical modifier	84894	LINGO1	OMIM:618103
HP:0012823	Clinical modifier	7053	TGM3	OMIM:617251
HP:0012823	Clinical modifier	160418	TMTC3	OMIM:617255
HP:0012823	Clinical modifier	2187	FANCB	OMIM:300514
HP:0012823	Clinical modifier	54517	PUS7	OMIM:618342
HP:0012823	Clinical modifier	10564	ARFGEF2	OMIM:608097
HP:0012823	Clinical modifier	4967	OGDH	OMIM:203740
HP:0012823	Clinical modifier	3659	IRF1	OMIM:620668
HP:0012823	Clinical modifier	6418	SET	OMIM:618106
HP:0012823	Clinical modifier	4703	NEB	OMIM:256030
HP:0012823	Clinical modifier	959	CD40LG	OMIM:308230
HP:0012823	Clinical modifier	1120	CHKB	OMIM:602541
HP:0012823	Clinical modifier	29887	SNX10	OMIM:615085
HP:0012823	Clinical modifier	64801	ARV1	OMIM:617020
HP:0012823	Clinical modifier	6096	RORB	OMIM:618357
HP:0012823	Clinical modifier	112755	STX1B	OMIM:616172
HP:0012823	Clinical modifier	5568	PRKACG	OMIM:616176
HP:0012823	Clinical modifier	23043	TNIK	OMIM:617028
HP:0012823	Clinical modifier	8912	CACNA1H	OMIM:617027
HP:0012823	Clinical modifier	23524	SRRM2	OMIM:620439
HP:0012823	Clinical modifier	64065	PERP	OMIM:619208
HP:0012823	Clinical modifier	868	CBLB	OMIM:620430
HP:0012823	Clinical modifier	79709	COLGALT1	OMIM:618360
HP:0012823	Clinical modifier	55777	MBD5	OMIM:156200
HP:0012823	Clinical modifier	51132	RLIM	OMIM:300978
HP:0012823	Clinical modifier	10588	MTHFS	OMIM:618367
HP:0012823	Clinical modifier	51434	ANAPC7	OMIM:619699
HP:0012823	Clinical modifier	24140	FTSJ1	OMIM:309549
HP:0012823	Clinical modifier	6601	SMARCC2	OMIM:618362
HP:0012823	Clinical modifier	92255	LMBRD2	OMIM:619694
HP:0012823	Clinical modifier	9020	MAP3K14	OMIM:620449
HP:0012823	Clinical modifier	51704	GPRC5B	OMIM:620447
HP:0012823	Clinical modifier	361	AQP4	OMIM:620448
HP:0012823	Clinical modifier	9675	TTI1	OMIM:620445
HP:0012823	Clinical modifier	3183	HNRNPC	OMIM:620688
HP:0012823	Clinical modifier	819	CAMLG	OMIM:620201
HP:0012823	Clinical modifier	10083	USH1C	OMIM:276900
HP:0012823	Clinical modifier	51608	GET4	OMIM:620200
HP:0012823	Clinical modifier	56776	FMN2	OMIM:616193
HP:0012823	Clinical modifier	2064	ERBB2	OMIM:619465
HP:0012823	Clinical modifier	55630	SLC39A4	OMIM:201100
HP:0012823	Clinical modifier	254428	SLC41A1	OMIM:619468
HP:0012823	Clinical modifier	9758	FRMPD4	OMIM:300983
HP:0012823	Clinical modifier	7174	TPP2	OMIM:619220
HP:0012823	Clinical modifier	23328	SASH1	OMIM:618373
HP:0012823	Clinical modifier	23328	SASH1	OMIM:127500
HP:0012823	Clinical modifier	4761	NEUROD2	OMIM:618374
HP:0012823	Clinical modifier	3188	HNRNPH2	OMIM:300986
HP:0012823	Clinical modifier	1974	EIF4A2	OMIM:620455
HP:0012823	Clinical modifier	55186	SLC25A36	OMIM:620211
HP:0012823	Clinical modifier	9294	S1PR2	OMIM:610419
HP:0012823	Clinical modifier	4035	LRP1	OMIM:620690
HP:0012823	Clinical modifier	4035	LRP1	OMIM:604093
HP:0012823	Clinical modifier	83480	PUS3	OMIM:617051
HP:0012823	Clinical modifier	23316	CUX2	OMIM:618141
HP:0012823	Clinical modifier	570	BAAT	OMIM:619232
HP:0012823	Clinical modifier	94005	PIGS	OMIM:618143
HP:0012823	Clinical modifier	83706	FERMT3	OMIM:612840
HP:0012823	Clinical modifier	8452	CUL3	OMIM:619239
HP:0012823	Clinical modifier	9968	MED12	OMIM:309520
HP:0012823	Clinical modifier	527	ATP6V0C	OMIM:620465
HP:0012823	Clinical modifier	8720	MBTPS1	OMIM:618392
HP:0012823	Clinical modifier	1457	CSNK2A1	OMIM:617062
HP:0012823	Clinical modifier	7204	TRIO	OMIM:617061
HP:0012823	Clinical modifier	7204	TRIO	OMIM:618825
HP:0012823	Clinical modifier	5058	PAK1	OMIM:618158
HP:0012823	Clinical modifier	200931	SLC51A	OMIM:619484
HP:0012823	Clinical modifier	1654	DDX3X	OMIM:300958
HP:0012823	Clinical modifier	3419	IDH3A	OMIM:619007
HP:0012823	Clinical modifier	54977	SLC25A38	OMIM:205950
HP:0012823	Clinical modifier	23096	IQSEC2	OMIM:309530
HP:0012823	Clinical modifier	7284	TUFM	OMIM:610678
HP:0012823	Clinical modifier	3921	RPSA	OMIM:271400
HP:0012823	Clinical modifier	26278	SACS	OMIM:270550
HP:0012823	Clinical modifier	55599	RNPC3	OMIM:618160
HP:0012823	Clinical modifier	80267	EDEM3	OMIM:619493
HP:0012823	Clinical modifier	63899	NSUN3	OMIM:619012
HP:0012823	Clinical modifier	1315	COPB1	OMIM:619255
HP:0012823	Clinical modifier	8831	SYNGAP1	OMIM:612621
HP:0012823	Clinical modifier	203190	LGI3	OMIM:620007
HP:0012823	Clinical modifier	11043	MID2	OMIM:300928
HP:0012823	Clinical modifier	4644	MYO5A	OMIM:214450
HP:0012823	Clinical modifier	5903	RANBP2	OMIM:608033
HP:0012823	Clinical modifier	2801	GOLGA2	OMIM:620240
HP:0012823	Clinical modifier	64802	NMNAT1	OMIM:619260
HP:0012823	Clinical modifier	64802	NMNAT1	OMIM:608553
HP:0012823	Clinical modifier	64432	MRPS25	OMIM:619025
HP:0012823	Clinical modifier	375056	MIA3	OMIM:619269
HP:0012823	Clinical modifier	1496	CTNNA2	OMIM:618174
HP:0012823	Clinical modifier	83550	GPR101	OMIM:300942
HP:0012823	Clinical modifier	6326	SCN2A	OMIM:613721
HP:0012823	Clinical modifier	6326	SCN2A	OMIM:607745
HP:0012823	Clinical modifier	23236	PLCB1	OMIM:613722
HP:0012823	Clinical modifier	5256	PHKA2	OMIM:306000
HP:0012823	Clinical modifier	5696	PSMB8	OMIM:256040
HP:0012823	Clinical modifier	6235	RPS29	OMIM:615909
HP:0012823	Clinical modifier	2760	GM2A	OMIM:272750
HP:0012823	Clinical modifier	4693	NDP	OMIM:305390
HP:0012823	Clinical modifier	4693	NDP	OMIM:310600
HP:0012823	Clinical modifier	5138	PDE2A	OMIM:619150
HP:0012823	Clinical modifier	64374	SIL1	OMIM:248800
HP:0012823	Clinical modifier	6535	SLC6A8	OMIM:300352
HP:0012823	Clinical modifier	26960	NBEA	OMIM:619157
HP:0012823	Clinical modifier	1183	CLCN4	OMIM:300114
HP:0012823	Clinical modifier	27178	IL37	OMIM:619398
HP:0012823	Clinical modifier	80308	FLAD1	OMIM:255100
HP:0012823	Clinical modifier	10312	TCIRG1	OMIM:259700
HP:0012823	Clinical modifier	4598	MVK	OMIM:260920
HP:0012823	Clinical modifier	4598	MVK	OMIM:610377
HP:0012823	Clinical modifier	781	CACNA2D1	OMIM:620149
HP:0012823	Clinical modifier	6165	RPL35A	OMIM:612528
HP:0012823	Clinical modifier	51343	FZR1	OMIM:620145
HP:0012823	Clinical modifier	10093	ARPC4	OMIM:620141
HP:0012823	Clinical modifier	146167	SLC38A8	OMIM:609218
HP:0012823	Clinical modifier	23149	FCHO1	OMIM:619164
HP:0012823	Clinical modifier	51506	UFC1	OMIM:618076
HP:0012823	Clinical modifier	644096	SDHAF1	OMIM:619166
HP:0012823	Clinical modifier	80055	PGAP1	OMIM:615802
HP:0012823	Clinical modifier	10978	CLP1	OMIM:615803
HP:0012823	Clinical modifier	771	CA12	OMIM:143860
HP:0012823	Clinical modifier	3988	LIPA	OMIM:620151
HP:0012823	Clinical modifier	3988	LIPA	OMIM:278000
HP:0012823	Clinical modifier	7175	TPR	OMIM:620393
HP:0012823	Clinical modifier	58528	RRAGD	OMIM:620152
HP:0012823	Clinical modifier	6197	RPS6KA3	OMIM:303600
HP:0012823	Clinical modifier	966	CD59	OMIM:612300
HP:0012823	Clinical modifier	2538	G6PC1	OMIM:232200
HP:0012823	Clinical modifier	3953	LEPR	OMIM:614963
HP:0012823	Clinical modifier	26504	CNNM4	OMIM:217080
HP:0012823	Clinical modifier	64087	MCCC2	OMIM:210210
HP:0012823	Clinical modifier	56984	PSMG2	OMIM:619183
HP:0012823	Clinical modifier	815	CAMK2A	OMIM:618095
HP:0012823	Clinical modifier	815	CAMK2A	OMIM:617798
HP:0012823	Clinical modifier	1591	CYP24A1	OMIM:143880
HP:0012823	Clinical modifier	4915	NTRK2	OMIM:613886
HP:0012823	Clinical modifier	113235	SLC46A1	OMIM:229050
HP:0012823	Clinical modifier	10522	DEAF1	OMIM:615828
HP:0012823	Clinical modifier	10522	DEAF1	OMIM:617171
HP:0012823	Clinical modifier	30011	SH3KBP1	OMIM:300310
HP:0012823	Clinical modifier	3588	IL10RB	OMIM:612567
HP:0012823	Clinical modifier	1650	DDOST	OMIM:614507
HP:0012823	Clinical modifier	55719	SLF2	OMIM:620184
HP:0012823	Clinical modifier	55343	SLC35C1	OMIM:266265
HP:0012823	Clinical modifier	79759	ZNF668	OMIM:620194
HP:0012823	Clinical modifier	283209	PGM2L1	OMIM:620191
HP:0012823	Clinical modifier	1737	DLAT	OMIM:245348
HP:0012823	Clinical modifier	23261	CAMTA1	OMIM:614756
HP:0012823	Clinical modifier	56623	INPP5E	OMIM:610156
HP:0012823	Clinical modifier	10472	ZBTB18	OMIM:612337
HP:0012823	Clinical modifier	917	CD3G	OMIM:615607
HP:0012823	Clinical modifier	6017	RLBP1	OMIM:607476
HP:0012823	Clinical modifier	1962	EHHADH	OMIM:615605
HP:0012823	Clinical modifier	84946	LTV1	OMIM:620199
HP:0012823	Clinical modifier	55084	SOBP	OMIM:613671
HP:0012823	Clinical modifier	27086	FOXP1	OMIM:613670
HP:0012823	Clinical modifier	919	CD247	OMIM:610163
HP:0012823	Clinical modifier	6929	TCF3	OMIM:616941
HP:0012823	Clinical modifier	6929	TCF3	OMIM:619824
HP:0012823	Clinical modifier	55149	MTPAP	OMIM:613672
HP:0012823	Clinical modifier	916	CD3E	OMIM:615615
HP:0012823	Clinical modifier	79718	TBL1XR1	OMIM:616944
HP:0012823	Clinical modifier	51322	WAC	OMIM:616708
HP:0012823	Clinical modifier	915	CD3D	OMIM:615617
HP:0012823	Clinical modifier	85440	DOCK7	OMIM:615859
HP:0012823	Clinical modifier	65125	WNK1	OMIM:201300
HP:0012823	Clinical modifier	5962	RDX	OMIM:611022
HP:0012823	Clinical modifier	4208	MEF2C	OMIM:613443
HP:0012823	Clinical modifier	22907	DHX30	OMIM:617804
HP:0012823	Clinical modifier	196528	ARID2	OMIM:617808
HP:0012823	Clinical modifier	57410	SCYL1	OMIM:616719
HP:0012823	Clinical modifier	9230	RAB11B	OMIM:617807
HP:0012823	Clinical modifier	10075	HUWE1	OMIM:309590
HP:0012823	Clinical modifier	348980	HCN1	OMIM:615871
HP:0012823	Clinical modifier	4688	NCF2	OMIM:233710
HP:0012823	Clinical modifier	8733	GPAA1	OMIM:617810
HP:0012823	Clinical modifier	79092	CARD14	OMIM:173200
HP:0012823	Clinical modifier	89970	RSPRY1	OMIM:616723
HP:0012823	Clinical modifier	50943	FOXP3	OMIM:304790
HP:0012823	Clinical modifier	5279	PIGC	OMIM:617816
HP:0012823	Clinical modifier	79650	USB1	OMIM:604173
HP:0012823	Clinical modifier	9150	CTDP1	OMIM:604168
HP:0012823	Clinical modifier	3718	JAK3	OMIM:600802
HP:0012823	Clinical modifier	3074	HEXB	OMIM:268800
HP:0012823	Clinical modifier	5160	PDHA1	OMIM:312170
HP:0012823	Clinical modifier	11151	CORO1A	OMIM:615401
HP:0012823	Clinical modifier	6144	RPL21	OMIM:615885
HP:0012823	Clinical modifier	4792	NFKBIA	OMIM:612132
HP:0012823	Clinical modifier	2782	GNB1	OMIM:616973
HP:0012823	Clinical modifier	1545	CYP1B1	OMIM:231300
HP:0012823	Clinical modifier	50	ACO2	OMIM:614559
HP:0012823	Clinical modifier	3176	HNMT	OMIM:616739
HP:0012823	Clinical modifier	51135	IRAK4	OMIM:607676
HP:0012823	Clinical modifier	84679	SLC9A7	OMIM:301024
HP:0012823	Clinical modifier	5251	PHEX	OMIM:307800
HP:0012823	Clinical modifier	4694	NDUFA1	OMIM:301020
HP:0012823	Clinical modifier	25953	PNKD	OMIM:118800
HP:0012823	Clinical modifier	23732	FRRS1L	OMIM:616981
HP:0012823	Clinical modifier	63035	BCORL1	OMIM:301029
HP:0012823	Clinical modifier	1778	DYNC1H1	OMIM:614563
HP:0012823	Clinical modifier	6678	SPARC	OMIM:616507
HP:0012823	Clinical modifier	84693	MCEE	OMIM:251120
HP:0012823	Clinical modifier	51185	CRBN	OMIM:607417
HP:0012823	Clinical modifier	6907	TBL1X	OMIM:301033
HP:0012823	Clinical modifier	4891	SLC11A2	OMIM:206100
HP:0012823	Clinical modifier	56479	KCNQ5	OMIM:617601
HP:0012823	Clinical modifier	149461	CLDN19	OMIM:248190
HP:0012823	Clinical modifier	4914	NTRK1	OMIM:256800
HP:0012823	Clinical modifier	667	DST	OMIM:615425
HP:0012823	Clinical modifier	9863	MAGI2	OMIM:617609
HP:0012823	Clinical modifier	401138	AMTN	OMIM:617607
HP:0012823	Clinical modifier	11078	TRIOBP	OMIM:609823
HP:0012823	Clinical modifier	930	CD19	OMIM:613493
HP:0012823	Clinical modifier	8270	LAGE3	OMIM:301006
HP:0012823	Clinical modifier	55180	LINS1	OMIM:614340
HP:0012823	Clinical modifier	1213	CLTC	OMIM:617854
HP:0012823	Clinical modifier	2517	FUCA1	OMIM:230000
HP:0012823	Clinical modifier	3458	IFNG	OMIM:613254
HP:0012823	Clinical modifier	3458	IFNG	OMIM:618963
HP:0012823	Clinical modifier	10019	SH2B3	OMIM:254450
HP:0012823	Clinical modifier	811	CALR	OMIM:254450
HP:0012823	Clinical modifier	4352	MPL	OMIM:254450
HP:0012823	Clinical modifier	23040	MYT1L	OMIM:616521
HP:0012823	Clinical modifier	199221	DZIP1L	OMIM:617610
HP:0012823	Clinical modifier	64857	PLEKHG2	OMIM:616763
HP:0012823	Clinical modifier	189	AGXT	OMIM:259900
HP:0012823	Clinical modifier	80232	WDR26	OMIM:617616
HP:0012823	Clinical modifier	4329	ALDH6A1	OMIM:614105
HP:0012823	Clinical modifier	3570	IL6R	OMIM:618944
HP:0012823	Clinical modifier	3575	IL7R	OMIM:608971
HP:0012823	Clinical modifier	3060	HCRT	OMIM:161400
HP:0012823	Clinical modifier	162514	TRPV3	OMIM:614594
HP:0012823	Clinical modifier	60528	ELAC2	OMIM:615440
HP:0012823	Clinical modifier	2893	GRIA4	OMIM:617864
HP:0012823	Clinical modifier	81562	LMAN2L	OMIM:617863
HP:0012823	Clinical modifier	81562	LMAN2L	OMIM:616887
HP:0012823	Clinical modifier	51364	ZMYND10	OMIM:615444
HP:0012823	Clinical modifier	1605	DAG1	OMIM:616538
HP:0012823	Clinical modifier	5261	PHKG2	OMIM:613027
HP:0012823	Clinical modifier	84433	CARD11	OMIM:615206
HP:0012823	Clinical modifier	5873	RAB27A	OMIM:607624
HP:0012823	Clinical modifier	54888	NSUN2	OMIM:611091
HP:0012823	Clinical modifier	54802	TRIT1	OMIM:617873
HP:0012823	Clinical modifier	51081	MRPS7	OMIM:617872
HP:0012823	Clinical modifier	1537	CYC1	OMIM:615453
HP:0012823	Clinical modifier	9731	CEP104	OMIM:616781
HP:0012823	Clinical modifier	9731	CEP104	OMIM:619988
HP:0012823	Clinical modifier	5295	PIK3R1	OMIM:615214
HP:0012823	Clinical modifier	5295	PIK3R1	OMIM:616005
HP:0012823	Clinical modifier	4724	NDUFS4	OMIM:252010
HP:0012823	Clinical modifier	5449	POU1F1	OMIM:613038
HP:0012823	Clinical modifier	23389	MED13L	OMIM:616789
HP:0012823	Clinical modifier	84059	ADGRV1	OMIM:604352
HP:0012823	Clinical modifier	8139	GAN	OMIM:256850
HP:0012823	Clinical modifier	55553	SOX6	OMIM:618971
HP:0012823	Clinical modifier	51075	TMX2	OMIM:618730
HP:0012823	Clinical modifier	8884	SLC5A6	OMIM:618973
HP:0012823	Clinical modifier	721	C4B	OMIM:614379
HP:0012823	Clinical modifier	10892	MALT1	OMIM:615468
HP:0012823	Clinical modifier	10844	TUBGCP2	OMIM:618737
HP:0012823	Clinical modifier	55367	PIDD1	OMIM:619827
HP:0012823	Clinical modifier	109	ADCY3	OMIM:617885
HP:0012823	Clinical modifier	7252	TSHB	OMIM:275100
HP:0012823	Clinical modifier	3551	IKBKB	OMIM:615592
HP:0012823	Clinical modifier	8367	H4C5	OMIM:619950
HP:0012823	Clinical modifier	8294	H4C9	OMIM:619951
HP:0012823	Clinical modifier	9860	LRIG2	OMIM:615112
HP:0012823	Clinical modifier	5723	PSPH	OMIM:614023
HP:0012823	Clinical modifier	9524	TECR	OMIM:614020
HP:0012823	Clinical modifier	2895	GRID2	OMIM:616204
HP:0012823	Clinical modifier	84818	IL17RC	OMIM:616445
HP:0012823	Clinical modifier	4860	PNP	OMIM:613179
HP:0012823	Clinical modifier	84942	WDR73	OMIM:251300
HP:0012823	Clinical modifier	9380	GRHPR	OMIM:260000
HP:0012823	Clinical modifier	4522	MTHFD1	OMIM:617780
HP:0012823	Clinical modifier	3021	H3-3B	OMIM:619721
HP:0012823	Clinical modifier	10026	PIGK	OMIM:618879
HP:0012823	Clinical modifier	51111	KMT5B	OMIM:617788
HP:0012823	Clinical modifier	1106	CHD2	OMIM:615369
HP:0012823	Clinical modifier	2670	GFAP	OMIM:203450
HP:0012823	Clinical modifier	65082	VPS33A	OMIM:617303
HP:0012823	Clinical modifier	10730	YME1L1	OMIM:617302
HP:0012823	Clinical modifier	10565	ARFGEF1	OMIM:619964
HP:0012823	Clinical modifier	8309	ACOX2	OMIM:617308
HP:0012823	Clinical modifier	5610	EIF2AK2	OMIM:618877
HP:0012823	Clinical modifier	57156	TMEM63C	OMIM:619966
HP:0012823	Clinical modifier	27102	EIF2AK1	OMIM:618878
HP:0012823	Clinical modifier	3781	KCNN2	OMIM:619725
HP:0012823	Clinical modifier	120227	CYP2R1	OMIM:600081
HP:0012823	Clinical modifier	140803	TRPM6	OMIM:602014
HP:0012823	Clinical modifier	10559	SLC35A1	OMIM:603585
HP:0012823	Clinical modifier	83696	TRAPPC9	OMIM:613192
HP:0012823	Clinical modifier	60561	RINT1	OMIM:618641
HP:0012823	Clinical modifier	129685	TAF8	OMIM:619972
HP:0012823	Clinical modifier	51319	RSRC1	OMIM:618402
HP:0012823	Clinical modifier	85365	ALG2	OMIM:616228
HP:0012823	Clinical modifier	85365	ALG2	OMIM:607906
HP:0012823	Clinical modifier	4323	MMP14	OMIM:277950
HP:0012823	Clinical modifier	1834	DSPP	OMIM:125420
HP:0012823	Clinical modifier	2688	GH1	OMIM:262400
HP:0012823	Clinical modifier	6712	SPTBN2	OMIM:615386
HP:0012823	Clinical modifier	6712	SPTBN2	OMIM:600224
HP:0012823	Clinical modifier	4174	MCM5	OMIM:617564
HP:0012823	Clinical modifier	28755	TRAC	OMIM:615387
HP:0012823	Clinical modifier	57178	ZMIZ1	OMIM:618659
HP:0012823	Clinical modifier	388962	BOLA3	OMIM:614299
HP:0012823	Clinical modifier	2783	GNB2	OMIM:619503
HP:0012823	Clinical modifier	79731	NARS2	OMIM:616239
HP:0012823	Clinical modifier	55623	THUMPD1	OMIM:619989
HP:0012823	Clinical modifier	55361	PI4K2A	OMIM:620732
HP:0012823	Clinical modifier	284439	SLC25A42	OMIM:618416
HP:0012823	Clinical modifier	112476	PRRT2	OMIM:605751
HP:0012823	Clinical modifier	610	HCN2	OMIM:602477
HP:0012823	Clinical modifier	51594	NBAS	OMIM:616483
HP:0012823	Clinical modifier	10043	TOM1	OMIM:619510
HP:0012823	Clinical modifier	85301	COL27A1	OMIM:615155
HP:0012823	Clinical modifier	142680	SLC34A3	OMIM:241530
HP:0012823	Clinical modifier	65080	MRPL44	OMIM:615395
HP:0012823	Clinical modifier	27089	UQCRQ	OMIM:615159
HP:0012823	Clinical modifier	7381	UQCRB	OMIM:615158
HP:0012823	Clinical modifier	59335	PRDM12	OMIM:616488
HP:0012823	Clinical modifier	2550	GABBR1	OMIM:620502
HP:0012823	Clinical modifier	23474	ETHE1	OMIM:602473
HP:0012823	Clinical modifier	166785	MMAA	OMIM:251100
HP:0012823	Clinical modifier	5551	PRF1	OMIM:603553
HP:0012823	Clinical modifier	8676	STX11	OMIM:603552
HP:0012823	Clinical modifier	7750	ZMYM2	OMIM:619522
HP:0012823	Clinical modifier	5971	RELB	OMIM:617585
HP:0012823	Clinical modifier	4849	CNOT3	OMIM:618672
HP:0012823	Clinical modifier	6942	TCF20	OMIM:618430
HP:0012823	Clinical modifier	6121	RPE65	OMIM:204100
HP:0012823	Clinical modifier	6621	SNAPC4	OMIM:620515
HP:0012823	Clinical modifier	10297	APC2	OMIM:618677
HP:0012823	Clinical modifier	10297	APC2	OMIM:617169
HP:0012823	Clinical modifier	9338	TCEAL1	OMIM:301094
HP:0012823	Clinical modifier	23162	MAPK8IP3	OMIM:618443
HP:0012823	Clinical modifier	3978	LIG1	OMIM:619774
HP:0012823	Clinical modifier	284098	PIGW	OMIM:616025
HP:0012823	Clinical modifier	2562	GABRB3	OMIM:617113
HP:0012823	Clinical modifier	10848	PPP1R13L	OMIM:620519
HP:0012823	Clinical modifier	84522	JAGN1	OMIM:616022
HP:0012823	Clinical modifier	388662	SLC6A17	OMIM:616269
HP:0012823	Clinical modifier	2678	GGT1	OMIM:231950
HP:0012823	Clinical modifier	5271	SERPINB8	OMIM:617115
HP:0012823	Clinical modifier	1107	CHD3	OMIM:618205
HP:0012823	Clinical modifier	387733	IFITM5	OMIM:610967
HP:0012823	Clinical modifier	64421	DCLRE1C	OMIM:602450
HP:0012823	Clinical modifier	57192	MCOLN1	OMIM:252650
HP:0012823	Clinical modifier	3756	KCNH1	OMIM:611816
HP:0012823	Clinical modifier	51311	TLR8	OMIM:301078
HP:0012823	Clinical modifier	258	AMBN	OMIM:616270
HP:0012823	Clinical modifier	2000	ELF4	OMIM:301074
HP:0012823	Clinical modifier	81704	DOCK8	OMIM:243700
HP:0012823	Clinical modifier	27077	B9D1	OMIM:617120
HP:0012823	Clinical modifier	133686	NADK2	OMIM:616034
HP:0012823	Clinical modifier	6730	SRP68	OMIM:620534
HP:0012823	Clinical modifier	6857	SYT1	OMIM:618218
HP:0012823	Clinical modifier	6778	STAT6	OMIM:620532
HP:0012823	Clinical modifier	140679	SLC32A1	OMIM:620774
HP:0012823	Clinical modifier	9900	SV2A	OMIM:620772
HP:0012823	Clinical modifier	10456	HAX1	OMIM:610738
HP:0012823	Clinical modifier	4723	NDUFV1	OMIM:618225
HP:0012823	Clinical modifier	30000	TNPO2	OMIM:619556
HP:0012823	Clinical modifier	79705	LRRK1	OMIM:615198
HP:0012823	Clinical modifier	51728	POLR3K	OMIM:619310
HP:0012823	Clinical modifier	83548	COG3	OMIM:620546
HP:0012823	Clinical modifier	55628	ZNF407	OMIM:619557
HP:0012823	Clinical modifier	51412	ACTL6B	OMIM:618470
HP:0012823	Clinical modifier	1536	CYBB	OMIM:300645
HP:0012823	Clinical modifier	831	CAST	OMIM:616295
HP:0012823	Clinical modifier	51103	NDUFAF1	OMIM:618234
HP:0012823	Clinical modifier	79868	ALG13	OMIM:300884
HP:0012823	Clinical modifier	6651	SON	OMIM:617140
HP:0012823	Clinical modifier	51601	LIPT1	OMIM:616299
HP:0012823	Clinical modifier	22861	NLRP1	OMIM:617388
HP:0012823	Clinical modifier	23030	KDM4B	OMIM:619320
HP:0012823	Clinical modifier	8893	EIF2B5	OMIM:620315
HP:0012823	Clinical modifier	157922	CAMSAP1	OMIM:620316
HP:0012823	Clinical modifier	137682	NDUFAF6	OMIM:618239
HP:0012823	Clinical modifier	5010	CLDN11	OMIM:619328
HP:0012823	Clinical modifier	9622	KLK4	OMIM:204700
HP:0012823	Clinical modifier	81858	SHARPIN	OMIM:620795
HP:0012823	Clinical modifier	9126	SMC3	OMIM:610759
HP:0012823	Clinical modifier	79944	L2HGDH	OMIM:236792
HP:0012823	Clinical modifier	10166	SLC25A15	OMIM:238970
HP:0012823	Clinical modifier	1725	DHPS	OMIM:618480
HP:0012823	Clinical modifier	3192	HNRNPU	OMIM:617391
HP:0012823	Clinical modifier	56915	EXOSC5	OMIM:619576
HP:0012823	Clinical modifier	79955	PDZD7	OMIM:618003
HP:0012823	Clinical modifier	22796	COG2	OMIM:617395
HP:0012823	Clinical modifier	2560	GABRB1	OMIM:617153
HP:0012823	Clinical modifier	112939	NACC1	OMIM:617393
HP:0012823	Clinical modifier	2707	GJB3	OMIM:133200
HP:0012823	Clinical modifier	3394	IRF8	OMIM:226990
HP:0012823	Clinical modifier	123263	MTFMT	OMIM:618248
HP:0012823	Clinical modifier	51079	NDUFA13	OMIM:618249
HP:0012823	Clinical modifier	84188	FAR1	OMIM:619338
HP:0012823	Clinical modifier	10157	AASS	OMIM:238700
HP:0012823	Clinical modifier	3158	HMGCS2	OMIM:605911
HP:0012823	Clinical modifier	80324	PUS1	OMIM:600462
HP:0012823	Clinical modifier	1781	DYNC1I2	OMIM:618492
HP:0012823	Clinical modifier	7319	UBE2A	OMIM:300860
HP:0012823	Clinical modifier	774	CACNA1B	OMIM:618497
HP:0012823	Clinical modifier	26175	LYSET	OMIM:619345
HP:0012823	Clinical modifier	1053	CEBPE	OMIM:245480
HP:0012823	Clinical modifier	10845	CLPX	OMIM:618015
HP:0012823	Clinical modifier	23522	KAT6B	OMIM:603736
HP:0012823	Clinical modifier	9451	EIF2AK3	OMIM:226980
HP:0012823	Clinical modifier	51300	TIMMDC1	OMIM:618251
HP:0012823	Clinical modifier	54681	P4HTM	OMIM:618493
HP:0012823	Clinical modifier	4714	NDUFB8	OMIM:618252
HP:0012823	Clinical modifier	4126	MANBA	OMIM:248510
HP:0012823	Clinical modifier	26040	SETBP1	OMIM:616078
HP:0012823	Clinical modifier	3560	IL2RB	OMIM:618495
HP:0012823	Clinical modifier	8635	RNASET2	OMIM:612951
HP:0012823	Clinical modifier	91039	DPP9	OMIM:620331
HP:0012823	Clinical modifier	6697	SPR	OMIM:612716
HP:0012823	Clinical modifier	64864	RFX7	OMIM:620330
HP:0012823	Clinical modifier	2628	GATM	OMIM:612718
HP:0012823	Clinical modifier	164781	DAW1	OMIM:620570
HP:0012823	Clinical modifier	10771	ZMYND11	OMIM:616083
HP:0012823	Clinical modifier	11340	EXOSC8	OMIM:616081
HP:0012823	Clinical modifier	65018	PINK1	OMIM:605909
HP:0012823	Clinical modifier	139411	PTCHD1	OMIM:300830
HP:0012823	Clinical modifier	5977	DPF2	OMIM:618027
HP:0012823	Clinical modifier	10681	GNB5	OMIM:617173
HP:0012823	Clinical modifier	10681	GNB5	OMIM:617182
HP:0012823	Clinical modifier	10847	SRCAP	OMIM:619595
HP:0012823	Clinical modifier	10847	SRCAP	OMIM:136140
HP:0012823	Clinical modifier	51091	SEPSECS	OMIM:613811
HP:0012823	Clinical modifier	538	ATP7A	OMIM:309400
HP:0012823	Clinical modifier	55210	ATAD3A	OMIM:617183
HP:0012823	Clinical modifier	128240	NAXE	OMIM:617186
HP:0012823	Clinical modifier	54790	TET2	OMIM:619126
HP:0012823	Clinical modifier	10651	MTX2	OMIM:619127
HP:0012823	Clinical modifier	285	ANGPT2	OMIM:619369
HP:0012823	Clinical modifier	6566	SLC16A1	OMIM:616095
HP:0012823	Clinical modifier	22983	MAST1	OMIM:618273
HP:0012823	Clinical modifier	79143	MBOAT7	OMIM:617188
HP:0012823	Clinical modifier	226	ALDOA	OMIM:611881
HP:0012823	Clinical modifier	23031	MAST3	OMIM:620115
HP:0012823	Clinical modifier	2593	GAMT	OMIM:612736
HP:0012823	Clinical modifier	4322	MMP13	OMIM:250400
HP:0012823	Clinical modifier	1406	CRX	OMIM:613829
HP:0012823	Clinical modifier	6571	SLC18A2	OMIM:618049
HP:0012823	Clinical modifier	4935	GPR143	OMIM:300814
HP:0012823	Clinical modifier	23154	NCDN	OMIM:619373
HP:0012823	Clinical modifier	4938	OAS1	OMIM:618042
HP:0012823	Clinical modifier	57152	SLURP1	OMIM:248300
HP:0012823	Clinical modifier	9487	PIGL	OMIM:280000
HP:0012823	Clinical modifier	23418	CRB1	OMIM:613835
HP:0012823	Clinical modifier	10295	BCKDK	OMIM:614923
HP:0012823	Clinical modifier	124454	EARS2	OMIM:614924
HP:0012823	Clinical modifier	1795	DOCK3	OMIM:618292
HP:0012823	Clinical modifier	5965	RECQL	OMIM:620370
HP:0012823	Clinical modifier	6850	SYK	OMIM:619381
HP:0012823	Clinical modifier	5257	PHKB	OMIM:261750
HP:0012823	Clinical modifier	9423	NTN1	OMIM:157600
HP:0012823	Clinical modifier	1604	CD55	OMIM:226300
HP:0012823	Clinical modifier	27072	VPS41	OMIM:619389
HP:0012823	Clinical modifier	27161	AGO2	OMIM:619149
HP:0012823	Clinical modifier	87178	PNPT1	OMIM:614932
HP:0012823	Clinical modifier	10535	RNASEH2A	OMIM:610333
HP:0012823	Clinical modifier	267	AMFR	OMIM:620379
HP:0012823	Clinical modifier	90523	MLIP	OMIM:620138
HP:0012823	Clinical modifier	54938	SARS2	OMIM:613845
HP:0012823	Clinical modifier	64858	DCLRE1B	OMIM:620133
HP:0012823	Clinical modifier	26275	HIBCH	OMIM:250620
HP:0012823	Clinical modifier	121340	SP7	OMIM:613849
HP:0012823	Clinical modifier	1534	CYB561	OMIM:618182
HP:0012823	Clinical modifier	4702	NDUFA8	OMIM:619272
HP:0012823	Clinical modifier	199857	ALG14	OMIM:619031
HP:0012823	Clinical modifier	81555	YIPF5	OMIM:619278
HP:0012823	Clinical modifier	90268	OTULIN	OMIM:617099
HP:0012823	Clinical modifier	4570	MT-TN	OMIM:220110
HP:0012823	Clinical modifier	80821	DDHD1	OMIM:609340
HP:0012823	Clinical modifier	4774	NFIA	OMIM:613735
HP:0012823	Clinical modifier	1119	CHKA	OMIM:620023
HP:0012823	Clinical modifier	118987	PDZD8	OMIM:620021
HP:0012823	Clinical modifier	5293	PIK3CD	OMIM:619281
HP:0012823	Clinical modifier	3073	HEXA	OMIM:272800
HP:0012823	Clinical modifier	4983	OPHN1	OMIM:300486
HP:0012823	Clinical modifier	5176	SERPINF1	OMIM:613982
HP:0012823	Clinical modifier	3543	IGLL1	OMIM:613500
HP:0012823	Clinical modifier	2911	GRM1	OMIM:614831
HP:0012823	Clinical modifier	6507	SLC1A3	OMIM:612656
HP:0012823	Clinical modifier	29760	BLNK	OMIM:613502
HP:0012823	Clinical modifier	63908	NAPB	OMIM:620033
HP:0012823	Clinical modifier	2533	FYB1	OMIM:273900
HP:0012823	Clinical modifier	8647	ABCB11	OMIM:601847
HP:0012823	Clinical modifier	2892	GRIA3	OMIM:300699
HP:0012823	Clinical modifier	100131801	PET100	OMIM:619055
HP:0012823	Clinical modifier	9739	SETD1A	OMIM:619056
HP:0012823	Clinical modifier	191	AHCY	OMIM:613752
HP:0012823	Clinical modifier	686	BTD	OMIM:253260
HP:0012823	Clinical modifier	36	ACADSB	OMIM:610006
HP:0012823	Clinical modifier	5896	RAG1	OMIM:233650
HP:0012823	Clinical modifier	5897	RAG2	OMIM:233650
HP:0012823	Clinical modifier	10716	TBR1	OMIM:606053
HP:0012823	Clinical modifier	26523	AGO1	OMIM:620292
HP:0012823	Clinical modifier	4591	TRIM37	OMIM:253250
HP:0012823	Clinical modifier	124512	METTL23	OMIM:615942
HP:0012823	Clinical modifier	2214	FCGR3A	OMIM:615707
HP:0012823	Clinical modifier	1991	ELANE	OMIM:202700
HP:0012823	Clinical modifier	1802	DPH2	OMIM:620062
HP:0012823	Clinical modifier	443	ASPA	OMIM:271900
HP:0012823	Clinical modifier	6792	CDKL5	OMIM:300672
HP:0012823	Clinical modifier	3028	HSD17B10	OMIM:300438
HP:0012823	Clinical modifier	10290	SPEG	OMIM:615959
HP:0012823	Clinical modifier	5978	REST	OMIM:616806
HP:0012823	Clinical modifier	6789	STK4	OMIM:614868
HP:0012823	Clinical modifier	93210	PGAP3	OMIM:615716
HP:0012823	Clinical modifier	5700	PSMC1	OMIM:620071
HP:0012823	Clinical modifier	728294	D2HGDH	OMIM:600721
HP:0012823	Clinical modifier	9095	TBX19	OMIM:201400
HP:0012823	Clinical modifier	974	CD79B	OMIM:612692
HP:0012823	Clinical modifier	9568	GABBR2	OMIM:617903
HP:0012823	Clinical modifier	9568	GABBR2	OMIM:617904
HP:0012823	Clinical modifier	5591	PRKDC	OMIM:615966
HP:0012823	Clinical modifier	5336	PLCG2	OMIM:614878
HP:0012823	Clinical modifier	5336	PLCG2	OMIM:614468
HP:0012823	Clinical modifier	1811	SLC26A3	OMIM:214700
HP:0012823	Clinical modifier	9342	SNAP29	OMIM:609528
HP:0012823	Clinical modifier	9147	NEMF	OMIM:619099
HP:0012823	Clinical modifier	282809	POC1B	OMIM:615973
HP:0012823	Clinical modifier	57654	UVSSA	OMIM:614640
HP:0012823	Clinical modifier	50628	GEMIN4	OMIM:617913
HP:0012823	Clinical modifier	2056	EPO	OMIM:617911
HP:0012823	Clinical modifier	147007	TMEM199	OMIM:616829
HP:0012823	Clinical modifier	84317	CCDC115	OMIM:616828
HP:0012823	Clinical modifier	3954	LETM1	OMIM:620089
HP:0012823	Clinical modifier	1487	CTBP1	OMIM:617915
HP:0012823	Clinical modifier	506	ATP5F1B	OMIM:620085
HP:0012823	Clinical modifier	4313	MMP2	OMIM:259600
HP:0012823	Clinical modifier	92154	MTSS2	OMIM:620086
HP:0012823	Clinical modifier	23636	NUP62	OMIM:271930
HP:0012823	Clinical modifier	51004	COQ6	OMIM:614650
HP:0012823	Clinical modifier	93183	PIGM	OMIM:610293
HP:0012823	Clinical modifier	3593	IL12B	OMIM:614890
HP:0012823	Clinical modifier	867	CBL	OMIM:613563
HP:0012823	Clinical modifier	85478	CCDC65	OMIM:615504
HP:0012823	Clinical modifier	284119	CAVIN1	OMIM:613327
HP:0012823	Clinical modifier	2554	GABRA1	OMIM:615744
HP:0012823	Clinical modifier	137492	VPS37A	OMIM:614898
HP:0012823	Clinical modifier	10695	CNPY3	OMIM:617929
HP:0012823	Clinical modifier	57716	PRX	OMIM:145900
HP:0012823	Clinical modifier	1738	DLD	OMIM:246900
HP:0012823	Clinical modifier	3932	LCK	OMIM:615758
HP:0012823	Clinical modifier	53616	ADAM22	OMIM:617933
HP:0012823	Clinical modifier	4803	NGF	OMIM:608654
HP:0012823	Clinical modifier	27249	MMADHC	OMIM:277410
HP:0012823	Clinical modifier	411	ARSB	OMIM:253200
HP:0012823	Clinical modifier	57526	PCDH19	OMIM:300088
HP:0012823	Clinical modifier	55209	SETD5	OMIM:615761
HP:0012823	Clinical modifier	6813	STXBP2	OMIM:613101
HP:0012823	Clinical modifier	79631	EFL1	OMIM:617941
HP:0012823	Clinical modifier	7280	TUBB2A	OMIM:615763
HP:0012823	Clinical modifier	5429	POLH	OMIM:278750
HP:0012823	Clinical modifier	1825	DSC3	OMIM:613102
HP:0012823	Clinical modifier	56997	COQ8A	OMIM:612016
HP:0012823	Clinical modifier	91869	RFT1	OMIM:612015
HP:0012823	Clinical modifier	59067	IL21	OMIM:615767
HP:0012823	Clinical modifier	6301	SARS1	OMIM:617709
HP:0012823	Clinical modifier	1644	DDC	OMIM:608643
HP:0012823	Clinical modifier	26224	FBXL3	OMIM:606220
HP:0012823	Clinical modifier	51116	MRPS2	OMIM:617950
HP:0012823	Clinical modifier	6097	RORC	OMIM:616622
HP:0012823	Clinical modifier	51206	GP6	OMIM:614201
HP:0012823	Clinical modifier	10095	ARPC1B	OMIM:617718
HP:0012823	Clinical modifier	9056	SLC7A7	OMIM:222700
HP:0012823	Clinical modifier	3791	KDR	OMIM:602089
HP:0012823	Clinical modifier	84168	ANTXR1	OMIM:602089
HP:0012823	Clinical modifier	1641	DCX	OMIM:300067
HP:0012823	Clinical modifier	84342	COG8	OMIM:611182
HP:0012823	Clinical modifier	80185	TTI2	OMIM:615541
HP:0012823	Clinical modifier	55780	ERMARD	OMIM:615544
HP:0012823	Clinical modifier	128989	TANGO2	OMIM:616878
HP:0012823	Clinical modifier	6773	STAT2	OMIM:616636
HP:0012823	Clinical modifier	27010	TPK1	OMIM:614458
HP:0012823	Clinical modifier	7074	TIAM1	OMIM:619908
HP:0012823	Clinical modifier	51128	SAR1B	OMIM:246700
HP:0012823	Clinical modifier	51501	HIKESHI	OMIM:616881
HP:0012823	Clinical modifier	57468	SLC12A5	OMIM:616645
HP:0012823	Clinical modifier	10815	CPLX1	OMIM:617976
HP:0012823	Clinical modifier	2588	GALNS	OMIM:253000
HP:0012823	Clinical modifier	3704	ITPA	OMIM:616647
HP:0012823	Clinical modifier	5205	ATP8B1	OMIM:211600
HP:0012823	Clinical modifier	338	APOB	OMIM:615558
HP:0012823	Clinical modifier	23209	MLC1	OMIM:604004
HP:0012823	Clinical modifier	368	ABCC6	OMIM:614473
HP:0012823	Clinical modifier	5788	PTPRC	OMIM:619924
HP:0012823	Clinical modifier	4780	NFE2L2	OMIM:617744
HP:0012823	Clinical modifier	23310	NCAPD3	OMIM:617984
HP:0012823	Clinical modifier	2890	GRIA1	OMIM:619927
HP:0012823	Clinical modifier	2890	GRIA1	OMIM:619931
HP:0012823	Clinical modifier	2741	GLRA1	OMIM:149400
HP:0012823	Clinical modifier	54805	CNNM2	OMIM:616418
HP:0012823	Clinical modifier	6509	SLC1A4	OMIM:616657
HP:0012823	Clinical modifier	54676	GTPBP2	OMIM:617988
HP:0012823	Clinical modifier	1736	DKC1	OMIM:301108
HP:0012823	Clinical modifier	2819	GPD1	OMIM:614480
HP:0012823	Clinical modifier	374462	PTPRQ	OMIM:613391
HP:0012823	Clinical modifier	55023	PHIP	OMIM:617991
HP:0012823	Clinical modifier	84631	SLITRK2	OMIM:301107
HP:0012823	Clinical modifier	3454	IFNAR1	OMIM:619935
HP:0012823	Clinical modifier	6915	TBXA2R	OMIM:614009
HP:0012823	Clinical modifier	9203	ZMYM3	OMIM:301111
HP:0012823	Clinical modifier	29071	C1GALT1C1	OMIM:301110
HP:0012823	Clinical modifier	51733	UPB1	OMIM:613161
HP:0012823	Clinical modifier	101929726	MYMX	OMIM:619941
HP:0012823	Clinical modifier	23404	EXOSC2	OMIM:617763
HP:0012823	Clinical modifier	28985	MCTS1	OMIM:301115
HP:0012823	Clinical modifier	8803	SUCLA2	OMIM:612073
HP:0012823	Clinical modifier	79587	CARS2	OMIM:616672
HP:0012823	Clinical modifier	96459	FNIP1	OMIM:619705
HP:0012823	Clinical modifier	126792	B3GALT6	OMIM:615349
HP:0012823	Clinical modifier	58499	ZNF462	OMIM:618619
HP:0012823	Clinical modifier	8328	GFI1B	OMIM:187900
HP:0012823	Clinical modifier	4292	MLH1	OMIM:158320
HP:0012823	Clinical modifier	4436	MSH2	OMIM:158320
HP:0012823	Clinical modifier	5165	PDK3	OMIM:300905
HP:0012823	Clinical modifier	5894	RAF1	OMIM:615916
HP:0012823	Clinical modifier	3759	KCNJ2	OMIM:613980
HP:0012823	Clinical modifier	55034	MOCOS	OMIM:603592
HP:0012823	Clinical modifier	9211	LGI1	OMIM:600512
HP:0012823	Clinical modifier	5649	RELN	OMIM:600512
HP:0012823	Clinical modifier	64780	MICAL1	OMIM:600512
HP:0012823	Clinical modifier	64601	VPS16	OMIM:619291
HP:0012823	Clinical modifier	57449	PLEKHG5	OMIM:615376
HP:0012823	Clinical modifier	4901	NRL	OMIM:613750
HP:0012823	Clinical modifier	2702	GJA5	OMIM:614049
HP:0012823	Clinical modifier	6324	SCN1B	OMIM:615377
HP:0012823	Clinical modifier	6327	SCN2B	OMIM:615378
HP:0012823	Clinical modifier	9149	DYRK1B	OMIM:615812
HP:0012823	Clinical modifier	5350	PLN	OMIM:613874
HP:0012823	Clinical modifier	129607	CMPK2	OMIM:621018
HP:0012823	Clinical modifier	80201	HKDC1	OMIM:619614
HP:0012823	Clinical modifier	29967	LRP12	OMIM:164310
HP:0012823	Clinical modifier	29967	LRP12	OMIM:620452
HP:0012823	Clinical modifier	659	BMPR2	OMIM:178600
HP:0012823	Clinical modifier	5442	POLRMT	OMIM:619743
HP:0012823	Clinical modifier	9517	SPTLC2	OMIM:613640
HP:0012823	Clinical modifier	1600	DAB1	OMIM:615945
HP:0012823	Clinical modifier	9096	TBX18	OMIM:143400
HP:0012823	Clinical modifier	4117	MAK	OMIM:614181
HP:0012823	Clinical modifier	5255	PHKA1	OMIM:300559
HP:0012823	Clinical modifier	54902	TTC19	OMIM:615157
HP:0012823	Clinical modifier	4878	NPPA	OMIM:612201
HP:0012823	Clinical modifier	57863	CADM3	OMIM:619519
HP:0012823	Clinical modifier	7139	TNNT2	OMIM:115195
HP:0012823	Clinical modifier	7139	TNNT2	OMIM:601494
HP:0012823	Clinical modifier	60481	ELOVL5	OMIM:615957
HP:0012823	Clinical modifier	79719	AAGAB	OMIM:148600
HP:0012823	Clinical modifier	23095	KIF1B	OMIM:118210
HP:0012823	Clinical modifier	4437	MSH3	OMIM:617100
HP:0012823	Clinical modifier	11149	POPDC1	OMIM:616812
HP:0012823	Clinical modifier	6240	RRM1	OMIM:620647
HP:0012823	Clinical modifier	344658	SAMD7	OMIM:620762
HP:0012823	Clinical modifier	23676	SMPX	OMIM:301075
HP:0012823	Clinical modifier	9217	VAPB	OMIM:182980
HP:0012823	Clinical modifier	9217	VAPB	OMIM:608627
HP:0012823	Clinical modifier	59345	GNB4	OMIM:615185
HP:0012823	Clinical modifier	23093	TTLL5	OMIM:615860
HP:0012823	Clinical modifier	4069	LYZ	OMIM:620658
HP:0012823	Clinical modifier	335	APOA1	OMIM:620657
HP:0012823	Clinical modifier	8729	GBF1	OMIM:606483
HP:0012823	Clinical modifier	3741	KCNA5	OMIM:612240
HP:0012823	Clinical modifier	7555	CNBP	OMIM:602668
HP:0012823	Clinical modifier	256471	MFSD8	OMIM:616170
HP:0012823	Clinical modifier	3748	KCNC3	OMIM:605259
HP:0012823	Clinical modifier	440193	CCDC88C	OMIM:616053
HP:0012823	Clinical modifier	25814	ATXN10	OMIM:603516
HP:0012823	Clinical modifier	57798	GATAD1	OMIM:614672
HP:0012823	Clinical modifier	440275	EIF2AK4	OMIM:234810
HP:0012823	Clinical modifier	324	APC	OMIM:135290
HP:0012823	Clinical modifier	54471	MIEF1	OMIM:620550
HP:0012823	Clinical modifier	343641	TGM6	OMIM:613908
HP:0012823	Clinical modifier	5071	PRKN	OMIM:600116
HP:0012823	Clinical modifier	1181	CLCN2	OMIM:615651
HP:0012823	Clinical modifier	8622	PDE8B	OMIM:609161
HP:0012823	Clinical modifier	11080	DNAJB4	OMIM:620326
HP:0012823	Clinical modifier	1000	CDH2	OMIM:618920
HP:0012823	Clinical modifier	5837	PYGM	OMIM:232600
HP:0012823	Clinical modifier	100134444	KCNJ18	OMIM:613239
HP:0012823	Clinical modifier	55975	KLHL7	OMIM:612943
HP:0012823	Clinical modifier	116442	RAB39B	OMIM:311510
HP:0012823	Clinical modifier	2632	GBE1	OMIM:263570
HP:0012823	Clinical modifier	9445	ITM2B	OMIM:616079
HP:0012823	Clinical modifier	55800	SCN3B	OMIM:613120
HP:0012823	Clinical modifier	3178	HNRNPA1	OMIM:615424
HP:0012823	Clinical modifier	26060	APPL1	OMIM:616511
HP:0012823	Clinical modifier	10320	IKZF1	OMIM:616873
HP:0012823	Clinical modifier	2224	FDPS	OMIM:616631
HP:0012823	Clinical modifier	81790	RNF170	OMIM:608984
HP:0012823	Clinical modifier	57338	JPH3	OMIM:606438
HP:0012823	Clinical modifier	1816	DRD5	OMIM:606798
HP:0012823	Clinical modifier	55791	LRIF1	OMIM:619477
HP:0012823	Clinical modifier	84839	RAX2	OMIM:620102
HP:0012823	Clinical modifier	9094	UNC119	OMIM:620342
HP:0012823	Clinical modifier	672	BRCA1	OMIM:604370
HP:0012823	Clinical modifier	1495	CTNNA1	OMIM:608970
HP:0012823	Clinical modifier	3827	KNG1	OMIM:619363
HP:0012823	Clinical modifier	3710	ITPR3	OMIM:620111
HP:0012823	Clinical modifier	10137	RBM12	OMIM:617629
HP:0012823	Clinical modifier	9516	LITAF	OMIM:601098
HP:0012823	Clinical modifier	4131	MAP1B	OMIM:619808
HP:0012823	Clinical modifier	25978	CHMP2B	OMIM:600795
HP:0012823	Clinical modifier	6389	SDHA	OMIM:619259
HP:0012823	Clinical modifier	8651	SOCS1	OMIM:619375
HP:0012823	Clinical modifier	138050	HGSNAT	OMIM:616544
HP:0012823	Clinical modifier	7716	VEZF1	OMIM:620247
HP:0012823	Clinical modifier	92345	NAF1	OMIM:620365
HP:0012823	Clinical modifier	6609	SMPD1	OMIM:607616
HP:0012823	Clinical modifier	6103	RPGR	OMIM:300029
HP:0012823	Clinical modifier	4747	NEFL	OMIM:617882
HP:0012823	Clinical modifier	6892	TAPBP	OMIM:620814
HP:0012823	Clinical modifier	2196	FAT2	OMIM:617769
HP:0012823	Clinical modifier	3156	HMGCR	OMIM:620375
HP:0012823	Clinical modifier	55129	ANO10	OMIM:613728
HP:0012823	Clinical modifier	64170	CARD9	OMIM:212050
HP:0012823	Clinical modifier	63924	CIDEC	OMIM:615238
HP:0012823	Clinical modifier	7068	THRB	OMIM:274300
HP:0012823	Clinical modifier	27022	FOXD3	OMIM:607836
HP:0012823	Clinical modifier	81846	SBF2	OMIM:604563
HP:0012823	Clinical modifier	6772	STAT1	OMIM:614162
HP:0012823	Clinical modifier	6772	STAT1	OMIM:614892
HP:0012823	Clinical modifier	567	B2M	OMIM:241600
HP:0012823	Clinical modifier	1201	CLN3	OMIM:204200
HP:0012823	Clinical modifier	950	SCARB2	OMIM:254900
HP:0012823	Clinical modifier	29775	CARD10	OMIM:619632
HP:0012823	Clinical modifier	23767	FLRT3	OMIM:615271
HP:0012823	Clinical modifier	5800	PTPRO	OMIM:614196
HP:0012823	Clinical modifier	3373	HYAL1	OMIM:601492
HP:0012823	Clinical modifier	2395	FXN	OMIM:229300
HP:0012823	Clinical modifier	2694	CBLIF	OMIM:261000
HP:0012823	Clinical modifier	8974	P4HA2	OMIM:617238
HP:0012823	Clinical modifier	1967	EIF2B1	OMIM:603896
HP:0012823	Clinical modifier	2055	CLN8	OMIM:600143
HP:0012823	Clinical modifier	23514	SPIDR	OMIM:619665
HP:0012823	Clinical modifier	78995	HROB	OMIM:620897
HP:0012823	Clinical modifier	9210	BMP15	OMIM:300510
HP:0012823	Clinical modifier	53371	NUP54	OMIM:620427
HP:0012823	Clinical modifier	23078	VWA8	OMIM:620422
HP:0012823	Clinical modifier	55243	KIRREL1	OMIM:619201
HP:0012823	Clinical modifier	745	MYRF	OMIM:618113
HP:0012823	Clinical modifier	60509	AGBL5	OMIM:617023
HP:0012823	Clinical modifier	150	ADRA2A	OMIM:620679
HP:0012823	Clinical modifier	254394	MCM9	OMIM:616185
HP:0012823	Clinical modifier	122622	ADSS1	OMIM:617030
HP:0012823	Clinical modifier	6530	SLC6A2	OMIM:604715
HP:0012823	Clinical modifier	7275	TUB	OMIM:616188
HP:0012823	Clinical modifier	2010	EMD	OMIM:310300
HP:0012823	Clinical modifier	5611	DNAJC3	OMIM:616192
HP:0012823	Clinical modifier	55340	GIMAP5	OMIM:619463
HP:0012823	Clinical modifier	10205	MPZL2	OMIM:618145
HP:0012823	Clinical modifier	64849	SLC13A3	OMIM:618384
HP:0012823	Clinical modifier	920	CD4	OMIM:619238
HP:0012823	Clinical modifier	10486	CAP2	OMIM:620462
HP:0012823	Clinical modifier	493856	CISD2	OMIM:604928
HP:0012823	Clinical modifier	60676	PAPPA2	OMIM:619489
HP:0012823	Clinical modifier	26092	TOR1AIP1	OMIM:617072
HP:0012823	Clinical modifier	256472	TMEM151A	OMIM:620245
HP:0012823	Clinical modifier	5524	PTPA	OMIM:620482
HP:0012823	Clinical modifier	403	ARL3	OMIM:618173
HP:0012823	Clinical modifier	23500	DAAM2	OMIM:619263
HP:0012823	Clinical modifier	25793	FBXO7	OMIM:260300
HP:0012823	Clinical modifier	8910	SGCE	OMIM:159900
HP:0012823	Clinical modifier	125170	MIEF2	OMIM:619024
HP:0012823	Clinical modifier	6559	SLC12A3	OMIM:263800
HP:0012823	Clinical modifier	6342	SCP2	OMIM:613724
HP:0012823	Clinical modifier	9898	UBAP2L	OMIM:620494
HP:0012823	Clinical modifier	130557	ZNF513	OMIM:613617
HP:0012823	Clinical modifier	7879	RAB7A	OMIM:600882
HP:0012823	Clinical modifier	843	CASP10	OMIM:603909
HP:0012823	Clinical modifier	1135	CHRNA2	OMIM:610353
HP:0012823	Clinical modifier	54476	RNF216	OMIM:212840
HP:0012823	Clinical modifier	353	APRT	OMIM:614723
HP:0012823	Clinical modifier	55775	TDP1	OMIM:607250
HP:0012823	Clinical modifier	2492	FSHR	OMIM:233300
HP:0012823	Clinical modifier	6399	TRAPPC2	OMIM:313400
HP:0012823	Clinical modifier	80216	ALPK1	OMIM:614979
HP:0012823	Clinical modifier	23175	LPIN1	OMIM:268200
HP:0012823	Clinical modifier	7234	TRU-TCA1-1	OMIM:620198
HP:0012823	Clinical modifier	29119	CTNNA3	OMIM:615616
HP:0012823	Clinical modifier	23479	ISCU	OMIM:255125
HP:0012823	Clinical modifier	51308	REEP2	OMIM:615625
HP:0012823	Clinical modifier	152137	CCDC50	OMIM:607453
HP:0012823	Clinical modifier	11133	KPTN	OMIM:615637
HP:0012823	Clinical modifier	6900	CNTN2	OMIM:615400
HP:0012823	Clinical modifier	29893	PSMC3IP	OMIM:614324
HP:0012823	Clinical modifier	859	CAV3	OMIM:614321
HP:0012823	Clinical modifier	859	CAV3	OMIM:611818
HP:0012823	Clinical modifier	859	CAV3	OMIM:606072
HP:0012823	Clinical modifier	4634	MYL3	OMIM:608751
HP:0012823	Clinical modifier	3868	KRT16	OMIM:613000
HP:0012823	Clinical modifier	7098	TLR3	OMIM:613002
HP:0012823	Clinical modifier	653361	NCF1	OMIM:233700
HP:0012823	Clinical modifier	3702	ITK	OMIM:613011
HP:0012823	Clinical modifier	7043	TGFB3	OMIM:107970
HP:0012823	Clinical modifier	11235	PDCD10	OMIM:603285
HP:0012823	Clinical modifier	10319	LAMC3	OMIM:614115
HP:0012823	Clinical modifier	3661	IRF3	OMIM:616532
HP:0012823	Clinical modifier	5294	PIK3CG	OMIM:619802
HP:0012823	Clinical modifier	114327	EFHC1	OMIM:607631
HP:0012823	Clinical modifier	114327	EFHC1	OMIM:254770
HP:0012823	Clinical modifier	1297	COL9A1	OMIM:614135
HP:0012823	Clinical modifier	7293	TNFRSF4	OMIM:615593
HP:0012823	Clinical modifier	2099	ESR1	OMIM:615363
HP:0012823	Clinical modifier	92840	REEP6	OMIM:617304
HP:0012823	Clinical modifier	1476	CSTB	OMIM:254800
HP:0012823	Clinical modifier	84572	GNPTG	OMIM:252605
HP:0012823	Clinical modifier	51083	GAL	OMIM:616461
HP:0012823	Clinical modifier	9364	RAB28	OMIM:615374
HP:0012823	Clinical modifier	6445	SGCG	OMIM:253700
HP:0012823	Clinical modifier	388551	CEACAM16	OMIM:618410
HP:0012823	Clinical modifier	388551	CEACAM16	OMIM:614614
HP:0012823	Clinical modifier	285025	CCDC141	OMIM:146110
HP:0012823	Clinical modifier	9723	SEMA3E	OMIM:146110
HP:0012823	Clinical modifier	10011	SRA1	OMIM:146110
HP:0012823	Clinical modifier	2796	GNRH1	OMIM:146110
HP:0012823	Clinical modifier	81848	SPRY4	OMIM:146110
HP:0012823	Clinical modifier	389549	FEZF1	OMIM:146110
HP:0012823	Clinical modifier	389549	FEZF1	OMIM:616030
HP:0012823	Clinical modifier	55717	WDR11	OMIM:146110
HP:0012823	Clinical modifier	8822	FGF17	OMIM:146110
HP:0012823	Clinical modifier	558	AXL	OMIM:146110
HP:0012823	Clinical modifier	1848	DUSP6	OMIM:146110
HP:0012823	Clinical modifier	2798	GNRHR	OMIM:146110
HP:0012823	Clinical modifier	51271	UBAP1	OMIM:618418
HP:0012823	Clinical modifier	4053	LTBP2	OMIM:251750
HP:0012823	Clinical modifier	4808	NHLH2	OMIM:619755
HP:0012823	Clinical modifier	51284	TLR7	OMIM:301080
HP:0012823	Clinical modifier	79991	STN1	OMIM:617341
HP:0012823	Clinical modifier	84343	HPS3	OMIM:614072
HP:0012823	Clinical modifier	150274	HSCB	OMIM:619523
HP:0012823	Clinical modifier	11261	CHP1	OMIM:618438
HP:0012823	Clinical modifier	79651	RHBDF2	OMIM:148500
HP:0012823	Clinical modifier	2591	GALNT3	OMIM:211900
HP:0012823	Clinical modifier	5213	PFKM	OMIM:232800
HP:0012823	Clinical modifier	5083	PAX9	OMIM:604625
HP:0012823	Clinical modifier	3980	LIG3	OMIM:619780
HP:0012823	Clinical modifier	10142	AKAP9	OMIM:611820
HP:0012823	Clinical modifier	9138	ARHGEF1	OMIM:618459
HP:0012823	Clinical modifier	4179	CD46	OMIM:612922
HP:0012823	Clinical modifier	4722	NDUFS3	OMIM:618230
HP:0012823	Clinical modifier	8890	EIF2B4	OMIM:620314
HP:0012823	Clinical modifier	3939	LDHA	OMIM:612933
HP:0012823	Clinical modifier	4166	CHST6	OMIM:217800
HP:0012823	Clinical modifier	55863	TMEM126B	OMIM:618250
HP:0012823	Clinical modifier	112812	FDX2	OMIM:251900
HP:0012823	Clinical modifier	55229	PANK4	OMIM:619593
HP:0012823	Clinical modifier	5375	PMP2	OMIM:618279
HP:0012823	Clinical modifier	8799	PEX11B	OMIM:614920
HP:0012823	Clinical modifier	1719	DHFR	OMIM:613839
HP:0012823	Clinical modifier	51778	MYOZ2	OMIM:613838
HP:0012823	Clinical modifier	23224	SYNE2	OMIM:612999
HP:0012823	Clinical modifier	2131	EXT1	OMIM:133700
HP:0012823	Clinical modifier	55851	PSENEN	OMIM:613736
HP:0012823	Clinical modifier	55651	NHP2	OMIM:613987
HP:0012823	Clinical modifier	84634	KISS1R	OMIM:614837
HP:0012823	Clinical modifier	3604	TNFRSF9	OMIM:620282
HP:0012823	Clinical modifier	51204	TACO1	OMIM:619052
HP:0012823	Clinical modifier	7827	NPHS2	OMIM:600995
HP:0012823	Clinical modifier	1427	CRYGS	OMIM:116100
HP:0012823	Clinical modifier	116228	COX20	OMIM:619054
HP:0012823	Clinical modifier	3814	KISS1	OMIM:614842
HP:0012823	Clinical modifier	10558	SPTLC1	OMIM:620285
HP:0012823	Clinical modifier	100303755	PET117	OMIM:619063
HP:0012823	Clinical modifier	283375	SLC39A5	OMIM:615946
HP:0012823	Clinical modifier	22953	P2RX2	OMIM:608224
HP:0012823	Clinical modifier	5149	PDE6H	OMIM:610024
HP:0012823	Clinical modifier	375748	ERCC6L2	OMIM:615715
HP:0012823	Clinical modifier	3208	HPCA	OMIM:224500
HP:0012823	Clinical modifier	7274	TTPA	OMIM:277460
HP:0012823	Clinical modifier	5191	PEX7	OMIM:614879
HP:0012823	Clinical modifier	9080	CLDN9	OMIM:619093
HP:0012823	Clinical modifier	5230	PGK1	OMIM:300653
HP:0012823	Clinical modifier	2717	GLA	OMIM:301500
HP:0012823	Clinical modifier	1535	CYBA	OMIM:233690
HP:0012823	Clinical modifier	10457	GPNMB	OMIM:617920
HP:0012823	Clinical modifier	113457	TUBA3D	OMIM:617928
HP:0012823	Clinical modifier	57094	CPA6	OMIM:614417
HP:0012823	Clinical modifier	1121	CHM	OMIM:303100
HP:0012823	Clinical modifier	631	BFSP1	OMIM:611391
HP:0012823	Clinical modifier	3290	HSD11B1	OMIM:614662
HP:0012823	Clinical modifier	1776	DNASE1L3	OMIM:614420
HP:0012823	Clinical modifier	10758	TRAF3IP2	OMIM:615527
HP:0012823	Clinical modifier	387700	SLC16A12	OMIM:612018
HP:0012823	Clinical modifier	6443	SGCB	OMIM:604286
HP:0012823	Clinical modifier	9829	DNAJC6	OMIM:615528
HP:0012823	Clinical modifier	102	ADAM10	OMIM:615537
HP:0012823	Clinical modifier	2232	FDXR	OMIM:617717
HP:0012823	Clinical modifier	55857	KIZ	OMIM:615780
HP:0012823	Clinical modifier	940	CD28	OMIM:620901
HP:0012823	Clinical modifier	29929	ALG6	OMIM:603147
HP:0012823	Clinical modifier	3920	LAMP2	OMIM:300257
HP:0012823	Clinical modifier	6529	SLC6A1	OMIM:616421
HP:0012823	Clinical modifier	5538	PPT1	OMIM:256730
HP:0012823	Clinical modifier	1203	CLN5	OMIM:256731
HP:0012823	Clinical modifier	285489	DOK7	OMIM:254300
HP:0012823	Clinical modifier	3689	ITGB2	OMIM:116920
HP:0012823	Clinical modifier	6555	SLC10A2	OMIM:613291
HP:0012823	Clinical modifier	26235	FBXL4	OMIM:615471
HP:0012823	Clinical modifier	4099	MAG	OMIM:616680
HP:0012823	Clinical modifier	51399	TRAPPC4	OMIM:618741
HP:0012823	Clinical modifier	57128	LYRM4	OMIM:615595
HP:0012823	Clinical modifier	343450	KCNT2	OMIM:617771
HP:0012823	Clinical modifier	2775	GNAO1	OMIM:615473
HP:0012823	Clinical modifier	2775	GNAO1	OMIM:617493
HP:0012823	Clinical modifier	5994	RFXAP	OMIM:620817
HP:0012823	Clinical modifier	51126	NAA20	OMIM:619717
HP:0012823	Clinical modifier	1144	CHRND	OMIM:616323
HP:0012823	Clinical modifier	10059	DNM1L	OMIM:614388
HP:0012823	Clinical modifier	1355	COX15	OMIM:615119
HP:0012823	Clinical modifier	9254	CACNA2D2	OMIM:618501
HP:0012823	Clinical modifier	5361	PLXNA1	OMIM:619955
HP:0012823	Clinical modifier	3703	STT3A	OMIM:619714
HP:0012823	Clinical modifier	4552	MTRR	OMIM:236270
HP:0012823	Clinical modifier	7259	TSPYL1	OMIM:608800
HP:0012823	Clinical modifier	6729	SRP54	OMIM:618752
HP:0012823	Clinical modifier	65993	MRPS34	OMIM:617664
HP:0012823	Clinical modifier	396	ARHGDIA	OMIM:615244
HP:0012823	Clinical modifier	51741	WWOX	OMIM:616211
HP:0012823	Clinical modifier	4141	MARS1	OMIM:615486
HP:0012823	Clinical modifier	387787	LIPT2	OMIM:617668
HP:0012823	Clinical modifier	477	ATP1A2	OMIM:619605
HP:0012823	Clinical modifier	9200	HACD1	OMIM:619967
HP:0012823	Clinical modifier	5189	PEX1	OMIM:214100
HP:0012823	Clinical modifier	535	ATP6V0A1	OMIM:619971
HP:0012823	Clinical modifier	55687	TRMU	OMIM:613070
HP:0012823	Clinical modifier	23250	ATP11A	OMIM:619851
HP:0012823	Clinical modifier	9698	PUM1	OMIM:620719
HP:0012823	Clinical modifier	103	ADAR	OMIM:615010
HP:0012823	Clinical modifier	130589	GALM	OMIM:618881
HP:0012823	Clinical modifier	79797	ZNF408	OMIM:616468
HP:0012823	Clinical modifier	10352	WARS2	OMIM:619738
HP:0012823	Clinical modifier	6573	SLC19A1	OMIM:620603
HP:0012823	Clinical modifier	7920	ABHD16A	OMIM:619735
HP:0012823	Clinical modifier	85465	SELENOI	OMIM:618768
HP:0012823	Clinical modifier	157680	VPS13B	OMIM:216550
HP:0012823	Clinical modifier	1716	DGUOK	OMIM:251880
HP:0012823	Clinical modifier	84504	NKX6-2	OMIM:617560
HP:0012823	Clinical modifier	283987	HID1	OMIM:619983
HP:0012823	Clinical modifier	1303	COL12A1	OMIM:616470
HP:0012823	Clinical modifier	64121	RRAGC	OMIM:620609
HP:0012823	Clinical modifier	57231	SNX14	OMIM:616354
HP:0012823	Clinical modifier	790955	UQCC3	OMIM:616111
HP:0012823	Clinical modifier	253738	EBF3	OMIM:617330
HP:0012823	Clinical modifier	11154	AP4S1	OMIM:614067
HP:0012823	Clinical modifier	152110	NEK10	OMIM:618781
HP:0012823	Clinical modifier	3769	KCNJ13	OMIM:614186
HP:0012823	Clinical modifier	805	CALM2	OMIM:616249
HP:0012823	Clinical modifier	1182	CLCN3	OMIM:619517
HP:0012823	Clinical modifier	801	CALM1	OMIM:616247
HP:0012823	Clinical modifier	1660	DHX9	OMIM:620988
HP:0012823	Clinical modifier	2592	GALT	OMIM:230400
HP:0012823	Clinical modifier	7701	ZNF142	OMIM:618425
HP:0012823	Clinical modifier	8021	NUP214	OMIM:618426
HP:0012823	Clinical modifier	2643	GCH1	OMIM:233910
HP:0012823	Clinical modifier	4191	MDH2	OMIM:617339
HP:0012823	Clinical modifier	6523	SLC5A1	OMIM:606824
HP:0012823	Clinical modifier	11234	HPS5	OMIM:614074
HP:0012823	Clinical modifier	11311	VPS45	OMIM:615285
HP:0012823	Clinical modifier	10991	SLC38A3	OMIM:619881
HP:0012823	Clinical modifier	6506	SLC1A2	OMIM:617105
HP:0012823	Clinical modifier	55072	RNF31	OMIM:620632
HP:0012823	Clinical modifier	9562	MINPP1	OMIM:619527
HP:0012823	Clinical modifier	487	ATP2A1	OMIM:601003
HP:0012823	Clinical modifier	92749	DRC1	OMIM:615294
HP:0012823	Clinical modifier	6843	VAMP1	OMIM:618323
HP:0012823	Clinical modifier	54941	RNF125	OMIM:616260
HP:0012823	Clinical modifier	326	AIRE	OMIM:240300
HP:0012823	Clinical modifier	51227	PIGP	OMIM:617599
HP:0012823	Clinical modifier	3172	HNF4A	OMIM:616026
HP:0012823	Clinical modifier	54148	MRPL39	OMIM:620646
HP:0012823	Clinical modifier	54532	USP53	OMIM:619658
HP:0012823	Clinical modifier	1585	CYP11B2	OMIM:610600
HP:0012823	Clinical modifier	1585	CYP11B2	OMIM:203400
HP:0012823	Clinical modifier	79645	CLXN	OMIM:620642
HP:0012823	Clinical modifier	6595	SMARCA2	OMIM:601358
HP:0012823	Clinical modifier	27247	NFU1	OMIM:605711
HP:0012823	Clinical modifier	345643	MCIDAS	OMIM:618695
HP:0012823	Clinical modifier	93233	ODAD1	OMIM:615067
HP:0012823	Clinical modifier	55151	TMEM38B	OMIM:615066
HP:0012823	Clinical modifier	113220	KIF12	OMIM:619662
HP:0012823	Clinical modifier	27133	KCNH5	OMIM:620537
HP:0012823	Clinical modifier	27429	HTRA2	OMIM:617248
HP:0012823	Clinical modifier	5813	PURA	OMIM:616158
HP:0012823	Clinical modifier	5910	RAP1GDS1	OMIM:620655
HP:0012823	Clinical modifier	2582	GALE	OMIM:620776
HP:0012823	Clinical modifier	3242	HPD	OMIM:276710
HP:0012823	Clinical modifier	8905	AP1S2	OMIM:304340
HP:0012823	Clinical modifier	139212	DNAAF6	OMIM:300991
HP:0012823	Clinical modifier	695	BTK	OMIM:300755
HP:0012823	Clinical modifier	4728	NDUFS8	OMIM:618222
HP:0012823	Clinical modifier	1499	CTNNB1	OMIM:615075
HP:0012823	Clinical modifier	1441	CSF3R	OMIM:617014
HP:0012823	Clinical modifier	10765	KDM5B	OMIM:618109
HP:0012823	Clinical modifier	359	AQP2	OMIM:125800
HP:0012823	Clinical modifier	54973	INTS11	OMIM:620428
HP:0012823	Clinical modifier	4719	NDUFS1	OMIM:618226
HP:0012823	Clinical modifier	55746	NUP133	OMIM:618349
HP:0012823	Clinical modifier	4720	NDUFS2	OMIM:618228
HP:0012823	Clinical modifier	9526	MPDU1	OMIM:609180
HP:0012823	Clinical modifier	4729	NDUFV2	OMIM:618229
HP:0012823	Clinical modifier	8737	RIPK1	OMIM:618108
HP:0012823	Clinical modifier	3032	HADHB	OMIM:620300
HP:0012823	Clinical modifier	3786	KCNQ3	OMIM:121201
HP:0012823	Clinical modifier	10102	TSFM	OMIM:610505
HP:0012823	Clinical modifier	3785	KCNQ2	OMIM:121200
HP:0012823	Clinical modifier	3785	KCNQ2	OMIM:613720
HP:0012823	Clinical modifier	128869	PIGU	OMIM:618590
HP:0012823	Clinical modifier	58484	NLRC4	OMIM:616050
HP:0012823	Clinical modifier	5515	PPP2CA	OMIM:618354
HP:0012823	Clinical modifier	55610	VPS50	OMIM:619685
HP:0012823	Clinical modifier	6514	SLC2A2	OMIM:227810
HP:0012823	Clinical modifier	23114	NFASC	OMIM:618356
HP:0012823	Clinical modifier	4695	NDUFA2	OMIM:618235
HP:0012823	Clinical modifier	3561	IL2RG	OMIM:300400
HP:0012823	Clinical modifier	126328	NDUFA11	OMIM:618236
HP:0012823	Clinical modifier	6809	STX3	OMIM:619446
HP:0012823	Clinical modifier	8867	SYNJ1	OMIM:617389
HP:0012823	Clinical modifier	10659	CELF2	OMIM:619561
HP:0012823	Clinical modifier	3745	KCNB1	OMIM:616056
HP:0012823	Clinical modifier	4726	NDUFS6	OMIM:618232
HP:0012823	Clinical modifier	6833	ABCC8	OMIM:240800
HP:0012823	Clinical modifier	1130	LYST	OMIM:214500
HP:0012823	Clinical modifier	5698	PSMB9	OMIM:620796
HP:0012823	Clinical modifier	8869	ST3GAL5	OMIM:609056
HP:0012823	Clinical modifier	161725	OTUD7A	OMIM:620790
HP:0012823	Clinical modifier	5934	RBL2	OMIM:619690
HP:0012823	Clinical modifier	4784	NFIX	OMIM:602535
HP:0012823	Clinical modifier	4784	NFIX	OMIM:614753
HP:0012823	Clinical modifier	3938	LCT	OMIM:223000
HP:0012823	Clinical modifier	23221	RHOBTB2	OMIM:618004
HP:0012823	Clinical modifier	4704	NDUFA9	OMIM:618247
HP:0012823	Clinical modifier	537	ATP6AP1	OMIM:300972
HP:0012823	Clinical modifier	25915	NDUFAF3	OMIM:618240
HP:0012823	Clinical modifier	7922	SLC39A7	OMIM:619693
HP:0012823	Clinical modifier	513	ATP5F1D	OMIM:618120
HP:0012823	Clinical modifier	7019	TFAM	OMIM:617156
HP:0012823	Clinical modifier	4705	NDUFA10	OMIM:618243
HP:0012823	Clinical modifier	11274	USP18	OMIM:617397
HP:0012823	Clinical modifier	6718	AKR1D1	OMIM:235555
HP:0012823	Clinical modifier	3054	HCFC1	OMIM:309541
HP:0012823	Clinical modifier	439	GET3	OMIM:620203
HP:0012823	Clinical modifier	714	C1QC	OMIM:620322
HP:0012823	Clinical modifier	10092	ARPC5	OMIM:620565
HP:0012823	Clinical modifier	6821	SUOX	OMIM:272300
HP:0012823	Clinical modifier	2898	GRIK2	OMIM:619580
HP:0012823	Clinical modifier	23258	DENND5A	OMIM:617281
HP:0012823	Clinical modifier	7161	TP73	OMIM:619466
HP:0012823	Clinical modifier	2906	GRIN2D	OMIM:617162
HP:0012823	Clinical modifier	7317	UBA1	OMIM:301830
HP:0012823	Clinical modifier	146206	CARMIL2	OMIM:618131
HP:0012823	Clinical modifier	2257	FGF12	OMIM:617166
HP:0012823	Clinical modifier	594	BCKDHB	OMIM:620698
HP:0012823	Clinical modifier	1629	DBT	OMIM:620699
HP:0012823	Clinical modifier	4548	MTR	OMIM:250940
HP:0012823	Clinical modifier	84701	COX4I2	OMIM:612714
HP:0012823	Clinical modifier	79736	TEFM	OMIM:620451
HP:0012823	Clinical modifier	3674	ITGA2B	OMIM:273800
HP:0012823	Clinical modifier	11212	PLPBP	OMIM:617290
HP:0012823	Clinical modifier	51241	COX16	OMIM:619355
HP:0012823	Clinical modifier	37	ACADVL	OMIM:201475
HP:0012823	Clinical modifier	54809	SAMD9	OMIM:617053
HP:0012823	Clinical modifier	134218	DNAJC21	OMIM:617052
HP:0012823	Clinical modifier	51095	TRNT1	OMIM:616084
HP:0012823	Clinical modifier	35	ACADS	OMIM:201470
HP:0012823	Clinical modifier	29927	SEC61A1	OMIM:617056
HP:0012823	Clinical modifier	4762	NEUROG1	OMIM:620469
HP:0012823	Clinical modifier	435	ASL	OMIM:207900
HP:0012823	Clinical modifier	5019	OXCT1	OMIM:245050
HP:0012823	Clinical modifier	9420	CYP7B1	OMIM:613812
HP:0012823	Clinical modifier	286	ANK1	OMIM:182900
HP:0012823	Clinical modifier	1041	CDSN	OMIM:270300
HP:0012823	Clinical modifier	162417	NAGS	OMIM:237310
HP:0012823	Clinical modifier	11198	SUPT16H	OMIM:619480
HP:0012823	Clinical modifier	123264	SLC51B	OMIM:619481
HP:0012823	Clinical modifier	283446	MYO1H	OMIM:619482
HP:0012823	Clinical modifier	2571	GAD1	OMIM:619124
HP:0012823	Clinical modifier	285590	SH3PXD2B	OMIM:249420
HP:0012823	Clinical modifier	374354	NHLRC2	OMIM:618278
HP:0012823	Clinical modifier	10660	LBX1	OMIM:619483
HP:0012823	Clinical modifier	2566	GABRG2	OMIM:618396
HP:0012823	Clinical modifier	3557	IL1RN	OMIM:612852
HP:0012823	Clinical modifier	539	ATP5PO	OMIM:620359
HP:0012823	Clinical modifier	91662	NLRP12	OMIM:611762
HP:0012823	Clinical modifier	51703	ACSL5	OMIM:620357
HP:0012823	Clinical modifier	55806	HR	OMIM:203655
HP:0012823	Clinical modifier	8911	CACNA1I	OMIM:620114
HP:0012823	Clinical modifier	4645	MYO5B	OMIM:251850
HP:0012823	Clinical modifier	3030	HADHA	OMIM:609015
HP:0012823	Clinical modifier	6123	RPL3L	OMIM:619371
HP:0012823	Clinical modifier	6554	SLC10A1	OMIM:619256
HP:0012823	Clinical modifier	5805	PTS	OMIM:261640
HP:0012823	Clinical modifier	2203	FBP1	OMIM:229700
HP:0012823	Clinical modifier	100	ADA	OMIM:102700
HP:0012823	Clinical modifier	383	ARG1	OMIM:207800
HP:0012823	Clinical modifier	6340	SCNN1G	OMIM:620126
HP:0012823	Clinical modifier	3295	HSD17B4	OMIM:261515
HP:0012823	Clinical modifier	875	CBS	OMIM:236200
HP:0012823	Clinical modifier	779	CACNA1S	OMIM:620246
HP:0012823	Clinical modifier	6338	SCNN1B	OMIM:620125
HP:0012823	Clinical modifier	81615	TMEM163	OMIM:620243
HP:0012823	Clinical modifier	84081	NSRP1	OMIM:620001
HP:0012823	Clinical modifier	5498	PPOX	OMIM:620483
HP:0012823	Clinical modifier	124093	CCDC78	OMIM:614807
HP:0012823	Clinical modifier	129285	PPP1R21	OMIM:619383
HP:0012823	Clinical modifier	50617	ATP6V0A4	OMIM:602722
HP:0012823	Clinical modifier	3690	ITGB3	OMIM:619267
HP:0012823	Clinical modifier	1373	CPS1	OMIM:237300
HP:0012823	Clinical modifier	284111	SLC13A5	OMIM:615905
HP:0012823	Clinical modifier	4067	LYN	OMIM:620376
HP:0012823	Clinical modifier	90952	ESAM	OMIM:620371
HP:0012823	Clinical modifier	83483	PLVAP	OMIM:618183
HP:0012823	Clinical modifier	85016	CFAP300	OMIM:618063
HP:0012823	Clinical modifier	83538	ODAD4	OMIM:617092
HP:0012823	Clinical modifier	79717	PPCS	OMIM:618189
HP:0012823	Clinical modifier	9722	NOS1AP	OMIM:619155
HP:0012823	Clinical modifier	23241	PACS2	OMIM:618067
HP:0012823	Clinical modifier	3767	KCNJ11	OMIM:610582
HP:0012823	Clinical modifier	3767	KCNJ11	OMIM:601820
HP:0012823	Clinical modifier	55325	UFSP2	OMIM:620028
HP:0012823	Clinical modifier	10667	FARS2	OMIM:614946
HP:0012823	Clinical modifier	56916	SMARCAD1	OMIM:129200
HP:0012823	Clinical modifier	57176	VARS2	OMIM:615917
HP:0012823	Clinical modifier	501	ALDH7A1	OMIM:266100
HP:0012823	Clinical modifier	9690	UBE3C	OMIM:620270
HP:0012823	Clinical modifier	6576	SLC25A1	OMIM:618197
HP:0012823	Clinical modifier	1352	COX10	OMIM:619046
HP:0012823	Clinical modifier	55788	LMBRD1	OMIM:277380
HP:0012823	Clinical modifier	3141	HLCS	OMIM:253270
HP:0012823	Clinical modifier	973	CD79A	OMIM:613501
HP:0012823	Clinical modifier	5015	OTX2	OMIM:613986
HP:0012823	Clinical modifier	9915	ARNT2	OMIM:615926
HP:0012823	Clinical modifier	57582	KCNT1	OMIM:614959
HP:0012823	Clinical modifier	56246	MRAP	OMIM:607398
HP:0012823	Clinical modifier	79048	SECISBP2	OMIM:609698
HP:0012823	Clinical modifier	275	AMT	OMIM:620398
HP:0012823	Clinical modifier	1353	COX11	OMIM:620275
HP:0012823	Clinical modifier	6439	SFTPB	OMIM:265120
HP:0012823	Clinical modifier	6005	RHAG	OMIM:185000
HP:0012823	Clinical modifier	64324	NSD1	OMIM:117550
HP:0012823	Clinical modifier	8913	CACNA1G	OMIM:618087
HP:0012823	Clinical modifier	1272	CNTN1	OMIM:612540
HP:0012823	Clinical modifier	92579	G6PC3	OMIM:612541
HP:0012823	Clinical modifier	6499	SKIC2	OMIM:614602
HP:0012823	Clinical modifier	340061	STING1	OMIM:615934
HP:0012823	Clinical modifier	8792	TNFRSF11A	OMIM:612301
HP:0012823	Clinical modifier	5624	PROC	OMIM:612304
HP:0012823	Clinical modifier	3778	KCNMA1	OMIM:609446
HP:0012823	Clinical modifier	23325	WASHC4	OMIM:615817
HP:0012823	Clinical modifier	256297	PTF1A	OMIM:615935
HP:0012823	Clinical modifier	54675	CRLS1	OMIM:620167
HP:0012823	Clinical modifier	1854	DUT	OMIM:620044
HP:0012823	Clinical modifier	79087	ALG12	OMIM:607143
HP:0012823	Clinical modifier	8802	SUCLG1	OMIM:245400
HP:0012823	Clinical modifier	132158	GLYCTK	OMIM:220120
HP:0012823	Clinical modifier	6999	TDO2	OMIM:600627
HP:0012823	Clinical modifier	50674	NEUROG3	OMIM:610370
HP:0012823	Clinical modifier	84300	UQCC2	OMIM:615824
HP:0012823	Clinical modifier	4338	MOCS2	OMIM:252160
HP:0012823	Clinical modifier	63894	VIPAS39	OMIM:613404
HP:0012823	Clinical modifier	9152	SLC6A5	OMIM:614618
HP:0012823	Clinical modifier	3055	HCK	OMIM:620296
HP:0012823	Clinical modifier	65109	UPF3B	OMIM:300676
HP:0012823	Clinical modifier	2677	GGCX	OMIM:277450
HP:0012823	Clinical modifier	5190	PEX6	OMIM:614862
HP:0012823	Clinical modifier	6774	STAT3	OMIM:615952
HP:0012823	Clinical modifier	26053	AUTS2	OMIM:615834
HP:0012823	Clinical modifier	64446	DNAI2	OMIM:612444
HP:0012823	Clinical modifier	2073	ERCC5	OMIM:278780
HP:0012823	Clinical modifier	79751	SLC25A22	OMIM:609304
HP:0012823	Clinical modifier	23600	AMACR	OMIM:214950
HP:0012823	Clinical modifier	190	NR0B1	OMIM:300200
HP:0012823	Clinical modifier	4306	NR3C2	OMIM:177735
HP:0012823	Clinical modifier	440138	ALG11	OMIM:613661
HP:0012823	Clinical modifier	54919	DNAAF5	OMIM:614874
HP:0012823	Clinical modifier	5627	PROS1	OMIM:614514
HP:0012823	Clinical modifier	114548	NLRP3	OMIM:607115
HP:0012823	Clinical modifier	7355	SLC35A2	OMIM:300896
HP:0012823	Clinical modifier	10743	RAI1	OMIM:182290
HP:0012823	Clinical modifier	9928	KIF14	OMIM:617914
HP:0012823	Clinical modifier	1634	DCN	OMIM:610048
HP:0012823	Clinical modifier	445	ASS1	OMIM:215700
HP:0012823	Clinical modifier	28962	OSTM1	OMIM:259720
HP:0012823	Clinical modifier	84978	FRMD5	OMIM:620094
HP:0012823	Clinical modifier	51251	NT5C3A	OMIM:266120
HP:0012823	Clinical modifier	10159	ATP6AP2	OMIM:300423
HP:0012823	Clinical modifier	8694	DGAT1	OMIM:615863
HP:0012823	Clinical modifier	10243	GPHN	OMIM:615501
HP:0012823	Clinical modifier	57017	COQ9	OMIM:614654
HP:0012823	Clinical modifier	57107	PDSS2	OMIM:614652
HP:0012823	Clinical modifier	3329	HSPD1	OMIM:612233
HP:0012823	Clinical modifier	22858	CILK1	OMIM:617924
HP:0012823	Clinical modifier	6664	SOX11	OMIM:615866
HP:0012823	Clinical modifier	339453	TMEM240	OMIM:607454
HP:0012823	Clinical modifier	1861	TOR1A	OMIM:128100
HP:0012823	Clinical modifier	54704	PDP1	OMIM:608782
HP:0012823	Clinical modifier	8600	TNFSF11	OMIM:259710
HP:0012823	Clinical modifier	4054	LTBP3	OMIM:617809
HP:0012823	Clinical modifier	201294	UNC13D	OMIM:608898
HP:0012823	Clinical modifier	2982	GUCY1A1	OMIM:615750
HP:0012823	Clinical modifier	7167	TPI1	OMIM:615512
HP:0012823	Clinical modifier	763	CA5A	OMIM:615751
HP:0012823	Clinical modifier	132	ADK	OMIM:614300
HP:0012823	Clinical modifier	2290	FOXG1	OMIM:613454
HP:0012823	Clinical modifier	9414	TJP2	OMIM:615878
HP:0012823	Clinical modifier	6328	SCN3A	OMIM:617935
HP:0012823	Clinical modifier	6328	SCN3A	OMIM:617938
HP:0012823	Clinical modifier	4072	EPCAM	OMIM:613217
HP:0012823	Clinical modifier	6948	TCN2	OMIM:275350
HP:0012823	Clinical modifier	2258	FGF13	OMIM:301058
HP:0012823	Clinical modifier	54768	HYDIN	OMIM:608647
HP:0012823	Clinical modifier	5443	POMC	OMIM:609734
HP:0012823	Clinical modifier	5859	QARS1	OMIM:615760
HP:0012823	Clinical modifier	10525	HYOU1	OMIM:233600
HP:0012823	Clinical modifier	54931	TRMT10C	OMIM:616974
HP:0012823	Clinical modifier	169792	GLIS3	OMIM:610199
HP:0012823	Clinical modifier	1767	DNAH5	OMIM:608644
HP:0012823	Clinical modifier	3033	HADH	OMIM:609975
HP:0012823	Clinical modifier	79572	ATP13A3	OMIM:265400
HP:0012823	Clinical modifier	10616	RBCK1	OMIM:615895
HP:0012823	Clinical modifier	26525	IL36RN	OMIM:614204
HP:0012823	Clinical modifier	6606	SMN1	OMIM:253300
HP:0012823	Clinical modifier	4594	MMUT	OMIM:251000
HP:0012823	Clinical modifier	8471	IRS4	OMIM:301035
HP:0012823	Clinical modifier	3758	KCNJ1	OMIM:241200
HP:0012823	Clinical modifier	3762	KCNJ5	OMIM:613485
HP:0012823	Clinical modifier	7421	VDR	OMIM:277440
HP:0012823	Clinical modifier	23152	CIC	OMIM:617600
HP:0012823	Clinical modifier	1729	DIAPH1	OMIM:616632
HP:0012823	Clinical modifier	5406	PNLIP	OMIM:614338
HP:0012823	Clinical modifier	326625	MMAB	OMIM:251110
HP:0012823	Clinical modifier	80270	HSD3B7	OMIM:607765
HP:0012823	Clinical modifier	11019	LIAS	OMIM:614462
HP:0012823	Clinical modifier	6812	STXBP1	OMIM:612164
HP:0012823	Clinical modifier	11222	MRPL3	OMIM:614582
HP:0012823	Clinical modifier	23568	ARL2BP	OMIM:615434
HP:0012823	Clinical modifier	3747	KCNC2	OMIM:619913
HP:0012823	Clinical modifier	94137	RP1L1	OMIM:618826
HP:0012823	Clinical modifier	6531	SLC6A3	OMIM:613135
HP:0012823	Clinical modifier	56270	WDR45B	OMIM:617977
HP:0012823	Clinical modifier	7507	XPA	OMIM:278700
HP:0012823	Clinical modifier	200894	ARL13B	OMIM:612291
HP:0012823	Clinical modifier	51816	ADA2	OMIM:615688
HP:0012823	Clinical modifier	57570	TRMT5	OMIM:616539
HP:0012823	Clinical modifier	100506658	OCLN	OMIM:251290
HP:0012823	Clinical modifier	113246	C12orf57	OMIM:218340
HP:0012823	Clinical modifier	6337	SCNN1A	OMIM:264350
HP:0012823	Clinical modifier	51	ACOX1	OMIM:264470
HP:0012823	Clinical modifier	9076	CLDN1	OMIM:607626
HP:0012823	Clinical modifier	95	ACY1	OMIM:609924
HP:0012823	Clinical modifier	10577	NPC2	OMIM:607625
HP:0012823	Clinical modifier	5879	RAC1	OMIM:617751
HP:0012823	Clinical modifier	27040	LAT	OMIM:617514
HP:0012823	Clinical modifier	55812	SPATA7	OMIM:604232
HP:0012823	Clinical modifier	2639	GCDH	OMIM:231670
HP:0012823	Clinical modifier	18	ABAT	OMIM:613163
HP:0012823	Clinical modifier	7543	ZFX	OMIM:301118
HP:0012823	Clinical modifier	1794	DOCK2	OMIM:616433
HP:0012823	Clinical modifier	221927	BRAT1	OMIM:614498
HP:0012823	Clinical modifier	83544	DNAL1	OMIM:614017
HP:0012823	Clinical modifier	2746	GLUD1	OMIM:606762
HP:0012823	Clinical modifier	5052	PRDX1	OMIM:277400
HP:0012823	Clinical modifier	25974	MMACHC	OMIM:277400
HP:0012823	Clinical modifier	9990	SLC12A6	OMIM:218000
HP:0012823	Clinical modifier	7415	VCP	OMIM:616687
HP:0012823	Clinical modifier	400916	CHCHD10	OMIM:615911
HP:0012823	Clinical modifier	5111	PCNA	OMIM:615919
HP:0012823	Clinical modifier	8566	PDXK	OMIM:618511
HP:0012823	Clinical modifier	56616	DIABLO	OMIM:614152
HP:0012823	Clinical modifier	8722	CTSF	OMIM:615362
HP:0012823	Clinical modifier	10528	NOP56	OMIM:614153
HP:0012823	Clinical modifier	790	CAD	OMIM:616457
HP:0012823	Clinical modifier	8526	DGKE	OMIM:615008
HP:0012823	Clinical modifier	2273	FHL1	OMIM:300696
HP:0012823	Clinical modifier	64207	IRF2BPL	OMIM:618088
HP:0012823	Clinical modifier	7084	TK2	OMIM:609560
HP:0012823	Clinical modifier	215	ABCD1	OMIM:300100
HP:0012823	Clinical modifier	10715	CERS1	OMIM:616230
HP:0012823	Clinical modifier	83636	C19orf12	OMIM:614298
HP:0012823	Clinical modifier	246243	RNASEH1	OMIM:616479
HP:0012823	Clinical modifier	11160	ERLIN2	OMIM:611225
HP:0012823	Clinical modifier	10382	TUBB4A	OMIM:612438
HP:0012823	Clinical modifier	144165	PRICKLE1	OMIM:612437
HP:0012823	Clinical modifier	9907	AP5Z1	OMIM:613647
HP:0012823	Clinical modifier	79152	FA2H	OMIM:612319
HP:0012823	Clinical modifier	113278	SLC52A3	OMIM:211530
HP:0012823	Clinical modifier	9711	RUBCN	OMIM:615705
HP:0012823	Clinical modifier	9897	WASHC5	OMIM:603563
HP:0012823	Clinical modifier	5311	PKD2	OMIM:613095
HP:0012823	Clinical modifier	8879	SGPL1	OMIM:617575
HP:0012823	Clinical modifier	23259	DDHD2	OMIM:615033
HP:0012823	Clinical modifier	9255	AIMP1	OMIM:260600
HP:0012823	Clinical modifier	90624	LYRM7	OMIM:615838
HP:0012823	Clinical modifier	64837	KLC2	OMIM:609541
HP:0012823	Clinical modifier	6607	SMN2	OMIM:253400
HP:0012823	Clinical modifier	10908	PNPLA6	OMIM:215470
HP:0012823	Clinical modifier	23503	ZFYVE26	OMIM:270700
HP:0012823	Clinical modifier	6305	SBF1	OMIM:615284
HP:0012823	Clinical modifier	1615	DARS1	OMIM:615281
HP:0012823	Clinical modifier	4669	NAGLU	OMIM:616491
HP:0012823	Clinical modifier	122961	ISCA2	OMIM:616370
HP:0012823	Clinical modifier	9409	PEX16	OMIM:614877
HP:0012823	Clinical modifier	9440	MED17	OMIM:613668
HP:0012823	Clinical modifier	10253	SPRY2	OMIM:616818
HP:0012823	Clinical modifier	8106	PABPN1	OMIM:164300
HP:0012823	Clinical modifier	10280	SIGMAR1	OMIM:605726
HP:0012823	Clinical modifier	7369	UMOD	OMIM:162000
HP:0012823	Clinical modifier	5604	MAP2K1	OMIM:155950
HP:0012823	Clinical modifier	22906	TRAK1	OMIM:618201
HP:0012823	Clinical modifier	57679	ALS2	OMIM:205100
HP:0012823	Clinical modifier	57679	ALS2	OMIM:607225
HP:0012823	Clinical modifier	55275	VPS53	OMIM:615851
HP:0012823	Clinical modifier	10133	OPTN	OMIM:613435
HP:0012823	Clinical modifier	1384	CRAT	OMIM:617917
HP:0012823	Clinical modifier	57704	GBA2	OMIM:614409
HP:0012823	Clinical modifier	91574	MTRFR	OMIM:613559
HP:0012823	Clinical modifier	55679	LIMS2	OMIM:616827
HP:0012823	Clinical modifier	85021	REPS1	OMIM:617916
HP:0012823	Clinical modifier	51196	PLCE1	OMIM:610725
HP:0012823	Clinical modifier	5825	ABCD3	OMIM:616278
HP:0012823	Clinical modifier	79734	KCTD17	OMIM:616398
HP:0012823	Clinical modifier	51067	YARS2	OMIM:613561
HP:0012823	Clinical modifier	3658	IREB2	OMIM:618451
HP:0012823	Clinical modifier	51693	TRAPPC2L	OMIM:618331
HP:0012823	Clinical modifier	2583	B4GALNT1	OMIM:609195
HP:0012823	Clinical modifier	3912	LAMB1	OMIM:615191
HP:0012823	Clinical modifier	84706	GPT2	OMIM:616281
HP:0012823	Clinical modifier	374291	NDUFS7	OMIM:618224
HP:0012823	Clinical modifier	23516	SLC39A14	OMIM:617013
HP:0012823	Clinical modifier	10309	CCNO	OMIM:615872
HP:0012823	Clinical modifier	54832	VPS13C	OMIM:616840
HP:0012823	Clinical modifier	6442	SGCA	OMIM:608099
HP:0012823	Clinical modifier	6548	SLC9A1	OMIM:616291
HP:0012823	Clinical modifier	91942	NDUFAF2	OMIM:618233
HP:0012823	Clinical modifier	3714	JAG2	OMIM:619566
HP:0012823	Clinical modifier	92667	MGME1	OMIM:615084
HP:0012823	Clinical modifier	8878	SQSTM1	OMIM:617145
HP:0012823	Clinical modifier	8878	SQSTM1	OMIM:616437
HP:0012823	Clinical modifier	80347	COASY	OMIM:615643
HP:0012823	Clinical modifier	1287	COL4A5	OMIM:301050
HP:0012823	Clinical modifier	79977	GRHL2	OMIM:608641
HP:0012823	Clinical modifier	154881	KCTD7	OMIM:611726
HP:0012823	Clinical modifier	23218	NBEAL2	OMIM:139090
HP:0012823	Clinical modifier	427	ASAH1	OMIM:159950
HP:0012823	Clinical modifier	427	ASAH1	OMIM:228000
HP:0012823	Clinical modifier	23005	MAPKBP1	OMIM:617271
HP:0012823	Clinical modifier	55967	NDUFA12	OMIM:618244
HP:0012823	Clinical modifier	4715	NDUFB9	OMIM:618245
HP:0012823	Clinical modifier	727676	SNORD118	OMIM:614561
HP:0012823	Clinical modifier	3746	KCNC1	OMIM:616187
HP:0012823	Clinical modifier	9512	PMPCB	OMIM:617954
HP:0012823	Clinical modifier	2058	EPRS1	OMIM:617951
HP:0012823	Clinical modifier	7965	AIMP2	OMIM:618006
HP:0012823	Clinical modifier	54463	RETREG1	OMIM:613115
HP:0012823	Clinical modifier	4361	MRE11	OMIM:604391
HP:0012823	Clinical modifier	9132	KCNQ4	OMIM:600101
HP:0012823	Clinical modifier	51102	MECR	OMIM:617282
HP:0012823	Clinical modifier	9757	KMT2B	OMIM:617284
HP:0012823	Clinical modifier	1814	DRD3	OMIM:190300
HP:0012823	Clinical modifier	4507	MTAP	OMIM:112250
HP:0012823	Clinical modifier	23065	EMC1	OMIM:616875
HP:0012823	Clinical modifier	80736	SLC44A4	OMIM:617606
HP:0012823	Clinical modifier	55697	VAC14	OMIM:617054
HP:0012823	Clinical modifier	81689	ISCA1	OMIM:617613
HP:0012823	Clinical modifier	1286	COL4A4	OMIM:203780
HP:0012823	Clinical modifier	4337	MOCS1	OMIM:252150
HP:0012823	Clinical modifier	3839	KPNA3	OMIM:620106
HP:0012823	Clinical modifier	1890	TYMP	OMIM:603041
HP:0012823	Clinical modifier	122553	TRAPPC6B	OMIM:617862
HP:0012823	Clinical modifier	10613	ERLIN1	OMIM:615681
HP:0012823	Clinical modifier	6253	RTN2	OMIM:604805
HP:0012823	Clinical modifier	9688	NUP93	OMIM:616892
HP:0012823	Clinical modifier	23230	VPS13A	OMIM:200150
HP:0012823	Clinical modifier	1786	DNMT1	OMIM:614116
HP:0012823	Clinical modifier	1786	DNMT1	OMIM:604121
HP:0012823	Clinical modifier	2799	GNS	OMIM:252940
HP:0012823	Clinical modifier	80208	SPG11	OMIM:604360
HP:0012823	Clinical modifier	50964	SOST	OMIM:122860
HP:0012823	Clinical modifier	3094	HINT1	OMIM:137200
HP:0012823	Clinical modifier	79934	COQ8B	OMIM:615573
HP:0012823	Clinical modifier	29920	PYCR2	OMIM:616420
HP:0012823	Clinical modifier	9197	SLC33A1	OMIM:614482
HP:0012823	Clinical modifier	8575	PRKRA	OMIM:612067
HP:0012823	Clinical modifier	7515	XRCC1	OMIM:617633
HP:0012823	Clinical modifier	10939	AFG3L2	OMIM:614487
HP:0012823	Clinical modifier	79784	MYH14	OMIM:614369
HP:0012823	Clinical modifier	23533	PIK3R5	OMIM:615217
HP:0012823	Clinical modifier	63916	ELMO2	OMIM:606893
HP:0012823	Clinical modifier	84153	RNASEH2C	OMIM:610329
HP:0012823	Clinical modifier	81494	CFHR5	OMIM:614809
HP:0012823	Clinical modifier	8086	AAAS	OMIM:231550
HP:0012823	Clinical modifier	23279	NUP160	OMIM:618178
HP:0012823	Clinical modifier	56947	MFF	OMIM:617086
HP:0012823	Clinical modifier	118429	ANTXR2	OMIM:228600
HP:0012823	Clinical modifier	4093	SMAD9	OMIM:615342
HP:0012823	Clinical modifier	55331	ACER3	OMIM:617762
HP:0012823	Clinical modifier	79902	NUP85	OMIM:618176
HP:0012823	Clinical modifier	4643	MYO1E	OMIM:614131
HP:0012823	Clinical modifier	80169	CTC1	OMIM:612199
HP:0012823	Clinical modifier	3777	KCNK3	OMIM:615344
HP:0012823	Clinical modifier	9131	AIFM1	OMIM:300816
HP:0012823	Clinical modifier	10749	KIF1C	OMIM:611302
HP:0012823	Clinical modifier	6622	SNCA	OMIM:168601
HP:0012823	Clinical modifier	8398	PLA2G6	OMIM:610217
HP:0012823	Clinical modifier	203859	ANO5	OMIM:611307
HP:0012823	Clinical modifier	50640	PNPLA8	OMIM:251950
HP:0012823	Clinical modifier	22909	FAN1	OMIM:614817
HP:0012823	Clinical modifier	7003	TEAD1	OMIM:108985
HP:0012823	Clinical modifier	1184	CLCN5	OMIM:308990
HP:0012823	Clinical modifier	90678	LRSAM1	OMIM:614436
HP:0012823	Clinical modifier	54834	GDAP2	OMIM:618369
HP:0012823	Clinical modifier	5582	PRKCG	OMIM:605361
HP:0012823	Clinical modifier	2705	GJB1	OMIM:302800
HP:0012823	Clinical modifier	81	ACTN4	OMIM:603278
HP:0012823	Clinical modifier	200403	VWA3B	OMIM:616948
HP:0012823	Clinical modifier	2896	GRN	OMIM:614706
HP:0012823	Clinical modifier	10282	BET1	OMIM:254100
HP:0012823	Clinical modifier	7957	EPM2A	OMIM:254780
HP:0012823	Clinical modifier	286676	ILDR1	OMIM:609646
HP:0012823	Clinical modifier	84617	TUBB6	OMIM:617732
HP:0012823	Clinical modifier	10846	PDE10A	OMIM:616922
HP:0012823	Clinical modifier	23203	PMPCA	OMIM:213200
HP:0012823	Clinical modifier	9474	ATG5	OMIM:617584
HP:0012823	Clinical modifier	3859	KRT12	OMIM:122100
HP:0012823	Clinical modifier	55689	YEATS2	OMIM:615127
HP:0012823	Clinical modifier	23562	CLDN14	OMIM:614035
HP:0012823	Clinical modifier	10299	MARCHF6	OMIM:613608
HP:0012823	Clinical modifier	2294	FOXF1	OMIM:265380
HP:0012823	Clinical modifier	5358	PLS3	OMIM:306950
HP:0012823	Clinical modifier	6862	TBXT	OMIM:615709
HP:0012823	Clinical modifier	55165	CEP55	OMIM:236500
HP:0012823	Clinical modifier	4716	NDUFB10	OMIM:619003
HP:0012823	Clinical modifier	23396	PIP5K1C	OMIM:611369
HP:0012823	Clinical modifier	27152	INTU	OMIM:617925
HP:0012823	Clinical modifier	2110	ETFDH	OMIM:231680
HP:0012823	Clinical modifier	2108	ETFA	OMIM:231680
HP:0012823	Clinical modifier	2109	ETFB	OMIM:231680
HP:0012823	Clinical modifier	8772	FADD	OMIM:613759
HP:0012823	Clinical modifier	27316	RBMX	OMIM:309555
HP:0012823	Clinical modifier	3155	HMGCL	OMIM:246450
HP:0012823	Clinical modifier	22872	SEC31A	OMIM:618651
HP:0012823	Clinical modifier	5331	PLCB3	OMIM:618961
HP:0012823	Clinical modifier	26503	SLC17A5	OMIM:269920
HP:0012823	Clinical modifier	84833	ATP5MK	OMIM:618683
HP:0012823	Clinical modifier	29960	MRM2	OMIM:618567
HP:0012823	Clinical modifier	219844	HYLS1	OMIM:236680
HP:0012823	Clinical modifier	5447	POR	ORPHA:95699
HP:0012823	Clinical modifier	10203	CALCRL	OMIM:618773
HP:0012823	Clinical modifier	3736	KCNA1	OMIM:160120
HP:0012823	Clinical modifier	1145	CHRNE	OMIM:608931
HP:0012823	Clinical modifier	2673	GFPT1	OMIM:608931
HP:0012823	Clinical modifier	3892	KRT86	OMIM:158000
HP:0012823	Clinical modifier	3887	KRT81	OMIM:158000
HP:0012823	Clinical modifier	3889	KRT83	OMIM:158000
HP:0012823	Clinical modifier	51750	RTEL1	OMIM:615190
HP:0012823	Clinical modifier	1291	COL6A1	OMIM:254090
HP:0012823	Clinical modifier	79621	RNASEH2B	OMIM:610181
HP:0012823	Clinical modifier	6834	SURF1	OMIM:616684
HP:0012823	Clinical modifier	56978	PRDM8	OMIM:616640
HP:0012823	Clinical modifier	51660	MPC1	OMIM:614741
HP:0012823	Clinical modifier	9927	MFN2	OMIM:609260
HP:0012823	Clinical modifier	4744	NEFH	OMIM:616924
HP:0012823	Clinical modifier	5376	PMP22	OMIM:118220
HP:0012823	Clinical modifier	5828	PEX2	OMIM:614867
HP:0012823	Clinical modifier	50937	CDON	OMIM:614226
HP:0012823	Clinical modifier	6469	SHH	OMIM:611638
HP:0012823	Clinical modifier	6469	SHH	OMIM:147250
HP:0012823	Clinical modifier	79581	SLC52A2	OMIM:614707
HP:0012823	Clinical modifier	6323	SCN1A	OMIM:604403
HP:0012823	Clinical modifier	123606	NIPA1	OMIM:600363
HP:0012823	Clinical modifier	55869	HDAC8	OMIM:300882
HP:0012823	Clinical modifier	8050	PDHX	OMIM:245349
HP:0012823	Clinical modifier	2138	EYA1	OMIM:602588
HP:0012823	Clinical modifier	2623	GATA1	OMIM:300367
HP:0012823	Clinical modifier	284217	LAMA1	OMIM:615960
HP:0012823	Clinical modifier	57122	NUP107	OMIM:616730
HP:0012823	Clinical modifier	2736	GLI2	OMIM:615849
HP:0012823	Clinical modifier	2561	GABRB2	OMIM:617829
HP:0012823	Clinical modifier	1749	DLX5	OMIM:183600
HP:0012823	Clinical modifier	124583	CANT1	OMIM:251450
HP:0012823	Clinical modifier	79147	FKRP	OMIM:607155
HP:0012823	Clinical modifier	4574	MT-TS1	OMIM:540000
HP:0012823	Clinical modifier	4575	MT-TS2	OMIM:540000
HP:0012823	Clinical modifier	4535	MT-ND1	OMIM:540000
HP:0012823	Clinical modifier	4567	MT-TL1	OMIM:540000
HP:0012823	Clinical modifier	4512	MT-CO1	OMIM:540000
HP:0012823	Clinical modifier	4513	MT-CO2	OMIM:540000
HP:0012823	Clinical modifier	4514	MT-CO3	OMIM:540000
HP:0012823	Clinical modifier	4519	MT-CYB	OMIM:540000
HP:0012823	Clinical modifier	4511	MT-TC	OMIM:540000
HP:0012823	Clinical modifier	4572	MT-TQ	OMIM:540000
HP:0012823	Clinical modifier	4577	MT-TV	OMIM:540000
HP:0012823	Clinical modifier	4578	MT-TW	OMIM:540000
HP:0012823	Clinical modifier	4558	MT-TF	OMIM:540000
HP:0012823	Clinical modifier	4566	MT-TK	OMIM:540000
HP:0012823	Clinical modifier	4540	MT-ND5	OMIM:540000
HP:0012823	Clinical modifier	4541	MT-ND6	OMIM:540000
HP:0012823	Clinical modifier	7054	TH	OMIM:605407
HP:0012823	Clinical modifier	23556	PIGN	OMIM:614080
HP:0012823	Clinical modifier	219285	SAMD9L	OMIM:159550
HP:0012823	Clinical modifier	8813	DPM1	OMIM:608799
HP:0012823	Clinical modifier	729359	PLIN4	OMIM:601846
HP:0012823	Clinical modifier	5631	PRPS1	OMIM:311070
HP:0012823	Clinical modifier	8260	NAA10	OMIM:300855
HP:0012823	Clinical modifier	2733	GLE1	OMIM:611890
HP:0012823	Clinical modifier	81545	FBXO38	OMIM:615575
HP:0012823	Clinical modifier	7450	VWF	OMIM:613554
HP:0012823	Clinical modifier	79947	DHDDS	OMIM:617836
HP:0012823	Clinical modifier	91137	SLC25A46	OMIM:616505
HP:0012823	Clinical modifier	3035	HARS1	OMIM:616625
HP:0012823	Clinical modifier	2147	F2	OMIM:613679
HP:0012823	Clinical modifier	8560	DEGS1	OMIM:618404
HP:0012823	Clinical modifier	6683	SPAST	OMIM:182601
HP:0012823	Clinical modifier	51062	ATL1	OMIM:182600
HP:0012823	Clinical modifier	5308	PITX2	OMIM:180500
HP:0012823	Clinical modifier	6513	SLC2A1	OMIM:614847
HP:0012823	Clinical modifier	84233	TMEM126A	OMIM:612989
HP:0012823	Clinical modifier	10804	GJB6	OMIM:129500
HP:0012823	Clinical modifier	4982	TNFRSF11B	OMIM:239000
HP:0012823	Clinical modifier	5860	QDPR	OMIM:261630
HP:0012823	Clinical modifier	1968	EIF2S3	OMIM:300148
HP:0012823	Clinical modifier	3832	KIF11	OMIM:152950
HP:0012823	Clinical modifier	115286	SLC25A26	OMIM:616794
HP:0012823	Clinical modifier	7170	TPM3	OMIM:255310
HP:0012823	Clinical modifier	120	ADD3	OMIM:617008
HP:0012823	Clinical modifier	2263	FGFR2	OMIM:101400
HP:0012823	Clinical modifier	7291	TWIST1	OMIM:101400
HP:0012823	Clinical modifier	55157	DARS2	OMIM:611105
HP:0012823	Clinical modifier	23064	SETX	OMIM:606002
HP:0012823	Clinical modifier	9896	FIG4	OMIM:611228
HP:0012823	Clinical modifier	6524	SLC5A2	OMIM:233100
HP:0012823	Clinical modifier	2737	GLI3	OMIM:146510
HP:0012823	Clinical modifier	2215	FCGR3B	ORPHA:464370
HP:0012823	Clinical modifier	4256	MGP	OMIM:245150
HP:0012823	Clinical modifier	3043	HBB	ORPHA:2133
HP:0012823	Clinical modifier	462	SERPINC1	ORPHA:82
HP:0012823	Clinical modifier	4618	MYF6	ORPHA:169189
HP:0012823	Clinical modifier	3209	HOXA13	ORPHA:2438
HP:0012823	Clinical modifier	213	ALB	ORPHA:86816
HP:0012823	Clinical modifier	388015	RTL1	ORPHA:96334
HP:0012823	Clinical modifier	8788	DLK1	ORPHA:96334
HP:0012823	Clinical modifier	55384	MEG3	ORPHA:96334
HP:0012823	Clinical modifier	6006	RHCE	ORPHA:71275
HP:0012823	Clinical modifier	6007	RHD	ORPHA:71275
HP:0012823	Clinical modifier	1351	COX8A	OMIM:619059
HP:0012823	Clinical modifier	149371	EXOC8	OMIM:619076
HP:0012823	Clinical modifier	6304	SATB1	OMIM:619229
HP:0012823	Clinical modifier	79879	CCDC134	OMIM:619795
HP:0012823	Clinical modifier	10112	KIF20A	OMIM:619433
HP:0012823	Clinical modifier	55388	MCM10	OMIM:619313
HP:0012823	Clinical modifier	6873	TAF2	OMIM:615599
HP:0012823	Clinical modifier	201595	STT3B	OMIM:615597
HP:0012823	Clinical modifier	5885	RAD21	OMIM:614701
HP:0012823	Clinical modifier	5396	PRRX1	OMIM:202650
HP:0012823	Clinical modifier	23363	OBSL1	OMIM:612921
HP:0012823	Clinical modifier	1062	CENPE	OMIM:616051
HP:0012823	Clinical modifier	55033	FKBP14	OMIM:614557
HP:0012823	Clinical modifier	1161	ERCC8	OMIM:216400
HP:0012823	Clinical modifier	145873	MESP2	OMIM:277300
HP:0012823	Clinical modifier	10683	DLL3	OMIM:277300
HP:0012823	Clinical modifier	64175	P3H1	OMIM:610915
HP:0012823	Clinical modifier	1146	CHRNG	OMIM:265000
HP:0012823	Clinical modifier	50619	DEF6	OMIM:619573
HP:0012823	Clinical modifier	7468	NSD2	OMIM:619695
HP:0012823	Clinical modifier	10606	PAICS	OMIM:619859
HP:0012823	Clinical modifier	64131	XYLT1	OMIM:615777
HP:0012823	Clinical modifier	23116	TOGARAM1	OMIM:619185
HP:0012823	Clinical modifier	6045	RNF2	OMIM:619460
HP:0012823	Clinical modifier	6557	SLC12A1	OMIM:601678
HP:0012823	Clinical modifier	57498	KIDINS220	OMIM:619501
HP:0012823	Clinical modifier	57498	KIDINS220	OMIM:617296
HP:0012823	Clinical modifier	80776	B9D2	OMIM:614175
HP:0012823	Clinical modifier	8985	PLOD3	OMIM:612394
HP:0012823	Clinical modifier	54872	PIGG	OMIM:616917
HP:0012823	Clinical modifier	26834	RNU4-2	OMIM:620851
HP:0012823	Clinical modifier	3572	IL6ST	OMIM:619751
HP:0012823	Clinical modifier	4629	MYH11	OMIM:619351
HP:0012823	Clinical modifier	51692	CPSF3	OMIM:619876
HP:0012823	Clinical modifier	116115	ZNF526	OMIM:619877
HP:0012823	Clinical modifier	10056	FARSB	OMIM:613658
HP:0012823	Clinical modifier	3800	KIF5C	OMIM:615282
HP:0012823	Clinical modifier	10293	TRAIP	OMIM:616777
HP:0012823	Clinical modifier	163175	LGI4	OMIM:617468
HP:0012823	Clinical modifier	55164	SHQ1	OMIM:619922
HP:0012823	Clinical modifier	23169	SLC35D1	OMIM:269250
HP:0012823	Clinical modifier	23007	PLCH1	OMIM:619895
HP:0012823	Clinical modifier	11014	KDELR2	OMIM:619131
HP:0012823	Clinical modifier	10463	SLC30A9	OMIM:617595
HP:0012823	Clinical modifier	2193	FARSA	OMIM:619013
HP:0012823	Clinical modifier	2990	GUSB	OMIM:253220
HP:0012823	Clinical modifier	2146	EZH2	OMIM:277590
HP:0012823	Clinical modifier	5557	PRIM1	OMIM:620005
HP:0012823	Clinical modifier	7473	WNT3	OMIM:273395
HP:0012823	Clinical modifier	286204	CRB2	OMIM:219730
HP:0012823	Clinical modifier	6654	SOS1	OMIM:610733
HP:0012823	Clinical modifier	282996	RBM20	OMIM:613172
HP:0012823	Clinical modifier	125150	ZSWIM7	OMIM:619831
HP:0012823	Clinical modifier	151648	SGO1	OMIM:616201
HP:0012823	Clinical modifier	253017	TECRL	OMIM:614021
HP:0012823	Clinical modifier	22880	MORC2	OMIM:616688
HP:0012823	Clinical modifier	144132	DNHD1	OMIM:619712
HP:0012823	Clinical modifier	148738	HJV	OMIM:602390
HP:0012823	Clinical modifier	4210	MEFV	OMIM:249100
HP:0012823	Clinical modifier	308	ANXA5	OMIM:614391
HP:0012823	Clinical modifier	10686	CLDN16	OMIM:248250
HP:0012823	Clinical modifier	7486	WRN	OMIM:277700
HP:0012823	Clinical modifier	10388	SYCP2	OMIM:258150
HP:0012823	Clinical modifier	8632	DNAH17	OMIM:618643
HP:0012823	Clinical modifier	23370	ARHGEF18	OMIM:617433
HP:0012823	Clinical modifier	63976	PRDM16	OMIM:615373
HP:0012823	Clinical modifier	881	CCIN	OMIM:620838
HP:0012823	Clinical modifier	10233	LRRC23	OMIM:620848
HP:0012823	Clinical modifier	221711	SYCP2L	OMIM:620840
HP:0012823	Clinical modifier	10935	PRDX3	OMIM:619862
HP:0012823	Clinical modifier	84173	ELMOD3	OMIM:619500
HP:0012823	Clinical modifier	65975	STK33	OMIM:620849
HP:0012823	Clinical modifier	55526	DHTKD1	OMIM:615025
HP:0012823	Clinical modifier	7428	VHL	OMIM:193300
HP:0012823	Clinical modifier	1111	CHEK1	OMIM:620610
HP:0012823	Clinical modifier	8295	TRRAP	OMIM:618778
HP:0012823	Clinical modifier	9529	BAG5	OMIM:619747
HP:0012823	Clinical modifier	79158	GNPTAB	OMIM:252600
HP:0012823	Clinical modifier	57639	CCDC146	OMIM:620850
HP:0012823	Clinical modifier	10594	PRPF8	OMIM:600059
HP:0012823	Clinical modifier	63982	ANO3	OMIM:615034
HP:0012823	Clinical modifier	25981	DNAH1	OMIM:617576
HP:0012823	Clinical modifier	57680	CHD8	OMIM:615032
HP:0012823	Clinical modifier	199223	TTC21A	OMIM:618429
HP:0012823	Clinical modifier	89869	PLCZ1	OMIM:617214
HP:0012823	Clinical modifier	221481	ARMC12	OMIM:620744
HP:0012823	Clinical modifier	49	ACR	OMIM:620500
HP:0012823	Clinical modifier	54456	MOV10L1	OMIM:619878
HP:0012823	Clinical modifier	55823	VPS11	OMIM:619637
HP:0012823	Clinical modifier	845	CASQ2	OMIM:604772
HP:0012823	Clinical modifier	10345	TRDN	OMIM:604772
HP:0012823	Clinical modifier	6262	RYR2	OMIM:604772
HP:0012823	Clinical modifier	1180	CLCN1	OMIM:255700
HP:0012823	Clinical modifier	9049	AIP	OMIM:102200
HP:0012823	Clinical modifier	6101	RP1	OMIM:180100
HP:0012823	Clinical modifier	6756	SSX1	OMIM:301099
HP:0012823	Clinical modifier	150365	MEI1	OMIM:618431
HP:0012823	Clinical modifier	431705	ASTL	OMIM:619643
HP:0012823	Clinical modifier	7075	TIE1	OMIM:619401
HP:0012823	Clinical modifier	154197	PNLDC1	OMIM:619528
HP:0012823	Clinical modifier	145645	TERB2	OMIM:619645
HP:0012823	Clinical modifier	283847	TERB1	OMIM:619646
HP:0012823	Clinical modifier	540	ATP7B	OMIM:277900
HP:0012823	Clinical modifier	2556	GABRA3	OMIM:301091
HP:0012823	Clinical modifier	83723	TLCD3B	OMIM:619531
HP:0012823	Clinical modifier	55779	CFAP44	OMIM:617593
HP:0012823	Clinical modifier	80217	CFAP43	OMIM:617592
HP:0012823	Clinical modifier	3423	IDS	OMIM:309900
HP:0012823	Clinical modifier	7867	MAPKAPK3	OMIM:617111
HP:0012823	Clinical modifier	84131	CEP78	OMIM:617236
HP:0012823	Clinical modifier	6578	SLCO2A1	OMIM:167100
HP:0012823	Clinical modifier	6578	SLCO2A1	OMIM:614441
HP:0012823	Clinical modifier	93953	GCNA	OMIM:301077
HP:0012823	Clinical modifier	26074	CFAP61	OMIM:620409
HP:0012823	Clinical modifier	826	CAPNS1	OMIM:620777
HP:0012823	Clinical modifier	7873	MANF	OMIM:620651
HP:0012823	Clinical modifier	2617	GARS1	OMIM:601472
HP:0012823	Clinical modifier	2617	GARS1	OMIM:600794
HP:0012823	Clinical modifier	353116	RILPL1	OMIM:619790
HP:0012823	Clinical modifier	199713	NLRP7	OMIM:231090
HP:0012823	Clinical modifier	4175	MCM6	OMIM:223100
HP:0012823	Clinical modifier	1730	DIAPH2	OMIM:300511
HP:0012823	Clinical modifier	84074	QRICH2	OMIM:618341
HP:0012823	Clinical modifier	147872	KASH5	OMIM:620548
HP:0012823	Clinical modifier	147872	KASH5	OMIM:620547
HP:0012823	Clinical modifier	11055	ZPBP	OMIM:619799
HP:0012823	Clinical modifier	79903	NAA60	OMIM:620786
HP:0012823	Clinical modifier	4023	LPL	OMIM:238600
HP:0012823	Clinical modifier	3426	CFI	OMIM:612923
HP:0012823	Clinical modifier	871	SERPINH1	OMIM:610504
HP:0012823	Clinical modifier	10049	DNAJB6	OMIM:603511
HP:0012823	Clinical modifier	317761	C14orf39	OMIM:619202
HP:0012823	Clinical modifier	84909	AOPEP	OMIM:619565
HP:0012823	Clinical modifier	402381	SOHLH1	OMIM:618115
HP:0012823	Clinical modifier	23586	RIGI	OMIM:616298
HP:0012823	Clinical modifier	122402	TDRD9	OMIM:618110
HP:0012823	Clinical modifier	402569	KPNA7	OMIM:620319
HP:0012823	Clinical modifier	140801	RPL10L	OMIM:619689
HP:0012823	Clinical modifier	8891	EIF2B3	OMIM:620313
HP:0012823	Clinical modifier	286151	FBXO43	OMIM:619696
HP:0012823	Clinical modifier	84061	MAGT1	OMIM:300853
HP:0012823	Clinical modifier	63910	SLC17A9	OMIM:616063
HP:0012823	Clinical modifier	71	ACTG1	OMIM:604717
HP:0012823	Clinical modifier	5318	PKP2	OMIM:609040
HP:0012823	Clinical modifier	254528	MEIOB	OMIM:620686
HP:0012823	Clinical modifier	254528	MEIOB	OMIM:617706
HP:0012823	Clinical modifier	11145	PLAAT3	OMIM:620683
HP:0012823	Clinical modifier	6102	RP2	OMIM:312600
HP:0012823	Clinical modifier	4864	NPC1	OMIM:257220
HP:0012823	Clinical modifier	378884	NHLRC1	OMIM:620681
HP:0012823	Clinical modifier	5130	PCYT1A	OMIM:620680
HP:0012823	Clinical modifier	4635	MYL4	OMIM:617280
HP:0012823	Clinical modifier	6795	AURKC	OMIM:243060
HP:0012823	Clinical modifier	2661	GDF9	OMIM:618014
HP:0012823	Clinical modifier	10149	ADGRG2	OMIM:300985
HP:0012823	Clinical modifier	56980	PRDM10	OMIM:620459
HP:0012823	Clinical modifier	126206	NLRP5	OMIM:620333
HP:0012823	Clinical modifier	2300	FOXL1	OMIM:620576
HP:0012823	Clinical modifier	55655	NLRP2	OMIM:620332
HP:0012823	Clinical modifier	6874	TAF4	OMIM:620450
HP:0012823	Clinical modifier	7225	TRPC6	OMIM:603965
HP:0012823	Clinical modifier	10519	CIB1	OMIM:618267
HP:0012823	Clinical modifier	8468	FKBP6	OMIM:620103
HP:0012823	Clinical modifier	27349	MCAT	OMIM:620583
HP:0012823	Clinical modifier	3181	HNRNPA2B1	OMIM:620460
HP:0012823	Clinical modifier	2335	FN1	OMIM:601894
HP:0012823	Clinical modifier	5340	PLG	OMIM:619360
HP:0012823	Clinical modifier	140732	SUN5	OMIM:617187
HP:0012823	Clinical modifier	7078	TIMP3	OMIM:136900
HP:0012823	Clinical modifier	144406	CFAP251	OMIM:618152
HP:0012823	Clinical modifier	79983	POF1B	OMIM:300604
HP:0012823	Clinical modifier	401024	FSIP2	OMIM:618153
HP:0012823	Clinical modifier	55145	THAP1	OMIM:602629
HP:0012823	Clinical modifier	84033	OBSCN	OMIM:620235
HP:0012823	Clinical modifier	10566	AKAP3	OMIM:620353
HP:0012823	Clinical modifier	7802	DNALI1	OMIM:620354
HP:0012823	Clinical modifier	6508	SLC4A3	OMIM:620231
HP:0012823	Clinical modifier	81624	DIAPH3	OMIM:609129
HP:0012823	Clinical modifier	375307	CATIP	OMIM:619379
HP:0012823	Clinical modifier	9319	TRIP13	OMIM:619011
HP:0012823	Clinical modifier	85358	SHANK3	OMIM:613950
HP:0012823	Clinical modifier	283417	DPY19L2	OMIM:613958
HP:0012823	Clinical modifier	1371	CPOX	OMIM:121300
HP:0012823	Clinical modifier	81833	SPACA1	OMIM:620490
HP:0012823	Clinical modifier	200162	SPAG17	OMIM:619380
HP:0012823	Clinical modifier	84277	DNAJC30	OMIM:619382
HP:0012823	Clinical modifier	2034	EPAS1	OMIM:611783
HP:0012823	Clinical modifier	117144	CATSPER1	OMIM:612997
HP:0012823	Clinical modifier	9935	MAFB	OMIM:166300
HP:0012823	Clinical modifier	10881	ACTL7A	OMIM:620499
HP:0012823	Clinical modifier	10861	SLC26A1	OMIM:620372
HP:0012823	Clinical modifier	124404	SEPTIN12	OMIM:614822
HP:0012823	Clinical modifier	785	CACNB4	OMIM:613855
HP:0012823	Clinical modifier	4342	MOS	OMIM:620383
HP:0012823	Clinical modifier	24148	PRPF6	OMIM:613983
HP:0012823	Clinical modifier	9128	PRPF4	OMIM:615922
HP:0012823	Clinical modifier	50940	PDE11A	OMIM:610475
HP:0012823	Clinical modifier	6521	SLC4A1	OMIM:612653
HP:0012823	Clinical modifier	991	CDC20	OMIM:620276
HP:0012823	Clinical modifier	84690	SPATA22	OMIM:621002
HP:0012823	Clinical modifier	84690	SPATA22	OMIM:621001
HP:0012823	Clinical modifier	678	ZFP36L2	OMIM:620154
HP:0012823	Clinical modifier	6452	SH3BP2	OMIM:118400
HP:0012823	Clinical modifier	57697	FANCM	OMIM:618086
HP:0012823	Clinical modifier	26277	TINF2	OMIM:613990
HP:0012823	Clinical modifier	57158	JPH2	OMIM:613873
HP:0012823	Clinical modifier	5346	PLIN1	OMIM:613877
HP:0012823	Clinical modifier	5573	PRKAR1A	OMIM:610489
HP:0012823	Clinical modifier	284656	EPHA10	OMIM:620283
HP:0012823	Clinical modifier	823	CAPN1	OMIM:616907
HP:0012823	Clinical modifier	80726	IQCN	OMIM:620170
HP:0012823	Clinical modifier	6691	SPINK2	OMIM:618091
HP:0012823	Clinical modifier	26090	ABHD12	OMIM:612674
HP:0012823	Clinical modifier	675	BRCA2	OMIM:612555
HP:0012823	Clinical modifier	9082	XKRY	OMIM:415000
HP:0012823	Clinical modifier	9084	VCY	OMIM:415000
HP:0012823	Clinical modifier	8287	USP9Y	OMIM:415000
HP:0012823	Clinical modifier	5940	RBMY1A1	OMIM:415000
HP:0012823	Clinical modifier	8653	DDX3Y	OMIM:415000
HP:0012823	Clinical modifier	86614	HSFY1	OMIM:415000
HP:0012823	Clinical modifier	9426	CDY2A	OMIM:415000
HP:0012823	Clinical modifier	9085	CDY1	OMIM:415000
HP:0012823	Clinical modifier	1617	DAZ1	OMIM:415000
HP:0012823	Clinical modifier	442862	PRY2	OMIM:415000
HP:0012823	Clinical modifier	9081	PRY	OMIM:415000
HP:0012823	Clinical modifier	9083	BPY2	OMIM:415000
HP:0012823	Clinical modifier	57054	DAZ3	OMIM:415000
HP:0012823	Clinical modifier	140032	RPS4Y2	OMIM:415000
HP:0012823	Clinical modifier	8284	KDM5D	OMIM:415000
HP:0012823	Clinical modifier	57055	DAZ2	OMIM:415000
HP:0012823	Clinical modifier	7915	ALDH5A1	OMIM:271980
HP:0012823	Clinical modifier	84138	SLC7A6OS	OMIM:619191
HP:0012823	Clinical modifier	80704	SLC19A3	OMIM:607483
HP:0012823	Clinical modifier	4438	MSH4	OMIM:108420
HP:0012823	Clinical modifier	4438	MSH4	OMIM:619938
HP:0012823	Clinical modifier	56159	TEX11	OMIM:309120
HP:0012823	Clinical modifier	80025	PANK2	OMIM:234200
HP:0012823	Clinical modifier	3251	HPRT1	OMIM:300322
HP:0012823	Clinical modifier	2908	NR3C1	OMIM:615962
HP:0012823	Clinical modifier	6875	TAF4B	OMIM:615841
HP:0012823	Clinical modifier	84225	ZMYND15	OMIM:615842
HP:0012823	Clinical modifier	164045	HFM1	OMIM:615724
HP:0012823	Clinical modifier	10734	STAG3	OMIM:615723
HP:0012823	Clinical modifier	2488	FSHB	OMIM:229070
HP:0012823	Clinical modifier	6742	SSBP1	OMIM:165510
HP:0012823	Clinical modifier	157855	KCNU1	OMIM:620196
HP:0012823	Clinical modifier	29851	ICOS	OMIM:607594
HP:0012823	Clinical modifier	91057	CCDC34	OMIM:620084
HP:0012823	Clinical modifier	219736	STOX1	OMIM:609404
HP:0012823	Clinical modifier	3300	DNAJB2	OMIM:614881
HP:0012823	Clinical modifier	10002	NR2E3	OMIM:611131
HP:0012823	Clinical modifier	26047	CNTNAP2	OMIM:610042
HP:0012823	Clinical modifier	57817	HAMP	OMIM:613313
HP:0012823	Clinical modifier	710	SERPING1	OMIM:106100
HP:0012823	Clinical modifier	26353	HSPB8	OMIM:608673
HP:0012823	Clinical modifier	50511	SYCP3	OMIM:270960
HP:0012823	Clinical modifier	80331	DNAJC5	OMIM:162350
HP:0012823	Clinical modifier	3991	LIPE	OMIM:615980
HP:0012823	Clinical modifier	64788	LMF1	OMIM:246650
HP:0012823	Clinical modifier	2581	GALC	OMIM:245200
HP:0012823	Clinical modifier	1376	CPT2	OMIM:255110
HP:0012823	Clinical modifier	93426	SYCE1	OMIM:616950
HP:0012823	Clinical modifier	3371	TNC	OMIM:615629
HP:0012823	Clinical modifier	25923	ATL3	OMIM:615632
HP:0012823	Clinical modifier	55187	VPS13D	OMIM:607317
HP:0012823	Clinical modifier	83552	MFRP	OMIM:611040
HP:0012823	Clinical modifier	56155	TEX14	OMIM:617707
HP:0012823	Clinical modifier	1497	CTNS	OMIM:219750
HP:0012823	Clinical modifier	128338	DRAM2	OMIM:616502
HP:0012823	Clinical modifier	7784	ZP3	OMIM:617712
HP:0012823	Clinical modifier	7128	TNFAIP3	OMIM:616744
HP:0012823	Clinical modifier	10560	SLC19A2	OMIM:249270
HP:0012823	Clinical modifier	22917	ZP1	OMIM:615774
HP:0012823	Clinical modifier	57165	GJC2	OMIM:613480
HP:0012823	Clinical modifier	80705	TSGA10	OMIM:617961
HP:0012823	Clinical modifier	56154	TEX15	OMIM:617960
HP:0012823	Clinical modifier	122481	AK7	OMIM:617965
HP:0012823	Clinical modifier	7289	TULP3	OMIM:619902
HP:0012823	Clinical modifier	88	ACTN2	OMIM:612158
HP:0012823	Clinical modifier	6444	SGCD	OMIM:606685
HP:0012823	Clinical modifier	10568	SLC34A2	OMIM:265100
HP:0012823	Clinical modifier	10755	GIPC1	OMIM:618940
HP:0012823	Clinical modifier	5618	PRLR	OMIM:615555
HP:0012823	Clinical modifier	8988	HSPB3	OMIM:613376
HP:0012823	Clinical modifier	640	BLK	OMIM:613375
HP:0012823	Clinical modifier	2548	GAA	OMIM:232300
HP:0012823	Clinical modifier	26576	SRPK3	OMIM:301134
HP:0012823	Clinical modifier	1056	CEL	OMIM:609812
HP:0012823	Clinical modifier	84660	CCDC62	OMIM:619803
HP:0012823	Clinical modifier	197135	PATL2	OMIM:617743
HP:0012823	Clinical modifier	151254	C2CD6	OMIM:619805
HP:0012823	Clinical modifier	83844	USP26	OMIM:301101
HP:0012823	Clinical modifier	24	ABCA4	OMIM:604116
HP:0012823	Clinical modifier	54967	CT55	OMIM:301106
HP:0012823	Clinical modifier	494551	WEE2	OMIM:617996
HP:0012823	Clinical modifier	4439	MSH5	OMIM:619937
HP:0012823	Clinical modifier	846	CASR	OMIM:601198
HP:0012823	Clinical modifier	116369	SLC26A8	OMIM:606766
HP:0012823	Clinical modifier	1538	CYLC1	OMIM:301119
HP:0012823	Clinical modifier	4340	MOG	OMIM:614250
HP:0012823	Clinical modifier	26249	KLHL3	OMIM:614495
HP:0012823	Clinical modifier	7305	TYROBP	OMIM:221770
HP:0012823	Clinical modifier	22978	NT5C2	OMIM:613162
HP:0012823	Clinical modifier	10654	PMVK	OMIM:175800
HP:0012823	Clinical modifier	199720	GGN	OMIM:619826
HP:0012823	Clinical modifier	8625	RFXANK	OMIM:620815
HP:0012823	Clinical modifier	676	BRDT	OMIM:617644
HP:0012823	Clinical modifier	158401	SHOC1	OMIM:619949
HP:0012823	Clinical modifier	5161	PDHA2	OMIM:619828
HP:0012823	Clinical modifier	23308	ICOSLG	OMIM:620825
HP:0012823	Clinical modifier	5184	PEPD	OMIM:170100
HP:0012823	Clinical modifier	56259	CTNNBL1	OMIM:619846
HP:0012823	Clinical modifier	84146	ZNF644	OMIM:614167
HP:0012823	Clinical modifier	3665	IRF7	OMIM:616345
HP:0012823	Clinical modifier	51109	RDH11	OMIM:616108
HP:0012823	Clinical modifier	80739	MPIG6B	OMIM:617441
HP:0012823	Clinical modifier	23086	EXPH5	OMIM:615028
HP:0012823	Clinical modifier	1428	CRYM	OMIM:616357
HP:0012823	Clinical modifier	51702	PADI3	OMIM:191480
HP:0012823	Clinical modifier	11081	KERA	OMIM:217300
HP:0012823	Clinical modifier	5146	PDE6C	OMIM:613093
HP:0012823	Clinical modifier	9895	TECPR2	OMIM:615031
HP:0012823	Clinical modifier	3590	IL11RA	OMIM:614188
HP:0012823	Clinical modifier	3026	HABP2	OMIM:188050
HP:0012823	Clinical modifier	4524	MTHFR	OMIM:188050
HP:0012823	Clinical modifier	399	RHOH	OMIM:618307
HP:0012823	Clinical modifier	144811	LACC1	OMIM:618795
HP:0012823	Clinical modifier	3579	CXCR2	OMIM:619407
HP:0012823	Clinical modifier	5966	REL	OMIM:619652
HP:0012823	Clinical modifier	197258	FCSK	OMIM:618324
HP:0012823	Clinical modifier	345193	LRIT3	OMIM:615058
HP:0012823	Clinical modifier	10459	MAD2L2	OMIM:617243
HP:0012823	Clinical modifier	835	CASP2	OMIM:620653
HP:0012823	Clinical modifier	212	ALAS2	OMIM:300751
HP:0012823	Clinical modifier	212	ALAS2	OMIM:300752
HP:0012823	Clinical modifier	6448	SGSH	OMIM:252900
HP:0012823	Clinical modifier	7062	TCHH	OMIM:617252
HP:0012823	Clinical modifier	9842	PLEKHM1	OMIM:618107
HP:0012823	Clinical modifier	10397	NDRG1	OMIM:601455
HP:0012823	Clinical modifier	55182	RNF220	OMIM:619688
HP:0012823	Clinical modifier	8492	PRSS12	OMIM:249500
HP:0012823	Clinical modifier	54014	BRWD1	OMIM:620438
HP:0012823	Clinical modifier	4068	SH2D1A	OMIM:308240
HP:0012823	Clinical modifier	331	XIAP	OMIM:308240
HP:0012823	Clinical modifier	153642	ARSK	OMIM:619698
HP:0012823	Clinical modifier	64856	VWA1	OMIM:619216
HP:0012823	Clinical modifier	6775	STAT4	OMIM:620443
HP:0012823	Clinical modifier	65260	COA7	OMIM:618387
HP:0012823	Clinical modifier	2155	F7	OMIM:227500
HP:0012823	Clinical modifier	4070	TACSTD2	OMIM:204870
HP:0012823	Clinical modifier	2690	GHR	OMIM:262500
HP:0012823	Clinical modifier	643418	LIPN	OMIM:613943
HP:0012823	Clinical modifier	4773	NFATC2	OMIM:620232
HP:0012823	Clinical modifier	6010	RHO	OMIM:610445
HP:0012823	Clinical modifier	6010	RHO	OMIM:613731
HP:0012823	Clinical modifier	60506	NYX	OMIM:310500
HP:0012823	Clinical modifier	7171	TPM4	OMIM:620486
HP:0012823	Clinical modifier	54936	ADPRS	OMIM:618170
HP:0012823	Clinical modifier	284361	EMC10	OMIM:619264
HP:0012823	Clinical modifier	4689	NCF4	OMIM:613960
HP:0012823	Clinical modifier	7424	VEGFC	OMIM:615907
HP:0012823	Clinical modifier	79083	MLPH	OMIM:609227
HP:0012823	Clinical modifier	10461	MERTK	OMIM:613862
HP:0012823	Clinical modifier	645104	CLRN2	OMIM:619174
HP:0012823	Clinical modifier	2483	FRG1	OMIM:158900
HP:0012823	Clinical modifier	3952	LEP	OMIM:614962
HP:0012823	Clinical modifier	1678	TIMM8A	OMIM:304700
HP:0012823	Clinical modifier	80856	LNPK	OMIM:618090
HP:0012823	Clinical modifier	7374	UNG	OMIM:608106
HP:0012823	Clinical modifier	633	BGN	OMIM:300106
HP:0012823	Clinical modifier	3425	IDUA	OMIM:607015
HP:0012823	Clinical modifier	643226	GRXCR2	OMIM:615837
HP:0012823	Clinical modifier	8379	MAD1L1	OMIM:620189
HP:0012823	Clinical modifier	85452	CFAP74	OMIM:620197
HP:0012823	Clinical modifier	8242	KDM5C	OMIM:300534
HP:0012823	Clinical modifier	1374	CPT1A	OMIM:255120
HP:0012823	Clinical modifier	4942	OAT	OMIM:258870
HP:0012823	Clinical modifier	2245	FGD1	OMIM:305400
HP:0012823	Clinical modifier	80184	CEP290	OMIM:610189
HP:0012823	Clinical modifier	406960	MIR184	OMIM:614303
HP:0012823	Clinical modifier	4487	MSX1	OMIM:106600
HP:0012823	Clinical modifier	546	ATRX	OMIM:301040
HP:0012823	Clinical modifier	57379	AICDA	OMIM:605258
HP:0012823	Clinical modifier	84816	RTN4IP1	OMIM:616732
HP:0012823	Clinical modifier	123041	SLC24A4	OMIM:615887
HP:0012823	Clinical modifier	10235	RASGRP2	OMIM:615888
HP:0012823	Clinical modifier	90161	HS6ST2	OMIM:301025
HP:0012823	Clinical modifier	6638	SNRPN	OMIM:209850
HP:0012823	Clinical modifier	931	MS4A1	OMIM:613495
HP:0012823	Clinical modifier	131669	UROC1	OMIM:276880
HP:0012823	Clinical modifier	3514	IGKC	OMIM:614102
HP:0012823	Clinical modifier	23204	ARL6IP1	OMIM:615685
HP:0012823	Clinical modifier	50615	IL21R	OMIM:615207
HP:0012823	Clinical modifier	9371	KIF3B	OMIM:618955
HP:0012823	Clinical modifier	7991	TUSC3	OMIM:611093
HP:0012823	Clinical modifier	112752	IFT43	OMIM:617871
HP:0012823	Clinical modifier	2182	ACSL4	OMIM:300387
HP:0012823	Clinical modifier	83452	RAB33B	OMIM:615222
HP:0012823	Clinical modifier	22948	CCT5	OMIM:256840
HP:0012823	Clinical modifier	6891	TAP2	OMIM:620813
HP:0012823	Clinical modifier	8029	CUBN	OMIM:261100
HP:0012823	Clinical modifier	60684	TRAPPC11	OMIM:615356
HP:0012823	Clinical modifier	7552	ZNF711	OMIM:300803
HP:0012823	Clinical modifier	8842	PROM1	OMIM:612095
HP:0012823	Clinical modifier	375790	AGRN	OMIM:615120
HP:0012823	Clinical modifier	25959	KANK2	OMIM:617783
HP:0012823	Clinical modifier	81575	APOLD1	OMIM:620715
HP:0012823	Clinical modifier	472	ATM	OMIM:208900
HP:0012823	Clinical modifier	81693	AMN	OMIM:618882
HP:0012823	Clinical modifier	80153	EDC3	OMIM:616460
HP:0012823	Clinical modifier	1298	COL9A2	OMIM:614284
HP:0012823	Clinical modifier	1298	COL9A2	OMIM:600204
HP:0012823	Clinical modifier	27151	CPAMD8	OMIM:617319
HP:0012823	Clinical modifier	861	RUNX1	OMIM:601399
HP:0012823	Clinical modifier	55214	P3H2	OMIM:614292
HP:0012823	Clinical modifier	5950	RBP4	OMIM:615147
HP:0012823	Clinical modifier	339983	NAT8L	OMIM:614063
HP:0012823	Clinical modifier	391356	PTRHD1	OMIM:620747
HP:0012823	Clinical modifier	84062	DTNBP1	OMIM:614076
HP:0012823	Clinical modifier	5335	PLCG1	OMIM:620514
HP:0012823	Clinical modifier	2742	GLRA2	OMIM:301076
HP:0012823	Clinical modifier	84695	LOXL3	OMIM:619781
HP:0012823	Clinical modifier	1337	COX6A1	OMIM:616039
HP:0012823	Clinical modifier	29127	RACGAP1	OMIM:619789
HP:0012823	Clinical modifier	23111	SPART	OMIM:275900
HP:0012823	Clinical modifier	2235	FECH	OMIM:177000
HP:0012823	Clinical modifier	53405	CLIC5	OMIM:616042
HP:0012823	Clinical modifier	9785	DHX38	OMIM:618220
HP:0012823	Clinical modifier	2048	EPHB2	OMIM:618462
HP:0012823	Clinical modifier	203547	VMA21	OMIM:310440
HP:0012823	Clinical modifier	23102	TBC1D2B	OMIM:619323
HP:0012823	Clinical modifier	729920	CRPPA	OMIM:616052
HP:0012823	Clinical modifier	362	AQP5	OMIM:600231
HP:0012823	Clinical modifier	80224	NUBPL	OMIM:618242
HP:0012823	Clinical modifier	713	C1QB	OMIM:620321
HP:0012823	Clinical modifier	444	ASPH	OMIM:601552
HP:0012823	Clinical modifier	55814	BDP1	OMIM:618257
HP:0012823	Clinical modifier	5283	PIGH	OMIM:618010
HP:0012823	Clinical modifier	390594	KBTBD13	OMIM:609273
HP:0012823	Clinical modifier	1200	TPP1	OMIM:609270
HP:0012823	Clinical modifier	5158	PDE6B	OMIM:613801
HP:0012823	Clinical modifier	145226	RDH12	OMIM:612712
HP:0012823	Clinical modifier	28982	FLVCR1	OMIM:609033
HP:0012823	Clinical modifier	1300	COL10A1	OMIM:156500
HP:0012823	Clinical modifier	388531	RGS9BP	OMIM:620344
HP:0012823	Clinical modifier	2312	FLG	OMIM:146700
HP:0012823	Clinical modifier	2916	GRM6	OMIM:257270
HP:0012823	Clinical modifier	8701	DNAH11	OMIM:611884
HP:0012823	Clinical modifier	9187	SLC24A1	OMIM:613830
HP:0012823	Clinical modifier	7388	UQCRH	OMIM:620137
HP:0012823	Clinical modifier	6584	SLC22A5	OMIM:212140
HP:0012823	Clinical modifier	7109	TRAPPC10	OMIM:620027
HP:0012823	Clinical modifier	3291	HSD11B2	OMIM:218030
HP:0012823	Clinical modifier	49855	SCAPER	OMIM:618195
HP:0012823	Clinical modifier	221421	RSPH9	OMIM:612650
HP:0012823	Clinical modifier	51324	SPG21	OMIM:248900
HP:0012823	Clinical modifier	1137	CHRNA4	OMIM:600513
HP:0012823	Clinical modifier	340024	SLC6A19	OMIM:234500
HP:0012823	Clinical modifier	7187	TRAF3	OMIM:614849
HP:0012823	Clinical modifier	84334	COA8	OMIM:619061
HP:0012823	Clinical modifier	148022	TICAM1	OMIM:614850
HP:0012823	Clinical modifier	338328	GPIHBP1	OMIM:615947
HP:0012823	Clinical modifier	121512	FGD4	OMIM:609311
HP:0012823	Clinical modifier	1576	CYP3A4	OMIM:619073
HP:0012823	Clinical modifier	1267	CNP	OMIM:619071
HP:0012823	Clinical modifier	83394	PITPNM3	OMIM:600977
HP:0012823	Clinical modifier	57709	SLC7A14	OMIM:615725
HP:0012823	Clinical modifier	54862	CC2D1A	OMIM:608443
HP:0012823	Clinical modifier	9180	OSMR	OMIM:105250
HP:0012823	Clinical modifier	11152	WDR45	OMIM:300894
HP:0012823	Clinical modifier	11117	EMILIN1	OMIM:620080
HP:0012823	Clinical modifier	5122	PCSK1	OMIM:600955
HP:0012823	Clinical modifier	5194	PEX13	OMIM:614885
HP:0012823	Clinical modifier	54413	NLGN3	OMIM:300425
HP:0012823	Clinical modifier	23590	PDSS1	OMIM:614651
HP:0012823	Clinical modifier	6307	MSMO1	OMIM:616834
HP:0012823	Clinical modifier	1261	CNGA3	OMIM:216900
HP:0012823	Clinical modifier	54808	DYM	OMIM:607326
HP:0012823	Clinical modifier	54808	DYM	OMIM:223800
HP:0012823	Clinical modifier	147495	APCDD1	OMIM:605389
HP:0012823	Clinical modifier	8787	RGS9	OMIM:608415
HP:0012823	Clinical modifier	5148	PDE6G	OMIM:613582
HP:0012823	Clinical modifier	4297	KMT2A	OMIM:605130
HP:0012823	Clinical modifier	8671	SLC4A4	OMIM:604278
HP:0012823	Clinical modifier	175	AGA	OMIM:208400
HP:0012823	Clinical modifier	93986	FOXP2	OMIM:602081
HP:0012823	Clinical modifier	51002	TPRKB	OMIM:617731
HP:0012823	Clinical modifier	255928	SYT14	OMIM:614229
HP:0012823	Clinical modifier	128178	EDARADD	OMIM:224900
HP:0012823	Clinical modifier	10913	EDAR	OMIM:224900
HP:0012823	Clinical modifier	629	CFB	OMIM:615561
HP:0012823	Clinical modifier	1314	COPA	OMIM:616414
HP:0012823	Clinical modifier	6569	SLC34A1	OMIM:613388
HP:0012823	Clinical modifier	57502	NLGN4X	OMIM:300495
HP:0012823	Clinical modifier	4791	NFKB2	OMIM:615577
HP:0012823	Clinical modifier	8815	BANF1	OMIM:614008
HP:0012823	Clinical modifier	7508	XPC	OMIM:278720
HP:0012823	Clinical modifier	1478	CSTF2	OMIM:301116
HP:0012823	Clinical modifier	10369	CACNG2	OMIM:614256
HP:0012823	Clinical modifier	5265	SERPINA1	OMIM:613490
HP:0012823	Clinical modifier	2100	ESR2	OMIM:618187
HP:0012823	Clinical modifier	3972	LHB	OMIM:228300
HP:0012823	Clinical modifier	3630	INS	OMIM:125852
HP:0012823	Clinical modifier	10371	SEMA3A	OMIM:614897
HP:0012823	Clinical modifier	6640	SNTA1	OMIM:612955
HP:0012823	Clinical modifier	2624	GATA2	OMIM:614172
HP:0012823	Clinical modifier	116085	SLC22A12	OMIM:220150
HP:0012823	Clinical modifier	1593	CYP27A1	OMIM:213700
HP:0012823	Clinical modifier	5961	PRPH2	OMIM:608161
HP:0012823	Clinical modifier	4921	DDR2	OMIM:271665
HP:0012823	Clinical modifier	65992	DDRGK1	OMIM:602557
HP:0012823	Clinical modifier	3376	IARS1	OMIM:617093
HP:0012823	Clinical modifier	100128927	ZBTB42	OMIM:616248
HP:0012823	Clinical modifier	1317	SLC31A1	OMIM:620306
HP:0012823	Clinical modifier	55329	MNS1	OMIM:618948
HP:0012823	Clinical modifier	347734	SLC35B2	OMIM:620269
HP:0012823	Clinical modifier	148867	SLC30A7	OMIM:620501
HP:0012823	Clinical modifier	8854	ALDH1A2	OMIM:620025
HP:0012823	Clinical modifier	5745	PTH1R	OMIM:215045
HP:0012823	Clinical modifier	80114	BICC1	OMIM:601331
HP:0012823	Clinical modifier	9871	SEC24D	OMIM:616294
HP:0012823	Clinical modifier	219854	TMEM218	OMIM:619562
HP:0012823	Clinical modifier	26281	FGF20	OMIM:615721
HP:0012823	Clinical modifier	51163	DBR1	OMIM:620510
HP:0012823	Clinical modifier	6263	RYR3	OMIM:620310
HP:0012823	Clinical modifier	1759	DNM1	OMIM:620352
HP:0012823	Clinical modifier	4718	NDUFC2	OMIM:619170
HP:0012823	Clinical modifier	3190	HNRNPK	OMIM:616580
HP:0012823	Clinical modifier	4709	NDUFB3	OMIM:618246
HP:0012823	Clinical modifier	10491	CRTAP	OMIM:610682
HP:0012823	Clinical modifier	6550	SLC9A3	OMIM:616868
HP:0012823	Clinical modifier	51294	PCDH12	OMIM:251280
HP:0012823	Clinical modifier	55901	THSD1	OMIM:620244
HP:0012823	Clinical modifier	54361	WNT4	OMIM:611812
HP:0012823	Clinical modifier	701	BUB1B	OMIM:257300
HP:0012823	Clinical modifier	222663	SCUBE3	OMIM:619184
HP:0012823	Clinical modifier	51626	DYNC2LI1	OMIM:617088
HP:0012823	Clinical modifier	7156	TOP3A	OMIM:618097
HP:0012823	Clinical modifier	56603	CYP26B1	OMIM:614416
HP:0012823	Clinical modifier	2752	GLUL	OMIM:610015
HP:0012823	Clinical modifier	5297	PI4KA	OMIM:619708
HP:0012823	Clinical modifier	593	BCKDHA	OMIM:248600
HP:0012823	Clinical modifier	2022	ENG	OMIM:187300
HP:0012823	Clinical modifier	135	ADORA2A	ORPHA:363549
HP:0012823	Clinical modifier	6154	RPL26	OMIM:614900
HP:0012823	Clinical modifier	57211	ADGRG6	OMIM:616503
HP:0012823	Clinical modifier	6616	SNAP25	OMIM:616330
HP:0012823	Clinical modifier	9837	GINS1	OMIM:617827
HP:0012823	Clinical modifier	11041	B4GAT1	OMIM:615287
HP:0012823	Clinical modifier	2271	FH	OMIM:606812
HP:0012823	Clinical modifier	83871	RAB34	OMIM:620718
HP:0012823	Clinical modifier	3897	L1CAM	OMIM:304100
HP:0012823	Clinical modifier	4713	NDUFB7	OMIM:620135
HP:0012823	Clinical modifier	168667	BMPER	OMIM:608022
HP:0012823	Clinical modifier	27183	VPS4A	OMIM:619273
HP:0012823	Clinical modifier	1471	CST3	ORPHA:100008
HP:0012823	Clinical modifier	6804	STX1A	ORPHA:904
HP:0012823	Clinical modifier	7461	CLIP2	ORPHA:904
HP:0012823	Clinical modifier	5982	RFC2	ORPHA:904
HP:0012823	Clinical modifier	2969	GTF2I	ORPHA:904
HP:0012823	Clinical modifier	3984	LIMK1	ORPHA:904
HP:0012823	Clinical modifier	9569	GTF2IRD1	ORPHA:904
HP:0012823	Clinical modifier	155382	VPS37D	ORPHA:904
HP:0012823	Clinical modifier	155368	METTL27	ORPHA:904
HP:0012823	Clinical modifier	114049	BUD23	ORPHA:904
HP:0012823	Clinical modifier	7458	EIF4H	ORPHA:904
HP:0012823	Clinical modifier	84163	GTF2IRD2	ORPHA:904
HP:0012823	Clinical modifier	26608	TBL2	ORPHA:904
HP:0012823	Clinical modifier	135886	TMEM270	ORPHA:904
HP:0012823	Clinical modifier	9031	BAZ1B	ORPHA:904
HP:0012823	Clinical modifier	79639	TMEM53	OMIM:619727
HP:0012823	Clinical modifier	83959	SLC4A11	OMIM:217400
HP:0012821	Unilateral vocal cord paresis	23498	HAAO	OMIM:617660
HP:0025391	Crazy paving pattern	1439	CSF2RB	ORPHA:264675
HP:0025391	Crazy paving pattern	1438	CSF2RA	ORPHA:264675
HP:0025391	Crazy paving pattern	3123	HLA-DRB1	ORPHA:747
HP:0025391	Crazy paving pattern	21	ABCA3	OMIM:610921
HP:0000953	Hyperpigmentation of the skin	128	ADH5	OMIM:619151
HP:0000953	Hyperpigmentation of the skin	8036	SHOC2	OMIM:607721
HP:0000953	Hyperpigmentation of the skin	8216	LZTR1	OMIM:616564
HP:0000953	Hyperpigmentation of the skin	8216	LZTR1	OMIM:605275
HP:0000953	Hyperpigmentation of the skin	3852	KRT5	ORPHA:158681
HP:0000953	Hyperpigmentation of the skin	3852	KRT5	ORPHA:79396
HP:0000953	Hyperpigmentation of the skin	6016	RIT1	OMIM:615355
HP:0000953	Hyperpigmentation of the skin	673	BRAF	OMIM:115150
HP:0000953	Hyperpigmentation of the skin	673	BRAF	ORPHA:96253
HP:0000953	Hyperpigmentation of the skin	118429	ANTXR2	ORPHA:2176
HP:0000953	Hyperpigmentation of the skin	324	APC	OMIM:175100
HP:0000953	Hyperpigmentation of the skin	1736	DKC1	OMIM:305000
HP:0000953	Hyperpigmentation of the skin	148738	HJV	OMIM:602390
HP:0000953	Hyperpigmentation of the skin	4173	MCM4	OMIM:609981
HP:0000953	Hyperpigmentation of the skin	64324	NSD1	ORPHA:821
HP:0000953	Hyperpigmentation of the skin	10297	APC2	ORPHA:821
HP:0000953	Hyperpigmentation of the skin	10999	SLC27A4	OMIM:608649
HP:0000953	Hyperpigmentation of the skin	55315	SLC29A3	OMIM:602782
HP:0000953	Hyperpigmentation of the skin	55315	SLC29A3	ORPHA:168569
HP:0000953	Hyperpigmentation of the skin	1584	CYP11B1	OMIM:202010
HP:0000953	Hyperpigmentation of the skin	1584	CYP11B1	ORPHA:90795
HP:0000953	Hyperpigmentation of the skin	1583	CYP11A1	OMIM:613743
HP:0000953	Hyperpigmentation of the skin	10587	TXNRD2	OMIM:617825
HP:0000953	Hyperpigmentation of the skin	56246	MRAP	OMIM:607398
HP:0000953	Hyperpigmentation of the skin	3284	HSD3B2	ORPHA:90791
HP:0000953	Hyperpigmentation of the skin	4000	LMNA	ORPHA:90153
HP:0000953	Hyperpigmentation of the skin	30061	SLC40A1	OMIM:606069
HP:0000953	Hyperpigmentation of the skin	10269	ZMPSTE24	ORPHA:90154
HP:0000953	Hyperpigmentation of the skin	2188	FANCF	OMIM:603467
HP:0000953	Hyperpigmentation of the skin	8626	TP63	OMIM:106260
HP:0000953	Hyperpigmentation of the skin	84196	USP48	ORPHA:96253
HP:0000953	Hyperpigmentation of the skin	7157	TP53	ORPHA:96253
HP:0000953	Hyperpigmentation of the skin	9101	USP8	ORPHA:96253
HP:0000953	Hyperpigmentation of the skin	64072	CDH23	ORPHA:96253
HP:0000953	Hyperpigmentation of the skin	2908	NR3C1	ORPHA:96253
HP:0000953	Hyperpigmentation of the skin	546	ATRX	ORPHA:96253
HP:0000953	Hyperpigmentation of the skin	3861	KRT14	ORPHA:89838
HP:0000953	Hyperpigmentation of the skin	3861	KRT14	ORPHA:79396
HP:0000953	Hyperpigmentation of the skin	10484	SEC23A	ORPHA:50814
HP:0000953	Hyperpigmentation of the skin	165	AEBP1	OMIM:618000
HP:0000953	Hyperpigmentation of the skin	10804	GJB6	OMIM:129500
HP:0000953	Hyperpigmentation of the skin	10804	GJB6	ORPHA:189
HP:0000953	Hyperpigmentation of the skin	7389	UROD	ORPHA:95159
HP:0000953	Hyperpigmentation of the skin	54539	NDUFB11	ORPHA:2556
HP:0000953	Hyperpigmentation of the skin	1349	COX7B	ORPHA:2556
HP:0000953	Hyperpigmentation of the skin	3052	HCCS	ORPHA:2556
HP:0000953	Hyperpigmentation of the skin	212	ALAS2	ORPHA:75563
HP:0000953	Hyperpigmentation of the skin	215	ABCD1	OMIM:300100
HP:0000953	Hyperpigmentation of the skin	8091	HMGA2	ORPHA:94063
HP:0000953	Hyperpigmentation of the skin	23592	LEMD3	ORPHA:94063
HP:0000953	Hyperpigmentation of the skin	2178	FANCE	OMIM:600901
HP:0000953	Hyperpigmentation of the skin	2778	GNAS	OMIM:617686
HP:0000953	Hyperpigmentation of the skin	1371	CPOX	OMIM:618892
HP:0000953	Hyperpigmentation of the skin	190	NR0B1	ORPHA:95702
HP:0000953	Hyperpigmentation of the skin	190	NR0B1	OMIM:300200
HP:0000953	Hyperpigmentation of the skin	6638	SNRPN	ORPHA:177907
HP:0000953	Hyperpigmentation of the skin	5498	PPOX	ORPHA:79473
HP:0000953	Hyperpigmentation of the skin	3265	HRAS	OMIM:218040
HP:0000953	Hyperpigmentation of the skin	56244	BTNL2	ORPHA:797
HP:0000953	Hyperpigmentation of the skin	3123	HLA-DRB1	ORPHA:797
HP:0000953	Hyperpigmentation of the skin	650	BMP2	OMIM:235200
HP:0000953	Hyperpigmentation of the skin	3077	HFE	OMIM:235200
HP:0000953	Hyperpigmentation of the skin	3077	HFE	ORPHA:465508
HP:0000953	Hyperpigmentation of the skin	55131	RBM28	ORPHA:157954
HP:0000953	Hyperpigmentation of the skin	4158	MC2R	OMIM:202200
HP:0000953	Hyperpigmentation of the skin	3043	HBB	ORPHA:231214
HP:0000953	Hyperpigmentation of the skin	3043	HBB	ORPHA:231226
HP:0000953	Hyperpigmentation of the skin	8879	SGPL1	OMIM:617575
HP:0000953	Hyperpigmentation of the skin	55505	NOP10	OMIM:224230
HP:0000953	Hyperpigmentation of the skin	55651	NHP2	OMIM:224230
HP:0000953	Hyperpigmentation of the skin	9401	RECQL4	ORPHA:221016
HP:0000953	Hyperpigmentation of the skin	5293	PIK3CD	ORPHA:221139
HP:0000953	Hyperpigmentation of the skin	90417	KNSTRN	ORPHA:221139
HP:0000953	Hyperpigmentation of the skin	80025	PANK2	OMIM:234200
HP:0000953	Hyperpigmentation of the skin	7036	TFR2	OMIM:604250
HP:0000953	Hyperpigmentation of the skin	2697	GJA1	OMIM:104100
HP:0000953	Hyperpigmentation of the skin	3594	IL12RB1	ORPHA:186
HP:0000953	Hyperpigmentation of the skin	23534	TNPO3	ORPHA:186
HP:0000953	Hyperpigmentation of the skin	3592	IL12A	ORPHA:186
HP:0000953	Hyperpigmentation of the skin	6689	SPIB	ORPHA:186
HP:0000953	Hyperpigmentation of the skin	5450	POU2AF1	ORPHA:186
HP:0000953	Hyperpigmentation of the skin	9966	TNFSF15	ORPHA:186
HP:0000953	Hyperpigmentation of the skin	79258	MMEL1	ORPHA:186
HP:0000953	Hyperpigmentation of the skin	3663	IRF5	ORPHA:186
HP:0000953	Hyperpigmentation of the skin	2629	GBA1	OMIM:230800
HP:0000953	Hyperpigmentation of the skin	79728	PALB2	OMIM:610832
HP:0000953	Hyperpigmentation of the skin	3718	JAK3	ORPHA:35078
HP:0000953	Hyperpigmentation of the skin	3815	KIT	ORPHA:79455
HP:0000953	Hyperpigmentation of the skin	3815	KIT	OMIM:606764
HP:0000953	Hyperpigmentation of the skin	348	APOE	ORPHA:158029
HP:0000953	Hyperpigmentation of the skin	2176	FANCC	OMIM:227645
HP:0000953	Hyperpigmentation of the skin	7390	UROS	OMIM:263700
HP:0000953	Hyperpigmentation of the skin	7390	UROS	ORPHA:79277
HP:0000953	Hyperpigmentation of the skin	654	BMP6	ORPHA:465508
HP:0000953	Hyperpigmentation of the skin	57817	HAMP	OMIM:613313
HP:0000953	Hyperpigmentation of the skin	64127	NOD2	ORPHA:90340
HP:0000953	Hyperpigmentation of the skin	5429	POLH	ORPHA:90342
HP:0000953	Hyperpigmentation of the skin	8086	AAAS	OMIM:231550
HP:0000953	Hyperpigmentation of the skin	9333	TGM5	ORPHA:263534
HP:0000953	Hyperpigmentation of the skin	1475	CSTA	ORPHA:263534
HP:0000953	Hyperpigmentation of the skin	6390	SDHB	OMIM:606764
HP:0000953	Hyperpigmentation of the skin	6391	SDHC	OMIM:606764
HP:0000953	Hyperpigmentation of the skin	3845	KRAS	OMIM:600268
HP:0000953	Hyperpigmentation of the skin	55181	SMG8	OMIM:619268
HP:0000953	Hyperpigmentation of the skin	55367	PIDD1	OMIM:619827
HP:0000953	Hyperpigmentation of the skin	4771	NF2	ORPHA:637
HP:0000953	Hyperpigmentation of the skin	5696	PSMB8	OMIM:256040
HP:0000953	Hyperpigmentation of the skin	2623	GATA1	ORPHA:79277
HP:0000953	Hyperpigmentation of the skin	6232	RPS27	OMIM:617409
HP:0000953	Hyperpigmentation of the skin	64682	ANAPC1	ORPHA:221008
HP:0000953	Hyperpigmentation of the skin	3479	IGF1	ORPHA:73272
HP:0000953	Hyperpigmentation of the skin	8367	H4C5	OMIM:619950
HP:0000953	Hyperpigmentation of the skin	4683	NBN	OMIM:251260
HP:0000953	Hyperpigmentation of the skin	55240	STEAP3	OMIM:615234
HP:0000953	Hyperpigmentation of the skin	55240	STEAP3	ORPHA:300298
HP:0000953	Hyperpigmentation of the skin	55654	TMEM127	OMIM:171300
HP:0000953	Hyperpigmentation of the skin	4149	MAX	OMIM:171300
HP:0000953	Hyperpigmentation of the skin	5979	RET	OMIM:171300
HP:0000953	Hyperpigmentation of the skin	7428	VHL	OMIM:171300
HP:0000953	Hyperpigmentation of the skin	161742	SPRED1	OMIM:611431
HP:0000953	Hyperpigmentation of the skin	5894	RAF1	OMIM:611554
HP:0000953	Hyperpigmentation of the skin	5894	RAF1	OMIM:611553
HP:0000953	Hyperpigmentation of the skin	3659	IRF1	OMIM:620668
HP:0000953	Hyperpigmentation of the skin	4076	CAPRIN1	OMIM:620782
HP:0000953	Hyperpigmentation of the skin	10060	ABCC9	OMIM:619719
HP:0000953	Hyperpigmentation of the skin	6548	SLC9A1	OMIM:616291
HP:0000953	Hyperpigmentation of the skin	197131	UBR1	OMIM:243800
HP:0000953	Hyperpigmentation of the skin	220296	HEPACAM	ORPHA:210548
HP:0000953	Hyperpigmentation of the skin	472	ATM	OMIM:208900
HP:0000953	Hyperpigmentation of the skin	284058	KANSL1	ORPHA:363958
HP:0000953	Hyperpigmentation of the skin	284058	KANSL1	ORPHA:363965
HP:0000953	Hyperpigmentation of the skin	54543	TOMM7	OMIM:620601
HP:0000953	Hyperpigmentation of the skin	3481	IGF2	OMIM:180860
HP:0000953	Hyperpigmentation of the skin	3481	IGF2	ORPHA:397590
HP:0000953	Hyperpigmentation of the skin	7156	TOP3A	OMIM:618097
HP:0000953	Hyperpigmentation of the skin	2475	MTOR	ORPHA:457485
HP:0000953	Hyperpigmentation of the skin	2475	MTOR	OMIM:616638
HP:0000953	Hyperpigmentation of the skin	6663	SOX10	OMIM:611584
HP:0000953	Hyperpigmentation of the skin	51729	WBP11	OMIM:619227
HP:0000953	Hyperpigmentation of the skin	6874	TAF4	OMIM:620450
HP:0000953	Hyperpigmentation of the skin	699	BUB1	OMIM:620183
HP:0000953	Hyperpigmentation of the skin	1186	CLCN7	OMIM:618541
HP:0000953	Hyperpigmentation of the skin	57680	CHD8	OMIM:615032
HP:0000953	Hyperpigmentation of the skin	2033	EP300	OMIM:180849
HP:0000953	Hyperpigmentation of the skin	1387	CREBBP	OMIM:180849
HP:0000953	Hyperpigmentation of the skin	3458	IFNG	OMIM:613254
HP:0000953	Hyperpigmentation of the skin	7249	TSC2	OMIM:613254
HP:0000953	Hyperpigmentation of the skin	10283	CWC27	OMIM:250410
HP:0000953	Hyperpigmentation of the skin	10283	CWC27	ORPHA:166035
HP:0000953	Hyperpigmentation of the skin	8936	WASF1	OMIM:618707
HP:0000953	Hyperpigmentation of the skin	285590	SH3PXD2B	OMIM:249420
HP:0000953	Hyperpigmentation of the skin	5594	MAPK1	OMIM:619087
HP:0000953	Hyperpigmentation of the skin	9702	CEP57	OMIM:614114
HP:0000953	Hyperpigmentation of the skin	1028	CDKN1C	ORPHA:397590
HP:0000953	Hyperpigmentation of the skin	5324	PLAG1	ORPHA:397590
HP:0000953	Hyperpigmentation of the skin	641	BLM	OMIM:210900
HP:0000953	Hyperpigmentation of the skin	641	BLM	ORPHA:125
HP:0000953	Hyperpigmentation of the skin	5500	PPP1CB	OMIM:617506
HP:0000953	Hyperpigmentation of the skin	7248	TSC1	OMIM:191100
HP:0000953	Hyperpigmentation of the skin	9968	MED12	OMIM:300895
HP:0000953	Hyperpigmentation of the skin	4221	MEN1	OMIM:131100
HP:0000953	Hyperpigmentation of the skin	9652	SKIC3	OMIM:222470
HP:0000953	Hyperpigmentation of the skin	9652	SKIC3	ORPHA:84064
HP:0000953	Hyperpigmentation of the skin	55023	PHIP	OMIM:617991
HP:0000953	Hyperpigmentation of the skin	55023	PHIP	ORPHA:589905
HP:0000953	Hyperpigmentation of the skin	1315	COPB1	OMIM:619255
HP:0000953	Hyperpigmentation of the skin	157570	ESCO2	OMIM:268300
HP:0000953	Hyperpigmentation of the skin	6595	SMARCA2	OMIM:601358
HP:0000953	Hyperpigmentation of the skin	5781	PTPN11	OMIM:151100
HP:0000953	Hyperpigmentation of the skin	5781	PTPN11	OMIM:163950
HP:0000953	Hyperpigmentation of the skin	867	CBL	OMIM:613563
HP:0000953	Hyperpigmentation of the skin	6499	SKIC2	ORPHA:84064
HP:0000953	Hyperpigmentation of the skin	22907	DHX30	OMIM:617804
HP:0000953	Hyperpigmentation of the skin	5426	POLE	OMIM:618336
HP:0000953	Hyperpigmentation of the skin	9898	UBAP2L	OMIM:620494
HP:0000953	Hyperpigmentation of the skin	8085	KMT2D	OMIM:147920
HP:0000953	Hyperpigmentation of the skin	7403	KDM6A	OMIM:147920
HP:0000953	Hyperpigmentation of the skin	23141	ANKLE2	OMIM:616681
HP:0000953	Hyperpigmentation of the skin	112858	TP53RK	OMIM:617730
HP:0000953	Hyperpigmentation of the skin	23135	KDM6B	OMIM:618505
HP:0000953	Hyperpigmentation of the skin	5290	PIK3CA	ORPHA:60040
HP:0000953	Hyperpigmentation of the skin	60	ACTB	ORPHA:64755
HP:0000953	Hyperpigmentation of the skin	2186	BPTF	OMIM:148000
HP:0000953	Hyperpigmentation of the skin	3569	IL6	OMIM:148000
HP:0000953	Hyperpigmentation of the skin	2261	FGFR3	ORPHA:53271
HP:0000953	Hyperpigmentation of the skin	56916	SMARCAD1	OMIM:129200
HP:0000953	Hyperpigmentation of the skin	7507	XPA	OMIM:278700
HP:0000953	Hyperpigmentation of the skin	7507	XPA	ORPHA:910
HP:0000953	Hyperpigmentation of the skin	1161	ERCC8	ORPHA:90321
HP:0000953	Hyperpigmentation of the skin	1161	ERCC8	ORPHA:90322
HP:0000953	Hyperpigmentation of the skin	2074	ERCC6	ORPHA:90321
HP:0000953	Hyperpigmentation of the skin	2074	ERCC6	ORPHA:90322
HP:0000953	Hyperpigmentation of the skin	2074	ERCC6	OMIM:278800
HP:0000953	Hyperpigmentation of the skin	2067	ERCC1	ORPHA:90322
HP:0000953	Hyperpigmentation of the skin	50485	SMARCAL1	ORPHA:1830
HP:0000953	Hyperpigmentation of the skin	50485	SMARCAL1	OMIM:242900
HP:0000953	Hyperpigmentation of the skin	10058	ABCB6	OMIM:615402
HP:0000953	Hyperpigmentation of the skin	10058	ABCB6	ORPHA:241
HP:0000953	Hyperpigmentation of the skin	488	ATP2A2	ORPHA:218
HP:0000953	Hyperpigmentation of the skin	488	ATP2A2	OMIM:124200
HP:0000953	Hyperpigmentation of the skin	7132	TNFRSF1A	ORPHA:32960
HP:0000953	Hyperpigmentation of the skin	1536	CYBB	ORPHA:379
HP:0000953	Hyperpigmentation of the skin	4688	NCF2	ORPHA:379
HP:0000953	Hyperpigmentation of the skin	1535	CYBA	ORPHA:379
HP:0000953	Hyperpigmentation of the skin	4689	NCF4	ORPHA:379
HP:0000953	Hyperpigmentation of the skin	653361	NCF1	ORPHA:379
HP:0000953	Hyperpigmentation of the skin	79415	CYBC1	ORPHA:379
HP:0000953	Hyperpigmentation of the skin	8869	ST3GAL5	OMIM:609056
HP:0000953	Hyperpigmentation of the skin	54	ACP5	OMIM:607944
HP:0000953	Hyperpigmentation of the skin	1663	DDX11	OMIM:613398
HP:0000953	Hyperpigmentation of the skin	6794	STK11	OMIM:175200
HP:0000953	Hyperpigmentation of the skin	5339	PLEC	ORPHA:79401
HP:0000953	Hyperpigmentation of the skin	4313	MMP2	OMIM:259600
HP:0000953	Hyperpigmentation of the skin	23328	SASH1	OMIM:618373
HP:0000953	Hyperpigmentation of the skin	80169	CTC1	ORPHA:1775
HP:0000953	Hyperpigmentation of the skin	79650	USB1	ORPHA:1775
HP:0000953	Hyperpigmentation of the skin	55135	WRAP53	ORPHA:1775
HP:0000953	Hyperpigmentation of the skin	4869	NPM1	ORPHA:1775
HP:0000953	Hyperpigmentation of the skin	7012	TERC	ORPHA:1775
HP:0000953	Hyperpigmentation of the skin	7298	TYMS	ORPHA:1775
HP:0000953	Hyperpigmentation of the skin	4763	NF1	ORPHA:97685
HP:0000953	Hyperpigmentation of the skin	2068	ERCC2	ORPHA:910
HP:0000953	Hyperpigmentation of the skin	2071	ERCC3	ORPHA:910
HP:0000953	Hyperpigmentation of the skin	7508	XPC	ORPHA:910
HP:0000953	Hyperpigmentation of the skin	1643	DDB2	ORPHA:910
HP:0000953	Hyperpigmentation of the skin	2073	ERCC5	ORPHA:910
HP:0000953	Hyperpigmentation of the skin	1130	LYST	ORPHA:167
HP:0000953	Hyperpigmentation of the skin	79644	SRD5A3	ORPHA:324737
HP:0000953	Hyperpigmentation of the skin	8815	BANF1	OMIM:614008
HP:0000953	Hyperpigmentation of the skin	55612	FERMT1	OMIM:173650
HP:0000953	Hyperpigmentation of the skin	9419	CRIPT	OMIM:615789
HP:0000953	Hyperpigmentation of the skin	5573	PRKAR1A	ORPHA:1359
HP:0000953	Hyperpigmentation of the skin	50940	PDE11A	ORPHA:1359
HP:0000953	Hyperpigmentation of the skin	25778	DSTYK	OMIM:270750
HP:0000953	Hyperpigmentation of the skin	1027	CDKN1B	ORPHA:652
HP:0000953	Hyperpigmentation of the skin	1026	CDKN1A	ORPHA:652
HP:0000953	Hyperpigmentation of the skin	1030	CDKN2B	ORPHA:652
HP:0000953	Hyperpigmentation of the skin	1031	CDKN2C	ORPHA:652
HP:0000953	Hyperpigmentation of the skin	57167	SALL4	ORPHA:233
HP:0000953	Hyperpigmentation of the skin	9935	MAFB	ORPHA:233
HP:0000953	Hyperpigmentation of the skin	1123	CHN1	ORPHA:233
HP:0000953	Hyperpigmentation of the skin	1493	CTLA4	ORPHA:3162
HP:0000953	Hyperpigmentation of the skin	1493	CTLA4	ORPHA:2584
HP:0000953	Hyperpigmentation of the skin	940	CD28	ORPHA:3162
HP:0000953	Hyperpigmentation of the skin	940	CD28	ORPHA:2584
HP:0000953	Hyperpigmentation of the skin	7133	TNFRSF1B	ORPHA:3162
HP:0000953	Hyperpigmentation of the skin	7133	TNFRSF1B	ORPHA:2584
HP:0000953	Hyperpigmentation of the skin	4854	NOTCH3	ORPHA:2591
HP:0000953	Hyperpigmentation of the skin	5159	PDGFRB	ORPHA:2591
HP:0000953	Hyperpigmentation of the skin	6389	SDHA	ORPHA:44890
HP:0000953	Hyperpigmentation of the skin	5156	PDGFRA	ORPHA:44890
HP:0000953	Hyperpigmentation of the skin	4893	NRAS	ORPHA:2612
HP:0000953	Hyperpigmentation of the skin	340024	SLC6A19	ORPHA:2116
HP:0000953	Hyperpigmentation of the skin	57393	CLTRN	ORPHA:2116
HP:0000953	Hyperpigmentation of the skin	5728	PTEN	ORPHA:109
HP:0000953	Hyperpigmentation of the skin	5728	PTEN	ORPHA:2969
HP:0000953	Hyperpigmentation of the skin	2767	GNA11	ORPHA:428
HP:0000953	Hyperpigmentation of the skin	846	CASR	ORPHA:428
HP:0000953	Hyperpigmentation of the skin	672	BRCA1	ORPHA:84
HP:0000953	Hyperpigmentation of the skin	10459	MAD2L2	ORPHA:84
HP:0000953	Hyperpigmentation of the skin	7516	XRCC2	ORPHA:84
HP:0000953	Hyperpigmentation of the skin	29089	UBE2T	ORPHA:84
HP:0000953	Hyperpigmentation of the skin	675	BRCA2	ORPHA:84
HP:0000953	Hyperpigmentation of the skin	55120	FANCL	ORPHA:84
HP:0000953	Hyperpigmentation of the skin	2177	FANCD2	ORPHA:84
HP:0000953	Hyperpigmentation of the skin	2175	FANCA	ORPHA:84
HP:0000953	Hyperpigmentation of the skin	2187	FANCB	ORPHA:84
HP:0000953	Hyperpigmentation of the skin	2189	FANCG	ORPHA:84
HP:0000953	Hyperpigmentation of the skin	5888	RAD51	ORPHA:84
HP:0000953	Hyperpigmentation of the skin	5889	RAD51C	ORPHA:84
HP:0000953	Hyperpigmentation of the skin	55159	RFWD3	ORPHA:84
HP:0000953	Hyperpigmentation of the skin	83990	BRIP1	ORPHA:84
HP:0000953	Hyperpigmentation of the skin	57697	FANCM	ORPHA:84
HP:0000953	Hyperpigmentation of the skin	84464	SLX4	ORPHA:84
HP:0000953	Hyperpigmentation of the skin	2072	ERCC4	ORPHA:84
HP:0000953	Hyperpigmentation of the skin	55215	FANCI	ORPHA:84
HP:0000953	Hyperpigmentation of the skin	1776	DNASE1L3	ORPHA:36412
HP:0000953	Hyperpigmentation of the skin	2776	GNAQ	ORPHA:624
HP:0000953	Hyperpigmentation of the skin	55719	SLF2	OMIM:620184
HP:0000953	Hyperpigmentation of the skin	79092	CARD14	ORPHA:2897
HP:0000953	Hyperpigmentation of the skin	207	AKT1	ORPHA:744
HP:0000953	Hyperpigmentation of the skin	3081	HGD	ORPHA:56
HP:0000953	Hyperpigmentation of the skin	8517	IKBKG	ORPHA:464
HP:0000953	Hyperpigmentation of the skin	1294	COL7A1	ORPHA:89842
HP:0000953	Hyperpigmentation of the skin	203068	TUBB	ORPHA:2505
HP:0000953	Hyperpigmentation of the skin	10982	MAPRE2	ORPHA:2505
HP:0000953	Hyperpigmentation of the skin	2707	GJB3	ORPHA:317
HP:0000953	Hyperpigmentation of the skin	2531	KDSR	ORPHA:317
HP:0000953	Hyperpigmentation of the skin	127534	GJB4	ORPHA:317
HP:0000953	Hyperpigmentation of the skin	3930	LBR	ORPHA:779
HP:0000953	Hyperpigmentation of the skin	1281	COL3A1	ORPHA:2500
HP:0000953	Hyperpigmentation of the skin	11005	SPINK5	ORPHA:634
HP:0000953	Hyperpigmentation of the skin	5116	PCNT	OMIM:210720
HP:0000953	Hyperpigmentation of the skin	1308	COL17A1	OMIM:619787
HP:0000953	Hyperpigmentation of the skin	2783	GNB2	OMIM:619503
HP:0000953	Hyperpigmentation of the skin	6418	SET	OMIM:618106
HP:0000953	Hyperpigmentation of the skin	5932	RBBP8	OMIM:606744
HP:0000953	Hyperpigmentation of the skin	9319	TRIP13	OMIM:617598
HP:0000953	Hyperpigmentation of the skin	64864	RFX7	OMIM:620330
HP:0000953	Hyperpigmentation of the skin	5604	MAP2K1	ORPHA:1340
HP:0000953	Hyperpigmentation of the skin	5605	MAP2K2	ORPHA:1340
HP:0000953	Hyperpigmentation of the skin	3643	INSR	ORPHA:2297
HP:0000953	Hyperpigmentation of the skin	5080	PAX6	ORPHA:2253
HP:0000953	Hyperpigmentation of the skin	51750	RTEL1	ORPHA:3322
HP:0000953	Hyperpigmentation of the skin	65057	ACD	ORPHA:3322
HP:0000953	Hyperpigmentation of the skin	5073	PARN	ORPHA:3322
HP:0000953	Hyperpigmentation of the skin	7015	TERT	ORPHA:3322
HP:0000953	Hyperpigmentation of the skin	26277	TINF2	ORPHA:3322
HP:0000953	Hyperpigmentation of the skin	29926	GMPPA	ORPHA:869
HP:0000953	Hyperpigmentation of the skin	60684	TRAPPC11	ORPHA:869
HP:0000953	Hyperpigmentation of the skin	83550	GPR101	ORPHA:963
HP:0000953	Hyperpigmentation of the skin	9049	AIP	ORPHA:963
HP:0000953	Hyperpigmentation of the skin	6770	STAR	ORPHA:361
HP:0000953	Hyperpigmentation of the skin	23530	NNT	ORPHA:361
HP:0000953	Hyperpigmentation of the skin	4644	MYO5A	ORPHA:33445
HP:0000953	Hyperpigmentation of the skin	10457	GPNMB	OMIM:617920
HP:0000953	Hyperpigmentation of the skin	224	ALDH3A2	ORPHA:816
HP:0000953	Hyperpigmentation of the skin	526	ATP6V1B2	ORPHA:3473
HP:0000953	Hyperpigmentation of the skin	3756	KCNH1	ORPHA:3473
HP:0000953	Hyperpigmentation of the skin	3782	KCNN3	ORPHA:3473
HP:0000953	Hyperpigmentation of the skin	3662	IRF4	ORPHA:3452
HP:0000953	Hyperpigmentation of the skin	23556	PIGN	ORPHA:280633
HP:0000953	Hyperpigmentation of the skin	91039	DPP9	OMIM:620331
HP:0000953	Hyperpigmentation of the skin	103	ADAR	OMIM:127400
HP:0000953	Hyperpigmentation of the skin	4254	KITLG	OMIM:145250
HP:0000953	Hyperpigmentation of the skin	6611	SMS	ORPHA:3063
HP:0000953	Hyperpigmentation of the skin	7319	UBE2A	ORPHA:163956
HP:0000953	Hyperpigmentation of the skin	2260	FGFR1	OMIM:613001
HP:0000953	Hyperpigmentation of the skin	64840	PORCN	OMIM:305600
HP:0000953	Hyperpigmentation of the skin	4436	MSH2	OMIM:619096
HP:0000953	Hyperpigmentation of the skin	2956	MSH6	OMIM:619097
HP:0000953	Hyperpigmentation of the skin	5980	REV3L	ORPHA:570
HP:0000953	Hyperpigmentation of the skin	23129	PLXND1	ORPHA:570
HP:0000953	Hyperpigmentation of the skin	11253	MAN1B1	ORPHA:397941
HP:0000953	Hyperpigmentation of the skin	8242	KDM5C	ORPHA:85279
HP:0000953	Hyperpigmentation of the skin	11322	TMC6	ORPHA:302
HP:0000953	Hyperpigmentation of the skin	3574	IL7	ORPHA:302
HP:0000953	Hyperpigmentation of the skin	147138	TMC8	ORPHA:302
HP:0000953	Hyperpigmentation of the skin	10519	CIB1	ORPHA:302
HP:0000953	Hyperpigmentation of the skin	4292	MLH1	OMIM:276300
HP:0000953	Hyperpigmentation of the skin	10483	SEC23B	ORPHA:201
HP:0000953	Hyperpigmentation of the skin	6392	SDHD	ORPHA:201
HP:0000953	Hyperpigmentation of the skin	205717	USF3	ORPHA:201
HP:0000953	Hyperpigmentation of the skin	100144748	KLLN	ORPHA:201
HP:0000953	Hyperpigmentation of the skin	117581	TWIST2	ORPHA:1807
HP:0000953	Hyperpigmentation of the skin	9184	BUB3	ORPHA:1052
HP:0000953	Hyperpigmentation of the skin	701	BUB1B	ORPHA:1052
HP:0000953	Hyperpigmentation of the skin	5395	PMS2	OMIM:619101
HP:0000953	Hyperpigmentation of the skin	473	RERE	OMIM:616975
HP:0000953	Hyperpigmentation of the skin	151188	ARL6IP6	ORPHA:1556
HP:0000953	Hyperpigmentation of the skin	4358	MPV17	OMIM:256810
HP:0000953	Hyperpigmentation of the skin	6117	RPA1	OMIM:619767
HP:0000953	Hyperpigmentation of the skin	5422	POLA1	OMIM:301220
HP:0000953	Hyperpigmentation of the skin	4157	MC1R	OMIM:203200
HP:0000953	Hyperpigmentation of the skin	4948	OCA2	OMIM:203200
HP:0000953	Hyperpigmentation of the skin	3257	HPS1	OMIM:203300
HP:0000953	Hyperpigmentation of the skin	56983	POGLUT1	ORPHA:79145
HP:0000953	Hyperpigmentation of the skin	23509	POFUT1	ORPHA:79145
HP:0000953	Hyperpigmentation of the skin	55851	PSENEN	ORPHA:79145
HP:0000953	Hyperpigmentation of the skin	374969	SVBP	OMIM:618569
HP:0000953	Hyperpigmentation of the skin	715	C1R	OMIM:130080
HP:0000953	Hyperpigmentation of the skin	716	C1S	OMIM:617174
HP:0033660	Hand paresthesia	9517	SPTLC2	OMIM:613640
HP:0033660	Hand paresthesia	5376	PMP22	OMIM:162500
HP:0033660	Hand paresthesia	1311	COMP	OMIM:619161
HP:0033662	Air bronchogram	1536	CYBB	OMIM:306400
HP:0033665	Diminished health-related quality of life	3081	HGD	OMIM:203500
HP:0033666	Diminished physical functioning	3081	HGD	OMIM:203500
HP:0025112	Auditory sensitivity	56947	MFF	ORPHA:485421
HP:0025112	Auditory sensitivity	26053	AUTS2	OMIM:615834
HP:0025112	Auditory sensitivity	26053	AUTS2	ORPHA:352490
HP:0025114	Hypergranulosis	59344	ALOXE3	OMIM:242100
HP:0025114	Hypergranulosis	242	ALOX12B	OMIM:242100
HP:0025114	Hypergranulosis	4014	LORICRIN	OMIM:604117
HP:0025114	Hypergranulosis	4014	LORICRIN	ORPHA:79395
HP:0025114	Hypergranulosis	204219	CERS3	OMIM:615023
HP:0025114	Hypergranulosis	285848	PNPLA1	OMIM:615024
HP:0025114	Hypergranulosis	2707	GJB3	OMIM:133200
HP:0025114	Hypergranulosis	121214	SDR9C7	OMIM:617574
HP:0025114	Hypergranulosis	3858	KRT10	OMIM:620707
HP:0025114	Hypergranulosis	2697	GJA1	OMIM:617525
HP:0025114	Hypergranulosis	5167	ENPP1	OMIM:615522
HP:0025114	Hypergranulosis	56983	POGLUT1	OMIM:615696
HP:0025114	Hypergranulosis	79092	CARD14	OMIM:173200
HP:0025114	Hypergranulosis	8710	SERPINB7	OMIM:615598
HP:0025114	Hypergranulosis	3868	KRT16	ORPHA:2199
HP:0025114	Hypergranulosis	3857	KRT9	ORPHA:2199
HP:0025114	Hypergranulosis	3848	KRT1	ORPHA:2199
HP:0025114	Hypergranulosis	488	ATP2A2	ORPHA:79151
HP:0025114	Hypergranulosis	643418	LIPN	OMIM:613943
HP:0025114	Hypergranulosis	1828	DSG1	OMIM:615508
HP:0025114	Hypergranulosis	1828	DSG1	OMIM:148700
HP:0025114	Hypergranulosis	80326	WNT10A	OMIM:257980
HP:0025114	Hypergranulosis	79719	AAGAB	OMIM:148600
HP:0025114	Hypergranulosis	79719	AAGAB	ORPHA:79501
HP:0025114	Hypergranulosis	7373	COL14A1	ORPHA:79501
HP:0025115	Civatte bodies	64131	XYLT1	OMIM:264800
HP:0025115	Civatte bodies	64132	XYLT2	OMIM:264800
HP:0025115	Civatte bodies	368	ABCC6	OMIM:264800
HP:0025116	Fetal distress	699	BUB1	OMIM:620183
HP:0025116	Fetal distress	10128	LRPPRC	OMIM:220111
HP:0025116	Fetal distress	11212	PLPBP	OMIM:617290
HP:0025116	Fetal distress	11212	PLPBP	ORPHA:3006
HP:0025116	Fetal distress	54539	NDUFB11	ORPHA:2609
HP:0025116	Fetal distress	25915	NDUFAF3	ORPHA:2609
HP:0025116	Fetal distress	51103	NDUFAF1	ORPHA:2609
HP:0025116	Fetal distress	91942	NDUFAF2	ORPHA:2609
HP:0025116	Fetal distress	51300	TIMMDC1	ORPHA:2609
HP:0025116	Fetal distress	4716	NDUFB10	ORPHA:2609
HP:0025116	Fetal distress	4723	NDUFV1	ORPHA:2609
HP:0025116	Fetal distress	55572	FOXRED1	ORPHA:2609
HP:0025116	Fetal distress	284184	NDUFAF8	ORPHA:2609
HP:0025116	Fetal distress	55863	TMEM126B	ORPHA:2609
HP:0025116	Fetal distress	4535	MT-ND1	ORPHA:2609
HP:0025116	Fetal distress	4537	MT-ND3	ORPHA:2609
HP:0025116	Fetal distress	4729	NDUFV2	ORPHA:2609
HP:0025116	Fetal distress	4694	NDUFA1	ORPHA:2609
HP:0025116	Fetal distress	4720	NDUFS2	ORPHA:2609
HP:0025116	Fetal distress	4724	NDUFS4	ORPHA:2609
HP:0025116	Fetal distress	4726	NDUFS6	ORPHA:2609
HP:0025116	Fetal distress	4728	NDUFS8	ORPHA:2609
HP:0025116	Fetal distress	4722	NDUFS3	ORPHA:2609
HP:0025116	Fetal distress	79133	NDUFAF5	ORPHA:2609
HP:0025116	Fetal distress	126328	NDUFA11	ORPHA:2609
HP:0025116	Fetal distress	4709	NDUFB3	ORPHA:2609
HP:0025116	Fetal distress	80224	NUBPL	ORPHA:2609
HP:0025116	Fetal distress	29078	NDUFAF4	ORPHA:2609
HP:0025116	Fetal distress	374291	NDUFS7	ORPHA:2609
HP:0025116	Fetal distress	4700	NDUFA6	ORPHA:2609
HP:0025116	Fetal distress	4536	MT-ND2	ORPHA:2609
HP:0025116	Fetal distress	4719	NDUFS1	ORPHA:2609
HP:0025116	Fetal distress	4715	NDUFB9	ORPHA:2609
HP:0025116	Fetal distress	23013	SPEN	OMIM:619312
HP:0025116	Fetal distress	10664	CTCF	ORPHA:363611
HP:0025116	Fetal distress	79989	IFT56	OMIM:619534
HP:0025116	Fetal distress	2334	AFF2	OMIM:309548
HP:0025116	Fetal distress	10526	IPO8	OMIM:619472
HP:0025116	Fetal distress	6651	SON	ORPHA:500150
HP:0025116	Fetal distress	5167	ENPP1	ORPHA:51608
HP:0025116	Fetal distress	5167	ENPP1	OMIM:208000
HP:0025116	Fetal distress	368	ABCC6	ORPHA:51608
HP:0025116	Fetal distress	28962	OSTM1	ORPHA:85179
HP:0025116	Fetal distress	5393	EXOSC9	OMIM:618065
HP:0025116	Fetal distress	4000	LMNA	OMIM:619793
HP:0025116	Fetal distress	4705	NDUFA10	OMIM:618243
HP:0025116	Fetal distress	11274	USP18	OMIM:617397
HP:0025116	Fetal distress	6135	RPL11	OMIM:612562
HP:0025116	Fetal distress	816	CAMK2B	OMIM:617799
HP:0025116	Fetal distress	5828	PEX2	OMIM:614866
HP:0025116	Fetal distress	1788	DNMT3A	OMIM:615879
HP:0025116	Fetal distress	9570	GOSR2	OMIM:620166
HP:0025116	Fetal distress	501	ALDH7A1	ORPHA:3006
HP:0025116	Fetal distress	501	ALDH7A1	OMIM:266100
HP:0025116	Fetal distress	5205	ATP8B1	OMIM:147480
HP:0025116	Fetal distress	6536	SLC6A9	OMIM:617301
HP:0025116	Fetal distress	5277	PIGA	OMIM:300868
HP:0025116	Fetal distress	284361	EMC10	OMIM:619264
HP:0025116	Fetal distress	5244	ABCB4	OMIM:614972
HP:0025116	Fetal distress	56479	KCNQ5	OMIM:617601
HP:0025116	Fetal distress	2137	EXTL3	OMIM:617425
HP:0025116	Fetal distress	10320	IKZF1	OMIM:616873
HP:0025116	Fetal distress	3557	IL1RN	OMIM:612852
HP:0025116	Fetal distress	55210	ATAD3A	OMIM:618810
HP:0025116	Fetal distress	6513	SLC2A1	OMIM:608885
HP:0025116	Fetal distress	5826	ABCD4	OMIM:614857
HP:0025116	Fetal distress	8905	AP1S2	OMIM:304340
HP:0025116	Fetal distress	1353	COX11	OMIM:620275
HP:0025118	Lip discoloration	1528	CYB5A	ORPHA:621
HP:0025118	Lip discoloration	1727	CYB5R3	ORPHA:621
HP:0033668	Abnormal amygdala morphology	1182	CLCN3	OMIM:619517
HP:0000992	Cutaneous photosensitivity	3858	KRT10	ORPHA:312
HP:0000992	Cutaneous photosensitivity	3848	KRT1	ORPHA:312
HP:0000992	Cutaneous photosensitivity	2074	ERCC6	OMIM:133540
HP:0000992	Cutaneous photosensitivity	2074	ERCC6	ORPHA:90324
HP:0000992	Cutaneous photosensitivity	2074	ERCC6	ORPHA:90321
HP:0000992	Cutaneous photosensitivity	2074	ERCC6	OMIM:600630
HP:0000992	Cutaneous photosensitivity	2074	ERCC6	ORPHA:1466
HP:0000992	Cutaneous photosensitivity	2074	ERCC6	OMIM:278800
HP:0000992	Cutaneous photosensitivity	720	C4A	OMIM:614380
HP:0000992	Cutaneous photosensitivity	720	C4A	ORPHA:536
HP:0000992	Cutaneous photosensitivity	212	ALAS2	OMIM:300752
HP:0000992	Cutaneous photosensitivity	1763	DNA2	OMIM:620819
HP:0000992	Cutaneous photosensitivity	1161	ERCC8	ORPHA:90324
HP:0000992	Cutaneous photosensitivity	1161	ERCC8	ORPHA:90321
HP:0000992	Cutaneous photosensitivity	1161	ERCC8	OMIM:216400
HP:0000992	Cutaneous photosensitivity	1161	ERCC8	OMIM:614621
HP:0000992	Cutaneous photosensitivity	1643	DDB2	OMIM:278740
HP:0000992	Cutaneous photosensitivity	1643	DDB2	ORPHA:910
HP:0000992	Cutaneous photosensitivity	7518	XRCC4	ORPHA:99812
HP:0000992	Cutaneous photosensitivity	3981	LIG4	ORPHA:99812
HP:0000992	Cutaneous photosensitivity	3981	LIG4	OMIM:606593
HP:0000992	Cutaneous photosensitivity	144165	PRICKLE1	ORPHA:308
HP:0000992	Cutaneous photosensitivity	1476	CSTB	ORPHA:308
HP:0000992	Cutaneous photosensitivity	950	SCARB2	ORPHA:308
HP:0000992	Cutaneous photosensitivity	5111	PCNA	OMIM:615919
HP:0000992	Cutaneous photosensitivity	5111	PCNA	ORPHA:438134
HP:0000992	Cutaneous photosensitivity	100033413	SNORD116-1	OMIM:176270
HP:0000992	Cutaneous photosensitivity	8924	HERC2	OMIM:176270
HP:0000992	Cutaneous photosensitivity	23742	NPAP1	OMIM:176270
HP:0000992	Cutaneous photosensitivity	338433	SNORD115-1	OMIM:176270
HP:0000992	Cutaneous photosensitivity	54551	MAGEL2	OMIM:176270
HP:0000992	Cutaneous photosensitivity	7681	MKRN3	OMIM:176270
HP:0000992	Cutaneous photosensitivity	145624	PWAR1	OMIM:176270
HP:0000992	Cutaneous photosensitivity	3653	IPW	OMIM:176270
HP:0000992	Cutaneous photosensitivity	791114	PWRN1	OMIM:176270
HP:0000992	Cutaneous photosensitivity	2072	ERCC4	ORPHA:90321
HP:0000992	Cutaneous photosensitivity	2072	ERCC4	OMIM:278760
HP:0000992	Cutaneous photosensitivity	2072	ERCC4	ORPHA:220295
HP:0000992	Cutaneous photosensitivity	2072	ERCC4	OMIM:610965
HP:0000992	Cutaneous photosensitivity	2072	ERCC4	ORPHA:910
HP:0000992	Cutaneous photosensitivity	9401	RECQL4	OMIM:268400
HP:0000992	Cutaneous photosensitivity	2073	ERCC5	OMIM:616570
HP:0000992	Cutaneous photosensitivity	2073	ERCC5	ORPHA:1466
HP:0000992	Cutaneous photosensitivity	2073	ERCC5	OMIM:278780
HP:0000992	Cutaneous photosensitivity	2073	ERCC5	ORPHA:220295
HP:0000992	Cutaneous photosensitivity	2073	ERCC5	ORPHA:910
HP:0000992	Cutaneous photosensitivity	6096	RORB	OMIM:618357
HP:0000992	Cutaneous photosensitivity	1294	COL7A1	ORPHA:158673
HP:0000992	Cutaneous photosensitivity	5429	POLH	OMIM:278750
HP:0000992	Cutaneous photosensitivity	5429	POLH	ORPHA:90342
HP:0000992	Cutaneous photosensitivity	5498	PPOX	OMIM:176200
HP:0000992	Cutaneous photosensitivity	5498	PPOX	ORPHA:79473
HP:0000992	Cutaneous photosensitivity	5498	PPOX	OMIM:620483
HP:0000992	Cutaneous photosensitivity	1717	DHCR7	ORPHA:818
HP:0000992	Cutaneous photosensitivity	8626	TP63	OMIM:103285
HP:0000992	Cutaneous photosensitivity	2068	ERCC2	OMIM:610756
HP:0000992	Cutaneous photosensitivity	2068	ERCC2	ORPHA:1466
HP:0000992	Cutaneous photosensitivity	2068	ERCC2	OMIM:601675
HP:0000992	Cutaneous photosensitivity	2068	ERCC2	ORPHA:220295
HP:0000992	Cutaneous photosensitivity	2068	ERCC2	ORPHA:33364
HP:0000992	Cutaneous photosensitivity	2068	ERCC2	OMIM:278730
HP:0000992	Cutaneous photosensitivity	2068	ERCC2	ORPHA:910
HP:0000992	Cutaneous photosensitivity	1536	CYBB	ORPHA:379
HP:0000992	Cutaneous photosensitivity	4688	NCF2	ORPHA:379
HP:0000992	Cutaneous photosensitivity	1535	CYBA	ORPHA:379
HP:0000992	Cutaneous photosensitivity	4689	NCF4	ORPHA:379
HP:0000992	Cutaneous photosensitivity	653361	NCF1	ORPHA:379
HP:0000992	Cutaneous photosensitivity	79415	CYBC1	ORPHA:379
HP:0000992	Cutaneous photosensitivity	2215	FCGR3B	ORPHA:536
HP:0000992	Cutaneous photosensitivity	6775	STAT4	ORPHA:536
HP:0000992	Cutaneous photosensitivity	3684	ITGAM	ORPHA:536
HP:0000992	Cutaneous photosensitivity	3586	IL10	ORPHA:536
HP:0000992	Cutaneous photosensitivity	221895	JAZF1	ORPHA:536
HP:0000992	Cutaneous photosensitivity	11277	TREX1	ORPHA:536
HP:0000992	Cutaneous photosensitivity	11277	TREX1	OMIM:610448
HP:0000992	Cutaneous photosensitivity	11277	TREX1	OMIM:152700
HP:0000992	Cutaneous photosensitivity	7292	TNFSF4	ORPHA:536
HP:0000992	Cutaneous photosensitivity	640	BLK	ORPHA:536
HP:0000992	Cutaneous photosensitivity	55024	BANK1	ORPHA:536
HP:0000992	Cutaneous photosensitivity	3500	IGHG1	ORPHA:536
HP:0000992	Cutaneous photosensitivity	3654	IRAK1	ORPHA:536
HP:0000992	Cutaneous photosensitivity	1493	CTLA4	ORPHA:536
HP:0000992	Cutaneous photosensitivity	1493	CTLA4	OMIM:152700
HP:0000992	Cutaneous photosensitivity	26191	PTPN22	ORPHA:536
HP:0000992	Cutaneous photosensitivity	26191	PTPN22	OMIM:152700
HP:0000992	Cutaneous photosensitivity	1380	CR2	ORPHA:536
HP:0000992	Cutaneous photosensitivity	5133	PDCD1	ORPHA:536
HP:0000992	Cutaneous photosensitivity	2113	ETS1	ORPHA:536
HP:0000992	Cutaneous photosensitivity	2213	FCGR2B	ORPHA:536
HP:0000992	Cutaneous photosensitivity	2213	FCGR2B	OMIM:152700
HP:0000992	Cutaneous photosensitivity	10318	TNIP1	ORPHA:536
HP:0000992	Cutaneous photosensitivity	7332	UBE2L3	ORPHA:536
HP:0000992	Cutaneous photosensitivity	79932	KIAA0319L	ORPHA:536
HP:0000992	Cutaneous photosensitivity	4204	MECP2	ORPHA:536
HP:0000992	Cutaneous photosensitivity	3663	IRF5	ORPHA:536
HP:0000992	Cutaneous photosensitivity	3123	HLA-DRB1	ORPHA:536
HP:0000992	Cutaneous photosensitivity	721	C4B	ORPHA:536
HP:0000992	Cutaneous photosensitivity	1773	DNASE1	ORPHA:536
HP:0000992	Cutaneous photosensitivity	1773	DNASE1	OMIM:152700
HP:0000992	Cutaneous photosensitivity	51284	TLR7	ORPHA:536
HP:0000992	Cutaneous photosensitivity	6696	SPP1	ORPHA:536
HP:0000992	Cutaneous photosensitivity	54899	PXK	ORPHA:536
HP:0000992	Cutaneous photosensitivity	7128	TNFAIP3	ORPHA:536
HP:0000992	Cutaneous photosensitivity	64135	IFIH1	OMIM:182250
HP:0000992	Cutaneous photosensitivity	8831	SYNGAP1	ORPHA:544254
HP:0000992	Cutaneous photosensitivity	2067	ERCC1	ORPHA:1466
HP:0000992	Cutaneous photosensitivity	340024	SLC6A19	OMIM:234500
HP:0000992	Cutaneous photosensitivity	340024	SLC6A19	ORPHA:2116
HP:0000992	Cutaneous photosensitivity	1130	LYST	ORPHA:167
HP:0000992	Cutaneous photosensitivity	10845	CLPX	OMIM:618015
HP:0000992	Cutaneous photosensitivity	1656	DDX6	OMIM:618653
HP:0000992	Cutaneous photosensitivity	146206	CARMIL2	OMIM:618131
HP:0000992	Cutaneous photosensitivity	1371	CPOX	OMIM:618892
HP:0000992	Cutaneous photosensitivity	1371	CPOX	OMIM:121300
HP:0000992	Cutaneous photosensitivity	1371	CPOX	ORPHA:79273
HP:0000992	Cutaneous photosensitivity	2071	ERCC3	OMIM:610651
HP:0000992	Cutaneous photosensitivity	2071	ERCC3	ORPHA:220295
HP:0000992	Cutaneous photosensitivity	2071	ERCC3	ORPHA:33364
HP:0000992	Cutaneous photosensitivity	2071	ERCC3	OMIM:616390
HP:0000992	Cutaneous photosensitivity	2071	ERCC3	ORPHA:910
HP:0000992	Cutaneous photosensitivity	2697	GJA1	ORPHA:317
HP:0000992	Cutaneous photosensitivity	2707	GJB3	ORPHA:317
HP:0000992	Cutaneous photosensitivity	2531	KDSR	ORPHA:317
HP:0000992	Cutaneous photosensitivity	127534	GJB4	ORPHA:317
HP:0000992	Cutaneous photosensitivity	7737	RNF113A	OMIM:300953
HP:0000992	Cutaneous photosensitivity	7737	RNF113A	ORPHA:33364
HP:0000992	Cutaneous photosensitivity	6897	TARS1	OMIM:618546
HP:0000992	Cutaneous photosensitivity	6897	TARS1	ORPHA:33364
HP:0000992	Cutaneous photosensitivity	375748	ERCC6L2	OMIM:615715
HP:0000992	Cutaneous photosensitivity	5184	PEPD	ORPHA:742
HP:0000992	Cutaneous photosensitivity	7507	XPA	OMIM:278700
HP:0000992	Cutaneous photosensitivity	7507	XPA	ORPHA:910
HP:0000992	Cutaneous photosensitivity	284252	KCTD1	OMIM:181270
HP:0000992	Cutaneous photosensitivity	2222	FDFT1	OMIM:618156
HP:0000992	Cutaneous photosensitivity	641	BLM	OMIM:210900
HP:0000992	Cutaneous photosensitivity	641	BLM	ORPHA:125
HP:0000992	Cutaneous photosensitivity	55612	FERMT1	OMIM:173650
HP:0000992	Cutaneous photosensitivity	55612	FERMT1	ORPHA:2908
HP:0000992	Cutaneous photosensitivity	10654	PMVK	ORPHA:735
HP:0000992	Cutaneous photosensitivity	4598	MVK	ORPHA:735
HP:0000992	Cutaneous photosensitivity	4598	MVK	ORPHA:79152
HP:0000992	Cutaneous photosensitivity	7390	UROS	OMIM:263700
HP:0000992	Cutaneous photosensitivity	57393	CLTRN	ORPHA:2116
HP:0000992	Cutaneous photosensitivity	57654	UVSSA	OMIM:614640
HP:0000992	Cutaneous photosensitivity	2961	GTF2E2	OMIM:616943
HP:0000992	Cutaneous photosensitivity	2961	GTF2E2	ORPHA:33364
HP:0000992	Cutaneous photosensitivity	4683	NBN	ORPHA:647
HP:0000992	Cutaneous photosensitivity	404672	GTF2H5	ORPHA:33364
HP:0000992	Cutaneous photosensitivity	404672	GTF2H5	OMIM:616395
HP:0000992	Cutaneous photosensitivity	833	CARS1	ORPHA:33364
HP:0000992	Cutaneous photosensitivity	136647	MPLKIP	ORPHA:33364
HP:0000992	Cutaneous photosensitivity	16	AARS1	ORPHA:33364
HP:0000992	Cutaneous photosensitivity	7508	XPC	OMIM:278720
HP:0000992	Cutaneous photosensitivity	7508	XPC	ORPHA:910
HP:0000992	Cutaneous photosensitivity	5965	RECQL	OMIM:620370
HP:0000992	Cutaneous photosensitivity	10058	ABCB6	ORPHA:241
HP:0000992	Cutaneous photosensitivity	10457	GPNMB	OMIM:617920
HP:0000992	Cutaneous photosensitivity	2212	FCGR2A	OMIM:152700
HP:0000992	Cutaneous photosensitivity	7957	EPM2A	OMIM:254780
HP:0000992	Cutaneous photosensitivity	25939	SAMHD1	OMIM:614415
HP:0000992	Cutaneous photosensitivity	2224	FDPS	ORPHA:79152
HP:0000992	Cutaneous photosensitivity	4597	MVD	ORPHA:79152
HP:0000992	Cutaneous photosensitivity	63910	SLC17A9	ORPHA:79152
HP:0000992	Cutaneous photosensitivity	7389	UROD	OMIM:176100
HP:0000992	Cutaneous photosensitivity	3852	KRT5	ORPHA:79397
HP:0000992	Cutaneous photosensitivity	3861	KRT14	ORPHA:79397
HP:0000992	Cutaneous photosensitivity	2235	FECH	ORPHA:79278
HP:0000992	Cutaneous photosensitivity	2623	GATA1	ORPHA:79277
HP:0000992	Cutaneous photosensitivity	378884	NHLRC1	ORPHA:501
HP:0000222	Gingival hyperkeratosis	9509	ADAMTS2	OMIM:225410
HP:0033670	Organizing pneumonia	567	B2M	OMIM:241600
HP:0033672	Positive carpal Tinel sign	1311	COMP	OMIM:619161
HP:0033673	Positive Phalen test	1311	COMP	OMIM:619161
HP:0033677	Acute respiratory distress syndrome	5557	PRIM1	OMIM:620005
HP:0033677	Acute respiratory distress syndrome	139818	DOCK11	OMIM:301109
HP:0033677	Acute respiratory distress syndrome	11274	USP18	OMIM:617397
HP:0012841	Retinal vascular tortuosity	90952	ESAM	OMIM:620371
HP:0012841	Retinal vascular tortuosity	84168	ANTXR1	OMIM:230740
HP:0012841	Retinal vascular tortuosity	6804	STX1A	ORPHA:904
HP:0012841	Retinal vascular tortuosity	7461	CLIP2	ORPHA:904
HP:0012841	Retinal vascular tortuosity	8468	FKBP6	ORPHA:904
HP:0012841	Retinal vascular tortuosity	5982	RFC2	ORPHA:904
HP:0012841	Retinal vascular tortuosity	2969	GTF2I	ORPHA:904
HP:0012841	Retinal vascular tortuosity	3984	LIMK1	ORPHA:904
HP:0012841	Retinal vascular tortuosity	9569	GTF2IRD1	ORPHA:904
HP:0012841	Retinal vascular tortuosity	155382	VPS37D	ORPHA:904
HP:0012841	Retinal vascular tortuosity	155368	METTL27	ORPHA:904
HP:0012841	Retinal vascular tortuosity	114049	BUD23	ORPHA:904
HP:0012841	Retinal vascular tortuosity	7458	EIF4H	ORPHA:904
HP:0012841	Retinal vascular tortuosity	84163	GTF2IRD2	ORPHA:904
HP:0012841	Retinal vascular tortuosity	26608	TBL2	ORPHA:904
HP:0012841	Retinal vascular tortuosity	653361	NCF1	ORPHA:904
HP:0012841	Retinal vascular tortuosity	135886	TMEM270	ORPHA:904
HP:0012841	Retinal vascular tortuosity	9031	BAZ1B	ORPHA:904
HP:0012841	Retinal vascular tortuosity	2006	ELN	ORPHA:904
HP:0012841	Retinal vascular tortuosity	2006	ELN	OMIM:194050
HP:0012841	Retinal vascular tortuosity	4041	LRP5	ORPHA:90050
HP:0012841	Retinal vascular tortuosity	8322	FZD4	ORPHA:90050
HP:0012841	Retinal vascular tortuosity	51085	MLXIPL	OMIM:194050
HP:0012841	Retinal vascular tortuosity	1312	COMT	ORPHA:567
HP:0012841	Retinal vascular tortuosity	221037	JMJD1C	ORPHA:567
HP:0012841	Retinal vascular tortuosity	2812	GP1BB	ORPHA:567
HP:0012841	Retinal vascular tortuosity	6239	RREB1	ORPHA:567
HP:0012841	Retinal vascular tortuosity	7290	HIRA	ORPHA:567
HP:0012841	Retinal vascular tortuosity	9632	SEC24C	ORPHA:567
HP:0012841	Retinal vascular tortuosity	7353	UFD1	ORPHA:567
HP:0012841	Retinal vascular tortuosity	421	ARVCF	ORPHA:567
HP:0012841	Retinal vascular tortuosity	4750	NEK1	ORPHA:2751
HP:0012841	Retinal vascular tortuosity	23474	ETHE1	ORPHA:51188
HP:0012841	Retinal vascular tortuosity	26160	IFT172	OMIM:619471
HP:0012841	Retinal vascular tortuosity	1282	COL4A1	ORPHA:73229
HP:0012841	Retinal vascular tortuosity	54487	DGCR8	OMIM:192430
HP:0012841	Retinal vascular tortuosity	6899	TBX1	OMIM:192430
HP:0012841	Retinal vascular tortuosity	8214	DGCR6	OMIM:192430
HP:0012841	Retinal vascular tortuosity	8220	ESS2	OMIM:192430
HP:0012841	Retinal vascular tortuosity	9993	DGCR2	OMIM:192430
HP:0012841	Retinal vascular tortuosity	85465	SELENOI	OMIM:618768
HP:0012841	Retinal vascular tortuosity	1063	CENPF	OMIM:243605
HP:0012841	Retinal vascular tortuosity	3913	LAMB2	OMIM:609049
HP:0012841	Retinal vascular tortuosity	84277	DNAJC30	ORPHA:104
HP:0012841	Retinal vascular tortuosity	4535	MT-ND1	ORPHA:104
HP:0012841	Retinal vascular tortuosity	4536	MT-ND2	ORPHA:104
HP:0012841	Retinal vascular tortuosity	4538	MT-ND4	ORPHA:104
HP:0012841	Retinal vascular tortuosity	4720	NDUFS2	ORPHA:104
HP:0012841	Retinal vascular tortuosity	4512	MT-CO1	ORPHA:104
HP:0012841	Retinal vascular tortuosity	4514	MT-CO3	ORPHA:104
HP:0012841	Retinal vascular tortuosity	4519	MT-CYB	ORPHA:104
HP:0012841	Retinal vascular tortuosity	4508	MT-ATP6	ORPHA:104
HP:0012841	Retinal vascular tortuosity	4540	MT-ND5	ORPHA:104
HP:0012841	Retinal vascular tortuosity	4541	MT-ND6	ORPHA:104
HP:0012841	Retinal vascular tortuosity	4539	MT-ND4L	ORPHA:104
HP:0012841	Retinal vascular tortuosity	5080	PAX6	OMIM:106210
HP:0012841	Retinal vascular tortuosity	7490	WT1	OMIM:106210
HP:0012841	Retinal vascular tortuosity	4693	NDP	OMIM:305390
HP:0025124	Fragile teeth	8792	TNFRSF11A	OMIM:174810
HP:0025125	White lesion of the oral mucosa	7298	TYMS	OMIM:620040
HP:0025125	White lesion of the oral mucosa	7298	TYMS	ORPHA:1775
HP:0025125	White lesion of the oral mucosa	26277	TINF2	OMIM:268130
HP:0025125	White lesion of the oral mucosa	26277	TINF2	OMIM:613990
HP:0025125	White lesion of the oral mucosa	26277	TINF2	ORPHA:3322
HP:0025125	White lesion of the oral mucosa	26277	TINF2	ORPHA:1775
HP:0025125	White lesion of the oral mucosa	26277	TINF2	OMIM:127550
HP:0025125	White lesion of the oral mucosa	7157	TP53	OMIM:618165
HP:0025125	White lesion of the oral mucosa	3851	KRT4	OMIM:193900
HP:0025125	White lesion of the oral mucosa	55505	NOP10	OMIM:224230
HP:0025125	White lesion of the oral mucosa	55505	NOP10	ORPHA:1775
HP:0025125	White lesion of the oral mucosa	55651	NHP2	OMIM:224230
HP:0025125	White lesion of the oral mucosa	55651	NHP2	ORPHA:1775
HP:0025125	White lesion of the oral mucosa	55651	NHP2	OMIM:613987
HP:0025125	White lesion of the oral mucosa	79651	RHBDF2	OMIM:148500
HP:0025125	White lesion of the oral mucosa	286887	KRT6C	OMIM:615735
HP:0025125	White lesion of the oral mucosa	3868	KRT16	OMIM:167200
HP:0025125	White lesion of the oral mucosa	3868	KRT16	ORPHA:2309
HP:0025125	White lesion of the oral mucosa	1736	DKC1	OMIM:305000
HP:0025125	White lesion of the oral mucosa	1736	DKC1	ORPHA:3322
HP:0025125	White lesion of the oral mucosa	1736	DKC1	ORPHA:1775
HP:0025125	White lesion of the oral mucosa	51750	RTEL1	ORPHA:3322
HP:0025125	White lesion of the oral mucosa	51750	RTEL1	ORPHA:1775
HP:0025125	White lesion of the oral mucosa	65057	ACD	ORPHA:3322
HP:0025125	White lesion of the oral mucosa	65057	ACD	OMIM:616553
HP:0025125	White lesion of the oral mucosa	5073	PARN	ORPHA:3322
HP:0025125	White lesion of the oral mucosa	5073	PARN	OMIM:616353
HP:0025125	White lesion of the oral mucosa	5073	PARN	ORPHA:1775
HP:0025125	White lesion of the oral mucosa	7015	TERT	ORPHA:3322
HP:0025125	White lesion of the oral mucosa	7015	TERT	ORPHA:1775
HP:0025125	White lesion of the oral mucosa	7015	TERT	OMIM:127550
HP:0025125	White lesion of the oral mucosa	7015	TERT	OMIM:613989
HP:0025125	White lesion of the oral mucosa	4210	MEFV	ORPHA:342
HP:0025125	White lesion of the oral mucosa	831	CAST	OMIM:616295
HP:0025125	White lesion of the oral mucosa	80169	CTC1	OMIM:612199
HP:0025125	White lesion of the oral mucosa	80169	CTC1	ORPHA:1775
HP:0025125	White lesion of the oral mucosa	79650	USB1	ORPHA:1775
HP:0025125	White lesion of the oral mucosa	55135	WRAP53	ORPHA:1775
HP:0025125	White lesion of the oral mucosa	55135	WRAP53	OMIM:613988
HP:0025125	White lesion of the oral mucosa	4869	NPM1	ORPHA:1775
HP:0025125	White lesion of the oral mucosa	7012	TERC	ORPHA:1775
HP:0025125	White lesion of the oral mucosa	7012	TERC	OMIM:127550
HP:0025125	White lesion of the oral mucosa	55612	FERMT1	OMIM:173650
HP:0025125	White lesion of the oral mucosa	2706	GJB2	OMIM:148210
HP:0025125	White lesion of the oral mucosa	6117	RPA1	OMIM:619767
HP:0025125	White lesion of the oral mucosa	3872	KRT17	OMIM:167210
HP:0025125	White lesion of the oral mucosa	3872	KRT17	ORPHA:2309
HP:0025125	White lesion of the oral mucosa	3853	KRT6A	OMIM:615726
HP:0025125	White lesion of the oral mucosa	3853	KRT6A	ORPHA:2309
HP:0025125	White lesion of the oral mucosa	3854	KRT6B	ORPHA:2309
HP:0025125	White lesion of the oral mucosa	64858	DCLRE1B	OMIM:620133
HP:0025127	Actinic keratosis	545	ATR	OMIM:614564
HP:0025127	Actinic keratosis	7508	XPC	OMIM:278720
HP:0025128	Reduced intraabdominal adipose tissue	26580	BSCL2	ORPHA:363400
HP:0025128	Reduced intraabdominal adipose tissue	26580	BSCL2	OMIM:269700
HP:0025128	Reduced intraabdominal adipose tissue	10555	AGPAT2	OMIM:608594
HP:0025129	Abnormal small intestinal mucosa morphology	6809	STX3	ORPHA:2290
HP:0025129	Abnormal small intestinal mucosa morphology	4645	MYO5B	ORPHA:2290
HP:0025129	Abnormal small intestinal mucosa morphology	4351	MPI	OMIM:602579
HP:0025129	Abnormal small intestinal mucosa morphology	6772	STAT1	ORPHA:391487
HP:0025129	Abnormal small intestinal mucosa morphology	6772	STAT1	OMIM:614162
HP:0025129	Abnormal small intestinal mucosa morphology	5122	PCSK1	OMIM:600955
HP:0025129	Abnormal small intestinal mucosa morphology	55898	UNC45A	OMIM:619377
HP:0025129	Abnormal small intestinal mucosa morphology	10043	TOM1	OMIM:619510
HP:0025129	Abnormal small intestinal mucosa morphology	7482	WNT2B	OMIM:618168
HP:0025129	Abnormal small intestinal mucosa morphology	50619	DEF6	OMIM:619573
HP:0025129	Abnormal small intestinal mucosa morphology	9652	SKIC3	OMIM:222470
HP:0025129	Abnormal small intestinal mucosa morphology	9652	SKIC3	ORPHA:84064
HP:0025129	Abnormal small intestinal mucosa morphology	4261	CIITA	OMIM:209920
HP:0025129	Abnormal small intestinal mucosa morphology	6499	SKIC2	OMIM:614602
HP:0025129	Abnormal small intestinal mucosa morphology	6499	SKIC2	ORPHA:84064
HP:0025129	Abnormal small intestinal mucosa morphology	6868	ADAM17	OMIM:614328
HP:0025129	Abnormal small intestinal mucosa morphology	6550	SLC9A3	OMIM:616868
HP:0025129	Abnormal small intestinal mucosa morphology	987	LRBA	OMIM:614700
HP:0025129	Abnormal small intestinal mucosa morphology	79796	ALG9	OMIM:608776
HP:0025129	Abnormal small intestinal mucosa morphology	79796	ALG9	ORPHA:79328
HP:0025129	Abnormal small intestinal mucosa morphology	50943	FOXP3	OMIM:304790
HP:0025129	Abnormal small intestinal mucosa morphology	29110	TBK1	OMIM:620880
HP:0025129	Abnormal small intestinal mucosa morphology	6850	SYK	OMIM:619381
HP:0025129	Abnormal small intestinal mucosa morphology	10195	ALG3	OMIM:601110
HP:0025129	Abnormal small intestinal mucosa morphology	58484	NLRC4	OMIM:616050
HP:0025129	Abnormal small intestinal mucosa morphology	8694	DGAT1	OMIM:615863
HP:0025129	Abnormal small intestinal mucosa morphology	11005	SPINK5	OMIM:256500
HP:0025129	Abnormal small intestinal mucosa morphology	3559	IL2RA	OMIM:606367
HP:0025129	Abnormal small intestinal mucosa morphology	5373	PMM2	OMIM:212065
HP:0025129	Abnormal small intestinal mucosa morphology	4072	EPCAM	ORPHA:92050
HP:0025129	Abnormal small intestinal mucosa morphology	105371045	PERCC1	ORPHA:92050
HP:0025129	Abnormal small intestinal mucosa morphology	3938	LCT	OMIM:223000
HP:0025129	Abnormal small intestinal mucosa morphology	4175	MCM6	OMIM:223100
HP:0025129	Abnormal small intestinal mucosa morphology	51128	SAR1B	OMIM:246700
HP:0012848	Small intestinal stenosis	2294	FOXF1	ORPHA:210122
HP:0012848	Small intestinal stenosis	4089	SMAD4	OMIM:139210
HP:0012848	Small intestinal stenosis	64220	STRA6	ORPHA:2470
HP:0012848	Small intestinal stenosis	7477	WNT7B	ORPHA:2470
HP:0012848	Small intestinal stenosis	5915	RARB	ORPHA:2470
HP:0012848	Small intestinal stenosis	8318	CDC45	OMIM:617063
HP:0012848	Small intestinal stenosis	57217	TTC7A	ORPHA:2300
HP:0012848	Small intestinal stenosis	672	BRCA1	ORPHA:84
HP:0012848	Small intestinal stenosis	10459	MAD2L2	ORPHA:84
HP:0012848	Small intestinal stenosis	7516	XRCC2	ORPHA:84
HP:0012848	Small intestinal stenosis	29089	UBE2T	ORPHA:84
HP:0012848	Small intestinal stenosis	675	BRCA2	ORPHA:84
HP:0012848	Small intestinal stenosis	55120	FANCL	ORPHA:84
HP:0012848	Small intestinal stenosis	2177	FANCD2	ORPHA:84
HP:0012848	Small intestinal stenosis	2175	FANCA	ORPHA:84
HP:0012848	Small intestinal stenosis	2187	FANCB	ORPHA:84
HP:0012848	Small intestinal stenosis	2176	FANCC	ORPHA:84
HP:0012848	Small intestinal stenosis	2178	FANCE	ORPHA:84
HP:0012848	Small intestinal stenosis	2188	FANCF	ORPHA:84
HP:0012848	Small intestinal stenosis	2189	FANCG	ORPHA:84
HP:0012848	Small intestinal stenosis	5888	RAD51	ORPHA:84
HP:0012848	Small intestinal stenosis	5889	RAD51C	ORPHA:84
HP:0012848	Small intestinal stenosis	55159	RFWD3	ORPHA:84
HP:0012848	Small intestinal stenosis	83990	BRIP1	ORPHA:84
HP:0012848	Small intestinal stenosis	57697	FANCM	ORPHA:84
HP:0012848	Small intestinal stenosis	79728	PALB2	ORPHA:84
HP:0012848	Small intestinal stenosis	84464	SLX4	ORPHA:84
HP:0012848	Small intestinal stenosis	2072	ERCC4	ORPHA:84
HP:0012848	Small intestinal stenosis	55215	FANCI	ORPHA:84
HP:0012844	Trichilemmoma	10804	GJB6	ORPHA:477
HP:0012844	Trichilemmoma	2706	GJB2	ORPHA:477
HP:0012844	Trichilemmoma	10483	SEC23B	OMIM:616858
HP:0012844	Trichilemmoma	100144748	KLLN	OMIM:615107
HP:0012844	Trichilemmoma	5728	PTEN	ORPHA:65285
HP:0012847	Epilepsia partialis continua	56997	COQ8A	OMIM:612016
HP:0012847	Epilepsia partialis continua	29960	MRM2	OMIM:618567
HP:0012847	Epilepsia partialis continua	5428	POLG	OMIM:203700
HP:0012847	Epilepsia partialis continua	6335	SCN9A	ORPHA:33069
HP:0012847	Epilepsia partialis continua	6326	SCN2A	ORPHA:33069
HP:0012847	Epilepsia partialis continua	2554	GABRA1	ORPHA:33069
HP:0012847	Epilepsia partialis continua	6323	SCN1A	ORPHA:33069
HP:0012847	Epilepsia partialis continua	6324	SCN1B	ORPHA:33069
HP:0012847	Epilepsia partialis continua	57526	PCDH19	ORPHA:33069
HP:0012847	Epilepsia partialis continua	2566	GABRG2	ORPHA:33069
HP:0012847	Epilepsia partialis continua	56652	TWNK	OMIM:271245
HP:0012847	Epilepsia partialis continua	79736	TEFM	OMIM:620451
HP:0012842	Skin appendage neoplasm	10804	GJB6	ORPHA:477
HP:0012842	Skin appendage neoplasm	2706	GJB2	ORPHA:477
HP:0012842	Skin appendage neoplasm	10483	SEC23B	OMIM:616858
HP:0012842	Skin appendage neoplasm	100144748	KLLN	OMIM:615107
HP:0012842	Skin appendage neoplasm	5728	PTEN	ORPHA:65285
HP:0012842	Skin appendage neoplasm	4292	MLH1	OMIM:158320
HP:0012842	Skin appendage neoplasm	4436	MSH2	OMIM:158320
HP:0012842	Skin appendage neoplasm	1499	CTNNB1	OMIM:132600
HP:0012842	Skin appendage neoplasm	1499	CTNNB1	ORPHA:91414
HP:0012842	Skin appendage neoplasm	1387	CREBBP	ORPHA:353281
HP:0012842	Skin appendage neoplasm	1387	CREBBP	ORPHA:353277
HP:0012842	Skin appendage neoplasm	8085	KMT2D	ORPHA:2322
HP:0012842	Skin appendage neoplasm	7403	KDM6A	ORPHA:2322
HP:0012842	Skin appendage neoplasm	2033	EP300	ORPHA:353284
HP:0012842	Skin appendage neoplasm	324	APC	ORPHA:99818
HP:0012842	Skin appendage neoplasm	324	APC	ORPHA:247806
HP:0012842	Skin appendage neoplasm	324	APC	ORPHA:79665
HP:0012842	Skin appendage neoplasm	9817	KEAP1	ORPHA:276399
HP:0012842	Skin appendage neoplasm	23405	DICER1	ORPHA:276399
HP:0012842	Skin appendage neoplasm	8379	MAD1L1	OMIM:620189
HP:0012842	Skin appendage neoplasm	80326	WNT10A	OMIM:224750
HP:0012842	Skin appendage neoplasm	201163	FLCN	OMIM:135150
HP:0012843	Hair follicle neoplasm	10804	GJB6	ORPHA:477
HP:0012843	Hair follicle neoplasm	2706	GJB2	ORPHA:477
HP:0012843	Hair follicle neoplasm	10483	SEC23B	OMIM:616858
HP:0012843	Hair follicle neoplasm	100144748	KLLN	OMIM:615107
HP:0012843	Hair follicle neoplasm	5728	PTEN	ORPHA:65285
HP:0033678	Acute coronary syndrome	10019	SH2B3	OMIM:133100
HP:0033678	Acute coronary syndrome	10019	SH2B3	ORPHA:3318
HP:0033678	Acute coronary syndrome	3717	JAK2	OMIM:133100
HP:0033678	Acute coronary syndrome	3717	JAK2	ORPHA:3318
HP:0033678	Acute coronary syndrome	2057	EPOR	OMIM:133100
HP:0033678	Acute coronary syndrome	63036	CELA2A	OMIM:618620
HP:0033678	Acute coronary syndrome	6340	SCNN1G	ORPHA:60033
HP:0033678	Acute coronary syndrome	1080	CFTR	ORPHA:60033
HP:0033678	Acute coronary syndrome	6337	SCNN1A	ORPHA:60033
HP:0033678	Acute coronary syndrome	6338	SCNN1B	ORPHA:60033
HP:0033678	Acute coronary syndrome	19	ABCA1	OMIM:604091
HP:0033678	Acute coronary syndrome	19	ABCA1	OMIM:205400
HP:0033678	Acute coronary syndrome	1593	CYP27A1	OMIM:213700
HP:0033678	Acute coronary syndrome	4625	MYH7	ORPHA:1880
HP:0033678	Acute coronary syndrome	6804	STX1A	ORPHA:904
HP:0033678	Acute coronary syndrome	7461	CLIP2	ORPHA:904
HP:0033678	Acute coronary syndrome	84277	DNAJC30	ORPHA:904
HP:0033678	Acute coronary syndrome	8468	FKBP6	ORPHA:904
HP:0033678	Acute coronary syndrome	5982	RFC2	ORPHA:904
HP:0033678	Acute coronary syndrome	2969	GTF2I	ORPHA:904
HP:0033678	Acute coronary syndrome	3984	LIMK1	ORPHA:904
HP:0033678	Acute coronary syndrome	9569	GTF2IRD1	ORPHA:904
HP:0033678	Acute coronary syndrome	155382	VPS37D	ORPHA:904
HP:0033678	Acute coronary syndrome	155368	METTL27	ORPHA:904
HP:0033678	Acute coronary syndrome	114049	BUD23	ORPHA:904
HP:0033678	Acute coronary syndrome	7458	EIF4H	ORPHA:904
HP:0033678	Acute coronary syndrome	84163	GTF2IRD2	ORPHA:904
HP:0033678	Acute coronary syndrome	26608	TBL2	ORPHA:904
HP:0033678	Acute coronary syndrome	653361	NCF1	ORPHA:904
HP:0033678	Acute coronary syndrome	135886	TMEM270	ORPHA:904
HP:0033678	Acute coronary syndrome	9031	BAZ1B	ORPHA:904
HP:0033678	Acute coronary syndrome	2006	ELN	ORPHA:904
HP:0033678	Acute coronary syndrome	81031	SLC2A10	ORPHA:3342
HP:0033678	Acute coronary syndrome	4000	LMNA	OMIM:176670
HP:0033678	Acute coronary syndrome	4000	LMNA	ORPHA:740
HP:0033678	Acute coronary syndrome	7486	WRN	ORPHA:902
HP:0033678	Acute coronary syndrome	5781	PTPN11	ORPHA:500
HP:0033678	Acute coronary syndrome	673	BRAF	ORPHA:500
HP:0033678	Acute coronary syndrome	673	BRAF	ORPHA:96253
HP:0033678	Acute coronary syndrome	673	BRAF	ORPHA:54595
HP:0033678	Acute coronary syndrome	5894	RAF1	ORPHA:500
HP:0033678	Acute coronary syndrome	4040	LRP6	OMIM:610947
HP:0033678	Acute coronary syndrome	4210	MEFV	ORPHA:342
HP:0033678	Acute coronary syndrome	4210	MEFV	ORPHA:117
HP:0033678	Acute coronary syndrome	10269	ZMPSTE24	ORPHA:740
HP:0033678	Acute coronary syndrome	368	ABCC6	OMIM:614473
HP:0033678	Acute coronary syndrome	11093	ADAMTS13	OMIM:274150
HP:0033678	Acute coronary syndrome	3662	IRF4	ORPHA:3452
HP:0033678	Acute coronary syndrome	4205	MEF2A	OMIM:608320
HP:0033678	Acute coronary syndrome	3949	LDLR	ORPHA:391665
HP:0033678	Acute coronary syndrome	255738	PCSK9	ORPHA:391665
HP:0033678	Acute coronary syndrome	26119	LDLRAP1	ORPHA:391665
HP:0033678	Acute coronary syndrome	338	APOB	ORPHA:391665
HP:0033678	Acute coronary syndrome	64240	ABCG5	ORPHA:391665
HP:0033678	Acute coronary syndrome	64241	ABCG8	ORPHA:391665
HP:0033678	Acute coronary syndrome	7428	VHL	ORPHA:892
HP:0033678	Acute coronary syndrome	595	CCND1	ORPHA:892
HP:0033678	Acute coronary syndrome	3753	KCNE1	ORPHA:334
HP:0033678	Acute coronary syndrome	2702	GJA5	ORPHA:334
HP:0033678	Acute coronary syndrome	3760	KCNJ3	ORPHA:334
HP:0033678	Acute coronary syndrome	3762	KCNJ5	ORPHA:334
HP:0033678	Acute coronary syndrome	4635	MYL4	ORPHA:334
HP:0033678	Acute coronary syndrome	1482	NKX2-5	ORPHA:334
HP:0033678	Acute coronary syndrome	10060	ABCC9	ORPHA:334
HP:0033678	Acute coronary syndrome	137814	NKX2-6	ORPHA:334
HP:0033678	Acute coronary syndrome	4878	NPPA	ORPHA:334
HP:0033678	Acute coronary syndrome	55800	SCN3B	ORPHA:334
HP:0033678	Acute coronary syndrome	9992	KCNE2	ORPHA:334
HP:0033678	Acute coronary syndrome	2626	GATA4	ORPHA:334
HP:0033678	Acute coronary syndrome	2627	GATA6	ORPHA:334
HP:0033678	Acute coronary syndrome	5308	PITX2	ORPHA:334
HP:0033678	Acute coronary syndrome	6327	SCN2B	ORPHA:334
HP:0033678	Acute coronary syndrome	140628	GATA5	ORPHA:334
HP:0033678	Acute coronary syndrome	3759	KCNJ2	ORPHA:334
HP:0033678	Acute coronary syndrome	3784	KCNQ1	ORPHA:334
HP:0033678	Acute coronary syndrome	6324	SCN1B	ORPHA:334
HP:0033678	Acute coronary syndrome	6331	SCN5A	ORPHA:334
HP:0033678	Acute coronary syndrome	6330	SCN4B	ORPHA:334
HP:0033678	Acute coronary syndrome	3741	KCNA5	ORPHA:334
HP:0033678	Acute coronary syndrome	7273	TTN	ORPHA:334
HP:0033678	Acute coronary syndrome	9631	NUP155	ORPHA:334
HP:0033678	Acute coronary syndrome	84196	USP48	ORPHA:96253
HP:0033678	Acute coronary syndrome	7157	TP53	ORPHA:96253
HP:0033678	Acute coronary syndrome	7157	TP53	ORPHA:3318
HP:0033678	Acute coronary syndrome	9101	USP8	ORPHA:96253
HP:0033678	Acute coronary syndrome	64072	CDH23	ORPHA:96253
HP:0033678	Acute coronary syndrome	2908	NR3C1	ORPHA:96253
HP:0033678	Acute coronary syndrome	546	ATRX	ORPHA:96253
HP:0033678	Acute coronary syndrome	590	BCHE	ORPHA:132
HP:0033678	Acute coronary syndrome	3106	HLA-B	ORPHA:36426
HP:0033678	Acute coronary syndrome	3106	HLA-B	ORPHA:3287
HP:0033678	Acute coronary syndrome	3106	HLA-B	ORPHA:117
HP:0033678	Acute coronary syndrome	10320	IKZF1	ORPHA:36426
HP:0033678	Acute coronary syndrome	2717	GLA	OMIM:301500
HP:0033678	Acute coronary syndrome	9149	DYRK1B	OMIM:615812
HP:0033678	Acute coronary syndrome	875	CBS	OMIM:236200
HP:0033678	Acute coronary syndrome	3593	IL12B	ORPHA:3287
HP:0033678	Acute coronary syndrome	6945	MLX	ORPHA:3287
HP:0033678	Acute coronary syndrome	5277	PIGA	ORPHA:447
HP:0033678	Acute coronary syndrome	3081	HGD	ORPHA:56
HP:0033678	Acute coronary syndrome	4627	MYH9	OMIM:155100
HP:0033678	Acute coronary syndrome	4627	MYH9	ORPHA:182050
HP:0033678	Acute coronary syndrome	5167	ENPP1	OMIM:208000
HP:0033678	Acute coronary syndrome	811	CALR	ORPHA:3318
HP:0033678	Acute coronary syndrome	4352	MPL	ORPHA:3318
HP:0033678	Acute coronary syndrome	54790	TET2	ORPHA:3318
HP:0033678	Acute coronary syndrome	84984	CEP19	OMIM:615703
HP:0033678	Acute coronary syndrome	57187	THOC2	ORPHA:457240
HP:0033678	Acute coronary syndrome	4023	LPL	OMIM:144250
HP:0033678	Acute coronary syndrome	149233	IL23R	ORPHA:117
HP:0033678	Acute coronary syndrome	6775	STAT4	ORPHA:117
HP:0033678	Acute coronary syndrome	3586	IL10	ORPHA:117
HP:0033678	Acute coronary syndrome	1230	CCR1	ORPHA:117
HP:0033678	Acute coronary syndrome	355	FAS	ORPHA:117
HP:0033678	Acute coronary syndrome	3592	IL12A	ORPHA:117
HP:0033678	Acute coronary syndrome	101928376	IL12A-AS1	ORPHA:117
HP:0033678	Acute coronary syndrome	7099	TLR4	ORPHA:117
HP:0033678	Acute coronary syndrome	3459	IFNGR1	ORPHA:117
HP:0033678	Acute coronary syndrome	720	C4A	ORPHA:117
HP:0033678	Acute coronary syndrome	337867	UBAC2	ORPHA:117
HP:0033678	Acute coronary syndrome	51752	ERAP1	ORPHA:117
HP:0033678	Acute coronary syndrome	8302	KLRC4	ORPHA:117
HP:0033678	Acute coronary syndrome	1499	CTNNB1	ORPHA:54595
HP:0007549	Desquamation of skin soon after birth	7051	TGM1	OMIM:242300
HP:0007549	Desquamation of skin soon after birth	2312	FLG	ORPHA:461
HP:0007549	Desquamation of skin soon after birth	412	STS	ORPHA:461
HP:0007549	Desquamation of skin soon after birth	3141	HLCS	ORPHA:79242
HP:0007549	Desquamation of skin soon after birth	6023	RMRP	ORPHA:39041
HP:0007549	Desquamation of skin soon after birth	55636	CHD7	ORPHA:39041
HP:0007549	Desquamation of skin soon after birth	3981	LIG4	ORPHA:39041
HP:0007549	Desquamation of skin soon after birth	5896	RAG1	ORPHA:39041
HP:0007549	Desquamation of skin soon after birth	5897	RAG2	ORPHA:39041
HP:0007549	Desquamation of skin soon after birth	64421	DCLRE1C	ORPHA:39041
HP:0007549	Desquamation of skin soon after birth	100	ADA	ORPHA:39041
HP:0007549	Desquamation of skin soon after birth	3575	IL7R	ORPHA:39041
HP:0007549	Desquamation of skin soon after birth	3561	IL2RG	ORPHA:39041
HP:0007549	Desquamation of skin soon after birth	2629	GBA1	OMIM:608013
HP:0007549	Desquamation of skin soon after birth	10999	SLC27A4	ORPHA:88621
HP:0033680	Pilocytic astrocytoma	4763	NF1	OMIM:162200
HP:0033681	Oligodendroglioma	5728	PTEN	OMIM:613028
HP:0033681	Oligodendroglioma	4292	MLH1	OMIM:276300
HP:0033682	Pleomorphic xanthoastrocytoma	4292	MLH1	OMIM:276300
HP:0033683	Jaw hyperreflexia	51324	SPG21	OMIM:248900
HP:0033683	Jaw hyperreflexia	2643	GCH1	OMIM:128230
HP:0033683	Jaw hyperreflexia	4897	NRCAM	OMIM:619833
HP:0033683	Jaw hyperreflexia	3708	ITPR1	OMIM:117360
HP:0033683	Jaw hyperreflexia	25978	CHMP2B	ORPHA:803
HP:0033683	Jaw hyperreflexia	3178	HNRNPA1	ORPHA:803
HP:0033683	Jaw hyperreflexia	8148	TAF15	ORPHA:803
HP:0033683	Jaw hyperreflexia	5445	PON2	ORPHA:803
HP:0033683	Jaw hyperreflexia	9217	VAPB	ORPHA:803
HP:0033683	Jaw hyperreflexia	8878	SQSTM1	ORPHA:803
HP:0033683	Jaw hyperreflexia	5630	PRPH	ORPHA:803
HP:0033683	Jaw hyperreflexia	29110	TBK1	ORPHA:803
HP:0033683	Jaw hyperreflexia	55830	GLT8D1	ORPHA:803
HP:0033683	Jaw hyperreflexia	755	CFAP410	ORPHA:803
HP:0033683	Jaw hyperreflexia	10891	PPARGC1A	ORPHA:803
HP:0033683	Jaw hyperreflexia	6647	SOD1	ORPHA:803
HP:0033683	Jaw hyperreflexia	10133	OPTN	ORPHA:803
HP:0033683	Jaw hyperreflexia	1639	DCTN1	ORPHA:803
HP:0033683	Jaw hyperreflexia	9896	FIG4	ORPHA:803
HP:0033683	Jaw hyperreflexia	5444	PON1	ORPHA:803
HP:0033683	Jaw hyperreflexia	5446	PON3	ORPHA:803
HP:0033683	Jaw hyperreflexia	4744	NEFH	ORPHA:803
HP:0033683	Jaw hyperreflexia	5216	PFN1	ORPHA:803
HP:0033683	Jaw hyperreflexia	9782	MATR3	ORPHA:803
HP:0033683	Jaw hyperreflexia	54209	TREM2	ORPHA:803
HP:0033683	Jaw hyperreflexia	7415	VCP	ORPHA:803
HP:0033683	Jaw hyperreflexia	283	ANG	ORPHA:803
HP:0033683	Jaw hyperreflexia	23435	TARDBP	ORPHA:803
HP:0033683	Jaw hyperreflexia	29978	UBQLN2	ORPHA:803
HP:0033683	Jaw hyperreflexia	2733	GLE1	ORPHA:803
HP:0033683	Jaw hyperreflexia	2521	FUS	ORPHA:803
HP:0033683	Jaw hyperreflexia	4750	NEK1	ORPHA:803
HP:0033683	Jaw hyperreflexia	6311	ATXN2	ORPHA:803
HP:0033683	Jaw hyperreflexia	1610	DAO	ORPHA:803
HP:0033683	Jaw hyperreflexia	2066	ERBB4	ORPHA:803
HP:0033683	Jaw hyperreflexia	311	ANXA11	ORPHA:803
HP:0033683	Jaw hyperreflexia	23025	UNC13A	ORPHA:803
HP:0033683	Jaw hyperreflexia	899	CCNF	ORPHA:803
HP:0033683	Jaw hyperreflexia	400916	CHCHD10	ORPHA:803
HP:0033683	Jaw hyperreflexia	10558	SPTLC1	OMIM:620285
HP:0033683	Jaw hyperreflexia	9179	AP4M1	OMIM:612936
HP:0033684	Abnormal muscle fiber-type distribution	274	BIN1	ORPHA:169186
HP:0033684	Abnormal muscle fiber-type distribution	274	BIN1	ORPHA:169189
HP:0033684	Abnormal muscle fiber-type distribution	10290	SPEG	ORPHA:169186
HP:0033684	Abnormal muscle fiber-type distribution	6261	RYR1	ORPHA:169186
HP:0033684	Abnormal muscle fiber-type distribution	6261	RYR1	ORPHA:597
HP:0033684	Abnormal muscle fiber-type distribution	6261	RYR1	ORPHA:169189
HP:0033684	Abnormal muscle fiber-type distribution	6261	RYR1	ORPHA:178145
HP:0033684	Abnormal muscle fiber-type distribution	6261	RYR1	OMIM:117000
HP:0033684	Abnormal muscle fiber-type distribution	6261	RYR1	ORPHA:98905
HP:0033684	Abnormal muscle fiber-type distribution	6261	RYR1	ORPHA:424107
HP:0033684	Abnormal muscle fiber-type distribution	6261	RYR1	OMIM:619542
HP:0033684	Abnormal muscle fiber-type distribution	7273	TTN	ORPHA:169186
HP:0033684	Abnormal muscle fiber-type distribution	7273	TTN	ORPHA:178464
HP:0033684	Abnormal muscle fiber-type distribution	1291	COL6A1	OMIM:254090
HP:0033684	Abnormal muscle fiber-type distribution	84665	MYPN	OMIM:617336
HP:0033684	Abnormal muscle fiber-type distribution	84665	MYPN	ORPHA:171439
HP:0033684	Abnormal muscle fiber-type distribution	6606	SMN1	OMIM:271150
HP:0033684	Abnormal muscle fiber-type distribution	8087	FXR1	OMIM:618823
HP:0033684	Abnormal muscle fiber-type distribution	7138	TNNT1	OMIM:620389
HP:0033684	Abnormal muscle fiber-type distribution	7138	TNNT1	ORPHA:98902
HP:0033684	Abnormal muscle fiber-type distribution	7138	TNNT1	OMIM:605355
HP:0033684	Abnormal muscle fiber-type distribution	4703	NEB	OMIM:256030
HP:0033684	Abnormal muscle fiber-type distribution	4703	NEB	ORPHA:171436
HP:0033684	Abnormal muscle fiber-type distribution	4703	NEB	ORPHA:171433
HP:0033684	Abnormal muscle fiber-type distribution	4703	NEB	ORPHA:171430
HP:0033684	Abnormal muscle fiber-type distribution	4703	NEB	ORPHA:171439
HP:0033684	Abnormal muscle fiber-type distribution	58	ACTA1	OMIM:161800
HP:0033684	Abnormal muscle fiber-type distribution	58	ACTA1	ORPHA:171436
HP:0033684	Abnormal muscle fiber-type distribution	58	ACTA1	ORPHA:171433
HP:0033684	Abnormal muscle fiber-type distribution	58	ACTA1	ORPHA:171430
HP:0033684	Abnormal muscle fiber-type distribution	58	ACTA1	OMIM:620278
HP:0033684	Abnormal muscle fiber-type distribution	58	ACTA1	ORPHA:171439
HP:0033684	Abnormal muscle fiber-type distribution	64419	MTMR14	ORPHA:169189
HP:0033684	Abnormal muscle fiber-type distribution	64419	MTMR14	OMIM:160150
HP:0033684	Abnormal muscle fiber-type distribution	4618	MYF6	ORPHA:169189
HP:0033684	Abnormal muscle fiber-type distribution	1785	DNM2	ORPHA:169189
HP:0033684	Abnormal muscle fiber-type distribution	1785	DNM2	OMIM:160150
HP:0033684	Abnormal muscle fiber-type distribution	4625	MYH7	ORPHA:59135
HP:0033684	Abnormal muscle fiber-type distribution	4625	MYH7	OMIM:160500
HP:0033684	Abnormal muscle fiber-type distribution	4625	MYH7	OMIM:255160
HP:0033684	Abnormal muscle fiber-type distribution	4625	MYH7	OMIM:608358
HP:0033684	Abnormal muscle fiber-type distribution	2617	GARS1	OMIM:619042
HP:0033684	Abnormal muscle fiber-type distribution	7169	TPM2	ORPHA:171436
HP:0033684	Abnormal muscle fiber-type distribution	7169	TPM2	OMIM:609285
HP:0033684	Abnormal muscle fiber-type distribution	7169	TPM2	ORPHA:171439
HP:0033684	Abnormal muscle fiber-type distribution	10324	KLHL41	ORPHA:171436
HP:0033684	Abnormal muscle fiber-type distribution	10324	KLHL41	ORPHA:171433
HP:0033684	Abnormal muscle fiber-type distribution	10324	KLHL41	ORPHA:171430
HP:0033684	Abnormal muscle fiber-type distribution	10324	KLHL41	ORPHA:171439
HP:0033684	Abnormal muscle fiber-type distribution	56203	LMOD3	ORPHA:171436
HP:0033684	Abnormal muscle fiber-type distribution	56203	LMOD3	ORPHA:171430
HP:0033684	Abnormal muscle fiber-type distribution	1073	CFL2	ORPHA:171436
HP:0033684	Abnormal muscle fiber-type distribution	1073	CFL2	OMIM:610687
HP:0033684	Abnormal muscle fiber-type distribution	7170	TPM3	ORPHA:171433
HP:0033684	Abnormal muscle fiber-type distribution	7170	TPM3	ORPHA:171439
HP:0033684	Abnormal muscle fiber-type distribution	10585	POMT1	ORPHA:86812
HP:0033684	Abnormal muscle fiber-type distribution	131377	KLHL40	ORPHA:171430
HP:0033684	Abnormal muscle fiber-type distribution	23287	AGTPBP1	OMIM:618276
HP:0033684	Abnormal muscle fiber-type distribution	8292	COLQ	ORPHA:98915
HP:0033684	Abnormal muscle fiber-type distribution	8292	COLQ	OMIM:603034
HP:0033684	Abnormal muscle fiber-type distribution	3913	LAMB2	ORPHA:98915
HP:0033684	Abnormal muscle fiber-type distribution	55033	FKBP14	OMIM:614557
HP:0033684	Abnormal muscle fiber-type distribution	2992	GYG1	OMIM:613507
HP:0033684	Abnormal muscle fiber-type distribution	6263	RYR3	OMIM:620310
HP:0033684	Abnormal muscle fiber-type distribution	6329	SCN4A	ORPHA:98913
HP:0033684	Abnormal muscle fiber-type distribution	1134	CHRNA1	ORPHA:98913
HP:0033684	Abnormal muscle fiber-type distribution	4038	LRP4	ORPHA:98913
HP:0033684	Abnormal muscle fiber-type distribution	4038	LRP4	OMIM:616304
HP:0033684	Abnormal muscle fiber-type distribution	1305	COL13A1	ORPHA:98913
HP:0033684	Abnormal muscle fiber-type distribution	1140	CHRNB1	ORPHA:98913
HP:0033684	Abnormal muscle fiber-type distribution	1140	CHRNB1	OMIM:616313
HP:0033684	Abnormal muscle fiber-type distribution	1144	CHRND	ORPHA:98913
HP:0033684	Abnormal muscle fiber-type distribution	1145	CHRNE	ORPHA:98913
HP:0033684	Abnormal muscle fiber-type distribution	4593	MUSK	ORPHA:98913
HP:0033684	Abnormal muscle fiber-type distribution	5913	RAPSN	ORPHA:98913
HP:0033684	Abnormal muscle fiber-type distribution	375790	AGRN	ORPHA:98913
HP:0033684	Abnormal muscle fiber-type distribution	221264	AK9	ORPHA:98913
HP:0033684	Abnormal muscle fiber-type distribution	285489	DOK7	ORPHA:98913
HP:0033684	Abnormal muscle fiber-type distribution	29925	GMPPB	ORPHA:353327
HP:0033684	Abnormal muscle fiber-type distribution	2673	GFPT1	ORPHA:353327
HP:0033684	Abnormal muscle fiber-type distribution	1798	DPAGT1	ORPHA:353327
HP:0033684	Abnormal muscle fiber-type distribution	85365	ALG2	ORPHA:353327
HP:0033684	Abnormal muscle fiber-type distribution	85365	ALG2	OMIM:616228
HP:0033684	Abnormal muscle fiber-type distribution	199857	ALG14	ORPHA:353327
HP:0033684	Abnormal muscle fiber-type distribution	87178	PNPT1	ORPHA:319514
HP:0033684	Abnormal muscle fiber-type distribution	7125	TNNC2	OMIM:620161
HP:0033684	Abnormal muscle fiber-type distribution	3736	KCNA1	ORPHA:972
HP:0033684	Abnormal muscle fiber-type distribution	57190	SELENON	OMIM:602771
HP:0033684	Abnormal muscle fiber-type distribution	146862	UNC45B	OMIM:619178
HP:0033684	Abnormal muscle fiber-type distribution	859	CAV3	OMIM:614321
HP:0033684	Abnormal muscle fiber-type distribution	390594	KBTBD13	ORPHA:171439
HP:0033684	Abnormal muscle fiber-type distribution	7415	VCP	OMIM:613954
HP:0033684	Abnormal muscle fiber-type distribution	6445	SGCG	OMIM:253700
HP:0033684	Abnormal muscle fiber-type distribution	4151	MB	OMIM:620286
HP:0033684	Abnormal muscle fiber-type distribution	124093	CCDC78	OMIM:614807
HP:0033684	Abnormal muscle fiber-type distribution	8604	SLC25A12	OMIM:612949
HP:0033684	Abnormal muscle fiber-type distribution	4620	MYH2	OMIM:605637
HP:0033684	Abnormal muscle fiber-type distribution	88	ACTN2	OMIM:618654
HP:0033684	Abnormal muscle fiber-type distribution	88	ACTN2	OMIM:618655
HP:0033684	Abnormal muscle fiber-type distribution	51776	MAP3K20	OMIM:617760
HP:0033684	Abnormal muscle fiber-type distribution	132001	TAMM41	OMIM:620139
HP:0033684	Abnormal muscle fiber-type distribution	4632	MYL1	OMIM:618414
HP:0033684	Abnormal muscle fiber-type distribution	3156	HMGCR	OMIM:620375
HP:0033684	Abnormal muscle fiber-type distribution	6786	STIM1	OMIM:160565
HP:0033684	Abnormal muscle fiber-type distribution	54332	GDAP1	OMIM:608340
HP:0033684	Abnormal muscle fiber-type distribution	1185	CLCN6	OMIM:619173
HP:0033684	Abnormal muscle fiber-type distribution	26235	FBXL4	OMIM:615471
HP:0033684	Abnormal muscle fiber-type distribution	84033	OBSCN	OMIM:620235
HP:0033684	Abnormal muscle fiber-type distribution	84274	COQ5	OMIM:619028
HP:0033684	Abnormal muscle fiber-type distribution	5442	POLRMT	OMIM:619743
HP:0033684	Abnormal muscle fiber-type distribution	339855	KY	OMIM:617114
HP:0033684	Abnormal muscle fiber-type distribution	1778	DYNC1H1	OMIM:158600
HP:0033684	Abnormal muscle fiber-type distribution	11117	EMILIN1	OMIM:620080
HP:0033684	Abnormal muscle fiber-type distribution	56652	TWNK	OMIM:607459
HP:0033684	Abnormal muscle fiber-type distribution	56652	TWNK	OMIM:271245
HP:0033684	Abnormal muscle fiber-type distribution	5428	POLG	OMIM:607459
HP:0033684	Abnormal muscle fiber-type distribution	8884	SLC5A6	OMIM:619903
HP:0033684	Abnormal muscle fiber-type distribution	10730	YME1L1	OMIM:617302
HP:0033684	Abnormal muscle fiber-type distribution	311	ANXA11	OMIM:619733
HP:0033684	Abnormal muscle fiber-type distribution	79784	MYH14	OMIM:614369
HP:0033684	Abnormal muscle fiber-type distribution	29967	LRP12	OMIM:620452
HP:0033684	Abnormal muscle fiber-type distribution	10558	SPTLC1	OMIM:620285
HP:0033684	Abnormal muscle fiber-type distribution	65055	REEP1	OMIM:620011
HP:0033685	Fiber type grouping	11117	EMILIN1	OMIM:620080
HP:0033685	Fiber type grouping	56652	TWNK	OMIM:607459
HP:0033685	Fiber type grouping	56652	TWNK	OMIM:271245
HP:0033685	Fiber type grouping	5428	POLG	OMIM:607459
HP:0033685	Fiber type grouping	1291	COL6A1	OMIM:158810
HP:0033685	Fiber type grouping	7169	TPM2	OMIM:609285
HP:0033685	Fiber type grouping	8884	SLC5A6	OMIM:619903
HP:0033685	Fiber type grouping	10730	YME1L1	OMIM:617302
HP:0033685	Fiber type grouping	311	ANXA11	OMIM:619733
HP:0033685	Fiber type grouping	79784	MYH14	OMIM:614369
HP:0033685	Fiber type grouping	29967	LRP12	OMIM:620452
HP:0033685	Fiber type grouping	10558	SPTLC1	OMIM:620285
HP:0033685	Fiber type grouping	65055	REEP1	OMIM:620011
HP:0033685	Fiber type grouping	54332	GDAP1	OMIM:608340
HP:0033686	Mitochondrial hypertrophy	9453	GGPS1	OMIM:619518
HP:0033686	Mitochondrial hypertrophy	1120	CHKB	OMIM:602541
HP:0033687	Short term memory impairment	50484	RRM2B	ORPHA:329336
HP:0033687	Short term memory impairment	246243	RNASEH1	ORPHA:329336
HP:0033687	Short term memory impairment	4137	MAPT	ORPHA:240112
HP:0033687	Short term memory impairment	2934	GSN	ORPHA:85448
HP:0033687	Short term memory impairment	5621	PRNP	ORPHA:466
HP:0033687	Short term memory impairment	7274	TTPA	OMIM:277460
HP:0012850	Small intestinal dysmotility	5428	POLG	ORPHA:298
HP:0012850	Small intestinal dysmotility	1890	TYMP	ORPHA:298
HP:0012850	Small intestinal dysmotility	3980	LIG3	ORPHA:298
HP:0012850	Small intestinal dysmotility	50484	RRM2B	ORPHA:298
HP:0012850	Small intestinal dysmotility	283446	MYO1H	OMIM:619482
HP:0012850	Small intestinal dysmotility	1371	CPOX	ORPHA:79273
HP:0025130	Decreased small intestinal mucosa lactase level	3938	LCT	OMIM:223000
HP:0025130	Decreased small intestinal mucosa lactase level	4175	MCM6	OMIM:223100
HP:0025131	Finger swelling	6399	TRAPPC2	ORPHA:93284
HP:0025131	Finger swelling	5696	PSMB8	OMIM:256040
HP:0025131	Finger swelling	5692	PSMB4	OMIM:617591
HP:0025131	Finger swelling	4952	OCRL	OMIM:309000
HP:0025131	Finger swelling	4313	MMP2	OMIM:259600
HP:0025132	Abnormal circulating estrogen level	254394	MCM9	OMIM:616185
HP:0025132	Abnormal circulating estrogen level	402381	SOHLH1	OMIM:617690
HP:0025132	Abnormal circulating estrogen level	79625	NDNF	OMIM:618841
HP:0025132	Abnormal circulating estrogen level	2100	ESR2	OMIM:618187
HP:0025132	Abnormal circulating estrogen level	2796	GNRH1	OMIM:614841
HP:0025132	Abnormal circulating estrogen level	3814	KISS1	OMIM:614842
HP:0025132	Abnormal circulating estrogen level	8314	BAP1	ORPHA:2495
HP:0025132	Abnormal circulating estrogen level	4771	NF2	ORPHA:2495
HP:0025132	Abnormal circulating estrogen level	6598	SMARCB1	ORPHA:2495
HP:0025132	Abnormal circulating estrogen level	5155	PDGFB	ORPHA:2495
HP:0025132	Abnormal circulating estrogen level	84231	TRAF7	ORPHA:2495
HP:0025132	Abnormal circulating estrogen level	6608	SMO	ORPHA:2495
HP:0025132	Abnormal circulating estrogen level	207	AKT1	ORPHA:2495
HP:0025132	Abnormal circulating estrogen level	5290	PIK3CA	ORPHA:2495
HP:0025132	Abnormal circulating estrogen level	7015	TERT	ORPHA:2495
HP:0025132	Abnormal circulating estrogen level	51684	SUFU	ORPHA:2495
HP:0025132	Abnormal circulating estrogen level	6605	SMARCE1	ORPHA:2495
HP:0025132	Abnormal circulating estrogen level	646	BNC1	OMIM:618723
HP:0025132	Abnormal circulating estrogen level	646	BNC1	ORPHA:243
HP:0025132	Abnormal circulating estrogen level	125150	ZSWIM7	OMIM:619834
HP:0025132	Abnormal circulating estrogen level	125150	ZSWIM7	ORPHA:243
HP:0025132	Abnormal circulating estrogen level	221711	SYCP2L	OMIM:620840
HP:0025132	Abnormal circulating estrogen level	7490	WT1	ORPHA:347
HP:0025132	Abnormal circulating estrogen level	7490	WT1	ORPHA:251510
HP:0025132	Abnormal circulating estrogen level	5447	POR	ORPHA:95699
HP:0025132	Abnormal circulating estrogen level	29893	PSMC3IP	ORPHA:243
HP:0025132	Abnormal circulating estrogen level	171568	POLR3H	ORPHA:243
HP:0025132	Abnormal circulating estrogen level	2516	NR5A1	ORPHA:243
HP:0025132	Abnormal circulating estrogen level	2516	NR5A1	ORPHA:251510
HP:0025132	Abnormal circulating estrogen level	9210	BMP15	ORPHA:243
HP:0025132	Abnormal circulating estrogen level	57122	NUP107	ORPHA:243
HP:0025132	Abnormal circulating estrogen level	23514	SPIDR	ORPHA:243
HP:0025132	Abnormal circulating estrogen level	23514	SPIDR	OMIM:619665
HP:0025132	Abnormal circulating estrogen level	2492	FSHR	ORPHA:243
HP:0025132	Abnormal circulating estrogen level	56945	MRPS22	ORPHA:243
HP:0025132	Abnormal circulating estrogen level	56945	MRPS22	OMIM:618117
HP:0025132	Abnormal circulating estrogen level	4438	MSH4	ORPHA:243
HP:0025132	Abnormal circulating estrogen level	9150	CTDP1	OMIM:604168
HP:0025132	Abnormal circulating estrogen level	7516	XRCC2	OMIM:619146
HP:0025132	Abnormal circulating estrogen level	2488	FSHB	ORPHA:52901
HP:0025132	Abnormal circulating estrogen level	2661	GDF9	OMIM:618014
HP:0025132	Abnormal circulating estrogen level	389549	FEZF1	OMIM:616030
HP:0025132	Abnormal circulating estrogen level	1528	CYB5A	ORPHA:90796
HP:0025132	Abnormal circulating estrogen level	1586	CYP17A1	ORPHA:90796
HP:0025132	Abnormal circulating estrogen level	23395	LARS2	OMIM:615300
HP:0025132	Abnormal circulating estrogen level	3953	LEPR	ORPHA:179494
HP:0025132	Abnormal circulating estrogen level	6662	SOX9	ORPHA:251510
HP:0025132	Abnormal circulating estrogen level	6845	VAMP7	ORPHA:251510
HP:0025132	Abnormal circulating estrogen level	51741	WWOX	ORPHA:251510
HP:0025132	Abnormal circulating estrogen level	4214	MAP3K1	ORPHA:251510
HP:0025132	Abnormal circulating estrogen level	57647	DHX37	ORPHA:251510
HP:0025132	Abnormal circulating estrogen level	6736	SRY	ORPHA:251510
HP:0025132	Abnormal circulating estrogen level	23414	ZFPM2	ORPHA:251510
HP:0025132	Abnormal circulating estrogen level	190	NR0B1	ORPHA:251510
HP:0025132	Abnormal circulating estrogen level	2626	GATA4	ORPHA:251510
HP:0025132	Abnormal circulating estrogen level	3952	LEP	ORPHA:66628
HP:0025132	Abnormal circulating estrogen level	10371	SEMA3A	OMIM:614897
HP:0025132	Abnormal circulating estrogen level	10734	STAG3	OMIM:615723
HP:0025132	Abnormal circulating estrogen level	78995	HROB	OMIM:620897
HP:0025132	Abnormal circulating estrogen level	8626	TP63	OMIM:620311
HP:0025132	Abnormal circulating estrogen level	668	FOXL2	ORPHA:572333
HP:0025132	Abnormal circulating estrogen level	50846	DHH	ORPHA:168563
HP:0025132	Abnormal circulating estrogen level	367	AR	ORPHA:90797
HP:0025132	Abnormal circulating estrogen level	54766	BTG4	OMIM:619009
HP:0025132	Abnormal circulating estrogen level	11128	POLR3A	ORPHA:3455
HP:0025132	Abnormal circulating estrogen level	2099	ESR1	OMIM:615363
HP:0025132	Abnormal circulating estrogen level	84133	ZNRF3	ORPHA:1501
HP:0025132	Abnormal circulating estrogen level	7157	TP53	ORPHA:1501
HP:0025132	Abnormal circulating estrogen level	5573	PRKAR1A	ORPHA:1501
HP:0025132	Abnormal circulating estrogen level	1499	CTNNB1	ORPHA:1501
HP:0025132	Abnormal circulating estrogen level	1029	CDKN2A	ORPHA:1501
HP:0025133	Abnormal serum estradiol	254394	MCM9	OMIM:616185
HP:0025133	Abnormal serum estradiol	402381	SOHLH1	OMIM:617690
HP:0025133	Abnormal serum estradiol	79625	NDNF	OMIM:618841
HP:0025133	Abnormal serum estradiol	2100	ESR2	OMIM:618187
HP:0025133	Abnormal serum estradiol	2796	GNRH1	OMIM:614841
HP:0025133	Abnormal serum estradiol	3814	KISS1	OMIM:614842
HP:0025133	Abnormal serum estradiol	8314	BAP1	ORPHA:2495
HP:0025133	Abnormal serum estradiol	4771	NF2	ORPHA:2495
HP:0025133	Abnormal serum estradiol	6598	SMARCB1	ORPHA:2495
HP:0025133	Abnormal serum estradiol	5155	PDGFB	ORPHA:2495
HP:0025133	Abnormal serum estradiol	84231	TRAF7	ORPHA:2495
HP:0025133	Abnormal serum estradiol	6608	SMO	ORPHA:2495
HP:0025133	Abnormal serum estradiol	207	AKT1	ORPHA:2495
HP:0025133	Abnormal serum estradiol	5290	PIK3CA	ORPHA:2495
HP:0025133	Abnormal serum estradiol	7015	TERT	ORPHA:2495
HP:0025133	Abnormal serum estradiol	51684	SUFU	ORPHA:2495
HP:0025133	Abnormal serum estradiol	6605	SMARCE1	ORPHA:2495
HP:0025133	Abnormal serum estradiol	646	BNC1	OMIM:618723
HP:0025133	Abnormal serum estradiol	646	BNC1	ORPHA:243
HP:0025133	Abnormal serum estradiol	125150	ZSWIM7	OMIM:619834
HP:0025133	Abnormal serum estradiol	125150	ZSWIM7	ORPHA:243
HP:0025133	Abnormal serum estradiol	221711	SYCP2L	OMIM:620840
HP:0025133	Abnormal serum estradiol	7490	WT1	ORPHA:347
HP:0025133	Abnormal serum estradiol	7490	WT1	ORPHA:251510
HP:0025133	Abnormal serum estradiol	5447	POR	ORPHA:95699
HP:0025133	Abnormal serum estradiol	29893	PSMC3IP	ORPHA:243
HP:0025133	Abnormal serum estradiol	171568	POLR3H	ORPHA:243
HP:0025133	Abnormal serum estradiol	2516	NR5A1	ORPHA:243
HP:0025133	Abnormal serum estradiol	2516	NR5A1	ORPHA:251510
HP:0025133	Abnormal serum estradiol	9210	BMP15	ORPHA:243
HP:0025133	Abnormal serum estradiol	57122	NUP107	ORPHA:243
HP:0025133	Abnormal serum estradiol	23514	SPIDR	ORPHA:243
HP:0025133	Abnormal serum estradiol	23514	SPIDR	OMIM:619665
HP:0025133	Abnormal serum estradiol	2492	FSHR	ORPHA:243
HP:0025133	Abnormal serum estradiol	56945	MRPS22	ORPHA:243
HP:0025133	Abnormal serum estradiol	56945	MRPS22	OMIM:618117
HP:0025133	Abnormal serum estradiol	4438	MSH4	ORPHA:243
HP:0025133	Abnormal serum estradiol	9150	CTDP1	OMIM:604168
HP:0025133	Abnormal serum estradiol	7516	XRCC2	OMIM:619146
HP:0025133	Abnormal serum estradiol	2488	FSHB	ORPHA:52901
HP:0025133	Abnormal serum estradiol	2661	GDF9	OMIM:618014
HP:0025133	Abnormal serum estradiol	389549	FEZF1	OMIM:616030
HP:0025133	Abnormal serum estradiol	1528	CYB5A	ORPHA:90796
HP:0025133	Abnormal serum estradiol	1586	CYP17A1	ORPHA:90796
HP:0025133	Abnormal serum estradiol	23395	LARS2	OMIM:615300
HP:0025133	Abnormal serum estradiol	3953	LEPR	ORPHA:179494
HP:0025133	Abnormal serum estradiol	6662	SOX9	ORPHA:251510
HP:0025133	Abnormal serum estradiol	6845	VAMP7	ORPHA:251510
HP:0025133	Abnormal serum estradiol	51741	WWOX	ORPHA:251510
HP:0025133	Abnormal serum estradiol	4214	MAP3K1	ORPHA:251510
HP:0025133	Abnormal serum estradiol	57647	DHX37	ORPHA:251510
HP:0025133	Abnormal serum estradiol	6736	SRY	ORPHA:251510
HP:0025133	Abnormal serum estradiol	23414	ZFPM2	ORPHA:251510
HP:0025133	Abnormal serum estradiol	190	NR0B1	ORPHA:251510
HP:0025133	Abnormal serum estradiol	2626	GATA4	ORPHA:251510
HP:0025133	Abnormal serum estradiol	3952	LEP	ORPHA:66628
HP:0025133	Abnormal serum estradiol	10371	SEMA3A	OMIM:614897
HP:0025133	Abnormal serum estradiol	10734	STAG3	OMIM:615723
HP:0025133	Abnormal serum estradiol	78995	HROB	OMIM:620897
HP:0025133	Abnormal serum estradiol	8626	TP63	OMIM:620311
HP:0025133	Abnormal serum estradiol	668	FOXL2	ORPHA:572333
HP:0025133	Abnormal serum estradiol	50846	DHH	ORPHA:168563
HP:0025133	Abnormal serum estradiol	367	AR	ORPHA:90797
HP:0025133	Abnormal serum estradiol	367	AR	ORPHA:99429
HP:0025133	Abnormal serum estradiol	11128	POLR3A	ORPHA:3455
HP:0025133	Abnormal serum estradiol	2099	ESR1	OMIM:615363
HP:0025133	Abnormal serum estradiol	84133	ZNRF3	ORPHA:1501
HP:0025133	Abnormal serum estradiol	7157	TP53	ORPHA:1501
HP:0025133	Abnormal serum estradiol	5573	PRKAR1A	ORPHA:1501
HP:0025133	Abnormal serum estradiol	1499	CTNNB1	ORPHA:1501
HP:0025133	Abnormal serum estradiol	1029	CDKN2A	ORPHA:1501
HP:0025134	Increased serum estradiol	367	AR	ORPHA:90797
HP:0025134	Increased serum estradiol	367	AR	ORPHA:99429
HP:0025134	Increased serum estradiol	11128	POLR3A	ORPHA:3455
HP:0025134	Increased serum estradiol	2099	ESR1	OMIM:615363
HP:0025134	Increased serum estradiol	84133	ZNRF3	ORPHA:1501
HP:0025134	Increased serum estradiol	7157	TP53	ORPHA:1501
HP:0025134	Increased serum estradiol	5573	PRKAR1A	ORPHA:1501
HP:0025134	Increased serum estradiol	1499	CTNNB1	ORPHA:1501
HP:0025134	Increased serum estradiol	1029	CDKN2A	ORPHA:1501
HP:0025134	Increased serum estradiol	7015	TERT	ORPHA:1501
HP:0012855	Scrotal hyperpigmentation	56983	POGLUT1	ORPHA:79145
HP:0012855	Scrotal hyperpigmentation	3852	KRT5	ORPHA:79145
HP:0012855	Scrotal hyperpigmentation	23509	POFUT1	ORPHA:79145
HP:0012855	Scrotal hyperpigmentation	55851	PSENEN	ORPHA:79145
HP:0012856	Abnormal scrotal rugation	6662	SOX9	ORPHA:2138
HP:0012856	Abnormal scrotal rugation	2516	NR5A1	ORPHA:2138
HP:0012856	Abnormal scrotal rugation	6736	SRY	ORPHA:2138
HP:0012856	Abnormal scrotal rugation	114034	TOE1	ORPHA:284339
HP:0012856	Abnormal scrotal rugation	9562	MINPP1	ORPHA:284339
HP:0012852	Hepatic bridging fibrosis	7289	TULP3	OMIM:619902
HP:0012852	Hepatic bridging fibrosis	3988	LIPA	OMIM:278000
HP:0012852	Hepatic bridging fibrosis	54532	USP53	OMIM:619658
HP:0012852	Hepatic bridging fibrosis	57410	SCYL1	OMIM:616719
HP:0012852	Hepatic bridging fibrosis	9420	CYP7B1	OMIM:613812
HP:0012852	Hepatic bridging fibrosis	60561	RINT1	OMIM:618641
HP:0012852	Hepatic bridging fibrosis	51473	DCDC2	OMIM:617394
HP:0012852	Hepatic bridging fibrosis	8772	FADD	OMIM:613759
HP:0012852	Hepatic bridging fibrosis	537	ATP6AP1	OMIM:300972
HP:0012852	Hepatic bridging fibrosis	113220	KIF12	OMIM:619662
HP:0012853	Scrotal hypospadias	3284	HSD3B2	OMIM:201810
HP:0012853	Scrotal hypospadias	1528	CYB5A	OMIM:250790
HP:0012854	Midshaft hypospadias	1583	CYP11A1	ORPHA:289548
HP:0012854	Midshaft hypospadias	1583	CYP11A1	ORPHA:168558
HP:0007550	Hypohidrosis or hyperhidrosis	1497	CTNS	OMIM:219800
HP:0007550	Hypohidrosis or hyperhidrosis	54084	TSPEAR	OMIM:618180
HP:0007550	Hypohidrosis or hyperhidrosis	60529	ALX4	OMIM:613451
HP:0007550	Hypohidrosis or hyperhidrosis	54101	RIPK4	ORPHA:1401
HP:0007550	Hypohidrosis or hyperhidrosis	8518	ELP1	ORPHA:1764
HP:0007550	Hypohidrosis or hyperhidrosis	85446	ZFHX2	OMIM:147430
HP:0007550	Hypohidrosis or hyperhidrosis	128178	EDARADD	OMIM:614940
HP:0007550	Hypohidrosis or hyperhidrosis	128178	EDARADD	OMIM:129490
HP:0007550	Hypohidrosis or hyperhidrosis	128178	EDARADD	OMIM:224900
HP:0007550	Hypohidrosis or hyperhidrosis	128178	EDARADD	ORPHA:248
HP:0007550	Hypohidrosis or hyperhidrosis	128178	EDARADD	ORPHA:1810
HP:0007550	Hypohidrosis or hyperhidrosis	29926	GMPPA	OMIM:615510
HP:0007550	Hypohidrosis or hyperhidrosis	8573	CASK	OMIM:300749
HP:0007550	Hypohidrosis or hyperhidrosis	85358	SHANK3	OMIM:606232
HP:0007550	Hypohidrosis or hyperhidrosis	27235	COQ2	OMIM:146500
HP:0007550	Hypohidrosis or hyperhidrosis	1161	ERCC8	ORPHA:90321
HP:0007550	Hypohidrosis or hyperhidrosis	2072	ERCC4	ORPHA:90321
HP:0007550	Hypohidrosis or hyperhidrosis	2074	ERCC6	ORPHA:90321
HP:0007550	Hypohidrosis or hyperhidrosis	57511	COG6	ORPHA:363523
HP:0007550	Hypohidrosis or hyperhidrosis	57511	COG6	OMIM:614576
HP:0007550	Hypohidrosis or hyperhidrosis	57511	COG6	OMIM:615328
HP:0007550	Hypohidrosis or hyperhidrosis	3074	HEXB	OMIM:268800
HP:0007550	Hypohidrosis or hyperhidrosis	113179	ADAT3	ORPHA:363528
HP:0007550	Hypohidrosis or hyperhidrosis	6335	SCN9A	OMIM:243000
HP:0007550	Hypohidrosis or hyperhidrosis	7051	TGM1	ORPHA:100976
HP:0007550	Hypohidrosis or hyperhidrosis	7051	TGM1	ORPHA:79394
HP:0007550	Hypohidrosis or hyperhidrosis	4792	NFKBIA	OMIM:612132
HP:0007550	Hypohidrosis or hyperhidrosis	4792	NFKBIA	ORPHA:98813
HP:0007550	Hypohidrosis or hyperhidrosis	5818	NECTIN1	ORPHA:3253
HP:0007550	Hypohidrosis or hyperhidrosis	170302	ARX	ORPHA:452
HP:0007550	Hypohidrosis or hyperhidrosis	1896	EDA	OMIM:305100
HP:0007550	Hypohidrosis or hyperhidrosis	1896	EDA	ORPHA:181
HP:0007550	Hypohidrosis or hyperhidrosis	9071	CLDN10	OMIM:617671
HP:0007550	Hypohidrosis or hyperhidrosis	51360	MBTPS2	ORPHA:2273
HP:0007550	Hypohidrosis or hyperhidrosis	51360	MBTPS2	OMIM:308205
HP:0007550	Hypohidrosis or hyperhidrosis	284252	KCTD1	ORPHA:2036
HP:0007550	Hypohidrosis or hyperhidrosis	284252	KCTD1	OMIM:181270
HP:0007550	Hypohidrosis or hyperhidrosis	6786	STIM1	OMIM:612783
HP:0007550	Hypohidrosis or hyperhidrosis	6663	SOX10	ORPHA:163746
HP:0007550	Hypohidrosis or hyperhidrosis	6663	SOX10	OMIM:609136
HP:0007550	Hypohidrosis or hyperhidrosis	412	STS	ORPHA:281090
HP:0007550	Hypohidrosis or hyperhidrosis	412	STS	OMIM:308100
HP:0007550	Hypohidrosis or hyperhidrosis	412	STS	ORPHA:461
HP:0007550	Hypohidrosis or hyperhidrosis	9325	TRIP4	OMIM:616866
HP:0007550	Hypohidrosis or hyperhidrosis	80326	WNT10A	OMIM:257980
HP:0007550	Hypohidrosis or hyperhidrosis	80326	WNT10A	OMIM:150400
HP:0007550	Hypohidrosis or hyperhidrosis	80326	WNT10A	ORPHA:248
HP:0007550	Hypohidrosis or hyperhidrosis	2717	GLA	ORPHA:324
HP:0007550	Hypohidrosis or hyperhidrosis	2717	GLA	OMIM:301500
HP:0007550	Hypohidrosis or hyperhidrosis	6768	ST14	OMIM:602400
HP:0007550	Hypohidrosis or hyperhidrosis	1301	COL11A1	ORPHA:560
HP:0007550	Hypohidrosis or hyperhidrosis	204219	CERS3	OMIM:615023
HP:0007550	Hypohidrosis or hyperhidrosis	204219	CERS3	ORPHA:79394
HP:0007550	Hypohidrosis or hyperhidrosis	1474	CST6	OMIM:618535
HP:0007550	Hypohidrosis or hyperhidrosis	374393	FAM111B	OMIM:615704
HP:0007550	Hypohidrosis or hyperhidrosis	8517	IKBKG	ORPHA:98813
HP:0007550	Hypohidrosis or hyperhidrosis	59344	ALOXE3	OMIM:242100
HP:0007550	Hypohidrosis or hyperhidrosis	59344	ALOXE3	OMIM:606545
HP:0007550	Hypohidrosis or hyperhidrosis	59344	ALOXE3	ORPHA:79394
HP:0007550	Hypohidrosis or hyperhidrosis	242	ALOX12B	OMIM:242100
HP:0007550	Hypohidrosis or hyperhidrosis	242	ALOX12B	ORPHA:79394
HP:0007550	Hypohidrosis or hyperhidrosis	10804	GJB6	ORPHA:477
HP:0007550	Hypohidrosis or hyperhidrosis	2706	GJB2	ORPHA:477
HP:0007550	Hypohidrosis or hyperhidrosis	2706	GJB2	OMIM:148210
HP:0007550	Hypohidrosis or hyperhidrosis	348938	NIPAL4	OMIM:612281
HP:0007550	Hypohidrosis or hyperhidrosis	348938	NIPAL4	ORPHA:79394
HP:0007550	Hypohidrosis or hyperhidrosis	126695	KDF1	OMIM:617337
HP:0007550	Hypohidrosis or hyperhidrosis	126695	KDF1	ORPHA:1810
HP:0007550	Hypohidrosis or hyperhidrosis	59335	PRDM12	OMIM:616488
HP:0007550	Hypohidrosis or hyperhidrosis	8626	TP63	OMIM:129400
HP:0007550	Hypohidrosis or hyperhidrosis	8626	TP63	OMIM:603543
HP:0007550	Hypohidrosis or hyperhidrosis	8626	TP63	ORPHA:69085
HP:0007550	Hypohidrosis or hyperhidrosis	8626	TP63	ORPHA:1896
HP:0007550	Hypohidrosis or hyperhidrosis	10913	EDAR	OMIM:129490
HP:0007550	Hypohidrosis or hyperhidrosis	10913	EDAR	OMIM:224900
HP:0007550	Hypohidrosis or hyperhidrosis	10913	EDAR	ORPHA:248
HP:0007550	Hypohidrosis or hyperhidrosis	10913	EDAR	ORPHA:1810
HP:0007550	Hypohidrosis or hyperhidrosis	3861	KRT14	OMIM:161000
HP:0007550	Hypohidrosis or hyperhidrosis	3861	KRT14	ORPHA:69087
HP:0007550	Hypohidrosis or hyperhidrosis	3861	KRT14	OMIM:125595
HP:0007550	Hypohidrosis or hyperhidrosis	2312	FLG	ORPHA:461
HP:0007550	Hypohidrosis or hyperhidrosis	60401	EDA2R	ORPHA:181
HP:0007550	Hypohidrosis or hyperhidrosis	8567	MADD	OMIM:619004
HP:0007550	Hypohidrosis or hyperhidrosis	6785	ELOVL4	ORPHA:1955
HP:0007550	Hypohidrosis or hyperhidrosis	5422	POLA1	OMIM:301220
HP:0007550	Hypohidrosis or hyperhidrosis	5317	PKP1	ORPHA:158668
HP:0007550	Hypohidrosis or hyperhidrosis	3977	LIFR	ORPHA:3206
HP:0007550	Hypohidrosis or hyperhidrosis	284111	SLC13A5	ORPHA:1946
HP:0007550	Hypohidrosis or hyperhidrosis	79641	ROGDI	ORPHA:1946
HP:0007550	Hypohidrosis or hyperhidrosis	1476	CSTB	ORPHA:248
HP:0007550	Hypohidrosis or hyperhidrosis	23529	CLCF1	ORPHA:1545
HP:0007550	Hypohidrosis or hyperhidrosis	9244	CRLF1	ORPHA:1545
HP:0007550	Hypohidrosis or hyperhidrosis	6820	SULT2B1	ORPHA:79394
HP:0007550	Hypohidrosis or hyperhidrosis	26154	ABCA12	ORPHA:79394
HP:0007550	Hypohidrosis or hyperhidrosis	285848	PNPLA1	ORPHA:79394
HP:0007550	Hypohidrosis or hyperhidrosis	121214	SDR9C7	ORPHA:79394
HP:0007550	Hypohidrosis or hyperhidrosis	2260	FGFR1	ORPHA:3157
HP:0007550	Hypohidrosis or hyperhidrosis	128674	PROKR2	ORPHA:3157
HP:0007550	Hypohidrosis or hyperhidrosis	6657	SOX2	ORPHA:3157
HP:0007550	Hypohidrosis or hyperhidrosis	6658	SOX3	ORPHA:3157
HP:0007550	Hypohidrosis or hyperhidrosis	9915	ARNT2	ORPHA:3157
HP:0007550	Hypohidrosis or hyperhidrosis	8820	HESX1	ORPHA:3157
HP:0007550	Hypohidrosis or hyperhidrosis	5015	OTX2	ORPHA:3157
HP:0007550	Hypohidrosis or hyperhidrosis	2690	GHR	ORPHA:633
HP:0007550	Hypohidrosis or hyperhidrosis	56916	SMARCAD1	ORPHA:1658
HP:0007550	Hypohidrosis or hyperhidrosis	7189	TRAF6	ORPHA:1810
HP:0007550	Hypohidrosis or hyperhidrosis	26191	PTPN22	ORPHA:397
HP:0007550	Hypohidrosis or hyperhidrosis	3106	HLA-B	ORPHA:397
HP:0007550	Hypohidrosis or hyperhidrosis	3123	HLA-DRB1	ORPHA:397
HP:0007550	Hypohidrosis or hyperhidrosis	3123	HLA-DRB1	ORPHA:2073
HP:0007550	Hypohidrosis or hyperhidrosis	8974	P4HA2	ORPHA:397
HP:0007550	Hypohidrosis or hyperhidrosis	4352	MPL	ORPHA:71493
HP:0007550	Hypohidrosis or hyperhidrosis	7066	THPO	ORPHA:71493
HP:0007550	Hypohidrosis or hyperhidrosis	3717	JAK2	ORPHA:71493
HP:0007550	Hypohidrosis or hyperhidrosis	23769	FLRT1	ORPHA:320406
HP:0007550	Hypohidrosis or hyperhidrosis	64837	KLC2	ORPHA:320406
HP:0007550	Hypohidrosis or hyperhidrosis	64837	KLC2	OMIM:609541
HP:0007550	Hypohidrosis or hyperhidrosis	1291	COL6A1	OMIM:254090
HP:0007550	Hypohidrosis or hyperhidrosis	3094	HINT1	ORPHA:324442
HP:0007550	Hypohidrosis or hyperhidrosis	3094	HINT1	OMIM:137200
HP:0007550	Hypohidrosis or hyperhidrosis	6390	SDHB	OMIM:115310
HP:0007550	Hypohidrosis or hyperhidrosis	23516	SLC39A14	OMIM:617013
HP:0007550	Hypohidrosis or hyperhidrosis	55654	TMEM127	OMIM:171300
HP:0007550	Hypohidrosis or hyperhidrosis	4149	MAX	OMIM:171300
HP:0007550	Hypohidrosis or hyperhidrosis	5979	RET	OMIM:171300
HP:0007550	Hypohidrosis or hyperhidrosis	7428	VHL	OMIM:171300
HP:0007550	Hypohidrosis or hyperhidrosis	7428	VHL	ORPHA:892
HP:0007550	Hypohidrosis or hyperhidrosis	673	BRAF	OMIM:115150
HP:0007550	Hypohidrosis or hyperhidrosis	673	BRAF	OMIM:613706
HP:0007550	Hypohidrosis or hyperhidrosis	1736	DKC1	OMIM:305000
HP:0007550	Hypohidrosis or hyperhidrosis	1736	DKC1	ORPHA:1775
HP:0007550	Hypohidrosis or hyperhidrosis	9881	TRANK1	ORPHA:33543
HP:0007550	Hypohidrosis or hyperhidrosis	6571	SLC18A2	ORPHA:352649
HP:0007550	Hypohidrosis or hyperhidrosis	6571	SLC18A2	OMIM:618049
HP:0007550	Hypohidrosis or hyperhidrosis	362	AQP5	ORPHA:2337
HP:0007550	Hypohidrosis or hyperhidrosis	3190	HNRNPK	ORPHA:453504
HP:0007550	Hypohidrosis or hyperhidrosis	3190	HNRNPK	ORPHA:352665
HP:0007550	Hypohidrosis or hyperhidrosis	1308	COL17A1	ORPHA:79406
HP:0007550	Hypohidrosis or hyperhidrosis	3481	IGF2	ORPHA:231140
HP:0007550	Hypohidrosis or hyperhidrosis	283120	H19	ORPHA:231140
HP:0007550	Hypohidrosis or hyperhidrosis	3728	JUP	ORPHA:34217
HP:0007550	Hypohidrosis or hyperhidrosis	1644	DDC	ORPHA:35708
HP:0007550	Hypohidrosis or hyperhidrosis	1644	DDC	OMIM:608643
HP:0007550	Hypohidrosis or hyperhidrosis	3248	HPGD	ORPHA:217059
HP:0007550	Hypohidrosis or hyperhidrosis	3248	HPGD	ORPHA:2796
HP:0007550	Hypohidrosis or hyperhidrosis	3248	HPGD	OMIM:259100
HP:0007550	Hypohidrosis or hyperhidrosis	3736	KCNA1	ORPHA:37612
HP:0007550	Hypohidrosis or hyperhidrosis	3508	IGHMBP2	OMIM:604320
HP:0007550	Hypohidrosis or hyperhidrosis	6391	SDHC	OMIM:605373
HP:0007550	Hypohidrosis or hyperhidrosis	65125	WNK1	ORPHA:970
HP:0007550	Hypohidrosis or hyperhidrosis	54463	RETREG1	ORPHA:970
HP:0007550	Hypohidrosis or hyperhidrosis	547	KIF1A	ORPHA:970
HP:0007550	Hypohidrosis or hyperhidrosis	1185	CLCN6	OMIM:619173
HP:0007550	Hypohidrosis or hyperhidrosis	2263	FGFR2	ORPHA:87
HP:0007550	Hypohidrosis or hyperhidrosis	2263	FGFR2	OMIM:101200
HP:0007550	Hypohidrosis or hyperhidrosis	9630	GNA14	ORPHA:1063
HP:0007550	Hypohidrosis or hyperhidrosis	8929	PHOX2B	ORPHA:2151
HP:0007550	Hypohidrosis or hyperhidrosis	8929	PHOX2B	OMIM:209880
HP:0007550	Hypohidrosis or hyperhidrosis	114548	NLRP3	ORPHA:47045
HP:0007550	Hypohidrosis or hyperhidrosis	6578	SLCO2A1	OMIM:614441
HP:0007550	Hypohidrosis or hyperhidrosis	6578	SLCO2A1	ORPHA:2796
HP:0007550	Hypohidrosis or hyperhidrosis	6578	SLCO2A1	OMIM:167100
HP:0007550	Hypohidrosis or hyperhidrosis	80204	FBXO11	OMIM:618089
HP:0007550	Hypohidrosis or hyperhidrosis	7555	CNBP	ORPHA:606
HP:0007550	Hypohidrosis or hyperhidrosis	83550	GPR101	ORPHA:963
HP:0007550	Hypohidrosis or hyperhidrosis	83550	GPR101	OMIM:300942
HP:0007550	Hypohidrosis or hyperhidrosis	9049	AIP	ORPHA:963
HP:0007550	Hypohidrosis or hyperhidrosis	9049	AIP	ORPHA:99725
HP:0007550	Hypohidrosis or hyperhidrosis	3852	KRT5	ORPHA:79400
HP:0007550	Hypohidrosis or hyperhidrosis	5621	PRNP	OMIM:600072
HP:0007550	Hypohidrosis or hyperhidrosis	5621	PRNP	ORPHA:466
HP:0007550	Hypohidrosis or hyperhidrosis	1828	DSG1	OMIM:148700
HP:0007550	Hypohidrosis or hyperhidrosis	84133	ZNRF3	ORPHA:1501
HP:0007550	Hypohidrosis or hyperhidrosis	7157	TP53	ORPHA:1501
HP:0007550	Hypohidrosis or hyperhidrosis	5573	PRKAR1A	ORPHA:1501
HP:0007550	Hypohidrosis or hyperhidrosis	1499	CTNNB1	ORPHA:1501
HP:0007550	Hypohidrosis or hyperhidrosis	1029	CDKN2A	ORPHA:1501
HP:0007550	Hypohidrosis or hyperhidrosis	7015	TERT	ORPHA:1501
HP:0007550	Hypohidrosis or hyperhidrosis	7015	TERT	ORPHA:1775
HP:0007550	Hypohidrosis or hyperhidrosis	6898	TAT	ORPHA:28378
HP:0007550	Hypohidrosis or hyperhidrosis	8802	SUCLG1	OMIM:245400
HP:0007550	Hypohidrosis or hyperhidrosis	8802	SUCLG1	ORPHA:17
HP:0007550	Hypohidrosis or hyperhidrosis	3172	HNF4A	ORPHA:263455
HP:0007550	Hypohidrosis or hyperhidrosis	1508	CTSB	ORPHA:50943
HP:0007550	Hypohidrosis or hyperhidrosis	64072	CDH23	ORPHA:91347
HP:0007550	Hypohidrosis or hyperhidrosis	388962	BOLA3	OMIM:614299
HP:0007550	Hypohidrosis or hyperhidrosis	11280	SCN11A	OMIM:615548
HP:0007550	Hypohidrosis or hyperhidrosis	200734	SPRED2	OMIM:619745
HP:0007550	Hypohidrosis or hyperhidrosis	6392	SDHD	OMIM:168000
HP:0007550	Hypohidrosis or hyperhidrosis	55768	NGLY1	OMIM:615273
HP:0007550	Hypohidrosis or hyperhidrosis	330	BIRC3	ORPHA:52417
HP:0007550	Hypohidrosis or hyperhidrosis	10892	MALT1	ORPHA:52417
HP:0007550	Hypohidrosis or hyperhidrosis	27086	FOXP1	ORPHA:52417
HP:0007550	Hypohidrosis or hyperhidrosis	3492	IGH	ORPHA:52417
HP:0007550	Hypohidrosis or hyperhidrosis	8915	BCL10	ORPHA:52417
HP:0007550	Hypohidrosis or hyperhidrosis	1001	CDH3	OMIM:225280
HP:0007550	Hypohidrosis or hyperhidrosis	5604	MAP2K1	OMIM:615279
HP:0007550	Hypohidrosis or hyperhidrosis	8710	SERPINB7	ORPHA:140966
HP:0007550	Hypohidrosis or hyperhidrosis	773	CACNA1A	ORPHA:2131
HP:0007550	Hypohidrosis or hyperhidrosis	6507	SLC1A3	ORPHA:2131
HP:0007550	Hypohidrosis or hyperhidrosis	477	ATP1A2	ORPHA:2131
HP:0007550	Hypohidrosis or hyperhidrosis	478	ATP1A3	ORPHA:2131
HP:0007550	Hypohidrosis or hyperhidrosis	4221	MEN1	ORPHA:97279
HP:0007550	Hypohidrosis or hyperhidrosis	4221	MEN1	ORPHA:99725
HP:0007550	Hypohidrosis or hyperhidrosis	7528	YY1	ORPHA:97279
HP:0007550	Hypohidrosis or hyperhidrosis	100134444	KCNJ18	ORPHA:79102
HP:0007550	Hypohidrosis or hyperhidrosis	2556	GABRA3	ORPHA:79102
HP:0007550	Hypohidrosis or hyperhidrosis	779	CACNA1S	ORPHA:79102
HP:0007550	Hypohidrosis or hyperhidrosis	6697	SPR	ORPHA:70594
HP:0007550	Hypohidrosis or hyperhidrosis	2517	FUCA1	ORPHA:349
HP:0007550	Hypohidrosis or hyperhidrosis	2887	GRB10	ORPHA:96182
HP:0007550	Hypohidrosis or hyperhidrosis	5605	MAP2K2	OMIM:615280
HP:0007550	Hypohidrosis or hyperhidrosis	57152	SLURP1	ORPHA:87503
HP:0007550	Hypohidrosis or hyperhidrosis	57152	SLURP1	OMIM:248300
HP:0007550	Hypohidrosis or hyperhidrosis	162514	TRPV3	OMIM:614594
HP:0007550	Hypohidrosis or hyperhidrosis	9373	PLAA	ORPHA:521426
HP:0007550	Hypohidrosis or hyperhidrosis	10161	LPAR6	OMIM:278150
HP:0007550	Hypohidrosis or hyperhidrosis	8450	CUL4B	ORPHA:85293
HP:0007550	Hypohidrosis or hyperhidrosis	55164	SHQ1	OMIM:619922
HP:0007550	Hypohidrosis or hyperhidrosis	3853	KRT6A	OMIM:615726
HP:0007550	Hypohidrosis or hyperhidrosis	595	CCND1	ORPHA:892
HP:0007550	Hypohidrosis or hyperhidrosis	1512	CTSH	ORPHA:2073
HP:0007550	Hypohidrosis or hyperhidrosis	5032	P2RY11	ORPHA:2073
HP:0007550	Hypohidrosis or hyperhidrosis	4340	MOG	ORPHA:2073
HP:0007550	Hypohidrosis or hyperhidrosis	3119	HLA-DQB1	ORPHA:2073
HP:0007550	Hypohidrosis or hyperhidrosis	3060	HCRT	ORPHA:2073
HP:0007550	Hypohidrosis or hyperhidrosis	22891	ZNF365	ORPHA:2073
HP:0007550	Hypohidrosis or hyperhidrosis	7292	TNFSF4	ORPHA:2073
HP:0007550	Hypohidrosis or hyperhidrosis	3868	KRT16	ORPHA:2199
HP:0007550	Hypohidrosis or hyperhidrosis	3857	KRT9	ORPHA:2199
HP:0007550	Hypohidrosis or hyperhidrosis	3848	KRT1	ORPHA:2199
HP:0007550	Hypohidrosis or hyperhidrosis	3265	HRAS	ORPHA:2874
HP:0007550	Hypohidrosis or hyperhidrosis	4914	NTRK1	ORPHA:642
HP:0007550	Hypohidrosis or hyperhidrosis	8803	SUCLA2	OMIM:612073
HP:0007550	Hypohidrosis or hyperhidrosis	667	DST	OMIM:614653
HP:0007550	Hypohidrosis or hyperhidrosis	80169	CTC1	ORPHA:1775
HP:0007550	Hypohidrosis or hyperhidrosis	26277	TINF2	ORPHA:1775
HP:0007550	Hypohidrosis or hyperhidrosis	55651	NHP2	ORPHA:1775
HP:0007550	Hypohidrosis or hyperhidrosis	79650	USB1	ORPHA:1775
HP:0007550	Hypohidrosis or hyperhidrosis	55135	WRAP53	ORPHA:1775
HP:0007550	Hypohidrosis or hyperhidrosis	51750	RTEL1	ORPHA:1775
HP:0007550	Hypohidrosis or hyperhidrosis	4869	NPM1	ORPHA:1775
HP:0007550	Hypohidrosis or hyperhidrosis	7012	TERC	ORPHA:1775
HP:0007550	Hypohidrosis or hyperhidrosis	55505	NOP10	ORPHA:1775
HP:0007550	Hypohidrosis or hyperhidrosis	5073	PARN	ORPHA:1775
HP:0007550	Hypohidrosis or hyperhidrosis	7298	TYMS	ORPHA:1775
HP:0007550	Hypohidrosis or hyperhidrosis	3145	HMBS	ORPHA:79276
HP:0007550	Hypohidrosis or hyperhidrosis	1188	CLCNKB	ORPHA:358
HP:0007550	Hypohidrosis or hyperhidrosis	6559	SLC12A3	ORPHA:358
HP:0007550	Hypohidrosis or hyperhidrosis	3767	KCNJ11	ORPHA:276580
HP:0007550	Hypohidrosis or hyperhidrosis	1743	DLST	ORPHA:29072
HP:0007550	Hypohidrosis or hyperhidrosis	4191	MDH2	ORPHA:29072
HP:0007550	Hypohidrosis or hyperhidrosis	6389	SDHA	ORPHA:29072
HP:0007550	Hypohidrosis or hyperhidrosis	23095	KIF1B	ORPHA:29072
HP:0007550	Hypohidrosis or hyperhidrosis	2271	FH	ORPHA:29072
HP:0007550	Hypohidrosis or hyperhidrosis	8402	SLC25A11	ORPHA:29072
HP:0007550	Hypohidrosis or hyperhidrosis	54949	SDHAF2	ORPHA:29072
HP:0007550	Hypohidrosis or hyperhidrosis	4763	NF1	ORPHA:29072
HP:0007550	Hypohidrosis or hyperhidrosis	7351	UCP2	ORPHA:276556
HP:0007550	Hypohidrosis or hyperhidrosis	1788	DNMT3A	ORPHA:276621
HP:0007550	Hypohidrosis or hyperhidrosis	2034	EPAS1	ORPHA:276621
HP:0007550	Hypohidrosis or hyperhidrosis	6927	HNF1A	ORPHA:324575
HP:0007550	Hypohidrosis or hyperhidrosis	6833	ABCC8	ORPHA:276575
HP:0007550	Hypohidrosis or hyperhidrosis	229	ALDOB	ORPHA:469
HP:0007550	Hypohidrosis or hyperhidrosis	170689	ADAMTS15	OMIM:620545
HP:0007550	Hypohidrosis or hyperhidrosis	3914	LAMB3	OMIM:226650
HP:0007550	Hypohidrosis or hyperhidrosis	1080	CFTR	ORPHA:498359
HP:0007550	Hypohidrosis or hyperhidrosis	3872	KRT17	OMIM:167210
HP:0007550	Hypohidrosis or hyperhidrosis	3872	KRT17	ORPHA:2309
HP:0007550	Hypohidrosis or hyperhidrosis	64065	PERP	ORPHA:659
HP:0007550	Hypohidrosis or hyperhidrosis	284654	RSPO1	OMIM:610644
HP:0007550	Hypohidrosis or hyperhidrosis	3854	KRT6B	ORPHA:2309
HP:0007550	Hypohidrosis or hyperhidrosis	4001	LMNB1	OMIM:169500
HP:0007550	Hypohidrosis or hyperhidrosis	4001	LMNB1	ORPHA:99027
HP:0007550	Hypohidrosis or hyperhidrosis	1041	CDSN	ORPHA:90368
HP:0007550	Hypohidrosis or hyperhidrosis	121391	KRT74	ORPHA:90368
HP:0007550	Hypohidrosis or hyperhidrosis	10558	SPTLC1	ORPHA:36386
HP:0007550	Hypohidrosis or hyperhidrosis	25923	ATL3	ORPHA:36386
HP:0007550	Hypohidrosis or hyperhidrosis	9517	SPTLC2	ORPHA:36386
HP:0007550	Hypohidrosis or hyperhidrosis	51062	ATL1	ORPHA:36386
HP:0033693	Phantosmia	9211	LGI1	OMIM:600512
HP:0033693	Phantosmia	5649	RELN	OMIM:600512
HP:0033693	Phantosmia	64780	MICAL1	OMIM:600512
HP:0012860	Testicular fibrosis	7840	ALMS1	ORPHA:64
HP:0025142	Constitutional symptom	55906	ZC4H2	OMIM:301041
HP:0025142	Constitutional symptom	6513	SLC2A1	ORPHA:64280
HP:0025142	Constitutional symptom	2562	GABRB3	ORPHA:64280
HP:0025142	Constitutional symptom	2554	GABRA1	ORPHA:64280
HP:0025142	Constitutional symptom	8912	CACNA1H	ORPHA:64280
HP:0025142	Constitutional symptom	8629	JRK	ORPHA:64280
HP:0025142	Constitutional symptom	2566	GABRG2	ORPHA:64280
HP:0025142	Constitutional symptom	23394	ADNP	ORPHA:404448
HP:0025142	Constitutional symptom	10466	COG5	ORPHA:263487
HP:0025142	Constitutional symptom	340533	NEXMIF	OMIM:300912
HP:0025142	Constitutional symptom	123606	NIPA1	ORPHA:100988
HP:0025142	Constitutional symptom	123606	NIPA1	OMIM:600363
HP:0025142	Constitutional symptom	23446	SLC44A1	OMIM:618868
HP:0025142	Constitutional symptom	54832	VPS13C	OMIM:616840
HP:0025142	Constitutional symptom	57704	GBA2	ORPHA:352641
HP:0025142	Constitutional symptom	57704	GBA2	ORPHA:320391
HP:0025142	Constitutional symptom	57704	GBA2	OMIM:614409
HP:0025142	Constitutional symptom	1786	DNMT1	ORPHA:314404
HP:0025142	Constitutional symptom	84320	ACBD6	OMIM:620785
HP:0025142	Constitutional symptom	6347	CCL2	OMIM:182940
HP:0025142	Constitutional symptom	80199	FUZ	OMIM:182940
HP:0025142	Constitutional symptom	6862	TBXT	OMIM:182940
HP:0025142	Constitutional symptom	57216	VANGL2	OMIM:182940
HP:0025142	Constitutional symptom	10479	SLC9A6	OMIM:300243
HP:0025142	Constitutional symptom	81790	RNF170	OMIM:619686
HP:0025142	Constitutional symptom	25814	ATXN10	OMIM:603516
HP:0025142	Constitutional symptom	5610	EIF2AK2	OMIM:618877
HP:0025142	Constitutional symptom	128486	FITM2	OMIM:618635
HP:0025142	Constitutional symptom	2581	GALC	ORPHA:206448
HP:0025142	Constitutional symptom	3508	IGHMBP2	OMIM:604320
HP:0025142	Constitutional symptom	100996717	NOTCH2NLC	OMIM:603472
HP:0025142	Constitutional symptom	6904	TBCD	ORPHA:496641
HP:0025142	Constitutional symptom	6904	TBCD	OMIM:617193
HP:0025142	Constitutional symptom	90161	HS6ST2	OMIM:301025
HP:0025142	Constitutional symptom	410	ARSA	ORPHA:309271
HP:0025142	Constitutional symptom	410	ARSA	ORPHA:309263
HP:0025142	Constitutional symptom	410	ARSA	ORPHA:309256
HP:0025142	Constitutional symptom	410	ARSA	OMIM:250100
HP:0025142	Constitutional symptom	2590	GALNT2	OMIM:618885
HP:0025142	Constitutional symptom	51319	RSRC1	OMIM:618402
HP:0025142	Constitutional symptom	54463	RETREG1	OMIM:613115
HP:0025142	Constitutional symptom	6575	SLC20A2	OMIM:213600
HP:0025142	Constitutional symptom	5159	PDGFRB	OMIM:213600
HP:0025142	Constitutional symptom	549	AUH	OMIM:250950
HP:0025142	Constitutional symptom	80208	SPG11	OMIM:602099
HP:0025142	Constitutional symptom	80208	SPG11	ORPHA:300605
HP:0025142	Constitutional symptom	80208	SPG11	OMIM:604360
HP:0025142	Constitutional symptom	7276	TTR	OMIM:105210
HP:0025142	Constitutional symptom	823	CAPN1	OMIM:616907
HP:0025142	Constitutional symptom	10273	STUB1	OMIM:618093
HP:0025142	Constitutional symptom	2632	GBE1	ORPHA:206583
HP:0025142	Constitutional symptom	2632	GBE1	OMIM:263570
HP:0025142	Constitutional symptom	1137	CHRNA4	ORPHA:98784
HP:0025142	Constitutional symptom	57010	CABP4	ORPHA:98784
HP:0025142	Constitutional symptom	1141	CHRNB2	ORPHA:98784
HP:0025142	Constitutional symptom	57582	KCNT1	ORPHA:98784
HP:0025142	Constitutional symptom	1392	CRH	ORPHA:98784
HP:0025142	Constitutional symptom	9420	CYP7B1	OMIM:270800
HP:0025142	Constitutional symptom	26278	SACS	ORPHA:98
HP:0025142	Constitutional symptom	9839	ZEB2	ORPHA:261552
HP:0025142	Constitutional symptom	9839	ZEB2	ORPHA:261537
HP:0025142	Constitutional symptom	9860	LRIG2	ORPHA:2704
HP:0025142	Constitutional symptom	60495	HPSE2	ORPHA:2704
HP:0025142	Constitutional symptom	9907	AP5Z1	OMIM:613647
HP:0025142	Constitutional symptom	9907	AP5Z1	ORPHA:306511
HP:0025142	Constitutional symptom	79152	FA2H	OMIM:612319
HP:0025142	Constitutional symptom	79152	FA2H	ORPHA:171629
HP:0025142	Constitutional symptom	4747	NEFL	ORPHA:101085
HP:0025142	Constitutional symptom	6908	TBP	OMIM:607136
HP:0025142	Constitutional symptom	4854	NOTCH3	OMIM:125310
HP:0025142	Constitutional symptom	3752	KCND3	ORPHA:98772
HP:0025142	Constitutional symptom	2261	FGFR3	OMIM:616482
HP:0025142	Constitutional symptom	56978	PRDM8	OMIM:616640
HP:0025142	Constitutional symptom	23259	DDHD2	OMIM:615033
HP:0025142	Constitutional symptom	92609	TIMM50	OMIM:617698
HP:0025142	Constitutional symptom	92609	TIMM50	ORPHA:505216
HP:0025142	Constitutional symptom	54796	BNC2	ORPHA:93110
HP:0025142	Constitutional symptom	54796	BNC2	OMIM:618612
HP:0025142	Constitutional symptom	3748	KCNC3	ORPHA:98768
HP:0025142	Constitutional symptom	80025	PANK2	OMIM:234200
HP:0025142	Constitutional symptom	724066	ATXN8	ORPHA:98760
HP:0025142	Constitutional symptom	6315	ATXN8OS	ORPHA:98760
HP:0025142	Constitutional symptom	23503	ZFYVE26	OMIM:270700
HP:0025142	Constitutional symptom	51611	DPH5	OMIM:620070
HP:0025142	Constitutional symptom	283446	MYO1H	OMIM:619482
HP:0025142	Constitutional symptom	10280	SIGMAR1	ORPHA:300605
HP:0025142	Constitutional symptom	57679	ALS2	ORPHA:300605
HP:0025142	Constitutional symptom	57679	ALS2	OMIM:205100
HP:0025142	Constitutional symptom	57679	ALS2	OMIM:607225
HP:0025142	Constitutional symptom	6305	SBF1	OMIM:615284
HP:0025142	Constitutional symptom	7750	ZMYM2	OMIM:619522
HP:0025142	Constitutional symptom	6253	RTN2	OMIM:604805
HP:0025142	Constitutional symptom	6253	RTN2	ORPHA:100993
HP:0025142	Constitutional symptom	79803	HPS6	OMIM:614075
HP:0025142	Constitutional symptom	11160	ERLIN2	OMIM:620512
HP:0025142	Constitutional symptom	10667	FARS2	ORPHA:466722
HP:0025142	Constitutional symptom	8913	CACNA1G	ORPHA:458803
HP:0025142	Constitutional symptom	8913	CACNA1G	OMIM:616795
HP:0025142	Constitutional symptom	1315	COPB1	OMIM:619255
HP:0025142	Constitutional symptom	2678	GGT1	OMIM:231950
HP:0025142	Constitutional symptom	3329	HSPD1	OMIM:605280
HP:0025142	Constitutional symptom	3329	HSPD1	ORPHA:100994
HP:0025142	Constitutional symptom	25913	POT1	OMIM:620368
HP:0025142	Constitutional symptom	8799	PEX11B	OMIM:614920
HP:0025142	Constitutional symptom	9757	KMT2B	OMIM:619934
HP:0025142	Constitutional symptom	6509	SLC1A4	ORPHA:447997
HP:0025142	Constitutional symptom	84978	FRMD5	OMIM:620094
HP:0025142	Constitutional symptom	51271	UBAP1	ORPHA:100993
HP:0025142	Constitutional symptom	126129	CPT1C	ORPHA:444099
HP:0025142	Constitutional symptom	80217	CFAP43	OMIM:236690
HP:0025142	Constitutional symptom	170302	ARX	OMIM:300419
HP:0025142	Constitutional symptom	57165	GJC2	OMIM:613206
HP:0025142	Constitutional symptom	3798	KIF5A	OMIM:604187
HP:0025142	Constitutional symptom	55081	IFT57	OMIM:617927
HP:0025142	Constitutional symptom	3757	KCNH2	OMIM:609620
HP:0025142	Constitutional symptom	3757	KCNH2	ORPHA:101016
HP:0025142	Constitutional symptom	3757	KCNH2	ORPHA:51083
HP:0025142	Constitutional symptom	3757	KCNH2	OMIM:613688
HP:0025142	Constitutional symptom	10021	HCN4	OMIM:163800
HP:0025142	Constitutional symptom	287	ANK2	OMIM:600919
HP:0025142	Constitutional symptom	287	ANK2	ORPHA:101016
HP:0025142	Constitutional symptom	131118	DNAJC19	OMIM:610198
HP:0025142	Constitutional symptom	1824	DSC2	OMIM:610476
HP:0025142	Constitutional symptom	3949	LDLR	ORPHA:391665
HP:0025142	Constitutional symptom	255738	PCSK9	ORPHA:391665
HP:0025142	Constitutional symptom	26119	LDLRAP1	ORPHA:391665
HP:0025142	Constitutional symptom	338	APOB	ORPHA:391665
HP:0025142	Constitutional symptom	64240	ABCG5	ORPHA:391665
HP:0025142	Constitutional symptom	64241	ABCG8	ORPHA:391665
HP:0025142	Constitutional symptom	805	CALM2	ORPHA:101016
HP:0025142	Constitutional symptom	805	CALM2	ORPHA:3286
HP:0025142	Constitutional symptom	6910	TBX5	ORPHA:101016
HP:0025142	Constitutional symptom	6336	SCN10A	ORPHA:101016
HP:0025142	Constitutional symptom	10142	AKAP9	ORPHA:101016
HP:0025142	Constitutional symptom	9722	NOS1AP	ORPHA:101016
HP:0025142	Constitutional symptom	10345	TRDN	ORPHA:101016
HP:0025142	Constitutional symptom	10345	TRDN	OMIM:604772
HP:0025142	Constitutional symptom	10345	TRDN	ORPHA:3286
HP:0025142	Constitutional symptom	808	CALM3	ORPHA:101016
HP:0025142	Constitutional symptom	808	CALM3	ORPHA:3286
HP:0025142	Constitutional symptom	6640	SNTA1	ORPHA:101016
HP:0025142	Constitutional symptom	5318	PKP2	OMIM:609040
HP:0025142	Constitutional symptom	2010	EMD	OMIM:310300
HP:0025142	Constitutional symptom	2010	EMD	ORPHA:98863
HP:0025142	Constitutional symptom	4634	MYL3	OMIM:608751
HP:0025142	Constitutional symptom	2771	GNAI2	OMIM:192605
HP:0025142	Constitutional symptom	6262	RYR2	OMIM:115000
HP:0025142	Constitutional symptom	6262	RYR2	OMIM:604772
HP:0025142	Constitutional symptom	6262	RYR2	ORPHA:3286
HP:0025142	Constitutional symptom	2318	FLNC	OMIM:617047
HP:0025142	Constitutional symptom	2783	GNB2	OMIM:619464
HP:0025142	Constitutional symptom	221496	LEMD2	OMIM:212500
HP:0025142	Constitutional symptom	781	CACNA2D1	ORPHA:51083
HP:0025142	Constitutional symptom	6508	SLC4A3	ORPHA:51083
HP:0025142	Constitutional symptom	6508	SLC4A3	OMIM:620231
HP:0025142	Constitutional symptom	1804	DPP6	OMIM:612956
HP:0025142	Constitutional symptom	6804	STX1A	ORPHA:904
HP:0025142	Constitutional symptom	7461	CLIP2	ORPHA:904
HP:0025142	Constitutional symptom	84277	DNAJC30	ORPHA:904
HP:0025142	Constitutional symptom	8468	FKBP6	ORPHA:904
HP:0025142	Constitutional symptom	5982	RFC2	ORPHA:904
HP:0025142	Constitutional symptom	2969	GTF2I	ORPHA:904
HP:0025142	Constitutional symptom	3984	LIMK1	ORPHA:904
HP:0025142	Constitutional symptom	9569	GTF2IRD1	ORPHA:904
HP:0025142	Constitutional symptom	155382	VPS37D	ORPHA:904
HP:0025142	Constitutional symptom	155368	METTL27	ORPHA:904
HP:0025142	Constitutional symptom	114049	BUD23	ORPHA:904
HP:0025142	Constitutional symptom	7458	EIF4H	ORPHA:904
HP:0025142	Constitutional symptom	84163	GTF2IRD2	ORPHA:904
HP:0025142	Constitutional symptom	26608	TBL2	ORPHA:904
HP:0025142	Constitutional symptom	653361	NCF1	ORPHA:904
HP:0025142	Constitutional symptom	135886	TMEM270	ORPHA:904
HP:0025142	Constitutional symptom	9031	BAZ1B	ORPHA:904
HP:0025142	Constitutional symptom	7043	TGFB3	OMIM:107970
HP:0025142	Constitutional symptom	4040	LRP6	OMIM:610947
HP:0025142	Constitutional symptom	207	AKT1	ORPHA:744
HP:0025142	Constitutional symptom	79188	TMEM43	OMIM:604400
HP:0025142	Constitutional symptom	79188	TMEM43	ORPHA:98853
HP:0025142	Constitutional symptom	80206	FHOD3	OMIM:619402
HP:0025142	Constitutional symptom	27068	PPA2	OMIM:617222
HP:0025142	Constitutional symptom	54800	KLHL24	OMIM:620236
HP:0025142	Constitutional symptom	51422	PRKAG2	OMIM:194200
HP:0025142	Constitutional symptom	23171	GPD1L	OMIM:611777
HP:0025142	Constitutional symptom	51778	MYOZ2	OMIM:613838
HP:0025142	Constitutional symptom	2273	FHL1	ORPHA:98863
HP:0025142	Constitutional symptom	23529	CLCF1	ORPHA:1545
HP:0025142	Constitutional symptom	9244	CRLF1	ORPHA:1545
HP:0025142	Constitutional symptom	144245	ALG10B	OMIM:613688
HP:0025142	Constitutional symptom	23345	SYNE1	ORPHA:98853
HP:0025142	Constitutional symptom	23224	SYNE2	ORPHA:98853
HP:0025142	Constitutional symptom	50964	SOST	OMIM:269500
HP:0025142	Constitutional symptom	6331	SCN5A	OMIM:113900
HP:0025142	Constitutional symptom	6331	SCN5A	OMIM:272120
HP:0025142	Constitutional symptom	775	CACNA1C	OMIM:601005
HP:0025142	Constitutional symptom	3728	JUP	OMIM:601214
HP:0025142	Constitutional symptom	7259	TSPYL1	OMIM:608800
HP:0025142	Constitutional symptom	859	CAV3	OMIM:192600
HP:0025142	Constitutional symptom	85366	MYLK2	OMIM:192600
HP:0025142	Constitutional symptom	4624	MYH6	OMIM:192600
HP:0025142	Constitutional symptom	4625	MYH7	OMIM:192600
HP:0025142	Constitutional symptom	253017	TECRL	OMIM:614021
HP:0025142	Constitutional symptom	4638	MYLK	OMIM:613780
HP:0025142	Constitutional symptom	801	CALM1	OMIM:616247
HP:0025142	Constitutional symptom	4088	SMAD3	OMIM:613795
HP:0025142	Constitutional symptom	3265	HRAS	OMIM:218040
HP:0025142	Constitutional symptom	3030	HADHA	OMIM:609016
HP:0025142	Constitutional symptom	2006	ELN	OMIM:194050
HP:0025142	Constitutional symptom	51085	MLXIPL	OMIM:194050
HP:0025142	Constitutional symptom	845	CASQ2	OMIM:611938
HP:0025142	Constitutional symptom	2070	EYA4	OMIM:605362
HP:0025142	Constitutional symptom	90268	OTULIN	OMIM:617099
HP:0025142	Constitutional symptom	144811	LACC1	ORPHA:85414
HP:0025142	Constitutional symptom	4282	MIF	ORPHA:85414
HP:0025142	Constitutional symptom	3569	IL6	ORPHA:85414
HP:0025142	Constitutional symptom	3569	IL6	OMIM:266600
HP:0025142	Constitutional symptom	229	ALDOB	OMIM:229600
HP:0025142	Constitutional symptom	229	ALDOB	ORPHA:469
HP:0025142	Constitutional symptom	8573	CASK	OMIM:300908
HP:0025142	Constitutional symptom	2539	G6PD	OMIM:300908
HP:0025142	Constitutional symptom	5009	OTC	OMIM:311250
HP:0025142	Constitutional symptom	26873	OPLAH	OMIM:260005
HP:0025142	Constitutional symptom	23417	MLYCD	OMIM:248360
HP:0025142	Constitutional symptom	324	APC	ORPHA:99818
HP:0025142	Constitutional symptom	324	APC	OMIM:619182
HP:0025142	Constitutional symptom	324	APC	ORPHA:873
HP:0025142	Constitutional symptom	2668	GDNF	ORPHA:388
HP:0025142	Constitutional symptom	6608	SMO	ORPHA:388
HP:0025142	Constitutional symptom	1889	ECE1	ORPHA:388
HP:0025142	Constitutional symptom	6720	SREBF1	ORPHA:388
HP:0025142	Constitutional symptom	1908	EDN3	ORPHA:388
HP:0025142	Constitutional symptom	1908	EDN3	ORPHA:897
HP:0025142	Constitutional symptom	223117	SEMA3D	ORPHA:388
HP:0025142	Constitutional symptom	1910	EDNRB	ORPHA:388
HP:0025142	Constitutional symptom	1910	EDNRB	ORPHA:897
HP:0025142	Constitutional symptom	10512	SEMA3C	ORPHA:388
HP:0025142	Constitutional symptom	2064	ERBB2	ORPHA:388
HP:0025142	Constitutional symptom	2065	ERBB3	ORPHA:388
HP:0025142	Constitutional symptom	4902	NRTN	ORPHA:388
HP:0025142	Constitutional symptom	2130	EWSR1	ORPHA:83469
HP:0025142	Constitutional symptom	10686	CLDN16	OMIM:248250
HP:0025142	Constitutional symptom	5498	PPOX	OMIM:176200
HP:0025142	Constitutional symptom	5498	PPOX	ORPHA:79473
HP:0025142	Constitutional symptom	1890	TYMP	ORPHA:298
HP:0025142	Constitutional symptom	1890	TYMP	OMIM:603041
HP:0025142	Constitutional symptom	3980	LIG3	ORPHA:298
HP:0025142	Constitutional symptom	2642	GCGR	OMIM:619290
HP:0025142	Constitutional symptom	2642	GCGR	ORPHA:438274
HP:0025142	Constitutional symptom	353	APRT	OMIM:614723
HP:0025142	Constitutional symptom	7132	TNFRSF1A	OMIM:142680
HP:0025142	Constitutional symptom	7132	TNFRSF1A	ORPHA:32960
HP:0025142	Constitutional symptom	6794	STK11	OMIM:175200
HP:0025142	Constitutional symptom	6794	STK11	ORPHA:2869
HP:0025142	Constitutional symptom	2492	FSHR	OMIM:608115
HP:0025142	Constitutional symptom	2492	FSHR	ORPHA:64739
HP:0025142	Constitutional symptom	3117	HLA-DQA1	OMIM:212750
HP:0025142	Constitutional symptom	3119	HLA-DQB1	OMIM:212750
HP:0025142	Constitutional symptom	9570	GOSR2	OMIM:620166
HP:0025142	Constitutional symptom	84133	ZNRF3	ORPHA:1501
HP:0025142	Constitutional symptom	64127	NOD2	OMIM:617321
HP:0025142	Constitutional symptom	64127	NOD2	OMIM:266600
HP:0025142	Constitutional symptom	5728	PTEN	ORPHA:79076
HP:0025142	Constitutional symptom	2984	GUCY2C	OMIM:614616
HP:0025142	Constitutional symptom	22900	CARD8	OMIM:619079
HP:0025142	Constitutional symptom	2321	FLT1	ORPHA:275555
HP:0025142	Constitutional symptom	219736	STOX1	ORPHA:275555
HP:0025142	Constitutional symptom	10699	CORIN	ORPHA:275555
HP:0025142	Constitutional symptom	84992	PIGY	OMIM:616809
HP:0025142	Constitutional symptom	11330	CTRC	OMIM:167800
HP:0025142	Constitutional symptom	11330	CTRC	ORPHA:676
HP:0025142	Constitutional symptom	5645	PRSS2	OMIM:167800
HP:0025142	Constitutional symptom	5645	PRSS2	ORPHA:676
HP:0025142	Constitutional symptom	5644	PRSS1	OMIM:167800
HP:0025142	Constitutional symptom	5644	PRSS1	ORPHA:676
HP:0025142	Constitutional symptom	6690	SPINK1	OMIM:167800
HP:0025142	Constitutional symptom	6690	SPINK1	ORPHA:676
HP:0025142	Constitutional symptom	6690	SPINK1	OMIM:608189
HP:0025142	Constitutional symptom	5205	ATP8B1	ORPHA:69665
HP:0025142	Constitutional symptom	8647	ABCB11	ORPHA:69665
HP:0025142	Constitutional symptom	5244	ABCB4	ORPHA:69665
HP:0025142	Constitutional symptom	9971	NR1H4	ORPHA:69665
HP:0025142	Constitutional symptom	6288	SAA1	ORPHA:85445
HP:0025142	Constitutional symptom	11231	SEC63	ORPHA:2924
HP:0025142	Constitutional symptom	5589	PRKCSH	ORPHA:2924
HP:0025142	Constitutional symptom	4041	LRP5	ORPHA:2924
HP:0025142	Constitutional symptom	1649	DDIT3	ORPHA:99967
HP:0025142	Constitutional symptom	19	ABCA1	ORPHA:31150
HP:0025142	Constitutional symptom	7234	TRU-TCA1-1	OMIM:620198
HP:0025142	Constitutional symptom	9968	MED12	OMIM:301068
HP:0025142	Constitutional symptom	2153	F5	ORPHA:131
HP:0025142	Constitutional symptom	5885	RAD21	OMIM:611376
HP:0025142	Constitutional symptom	11181	TREH	ORPHA:103909
HP:0025142	Constitutional symptom	11181	TREH	OMIM:612119
HP:0025142	Constitutional symptom	710	SERPING1	OMIM:106100
HP:0025142	Constitutional symptom	710	SERPING1	ORPHA:100050
HP:0025142	Constitutional symptom	10312	TCIRG1	ORPHA:486
HP:0025142	Constitutional symptom	6728	SRP19	ORPHA:486
HP:0025142	Constitutional symptom	2672	GFI1	ORPHA:486
HP:0025142	Constitutional symptom	81570	CLPB	ORPHA:486
HP:0025142	Constitutional symptom	2000	ELF4	OMIM:301074
HP:0025142	Constitutional symptom	165918	RNF168	ORPHA:420741
HP:0025142	Constitutional symptom	1188	CLCNKB	ORPHA:358
HP:0025142	Constitutional symptom	4594	MMUT	ORPHA:79312
HP:0025142	Constitutional symptom	950	SCARB2	ORPHA:77259
HP:0025142	Constitutional symptom	4175	MCM6	OMIM:223100
HP:0025142	Constitutional symptom	2767	GNA11	ORPHA:428
HP:0025142	Constitutional symptom	846	CASR	ORPHA:428
HP:0025142	Constitutional symptom	846	CASR	ORPHA:676
HP:0025142	Constitutional symptom	6303	SAT1	ORPHA:93552
HP:0025142	Constitutional symptom	1776	DNASE1L3	ORPHA:36412
HP:0025142	Constitutional symptom	53335	BCL11A	ORPHA:251380
HP:0025142	Constitutional symptom	10661	KLF1	ORPHA:251380
HP:0025142	Constitutional symptom	3047	HBG1	ORPHA:251380
HP:0025142	Constitutional symptom	3048	HBG2	ORPHA:251380
HP:0025142	Constitutional symptom	2258	FGF13	OMIM:301058
HP:0025142	Constitutional symptom	4609	MYC	ORPHA:543
HP:0025142	Constitutional symptom	4286	MITF	ORPHA:897
HP:0025142	Constitutional symptom	6663	SOX10	ORPHA:897
HP:0025142	Constitutional symptom	6663	SOX10	ORPHA:163746
HP:0025142	Constitutional symptom	4868	NPHS1	ORPHA:656
HP:0025142	Constitutional symptom	23607	CD2AP	ORPHA:656
HP:0025142	Constitutional symptom	9688	NUP93	ORPHA:656
HP:0025142	Constitutional symptom	4643	MYO1E	ORPHA:656
HP:0025142	Constitutional symptom	64423	INF2	ORPHA:656
HP:0025142	Constitutional symptom	26130	GAPVD1	ORPHA:656
HP:0025142	Constitutional symptom	57122	NUP107	ORPHA:656
HP:0025142	Constitutional symptom	51479	ANKFY1	ORPHA:656
HP:0025142	Constitutional symptom	54443	ANLN	ORPHA:656
HP:0025142	Constitutional symptom	5800	PTPRO	ORPHA:656
HP:0025142	Constitutional symptom	286204	CRB2	ORPHA:656
HP:0025142	Constitutional symptom	23165	NUP205	ORPHA:656
HP:0025142	Constitutional symptom	2013	EMP2	ORPHA:656
HP:0025142	Constitutional symptom	79023	NUP37	ORPHA:656
HP:0025142	Constitutional symptom	51196	PLCE1	ORPHA:656
HP:0025142	Constitutional symptom	79902	NUP85	ORPHA:656
HP:0025142	Constitutional symptom	1285	COL4A3	ORPHA:656
HP:0025142	Constitutional symptom	396	ARHGDIA	ORPHA:656
HP:0025142	Constitutional symptom	79934	COQ8B	ORPHA:656
HP:0025142	Constitutional symptom	23279	NUP160	ORPHA:656
HP:0025142	Constitutional symptom	9863	MAGI2	ORPHA:656
HP:0025142	Constitutional symptom	81	ACTN4	ORPHA:656
HP:0025142	Constitutional symptom	7225	TRPC6	ORPHA:656
HP:0025142	Constitutional symptom	8542	APOL1	ORPHA:656
HP:0025142	Constitutional symptom	54885	TBC1D8B	ORPHA:656
HP:0025142	Constitutional symptom	7827	NPHS2	ORPHA:656
HP:0025142	Constitutional symptom	83478	ARHGAP24	ORPHA:656
HP:0025142	Constitutional symptom	23500	DAAM2	ORPHA:656
HP:0025142	Constitutional symptom	5076	PAX2	ORPHA:656
HP:0025142	Constitutional symptom	55746	NUP133	ORPHA:656
HP:0025142	Constitutional symptom	10616	RBCK1	OMIM:615895
HP:0025142	Constitutional symptom	1760	DMPK	ORPHA:589821
HP:0025142	Constitutional symptom	55503	TRPV6	ORPHA:676
HP:0025142	Constitutional symptom	1357	CPA1	ORPHA:676
HP:0025142	Constitutional symptom	650	BMP2	OMIM:235200
HP:0025142	Constitutional symptom	54795	TRPM4	ORPHA:871
HP:0025142	Constitutional symptom	1053	CEBPE	OMIM:260570
HP:0025142	Constitutional symptom	64840	PORCN	ORPHA:2092
HP:0025142	Constitutional symptom	3257	HPS1	OMIM:203300
HP:0025142	Constitutional symptom	1056	CEL	OMIM:609812
HP:0025142	Constitutional symptom	64711	HS3ST6	OMIM:619367
HP:0025142	Constitutional symptom	10585	POMT1	ORPHA:86812
HP:0025142	Constitutional symptom	51816	ADA2	OMIM:615688
HP:0025142	Constitutional symptom	91662	NLRP12	OMIM:611762
HP:0025142	Constitutional symptom	3145	HMBS	OMIM:176000
HP:0025142	Constitutional symptom	3145	HMBS	ORPHA:79276
HP:0025142	Constitutional symptom	55898	UNC45A	OMIM:619377
HP:0025142	Constitutional symptom	210	ALAD	ORPHA:100924
HP:0025142	Constitutional symptom	72	ACTG2	OMIM:155310
HP:0025142	Constitutional symptom	1371	CPOX	OMIM:121300
HP:0025142	Constitutional symptom	1371	CPOX	ORPHA:79273
HP:0025142	Constitutional symptom	6850	SYK	OMIM:619381
HP:0025142	Constitutional symptom	1604	CD55	OMIM:226300
HP:0025142	Constitutional symptom	8737	RIPK1	OMIM:618852
HP:0025142	Constitutional symptom	4689	NCF4	OMIM:613960
HP:0025142	Constitutional symptom	7388	UQCRH	OMIM:620137
HP:0025142	Constitutional symptom	2693	GHSR	ORPHA:314811
HP:0025142	Constitutional symptom	87178	PNPT1	ORPHA:101111
HP:0025142	Constitutional symptom	10020	GNE	ORPHA:3166
HP:0025142	Constitutional symptom	4023	LPL	OMIM:238600
HP:0025142	Constitutional symptom	2099	ESR1	ORPHA:785
HP:0025142	Constitutional symptom	3074	HEXB	OMIM:268800
HP:0025142	Constitutional symptom	2161	F12	OMIM:610618
HP:0025142	Constitutional symptom	5354	PLP1	ORPHA:99015
HP:0025142	Constitutional symptom	1399	CRKL	ORPHA:261330
HP:0025142	Constitutional symptom	5594	MAPK1	ORPHA:261330
HP:0025142	Constitutional symptom	6299	SALL1	ORPHA:857
HP:0025142	Constitutional symptom	51339	DACT1	ORPHA:857
HP:0025142	Constitutional symptom	8626	TP63	ORPHA:93930
HP:0025142	Constitutional symptom	3670	ISL1	ORPHA:93930
HP:0025142	Constitutional symptom	25778	DSTYK	ORPHA:101003
HP:0025142	Constitutional symptom	10528	NOP56	ORPHA:276198
HP:0025142	Constitutional symptom	9663	LPIN2	OMIM:609628
HP:0025142	Constitutional symptom	9663	LPIN2	ORPHA:77297
HP:0025142	Constitutional symptom	7421	VDR	ORPHA:93160
HP:0025142	Constitutional symptom	7421	VDR	OMIM:277440
HP:0025142	Constitutional symptom	2778	GNAS	OMIM:174800
HP:0025142	Constitutional symptom	2778	GNAS	ORPHA:562
HP:0025142	Constitutional symptom	2778	GNAS	ORPHA:2762
HP:0025142	Constitutional symptom	2778	GNAS	ORPHA:57782
HP:0025142	Constitutional symptom	23592	LEMD3	ORPHA:166119
HP:0025142	Constitutional symptom	652	BMP4	ORPHA:828
HP:0025142	Constitutional symptom	29887	SNX10	ORPHA:667
HP:0025142	Constitutional symptom	8600	TNFSF11	ORPHA:667
HP:0025142	Constitutional symptom	5604	MAP2K1	ORPHA:389
HP:0025142	Constitutional symptom	4893	NRAS	ORPHA:389
HP:0025142	Constitutional symptom	673	BRAF	ORPHA:389
HP:0025142	Constitutional symptom	8792	TNFRSF11A	OMIM:174810
HP:0025142	Constitutional symptom	8792	TNFRSF11A	OMIM:602080
HP:0025142	Constitutional symptom	1184	CLCN5	OMIM:300009
HP:0025142	Constitutional symptom	1184	CLCN5	OMIM:300554
HP:0025142	Constitutional symptom	3248	HPGD	ORPHA:217059
HP:0025142	Constitutional symptom	3248	HPGD	ORPHA:2796
HP:0025142	Constitutional symptom	120227	CYP2R1	OMIM:600081
HP:0025142	Constitutional symptom	120227	CYP2R1	ORPHA:289157
HP:0025142	Constitutional symptom	5745	PTH1R	ORPHA:296
HP:0025142	Constitutional symptom	3418	IDH2	ORPHA:296
HP:0025142	Constitutional symptom	3418	IDH2	ORPHA:163634
HP:0025142	Constitutional symptom	3417	IDH1	ORPHA:296
HP:0025142	Constitutional symptom	3417	IDH1	ORPHA:163634
HP:0025142	Constitutional symptom	6578	SLCO2A1	ORPHA:2796
HP:0025142	Constitutional symptom	1594	CYP27B1	OMIM:264700
HP:0025142	Constitutional symptom	1594	CYP27B1	ORPHA:289157
HP:0025142	Constitutional symptom	7010	TEK	ORPHA:1059
HP:0025142	Constitutional symptom	7471	WNT1	ORPHA:85193
HP:0025142	Constitutional symptom	22943	DKK1	ORPHA:85193
HP:0025142	Constitutional symptom	89780	WNT3A	ORPHA:85193
HP:0025142	Constitutional symptom	4853	NOTCH2	ORPHA:955
HP:0025142	Constitutional symptom	1588	CYP19A1	ORPHA:91
HP:0025142	Constitutional symptom	142680	SLC34A3	OMIM:241530
HP:0025142	Constitutional symptom	142680	SLC34A3	ORPHA:157215
HP:0025142	Constitutional symptom	5781	PTPN11	ORPHA:2499
HP:0025142	Constitutional symptom	7305	TYROBP	ORPHA:2770
HP:0025142	Constitutional symptom	7040	TGFB1	ORPHA:1328
HP:0025142	Constitutional symptom	7227	TRPS1	ORPHA:502
HP:0025142	Constitutional symptom	5345	SERPINF2	ORPHA:79
HP:0025142	Constitutional symptom	6569	SLC34A1	OMIM:613388
HP:0025142	Constitutional symptom	6569	SLC34A1	ORPHA:3337
HP:0025142	Constitutional symptom	6569	SLC34A1	ORPHA:157215
HP:0025142	Constitutional symptom	1962	EHHADH	ORPHA:3337
HP:0025142	Constitutional symptom	2628	GATM	ORPHA:3337
HP:0025142	Constitutional symptom	137682	NDUFAF6	ORPHA:3337
HP:0025142	Constitutional symptom	3554	IL1R1	OMIM:259680
HP:0025142	Constitutional symptom	1758	DMP1	ORPHA:289176
HP:0025142	Constitutional symptom	79158	GNPTAB	ORPHA:423461
HP:0025142	Constitutional symptom	57592	ZNF687	OMIM:616833
HP:0025142	Constitutional symptom	5696	PSMB8	OMIM:256040
HP:0025142	Constitutional symptom	6399	TRAPPC2	ORPHA:93284
HP:0025142	Constitutional symptom	6399	TRAPPC2	OMIM:313400
HP:0025142	Constitutional symptom	3560	IL2RB	ORPHA:85408
HP:0025142	Constitutional symptom	79722	ANKRD55	ORPHA:85408
HP:0025142	Constitutional symptom	919	CD247	ORPHA:85408
HP:0025142	Constitutional symptom	3559	IL2RA	ORPHA:85408
HP:0025142	Constitutional symptom	5771	PTPN2	ORPHA:85408
HP:0025142	Constitutional symptom	1300	COL10A1	ORPHA:174
HP:0025142	Constitutional symptom	84572	GNPTG	OMIM:252605
HP:0025142	Constitutional symptom	9469	CHST3	OMIM:143095
HP:0025142	Constitutional symptom	9469	CHST3	ORPHA:263463
HP:0025142	Constitutional symptom	340061	STING1	OMIM:615934
HP:0025142	Constitutional symptom	84823	LMNB2	ORPHA:79087
HP:0025142	Constitutional symptom	1302	COL11A2	OMIM:184840
HP:0025142	Constitutional symptom	1302	COL11A2	OMIM:215150
HP:0025142	Constitutional symptom	1302	COL11A2	ORPHA:166100
HP:0025142	Constitutional symptom	1836	SLC26A2	OMIM:226900
HP:0025142	Constitutional symptom	1836	SLC26A2	ORPHA:93307
HP:0025142	Constitutional symptom	715	C1R	OMIM:130080
HP:0025142	Constitutional symptom	8838	CCN6	ORPHA:1159
HP:0025142	Constitutional symptom	5336	PLCG2	OMIM:614878
HP:0025142	Constitutional symptom	5692	PSMB4	OMIM:617591
HP:0025142	Constitutional symptom	2157	F8	ORPHA:169805
HP:0025142	Constitutional symptom	2157	F8	ORPHA:169802
HP:0025142	Constitutional symptom	100151683	RNU4ATAC	ORPHA:1824
HP:0025142	Constitutional symptom	4313	MMP2	OMIM:259600
HP:0025142	Constitutional symptom	3081	HGD	ORPHA:56
HP:0025142	Constitutional symptom	3081	HGD	OMIM:203500
HP:0025142	Constitutional symptom	10801	SEPTIN9	ORPHA:2901
HP:0025142	Constitutional symptom	6307	MSMO1	OMIM:616834
HP:0025142	Constitutional symptom	411	ARSB	OMIM:253200
HP:0025142	Constitutional symptom	427	ASAH1	ORPHA:333
HP:0025142	Constitutional symptom	427	ASAH1	OMIM:228000
HP:0025142	Constitutional symptom	4621	MYH3	OMIM:193700
HP:0025142	Constitutional symptom	29940	DSE	OMIM:615539
HP:0025142	Constitutional symptom	11145	PLAAT3	OMIM:620683
HP:0025142	Constitutional symptom	713	C1QB	OMIM:620321
HP:0025142	Constitutional symptom	1301	COL11A1	ORPHA:560
HP:0025142	Constitutional symptom	23495	TNFRSF13B	ORPHA:1572
HP:0025142	Constitutional symptom	4790	NFKB1	ORPHA:1572
HP:0025142	Constitutional symptom	115650	TNFRSF13C	ORPHA:1572
HP:0025142	Constitutional symptom	8742	TNFSF12	ORPHA:1572
HP:0025142	Constitutional symptom	930	CD19	ORPHA:1572
HP:0025142	Constitutional symptom	29851	ICOS	ORPHA:1572
HP:0025142	Constitutional symptom	931	MS4A1	ORPHA:1572
HP:0025142	Constitutional symptom	975	CD81	ORPHA:1572
HP:0025142	Constitutional symptom	975	CD81	OMIM:613496
HP:0025142	Constitutional symptom	6424	SFRP4	OMIM:265900
HP:0025142	Constitutional symptom	716	C1S	OMIM:617174
HP:0025142	Constitutional symptom	55325	UFSP2	OMIM:617974
HP:0025142	Constitutional symptom	91461	PKDCC	OMIM:618821
HP:0025142	Constitutional symptom	65992	DDRGK1	ORPHA:93352
HP:0025142	Constitutional symptom	1314	COPA	OMIM:616414
HP:0025142	Constitutional symptom	3557	IL1RN	OMIM:612852
HP:0025142	Constitutional symptom	4148	MATN3	OMIM:607078
HP:0025142	Constitutional symptom	50515	CHST11	OMIM:618167
HP:0025142	Constitutional symptom	51371	POMP	OMIM:618048
HP:0025142	Constitutional symptom	6609	SMPD1	OMIM:607616
HP:0025142	Constitutional symptom	118429	ANTXR2	OMIM:228600
HP:0025142	Constitutional symptom	1291	COL6A1	OMIM:158810
HP:0025142	Constitutional symptom	1235	CCR6	ORPHA:220393
HP:0025142	Constitutional symptom	1490	CCN2	ORPHA:220393
HP:0025142	Constitutional symptom	857	CAV1	ORPHA:220393
HP:0025142	Constitutional symptom	9935	MAFB	OMIM:166300
HP:0025142	Constitutional symptom	54829	ASPN	OMIM:607850
HP:0025142	Constitutional symptom	4982	TNFRSF11B	ORPHA:1416
HP:0025142	Constitutional symptom	56172	ANKH	ORPHA:1416
HP:0025142	Constitutional symptom	374654	KIF7	ORPHA:166024
HP:0025142	Constitutional symptom	60684	TRAPPC11	OMIM:615356
HP:0025142	Constitutional symptom	60684	TRAPPC11	ORPHA:369840
HP:0025142	Constitutional symptom	60684	TRAPPC11	ORPHA:369847
HP:0025142	Constitutional symptom	729920	CRPPA	ORPHA:352479
HP:0025142	Constitutional symptom	729920	CRPPA	ORPHA:370980
HP:0025142	Constitutional symptom	79147	FKRP	OMIM:607155
HP:0025142	Constitutional symptom	79147	FKRP	OMIM:606612
HP:0025142	Constitutional symptom	79147	FKRP	ORPHA:370980
HP:0025142	Constitutional symptom	55034	MOCOS	OMIM:603592
HP:0025142	Constitutional symptom	1340	COX6B1	OMIM:619051
HP:0025142	Constitutional symptom	55154	MSTO1	OMIM:617675
HP:0025142	Constitutional symptom	55154	MSTO1	ORPHA:502423
HP:0025142	Constitutional symptom	5468	PPARG	ORPHA:79083
HP:0025142	Constitutional symptom	9499	MYOT	OMIM:609200
HP:0025142	Constitutional symptom	2332	FMR1	ORPHA:93256
HP:0025142	Constitutional symptom	2332	FMR1	OMIM:300623
HP:0025142	Constitutional symptom	11107	PRDM5	OMIM:614170
HP:0025142	Constitutional symptom	11107	PRDM5	ORPHA:90354
HP:0025142	Constitutional symptom	844	CASQ1	OMIM:616231
HP:0025142	Constitutional symptom	844	CASQ1	ORPHA:2593
HP:0025142	Constitutional symptom	54	ACP5	ORPHA:1855
HP:0025142	Constitutional symptom	7840	ALMS1	ORPHA:64
HP:0025142	Constitutional symptom	1180	CLCN1	OMIM:255700
HP:0025142	Constitutional symptom	1180	CLCN1	OMIM:160800
HP:0025142	Constitutional symptom	1180	CLCN1	ORPHA:614
HP:0025142	Constitutional symptom	23175	LPIN1	OMIM:268200
HP:0025142	Constitutional symptom	11128	POLR3A	ORPHA:3455
HP:0025142	Constitutional symptom	84627	ZNF469	ORPHA:90354
HP:0025142	Constitutional symptom	270	AMPD1	ORPHA:45
HP:0025142	Constitutional symptom	272	AMPD3	ORPHA:45
HP:0025142	Constitutional symptom	487	ATP2A1	OMIM:601003
HP:0025142	Constitutional symptom	84876	ORAI1	ORPHA:2593
HP:0025142	Constitutional symptom	6786	STIM1	ORPHA:2593
HP:0025142	Constitutional symptom	6786	STIM1	OMIM:185070
HP:0025142	Constitutional symptom	3339	HSPG2	ORPHA:800
HP:0025142	Constitutional symptom	226	ALDOA	ORPHA:57
HP:0025142	Constitutional symptom	79628	SH3TC2	ORPHA:99949
HP:0025142	Constitutional symptom	4001	LMNB1	ORPHA:99027
HP:0025142	Constitutional symptom	5888	RAD51	ORPHA:238722
HP:0025142	Constitutional symptom	10126	DNAL4	ORPHA:238722
HP:0025142	Constitutional symptom	9423	NTN1	ORPHA:238722
HP:0025142	Constitutional symptom	1630	DCC	ORPHA:238722
HP:0025142	Constitutional symptom	10049	DNAJB6	OMIM:603511
HP:0025142	Constitutional symptom	2710	GK	OMIM:307030
HP:0025142	Constitutional symptom	64856	VWA1	OMIM:619216
HP:0025142	Constitutional symptom	825	CAPN3	OMIM:618129
HP:0025142	Constitutional symptom	1312	COMT	ORPHA:567
HP:0025142	Constitutional symptom	221037	JMJD1C	ORPHA:567
HP:0025142	Constitutional symptom	2812	GP1BB	ORPHA:567
HP:0025142	Constitutional symptom	6239	RREB1	ORPHA:567
HP:0025142	Constitutional symptom	6899	TBX1	ORPHA:567
HP:0025142	Constitutional symptom	7290	HIRA	ORPHA:567
HP:0025142	Constitutional symptom	9632	SEC24C	ORPHA:567
HP:0025142	Constitutional symptom	7353	UFD1	ORPHA:567
HP:0025142	Constitutional symptom	421	ARVCF	ORPHA:567
HP:0025142	Constitutional symptom	4547	MTTP	ORPHA:14
HP:0025142	Constitutional symptom	112812	FDX2	OMIM:251900
HP:0025142	Constitutional symptom	29967	LRP12	OMIM:620452
HP:0025142	Constitutional symptom	84842	HPDL	OMIM:619027
HP:0025142	Constitutional symptom	3156	HMGCR	OMIM:620375
HP:0025142	Constitutional symptom	203859	ANO5	OMIM:611307
HP:0025142	Constitutional symptom	203859	ANO5	ORPHA:206549
HP:0025142	Constitutional symptom	5654	HTRA1	ORPHA:199354
HP:0025142	Constitutional symptom	579	NKX3-2	OMIM:613330
HP:0025142	Constitutional symptom	4010	LMX1B	ORPHA:2614
HP:0025142	Constitutional symptom	4010	LMX1B	OMIM:161200
HP:0025142	Constitutional symptom	84231	TRAF7	ORPHA:2495
HP:0025142	Constitutional symptom	51684	SUFU	ORPHA:2495
HP:0025142	Constitutional symptom	6605	SMARCE1	ORPHA:2495
HP:0025142	Constitutional symptom	145873	MESP2	OMIM:277300
HP:0025142	Constitutional symptom	10683	DLL3	OMIM:277300
HP:0025142	Constitutional symptom	81839	VANGL1	OMIM:600145
HP:0025142	Constitutional symptom	9096	TBX18	OMIM:143400
HP:0025142	Constitutional symptom	2313	FLI1	ORPHA:370348
HP:0025142	Constitutional symptom	9897	WASHC5	OMIM:603563
HP:0025142	Constitutional symptom	6683	SPAST	OMIM:182601
HP:0025142	Constitutional symptom	4803	NGF	OMIM:608654
HP:0025142	Constitutional symptom	6911	TBX6	OMIM:122600
HP:0025142	Constitutional symptom	2639	GCDH	ORPHA:25
HP:0025142	Constitutional symptom	291	SLC25A4	ORPHA:254892
HP:0025142	Constitutional symptom	291	SLC25A4	OMIM:609283
HP:0025142	Constitutional symptom	291	SLC25A4	OMIM:615418
HP:0025142	Constitutional symptom	5428	POLG	ORPHA:254892
HP:0025142	Constitutional symptom	5428	POLG	OMIM:258450
HP:0025142	Constitutional symptom	5428	POLG	ORPHA:254886
HP:0025142	Constitutional symptom	5428	POLG	OMIM:157640
HP:0025142	Constitutional symptom	5428	POLG	OMIM:607459
HP:0025142	Constitutional symptom	56652	TWNK	ORPHA:254892
HP:0025142	Constitutional symptom	56652	TWNK	OMIM:609286
HP:0025142	Constitutional symptom	56652	TWNK	OMIM:607459
HP:0025142	Constitutional symptom	11232	POLG2	ORPHA:254892
HP:0025142	Constitutional symptom	11232	POLG2	OMIM:610131
HP:0025142	Constitutional symptom	50484	RRM2B	ORPHA:254892
HP:0025142	Constitutional symptom	50484	RRM2B	ORPHA:329336
HP:0025142	Constitutional symptom	50484	RRM2B	OMIM:613077
HP:0025142	Constitutional symptom	50484	RRM2B	ORPHA:480
HP:0025142	Constitutional symptom	4558	MT-TF	ORPHA:550
HP:0025142	Constitutional symptom	4572	MT-TQ	ORPHA:550
HP:0025142	Constitutional symptom	4512	MT-CO1	ORPHA:550
HP:0025142	Constitutional symptom	4513	MT-CO2	ORPHA:550
HP:0025142	Constitutional symptom	4514	MT-CO3	ORPHA:550
HP:0025142	Constitutional symptom	4578	MT-TW	ORPHA:550
HP:0025142	Constitutional symptom	4540	MT-ND5	ORPHA:550
HP:0025142	Constitutional symptom	4541	MT-ND6	ORPHA:550
HP:0025142	Constitutional symptom	4535	MT-ND1	ORPHA:550
HP:0025142	Constitutional symptom	4538	MT-ND4	ORPHA:550
HP:0025142	Constitutional symptom	4567	MT-TL1	ORPHA:550
HP:0025142	Constitutional symptom	4567	MT-TL1	ORPHA:480
HP:0025142	Constitutional symptom	4574	MT-TS1	ORPHA:550
HP:0025142	Constitutional symptom	4574	MT-TS1	OMIM:220110
HP:0025142	Constitutional symptom	4575	MT-TS2	ORPHA:550
HP:0025142	Constitutional symptom	4564	MT-TH	ORPHA:550
HP:0025142	Constitutional symptom	3094	HINT1	ORPHA:324442
HP:0025142	Constitutional symptom	4570	MT-TN	OMIM:220110
HP:0025142	Constitutional symptom	6834	SURF1	OMIM:220110
HP:0025142	Constitutional symptom	29925	GMPPB	OMIM:615352
HP:0025142	Constitutional symptom	29925	GMPPB	ORPHA:363623
HP:0025142	Constitutional symptom	80308	FLAD1	OMIM:255100
HP:0025142	Constitutional symptom	246243	RNASEH1	ORPHA:329336
HP:0025142	Constitutional symptom	246243	RNASEH1	OMIM:616479
HP:0025142	Constitutional symptom	1305	COL13A1	OMIM:616720
HP:0025142	Constitutional symptom	400916	CHCHD10	OMIM:616209
HP:0025142	Constitutional symptom	400916	CHCHD10	ORPHA:457050
HP:0025142	Constitutional symptom	2997	GYS1	OMIM:611556
HP:0025142	Constitutional symptom	345895	RSPH4A	OMIM:612649
HP:0025142	Constitutional symptom	7084	TK2	ORPHA:254886
HP:0025142	Constitutional symptom	7084	TK2	ORPHA:254875
HP:0025142	Constitutional symptom	92667	MGME1	OMIM:615084
HP:0025142	Constitutional symptom	92667	MGME1	ORPHA:352447
HP:0025142	Constitutional symptom	56997	COQ8A	ORPHA:139485
HP:0025142	Constitutional symptom	56997	COQ8A	OMIM:612016
HP:0025142	Constitutional symptom	221421	RSPH9	OMIM:612650
HP:0025142	Constitutional symptom	3939	LDHA	OMIM:612933
HP:0025142	Constitutional symptom	2027	ENO3	OMIM:612932
HP:0025142	Constitutional symptom	3753	KCNE1	ORPHA:334
HP:0025142	Constitutional symptom	2702	GJA5	ORPHA:334
HP:0025142	Constitutional symptom	3760	KCNJ3	ORPHA:334
HP:0025142	Constitutional symptom	3762	KCNJ5	ORPHA:334
HP:0025142	Constitutional symptom	4635	MYL4	ORPHA:334
HP:0025142	Constitutional symptom	1482	NKX2-5	ORPHA:334
HP:0025142	Constitutional symptom	1482	NKX2-5	ORPHA:99103
HP:0025142	Constitutional symptom	10060	ABCC9	ORPHA:334
HP:0025142	Constitutional symptom	137814	NKX2-6	ORPHA:334
HP:0025142	Constitutional symptom	4878	NPPA	ORPHA:334
HP:0025142	Constitutional symptom	55800	SCN3B	ORPHA:334
HP:0025142	Constitutional symptom	9992	KCNE2	ORPHA:334
HP:0025142	Constitutional symptom	2626	GATA4	ORPHA:334
HP:0025142	Constitutional symptom	2626	GATA4	ORPHA:99103
HP:0025142	Constitutional symptom	2627	GATA6	ORPHA:334
HP:0025142	Constitutional symptom	2627	GATA6	ORPHA:99103
HP:0025142	Constitutional symptom	5308	PITX2	ORPHA:334
HP:0025142	Constitutional symptom	6327	SCN2B	ORPHA:334
HP:0025142	Constitutional symptom	140628	GATA5	ORPHA:334
HP:0025142	Constitutional symptom	3759	KCNJ2	ORPHA:334
HP:0025142	Constitutional symptom	3784	KCNQ1	ORPHA:334
HP:0025142	Constitutional symptom	6324	SCN1B	ORPHA:334
HP:0025142	Constitutional symptom	6330	SCN4B	ORPHA:334
HP:0025142	Constitutional symptom	3741	KCNA5	ORPHA:334
HP:0025142	Constitutional symptom	7273	TTN	ORPHA:334
HP:0025142	Constitutional symptom	9631	NUP155	ORPHA:334
HP:0025142	Constitutional symptom	28958	COA3	OMIM:619058
HP:0025142	Constitutional symptom	4509	MT-ATP8	ORPHA:254913
HP:0025142	Constitutional symptom	4509	MT-ATP8	ORPHA:480
HP:0025142	Constitutional symptom	514	ATP5F1E	ORPHA:254913
HP:0025142	Constitutional symptom	513	ATP5F1D	ORPHA:254913
HP:0025142	Constitutional symptom	513	ATP5F1D	OMIM:618120
HP:0025142	Constitutional symptom	498	ATP5F1A	ORPHA:254913
HP:0025142	Constitutional symptom	4508	MT-ATP6	ORPHA:254913
HP:0025142	Constitutional symptom	84833	ATP5MK	ORPHA:254913
HP:0025142	Constitutional symptom	91647	ATPAF2	ORPHA:254913
HP:0025142	Constitutional symptom	51116	MRPS2	OMIM:617950
HP:0025142	Constitutional symptom	4358	MPV17	OMIM:256810
HP:0025142	Constitutional symptom	5837	PYGM	OMIM:232600
HP:0025142	Constitutional symptom	5837	PYGM	ORPHA:368
HP:0025142	Constitutional symptom	708	C1QBP	OMIM:617713
HP:0025142	Constitutional symptom	5257	PHKB	ORPHA:79240
HP:0025142	Constitutional symptom	6440	SFTPC	ORPHA:2032
HP:0025142	Constitutional symptom	729238	SFTPA2	ORPHA:2032
HP:0025142	Constitutional symptom	79991	STN1	ORPHA:2032
HP:0025142	Constitutional symptom	653509	SFTPA1	ORPHA:2032
HP:0025142	Constitutional symptom	21	ABCA3	ORPHA:2032
HP:0025142	Constitutional symptom	1832	DSP	ORPHA:2032
HP:0025142	Constitutional symptom	727897	MUC5B	ORPHA:2032
HP:0025142	Constitutional symptom	10144	FAM13A	ORPHA:2032
HP:0025142	Constitutional symptom	23250	ATP11A	ORPHA:2032
HP:0025142	Constitutional symptom	91039	DPP9	ORPHA:2032
HP:0025142	Constitutional symptom	51750	RTEL1	ORPHA:2032
HP:0025142	Constitutional symptom	7012	TERC	ORPHA:2032
HP:0025142	Constitutional symptom	5073	PARN	ORPHA:2032
HP:0025142	Constitutional symptom	7015	TERT	ORPHA:2032
HP:0025142	Constitutional symptom	55750	AGK	OMIM:212350
HP:0025142	Constitutional symptom	2717	GLA	ORPHA:324
HP:0025142	Constitutional symptom	4566	MT-TK	ORPHA:1349
HP:0025142	Constitutional symptom	2035	EPB41	ORPHA:288
HP:0025142	Constitutional symptom	2995	GYPC	ORPHA:288
HP:0025142	Constitutional symptom	6710	SPTB	ORPHA:288
HP:0025142	Constitutional symptom	6708	SPTA1	ORPHA:288
HP:0025142	Constitutional symptom	80324	PUS1	OMIM:600462
HP:0025142	Constitutional symptom	55863	TMEM126B	OMIM:618250
HP:0025142	Constitutional symptom	5224	PGAM2	OMIM:261670
HP:0025142	Constitutional symptom	7156	TOP3A	OMIM:618098
HP:0025142	Constitutional symptom	390594	KBTBD13	OMIM:609273
HP:0025142	Constitutional symptom	390594	KBTBD13	ORPHA:171439
HP:0025142	Constitutional symptom	5255	PHKA1	ORPHA:715
HP:0025142	Constitutional symptom	5255	PHKA1	OMIM:300559
HP:0025142	Constitutional symptom	5260	PHKG1	ORPHA:715
HP:0025142	Constitutional symptom	1756	DMD	ORPHA:98895
HP:0025142	Constitutional symptom	10370	CITED2	ORPHA:99105
HP:0025142	Constitutional symptom	10370	CITED2	ORPHA:99103
HP:0025142	Constitutional symptom	7092	TLL1	ORPHA:99106
HP:0025142	Constitutional symptom	7092	TLL1	ORPHA:99103
HP:0025142	Constitutional symptom	57057	TBX20	ORPHA:99103
HP:0025142	Constitutional symptom	70	ACTC1	ORPHA:99103
HP:0025142	Constitutional symptom	1763	DNA2	OMIM:615156
HP:0025142	Constitutional symptom	2548	GAA	OMIM:232300
HP:0025142	Constitutional symptom	4519	MT-CYB	ORPHA:137675
HP:0025142	Constitutional symptom	3032	HADHB	ORPHA:746
HP:0025142	Constitutional symptom	10056	FARSB	OMIM:613658
HP:0025142	Constitutional symptom	8659	ALDH4A1	ORPHA:79101
HP:0025142	Constitutional symptom	63895	PIEZO2	OMIM:108145
HP:0025142	Constitutional symptom	1303	COL12A1	ORPHA:536516
HP:0025142	Constitutional symptom	57570	TRMT5	OMIM:616539
HP:0025142	Constitutional symptom	11149	POPDC1	OMIM:616812
HP:0025142	Constitutional symptom	28976	ACAD9	OMIM:611126
HP:0025142	Constitutional symptom	6901	TAFAZZIN	OMIM:302060
HP:0025142	Constitutional symptom	84033	OBSCN	OMIM:620235
HP:0025142	Constitutional symptom	617	BCS1L	OMIM:124000
HP:0025142	Constitutional symptom	57104	PNPLA2	OMIM:610717
HP:0025142	Constitutional symptom	3920	LAMP2	OMIM:300257
HP:0025142	Constitutional symptom	5230	PGK1	OMIM:300653
HP:0025142	Constitutional symptom	2193	FARSA	OMIM:619013
HP:0025142	Constitutional symptom	6572	SLC18A3	OMIM:617239
HP:0025142	Constitutional symptom	4724	NDUFS4	OMIM:252010
HP:0025142	Constitutional symptom	5213	PFKM	OMIM:232800
HP:0025142	Constitutional symptom	5236	PGM1	OMIM:614921
HP:0025142	Constitutional symptom	84665	MYPN	ORPHA:171439
HP:0025142	Constitutional symptom	58	ACTA1	ORPHA:171439
HP:0025142	Constitutional symptom	7169	TPM2	ORPHA:171439
HP:0025142	Constitutional symptom	4703	NEB	ORPHA:171439
HP:0025142	Constitutional symptom	10324	KLHL41	ORPHA:171439
HP:0025142	Constitutional symptom	7170	TPM3	ORPHA:171439
HP:0025142	Constitutional symptom	5430	POLR2A	OMIM:618603
HP:0025142	Constitutional symptom	1376	CPT2	ORPHA:228302
HP:0025142	Constitutional symptom	1376	CPT2	ORPHA:228305
HP:0025142	Constitutional symptom	4556	MT-TE	ORPHA:2596
HP:0025142	Constitutional symptom	23479	ISCU	OMIM:255125
HP:0025142	Constitutional symptom	6389	SDHA	OMIM:252011
HP:0025142	Constitutional symptom	124093	CCDC78	OMIM:614807
HP:0025142	Constitutional symptom	51067	YARS2	OMIM:613561
HP:0025142	Constitutional symptom	5256	PHKA2	ORPHA:264580
HP:0025142	Constitutional symptom	5261	PHKG2	ORPHA:264580
HP:0025142	Constitutional symptom	125170	MIEF2	OMIM:619024
HP:0025142	Constitutional symptom	284119	CAVIN1	OMIM:613327
HP:0025142	Constitutional symptom	90523	MLIP	OMIM:620138
HP:0025142	Constitutional symptom	81034	SLC25A32	OMIM:616839
HP:0025142	Constitutional symptom	22954	TRIM32	OMIM:254110
HP:0025142	Constitutional symptom	274	BIN1	ORPHA:169189
HP:0025142	Constitutional symptom	64419	MTMR14	ORPHA:169189
HP:0025142	Constitutional symptom	4618	MYF6	ORPHA:169189
HP:0025142	Constitutional symptom	1785	DNM2	ORPHA:169189
HP:0025142	Constitutional symptom	27145	FILIP1	OMIM:620775
HP:0025142	Constitutional symptom	284439	SLC25A42	OMIM:618416
HP:0025142	Constitutional symptom	10861	SLC26A1	OMIM:620372
HP:0025142	Constitutional symptom	8575	PRKRA	OMIM:612067
HP:0025142	Constitutional symptom	2335	FN1	ORPHA:93315
HP:0025142	Constitutional symptom	10558	SPTLC1	ORPHA:36386
HP:0025142	Constitutional symptom	25923	ATL3	ORPHA:36386
HP:0025142	Constitutional symptom	9517	SPTLC2	ORPHA:36386
HP:0025142	Constitutional symptom	51062	ATL1	ORPHA:36386
HP:0025142	Constitutional symptom	8694	DGAT1	OMIM:615863
HP:0025142	Constitutional symptom	1374	CPT1A	ORPHA:156
HP:0025142	Constitutional symptom	26191	PTPN22	ORPHA:397
HP:0025142	Constitutional symptom	26191	PTPN22	ORPHA:900
HP:0025142	Constitutional symptom	26191	PTPN22	OMIM:180300
HP:0025142	Constitutional symptom	26191	PTPN22	ORPHA:536
HP:0025142	Constitutional symptom	3106	HLA-B	ORPHA:397
HP:0025142	Constitutional symptom	3106	HLA-B	ORPHA:117
HP:0025142	Constitutional symptom	3106	HLA-B	ORPHA:36426
HP:0025142	Constitutional symptom	3106	HLA-B	ORPHA:3287
HP:0025142	Constitutional symptom	3123	HLA-DRB1	ORPHA:397
HP:0025142	Constitutional symptom	3123	HLA-DRB1	ORPHA:545
HP:0025142	Constitutional symptom	3123	HLA-DRB1	ORPHA:536
HP:0025142	Constitutional symptom	3123	HLA-DRB1	ORPHA:797
HP:0025142	Constitutional symptom	3123	HLA-DRB1	ORPHA:747
HP:0025142	Constitutional symptom	8974	P4HA2	ORPHA:397
HP:0025142	Constitutional symptom	10486	CAP2	ORPHA:154
HP:0025142	Constitutional symptom	7716	VEZF1	ORPHA:154
HP:0025142	Constitutional symptom	7168	TPM1	ORPHA:154
HP:0025142	Constitutional symptom	27063	ANKRD1	ORPHA:154
HP:0025142	Constitutional symptom	1410	CRYAB	ORPHA:154
HP:0025142	Constitutional symptom	439	GET3	ORPHA:154
HP:0025142	Constitutional symptom	5350	PLN	ORPHA:154
HP:0025142	Constitutional symptom	5664	PSEN2	ORPHA:154
HP:0025142	Constitutional symptom	9529	BAG5	ORPHA:154
HP:0025142	Constitutional symptom	4607	MYBPC3	ORPHA:154
HP:0025142	Constitutional symptom	11155	LDB3	ORPHA:154
HP:0025142	Constitutional symptom	2274	FHL2	ORPHA:154
HP:0025142	Constitutional symptom	1674	DES	ORPHA:154
HP:0025142	Constitutional symptom	442721	LMOD2	ORPHA:154
HP:0025142	Constitutional symptom	8557	TCAP	ORPHA:154
HP:0025142	Constitutional symptom	57158	JPH2	ORPHA:154
HP:0025142	Constitutional symptom	9015	TAF1A	ORPHA:154
HP:0025142	Constitutional symptom	5663	PSEN1	ORPHA:154
HP:0025142	Constitutional symptom	7112	TMPO	ORPHA:154
HP:0025142	Constitutional symptom	9464	HAND2	ORPHA:154
HP:0025142	Constitutional symptom	88	ACTN2	ORPHA:154
HP:0025142	Constitutional symptom	7414	VCL	ORPHA:154
HP:0025142	Constitutional symptom	6123	RPL3L	ORPHA:154
HP:0025142	Constitutional symptom	8048	CSRP3	ORPHA:154
HP:0025142	Constitutional symptom	4000	LMNA	ORPHA:154
HP:0025142	Constitutional symptom	4000	LMNA	OMIM:181350
HP:0025142	Constitutional symptom	7139	TNNT2	ORPHA:154
HP:0025142	Constitutional symptom	1829	DSG2	ORPHA:154
HP:0025142	Constitutional symptom	3910	LAMA4	ORPHA:154
HP:0025142	Constitutional symptom	63976	PRDM16	ORPHA:154
HP:0025142	Constitutional symptom	10587	TXNRD2	ORPHA:154
HP:0025142	Constitutional symptom	9531	BAG3	ORPHA:154
HP:0025142	Constitutional symptom	91624	NEXN	ORPHA:154
HP:0025142	Constitutional symptom	79717	PPCS	ORPHA:154
HP:0025142	Constitutional symptom	282996	RBM20	ORPHA:154
HP:0025142	Constitutional symptom	7137	TNNI3	ORPHA:154
HP:0025142	Constitutional symptom	22845	DOLK	ORPHA:154
HP:0025142	Constitutional symptom	5894	RAF1	ORPHA:154
HP:0025142	Constitutional symptom	57798	GATAD1	ORPHA:154
HP:0025142	Constitutional symptom	7134	TNNC1	ORPHA:154
HP:0025142	Constitutional symptom	6444	SGCD	ORPHA:154
HP:0025142	Constitutional symptom	2218	FKTN	ORPHA:154
HP:0025142	Constitutional symptom	4791	NFKB2	ORPHA:293978
HP:0025142	Constitutional symptom	7428	VHL	OMIM:263400
HP:0025142	Constitutional symptom	7428	VHL	ORPHA:276621
HP:0025142	Constitutional symptom	7428	VHL	ORPHA:29072
HP:0025142	Constitutional symptom	8106	PABPN1	ORPHA:270
HP:0025142	Constitutional symptom	5913	RAPSN	OMIM:616326
HP:0025142	Constitutional symptom	7148	TNXB	ORPHA:230839
HP:0025142	Constitutional symptom	10973	ASCC3	OMIM:620700
HP:0025142	Constitutional symptom	3815	KIT	ORPHA:98849
HP:0025142	Constitutional symptom	3815	KIT	ORPHA:44890
HP:0025142	Constitutional symptom	8291	DYSF	OMIM:253601
HP:0025142	Constitutional symptom	7068	THRB	OMIM:274300
HP:0025142	Constitutional symptom	4072	EPCAM	ORPHA:144
HP:0025142	Constitutional symptom	4292	MLH1	ORPHA:144
HP:0025142	Constitutional symptom	5395	PMS2	ORPHA:144
HP:0025142	Constitutional symptom	7048	TGFBR2	ORPHA:144
HP:0025142	Constitutional symptom	3845	KRAS	ORPHA:144
HP:0025142	Constitutional symptom	5290	PIK3CA	ORPHA:144
HP:0025142	Constitutional symptom	2956	MSH6	ORPHA:144
HP:0025142	Constitutional symptom	5378	PMS1	ORPHA:144
HP:0025142	Constitutional symptom	4436	MSH2	ORPHA:144
HP:0025142	Constitutional symptom	4233	MET	ORPHA:33402
HP:0025142	Constitutional symptom	1499	CTNNB1	ORPHA:33402
HP:0025142	Constitutional symptom	79577	CDC73	ORPHA:143
HP:0025142	Constitutional symptom	79577	CDC73	ORPHA:99880
HP:0025142	Constitutional symptom	1278	COL1A2	ORPHA:230851
HP:0025142	Constitutional symptom	64218	SEMA4A	ORPHA:440437
HP:0025142	Constitutional symptom	472	ATM	ORPHA:440437
HP:0025142	Constitutional symptom	472	ATM	ORPHA:52416
HP:0025142	Constitutional symptom	5426	POLE	ORPHA:440437
HP:0025142	Constitutional symptom	675	BRCA2	ORPHA:440437
HP:0025142	Constitutional symptom	675	BRCA2	ORPHA:70567
HP:0025142	Constitutional symptom	657	BMPR1A	ORPHA:440437
HP:0025142	Constitutional symptom	6224	RPS20	ORPHA:440437
HP:0025142	Constitutional symptom	4595	MUTYH	ORPHA:440437
HP:0025142	Constitutional symptom	5424	POLD1	ORPHA:440437
HP:0025142	Constitutional symptom	11200	CHEK2	ORPHA:440437
HP:0025142	Constitutional symptom	2670	GFAP	OMIM:203450
HP:0025142	Constitutional symptom	4221	MEN1	ORPHA:2965
HP:0025142	Constitutional symptom	4221	MEN1	ORPHA:97279
HP:0025142	Constitutional symptom	64072	CDH23	ORPHA:2965
HP:0025142	Constitutional symptom	64072	CDH23	ORPHA:91347
HP:0025142	Constitutional symptom	9049	AIP	ORPHA:2965
HP:0025142	Constitutional symptom	9049	AIP	ORPHA:963
HP:0025142	Constitutional symptom	2911	GRM1	OMIM:614831
HP:0025142	Constitutional symptom	24142	NAA80	OMIM:620830
HP:0025142	Constitutional symptom	30061	SLC40A1	OMIM:606069
HP:0025142	Constitutional symptom	23400	ATP13A2	ORPHA:314632
HP:0025142	Constitutional symptom	23400	ATP13A2	ORPHA:306674
HP:0025142	Constitutional symptom	23400	ATP13A2	OMIM:606693
HP:0025142	Constitutional symptom	7252	TSHB	ORPHA:90674
HP:0025142	Constitutional symptom	6005	RHAG	OMIM:185000
HP:0025142	Constitutional symptom	6772	STAT1	OMIM:614162
HP:0025142	Constitutional symptom	2859	GPR35	ORPHA:171
HP:0025142	Constitutional symptom	10507	SEMA4D	ORPHA:171
HP:0025142	Constitutional symptom	4485	MST1	ORPHA:171
HP:0025142	Constitutional symptom	6925	TCF4	ORPHA:171
HP:0025142	Constitutional symptom	54453	RIN2	OMIM:613075
HP:0025142	Constitutional symptom	114548	NLRP3	ORPHA:47045
HP:0025142	Constitutional symptom	114548	NLRP3	ORPHA:1451
HP:0025142	Constitutional symptom	114548	NLRP3	OMIM:120100
HP:0025142	Constitutional symptom	215	ABCD1	ORPHA:139399
HP:0025142	Constitutional symptom	146862	UNC45B	OMIM:619178
HP:0025142	Constitutional symptom	5979	RET	ORPHA:276621
HP:0025142	Constitutional symptom	5979	RET	ORPHA:29072
HP:0025142	Constitutional symptom	1788	DNMT3A	ORPHA:276621
HP:0025142	Constitutional symptom	2034	EPAS1	ORPHA:276621
HP:0025142	Constitutional symptom	6392	SDHD	ORPHA:276621
HP:0025142	Constitutional symptom	6392	SDHD	ORPHA:29072
HP:0025142	Constitutional symptom	6390	SDHB	ORPHA:276621
HP:0025142	Constitutional symptom	6390	SDHB	ORPHA:29072
HP:0025142	Constitutional symptom	6390	SDHB	ORPHA:44890
HP:0025142	Constitutional symptom	7555	CNBP	ORPHA:606
HP:0025142	Constitutional symptom	83550	GPR101	ORPHA:963
HP:0025142	Constitutional symptom	9217	VAPB	ORPHA:209335
HP:0025142	Constitutional symptom	9217	VAPB	ORPHA:803
HP:0025142	Constitutional symptom	1277	COL1A1	ORPHA:287
HP:0025142	Constitutional symptom	1289	COL5A1	ORPHA:287
HP:0025142	Constitutional symptom	1290	COL5A2	ORPHA:287
HP:0025142	Constitutional symptom	1175	AP2S1	OMIM:600740
HP:0025142	Constitutional symptom	57190	SELENON	ORPHA:2020
HP:0025142	Constitutional symptom	4633	MYL2	ORPHA:2020
HP:0025142	Constitutional symptom	3679	ITGA7	ORPHA:2020
HP:0025142	Constitutional symptom	9200	HACD1	ORPHA:2020
HP:0025142	Constitutional symptom	51776	MAP3K20	ORPHA:2020
HP:0025142	Constitutional symptom	5528	PPP2R5D	OMIM:616355
HP:0025142	Constitutional symptom	25942	SIN3A	OMIM:613406
HP:0025142	Constitutional symptom	10019	SH2B3	OMIM:133100
HP:0025142	Constitutional symptom	10019	SH2B3	ORPHA:3318
HP:0025142	Constitutional symptom	2057	EPOR	OMIM:133100
HP:0025142	Constitutional symptom	2057	EPOR	ORPHA:90042
HP:0025142	Constitutional symptom	1244	ABCC2	ORPHA:234
HP:0025142	Constitutional symptom	595	CCND1	ORPHA:52416
HP:0025142	Constitutional symptom	595	CCND1	ORPHA:29073
HP:0025142	Constitutional symptom	3492	IGH	ORPHA:52416
HP:0025142	Constitutional symptom	3492	IGH	ORPHA:52417
HP:0025142	Constitutional symptom	3492	IGH	ORPHA:545
HP:0025142	Constitutional symptom	1621	DBH	ORPHA:230
HP:0025142	Constitutional symptom	5251	PHEX	ORPHA:89936
HP:0025142	Constitutional symptom	330	BIRC3	ORPHA:52417
HP:0025142	Constitutional symptom	10892	MALT1	ORPHA:52417
HP:0025142	Constitutional symptom	27086	FOXP1	ORPHA:52417
HP:0025142	Constitutional symptom	8915	BCL10	ORPHA:52417
HP:0025142	Constitutional symptom	8074	FGF23	ORPHA:89937
HP:0025142	Constitutional symptom	213	ALB	OMIM:616000
HP:0025142	Constitutional symptom	213	ALB	ORPHA:86816
HP:0025142	Constitutional symptom	5626	PROP1	ORPHA:226307
HP:0025142	Constitutional symptom	5626	PROP1	ORPHA:95494
HP:0025142	Constitutional symptom	5626	PROP1	ORPHA:90695
HP:0025142	Constitutional symptom	89884	LHX4	ORPHA:226307
HP:0025142	Constitutional symptom	89884	LHX4	ORPHA:95494
HP:0025142	Constitutional symptom	8022	LHX3	ORPHA:226307
HP:0025142	Constitutional symptom	5449	POU1F1	ORPHA:226307
HP:0025142	Constitutional symptom	5449	POU1F1	ORPHA:95494
HP:0025142	Constitutional symptom	8820	HESX1	ORPHA:226307
HP:0025142	Constitutional symptom	8820	HESX1	ORPHA:95494
HP:0025142	Constitutional symptom	8820	HESX1	ORPHA:3157
HP:0025142	Constitutional symptom	10068	IL18BP	OMIM:618549
HP:0025142	Constitutional symptom	51604	PIGT	OMIM:615399
HP:0025142	Constitutional symptom	1743	DLST	ORPHA:29072
HP:0025142	Constitutional symptom	4191	MDH2	ORPHA:29072
HP:0025142	Constitutional symptom	23095	KIF1B	ORPHA:29072
HP:0025142	Constitutional symptom	2271	FH	ORPHA:29072
HP:0025142	Constitutional symptom	8402	SLC25A11	ORPHA:29072
HP:0025142	Constitutional symptom	54949	SDHAF2	ORPHA:29072
HP:0025142	Constitutional symptom	55654	TMEM127	ORPHA:29072
HP:0025142	Constitutional symptom	4763	NF1	ORPHA:29072
HP:0025142	Constitutional symptom	6391	SDHC	ORPHA:29072
HP:0025142	Constitutional symptom	6391	SDHC	ORPHA:44890
HP:0025142	Constitutional symptom	4149	MAX	ORPHA:29072
HP:0025142	Constitutional symptom	79798	ARMC5	OMIM:615954
HP:0025142	Constitutional symptom	7454	WAS	ORPHA:906
HP:0025142	Constitutional symptom	7456	WIPF1	ORPHA:906
HP:0025142	Constitutional symptom	81031	SLC2A10	ORPHA:3342
HP:0025142	Constitutional symptom	1493	CTLA4	ORPHA:900
HP:0025142	Constitutional symptom	1493	CTLA4	ORPHA:536
HP:0025142	Constitutional symptom	3115	HLA-DPB1	ORPHA:900
HP:0025142	Constitutional symptom	3115	HLA-DPB1	ORPHA:133
HP:0025142	Constitutional symptom	5657	PRTN3	ORPHA:900
HP:0025142	Constitutional symptom	3113	HLA-DPA1	ORPHA:900
HP:0025142	Constitutional symptom	6329	SCN4A	ORPHA:99734
HP:0025142	Constitutional symptom	6329	SCN4A	OMIM:620351
HP:0025142	Constitutional symptom	4210	MEFV	ORPHA:342
HP:0025142	Constitutional symptom	4210	MEFV	ORPHA:117
HP:0025142	Constitutional symptom	2736	GLI2	ORPHA:95494
HP:0025142	Constitutional symptom	3170	FOXA2	ORPHA:95494
HP:0025142	Constitutional symptom	5015	OTX2	ORPHA:95494
HP:0025142	Constitutional symptom	5015	OTX2	ORPHA:3157
HP:0025142	Constitutional symptom	130340	AP1S3	ORPHA:247353
HP:0025142	Constitutional symptom	26525	IL36RN	ORPHA:247353
HP:0025142	Constitutional symptom	2908	NR3C1	OMIM:615962
HP:0025142	Constitutional symptom	2908	NR3C1	ORPHA:786
HP:0025142	Constitutional symptom	4665	NAB2	ORPHA:2126
HP:0025142	Constitutional symptom	6778	STAT6	ORPHA:2126
HP:0025142	Constitutional symptom	866	SERPINA6	OMIM:611489
HP:0025142	Constitutional symptom	3662	IRF4	ORPHA:3452
HP:0025142	Constitutional symptom	9493	KIF23	ORPHA:98870
HP:0025142	Constitutional symptom	29127	RACGAP1	ORPHA:98870
HP:0025142	Constitutional symptom	695	BTK	ORPHA:47
HP:0025142	Constitutional symptom	5339	PLEC	ORPHA:257
HP:0025142	Constitutional symptom	34	ACADM	ORPHA:42
HP:0025142	Constitutional symptom	84868	HAVCR2	ORPHA:86884
HP:0025142	Constitutional symptom	162417	NAGS	ORPHA:927
HP:0025142	Constitutional symptom	654	BMP6	ORPHA:465508
HP:0025142	Constitutional symptom	3077	HFE	ORPHA:465508
HP:0025142	Constitutional symptom	3586	IL10	OMIM:180300
HP:0025142	Constitutional symptom	3586	IL10	ORPHA:117
HP:0025142	Constitutional symptom	3586	IL10	ORPHA:536
HP:0025142	Constitutional symptom	6583	SLC22A4	OMIM:180300
HP:0025142	Constitutional symptom	4261	CIITA	OMIM:180300
HP:0025142	Constitutional symptom	51744	CD244	OMIM:180300
HP:0025142	Constitutional symptom	4795	NFKBIL1	OMIM:180300
HP:0025142	Constitutional symptom	25978	CHMP2B	ORPHA:803
HP:0025142	Constitutional symptom	3178	HNRNPA1	ORPHA:803
HP:0025142	Constitutional symptom	8148	TAF15	ORPHA:803
HP:0025142	Constitutional symptom	5445	PON2	ORPHA:803
HP:0025142	Constitutional symptom	8878	SQSTM1	ORPHA:803
HP:0025142	Constitutional symptom	5630	PRPH	ORPHA:803
HP:0025142	Constitutional symptom	29110	TBK1	ORPHA:803
HP:0025142	Constitutional symptom	29110	TBK1	ORPHA:1930
HP:0025142	Constitutional symptom	55830	GLT8D1	ORPHA:803
HP:0025142	Constitutional symptom	755	CFAP410	ORPHA:803
HP:0025142	Constitutional symptom	10891	PPARGC1A	ORPHA:803
HP:0025142	Constitutional symptom	6647	SOD1	ORPHA:803
HP:0025142	Constitutional symptom	10133	OPTN	ORPHA:803
HP:0025142	Constitutional symptom	1639	DCTN1	ORPHA:803
HP:0025142	Constitutional symptom	9896	FIG4	ORPHA:803
HP:0025142	Constitutional symptom	5444	PON1	ORPHA:803
HP:0025142	Constitutional symptom	5446	PON3	ORPHA:803
HP:0025142	Constitutional symptom	4744	NEFH	ORPHA:803
HP:0025142	Constitutional symptom	5216	PFN1	ORPHA:803
HP:0025142	Constitutional symptom	9782	MATR3	ORPHA:803
HP:0025142	Constitutional symptom	54209	TREM2	ORPHA:803
HP:0025142	Constitutional symptom	7415	VCP	ORPHA:803
HP:0025142	Constitutional symptom	283	ANG	ORPHA:803
HP:0025142	Constitutional symptom	23435	TARDBP	ORPHA:803
HP:0025142	Constitutional symptom	29978	UBQLN2	ORPHA:803
HP:0025142	Constitutional symptom	2733	GLE1	ORPHA:803
HP:0025142	Constitutional symptom	2521	FUS	ORPHA:803
HP:0025142	Constitutional symptom	4750	NEK1	ORPHA:803
HP:0025142	Constitutional symptom	6311	ATXN2	ORPHA:803
HP:0025142	Constitutional symptom	1610	DAO	ORPHA:803
HP:0025142	Constitutional symptom	2066	ERBB4	ORPHA:803
HP:0025142	Constitutional symptom	311	ANXA11	ORPHA:803
HP:0025142	Constitutional symptom	23025	UNC13A	ORPHA:803
HP:0025142	Constitutional symptom	899	CCNF	ORPHA:803
HP:0025142	Constitutional symptom	3514	IGKC	ORPHA:183675
HP:0025142	Constitutional symptom	3501	IGHG2	ORPHA:183675
HP:0025142	Constitutional symptom	7201	TRHR	ORPHA:99832
HP:0025142	Constitutional symptom	7201	TRHR	OMIM:618573
HP:0025142	Constitutional symptom	4615	MYD88	ORPHA:33226
HP:0025142	Constitutional symptom	1186	CLCN7	ORPHA:53
HP:0025142	Constitutional symptom	2629	GBA1	ORPHA:77261
HP:0025142	Constitutional symptom	55023	PHIP	ORPHA:589905
HP:0025142	Constitutional symptom	10568	SLC34A2	ORPHA:60025
HP:0025142	Constitutional symptom	7157	TP53	ORPHA:3318
HP:0025142	Constitutional symptom	6658	SOX3	ORPHA:90695
HP:0025142	Constitutional symptom	6658	SOX3	ORPHA:3157
HP:0025142	Constitutional symptom	2068	ERCC2	ORPHA:910
HP:0025142	Constitutional symptom	7507	XPA	ORPHA:910
HP:0025142	Constitutional symptom	2071	ERCC3	ORPHA:910
HP:0025142	Constitutional symptom	7508	XPC	ORPHA:910
HP:0025142	Constitutional symptom	1643	DDB2	ORPHA:910
HP:0025142	Constitutional symptom	2072	ERCC4	ORPHA:910
HP:0025142	Constitutional symptom	2073	ERCC5	ORPHA:910
HP:0025142	Constitutional symptom	6929	TCF3	ORPHA:33110
HP:0025142	Constitutional symptom	7922	SLC39A7	ORPHA:33110
HP:0025142	Constitutional symptom	973	CD79A	ORPHA:33110
HP:0025142	Constitutional symptom	974	CD79B	ORPHA:33110
HP:0025142	Constitutional symptom	6688	SPI1	ORPHA:33110
HP:0025142	Constitutional symptom	3543	IGLL1	ORPHA:33110
HP:0025142	Constitutional symptom	3507	IGHM	ORPHA:33110
HP:0025142	Constitutional symptom	29760	BLNK	ORPHA:33110
HP:0025142	Constitutional symptom	5295	PIK3R1	ORPHA:33110
HP:0025142	Constitutional symptom	56262	LRRC8A	ORPHA:33110
HP:0025142	Constitutional symptom	149233	IL23R	ORPHA:117
HP:0025142	Constitutional symptom	6775	STAT4	ORPHA:117
HP:0025142	Constitutional symptom	6775	STAT4	ORPHA:536
HP:0025142	Constitutional symptom	1230	CCR1	ORPHA:117
HP:0025142	Constitutional symptom	355	FAS	ORPHA:117
HP:0025142	Constitutional symptom	3592	IL12A	ORPHA:117
HP:0025142	Constitutional symptom	3592	IL12A	ORPHA:186
HP:0025142	Constitutional symptom	101928376	IL12A-AS1	ORPHA:117
HP:0025142	Constitutional symptom	7099	TLR4	ORPHA:117
HP:0025142	Constitutional symptom	3459	IFNGR1	ORPHA:117
HP:0025142	Constitutional symptom	720	C4A	ORPHA:117
HP:0025142	Constitutional symptom	720	C4A	ORPHA:536
HP:0025142	Constitutional symptom	337867	UBAC2	ORPHA:117
HP:0025142	Constitutional symptom	51752	ERAP1	ORPHA:117
HP:0025142	Constitutional symptom	8302	KLRC4	ORPHA:117
HP:0025142	Constitutional symptom	7187	TRAF3	ORPHA:1930
HP:0025142	Constitutional symptom	81622	UNC93B1	ORPHA:1930
HP:0025142	Constitutional symptom	148022	TICAM1	ORPHA:1930
HP:0025142	Constitutional symptom	7098	TLR3	ORPHA:1930
HP:0025142	Constitutional symptom	3155	HMGCL	ORPHA:20
HP:0025142	Constitutional symptom	9842	PLEKHM1	OMIM:618107
HP:0025142	Constitutional symptom	6261	RYR1	ORPHA:466650
HP:0025142	Constitutional symptom	6571	SLC18A2	ORPHA:352649
HP:0025142	Constitutional symptom	6571	SLC18A2	OMIM:618049
HP:0025142	Constitutional symptom	596	BCL2	ORPHA:545
HP:0025142	Constitutional symptom	604	BCL6	ORPHA:545
HP:0025142	Constitutional symptom	58484	NLRC4	OMIM:616050
HP:0025142	Constitutional symptom	7317	UBA1	OMIM:301054
HP:0025142	Constitutional symptom	22880	MORC2	ORPHA:466768
HP:0025142	Constitutional symptom	672	BRCA1	ORPHA:70567
HP:0025142	Constitutional symptom	5774	PTPN3	ORPHA:70567
HP:0025142	Constitutional symptom	6098	ROS1	ORPHA:70567
HP:0025142	Constitutional symptom	59067	IL21	OMIM:615767
HP:0025142	Constitutional symptom	7248	TSC1	ORPHA:538
HP:0025142	Constitutional symptom	7249	TSC2	ORPHA:538
HP:0025142	Constitutional symptom	3930	LBR	ORPHA:779
HP:0025142	Constitutional symptom	1991	ELANE	ORPHA:2686
HP:0025142	Constitutional symptom	2215	FCGR3B	ORPHA:536
HP:0025142	Constitutional symptom	3684	ITGAM	ORPHA:536
HP:0025142	Constitutional symptom	221895	JAZF1	ORPHA:536
HP:0025142	Constitutional symptom	11277	TREX1	ORPHA:536
HP:0025142	Constitutional symptom	7292	TNFSF4	ORPHA:536
HP:0025142	Constitutional symptom	640	BLK	ORPHA:536
HP:0025142	Constitutional symptom	55024	BANK1	ORPHA:536
HP:0025142	Constitutional symptom	3500	IGHG1	ORPHA:536
HP:0025142	Constitutional symptom	3654	IRAK1	ORPHA:536
HP:0025142	Constitutional symptom	1380	CR2	ORPHA:536
HP:0025142	Constitutional symptom	5133	PDCD1	ORPHA:536
HP:0025142	Constitutional symptom	2113	ETS1	ORPHA:536
HP:0025142	Constitutional symptom	2213	FCGR2B	ORPHA:536
HP:0025142	Constitutional symptom	10318	TNIP1	ORPHA:536
HP:0025142	Constitutional symptom	7332	UBE2L3	ORPHA:536
HP:0025142	Constitutional symptom	79932	KIAA0319L	ORPHA:536
HP:0025142	Constitutional symptom	4204	MECP2	ORPHA:536
HP:0025142	Constitutional symptom	3663	IRF5	ORPHA:536
HP:0025142	Constitutional symptom	3663	IRF5	ORPHA:186
HP:0025142	Constitutional symptom	721	C4B	ORPHA:536
HP:0025142	Constitutional symptom	1773	DNASE1	ORPHA:536
HP:0025142	Constitutional symptom	51284	TLR7	ORPHA:536
HP:0025142	Constitutional symptom	6696	SPP1	ORPHA:536
HP:0025142	Constitutional symptom	54899	PXK	ORPHA:536
HP:0025142	Constitutional symptom	7128	TNFAIP3	ORPHA:536
HP:0025142	Constitutional symptom	7849	PAX8	ORPHA:95720
HP:0025142	Constitutional symptom	7849	PAX8	ORPHA:95713
HP:0025142	Constitutional symptom	7849	PAX8	ORPHA:95712
HP:0025142	Constitutional symptom	7253	TSHR	ORPHA:95720
HP:0025142	Constitutional symptom	7253	TSHR	ORPHA:95713
HP:0025142	Constitutional symptom	5172	SLC26A4	ORPHA:95720
HP:0025142	Constitutional symptom	5172	SLC26A4	ORPHA:95713
HP:0025142	Constitutional symptom	10059	DNM1L	ORPHA:98673
HP:0025142	Constitutional symptom	4976	OPA1	ORPHA:98673
HP:0025142	Constitutional symptom	4976	OPA1	ORPHA:1215
HP:0025142	Constitutional symptom	10320	IKZF1	ORPHA:36426
HP:0025142	Constitutional symptom	3039	HBA1	ORPHA:98791
HP:0025142	Constitutional symptom	3040	HBA2	ORPHA:98791
HP:0025142	Constitutional symptom	27235	COQ2	OMIM:607426
HP:0025142	Constitutional symptom	55240	STEAP3	ORPHA:300298
HP:0025142	Constitutional symptom	8867	SYNJ1	OMIM:615530
HP:0025142	Constitutional symptom	8867	SYNJ1	ORPHA:391411
HP:0025142	Constitutional symptom	79572	ATP13A3	OMIM:265400
HP:0025142	Constitutional symptom	7080	NKX2-1	ORPHA:95713
HP:0025142	Constitutional symptom	2304	FOXE1	ORPHA:95713
HP:0025142	Constitutional symptom	212	ALAS2	ORPHA:75563
HP:0025142	Constitutional symptom	538	ATP7A	ORPHA:565
HP:0025142	Constitutional symptom	3643	INSR	ORPHA:263458
HP:0025142	Constitutional symptom	3172	HNF4A	ORPHA:263455
HP:0025142	Constitutional symptom	546	ATRX	ORPHA:231401
HP:0025142	Constitutional symptom	146206	CARMIL2	OMIM:618131
HP:0025142	Constitutional symptom	55340	GIMAP5	OMIM:619463
HP:0025142	Constitutional symptom	190	NR0B1	ORPHA:95702
HP:0025142	Constitutional symptom	56244	BTNL2	ORPHA:797
HP:0025142	Constitutional symptom	84265	POLR3GL	OMIM:619234
HP:0025142	Constitutional symptom	55791	LRIF1	OMIM:619477
HP:0025142	Constitutional symptom	6711	SPTBN1	OMIM:619475
HP:0025142	Constitutional symptom	2643	GCH1	ORPHA:98808
HP:0025142	Constitutional symptom	4929	NR4A2	ORPHA:98808
HP:0025142	Constitutional symptom	3615	IMPDH2	ORPHA:98808
HP:0025142	Constitutional symptom	7528	YY1	ORPHA:97279
HP:0025142	Constitutional symptom	6476	SI	ORPHA:35122
HP:0025142	Constitutional symptom	7036	TFR2	OMIM:604250
HP:0025142	Constitutional symptom	9829	DNAJC6	ORPHA:391411
HP:0025142	Constitutional symptom	5420	PODXL	ORPHA:391411
HP:0025142	Constitutional symptom	1298	COL9A2	OMIM:600204
HP:0025142	Constitutional symptom	7204	TRIO	OMIM:617061
HP:0025142	Constitutional symptom	3594	IL12RB1	ORPHA:186
HP:0025142	Constitutional symptom	23534	TNPO3	ORPHA:186
HP:0025142	Constitutional symptom	6689	SPIB	ORPHA:186
HP:0025142	Constitutional symptom	5450	POU2AF1	ORPHA:186
HP:0025142	Constitutional symptom	9966	TNFSF15	ORPHA:186
HP:0025142	Constitutional symptom	79258	MMEL1	ORPHA:186
HP:0025142	Constitutional symptom	128240	NAXE	OMIM:617186
HP:0025142	Constitutional symptom	3075	CFH	ORPHA:244242
HP:0025142	Constitutional symptom	3426	CFI	ORPHA:244242
HP:0025142	Constitutional symptom	4179	CD46	ORPHA:244242
HP:0025142	Constitutional symptom	101101692	HELLPAR	ORPHA:244242
HP:0025142	Constitutional symptom	5294	PIK3CG	OMIM:619802
HP:0025142	Constitutional symptom	6519	SLC3A1	ORPHA:163690
HP:0025142	Constitutional symptom	9581	PREPL	ORPHA:163690
HP:0025142	Constitutional symptom	2645	GCK	ORPHA:79299
HP:0025142	Constitutional symptom	9095	TBX19	ORPHA:199296
HP:0025142	Constitutional symptom	9365	KL	OMIM:617994
HP:0025142	Constitutional symptom	5156	PDGFRA	ORPHA:44890
HP:0025142	Constitutional symptom	55624	POMGNT1	OMIM:613157
HP:0025142	Constitutional symptom	27249	MMADHC	ORPHA:79283
HP:0025142	Constitutional symptom	2624	GATA2	ORPHA:228423
HP:0025142	Constitutional symptom	6340	SCNN1G	ORPHA:526
HP:0025142	Constitutional symptom	6338	SCNN1B	ORPHA:526
HP:0025142	Constitutional symptom	6337	SCNN1A	ORPHA:526
HP:0025142	Constitutional symptom	3593	IL12B	ORPHA:3287
HP:0025142	Constitutional symptom	6945	MLX	ORPHA:3287
HP:0025142	Constitutional symptom	9203	ZMYM3	OMIM:301111
HP:0025142	Constitutional symptom	613	BCR	ORPHA:521
HP:0025142	Constitutional symptom	25	ABL1	ORPHA:521
HP:0025142	Constitutional symptom	6774	STAT3	ORPHA:520
HP:0025142	Constitutional symptom	5371	PML	ORPHA:520
HP:0025142	Constitutional symptom	5914	RARA	ORPHA:520
HP:0025142	Constitutional symptom	359948	IRF2BP2	ORPHA:520
HP:0025142	Constitutional symptom	81608	FIP1L1	ORPHA:520
HP:0025142	Constitutional symptom	4869	NPM1	ORPHA:520
HP:0025142	Constitutional symptom	5573	PRKAR1A	ORPHA:520
HP:0025142	Constitutional symptom	54880	BCOR	ORPHA:520
HP:0025142	Constitutional symptom	64859	NABP1	ORPHA:520
HP:0025142	Constitutional symptom	6777	STAT5B	ORPHA:520
HP:0025142	Constitutional symptom	4926	NUMA1	ORPHA:520
HP:0025142	Constitutional symptom	7704	ZBTB16	ORPHA:520
HP:0025142	Constitutional symptom	79718	TBL1XR1	ORPHA:520
HP:0025142	Constitutional symptom	23040	MYT1L	ORPHA:647799
HP:0025142	Constitutional symptom	3839	KPNA3	ORPHA:171612
HP:0025142	Constitutional symptom	2512	FTL	ORPHA:254704
HP:0025142	Constitutional symptom	115286	SLC25A26	OMIM:616794
HP:0025142	Constitutional symptom	341208	HEPHL1	OMIM:261990
HP:0025142	Constitutional symptom	9051	PSTPIP1	ORPHA:69126
HP:0025142	Constitutional symptom	6559	SLC12A3	OMIM:263800
HP:0025142	Constitutional symptom	2260	FGFR1	ORPHA:3157
HP:0025142	Constitutional symptom	128674	PROKR2	ORPHA:3157
HP:0025142	Constitutional symptom	6657	SOX2	ORPHA:3157
HP:0025142	Constitutional symptom	9915	ARNT2	ORPHA:3157
HP:0025142	Constitutional symptom	50640	PNPLA8	OMIM:251950
HP:0025142	Constitutional symptom	4067	LYN	OMIM:620376
HP:0025142	Constitutional symptom	4613	MYCN	ORPHA:635
HP:0025142	Constitutional symptom	238	ALK	ORPHA:635
HP:0025142	Constitutional symptom	389421	LIN28B	ORPHA:635
HP:0025142	Constitutional symptom	4004	LMO1	ORPHA:635
HP:0025142	Constitutional symptom	57531	HACE1	ORPHA:635
HP:0025142	Constitutional symptom	8929	PHOX2B	ORPHA:635
HP:0025142	Constitutional symptom	9780	PIEZO1	ORPHA:3202
HP:0025142	Constitutional symptom	3783	KCNN4	ORPHA:3202
HP:0025142	Constitutional symptom	165	AEBP1	OMIM:618000
HP:0025142	Constitutional symptom	10625	IVNS1ABP	OMIM:618969
HP:0025142	Constitutional symptom	4194	MDM4	OMIM:618849
HP:0025142	Constitutional symptom	4087	SMAD2	OMIM:619656
HP:0025142	Constitutional symptom	56246	MRAP	ORPHA:361
HP:0025142	Constitutional symptom	6770	STAR	ORPHA:361
HP:0025142	Constitutional symptom	4158	MC2R	ORPHA:361
HP:0025142	Constitutional symptom	23530	NNT	ORPHA:361
HP:0025142	Constitutional symptom	440275	EIF2AK4	OMIM:234810
HP:0025142	Constitutional symptom	285282	RABL3	ORPHA:1333
HP:0025142	Constitutional symptom	1029	CDKN2A	ORPHA:1333
HP:0025142	Constitutional symptom	79728	PALB2	ORPHA:1333
HP:0025142	Constitutional symptom	4089	SMAD4	ORPHA:1333
HP:0025142	Constitutional symptom	23022	PALLD	ORPHA:1333
HP:0025142	Constitutional symptom	7046	TGFBR1	OMIM:609192
HP:0025142	Constitutional symptom	5660	PSAP	OMIM:610539
HP:0025142	Constitutional symptom	3852	KRT5	ORPHA:79400
HP:0025142	Constitutional symptom	3861	KRT14	ORPHA:79400
HP:0025142	Constitutional symptom	9997	SCO2	OMIM:604377
HP:0025142	Constitutional symptom	6687	SPG7	ORPHA:99013
HP:0025142	Constitutional symptom	10613	ERLIN1	ORPHA:401785
HP:0025142	Constitutional symptom	4669	NAGLU	OMIM:616491
HP:0025142	Constitutional symptom	3868	KRT16	ORPHA:2309
HP:0025142	Constitutional symptom	3872	KRT17	ORPHA:2309
HP:0025142	Constitutional symptom	3853	KRT6A	ORPHA:2309
HP:0025142	Constitutional symptom	3854	KRT6B	ORPHA:2309
HP:0025142	Constitutional symptom	6335	SCN9A	OMIM:133020
HP:0025142	Constitutional symptom	3043	HBB	ORPHA:232
HP:0025142	Constitutional symptom	55768	NGLY1	OMIM:615273
HP:0025142	Constitutional symptom	80207	OPA3	ORPHA:67036
HP:0025142	Constitutional symptom	11280	SCN11A	OMIM:615552
HP:0025142	Constitutional symptom	9927	MFN2	OMIM:609260
HP:0025142	Constitutional symptom	83706	FERMT3	OMIM:612840
HP:0025142	Constitutional symptom	4035	LRP1	ORPHA:79100
HP:0025142	Constitutional symptom	5925	RB1	ORPHA:668
HP:0025142	Constitutional symptom	7373	COL14A1	ORPHA:79501
HP:0025142	Constitutional symptom	79719	AAGAB	ORPHA:79501
HP:0025142	Constitutional symptom	4311	MME	ORPHA:497764
HP:0025142	Constitutional symptom	79587	CARS2	ORPHA:477774
HP:0025142	Constitutional symptom	10229	COQ7	OMIM:616733
HP:0025142	Constitutional symptom	3035	HARS1	ORPHA:488333
HP:0025142	Constitutional symptom	5155	PDGFB	ORPHA:31112
HP:0025142	Constitutional symptom	3026	HABP2	ORPHA:319487
HP:0025142	Constitutional symptom	9562	MINPP1	ORPHA:319487
HP:0025142	Constitutional symptom	9630	GNA14	ORPHA:1063
HP:0025142	Constitutional symptom	339855	KY	ORPHA:496689
HP:0025142	Constitutional symptom	847	CAT	ORPHA:926
HP:0025142	Constitutional symptom	5921	RASA1	ORPHA:90307
HP:0025142	Constitutional symptom	5777	PTPN6	ORPHA:3243
HP:0025142	Constitutional symptom	8131	NPRL3	ORPHA:98820
HP:0025142	Constitutional symptom	10641	NPRL2	ORPHA:98820
HP:0025142	Constitutional symptom	9681	DEPDC5	ORPHA:98820
HP:0025142	Constitutional symptom	2131	EXT1	ORPHA:321
HP:0025142	Constitutional symptom	2132	EXT2	ORPHA:321
HP:0025142	Constitutional symptom	37	ACADVL	ORPHA:26793
HP:0025142	Constitutional symptom	779	CACNA1S	ORPHA:681
HP:0025142	Constitutional symptom	10008	KCNE3	ORPHA:681
HP:0025142	Constitutional symptom	51308	REEP2	ORPHA:401849
HP:0025142	Constitutional symptom	65998	ZFTA	ORPHA:251636
HP:0025142	Constitutional symptom	4771	NF2	ORPHA:93921
HP:0025142	Constitutional symptom	6598	SMARCB1	ORPHA:93921
HP:0025142	Constitutional symptom	51004	COQ6	ORPHA:93921
HP:0025142	Constitutional symptom	8216	LZTR1	ORPHA:93921
HP:0025142	Constitutional symptom	26834	RNU4-2	OMIM:620851
HP:0025142	Constitutional symptom	112817	HOGA1	ORPHA:93600
HP:0025142	Constitutional symptom	1513	CTSK	ORPHA:763
HP:0025142	Constitutional symptom	4312	MMP1	ORPHA:79408
HP:0025142	Constitutional symptom	1294	COL7A1	ORPHA:79408
HP:0025142	Constitutional symptom	4287	ATXN3	OMIM:109150
HP:0025142	Constitutional symptom	28982	FLVCR1	ORPHA:88628
HP:0025142	Constitutional symptom	7543	ZFX	OMIM:301118
HP:0025142	Constitutional symptom	7042	TGFB2	OMIM:614816
HP:0025142	Constitutional symptom	22947	DUX4L1	ORPHA:269
HP:0025142	Constitutional symptom	1789	DNMT3B	ORPHA:269
HP:0025142	Constitutional symptom	2483	FRG1	ORPHA:269
HP:0025142	Constitutional symptom	23347	SMCHD1	ORPHA:269
HP:0025142	Constitutional symptom	100288687	DUX4	ORPHA:269
HP:0025142	Constitutional symptom	171023	ASXL1	ORPHA:98850
HP:0025142	Constitutional symptom	54790	TET2	ORPHA:98850
HP:0025142	Constitutional symptom	54790	TET2	ORPHA:824
HP:0025142	Constitutional symptom	867	CBL	ORPHA:98850
HP:0025142	Constitutional symptom	861	RUNX1	ORPHA:98850
HP:0025142	Constitutional symptom	6427	SRSF2	ORPHA:98850
HP:0025142	Constitutional symptom	811	CALR	ORPHA:824
HP:0025142	Constitutional symptom	4352	MPL	ORPHA:824
HP:0025142	Constitutional symptom	3717	JAK2	ORPHA:824
HP:0025142	Constitutional symptom	8314	BAP1	ORPHA:50251
HP:0025142	Constitutional symptom	940	CD28	ORPHA:3162
HP:0025142	Constitutional symptom	7133	TNFRSF1B	ORPHA:3162
HP:0025142	Constitutional symptom	4598	MVK	OMIM:260920
HP:0025142	Constitutional symptom	5314	PKHD1	ORPHA:53035
HP:0025142	Constitutional symptom	2038	EPB42	ORPHA:822
HP:0025142	Constitutional symptom	6521	SLC4A1	ORPHA:822
HP:0025142	Constitutional symptom	286	ANK1	ORPHA:822
HP:0025142	Constitutional symptom	1135	CHRNA2	OMIM:610353
HP:0025142	Constitutional symptom	6709	SPTAN1	OMIM:620528
HP:0025142	Constitutional symptom	9692	PRORP	OMIM:619737
HP:0025142	Constitutional symptom	1716	DGUOK	ORPHA:329314
HP:0025142	Constitutional symptom	50814	NSDHL	ORPHA:251383
HP:0025142	Constitutional symptom	5277	PIGA	ORPHA:447
HP:0025142	Constitutional symptom	3181	HNRNPA2B1	OMIM:620460
HP:0025142	Constitutional symptom	4125	MAN2B1	ORPHA:309282
HP:0025142	Constitutional symptom	4125	MAN2B1	ORPHA:309288
HP:0025142	Constitutional symptom	4522	MTHFD1	OMIM:617780
HP:0025142	Constitutional symptom	78987	CRELD1	OMIM:620771
HP:0025142	Constitutional symptom	51726	DNAJB11	ORPHA:730
HP:0025142	Constitutional symptom	23193	GANAB	ORPHA:730
HP:0025142	Constitutional symptom	5310	PKD1	ORPHA:730
HP:0025142	Constitutional symptom	5311	PKD2	ORPHA:730
HP:0025142	Constitutional symptom	29880	ALG5	ORPHA:730
HP:0025142	Constitutional symptom	9742	IFT140	ORPHA:730
HP:0025142	Constitutional symptom	79796	ALG9	ORPHA:730
HP:0025142	Constitutional symptom	80114	BICC1	ORPHA:730
HP:0025142	Constitutional symptom	182	JAG1	OMIM:619574
HP:0025142	Constitutional symptom	10165	SLC25A13	ORPHA:247585
HP:0025142	Constitutional symptom	9256	TSPOAP1	ORPHA:101150
HP:0025142	Constitutional symptom	7054	TH	ORPHA:101150
HP:0025142	Constitutional symptom	4914	NTRK1	ORPHA:642
HP:0025142	Constitutional symptom	9573	GDF3	ORPHA:2345
HP:0025142	Constitutional symptom	392255	GDF6	ORPHA:2345
HP:0025142	Constitutional symptom	4222	MEOX1	ORPHA:2345
HP:0025142	Constitutional symptom	4796	TONSL	ORPHA:93357
HP:0025142	Constitutional symptom	567	B2M	ORPHA:314652
HP:0025142	Constitutional symptom	5376	PMP22	ORPHA:101081
HP:0025142	Constitutional symptom	10269	ZMPSTE24	ORPHA:740
HP:0025142	Constitutional symptom	26580	BSCL2	ORPHA:100998
HP:0025142	Constitutional symptom	90	ACVR1	ORPHA:337
HP:0025142	Constitutional symptom	3373	HYAL1	OMIM:601492
HP:0025142	Constitutional symptom	10804	GJB6	ORPHA:477
HP:0025142	Constitutional symptom	2706	GJB2	ORPHA:477
HP:0025142	Constitutional symptom	4322	MMP13	OMIM:250400
HP:0025142	Constitutional symptom	123624	AGBL1	ORPHA:98974
HP:0025142	Constitutional symptom	83959	SLC4A11	ORPHA:98974
HP:0025142	Constitutional symptom	6840	SVIL	OMIM:619040
HP:0025142	Constitutional symptom	23299	BICD2	OMIM:615290
HP:0025142	Constitutional symptom	1311	COMP	ORPHA:93308
HP:0025142	Constitutional symptom	56606	SLC2A9	ORPHA:94088
HP:0025142	Constitutional symptom	116085	SLC22A12	ORPHA:94088
HP:0025142	Constitutional symptom	5836	PYGL	ORPHA:369
HP:0025142	Constitutional symptom	1297	COL9A1	ORPHA:166002
HP:0025142	Constitutional symptom	1299	COL9A3	ORPHA:166002
HP:0025142	Constitutional symptom	348	APOE	OMIM:606889
HP:0025142	Constitutional symptom	1027	CDKN1B	ORPHA:652
HP:0025142	Constitutional symptom	1026	CDKN1A	ORPHA:652
HP:0025142	Constitutional symptom	1030	CDKN2B	ORPHA:652
HP:0025142	Constitutional symptom	1031	CDKN2C	ORPHA:652
HP:0025142	Constitutional symptom	55703	POLR3B	OMIM:619742
HP:0025142	Constitutional symptom	59341	TRPV4	ORPHA:86820
HP:0025142	Constitutional symptom	1280	COL2A1	ORPHA:86820
HP:0025142	Constitutional symptom	5281	PIGF	OMIM:619356
HP:0025142	Constitutional symptom	56896	DPYSL5	OMIM:619435
HP:0025142	Constitutional symptom	5832	ALDH18A1	ORPHA:447760
HP:0025142	Constitutional symptom	197322	ACSF3	ORPHA:289504
HP:0025142	Constitutional symptom	9881	TRANK1	ORPHA:33543
HP:0025142	Constitutional symptom	1837	DTNA	OMIM:604169
HP:0025142	Constitutional symptom	7045	TGFBI	ORPHA:98960
HP:0025142	Constitutional symptom	8989	TRPA1	OMIM:615040
HP:0025142	Constitutional symptom	3110	MNX1	ORPHA:1552
HP:0025142	Constitutional symptom	7486	WRN	OMIM:277700
HP:0025142	Constitutional symptom	10815	CPLX1	OMIM:617976
HP:0025142	Constitutional symptom	6334	SCN8A	OMIM:614558
HP:0025142	Constitutional symptom	140679	SLC32A1	OMIM:620755
HP:0025142	Constitutional symptom	6323	SCN1A	OMIM:619317
HP:0025142	Constitutional symptom	55164	SHQ1	OMIM:619922
HP:0025142	Constitutional symptom	57465	TBC1D24	OMIM:615338
HP:0025142	Constitutional symptom	60558	GUF1	OMIM:617065
HP:0025142	Constitutional symptom	51741	WWOX	OMIM:616211
HP:0025142	Constitutional symptom	55148	UBR7	OMIM:619189
HP:0025142	Constitutional symptom	540	ATP7B	OMIM:277900
HP:0025142	Constitutional symptom	5978	REST	ORPHA:654
HP:0025142	Constitutional symptom	129563	DIS3L2	ORPHA:654
HP:0025142	Constitutional symptom	9319	TRIP13	ORPHA:654
HP:0025142	Constitutional symptom	7490	WT1	ORPHA:654
HP:0025142	Constitutional symptom	10155	TRIM28	ORPHA:654
HP:0025142	Constitutional symptom	11281	POU6F2	ORPHA:654
HP:0025142	Constitutional symptom	2719	GPC3	ORPHA:654
HP:0025142	Constitutional symptom	283120	H19	ORPHA:654
HP:0025142	Constitutional symptom	6792	CDKL5	ORPHA:505652
HP:0025142	Constitutional symptom	2550	GABBR1	OMIM:620502
HP:0025142	Constitutional symptom	23162	MAPK8IP3	OMIM:618443
HP:0025142	Constitutional symptom	5621	PRNP	ORPHA:280397
HP:0025142	Constitutional symptom	3425	IDUA	OMIM:607015
HP:0025142	Constitutional symptom	2731	GLDC	OMIM:605899
HP:0025142	Constitutional symptom	2653	GCSH	OMIM:620423
HP:0025142	Constitutional symptom	1528	CYB5A	ORPHA:90796
HP:0025142	Constitutional symptom	1586	CYP17A1	ORPHA:90796
HP:0025142	Constitutional symptom	3481	IGF2	ORPHA:397590
HP:0025142	Constitutional symptom	1028	CDKN1C	ORPHA:397590
HP:0025142	Constitutional symptom	5324	PLAG1	ORPHA:397590
HP:0025142	Constitutional symptom	8091	HMGA2	ORPHA:397590
HP:0025142	Constitutional symptom	84168	ANTXR1	ORPHA:2067
HP:0025142	Constitutional symptom	7066	THPO	ORPHA:71493
HP:0025142	Constitutional symptom	8675	STX16	ORPHA:94089
HP:0025142	Constitutional symptom	4842	NOS1	ORPHA:930
HP:0025142	Constitutional symptom	1281	COL3A1	OMIM:130050
HP:0025142	Constitutional symptom	2022	ENG	OMIM:187300
HP:0025142	Constitutional symptom	1000	CDH2	OMIM:618920
HP:0025142	Constitutional symptom	6049	RNF6	ORPHA:99977
HP:0025142	Constitutional symptom	9940	DLEC1	ORPHA:99977
HP:0025142	Constitutional symptom	4629	MYH11	ORPHA:229
HP:0025142	Constitutional symptom	4629	MYH11	ORPHA:91387
HP:0025142	Constitutional symptom	171019	ADAMTS19	OMIM:620067
HP:0025142	Constitutional symptom	4205	MEF2A	OMIM:608320
HP:0025142	Constitutional symptom	54344	DPM3	ORPHA:263494
HP:0025142	Constitutional symptom	4015	LOX	ORPHA:91387
HP:0025142	Constitutional symptom	2200	FBN1	ORPHA:91387
HP:0025142	Constitutional symptom	59	ACTA2	ORPHA:91387
HP:0025142	Constitutional symptom	5592	PRKG1	ORPHA:91387
HP:0025142	Constitutional symptom	2301	FOXE3	ORPHA:91387
HP:0025142	Constitutional symptom	4144	MAT2A	ORPHA:91387
HP:0025142	Constitutional symptom	23493	HEY2	ORPHA:91387
HP:0025142	Constitutional symptom	8076	MFAP5	ORPHA:91387
HP:0025142	Constitutional symptom	79875	THSD4	ORPHA:91387
HP:0025142	Constitutional symptom	1288	COL4A6	ORPHA:1018
HP:0025142	Constitutional symptom	1287	COL4A5	ORPHA:1018
HP:0025142	Constitutional symptom	5167	ENPP1	ORPHA:51608
HP:0025142	Constitutional symptom	368	ABCC6	ORPHA:51608
HP:0025142	Constitutional symptom	189	AGXT	OMIM:259900
HP:0025142	Constitutional symptom	5627	PROS1	ORPHA:743
HP:0025142	Constitutional symptom	5624	PROC	ORPHA:745
HP:0025142	Constitutional symptom	3832	KIF11	ORPHA:2526
HP:0025142	Constitutional symptom	151516	ASPRV1	ORPHA:313
HP:0025142	Constitutional symptom	242	ALOX12B	ORPHA:313
HP:0025142	Constitutional symptom	126410	CYP4F22	ORPHA:313
HP:0025142	Constitutional symptom	6820	SULT2B1	ORPHA:313
HP:0025142	Constitutional symptom	26154	ABCA12	ORPHA:313
HP:0025142	Constitutional symptom	643418	LIPN	ORPHA:313
HP:0025142	Constitutional symptom	59344	ALOXE3	ORPHA:313
HP:0025142	Constitutional symptom	348938	NIPAL4	ORPHA:313
HP:0025142	Constitutional symptom	121214	SDR9C7	ORPHA:313
HP:0025142	Constitutional symptom	7051	TGM1	ORPHA:313
HP:0025142	Constitutional symptom	4143	MAT1A	OMIM:250850
HP:0025142	Constitutional symptom	8991	SELENBP1	OMIM:618148
HP:0025142	Constitutional symptom	1080	CFTR	ORPHA:60033
HP:0025142	Constitutional symptom	4166	CHST6	ORPHA:98969
HP:0025142	Constitutional symptom	1308	COL17A1	ORPHA:293381
HP:0025142	Constitutional symptom	1308	COL17A1	OMIM:122400
HP:0025142	Constitutional symptom	57105	CYSLTR2	ORPHA:39044
HP:0025142	Constitutional symptom	2776	GNAQ	ORPHA:39044
HP:0025142	Constitutional symptom	2776	GNAQ	ORPHA:3205
HP:0025142	Constitutional symptom	23451	SF3B1	ORPHA:39044
HP:0025142	Constitutional symptom	1497	CTNS	ORPHA:411634
HP:0025142	Constitutional symptom	23516	SLC39A14	OMIM:144755
HP:0025142	Constitutional symptom	4070	TACSTD2	ORPHA:98957
HP:0025142	Constitutional symptom	6935	ZEB1	ORPHA:98973
HP:0025142	Constitutional symptom	30813	VSX1	ORPHA:98973
HP:0025142	Constitutional symptom	58495	OVOL2	ORPHA:98973
HP:0025142	Constitutional symptom	79977	GRHL2	ORPHA:98973
HP:0025142	Constitutional symptom	1296	COL8A2	ORPHA:98973
HP:0025142	Constitutional symptom	2328	FMO3	ORPHA:468726
HP:0025142	Constitutional symptom	29958	DMGDH	ORPHA:243343
HP:0025142	Constitutional symptom	29958	DMGDH	OMIM:605850
HP:0025142	Constitutional symptom	38	ACAT1	ORPHA:134
HP:0025142	Constitutional symptom	3712	IVD	OMIM:243500
HP:0025143	Chills	1493	CTLA4	ORPHA:3162
HP:0025143	Chills	940	CD28	ORPHA:3162
HP:0025143	Chills	7133	TNFRSF1B	ORPHA:3162
HP:0025143	Chills	84868	HAVCR2	ORPHA:86884
HP:0025143	Chills	4598	MVK	OMIM:260920
HP:0025143	Chills	5314	PKHD1	ORPHA:53035
HP:0025143	Chills	2038	EPB42	ORPHA:822
HP:0025143	Chills	6521	SLC4A1	ORPHA:822
HP:0025143	Chills	6710	SPTB	ORPHA:822
HP:0025143	Chills	6710	SPTB	ORPHA:288
HP:0025143	Chills	6708	SPTA1	ORPHA:822
HP:0025143	Chills	6708	SPTA1	ORPHA:288
HP:0025143	Chills	286	ANK1	ORPHA:822
HP:0025143	Chills	2035	EPB41	ORPHA:288
HP:0025143	Chills	2995	GYPC	ORPHA:288
HP:0025143	Chills	114548	NLRP3	OMIM:120100
HP:0025143	Chills	7187	TRAF3	ORPHA:1930
HP:0025143	Chills	81622	UNC93B1	ORPHA:1930
HP:0025143	Chills	148022	TICAM1	ORPHA:1930
HP:0025143	Chills	7098	TLR3	ORPHA:1930
HP:0025143	Chills	29110	TBK1	ORPHA:1930
HP:0025143	Chills	3032	HADHB	ORPHA:746
HP:0025143	Chills	3030	HADHA	ORPHA:746
HP:0025144	Shivering	1135	CHRNA2	OMIM:610353
HP:0025144	Shivering	1493	CTLA4	ORPHA:3162
HP:0025144	Shivering	940	CD28	ORPHA:3162
HP:0025144	Shivering	7133	TNFRSF1B	ORPHA:3162
HP:0025144	Shivering	3032	HADHB	ORPHA:746
HP:0025144	Shivering	3030	HADHA	ORPHA:746
HP:0025145	Rigors	3032	HADHB	ORPHA:746
HP:0025145	Rigors	3030	HADHA	ORPHA:746
HP:0025147	Beaten bronze macular sheen	157657	CFAP418	OMIM:614500
HP:0025148	Dark choroid	5961	PRPH2	OMIM:169150
HP:0025149	Atrophic muscularis propria	5428	POLG	ORPHA:298
HP:0025149	Atrophic muscularis propria	1890	TYMP	ORPHA:298
HP:0025149	Atrophic muscularis propria	3980	LIG3	ORPHA:298
HP:0025149	Atrophic muscularis propria	50484	RRM2B	ORPHA:298
HP:0012867	Abnormal sperm mid-piece morphology	144132	DNHD1	OMIM:619712
HP:0012867	Abnormal sperm mid-piece morphology	140732	SUN5	ORPHA:529970
HP:0012867	Abnormal sperm mid-piece morphology	83449	PMFBP1	ORPHA:529970
HP:0012868	Abnormal sperm tail morphology	161497	STRC	OMIM:611102
HP:0012868	Abnormal sperm tail morphology	117155	CATSPER2	OMIM:611102
HP:0012868	Abnormal sperm tail morphology	146754	DNAH2	OMIM:619094
HP:0012868	Abnormal sperm tail morphology	91057	CCDC34	OMIM:620084
HP:0012868	Abnormal sperm tail morphology	1769	DNAH8	OMIM:619095
HP:0012868	Abnormal sperm tail morphology	55779	CFAP44	OMIM:617593
HP:0012868	Abnormal sperm tail morphology	80217	CFAP43	OMIM:617592
HP:0012868	Abnormal sperm tail morphology	255101	CFAP65	OMIM:618664
HP:0012868	Abnormal sperm tail morphology	8632	DNAH17	OMIM:618643
HP:0012868	Abnormal sperm tail morphology	25981	DNAH1	OMIM:617576
HP:0012868	Abnormal sperm tail morphology	89876	CFAP91	OMIM:619177
HP:0012868	Abnormal sperm tail morphology	84074	QRICH2	OMIM:618341
HP:0012868	Abnormal sperm tail morphology	10233	LRRC23	OMIM:620848
HP:0012868	Abnormal sperm tail morphology	199223	TTC21A	OMIM:618429
HP:0012868	Abnormal sperm tail morphology	144132	DNHD1	OMIM:619712
HP:0012868	Abnormal sperm tail morphology	196385	DNAH10	OMIM:619515
HP:0012868	Abnormal sperm tail morphology	83894	TTC29	OMIM:618745
HP:0012868	Abnormal sperm tail morphology	92749	DRC1	OMIM:620222
HP:0012868	Abnormal sperm tail morphology	286464	CFAP47	OMIM:301059
HP:0012868	Abnormal sperm tail morphology	6756	SSX1	OMIM:301099
HP:0012868	Abnormal sperm tail morphology	22873	DZIP1	OMIM:619102
HP:0012868	Abnormal sperm tail morphology	79925	SPEF2	OMIM:618751
HP:0012868	Abnormal sperm tail morphology	84071	ARMC2	OMIM:618433
HP:0012868	Abnormal sperm tail morphology	144406	CFAP251	OMIM:618152
HP:0012868	Abnormal sperm tail morphology	401024	FSIP2	OMIM:618153
HP:0012868	Abnormal sperm tail morphology	159686	CFAP58	OMIM:619144
HP:0012868	Abnormal sperm tail morphology	26074	CFAP61	OMIM:620409
HP:0012868	Abnormal sperm tail morphology	65975	STK33	OMIM:620849
HP:0012868	Abnormal sperm tail morphology	122481	AK7	OMIM:617965
HP:0012868	Abnormal sperm tail morphology	54014	BRWD1	OMIM:620438
HP:0012868	Abnormal sperm tail morphology	57728	WDR19	OMIM:619867
HP:0012868	Abnormal sperm tail morphology	57639	CCDC146	OMIM:620850
HP:0012868	Abnormal sperm tail morphology	10566	AKAP3	OMIM:620353
HP:0012868	Abnormal sperm tail morphology	83844	USP26	OMIM:301101
HP:0012868	Abnormal sperm tail morphology	375307	CATIP	OMIM:619379
HP:0012868	Abnormal sperm tail morphology	79846	CFAP69	OMIM:617959
HP:0012868	Abnormal sperm tail morphology	118491	CFAP70	OMIM:618670
HP:0012868	Abnormal sperm tail morphology	80173	IFT74	OMIM:619585
HP:0012868	Abnormal sperm tail morphology	56171	DNAH7	OMIM:620356
HP:0012868	Abnormal sperm tail morphology	85452	CFAP74	OMIM:620197
HP:0012868	Abnormal sperm tail morphology	81833	SPACA1	OMIM:620490
HP:0012868	Abnormal sperm tail morphology	1538	CYLC1	OMIM:301119
HP:0012868	Abnormal sperm tail morphology	157855	KCNU1	OMIM:620196
HP:0012868	Abnormal sperm tail morphology	881	CCIN	OMIM:620838
HP:0012868	Abnormal sperm tail morphology	6795	AURKC	OMIM:243060
HP:0012868	Abnormal sperm tail morphology	8468	FKBP6	OMIM:620103
HP:0012868	Abnormal sperm tail morphology	54967	CT55	OMIM:301106
HP:0012868	Abnormal sperm tail morphology	7802	DNALI1	OMIM:620354
HP:0012869	Acephalic spermatozoa	81833	SPACA1	OMIM:620490
HP:0012869	Acephalic spermatozoa	676	BRDT	OMIM:617644
HP:0012869	Acephalic spermatozoa	83449	PMFBP1	OMIM:618112
HP:0012869	Acephalic spermatozoa	83449	PMFBP1	ORPHA:529970
HP:0012869	Acephalic spermatozoa	140732	SUN5	OMIM:617187
HP:0012869	Acephalic spermatozoa	140732	SUN5	ORPHA:529970
HP:0012869	Acephalic spermatozoa	10881	ACTL7A	OMIM:620499
HP:0012869	Acephalic spermatozoa	80705	TSGA10	OMIM:617961
HP:0012869	Acephalic spermatozoa	201134	CEP112	OMIM:619044
HP:0012862	Abnormal germ cell morphology	81833	SPACA1	OMIM:620490
HP:0012862	Abnormal germ cell morphology	84660	CCDC62	OMIM:619803
HP:0012862	Abnormal germ cell morphology	199720	GGN	OMIM:619826
HP:0012862	Abnormal germ cell morphology	151254	C2CD6	OMIM:619805
HP:0012862	Abnormal germ cell morphology	11055	ZPBP	OMIM:619799
HP:0012862	Abnormal germ cell morphology	283417	DPY19L2	OMIM:613958
HP:0012862	Abnormal germ cell morphology	83893	SPATA16	OMIM:102530
HP:0012862	Abnormal germ cell morphology	881	CCIN	OMIM:620838
HP:0012862	Abnormal germ cell morphology	340719	NANOS1	OMIM:615413
HP:0012862	Abnormal germ cell morphology	317719	KLHL10	OMIM:615081
HP:0012862	Abnormal germ cell morphology	124404	SEPTIN12	OMIM:614822
HP:0012862	Abnormal germ cell morphology	57704	GBA2	ORPHA:320391
HP:0012862	Abnormal germ cell morphology	55012	PPP2R3C	OMIM:618420
HP:0012862	Abnormal germ cell morphology	2488	FSHB	ORPHA:52901
HP:0012862	Abnormal germ cell morphology	8556	CDC14A	OMIM:608653
HP:0012862	Abnormal germ cell morphology	161497	STRC	OMIM:611102
HP:0012862	Abnormal germ cell morphology	117155	CATSPER2	OMIM:611102
HP:0012862	Abnormal germ cell morphology	1538	CYLC1	OMIM:301119
HP:0012862	Abnormal germ cell morphology	286151	FBXO43	OMIM:619696
HP:0012862	Abnormal germ cell morphology	10881	ACTL7A	OMIM:620499
HP:0012862	Abnormal germ cell morphology	84071	ARMC2	OMIM:618433
HP:0012862	Abnormal germ cell morphology	144132	DNHD1	OMIM:619712
HP:0012862	Abnormal germ cell morphology	140732	SUN5	ORPHA:529970
HP:0012862	Abnormal germ cell morphology	83449	PMFBP1	ORPHA:529970
HP:0012862	Abnormal germ cell morphology	676	BRDT	OMIM:617644
HP:0012862	Abnormal germ cell morphology	80705	TSGA10	OMIM:617961
HP:0012862	Abnormal germ cell morphology	201134	CEP112	OMIM:619044
HP:0012862	Abnormal germ cell morphology	6795	AURKC	OMIM:243060
HP:0012862	Abnormal germ cell morphology	89876	CFAP91	OMIM:619177
HP:0012862	Abnormal germ cell morphology	146754	DNAH2	OMIM:619094
HP:0012862	Abnormal germ cell morphology	91057	CCDC34	OMIM:620084
HP:0012862	Abnormal germ cell morphology	1769	DNAH8	OMIM:619095
HP:0012862	Abnormal germ cell morphology	55779	CFAP44	OMIM:617593
HP:0012862	Abnormal germ cell morphology	80217	CFAP43	OMIM:617592
HP:0012862	Abnormal germ cell morphology	255101	CFAP65	OMIM:618664
HP:0012862	Abnormal germ cell morphology	25981	DNAH1	OMIM:617576
HP:0012862	Abnormal germ cell morphology	84074	QRICH2	OMIM:618341
HP:0012862	Abnormal germ cell morphology	10233	LRRC23	OMIM:620848
HP:0012862	Abnormal germ cell morphology	199223	TTC21A	OMIM:618429
HP:0012862	Abnormal germ cell morphology	196385	DNAH10	OMIM:619515
HP:0012862	Abnormal germ cell morphology	92749	DRC1	OMIM:620222
HP:0012862	Abnormal germ cell morphology	286464	CFAP47	OMIM:301059
HP:0012862	Abnormal germ cell morphology	6756	SSX1	OMIM:301099
HP:0012862	Abnormal germ cell morphology	22873	DZIP1	OMIM:619102
HP:0012862	Abnormal germ cell morphology	79925	SPEF2	OMIM:618751
HP:0012862	Abnormal germ cell morphology	144406	CFAP251	OMIM:618152
HP:0012862	Abnormal germ cell morphology	401024	FSIP2	OMIM:618153
HP:0012862	Abnormal germ cell morphology	159686	CFAP58	OMIM:619144
HP:0012862	Abnormal germ cell morphology	26074	CFAP61	OMIM:620409
HP:0012862	Abnormal germ cell morphology	65975	STK33	OMIM:620849
HP:0012862	Abnormal germ cell morphology	122481	AK7	OMIM:617965
HP:0012862	Abnormal germ cell morphology	54014	BRWD1	OMIM:620438
HP:0012862	Abnormal germ cell morphology	57728	WDR19	OMIM:619867
HP:0012862	Abnormal germ cell morphology	57639	CCDC146	OMIM:620850
HP:0012862	Abnormal germ cell morphology	10566	AKAP3	OMIM:620353
HP:0012862	Abnormal germ cell morphology	80173	IFT74	OMIM:619585
HP:0012862	Abnormal germ cell morphology	56171	DNAH7	OMIM:620356
HP:0012862	Abnormal germ cell morphology	85452	CFAP74	OMIM:620197
HP:0012862	Abnormal germ cell morphology	157855	KCNU1	OMIM:620196
HP:0012862	Abnormal germ cell morphology	83844	USP26	OMIM:301101
HP:0012862	Abnormal germ cell morphology	80726	IQCN	OMIM:620170
HP:0012862	Abnormal germ cell morphology	83894	TTC29	OMIM:618745
HP:0012862	Abnormal germ cell morphology	79846	CFAP69	OMIM:617959
HP:0012862	Abnormal germ cell morphology	284382	ACTL9	OMIM:619258
HP:0012862	Abnormal germ cell morphology	8632	DNAH17	OMIM:618643
HP:0012862	Abnormal germ cell morphology	118491	CFAP70	OMIM:618670
HP:0012862	Abnormal germ cell morphology	375307	CATIP	OMIM:619379
HP:0012862	Abnormal germ cell morphology	8468	FKBP6	OMIM:620103
HP:0012862	Abnormal germ cell morphology	54967	CT55	OMIM:301106
HP:0012862	Abnormal germ cell morphology	64518	TEKT3	OMIM:620277
HP:0012862	Abnormal germ cell morphology	7802	DNALI1	OMIM:620354
HP:0012862	Abnormal germ cell morphology	49	ACR	OMIM:620500
HP:0012863	Abnormal male germ cell morphology	81833	SPACA1	OMIM:620490
HP:0012863	Abnormal male germ cell morphology	84660	CCDC62	OMIM:619803
HP:0012863	Abnormal male germ cell morphology	199720	GGN	OMIM:619826
HP:0012863	Abnormal male germ cell morphology	151254	C2CD6	OMIM:619805
HP:0012863	Abnormal male germ cell morphology	11055	ZPBP	OMIM:619799
HP:0012863	Abnormal male germ cell morphology	283417	DPY19L2	OMIM:613958
HP:0012863	Abnormal male germ cell morphology	83893	SPATA16	OMIM:102530
HP:0012863	Abnormal male germ cell morphology	881	CCIN	OMIM:620838
HP:0012863	Abnormal male germ cell morphology	340719	NANOS1	OMIM:615413
HP:0012863	Abnormal male germ cell morphology	317719	KLHL10	OMIM:615081
HP:0012863	Abnormal male germ cell morphology	124404	SEPTIN12	OMIM:614822
HP:0012863	Abnormal male germ cell morphology	57704	GBA2	ORPHA:320391
HP:0012863	Abnormal male germ cell morphology	55012	PPP2R3C	OMIM:618420
HP:0012863	Abnormal male germ cell morphology	2488	FSHB	ORPHA:52901
HP:0012863	Abnormal male germ cell morphology	8556	CDC14A	OMIM:608653
HP:0012863	Abnormal male germ cell morphology	161497	STRC	OMIM:611102
HP:0012863	Abnormal male germ cell morphology	117155	CATSPER2	OMIM:611102
HP:0012863	Abnormal male germ cell morphology	1538	CYLC1	OMIM:301119
HP:0012863	Abnormal male germ cell morphology	286151	FBXO43	OMIM:619696
HP:0012863	Abnormal male germ cell morphology	10881	ACTL7A	OMIM:620499
HP:0012863	Abnormal male germ cell morphology	84071	ARMC2	OMIM:618433
HP:0012863	Abnormal male germ cell morphology	144132	DNHD1	OMIM:619712
HP:0012863	Abnormal male germ cell morphology	140732	SUN5	ORPHA:529970
HP:0012863	Abnormal male germ cell morphology	83449	PMFBP1	ORPHA:529970
HP:0012863	Abnormal male germ cell morphology	676	BRDT	OMIM:617644
HP:0012863	Abnormal male germ cell morphology	80705	TSGA10	OMIM:617961
HP:0012863	Abnormal male germ cell morphology	201134	CEP112	OMIM:619044
HP:0012863	Abnormal male germ cell morphology	6795	AURKC	OMIM:243060
HP:0012863	Abnormal male germ cell morphology	89876	CFAP91	OMIM:619177
HP:0012863	Abnormal male germ cell morphology	146754	DNAH2	OMIM:619094
HP:0012863	Abnormal male germ cell morphology	91057	CCDC34	OMIM:620084
HP:0012863	Abnormal male germ cell morphology	1769	DNAH8	OMIM:619095
HP:0012863	Abnormal male germ cell morphology	55779	CFAP44	OMIM:617593
HP:0012863	Abnormal male germ cell morphology	80217	CFAP43	OMIM:617592
HP:0012863	Abnormal male germ cell morphology	255101	CFAP65	OMIM:618664
HP:0012863	Abnormal male germ cell morphology	25981	DNAH1	OMIM:617576
HP:0012863	Abnormal male germ cell morphology	84074	QRICH2	OMIM:618341
HP:0012863	Abnormal male germ cell morphology	10233	LRRC23	OMIM:620848
HP:0012863	Abnormal male germ cell morphology	199223	TTC21A	OMIM:618429
HP:0012863	Abnormal male germ cell morphology	196385	DNAH10	OMIM:619515
HP:0012863	Abnormal male germ cell morphology	92749	DRC1	OMIM:620222
HP:0012863	Abnormal male germ cell morphology	286464	CFAP47	OMIM:301059
HP:0012863	Abnormal male germ cell morphology	6756	SSX1	OMIM:301099
HP:0012863	Abnormal male germ cell morphology	22873	DZIP1	OMIM:619102
HP:0012863	Abnormal male germ cell morphology	79925	SPEF2	OMIM:618751
HP:0012863	Abnormal male germ cell morphology	144406	CFAP251	OMIM:618152
HP:0012863	Abnormal male germ cell morphology	401024	FSIP2	OMIM:618153
HP:0012863	Abnormal male germ cell morphology	159686	CFAP58	OMIM:619144
HP:0012863	Abnormal male germ cell morphology	26074	CFAP61	OMIM:620409
HP:0012863	Abnormal male germ cell morphology	65975	STK33	OMIM:620849
HP:0012863	Abnormal male germ cell morphology	122481	AK7	OMIM:617965
HP:0012863	Abnormal male germ cell morphology	54014	BRWD1	OMIM:620438
HP:0012863	Abnormal male germ cell morphology	57728	WDR19	OMIM:619867
HP:0012863	Abnormal male germ cell morphology	57639	CCDC146	OMIM:620850
HP:0012863	Abnormal male germ cell morphology	10566	AKAP3	OMIM:620353
HP:0012863	Abnormal male germ cell morphology	80173	IFT74	OMIM:619585
HP:0012863	Abnormal male germ cell morphology	56171	DNAH7	OMIM:620356
HP:0012863	Abnormal male germ cell morphology	85452	CFAP74	OMIM:620197
HP:0012863	Abnormal male germ cell morphology	157855	KCNU1	OMIM:620196
HP:0012863	Abnormal male germ cell morphology	83844	USP26	OMIM:301101
HP:0012863	Abnormal male germ cell morphology	80726	IQCN	OMIM:620170
HP:0012863	Abnormal male germ cell morphology	83894	TTC29	OMIM:618745
HP:0012863	Abnormal male germ cell morphology	79846	CFAP69	OMIM:617959
HP:0012863	Abnormal male germ cell morphology	284382	ACTL9	OMIM:619258
HP:0012863	Abnormal male germ cell morphology	8632	DNAH17	OMIM:618643
HP:0012863	Abnormal male germ cell morphology	118491	CFAP70	OMIM:618670
HP:0012863	Abnormal male germ cell morphology	375307	CATIP	OMIM:619379
HP:0012863	Abnormal male germ cell morphology	8468	FKBP6	OMIM:620103
HP:0012863	Abnormal male germ cell morphology	54967	CT55	OMIM:301106
HP:0012863	Abnormal male germ cell morphology	64518	TEKT3	OMIM:620277
HP:0012863	Abnormal male germ cell morphology	7802	DNALI1	OMIM:620354
HP:0012863	Abnormal male germ cell morphology	49	ACR	OMIM:620500
HP:0012864	Abnormal sperm morphology	81833	SPACA1	OMIM:620490
HP:0012864	Abnormal sperm morphology	84660	CCDC62	OMIM:619803
HP:0012864	Abnormal sperm morphology	199720	GGN	OMIM:619826
HP:0012864	Abnormal sperm morphology	151254	C2CD6	OMIM:619805
HP:0012864	Abnormal sperm morphology	11055	ZPBP	OMIM:619799
HP:0012864	Abnormal sperm morphology	283417	DPY19L2	OMIM:613958
HP:0012864	Abnormal sperm morphology	83893	SPATA16	OMIM:102530
HP:0012864	Abnormal sperm morphology	881	CCIN	OMIM:620838
HP:0012864	Abnormal sperm morphology	317719	KLHL10	OMIM:615081
HP:0012864	Abnormal sperm morphology	124404	SEPTIN12	OMIM:614822
HP:0012864	Abnormal sperm morphology	57704	GBA2	ORPHA:320391
HP:0012864	Abnormal sperm morphology	55012	PPP2R3C	OMIM:618420
HP:0012864	Abnormal sperm morphology	2488	FSHB	ORPHA:52901
HP:0012864	Abnormal sperm morphology	8556	CDC14A	OMIM:608653
HP:0012864	Abnormal sperm morphology	161497	STRC	OMIM:611102
HP:0012864	Abnormal sperm morphology	117155	CATSPER2	OMIM:611102
HP:0012864	Abnormal sperm morphology	1538	CYLC1	OMIM:301119
HP:0012864	Abnormal sperm morphology	286151	FBXO43	OMIM:619696
HP:0012864	Abnormal sperm morphology	10881	ACTL7A	OMIM:620499
HP:0012864	Abnormal sperm morphology	84071	ARMC2	OMIM:618433
HP:0012864	Abnormal sperm morphology	144132	DNHD1	OMIM:619712
HP:0012864	Abnormal sperm morphology	140732	SUN5	ORPHA:529970
HP:0012864	Abnormal sperm morphology	83449	PMFBP1	ORPHA:529970
HP:0012864	Abnormal sperm morphology	676	BRDT	OMIM:617644
HP:0012864	Abnormal sperm morphology	80705	TSGA10	OMIM:617961
HP:0012864	Abnormal sperm morphology	201134	CEP112	OMIM:619044
HP:0012864	Abnormal sperm morphology	6795	AURKC	OMIM:243060
HP:0012864	Abnormal sperm morphology	89876	CFAP91	OMIM:619177
HP:0012864	Abnormal sperm morphology	146754	DNAH2	OMIM:619094
HP:0012864	Abnormal sperm morphology	91057	CCDC34	OMIM:620084
HP:0012864	Abnormal sperm morphology	1769	DNAH8	OMIM:619095
HP:0012864	Abnormal sperm morphology	55779	CFAP44	OMIM:617593
HP:0012864	Abnormal sperm morphology	80217	CFAP43	OMIM:617592
HP:0012864	Abnormal sperm morphology	255101	CFAP65	OMIM:618664
HP:0012864	Abnormal sperm morphology	25981	DNAH1	OMIM:617576
HP:0012864	Abnormal sperm morphology	84074	QRICH2	OMIM:618341
HP:0012864	Abnormal sperm morphology	10233	LRRC23	OMIM:620848
HP:0012864	Abnormal sperm morphology	199223	TTC21A	OMIM:618429
HP:0012864	Abnormal sperm morphology	196385	DNAH10	OMIM:619515
HP:0012864	Abnormal sperm morphology	92749	DRC1	OMIM:620222
HP:0012864	Abnormal sperm morphology	286464	CFAP47	OMIM:301059
HP:0012864	Abnormal sperm morphology	6756	SSX1	OMIM:301099
HP:0012864	Abnormal sperm morphology	22873	DZIP1	OMIM:619102
HP:0012864	Abnormal sperm morphology	79925	SPEF2	OMIM:618751
HP:0012864	Abnormal sperm morphology	144406	CFAP251	OMIM:618152
HP:0012864	Abnormal sperm morphology	401024	FSIP2	OMIM:618153
HP:0012864	Abnormal sperm morphology	159686	CFAP58	OMIM:619144
HP:0012864	Abnormal sperm morphology	26074	CFAP61	OMIM:620409
HP:0012864	Abnormal sperm morphology	65975	STK33	OMIM:620849
HP:0012864	Abnormal sperm morphology	122481	AK7	OMIM:617965
HP:0012864	Abnormal sperm morphology	54014	BRWD1	OMIM:620438
HP:0012864	Abnormal sperm morphology	57728	WDR19	OMIM:619867
HP:0012864	Abnormal sperm morphology	57639	CCDC146	OMIM:620850
HP:0012864	Abnormal sperm morphology	10566	AKAP3	OMIM:620353
HP:0012864	Abnormal sperm morphology	80173	IFT74	OMIM:619585
HP:0012864	Abnormal sperm morphology	56171	DNAH7	OMIM:620356
HP:0012864	Abnormal sperm morphology	85452	CFAP74	OMIM:620197
HP:0012864	Abnormal sperm morphology	157855	KCNU1	OMIM:620196
HP:0012864	Abnormal sperm morphology	83844	USP26	OMIM:301101
HP:0012864	Abnormal sperm morphology	80726	IQCN	OMIM:620170
HP:0012864	Abnormal sperm morphology	83894	TTC29	OMIM:618745
HP:0012864	Abnormal sperm morphology	79846	CFAP69	OMIM:617959
HP:0012864	Abnormal sperm morphology	284382	ACTL9	OMIM:619258
HP:0012864	Abnormal sperm morphology	8632	DNAH17	OMIM:618643
HP:0012864	Abnormal sperm morphology	118491	CFAP70	OMIM:618670
HP:0012864	Abnormal sperm morphology	375307	CATIP	OMIM:619379
HP:0012864	Abnormal sperm morphology	8468	FKBP6	OMIM:620103
HP:0012864	Abnormal sperm morphology	54967	CT55	OMIM:301106
HP:0012864	Abnormal sperm morphology	64518	TEKT3	OMIM:620277
HP:0012864	Abnormal sperm morphology	7802	DNALI1	OMIM:620354
HP:0012864	Abnormal sperm morphology	49	ACR	OMIM:620500
HP:0012865	Abnormal sperm head morphology	81833	SPACA1	OMIM:620490
HP:0012865	Abnormal sperm head morphology	84660	CCDC62	OMIM:619803
HP:0012865	Abnormal sperm head morphology	199720	GGN	OMIM:619826
HP:0012865	Abnormal sperm head morphology	151254	C2CD6	OMIM:619805
HP:0012865	Abnormal sperm head morphology	11055	ZPBP	OMIM:619799
HP:0012865	Abnormal sperm head morphology	283417	DPY19L2	OMIM:613958
HP:0012865	Abnormal sperm head morphology	83893	SPATA16	OMIM:102530
HP:0012865	Abnormal sperm head morphology	54967	CT55	OMIM:301106
HP:0012865	Abnormal sperm head morphology	881	CCIN	OMIM:620838
HP:0012865	Abnormal sperm head morphology	161497	STRC	OMIM:611102
HP:0012865	Abnormal sperm head morphology	117155	CATSPER2	OMIM:611102
HP:0012865	Abnormal sperm head morphology	57704	GBA2	ORPHA:320391
HP:0012865	Abnormal sperm head morphology	1538	CYLC1	OMIM:301119
HP:0012865	Abnormal sperm head morphology	286151	FBXO43	OMIM:619696
HP:0012865	Abnormal sperm head morphology	10881	ACTL7A	OMIM:620499
HP:0012865	Abnormal sperm head morphology	84071	ARMC2	OMIM:618433
HP:0012865	Abnormal sperm head morphology	676	BRDT	OMIM:617644
HP:0012865	Abnormal sperm head morphology	83449	PMFBP1	OMIM:618112
HP:0012865	Abnormal sperm head morphology	83449	PMFBP1	ORPHA:529970
HP:0012865	Abnormal sperm head morphology	140732	SUN5	OMIM:617187
HP:0012865	Abnormal sperm head morphology	140732	SUN5	ORPHA:529970
HP:0012865	Abnormal sperm head morphology	80705	TSGA10	OMIM:617961
HP:0012865	Abnormal sperm head morphology	201134	CEP112	OMIM:619044
HP:0012865	Abnormal sperm head morphology	6795	AURKC	OMIM:243060
HP:0012865	Abnormal sperm head morphology	89876	CFAP91	OMIM:619177
HP:0012865	Abnormal sperm head morphology	83844	USP26	OMIM:301101
HP:0012865	Abnormal sperm head morphology	80726	IQCN	OMIM:620170
HP:0012865	Abnormal sperm head morphology	83894	TTC29	OMIM:618745
HP:0012865	Abnormal sperm head morphology	79846	CFAP69	OMIM:617959
HP:0012865	Abnormal sperm head morphology	284382	ACTL9	OMIM:619258
HP:0012865	Abnormal sperm head morphology	375307	CATIP	OMIM:619379
HP:0012865	Abnormal sperm head morphology	8632	DNAH17	OMIM:618643
HP:0012865	Abnormal sperm head morphology	118491	CFAP70	OMIM:618670
HP:0012865	Abnormal sperm head morphology	64518	TEKT3	OMIM:620277
HP:0012865	Abnormal sperm head morphology	49	ACR	OMIM:620500
HP:0012861	Ovotestis	6662	SOX9	OMIM:616425
HP:0012861	Ovotestis	6662	SOX9	OMIM:278850
HP:0012861	Ovotestis	6736	SRY	ORPHA:1772
HP:0012861	Ovotestis	6736	SRY	OMIM:400045
HP:0012861	Ovotestis	2516	NR5A1	OMIM:617480
HP:0012861	Ovotestis	284654	RSPO1	OMIM:610644
HP:0012861	Ovotestis	54361	WNT4	OMIM:611812
HP:0012861	Ovotestis	54539	NDUFB11	OMIM:309801
HP:0012861	Ovotestis	1349	COX7B	OMIM:309801
HP:0012861	Ovotestis	3052	HCCS	OMIM:309801
HP:0100585	Telangiectasia of the skin	641	BLM	OMIM:210900
HP:0100585	Telangiectasia of the skin	170302	ARX	ORPHA:94083
HP:0100585	Telangiectasia of the skin	55315	SLC29A3	OMIM:602782
HP:0100585	Telangiectasia of the skin	55315	SLC29A3	ORPHA:168569
HP:0100585	Telangiectasia of the skin	546	ATRX	ORPHA:100075
HP:0100585	Telangiectasia of the skin	80326	WNT10A	ORPHA:50944
HP:0100585	Telangiectasia of the skin	55275	VPS53	OMIM:615851
HP:0100585	Telangiectasia of the skin	545	ATR	OMIM:614564
HP:0100585	Telangiectasia of the skin	9675	TTI1	OMIM:620445
HP:0100585	Telangiectasia of the skin	6392	SDHD	ORPHA:100093
HP:0100585	Telangiectasia of the skin	10093	ARPC4	OMIM:620141
HP:0100585	Telangiectasia of the skin	79158	GNPTAB	ORPHA:576
HP:0100585	Telangiectasia of the skin	5426	POLE	OMIM:615139
HP:0100585	Telangiectasia of the skin	831	CAST	OMIM:616295
HP:0100585	Telangiectasia of the skin	54345	SOX18	OMIM:137940
HP:0100585	Telangiectasia of the skin	2859	GPR35	ORPHA:171
HP:0100585	Telangiectasia of the skin	10507	SEMA4D	ORPHA:171
HP:0100585	Telangiectasia of the skin	4485	MST1	ORPHA:171
HP:0100585	Telangiectasia of the skin	6925	TCF4	ORPHA:171
HP:0100585	Telangiectasia of the skin	2542	SLC37A4	OMIM:232240
HP:0100585	Telangiectasia of the skin	5290	PIK3CA	ORPHA:276280
HP:0100585	Telangiectasia of the skin	5290	PIK3CA	ORPHA:60040
HP:0100585	Telangiectasia of the skin	64840	PORCN	ORPHA:2092
HP:0100585	Telangiectasia of the skin	55699	IARS2	OMIM:616007
HP:0100585	Telangiectasia of the skin	118429	ANTXR2	ORPHA:2176
HP:0100585	Telangiectasia of the skin	7518	XRCC4	ORPHA:99812
HP:0100585	Telangiectasia of the skin	3981	LIG4	ORPHA:99812
HP:0100585	Telangiectasia of the skin	81031	SLC2A10	ORPHA:3342
HP:0100585	Telangiectasia of the skin	1540	CYLD	ORPHA:867
HP:0100585	Telangiectasia of the skin	1540	CYLD	ORPHA:211
HP:0100585	Telangiectasia of the skin	7486	WRN	ORPHA:902
HP:0100585	Telangiectasia of the skin	1235	CCR6	ORPHA:220402
HP:0100585	Telangiectasia of the skin	1235	CCR6	ORPHA:220393
HP:0100585	Telangiectasia of the skin	79932	KIAA0319L	ORPHA:220402
HP:0100585	Telangiectasia of the skin	1490	CCN2	ORPHA:220402
HP:0100585	Telangiectasia of the skin	1490	CCN2	ORPHA:220393
HP:0100585	Telangiectasia of the skin	3663	IRF5	ORPHA:220402
HP:0100585	Telangiectasia of the skin	3663	IRF5	ORPHA:220393
HP:0100585	Telangiectasia of the skin	857	CAV1	ORPHA:220402
HP:0100585	Telangiectasia of the skin	857	CAV1	ORPHA:220393
HP:0100585	Telangiectasia of the skin	3123	HLA-DRB1	ORPHA:220402
HP:0100585	Telangiectasia of the skin	3123	HLA-DRB1	ORPHA:220393
HP:0100585	Telangiectasia of the skin	11322	TMC6	ORPHA:302
HP:0100585	Telangiectasia of the skin	3574	IL7	ORPHA:302
HP:0100585	Telangiectasia of the skin	147138	TMC8	ORPHA:302
HP:0100585	Telangiectasia of the skin	10519	CIB1	ORPHA:302
HP:0100585	Telangiectasia of the skin	8517	IKBKG	ORPHA:464
HP:0100585	Telangiectasia of the skin	472	ATM	ORPHA:100
HP:0100585	Telangiectasia of the skin	63916	ELMO2	ORPHA:3019
HP:0100585	Telangiectasia of the skin	55612	FERMT1	OMIM:173650
HP:0100585	Telangiectasia of the skin	3930	LBR	ORPHA:779
HP:0100585	Telangiectasia of the skin	3815	KIT	ORPHA:79455
HP:0100585	Telangiectasia of the skin	2767	GNA11	ORPHA:1556
HP:0100585	Telangiectasia of the skin	151188	ARL6IP6	ORPHA:1556
HP:0100585	Telangiectasia of the skin	2658	GDF2	ORPHA:774
HP:0100585	Telangiectasia of the skin	94	ACVRL1	ORPHA:774
HP:0100585	Telangiectasia of the skin	4089	SMAD4	ORPHA:774
HP:0100585	Telangiectasia of the skin	2022	ENG	ORPHA:774
HP:0100585	Telangiectasia of the skin	2022	ENG	OMIM:187300
HP:0100585	Telangiectasia of the skin	4668	NAGA	ORPHA:79280
HP:0100585	Telangiectasia of the skin	4668	NAGA	ORPHA:79279
HP:0100585	Telangiectasia of the skin	4000	LMNA	OMIM:212112
HP:0100585	Telangiectasia of the skin	4000	LMNA	ORPHA:79474
HP:0100585	Telangiectasia of the skin	2717	GLA	ORPHA:324
HP:0100585	Telangiectasia of the skin	1281	COL3A1	ORPHA:286
HP:0100585	Telangiectasia of the skin	1281	COL3A1	ORPHA:2500
HP:0100585	Telangiectasia of the skin	5424	POLD1	OMIM:615381
HP:0100585	Telangiectasia of the skin	5111	PCNA	ORPHA:438134
HP:0100585	Telangiectasia of the skin	80169	CTC1	ORPHA:1775
HP:0100585	Telangiectasia of the skin	26277	TINF2	ORPHA:1775
HP:0100585	Telangiectasia of the skin	55651	NHP2	ORPHA:1775
HP:0100585	Telangiectasia of the skin	79650	USB1	ORPHA:1775
HP:0100585	Telangiectasia of the skin	55135	WRAP53	ORPHA:1775
HP:0100585	Telangiectasia of the skin	51750	RTEL1	ORPHA:1775
HP:0100585	Telangiectasia of the skin	4869	NPM1	ORPHA:1775
HP:0100585	Telangiectasia of the skin	7012	TERC	ORPHA:1775
HP:0100585	Telangiectasia of the skin	55505	NOP10	ORPHA:1775
HP:0100585	Telangiectasia of the skin	5073	PARN	ORPHA:1775
HP:0100585	Telangiectasia of the skin	7015	TERT	ORPHA:1775
HP:0100585	Telangiectasia of the skin	1736	DKC1	ORPHA:1775
HP:0100585	Telangiectasia of the skin	7298	TYMS	ORPHA:1775
HP:0100585	Telangiectasia of the skin	5167	ENPP1	ORPHA:758
HP:0100585	Telangiectasia of the skin	368	ABCC6	ORPHA:758
HP:0100585	Telangiectasia of the skin	4763	NF1	ORPHA:97685
HP:0100585	Telangiectasia of the skin	2068	ERCC2	ORPHA:910
HP:0100585	Telangiectasia of the skin	7507	XPA	ORPHA:910
HP:0100585	Telangiectasia of the skin	2071	ERCC3	ORPHA:910
HP:0100585	Telangiectasia of the skin	7508	XPC	ORPHA:910
HP:0100585	Telangiectasia of the skin	1643	DDB2	ORPHA:910
HP:0100585	Telangiectasia of the skin	2072	ERCC4	ORPHA:910
HP:0100585	Telangiectasia of the skin	2073	ERCC5	ORPHA:910
HP:0001581	Recurrent skin infections	3587	IL10RA	OMIM:613148
HP:0001581	Recurrent skin infections	695	BTK	OMIM:300755
HP:0001581	Recurrent skin infections	695	BTK	OMIM:307200
HP:0001581	Recurrent skin infections	10804	GJB6	ORPHA:477
HP:0001581	Recurrent skin infections	2706	GJB2	ORPHA:477
HP:0001581	Recurrent skin infections	3572	IL6ST	OMIM:619752
HP:0001581	Recurrent skin infections	331	XIAP	OMIM:300635
HP:0001581	Recurrent skin infections	59335	PRDM12	OMIM:616488
HP:0001581	Recurrent skin infections	5238	PGM3	ORPHA:443811
HP:0001581	Recurrent skin infections	83706	FERMT3	OMIM:612840
HP:0001581	Recurrent skin infections	3570	IL6R	OMIM:618944
HP:0001581	Recurrent skin infections	3426	CFI	OMIM:610984
HP:0001581	Recurrent skin infections	54440	SASH3	OMIM:301082
HP:0001581	Recurrent skin infections	6789	STK4	OMIM:614868
HP:0001581	Recurrent skin infections	11322	TMC6	ORPHA:302
HP:0001581	Recurrent skin infections	3574	IL7	ORPHA:302
HP:0001581	Recurrent skin infections	147138	TMC8	ORPHA:302
HP:0001581	Recurrent skin infections	10519	CIB1	ORPHA:302
HP:0001581	Recurrent skin infections	3655	ITGA6	ORPHA:79403
HP:0001581	Recurrent skin infections	3691	ITGB4	ORPHA:79403
HP:0001581	Recurrent skin infections	3909	LAMA3	ORPHA:79404
HP:0001581	Recurrent skin infections	3918	LAMC2	ORPHA:79404
HP:0001581	Recurrent skin infections	3914	LAMB3	ORPHA:79404
HP:0001581	Recurrent skin infections	113189	CHST14	OMIM:601776
HP:0001581	Recurrent skin infections	113189	CHST14	ORPHA:2953
HP:0001581	Recurrent skin infections	51360	MBTPS2	OMIM:308205
HP:0001581	Recurrent skin infections	4312	MMP1	ORPHA:79408
HP:0001581	Recurrent skin infections	1294	COL7A1	ORPHA:79408
HP:0001581	Recurrent skin infections	1294	COL7A1	ORPHA:89842
HP:0001581	Recurrent skin infections	27086	FOXP1	ORPHA:391372
HP:0001581	Recurrent skin infections	10525	HYOU1	OMIM:233600
HP:0001581	Recurrent skin infections	4780	NFE2L2	OMIM:617744
HP:0001581	Recurrent skin infections	11005	SPINK5	OMIM:256500
HP:0001581	Recurrent skin infections	4790	NFKB1	OMIM:616576
HP:0001581	Recurrent skin infections	5294	PIK3CG	OMIM:619802
HP:0001581	Recurrent skin infections	9837	GINS1	OMIM:617827
HP:0001581	Recurrent skin infections	11128	POLR3A	ORPHA:3455
HP:0001581	Recurrent skin infections	1991	ELANE	ORPHA:2686
HP:0001581	Recurrent skin infections	1991	ELANE	ORPHA:486
HP:0001581	Recurrent skin infections	84905	ZNF341	OMIM:618282
HP:0001581	Recurrent skin infections	5317	PKP1	ORPHA:158668
HP:0001581	Recurrent skin infections	55612	FERMT1	ORPHA:2908
HP:0001581	Recurrent skin infections	4615	MYD88	OMIM:612260
HP:0001581	Recurrent skin infections	29940	DSE	ORPHA:2953
HP:0001581	Recurrent skin infections	57591	MRTFA	OMIM:618847
HP:0001581	Recurrent skin infections	50943	FOXP3	ORPHA:37042
HP:0001581	Recurrent skin infections	686	BTD	OMIM:253260
HP:0001581	Recurrent skin infections	23765	IL17RA	OMIM:613953
HP:0001581	Recurrent skin infections	2303	FOXC2	ORPHA:33001
HP:0001581	Recurrent skin infections	2050	EPHB4	ORPHA:90186
HP:0001581	Recurrent skin infections	10312	TCIRG1	ORPHA:486
HP:0001581	Recurrent skin infections	6728	SRP19	ORPHA:486
HP:0001581	Recurrent skin infections	2672	GFI1	ORPHA:486
HP:0001581	Recurrent skin infections	81570	CLPB	ORPHA:486
HP:0001581	Recurrent skin infections	3848	KRT1	ORPHA:79503
HP:0001581	Recurrent skin infections	6850	SYK	OMIM:619381
HP:0001581	Recurrent skin infections	57165	GJC2	OMIM:613480
HP:0001581	Recurrent skin infections	26258	BLOC1S6	OMIM:614171
HP:0001581	Recurrent skin infections	4153	MBL2	OMIM:614372
HP:0001581	Recurrent skin infections	1828	DSG1	OMIM:615508
HP:0001581	Recurrent skin infections	3852	KRT5	ORPHA:79396
HP:0001581	Recurrent skin infections	3861	KRT14	ORPHA:79396
HP:0001581	Recurrent skin infections	6778	STAT6	OMIM:620532
HP:0001581	Recurrent skin infections	8883	NAE1	OMIM:620210
HP:0001581	Recurrent skin infections	6929	TCF3	ORPHA:33110
HP:0001581	Recurrent skin infections	7922	SLC39A7	ORPHA:33110
HP:0001581	Recurrent skin infections	973	CD79A	ORPHA:33110
HP:0001581	Recurrent skin infections	974	CD79B	ORPHA:33110
HP:0001581	Recurrent skin infections	6688	SPI1	ORPHA:33110
HP:0001581	Recurrent skin infections	3543	IGLL1	ORPHA:33110
HP:0001581	Recurrent skin infections	3507	IGHM	ORPHA:33110
HP:0001581	Recurrent skin infections	29760	BLNK	ORPHA:33110
HP:0001581	Recurrent skin infections	5295	PIK3R1	ORPHA:33110
HP:0001581	Recurrent skin infections	56262	LRRC8A	ORPHA:33110
HP:0001581	Recurrent skin infections	1075	CTSC	ORPHA:678
HP:0001581	Recurrent skin infections	57724	EPG5	OMIM:242840
HP:0001581	Recurrent skin infections	3689	ITGB2	OMIM:116920
HP:0001581	Recurrent skin infections	5994	RFXAP	ORPHA:572
HP:0001581	Recurrent skin infections	4261	CIITA	ORPHA:572
HP:0001581	Recurrent skin infections	4261	CIITA	OMIM:209920
HP:0001581	Recurrent skin infections	5993	RFX5	ORPHA:572
HP:0001581	Recurrent skin infections	8625	RFXANK	ORPHA:572
HP:0001581	Recurrent skin infections	8625	RFXANK	OMIM:620815
HP:0001581	Recurrent skin infections	6772	STAT1	ORPHA:391487
HP:0001581	Recurrent skin infections	6772	STAT1	OMIM:614162
HP:0001581	Recurrent skin infections	326	AIRE	OMIM:240300
HP:0001581	Recurrent skin infections	326	AIRE	ORPHA:3453
HP:0001581	Recurrent skin infections	100	ADA	OMIM:102700
HP:0001581	Recurrent skin infections	84818	IL17RC	OMIM:616445
HP:0001581	Recurrent skin infections	9020	MAP3K14	OMIM:620449
HP:0001581	Recurrent skin infections	3551	IKBKB	OMIM:618204
HP:0001581	Recurrent skin infections	112744	IL17F	OMIM:613956
HP:0001581	Recurrent skin infections	3575	IL7R	OMIM:608971
HP:0001581	Recurrent skin infections	3431	SP110	ORPHA:79124
HP:0001581	Recurrent skin infections	6720	SREBF1	OMIM:158310
HP:0001581	Recurrent skin infections	8517	IKBKG	ORPHA:98813
HP:0001581	Recurrent skin infections	4792	NFKBIA	ORPHA:98813
HP:0001581	Recurrent skin infections	1130	LYST	ORPHA:167
HP:0001581	Recurrent skin infections	1130	LYST	OMIM:214500
HP:0001581	Recurrent skin infections	3561	IL2RG	ORPHA:276
HP:0001581	Recurrent skin infections	1536	CYBB	OMIM:306400
HP:0001581	Recurrent skin infections	4688	NCF2	OMIM:233710
HP:0001581	Recurrent skin infections	653361	NCF1	OMIM:233700
HP:0001581	Recurrent skin infections	1535	CYBA	OMIM:233690
HP:0001581	Recurrent skin infections	7535	ZAP70	ORPHA:911
HP:0001581	Recurrent skin infections	7390	UROS	ORPHA:79277
HP:0001581	Recurrent skin infections	2623	GATA1	ORPHA:79277
HP:0001581	Recurrent skin infections	51135	IRAK4	ORPHA:70592
HP:0001581	Recurrent skin infections	6868	ADAM17	ORPHA:294023
HP:0001581	Recurrent skin infections	1956	EGFR	ORPHA:294023
HP:0001581	Recurrent skin infections	7389	UROD	ORPHA:95159
HP:0001581	Recurrent skin infections	81704	DOCK8	ORPHA:217390
HP:0001581	Recurrent skin infections	64170	CARD9	OMIM:212050
HP:0001581	Recurrent skin infections	915	CD3D	ORPHA:169160
HP:0001581	Recurrent skin infections	916	CD3E	ORPHA:169160
HP:0001581	Recurrent skin infections	919	CD247	ORPHA:169160
HP:0001581	Recurrent skin infections	64421	DCLRE1C	ORPHA:275
HP:0001581	Recurrent skin infections	7037	TFRC	OMIM:616740
HP:0001581	Recurrent skin infections	4598	MVK	OMIM:260920
HP:0001581	Recurrent skin infections	3932	LCK	OMIM:615758
HP:0001581	Recurrent skin infections	959	CD40LG	OMIM:308230
HP:0001581	Recurrent skin infections	5293	PIK3CD	ORPHA:221139
HP:0001581	Recurrent skin infections	90417	KNSTRN	ORPHA:221139
HP:0001581	Recurrent skin infections	8546	AP3B1	OMIM:608233
HP:0001581	Recurrent skin infections	51311	TLR8	OMIM:301078
HP:0001581	Recurrent skin infections	9948	WDR1	OMIM:150550
HP:0001581	Recurrent skin infections	5699	PSMB10	OMIM:620807
HP:0001581	Recurrent skin infections	28755	TRAC	OMIM:615387
HP:0001581	Recurrent skin infections	11151	CORO1A	OMIM:615401
HP:0001581	Recurrent skin infections	1794	DOCK2	OMIM:616433
HP:0001581	Recurrent skin infections	10758	TRAF3IP2	OMIM:615527
HP:0001581	Recurrent skin infections	8456	FOXN1	ORPHA:83471
HP:0001581	Recurrent skin infections	917	CD3G	OMIM:615607
HP:0001581	Recurrent skin infections	3559	IL2RA	OMIM:606367
HP:0001581	Recurrent skin infections	3718	JAK3	ORPHA:35078
HP:0001581	Recurrent skin infections	90268	OTULIN	OMIM:619986
HP:0001581	Recurrent skin infections	55851	PSENEN	OMIM:613736
HP:0001581	Recurrent skin infections	5663	PSEN1	OMIM:613737
HP:0001581	Recurrent skin infections	6097	RORC	OMIM:616622
HP:0001581	Recurrent skin infections	84196	USP48	ORPHA:96253
HP:0001581	Recurrent skin infections	7157	TP53	ORPHA:96253
HP:0001581	Recurrent skin infections	9101	USP8	ORPHA:96253
HP:0001581	Recurrent skin infections	64072	CDH23	ORPHA:96253
HP:0001581	Recurrent skin infections	2908	NR3C1	ORPHA:96253
HP:0001581	Recurrent skin infections	673	BRAF	ORPHA:96253
HP:0001581	Recurrent skin infections	546	ATRX	ORPHA:96253
HP:0001581	Recurrent skin infections	64581	CLEC7A	OMIM:613108
HP:0001581	Recurrent skin infections	6774	STAT3	OMIM:147060
HP:0001581	Recurrent skin infections	146206	CARMIL2	OMIM:618131
HP:0001581	Recurrent skin infections	3937	LCP2	OMIM:619374
HP:0001581	Recurrent skin infections	29927	SEC61A1	OMIM:617056
HP:0001581	Recurrent skin infections	7319	UBE2A	ORPHA:163956
HP:0012870	Vanishing testis	57647	DHX37	OMIM:273250
HP:0012870	Vanishing testis	57647	DHX37	ORPHA:251510
HP:0012870	Vanishing testis	6662	SOX9	ORPHA:251510
HP:0012870	Vanishing testis	6845	VAMP7	ORPHA:251510
HP:0012870	Vanishing testis	51741	WWOX	ORPHA:251510
HP:0012870	Vanishing testis	4214	MAP3K1	ORPHA:251510
HP:0012870	Vanishing testis	2516	NR5A1	ORPHA:251510
HP:0012870	Vanishing testis	7490	WT1	ORPHA:251510
HP:0012870	Vanishing testis	6736	SRY	ORPHA:251510
HP:0012870	Vanishing testis	23414	ZFPM2	ORPHA:251510
HP:0012870	Vanishing testis	190	NR0B1	ORPHA:251510
HP:0012870	Vanishing testis	2626	GATA4	ORPHA:251510
HP:0025152	Poor visual behavior for age	57465	TBC1D24	ORPHA:352596
HP:0025152	Poor visual behavior for age	5621	PRNP	ORPHA:282166
HP:0025152	Poor visual behavior for age	6857	SYT1	ORPHA:522077
HP:0025155	Abnormality of hepatobiliary system physiology	435	ASL	ORPHA:23
HP:0025155	Abnormality of hepatobiliary system physiology	1374	CPT1A	ORPHA:156
HP:0025155	Abnormality of hepatobiliary system physiology	26191	PTPN22	ORPHA:397
HP:0025155	Abnormality of hepatobiliary system physiology	3106	HLA-B	ORPHA:397
HP:0025155	Abnormality of hepatobiliary system physiology	8974	P4HA2	ORPHA:397
HP:0025155	Abnormality of hepatobiliary system physiology	6309	SC5D	ORPHA:46059
HP:0025155	Abnormality of hepatobiliary system physiology	72	ACTG2	OMIM:619431
HP:0025155	Abnormality of hepatobiliary system physiology	2632	GBE1	OMIM:232500
HP:0025155	Abnormality of hepatobiliary system physiology	26160	IFT172	OMIM:615630
HP:0025155	Abnormality of hepatobiliary system physiology	9414	TJP2	OMIM:615878
HP:0025155	Abnormality of hepatobiliary system physiology	2629	GBA1	OMIM:608013
HP:0025155	Abnormality of hepatobiliary system physiology	2629	GBA1	ORPHA:77259
HP:0025155	Abnormality of hepatobiliary system physiology	9420	CYP7B1	ORPHA:79302
HP:0025155	Abnormality of hepatobiliary system physiology	9420	CYP7B1	OMIM:613812
HP:0025155	Abnormality of hepatobiliary system physiology	6718	AKR1D1	ORPHA:79303
HP:0025155	Abnormality of hepatobiliary system physiology	6718	AKR1D1	OMIM:235555
HP:0025155	Abnormality of hepatobiliary system physiology	5604	MAP2K1	ORPHA:389
HP:0025155	Abnormality of hepatobiliary system physiology	4893	NRAS	ORPHA:389
HP:0025155	Abnormality of hepatobiliary system physiology	673	BRAF	ORPHA:389
HP:0025155	Abnormality of hepatobiliary system physiology	5009	OTC	ORPHA:664
HP:0025155	Abnormality of hepatobiliary system physiology	4535	MT-ND1	ORPHA:255210
HP:0025155	Abnormality of hepatobiliary system physiology	4536	MT-ND2	ORPHA:255210
HP:0025155	Abnormality of hepatobiliary system physiology	4537	MT-ND3	ORPHA:255210
HP:0025155	Abnormality of hepatobiliary system physiology	4538	MT-ND4	ORPHA:255210
HP:0025155	Abnormality of hepatobiliary system physiology	4567	MT-TL1	ORPHA:255210
HP:0025155	Abnormality of hepatobiliary system physiology	4578	MT-TW	ORPHA:255210
HP:0025155	Abnormality of hepatobiliary system physiology	4577	MT-TV	ORPHA:255210
HP:0025155	Abnormality of hepatobiliary system physiology	4508	MT-ATP6	ORPHA:255210
HP:0025155	Abnormality of hepatobiliary system physiology	4540	MT-ND5	ORPHA:255210
HP:0025155	Abnormality of hepatobiliary system physiology	4541	MT-ND6	ORPHA:255210
HP:0025155	Abnormality of hepatobiliary system physiology	4566	MT-TK	ORPHA:255210
HP:0025155	Abnormality of hepatobiliary system physiology	197131	UBR1	OMIM:243800
HP:0025155	Abnormality of hepatobiliary system physiology	4141	MARS1	OMIM:615486
HP:0025155	Abnormality of hepatobiliary system physiology	4068	SH2D1A	OMIM:308240
HP:0025155	Abnormality of hepatobiliary system physiology	331	XIAP	OMIM:308240
HP:0025155	Abnormality of hepatobiliary system physiology	331	XIAP	ORPHA:538934
HP:0025155	Abnormality of hepatobiliary system physiology	54658	UGT1A1	OMIM:143500
HP:0025155	Abnormality of hepatobiliary system physiology	2165	F13B	ORPHA:331
HP:0025155	Abnormality of hepatobiliary system physiology	2162	F13A1	ORPHA:331
HP:0025155	Abnormality of hepatobiliary system physiology	427	ASAH1	ORPHA:333
HP:0025155	Abnormality of hepatobiliary system physiology	27235	COQ2	OMIM:607426
HP:0025155	Abnormality of hepatobiliary system physiology	51473	DCDC2	OMIM:617394
HP:0025155	Abnormality of hepatobiliary system physiology	5105	PCK1	OMIM:261680
HP:0025155	Abnormality of hepatobiliary system physiology	50619	DEF6	OMIM:619573
HP:0025155	Abnormality of hepatobiliary system physiology	7019	TFAM	OMIM:617156
HP:0025155	Abnormality of hepatobiliary system physiology	3988	LIPA	OMIM:278000
HP:0025155	Abnormality of hepatobiliary system physiology	3988	LIPA	ORPHA:75233
HP:0025155	Abnormality of hepatobiliary system physiology	3988	LIPA	ORPHA:75234
HP:0025155	Abnormality of hepatobiliary system physiology	55764	IFT122	OMIM:218330
HP:0025155	Abnormality of hepatobiliary system physiology	1716	DGUOK	OMIM:251880
HP:0025155	Abnormality of hepatobiliary system physiology	5277	PIGA	OMIM:300868
HP:0025155	Abnormality of hepatobiliary system physiology	5277	PIGA	OMIM:301072
HP:0025155	Abnormality of hepatobiliary system physiology	9971	NR1H4	OMIM:617049
HP:0025155	Abnormality of hepatobiliary system physiology	25839	COG4	OMIM:613489
HP:0025155	Abnormality of hepatobiliary system physiology	6811	STX5	OMIM:620454
HP:0025155	Abnormality of hepatobiliary system physiology	788	SLC25A20	ORPHA:159
HP:0025155	Abnormality of hepatobiliary system physiology	8241	RBM10	OMIM:311900
HP:0025155	Abnormality of hepatobiliary system physiology	7840	ALMS1	ORPHA:64
HP:0025155	Abnormality of hepatobiliary system physiology	9056	SLC7A7	ORPHA:470
HP:0025155	Abnormality of hepatobiliary system physiology	80270	HSD3B7	OMIM:607765
HP:0025155	Abnormality of hepatobiliary system physiology	51241	COX16	OMIM:619355
HP:0025155	Abnormality of hepatobiliary system physiology	570	BAAT	OMIM:619232
HP:0025155	Abnormality of hepatobiliary system physiology	54914	FOCAD	OMIM:619991
HP:0025155	Abnormality of hepatobiliary system physiology	10068	IL18BP	OMIM:618549
HP:0025155	Abnormality of hepatobiliary system physiology	8364	H4C3	OMIM:619758
HP:0025155	Abnormality of hepatobiliary system physiology	5265	SERPINA1	ORPHA:60
HP:0025155	Abnormality of hepatobiliary system physiology	5428	POLG	OMIM:203700
HP:0025155	Abnormality of hepatobiliary system physiology	23600	AMACR	OMIM:214950
HP:0025155	Abnormality of hepatobiliary system physiology	378884	NHLRC1	ORPHA:501
HP:0025155	Abnormality of hepatobiliary system physiology	7957	EPM2A	ORPHA:501
HP:0025155	Abnormality of hepatobiliary system physiology	7957	EPM2A	OMIM:254780
HP:0025155	Abnormality of hepatobiliary system physiology	3594	IL12RB1	ORPHA:186
HP:0025155	Abnormality of hepatobiliary system physiology	23534	TNPO3	ORPHA:186
HP:0025155	Abnormality of hepatobiliary system physiology	3592	IL12A	ORPHA:186
HP:0025155	Abnormality of hepatobiliary system physiology	6689	SPIB	ORPHA:186
HP:0025155	Abnormality of hepatobiliary system physiology	5450	POU2AF1	ORPHA:186
HP:0025155	Abnormality of hepatobiliary system physiology	9966	TNFSF15	ORPHA:186
HP:0025155	Abnormality of hepatobiliary system physiology	79258	MMEL1	ORPHA:186
HP:0025155	Abnormality of hepatobiliary system physiology	3663	IRF5	ORPHA:186
HP:0025155	Abnormality of hepatobiliary system physiology	5106	PCK2	OMIM:261650
HP:0025155	Abnormality of hepatobiliary system physiology	50615	IL21R	OMIM:615207
HP:0025155	Abnormality of hepatobiliary system physiology	182	JAG1	OMIM:118450
HP:0025155	Abnormality of hepatobiliary system physiology	28976	ACAD9	OMIM:611126
HP:0025155	Abnormality of hepatobiliary system physiology	6514	SLC2A2	ORPHA:2088
HP:0025155	Abnormality of hepatobiliary system physiology	540	ATP7B	OMIM:277900
HP:0025155	Abnormality of hepatobiliary system physiology	2271	FH	OMIM:606812
HP:0025155	Abnormality of hepatobiliary system physiology	9076	CLDN1	OMIM:607626
HP:0025155	Abnormality of hepatobiliary system physiology	2658	GDF2	ORPHA:774
HP:0025155	Abnormality of hepatobiliary system physiology	94	ACVRL1	ORPHA:774
HP:0025155	Abnormality of hepatobiliary system physiology	4089	SMAD4	ORPHA:774
HP:0025155	Abnormality of hepatobiliary system physiology	2022	ENG	ORPHA:774
HP:0025155	Abnormality of hepatobiliary system physiology	51081	MRPS7	OMIM:617872
HP:0025155	Abnormality of hepatobiliary system physiology	9652	SKIC3	OMIM:222470
HP:0025155	Abnormality of hepatobiliary system physiology	4724	NDUFS4	OMIM:252010
HP:0025155	Abnormality of hepatobiliary system physiology	29960	MRM2	OMIM:618567
HP:0025155	Abnormality of hepatobiliary system physiology	5824	PEX19	OMIM:614886
HP:0025155	Abnormality of hepatobiliary system physiology	5824	PEX19	ORPHA:912
HP:0025155	Abnormality of hepatobiliary system physiology	84317	CCDC115	OMIM:616828
HP:0025155	Abnormality of hepatobiliary system physiology	2184	FAH	OMIM:276700
HP:0025155	Abnormality of hepatobiliary system physiology	25913	POT1	OMIM:620367
HP:0025155	Abnormality of hepatobiliary system physiology	1376	CPT2	ORPHA:228305
HP:0025155	Abnormality of hepatobiliary system physiology	1376	CPT2	ORPHA:228308
HP:0025155	Abnormality of hepatobiliary system physiology	28962	OSTM1	OMIM:259720
HP:0025155	Abnormality of hepatobiliary system physiology	546	ATRX	ORPHA:100075
HP:0025155	Abnormality of hepatobiliary system physiology	5825	ABCD3	OMIM:616278
HP:0025155	Abnormality of hepatobiliary system physiology	80169	CTC1	ORPHA:1775
HP:0025155	Abnormality of hepatobiliary system physiology	26277	TINF2	ORPHA:1775
HP:0025155	Abnormality of hepatobiliary system physiology	55651	NHP2	ORPHA:1775
HP:0025155	Abnormality of hepatobiliary system physiology	79650	USB1	ORPHA:1775
HP:0025155	Abnormality of hepatobiliary system physiology	55135	WRAP53	ORPHA:1775
HP:0025155	Abnormality of hepatobiliary system physiology	51750	RTEL1	ORPHA:1775
HP:0025155	Abnormality of hepatobiliary system physiology	4869	NPM1	ORPHA:1775
HP:0025155	Abnormality of hepatobiliary system physiology	7012	TERC	ORPHA:1775
HP:0025155	Abnormality of hepatobiliary system physiology	55505	NOP10	ORPHA:1775
HP:0025155	Abnormality of hepatobiliary system physiology	5073	PARN	ORPHA:1775
HP:0025155	Abnormality of hepatobiliary system physiology	7015	TERT	ORPHA:1775
HP:0025155	Abnormality of hepatobiliary system physiology	1736	DKC1	ORPHA:1775
HP:0025155	Abnormality of hepatobiliary system physiology	7298	TYMS	ORPHA:1775
HP:0025155	Abnormality of hepatobiliary system physiology	335	APOA1	OMIM:620657
HP:0025155	Abnormality of hepatobiliary system physiology	57410	SCYL1	OMIM:616719
HP:0025155	Abnormality of hepatobiliary system physiology	8504	PEX3	ORPHA:912
HP:0025155	Abnormality of hepatobiliary system physiology	8799	PEX11B	ORPHA:912
HP:0025155	Abnormality of hepatobiliary system physiology	5830	PEX5	ORPHA:912
HP:0025155	Abnormality of hepatobiliary system physiology	5189	PEX1	ORPHA:912
HP:0025155	Abnormality of hepatobiliary system physiology	5193	PEX12	ORPHA:912
HP:0025155	Abnormality of hepatobiliary system physiology	5195	PEX14	ORPHA:912
HP:0025155	Abnormality of hepatobiliary system physiology	950	SCARB2	ORPHA:77259
HP:0025155	Abnormality of hepatobiliary system physiology	10159	ATP6AP2	OMIM:301045
HP:0025155	Abnormality of hepatobiliary system physiology	171023	ASXL1	ORPHA:98850
HP:0025155	Abnormality of hepatobiliary system physiology	54790	TET2	ORPHA:98850
HP:0025155	Abnormality of hepatobiliary system physiology	867	CBL	ORPHA:98850
HP:0025155	Abnormality of hepatobiliary system physiology	861	RUNX1	ORPHA:98850
HP:0025155	Abnormality of hepatobiliary system physiology	6427	SRSF2	ORPHA:98850
HP:0025155	Abnormality of hepatobiliary system physiology	91949	COG7	OMIM:608779
HP:0025155	Abnormality of hepatobiliary system physiology	1738	DLD	OMIM:246900
HP:0025155	Abnormality of hepatobiliary system physiology	3376	IARS1	OMIM:617093
HP:0025155	Abnormality of hepatobiliary system physiology	57003	CCDC47	OMIM:618268
HP:0025155	Abnormality of hepatobiliary system physiology	4574	MT-TS1	OMIM:220110
HP:0025155	Abnormality of hepatobiliary system physiology	4570	MT-TN	OMIM:220110
HP:0025155	Abnormality of hepatobiliary system physiology	6834	SURF1	OMIM:220110
HP:0025155	Abnormality of hepatobiliary system physiology	5190	PEX6	OMIM:614863
HP:0025155	Abnormality of hepatobiliary system physiology	2592	GALT	OMIM:230400
HP:0025155	Abnormality of hepatobiliary system physiology	5828	PEX2	OMIM:614867
HP:0025155	Abnormality of hepatobiliary system physiology	2653	GCSH	OMIM:620423
HP:0025155	Abnormality of hepatobiliary system physiology	84334	COA8	ORPHA:436271
HP:0025155	Abnormality of hepatobiliary system physiology	1650	DDOST	OMIM:614507
HP:0025155	Abnormality of hepatobiliary system physiology	10056	FARSB	OMIM:613658
HP:0025155	Abnormality of hepatobiliary system physiology	6261	RYR1	ORPHA:466650
HP:0025155	Abnormality of hepatobiliary system physiology	10128	LRPPRC	ORPHA:70472
HP:0025155	Abnormality of hepatobiliary system physiology	56052	ALG1	ORPHA:79327
HP:0025155	Abnormality of hepatobiliary system physiology	5551	PRF1	ORPHA:540
HP:0025155	Abnormality of hepatobiliary system physiology	8676	STX11	ORPHA:540
HP:0025155	Abnormality of hepatobiliary system physiology	201294	UNC13D	ORPHA:540
HP:0025155	Abnormality of hepatobiliary system physiology	6813	STXBP2	ORPHA:540
HP:0025155	Abnormality of hepatobiliary system physiology	3043	HBB	ORPHA:231222
HP:0025155	Abnormality of hepatobiliary system physiology	22796	COG2	ORPHA:435934
HP:0025155	Abnormality of hepatobiliary system physiology	23395	LARS2	OMIM:617021
HP:0025155	Abnormality of hepatobiliary system physiology	7385	UQCRC2	OMIM:615160
HP:0025155	Abnormality of hepatobiliary system physiology	51601	LIPT1	OMIM:616299
HP:0025155	Abnormality of hepatobiliary system physiology	5192	PEX10	OMIM:614870
HP:0025155	Abnormality of hepatobiliary system physiology	5192	PEX10	OMIM:614871
HP:0025155	Abnormality of hepatobiliary system physiology	55278	QRSL1	OMIM:618835
HP:0025155	Abnormality of hepatobiliary system physiology	55670	PEX26	OMIM:614873
HP:0025155	Abnormality of hepatobiliary system physiology	54931	TRMT10C	OMIM:616974
HP:0025155	Abnormality of hepatobiliary system physiology	644	BLVRA	OMIM:614156
HP:0025155	Abnormality of hepatobiliary system physiology	51649	MRPS23	OMIM:618952
HP:0025155	Abnormality of hepatobiliary system physiology	9409	PEX16	OMIM:614877
HP:0025155	Abnormality of hepatobiliary system physiology	25973	PARS2	OMIM:618437
HP:0025155	Abnormality of hepatobiliary system physiology	100506658	OCLN	OMIM:251290
HP:0025155	Abnormality of hepatobiliary system physiology	283459	GATC	OMIM:618839
HP:0025155	Abnormality of hepatobiliary system physiology	617	BCS1L	OMIM:124000
HP:0025155	Abnormality of hepatobiliary system physiology	10166	SLC25A15	ORPHA:415
HP:0025155	Abnormality of hepatobiliary system physiology	10166	SLC25A15	OMIM:238970
HP:0025155	Abnormality of hepatobiliary system physiology	9968	MED12	OMIM:301068
HP:0025155	Abnormality of hepatobiliary system physiology	4351	MPI	ORPHA:79319
HP:0025155	Abnormality of hepatobiliary system physiology	34	ACADM	ORPHA:42
HP:0025155	Abnormality of hepatobiliary system physiology	6609	SMPD1	ORPHA:77293
HP:0025155	Abnormality of hepatobiliary system physiology	2954	GSTZ1	OMIM:617596
HP:0025155	Abnormality of hepatobiliary system physiology	125988	MICOS13	OMIM:618329
HP:0025155	Abnormality of hepatobiliary system physiology	738	VPS51	OMIM:618606
HP:0025155	Abnormality of hepatobiliary system physiology	5194	PEX13	OMIM:614883
HP:0025155	Abnormality of hepatobiliary system physiology	130589	GALM	ORPHA:570422
HP:0025155	Abnormality of hepatobiliary system physiology	55005	RMND1	OMIM:614922
HP:0025155	Abnormality of hepatobiliary system physiology	147007	TMEM199	OMIM:616829
HP:0025155	Abnormality of hepatobiliary system physiology	10195	ALG3	ORPHA:79321
HP:0025155	Abnormality of hepatobiliary system physiology	1130	LYST	ORPHA:167
HP:0025155	Abnormality of hepatobiliary system physiology	23193	GANAB	OMIM:600666
HP:0025155	Abnormality of hepatobiliary system physiology	55532	SLC30A10	OMIM:613280
HP:0025155	Abnormality of hepatobiliary system physiology	8772	FADD	ORPHA:306550
HP:0025155	Abnormality of hepatobiliary system physiology	79053	ALG8	OMIM:608104
HP:0025155	Abnormality of hepatobiliary system physiology	6888	TALDO1	OMIM:606003
HP:0025155	Abnormality of hepatobiliary system physiology	2235	FECH	ORPHA:79278
HP:0025155	Abnormality of hepatobiliary system physiology	56244	BTNL2	ORPHA:797
HP:0025155	Abnormality of hepatobiliary system physiology	3123	HLA-DRB1	ORPHA:797
HP:0025155	Abnormality of hepatobiliary system physiology	267010	RNU12	ORPHA:512260
HP:0025155	Abnormality of hepatobiliary system physiology	11232	POLG2	OMIM:618528
HP:0025155	Abnormality of hepatobiliary system physiology	85476	GFM1	OMIM:609060
HP:0025155	Abnormality of hepatobiliary system physiology	3875	KRT18	OMIM:215600
HP:0025155	Abnormality of hepatobiliary system physiology	10320	IKZF1	ORPHA:36426
HP:0025155	Abnormality of hepatobiliary system physiology	811	CALR	ORPHA:131
HP:0025155	Abnormality of hepatobiliary system physiology	3717	JAK2	ORPHA:131
HP:0025155	Abnormality of hepatobiliary system physiology	2153	F5	ORPHA:131
HP:0025155	Abnormality of hepatobiliary system physiology	51594	NBAS	OMIM:616483
HP:0025155	Abnormality of hepatobiliary system physiology	55687	TRMU	OMIM:613070
HP:0025155	Abnormality of hepatobiliary system physiology	60561	RINT1	OMIM:618641
HP:0025155	Abnormality of hepatobiliary system physiology	2859	GPR35	ORPHA:171
HP:0025155	Abnormality of hepatobiliary system physiology	10507	SEMA4D	ORPHA:171
HP:0025155	Abnormality of hepatobiliary system physiology	4485	MST1	ORPHA:171
HP:0025155	Abnormality of hepatobiliary system physiology	6925	TCF4	ORPHA:171
HP:0025155	Abnormality of hepatobiliary system physiology	1537	CYC1	OMIM:615453
HP:0025155	Abnormality of hepatobiliary system physiology	64840	PORCN	ORPHA:2092
HP:0025155	Abnormality of hepatobiliary system physiology	51520	LARS1	OMIM:615438
HP:0025155	Abnormality of hepatobiliary system physiology	83737	ITCH	ORPHA:228426
HP:0025155	Abnormality of hepatobiliary system physiology	779	CACNA1S	ORPHA:423
HP:0025155	Abnormality of hepatobiliary system physiology	9451	EIF2AK3	ORPHA:1667
HP:0025155	Abnormality of hepatobiliary system physiology	4210	MEFV	ORPHA:342
HP:0025155	Abnormality of hepatobiliary system physiology	57169	ZNFX1	OMIM:619644
HP:0025155	Abnormality of hepatobiliary system physiology	3033	HADH	ORPHA:71212
HP:0025155	Abnormality of hepatobiliary system physiology	87178	PNPT1	OMIM:614932
HP:0025155	Abnormality of hepatobiliary system physiology	64116	SLC39A8	ORPHA:468699
HP:0025155	Abnormality of hepatobiliary system physiology	4358	MPV17	OMIM:256810
HP:0025155	Abnormality of hepatobiliary system physiology	162417	NAGS	ORPHA:927
HP:0025155	Abnormality of hepatobiliary system physiology	3155	HMGCL	ORPHA:20
HP:0025155	Abnormality of hepatobiliary system physiology	2203	FBP1	ORPHA:348
HP:0025155	Abnormality of hepatobiliary system physiology	4864	NPC1	OMIM:257220
HP:0025155	Abnormality of hepatobiliary system physiology	4576	MT-TT	ORPHA:254857
HP:0025155	Abnormality of hepatobiliary system physiology	56623	INPP5E	ORPHA:1454
HP:0025155	Abnormality of hepatobiliary system physiology	91147	TMEM67	ORPHA:1454
HP:0025155	Abnormality of hepatobiliary system physiology	23322	RPGRIP1L	ORPHA:1454
HP:0025155	Abnormality of hepatobiliary system physiology	57545	CC2D2A	ORPHA:1454
HP:0025155	Abnormality of hepatobiliary system physiology	654	BMP6	ORPHA:465508
HP:0025155	Abnormality of hepatobiliary system physiology	3077	HFE	ORPHA:465508
HP:0025155	Abnormality of hepatobiliary system physiology	3032	HADHB	ORPHA:746
HP:0025155	Abnormality of hepatobiliary system physiology	3030	HADHA	ORPHA:746
HP:0025155	Abnormality of hepatobiliary system physiology	3431	SP110	ORPHA:79124
HP:0025155	Abnormality of hepatobiliary system physiology	229	ALDOB	ORPHA:469
HP:0025156	Dependency on intravenous nutrition	9652	SKIC3	ORPHA:84064
HP:0025156	Dependency on intravenous nutrition	6499	SKIC2	ORPHA:84064
HP:0025156	Dependency on intravenous nutrition	50943	FOXP3	ORPHA:37042
HP:0025157	Increased urinary sedoheptulose	23729	SHPK	OMIM:617213
HP:0025158	Hyperautofluorescent retinal lesion	3419	IDH3A	OMIM:619007
HP:0025158	Hyperautofluorescent retinal lesion	6247	RS1	ORPHA:792
HP:0025158	Hyperautofluorescent retinal lesion	57670	KIAA1549	OMIM:618613
HP:0025158	Hyperautofluorescent retinal lesion	9371	KIF3B	OMIM:618955
HP:0025158	Hyperautofluorescent retinal lesion	2202	EFEMP1	ORPHA:75376
HP:0025158	Hyperautofluorescent retinal lesion	3075	CFH	ORPHA:75376
HP:0025158	Hyperautofluorescent retinal lesion	3426	CFI	ORPHA:75376
HP:0025158	Hyperautofluorescent retinal lesion	157657	CFAP418	OMIM:617406
HP:0025158	Hyperautofluorescent retinal lesion	84100	ARL6	OMIM:209900
HP:0025158	Hyperautofluorescent retinal lesion	79140	CCDC28B	OMIM:209900
HP:0025158	Hyperautofluorescent retinal lesion	582	BBS1	OMIM:209900
HP:0025158	Hyperautofluorescent retinal lesion	83723	TLCD3B	OMIM:619531
HP:0025158	Hyperautofluorescent retinal lesion	5961	PRPH2	ORPHA:75377
HP:0025158	Hyperautofluorescent retinal lesion	3000	GUCY2D	ORPHA:75377
HP:0025158	Hyperautofluorescent retinal lesion	2978	GUCA1A	ORPHA:75377
HP:0025158	Hyperautofluorescent retinal lesion	55624	POMGNT1	OMIM:617123
HP:0025158	Hyperautofluorescent retinal lesion	22901	ARSG	OMIM:618144
HP:0025159	Hypoautofluorescent retinal lesion	10283	CWC27	OMIM:250410
HP:0025159	Hypoautofluorescent retinal lesion	83723	TLCD3B	OMIM:619531
HP:0025159	Hypoautofluorescent retinal lesion	344658	SAMD7	OMIM:620762
HP:0025159	Hypoautofluorescent retinal lesion	2202	EFEMP1	ORPHA:75376
HP:0025159	Hypoautofluorescent retinal lesion	3075	CFH	ORPHA:75376
HP:0025159	Hypoautofluorescent retinal lesion	3426	CFI	ORPHA:75376
HP:0025159	Hypoautofluorescent retinal lesion	6103	RPGR	OMIM:304020
HP:0025159	Hypoautofluorescent retinal lesion	55857	KIZ	OMIM:615780
HP:0012871	Varicocele	207	AKT1	OMIM:615109
HP:0012871	Varicocele	5728	PTEN	OMIM:158350
HP:0012871	Varicocele	10847	SRCAP	ORPHA:2044
HP:0012871	Varicocele	10847	SRCAP	OMIM:136140
HP:0012871	Varicocele	5978	REST	ORPHA:654
HP:0012871	Varicocele	129563	DIS3L2	ORPHA:654
HP:0012871	Varicocele	675	BRCA2	ORPHA:654
HP:0012871	Varicocele	9319	TRIP13	ORPHA:654
HP:0012871	Varicocele	7490	WT1	ORPHA:654
HP:0012871	Varicocele	10155	TRIM28	ORPHA:654
HP:0012871	Varicocele	11281	POU6F2	ORPHA:654
HP:0012871	Varicocele	2719	GPC3	ORPHA:654
HP:0012871	Varicocele	283120	H19	ORPHA:654
HP:0012872	Abnormal vas deferens morphology	10149	ADGRG2	ORPHA:48
HP:0012872	Abnormal vas deferens morphology	10149	ADGRG2	OMIM:300985
HP:0012872	Abnormal vas deferens morphology	1080	CFTR	ORPHA:48
HP:0012872	Abnormal vas deferens morphology	1080	CFTR	ORPHA:586
HP:0012872	Abnormal vas deferens morphology	1080	CFTR	OMIM:277180
HP:0012872	Abnormal vas deferens morphology	6804	STX1A	ORPHA:586
HP:0012872	Abnormal vas deferens morphology	2947	GSTM3	ORPHA:586
HP:0012872	Abnormal vas deferens morphology	7040	TGFB1	ORPHA:586
HP:0012872	Abnormal vas deferens morphology	2729	GCLC	ORPHA:586
HP:0012872	Abnormal vas deferens morphology	1084	CEACAM3	ORPHA:586
HP:0012872	Abnormal vas deferens morphology	6556	SLC11A1	ORPHA:586
HP:0012872	Abnormal vas deferens morphology	51164	DCTN4	ORPHA:586
HP:0012872	Abnormal vas deferens morphology	3783	KCNN4	ORPHA:586
HP:0012872	Abnormal vas deferens morphology	4282	MIF	ORPHA:586
HP:0012872	Abnormal vas deferens morphology	1909	EDNRA	ORPHA:586
HP:0012872	Abnormal vas deferens morphology	6550	SLC9A3	ORPHA:586
HP:0012872	Abnormal vas deferens morphology	3162	HMOX1	ORPHA:586
HP:0012872	Abnormal vas deferens morphology	115019	SLC26A9	ORPHA:586
HP:0012872	Abnormal vas deferens morphology	3077	HFE	ORPHA:586
HP:0012872	Abnormal vas deferens morphology	11254	SLC6A14	ORPHA:586
HP:0012872	Abnormal vas deferens morphology	5265	SERPINA1	ORPHA:586
HP:0012872	Abnormal vas deferens morphology	22802	CLCA4	ORPHA:586
HP:0012872	Abnormal vas deferens morphology	4680	CEACAM6	ORPHA:586
HP:0012872	Abnormal vas deferens morphology	367	AR	OMIM:312300
HP:0012872	Abnormal vas deferens morphology	6928	HNF1B	ORPHA:93111
HP:0012877	Retrograde ejaculation	1621	DBH	ORPHA:230
HP:0012877	Retrograde ejaculation	1621	DBH	OMIM:223360
HP:0012873	Absent vas deferens	10149	ADGRG2	ORPHA:48
HP:0012873	Absent vas deferens	10149	ADGRG2	OMIM:300985
HP:0012873	Absent vas deferens	1080	CFTR	ORPHA:48
HP:0012873	Absent vas deferens	1080	CFTR	ORPHA:586
HP:0012873	Absent vas deferens	1080	CFTR	OMIM:277180
HP:0012873	Absent vas deferens	6804	STX1A	ORPHA:586
HP:0012873	Absent vas deferens	2947	GSTM3	ORPHA:586
HP:0012873	Absent vas deferens	7040	TGFB1	ORPHA:586
HP:0012873	Absent vas deferens	2729	GCLC	ORPHA:586
HP:0012873	Absent vas deferens	1084	CEACAM3	ORPHA:586
HP:0012873	Absent vas deferens	6556	SLC11A1	ORPHA:586
HP:0012873	Absent vas deferens	51164	DCTN4	ORPHA:586
HP:0012873	Absent vas deferens	3783	KCNN4	ORPHA:586
HP:0012873	Absent vas deferens	4282	MIF	ORPHA:586
HP:0012873	Absent vas deferens	1909	EDNRA	ORPHA:586
HP:0012873	Absent vas deferens	6550	SLC9A3	ORPHA:586
HP:0012873	Absent vas deferens	3162	HMOX1	ORPHA:586
HP:0012873	Absent vas deferens	115019	SLC26A9	ORPHA:586
HP:0012873	Absent vas deferens	3077	HFE	ORPHA:586
HP:0012873	Absent vas deferens	11254	SLC6A14	ORPHA:586
HP:0012873	Absent vas deferens	5265	SERPINA1	ORPHA:586
HP:0012873	Absent vas deferens	22802	CLCA4	ORPHA:586
HP:0012873	Absent vas deferens	4680	CEACAM6	ORPHA:586
HP:0012873	Absent vas deferens	367	AR	OMIM:312300
HP:0012873	Absent vas deferens	6928	HNF1B	ORPHA:93111
HP:0012874	Abnormal male reproductive system physiology	6804	STX1A	ORPHA:904
HP:0012874	Abnormal male reproductive system physiology	7461	CLIP2	ORPHA:904
HP:0012874	Abnormal male reproductive system physiology	84277	DNAJC30	ORPHA:904
HP:0012874	Abnormal male reproductive system physiology	8468	FKBP6	ORPHA:904
HP:0012874	Abnormal male reproductive system physiology	5982	RFC2	ORPHA:904
HP:0012874	Abnormal male reproductive system physiology	2969	GTF2I	ORPHA:904
HP:0012874	Abnormal male reproductive system physiology	3984	LIMK1	ORPHA:904
HP:0012874	Abnormal male reproductive system physiology	9569	GTF2IRD1	ORPHA:904
HP:0012874	Abnormal male reproductive system physiology	155382	VPS37D	ORPHA:904
HP:0012874	Abnormal male reproductive system physiology	155368	METTL27	ORPHA:904
HP:0012874	Abnormal male reproductive system physiology	114049	BUD23	ORPHA:904
HP:0012874	Abnormal male reproductive system physiology	7458	EIF4H	ORPHA:904
HP:0012874	Abnormal male reproductive system physiology	84163	GTF2IRD2	ORPHA:904
HP:0012874	Abnormal male reproductive system physiology	26608	TBL2	ORPHA:904
HP:0012874	Abnormal male reproductive system physiology	653361	NCF1	ORPHA:904
HP:0012874	Abnormal male reproductive system physiology	135886	TMEM270	ORPHA:904
HP:0012874	Abnormal male reproductive system physiology	9031	BAZ1B	ORPHA:904
HP:0012874	Abnormal male reproductive system physiology	2006	ELN	ORPHA:904
HP:0012874	Abnormal male reproductive system physiology	2260	FGFR1	ORPHA:432
HP:0012874	Abnormal male reproductive system physiology	81848	SPRY4	ORPHA:432
HP:0012874	Abnormal male reproductive system physiology	128674	PROKR2	ORPHA:432
HP:0012874	Abnormal male reproductive system physiology	2253	FGF8	ORPHA:432
HP:0012874	Abnormal male reproductive system physiology	60675	PROK2	ORPHA:432
HP:0012874	Abnormal male reproductive system physiology	55636	CHD7	ORPHA:432
HP:0012874	Abnormal male reproductive system physiology	6870	TACR3	ORPHA:432
HP:0012874	Abnormal male reproductive system physiology	1848	DUSP6	ORPHA:432
HP:0012874	Abnormal male reproductive system physiology	26012	NSMF	ORPHA:432
HP:0012874	Abnormal male reproductive system physiology	55717	WDR11	ORPHA:432
HP:0012874	Abnormal male reproductive system physiology	4808	NHLH2	ORPHA:432
HP:0012874	Abnormal male reproductive system physiology	9394	HS6ST1	ORPHA:432
HP:0012874	Abnormal male reproductive system physiology	2796	GNRH1	ORPHA:432
HP:0012874	Abnormal male reproductive system physiology	2798	GNRHR	ORPHA:432
HP:0012874	Abnormal male reproductive system physiology	84634	KISS1R	ORPHA:432
HP:0012874	Abnormal male reproductive system physiology	6866	TAC3	ORPHA:432
HP:0012874	Abnormal male reproductive system physiology	8822	FGF17	ORPHA:432
HP:0012874	Abnormal male reproductive system physiology	3814	KISS1	ORPHA:432
HP:0012874	Abnormal male reproductive system physiology	26160	IFT172	OMIM:619471
HP:0012874	Abnormal male reproductive system physiology	1497	CTNS	OMIM:219800
HP:0012874	Abnormal male reproductive system physiology	6662	SOX9	ORPHA:393
HP:0012874	Abnormal male reproductive system physiology	6658	SOX3	ORPHA:393
HP:0012874	Abnormal male reproductive system physiology	2516	NR5A1	ORPHA:393
HP:0012874	Abnormal male reproductive system physiology	6736	SRY	ORPHA:393
HP:0012874	Abnormal male reproductive system physiology	190	NR0B1	ORPHA:393
HP:0012874	Abnormal male reproductive system physiology	4204	MECP2	OMIM:300055
HP:0012874	Abnormal male reproductive system physiology	326	AIRE	OMIM:240300
HP:0012874	Abnormal male reproductive system physiology	64682	ANAPC1	OMIM:618625
HP:0012874	Abnormal male reproductive system physiology	493856	CISD2	ORPHA:3463
HP:0012874	Abnormal male reproductive system physiology	7466	WFS1	ORPHA:3463
HP:0012874	Abnormal male reproductive system physiology	7466	WFS1	ORPHA:411590
HP:0012874	Abnormal male reproductive system physiology	7555	CNBP	ORPHA:606
HP:0012874	Abnormal male reproductive system physiology	1161	ERCC8	ORPHA:90321
HP:0012874	Abnormal male reproductive system physiology	1161	ERCC8	ORPHA:90322
HP:0012874	Abnormal male reproductive system physiology	2072	ERCC4	ORPHA:90321
HP:0012874	Abnormal male reproductive system physiology	2074	ERCC6	ORPHA:90321
HP:0012874	Abnormal male reproductive system physiology	2074	ERCC6	ORPHA:90322
HP:0012874	Abnormal male reproductive system physiology	2067	ERCC1	ORPHA:90322
HP:0012874	Abnormal male reproductive system physiology	2488	FSHB	ORPHA:52901
HP:0012874	Abnormal male reproductive system physiology	1968	EIF2S3	OMIM:300148
HP:0012874	Abnormal male reproductive system physiology	5424	POLD1	OMIM:615381
HP:0012874	Abnormal male reproductive system physiology	3972	LHB	OMIM:228300
HP:0012874	Abnormal male reproductive system physiology	64072	CDH23	ORPHA:91347
HP:0012874	Abnormal male reproductive system physiology	64072	CDH23	ORPHA:2965
HP:0012874	Abnormal male reproductive system physiology	4221	MEN1	ORPHA:2965
HP:0012874	Abnormal male reproductive system physiology	9049	AIP	ORPHA:2965
HP:0012874	Abnormal male reproductive system physiology	5422	POLA1	ORPHA:163976
HP:0012874	Abnormal male reproductive system physiology	1586	CYP17A1	ORPHA:90793
HP:0012874	Abnormal male reproductive system physiology	50846	DHH	ORPHA:168563
HP:0012874	Abnormal male reproductive system physiology	1770	DNAH9	OMIM:618300
HP:0012874	Abnormal male reproductive system physiology	55240	STEAP3	OMIM:615234
HP:0012874	Abnormal male reproductive system physiology	55240	STEAP3	ORPHA:300298
HP:0012874	Abnormal male reproductive system physiology	84515	MCM8	OMIM:612885
HP:0012874	Abnormal male reproductive system physiology	148738	HJV	OMIM:602390
HP:0012874	Abnormal male reproductive system physiology	286	ANK1	ORPHA:251066
HP:0012874	Abnormal male reproductive system physiology	4438	MSH4	OMIM:108420
HP:0012874	Abnormal male reproductive system physiology	54361	WNT4	ORPHA:2578
HP:0012874	Abnormal male reproductive system physiology	6928	HNF1B	ORPHA:2578
HP:0012874	Abnormal male reproductive system physiology	55315	SLC29A3	OMIM:602782
HP:0012874	Abnormal male reproductive system physiology	55315	SLC29A3	ORPHA:168569
HP:0012874	Abnormal male reproductive system physiology	317761	C14orf39	OMIM:619202
HP:0012874	Abnormal male reproductive system physiology	641	BLM	OMIM:210900
HP:0012874	Abnormal male reproductive system physiology	641	BLM	ORPHA:125
HP:0012874	Abnormal male reproductive system physiology	3284	HSD3B2	ORPHA:90791
HP:0012874	Abnormal male reproductive system physiology	4952	OCRL	ORPHA:534
HP:0012874	Abnormal male reproductive system physiology	8915	BCL10	OMIM:273300
HP:0012874	Abnormal male reproductive system physiology	2261	FGFR3	OMIM:273300
HP:0012874	Abnormal male reproductive system physiology	3815	KIT	OMIM:273300
HP:0012874	Abnormal male reproductive system physiology	6794	STK11	OMIM:273300
HP:0012874	Abnormal male reproductive system physiology	2629	GBA1	ORPHA:2072
HP:0012874	Abnormal male reproductive system physiology	79184	BRCC3	ORPHA:280679
HP:0012874	Abnormal male reproductive system physiology	672	BRCA1	ORPHA:84
HP:0012874	Abnormal male reproductive system physiology	10459	MAD2L2	ORPHA:84
HP:0012874	Abnormal male reproductive system physiology	29089	UBE2T	ORPHA:84
HP:0012874	Abnormal male reproductive system physiology	675	BRCA2	ORPHA:84
HP:0012874	Abnormal male reproductive system physiology	55120	FANCL	ORPHA:84
HP:0012874	Abnormal male reproductive system physiology	2177	FANCD2	ORPHA:84
HP:0012874	Abnormal male reproductive system physiology	2175	FANCA	ORPHA:84
HP:0012874	Abnormal male reproductive system physiology	2187	FANCB	ORPHA:84
HP:0012874	Abnormal male reproductive system physiology	2176	FANCC	ORPHA:84
HP:0012874	Abnormal male reproductive system physiology	2178	FANCE	ORPHA:84
HP:0012874	Abnormal male reproductive system physiology	2188	FANCF	ORPHA:84
HP:0012874	Abnormal male reproductive system physiology	2189	FANCG	ORPHA:84
HP:0012874	Abnormal male reproductive system physiology	5888	RAD51	ORPHA:84
HP:0012874	Abnormal male reproductive system physiology	5889	RAD51C	ORPHA:84
HP:0012874	Abnormal male reproductive system physiology	55159	RFWD3	ORPHA:84
HP:0012874	Abnormal male reproductive system physiology	83990	BRIP1	ORPHA:84
HP:0012874	Abnormal male reproductive system physiology	79728	PALB2	ORPHA:84
HP:0012874	Abnormal male reproductive system physiology	84464	SLX4	ORPHA:84
HP:0012874	Abnormal male reproductive system physiology	55215	FANCI	ORPHA:84
HP:0012874	Abnormal male reproductive system physiology	56246	MRAP	ORPHA:361
HP:0012874	Abnormal male reproductive system physiology	6770	STAR	ORPHA:361
HP:0012874	Abnormal male reproductive system physiology	4158	MC2R	ORPHA:361
HP:0012874	Abnormal male reproductive system physiology	23530	NNT	ORPHA:361
HP:0012874	Abnormal male reproductive system physiology	10587	TXNRD2	ORPHA:361
HP:0012874	Abnormal male reproductive system physiology	93953	GCNA	OMIM:301077
HP:0012874	Abnormal male reproductive system physiology	10149	ADGRG2	OMIM:300985
HP:0012874	Abnormal male reproductive system physiology	84984	CEP19	OMIM:615703
HP:0012874	Abnormal male reproductive system physiology	6845	VAMP7	ORPHA:251510
HP:0012874	Abnormal male reproductive system physiology	51741	WWOX	ORPHA:251510
HP:0012874	Abnormal male reproductive system physiology	4214	MAP3K1	ORPHA:251510
HP:0012874	Abnormal male reproductive system physiology	7490	WT1	ORPHA:251510
HP:0012874	Abnormal male reproductive system physiology	57647	DHX37	ORPHA:251510
HP:0012874	Abnormal male reproductive system physiology	23414	ZFPM2	ORPHA:251510
HP:0012874	Abnormal male reproductive system physiology	2626	GATA4	ORPHA:251510
HP:0012874	Abnormal male reproductive system physiology	130951	M1AP	OMIM:619108
HP:0012874	Abnormal male reproductive system physiology	9082	XKRY	OMIM:415000
HP:0012874	Abnormal male reproductive system physiology	9084	VCY	OMIM:415000
HP:0012874	Abnormal male reproductive system physiology	86614	HSFY1	OMIM:415000
HP:0012874	Abnormal male reproductive system physiology	9426	CDY2A	OMIM:415000
HP:0012874	Abnormal male reproductive system physiology	9085	CDY1	OMIM:415000
HP:0012874	Abnormal male reproductive system physiology	442862	PRY2	OMIM:415000
HP:0012874	Abnormal male reproductive system physiology	9081	PRY	OMIM:415000
HP:0012874	Abnormal male reproductive system physiology	9083	BPY2	OMIM:415000
HP:0012874	Abnormal male reproductive system physiology	140032	RPS4Y2	OMIM:415000
HP:0012874	Abnormal male reproductive system physiology	8284	KDM5D	OMIM:415000
HP:0012874	Abnormal male reproductive system physiology	6342	SCP2	OMIM:613724
HP:0012874	Abnormal male reproductive system physiology	650	BMP2	OMIM:235200
HP:0012874	Abnormal male reproductive system physiology	7840	ALMS1	ORPHA:64
HP:0012874	Abnormal male reproductive system physiology	255101	CFAP65	OMIM:618664
HP:0012874	Abnormal male reproductive system physiology	124404	SEPTIN12	OMIM:614822
HP:0012874	Abnormal male reproductive system physiology	221481	ARMC12	OMIM:620744
HP:0012874	Abnormal male reproductive system physiology	92749	DRC1	OMIM:620222
HP:0012874	Abnormal male reproductive system physiology	2908	NR3C1	ORPHA:786
HP:0012874	Abnormal male reproductive system physiology	5447	POR	ORPHA:95699
HP:0012874	Abnormal male reproductive system physiology	286464	CFAP47	OMIM:301059
HP:0012874	Abnormal male reproductive system physiology	84071	ARMC2	OMIM:618433
HP:0012874	Abnormal male reproductive system physiology	118491	CFAP70	OMIM:618670
HP:0012874	Abnormal male reproductive system physiology	54014	BRWD1	OMIM:620438
HP:0012874	Abnormal male reproductive system physiology	64518	TEKT3	OMIM:620277
HP:0012874	Abnormal male reproductive system physiology	5573	PRKAR1A	ORPHA:1359
HP:0012874	Abnormal male reproductive system physiology	50940	PDE11A	ORPHA:1359
HP:0012874	Abnormal male reproductive system physiology	157855	KCNU1	OMIM:620196
HP:0012874	Abnormal male reproductive system physiology	10388	SYCP2	OMIM:258150
HP:0012874	Abnormal male reproductive system physiology	8632	DNAH17	OMIM:618643
HP:0012874	Abnormal male reproductive system physiology	140732	SUN5	ORPHA:529970
HP:0012874	Abnormal male reproductive system physiology	83449	PMFBP1	ORPHA:529970
HP:0012874	Abnormal male reproductive system physiology	89876	CFAP91	OMIM:619177
HP:0012874	Abnormal male reproductive system physiology	881	CCIN	OMIM:620838
HP:0012874	Abnormal male reproductive system physiology	10233	LRRC23	OMIM:620848
HP:0012874	Abnormal male reproductive system physiology	3973	LHCGR	ORPHA:3000
HP:0012874	Abnormal male reproductive system physiology	1538	CYLC1	OMIM:301119
HP:0012874	Abnormal male reproductive system physiology	22873	DZIP1	OMIM:619102
HP:0012874	Abnormal male reproductive system physiology	26074	CFAP61	OMIM:620409
HP:0012874	Abnormal male reproductive system physiology	65975	STK33	OMIM:620849
HP:0012874	Abnormal male reproductive system physiology	80173	IFT74	OMIM:619585
HP:0012874	Abnormal male reproductive system physiology	84168	ANTXR1	ORPHA:2067
HP:0012874	Abnormal male reproductive system physiology	117144	CATSPER1	OMIM:612997
HP:0012874	Abnormal male reproductive system physiology	57639	CCDC146	OMIM:620850
HP:0012874	Abnormal male reproductive system physiology	25886	POC1A	OMIM:614813
HP:0012874	Abnormal male reproductive system physiology	8913	CACNA1G	ORPHA:458803
HP:0012874	Abnormal male reproductive system physiology	2982	GUCY1A1	OMIM:615750
HP:0012874	Abnormal male reproductive system physiology	8314	BAP1	ORPHA:2495
HP:0012874	Abnormal male reproductive system physiology	4771	NF2	ORPHA:2495
HP:0012874	Abnormal male reproductive system physiology	6598	SMARCB1	ORPHA:2495
HP:0012874	Abnormal male reproductive system physiology	5155	PDGFB	ORPHA:2495
HP:0012874	Abnormal male reproductive system physiology	84231	TRAF7	ORPHA:2495
HP:0012874	Abnormal male reproductive system physiology	6608	SMO	ORPHA:2495
HP:0012874	Abnormal male reproductive system physiology	207	AKT1	ORPHA:2495
HP:0012874	Abnormal male reproductive system physiology	5290	PIK3CA	ORPHA:2495
HP:0012874	Abnormal male reproductive system physiology	7015	TERT	ORPHA:2495
HP:0012874	Abnormal male reproductive system physiology	51684	SUFU	ORPHA:2495
HP:0012874	Abnormal male reproductive system physiology	6605	SMARCE1	ORPHA:2495
HP:0012874	Abnormal male reproductive system physiology	27235	COQ2	OMIM:146500
HP:0012874	Abnormal male reproductive system physiology	83550	GPR101	ORPHA:963
HP:0012874	Abnormal male reproductive system physiology	7036	TFR2	OMIM:604250
HP:0012874	Abnormal male reproductive system physiology	2332	FMR1	ORPHA:93256
HP:0012874	Abnormal male reproductive system physiology	2332	FMR1	OMIM:300623
HP:0012874	Abnormal male reproductive system physiology	7276	TTR	OMIM:105210
HP:0012874	Abnormal male reproductive system physiology	7276	TTR	ORPHA:85447
HP:0012874	Abnormal male reproductive system physiology	5277	PIGA	ORPHA:447
HP:0012874	Abnormal male reproductive system physiology	724066	ATXN8	ORPHA:98760
HP:0012874	Abnormal male reproductive system physiology	6315	ATXN8OS	ORPHA:98760
HP:0012874	Abnormal male reproductive system physiology	26278	SACS	ORPHA:98
HP:0012874	Abnormal male reproductive system physiology	3074	HEXB	OMIM:268800
HP:0012874	Abnormal male reproductive system physiology	57817	HAMP	ORPHA:79230
HP:0012874	Abnormal male reproductive system physiology	30061	SLC40A1	OMIM:606069
HP:0012874	Abnormal male reproductive system physiology	472	ATM	OMIM:208900
HP:0012874	Abnormal male reproductive system physiology	161497	STRC	OMIM:611102
HP:0012874	Abnormal male reproductive system physiology	117155	CATSPER2	OMIM:611102
HP:0012874	Abnormal male reproductive system physiology	56154	TEX15	ORPHA:399805
HP:0012874	Abnormal male reproductive system physiology	6875	TAF4B	ORPHA:399805
HP:0012874	Abnormal male reproductive system physiology	7516	XRCC2	ORPHA:399805
HP:0012874	Abnormal male reproductive system physiology	254528	MEIOB	ORPHA:399805
HP:0012874	Abnormal male reproductive system physiology	10734	STAG3	ORPHA:399805
HP:0012874	Abnormal male reproductive system physiology	145645	TERB2	ORPHA:399805
HP:0012874	Abnormal male reproductive system physiology	54967	CT55	ORPHA:399805
HP:0012874	Abnormal male reproductive system physiology	4439	MSH5	ORPHA:399805
HP:0012874	Abnormal male reproductive system physiology	283847	TERB1	ORPHA:399805
HP:0012874	Abnormal male reproductive system physiology	402381	SOHLH1	ORPHA:399805
HP:0012874	Abnormal male reproductive system physiology	56159	TEX11	ORPHA:399805
HP:0012874	Abnormal male reproductive system physiology	144132	DNHD1	ORPHA:399805
HP:0012874	Abnormal male reproductive system physiology	1080	CFTR	ORPHA:399805
HP:0012874	Abnormal male reproductive system physiology	50511	SYCP3	ORPHA:399805
HP:0012874	Abnormal male reproductive system physiology	285498	RNF212	ORPHA:399805
HP:0012874	Abnormal male reproductive system physiology	54456	MOV10L1	ORPHA:399805
HP:0012874	Abnormal male reproductive system physiology	56155	TEX14	ORPHA:399805
HP:0012874	Abnormal male reproductive system physiology	91057	CCDC34	ORPHA:399805
HP:0012874	Abnormal male reproductive system physiology	375307	CATIP	ORPHA:399805
HP:0012874	Abnormal male reproductive system physiology	196385	DNAH10	ORPHA:399805
HP:0012874	Abnormal male reproductive system physiology	140801	RPL10L	ORPHA:399805
HP:0012874	Abnormal male reproductive system physiology	317719	KLHL10	ORPHA:399805
HP:0012874	Abnormal male reproductive system physiology	200162	SPAG17	ORPHA:399805
HP:0012874	Abnormal male reproductive system physiology	57697	FANCM	ORPHA:399805
HP:0012874	Abnormal male reproductive system physiology	84225	ZMYND15	ORPHA:399805
HP:0012874	Abnormal male reproductive system physiology	122402	TDRD9	ORPHA:399805
HP:0012874	Abnormal male reproductive system physiology	154197	PNLDC1	ORPHA:399805
HP:0012874	Abnormal male reproductive system physiology	93426	SYCE1	ORPHA:399805
HP:0012874	Abnormal male reproductive system physiology	340719	NANOS1	ORPHA:399805
HP:0012874	Abnormal male reproductive system physiology	286151	FBXO43	ORPHA:399805
HP:0012874	Abnormal male reproductive system physiology	158401	SHOC1	ORPHA:399805
HP:0012874	Abnormal male reproductive system physiology	5161	PDHA2	ORPHA:399805
HP:0012874	Abnormal male reproductive system physiology	7258	TSPY1	ORPHA:1646
HP:0012874	Abnormal male reproductive system physiology	57055	DAZ2	ORPHA:1646
HP:0012874	Abnormal male reproductive system physiology	57135	DAZ4	ORPHA:1646
HP:0012874	Abnormal male reproductive system physiology	8287	USP9Y	ORPHA:1646
HP:0012874	Abnormal male reproductive system physiology	5940	RBMY1A1	ORPHA:1646
HP:0012874	Abnormal male reproductive system physiology	57054	DAZ3	ORPHA:1646
HP:0012874	Abnormal male reproductive system physiology	8653	DDX3Y	ORPHA:1646
HP:0012874	Abnormal male reproductive system physiology	1617	DAZ1	ORPHA:1646
HP:0012874	Abnormal male reproductive system physiology	24145	PANX1	ORPHA:488191
HP:0012874	Abnormal male reproductive system physiology	494551	WEE2	ORPHA:488191
HP:0012874	Abnormal male reproductive system physiology	197135	PATL2	ORPHA:488191
HP:0012874	Abnormal male reproductive system physiology	347688	TUBB8	ORPHA:488191
HP:0012874	Abnormal male reproductive system physiology	6691	SPINK2	OMIM:618091
HP:0012874	Abnormal male reproductive system physiology	125150	ZSWIM7	OMIM:619831
HP:0012874	Abnormal male reproductive system physiology	147872	KASH5	OMIM:620547
HP:0012874	Abnormal male reproductive system physiology	84690	SPATA22	OMIM:621001
HP:0012874	Abnormal male reproductive system physiology	9075	CLDN2	OMIM:301060
HP:0012874	Abnormal male reproductive system physiology	25981	DNAH1	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	115948	ODAD3	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	54768	HYDIN	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	352909	DNAAF3	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	27148	STK36	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	51314	NME8	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	54970	TTC12	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	152110	NEK10	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	8481	OFD1	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	2302	FOXJ1	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	221421	RSPH9	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	85478	CCDC65	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	55036	CCDC40	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	51364	ZMYND10	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	64446	DNAI2	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	8382	NME5	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	6674	SPAG1	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	83544	DNAL1	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	89765	RSPH1	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	83538	ODAD4	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	200373	CFAP221	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	374407	DNAJB13	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	55172	DNAAF2	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	161582	DNAAF4	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	2622	GAS8	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	23639	DNAAF11	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	27019	DNAI1	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	345895	RSPH4A	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	54919	DNAAF5	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	6103	RPGR	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	85452	CFAP74	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	93233	ODAD1	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	55130	ODAD2	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	1767	DNAH5	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	83861	RSPH3	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	345643	MCIDAS	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	56683	CFAP298	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	79925	SPEF2	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	10309	CCNO	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	115399	LRRC56	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	139212	DNAAF6	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	123872	DNAAF1	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	85016	CFAP300	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	339829	CCDC39	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	8701	DNAH11	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	246176	GAS2L2	ORPHA:244
HP:0012874	Abnormal male reproductive system physiology	23568	ARL2BP	OMIM:615434
HP:0012874	Abnormal male reproductive system physiology	199223	TTC21A	OMIM:618429
HP:0012874	Abnormal male reproductive system physiology	83894	TTC29	OMIM:618745
HP:0012874	Abnormal male reproductive system physiology	755	CFAP410	OMIM:602271
HP:0012874	Abnormal male reproductive system physiology	6756	SSX1	OMIM:301099
HP:0012874	Abnormal male reproductive system physiology	144406	CFAP251	OMIM:618152
HP:0012874	Abnormal male reproductive system physiology	201134	CEP112	OMIM:619044
HP:0012874	Abnormal male reproductive system physiology	401024	FSIP2	OMIM:618153
HP:0012874	Abnormal male reproductive system physiology	57704	GBA2	ORPHA:320391
HP:0012874	Abnormal male reproductive system physiology	56171	DNAH7	OMIM:620356
HP:0012874	Abnormal male reproductive system physiology	7802	DNALI1	OMIM:620354
HP:0012874	Abnormal male reproductive system physiology	146754	DNAH2	OMIM:619094
HP:0012874	Abnormal male reproductive system physiology	83844	USP26	OMIM:301101
HP:0012874	Abnormal male reproductive system physiology	1769	DNAH8	OMIM:619095
HP:0012874	Abnormal male reproductive system physiology	51726	DNAJB11	ORPHA:730
HP:0012874	Abnormal male reproductive system physiology	23193	GANAB	ORPHA:730
HP:0012874	Abnormal male reproductive system physiology	5310	PKD1	ORPHA:730
HP:0012874	Abnormal male reproductive system physiology	5311	PKD2	ORPHA:730
HP:0012874	Abnormal male reproductive system physiology	29880	ALG5	ORPHA:730
HP:0012874	Abnormal male reproductive system physiology	9742	IFT140	ORPHA:730
HP:0012874	Abnormal male reproductive system physiology	79796	ALG9	ORPHA:730
HP:0012874	Abnormal male reproductive system physiology	80114	BICC1	ORPHA:730
HP:0012874	Abnormal male reproductive system physiology	80217	CFAP43	OMIM:617592
HP:0012874	Abnormal male reproductive system physiology	79846	CFAP69	OMIM:617959
HP:0012874	Abnormal male reproductive system physiology	116369	SLC26A8	OMIM:606766
HP:0012874	Abnormal male reproductive system physiology	159686	CFAP58	OMIM:619144
HP:0012874	Abnormal male reproductive system physiology	122481	AK7	OMIM:617965
HP:0012874	Abnormal male reproductive system physiology	676	BRDT	OMIM:617644
HP:0012874	Abnormal male reproductive system physiology	8556	CDC14A	OMIM:608653
HP:0012874	Abnormal male reproductive system physiology	1621	DBH	ORPHA:230
HP:0012874	Abnormal male reproductive system physiology	1621	DBH	OMIM:223360
HP:0012874	Abnormal male reproductive system physiology	81833	SPACA1	OMIM:620490
HP:0012874	Abnormal male reproductive system physiology	25790	CFAP45	OMIM:619608
HP:0012874	Abnormal male reproductive system physiology	57728	WDR19	OMIM:619867
HP:0012874	Abnormal male reproductive system physiology	10566	AKAP3	OMIM:620353
HP:0012874	Abnormal male reproductive system physiology	1027	CDKN1B	ORPHA:652
HP:0012874	Abnormal male reproductive system physiology	1026	CDKN1A	ORPHA:652
HP:0012874	Abnormal male reproductive system physiology	1030	CDKN2B	ORPHA:652
HP:0012874	Abnormal male reproductive system physiology	1031	CDKN2C	ORPHA:652
HP:0012874	Abnormal male reproductive system physiology	367	AR	ORPHA:90797
HP:0012874	Abnormal male reproductive system physiology	6253	RTN2	ORPHA:100993
HP:0012874	Abnormal male reproductive system physiology	51271	UBAP1	ORPHA:100993
HP:0012874	Abnormal male reproductive system physiology	54832	VPS13C	ORPHA:2828
HP:0012874	Abnormal male reproductive system physiology	11315	PARK7	ORPHA:2828
HP:0012874	Abnormal male reproductive system physiology	7345	UCHL1	ORPHA:2828
HP:0012874	Abnormal male reproductive system physiology	27429	HTRA2	ORPHA:2828
HP:0012874	Abnormal male reproductive system physiology	120892	LRRK2	ORPHA:2828
HP:0012874	Abnormal male reproductive system physiology	9829	DNAJC6	ORPHA:2828
HP:0012874	Abnormal male reproductive system physiology	6622	SNCA	ORPHA:2828
HP:0012874	Abnormal male reproductive system physiology	5420	PODXL	ORPHA:2828
HP:0012874	Abnormal male reproductive system physiology	65018	PINK1	ORPHA:2828
HP:0012874	Abnormal male reproductive system physiology	8867	SYNJ1	ORPHA:2828
HP:0012874	Abnormal male reproductive system physiology	5071	PRKN	ORPHA:2828
HP:0012874	Abnormal male reproductive system physiology	1512	CTSH	ORPHA:2073
HP:0012874	Abnormal male reproductive system physiology	5032	P2RY11	ORPHA:2073
HP:0012874	Abnormal male reproductive system physiology	4340	MOG	ORPHA:2073
HP:0012874	Abnormal male reproductive system physiology	3119	HLA-DQB1	ORPHA:2073
HP:0012874	Abnormal male reproductive system physiology	3060	HCRT	ORPHA:2073
HP:0012874	Abnormal male reproductive system physiology	22891	ZNF365	ORPHA:2073
HP:0012874	Abnormal male reproductive system physiology	7292	TNFSF4	ORPHA:2073
HP:0012874	Abnormal male reproductive system physiology	3123	HLA-DRB1	ORPHA:2073
HP:0012874	Abnormal male reproductive system physiology	215	ABCD1	ORPHA:139399
HP:0012874	Abnormal male reproductive system physiology	654	BMP6	ORPHA:465508
HP:0012874	Abnormal male reproductive system physiology	3077	HFE	ORPHA:465508
HP:0012874	Abnormal male reproductive system physiology	2581	GALC	ORPHA:206448
HP:0012874	Abnormal male reproductive system physiology	3662	IRF4	ORPHA:3452
HP:0012874	Abnormal male reproductive system physiology	4693	NDP	ORPHA:649
HP:0012874	Abnormal male reproductive system physiology	4001	LMNB1	ORPHA:99027
HP:0012874	Abnormal male reproductive system physiology	10371	SEMA3A	ORPHA:478
HP:0012874	Abnormal male reproductive system physiology	23767	FLRT3	ORPHA:478
HP:0012874	Abnormal male reproductive system physiology	79625	NDNF	ORPHA:478
HP:0012874	Abnormal male reproductive system physiology	389549	FEZF1	ORPHA:478
HP:0012874	Abnormal male reproductive system physiology	1630	DCC	ORPHA:478
HP:0012874	Abnormal male reproductive system physiology	3730	ANOS1	ORPHA:478
HP:0012874	Abnormal male reproductive system physiology	54756	IL17RD	ORPHA:478
HP:0012874	Abnormal male reproductive system physiology	6663	SOX10	ORPHA:478
HP:0012874	Abnormal male reproductive system physiology	285025	CCDC141	ORPHA:478
HP:0012874	Abnormal male reproductive system physiology	8820	HESX1	ORPHA:478
HP:0012874	Abnormal male reproductive system physiology	3043	HBB	ORPHA:232
HP:0012874	Abnormal male reproductive system physiology	3043	HBB	OMIM:603903
HP:0012875	Abnormal ejaculation	1621	DBH	ORPHA:230
HP:0012875	Abnormal ejaculation	1621	DBH	OMIM:223360
HP:0007569	Generalized seborrheic dermatitis	727	C5	OMIM:609536
HP:0000966	Hypohidrosis	1497	CTNS	OMIM:219800
HP:0000966	Hypohidrosis	54084	TSPEAR	OMIM:618180
HP:0000966	Hypohidrosis	60529	ALX4	OMIM:613451
HP:0000966	Hypohidrosis	54101	RIPK4	ORPHA:1401
HP:0000966	Hypohidrosis	8518	ELP1	ORPHA:1764
HP:0000966	Hypohidrosis	85446	ZFHX2	OMIM:147430
HP:0000966	Hypohidrosis	128178	EDARADD	OMIM:614940
HP:0000966	Hypohidrosis	128178	EDARADD	OMIM:129490
HP:0000966	Hypohidrosis	128178	EDARADD	OMIM:224900
HP:0000966	Hypohidrosis	128178	EDARADD	ORPHA:248
HP:0000966	Hypohidrosis	128178	EDARADD	ORPHA:1810
HP:0000966	Hypohidrosis	29926	GMPPA	OMIM:615510
HP:0000966	Hypohidrosis	8573	CASK	OMIM:300749
HP:0000966	Hypohidrosis	85358	SHANK3	OMIM:606232
HP:0000966	Hypohidrosis	27235	COQ2	OMIM:146500
HP:0000966	Hypohidrosis	1161	ERCC8	ORPHA:90321
HP:0000966	Hypohidrosis	2072	ERCC4	ORPHA:90321
HP:0000966	Hypohidrosis	2074	ERCC6	ORPHA:90321
HP:0000966	Hypohidrosis	57511	COG6	ORPHA:363523
HP:0000966	Hypohidrosis	57511	COG6	OMIM:614576
HP:0000966	Hypohidrosis	57511	COG6	OMIM:615328
HP:0000966	Hypohidrosis	3074	HEXB	OMIM:268800
HP:0000966	Hypohidrosis	113179	ADAT3	ORPHA:363528
HP:0000966	Hypohidrosis	6335	SCN9A	OMIM:243000
HP:0000966	Hypohidrosis	7051	TGM1	ORPHA:100976
HP:0000966	Hypohidrosis	7051	TGM1	ORPHA:79394
HP:0000966	Hypohidrosis	4792	NFKBIA	OMIM:612132
HP:0000966	Hypohidrosis	4792	NFKBIA	ORPHA:98813
HP:0000966	Hypohidrosis	5818	NECTIN1	ORPHA:3253
HP:0000966	Hypohidrosis	170302	ARX	ORPHA:452
HP:0000966	Hypohidrosis	1896	EDA	OMIM:305100
HP:0000966	Hypohidrosis	1896	EDA	ORPHA:181
HP:0000966	Hypohidrosis	9071	CLDN10	OMIM:617671
HP:0000966	Hypohidrosis	51360	MBTPS2	ORPHA:2273
HP:0000966	Hypohidrosis	51360	MBTPS2	OMIM:308205
HP:0000966	Hypohidrosis	284252	KCTD1	ORPHA:2036
HP:0000966	Hypohidrosis	284252	KCTD1	OMIM:181270
HP:0000966	Hypohidrosis	6786	STIM1	OMIM:612783
HP:0000966	Hypohidrosis	6663	SOX10	ORPHA:163746
HP:0000966	Hypohidrosis	6663	SOX10	OMIM:609136
HP:0000966	Hypohidrosis	412	STS	ORPHA:281090
HP:0000966	Hypohidrosis	412	STS	OMIM:308100
HP:0000966	Hypohidrosis	412	STS	ORPHA:461
HP:0000966	Hypohidrosis	9325	TRIP4	OMIM:616866
HP:0000966	Hypohidrosis	80326	WNT10A	OMIM:257980
HP:0000966	Hypohidrosis	80326	WNT10A	OMIM:150400
HP:0000966	Hypohidrosis	80326	WNT10A	ORPHA:248
HP:0000966	Hypohidrosis	2717	GLA	ORPHA:324
HP:0000966	Hypohidrosis	2717	GLA	OMIM:301500
HP:0000966	Hypohidrosis	6768	ST14	OMIM:602400
HP:0000966	Hypohidrosis	1301	COL11A1	ORPHA:560
HP:0000966	Hypohidrosis	204219	CERS3	OMIM:615023
HP:0000966	Hypohidrosis	204219	CERS3	ORPHA:79394
HP:0000966	Hypohidrosis	1474	CST6	OMIM:618535
HP:0000966	Hypohidrosis	374393	FAM111B	OMIM:615704
HP:0000966	Hypohidrosis	8517	IKBKG	ORPHA:98813
HP:0000966	Hypohidrosis	59344	ALOXE3	OMIM:242100
HP:0000966	Hypohidrosis	59344	ALOXE3	OMIM:606545
HP:0000966	Hypohidrosis	59344	ALOXE3	ORPHA:79394
HP:0000966	Hypohidrosis	242	ALOX12B	OMIM:242100
HP:0000966	Hypohidrosis	242	ALOX12B	ORPHA:79394
HP:0000966	Hypohidrosis	10804	GJB6	ORPHA:477
HP:0000966	Hypohidrosis	2706	GJB2	ORPHA:477
HP:0000966	Hypohidrosis	2706	GJB2	OMIM:148210
HP:0000966	Hypohidrosis	348938	NIPAL4	OMIM:612281
HP:0000966	Hypohidrosis	348938	NIPAL4	ORPHA:79394
HP:0000966	Hypohidrosis	126695	KDF1	OMIM:617337
HP:0000966	Hypohidrosis	126695	KDF1	ORPHA:1810
HP:0000966	Hypohidrosis	59335	PRDM12	OMIM:616488
HP:0000966	Hypohidrosis	8626	TP63	OMIM:129400
HP:0000966	Hypohidrosis	8626	TP63	OMIM:603543
HP:0000966	Hypohidrosis	8626	TP63	ORPHA:69085
HP:0000966	Hypohidrosis	8626	TP63	ORPHA:1896
HP:0000966	Hypohidrosis	10913	EDAR	OMIM:129490
HP:0000966	Hypohidrosis	10913	EDAR	OMIM:224900
HP:0000966	Hypohidrosis	10913	EDAR	ORPHA:248
HP:0000966	Hypohidrosis	10913	EDAR	ORPHA:1810
HP:0000966	Hypohidrosis	3861	KRT14	OMIM:161000
HP:0000966	Hypohidrosis	3861	KRT14	ORPHA:69087
HP:0000966	Hypohidrosis	3861	KRT14	OMIM:125595
HP:0000966	Hypohidrosis	2312	FLG	ORPHA:461
HP:0000966	Hypohidrosis	60401	EDA2R	ORPHA:181
HP:0000966	Hypohidrosis	8567	MADD	OMIM:619004
HP:0000966	Hypohidrosis	6785	ELOVL4	ORPHA:1955
HP:0000966	Hypohidrosis	5422	POLA1	OMIM:301220
HP:0000966	Hypohidrosis	5317	PKP1	ORPHA:158668
HP:0000966	Hypohidrosis	3977	LIFR	ORPHA:3206
HP:0000966	Hypohidrosis	284111	SLC13A5	ORPHA:1946
HP:0000966	Hypohidrosis	79641	ROGDI	ORPHA:1946
HP:0000966	Hypohidrosis	1476	CSTB	ORPHA:248
HP:0000966	Hypohidrosis	23529	CLCF1	ORPHA:1545
HP:0000966	Hypohidrosis	9244	CRLF1	ORPHA:1545
HP:0000966	Hypohidrosis	6820	SULT2B1	ORPHA:79394
HP:0000966	Hypohidrosis	26154	ABCA12	ORPHA:79394
HP:0000966	Hypohidrosis	285848	PNPLA1	ORPHA:79394
HP:0000966	Hypohidrosis	121214	SDR9C7	ORPHA:79394
HP:0000966	Hypohidrosis	2260	FGFR1	ORPHA:3157
HP:0000966	Hypohidrosis	128674	PROKR2	ORPHA:3157
HP:0000966	Hypohidrosis	6657	SOX2	ORPHA:3157
HP:0000966	Hypohidrosis	6658	SOX3	ORPHA:3157
HP:0000966	Hypohidrosis	9915	ARNT2	ORPHA:3157
HP:0000966	Hypohidrosis	8820	HESX1	ORPHA:3157
HP:0000966	Hypohidrosis	5015	OTX2	ORPHA:3157
HP:0000966	Hypohidrosis	2690	GHR	ORPHA:633
HP:0000966	Hypohidrosis	56916	SMARCAD1	ORPHA:1658
HP:0000966	Hypohidrosis	7189	TRAF6	ORPHA:1810
HP:0000966	Hypohidrosis	4001	LMNB1	OMIM:169500
HP:0000966	Hypohidrosis	4001	LMNB1	ORPHA:99027
HP:0007552	Abnormal subcutaneous fat tissue distribution	5373	PMM2	ORPHA:79318
HP:0007552	Abnormal subcutaneous fat tissue distribution	5373	PMM2	OMIM:212065
HP:0007552	Abnormal subcutaneous fat tissue distribution	7040	TGFB1	ORPHA:1328
HP:0007552	Abnormal subcutaneous fat tissue distribution	23545	ATP6V0A2	ORPHA:357074
HP:0007552	Abnormal subcutaneous fat tissue distribution	523	ATP6V1A	ORPHA:357074
HP:0007552	Abnormal subcutaneous fat tissue distribution	529	ATP6V1E1	ORPHA:357074
HP:0007552	Abnormal subcutaneous fat tissue distribution	79718	TBL1XR1	ORPHA:487825
HP:0007552	Abnormal subcutaneous fat tissue distribution	207	AKT1	ORPHA:744
HP:0007553	Congenital symmetrical palmoplantar keratosis	57152	SLURP1	OMIM:248300
HP:0001810	Dystrophic toenail	6335	SCN9A	ORPHA:970
HP:0001810	Dystrophic toenail	65125	WNK1	ORPHA:970
HP:0001810	Dystrophic toenail	54463	RETREG1	ORPHA:970
HP:0001810	Dystrophic toenail	547	KIF1A	ORPHA:970
HP:0001810	Dystrophic toenail	1294	COL7A1	OMIM:607523
HP:0001810	Dystrophic toenail	1294	COL7A1	ORPHA:231568
HP:0001810	Dystrophic toenail	1294	COL7A1	ORPHA:158676
HP:0001810	Dystrophic toenail	1294	COL7A1	ORPHA:158673
HP:0001810	Dystrophic toenail	3861	KRT14	ORPHA:89838
HP:0001810	Dystrophic toenail	3861	KRT14	ORPHA:69087
HP:0001810	Dystrophic toenail	54800	KLHL24	OMIM:617294
HP:0001810	Dystrophic toenail	3852	KRT5	OMIM:619594
HP:0001810	Dystrophic toenail	80326	WNT10A	OMIM:150400
HP:0001810	Dystrophic toenail	80326	WNT10A	OMIM:257980
HP:0001810	Dystrophic toenail	4851	NOTCH1	OMIM:616028
HP:0001810	Dystrophic toenail	121391	KRT74	OMIM:614929
HP:0001810	Dystrophic toenail	8517	IKBKG	ORPHA:464
HP:0001810	Dystrophic toenail	7879	RAB7A	OMIM:600882
HP:0001810	Dystrophic toenail	4000	LMNA	ORPHA:740
HP:0001810	Dystrophic toenail	10269	ZMPSTE24	ORPHA:740
HP:0001810	Dystrophic toenail	64065	PERP	OMIM:619209
HP:0001810	Dystrophic toenail	860	RUNX2	ORPHA:1452
HP:0001810	Dystrophic toenail	667	DST	OMIM:615425
HP:0001810	Dystrophic toenail	5818	NECTIN1	ORPHA:3253
HP:0001810	Dystrophic toenail	6605	SMARCE1	OMIM:616938
HP:0001810	Dystrophic toenail	1308	COL17A1	ORPHA:251393
HP:0001810	Dystrophic toenail	3691	ITGB4	ORPHA:251393
HP:0007559	Localized epidermolytic hyperkeratosis	7051	TGM1	ORPHA:281127
HP:0007559	Localized epidermolytic hyperkeratosis	3857	KRT9	OMIM:144200
HP:0007541	Frontal cutaneous lipoma	257	ALX3	OMIM:136760
HP:0012880	Abnormal labia minora morphology	471	ATIC	ORPHA:250977
HP:0012880	Abnormal labia minora morphology	471	ATIC	OMIM:608688
HP:0012880	Abnormal labia minora morphology	2263	FGFR2	OMIM:207410
HP:0012880	Abnormal labia minora morphology	5447	POR	OMIM:207410
HP:0012880	Abnormal labia minora morphology	23414	ZFPM2	OMIM:616067
HP:0012880	Abnormal labia minora morphology	4920	ROR2	OMIM:268310
HP:0012880	Abnormal labia minora morphology	6638	SNRPN	ORPHA:177904
HP:0012880	Abnormal labia minora morphology	6638	SNRPN	ORPHA:177901
HP:0012880	Abnormal labia minora morphology	6638	SNRPN	ORPHA:98754
HP:0012880	Abnormal labia minora morphology	4692	NDN	ORPHA:177904
HP:0012880	Abnormal labia minora morphology	4692	NDN	ORPHA:177901
HP:0012880	Abnormal labia minora morphology	4692	NDN	ORPHA:98754
HP:0012880	Abnormal labia minora morphology	54551	MAGEL2	ORPHA:177904
HP:0012880	Abnormal labia minora morphology	54551	MAGEL2	ORPHA:177901
HP:0012880	Abnormal labia minora morphology	54551	MAGEL2	ORPHA:398069
HP:0012880	Abnormal labia minora morphology	54551	MAGEL2	OMIM:176270
HP:0012880	Abnormal labia minora morphology	54551	MAGEL2	ORPHA:98754
HP:0012880	Abnormal labia minora morphology	4948	OCA2	ORPHA:177904
HP:0012880	Abnormal labia minora morphology	4948	OCA2	ORPHA:177901
HP:0012880	Abnormal labia minora morphology	4948	OCA2	ORPHA:98754
HP:0012880	Abnormal labia minora morphology	2571	GAD1	OMIM:619124
HP:0012880	Abnormal labia minora morphology	4081	MAB21L1	ORPHA:495875
HP:0012880	Abnormal labia minora morphology	4998	ORC1	OMIM:224690
HP:0012880	Abnormal labia minora morphology	4998	ORC1	ORPHA:2554
HP:0012880	Abnormal labia minora morphology	1857	DVL3	ORPHA:3107
HP:0012880	Abnormal labia minora morphology	7474	WNT5A	ORPHA:3107
HP:0012880	Abnormal labia minora morphology	1855	DVL1	ORPHA:3107
HP:0012880	Abnormal labia minora morphology	2535	FZD2	ORPHA:3107
HP:0012880	Abnormal labia minora morphology	22931	RAB18	OMIM:614222
HP:0012880	Abnormal labia minora morphology	22931	RAB18	ORPHA:2510
HP:0012880	Abnormal labia minora morphology	117581	TWIST2	OMIM:209885
HP:0012880	Abnormal labia minora morphology	6492	SIM1	ORPHA:398079
HP:0012880	Abnormal labia minora morphology	60	ACTB	ORPHA:64755
HP:0012880	Abnormal labia minora morphology	26040	SETBP1	OMIM:269150
HP:0012880	Abnormal labia minora morphology	23594	ORC6	OMIM:613803
HP:0012880	Abnormal labia minora morphology	23594	ORC6	ORPHA:2554
HP:0012880	Abnormal labia minora morphology	81620	CDT1	ORPHA:2554
HP:0012880	Abnormal labia minora morphology	5000	ORC4	ORPHA:2554
HP:0012880	Abnormal labia minora morphology	8318	CDC45	ORPHA:2554
HP:0012880	Abnormal labia minora morphology	990	CDC6	ORPHA:2554
HP:0012880	Abnormal labia minora morphology	51053	GMNN	ORPHA:2554
HP:0012880	Abnormal labia minora morphology	22930	RAB3GAP1	ORPHA:2510
HP:0012880	Abnormal labia minora morphology	25782	RAB3GAP2	ORPHA:2510
HP:0012880	Abnormal labia minora morphology	128637	TBC1D20	ORPHA:2510
HP:0012880	Abnormal labia minora morphology	100033413	SNORD116-1	OMIM:176270
HP:0012880	Abnormal labia minora morphology	8924	HERC2	OMIM:176270
HP:0012880	Abnormal labia minora morphology	23742	NPAP1	OMIM:176270
HP:0012880	Abnormal labia minora morphology	338433	SNORD115-1	OMIM:176270
HP:0012880	Abnormal labia minora morphology	7681	MKRN3	OMIM:176270
HP:0012880	Abnormal labia minora morphology	145624	PWAR1	OMIM:176270
HP:0012880	Abnormal labia minora morphology	3653	IPW	OMIM:176270
HP:0012880	Abnormal labia minora morphology	791114	PWRN1	OMIM:176270
HP:0012880	Abnormal labia minora morphology	23522	KAT6B	OMIM:606170
HP:0012880	Abnormal labia minora morphology	157570	ESCO2	OMIM:268300
HP:0025160	Abnormal temper tantrums	6638	SNRPN	ORPHA:177904
HP:0025160	Abnormal temper tantrums	6638	SNRPN	ORPHA:177901
HP:0025160	Abnormal temper tantrums	6638	SNRPN	ORPHA:177907
HP:0025160	Abnormal temper tantrums	6638	SNRPN	ORPHA:98754
HP:0025160	Abnormal temper tantrums	4692	NDN	ORPHA:177904
HP:0025160	Abnormal temper tantrums	4692	NDN	ORPHA:177901
HP:0025160	Abnormal temper tantrums	4692	NDN	ORPHA:98754
HP:0025160	Abnormal temper tantrums	54551	MAGEL2	ORPHA:177904
HP:0025160	Abnormal temper tantrums	54551	MAGEL2	ORPHA:177901
HP:0025160	Abnormal temper tantrums	54551	MAGEL2	ORPHA:398069
HP:0025160	Abnormal temper tantrums	54551	MAGEL2	ORPHA:98754
HP:0025160	Abnormal temper tantrums	4948	OCA2	ORPHA:177904
HP:0025160	Abnormal temper tantrums	4948	OCA2	ORPHA:177901
HP:0025160	Abnormal temper tantrums	4948	OCA2	ORPHA:98754
HP:0025160	Abnormal temper tantrums	23394	ADNP	ORPHA:404448
HP:0025160	Abnormal temper tantrums	7874	USP7	ORPHA:500055
HP:0025160	Abnormal temper tantrums	10664	CTCF	ORPHA:363611
HP:0025160	Abnormal temper tantrums	2629	GBA1	ORPHA:2072
HP:0025160	Abnormal temper tantrums	2332	FMR1	ORPHA:449291
HP:0025160	Abnormal temper tantrums	347733	TUBB2B	ORPHA:300573
HP:0025160	Abnormal temper tantrums	5528	PPP2R5D	ORPHA:457279
HP:0025160	Abnormal temper tantrums	26047	CNTNAP2	ORPHA:163681
HP:0025160	Abnormal temper tantrums	93986	FOXP2	ORPHA:251061
HP:0025160	Abnormal temper tantrums	23040	MYT1L	ORPHA:647799
HP:0025160	Abnormal temper tantrums	6492	SIM1	ORPHA:171829
HP:0025160	Abnormal temper tantrums	6492	SIM1	ORPHA:398079
HP:0025160	Abnormal temper tantrums	55690	PACS1	ORPHA:329224
HP:0025160	Abnormal temper tantrums	2314	FLII	ORPHA:819
HP:0025160	Abnormal temper tantrums	23096	IQSEC2	ORPHA:819
HP:0025160	Abnormal temper tantrums	10743	RAI1	ORPHA:819
HP:0025160	Abnormal temper tantrums	10522	DEAF1	ORPHA:819
HP:0025160	Abnormal temper tantrums	10847	SRCAP	ORPHA:2044
HP:0025160	Abnormal temper tantrums	1499	CTNNB1	ORPHA:404473
HP:0025160	Abnormal temper tantrums	11011	TLK2	OMIM:618050
HP:0025160	Abnormal temper tantrums	8481	OFD1	OMIM:300804
HP:0025160	Abnormal temper tantrums	23314	SATB2	OMIM:612313
HP:0025160	Abnormal temper tantrums	1457	CSNK2A1	OMIM:617062
HP:0025160	Abnormal temper tantrums	57551	TAOK1	OMIM:619575
HP:0025160	Abnormal temper tantrums	10524	KAT5	OMIM:619103
HP:0025160	Abnormal temper tantrums	84320	ACBD6	OMIM:620785
HP:0025160	Abnormal temper tantrums	1182	CLCN3	OMIM:619512
HP:0025160	Abnormal temper tantrums	26040	SETBP1	OMIM:616078
HP:0025160	Abnormal temper tantrums	10093	ARPC4	OMIM:620141
HP:0025160	Abnormal temper tantrums	10352	WARS2	OMIM:617710
HP:0025160	Abnormal temper tantrums	51204	TACO1	OMIM:619052
HP:0025160	Abnormal temper tantrums	2770	GNAI1	OMIM:619854
HP:0025160	Abnormal temper tantrums	51319	RSRC1	OMIM:618402
HP:0025160	Abnormal temper tantrums	6334	SCN8A	OMIM:614306
HP:0025160	Abnormal temper tantrums	5977	DPF2	OMIM:618027
HP:0025161	Frequent temper tantrums	11011	TLK2	OMIM:618050
HP:0025161	Frequent temper tantrums	8481	OFD1	OMIM:300804
HP:0025161	Frequent temper tantrums	23314	SATB2	OMIM:612313
HP:0025161	Frequent temper tantrums	1457	CSNK2A1	OMIM:617062
HP:0025161	Frequent temper tantrums	57551	TAOK1	OMIM:619575
HP:0025161	Frequent temper tantrums	10524	KAT5	OMIM:619103
HP:0025161	Frequent temper tantrums	84320	ACBD6	OMIM:620785
HP:0025161	Frequent temper tantrums	1182	CLCN3	OMIM:619512
HP:0025161	Frequent temper tantrums	26040	SETBP1	OMIM:616078
HP:0025161	Frequent temper tantrums	10093	ARPC4	OMIM:620141
HP:0025162	Severe temper tantrums	10352	WARS2	OMIM:617710
HP:0025162	Severe temper tantrums	51204	TACO1	OMIM:619052
HP:0025162	Severe temper tantrums	2770	GNAI1	OMIM:619854
HP:0025162	Severe temper tantrums	51319	RSRC1	OMIM:618402
HP:0025162	Severe temper tantrums	6334	SCN8A	OMIM:614306
HP:0025162	Severe temper tantrums	5977	DPF2	OMIM:618027
HP:0025163	Abnormal optic chiasm morphology	1859	DYRK1A	ORPHA:268261
HP:0025163	Abnormal optic chiasm morphology	3954	LETM1	OMIM:620089
HP:0025163	Abnormal optic chiasm morphology	7345	UCHL1	OMIM:615491
HP:0025163	Abnormal optic chiasm morphology	220	ALDH1A3	OMIM:615113
HP:0025163	Abnormal optic chiasm morphology	1729	DIAPH1	ORPHA:477814
HP:0025163	Abnormal optic chiasm morphology	51112	TRAPPC12	OMIM:617669
HP:0025163	Abnormal optic chiasm morphology	4976	OPA1	OMIM:210000
HP:0025167	Fragmented elastic fibers in the dermis	23545	ATP6V0A2	ORPHA:2834
HP:0025167	Fragmented elastic fibers in the dermis	23545	ATP6V0A2	ORPHA:357074
HP:0025167	Fragmented elastic fibers in the dermis	340665	CYP26C1	ORPHA:398189
HP:0025167	Fragmented elastic fibers in the dermis	2006	ELN	ORPHA:90348
HP:0025167	Fragmented elastic fibers in the dermis	10516	FBLN5	ORPHA:90348
HP:0025167	Fragmented elastic fibers in the dermis	10516	FBLN5	ORPHA:90349
HP:0025167	Fragmented elastic fibers in the dermis	5832	ALDH18A1	ORPHA:90348
HP:0025167	Fragmented elastic fibers in the dermis	4052	LTBP1	ORPHA:90349
HP:0025167	Fragmented elastic fibers in the dermis	30008	EFEMP2	ORPHA:90349
HP:0025167	Fragmented elastic fibers in the dermis	523	ATP6V1A	ORPHA:357074
HP:0025167	Fragmented elastic fibers in the dermis	529	ATP6V1E1	ORPHA:357074
HP:0025168	Left ventricular diastolic dysfunction	4000	LMNA	ORPHA:740
HP:0025168	Left ventricular diastolic dysfunction	10269	ZMPSTE24	ORPHA:740
HP:0025168	Left ventricular diastolic dysfunction	57538	ALPK3	OMIM:618052
HP:0025168	Left ventricular diastolic dysfunction	2318	FLNC	ORPHA:171445
HP:0025168	Left ventricular diastolic dysfunction	171019	ADAMTS19	OMIM:620067
HP:0025168	Left ventricular diastolic dysfunction	3156	HMGCR	OMIM:620375
HP:0025168	Left ventricular diastolic dysfunction	63976	PRDM16	OMIM:615373
HP:0025169	Left ventricular systolic dysfunction	3759	KCNJ2	OMIM:609622
HP:0025169	Left ventricular systolic dysfunction	7156	TOP3A	OMIM:618098
HP:0025169	Left ventricular systolic dysfunction	291	SLC25A4	ORPHA:254892
HP:0025169	Left ventricular systolic dysfunction	5428	POLG	ORPHA:254892
HP:0025169	Left ventricular systolic dysfunction	56652	TWNK	ORPHA:254892
HP:0025169	Left ventricular systolic dysfunction	11232	POLG2	ORPHA:254892
HP:0025169	Left ventricular systolic dysfunction	50484	RRM2B	ORPHA:254892
HP:0025169	Left ventricular systolic dysfunction	37	ACADVL	OMIM:201475
HP:0025169	Left ventricular systolic dysfunction	4878	NPPA	OMIM:612201
HP:0025169	Left ventricular systolic dysfunction	4878	NPPA	ORPHA:1344
HP:0025169	Left ventricular systolic dysfunction	8291	DYSF	ORPHA:268
HP:0025169	Left ventricular systolic dysfunction	80206	FHOD3	OMIM:619402
HP:0025169	Left ventricular systolic dysfunction	7276	TTR	ORPHA:85451
HP:0025169	Left ventricular systolic dysfunction	3908	LAMA2	ORPHA:258
HP:0025169	Left ventricular systolic dysfunction	58528	RRAGD	OMIM:620152
HP:0025169	Left ventricular systolic dysfunction	388753	COA6	OMIM:616501
HP:0025169	Left ventricular systolic dysfunction	2702	GJA5	OMIM:614049
HP:0025169	Left ventricular systolic dysfunction	4634	MYL3	OMIM:608751
HP:0025169	Left ventricular systolic dysfunction	51778	MYOZ2	OMIM:613838
HP:0025169	Left ventricular systolic dysfunction	57505	AARS2	OMIM:614096
HP:0025169	Left ventricular systolic dysfunction	3762	KCNJ5	OMIM:613485
HP:0025169	Left ventricular systolic dysfunction	10699	CORIN	OMIM:620734
HP:0025169	Left ventricular systolic dysfunction	567	B2M	ORPHA:314652
HP:0025169	Left ventricular systolic dysfunction	3920	LAMP2	OMIM:300257
HP:0025169	Left ventricular systolic dysfunction	64121	RRAGC	OMIM:620609
HP:0025169	Left ventricular systolic dysfunction	51117	COQ4	OMIM:616276
HP:0025169	Left ventricular systolic dysfunction	2314	FLII	OMIM:620635
HP:0025169	Left ventricular systolic dysfunction	54148	MRPL39	OMIM:620646
HP:0025169	Left ventricular systolic dysfunction	79158	GNPTAB	OMIM:252600
HP:0025169	Left ventricular systolic dysfunction	84705	GTPBP3	ORPHA:444013
HP:0025169	Left ventricular systolic dysfunction	6445	SGCG	ORPHA:353
HP:0025169	Left ventricular systolic dysfunction	4000	LMNA	ORPHA:740
HP:0025169	Left ventricular systolic dysfunction	4000	LMNA	ORPHA:154
HP:0025169	Left ventricular systolic dysfunction	10269	ZMPSTE24	ORPHA:740
HP:0025169	Left ventricular systolic dysfunction	6389	SDHA	ORPHA:154
HP:0025169	Left ventricular systolic dysfunction	10486	CAP2	ORPHA:154
HP:0025169	Left ventricular systolic dysfunction	7716	VEZF1	ORPHA:154
HP:0025169	Left ventricular systolic dysfunction	10060	ABCC9	ORPHA:154
HP:0025169	Left ventricular systolic dysfunction	10060	ABCC9	OMIM:619719
HP:0025169	Left ventricular systolic dysfunction	7168	TPM1	ORPHA:154
HP:0025169	Left ventricular systolic dysfunction	27063	ANKRD1	ORPHA:154
HP:0025169	Left ventricular systolic dysfunction	1410	CRYAB	ORPHA:154
HP:0025169	Left ventricular systolic dysfunction	439	GET3	ORPHA:154
HP:0025169	Left ventricular systolic dysfunction	7273	TTN	ORPHA:154
HP:0025169	Left ventricular systolic dysfunction	5350	PLN	ORPHA:154
HP:0025169	Left ventricular systolic dysfunction	5664	PSEN2	ORPHA:154
HP:0025169	Left ventricular systolic dysfunction	9529	BAG5	ORPHA:154
HP:0025169	Left ventricular systolic dysfunction	4607	MYBPC3	ORPHA:154
HP:0025169	Left ventricular systolic dysfunction	11155	LDB3	ORPHA:154
HP:0025169	Left ventricular systolic dysfunction	2274	FHL2	ORPHA:154
HP:0025169	Left ventricular systolic dysfunction	1756	DMD	ORPHA:154
HP:0025169	Left ventricular systolic dysfunction	84665	MYPN	ORPHA:154
HP:0025169	Left ventricular systolic dysfunction	1674	DES	ORPHA:154
HP:0025169	Left ventricular systolic dysfunction	442721	LMOD2	ORPHA:154
HP:0025169	Left ventricular systolic dysfunction	8557	TCAP	ORPHA:154
HP:0025169	Left ventricular systolic dysfunction	57158	JPH2	ORPHA:154
HP:0025169	Left ventricular systolic dysfunction	9015	TAF1A	ORPHA:154
HP:0025169	Left ventricular systolic dysfunction	5663	PSEN1	ORPHA:154
HP:0025169	Left ventricular systolic dysfunction	7112	TMPO	ORPHA:154
HP:0025169	Left ventricular systolic dysfunction	9464	HAND2	ORPHA:154
HP:0025169	Left ventricular systolic dysfunction	4625	MYH7	ORPHA:154
HP:0025169	Left ventricular systolic dysfunction	88	ACTN2	ORPHA:154
HP:0025169	Left ventricular systolic dysfunction	7414	VCL	ORPHA:154
HP:0025169	Left ventricular systolic dysfunction	1832	DSP	ORPHA:154
HP:0025169	Left ventricular systolic dysfunction	70	ACTC1	ORPHA:154
HP:0025169	Left ventricular systolic dysfunction	6123	RPL3L	ORPHA:154
HP:0025169	Left ventricular systolic dysfunction	8048	CSRP3	ORPHA:154
HP:0025169	Left ventricular systolic dysfunction	7139	TNNT2	ORPHA:154
HP:0025169	Left ventricular systolic dysfunction	1829	DSG2	ORPHA:154
HP:0025169	Left ventricular systolic dysfunction	3910	LAMA4	ORPHA:154
HP:0025169	Left ventricular systolic dysfunction	63976	PRDM16	ORPHA:154
HP:0025169	Left ventricular systolic dysfunction	63976	PRDM16	OMIM:615373
HP:0025169	Left ventricular systolic dysfunction	10587	TXNRD2	ORPHA:154
HP:0025169	Left ventricular systolic dysfunction	9531	BAG3	ORPHA:154
HP:0025169	Left ventricular systolic dysfunction	91624	NEXN	ORPHA:154
HP:0025169	Left ventricular systolic dysfunction	79717	PPCS	ORPHA:154
HP:0025169	Left ventricular systolic dysfunction	4624	MYH6	ORPHA:154
HP:0025169	Left ventricular systolic dysfunction	282996	RBM20	ORPHA:154
HP:0025169	Left ventricular systolic dysfunction	282996	RBM20	OMIM:613172
HP:0025169	Left ventricular systolic dysfunction	7137	TNNI3	ORPHA:154
HP:0025169	Left ventricular systolic dysfunction	6901	TAFAZZIN	ORPHA:154
HP:0025169	Left ventricular systolic dysfunction	22845	DOLK	ORPHA:154
HP:0025169	Left ventricular systolic dysfunction	5894	RAF1	ORPHA:154
HP:0025169	Left ventricular systolic dysfunction	57798	GATAD1	ORPHA:154
HP:0025169	Left ventricular systolic dysfunction	7134	TNNC1	ORPHA:154
HP:0025169	Left ventricular systolic dysfunction	6444	SGCD	ORPHA:154
HP:0025169	Left ventricular systolic dysfunction	6331	SCN5A	ORPHA:154
HP:0025169	Left ventricular systolic dysfunction	2218	FKTN	ORPHA:154
HP:0025169	Left ventricular systolic dysfunction	5167	ENPP1	ORPHA:51608
HP:0025169	Left ventricular systolic dysfunction	368	ABCC6	ORPHA:51608
HP:0025169	Left ventricular systolic dysfunction	10848	PPP1R13L	OMIM:620519
HP:0025169	Left ventricular systolic dysfunction	6392	SDHD	OMIM:619167
HP:0025169	Left ventricular systolic dysfunction	29954	POMT2	OMIM:613156
HP:0025169	Left ventricular systolic dysfunction	29954	POMT2	ORPHA:206559
HP:0025169	Left ventricular systolic dysfunction	6533	SLC6A6	OMIM:145350
HP:0025169	Left ventricular systolic dysfunction	54800	KLHL24	OMIM:620236
HP:0012888	Abnormal uterine cervix morphology	367	AR	ORPHA:99429
HP:0012888	Abnormal uterine cervix morphology	1281	COL3A1	OMIM:130050
HP:0012888	Abnormal uterine cervix morphology	1277	COL1A1	ORPHA:287
HP:0012888	Abnormal uterine cervix morphology	1289	COL5A1	ORPHA:287
HP:0012888	Abnormal uterine cervix morphology	1290	COL5A2	ORPHA:287
HP:0012888	Abnormal uterine cervix morphology	6736	SRY	ORPHA:1772
HP:0012888	Abnormal uterine cervix morphology	6794	STK11	ORPHA:2869
HP:0012888	Abnormal uterine cervix morphology	7852	CXCR4	ORPHA:51636
HP:0012888	Abnormal uterine cervix morphology	2261	FGFR3	OMIM:603956
HP:0012888	Abnormal uterine cervix morphology	8379	MAD1L1	OMIM:620189
HP:0012888	Abnormal uterine cervix morphology	1027	CDKN1B	ORPHA:276152
HP:0012888	Abnormal uterine cervix morphology	5340	PLG	ORPHA:722
HP:0012888	Abnormal uterine cervix morphology	2624	GATA2	OMIM:614172
HP:0012886	Hemorrhagic ovarian cyst	5618	PRLR	ORPHA:397685
HP:0012886	Hemorrhagic ovarian cyst	2492	FSHR	ORPHA:64739
HP:0012887	Ovarian serous cystadenoma	5290	PIK3CA	ORPHA:276280
HP:0012887	Ovarian serous cystadenoma	6736	SRY	ORPHA:1772
HP:0012887	Ovarian serous cystadenoma	5573	PRKAR1A	ORPHA:1359
HP:0012887	Ovarian serous cystadenoma	50940	PDE11A	ORPHA:1359
HP:0012881	Abnormal labia majora morphology	23476	BRD4	ORPHA:199
HP:0012881	Abnormal labia majora morphology	9126	SMC3	ORPHA:199
HP:0012881	Abnormal labia majora morphology	8243	SMC1A	ORPHA:199
HP:0012881	Abnormal labia majora morphology	6878	TAF6	ORPHA:199
HP:0012881	Abnormal labia majora morphology	25836	NIPBL	ORPHA:199
HP:0012881	Abnormal labia majora morphology	25836	NIPBL	OMIM:122470
HP:0012881	Abnormal labia majora morphology	55869	HDAC8	ORPHA:199
HP:0012881	Abnormal labia majora morphology	5885	RAD21	ORPHA:199
HP:0012881	Abnormal labia majora morphology	4920	ROR2	OMIM:268310
HP:0012881	Abnormal labia majora morphology	10664	CTCF	ORPHA:363611
HP:0012881	Abnormal labia majora morphology	4998	ORC1	OMIM:224690
HP:0012881	Abnormal labia majora morphology	4998	ORC1	ORPHA:2554
HP:0012881	Abnormal labia majora morphology	2100	ESR2	OMIM:618187
HP:0012881	Abnormal labia majora morphology	145173	B3GLCT	OMIM:261540
HP:0012881	Abnormal labia majora morphology	1857	DVL3	ORPHA:3107
HP:0012881	Abnormal labia majora morphology	7474	WNT5A	ORPHA:3107
HP:0012881	Abnormal labia majora morphology	7474	WNT5A	OMIM:180700
HP:0012881	Abnormal labia majora morphology	1855	DVL1	ORPHA:3107
HP:0012881	Abnormal labia majora morphology	1855	DVL1	OMIM:180700
HP:0012881	Abnormal labia majora morphology	2535	FZD2	ORPHA:3107
HP:0012881	Abnormal labia majora morphology	25782	RAB3GAP2	OMIM:614225
HP:0012881	Abnormal labia majora morphology	3664	IRF6	ORPHA:1300
HP:0012881	Abnormal labia majora morphology	3664	IRF6	OMIM:119500
HP:0012881	Abnormal labia majora morphology	29957	SLC25A24	OMIM:612289
HP:0012881	Abnormal labia majora morphology	117581	TWIST2	OMIM:209885
HP:0012881	Abnormal labia majora morphology	117581	TWIST2	OMIM:200110
HP:0012881	Abnormal labia majora morphology	8626	TP63	OMIM:129400
HP:0012881	Abnormal labia majora morphology	81620	CDT1	ORPHA:2554
HP:0012881	Abnormal labia majora morphology	5000	ORC4	ORPHA:2554
HP:0012881	Abnormal labia majora morphology	5000	ORC4	OMIM:613800
HP:0012881	Abnormal labia majora morphology	23594	ORC6	ORPHA:2554
HP:0012881	Abnormal labia majora morphology	8318	CDC45	ORPHA:2554
HP:0012881	Abnormal labia majora morphology	990	CDC6	ORPHA:2554
HP:0012881	Abnormal labia majora morphology	51053	GMNN	ORPHA:2554
HP:0012881	Abnormal labia majora morphology	51053	GMNN	OMIM:616835
HP:0012881	Abnormal labia majora morphology	23347	SMCHD1	OMIM:603457
HP:0012881	Abnormal labia majora morphology	9896	FIG4	ORPHA:3472
HP:0012881	Abnormal labia majora morphology	55697	VAC14	ORPHA:3472
HP:0012881	Abnormal labia majora morphology	2571	GAD1	OMIM:619124
HP:0012881	Abnormal labia majora morphology	54101	RIPK4	OMIM:263650
HP:0012881	Abnormal labia majora morphology	89910	UBE3B	OMIM:244450
HP:0012881	Abnormal labia majora morphology	9427	ECEL1	OMIM:615065
HP:0012881	Abnormal labia majora morphology	55012	PPP2R3C	OMIM:618419
HP:0012881	Abnormal labia majora morphology	2263	FGFR2	OMIM:207410
HP:0012881	Abnormal labia majora morphology	2263	FGFR2	OMIM:123790
HP:0012881	Abnormal labia majora morphology	5447	POR	OMIM:207410
HP:0012881	Abnormal labia majora morphology	26040	SETBP1	OMIM:269150
HP:0012881	Abnormal labia majora morphology	1146	CHRNG	OMIM:265000
HP:0012881	Abnormal labia majora morphology	1146	CHRNG	ORPHA:2990
HP:0012881	Abnormal labia majora morphology	4621	MYH3	ORPHA:2990
HP:0012881	Abnormal labia majora morphology	4081	MAB21L1	ORPHA:495875
HP:0012881	Abnormal labia majora morphology	3991	LIPE	ORPHA:435660
HP:0012881	Abnormal labia majora morphology	3284	HSD3B2	ORPHA:90791
HP:0012881	Abnormal labia majora morphology	5373	PMM2	ORPHA:79318
HP:0012881	Abnormal labia majora morphology	367	AR	ORPHA:90797
HP:0012881	Abnormal labia majora morphology	2516	NR5A1	OMIM:617480
HP:0012882	Hyperplastic labia majora	5373	PMM2	ORPHA:79318
HP:0007542	Absent pigmentation of the ventral chest	3815	KIT	OMIM:172800
HP:0000962	Hyperkeratosis	9509	ADAMTS2	OMIM:225410
HP:0000962	Hyperkeratosis	3858	KRT10	ORPHA:312
HP:0000962	Hyperkeratosis	3858	KRT10	OMIM:620150
HP:0000962	Hyperkeratosis	3858	KRT10	OMIM:146600
HP:0000962	Hyperkeratosis	3848	KRT1	ORPHA:312
HP:0000962	Hyperkeratosis	3848	KRT1	ORPHA:79503
HP:0000962	Hyperkeratosis	3848	KRT1	ORPHA:2199
HP:0000962	Hyperkeratosis	8036	SHOC2	OMIM:607721
HP:0000962	Hyperkeratosis	8216	LZTR1	OMIM:616564
HP:0000962	Hyperkeratosis	8216	LZTR1	OMIM:605275
HP:0000962	Hyperkeratosis	25923	ATL3	OMIM:615632
HP:0000962	Hyperkeratosis	25923	ATL3	ORPHA:36386
HP:0000962	Hyperkeratosis	100151683	RNU4ATAC	OMIM:210710
HP:0000962	Hyperkeratosis	6016	RIT1	OMIM:615355
HP:0000962	Hyperkeratosis	29926	GMPPA	OMIM:615510
HP:0000962	Hyperkeratosis	673	BRAF	OMIM:115150
HP:0000962	Hyperkeratosis	673	BRAF	ORPHA:1340
HP:0000962	Hyperkeratosis	673	BRAF	OMIM:613707
HP:0000962	Hyperkeratosis	4254	KITLG	OMIM:145250
HP:0000962	Hyperkeratosis	3643	INSR	ORPHA:2297
HP:0000962	Hyperkeratosis	3643	INSR	OMIM:246200
HP:0000962	Hyperkeratosis	3643	INSR	ORPHA:508
HP:0000962	Hyperkeratosis	9526	MPDU1	OMIM:609180
HP:0000962	Hyperkeratosis	64682	ANAPC1	OMIM:618625
HP:0000962	Hyperkeratosis	79755	ZNF750	OMIM:610227
HP:0000962	Hyperkeratosis	56983	POGLUT1	ORPHA:79145
HP:0000962	Hyperkeratosis	3852	KRT5	ORPHA:79145
HP:0000962	Hyperkeratosis	3852	KRT5	ORPHA:79399
HP:0000962	Hyperkeratosis	23509	POFUT1	ORPHA:79145
HP:0000962	Hyperkeratosis	55851	PSENEN	ORPHA:79145
HP:0000962	Hyperkeratosis	8626	TP63	OMIM:604292
HP:0000962	Hyperkeratosis	8626	TP63	ORPHA:1896
HP:0000962	Hyperkeratosis	2629	GBA1	OMIM:608013
HP:0000962	Hyperkeratosis	79650	USB1	OMIM:604173
HP:0000962	Hyperkeratosis	2706	GJB2	OMIM:602540
HP:0000962	Hyperkeratosis	2706	GJB2	ORPHA:2202
HP:0000962	Hyperkeratosis	2706	GJB2	ORPHA:494
HP:0000962	Hyperkeratosis	2706	GJB2	OMIM:148210
HP:0000962	Hyperkeratosis	3106	HLA-B	ORPHA:29207
HP:0000962	Hyperkeratosis	3728	JUP	OMIM:601214
HP:0000962	Hyperkeratosis	831	CAST	OMIM:616295
HP:0000962	Hyperkeratosis	23586	RIGI	OMIM:616298
HP:0000962	Hyperkeratosis	1294	COL7A1	ORPHA:89843
HP:0000962	Hyperkeratosis	1294	COL7A1	OMIM:131850
HP:0000962	Hyperkeratosis	5167	ENPP1	OMIM:615522
HP:0000962	Hyperkeratosis	51360	MBTPS2	OMIM:300918
HP:0000962	Hyperkeratosis	51360	MBTPS2	ORPHA:2273
HP:0000962	Hyperkeratosis	51360	MBTPS2	OMIM:308205
HP:0000962	Hyperkeratosis	63916	ELMO2	ORPHA:3019
HP:0000962	Hyperkeratosis	4574	MT-TS1	ORPHA:2202
HP:0000962	Hyperkeratosis	79644	SRD5A3	OMIM:612379
HP:0000962	Hyperkeratosis	224	ALDH3A2	ORPHA:816
HP:0000962	Hyperkeratosis	3861	KRT14	OMIM:131800
HP:0000962	Hyperkeratosis	3861	KRT14	ORPHA:89838
HP:0000962	Hyperkeratosis	3861	KRT14	ORPHA:79399
HP:0000962	Hyperkeratosis	64065	PERP	OMIM:619208
HP:0000962	Hyperkeratosis	4758	NEU1	ORPHA:812
HP:0000962	Hyperkeratosis	55780	ERMARD	ORPHA:75857
HP:0000962	Hyperkeratosis	27032	ATP2C1	ORPHA:2841
HP:0000962	Hyperkeratosis	284058	KANSL1	ORPHA:363958
HP:0000962	Hyperkeratosis	284058	KANSL1	ORPHA:363965
HP:0000962	Hyperkeratosis	50814	NSDHL	OMIM:308050
HP:0000962	Hyperkeratosis	64834	ELOVL1	OMIM:618527
HP:0000962	Hyperkeratosis	102	ADAM10	OMIM:615537
HP:0000962	Hyperkeratosis	412	STS	ORPHA:281090
HP:0000962	Hyperkeratosis	412	STS	ORPHA:461
HP:0000962	Hyperkeratosis	5604	MAP2K1	ORPHA:1340
HP:0000962	Hyperkeratosis	5604	MAP2K1	OMIM:615279
HP:0000962	Hyperkeratosis	5605	MAP2K2	ORPHA:1340
HP:0000962	Hyperkeratosis	3845	KRAS	ORPHA:1340
HP:0000962	Hyperkeratosis	22845	DOLK	OMIM:610768
HP:0000962	Hyperkeratosis	2717	GLA	ORPHA:324
HP:0000962	Hyperkeratosis	6768	ST14	OMIM:602400
HP:0000962	Hyperkeratosis	6898	TAT	ORPHA:28378
HP:0000962	Hyperkeratosis	3265	HRAS	ORPHA:3071
HP:0000962	Hyperkeratosis	1475	CSTA	OMIM:607936
HP:0000962	Hyperkeratosis	2068	ERCC2	OMIM:601675
HP:0000962	Hyperkeratosis	2068	ERCC2	ORPHA:910
HP:0000962	Hyperkeratosis	204219	CERS3	OMIM:615023
HP:0000962	Hyperkeratosis	285848	PNPLA1	OMIM:615024
HP:0000962	Hyperkeratosis	57511	COG6	OMIM:614576
HP:0000962	Hyperkeratosis	23086	EXPH5	OMIM:615028
HP:0000962	Hyperkeratosis	84818	IL17RC	ORPHA:1334
HP:0000962	Hyperkeratosis	64581	CLEC7A	ORPHA:1334
HP:0000962	Hyperkeratosis	23765	IL17RA	ORPHA:1334
HP:0000962	Hyperkeratosis	10758	TRAF3IP2	ORPHA:1334
HP:0000962	Hyperkeratosis	112744	IL17F	ORPHA:1334
HP:0000962	Hyperkeratosis	151516	ASPRV1	OMIM:146750
HP:0000962	Hyperkeratosis	151516	ASPRV1	ORPHA:313
HP:0000962	Hyperkeratosis	1001	CDH3	ORPHA:1573
HP:0000962	Hyperkeratosis	1832	DSP	OMIM:615821
HP:0000962	Hyperkeratosis	6785	ELOVL4	OMIM:614457
HP:0000962	Hyperkeratosis	6785	ELOVL4	OMIM:133190
HP:0000962	Hyperkeratosis	2697	GJA1	ORPHA:317
HP:0000962	Hyperkeratosis	2697	GJA1	OMIM:104100
HP:0000962	Hyperkeratosis	2697	GJA1	OMIM:617525
HP:0000962	Hyperkeratosis	2707	GJB3	ORPHA:317
HP:0000962	Hyperkeratosis	2531	KDSR	ORPHA:317
HP:0000962	Hyperkeratosis	2531	KDSR	OMIM:617526
HP:0000962	Hyperkeratosis	127534	GJB4	ORPHA:317
HP:0000962	Hyperkeratosis	9487	PIGL	ORPHA:3474
HP:0000962	Hyperkeratosis	4000	LMNA	ORPHA:79474
HP:0000962	Hyperkeratosis	4000	LMNA	ORPHA:1662
HP:0000962	Hyperkeratosis	242	ALOX12B	ORPHA:313
HP:0000962	Hyperkeratosis	242	ALOX12B	OMIM:242100
HP:0000962	Hyperkeratosis	126410	CYP4F22	ORPHA:313
HP:0000962	Hyperkeratosis	6820	SULT2B1	ORPHA:313
HP:0000962	Hyperkeratosis	6820	SULT2B1	OMIM:617571
HP:0000962	Hyperkeratosis	26154	ABCA12	ORPHA:313
HP:0000962	Hyperkeratosis	26154	ABCA12	ORPHA:457
HP:0000962	Hyperkeratosis	643418	LIPN	ORPHA:313
HP:0000962	Hyperkeratosis	643418	LIPN	OMIM:613943
HP:0000962	Hyperkeratosis	59344	ALOXE3	ORPHA:313
HP:0000962	Hyperkeratosis	59344	ALOXE3	OMIM:242100
HP:0000962	Hyperkeratosis	59344	ALOXE3	OMIM:606545
HP:0000962	Hyperkeratosis	348938	NIPAL4	ORPHA:313
HP:0000962	Hyperkeratosis	348938	NIPAL4	OMIM:612281
HP:0000962	Hyperkeratosis	121214	SDR9C7	ORPHA:313
HP:0000962	Hyperkeratosis	121214	SDR9C7	OMIM:617574
HP:0000962	Hyperkeratosis	7051	TGM1	ORPHA:313
HP:0000962	Hyperkeratosis	10558	SPTLC1	ORPHA:36386
HP:0000962	Hyperkeratosis	9517	SPTLC2	ORPHA:36386
HP:0000962	Hyperkeratosis	51062	ATL1	ORPHA:36386
HP:0000962	Hyperkeratosis	54345	SOX18	OMIM:137940
HP:0000962	Hyperkeratosis	80326	WNT10A	OMIM:224750
HP:0000962	Hyperkeratosis	134218	DNAJC21	OMIM:617052
HP:0000962	Hyperkeratosis	1041	CDSN	ORPHA:90368
HP:0000962	Hyperkeratosis	121391	KRT74	ORPHA:90368
HP:0000962	Hyperkeratosis	11012	KLK11	OMIM:620507
HP:0000962	Hyperkeratosis	10013	HDAC6	ORPHA:163966
HP:0000962	Hyperkeratosis	7486	WRN	ORPHA:902
HP:0000962	Hyperkeratosis	8379	MAD1L1	OMIM:620189
HP:0000962	Hyperkeratosis	5184	PEPD	ORPHA:742
HP:0000962	Hyperkeratosis	8517	IKBKG	ORPHA:464
HP:0000962	Hyperkeratosis	8517	IKBKG	OMIM:308300
HP:0000962	Hyperkeratosis	2312	FLG	ORPHA:461
HP:0000962	Hyperkeratosis	5159	PDGFRB	OMIM:601812
HP:0000962	Hyperkeratosis	207	AKT1	OMIM:176920
HP:0000962	Hyperkeratosis	488	ATP2A2	OMIM:101900
HP:0000962	Hyperkeratosis	488	ATP2A2	ORPHA:79151
HP:0000962	Hyperkeratosis	3557	IL1RN	OMIM:612852
HP:0000962	Hyperkeratosis	10654	PMVK	ORPHA:735
HP:0000962	Hyperkeratosis	4598	MVK	ORPHA:735
HP:0000962	Hyperkeratosis	2324	FLT4	ORPHA:79452
HP:0000962	Hyperkeratosis	9780	PIEZO1	ORPHA:79452
HP:0000962	Hyperkeratosis	285	ANGPT2	ORPHA:79452
HP:0000962	Hyperkeratosis	57165	GJC2	ORPHA:79452
HP:0000962	Hyperkeratosis	1303	COL12A1	ORPHA:610
HP:0000962	Hyperkeratosis	1291	COL6A1	ORPHA:610
HP:0000962	Hyperkeratosis	1292	COL6A2	ORPHA:610
HP:0000962	Hyperkeratosis	1293	COL6A3	ORPHA:610
HP:0000962	Hyperkeratosis	1893	ECM1	ORPHA:530
HP:0000962	Hyperkeratosis	1893	ECM1	OMIM:247100
HP:0000962	Hyperkeratosis	4014	LORICRIN	OMIM:604117
HP:0000962	Hyperkeratosis	4014	LORICRIN	ORPHA:79395
HP:0000962	Hyperkeratosis	57609	DIP2B	OMIM:136630
HP:0000962	Hyperkeratosis	5422	POLA1	OMIM:301220
HP:0000962	Hyperkeratosis	1736	DKC1	OMIM:301108
HP:0000962	Hyperkeratosis	55612	FERMT1	ORPHA:2908
HP:0000962	Hyperkeratosis	3889	KRT83	OMIM:617756
HP:0000962	Hyperkeratosis	79977	GRHL2	OMIM:616029
HP:0000962	Hyperkeratosis	4668	NAGA	ORPHA:79280
HP:0000962	Hyperkeratosis	4668	NAGA	OMIM:609242
HP:0000962	Hyperkeratosis	4668	NAGA	ORPHA:79279
HP:0000962	Hyperkeratosis	10269	ZMPSTE24	ORPHA:1662
HP:0000962	Hyperkeratosis	10269	ZMPSTE24	OMIM:275210
HP:0000962	Hyperkeratosis	5271	SERPINB8	OMIM:617115
HP:0000962	Hyperkeratosis	3868	KRT16	ORPHA:2199
HP:0000962	Hyperkeratosis	3857	KRT9	ORPHA:2199
HP:0000962	Hyperkeratosis	5498	PPOX	OMIM:620483
HP:0000962	Hyperkeratosis	79092	CARD14	OMIM:602723
HP:0000962	Hyperkeratosis	162	AP1B1	ORPHA:171851
HP:0000962	Hyperkeratosis	1174	AP1S1	ORPHA:171851
HP:0000962	Hyperkeratosis	7227	TRPS1	OMIM:190351
HP:0000962	Hyperkeratosis	2744	GLS	OMIM:618339
HP:0000962	Hyperkeratosis	29969	MDFIC	OMIM:620014
HP:0000962	Hyperkeratosis	1493	CTLA4	ORPHA:2584
HP:0000962	Hyperkeratosis	940	CD28	ORPHA:2584
HP:0000962	Hyperkeratosis	7133	TNFRSF1B	ORPHA:2584
HP:0000962	Hyperkeratosis	7299	TYR	ORPHA:79431
HP:0000962	Hyperkeratosis	7507	XPA	ORPHA:910
HP:0000962	Hyperkeratosis	2071	ERCC3	ORPHA:910
HP:0000962	Hyperkeratosis	7508	XPC	ORPHA:910
HP:0000962	Hyperkeratosis	1643	DDB2	ORPHA:910
HP:0000962	Hyperkeratosis	2072	ERCC4	ORPHA:910
HP:0000962	Hyperkeratosis	2073	ERCC5	ORPHA:910
HP:0000962	Hyperkeratosis	7424	VEGFC	OMIM:615907
HP:0000962	Hyperkeratosis	55505	NOP10	OMIM:224230
HP:0000962	Hyperkeratosis	55651	NHP2	OMIM:224230
HP:0000962	Hyperkeratosis	1075	CTSC	OMIM:170650
HP:0000962	Hyperkeratosis	1075	CTSC	OMIM:245000
HP:0000962	Hyperkeratosis	1075	CTSC	ORPHA:678
HP:0000962	Hyperkeratosis	3248	HPGD	OMIM:259100
HP:0000962	Hyperkeratosis	3891	KRT85	OMIM:602032
HP:0000962	Hyperkeratosis	10651	MTX2	OMIM:619127
HP:0000962	Hyperkeratosis	5818	NECTIN1	ORPHA:3253
HP:0000962	Hyperkeratosis	5818	NECTIN1	OMIM:225060
HP:0000962	Hyperkeratosis	7015	TERT	OMIM:613989
HP:0000962	Hyperkeratosis	9896	FIG4	OMIM:216340
HP:0000962	Hyperkeratosis	667	DST	OMIM:615425
HP:0000962	Hyperkeratosis	4047	LSS	ORPHA:1366
HP:0000962	Hyperkeratosis	1308	COL17A1	ORPHA:79406
HP:0000962	Hyperkeratosis	1308	COL17A1	ORPHA:79402
HP:0000962	Hyperkeratosis	4312	MMP1	ORPHA:79408
HP:0000962	Hyperkeratosis	1824	DSC2	OMIM:610476
HP:0000962	Hyperkeratosis	3849	KRT2	ORPHA:455
HP:0000962	Hyperkeratosis	6578	SLCO2A1	ORPHA:2796
HP:0000962	Hyperkeratosis	3909	LAMA3	ORPHA:79402
HP:0000962	Hyperkeratosis	3918	LAMC2	ORPHA:79402
HP:0000962	Hyperkeratosis	3691	ITGB4	ORPHA:79402
HP:0000962	Hyperkeratosis	23328	SASH1	OMIM:618373
HP:0000962	Hyperkeratosis	1474	CST6	OMIM:618535
HP:0000962	Hyperkeratosis	54795	TRPM4	ORPHA:316
HP:0000962	Hyperkeratosis	25959	KANK2	OMIM:616099
HP:0000962	Hyperkeratosis	2263	FGFR2	ORPHA:1555
HP:0000962	Hyperkeratosis	57192	MCOLN1	ORPHA:578
HP:0000962	Hyperkeratosis	9342	SNAP29	OMIM:609528
HP:0000962	Hyperkeratosis	10848	PPP1R13L	OMIM:620519
HP:0000962	Hyperkeratosis	80169	CTC1	ORPHA:1775
HP:0000962	Hyperkeratosis	26277	TINF2	ORPHA:1775
HP:0000962	Hyperkeratosis	55135	WRAP53	ORPHA:1775
HP:0000962	Hyperkeratosis	51750	RTEL1	ORPHA:1775
HP:0000962	Hyperkeratosis	4869	NPM1	ORPHA:1775
HP:0000962	Hyperkeratosis	7012	TERC	ORPHA:1775
HP:0000962	Hyperkeratosis	5073	PARN	ORPHA:1775
HP:0000962	Hyperkeratosis	7298	TYMS	ORPHA:1775
HP:0000962	Hyperkeratosis	7286	TUFT1	OMIM:620415
HP:0000962	Hyperkeratosis	10483	SEC23B	ORPHA:201
HP:0000962	Hyperkeratosis	5728	PTEN	ORPHA:201
HP:0000962	Hyperkeratosis	6390	SDHB	ORPHA:201
HP:0000962	Hyperkeratosis	6392	SDHD	ORPHA:201
HP:0000962	Hyperkeratosis	6391	SDHC	ORPHA:201
HP:0000962	Hyperkeratosis	205717	USF3	ORPHA:201
HP:0000962	Hyperkeratosis	5290	PIK3CA	ORPHA:201
HP:0000962	Hyperkeratosis	100144748	KLLN	ORPHA:201
HP:0000962	Hyperkeratosis	2517	FUCA1	ORPHA:349
HP:0000962	Hyperkeratosis	57152	SLURP1	ORPHA:86923
HP:0000962	Hyperkeratosis	145264	SERPINA12	ORPHA:86923
HP:0000962	Hyperkeratosis	362	AQP5	OMIM:600231
HP:0000962	Hyperkeratosis	362	AQP5	ORPHA:2337
HP:0000962	Hyperkeratosis	54800	KLHL24	OMIM:617294
HP:0000962	Hyperkeratosis	3892	KRT86	OMIM:158000
HP:0000962	Hyperkeratosis	3887	KRT81	OMIM:158000
HP:0000962	Hyperkeratosis	3122	HLA-DRA	ORPHA:505
HP:0000962	Hyperkeratosis	51371	POMP	OMIM:601952
HP:0000962	Hyperkeratosis	3872	KRT17	ORPHA:2309
HP:0000962	Hyperkeratosis	3853	KRT6A	ORPHA:2309
HP:0000962	Hyperkeratosis	3854	KRT6B	ORPHA:2309
HP:0000962	Hyperkeratosis	1828	DSG1	OMIM:148700
HP:0000962	Hyperkeratosis	147409	DSG4	ORPHA:573
HP:0000962	Hyperkeratosis	147409	DSG4	OMIM:607903
HP:0000962	Hyperkeratosis	10804	GJB6	ORPHA:477
HP:0000962	Hyperkeratosis	5317	PKP1	ORPHA:158668
HP:0000962	Hyperkeratosis	5351	PLOD1	OMIM:225400
HP:0000962	Hyperkeratosis	55033	FKBP14	ORPHA:300179
HP:0000962	Hyperkeratosis	55033	FKBP14	OMIM:614557
HP:0000962	Hyperkeratosis	79651	RHBDF2	OMIM:148500
HP:0000962	Hyperkeratosis	6897	TARS1	OMIM:618546
HP:0000962	Hyperkeratosis	4035	LRP1	ORPHA:79100
HP:0000962	Hyperkeratosis	6720	SREBF1	OMIM:158310
HP:0000962	Hyperkeratosis	10999	SLC27A4	OMIM:608649
HP:0000962	Hyperkeratosis	9325	TRIP4	OMIM:617066
HP:0000962	Hyperkeratosis	9325	TRIP4	ORPHA:486815
HP:0000962	Hyperkeratosis	4921	DDR2	OMIM:618175
HP:0000962	Hyperkeratosis	22861	NLRP1	OMIM:617388
HP:0000962	Hyperkeratosis	22861	NLRP1	OMIM:615225
HP:0000962	Hyperkeratosis	5950	RBP4	OMIM:615147
HP:0000962	Hyperkeratosis	1825	DSC3	OMIM:613102
HP:0000962	Hyperkeratosis	26276	VPS33B	OMIM:620009
HP:0000962	Hyperkeratosis	5339	PLEC	OMIM:616487
HP:0000962	Hyperkeratosis	3914	LAMB3	OMIM:226650
HP:0000962	Hyperkeratosis	9401	RECQL4	ORPHA:221016
HP:0000962	Hyperkeratosis	286887	KRT6C	OMIM:615735
HP:0000962	Hyperkeratosis	60684	TRAPPC11	ORPHA:869
HP:0000962	Hyperkeratosis	8086	AAAS	ORPHA:869
HP:0000962	Hyperkeratosis	126695	KDF1	OMIM:617337
HP:0000962	Hyperkeratosis	162514	TRPV3	OMIM:614594
HP:0000962	Hyperkeratosis	56916	SMARCAD1	OMIM:136000
HP:0000962	Hyperkeratosis	55906	ZC4H2	OMIM:314580
HP:0000962	Hyperkeratosis	81607	NECTIN4	OMIM:613573
HP:0000962	Hyperkeratosis	1080	CFTR	ORPHA:498359
HP:0000962	Hyperkeratosis	8710	SERPINB7	OMIM:615598
HP:0000962	Hyperkeratosis	284654	RSPO1	OMIM:610644
HP:0000962	Hyperkeratosis	2050	EPHB4	ORPHA:90186
HP:0000962	Hyperkeratosis	3860	KRT13	OMIM:615785
HP:0000962	Hyperkeratosis	7373	COL14A1	ORPHA:79501
HP:0000962	Hyperkeratosis	79719	AAGAB	ORPHA:79501
HP:0007544	Piebald skin depigmentation	6591	SNAI2	ORPHA:2884
HP:0007544	Piebald skin depigmentation	3815	KIT	ORPHA:2884
HP:0007544	Piebald skin depigmentation	3815	KIT	OMIM:172800
HP:0007545	Congenital palmoplantar hyperkeratosis	26276	VPS33B	OMIM:620009
HP:0007545	Congenital palmoplantar hyperkeratosis	56916	SMARCAD1	OMIM:181600
HP:0007545	Congenital palmoplantar hyperkeratosis	1075	CTSC	OMIM:245010
HP:0007546	Linear hyperpigmentation	2260	FGFR1	OMIM:613001
HP:0007546	Linear hyperpigmentation	64840	PORCN	OMIM:305600
HP:0008064	Ichthyosis	10804	GJB6	ORPHA:477
HP:0008064	Ichthyosis	50814	NSDHL	OMIM:308050
HP:0008064	Ichthyosis	11012	KLK11	OMIM:620507
HP:0008064	Ichthyosis	3868	KRT16	OMIM:613000
HP:0008064	Ichthyosis	51099	ABHD5	ORPHA:98907
HP:0008064	Ichthyosis	51099	ABHD5	OMIM:275630
HP:0008064	Ichthyosis	2531	KDSR	OMIM:617526
HP:0008064	Ichthyosis	51163	DBR1	OMIM:620510
HP:0008064	Ichthyosis	4014	LORICRIN	ORPHA:79395
HP:0008064	Ichthyosis	3857	KRT9	OMIM:144200
HP:0008064	Ichthyosis	10682	EBP	ORPHA:401973
HP:0008064	Ichthyosis	10682	EBP	ORPHA:35173
HP:0008064	Ichthyosis	10682	EBP	OMIM:300960
HP:0008064	Ichthyosis	7051	TGM1	OMIM:242300
HP:0008064	Ichthyosis	7051	TGM1	ORPHA:281122
HP:0008064	Ichthyosis	7051	TGM1	ORPHA:100976
HP:0008064	Ichthyosis	7051	TGM1	ORPHA:313
HP:0008064	Ichthyosis	7051	TGM1	ORPHA:79394
HP:0008064	Ichthyosis	3858	KRT10	ORPHA:312
HP:0008064	Ichthyosis	3858	KRT10	OMIM:607602
HP:0008064	Ichthyosis	3858	KRT10	OMIM:609165
HP:0008064	Ichthyosis	3848	KRT1	ORPHA:312
HP:0008064	Ichthyosis	3848	KRT1	OMIM:620148
HP:0008064	Ichthyosis	3848	KRT1	ORPHA:79503
HP:0008064	Ichthyosis	8036	SHOC2	OMIM:607721
HP:0008064	Ichthyosis	673	BRAF	OMIM:115150
HP:0008064	Ichthyosis	673	BRAF	ORPHA:1340
HP:0008064	Ichthyosis	6768	ST14	ORPHA:91132
HP:0008064	Ichthyosis	22845	DOLK	ORPHA:91131
HP:0008064	Ichthyosis	22845	DOLK	OMIM:610768
HP:0008064	Ichthyosis	4047	LSS	ORPHA:2850
HP:0008064	Ichthyosis	4047	LSS	OMIM:618840
HP:0008064	Ichthyosis	197	AHSG	ORPHA:2850
HP:0008064	Ichthyosis	3694	ITGB6	ORPHA:2850
HP:0008064	Ichthyosis	2629	GBA1	OMIM:608013
HP:0008064	Ichthyosis	2629	GBA1	ORPHA:85212
HP:0008064	Ichthyosis	2629	GBA1	ORPHA:77260
HP:0008064	Ichthyosis	1120	CHKB	OMIM:602541
HP:0008064	Ichthyosis	2706	GJB2	OMIM:602540
HP:0008064	Ichthyosis	2706	GJB2	ORPHA:494
HP:0008064	Ichthyosis	2706	GJB2	OMIM:148210
HP:0008064	Ichthyosis	242	ALOX12B	ORPHA:281122
HP:0008064	Ichthyosis	242	ALOX12B	ORPHA:313
HP:0008064	Ichthyosis	242	ALOX12B	ORPHA:79394
HP:0008064	Ichthyosis	59344	ALOXE3	ORPHA:281122
HP:0008064	Ichthyosis	59344	ALOXE3	ORPHA:313
HP:0008064	Ichthyosis	59344	ALOXE3	OMIM:606545
HP:0008064	Ichthyosis	59344	ALOXE3	ORPHA:79394
HP:0008064	Ichthyosis	57104	PNPLA2	ORPHA:565612
HP:0008064	Ichthyosis	57104	PNPLA2	OMIM:610717
HP:0008064	Ichthyosis	57104	PNPLA2	ORPHA:98908
HP:0008064	Ichthyosis	162	AP1B1	OMIM:242150
HP:0008064	Ichthyosis	162	AP1B1	ORPHA:171851
HP:0008064	Ichthyosis	5191	PEX7	OMIM:266500
HP:0008064	Ichthyosis	5191	PEX7	OMIM:215100
HP:0008064	Ichthyosis	5191	PEX7	OMIM:614879
HP:0008064	Ichthyosis	5191	PEX7	ORPHA:773
HP:0008064	Ichthyosis	5264	PHYH	OMIM:266500
HP:0008064	Ichthyosis	5264	PHYH	ORPHA:773
HP:0008064	Ichthyosis	9342	SNAP29	ORPHA:66631
HP:0008064	Ichthyosis	9342	SNAP29	OMIM:609528
HP:0008064	Ichthyosis	79644	SRD5A3	OMIM:612379
HP:0008064	Ichthyosis	79644	SRD5A3	ORPHA:324737
HP:0008064	Ichthyosis	224	ALDH3A2	ORPHA:816
HP:0008064	Ichthyosis	224	ALDH3A2	OMIM:270200
HP:0008064	Ichthyosis	128486	FITM2	OMIM:618635
HP:0008064	Ichthyosis	9076	CLDN1	ORPHA:59303
HP:0008064	Ichthyosis	9076	CLDN1	OMIM:607626
HP:0008064	Ichthyosis	1287	COL4A5	OMIM:301050
HP:0008064	Ichthyosis	9837	GINS1	OMIM:617827
HP:0008064	Ichthyosis	134218	DNAJC21	ORPHA:811
HP:0008064	Ichthyosis	79631	EFL1	ORPHA:811
HP:0008064	Ichthyosis	51119	SBDS	ORPHA:811
HP:0008064	Ichthyosis	3849	KRT2	ORPHA:455
HP:0008064	Ichthyosis	114548	NLRP3	ORPHA:575
HP:0008064	Ichthyosis	51360	MBTPS2	ORPHA:2273
HP:0008064	Ichthyosis	51360	MBTPS2	ORPHA:85284
HP:0008064	Ichthyosis	284058	KANSL1	ORPHA:363958
HP:0008064	Ichthyosis	284058	KANSL1	ORPHA:363965
HP:0008064	Ichthyosis	54453	RIN2	OMIM:613075
HP:0008064	Ichthyosis	4141	MARS1	OMIM:619692
HP:0008064	Ichthyosis	10999	SLC27A4	ORPHA:88621
HP:0008064	Ichthyosis	64834	ELOVL1	OMIM:618527
HP:0008064	Ichthyosis	412	STS	ORPHA:281090
HP:0008064	Ichthyosis	412	STS	OMIM:308100
HP:0008064	Ichthyosis	412	STS	ORPHA:461
HP:0008064	Ichthyosis	5604	MAP2K1	ORPHA:1340
HP:0008064	Ichthyosis	5605	MAP2K2	ORPHA:1340
HP:0008064	Ichthyosis	3845	KRAS	ORPHA:1340
HP:0008064	Ichthyosis	3845	KRAS	OMIM:163200
HP:0008064	Ichthyosis	1475	CSTA	OMIM:607936
HP:0008064	Ichthyosis	1475	CSTA	ORPHA:263534
HP:0008064	Ichthyosis	51371	POMP	OMIM:601952
HP:0008064	Ichthyosis	51371	POMP	ORPHA:281201
HP:0008064	Ichthyosis	29968	PSAT1	ORPHA:284417
HP:0008064	Ichthyosis	29968	PSAT1	OMIM:616038
HP:0008064	Ichthyosis	26276	VPS33B	OMIM:208085
HP:0008064	Ichthyosis	26276	VPS33B	OMIM:620009
HP:0008064	Ichthyosis	5277	PIGA	OMIM:300868
HP:0008064	Ichthyosis	5277	PIGA	OMIM:301072
HP:0008064	Ichthyosis	146206	CARMIL2	OMIM:618131
HP:0008064	Ichthyosis	3560	IL2RB	OMIM:618495
HP:0008064	Ichthyosis	2783	GNB2	OMIM:619503
HP:0008064	Ichthyosis	63894	VIPAS39	OMIM:613404
HP:0008064	Ichthyosis	1832	DSP	OMIM:615821
HP:0008064	Ichthyosis	6785	ELOVL4	OMIM:614457
HP:0008064	Ichthyosis	9487	PIGL	ORPHA:3474
HP:0008064	Ichthyosis	9487	PIGL	OMIM:280000
HP:0008064	Ichthyosis	1174	AP1S1	OMIM:609313
HP:0008064	Ichthyosis	1174	AP1S1	ORPHA:171851
HP:0008064	Ichthyosis	151516	ASPRV1	ORPHA:313
HP:0008064	Ichthyosis	126410	CYP4F22	ORPHA:313
HP:0008064	Ichthyosis	6820	SULT2B1	ORPHA:313
HP:0008064	Ichthyosis	6820	SULT2B1	ORPHA:79394
HP:0008064	Ichthyosis	26154	ABCA12	ORPHA:313
HP:0008064	Ichthyosis	26154	ABCA12	ORPHA:457
HP:0008064	Ichthyosis	26154	ABCA12	ORPHA:79394
HP:0008064	Ichthyosis	643418	LIPN	ORPHA:313
HP:0008064	Ichthyosis	643418	LIPN	OMIM:613943
HP:0008064	Ichthyosis	348938	NIPAL4	ORPHA:313
HP:0008064	Ichthyosis	348938	NIPAL4	ORPHA:79394
HP:0008064	Ichthyosis	121214	SDR9C7	ORPHA:313
HP:0008064	Ichthyosis	121214	SDR9C7	OMIM:617574
HP:0008064	Ichthyosis	121214	SDR9C7	ORPHA:79394
HP:0008064	Ichthyosis	26227	PHGDH	OMIM:256520
HP:0008064	Ichthyosis	8879	SGPL1	OMIM:617575
HP:0008064	Ichthyosis	91754	NEK9	ORPHA:64754
HP:0008064	Ichthyosis	6897	TARS1	OMIM:618546
HP:0008064	Ichthyosis	6897	TARS1	ORPHA:33364
HP:0008064	Ichthyosis	5189	PEX1	ORPHA:3220
HP:0008064	Ichthyosis	5189	PEX1	ORPHA:772
HP:0008064	Ichthyosis	5190	PEX6	ORPHA:3220
HP:0008064	Ichthyosis	5190	PEX6	ORPHA:772
HP:0008064	Ichthyosis	10283	CWC27	OMIM:250410
HP:0008064	Ichthyosis	10283	CWC27	ORPHA:166035
HP:0008064	Ichthyosis	4893	NRAS	OMIM:163200
HP:0008064	Ichthyosis	3265	HRAS	OMIM:163200
HP:0008064	Ichthyosis	2312	FLG	OMIM:146700
HP:0008064	Ichthyosis	2312	FLG	ORPHA:461
HP:0008064	Ichthyosis	285362	SUMF1	OMIM:272200
HP:0008064	Ichthyosis	285362	SUMF1	ORPHA:585
HP:0008064	Ichthyosis	79092	CARD14	ORPHA:2897
HP:0008064	Ichthyosis	57152	SLURP1	ORPHA:87503
HP:0008064	Ichthyosis	57152	SLURP1	OMIM:248300
HP:0008064	Ichthyosis	6786	STIM1	OMIM:185070
HP:0008064	Ichthyosis	6786	STIM1	ORPHA:3204
HP:0008064	Ichthyosis	55670	PEX26	ORPHA:772
HP:0008064	Ichthyosis	5824	PEX19	ORPHA:772
HP:0008064	Ichthyosis	5828	PEX2	ORPHA:772
HP:0008064	Ichthyosis	8504	PEX3	ORPHA:772
HP:0008064	Ichthyosis	9409	PEX16	ORPHA:772
HP:0008064	Ichthyosis	8799	PEX11B	ORPHA:772
HP:0008064	Ichthyosis	5830	PEX5	ORPHA:772
HP:0008064	Ichthyosis	5193	PEX12	ORPHA:772
HP:0008064	Ichthyosis	5194	PEX13	ORPHA:772
HP:0008064	Ichthyosis	5195	PEX14	ORPHA:772
HP:0008064	Ichthyosis	5192	PEX10	ORPHA:772
HP:0008064	Ichthyosis	415	ARSL	OMIM:302950
HP:0008064	Ichthyosis	10848	PPP1R13L	OMIM:620519
HP:0008064	Ichthyosis	2961	GTF2E2	OMIM:616943
HP:0008064	Ichthyosis	2961	GTF2E2	ORPHA:33364
HP:0008064	Ichthyosis	404672	GTF2H5	ORPHA:33364
HP:0008064	Ichthyosis	404672	GTF2H5	OMIM:616395
HP:0008064	Ichthyosis	833	CARS1	ORPHA:33364
HP:0008064	Ichthyosis	2068	ERCC2	ORPHA:33364
HP:0008064	Ichthyosis	7737	RNF113A	ORPHA:33364
HP:0008064	Ichthyosis	136647	MPLKIP	ORPHA:33364
HP:0008064	Ichthyosis	16	AARS1	ORPHA:33364
HP:0008064	Ichthyosis	2071	ERCC3	ORPHA:33364
HP:0008064	Ichthyosis	2071	ERCC3	OMIM:616390
HP:0008064	Ichthyosis	64127	NOD2	ORPHA:90340
HP:0008064	Ichthyosis	9526	MPDU1	ORPHA:79323
HP:0008064	Ichthyosis	2273	FHL1	ORPHA:98863
HP:0008064	Ichthyosis	2010	EMD	ORPHA:98863
HP:0008064	Ichthyosis	84876	ORAI1	ORPHA:3204
HP:0008064	Ichthyosis	9333	TGM5	ORPHA:263534
HP:0008064	Ichthyosis	6595	SMARCA2	OMIM:601358
HP:0008064	Ichthyosis	55315	SLC29A3	ORPHA:168569
HP:0008064	Ichthyosis	6307	MSMO1	OMIM:616834
HP:0008064	Ichthyosis	204219	CERS3	ORPHA:79394
HP:0008064	Ichthyosis	285848	PNPLA1	ORPHA:79394
HP:0008064	Ichthyosis	1828	DSG1	OMIM:615508
HP:0008064	Ichthyosis	4000	LMNA	ORPHA:98855
HP:0008064	Ichthyosis	4000	LMNA	ORPHA:98853
HP:0008064	Ichthyosis	2260	FGFR1	ORPHA:478
HP:0008064	Ichthyosis	10371	SEMA3A	ORPHA:478
HP:0008064	Ichthyosis	81848	SPRY4	ORPHA:478
HP:0008064	Ichthyosis	23767	FLRT3	ORPHA:478
HP:0008064	Ichthyosis	128674	PROKR2	ORPHA:478
HP:0008064	Ichthyosis	79625	NDNF	ORPHA:478
HP:0008064	Ichthyosis	2253	FGF8	ORPHA:478
HP:0008064	Ichthyosis	389549	FEZF1	ORPHA:478
HP:0008064	Ichthyosis	1630	DCC	ORPHA:478
HP:0008064	Ichthyosis	3730	ANOS1	ORPHA:478
HP:0008064	Ichthyosis	54756	IL17RD	ORPHA:478
HP:0008064	Ichthyosis	6663	SOX10	ORPHA:478
HP:0008064	Ichthyosis	285025	CCDC141	ORPHA:478
HP:0008064	Ichthyosis	60675	PROK2	ORPHA:478
HP:0008064	Ichthyosis	55636	CHD7	ORPHA:478
HP:0008064	Ichthyosis	1848	DUSP6	ORPHA:478
HP:0008064	Ichthyosis	6870	TACR3	ORPHA:478
HP:0008064	Ichthyosis	55717	WDR11	ORPHA:478
HP:0008064	Ichthyosis	9394	HS6ST1	ORPHA:478
HP:0008064	Ichthyosis	8820	HESX1	ORPHA:478
HP:0008064	Ichthyosis	8822	FGF17	ORPHA:478
HP:0008064	Ichthyosis	79188	TMEM43	ORPHA:98853
HP:0008064	Ichthyosis	23345	SYNE1	ORPHA:98853
HP:0008064	Ichthyosis	23224	SYNE2	ORPHA:98853
HP:0008064	Ichthyosis	11005	SPINK5	ORPHA:634
HP:0008064	Ichthyosis	6720	SREBF1	OMIM:619016
HP:0000972	Palmoplantar hyperkeratosis	5317	PKP1	OMIM:604536
HP:0000972	Palmoplantar hyperkeratosis	7051	TGM1	OMIM:242300
HP:0000972	Palmoplantar hyperkeratosis	7051	TGM1	ORPHA:100976
HP:0000972	Palmoplantar hyperkeratosis	3858	KRT10	OMIM:607602
HP:0000972	Palmoplantar hyperkeratosis	3858	KRT10	OMIM:620150
HP:0000972	Palmoplantar hyperkeratosis	3858	KRT10	OMIM:609165
HP:0000972	Palmoplantar hyperkeratosis	3852	KRT5	OMIM:619555
HP:0000972	Palmoplantar hyperkeratosis	3852	KRT5	OMIM:131760
HP:0000972	Palmoplantar hyperkeratosis	3852	KRT5	ORPHA:158681
HP:0000972	Palmoplantar hyperkeratosis	3861	KRT14	OMIM:131760
HP:0000972	Palmoplantar hyperkeratosis	3861	KRT14	ORPHA:89838
HP:0000972	Palmoplantar hyperkeratosis	3861	KRT14	ORPHA:69087
HP:0000972	Palmoplantar hyperkeratosis	3861	KRT14	OMIM:131900
HP:0000972	Palmoplantar hyperkeratosis	3861	KRT14	OMIM:125595
HP:0000972	Palmoplantar hyperkeratosis	121214	SDR9C7	OMIM:617574
HP:0000972	Palmoplantar hyperkeratosis	55505	NOP10	OMIM:224230
HP:0000972	Palmoplantar hyperkeratosis	55651	NHP2	OMIM:224230
HP:0000972	Palmoplantar hyperkeratosis	11012	KLK11	OMIM:620507
HP:0000972	Palmoplantar hyperkeratosis	1075	CTSC	OMIM:170650
HP:0000972	Palmoplantar hyperkeratosis	1075	CTSC	OMIM:245000
HP:0000972	Palmoplantar hyperkeratosis	1075	CTSC	ORPHA:678
HP:0000972	Palmoplantar hyperkeratosis	8710	SERPINB7	OMIM:615598
HP:0000972	Palmoplantar hyperkeratosis	121391	KRT74	OMIM:194300
HP:0000972	Palmoplantar hyperkeratosis	3868	KRT16	OMIM:167200
HP:0000972	Palmoplantar hyperkeratosis	3868	KRT16	ORPHA:2199
HP:0000972	Palmoplantar hyperkeratosis	3848	KRT1	OMIM:620148
HP:0000972	Palmoplantar hyperkeratosis	3848	KRT1	OMIM:113800
HP:0000972	Palmoplantar hyperkeratosis	3848	KRT1	ORPHA:2199
HP:0000972	Palmoplantar hyperkeratosis	3848	KRT1	OMIM:620411
HP:0000972	Palmoplantar hyperkeratosis	3248	HPGD	OMIM:259100
HP:0000972	Palmoplantar hyperkeratosis	3857	KRT9	OMIM:144200
HP:0000972	Palmoplantar hyperkeratosis	3857	KRT9	ORPHA:2199
HP:0000972	Palmoplantar hyperkeratosis	3891	KRT85	OMIM:602032
HP:0000972	Palmoplantar hyperkeratosis	2706	GJB2	ORPHA:2698
HP:0000972	Palmoplantar hyperkeratosis	2706	GJB2	OMIM:602540
HP:0000972	Palmoplantar hyperkeratosis	2706	GJB2	OMIM:148350
HP:0000972	Palmoplantar hyperkeratosis	7373	COL14A1	ORPHA:79501
HP:0000972	Palmoplantar hyperkeratosis	79719	AAGAB	ORPHA:79501
HP:0000972	Palmoplantar hyperkeratosis	10804	GJB6	ORPHA:189
HP:0000972	Palmoplantar hyperkeratosis	10804	GJB6	OMIM:129500
HP:0000972	Palmoplantar hyperkeratosis	5605	MAP2K2	OMIM:615280
HP:0000972	Palmoplantar hyperkeratosis	5728	PTEN	OMIM:158350
HP:0000972	Palmoplantar hyperkeratosis	57511	COG6	ORPHA:363523
HP:0000972	Palmoplantar hyperkeratosis	57511	COG6	OMIM:615328
HP:0000972	Palmoplantar hyperkeratosis	5159	PDGFRB	OMIM:601812
HP:0000972	Palmoplantar hyperkeratosis	10651	MTX2	OMIM:619127
HP:0000972	Palmoplantar hyperkeratosis	22861	NLRP1	OMIM:617388
HP:0000972	Palmoplantar hyperkeratosis	1294	COL7A1	ORPHA:158673
HP:0000972	Palmoplantar hyperkeratosis	51360	MBTPS2	OMIM:300918
HP:0000972	Palmoplantar hyperkeratosis	64065	PERP	OMIM:619209
HP:0000972	Palmoplantar hyperkeratosis	64065	PERP	OMIM:619208
HP:0000972	Palmoplantar hyperkeratosis	55612	FERMT1	OMIM:173650
HP:0000972	Palmoplantar hyperkeratosis	3872	KRT17	OMIM:167210
HP:0000972	Palmoplantar hyperkeratosis	5818	NECTIN1	ORPHA:3253
HP:0000972	Palmoplantar hyperkeratosis	5818	NECTIN1	OMIM:225060
HP:0000972	Palmoplantar hyperkeratosis	7015	TERT	OMIM:613989
HP:0000972	Palmoplantar hyperkeratosis	5339	PLEC	OMIM:226670
HP:0000972	Palmoplantar hyperkeratosis	3889	KRT83	OMIM:617756
HP:0000972	Palmoplantar hyperkeratosis	9487	PIGL	OMIM:280000
HP:0000972	Palmoplantar hyperkeratosis	80326	WNT10A	OMIM:257980
HP:0000972	Palmoplantar hyperkeratosis	8086	AAAS	OMIM:231550
HP:0000972	Palmoplantar hyperkeratosis	1828	DSG1	OMIM:148700
HP:0000972	Palmoplantar hyperkeratosis	9896	FIG4	OMIM:216340
HP:0000972	Palmoplantar hyperkeratosis	1832	DSP	OMIM:605676
HP:0000972	Palmoplantar hyperkeratosis	5290	PIK3CA	OMIM:615108
HP:0000972	Palmoplantar hyperkeratosis	207	AKT1	OMIM:615109
HP:0000972	Palmoplantar hyperkeratosis	667	DST	OMIM:615425
HP:0000972	Palmoplantar hyperkeratosis	2531	KDSR	OMIM:617526
HP:0000972	Palmoplantar hyperkeratosis	4014	LORICRIN	ORPHA:79395
HP:0000972	Palmoplantar hyperkeratosis	4047	LSS	ORPHA:1366
HP:0000972	Palmoplantar hyperkeratosis	79092	CARD14	OMIM:173200
HP:0000972	Palmoplantar hyperkeratosis	79092	CARD14	ORPHA:2897
HP:0000972	Palmoplantar hyperkeratosis	56916	SMARCAD1	OMIM:129200
HP:0000972	Palmoplantar hyperkeratosis	56916	SMARCAD1	ORPHA:384
HP:0000972	Palmoplantar hyperkeratosis	79650	USB1	OMIM:604173
HP:0000972	Palmoplantar hyperkeratosis	79650	USB1	ORPHA:1775
HP:0000972	Palmoplantar hyperkeratosis	1308	COL17A1	ORPHA:79406
HP:0000972	Palmoplantar hyperkeratosis	1308	COL17A1	ORPHA:79402
HP:0000972	Palmoplantar hyperkeratosis	4312	MMP1	ORPHA:79408
HP:0000972	Palmoplantar hyperkeratosis	3728	JUP	OMIM:601214
HP:0000972	Palmoplantar hyperkeratosis	3728	JUP	ORPHA:34217
HP:0000972	Palmoplantar hyperkeratosis	3728	JUP	OMIM:611528
HP:0000972	Palmoplantar hyperkeratosis	162	AP1B1	OMIM:242150
HP:0000972	Palmoplantar hyperkeratosis	5167	ENPP1	OMIM:615522
HP:0000972	Palmoplantar hyperkeratosis	4574	MT-TS1	ORPHA:2202
HP:0000972	Palmoplantar hyperkeratosis	1824	DSC2	OMIM:610476
HP:0000972	Palmoplantar hyperkeratosis	162514	TRPV3	ORPHA:659
HP:0000972	Palmoplantar hyperkeratosis	162514	TRPV3	OMIM:614594
HP:0000972	Palmoplantar hyperkeratosis	8626	TP63	OMIM:106260
HP:0000972	Palmoplantar hyperkeratosis	8626	TP63	OMIM:129400
HP:0000972	Palmoplantar hyperkeratosis	3849	KRT2	ORPHA:455
HP:0000972	Palmoplantar hyperkeratosis	284654	RSPO1	ORPHA:85112
HP:0000972	Palmoplantar hyperkeratosis	284654	RSPO1	OMIM:610644
HP:0000972	Palmoplantar hyperkeratosis	5604	MAP2K1	ORPHA:1340
HP:0000972	Palmoplantar hyperkeratosis	3845	KRAS	ORPHA:1340
HP:0000972	Palmoplantar hyperkeratosis	673	BRAF	ORPHA:1340
HP:0000972	Palmoplantar hyperkeratosis	6578	SLCO2A1	ORPHA:2796
HP:0000972	Palmoplantar hyperkeratosis	3909	LAMA3	ORPHA:79402
HP:0000972	Palmoplantar hyperkeratosis	3918	LAMC2	ORPHA:79402
HP:0000972	Palmoplantar hyperkeratosis	3691	ITGB4	ORPHA:79402
HP:0000972	Palmoplantar hyperkeratosis	3914	LAMB3	ORPHA:79402
HP:0000972	Palmoplantar hyperkeratosis	2697	GJA1	ORPHA:2710
HP:0000972	Palmoplantar hyperkeratosis	2697	GJA1	OMIM:104100
HP:0000972	Palmoplantar hyperkeratosis	2697	GJA1	OMIM:617525
HP:0000972	Palmoplantar hyperkeratosis	2697	GJA1	ORPHA:1010
HP:0000972	Palmoplantar hyperkeratosis	26154	ABCA12	OMIM:601277
HP:0000972	Palmoplantar hyperkeratosis	26154	ABCA12	ORPHA:79394
HP:0000972	Palmoplantar hyperkeratosis	6898	TAT	ORPHA:28378
HP:0000972	Palmoplantar hyperkeratosis	10483	SEC23B	ORPHA:201
HP:0000972	Palmoplantar hyperkeratosis	6390	SDHB	ORPHA:201
HP:0000972	Palmoplantar hyperkeratosis	6392	SDHD	ORPHA:201
HP:0000972	Palmoplantar hyperkeratosis	6391	SDHC	ORPHA:201
HP:0000972	Palmoplantar hyperkeratosis	205717	USF3	ORPHA:201
HP:0000972	Palmoplantar hyperkeratosis	100144748	KLLN	ORPHA:201
HP:0000972	Palmoplantar hyperkeratosis	1475	CSTA	OMIM:607936
HP:0000972	Palmoplantar hyperkeratosis	285848	PNPLA1	OMIM:615024
HP:0000972	Palmoplantar hyperkeratosis	285848	PNPLA1	ORPHA:79394
HP:0000972	Palmoplantar hyperkeratosis	23328	SASH1	OMIM:618373
HP:0000972	Palmoplantar hyperkeratosis	1474	CST6	OMIM:618535
HP:0000972	Palmoplantar hyperkeratosis	412	STS	OMIM:308100
HP:0000972	Palmoplantar hyperkeratosis	3853	KRT6A	ORPHA:2309
HP:0000972	Palmoplantar hyperkeratosis	3853	KRT6A	OMIM:615726
HP:0000972	Palmoplantar hyperkeratosis	3854	KRT6B	ORPHA:2309
HP:0000972	Palmoplantar hyperkeratosis	3854	KRT6B	OMIM:615728
HP:0000972	Palmoplantar hyperkeratosis	54795	TRPM4	ORPHA:316
HP:0000972	Palmoplantar hyperkeratosis	59344	ALOXE3	OMIM:242100
HP:0000972	Palmoplantar hyperkeratosis	59344	ALOXE3	OMIM:606545
HP:0000972	Palmoplantar hyperkeratosis	59344	ALOXE3	ORPHA:79394
HP:0000972	Palmoplantar hyperkeratosis	242	ALOX12B	OMIM:242100
HP:0000972	Palmoplantar hyperkeratosis	242	ALOX12B	ORPHA:79394
HP:0000972	Palmoplantar hyperkeratosis	126410	CYP4F22	OMIM:604777
HP:0000972	Palmoplantar hyperkeratosis	348938	NIPAL4	OMIM:612281
HP:0000972	Palmoplantar hyperkeratosis	348938	NIPAL4	ORPHA:79394
HP:0000972	Palmoplantar hyperkeratosis	29926	GMPPA	ORPHA:869
HP:0000972	Palmoplantar hyperkeratosis	60684	TRAPPC11	ORPHA:869
HP:0000972	Palmoplantar hyperkeratosis	5184	PEPD	ORPHA:742
HP:0000972	Palmoplantar hyperkeratosis	51371	POMP	ORPHA:281201
HP:0000972	Palmoplantar hyperkeratosis	57152	SLURP1	ORPHA:87503
HP:0000972	Palmoplantar hyperkeratosis	25959	KANK2	OMIM:616099
HP:0000972	Palmoplantar hyperkeratosis	2263	FGFR2	ORPHA:1555
HP:0000972	Palmoplantar hyperkeratosis	488	ATP2A2	ORPHA:218
HP:0000972	Palmoplantar hyperkeratosis	57192	MCOLN1	ORPHA:578
HP:0000972	Palmoplantar hyperkeratosis	1493	CTLA4	ORPHA:3162
HP:0000972	Palmoplantar hyperkeratosis	940	CD28	ORPHA:3162
HP:0000972	Palmoplantar hyperkeratosis	7133	TNFRSF1B	ORPHA:3162
HP:0000972	Palmoplantar hyperkeratosis	9342	SNAP29	OMIM:609528
HP:0000972	Palmoplantar hyperkeratosis	10848	PPP1R13L	OMIM:620519
HP:0000972	Palmoplantar hyperkeratosis	79977	GRHL2	OMIM:616029
HP:0000972	Palmoplantar hyperkeratosis	286887	KRT6C	OMIM:615735
HP:0000972	Palmoplantar hyperkeratosis	79651	RHBDF2	ORPHA:2198
HP:0000972	Palmoplantar hyperkeratosis	79644	SRD5A3	ORPHA:324737
HP:0000972	Palmoplantar hyperkeratosis	1080	CFTR	ORPHA:498359
HP:0000972	Palmoplantar hyperkeratosis	80169	CTC1	ORPHA:1775
HP:0000972	Palmoplantar hyperkeratosis	26277	TINF2	ORPHA:1775
HP:0000972	Palmoplantar hyperkeratosis	55135	WRAP53	ORPHA:1775
HP:0000972	Palmoplantar hyperkeratosis	51750	RTEL1	ORPHA:1775
HP:0000972	Palmoplantar hyperkeratosis	4869	NPM1	ORPHA:1775
HP:0000972	Palmoplantar hyperkeratosis	7012	TERC	ORPHA:1775
HP:0000972	Palmoplantar hyperkeratosis	5073	PARN	ORPHA:1775
HP:0000972	Palmoplantar hyperkeratosis	1736	DKC1	ORPHA:1775
HP:0000972	Palmoplantar hyperkeratosis	7298	TYMS	ORPHA:1775
HP:0000972	Palmoplantar hyperkeratosis	127534	GJB4	OMIM:617524
HP:0000972	Palmoplantar hyperkeratosis	7286	TUFT1	OMIM:620415
HP:0000972	Palmoplantar hyperkeratosis	204219	CERS3	ORPHA:79394
HP:0000972	Palmoplantar hyperkeratosis	6820	SULT2B1	ORPHA:79394
HP:0000972	Palmoplantar hyperkeratosis	2707	GJB3	ORPHA:317
HP:0000972	Palmoplantar hyperkeratosis	2707	GJB3	OMIM:133200
HP:0000972	Palmoplantar hyperkeratosis	362	AQP5	OMIM:600231
HP:0000972	Palmoplantar hyperkeratosis	362	AQP5	ORPHA:2337
HP:0000972	Palmoplantar hyperkeratosis	145264	SERPINA12	ORPHA:86923
HP:0000972	Palmoplantar hyperkeratosis	54800	KLHL24	OMIM:617294
HP:0000972	Palmoplantar hyperkeratosis	831	CAST	OMIM:616295
HP:0000972	Palmoplantar hyperkeratosis	26276	VPS33B	OMIM:620009
HP:0007529	Hidrotic ectodermal dysplasia	526	ATP6V1B2	OMIM:124480
HP:0007530	Punctate palmoplantar hyperkeratosis	5167	ENPP1	OMIM:615522
HP:0007530	Punctate palmoplantar hyperkeratosis	488	ATP2A2	OMIM:101900
HP:0007530	Punctate palmoplantar hyperkeratosis	488	ATP2A2	ORPHA:79151
HP:0007530	Punctate palmoplantar hyperkeratosis	3861	KRT14	ORPHA:69087
HP:0007530	Punctate palmoplantar hyperkeratosis	831	CAST	OMIM:616295
HP:0007530	Punctate palmoplantar hyperkeratosis	79719	AAGAB	OMIM:148600
HP:0007530	Punctate palmoplantar hyperkeratosis	3852	KRT5	OMIM:131960
HP:0007605	Excessive wrinkling of palmar skin	715	C1R	OMIM:130080
HP:0007605	Excessive wrinkling of palmar skin	2261	FGFR3	OMIM:616482
HP:0007605	Excessive wrinkling of palmar skin	22808	MRAS	OMIM:618499
HP:0007605	Excessive wrinkling of palmar skin	5351	PLOD1	OMIM:225400
HP:0007605	Excessive wrinkling of palmar skin	8216	LZTR1	OMIM:616564
HP:0007605	Excessive wrinkling of palmar skin	8216	LZTR1	OMIM:605275
HP:0007605	Excessive wrinkling of palmar skin	84627	ZNF469	OMIM:229200
HP:0007605	Excessive wrinkling of palmar skin	6016	RIT1	OMIM:615355
HP:0007605	Excessive wrinkling of palmar skin	2263	FGFR2	OMIM:123790
HP:0007605	Excessive wrinkling of palmar skin	23545	ATP6V0A2	OMIM:278250
HP:0007605	Excessive wrinkling of palmar skin	9333	TGM5	ORPHA:263534
HP:0007605	Excessive wrinkling of palmar skin	1475	CSTA	ORPHA:263534
HP:0007605	Excessive wrinkling of palmar skin	79718	TBL1XR1	ORPHA:487825
HP:0012890	Posteriorly placed anus	7547	ZIC3	OMIM:306955
HP:0025175	Honeycomb lung	6440	SFTPC	ORPHA:2032
HP:0025175	Honeycomb lung	729238	SFTPA2	ORPHA:2032
HP:0025175	Honeycomb lung	79991	STN1	ORPHA:2032
HP:0025175	Honeycomb lung	653509	SFTPA1	ORPHA:2032
HP:0025175	Honeycomb lung	21	ABCA3	ORPHA:2032
HP:0025175	Honeycomb lung	21	ABCA3	OMIM:610921
HP:0025175	Honeycomb lung	1832	DSP	ORPHA:2032
HP:0025175	Honeycomb lung	727897	MUC5B	ORPHA:2032
HP:0025175	Honeycomb lung	10144	FAM13A	ORPHA:2032
HP:0025175	Honeycomb lung	23250	ATP11A	ORPHA:2032
HP:0025175	Honeycomb lung	91039	DPP9	ORPHA:2032
HP:0025175	Honeycomb lung	51750	RTEL1	ORPHA:2032
HP:0025175	Honeycomb lung	7012	TERC	ORPHA:2032
HP:0025175	Honeycomb lung	5073	PARN	ORPHA:2032
HP:0025175	Honeycomb lung	5073	PARN	OMIM:616371
HP:0025175	Honeycomb lung	7015	TERT	ORPHA:2032
HP:0025177	Peribronchovascular interstitial thickening	25981	DNAH1	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	115948	ODAD3	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	54768	HYDIN	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	352909	DNAAF3	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	27148	STK36	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	51314	NME8	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	92749	DRC1	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	54970	TTC12	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	152110	NEK10	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	8481	OFD1	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	2302	FOXJ1	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	221421	RSPH9	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	85478	CCDC65	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	55036	CCDC40	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	51364	ZMYND10	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	64446	DNAI2	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	8382	NME5	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	6674	SPAG1	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	83544	DNAL1	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	89765	RSPH1	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	83538	ODAD4	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	200373	CFAP221	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	374407	DNAJB13	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	55172	DNAAF2	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	161582	DNAAF4	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	2622	GAS8	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	23639	DNAAF11	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	27019	DNAI1	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	345895	RSPH4A	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	54919	DNAAF5	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	6103	RPGR	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	85452	CFAP74	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	93233	ODAD1	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	55130	ODAD2	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	1767	DNAH5	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	83861	RSPH3	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	345643	MCIDAS	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	56683	CFAP298	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	79925	SPEF2	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	10309	CCNO	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	115399	LRRC56	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	139212	DNAAF6	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	123872	DNAAF1	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	85016	CFAP300	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	339829	CCDC39	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	8701	DNAH11	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	1770	DNAH9	ORPHA:244
HP:0025177	Peribronchovascular interstitial thickening	246176	GAS2L2	ORPHA:244
HP:0025178	Subpleural interstitial thickening	10568	SLC34A2	ORPHA:60025
HP:0025179	Ground-glass opacification	6439	SFTPB	OMIM:265120
HP:0025179	Ground-glass opacification	3115	HLA-DPB1	ORPHA:133
HP:0025179	Ground-glass opacification	1438	CSF2RA	OMIM:300770
HP:0025179	Ground-glass opacification	64135	IFIH1	OMIM:619773
HP:0025179	Ground-glass opacification	653509	SFTPA1	OMIM:619611
HP:0025179	Ground-glass opacification	653509	SFTPA1	ORPHA:2032
HP:0025179	Ground-glass opacification	6440	SFTPC	ORPHA:2032
HP:0025179	Ground-glass opacification	6440	SFTPC	OMIM:610913
HP:0025179	Ground-glass opacification	729238	SFTPA2	ORPHA:2032
HP:0025179	Ground-glass opacification	79991	STN1	ORPHA:2032
HP:0025179	Ground-glass opacification	21	ABCA3	ORPHA:2032
HP:0025179	Ground-glass opacification	21	ABCA3	OMIM:610921
HP:0025179	Ground-glass opacification	1832	DSP	ORPHA:2032
HP:0025179	Ground-glass opacification	727897	MUC5B	ORPHA:2032
HP:0025179	Ground-glass opacification	10144	FAM13A	ORPHA:2032
HP:0025179	Ground-glass opacification	23250	ATP11A	ORPHA:2032
HP:0025179	Ground-glass opacification	91039	DPP9	ORPHA:2032
HP:0025179	Ground-glass opacification	51750	RTEL1	ORPHA:2032
HP:0025179	Ground-glass opacification	7012	TERC	ORPHA:2032
HP:0025179	Ground-glass opacification	5073	PARN	ORPHA:2032
HP:0025179	Ground-glass opacification	7015	TERT	ORPHA:2032
HP:0025179	Ground-glass opacification	440275	EIF2AK4	ORPHA:199241
HP:0025179	Ground-glass opacification	1439	CSF2RB	OMIM:614370
HP:0025179	Ground-glass opacification	10568	SLC34A2	ORPHA:60025
HP:0025179	Ground-glass opacification	826	CAPNS1	OMIM:620777
HP:0025179	Ground-glass opacification	10551	AGR2	OMIM:620233
HP:0025179	Ground-glass opacification	7080	NKX2-1	OMIM:610978
HP:0025179	Ground-glass opacification	659	BMPR2	OMIM:265450
HP:0012899	Handgrip myotonia	6329	SCN4A	ORPHA:684
HP:0012899	Handgrip myotonia	6329	SCN4A	OMIM:168300
HP:0012899	Handgrip myotonia	6329	SCN4A	OMIM:608390
HP:0012899	Handgrip myotonia	6329	SCN4A	ORPHA:99734
HP:0012899	Handgrip myotonia	58	ACTA1	ORPHA:97240
HP:0012899	Handgrip myotonia	5813	PURA	ORPHA:438216
HP:0012899	Handgrip myotonia	7555	CNBP	OMIM:602668
HP:0012899	Handgrip myotonia	1180	CLCN1	OMIM:160800
HP:0012899	Handgrip myotonia	3094	HINT1	ORPHA:324442
HP:0012896	Abnormal motor evoked potentials	1593	CYP27A1	ORPHA:909
HP:0012896	Abnormal motor evoked potentials	10273	STUB1	ORPHA:412057
HP:0012896	Abnormal motor evoked potentials	26278	SACS	ORPHA:98
HP:0012896	Abnormal motor evoked potentials	3708	ITPR1	OMIM:117360
HP:0012896	Abnormal motor evoked potentials	4747	NEFL	ORPHA:99939
HP:0012896	Abnormal motor evoked potentials	57165	GJC2	ORPHA:320401
HP:0012896	Abnormal motor evoked potentials	6253	RTN2	ORPHA:100993
HP:0012896	Abnormal motor evoked potentials	51271	UBAP1	ORPHA:100993
HP:0012896	Abnormal motor evoked potentials	126129	CPT1C	ORPHA:444099
HP:0012896	Abnormal motor evoked potentials	3839	KPNA3	ORPHA:171612
HP:0012896	Abnormal motor evoked potentials	9897	WASHC5	ORPHA:100989
HP:0012896	Abnormal motor evoked potentials	9197	SLC33A1	ORPHA:171863
HP:0012898	Abnormal lower-limb motor evoked potentials	6253	RTN2	ORPHA:100993
HP:0012898	Abnormal lower-limb motor evoked potentials	51271	UBAP1	ORPHA:100993
HP:0012898	Abnormal lower-limb motor evoked potentials	126129	CPT1C	ORPHA:444099
HP:0012898	Abnormal lower-limb motor evoked potentials	3839	KPNA3	ORPHA:171612
HP:0012898	Abnormal lower-limb motor evoked potentials	9897	WASHC5	ORPHA:100989
HP:0012898	Abnormal lower-limb motor evoked potentials	9197	SLC33A1	ORPHA:171863
HP:0012892	Facial muscle hypertrophy	6329	SCN4A	ORPHA:684
HP:0012893	Neck muscle hypertrophy	25792	CIZ1	ORPHA:420492
HP:0007534	Congenital posterior occipital alopecia	3265	HRAS	ORPHA:79414
HP:0007537	Severe photosensitivity	1717	DHCR7	OMIM:270400
HP:0007537	Severe photosensitivity	7390	UROS	ORPHA:79277
HP:0007537	Severe photosensitivity	2623	GATA1	ORPHA:79277
HP:0007537	Severe photosensitivity	378884	NHLRC1	ORPHA:501
HP:0007537	Severe photosensitivity	7957	EPM2A	ORPHA:501
HP:0007537	Severe photosensitivity	7389	UROD	ORPHA:95159
HP:0007522	Increased number of skin folds	203068	TUBB	ORPHA:2505
HP:0007522	Increased number of skin folds	10982	MAPRE2	ORPHA:2505
HP:0007522	Increased number of skin folds	2006	ELN	ORPHA:90348
HP:0007522	Increased number of skin folds	10516	FBLN5	ORPHA:90348
HP:0007522	Increased number of skin folds	5832	ALDH18A1	ORPHA:90348
HP:0007522	Increased number of skin folds	2677	GGCX	ORPHA:436274
HP:0007524	Atypical neurofibromatosis	4763	NF1	ORPHA:97685
HP:0007525	Yellow subcutaneous tissue covered by thin, scaly skin	26227	PHGDH	OMIM:256520
HP:0025180	Centrilobular ground-glass opacification on pulmonary HRCT	659	BMPR2	OMIM:265450
HP:0025180	Centrilobular ground-glass opacification on pulmonary HRCT	440275	EIF2AK4	OMIM:234810
HP:0025180	Centrilobular ground-glass opacification on pulmonary HRCT	440275	EIF2AK4	ORPHA:199241
HP:0007526	Hypopigmented skin patches on arms	54	ACP5	OMIM:607944
HP:0007590	Aplasia cutis congenita over posterior parietal area	57514	ARHGAP31	OMIM:100300
HP:0025186	Marcus Gunn jaw winking synkinesis	57167	SALL4	ORPHA:233
HP:0025186	Marcus Gunn jaw winking synkinesis	9935	MAFB	ORPHA:233
HP:0025186	Marcus Gunn jaw winking synkinesis	1123	CHN1	ORPHA:233
HP:0025186	Marcus Gunn jaw winking synkinesis	23116	TOGARAM1	OMIM:619185
HP:0025186	Marcus Gunn jaw winking synkinesis	8085	KMT2D	ORPHA:2322
HP:0025186	Marcus Gunn jaw winking synkinesis	7403	KDM6A	ORPHA:2322
HP:0025186	Marcus Gunn jaw winking synkinesis	55605	KIF21A	ORPHA:45358
HP:0025186	Marcus Gunn jaw winking synkinesis	347733	TUBB2B	ORPHA:45358
HP:0025186	Marcus Gunn jaw winking synkinesis	7846	TUBA1A	ORPHA:45358
HP:0025186	Marcus Gunn jaw winking synkinesis	401	PHOX2A	ORPHA:45358
HP:0025186	Marcus Gunn jaw winking synkinesis	10381	TUBB3	ORPHA:45358
HP:0025186	Marcus Gunn jaw winking synkinesis	84570	COL25A1	ORPHA:45358
HP:0025186	Marcus Gunn jaw winking synkinesis	80232	WDR26	OMIM:617616
HP:0025186	Marcus Gunn jaw winking synkinesis	80232	WDR26	ORPHA:513456
HP:0007592	Aplasia/Hypoplasia of the eccrine sweat glands	4000	LMNA	ORPHA:1662
HP:0007592	Aplasia/Hypoplasia of the eccrine sweat glands	10269	ZMPSTE24	ORPHA:1662
HP:0007592	Aplasia/Hypoplasia of the eccrine sweat glands	1896	EDA	OMIM:305100
HP:0007592	Aplasia/Hypoplasia of the eccrine sweat glands	8517	IKBKG	OMIM:300291
HP:0025188	Retinal vasculitis	10625	IVNS1ABP	OMIM:618969
HP:0025188	Retinal vasculitis	3932	LCK	OMIM:615758
HP:0001798	Anonychia	3691	ITGB4	OMIM:226730
HP:0001798	Anonychia	3691	ITGB4	ORPHA:79402
HP:0001798	Anonychia	5339	PLEC	OMIM:226730
HP:0001798	Anonychia	29957	SLC25A24	OMIM:612289
HP:0001798	Anonychia	10804	GJB6	ORPHA:189
HP:0001798	Anonychia	3909	LAMA3	ORPHA:79404
HP:0001798	Anonychia	3909	LAMA3	ORPHA:79402
HP:0001798	Anonychia	3918	LAMC2	ORPHA:79404
HP:0001798	Anonychia	3918	LAMC2	ORPHA:79402
HP:0001798	Anonychia	3914	LAMB3	ORPHA:79404
HP:0001798	Anonychia	3914	LAMB3	ORPHA:79402
HP:0001798	Anonychia	4010	LMX1B	OMIM:161200
HP:0001798	Anonychia	1308	COL17A1	ORPHA:79406
HP:0001798	Anonychia	1308	COL17A1	ORPHA:79402
HP:0001798	Anonychia	4312	MMP1	ORPHA:79408
HP:0001798	Anonychia	1294	COL7A1	ORPHA:79408
HP:0001798	Anonychia	1294	COL7A1	ORPHA:79409
HP:0001798	Anonychia	1294	COL7A1	ORPHA:89842
HP:0001798	Anonychia	1294	COL7A1	ORPHA:79410
HP:0001798	Anonychia	1294	COL7A1	ORPHA:79411
HP:0001798	Anonychia	57465	TBC1D24	OMIM:220500
HP:0001798	Anonychia	4920	ROR2	OMIM:113000
HP:0001798	Anonychia	526	ATP6V1B2	OMIM:616455
HP:0001798	Anonychia	72	ACTG2	ORPHA:2604
HP:0001798	Anonychia	343637	RSPO4	OMIM:206800
HP:0001798	Anonychia	5932	RBBP8	OMIM:251255
HP:0001798	Anonychia	8626	TP63	OMIM:106260
HP:0001798	Anonychia	26137	ZBTB20	ORPHA:3042
HP:0001798	Anonychia	57492	ARID1B	OMIM:135900
HP:0001798	Anonychia	3756	KCNH1	OMIM:135500
HP:0001798	Anonychia	79977	GRHL2	OMIM:616029
HP:0001798	Anonychia	7476	WNT7A	OMIM:276820
HP:0001798	Anonychia	7476	WNT7A	OMIM:613005
HP:0001798	Anonychia	80326	WNT10A	OMIM:257980
HP:0001798	Anonychia	9896	FIG4	OMIM:216340
HP:0001798	Anonychia	9241	NOG	OMIM:186500
HP:0001798	Anonychia	1832	DSP	OMIM:609638
HP:0001798	Anonychia	54101	RIPK4	OMIM:263650
HP:0001798	Anonychia	488	ATP2A2	ORPHA:79151
HP:0001798	Anonychia	4038	LRP4	OMIM:212780
HP:0001798	Anonychia	2239	GPC4	OMIM:301026
HP:0001798	Anonychia	64840	PORCN	OMIM:305600
HP:0001798	Anonychia	3861	KRT14	ORPHA:89838
HP:0001798	Anonychia	3728	JUP	ORPHA:158687
HP:0001798	Anonychia	613	BCR	ORPHA:261330
HP:0001798	Anonychia	1399	CRKL	ORPHA:261330
HP:0001798	Anonychia	5594	MAPK1	ORPHA:261330
HP:0001798	Anonychia	4851	NOTCH1	OMIM:616028
HP:0001798	Anonychia	3782	KCNN3	OMIM:618658
HP:0001798	Anonychia	90459	ERI1	OMIM:620663
HP:0001798	Anonychia	90459	ERI1	OMIM:620662
HP:0001798	Anonychia	324	APC	ORPHA:3258
HP:0001798	Anonychia	3516	RBPJ	ORPHA:974
HP:0001798	Anonychia	57514	ARHGAP31	ORPHA:974
HP:0001798	Anonychia	57572	DOCK6	ORPHA:974
HP:0001798	Anonychia	285203	EOGT	ORPHA:974
HP:0001798	Anonychia	54567	DLL4	ORPHA:974
HP:0001798	Anonychia	6792	CDKL5	ORPHA:1934
HP:0001798	Anonychia	3736	KCNA1	ORPHA:1934
HP:0001798	Anonychia	9091	PIGQ	ORPHA:1934
HP:0001798	Anonychia	140679	SLC32A1	ORPHA:1934
HP:0001798	Anonychia	2775	GNAO1	ORPHA:1934
HP:0001798	Anonychia	81603	TRIM8	ORPHA:1934
HP:0001798	Anonychia	2902	GRIN1	ORPHA:1934
HP:0001798	Anonychia	79751	SLC25A22	ORPHA:1934
HP:0001798	Anonychia	150094	SIK1	ORPHA:1934
HP:0001798	Anonychia	8573	CASK	ORPHA:1934
HP:0001798	Anonychia	23312	DMXL2	ORPHA:1934
HP:0001798	Anonychia	2917	GRM7	ORPHA:1934
HP:0001798	Anonychia	170302	ARX	ORPHA:1934
HP:0001798	Anonychia	11284	PNKP	ORPHA:1934
HP:0001798	Anonychia	6326	SCN2A	ORPHA:1934
HP:0001798	Anonychia	51227	PIGP	ORPHA:1934
HP:0001798	Anonychia	6324	SCN1B	ORPHA:1934
HP:0001798	Anonychia	4761	NEUROD2	ORPHA:1934
HP:0001798	Anonychia	8289	ARID1A	OMIM:614607
HP:0001798	Anonychia	5281	PIGF	OMIM:619356
HP:0007598	Bilateral single transverse palmar creases	7291	TWIST1	ORPHA:794
HP:0007598	Bilateral single transverse palmar creases	2263	FGFR2	ORPHA:794
HP:0007598	Bilateral single transverse palmar creases	2261	FGFR3	ORPHA:794
HP:0007598	Bilateral single transverse palmar creases	23476	BRD4	ORPHA:199
HP:0007598	Bilateral single transverse palmar creases	9126	SMC3	ORPHA:199
HP:0007598	Bilateral single transverse palmar creases	8243	SMC1A	ORPHA:199
HP:0007598	Bilateral single transverse palmar creases	6878	TAF6	ORPHA:199
HP:0007598	Bilateral single transverse palmar creases	25836	NIPBL	ORPHA:199
HP:0007598	Bilateral single transverse palmar creases	55869	HDAC8	ORPHA:199
HP:0007598	Bilateral single transverse palmar creases	5885	RAD21	ORPHA:199
HP:0007598	Bilateral single transverse palmar creases	5885	RAD21	ORPHA:502
HP:0007598	Bilateral single transverse palmar creases	5792	PTPRF	OMIM:616001
HP:0007598	Bilateral single transverse palmar creases	8558	CDK10	OMIM:617694
HP:0007598	Bilateral single transverse palmar creases	10908	PNPLA6	ORPHA:2377
HP:0007598	Bilateral single transverse palmar creases	9894	TELO2	ORPHA:488642
HP:0007598	Bilateral single transverse palmar creases	9759	HDAC4	ORPHA:1001
HP:0007598	Bilateral single transverse palmar creases	100151683	RNU4ATAC	ORPHA:353298
HP:0007598	Bilateral single transverse palmar creases	100151683	RNU4ATAC	ORPHA:2636
HP:0007598	Bilateral single transverse palmar creases	157570	ESCO2	ORPHA:3103
HP:0007598	Bilateral single transverse palmar creases	5184	PEPD	ORPHA:742
HP:0007598	Bilateral single transverse palmar creases	2131	EXT1	ORPHA:502
HP:0007598	Bilateral single transverse palmar creases	7227	TRPS1	ORPHA:502
HP:0007598	Bilateral single transverse palmar creases	283989	TSEN54	ORPHA:2524
HP:0007598	Bilateral single transverse palmar creases	116461	TSEN15	ORPHA:2524
HP:0007598	Bilateral single transverse palmar creases	79042	TSEN34	ORPHA:2524
HP:0007598	Bilateral single transverse palmar creases	80746	TSEN2	ORPHA:2524
HP:0007598	Bilateral single transverse palmar creases	51091	SEPSECS	ORPHA:2524
HP:0007598	Bilateral single transverse palmar creases	129563	DIS3L2	ORPHA:2849
HP:0007598	Bilateral single transverse palmar creases	5818	NECTIN1	ORPHA:3253
HP:0007598	Bilateral single transverse palmar creases	150468	CKAP2L	ORPHA:3255
HP:0007598	Bilateral single transverse palmar creases	55670	PEX26	ORPHA:44
HP:0007598	Bilateral single transverse palmar creases	5824	PEX19	ORPHA:44
HP:0007598	Bilateral single transverse palmar creases	5828	PEX2	ORPHA:44
HP:0007598	Bilateral single transverse palmar creases	8504	PEX3	ORPHA:44
HP:0007598	Bilateral single transverse palmar creases	9409	PEX16	ORPHA:44
HP:0007598	Bilateral single transverse palmar creases	5190	PEX6	ORPHA:44
HP:0007598	Bilateral single transverse palmar creases	8799	PEX11B	ORPHA:44
HP:0007598	Bilateral single transverse palmar creases	5830	PEX5	ORPHA:44
HP:0007598	Bilateral single transverse palmar creases	5189	PEX1	ORPHA:44
HP:0007598	Bilateral single transverse palmar creases	5193	PEX12	ORPHA:44
HP:0007598	Bilateral single transverse palmar creases	5194	PEX13	ORPHA:44
HP:0007598	Bilateral single transverse palmar creases	5195	PEX14	ORPHA:44
HP:0007598	Bilateral single transverse palmar creases	5192	PEX10	ORPHA:44
HP:0007598	Bilateral single transverse palmar creases	9469	CHST3	OMIM:143095
HP:0007598	Bilateral single transverse palmar creases	7140	TNNT3	ORPHA:1147
HP:0007598	Bilateral single transverse palmar creases	4621	MYH3	ORPHA:1147
HP:0007598	Bilateral single transverse palmar creases	7169	TPM2	ORPHA:1147
HP:0007598	Bilateral single transverse palmar creases	259232	NALCN	ORPHA:1147
HP:0007598	Bilateral single transverse palmar creases	7136	TNNI2	ORPHA:1147
HP:0007598	Bilateral single transverse palmar creases	23511	NUP188	OMIM:618804
HP:0007598	Bilateral single transverse palmar creases	8200	GDF5	ORPHA:2639
HP:0007598	Bilateral single transverse palmar creases	8200	GDF5	ORPHA:968
HP:0007598	Bilateral single transverse palmar creases	8200	GDF5	ORPHA:3237
HP:0007598	Bilateral single transverse palmar creases	658	BMPR1B	ORPHA:2639
HP:0007598	Bilateral single transverse palmar creases	4087	SMAD2	OMIM:619657
HP:0007598	Bilateral single transverse palmar creases	64359	NXN	ORPHA:1507
HP:0007598	Bilateral single transverse palmar creases	4920	ROR2	ORPHA:1507
HP:0007598	Bilateral single transverse palmar creases	10225	CD96	ORPHA:1308
HP:0007598	Bilateral single transverse palmar creases	23522	KAT6B	ORPHA:3047
HP:0007598	Bilateral single transverse palmar creases	147372	CCBE1	OMIM:235510
HP:0007598	Bilateral single transverse palmar creases	64093	SMOC1	ORPHA:1106
HP:0007598	Bilateral single transverse palmar creases	9896	FIG4	OMIM:216340
HP:0007598	Bilateral single transverse palmar creases	9496	TBX4	ORPHA:261279
HP:0007598	Bilateral single transverse palmar creases	1801	DPH1	ORPHA:459061
HP:0007598	Bilateral single transverse palmar creases	1802	DPH2	ORPHA:459061
HP:0007598	Bilateral single transverse palmar creases	6874	TAF4	OMIM:620450
HP:0007598	Bilateral single transverse palmar creases	9241	NOG	ORPHA:3237
HP:0007598	Bilateral single transverse palmar creases	2254	FGF9	ORPHA:3237
HP:0007599	Generalized reticulate brown pigmentation	3852	KRT5	ORPHA:158681
HP:0007599	Generalized reticulate brown pigmentation	3852	KRT5	ORPHA:79396
HP:0007599	Generalized reticulate brown pigmentation	3861	KRT14	ORPHA:69087
HP:0007599	Generalized reticulate brown pigmentation	3861	KRT14	ORPHA:79396
HP:0007599	Generalized reticulate brown pigmentation	5422	POLA1	OMIM:301220
HP:0007583	Telangiectasia macularis eruptiva perstans	3815	KIT	ORPHA:79455
HP:0007583	Telangiectasia macularis eruptiva perstans	3815	KIT	OMIM:154800
HP:0007585	Skin fragility with non-scarring blistering	3852	KRT5	ORPHA:158681
HP:0007585	Skin fragility with non-scarring blistering	3852	KRT5	ORPHA:79397
HP:0007585	Skin fragility with non-scarring blistering	3852	KRT5	ORPHA:79399
HP:0007585	Skin fragility with non-scarring blistering	3852	KRT5	ORPHA:79400
HP:0007585	Skin fragility with non-scarring blistering	5339	PLEC	OMIM:131950
HP:0007585	Skin fragility with non-scarring blistering	5339	PLEC	ORPHA:158684
HP:0007585	Skin fragility with non-scarring blistering	3861	KRT14	ORPHA:79397
HP:0007585	Skin fragility with non-scarring blistering	3861	KRT14	ORPHA:79399
HP:0007585	Skin fragility with non-scarring blistering	3861	KRT14	ORPHA:79400
HP:0007585	Skin fragility with non-scarring blistering	3691	ITGB4	ORPHA:158684
HP:0001100	Heterochromia iridis	3265	HRAS	ORPHA:79414
HP:0001100	Heterochromia iridis	4286	MITF	ORPHA:895
HP:0001100	Heterochromia iridis	4286	MITF	OMIM:193510
HP:0001100	Heterochromia iridis	4286	MITF	OMIM:103500
HP:0001100	Heterochromia iridis	7299	TYR	ORPHA:895
HP:0001100	Heterochromia iridis	6591	SNAI2	ORPHA:895
HP:0001100	Heterochromia iridis	6591	SNAI2	ORPHA:2884
HP:0001100	Heterochromia iridis	1910	EDNRB	ORPHA:895
HP:0001100	Heterochromia iridis	1910	EDNRB	OMIM:277580
HP:0001100	Heterochromia iridis	4254	KITLG	ORPHA:895
HP:0001100	Heterochromia iridis	4254	KITLG	OMIM:619947
HP:0001100	Heterochromia iridis	6663	SOX10	ORPHA:895
HP:0001100	Heterochromia iridis	6663	SOX10	ORPHA:163746
HP:0001100	Heterochromia iridis	6663	SOX10	OMIM:613266
HP:0001100	Heterochromia iridis	6663	SOX10	OMIM:611584
HP:0001100	Heterochromia iridis	6663	SOX10	OMIM:609136
HP:0001100	Heterochromia iridis	5077	PAX3	ORPHA:894
HP:0001100	Heterochromia iridis	5077	PAX3	OMIM:193500
HP:0001100	Heterochromia iridis	5077	PAX3	OMIM:148820
HP:0001100	Heterochromia iridis	80153	EDC3	OMIM:616460
HP:0001100	Heterochromia iridis	3815	KIT	OMIM:172800
HP:0001100	Heterochromia iridis	3815	KIT	ORPHA:2884
HP:0001100	Heterochromia iridis	8518	ELP1	ORPHA:1764
HP:0001100	Heterochromia iridis	71	ACTG1	ORPHA:2995
HP:0001100	Heterochromia iridis	60	ACTB	ORPHA:2995
HP:0001100	Heterochromia iridis	2776	GNAQ	ORPHA:3205
HP:0001100	Heterochromia iridis	1908	EDN3	OMIM:613265
HP:0001100	Heterochromia iridis	5728	PTEN	ORPHA:2969
HP:0001100	Heterochromia iridis	4157	MC1R	ORPHA:79432
HP:0001100	Heterochromia iridis	4948	OCA2	ORPHA:79432
HP:0001100	Heterochromia iridis	57167	SALL4	ORPHA:233
HP:0001100	Heterochromia iridis	9935	MAFB	ORPHA:233
HP:0001100	Heterochromia iridis	1123	CHN1	ORPHA:233
HP:0001100	Heterochromia iridis	10908	PNPLA6	OMIM:275400
HP:0001100	Heterochromia iridis	207	AKT1	ORPHA:744
HP:0001100	Heterochromia iridis	4010	LMX1B	ORPHA:2614
HP:0001100	Heterochromia iridis	4010	LMX1B	OMIM:161200
HP:0001101	Iritis	3106	HLA-B	ORPHA:29207
HP:0001101	Iritis	64127	NOD2	OMIM:186580
HP:0001102	Angioid streaks of the fundus	4982	TNFRSF11B	OMIM:239000
HP:0001102	Angioid streaks of the fundus	2591	GALNT3	OMIM:211900
HP:0001102	Angioid streaks of the fundus	5290	PIK3CA	OMIM:615108
HP:0001102	Angioid streaks of the fundus	207	AKT1	OMIM:615109
HP:0001102	Angioid streaks of the fundus	5728	PTEN	OMIM:158350
HP:0001102	Angioid streaks of the fundus	5167	ENPP1	ORPHA:758
HP:0001102	Angioid streaks of the fundus	5167	ENPP1	ORPHA:51608
HP:0001102	Angioid streaks of the fundus	368	ABCC6	ORPHA:758
HP:0001102	Angioid streaks of the fundus	368	ABCC6	OMIM:177850
HP:0001102	Angioid streaks of the fundus	368	ABCC6	OMIM:264800
HP:0001102	Angioid streaks of the fundus	368	ABCC6	ORPHA:51608
HP:0001102	Angioid streaks of the fundus	2677	GGCX	OMIM:610842
HP:0001102	Angioid streaks of the fundus	2677	GGCX	ORPHA:91135
HP:0001102	Angioid streaks of the fundus	64131	XYLT1	OMIM:264800
HP:0001102	Angioid streaks of the fundus	64132	XYLT2	OMIM:264800
HP:0001103	Abnormal macular morphology	3423	IDS	ORPHA:217085
HP:0001103	Abnormal macular morphology	3423	IDS	ORPHA:217093
HP:0001103	Abnormal macular morphology	8842	PROM1	ORPHA:827
HP:0001103	Abnormal macular morphology	5961	PRPH2	ORPHA:827
HP:0001103	Abnormal macular morphology	6785	ELOVL4	ORPHA:827
HP:0001103	Abnormal macular morphology	24	ABCA4	ORPHA:827
HP:0001103	Abnormal macular morphology	6247	RS1	ORPHA:792
HP:0001103	Abnormal macular morphology	6017	RLBP1	ORPHA:85128
HP:0001103	Abnormal macular morphology	26121	PRPF31	OMIM:600138
HP:0001103	Abnormal macular morphology	735	C9	OMIM:615591
HP:0001103	Abnormal macular morphology	83394	PITPNM3	OMIM:600977
HP:0001103	Abnormal macular morphology	84839	RAX2	OMIM:610381
HP:0001103	Abnormal macular morphology	84839	RAX2	OMIM:613757
HP:0001103	Abnormal macular morphology	94137	RP1L1	OMIM:618826
HP:0001103	Abnormal macular morphology	3426	CFI	OMIM:615439
HP:0001103	Abnormal macular morphology	5654	HTRA1	OMIM:610149
HP:0001103	Abnormal macular morphology	1471	CST3	OMIM:611953
HP:0001103	Abnormal macular morphology	23078	VWA8	OMIM:620422
HP:0001103	Abnormal macular morphology	130557	ZNF513	OMIM:613617
HP:0001103	Abnormal macular morphology	9094	UNC119	OMIM:620342
HP:0001103	Abnormal macular morphology	10516	FBLN5	OMIM:608895
HP:0001103	Abnormal macular morphology	10516	FBLN5	OMIM:619764
HP:0001103	Abnormal macular morphology	23503	ZFYVE26	OMIM:270700
HP:0001103	Abnormal macular morphology	49855	SCAPER	OMIM:618195
HP:0001103	Abnormal macular morphology	6011	GRK1	ORPHA:75382
HP:0001103	Abnormal macular morphology	6295	SAG	ORPHA:75382
HP:0001103	Abnormal macular morphology	114902	C1QTNF5	ORPHA:67042
HP:0001103	Abnormal macular morphology	368	ABCC6	OMIM:177850
HP:0001103	Abnormal macular morphology	368	ABCC6	OMIM:264800
HP:0001103	Abnormal macular morphology	64131	XYLT1	OMIM:264800
HP:0001103	Abnormal macular morphology	64132	XYLT2	OMIM:264800
HP:0001103	Abnormal macular morphology	123016	TTC8	OMIM:613464
HP:0001103	Abnormal macular morphology	1356	CP	ORPHA:48818
HP:0001103	Abnormal macular morphology	9128	PRPF4	OMIM:615922
HP:0001103	Abnormal macular morphology	224	ALDH3A2	ORPHA:816
HP:0001103	Abnormal macular morphology	224	ALDH3A2	OMIM:270200
HP:0001103	Abnormal macular morphology	768206	PRCD	OMIM:610599
HP:0001103	Abnormal macular morphology	2979	GUCA1B	OMIM:613827
HP:0001103	Abnormal macular morphology	6314	ATXN7	OMIM:164500
HP:0001103	Abnormal macular morphology	6314	ATXN7	ORPHA:94147
HP:0001103	Abnormal macular morphology	80208	SPG11	OMIM:604360
HP:0001103	Abnormal macular morphology	348	APOE	OMIM:603075
HP:0001103	Abnormal macular morphology	10878	CFHR3	OMIM:603075
HP:0001103	Abnormal macular morphology	83872	HMCN1	OMIM:603075
HP:0001103	Abnormal macular morphology	3078	CFHR1	OMIM:603075
HP:0001103	Abnormal macular morphology	2192	FBLN1	ORPHA:404451
HP:0001103	Abnormal macular morphology	427	ASAH1	ORPHA:333
HP:0001103	Abnormal macular morphology	55129	ANO10	ORPHA:284289
HP:0001103	Abnormal macular morphology	64218	SEMA4A	OMIM:610283
HP:0001103	Abnormal macular morphology	5538	PPT1	OMIM:256730
HP:0001103	Abnormal macular morphology	57096	RPGRIP1	OMIM:608194
HP:0001103	Abnormal macular morphology	84131	CEP78	OMIM:617236
HP:0001103	Abnormal macular morphology	404672	GTF2H5	ORPHA:33364
HP:0001103	Abnormal macular morphology	833	CARS1	ORPHA:33364
HP:0001103	Abnormal macular morphology	2068	ERCC2	ORPHA:33364
HP:0001103	Abnormal macular morphology	7737	RNF113A	ORPHA:33364
HP:0001103	Abnormal macular morphology	136647	MPLKIP	ORPHA:33364
HP:0001103	Abnormal macular morphology	6897	TARS1	ORPHA:33364
HP:0001103	Abnormal macular morphology	16	AARS1	ORPHA:33364
HP:0001103	Abnormal macular morphology	2071	ERCC3	ORPHA:33364
HP:0001103	Abnormal macular morphology	2961	GTF2E2	ORPHA:33364
HP:0001103	Abnormal macular morphology	26146	TRAF3IP1	OMIM:616629
HP:0001103	Abnormal macular morphology	5076	PAX2	OMIM:120330
HP:0001103	Abnormal macular morphology	1001	CDH3	OMIM:601553
HP:0001103	Abnormal macular morphology	1001	CDH3	ORPHA:1573
HP:0001103	Abnormal macular morphology	9742	IFT140	OMIM:266920
HP:0001103	Abnormal macular morphology	3980	LIG3	OMIM:619780
HP:0001103	Abnormal macular morphology	1201	CLN3	OMIM:204200
HP:0001103	Abnormal macular morphology	80781	COL18A1	ORPHA:1571
HP:0001103	Abnormal macular morphology	5062	PAK2	ORPHA:1571
HP:0001103	Abnormal macular morphology	1258	CNGB1	OMIM:613767
HP:0001103	Abnormal macular morphology	3075	CFH	OMIM:610698
HP:0001103	Abnormal macular morphology	2201	FBN2	OMIM:616118
HP:0001103	Abnormal macular morphology	6609	SMPD1	OMIM:607616
HP:0001103	Abnormal macular morphology	22926	ATF6	ORPHA:49382
HP:0001103	Abnormal macular morphology	5146	PDE6C	ORPHA:49382
HP:0001103	Abnormal macular morphology	6103	RPGR	ORPHA:49382
HP:0001103	Abnormal macular morphology	5149	PDE6H	ORPHA:49382
HP:0001103	Abnormal macular morphology	2780	GNAT2	ORPHA:49382
HP:0001103	Abnormal macular morphology	1261	CNGA3	ORPHA:49382
HP:0001103	Abnormal macular morphology	54714	CNGB3	ORPHA:49382
HP:0001103	Abnormal macular morphology	8943	AP3D1	ORPHA:54
HP:0001103	Abnormal macular morphology	4935	GPR143	ORPHA:54
HP:0001103	Abnormal macular morphology	8813	DPM1	OMIM:608799
HP:0001103	Abnormal macular morphology	9227	LRAT	ORPHA:364055
HP:0001103	Abnormal macular morphology	55812	SPATA7	ORPHA:364055
HP:0001103	Abnormal macular morphology	6121	RPE65	ORPHA:364055
HP:0001103	Abnormal macular morphology	167691	LCA5	ORPHA:364055
HP:0001103	Abnormal macular morphology	4693	NDP	ORPHA:90050
HP:0001103	Abnormal macular morphology	4693	NDP	ORPHA:190
HP:0001103	Abnormal macular morphology	4041	LRP5	ORPHA:90050
HP:0001103	Abnormal macular morphology	8322	FZD4	ORPHA:90050
HP:0001103	Abnormal macular morphology	5277	PIGA	OMIM:300868
HP:0001103	Abnormal macular morphology	324	APC	ORPHA:99818
HP:0001103	Abnormal macular morphology	57724	EPG5	ORPHA:1493
HP:0001103	Abnormal macular morphology	1908	EDN3	ORPHA:897
HP:0001103	Abnormal macular morphology	4286	MITF	ORPHA:897
HP:0001103	Abnormal macular morphology	1910	EDNRB	ORPHA:897
HP:0001103	Abnormal macular morphology	6663	SOX10	ORPHA:897
HP:0001103	Abnormal macular morphology	9382	COG1	ORPHA:263508
HP:0001103	Abnormal macular morphology	4942	OAT	ORPHA:414
HP:0001103	Abnormal macular morphology	10682	EBP	OMIM:300960
HP:0001103	Abnormal macular morphology	3913	LAMB2	OMIM:614199
HP:0001103	Abnormal macular morphology	3913	LAMB2	OMIM:609049
HP:0001103	Abnormal macular morphology	1806	DPYD	ORPHA:1675
HP:0001103	Abnormal macular morphology	8777	MPDZ	OMIM:615219
HP:0001103	Abnormal macular morphology	4094	MAF	OMIM:610202
HP:0001103	Abnormal macular morphology	1130	LYST	OMIM:214500
HP:0001103	Abnormal macular morphology	51151	SLC45A2	OMIM:606574
HP:0001103	Abnormal macular morphology	220202	ATOH7	ORPHA:91495
HP:0001103	Abnormal macular morphology	3166	HMX1	OMIM:612109
HP:0001103	Abnormal macular morphology	64802	NMNAT1	OMIM:619260
HP:0001103	Abnormal macular morphology	64802	NMNAT1	OMIM:608553
HP:0001103	Abnormal macular morphology	5631	PRPS1	ORPHA:423479
HP:0001103	Abnormal macular morphology	149461	CLDN19	ORPHA:2196
HP:0001103	Abnormal macular morphology	149461	CLDN19	OMIM:248190
HP:0001103	Abnormal macular morphology	55714	TENM3	OMIM:615145
HP:0001103	Abnormal macular morphology	9785	DHX38	OMIM:618220
HP:0001103	Abnormal macular morphology	25974	MMACHC	ORPHA:79282
HP:0001103	Abnormal macular morphology	23418	CRB1	OMIM:613835
HP:0001103	Abnormal macular morphology	23568	ARL2BP	OMIM:615434
HP:0001103	Abnormal macular morphology	157657	CFAP418	OMIM:614500
HP:0001103	Abnormal macular morphology	54585	LZTFL1	OMIM:615994
HP:0001103	Abnormal macular morphology	10733	PLK4	OMIM:616171
HP:0001103	Abnormal macular morphology	3000	GUCY2D	OMIM:601777
HP:0001103	Abnormal macular morphology	3000	GUCY2D	ORPHA:75377
HP:0001103	Abnormal macular morphology	2629	GBA1	OMIM:230800
HP:0001103	Abnormal macular morphology	3098	HK1	OMIM:617460
HP:0001103	Abnormal macular morphology	10461	MERTK	OMIM:613862
HP:0001103	Abnormal macular morphology	169522	KCNV2	OMIM:610356
HP:0001103	Abnormal macular morphology	2978	GUCA1A	ORPHA:75377
HP:0001103	Abnormal macular morphology	2978	GUCA1A	OMIM:602093
HP:0001103	Abnormal macular morphology	128338	DRAM2	OMIM:616502
HP:0001103	Abnormal macular morphology	4901	NRL	OMIM:613750
HP:0001103	Abnormal macular morphology	8565	YARS1	OMIM:619418
HP:0001103	Abnormal macular morphology	57728	WDR19	OMIM:616307
HP:0001103	Abnormal macular morphology	9187	SLC24A1	OMIM:613830
HP:0001103	Abnormal macular morphology	26504	CNNM4	OMIM:217080
HP:0001103	Abnormal macular morphology	6533	SLC6A6	OMIM:145350
HP:0001103	Abnormal macular morphology	6100	RP9	OMIM:180104
HP:0001103	Abnormal macular morphology	4990	SIX6	OMIM:212550
HP:0001103	Abnormal macular morphology	23746	AIPL1	OMIM:604393
HP:0001103	Abnormal macular morphology	63915	BLOC1S5	OMIM:619172
HP:0001103	Abnormal macular morphology	57479	PRR12	OMIM:619539
HP:0001103	Abnormal macular morphology	7299	TYR	OMIM:203100
HP:0001103	Abnormal macular morphology	7299	TYR	ORPHA:79431
HP:0001103	Abnormal macular morphology	7299	TYR	ORPHA:79434
HP:0001103	Abnormal macular morphology	7360	UGP2	OMIM:618744
HP:0001103	Abnormal macular morphology	92154	MTSS2	OMIM:620086
HP:0001103	Abnormal macular morphology	146167	SLC38A8	OMIM:609218
HP:0001103	Abnormal macular morphology	89781	HPS4	OMIM:614073
HP:0001103	Abnormal macular morphology	11234	HPS5	OMIM:614074
HP:0001103	Abnormal macular morphology	388552	BLOC1S3	OMIM:614077
HP:0001103	Abnormal macular morphology	1638	DCT	OMIM:619165
HP:0001103	Abnormal macular morphology	7855	FZD5	OMIM:620731
HP:0001103	Abnormal macular morphology	3708	ITPR1	OMIM:206700
HP:0001103	Abnormal macular morphology	392255	GDF6	OMIM:613703
HP:0001103	Abnormal macular morphology	9573	GDF3	OMIM:613703
HP:0001103	Abnormal macular morphology	8517	IKBKG	OMIM:308300
HP:0001103	Abnormal macular morphology	60386	SLC25A19	OMIM:607196
HP:0001103	Abnormal macular morphology	4758	NEU1	ORPHA:93400
HP:0001103	Abnormal macular morphology	2202	EFEMP1	ORPHA:75376
HP:0001103	Abnormal macular morphology	4166	CHST6	OMIM:217800
HP:0001103	Abnormal macular morphology	3617	IMPG1	OMIM:153870
HP:0001103	Abnormal macular morphology	3617	IMPG1	OMIM:616151
HP:0001103	Abnormal macular morphology	344658	SAMD7	OMIM:620762
HP:0001103	Abnormal macular morphology	5189	PEX1	OMIM:234580
HP:0001103	Abnormal macular morphology	93426	SYCE1	OMIM:616947
HP:0001103	Abnormal macular morphology	4644	MYO5A	ORPHA:33445
HP:0001103	Abnormal macular morphology	256471	MFSD8	OMIM:616170
HP:0001103	Abnormal macular morphology	50939	IMPG2	OMIM:616152
HP:0001103	Abnormal macular morphology	7078	TIMP3	OMIM:136900
HP:0001103	Abnormal macular morphology	7078	TIMP3	ORPHA:59181
HP:0001103	Abnormal macular morphology	7439	BEST1	OMIM:153700
HP:0001103	Abnormal macular morphology	92002	CCNQ	ORPHA:140952
HP:0001103	Abnormal macular morphology	129880	BBS5	OMIM:615983
HP:0001103	Abnormal macular morphology	103	ADAR	ORPHA:41
HP:0001103	Abnormal macular morphology	80173	IFT74	OMIM:617119
HP:0001103	Abnormal macular morphology	4157	MC1R	ORPHA:79432
HP:0001103	Abnormal macular morphology	4948	OCA2	ORPHA:79432
HP:0001103	Abnormal macular morphology	1495	CTNNA1	OMIM:608970
HP:0001103	Abnormal macular morphology	778	CACNA1F	OMIM:300476
HP:0001103	Abnormal macular morphology	5130	PCYT1A	OMIM:608940
HP:0001103	Abnormal macular morphology	343035	RD3	OMIM:610612
HP:0001103	Abnormal macular morphology	5956	OPN1LW	OMIM:303700
HP:0001103	Abnormal macular morphology	2652	OPN1MW	OMIM:303700
HP:0001103	Abnormal macular morphology	10002	NR2E3	OMIM:611131
HP:0001103	Abnormal macular morphology	283652	SLC24A5	ORPHA:370097
HP:0001103	Abnormal macular morphology	5080	PAX6	ORPHA:250923
HP:0001103	Abnormal macular morphology	2296	FOXC1	ORPHA:250923
HP:0001103	Abnormal macular morphology	54765	TRIM44	ORPHA:250923
HP:0001103	Abnormal macular morphology	4117	MAK	OMIM:614181
HP:0001103	Abnormal macular morphology	3035	HARS1	OMIM:614504
HP:0001103	Abnormal macular morphology	54499	TMCO1	OMIM:213980
HP:0001103	Abnormal macular morphology	6102	RP2	OMIM:312600
HP:0001103	Abnormal macular morphology	54675	CRLS1	OMIM:620167
HP:0001103	Abnormal macular morphology	3614	IMPDH1	OMIM:180105
HP:0001103	Abnormal macular morphology	157680	VPS13B	OMIM:216550
HP:0001103	Abnormal macular morphology	10594	PRPF8	OMIM:600059
HP:0001103	Abnormal macular morphology	10594	PRPF8	ORPHA:791
HP:0001103	Abnormal macular morphology	92840	REEP6	ORPHA:791
HP:0001103	Abnormal macular morphology	92840	REEP6	OMIM:617304
HP:0001103	Abnormal macular morphology	6094	ROM1	ORPHA:791
HP:0001103	Abnormal macular morphology	7401	CLRN1	ORPHA:791
HP:0001103	Abnormal macular morphology	582	BBS1	ORPHA:791
HP:0001103	Abnormal macular morphology	92211	CDHR1	ORPHA:791
HP:0001103	Abnormal macular morphology	54806	AHI1	ORPHA:791
HP:0001103	Abnormal macular morphology	6101	RP1	ORPHA:791
HP:0001103	Abnormal macular morphology	3419	IDH3A	ORPHA:791
HP:0001103	Abnormal macular morphology	3419	IDH3A	OMIM:619007
HP:0001103	Abnormal macular morphology	4751	NEK2	ORPHA:791
HP:0001103	Abnormal macular morphology	346007	EYS	ORPHA:791
HP:0001103	Abnormal macular morphology	8100	IFT88	ORPHA:791
HP:0001103	Abnormal macular morphology	23020	SNRNP200	ORPHA:791
HP:0001103	Abnormal macular morphology	762	CA4	ORPHA:791
HP:0001103	Abnormal macular morphology	196	AHR	ORPHA:791
HP:0001103	Abnormal macular morphology	26160	IFT172	ORPHA:791
HP:0001103	Abnormal macular morphology	583	BBS2	ORPHA:791
HP:0001103	Abnormal macular morphology	25794	FSCN2	ORPHA:791
HP:0001103	Abnormal macular morphology	375298	CERKL	ORPHA:791
HP:0001103	Abnormal macular morphology	3420	IDH3B	ORPHA:791
HP:0001103	Abnormal macular morphology	57670	KIAA1549	ORPHA:791
HP:0001103	Abnormal macular morphology	57670	KIAA1549	OMIM:618613
HP:0001103	Abnormal macular morphology	7275	TUB	ORPHA:791
HP:0001103	Abnormal macular morphology	24148	PRPF6	ORPHA:791
HP:0001103	Abnormal macular morphology	57709	SLC7A14	ORPHA:791
HP:0001103	Abnormal macular morphology	7399	USH2A	ORPHA:791
HP:0001103	Abnormal macular morphology	23370	ARHGEF18	ORPHA:791
HP:0001103	Abnormal macular morphology	23370	ARHGEF18	OMIM:617433
HP:0001103	Abnormal macular morphology	5949	RBP3	ORPHA:791
HP:0001103	Abnormal macular morphology	84140	FAM161A	ORPHA:791
HP:0001103	Abnormal macular morphology	55624	POMGNT1	ORPHA:791
HP:0001103	Abnormal macular morphology	55624	POMGNT1	OMIM:617123
HP:0001103	Abnormal macular morphology	403	ARL3	ORPHA:791
HP:0001103	Abnormal macular morphology	403	ARL3	OMIM:618173
HP:0001103	Abnormal macular morphology	5145	PDE6A	ORPHA:791
HP:0001103	Abnormal macular morphology	10210	TOPORS	ORPHA:791
HP:0001103	Abnormal macular morphology	145226	RDH12	ORPHA:791
HP:0001103	Abnormal macular morphology	57545	CC2D2A	ORPHA:791
HP:0001103	Abnormal macular morphology	1259	CNGA1	ORPHA:791
HP:0001103	Abnormal macular morphology	60509	AGBL5	ORPHA:791
HP:0001103	Abnormal macular morphology	388939	PCARE	ORPHA:791
HP:0001103	Abnormal macular morphology	5995	RGR	ORPHA:791
HP:0001103	Abnormal macular morphology	9129	PRPF3	ORPHA:791
HP:0001103	Abnormal macular morphology	55975	KLHL7	ORPHA:791
HP:0001103	Abnormal macular morphology	55975	KLHL7	OMIM:612943
HP:0001103	Abnormal macular morphology	5158	PDE6B	ORPHA:791
HP:0001103	Abnormal macular morphology	55857	KIZ	ORPHA:791
HP:0001103	Abnormal macular morphology	84100	ARL6	ORPHA:791
HP:0001103	Abnormal macular morphology	79947	DHDDS	ORPHA:791
HP:0001103	Abnormal macular morphology	79947	DHDDS	OMIM:613861
HP:0001103	Abnormal macular morphology	285440	CYP4V2	ORPHA:41751
HP:0001103	Abnormal macular morphology	64127	NOD2	OMIM:186580
HP:0001103	Abnormal macular morphology	3105	HLA-A	ORPHA:179
HP:0001103	Abnormal macular morphology	1121	CHM	ORPHA:180
HP:0001103	Abnormal macular morphology	1181	CLCN2	OMIM:615651
HP:0001103	Abnormal macular morphology	5167	ENPP1	ORPHA:51608
HP:0001103	Abnormal macular morphology	5167	ENPP1	ORPHA:758
HP:0001103	Abnormal macular morphology	7867	MAPKAPK3	OMIM:617111
HP:0001103	Abnormal macular morphology	189	AGXT	OMIM:259900
HP:0001103	Abnormal macular morphology	7123	CLEC3B	OMIM:619977
HP:0001103	Abnormal macular morphology	1406	CRX	OMIM:120970
HP:0001103	Abnormal macular morphology	83552	MFRP	OMIM:611040
HP:0001103	Abnormal macular morphology	9364	RAB28	OMIM:615374
HP:0001103	Abnormal macular morphology	1499	CTNNB1	ORPHA:891
HP:0001103	Abnormal macular morphology	23554	TSPAN12	ORPHA:891
HP:0001103	Abnormal macular morphology	79797	ZNF408	ORPHA:891
HP:0001103	Abnormal macular morphology	6010	RHO	ORPHA:52427
HP:0001103	Abnormal macular morphology	5959	RDH5	ORPHA:52427
HP:0001103	Abnormal macular morphology	83723	TLCD3B	OMIM:619531
HP:0001103	Abnormal macular morphology	8481	OFD1	OMIM:300424
HP:0001103	Abnormal macular morphology	79803	HPS6	OMIM:614075
HP:0001103	Abnormal macular morphology	5148	PDE6G	OMIM:613582
HP:0001103	Abnormal macular morphology	5950	RBP4	OMIM:615147
HP:0001103	Abnormal macular morphology	7490	WT1	OMIM:106210
HP:0001103	Abnormal macular morphology	7287	TULP1	OMIM:613843
HP:0001103	Abnormal macular morphology	7428	VHL	ORPHA:892
HP:0001103	Abnormal macular morphology	595	CCND1	ORPHA:892
HP:0001103	Abnormal macular morphology	11277	TREX1	ORPHA:247691
HP:0001103	Abnormal macular morphology	11277	TREX1	OMIM:192315
HP:0001103	Abnormal macular morphology	51095	TRNT1	OMIM:616959
HP:0001103	Abnormal macular morphology	138050	HGSNAT	OMIM:616544
HP:0001103	Abnormal macular morphology	114548	NLRP3	OMIM:148200
HP:0001103	Abnormal macular morphology	4771	NF2	ORPHA:637
HP:0001103	Abnormal macular morphology	4771	NF2	OMIM:101000
HP:0001103	Abnormal macular morphology	4982	TNFRSF11B	OMIM:239000
HP:0001103	Abnormal macular morphology	6452	SH3BP2	OMIM:118400
HP:0001104	Macular hypoplasia	80781	COL18A1	OMIM:267750
HP:0001104	Macular hypoplasia	57724	EPG5	OMIM:242840
HP:0001104	Macular hypoplasia	10682	EBP	OMIM:300960
HP:0001104	Macular hypoplasia	3913	LAMB2	OMIM:614199
HP:0001104	Macular hypoplasia	3913	LAMB2	OMIM:609049
HP:0001104	Macular hypoplasia	79803	HPS6	OMIM:614075
HP:0001104	Macular hypoplasia	1806	DPYD	ORPHA:1675
HP:0001104	Macular hypoplasia	5080	PAX6	ORPHA:2334
HP:0001104	Macular hypoplasia	8777	MPDZ	OMIM:615219
HP:0001104	Macular hypoplasia	4094	MAF	OMIM:610202
HP:0001104	Macular hypoplasia	1130	LYST	OMIM:214500
HP:0001104	Macular hypoplasia	51151	SLC45A2	OMIM:606574
HP:0001104	Macular hypoplasia	4693	NDP	ORPHA:91495
HP:0001104	Macular hypoplasia	220202	ATOH7	ORPHA:91495
HP:0001104	Macular hypoplasia	8322	FZD4	ORPHA:91495
HP:0001104	Macular hypoplasia	3166	HMX1	OMIM:612109
HP:0001105	Retinal atrophy	92840	REEP6	ORPHA:791
HP:0001105	Retinal atrophy	92840	REEP6	OMIM:617304
HP:0001105	Retinal atrophy	6094	ROM1	ORPHA:791
HP:0001105	Retinal atrophy	6017	RLBP1	ORPHA:791
HP:0001105	Retinal atrophy	6017	RLBP1	ORPHA:52427
HP:0001105	Retinal atrophy	7401	CLRN1	ORPHA:791
HP:0001105	Retinal atrophy	24	ABCA4	ORPHA:791
HP:0001105	Retinal atrophy	24	ABCA4	ORPHA:1872
HP:0001105	Retinal atrophy	130557	ZNF513	ORPHA:791
HP:0001105	Retinal atrophy	582	BBS1	ORPHA:791
HP:0001105	Retinal atrophy	92211	CDHR1	ORPHA:791
HP:0001105	Retinal atrophy	92211	CDHR1	ORPHA:1872
HP:0001105	Retinal atrophy	23568	ARL2BP	ORPHA:791
HP:0001105	Retinal atrophy	6121	RPE65	ORPHA:791
HP:0001105	Retinal atrophy	54806	AHI1	ORPHA:791
HP:0001105	Retinal atrophy	6101	RP1	ORPHA:791
HP:0001105	Retinal atrophy	3419	IDH3A	ORPHA:791
HP:0001105	Retinal atrophy	4751	NEK2	ORPHA:791
HP:0001105	Retinal atrophy	346007	EYS	ORPHA:791
HP:0001105	Retinal atrophy	8100	IFT88	ORPHA:791
HP:0001105	Retinal atrophy	23020	SNRNP200	ORPHA:791
HP:0001105	Retinal atrophy	762	CA4	ORPHA:791
HP:0001105	Retinal atrophy	138050	HGSNAT	ORPHA:791
HP:0001105	Retinal atrophy	138050	HGSNAT	OMIM:616544
HP:0001105	Retinal atrophy	196	AHR	ORPHA:791
HP:0001105	Retinal atrophy	3614	IMPDH1	ORPHA:791
HP:0001105	Retinal atrophy	123016	TTC8	ORPHA:791
HP:0001105	Retinal atrophy	6103	RPGR	ORPHA:791
HP:0001105	Retinal atrophy	6103	RPGR	ORPHA:1872
HP:0001105	Retinal atrophy	1406	CRX	ORPHA:791
HP:0001105	Retinal atrophy	1406	CRX	ORPHA:1872
HP:0001105	Retinal atrophy	5148	PDE6G	ORPHA:791
HP:0001105	Retinal atrophy	26160	IFT172	ORPHA:791
HP:0001105	Retinal atrophy	26121	PRPF31	ORPHA:791
HP:0001105	Retinal atrophy	583	BBS2	ORPHA:791
HP:0001105	Retinal atrophy	4117	MAK	ORPHA:791
HP:0001105	Retinal atrophy	25794	FSCN2	ORPHA:791
HP:0001105	Retinal atrophy	375298	CERKL	ORPHA:791
HP:0001105	Retinal atrophy	3420	IDH3B	ORPHA:791
HP:0001105	Retinal atrophy	57670	KIAA1549	ORPHA:791
HP:0001105	Retinal atrophy	7275	TUB	ORPHA:791
HP:0001105	Retinal atrophy	24148	PRPF6	ORPHA:791
HP:0001105	Retinal atrophy	23418	CRB1	ORPHA:791
HP:0001105	Retinal atrophy	10461	MERTK	ORPHA:791
HP:0001105	Retinal atrophy	57709	SLC7A14	ORPHA:791
HP:0001105	Retinal atrophy	57709	SLC7A14	OMIM:615725
HP:0001105	Retinal atrophy	768206	PRCD	ORPHA:791
HP:0001105	Retinal atrophy	7399	USH2A	ORPHA:791
HP:0001105	Retinal atrophy	23370	ARHGEF18	ORPHA:791
HP:0001105	Retinal atrophy	5949	RBP3	ORPHA:791
HP:0001105	Retinal atrophy	6010	RHO	ORPHA:791
HP:0001105	Retinal atrophy	6010	RHO	OMIM:613731
HP:0001105	Retinal atrophy	6010	RHO	ORPHA:52427
HP:0001105	Retinal atrophy	6100	RP9	ORPHA:791
HP:0001105	Retinal atrophy	10002	NR2E3	ORPHA:791
HP:0001105	Retinal atrophy	9227	LRAT	ORPHA:791
HP:0001105	Retinal atrophy	84140	FAM161A	ORPHA:791
HP:0001105	Retinal atrophy	55812	SPATA7	ORPHA:791
HP:0001105	Retinal atrophy	55624	POMGNT1	ORPHA:791
HP:0001105	Retinal atrophy	55624	POMGNT1	OMIM:253280
HP:0001105	Retinal atrophy	79797	ZNF408	ORPHA:791
HP:0001105	Retinal atrophy	403	ARL3	ORPHA:791
HP:0001105	Retinal atrophy	5145	PDE6A	ORPHA:791
HP:0001105	Retinal atrophy	10210	TOPORS	ORPHA:791
HP:0001105	Retinal atrophy	8842	PROM1	ORPHA:791
HP:0001105	Retinal atrophy	8842	PROM1	ORPHA:1872
HP:0001105	Retinal atrophy	9128	PRPF4	ORPHA:791
HP:0001105	Retinal atrophy	145226	RDH12	ORPHA:791
HP:0001105	Retinal atrophy	50939	IMPG2	ORPHA:791
HP:0001105	Retinal atrophy	57545	CC2D2A	ORPHA:791
HP:0001105	Retinal atrophy	8481	OFD1	ORPHA:791
HP:0001105	Retinal atrophy	49855	SCAPER	ORPHA:791
HP:0001105	Retinal atrophy	9742	IFT140	ORPHA:791
HP:0001105	Retinal atrophy	2979	GUCA1B	ORPHA:791
HP:0001105	Retinal atrophy	1259	CNGA1	ORPHA:791
HP:0001105	Retinal atrophy	1258	CNGB1	ORPHA:791
HP:0001105	Retinal atrophy	60509	AGBL5	ORPHA:791
HP:0001105	Retinal atrophy	5961	PRPH2	ORPHA:791
HP:0001105	Retinal atrophy	5961	PRPH2	ORPHA:52427
HP:0001105	Retinal atrophy	5961	PRPH2	ORPHA:1872
HP:0001105	Retinal atrophy	388939	PCARE	ORPHA:791
HP:0001105	Retinal atrophy	7439	BEST1	ORPHA:791
HP:0001105	Retinal atrophy	9785	DHX38	ORPHA:791
HP:0001105	Retinal atrophy	7287	TULP1	ORPHA:791
HP:0001105	Retinal atrophy	5995	RGR	ORPHA:791
HP:0001105	Retinal atrophy	9129	PRPF3	ORPHA:791
HP:0001105	Retinal atrophy	55975	KLHL7	ORPHA:791
HP:0001105	Retinal atrophy	3617	IMPG1	ORPHA:791
HP:0001105	Retinal atrophy	94137	RP1L1	ORPHA:791
HP:0001105	Retinal atrophy	5158	PDE6B	ORPHA:791
HP:0001105	Retinal atrophy	6102	RP2	ORPHA:791
HP:0001105	Retinal atrophy	55857	KIZ	ORPHA:791
HP:0001105	Retinal atrophy	64218	SEMA4A	ORPHA:791
HP:0001105	Retinal atrophy	64218	SEMA4A	ORPHA:1872
HP:0001105	Retinal atrophy	4901	NRL	ORPHA:791
HP:0001105	Retinal atrophy	157657	CFAP418	ORPHA:791
HP:0001105	Retinal atrophy	157657	CFAP418	ORPHA:1872
HP:0001105	Retinal atrophy	157657	CFAP418	OMIM:617406
HP:0001105	Retinal atrophy	10594	PRPF8	ORPHA:791
HP:0001105	Retinal atrophy	84100	ARL6	ORPHA:791
HP:0001105	Retinal atrophy	6295	SAG	ORPHA:791
HP:0001105	Retinal atrophy	79947	DHDDS	ORPHA:791
HP:0001105	Retinal atrophy	22901	ARSG	OMIM:618144
HP:0001105	Retinal atrophy	406987	MIR204	OMIM:616722
HP:0001105	Retinal atrophy	1161	ERCC8	ORPHA:90324
HP:0001105	Retinal atrophy	1161	ERCC8	OMIM:216400
HP:0001105	Retinal atrophy	2074	ERCC6	ORPHA:90324
HP:0001105	Retinal atrophy	10273	STUB1	ORPHA:412057
HP:0001105	Retinal atrophy	84131	CEP78	OMIM:617236
HP:0001105	Retinal atrophy	6247	RS1	OMIM:312700
HP:0001105	Retinal atrophy	1509	CTSD	OMIM:610127
HP:0001105	Retinal atrophy	5959	RDH5	ORPHA:52427
HP:0001105	Retinal atrophy	171023	ASXL1	ORPHA:97297
HP:0001105	Retinal atrophy	5130	PCYT1A	ORPHA:85167
HP:0001105	Retinal atrophy	5130	PCYT1A	OMIM:608940
HP:0001105	Retinal atrophy	284217	LAMA1	OMIM:615960
HP:0001105	Retinal atrophy	284217	LAMA1	ORPHA:370022
HP:0001105	Retinal atrophy	22926	ATF6	ORPHA:1872
HP:0001105	Retinal atrophy	64802	NMNAT1	ORPHA:1872
HP:0001105	Retinal atrophy	84839	RAX2	ORPHA:1872
HP:0001105	Retinal atrophy	57096	RPGRIP1	ORPHA:1872
HP:0001105	Retinal atrophy	1261	CNGA3	ORPHA:1872
HP:0001105	Retinal atrophy	5956	OPN1LW	ORPHA:1872
HP:0001105	Retinal atrophy	755	CFAP410	ORPHA:1872
HP:0001105	Retinal atrophy	778	CACNA1F	ORPHA:1872
HP:0001105	Retinal atrophy	8754	ADAM9	ORPHA:1872
HP:0001105	Retinal atrophy	3000	GUCY2D	ORPHA:1872
HP:0001105	Retinal atrophy	22999	RIMS1	ORPHA:1872
HP:0001105	Retinal atrophy	128338	DRAM2	ORPHA:1872
HP:0001105	Retinal atrophy	2652	OPN1MW	ORPHA:1872
HP:0001105	Retinal atrophy	9094	UNC119	ORPHA:1872
HP:0001105	Retinal atrophy	93589	CACNA2D4	ORPHA:1872
HP:0001105	Retinal atrophy	2978	GUCA1A	ORPHA:1872
HP:0001105	Retinal atrophy	282809	POC1B	ORPHA:1872
HP:0001105	Retinal atrophy	83394	PITPNM3	ORPHA:1872
HP:0001105	Retinal atrophy	23093	TTLL5	ORPHA:1872
HP:0001105	Retinal atrophy	83723	TLCD3B	ORPHA:1872
HP:0001105	Retinal atrophy	23746	AIPL1	ORPHA:1872
HP:0001105	Retinal atrophy	9364	RAB28	ORPHA:1872
HP:0001105	Retinal atrophy	7078	TIMP3	ORPHA:59181
HP:0001105	Retinal atrophy	56623	INPP5E	ORPHA:75858
HP:0001105	Retinal atrophy	51095	TRNT1	OMIM:616959
HP:0001105	Retinal atrophy	760	CA2	ORPHA:2785
HP:0001105	Retinal atrophy	29954	POMT2	OMIM:236670
HP:0001105	Retinal atrophy	79147	FKRP	OMIM:236670
HP:0001105	Retinal atrophy	2218	FKTN	OMIM:236670
HP:0001105	Retinal atrophy	10585	POMT1	OMIM:236670
HP:0001105	Retinal atrophy	9215	LARGE1	OMIM:236670
HP:0001105	Retinal atrophy	2202	EFEMP1	ORPHA:75376
HP:0001105	Retinal atrophy	3075	CFH	ORPHA:75376
HP:0001105	Retinal atrophy	3426	CFI	ORPHA:75376
HP:0001105	Retinal atrophy	54585	LZTFL1	OMIM:615994
HP:0001105	Retinal atrophy	10733	PLK4	OMIM:616171
HP:0001105	Retinal atrophy	114902	C1QTNF5	ORPHA:67042
HP:0001105	Retinal atrophy	2629	GBA1	OMIM:230800
HP:0001105	Retinal atrophy	3098	HK1	OMIM:617460
HP:0001105	Retinal atrophy	169522	KCNV2	OMIM:610356
HP:0001105	Retinal atrophy	6785	ELOVL4	OMIM:600110
HP:0001105	Retinal atrophy	57724	EPG5	OMIM:242840
HP:0001105	Retinal atrophy	7867	MAPKAPK3	OMIM:617111
HP:0001105	Retinal atrophy	8565	YARS1	OMIM:619418
HP:0001105	Retinal atrophy	57728	WDR19	OMIM:616307
HP:0001105	Retinal atrophy	9187	SLC24A1	OMIM:613830
HP:0001105	Retinal atrophy	26504	CNNM4	OMIM:217080
HP:0001105	Retinal atrophy	6533	SLC6A6	OMIM:145350
HP:0001105	Retinal atrophy	344658	SAMD7	OMIM:620762
HP:0001105	Retinal atrophy	4990	SIX6	OMIM:212550
HP:0001105	Retinal atrophy	1001	CDH3	OMIM:601553
HP:0001105	Retinal atrophy	129880	BBS5	OMIM:615983
HP:0001105	Retinal atrophy	7840	ALMS1	ORPHA:64
HP:0001105	Retinal atrophy	5146	PDE6C	ORPHA:49382
HP:0001105	Retinal atrophy	5149	PDE6H	ORPHA:49382
HP:0001105	Retinal atrophy	2780	GNAT2	ORPHA:49382
HP:0001105	Retinal atrophy	54714	CNGB3	ORPHA:49382
HP:0001105	Retinal atrophy	54714	CNGB3	ORPHA:827
HP:0001105	Retinal atrophy	112752	IFT43	OMIM:617871
HP:0001105	Retinal atrophy	285440	CYP4V2	ORPHA:41751
HP:0001105	Retinal atrophy	51109	RDH11	OMIM:616108
HP:0001105	Retinal atrophy	224	ALDH3A2	OMIM:270200
HP:0001105	Retinal atrophy	10908	PNPLA6	OMIM:215470
HP:0001105	Retinal atrophy	167691	LCA5	ORPHA:364055
HP:0001105	Retinal atrophy	83552	MFRP	OMIM:611040
HP:0001105	Retinal atrophy	1462	VCAN	OMIM:143200
HP:0001105	Retinal atrophy	348	APOE	OMIM:603075
HP:0001105	Retinal atrophy	10878	CFHR3	OMIM:603075
HP:0001105	Retinal atrophy	83872	HMCN1	OMIM:603075
HP:0001105	Retinal atrophy	3078	CFHR1	OMIM:603075
HP:0001105	Retinal atrophy	4982	TNFRSF11B	OMIM:239000
HP:0001105	Retinal atrophy	3105	HLA-A	ORPHA:179
HP:0001105	Retinal atrophy	6452	SH3BP2	OMIM:118400
HP:0001105	Retinal atrophy	5950	RBP4	OMIM:615147
HP:0001106	Periorbital hyperpigmentation	128178	EDARADD	OMIM:224900
HP:0001106	Periorbital hyperpigmentation	10913	EDAR	OMIM:224900
HP:0001106	Periorbital hyperpigmentation	1896	EDA	OMIM:305100
HP:0001106	Periorbital hyperpigmentation	56992	KIF15	ORPHA:261323
HP:0001107	Ocular albinism	63915	BLOC1S5	OMIM:619172
HP:0001107	Ocular albinism	57724	EPG5	OMIM:242840
HP:0001107	Ocular albinism	8943	AP3D1	OMIM:617050
HP:0001107	Ocular albinism	8943	AP3D1	ORPHA:1000
HP:0001107	Ocular albinism	8943	AP3D1	ORPHA:54
HP:0001107	Ocular albinism	7299	TYR	OMIM:203100
HP:0001107	Ocular albinism	7299	TYR	ORPHA:79431
HP:0001107	Ocular albinism	3257	HPS1	OMIM:203300
HP:0001107	Ocular albinism	5590	PRKCZ	ORPHA:1606
HP:0001107	Ocular albinism	2563	GABRD	ORPHA:1606
HP:0001107	Ocular albinism	23013	SPEN	ORPHA:1606
HP:0001107	Ocular albinism	8510	MMP23B	ORPHA:1606
HP:0001107	Ocular albinism	7798	LUZP1	ORPHA:1606
HP:0001107	Ocular albinism	6497	SKI	ORPHA:1606
HP:0001107	Ocular albinism	10630	PDPN	ORPHA:1606
HP:0001107	Ocular albinism	3339	HSPG2	ORPHA:1606
HP:0001107	Ocular albinism	10277	UBE4B	ORPHA:1606
HP:0001107	Ocular albinism	8514	KCNAB2	ORPHA:1606
HP:0001107	Ocular albinism	473	RERE	ORPHA:1606
HP:0001107	Ocular albinism	63976	PRDM16	ORPHA:1606
HP:0001107	Ocular albinism	54897	CASZ1	ORPHA:1606
HP:0001107	Ocular albinism	8546	AP3B1	OMIM:608233
HP:0001107	Ocular albinism	1130	LYST	ORPHA:352723
HP:0001107	Ocular albinism	1130	LYST	OMIM:214500
HP:0001107	Ocular albinism	4935	GPR143	ORPHA:54
HP:0001107	Ocular albinism	4935	GPR143	OMIM:300500
HP:0001107	Ocular albinism	89781	HPS4	OMIM:614073
HP:0001107	Ocular albinism	11234	HPS5	OMIM:614074
HP:0001107	Ocular albinism	26258	BLOC1S6	OMIM:614171
HP:0001107	Ocular albinism	388552	BLOC1S3	OMIM:614077
HP:0001107	Ocular albinism	79803	HPS6	OMIM:614075
HP:0001107	Ocular albinism	84062	DTNBP1	OMIM:614076
HP:0001107	Ocular albinism	6663	SOX10	OMIM:611584
HP:0001107	Ocular albinism	51151	SLC45A2	ORPHA:79435
HP:0000519	Developmental cataract	2074	ERCC6	OMIM:133540
HP:0000519	Developmental cataract	2074	ERCC6	ORPHA:90322
HP:0000519	Developmental cataract	9361	LONP1	OMIM:600373
HP:0000519	Developmental cataract	64374	SIL1	OMIM:248800
HP:0000519	Developmental cataract	1409	CRYAA	OMIM:604219
HP:0000519	Developmental cataract	27183	VPS4A	OMIM:619273
HP:0000519	Developmental cataract	406987	MIR204	OMIM:616722
HP:0000519	Developmental cataract	55654	TMEM127	OMIM:171300
HP:0000519	Developmental cataract	4149	MAX	OMIM:171300
HP:0000519	Developmental cataract	5979	RET	OMIM:171300
HP:0000519	Developmental cataract	7428	VHL	OMIM:171300
HP:0000519	Developmental cataract	652	BMP4	ORPHA:828
HP:0000519	Developmental cataract	5832	ALDH18A1	OMIM:616603
HP:0000519	Developmental cataract	5832	ALDH18A1	ORPHA:90348
HP:0000519	Developmental cataract	5832	ALDH18A1	ORPHA:447757
HP:0000519	Developmental cataract	5832	ALDH18A1	ORPHA:447753
HP:0000519	Developmental cataract	79903	NAA60	OMIM:620786
HP:0000519	Developmental cataract	5309	PITX3	OMIM:610623
HP:0000519	Developmental cataract	4693	NDP	ORPHA:91495
HP:0000519	Developmental cataract	220202	ATOH7	ORPHA:91495
HP:0000519	Developmental cataract	8322	FZD4	ORPHA:91495
HP:0000519	Developmental cataract	2671	GFER	ORPHA:330054
HP:0000519	Developmental cataract	2671	GFER	OMIM:613076
HP:0000519	Developmental cataract	1417	CRYBB3	OMIM:609741
HP:0000519	Developmental cataract	1161	ERCC8	ORPHA:90322
HP:0000519	Developmental cataract	2067	ERCC1	ORPHA:90322
HP:0000519	Developmental cataract	10093	ARPC4	OMIM:620141
HP:0000519	Developmental cataract	1411	CRYBA1	OMIM:600881
HP:0000519	Developmental cataract	1421	CRYGD	OMIM:115700
HP:0000519	Developmental cataract	9150	CTDP1	OMIM:604168
HP:0000519	Developmental cataract	23094	SIPA1L3	OMIM:616851
HP:0000519	Developmental cataract	25782	RAB3GAP2	OMIM:212720
HP:0000519	Developmental cataract	25782	RAB3GAP2	OMIM:614225
HP:0000519	Developmental cataract	1287	COL4A5	OMIM:301050
HP:0000519	Developmental cataract	2068	ERCC2	OMIM:610756
HP:0000519	Developmental cataract	2068	ERCC2	ORPHA:33364
HP:0000519	Developmental cataract	10073	SNUPN	OMIM:620793
HP:0000519	Developmental cataract	3417	IDH1	ORPHA:99646
HP:0000519	Developmental cataract	87178	PNPT1	ORPHA:319514
HP:0000519	Developmental cataract	4574	MT-TS1	OMIM:540000
HP:0000519	Developmental cataract	4575	MT-TS2	OMIM:540000
HP:0000519	Developmental cataract	4535	MT-ND1	OMIM:540000
HP:0000519	Developmental cataract	4567	MT-TL1	OMIM:540000
HP:0000519	Developmental cataract	4512	MT-CO1	OMIM:540000
HP:0000519	Developmental cataract	4513	MT-CO2	OMIM:540000
HP:0000519	Developmental cataract	4514	MT-CO3	OMIM:540000
HP:0000519	Developmental cataract	4519	MT-CYB	OMIM:540000
HP:0000519	Developmental cataract	4511	MT-TC	OMIM:540000
HP:0000519	Developmental cataract	4572	MT-TQ	OMIM:540000
HP:0000519	Developmental cataract	4577	MT-TV	OMIM:540000
HP:0000519	Developmental cataract	4578	MT-TW	OMIM:540000
HP:0000519	Developmental cataract	4558	MT-TF	OMIM:540000
HP:0000519	Developmental cataract	4566	MT-TK	OMIM:540000
HP:0000519	Developmental cataract	4540	MT-ND5	OMIM:540000
HP:0000519	Developmental cataract	4541	MT-ND6	OMIM:540000
HP:0000519	Developmental cataract	4810	NHS	OMIM:302350
HP:0000519	Developmental cataract	57589	RIC1	OMIM:618761
HP:0000519	Developmental cataract	22930	RAB3GAP1	OMIM:600118
HP:0000519	Developmental cataract	22930	RAB3GAP1	OMIM:619420
HP:0000519	Developmental cataract	284058	KANSL1	ORPHA:363958
HP:0000519	Developmental cataract	284058	KANSL1	ORPHA:363965
HP:0000519	Developmental cataract	23511	NUP188	OMIM:618804
HP:0000519	Developmental cataract	81857	MED25	ORPHA:464738
HP:0000519	Developmental cataract	55699	IARS2	ORPHA:436174
HP:0000519	Developmental cataract	4047	LSS	OMIM:616509
HP:0000519	Developmental cataract	55750	AGK	OMIM:212350
HP:0000519	Developmental cataract	55750	AGK	OMIM:614691
HP:0000519	Developmental cataract	5191	PEX7	OMIM:215100
HP:0000519	Developmental cataract	20	ABCA2	OMIM:618808
HP:0000519	Developmental cataract	3339	HSPG2	ORPHA:1865
HP:0000519	Developmental cataract	1420	CRYGC	OMIM:604307
HP:0000519	Developmental cataract	857	CAV1	OMIM:606721
HP:0000519	Developmental cataract	7086	TKT	OMIM:617044
HP:0000519	Developmental cataract	22872	SEC31A	OMIM:618651
HP:0000519	Developmental cataract	128637	TBC1D20	OMIM:615663
HP:0000519	Developmental cataract	1410	CRYAB	OMIM:613763
HP:0000519	Developmental cataract	55210	ATAD3A	OMIM:618810
HP:0000519	Developmental cataract	55210	ATAD3A	OMIM:617183
HP:0000519	Developmental cataract	84668	HYCC1	OMIM:610532
HP:0000519	Developmental cataract	84668	HYCC1	ORPHA:85163
HP:0000519	Developmental cataract	26227	PHGDH	ORPHA:79351
HP:0000519	Developmental cataract	26227	PHGDH	OMIM:601815
HP:0000519	Developmental cataract	4000	LMNA	ORPHA:79474
HP:0000519	Developmental cataract	57572	DOCK6	OMIM:614219
HP:0000519	Developmental cataract	4758	NEU1	ORPHA:93400
HP:0000519	Developmental cataract	1798	DPAGT1	ORPHA:86309
HP:0000519	Developmental cataract	1415	CRYBB2	OMIM:601547
HP:0000519	Developmental cataract	1969	EPHA2	OMIM:116600
HP:0000519	Developmental cataract	5702	PSMC3	OMIM:619354
HP:0000519	Developmental cataract	22931	RAB18	OMIM:614222
HP:0000519	Developmental cataract	9401	RECQL4	ORPHA:221016
HP:0000519	Developmental cataract	389692	MAFA	OMIM:147630
HP:0000519	Developmental cataract	9894	TELO2	ORPHA:488642
HP:0000519	Developmental cataract	8419	BFSP2	OMIM:611597
HP:0000519	Developmental cataract	1282	COL4A1	OMIM:175780
HP:0000519	Developmental cataract	4952	OCRL	OMIM:309000
HP:0000519	Developmental cataract	84992	PIGY	OMIM:616809
HP:0000519	Developmental cataract	23137	SMC5	OMIM:620185
HP:0000519	Developmental cataract	80781	COL18A1	OMIM:267750
HP:0000519	Developmental cataract	1412	CRYBA2	OMIM:115900
HP:0000519	Developmental cataract	284252	KCTD1	OMIM:181270
HP:0000519	Developmental cataract	54880	BCOR	OMIM:300166
HP:0000519	Developmental cataract	79813	EHMT1	ORPHA:261652
HP:0000519	Developmental cataract	58508	KMT2C	ORPHA:261652
HP:0000519	Developmental cataract	4094	MAF	ORPHA:1272
HP:0000519	Developmental cataract	4094	MAF	OMIM:601088
HP:0000519	Developmental cataract	953	ENTPD1	OMIM:615683
HP:0000519	Developmental cataract	57724	EPG5	OMIM:242840
HP:0000519	Developmental cataract	2651	GCNT2	OMIM:116700
HP:0000519	Developmental cataract	3739	KCNA4	OMIM:618284
HP:0000519	Developmental cataract	9197	SLC33A1	OMIM:614482
HP:0000519	Developmental cataract	9215	LARGE1	OMIM:613154
HP:0000519	Developmental cataract	5286	PIK3C2A	OMIM:618440
HP:0000519	Developmental cataract	5286	PIK3C2A	ORPHA:557003
HP:0000519	Developmental cataract	10585	POMT1	OMIM:613155
HP:0000519	Developmental cataract	2006	ELN	ORPHA:90348
HP:0000519	Developmental cataract	10516	FBLN5	ORPHA:90348
HP:0000519	Developmental cataract	8799	PEX11B	OMIM:614920
HP:0000519	Developmental cataract	63901	FAM111A	OMIM:127000
HP:0000519	Developmental cataract	63901	FAM111A	ORPHA:93325
HP:0000519	Developmental cataract	404672	GTF2H5	ORPHA:33364
HP:0000519	Developmental cataract	404672	GTF2H5	OMIM:616395
HP:0000519	Developmental cataract	833	CARS1	ORPHA:33364
HP:0000519	Developmental cataract	7737	RNF113A	ORPHA:33364
HP:0000519	Developmental cataract	136647	MPLKIP	ORPHA:33364
HP:0000519	Developmental cataract	6897	TARS1	ORPHA:33364
HP:0000519	Developmental cataract	16	AARS1	ORPHA:33364
HP:0000519	Developmental cataract	2071	ERCC3	ORPHA:33364
HP:0000519	Developmental cataract	2961	GTF2E2	ORPHA:33364
HP:0000519	Developmental cataract	3166	HMX1	OMIM:612109
HP:0000519	Developmental cataract	5080	PAX6	OMIM:604229
HP:0000519	Developmental cataract	6138	RPL15	ORPHA:124
HP:0000519	Developmental cataract	6224	RPS20	ORPHA:124
HP:0000519	Developmental cataract	6165	RPL35A	ORPHA:124
HP:0000519	Developmental cataract	6132	RPL8	ORPHA:124
HP:0000519	Developmental cataract	6223	RPS19	ORPHA:124
HP:0000519	Developmental cataract	6232	RPS27	ORPHA:124
HP:0000519	Developmental cataract	55027	HEATR3	ORPHA:124
HP:0000519	Developmental cataract	6160	RPL31	ORPHA:124
HP:0000519	Developmental cataract	6201	RPS7	ORPHA:124
HP:0000519	Developmental cataract	6155	RPL27	ORPHA:124
HP:0000519	Developmental cataract	6234	RPS28	ORPHA:124
HP:0000519	Developmental cataract	6135	RPL11	ORPHA:124
HP:0000519	Developmental cataract	6229	RPS24	ORPHA:124
HP:0000519	Developmental cataract	6125	RPL5	ORPHA:124
HP:0000519	Developmental cataract	6204	RPS10	ORPHA:124
HP:0000519	Developmental cataract	2623	GATA1	ORPHA:124
HP:0000519	Developmental cataract	6133	RPL9	ORPHA:124
HP:0000519	Developmental cataract	6231	RPS26	ORPHA:124
HP:0000519	Developmental cataract	11224	RPL35	ORPHA:124
HP:0000519	Developmental cataract	6218	RPS17	ORPHA:124
HP:0000519	Developmental cataract	6154	RPL26	ORPHA:124
HP:0000519	Developmental cataract	6210	RPS15A	ORPHA:124
HP:0000519	Developmental cataract	90121	TSR2	ORPHA:124
HP:0000519	Developmental cataract	6141	RPL18	ORPHA:124
HP:0000519	Developmental cataract	6235	RPS29	ORPHA:124
HP:0000519	Developmental cataract	51816	ADA2	ORPHA:124
HP:0000519	Developmental cataract	1419	CRYGB	OMIM:615188
HP:0000519	Developmental cataract	7319	UBE2A	ORPHA:163956
HP:0000519	Developmental cataract	6307	MSMO1	OMIM:616834
HP:0000519	Developmental cataract	7439	BEST1	OMIM:193220
HP:0000519	Developmental cataract	1414	CRYBB1	OMIM:611544
HP:0000519	Developmental cataract	5830	PEX5	OMIM:616716
HP:0000519	Developmental cataract	2110	ETFDH	OMIM:231680
HP:0000519	Developmental cataract	2108	ETFA	OMIM:231680
HP:0000519	Developmental cataract	2109	ETFB	OMIM:231680
HP:0000519	Developmental cataract	84181	CHD6	ORPHA:2108
HP:0000519	Developmental cataract	64682	ANAPC1	ORPHA:221008
HP:0009921	Duane anomaly	57167	SALL4	ORPHA:233
HP:0009921	Duane anomaly	57167	SALL4	OMIM:607323
HP:0009921	Duane anomaly	9935	MAFB	ORPHA:233
HP:0009921	Duane anomaly	9935	MAFB	OMIM:617041
HP:0009921	Duane anomaly	1123	CHN1	ORPHA:233
HP:0009921	Duane anomaly	1123	CHN1	OMIM:604356
HP:0009921	Duane anomaly	10059	DNM1L	ORPHA:98673
HP:0009921	Duane anomaly	4976	OPA1	ORPHA:98673
HP:0009921	Duane anomaly	170302	ARX	OMIM:300215
HP:0009921	Duane anomaly	57007	ACKR3	OMIM:619215
HP:0009921	Duane anomaly	25885	POLR1A	OMIM:616462
HP:0009921	Duane anomaly	80204	FBXO11	OMIM:618089
HP:0009921	Duane anomaly	92002	CCNQ	OMIM:300707
HP:0009921	Duane anomaly	10054	UBA2	OMIM:619959
HP:0009921	Duane anomaly	9969	MED13	OMIM:618009
HP:0009921	Duane anomaly	63895	PIEZO2	OMIM:108145
HP:0009921	Duane anomaly	79848	CSPP1	ORPHA:397715
HP:0009921	Duane anomaly	9786	KIAA0586	ORPHA:397715
HP:0009921	Duane anomaly	6299	SALL1	OMIM:107480
HP:0009921	Duane anomaly	3198	HOXA1	OMIM:601536
HP:0009921	Duane anomaly	4330	MN1	OMIM:618774
HP:0009921	Duane anomaly	153241	CEP120	OMIM:617761
HP:0009921	Duane anomaly	64221	ROBO3	ORPHA:2744
HP:0009921	Duane anomaly	1630	DCC	ORPHA:2744
HP:0009921	Duane anomaly	2703	GJA8	OMIM:612474
HP:0009921	Duane anomaly	2702	GJA5	OMIM:612474
HP:0009921	Duane anomaly	57178	ZMIZ1	OMIM:618659
HP:0009921	Duane anomaly	84570	COL25A1	OMIM:616219
HP:0009921	Duane anomaly	3781	KCNN2	OMIM:619724
HP:0009921	Duane anomaly	26012	NSMF	OMIM:614838
HP:0011166	Focal myoclonic seizure	154881	KCTD7	ORPHA:263516
HP:0011166	Focal myoclonic seizure	2137	EXTL3	ORPHA:508533
HP:0011166	Focal myoclonic seizure	57531	HACE1	ORPHA:464282
HP:0011166	Focal myoclonic seizure	8943	AP3D1	OMIM:617050
HP:0011166	Focal myoclonic seizure	776	CACNA1D	ORPHA:369929
HP:0011166	Focal myoclonic seizure	2752	GLUL	OMIM:620806
HP:0011166	Focal myoclonic seizure	6389	SDHA	ORPHA:3208
HP:0011166	Focal myoclonic seizure	6390	SDHB	ORPHA:3208
HP:0011166	Focal myoclonic seizure	6392	SDHD	ORPHA:3208
HP:0011166	Focal myoclonic seizure	644096	SDHAF1	ORPHA:3208
HP:0011166	Focal myoclonic seizure	6304	SATB1	OMIM:619229
HP:0011166	Focal myoclonic seizure	29920	PYCR2	ORPHA:481152
HP:0011166	Focal myoclonic seizure	2903	GRIN2A	ORPHA:98818
HP:0011166	Focal myoclonic seizure	5428	POLG	OMIM:203700
HP:0011166	Focal myoclonic seizure	5457	POU4F1	ORPHA:314647
HP:0011166	Focal myoclonic seizure	23261	CAMTA1	ORPHA:314647
HP:0011166	Focal myoclonic seizure	501	ALDH7A1	ORPHA:3006
HP:0011166	Focal myoclonic seizure	11212	PLPBP	ORPHA:3006
HP:0011166	Focal myoclonic seizure	5277	PIGA	OMIM:300868
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	10479	SLC9A6	OMIM:300243
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	114327	EFHC1	ORPHA:307
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	2563	GABRD	ORPHA:307
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1181	CLCN2	ORPHA:307
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	2554	GABRA1	ORPHA:307
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	2554	GABRA1	ORPHA:33069
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	3786	KCNQ3	ORPHA:307
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	22858	CILK1	ORPHA:307
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	8629	JRK	ORPHA:307
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	785	CACNB4	ORPHA:307
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	6335	SCN9A	ORPHA:33069
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	6326	SCN2A	ORPHA:33069
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	6324	SCN1B	ORPHA:33069
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	2566	GABRG2	ORPHA:33069
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	7337	UBE3A	ORPHA:98795
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	427	ASAH1	ORPHA:2590
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	4677	NARS1	OMIM:619091
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	4677	NARS1	OMIM:619092
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	26235	FBXL4	OMIM:615471
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1351	COX8A	OMIM:619059
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	2629	GBA1	ORPHA:2072
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	149371	EXOC8	OMIM:619076
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	23126	POGZ	OMIM:616364
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	57282	SLC4A10	OMIM:620746
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	55275	VPS53	OMIM:615851
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	10815	CPLX1	ORPHA:352582
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	57465	TBC1D24	ORPHA:352582
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	3778	KCNMA1	OMIM:609446
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	6513	SLC2A1	ORPHA:1942
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	8831	SYNGAP1	ORPHA:1942
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1173	AP2M1	ORPHA:1942
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	6323	SCN1A	ORPHA:1942
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	340533	NEXMIF	ORPHA:1942
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1106	CHD2	ORPHA:1942
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	6529	SLC6A1	ORPHA:1942
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	9289	ADGRG1	ORPHA:101070
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	5728	PTEN	ORPHA:101070
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	57526	PCDH19	OMIM:300088
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	2571	GAD1	OMIM:619124
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	51075	TMX2	OMIM:618730
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	84274	COQ5	OMIM:619028
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	5833	PCYT2	OMIM:618770
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	3658	IREB2	OMIM:618451
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	283989	TSEN54	ORPHA:2524
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	116461	TSEN15	ORPHA:2524
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	79042	TSEN34	ORPHA:2524
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	80746	TSEN2	ORPHA:2524
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	51091	SEPSECS	ORPHA:2524
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	83479	DDX59	OMIM:174300
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	140679	SLC32A1	OMIM:620755
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	10664	CTCF	OMIM:615502
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	23031	MAST3	OMIM:620115
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	2903	GRIN2A	ORPHA:98818
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	2558	GABRA5	OMIM:618559
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	78987	CRELD1	OMIM:620771
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	5813	PURA	ORPHA:314655
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	26047	CNTNAP2	OMIM:610042
HP:0025193	Posterolateral diaphragmatic hernia	8425	LTBP4	OMIM:613177
HP:0025193	Posterolateral diaphragmatic hernia	7490	WT1	OMIM:194080
HP:0025193	Posterolateral diaphragmatic hernia	2202	EFEMP1	OMIM:620780
HP:0025194	Morgagni diaphragmatic hernia	8425	LTBP4	OMIM:613177
HP:0025194	Morgagni diaphragmatic hernia	6231	RPS26	OMIM:613309
HP:0025195	Central diaphragmatic hernia	8493	PPM1D	OMIM:617450
HP:0025195	Central diaphragmatic hernia	6598	SMARCB1	OMIM:614608
HP:0025196	Increased total iron binding capacity	9493	KIF23	ORPHA:98870
HP:0025196	Increased total iron binding capacity	29127	RACGAP1	ORPHA:98870
HP:0025196	Increased total iron binding capacity	55532	SLC30A10	OMIM:613280
HP:0025196	Increased total iron binding capacity	55532	SLC30A10	ORPHA:309854
HP:0025196	Increased total iron binding capacity	5825	ABCD3	OMIM:616278
HP:0025197	Inclusion body fibromatosis	2316	FLNA	ORPHA:88630
HP:0007587	Numerous pigmented freckles	2072	ERCC4	OMIM:278760
HP:0007587	Numerous pigmented freckles	2072	ERCC4	ORPHA:220295
HP:0007587	Numerous pigmented freckles	2068	ERCC2	ORPHA:220295
HP:0007587	Numerous pigmented freckles	2068	ERCC2	ORPHA:33364
HP:0007587	Numerous pigmented freckles	2073	ERCC5	ORPHA:220295
HP:0007587	Numerous pigmented freckles	2071	ERCC3	ORPHA:220295
HP:0007587	Numerous pigmented freckles	2071	ERCC3	ORPHA:33364
HP:0007587	Numerous pigmented freckles	404672	GTF2H5	ORPHA:33364
HP:0007587	Numerous pigmented freckles	833	CARS1	ORPHA:33364
HP:0007587	Numerous pigmented freckles	7737	RNF113A	ORPHA:33364
HP:0007587	Numerous pigmented freckles	136647	MPLKIP	ORPHA:33364
HP:0007587	Numerous pigmented freckles	6897	TARS1	ORPHA:33364
HP:0007587	Numerous pigmented freckles	16	AARS1	ORPHA:33364
HP:0007587	Numerous pigmented freckles	2961	GTF2E2	ORPHA:33364
HP:0007587	Numerous pigmented freckles	4286	MITF	OMIM:193510
HP:0007588	Reticular hyperpigmentation	4358	MPV17	OMIM:256810
HP:0007588	Reticular hyperpigmentation	64840	PORCN	OMIM:305600
HP:0007588	Reticular hyperpigmentation	3861	KRT14	OMIM:161000
HP:0007588	Reticular hyperpigmentation	3861	KRT14	OMIM:125595
HP:0007588	Reticular hyperpigmentation	6117	RPA1	OMIM:619767
HP:0007588	Reticular hyperpigmentation	5422	POLA1	OMIM:301220
HP:0007588	Reticular hyperpigmentation	23509	POFUT1	OMIM:615327
HP:0007588	Reticular hyperpigmentation	26277	TINF2	OMIM:127550
HP:0007588	Reticular hyperpigmentation	7012	TERC	OMIM:127550
HP:0007588	Reticular hyperpigmentation	7015	TERT	OMIM:127550
HP:0007588	Reticular hyperpigmentation	7157	TP53	OMIM:618165
HP:0007588	Reticular hyperpigmentation	79650	USB1	OMIM:604173
HP:0007588	Reticular hyperpigmentation	55505	NOP10	OMIM:224230
HP:0007588	Reticular hyperpigmentation	55651	NHP2	OMIM:224230
HP:0007589	Aplasia cutis congenita on trunk or limbs	3655	ITGA6	OMIM:619817
HP:0007589	Aplasia cutis congenita on trunk or limbs	57514	ARHGAP31	OMIM:100300
HP:0007589	Aplasia cutis congenita on trunk or limbs	3852	KRT5	ORPHA:79396
HP:0007589	Aplasia cutis congenita on trunk or limbs	3861	KRT14	ORPHA:79396
HP:0007589	Aplasia cutis congenita on trunk or limbs	3861	KRT14	ORPHA:89838
HP:0007589	Aplasia cutis congenita on trunk or limbs	3691	ITGB4	OMIM:226730
HP:0007589	Aplasia cutis congenita on trunk or limbs	3691	ITGB4	ORPHA:158684
HP:0007589	Aplasia cutis congenita on trunk or limbs	5339	PLEC	OMIM:226730
HP:0007589	Aplasia cutis congenita on trunk or limbs	5339	PLEC	ORPHA:158684
HP:0007572	Hyperpigmented streaks	3845	KRAS	OMIM:600268
HP:0007572	Hyperpigmented streaks	54539	NDUFB11	OMIM:300952
HP:0007574	Generalized bronze hyperpigmentation	1583	CYP11A1	ORPHA:289548
HP:0007574	Generalized bronze hyperpigmentation	1583	CYP11A1	ORPHA:168558
HP:0007574	Generalized bronze hyperpigmentation	654	BMP6	ORPHA:465508
HP:0007574	Generalized bronze hyperpigmentation	3077	HFE	ORPHA:465508
HP:0000545	Myopia	875	CBS	ORPHA:394
HP:0000545	Myopia	875	CBS	OMIM:236200
HP:0000545	Myopia	2218	FKTN	ORPHA:272
HP:0000545	Myopia	2218	FKTN	ORPHA:588
HP:0000545	Myopia	2218	FKTN	OMIM:236670
HP:0000545	Myopia	2218	FKTN	OMIM:253800
HP:0000545	Myopia	8036	SHOC2	OMIM:607721
HP:0000545	Myopia	55703	POLR3B	OMIM:614381
HP:0000545	Myopia	55703	POLR3B	OMIM:607694
HP:0000545	Myopia	51256	TBC1D7	OMIM:248000
HP:0000545	Myopia	8518	ELP1	ORPHA:1764
HP:0000545	Myopia	1024	CDK8	OMIM:618748
HP:0000545	Myopia	60684	TRAPPC11	OMIM:615356
HP:0000545	Myopia	60684	TRAPPC11	ORPHA:369847
HP:0000545	Myopia	7299	TYR	OMIM:203100
HP:0000545	Myopia	10973	ASCC3	OMIM:620700
HP:0000545	Myopia	51	ACOX1	ORPHA:2971
HP:0000545	Myopia	55209	SETD5	ORPHA:404440
HP:0000545	Myopia	55209	SETD5	OMIM:615761
HP:0000545	Myopia	3190	HNRNPK	ORPHA:453504
HP:0000545	Myopia	3190	HNRNPK	ORPHA:352665
HP:0000545	Myopia	79848	CSPP1	ORPHA:397715
HP:0000545	Myopia	9786	KIAA0586	ORPHA:397715
HP:0000545	Myopia	4125	MAN2B1	ORPHA:309282
HP:0000545	Myopia	4125	MAN2B1	ORPHA:309288
HP:0000545	Myopia	57165	GJC2	OMIM:608804
HP:0000545	Myopia	4653	MYOC	OMIM:137750
HP:0000545	Myopia	4653	MYOC	ORPHA:98976
HP:0000545	Myopia	116931	MED12L	OMIM:618872
HP:0000545	Myopia	10730	YME1L1	OMIM:617302
HP:0000545	Myopia	55690	PACS1	OMIM:615009
HP:0000545	Myopia	2201	FBN2	OMIM:121050
HP:0000545	Myopia	5728	PTEN	ORPHA:2969
HP:0000545	Myopia	5728	PTEN	ORPHA:201
HP:0000545	Myopia	5728	PTEN	OMIM:158350
HP:0000545	Myopia	10686	CLDN16	OMIM:248250
HP:0000545	Myopia	57539	WDR35	ORPHA:1515
HP:0000545	Myopia	112752	IFT43	ORPHA:1515
HP:0000545	Myopia	51098	IFT52	ORPHA:1515
HP:0000545	Myopia	55764	IFT122	ORPHA:1515
HP:0000545	Myopia	55764	IFT122	OMIM:218330
HP:0000545	Myopia	57728	WDR19	ORPHA:1515
HP:0000545	Myopia	57728	WDR19	OMIM:614376
HP:0000545	Myopia	6660	SOX5	ORPHA:313892
HP:0000545	Myopia	6660	SOX5	OMIM:616803
HP:0000545	Myopia	10133	OPTN	OMIM:137760
HP:0000545	Myopia	84572	GNPTG	OMIM:252605
HP:0000545	Myopia	6023	RMRP	ORPHA:175
HP:0000545	Myopia	7345	UCHL1	OMIM:615491
HP:0000545	Myopia	818	CAMK2G	OMIM:618522
HP:0000545	Myopia	113189	CHST14	ORPHA:2953
HP:0000545	Myopia	113189	CHST14	OMIM:601776
HP:0000545	Myopia	29940	DSE	ORPHA:2953
HP:0000545	Myopia	7021	TFAP2B	ORPHA:46627
HP:0000545	Myopia	79797	ZNF408	OMIM:616468
HP:0000545	Myopia	3064	HTT	OMIM:617435
HP:0000545	Myopia	84100	ARL6	OMIM:209900
HP:0000545	Myopia	79140	CCDC28B	OMIM:209900
HP:0000545	Myopia	582	BBS1	OMIM:209900
HP:0000545	Myopia	2697	GJA1	ORPHA:2710
HP:0000545	Myopia	2697	GJA1	OMIM:257850
HP:0000545	Myopia	157680	VPS13B	OMIM:216550
HP:0000545	Myopia	157680	VPS13B	ORPHA:193
HP:0000545	Myopia	7020	TFAP2A	OMIM:113620
HP:0000545	Myopia	9401	RECQL4	OMIM:218600
HP:0000545	Myopia	652	BMP4	OMIM:607932
HP:0000545	Myopia	652	BMP4	ORPHA:828
HP:0000545	Myopia	652	BMP4	ORPHA:139471
HP:0000545	Myopia	8726	EED	OMIM:617561
HP:0000545	Myopia	11107	PRDM5	OMIM:614170
HP:0000545	Myopia	5528	PPP2R5D	OMIM:616355
HP:0000545	Myopia	23327	NEDD4L	OMIM:617201
HP:0000545	Myopia	1280	COL2A1	ORPHA:90653
HP:0000545	Myopia	1280	COL2A1	ORPHA:1856
HP:0000545	Myopia	1280	COL2A1	OMIM:132450
HP:0000545	Myopia	1280	COL2A1	ORPHA:94068
HP:0000545	Myopia	1280	COL2A1	OMIM:156550
HP:0000545	Myopia	1280	COL2A1	OMIM:183900
HP:0000545	Myopia	1280	COL2A1	OMIM:184250
HP:0000545	Myopia	1280	COL2A1	OMIM:108300
HP:0000545	Myopia	1280	COL2A1	ORPHA:93296
HP:0000545	Myopia	1280	COL2A1	OMIM:609508
HP:0000545	Myopia	1280	COL2A1	ORPHA:93315
HP:0000545	Myopia	1280	COL2A1	ORPHA:93316
HP:0000545	Myopia	1280	COL2A1	ORPHA:93346
HP:0000545	Myopia	1301	COL11A1	ORPHA:90654
HP:0000545	Myopia	1301	COL11A1	OMIM:604841
HP:0000545	Myopia	1301	COL11A1	ORPHA:560
HP:0000545	Myopia	1301	COL11A1	OMIM:154780
HP:0000545	Myopia	5813	PURA	ORPHA:438216
HP:0000545	Myopia	64132	XYLT2	ORPHA:85194
HP:0000545	Myopia	89910	UBE3B	ORPHA:2707
HP:0000545	Myopia	89910	UBE3B	OMIM:244450
HP:0000545	Myopia	26834	RNU4-2	OMIM:620851
HP:0000545	Myopia	6103	RPGR	OMIM:304020
HP:0000545	Myopia	6103	RPGR	ORPHA:49382
HP:0000545	Myopia	4053	LTBP2	OMIM:251750
HP:0000545	Myopia	4053	LTBP2	ORPHA:98976
HP:0000545	Myopia	1499	CTNNB1	ORPHA:404473
HP:0000545	Myopia	3981	LIG4	ORPHA:235
HP:0000545	Myopia	54888	NSUN2	ORPHA:235
HP:0000545	Myopia	1969	EPHA2	OMIM:116600
HP:0000545	Myopia	23126	POGZ	OMIM:616364
HP:0000545	Myopia	23126	POGZ	ORPHA:468678
HP:0000545	Myopia	3845	KRAS	OMIM:615278
HP:0000545	Myopia	3845	KRAS	ORPHA:1340
HP:0000545	Myopia	6134	RPL10	ORPHA:459070
HP:0000545	Myopia	7337	UBE3A	OMIM:105830
HP:0000545	Myopia	6638	SNRPN	OMIM:105830
HP:0000545	Myopia	6638	SNRPN	ORPHA:177907
HP:0000545	Myopia	148789	B3GALNT2	ORPHA:588
HP:0000545	Myopia	148789	B3GALNT2	OMIM:615181
HP:0000545	Myopia	29925	GMPPB	ORPHA:588
HP:0000545	Myopia	29925	GMPPB	ORPHA:370968
HP:0000545	Myopia	29925	GMPPB	ORPHA:370959
HP:0000545	Myopia	79147	FKRP	ORPHA:588
HP:0000545	Myopia	79147	FKRP	OMIM:236670
HP:0000545	Myopia	79147	FKRP	ORPHA:370968
HP:0000545	Myopia	79147	FKRP	ORPHA:370959
HP:0000545	Myopia	79147	FKRP	OMIM:613153
HP:0000545	Myopia	9215	LARGE1	ORPHA:588
HP:0000545	Myopia	9215	LARGE1	OMIM:236670
HP:0000545	Myopia	9215	LARGE1	ORPHA:370968
HP:0000545	Myopia	29954	POMT2	ORPHA:588
HP:0000545	Myopia	29954	POMT2	OMIM:236670
HP:0000545	Myopia	29954	POMT2	ORPHA:370968
HP:0000545	Myopia	29954	POMT2	ORPHA:370959
HP:0000545	Myopia	29954	POMT2	OMIM:613150
HP:0000545	Myopia	29954	POMT2	OMIM:613156
HP:0000545	Myopia	729920	CRPPA	ORPHA:588
HP:0000545	Myopia	55624	POMGNT1	ORPHA:588
HP:0000545	Myopia	55624	POMGNT1	ORPHA:370959
HP:0000545	Myopia	55624	POMGNT1	OMIM:253280
HP:0000545	Myopia	55624	POMGNT1	OMIM:613151
HP:0000545	Myopia	10585	POMT1	ORPHA:588
HP:0000545	Myopia	10585	POMT1	OMIM:236670
HP:0000545	Myopia	10585	POMT1	ORPHA:370968
HP:0000545	Myopia	10585	POMT1	ORPHA:370959
HP:0000545	Myopia	10585	POMT1	OMIM:613155
HP:0000545	Myopia	1859	DYRK1A	ORPHA:464311
HP:0000545	Myopia	1859	DYRK1A	ORPHA:268261
HP:0000545	Myopia	55210	ATAD3A	ORPHA:496790
HP:0000545	Myopia	55210	ATAD3A	OMIM:617183
HP:0000545	Myopia	5605	MAP2K2	OMIM:615280
HP:0000545	Myopia	5605	MAP2K2	ORPHA:1340
HP:0000545	Myopia	6101	RP1	OMIM:180100
HP:0000545	Myopia	4644	MYO5A	ORPHA:33445
HP:0000545	Myopia	9533	POLR1C	OMIM:616494
HP:0000545	Myopia	8733	GPAA1	ORPHA:529665
HP:0000545	Myopia	8733	GPAA1	OMIM:617810
HP:0000545	Myopia	388552	BLOC1S3	OMIM:614077
HP:0000545	Myopia	3913	LAMB2	OMIM:614199
HP:0000545	Myopia	6942	TCF20	OMIM:618430
HP:0000545	Myopia	9772	TMEM94	OMIM:618316
HP:0000545	Myopia	6925	TCF4	OMIM:610954
HP:0000545	Myopia	6925	TCF4	ORPHA:2896
HP:0000545	Myopia	2683	B4GALT1	ORPHA:79332
HP:0000545	Myopia	4308	TRPM1	ORPHA:215
HP:0000545	Myopia	4308	TRPM1	OMIM:613216
HP:0000545	Myopia	57010	CABP4	ORPHA:215
HP:0000545	Myopia	345193	LRIT3	ORPHA:215
HP:0000545	Myopia	93589	CACNA2D4	ORPHA:215
HP:0000545	Myopia	2916	GRM6	ORPHA:215
HP:0000545	Myopia	2916	GRM6	OMIM:257270
HP:0000545	Myopia	5158	PDE6B	ORPHA:215
HP:0000545	Myopia	440435	GPR179	ORPHA:215
HP:0000545	Myopia	6011	GRK1	ORPHA:215
HP:0000545	Myopia	6011	GRK1	ORPHA:75382
HP:0000545	Myopia	778	CACNA1F	ORPHA:215
HP:0000545	Myopia	778	CACNA1F	ORPHA:178333
HP:0000545	Myopia	778	CACNA1F	OMIM:300600
HP:0000545	Myopia	778	CACNA1F	OMIM:300476
HP:0000545	Myopia	6010	RHO	ORPHA:215
HP:0000545	Myopia	9187	SLC24A1	ORPHA:215
HP:0000545	Myopia	6295	SAG	ORPHA:215
HP:0000545	Myopia	6295	SAG	ORPHA:75382
HP:0000545	Myopia	2784	GNB3	ORPHA:215
HP:0000545	Myopia	2779	GNAT1	ORPHA:215
HP:0000545	Myopia	60506	NYX	ORPHA:215
HP:0000545	Myopia	57688	ZSWIM6	OMIM:603671
HP:0000545	Myopia	57688	ZSWIM6	ORPHA:1827
HP:0000545	Myopia	124583	CANT1	OMIM:251450
HP:0000545	Myopia	4488	MSX2	OMIM:604757
HP:0000545	Myopia	5373	PMM2	ORPHA:79318
HP:0000545	Myopia	7030	TFE3	OMIM:301066
HP:0000545	Myopia	57479	PRR12	OMIM:619539
HP:0000545	Myopia	7994	KAT6A	OMIM:616268
HP:0000545	Myopia	25836	NIPBL	OMIM:122470
HP:0000545	Myopia	25836	NIPBL	ORPHA:199
HP:0000545	Myopia	9725	TMEM63A	OMIM:618688
HP:0000545	Myopia	404672	GTF2H5	ORPHA:33364
HP:0000545	Myopia	833	CARS1	ORPHA:33364
HP:0000545	Myopia	2068	ERCC2	ORPHA:33364
HP:0000545	Myopia	7737	RNF113A	ORPHA:33364
HP:0000545	Myopia	136647	MPLKIP	ORPHA:33364
HP:0000545	Myopia	6897	TARS1	ORPHA:33364
HP:0000545	Myopia	16	AARS1	ORPHA:33364
HP:0000545	Myopia	2071	ERCC3	ORPHA:33364
HP:0000545	Myopia	2961	GTF2E2	ORPHA:33364
HP:0000545	Myopia	3339	HSPG2	OMIM:255800
HP:0000545	Myopia	3339	HSPG2	ORPHA:800
HP:0000545	Myopia	2200	FBN1	OMIM:184900
HP:0000545	Myopia	2200	FBN1	ORPHA:2462
HP:0000545	Myopia	2200	FBN1	OMIM:129600
HP:0000545	Myopia	2200	FBN1	OMIM:154700
HP:0000545	Myopia	4883	NPR3	OMIM:619543
HP:0000545	Myopia	171546	SPTSSA	OMIM:620417
HP:0000545	Myopia	78987	CRELD1	OMIM:620771
HP:0000545	Myopia	2263	FGFR2	OMIM:101200
HP:0000545	Myopia	3479	IGF1	ORPHA:73272
HP:0000545	Myopia	22827	PUF60	ORPHA:508498
HP:0000545	Myopia	5351	PLOD1	OMIM:225400
HP:0000545	Myopia	5351	PLOD1	ORPHA:1900
HP:0000545	Myopia	30000	TNPO2	OMIM:619556
HP:0000545	Myopia	10765	KDM5B	OMIM:618109
HP:0000545	Myopia	54973	INTS11	OMIM:620428
HP:0000545	Myopia	253738	EBF3	ORPHA:96148
HP:0000545	Myopia	4076	CAPRIN1	OMIM:620782
HP:0000545	Myopia	90459	ERI1	OMIM:620662
HP:0000545	Myopia	100033413	SNORD116-1	OMIM:176270
HP:0000545	Myopia	8924	HERC2	OMIM:176270
HP:0000545	Myopia	23742	NPAP1	OMIM:176270
HP:0000545	Myopia	338433	SNORD115-1	OMIM:176270
HP:0000545	Myopia	54551	MAGEL2	OMIM:176270
HP:0000545	Myopia	54551	MAGEL2	ORPHA:398069
HP:0000545	Myopia	54551	MAGEL2	OMIM:615547
HP:0000545	Myopia	7681	MKRN3	OMIM:176270
HP:0000545	Myopia	145624	PWAR1	OMIM:176270
HP:0000545	Myopia	3653	IPW	OMIM:176270
HP:0000545	Myopia	791114	PWRN1	OMIM:176270
HP:0000545	Myopia	27125	AFF4	ORPHA:444077
HP:0000545	Myopia	55869	HDAC8	OMIM:300882
HP:0000545	Myopia	55869	HDAC8	ORPHA:199
HP:0000545	Myopia	10397	NDRG1	OMIM:601455
HP:0000545	Myopia	9227	LRAT	ORPHA:364055
HP:0000545	Myopia	55812	SPATA7	ORPHA:364055
HP:0000545	Myopia	6121	RPE65	ORPHA:364055
HP:0000545	Myopia	167691	LCA5	ORPHA:364055
HP:0000545	Myopia	1349	COX7B	OMIM:300887
HP:0000545	Myopia	29998	BICRA	OMIM:619325
HP:0000545	Myopia	60509	AGBL5	OMIM:617023
HP:0000545	Myopia	55215	FANCI	OMIM:609053
HP:0000545	Myopia	165829	GPR156	OMIM:620551
HP:0000545	Myopia	9126	SMC3	OMIM:610759
HP:0000545	Myopia	9126	SMC3	ORPHA:199
HP:0000545	Myopia	4942	OAT	ORPHA:414
HP:0000545	Myopia	4942	OAT	OMIM:258870
HP:0000545	Myopia	473	RERE	ORPHA:494344
HP:0000545	Myopia	55777	MBD5	OMIM:156200
HP:0000545	Myopia	4784	NFIX	OMIM:602535
HP:0000545	Myopia	4784	NFIX	ORPHA:447980
HP:0000545	Myopia	56915	EXOSC5	OMIM:619576
HP:0000545	Myopia	9131	AIFM1	OMIM:300614
HP:0000545	Myopia	7275	TUB	OMIM:616188
HP:0000545	Myopia	3756	KCNH1	OMIM:135500
HP:0000545	Myopia	57096	RPGRIP1	OMIM:608194
HP:0000545	Myopia	57096	RPGRIP1	OMIM:613826
HP:0000545	Myopia	6102	RP2	OMIM:312600
HP:0000545	Myopia	23389	MED13L	ORPHA:369891
HP:0000545	Myopia	55750	AGK	OMIM:212350
HP:0000545	Myopia	55750	AGK	ORPHA:1369
HP:0000545	Myopia	10483	SEC23B	ORPHA:201
HP:0000545	Myopia	6390	SDHB	ORPHA:201
HP:0000545	Myopia	6392	SDHD	ORPHA:201
HP:0000545	Myopia	6391	SDHC	ORPHA:201
HP:0000545	Myopia	207	AKT1	ORPHA:201
HP:0000545	Myopia	207	AKT1	ORPHA:744
HP:0000545	Myopia	207	AKT1	OMIM:615109
HP:0000545	Myopia	205717	USF3	ORPHA:201
HP:0000545	Myopia	5290	PIK3CA	ORPHA:201
HP:0000545	Myopia	5290	PIK3CA	OMIM:615108
HP:0000545	Myopia	100144748	KLLN	ORPHA:201
HP:0000545	Myopia	9509	ADAMTS2	OMIM:225410
HP:0000545	Myopia	372	ARCN1	OMIM:617164
HP:0000545	Myopia	2652	OPN1MW	ORPHA:16
HP:0000545	Myopia	2652	OPN1MW	OMIM:303700
HP:0000545	Myopia	5956	OPN1LW	ORPHA:16
HP:0000545	Myopia	5956	OPN1LW	OMIM:303700
HP:0000545	Myopia	54681	P4HTM	OMIM:618493
HP:0000545	Myopia	5277	PIGA	OMIM:300868
HP:0000545	Myopia	4015	LOX	OMIM:617168
HP:0000545	Myopia	26040	SETBP1	OMIM:616078
HP:0000545	Myopia	92949	ADAMTSL1	ORPHA:521445
HP:0000545	Myopia	134218	DNAJC21	OMIM:617052
HP:0000545	Myopia	54539	NDUFB11	OMIM:300952
HP:0000545	Myopia	10847	SRCAP	OMIM:619595
HP:0000545	Myopia	51604	PIGT	ORPHA:369837
HP:0000545	Myopia	145173	B3GLCT	OMIM:261540
HP:0000545	Myopia	1286	COL4A4	OMIM:203780
HP:0000545	Myopia	9094	UNC119	OMIM:620342
HP:0000545	Myopia	526	ATP6V1B2	ORPHA:79500
HP:0000545	Myopia	57465	TBC1D24	ORPHA:79500
HP:0000545	Myopia	1412	CRYBA2	OMIM:115900
HP:0000545	Myopia	283446	MYO1H	OMIM:619482
HP:0000545	Myopia	84197	POMK	ORPHA:370959
HP:0000545	Myopia	22978	NT5C2	ORPHA:320396
HP:0000545	Myopia	22978	NT5C2	OMIM:613162
HP:0000545	Myopia	6872	TAF1	OMIM:300966
HP:0000545	Myopia	8567	MADD	OMIM:619004
HP:0000545	Myopia	4841	NONO	OMIM:300967
HP:0000545	Myopia	4841	NONO	ORPHA:466791
HP:0000545	Myopia	8239	USP9X	OMIM:300968
HP:0000545	Myopia	8239	USP9X	ORPHA:480880
HP:0000545	Myopia	8318	CDC45	OMIM:617063
HP:0000545	Myopia	1289	COL5A1	OMIM:130000
HP:0000545	Myopia	29123	ANKRD11	ORPHA:261250
HP:0000545	Myopia	50485	SMARCAL1	OMIM:242900
HP:0000545	Myopia	6663	SOX10	OMIM:609136
HP:0000545	Myopia	126792	B3GALT6	OMIM:271640
HP:0000545	Myopia	126792	B3GALT6	ORPHA:536467
HP:0000545	Myopia	149461	CLDN19	ORPHA:2196
HP:0000545	Myopia	149461	CLDN19	OMIM:248190
HP:0000545	Myopia	2733	GLE1	OMIM:611890
HP:0000545	Myopia	51594	NBAS	OMIM:614800
HP:0000545	Myopia	4157	MC1R	OMIM:203200
HP:0000545	Myopia	4948	OCA2	OMIM:203200
HP:0000545	Myopia	8799	PEX11B	OMIM:614920
HP:0000545	Myopia	64131	XYLT1	ORPHA:370930
HP:0000545	Myopia	11011	TLK2	OMIM:618050
HP:0000545	Myopia	3030	HADHA	ORPHA:5
HP:0000545	Myopia	129285	PPP1R21	OMIM:619383
HP:0000545	Myopia	23040	MYT1L	ORPHA:647799
HP:0000545	Myopia	84168	ANTXR1	ORPHA:2067
HP:0000545	Myopia	7287	TULP1	OMIM:613843
HP:0000545	Myopia	1462	VCAN	OMIM:143200
HP:0000545	Myopia	9898	UBAP2L	OMIM:620494
HP:0000545	Myopia	23241	PACS2	OMIM:618067
HP:0000545	Myopia	5631	PRPS1	ORPHA:411543
HP:0000545	Myopia	5631	PRPS1	OMIM:300661
HP:0000545	Myopia	673	BRAF	OMIM:115150
HP:0000545	Myopia	673	BRAF	ORPHA:1340
HP:0000545	Myopia	673	BRAF	OMIM:163950
HP:0000545	Myopia	7003	TEAD1	OMIM:108985
HP:0000545	Myopia	118987	PDZD8	OMIM:620021
HP:0000545	Myopia	64324	NSD1	ORPHA:821
HP:0000545	Myopia	64324	NSD1	ORPHA:228415
HP:0000545	Myopia	10297	APC2	ORPHA:821
HP:0000545	Myopia	80232	WDR26	ORPHA:513456
HP:0000545	Myopia	80232	WDR26	OMIM:617616
HP:0000545	Myopia	162	AP1B1	OMIM:242150
HP:0000545	Myopia	1278	COL1A2	ORPHA:230851
HP:0000545	Myopia	224	ALDH3A2	ORPHA:816
HP:0000545	Myopia	2314	FLII	ORPHA:819
HP:0000545	Myopia	23096	IQSEC2	ORPHA:819
HP:0000545	Myopia	10743	RAI1	ORPHA:819
HP:0000545	Myopia	10743	RAI1	OMIM:182290
HP:0000545	Myopia	10522	DEAF1	ORPHA:819
HP:0000545	Myopia	169522	KCNV2	OMIM:610356
HP:0000545	Myopia	6662	SOX9	OMIM:114290
HP:0000545	Myopia	7102	TSPAN7	OMIM:300210
HP:0000545	Myopia	51360	MBTPS2	ORPHA:2273
HP:0000545	Myopia	57492	ARID1B	OMIM:135900
HP:0000545	Myopia	57492	ARID1B	ORPHA:1465
HP:0000545	Myopia	5119	CHMP1A	OMIM:614961
HP:0000545	Myopia	10908	PNPLA6	ORPHA:3363
HP:0000545	Myopia	546	ATRX	ORPHA:847
HP:0000545	Myopia	259232	NALCN	ORPHA:562528
HP:0000545	Myopia	1678	TIMM8A	OMIM:304700
HP:0000545	Myopia	57531	HACE1	ORPHA:464282
HP:0000545	Myopia	57531	HACE1	OMIM:616756
HP:0000545	Myopia	9839	ZEB2	ORPHA:261552
HP:0000545	Myopia	9839	ZEB2	ORPHA:261537
HP:0000545	Myopia	64919	BCL11B	OMIM:618092
HP:0000545	Myopia	6999	TDO2	OMIM:600627
HP:0000545	Myopia	4036	LRP2	ORPHA:2143
HP:0000545	Myopia	4853	NOTCH2	ORPHA:955
HP:0000545	Myopia	165	AEBP1	ORPHA:536532
HP:0000545	Myopia	2743	GLRB	OMIM:614619
HP:0000545	Myopia	2615	LRRC32	OMIM:619074
HP:0000545	Myopia	7025	NR2F1	ORPHA:401777
HP:0000545	Myopia	8419	BFSP2	OMIM:611597
HP:0000545	Myopia	6804	STX1A	ORPHA:904
HP:0000545	Myopia	7461	CLIP2	ORPHA:904
HP:0000545	Myopia	84277	DNAJC30	ORPHA:904
HP:0000545	Myopia	8468	FKBP6	ORPHA:904
HP:0000545	Myopia	5982	RFC2	ORPHA:904
HP:0000545	Myopia	2969	GTF2I	ORPHA:904
HP:0000545	Myopia	3984	LIMK1	ORPHA:904
HP:0000545	Myopia	9569	GTF2IRD1	ORPHA:904
HP:0000545	Myopia	155382	VPS37D	ORPHA:904
HP:0000545	Myopia	155368	METTL27	ORPHA:904
HP:0000545	Myopia	114049	BUD23	ORPHA:904
HP:0000545	Myopia	7458	EIF4H	ORPHA:904
HP:0000545	Myopia	84163	GTF2IRD2	ORPHA:904
HP:0000545	Myopia	26608	TBL2	ORPHA:904
HP:0000545	Myopia	653361	NCF1	ORPHA:904
HP:0000545	Myopia	135886	TMEM270	ORPHA:904
HP:0000545	Myopia	9031	BAZ1B	ORPHA:904
HP:0000545	Myopia	2006	ELN	ORPHA:904
HP:0000545	Myopia	1282	COL4A1	OMIM:175780
HP:0000545	Myopia	81031	SLC2A10	ORPHA:3342
HP:0000545	Myopia	81031	SLC2A10	OMIM:208050
HP:0000545	Myopia	11128	POLR3A	ORPHA:447896
HP:0000545	Myopia	11128	POLR3A	ORPHA:3455
HP:0000545	Myopia	11128	POLR3A	OMIM:607694
HP:0000545	Myopia	1303	COL12A1	ORPHA:536516
HP:0000545	Myopia	368	ABCC6	OMIM:177850
HP:0000545	Myopia	92002	CCNQ	ORPHA:140952
HP:0000545	Myopia	284217	LAMA1	OMIM:615960
HP:0000545	Myopia	284217	LAMA1	ORPHA:370022
HP:0000545	Myopia	23261	CAMTA1	OMIM:614756
HP:0000545	Myopia	182	JAG1	OMIM:118450
HP:0000545	Myopia	5832	ALDH18A1	OMIM:219150
HP:0000545	Myopia	23065	EMC1	ORPHA:480898
HP:0000545	Myopia	23065	EMC1	OMIM:616875
HP:0000545	Myopia	51322	WAC	ORPHA:284169
HP:0000545	Myopia	51322	WAC	OMIM:616708
HP:0000545	Myopia	5295	PIK3R1	OMIM:269880
HP:0000545	Myopia	22926	ATF6	ORPHA:49382
HP:0000545	Myopia	5146	PDE6C	ORPHA:49382
HP:0000545	Myopia	5149	PDE6H	ORPHA:49382
HP:0000545	Myopia	2780	GNAT2	ORPHA:49382
HP:0000545	Myopia	1261	CNGA3	ORPHA:49382
HP:0000545	Myopia	54714	CNGB3	ORPHA:49382
HP:0000545	Myopia	8573	CASK	ORPHA:163937
HP:0000545	Myopia	8242	KDM5C	OMIM:300534
HP:0000545	Myopia	117581	TWIST2	ORPHA:920
HP:0000545	Myopia	8943	AP3D1	ORPHA:54
HP:0000545	Myopia	4935	GPR143	ORPHA:54
HP:0000545	Myopia	171023	ASXL1	OMIM:605039
HP:0000545	Myopia	79228	THOC6	OMIM:613680
HP:0000545	Myopia	2703	GJA8	ORPHA:1377
HP:0000545	Myopia	4094	MAF	ORPHA:1377
HP:0000545	Myopia	1413	CRYBA4	ORPHA:1377
HP:0000545	Myopia	1409	CRYAA	ORPHA:1377
HP:0000545	Myopia	1415	CRYBB2	ORPHA:1377
HP:0000545	Myopia	1414	CRYBB1	ORPHA:1377
HP:0000545	Myopia	1420	CRYGC	ORPHA:1377
HP:0000545	Myopia	1421	CRYGD	ORPHA:1377
HP:0000545	Myopia	9990	SLC12A6	ORPHA:1496
HP:0000545	Myopia	1297	COL9A1	ORPHA:250984
HP:0000545	Myopia	1297	COL9A1	OMIM:614134
HP:0000545	Myopia	1298	COL9A2	ORPHA:250984
HP:0000545	Myopia	1299	COL9A3	ORPHA:250984
HP:0000545	Myopia	7407	VARS1	OMIM:617802
HP:0000545	Myopia	6497	SKI	ORPHA:2462
HP:0000545	Myopia	6497	SKI	OMIM:182212
HP:0000545	Myopia	1545	CYP1B1	ORPHA:98976
HP:0000545	Myopia	7010	TEK	ORPHA:98976
HP:0000545	Myopia	51095	TRNT1	OMIM:616959
HP:0000545	Myopia	84181	CHD6	ORPHA:2108
HP:0000545	Myopia	1288	COL4A6	ORPHA:1018
HP:0000545	Myopia	1287	COL4A5	ORPHA:1018
HP:0000545	Myopia	1287	COL4A5	OMIM:301050
HP:0000545	Myopia	10075	HUWE1	OMIM:309590
HP:0000545	Myopia	4693	NDP	ORPHA:90050
HP:0000545	Myopia	4041	LRP5	ORPHA:90050
HP:0000545	Myopia	8322	FZD4	ORPHA:90050
HP:0000545	Myopia	84627	ZNF469	OMIM:229200
HP:0000545	Myopia	11020	IFT27	OMIM:615996
HP:0000545	Myopia	2335	FN1	ORPHA:93315
HP:0000545	Myopia	291	SLC25A4	ORPHA:1369
HP:0000545	Myopia	26007	TKFC	ORPHA:1369
HP:0000545	Myopia	23291	FBXW11	OMIM:618914
HP:0000545	Myopia	4893	NRAS	OMIM:613224
HP:0000545	Myopia	5076	PAX2	ORPHA:1475
HP:0000545	Myopia	55033	FKBP14	OMIM:614557
HP:0000545	Myopia	55033	FKBP14	ORPHA:300179
HP:0000545	Myopia	64135	IFIH1	OMIM:182250
HP:0000545	Myopia	6597	SMARCA4	ORPHA:1465
HP:0000545	Myopia	6598	SMARCB1	ORPHA:1465
HP:0000545	Myopia	6659	SOX4	ORPHA:1465
HP:0000545	Myopia	8289	ARID1A	ORPHA:1465
HP:0000545	Myopia	5977	DPF2	ORPHA:1465
HP:0000545	Myopia	6601	SMARCC2	ORPHA:1465
HP:0000545	Myopia	6602	SMARCD1	ORPHA:1465
HP:0000545	Myopia	196528	ARID2	ORPHA:1465
HP:0000545	Myopia	6605	SMARCE1	ORPHA:1465
HP:0000545	Myopia	6664	SOX11	ORPHA:1465
HP:0000545	Myopia	54974	THG1L	OMIM:618800
HP:0000545	Myopia	5604	MAP2K1	ORPHA:1340
HP:0000545	Myopia	5604	MAP2K1	OMIM:163950
HP:0000545	Myopia	5718	PSMD12	ORPHA:529962
HP:0000545	Myopia	2186	BPTF	ORPHA:529962
HP:0000545	Myopia	8985	PLOD3	OMIM:612394
HP:0000545	Myopia	80781	COL18A1	ORPHA:1571
HP:0000545	Myopia	5062	PAK2	ORPHA:1571
HP:0000545	Myopia	23476	BRD4	ORPHA:199
HP:0000545	Myopia	8243	SMC1A	ORPHA:199
HP:0000545	Myopia	6878	TAF6	ORPHA:199
HP:0000545	Myopia	5885	RAD21	ORPHA:199
HP:0000545	Myopia	7399	USH2A	ORPHA:231178
HP:0000545	Myopia	79955	PDZD7	ORPHA:231178
HP:0000545	Myopia	4647	MYO7A	ORPHA:231178
HP:0000545	Myopia	25861	WHRN	ORPHA:231178
HP:0000545	Myopia	84059	ADGRV1	ORPHA:231178
HP:0000545	Myopia	7874	USP7	ORPHA:500055
HP:0000545	Myopia	23545	ATP6V0A2	OMIM:219200
HP:0000545	Myopia	23630	KCNE5	ORPHA:86818
HP:0000545	Myopia	2182	ACSL4	ORPHA:86818
HP:0000545	Myopia	9949	AMMECR1	ORPHA:86818
HP:0000545	Myopia	1121	CHM	ORPHA:180
HP:0000545	Myopia	1806	DPYD	ORPHA:1675
HP:0000545	Myopia	1806	DPYD	ORPHA:293948
HP:0000545	Myopia	3832	KIF11	ORPHA:2526
HP:0000545	Myopia	3832	KIF11	OMIM:152950
HP:0000545	Myopia	54676	GTPBP2	OMIM:617988
HP:0000545	Myopia	113246	C12orf57	OMIM:218340
HP:0000545	Myopia	8241	RBM10	ORPHA:2886
HP:0000545	Myopia	54802	TRIT1	OMIM:617873
HP:0000545	Myopia	6651	SON	ORPHA:500150
HP:0000545	Myopia	1387	CREBBP	ORPHA:592574
HP:0000545	Myopia	387	RHOA	OMIM:618727
HP:0000545	Myopia	170692	ADAMTS18	OMIM:615458
HP:0000545	Myopia	1285	COL4A3	OMIM:104200
HP:0000545	Myopia	9203	ZMYM3	OMIM:301111
HP:0000545	Myopia	1968	EIF2S3	OMIM:300148
HP:0000545	Myopia	23404	EXOSC2	OMIM:617763
HP:0000545	Myopia	7543	ZFX	OMIM:301118
HP:0000545	Myopia	157657	CFAP418	OMIM:617406
HP:0000545	Myopia	5130	PCYT1A	OMIM:608940
HP:0000545	Myopia	5781	PTPN11	OMIM:163950
HP:0000545	Myopia	84189	SLITRK6	OMIM:221200
HP:0000545	Myopia	84320	ACBD6	OMIM:620785
HP:0000545	Myopia	2202	EFEMP1	OMIM:620780
HP:0000545	Myopia	2202	EFEMP1	ORPHA:98977
HP:0000545	Myopia	1605	DAG1	ORPHA:370997
HP:0000545	Myopia	1605	DAG1	OMIM:616538
HP:0000545	Myopia	7045	TGFBI	ORPHA:98964
HP:0000545	Myopia	256471	MFSD8	OMIM:616170
HP:0000545	Myopia	55610	VPS50	OMIM:619685
HP:0000545	Myopia	54453	RIN2	ORPHA:217335
HP:0000545	Myopia	54453	RIN2	OMIM:613075
HP:0000545	Myopia	64412	GZF1	OMIM:617662
HP:0000545	Myopia	123016	TTC8	OMIM:613464
HP:0000545	Myopia	79631	EFL1	OMIM:617941
HP:0000545	Myopia	90161	HS6ST2	OMIM:301025
HP:0000545	Myopia	8925	HERC1	ORPHA:457359
HP:0000545	Myopia	170691	ADAMTS17	OMIM:613195
HP:0000545	Myopia	170691	ADAMTS17	ORPHA:3449
HP:0000545	Myopia	9364	RAB28	OMIM:615374
HP:0000545	Myopia	10265	IRX5	OMIM:611174
HP:0000545	Myopia	80204	FBXO11	OMIM:618089
HP:0000545	Myopia	84146	ZNF644	OMIM:614167
HP:0000545	Myopia	7276	TTR	OMIM:105210
HP:0000545	Myopia	444	ASPH	OMIM:601552
HP:0000545	Myopia	10524	KAT5	OMIM:619103
HP:0000545	Myopia	55214	P3H2	OMIM:614292
HP:0000545	Myopia	9997	SCO2	OMIM:608908
HP:0000545	Myopia	201973	PRIMPOL	OMIM:615420
HP:0000545	Myopia	1410	CRYAB	OMIM:613763
HP:0000545	Myopia	6785	ELOVL4	OMIM:614457
HP:0000545	Myopia	7855	FZD5	OMIM:620731
HP:0000545	Myopia	9419	CRIPT	OMIM:615789
HP:0000545	Myopia	283375	SLC39A5	OMIM:615946
HP:0000545	Myopia	81794	ADAMTS10	OMIM:277600
HP:0000545	Myopia	81794	ADAMTS10	ORPHA:3449
HP:0000545	Myopia	6611	SMS	ORPHA:3063
HP:0000545	Myopia	6611	SMS	OMIM:309583
HP:0000545	Myopia	2261	FGFR3	OMIM:616482
HP:0000545	Myopia	54507	ADAMTSL4	OMIM:225200
HP:0000545	Myopia	3052	HCCS	OMIM:309801
HP:0000545	Myopia	10526	IPO8	OMIM:619472
HP:0000545	Myopia	4043	LRPAP1	OMIM:615431
HP:0000545	Myopia	29894	CPSF1	OMIM:618827
HP:0000545	Myopia	83475	DOHH	OMIM:620066
HP:0000545	Myopia	51611	DPH5	OMIM:620070
HP:0000545	Myopia	407	ARR3	OMIM:301010
HP:0000545	Myopia	8314	BAP1	OMIM:619762
HP:0000545	Myopia	2065	ERBB3	OMIM:607598
HP:0000545	Myopia	523	ATP6V1A	ORPHA:357074
HP:0000545	Myopia	529	ATP6V1E1	ORPHA:357074
HP:0000545	Myopia	282809	POC1B	OMIM:615973
HP:0000545	Myopia	8974	P4HA2	OMIM:617238
HP:0000545	Myopia	1302	COL11A2	ORPHA:1427
HP:0000545	Myopia	5498	PPOX	OMIM:620483
HP:0000545	Myopia	285440	CYP4V2	OMIM:210370
HP:0000545	Myopia	64802	NMNAT1	OMIM:619260
HP:0000545	Myopia	2742	GLRA2	OMIM:301076
HP:0000545	Myopia	23093	TTLL5	OMIM:615860
HP:0000545	Myopia	84695	LOXL3	OMIM:619781
HP:0000545	Myopia	7873	MANF	OMIM:620651
HP:0000545	Myopia	27245	AHDC1	ORPHA:412069
HP:0000545	Myopia	8481	OFD1	OMIM:300424
HP:0000545	Myopia	8367	H4C5	OMIM:619950
HP:0000545	Myopia	2316	FLNA	ORPHA:555877
HP:0000545	Myopia	8364	H4C3	OMIM:619758
HP:0000545	Myopia	583	BBS2	OMIM:615981
HP:0007894	Hypopigmentation of the fundus	4547	MTTP	ORPHA:14
HP:0007894	Hypopigmentation of the fundus	57724	EPG5	OMIM:242840
HP:0007894	Hypopigmentation of the fundus	7299	TYR	OMIM:606952
HP:0007894	Hypopigmentation of the fundus	1910	EDNRB	OMIM:600501
HP:0007894	Hypopigmentation of the fundus	1121	CHM	OMIM:303100
HP:0007894	Hypopigmentation of the fundus	778	CACNA1F	OMIM:300600
HP:0007894	Hypopigmentation of the fundus	778	CACNA1F	ORPHA:178333
HP:0007894	Hypopigmentation of the fundus	374654	KIF7	OMIM:200990
HP:0007894	Hypopigmentation of the fundus	26258	BLOC1S6	OMIM:614171
HP:0007894	Hypopigmentation of the fundus	5077	PAX3	OMIM:193500
HP:0007894	Hypopigmentation of the fundus	4935	GPR143	OMIM:300814
HP:0007894	Hypopigmentation of the fundus	5080	PAX6	ORPHA:250923
HP:0007894	Hypopigmentation of the fundus	2296	FOXC1	ORPHA:250923
HP:0007894	Hypopigmentation of the fundus	54765	TRIM44	ORPHA:250923
HP:0007894	Hypopigmentation of the fundus	6663	SOX10	OMIM:611584
HP:0007894	Hypopigmentation of the fundus	4286	MITF	OMIM:103500
HP:0007894	Hypopigmentation of the fundus	4157	MC1R	OMIM:203200
HP:0007894	Hypopigmentation of the fundus	4948	OCA2	OMIM:203200
HP:0007894	Hypopigmentation of the fundus	1282	COL4A1	OMIM:175780
HP:0007894	Hypopigmentation of the fundus	51151	SLC45A2	OMIM:606574
HP:0007894	Hypopigmentation of the fundus	3913	LAMB2	OMIM:609049
HP:0007894	Hypopigmentation of the fundus	5961	PRPH2	ORPHA:75377
HP:0007894	Hypopigmentation of the fundus	3000	GUCY2D	ORPHA:75377
HP:0007894	Hypopigmentation of the fundus	2978	GUCA1A	ORPHA:75377
HP:0007894	Hypopigmentation of the fundus	10166	SLC25A15	OMIM:238970
HP:0007894	Hypopigmentation of the fundus	2677	GGCX	ORPHA:436274
HP:0007894	Hypopigmentation of the fundus	3458	IFNG	OMIM:613254
HP:0007894	Hypopigmentation of the fundus	7249	TSC2	OMIM:613254
HP:0007894	Hypopigmentation of the fundus	7248	TSC1	OMIM:191100
HP:0000518	Cataract	1409	CRYAA	OMIM:604219
HP:0000518	Cataract	1409	CRYAA	ORPHA:1377
HP:0000518	Cataract	875	CBS	ORPHA:394
HP:0000518	Cataract	2218	FKTN	ORPHA:272
HP:0000518	Cataract	2218	FKTN	ORPHA:588
HP:0000518	Cataract	2218	FKTN	OMIM:236670
HP:0000518	Cataract	2218	FKTN	ORPHA:899
HP:0000518	Cataract	2218	FKTN	OMIM:253800
HP:0000518	Cataract	1410	CRYAB	OMIM:608810
HP:0000518	Cataract	1410	CRYAB	OMIM:615184
HP:0000518	Cataract	26235	FBXL4	OMIM:615471
HP:0000518	Cataract	29925	GMPPB	OMIM:615350
HP:0000518	Cataract	29925	GMPPB	OMIM:615351
HP:0000518	Cataract	29925	GMPPB	OMIM:615352
HP:0000518	Cataract	29925	GMPPB	ORPHA:588
HP:0000518	Cataract	29925	GMPPB	ORPHA:370959
HP:0000518	Cataract	29925	GMPPB	ORPHA:363623
HP:0000518	Cataract	83932	SPRTN	OMIM:616200
HP:0000518	Cataract	1763	DNA2	OMIM:620819
HP:0000518	Cataract	2200	FBN1	ORPHA:1885
HP:0000518	Cataract	2200	FBN1	OMIM:184900
HP:0000518	Cataract	2200	FBN1	OMIM:608328
HP:0000518	Cataract	2200	FBN1	ORPHA:3449
HP:0000518	Cataract	2200	FBN1	OMIM:154700
HP:0000518	Cataract	54507	ADAMTSL4	ORPHA:1885
HP:0000518	Cataract	54507	ADAMTSL4	OMIM:225200
HP:0000518	Cataract	3145	HMBS	OMIM:620704
HP:0000518	Cataract	1161	ERCC8	ORPHA:90324
HP:0000518	Cataract	1161	ERCC8	ORPHA:90321
HP:0000518	Cataract	1161	ERCC8	OMIM:216400
HP:0000518	Cataract	2074	ERCC6	ORPHA:90324
HP:0000518	Cataract	2074	ERCC6	ORPHA:90321
HP:0000518	Cataract	2074	ERCC6	OMIM:214150
HP:0000518	Cataract	2074	ERCC6	ORPHA:1466
HP:0000518	Cataract	2972	BRF1	OMIM:616202
HP:0000518	Cataract	2972	BRF1	ORPHA:444072
HP:0000518	Cataract	60684	TRAPPC11	OMIM:615356
HP:0000518	Cataract	60684	TRAPPC11	ORPHA:369840
HP:0000518	Cataract	60684	TRAPPC11	ORPHA:369847
HP:0000518	Cataract	4897	NRCAM	OMIM:619833
HP:0000518	Cataract	81857	MED25	OMIM:616449
HP:0000518	Cataract	1786	DNMT1	ORPHA:314404
HP:0000518	Cataract	84942	WDR73	OMIM:251300
HP:0000518	Cataract	4693	NDP	OMIM:310600
HP:0000518	Cataract	4693	NDP	ORPHA:891
HP:0000518	Cataract	4693	NDP	ORPHA:649
HP:0000518	Cataract	4693	NDP	ORPHA:90050
HP:0000518	Cataract	4693	NDP	ORPHA:91495
HP:0000518	Cataract	4693	NDP	ORPHA:190
HP:0000518	Cataract	1736	DKC1	OMIM:305000
HP:0000518	Cataract	1736	DKC1	OMIM:301108
HP:0000518	Cataract	1736	DKC1	ORPHA:1775
HP:0000518	Cataract	5830	PEX5	OMIM:214110
HP:0000518	Cataract	5830	PEX5	ORPHA:772
HP:0000518	Cataract	5830	PEX5	ORPHA:44
HP:0000518	Cataract	5830	PEX5	ORPHA:912
HP:0000518	Cataract	2072	ERCC4	ORPHA:90321
HP:0000518	Cataract	2072	ERCC4	ORPHA:84
HP:0000518	Cataract	2072	ERCC4	ORPHA:910
HP:0000518	Cataract	347733	TUBB2B	ORPHA:1766
HP:0000518	Cataract	347733	TUBB2B	ORPHA:45358
HP:0000518	Cataract	7436	VLDLR	ORPHA:1766
HP:0000518	Cataract	7436	VLDLR	OMIM:224050
HP:0000518	Cataract	124997	WDR81	ORPHA:1766
HP:0000518	Cataract	51761	ATP8A2	ORPHA:1766
HP:0000518	Cataract	767	CA8	ORPHA:1766
HP:0000518	Cataract	6720	SREBF1	OMIM:158310
HP:0000518	Cataract	6720	SREBF1	OMIM:619016
HP:0000518	Cataract	4125	MAN2B1	ORPHA:309282
HP:0000518	Cataract	4125	MAN2B1	ORPHA:309288
HP:0000518	Cataract	114803	MYSM1	ORPHA:508542
HP:0000518	Cataract	54714	CNGB3	OMIM:262300
HP:0000518	Cataract	5728	PTEN	ORPHA:2969
HP:0000518	Cataract	5728	PTEN	ORPHA:201
HP:0000518	Cataract	5728	PTEN	OMIM:158350
HP:0000518	Cataract	4149	MAX	OMIM:620712
HP:0000518	Cataract	84197	POMK	OMIM:615249
HP:0000518	Cataract	84197	POMK	ORPHA:899
HP:0000518	Cataract	84197	POMK	ORPHA:370959
HP:0000518	Cataract	4286	MITF	OMIM:617306
HP:0000518	Cataract	7486	WRN	OMIM:277700
HP:0000518	Cataract	7486	WRN	ORPHA:902
HP:0000518	Cataract	7086	TKT	ORPHA:488618
HP:0000518	Cataract	5189	PEX1	OMIM:214100
HP:0000518	Cataract	5189	PEX1	ORPHA:772
HP:0000518	Cataract	5189	PEX1	ORPHA:44
HP:0000518	Cataract	5189	PEX1	ORPHA:912
HP:0000518	Cataract	5080	PAX6	ORPHA:35737
HP:0000518	Cataract	5080	PAX6	ORPHA:893
HP:0000518	Cataract	5080	PAX6	ORPHA:2253
HP:0000518	Cataract	5080	PAX6	OMIM:106210
HP:0000518	Cataract	5080	PAX6	ORPHA:2334
HP:0000518	Cataract	5080	PAX6	ORPHA:250923
HP:0000518	Cataract	3105	HLA-A	ORPHA:179
HP:0000518	Cataract	220202	ATOH7	OMIM:221900
HP:0000518	Cataract	220202	ATOH7	ORPHA:91495
HP:0000518	Cataract	112802	KRT71	ORPHA:170
HP:0000518	Cataract	121391	KRT74	ORPHA:170
HP:0000518	Cataract	200879	LIPH	ORPHA:170
HP:0000518	Cataract	10161	LPAR6	ORPHA:170
HP:0000518	Cataract	147183	KRT25	ORPHA:170
HP:0000518	Cataract	23250	ATP11A	OMIM:619851
HP:0000518	Cataract	5832	ALDH18A1	OMIM:616586
HP:0000518	Cataract	5832	ALDH18A1	OMIM:601162
HP:0000518	Cataract	5832	ALDH18A1	ORPHA:35664
HP:0000518	Cataract	5832	ALDH18A1	OMIM:219150
HP:0000518	Cataract	1298	COL9A2	OMIM:614284
HP:0000518	Cataract	1298	COL9A2	ORPHA:250984
HP:0000518	Cataract	130589	GALM	OMIM:618881
HP:0000518	Cataract	130589	GALM	ORPHA:570422
HP:0000518	Cataract	2671	GFER	OMIM:613076
HP:0000518	Cataract	79797	ZNF408	OMIM:616468
HP:0000518	Cataract	79797	ZNF408	ORPHA:891
HP:0000518	Cataract	54880	BCOR	ORPHA:2712
HP:0000518	Cataract	54880	BCOR	ORPHA:568
HP:0000518	Cataract	55699	IARS2	ORPHA:436174
HP:0000518	Cataract	55699	IARS2	OMIM:616007
HP:0000518	Cataract	27151	CPAMD8	OMIM:617319
HP:0000518	Cataract	51109	RDH11	OMIM:616108
HP:0000518	Cataract	84100	ARL6	OMIM:209900
HP:0000518	Cataract	84100	ARL6	ORPHA:110
HP:0000518	Cataract	79140	CCDC28B	OMIM:209900
HP:0000518	Cataract	582	BBS1	OMIM:209900
HP:0000518	Cataract	582	BBS1	ORPHA:110
HP:0000518	Cataract	79184	BRCC3	ORPHA:280679
HP:0000518	Cataract	6100	RP9	OMIM:180104
HP:0000518	Cataract	2697	GJA1	ORPHA:2710
HP:0000518	Cataract	2697	GJA1	ORPHA:317
HP:0000518	Cataract	2697	GJA1	OMIM:164200
HP:0000518	Cataract	2697	GJA1	OMIM:257850
HP:0000518	Cataract	7020	TFAP2A	OMIM:113620
HP:0000518	Cataract	7020	TFAP2A	ORPHA:1297
HP:0000518	Cataract	2512	FTL	ORPHA:163
HP:0000518	Cataract	2512	FTL	ORPHA:254704
HP:0000518	Cataract	2512	FTL	OMIM:600886
HP:0000518	Cataract	857	CAV1	OMIM:606721
HP:0000518	Cataract	23347	SMCHD1	OMIM:603457
HP:0000518	Cataract	23347	SMCHD1	ORPHA:2250
HP:0000518	Cataract	8726	EED	OMIM:617561
HP:0000518	Cataract	54968	TMEM70	OMIM:614052
HP:0000518	Cataract	55214	P3H2	OMIM:614292
HP:0000518	Cataract	64121	RRAGC	OMIM:620609
HP:0000518	Cataract	1280	COL2A1	ORPHA:90653
HP:0000518	Cataract	1280	COL2A1	ORPHA:1856
HP:0000518	Cataract	1280	COL2A1	ORPHA:485
HP:0000518	Cataract	1280	COL2A1	OMIM:132450
HP:0000518	Cataract	1280	COL2A1	OMIM:156550
HP:0000518	Cataract	1280	COL2A1	OMIM:108300
HP:0000518	Cataract	1280	COL2A1	ORPHA:93296
HP:0000518	Cataract	8550	MAPKAPK5	OMIM:619869
HP:0000518	Cataract	1301	COL11A1	ORPHA:90654
HP:0000518	Cataract	1301	COL11A1	OMIM:604841
HP:0000518	Cataract	1301	COL11A1	ORPHA:560
HP:0000518	Cataract	1301	COL11A1	OMIM:154780
HP:0000518	Cataract	4771	NF2	ORPHA:93921
HP:0000518	Cataract	4771	NF2	OMIM:101000
HP:0000518	Cataract	6598	SMARCB1	ORPHA:93921
HP:0000518	Cataract	51004	COQ6	ORPHA:93921
HP:0000518	Cataract	8216	LZTR1	ORPHA:93921
HP:0000518	Cataract	1201	CLN3	OMIM:204200
HP:0000518	Cataract	64132	XYLT2	ORPHA:85194
HP:0000518	Cataract	64132	XYLT2	OMIM:605822
HP:0000518	Cataract	23268	DNMBP	OMIM:618415
HP:0000518	Cataract	4929	NR4A2	ORPHA:1617
HP:0000518	Cataract	10716	TBR1	ORPHA:1617
HP:0000518	Cataract	2316	FLNA	ORPHA:90652
HP:0000518	Cataract	2316	FLNA	OMIM:304120
HP:0000518	Cataract	81794	ADAMTS10	OMIM:277600
HP:0000518	Cataract	81794	ADAMTS10	ORPHA:3449
HP:0000518	Cataract	3981	LIG4	ORPHA:235
HP:0000518	Cataract	54888	NSUN2	ORPHA:235
HP:0000518	Cataract	92482	BBIP1	ORPHA:110
HP:0000518	Cataract	92482	BBIP1	OMIM:615995
HP:0000518	Cataract	80184	CEP290	ORPHA:110
HP:0000518	Cataract	80184	CEP290	ORPHA:564
HP:0000518	Cataract	80184	CEP290	ORPHA:3156
HP:0000518	Cataract	80184	CEP290	ORPHA:65
HP:0000518	Cataract	11020	IFT27	ORPHA:110
HP:0000518	Cataract	49855	SCAPER	ORPHA:110
HP:0000518	Cataract	4867	NPHP1	ORPHA:110
HP:0000518	Cataract	4867	NPHP1	ORPHA:3156
HP:0000518	Cataract	51057	WDPCP	ORPHA:110
HP:0000518	Cataract	132320	SCLT1	ORPHA:110
HP:0000518	Cataract	27241	BBS9	ORPHA:110
HP:0000518	Cataract	27241	BBS9	OMIM:615986
HP:0000518	Cataract	84984	CEP19	ORPHA:110
HP:0000518	Cataract	22954	TRIM32	ORPHA:110
HP:0000518	Cataract	54903	MKS1	ORPHA:110
HP:0000518	Cataract	54903	MKS1	ORPHA:564
HP:0000518	Cataract	79738	BBS10	ORPHA:110
HP:0000518	Cataract	123016	TTC8	ORPHA:110
HP:0000518	Cataract	26160	IFT172	ORPHA:110
HP:0000518	Cataract	583	BBS2	ORPHA:110
HP:0000518	Cataract	585	BBS4	ORPHA:110
HP:0000518	Cataract	8195	MKKS	ORPHA:110
HP:0000518	Cataract	54585	LZTFL1	ORPHA:110
HP:0000518	Cataract	55212	BBS7	ORPHA:110
HP:0000518	Cataract	166379	BBS12	ORPHA:110
HP:0000518	Cataract	10806	SDCCAG8	ORPHA:110
HP:0000518	Cataract	10806	SDCCAG8	ORPHA:3156
HP:0000518	Cataract	157657	CFAP418	ORPHA:110
HP:0000518	Cataract	157657	CFAP418	OMIM:614500
HP:0000518	Cataract	129880	BBS5	ORPHA:110
HP:0000518	Cataract	80173	IFT74	ORPHA:110
HP:0000518	Cataract	54539	NDUFB11	OMIM:309801
HP:0000518	Cataract	1349	COX7B	OMIM:309801
HP:0000518	Cataract	3052	HCCS	OMIM:309801
HP:0000518	Cataract	2936	GSR	OMIM:618660
HP:0000518	Cataract	3769	KCNJ13	OMIM:614186
HP:0000518	Cataract	3769	KCNJ13	ORPHA:65
HP:0000518	Cataract	3769	KCNJ13	OMIM:193230
HP:0000518	Cataract	27125	AFF4	OMIM:616368
HP:0000518	Cataract	27125	AFF4	ORPHA:444077
HP:0000518	Cataract	2592	GALT	OMIM:230400
HP:0000518	Cataract	2592	GALT	ORPHA:79239
HP:0000518	Cataract	116115	ZNF526	OMIM:619877
HP:0000518	Cataract	5590	PRKCZ	ORPHA:1606
HP:0000518	Cataract	2563	GABRD	ORPHA:1606
HP:0000518	Cataract	23013	SPEN	ORPHA:1606
HP:0000518	Cataract	8510	MMP23B	ORPHA:1606
HP:0000518	Cataract	7798	LUZP1	ORPHA:1606
HP:0000518	Cataract	6497	SKI	ORPHA:1606
HP:0000518	Cataract	10630	PDPN	ORPHA:1606
HP:0000518	Cataract	3339	HSPG2	ORPHA:1606
HP:0000518	Cataract	3339	HSPG2	OMIM:255800
HP:0000518	Cataract	3339	HSPG2	OMIM:224410
HP:0000518	Cataract	3339	HSPG2	ORPHA:800
HP:0000518	Cataract	10277	UBE4B	ORPHA:1606
HP:0000518	Cataract	8514	KCNAB2	ORPHA:1606
HP:0000518	Cataract	473	RERE	ORPHA:1606
HP:0000518	Cataract	63976	PRDM16	ORPHA:1606
HP:0000518	Cataract	54897	CASZ1	ORPHA:1606
HP:0000518	Cataract	415	ARSL	ORPHA:79345
HP:0000518	Cataract	415	ARSL	OMIM:302950
HP:0000518	Cataract	148789	B3GALNT2	ORPHA:588
HP:0000518	Cataract	148789	B3GALNT2	OMIM:615181
HP:0000518	Cataract	148789	B3GALNT2	ORPHA:899
HP:0000518	Cataract	79147	FKRP	ORPHA:588
HP:0000518	Cataract	79147	FKRP	OMIM:236670
HP:0000518	Cataract	79147	FKRP	ORPHA:899
HP:0000518	Cataract	79147	FKRP	ORPHA:370959
HP:0000518	Cataract	79147	FKRP	OMIM:613153
HP:0000518	Cataract	9215	LARGE1	ORPHA:588
HP:0000518	Cataract	9215	LARGE1	OMIM:236670
HP:0000518	Cataract	9215	LARGE1	ORPHA:899
HP:0000518	Cataract	29954	POMT2	ORPHA:588
HP:0000518	Cataract	29954	POMT2	OMIM:236670
HP:0000518	Cataract	29954	POMT2	ORPHA:899
HP:0000518	Cataract	29954	POMT2	ORPHA:370959
HP:0000518	Cataract	29954	POMT2	OMIM:613150
HP:0000518	Cataract	729920	CRPPA	ORPHA:588
HP:0000518	Cataract	729920	CRPPA	ORPHA:899
HP:0000518	Cataract	729920	CRPPA	OMIM:614643
HP:0000518	Cataract	55624	POMGNT1	ORPHA:588
HP:0000518	Cataract	55624	POMGNT1	ORPHA:899
HP:0000518	Cataract	55624	POMGNT1	ORPHA:370959
HP:0000518	Cataract	55624	POMGNT1	OMIM:253280
HP:0000518	Cataract	10585	POMT1	ORPHA:588
HP:0000518	Cataract	10585	POMT1	OMIM:236670
HP:0000518	Cataract	10585	POMT1	ORPHA:899
HP:0000518	Cataract	10585	POMT1	ORPHA:370959
HP:0000518	Cataract	229	ALDOB	ORPHA:469
HP:0000518	Cataract	85365	ALG2	ORPHA:79326
HP:0000518	Cataract	85365	ALG2	OMIM:607906
HP:0000518	Cataract	285362	SUMF1	ORPHA:585
HP:0000518	Cataract	8517	IKBKG	ORPHA:464
HP:0000518	Cataract	8517	IKBKG	OMIM:308300
HP:0000518	Cataract	55210	ATAD3A	ORPHA:496790
HP:0000518	Cataract	5605	MAP2K2	OMIM:615280
HP:0000518	Cataract	253959	RALGAPA1	OMIM:618797
HP:0000518	Cataract	2232	FDXR	ORPHA:543470
HP:0000518	Cataract	3913	LAMB2	OMIM:614199
HP:0000518	Cataract	3913	LAMB2	OMIM:609049
HP:0000518	Cataract	4285	MIPEP	OMIM:617228
HP:0000518	Cataract	6121	RPE65	OMIM:204100
HP:0000518	Cataract	6121	RPE65	ORPHA:65
HP:0000518	Cataract	9562	MINPP1	OMIM:619527
HP:0000518	Cataract	26154	ABCA12	ORPHA:457
HP:0000518	Cataract	5373	PMM2	ORPHA:79318
HP:0000518	Cataract	5727	PTCH1	ORPHA:377
HP:0000518	Cataract	5727	PTCH1	OMIM:109400
HP:0000518	Cataract	5727	PTCH1	ORPHA:77301
HP:0000518	Cataract	8643	PTCH2	ORPHA:377
HP:0000518	Cataract	51684	SUFU	ORPHA:377
HP:0000518	Cataract	57724	EPG5	OMIM:242840
HP:0000518	Cataract	57724	EPG5	ORPHA:1493
HP:0000518	Cataract	55739	NAXD	OMIM:618321
HP:0000518	Cataract	326	AIRE	OMIM:240300
HP:0000518	Cataract	326	AIRE	ORPHA:3453
HP:0000518	Cataract	57479	PRR12	OMIM:619539
HP:0000518	Cataract	5741	PTH	OMIM:146200
HP:0000518	Cataract	2303	FOXC2	ORPHA:33001
HP:0000518	Cataract	2317	FLNB	OMIM:272460
HP:0000518	Cataract	10195	ALG3	ORPHA:79321
HP:0000518	Cataract	64127	NOD2	ORPHA:90340
HP:0000518	Cataract	64127	NOD2	OMIM:186580
HP:0000518	Cataract	2778	GNAS	ORPHA:79443
HP:0000518	Cataract	2778	GNAS	ORPHA:79444
HP:0000518	Cataract	2778	GNAS	ORPHA:94089
HP:0000518	Cataract	2778	GNAS	OMIM:612463
HP:0000518	Cataract	2778	GNAS	OMIM:612462
HP:0000518	Cataract	2778	GNAS	OMIM:103580
HP:0000518	Cataract	84295	PHF6	ORPHA:127
HP:0000518	Cataract	79053	ALG8	ORPHA:79325
HP:0000518	Cataract	9896	FIG4	OMIM:216340
HP:0000518	Cataract	9896	FIG4	ORPHA:3472
HP:0000518	Cataract	257	ALX3	OMIM:136760
HP:0000518	Cataract	257	ALX3	ORPHA:391474
HP:0000518	Cataract	23676	SMPX	OMIM:301075
HP:0000518	Cataract	404672	GTF2H5	OMIM:616395
HP:0000518	Cataract	1387	CREBBP	OMIM:618332
HP:0000518	Cataract	1387	CREBBP	ORPHA:353281
HP:0000518	Cataract	1387	CREBBP	OMIM:180849
HP:0000518	Cataract	1387	CREBBP	ORPHA:353277
HP:0000518	Cataract	9742	IFT140	OMIM:266920
HP:0000518	Cataract	9742	IFT140	ORPHA:65
HP:0000518	Cataract	81570	CLPB	OMIM:616271
HP:0000518	Cataract	81570	CLPB	ORPHA:445038
HP:0000518	Cataract	81570	CLPB	OMIM:619813
HP:0000518	Cataract	58497	PRUNE1	OMIM:617481
HP:0000518	Cataract	58497	PRUNE1	ORPHA:544469
HP:0000518	Cataract	3980	LIG3	OMIM:619780
HP:0000518	Cataract	26173	INTS1	OMIM:618571
HP:0000518	Cataract	84695	LOXL3	OMIM:619781
HP:0000518	Cataract	22930	RAB3GAP1	OMIM:619420
HP:0000518	Cataract	22930	RAB3GAP1	ORPHA:1387
HP:0000518	Cataract	22930	RAB3GAP1	ORPHA:2510
HP:0000518	Cataract	84188	FAR1	OMIM:616154
HP:0000518	Cataract	84188	FAR1	OMIM:619338
HP:0000518	Cataract	3000	GUCY2D	OMIM:204000
HP:0000518	Cataract	3000	GUCY2D	ORPHA:65
HP:0000518	Cataract	29968	PSAT1	OMIM:616038
HP:0000518	Cataract	27429	HTRA2	OMIM:617248
HP:0000518	Cataract	5908	RAP1B	OMIM:620654
HP:0000518	Cataract	2582	GALE	OMIM:620776
HP:0000518	Cataract	389827	MYMK	OMIM:254940
HP:0000518	Cataract	149233	IL23R	ORPHA:117
HP:0000518	Cataract	6775	STAT4	ORPHA:117
HP:0000518	Cataract	6775	STAT4	ORPHA:85410
HP:0000518	Cataract	3586	IL10	ORPHA:117
HP:0000518	Cataract	4210	MEFV	ORPHA:117
HP:0000518	Cataract	1230	CCR1	ORPHA:117
HP:0000518	Cataract	355	FAS	ORPHA:117
HP:0000518	Cataract	355	FAS	ORPHA:3437
HP:0000518	Cataract	3592	IL12A	ORPHA:117
HP:0000518	Cataract	101928376	IL12A-AS1	ORPHA:117
HP:0000518	Cataract	3106	HLA-B	ORPHA:117
HP:0000518	Cataract	7099	TLR4	ORPHA:117
HP:0000518	Cataract	3459	IFNGR1	ORPHA:117
HP:0000518	Cataract	720	C4A	ORPHA:117
HP:0000518	Cataract	337867	UBAC2	ORPHA:117
HP:0000518	Cataract	51752	ERAP1	ORPHA:117
HP:0000518	Cataract	8302	KLRC4	ORPHA:117
HP:0000518	Cataract	9949	AMMECR1	OMIM:300990
HP:0000518	Cataract	291	SLC25A4	ORPHA:254892
HP:0000518	Cataract	291	SLC25A4	ORPHA:1369
HP:0000518	Cataract	291	SLC25A4	OMIM:615418
HP:0000518	Cataract	5428	POLG	ORPHA:254892
HP:0000518	Cataract	5428	POLG	OMIM:157640
HP:0000518	Cataract	5428	POLG	OMIM:607459
HP:0000518	Cataract	5428	POLG	ORPHA:70595
HP:0000518	Cataract	56652	TWNK	ORPHA:254892
HP:0000518	Cataract	56652	TWNK	OMIM:609286
HP:0000518	Cataract	56652	TWNK	OMIM:607459
HP:0000518	Cataract	56652	TWNK	ORPHA:70595
HP:0000518	Cataract	11232	POLG2	ORPHA:254892
HP:0000518	Cataract	50484	RRM2B	ORPHA:254892
HP:0000518	Cataract	50484	RRM2B	OMIM:268315
HP:0000518	Cataract	9361	LONP1	OMIM:600373
HP:0000518	Cataract	9361	LONP1	ORPHA:1458
HP:0000518	Cataract	3912	LAMB1	OMIM:615191
HP:0000518	Cataract	8504	PEX3	OMIM:617370
HP:0000518	Cataract	8504	PEX3	ORPHA:772
HP:0000518	Cataract	8504	PEX3	ORPHA:44
HP:0000518	Cataract	8504	PEX3	OMIM:614882
HP:0000518	Cataract	8504	PEX3	ORPHA:912
HP:0000518	Cataract	51422	PRKAG2	OMIM:261740
HP:0000518	Cataract	1859	DYRK1A	ORPHA:268261
HP:0000518	Cataract	4598	MVK	ORPHA:29
HP:0000518	Cataract	4598	MVK	OMIM:610377
HP:0000518	Cataract	9785	DHX38	OMIM:618220
HP:0000518	Cataract	160418	TMTC3	OMIM:617255
HP:0000518	Cataract	79876	UBA5	OMIM:617133
HP:0000518	Cataract	335	APOA1	OMIM:618463
HP:0000518	Cataract	55505	NOP10	OMIM:620425
HP:0000518	Cataract	55505	NOP10	ORPHA:1775
HP:0000518	Cataract	1798	DPAGT1	OMIM:608093
HP:0000518	Cataract	2355	FOSL2	OMIM:620789
HP:0000518	Cataract	5309	PITX3	OMIM:610623
HP:0000518	Cataract	8675	STX16	ORPHA:94089
HP:0000518	Cataract	1605	DAG1	ORPHA:370997
HP:0000518	Cataract	1605	DAG1	ORPHA:899
HP:0000518	Cataract	1605	DAG1	OMIM:616538
HP:0000518	Cataract	10733	PLK4	OMIM:616171
HP:0000518	Cataract	1294	COL7A1	OMIM:226600
HP:0000518	Cataract	54765	TRIM44	OMIM:617142
HP:0000518	Cataract	54765	TRIM44	ORPHA:250923
HP:0000518	Cataract	26610	ELP4	OMIM:617141
HP:0000518	Cataract	5053	PAH	OMIM:261600
HP:0000518	Cataract	5053	PAH	ORPHA:79254
HP:0000518	Cataract	2033	EP300	ORPHA:353284
HP:0000518	Cataract	2033	EP300	OMIM:180849
HP:0000518	Cataract	2250	FGF5	OMIM:190330
HP:0000518	Cataract	4041	LRP5	OMIM:259770
HP:0000518	Cataract	4041	LRP5	ORPHA:891
HP:0000518	Cataract	4041	LRP5	ORPHA:90050
HP:0000518	Cataract	25885	POLR1A	OMIM:620675
HP:0000518	Cataract	8892	EIF2B2	OMIM:620312
HP:0000518	Cataract	2068	ERCC2	OMIM:610756
HP:0000518	Cataract	2068	ERCC2	OMIM:601675
HP:0000518	Cataract	2068	ERCC2	ORPHA:910
HP:0000518	Cataract	2068	ERCC2	ORPHA:1466
HP:0000518	Cataract	2068	ERCC2	OMIM:278730
HP:0000518	Cataract	1760	DMPK	OMIM:160900
HP:0000518	Cataract	1760	DMPK	ORPHA:589821
HP:0000518	Cataract	4952	OCRL	ORPHA:534
HP:0000518	Cataract	84892	POMGNT2	ORPHA:899
HP:0000518	Cataract	1282	COL4A1	ORPHA:899
HP:0000518	Cataract	10329	RXYLT1	ORPHA:899
HP:0000518	Cataract	11041	B4GAT1	ORPHA:899
HP:0000518	Cataract	4942	OAT	ORPHA:414
HP:0000518	Cataract	147409	DSG4	ORPHA:573
HP:0000518	Cataract	3892	KRT86	ORPHA:573
HP:0000518	Cataract	3889	KRT83	ORPHA:573
HP:0000518	Cataract	3887	KRT81	ORPHA:573
HP:0000518	Cataract	10059	DNM1L	ORPHA:98673
HP:0000518	Cataract	4976	OPA1	ORPHA:98673
HP:0000518	Cataract	28982	FLVCR1	ORPHA:88628
HP:0000518	Cataract	28982	FLVCR1	OMIM:609033
HP:0000518	Cataract	63925	ZNF335	OMIM:615095
HP:0000518	Cataract	112939	NACC1	OMIM:617393
HP:0000518	Cataract	92255	LMBRD2	OMIM:619694
HP:0000518	Cataract	3756	KCNH1	OMIM:135500
HP:0000518	Cataract	3756	KCNH1	ORPHA:3473
HP:0000518	Cataract	400569	MED11	OMIM:620327
HP:0000518	Cataract	91851	CHRDL1	OMIM:309300
HP:0000518	Cataract	6102	RP2	OMIM:312600
HP:0000518	Cataract	1312	COMT	ORPHA:567
HP:0000518	Cataract	221037	JMJD1C	ORPHA:567
HP:0000518	Cataract	2812	GP1BB	ORPHA:567
HP:0000518	Cataract	6239	RREB1	ORPHA:567
HP:0000518	Cataract	6899	TBX1	ORPHA:567
HP:0000518	Cataract	7290	HIRA	ORPHA:567
HP:0000518	Cataract	9632	SEC24C	ORPHA:567
HP:0000518	Cataract	7353	UFD1	ORPHA:567
HP:0000518	Cataract	421	ARVCF	ORPHA:567
HP:0000518	Cataract	55750	AGK	OMIM:212350
HP:0000518	Cataract	55750	AGK	ORPHA:1369
HP:0000518	Cataract	2717	GLA	ORPHA:324
HP:0000518	Cataract	1009	CDH11	OMIM:211380
HP:0000518	Cataract	8260	NAA10	ORPHA:568
HP:0000518	Cataract	444	ASPH	OMIM:601552
HP:0000518	Cataract	10483	SEC23B	ORPHA:201
HP:0000518	Cataract	6390	SDHB	ORPHA:201
HP:0000518	Cataract	6392	SDHD	ORPHA:201
HP:0000518	Cataract	6391	SDHC	ORPHA:201
HP:0000518	Cataract	207	AKT1	ORPHA:201
HP:0000518	Cataract	207	AKT1	ORPHA:744
HP:0000518	Cataract	207	AKT1	OMIM:615109
HP:0000518	Cataract	205717	USF3	ORPHA:201
HP:0000518	Cataract	5290	PIK3CA	ORPHA:201
HP:0000518	Cataract	5290	PIK3CA	OMIM:615108
HP:0000518	Cataract	100144748	KLLN	ORPHA:201
HP:0000518	Cataract	84314	TMEM107	ORPHA:564
HP:0000518	Cataract	26123	TCTN3	ORPHA:564
HP:0000518	Cataract	79867	TCTN2	ORPHA:564
HP:0000518	Cataract	80776	B9D2	ORPHA:564
HP:0000518	Cataract	79600	TCTN1	ORPHA:564
HP:0000518	Cataract	57096	RPGRIP1	ORPHA:564
HP:0000518	Cataract	57096	RPGRIP1	OMIM:613826
HP:0000518	Cataract	57096	RPGRIP1	ORPHA:65
HP:0000518	Cataract	79848	CSPP1	ORPHA:564
HP:0000518	Cataract	51259	TMEM216	ORPHA:564
HP:0000518	Cataract	57545	CC2D2A	ORPHA:564
HP:0000518	Cataract	57545	CC2D2A	OMIM:612285
HP:0000518	Cataract	79583	TMEM231	ORPHA:564
HP:0000518	Cataract	91147	TMEM67	ORPHA:564
HP:0000518	Cataract	79770	TXNDC15	ORPHA:564
HP:0000518	Cataract	27077	B9D1	ORPHA:564
HP:0000518	Cataract	23322	RPGRIP1L	ORPHA:564
HP:0000518	Cataract	65062	TMEM237	ORPHA:564
HP:0000518	Cataract	2583	B4GALNT1	ORPHA:101006
HP:0000518	Cataract	10002	NR2E3	OMIM:268100
HP:0000518	Cataract	372	ARCN1	OMIM:617164
HP:0000518	Cataract	11342	RNF13	OMIM:618379
HP:0000518	Cataract	11342	RNF13	ORPHA:544503
HP:0000518	Cataract	2071	ERCC3	OMIM:610651
HP:0000518	Cataract	2071	ERCC3	ORPHA:910
HP:0000518	Cataract	79644	SRD5A3	OMIM:612713
HP:0000518	Cataract	79644	SRD5A3	ORPHA:324737
HP:0000518	Cataract	79644	SRD5A3	OMIM:612379
HP:0000518	Cataract	2707	GJB3	ORPHA:317
HP:0000518	Cataract	2531	KDSR	ORPHA:317
HP:0000518	Cataract	127534	GJB4	ORPHA:317
HP:0000518	Cataract	4990	SIX6	OMIM:206900
HP:0000518	Cataract	4990	SIX6	OMIM:212550
HP:0000518	Cataract	6657	SOX2	OMIM:206900
HP:0000518	Cataract	6297	SALL2	OMIM:216820
HP:0000518	Cataract	5158	PDE6B	OMIM:613801
HP:0000518	Cataract	64374	SIL1	ORPHA:559
HP:0000518	Cataract	56244	BTNL2	ORPHA:797
HP:0000518	Cataract	3123	HLA-DRB1	ORPHA:797
HP:0000518	Cataract	145173	B3GLCT	OMIM:261540
HP:0000518	Cataract	145173	B3GLCT	ORPHA:709
HP:0000518	Cataract	6711	SPTBN1	OMIM:619475
HP:0000518	Cataract	1286	COL4A4	OMIM:203780
HP:0000518	Cataract	6513	SLC2A1	ORPHA:168577
HP:0000518	Cataract	6513	SLC2A1	OMIM:608885
HP:0000518	Cataract	10413	YAP1	OMIM:120433
HP:0000518	Cataract	10413	YAP1	ORPHA:1473
HP:0000518	Cataract	4810	NHS	ORPHA:627
HP:0000518	Cataract	6050	RNH1	OMIM:620461
HP:0000518	Cataract	526	ATP6V1B2	ORPHA:79500
HP:0000518	Cataract	526	ATP6V1B2	ORPHA:3473
HP:0000518	Cataract	57465	TBC1D24	ORPHA:79500
HP:0000518	Cataract	57465	TBC1D24	OMIM:220500
HP:0000518	Cataract	1412	CRYBA2	OMIM:115900
HP:0000518	Cataract	215	ABCD1	ORPHA:369942
HP:0000518	Cataract	10134	BCAP31	ORPHA:369942
HP:0000518	Cataract	8720	MBTPS1	OMIM:618392
HP:0000518	Cataract	25839	COG4	OMIM:618150
HP:0000518	Cataract	25839	COG4	ORPHA:85172
HP:0000518	Cataract	10682	EBP	OMIM:300960
HP:0000518	Cataract	10682	EBP	ORPHA:401973
HP:0000518	Cataract	10682	EBP	ORPHA:35173
HP:0000518	Cataract	10682	EBP	OMIM:302960
HP:0000518	Cataract	84172	POLR1B	ORPHA:861
HP:0000518	Cataract	9533	POLR1C	ORPHA:861
HP:0000518	Cataract	51082	POLR1D	ORPHA:861
HP:0000518	Cataract	6949	TCOF1	ORPHA:861
HP:0000518	Cataract	8239	USP9X	OMIM:300968
HP:0000518	Cataract	8239	USP9X	ORPHA:480880
HP:0000518	Cataract	57477	SHROOM4	ORPHA:85288
HP:0000518	Cataract	57704	GBA2	ORPHA:320391
HP:0000518	Cataract	57704	GBA2	OMIM:614409
HP:0000518	Cataract	6299	SALL1	ORPHA:857
HP:0000518	Cataract	51339	DACT1	ORPHA:857
HP:0000518	Cataract	3516	RBPJ	ORPHA:974
HP:0000518	Cataract	4851	NOTCH1	ORPHA:974
HP:0000518	Cataract	57514	ARHGAP31	ORPHA:974
HP:0000518	Cataract	57572	DOCK6	ORPHA:974
HP:0000518	Cataract	285203	EOGT	ORPHA:974
HP:0000518	Cataract	54567	DLL4	ORPHA:974
HP:0000518	Cataract	1406	CRX	OMIM:613829
HP:0000518	Cataract	1406	CRX	ORPHA:65
HP:0000518	Cataract	55670	PEX26	ORPHA:772
HP:0000518	Cataract	55670	PEX26	OMIM:614872
HP:0000518	Cataract	55670	PEX26	ORPHA:44
HP:0000518	Cataract	55670	PEX26	ORPHA:912
HP:0000518	Cataract	5824	PEX19	ORPHA:772
HP:0000518	Cataract	5824	PEX19	ORPHA:44
HP:0000518	Cataract	5824	PEX19	ORPHA:912
HP:0000518	Cataract	5828	PEX2	ORPHA:772
HP:0000518	Cataract	5828	PEX2	OMIM:614866
HP:0000518	Cataract	5828	PEX2	ORPHA:44
HP:0000518	Cataract	5828	PEX2	ORPHA:912
HP:0000518	Cataract	9409	PEX16	ORPHA:772
HP:0000518	Cataract	9409	PEX16	OMIM:614877
HP:0000518	Cataract	9409	PEX16	OMIM:614876
HP:0000518	Cataract	9409	PEX16	ORPHA:44
HP:0000518	Cataract	9409	PEX16	ORPHA:912
HP:0000518	Cataract	5190	PEX6	ORPHA:772
HP:0000518	Cataract	5190	PEX6	ORPHA:44
HP:0000518	Cataract	5190	PEX6	ORPHA:912
HP:0000518	Cataract	8799	PEX11B	ORPHA:772
HP:0000518	Cataract	8799	PEX11B	ORPHA:44
HP:0000518	Cataract	8799	PEX11B	ORPHA:912
HP:0000518	Cataract	5193	PEX12	ORPHA:772
HP:0000518	Cataract	5193	PEX12	ORPHA:44
HP:0000518	Cataract	5193	PEX12	ORPHA:912
HP:0000518	Cataract	5194	PEX13	ORPHA:772
HP:0000518	Cataract	5194	PEX13	ORPHA:44
HP:0000518	Cataract	5194	PEX13	OMIM:614885
HP:0000518	Cataract	5194	PEX13	ORPHA:912
HP:0000518	Cataract	5195	PEX14	ORPHA:772
HP:0000518	Cataract	5195	PEX14	ORPHA:44
HP:0000518	Cataract	5195	PEX14	ORPHA:912
HP:0000518	Cataract	5192	PEX10	ORPHA:772
HP:0000518	Cataract	5192	PEX10	ORPHA:44
HP:0000518	Cataract	5192	PEX10	ORPHA:912
HP:0000518	Cataract	7490	WT1	ORPHA:893
HP:0000518	Cataract	7490	WT1	OMIM:106210
HP:0000518	Cataract	627	BDNF	ORPHA:893
HP:0000518	Cataract	5264	PHYH	ORPHA:773
HP:0000518	Cataract	5264	PHYH	OMIM:266500
HP:0000518	Cataract	5191	PEX7	ORPHA:773
HP:0000518	Cataract	5191	PEX7	OMIM:614879
HP:0000518	Cataract	5191	PEX7	OMIM:266500
HP:0000518	Cataract	1499	CTNNB1	ORPHA:891
HP:0000518	Cataract	23554	TSPAN12	ORPHA:891
HP:0000518	Cataract	8322	FZD4	ORPHA:891
HP:0000518	Cataract	8322	FZD4	ORPHA:90050
HP:0000518	Cataract	8322	FZD4	ORPHA:91495
HP:0000518	Cataract	26137	ZBTB20	ORPHA:3042
HP:0000518	Cataract	10084	PQBP1	OMIM:309500
HP:0000518	Cataract	1315	COPB1	OMIM:619255
HP:0000518	Cataract	284058	KANSL1	OMIM:610443
HP:0000518	Cataract	5557	PRIM1	OMIM:620005
HP:0000518	Cataract	23418	CRB1	OMIM:613835
HP:0000518	Cataract	23418	CRB1	ORPHA:65
HP:0000518	Cataract	10295	BCKDK	OMIM:614923
HP:0000518	Cataract	2271	FH	ORPHA:523
HP:0000518	Cataract	5076	PAX2	OMIM:120330
HP:0000518	Cataract	64802	NMNAT1	OMIM:619260
HP:0000518	Cataract	64802	NMNAT1	ORPHA:65
HP:0000518	Cataract	55181	SMG8	OMIM:619268
HP:0000518	Cataract	87178	PNPT1	OMIM:614932
HP:0000518	Cataract	161742	SPRED1	ORPHA:137605
HP:0000518	Cataract	1462	VCAN	OMIM:143200
HP:0000518	Cataract	26146	TRAF3IP1	ORPHA:3156
HP:0000518	Cataract	9657	IQCB1	ORPHA:3156
HP:0000518	Cataract	9657	IQCB1	ORPHA:65
HP:0000518	Cataract	27130	INVS	ORPHA:3156
HP:0000518	Cataract	261734	NPHP4	ORPHA:3156
HP:0000518	Cataract	57728	WDR19	ORPHA:3156
HP:0000518	Cataract	57728	WDR19	OMIM:614376
HP:0000518	Cataract	27031	NPHP3	ORPHA:3156
HP:0000518	Cataract	22897	CEP164	ORPHA:3156
HP:0000518	Cataract	9987	HNRNPDL	OMIM:609115
HP:0000518	Cataract	80036	TRPM3	OMIM:620253
HP:0000518	Cataract	6309	SC5D	ORPHA:46059
HP:0000518	Cataract	6309	SC5D	OMIM:607330
HP:0000518	Cataract	3560	IL2RB	ORPHA:85410
HP:0000518	Cataract	79722	ANKRD55	ORPHA:85410
HP:0000518	Cataract	26191	PTPN22	ORPHA:85410
HP:0000518	Cataract	26191	PTPN22	ORPHA:3437
HP:0000518	Cataract	919	CD247	ORPHA:85410
HP:0000518	Cataract	3559	IL2RA	ORPHA:85410
HP:0000518	Cataract	5771	PTPN2	ORPHA:85410
HP:0000518	Cataract	83700	JAM3	OMIM:613730
HP:0000518	Cataract	652	BMP4	ORPHA:828
HP:0000518	Cataract	652	BMP4	ORPHA:139471
HP:0000518	Cataract	1593	CYP27A1	OMIM:213700
HP:0000518	Cataract	6010	RHO	OMIM:613731
HP:0000518	Cataract	80207	OPA3	OMIM:165300
HP:0000518	Cataract	80207	OPA3	ORPHA:67036
HP:0000518	Cataract	4758	NEU1	OMIM:256550
HP:0000518	Cataract	4758	NEU1	ORPHA:93399
HP:0000518	Cataract	4758	NEU1	ORPHA:812
HP:0000518	Cataract	4758	NEU1	ORPHA:93400
HP:0000518	Cataract	9839	ZEB2	OMIM:235730
HP:0000518	Cataract	9839	ZEB2	ORPHA:261552
HP:0000518	Cataract	9839	ZEB2	ORPHA:261537
HP:0000518	Cataract	64324	NSD1	ORPHA:821
HP:0000518	Cataract	10297	APC2	ORPHA:821
HP:0000518	Cataract	9401	RECQL4	OMIM:268400
HP:0000518	Cataract	55112	DYNC2I1	ORPHA:93271
HP:0000518	Cataract	57560	IFT80	ORPHA:93271
HP:0000518	Cataract	57539	WDR35	ORPHA:93271
HP:0000518	Cataract	79659	DYNC2H1	ORPHA:93271
HP:0000518	Cataract	89891	DYNC2I2	ORPHA:93271
HP:0000518	Cataract	4016	LOXL1	OMIM:177650
HP:0000518	Cataract	8443	GNPAT	OMIM:222765
HP:0000518	Cataract	9442	MED27	OMIM:619286
HP:0000518	Cataract	23600	AMACR	ORPHA:79095
HP:0000518	Cataract	23600	AMACR	OMIM:614307
HP:0000518	Cataract	56623	INPP5E	ORPHA:75858
HP:0000518	Cataract	56623	INPP5E	OMIM:610156
HP:0000518	Cataract	1717	DHCR7	ORPHA:818
HP:0000518	Cataract	1717	DHCR7	OMIM:270400
HP:0000518	Cataract	25782	RAB3GAP2	OMIM:212720
HP:0000518	Cataract	25782	RAB3GAP2	ORPHA:1387
HP:0000518	Cataract	25782	RAB3GAP2	OMIM:614225
HP:0000518	Cataract	25782	RAB3GAP2	ORPHA:401830
HP:0000518	Cataract	25782	RAB3GAP2	ORPHA:2510
HP:0000518	Cataract	29072	SETD2	OMIM:620157
HP:0000518	Cataract	29072	SETD2	OMIM:620155
HP:0000518	Cataract	30061	SLC40A1	OMIM:606069
HP:0000518	Cataract	4038	LRP4	ORPHA:3258
HP:0000518	Cataract	324	APC	ORPHA:3258
HP:0000518	Cataract	4072	EPCAM	ORPHA:92050
HP:0000518	Cataract	105371045	PERCC1	ORPHA:92050
HP:0000518	Cataract	4509	MT-ATP8	ORPHA:254913
HP:0000518	Cataract	514	ATP5F1E	ORPHA:254913
HP:0000518	Cataract	513	ATP5F1D	ORPHA:254913
HP:0000518	Cataract	498	ATP5F1A	ORPHA:254913
HP:0000518	Cataract	4508	MT-ATP6	ORPHA:254913
HP:0000518	Cataract	84833	ATP5MK	ORPHA:254913
HP:0000518	Cataract	91647	ATPAF2	ORPHA:254913
HP:0000518	Cataract	1716	DGUOK	ORPHA:329314
HP:0000518	Cataract	284252	KCTD1	ORPHA:2036
HP:0000518	Cataract	284252	KCTD1	OMIM:181270
HP:0000518	Cataract	93627	TBCK	OMIM:616900
HP:0000518	Cataract	5015	OTX2	OMIM:610125
HP:0000518	Cataract	7555	CNBP	ORPHA:606
HP:0000518	Cataract	55107	ANO1	OMIM:620045
HP:0000518	Cataract	672	BRCA1	ORPHA:84
HP:0000518	Cataract	10459	MAD2L2	ORPHA:84
HP:0000518	Cataract	7516	XRCC2	ORPHA:84
HP:0000518	Cataract	29089	UBE2T	ORPHA:84
HP:0000518	Cataract	675	BRCA2	ORPHA:84
HP:0000518	Cataract	55120	FANCL	ORPHA:84
HP:0000518	Cataract	2177	FANCD2	ORPHA:84
HP:0000518	Cataract	2175	FANCA	ORPHA:84
HP:0000518	Cataract	2187	FANCB	ORPHA:84
HP:0000518	Cataract	2176	FANCC	ORPHA:84
HP:0000518	Cataract	2178	FANCE	ORPHA:84
HP:0000518	Cataract	2188	FANCF	ORPHA:84
HP:0000518	Cataract	2189	FANCG	ORPHA:84
HP:0000518	Cataract	5888	RAD51	ORPHA:84
HP:0000518	Cataract	5889	RAD51C	ORPHA:84
HP:0000518	Cataract	55159	RFWD3	ORPHA:84
HP:0000518	Cataract	83990	BRIP1	ORPHA:84
HP:0000518	Cataract	57697	FANCM	ORPHA:84
HP:0000518	Cataract	79728	PALB2	ORPHA:84
HP:0000518	Cataract	84464	SLX4	ORPHA:84
HP:0000518	Cataract	55215	FANCI	ORPHA:84
HP:0000518	Cataract	7466	WFS1	OMIM:222300
HP:0000518	Cataract	55697	VAC14	ORPHA:3472
HP:0000518	Cataract	9184	BUB3	ORPHA:1052
HP:0000518	Cataract	699	BUB1	ORPHA:1052
HP:0000518	Cataract	9702	CEP57	ORPHA:1052
HP:0000518	Cataract	9319	TRIP13	ORPHA:1052
HP:0000518	Cataract	701	BUB1B	ORPHA:1052
HP:0000518	Cataract	701	BUB1B	OMIM:257300
HP:0000518	Cataract	26090	ABHD12	OMIM:612674
HP:0000518	Cataract	60	ACTB	OMIM:607371
HP:0000518	Cataract	60	ACTB	ORPHA:79107
HP:0000518	Cataract	2301	FOXE3	OMIM:610256
HP:0000518	Cataract	55636	CHD7	OMIM:214800
HP:0000518	Cataract	57167	SALL4	ORPHA:959
HP:0000518	Cataract	57167	SALL4	OMIM:607323
HP:0000518	Cataract	23424	TDRD7	OMIM:613887
HP:0000518	Cataract	25942	SIN3A	OMIM:613406
HP:0000518	Cataract	3782	KCNN3	ORPHA:3473
HP:0000518	Cataract	4853	NOTCH2	ORPHA:955
HP:0000518	Cataract	374393	FAM111B	OMIM:615704
HP:0000518	Cataract	1174	AP1S1	OMIM:609313
HP:0000518	Cataract	26227	PHGDH	OMIM:256520
HP:0000518	Cataract	7840	ALMS1	ORPHA:64
HP:0000518	Cataract	343035	RD3	ORPHA:65
HP:0000518	Cataract	145226	RDH12	ORPHA:65
HP:0000518	Cataract	10383	TUBB4B	ORPHA:65
HP:0000518	Cataract	85015	USP45	ORPHA:65
HP:0000518	Cataract	5130	PCYT1A	ORPHA:65
HP:0000518	Cataract	392255	GDF6	ORPHA:65
HP:0000518	Cataract	23746	AIPL1	ORPHA:65
HP:0000518	Cataract	9227	LRAT	ORPHA:65
HP:0000518	Cataract	55812	SPATA7	ORPHA:65
HP:0000518	Cataract	7287	TULP1	ORPHA:65
HP:0000518	Cataract	167691	LCA5	ORPHA:65
HP:0000518	Cataract	3614	IMPDH1	ORPHA:65
HP:0000518	Cataract	91754	NEK9	ORPHA:64754
HP:0000518	Cataract	10908	PNPLA6	ORPHA:2377
HP:0000518	Cataract	6804	STX1A	ORPHA:904
HP:0000518	Cataract	7461	CLIP2	ORPHA:904
HP:0000518	Cataract	84277	DNAJC30	ORPHA:904
HP:0000518	Cataract	8468	FKBP6	ORPHA:904
HP:0000518	Cataract	5982	RFC2	ORPHA:904
HP:0000518	Cataract	2969	GTF2I	ORPHA:904
HP:0000518	Cataract	3984	LIMK1	ORPHA:904
HP:0000518	Cataract	9569	GTF2IRD1	ORPHA:904
HP:0000518	Cataract	155382	VPS37D	ORPHA:904
HP:0000518	Cataract	155368	METTL27	ORPHA:904
HP:0000518	Cataract	114049	BUD23	ORPHA:904
HP:0000518	Cataract	7458	EIF4H	ORPHA:904
HP:0000518	Cataract	84163	GTF2IRD2	ORPHA:904
HP:0000518	Cataract	26608	TBL2	ORPHA:904
HP:0000518	Cataract	653361	NCF1	ORPHA:904
HP:0000518	Cataract	135886	TMEM270	ORPHA:904
HP:0000518	Cataract	9031	BAZ1B	ORPHA:904
HP:0000518	Cataract	2006	ELN	ORPHA:904
HP:0000518	Cataract	2073	ERCC5	OMIM:278780
HP:0000518	Cataract	2073	ERCC5	ORPHA:910
HP:0000518	Cataract	2073	ERCC5	ORPHA:1466
HP:0000518	Cataract	11128	POLR3A	OMIM:264090
HP:0000518	Cataract	11128	POLR3A	ORPHA:3455
HP:0000518	Cataract	157570	ESCO2	ORPHA:3103
HP:0000518	Cataract	157570	ESCO2	OMIM:268300
HP:0000518	Cataract	55719	SLF2	OMIM:620184
HP:0000518	Cataract	4036	LRP2	OMIM:222448
HP:0000518	Cataract	402	ARL2	OMIM:619082
HP:0000518	Cataract	4094	MAF	ORPHA:1272
HP:0000518	Cataract	4094	MAF	ORPHA:1377
HP:0000518	Cataract	4089	SMAD4	OMIM:139210
HP:0000518	Cataract	4089	SMAD4	ORPHA:2588
HP:0000518	Cataract	2934	GSN	ORPHA:85448
HP:0000518	Cataract	2934	GSN	OMIM:105120
HP:0000518	Cataract	81887	LAS1L	ORPHA:3459
HP:0000518	Cataract	55869	HDAC8	ORPHA:3459
HP:0000518	Cataract	55869	HDAC8	ORPHA:199
HP:0000518	Cataract	182	JAG1	OMIM:118450
HP:0000518	Cataract	5336	PLCG2	OMIM:614878
HP:0000518	Cataract	10165	SLC25A13	ORPHA:247598
HP:0000518	Cataract	3178	HNRNPA1	ORPHA:52430
HP:0000518	Cataract	7415	VCP	ORPHA:52430
HP:0000518	Cataract	3181	HNRNPA2B1	ORPHA:52430
HP:0000518	Cataract	7837	PXDN	OMIM:269400
HP:0000518	Cataract	55129	ANO10	ORPHA:284289
HP:0000518	Cataract	5295	PIK3R1	OMIM:269880
HP:0000518	Cataract	170691	ADAMTS17	ORPHA:3449
HP:0000518	Cataract	4053	LTBP2	ORPHA:3449
HP:0000518	Cataract	4088	SMAD3	OMIM:613795
HP:0000518	Cataract	50628	GEMIN4	OMIM:617913
HP:0000518	Cataract	81846	SBF2	ORPHA:99956
HP:0000518	Cataract	3954	LETM1	OMIM:620089
HP:0000518	Cataract	3166	HMX1	OMIM:612109
HP:0000518	Cataract	2703	GJA8	OMIM:612474
HP:0000518	Cataract	2703	GJA8	ORPHA:1377
HP:0000518	Cataract	2702	GJA5	OMIM:612474
HP:0000518	Cataract	1413	CRYBA4	ORPHA:1377
HP:0000518	Cataract	1415	CRYBB2	ORPHA:1377
HP:0000518	Cataract	1414	CRYBB1	ORPHA:1377
HP:0000518	Cataract	1420	CRYGC	ORPHA:1377
HP:0000518	Cataract	1421	CRYGD	ORPHA:1377
HP:0000518	Cataract	1297	COL9A1	ORPHA:250984
HP:0000518	Cataract	1297	COL9A1	OMIM:614134
HP:0000518	Cataract	1299	COL9A3	ORPHA:250984
HP:0000518	Cataract	7507	XPA	ORPHA:910
HP:0000518	Cataract	7508	XPC	ORPHA:910
HP:0000518	Cataract	1643	DDB2	ORPHA:910
HP:0000518	Cataract	1288	COL4A6	ORPHA:1018
HP:0000518	Cataract	1287	COL4A5	ORPHA:1018
HP:0000518	Cataract	9158	FIBP	ORPHA:500095
HP:0000518	Cataract	9420	CYP7B1	ORPHA:100986
HP:0000518	Cataract	9420	CYP7B1	OMIM:270800
HP:0000518	Cataract	4047	LSS	ORPHA:1366
HP:0000518	Cataract	2584	GALK1	OMIM:230200
HP:0000518	Cataract	2584	GALK1	ORPHA:79237
HP:0000518	Cataract	55605	KIF21A	ORPHA:45358
HP:0000518	Cataract	7846	TUBA1A	ORPHA:45358
HP:0000518	Cataract	401	PHOX2A	ORPHA:45358
HP:0000518	Cataract	10381	TUBB3	ORPHA:45358
HP:0000518	Cataract	84570	COL25A1	ORPHA:45358
HP:0000518	Cataract	10586	MAB21L2	OMIM:615877
HP:0000518	Cataract	7473	WNT3	ORPHA:3301
HP:0000518	Cataract	7473	WNT3	OMIM:273395
HP:0000518	Cataract	340419	RSPO2	ORPHA:3301
HP:0000518	Cataract	9496	TBX4	ORPHA:3301
HP:0000518	Cataract	26007	TKFC	ORPHA:1369
HP:0000518	Cataract	26007	TKFC	OMIM:618805
HP:0000518	Cataract	4010	LMX1B	OMIM:161200
HP:0000518	Cataract	83552	MFRP	OMIM:611040
HP:0000518	Cataract	84162	BLTP1	OMIM:617822
HP:0000518	Cataract	3313	HSPA9	OMIM:616854
HP:0000518	Cataract	22880	MORC2	ORPHA:466768
HP:0000518	Cataract	5831	PYCR1	OMIM:614438
HP:0000518	Cataract	387700	SLC16A12	OMIM:612018
HP:0000518	Cataract	4000	LMNA	ORPHA:90153
HP:0000518	Cataract	8671	SLC4A4	OMIM:604278
HP:0000518	Cataract	7283	TUBG1	OMIM:615412
HP:0000518	Cataract	2067	ERCC1	ORPHA:1466
HP:0000518	Cataract	5925	RB1	ORPHA:1587
HP:0000518	Cataract	2248	FGF3	ORPHA:2791
HP:0000518	Cataract	1063	CENPF	OMIM:243605
HP:0000518	Cataract	10804	GJB6	OMIM:129500
HP:0000518	Cataract	7045	TGFBI	OMIM:121900
HP:0000518	Cataract	5745	PTH1R	ORPHA:50945
HP:0000518	Cataract	338917	VSX2	OMIM:610092
HP:0000518	Cataract	8985	PLOD3	OMIM:612394
HP:0000518	Cataract	175	AGA	OMIM:208400
HP:0000518	Cataract	80781	COL18A1	ORPHA:1571
HP:0000518	Cataract	5062	PAK2	ORPHA:1571
HP:0000518	Cataract	139285	AMER1	ORPHA:2780
HP:0000518	Cataract	2313	FLI1	ORPHA:2308
HP:0000518	Cataract	23476	BRD4	ORPHA:199
HP:0000518	Cataract	9126	SMC3	ORPHA:199
HP:0000518	Cataract	8243	SMC1A	ORPHA:199
HP:0000518	Cataract	6878	TAF6	ORPHA:199
HP:0000518	Cataract	25836	NIPBL	ORPHA:199
HP:0000518	Cataract	5885	RAD21	ORPHA:199
HP:0000518	Cataract	7399	USH2A	ORPHA:231178
HP:0000518	Cataract	79955	PDZD7	ORPHA:231178
HP:0000518	Cataract	4647	MYO7A	ORPHA:231178
HP:0000518	Cataract	4647	MYO7A	ORPHA:231169
HP:0000518	Cataract	25861	WHRN	ORPHA:231178
HP:0000518	Cataract	84059	ADGRV1	ORPHA:231178
HP:0000518	Cataract	6197	RPS6KA3	ORPHA:192
HP:0000518	Cataract	9150	CTDP1	ORPHA:48431
HP:0000518	Cataract	8092	ALX1	ORPHA:306542
HP:0000518	Cataract	2296	FOXC1	ORPHA:250923
HP:0000518	Cataract	22931	RAB18	OMIM:614222
HP:0000518	Cataract	22931	RAB18	ORPHA:2510
HP:0000518	Cataract	4329	ALDH6A1	OMIM:614105
HP:0000518	Cataract	3704	ITPA	OMIM:616647
HP:0000518	Cataract	4796	TONSL	ORPHA:93357
HP:0000518	Cataract	28957	MRPS28	OMIM:618958
HP:0000518	Cataract	3832	KIF11	ORPHA:2526
HP:0000518	Cataract	3832	KIF11	OMIM:152950
HP:0000518	Cataract	54676	GTPBP2	OMIM:617988
HP:0000518	Cataract	100506658	OCLN	OMIM:251290
HP:0000518	Cataract	617	BCS1L	OMIM:124000
HP:0000518	Cataract	7401	CLRN1	ORPHA:231183
HP:0000518	Cataract	22901	ARSG	ORPHA:231183
HP:0000518	Cataract	4575	MT-TS2	ORPHA:231183
HP:0000518	Cataract	3035	HARS1	ORPHA:231183
HP:0000518	Cataract	84131	CEP78	ORPHA:231183
HP:0000518	Cataract	10558	SPTLC1	OMIM:162400
HP:0000518	Cataract	1376	CPT2	OMIM:608836
HP:0000518	Cataract	7518	XRCC4	OMIM:616541
HP:0000518	Cataract	59341	TRPV4	ORPHA:2635
HP:0000518	Cataract	387	RHOA	OMIM:618727
HP:0000518	Cataract	4668	NAGA	ORPHA:79281
HP:0000518	Cataract	9939	RBM8A	OMIM:274000
HP:0000518	Cataract	1302	COL11A2	ORPHA:1427
HP:0000518	Cataract	128637	TBC1D20	ORPHA:2510
HP:0000518	Cataract	9130	FAM50A	OMIM:300261
HP:0000518	Cataract	64072	CDH23	ORPHA:231169
HP:0000518	Cataract	10083	USH1C	ORPHA:231169
HP:0000518	Cataract	124590	USH1G	ORPHA:231169
HP:0000518	Cataract	83715	ESPN	ORPHA:231169
HP:0000518	Cataract	10518	CIB2	ORPHA:231169
HP:0000518	Cataract	65217	PCDH15	ORPHA:231169
HP:0000518	Cataract	7543	ZFX	OMIM:301118
HP:0000518	Cataract	80169	CTC1	ORPHA:1775
HP:0000518	Cataract	26277	TINF2	ORPHA:1775
HP:0000518	Cataract	55651	NHP2	ORPHA:1775
HP:0000518	Cataract	79650	USB1	ORPHA:1775
HP:0000518	Cataract	55135	WRAP53	ORPHA:1775
HP:0000518	Cataract	51750	RTEL1	ORPHA:1775
HP:0000518	Cataract	4869	NPM1	ORPHA:1775
HP:0000518	Cataract	7012	TERC	ORPHA:1775
HP:0000518	Cataract	5073	PARN	ORPHA:1775
HP:0000518	Cataract	7015	TERT	ORPHA:1775
HP:0000518	Cataract	7298	TYMS	ORPHA:1775
HP:0000518	Cataract	51763	INPP5K	OMIM:617404
HP:0000518	Cataract	85378	TUBGCP6	OMIM:251270
HP:0000518	Cataract	523	ATP6V1A	OMIM:617403
HP:0000518	Cataract	27183	VPS4A	OMIM:619273
HP:0000518	Cataract	406987	MIR204	OMIM:616722
HP:0000518	Cataract	55654	TMEM127	OMIM:171300
HP:0000518	Cataract	5979	RET	OMIM:171300
HP:0000518	Cataract	7428	VHL	OMIM:171300
HP:0000518	Cataract	79903	NAA60	OMIM:620786
HP:0000518	Cataract	1417	CRYBB3	OMIM:609741
HP:0000518	Cataract	10093	ARPC4	OMIM:620141
HP:0000518	Cataract	1411	CRYBA1	OMIM:600881
HP:0000518	Cataract	23094	SIPA1L3	OMIM:616851
HP:0000518	Cataract	10073	SNUPN	OMIM:620793
HP:0000518	Cataract	3417	IDH1	ORPHA:99646
HP:0000518	Cataract	4574	MT-TS1	OMIM:540000
HP:0000518	Cataract	4535	MT-ND1	OMIM:540000
HP:0000518	Cataract	4567	MT-TL1	OMIM:540000
HP:0000518	Cataract	4512	MT-CO1	OMIM:540000
HP:0000518	Cataract	4513	MT-CO2	OMIM:540000
HP:0000518	Cataract	4514	MT-CO3	OMIM:540000
HP:0000518	Cataract	4519	MT-CYB	OMIM:540000
HP:0000518	Cataract	4511	MT-TC	OMIM:540000
HP:0000518	Cataract	4572	MT-TQ	OMIM:540000
HP:0000518	Cataract	4577	MT-TV	OMIM:540000
HP:0000518	Cataract	4578	MT-TW	OMIM:540000
HP:0000518	Cataract	4558	MT-TF	OMIM:540000
HP:0000518	Cataract	4566	MT-TK	OMIM:540000
HP:0000518	Cataract	4540	MT-ND5	OMIM:540000
HP:0000518	Cataract	4541	MT-ND6	OMIM:540000
HP:0000518	Cataract	57589	RIC1	OMIM:618761
HP:0000518	Cataract	23511	NUP188	OMIM:618804
HP:0000518	Cataract	20	ABCA2	OMIM:618808
HP:0000518	Cataract	22872	SEC31A	OMIM:618651
HP:0000518	Cataract	84668	HYCC1	OMIM:610532
HP:0000518	Cataract	84668	HYCC1	ORPHA:85163
HP:0000518	Cataract	1969	EPHA2	OMIM:116600
HP:0000518	Cataract	5702	PSMC3	OMIM:619354
HP:0000518	Cataract	389692	MAFA	OMIM:147630
HP:0000518	Cataract	9894	TELO2	ORPHA:488642
HP:0000518	Cataract	8419	BFSP2	OMIM:611597
HP:0000518	Cataract	84992	PIGY	OMIM:616809
HP:0000518	Cataract	23137	SMC5	OMIM:620185
HP:0000518	Cataract	79813	EHMT1	ORPHA:261652
HP:0000518	Cataract	58508	KMT2C	ORPHA:261652
HP:0000518	Cataract	953	ENTPD1	OMIM:615683
HP:0000518	Cataract	2651	GCNT2	OMIM:116700
HP:0000518	Cataract	3739	KCNA4	OMIM:618284
HP:0000518	Cataract	9197	SLC33A1	OMIM:614482
HP:0000518	Cataract	5286	PIK3C2A	OMIM:618440
HP:0000518	Cataract	5286	PIK3C2A	ORPHA:557003
HP:0000518	Cataract	10516	FBLN5	ORPHA:90348
HP:0000518	Cataract	63901	FAM111A	OMIM:127000
HP:0000518	Cataract	63901	FAM111A	ORPHA:93325
HP:0000518	Cataract	833	CARS1	ORPHA:33364
HP:0000518	Cataract	7737	RNF113A	ORPHA:33364
HP:0000518	Cataract	136647	MPLKIP	ORPHA:33364
HP:0000518	Cataract	6897	TARS1	ORPHA:33364
HP:0000518	Cataract	16	AARS1	ORPHA:33364
HP:0000518	Cataract	2961	GTF2E2	ORPHA:33364
HP:0000518	Cataract	6138	RPL15	ORPHA:124
HP:0000518	Cataract	6224	RPS20	ORPHA:124
HP:0000518	Cataract	6165	RPL35A	ORPHA:124
HP:0000518	Cataract	6132	RPL8	ORPHA:124
HP:0000518	Cataract	6223	RPS19	ORPHA:124
HP:0000518	Cataract	6232	RPS27	ORPHA:124
HP:0000518	Cataract	55027	HEATR3	ORPHA:124
HP:0000518	Cataract	6160	RPL31	ORPHA:124
HP:0000518	Cataract	6201	RPS7	ORPHA:124
HP:0000518	Cataract	6155	RPL27	ORPHA:124
HP:0000518	Cataract	6234	RPS28	ORPHA:124
HP:0000518	Cataract	6135	RPL11	ORPHA:124
HP:0000518	Cataract	6229	RPS24	ORPHA:124
HP:0000518	Cataract	6125	RPL5	ORPHA:124
HP:0000518	Cataract	6204	RPS10	ORPHA:124
HP:0000518	Cataract	2623	GATA1	ORPHA:124
HP:0000518	Cataract	6133	RPL9	ORPHA:124
HP:0000518	Cataract	6231	RPS26	ORPHA:124
HP:0000518	Cataract	11224	RPL35	ORPHA:124
HP:0000518	Cataract	6218	RPS17	ORPHA:124
HP:0000518	Cataract	6154	RPL26	ORPHA:124
HP:0000518	Cataract	6210	RPS15A	ORPHA:124
HP:0000518	Cataract	90121	TSR2	ORPHA:124
HP:0000518	Cataract	6141	RPL18	ORPHA:124
HP:0000518	Cataract	6235	RPS29	ORPHA:124
HP:0000518	Cataract	51816	ADA2	ORPHA:124
HP:0000518	Cataract	1419	CRYGB	OMIM:615188
HP:0000518	Cataract	7319	UBE2A	ORPHA:163956
HP:0000518	Cataract	6307	MSMO1	OMIM:616834
HP:0000518	Cataract	7439	BEST1	OMIM:193220
HP:0000518	Cataract	2110	ETFDH	OMIM:231680
HP:0000518	Cataract	2108	ETFA	OMIM:231680
HP:0000518	Cataract	2109	ETFB	OMIM:231680
HP:0000518	Cataract	84181	CHD6	ORPHA:2108
HP:0000518	Cataract	64682	ANAPC1	ORPHA:221008
HP:0000518	Cataract	51099	ABHD5	ORPHA:98907
HP:0000518	Cataract	51099	ABHD5	OMIM:275630
HP:0000518	Cataract	10594	PRPF8	OMIM:600059
HP:0000518	Cataract	1545	CYP1B1	ORPHA:708
HP:0000518	Cataract	5308	PITX2	ORPHA:708
HP:0000518	Cataract	9445	ITM2B	OMIM:117300
HP:0000518	Cataract	7431	VIM	OMIM:116300
HP:0000518	Cataract	4204	MECP2	OMIM:300055
HP:0000518	Cataract	23394	ADNP	ORPHA:404448
HP:0000518	Cataract	7053	TGM3	OMIM:617251
HP:0000518	Cataract	221496	LEMD2	OMIM:212500
HP:0000518	Cataract	9653	HS2ST1	OMIM:619194
HP:0000518	Cataract	57551	TAOK1	OMIM:619575
HP:0000518	Cataract	406960	MIR184	OMIM:614303
HP:0000518	Cataract	1285	COL4A3	OMIM:104200
HP:0000518	Cataract	51163	DBR1	OMIM:620510
HP:0000518	Cataract	10484	SEC23A	OMIM:607812
HP:0000518	Cataract	3982	LIM2	OMIM:615277
HP:0000518	Cataract	346007	EYS	OMIM:602772
HP:0000518	Cataract	346007	EYS	ORPHA:791
HP:0000518	Cataract	92840	REEP6	ORPHA:791
HP:0000518	Cataract	92840	REEP6	OMIM:617304
HP:0000518	Cataract	6094	ROM1	ORPHA:791
HP:0000518	Cataract	6017	RLBP1	ORPHA:791
HP:0000518	Cataract	24	ABCA4	ORPHA:791
HP:0000518	Cataract	130557	ZNF513	ORPHA:791
HP:0000518	Cataract	92211	CDHR1	ORPHA:791
HP:0000518	Cataract	23568	ARL2BP	ORPHA:791
HP:0000518	Cataract	23568	ARL2BP	OMIM:615434
HP:0000518	Cataract	54806	AHI1	ORPHA:791
HP:0000518	Cataract	6101	RP1	ORPHA:791
HP:0000518	Cataract	3419	IDH3A	ORPHA:791
HP:0000518	Cataract	4751	NEK2	ORPHA:791
HP:0000518	Cataract	8100	IFT88	ORPHA:791
HP:0000518	Cataract	23020	SNRNP200	ORPHA:791
HP:0000518	Cataract	762	CA4	ORPHA:791
HP:0000518	Cataract	138050	HGSNAT	ORPHA:791
HP:0000518	Cataract	196	AHR	ORPHA:791
HP:0000518	Cataract	6103	RPGR	ORPHA:791
HP:0000518	Cataract	5148	PDE6G	ORPHA:791
HP:0000518	Cataract	26121	PRPF31	ORPHA:791
HP:0000518	Cataract	4117	MAK	ORPHA:791
HP:0000518	Cataract	25794	FSCN2	ORPHA:791
HP:0000518	Cataract	375298	CERKL	ORPHA:791
HP:0000518	Cataract	3420	IDH3B	ORPHA:791
HP:0000518	Cataract	3420	IDH3B	OMIM:612572
HP:0000518	Cataract	57670	KIAA1549	ORPHA:791
HP:0000518	Cataract	7275	TUB	ORPHA:791
HP:0000518	Cataract	24148	PRPF6	ORPHA:791
HP:0000518	Cataract	24148	PRPF6	OMIM:613983
HP:0000518	Cataract	10461	MERTK	ORPHA:791
HP:0000518	Cataract	57709	SLC7A14	ORPHA:791
HP:0000518	Cataract	768206	PRCD	ORPHA:791
HP:0000518	Cataract	23370	ARHGEF18	ORPHA:791
HP:0000518	Cataract	5949	RBP3	ORPHA:791
HP:0000518	Cataract	5949	RBP3	OMIM:615233
HP:0000518	Cataract	84140	FAM161A	ORPHA:791
HP:0000518	Cataract	403	ARL3	ORPHA:791
HP:0000518	Cataract	403	ARL3	OMIM:618173
HP:0000518	Cataract	5145	PDE6A	ORPHA:791
HP:0000518	Cataract	5145	PDE6A	OMIM:613810
HP:0000518	Cataract	10210	TOPORS	ORPHA:791
HP:0000518	Cataract	8842	PROM1	ORPHA:791
HP:0000518	Cataract	9128	PRPF4	ORPHA:791
HP:0000518	Cataract	50939	IMPG2	ORPHA:791
HP:0000518	Cataract	50939	IMPG2	OMIM:613581
HP:0000518	Cataract	8481	OFD1	ORPHA:791
HP:0000518	Cataract	8481	OFD1	OMIM:300424
HP:0000518	Cataract	2979	GUCA1B	ORPHA:791
HP:0000518	Cataract	1259	CNGA1	ORPHA:791
HP:0000518	Cataract	1258	CNGB1	ORPHA:791
HP:0000518	Cataract	60509	AGBL5	ORPHA:791
HP:0000518	Cataract	5961	PRPH2	ORPHA:791
HP:0000518	Cataract	388939	PCARE	ORPHA:791
HP:0000518	Cataract	5995	RGR	ORPHA:791
HP:0000518	Cataract	9129	PRPF3	ORPHA:791
HP:0000518	Cataract	55975	KLHL7	ORPHA:791
HP:0000518	Cataract	3617	IMPG1	ORPHA:791
HP:0000518	Cataract	94137	RP1L1	ORPHA:791
HP:0000518	Cataract	55857	KIZ	ORPHA:791
HP:0000518	Cataract	64218	SEMA4A	ORPHA:791
HP:0000518	Cataract	4901	NRL	ORPHA:791
HP:0000518	Cataract	6295	SAG	ORPHA:791
HP:0000518	Cataract	79947	DHDDS	ORPHA:791
HP:0000518	Cataract	84265	POLR3GL	OMIM:619234
HP:0000518	Cataract	170692	ADAMTS18	OMIM:615458
HP:0000518	Cataract	128866	CHMP4B	OMIM:605387
HP:0000518	Cataract	1121	CHM	ORPHA:180
HP:0000518	Cataract	755	CFAP410	OMIM:617547
HP:0000518	Cataract	146862	UNC45B	OMIM:616279
HP:0000518	Cataract	4627	MYH9	ORPHA:182050
HP:0000518	Cataract	4507	MTAP	OMIM:112250
HP:0000518	Cataract	1427	CRYGS	OMIM:116100
HP:0000518	Cataract	631	BFSP1	OMIM:611391
HP:0000518	Cataract	4284	MIP	OMIM:615274
HP:0000518	Cataract	84816	RTN4IP1	OMIM:616732
HP:0000518	Cataract	35	ACADS	OMIM:201470
HP:0000518	Cataract	3299	HSF4	OMIM:116800
HP:0000518	Cataract	2700	GJA3	OMIM:601885
HP:0000518	Cataract	8314	BAP1	ORPHA:39044
HP:0000518	Cataract	57105	CYSLTR2	ORPHA:39044
HP:0000518	Cataract	2776	GNAQ	ORPHA:39044
HP:0000518	Cataract	2767	GNA11	ORPHA:39044
HP:0000518	Cataract	23451	SF3B1	ORPHA:39044
HP:0000518	Cataract	55229	PANK4	OMIM:619593
HP:0000518	Cataract	2202	EFEMP1	OMIM:611276
HP:0000518	Cataract	10216	PRG4	ORPHA:2848
HP:0000518	Cataract	79443	FYCO1	OMIM:610019
HP:0000518	Cataract	7855	FZD5	OMIM:620731
HP:0000518	Cataract	540	ATP7B	OMIM:277900
HP:0001114	Xanthelasma	3594	IL12RB1	ORPHA:186
HP:0001114	Xanthelasma	23534	TNPO3	ORPHA:186
HP:0001114	Xanthelasma	3592	IL12A	ORPHA:186
HP:0001114	Xanthelasma	6689	SPIB	ORPHA:186
HP:0001114	Xanthelasma	5450	POU2AF1	ORPHA:186
HP:0001114	Xanthelasma	9966	TNFSF15	ORPHA:186
HP:0001114	Xanthelasma	79258	MMEL1	ORPHA:186
HP:0001114	Xanthelasma	3663	IRF5	ORPHA:186
HP:0001114	Xanthelasma	255738	PCSK9	OMIM:603776
HP:0001114	Xanthelasma	5159	PDGFRB	OMIM:616592
HP:0001114	Xanthelasma	6774	STAT3	ORPHA:2314
HP:0001114	Xanthelasma	338	APOB	OMIM:144010
HP:0001114	Xanthelasma	336	APOA2	OMIM:143890
HP:0001114	Xanthelasma	2053	EPHX2	OMIM:143890
HP:0001114	Xanthelasma	10842	PPP1R17	OMIM:143890
HP:0001114	Xanthelasma	3949	LDLR	OMIM:143890
HP:0001114	Xanthelasma	2690	GHR	OMIM:143890
HP:0001114	Xanthelasma	2538	G6PC1	OMIM:232200
HP:0001114	Xanthelasma	1593	CYP27A1	OMIM:213700
HP:0001114	Xanthelasma	4023	LPL	OMIM:144250
HP:0001114	Xanthelasma	7274	TTPA	OMIM:277460
HP:0001114	Xanthelasma	161742	SPRED1	ORPHA:137605
HP:0001114	Xanthelasma	2542	SLC37A4	OMIM:232220
HP:0001114	Xanthelasma	2542	SLC37A4	OMIM:232240
HP:0001114	Xanthelasma	2542	SLC37A4	ORPHA:79259
HP:0001114	Xanthelasma	348	APOE	ORPHA:412
HP:0001114	Xanthelasma	64241	ABCG8	OMIM:210250
HP:0001114	Xanthelasma	335	APOA1	ORPHA:425
HP:0001114	Xanthelasma	19	ABCA1	ORPHA:425
HP:0001115	Posterior polar cataract	5309	PITX3	OMIM:107250
HP:0001115	Posterior polar cataract	1410	CRYAB	OMIM:613763
HP:0001115	Posterior polar cataract	26137	ZBTB20	OMIM:259050
HP:0001115	Posterior polar cataract	9445	ITM2B	OMIM:117300
HP:0001115	Posterior polar cataract	324	APC	ORPHA:261584
HP:0001115	Posterior polar cataract	1969	EPHA2	OMIM:116600
HP:0001115	Posterior polar cataract	583	BBS2	OMIM:616562
HP:0001115	Posterior polar cataract	7431	VIM	OMIM:116300
HP:0001116	Macular coloboma	64802	NMNAT1	OMIM:619260
HP:0001116	Macular coloboma	64802	NMNAT1	OMIM:608553
HP:0001116	Macular coloboma	5631	PRPS1	ORPHA:423479
HP:0001116	Macular coloboma	9227	LRAT	ORPHA:364055
HP:0001116	Macular coloboma	55812	SPATA7	ORPHA:364055
HP:0001116	Macular coloboma	6121	RPE65	ORPHA:364055
HP:0001116	Macular coloboma	167691	LCA5	ORPHA:364055
HP:0001116	Macular coloboma	149461	CLDN19	ORPHA:2196
HP:0001116	Macular coloboma	149461	CLDN19	OMIM:248190
HP:0001116	Macular coloboma	55714	TENM3	OMIM:615145
HP:0001116	Macular coloboma	9785	DHX38	OMIM:618220
HP:0001116	Macular coloboma	25974	MMACHC	ORPHA:79282
HP:0001116	Macular coloboma	23418	CRB1	OMIM:613835
HP:0001117	Sudden loss of visual acuity	64072	CDH23	ORPHA:91347
HP:0001117	Sudden loss of visual acuity	64072	CDH23	ORPHA:2965
HP:0001117	Sudden loss of visual acuity	4221	MEN1	ORPHA:2965
HP:0001117	Sudden loss of visual acuity	9049	AIP	ORPHA:2965
HP:0001117	Sudden loss of visual acuity	1499	CTNNB1	ORPHA:54595
HP:0001117	Sudden loss of visual acuity	673	BRAF	ORPHA:54595
HP:0001118	Juvenile cataract	4204	MECP2	OMIM:300055
HP:0001118	Juvenile cataract	23394	ADNP	ORPHA:404448
HP:0001118	Juvenile cataract	7053	TGM3	OMIM:617251
HP:0001118	Juvenile cataract	84188	FAR1	ORPHA:438178
HP:0001118	Juvenile cataract	6711	SPTBN1	OMIM:619475
HP:0001118	Juvenile cataract	1593	CYP27A1	ORPHA:909
HP:0001118	Juvenile cataract	51109	RDH11	ORPHA:436245
HP:0001118	Juvenile cataract	9401	RECQL4	ORPHA:221016
HP:0001118	Juvenile cataract	112939	NACC1	ORPHA:500545
HP:0001118	Juvenile cataract	221496	LEMD2	OMIM:212500
HP:0001118	Juvenile cataract	64682	ANAPC1	OMIM:618625
HP:0001118	Juvenile cataract	64682	ANAPC1	ORPHA:221008
HP:0001119	Keratoglobus	81031	SLC2A10	ORPHA:3342
HP:0001119	Keratoglobus	11107	PRDM5	OMIM:614170
HP:0001119	Keratoglobus	11107	PRDM5	ORPHA:90354
HP:0001119	Keratoglobus	63895	PIEZO2	OMIM:108145
HP:0001119	Keratoglobus	84627	ZNF469	ORPHA:90354
HP:0001119	Keratoglobus	84627	ZNF469	OMIM:229200
HP:0001120	Abnormality of corneal size	5309	PITX3	OMIM:107250
HP:0001120	Abnormality of corneal size	2074	ERCC6	OMIM:133540
HP:0001120	Abnormality of corneal size	2074	ERCC6	ORPHA:90324
HP:0001120	Abnormality of corneal size	1409	CRYAA	OMIM:604219
HP:0001120	Abnormality of corneal size	1409	CRYAA	ORPHA:1377
HP:0001120	Abnormality of corneal size	6309	SC5D	ORPHA:46059
HP:0001120	Abnormality of corneal size	5351	PLOD1	OMIM:225400
HP:0001120	Abnormality of corneal size	5351	PLOD1	ORPHA:1900
HP:0001120	Abnormality of corneal size	1161	ERCC8	ORPHA:90324
HP:0001120	Abnormality of corneal size	5080	PAX6	ORPHA:2334
HP:0001120	Abnormality of corneal size	5080	PAX6	OMIM:604229
HP:0001120	Abnormality of corneal size	81857	MED25	OMIM:616449
HP:0001120	Abnormality of corneal size	81857	MED25	ORPHA:464738
HP:0001120	Abnormality of corneal size	406960	MIR184	OMIM:614303
HP:0001120	Abnormality of corneal size	145173	B3GLCT	ORPHA:709
HP:0001120	Abnormality of corneal size	10586	MAB21L2	OMIM:615877
HP:0001120	Abnormality of corneal size	4693	NDP	ORPHA:91495
HP:0001120	Abnormality of corneal size	220202	ATOH7	ORPHA:91495
HP:0001120	Abnormality of corneal size	220202	ATOH7	OMIM:221900
HP:0001120	Abnormality of corneal size	8322	FZD4	ORPHA:91495
HP:0001120	Abnormality of corneal size	7473	WNT3	ORPHA:3301
HP:0001120	Abnormality of corneal size	340419	RSPO2	ORPHA:3301
HP:0001120	Abnormality of corneal size	9496	TBX4	ORPHA:3301
HP:0001120	Abnormality of corneal size	9839	ZEB2	OMIM:235730
HP:0001120	Abnormality of corneal size	9839	ZEB2	ORPHA:261552
HP:0001120	Abnormality of corneal size	9401	RECQL4	OMIM:268400
HP:0001120	Abnormality of corneal size	4010	LMX1B	OMIM:161200
HP:0001120	Abnormality of corneal size	10733	PLK4	OMIM:616171
HP:0001120	Abnormality of corneal size	9150	CTDP1	OMIM:604168
HP:0001120	Abnormality of corneal size	9150	CTDP1	ORPHA:48431
HP:0001120	Abnormality of corneal size	89910	UBE3B	OMIM:244450
HP:0001120	Abnormality of corneal size	89910	UBE3B	ORPHA:2707
HP:0001120	Abnormality of corneal size	8085	KMT2D	ORPHA:2322
HP:0001120	Abnormality of corneal size	7403	KDM6A	ORPHA:2322
HP:0001120	Abnormality of corneal size	3149	HMGB3	OMIM:300915
HP:0001120	Abnormality of corneal size	387700	SLC16A12	OMIM:612018
HP:0001120	Abnormality of corneal size	2314	FLII	ORPHA:819
HP:0001120	Abnormality of corneal size	23096	IQSEC2	ORPHA:819
HP:0001120	Abnormality of corneal size	10743	RAI1	ORPHA:819
HP:0001120	Abnormality of corneal size	10522	DEAF1	ORPHA:819
HP:0001120	Abnormality of corneal size	10982	MAPRE2	OMIM:616734
HP:0001120	Abnormality of corneal size	10982	MAPRE2	ORPHA:2505
HP:0001120	Abnormality of corneal size	55033	FKBP14	OMIM:614557
HP:0001120	Abnormality of corneal size	55033	FKBP14	ORPHA:300179
HP:0001120	Abnormality of corneal size	4286	MITF	OMIM:617306
HP:0001120	Abnormality of corneal size	2187	FANCB	ORPHA:3412
HP:0001120	Abnormality of corneal size	84892	POMGNT2	ORPHA:899
HP:0001120	Abnormality of corneal size	148789	B3GALNT2	ORPHA:899
HP:0001120	Abnormality of corneal size	79147	FKRP	ORPHA:899
HP:0001120	Abnormality of corneal size	29954	POMT2	ORPHA:899
HP:0001120	Abnormality of corneal size	9215	LARGE1	ORPHA:899
HP:0001120	Abnormality of corneal size	1282	COL4A1	ORPHA:899
HP:0001120	Abnormality of corneal size	1282	COL4A1	OMIM:175780
HP:0001120	Abnormality of corneal size	729920	CRPPA	ORPHA:899
HP:0001120	Abnormality of corneal size	10329	RXYLT1	ORPHA:899
HP:0001120	Abnormality of corneal size	1605	DAG1	ORPHA:899
HP:0001120	Abnormality of corneal size	11041	B4GAT1	ORPHA:899
HP:0001120	Abnormality of corneal size	10585	POMT1	ORPHA:899
HP:0001120	Abnormality of corneal size	84197	POMK	ORPHA:899
HP:0001120	Abnormality of corneal size	2218	FKTN	ORPHA:899
HP:0001120	Abnormality of corneal size	55624	POMGNT1	ORPHA:899
HP:0001120	Abnormality of corneal size	4810	NHS	OMIM:302350
HP:0001120	Abnormality of corneal size	4810	NHS	ORPHA:627
HP:0001120	Abnormality of corneal size	22930	RAB3GAP1	OMIM:600118
HP:0001120	Abnormality of corneal size	22930	RAB3GAP1	ORPHA:2510
HP:0001120	Abnormality of corneal size	54880	BCOR	ORPHA:2712
HP:0001120	Abnormality of corneal size	54880	BCOR	ORPHA:568
HP:0001120	Abnormality of corneal size	54880	BCOR	OMIM:309800
HP:0001120	Abnormality of corneal size	54880	BCOR	OMIM:300166
HP:0001120	Abnormality of corneal size	5015	OTX2	OMIM:610125
HP:0001120	Abnormality of corneal size	2248	FGF3	ORPHA:2791
HP:0001120	Abnormality of corneal size	1063	CENPF	OMIM:243605
HP:0001120	Abnormality of corneal size	5308	PITX2	OMIM:180500
HP:0001120	Abnormality of corneal size	646960	PRSS56	OMIM:613517
HP:0001120	Abnormality of corneal size	2697	GJA1	ORPHA:2710
HP:0001120	Abnormality of corneal size	2697	GJA1	OMIM:164200
HP:0001120	Abnormality of corneal size	2697	GJA1	OMIM:257850
HP:0001120	Abnormality of corneal size	8260	NAA10	ORPHA:568
HP:0001120	Abnormality of corneal size	8260	NAA10	OMIM:309800
HP:0001120	Abnormality of corneal size	1420	CRYGC	OMIM:604307
HP:0001120	Abnormality of corneal size	1420	CRYGC	ORPHA:1377
HP:0001120	Abnormality of corneal size	84314	TMEM107	ORPHA:564
HP:0001120	Abnormality of corneal size	26123	TCTN3	ORPHA:564
HP:0001120	Abnormality of corneal size	79867	TCTN2	ORPHA:564
HP:0001120	Abnormality of corneal size	80776	B9D2	ORPHA:564
HP:0001120	Abnormality of corneal size	79600	TCTN1	ORPHA:564
HP:0001120	Abnormality of corneal size	57096	RPGRIP1	ORPHA:564
HP:0001120	Abnormality of corneal size	79848	CSPP1	ORPHA:564
HP:0001120	Abnormality of corneal size	80184	CEP290	ORPHA:564
HP:0001120	Abnormality of corneal size	51259	TMEM216	ORPHA:564
HP:0001120	Abnormality of corneal size	57545	CC2D2A	ORPHA:564
HP:0001120	Abnormality of corneal size	79583	TMEM231	ORPHA:564
HP:0001120	Abnormality of corneal size	91147	TMEM67	ORPHA:564
HP:0001120	Abnormality of corneal size	79770	TXNDC15	ORPHA:564
HP:0001120	Abnormality of corneal size	27077	B9D1	ORPHA:564
HP:0001120	Abnormality of corneal size	23322	RPGRIP1L	ORPHA:564
HP:0001120	Abnormality of corneal size	54903	MKS1	ORPHA:564
HP:0001120	Abnormality of corneal size	65062	TMEM237	ORPHA:564
HP:0001120	Abnormality of corneal size	2068	ERCC2	OMIM:601675
HP:0001120	Abnormality of corneal size	2068	ERCC2	ORPHA:33364
HP:0001120	Abnormality of corneal size	652	BMP4	OMIM:607932
HP:0001120	Abnormality of corneal size	652	BMP4	ORPHA:139471
HP:0001120	Abnormality of corneal size	55714	TENM3	OMIM:615145
HP:0001120	Abnormality of corneal size	10682	EBP	ORPHA:35173
HP:0001120	Abnormality of corneal size	128637	TBC1D20	OMIM:615663
HP:0001120	Abnormality of corneal size	128637	TBC1D20	ORPHA:2510
HP:0001120	Abnormality of corneal size	5950	RBP4	OMIM:615147
HP:0001120	Abnormality of corneal size	7020	TFAP2A	ORPHA:1297
HP:0001120	Abnormality of corneal size	2301	FOXE3	OMIM:610256
HP:0001120	Abnormality of corneal size	57167	SALL4	ORPHA:959
HP:0001120	Abnormality of corneal size	57167	SALL4	ORPHA:233
HP:0001120	Abnormality of corneal size	2313	FLI1	ORPHA:2308
HP:0001120	Abnormality of corneal size	79718	TBL1XR1	ORPHA:487825
HP:0001120	Abnormality of corneal size	79718	TBL1XR1	OMIM:602342
HP:0001120	Abnormality of corneal size	668	FOXL2	OMIM:110100
HP:0001120	Abnormality of corneal size	9935	MAFB	ORPHA:233
HP:0001120	Abnormality of corneal size	1123	CHN1	ORPHA:233
HP:0001120	Abnormality of corneal size	23476	BRD4	ORPHA:199
HP:0001120	Abnormality of corneal size	9126	SMC3	ORPHA:199
HP:0001120	Abnormality of corneal size	8243	SMC1A	ORPHA:199
HP:0001120	Abnormality of corneal size	6878	TAF6	ORPHA:199
HP:0001120	Abnormality of corneal size	25836	NIPBL	ORPHA:199
HP:0001120	Abnormality of corneal size	25836	NIPBL	OMIM:122470
HP:0001120	Abnormality of corneal size	55869	HDAC8	ORPHA:199
HP:0001120	Abnormality of corneal size	5885	RAD21	ORPHA:199
HP:0001120	Abnormality of corneal size	2703	GJA8	OMIM:116200
HP:0001120	Abnormality of corneal size	2703	GJA8	ORPHA:1377
HP:0001120	Abnormality of corneal size	10664	CTCF	ORPHA:363611
HP:0001120	Abnormality of corneal size	25782	RAB3GAP2	OMIM:614225
HP:0001120	Abnormality of corneal size	25782	RAB3GAP2	ORPHA:2510
HP:0001120	Abnormality of corneal size	22931	RAB18	OMIM:614222
HP:0001120	Abnormality of corneal size	22931	RAB18	ORPHA:2510
HP:0001120	Abnormality of corneal size	1413	CRYBA4	OMIM:610425
HP:0001120	Abnormality of corneal size	1413	CRYBA4	ORPHA:1377
HP:0001120	Abnormality of corneal size	286	ANK1	ORPHA:251066
HP:0001120	Abnormality of corneal size	113189	CHST14	OMIM:601776
HP:0001120	Abnormality of corneal size	136647	MPLKIP	OMIM:234050
HP:0001120	Abnormality of corneal size	136647	MPLKIP	ORPHA:33364
HP:0001120	Abnormality of corneal size	402	ARL2	OMIM:619082
HP:0001120	Abnormality of corneal size	203068	TUBB	OMIM:156610
HP:0001120	Abnormality of corneal size	203068	TUBB	ORPHA:2505
HP:0001120	Abnormality of corneal size	51715	RAB23	OMIM:201000
HP:0001120	Abnormality of corneal size	1806	DPYD	ORPHA:1675
HP:0001120	Abnormality of corneal size	182	JAG1	OMIM:118450
HP:0001120	Abnormality of corneal size	7837	PXDN	OMIM:269400
HP:0001120	Abnormality of corneal size	126792	B3GALT6	ORPHA:536467
HP:0001120	Abnormality of corneal size	57479	PRR12	OMIM:619539
HP:0001120	Abnormality of corneal size	92344	GORAB	ORPHA:2078
HP:0001120	Abnormality of corneal size	5831	PYCR1	ORPHA:2078
HP:0001120	Abnormality of corneal size	170692	ADAMTS18	OMIM:615458
HP:0001120	Abnormality of corneal size	4094	MAF	OMIM:610202
HP:0001120	Abnormality of corneal size	4094	MAF	ORPHA:1377
HP:0001120	Abnormality of corneal size	2961	GTF2E2	OMIM:616943
HP:0001120	Abnormality of corneal size	2961	GTF2E2	ORPHA:33364
HP:0001120	Abnormality of corneal size	404672	GTF2H5	ORPHA:33364
HP:0001120	Abnormality of corneal size	833	CARS1	ORPHA:33364
HP:0001120	Abnormality of corneal size	7737	RNF113A	ORPHA:33364
HP:0001120	Abnormality of corneal size	6897	TARS1	ORPHA:33364
HP:0001120	Abnormality of corneal size	16	AARS1	ORPHA:33364
HP:0001120	Abnormality of corneal size	2071	ERCC3	ORPHA:33364
HP:0001120	Abnormality of corneal size	3339	HSPG2	OMIM:255800
HP:0001120	Abnormality of corneal size	3339	HSPG2	ORPHA:800
HP:0001120	Abnormality of corneal size	3166	HMX1	OMIM:612109
HP:0001120	Abnormality of corneal size	71	ACTG1	ORPHA:2995
HP:0001120	Abnormality of corneal size	60	ACTB	ORPHA:2995
HP:0001120	Abnormality of corneal size	50945	TBX22	ORPHA:921
HP:0001120	Abnormality of corneal size	3845	KRAS	OMIM:600268
HP:0001120	Abnormality of corneal size	6913	TBX15	OMIM:260660
HP:0001120	Abnormality of corneal size	3832	KIF11	OMIM:152950
HP:0001120	Abnormality of corneal size	1415	CRYBB2	ORPHA:1377
HP:0001120	Abnormality of corneal size	1414	CRYBB1	ORPHA:1377
HP:0001120	Abnormality of corneal size	1414	CRYBB1	OMIM:611544
HP:0001120	Abnormality of corneal size	1421	CRYGD	ORPHA:1377
HP:0001120	Abnormality of corneal size	7439	BEST1	OMIM:193220
HP:0001120	Abnormality of corneal size	3981	LIG4	ORPHA:235
HP:0001120	Abnormality of corneal size	54888	NSUN2	ORPHA:235
HP:0001120	Abnormality of corneal size	5295	PIK3R1	OMIM:269880
HP:0001120	Abnormality of corneal size	5295	PIK3R1	ORPHA:3163
HP:0001120	Abnormality of corneal size	26277	TINF2	OMIM:268130
HP:0001120	Abnormality of corneal size	7010	TEK	OMIM:617272
HP:0001120	Abnormality of corneal size	7010	TEK	ORPHA:98976
HP:0001120	Abnormality of corneal size	26128	KIFBP	OMIM:609460
HP:0001120	Abnormality of corneal size	84168	ANTXR1	OMIM:230740
HP:0001120	Abnormality of corneal size	4519	MT-CYB	ORPHA:137675
HP:0001120	Abnormality of corneal size	6804	STX1A	ORPHA:904
HP:0001120	Abnormality of corneal size	7461	CLIP2	ORPHA:904
HP:0001120	Abnormality of corneal size	84277	DNAJC30	ORPHA:904
HP:0001120	Abnormality of corneal size	8468	FKBP6	ORPHA:904
HP:0001120	Abnormality of corneal size	5982	RFC2	ORPHA:904
HP:0001120	Abnormality of corneal size	2969	GTF2I	ORPHA:904
HP:0001120	Abnormality of corneal size	3984	LIMK1	ORPHA:904
HP:0001120	Abnormality of corneal size	9569	GTF2IRD1	ORPHA:904
HP:0001120	Abnormality of corneal size	155382	VPS37D	ORPHA:904
HP:0001120	Abnormality of corneal size	155368	METTL27	ORPHA:904
HP:0001120	Abnormality of corneal size	114049	BUD23	ORPHA:904
HP:0001120	Abnormality of corneal size	7458	EIF4H	ORPHA:904
HP:0001120	Abnormality of corneal size	84163	GTF2IRD2	ORPHA:904
HP:0001120	Abnormality of corneal size	26608	TBL2	ORPHA:904
HP:0001120	Abnormality of corneal size	653361	NCF1	ORPHA:904
HP:0001120	Abnormality of corneal size	135886	TMEM270	ORPHA:904
HP:0001120	Abnormality of corneal size	9031	BAZ1B	ORPHA:904
HP:0001120	Abnormality of corneal size	2006	ELN	ORPHA:904
HP:0001120	Abnormality of corneal size	91851	CHRDL1	OMIM:309300
HP:0001120	Abnormality of corneal size	2263	FGFR2	ORPHA:313855
HP:0001120	Abnormality of corneal size	2200	FBN1	ORPHA:284979
HP:0001120	Abnormality of corneal size	3778	KCNMA1	OMIM:618729
HP:0001120	Abnormality of corneal size	1009	CDH11	OMIM:211380
HP:0001120	Abnormality of corneal size	29925	GMPPB	ORPHA:370959
HP:0001120	Abnormality of corneal size	10815	CPLX1	ORPHA:280
HP:0001120	Abnormality of corneal size	54872	PIGG	ORPHA:280
HP:0001120	Abnormality of corneal size	7469	NELFA	ORPHA:280
HP:0001120	Abnormality of corneal size	1487	CTBP1	ORPHA:280
HP:0001120	Abnormality of corneal size	3954	LETM1	ORPHA:280
HP:0001120	Abnormality of corneal size	7468	NSD2	ORPHA:280
HP:0001120	Abnormality of corneal size	5515	PPP2CA	OMIM:618354
HP:0001120	Abnormality of corneal size	285590	SH3PXD2B	OMIM:249420
HP:0001120	Abnormality of corneal size	11107	PRDM5	OMIM:614170
HP:0001120	Abnormality of corneal size	1301	COL11A1	OMIM:228520
HP:0001120	Abnormality of corneal size	2245	FGD1	ORPHA:915
HP:0001120	Abnormality of corneal size	1545	CYP1B1	ORPHA:98976
HP:0001120	Abnormality of corneal size	4053	LTBP2	ORPHA:98976
HP:0001120	Abnormality of corneal size	4053	LTBP2	OMIM:251750
HP:0001120	Abnormality of corneal size	4653	MYOC	ORPHA:98976
HP:0001120	Abnormality of corneal size	79158	GNPTAB	OMIM:252500
HP:0001357	Plagiocephaly	7291	TWIST1	ORPHA:794
HP:0001357	Plagiocephaly	7291	TWIST1	OMIM:101400
HP:0001357	Plagiocephaly	7291	TWIST1	OMIM:180750
HP:0001357	Plagiocephaly	2263	FGFR2	ORPHA:794
HP:0001357	Plagiocephaly	2263	FGFR2	OMIM:101400
HP:0001357	Plagiocephaly	2261	FGFR3	ORPHA:794
HP:0001357	Plagiocephaly	2261	FGFR3	ORPHA:53271
HP:0001357	Plagiocephaly	2261	FGFR3	OMIM:602849
HP:0001357	Plagiocephaly	2218	FKTN	ORPHA:272
HP:0001357	Plagiocephaly	23394	ADNP	ORPHA:404448
HP:0001357	Plagiocephaly	26235	FBXL4	OMIM:615471
HP:0001357	Plagiocephaly	104	ADARB1	OMIM:618862
HP:0001357	Plagiocephaly	56896	DPYSL5	OMIM:619435
HP:0001357	Plagiocephaly	3265	HRAS	ORPHA:2612
HP:0001357	Plagiocephaly	3845	KRAS	ORPHA:2612
HP:0001357	Plagiocephaly	4893	NRAS	ORPHA:2612
HP:0001357	Plagiocephaly	1947	EFNB1	ORPHA:1520
HP:0001357	Plagiocephaly	8573	CASK	OMIM:300749
HP:0001357	Plagiocephaly	55605	KIF21A	ORPHA:45358
HP:0001357	Plagiocephaly	347733	TUBB2B	ORPHA:45358
HP:0001357	Plagiocephaly	7846	TUBA1A	ORPHA:45358
HP:0001357	Plagiocephaly	401	PHOX2A	ORPHA:45358
HP:0001357	Plagiocephaly	10381	TUBB3	ORPHA:45358
HP:0001357	Plagiocephaly	10381	TUBB3	ORPHA:300570
HP:0001357	Plagiocephaly	84570	COL25A1	ORPHA:45358
HP:0001357	Plagiocephaly	84570	COL25A1	ORPHA:1143
HP:0001357	Plagiocephaly	8924	HERC2	OMIM:615516
HP:0001357	Plagiocephaly	57539	WDR35	OMIM:613610
HP:0001357	Plagiocephaly	6418	SET	OMIM:618106
HP:0001357	Plagiocephaly	4897	NRCAM	OMIM:619833
HP:0001357	Plagiocephaly	7545	ZIC1	OMIM:616602
HP:0001357	Plagiocephaly	56623	INPP5E	OMIM:213300
HP:0001357	Plagiocephaly	170302	ARX	OMIM:308350
HP:0001357	Plagiocephaly	1836	SLC26A2	ORPHA:56304
HP:0001357	Plagiocephaly	27125	AFF4	ORPHA:444077
HP:0001357	Plagiocephaly	5575	PRKAR1B	OMIM:619680
HP:0001357	Plagiocephaly	5515	PPP2CA	OMIM:618354
HP:0001357	Plagiocephaly	9578	CDC42BPB	OMIM:619841
HP:0001357	Plagiocephaly	3020	H3-3A	OMIM:619720
HP:0001357	Plagiocephaly	3021	H3-3B	OMIM:619721
HP:0001357	Plagiocephaly	113179	ADAT3	ORPHA:363528
HP:0001357	Plagiocephaly	283489	CHAMP1	OMIM:616579
HP:0001357	Plagiocephaly	84162	BLTP1	OMIM:617822
HP:0001357	Plagiocephaly	4010	LMX1B	ORPHA:495818
HP:0001357	Plagiocephaly	6812	STXBP1	ORPHA:495818
HP:0001357	Plagiocephaly	55780	ERMARD	ORPHA:75857
HP:0001357	Plagiocephaly	64221	ROBO3	OMIM:607313
HP:0001357	Plagiocephaly	9126	SMC3	OMIM:610759
HP:0001357	Plagiocephaly	55650	PIGV	OMIM:239300
HP:0001357	Plagiocephaly	55650	PIGV	ORPHA:247262
HP:0001357	Plagiocephaly	56975	FAM20C	OMIM:259775
HP:0001357	Plagiocephaly	6904	TBCD	ORPHA:496641
HP:0001357	Plagiocephaly	6904	TBCD	OMIM:617193
HP:0001357	Plagiocephaly	6595	SMARCA2	OMIM:619293
HP:0001357	Plagiocephaly	84992	PIGY	ORPHA:247262
HP:0001357	Plagiocephaly	84720	PIGO	ORPHA:247262
HP:0001357	Plagiocephaly	84720	PIGO	OMIM:614749
HP:0001357	Plagiocephaly	93210	PGAP3	ORPHA:247262
HP:0001357	Plagiocephaly	284098	PIGW	ORPHA:247262
HP:0001357	Plagiocephaly	27315	PGAP2	ORPHA:247262
HP:0001357	Plagiocephaly	9487	PIGL	ORPHA:247262
HP:0001357	Plagiocephaly	9487	PIGL	OMIM:280000
HP:0001357	Plagiocephaly	3190	HNRNPK	OMIM:616580
HP:0001357	Plagiocephaly	57492	ARID1B	OMIM:135900
HP:0001357	Plagiocephaly	57492	ARID1B	ORPHA:251056
HP:0001357	Plagiocephaly	80204	FBXO11	OMIM:618089
HP:0001357	Plagiocephaly	1778	DYNC1H1	OMIM:614563
HP:0001357	Plagiocephaly	9968	MED12	ORPHA:93932
HP:0001357	Plagiocephaly	9968	MED12	OMIM:305450
HP:0001357	Plagiocephaly	7994	KAT6A	ORPHA:457193
HP:0001357	Plagiocephaly	7994	KAT6A	OMIM:616268
HP:0001357	Plagiocephaly	23184	MESD	OMIM:618644
HP:0001357	Plagiocephaly	26999	CYFIP2	OMIM:618008
HP:0001357	Plagiocephaly	23389	MED13L	ORPHA:369891
HP:0001357	Plagiocephaly	23389	MED13L	OMIM:616789
HP:0001357	Plagiocephaly	7703	PCGF2	OMIM:618371
HP:0001357	Plagiocephaly	652	BMP4	OMIM:607932
HP:0001357	Plagiocephaly	2009	EML1	OMIM:600348
HP:0001357	Plagiocephaly	4330	MN1	OMIM:618774
HP:0001357	Plagiocephaly	5277	PIGA	OMIM:300868
HP:0001357	Plagiocephaly	5277	PIGA	OMIM:301072
HP:0001357	Plagiocephaly	23036	ZNF292	OMIM:619188
HP:0001357	Plagiocephaly	267010	RNU12	ORPHA:85199
HP:0001357	Plagiocephaly	51729	WBP11	OMIM:619227
HP:0001357	Plagiocephaly	51715	RAB23	ORPHA:65759
HP:0001357	Plagiocephaly	1954	MEGF8	ORPHA:65759
HP:0001357	Plagiocephaly	1301	COL11A1	ORPHA:2021
HP:0001357	Plagiocephaly	1302	COL11A2	ORPHA:2021
HP:0001357	Plagiocephaly	79158	GNPTAB	OMIM:252600
HP:0001357	Plagiocephaly	1974	EIF4A2	OMIM:620455
HP:0001357	Plagiocephaly	760	CA2	ORPHA:2785
HP:0001357	Plagiocephaly	57167	SALL4	ORPHA:233
HP:0001357	Plagiocephaly	9935	MAFB	ORPHA:233
HP:0001357	Plagiocephaly	1123	CHN1	ORPHA:233
HP:0001357	Plagiocephaly	5518	PPP2R1A	OMIM:616362
HP:0001357	Plagiocephaly	5518	PPP2R1A	ORPHA:457284
HP:0001357	Plagiocephaly	7874	USP7	ORPHA:500055
HP:0001357	Plagiocephaly	57498	KIDINS220	OMIM:617296
HP:0001357	Plagiocephaly	57498	KIDINS220	ORPHA:521390
HP:0001357	Plagiocephaly	57003	CCDC47	OMIM:618268
HP:0001357	Plagiocephaly	1182	CLCN3	OMIM:619512
HP:0001357	Plagiocephaly	112858	TP53RK	OMIM:617730
HP:0001357	Plagiocephaly	23126	POGZ	OMIM:616364
HP:0001357	Plagiocephaly	54914	FOCAD	OMIM:619991
HP:0001357	Plagiocephaly	5530	PPP3CA	OMIM:618265
HP:0001357	Plagiocephaly	6711	SPTBN1	OMIM:619475
HP:0001357	Plagiocephaly	91461	PKDCC	OMIM:618821
HP:0001357	Plagiocephaly	490	ATP2B1	OMIM:619910
HP:0001357	Plagiocephaly	285175	UNC80	OMIM:616801
HP:0001357	Plagiocephaly	285175	UNC80	ORPHA:371364
HP:0001357	Plagiocephaly	259232	NALCN	ORPHA:371364
HP:0001357	Plagiocephaly	9091	PIGQ	OMIM:618548
HP:0001357	Plagiocephaly	80036	TRPM3	OMIM:620224
HP:0001357	Plagiocephaly	4784	NFIX	ORPHA:420179
HP:0001357	Plagiocephaly	93986	FOXP2	ORPHA:251061
HP:0001357	Plagiocephaly	11198	SUPT16H	OMIM:619480
HP:0001357	Plagiocephaly	79813	EHMT1	ORPHA:261652
HP:0001357	Plagiocephaly	58508	KMT2C	ORPHA:261652
HP:0001357	Plagiocephaly	58508	KMT2C	OMIM:617768
HP:0001357	Plagiocephaly	4094	MAF	ORPHA:1272
HP:0001357	Plagiocephaly	374879	ZNF699	OMIM:619488
HP:0001357	Plagiocephaly	8567	MADD	OMIM:619005
HP:0001357	Plagiocephaly	5594	MAPK1	OMIM:619087
HP:0001357	Plagiocephaly	7358	UGDH	OMIM:618792
HP:0001357	Plagiocephaly	4849	CNOT3	OMIM:618672
HP:0001357	Plagiocephaly	6942	TCF20	OMIM:618430
HP:0001357	Plagiocephaly	388015	RTL1	ORPHA:96334
HP:0001357	Plagiocephaly	8788	DLK1	ORPHA:96334
HP:0001357	Plagiocephaly	55384	MEG3	ORPHA:96334
HP:0001357	Plagiocephaly	3187	HNRNPH1	OMIM:620083
HP:0001357	Plagiocephaly	4841	NONO	ORPHA:466791
HP:0001357	Plagiocephaly	126792	B3GALT6	ORPHA:536467
HP:0001357	Plagiocephaly	26137	ZBTB20	ORPHA:3042
HP:0001357	Plagiocephaly	57502	NLGN4X	OMIM:300495
HP:0001357	Plagiocephaly	5879	RAC1	OMIM:617751
HP:0001357	Plagiocephaly	5879	RAC1	ORPHA:500159
HP:0001357	Plagiocephaly	5528	PPP2R5D	ORPHA:457279
HP:0001357	Plagiocephaly	1984	EIF5A	OMIM:619376
HP:0001357	Plagiocephaly	51360	MBTPS2	ORPHA:85284
HP:0001357	Plagiocephaly	51317	PHF21A	OMIM:618725
HP:0001357	Plagiocephaly	84168	ANTXR1	OMIM:230740
HP:0001357	Plagiocephaly	55681	SCYL2	ORPHA:1143
HP:0001357	Plagiocephaly	57222	ERGIC1	ORPHA:1143
HP:0001357	Plagiocephaly	5430	POLR2A	OMIM:618603
HP:0001357	Plagiocephaly	22856	CHSY1	OMIM:605282
HP:0001357	Plagiocephaly	1807	DPYS	OMIM:222748
HP:0001357	Plagiocephaly	129285	PPP1R21	OMIM:619383
HP:0001357	Plagiocephaly	27161	AGO2	OMIM:619149
HP:0001357	Plagiocephaly	58497	PRUNE1	OMIM:617481
HP:0001357	Plagiocephaly	58497	PRUNE1	ORPHA:544469
HP:0001357	Plagiocephaly	57647	DHX37	OMIM:618731
HP:0001357	Plagiocephaly	8621	CDK13	OMIM:617360
HP:0001357	Plagiocephaly	5881	RAC3	OMIM:618577
HP:0001357	Plagiocephaly	284361	EMC10	OMIM:619264
HP:0001357	Plagiocephaly	1523	CUX1	OMIM:618330
HP:0001357	Plagiocephaly	341208	HEPHL1	OMIM:261990
HP:0001357	Plagiocephaly	25871	NEPRO	OMIM:618853
HP:0001357	Plagiocephaly	196528	ARID2	OMIM:617808
HP:0001357	Plagiocephaly	10535	RNASEH2A	ORPHA:51
HP:0001357	Plagiocephaly	84153	RNASEH2C	ORPHA:51
HP:0001357	Plagiocephaly	25939	SAMHD1	ORPHA:51
HP:0001357	Plagiocephaly	79621	RNASEH2B	ORPHA:51
HP:0001357	Plagiocephaly	103	ADAR	ORPHA:51
HP:0001357	Plagiocephaly	11277	TREX1	ORPHA:51
HP:0001357	Plagiocephaly	100147744	RNU7-1	ORPHA:51
HP:0001357	Plagiocephaly	134353	LSM11	ORPHA:51
HP:0001357	Plagiocephaly	64135	IFIH1	ORPHA:51
HP:0001357	Plagiocephaly	389827	MYMK	OMIM:254940
HP:0001357	Plagiocephaly	865	CBFB	OMIM:620099
HP:0001357	Plagiocephaly	6938	TCF12	OMIM:619718
HP:0001357	Plagiocephaly	526	ATP6V1B2	ORPHA:79500
HP:0001357	Plagiocephaly	57465	TBC1D24	ORPHA:79500
HP:0001357	Plagiocephaly	60529	ALX4	OMIM:613451
HP:0001357	Plagiocephaly	815	CAMK2A	OMIM:617798
HP:0001357	Plagiocephaly	2890	GRIA1	OMIM:619927
HP:0001357	Plagiocephaly	781	CACNA2D1	OMIM:620149
HP:0001357	Plagiocephaly	64864	RFX7	OMIM:620330
HP:0001357	Plagiocephaly	79087	ALG12	ORPHA:79324
HP:0000610	Abnormal choroid morphology	8517	IKBKG	ORPHA:464
HP:0000610	Abnormal choroid morphology	3030	HADHA	ORPHA:5
HP:0000610	Abnormal choroid morphology	84314	TMEM107	ORPHA:564
HP:0000610	Abnormal choroid morphology	26123	TCTN3	ORPHA:564
HP:0000610	Abnormal choroid morphology	79867	TCTN2	ORPHA:564
HP:0000610	Abnormal choroid morphology	80776	B9D2	ORPHA:564
HP:0000610	Abnormal choroid morphology	79600	TCTN1	ORPHA:564
HP:0000610	Abnormal choroid morphology	57096	RPGRIP1	ORPHA:564
HP:0000610	Abnormal choroid morphology	79848	CSPP1	ORPHA:564
HP:0000610	Abnormal choroid morphology	80184	CEP290	ORPHA:564
HP:0000610	Abnormal choroid morphology	51259	TMEM216	ORPHA:564
HP:0000610	Abnormal choroid morphology	57545	CC2D2A	ORPHA:564
HP:0000610	Abnormal choroid morphology	79583	TMEM231	ORPHA:564
HP:0000610	Abnormal choroid morphology	91147	TMEM67	ORPHA:564
HP:0000610	Abnormal choroid morphology	79770	TXNDC15	ORPHA:564
HP:0000610	Abnormal choroid morphology	27077	B9D1	ORPHA:564
HP:0000610	Abnormal choroid morphology	23322	RPGRIP1L	ORPHA:564
HP:0000610	Abnormal choroid morphology	54903	MKS1	ORPHA:564
HP:0000610	Abnormal choroid morphology	65062	TMEM237	ORPHA:564
HP:0000610	Abnormal choroid morphology	55670	PEX26	ORPHA:912
HP:0000610	Abnormal choroid morphology	5824	PEX19	ORPHA:912
HP:0000610	Abnormal choroid morphology	5828	PEX2	ORPHA:912
HP:0000610	Abnormal choroid morphology	8504	PEX3	ORPHA:912
HP:0000610	Abnormal choroid morphology	8799	PEX11B	ORPHA:912
HP:0000610	Abnormal choroid morphology	9409	PEX16	ORPHA:912
HP:0000610	Abnormal choroid morphology	5190	PEX6	ORPHA:912
HP:0000610	Abnormal choroid morphology	5830	PEX5	ORPHA:912
HP:0000610	Abnormal choroid morphology	5189	PEX1	ORPHA:912
HP:0000610	Abnormal choroid morphology	5193	PEX12	ORPHA:912
HP:0000610	Abnormal choroid morphology	5194	PEX13	ORPHA:912
HP:0000610	Abnormal choroid morphology	5195	PEX14	ORPHA:912
HP:0000610	Abnormal choroid morphology	5192	PEX10	ORPHA:912
HP:0000610	Abnormal choroid morphology	4693	NDP	ORPHA:649
HP:0000610	Abnormal choroid morphology	5456	POU3F4	ORPHA:1435
HP:0000610	Abnormal choroid morphology	346007	EYS	OMIM:602772
HP:0000610	Abnormal choroid morphology	1499	CTNNB1	ORPHA:891
HP:0000610	Abnormal choroid morphology	23554	TSPAN12	ORPHA:891
HP:0000610	Abnormal choroid morphology	4041	LRP5	ORPHA:891
HP:0000610	Abnormal choroid morphology	79797	ZNF408	ORPHA:891
HP:0000610	Abnormal choroid morphology	79797	ZNF408	OMIM:616468
HP:0000610	Abnormal choroid morphology	8322	FZD4	ORPHA:891
HP:0000610	Abnormal choroid morphology	25794	FSCN2	OMIM:607921
HP:0000610	Abnormal choroid morphology	4901	NRL	OMIM:613750
HP:0000610	Abnormal choroid morphology	54820	NDE1	ORPHA:2177
HP:0000610	Abnormal choroid morphology	6295	SAG	OMIM:613758
HP:0000610	Abnormal choroid morphology	3000	GUCY2D	OMIM:215500
HP:0000610	Abnormal choroid morphology	3000	GUCY2D	OMIM:601777
HP:0000610	Abnormal choroid morphology	3000	GUCY2D	ORPHA:75377
HP:0000610	Abnormal choroid morphology	1406	CRX	OMIM:120970
HP:0000610	Abnormal choroid morphology	6094	ROM1	OMIM:608133
HP:0000610	Abnormal choroid morphology	5076	PAX2	OMIM:120330
HP:0000610	Abnormal choroid morphology	80781	COL18A1	OMIM:267750
HP:0000610	Abnormal choroid morphology	9227	LRAT	ORPHA:364055
HP:0000610	Abnormal choroid morphology	55812	SPATA7	ORPHA:364055
HP:0000610	Abnormal choroid morphology	6121	RPE65	ORPHA:364055
HP:0000610	Abnormal choroid morphology	6121	RPE65	OMIM:618697
HP:0000610	Abnormal choroid morphology	167691	LCA5	ORPHA:364055
HP:0000610	Abnormal choroid morphology	3845	KRAS	OMIM:600268
HP:0000610	Abnormal choroid morphology	100147744	RNU7-1	OMIM:619487
HP:0000610	Abnormal choroid morphology	182	JAG1	OMIM:118450
HP:0000610	Abnormal choroid morphology	1462	VCAN	OMIM:143200
HP:0000610	Abnormal choroid morphology	2978	GUCA1A	ORPHA:75377
HP:0000610	Abnormal choroid morphology	60	ACTB	OMIM:243310
HP:0000610	Abnormal choroid morphology	57167	SALL4	ORPHA:233
HP:0000610	Abnormal choroid morphology	57167	SALL4	ORPHA:959
HP:0000610	Abnormal choroid morphology	9935	MAFB	ORPHA:233
HP:0000610	Abnormal choroid morphology	1123	CHN1	ORPHA:233
HP:0000610	Abnormal choroid morphology	64840	PORCN	OMIM:305600
HP:0000610	Abnormal choroid morphology	64840	PORCN	ORPHA:2092
HP:0000610	Abnormal choroid morphology	54880	BCOR	OMIM:309800
HP:0000610	Abnormal choroid morphology	54880	BCOR	ORPHA:568
HP:0000610	Abnormal choroid morphology	8260	NAA10	OMIM:309800
HP:0000610	Abnormal choroid morphology	8260	NAA10	ORPHA:568
HP:0000610	Abnormal choroid morphology	6711	SPTBN1	OMIM:619475
HP:0000610	Abnormal choroid morphology	56623	INPP5E	OMIM:213300
HP:0000610	Abnormal choroid morphology	56623	INPP5E	ORPHA:1454
HP:0000610	Abnormal choroid morphology	10413	YAP1	OMIM:120433
HP:0000610	Abnormal choroid morphology	10413	YAP1	ORPHA:1473
HP:0000610	Abnormal choroid morphology	9839	ZEB2	OMIM:235730
HP:0000610	Abnormal choroid morphology	6469	SHH	OMIM:611638
HP:0000610	Abnormal choroid morphology	207	AKT1	ORPHA:744
HP:0000610	Abnormal choroid morphology	79759	ZNF668	OMIM:620194
HP:0000610	Abnormal choroid morphology	6299	SALL1	OMIM:107480
HP:0000610	Abnormal choroid morphology	6299	SALL1	ORPHA:857
HP:0000610	Abnormal choroid morphology	64412	GZF1	OMIM:617662
HP:0000610	Abnormal choroid morphology	3149	HMGB3	OMIM:300915
HP:0000610	Abnormal choroid morphology	4149	MAX	OMIM:620712
HP:0000610	Abnormal choroid morphology	51339	DACT1	ORPHA:857
HP:0000610	Abnormal choroid morphology	9573	GDF3	OMIM:613702
HP:0000610	Abnormal choroid morphology	5080	PAX6	OMIM:120200
HP:0000610	Abnormal choroid morphology	55636	CHD7	ORPHA:138
HP:0000610	Abnormal choroid morphology	9723	SEMA3E	ORPHA:138
HP:0000610	Abnormal choroid morphology	113246	C12orf57	OMIM:218340
HP:0000610	Abnormal choroid morphology	51322	WAC	ORPHA:284169
HP:0000610	Abnormal choroid morphology	473	RERE	ORPHA:494344
HP:0000610	Abnormal choroid morphology	652	BMP4	ORPHA:139471
HP:0000610	Abnormal choroid morphology	57020	VPS35L	OMIM:619135
HP:0000610	Abnormal choroid morphology	57020	VPS35L	ORPHA:7
HP:0000610	Abnormal choroid morphology	149461	CLDN19	ORPHA:2196
HP:0000610	Abnormal choroid morphology	55733	HHAT	ORPHA:1422
HP:0000610	Abnormal choroid morphology	9487	PIGL	OMIM:280000
HP:0000610	Abnormal choroid morphology	8777	MPDZ	OMIM:615219
HP:0000610	Abnormal choroid morphology	5950	RBP4	OMIM:616428
HP:0000610	Abnormal choroid morphology	3166	HMX1	OMIM:612109
HP:0000610	Abnormal choroid morphology	51524	TMEM138	ORPHA:2318
HP:0000610	Abnormal choroid morphology	23090	ZNF423	ORPHA:2318
HP:0000610	Abnormal choroid morphology	6496	SIX3	OMIM:157170
HP:0000610	Abnormal choroid morphology	50945	TBX22	ORPHA:921
HP:0000610	Abnormal choroid morphology	9897	WASHC5	ORPHA:7
HP:0000610	Abnormal choroid morphology	28952	CCDC22	ORPHA:7
HP:0000610	Abnormal choroid morphology	56896	DPYSL5	ORPHA:7
HP:0000610	Abnormal choroid morphology	7855	FZD5	OMIM:620731
HP:0000610	Abnormal choroid morphology	3105	HLA-A	ORPHA:179
HP:0000610	Abnormal choroid morphology	8842	PROM1	ORPHA:827
HP:0000610	Abnormal choroid morphology	5961	PRPH2	ORPHA:827
HP:0000610	Abnormal choroid morphology	6785	ELOVL4	ORPHA:827
HP:0000610	Abnormal choroid morphology	24	ABCA4	ORPHA:827
HP:0000610	Abnormal choroid morphology	54714	CNGB3	ORPHA:827
HP:0000610	Abnormal choroid morphology	7078	TIMP3	ORPHA:59181
HP:0000610	Abnormal choroid morphology	23418	CRB1	ORPHA:35612
HP:0000610	Abnormal choroid morphology	7439	BEST1	ORPHA:35612
HP:0000610	Abnormal choroid morphology	26022	TMEM98	ORPHA:35612
HP:0000610	Abnormal choroid morphology	6657	SOX2	ORPHA:35612
HP:0000610	Abnormal choroid morphology	220	ALDH1A3	ORPHA:35612
HP:0000610	Abnormal choroid morphology	646960	PRSS56	ORPHA:35612
HP:0000610	Abnormal choroid morphology	83552	MFRP	ORPHA:35612
HP:0000610	Abnormal choroid morphology	30062	RAX	ORPHA:35612
HP:0000610	Abnormal choroid morphology	5015	OTX2	ORPHA:35612
HP:0000610	Abnormal choroid morphology	4990	SIX6	ORPHA:35612
HP:0000610	Abnormal choroid morphology	6017	RLBP1	ORPHA:85128
HP:0000610	Abnormal choroid morphology	64127	NOD2	ORPHA:90340
HP:0000610	Abnormal choroid morphology	4763	NF1	ORPHA:97685
HP:0000610	Abnormal choroid morphology	1188	CLCNKB	OMIM:607364
HP:0000610	Abnormal choroid morphology	2776	GNAQ	ORPHA:3205
HP:0000610	Abnormal choroid morphology	10908	PNPLA6	OMIM:215470
HP:0000610	Abnormal choroid morphology	10908	PNPLA6	ORPHA:1180
HP:0000610	Abnormal choroid morphology	157680	VPS13B	ORPHA:193
HP:0000610	Abnormal choroid morphology	157680	VPS13B	OMIM:216550
HP:0000610	Abnormal choroid morphology	50939	IMPG2	ORPHA:99000
HP:0000610	Abnormal choroid morphology	3617	IMPG1	ORPHA:99000
HP:0000610	Abnormal choroid morphology	89910	UBE3B	ORPHA:2707
HP:0000610	Abnormal choroid morphology	1121	CHM	OMIM:303100
HP:0000610	Abnormal choroid morphology	1121	CHM	ORPHA:180
HP:0000610	Abnormal choroid morphology	1969	EPHA2	OMIM:116600
HP:0000610	Abnormal choroid morphology	85378	TUBGCP6	OMIM:251270
HP:0000610	Abnormal choroid morphology	27229	TUBGCP4	OMIM:616335
HP:0000610	Abnormal choroid morphology	3832	KIF11	ORPHA:2526
HP:0000610	Abnormal choroid morphology	3832	KIF11	OMIM:152950
HP:0000610	Abnormal choroid morphology	4952	OCRL	ORPHA:534
HP:0000610	Abnormal choroid morphology	84892	POMGNT2	ORPHA:899
HP:0000610	Abnormal choroid morphology	148789	B3GALNT2	ORPHA:899
HP:0000610	Abnormal choroid morphology	79147	FKRP	ORPHA:899
HP:0000610	Abnormal choroid morphology	29954	POMT2	ORPHA:899
HP:0000610	Abnormal choroid morphology	9215	LARGE1	ORPHA:899
HP:0000610	Abnormal choroid morphology	1282	COL4A1	ORPHA:899
HP:0000610	Abnormal choroid morphology	729920	CRPPA	ORPHA:899
HP:0000610	Abnormal choroid morphology	10329	RXYLT1	ORPHA:899
HP:0000610	Abnormal choroid morphology	1605	DAG1	ORPHA:899
HP:0000610	Abnormal choroid morphology	11041	B4GAT1	ORPHA:899
HP:0000610	Abnormal choroid morphology	10585	POMT1	ORPHA:899
HP:0000610	Abnormal choroid morphology	84197	POMK	ORPHA:899
HP:0000610	Abnormal choroid morphology	2218	FKTN	ORPHA:899
HP:0000610	Abnormal choroid morphology	55624	POMGNT1	ORPHA:899
HP:0000610	Abnormal choroid morphology	54539	NDUFB11	ORPHA:2556
HP:0000610	Abnormal choroid morphology	1349	COX7B	ORPHA:2556
HP:0000610	Abnormal choroid morphology	3052	HCCS	ORPHA:2556
HP:0000610	Abnormal choroid morphology	8449	DHX16	OMIM:618733
HP:0000610	Abnormal choroid morphology	11235	PDCD10	ORPHA:221061
HP:0000610	Abnormal choroid morphology	5290	PIK3CA	ORPHA:221061
HP:0000610	Abnormal choroid morphology	83605	CCM2	ORPHA:221061
HP:0000610	Abnormal choroid morphology	889	KRIT1	ORPHA:221061
HP:0000610	Abnormal choroid morphology	7003	TEAD1	OMIM:108985
HP:0000610	Abnormal choroid morphology	2202	EFEMP1	ORPHA:75376
HP:0000610	Abnormal choroid morphology	3075	CFH	ORPHA:75376
HP:0000610	Abnormal choroid morphology	3426	CFI	ORPHA:75376
HP:0000610	Abnormal choroid morphology	3426	CFI	OMIM:615439
HP:0000610	Abnormal choroid morphology	64131	XYLT1	OMIM:264800
HP:0000610	Abnormal choroid morphology	64132	XYLT2	OMIM:264800
HP:0000610	Abnormal choroid morphology	368	ABCC6	OMIM:264800
HP:0000610	Abnormal choroid morphology	368	ABCC6	ORPHA:51608
HP:0000610	Abnormal choroid morphology	368	ABCC6	ORPHA:758
HP:0000610	Abnormal choroid morphology	1181	CLCN2	OMIM:615651
HP:0000610	Abnormal choroid morphology	5167	ENPP1	ORPHA:51608
HP:0000610	Abnormal choroid morphology	5167	ENPP1	ORPHA:758
HP:0000610	Abnormal choroid morphology	7867	MAPKAPK3	OMIM:617111
HP:0000610	Abnormal choroid morphology	189	AGXT	OMIM:259900
HP:0000610	Abnormal choroid morphology	7123	CLEC3B	OMIM:619977
HP:0000610	Abnormal choroid morphology	2201	FBN2	OMIM:616118
HP:0000610	Abnormal choroid morphology	10516	FBLN5	OMIM:608895
HP:0000610	Abnormal choroid morphology	348	APOE	OMIM:603075
HP:0000610	Abnormal choroid morphology	10878	CFHR3	OMIM:603075
HP:0000610	Abnormal choroid morphology	83872	HMCN1	OMIM:603075
HP:0000610	Abnormal choroid morphology	3078	CFHR1	OMIM:603075
HP:0000610	Abnormal choroid morphology	2192	FBLN1	ORPHA:404451
HP:0000610	Abnormal choroid morphology	3123	HLA-DRB1	OMIM:181000
HP:0000610	Abnormal choroid morphology	94	ACVRL1	OMIM:600376
HP:0000610	Abnormal choroid morphology	1001	CDH3	OMIM:601553
HP:0000610	Abnormal choroid morphology	10058	ABCB6	OMIM:614497
HP:0000610	Abnormal choroid morphology	355	FAS	ORPHA:3437
HP:0000610	Abnormal choroid morphology	26191	PTPN22	ORPHA:3437
HP:0000610	Abnormal choroid morphology	65082	VPS33A	OMIM:617303
HP:0000610	Abnormal choroid morphology	6492	SIM1	ORPHA:398079
HP:0000610	Abnormal choroid morphology	54551	MAGEL2	ORPHA:398069
HP:0000610	Abnormal choroid morphology	3458	IFNG	ORPHA:805
HP:0000610	Abnormal choroid morphology	7248	TSC1	ORPHA:805
HP:0000610	Abnormal choroid morphology	7249	TSC2	ORPHA:805
HP:0000610	Abnormal choroid morphology	7490	WT1	OMIM:106210
HP:0000610	Abnormal choroid morphology	1638	DCT	OMIM:619165
HP:0000610	Abnormal choroid morphology	10166	SLC25A15	ORPHA:415
HP:0000610	Abnormal choroid morphology	125988	MICOS13	OMIM:618329
HP:0000610	Abnormal choroid morphology	1804	DPP6	OMIM:616311
HP:0000610	Abnormal choroid morphology	1297	COL9A1	OMIM:614134
HP:0000610	Abnormal choroid morphology	285440	CYP4V2	ORPHA:41751
HP:0000610	Abnormal choroid morphology	170692	ADAMTS18	OMIM:615458
HP:0000610	Abnormal choroid morphology	6102	RP2	OMIM:312600
HP:0000610	Abnormal choroid morphology	6935	ZEB1	ORPHA:98973
HP:0000610	Abnormal choroid morphology	30813	VSX1	ORPHA:98973
HP:0000610	Abnormal choroid morphology	58495	OVOL2	ORPHA:98973
HP:0000610	Abnormal choroid morphology	79977	GRHL2	ORPHA:98973
HP:0000610	Abnormal choroid morphology	1296	COL8A2	ORPHA:98973
HP:0000610	Abnormal choroid morphology	114902	C1QTNF5	OMIM:605670
HP:0000610	Abnormal choroid morphology	4942	OAT	ORPHA:414
HP:0001123	Visual field defect	4547	MTTP	ORPHA:14
HP:0001123	Visual field defect	10083	USH1C	ORPHA:231169
HP:0001123	Visual field defect	124590	USH1G	ORPHA:231169
HP:0001123	Visual field defect	83715	ESPN	ORPHA:231169
HP:0001123	Visual field defect	10518	CIB2	ORPHA:231169
HP:0001123	Visual field defect	4647	MYO7A	ORPHA:231169
HP:0001123	Visual field defect	4647	MYO7A	ORPHA:231178
HP:0001123	Visual field defect	65217	PCDH15	ORPHA:231169
HP:0001123	Visual field defect	9129	PRPF3	OMIM:601414
HP:0001123	Visual field defect	6101	RP1	OMIM:180100
HP:0001123	Visual field defect	79955	PDZD7	ORPHA:231178
HP:0001123	Visual field defect	25861	WHRN	ORPHA:231178
HP:0001123	Visual field defect	84059	ADGRV1	ORPHA:231178
HP:0001123	Visual field defect	91137	SLC25A46	OMIM:616505
HP:0001123	Visual field defect	169522	KCNV2	OMIM:610356
HP:0001123	Visual field defect	26504	CNNM4	OMIM:217080
HP:0001123	Visual field defect	686	BTD	ORPHA:79241
HP:0001123	Visual field defect	9094	UNC119	OMIM:620342
HP:0001123	Visual field defect	80207	OPA3	OMIM:165300
HP:0001123	Visual field defect	22901	ARSG	ORPHA:231183
HP:0001123	Visual field defect	4575	MT-TS2	ORPHA:231183
HP:0001123	Visual field defect	3035	HARS1	ORPHA:231183
HP:0001123	Visual field defect	84131	CEP78	ORPHA:231183
HP:0001123	Visual field defect	773	CACNA1A	ORPHA:569
HP:0001123	Visual field defect	112476	PRRT2	ORPHA:569
HP:0001123	Visual field defect	6323	SCN1A	ORPHA:569
HP:0001123	Visual field defect	477	ATP1A2	ORPHA:569
HP:0001123	Visual field defect	114902	C1QTNF5	OMIM:605670
HP:0001123	Visual field defect	4720	NDUFS2	OMIM:620569
HP:0001123	Visual field defect	4720	NDUFS2	ORPHA:104
HP:0001123	Visual field defect	4536	MT-ND2	OMIM:535000
HP:0001123	Visual field defect	4536	MT-ND2	ORPHA:104
HP:0001123	Visual field defect	4538	MT-ND4	OMIM:535000
HP:0001123	Visual field defect	4538	MT-ND4	ORPHA:104
HP:0001123	Visual field defect	4539	MT-ND4L	OMIM:535000
HP:0001123	Visual field defect	4539	MT-ND4L	ORPHA:104
HP:0001123	Visual field defect	84277	DNAJC30	ORPHA:104
HP:0001123	Visual field defect	778	CACNA1F	OMIM:300476
HP:0001123	Visual field defect	778	CACNA1F	ORPHA:1872
HP:0001123	Visual field defect	22926	ATF6	ORPHA:49382
HP:0001123	Visual field defect	22926	ATF6	ORPHA:1872
HP:0001123	Visual field defect	22926	ATF6	OMIM:616517
HP:0001123	Visual field defect	5146	PDE6C	ORPHA:49382
HP:0001123	Visual field defect	5149	PDE6H	ORPHA:49382
HP:0001123	Visual field defect	2780	GNAT2	ORPHA:49382
HP:0001123	Visual field defect	1261	CNGA3	ORPHA:49382
HP:0001123	Visual field defect	1261	CNGA3	ORPHA:1872
HP:0001123	Visual field defect	54714	CNGB3	ORPHA:49382
HP:0001123	Visual field defect	54714	CNGB3	ORPHA:827
HP:0001123	Visual field defect	83394	PITPNM3	OMIM:600977
HP:0001123	Visual field defect	83394	PITPNM3	ORPHA:1872
HP:0001123	Visual field defect	9364	RAB28	OMIM:615374
HP:0001123	Visual field defect	9364	RAB28	ORPHA:1872
HP:0001123	Visual field defect	8842	PROM1	OMIM:608051
HP:0001123	Visual field defect	8842	PROM1	ORPHA:827
HP:0001123	Visual field defect	8842	PROM1	ORPHA:1872
HP:0001123	Visual field defect	8842	PROM1	OMIM:612657
HP:0001123	Visual field defect	6785	ELOVL4	ORPHA:827
HP:0001123	Visual field defect	344658	SAMD7	OMIM:620762
HP:0001123	Visual field defect	27349	MCAT	OMIM:620583
HP:0001123	Visual field defect	256471	MFSD8	OMIM:616170
HP:0001123	Visual field defect	2232	FDXR	ORPHA:543470
HP:0001123	Visual field defect	9445	ITM2B	OMIM:616079
HP:0001123	Visual field defect	51102	MECR	OMIM:620629
HP:0001123	Visual field defect	755	CFAP410	OMIM:617547
HP:0001123	Visual field defect	755	CFAP410	ORPHA:1872
HP:0001123	Visual field defect	64802	NMNAT1	ORPHA:1872
HP:0001123	Visual field defect	5956	OPN1LW	ORPHA:1872
HP:0001123	Visual field defect	8754	ADAM9	ORPHA:1872
HP:0001123	Visual field defect	3000	GUCY2D	ORPHA:1872
HP:0001123	Visual field defect	22999	RIMS1	ORPHA:1872
HP:0001123	Visual field defect	128338	DRAM2	ORPHA:1872
HP:0001123	Visual field defect	2652	OPN1MW	ORPHA:1872
HP:0001123	Visual field defect	2978	GUCA1A	ORPHA:1872
HP:0001123	Visual field defect	23093	TTLL5	ORPHA:1872
HP:0001123	Visual field defect	83723	TLCD3B	ORPHA:1872
HP:0001123	Visual field defect	9927	MFN2	OMIM:601152
HP:0001123	Visual field defect	26191	PTPN22	ORPHA:397
HP:0001123	Visual field defect	3106	HLA-B	ORPHA:397
HP:0001123	Visual field defect	3123	HLA-DRB1	ORPHA:397
HP:0001123	Visual field defect	8974	P4HA2	ORPHA:397
HP:0001123	Visual field defect	7399	USH2A	OMIM:613809
HP:0001123	Visual field defect	4352	MPL	ORPHA:71493
HP:0001123	Visual field defect	7066	THPO	ORPHA:71493
HP:0001123	Visual field defect	3717	JAK2	ORPHA:71493
HP:0001123	Visual field defect	7840	ALMS1	ORPHA:64
HP:0001123	Visual field defect	7025	NR2F1	ORPHA:401777
HP:0001123	Visual field defect	7025	NR2F1	OMIM:615722
HP:0001123	Visual field defect	91574	MTRFR	ORPHA:254930
HP:0001123	Visual field defect	4117	MAK	OMIM:614181
HP:0001123	Visual field defect	3769	KCNJ13	OMIM:614186
HP:0001123	Visual field defect	2202	EFEMP1	OMIM:611276
HP:0001123	Visual field defect	7439	BEST1	ORPHA:1243
HP:0001123	Visual field defect	7439	BEST1	ORPHA:99000
HP:0001123	Visual field defect	6010	RHO	OMIM:613731
HP:0001123	Visual field defect	6010	RHO	OMIM:610445
HP:0001123	Visual field defect	1282	COL4A1	OMIM:175780
HP:0001123	Visual field defect	51816	ADA2	ORPHA:820
HP:0001123	Visual field defect	10283	CWC27	ORPHA:166035
HP:0001123	Visual field defect	4072	EPCAM	ORPHA:144
HP:0001123	Visual field defect	4292	MLH1	ORPHA:144
HP:0001123	Visual field defect	5395	PMS2	ORPHA:144
HP:0001123	Visual field defect	7048	TGFBR2	ORPHA:144
HP:0001123	Visual field defect	3845	KRAS	ORPHA:144
HP:0001123	Visual field defect	5290	PIK3CA	ORPHA:144
HP:0001123	Visual field defect	2956	MSH6	ORPHA:144
HP:0001123	Visual field defect	5378	PMS1	ORPHA:144
HP:0001123	Visual field defect	4436	MSH2	ORPHA:144
HP:0001123	Visual field defect	6011	GRK1	ORPHA:75382
HP:0001123	Visual field defect	6295	SAG	ORPHA:75382
HP:0001123	Visual field defect	200205	IBA57	ORPHA:468661
HP:0001123	Visual field defect	200205	IBA57	OMIM:616451
HP:0001123	Visual field defect	6017	RLBP1	ORPHA:85128
HP:0001123	Visual field defect	50939	IMPG2	OMIM:613581
HP:0001123	Visual field defect	50939	IMPG2	ORPHA:99000
HP:0001123	Visual field defect	64218	SEMA4A	ORPHA:440437
HP:0001123	Visual field defect	472	ATM	ORPHA:440437
HP:0001123	Visual field defect	5426	POLE	ORPHA:440437
HP:0001123	Visual field defect	675	BRCA2	ORPHA:440437
HP:0001123	Visual field defect	657	BMPR1A	ORPHA:440437
HP:0001123	Visual field defect	6224	RPS20	ORPHA:440437
HP:0001123	Visual field defect	4595	MUTYH	ORPHA:440437
HP:0001123	Visual field defect	5424	POLD1	ORPHA:440437
HP:0001123	Visual field defect	11200	CHEK2	ORPHA:440437
HP:0001123	Visual field defect	57709	SLC7A14	OMIM:615725
HP:0001123	Visual field defect	4488	MSX2	OMIM:604757
HP:0001123	Visual field defect	10210	TOPORS	OMIM:609923
HP:0001123	Visual field defect	84196	USP48	ORPHA:96253
HP:0001123	Visual field defect	7157	TP53	ORPHA:96253
HP:0001123	Visual field defect	9101	USP8	ORPHA:96253
HP:0001123	Visual field defect	64072	CDH23	ORPHA:96253
HP:0001123	Visual field defect	2908	NR3C1	ORPHA:96253
HP:0001123	Visual field defect	673	BRAF	ORPHA:96253
HP:0001123	Visual field defect	546	ATRX	ORPHA:96253
HP:0001123	Visual field defect	5961	PRPH2	ORPHA:99000
HP:0001123	Visual field defect	3617	IMPG1	ORPHA:99000
HP:0001123	Visual field defect	23370	ARHGEF18	OMIM:617433
HP:0001123	Visual field defect	1181	CLCN2	OMIM:615651
HP:0001123	Visual field defect	80781	COL18A1	OMIM:618880
HP:0001123	Visual field defect	2395	FXN	OMIM:229300
HP:0001123	Visual field defect	138050	HGSNAT	OMIM:616544
HP:0001123	Visual field defect	83550	GPR101	ORPHA:963
HP:0001123	Visual field defect	9049	AIP	ORPHA:963
HP:0001123	Visual field defect	2776	GNAQ	ORPHA:3205
HP:0001123	Visual field defect	7401	CLRN1	OMIM:276902
HP:0001123	Visual field defect	11277	TREX1	ORPHA:247691
HP:0001123	Visual field defect	79152	FA2H	ORPHA:329308
HP:0001123	Visual field defect	4327	MMP19	OMIM:611543
HP:0001123	Visual field defect	1462	VCAN	OMIM:143200
HP:0001123	Visual field defect	55901	THSD1	ORPHA:231160
HP:0001123	Visual field defect	7049	TGFBR3	ORPHA:231160
HP:0001123	Visual field defect	1281	COL3A1	ORPHA:231160
HP:0001123	Visual field defect	83854	ANGPTL6	ORPHA:231160
HP:0001123	Visual field defect	2022	ENG	ORPHA:231160
HP:0001123	Visual field defect	285440	CYP4V2	ORPHA:41751
HP:0001123	Visual field defect	7078	TIMP3	ORPHA:59181
HP:0001123	Visual field defect	50964	SOST	OMIM:269500
HP:0001123	Visual field defect	7287	TULP1	OMIM:600132
HP:0001123	Visual field defect	7287	TULP1	OMIM:613843
HP:0001123	Visual field defect	26160	IFT172	OMIM:619471
HP:0001123	Visual field defect	26121	PRPF31	OMIM:600138
HP:0001123	Visual field defect	10594	PRPF8	OMIM:600059
HP:0001123	Visual field defect	1121	CHM	OMIM:303100
HP:0001123	Visual field defect	1121	CHM	ORPHA:180
HP:0001123	Visual field defect	5949	RBP3	OMIM:615233
HP:0001123	Visual field defect	5949	RBP3	OMIM:268000
HP:0001123	Visual field defect	583	BBS2	OMIM:616562
HP:0001123	Visual field defect	84839	RAX2	OMIM:620102
HP:0001123	Visual field defect	23600	AMACR	OMIM:614307
HP:0001123	Visual field defect	6094	ROM1	OMIM:608133
HP:0001123	Visual field defect	6094	ROM1	OMIM:268000
HP:0001123	Visual field defect	10059	DNM1L	OMIM:610708
HP:0001123	Visual field defect	157657	CFAP418	OMIM:268000
HP:0001123	Visual field defect	157657	CFAP418	OMIM:617406
HP:0001123	Visual field defect	9227	LRAT	OMIM:268000
HP:0001123	Visual field defect	1259	CNGA1	OMIM:268000
HP:0001123	Visual field defect	5148	PDE6G	OMIM:268000
HP:0001123	Visual field defect	5148	PDE6G	OMIM:613582
HP:0001123	Visual field defect	23746	AIPL1	OMIM:268000
HP:0001123	Visual field defect	1406	CRX	OMIM:268000
HP:0001123	Visual field defect	1406	CRX	OMIM:120970
HP:0001123	Visual field defect	84100	ARL6	OMIM:268000
HP:0001123	Visual field defect	3098	HK1	OMIM:617460
HP:0001123	Visual field defect	92211	CDHR1	OMIM:613660
HP:0001123	Visual field defect	3420	IDH3B	OMIM:612572
HP:0001123	Visual field defect	24148	PRPF6	OMIM:613983
HP:0001123	Visual field defect	92840	REEP6	OMIM:617304
HP:0001123	Visual field defect	10461	MERTK	OMIM:613862
HP:0001123	Visual field defect	79947	DHDDS	OMIM:613861
HP:0001123	Visual field defect	9128	PRPF4	OMIM:615922
HP:0001123	Visual field defect	3419	IDH3A	OMIM:619007
HP:0001123	Visual field defect	57545	CC2D2A	OMIM:619845
HP:0001123	Visual field defect	9371	KIF3B	OMIM:618955
HP:0001123	Visual field defect	93589	CACNA2D4	OMIM:610478
HP:0001123	Visual field defect	84140	FAM161A	OMIM:606068
HP:0001123	Visual field defect	57096	RPGRIP1	OMIM:613826
HP:0001123	Visual field defect	57096	RPGRIP1	OMIM:608194
HP:0001123	Visual field defect	5191	PEX7	OMIM:614879
HP:0001123	Visual field defect	54471	MIEF1	OMIM:620550
HP:0001123	Visual field defect	4942	OAT	ORPHA:414
HP:0001123	Visual field defect	55670	PEX26	ORPHA:772
HP:0001123	Visual field defect	5824	PEX19	ORPHA:772
HP:0001123	Visual field defect	5828	PEX2	ORPHA:772
HP:0001123	Visual field defect	8504	PEX3	ORPHA:772
HP:0001123	Visual field defect	9409	PEX16	ORPHA:772
HP:0001123	Visual field defect	5190	PEX6	ORPHA:772
HP:0001123	Visual field defect	8799	PEX11B	ORPHA:772
HP:0001123	Visual field defect	5830	PEX5	ORPHA:772
HP:0001123	Visual field defect	5189	PEX1	ORPHA:772
HP:0001123	Visual field defect	5193	PEX12	ORPHA:772
HP:0001123	Visual field defect	5194	PEX13	ORPHA:772
HP:0001123	Visual field defect	5195	PEX14	ORPHA:772
HP:0001123	Visual field defect	5192	PEX10	ORPHA:772
HP:0001123	Visual field defect	346007	EYS	OMIM:602772
HP:0001123	Visual field defect	6452	SH3BP2	OMIM:118400
HP:0001123	Visual field defect	326	AIRE	OMIM:240300
HP:0001123	Visual field defect	79797	ZNF408	OMIM:616469
HP:0001123	Visual field defect	282809	POC1B	OMIM:615973
HP:0001123	Visual field defect	4901	NRL	OMIM:613750
HP:0001123	Visual field defect	10002	NR2E3	OMIM:611131
HP:0001123	Visual field defect	8565	YARS1	OMIM:619418
HP:0001123	Visual field defect	64834	ELOVL1	OMIM:618527
HP:0001123	Visual field defect	2779	GNAT1	OMIM:616389
HP:0001123	Visual field defect	80201	HKDC1	OMIM:619614
HP:0001123	Visual field defect	6100	RP9	OMIM:180104
HP:0001123	Visual field defect	55812	SPATA7	OMIM:604232
HP:0001123	Visual field defect	6102	RP2	OMIM:312600
HP:0001123	Visual field defect	84233	TMEM126A	OMIM:612989
HP:0001123	Visual field defect	4508	MT-ATP6	ORPHA:644
HP:0001123	Visual field defect	3614	IMPDH1	OMIM:180105
HP:0001123	Visual field defect	1678	TIMM8A	OMIM:304700
HP:0001123	Visual field defect	403	ARL3	OMIM:618173
HP:0001123	Visual field defect	6103	RPGR	OMIM:300029
HP:0001123	Visual field defect	8481	OFD1	OMIM:300424
HP:0001123	Visual field defect	24	ABCA4	OMIM:601718
HP:0001123	Visual field defect	55857	KIZ	OMIM:615780
HP:0001123	Visual field defect	55624	POMGNT1	OMIM:617123
HP:0001123	Visual field defect	51109	RDH11	ORPHA:436245
HP:0001123	Visual field defect	375298	CERKL	OMIM:608380
HP:0001123	Visual field defect	5995	RGR	OMIM:613769
HP:0001123	Visual field defect	8216	LZTR1	OMIM:605275
HP:0001123	Visual field defect	4976	OPA1	ORPHA:1215
HP:0001123	Visual field defect	1545	CYP1B1	ORPHA:98977
HP:0001123	Visual field defect	4653	MYOC	ORPHA:98977
HP:0001123	Visual field defect	136371	ASB10	OMIM:603383
HP:0001123	Visual field defect	5959	RDH5	ORPHA:52427
HP:0001123	Visual field defect	1499	CTNNB1	ORPHA:54595
HP:0001123	Visual field defect	130557	ZNF513	ORPHA:791
HP:0001123	Visual field defect	130557	ZNF513	OMIM:613617
HP:0001123	Visual field defect	582	BBS1	ORPHA:791
HP:0001123	Visual field defect	582	BBS1	OMIM:209900
HP:0001123	Visual field defect	23568	ARL2BP	ORPHA:791
HP:0001123	Visual field defect	6121	RPE65	ORPHA:791
HP:0001123	Visual field defect	6121	RPE65	ORPHA:364055
HP:0001123	Visual field defect	6121	RPE65	OMIM:618697
HP:0001123	Visual field defect	54806	AHI1	ORPHA:791
HP:0001123	Visual field defect	4751	NEK2	ORPHA:791
HP:0001123	Visual field defect	8100	IFT88	ORPHA:791
HP:0001123	Visual field defect	23020	SNRNP200	ORPHA:791
HP:0001123	Visual field defect	762	CA4	ORPHA:791
HP:0001123	Visual field defect	196	AHR	ORPHA:791
HP:0001123	Visual field defect	123016	TTC8	ORPHA:791
HP:0001123	Visual field defect	25794	FSCN2	ORPHA:791
HP:0001123	Visual field defect	57670	KIAA1549	ORPHA:791
HP:0001123	Visual field defect	7275	TUB	ORPHA:791
HP:0001123	Visual field defect	23418	CRB1	ORPHA:791
HP:0001123	Visual field defect	768206	PRCD	ORPHA:791
HP:0001123	Visual field defect	5145	PDE6A	ORPHA:791
HP:0001123	Visual field defect	5145	PDE6A	OMIM:613810
HP:0001123	Visual field defect	145226	RDH12	ORPHA:791
HP:0001123	Visual field defect	49855	SCAPER	ORPHA:791
HP:0001123	Visual field defect	9742	IFT140	ORPHA:791
HP:0001123	Visual field defect	9742	IFT140	OMIM:266920
HP:0001123	Visual field defect	2979	GUCA1B	ORPHA:791
HP:0001123	Visual field defect	1258	CNGB1	ORPHA:791
HP:0001123	Visual field defect	1258	CNGB1	OMIM:613767
HP:0001123	Visual field defect	60509	AGBL5	ORPHA:791
HP:0001123	Visual field defect	60509	AGBL5	OMIM:617023
HP:0001123	Visual field defect	388939	PCARE	ORPHA:791
HP:0001123	Visual field defect	9785	DHX38	ORPHA:791
HP:0001123	Visual field defect	55975	KLHL7	ORPHA:791
HP:0001123	Visual field defect	94137	RP1L1	ORPHA:791
HP:0001123	Visual field defect	5158	PDE6B	ORPHA:791
HP:0001123	Visual field defect	6389	SDHA	OMIM:619259
HP:0001123	Visual field defect	50484	RRM2B	OMIM:268315
HP:0001123	Visual field defect	3423	IDS	ORPHA:217085
HP:0001123	Visual field defect	3423	IDS	ORPHA:217093
HP:0001123	Visual field defect	79140	CCDC28B	OMIM:209900
HP:0001123	Visual field defect	6533	SLC6A6	OMIM:145350
HP:0001123	Visual field defect	1737	DLAT	ORPHA:79244
HP:0001123	Visual field defect	167691	LCA5	ORPHA:364055
HP:0001123	Visual field defect	100151683	RNU4ATAC	OMIM:226960
HP:0001123	Visual field defect	79628	SH3TC2	ORPHA:99949
HP:0001123	Visual field defect	5456	POU3F4	ORPHA:1435
HP:0001123	Visual field defect	5428	POLG	ORPHA:254881
HP:0001123	Visual field defect	4574	MT-TS1	OMIM:540000
HP:0001123	Visual field defect	4535	MT-ND1	OMIM:540000
HP:0001123	Visual field defect	4567	MT-TL1	OMIM:540000
HP:0001123	Visual field defect	4512	MT-CO1	OMIM:540000
HP:0001123	Visual field defect	4513	MT-CO2	OMIM:540000
HP:0001123	Visual field defect	4514	MT-CO3	OMIM:540000
HP:0001123	Visual field defect	4519	MT-CYB	OMIM:540000
HP:0001123	Visual field defect	4511	MT-TC	OMIM:540000
HP:0001123	Visual field defect	4572	MT-TQ	OMIM:540000
HP:0001123	Visual field defect	4577	MT-TV	OMIM:540000
HP:0001123	Visual field defect	4578	MT-TW	OMIM:540000
HP:0001123	Visual field defect	4558	MT-TF	OMIM:540000
HP:0001123	Visual field defect	4566	MT-TK	OMIM:540000
HP:0001123	Visual field defect	4540	MT-ND5	OMIM:540000
HP:0001123	Visual field defect	4541	MT-ND6	OMIM:540000
HP:0001123	Visual field defect	347733	TUBB2B	ORPHA:300573
HP:0001123	Visual field defect	16	AARS1	OMIM:619661
HP:0001123	Visual field defect	9692	PRORP	OMIM:619737
HP:0001123	Visual field defect	4221	MEN1	ORPHA:2965
HP:0001123	Visual field defect	8891	EIF2B3	OMIM:620313
HP:0001123	Visual field defect	2475	MTOR	ORPHA:99802
HP:0001123	Visual field defect	10000	AKT3	ORPHA:99802
HP:0001123	Visual field defect	55209	SETD5	ORPHA:404440
HP:0001123	Visual field defect	3075	CFH	ORPHA:75376
HP:0001123	Visual field defect	3426	CFI	ORPHA:75376
HP:0001123	Visual field defect	50	ACO2	OMIM:616289
HP:0001123	Visual field defect	51095	TRNT1	OMIM:616959
HP:0001123	Visual field defect	28982	FLVCR1	OMIM:609033
HP:0001123	Visual field defect	55605	KIF21A	ORPHA:45358
HP:0001123	Visual field defect	7846	TUBA1A	ORPHA:45358
HP:0001123	Visual field defect	401	PHOX2A	ORPHA:45358
HP:0001123	Visual field defect	10381	TUBB3	ORPHA:45358
HP:0001123	Visual field defect	84570	COL25A1	ORPHA:45358
HP:0001123	Visual field defect	8314	BAP1	ORPHA:2495
HP:0001123	Visual field defect	4771	NF2	ORPHA:2495
HP:0001123	Visual field defect	6598	SMARCB1	ORPHA:2495
HP:0001123	Visual field defect	5155	PDGFB	ORPHA:2495
HP:0001123	Visual field defect	84231	TRAF7	ORPHA:2495
HP:0001123	Visual field defect	6608	SMO	ORPHA:2495
HP:0001123	Visual field defect	207	AKT1	ORPHA:2495
HP:0001123	Visual field defect	7015	TERT	ORPHA:2495
HP:0001123	Visual field defect	51684	SUFU	ORPHA:2495
HP:0001123	Visual field defect	6605	SMARCE1	ORPHA:2495
HP:0001123	Visual field defect	84816	RTN4IP1	OMIM:616732
HP:0001123	Visual field defect	3105	HLA-A	ORPHA:179
HP:0001123	Visual field defect	7466	WFS1	OMIM:614296
HP:0007814	Retinal pigment epithelial mottling	2202	EFEMP1	ORPHA:75376
HP:0007814	Retinal pigment epithelial mottling	3075	CFH	ORPHA:75376
HP:0007814	Retinal pigment epithelial mottling	3426	CFI	ORPHA:75376
HP:0007814	Retinal pigment epithelial mottling	85465	SELENOI	ORPHA:506353
HP:0007814	Retinal pigment epithelial mottling	1497	CTNS	OMIM:219800
HP:0007814	Retinal pigment epithelial mottling	1497	CTNS	OMIM:219900
HP:0007814	Retinal pigment epithelial mottling	22926	ATF6	ORPHA:49382
HP:0007814	Retinal pigment epithelial mottling	5146	PDE6C	ORPHA:49382
HP:0007814	Retinal pigment epithelial mottling	6103	RPGR	ORPHA:49382
HP:0007814	Retinal pigment epithelial mottling	6103	RPGR	OMIM:304020
HP:0007814	Retinal pigment epithelial mottling	5149	PDE6H	ORPHA:49382
HP:0007814	Retinal pigment epithelial mottling	2780	GNAT2	ORPHA:49382
HP:0007814	Retinal pigment epithelial mottling	1261	CNGA3	ORPHA:49382
HP:0007814	Retinal pigment epithelial mottling	54714	CNGB3	ORPHA:49382
HP:0007814	Retinal pigment epithelial mottling	54714	CNGB3	ORPHA:827
HP:0007814	Retinal pigment epithelial mottling	1121	CHM	OMIM:303100
HP:0007814	Retinal pigment epithelial mottling	83394	PITPNM3	OMIM:600977
HP:0007814	Retinal pigment epithelial mottling	4935	GPR143	OMIM:300814
HP:0007814	Retinal pigment epithelial mottling	4683	NBN	OMIM:251260
HP:0007814	Retinal pigment epithelial mottling	1182	CLCN3	OMIM:619517
HP:0007814	Retinal pigment epithelial mottling	285440	CYP4V2	ORPHA:41751
HP:0007814	Retinal pigment epithelial mottling	8842	PROM1	ORPHA:827
HP:0007814	Retinal pigment epithelial mottling	5961	PRPH2	ORPHA:827
HP:0007814	Retinal pigment epithelial mottling	5961	PRPH2	ORPHA:52427
HP:0007814	Retinal pigment epithelial mottling	5961	PRPH2	ORPHA:75377
HP:0007814	Retinal pigment epithelial mottling	6785	ELOVL4	ORPHA:827
HP:0007814	Retinal pigment epithelial mottling	24	ABCA4	ORPHA:827
HP:0007814	Retinal pigment epithelial mottling	10383	TUBB4B	OMIM:617879
HP:0007814	Retinal pigment epithelial mottling	4329	ALDH6A1	OMIM:614105
HP:0007814	Retinal pigment epithelial mottling	26504	CNNM4	OMIM:217080
HP:0007814	Retinal pigment epithelial mottling	23761	PISD	OMIM:618889
HP:0007814	Retinal pigment epithelial mottling	6533	SLC6A6	OMIM:145350
HP:0007814	Retinal pigment epithelial mottling	64802	NMNAT1	OMIM:608553
HP:0007814	Retinal pigment epithelial mottling	5189	PEX1	OMIM:234580
HP:0007814	Retinal pigment epithelial mottling	4508	MT-ATP6	ORPHA:644
HP:0007814	Retinal pigment epithelial mottling	4508	MT-ATP6	OMIM:551500
HP:0007814	Retinal pigment epithelial mottling	6017	RLBP1	ORPHA:52427
HP:0007814	Retinal pigment epithelial mottling	6017	RLBP1	ORPHA:85128
HP:0007814	Retinal pigment epithelial mottling	6010	RHO	ORPHA:52427
HP:0007814	Retinal pigment epithelial mottling	5959	RDH5	ORPHA:52427
HP:0007814	Retinal pigment epithelial mottling	9227	LRAT	ORPHA:364055
HP:0007814	Retinal pigment epithelial mottling	55812	SPATA7	ORPHA:364055
HP:0007814	Retinal pigment epithelial mottling	6121	RPE65	ORPHA:364055
HP:0007814	Retinal pigment epithelial mottling	167691	LCA5	ORPHA:364055
HP:0007814	Retinal pigment epithelial mottling	56652	TWNK	OMIM:607459
HP:0007814	Retinal pigment epithelial mottling	5428	POLG	OMIM:607459
HP:0007814	Retinal pigment epithelial mottling	27072	VPS41	OMIM:619389
HP:0007814	Retinal pigment epithelial mottling	51098	IFT52	OMIM:617102
HP:0007814	Retinal pigment epithelial mottling	755	CFAP410	OMIM:617547
HP:0007814	Retinal pigment epithelial mottling	8449	DHX16	OMIM:618733
HP:0007814	Retinal pigment epithelial mottling	93589	CACNA2D4	OMIM:610478
HP:0007814	Retinal pigment epithelial mottling	57096	RPGRIP1	OMIM:613826
HP:0007814	Retinal pigment epithelial mottling	1161	ERCC8	OMIM:216400
HP:0007814	Retinal pigment epithelial mottling	3000	GUCY2D	ORPHA:75377
HP:0007814	Retinal pigment epithelial mottling	2978	GUCA1A	ORPHA:75377
HP:0001125	Transient unilateral blurring of vision	773	CACNA1A	OMIM:141500
HP:0001125	Transient unilateral blurring of vision	477	ATP1A2	OMIM:602481
HP:0001126	Cryptophthalmos	23426	GRIP1	OMIM:617667
HP:0001126	Cryptophthalmos	23426	GRIP1	ORPHA:2052
HP:0001126	Cryptophthalmos	341640	FREM2	OMIM:617666
HP:0001126	Cryptophthalmos	341640	FREM2	OMIM:123570
HP:0001126	Cryptophthalmos	341640	FREM2	ORPHA:2052
HP:0001126	Cryptophthalmos	158326	FREM1	ORPHA:2717
HP:0001126	Cryptophthalmos	158326	FREM1	OMIM:248450
HP:0001126	Cryptophthalmos	10586	MAB21L2	OMIM:615877
HP:0001126	Cryptophthalmos	80144	FRAS1	ORPHA:2052
HP:0001126	Cryptophthalmos	80144	FRAS1	OMIM:219000
HP:0001126	Cryptophthalmos	117581	TWIST2	OMIM:200110
HP:0001126	Cryptophthalmos	117581	TWIST2	ORPHA:920
HP:0000510	Rod-cone dystrophy	65217	PCDH15	OMIM:601067
HP:0000510	Rod-cone dystrophy	65217	PCDH15	OMIM:602083
HP:0000510	Rod-cone dystrophy	64072	CDH23	OMIM:601067
HP:0000510	Rod-cone dystrophy	64072	CDH23	OMIM:601386
HP:0000510	Rod-cone dystrophy	261734	NPHP4	OMIM:606996
HP:0000510	Rod-cone dystrophy	25970	SH2B1	ORPHA:261222
HP:0000510	Rod-cone dystrophy	91452	ACBD5	OMIM:618863
HP:0000510	Rod-cone dystrophy	5949	RBP3	OMIM:615233
HP:0000510	Rod-cone dystrophy	5949	RBP3	OMIM:268000
HP:0000510	Rod-cone dystrophy	583	BBS2	OMIM:616562
HP:0000510	Rod-cone dystrophy	583	BBS2	OMIM:615981
HP:0000510	Rod-cone dystrophy	4598	MVK	OMIM:260920
HP:0000510	Rod-cone dystrophy	2677	GGCX	ORPHA:436274
HP:0000510	Rod-cone dystrophy	6010	RHO	OMIM:613731
HP:0000510	Rod-cone dystrophy	755	CFAP410	OMIM:602271
HP:0000510	Rod-cone dystrophy	130557	ZNF513	OMIM:613617
HP:0000510	Rod-cone dystrophy	6094	ROM1	OMIM:608133
HP:0000510	Rod-cone dystrophy	6094	ROM1	OMIM:268000
HP:0000510	Rod-cone dystrophy	5961	PRPH2	OMIM:608133
HP:0000510	Rod-cone dystrophy	91147	TMEM67	OMIM:602152
HP:0000510	Rod-cone dystrophy	91147	TMEM67	ORPHA:140976
HP:0000510	Rod-cone dystrophy	91147	TMEM67	OMIM:615991
HP:0000510	Rod-cone dystrophy	23126	POGZ	ORPHA:468678
HP:0000510	Rod-cone dystrophy	23126	POGZ	OMIM:616364
HP:0000510	Rod-cone dystrophy	4535	MT-ND1	ORPHA:255210
HP:0000510	Rod-cone dystrophy	4536	MT-ND2	ORPHA:255210
HP:0000510	Rod-cone dystrophy	4537	MT-ND3	ORPHA:255210
HP:0000510	Rod-cone dystrophy	4538	MT-ND4	ORPHA:255210
HP:0000510	Rod-cone dystrophy	4567	MT-TL1	ORPHA:255210
HP:0000510	Rod-cone dystrophy	4578	MT-TW	ORPHA:255210
HP:0000510	Rod-cone dystrophy	4577	MT-TV	ORPHA:255210
HP:0000510	Rod-cone dystrophy	4508	MT-ATP6	ORPHA:255210
HP:0000510	Rod-cone dystrophy	4508	MT-ATP6	ORPHA:254913
HP:0000510	Rod-cone dystrophy	4508	MT-ATP6	OMIM:551500
HP:0000510	Rod-cone dystrophy	4508	MT-ATP6	ORPHA:644
HP:0000510	Rod-cone dystrophy	4540	MT-ND5	ORPHA:255210
HP:0000510	Rod-cone dystrophy	4541	MT-ND6	ORPHA:255210
HP:0000510	Rod-cone dystrophy	4566	MT-TK	ORPHA:255210
HP:0000510	Rod-cone dystrophy	8842	PROM1	OMIM:612095
HP:0000510	Rod-cone dystrophy	6311	ATXN2	OMIM:183090
HP:0000510	Rod-cone dystrophy	24148	PRPF6	OMIM:613983
HP:0000510	Rod-cone dystrophy	92840	REEP6	OMIM:617304
HP:0000510	Rod-cone dystrophy	10461	MERTK	OMIM:613862
HP:0000510	Rod-cone dystrophy	79947	DHDDS	OMIM:613861
HP:0000510	Rod-cone dystrophy	9128	PRPF4	OMIM:615922
HP:0000510	Rod-cone dystrophy	57545	CC2D2A	OMIM:619845
HP:0000510	Rod-cone dystrophy	768206	PRCD	OMIM:610599
HP:0000510	Rod-cone dystrophy	84140	FAM161A	OMIM:606068
HP:0000510	Rod-cone dystrophy	23020	SNRNP200	OMIM:610359
HP:0000510	Rod-cone dystrophy	4646	MYO6	OMIM:607821
HP:0000510	Rod-cone dystrophy	7439	BEST1	OMIM:613194
HP:0000510	Rod-cone dystrophy	6103	RPGR	OMIM:300455
HP:0000510	Rod-cone dystrophy	6103	RPGR	ORPHA:244
HP:0000510	Rod-cone dystrophy	6103	RPGR	OMIM:300029
HP:0000510	Rod-cone dystrophy	4509	MT-ATP8	ORPHA:254913
HP:0000510	Rod-cone dystrophy	514	ATP5F1E	ORPHA:254913
HP:0000510	Rod-cone dystrophy	513	ATP5F1D	ORPHA:254913
HP:0000510	Rod-cone dystrophy	498	ATP5F1A	ORPHA:254913
HP:0000510	Rod-cone dystrophy	84833	ATP5MK	ORPHA:254913
HP:0000510	Rod-cone dystrophy	91647	ATPAF2	ORPHA:254913
HP:0000510	Rod-cone dystrophy	79797	ZNF408	OMIM:616469
HP:0000510	Rod-cone dystrophy	4901	NRL	OMIM:613750
HP:0000510	Rod-cone dystrophy	1259	CNGA1	OMIM:613756
HP:0000510	Rod-cone dystrophy	1259	CNGA1	OMIM:268000
HP:0000510	Rod-cone dystrophy	51109	RDH11	OMIM:616108
HP:0000510	Rod-cone dystrophy	51109	RDH11	ORPHA:436245
HP:0000510	Rod-cone dystrophy	84100	ARL6	OMIM:209900
HP:0000510	Rod-cone dystrophy	84100	ARL6	OMIM:600151
HP:0000510	Rod-cone dystrophy	84100	ARL6	OMIM:613575
HP:0000510	Rod-cone dystrophy	84100	ARL6	OMIM:268000
HP:0000510	Rod-cone dystrophy	79140	CCDC28B	OMIM:209900
HP:0000510	Rod-cone dystrophy	582	BBS1	OMIM:209900
HP:0000510	Rod-cone dystrophy	6295	SAG	OMIM:613758
HP:0000510	Rod-cone dystrophy	6295	SAG	OMIM:620228
HP:0000510	Rod-cone dystrophy	6295	SAG	ORPHA:75382
HP:0000510	Rod-cone dystrophy	1509	CTSD	OMIM:610127
HP:0000510	Rod-cone dystrophy	6100	RP9	OMIM:180104
HP:0000510	Rod-cone dystrophy	3614	IMPDH1	OMIM:180105
HP:0000510	Rod-cone dystrophy	24	ABCA4	OMIM:601718
HP:0000510	Rod-cone dystrophy	26090	ABHD12	OMIM:612674
HP:0000510	Rod-cone dystrophy	10352	WARS2	ORPHA:572798
HP:0000510	Rod-cone dystrophy	10352	WARS2	OMIM:617710
HP:0000510	Rod-cone dystrophy	55012	PPP2R3C	OMIM:618419
HP:0000510	Rod-cone dystrophy	1201	CLN3	OMIM:204200
HP:0000510	Rod-cone dystrophy	1258	CNGB1	OMIM:613767
HP:0000510	Rod-cone dystrophy	5995	RGR	OMIM:613769
HP:0000510	Rod-cone dystrophy	5373	PMM2	OMIM:212065
HP:0000510	Rod-cone dystrophy	5373	PMM2	ORPHA:79318
HP:0000510	Rod-cone dystrophy	491	ATP2B2	OMIM:601386
HP:0000510	Rod-cone dystrophy	1798	DPAGT1	ORPHA:86309
HP:0000510	Rod-cone dystrophy	7401	CLRN1	OMIM:614180
HP:0000510	Rod-cone dystrophy	7401	CLRN1	OMIM:268000
HP:0000510	Rod-cone dystrophy	7401	CLRN1	OMIM:276902
HP:0000510	Rod-cone dystrophy	10594	PRPF8	OMIM:600059
HP:0000510	Rod-cone dystrophy	25794	FSCN2	OMIM:607921
HP:0000510	Rod-cone dystrophy	4117	MAK	OMIM:614181
HP:0000510	Rod-cone dystrophy	157657	CFAP418	OMIM:614500
HP:0000510	Rod-cone dystrophy	157657	CFAP418	OMIM:268000
HP:0000510	Rod-cone dystrophy	157657	CFAP418	OMIM:617406
HP:0000510	Rod-cone dystrophy	5190	PEX6	OMIM:614863
HP:0000510	Rod-cone dystrophy	5190	PEX6	ORPHA:772
HP:0000510	Rod-cone dystrophy	5828	PEX2	OMIM:614866
HP:0000510	Rod-cone dystrophy	5828	PEX2	OMIM:614867
HP:0000510	Rod-cone dystrophy	5828	PEX2	ORPHA:772
HP:0000510	Rod-cone dystrophy	3098	HK1	OMIM:618547
HP:0000510	Rod-cone dystrophy	4191	MDH2	OMIM:617339
HP:0000510	Rod-cone dystrophy	6134	RPL10	ORPHA:459070
HP:0000510	Rod-cone dystrophy	6134	RPL10	OMIM:300998
HP:0000510	Rod-cone dystrophy	10518	CIB2	OMIM:614869
HP:0000510	Rod-cone dystrophy	6101	RP1	OMIM:180100
HP:0000510	Rod-cone dystrophy	124590	USH1G	OMIM:606943
HP:0000510	Rod-cone dystrophy	402	ARL2	OMIM:619082
HP:0000510	Rod-cone dystrophy	3913	LAMB2	OMIM:614199
HP:0000510	Rod-cone dystrophy	92211	CDHR1	OMIM:613660
HP:0000510	Rod-cone dystrophy	3420	IDH3B	OMIM:612572
HP:0000510	Rod-cone dystrophy	57709	SLC7A14	OMIM:615725
HP:0000510	Rod-cone dystrophy	388939	PCARE	OMIM:613428
HP:0000510	Rod-cone dystrophy	5191	PEX7	OMIM:614879
HP:0000510	Rod-cone dystrophy	5191	PEX7	OMIM:266500
HP:0000510	Rod-cone dystrophy	7355	SLC35A2	OMIM:300896
HP:0000510	Rod-cone dystrophy	9319	TRIP13	OMIM:617598
HP:0000510	Rod-cone dystrophy	50484	RRM2B	OMIM:268315
HP:0000510	Rod-cone dystrophy	64218	SEMA4A	OMIM:610282
HP:0000510	Rod-cone dystrophy	64218	SEMA4A	OMIM:610283
HP:0000510	Rod-cone dystrophy	7867	MAPKAPK3	OMIM:617111
HP:0000510	Rod-cone dystrophy	6121	RPE65	OMIM:613794
HP:0000510	Rod-cone dystrophy	10002	NR2E3	OMIM:611131
HP:0000510	Rod-cone dystrophy	2625	GATA3	ORPHA:2237
HP:0000510	Rod-cone dystrophy	2779	GNAT1	OMIM:616389
HP:0000510	Rod-cone dystrophy	80173	IFT74	OMIM:617119
HP:0000510	Rod-cone dystrophy	29929	ALG6	ORPHA:79320
HP:0000510	Rod-cone dystrophy	3166	HMX1	OMIM:612109
HP:0000510	Rod-cone dystrophy	25981	DNAH1	ORPHA:244
HP:0000510	Rod-cone dystrophy	115948	ODAD3	ORPHA:244
HP:0000510	Rod-cone dystrophy	54768	HYDIN	ORPHA:244
HP:0000510	Rod-cone dystrophy	352909	DNAAF3	ORPHA:244
HP:0000510	Rod-cone dystrophy	27148	STK36	ORPHA:244
HP:0000510	Rod-cone dystrophy	51314	NME8	ORPHA:244
HP:0000510	Rod-cone dystrophy	92749	DRC1	ORPHA:244
HP:0000510	Rod-cone dystrophy	54970	TTC12	ORPHA:244
HP:0000510	Rod-cone dystrophy	152110	NEK10	ORPHA:244
HP:0000510	Rod-cone dystrophy	8481	OFD1	ORPHA:244
HP:0000510	Rod-cone dystrophy	8481	OFD1	OMIM:300424
HP:0000510	Rod-cone dystrophy	8481	OFD1	OMIM:300804
HP:0000510	Rod-cone dystrophy	2302	FOXJ1	ORPHA:244
HP:0000510	Rod-cone dystrophy	221421	RSPH9	ORPHA:244
HP:0000510	Rod-cone dystrophy	85478	CCDC65	ORPHA:244
HP:0000510	Rod-cone dystrophy	55036	CCDC40	ORPHA:244
HP:0000510	Rod-cone dystrophy	51364	ZMYND10	ORPHA:244
HP:0000510	Rod-cone dystrophy	64446	DNAI2	ORPHA:244
HP:0000510	Rod-cone dystrophy	8382	NME5	ORPHA:244
HP:0000510	Rod-cone dystrophy	6674	SPAG1	ORPHA:244
HP:0000510	Rod-cone dystrophy	83544	DNAL1	ORPHA:244
HP:0000510	Rod-cone dystrophy	89765	RSPH1	ORPHA:244
HP:0000510	Rod-cone dystrophy	83538	ODAD4	ORPHA:244
HP:0000510	Rod-cone dystrophy	200373	CFAP221	ORPHA:244
HP:0000510	Rod-cone dystrophy	374407	DNAJB13	ORPHA:244
HP:0000510	Rod-cone dystrophy	55172	DNAAF2	ORPHA:244
HP:0000510	Rod-cone dystrophy	161582	DNAAF4	ORPHA:244
HP:0000510	Rod-cone dystrophy	2622	GAS8	ORPHA:244
HP:0000510	Rod-cone dystrophy	23639	DNAAF11	ORPHA:244
HP:0000510	Rod-cone dystrophy	27019	DNAI1	ORPHA:244
HP:0000510	Rod-cone dystrophy	345895	RSPH4A	ORPHA:244
HP:0000510	Rod-cone dystrophy	54919	DNAAF5	ORPHA:244
HP:0000510	Rod-cone dystrophy	85452	CFAP74	ORPHA:244
HP:0000510	Rod-cone dystrophy	93233	ODAD1	ORPHA:244
HP:0000510	Rod-cone dystrophy	55130	ODAD2	ORPHA:244
HP:0000510	Rod-cone dystrophy	1767	DNAH5	ORPHA:244
HP:0000510	Rod-cone dystrophy	83861	RSPH3	ORPHA:244
HP:0000510	Rod-cone dystrophy	345643	MCIDAS	ORPHA:244
HP:0000510	Rod-cone dystrophy	56683	CFAP298	ORPHA:244
HP:0000510	Rod-cone dystrophy	79925	SPEF2	ORPHA:244
HP:0000510	Rod-cone dystrophy	10309	CCNO	ORPHA:244
HP:0000510	Rod-cone dystrophy	115399	LRRC56	ORPHA:244
HP:0000510	Rod-cone dystrophy	139212	DNAAF6	ORPHA:244
HP:0000510	Rod-cone dystrophy	123872	DNAAF1	ORPHA:244
HP:0000510	Rod-cone dystrophy	85016	CFAP300	ORPHA:244
HP:0000510	Rod-cone dystrophy	339829	CCDC39	ORPHA:244
HP:0000510	Rod-cone dystrophy	8701	DNAH11	ORPHA:244
HP:0000510	Rod-cone dystrophy	1770	DNAH9	ORPHA:244
HP:0000510	Rod-cone dystrophy	246176	GAS2L2	ORPHA:244
HP:0000510	Rod-cone dystrophy	3329	HSPD1	ORPHA:100994
HP:0000510	Rod-cone dystrophy	3798	KIF5A	ORPHA:100991
HP:0000510	Rod-cone dystrophy	26160	IFT172	OMIM:616394
HP:0000510	Rod-cone dystrophy	26160	IFT172	OMIM:619471
HP:0000510	Rod-cone dystrophy	9742	IFT140	OMIM:266920
HP:0000510	Rod-cone dystrophy	80025	PANK2	ORPHA:216866
HP:0000510	Rod-cone dystrophy	25861	WHRN	OMIM:611383
HP:0000510	Rod-cone dystrophy	55212	BBS7	OMIM:615984
HP:0000510	Rod-cone dystrophy	123016	TTC8	OMIM:615985
HP:0000510	Rod-cone dystrophy	123016	TTC8	OMIM:613464
HP:0000510	Rod-cone dystrophy	585	BBS4	OMIM:615982
HP:0000510	Rod-cone dystrophy	129880	BBS5	OMIM:615983
HP:0000510	Rod-cone dystrophy	166379	BBS12	OMIM:615989
HP:0000510	Rod-cone dystrophy	27241	BBS9	OMIM:615986
HP:0000510	Rod-cone dystrophy	79738	BBS10	OMIM:615987
HP:0000510	Rod-cone dystrophy	7287	TULP1	OMIM:600132
HP:0000510	Rod-cone dystrophy	26121	PRPF31	OMIM:600138
HP:0000510	Rod-cone dystrophy	196	AHR	OMIM:618345
HP:0000510	Rod-cone dystrophy	80184	CEP290	OMIM:615991
HP:0000510	Rod-cone dystrophy	80184	CEP290	OMIM:610188
HP:0000510	Rod-cone dystrophy	80184	CEP290	OMIM:610189
HP:0000510	Rod-cone dystrophy	9785	DHX38	OMIM:618220
HP:0000510	Rod-cone dystrophy	54903	MKS1	OMIM:615990
HP:0000510	Rod-cone dystrophy	5193	PEX12	OMIM:266510
HP:0000510	Rod-cone dystrophy	5193	PEX12	ORPHA:772
HP:0000510	Rod-cone dystrophy	92482	BBIP1	OMIM:615995
HP:0000510	Rod-cone dystrophy	89891	DYNC2I2	OMIM:615633
HP:0000510	Rod-cone dystrophy	11020	IFT27	OMIM:615996
HP:0000510	Rod-cone dystrophy	10806	SDCCAG8	OMIM:615993
HP:0000510	Rod-cone dystrophy	54585	LZTFL1	OMIM:615994
HP:0000510	Rod-cone dystrophy	23078	VWA8	OMIM:620422
HP:0000510	Rod-cone dystrophy	23600	AMACR	OMIM:614307
HP:0000510	Rod-cone dystrophy	9227	LRAT	OMIM:268000
HP:0000510	Rod-cone dystrophy	9227	LRAT	OMIM:613341
HP:0000510	Rod-cone dystrophy	5148	PDE6G	OMIM:268000
HP:0000510	Rod-cone dystrophy	5148	PDE6G	OMIM:613582
HP:0000510	Rod-cone dystrophy	23746	AIPL1	OMIM:268000
HP:0000510	Rod-cone dystrophy	1406	CRX	OMIM:268000
HP:0000510	Rod-cone dystrophy	6017	RLBP1	ORPHA:85128
HP:0000510	Rod-cone dystrophy	5264	PHYH	OMIM:266500
HP:0000510	Rod-cone dystrophy	50939	IMPG2	OMIM:613581
HP:0000510	Rod-cone dystrophy	60509	AGBL5	OMIM:617023
HP:0000510	Rod-cone dystrophy	443	ASPA	ORPHA:314918
HP:0000510	Rod-cone dystrophy	346007	EYS	OMIM:602772
HP:0000510	Rod-cone dystrophy	4694	NDUFA1	OMIM:301020
HP:0000510	Rod-cone dystrophy	27235	COQ2	OMIM:607426
HP:0000510	Rod-cone dystrophy	28982	FLVCR1	ORPHA:88628
HP:0000510	Rod-cone dystrophy	28982	FLVCR1	OMIM:609033
HP:0000510	Rod-cone dystrophy	4704	NDUFA9	OMIM:618247
HP:0000510	Rod-cone dystrophy	5631	PRPS1	OMIM:311070
HP:0000510	Rod-cone dystrophy	8120	AP3B2	OMIM:617276
HP:0000510	Rod-cone dystrophy	55975	KLHL7	OMIM:612943
HP:0000510	Rod-cone dystrophy	55975	KLHL7	OMIM:617055
HP:0000510	Rod-cone dystrophy	26146	TRAF3IP1	OMIM:616629
HP:0000510	Rod-cone dystrophy	2232	FDXR	OMIM:617717
HP:0000510	Rod-cone dystrophy	6102	RP2	OMIM:312600
HP:0000510	Rod-cone dystrophy	4647	MYO7A	OMIM:276900
HP:0000510	Rod-cone dystrophy	10083	USH1C	OMIM:276900
HP:0000510	Rod-cone dystrophy	10083	USH1C	OMIM:276904
HP:0000510	Rod-cone dystrophy	4547	MTTP	ORPHA:14
HP:0000510	Rod-cone dystrophy	7399	USH2A	OMIM:276901
HP:0000510	Rod-cone dystrophy	7399	USH2A	OMIM:613809
HP:0000510	Rod-cone dystrophy	79955	PDZD7	OMIM:276901
HP:0000510	Rod-cone dystrophy	79955	PDZD7	OMIM:605472
HP:0000510	Rod-cone dystrophy	23418	CRB1	OMIM:600105
HP:0000510	Rod-cone dystrophy	55857	KIZ	OMIM:615780
HP:0000510	Rod-cone dystrophy	149461	CLDN19	OMIM:248190
HP:0000510	Rod-cone dystrophy	8195	MKKS	OMIM:605231
HP:0000510	Rod-cone dystrophy	5158	PDE6B	OMIM:613801
HP:0000510	Rod-cone dystrophy	3028	HSD17B10	ORPHA:391428
HP:0000510	Rod-cone dystrophy	84059	ADGRV1	OMIM:605472
HP:0000510	Rod-cone dystrophy	51095	TRNT1	OMIM:616084
HP:0000510	Rod-cone dystrophy	23568	ARL2BP	OMIM:615434
HP:0000510	Rod-cone dystrophy	9894	TELO2	ORPHA:488642
HP:0000510	Rod-cone dystrophy	338	APOB	OMIM:615558
HP:0000510	Rod-cone dystrophy	5145	PDE6A	OMIM:613810
HP:0000510	Rod-cone dystrophy	10283	CWC27	OMIM:250410
HP:0000510	Rod-cone dystrophy	10283	CWC27	ORPHA:166035
HP:0000510	Rod-cone dystrophy	6011	GRK1	ORPHA:75382
HP:0000510	Rod-cone dystrophy	9129	PRPF3	OMIM:601414
HP:0000510	Rod-cone dystrophy	5189	PEX1	OMIM:601539
HP:0000510	Rod-cone dystrophy	5189	PEX1	ORPHA:772
HP:0000510	Rod-cone dystrophy	4751	NEK2	OMIM:615565
HP:0000510	Rod-cone dystrophy	9371	KIF3B	OMIM:618955
HP:0000510	Rod-cone dystrophy	617	BCS1L	OMIM:124000
HP:0000510	Rod-cone dystrophy	2979	GUCA1B	OMIM:613827
HP:0000510	Rod-cone dystrophy	9657	IQCB1	OMIM:609254
HP:0000510	Rod-cone dystrophy	55670	PEX26	ORPHA:772
HP:0000510	Rod-cone dystrophy	5824	PEX19	ORPHA:772
HP:0000510	Rod-cone dystrophy	8504	PEX3	ORPHA:772
HP:0000510	Rod-cone dystrophy	9409	PEX16	ORPHA:772
HP:0000510	Rod-cone dystrophy	8799	PEX11B	ORPHA:772
HP:0000510	Rod-cone dystrophy	5830	PEX5	ORPHA:772
HP:0000510	Rod-cone dystrophy	5194	PEX13	ORPHA:772
HP:0000510	Rod-cone dystrophy	5195	PEX14	ORPHA:772
HP:0000510	Rod-cone dystrophy	5192	PEX10	ORPHA:772
HP:0000510	Rod-cone dystrophy	51	ACOX1	OMIM:264470
HP:0000510	Rod-cone dystrophy	403	ARL3	OMIM:618161
HP:0000510	Rod-cone dystrophy	403	ARL3	OMIM:618173
HP:0000510	Rod-cone dystrophy	10210	TOPORS	OMIM:609923
HP:0000510	Rod-cone dystrophy	138050	HGSNAT	OMIM:616544
HP:0000510	Rod-cone dystrophy	138050	HGSNAT	OMIM:252930
HP:0000510	Rod-cone dystrophy	57728	WDR19	OMIM:616307
HP:0000510	Rod-cone dystrophy	57728	WDR19	OMIM:614378
HP:0000510	Rod-cone dystrophy	253827	MSRB3	OMIM:613718
HP:0000510	Rod-cone dystrophy	79644	SRD5A3	ORPHA:324737
HP:0000510	Rod-cone dystrophy	23404	EXOSC2	OMIM:617763
HP:0000510	Rod-cone dystrophy	375298	CERKL	OMIM:608380
HP:0001128	Trichiasis	1387	CREBBP	ORPHA:353277
HP:0001128	Trichiasis	2706	GJB2	OMIM:148210
HP:0001128	Trichiasis	2033	EP300	ORPHA:353284
HP:0001128	Trichiasis	54892	NCAPG2	OMIM:618460
HP:0001129	Large central visual field defect	285440	CYP4V2	ORPHA:41751
HP:0001129	Large central visual field defect	7078	TIMP3	ORPHA:59181
HP:0001129	Large central visual field defect	6017	RLBP1	ORPHA:85128
HP:0430074	Increased circulating beta-carotene concentration	53630	BCO1	OMIM:115300
HP:0430072	Abnormal circulating beta-carotene concentration	53630	BCO1	OMIM:115300
HP:0430071	Abnormal circulating organic compound concentration	1373	CPS1	ORPHA:147
HP:0430071	Abnormal circulating organic compound concentration	1373	CPS1	OMIM:237300
HP:0430071	Abnormal circulating organic compound concentration	5009	OTC	OMIM:311250
HP:0430071	Abnormal circulating organic compound concentration	435	ASL	OMIM:207900
HP:0430071	Abnormal circulating organic compound concentration	445	ASS1	OMIM:215700
HP:0430071	Abnormal circulating organic compound concentration	10128	LRPPRC	OMIM:220111
HP:0430071	Abnormal circulating organic compound concentration	3155	HMGCL	ORPHA:20
HP:0430071	Abnormal circulating organic compound concentration	3155	HMGCL	OMIM:246450
HP:0430071	Abnormal circulating organic compound concentration	3376	IARS1	OMIM:617093
HP:0430071	Abnormal circulating organic compound concentration	26235	FBXL4	OMIM:615471
HP:0430071	Abnormal circulating organic compound concentration	763	CA5A	OMIM:615751
HP:0430071	Abnormal circulating organic compound concentration	25821	MTO1	OMIM:614702
HP:0430071	Abnormal circulating organic compound concentration	3032	HADHB	OMIM:620300
HP:0430071	Abnormal circulating organic compound concentration	10102	TSFM	OMIM:610505
HP:0430071	Abnormal circulating organic compound concentration	5095	PCCA	ORPHA:35
HP:0430071	Abnormal circulating organic compound concentration	5095	PCCA	OMIM:606054
HP:0430071	Abnormal circulating organic compound concentration	5096	PCCB	ORPHA:35
HP:0430071	Abnormal circulating organic compound concentration	5096	PCCB	OMIM:606054
HP:0430071	Abnormal circulating organic compound concentration	56945	MRPS22	OMIM:611719
HP:0430071	Abnormal circulating organic compound concentration	3712	IVD	ORPHA:33
HP:0430071	Abnormal circulating organic compound concentration	54968	TMEM70	ORPHA:1194
HP:0430071	Abnormal circulating organic compound concentration	54968	TMEM70	OMIM:614052
HP:0430071	Abnormal circulating organic compound concentration	4141	MARS1	OMIM:615486
HP:0430071	Abnormal circulating organic compound concentration	790	CAD	OMIM:616457
HP:0430071	Abnormal circulating organic compound concentration	10157	AASS	ORPHA:2203
HP:0430071	Abnormal circulating organic compound concentration	10157	AASS	ORPHA:3124
HP:0430071	Abnormal circulating organic compound concentration	3141	HLCS	OMIM:253270
HP:0430071	Abnormal circulating organic compound concentration	3141	HLCS	ORPHA:79242
HP:0430071	Abnormal circulating organic compound concentration	10166	SLC25A15	ORPHA:415
HP:0430071	Abnormal circulating organic compound concentration	10166	SLC25A15	OMIM:238970
HP:0430071	Abnormal circulating organic compound concentration	1340	COX6B1	OMIM:619051
HP:0430071	Abnormal circulating organic compound concentration	1738	DLD	ORPHA:2394
HP:0430071	Abnormal circulating organic compound concentration	60561	RINT1	OMIM:618641
HP:0430071	Abnormal circulating organic compound concentration	4509	MT-ATP8	ORPHA:254913
HP:0430071	Abnormal circulating organic compound concentration	514	ATP5F1E	ORPHA:254913
HP:0430071	Abnormal circulating organic compound concentration	513	ATP5F1D	ORPHA:254913
HP:0430071	Abnormal circulating organic compound concentration	513	ATP5F1D	OMIM:618120
HP:0430071	Abnormal circulating organic compound concentration	498	ATP5F1A	ORPHA:254913
HP:0430071	Abnormal circulating organic compound concentration	498	ATP5F1A	OMIM:620358
HP:0430071	Abnormal circulating organic compound concentration	4508	MT-ATP6	ORPHA:254913
HP:0430071	Abnormal circulating organic compound concentration	84833	ATP5MK	ORPHA:254913
HP:0430071	Abnormal circulating organic compound concentration	91647	ATPAF2	ORPHA:254913
HP:0430071	Abnormal circulating organic compound concentration	686	BTD	OMIM:253260
HP:0430071	Abnormal circulating organic compound concentration	686	BTD	ORPHA:79241
HP:0430071	Abnormal circulating organic compound concentration	64087	MCCC2	OMIM:210210
HP:0430071	Abnormal circulating organic compound concentration	64087	MCCC2	ORPHA:6
HP:0430071	Abnormal circulating organic compound concentration	128989	TANGO2	ORPHA:480864
HP:0430071	Abnormal circulating organic compound concentration	128989	TANGO2	OMIM:616878
HP:0430071	Abnormal circulating organic compound concentration	64121	RRAGC	OMIM:620609
HP:0430071	Abnormal circulating organic compound concentration	9971	NR1H4	OMIM:617049
HP:0430071	Abnormal circulating organic compound concentration	2752	GLUL	OMIM:610015
HP:0430071	Abnormal circulating organic compound concentration	284439	SLC25A42	OMIM:618416
HP:0430071	Abnormal circulating organic compound concentration	84947	SERAC1	OMIM:614739
HP:0430071	Abnormal circulating organic compound concentration	28976	ACAD9	ORPHA:99901
HP:0430071	Abnormal circulating organic compound concentration	788	SLC25A20	ORPHA:159
HP:0430071	Abnormal circulating organic compound concentration	788	SLC25A20	OMIM:212138
HP:0430071	Abnormal circulating organic compound concentration	383	ARG1	ORPHA:90
HP:0430071	Abnormal circulating organic compound concentration	383	ARG1	OMIM:207800
HP:0430071	Abnormal circulating organic compound concentration	51594	NBAS	OMIM:616483
HP:0430071	Abnormal circulating organic compound concentration	37	ACADVL	OMIM:201475
HP:0430071	Abnormal circulating organic compound concentration	37	ACADVL	ORPHA:26793
HP:0430071	Abnormal circulating organic compound concentration	54914	FOCAD	OMIM:619991
HP:0430071	Abnormal circulating organic compound concentration	162417	NAGS	OMIM:237310
HP:0430071	Abnormal circulating organic compound concentration	162417	NAGS	ORPHA:927
HP:0430071	Abnormal circulating organic compound concentration	5162	PDHB	OMIM:614111
HP:0430071	Abnormal circulating organic compound concentration	440138	ALG11	OMIM:613661
HP:0430071	Abnormal circulating organic compound concentration	3033	HADH	ORPHA:71212
HP:0430071	Abnormal circulating organic compound concentration	5832	ALDH18A1	OMIM:219150
HP:0430071	Abnormal circulating organic compound concentration	7284	TUFM	OMIM:610678
HP:0430071	Abnormal circulating organic compound concentration	3030	HADHA	OMIM:609015
HP:0430071	Abnormal circulating organic compound concentration	38	ACAT1	ORPHA:134
HP:0430071	Abnormal circulating organic compound concentration	34	ACADM	ORPHA:42
HP:0430071	Abnormal circulating organic compound concentration	1537	CYC1	OMIM:615453
HP:0430071	Abnormal circulating organic compound concentration	2806	GOT2	OMIM:618721
HP:0430071	Abnormal circulating organic compound concentration	29960	MRM2	OMIM:618567
HP:0430071	Abnormal circulating organic compound concentration	9451	EIF2AK3	ORPHA:1667
HP:0430071	Abnormal circulating organic compound concentration	506	ATP5F1B	OMIM:620085
HP:0430071	Abnormal circulating organic compound concentration	56922	MCCC1	ORPHA:6
HP:0430071	Abnormal circulating organic compound concentration	51117	COQ4	OMIM:616276
HP:0430071	Abnormal circulating organic compound concentration	79587	CARS2	OMIM:616672
HP:0430071	Abnormal circulating organic compound concentration	7388	UQCRH	OMIM:620137
HP:0430071	Abnormal circulating organic compound concentration	6584	SLC22A5	OMIM:212140
HP:0430071	Abnormal circulating organic compound concentration	3251	HPRT1	ORPHA:510
HP:0430071	Abnormal circulating organic compound concentration	3251	HPRT1	OMIM:300322
HP:0430071	Abnormal circulating organic compound concentration	3251	HPRT1	OMIM:300323
HP:0430071	Abnormal circulating organic compound concentration	3251	HPRT1	ORPHA:79233
HP:0430071	Abnormal circulating organic compound concentration	5972	REN	OMIM:613092
HP:0430071	Abnormal circulating organic compound concentration	229	ALDOB	OMIM:229600
HP:0430071	Abnormal circulating organic compound concentration	229	ALDOB	ORPHA:469
HP:0430071	Abnormal circulating organic compound concentration	29927	SEC61A1	OMIM:617056
HP:0430071	Abnormal circulating organic compound concentration	29927	SEC61A1	OMIM:620674
HP:0430071	Abnormal circulating organic compound concentration	5631	PRPS1	ORPHA:411543
HP:0430071	Abnormal circulating organic compound concentration	5631	PRPS1	ORPHA:411536
HP:0430071	Abnormal circulating organic compound concentration	5631	PRPS1	OMIM:300661
HP:0430071	Abnormal circulating organic compound concentration	6928	HNF1B	ORPHA:93111
HP:0430071	Abnormal circulating organic compound concentration	6928	HNF1B	OMIM:137920
HP:0430071	Abnormal circulating organic compound concentration	2203	FBP1	ORPHA:348
HP:0430071	Abnormal circulating organic compound concentration	4609	MYC	ORPHA:543
HP:0430071	Abnormal circulating organic compound concentration	4982	TNFRSF11B	ORPHA:2801
HP:0430071	Abnormal circulating organic compound concentration	4982	TNFRSF11B	OMIM:239000
HP:0430071	Abnormal circulating organic compound concentration	8792	TNFRSF11A	ORPHA:2801
HP:0430071	Abnormal circulating organic compound concentration	10686	CLDN16	OMIM:248250
HP:0430071	Abnormal circulating organic compound concentration	5213	PFKM	ORPHA:371
HP:0430071	Abnormal circulating organic compound concentration	5213	PFKM	OMIM:232800
HP:0430071	Abnormal circulating organic compound concentration	7369	UMOD	OMIM:162000
HP:0430071	Abnormal circulating organic compound concentration	5837	PYGM	OMIM:232600
HP:0430071	Abnormal circulating organic compound concentration	4582	MUC1	OMIM:174000
HP:0430071	Abnormal circulating organic compound concentration	54938	SARS2	OMIM:613845
HP:0430071	Abnormal circulating organic compound concentration	2731	GLDC	OMIM:605899
HP:0430071	Abnormal circulating organic compound concentration	100303755	PET117	OMIM:619063
HP:0430071	Abnormal circulating organic compound concentration	29968	PSAT1	ORPHA:284417
HP:0430071	Abnormal circulating organic compound concentration	1351	COX8A	OMIM:619059
HP:0430071	Abnormal circulating organic compound concentration	348932	SLC6A18	ORPHA:42062
HP:0430071	Abnormal circulating organic compound concentration	153201	SLC36A2	ORPHA:42062
HP:0430071	Abnormal circulating organic compound concentration	54716	SLC6A20	ORPHA:42062
HP:0430071	Abnormal circulating organic compound concentration	340024	SLC6A19	ORPHA:42062
HP:0430071	Abnormal circulating organic compound concentration	9054	NFS1	OMIM:619386
HP:0430071	Abnormal circulating organic compound concentration	200205	IBA57	OMIM:615330
HP:0430071	Abnormal circulating organic compound concentration	387787	LIPT2	OMIM:617668
HP:0430071	Abnormal circulating organic compound concentration	388962	BOLA3	OMIM:614299
HP:0430071	Abnormal circulating organic compound concentration	2653	GCSH	OMIM:620423
HP:0430071	Abnormal circulating organic compound concentration	83483	PLVAP	OMIM:618183
HP:0430071	Abnormal circulating organic compound concentration	201294	UNC13D	OMIM:608898
HP:0430071	Abnormal circulating organic compound concentration	201294	UNC13D	ORPHA:540
HP:0430071	Abnormal circulating organic compound concentration	286053	NSMCE2	OMIM:617253
HP:0430071	Abnormal circulating organic compound concentration	286053	NSMCE2	ORPHA:436182
HP:0430071	Abnormal circulating organic compound concentration	55388	MCM10	OMIM:619313
HP:0430071	Abnormal circulating organic compound concentration	63036	CELA2A	OMIM:618620
HP:0430071	Abnormal circulating organic compound concentration	331	XIAP	OMIM:300635
HP:0430071	Abnormal circulating organic compound concentration	4160	MC4R	ORPHA:71529
HP:0430071	Abnormal circulating organic compound concentration	3990	LIPC	OMIM:614025
HP:0430071	Abnormal circulating organic compound concentration	3990	LIPC	ORPHA:140905
HP:0430071	Abnormal circulating organic compound concentration	63924	CIDEC	OMIM:615238
HP:0430071	Abnormal circulating organic compound concentration	63924	CIDEC	ORPHA:435651
HP:0430071	Abnormal circulating organic compound concentration	857	CAV1	OMIM:612526
HP:0430071	Abnormal circulating organic compound concentration	857	CAV1	OMIM:606721
HP:0430071	Abnormal circulating organic compound concentration	857	CAV1	ORPHA:528
HP:0430071	Abnormal circulating organic compound concentration	100033413	SNORD116-1	OMIM:176270
HP:0430071	Abnormal circulating organic compound concentration	8924	HERC2	OMIM:176270
HP:0430071	Abnormal circulating organic compound concentration	23742	NPAP1	OMIM:176270
HP:0430071	Abnormal circulating organic compound concentration	338433	SNORD115-1	OMIM:176270
HP:0430071	Abnormal circulating organic compound concentration	54551	MAGEL2	OMIM:176270
HP:0430071	Abnormal circulating organic compound concentration	7681	MKRN3	OMIM:176270
HP:0430071	Abnormal circulating organic compound concentration	145624	PWAR1	OMIM:176270
HP:0430071	Abnormal circulating organic compound concentration	3653	IPW	OMIM:176270
HP:0430071	Abnormal circulating organic compound concentration	791114	PWRN1	OMIM:176270
HP:0430071	Abnormal circulating organic compound concentration	5551	PRF1	ORPHA:540
HP:0430071	Abnormal circulating organic compound concentration	5551	PRF1	OMIM:603553
HP:0430071	Abnormal circulating organic compound concentration	8676	STX11	ORPHA:540
HP:0430071	Abnormal circulating organic compound concentration	8676	STX11	OMIM:603552
HP:0430071	Abnormal circulating organic compound concentration	6813	STXBP2	ORPHA:540
HP:0430071	Abnormal circulating organic compound concentration	6813	STXBP2	OMIM:613101
HP:0430071	Abnormal circulating organic compound concentration	26580	BSCL2	ORPHA:363400
HP:0430071	Abnormal circulating organic compound concentration	26580	BSCL2	OMIM:615924
HP:0430071	Abnormal circulating organic compound concentration	26580	BSCL2	OMIM:269700
HP:0430071	Abnormal circulating organic compound concentration	26580	BSCL2	ORPHA:528
HP:0430071	Abnormal circulating organic compound concentration	84699	CREB3L3	OMIM:619324
HP:0430071	Abnormal circulating organic compound concentration	2137	EXTL3	OMIM:617425
HP:0430071	Abnormal circulating organic compound concentration	150	ADRA2A	OMIM:620679
HP:0430071	Abnormal circulating organic compound concentration	2314	FLII	ORPHA:819
HP:0430071	Abnormal circulating organic compound concentration	23096	IQSEC2	ORPHA:819
HP:0430071	Abnormal circulating organic compound concentration	10743	RAI1	ORPHA:819
HP:0430071	Abnormal circulating organic compound concentration	10743	RAI1	OMIM:182290
HP:0430071	Abnormal circulating organic compound concentration	10522	DEAF1	ORPHA:819
HP:0430071	Abnormal circulating organic compound concentration	3952	LEP	ORPHA:66628
HP:0430071	Abnormal circulating organic compound concentration	7486	WRN	OMIM:277700
HP:0430071	Abnormal circulating organic compound concentration	348	APOE	ORPHA:412
HP:0430071	Abnormal circulating organic compound concentration	2710	GK	OMIM:307030
HP:0430071	Abnormal circulating organic compound concentration	3604	TNFRSF9	OMIM:620282
HP:0430071	Abnormal circulating organic compound concentration	5699	PSMB10	OMIM:619175
HP:0430071	Abnormal circulating organic compound concentration	50619	DEF6	OMIM:619573
HP:0430071	Abnormal circulating organic compound concentration	3988	LIPA	OMIM:278000
HP:0430071	Abnormal circulating organic compound concentration	3988	LIPA	ORPHA:75234
HP:0430071	Abnormal circulating organic compound concentration	6573	SLC19A1	OMIM:620603
HP:0430071	Abnormal circulating organic compound concentration	5468	PPARG	ORPHA:79083
HP:0430071	Abnormal circulating organic compound concentration	5468	PPARG	OMIM:604367
HP:0430071	Abnormal circulating organic compound concentration	5468	PPARG	ORPHA:528
HP:0430071	Abnormal circulating organic compound concentration	9149	DYRK1B	OMIM:615812
HP:0430071	Abnormal circulating organic compound concentration	208	AKT2	ORPHA:79085
HP:0430071	Abnormal circulating organic compound concentration	5346	PLIN1	OMIM:613877
HP:0430071	Abnormal circulating organic compound concentration	5346	PLIN1	ORPHA:280356
HP:0430071	Abnormal circulating organic compound concentration	5257	PHKB	ORPHA:79240
HP:0430071	Abnormal circulating organic compound concentration	284654	RSPO1	OMIM:610644
HP:0430071	Abnormal circulating organic compound concentration	11145	PLAAT3	OMIM:620683
HP:0430071	Abnormal circulating organic compound concentration	83550	GPR101	ORPHA:963
HP:0430071	Abnormal circulating organic compound concentration	9049	AIP	ORPHA:963
HP:0430071	Abnormal circulating organic compound concentration	1581	CYP7A1	ORPHA:209902
HP:0430071	Abnormal circulating organic compound concentration	10555	AGPAT2	OMIM:608594
HP:0430071	Abnormal circulating organic compound concentration	10555	AGPAT2	ORPHA:528
HP:0430071	Abnormal circulating organic compound concentration	5130	PCYT1A	OMIM:620680
HP:0430071	Abnormal circulating organic compound concentration	1130	LYST	ORPHA:167
HP:0430071	Abnormal circulating organic compound concentration	5283	PIGH	OMIM:618010
HP:0430071	Abnormal circulating organic compound concentration	3953	LEPR	ORPHA:179494
HP:0430071	Abnormal circulating organic compound concentration	84984	CEP19	OMIM:615703
HP:0430071	Abnormal circulating organic compound concentration	84984	CEP19	ORPHA:110
HP:0430071	Abnormal circulating organic compound concentration	338328	GPIHBP1	OMIM:615947
HP:0430071	Abnormal circulating organic compound concentration	165	AEBP1	ORPHA:536532
HP:0430071	Abnormal circulating organic compound concentration	9056	SLC7A7	ORPHA:470
HP:0430071	Abnormal circulating organic compound concentration	92482	BBIP1	ORPHA:110
HP:0430071	Abnormal circulating organic compound concentration	80184	CEP290	ORPHA:110
HP:0430071	Abnormal circulating organic compound concentration	11020	IFT27	ORPHA:110
HP:0430071	Abnormal circulating organic compound concentration	582	BBS1	ORPHA:110
HP:0430071	Abnormal circulating organic compound concentration	49855	SCAPER	ORPHA:110
HP:0430071	Abnormal circulating organic compound concentration	4867	NPHP1	ORPHA:110
HP:0430071	Abnormal circulating organic compound concentration	51057	WDPCP	ORPHA:110
HP:0430071	Abnormal circulating organic compound concentration	132320	SCLT1	ORPHA:110
HP:0430071	Abnormal circulating organic compound concentration	27241	BBS9	ORPHA:110
HP:0430071	Abnormal circulating organic compound concentration	22954	TRIM32	ORPHA:110
HP:0430071	Abnormal circulating organic compound concentration	54903	MKS1	ORPHA:110
HP:0430071	Abnormal circulating organic compound concentration	79738	BBS10	ORPHA:110
HP:0430071	Abnormal circulating organic compound concentration	123016	TTC8	ORPHA:110
HP:0430071	Abnormal circulating organic compound concentration	26160	IFT172	ORPHA:110
HP:0430071	Abnormal circulating organic compound concentration	583	BBS2	ORPHA:110
HP:0430071	Abnormal circulating organic compound concentration	585	BBS4	ORPHA:110
HP:0430071	Abnormal circulating organic compound concentration	8195	MKKS	ORPHA:110
HP:0430071	Abnormal circulating organic compound concentration	54585	LZTFL1	ORPHA:110
HP:0430071	Abnormal circulating organic compound concentration	55212	BBS7	ORPHA:110
HP:0430071	Abnormal circulating organic compound concentration	166379	BBS12	ORPHA:110
HP:0430071	Abnormal circulating organic compound concentration	10806	SDCCAG8	ORPHA:110
HP:0430071	Abnormal circulating organic compound concentration	157657	CFAP418	ORPHA:110
HP:0430071	Abnormal circulating organic compound concentration	84100	ARL6	ORPHA:110
HP:0430071	Abnormal circulating organic compound concentration	129880	BBS5	ORPHA:110
HP:0430071	Abnormal circulating organic compound concentration	80173	IFT74	ORPHA:110
HP:0430071	Abnormal circulating organic compound concentration	8879	SGPL1	OMIM:617575
HP:0430071	Abnormal circulating organic compound concentration	51604	PIGT	ORPHA:369837
HP:0430071	Abnormal circulating organic compound concentration	11128	POLR3A	OMIM:264090
HP:0430071	Abnormal circulating organic compound concentration	11128	POLR3A	ORPHA:3455
HP:0430071	Abnormal circulating organic compound concentration	4040	LRP6	OMIM:610947
HP:0430071	Abnormal circulating organic compound concentration	3931	LCAT	OMIM:245900
HP:0430071	Abnormal circulating organic compound concentration	3931	LCAT	OMIM:136120
HP:0430071	Abnormal circulating organic compound concentration	84868	HAVCR2	OMIM:618398
HP:0430071	Abnormal circulating organic compound concentration	10651	MTX2	OMIM:619127
HP:0430071	Abnormal circulating organic compound concentration	5261	PHKG2	OMIM:613027
HP:0430071	Abnormal circulating organic compound concentration	5261	PHKG2	ORPHA:264580
HP:0430071	Abnormal circulating organic compound concentration	182	JAG1	OMIM:118450
HP:0430071	Abnormal circulating organic compound concentration	7274	TTPA	OMIM:277460
HP:0430071	Abnormal circulating organic compound concentration	5294	PIK3CG	OMIM:619802
HP:0430071	Abnormal circulating organic compound concentration	51128	SAR1B	ORPHA:71
HP:0430071	Abnormal circulating organic compound concentration	2819	GPD1	OMIM:614480
HP:0430071	Abnormal circulating organic compound concentration	5692	PSMB4	OMIM:617591
HP:0430071	Abnormal circulating organic compound concentration	2193	FARSA	OMIM:619013
HP:0430071	Abnormal circulating organic compound concentration	8565	YARS1	OMIM:619418
HP:0430071	Abnormal circulating organic compound concentration	51099	ABHD5	ORPHA:98907
HP:0430071	Abnormal circulating organic compound concentration	116519	APOA5	OMIM:145750
HP:0430071	Abnormal circulating organic compound concentration	284119	CAVIN1	ORPHA:528
HP:0430071	Abnormal circulating organic compound concentration	284119	CAVIN1	OMIM:613327
HP:0430071	Abnormal circulating organic compound concentration	2353	FOS	ORPHA:528
HP:0430071	Abnormal circulating organic compound concentration	2273	FHL1	ORPHA:98863
HP:0430071	Abnormal circulating organic compound concentration	2010	EMD	ORPHA:98863
HP:0430071	Abnormal circulating organic compound concentration	64788	LMF1	OMIM:246650
HP:0430071	Abnormal circulating organic compound concentration	5256	PHKA2	ORPHA:264580
HP:0430071	Abnormal circulating organic compound concentration	5256	PHKA2	OMIM:306000
HP:0430071	Abnormal circulating organic compound concentration	344	APOC2	OMIM:207750
HP:0430071	Abnormal circulating organic compound concentration	55315	SLC29A3	ORPHA:168569
HP:0430071	Abnormal circulating organic compound concentration	5696	PSMB8	OMIM:256040
HP:0430071	Abnormal circulating organic compound concentration	79188	TMEM43	ORPHA:98853
HP:0430071	Abnormal circulating organic compound concentration	23345	SYNE1	ORPHA:98853
HP:0430071	Abnormal circulating organic compound concentration	23224	SYNE2	ORPHA:98853
HP:0430071	Abnormal circulating organic compound concentration	1285	COL4A3	OMIM:104200
HP:0430071	Abnormal circulating organic compound concentration	8882	ZPR1	OMIM:619321
HP:0430071	Abnormal circulating organic compound concentration	4522	MTHFD1	OMIM:617780
HP:0430071	Abnormal circulating organic compound concentration	6948	TCN2	OMIM:275350
HP:0430071	Abnormal circulating organic compound concentration	84693	MCEE	OMIM:251120
HP:0430071	Abnormal circulating organic compound concentration	4953	ODC1	OMIM:619075
HP:0430071	Abnormal circulating organic compound concentration	57680	CHD8	OMIM:615032
HP:0430071	Abnormal circulating organic compound concentration	6006	RHCE	OMIM:617970
HP:0430071	Abnormal circulating organic compound concentration	6006	RHCE	ORPHA:71275
HP:0430071	Abnormal circulating organic compound concentration	2936	GSR	OMIM:618660
HP:0430071	Abnormal circulating organic compound concentration	6711	SPTBN1	OMIM:619475
HP:0430071	Abnormal circulating organic compound concentration	3783	KCNN4	OMIM:616689
HP:0430071	Abnormal circulating organic compound concentration	3145	HMBS	OMIM:620704
HP:0430071	Abnormal circulating organic compound concentration	222546	RFX6	OMIM:615710
HP:0430071	Abnormal circulating organic compound concentration	100151683	RNU4ATAC	OMIM:210710
HP:0430071	Abnormal circulating organic compound concentration	6710	SPTB	OMIM:616649
HP:0430071	Abnormal circulating organic compound concentration	6710	SPTB	ORPHA:822
HP:0430071	Abnormal circulating organic compound concentration	6710	SPTB	ORPHA:288
HP:0430071	Abnormal circulating organic compound concentration	57539	WDR35	OMIM:613610
HP:0430071	Abnormal circulating organic compound concentration	286	ANK1	OMIM:182900
HP:0430071	Abnormal circulating organic compound concentration	286	ANK1	ORPHA:822
HP:0430071	Abnormal circulating organic compound concentration	2038	EPB42	ORPHA:822
HP:0430071	Abnormal circulating organic compound concentration	6708	SPTA1	ORPHA:822
HP:0430071	Abnormal circulating organic compound concentration	6708	SPTA1	ORPHA:288
HP:0430071	Abnormal circulating organic compound concentration	7849	PAX8	OMIM:218700
HP:0430071	Abnormal circulating organic compound concentration	5443	POMC	OMIM:609734
HP:0430071	Abnormal circulating organic compound concentration	55610	VPS50	OMIM:619685
HP:0430071	Abnormal circulating organic compound concentration	374879	ZNF699	OMIM:619488
HP:0430071	Abnormal circulating organic compound concentration	5205	ATP8B1	ORPHA:69665
HP:0430071	Abnormal circulating organic compound concentration	8647	ABCB11	ORPHA:69665
HP:0430071	Abnormal circulating organic compound concentration	3098	HK1	OMIM:235700
HP:0430071	Abnormal circulating organic compound concentration	226	ALDOA	OMIM:611881
HP:0430071	Abnormal circulating organic compound concentration	5015	OTX2	OMIM:613986
HP:0430071	Abnormal circulating organic compound concentration	9338	TCEAL1	OMIM:301094
HP:0430071	Abnormal circulating organic compound concentration	2271	FH	OMIM:606812
HP:0430071	Abnormal circulating organic compound concentration	9968	MED12	OMIM:301068
HP:0430071	Abnormal circulating organic compound concentration	9493	KIF23	ORPHA:98870
HP:0430071	Abnormal circulating organic compound concentration	29127	RACGAP1	ORPHA:98870
HP:0430071	Abnormal circulating organic compound concentration	6005	RHAG	OMIM:185000
HP:0430071	Abnormal circulating organic compound concentration	6005	RHAG	ORPHA:71275
HP:0430071	Abnormal circulating organic compound concentration	55687	TRMU	OMIM:613070
HP:0430071	Abnormal circulating organic compound concentration	3930	LBR	OMIM:613471
HP:0430071	Abnormal circulating organic compound concentration	7019	TFAM	OMIM:617156
HP:0430071	Abnormal circulating organic compound concentration	8260	NAA10	OMIM:300855
HP:0430071	Abnormal circulating organic compound concentration	10661	KLF1	OMIM:613673
HP:0430071	Abnormal circulating organic compound concentration	1716	DGUOK	OMIM:251880
HP:0430071	Abnormal circulating organic compound concentration	28962	OSTM1	OMIM:259720
HP:0430071	Abnormal circulating organic compound concentration	2035	EPB41	ORPHA:288
HP:0430071	Abnormal circulating organic compound concentration	2995	GYPC	ORPHA:288
HP:0430071	Abnormal circulating organic compound concentration	51251	NT5C3A	OMIM:266120
HP:0430071	Abnormal circulating organic compound concentration	5825	ABCD3	OMIM:616278
HP:0430071	Abnormal circulating organic compound concentration	146059	CDAN1	OMIM:224120
HP:0430071	Abnormal circulating organic compound concentration	5230	PGK1	ORPHA:713
HP:0430071	Abnormal circulating organic compound concentration	28234	SLCO1B3	ORPHA:3111
HP:0430071	Abnormal circulating organic compound concentration	10599	SLCO1B1	ORPHA:3111
HP:0430071	Abnormal circulating organic compound concentration	26276	VPS33B	OMIM:620010
HP:0430071	Abnormal circulating organic compound concentration	6007	RHD	ORPHA:71275
HP:0430071	Abnormal circulating organic compound concentration	1244	ABCC2	ORPHA:234
HP:0430071	Abnormal circulating organic compound concentration	1244	ABCC2	OMIM:237500
HP:0430071	Abnormal circulating organic compound concentration	51218	GLRX5	OMIM:616860
HP:0430071	Abnormal circulating organic compound concentration	26503	SLC17A5	OMIM:269920
HP:0430071	Abnormal circulating organic compound concentration	570	BAAT	OMIM:619232
HP:0430071	Abnormal circulating organic compound concentration	3643	INSR	OMIM:246200
HP:0430071	Abnormal circulating organic compound concentration	11232	POLG2	OMIM:618528
HP:0430071	Abnormal circulating organic compound concentration	6091	ROBO1	OMIM:620305
HP:0430071	Abnormal circulating organic compound concentration	6513	SLC2A1	ORPHA:168577
HP:0430071	Abnormal circulating organic compound concentration	6513	SLC2A1	OMIM:608885
HP:0430071	Abnormal circulating organic compound concentration	200931	SLC51A	OMIM:619484
HP:0430071	Abnormal circulating organic compound concentration	63894	VIPAS39	OMIM:613404
HP:0430071	Abnormal circulating organic compound concentration	4067	LYN	OMIM:620376
HP:0430071	Abnormal circulating organic compound concentration	4552	MTRR	OMIM:236270
HP:0430071	Abnormal circulating organic compound concentration	197322	ACSF3	ORPHA:289504
HP:0430071	Abnormal circulating organic compound concentration	8803	SUCLA2	OMIM:612073
HP:0430071	Abnormal circulating organic compound concentration	55788	LMBRD1	OMIM:277380
HP:0430071	Abnormal circulating organic compound concentration	25974	MMACHC	ORPHA:79282
HP:0430071	Abnormal circulating organic compound concentration	25974	MMACHC	OMIM:277400
HP:0430071	Abnormal circulating organic compound concentration	3054	HCFC1	OMIM:309541
HP:0430071	Abnormal circulating organic compound concentration	4329	ALDH6A1	OMIM:614105
HP:0430071	Abnormal circulating organic compound concentration	51293	CD320	OMIM:613646
HP:0430071	Abnormal circulating organic compound concentration	5826	ABCD4	OMIM:614857
HP:0430071	Abnormal circulating organic compound concentration	27249	MMADHC	OMIM:277410
HP:0430071	Abnormal circulating organic compound concentration	326625	MMAB	OMIM:251110
HP:0430071	Abnormal circulating organic compound concentration	4594	MMUT	OMIM:251000
HP:0430071	Abnormal circulating organic compound concentration	5052	PRDX1	OMIM:277400
HP:0430071	Abnormal circulating organic compound concentration	166785	MMAA	OMIM:251100
HP:0430071	Abnormal circulating organic compound concentration	7840	ALMS1	ORPHA:64
HP:0430071	Abnormal circulating organic compound concentration	10269	ZMPSTE24	OMIM:608612
HP:0430071	Abnormal circulating organic compound concentration	10269	ZMPSTE24	ORPHA:90154
HP:0430071	Abnormal circulating organic compound concentration	5836	PYGL	OMIM:232700
HP:0430071	Abnormal circulating organic compound concentration	5836	PYGL	ORPHA:369
HP:0430071	Abnormal circulating organic compound concentration	4023	LPL	OMIM:238600
HP:0430071	Abnormal circulating organic compound concentration	4023	LPL	OMIM:144250
HP:0430071	Abnormal circulating organic compound concentration	2542	SLC37A4	OMIM:232220
HP:0430071	Abnormal circulating organic compound concentration	2542	SLC37A4	ORPHA:79259
HP:0430071	Abnormal circulating organic compound concentration	2542	SLC37A4	OMIM:232240
HP:0430071	Abnormal circulating organic compound concentration	81	ACTN4	OMIM:603278
HP:0430071	Abnormal circulating organic compound concentration	213	ALB	ORPHA:86816
HP:0430071	Abnormal circulating organic compound concentration	57104	PNPLA2	ORPHA:565612
HP:0430071	Abnormal circulating organic compound concentration	3998	LMAN1	ORPHA:35909
HP:0430071	Abnormal circulating organic compound concentration	90411	MCFD2	ORPHA:35909
HP:0430071	Abnormal circulating organic compound concentration	25970	SH2B1	ORPHA:329249
HP:0430071	Abnormal circulating organic compound concentration	50485	SMARCAL1	ORPHA:1830
HP:0430071	Abnormal circulating organic compound concentration	79798	ARMC5	ORPHA:189427
HP:0430071	Abnormal circulating organic compound concentration	23028	KDM1A	ORPHA:189427
HP:0430071	Abnormal circulating organic compound concentration	2778	GNAS	ORPHA:189427
HP:0430071	Abnormal circulating organic compound concentration	2998	GYS2	ORPHA:2089
HP:0430071	Abnormal circulating organic compound concentration	4000	LMNA	OMIM:248370
HP:0430071	Abnormal circulating organic compound concentration	4000	LMNA	ORPHA:90153
HP:0430071	Abnormal circulating organic compound concentration	10342	TFG	OMIM:604484
HP:0430071	Abnormal circulating organic compound concentration	4868	NPHS1	OMIM:256300
HP:0430071	Abnormal circulating organic compound concentration	3949	LDLR	ORPHA:391665
HP:0430071	Abnormal circulating organic compound concentration	255738	PCSK9	ORPHA:391665
HP:0430071	Abnormal circulating organic compound concentration	26119	LDLRAP1	ORPHA:391665
HP:0430071	Abnormal circulating organic compound concentration	338	APOB	ORPHA:391665
HP:0430071	Abnormal circulating organic compound concentration	64240	ABCG5	ORPHA:391665
HP:0430071	Abnormal circulating organic compound concentration	64241	ABCG8	ORPHA:391665
HP:0430071	Abnormal circulating organic compound concentration	7827	NPHS2	OMIM:600995
HP:0430071	Abnormal circulating organic compound concentration	178	AGL	OMIM:232400
HP:0430071	Abnormal circulating organic compound concentration	2538	G6PC1	OMIM:232200
HP:0430071	Abnormal circulating organic compound concentration	7555	CNBP	ORPHA:606
HP:0430071	Abnormal circulating organic compound concentration	1376	CPT2	ORPHA:228308
HP:0430071	Abnormal circulating organic compound concentration	23040	MYT1L	ORPHA:647799
HP:0430071	Abnormal circulating organic compound concentration	80067	DCAF17	OMIM:241080
HP:0430071	Abnormal circulating organic compound concentration	8694	DGAT1	OMIM:615863
HP:0430071	Abnormal circulating organic compound concentration	109	ADCY3	OMIM:617885
HP:0430071	Abnormal circulating organic compound concentration	4644	MYO5A	ORPHA:79476
HP:0430071	Abnormal circulating organic compound concentration	10878	CFHR3	OMIM:235400
HP:0430071	Abnormal circulating organic compound concentration	3075	CFH	OMIM:235400
HP:0430071	Abnormal circulating organic compound concentration	3078	CFHR1	OMIM:235400
HP:0430071	Abnormal circulating organic compound concentration	5873	RAB27A	ORPHA:79477
HP:0430071	Abnormal circulating organic compound concentration	1588	CYP19A1	ORPHA:91
HP:0430071	Abnormal circulating organic compound concentration	1718	DHCR24	OMIM:602398
HP:0430071	Abnormal circulating organic compound concentration	3064	HTT	ORPHA:399
HP:0430071	Abnormal circulating organic compound concentration	6515	SLC2A3	ORPHA:399
HP:0430071	Abnormal circulating organic compound concentration	1583	CYP11A1	ORPHA:289548
HP:0430071	Abnormal circulating organic compound concentration	1583	CYP11A1	ORPHA:168558
HP:0430071	Abnormal circulating organic compound concentration	9420	CYP7B1	OMIM:270800
HP:0430071	Abnormal circulating organic compound concentration	50814	NSDHL	ORPHA:251383
HP:0430071	Abnormal circulating organic compound concentration	55343	SLC35C1	OMIM:266265
HP:0430071	Abnormal circulating organic compound concentration	9361	LONP1	OMIM:600373
HP:0430071	Abnormal circulating organic compound concentration	367	AR	ORPHA:481
HP:0430071	Abnormal circulating organic compound concentration	3594	IL12RB1	ORPHA:186
HP:0430071	Abnormal circulating organic compound concentration	23534	TNPO3	ORPHA:186
HP:0430071	Abnormal circulating organic compound concentration	3592	IL12A	ORPHA:186
HP:0430071	Abnormal circulating organic compound concentration	6689	SPIB	ORPHA:186
HP:0430071	Abnormal circulating organic compound concentration	5450	POU2AF1	ORPHA:186
HP:0430071	Abnormal circulating organic compound concentration	9966	TNFSF15	ORPHA:186
HP:0430071	Abnormal circulating organic compound concentration	79258	MMEL1	ORPHA:186
HP:0430071	Abnormal circulating organic compound concentration	3663	IRF5	ORPHA:186
HP:0430071	Abnormal circulating organic compound concentration	6609	SMPD1	ORPHA:77293
HP:0430071	Abnormal circulating organic compound concentration	3991	LIPE	OMIM:615980
HP:0430071	Abnormal circulating organic compound concentration	7518	XRCC4	OMIM:616541
HP:0430071	Abnormal circulating organic compound concentration	84823	LMNB2	OMIM:608709
HP:0430071	Abnormal circulating organic compound concentration	2200	FBN1	ORPHA:2833
HP:0430071	Abnormal circulating organic compound concentration	93627	TBCK	ORPHA:488632
HP:0430071	Abnormal circulating organic compound concentration	6804	STX1A	ORPHA:904
HP:0430071	Abnormal circulating organic compound concentration	7461	CLIP2	ORPHA:904
HP:0430071	Abnormal circulating organic compound concentration	84277	DNAJC30	ORPHA:904
HP:0430071	Abnormal circulating organic compound concentration	8468	FKBP6	ORPHA:904
HP:0430071	Abnormal circulating organic compound concentration	5982	RFC2	ORPHA:904
HP:0430071	Abnormal circulating organic compound concentration	2969	GTF2I	ORPHA:904
HP:0430071	Abnormal circulating organic compound concentration	3984	LIMK1	ORPHA:904
HP:0430071	Abnormal circulating organic compound concentration	9569	GTF2IRD1	ORPHA:904
HP:0430071	Abnormal circulating organic compound concentration	155382	VPS37D	ORPHA:904
HP:0430071	Abnormal circulating organic compound concentration	155368	METTL27	ORPHA:904
HP:0430071	Abnormal circulating organic compound concentration	114049	BUD23	ORPHA:904
HP:0430071	Abnormal circulating organic compound concentration	7458	EIF4H	ORPHA:904
HP:0430071	Abnormal circulating organic compound concentration	84163	GTF2IRD2	ORPHA:904
HP:0430071	Abnormal circulating organic compound concentration	26608	TBL2	ORPHA:904
HP:0430071	Abnormal circulating organic compound concentration	653361	NCF1	ORPHA:904
HP:0430071	Abnormal circulating organic compound concentration	135886	TMEM270	ORPHA:904
HP:0430071	Abnormal circulating organic compound concentration	9031	BAZ1B	ORPHA:904
HP:0430071	Abnormal circulating organic compound concentration	2006	ELN	ORPHA:904
HP:0430071	Abnormal circulating organic compound concentration	10165	SLC25A13	ORPHA:247598
HP:0430071	Abnormal circulating organic compound concentration	2717	GLA	ORPHA:324
HP:0430071	Abnormal circulating organic compound concentration	55806	HR	ORPHA:701
HP:0430071	Abnormal circulating organic compound concentration	335	APOA1	ORPHA:425
HP:0430071	Abnormal circulating organic compound concentration	19	ABCA1	ORPHA:425
HP:0430071	Abnormal circulating organic compound concentration	388015	RTL1	ORPHA:254531
HP:0430071	Abnormal circulating organic compound concentration	388015	RTL1	ORPHA:96184
HP:0430071	Abnormal circulating organic compound concentration	8788	DLK1	ORPHA:254531
HP:0430071	Abnormal circulating organic compound concentration	8788	DLK1	ORPHA:96184
HP:0430071	Abnormal circulating organic compound concentration	55384	MEG3	ORPHA:254531
HP:0430071	Abnormal circulating organic compound concentration	55384	MEG3	ORPHA:96184
HP:0430071	Abnormal circulating organic compound concentration	23533	PIK3R5	ORPHA:64753
HP:0430071	Abnormal circulating organic compound concentration	23064	SETX	ORPHA:64753
HP:0430071	Abnormal circulating organic compound concentration	57122	NUP107	OMIM:618348
HP:0430071	Abnormal circulating organic compound concentration	57122	NUP107	OMIM:616730
HP:0430071	Abnormal circulating organic compound concentration	55775	TDP1	ORPHA:94124
HP:0430071	Abnormal circulating organic compound concentration	55775	TDP1	OMIM:607250
HP:0430071	Abnormal circulating organic compound concentration	5244	ABCB4	ORPHA:69663
HP:0430071	Abnormal circulating organic compound concentration	859	CAV3	ORPHA:488650
HP:0430071	Abnormal circulating organic compound concentration	4205	MEF2A	OMIM:608320
HP:0430071	Abnormal circulating organic compound concentration	7252	TSHB	ORPHA:90674
HP:0430071	Abnormal circulating organic compound concentration	25839	COG4	ORPHA:263501
HP:0430071	Abnormal circulating organic compound concentration	79989	IFT56	OMIM:619534
HP:0430071	Abnormal circulating organic compound concentration	11284	PNKP	OMIM:616267
HP:0430071	Abnormal circulating organic compound concentration	537	ATP6AP1	OMIM:300972
HP:0430071	Abnormal circulating organic compound concentration	1733	DIO1	OMIM:619855
HP:0430071	Abnormal circulating organic compound concentration	147007	TMEM199	OMIM:616829
HP:0430071	Abnormal circulating organic compound concentration	84317	CCDC115	OMIM:616828
HP:0430071	Abnormal circulating organic compound concentration	6907	TBL1X	OMIM:301033
HP:0430071	Abnormal circulating organic compound concentration	113220	KIF12	OMIM:619662
HP:0430071	Abnormal circulating organic compound concentration	54840	APTX	OMIM:208920
HP:0430071	Abnormal circulating organic compound concentration	4645	MYO5B	OMIM:619868
HP:0430071	Abnormal circulating organic compound concentration	6811	STX5	OMIM:620454
HP:0430071	Abnormal circulating organic compound concentration	55186	SLC25A36	OMIM:620211
HP:0430071	Abnormal circulating organic compound concentration	2690	GHR	ORPHA:633
HP:0430071	Abnormal circulating organic compound concentration	8518	ELP1	OMIM:223900
HP:0430071	Abnormal circulating organic compound concentration	51081	MRPS7	OMIM:617872
HP:0430071	Abnormal circulating organic compound concentration	4179	CD46	OMIM:612922
HP:0430071	Abnormal circulating organic compound concentration	629	CFB	OMIM:612924
HP:0430071	Abnormal circulating organic compound concentration	56606	SLC2A9	ORPHA:94088
HP:0430071	Abnormal circulating organic compound concentration	116085	SLC22A12	ORPHA:94088
HP:0430071	Abnormal circulating organic compound concentration	3426	CFI	OMIM:612923
HP:0430071	Abnormal circulating organic compound concentration	7056	THBD	OMIM:612926
HP:0430071	Abnormal circulating organic compound concentration	718	C3	OMIM:612925
HP:0430071	Abnormal circulating organic compound concentration	2072	ERCC4	ORPHA:90321
HP:0430071	Abnormal circulating organic compound concentration	2074	ERCC6	ORPHA:90321
HP:0430071	Abnormal circulating organic compound concentration	5277	PIGA	ORPHA:447
HP:0430071	Abnormal circulating organic compound concentration	11093	ADAMTS13	OMIM:274150
HP:0430071	Abnormal circulating organic compound concentration	22909	FAN1	OMIM:614817
HP:0430071	Abnormal circulating organic compound concentration	336	APOA2	OMIM:143890
HP:0430071	Abnormal circulating organic compound concentration	2053	EPHX2	OMIM:143890
HP:0430071	Abnormal circulating organic compound concentration	10842	PPP1R17	OMIM:143890
HP:0430071	Abnormal circulating organic compound concentration	20	ABCA2	OMIM:618808
HP:0430071	Abnormal circulating organic compound concentration	1717	DHCR7	OMIM:270400
HP:0430071	Abnormal circulating organic compound concentration	4547	MTTP	ORPHA:14
HP:0430071	Abnormal circulating organic compound concentration	80270	HSD3B7	OMIM:607765
HP:0430071	Abnormal circulating organic compound concentration	89910	UBE3B	OMIM:244450
HP:0430071	Abnormal circulating organic compound concentration	5193	PEX12	OMIM:266510
HP:0430071	Abnormal circulating organic compound concentration	5406	PNLIP	OMIM:614338
HP:0430071	Abnormal circulating organic compound concentration	55210	ATAD3A	OMIM:618810
HP:0430071	Abnormal circulating organic compound concentration	201163	FLCN	OMIM:610883
HP:0430071	Abnormal circulating organic compound concentration	79796	ALG9	OMIM:608776
HP:0430071	Abnormal circulating organic compound concentration	5373	PMM2	OMIM:212065
HP:0430071	Abnormal circulating organic compound concentration	5660	PSAP	OMIM:610539
HP:0430071	Abnormal circulating organic compound concentration	79087	ALG12	ORPHA:79324
HP:0430071	Abnormal circulating organic compound concentration	51241	COX16	OMIM:619355
HP:0430071	Abnormal circulating organic compound concentration	2744	GLS	OMIM:618412
HP:0430071	Abnormal circulating organic compound concentration	6898	TAT	OMIM:276600
HP:0430071	Abnormal circulating organic compound concentration	2184	FAH	OMIM:276700
HP:0430071	Abnormal circulating organic compound concentration	617	BCS1L	OMIM:124000
HP:0430071	Abnormal circulating organic compound concentration	2629	GBA1	ORPHA:77259
HP:0430071	Abnormal circulating organic compound concentration	950	SCARB2	ORPHA:77259
HP:0430071	Abnormal circulating organic compound concentration	4556	MT-TE	ORPHA:254864
HP:0430071	Abnormal circulating organic compound concentration	4695	NDUFA2	OMIM:618235
HP:0430071	Abnormal circulating organic compound concentration	27034	ACAD8	OMIM:611283
HP:0430071	Abnormal circulating organic compound concentration	27034	ACAD8	ORPHA:79159
HP:0430071	Abnormal circulating organic compound concentration	875	CBS	OMIM:236200
HP:0430071	Abnormal circulating organic compound concentration	4143	MAT1A	OMIM:250850
HP:0430071	Abnormal circulating organic compound concentration	27232	GNMT	OMIM:606664
HP:0430071	Abnormal circulating organic compound concentration	3043	HBB	ORPHA:232
HP:0430071	Abnormal circulating organic compound concentration	5311	PKD2	OMIM:613095
HP:0430071	Abnormal circulating organic compound concentration	5311	PKD2	ORPHA:730
HP:0430071	Abnormal circulating organic compound concentration	595	CCND1	ORPHA:29073
HP:0430071	Abnormal circulating organic compound concentration	57545	CC2D2A	OMIM:619111
HP:0430071	Abnormal circulating organic compound concentration	2321	FLT1	ORPHA:275555
HP:0430071	Abnormal circulating organic compound concentration	219736	STOX1	ORPHA:275555
HP:0430071	Abnormal circulating organic compound concentration	10699	CORIN	ORPHA:275555
HP:0430071	Abnormal circulating organic compound concentration	10229	COQ7	OMIM:616733
HP:0430071	Abnormal circulating organic compound concentration	1962	EHHADH	OMIM:615605
HP:0430071	Abnormal circulating organic compound concentration	1497	CTNS	OMIM:219750
HP:0430071	Abnormal circulating organic compound concentration	1497	CTNS	ORPHA:411634
HP:0430071	Abnormal circulating organic compound concentration	51726	DNAJB11	ORPHA:730
HP:0430071	Abnormal circulating organic compound concentration	23193	GANAB	ORPHA:730
HP:0430071	Abnormal circulating organic compound concentration	5310	PKD1	ORPHA:730
HP:0430071	Abnormal circulating organic compound concentration	29880	ALG5	ORPHA:730
HP:0430071	Abnormal circulating organic compound concentration	9742	IFT140	ORPHA:730
HP:0430071	Abnormal circulating organic compound concentration	80114	BICC1	ORPHA:730
HP:0430071	Abnormal circulating organic compound concentration	6521	SLC4A1	OMIM:179800
HP:0430071	Abnormal circulating organic compound concentration	54916	TMEM260	OMIM:617478
HP:0430071	Abnormal circulating organic compound concentration	353	APRT	OMIM:614723
HP:0430071	Abnormal circulating organic compound concentration	6522	SLC4A2	OMIM:620366
HP:0430071	Abnormal circulating organic compound concentration	5076	PAX2	OMIM:120330
HP:0430071	Abnormal circulating organic compound concentration	29071	C1GALT1C1	OMIM:301110
HP:0430071	Abnormal circulating organic compound concentration	11277	TREX1	ORPHA:247691
HP:0430071	Abnormal circulating organic compound concentration	254428	SLC41A1	OMIM:619468
HP:0430071	Abnormal circulating organic compound concentration	57728	WDR19	OMIM:614376
HP:0430071	Abnormal circulating organic compound concentration	90523	MLIP	OMIM:620138
HP:0430071	Abnormal circulating organic compound concentration	79053	ALG8	OMIM:608104
HP:0430071	Abnormal circulating organic compound concentration	27130	INVS	OMIM:602088
HP:0430071	Abnormal circulating organic compound concentration	3479	IGF1	ORPHA:73272
HP:0430071	Abnormal circulating organic compound concentration	7355	SLC35A2	OMIM:300896
HP:0430071	Abnormal circulating organic compound concentration	2876	GPX1	OMIM:614164
HP:0430071	Abnormal circulating organic compound concentration	405753	DUOXA2	ORPHA:95716
HP:0430071	Abnormal circulating organic compound concentration	6528	SLC5A5	ORPHA:95716
HP:0430071	Abnormal circulating organic compound concentration	7038	TG	ORPHA:95716
HP:0430071	Abnormal circulating organic compound concentration	7173	TPO	ORPHA:95716
HP:0430071	Abnormal circulating organic compound concentration	389434	IYD	ORPHA:95716
HP:0430071	Abnormal circulating organic compound concentration	50506	DUOX2	ORPHA:95716
HP:0430071	Abnormal circulating organic compound concentration	10908	PNPLA6	ORPHA:3363
HP:0430071	Abnormal circulating organic compound concentration	5048	PAFAH1B1	ORPHA:95232
HP:0430071	Abnormal circulating organic compound concentration	9780	PIEZO1	ORPHA:3202
HP:0430071	Abnormal circulating organic compound concentration	7319	UBE2A	ORPHA:163956
HP:0430071	Abnormal circulating organic compound concentration	54658	UGT1A1	ORPHA:79234
HP:0430071	Abnormal circulating organic compound concentration	54658	UGT1A1	ORPHA:79235
HP:0430071	Abnormal circulating organic compound concentration	7253	TSHR	ORPHA:90673
HP:0430071	Abnormal circulating organic compound concentration	1491	CTH	ORPHA:212
HP:0430071	Abnormal circulating organic compound concentration	4524	MTHFR	ORPHA:395
HP:0430071	Abnormal circulating organic compound concentration	5091	PC	OMIM:266150
HP:0430071	Abnormal circulating organic compound concentration	11222	MRPL3	OMIM:614582
HP:0430071	Abnormal circulating organic compound concentration	57176	VARS2	OMIM:615917
HP:0430071	Abnormal circulating organic compound concentration	1841	DTYMK	OMIM:619847
HP:0430071	Abnormal circulating organic compound concentration	4285	MIPEP	OMIM:617228
HP:0430071	Abnormal circulating organic compound concentration	54931	TRMT10C	OMIM:616974
HP:0430071	Abnormal circulating organic compound concentration	4976	OPA1	OMIM:616896
HP:0430071	Abnormal circulating organic compound concentration	3980	LIG3	ORPHA:298
HP:0430071	Abnormal circulating organic compound concentration	50484	RRM2B	ORPHA:298
HP:0430071	Abnormal circulating organic compound concentration	90161	HS6ST2	OMIM:301025
HP:0430071	Abnormal circulating organic compound concentration	51116	MRPS2	OMIM:617950
HP:0430071	Abnormal circulating organic compound concentration	125988	MICOS13	OMIM:618329
HP:0430071	Abnormal circulating organic compound concentration	54148	MRPL39	OMIM:620646
HP:0430071	Abnormal circulating organic compound concentration	51079	NDUFA13	OMIM:618249
HP:0430071	Abnormal circulating organic compound concentration	291	SLC25A4	OMIM:615418
HP:0430071	Abnormal circulating organic compound concentration	3735	KARS1	OMIM:619147
HP:0430071	Abnormal circulating organic compound concentration	63931	MRPS14	OMIM:618378
HP:0430071	Abnormal circulating organic compound concentration	57017	COQ9	OMIM:614654
HP:0430071	Abnormal circulating organic compound concentration	3000	GUCY2D	OMIM:204000
HP:0430071	Abnormal circulating organic compound concentration	197131	UBR1	OMIM:243800
HP:0430071	Abnormal circulating organic compound concentration	5830	PEX5	OMIM:202370
HP:0430071	Abnormal circulating organic compound concentration	5830	PEX5	OMIM:214110
HP:0430071	Abnormal circulating organic compound concentration	5824	PEX19	OMIM:614886
HP:0430071	Abnormal circulating organic compound concentration	5189	PEX1	OMIM:214100
HP:0430071	Abnormal circulating organic compound concentration	10682	EBP	ORPHA:401973
HP:0430071	Abnormal circulating organic compound concentration	10682	EBP	OMIM:302960
HP:0430071	Abnormal circulating organic compound concentration	79783	SUGCT	ORPHA:35706
HP:0430071	Abnormal circulating organic compound concentration	131118	DNAJC19	ORPHA:66634
HP:0430071	Abnormal circulating organic compound concentration	2110	ETFDH	OMIM:231680
HP:0430071	Abnormal circulating organic compound concentration	2108	ETFA	OMIM:231680
HP:0430071	Abnormal circulating organic compound concentration	2109	ETFB	OMIM:231680
HP:0430071	Abnormal circulating organic compound concentration	2639	GCDH	OMIM:231670
HP:0430071	Abnormal circulating organic compound concentration	4860	PNP	ORPHA:760
HP:0430071	Abnormal circulating organic compound concentration	4860	PNP	OMIM:613179
HP:0430071	Abnormal circulating organic compound concentration	7498	XDH	OMIM:278300
HP:0430071	Abnormal circulating organic compound concentration	4337	MOCS1	OMIM:252150
HP:0430071	Abnormal circulating organic compound concentration	4338	MOCS2	OMIM:252160
HP:0430071	Abnormal circulating organic compound concentration	540	ATP7B	OMIM:277900
HP:0430071	Abnormal circulating organic compound concentration	55034	MOCOS	OMIM:603592
HP:0430071	Abnormal circulating organic compound concentration	2628	GATM	ORPHA:3337
HP:0430071	Abnormal circulating organic compound concentration	137682	NDUFAF6	ORPHA:3337
HP:0430071	Abnormal circulating organic compound concentration	6569	SLC34A1	ORPHA:3337
HP:0430071	Abnormal circulating organic compound concentration	9131	AIFM1	ORPHA:238329
HP:0430071	Abnormal circulating organic compound concentration	4358	MPV17	OMIM:256810
HP:0430071	Abnormal circulating organic compound concentration	54539	NDUFB11	ORPHA:2609
HP:0430071	Abnormal circulating organic compound concentration	25915	NDUFAF3	ORPHA:2609
HP:0430071	Abnormal circulating organic compound concentration	51103	NDUFAF1	ORPHA:2609
HP:0430071	Abnormal circulating organic compound concentration	91942	NDUFAF2	ORPHA:2609
HP:0430071	Abnormal circulating organic compound concentration	51300	TIMMDC1	ORPHA:2609
HP:0430071	Abnormal circulating organic compound concentration	4716	NDUFB10	ORPHA:2609
HP:0430071	Abnormal circulating organic compound concentration	4723	NDUFV1	ORPHA:2609
HP:0430071	Abnormal circulating organic compound concentration	55572	FOXRED1	ORPHA:2609
HP:0430071	Abnormal circulating organic compound concentration	284184	NDUFAF8	ORPHA:2609
HP:0430071	Abnormal circulating organic compound concentration	55863	TMEM126B	ORPHA:2609
HP:0430071	Abnormal circulating organic compound concentration	4535	MT-ND1	ORPHA:2609
HP:0430071	Abnormal circulating organic compound concentration	4537	MT-ND3	ORPHA:2609
HP:0430071	Abnormal circulating organic compound concentration	4729	NDUFV2	ORPHA:2609
HP:0430071	Abnormal circulating organic compound concentration	4694	NDUFA1	ORPHA:2609
HP:0430071	Abnormal circulating organic compound concentration	4720	NDUFS2	ORPHA:2609
HP:0430071	Abnormal circulating organic compound concentration	4724	NDUFS4	ORPHA:2609
HP:0430071	Abnormal circulating organic compound concentration	4726	NDUFS6	ORPHA:2609
HP:0430071	Abnormal circulating organic compound concentration	4728	NDUFS8	ORPHA:2609
HP:0430071	Abnormal circulating organic compound concentration	4722	NDUFS3	ORPHA:2609
HP:0430071	Abnormal circulating organic compound concentration	79133	NDUFAF5	ORPHA:2609
HP:0430071	Abnormal circulating organic compound concentration	126328	NDUFA11	ORPHA:2609
HP:0430071	Abnormal circulating organic compound concentration	4709	NDUFB3	ORPHA:2609
HP:0430071	Abnormal circulating organic compound concentration	80224	NUBPL	ORPHA:2609
HP:0430071	Abnormal circulating organic compound concentration	29078	NDUFAF4	ORPHA:2609
HP:0430071	Abnormal circulating organic compound concentration	374291	NDUFS7	ORPHA:2609
HP:0430071	Abnormal circulating organic compound concentration	4700	NDUFA6	ORPHA:2609
HP:0430071	Abnormal circulating organic compound concentration	4536	MT-ND2	ORPHA:2609
HP:0430071	Abnormal circulating organic compound concentration	4719	NDUFS1	ORPHA:2609
HP:0430071	Abnormal circulating organic compound concentration	4715	NDUFB9	ORPHA:2609
HP:0430071	Abnormal circulating organic compound concentration	5160	PDHA1	ORPHA:79243
HP:0430071	Abnormal circulating organic compound concentration	4566	MT-TK	ORPHA:1349
HP:0430071	Abnormal circulating organic compound concentration	4204	MECP2	ORPHA:778
HP:0430071	Abnormal circulating organic compound concentration	5428	POLG	ORPHA:94125
HP:0430071	Abnormal circulating organic compound concentration	29929	ALG6	ORPHA:79320
HP:0430071	Abnormal circulating organic compound concentration	2683	B4GALT1	OMIM:620364
HP:0430071	Abnormal circulating organic compound concentration	2683	B4GALT1	ORPHA:79332
HP:0430071	Abnormal circulating organic compound concentration	6557	SLC12A1	OMIM:601678
HP:0430071	Abnormal circulating organic compound concentration	3758	KCNJ1	OMIM:241200
HP:0430071	Abnormal circulating organic compound concentration	4538	MT-ND4	ORPHA:255210
HP:0430071	Abnormal circulating organic compound concentration	4567	MT-TL1	ORPHA:255210
HP:0430071	Abnormal circulating organic compound concentration	4578	MT-TW	ORPHA:255210
HP:0430071	Abnormal circulating organic compound concentration	4577	MT-TV	ORPHA:255210
HP:0430071	Abnormal circulating organic compound concentration	4540	MT-ND5	ORPHA:255210
HP:0430071	Abnormal circulating organic compound concentration	4541	MT-ND6	ORPHA:255210
HP:0430071	Abnormal circulating organic compound concentration	5105	PCK1	OMIM:261680
HP:0430071	Abnormal circulating organic compound concentration	51601	LIPT1	OMIM:616299
HP:0430071	Abnormal circulating organic compound concentration	11231	SEC63	ORPHA:2924
HP:0430071	Abnormal circulating organic compound concentration	5589	PRKCSH	ORPHA:2924
HP:0430071	Abnormal circulating organic compound concentration	5589	PRKCSH	OMIM:174050
HP:0430071	Abnormal circulating organic compound concentration	4041	LRP5	ORPHA:2924
HP:0430071	Abnormal circulating organic compound concentration	51473	DCDC2	ORPHA:84081
HP:0430071	Abnormal circulating organic compound concentration	91147	TMEM67	ORPHA:84081
HP:0430071	Abnormal circulating organic compound concentration	4548	MTR	OMIM:250940
HP:0430071	Abnormal circulating organic compound concentration	6531	SLC6A3	ORPHA:238455
HP:0430071	Abnormal circulating organic compound concentration	3172	HNF4A	ORPHA:263455
HP:0430071	Abnormal circulating organic compound concentration	215	ABCD1	ORPHA:139399
HP:0430071	Abnormal circulating organic compound concentration	215	ABCD1	ORPHA:139396
HP:0430071	Abnormal circulating organic compound concentration	5053	PAH	OMIM:261600
HP:0430071	Abnormal circulating organic compound concentration	5053	PAH	ORPHA:79254
HP:0430071	Abnormal circulating organic compound concentration	2643	GCH1	OMIM:233910
HP:0430071	Abnormal circulating organic compound concentration	5805	PTS	OMIM:261640
HP:0430071	Abnormal circulating organic compound concentration	5860	QDPR	OMIM:261630
HP:0430071	Abnormal circulating organic compound concentration	2746	GLUD1	ORPHA:35878
HP:0430071	Abnormal circulating organic compound concentration	2746	GLUD1	OMIM:606762
HP:0430071	Abnormal circulating organic compound concentration	1374	CPT1A	ORPHA:156
HP:0430071	Abnormal circulating organic compound concentration	1374	CPT1A	OMIM:255120
HP:0430071	Abnormal circulating organic compound concentration	5313	PKLR	OMIM:266200
HP:0430071	Abnormal circulating organic compound concentration	5313	PKLR	ORPHA:766
HP:0430071	Abnormal circulating organic compound concentration	55532	SLC30A10	OMIM:613280
HP:0430071	Abnormal circulating organic compound concentration	374354	NHLRC2	OMIM:618278
HP:0430071	Abnormal circulating organic compound concentration	8573	CASK	OMIM:300908
HP:0430071	Abnormal circulating organic compound concentration	2539	G6PD	OMIM:300908
HP:0430071	Abnormal circulating organic compound concentration	7080	NKX2-1	ORPHA:95713
HP:0430071	Abnormal circulating organic compound concentration	1482	NKX2-5	ORPHA:95713
HP:0430071	Abnormal circulating organic compound concentration	2304	FOXE1	ORPHA:95713
HP:0430071	Abnormal circulating organic compound concentration	5172	SLC26A4	ORPHA:95713
HP:0430071	Abnormal circulating organic compound concentration	10056	FARSB	OMIM:613658
HP:0430071	Abnormal circulating organic compound concentration	8085	KMT2D	OMIM:620186
HP:0430071	Abnormal circulating organic compound concentration	3664	IRF6	ORPHA:1300
HP:0430071	Abnormal circulating organic compound concentration	275	AMT	OMIM:620398
HP:0430071	Abnormal circulating organic compound concentration	4929	NR4A2	ORPHA:98808
HP:0430071	Abnormal circulating organic compound concentration	3615	IMPDH2	ORPHA:98808
HP:0430071	Abnormal circulating organic compound concentration	6341	SCO1	OMIM:619048
HP:0430071	Abnormal circulating organic compound concentration	9377	COX5A	OMIM:619064
HP:0430071	Abnormal circulating organic compound concentration	5625	PRODH	OMIM:600850
HP:0430071	Abnormal circulating organic compound concentration	5625	PRODH	OMIM:239500
HP:0430071	Abnormal circulating organic compound concentration	5625	PRODH	ORPHA:419
HP:0430071	Abnormal circulating organic compound concentration	4718	NDUFC2	OMIM:619170
HP:0430071	Abnormal circulating organic compound concentration	1352	COX10	OMIM:619046
HP:0430071	Abnormal circulating organic compound concentration	54704	PDP1	ORPHA:79246
HP:0430071	Abnormal circulating organic compound concentration	79736	TEFM	OMIM:620451
HP:0430071	Abnormal circulating organic compound concentration	80222	TARS2	OMIM:615918
HP:0430071	Abnormal circulating organic compound concentration	1161	ERCC8	OMIM:614621
HP:0430071	Abnormal circulating organic compound concentration	1371	CPOX	ORPHA:79273
HP:0430071	Abnormal circulating organic compound concentration	5498	PPOX	ORPHA:79473
HP:0430071	Abnormal circulating organic compound concentration	210	ALAD	ORPHA:100924
HP:0430071	Abnormal circulating organic compound concentration	7390	UROS	ORPHA:79277
HP:0430071	Abnormal circulating organic compound concentration	2623	GATA1	ORPHA:79277
HP:0430071	Abnormal circulating organic compound concentration	2235	FECH	ORPHA:79278
HP:0430071	Abnormal circulating organic compound concentration	7389	UROD	ORPHA:95159
HP:0430071	Abnormal circulating organic compound concentration	8504	PEX3	ORPHA:772
HP:0430071	Abnormal circulating organic compound concentration	9409	PEX16	ORPHA:772
HP:0430071	Abnormal circulating organic compound concentration	9409	PEX16	OMIM:614877
HP:0430071	Abnormal circulating organic compound concentration	8799	PEX11B	ORPHA:772
HP:0430071	Abnormal circulating organic compound concentration	5194	PEX13	ORPHA:772
HP:0430071	Abnormal circulating organic compound concentration	5191	PEX7	OMIM:614879
HP:0430071	Abnormal circulating organic compound concentration	5191	PEX7	OMIM:266500
HP:0430071	Abnormal circulating organic compound concentration	5191	PEX7	OMIM:215100
HP:0430071	Abnormal circulating organic compound concentration	5264	PHYH	OMIM:266500
HP:0430071	Abnormal circulating organic compound concentration	1757	SARDH	ORPHA:3129
HP:0430071	Abnormal circulating organic compound concentration	1757	SARDH	OMIM:268900
HP:0430071	Abnormal circulating organic compound concentration	191	AHCY	ORPHA:88618
HP:0430071	Abnormal circulating organic compound concentration	55163	PNPO	ORPHA:79096
HP:0430071	Abnormal circulating organic compound concentration	10841	FTCD	ORPHA:51208
HP:0430071	Abnormal circulating organic compound concentration	131669	UROC1	ORPHA:210128
HP:0430071	Abnormal circulating organic compound concentration	3034	HAL	OMIM:235800
HP:0430071	Abnormal circulating organic compound concentration	3034	HAL	ORPHA:2157
HP:0430071	Abnormal circulating organic compound concentration	10367	MICU1	OMIM:615673
HP:0430071	Abnormal circulating organic compound concentration	152926	PPM1K	OMIM:615135
HP:0430071	Abnormal circulating organic compound concentration	594	BCKDHB	OMIM:620698
HP:0430071	Abnormal circulating organic compound concentration	587	BCAT2	OMIM:618850
HP:0430071	Abnormal circulating organic compound concentration	8050	PDHX	ORPHA:255182
HP:0430071	Abnormal circulating organic compound concentration	3242	HPD	ORPHA:2118
HP:0430071	Abnormal circulating organic compound concentration	5192	PEX10	ORPHA:247815
HP:0430071	Abnormal circulating organic compound concentration	133686	NADK2	ORPHA:431361
HP:0430071	Abnormal circulating organic compound concentration	51181	DCXR	ORPHA:2843
HP:0430071	Abnormal circulating organic compound concentration	2584	GALK1	OMIM:230200
HP:0430071	Abnormal circulating organic compound concentration	2584	GALK1	ORPHA:79237
HP:0430071	Abnormal circulating organic compound concentration	130589	GALM	ORPHA:570422
HP:0430071	Abnormal circulating organic compound concentration	130589	GALM	OMIM:618881
HP:0430071	Abnormal circulating organic compound concentration	2582	GALE	OMIM:620776
HP:0430071	Abnormal circulating organic compound concentration	2582	GALE	OMIM:230350
HP:0430071	Abnormal circulating organic compound concentration	6514	SLC2A2	OMIM:227810
HP:0430071	Abnormal circulating organic compound concentration	9652	SKIC3	OMIM:222470
HP:0430071	Abnormal circulating organic compound concentration	4942	OAT	OMIM:258870
HP:0430071	Abnormal circulating organic compound concentration	4942	OAT	ORPHA:414
HP:0430071	Abnormal circulating organic compound concentration	283209	PGM2L1	OMIM:620191
HP:0430071	Abnormal circulating organic compound concentration	84033	OBSCN	OMIM:620235
HP:0430071	Abnormal circulating organic compound concentration	84896	ATAD1	OMIM:618011
HP:0430071	Abnormal circulating organic compound concentration	9380	GRHPR	OMIM:260000
HP:0430071	Abnormal circulating organic compound concentration	4780	NFE2L2	OMIM:617744
HP:0430071	Abnormal circulating organic compound concentration	4907	NT5E	ORPHA:289601
HP:0430071	Abnormal circulating organic compound concentration	2593	GAMT	OMIM:612736
HP:0430071	Abnormal circulating organic compound concentration	554	AVPR2	OMIM:300539
HP:0430071	Abnormal circulating organic compound concentration	64218	SEMA4A	ORPHA:440437
HP:0430071	Abnormal circulating organic compound concentration	472	ATM	ORPHA:440437
HP:0430071	Abnormal circulating organic compound concentration	5426	POLE	ORPHA:440437
HP:0430071	Abnormal circulating organic compound concentration	675	BRCA2	ORPHA:440437
HP:0430071	Abnormal circulating organic compound concentration	657	BMPR1A	ORPHA:440437
HP:0430071	Abnormal circulating organic compound concentration	6224	RPS20	ORPHA:440437
HP:0430071	Abnormal circulating organic compound concentration	4595	MUTYH	ORPHA:440437
HP:0430071	Abnormal circulating organic compound concentration	5424	POLD1	ORPHA:440437
HP:0430071	Abnormal circulating organic compound concentration	11200	CHEK2	ORPHA:440437
HP:0430071	Abnormal circulating organic compound concentration	6535	SLC6A8	ORPHA:52503
HP:0430071	Abnormal circulating organic compound concentration	22948	CCT5	OMIM:256840
HP:0430071	Abnormal circulating organic compound concentration	27329	ANGPTL3	OMIM:605019
HP:0430071	Abnormal circulating organic compound concentration	345	APOC3	OMIM:614028
HP:0430071	Abnormal circulating organic compound concentration	55768	NGLY1	ORPHA:404454
HP:0430071	Abnormal circulating organic compound concentration	2590	GALNT2	OMIM:618885
HP:0430071	Abnormal circulating organic compound concentration	1071	CETP	OMIM:143470
HP:0430071	Abnormal circulating organic compound concentration	22	ABCB7	OMIM:301310
HP:0430071	Abnormal circulating organic compound concentration	22	ABCB7	ORPHA:2802
HP:0430071	Abnormal circulating organic compound concentration	10845	CLPX	OMIM:618015
HP:0430071	Abnormal circulating organic compound concentration	212	ALAS2	OMIM:300752
HP:0430071	Abnormal circulating organic compound concentration	9414	TJP2	OMIM:607748
HP:0430071	Abnormal circulating organic compound concentration	6888	TALDO1	ORPHA:101028
HP:0430071	Abnormal circulating organic compound concentration	6554	SLC10A1	OMIM:619256
HP:0430071	Abnormal circulating organic compound concentration	55898	UNC45A	OMIM:619377
HP:0430071	Abnormal circulating organic compound concentration	57003	CCDC47	OMIM:618268
HP:0430071	Abnormal circulating organic compound concentration	162	AP1B1	OMIM:242150
HP:0430071	Abnormal circulating organic compound concentration	199221	DZIP1L	ORPHA:731
HP:0430071	Abnormal circulating organic compound concentration	5314	PKHD1	ORPHA:731
HP:0430071	Abnormal circulating organic compound concentration	134218	DNAJC21	ORPHA:811
HP:0430071	Abnormal circulating organic compound concentration	79631	EFL1	ORPHA:811
HP:0430071	Abnormal circulating organic compound concentration	51119	SBDS	ORPHA:811
HP:0430071	Abnormal circulating organic compound concentration	26227	PHGDH	ORPHA:79351
HP:0430071	Abnormal circulating organic compound concentration	5723	PSPH	ORPHA:79350
HP:0430071	Abnormal circulating organic compound concentration	5723	PSPH	OMIM:614023
HP:0430071	Abnormal circulating organic compound concentration	22934	RPIA	OMIM:608611
HP:0430071	Abnormal circulating organic compound concentration	7086	TKT	ORPHA:488618
HP:0430071	Abnormal circulating organic compound concentration	5321	PLA2G4A	OMIM:618372
HP:0430071	Abnormal circulating organic compound concentration	4056	LTC4S	OMIM:614037
HP:0430071	Abnormal circulating organic compound concentration	3158	HMGCS2	OMIM:605911
HP:0430071	Abnormal circulating organic compound concentration	22845	DOLK	OMIM:610768
HP:0430071	Abnormal circulating organic compound concentration	6718	AKR1D1	ORPHA:79303
HP:0430071	Abnormal circulating organic compound concentration	79048	SECISBP2	ORPHA:171706
HP:0430071	Abnormal circulating organic compound concentration	4312	MMP1	ORPHA:79408
HP:0430071	Abnormal circulating organic compound concentration	1294	COL7A1	ORPHA:79408
HP:0430071	Abnormal circulating organic compound concentration	1294	COL7A1	ORPHA:89842
HP:0430071	Abnormal circulating organic compound concentration	29958	DMGDH	OMIM:605850
HP:0430071	Abnormal circulating organic compound concentration	443	ASPA	OMIM:271900
HP:0430071	Abnormal circulating organic compound concentration	2222	FDFT1	OMIM:618156
HP:0430071	Abnormal circulating organic compound concentration	6652	SORD	OMIM:618912
HP:0430071	Abnormal circulating organic compound concentration	1807	DPYS	OMIM:222748
HP:0430071	Abnormal circulating organic compound concentration	5176	SERPINF1	OMIM:613982
HP:0430071	Abnormal circulating organic compound concentration	593	BCKDHA	OMIM:248600
HP:0430071	Abnormal circulating organic compound concentration	7385	UQCRC2	OMIM:615160
HP:0430071	Abnormal circulating organic compound concentration	7234	TRU-TCA1-1	OMIM:620198
HP:0430071	Abnormal circulating organic compound concentration	27247	NFU1	OMIM:605711
HP:0430071	Abnormal circulating organic compound concentration	23474	ETHE1	OMIM:602473
HP:0430071	Abnormal circulating organic compound concentration	8482	SEMA7A	OMIM:619874
HP:0430071	Abnormal circulating organic compound concentration	5190	PEX6	OMIM:614862
HP:0430071	Abnormal circulating organic compound concentration	10134	BCAP31	ORPHA:369942
HP:0430071	Abnormal circulating organic compound concentration	5828	PEX2	OMIM:614866
HP:0430071	Abnormal circulating organic compound concentration	5195	PEX14	OMIM:614887
HP:0430071	Abnormal circulating organic compound concentration	3295	HSD17B4	OMIM:261515
HP:0430071	Abnormal circulating organic compound concentration	23600	AMACR	OMIM:614307
HP:0430071	Abnormal circulating organic compound concentration	85021	REPS1	OMIM:617916
HP:0430071	Abnormal circulating organic compound concentration	1174	AP1S1	OMIM:609313
HP:0430071	Abnormal circulating organic compound concentration	123264	SLC51B	OMIM:619481
HP:0430071	Abnormal circulating organic compound concentration	1890	TYMP	OMIM:603041
HP:0430071	Abnormal circulating organic compound concentration	3028	HSD17B10	OMIM:300438
HP:0430071	Abnormal circulating organic compound concentration	55670	PEX26	OMIM:614872
HP:0430071	Abnormal circulating organic compound concentration	10059	DNM1L	OMIM:614388
HP:0430071	Abnormal circulating organic compound concentration	501	ALDH7A1	OMIM:266100
HP:0430071	Abnormal circulating organic compound concentration	644	BLVRA	OMIM:614156
HP:0430071	Abnormal circulating organic compound concentration	6342	SCP2	OMIM:613724
HP:0430071	Abnormal circulating organic compound concentration	132	ADK	OMIM:614300
HP:0430071	Abnormal circulating organic compound concentration	6309	SC5D	OMIM:607330
HP:0430071	Abnormal circulating organic compound concentration	3418	IDH2	OMIM:613657
HP:0430071	Abnormal circulating organic compound concentration	79944	L2HGDH	OMIM:236792
HP:0430071	Abnormal circulating organic compound concentration	7941	PLA2G7	OMIM:614278
HP:0430071	Abnormal circulating organic compound concentration	6697	SPR	OMIM:612716
HP:0430071	Abnormal circulating organic compound concentration	5092	PCBD1	ORPHA:1578
HP:0430071	Abnormal circulating organic compound concentration	7351	UCP2	ORPHA:276556
HP:0430071	Abnormal circulating organic compound concentration	6833	ABCC8	ORPHA:276575
HP:0430071	Abnormal circulating organic compound concentration	3767	KCNJ11	ORPHA:79644
HP:0430071	Abnormal circulating organic compound concentration	8309	ACOX2	OMIM:617308
HP:0430071	Abnormal circulating organic compound concentration	35	ACADS	ORPHA:26792
HP:0430071	Abnormal circulating organic compound concentration	55065	SLC52A1	OMIM:615026
HP:0430071	Abnormal circulating organic compound concentration	90624	LYRM7	OMIM:615838
HP:0430071	Abnormal circulating organic compound concentration	4952	OCRL	ORPHA:534
HP:0430071	Abnormal circulating organic compound concentration	26191	PTPN22	OMIM:222100
HP:0430071	Abnormal circulating organic compound concentration	3710	ITPR3	OMIM:222100
HP:0430071	Abnormal circulating organic compound concentration	3569	IL6	OMIM:222100
HP:0430071	Abnormal circulating organic compound concentration	6927	HNF1A	OMIM:222100
HP:0430071	Abnormal circulating organic compound concentration	54532	USP53	OMIM:619658
HP:0430071	Abnormal circulating organic compound concentration	4353	MPO	OMIM:104300
HP:0430071	Abnormal circulating organic compound concentration	4846	NOS3	OMIM:104300
HP:0430071	Abnormal circulating organic compound concentration	5328	PLAU	OMIM:104300
HP:0430071	Abnormal circulating organic compound concentration	351	APP	OMIM:104300
HP:0430071	Abnormal circulating organic compound concentration	2592	GALT	OMIM:230400
HP:0430071	Abnormal circulating organic compound concentration	53630	BCO1	OMIM:115300
HP:0430071	Abnormal circulating organic compound concentration	6999	TDO2	OMIM:600627
HP:0430071	Abnormal circulating organic compound concentration	10295	BCKDK	OMIM:614923
HP:0430071	Abnormal circulating organic compound concentration	4190	MDH1	OMIM:618959
HP:0430071	Abnormal circulating organic compound concentration	440	ASNS	OMIM:615574
HP:0430071	Abnormal circulating organic compound concentration	10243	GPHN	OMIM:615501
HP:0430071	Abnormal circulating organic compound concentration	8802	SUCLG1	OMIM:245400
HP:0430071	Abnormal circulating organic compound concentration	6533	SLC6A6	OMIM:145350
HP:0430071	Abnormal circulating organic compound concentration	8443	GNPAT	OMIM:222765
HP:0430071	Abnormal circulating organic compound concentration	1621	DBH	OMIM:223360
HP:0430071	Abnormal circulating organic compound concentration	132158	GLYCTK	OMIM:220120
HP:0430071	Abnormal circulating organic compound concentration	6901	TAFAZZIN	OMIM:302060
HP:0430071	Abnormal circulating organic compound concentration	7915	ALDH5A1	OMIM:271980
HP:0430071	Abnormal circulating organic compound concentration	8659	ALDH4A1	OMIM:239510
HP:0430071	Abnormal circulating organic compound concentration	51733	UPB1	OMIM:613161
HP:0430071	Abnormal circulating organic compound concentration	6307	MSMO1	OMIM:616834
HP:0430071	Abnormal circulating organic compound concentration	8942	KYNU	OMIM:617661
HP:0430071	Abnormal circulating organic compound concentration	1593	CYP27A1	OMIM:213700
HP:0001131	Corneal dystrophy	83959	SLC4A11	OMIM:217400
HP:0001131	Corneal dystrophy	83959	SLC4A11	OMIM:217700
HP:0001131	Corneal dystrophy	83959	SLC4A11	ORPHA:1490
HP:0001131	Corneal dystrophy	83959	SLC4A11	OMIM:613268
HP:0001131	Corneal dystrophy	4166	CHST6	OMIM:217800
HP:0001131	Corneal dystrophy	4081	MAB21L1	ORPHA:495875
HP:0001131	Corneal dystrophy	6935	ZEB1	OMIM:613270
HP:0001131	Corneal dystrophy	6935	ZEB1	OMIM:609141
HP:0001131	Corneal dystrophy	2717	GLA	OMIM:301500
HP:0001131	Corneal dystrophy	2717	GLA	ORPHA:324
HP:0001131	Corneal dystrophy	7045	TGFBI	OMIM:608470
HP:0001131	Corneal dystrophy	7045	TGFBI	OMIM:121820
HP:0001131	Corneal dystrophy	7045	TGFBI	OMIM:602082
HP:0001131	Corneal dystrophy	4070	TACSTD2	OMIM:204870
HP:0001131	Corneal dystrophy	1296	COL8A2	OMIM:609140
HP:0001131	Corneal dystrophy	1296	COL8A2	OMIM:136800
HP:0001131	Corneal dystrophy	1634	DCN	OMIM:610048
HP:0001131	Corneal dystrophy	29914	UBIAD1	OMIM:121800
HP:0001131	Corneal dystrophy	1308	COL17A1	ORPHA:293381
HP:0001131	Corneal dystrophy	291	SLC25A4	ORPHA:1369
HP:0001131	Corneal dystrophy	26007	TKFC	ORPHA:1369
HP:0001131	Corneal dystrophy	55750	AGK	ORPHA:1369
HP:0001131	Corneal dystrophy	2776	GNAQ	ORPHA:3205
HP:0001131	Corneal dystrophy	51360	MBTPS2	OMIM:308800
HP:0001131	Corneal dystrophy	2652	OPN1MW	ORPHA:16
HP:0001131	Corneal dystrophy	5956	OPN1LW	ORPHA:16
HP:0001131	Corneal dystrophy	23404	EXOSC2	OMIM:617763
HP:0001131	Corneal dystrophy	3859	KRT12	OMIM:122100
HP:0001131	Corneal dystrophy	123624	AGBL1	OMIM:615523
HP:0001131	Corneal dystrophy	4591	TRIM37	OMIM:253250
HP:0001131	Corneal dystrophy	2703	GJA8	ORPHA:1377
HP:0001131	Corneal dystrophy	4094	MAF	ORPHA:1377
HP:0001131	Corneal dystrophy	1413	CRYBA4	ORPHA:1377
HP:0001131	Corneal dystrophy	1409	CRYAA	ORPHA:1377
HP:0001131	Corneal dystrophy	1415	CRYBB2	ORPHA:1377
HP:0001131	Corneal dystrophy	1414	CRYBB1	ORPHA:1377
HP:0001131	Corneal dystrophy	1420	CRYGC	ORPHA:1377
HP:0001131	Corneal dystrophy	1421	CRYGD	ORPHA:1377
HP:0001131	Corneal dystrophy	11107	PRDM5	ORPHA:90354
HP:0001131	Corneal dystrophy	84627	ZNF469	ORPHA:90354
HP:0001131	Corneal dystrophy	2934	GSN	ORPHA:85448
HP:0001131	Corneal dystrophy	2934	GSN	OMIM:105120
HP:0001131	Corneal dystrophy	57192	MCOLN1	OMIM:620763
HP:0001131	Corneal dystrophy	91851	CHRDL1	OMIM:309300
HP:0001131	Corneal dystrophy	285440	CYP4V2	OMIM:210370
HP:0001131	Corneal dystrophy	200576	PIKFYVE	OMIM:121850
HP:0001132	Lens subluxation	80781	COL18A1	OMIM:267750
HP:0001132	Lens subluxation	444	ASPH	OMIM:601552
HP:0001132	Lens subluxation	875	CBS	ORPHA:394
HP:0001132	Lens subluxation	875	CBS	OMIM:236200
HP:0001132	Lens subluxation	4016	LOXL1	OMIM:177650
HP:0001132	Lens subluxation	26610	ELP4	OMIM:617141
HP:0001132	Lens subluxation	55214	P3H2	OMIM:614292
HP:0001132	Lens subluxation	5130	PCYT1A	ORPHA:85167
HP:0001132	Lens subluxation	5130	PCYT1A	OMIM:608940
HP:0001132	Lens subluxation	91851	CHRDL1	OMIM:309300
HP:0001132	Lens subluxation	6297	SALL2	OMIM:216820
HP:0001132	Lens subluxation	1280	COL2A1	ORPHA:93296
HP:0001132	Lens subluxation	8314	BAP1	ORPHA:39044
HP:0001132	Lens subluxation	57105	CYSLTR2	ORPHA:39044
HP:0001132	Lens subluxation	2776	GNAQ	ORPHA:39044
HP:0001132	Lens subluxation	2767	GNA11	ORPHA:39044
HP:0001132	Lens subluxation	23451	SF3B1	ORPHA:39044
HP:0001133	Constriction of peripheral visual field	50964	SOST	OMIM:269500
HP:0001133	Constriction of peripheral visual field	7287	TULP1	OMIM:600132
HP:0001133	Constriction of peripheral visual field	7287	TULP1	OMIM:613843
HP:0001133	Constriction of peripheral visual field	26160	IFT172	OMIM:619471
HP:0001133	Constriction of peripheral visual field	26121	PRPF31	OMIM:600138
HP:0001133	Constriction of peripheral visual field	10594	PRPF8	OMIM:600059
HP:0001133	Constriction of peripheral visual field	1121	CHM	OMIM:303100
HP:0001133	Constriction of peripheral visual field	1121	CHM	ORPHA:180
HP:0001133	Constriction of peripheral visual field	5949	RBP3	OMIM:615233
HP:0001133	Constriction of peripheral visual field	5949	RBP3	OMIM:268000
HP:0001133	Constriction of peripheral visual field	583	BBS2	OMIM:616562
HP:0001133	Constriction of peripheral visual field	22901	ARSG	OMIM:618144
HP:0001133	Constriction of peripheral visual field	285440	CYP4V2	ORPHA:41751
HP:0001133	Constriction of peripheral visual field	285440	CYP4V2	OMIM:210370
HP:0001133	Constriction of peripheral visual field	6295	SAG	OMIM:620228
HP:0001133	Constriction of peripheral visual field	84839	RAX2	OMIM:620102
HP:0001133	Constriction of peripheral visual field	23600	AMACR	OMIM:614307
HP:0001133	Constriction of peripheral visual field	6094	ROM1	OMIM:608133
HP:0001133	Constriction of peripheral visual field	6094	ROM1	OMIM:268000
HP:0001133	Constriction of peripheral visual field	5961	PRPH2	OMIM:608133
HP:0001133	Constriction of peripheral visual field	10059	DNM1L	OMIM:610708
HP:0001133	Constriction of peripheral visual field	7401	CLRN1	OMIM:268000
HP:0001133	Constriction of peripheral visual field	157657	CFAP418	OMIM:268000
HP:0001133	Constriction of peripheral visual field	157657	CFAP418	OMIM:617406
HP:0001133	Constriction of peripheral visual field	9227	LRAT	OMIM:268000
HP:0001133	Constriction of peripheral visual field	1259	CNGA1	OMIM:268000
HP:0001133	Constriction of peripheral visual field	5148	PDE6G	OMIM:268000
HP:0001133	Constriction of peripheral visual field	5148	PDE6G	OMIM:613582
HP:0001133	Constriction of peripheral visual field	23746	AIPL1	OMIM:268000
HP:0001133	Constriction of peripheral visual field	1406	CRX	OMIM:268000
HP:0001133	Constriction of peripheral visual field	1406	CRX	OMIM:120970
HP:0001133	Constriction of peripheral visual field	84100	ARL6	OMIM:268000
HP:0001133	Constriction of peripheral visual field	6101	RP1	OMIM:180100
HP:0001133	Constriction of peripheral visual field	3098	HK1	OMIM:617460
HP:0001133	Constriction of peripheral visual field	92211	CDHR1	OMIM:613660
HP:0001133	Constriction of peripheral visual field	3420	IDH3B	OMIM:612572
HP:0001133	Constriction of peripheral visual field	24148	PRPF6	OMIM:613983
HP:0001133	Constriction of peripheral visual field	92840	REEP6	OMIM:617304
HP:0001133	Constriction of peripheral visual field	10461	MERTK	OMIM:613862
HP:0001133	Constriction of peripheral visual field	79947	DHDDS	OMIM:613861
HP:0001133	Constriction of peripheral visual field	9128	PRPF4	OMIM:615922
HP:0001133	Constriction of peripheral visual field	3419	IDH3A	OMIM:619007
HP:0001133	Constriction of peripheral visual field	57545	CC2D2A	OMIM:619845
HP:0001133	Constriction of peripheral visual field	9371	KIF3B	OMIM:618955
HP:0001133	Constriction of peripheral visual field	93589	CACNA2D4	OMIM:610478
HP:0001133	Constriction of peripheral visual field	84140	FAM161A	OMIM:606068
HP:0001133	Constriction of peripheral visual field	57096	RPGRIP1	OMIM:613826
HP:0001133	Constriction of peripheral visual field	57096	RPGRIP1	OMIM:608194
HP:0001133	Constriction of peripheral visual field	5191	PEX7	OMIM:614879
HP:0001133	Constriction of peripheral visual field	54471	MIEF1	OMIM:620550
HP:0001133	Constriction of peripheral visual field	4942	OAT	ORPHA:414
HP:0001133	Constriction of peripheral visual field	55670	PEX26	ORPHA:772
HP:0001133	Constriction of peripheral visual field	5824	PEX19	ORPHA:772
HP:0001133	Constriction of peripheral visual field	5828	PEX2	ORPHA:772
HP:0001133	Constriction of peripheral visual field	8504	PEX3	ORPHA:772
HP:0001133	Constriction of peripheral visual field	9409	PEX16	ORPHA:772
HP:0001133	Constriction of peripheral visual field	5190	PEX6	ORPHA:772
HP:0001133	Constriction of peripheral visual field	8799	PEX11B	ORPHA:772
HP:0001133	Constriction of peripheral visual field	5830	PEX5	ORPHA:772
HP:0001133	Constriction of peripheral visual field	5189	PEX1	ORPHA:772
HP:0001133	Constriction of peripheral visual field	5193	PEX12	ORPHA:772
HP:0001133	Constriction of peripheral visual field	5194	PEX13	ORPHA:772
HP:0001133	Constriction of peripheral visual field	5195	PEX14	ORPHA:772
HP:0001133	Constriction of peripheral visual field	5192	PEX10	ORPHA:772
HP:0001133	Constriction of peripheral visual field	346007	EYS	OMIM:602772
HP:0001133	Constriction of peripheral visual field	6452	SH3BP2	OMIM:118400
HP:0001133	Constriction of peripheral visual field	326	AIRE	OMIM:240300
HP:0001133	Constriction of peripheral visual field	79797	ZNF408	OMIM:616469
HP:0001133	Constriction of peripheral visual field	282809	POC1B	OMIM:615973
HP:0001133	Constriction of peripheral visual field	4901	NRL	OMIM:613750
HP:0001133	Constriction of peripheral visual field	10002	NR2E3	OMIM:611131
HP:0001133	Constriction of peripheral visual field	8565	YARS1	OMIM:619418
HP:0001133	Constriction of peripheral visual field	64834	ELOVL1	OMIM:618527
HP:0001133	Constriction of peripheral visual field	138050	HGSNAT	OMIM:616544
HP:0001133	Constriction of peripheral visual field	2779	GNAT1	OMIM:616389
HP:0001133	Constriction of peripheral visual field	80201	HKDC1	OMIM:619614
HP:0001133	Constriction of peripheral visual field	6100	RP9	OMIM:180104
HP:0001133	Constriction of peripheral visual field	55812	SPATA7	OMIM:604232
HP:0001133	Constriction of peripheral visual field	7840	ALMS1	OMIM:203800
HP:0001133	Constriction of peripheral visual field	6102	RP2	OMIM:312600
HP:0001133	Constriction of peripheral visual field	84233	TMEM126A	OMIM:612989
HP:0001133	Constriction of peripheral visual field	4508	MT-ATP6	ORPHA:644
HP:0001133	Constriction of peripheral visual field	3614	IMPDH1	OMIM:180105
HP:0001133	Constriction of peripheral visual field	1678	TIMM8A	OMIM:304700
HP:0001133	Constriction of peripheral visual field	403	ARL3	OMIM:618173
HP:0001133	Constriction of peripheral visual field	6103	RPGR	OMIM:300029
HP:0001133	Constriction of peripheral visual field	8481	OFD1	OMIM:300424
HP:0001133	Constriction of peripheral visual field	24	ABCA4	OMIM:601718
HP:0001133	Constriction of peripheral visual field	55857	KIZ	OMIM:615780
HP:0001133	Constriction of peripheral visual field	55624	POMGNT1	OMIM:617123
HP:0001133	Constriction of peripheral visual field	51109	RDH11	ORPHA:436245
HP:0001133	Constriction of peripheral visual field	375298	CERKL	OMIM:608380
HP:0001133	Constriction of peripheral visual field	5995	RGR	OMIM:613769
HP:0001133	Constriction of peripheral visual field	8216	LZTR1	OMIM:605275
HP:0001133	Constriction of peripheral visual field	4976	OPA1	ORPHA:1215
HP:0001133	Constriction of peripheral visual field	6017	RLBP1	ORPHA:791
HP:0001133	Constriction of peripheral visual field	6017	RLBP1	ORPHA:52427
HP:0001133	Constriction of peripheral visual field	130557	ZNF513	ORPHA:791
HP:0001133	Constriction of peripheral visual field	130557	ZNF513	OMIM:613617
HP:0001133	Constriction of peripheral visual field	582	BBS1	ORPHA:791
HP:0001133	Constriction of peripheral visual field	582	BBS1	OMIM:209900
HP:0001133	Constriction of peripheral visual field	23568	ARL2BP	ORPHA:791
HP:0001133	Constriction of peripheral visual field	6121	RPE65	ORPHA:791
HP:0001133	Constriction of peripheral visual field	6121	RPE65	ORPHA:364055
HP:0001133	Constriction of peripheral visual field	6121	RPE65	OMIM:618697
HP:0001133	Constriction of peripheral visual field	54806	AHI1	ORPHA:791
HP:0001133	Constriction of peripheral visual field	4751	NEK2	ORPHA:791
HP:0001133	Constriction of peripheral visual field	8100	IFT88	ORPHA:791
HP:0001133	Constriction of peripheral visual field	23020	SNRNP200	ORPHA:791
HP:0001133	Constriction of peripheral visual field	762	CA4	ORPHA:791
HP:0001133	Constriction of peripheral visual field	196	AHR	ORPHA:791
HP:0001133	Constriction of peripheral visual field	123016	TTC8	ORPHA:791
HP:0001133	Constriction of peripheral visual field	4117	MAK	ORPHA:791
HP:0001133	Constriction of peripheral visual field	25794	FSCN2	ORPHA:791
HP:0001133	Constriction of peripheral visual field	57670	KIAA1549	ORPHA:791
HP:0001133	Constriction of peripheral visual field	7275	TUB	ORPHA:791
HP:0001133	Constriction of peripheral visual field	23418	CRB1	ORPHA:791
HP:0001133	Constriction of peripheral visual field	57709	SLC7A14	ORPHA:791
HP:0001133	Constriction of peripheral visual field	768206	PRCD	ORPHA:791
HP:0001133	Constriction of peripheral visual field	7399	USH2A	ORPHA:791
HP:0001133	Constriction of peripheral visual field	23370	ARHGEF18	ORPHA:791
HP:0001133	Constriction of peripheral visual field	6010	RHO	ORPHA:791
HP:0001133	Constriction of peripheral visual field	6010	RHO	ORPHA:52427
HP:0001133	Constriction of peripheral visual field	5145	PDE6A	ORPHA:791
HP:0001133	Constriction of peripheral visual field	5145	PDE6A	OMIM:613810
HP:0001133	Constriction of peripheral visual field	10210	TOPORS	ORPHA:791
HP:0001133	Constriction of peripheral visual field	8842	PROM1	ORPHA:791
HP:0001133	Constriction of peripheral visual field	8842	PROM1	OMIM:612095
HP:0001133	Constriction of peripheral visual field	145226	RDH12	ORPHA:791
HP:0001133	Constriction of peripheral visual field	50939	IMPG2	ORPHA:791
HP:0001133	Constriction of peripheral visual field	49855	SCAPER	ORPHA:791
HP:0001133	Constriction of peripheral visual field	9742	IFT140	ORPHA:791
HP:0001133	Constriction of peripheral visual field	9742	IFT140	OMIM:266920
HP:0001133	Constriction of peripheral visual field	2979	GUCA1B	ORPHA:791
HP:0001133	Constriction of peripheral visual field	1258	CNGB1	ORPHA:791
HP:0001133	Constriction of peripheral visual field	1258	CNGB1	OMIM:613767
HP:0001133	Constriction of peripheral visual field	60509	AGBL5	ORPHA:791
HP:0001133	Constriction of peripheral visual field	60509	AGBL5	OMIM:617023
HP:0001133	Constriction of peripheral visual field	388939	PCARE	ORPHA:791
HP:0001133	Constriction of peripheral visual field	7439	BEST1	ORPHA:791
HP:0001133	Constriction of peripheral visual field	9785	DHX38	ORPHA:791
HP:0001133	Constriction of peripheral visual field	9129	PRPF3	ORPHA:791
HP:0001133	Constriction of peripheral visual field	55975	KLHL7	ORPHA:791
HP:0001133	Constriction of peripheral visual field	3617	IMPG1	ORPHA:791
HP:0001133	Constriction of peripheral visual field	94137	RP1L1	ORPHA:791
HP:0001133	Constriction of peripheral visual field	5158	PDE6B	ORPHA:791
HP:0001133	Constriction of peripheral visual field	64218	SEMA4A	ORPHA:791
HP:0001133	Constriction of peripheral visual field	64218	SEMA4A	OMIM:610283
HP:0001133	Constriction of peripheral visual field	6389	SDHA	OMIM:619259
HP:0001133	Constriction of peripheral visual field	50484	RRM2B	OMIM:268315
HP:0001133	Constriction of peripheral visual field	3423	IDS	ORPHA:217085
HP:0001133	Constriction of peripheral visual field	3423	IDS	ORPHA:217093
HP:0001133	Constriction of peripheral visual field	79140	CCDC28B	OMIM:209900
HP:0001133	Constriction of peripheral visual field	6533	SLC6A6	OMIM:145350
HP:0001133	Constriction of peripheral visual field	10283	CWC27	OMIM:250410
HP:0001133	Constriction of peripheral visual field	1737	DLAT	ORPHA:79244
HP:0001133	Constriction of peripheral visual field	3000	GUCY2D	OMIM:601777
HP:0001133	Constriction of peripheral visual field	5959	RDH5	ORPHA:52427
HP:0001133	Constriction of peripheral visual field	167691	LCA5	ORPHA:364055
HP:0001133	Constriction of peripheral visual field	100151683	RNU4ATAC	OMIM:226960
HP:0001133	Constriction of peripheral visual field	79628	SH3TC2	ORPHA:99949
HP:0001133	Constriction of peripheral visual field	2202	EFEMP1	ORPHA:98977
HP:0001133	Constriction of peripheral visual field	1545	CYP1B1	ORPHA:98977
HP:0001133	Constriction of peripheral visual field	4653	MYOC	ORPHA:98977
HP:0001133	Constriction of peripheral visual field	5456	POU3F4	ORPHA:1435
HP:0001134	Anterior polar cataract	9653	HS2ST1	OMIM:619194
HP:0001134	Anterior polar cataract	3299	HSF4	OMIM:116800
HP:0001134	Anterior polar cataract	10682	EBP	OMIM:300960
HP:0001134	Anterior polar cataract	57551	TAOK1	OMIM:619575
HP:0001134	Anterior polar cataract	1419	CRYGB	OMIM:615188
HP:0001134	Anterior polar cataract	406960	MIR184	OMIM:614303
HP:0001134	Anterior polar cataract	1285	COL4A3	OMIM:104200
HP:0001134	Anterior polar cataract	8216	LZTR1	OMIM:605275
HP:0001134	Anterior polar cataract	51163	DBR1	OMIM:620510
HP:0001135	Chorioretinal dystrophy	10908	PNPLA6	OMIM:215470
HP:0001135	Chorioretinal dystrophy	10908	PNPLA6	ORPHA:1180
HP:0001135	Chorioretinal dystrophy	89910	UBE3B	ORPHA:2707
HP:0001135	Chorioretinal dystrophy	157680	VPS13B	ORPHA:193
HP:0001135	Chorioretinal dystrophy	157680	VPS13B	OMIM:216550
HP:0001136	Retinal arteriolar tortuosity	84168	ANTXR1	OMIM:230740
HP:0001136	Retinal arteriolar tortuosity	1282	COL4A1	OMIM:180000
HP:0001136	Retinal arteriolar tortuosity	1282	COL4A1	OMIM:611773
HP:0001136	Retinal arteriolar tortuosity	1282	COL4A1	OMIM:175780
HP:0001136	Retinal arteriolar tortuosity	6804	STX1A	ORPHA:904
HP:0001136	Retinal arteriolar tortuosity	7461	CLIP2	ORPHA:904
HP:0001136	Retinal arteriolar tortuosity	84277	DNAJC30	ORPHA:904
HP:0001136	Retinal arteriolar tortuosity	8468	FKBP6	ORPHA:904
HP:0001136	Retinal arteriolar tortuosity	5982	RFC2	ORPHA:904
HP:0001136	Retinal arteriolar tortuosity	2969	GTF2I	ORPHA:904
HP:0001136	Retinal arteriolar tortuosity	3984	LIMK1	ORPHA:904
HP:0001136	Retinal arteriolar tortuosity	9569	GTF2IRD1	ORPHA:904
HP:0001136	Retinal arteriolar tortuosity	155382	VPS37D	ORPHA:904
HP:0001136	Retinal arteriolar tortuosity	155368	METTL27	ORPHA:904
HP:0001136	Retinal arteriolar tortuosity	114049	BUD23	ORPHA:904
HP:0001136	Retinal arteriolar tortuosity	7458	EIF4H	ORPHA:904
HP:0001136	Retinal arteriolar tortuosity	84163	GTF2IRD2	ORPHA:904
HP:0001136	Retinal arteriolar tortuosity	26608	TBL2	ORPHA:904
HP:0001136	Retinal arteriolar tortuosity	653361	NCF1	ORPHA:904
HP:0001136	Retinal arteriolar tortuosity	135886	TMEM270	ORPHA:904
HP:0001136	Retinal arteriolar tortuosity	9031	BAZ1B	ORPHA:904
HP:0001136	Retinal arteriolar tortuosity	2006	ELN	ORPHA:904
HP:0001136	Retinal arteriolar tortuosity	2006	ELN	OMIM:194050
HP:0001136	Retinal arteriolar tortuosity	4693	NDP	ORPHA:90050
HP:0001136	Retinal arteriolar tortuosity	4041	LRP5	ORPHA:90050
HP:0001136	Retinal arteriolar tortuosity	8322	FZD4	ORPHA:90050
HP:0001136	Retinal arteriolar tortuosity	51085	MLXIPL	OMIM:194050
HP:0001136	Retinal arteriolar tortuosity	4508	MT-ATP6	ORPHA:644
HP:0001136	Retinal arteriolar tortuosity	1312	COMT	ORPHA:567
HP:0001136	Retinal arteriolar tortuosity	221037	JMJD1C	ORPHA:567
HP:0001136	Retinal arteriolar tortuosity	2812	GP1BB	ORPHA:567
HP:0001136	Retinal arteriolar tortuosity	6239	RREB1	ORPHA:567
HP:0001136	Retinal arteriolar tortuosity	6899	TBX1	ORPHA:567
HP:0001136	Retinal arteriolar tortuosity	7290	HIRA	ORPHA:567
HP:0001136	Retinal arteriolar tortuosity	9632	SEC24C	ORPHA:567
HP:0001136	Retinal arteriolar tortuosity	7353	UFD1	ORPHA:567
HP:0001136	Retinal arteriolar tortuosity	421	ARVCF	ORPHA:567
HP:0001137	Alternating esotropia	1804	DPP6	ORPHA:2514
HP:0001137	Alternating esotropia	4001	LMNB1	ORPHA:2514
HP:0001137	Alternating esotropia	1185	CLCN6	OMIM:619173
HP:0001137	Alternating esotropia	84342	COG8	ORPHA:95428
HP:0001137	Alternating esotropia	84342	COG8	OMIM:611182
HP:0001137	Alternating esotropia	8777	MPDZ	OMIM:615219
HP:0001137	Alternating esotropia	324	APC	ORPHA:99818
HP:0001137	Alternating esotropia	146167	SLC38A8	OMIM:609218
HP:0001137	Alternating esotropia	9578	CDC42BPB	OMIM:619841
HP:0001137	Alternating esotropia	5528	PPP2R5D	ORPHA:457279
HP:0001137	Alternating esotropia	92255	LMBRD2	OMIM:619694
HP:0001138	Optic neuropathy	1822	ATN1	ORPHA:101
HP:0001138	Optic neuropathy	3949	LDLR	ORPHA:391665
HP:0001138	Optic neuropathy	255738	PCSK9	ORPHA:391665
HP:0001138	Optic neuropathy	26119	LDLRAP1	ORPHA:391665
HP:0001138	Optic neuropathy	338	APOB	ORPHA:391665
HP:0001138	Optic neuropathy	64240	ABCG5	ORPHA:391665
HP:0001138	Optic neuropathy	64241	ABCG8	ORPHA:391665
HP:0001138	Optic neuropathy	3123	HLA-DRB1	OMIM:181000
HP:0001138	Optic neuropathy	493856	CISD2	OMIM:604928
HP:0001138	Optic neuropathy	54539	NDUFB11	ORPHA:2609
HP:0001138	Optic neuropathy	25915	NDUFAF3	ORPHA:2609
HP:0001138	Optic neuropathy	51103	NDUFAF1	ORPHA:2609
HP:0001138	Optic neuropathy	91942	NDUFAF2	ORPHA:2609
HP:0001138	Optic neuropathy	51300	TIMMDC1	ORPHA:2609
HP:0001138	Optic neuropathy	4716	NDUFB10	ORPHA:2609
HP:0001138	Optic neuropathy	4723	NDUFV1	ORPHA:2609
HP:0001138	Optic neuropathy	55572	FOXRED1	ORPHA:2609
HP:0001138	Optic neuropathy	284184	NDUFAF8	ORPHA:2609
HP:0001138	Optic neuropathy	55863	TMEM126B	ORPHA:2609
HP:0001138	Optic neuropathy	4535	MT-ND1	ORPHA:2609
HP:0001138	Optic neuropathy	4535	MT-ND1	OMIM:535000
HP:0001138	Optic neuropathy	4537	MT-ND3	ORPHA:2609
HP:0001138	Optic neuropathy	4729	NDUFV2	ORPHA:2609
HP:0001138	Optic neuropathy	4694	NDUFA1	ORPHA:2609
HP:0001138	Optic neuropathy	4720	NDUFS2	ORPHA:2609
HP:0001138	Optic neuropathy	4724	NDUFS4	ORPHA:2609
HP:0001138	Optic neuropathy	4724	NDUFS4	OMIM:252010
HP:0001138	Optic neuropathy	4726	NDUFS6	ORPHA:2609
HP:0001138	Optic neuropathy	4728	NDUFS8	ORPHA:2609
HP:0001138	Optic neuropathy	4722	NDUFS3	ORPHA:2609
HP:0001138	Optic neuropathy	79133	NDUFAF5	ORPHA:2609
HP:0001138	Optic neuropathy	126328	NDUFA11	ORPHA:2609
HP:0001138	Optic neuropathy	4709	NDUFB3	ORPHA:2609
HP:0001138	Optic neuropathy	80224	NUBPL	ORPHA:2609
HP:0001138	Optic neuropathy	29078	NDUFAF4	ORPHA:2609
HP:0001138	Optic neuropathy	374291	NDUFS7	ORPHA:2609
HP:0001138	Optic neuropathy	4700	NDUFA6	ORPHA:2609
HP:0001138	Optic neuropathy	4536	MT-ND2	ORPHA:2609
HP:0001138	Optic neuropathy	4536	MT-ND2	OMIM:535000
HP:0001138	Optic neuropathy	4719	NDUFS1	ORPHA:2609
HP:0001138	Optic neuropathy	4715	NDUFB9	ORPHA:2609
HP:0001138	Optic neuropathy	6452	SH3BP2	OMIM:118400
HP:0001138	Optic neuropathy	91574	MTRFR	ORPHA:320375
HP:0001138	Optic neuropathy	1181	CLCN2	OMIM:615651
HP:0001138	Optic neuropathy	25828	TXN2	ORPHA:478029
HP:0001138	Optic neuropathy	25828	TXN2	OMIM:616811
HP:0001138	Optic neuropathy	1593	CYP27A1	ORPHA:909
HP:0001138	Optic neuropathy	79639	TMEM53	OMIM:619727
HP:0001138	Optic neuropathy	6709	SPTAN1	OMIM:620538
HP:0001138	Optic neuropathy	189	AGXT	OMIM:259900
HP:0001138	Optic neuropathy	51079	NDUFA13	OMIM:618249
HP:0001138	Optic neuropathy	55717	WDR11	OMIM:620237
HP:0001138	Optic neuropathy	686	BTD	ORPHA:79241
HP:0001138	Optic neuropathy	2202	EFEMP1	ORPHA:98977
HP:0001138	Optic neuropathy	1545	CYP1B1	ORPHA:98977
HP:0001138	Optic neuropathy	4653	MYOC	ORPHA:98977
HP:0001138	Optic neuropathy	4538	MT-ND4	OMIM:535000
HP:0001138	Optic neuropathy	4514	MT-CO3	OMIM:535000
HP:0001138	Optic neuropathy	4519	MT-CYB	OMIM:535000
HP:0001138	Optic neuropathy	4508	MT-ATP6	OMIM:535000
HP:0001138	Optic neuropathy	4540	MT-ND5	OMIM:535000
HP:0001138	Optic neuropathy	4541	MT-ND6	OMIM:535000
HP:0001138	Optic neuropathy	4539	MT-ND4L	OMIM:535000
HP:0001138	Optic neuropathy	2934	GSN	OMIM:105120
HP:0001138	Optic neuropathy	10102	TSFM	OMIM:610505
HP:0001138	Optic neuropathy	2811	GP1BA	OMIM:258660
HP:0001138	Optic neuropathy	4854	NOTCH3	OMIM:125310
HP:0001139	Choroideremia	7439	BEST1	ORPHA:1243
HP:0001139	Choroideremia	7439	BEST1	ORPHA:99000
HP:0001139	Choroideremia	5961	PRPH2	ORPHA:99000
HP:0001139	Choroideremia	50939	IMPG2	ORPHA:99000
HP:0001139	Choroideremia	3617	IMPG1	ORPHA:99000
HP:0001139	Choroideremia	89910	UBE3B	ORPHA:2707
HP:0001139	Choroideremia	1121	CHM	OMIM:303100
HP:0001139	Choroideremia	1121	CHM	ORPHA:180
HP:0001139	Choroideremia	1969	EPHA2	OMIM:116600
HP:0001139	Choroideremia	5456	POU3F4	ORPHA:1435
HP:0430047	Large joint hypermobilty	1311	COMP	ORPHA:750
HP:0430047	Large joint hypermobilty	1311	COMP	ORPHA:93308
HP:0430047	Large joint hypermobilty	4010	LMX1B	ORPHA:2614
HP:0430047	Large joint hypermobilty	2261	FGFR3	ORPHA:15
HP:0430047	Large joint hypermobilty	4210	MEFV	ORPHA:329967
HP:0430047	Large joint hypermobilty	7132	TNFRSF1A	ORPHA:329967
HP:0430047	Large joint hypermobilty	5479	PPIB	OMIM:259440
HP:0430047	Large joint hypermobilty	126792	B3GALT6	OMIM:615349
HP:0430047	Large joint hypermobilty	126792	B3GALT6	OMIM:271640
HP:0430047	Large joint hypermobilty	55033	FKBP14	OMIM:614557
HP:0430046	Small joint hypermobilty	6197	RPS6KA3	OMIM:303600
HP:0430046	Small joint hypermobilty	9791	PTDSS1	OMIM:151050
HP:0430046	Small joint hypermobilty	2245	FGD1	OMIM:305400
HP:0430046	Small joint hypermobilty	9759	HDAC4	OMIM:619797
HP:0430046	Small joint hypermobilty	3756	KCNH1	OMIM:135500
HP:0430046	Small joint hypermobilty	57479	PRR12	OMIM:619539
HP:0430046	Small joint hypermobilty	6611	SMS	OMIM:309583
HP:0430046	Small joint hypermobilty	673	BRAF	OMIM:115150
HP:0430046	Small joint hypermobilty	91461	PKDCC	OMIM:618821
HP:0430046	Small joint hypermobilty	9968	MED12	OMIM:309520
HP:0430046	Small joint hypermobilty	92344	GORAB	OMIM:231070
HP:0430046	Small joint hypermobilty	54499	TMCO1	OMIM:213980
HP:0430046	Small joint hypermobilty	51633	OTUD6B	ORPHA:505237
HP:0430046	Small joint hypermobilty	23114	NFASC	OMIM:618356
HP:0430046	Small joint hypermobilty	7543	ZFX	OMIM:301118
HP:0430046	Small joint hypermobilty	54872	PIGG	ORPHA:488635
HP:0430046	Small joint hypermobilty	427	ASAH1	OMIM:228000
HP:0430046	Small joint hypermobilty	2783	GNB2	OMIM:619503
HP:0430046	Small joint hypermobilty	3265	HRAS	OMIM:218040
HP:0430046	Small joint hypermobilty	2200	FBN1	OMIM:616914
HP:0430046	Small joint hypermobilty	29920	PYCR2	ORPHA:481152
HP:0430046	Small joint hypermobilty	11342	RNF13	ORPHA:544503
HP:0430046	Small joint hypermobilty	1291	COL6A1	OMIM:254090
HP:0430046	Small joint hypermobilty	1291	COL6A1	ORPHA:75840
HP:0430046	Small joint hypermobilty	3373	HYAL1	OMIM:601492
HP:0430046	Small joint hypermobilty	1303	COL12A1	ORPHA:75840
HP:0430046	Small joint hypermobilty	1292	COL6A2	ORPHA:75840
HP:0430046	Small joint hypermobilty	1293	COL6A3	ORPHA:75840
HP:0430046	Small joint hypermobilty	4010	LMX1B	ORPHA:2614
HP:0430046	Small joint hypermobilty	1281	COL3A1	OMIM:130050
HP:0430046	Small joint hypermobilty	22827	PUF60	ORPHA:508498
HP:0430046	Small joint hypermobilty	121340	SP7	OMIM:613849
HP:0430046	Small joint hypermobilty	89970	RSPRY1	ORPHA:457395
HP:0430046	Small joint hypermobilty	23111	SPART	OMIM:275900
HP:0430046	Small joint hypermobilty	6651	SON	ORPHA:500150
HP:0430046	Small joint hypermobilty	8239	USP9X	ORPHA:480880
HP:0430046	Small joint hypermobilty	7528	YY1	ORPHA:506358
HP:0430046	Small joint hypermobilty	7528	YY1	OMIM:617557
HP:0430046	Small joint hypermobilty	54681	P4HTM	OMIM:618493
HP:0430046	Small joint hypermobilty	54681	P4HTM	ORPHA:436141
HP:0430046	Small joint hypermobilty	128674	PROKR2	OMIM:244200
HP:0430046	Small joint hypermobilty	55790	CSGALNACT1	OMIM:618870
HP:0430046	Small joint hypermobilty	22861	NLRP1	OMIM:615225
HP:0430046	Small joint hypermobilty	867	CBL	OMIM:613563
HP:0430046	Small joint hypermobilty	1311	COMP	ORPHA:93308
HP:0430046	Small joint hypermobilty	126792	B3GALT6	OMIM:615349
HP:0430046	Small joint hypermobilty	126792	B3GALT6	OMIM:271640
HP:0430046	Small joint hypermobilty	25782	RAB3GAP2	OMIM:212720
HP:0430046	Small joint hypermobilty	90459	ERI1	OMIM:620663
HP:0430046	Small joint hypermobilty	5479	PPIB	OMIM:259440
HP:0430046	Small joint hypermobilty	1277	COL1A1	OMIM:166200
HP:0430046	Small joint hypermobilty	90952	ESAM	OMIM:620371
HP:0430046	Small joint hypermobilty	1278	COL1A2	ORPHA:230851
HP:0430046	Small joint hypermobilty	9427	ECEL1	OMIM:615065
HP:0430046	Small joint hypermobilty	23261	CAMTA1	OMIM:614756
HP:0430046	Small joint hypermobilty	4297	KMT2A	ORPHA:319182
HP:0430046	Small joint hypermobilty	387733	IFITM5	OMIM:610967
HP:0430046	Small joint hypermobilty	1289	COL5A1	OMIM:130000
HP:0430046	Small joint hypermobilty	1305	COL13A1	OMIM:616720
HP:0430046	Small joint hypermobilty	79912	PYROXD1	OMIM:617258
HP:0430046	Small joint hypermobilty	85365	ALG2	OMIM:616228
HP:0430046	Small joint hypermobilty	78987	CRELD1	OMIM:620771
HP:0430046	Small joint hypermobilty	5351	PLOD1	ORPHA:1900
HP:0430046	Small joint hypermobilty	9373	PLAA	OMIM:617527
HP:0430046	Small joint hypermobilty	55033	FKBP14	OMIM:614557
HP:0430046	Small joint hypermobilty	59341	TRPV4	OMIM:184095
HP:0430046	Small joint hypermobilty	8558	CDK10	OMIM:617694
HP:0430050	Anti-thyroid antibody positivity	100	ADA	ORPHA:277
HP:0430050	Anti-thyroid antibody positivity	139818	DOCK11	OMIM:301109
HP:0430050	Anti-thyroid antibody positivity	51371	POMP	OMIM:618048
HP:0430050	Anti-thyroid antibody positivity	326	AIRE	OMIM:240300
HP:0430050	Anti-thyroid antibody positivity	4791	NFKB2	OMIM:615577
HP:0430050	Anti-thyroid antibody positivity	7253	TSHR	OMIM:609152
HP:0430050	Anti-thyroid antibody positivity	7068	THRB	ORPHA:566243
HP:0430050	Anti-thyroid antibody positivity	7068	THRB	OMIM:274300
HP:0430050	Anti-thyroid antibody positivity	50943	FOXP3	ORPHA:37042
HP:0430050	Anti-thyroid antibody positivity	169792	GLIS3	OMIM:610199
HP:0430050	Anti-thyroid antibody positivity	10125	RASGRP1	OMIM:618534
HP:0430050	Anti-thyroid antibody positivity	9103	FCGR2C	ORPHA:3002
HP:0430050	Anti-thyroid antibody positivity	83737	ITCH	ORPHA:228426
HP:0430050	Anti-thyroid antibody positivity	4067	LYN	OMIM:620376
HP:0430050	Anti-thyroid antibody positivity	29775	CARD10	OMIM:619632
HP:0430050	Anti-thyroid antibody positivity	2304	FOXE1	OMIM:241850
HP:0430048	Intracranial calcification	4558	MT-TF	ORPHA:550
HP:0430048	Intracranial calcification	4572	MT-TQ	ORPHA:550
HP:0430048	Intracranial calcification	4512	MT-CO1	ORPHA:550
HP:0430048	Intracranial calcification	4513	MT-CO2	ORPHA:550
HP:0430048	Intracranial calcification	4514	MT-CO3	ORPHA:550
HP:0430048	Intracranial calcification	4578	MT-TW	ORPHA:550
HP:0430048	Intracranial calcification	4540	MT-ND5	ORPHA:550
HP:0430048	Intracranial calcification	4541	MT-ND6	ORPHA:550
HP:0430048	Intracranial calcification	4535	MT-ND1	ORPHA:550
HP:0430048	Intracranial calcification	4538	MT-ND4	ORPHA:550
HP:0430048	Intracranial calcification	4567	MT-TL1	ORPHA:550
HP:0430048	Intracranial calcification	4574	MT-TS1	ORPHA:550
HP:0430048	Intracranial calcification	4575	MT-TS2	ORPHA:550
HP:0430048	Intracranial calcification	4564	MT-TH	ORPHA:550
HP:0430048	Intracranial calcification	113612	CYP2U1	OMIM:615030
HP:0430048	Intracranial calcification	1161	ERCC8	ORPHA:90324
HP:0430048	Intracranial calcification	1161	ERCC8	ORPHA:90321
HP:0430048	Intracranial calcification	1161	ERCC8	OMIM:216400
HP:0430048	Intracranial calcification	9636	ISG15	OMIM:616126
HP:0430048	Intracranial calcification	79903	NAA60	OMIM:620786
HP:0430048	Intracranial calcification	2072	ERCC4	ORPHA:90321
HP:0430048	Intracranial calcification	5932	RBBP8	OMIM:606744
HP:0430048	Intracranial calcification	2767	GNA11	OMIM:615361
HP:0430048	Intracranial calcification	2625	GATA3	OMIM:146255
HP:0430048	Intracranial calcification	5698	PSMB9	OMIM:620796
HP:0430048	Intracranial calcification	10059	DNM1L	ORPHA:98673
HP:0430048	Intracranial calcification	4976	OPA1	ORPHA:98673
HP:0430048	Intracranial calcification	90	ACVR1	OMIM:135100
HP:0430048	Intracranial calcification	91137	SLC25A46	OMIM:616505
HP:0430048	Intracranial calcification	63901	FAM111A	OMIM:127000
HP:0430048	Intracranial calcification	63901	FAM111A	ORPHA:93325
HP:0430048	Intracranial calcification	56984	PSMG2	OMIM:619183
HP:0430048	Intracranial calcification	846	CASR	OMIM:601198
HP:0430048	Intracranial calcification	23404	EXOSC2	OMIM:617763
HP:0430048	Intracranial calcification	2071	ERCC3	OMIM:610651
HP:0430048	Intracranial calcification	5696	PSMB8	OMIM:256040
HP:0430048	Intracranial calcification	1497	CTNS	OMIM:219800
HP:0430048	Intracranial calcification	26277	TINF2	OMIM:268130
HP:0430048	Intracranial calcification	26277	TINF2	OMIM:613990
HP:0430048	Intracranial calcification	26277	TINF2	ORPHA:3322
HP:0430048	Intracranial calcification	26277	TINF2	ORPHA:1775
HP:0430048	Intracranial calcification	6309	SC5D	ORPHA:46059
HP:0430048	Intracranial calcification	3265	HRAS	ORPHA:2612
HP:0430048	Intracranial calcification	3845	KRAS	ORPHA:2612
HP:0430048	Intracranial calcification	3845	KRAS	ORPHA:2396
HP:0430048	Intracranial calcification	4893	NRAS	ORPHA:2612
HP:0430048	Intracranial calcification	8496	PPFIBP1	OMIM:620024
HP:0430048	Intracranial calcification	113235	SLC46A1	ORPHA:90045
HP:0430048	Intracranial calcification	1436	CSF1R	OMIM:618476
HP:0430048	Intracranial calcification	5649	RELN	ORPHA:89844
HP:0430048	Intracranial calcification	10300	KATNB1	ORPHA:89844
HP:0430048	Intracranial calcification	54820	NDE1	ORPHA:89844
HP:0430048	Intracranial calcification	51741	WWOX	OMIM:616211
HP:0430048	Intracranial calcification	5155	PDGFB	OMIM:615483
HP:0430048	Intracranial calcification	5155	PDGFB	ORPHA:1980
HP:0430048	Intracranial calcification	65082	VPS33A	OMIM:617303
HP:0430048	Intracranial calcification	65082	VPS33A	ORPHA:505248
HP:0430048	Intracranial calcification	5053	PAH	OMIM:261600
HP:0430048	Intracranial calcification	5053	PAH	ORPHA:79254
HP:0430048	Intracranial calcification	55651	NHP2	OMIM:613987
HP:0430048	Intracranial calcification	55651	NHP2	ORPHA:1775
HP:0430048	Intracranial calcification	389827	MYMK	ORPHA:1358
HP:0430048	Intracranial calcification	101929726	MYMX	ORPHA:1358
HP:0430048	Intracranial calcification	56975	FAM20C	OMIM:259775
HP:0430048	Intracranial calcification	79709	COLGALT1	OMIM:618360
HP:0430048	Intracranial calcification	8671	SLC4A4	OMIM:604278
HP:0430048	Intracranial calcification	54	ACP5	OMIM:607944
HP:0430048	Intracranial calcification	54	ACP5	ORPHA:1855
HP:0430048	Intracranial calcification	889	KRIT1	OMIM:116860
HP:0430048	Intracranial calcification	727676	SNORD118	OMIM:614561
HP:0430048	Intracranial calcification	727676	SNORD118	ORPHA:542310
HP:0430048	Intracranial calcification	103	ADAR	OMIM:615010
HP:0430048	Intracranial calcification	103	ADAR	ORPHA:51
HP:0430048	Intracranial calcification	3394	IRF8	OMIM:226990
HP:0430048	Intracranial calcification	11274	USP18	OMIM:617397
HP:0430048	Intracranial calcification	2068	ERCC2	ORPHA:1466
HP:0430048	Intracranial calcification	2067	ERCC1	ORPHA:1466
HP:0430048	Intracranial calcification	2074	ERCC6	ORPHA:1466
HP:0430048	Intracranial calcification	2073	ERCC5	ORPHA:1466
HP:0430048	Intracranial calcification	6573	SLC19A1	OMIM:620603
HP:0430048	Intracranial calcification	6773	STAT2	OMIM:618886
HP:0430048	Intracranial calcification	9213	XPR1	ORPHA:1980
HP:0430048	Intracranial calcification	5159	PDGFRB	ORPHA:1980
HP:0430048	Intracranial calcification	57462	MYORG	ORPHA:1980
HP:0430048	Intracranial calcification	6575	SLC20A2	ORPHA:1980
HP:0430048	Intracranial calcification	58494	JAM2	ORPHA:1980
HP:0430048	Intracranial calcification	2260	FGFR1	ORPHA:2396
HP:0430048	Intracranial calcification	3117	HLA-DQA1	OMIM:212750
HP:0430048	Intracranial calcification	3119	HLA-DQB1	OMIM:212750
HP:0430048	Intracranial calcification	100506658	OCLN	ORPHA:1229
HP:0430048	Intracranial calcification	100506658	OCLN	OMIM:251290
HP:0430048	Intracranial calcification	2697	GJA1	ORPHA:2710
HP:0430048	Intracranial calcification	23258	DENND5A	OMIM:617281
HP:0430048	Intracranial calcification	1301	COL11A1	ORPHA:560
HP:0430048	Intracranial calcification	1280	COL2A1	ORPHA:85198
HP:0430048	Intracranial calcification	8635	RNASET2	OMIM:612951
HP:0430048	Intracranial calcification	139285	AMER1	ORPHA:2780
HP:0430048	Intracranial calcification	4644	MYO5A	ORPHA:79476
HP:0430048	Intracranial calcification	760	CA2	ORPHA:2785
HP:0430048	Intracranial calcification	760	CA2	OMIM:259730
HP:0430048	Intracranial calcification	1499	CTNNB1	ORPHA:54595
HP:0430048	Intracranial calcification	673	BRAF	ORPHA:54595
HP:0430048	Intracranial calcification	1075	CTSC	ORPHA:678
HP:0430048	Intracranial calcification	4953	ODC1	OMIM:619075
HP:0430048	Intracranial calcification	538	ATP7A	ORPHA:198
HP:0430048	Intracranial calcification	5167	ENPP1	ORPHA:51608
HP:0430048	Intracranial calcification	5167	ENPP1	ORPHA:758
HP:0430048	Intracranial calcification	368	ABCC6	ORPHA:51608
HP:0430048	Intracranial calcification	368	ABCC6	ORPHA:758
HP:0430048	Intracranial calcification	8905	AP1S2	ORPHA:85335
HP:0430048	Intracranial calcification	8905	AP1S2	OMIM:304340
HP:0430048	Intracranial calcification	3458	IFNG	OMIM:613254
HP:0430048	Intracranial calcification	7249	TSC2	OMIM:613254
HP:0430048	Intracranial calcification	5189	PEX1	ORPHA:3220
HP:0430048	Intracranial calcification	5190	PEX6	ORPHA:3220
HP:0430048	Intracranial calcification	7305	TYROBP	ORPHA:2770
HP:0430048	Intracranial calcification	54209	TREM2	ORPHA:2770
HP:0430048	Intracranial calcification	10056	FARSB	OMIM:613658
HP:0430048	Intracranial calcification	1836	SLC26A2	ORPHA:628
HP:0430048	Intracranial calcification	2776	GNAQ	ORPHA:624
HP:0430048	Intracranial calcification	2776	GNAQ	ORPHA:3205
HP:0430048	Intracranial calcification	26137	ZBTB20	OMIM:259050
HP:0430048	Intracranial calcification	6628	SNRPB	ORPHA:1393
HP:0430048	Intracranial calcification	100147744	RNU7-1	OMIM:619487
HP:0430048	Intracranial calcification	100147744	RNU7-1	ORPHA:51
HP:0430048	Intracranial calcification	57169	ZNFX1	OMIM:619644
HP:0430048	Intracranial calcification	1605	DAG1	OMIM:616538
HP:0430048	Intracranial calcification	7248	TSC1	OMIM:191100
HP:0430048	Intracranial calcification	6598	SMARCB1	ORPHA:99966
HP:0430048	Intracranial calcification	326	AIRE	ORPHA:3453
HP:0430048	Intracranial calcification	1893	ECM1	ORPHA:530
HP:0430048	Intracranial calcification	5727	PTCH1	ORPHA:377
HP:0430048	Intracranial calcification	8643	PTCH2	ORPHA:377
HP:0430048	Intracranial calcification	51684	SUFU	ORPHA:377
HP:0430048	Intracranial calcification	4256	MGP	OMIM:245150
HP:0430048	Intracranial calcification	9365	KL	OMIM:617994
HP:0430048	Intracranial calcification	351	APP	ORPHA:100006
HP:0430048	Intracranial calcification	5741	PTH	OMIM:146200
HP:0430048	Intracranial calcification	10312	TCIRG1	ORPHA:1782
HP:0430048	Intracranial calcification	55315	SLC29A3	ORPHA:1782
HP:0430048	Intracranial calcification	8792	TNFRSF11A	ORPHA:1782
HP:0430048	Intracranial calcification	25913	POT1	OMIM:620368
HP:0430048	Intracranial calcification	51750	RTEL1	ORPHA:3322
HP:0430048	Intracranial calcification	51750	RTEL1	ORPHA:1775
HP:0430048	Intracranial calcification	65057	ACD	ORPHA:3322
HP:0430048	Intracranial calcification	5073	PARN	ORPHA:3322
HP:0430048	Intracranial calcification	5073	PARN	ORPHA:1775
HP:0430048	Intracranial calcification	7015	TERT	ORPHA:3322
HP:0430048	Intracranial calcification	7015	TERT	ORPHA:1775
HP:0430048	Intracranial calcification	1736	DKC1	ORPHA:3322
HP:0430048	Intracranial calcification	1736	DKC1	ORPHA:1775
HP:0430048	Intracranial calcification	2778	GNAS	ORPHA:79443
HP:0430048	Intracranial calcification	2778	GNAS	ORPHA:79444
HP:0430048	Intracranial calcification	84153	RNASEH2C	OMIM:610329
HP:0430048	Intracranial calcification	84153	RNASEH2C	ORPHA:51
HP:0430048	Intracranial calcification	1376	CPT2	ORPHA:228308
HP:0430048	Intracranial calcification	11277	TREX1	ORPHA:247691
HP:0430048	Intracranial calcification	11277	TREX1	ORPHA:51
HP:0430048	Intracranial calcification	3735	KARS1	OMIM:619147
HP:0430048	Intracranial calcification	5860	QDPR	OMIM:261630
HP:0430048	Intracranial calcification	56160	NSMCE3	OMIM:617241
HP:0430048	Intracranial calcification	80169	CTC1	OMIM:612199
HP:0430048	Intracranial calcification	80169	CTC1	ORPHA:1775
HP:0430048	Intracranial calcification	79650	USB1	ORPHA:1775
HP:0430048	Intracranial calcification	55135	WRAP53	ORPHA:1775
HP:0430048	Intracranial calcification	4869	NPM1	ORPHA:1775
HP:0430048	Intracranial calcification	7012	TERC	ORPHA:1775
HP:0430048	Intracranial calcification	55505	NOP10	ORPHA:1775
HP:0430048	Intracranial calcification	7298	TYMS	ORPHA:1775
HP:0430048	Intracranial calcification	10535	RNASEH2A	OMIM:610333
HP:0430048	Intracranial calcification	10535	RNASEH2A	ORPHA:51
HP:0430048	Intracranial calcification	25939	SAMHD1	ORPHA:51
HP:0430048	Intracranial calcification	79621	RNASEH2B	ORPHA:51
HP:0430048	Intracranial calcification	134353	LSM11	ORPHA:51
HP:0430048	Intracranial calcification	64135	IFIH1	ORPHA:51
HP:0430048	Intracranial calcification	1188	CLCNKB	ORPHA:358
HP:0430048	Intracranial calcification	6559	SLC12A3	ORPHA:358
HP:0430048	Intracranial calcification	8803	SUCLA2	ORPHA:1933
HP:0430048	Intracranial calcification	90952	ESAM	OMIM:620371
HP:0430048	Intracranial calcification	4921	DDR2	OMIM:271665
HP:0430048	Intracranial calcification	57688	ZSWIM6	OMIM:603671
HP:0430048	Intracranial calcification	129607	CMPK2	OMIM:621018
HP:0430048	Intracranial calcification	6513	SLC2A1	OMIM:608885
HP:0430048	Intracranial calcification	6513	SLC2A1	ORPHA:168577
HP:0430030	Positive infectious agent test	3604	TNFRSF9	OMIM:620282
HP:0430030	Positive infectious agent test	84061	MAGT1	OMIM:300853
HP:0430030	Positive infectious agent test	10043	TOM1	OMIM:619510
HP:0430030	Positive infectious agent test	54790	TET2	OMIM:619126
HP:0430030	Positive infectious agent test	939	CD27	OMIM:615122
HP:0430030	Positive infectious agent test	28755	TRAC	OMIM:615387
HP:0430030	Positive infectious agent test	3702	ITK	OMIM:613011
HP:0430030	Positive infectious agent test	50619	DEF6	OMIM:619573
HP:0430030	Positive infectious agent test	27040	LAT	OMIM:617514
HP:0430030	Positive infectious agent test	5295	PIK3R1	OMIM:616005
HP:0430030	Positive infectious agent test	940	CD28	OMIM:620901
HP:0430030	Positive infectious agent test	5580	PRKCD	OMIM:615559
HP:0430030	Positive infectious agent test	22806	IKZF3	OMIM:619437
HP:0430030	Positive infectious agent test	5238	PGM3	OMIM:615816
HP:0430030	Positive infectious agent test	6789	STK4	OMIM:614868
HP:0430030	Positive infectious agent test	1991	ELANE	ORPHA:2686
HP:0430030	Positive infectious agent test	5966	REL	OMIM:619652
HP:0430030	Positive infectious agent test	7174	TPP2	OMIM:619220
HP:0430030	Positive infectious agent test	3560	IL2RB	OMIM:618495
HP:0430030	Positive infectious agent test	1503	CTPS1	OMIM:615897
HP:0430030	Positive infectious agent test	3659	IRF1	OMIM:620668
HP:0001140	Limbal dermoid	2260	FGFR1	OMIM:613001
HP:0001140	Limbal dermoid	3845	KRAS	ORPHA:3339
HP:0001140	Limbal dermoid	3845	KRAS	OMIM:600268
HP:0001140	Limbal dermoid	207	AKT1	OMIM:176920
HP:0001140	Limbal dermoid	5332	PLCB4	OMIM:620458
HP:0001140	Limbal dermoid	5728	PTEN	ORPHA:2969
HP:0001140	Limbal dermoid	6299	SALL1	ORPHA:857
HP:0001140	Limbal dermoid	51339	DACT1	ORPHA:857
HP:0001140	Limbal dermoid	10992	SF3B2	OMIM:164210
HP:0001141	Severely reduced visual acuity	261734	NPHP4	OMIM:606996
HP:0001141	Severely reduced visual acuity	3769	KCNJ13	ORPHA:65
HP:0001141	Severely reduced visual acuity	343035	RD3	ORPHA:65
HP:0001141	Severely reduced visual acuity	145226	RDH12	ORPHA:65
HP:0001141	Severely reduced visual acuity	1406	CRX	ORPHA:65
HP:0001141	Severely reduced visual acuity	64802	NMNAT1	ORPHA:65
HP:0001141	Severely reduced visual acuity	57096	RPGRIP1	ORPHA:65
HP:0001141	Severely reduced visual acuity	57096	RPGRIP1	OMIM:608194
HP:0001141	Severely reduced visual acuity	57096	RPGRIP1	OMIM:613826
HP:0001141	Severely reduced visual acuity	80184	CEP290	ORPHA:65
HP:0001141	Severely reduced visual acuity	10383	TUBB4B	ORPHA:65
HP:0001141	Severely reduced visual acuity	9742	IFT140	ORPHA:65
HP:0001141	Severely reduced visual acuity	85015	USP45	ORPHA:65
HP:0001141	Severely reduced visual acuity	6121	RPE65	ORPHA:65
HP:0001141	Severely reduced visual acuity	6121	RPE65	OMIM:613794
HP:0001141	Severely reduced visual acuity	23418	CRB1	ORPHA:65
HP:0001141	Severely reduced visual acuity	5130	PCYT1A	ORPHA:65
HP:0001141	Severely reduced visual acuity	9657	IQCB1	ORPHA:65
HP:0001141	Severely reduced visual acuity	392255	GDF6	ORPHA:65
HP:0001141	Severely reduced visual acuity	23746	AIPL1	ORPHA:65
HP:0001141	Severely reduced visual acuity	3000	GUCY2D	ORPHA:65
HP:0001141	Severely reduced visual acuity	9227	LRAT	ORPHA:65
HP:0001141	Severely reduced visual acuity	55812	SPATA7	ORPHA:65
HP:0001141	Severely reduced visual acuity	7287	TULP1	ORPHA:65
HP:0001141	Severely reduced visual acuity	167691	LCA5	ORPHA:65
HP:0001141	Severely reduced visual acuity	3614	IMPDH1	ORPHA:65
HP:0001141	Severely reduced visual acuity	4693	NDP	ORPHA:891
HP:0001141	Severely reduced visual acuity	1499	CTNNB1	ORPHA:891
HP:0001141	Severely reduced visual acuity	23554	TSPAN12	ORPHA:891
HP:0001141	Severely reduced visual acuity	4041	LRP5	ORPHA:891
HP:0001141	Severely reduced visual acuity	4041	LRP5	ORPHA:2788
HP:0001141	Severely reduced visual acuity	79797	ZNF408	ORPHA:891
HP:0001141	Severely reduced visual acuity	8322	FZD4	ORPHA:891
HP:0001141	Severely reduced visual acuity	285440	CYP4V2	ORPHA:41751
HP:0001141	Severely reduced visual acuity	4166	CHST6	ORPHA:98969
HP:0001141	Severely reduced visual acuity	3257	HPS1	OMIM:203300
HP:0001141	Severely reduced visual acuity	130557	ZNF513	OMIM:613617
HP:0001141	Severely reduced visual acuity	28962	OSTM1	OMIM:259720
HP:0001141	Severely reduced visual acuity	4810	NHS	OMIM:302200
HP:0001141	Severely reduced visual acuity	10195	ALG3	OMIM:601110
HP:0001141	Severely reduced visual acuity	54714	CNGB3	OMIM:262300
HP:0001141	Severely reduced visual acuity	27316	RBMX	OMIM:309555
HP:0001141	Severely reduced visual acuity	114902	C1QTNF5	ORPHA:67042
HP:0001141	Severely reduced visual acuity	8481	OFD1	OMIM:300424
HP:0001141	Severely reduced visual acuity	778	CACNA1F	OMIM:300600
HP:0001141	Severely reduced visual acuity	6809	STX3	OMIM:619446
HP:0001141	Severely reduced visual acuity	8842	PROM1	OMIM:612095
HP:0001141	Severely reduced visual acuity	7466	WFS1	OMIM:614296
HP:0001141	Severely reduced visual acuity	7078	TIMP3	ORPHA:59181
HP:0001142	Lenticonus	1410	CRYAB	OMIM:613763
HP:0001142	Lenticonus	5961	PRPH2	ORPHA:52427
HP:0001142	Lenticonus	6017	RLBP1	ORPHA:52427
HP:0001142	Lenticonus	6010	RHO	ORPHA:52427
HP:0001142	Lenticonus	5959	RDH5	ORPHA:52427
HP:0001142	Lenticonus	1285	COL4A3	OMIM:104200
HP:0001142	Lenticonus	1287	COL4A5	OMIM:301050
HP:0001142	Lenticonus	1286	COL4A4	OMIM:203780
HP:0001142	Lenticonus	1288	COL4A6	ORPHA:1018
HP:0001142	Lenticonus	3913	LAMB2	OMIM:609049
HP:0007633	Bilateral microphthalmos	5727	PTCH1	OMIM:610828
HP:0007633	Bilateral microphthalmos	22827	PUF60	ORPHA:508488
HP:0007633	Bilateral microphthalmos	9896	FIG4	ORPHA:3472
HP:0007633	Bilateral microphthalmos	55697	VAC14	ORPHA:3472
HP:0007633	Bilateral microphthalmos	6949	TCOF1	OMIM:154500
HP:0007633	Bilateral microphthalmos	5080	PAX6	ORPHA:2334
HP:0007633	Bilateral microphthalmos	6650	CAPN15	OMIM:619318
HP:0007633	Bilateral microphthalmos	392255	GDF6	OMIM:613703
HP:0007633	Bilateral microphthalmos	9573	GDF3	OMIM:613703
HP:0007633	Bilateral microphthalmos	404672	GTF2H5	ORPHA:33364
HP:0007633	Bilateral microphthalmos	833	CARS1	ORPHA:33364
HP:0007633	Bilateral microphthalmos	2068	ERCC2	ORPHA:33364
HP:0007633	Bilateral microphthalmos	7737	RNF113A	ORPHA:33364
HP:0007633	Bilateral microphthalmos	136647	MPLKIP	ORPHA:33364
HP:0007633	Bilateral microphthalmos	6897	TARS1	ORPHA:33364
HP:0007633	Bilateral microphthalmos	16	AARS1	ORPHA:33364
HP:0007633	Bilateral microphthalmos	2071	ERCC3	ORPHA:33364
HP:0007633	Bilateral microphthalmos	2961	GTF2E2	ORPHA:33364
HP:0007633	Bilateral microphthalmos	25914	RTTN	ORPHA:468631
HP:0007633	Bilateral microphthalmos	23389	MED13L	ORPHA:369891
HP:0007633	Bilateral microphthalmos	2067	ERCC1	OMIM:610758
HP:0007633	Bilateral microphthalmos	80144	FRAS1	OMIM:219000
HP:0007633	Bilateral microphthalmos	63901	FAM111A	ORPHA:93325
HP:0007633	Bilateral microphthalmos	64220	STRA6	OMIM:601186
HP:0007633	Bilateral microphthalmos	6469	SHH	OMIM:611638
HP:0001144	Orbital cyst	652	BMP4	OMIM:607932
HP:0001144	Orbital cyst	5076	PAX2	OMIM:120330
HP:0001144	Orbital cyst	5727	PTCH1	OMIM:109400
HP:0001144	Orbital cyst	5075	PAX1	OMIM:615560
HP:0000532	Abnormal chorioretinal morphology	8517	IKBKG	ORPHA:464
HP:0000532	Abnormal chorioretinal morphology	3030	HADHA	ORPHA:5
HP:0000532	Abnormal chorioretinal morphology	3105	HLA-A	ORPHA:179
HP:0000532	Abnormal chorioretinal morphology	84314	TMEM107	ORPHA:564
HP:0000532	Abnormal chorioretinal morphology	26123	TCTN3	ORPHA:564
HP:0000532	Abnormal chorioretinal morphology	79867	TCTN2	ORPHA:564
HP:0000532	Abnormal chorioretinal morphology	80776	B9D2	ORPHA:564
HP:0000532	Abnormal chorioretinal morphology	79600	TCTN1	ORPHA:564
HP:0000532	Abnormal chorioretinal morphology	57096	RPGRIP1	ORPHA:564
HP:0000532	Abnormal chorioretinal morphology	79848	CSPP1	ORPHA:564
HP:0000532	Abnormal chorioretinal morphology	80184	CEP290	ORPHA:564
HP:0000532	Abnormal chorioretinal morphology	51259	TMEM216	ORPHA:564
HP:0000532	Abnormal chorioretinal morphology	57545	CC2D2A	ORPHA:564
HP:0000532	Abnormal chorioretinal morphology	79583	TMEM231	ORPHA:564
HP:0000532	Abnormal chorioretinal morphology	91147	TMEM67	ORPHA:564
HP:0000532	Abnormal chorioretinal morphology	79770	TXNDC15	ORPHA:564
HP:0000532	Abnormal chorioretinal morphology	27077	B9D1	ORPHA:564
HP:0000532	Abnormal chorioretinal morphology	23322	RPGRIP1L	ORPHA:564
HP:0000532	Abnormal chorioretinal morphology	54903	MKS1	ORPHA:564
HP:0000532	Abnormal chorioretinal morphology	65062	TMEM237	ORPHA:564
HP:0000532	Abnormal chorioretinal morphology	55670	PEX26	ORPHA:912
HP:0000532	Abnormal chorioretinal morphology	5824	PEX19	ORPHA:912
HP:0000532	Abnormal chorioretinal morphology	5828	PEX2	ORPHA:912
HP:0000532	Abnormal chorioretinal morphology	8504	PEX3	ORPHA:912
HP:0000532	Abnormal chorioretinal morphology	8799	PEX11B	ORPHA:912
HP:0000532	Abnormal chorioretinal morphology	9409	PEX16	ORPHA:912
HP:0000532	Abnormal chorioretinal morphology	5190	PEX6	ORPHA:912
HP:0000532	Abnormal chorioretinal morphology	5830	PEX5	ORPHA:912
HP:0000532	Abnormal chorioretinal morphology	5189	PEX1	ORPHA:912
HP:0000532	Abnormal chorioretinal morphology	5193	PEX12	ORPHA:912
HP:0000532	Abnormal chorioretinal morphology	5194	PEX13	ORPHA:912
HP:0000532	Abnormal chorioretinal morphology	5195	PEX14	ORPHA:912
HP:0000532	Abnormal chorioretinal morphology	5192	PEX10	ORPHA:912
HP:0000532	Abnormal chorioretinal morphology	4693	NDP	ORPHA:649
HP:0000532	Abnormal chorioretinal morphology	5456	POU3F4	ORPHA:1435
HP:0000532	Abnormal chorioretinal morphology	346007	EYS	OMIM:602772
HP:0000532	Abnormal chorioretinal morphology	1499	CTNNB1	ORPHA:891
HP:0000532	Abnormal chorioretinal morphology	23554	TSPAN12	ORPHA:891
HP:0000532	Abnormal chorioretinal morphology	4041	LRP5	ORPHA:891
HP:0000532	Abnormal chorioretinal morphology	79797	ZNF408	ORPHA:891
HP:0000532	Abnormal chorioretinal morphology	79797	ZNF408	OMIM:616468
HP:0000532	Abnormal chorioretinal morphology	8322	FZD4	ORPHA:891
HP:0000532	Abnormal chorioretinal morphology	25794	FSCN2	OMIM:607921
HP:0000532	Abnormal chorioretinal morphology	1181	CLCN2	OMIM:615651
HP:0000532	Abnormal chorioretinal morphology	4901	NRL	OMIM:613750
HP:0000532	Abnormal chorioretinal morphology	54820	NDE1	ORPHA:2177
HP:0000532	Abnormal chorioretinal morphology	23418	CRB1	OMIM:613835
HP:0000532	Abnormal chorioretinal morphology	6295	SAG	OMIM:613758
HP:0000532	Abnormal chorioretinal morphology	3000	GUCY2D	OMIM:215500
HP:0000532	Abnormal chorioretinal morphology	3000	GUCY2D	OMIM:601777
HP:0000532	Abnormal chorioretinal morphology	3000	GUCY2D	ORPHA:75377
HP:0000532	Abnormal chorioretinal morphology	1406	CRX	OMIM:120970
HP:0000532	Abnormal chorioretinal morphology	6094	ROM1	OMIM:608133
HP:0000532	Abnormal chorioretinal morphology	5961	PRPH2	OMIM:608133
HP:0000532	Abnormal chorioretinal morphology	5961	PRPH2	OMIM:613105
HP:0000532	Abnormal chorioretinal morphology	5961	PRPH2	ORPHA:75377
HP:0000532	Abnormal chorioretinal morphology	5076	PAX2	OMIM:120330
HP:0000532	Abnormal chorioretinal morphology	80781	COL18A1	OMIM:267750
HP:0000532	Abnormal chorioretinal morphology	9227	LRAT	ORPHA:364055
HP:0000532	Abnormal chorioretinal morphology	55812	SPATA7	ORPHA:364055
HP:0000532	Abnormal chorioretinal morphology	6121	RPE65	ORPHA:364055
HP:0000532	Abnormal chorioretinal morphology	6121	RPE65	OMIM:618697
HP:0000532	Abnormal chorioretinal morphology	167691	LCA5	ORPHA:364055
HP:0000532	Abnormal chorioretinal morphology	3845	KRAS	OMIM:600268
HP:0000532	Abnormal chorioretinal morphology	100147744	RNU7-1	OMIM:619487
HP:0000532	Abnormal chorioretinal morphology	7078	TIMP3	OMIM:136900
HP:0000532	Abnormal chorioretinal morphology	7078	TIMP3	ORPHA:59181
HP:0000532	Abnormal chorioretinal morphology	182	JAG1	OMIM:118450
HP:0000532	Abnormal chorioretinal morphology	1462	VCAN	OMIM:143200
HP:0000532	Abnormal chorioretinal morphology	2978	GUCA1A	ORPHA:75377
HP:0000532	Abnormal chorioretinal morphology	60	ACTB	OMIM:243310
HP:0000532	Abnormal chorioretinal morphology	57167	SALL4	ORPHA:233
HP:0000532	Abnormal chorioretinal morphology	57167	SALL4	ORPHA:959
HP:0000532	Abnormal chorioretinal morphology	9935	MAFB	ORPHA:233
HP:0000532	Abnormal chorioretinal morphology	1123	CHN1	ORPHA:233
HP:0000532	Abnormal chorioretinal morphology	64840	PORCN	OMIM:305600
HP:0000532	Abnormal chorioretinal morphology	64840	PORCN	ORPHA:2092
HP:0000532	Abnormal chorioretinal morphology	54880	BCOR	OMIM:309800
HP:0000532	Abnormal chorioretinal morphology	54880	BCOR	ORPHA:568
HP:0000532	Abnormal chorioretinal morphology	8260	NAA10	OMIM:309800
HP:0000532	Abnormal chorioretinal morphology	8260	NAA10	ORPHA:568
HP:0000532	Abnormal chorioretinal morphology	6711	SPTBN1	OMIM:619475
HP:0000532	Abnormal chorioretinal morphology	56623	INPP5E	OMIM:213300
HP:0000532	Abnormal chorioretinal morphology	56623	INPP5E	ORPHA:1454
HP:0000532	Abnormal chorioretinal morphology	10413	YAP1	OMIM:120433
HP:0000532	Abnormal chorioretinal morphology	10413	YAP1	ORPHA:1473
HP:0000532	Abnormal chorioretinal morphology	9839	ZEB2	OMIM:235730
HP:0000532	Abnormal chorioretinal morphology	6469	SHH	OMIM:611638
HP:0000532	Abnormal chorioretinal morphology	207	AKT1	ORPHA:744
HP:0000532	Abnormal chorioretinal morphology	79759	ZNF668	OMIM:620194
HP:0000532	Abnormal chorioretinal morphology	6299	SALL1	OMIM:107480
HP:0000532	Abnormal chorioretinal morphology	6299	SALL1	ORPHA:857
HP:0000532	Abnormal chorioretinal morphology	64412	GZF1	OMIM:617662
HP:0000532	Abnormal chorioretinal morphology	3149	HMGB3	OMIM:300915
HP:0000532	Abnormal chorioretinal morphology	4149	MAX	OMIM:620712
HP:0000532	Abnormal chorioretinal morphology	51339	DACT1	ORPHA:857
HP:0000532	Abnormal chorioretinal morphology	9573	GDF3	OMIM:613702
HP:0000532	Abnormal chorioretinal morphology	5080	PAX6	OMIM:120200
HP:0000532	Abnormal chorioretinal morphology	55636	CHD7	ORPHA:138
HP:0000532	Abnormal chorioretinal morphology	9723	SEMA3E	ORPHA:138
HP:0000532	Abnormal chorioretinal morphology	113246	C12orf57	OMIM:218340
HP:0000532	Abnormal chorioretinal morphology	51322	WAC	ORPHA:284169
HP:0000532	Abnormal chorioretinal morphology	473	RERE	ORPHA:494344
HP:0000532	Abnormal chorioretinal morphology	652	BMP4	ORPHA:139471
HP:0000532	Abnormal chorioretinal morphology	57020	VPS35L	OMIM:619135
HP:0000532	Abnormal chorioretinal morphology	57020	VPS35L	ORPHA:7
HP:0000532	Abnormal chorioretinal morphology	149461	CLDN19	ORPHA:2196
HP:0000532	Abnormal chorioretinal morphology	55733	HHAT	ORPHA:1422
HP:0000532	Abnormal chorioretinal morphology	9487	PIGL	OMIM:280000
HP:0000532	Abnormal chorioretinal morphology	8777	MPDZ	OMIM:615219
HP:0000532	Abnormal chorioretinal morphology	5950	RBP4	OMIM:616428
HP:0000532	Abnormal chorioretinal morphology	4990	SIX6	OMIM:212550
HP:0000532	Abnormal chorioretinal morphology	3166	HMX1	OMIM:612109
HP:0000532	Abnormal chorioretinal morphology	51524	TMEM138	ORPHA:2318
HP:0000532	Abnormal chorioretinal morphology	23090	ZNF423	ORPHA:2318
HP:0000532	Abnormal chorioretinal morphology	6496	SIX3	OMIM:157170
HP:0000532	Abnormal chorioretinal morphology	50945	TBX22	ORPHA:921
HP:0000532	Abnormal chorioretinal morphology	9897	WASHC5	ORPHA:7
HP:0000532	Abnormal chorioretinal morphology	28952	CCDC22	ORPHA:7
HP:0000532	Abnormal chorioretinal morphology	56896	DPYSL5	ORPHA:7
HP:0000532	Abnormal chorioretinal morphology	7855	FZD5	OMIM:620731
HP:0000532	Abnormal chorioretinal morphology	10908	PNPLA6	OMIM:215470
HP:0000532	Abnormal chorioretinal morphology	10908	PNPLA6	ORPHA:1180
HP:0000532	Abnormal chorioretinal morphology	89910	UBE3B	ORPHA:2707
HP:0000532	Abnormal chorioretinal morphology	157680	VPS13B	ORPHA:193
HP:0000532	Abnormal chorioretinal morphology	157680	VPS13B	OMIM:216550
HP:0000532	Abnormal chorioretinal morphology	7439	BEST1	OMIM:193220
HP:0000532	Abnormal chorioretinal morphology	85378	TUBGCP6	OMIM:251270
HP:0000532	Abnormal chorioretinal morphology	27229	TUBGCP4	OMIM:616335
HP:0000532	Abnormal chorioretinal morphology	3832	KIF11	ORPHA:2526
HP:0000532	Abnormal chorioretinal morphology	3832	KIF11	OMIM:152950
HP:0000532	Abnormal chorioretinal morphology	4952	OCRL	ORPHA:534
HP:0000532	Abnormal chorioretinal morphology	84892	POMGNT2	ORPHA:899
HP:0000532	Abnormal chorioretinal morphology	148789	B3GALNT2	ORPHA:899
HP:0000532	Abnormal chorioretinal morphology	79147	FKRP	ORPHA:899
HP:0000532	Abnormal chorioretinal morphology	29954	POMT2	ORPHA:899
HP:0000532	Abnormal chorioretinal morphology	9215	LARGE1	ORPHA:899
HP:0000532	Abnormal chorioretinal morphology	1282	COL4A1	ORPHA:899
HP:0000532	Abnormal chorioretinal morphology	729920	CRPPA	ORPHA:899
HP:0000532	Abnormal chorioretinal morphology	10329	RXYLT1	ORPHA:899
HP:0000532	Abnormal chorioretinal morphology	1605	DAG1	ORPHA:899
HP:0000532	Abnormal chorioretinal morphology	11041	B4GAT1	ORPHA:899
HP:0000532	Abnormal chorioretinal morphology	10585	POMT1	ORPHA:899
HP:0000532	Abnormal chorioretinal morphology	84197	POMK	ORPHA:899
HP:0000532	Abnormal chorioretinal morphology	2218	FKTN	ORPHA:899
HP:0000532	Abnormal chorioretinal morphology	55624	POMGNT1	ORPHA:899
HP:0000532	Abnormal chorioretinal morphology	54539	NDUFB11	ORPHA:2556
HP:0000532	Abnormal chorioretinal morphology	1349	COX7B	ORPHA:2556
HP:0000532	Abnormal chorioretinal morphology	3052	HCCS	ORPHA:2556
HP:0000532	Abnormal chorioretinal morphology	8449	DHX16	OMIM:618733
HP:0000532	Abnormal chorioretinal morphology	2202	EFEMP1	ORPHA:75376
HP:0000532	Abnormal chorioretinal morphology	3075	CFH	ORPHA:75376
HP:0000532	Abnormal chorioretinal morphology	3426	CFI	ORPHA:75376
HP:0000532	Abnormal chorioretinal morphology	7003	TEAD1	OMIM:108985
HP:0000532	Abnormal chorioretinal morphology	3123	HLA-DRB1	OMIM:181000
HP:0000532	Abnormal chorioretinal morphology	94	ACVRL1	OMIM:600376
HP:0000532	Abnormal chorioretinal morphology	1001	CDH3	OMIM:601553
HP:0000532	Abnormal chorioretinal morphology	10058	ABCB6	OMIM:614497
HP:0000532	Abnormal chorioretinal morphology	355	FAS	ORPHA:3437
HP:0000532	Abnormal chorioretinal morphology	26191	PTPN22	ORPHA:3437
HP:0000532	Abnormal chorioretinal morphology	65082	VPS33A	OMIM:617303
HP:0000532	Abnormal chorioretinal morphology	6492	SIM1	ORPHA:398079
HP:0000532	Abnormal chorioretinal morphology	54551	MAGEL2	ORPHA:398069
HP:0000532	Abnormal chorioretinal morphology	3458	IFNG	ORPHA:805
HP:0000532	Abnormal chorioretinal morphology	7248	TSC1	ORPHA:805
HP:0000532	Abnormal chorioretinal morphology	7249	TSC2	ORPHA:805
HP:0000532	Abnormal chorioretinal morphology	7490	WT1	OMIM:106210
HP:0000532	Abnormal chorioretinal morphology	1638	DCT	OMIM:619165
HP:0000532	Abnormal chorioretinal morphology	10166	SLC25A15	ORPHA:415
HP:0000532	Abnormal chorioretinal morphology	125988	MICOS13	OMIM:618329
HP:0000532	Abnormal chorioretinal morphology	1121	CHM	OMIM:303100
HP:0000532	Abnormal chorioretinal morphology	1804	DPP6	OMIM:616311
HP:0000532	Abnormal chorioretinal morphology	1297	COL9A1	OMIM:614134
HP:0000532	Abnormal chorioretinal morphology	285440	CYP4V2	ORPHA:41751
HP:0000532	Abnormal chorioretinal morphology	170692	ADAMTS18	OMIM:615458
HP:0000532	Abnormal chorioretinal morphology	6102	RP2	OMIM:312600
HP:0000532	Abnormal chorioretinal morphology	6935	ZEB1	ORPHA:98973
HP:0000532	Abnormal chorioretinal morphology	30813	VSX1	ORPHA:98973
HP:0000532	Abnormal chorioretinal morphology	58495	OVOL2	ORPHA:98973
HP:0000532	Abnormal chorioretinal morphology	79977	GRHL2	ORPHA:98973
HP:0000532	Abnormal chorioretinal morphology	1296	COL8A2	ORPHA:98973
HP:0000532	Abnormal chorioretinal morphology	114902	C1QTNF5	OMIM:605670
HP:0000532	Abnormal chorioretinal morphology	4942	OAT	ORPHA:414
HP:0000580	Pigmentary retinopathy	2074	ERCC6	OMIM:133540
HP:0000580	Pigmentary retinopathy	2074	ERCC6	ORPHA:90321
HP:0000580	Pigmentary retinopathy	1497	CTNS	OMIM:219800
HP:0000580	Pigmentary retinopathy	1497	CTNS	ORPHA:411629
HP:0000580	Pigmentary retinopathy	4558	MT-TF	ORPHA:550
HP:0000580	Pigmentary retinopathy	4572	MT-TQ	ORPHA:550
HP:0000580	Pigmentary retinopathy	4512	MT-CO1	ORPHA:550
HP:0000580	Pigmentary retinopathy	4513	MT-CO2	ORPHA:550
HP:0000580	Pigmentary retinopathy	4514	MT-CO3	ORPHA:550
HP:0000580	Pigmentary retinopathy	4578	MT-TW	ORPHA:550
HP:0000580	Pigmentary retinopathy	4578	MT-TW	ORPHA:255210
HP:0000580	Pigmentary retinopathy	4540	MT-ND5	ORPHA:550
HP:0000580	Pigmentary retinopathy	4540	MT-ND5	ORPHA:255210
HP:0000580	Pigmentary retinopathy	4541	MT-ND6	ORPHA:550
HP:0000580	Pigmentary retinopathy	4541	MT-ND6	ORPHA:255210
HP:0000580	Pigmentary retinopathy	4535	MT-ND1	ORPHA:550
HP:0000580	Pigmentary retinopathy	4535	MT-ND1	ORPHA:255210
HP:0000580	Pigmentary retinopathy	4538	MT-ND4	ORPHA:550
HP:0000580	Pigmentary retinopathy	4538	MT-ND4	ORPHA:255210
HP:0000580	Pigmentary retinopathy	4567	MT-TL1	ORPHA:550
HP:0000580	Pigmentary retinopathy	4567	MT-TL1	ORPHA:255210
HP:0000580	Pigmentary retinopathy	4567	MT-TL1	ORPHA:480
HP:0000580	Pigmentary retinopathy	4574	MT-TS1	ORPHA:550
HP:0000580	Pigmentary retinopathy	4574	MT-TS1	OMIM:220110
HP:0000580	Pigmentary retinopathy	4575	MT-TS2	ORPHA:550
HP:0000580	Pigmentary retinopathy	4564	MT-TH	ORPHA:550
HP:0000580	Pigmentary retinopathy	1121	CHM	OMIM:303100
HP:0000580	Pigmentary retinopathy	54892	NCAPG2	OMIM:618460
HP:0000580	Pigmentary retinopathy	4570	MT-TN	OMIM:220110
HP:0000580	Pigmentary retinopathy	6834	SURF1	OMIM:220110
HP:0000580	Pigmentary retinopathy	583	BBS2	OMIM:616562
HP:0000580	Pigmentary retinopathy	50484	RRM2B	ORPHA:329336
HP:0000580	Pigmentary retinopathy	50484	RRM2B	ORPHA:480
HP:0000580	Pigmentary retinopathy	246243	RNASEH1	ORPHA:329336
HP:0000580	Pigmentary retinopathy	6010	RHO	OMIM:613731
HP:0000580	Pigmentary retinopathy	6010	RHO	ORPHA:52427
HP:0000580	Pigmentary retinopathy	84334	COA8	ORPHA:436271
HP:0000580	Pigmentary retinopathy	23600	AMACR	OMIM:614307
HP:0000580	Pigmentary retinopathy	23600	AMACR	ORPHA:79095
HP:0000580	Pigmentary retinopathy	5830	PEX5	OMIM:214110
HP:0000580	Pigmentary retinopathy	6094	ROM1	OMIM:608133
HP:0000580	Pigmentary retinopathy	5961	PRPH2	OMIM:608133
HP:0000580	Pigmentary retinopathy	5961	PRPH2	ORPHA:52427
HP:0000580	Pigmentary retinopathy	1161	ERCC8	ORPHA:90321
HP:0000580	Pigmentary retinopathy	1161	ERCC8	OMIM:216400
HP:0000580	Pigmentary retinopathy	2072	ERCC4	ORPHA:90321
HP:0000580	Pigmentary retinopathy	4536	MT-ND2	ORPHA:255210
HP:0000580	Pigmentary retinopathy	4537	MT-ND3	ORPHA:255210
HP:0000580	Pigmentary retinopathy	4577	MT-TV	ORPHA:255210
HP:0000580	Pigmentary retinopathy	4508	MT-ATP6	ORPHA:255210
HP:0000580	Pigmentary retinopathy	4566	MT-TK	ORPHA:255210
HP:0000580	Pigmentary retinopathy	6017	RLBP1	ORPHA:85128
HP:0000580	Pigmentary retinopathy	6017	RLBP1	ORPHA:52427
HP:0000580	Pigmentary retinopathy	51103	NDUFAF1	OMIM:618234
HP:0000580	Pigmentary retinopathy	100151683	RNU4ATAC	OMIM:226960
HP:0000580	Pigmentary retinopathy	50939	IMPG2	OMIM:613581
HP:0000580	Pigmentary retinopathy	8842	PROM1	OMIM:612095
HP:0000580	Pigmentary retinopathy	10908	PNPLA6	OMIM:275400
HP:0000580	Pigmentary retinopathy	10908	PNPLA6	ORPHA:3363
HP:0000580	Pigmentary retinopathy	10908	PNPLA6	OMIM:245800
HP:0000580	Pigmentary retinopathy	55768	NGLY1	ORPHA:404454
HP:0000580	Pigmentary retinopathy	5189	PEX1	OMIM:214100
HP:0000580	Pigmentary retinopathy	6314	ATXN7	OMIM:164500
HP:0000580	Pigmentary retinopathy	29925	GMPPB	ORPHA:370968
HP:0000580	Pigmentary retinopathy	79147	FKRP	ORPHA:370968
HP:0000580	Pigmentary retinopathy	29954	POMT2	ORPHA:370968
HP:0000580	Pigmentary retinopathy	29954	POMT2	OMIM:613156
HP:0000580	Pigmentary retinopathy	9215	LARGE1	ORPHA:370968
HP:0000580	Pigmentary retinopathy	9215	LARGE1	OMIM:613154
HP:0000580	Pigmentary retinopathy	10585	POMT1	ORPHA:370968
HP:0000580	Pigmentary retinopathy	28982	FLVCR1	ORPHA:88628
HP:0000580	Pigmentary retinopathy	28982	FLVCR1	OMIM:609033
HP:0000580	Pigmentary retinopathy	1351	COX8A	OMIM:619059
HP:0000580	Pigmentary retinopathy	55154	MSTO1	OMIM:617675
HP:0000580	Pigmentary retinopathy	55154	MSTO1	ORPHA:502423
HP:0000580	Pigmentary retinopathy	4358	MPV17	OMIM:256810
HP:0000580	Pigmentary retinopathy	80201	HKDC1	OMIM:619614
HP:0000580	Pigmentary retinopathy	6295	SAG	OMIM:613758
HP:0000580	Pigmentary retinopathy	3000	GUCY2D	OMIM:215500
HP:0000580	Pigmentary retinopathy	3000	GUCY2D	OMIM:204000
HP:0000580	Pigmentary retinopathy	7840	ALMS1	OMIM:203800
HP:0000580	Pigmentary retinopathy	6102	RP2	OMIM:312600
HP:0000580	Pigmentary retinopathy	157680	VPS13B	OMIM:216550
HP:0000580	Pigmentary retinopathy	54806	AHI1	OMIM:608629
HP:0000580	Pigmentary retinopathy	80324	PUS1	OMIM:600462
HP:0000580	Pigmentary retinopathy	10002	NR2E3	OMIM:268100
HP:0000580	Pigmentary retinopathy	10002	NR2E3	OMIM:611131
HP:0000580	Pigmentary retinopathy	7274	TTPA	ORPHA:96
HP:0000580	Pigmentary retinopathy	7466	WFS1	OMIM:222300
HP:0000580	Pigmentary retinopathy	857	CAV1	OMIM:606721
HP:0000580	Pigmentary retinopathy	51102	MECR	OMIM:617282
HP:0000580	Pigmentary retinopathy	55857	KIZ	OMIM:615780
HP:0000580	Pigmentary retinopathy	4591	TRIM37	OMIM:253250
HP:0000580	Pigmentary retinopathy	2071	ERCC3	OMIM:610651
HP:0000580	Pigmentary retinopathy	8195	MKKS	OMIM:605231
HP:0000580	Pigmentary retinopathy	54539	NDUFB11	OMIM:309801
HP:0000580	Pigmentary retinopathy	1349	COX7B	OMIM:309801
HP:0000580	Pigmentary retinopathy	3052	HCCS	OMIM:309801
HP:0000580	Pigmentary retinopathy	100996717	NOTCH2NLC	OMIM:619473
HP:0000580	Pigmentary retinopathy	81689	ISCA1	OMIM:617613
HP:0000580	Pigmentary retinopathy	285440	CYP4V2	ORPHA:41751
HP:0000580	Pigmentary retinopathy	5828	PEX2	OMIM:614866
HP:0000580	Pigmentary retinopathy	5145	PDE6A	OMIM:613810
HP:0000580	Pigmentary retinopathy	3032	HADHB	ORPHA:746
HP:0000580	Pigmentary retinopathy	3030	HADHA	ORPHA:746
HP:0000580	Pigmentary retinopathy	3030	HADHA	OMIM:609015
HP:0000580	Pigmentary retinopathy	3030	HADHA	OMIM:609016
HP:0000580	Pigmentary retinopathy	9094	UNC119	OMIM:620342
HP:0000580	Pigmentary retinopathy	80025	PANK2	OMIM:234200
HP:0000580	Pigmentary retinopathy	80025	PANK2	ORPHA:216866
HP:0000580	Pigmentary retinopathy	5959	RDH5	ORPHA:52427
HP:0000580	Pigmentary retinopathy	200894	ARL13B	OMIM:612291
HP:0000580	Pigmentary retinopathy	3913	LAMB2	OMIM:614199
HP:0000580	Pigmentary retinopathy	3420	IDH3B	OMIM:612572
HP:0000580	Pigmentary retinopathy	6121	RPE65	OMIM:204100
HP:0000580	Pigmentary retinopathy	6121	RPE65	OMIM:618697
HP:0000580	Pigmentary retinopathy	182	JAG1	OMIM:118450
HP:0000580	Pigmentary retinopathy	7078	TIMP3	ORPHA:59181
HP:0000580	Pigmentary retinopathy	256471	MFSD8	OMIM:610951
HP:0000580	Pigmentary retinopathy	3033	HADH	ORPHA:71212
HP:0000580	Pigmentary retinopathy	11128	POLR3A	ORPHA:3455
HP:0000580	Pigmentary retinopathy	9968	MED12	OMIM:301068
HP:0000580	Pigmentary retinopathy	51	ACOX1	OMIM:264470
HP:0000580	Pigmentary retinopathy	22880	MORC2	OMIM:619090
HP:0000580	Pigmentary retinopathy	2937	GSS	OMIM:266130
HP:0000580	Pigmentary retinopathy	24	ABCA4	OMIM:604116
HP:0000580	Pigmentary retinopathy	326	AIRE	OMIM:240300
HP:0000580	Pigmentary retinopathy	6389	SDHA	ORPHA:3208
HP:0000580	Pigmentary retinopathy	6389	SDHA	OMIM:252011
HP:0000580	Pigmentary retinopathy	6390	SDHB	ORPHA:3208
HP:0000580	Pigmentary retinopathy	6392	SDHD	ORPHA:3208
HP:0000580	Pigmentary retinopathy	644096	SDHAF1	ORPHA:3208
HP:0000580	Pigmentary retinopathy	25974	MMACHC	ORPHA:79282
HP:0000580	Pigmentary retinopathy	25974	MMACHC	OMIM:277400
HP:0000580	Pigmentary retinopathy	9187	SLC24A1	OMIM:613830
HP:0000580	Pigmentary retinopathy	23418	CRB1	OMIM:613835
HP:0000580	Pigmentary retinopathy	84100	ARL6	OMIM:600151
HP:0000580	Pigmentary retinopathy	23155	CLCC1	OMIM:609913
HP:0000580	Pigmentary retinopathy	54903	MKS1	OMIM:617121
HP:0000580	Pigmentary retinopathy	4509	MT-ATP8	ORPHA:480
HP:0000580	Pigmentary retinopathy	23503	ZFYVE26	ORPHA:100996
HP:0000580	Pigmentary retinopathy	7439	BEST1	OMIM:193220
HP:0000580	Pigmentary retinopathy	7287	TULP1	OMIM:613843
HP:0000580	Pigmentary retinopathy	5052	PRDX1	OMIM:277400
HP:0000580	Pigmentary retinopathy	7399	USH2A	OMIM:613809
HP:0000580	Pigmentary retinopathy	7399	USH2A	ORPHA:791
HP:0000580	Pigmentary retinopathy	7401	CLRN1	OMIM:614180
HP:0000580	Pigmentary retinopathy	7401	CLRN1	ORPHA:791
HP:0000580	Pigmentary retinopathy	26121	PRPF31	OMIM:600138
HP:0000580	Pigmentary retinopathy	26121	PRPF31	ORPHA:791
HP:0000580	Pigmentary retinopathy	10594	PRPF8	OMIM:600059
HP:0000580	Pigmentary retinopathy	10594	PRPF8	ORPHA:791
HP:0000580	Pigmentary retinopathy	92840	REEP6	ORPHA:791
HP:0000580	Pigmentary retinopathy	92840	REEP6	OMIM:617304
HP:0000580	Pigmentary retinopathy	130557	ZNF513	ORPHA:791
HP:0000580	Pigmentary retinopathy	130557	ZNF513	OMIM:613617
HP:0000580	Pigmentary retinopathy	582	BBS1	ORPHA:791
HP:0000580	Pigmentary retinopathy	582	BBS1	OMIM:209900
HP:0000580	Pigmentary retinopathy	92211	CDHR1	ORPHA:791
HP:0000580	Pigmentary retinopathy	92211	CDHR1	ORPHA:1872
HP:0000580	Pigmentary retinopathy	23568	ARL2BP	ORPHA:791
HP:0000580	Pigmentary retinopathy	6101	RP1	ORPHA:791
HP:0000580	Pigmentary retinopathy	6101	RP1	OMIM:180100
HP:0000580	Pigmentary retinopathy	3419	IDH3A	ORPHA:791
HP:0000580	Pigmentary retinopathy	3419	IDH3A	OMIM:619007
HP:0000580	Pigmentary retinopathy	4751	NEK2	ORPHA:791
HP:0000580	Pigmentary retinopathy	346007	EYS	ORPHA:791
HP:0000580	Pigmentary retinopathy	346007	EYS	OMIM:602772
HP:0000580	Pigmentary retinopathy	8100	IFT88	ORPHA:791
HP:0000580	Pigmentary retinopathy	23020	SNRNP200	ORPHA:791
HP:0000580	Pigmentary retinopathy	23020	SNRNP200	OMIM:610359
HP:0000580	Pigmentary retinopathy	762	CA4	ORPHA:791
HP:0000580	Pigmentary retinopathy	138050	HGSNAT	ORPHA:791
HP:0000580	Pigmentary retinopathy	138050	HGSNAT	OMIM:616544
HP:0000580	Pigmentary retinopathy	196	AHR	ORPHA:791
HP:0000580	Pigmentary retinopathy	3614	IMPDH1	ORPHA:791
HP:0000580	Pigmentary retinopathy	3614	IMPDH1	OMIM:180105
HP:0000580	Pigmentary retinopathy	123016	TTC8	ORPHA:791
HP:0000580	Pigmentary retinopathy	123016	TTC8	OMIM:613464
HP:0000580	Pigmentary retinopathy	6103	RPGR	ORPHA:791
HP:0000580	Pigmentary retinopathy	6103	RPGR	ORPHA:1872
HP:0000580	Pigmentary retinopathy	6103	RPGR	OMIM:300029
HP:0000580	Pigmentary retinopathy	1406	CRX	ORPHA:791
HP:0000580	Pigmentary retinopathy	1406	CRX	ORPHA:1872
HP:0000580	Pigmentary retinopathy	1406	CRX	OMIM:120970
HP:0000580	Pigmentary retinopathy	5148	PDE6G	ORPHA:791
HP:0000580	Pigmentary retinopathy	5148	PDE6G	OMIM:613582
HP:0000580	Pigmentary retinopathy	26160	IFT172	ORPHA:791
HP:0000580	Pigmentary retinopathy	4117	MAK	ORPHA:791
HP:0000580	Pigmentary retinopathy	4117	MAK	OMIM:614181
HP:0000580	Pigmentary retinopathy	25794	FSCN2	ORPHA:791
HP:0000580	Pigmentary retinopathy	25794	FSCN2	OMIM:607921
HP:0000580	Pigmentary retinopathy	375298	CERKL	ORPHA:791
HP:0000580	Pigmentary retinopathy	57670	KIAA1549	ORPHA:791
HP:0000580	Pigmentary retinopathy	57670	KIAA1549	OMIM:618613
HP:0000580	Pigmentary retinopathy	7275	TUB	ORPHA:791
HP:0000580	Pigmentary retinopathy	24148	PRPF6	ORPHA:791
HP:0000580	Pigmentary retinopathy	24148	PRPF6	OMIM:613983
HP:0000580	Pigmentary retinopathy	10461	MERTK	ORPHA:791
HP:0000580	Pigmentary retinopathy	57709	SLC7A14	ORPHA:791
HP:0000580	Pigmentary retinopathy	57709	SLC7A14	OMIM:615725
HP:0000580	Pigmentary retinopathy	768206	PRCD	ORPHA:791
HP:0000580	Pigmentary retinopathy	768206	PRCD	OMIM:610599
HP:0000580	Pigmentary retinopathy	23370	ARHGEF18	ORPHA:791
HP:0000580	Pigmentary retinopathy	5949	RBP3	ORPHA:791
HP:0000580	Pigmentary retinopathy	5949	RBP3	OMIM:615233
HP:0000580	Pigmentary retinopathy	6100	RP9	ORPHA:791
HP:0000580	Pigmentary retinopathy	6100	RP9	OMIM:180104
HP:0000580	Pigmentary retinopathy	9227	LRAT	ORPHA:791
HP:0000580	Pigmentary retinopathy	9227	LRAT	ORPHA:364055
HP:0000580	Pigmentary retinopathy	84140	FAM161A	ORPHA:791
HP:0000580	Pigmentary retinopathy	84140	FAM161A	OMIM:606068
HP:0000580	Pigmentary retinopathy	55812	SPATA7	ORPHA:791
HP:0000580	Pigmentary retinopathy	55812	SPATA7	ORPHA:364055
HP:0000580	Pigmentary retinopathy	55624	POMGNT1	ORPHA:791
HP:0000580	Pigmentary retinopathy	55624	POMGNT1	OMIM:617123
HP:0000580	Pigmentary retinopathy	79797	ZNF408	ORPHA:791
HP:0000580	Pigmentary retinopathy	79797	ZNF408	OMIM:616469
HP:0000580	Pigmentary retinopathy	403	ARL3	ORPHA:791
HP:0000580	Pigmentary retinopathy	403	ARL3	OMIM:618173
HP:0000580	Pigmentary retinopathy	10210	TOPORS	ORPHA:791
HP:0000580	Pigmentary retinopathy	9128	PRPF4	ORPHA:791
HP:0000580	Pigmentary retinopathy	145226	RDH12	ORPHA:791
HP:0000580	Pigmentary retinopathy	145226	RDH12	OMIM:612712
HP:0000580	Pigmentary retinopathy	57545	CC2D2A	ORPHA:791
HP:0000580	Pigmentary retinopathy	8481	OFD1	ORPHA:791
HP:0000580	Pigmentary retinopathy	49855	SCAPER	ORPHA:791
HP:0000580	Pigmentary retinopathy	49855	SCAPER	OMIM:618195
HP:0000580	Pigmentary retinopathy	9742	IFT140	ORPHA:791
HP:0000580	Pigmentary retinopathy	9742	IFT140	OMIM:617781
HP:0000580	Pigmentary retinopathy	2979	GUCA1B	ORPHA:791
HP:0000580	Pigmentary retinopathy	1259	CNGA1	ORPHA:791
HP:0000580	Pigmentary retinopathy	1259	CNGA1	OMIM:613756
HP:0000580	Pigmentary retinopathy	1258	CNGB1	ORPHA:791
HP:0000580	Pigmentary retinopathy	1258	CNGB1	OMIM:613767
HP:0000580	Pigmentary retinopathy	60509	AGBL5	ORPHA:791
HP:0000580	Pigmentary retinopathy	60509	AGBL5	OMIM:617023
HP:0000580	Pigmentary retinopathy	388939	PCARE	ORPHA:791
HP:0000580	Pigmentary retinopathy	388939	PCARE	OMIM:613428
HP:0000580	Pigmentary retinopathy	9785	DHX38	ORPHA:791
HP:0000580	Pigmentary retinopathy	9785	DHX38	OMIM:618220
HP:0000580	Pigmentary retinopathy	5995	RGR	ORPHA:791
HP:0000580	Pigmentary retinopathy	9129	PRPF3	ORPHA:791
HP:0000580	Pigmentary retinopathy	55975	KLHL7	ORPHA:791
HP:0000580	Pigmentary retinopathy	3617	IMPG1	ORPHA:791
HP:0000580	Pigmentary retinopathy	94137	RP1L1	ORPHA:791
HP:0000580	Pigmentary retinopathy	94137	RP1L1	OMIM:618826
HP:0000580	Pigmentary retinopathy	5158	PDE6B	ORPHA:791
HP:0000580	Pigmentary retinopathy	5158	PDE6B	OMIM:613801
HP:0000580	Pigmentary retinopathy	64218	SEMA4A	ORPHA:791
HP:0000580	Pigmentary retinopathy	64218	SEMA4A	ORPHA:1872
HP:0000580	Pigmentary retinopathy	64218	SEMA4A	OMIM:610283
HP:0000580	Pigmentary retinopathy	4901	NRL	ORPHA:791
HP:0000580	Pigmentary retinopathy	4901	NRL	OMIM:613750
HP:0000580	Pigmentary retinopathy	157657	CFAP418	ORPHA:791
HP:0000580	Pigmentary retinopathy	157657	CFAP418	OMIM:614500
HP:0000580	Pigmentary retinopathy	157657	CFAP418	ORPHA:1872
HP:0000580	Pigmentary retinopathy	79947	DHDDS	ORPHA:791
HP:0000580	Pigmentary retinopathy	22901	ARSG	OMIM:618144
HP:0000580	Pigmentary retinopathy	54585	LZTFL1	OMIM:615994
HP:0000580	Pigmentary retinopathy	84839	RAX2	OMIM:620102
HP:0000580	Pigmentary retinopathy	84839	RAX2	ORPHA:1872
HP:0000580	Pigmentary retinopathy	2916	GRM6	OMIM:257270
HP:0000580	Pigmentary retinopathy	167691	LCA5	ORPHA:364055
HP:0000580	Pigmentary retinopathy	3098	HK1	OMIM:617460
HP:0000580	Pigmentary retinopathy	83552	MFRP	OMIM:611040
HP:0000580	Pigmentary retinopathy	755	CFAP410	OMIM:617547
HP:0000580	Pigmentary retinopathy	755	CFAP410	ORPHA:1872
HP:0000580	Pigmentary retinopathy	22926	ATF6	ORPHA:1872
HP:0000580	Pigmentary retinopathy	64802	NMNAT1	ORPHA:1872
HP:0000580	Pigmentary retinopathy	64802	NMNAT1	OMIM:608553
HP:0000580	Pigmentary retinopathy	57096	RPGRIP1	ORPHA:1872
HP:0000580	Pigmentary retinopathy	57096	RPGRIP1	OMIM:613826
HP:0000580	Pigmentary retinopathy	57096	RPGRIP1	OMIM:608194
HP:0000580	Pigmentary retinopathy	1261	CNGA3	ORPHA:1872
HP:0000580	Pigmentary retinopathy	5956	OPN1LW	ORPHA:1872
HP:0000580	Pigmentary retinopathy	778	CACNA1F	ORPHA:1872
HP:0000580	Pigmentary retinopathy	8754	ADAM9	ORPHA:1872
HP:0000580	Pigmentary retinopathy	22999	RIMS1	ORPHA:1872
HP:0000580	Pigmentary retinopathy	128338	DRAM2	ORPHA:1872
HP:0000580	Pigmentary retinopathy	2652	OPN1MW	ORPHA:1872
HP:0000580	Pigmentary retinopathy	93589	CACNA2D4	ORPHA:1872
HP:0000580	Pigmentary retinopathy	2978	GUCA1A	ORPHA:1872
HP:0000580	Pigmentary retinopathy	282809	POC1B	ORPHA:1872
HP:0000580	Pigmentary retinopathy	282809	POC1B	OMIM:615973
HP:0000580	Pigmentary retinopathy	83394	PITPNM3	ORPHA:1872
HP:0000580	Pigmentary retinopathy	23093	TTLL5	ORPHA:1872
HP:0000580	Pigmentary retinopathy	83723	TLCD3B	ORPHA:1872
HP:0000580	Pigmentary retinopathy	23746	AIPL1	ORPHA:1872
HP:0000580	Pigmentary retinopathy	9364	RAB28	ORPHA:1872
HP:0000580	Pigmentary retinopathy	112752	IFT43	OMIM:617871
HP:0000580	Pigmentary retinopathy	51109	RDH11	OMIM:616108
HP:0000580	Pigmentary retinopathy	79140	CCDC28B	OMIM:209900
HP:0000580	Pigmentary retinopathy	26504	CNNM4	OMIM:217080
HP:0000580	Pigmentary retinopathy	23761	PISD	OMIM:618889
HP:0000580	Pigmentary retinopathy	129880	BBS5	OMIM:615983
HP:0000580	Pigmentary retinopathy	27241	BBS9	OMIM:615986
HP:0000580	Pigmentary retinopathy	51095	TRNT1	OMIM:616959
HP:0001147	Retinal exudate	23554	TSPAN12	OMIM:613310
HP:0001147	Retinal exudate	8322	FZD4	OMIM:133780
HP:0001147	Retinal exudate	4041	LRP5	OMIM:133780
HP:0001147	Retinal exudate	4041	LRP5	OMIM:601813
HP:0001147	Retinal exudate	79797	ZNF408	OMIM:616468
HP:0001147	Retinal exudate	25913	POT1	OMIM:620368
HP:0001147	Retinal exudate	11277	TREX1	OMIM:192315
HP:0001147	Retinal exudate	80169	CTC1	OMIM:612199
HP:0001147	Retinal exudate	4149	MAX	OMIM:620712
HP:0001147	Retinal exudate	26277	TINF2	OMIM:268130
HP:0001147	Retinal exudate	26277	TINF2	OMIM:613990
HP:0001147	Retinal exudate	22947	DUX4L1	ORPHA:269
HP:0001147	Retinal exudate	1789	DNMT3B	ORPHA:269
HP:0001147	Retinal exudate	2483	FRG1	ORPHA:269
HP:0001147	Retinal exudate	23347	SMCHD1	ORPHA:269
HP:0001147	Retinal exudate	100288687	DUX4	ORPHA:269
HP:0001147	Retinal exudate	4693	NDP	OMIM:305390
HP:0000543	Optic disc pallor	7287	TULP1	OMIM:600132
HP:0000543	Optic disc pallor	7287	TULP1	ORPHA:791
HP:0000543	Optic disc pallor	7287	TULP1	ORPHA:65
HP:0000543	Optic disc pallor	7287	TULP1	OMIM:613843
HP:0000543	Optic disc pallor	9488	PIGB	OMIM:618580
HP:0000543	Optic disc pallor	778	CACNA1F	OMIM:300476
HP:0000543	Optic disc pallor	778	CACNA1F	ORPHA:1872
HP:0000543	Optic disc pallor	26121	PRPF31	OMIM:600138
HP:0000543	Optic disc pallor	26121	PRPF31	ORPHA:791
HP:0000543	Optic disc pallor	9131	AIFM1	OMIM:300232
HP:0000543	Optic disc pallor	23769	FLRT1	ORPHA:320406
HP:0000543	Optic disc pallor	64837	KLC2	ORPHA:320406
HP:0000543	Optic disc pallor	64837	KLC2	OMIM:609541
HP:0000543	Optic disc pallor	92840	REEP6	ORPHA:791
HP:0000543	Optic disc pallor	6094	ROM1	ORPHA:791
HP:0000543	Optic disc pallor	6017	RLBP1	ORPHA:791
HP:0000543	Optic disc pallor	7401	CLRN1	ORPHA:791
HP:0000543	Optic disc pallor	24	ABCA4	ORPHA:791
HP:0000543	Optic disc pallor	24	ABCA4	ORPHA:1872
HP:0000543	Optic disc pallor	24	ABCA4	OMIM:601718
HP:0000543	Optic disc pallor	24	ABCA4	OMIM:604116
HP:0000543	Optic disc pallor	130557	ZNF513	ORPHA:791
HP:0000543	Optic disc pallor	130557	ZNF513	OMIM:613617
HP:0000543	Optic disc pallor	582	BBS1	ORPHA:791
HP:0000543	Optic disc pallor	92211	CDHR1	ORPHA:791
HP:0000543	Optic disc pallor	92211	CDHR1	ORPHA:1872
HP:0000543	Optic disc pallor	23568	ARL2BP	ORPHA:791
HP:0000543	Optic disc pallor	23568	ARL2BP	OMIM:615434
HP:0000543	Optic disc pallor	6121	RPE65	ORPHA:791
HP:0000543	Optic disc pallor	6121	RPE65	ORPHA:364055
HP:0000543	Optic disc pallor	6121	RPE65	ORPHA:65
HP:0000543	Optic disc pallor	6121	RPE65	OMIM:204100
HP:0000543	Optic disc pallor	54806	AHI1	ORPHA:791
HP:0000543	Optic disc pallor	6101	RP1	ORPHA:791
HP:0000543	Optic disc pallor	6101	RP1	OMIM:180100
HP:0000543	Optic disc pallor	3419	IDH3A	ORPHA:791
HP:0000543	Optic disc pallor	4751	NEK2	ORPHA:791
HP:0000543	Optic disc pallor	346007	EYS	ORPHA:791
HP:0000543	Optic disc pallor	346007	EYS	OMIM:602772
HP:0000543	Optic disc pallor	8100	IFT88	ORPHA:791
HP:0000543	Optic disc pallor	23020	SNRNP200	ORPHA:791
HP:0000543	Optic disc pallor	23020	SNRNP200	OMIM:610359
HP:0000543	Optic disc pallor	762	CA4	ORPHA:791
HP:0000543	Optic disc pallor	138050	HGSNAT	ORPHA:791
HP:0000543	Optic disc pallor	138050	HGSNAT	OMIM:616544
HP:0000543	Optic disc pallor	196	AHR	ORPHA:791
HP:0000543	Optic disc pallor	3614	IMPDH1	ORPHA:791
HP:0000543	Optic disc pallor	3614	IMPDH1	OMIM:180105
HP:0000543	Optic disc pallor	3614	IMPDH1	ORPHA:65
HP:0000543	Optic disc pallor	123016	TTC8	ORPHA:791
HP:0000543	Optic disc pallor	6103	RPGR	ORPHA:791
HP:0000543	Optic disc pallor	6103	RPGR	ORPHA:1872
HP:0000543	Optic disc pallor	1406	CRX	ORPHA:791
HP:0000543	Optic disc pallor	1406	CRX	ORPHA:1872
HP:0000543	Optic disc pallor	1406	CRX	ORPHA:65
HP:0000543	Optic disc pallor	5148	PDE6G	ORPHA:791
HP:0000543	Optic disc pallor	5148	PDE6G	OMIM:613582
HP:0000543	Optic disc pallor	26160	IFT172	ORPHA:791
HP:0000543	Optic disc pallor	26160	IFT172	OMIM:616394
HP:0000543	Optic disc pallor	583	BBS2	ORPHA:791
HP:0000543	Optic disc pallor	583	BBS2	OMIM:616562
HP:0000543	Optic disc pallor	4117	MAK	ORPHA:791
HP:0000543	Optic disc pallor	4117	MAK	OMIM:614181
HP:0000543	Optic disc pallor	25794	FSCN2	ORPHA:791
HP:0000543	Optic disc pallor	375298	CERKL	ORPHA:791
HP:0000543	Optic disc pallor	375298	CERKL	OMIM:608380
HP:0000543	Optic disc pallor	3420	IDH3B	ORPHA:791
HP:0000543	Optic disc pallor	3420	IDH3B	OMIM:612572
HP:0000543	Optic disc pallor	57670	KIAA1549	ORPHA:791
HP:0000543	Optic disc pallor	57670	KIAA1549	OMIM:618613
HP:0000543	Optic disc pallor	7275	TUB	ORPHA:791
HP:0000543	Optic disc pallor	24148	PRPF6	ORPHA:791
HP:0000543	Optic disc pallor	24148	PRPF6	OMIM:613983
HP:0000543	Optic disc pallor	23418	CRB1	ORPHA:791
HP:0000543	Optic disc pallor	23418	CRB1	OMIM:600105
HP:0000543	Optic disc pallor	23418	CRB1	ORPHA:65
HP:0000543	Optic disc pallor	10461	MERTK	ORPHA:791
HP:0000543	Optic disc pallor	10461	MERTK	OMIM:613862
HP:0000543	Optic disc pallor	57709	SLC7A14	ORPHA:791
HP:0000543	Optic disc pallor	768206	PRCD	ORPHA:791
HP:0000543	Optic disc pallor	768206	PRCD	OMIM:610599
HP:0000543	Optic disc pallor	7399	USH2A	ORPHA:791
HP:0000543	Optic disc pallor	23370	ARHGEF18	ORPHA:791
HP:0000543	Optic disc pallor	23370	ARHGEF18	OMIM:617433
HP:0000543	Optic disc pallor	5949	RBP3	ORPHA:791
HP:0000543	Optic disc pallor	5949	RBP3	OMIM:615233
HP:0000543	Optic disc pallor	6010	RHO	ORPHA:791
HP:0000543	Optic disc pallor	6100	RP9	ORPHA:791
HP:0000543	Optic disc pallor	10002	NR2E3	ORPHA:791
HP:0000543	Optic disc pallor	9227	LRAT	ORPHA:791
HP:0000543	Optic disc pallor	9227	LRAT	ORPHA:364055
HP:0000543	Optic disc pallor	9227	LRAT	OMIM:613341
HP:0000543	Optic disc pallor	9227	LRAT	ORPHA:65
HP:0000543	Optic disc pallor	84140	FAM161A	ORPHA:791
HP:0000543	Optic disc pallor	84140	FAM161A	OMIM:606068
HP:0000543	Optic disc pallor	55812	SPATA7	ORPHA:791
HP:0000543	Optic disc pallor	55812	SPATA7	ORPHA:364055
HP:0000543	Optic disc pallor	55812	SPATA7	ORPHA:65
HP:0000543	Optic disc pallor	55624	POMGNT1	ORPHA:791
HP:0000543	Optic disc pallor	79797	ZNF408	ORPHA:791
HP:0000543	Optic disc pallor	79797	ZNF408	OMIM:616469
HP:0000543	Optic disc pallor	403	ARL3	ORPHA:791
HP:0000543	Optic disc pallor	5145	PDE6A	ORPHA:791
HP:0000543	Optic disc pallor	5145	PDE6A	OMIM:613810
HP:0000543	Optic disc pallor	10210	TOPORS	ORPHA:791
HP:0000543	Optic disc pallor	8842	PROM1	ORPHA:791
HP:0000543	Optic disc pallor	8842	PROM1	OMIM:612095
HP:0000543	Optic disc pallor	8842	PROM1	ORPHA:1872
HP:0000543	Optic disc pallor	9128	PRPF4	ORPHA:791
HP:0000543	Optic disc pallor	9128	PRPF4	OMIM:615922
HP:0000543	Optic disc pallor	145226	RDH12	ORPHA:791
HP:0000543	Optic disc pallor	145226	RDH12	OMIM:612712
HP:0000543	Optic disc pallor	145226	RDH12	ORPHA:65
HP:0000543	Optic disc pallor	50939	IMPG2	ORPHA:791
HP:0000543	Optic disc pallor	50939	IMPG2	OMIM:613581
HP:0000543	Optic disc pallor	57545	CC2D2A	ORPHA:791
HP:0000543	Optic disc pallor	8481	OFD1	ORPHA:791
HP:0000543	Optic disc pallor	49855	SCAPER	ORPHA:791
HP:0000543	Optic disc pallor	49855	SCAPER	OMIM:618195
HP:0000543	Optic disc pallor	9742	IFT140	ORPHA:791
HP:0000543	Optic disc pallor	9742	IFT140	ORPHA:65
HP:0000543	Optic disc pallor	2979	GUCA1B	ORPHA:791
HP:0000543	Optic disc pallor	1259	CNGA1	ORPHA:791
HP:0000543	Optic disc pallor	1259	CNGA1	OMIM:613756
HP:0000543	Optic disc pallor	1258	CNGB1	ORPHA:791
HP:0000543	Optic disc pallor	60509	AGBL5	ORPHA:791
HP:0000543	Optic disc pallor	5961	PRPH2	ORPHA:791
HP:0000543	Optic disc pallor	5961	PRPH2	ORPHA:1872
HP:0000543	Optic disc pallor	388939	PCARE	ORPHA:791
HP:0000543	Optic disc pallor	7439	BEST1	ORPHA:791
HP:0000543	Optic disc pallor	7439	BEST1	OMIM:613194
HP:0000543	Optic disc pallor	9785	DHX38	ORPHA:791
HP:0000543	Optic disc pallor	5995	RGR	ORPHA:791
HP:0000543	Optic disc pallor	9129	PRPF3	ORPHA:791
HP:0000543	Optic disc pallor	55975	KLHL7	ORPHA:791
HP:0000543	Optic disc pallor	3617	IMPG1	ORPHA:791
HP:0000543	Optic disc pallor	94137	RP1L1	ORPHA:791
HP:0000543	Optic disc pallor	94137	RP1L1	OMIM:618826
HP:0000543	Optic disc pallor	5158	PDE6B	ORPHA:791
HP:0000543	Optic disc pallor	6102	RP2	ORPHA:791
HP:0000543	Optic disc pallor	55857	KIZ	ORPHA:791
HP:0000543	Optic disc pallor	64218	SEMA4A	ORPHA:791
HP:0000543	Optic disc pallor	64218	SEMA4A	ORPHA:1872
HP:0000543	Optic disc pallor	4901	NRL	ORPHA:791
HP:0000543	Optic disc pallor	157657	CFAP418	ORPHA:791
HP:0000543	Optic disc pallor	157657	CFAP418	ORPHA:1872
HP:0000543	Optic disc pallor	157657	CFAP418	OMIM:614500
HP:0000543	Optic disc pallor	10594	PRPF8	ORPHA:791
HP:0000543	Optic disc pallor	84100	ARL6	ORPHA:791
HP:0000543	Optic disc pallor	6295	SAG	ORPHA:791
HP:0000543	Optic disc pallor	79947	DHDDS	ORPHA:791
HP:0000543	Optic disc pallor	54539	NDUFB11	ORPHA:2609
HP:0000543	Optic disc pallor	25915	NDUFAF3	ORPHA:2609
HP:0000543	Optic disc pallor	25915	NDUFAF3	OMIM:618240
HP:0000543	Optic disc pallor	51103	NDUFAF1	ORPHA:2609
HP:0000543	Optic disc pallor	91942	NDUFAF2	ORPHA:2609
HP:0000543	Optic disc pallor	51300	TIMMDC1	ORPHA:2609
HP:0000543	Optic disc pallor	4716	NDUFB10	ORPHA:2609
HP:0000543	Optic disc pallor	4723	NDUFV1	ORPHA:2609
HP:0000543	Optic disc pallor	55572	FOXRED1	ORPHA:2609
HP:0000543	Optic disc pallor	284184	NDUFAF8	ORPHA:2609
HP:0000543	Optic disc pallor	284184	NDUFAF8	OMIM:618776
HP:0000543	Optic disc pallor	55863	TMEM126B	ORPHA:2609
HP:0000543	Optic disc pallor	4535	MT-ND1	ORPHA:2609
HP:0000543	Optic disc pallor	4537	MT-ND3	ORPHA:2609
HP:0000543	Optic disc pallor	4729	NDUFV2	ORPHA:2609
HP:0000543	Optic disc pallor	4694	NDUFA1	ORPHA:2609
HP:0000543	Optic disc pallor	4720	NDUFS2	ORPHA:2609
HP:0000543	Optic disc pallor	4720	NDUFS2	OMIM:618228
HP:0000543	Optic disc pallor	4724	NDUFS4	ORPHA:2609
HP:0000543	Optic disc pallor	4724	NDUFS4	OMIM:252010
HP:0000543	Optic disc pallor	4726	NDUFS6	ORPHA:2609
HP:0000543	Optic disc pallor	4728	NDUFS8	ORPHA:2609
HP:0000543	Optic disc pallor	4722	NDUFS3	ORPHA:2609
HP:0000543	Optic disc pallor	4722	NDUFS3	OMIM:618230
HP:0000543	Optic disc pallor	79133	NDUFAF5	ORPHA:2609
HP:0000543	Optic disc pallor	126328	NDUFA11	ORPHA:2609
HP:0000543	Optic disc pallor	4709	NDUFB3	ORPHA:2609
HP:0000543	Optic disc pallor	80224	NUBPL	ORPHA:2609
HP:0000543	Optic disc pallor	29078	NDUFAF4	ORPHA:2609
HP:0000543	Optic disc pallor	374291	NDUFS7	ORPHA:2609
HP:0000543	Optic disc pallor	4700	NDUFA6	ORPHA:2609
HP:0000543	Optic disc pallor	4536	MT-ND2	ORPHA:2609
HP:0000543	Optic disc pallor	4719	NDUFS1	ORPHA:2609
HP:0000543	Optic disc pallor	4715	NDUFB9	ORPHA:2609
HP:0000543	Optic disc pallor	50	ACO2	OMIM:616289
HP:0000543	Optic disc pallor	2895	GRID2	OMIM:616204
HP:0000543	Optic disc pallor	7167	TPI1	OMIM:615512
HP:0000543	Optic disc pallor	1161	ERCC8	ORPHA:90324
HP:0000543	Optic disc pallor	2074	ERCC6	ORPHA:90324
HP:0000543	Optic disc pallor	4598	MVK	OMIM:260920
HP:0000543	Optic disc pallor	4598	MVK	OMIM:610377
HP:0000543	Optic disc pallor	83700	JAM3	OMIM:613730
HP:0000543	Optic disc pallor	10059	DNM1L	OMIM:614388
HP:0000543	Optic disc pallor	10059	DNM1L	OMIM:610708
HP:0000543	Optic disc pallor	8573	CASK	OMIM:300749
HP:0000543	Optic disc pallor	8573	CASK	ORPHA:163937
HP:0000543	Optic disc pallor	1593	CYP27A1	OMIM:213700
HP:0000543	Optic disc pallor	1593	CYP27A1	ORPHA:909
HP:0000543	Optic disc pallor	123263	MTFMT	OMIM:614947
HP:0000543	Optic disc pallor	56623	INPP5E	OMIM:213300
HP:0000543	Optic disc pallor	80207	OPA3	OMIM:165300
HP:0000543	Optic disc pallor	6687	SPG7	ORPHA:99013
HP:0000543	Optic disc pallor	91147	TMEM67	OMIM:216360
HP:0000543	Optic disc pallor	4125	MAN2B1	ORPHA:309282
HP:0000543	Optic disc pallor	4125	MAN2B1	ORPHA:309288
HP:0000543	Optic disc pallor	5631	PRPS1	ORPHA:423479
HP:0000543	Optic disc pallor	10733	PLK4	OMIM:616171
HP:0000543	Optic disc pallor	256471	MFSD8	OMIM:616170
HP:0000543	Optic disc pallor	167691	LCA5	ORPHA:364055
HP:0000543	Optic disc pallor	167691	LCA5	ORPHA:65
HP:0000543	Optic disc pallor	1349	COX7B	OMIM:300887
HP:0000543	Optic disc pallor	6809	STX3	OMIM:619446
HP:0000543	Optic disc pallor	83715	ESPN	OMIM:618632
HP:0000543	Optic disc pallor	8566	PDXK	OMIM:618511
HP:0000543	Optic disc pallor	89910	UBE3B	OMIM:244450
HP:0000543	Optic disc pallor	83552	MFRP	OMIM:611040
HP:0000543	Optic disc pallor	6392	SDHD	OMIM:619167
HP:0000543	Optic disc pallor	55215	FANCI	OMIM:609053
HP:0000543	Optic disc pallor	84816	RTN4IP1	OMIM:616732
HP:0000543	Optic disc pallor	22926	ATF6	ORPHA:1872
HP:0000543	Optic disc pallor	64802	NMNAT1	ORPHA:1872
HP:0000543	Optic disc pallor	64802	NMNAT1	ORPHA:65
HP:0000543	Optic disc pallor	64802	NMNAT1	OMIM:608553
HP:0000543	Optic disc pallor	64802	NMNAT1	OMIM:619260
HP:0000543	Optic disc pallor	84839	RAX2	ORPHA:1872
HP:0000543	Optic disc pallor	84839	RAX2	OMIM:620102
HP:0000543	Optic disc pallor	57096	RPGRIP1	ORPHA:1872
HP:0000543	Optic disc pallor	57096	RPGRIP1	OMIM:608194
HP:0000543	Optic disc pallor	57096	RPGRIP1	ORPHA:65
HP:0000543	Optic disc pallor	57096	RPGRIP1	OMIM:613826
HP:0000543	Optic disc pallor	1261	CNGA3	ORPHA:1872
HP:0000543	Optic disc pallor	5956	OPN1LW	ORPHA:1872
HP:0000543	Optic disc pallor	755	CFAP410	ORPHA:1872
HP:0000543	Optic disc pallor	8754	ADAM9	ORPHA:1872
HP:0000543	Optic disc pallor	3000	GUCY2D	ORPHA:1872
HP:0000543	Optic disc pallor	3000	GUCY2D	ORPHA:65
HP:0000543	Optic disc pallor	22999	RIMS1	ORPHA:1872
HP:0000543	Optic disc pallor	128338	DRAM2	ORPHA:1872
HP:0000543	Optic disc pallor	2652	OPN1MW	ORPHA:1872
HP:0000543	Optic disc pallor	9094	UNC119	ORPHA:1872
HP:0000543	Optic disc pallor	93589	CACNA2D4	ORPHA:1872
HP:0000543	Optic disc pallor	2978	GUCA1A	ORPHA:1872
HP:0000543	Optic disc pallor	282809	POC1B	ORPHA:1872
HP:0000543	Optic disc pallor	282809	POC1B	OMIM:615973
HP:0000543	Optic disc pallor	83394	PITPNM3	ORPHA:1872
HP:0000543	Optic disc pallor	23093	TTLL5	ORPHA:1872
HP:0000543	Optic disc pallor	83723	TLCD3B	ORPHA:1872
HP:0000543	Optic disc pallor	23746	AIPL1	ORPHA:1872
HP:0000543	Optic disc pallor	23746	AIPL1	OMIM:604393
HP:0000543	Optic disc pallor	23746	AIPL1	ORPHA:65
HP:0000543	Optic disc pallor	9364	RAB28	ORPHA:1872
HP:0000543	Optic disc pallor	85015	USP45	OMIM:618513
HP:0000543	Optic disc pallor	85015	USP45	ORPHA:65
HP:0000543	Optic disc pallor	5010	CLDN11	OMIM:619328
HP:0000543	Optic disc pallor	55768	NGLY1	ORPHA:404454
HP:0000543	Optic disc pallor	5189	PEX1	OMIM:214100
HP:0000543	Optic disc pallor	9179	AP4M1	OMIM:612936
HP:0000543	Optic disc pallor	54471	MIEF1	OMIM:620550
HP:0000543	Optic disc pallor	3105	HLA-A	ORPHA:179
HP:0000543	Optic disc pallor	4718	NDUFC2	OMIM:619170
HP:0000543	Optic disc pallor	84340	GFM2	ORPHA:565624
HP:0000543	Optic disc pallor	8120	AP3B2	OMIM:617276
HP:0000543	Optic disc pallor	64834	ELOVL1	OMIM:618527
HP:0000543	Optic disc pallor	9692	PRORP	OMIM:619737
HP:0000543	Optic disc pallor	51079	NDUFA13	OMIM:618249
HP:0000543	Optic disc pallor	26504	CNNM4	OMIM:217080
HP:0000543	Optic disc pallor	23761	PISD	OMIM:618889
HP:0000543	Optic disc pallor	51102	MECR	OMIM:617282
HP:0000543	Optic disc pallor	5277	PIGA	OMIM:300868
HP:0000543	Optic disc pallor	9445	ITM2B	OMIM:616079
HP:0000543	Optic disc pallor	23327	NEDD4L	OMIM:617201
HP:0000543	Optic disc pallor	7466	WFS1	OMIM:614296
HP:0000543	Optic disc pallor	2257	FGF12	OMIM:617166
HP:0000543	Optic disc pallor	8550	MAPKAPK5	OMIM:619869
HP:0000543	Optic disc pallor	54664	TMEM106B	OMIM:617964
HP:0000543	Optic disc pallor	55154	MSTO1	ORPHA:502423
HP:0000543	Optic disc pallor	9927	MFN2	OMIM:601152
HP:0000543	Optic disc pallor	9927	MFN2	OMIM:617087
HP:0000543	Optic disc pallor	7840	ALMS1	ORPHA:64
HP:0000543	Optic disc pallor	3769	KCNJ13	ORPHA:65
HP:0000543	Optic disc pallor	3769	KCNJ13	OMIM:614186
HP:0000543	Optic disc pallor	343035	RD3	ORPHA:65
HP:0000543	Optic disc pallor	80184	CEP290	ORPHA:65
HP:0000543	Optic disc pallor	10383	TUBB4B	ORPHA:65
HP:0000543	Optic disc pallor	5130	PCYT1A	ORPHA:65
HP:0000543	Optic disc pallor	9657	IQCB1	ORPHA:65
HP:0000543	Optic disc pallor	392255	GDF6	ORPHA:65
HP:0000543	Optic disc pallor	149371	EXOC8	OMIM:619076
HP:0000543	Optic disc pallor	1861	TOR1A	OMIM:618947
HP:0000543	Optic disc pallor	3035	HARS1	OMIM:614504
HP:0000543	Optic disc pallor	90624	LYRM7	OMIM:615838
HP:0000543	Optic disc pallor	3748	KCNC3	ORPHA:98768
HP:0000543	Optic disc pallor	4784	NFIX	ORPHA:420179
HP:0000543	Optic disc pallor	25914	RTTN	ORPHA:468631
HP:0000543	Optic disc pallor	1859	DYRK1A	ORPHA:464311
HP:0000543	Optic disc pallor	27349	MCAT	OMIM:620583
HP:0000543	Optic disc pallor	80781	COL18A1	OMIM:267750
HP:0000543	Optic disc pallor	30813	VSX1	OMIM:614195
HP:0000543	Optic disc pallor	1615	DARS1	OMIM:615281
HP:0000543	Optic disc pallor	55617	TASP1	OMIM:618950
HP:0000543	Optic disc pallor	3098	HK1	OMIM:617460
HP:0000543	Optic disc pallor	200894	ARL13B	OMIM:612291
HP:0000543	Optic disc pallor	388552	BLOC1S3	OMIM:614077
HP:0000543	Optic disc pallor	56947	MFF	ORPHA:485421
HP:0000543	Optic disc pallor	56947	MFF	OMIM:617086
HP:0000543	Optic disc pallor	7025	NR2F1	OMIM:615722
HP:0000543	Optic disc pallor	25973	PARS2	OMIM:618437
HP:0000543	Optic disc pallor	3187	HNRNPH1	OMIM:620083
HP:0000543	Optic disc pallor	3798	KIF5A	OMIM:617235
HP:0000543	Optic disc pallor	50484	RRM2B	OMIM:268315
HP:0000543	Optic disc pallor	1186	CLCN7	OMIM:611490
HP:0000543	Optic disc pallor	112752	IFT43	OMIM:617871
HP:0000543	Optic disc pallor	2779	GNAT1	OMIM:616389
HP:0000543	Optic disc pallor	2055	CLN8	ORPHA:1947
HP:0000543	Optic disc pallor	84233	TMEM126A	OMIM:612989
HP:0000543	Optic disc pallor	4508	MT-ATP6	ORPHA:644
HP:0000543	Optic disc pallor	28962	OSTM1	OMIM:259720
HP:0000543	Optic disc pallor	23155	CLCC1	OMIM:609913
HP:0000543	Optic disc pallor	116150	NUS1	OMIM:617082
HP:0000543	Optic disc pallor	9699	RIMS2	OMIM:618970
HP:0000543	Optic disc pallor	54903	MKS1	OMIM:617121
HP:0000543	Optic disc pallor	55181	SMG8	OMIM:619268
HP:0000543	Optic disc pallor	27072	VPS41	OMIM:619389
HP:0000543	Optic disc pallor	55331	ACER3	OMIM:617762
HP:0000543	Optic disc pallor	80025	PANK2	ORPHA:216866
HP:0000543	Optic disc pallor	85378	TUBGCP6	OMIM:251270
HP:0000543	Optic disc pallor	9181	ARHGEF2	OMIM:617523
HP:0000543	Optic disc pallor	129880	BBS5	OMIM:615983
HP:0000543	Optic disc pallor	10939	AFG3L2	OMIM:618977
HP:0000543	Optic disc pallor	27445	PCLO	OMIM:608027
HP:0000543	Optic disc pallor	51095	TRNT1	OMIM:616959
HP:0000543	Optic disc pallor	6310	ATXN1	OMIM:164400
HP:0000543	Optic disc pallor	4099	MAG	ORPHA:459056
HP:0000543	Optic disc pallor	4976	OPA1	ORPHA:98673
HP:0000543	Optic disc pallor	4976	OPA1	ORPHA:1215
HP:0000543	Optic disc pallor	344658	SAMD7	OMIM:620762
HP:0000543	Optic disc pallor	2202	EFEMP1	ORPHA:98977
HP:0000543	Optic disc pallor	1545	CYP1B1	ORPHA:98977
HP:0000543	Optic disc pallor	4653	MYOC	ORPHA:98977
HP:0000543	Optic disc pallor	1798	DPAGT1	ORPHA:86309
HP:0000543	Optic disc pallor	126792	B3GALT6	ORPHA:536467
HP:0000543	Optic disc pallor	114902	C1QTNF5	ORPHA:67042
HP:0000543	Optic disc pallor	4327	MMP19	OMIM:611543
HP:0000543	Optic disc pallor	1282	COL4A1	OMIM:175780
HP:0001149	Lattice corneal dystrophy	7045	TGFBI	OMIM:608471
HP:0001149	Lattice corneal dystrophy	7045	TGFBI	OMIM:607541
HP:0001149	Lattice corneal dystrophy	7045	TGFBI	OMIM:122200
HP:0001149	Lattice corneal dystrophy	7045	TGFBI	ORPHA:98964
HP:0001149	Lattice corneal dystrophy	2934	GSN	ORPHA:85448
HP:0001149	Lattice corneal dystrophy	2934	GSN	OMIM:105120
HP:0030455	Abnormality of pattern visual evoked potentials	4976	OPA1	OMIM:125250
HP:0030455	Abnormality of pattern visual evoked potentials	4976	OPA1	OMIM:165500
HP:0030455	Abnormality of pattern visual evoked potentials	80208	SPG11	ORPHA:2822
HP:0030455	Abnormality of pattern visual evoked potentials	10059	DNM1L	OMIM:610708
HP:0030455	Abnormality of pattern visual evoked potentials	2055	CLN8	ORPHA:1947
HP:0030455	Abnormality of pattern visual evoked potentials	10283	CWC27	ORPHA:166035
HP:0030454	Abnormal electrooculogram	3617	IMPG1	OMIM:616151
HP:0030454	Abnormal electrooculogram	4287	ATXN3	OMIM:109150
HP:0030453	Abnormal visual electrophysiology	7399	USH2A	OMIM:613809
HP:0030453	Abnormal visual electrophysiology	7399	USH2A	ORPHA:231178
HP:0030453	Abnormal visual electrophysiology	7399	USH2A	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	3769	KCNJ13	ORPHA:65
HP:0030453	Abnormal visual electrophysiology	343035	RD3	ORPHA:65
HP:0030453	Abnormal visual electrophysiology	145226	RDH12	ORPHA:65
HP:0030453	Abnormal visual electrophysiology	145226	RDH12	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	1406	CRX	ORPHA:65
HP:0030453	Abnormal visual electrophysiology	1406	CRX	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	1406	CRX	OMIM:120970
HP:0030453	Abnormal visual electrophysiology	64802	NMNAT1	ORPHA:65
HP:0030453	Abnormal visual electrophysiology	57096	RPGRIP1	ORPHA:65
HP:0030453	Abnormal visual electrophysiology	57096	RPGRIP1	OMIM:613826
HP:0030453	Abnormal visual electrophysiology	57096	RPGRIP1	OMIM:608194
HP:0030453	Abnormal visual electrophysiology	80184	CEP290	ORPHA:65
HP:0030453	Abnormal visual electrophysiology	80184	CEP290	ORPHA:110
HP:0030453	Abnormal visual electrophysiology	10383	TUBB4B	ORPHA:65
HP:0030453	Abnormal visual electrophysiology	9742	IFT140	ORPHA:65
HP:0030453	Abnormal visual electrophysiology	9742	IFT140	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	85015	USP45	ORPHA:65
HP:0030453	Abnormal visual electrophysiology	6121	RPE65	ORPHA:65
HP:0030453	Abnormal visual electrophysiology	6121	RPE65	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	23418	CRB1	ORPHA:65
HP:0030453	Abnormal visual electrophysiology	23418	CRB1	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	5130	PCYT1A	ORPHA:65
HP:0030453	Abnormal visual electrophysiology	9657	IQCB1	ORPHA:65
HP:0030453	Abnormal visual electrophysiology	392255	GDF6	ORPHA:65
HP:0030453	Abnormal visual electrophysiology	23746	AIPL1	ORPHA:65
HP:0030453	Abnormal visual electrophysiology	3000	GUCY2D	ORPHA:65
HP:0030453	Abnormal visual electrophysiology	9227	LRAT	ORPHA:65
HP:0030453	Abnormal visual electrophysiology	9227	LRAT	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	55812	SPATA7	ORPHA:65
HP:0030453	Abnormal visual electrophysiology	55812	SPATA7	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	7287	TULP1	ORPHA:65
HP:0030453	Abnormal visual electrophysiology	7287	TULP1	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	167691	LCA5	ORPHA:65
HP:0030453	Abnormal visual electrophysiology	3614	IMPDH1	ORPHA:65
HP:0030453	Abnormal visual electrophysiology	3614	IMPDH1	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	92482	BBIP1	ORPHA:110
HP:0030453	Abnormal visual electrophysiology	11020	IFT27	ORPHA:110
HP:0030453	Abnormal visual electrophysiology	582	BBS1	ORPHA:110
HP:0030453	Abnormal visual electrophysiology	582	BBS1	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	49855	SCAPER	ORPHA:110
HP:0030453	Abnormal visual electrophysiology	49855	SCAPER	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	4867	NPHP1	ORPHA:110
HP:0030453	Abnormal visual electrophysiology	51057	WDPCP	ORPHA:110
HP:0030453	Abnormal visual electrophysiology	132320	SCLT1	ORPHA:110
HP:0030453	Abnormal visual electrophysiology	27241	BBS9	ORPHA:110
HP:0030453	Abnormal visual electrophysiology	84984	CEP19	ORPHA:110
HP:0030453	Abnormal visual electrophysiology	22954	TRIM32	ORPHA:110
HP:0030453	Abnormal visual electrophysiology	54903	MKS1	ORPHA:110
HP:0030453	Abnormal visual electrophysiology	79738	BBS10	ORPHA:110
HP:0030453	Abnormal visual electrophysiology	123016	TTC8	ORPHA:110
HP:0030453	Abnormal visual electrophysiology	123016	TTC8	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	26160	IFT172	ORPHA:110
HP:0030453	Abnormal visual electrophysiology	26160	IFT172	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	583	BBS2	ORPHA:110
HP:0030453	Abnormal visual electrophysiology	583	BBS2	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	585	BBS4	ORPHA:110
HP:0030453	Abnormal visual electrophysiology	8195	MKKS	ORPHA:110
HP:0030453	Abnormal visual electrophysiology	54585	LZTFL1	ORPHA:110
HP:0030453	Abnormal visual electrophysiology	55212	BBS7	ORPHA:110
HP:0030453	Abnormal visual electrophysiology	166379	BBS12	ORPHA:110
HP:0030453	Abnormal visual electrophysiology	10806	SDCCAG8	ORPHA:110
HP:0030453	Abnormal visual electrophysiology	157657	CFAP418	ORPHA:110
HP:0030453	Abnormal visual electrophysiology	157657	CFAP418	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	84100	ARL6	ORPHA:110
HP:0030453	Abnormal visual electrophysiology	84100	ARL6	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	129880	BBS5	ORPHA:110
HP:0030453	Abnormal visual electrophysiology	80173	IFT74	ORPHA:110
HP:0030453	Abnormal visual electrophysiology	6247	RS1	ORPHA:792
HP:0030453	Abnormal visual electrophysiology	79955	PDZD7	ORPHA:231178
HP:0030453	Abnormal visual electrophysiology	4647	MYO7A	ORPHA:231178
HP:0030453	Abnormal visual electrophysiology	4647	MYO7A	OMIM:276900
HP:0030453	Abnormal visual electrophysiology	4647	MYO7A	ORPHA:231169
HP:0030453	Abnormal visual electrophysiology	25861	WHRN	ORPHA:231178
HP:0030453	Abnormal visual electrophysiology	84059	ADGRV1	ORPHA:231178
HP:0030453	Abnormal visual electrophysiology	92840	REEP6	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	6094	ROM1	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	6094	ROM1	OMIM:608133
HP:0030453	Abnormal visual electrophysiology	6017	RLBP1	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	6017	RLBP1	OMIM:607475
HP:0030453	Abnormal visual electrophysiology	7401	CLRN1	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	7401	CLRN1	ORPHA:231183
HP:0030453	Abnormal visual electrophysiology	24	ABCA4	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	24	ABCA4	OMIM:601718
HP:0030453	Abnormal visual electrophysiology	130557	ZNF513	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	92211	CDHR1	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	23568	ARL2BP	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	54806	AHI1	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	54806	AHI1	OMIM:608629
HP:0030453	Abnormal visual electrophysiology	6101	RP1	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	3419	IDH3A	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	4751	NEK2	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	346007	EYS	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	8100	IFT88	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	23020	SNRNP200	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	762	CA4	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	138050	HGSNAT	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	196	AHR	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	6103	RPGR	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	5148	PDE6G	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	26121	PRPF31	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	4117	MAK	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	25794	FSCN2	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	375298	CERKL	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	3420	IDH3B	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	57670	KIAA1549	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	7275	TUB	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	24148	PRPF6	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	10461	MERTK	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	57709	SLC7A14	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	768206	PRCD	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	23370	ARHGEF18	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	5949	RBP3	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	6010	RHO	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	6010	RHO	OMIM:613731
HP:0030453	Abnormal visual electrophysiology	6100	RP9	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	10002	NR2E3	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	84140	FAM161A	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	55624	POMGNT1	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	79797	ZNF408	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	403	ARL3	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	5145	PDE6A	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	5145	PDE6A	OMIM:613810
HP:0030453	Abnormal visual electrophysiology	10210	TOPORS	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	10210	TOPORS	OMIM:609923
HP:0030453	Abnormal visual electrophysiology	8842	PROM1	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	9128	PRPF4	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	50939	IMPG2	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	57545	CC2D2A	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	8481	OFD1	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	2979	GUCA1B	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	1259	CNGA1	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	1258	CNGB1	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	1258	CNGB1	OMIM:613767
HP:0030453	Abnormal visual electrophysiology	60509	AGBL5	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	5961	PRPH2	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	5961	PRPH2	OMIM:608133
HP:0030453	Abnormal visual electrophysiology	388939	PCARE	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	388939	PCARE	OMIM:613428
HP:0030453	Abnormal visual electrophysiology	7439	BEST1	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	7439	BEST1	OMIM:153700
HP:0030453	Abnormal visual electrophysiology	7439	BEST1	OMIM:613194
HP:0030453	Abnormal visual electrophysiology	9785	DHX38	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	5995	RGR	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	9129	PRPF3	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	55975	KLHL7	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	3617	IMPG1	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	94137	RP1L1	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	5158	PDE6B	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	6102	RP2	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	55857	KIZ	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	64218	SEMA4A	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	4901	NRL	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	10594	PRPF8	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	6295	SAG	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	79947	DHDDS	ORPHA:791
HP:0030453	Abnormal visual electrophysiology	10681	GNB5	OMIM:617173
HP:0030453	Abnormal visual electrophysiology	10681	GNB5	ORPHA:542306
HP:0030453	Abnormal visual electrophysiology	23126	POGZ	OMIM:616364
HP:0030453	Abnormal visual electrophysiology	778	CACNA1F	ORPHA:178333
HP:0030453	Abnormal visual electrophysiology	55605	KIF21A	ORPHA:45358
HP:0030453	Abnormal visual electrophysiology	347733	TUBB2B	ORPHA:45358
HP:0030453	Abnormal visual electrophysiology	7846	TUBA1A	ORPHA:45358
HP:0030453	Abnormal visual electrophysiology	401	PHOX2A	ORPHA:45358
HP:0030453	Abnormal visual electrophysiology	10381	TUBB3	ORPHA:45358
HP:0030453	Abnormal visual electrophysiology	84570	COL25A1	ORPHA:45358
HP:0030453	Abnormal visual electrophysiology	4308	TRPM1	OMIM:613216
HP:0030453	Abnormal visual electrophysiology	51	ACOX1	ORPHA:2971
HP:0030453	Abnormal visual electrophysiology	63895	PIEZO2	OMIM:108145
HP:0030453	Abnormal visual electrophysiology	63895	PIEZO2	ORPHA:1154
HP:0030453	Abnormal visual electrophysiology	84277	DNAJC30	ORPHA:104
HP:0030453	Abnormal visual electrophysiology	4535	MT-ND1	ORPHA:104
HP:0030453	Abnormal visual electrophysiology	4536	MT-ND2	ORPHA:104
HP:0030453	Abnormal visual electrophysiology	4538	MT-ND4	ORPHA:104
HP:0030453	Abnormal visual electrophysiology	4720	NDUFS2	ORPHA:104
HP:0030453	Abnormal visual electrophysiology	4512	MT-CO1	ORPHA:104
HP:0030453	Abnormal visual electrophysiology	4514	MT-CO3	ORPHA:104
HP:0030453	Abnormal visual electrophysiology	4519	MT-CYB	ORPHA:104
HP:0030453	Abnormal visual electrophysiology	4508	MT-ATP6	ORPHA:104
HP:0030453	Abnormal visual electrophysiology	4540	MT-ND5	ORPHA:104
HP:0030453	Abnormal visual electrophysiology	4541	MT-ND6	ORPHA:104
HP:0030453	Abnormal visual electrophysiology	4539	MT-ND4L	ORPHA:104
HP:0030453	Abnormal visual electrophysiology	10283	CWC27	ORPHA:166035
HP:0030453	Abnormal visual electrophysiology	291	SLC25A4	ORPHA:1369
HP:0030453	Abnormal visual electrophysiology	26007	TKFC	ORPHA:1369
HP:0030453	Abnormal visual electrophysiology	55750	AGK	ORPHA:1369
HP:0030453	Abnormal visual electrophysiology	30813	VSX1	OMIM:614195
HP:0030453	Abnormal visual electrophysiology	1121	CHM	ORPHA:180
HP:0030453	Abnormal visual electrophysiology	374879	ZNF699	OMIM:619488
HP:0030453	Abnormal visual electrophysiology	726	CAPN5	OMIM:193235
HP:0030453	Abnormal visual electrophysiology	7078	TIMP3	OMIM:136900
HP:0030453	Abnormal visual electrophysiology	51741	WWOX	OMIM:616211
HP:0030453	Abnormal visual electrophysiology	5146	PDE6C	ORPHA:1871
HP:0030453	Abnormal visual electrophysiology	2780	GNAT2	ORPHA:1871
HP:0030453	Abnormal visual electrophysiology	54714	CNGB3	ORPHA:1871
HP:0030453	Abnormal visual electrophysiology	2978	GUCA1A	ORPHA:1871
HP:0030453	Abnormal visual electrophysiology	6742	SSBP1	OMIM:165510
HP:0030453	Abnormal visual electrophysiology	57192	MCOLN1	ORPHA:578
HP:0030453	Abnormal visual electrophysiology	22901	ARSG	ORPHA:231183
HP:0030453	Abnormal visual electrophysiology	4575	MT-TS2	ORPHA:231183
HP:0030453	Abnormal visual electrophysiology	3035	HARS1	ORPHA:231183
HP:0030453	Abnormal visual electrophysiology	84131	CEP78	ORPHA:231183
HP:0030453	Abnormal visual electrophysiology	5189	PEX1	OMIM:214100
HP:0030453	Abnormal visual electrophysiology	9731	CEP104	OMIM:616781
HP:0030453	Abnormal visual electrophysiology	10083	USH1C	OMIM:276900
HP:0030453	Abnormal visual electrophysiology	10083	USH1C	ORPHA:231169
HP:0030453	Abnormal visual electrophysiology	1678	TIMM8A	OMIM:304700
HP:0030453	Abnormal visual electrophysiology	3030	HADHA	ORPHA:5
HP:0030453	Abnormal visual electrophysiology	64072	CDH23	ORPHA:231169
HP:0030453	Abnormal visual electrophysiology	124590	USH1G	ORPHA:231169
HP:0030453	Abnormal visual electrophysiology	83715	ESPN	ORPHA:231169
HP:0030453	Abnormal visual electrophysiology	10518	CIB2	ORPHA:231169
HP:0030453	Abnormal visual electrophysiology	65217	PCDH15	ORPHA:231169
HP:0030453	Abnormal visual electrophysiology	54476	RNF216	ORPHA:1173
HP:0030453	Abnormal visual electrophysiology	10908	PNPLA6	ORPHA:1173
HP:0030453	Abnormal visual electrophysiology	2652	OPN1MW	ORPHA:16
HP:0030453	Abnormal visual electrophysiology	5956	OPN1LW	ORPHA:16
HP:0030453	Abnormal visual electrophysiology	23065	EMC1	OMIM:616875
HP:0030453	Abnormal visual electrophysiology	8803	SUCLA2	ORPHA:1933
HP:0030453	Abnormal visual electrophysiology	4854	NOTCH3	OMIM:125310
HP:0030453	Abnormal visual electrophysiology	5538	PPT1	OMIM:256730
HP:0030453	Abnormal visual electrophysiology	3295	HSD17B4	OMIM:261515
HP:0030453	Abnormal visual electrophysiology	2055	CLN8	ORPHA:1947
HP:0030453	Abnormal visual electrophysiology	23155	CLCC1	OMIM:609913
HP:0030453	Abnormal visual electrophysiology	5147	PDE6D	OMIM:615665
HP:0030453	Abnormal visual electrophysiology	1201	CLN3	OMIM:204200
HP:0030453	Abnormal visual electrophysiology	1200	TPP1	OMIM:204500
HP:0030453	Abnormal visual electrophysiology	28982	FLVCR1	OMIM:609033
HP:0030453	Abnormal visual electrophysiology	2074	ERCC6	OMIM:133540
HP:0030453	Abnormal visual electrophysiology	410	ARSA	ORPHA:309271
HP:0030453	Abnormal visual electrophysiology	410	ARSA	ORPHA:309256
HP:0030453	Abnormal visual electrophysiology	410	ARSA	ORPHA:309263
HP:0030453	Abnormal visual electrophysiology	5660	PSAP	ORPHA:309271
HP:0030453	Abnormal visual electrophysiology	5660	PSAP	ORPHA:309256
HP:0030453	Abnormal visual electrophysiology	5660	PSAP	ORPHA:206436
HP:0030453	Abnormal visual electrophysiology	5660	PSAP	ORPHA:309263
HP:0030453	Abnormal visual electrophysiology	7345	UCHL1	OMIM:615491
HP:0030453	Abnormal visual electrophysiology	51102	MECR	ORPHA:508093
HP:0030453	Abnormal visual electrophysiology	57165	GJC2	ORPHA:320401
HP:0030453	Abnormal visual electrophysiology	2395	FXN	OMIM:229300
HP:0030453	Abnormal visual electrophysiology	1593	CYP27A1	ORPHA:909
HP:0030453	Abnormal visual electrophysiology	6785	ELOVL4	ORPHA:827
HP:0030453	Abnormal visual electrophysiology	6785	ELOVL4	OMIM:614457
HP:0030453	Abnormal visual electrophysiology	11267	SNF8	OMIM:620784
HP:0030453	Abnormal visual electrophysiology	11267	SNF8	OMIM:620783
HP:0030453	Abnormal visual electrophysiology	5428	POLG	OMIM:203700
HP:0030453	Abnormal visual electrophysiology	79751	SLC25A22	OMIM:609304
HP:0030453	Abnormal visual electrophysiology	2581	GALC	ORPHA:206436
HP:0030453	Abnormal visual electrophysiology	2581	GALC	ORPHA:206443
HP:0030453	Abnormal visual electrophysiology	8398	PLA2G6	ORPHA:35069
HP:0030453	Abnormal visual electrophysiology	8398	PLA2G6	OMIM:256600
HP:0030453	Abnormal visual electrophysiology	22930	RAB3GAP1	ORPHA:2510
HP:0030453	Abnormal visual electrophysiology	25782	RAB3GAP2	ORPHA:2510
HP:0030453	Abnormal visual electrophysiology	22931	RAB18	ORPHA:2510
HP:0030453	Abnormal visual electrophysiology	128637	TBC1D20	ORPHA:2510
HP:0030453	Abnormal visual electrophysiology	8086	AAAS	OMIM:231550
HP:0030453	Abnormal visual electrophysiology	10312	TCIRG1	ORPHA:667
HP:0030453	Abnormal visual electrophysiology	1186	CLCN7	ORPHA:667
HP:0030453	Abnormal visual electrophysiology	29887	SNX10	ORPHA:667
HP:0030453	Abnormal visual electrophysiology	8600	TNFSF11	ORPHA:667
HP:0030453	Abnormal visual electrophysiology	7274	TTPA	ORPHA:96
HP:0030453	Abnormal visual electrophysiology	10397	NDRG1	OMIM:601455
HP:0030453	Abnormal visual electrophysiology	56947	MFF	ORPHA:485421
HP:0030453	Abnormal visual electrophysiology	9181	ARHGEF2	OMIM:617523
HP:0030453	Abnormal visual electrophysiology	7841	MOGS	ORPHA:79330
HP:0030453	Abnormal visual electrophysiology	7299	TYR	ORPHA:79431
HP:0030453	Abnormal visual electrophysiology	1161	ERCC8	OMIM:216400
HP:0030453	Abnormal visual electrophysiology	9927	MFN2	OMIM:601152
HP:0030453	Abnormal visual electrophysiology	3908	LAMA2	ORPHA:258
HP:0030453	Abnormal visual electrophysiology	4976	OPA1	ORPHA:1215
HP:0030453	Abnormal visual electrophysiology	10195	ALG3	OMIM:601110
HP:0030453	Abnormal visual electrophysiology	3423	IDS	ORPHA:217085
HP:0030453	Abnormal visual electrophysiology	3423	IDS	ORPHA:217093
HP:0030453	Abnormal visual electrophysiology	285440	CYP4V2	ORPHA:41751
HP:0030453	Abnormal visual electrophysiology	9215	LARGE1	OMIM:608840
HP:0030453	Abnormal visual electrophysiology	23636	NUP62	ORPHA:225154
HP:0030453	Abnormal visual electrophysiology	53371	NUP54	ORPHA:225154
HP:0030453	Abnormal visual electrophysiology	103	ADAR	ORPHA:225154
HP:0030453	Abnormal visual electrophysiology	3708	ITPR1	OMIM:206700
HP:0030453	Abnormal visual electrophysiology	6310	ATXN1	ORPHA:98755
HP:0030453	Abnormal visual electrophysiology	51109	RDH11	ORPHA:436245
HP:0030453	Abnormal visual electrophysiology	4724	NDUFS4	OMIM:252010
HP:0030453	Abnormal visual electrophysiology	1340	COX6B1	OMIM:619051
HP:0030453	Abnormal visual electrophysiology	5631	PRPS1	ORPHA:423479
HP:0030453	Abnormal visual electrophysiology	478	ATP1A3	OMIM:601338
HP:0030453	Abnormal visual electrophysiology	9326	ZNHIT3	OMIM:260565
HP:0030453	Abnormal visual electrophysiology	9526	MPDU1	ORPHA:79323
HP:0030453	Abnormal visual electrophysiology	28962	OSTM1	OMIM:259720
HP:0030453	Abnormal visual electrophysiology	611	OPN1SW	OMIM:190900
HP:0030453	Abnormal visual electrophysiology	5959	RDH5	ORPHA:52427
HP:0030453	Abnormal visual electrophysiology	83552	MFRP	OMIM:611040
HP:0030453	Abnormal visual electrophysiology	4287	ATXN3	OMIM:109150
HP:0030453	Abnormal visual electrophysiology	80208	SPG11	ORPHA:2822
HP:0030453	Abnormal visual electrophysiology	10059	DNM1L	OMIM:610708
HP:0030453	Abnormal visual electrophysiology	5149	PDE6H	ORPHA:49382
HP:0030453	Abnormal visual electrophysiology	22926	ATF6	ORPHA:1872
HP:0030453	Abnormal visual electrophysiology	84839	RAX2	ORPHA:1872
HP:0030453	Abnormal visual electrophysiology	1261	CNGA3	ORPHA:1872
HP:0030453	Abnormal visual electrophysiology	755	CFAP410	ORPHA:1872
HP:0030453	Abnormal visual electrophysiology	8754	ADAM9	ORPHA:1872
HP:0030453	Abnormal visual electrophysiology	22999	RIMS1	ORPHA:1872
HP:0030453	Abnormal visual electrophysiology	128338	DRAM2	ORPHA:1872
HP:0030453	Abnormal visual electrophysiology	9094	UNC119	ORPHA:1872
HP:0030453	Abnormal visual electrophysiology	93589	CACNA2D4	ORPHA:1872
HP:0030453	Abnormal visual electrophysiology	282809	POC1B	ORPHA:1872
HP:0030453	Abnormal visual electrophysiology	83394	PITPNM3	ORPHA:1872
HP:0030453	Abnormal visual electrophysiology	23093	TTLL5	ORPHA:1872
HP:0030453	Abnormal visual electrophysiology	83723	TLCD3B	ORPHA:1872
HP:0030453	Abnormal visual electrophysiology	9364	RAB28	ORPHA:1872
HP:0030453	Abnormal visual electrophysiology	5080	PAX6	ORPHA:250923
HP:0030453	Abnormal visual electrophysiology	2296	FOXC1	ORPHA:250923
HP:0030453	Abnormal visual electrophysiology	54765	TRIM44	ORPHA:250923
HP:0030453	Abnormal visual electrophysiology	57010	CABP4	ORPHA:215
HP:0030453	Abnormal visual electrophysiology	345193	LRIT3	ORPHA:215
HP:0030453	Abnormal visual electrophysiology	2916	GRM6	ORPHA:215
HP:0030453	Abnormal visual electrophysiology	440435	GPR179	ORPHA:215
HP:0030453	Abnormal visual electrophysiology	6011	GRK1	ORPHA:215
HP:0030453	Abnormal visual electrophysiology	9187	SLC24A1	ORPHA:215
HP:0030453	Abnormal visual electrophysiology	2784	GNB3	ORPHA:215
HP:0030453	Abnormal visual electrophysiology	2779	GNAT1	ORPHA:215
HP:0030453	Abnormal visual electrophysiology	60506	NYX	ORPHA:215
HP:0030453	Abnormal visual electrophysiology	9371	KIF3B	OMIM:618955
HP:0030453	Abnormal visual electrophysiology	5193	PEX12	OMIM:266510
HP:0030451	Mesenteric cyst	3110	MNX1	ORPHA:1552
HP:0030451	Mesenteric cyst	9772	TMEM94	OMIM:618316
HP:0030469	Abnormal dark-adapted electroretinogram	6247	RS1	ORPHA:792
HP:0030469	Abnormal dark-adapted electroretinogram	6247	RS1	OMIM:312700
HP:0030469	Abnormal dark-adapted electroretinogram	24	ABCA4	OMIM:604116
HP:0030469	Abnormal dark-adapted electroretinogram	6017	RLBP1	ORPHA:85128
HP:0030469	Abnormal dark-adapted electroretinogram	4308	TRPM1	ORPHA:215
HP:0030469	Abnormal dark-adapted electroretinogram	57010	CABP4	ORPHA:215
HP:0030469	Abnormal dark-adapted electroretinogram	345193	LRIT3	ORPHA:215
HP:0030469	Abnormal dark-adapted electroretinogram	93589	CACNA2D4	ORPHA:215
HP:0030469	Abnormal dark-adapted electroretinogram	2916	GRM6	ORPHA:215
HP:0030469	Abnormal dark-adapted electroretinogram	5158	PDE6B	ORPHA:215
HP:0030469	Abnormal dark-adapted electroretinogram	440435	GPR179	ORPHA:215
HP:0030469	Abnormal dark-adapted electroretinogram	6011	GRK1	ORPHA:215
HP:0030469	Abnormal dark-adapted electroretinogram	778	CACNA1F	ORPHA:215
HP:0030469	Abnormal dark-adapted electroretinogram	6010	RHO	ORPHA:215
HP:0030469	Abnormal dark-adapted electroretinogram	9187	SLC24A1	ORPHA:215
HP:0030469	Abnormal dark-adapted electroretinogram	6295	SAG	ORPHA:215
HP:0030469	Abnormal dark-adapted electroretinogram	2784	GNB3	ORPHA:215
HP:0030469	Abnormal dark-adapted electroretinogram	2779	GNAT1	ORPHA:215
HP:0030469	Abnormal dark-adapted electroretinogram	60506	NYX	ORPHA:215
HP:0030469	Abnormal dark-adapted electroretinogram	157657	CFAP418	OMIM:617406
HP:0030468	Abnormal multifocal electroretinogram	94137	RP1L1	OMIM:613587
HP:0030468	Abnormal multifocal electroretinogram	5080	PAX6	ORPHA:250923
HP:0030468	Abnormal multifocal electroretinogram	2296	FOXC1	ORPHA:250923
HP:0030468	Abnormal multifocal electroretinogram	54765	TRIM44	ORPHA:250923
HP:0030468	Abnormal multifocal electroretinogram	92840	REEP6	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	6094	ROM1	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	6017	RLBP1	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	7401	CLRN1	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	24	ABCA4	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	130557	ZNF513	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	582	BBS1	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	92211	CDHR1	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	23568	ARL2BP	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	6121	RPE65	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	54806	AHI1	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	6101	RP1	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	3419	IDH3A	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	4751	NEK2	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	346007	EYS	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	8100	IFT88	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	23020	SNRNP200	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	762	CA4	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	138050	HGSNAT	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	196	AHR	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	3614	IMPDH1	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	123016	TTC8	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	6103	RPGR	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	1406	CRX	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	5148	PDE6G	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	26160	IFT172	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	26121	PRPF31	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	583	BBS2	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	4117	MAK	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	25794	FSCN2	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	375298	CERKL	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	3420	IDH3B	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	57670	KIAA1549	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	7275	TUB	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	24148	PRPF6	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	23418	CRB1	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	10461	MERTK	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	57709	SLC7A14	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	768206	PRCD	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	7399	USH2A	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	23370	ARHGEF18	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	5949	RBP3	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	6010	RHO	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	6100	RP9	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	10002	NR2E3	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	9227	LRAT	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	84140	FAM161A	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	55812	SPATA7	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	55624	POMGNT1	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	79797	ZNF408	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	403	ARL3	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	5145	PDE6A	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	10210	TOPORS	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	8842	PROM1	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	9128	PRPF4	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	145226	RDH12	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	50939	IMPG2	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	57545	CC2D2A	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	8481	OFD1	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	49855	SCAPER	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	9742	IFT140	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	2979	GUCA1B	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	1259	CNGA1	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	1258	CNGB1	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	60509	AGBL5	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	5961	PRPH2	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	388939	PCARE	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	7439	BEST1	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	9785	DHX38	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	7287	TULP1	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	5995	RGR	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	9129	PRPF3	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	55975	KLHL7	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	3617	IMPG1	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	5158	PDE6B	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	6102	RP2	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	55857	KIZ	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	64218	SEMA4A	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	4901	NRL	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	157657	CFAP418	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	10594	PRPF8	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	84100	ARL6	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	6295	SAG	ORPHA:791
HP:0030468	Abnormal multifocal electroretinogram	79947	DHDDS	ORPHA:791
HP:0030467	Abnormal pattern electroretinogram	83723	TLCD3B	OMIM:619531
HP:0030467	Abnormal pattern electroretinogram	23093	TTLL5	OMIM:615860
HP:0030466	Abnormal full-field electroretinogram	51	ACOX1	OMIM:264470
HP:0030466	Abnormal full-field electroretinogram	10195	ALG3	OMIM:601110
HP:0030466	Abnormal full-field electroretinogram	5538	PPT1	OMIM:256730
HP:0030466	Abnormal full-field electroretinogram	3423	IDS	ORPHA:217085
HP:0030466	Abnormal full-field electroretinogram	3423	IDS	ORPHA:217093
HP:0030466	Abnormal full-field electroretinogram	285440	CYP4V2	ORPHA:41751
HP:0030466	Abnormal full-field electroretinogram	9215	LARGE1	OMIM:608840
HP:0030466	Abnormal full-field electroretinogram	57192	MCOLN1	OMIM:252650
HP:0030466	Abnormal full-field electroretinogram	4508	MT-ATP6	ORPHA:225154
HP:0030466	Abnormal full-field electroretinogram	23636	NUP62	ORPHA:225154
HP:0030466	Abnormal full-field electroretinogram	53371	NUP54	ORPHA:225154
HP:0030466	Abnormal full-field electroretinogram	103	ADAR	ORPHA:225154
HP:0030466	Abnormal full-field electroretinogram	6247	RS1	ORPHA:792
HP:0030466	Abnormal full-field electroretinogram	6247	RS1	OMIM:312700
HP:0030466	Abnormal full-field electroretinogram	611	OPN1SW	OMIM:190900
HP:0030466	Abnormal full-field electroretinogram	5959	RDH5	ORPHA:52427
HP:0030466	Abnormal full-field electroretinogram	83552	MFRP	OMIM:611040
HP:0030466	Abnormal full-field electroretinogram	5146	PDE6C	ORPHA:49382
HP:0030466	Abnormal full-field electroretinogram	5146	PDE6C	OMIM:613093
HP:0030466	Abnormal full-field electroretinogram	5149	PDE6H	ORPHA:49382
HP:0030466	Abnormal full-field electroretinogram	2780	GNAT2	ORPHA:49382
HP:0030466	Abnormal full-field electroretinogram	54714	CNGB3	ORPHA:49382
HP:0030466	Abnormal full-field electroretinogram	8842	PROM1	ORPHA:1872
HP:0030466	Abnormal full-field electroretinogram	8842	PROM1	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	22926	ATF6	ORPHA:1872
HP:0030466	Abnormal full-field electroretinogram	64802	NMNAT1	ORPHA:1872
HP:0030466	Abnormal full-field electroretinogram	64802	NMNAT1	ORPHA:65
HP:0030466	Abnormal full-field electroretinogram	84839	RAX2	ORPHA:1872
HP:0030466	Abnormal full-field electroretinogram	57096	RPGRIP1	ORPHA:1872
HP:0030466	Abnormal full-field electroretinogram	57096	RPGRIP1	ORPHA:65
HP:0030466	Abnormal full-field electroretinogram	24	ABCA4	ORPHA:1872
HP:0030466	Abnormal full-field electroretinogram	24	ABCA4	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	1261	CNGA3	ORPHA:1872
HP:0030466	Abnormal full-field electroretinogram	92211	CDHR1	ORPHA:1872
HP:0030466	Abnormal full-field electroretinogram	92211	CDHR1	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	5956	OPN1LW	ORPHA:1872
HP:0030466	Abnormal full-field electroretinogram	5961	PRPH2	ORPHA:1872
HP:0030466	Abnormal full-field electroretinogram	5961	PRPH2	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	755	CFAP410	ORPHA:1872
HP:0030466	Abnormal full-field electroretinogram	778	CACNA1F	ORPHA:1872
HP:0030466	Abnormal full-field electroretinogram	8754	ADAM9	ORPHA:1872
HP:0030466	Abnormal full-field electroretinogram	3000	GUCY2D	ORPHA:1872
HP:0030466	Abnormal full-field electroretinogram	3000	GUCY2D	ORPHA:65
HP:0030466	Abnormal full-field electroretinogram	22999	RIMS1	ORPHA:1872
HP:0030466	Abnormal full-field electroretinogram	128338	DRAM2	ORPHA:1872
HP:0030466	Abnormal full-field electroretinogram	6103	RPGR	ORPHA:1872
HP:0030466	Abnormal full-field electroretinogram	6103	RPGR	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	2652	OPN1MW	ORPHA:1872
HP:0030466	Abnormal full-field electroretinogram	1406	CRX	ORPHA:1872
HP:0030466	Abnormal full-field electroretinogram	1406	CRX	ORPHA:65
HP:0030466	Abnormal full-field electroretinogram	1406	CRX	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	9094	UNC119	ORPHA:1872
HP:0030466	Abnormal full-field electroretinogram	93589	CACNA2D4	ORPHA:1872
HP:0030466	Abnormal full-field electroretinogram	2978	GUCA1A	ORPHA:1872
HP:0030466	Abnormal full-field electroretinogram	282809	POC1B	ORPHA:1872
HP:0030466	Abnormal full-field electroretinogram	64218	SEMA4A	ORPHA:1872
HP:0030466	Abnormal full-field electroretinogram	64218	SEMA4A	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	83394	PITPNM3	ORPHA:1872
HP:0030466	Abnormal full-field electroretinogram	23093	TTLL5	ORPHA:1872
HP:0030466	Abnormal full-field electroretinogram	83723	TLCD3B	ORPHA:1872
HP:0030466	Abnormal full-field electroretinogram	157657	CFAP418	ORPHA:1872
HP:0030466	Abnormal full-field electroretinogram	157657	CFAP418	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	23746	AIPL1	ORPHA:1872
HP:0030466	Abnormal full-field electroretinogram	23746	AIPL1	ORPHA:65
HP:0030466	Abnormal full-field electroretinogram	9364	RAB28	ORPHA:1872
HP:0030466	Abnormal full-field electroretinogram	94137	RP1L1	OMIM:613587
HP:0030466	Abnormal full-field electroretinogram	94137	RP1L1	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	3769	KCNJ13	ORPHA:65
HP:0030466	Abnormal full-field electroretinogram	343035	RD3	ORPHA:65
HP:0030466	Abnormal full-field electroretinogram	145226	RDH12	ORPHA:65
HP:0030466	Abnormal full-field electroretinogram	145226	RDH12	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	80184	CEP290	ORPHA:65
HP:0030466	Abnormal full-field electroretinogram	10383	TUBB4B	ORPHA:65
HP:0030466	Abnormal full-field electroretinogram	9742	IFT140	ORPHA:65
HP:0030466	Abnormal full-field electroretinogram	9742	IFT140	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	85015	USP45	ORPHA:65
HP:0030466	Abnormal full-field electroretinogram	6121	RPE65	ORPHA:65
HP:0030466	Abnormal full-field electroretinogram	6121	RPE65	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	23418	CRB1	ORPHA:65
HP:0030466	Abnormal full-field electroretinogram	23418	CRB1	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	5130	PCYT1A	ORPHA:65
HP:0030466	Abnormal full-field electroretinogram	9657	IQCB1	ORPHA:65
HP:0030466	Abnormal full-field electroretinogram	392255	GDF6	ORPHA:65
HP:0030466	Abnormal full-field electroretinogram	9227	LRAT	ORPHA:65
HP:0030466	Abnormal full-field electroretinogram	9227	LRAT	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	55812	SPATA7	ORPHA:65
HP:0030466	Abnormal full-field electroretinogram	55812	SPATA7	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	7287	TULP1	ORPHA:65
HP:0030466	Abnormal full-field electroretinogram	7287	TULP1	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	167691	LCA5	ORPHA:65
HP:0030466	Abnormal full-field electroretinogram	3614	IMPDH1	ORPHA:65
HP:0030466	Abnormal full-field electroretinogram	3614	IMPDH1	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	92840	REEP6	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	6094	ROM1	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	6017	RLBP1	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	7401	CLRN1	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	130557	ZNF513	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	582	BBS1	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	23568	ARL2BP	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	54806	AHI1	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	6101	RP1	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	3419	IDH3A	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	4751	NEK2	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	346007	EYS	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	8100	IFT88	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	23020	SNRNP200	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	762	CA4	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	138050	HGSNAT	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	196	AHR	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	123016	TTC8	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	5148	PDE6G	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	26160	IFT172	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	26121	PRPF31	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	583	BBS2	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	4117	MAK	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	25794	FSCN2	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	375298	CERKL	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	3420	IDH3B	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	57670	KIAA1549	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	7275	TUB	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	24148	PRPF6	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	10461	MERTK	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	57709	SLC7A14	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	768206	PRCD	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	7399	USH2A	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	23370	ARHGEF18	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	5949	RBP3	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	6010	RHO	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	6100	RP9	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	10002	NR2E3	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	84140	FAM161A	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	55624	POMGNT1	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	79797	ZNF408	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	403	ARL3	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	5145	PDE6A	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	10210	TOPORS	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	9128	PRPF4	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	50939	IMPG2	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	57545	CC2D2A	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	8481	OFD1	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	49855	SCAPER	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	2979	GUCA1B	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	1259	CNGA1	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	1258	CNGB1	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	60509	AGBL5	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	388939	PCARE	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	7439	BEST1	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	9785	DHX38	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	5995	RGR	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	9129	PRPF3	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	55975	KLHL7	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	3617	IMPG1	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	5158	PDE6B	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	6102	RP2	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	55857	KIZ	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	4901	NRL	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	10594	PRPF8	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	84100	ARL6	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	6295	SAG	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	79947	DHDDS	ORPHA:791
HP:0030466	Abnormal full-field electroretinogram	5080	PAX6	ORPHA:250923
HP:0030466	Abnormal full-field electroretinogram	2296	FOXC1	ORPHA:250923
HP:0030466	Abnormal full-field electroretinogram	54765	TRIM44	ORPHA:250923
HP:0030466	Abnormal full-field electroretinogram	4308	TRPM1	ORPHA:215
HP:0030466	Abnormal full-field electroretinogram	57010	CABP4	ORPHA:215
HP:0030466	Abnormal full-field electroretinogram	345193	LRIT3	ORPHA:215
HP:0030466	Abnormal full-field electroretinogram	2916	GRM6	ORPHA:215
HP:0030466	Abnormal full-field electroretinogram	440435	GPR179	ORPHA:215
HP:0030466	Abnormal full-field electroretinogram	6011	GRK1	ORPHA:215
HP:0030466	Abnormal full-field electroretinogram	9187	SLC24A1	ORPHA:215
HP:0030466	Abnormal full-field electroretinogram	2784	GNB3	ORPHA:215
HP:0030466	Abnormal full-field electroretinogram	2779	GNAT1	ORPHA:215
HP:0030466	Abnormal full-field electroretinogram	60506	NYX	ORPHA:215
HP:0030466	Abnormal full-field electroretinogram	9371	KIF3B	OMIM:618955
HP:0030466	Abnormal full-field electroretinogram	5193	PEX12	OMIM:266510
HP:0030465	Undetectable light-adapted electroretinogram	22926	ATF6	ORPHA:49382
HP:0030465	Undetectable light-adapted electroretinogram	5146	PDE6C	ORPHA:49382
HP:0030465	Undetectable light-adapted electroretinogram	5146	PDE6C	OMIM:613093
HP:0030465	Undetectable light-adapted electroretinogram	6103	RPGR	ORPHA:49382
HP:0030465	Undetectable light-adapted electroretinogram	5149	PDE6H	ORPHA:49382
HP:0030465	Undetectable light-adapted electroretinogram	2780	GNAT2	ORPHA:49382
HP:0030465	Undetectable light-adapted electroretinogram	1261	CNGA3	ORPHA:49382
HP:0030465	Undetectable light-adapted electroretinogram	1261	CNGA3	OMIM:216900
HP:0030465	Undetectable light-adapted electroretinogram	54714	CNGB3	ORPHA:49382
HP:0030462	Abnormal amplitude of flash visual evoked potentials	55624	POMGNT1	OMIM:253280
HP:0000533	Chorioretinal atrophy	346007	EYS	OMIM:602772
HP:0000533	Chorioretinal atrophy	4693	NDP	ORPHA:891
HP:0000533	Chorioretinal atrophy	1499	CTNNB1	ORPHA:891
HP:0000533	Chorioretinal atrophy	23554	TSPAN12	ORPHA:891
HP:0000533	Chorioretinal atrophy	4041	LRP5	ORPHA:891
HP:0000533	Chorioretinal atrophy	79797	ZNF408	ORPHA:891
HP:0000533	Chorioretinal atrophy	79797	ZNF408	OMIM:616468
HP:0000533	Chorioretinal atrophy	8322	FZD4	ORPHA:891
HP:0000533	Chorioretinal atrophy	25794	FSCN2	OMIM:607921
HP:0000533	Chorioretinal atrophy	1121	CHM	OMIM:303100
HP:0000533	Chorioretinal atrophy	1121	CHM	ORPHA:180
HP:0000533	Chorioretinal atrophy	1181	CLCN2	OMIM:615651
HP:0000533	Chorioretinal atrophy	4901	NRL	OMIM:613750
HP:0000533	Chorioretinal atrophy	54820	NDE1	ORPHA:2177
HP:0000533	Chorioretinal atrophy	23418	CRB1	OMIM:613835
HP:0000533	Chorioretinal atrophy	6295	SAG	OMIM:613758
HP:0000533	Chorioretinal atrophy	3000	GUCY2D	OMIM:215500
HP:0000533	Chorioretinal atrophy	3000	GUCY2D	OMIM:601777
HP:0000533	Chorioretinal atrophy	3000	GUCY2D	ORPHA:75377
HP:0000533	Chorioretinal atrophy	4942	OAT	OMIM:258870
HP:0000533	Chorioretinal atrophy	4942	OAT	ORPHA:414
HP:0000533	Chorioretinal atrophy	3166	HMX1	OMIM:612109
HP:0000533	Chorioretinal atrophy	1406	CRX	OMIM:120970
HP:0000533	Chorioretinal atrophy	6094	ROM1	OMIM:608133
HP:0000533	Chorioretinal atrophy	5961	PRPH2	OMIM:608133
HP:0000533	Chorioretinal atrophy	5961	PRPH2	OMIM:613105
HP:0000533	Chorioretinal atrophy	5961	PRPH2	ORPHA:75377
HP:0000533	Chorioretinal atrophy	5076	PAX2	OMIM:120330
HP:0000533	Chorioretinal atrophy	285440	CYP4V2	OMIM:210370
HP:0000533	Chorioretinal atrophy	80781	COL18A1	OMIM:267750
HP:0000533	Chorioretinal atrophy	10908	PNPLA6	OMIM:215470
HP:0000533	Chorioretinal atrophy	10908	PNPLA6	OMIM:245800
HP:0000533	Chorioretinal atrophy	10908	PNPLA6	OMIM:275400
HP:0000533	Chorioretinal atrophy	3030	HADHA	ORPHA:5
HP:0000533	Chorioretinal atrophy	9227	LRAT	ORPHA:364055
HP:0000533	Chorioretinal atrophy	55812	SPATA7	ORPHA:364055
HP:0000533	Chorioretinal atrophy	6121	RPE65	ORPHA:364055
HP:0000533	Chorioretinal atrophy	6121	RPE65	OMIM:618697
HP:0000533	Chorioretinal atrophy	167691	LCA5	ORPHA:364055
HP:0000533	Chorioretinal atrophy	3845	KRAS	OMIM:600268
HP:0000533	Chorioretinal atrophy	100147744	RNU7-1	OMIM:619487
HP:0000533	Chorioretinal atrophy	114902	C1QTNF5	ORPHA:67042
HP:0000533	Chorioretinal atrophy	7078	TIMP3	OMIM:136900
HP:0000533	Chorioretinal atrophy	7078	TIMP3	ORPHA:59181
HP:0000533	Chorioretinal atrophy	182	JAG1	OMIM:118450
HP:0000533	Chorioretinal atrophy	57096	RPGRIP1	OMIM:613826
HP:0000533	Chorioretinal atrophy	1462	VCAN	OMIM:143200
HP:0000533	Chorioretinal atrophy	2978	GUCA1A	ORPHA:75377
HP:0000533	Chorioretinal atrophy	10166	SLC25A15	ORPHA:415
HP:0000533	Chorioretinal atrophy	10166	SLC25A15	OMIM:238970
HP:0000533	Chorioretinal atrophy	2202	EFEMP1	ORPHA:75376
HP:0000533	Chorioretinal atrophy	3075	CFH	ORPHA:75376
HP:0000533	Chorioretinal atrophy	3426	CFI	ORPHA:75376
HP:0000533	Chorioretinal atrophy	7003	TEAD1	OMIM:108985
HP:0000533	Chorioretinal atrophy	94	ACVRL1	OMIM:600376
HP:0000533	Chorioretinal atrophy	1001	CDH3	OMIM:601553
HP:0001151	Impaired horizontal smooth pursuit	5981	RFC1	OMIM:614575
HP:0001151	Impaired horizontal smooth pursuit	4287	ATXN3	OMIM:109150
HP:0001151	Impaired horizontal smooth pursuit	1938	EEF2	OMIM:609306
HP:0001151	Impaired horizontal smooth pursuit	1938	EEF2	ORPHA:101112
HP:0001151	Impaired horizontal smooth pursuit	55703	POLR3B	OMIM:614381
HP:0001151	Impaired horizontal smooth pursuit	6310	ATXN1	OMIM:164400
HP:0001151	Impaired horizontal smooth pursuit	6311	ATXN2	OMIM:183090
HP:0001151	Impaired horizontal smooth pursuit	6812	STXBP1	OMIM:612164
HP:0001152	Saccadic smooth pursuit	1200	TPP1	ORPHA:284324
HP:0001152	Saccadic smooth pursuit	1200	TPP1	OMIM:609270
HP:0001152	Saccadic smooth pursuit	55129	ANO10	ORPHA:284289
HP:0001152	Saccadic smooth pursuit	8913	CACNA1G	ORPHA:458803
HP:0001152	Saccadic smooth pursuit	8913	CACNA1G	OMIM:616795
HP:0001152	Saccadic smooth pursuit	10273	STUB1	ORPHA:412057
HP:0001152	Saccadic smooth pursuit	7515	XRCC1	OMIM:617633
HP:0001152	Saccadic smooth pursuit	23533	PIK3R5	ORPHA:64753
HP:0001152	Saccadic smooth pursuit	23064	SETX	ORPHA:64753
HP:0001152	Saccadic smooth pursuit	23064	SETX	OMIM:606002
HP:0001152	Saccadic smooth pursuit	57679	ALS2	OMIM:606353
HP:0001152	Saccadic smooth pursuit	7345	UCHL1	OMIM:620221
HP:0001152	Saccadic smooth pursuit	3752	KCND3	OMIM:607346
HP:0001152	Saccadic smooth pursuit	23203	PMPCA	OMIM:213200
HP:0001152	Saccadic smooth pursuit	57410	SCYL1	ORPHA:466794
HP:0001152	Saccadic smooth pursuit	5582	PRKCG	ORPHA:98763
HP:0001152	Saccadic smooth pursuit	773	CACNA1A	OMIM:108500
HP:0001152	Saccadic smooth pursuit	1822	ATN1	ORPHA:101
HP:0001152	Saccadic smooth pursuit	2332	FMR1	OMIM:300623
HP:0001152	Saccadic smooth pursuit	81790	RNF170	OMIM:619686
HP:0001152	Saccadic smooth pursuit	10935	PRDX3	OMIM:619862
HP:0001152	Saccadic smooth pursuit	23503	ZFYVE26	ORPHA:100996
HP:0001152	Saccadic smooth pursuit	54664	TMEM106B	OMIM:617964
HP:0001152	Saccadic smooth pursuit	80208	SPG11	ORPHA:2822
HP:0001152	Saccadic smooth pursuit	5981	RFC1	OMIM:614575
HP:0001152	Saccadic smooth pursuit	2705	GJB1	ORPHA:1175
HP:0001152	Saccadic smooth pursuit	492	ATP2B3	ORPHA:314978
HP:0001152	Saccadic smooth pursuit	9711	RUBCN	OMIM:615705
HP:0001152	Saccadic smooth pursuit	9711	RUBCN	ORPHA:404499
HP:0001152	Saccadic smooth pursuit	339453	TMEM240	OMIM:607454
HP:0001153	Septate vagina	8195	MKKS	OMIM:236700
HP:0001153	Septate vagina	8626	TP63	OMIM:604292
HP:0001153	Septate vagina	9839	ZEB2	ORPHA:261537
HP:0001153	Septate vagina	9839	ZEB2	ORPHA:261552
HP:0001153	Septate vagina	1717	DHCR7	OMIM:270400
HP:0001153	Septate vagina	7490	WT1	OMIM:608978
HP:0001153	Septate vagina	7490	WT1	OMIM:194080
HP:0001153	Septate vagina	197131	UBR1	OMIM:243800
HP:0001153	Septate vagina	54880	BCOR	OMIM:300166
HP:0001153	Septate vagina	2625	GATA3	ORPHA:2237
HP:0001153	Septate vagina	2625	GATA3	OMIM:146255
HP:0001153	Septate vagina	92002	CCNQ	OMIM:300707
HP:0001153	Septate vagina	3110	MNX1	ORPHA:1552
HP:0001153	Septate vagina	3110	MNX1	OMIM:176450
HP:0001153	Septate vagina	27152	INTU	OMIM:617925
HP:0001153	Septate vagina	3209	HOXA13	OMIM:140000
HP:0000013	Hypoplasia of the uterus	668	FOXL2	OMIM:110100
HP:0000013	Hypoplasia of the uterus	668	FOXL2	ORPHA:572333
HP:0000013	Hypoplasia of the uterus	668	FOXL2	OMIM:608996
HP:0000013	Hypoplasia of the uterus	128	ADH5	OMIM:619151
HP:0000013	Hypoplasia of the uterus	2260	FGFR1	ORPHA:432
HP:0000013	Hypoplasia of the uterus	81848	SPRY4	ORPHA:432
HP:0000013	Hypoplasia of the uterus	128674	PROKR2	ORPHA:432
HP:0000013	Hypoplasia of the uterus	2253	FGF8	ORPHA:432
HP:0000013	Hypoplasia of the uterus	60675	PROK2	ORPHA:432
HP:0000013	Hypoplasia of the uterus	55636	CHD7	ORPHA:432
HP:0000013	Hypoplasia of the uterus	6870	TACR3	ORPHA:432
HP:0000013	Hypoplasia of the uterus	1848	DUSP6	ORPHA:432
HP:0000013	Hypoplasia of the uterus	26012	NSMF	ORPHA:432
HP:0000013	Hypoplasia of the uterus	55717	WDR11	ORPHA:432
HP:0000013	Hypoplasia of the uterus	4808	NHLH2	ORPHA:432
HP:0000013	Hypoplasia of the uterus	9394	HS6ST1	ORPHA:432
HP:0000013	Hypoplasia of the uterus	2796	GNRH1	ORPHA:432
HP:0000013	Hypoplasia of the uterus	2796	GNRH1	OMIM:614841
HP:0000013	Hypoplasia of the uterus	2798	GNRHR	ORPHA:432
HP:0000013	Hypoplasia of the uterus	84634	KISS1R	ORPHA:432
HP:0000013	Hypoplasia of the uterus	84634	KISS1R	OMIM:614837
HP:0000013	Hypoplasia of the uterus	6866	TAC3	ORPHA:432
HP:0000013	Hypoplasia of the uterus	8822	FGF17	ORPHA:432
HP:0000013	Hypoplasia of the uterus	3814	KISS1	ORPHA:432
HP:0000013	Hypoplasia of the uterus	3814	KISS1	OMIM:614842
HP:0000013	Hypoplasia of the uterus	5447	POR	OMIM:201750
HP:0000013	Hypoplasia of the uterus	402381	SOHLH1	OMIM:617690
HP:0000013	Hypoplasia of the uterus	9210	BMP15	OMIM:300510
HP:0000013	Hypoplasia of the uterus	54539	NDUFB11	OMIM:309801
HP:0000013	Hypoplasia of the uterus	1349	COX7B	OMIM:309801
HP:0000013	Hypoplasia of the uterus	3052	HCCS	OMIM:309801
HP:0000013	Hypoplasia of the uterus	145173	B3GLCT	OMIM:261540
HP:0000013	Hypoplasia of the uterus	145173	B3GLCT	ORPHA:709
HP:0000013	Hypoplasia of the uterus	54361	WNT4	ORPHA:247768
HP:0000013	Hypoplasia of the uterus	2516	NR5A1	OMIM:612964
HP:0000013	Hypoplasia of the uterus	2516	NR5A1	OMIM:612965
HP:0000013	Hypoplasia of the uterus	64220	STRA6	OMIM:601186
HP:0000013	Hypoplasia of the uterus	2099	ESR1	ORPHA:785
HP:0000013	Hypoplasia of the uterus	2099	ESR1	OMIM:615363
HP:0000013	Hypoplasia of the uterus	317761	C14orf39	OMIM:619203
HP:0000013	Hypoplasia of the uterus	1584	CYP11B1	OMIM:202010
HP:0000013	Hypoplasia of the uterus	3664	IRF6	OMIM:119500
HP:0000013	Hypoplasia of the uterus	57122	NUP107	OMIM:618078
HP:0000013	Hypoplasia of the uterus	1528	CYB5A	ORPHA:90796
HP:0000013	Hypoplasia of the uterus	1586	CYP17A1	ORPHA:90796
HP:0000013	Hypoplasia of the uterus	9928	KIF14	OMIM:616258
HP:0000013	Hypoplasia of the uterus	9928	KIF14	OMIM:617914
HP:0000013	Hypoplasia of the uterus	56945	MRPS22	OMIM:618117
HP:0000013	Hypoplasia of the uterus	6928	HNF1B	OMIM:137920
HP:0000013	Hypoplasia of the uterus	8192	CLPP	OMIM:614129
HP:0000013	Hypoplasia of the uterus	658	BMPR1B	OMIM:609441
HP:0000013	Hypoplasia of the uterus	80067	DCAF17	OMIM:241080
HP:0000013	Hypoplasia of the uterus	23514	SPIDR	OMIM:619665
HP:0000013	Hypoplasia of the uterus	26284	ERAL1	OMIM:617565
HP:0000013	Hypoplasia of the uterus	4439	MSH5	OMIM:617442
HP:0000013	Hypoplasia of the uterus	51199	NIN	OMIM:614851
HP:0000013	Hypoplasia of the uterus	23395	LARS2	OMIM:615300
HP:0000013	Hypoplasia of the uterus	6662	SOX9	OMIM:278850
HP:0000013	Hypoplasia of the uterus	55012	PPP2R3C	OMIM:618419
HP:0000013	Hypoplasia of the uterus	344018	FIGLA	OMIM:612310
HP:0000013	Hypoplasia of the uterus	6664	SOX11	OMIM:615866
HP:0000013	Hypoplasia of the uterus	50846	DHH	OMIM:233420
HP:0000013	Hypoplasia of the uterus	50846	DHH	ORPHA:168563
HP:0009466	Radial deviation of finger	1836	SLC26A2	ORPHA:56304
HP:0009466	Radial deviation of finger	1836	SLC26A2	OMIM:256050
HP:0009466	Radial deviation of finger	1836	SLC26A2	OMIM:222600
HP:0009466	Radial deviation of finger	1836	SLC26A2	ORPHA:628
HP:0009466	Radial deviation of finger	79796	ALG9	ORPHA:79328
HP:0009466	Radial deviation of finger	23019	CNOT1	OMIM:618500
HP:0009466	Radial deviation of finger	54928	BPNT2	OMIM:614078
HP:0009466	Radial deviation of finger	22858	CILK1	OMIM:612651
HP:0009466	Radial deviation of finger	1954	MEGF8	OMIM:614976
HP:0009466	Radial deviation of finger	2317	FLNB	OMIM:108721
HP:0009466	Radial deviation of finger	3549	IHH	OMIM:112500
HP:0009466	Radial deviation of finger	2263	FGFR2	OMIM:149730
HP:0009466	Radial deviation of finger	59341	TRPV4	OMIM:606835
HP:0009466	Radial deviation of finger	59341	TRPV4	OMIM:113500
HP:0009466	Radial deviation of finger	4920	ROR2	OMIM:268310
HP:0009466	Radial deviation of finger	5295	PIK3R1	OMIM:269880
HP:0009466	Radial deviation of finger	2245	FGD1	OMIM:305400
HP:0009466	Radial deviation of finger	10262	SF3B4	OMIM:154400
HP:0009466	Radial deviation of finger	65250	CPLANE1	OMIM:277170
HP:0009466	Radial deviation of finger	54880	BCOR	OMIM:309800
HP:0009466	Radial deviation of finger	8260	NAA10	OMIM:309800
HP:0009466	Radial deviation of finger	9241	NOG	OMIM:186570
HP:0009466	Radial deviation of finger	9241	NOG	OMIM:186500
HP:0009466	Radial deviation of finger	84231	TRAF7	OMIM:618164
HP:0009466	Radial deviation of finger	22856	CHSY1	ORPHA:363417
HP:0009466	Radial deviation of finger	546	ATRX	OMIM:309580
HP:0009466	Radial deviation of finger	546	ATRX	OMIM:301040
HP:0009466	Radial deviation of finger	2146	EZH2	OMIM:277590
HP:0009466	Radial deviation of finger	84100	ARL6	OMIM:209900
HP:0009466	Radial deviation of finger	79140	CCDC28B	OMIM:209900
HP:0009466	Radial deviation of finger	582	BBS1	OMIM:209900
HP:0009466	Radial deviation of finger	157570	ESCO2	ORPHA:3103
HP:0009466	Radial deviation of finger	157570	ESCO2	OMIM:268300
HP:0009466	Radial deviation of finger	100033413	SNORD116-1	OMIM:176270
HP:0009466	Radial deviation of finger	8924	HERC2	OMIM:176270
HP:0009466	Radial deviation of finger	23742	NPAP1	OMIM:176270
HP:0009466	Radial deviation of finger	338433	SNORD115-1	OMIM:176270
HP:0009466	Radial deviation of finger	54551	MAGEL2	OMIM:176270
HP:0009466	Radial deviation of finger	7681	MKRN3	OMIM:176270
HP:0009466	Radial deviation of finger	145624	PWAR1	OMIM:176270
HP:0009466	Radial deviation of finger	3653	IPW	OMIM:176270
HP:0009466	Radial deviation of finger	791114	PWRN1	OMIM:176270
HP:0009466	Radial deviation of finger	55764	IFT122	OMIM:218330
HP:0009466	Radial deviation of finger	7474	WNT5A	OMIM:180700
HP:0009466	Radial deviation of finger	1855	DVL1	OMIM:180700
HP:0009466	Radial deviation of finger	658	BMPR1B	OMIM:609441
HP:0009466	Radial deviation of finger	257	ALX3	OMIM:136760
HP:0009466	Radial deviation of finger	65267	WNK3	OMIM:309610
HP:0009466	Radial deviation of finger	4089	SMAD4	OMIM:139210
HP:0009466	Radial deviation of finger	54903	MKS1	OMIM:249000
HP:0009466	Radial deviation of finger	29123	ANKRD11	OMIM:148050
HP:0009466	Radial deviation of finger	2261	FGFR3	OMIM:602849
HP:0009466	Radial deviation of finger	8481	OFD1	OMIM:311200
HP:0009466	Radial deviation of finger	25942	SIN3A	OMIM:613406
HP:0009466	Radial deviation of finger	9968	MED12	OMIM:305450
HP:0009466	Radial deviation of finger	9244	CRLF1	OMIM:272430
HP:0009466	Radial deviation of finger	10225	CD96	OMIM:211750
HP:0009466	Radial deviation of finger	3480	IGF1R	OMIM:270450
HP:0009466	Radial deviation of finger	673	BRAF	OMIM:163950
HP:0009466	Radial deviation of finger	5604	MAP2K1	OMIM:163950
HP:0009466	Radial deviation of finger	5781	PTPN11	OMIM:163950
HP:0009466	Radial deviation of finger	26227	PHGDH	OMIM:256520
HP:0009466	Radial deviation of finger	650	BMP2	OMIM:112600
HP:0009466	Radial deviation of finger	8200	GDF5	OMIM:112600
HP:0009466	Radial deviation of finger	23483	TGDS	ORPHA:1388
HP:0009466	Radial deviation of finger	2316	FLNA	OMIM:304120
HP:0009466	Radial deviation of finger	124583	CANT1	OMIM:251450
HP:0001159	Syndactyly	50964	SOST	OMIM:269500
HP:0001159	Syndactyly	2245	FGD1	OMIM:305400
HP:0001159	Syndactyly	28981	IFT81	OMIM:617895
HP:0001159	Syndactyly	23592	LEMD3	ORPHA:166119
HP:0001159	Syndactyly	23135	KDM6B	OMIM:618505
HP:0001159	Syndactyly	84529	CDIN1	OMIM:615631
HP:0001159	Syndactyly	5885	RAD21	OMIM:614701
HP:0001159	Syndactyly	57539	WDR35	OMIM:613610
HP:0001159	Syndactyly	57539	WDR35	OMIM:614091
HP:0001159	Syndactyly	8195	MKKS	OMIM:236700
HP:0001159	Syndactyly	8195	MKKS	OMIM:605231
HP:0001159	Syndactyly	8195	MKKS	ORPHA:110
HP:0001159	Syndactyly	90459	ERI1	OMIM:620663
HP:0001159	Syndactyly	90459	ERI1	OMIM:620662
HP:0001159	Syndactyly	57167	SALL4	OMIM:607323
HP:0001159	Syndactyly	100033413	SNORD116-1	OMIM:176270
HP:0001159	Syndactyly	8924	HERC2	OMIM:176270
HP:0001159	Syndactyly	23742	NPAP1	OMIM:176270
HP:0001159	Syndactyly	338433	SNORD115-1	OMIM:176270
HP:0001159	Syndactyly	54551	MAGEL2	OMIM:176270
HP:0001159	Syndactyly	7681	MKRN3	OMIM:176270
HP:0001159	Syndactyly	145624	PWAR1	OMIM:176270
HP:0001159	Syndactyly	3653	IPW	OMIM:176270
HP:0001159	Syndactyly	791114	PWRN1	OMIM:176270
HP:0001159	Syndactyly	2316	FLNA	OMIM:300244
HP:0001159	Syndactyly	2316	FLNA	ORPHA:88630
HP:0001159	Syndactyly	2316	FLNA	OMIM:300049
HP:0001159	Syndactyly	4920	ROR2	OMIM:113000
HP:0001159	Syndactyly	4920	ROR2	OMIM:268310
HP:0001159	Syndactyly	1723	DHODH	OMIM:263750
HP:0001159	Syndactyly	473	RERE	OMIM:616975
HP:0001159	Syndactyly	4552	MTRR	ORPHA:2169
HP:0001159	Syndactyly	22858	CILK1	OMIM:612651
HP:0001159	Syndactyly	55249	YY1AP1	ORPHA:79094
HP:0001159	Syndactyly	55249	YY1AP1	OMIM:602531
HP:0001159	Syndactyly	2033	EP300	ORPHA:353284
HP:0001159	Syndactyly	2033	EP300	OMIM:180849
HP:0001159	Syndactyly	2033	EP300	OMIM:613684
HP:0001159	Syndactyly	4750	NEK1	OMIM:252100
HP:0001159	Syndactyly	2192	FBLN1	ORPHA:404451
HP:0001159	Syndactyly	1146	CHRNG	OMIM:265000
HP:0001159	Syndactyly	4052	LTBP1	OMIM:619451
HP:0001159	Syndactyly	8913	CACNA1G	OMIM:618087
HP:0001159	Syndactyly	10265	IRX5	OMIM:611174
HP:0001159	Syndactyly	50814	NSDHL	OMIM:308050
HP:0001159	Syndactyly	54567	DLL4	OMIM:616589
HP:0001159	Syndactyly	84100	ARL6	OMIM:209900
HP:0001159	Syndactyly	84100	ARL6	ORPHA:110
HP:0001159	Syndactyly	79140	CCDC28B	OMIM:209900
HP:0001159	Syndactyly	582	BBS1	OMIM:209900
HP:0001159	Syndactyly	582	BBS1	ORPHA:110
HP:0001159	Syndactyly	1009	CDH11	OMIM:619736
HP:0001159	Syndactyly	894	CCND2	OMIM:615938
HP:0001159	Syndactyly	3481	IGF2	OMIM:180860
HP:0001159	Syndactyly	3481	IGF2	OMIM:616489
HP:0001159	Syndactyly	3481	IGF2	ORPHA:397590
HP:0001159	Syndactyly	23389	MED13L	ORPHA:369891
HP:0001159	Syndactyly	64327	LMBR1	OMIM:135750
HP:0001159	Syndactyly	727857	BHLHA9	OMIM:607539
HP:0001159	Syndactyly	9839	ZEB2	ORPHA:261552
HP:0001159	Syndactyly	9839	ZEB2	ORPHA:261537
HP:0001159	Syndactyly	9896	FIG4	ORPHA:3472
HP:0001159	Syndactyly	55697	VAC14	ORPHA:3472
HP:0001159	Syndactyly	8550	MAPKAPK5	OMIM:619869
HP:0001159	Syndactyly	2263	FGFR2	OMIM:101400
HP:0001159	Syndactyly	2263	FGFR2	ORPHA:2363
HP:0001159	Syndactyly	2263	FGFR2	OMIM:101600
HP:0001159	Syndactyly	2263	FGFR2	OMIM:101200
HP:0001159	Syndactyly	7291	TWIST1	OMIM:101400
HP:0001159	Syndactyly	7476	WNT7A	OMIM:613005
HP:0001159	Syndactyly	51715	RAB23	ORPHA:65759
HP:0001159	Syndactyly	1954	MEGF8	ORPHA:65759
HP:0001159	Syndactyly	9419	CRIPT	OMIM:615789
HP:0001159	Syndactyly	2737	GLI3	OMIM:146510
HP:0001159	Syndactyly	2737	GLI3	OMIM:175700
HP:0001159	Syndactyly	2737	GLI3	OMIM:174200
HP:0001159	Syndactyly	2737	GLI3	ORPHA:93322
HP:0001159	Syndactyly	9791	PTDSS1	OMIM:151050
HP:0001159	Syndactyly	92482	BBIP1	ORPHA:110
HP:0001159	Syndactyly	80184	CEP290	ORPHA:110
HP:0001159	Syndactyly	11020	IFT27	ORPHA:110
HP:0001159	Syndactyly	49855	SCAPER	ORPHA:110
HP:0001159	Syndactyly	4867	NPHP1	ORPHA:110
HP:0001159	Syndactyly	51057	WDPCP	ORPHA:110
HP:0001159	Syndactyly	132320	SCLT1	ORPHA:110
HP:0001159	Syndactyly	27241	BBS9	ORPHA:110
HP:0001159	Syndactyly	27241	BBS9	OMIM:615986
HP:0001159	Syndactyly	84984	CEP19	ORPHA:110
HP:0001159	Syndactyly	22954	TRIM32	ORPHA:110
HP:0001159	Syndactyly	54903	MKS1	ORPHA:110
HP:0001159	Syndactyly	54903	MKS1	OMIM:249000
HP:0001159	Syndactyly	79738	BBS10	ORPHA:110
HP:0001159	Syndactyly	123016	TTC8	ORPHA:110
HP:0001159	Syndactyly	26160	IFT172	ORPHA:110
HP:0001159	Syndactyly	583	BBS2	ORPHA:110
HP:0001159	Syndactyly	585	BBS4	ORPHA:110
HP:0001159	Syndactyly	585	BBS4	OMIM:615982
HP:0001159	Syndactyly	54585	LZTFL1	ORPHA:110
HP:0001159	Syndactyly	55212	BBS7	ORPHA:110
HP:0001159	Syndactyly	166379	BBS12	ORPHA:110
HP:0001159	Syndactyly	10806	SDCCAG8	ORPHA:110
HP:0001159	Syndactyly	157657	CFAP418	ORPHA:110
HP:0001159	Syndactyly	129880	BBS5	ORPHA:110
HP:0001159	Syndactyly	129880	BBS5	OMIM:615983
HP:0001159	Syndactyly	80173	IFT74	ORPHA:110
HP:0001159	Syndactyly	54880	BCOR	OMIM:309800
HP:0001159	Syndactyly	8260	NAA10	OMIM:309800
HP:0001159	Syndactyly	23126	POGZ	OMIM:616364
HP:0001159	Syndactyly	4000	LMNA	OMIM:610140
HP:0001159	Syndactyly	145173	B3GLCT	OMIM:261540
HP:0001159	Syndactyly	1387	CREBBP	OMIM:180849
HP:0001159	Syndactyly	1387	CREBBP	ORPHA:353277
HP:0001159	Syndactyly	79633	FAT4	OMIM:616006
HP:0001159	Syndactyly	79633	FAT4	ORPHA:314679
HP:0001159	Syndactyly	29957	SLC25A24	OMIM:612289
HP:0001159	Syndactyly	4659	PPP1R12A	OMIM:618820
HP:0001159	Syndactyly	79770	TXNDC15	OMIM:619879
HP:0001159	Syndactyly	8626	TP63	OMIM:129400
HP:0001159	Syndactyly	8626	TP63	OMIM:603543
HP:0001159	Syndactyly	8626	TP63	OMIM:605289
HP:0001159	Syndactyly	8626	TP63	ORPHA:69085
HP:0001159	Syndactyly	2887	GRB10	ORPHA:96182
HP:0001159	Syndactyly	5290	PIK3CA	OMIM:602501
HP:0001159	Syndactyly	6305	SBF1	OMIM:615284
HP:0001159	Syndactyly	374879	ZNF699	OMIM:619488
HP:0001159	Syndactyly	1857	DVL3	OMIM:616894
HP:0001159	Syndactyly	28952	CCDC22	OMIM:300963
HP:0001159	Syndactyly	1028	CDKN1C	ORPHA:397590
HP:0001159	Syndactyly	5324	PLAG1	ORPHA:397590
HP:0001159	Syndactyly	8091	HMGA2	ORPHA:397590
HP:0001159	Syndactyly	641	BLM	OMIM:210900
HP:0001159	Syndactyly	8481	OFD1	OMIM:311200
HP:0001159	Syndactyly	8481	OFD1	ORPHA:2754
HP:0001159	Syndactyly	2261	FGFR3	ORPHA:2363
HP:0001159	Syndactyly	2255	FGF10	ORPHA:2363
HP:0001159	Syndactyly	8642	DCHS1	ORPHA:314679
HP:0001159	Syndactyly	9968	MED12	OMIM:305450
HP:0001159	Syndactyly	3239	HOXD13	OMIM:610713
HP:0001159	Syndactyly	57688	ZSWIM6	OMIM:603671
HP:0001159	Syndactyly	1749	DLX5	OMIM:183600
HP:0001159	Syndactyly	9897	WASHC5	OMIM:220210
HP:0001159	Syndactyly	4677	NARS1	OMIM:619091
HP:0001159	Syndactyly	4677	NARS1	OMIM:619092
HP:0001159	Syndactyly	79989	IFT56	OMIM:619534
HP:0001159	Syndactyly	84231	TRAF7	OMIM:618164
HP:0001159	Syndactyly	51317	PHF21A	OMIM:618725
HP:0001159	Syndactyly	4851	NOTCH1	OMIM:616028
HP:0001159	Syndactyly	25836	NIPBL	OMIM:122470
HP:0001159	Syndactyly	51594	NBAS	OMIM:614800
HP:0001159	Syndactyly	7048	TGFBR2	OMIM:610168
HP:0001159	Syndactyly	775	CACNA1C	OMIM:618447
HP:0001159	Syndactyly	85459	CEP295	OMIM:620767
HP:0001159	Syndactyly	22856	CHSY1	OMIM:605282
HP:0001159	Syndactyly	6513	SLC2A1	ORPHA:1942
HP:0001159	Syndactyly	8831	SYNGAP1	ORPHA:1942
HP:0001159	Syndactyly	1173	AP2M1	ORPHA:1942
HP:0001159	Syndactyly	6323	SCN1A	ORPHA:1942
HP:0001159	Syndactyly	340533	NEXMIF	ORPHA:1942
HP:0001159	Syndactyly	1106	CHD2	ORPHA:1942
HP:0001159	Syndactyly	6529	SLC6A1	ORPHA:1942
HP:0001159	Syndactyly	79583	TMEM231	ORPHA:2754
HP:0001159	Syndactyly	10210	TOPORS	ORPHA:2754
HP:0001159	Syndactyly	9851	KIAA0753	ORPHA:2754
HP:0001159	Syndactyly	26123	TCTN3	ORPHA:2754
HP:0001159	Syndactyly	5147	PDE6D	ORPHA:2754
HP:0001159	Syndactyly	65250	CPLANE1	ORPHA:2754
HP:0001159	Syndactyly	51259	TMEM216	ORPHA:2754
HP:0001159	Syndactyly	317662	FAM149B1	ORPHA:2754
HP:0001159	Syndactyly	374654	KIF7	ORPHA:2754
HP:0001159	Syndactyly	157570	ESCO2	OMIM:268300
HP:0001159	Syndactyly	6910	TBX5	OMIM:142900
HP:0001159	Syndactyly	1832	DSP	OMIM:609638
HP:0001159	Syndactyly	3914	LAMB3	OMIM:226700
HP:0001159	Syndactyly	3918	LAMC2	OMIM:226700
HP:0001159	Syndactyly	3909	LAMA3	OMIM:226700
HP:0001159	Syndactyly	171023	ASXL1	OMIM:605039
HP:0001159	Syndactyly	29123	ANKRD11	OMIM:148050
HP:0001159	Syndactyly	54101	RIPK4	OMIM:263650
HP:0001159	Syndactyly	92935	MARS2	OMIM:616430
HP:0001159	Syndactyly	146059	CDAN1	OMIM:224120
HP:0001159	Syndactyly	10464	PIBF1	OMIM:617767
HP:0001159	Syndactyly	2260	FGFR1	OMIM:101600
HP:0001159	Syndactyly	2260	FGFR1	OMIM:615465
HP:0001159	Syndactyly	10801	SEPTIN9	ORPHA:2901
HP:0001159	Syndactyly	5908	RAP1B	OMIM:620654
HP:0001159	Syndactyly	27145	FILIP1	OMIM:620775
HP:0001159	Syndactyly	55112	DYNC2I1	OMIM:615503
HP:0001159	Syndactyly	3207	HOXA11	OMIM:605432
HP:0001159	Syndactyly	4038	LRP4	OMIM:212780
HP:0001159	Syndactyly	341640	FREM2	ORPHA:2052
HP:0001159	Syndactyly	80144	FRAS1	ORPHA:2052
HP:0001159	Syndactyly	23426	GRIP1	ORPHA:2052
HP:0001159	Syndactyly	10262	SF3B4	OMIM:154400
HP:0001159	Syndactyly	6309	SC5D	ORPHA:46059
HP:0001159	Syndactyly	9759	HDAC4	ORPHA:1001
HP:0001159	Syndactyly	9241	NOG	OMIM:184460
HP:0001159	Syndactyly	55869	HDAC8	OMIM:300882
HP:0001159	Syndactyly	55869	HDAC8	ORPHA:199
HP:0001159	Syndactyly	117581	TWIST2	OMIM:200110
HP:0001159	Syndactyly	117581	TWIST2	ORPHA:920
HP:0001159	Syndactyly	3020	H3-3A	OMIM:619720
HP:0001159	Syndactyly	613	BCR	ORPHA:261330
HP:0001159	Syndactyly	1399	CRKL	ORPHA:261330
HP:0001159	Syndactyly	5594	MAPK1	ORPHA:261330
HP:0001159	Syndactyly	9790	BMS1	ORPHA:1114
HP:0001159	Syndactyly	5339	PLEC	ORPHA:1114
HP:0001159	Syndactyly	10054	UBA2	ORPHA:1114
HP:0001159	Syndactyly	3691	ITGB4	ORPHA:1114
HP:0001159	Syndactyly	2314	FLII	ORPHA:819
HP:0001159	Syndactyly	23096	IQSEC2	ORPHA:819
HP:0001159	Syndactyly	23096	IQSEC2	ORPHA:217377
HP:0001159	Syndactyly	10743	RAI1	ORPHA:819
HP:0001159	Syndactyly	10522	DEAF1	ORPHA:819
HP:0001159	Syndactyly	5818	NECTIN1	ORPHA:3253
HP:0001159	Syndactyly	10225	CD96	OMIM:211750
HP:0001159	Syndactyly	10225	CD96	ORPHA:1308
HP:0001159	Syndactyly	324	APC	ORPHA:3258
HP:0001159	Syndactyly	9126	SMC3	OMIM:610759
HP:0001159	Syndactyly	9126	SMC3	ORPHA:199
HP:0001159	Syndactyly	7480	WNT10B	OMIM:225300
HP:0001159	Syndactyly	9698	PUM1	OMIM:620719
HP:0001159	Syndactyly	80204	FBXO11	OMIM:618089
HP:0001159	Syndactyly	7021	TFAP2B	ORPHA:46627
HP:0001159	Syndactyly	2019	EN1	OMIM:619218
HP:0001159	Syndactyly	64359	NXN	ORPHA:1507
HP:0001159	Syndactyly	672	BRCA1	ORPHA:84
HP:0001159	Syndactyly	10459	MAD2L2	ORPHA:84
HP:0001159	Syndactyly	7516	XRCC2	ORPHA:84
HP:0001159	Syndactyly	29089	UBE2T	ORPHA:84
HP:0001159	Syndactyly	675	BRCA2	ORPHA:84
HP:0001159	Syndactyly	55120	FANCL	ORPHA:84
HP:0001159	Syndactyly	2177	FANCD2	ORPHA:84
HP:0001159	Syndactyly	2175	FANCA	ORPHA:84
HP:0001159	Syndactyly	2187	FANCB	ORPHA:84
HP:0001159	Syndactyly	2176	FANCC	ORPHA:84
HP:0001159	Syndactyly	2178	FANCE	ORPHA:84
HP:0001159	Syndactyly	2188	FANCF	ORPHA:84
HP:0001159	Syndactyly	2189	FANCG	ORPHA:84
HP:0001159	Syndactyly	5888	RAD51	ORPHA:84
HP:0001159	Syndactyly	5889	RAD51C	ORPHA:84
HP:0001159	Syndactyly	55159	RFWD3	ORPHA:84
HP:0001159	Syndactyly	83990	BRIP1	ORPHA:84
HP:0001159	Syndactyly	57697	FANCM	ORPHA:84
HP:0001159	Syndactyly	79728	PALB2	ORPHA:84
HP:0001159	Syndactyly	84464	SLX4	ORPHA:84
HP:0001159	Syndactyly	2072	ERCC4	ORPHA:84
HP:0001159	Syndactyly	55215	FANCI	ORPHA:84
HP:0001159	Syndactyly	3759	KCNJ2	OMIM:170390
HP:0001159	Syndactyly	64093	SMOC1	ORPHA:1106
HP:0001159	Syndactyly	64093	SMOC1	OMIM:206920
HP:0001159	Syndactyly	2697	GJA1	ORPHA:2710
HP:0001159	Syndactyly	2697	GJA1	OMIM:186100
HP:0001159	Syndactyly	652	BMP4	OMIM:607932
HP:0001159	Syndactyly	6469	SHH	ORPHA:93405
HP:0001159	Syndactyly	25942	SIN3A	OMIM:613406
HP:0001159	Syndactyly	4929	NR4A2	ORPHA:1617
HP:0001159	Syndactyly	10716	TBR1	ORPHA:1617
HP:0001159	Syndactyly	2313	FLI1	ORPHA:2308
HP:0001159	Syndactyly	26227	PHGDH	OMIM:256520
HP:0001159	Syndactyly	23476	BRD4	ORPHA:199
HP:0001159	Syndactyly	8243	SMC1A	ORPHA:199
HP:0001159	Syndactyly	6878	TAF6	ORPHA:199
HP:0001159	Syndactyly	153241	CEP120	ORPHA:474
HP:0001159	Syndactyly	57560	IFT80	ORPHA:474
HP:0001159	Syndactyly	51626	DYNC2LI1	ORPHA:474
HP:0001159	Syndactyly	79659	DYNC2H1	ORPHA:474
HP:0001159	Syndactyly	9742	IFT140	ORPHA:474
HP:0001159	Syndactyly	57728	WDR19	ORPHA:474
HP:0001159	Syndactyly	89891	DYNC2I2	ORPHA:474
HP:0001159	Syndactyly	79809	TTC21B	ORPHA:474
HP:0001159	Syndactyly	3981	LIG4	ORPHA:235
HP:0001159	Syndactyly	54888	NSUN2	ORPHA:235
HP:0001159	Syndactyly	64840	PORCN	OMIM:305600
HP:0001159	Syndactyly	64840	PORCN	ORPHA:2092
HP:0001159	Syndactyly	1947	EFNB1	OMIM:304110
HP:0001159	Syndactyly	4613	MYCN	ORPHA:391641
HP:0001159	Syndactyly	4613	MYCN	OMIM:620748
HP:0001159	Syndactyly	84265	POLR3GL	OMIM:619234
HP:0001159	Syndactyly	92002	CCNQ	OMIM:300707
HP:0001159	Syndactyly	92002	CCNQ	ORPHA:140952
HP:0001159	Syndactyly	91754	NEK9	ORPHA:64754
HP:0001159	Syndactyly	57514	ARHGAP31	OMIM:100300
HP:0001159	Syndactyly	79005	SCNM1	OMIM:620107
HP:0001159	Syndactyly	6608	SMO	OMIM:241800
HP:0001159	Syndactyly	6608	SMO	ORPHA:1553
HP:0001159	Syndactyly	6134	RPL10	ORPHA:459070
HP:0001159	Syndactyly	84992	PIGY	OMIM:616809
HP:0001159	Syndactyly	51633	OTUD6B	ORPHA:505237
HP:0001159	Syndactyly	28957	MRPS28	OMIM:618958
HP:0001159	Syndactyly	8450	CUL4B	ORPHA:85293
HP:0001159	Syndactyly	79971	WLS	OMIM:619648
HP:0001159	Syndactyly	6299	SALL1	ORPHA:857
HP:0001159	Syndactyly	51339	DACT1	ORPHA:857
HP:0001159	Syndactyly	526	ATP6V1B2	OMIM:124480
HP:0001159	Syndactyly	407975	MIR17HG	ORPHA:391646
HP:0001159	Syndactyly	2767	GNA11	ORPHA:1556
HP:0001159	Syndactyly	151188	ARL6IP6	ORPHA:1556
HP:0001159	Syndactyly	4208	MEF2C	ORPHA:228384
HP:0001159	Syndactyly	2239	GPC4	ORPHA:373
HP:0001159	Syndactyly	2719	GPC3	ORPHA:373
HP:0001159	Syndactyly	3664	IRF6	ORPHA:1300
HP:0001159	Syndactyly	4087	SMAD2	OMIM:619657
HP:0001159	Syndactyly	50945	TBX22	ORPHA:921
HP:0001159	Syndactyly	29968	PSAT1	OMIM:616038
HP:0001159	Syndactyly	10664	CTCF	OMIM:615502
HP:0001159	Syndactyly	10682	EBP	ORPHA:401973
HP:0001159	Syndactyly	10682	EBP	OMIM:300960
HP:0001159	Syndactyly	658	BMPR1B	OMIM:112600
HP:0001159	Syndactyly	650	BMP2	OMIM:112600
HP:0001159	Syndactyly	22827	PUF60	ORPHA:508498
HP:0001159	Syndactyly	11253	MAN1B1	ORPHA:397941
HP:0001159	Syndactyly	23394	ADNP	ORPHA:404448
HP:0001159	Syndactyly	5898	RALA	OMIM:619311
HP:0001159	Syndactyly	8294	H4C9	OMIM:619951
HP:0001159	Syndactyly	8506	CNTNAP1	OMIM:618186
HP:0001159	Syndactyly	4683	NBN	OMIM:251260
HP:0001159	Syndactyly	10586	MAB21L2	OMIM:615877
HP:0001159	Syndactyly	5927	KDM5A	OMIM:620820
HP:0001159	Syndactyly	10274	STAG1	ORPHA:502434
HP:0001159	Syndactyly	85358	SHANK3	OMIM:606232
HP:0001159	Syndactyly	10297	APC2	ORPHA:821
HP:0001159	Syndactyly	55209	SETD5	ORPHA:404440
HP:0001159	Syndactyly	55790	CSGALNACT1	OMIM:618870
HP:0001159	Syndactyly	23291	FBXW11	OMIM:618914
HP:0001159	Syndactyly	10982	MAPRE2	OMIM:616734
HP:0001159	Syndactyly	4297	KMT2A	OMIM:605130
HP:0001159	Syndactyly	6660	SOX5	ORPHA:313892
HP:0001159	Syndactyly	11145	PLAAT3	OMIM:620683
HP:0001159	Syndactyly	7319	UBE2A	OMIM:300860
HP:0001159	Syndactyly	10087	CERT1	OMIM:616351
HP:0001159	Syndactyly	372	ARCN1	OMIM:617164
HP:0001159	Syndactyly	164	AP1G1	OMIM:619467
HP:0001159	Syndactyly	1656	DDX6	OMIM:618653
HP:0001159	Syndactyly	23327	NEDD4L	OMIM:617201
HP:0001159	Syndactyly	57178	ZMIZ1	OMIM:618659
HP:0001159	Syndactyly	93627	TBCK	ORPHA:488632
HP:0001159	Syndactyly	6304	SATB1	OMIM:619229
HP:0001159	Syndactyly	6874	TAF4	OMIM:620450
HP:0001159	Syndactyly	80185	TTI2	ORPHA:391307
HP:0001159	Syndactyly	3590	IL11RA	OMIM:614188
HP:0001159	Syndactyly	10907	TXNL4A	OMIM:608572
HP:0001159	Syndactyly	6558	SLC12A2	OMIM:619080
HP:0001159	Syndactyly	7204	TRIO	OMIM:617061
HP:0001159	Syndactyly	7204	TRIO	ORPHA:476126
HP:0001159	Syndactyly	2222	FDFT1	OMIM:618156
HP:0001159	Syndactyly	4089	SMAD4	OMIM:139210
HP:0001159	Syndactyly	6857	SYT1	ORPHA:522077
HP:0001159	Syndactyly	8318	CDC45	OMIM:617063
HP:0001159	Syndactyly	6472	SHMT2	OMIM:619121
HP:0001159	Syndactyly	80210	ARMC9	OMIM:617622
HP:0001159	Syndactyly	57570	TRMT5	OMIM:616539
HP:0001159	Syndactyly	3708	ITPR1	OMIM:117360
HP:0001159	Syndactyly	23529	CLCF1	OMIM:610313
HP:0001159	Syndactyly	11128	POLR3A	ORPHA:3455
HP:0001159	Syndactyly	745	MYRF	OMIM:618280
HP:0001159	Syndactyly	23387	SIK3	OMIM:618162
HP:0001159	Syndactyly	10020	GNE	OMIM:269921
HP:0001159	Syndactyly	10020	GNE	ORPHA:3166
HP:0001159	Syndactyly	1663	DDX11	OMIM:613398
HP:0001159	Syndactyly	9757	KMT2B	OMIM:619934
HP:0001159	Syndactyly	4848	CNOT2	OMIM:618608
HP:0001159	Syndactyly	55023	PHIP	ORPHA:589905
HP:0001159	Syndactyly	6913	TBX15	OMIM:260660
HP:0001159	Syndactyly	341208	HEPHL1	OMIM:261990
HP:0001159	Syndactyly	3720	JARID2	OMIM:620098
HP:0001159	Syndactyly	3762	KCNJ5	ORPHA:37553
HP:0001159	Syndactyly	9990	SLC12A6	OMIM:218000
HP:0001159	Syndactyly	51776	MAP3K20	OMIM:616890
HP:0001159	Syndactyly	51776	MAP3K20	ORPHA:488232
HP:0001159	Syndactyly	81607	NECTIN4	OMIM:613573
HP:0001159	Syndactyly	9894	TELO2	ORPHA:488642
HP:0001159	Syndactyly	5932	RBBP8	OMIM:251255
HP:0001159	Syndactyly	1147	CHUK	OMIM:619339
HP:0001159	Syndactyly	25914	RTTN	ORPHA:468631
HP:0001159	Syndactyly	4204	MECP2	OMIM:300260
HP:0001159	Syndactyly	8295	TRRAP	OMIM:618454
HP:0001159	Syndactyly	91179	SCARF2	OMIM:600920
HP:0001159	Syndactyly	23288	IQCE	OMIM:617642
HP:0001159	Syndactyly	5587	PRKD1	OMIM:617364
HP:0001159	Syndactyly	55784	MCTP2	ORPHA:1596
HP:0001159	Syndactyly	23261	CAMTA1	OMIM:614756
HP:0001159	Syndactyly	8823	FGF16	OMIM:309630
HP:0001159	Syndactyly	253738	EBF3	ORPHA:96148
HP:0001159	Syndactyly	10079	ATP9A	OMIM:620242
HP:0001159	Syndactyly	2556	GABRA3	OMIM:301091
HP:0001159	Syndactyly	374969	SVBP	OMIM:618569
HP:0001159	Syndactyly	1859	DYRK1A	ORPHA:268261
HP:0001159	Syndactyly	3728	JUP	ORPHA:158687
HP:0001159	Syndactyly	7337	UBE3A	ORPHA:238446
HP:0001159	Syndactyly	8854	ALDH1A2	OMIM:620025
HP:0001159	Syndactyly	8200	GDF5	ORPHA:3250
HP:0001159	Syndactyly	1750	DLX6	ORPHA:2440
HP:0001159	Syndactyly	7979	SEM1	ORPHA:2440
HP:0001159	Syndactyly	8945	BTRC	ORPHA:2440
HP:0001159	Syndactyly	58513	EPS15L1	ORPHA:2440
HP:0001159	Syndactyly	6468	FBXW4	ORPHA:2440
HP:0001159	Syndactyly	1717	DHCR7	ORPHA:818
HP:0001159	Syndactyly	23384	SPECC1L	ORPHA:1519
HP:0001159	Syndactyly	26128	KIFBP	ORPHA:66629
HP:0001159	Syndactyly	3764	KCNJ8	ORPHA:1517
HP:0001159	Syndactyly	10060	ABCC9	ORPHA:1517
HP:0001159	Syndactyly	150468	CKAP2L	ORPHA:3255
HP:0001159	Syndactyly	112752	IFT43	ORPHA:1515
HP:0001159	Syndactyly	51098	IFT52	ORPHA:1515
HP:0001159	Syndactyly	55764	IFT122	ORPHA:1515
HP:0001159	Syndactyly	1500	CTNND1	ORPHA:1997
HP:0001159	Syndactyly	999	CDH1	ORPHA:1997
HP:0001159	Syndactyly	5980	REV3L	ORPHA:570
HP:0001159	Syndactyly	23129	PLXND1	ORPHA:570
HP:0001159	Syndactyly	5925	RB1	ORPHA:1587
HP:0001159	Syndactyly	134701	RIPPLY2	ORPHA:2311
HP:0001159	Syndactyly	10683	DLL3	ORPHA:2311
HP:0001159	Syndactyly	3955	LFNG	ORPHA:2311
HP:0001159	Syndactyly	84667	HES7	ORPHA:2311
HP:0001159	Syndactyly	145873	MESP2	ORPHA:2311
HP:0001159	Syndactyly	81857	MED25	ORPHA:464738
HP:0001159	Syndactyly	1501	CTNND2	ORPHA:281
HP:0001159	Syndactyly	9037	SEMA5A	ORPHA:281
HP:0001159	Syndactyly	157680	VPS13B	ORPHA:193
HP:0001159	Syndactyly	7474	WNT5A	ORPHA:3107
HP:0001159	Syndactyly	1855	DVL1	ORPHA:3107
HP:0001159	Syndactyly	2535	FZD2	ORPHA:3107
HP:0001159	Syndactyly	9508	ADAMTS3	ORPHA:2136
HP:0001159	Syndactyly	147372	CCBE1	ORPHA:2136
HP:0001159	Syndactyly	10908	PNPLA6	ORPHA:2377
HP:0001159	Syndactyly	2122	MECOM	ORPHA:71289
HP:0001159	Syndactyly	2317	FLNB	ORPHA:503
HP:0001159	Syndactyly	2317	FLNB	ORPHA:1263
HP:0001159	Syndactyly	207	AKT1	ORPHA:744
HP:0001159	Syndactyly	8517	IKBKG	ORPHA:464
HP:0001159	Syndactyly	284252	KCTD1	OMIM:181270
HP:0001159	Syndactyly	8314	BAP1	OMIM:619762
HP:0001159	Syndactyly	3516	RBPJ	ORPHA:974
HP:0001159	Syndactyly	57572	DOCK6	ORPHA:974
HP:0001159	Syndactyly	285203	EOGT	ORPHA:974
HP:0001159	Syndactyly	8241	RBM10	ORPHA:2886
HP:0001159	Syndactyly	63895	PIEZO2	ORPHA:376
HP:0001159	Syndactyly	55612	FERMT1	ORPHA:2908
HP:0001159	Syndactyly	4621	MYH3	ORPHA:2990
HP:0001159	Syndactyly	9939	RBM8A	ORPHA:3320
HP:0001159	Syndactyly	9939	RBM8A	OMIM:274000
HP:0001159	Syndactyly	64324	NSD1	ORPHA:3447
HP:0001159	Syndactyly	23512	SUZ12	ORPHA:3447
HP:0001159	Syndactyly	2146	EZH2	ORPHA:3447
HP:0001159	Syndactyly	57020	VPS35L	ORPHA:7
HP:0001159	Syndactyly	56896	DPYSL5	ORPHA:7
HP:0001159	Syndactyly	7543	ZFX	OMIM:301118
HP:0001159	Syndactyly	1001	CDH3	ORPHA:1897
HP:0001159	Syndactyly	387	RHOA	OMIM:618727
HP:0001159	Syndactyly	4998	ORC1	OMIM:224690
HP:0001159	Syndactyly	5077	PAX3	OMIM:148820
HP:0001159	Syndactyly	5077	PAX3	ORPHA:896
HP:0001159	Syndactyly	26040	SETBP1	OMIM:616078
HP:0001159	Syndactyly	55012	PPP2R3C	OMIM:618419
HP:0001159	Syndactyly	4626	MYH8	OMIM:158300
HP:0001159	Syndactyly	2254	FGF9	OMIM:612961
HP:0001159	Syndactyly	64116	SLC39A8	ORPHA:468699
HP:0001159	Syndactyly	56916	SMARCAD1	OMIM:129200
HP:0001159	Syndactyly	7994	KAT6A	OMIM:616268
HP:0001159	Syndactyly	79639	TMEM53	OMIM:619727
HP:0001159	Syndactyly	64131	XYLT1	OMIM:615777
HP:0001159	Syndactyly	55165	CEP55	OMIM:236500
HP:0001159	Syndactyly	57465	TBC1D24	ORPHA:79500
HP:0001159	Syndactyly	4212	MEIS2	OMIM:600987
HP:0001159	Syndactyly	29998	BICRA	OMIM:619325
HP:0001159	Syndactyly	84162	BLTP1	OMIM:617822
HP:0001159	Syndactyly	83479	DDX59	OMIM:174300
HP:0001159	Syndactyly	9772	TMEM94	OMIM:618316
HP:0001159	Syndactyly	64864	RFX7	OMIM:620330
HP:0030470	Abnormal dark-adapted bright flash electroretinogram	345193	LRIT3	OMIM:615058
HP:0030470	Abnormal dark-adapted bright flash electroretinogram	345193	LRIT3	ORPHA:215
HP:0030470	Abnormal dark-adapted bright flash electroretinogram	6011	GRK1	ORPHA:75382
HP:0030470	Abnormal dark-adapted bright flash electroretinogram	6011	GRK1	ORPHA:215
HP:0030470	Abnormal dark-adapted bright flash electroretinogram	6295	SAG	ORPHA:75382
HP:0030470	Abnormal dark-adapted bright flash electroretinogram	6295	SAG	ORPHA:215
HP:0030470	Abnormal dark-adapted bright flash electroretinogram	6247	RS1	ORPHA:792
HP:0030470	Abnormal dark-adapted bright flash electroretinogram	6247	RS1	OMIM:312700
HP:0030470	Abnormal dark-adapted bright flash electroretinogram	93589	CACNA2D4	OMIM:610478
HP:0030470	Abnormal dark-adapted bright flash electroretinogram	93589	CACNA2D4	ORPHA:215
HP:0030470	Abnormal dark-adapted bright flash electroretinogram	24	ABCA4	OMIM:604116
HP:0030470	Abnormal dark-adapted bright flash electroretinogram	6017	RLBP1	ORPHA:85128
HP:0030470	Abnormal dark-adapted bright flash electroretinogram	57010	CABP4	OMIM:610427
HP:0030470	Abnormal dark-adapted bright flash electroretinogram	57010	CABP4	ORPHA:215
HP:0030470	Abnormal dark-adapted bright flash electroretinogram	4308	TRPM1	ORPHA:215
HP:0030470	Abnormal dark-adapted bright flash electroretinogram	2916	GRM6	ORPHA:215
HP:0030470	Abnormal dark-adapted bright flash electroretinogram	5158	PDE6B	ORPHA:215
HP:0030470	Abnormal dark-adapted bright flash electroretinogram	440435	GPR179	ORPHA:215
HP:0030470	Abnormal dark-adapted bright flash electroretinogram	778	CACNA1F	ORPHA:215
HP:0030470	Abnormal dark-adapted bright flash electroretinogram	778	CACNA1F	OMIM:300071
HP:0030470	Abnormal dark-adapted bright flash electroretinogram	6010	RHO	ORPHA:215
HP:0030470	Abnormal dark-adapted bright flash electroretinogram	9187	SLC24A1	ORPHA:215
HP:0030470	Abnormal dark-adapted bright flash electroretinogram	2784	GNB3	ORPHA:215
HP:0030470	Abnormal dark-adapted bright flash electroretinogram	2779	GNAT1	ORPHA:215
HP:0030470	Abnormal dark-adapted bright flash electroretinogram	60506	NYX	ORPHA:215
HP:0030470	Abnormal dark-adapted bright flash electroretinogram	157657	CFAP418	OMIM:617406
HP:0030479	Abnormal amplitude of light-adapted flicker electroretinogram	778	CACNA1F	OMIM:300071
HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	345193	LRIT3	OMIM:615058
HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	345193	LRIT3	ORPHA:215
HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	6011	GRK1	ORPHA:75382
HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	6011	GRK1	ORPHA:215
HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	6295	SAG	ORPHA:75382
HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	6295	SAG	ORPHA:215
HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	6247	RS1	ORPHA:792
HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	6247	RS1	OMIM:312700
HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	93589	CACNA2D4	OMIM:610478
HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	93589	CACNA2D4	ORPHA:215
HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	24	ABCA4	OMIM:604116
HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	6017	RLBP1	ORPHA:85128
HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	57010	CABP4	OMIM:610427
HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	57010	CABP4	ORPHA:215
HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	4308	TRPM1	ORPHA:215
HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	2916	GRM6	ORPHA:215
HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	5158	PDE6B	ORPHA:215
HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	440435	GPR179	ORPHA:215
HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	778	CACNA1F	ORPHA:215
HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	778	CACNA1F	OMIM:300071
HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	6010	RHO	ORPHA:215
HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	9187	SLC24A1	ORPHA:215
HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	2784	GNB3	ORPHA:215
HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	2779	GNAT1	ORPHA:215
HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	60506	NYX	ORPHA:215
HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	157657	CFAP418	OMIM:617406
HP:0030474	Undetectable dark-adapted electroretinogram	6017	RLBP1	ORPHA:85128
HP:0030473	Abnormal light-adapted flicker electroretinogram	5149	PDE6H	OMIM:610024
HP:0030473	Abnormal light-adapted flicker electroretinogram	9371	KIF3B	OMIM:618955
HP:0030473	Abnormal light-adapted flicker electroretinogram	5193	PEX12	OMIM:266510
HP:0030473	Abnormal light-adapted flicker electroretinogram	778	CACNA1F	OMIM:300071
HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	157657	CFAP418	OMIM:617406
HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	4308	TRPM1	ORPHA:215
HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	57010	CABP4	ORPHA:215
HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	345193	LRIT3	ORPHA:215
HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	93589	CACNA2D4	ORPHA:215
HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	2916	GRM6	ORPHA:215
HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	5158	PDE6B	ORPHA:215
HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	440435	GPR179	ORPHA:215
HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	6011	GRK1	ORPHA:215
HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	778	CACNA1F	ORPHA:215
HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	6010	RHO	ORPHA:215
HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	9187	SLC24A1	ORPHA:215
HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	6295	SAG	ORPHA:215
HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	2784	GNB3	ORPHA:215
HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	2779	GNAT1	ORPHA:215
HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	60506	NYX	ORPHA:215
HP:0030488	Abnormal central response of multifocal electroretinogram	92840	REEP6	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	6094	ROM1	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	6017	RLBP1	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	7401	CLRN1	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	24	ABCA4	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	130557	ZNF513	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	582	BBS1	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	92211	CDHR1	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	23568	ARL2BP	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	6121	RPE65	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	54806	AHI1	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	6101	RP1	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	3419	IDH3A	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	4751	NEK2	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	346007	EYS	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	8100	IFT88	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	23020	SNRNP200	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	762	CA4	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	138050	HGSNAT	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	196	AHR	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	3614	IMPDH1	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	123016	TTC8	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	6103	RPGR	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	1406	CRX	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	5148	PDE6G	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	26160	IFT172	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	26121	PRPF31	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	583	BBS2	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	4117	MAK	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	25794	FSCN2	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	375298	CERKL	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	3420	IDH3B	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	57670	KIAA1549	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	7275	TUB	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	24148	PRPF6	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	23418	CRB1	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	10461	MERTK	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	57709	SLC7A14	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	768206	PRCD	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	7399	USH2A	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	23370	ARHGEF18	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	5949	RBP3	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	6010	RHO	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	6100	RP9	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	10002	NR2E3	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	9227	LRAT	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	84140	FAM161A	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	55812	SPATA7	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	55624	POMGNT1	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	79797	ZNF408	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	403	ARL3	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	5145	PDE6A	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	10210	TOPORS	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	8842	PROM1	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	9128	PRPF4	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	145226	RDH12	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	50939	IMPG2	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	57545	CC2D2A	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	8481	OFD1	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	49855	SCAPER	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	9742	IFT140	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	2979	GUCA1B	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	1259	CNGA1	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	1258	CNGB1	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	60509	AGBL5	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	5961	PRPH2	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	388939	PCARE	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	7439	BEST1	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	9785	DHX38	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	7287	TULP1	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	5995	RGR	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	9129	PRPF3	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	55975	KLHL7	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	3617	IMPG1	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	94137	RP1L1	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	5158	PDE6B	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	6102	RP2	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	55857	KIZ	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	64218	SEMA4A	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	4901	NRL	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	157657	CFAP418	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	10594	PRPF8	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	84100	ARL6	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	6295	SAG	ORPHA:791
HP:0030488	Abnormal central response of multifocal electroretinogram	79947	DHDDS	ORPHA:791
HP:0030493	Abnormality of foveal pigmentation	146167	SLC38A8	OMIM:609218
HP:0030493	Abnormality of foveal pigmentation	3617	IMPG1	OMIM:153870
HP:0030493	Abnormality of foveal pigmentation	1495	CTNNA1	OMIM:608970
HP:0030493	Abnormality of foveal pigmentation	9364	RAB28	OMIM:615374
HP:0030493	Abnormality of foveal pigmentation	348	APOE	OMIM:603075
HP:0030493	Abnormality of foveal pigmentation	10878	CFHR3	OMIM:603075
HP:0030493	Abnormality of foveal pigmentation	83872	HMCN1	OMIM:603075
HP:0030493	Abnormality of foveal pigmentation	3078	CFHR1	OMIM:603075
HP:0030491	Choriocapillaris atrophy	94	ACVRL1	OMIM:600376
HP:0030491	Choriocapillaris atrophy	1001	CDH3	OMIM:601553
HP:0030491	Choriocapillaris atrophy	285440	CYP4V2	ORPHA:41751
HP:0030491	Choriocapillaris atrophy	7078	TIMP3	ORPHA:59181
HP:0030491	Choriocapillaris atrophy	23418	CRB1	OMIM:613835
HP:0030491	Choriocapillaris atrophy	3000	GUCY2D	OMIM:215500
HP:0030491	Choriocapillaris atrophy	3000	GUCY2D	ORPHA:75377
HP:0030491	Choriocapillaris atrophy	5961	PRPH2	ORPHA:75377
HP:0030491	Choriocapillaris atrophy	2978	GUCA1A	ORPHA:75377
HP:0001161	Hand polydactyly	9851	KIAA0753	ORPHA:475
HP:0001161	Hand polydactyly	9851	KIAA0753	ORPHA:2754
HP:0001161	Hand polydactyly	5147	PDE6D	ORPHA:475
HP:0001161	Hand polydactyly	5147	PDE6D	ORPHA:2754
HP:0001161	Hand polydactyly	79600	TCTN1	ORPHA:475
HP:0001161	Hand polydactyly	79848	CSPP1	ORPHA:475
HP:0001161	Hand polydactyly	8481	OFD1	ORPHA:475
HP:0001161	Hand polydactyly	8481	OFD1	ORPHA:2750
HP:0001161	Hand polydactyly	8481	OFD1	ORPHA:2754
HP:0001161	Hand polydactyly	51684	SUFU	ORPHA:475
HP:0001161	Hand polydactyly	54806	AHI1	ORPHA:475
HP:0001161	Hand polydactyly	54806	AHI1	ORPHA:220493
HP:0001161	Hand polydactyly	153241	CEP120	ORPHA:475
HP:0001161	Hand polydactyly	153241	CEP120	ORPHA:220493
HP:0001161	Hand polydactyly	65250	CPLANE1	ORPHA:475
HP:0001161	Hand polydactyly	65250	CPLANE1	ORPHA:2754
HP:0001161	Hand polydactyly	91147	TMEM67	ORPHA:475
HP:0001161	Hand polydactyly	200894	ARL13B	ORPHA:475
HP:0001161	Hand polydactyly	9731	CEP104	ORPHA:475
HP:0001161	Hand polydactyly	219844	HYLS1	ORPHA:475
HP:0001161	Hand polydactyly	23247	KATNIP	ORPHA:475
HP:0001161	Hand polydactyly	219854	TMEM218	ORPHA:475
HP:0001161	Hand polydactyly	54903	MKS1	ORPHA:475
HP:0001161	Hand polydactyly	54903	MKS1	ORPHA:220493
HP:0001161	Hand polydactyly	95681	CEP41	ORPHA:475
HP:0001161	Hand polydactyly	95681	CEP41	ORPHA:220493
HP:0001161	Hand polydactyly	9786	KIAA0586	ORPHA:475
HP:0001161	Hand polydactyly	56623	INPP5E	ORPHA:475
HP:0001161	Hand polydactyly	56623	INPP5E	ORPHA:220493
HP:0001161	Hand polydactyly	26123	TCTN3	ORPHA:475
HP:0001161	Hand polydactyly	26123	TCTN3	ORPHA:2754
HP:0001161	Hand polydactyly	26123	TCTN3	OMIM:258860
HP:0001161	Hand polydactyly	79867	TCTN2	ORPHA:475
HP:0001161	Hand polydactyly	80776	B9D2	ORPHA:475
HP:0001161	Hand polydactyly	10464	PIBF1	ORPHA:475
HP:0001161	Hand polydactyly	80210	ARMC9	ORPHA:475
HP:0001161	Hand polydactyly	23116	TOGARAM1	ORPHA:475
HP:0001161	Hand polydactyly	25776	CBY1	ORPHA:475
HP:0001161	Hand polydactyly	27077	B9D1	ORPHA:475
HP:0001161	Hand polydactyly	403	ARL3	ORPHA:475
HP:0001161	Hand polydactyly	80173	IFT74	ORPHA:475
HP:0001161	Hand polydactyly	65062	TMEM237	ORPHA:475
HP:0001161	Hand polydactyly	65062	TMEM237	ORPHA:220497
HP:0001161	Hand polydactyly	65062	TMEM237	ORPHA:2318
HP:0001161	Hand polydactyly	10682	EBP	ORPHA:401973
HP:0001161	Hand polydactyly	64840	PORCN	ORPHA:2092
HP:0001161	Hand polydactyly	5626	PROP1	ORPHA:226307
HP:0001161	Hand polydactyly	89884	LHX4	ORPHA:226307
HP:0001161	Hand polydactyly	8022	LHX3	ORPHA:226307
HP:0001161	Hand polydactyly	5449	POU1F1	ORPHA:226307
HP:0001161	Hand polydactyly	8820	HESX1	ORPHA:226307
HP:0001161	Hand polydactyly	1947	EFNB1	ORPHA:1520
HP:0001161	Hand polydactyly	5290	PIK3CA	ORPHA:60040
HP:0001161	Hand polydactyly	10908	PNPLA6	ORPHA:2377
HP:0001161	Hand polydactyly	51	ACOX1	ORPHA:2971
HP:0001161	Hand polydactyly	7547	ZIC3	OMIM:314390
HP:0001161	Hand polydactyly	2187	FANCB	OMIM:314390
HP:0001161	Hand polydactyly	23322	RPGRIP1L	ORPHA:220497
HP:0001161	Hand polydactyly	4867	NPHP1	ORPHA:220497
HP:0001161	Hand polydactyly	641	BLM	OMIM:210900
HP:0001161	Hand polydactyly	2314	FLII	ORPHA:819
HP:0001161	Hand polydactyly	23096	IQSEC2	ORPHA:819
HP:0001161	Hand polydactyly	10743	RAI1	ORPHA:819
HP:0001161	Hand polydactyly	10522	DEAF1	ORPHA:819
HP:0001161	Hand polydactyly	26154	ABCA12	ORPHA:457
HP:0001161	Hand polydactyly	8241	RBM10	ORPHA:2886
HP:0001161	Hand polydactyly	7021	TFAP2B	ORPHA:46627
HP:0001161	Hand polydactyly	10225	CD96	ORPHA:1308
HP:0001161	Hand polydactyly	4750	NEK1	ORPHA:2751
HP:0001161	Hand polydactyly	1312	COMT	ORPHA:567
HP:0001161	Hand polydactyly	221037	JMJD1C	ORPHA:567
HP:0001161	Hand polydactyly	2812	GP1BB	ORPHA:567
HP:0001161	Hand polydactyly	6239	RREB1	ORPHA:567
HP:0001161	Hand polydactyly	6899	TBX1	ORPHA:567
HP:0001161	Hand polydactyly	7290	HIRA	ORPHA:567
HP:0001161	Hand polydactyly	9632	SEC24C	ORPHA:567
HP:0001161	Hand polydactyly	7353	UFD1	ORPHA:567
HP:0001161	Hand polydactyly	421	ARVCF	ORPHA:567
HP:0001161	Hand polydactyly	79583	TMEM231	ORPHA:2318
HP:0001161	Hand polydactyly	79583	TMEM231	ORPHA:2754
HP:0001161	Hand polydactyly	51524	TMEM138	ORPHA:2318
HP:0001161	Hand polydactyly	23090	ZNF423	ORPHA:2318
HP:0001161	Hand polydactyly	80184	CEP290	ORPHA:2318
HP:0001161	Hand polydactyly	51259	TMEM216	ORPHA:2318
HP:0001161	Hand polydactyly	51259	TMEM216	ORPHA:2754
HP:0001161	Hand polydactyly	57545	CC2D2A	ORPHA:2318
HP:0001161	Hand polydactyly	2697	GJA1	ORPHA:2710
HP:0001161	Hand polydactyly	10210	TOPORS	ORPHA:2754
HP:0001161	Hand polydactyly	317662	FAM149B1	ORPHA:2754
HP:0001161	Hand polydactyly	374654	KIF7	ORPHA:2754
HP:0001161	Hand polydactyly	64327	LMBR1	OMIM:135750
HP:0001161	Hand polydactyly	64327	LMBR1	ORPHA:93405
HP:0001161	Hand polydactyly	9897	WASHC5	ORPHA:7
HP:0001161	Hand polydactyly	28952	CCDC22	ORPHA:7
HP:0001161	Hand polydactyly	57020	VPS35L	ORPHA:7
HP:0001161	Hand polydactyly	56896	DPYSL5	ORPHA:7
HP:0001161	Hand polydactyly	5566	PRKACA	ORPHA:289
HP:0001161	Hand polydactyly	5567	PRKACB	ORPHA:289
HP:0001161	Hand polydactyly	2735	GLI1	ORPHA:289
HP:0001161	Hand polydactyly	2121	EVC	ORPHA:289
HP:0001161	Hand polydactyly	51626	DYNC2LI1	ORPHA:289
HP:0001161	Hand polydactyly	132884	EVC2	ORPHA:289
HP:0001161	Hand polydactyly	25970	SH2B1	ORPHA:261197
HP:0001161	Hand polydactyly	5728	PTEN	ORPHA:65285
HP:0001161	Hand polydactyly	6469	SHH	ORPHA:93405
HP:0001161	Hand polydactyly	55636	CHD7	OMIM:214800
HP:0001161	Hand polydactyly	2313	FLI1	ORPHA:2308
HP:0001161	Hand polydactyly	2737	GLI3	ORPHA:672
HP:0001161	Hand polydactyly	2737	GLI3	ORPHA:36
HP:0001161	Hand polydactyly	2737	GLI3	ORPHA:380
HP:0001161	Hand polydactyly	2737	GLI3	OMIM:146510
HP:0001161	Hand polydactyly	2737	GLI3	OMIM:175700
HP:0001161	Hand polydactyly	2737	GLI3	OMIM:174200
HP:0001161	Hand polydactyly	6309	SC5D	ORPHA:46059
HP:0001161	Hand polydactyly	6309	SC5D	OMIM:607330
HP:0001161	Hand polydactyly	894	CCND2	ORPHA:83473
HP:0001161	Hand polydactyly	894	CCND2	OMIM:615938
HP:0001161	Hand polydactyly	5296	PIK3R2	ORPHA:83473
HP:0001161	Hand polydactyly	10000	AKT3	ORPHA:83473
HP:0001161	Hand polydactyly	10000	AKT3	OMIM:615937
HP:0001161	Hand polydactyly	26160	IFT172	OMIM:615630
HP:0001161	Hand polydactyly	26160	IFT172	ORPHA:474
HP:0001161	Hand polydactyly	26160	IFT172	OMIM:619471
HP:0001161	Hand polydactyly	54585	LZTFL1	OMIM:615994
HP:0001161	Hand polydactyly	57539	WDR35	OMIM:613610
HP:0001161	Hand polydactyly	57539	WDR35	ORPHA:93271
HP:0001161	Hand polydactyly	8195	MKKS	OMIM:236700
HP:0001161	Hand polydactyly	8195	MKKS	ORPHA:2473
HP:0001161	Hand polydactyly	55593	OTUD5	OMIM:301056
HP:0001161	Hand polydactyly	55112	DYNC2I1	ORPHA:93271
HP:0001161	Hand polydactyly	55112	DYNC2I1	ORPHA:474
HP:0001161	Hand polydactyly	57560	IFT80	ORPHA:93271
HP:0001161	Hand polydactyly	57560	IFT80	ORPHA:474
HP:0001161	Hand polydactyly	57560	IFT80	OMIM:611263
HP:0001161	Hand polydactyly	79659	DYNC2H1	ORPHA:93271
HP:0001161	Hand polydactyly	79659	DYNC2H1	ORPHA:474
HP:0001161	Hand polydactyly	89891	DYNC2I2	ORPHA:93271
HP:0001161	Hand polydactyly	89891	DYNC2I2	ORPHA:474
HP:0001161	Hand polydactyly	83479	DDX59	OMIM:174300
HP:0001161	Hand polydactyly	83479	DDX59	ORPHA:2919
HP:0001161	Hand polydactyly	4149	MAX	OMIM:620712
HP:0001161	Hand polydactyly	1717	DHCR7	ORPHA:818
HP:0001161	Hand polydactyly	1717	DHCR7	OMIM:270400
HP:0001161	Hand polydactyly	6926	TBX3	ORPHA:3138
HP:0001161	Hand polydactyly	6926	TBX3	OMIM:181450
HP:0001161	Hand polydactyly	7476	WNT7A	OMIM:228930
HP:0001161	Hand polydactyly	83871	RAB34	OMIM:620718
HP:0001161	Hand polydactyly	84100	ARL6	OMIM:209900
HP:0001161	Hand polydactyly	79140	CCDC28B	OMIM:209900
HP:0001161	Hand polydactyly	582	BBS1	OMIM:209900
HP:0001161	Hand polydactyly	51057	WDPCP	OMIM:217085
HP:0001161	Hand polydactyly	3209	HOXA13	ORPHA:2438
HP:0001161	Hand polydactyly	3209	HOXA13	OMIM:176305
HP:0001161	Hand polydactyly	64093	SMOC1	ORPHA:1106
HP:0001161	Hand polydactyly	64093	SMOC1	OMIM:206920
HP:0001161	Hand polydactyly	84314	TMEM107	ORPHA:564
HP:0001161	Hand polydactyly	84314	TMEM107	OMIM:617563
HP:0001161	Hand polydactyly	57096	RPGRIP1	ORPHA:564
HP:0001161	Hand polydactyly	79770	TXNDC15	ORPHA:564
HP:0001161	Hand polydactyly	79770	TXNDC15	OMIM:619879
HP:0001161	Hand polydactyly	285600	KIAA0825	OMIM:618498
HP:0001161	Hand polydactyly	8200	GDF5	OMIM:113100
HP:0001161	Hand polydactyly	8200	GDF5	OMIM:200700
HP:0001161	Hand polydactyly	8200	GDF5	ORPHA:2098
HP:0001161	Hand polydactyly	51715	RAB23	ORPHA:65759
HP:0001161	Hand polydactyly	51715	RAB23	OMIM:201000
HP:0001161	Hand polydactyly	1954	MEGF8	ORPHA:65759
HP:0001161	Hand polydactyly	26005	C2CD3	OMIM:615948
HP:0001161	Hand polydactyly	26005	C2CD3	ORPHA:434179
HP:0001161	Hand polydactyly	26040	SETBP1	OMIM:269150
HP:0001161	Hand polydactyly	9742	IFT140	ORPHA:474
HP:0001161	Hand polydactyly	9742	IFT140	OMIM:266920
HP:0001161	Hand polydactyly	57728	WDR19	ORPHA:474
HP:0001161	Hand polydactyly	79809	TTC21B	ORPHA:474
HP:0001161	Hand polydactyly	79005	SCNM1	OMIM:620107
HP:0001161	Hand polydactyly	6608	SMO	OMIM:241800
HP:0001161	Hand polydactyly	658	BMPR1B	ORPHA:2098
HP:0001161	Hand polydactyly	54499	TMCO1	OMIM:213980
HP:0001161	Hand polydactyly	2736	GLI2	OMIM:610829
HP:0001161	Hand polydactyly	51360	MBTPS2	OMIM:308205
HP:0001161	Hand polydactyly	51360	MBTPS2	ORPHA:85284
HP:0001161	Hand polydactyly	9373	PLAA	ORPHA:521426
HP:0001161	Hand polydactyly	2316	FLNA	OMIM:304120
HP:0001161	Hand polydactyly	3930	LBR	OMIM:215140
HP:0001161	Hand polydactyly	2239	GPC4	ORPHA:373
HP:0001161	Hand polydactyly	2239	GPC4	OMIM:312870
HP:0001161	Hand polydactyly	2719	GPC3	ORPHA:373
HP:0001161	Hand polydactyly	2719	GPC3	OMIM:312870
HP:0001161	Hand polydactyly	727857	BHLHA9	ORPHA:3329
HP:0001161	Hand polydactyly	6910	TBX5	OMIM:142900
HP:0001161	Hand polydactyly	257	ALX3	OMIM:136760
HP:0001161	Hand polydactyly	23288	IQCE	OMIM:617642
HP:0001161	Hand polydactyly	583	BBS2	OMIM:615981
HP:0001161	Hand polydactyly	137392	CIBAR1	OMIM:618219
HP:0001161	Hand polydactyly	7700	ZNF141	OMIM:615226
HP:0001161	Hand polydactyly	7046	TGFBR1	OMIM:609192
HP:0001161	Hand polydactyly	166379	BBS12	OMIM:615989
HP:0001161	Hand polydactyly	27241	BBS9	OMIM:615986
HP:0001161	Hand polydactyly	157657	CFAP418	OMIM:617406
HP:0001161	Hand polydactyly	255758	DYNLT2B	OMIM:617405
HP:0001161	Hand polydactyly	2263	FGFR2	OMIM:101200
HP:0001161	Hand polydactyly	57167	SALL4	ORPHA:233
HP:0001161	Hand polydactyly	57167	SALL4	ORPHA:959
HP:0001161	Hand polydactyly	57167	SALL4	ORPHA:2307
HP:0001161	Hand polydactyly	9935	MAFB	ORPHA:233
HP:0001161	Hand polydactyly	1123	CHN1	ORPHA:233
HP:0001161	Hand polydactyly	2137	EXTL3	ORPHA:508533
HP:0001161	Hand polydactyly	22827	PUF60	ORPHA:508498
HP:0001161	Hand polydactyly	55027	HEATR3	OMIM:620072
HP:0001161	Hand polydactyly	6299	SALL1	OMIM:107480
HP:0001161	Hand polydactyly	6299	SALL1	ORPHA:857
HP:0001161	Hand polydactyly	374879	ZNF699	OMIM:619488
HP:0001161	Hand polydactyly	8318	CDC45	OMIM:617063
HP:0001161	Hand polydactyly	220296	HEPACAM	ORPHA:210548
HP:0001161	Hand polydactyly	51339	DACT1	ORPHA:857
HP:0001161	Hand polydactyly	57688	ZSWIM6	OMIM:603671
HP:0001161	Hand polydactyly	2177	FANCD2	OMIM:227646
HP:0001161	Hand polydactyly	23133	PHF8	ORPHA:85287
HP:0001161	Hand polydactyly	3239	HOXD13	ORPHA:887
HP:0001161	Hand polydactyly	7020	TFAP2A	OMIM:113620
HP:0001161	Hand polydactyly	7020	TFAP2A	ORPHA:1297
HP:0001161	Hand polydactyly	10815	CPLX1	ORPHA:280
HP:0001161	Hand polydactyly	10815	CPLX1	OMIM:194190
HP:0001161	Hand polydactyly	54872	PIGG	ORPHA:280
HP:0001161	Hand polydactyly	7469	NELFA	ORPHA:280
HP:0001161	Hand polydactyly	1487	CTBP1	ORPHA:280
HP:0001161	Hand polydactyly	1487	CTBP1	OMIM:194190
HP:0001161	Hand polydactyly	3954	LETM1	ORPHA:280
HP:0001161	Hand polydactyly	3954	LETM1	OMIM:194190
HP:0001161	Hand polydactyly	7468	NSD2	ORPHA:280
HP:0001161	Hand polydactyly	7468	NSD2	OMIM:194190
HP:0001161	Hand polydactyly	53834	FGFRL1	OMIM:194190
HP:0001161	Hand polydactyly	9343	EFTUD2	OMIM:610536
HP:0001161	Hand polydactyly	9343	EFTUD2	ORPHA:79113
HP:0001161	Hand polydactyly	11020	IFT27	OMIM:615996
HP:0001161	Hand polydactyly	51776	MAP3K20	OMIM:616890
HP:0001161	Hand polydactyly	7291	TWIST1	OMIM:101400
HP:0001161	Hand polydactyly	22856	CHSY1	ORPHA:363417
HP:0001166	Arachnodactyly	64132	XYLT2	OMIM:605822
HP:0001166	Arachnodactyly	4088	SMAD3	ORPHA:284984
HP:0001166	Arachnodactyly	4088	SMAD3	OMIM:613795
HP:0001166	Arachnodactyly	4088	SMAD3	ORPHA:60030
HP:0001166	Arachnodactyly	4088	SMAD3	ORPHA:91387
HP:0001166	Arachnodactyly	875	CBS	ORPHA:394
HP:0001166	Arachnodactyly	875	CBS	OMIM:236200
HP:0001166	Arachnodactyly	25970	SH2B1	ORPHA:261222
HP:0001166	Arachnodactyly	199857	ALG14	OMIM:619036
HP:0001166	Arachnodactyly	8925	HERC1	OMIM:617011
HP:0001166	Arachnodactyly	8925	HERC1	ORPHA:457359
HP:0001166	Arachnodactyly	1075	CTSC	OMIM:245010
HP:0001166	Arachnodactyly	1075	CTSC	ORPHA:678
HP:0001166	Arachnodactyly	5351	PLOD1	OMIM:225400
HP:0001166	Arachnodactyly	8076	MFAP5	OMIM:616166
HP:0001166	Arachnodactyly	8076	MFAP5	ORPHA:91387
HP:0001166	Arachnodactyly	652	BMP4	ORPHA:828
HP:0001166	Arachnodactyly	57122	NUP107	OMIM:618348
HP:0001166	Arachnodactyly	57122	NUP107	OMIM:616730
HP:0001166	Arachnodactyly	57122	NUP107	ORPHA:243
HP:0001166	Arachnodactyly	2200	FBN1	ORPHA:284979
HP:0001166	Arachnodactyly	2200	FBN1	OMIM:129600
HP:0001166	Arachnodactyly	2200	FBN1	OMIM:154700
HP:0001166	Arachnodactyly	2200	FBN1	OMIM:604308
HP:0001166	Arachnodactyly	2200	FBN1	OMIM:616914
HP:0001166	Arachnodactyly	2200	FBN1	ORPHA:2462
HP:0001166	Arachnodactyly	2200	FBN1	ORPHA:91387
HP:0001166	Arachnodactyly	2202	EFEMP1	OMIM:620780
HP:0001166	Arachnodactyly	5447	POR	ORPHA:95699
HP:0001166	Arachnodactyly	5447	POR	OMIM:207410
HP:0001166	Arachnodactyly	5447	POR	OMIM:201750
HP:0001166	Arachnodactyly	1301	COL11A1	OMIM:604841
HP:0001166	Arachnodactyly	91179	SCARF2	OMIM:600920
HP:0001166	Arachnodactyly	613	BCR	ORPHA:261330
HP:0001166	Arachnodactyly	1399	CRKL	ORPHA:261330
HP:0001166	Arachnodactyly	5594	MAPK1	ORPHA:261330
HP:0001166	Arachnodactyly	3021	H3-3B	OMIM:619721
HP:0001166	Arachnodactyly	80816	ASXL3	OMIM:615485
HP:0001166	Arachnodactyly	80816	ASXL3	ORPHA:352577
HP:0001166	Arachnodactyly	63895	PIEZO2	OMIM:617146
HP:0001166	Arachnodactyly	63895	PIEZO2	OMIM:108145
HP:0001166	Arachnodactyly	63895	PIEZO2	ORPHA:1154
HP:0001166	Arachnodactyly	63895	PIEZO2	OMIM:248700
HP:0001166	Arachnodactyly	63895	PIEZO2	ORPHA:2461
HP:0001166	Arachnodactyly	23314	SATB2	ORPHA:251019
HP:0001166	Arachnodactyly	23314	SATB2	OMIM:612313
HP:0001166	Arachnodactyly	2263	FGFR2	OMIM:207410
HP:0001166	Arachnodactyly	72	ACTG2	ORPHA:2604
HP:0001166	Arachnodactyly	2261	FGFR3	OMIM:610474
HP:0001166	Arachnodactyly	2201	FBN2	OMIM:121050
HP:0001166	Arachnodactyly	2201	FBN2	ORPHA:115
HP:0001166	Arachnodactyly	30008	EFEMP2	OMIM:614437
HP:0001166	Arachnodactyly	4882	NPR2	OMIM:615923
HP:0001166	Arachnodactyly	10084	PQBP1	ORPHA:93946
HP:0001166	Arachnodactyly	51114	ZDHHC9	ORPHA:776
HP:0001166	Arachnodactyly	51114	ZDHHC9	OMIM:300799
HP:0001166	Arachnodactyly	65109	UPF3B	ORPHA:776
HP:0001166	Arachnodactyly	9968	MED12	ORPHA:776
HP:0001166	Arachnodactyly	9968	MED12	OMIM:309520
HP:0001166	Arachnodactyly	79693	YRDC	OMIM:619609
HP:0001166	Arachnodactyly	1146	CHRNG	OMIM:265000
HP:0001166	Arachnodactyly	2316	FLNA	OMIM:305620
HP:0001166	Arachnodactyly	284058	KANSL1	ORPHA:363958
HP:0001166	Arachnodactyly	284058	KANSL1	ORPHA:363965
HP:0001166	Arachnodactyly	80204	FBXO11	OMIM:618089
HP:0001166	Arachnodactyly	1272	CNTN1	OMIM:612540
HP:0001166	Arachnodactyly	23476	BRD4	OMIM:620568
HP:0001166	Arachnodactyly	29920	PYCR2	ORPHA:481152
HP:0001166	Arachnodactyly	29920	PYCR2	OMIM:616420
HP:0001166	Arachnodactyly	29940	DSE	OMIM:615539
HP:0001166	Arachnodactyly	1312	COMT	ORPHA:567
HP:0001166	Arachnodactyly	221037	JMJD1C	ORPHA:567
HP:0001166	Arachnodactyly	2812	GP1BB	ORPHA:567
HP:0001166	Arachnodactyly	6239	RREB1	ORPHA:567
HP:0001166	Arachnodactyly	6899	TBX1	ORPHA:567
HP:0001166	Arachnodactyly	7290	HIRA	ORPHA:567
HP:0001166	Arachnodactyly	9632	SEC24C	ORPHA:567
HP:0001166	Arachnodactyly	7353	UFD1	ORPHA:567
HP:0001166	Arachnodactyly	421	ARVCF	ORPHA:567
HP:0001166	Arachnodactyly	444	ASPH	OMIM:601552
HP:0001166	Arachnodactyly	259232	NALCN	ORPHA:562528
HP:0001166	Arachnodactyly	259232	NALCN	ORPHA:371364
HP:0001166	Arachnodactyly	9839	ZEB2	ORPHA:261552
HP:0001166	Arachnodactyly	9839	ZEB2	ORPHA:261537
HP:0001166	Arachnodactyly	10815	CPLX1	ORPHA:280
HP:0001166	Arachnodactyly	54872	PIGG	ORPHA:280
HP:0001166	Arachnodactyly	7469	NELFA	ORPHA:280
HP:0001166	Arachnodactyly	1487	CTBP1	ORPHA:280
HP:0001166	Arachnodactyly	3954	LETM1	ORPHA:280
HP:0001166	Arachnodactyly	7468	NSD2	ORPHA:280
HP:0001166	Arachnodactyly	633	BGN	OMIM:300989
HP:0001166	Arachnodactyly	79576	NKAP	OMIM:301039
HP:0001166	Arachnodactyly	3188	HNRNPH2	OMIM:300986
HP:0001166	Arachnodactyly	25	ABL1	OMIM:617602
HP:0001166	Arachnodactyly	23152	CIC	OMIM:617600
HP:0001166	Arachnodactyly	649	BMP1	OMIM:614856
HP:0001166	Arachnodactyly	89910	UBE3B	ORPHA:2707
HP:0001166	Arachnodactyly	25942	SIN3A	OMIM:613406
HP:0001166	Arachnodactyly	26834	RNU4-2	OMIM:620851
HP:0001166	Arachnodactyly	55644	OSGEP	OMIM:617729
HP:0001166	Arachnodactyly	165	AEBP1	ORPHA:536532
HP:0001166	Arachnodactyly	11285	B4GALT7	ORPHA:75496
HP:0001166	Arachnodactyly	11285	B4GALT7	OMIM:130070
HP:0001166	Arachnodactyly	1798	DPAGT1	ORPHA:86309
HP:0001166	Arachnodactyly	6611	SMS	ORPHA:3063
HP:0001166	Arachnodactyly	157680	VPS13B	ORPHA:193
HP:0001166	Arachnodactyly	10526	IPO8	OMIM:619472
HP:0001166	Arachnodactyly	10526	IPO8	ORPHA:60030
HP:0001166	Arachnodactyly	8270	LAGE3	OMIM:301006
HP:0001166	Arachnodactyly	490	ATP2B1	OMIM:619910
HP:0001166	Arachnodactyly	285175	UNC80	ORPHA:371364
HP:0001166	Arachnodactyly	81031	SLC2A10	ORPHA:3342
HP:0001166	Arachnodactyly	81031	SLC2A10	OMIM:208050
HP:0001166	Arachnodactyly	4534	MTM1	OMIM:310400
HP:0001166	Arachnodactyly	1280	COL2A1	OMIM:108300
HP:0001166	Arachnodactyly	5184	PEPD	ORPHA:742
HP:0001166	Arachnodactyly	113189	CHST14	OMIM:601776
HP:0001166	Arachnodactyly	715	C1R	OMIM:130080
HP:0001166	Arachnodactyly	51633	OTUD6B	ORPHA:505237
HP:0001166	Arachnodactyly	60676	PAPPA2	OMIM:619489
HP:0001166	Arachnodactyly	1742	DLG4	OMIM:618793
HP:0001166	Arachnodactyly	6605	SMARCE1	OMIM:616938
HP:0001166	Arachnodactyly	11107	PRDM5	ORPHA:90354
HP:0001166	Arachnodactyly	84627	ZNF469	ORPHA:90354
HP:0001166	Arachnodactyly	139285	AMER1	OMIM:300373
HP:0001166	Arachnodactyly	3187	HNRNPH1	OMIM:620083
HP:0001166	Arachnodactyly	5727	PTCH1	ORPHA:377
HP:0001166	Arachnodactyly	8643	PTCH2	ORPHA:377
HP:0001166	Arachnodactyly	51684	SUFU	ORPHA:377
HP:0001166	Arachnodactyly	6497	SKI	OMIM:182212
HP:0001166	Arachnodactyly	6497	SKI	ORPHA:2462
HP:0001166	Arachnodactyly	126792	B3GALT6	ORPHA:536467
HP:0001166	Arachnodactyly	4677	NARS1	OMIM:619092
HP:0001166	Arachnodactyly	6651	SON	ORPHA:500150
HP:0001166	Arachnodactyly	2193	FARSA	OMIM:619013
HP:0001166	Arachnodactyly	10273	STUB1	ORPHA:412057
HP:0001166	Arachnodactyly	4087	SMAD2	OMIM:619656
HP:0001166	Arachnodactyly	4087	SMAD2	ORPHA:60030
HP:0001166	Arachnodactyly	4087	SMAD2	ORPHA:91387
HP:0001166	Arachnodactyly	7048	TGFBR2	OMIM:610168
HP:0001166	Arachnodactyly	7048	TGFBR2	ORPHA:60030
HP:0001166	Arachnodactyly	7048	TGFBR2	ORPHA:91387
HP:0001166	Arachnodactyly	10516	FBLN5	OMIM:219100
HP:0001166	Arachnodactyly	23133	PHF8	OMIM:300263
HP:0001166	Arachnodactyly	29893	PSMC3IP	ORPHA:243
HP:0001166	Arachnodactyly	171568	POLR3H	ORPHA:243
HP:0001166	Arachnodactyly	2516	NR5A1	ORPHA:243
HP:0001166	Arachnodactyly	125150	ZSWIM7	ORPHA:243
HP:0001166	Arachnodactyly	9210	BMP15	ORPHA:243
HP:0001166	Arachnodactyly	23514	SPIDR	ORPHA:243
HP:0001166	Arachnodactyly	2492	FSHR	ORPHA:243
HP:0001166	Arachnodactyly	56945	MRPS22	ORPHA:243
HP:0001166	Arachnodactyly	646	BNC1	ORPHA:243
HP:0001166	Arachnodactyly	4438	MSH4	ORPHA:243
HP:0001166	Arachnodactyly	5965	RECQL	OMIM:620370
HP:0001166	Arachnodactyly	55553	SOX6	OMIM:618971
HP:0001166	Arachnodactyly	4883	NPR3	OMIM:619543
HP:0001166	Arachnodactyly	7043	TGFB3	OMIM:615582
HP:0001166	Arachnodactyly	7043	TGFB3	ORPHA:60030
HP:0001166	Arachnodactyly	7043	TGFB3	ORPHA:91387
HP:0001166	Arachnodactyly	7046	TGFBR1	ORPHA:60030
HP:0001166	Arachnodactyly	7046	TGFBR1	OMIM:609192
HP:0001166	Arachnodactyly	7046	TGFBR1	ORPHA:91387
HP:0001166	Arachnodactyly	7042	TGFB2	ORPHA:60030
HP:0001166	Arachnodactyly	7042	TGFB2	OMIM:614816
HP:0001166	Arachnodactyly	7042	TGFB2	ORPHA:91387
HP:0001166	Arachnodactyly	56603	CYP26B1	OMIM:614416
HP:0001166	Arachnodactyly	4629	MYH11	ORPHA:91387
HP:0001166	Arachnodactyly	4015	LOX	ORPHA:91387
HP:0001166	Arachnodactyly	4089	SMAD4	ORPHA:91387
HP:0001166	Arachnodactyly	59	ACTA2	ORPHA:91387
HP:0001166	Arachnodactyly	5592	PRKG1	ORPHA:91387
HP:0001166	Arachnodactyly	2301	FOXE3	ORPHA:91387
HP:0001166	Arachnodactyly	4144	MAT2A	ORPHA:91387
HP:0001166	Arachnodactyly	23493	HEY2	ORPHA:91387
HP:0001166	Arachnodactyly	4638	MYLK	ORPHA:91387
HP:0001166	Arachnodactyly	79875	THSD4	ORPHA:91387
HP:0001166	Arachnodactyly	2006	ELN	ORPHA:91387
HP:0001167	Abnormal finger morphology	54806	AHI1	ORPHA:475
HP:0001167	Abnormal finger morphology	54806	AHI1	ORPHA:220493
HP:0001167	Abnormal finger morphology	200894	ARL13B	ORPHA:475
HP:0001167	Abnormal finger morphology	9731	CEP104	ORPHA:475
HP:0001167	Abnormal finger morphology	23247	KATNIP	ORPHA:475
HP:0001167	Abnormal finger morphology	95681	CEP41	ORPHA:475
HP:0001167	Abnormal finger morphology	95681	CEP41	ORPHA:220493
HP:0001167	Abnormal finger morphology	9786	KIAA0586	ORPHA:475
HP:0001167	Abnormal finger morphology	10464	PIBF1	ORPHA:475
HP:0001167	Abnormal finger morphology	23116	TOGARAM1	ORPHA:475
HP:0001167	Abnormal finger morphology	25776	CBY1	ORPHA:475
HP:0001167	Abnormal finger morphology	403	ARL3	ORPHA:475
HP:0001167	Abnormal finger morphology	80173	IFT74	ORPHA:475
HP:0001167	Abnormal finger morphology	5290	PIK3CA	ORPHA:60040
HP:0001167	Abnormal finger morphology	51	ACOX1	ORPHA:2971
HP:0001167	Abnormal finger morphology	4867	NPHP1	ORPHA:220497
HP:0001167	Abnormal finger morphology	8241	RBM10	ORPHA:2886
HP:0001167	Abnormal finger morphology	51524	TMEM138	ORPHA:2318
HP:0001167	Abnormal finger morphology	23090	ZNF423	ORPHA:2318
HP:0001167	Abnormal finger morphology	9897	WASHC5	ORPHA:7
HP:0001167	Abnormal finger morphology	57020	VPS35L	ORPHA:7
HP:0001167	Abnormal finger morphology	5566	PRKACA	ORPHA:289
HP:0001167	Abnormal finger morphology	2313	FLI1	ORPHA:2308
HP:0001167	Abnormal finger morphology	6309	SC5D	ORPHA:46059
HP:0001167	Abnormal finger morphology	6309	SC5D	OMIM:607330
HP:0001167	Abnormal finger morphology	894	CCND2	ORPHA:83473
HP:0001167	Abnormal finger morphology	894	CCND2	OMIM:615938
HP:0001167	Abnormal finger morphology	5296	PIK3R2	ORPHA:83473
HP:0001167	Abnormal finger morphology	10000	AKT3	ORPHA:83473
HP:0001167	Abnormal finger morphology	10000	AKT3	OMIM:615937
HP:0001167	Abnormal finger morphology	26160	IFT172	OMIM:615630
HP:0001167	Abnormal finger morphology	26160	IFT172	ORPHA:474
HP:0001167	Abnormal finger morphology	26160	IFT172	OMIM:619471
HP:0001167	Abnormal finger morphology	54585	LZTFL1	OMIM:615994
HP:0001167	Abnormal finger morphology	8195	MKKS	OMIM:236700
HP:0001167	Abnormal finger morphology	8195	MKKS	ORPHA:2473
HP:0001167	Abnormal finger morphology	56623	INPP5E	OMIM:213300
HP:0001167	Abnormal finger morphology	56623	INPP5E	ORPHA:1454
HP:0001167	Abnormal finger morphology	4149	MAX	OMIM:620712
HP:0001167	Abnormal finger morphology	51057	WDPCP	OMIM:217085
HP:0001167	Abnormal finger morphology	3209	HOXA13	ORPHA:2438
HP:0001167	Abnormal finger morphology	3209	HOXA13	OMIM:176305
HP:0001167	Abnormal finger morphology	285600	KIAA0825	OMIM:618498
HP:0001167	Abnormal finger morphology	1954	MEGF8	ORPHA:65759
HP:0001167	Abnormal finger morphology	26005	C2CD3	OMIM:615948
HP:0001167	Abnormal finger morphology	26005	C2CD3	ORPHA:434179
HP:0001167	Abnormal finger morphology	153241	CEP120	ORPHA:474
HP:0001167	Abnormal finger morphology	51626	DYNC2LI1	ORPHA:474
HP:0001167	Abnormal finger morphology	51626	DYNC2LI1	OMIM:617088
HP:0001167	Abnormal finger morphology	9742	IFT140	ORPHA:474
HP:0001167	Abnormal finger morphology	9742	IFT140	OMIM:266920
HP:0001167	Abnormal finger morphology	57728	WDR19	ORPHA:474
HP:0001167	Abnormal finger morphology	79809	TTC21B	ORPHA:474
HP:0001167	Abnormal finger morphology	64840	PORCN	OMIM:305600
HP:0001167	Abnormal finger morphology	79005	SCNM1	OMIM:620107
HP:0001167	Abnormal finger morphology	2736	GLI2	OMIM:610829
HP:0001167	Abnormal finger morphology	51360	MBTPS2	OMIM:308205
HP:0001167	Abnormal finger morphology	51360	MBTPS2	ORPHA:85284
HP:0001167	Abnormal finger morphology	80210	ARMC9	OMIM:617622
HP:0001167	Abnormal finger morphology	3930	LBR	OMIM:215140
HP:0001167	Abnormal finger morphology	2239	GPC4	ORPHA:373
HP:0001167	Abnormal finger morphology	2239	GPC4	OMIM:312870
HP:0001167	Abnormal finger morphology	2719	GPC3	ORPHA:373
HP:0001167	Abnormal finger morphology	2719	GPC3	OMIM:312870
HP:0001167	Abnormal finger morphology	23288	IQCE	OMIM:617642
HP:0001167	Abnormal finger morphology	583	BBS2	OMIM:615981
HP:0001167	Abnormal finger morphology	5567	PRKACB	OMIM:619143
HP:0001167	Abnormal finger morphology	137392	CIBAR1	OMIM:618219
HP:0001167	Abnormal finger morphology	7700	ZNF141	OMIM:615226
HP:0001167	Abnormal finger morphology	166379	BBS12	OMIM:615989
HP:0001167	Abnormal finger morphology	27241	BBS9	OMIM:615986
HP:0001167	Abnormal finger morphology	157657	CFAP418	OMIM:617406
HP:0001167	Abnormal finger morphology	255758	DYNLT2B	OMIM:617405
HP:0001167	Abnormal finger morphology	4088	SMAD3	ORPHA:284984
HP:0001167	Abnormal finger morphology	4088	SMAD3	OMIM:613795
HP:0001167	Abnormal finger morphology	4088	SMAD3	ORPHA:60030
HP:0001167	Abnormal finger morphology	4088	SMAD3	ORPHA:91387
HP:0001167	Abnormal finger morphology	875	CBS	ORPHA:394
HP:0001167	Abnormal finger morphology	875	CBS	OMIM:236200
HP:0001167	Abnormal finger morphology	25970	SH2B1	ORPHA:261222
HP:0001167	Abnormal finger morphology	199857	ALG14	OMIM:619036
HP:0001167	Abnormal finger morphology	8925	HERC1	OMIM:617011
HP:0001167	Abnormal finger morphology	8925	HERC1	ORPHA:457359
HP:0001167	Abnormal finger morphology	1075	CTSC	OMIM:245010
HP:0001167	Abnormal finger morphology	1075	CTSC	ORPHA:678
HP:0001167	Abnormal finger morphology	5351	PLOD1	OMIM:225400
HP:0001167	Abnormal finger morphology	8076	MFAP5	OMIM:616166
HP:0001167	Abnormal finger morphology	8076	MFAP5	ORPHA:91387
HP:0001167	Abnormal finger morphology	2202	EFEMP1	OMIM:620780
HP:0001167	Abnormal finger morphology	5447	POR	ORPHA:95699
HP:0001167	Abnormal finger morphology	5447	POR	OMIM:207410
HP:0001167	Abnormal finger morphology	5447	POR	OMIM:201750
HP:0001167	Abnormal finger morphology	91179	SCARF2	OMIM:600920
HP:0001167	Abnormal finger morphology	613	BCR	ORPHA:261330
HP:0001167	Abnormal finger morphology	1399	CRKL	ORPHA:261330
HP:0001167	Abnormal finger morphology	5594	MAPK1	ORPHA:261330
HP:0001167	Abnormal finger morphology	80816	ASXL3	OMIM:615485
HP:0001167	Abnormal finger morphology	80816	ASXL3	ORPHA:352577
HP:0001167	Abnormal finger morphology	72	ACTG2	ORPHA:2604
HP:0001167	Abnormal finger morphology	10084	PQBP1	ORPHA:93946
HP:0001167	Abnormal finger morphology	51114	ZDHHC9	ORPHA:776
HP:0001167	Abnormal finger morphology	51114	ZDHHC9	OMIM:300799
HP:0001167	Abnormal finger morphology	65109	UPF3B	ORPHA:776
HP:0001167	Abnormal finger morphology	1146	CHRNG	OMIM:265000
HP:0001167	Abnormal finger morphology	1272	CNTN1	OMIM:612540
HP:0001167	Abnormal finger morphology	23476	BRD4	OMIM:620568
HP:0001167	Abnormal finger morphology	29920	PYCR2	ORPHA:481152
HP:0001167	Abnormal finger morphology	29920	PYCR2	OMIM:616420
HP:0001167	Abnormal finger morphology	1312	COMT	ORPHA:567
HP:0001167	Abnormal finger morphology	221037	JMJD1C	ORPHA:567
HP:0001167	Abnormal finger morphology	2812	GP1BB	ORPHA:567
HP:0001167	Abnormal finger morphology	6239	RREB1	ORPHA:567
HP:0001167	Abnormal finger morphology	6899	TBX1	ORPHA:567
HP:0001167	Abnormal finger morphology	7290	HIRA	ORPHA:567
HP:0001167	Abnormal finger morphology	9632	SEC24C	ORPHA:567
HP:0001167	Abnormal finger morphology	7353	UFD1	ORPHA:567
HP:0001167	Abnormal finger morphology	421	ARVCF	ORPHA:567
HP:0001167	Abnormal finger morphology	444	ASPH	OMIM:601552
HP:0001167	Abnormal finger morphology	633	BGN	OMIM:300989
HP:0001167	Abnormal finger morphology	79576	NKAP	OMIM:301039
HP:0001167	Abnormal finger morphology	25	ABL1	OMIM:617602
HP:0001167	Abnormal finger morphology	23152	CIC	OMIM:617600
HP:0001167	Abnormal finger morphology	649	BMP1	OMIM:614856
HP:0001167	Abnormal finger morphology	89910	UBE3B	ORPHA:2707
HP:0001167	Abnormal finger morphology	165	AEBP1	ORPHA:536532
HP:0001167	Abnormal finger morphology	11285	B4GALT7	ORPHA:75496
HP:0001167	Abnormal finger morphology	11285	B4GALT7	OMIM:130070
HP:0001167	Abnormal finger morphology	1798	DPAGT1	ORPHA:86309
HP:0001167	Abnormal finger morphology	157680	VPS13B	ORPHA:193
HP:0001167	Abnormal finger morphology	10526	IPO8	OMIM:619472
HP:0001167	Abnormal finger morphology	10526	IPO8	ORPHA:60030
HP:0001167	Abnormal finger morphology	490	ATP2B1	OMIM:619910
HP:0001167	Abnormal finger morphology	285175	UNC80	ORPHA:371364
HP:0001167	Abnormal finger morphology	81031	SLC2A10	ORPHA:3342
HP:0001167	Abnormal finger morphology	81031	SLC2A10	OMIM:208050
HP:0001167	Abnormal finger morphology	4534	MTM1	OMIM:310400
HP:0001167	Abnormal finger morphology	1280	COL2A1	OMIM:108300
HP:0001167	Abnormal finger morphology	5184	PEPD	ORPHA:742
HP:0001167	Abnormal finger morphology	715	C1R	OMIM:130080
HP:0001167	Abnormal finger morphology	51633	OTUD6B	ORPHA:505237
HP:0001167	Abnormal finger morphology	1742	DLG4	OMIM:618793
HP:0001167	Abnormal finger morphology	6605	SMARCE1	OMIM:616938
HP:0001167	Abnormal finger morphology	11107	PRDM5	ORPHA:90354
HP:0001167	Abnormal finger morphology	84627	ZNF469	ORPHA:90354
HP:0001167	Abnormal finger morphology	139285	AMER1	OMIM:300373
HP:0001167	Abnormal finger morphology	5727	PTCH1	ORPHA:377
HP:0001167	Abnormal finger morphology	8643	PTCH2	ORPHA:377
HP:0001167	Abnormal finger morphology	51684	SUFU	ORPHA:377
HP:0001167	Abnormal finger morphology	6497	SKI	OMIM:182212
HP:0001167	Abnormal finger morphology	6497	SKI	ORPHA:2462
HP:0001167	Abnormal finger morphology	4677	NARS1	OMIM:619092
HP:0001167	Abnormal finger morphology	6651	SON	ORPHA:500150
HP:0001167	Abnormal finger morphology	2193	FARSA	OMIM:619013
HP:0001167	Abnormal finger morphology	4087	SMAD2	OMIM:619656
HP:0001167	Abnormal finger morphology	4087	SMAD2	ORPHA:60030
HP:0001167	Abnormal finger morphology	4087	SMAD2	ORPHA:91387
HP:0001167	Abnormal finger morphology	7048	TGFBR2	OMIM:610168
HP:0001167	Abnormal finger morphology	7048	TGFBR2	ORPHA:60030
HP:0001167	Abnormal finger morphology	7048	TGFBR2	ORPHA:91387
HP:0001167	Abnormal finger morphology	29893	PSMC3IP	ORPHA:243
HP:0001167	Abnormal finger morphology	171568	POLR3H	ORPHA:243
HP:0001167	Abnormal finger morphology	2516	NR5A1	ORPHA:243
HP:0001167	Abnormal finger morphology	125150	ZSWIM7	ORPHA:243
HP:0001167	Abnormal finger morphology	9210	BMP15	ORPHA:243
HP:0001167	Abnormal finger morphology	23514	SPIDR	ORPHA:243
HP:0001167	Abnormal finger morphology	2492	FSHR	ORPHA:243
HP:0001167	Abnormal finger morphology	56945	MRPS22	ORPHA:243
HP:0001167	Abnormal finger morphology	646	BNC1	ORPHA:243
HP:0001167	Abnormal finger morphology	4438	MSH4	ORPHA:243
HP:0001167	Abnormal finger morphology	55553	SOX6	OMIM:618971
HP:0001167	Abnormal finger morphology	7043	TGFB3	OMIM:615582
HP:0001167	Abnormal finger morphology	7043	TGFB3	ORPHA:60030
HP:0001167	Abnormal finger morphology	7043	TGFB3	ORPHA:91387
HP:0001167	Abnormal finger morphology	7046	TGFBR1	ORPHA:60030
HP:0001167	Abnormal finger morphology	7046	TGFBR1	OMIM:609192
HP:0001167	Abnormal finger morphology	7046	TGFBR1	ORPHA:91387
HP:0001167	Abnormal finger morphology	7042	TGFB2	ORPHA:60030
HP:0001167	Abnormal finger morphology	7042	TGFB2	OMIM:614816
HP:0001167	Abnormal finger morphology	7042	TGFB2	ORPHA:91387
HP:0001167	Abnormal finger morphology	56603	CYP26B1	OMIM:614416
HP:0001167	Abnormal finger morphology	4629	MYH11	ORPHA:91387
HP:0001167	Abnormal finger morphology	4015	LOX	ORPHA:91387
HP:0001167	Abnormal finger morphology	4089	SMAD4	ORPHA:91387
HP:0001167	Abnormal finger morphology	59	ACTA2	ORPHA:91387
HP:0001167	Abnormal finger morphology	5592	PRKG1	ORPHA:91387
HP:0001167	Abnormal finger morphology	2301	FOXE3	ORPHA:91387
HP:0001167	Abnormal finger morphology	4144	MAT2A	ORPHA:91387
HP:0001167	Abnormal finger morphology	23493	HEY2	ORPHA:91387
HP:0001167	Abnormal finger morphology	4638	MYLK	ORPHA:91387
HP:0001167	Abnormal finger morphology	79875	THSD4	ORPHA:91387
HP:0001167	Abnormal finger morphology	23394	ADNP	ORPHA:404448
HP:0001167	Abnormal finger morphology	1593	CYP27A1	ORPHA:909
HP:0001167	Abnormal finger morphology	9791	PTDSS1	ORPHA:2658
HP:0001167	Abnormal finger morphology	100151683	RNU4ATAC	ORPHA:2636
HP:0001167	Abnormal finger morphology	157570	ESCO2	ORPHA:2319
HP:0001167	Abnormal finger morphology	4893	NRAS	OMIM:163200
HP:0001167	Abnormal finger morphology	3845	KRAS	OMIM:163200
HP:0001167	Abnormal finger morphology	3265	HRAS	OMIM:163200
HP:0001167	Abnormal finger morphology	526	ATP6V1B2	ORPHA:79500
HP:0001167	Abnormal finger morphology	57465	TBC1D24	ORPHA:79500
HP:0001167	Abnormal finger morphology	207	AKT1	ORPHA:744
HP:0001167	Abnormal finger morphology	6595	SMARCA2	ORPHA:3051
HP:0001167	Abnormal finger morphology	9896	FIG4	ORPHA:3472
HP:0001167	Abnormal finger morphology	55697	VAC14	ORPHA:3472
HP:0001167	Abnormal finger morphology	23400	ATP13A2	ORPHA:306674
HP:0001167	Abnormal finger morphology	64374	SIL1	ORPHA:559
HP:0001167	Abnormal finger morphology	91949	COG7	ORPHA:79333
HP:0001167	Abnormal finger morphology	5077	PAX3	ORPHA:896
HP:0001167	Abnormal finger morphology	134218	DNAJC21	ORPHA:811
HP:0001167	Abnormal finger morphology	79631	EFL1	ORPHA:811
HP:0001167	Abnormal finger morphology	51119	SBDS	ORPHA:811
HP:0001167	Abnormal finger morphology	6926	TBX3	ORPHA:3138
HP:0001167	Abnormal finger morphology	10262	SF3B4	OMIM:154400
HP:0001167	Abnormal finger morphology	2189	FANCG	OMIM:614082
HP:0001167	Abnormal finger morphology	2189	FANCG	ORPHA:84
HP:0001167	Abnormal finger morphology	80207	OPA3	ORPHA:67036
HP:0001167	Abnormal finger morphology	9158	FIBP	ORPHA:500095
HP:0001167	Abnormal finger morphology	9968	MED12	ORPHA:93932
HP:0001167	Abnormal finger morphology	8200	GDF5	ORPHA:2639
HP:0001167	Abnormal finger morphology	658	BMPR1B	ORPHA:2639
HP:0001167	Abnormal finger morphology	672	BRCA1	ORPHA:84
HP:0001167	Abnormal finger morphology	10459	MAD2L2	ORPHA:84
HP:0001167	Abnormal finger morphology	7516	XRCC2	ORPHA:84
HP:0001167	Abnormal finger morphology	29089	UBE2T	ORPHA:84
HP:0001167	Abnormal finger morphology	675	BRCA2	ORPHA:84
HP:0001167	Abnormal finger morphology	55120	FANCL	ORPHA:84
HP:0001167	Abnormal finger morphology	2177	FANCD2	ORPHA:84
HP:0001167	Abnormal finger morphology	2175	FANCA	ORPHA:84
HP:0001167	Abnormal finger morphology	2187	FANCB	ORPHA:84
HP:0001167	Abnormal finger morphology	2176	FANCC	ORPHA:84
HP:0001167	Abnormal finger morphology	2178	FANCE	ORPHA:84
HP:0001167	Abnormal finger morphology	2188	FANCF	ORPHA:84
HP:0001167	Abnormal finger morphology	5888	RAD51	ORPHA:84
HP:0001167	Abnormal finger morphology	5889	RAD51C	ORPHA:84
HP:0001167	Abnormal finger morphology	55159	RFWD3	ORPHA:84
HP:0001167	Abnormal finger morphology	83990	BRIP1	ORPHA:84
HP:0001167	Abnormal finger morphology	57697	FANCM	ORPHA:84
HP:0001167	Abnormal finger morphology	79728	PALB2	ORPHA:84
HP:0001167	Abnormal finger morphology	84464	SLX4	ORPHA:84
HP:0001167	Abnormal finger morphology	2072	ERCC4	ORPHA:84
HP:0001167	Abnormal finger morphology	55215	FANCI	ORPHA:84
HP:0001167	Abnormal finger morphology	64093	SMOC1	ORPHA:1106
HP:0001167	Abnormal finger morphology	2261	FGFR3	OMIM:620192
HP:0001167	Abnormal finger morphology	2261	FGFR3	ORPHA:2363
HP:0001167	Abnormal finger morphology	23111	SPART	ORPHA:101000
HP:0001167	Abnormal finger morphology	25942	SIN3A	ORPHA:94065
HP:0001167	Abnormal finger morphology	1193	CLIC2	ORPHA:324410
HP:0001167	Abnormal finger morphology	860	RUNX2	ORPHA:1452
HP:0001167	Abnormal finger morphology	57167	SALL4	ORPHA:959
HP:0001167	Abnormal finger morphology	2263	FGFR2	ORPHA:2363
HP:0001167	Abnormal finger morphology	2255	FGF10	ORPHA:2363
HP:0001167	Abnormal finger morphology	64327	LMBR1	ORPHA:93321
HP:0001167	Abnormal finger morphology	6469	SHH	ORPHA:93321
HP:0001167	Abnormal finger morphology	90	ACVR1	ORPHA:337
HP:0001167	Abnormal finger morphology	9935	MAFB	ORPHA:233
HP:0001167	Abnormal finger morphology	1123	CHN1	ORPHA:233
HP:0001167	Abnormal finger morphology	65250	CPLANE1	OMIM:277170
HP:0001167	Abnormal finger morphology	6608	SMO	OMIM:601707
HP:0001167	Abnormal finger morphology	6608	SMO	ORPHA:1553
HP:0001167	Abnormal finger morphology	4750	NEK1	OMIM:263520
HP:0001167	Abnormal finger morphology	4750	NEK1	OMIM:252100
HP:0001167	Abnormal finger morphology	2737	GLI3	OMIM:175700
HP:0001167	Abnormal finger morphology	2737	GLI3	ORPHA:380
HP:0001167	Abnormal finger morphology	2737	GLI3	OMIM:174200
HP:0001167	Abnormal finger morphology	2737	GLI3	OMIM:146510
HP:0001167	Abnormal finger morphology	55027	HEATR3	OMIM:620072
HP:0001167	Abnormal finger morphology	6299	SALL1	OMIM:107480
HP:0001167	Abnormal finger morphology	6299	SALL1	ORPHA:857
HP:0001167	Abnormal finger morphology	55112	DYNC2I1	ORPHA:93271
HP:0001167	Abnormal finger morphology	57560	IFT80	ORPHA:93271
HP:0001167	Abnormal finger morphology	57539	WDR35	ORPHA:93271
HP:0001167	Abnormal finger morphology	79659	DYNC2H1	ORPHA:93271
HP:0001167	Abnormal finger morphology	89891	DYNC2I2	ORPHA:93271
HP:0001167	Abnormal finger morphology	374879	ZNF699	OMIM:619488
HP:0001167	Abnormal finger morphology	8318	CDC45	OMIM:617063
HP:0001167	Abnormal finger morphology	5728	PTEN	ORPHA:210548
HP:0001167	Abnormal finger morphology	220296	HEPACAM	ORPHA:210548
HP:0001167	Abnormal finger morphology	51339	DACT1	ORPHA:857
HP:0001167	Abnormal finger morphology	57688	ZSWIM6	OMIM:603671
HP:0001167	Abnormal finger morphology	83871	RAB34	OMIM:620718
HP:0001167	Abnormal finger morphology	727857	BHLHA9	ORPHA:3329
HP:0001167	Abnormal finger morphology	23133	PHF8	ORPHA:85287
HP:0001167	Abnormal finger morphology	219844	HYLS1	OMIM:236680
HP:0001167	Abnormal finger morphology	26123	TCTN3	ORPHA:2753
HP:0001167	Abnormal finger morphology	26123	TCTN3	ORPHA:564
HP:0001167	Abnormal finger morphology	2697	GJA1	ORPHA:2710
HP:0001167	Abnormal finger morphology	3239	HOXD13	ORPHA:887
HP:0001167	Abnormal finger morphology	7020	TFAP2A	OMIM:113620
HP:0001167	Abnormal finger morphology	7020	TFAP2A	ORPHA:1297
HP:0001167	Abnormal finger morphology	84314	TMEM107	ORPHA:564
HP:0001167	Abnormal finger morphology	79867	TCTN2	ORPHA:564
HP:0001167	Abnormal finger morphology	80776	B9D2	ORPHA:564
HP:0001167	Abnormal finger morphology	79600	TCTN1	ORPHA:564
HP:0001167	Abnormal finger morphology	57096	RPGRIP1	ORPHA:564
HP:0001167	Abnormal finger morphology	79848	CSPP1	ORPHA:564
HP:0001167	Abnormal finger morphology	80184	CEP290	ORPHA:564
HP:0001167	Abnormal finger morphology	51259	TMEM216	ORPHA:564
HP:0001167	Abnormal finger morphology	57545	CC2D2A	ORPHA:564
HP:0001167	Abnormal finger morphology	79583	TMEM231	ORPHA:564
HP:0001167	Abnormal finger morphology	91147	TMEM67	ORPHA:564
HP:0001167	Abnormal finger morphology	79770	TXNDC15	ORPHA:564
HP:0001167	Abnormal finger morphology	27077	B9D1	ORPHA:564
HP:0001167	Abnormal finger morphology	23322	RPGRIP1L	ORPHA:564
HP:0001167	Abnormal finger morphology	54903	MKS1	ORPHA:564
HP:0001167	Abnormal finger morphology	65062	TMEM237	ORPHA:564
HP:0001167	Abnormal finger morphology	10815	CPLX1	ORPHA:280
HP:0001167	Abnormal finger morphology	10815	CPLX1	OMIM:194190
HP:0001167	Abnormal finger morphology	54872	PIGG	ORPHA:280
HP:0001167	Abnormal finger morphology	7469	NELFA	ORPHA:280
HP:0001167	Abnormal finger morphology	1487	CTBP1	ORPHA:280
HP:0001167	Abnormal finger morphology	1487	CTBP1	OMIM:194190
HP:0001167	Abnormal finger morphology	3954	LETM1	ORPHA:280
HP:0001167	Abnormal finger morphology	3954	LETM1	OMIM:194190
HP:0001167	Abnormal finger morphology	7468	NSD2	ORPHA:280
HP:0001167	Abnormal finger morphology	7468	NSD2	OMIM:194190
HP:0001167	Abnormal finger morphology	2735	GLI1	OMIM:174400
HP:0001167	Abnormal finger morphology	53834	FGFRL1	OMIM:194190
HP:0001167	Abnormal finger morphology	1802	DPH2	OMIM:620062
HP:0001167	Abnormal finger morphology	27238	GPKOW	ORPHA:2570
HP:0001167	Abnormal finger morphology	23141	ANKLE2	OMIM:616681
HP:0001167	Abnormal finger morphology	29895	MYL11	OMIM:619110
HP:0001167	Abnormal finger morphology	5393	EXOSC9	OMIM:618065
HP:0001167	Abnormal finger morphology	1861	TOR1A	OMIM:618947
HP:0001167	Abnormal finger morphology	55627	SMPD4	OMIM:618622
HP:0001167	Abnormal finger morphology	6804	STX1A	ORPHA:904
HP:0001167	Abnormal finger morphology	7461	CLIP2	ORPHA:904
HP:0001167	Abnormal finger morphology	84277	DNAJC30	ORPHA:904
HP:0001167	Abnormal finger morphology	8468	FKBP6	ORPHA:904
HP:0001167	Abnormal finger morphology	5982	RFC2	ORPHA:904
HP:0001167	Abnormal finger morphology	2969	GTF2I	ORPHA:904
HP:0001167	Abnormal finger morphology	3984	LIMK1	ORPHA:904
HP:0001167	Abnormal finger morphology	9569	GTF2IRD1	ORPHA:904
HP:0001167	Abnormal finger morphology	155382	VPS37D	ORPHA:904
HP:0001167	Abnormal finger morphology	155368	METTL27	ORPHA:904
HP:0001167	Abnormal finger morphology	114049	BUD23	ORPHA:904
HP:0001167	Abnormal finger morphology	7458	EIF4H	ORPHA:904
HP:0001167	Abnormal finger morphology	84163	GTF2IRD2	ORPHA:904
HP:0001167	Abnormal finger morphology	26608	TBL2	ORPHA:904
HP:0001167	Abnormal finger morphology	653361	NCF1	ORPHA:904
HP:0001167	Abnormal finger morphology	135886	TMEM270	ORPHA:904
HP:0001167	Abnormal finger morphology	9031	BAZ1B	ORPHA:904
HP:0001167	Abnormal finger morphology	2006	ELN	ORPHA:904
HP:0001167	Abnormal finger morphology	2006	ELN	ORPHA:90348
HP:0001167	Abnormal finger morphology	5832	ALDH18A1	OMIM:616603
HP:0001167	Abnormal finger morphology	5832	ALDH18A1	OMIM:219150
HP:0001167	Abnormal finger morphology	5832	ALDH18A1	ORPHA:90348
HP:0001167	Abnormal finger morphology	347734	SLC35B2	OMIM:620269
HP:0001167	Abnormal finger morphology	23345	SYNE1	ORPHA:319332
HP:0001167	Abnormal finger morphology	23345	SYNE1	OMIM:618484
HP:0001167	Abnormal finger morphology	84992	PIGY	OMIM:616809
HP:0001167	Abnormal finger morphology	9839	ZEB2	ORPHA:261537
HP:0001167	Abnormal finger morphology	9839	ZEB2	ORPHA:261552
HP:0001167	Abnormal finger morphology	91754	NEK9	OMIM:617022
HP:0001167	Abnormal finger morphology	5649	RELN	ORPHA:89844
HP:0001167	Abnormal finger morphology	10300	KATNB1	ORPHA:89844
HP:0001167	Abnormal finger morphology	54820	NDE1	ORPHA:89844
HP:0001167	Abnormal finger morphology	6472	SHMT2	OMIM:619121
HP:0001167	Abnormal finger morphology	58	ACTA1	ORPHA:171430
HP:0001167	Abnormal finger morphology	4703	NEB	ORPHA:171430
HP:0001167	Abnormal finger morphology	4703	NEB	OMIM:619334
HP:0001167	Abnormal finger morphology	131377	KLHL40	ORPHA:171430
HP:0001167	Abnormal finger morphology	10324	KLHL41	ORPHA:171430
HP:0001167	Abnormal finger morphology	56203	LMOD3	ORPHA:171430
HP:0001167	Abnormal finger morphology	84162	BLTP1	OMIM:617822
HP:0001167	Abnormal finger morphology	202018	TAPT1	OMIM:616897
HP:0001167	Abnormal finger morphology	2782	GNB1	OMIM:616973
HP:0001167	Abnormal finger morphology	2201	FBN2	OMIM:121050
HP:0001167	Abnormal finger morphology	7140	TNNT3	OMIM:618435
HP:0001167	Abnormal finger morphology	7140	TNNT3	ORPHA:1147
HP:0001167	Abnormal finger morphology	7140	TNNT3	ORPHA:1146
HP:0001167	Abnormal finger morphology	91869	RFT1	OMIM:612015
HP:0001167	Abnormal finger morphology	2033	EP300	ORPHA:353284
HP:0001167	Abnormal finger morphology	4621	MYH3	OMIM:618436
HP:0001167	Abnormal finger morphology	4621	MYH3	OMIM:193700
HP:0001167	Abnormal finger morphology	4621	MYH3	ORPHA:1147
HP:0001167	Abnormal finger morphology	4621	MYH3	ORPHA:1146
HP:0001167	Abnormal finger morphology	3897	L1CAM	ORPHA:306617
HP:0001167	Abnormal finger morphology	3897	L1CAM	OMIM:303350
HP:0001167	Abnormal finger morphology	3897	L1CAM	OMIM:307000
HP:0001167	Abnormal finger morphology	3897	L1CAM	ORPHA:2182
HP:0001167	Abnormal finger morphology	388015	RTL1	ORPHA:96334
HP:0001167	Abnormal finger morphology	8788	DLK1	ORPHA:96334
HP:0001167	Abnormal finger morphology	55384	MEG3	ORPHA:96334
HP:0001167	Abnormal finger morphology	2067	ERCC1	OMIM:610758
HP:0001167	Abnormal finger morphology	9179	AP4M1	OMIM:612936
HP:0001167	Abnormal finger morphology	7169	TPM2	OMIM:108120
HP:0001167	Abnormal finger morphology	7169	TPM2	ORPHA:1147
HP:0001167	Abnormal finger morphology	7169	TPM2	ORPHA:1146
HP:0001167	Abnormal finger morphology	50515	CHST11	OMIM:618167
HP:0001167	Abnormal finger morphology	79868	ALG13	ORPHA:324422
HP:0001167	Abnormal finger morphology	259232	NALCN	OMIM:616266
HP:0001167	Abnormal finger morphology	259232	NALCN	ORPHA:1147
HP:0001167	Abnormal finger morphology	259232	NALCN	ORPHA:1146
HP:0001167	Abnormal finger morphology	259232	NALCN	ORPHA:562528
HP:0001167	Abnormal finger morphology	23483	TGDS	OMIM:616145
HP:0001167	Abnormal finger morphology	729920	CRPPA	OMIM:614643
HP:0001167	Abnormal finger morphology	7136	TNNI2	ORPHA:1147
HP:0001167	Abnormal finger morphology	7136	TNNI2	ORPHA:1146
HP:0001167	Abnormal finger morphology	10273	STUB1	ORPHA:412057
HP:0001167	Abnormal finger morphology	1387	CREBBP	ORPHA:353277
HP:0001167	Abnormal finger morphology	4604	MYBPC1	ORPHA:1146
HP:0001167	Abnormal finger morphology	10516	FBLN5	ORPHA:90348
HP:0001167	Abnormal finger morphology	81857	MED25	ORPHA:464738
HP:0001167	Abnormal finger morphology	57211	ADGRG6	OMIM:616503
HP:0001167	Abnormal finger morphology	9939	RBM8A	ORPHA:3320
HP:0001167	Abnormal finger morphology	9939	RBM8A	OMIM:274000
HP:0001167	Abnormal finger morphology	3756	KCNH1	OMIM:611816
HP:0001167	Abnormal finger morphology	23299	BICD2	OMIM:618291
HP:0001167	Abnormal finger morphology	10943	MSL3	OMIM:301032
HP:0001167	Abnormal finger morphology	3977	LIFR	OMIM:601559
HP:0001167	Abnormal finger morphology	9427	ECEL1	OMIM:615065
HP:0001167	Abnormal finger morphology	6999	TDO2	OMIM:600627
HP:0001167	Abnormal finger morphology	84896	ATAD1	OMIM:618011
HP:0001167	Abnormal finger morphology	2036	EPB41L1	OMIM:614257
HP:0001167	Abnormal finger morphology	27145	FILIP1	OMIM:620775
HP:0001167	Abnormal finger morphology	79693	YRDC	ORPHA:2065
HP:0001167	Abnormal finger morphology	51002	TPRKB	ORPHA:2065
HP:0001167	Abnormal finger morphology	55644	OSGEP	ORPHA:2065
HP:0001167	Abnormal finger morphology	57122	NUP107	ORPHA:2065
HP:0001167	Abnormal finger morphology	10785	WDR4	ORPHA:2065
HP:0001167	Abnormal finger morphology	55746	NUP133	ORPHA:2065
HP:0001167	Abnormal finger morphology	84520	GON7	ORPHA:2065
HP:0001167	Abnormal finger morphology	112858	TP53RK	ORPHA:2065
HP:0001167	Abnormal finger morphology	8270	LAGE3	ORPHA:2065
HP:0001167	Abnormal finger morphology	9244	CRLF1	OMIM:272430
HP:0001167	Abnormal finger morphology	26834	RNU4-2	OMIM:620851
HP:0001167	Abnormal finger morphology	23019	CNOT1	OMIM:619033
HP:0001167	Abnormal finger morphology	26128	KIFBP	OMIM:609460
HP:0001167	Abnormal finger morphology	2972	BRF1	OMIM:616202
HP:0001167	Abnormal finger morphology	2972	BRF1	ORPHA:444072
HP:0001167	Abnormal finger morphology	56916	SMARCAD1	OMIM:129200
HP:0001167	Abnormal finger morphology	56916	SMARCAD1	OMIM:181600
HP:0001167	Abnormal finger morphology	3020	H3-3A	OMIM:619720
HP:0001167	Abnormal finger morphology	55904	KMT2E	OMIM:618512
HP:0001167	Abnormal finger morphology	24142	NAA80	OMIM:620830
HP:0001167	Abnormal finger morphology	10978	CLP1	OMIM:615803
HP:0001167	Abnormal finger morphology	55650	PIGV	OMIM:239300
HP:0001167	Abnormal finger morphology	9698	PUM1	OMIM:620719
HP:0001167	Abnormal finger morphology	9698	PUM1	OMIM:617931
HP:0001167	Abnormal finger morphology	1889	ECE1	OMIM:613870
HP:0001167	Abnormal finger morphology	9326	ZNHIT3	ORPHA:2836
HP:0001167	Abnormal finger morphology	9326	ZNHIT3	OMIM:260565
HP:0001167	Abnormal finger morphology	2770	GNAI1	OMIM:619854
HP:0001167	Abnormal finger morphology	83550	GPR101	ORPHA:963
HP:0001167	Abnormal finger morphology	9049	AIP	ORPHA:963
HP:0001167	Abnormal finger morphology	2626	GATA4	ORPHA:251071
HP:0001167	Abnormal finger morphology	1656	DDX6	OMIM:618653
HP:0001167	Abnormal finger morphology	4297	KMT2A	ORPHA:319182
HP:0001167	Abnormal finger morphology	4297	KMT2A	OMIM:605130
HP:0001167	Abnormal finger morphology	55699	IARS2	OMIM:616007
HP:0001167	Abnormal finger morphology	57282	SLC4A10	OMIM:620746
HP:0001167	Abnormal finger morphology	79753	SNIP1	OMIM:614501
HP:0001167	Abnormal finger morphology	51611	DPH5	OMIM:620070
HP:0001167	Abnormal finger morphology	79813	EHMT1	ORPHA:261652
HP:0001167	Abnormal finger morphology	58508	KMT2C	ORPHA:261652
HP:0001167	Abnormal finger morphology	4094	MAF	ORPHA:1272
HP:0001167	Abnormal finger morphology	4094	MAF	OMIM:601088
HP:0001167	Abnormal finger morphology	4849	CNOT3	OMIM:618672
HP:0001167	Abnormal finger morphology	6942	TCF20	OMIM:618430
HP:0001167	Abnormal finger morphology	81887	LAS1L	ORPHA:3459
HP:0001167	Abnormal finger morphology	81887	LAS1L	OMIM:309585
HP:0001167	Abnormal finger morphology	55869	HDAC8	ORPHA:3459
HP:0001167	Abnormal finger morphology	7030	TFE3	OMIM:301066
HP:0001167	Abnormal finger morphology	374969	SVBP	OMIM:618569
HP:0001167	Abnormal finger morphology	84295	PHF6	ORPHA:127
HP:0001167	Abnormal finger morphology	84295	PHF6	OMIM:301900
HP:0001167	Abnormal finger morphology	91252	SLC39A13	ORPHA:157965
HP:0001167	Abnormal finger morphology	91252	SLC39A13	OMIM:612350
HP:0001167	Abnormal finger morphology	171023	ASXL1	OMIM:605039
HP:0001167	Abnormal finger morphology	55023	PHIP	ORPHA:589905
HP:0001167	Abnormal finger morphology	55023	PHIP	OMIM:617991
HP:0001167	Abnormal finger morphology	9230	RAB11B	OMIM:617807
HP:0001167	Abnormal finger morphology	78987	CRELD1	OMIM:620771
HP:0001167	Abnormal finger morphology	10075	HUWE1	OMIM:309590
HP:0001167	Abnormal finger morphology	9488	PIGB	OMIM:618580
HP:0001167	Abnormal finger morphology	8243	SMC1A	OMIM:301044
HP:0001167	Abnormal finger morphology	23013	SPEN	OMIM:619312
HP:0001167	Abnormal finger morphology	56896	DPYSL5	OMIM:619435
HP:0001167	Abnormal finger morphology	84320	ACBD6	OMIM:620785
HP:0001167	Abnormal finger morphology	23028	KDM1A	OMIM:616728
HP:0001167	Abnormal finger morphology	23028	KDM1A	ORPHA:477993
HP:0001167	Abnormal finger morphology	5575	PRKAR1B	OMIM:619680
HP:0001167	Abnormal finger morphology	6492	SIM1	ORPHA:171829
HP:0001167	Abnormal finger morphology	4953	ODC1	ORPHA:544488
HP:0001167	Abnormal finger morphology	998	CDC42	OMIM:616737
HP:0001167	Abnormal finger morphology	998	CDC42	ORPHA:487796
HP:0001167	Abnormal finger morphology	3097	HIVEP2	OMIM:616977
HP:0001167	Abnormal finger morphology	56915	EXOSC5	OMIM:619576
HP:0001167	Abnormal finger morphology	10588	MTHFS	OMIM:618367
HP:0001167	Abnormal finger morphology	1108	CHD4	OMIM:617159
HP:0001167	Abnormal finger morphology	91137	SLC25A46	OMIM:616505
HP:0001167	Abnormal finger morphology	8604	SLC25A12	OMIM:612949
HP:0001167	Abnormal finger morphology	2707	GJB3	ORPHA:317
HP:0001167	Abnormal finger morphology	2531	KDSR	ORPHA:317
HP:0001167	Abnormal finger morphology	127534	GJB4	ORPHA:317
HP:0001167	Abnormal finger morphology	8812	CCNK	OMIM:618147
HP:0001167	Abnormal finger morphology	7204	TRIO	OMIM:618825
HP:0001167	Abnormal finger morphology	7204	TRIO	OMIM:617061
HP:0001167	Abnormal finger morphology	7204	TRIO	ORPHA:476126
HP:0001167	Abnormal finger morphology	9894	TELO2	ORPHA:488642
HP:0001167	Abnormal finger morphology	80036	TRPM3	OMIM:620224
HP:0001167	Abnormal finger morphology	8936	WASF1	OMIM:618707
HP:0001167	Abnormal finger morphology	8405	SPOP	OMIM:618829
HP:0001167	Abnormal finger morphology	23630	KCNE5	ORPHA:86818
HP:0001167	Abnormal finger morphology	2182	ACSL4	ORPHA:86818
HP:0001167	Abnormal finger morphology	9949	AMMECR1	ORPHA:86818
HP:0001167	Abnormal finger morphology	11198	SUPT16H	OMIM:619480
HP:0001167	Abnormal finger morphology	23067	SETD1B	OMIM:619000
HP:0001167	Abnormal finger morphology	23233	EXOC6B	OMIM:618395
HP:0001167	Abnormal finger morphology	5075	PAX1	OMIM:615560
HP:0001167	Abnormal finger morphology	55704	CCDC88A	OMIM:617507
HP:0001167	Abnormal finger morphology	8242	KDM5C	ORPHA:85279
HP:0001167	Abnormal finger morphology	1315	COPB1	OMIM:619255
HP:0001167	Abnormal finger morphology	51317	PHF21A	OMIM:618725
HP:0001167	Abnormal finger morphology	1968	EIF2S3	ORPHA:85282
HP:0001167	Abnormal finger morphology	5557	PRIM1	OMIM:620005
HP:0001167	Abnormal finger morphology	3636	INPPL1	ORPHA:2746
HP:0001167	Abnormal finger morphology	283450	HECTD4	OMIM:620250
HP:0001167	Abnormal finger morphology	9759	HDAC4	OMIM:619797
HP:0001167	Abnormal finger morphology	92344	GORAB	OMIM:231070
HP:0001167	Abnormal finger morphology	387733	IFITM5	OMIM:610967
HP:0001167	Abnormal finger morphology	23114	NFASC	OMIM:618356
HP:0001167	Abnormal finger morphology	7543	ZFX	OMIM:301118
HP:0001167	Abnormal finger morphology	121340	SP7	OMIM:613849
HP:0001167	Abnormal finger morphology	4488	MSX2	OMIM:604757
HP:0001167	Abnormal finger morphology	5745	PTH1R	ORPHA:79106
HP:0001167	Abnormal finger morphology	3909	LAMA3	ORPHA:79404
HP:0001167	Abnormal finger morphology	3918	LAMC2	ORPHA:79404
HP:0001167	Abnormal finger morphology	3914	LAMB3	ORPHA:79404
HP:0001167	Abnormal finger morphology	1105	CHD1	ORPHA:529965
HP:0001167	Abnormal finger morphology	10269	ZMPSTE24	ORPHA:90154
HP:0001167	Abnormal finger morphology	10664	CTCF	ORPHA:363611
HP:0001167	Abnormal finger morphology	10664	CTCF	OMIM:615502
HP:0001167	Abnormal finger morphology	54880	BCOR	OMIM:309800
HP:0001167	Abnormal finger morphology	5063	PAK3	OMIM:300558
HP:0001167	Abnormal finger morphology	6228	RPS23	OMIM:617412
HP:0001167	Abnormal finger morphology	55628	ZNF407	OMIM:619557
HP:0001167	Abnormal finger morphology	91461	PKDCC	OMIM:618821
HP:0001167	Abnormal finger morphology	11133	KPTN	OMIM:615637
HP:0001167	Abnormal finger morphology	253738	EBF3	ORPHA:96148
HP:0001167	Abnormal finger morphology	4076	CAPRIN1	OMIM:620782
HP:0001167	Abnormal finger morphology	93986	FOXP2	ORPHA:251061
HP:0001167	Abnormal finger morphology	55343	SLC35C1	OMIM:266265
HP:0001167	Abnormal finger morphology	79718	TBL1XR1	OMIM:602342
HP:0001167	Abnormal finger morphology	79718	TBL1XR1	ORPHA:487825
HP:0001167	Abnormal finger morphology	27086	FOXP1	ORPHA:391372
HP:0001167	Abnormal finger morphology	3021	H3-3B	OMIM:619721
HP:0001167	Abnormal finger morphology	28952	CCDC22	OMIM:300963
HP:0001167	Abnormal finger morphology	83479	DDX59	OMIM:174300
HP:0001167	Abnormal finger morphology	8085	KMT2D	ORPHA:2322
HP:0001167	Abnormal finger morphology	8085	KMT2D	OMIM:147920
HP:0001167	Abnormal finger morphology	7403	KDM6A	ORPHA:2322
HP:0001167	Abnormal finger morphology	7403	KDM6A	OMIM:300867
HP:0001167	Abnormal finger morphology	7403	KDM6A	OMIM:147920
HP:0001167	Abnormal finger morphology	7025	NR2F1	OMIM:615722
HP:0001167	Abnormal finger morphology	6925	TCF4	OMIM:610954
HP:0001167	Abnormal finger morphology	23065	EMC1	ORPHA:480898
HP:0001167	Abnormal finger morphology	23065	EMC1	OMIM:616875
HP:0001167	Abnormal finger morphology	4131	MAP1B	OMIM:618918
HP:0001167	Abnormal finger morphology	57492	ARID1B	OMIM:135900
HP:0001167	Abnormal finger morphology	57479	PRR12	OMIM:619539
HP:0001167	Abnormal finger morphology	64359	NXN	OMIM:618529
HP:0001167	Abnormal finger morphology	2146	EZH2	OMIM:277590
HP:0001167	Abnormal finger morphology	51322	WAC	ORPHA:466950
HP:0001167	Abnormal finger morphology	1822	ATN1	OMIM:618494
HP:0001167	Abnormal finger morphology	23036	ZNF292	OMIM:619188
HP:0001167	Abnormal finger morphology	3188	HNRNPH2	OMIM:300986
HP:0001167	Abnormal finger morphology	2703	GJA8	OMIM:612474
HP:0001167	Abnormal finger morphology	2702	GJA5	OMIM:612474
HP:0001167	Abnormal finger morphology	22907	DHX30	OMIM:617804
HP:0001167	Abnormal finger morphology	8216	LZTR1	OMIM:605275
HP:0001167	Abnormal finger morphology	10522	DEAF1	OMIM:615828
HP:0001167	Abnormal finger morphology	3720	JARID2	OMIM:620098
HP:0001167	Abnormal finger morphology	7317	UBA1	ORPHA:1145
HP:0001167	Abnormal finger morphology	3868	KRT16	ORPHA:2199
HP:0001167	Abnormal finger morphology	3857	KRT9	ORPHA:2199
HP:0001167	Abnormal finger morphology	3848	KRT1	ORPHA:2199
HP:0001167	Abnormal finger morphology	26229	B3GAT3	OMIM:245600
HP:0001167	Abnormal finger morphology	79796	ALG9	ORPHA:79328
HP:0001167	Abnormal finger morphology	54928	BPNT2	OMIM:614078
HP:0001167	Abnormal finger morphology	22858	CILK1	OMIM:612651
HP:0001167	Abnormal finger morphology	3835	KIF22	ORPHA:93360
HP:0001167	Abnormal finger morphology	4784	NFIX	OMIM:602535
HP:0001167	Abnormal finger morphology	83696	TRAPPC9	OMIM:613192
HP:0001167	Abnormal finger morphology	1281	COL3A1	OMIM:618343
HP:0001167	Abnormal finger morphology	23162	MAPK8IP3	OMIM:618443
HP:0001167	Abnormal finger morphology	113189	CHST14	ORPHA:2953
HP:0001167	Abnormal finger morphology	29940	DSE	ORPHA:2953
HP:0001167	Abnormal finger morphology	546	ATRX	OMIM:309580
HP:0001167	Abnormal finger morphology	2186	BPTF	OMIM:617755
HP:0001167	Abnormal finger morphology	23314	SATB2	ORPHA:251028
HP:0001167	Abnormal finger morphology	8239	USP9X	ORPHA:480880
HP:0001167	Abnormal finger morphology	10973	ASCC3	OMIM:620700
HP:0001167	Abnormal finger morphology	284058	KANSL1	OMIM:610443
HP:0001167	Abnormal finger morphology	84942	WDR73	OMIM:251300
HP:0001167	Abnormal finger morphology	1303	COL12A1	ORPHA:75840
HP:0001167	Abnormal finger morphology	1291	COL6A1	ORPHA:75840
HP:0001167	Abnormal finger morphology	1292	COL6A2	ORPHA:75840
HP:0001167	Abnormal finger morphology	1293	COL6A3	ORPHA:75840
HP:0001167	Abnormal finger morphology	3955	LFNG	OMIM:609813
HP:0001167	Abnormal finger morphology	10479	SLC9A6	OMIM:300243
HP:0001167	Abnormal finger morphology	9578	CDC42BPB	OMIM:619841
HP:0001167	Abnormal finger morphology	29998	BICRA	OMIM:619325
HP:0001167	Abnormal finger morphology	10525	HYOU1	OMIM:233600
HP:0001167	Abnormal finger morphology	55690	PACS1	ORPHA:329224
HP:0001167	Abnormal finger morphology	2783	GNB2	OMIM:619503
HP:0001167	Abnormal finger morphology	93587	TRMT10A	ORPHA:391408
HP:0001167	Abnormal finger morphology	84919	PPP1R15B	ORPHA:391408
HP:0001167	Abnormal finger morphology	4548	MTR	OMIM:250940
HP:0001167	Abnormal finger morphology	9343	EFTUD2	OMIM:610536
HP:0001167	Abnormal finger morphology	7175	TPR	OMIM:620393
HP:0001167	Abnormal finger morphology	4810	NHS	OMIM:302350
HP:0001167	Abnormal finger morphology	4882	NPR2	OMIM:602875
HP:0001167	Abnormal finger morphology	6197	RPS6KA3	ORPHA:192
HP:0001167	Abnormal finger morphology	1499	CTNNB1	OMIM:615075
HP:0001167	Abnormal finger morphology	23126	POGZ	OMIM:616364
HP:0001167	Abnormal finger morphology	80204	FBXO11	OMIM:618089
HP:0001167	Abnormal finger morphology	9181	ARHGEF2	OMIM:617523
HP:0001167	Abnormal finger morphology	93627	TBCK	ORPHA:488632
HP:0001167	Abnormal finger morphology	93627	TBCK	OMIM:616900
HP:0001167	Abnormal finger morphology	3248	HPGD	ORPHA:217059
HP:0001167	Abnormal finger morphology	5593	PRKG2	OMIM:619636
HP:0001167	Abnormal finger morphology	6792	CDKL5	ORPHA:1934
HP:0001167	Abnormal finger morphology	3736	KCNA1	ORPHA:1934
HP:0001167	Abnormal finger morphology	9091	PIGQ	ORPHA:1934
HP:0001167	Abnormal finger morphology	140679	SLC32A1	ORPHA:1934
HP:0001167	Abnormal finger morphology	2775	GNAO1	ORPHA:1934
HP:0001167	Abnormal finger morphology	81603	TRIM8	ORPHA:1934
HP:0001167	Abnormal finger morphology	2902	GRIN1	ORPHA:1934
HP:0001167	Abnormal finger morphology	79751	SLC25A22	ORPHA:1934
HP:0001167	Abnormal finger morphology	150094	SIK1	ORPHA:1934
HP:0001167	Abnormal finger morphology	8573	CASK	ORPHA:1934
HP:0001167	Abnormal finger morphology	23312	DMXL2	ORPHA:1934
HP:0001167	Abnormal finger morphology	2917	GRM7	ORPHA:1934
HP:0001167	Abnormal finger morphology	170302	ARX	ORPHA:1934
HP:0001167	Abnormal finger morphology	11284	PNKP	ORPHA:1934
HP:0001167	Abnormal finger morphology	6326	SCN2A	ORPHA:1934
HP:0001167	Abnormal finger morphology	51227	PIGP	ORPHA:1934
HP:0001167	Abnormal finger morphology	6324	SCN1B	ORPHA:1934
HP:0001167	Abnormal finger morphology	4761	NEUROD2	ORPHA:1934
HP:0001167	Abnormal finger morphology	1750	DLX6	ORPHA:2440
HP:0001167	Abnormal finger morphology	7979	SEM1	ORPHA:2440
HP:0001167	Abnormal finger morphology	8945	BTRC	ORPHA:2440
HP:0001167	Abnormal finger morphology	58513	EPS15L1	ORPHA:2440
HP:0001167	Abnormal finger morphology	6468	FBXW4	ORPHA:2440
HP:0001167	Abnormal finger morphology	2137	EXTL3	OMIM:617425
HP:0001167	Abnormal finger morphology	25871	NEPRO	OMIM:618853
HP:0001167	Abnormal finger morphology	8517	IKBKG	ORPHA:464
HP:0001167	Abnormal finger morphology	50964	SOST	OMIM:269500
HP:0001167	Abnormal finger morphology	51715	RAB23	OMIM:201000
HP:0001167	Abnormal finger morphology	63895	PIEZO2	ORPHA:1154
HP:0001167	Abnormal finger morphology	8481	OFD1	ORPHA:2750
HP:0001167	Abnormal finger morphology	11253	MAN1B1	ORPHA:397941
HP:0001167	Abnormal finger morphology	11253	MAN1B1	OMIM:614202
HP:0001167	Abnormal finger morphology	340533	NEXMIF	OMIM:300912
HP:0001167	Abnormal finger morphology	1139	CHRNA7	ORPHA:199318
HP:0001167	Abnormal finger morphology	1139	CHRNA7	OMIM:612001
HP:0001167	Abnormal finger morphology	2132	EXT2	OMIM:616682
HP:0001167	Abnormal finger morphology	23135	KDM6B	OMIM:618505
HP:0001167	Abnormal finger morphology	6659	SOX4	OMIM:618506
HP:0001167	Abnormal finger morphology	1947	EFNB1	ORPHA:1520
HP:0001167	Abnormal finger morphology	1947	EFNB1	OMIM:304110
HP:0001167	Abnormal finger morphology	4010	LMX1B	ORPHA:2614
HP:0001167	Abnormal finger morphology	4010	LMX1B	OMIM:161200
HP:0001167	Abnormal finger morphology	10054	UBA2	OMIM:619959
HP:0001167	Abnormal finger morphology	51126	NAA20	OMIM:619717
HP:0001167	Abnormal finger morphology	9820	CUL7	ORPHA:2616
HP:0001167	Abnormal finger morphology	9820	CUL7	OMIM:273750
HP:0001167	Abnormal finger morphology	23363	OBSL1	ORPHA:2616
HP:0001167	Abnormal finger morphology	83987	CCDC8	ORPHA:2616
HP:0001167	Abnormal finger morphology	83987	CCDC8	OMIM:614205
HP:0001167	Abnormal finger morphology	7021	TFAP2B	OMIM:169100
HP:0001167	Abnormal finger morphology	7021	TFAP2B	ORPHA:46627
HP:0001167	Abnormal finger morphology	7021	TFAP2B	OMIM:617035
HP:0001167	Abnormal finger morphology	5927	KDM5A	OMIM:620820
HP:0001167	Abnormal finger morphology	3481	IGF2	ORPHA:231140
HP:0001167	Abnormal finger morphology	3481	IGF2	ORPHA:231144
HP:0001167	Abnormal finger morphology	3481	IGF2	OMIM:616489
HP:0001167	Abnormal finger morphology	3481	IGF2	OMIM:180860
HP:0001167	Abnormal finger morphology	3481	IGF2	ORPHA:397590
HP:0001167	Abnormal finger morphology	283120	H19	ORPHA:231140
HP:0001167	Abnormal finger morphology	283120	H19	ORPHA:231144
HP:0001167	Abnormal finger morphology	197131	UBR1	OMIM:243800
HP:0001167	Abnormal finger morphology	5932	RBBP8	OMIM:606744
HP:0001167	Abnormal finger morphology	5932	RBBP8	ORPHA:808
HP:0001167	Abnormal finger morphology	4286	MITF	OMIM:617306
HP:0001167	Abnormal finger morphology	23384	SPECC1L	ORPHA:1519
HP:0001167	Abnormal finger morphology	112752	IFT43	ORPHA:1515
HP:0001167	Abnormal finger morphology	9723	SEMA3E	ORPHA:138
HP:0001167	Abnormal finger morphology	3190	HNRNPK	OMIM:616580
HP:0001167	Abnormal finger morphology	25885	POLR1A	OMIM:616462
HP:0001167	Abnormal finger morphology	10606	PAICS	OMIM:619859
HP:0001167	Abnormal finger morphology	1009	CDH11	OMIM:619736
HP:0001167	Abnormal finger morphology	23327	NEDD4L	OMIM:617201
HP:0001167	Abnormal finger morphology	85301	COL27A1	OMIM:615155
HP:0001167	Abnormal finger morphology	57680	CHD8	OMIM:615032
HP:0001167	Abnormal finger morphology	5048	PAFAH1B1	ORPHA:217385
HP:0001167	Abnormal finger morphology	5048	PAFAH1B1	ORPHA:531
HP:0001167	Abnormal finger morphology	7531	YWHAE	ORPHA:217385
HP:0001167	Abnormal finger morphology	7531	YWHAE	ORPHA:531
HP:0001167	Abnormal finger morphology	2550	GABBR1	OMIM:620502
HP:0001167	Abnormal finger morphology	8364	H4C3	OMIM:619758
HP:0001167	Abnormal finger morphology	5590	PRKCZ	ORPHA:1606
HP:0001167	Abnormal finger morphology	2563	GABRD	ORPHA:1606
HP:0001167	Abnormal finger morphology	8510	MMP23B	ORPHA:1606
HP:0001167	Abnormal finger morphology	7798	LUZP1	ORPHA:1606
HP:0001167	Abnormal finger morphology	10630	PDPN	ORPHA:1606
HP:0001167	Abnormal finger morphology	10277	UBE4B	ORPHA:1606
HP:0001167	Abnormal finger morphology	8514	KCNAB2	ORPHA:1606
HP:0001167	Abnormal finger morphology	63976	PRDM16	ORPHA:1606
HP:0001167	Abnormal finger morphology	54897	CASZ1	ORPHA:1606
HP:0001167	Abnormal finger morphology	641	BLM	OMIM:210900
HP:0001167	Abnormal finger morphology	10533	ATG7	OMIM:619422
HP:0001167	Abnormal finger morphology	8295	TRRAP	OMIM:618454
HP:0001167	Abnormal finger morphology	3479	IGF1	ORPHA:73272
HP:0001167	Abnormal finger morphology	3479	IGF1	OMIM:608747
HP:0001167	Abnormal finger morphology	8473	OGT	OMIM:300997
HP:0001167	Abnormal finger morphology	170689	ADAMTS15	OMIM:620545
HP:0001167	Abnormal finger morphology	117581	TWIST2	OMIM:200110
HP:0001167	Abnormal finger morphology	117581	TWIST2	OMIM:209885
HP:0001167	Abnormal finger morphology	23030	KDM4B	OMIM:619320
HP:0001167	Abnormal finger morphology	1725	DHPS	OMIM:618480
HP:0001167	Abnormal finger morphology	55777	MBD5	OMIM:156200
HP:0001167	Abnormal finger morphology	55777	MBD5	ORPHA:228402
HP:0001167	Abnormal finger morphology	4998	ORC1	OMIM:224690
HP:0001167	Abnormal finger morphology	4998	ORC1	ORPHA:2554
HP:0001167	Abnormal finger morphology	4052	LTBP1	OMIM:619451
HP:0001167	Abnormal finger morphology	8091	HMGA2	ORPHA:94063
HP:0001167	Abnormal finger morphology	8091	HMGA2	ORPHA:397590
HP:0001167	Abnormal finger morphology	23592	LEMD3	ORPHA:94063
HP:0001167	Abnormal finger morphology	5283	PIGH	OMIM:618010
HP:0001167	Abnormal finger morphology	6874	TAF4	OMIM:620450
HP:0001167	Abnormal finger morphology	50801	KCNK4	OMIM:618381
HP:0001167	Abnormal finger morphology	57003	CCDC47	OMIM:618268
HP:0001167	Abnormal finger morphology	5977	DPF2	OMIM:618027
HP:0001167	Abnormal finger morphology	94005	PIGS	OMIM:618143
HP:0001167	Abnormal finger morphology	92002	CCNQ	OMIM:300707
HP:0001167	Abnormal finger morphology	92002	CCNQ	ORPHA:140952
HP:0001167	Abnormal finger morphology	285590	SH3PXD2B	ORPHA:137834
HP:0001167	Abnormal finger morphology	2887	GRB10	ORPHA:96182
HP:0001167	Abnormal finger morphology	1457	CSNK2A1	OMIM:617062
HP:0001167	Abnormal finger morphology	90416	CCDC32	OMIM:619123
HP:0001167	Abnormal finger morphology	8450	CUL4B	ORPHA:85293
HP:0001167	Abnormal finger morphology	55717	WDR11	OMIM:620237
HP:0001167	Abnormal finger morphology	22995	CEP152	OMIM:613823
HP:0001167	Abnormal finger morphology	22995	CEP152	ORPHA:808
HP:0001167	Abnormal finger morphology	3090	HIC1	ORPHA:531
HP:0001167	Abnormal finger morphology	10436	EMG1	OMIM:211180
HP:0001167	Abnormal finger morphology	10436	EMG1	ORPHA:1270
HP:0001167	Abnormal finger morphology	23387	SIK3	OMIM:618162
HP:0001167	Abnormal finger morphology	89970	RSPRY1	ORPHA:457395
HP:0001167	Abnormal finger morphology	6016	RIT1	ORPHA:648
HP:0001167	Abnormal finger morphology	6237	RRAS	ORPHA:648
HP:0001167	Abnormal finger morphology	5894	RAF1	ORPHA:648
HP:0001167	Abnormal finger morphology	22808	MRAS	ORPHA:648
HP:0001167	Abnormal finger morphology	200734	SPRED2	ORPHA:648
HP:0001167	Abnormal finger morphology	6654	SOS1	ORPHA:648
HP:0001167	Abnormal finger morphology	6655	SOS2	ORPHA:648
HP:0001167	Abnormal finger morphology	5922	RASA2	ORPHA:648
HP:0001167	Abnormal finger morphology	6913	TBX15	OMIM:260660
HP:0001167	Abnormal finger morphology	79023	NUP37	OMIM:618179
HP:0001167	Abnormal finger morphology	375056	MIA3	OMIM:619269
HP:0001167	Abnormal finger morphology	27161	AGO2	OMIM:619149
HP:0001167	Abnormal finger morphology	221927	BRAT1	OMIM:618056
HP:0001167	Abnormal finger morphology	8823	FGF16	OMIM:309630
HP:0001167	Abnormal finger morphology	161742	SPRED1	ORPHA:137605
HP:0001167	Abnormal finger morphology	7337	UBE3A	ORPHA:238446
HP:0001167	Abnormal finger morphology	3728	JUP	ORPHA:158687
HP:0001167	Abnormal finger morphology	23241	PACS2	OMIM:618067
HP:0001167	Abnormal finger morphology	7518	XRCC4	ORPHA:99812
HP:0001167	Abnormal finger morphology	8854	ALDH1A2	OMIM:620025
HP:0001167	Abnormal finger morphology	10274	STAG1	ORPHA:502434
HP:0001167	Abnormal finger morphology	2314	FLII	ORPHA:819
HP:0001167	Abnormal finger morphology	23096	IQSEC2	ORPHA:819
HP:0001167	Abnormal finger morphology	10743	RAI1	ORPHA:819
HP:0001167	Abnormal finger morphology	10743	RAI1	OMIM:182290
HP:0001167	Abnormal finger morphology	9184	BUB3	ORPHA:1052
HP:0001167	Abnormal finger morphology	699	BUB1	ORPHA:1052
HP:0001167	Abnormal finger morphology	699	BUB1	OMIM:620183
HP:0001167	Abnormal finger morphology	9702	CEP57	ORPHA:1052
HP:0001167	Abnormal finger morphology	9702	CEP57	OMIM:614114
HP:0001167	Abnormal finger morphology	9319	TRIP13	ORPHA:1052
HP:0001167	Abnormal finger morphology	701	BUB1B	ORPHA:1052
HP:0001167	Abnormal finger morphology	54476	RNF216	ORPHA:1173
HP:0001167	Abnormal finger morphology	10908	PNPLA6	ORPHA:1173
HP:0001167	Abnormal finger morphology	51199	NIN	OMIM:614851
HP:0001167	Abnormal finger morphology	51199	NIN	ORPHA:319675
HP:0001167	Abnormal finger morphology	2535	FZD2	ORPHA:3107
HP:0001167	Abnormal finger morphology	2535	FZD2	OMIM:164745
HP:0001167	Abnormal finger morphology	3207	HOXA11	ORPHA:71289
HP:0001167	Abnormal finger morphology	3207	HOXA11	OMIM:605432
HP:0001167	Abnormal finger morphology	55165	CEP55	OMIM:236500
HP:0001167	Abnormal finger morphology	6628	SNRPB	ORPHA:1393
HP:0001167	Abnormal finger morphology	6628	SNRPB	OMIM:117650
HP:0001167	Abnormal finger morphology	1028	CDKN1C	ORPHA:397590
HP:0001167	Abnormal finger morphology	5324	PLAG1	ORPHA:397590
HP:0001167	Abnormal finger morphology	5422	POLA1	ORPHA:163976
HP:0001167	Abnormal finger morphology	5422	POLA1	OMIM:301030
HP:0001167	Abnormal finger morphology	51085	MLXIPL	OMIM:194050
HP:0001167	Abnormal finger morphology	10430	TMEM147	OMIM:620075
HP:0001167	Abnormal finger morphology	1482	NKX2-5	OMIM:187500
HP:0001167	Abnormal finger morphology	1482	NKX2-5	ORPHA:3303
HP:0001167	Abnormal finger morphology	23414	ZFPM2	OMIM:187500
HP:0001167	Abnormal finger morphology	23414	ZFPM2	ORPHA:3303
HP:0001167	Abnormal finger morphology	2627	GATA6	OMIM:187500
HP:0001167	Abnormal finger morphology	2627	GATA6	ORPHA:3303
HP:0001167	Abnormal finger morphology	1062	CENPE	ORPHA:808
HP:0001167	Abnormal finger morphology	5116	PCNT	ORPHA:808
HP:0001167	Abnormal finger morphology	5116	PCNT	OMIM:210720
HP:0001167	Abnormal finger morphology	5116	PCNT	ORPHA:2637
HP:0001167	Abnormal finger morphology	79902	NUP85	ORPHA:808
HP:0001167	Abnormal finger morphology	84126	ATRIP	ORPHA:808
HP:0001167	Abnormal finger morphology	10293	TRAIP	ORPHA:808
HP:0001167	Abnormal finger morphology	1763	DNA2	ORPHA:808
HP:0001167	Abnormal finger morphology	10733	PLK4	ORPHA:808
HP:0001167	Abnormal finger morphology	4208	MEF2C	OMIM:613443
HP:0001167	Abnormal finger morphology	129880	BBS5	OMIM:615983
HP:0001167	Abnormal finger morphology	84181	CHD6	ORPHA:2108
HP:0001167	Abnormal finger morphology	51621	KLF13	OMIM:612001
HP:0001167	Abnormal finger morphology	5648	MASP1	OMIM:257920
HP:0001167	Abnormal finger morphology	85358	SHANK3	OMIM:606232
HP:0001167	Abnormal finger morphology	137814	NKX2-6	ORPHA:3303
HP:0001167	Abnormal finger morphology	3791	KDR	ORPHA:3303
HP:0001167	Abnormal finger morphology	2657	GDF1	ORPHA:3303
HP:0001167	Abnormal finger morphology	140628	GATA5	ORPHA:3303
HP:0001167	Abnormal finger morphology	2324	FLT4	ORPHA:3303
HP:0001167	Abnormal finger morphology	10370	CITED2	ORPHA:3303
HP:0001167	Abnormal finger morphology	2334	AFF2	ORPHA:100973
HP:0001167	Abnormal finger morphology	54808	DYM	OMIM:223800
HP:0001167	Abnormal finger morphology	84679	SLC9A7	OMIM:301024
HP:0001167	Abnormal finger morphology	10735	STAG2	OMIM:301022
HP:0001167	Abnormal finger morphology	7874	USP7	OMIM:616863
HP:0001167	Abnormal finger morphology	81620	CDT1	ORPHA:2554
HP:0001167	Abnormal finger morphology	5000	ORC4	ORPHA:2554
HP:0001167	Abnormal finger morphology	23594	ORC6	ORPHA:2554
HP:0001167	Abnormal finger morphology	990	CDC6	ORPHA:2554
HP:0001167	Abnormal finger morphology	51053	GMNN	ORPHA:2554
HP:0001167	Abnormal finger morphology	6638	SNRPN	ORPHA:177907
HP:0001167	Abnormal finger morphology	22931	RAB18	OMIM:614222
HP:0001167	Abnormal finger morphology	54870	QRICH1	OMIM:617982
HP:0001167	Abnormal finger morphology	4841	NONO	ORPHA:466791
HP:0001167	Abnormal finger morphology	1663	DDX11	OMIM:613398
HP:0001167	Abnormal finger morphology	4848	CNOT2	OMIM:618608
HP:0001167	Abnormal finger morphology	4204	MECP2	OMIM:300260
HP:0001167	Abnormal finger morphology	84148	KAT8	OMIM:618974
HP:0001167	Abnormal finger morphology	8838	CCN6	ORPHA:1159
HP:0001167	Abnormal finger morphology	4148	MATN3	ORPHA:93311
HP:0001167	Abnormal finger morphology	23219	FBXO28	OMIM:619777
HP:0001167	Abnormal finger morphology	84265	POLR3GL	OMIM:619234
HP:0001167	Abnormal finger morphology	10297	APC2	ORPHA:821
HP:0001167	Abnormal finger morphology	92482	BBIP1	ORPHA:110
HP:0001167	Abnormal finger morphology	11020	IFT27	ORPHA:110
HP:0001167	Abnormal finger morphology	49855	SCAPER	ORPHA:110
HP:0001167	Abnormal finger morphology	132320	SCLT1	ORPHA:110
HP:0001167	Abnormal finger morphology	84984	CEP19	ORPHA:110
HP:0001167	Abnormal finger morphology	22954	TRIM32	ORPHA:110
HP:0001167	Abnormal finger morphology	79738	BBS10	ORPHA:110
HP:0001167	Abnormal finger morphology	123016	TTC8	ORPHA:110
HP:0001167	Abnormal finger morphology	585	BBS4	ORPHA:110
HP:0001167	Abnormal finger morphology	55212	BBS7	ORPHA:110
HP:0001167	Abnormal finger morphology	10806	SDCCAG8	ORPHA:110
HP:0001167	Abnormal finger morphology	1147	CHUK	OMIM:619339
HP:0001167	Abnormal finger morphology	57572	DOCK6	OMIM:614219
HP:0001167	Abnormal finger morphology	55081	IFT57	OMIM:617927
HP:0001167	Abnormal finger morphology	825	CAPN3	ORPHA:267
HP:0001167	Abnormal finger morphology	113179	ADAT3	ORPHA:363528
HP:0001167	Abnormal finger morphology	51305	KCNK9	ORPHA:166108
HP:0001167	Abnormal finger morphology	6329	SCN4A	OMIM:620351
HP:0001167	Abnormal finger morphology	54332	GDAP1	ORPHA:99948
HP:0001167	Abnormal finger morphology	4233	MET	OMIM:620019
HP:0001167	Abnormal finger morphology	7528	YY1	ORPHA:506358
HP:0001167	Abnormal finger morphology	7528	YY1	OMIM:617557
HP:0001167	Abnormal finger morphology	54681	P4HTM	OMIM:618493
HP:0001167	Abnormal finger morphology	54681	P4HTM	ORPHA:436141
HP:0001167	Abnormal finger morphology	128674	PROKR2	OMIM:244200
HP:0001167	Abnormal finger morphology	55790	CSGALNACT1	OMIM:618870
HP:0001167	Abnormal finger morphology	22861	NLRP1	OMIM:615225
HP:0001167	Abnormal finger morphology	867	CBL	OMIM:613563
HP:0001167	Abnormal finger morphology	1311	COMP	ORPHA:93308
HP:0001167	Abnormal finger morphology	126792	B3GALT6	OMIM:615349
HP:0001167	Abnormal finger morphology	126792	B3GALT6	OMIM:271640
HP:0001167	Abnormal finger morphology	25782	RAB3GAP2	OMIM:212720
HP:0001167	Abnormal finger morphology	11342	RNF13	ORPHA:544503
HP:0001167	Abnormal finger morphology	90459	ERI1	OMIM:620663
HP:0001167	Abnormal finger morphology	5479	PPIB	OMIM:259440
HP:0001167	Abnormal finger morphology	1277	COL1A1	OMIM:166200
HP:0001167	Abnormal finger morphology	90952	ESAM	OMIM:620371
HP:0001167	Abnormal finger morphology	3373	HYAL1	OMIM:601492
HP:0001167	Abnormal finger morphology	84720	PIGO	ORPHA:247262
HP:0001167	Abnormal finger morphology	84720	PIGO	OMIM:614749
HP:0001167	Abnormal finger morphology	93210	PGAP3	ORPHA:247262
HP:0001167	Abnormal finger morphology	93210	PGAP3	OMIM:615716
HP:0001167	Abnormal finger morphology	284098	PIGW	ORPHA:247262
HP:0001167	Abnormal finger morphology	27315	PGAP2	ORPHA:247262
HP:0001167	Abnormal finger morphology	27315	PGAP2	OMIM:614207
HP:0001167	Abnormal finger morphology	29929	ALG6	ORPHA:79320
HP:0001167	Abnormal finger morphology	3376	IARS1	ORPHA:541423
HP:0001167	Abnormal finger morphology	79068	FTO	OMIM:612938
HP:0001167	Abnormal finger morphology	545	ATR	OMIM:210600
HP:0001167	Abnormal finger morphology	7476	WNT7A	OMIM:228930
HP:0001167	Abnormal finger morphology	5830	PEX5	OMIM:616716
HP:0001167	Abnormal finger morphology	3586	IL10	OMIM:180300
HP:0001167	Abnormal finger morphology	6583	SLC22A4	OMIM:180300
HP:0001167	Abnormal finger morphology	26191	PTPN22	OMIM:180300
HP:0001167	Abnormal finger morphology	4261	CIITA	OMIM:180300
HP:0001167	Abnormal finger morphology	51744	CD244	OMIM:180300
HP:0001167	Abnormal finger morphology	4795	NFKBIL1	OMIM:180300
HP:0001167	Abnormal finger morphology	56098	PCDHGC4	OMIM:619880
HP:0001167	Abnormal finger morphology	26278	SACS	OMIM:270550
HP:0001167	Abnormal finger morphology	64324	NSD1	OMIM:117550
HP:0001167	Abnormal finger morphology	3549	IHH	OMIM:112500
HP:0001167	Abnormal finger morphology	23556	PIGN	ORPHA:280633
HP:0001167	Abnormal finger morphology	7994	KAT6A	OMIM:616268
HP:0001167	Abnormal finger morphology	7466	WFS1	OMIM:222300
HP:0001167	Abnormal finger morphology	54829	ASPN	OMIM:607850
HP:0001167	Abnormal finger morphology	1302	COL11A2	OMIM:215150
HP:0001167	Abnormal finger morphology	1289	COL5A1	ORPHA:287
HP:0001167	Abnormal finger morphology	1290	COL5A2	ORPHA:287
HP:0001167	Abnormal finger morphology	124583	CANT1	OMIM:251450
HP:0001167	Abnormal finger morphology	83452	RAB33B	OMIM:615222
HP:0001167	Abnormal finger morphology	9469	CHST3	OMIM:143095
HP:0001167	Abnormal finger morphology	5518	PPP2R1A	OMIM:616362
HP:0001167	Abnormal finger morphology	55315	SLC29A3	OMIM:602782
HP:0001167	Abnormal finger morphology	26053	AUTS2	ORPHA:352490
HP:0001167	Abnormal finger morphology	219854	TMEM218	OMIM:619562
HP:0001167	Abnormal finger morphology	79912	PYROXD1	OMIM:617258
HP:0001167	Abnormal finger morphology	9757	KMT2B	OMIM:619934
HP:0001167	Abnormal finger morphology	10093	ARPC4	OMIM:620141
HP:0001167	Abnormal finger morphology	6597	SMARCA4	ORPHA:1465
HP:0001167	Abnormal finger morphology	6597	SMARCA4	OMIM:614609
HP:0001167	Abnormal finger morphology	6598	SMARCB1	ORPHA:1465
HP:0001167	Abnormal finger morphology	8289	ARID1A	ORPHA:1465
HP:0001167	Abnormal finger morphology	6601	SMARCC2	ORPHA:1465
HP:0001167	Abnormal finger morphology	6602	SMARCD1	ORPHA:1465
HP:0001167	Abnormal finger morphology	196528	ARID2	ORPHA:1465
HP:0001167	Abnormal finger morphology	6664	SOX11	ORPHA:1465
HP:0001167	Abnormal finger morphology	5879	RAC1	ORPHA:500159
HP:0001167	Abnormal finger morphology	5286	PIK3C2A	ORPHA:557003
HP:0001167	Abnormal finger morphology	1327	COX4I1	OMIM:619060
HP:0001167	Abnormal finger morphology	23291	FBXW11	OMIM:618914
HP:0001167	Abnormal finger morphology	10765	KDM5B	OMIM:618109
HP:0001167	Abnormal finger morphology	11011	TLK2	OMIM:618050
HP:0001167	Abnormal finger morphology	7480	WNT10B	OMIM:225300
HP:0001167	Abnormal finger morphology	25836	NIPBL	OMIM:122470
HP:0001167	Abnormal finger morphology	55605	KIF21A	ORPHA:45358
HP:0001167	Abnormal finger morphology	347733	TUBB2B	ORPHA:45358
HP:0001167	Abnormal finger morphology	7846	TUBA1A	ORPHA:45358
HP:0001167	Abnormal finger morphology	401	PHOX2A	ORPHA:45358
HP:0001167	Abnormal finger morphology	10381	TUBB3	ORPHA:45358
HP:0001167	Abnormal finger morphology	84570	COL25A1	ORPHA:45358
HP:0001167	Abnormal finger morphology	6154	RPL26	OMIM:614900
HP:0001167	Abnormal finger morphology	1749	DLX5	OMIM:183600
HP:0001167	Abnormal finger morphology	59344	ALOXE3	OMIM:242100
HP:0001167	Abnormal finger morphology	242	ALOX12B	OMIM:242100
HP:0001167	Abnormal finger morphology	8820	HESX1	OMIM:182230
HP:0001167	Abnormal finger morphology	8820	HESX1	ORPHA:226307
HP:0001167	Abnormal finger morphology	26154	ABCA12	OMIM:242500
HP:0001167	Abnormal finger morphology	7840	ALMS1	ORPHA:64
HP:0001167	Abnormal finger morphology	9131	AIFM1	OMIM:300232
HP:0001167	Abnormal finger morphology	6134	RPL10	OMIM:300998
HP:0001167	Abnormal finger morphology	6134	RPL10	ORPHA:459070
HP:0001167	Abnormal finger morphology	5626	PROP1	ORPHA:226307
HP:0001167	Abnormal finger morphology	89884	LHX4	ORPHA:226307
HP:0001167	Abnormal finger morphology	8022	LHX3	ORPHA:226307
HP:0001167	Abnormal finger morphology	5449	POU1F1	ORPHA:226307
HP:0001167	Abnormal finger morphology	4038	LRP4	OMIM:614305
HP:0001167	Abnormal finger morphology	7750	ZMYM2	OMIM:619522
HP:0001167	Abnormal finger morphology	176	ACAN	OMIM:612813
HP:0001167	Abnormal finger morphology	6263	RYR3	OMIM:620310
HP:0001167	Abnormal finger morphology	5498	PPOX	OMIM:620483
HP:0001167	Abnormal finger morphology	2317	FLNB	OMIM:108720
HP:0001167	Abnormal finger morphology	1513	CTSK	ORPHA:763
HP:0001167	Abnormal finger morphology	84823	LMNB2	OMIM:619180
HP:0001167	Abnormal finger morphology	164	AP1G1	OMIM:619467
HP:0001167	Abnormal finger morphology	5277	PIGA	OMIM:300868
HP:0001167	Abnormal finger morphology	1134	CHRNA1	OMIM:253290
HP:0001167	Abnormal finger morphology	1144	CHRND	OMIM:253290
HP:0001167	Abnormal finger morphology	7227	TRPS1	OMIM:190351
HP:0001167	Abnormal finger morphology	5130	PCYT1A	OMIM:608940
HP:0001167	Abnormal finger morphology	2778	GNAS	OMIM:103580
HP:0001167	Abnormal finger morphology	2879	GPX4	OMIM:250220
HP:0001167	Abnormal finger morphology	2019	EN1	OMIM:619218
HP:0001167	Abnormal finger morphology	84231	TRAF7	OMIM:618164
HP:0001167	Abnormal finger morphology	22930	RAB3GAP1	ORPHA:1387
HP:0001167	Abnormal finger morphology	1836	SLC26A2	ORPHA:628
HP:0001167	Abnormal finger morphology	1836	SLC26A2	OMIM:222600
HP:0001167	Abnormal finger morphology	6473	SHOX	ORPHA:2632
HP:0001167	Abnormal finger morphology	50945	TBX22	ORPHA:921
HP:0001167	Abnormal finger morphology	1717	DHCR7	ORPHA:818
HP:0001167	Abnormal finger morphology	10225	CD96	OMIM:211750
HP:0001167	Abnormal finger morphology	9382	COG1	OMIM:611209
HP:0001167	Abnormal finger morphology	389827	MYMK	ORPHA:1358
HP:0001167	Abnormal finger morphology	101929726	MYMX	ORPHA:1358
HP:0001167	Abnormal finger morphology	59341	TRPV4	OMIM:606835
HP:0001167	Abnormal finger morphology	59341	TRPV4	OMIM:113500
HP:0001167	Abnormal finger morphology	4920	ROR2	OMIM:268310
HP:0001167	Abnormal finger morphology	5295	PIK3R1	OMIM:269880
HP:0001167	Abnormal finger morphology	2245	FGD1	OMIM:305400
HP:0001167	Abnormal finger morphology	9241	NOG	OMIM:186570
HP:0001167	Abnormal finger morphology	9241	NOG	OMIM:186500
HP:0001167	Abnormal finger morphology	22856	CHSY1	ORPHA:363417
HP:0001167	Abnormal finger morphology	84100	ARL6	OMIM:209900
HP:0001167	Abnormal finger morphology	79140	CCDC28B	OMIM:209900
HP:0001167	Abnormal finger morphology	582	BBS1	OMIM:209900
HP:0001167	Abnormal finger morphology	100033413	SNORD116-1	OMIM:176270
HP:0001167	Abnormal finger morphology	8924	HERC2	OMIM:176270
HP:0001167	Abnormal finger morphology	23742	NPAP1	OMIM:176270
HP:0001167	Abnormal finger morphology	338433	SNORD115-1	OMIM:176270
HP:0001167	Abnormal finger morphology	54551	MAGEL2	OMIM:176270
HP:0001167	Abnormal finger morphology	7681	MKRN3	OMIM:176270
HP:0001167	Abnormal finger morphology	145624	PWAR1	OMIM:176270
HP:0001167	Abnormal finger morphology	3653	IPW	OMIM:176270
HP:0001167	Abnormal finger morphology	791114	PWRN1	OMIM:176270
HP:0001167	Abnormal finger morphology	55764	IFT122	OMIM:218330
HP:0001167	Abnormal finger morphology	7474	WNT5A	OMIM:180700
HP:0001167	Abnormal finger morphology	1855	DVL1	OMIM:180700
HP:0001167	Abnormal finger morphology	257	ALX3	OMIM:136760
HP:0001167	Abnormal finger morphology	65267	WNK3	OMIM:309610
HP:0001167	Abnormal finger morphology	29123	ANKRD11	OMIM:148050
HP:0001167	Abnormal finger morphology	3480	IGF1R	OMIM:270450
HP:0001167	Abnormal finger morphology	673	BRAF	OMIM:163950
HP:0001167	Abnormal finger morphology	5604	MAP2K1	OMIM:163950
HP:0001167	Abnormal finger morphology	5781	PTPN11	OMIM:163950
HP:0001167	Abnormal finger morphology	6909	TBX2	OMIM:618223
HP:0001167	Abnormal finger morphology	652	BMP4	OMIM:607932
HP:0001167	Abnormal finger morphology	3981	LIG4	ORPHA:235
HP:0001167	Abnormal finger morphology	54888	NSUN2	ORPHA:235
HP:0001167	Abnormal finger morphology	5980	REV3L	ORPHA:570
HP:0001167	Abnormal finger morphology	23129	PLXND1	ORPHA:570
HP:0001167	Abnormal finger morphology	9401	RECQL4	ORPHA:1225
HP:0001167	Abnormal finger morphology	5925	RB1	ORPHA:1587
HP:0001167	Abnormal finger morphology	2260	FGFR1	ORPHA:93258
HP:0001167	Abnormal finger morphology	80144	FRAS1	OMIM:219000
HP:0001167	Abnormal finger morphology	8626	TP63	ORPHA:1896
HP:0001167	Abnormal finger morphology	55012	PPP2R3C	OMIM:618419
HP:0001167	Abnormal finger morphology	5053	PAH	ORPHA:2209
HP:0001167	Abnormal finger morphology	55280	CWF19L1	ORPHA:453521
HP:0001167	Abnormal finger morphology	9126	SMC3	ORPHA:199
HP:0001167	Abnormal finger morphology	9126	SMC3	OMIM:610759
HP:0001167	Abnormal finger morphology	6878	TAF6	ORPHA:199
HP:0001167	Abnormal finger morphology	5885	RAD21	ORPHA:199
HP:0001167	Abnormal finger morphology	9361	LONP1	OMIM:600373
HP:0001167	Abnormal finger morphology	58499	ZNF462	ORPHA:502430
HP:0001167	Abnormal finger morphology	58499	ZNF462	OMIM:618619
HP:0001167	Abnormal finger morphology	579	NKX3-2	OMIM:613330
HP:0001167	Abnormal finger morphology	145173	B3GLCT	OMIM:261540
HP:0001167	Abnormal finger morphology	80232	WDR26	OMIM:617616
HP:0001167	Abnormal finger morphology	22800	RRAS2	OMIM:618624
HP:0001167	Abnormal finger morphology	7547	ZIC3	OMIM:314390
HP:0001167	Abnormal finger morphology	8314	BAP1	OMIM:619762
HP:0001167	Abnormal finger morphology	118924	FRA10AC1	OMIM:620113
HP:0001167	Abnormal finger morphology	55906	ZC4H2	OMIM:314580
HP:0001167	Abnormal finger morphology	9419	CRIPT	OMIM:615789
HP:0001167	Abnormal finger morphology	4247	MGAT2	OMIM:212066
HP:0001167	Abnormal finger morphology	9487	PIGL	ORPHA:3474
HP:0001167	Abnormal finger morphology	81794	ADAMTS10	OMIM:277600
HP:0001167	Abnormal finger morphology	79158	GNPTAB	OMIM:252500
HP:0001167	Abnormal finger morphology	64135	IFIH1	OMIM:182250
HP:0001167	Abnormal finger morphology	65125	WNK1	OMIM:201300
HP:0001167	Abnormal finger morphology	54463	RETREG1	OMIM:201300
HP:0001167	Abnormal finger morphology	54463	RETREG1	OMIM:613115
HP:0001167	Abnormal finger morphology	6335	SCN9A	OMIM:201300
HP:0001167	Abnormal finger morphology	547	KIF1A	OMIM:201300
HP:0001167	Abnormal finger morphology	10651	MTX2	OMIM:619127
HP:0001167	Abnormal finger morphology	4921	DDR2	OMIM:618175
HP:0001167	Abnormal finger morphology	23586	RIGI	OMIM:616298
HP:0001167	Abnormal finger morphology	25923	ATL3	OMIM:615632
HP:0001167	Abnormal finger morphology	427	ASAH1	OMIM:228000
HP:0001167	Abnormal finger morphology	4853	NOTCH2	OMIM:102500
HP:0001167	Abnormal finger morphology	4626	MYH8	ORPHA:3377
HP:0001167	Abnormal finger morphology	2254	FGF9	ORPHA:3237
HP:0001167	Abnormal finger morphology	340419	RSPO2	OMIM:618022
HP:0001167	Abnormal finger morphology	8452	CUL3	OMIM:619239
HP:0001167	Abnormal finger morphology	5718	PSMD12	OMIM:617516
HP:0001167	Abnormal finger morphology	6223	RPS19	OMIM:105650
HP:0001167	Abnormal finger morphology	6223	RPS19	ORPHA:124
HP:0001167	Abnormal finger morphology	6138	RPL15	ORPHA:124
HP:0001167	Abnormal finger morphology	6224	RPS20	ORPHA:124
HP:0001167	Abnormal finger morphology	6165	RPL35A	ORPHA:124
HP:0001167	Abnormal finger morphology	6132	RPL8	ORPHA:124
HP:0001167	Abnormal finger morphology	6232	RPS27	ORPHA:124
HP:0001167	Abnormal finger morphology	6160	RPL31	ORPHA:124
HP:0001167	Abnormal finger morphology	6201	RPS7	ORPHA:124
HP:0001167	Abnormal finger morphology	6155	RPL27	ORPHA:124
HP:0001167	Abnormal finger morphology	6234	RPS28	ORPHA:124
HP:0001167	Abnormal finger morphology	6135	RPL11	ORPHA:124
HP:0001167	Abnormal finger morphology	6229	RPS24	ORPHA:124
HP:0001167	Abnormal finger morphology	6125	RPL5	ORPHA:124
HP:0001167	Abnormal finger morphology	6204	RPS10	ORPHA:124
HP:0001167	Abnormal finger morphology	2623	GATA1	ORPHA:124
HP:0001167	Abnormal finger morphology	6133	RPL9	ORPHA:124
HP:0001167	Abnormal finger morphology	6231	RPS26	ORPHA:124
HP:0001167	Abnormal finger morphology	11224	RPL35	ORPHA:124
HP:0001167	Abnormal finger morphology	6218	RPS17	ORPHA:124
HP:0001167	Abnormal finger morphology	6210	RPS15A	ORPHA:124
HP:0001167	Abnormal finger morphology	90121	TSR2	ORPHA:124
HP:0001167	Abnormal finger morphology	6141	RPL18	ORPHA:124
HP:0001167	Abnormal finger morphology	6235	RPS29	ORPHA:124
HP:0001167	Abnormal finger morphology	51816	ADA2	ORPHA:124
HP:0001167	Abnormal finger morphology	54101	RIPK4	OMIM:263650
HP:0001167	Abnormal finger morphology	54101	RIPK4	ORPHA:1234
HP:0001167	Abnormal finger morphology	29980	DONSON	OMIM:251230
HP:0001167	Abnormal finger morphology	1723	DHODH	OMIM:263750
HP:0001167	Abnormal finger morphology	324	APC	ORPHA:3258
HP:0001167	Abnormal finger morphology	4613	MYCN	OMIM:164280
HP:0001167	Abnormal finger morphology	4613	MYCN	ORPHA:391641
HP:0001167	Abnormal finger morphology	55636	CHD7	OMIM:214800
HP:0001167	Abnormal finger morphology	407975	MIR17HG	ORPHA:391646
HP:0001167	Abnormal finger morphology	4256	MGP	OMIM:245150
HP:0001167	Abnormal finger morphology	170691	ADAMTS17	ORPHA:3449
HP:0001167	Abnormal finger morphology	4053	LTBP2	ORPHA:3449
HP:0001167	Abnormal finger morphology	26100	WIPI2	OMIM:618453
HP:0001167	Abnormal finger morphology	9775	EIF4A3	OMIM:268305
HP:0001167	Abnormal finger morphology	3590	IL11RA	OMIM:614188
HP:0001167	Abnormal finger morphology	55733	HHAT	OMIM:600092
HP:0001167	Abnormal finger morphology	55733	HHAT	ORPHA:1422
HP:0001167	Abnormal finger morphology	5139	PDE3A	ORPHA:1276
HP:0001167	Abnormal finger morphology	5139	PDE3A	OMIM:112410
HP:0001167	Abnormal finger morphology	6662	SOX9	OMIM:114290
HP:0001167	Abnormal finger morphology	3417	IDH1	ORPHA:99646
HP:0001167	Abnormal finger morphology	1788	DNMT3A	OMIM:618724
HP:0001167	Abnormal finger morphology	1807	DPYS	OMIM:222748
HP:0001167	Abnormal finger morphology	9509	ADAMTS2	OMIM:225410
HP:0001167	Abnormal finger morphology	5144	PDE4D	ORPHA:439822
HP:0001167	Abnormal finger morphology	5144	PDE4D	OMIM:614613
HP:0001167	Abnormal finger morphology	64682	ANAPC1	ORPHA:221008
HP:0001167	Abnormal finger morphology	9555	MACROH2A1	ORPHA:1275
HP:0001167	Abnormal finger morphology	5307	PITX1	ORPHA:1275
HP:0001167	Abnormal finger morphology	6023	RMRP	ORPHA:175
HP:0001167	Abnormal finger morphology	9653	HS2ST1	OMIM:619194
HP:0001167	Abnormal finger morphology	55209	SETD5	ORPHA:404440
HP:0001167	Abnormal finger morphology	55209	SETD5	OMIM:615761
HP:0001167	Abnormal finger morphology	8815	BANF1	OMIM:614008
HP:0001167	Abnormal finger morphology	1300	COL10A1	OMIM:156500
HP:0001167	Abnormal finger morphology	5293	PIK3CD	ORPHA:221139
HP:0001167	Abnormal finger morphology	90417	KNSTRN	ORPHA:221139
HP:0001167	Abnormal finger morphology	10617	STAMBP	OMIM:614261
HP:0001167	Abnormal finger morphology	2335	FN1	ORPHA:93315
HP:0001167	Abnormal finger morphology	51412	ACTL6B	OMIM:618470
HP:0001167	Abnormal finger morphology	5744	PTHLH	ORPHA:93387
HP:0001167	Abnormal finger morphology	3764	KCNJ8	ORPHA:1517
HP:0001167	Abnormal finger morphology	10060	ABCC9	ORPHA:1517
HP:0001167	Abnormal finger morphology	29957	SLC25A24	ORPHA:2963
HP:0001167	Abnormal finger morphology	29957	SLC25A24	ORPHA:2095
HP:0001167	Abnormal finger morphology	29957	SLC25A24	OMIM:612289
HP:0001167	Abnormal finger morphology	24140	FTSJ1	OMIM:309549
HP:0001167	Abnormal finger morphology	54496	PRMT7	OMIM:617157
HP:0001167	Abnormal finger morphology	2475	MTOR	OMIM:616638
HP:0001167	Abnormal finger morphology	54	ACP5	ORPHA:1855
HP:0001167	Abnormal finger morphology	5281	PIGF	OMIM:619356
HP:0001167	Abnormal finger morphology	2677	GGCX	OMIM:277450
HP:0001167	Abnormal finger morphology	10283	CWC27	OMIM:250410
HP:0001167	Abnormal finger morphology	415	ARSL	ORPHA:79345
HP:0001167	Abnormal finger morphology	415	ARSL	OMIM:302950
HP:0001167	Abnormal finger morphology	26137	ZBTB20	OMIM:259050
HP:0001167	Abnormal finger morphology	60401	EDA2R	ORPHA:181
HP:0001167	Abnormal finger morphology	1896	EDA	ORPHA:181
HP:0001167	Abnormal finger morphology	3516	RBPJ	ORPHA:974
HP:0001167	Abnormal finger morphology	3516	RBPJ	OMIM:614814
HP:0001167	Abnormal finger morphology	4851	NOTCH1	ORPHA:974
HP:0001167	Abnormal finger morphology	57514	ARHGAP31	ORPHA:974
HP:0001167	Abnormal finger morphology	285203	EOGT	ORPHA:974
HP:0001167	Abnormal finger morphology	54567	DLL4	ORPHA:974
HP:0001167	Abnormal finger morphology	1186	CLCN7	ORPHA:53
HP:0001167	Abnormal finger morphology	25886	POC1A	OMIM:614813
HP:0001167	Abnormal finger morphology	6711	SPTBN1	OMIM:619475
HP:0001167	Abnormal finger morphology	71	ACTG1	ORPHA:2995
HP:0001167	Abnormal finger morphology	60	ACTB	ORPHA:2995
HP:0001167	Abnormal finger morphology	10992	SF3B2	OMIM:164210
HP:0001167	Abnormal finger morphology	6091	ROBO1	OMIM:620305
HP:0001167	Abnormal finger morphology	3911	LAMA5	OMIM:620076
HP:0001167	Abnormal finger morphology	56992	KIF15	ORPHA:261323
HP:0001167	Abnormal finger morphology	2131	EXT1	ORPHA:502
HP:0001167	Abnormal finger morphology	25839	COG4	OMIM:618150
HP:0001167	Abnormal finger morphology	25839	COG4	ORPHA:85172
HP:0001167	Abnormal finger morphology	9321	TRIP11	OMIM:184260
HP:0001167	Abnormal finger morphology	9451	EIF2AK3	OMIM:226980
HP:0001167	Abnormal finger morphology	406932	MIR140	OMIM:618618
HP:0001167	Abnormal finger morphology	5573	PRKAR1A	OMIM:101800
HP:0001167	Abnormal finger morphology	2074	ERCC6	OMIM:133540
HP:0001167	Abnormal finger morphology	1161	ERCC8	OMIM:216400
HP:0001167	Abnormal finger morphology	4796	TONSL	ORPHA:93357
HP:0001167	Abnormal finger morphology	28957	MRPS28	OMIM:618958
HP:0001167	Abnormal finger morphology	80347	COASY	OMIM:618266
HP:0001167	Abnormal finger morphology	54809	SAMD9	OMIM:617053
HP:0001167	Abnormal finger morphology	285489	DOK7	OMIM:618389
HP:0001167	Abnormal finger morphology	348180	CTU2	OMIM:618142
HP:0001167	Abnormal finger morphology	7841	MOGS	OMIM:606056
HP:0001167	Abnormal finger morphology	7841	MOGS	ORPHA:79330
HP:0001167	Abnormal finger morphology	256297	PTF1A	OMIM:609069
HP:0001167	Abnormal finger morphology	55593	OTUD5	OMIM:301056
HP:0001167	Abnormal finger morphology	129285	PPP1R21	OMIM:619383
HP:0001167	Abnormal finger morphology	8567	MADD	OMIM:619004
HP:0001167	Abnormal finger morphology	5297	PI4KA	OMIM:616531
HP:0001167	Abnormal finger morphology	5297	PI4KA	OMIM:619708
HP:0001167	Abnormal finger morphology	8985	PLOD3	OMIM:612394
HP:0001167	Abnormal finger morphology	5591	PRKDC	OMIM:615966
HP:0001167	Abnormal finger morphology	4654	MYOD1	OMIM:618975
HP:0001167	Abnormal finger morphology	2122	MECOM	OMIM:616738
HP:0001167	Abnormal finger morphology	26040	SETBP1	ORPHA:798
HP:0001167	Abnormal finger morphology	2121	EVC	ORPHA:952
HP:0001167	Abnormal finger morphology	132884	EVC2	ORPHA:952
HP:0001167	Abnormal finger morphology	10847	SRCAP	ORPHA:2044
HP:0001167	Abnormal finger morphology	10847	SRCAP	OMIM:136140
HP:0001167	Abnormal finger morphology	6477	SIAH1	OMIM:619314
HP:0001167	Abnormal finger morphology	10059	DNM1L	OMIM:614388
HP:0001167	Abnormal finger morphology	650	BMP2	ORPHA:261295
HP:0001167	Abnormal finger morphology	473	RERE	OMIM:616975
HP:0001167	Abnormal finger morphology	51132	RLIM	OMIM:300978
HP:0001167	Abnormal finger morphology	92579	G6PC3	OMIM:612541
HP:0001167	Abnormal finger morphology	64131	XYLT1	OMIM:615777
HP:0001167	Abnormal finger morphology	64131	XYLT1	ORPHA:370930
HP:0001167	Abnormal finger morphology	4212	MEIS2	OMIM:600987
HP:0001167	Abnormal finger morphology	285362	SUMF1	OMIM:272200
HP:0001167	Abnormal finger morphology	285362	SUMF1	ORPHA:585
HP:0001167	Abnormal finger morphology	79759	ZNF668	OMIM:620194
HP:0001167	Abnormal finger morphology	10236	HNRNPR	OMIM:620073
HP:0001167	Abnormal finger morphology	284252	KCTD1	OMIM:181270
HP:0001167	Abnormal finger morphology	1857	DVL3	OMIM:616894
HP:0001167	Abnormal finger morphology	4123	MAN2C1	OMIM:619775
HP:0001167	Abnormal finger morphology	60529	ALX4	ORPHA:60015
HP:0001167	Abnormal finger morphology	79989	IFT56	OMIM:619534
HP:0001167	Abnormal finger morphology	23512	SUZ12	ORPHA:3447
HP:0001167	Abnormal finger morphology	23404	EXOSC2	OMIM:617763
HP:0001167	Abnormal finger morphology	5587	PRKD1	OMIM:617364
HP:0001167	Abnormal finger morphology	865	CBFB	OMIM:620099
HP:0001167	Abnormal finger morphology	6840	SVIL	OMIM:619040
HP:0001167	Abnormal finger morphology	342035	GLDN	OMIM:617194
HP:0001167	Abnormal finger morphology	3861	KRT14	ORPHA:69087
HP:0001167	Abnormal finger morphology	57190	SELENON	ORPHA:2020
HP:0001167	Abnormal finger morphology	4633	MYL2	ORPHA:2020
HP:0001167	Abnormal finger morphology	3679	ITGA7	ORPHA:2020
HP:0001167	Abnormal finger morphology	9200	HACD1	ORPHA:2020
HP:0001167	Abnormal finger morphology	7170	TPM3	ORPHA:2020
HP:0001167	Abnormal finger morphology	51776	MAP3K20	ORPHA:2020
HP:0001167	Abnormal finger morphology	28982	FLVCR1	ORPHA:88628
HP:0001167	Abnormal finger morphology	28982	FLVCR1	OMIM:609033
HP:0001167	Abnormal finger morphology	5159	PDGFRB	OMIM:601812
HP:0001167	Abnormal finger morphology	22880	MORC2	ORPHA:466768
HP:0001167	Abnormal finger morphology	4747	NEFL	ORPHA:101085
HP:0001167	Abnormal finger morphology	1859	DYRK1A	ORPHA:464311
HP:0001167	Abnormal finger morphology	203859	ANO5	ORPHA:206549
HP:0001167	Abnormal finger morphology	6399	TRAPPC2	ORPHA:93284
HP:0001167	Abnormal finger morphology	5696	PSMB8	OMIM:256040
HP:0001167	Abnormal finger morphology	5692	PSMB4	OMIM:617591
HP:0001167	Abnormal finger morphology	4952	OCRL	OMIM:309000
HP:0001167	Abnormal finger morphology	4313	MMP2	OMIM:259600
HP:0001167	Abnormal finger morphology	3759	KCNJ2	OMIM:170390
HP:0001167	Abnormal finger morphology	2077	ERF	OMIM:617180
HP:0001167	Abnormal finger morphology	4883	NPR3	OMIM:619543
HP:0001167	Abnormal finger morphology	3043	HBB	ORPHA:232
HP:0001167	Abnormal finger morphology	374654	KIF7	ORPHA:166024
HP:0001167	Abnormal finger morphology	51098	IFT52	OMIM:617102
HP:0001167	Abnormal finger morphology	5965	RECQL	OMIM:620370
HP:0001167	Abnormal finger morphology	128	ADH5	OMIM:619151
HP:0001167	Abnormal finger morphology	3782	KCNN3	OMIM:618658
HP:0001167	Abnormal finger morphology	23522	KAT6B	OMIM:603736
HP:0001167	Abnormal finger morphology	4000	LMNA	OMIM:181350
HP:0001167	Abnormal finger morphology	4000	LMNA	OMIM:212112
HP:0001167	Abnormal finger morphology	84572	GNPTG	OMIM:252605
HP:0001167	Abnormal finger morphology	9150	CTDP1	ORPHA:48431
HP:0001167	Abnormal finger morphology	9898	UBAP2L	OMIM:620494
HP:0001167	Abnormal finger morphology	55249	YY1AP1	OMIM:602531
HP:0001167	Abnormal finger morphology	10466	COG5	ORPHA:263487
HP:0001167	Abnormal finger morphology	8092	ALX1	ORPHA:306542
HP:0001167	Abnormal finger morphology	150468	CKAP2L	OMIM:272440
HP:0001167	Abnormal finger morphology	10210	TOPORS	ORPHA:2754
HP:0001167	Abnormal finger morphology	9851	KIAA0753	ORPHA:2754
HP:0001167	Abnormal finger morphology	5147	PDE6D	ORPHA:2754
HP:0001167	Abnormal finger morphology	317662	FAM149B1	ORPHA:2754
HP:0001167	Abnormal finger morphology	6910	TBX5	OMIM:142900
HP:0001167	Abnormal finger morphology	84342	COG8	OMIM:611182
HP:0001167	Abnormal finger morphology	55784	MCTP2	ORPHA:1596
HP:0001167	Abnormal finger morphology	1747	DLX3	ORPHA:3352
HP:0001167	Abnormal finger morphology	1974	EIF4A2	OMIM:620455
HP:0001167	Abnormal finger morphology	3767	KCNJ11	ORPHA:79134
HP:0001167	Abnormal finger morphology	79731	NARS2	ORPHA:79134
HP:0001167	Abnormal finger morphology	6833	ABCC8	ORPHA:79134
HP:0001167	Abnormal finger morphology	2218	FKTN	ORPHA:272
HP:0001167	Abnormal finger morphology	8294	H4C9	OMIM:619951
HP:0001167	Abnormal finger morphology	3094	HINT1	ORPHA:324442
HP:0001167	Abnormal finger morphology	7355	SLC35A2	ORPHA:356961
HP:0001167	Abnormal finger morphology	118429	ANTXR2	ORPHA:2176
HP:0001167	Abnormal finger morphology	54968	TMEM70	ORPHA:1194
HP:0001167	Abnormal finger morphology	84466	MEGF10	OMIM:614399
HP:0001167	Abnormal finger morphology	10216	PRG4	ORPHA:2848
HP:0001167	Abnormal finger morphology	3508	IGHMBP2	OMIM:604320
HP:0001167	Abnormal finger morphology	3423	IDS	ORPHA:217085
HP:0001167	Abnormal finger morphology	3423	IDS	ORPHA:217093
HP:0001167	Abnormal finger morphology	64127	NOD2	OMIM:186580
HP:0001167	Abnormal finger morphology	64127	NOD2	ORPHA:90340
HP:0001167	Abnormal finger morphology	3425	IDUA	OMIM:607015
HP:0001167	Abnormal finger morphology	3425	IDUA	ORPHA:93473
HP:0001167	Abnormal finger morphology	4593	MUSK	OMIM:208150
HP:0001167	Abnormal finger morphology	4593	MUSK	ORPHA:994
HP:0001167	Abnormal finger morphology	56006	SMG9	OMIM:616920
HP:0001167	Abnormal finger morphology	9508	ADAMTS3	ORPHA:2136
HP:0001167	Abnormal finger morphology	147372	CCBE1	ORPHA:2136
HP:0001167	Abnormal finger morphology	79633	FAT4	ORPHA:2136
HP:0001167	Abnormal finger morphology	5189	PEX1	ORPHA:3220
HP:0001167	Abnormal finger morphology	5190	PEX6	ORPHA:3220
HP:0001167	Abnormal finger morphology	9719	ADAMTSL2	OMIM:231050
HP:0001167	Abnormal finger morphology	55612	FERMT1	ORPHA:2908
HP:0001167	Abnormal finger morphology	23102	TBC1D2B	OMIM:619323
HP:0001167	Abnormal finger morphology	2068	ERCC2	OMIM:610756
HP:0001167	Abnormal finger morphology	2068	ERCC2	ORPHA:1466
HP:0001167	Abnormal finger morphology	2073	ERCC5	ORPHA:1466
HP:0001167	Abnormal finger morphology	134701	RIPPLY2	ORPHA:2311
HP:0001167	Abnormal finger morphology	10683	DLL3	ORPHA:2311
HP:0001167	Abnormal finger morphology	84667	HES7	ORPHA:2311
HP:0001167	Abnormal finger morphology	145873	MESP2	ORPHA:2311
HP:0001167	Abnormal finger morphology	4927	NUP88	ORPHA:994
HP:0001167	Abnormal finger morphology	5913	RAPSN	ORPHA:994
HP:0001167	Abnormal finger morphology	6572	SLC18A3	ORPHA:994
HP:0001167	Abnormal finger morphology	23443	SLC35A3	OMIM:615553
HP:0001167	Abnormal finger morphology	25914	RTTN	ORPHA:468631
HP:0001167	Abnormal finger morphology	26092	TOR1AIP1	OMIM:617072
HP:0001167	Abnormal finger morphology	23529	CLCF1	ORPHA:1545
HP:0001167	Abnormal finger morphology	3187	HNRNPH1	OMIM:620083
HP:0001167	Abnormal finger morphology	1080	CFTR	OMIM:219700
HP:0001167	Abnormal finger morphology	2212	FCGR2A	OMIM:219700
HP:0001167	Abnormal finger morphology	7040	TGFB1	OMIM:219700
HP:0001167	Abnormal finger morphology	3071	NCKAP1L	OMIM:618982
HP:0001167	Abnormal finger morphology	114548	NLRP3	OMIM:191900
HP:0001167	Abnormal finger morphology	182	JAG1	OMIM:619574
HP:0001167	Abnormal finger morphology	7015	TERT	OMIM:614742
HP:0001167	Abnormal finger morphology	7015	TERT	ORPHA:2032
HP:0001167	Abnormal finger morphology	7015	TERT	OMIM:178500
HP:0001167	Abnormal finger morphology	6794	STK11	OMIM:175200
HP:0001167	Abnormal finger morphology	987	LRBA	OMIM:614700
HP:0001167	Abnormal finger morphology	6578	SLCO2A1	OMIM:167100
HP:0001167	Abnormal finger morphology	6440	SFTPC	ORPHA:2032
HP:0001167	Abnormal finger morphology	6440	SFTPC	OMIM:178500
HP:0001167	Abnormal finger morphology	729238	SFTPA2	ORPHA:2032
HP:0001167	Abnormal finger morphology	729238	SFTPA2	OMIM:178500
HP:0001167	Abnormal finger morphology	79991	STN1	ORPHA:2032
HP:0001167	Abnormal finger morphology	653509	SFTPA1	ORPHA:2032
HP:0001167	Abnormal finger morphology	21	ABCA3	ORPHA:2032
HP:0001167	Abnormal finger morphology	1832	DSP	ORPHA:2032
HP:0001167	Abnormal finger morphology	1832	DSP	OMIM:605676
HP:0001167	Abnormal finger morphology	727897	MUC5B	ORPHA:2032
HP:0001167	Abnormal finger morphology	727897	MUC5B	OMIM:178500
HP:0001167	Abnormal finger morphology	10144	FAM13A	ORPHA:2032
HP:0001167	Abnormal finger morphology	23250	ATP11A	ORPHA:2032
HP:0001167	Abnormal finger morphology	91039	DPP9	ORPHA:2032
HP:0001167	Abnormal finger morphology	51750	RTEL1	ORPHA:2032
HP:0001167	Abnormal finger morphology	7012	TERC	ORPHA:2032
HP:0001167	Abnormal finger morphology	5073	PARN	ORPHA:2032
HP:0001167	Abnormal finger morphology	3339	HSPG2	ORPHA:1865
HP:0001167	Abnormal finger morphology	10804	GJB6	ORPHA:189
HP:0001167	Abnormal finger morphology	440275	EIF2AK4	ORPHA:199241
HP:0001167	Abnormal finger morphology	1604	CD55	OMIM:226300
HP:0001167	Abnormal finger morphology	10568	SLC34A2	ORPHA:60025
HP:0001167	Abnormal finger morphology	8884	SLC5A6	OMIM:618973
HP:0001167	Abnormal finger morphology	10125	RASGRP1	OMIM:618534
HP:0001167	Abnormal finger morphology	59067	IL21	OMIM:615767
HP:0001167	Abnormal finger morphology	657	BMPR1A	ORPHA:79076
HP:0001167	Abnormal finger morphology	27152	INTU	OMIM:617926
HP:0001167	Abnormal finger morphology	7092	TLL1	ORPHA:99106
HP:0001167	Abnormal finger morphology	64132	XYLT2	OMIM:605822
HP:0001167	Abnormal finger morphology	10682	EBP	ORPHA:401973
HP:0001167	Abnormal finger morphology	10682	EBP	OMIM:300960
HP:0001167	Abnormal finger morphology	274	BIN1	ORPHA:169186
HP:0001167	Abnormal finger morphology	10290	SPEG	ORPHA:169186
HP:0001167	Abnormal finger morphology	6261	RYR1	ORPHA:169186
HP:0001167	Abnormal finger morphology	7273	TTN	ORPHA:169186
HP:0001167	Abnormal finger morphology	57459	GATAD2B	OMIM:615074
HP:0001167	Abnormal finger morphology	57459	GATAD2B	ORPHA:363686
HP:0001167	Abnormal finger morphology	8367	H4C5	OMIM:619950
HP:0001167	Abnormal finger morphology	1182	CLCN3	OMIM:619512
HP:0001167	Abnormal finger morphology	9853	RUSC2	OMIM:617773
HP:0001167	Abnormal finger morphology	6660	SOX5	OMIM:616803
HP:0001167	Abnormal finger morphology	51520	LARS1	OMIM:615438
HP:0001167	Abnormal finger morphology	54499	TMCO1	OMIM:213980
HP:0001167	Abnormal finger morphology	11128	POLR3A	OMIM:264090
HP:0001167	Abnormal finger morphology	11128	POLR3A	ORPHA:3455
HP:0001167	Abnormal finger morphology	2200	FBN1	ORPHA:284979
HP:0001167	Abnormal finger morphology	2200	FBN1	OMIM:616914
HP:0001167	Abnormal finger morphology	50814	NSDHL	ORPHA:251383
HP:0001167	Abnormal finger morphology	1301	COL11A1	OMIM:604841
HP:0001167	Abnormal finger morphology	116931	MED12L	OMIM:618872
HP:0001167	Abnormal finger morphology	203068	TUBB	OMIM:156610
HP:0001167	Abnormal finger morphology	60676	PAPPA2	OMIM:619489
HP:0001167	Abnormal finger morphology	1278	COL1A2	ORPHA:230851
HP:0001167	Abnormal finger morphology	2624	GATA2	OMIM:614038
HP:0001167	Abnormal finger morphology	9373	PLAA	ORPHA:521426
HP:0001167	Abnormal finger morphology	9373	PLAA	OMIM:617527
HP:0001167	Abnormal finger morphology	30008	EFEMP2	OMIM:614437
HP:0001167	Abnormal finger morphology	9772	TMEM94	OMIM:618316
HP:0001167	Abnormal finger morphology	7291	TWIST1	OMIM:617746
HP:0001167	Abnormal finger morphology	10982	MAPRE2	OMIM:616734
HP:0001167	Abnormal finger morphology	79971	WLS	OMIM:619648
HP:0001167	Abnormal finger morphology	2556	GABRA3	OMIM:301091
HP:0001167	Abnormal finger morphology	1376	CPT2	OMIM:608836
HP:0001167	Abnormal finger morphology	5373	PMM2	ORPHA:79318
HP:0001167	Abnormal finger morphology	51651	PTRH2	OMIM:616263
HP:0001167	Abnormal finger morphology	51651	PTRH2	ORPHA:456312
HP:0001167	Abnormal finger morphology	63035	BCORL1	OMIM:301029
HP:0001167	Abnormal finger morphology	8260	NAA10	OMIM:300855
HP:0001167	Abnormal finger morphology	10265	IRX5	OMIM:611174
HP:0001167	Abnormal finger morphology	6709	SPTAN1	OMIM:620528
HP:0001167	Abnormal finger morphology	6611	SMS	OMIM:309583
HP:0001167	Abnormal finger morphology	2316	FLNA	ORPHA:1826
HP:0001167	Abnormal finger morphology	6885	MAP3K7	ORPHA:1826
HP:0001167	Abnormal finger morphology	79087	ALG12	ORPHA:79324
HP:0001167	Abnormal finger morphology	1795	DOCK3	OMIM:618292
HP:0001167	Abnormal finger morphology	22827	PUF60	ORPHA:508488
HP:0001167	Abnormal finger morphology	10195	ALG3	OMIM:601110
HP:0001167	Abnormal finger morphology	7703	PCGF2	OMIM:618371
HP:0001167	Abnormal finger morphology	9496	TBX4	ORPHA:261279
HP:0001167	Abnormal finger morphology	8726	EED	OMIM:617561
HP:0001167	Abnormal finger morphology	57178	ZMIZ1	OMIM:618659
HP:0001167	Abnormal finger morphology	92949	ADAMTSL1	ORPHA:521445
HP:0001167	Abnormal finger morphology	4929	NR4A2	ORPHA:1617
HP:0001167	Abnormal finger morphology	10716	TBR1	ORPHA:1617
HP:0001167	Abnormal finger morphology	64864	RFX7	OMIM:620330
HP:0001167	Abnormal finger morphology	9990	SLC12A6	OMIM:218000
HP:0001167	Abnormal finger morphology	26227	PHGDH	OMIM:256520
HP:0001167	Abnormal finger morphology	55768	NGLY1	ORPHA:404454
HP:0001169	Broad palm	54808	DYM	OMIM:223800
HP:0001169	Broad palm	1280	COL2A1	OMIM:271700
HP:0001169	Broad palm	3930	LBR	OMIM:215140
HP:0001169	Broad palm	6197	RPS6KA3	OMIM:303600
HP:0001169	Broad palm	4921	DDR2	OMIM:271665
HP:0001169	Broad palm	3549	IHH	OMIM:112500
HP:0001169	Broad palm	2245	FGD1	OMIM:305400
HP:0001169	Broad palm	2245	FGD1	ORPHA:915
HP:0001169	Broad palm	9131	AIFM1	OMIM:300232
HP:0001169	Broad palm	10743	RAI1	OMIM:182290
HP:0001169	Broad palm	10743	RAI1	ORPHA:819
HP:0001169	Broad palm	145173	B3GLCT	OMIM:261540
HP:0001169	Broad palm	23135	KDM6B	OMIM:618505
HP:0001169	Broad palm	54880	BCOR	ORPHA:2712
HP:0001169	Broad palm	1778	DYNC1H1	OMIM:614563
HP:0001169	Broad palm	2260	FGFR1	OMIM:166250
HP:0001169	Broad palm	5290	PIK3CA	ORPHA:140944
HP:0001169	Broad palm	9231	DLG5	OMIM:620703
HP:0001169	Broad palm	54543	TOMM7	OMIM:620601
HP:0001169	Broad palm	4796	TONSL	ORPHA:93357
HP:0001169	Broad palm	5745	PTH1R	ORPHA:79106
HP:0001169	Broad palm	79718	TBL1XR1	OMIM:602342
HP:0001169	Broad palm	2200	FBN1	OMIM:608328
HP:0001169	Broad palm	171023	ASXL1	OMIM:605039
HP:0001169	Broad palm	5277	PIGA	OMIM:300868
HP:0001169	Broad palm	57560	IFT80	OMIM:611263
HP:0001169	Broad palm	55012	PPP2R3C	OMIM:618419
HP:0001169	Broad palm	23384	SPECC1L	OMIM:145420
HP:0001169	Broad palm	23524	SRRM2	OMIM:620439
HP:0001169	Broad palm	22907	DHX30	OMIM:617804
HP:0001169	Broad palm	10664	CTCF	OMIM:615502
HP:0001169	Broad palm	2314	FLII	ORPHA:819
HP:0001169	Broad palm	23096	IQSEC2	ORPHA:819
HP:0001169	Broad palm	10522	DEAF1	ORPHA:819
HP:0001169	Broad palm	2719	GPC3	OMIM:312870
HP:0001169	Broad palm	2239	GPC4	OMIM:312870
HP:0001169	Broad palm	5573	PRKAR1A	OMIM:101800
HP:0001169	Broad palm	2799	GNS	OMIM:252940
HP:0001169	Broad palm	2273	FHL1	OMIM:300280
HP:0001169	Broad palm	55343	SLC35C1	ORPHA:99843
HP:0001169	Broad palm	81794	ADAMTS10	OMIM:277600
HP:0030490	Exudative vitreoretinopathy	4041	LRP5	ORPHA:2788
HP:0030490	Exudative vitreoretinopathy	4041	LRP5	OMIM:133780
HP:0030490	Exudative vitreoretinopathy	4041	LRP5	OMIM:601813
HP:0030490	Exudative vitreoretinopathy	23554	TSPAN12	OMIM:613310
HP:0030490	Exudative vitreoretinopathy	8322	FZD4	OMIM:133780
HP:0030490	Exudative vitreoretinopathy	79797	ZNF408	OMIM:616468
HP:0030490	Exudative vitreoretinopathy	1499	CTNNB1	OMIM:617572
HP:0030490	Exudative vitreoretinopathy	1499	CTNNB1	OMIM:615075
HP:0030490	Exudative vitreoretinopathy	8314	BAP1	OMIM:619762
HP:0030490	Exudative vitreoretinopathy	1462	VCAN	OMIM:143200
HP:0030490	Exudative vitreoretinopathy	4693	NDP	OMIM:305390
HP:0030499	Macular drusen	2202	EFEMP1	ORPHA:75376
HP:0030499	Macular drusen	3075	CFH	ORPHA:75376
HP:0030499	Macular drusen	3426	CFI	ORPHA:75376
HP:0030499	Macular drusen	9094	UNC119	OMIM:620342
HP:0030499	Macular drusen	348	APOE	OMIM:603075
HP:0030499	Macular drusen	10878	CFHR3	OMIM:603075
HP:0030499	Macular drusen	83872	HMCN1	OMIM:603075
HP:0030499	Macular drusen	3078	CFHR1	OMIM:603075
HP:0030498	Macular thickening	10594	PRPF8	OMIM:600059
HP:0030498	Macular thickening	10594	PRPF8	ORPHA:791
HP:0030498	Macular thickening	92840	REEP6	ORPHA:791
HP:0030498	Macular thickening	92840	REEP6	OMIM:617304
HP:0030498	Macular thickening	6094	ROM1	ORPHA:791
HP:0030498	Macular thickening	6017	RLBP1	ORPHA:791
HP:0030498	Macular thickening	6017	RLBP1	ORPHA:52427
HP:0030498	Macular thickening	7401	CLRN1	ORPHA:791
HP:0030498	Macular thickening	24	ABCA4	ORPHA:791
HP:0030498	Macular thickening	130557	ZNF513	ORPHA:791
HP:0030498	Macular thickening	582	BBS1	ORPHA:791
HP:0030498	Macular thickening	92211	CDHR1	ORPHA:791
HP:0030498	Macular thickening	23568	ARL2BP	ORPHA:791
HP:0030498	Macular thickening	6121	RPE65	ORPHA:791
HP:0030498	Macular thickening	54806	AHI1	ORPHA:791
HP:0030498	Macular thickening	6101	RP1	ORPHA:791
HP:0030498	Macular thickening	3419	IDH3A	ORPHA:791
HP:0030498	Macular thickening	3419	IDH3A	OMIM:619007
HP:0030498	Macular thickening	4751	NEK2	ORPHA:791
HP:0030498	Macular thickening	346007	EYS	ORPHA:791
HP:0030498	Macular thickening	8100	IFT88	ORPHA:791
HP:0030498	Macular thickening	23020	SNRNP200	ORPHA:791
HP:0030498	Macular thickening	762	CA4	ORPHA:791
HP:0030498	Macular thickening	196	AHR	ORPHA:791
HP:0030498	Macular thickening	3614	IMPDH1	ORPHA:791
HP:0030498	Macular thickening	123016	TTC8	ORPHA:791
HP:0030498	Macular thickening	6103	RPGR	ORPHA:791
HP:0030498	Macular thickening	1406	CRX	ORPHA:791
HP:0030498	Macular thickening	5148	PDE6G	ORPHA:791
HP:0030498	Macular thickening	5148	PDE6G	OMIM:613582
HP:0030498	Macular thickening	26160	IFT172	ORPHA:791
HP:0030498	Macular thickening	583	BBS2	ORPHA:791
HP:0030498	Macular thickening	4117	MAK	ORPHA:791
HP:0030498	Macular thickening	25794	FSCN2	ORPHA:791
HP:0030498	Macular thickening	375298	CERKL	ORPHA:791
HP:0030498	Macular thickening	3420	IDH3B	ORPHA:791
HP:0030498	Macular thickening	57670	KIAA1549	ORPHA:791
HP:0030498	Macular thickening	57670	KIAA1549	OMIM:618613
HP:0030498	Macular thickening	7275	TUB	ORPHA:791
HP:0030498	Macular thickening	24148	PRPF6	ORPHA:791
HP:0030498	Macular thickening	23418	CRB1	ORPHA:791
HP:0030498	Macular thickening	10461	MERTK	ORPHA:791
HP:0030498	Macular thickening	57709	SLC7A14	ORPHA:791
HP:0030498	Macular thickening	768206	PRCD	ORPHA:791
HP:0030498	Macular thickening	7399	USH2A	ORPHA:791
HP:0030498	Macular thickening	23370	ARHGEF18	ORPHA:791
HP:0030498	Macular thickening	23370	ARHGEF18	OMIM:617433
HP:0030498	Macular thickening	5949	RBP3	ORPHA:791
HP:0030498	Macular thickening	6010	RHO	ORPHA:791
HP:0030498	Macular thickening	6010	RHO	ORPHA:52427
HP:0030498	Macular thickening	9227	LRAT	ORPHA:791
HP:0030498	Macular thickening	84140	FAM161A	ORPHA:791
HP:0030498	Macular thickening	55812	SPATA7	ORPHA:791
HP:0030498	Macular thickening	55624	POMGNT1	ORPHA:791
HP:0030498	Macular thickening	55624	POMGNT1	OMIM:617123
HP:0030498	Macular thickening	403	ARL3	ORPHA:791
HP:0030498	Macular thickening	403	ARL3	OMIM:618173
HP:0030498	Macular thickening	5145	PDE6A	ORPHA:791
HP:0030498	Macular thickening	10210	TOPORS	ORPHA:791
HP:0030498	Macular thickening	8842	PROM1	ORPHA:791
HP:0030498	Macular thickening	9128	PRPF4	ORPHA:791
HP:0030498	Macular thickening	145226	RDH12	ORPHA:791
HP:0030498	Macular thickening	50939	IMPG2	ORPHA:791
HP:0030498	Macular thickening	57545	CC2D2A	ORPHA:791
HP:0030498	Macular thickening	8481	OFD1	ORPHA:791
HP:0030498	Macular thickening	49855	SCAPER	ORPHA:791
HP:0030498	Macular thickening	9742	IFT140	ORPHA:791
HP:0030498	Macular thickening	2979	GUCA1B	ORPHA:791
HP:0030498	Macular thickening	1259	CNGA1	ORPHA:791
HP:0030498	Macular thickening	1258	CNGB1	ORPHA:791
HP:0030498	Macular thickening	60509	AGBL5	ORPHA:791
HP:0030498	Macular thickening	5961	PRPH2	ORPHA:791
HP:0030498	Macular thickening	5961	PRPH2	ORPHA:52427
HP:0030498	Macular thickening	388939	PCARE	ORPHA:791
HP:0030498	Macular thickening	7439	BEST1	ORPHA:791
HP:0030498	Macular thickening	9785	DHX38	ORPHA:791
HP:0030498	Macular thickening	7287	TULP1	ORPHA:791
HP:0030498	Macular thickening	5995	RGR	ORPHA:791
HP:0030498	Macular thickening	9129	PRPF3	ORPHA:791
HP:0030498	Macular thickening	55975	KLHL7	ORPHA:791
HP:0030498	Macular thickening	55975	KLHL7	OMIM:612943
HP:0030498	Macular thickening	3617	IMPG1	ORPHA:791
HP:0030498	Macular thickening	94137	RP1L1	ORPHA:791
HP:0030498	Macular thickening	94137	RP1L1	OMIM:618826
HP:0030498	Macular thickening	5158	PDE6B	ORPHA:791
HP:0030498	Macular thickening	6102	RP2	ORPHA:791
HP:0030498	Macular thickening	55857	KIZ	ORPHA:791
HP:0030498	Macular thickening	64218	SEMA4A	ORPHA:791
HP:0030498	Macular thickening	157657	CFAP418	ORPHA:791
HP:0030498	Macular thickening	84100	ARL6	ORPHA:791
HP:0030498	Macular thickening	6295	SAG	ORPHA:791
HP:0030498	Macular thickening	79947	DHDDS	ORPHA:791
HP:0030498	Macular thickening	79947	DHDDS	OMIM:613861
HP:0030498	Macular thickening	285440	CYP4V2	ORPHA:41751
HP:0030498	Macular thickening	57096	RPGRIP1	OMIM:608194
HP:0030498	Macular thickening	5959	RDH5	ORPHA:52427
HP:0030498	Macular thickening	64127	NOD2	OMIM:186580
HP:0030498	Macular thickening	83552	MFRP	OMIM:611040
HP:0030498	Macular thickening	4942	OAT	OMIM:258870
HP:0030498	Macular thickening	7428	VHL	ORPHA:892
HP:0030498	Macular thickening	595	CCND1	ORPHA:892
HP:0030498	Macular thickening	10002	NR2E3	OMIM:268100
HP:0030498	Macular thickening	26121	PRPF31	OMIM:600138
HP:0030498	Macular thickening	4693	NDP	ORPHA:891
HP:0030498	Macular thickening	1499	CTNNB1	ORPHA:891
HP:0030498	Macular thickening	23554	TSPAN12	ORPHA:891
HP:0030498	Macular thickening	4041	LRP5	ORPHA:891
HP:0030498	Macular thickening	79797	ZNF408	ORPHA:891
HP:0030498	Macular thickening	8322	FZD4	ORPHA:891
HP:0030498	Macular thickening	11277	TREX1	ORPHA:247691
HP:0030498	Macular thickening	11277	TREX1	OMIM:192315
HP:0030498	Macular thickening	1121	CHM	ORPHA:180
HP:0030498	Macular thickening	4901	NRL	OMIM:613750
HP:0030498	Macular thickening	6100	RP9	OMIM:180104
HP:0030498	Macular thickening	51095	TRNT1	OMIM:616959
HP:0030498	Macular thickening	3105	HLA-A	ORPHA:179
HP:0030498	Macular thickening	114902	C1QTNF5	ORPHA:67042
HP:0030498	Macular thickening	138050	HGSNAT	OMIM:616544
HP:0030498	Macular thickening	114548	NLRP3	OMIM:148200
HP:0030498	Macular thickening	324	APC	ORPHA:99818
HP:0030498	Macular thickening	4771	NF2	ORPHA:637
HP:0030498	Macular thickening	4771	NF2	OMIM:101000
HP:0030496	Macular exudate	4693	NDP	ORPHA:891
HP:0030496	Macular exudate	1499	CTNNB1	ORPHA:891
HP:0030496	Macular exudate	23554	TSPAN12	ORPHA:891
HP:0030496	Macular exudate	4041	LRP5	ORPHA:891
HP:0030496	Macular exudate	79797	ZNF408	ORPHA:891
HP:0030496	Macular exudate	8322	FZD4	ORPHA:891
HP:0030495	Abnormality morphology of the macular vasculature	4693	NDP	ORPHA:891
HP:0030495	Abnormality morphology of the macular vasculature	1499	CTNNB1	ORPHA:891
HP:0030495	Abnormality morphology of the macular vasculature	23554	TSPAN12	ORPHA:891
HP:0030495	Abnormality morphology of the macular vasculature	4041	LRP5	ORPHA:891
HP:0030495	Abnormality morphology of the macular vasculature	79797	ZNF408	ORPHA:891
HP:0030495	Abnormality morphology of the macular vasculature	8322	FZD4	ORPHA:891
HP:0004325	Decreased body weight	1718	DHCR24	OMIM:602398
HP:0004325	Decreased body weight	1718	DHCR24	ORPHA:35107
HP:0004325	Decreased body weight	3651	PDX1	OMIM:260370
HP:0004325	Decreased body weight	3651	PDX1	ORPHA:99885
HP:0004325	Decreased body weight	4524	MTHFR	ORPHA:395
HP:0004325	Decreased body weight	6555	SLC10A2	OMIM:613291
HP:0004325	Decreased body weight	7428	VHL	OMIM:263400
HP:0004325	Decreased body weight	26235	FBXL4	OMIM:615471
HP:0004325	Decreased body weight	340533	NEXMIF	OMIM:300912
HP:0004325	Decreased body weight	5993	RFX5	OMIM:620816
HP:0004325	Decreased body weight	5993	RFX5	ORPHA:572
HP:0004325	Decreased body weight	5994	RFXAP	OMIM:620817
HP:0004325	Decreased body weight	5994	RFXAP	ORPHA:572
HP:0004325	Decreased body weight	5913	RAPSN	OMIM:616326
HP:0004325	Decreased body weight	79827	CLMP	OMIM:615237
HP:0004325	Decreased body weight	10059	DNM1L	OMIM:614388
HP:0004325	Decreased body weight	5238	PGM3	ORPHA:443811
HP:0004325	Decreased body weight	5238	PGM3	OMIM:615816
HP:0004325	Decreased body weight	4897	NRCAM	OMIM:619833
HP:0004325	Decreased body weight	84334	COA8	ORPHA:436271
HP:0004325	Decreased body weight	1131	CHRM3	ORPHA:2970
HP:0004325	Decreased body weight	51	ACOX1	ORPHA:2971
HP:0004325	Decreased body weight	3909	LAMA3	ORPHA:79404
HP:0004325	Decreased body weight	3909	LAMA3	OMIM:226700
HP:0004325	Decreased body weight	3918	LAMC2	ORPHA:79404
HP:0004325	Decreased body weight	3918	LAMC2	OMIM:226700
HP:0004325	Decreased body weight	3914	LAMB3	ORPHA:79404
HP:0004325	Decreased body weight	3914	LAMB3	OMIM:226700
HP:0004325	Decreased body weight	4552	MTRR	OMIM:236270
HP:0004325	Decreased body weight	4552	MTRR	ORPHA:2169
HP:0004325	Decreased body weight	197131	UBR1	OMIM:243800
HP:0004325	Decreased body weight	197131	UBR1	ORPHA:2315
HP:0004325	Decreased body weight	80816	ASXL3	OMIM:615485
HP:0004325	Decreased body weight	4141	MARS1	OMIM:615486
HP:0004325	Decreased body weight	5651	TMPRSS15	OMIM:226200
HP:0004325	Decreased body weight	27245	AHDC1	ORPHA:412069
HP:0004325	Decreased body weight	27245	AHDC1	OMIM:615829
HP:0004325	Decreased body weight	2137	EXTL3	OMIM:617425
HP:0004325	Decreased body weight	166378	AFG2A	OMIM:616577
HP:0004325	Decreased body weight	5184	PEPD	OMIM:170100
HP:0004325	Decreased body weight	84466	MEGF10	OMIM:614399
HP:0004325	Decreased body weight	10686	CLDN16	OMIM:248250
HP:0004325	Decreased body weight	16	AARS1	OMIM:616339
HP:0004325	Decreased body weight	16	AARS1	ORPHA:442835
HP:0004325	Decreased body weight	3716	JAK1	OMIM:618999
HP:0004325	Decreased body weight	3508	IGHMBP2	OMIM:604320
HP:0004325	Decreased body weight	1161	ERCC8	OMIM:216400
HP:0004325	Decreased body weight	1161	ERCC8	ORPHA:90321
HP:0004325	Decreased body weight	79158	GNPTAB	OMIM:252500
HP:0004325	Decreased body weight	79158	GNPTAB	OMIM:252600
HP:0004325	Decreased body weight	7252	TSHB	ORPHA:90674
HP:0004325	Decreased body weight	29957	SLC25A24	ORPHA:2963
HP:0004325	Decreased body weight	29957	SLC25A24	OMIM:612289
HP:0004325	Decreased body weight	2188	FANCF	OMIM:603467
HP:0004325	Decreased body weight	284403	WDR62	OMIM:604317
HP:0004325	Decreased body weight	8029	CUBN	ORPHA:35858
HP:0004325	Decreased body weight	81693	AMN	ORPHA:35858
HP:0004325	Decreased body weight	1080	CFTR	OMIM:219700
HP:0004325	Decreased body weight	1080	CFTR	ORPHA:586
HP:0004325	Decreased body weight	2212	FCGR2A	OMIM:219700
HP:0004325	Decreased body weight	7040	TGFB1	OMIM:219700
HP:0004325	Decreased body weight	7040	TGFB1	ORPHA:586
HP:0004325	Decreased body weight	7040	TGFB1	OMIM:618213
HP:0004325	Decreased body weight	6023	RMRP	ORPHA:175
HP:0004325	Decreased body weight	6023	RMRP	ORPHA:39041
HP:0004325	Decreased body weight	3190	HNRNPK	OMIM:616580
HP:0004325	Decreased body weight	657	BMPR1A	OMIM:174900
HP:0004325	Decreased body weight	4089	SMAD4	OMIM:174900
HP:0004325	Decreased body weight	1777	DNASE2	OMIM:619858
HP:0004325	Decreased body weight	1716	DGUOK	OMIM:251880
HP:0004325	Decreased body weight	857	CAV1	OMIM:606721
HP:0004325	Decreased body weight	857	CAV1	ORPHA:528
HP:0004325	Decreased body weight	1594	CYP27B1	OMIM:264700
HP:0004325	Decreased body weight	1594	CYP27B1	ORPHA:289157
HP:0004325	Decreased body weight	64121	RRAGC	OMIM:620609
HP:0004325	Decreased body weight	9997	SCO2	OMIM:608908
HP:0004325	Decreased body weight	9997	SCO2	OMIM:604377
HP:0004325	Decreased body weight	23327	NEDD4L	OMIM:617201
HP:0004325	Decreased body weight	5073	PARN	OMIM:616353
HP:0004325	Decreased body weight	5073	PARN	ORPHA:3322
HP:0004325	Decreased body weight	8550	MAPKAPK5	OMIM:619869
HP:0004325	Decreased body weight	28514	DLL1	ORPHA:93926
HP:0004325	Decreased body weight	28514	DLL1	ORPHA:93924
HP:0004325	Decreased body weight	28514	DLL1	ORPHA:93925
HP:0004325	Decreased body weight	28514	DLL1	ORPHA:220386
HP:0004325	Decreased body weight	2253	FGF8	ORPHA:93926
HP:0004325	Decreased body weight	2253	FGF8	ORPHA:93924
HP:0004325	Decreased body weight	2253	FGF8	ORPHA:93925
HP:0004325	Decreased body weight	2253	FGF8	ORPHA:220386
HP:0004325	Decreased body weight	6496	SIX3	ORPHA:93926
HP:0004325	Decreased body weight	6496	SIX3	ORPHA:93924
HP:0004325	Decreased body weight	6496	SIX3	ORPHA:93925
HP:0004325	Decreased body weight	6496	SIX3	ORPHA:220386
HP:0004325	Decreased body weight	7050	TGIF1	ORPHA:93926
HP:0004325	Decreased body weight	7050	TGIF1	ORPHA:93924
HP:0004325	Decreased body weight	7050	TGIF1	ORPHA:93925
HP:0004325	Decreased body weight	7050	TGIF1	ORPHA:220386
HP:0004325	Decreased body weight	4838	NODAL	ORPHA:93926
HP:0004325	Decreased body weight	4838	NODAL	ORPHA:93924
HP:0004325	Decreased body weight	4838	NODAL	ORPHA:93925
HP:0004325	Decreased body weight	4838	NODAL	ORPHA:220386
HP:0004325	Decreased body weight	6469	SHH	ORPHA:93926
HP:0004325	Decreased body weight	6469	SHH	ORPHA:93924
HP:0004325	Decreased body weight	6469	SHH	ORPHA:93925
HP:0004325	Decreased body weight	6469	SHH	ORPHA:220386
HP:0004325	Decreased body weight	7546	ZIC2	ORPHA:93926
HP:0004325	Decreased body weight	7546	ZIC2	ORPHA:93924
HP:0004325	Decreased body weight	7546	ZIC2	ORPHA:93925
HP:0004325	Decreased body weight	7546	ZIC2	ORPHA:220386
HP:0004325	Decreased body weight	6491	STIL	ORPHA:93926
HP:0004325	Decreased body weight	6491	STIL	ORPHA:93924
HP:0004325	Decreased body weight	6491	STIL	ORPHA:93925
HP:0004325	Decreased body weight	6491	STIL	ORPHA:220386
HP:0004325	Decreased body weight	2619	GAS1	ORPHA:93926
HP:0004325	Decreased body weight	2619	GAS1	ORPHA:93924
HP:0004325	Decreased body weight	2619	GAS1	ORPHA:93925
HP:0004325	Decreased body weight	2619	GAS1	ORPHA:220386
HP:0004325	Decreased body weight	84976	DISP1	ORPHA:93926
HP:0004325	Decreased body weight	84976	DISP1	ORPHA:93924
HP:0004325	Decreased body weight	84976	DISP1	ORPHA:93925
HP:0004325	Decreased body weight	84976	DISP1	ORPHA:220386
HP:0004325	Decreased body weight	2736	GLI2	ORPHA:93926
HP:0004325	Decreased body weight	2736	GLI2	ORPHA:93924
HP:0004325	Decreased body weight	2736	GLI2	ORPHA:93925
HP:0004325	Decreased body weight	2736	GLI2	ORPHA:220386
HP:0004325	Decreased body weight	8928	FOXH1	ORPHA:93926
HP:0004325	Decreased body weight	8928	FOXH1	ORPHA:93924
HP:0004325	Decreased body weight	8928	FOXH1	ORPHA:93925
HP:0004325	Decreased body weight	8928	FOXH1	ORPHA:220386
HP:0004325	Decreased body weight	6997	CRIPTO	ORPHA:93926
HP:0004325	Decreased body weight	6997	CRIPTO	ORPHA:93924
HP:0004325	Decreased body weight	6997	CRIPTO	ORPHA:93925
HP:0004325	Decreased body weight	6997	CRIPTO	ORPHA:220386
HP:0004325	Decreased body weight	5727	PTCH1	ORPHA:93926
HP:0004325	Decreased body weight	5727	PTCH1	ORPHA:93924
HP:0004325	Decreased body weight	5727	PTCH1	ORPHA:93925
HP:0004325	Decreased body weight	5727	PTCH1	ORPHA:220386
HP:0004325	Decreased body weight	50937	CDON	ORPHA:93926
HP:0004325	Decreased body weight	50937	CDON	ORPHA:93924
HP:0004325	Decreased body weight	50937	CDON	ORPHA:93925
HP:0004325	Decreased body weight	50937	CDON	ORPHA:95496
HP:0004325	Decreased body weight	50937	CDON	ORPHA:220386
HP:0004325	Decreased body weight	10125	RASGRP1	OMIM:618534
HP:0004325	Decreased body weight	2260	FGFR1	ORPHA:93924
HP:0004325	Decreased body weight	2260	FGFR1	OMIM:166250
HP:0004325	Decreased body weight	2260	FGFR1	ORPHA:220386
HP:0004325	Decreased body weight	23007	PLCH1	ORPHA:93925
HP:0004325	Decreased body weight	10735	STAG2	ORPHA:93925
HP:0004325	Decreased body weight	10735	STAG2	OMIM:301022
HP:0004325	Decreased body weight	10735	STAG2	ORPHA:220386
HP:0004325	Decreased body weight	89910	UBE3B	ORPHA:2707
HP:0004325	Decreased body weight	89910	UBE3B	OMIM:244450
HP:0004325	Decreased body weight	4645	MYO5B	OMIM:619868
HP:0004325	Decreased body weight	4929	NR4A2	ORPHA:1617
HP:0004325	Decreased body weight	10716	TBR1	ORPHA:1617
HP:0004325	Decreased body weight	26040	SETBP1	OMIM:269150
HP:0004325	Decreased body weight	26834	RNU4-2	OMIM:620851
HP:0004325	Decreased body weight	4247	MGAT2	OMIM:212066
HP:0004325	Decreased body weight	4247	MGAT2	ORPHA:79329
HP:0004325	Decreased body weight	5373	PMM2	OMIM:212065
HP:0004325	Decreased body weight	5373	PMM2	ORPHA:79318
HP:0004325	Decreased body weight	63901	FAM111A	OMIM:602361
HP:0004325	Decreased body weight	26154	ABCA12	OMIM:242500
HP:0004325	Decreased body weight	26154	ABCA12	ORPHA:79394
HP:0004325	Decreased body weight	11285	B4GALT7	OMIM:130070
HP:0004325	Decreased body weight	1187	CLCNKA	OMIM:613090
HP:0004325	Decreased body weight	1187	CLCNKA	ORPHA:89938
HP:0004325	Decreased body weight	1188	CLCNKB	OMIM:613090
HP:0004325	Decreased body weight	1188	CLCNKB	ORPHA:358
HP:0004325	Decreased body weight	1188	CLCNKB	ORPHA:89938
HP:0004325	Decreased body weight	23126	POGZ	OMIM:616364
HP:0004325	Decreased body weight	120227	CYP2R1	ORPHA:289157
HP:0004325	Decreased body weight	120227	CYP2R1	OMIM:600081
HP:0004325	Decreased body weight	4261	CIITA	OMIM:209920
HP:0004325	Decreased body weight	4261	CIITA	ORPHA:572
HP:0004325	Decreased body weight	5604	MAP2K1	OMIM:615279
HP:0004325	Decreased body weight	92609	TIMM50	OMIM:617698
HP:0004325	Decreased body weight	92609	TIMM50	ORPHA:505216
HP:0004325	Decreased body weight	51692	CPSF3	OMIM:619876
HP:0004325	Decreased body weight	5590	PRKCZ	ORPHA:1606
HP:0004325	Decreased body weight	2563	GABRD	ORPHA:1606
HP:0004325	Decreased body weight	23013	SPEN	ORPHA:1606
HP:0004325	Decreased body weight	8510	MMP23B	ORPHA:1606
HP:0004325	Decreased body weight	7798	LUZP1	ORPHA:1606
HP:0004325	Decreased body weight	6497	SKI	ORPHA:1606
HP:0004325	Decreased body weight	6497	SKI	ORPHA:2462
HP:0004325	Decreased body weight	10630	PDPN	ORPHA:1606
HP:0004325	Decreased body weight	10277	UBE4B	ORPHA:1606
HP:0004325	Decreased body weight	8514	KCNAB2	ORPHA:1606
HP:0004325	Decreased body weight	473	RERE	ORPHA:1606
HP:0004325	Decreased body weight	63976	PRDM16	ORPHA:1606
HP:0004325	Decreased body weight	54897	CASZ1	ORPHA:1606
HP:0004325	Decreased body weight	1859	DYRK1A	ORPHA:464311
HP:0004325	Decreased body weight	2517	FUCA1	ORPHA:349
HP:0004325	Decreased body weight	2517	FUCA1	OMIM:230000
HP:0004325	Decreased body weight	472	ATM	ORPHA:100
HP:0004325	Decreased body weight	472	ATM	OMIM:208900
HP:0004325	Decreased body weight	3507	IGHM	OMIM:601495
HP:0004325	Decreased body weight	3507	IGHM	ORPHA:33110
HP:0004325	Decreased body weight	6804	STX1A	ORPHA:586
HP:0004325	Decreased body weight	2947	GSTM3	ORPHA:586
HP:0004325	Decreased body weight	2729	GCLC	ORPHA:586
HP:0004325	Decreased body weight	1084	CEACAM3	ORPHA:586
HP:0004325	Decreased body weight	6556	SLC11A1	ORPHA:586
HP:0004325	Decreased body weight	51164	DCTN4	ORPHA:586
HP:0004325	Decreased body weight	3783	KCNN4	ORPHA:586
HP:0004325	Decreased body weight	4282	MIF	ORPHA:586
HP:0004325	Decreased body weight	1909	EDNRA	ORPHA:586
HP:0004325	Decreased body weight	6550	SLC9A3	ORPHA:586
HP:0004325	Decreased body weight	3162	HMOX1	ORPHA:586
HP:0004325	Decreased body weight	115019	SLC26A9	ORPHA:586
HP:0004325	Decreased body weight	3077	HFE	ORPHA:586
HP:0004325	Decreased body weight	11254	SLC6A14	ORPHA:586
HP:0004325	Decreased body weight	5265	SERPINA1	ORPHA:586
HP:0004325	Decreased body weight	22802	CLCA4	ORPHA:586
HP:0004325	Decreased body weight	4680	CEACAM6	ORPHA:586
HP:0004325	Decreased body weight	57169	ZNFX1	OMIM:619644
HP:0004325	Decreased body weight	2232	FDXR	ORPHA:543470
HP:0004325	Decreased body weight	11311	VPS45	OMIM:615285
HP:0004325	Decreased body weight	113179	ADAT3	OMIM:615286
HP:0004325	Decreased body weight	113179	ADAT3	ORPHA:363528
HP:0004325	Decreased body weight	50485	SMARCAL1	ORPHA:1830
HP:0004325	Decreased body weight	4285	MIPEP	OMIM:617228
HP:0004325	Decreased body weight	6901	TAFAZZIN	OMIM:302060
HP:0004325	Decreased body weight	90	ACVR1	ORPHA:337
HP:0004325	Decreased body weight	4351	MPI	OMIM:602579
HP:0004325	Decreased body weight	4351	MPI	ORPHA:79319
HP:0004325	Decreased body weight	5354	PLP1	OMIM:312080
HP:0004325	Decreased body weight	5354	PLP1	ORPHA:280210
HP:0004325	Decreased body weight	6603	SMARCD2	OMIM:617475
HP:0004325	Decreased body weight	111	ADCY5	OMIM:619651
HP:0004325	Decreased body weight	125988	MICOS13	OMIM:618329
HP:0004325	Decreased body weight	8565	YARS1	OMIM:619418
HP:0004325	Decreased body weight	54148	MRPL39	OMIM:620646
HP:0004325	Decreased body weight	4087	SMAD2	OMIM:619657
HP:0004325	Decreased body weight	1585	CYP11B2	OMIM:610600
HP:0004325	Decreased body weight	1585	CYP11B2	OMIM:203400
HP:0004325	Decreased body weight	1585	CYP11B2	ORPHA:556030
HP:0004325	Decreased body weight	4733	DRG1	OMIM:620641
HP:0004325	Decreased body weight	2184	FAH	OMIM:276700
HP:0004325	Decreased body weight	5836	PYGL	ORPHA:369
HP:0004325	Decreased body weight	56246	MRAP	ORPHA:361
HP:0004325	Decreased body weight	6770	STAR	ORPHA:361
HP:0004325	Decreased body weight	4158	MC2R	ORPHA:361
HP:0004325	Decreased body weight	4158	MC2R	OMIM:202200
HP:0004325	Decreased body weight	23530	NNT	ORPHA:361
HP:0004325	Decreased body weight	23530	NNT	OMIM:614736
HP:0004325	Decreased body weight	10587	TXNRD2	ORPHA:361
HP:0004325	Decreased body weight	91252	SLC39A13	ORPHA:157965
HP:0004325	Decreased body weight	404672	GTF2H5	OMIM:616395
HP:0004325	Decreased body weight	25970	SH2B1	ORPHA:261197
HP:0004325	Decreased body weight	9742	IFT140	OMIM:266920
HP:0004325	Decreased body weight	205327	C2orf69	OMIM:619423
HP:0004325	Decreased body weight	171546	SPTSSA	OMIM:620416
HP:0004325	Decreased body weight	171546	SPTSSA	OMIM:620417
HP:0004325	Decreased body weight	27429	HTRA2	OMIM:617248
HP:0004325	Decreased body weight	6559	SLC12A3	ORPHA:358
HP:0004325	Decreased body weight	6559	SLC12A3	OMIM:263800
HP:0004325	Decreased body weight	389827	MYMK	OMIM:254940
HP:0004325	Decreased body weight	291	SLC25A4	ORPHA:254892
HP:0004325	Decreased body weight	5428	POLG	ORPHA:254892
HP:0004325	Decreased body weight	5428	POLG	OMIM:203700
HP:0004325	Decreased body weight	56652	TWNK	ORPHA:254892
HP:0004325	Decreased body weight	11232	POLG2	ORPHA:254892
HP:0004325	Decreased body weight	11232	POLG2	OMIM:610131
HP:0004325	Decreased body weight	50484	RRM2B	ORPHA:254892
HP:0004325	Decreased body weight	50484	RRM2B	OMIM:612075
HP:0004325	Decreased body weight	2074	ERCC6	OMIM:133540
HP:0004325	Decreased body weight	2074	ERCC6	ORPHA:90321
HP:0004325	Decreased body weight	2074	ERCC6	OMIM:214150
HP:0004325	Decreased body weight	4625	MYH7	ORPHA:324604
HP:0004325	Decreased body weight	7273	TTN	ORPHA:324604
HP:0004325	Decreased body weight	9488	PIGB	OMIM:618580
HP:0004325	Decreased body weight	4558	MT-TF	ORPHA:550
HP:0004325	Decreased body weight	4572	MT-TQ	ORPHA:550
HP:0004325	Decreased body weight	4512	MT-CO1	ORPHA:550
HP:0004325	Decreased body weight	4513	MT-CO2	ORPHA:550
HP:0004325	Decreased body weight	4514	MT-CO3	ORPHA:550
HP:0004325	Decreased body weight	4578	MT-TW	ORPHA:550
HP:0004325	Decreased body weight	4578	MT-TW	ORPHA:255210
HP:0004325	Decreased body weight	4540	MT-ND5	ORPHA:550
HP:0004325	Decreased body weight	4540	MT-ND5	ORPHA:255210
HP:0004325	Decreased body weight	4541	MT-ND6	ORPHA:550
HP:0004325	Decreased body weight	4541	MT-ND6	ORPHA:255210
HP:0004325	Decreased body weight	4535	MT-ND1	ORPHA:550
HP:0004325	Decreased body weight	4535	MT-ND1	ORPHA:2609
HP:0004325	Decreased body weight	4535	MT-ND1	ORPHA:255210
HP:0004325	Decreased body weight	4538	MT-ND4	ORPHA:550
HP:0004325	Decreased body weight	4538	MT-ND4	ORPHA:255210
HP:0004325	Decreased body weight	4567	MT-TL1	ORPHA:550
HP:0004325	Decreased body weight	4567	MT-TL1	ORPHA:255210
HP:0004325	Decreased body weight	4567	MT-TL1	ORPHA:324525
HP:0004325	Decreased body weight	4574	MT-TS1	ORPHA:550
HP:0004325	Decreased body weight	4574	MT-TS1	OMIM:220110
HP:0004325	Decreased body weight	4575	MT-TS2	ORPHA:550
HP:0004325	Decreased body weight	4564	MT-TH	ORPHA:550
HP:0004325	Decreased body weight	1291	COL6A1	OMIM:254090
HP:0004325	Decreased body weight	10564	ARFGEF2	OMIM:608097
HP:0004325	Decreased body weight	2495	FTH1	OMIM:620669
HP:0004325	Decreased body weight	92335	STRADA	ORPHA:500533
HP:0004325	Decreased body weight	3659	IRF1	OMIM:620668
HP:0004325	Decreased body weight	51259	TMEM216	OMIM:608091
HP:0004325	Decreased body weight	51259	TMEM216	ORPHA:2754
HP:0004325	Decreased body weight	9526	MPDU1	OMIM:609180
HP:0004325	Decreased body weight	8737	RIPK1	OMIM:618108
HP:0004325	Decreased body weight	253738	EBF3	ORPHA:96148
HP:0004325	Decreased body weight	79813	EHMT1	ORPHA:96147
HP:0004325	Decreased body weight	79813	EHMT1	ORPHA:261652
HP:0004325	Decreased body weight	959	CD40LG	OMIM:308230
HP:0004325	Decreased body weight	55630	SLC39A4	ORPHA:37
HP:0004325	Decreased body weight	55630	SLC39A4	OMIM:201100
HP:0004325	Decreased body weight	10165	SLC25A13	OMIM:605814
HP:0004325	Decreased body weight	8540	AGPS	OMIM:600121
HP:0004325	Decreased body weight	5896	RAG1	OMIM:601457
HP:0004325	Decreased body weight	5896	RAG1	ORPHA:331206
HP:0004325	Decreased body weight	5896	RAG1	OMIM:603554
HP:0004325	Decreased body weight	5896	RAG1	ORPHA:39041
HP:0004325	Decreased body weight	5897	RAG2	OMIM:601457
HP:0004325	Decreased body weight	5897	RAG2	ORPHA:331206
HP:0004325	Decreased body weight	5897	RAG2	OMIM:603554
HP:0004325	Decreased body weight	5897	RAG2	ORPHA:39041
HP:0004325	Decreased body weight	2972	BRF1	ORPHA:444072
HP:0004325	Decreased body weight	3712	IVD	ORPHA:33
HP:0004325	Decreased body weight	29887	SNX10	OMIM:615085
HP:0004325	Decreased body weight	23114	NFASC	OMIM:618356
HP:0004325	Decreased body weight	6492	SIM1	ORPHA:398079
HP:0004325	Decreased body weight	112939	NACC1	ORPHA:500545
HP:0004325	Decreased body weight	112939	NACC1	OMIM:617393
HP:0004325	Decreased body weight	4952	OCRL	ORPHA:534
HP:0004325	Decreased body weight	4952	OCRL	OMIM:309000
HP:0004325	Decreased body weight	3767	KCNJ11	ORPHA:99885
HP:0004325	Decreased body weight	3767	KCNJ11	ORPHA:99886
HP:0004325	Decreased body weight	6774	STAT3	ORPHA:99885
HP:0004325	Decreased body weight	2645	GCK	ORPHA:99885
HP:0004325	Decreased body weight	6833	ABCC8	ORPHA:99885
HP:0004325	Decreased body weight	6833	ABCC8	ORPHA:99886
HP:0004325	Decreased body weight	3630	INS	ORPHA:99885
HP:0004325	Decreased body weight	346171	ZFP57	ORPHA:99886
HP:0004325	Decreased body weight	57061	HYMAI	ORPHA:99886
HP:0004325	Decreased body weight	5325	PLAGL1	ORPHA:99886
HP:0004325	Decreased body weight	3417	IDH1	ORPHA:99646
HP:0004325	Decreased body weight	427	ASAH1	ORPHA:333
HP:0004325	Decreased body weight	427	ASAH1	OMIM:228000
HP:0004325	Decreased body weight	8625	RFXANK	ORPHA:572
HP:0004325	Decreased body weight	8625	RFXANK	OMIM:620815
HP:0004325	Decreased body weight	3039	HBA1	ORPHA:98791
HP:0004325	Decreased body weight	3040	HBA2	ORPHA:98791
HP:0004325	Decreased body weight	3861	KRT14	ORPHA:89838
HP:0004325	Decreased body weight	3861	KRT14	ORPHA:79396
HP:0004325	Decreased body weight	6777	STAT5B	OMIM:245590
HP:0004325	Decreased body weight	537	ATP6AP1	OMIM:300972
HP:0004325	Decreased body weight	4998	ORC1	OMIM:224690
HP:0004325	Decreased body weight	4998	ORC1	ORPHA:2554
HP:0004325	Decreased body weight	7922	SLC39A7	OMIM:619693
HP:0004325	Decreased body weight	7922	SLC39A7	ORPHA:33110
HP:0004325	Decreased body weight	6601	SMARCC2	OMIM:618362
HP:0004325	Decreased body weight	7468	NSD2	OMIM:619695
HP:0004325	Decreased body weight	7468	NSD2	OMIM:194190
HP:0004325	Decreased body weight	7468	NSD2	ORPHA:280
HP:0004325	Decreased body weight	6718	AKR1D1	OMIM:235555
HP:0004325	Decreased body weight	6718	AKR1D1	ORPHA:79303
HP:0004325	Decreased body weight	54551	MAGEL2	ORPHA:398069
HP:0004325	Decreased body weight	54551	MAGEL2	ORPHA:98754
HP:0004325	Decreased body weight	54551	MAGEL2	ORPHA:177904
HP:0004325	Decreased body weight	54551	MAGEL2	ORPHA:177901
HP:0004325	Decreased body weight	3054	HCFC1	OMIM:309541
HP:0004325	Decreased body weight	201163	FLCN	OMIM:610883
HP:0004325	Decreased body weight	2019	EN1	OMIM:619218
HP:0004325	Decreased body weight	549	AUH	OMIM:250950
HP:0004325	Decreased body weight	549	AUH	ORPHA:67046
HP:0004325	Decreased body weight	1312	COMT	ORPHA:567
HP:0004325	Decreased body weight	221037	JMJD1C	ORPHA:567
HP:0004325	Decreased body weight	2812	GP1BB	ORPHA:567
HP:0004325	Decreased body weight	6239	RREB1	ORPHA:567
HP:0004325	Decreased body weight	6899	TBX1	ORPHA:567
HP:0004325	Decreased body weight	7290	HIRA	ORPHA:567
HP:0004325	Decreased body weight	9632	SEC24C	ORPHA:567
HP:0004325	Decreased body weight	7353	UFD1	ORPHA:567
HP:0004325	Decreased body weight	421	ARVCF	ORPHA:567
HP:0004325	Decreased body weight	3291	HSD11B2	ORPHA:320
HP:0004325	Decreased body weight	3291	HSD11B2	OMIM:218030
HP:0004325	Decreased body weight	4547	MTTP	ORPHA:14
HP:0004325	Decreased body weight	6045	RNF2	OMIM:619460
HP:0004325	Decreased body weight	51102	MECR	OMIM:617282
HP:0004325	Decreased body weight	51102	MECR	ORPHA:508093
HP:0004325	Decreased body weight	6557	SLC12A1	OMIM:601678
HP:0004325	Decreased body weight	7809	BSND	OMIM:602522
HP:0004325	Decreased body weight	7809	BSND	ORPHA:89938
HP:0004325	Decreased body weight	63931	MRPS14	OMIM:618378
HP:0004325	Decreased body weight	11342	RNF13	OMIM:618379
HP:0004325	Decreased body weight	11342	RNF13	ORPHA:544503
HP:0004325	Decreased body weight	127833	SYT2	OMIM:619461
HP:0004325	Decreased body weight	8802	SUCLG1	ORPHA:17
HP:0004325	Decreased body weight	8802	SUCLG1	OMIM:245400
HP:0004325	Decreased body weight	146206	CARMIL2	OMIM:618131
HP:0004325	Decreased body weight	3188	HNRNPH2	OMIM:300986
HP:0004325	Decreased body weight	84705	GTPBP3	OMIM:616198
HP:0004325	Decreased body weight	84705	GTPBP3	ORPHA:444013
HP:0004325	Decreased body weight	9971	NR1H4	OMIM:617049
HP:0004325	Decreased body weight	5332	PLCB4	OMIM:620458
HP:0004325	Decreased body weight	1974	EIF4A2	OMIM:620455
HP:0004325	Decreased body weight	4548	MTR	OMIM:250940
HP:0004325	Decreased body weight	65250	CPLANE1	OMIM:277170
HP:0004325	Decreased body weight	65250	CPLANE1	ORPHA:2754
HP:0004325	Decreased body weight	134218	DNAJC21	OMIM:617052
HP:0004325	Decreased body weight	134218	DNAJC21	ORPHA:811
HP:0004325	Decreased body weight	134218	DNAJC21	OMIM:260400
HP:0004325	Decreased body weight	10526	IPO8	OMIM:619472
HP:0004325	Decreased body weight	54539	NDUFB11	OMIM:300952
HP:0004325	Decreased body weight	54539	NDUFB11	ORPHA:2556
HP:0004325	Decreased body weight	54539	NDUFB11	ORPHA:2609
HP:0004325	Decreased body weight	435	ASL	OMIM:207900
HP:0004325	Decreased body weight	8452	CUL3	OMIM:619239
HP:0004325	Decreased body weight	162417	NAGS	OMIM:237310
HP:0004325	Decreased body weight	162417	NAGS	ORPHA:927
HP:0004325	Decreased body weight	2887	GRB10	ORPHA:96182
HP:0004325	Decreased body weight	10682	EBP	OMIM:300960
HP:0004325	Decreased body weight	10682	EBP	ORPHA:401973
HP:0004325	Decreased body weight	10682	EBP	OMIM:302960
HP:0004325	Decreased body weight	1457	CSNK2A1	OMIM:617062
HP:0004325	Decreased body weight	100147744	RNU7-1	OMIM:619487
HP:0004325	Decreased body weight	374879	ZNF699	OMIM:619488
HP:0004325	Decreased body weight	200931	SLC51A	OMIM:619484
HP:0004325	Decreased body weight	9373	PLAA	ORPHA:521426
HP:0004325	Decreased body weight	9373	PLAA	OMIM:617527
HP:0004325	Decreased body weight	2998	GYS2	ORPHA:2089
HP:0004325	Decreased body weight	57038	RARS2	OMIM:611523
HP:0004325	Decreased body weight	6514	SLC2A2	ORPHA:2088
HP:0004325	Decreased body weight	6514	SLC2A2	OMIM:227810
HP:0004325	Decreased body weight	10551	AGR2	OMIM:620233
HP:0004325	Decreased body weight	3516	RBPJ	ORPHA:974
HP:0004325	Decreased body weight	4851	NOTCH1	ORPHA:974
HP:0004325	Decreased body weight	57514	ARHGAP31	ORPHA:974
HP:0004325	Decreased body weight	57572	DOCK6	ORPHA:974
HP:0004325	Decreased body weight	285203	EOGT	ORPHA:974
HP:0004325	Decreased body weight	54567	DLL4	ORPHA:974
HP:0004325	Decreased body weight	60386	SLC25A19	OMIM:607196
HP:0004325	Decreased body weight	55670	PEX26	ORPHA:772
HP:0004325	Decreased body weight	55670	PEX26	ORPHA:912
HP:0004325	Decreased body weight	5828	PEX2	ORPHA:772
HP:0004325	Decreased body weight	5828	PEX2	OMIM:614866
HP:0004325	Decreased body weight	5828	PEX2	ORPHA:912
HP:0004325	Decreased body weight	8504	PEX3	ORPHA:772
HP:0004325	Decreased body weight	8504	PEX3	ORPHA:912
HP:0004325	Decreased body weight	9409	PEX16	ORPHA:772
HP:0004325	Decreased body weight	9409	PEX16	OMIM:614877
HP:0004325	Decreased body weight	9409	PEX16	ORPHA:912
HP:0004325	Decreased body weight	5190	PEX6	ORPHA:772
HP:0004325	Decreased body weight	5190	PEX6	ORPHA:912
HP:0004325	Decreased body weight	8799	PEX11B	ORPHA:772
HP:0004325	Decreased body weight	8799	PEX11B	ORPHA:912
HP:0004325	Decreased body weight	5830	PEX5	ORPHA:772
HP:0004325	Decreased body weight	5830	PEX5	OMIM:214110
HP:0004325	Decreased body weight	5830	PEX5	ORPHA:912
HP:0004325	Decreased body weight	5189	PEX1	ORPHA:772
HP:0004325	Decreased body weight	5189	PEX1	OMIM:214100
HP:0004325	Decreased body weight	5189	PEX1	ORPHA:912
HP:0004325	Decreased body weight	5193	PEX12	ORPHA:772
HP:0004325	Decreased body weight	5193	PEX12	ORPHA:912
HP:0004325	Decreased body weight	5193	PEX12	OMIM:266510
HP:0004325	Decreased body weight	5194	PEX13	ORPHA:772
HP:0004325	Decreased body weight	5194	PEX13	OMIM:614883
HP:0004325	Decreased body weight	5194	PEX13	ORPHA:912
HP:0004325	Decreased body weight	5195	PEX14	ORPHA:772
HP:0004325	Decreased body weight	5195	PEX14	ORPHA:912
HP:0004325	Decreased body weight	5192	PEX10	ORPHA:772
HP:0004325	Decreased body weight	5192	PEX10	ORPHA:912
HP:0004325	Decreased body weight	201595	STT3B	ORPHA:370924
HP:0004325	Decreased body weight	201595	STT3B	OMIM:615597
HP:0004325	Decreased body weight	6748	SSR4	ORPHA:370927
HP:0004325	Decreased body weight	6748	SSR4	OMIM:300934
HP:0004325	Decreased body weight	5317	PKP1	ORPHA:158668
HP:0004325	Decreased body weight	7482	WNT2B	OMIM:618168
HP:0004325	Decreased body weight	63899	NSUN3	OMIM:619012
HP:0004325	Decreased body weight	203190	LGI3	OMIM:620007
HP:0004325	Decreased body weight	284058	KANSL1	OMIM:610443
HP:0004325	Decreased body weight	875	CBS	OMIM:236200
HP:0004325	Decreased body weight	84081	NSRP1	OMIM:620001
HP:0004325	Decreased body weight	5468	PPARG	ORPHA:528
HP:0004325	Decreased body weight	10555	AGPAT2	ORPHA:528
HP:0004325	Decreased body weight	284119	CAVIN1	ORPHA:528
HP:0004325	Decreased body weight	284119	CAVIN1	OMIM:613327
HP:0004325	Decreased body weight	26580	BSCL2	ORPHA:528
HP:0004325	Decreased body weight	2353	FOS	ORPHA:528
HP:0004325	Decreased body weight	10079	ATP9A	OMIM:620242
HP:0004325	Decreased body weight	2801	GOLGA2	OMIM:620240
HP:0004325	Decreased body weight	3030	HADHA	ORPHA:5
HP:0004325	Decreased body weight	3030	HADHA	OMIM:609015
HP:0004325	Decreased body weight	50617	ATP6V0A4	OMIM:602722
HP:0004325	Decreased body weight	116150	NUS1	OMIM:617082
HP:0004325	Decreased body weight	116150	NUS1	ORPHA:442835
HP:0004325	Decreased body weight	118429	ANTXR2	OMIM:228600
HP:0004325	Decreased body weight	118429	ANTXR2	ORPHA:2176
HP:0004325	Decreased body weight	1373	CPS1	OMIM:237300
HP:0004325	Decreased body weight	5696	PSMB8	OMIM:256040
HP:0004325	Decreased body weight	25886	POC1A	OMIM:614813
HP:0004325	Decreased body weight	9898	UBAP2L	OMIM:620494
HP:0004325	Decreased body weight	128	ADH5	OMIM:619151
HP:0004325	Decreased body weight	64374	SIL1	OMIM:248800
HP:0004325	Decreased body weight	6399	TRAPPC2	ORPHA:93284
HP:0004325	Decreased body weight	6535	SLC6A8	OMIM:300352
HP:0004325	Decreased body weight	6309	SC5D	ORPHA:46059
HP:0004325	Decreased body weight	6775	STAT4	ORPHA:85410
HP:0004325	Decreased body weight	3560	IL2RB	ORPHA:85410
HP:0004325	Decreased body weight	3560	IL2RB	OMIM:618495
HP:0004325	Decreased body weight	79722	ANKRD55	ORPHA:85410
HP:0004325	Decreased body weight	26191	PTPN22	ORPHA:85410
HP:0004325	Decreased body weight	919	CD247	ORPHA:85410
HP:0004325	Decreased body weight	3559	IL2RA	ORPHA:85410
HP:0004325	Decreased body weight	5771	PTPN2	ORPHA:85410
HP:0004325	Decreased body weight	5393	EXOSC9	OMIM:618065
HP:0004325	Decreased body weight	5393	EXOSC9	ORPHA:2254
HP:0004325	Decreased body weight	10312	TCIRG1	OMIM:259700
HP:0004325	Decreased body weight	5009	OTC	OMIM:311250
HP:0004325	Decreased body weight	5009	OTC	ORPHA:664
HP:0004325	Decreased body weight	673	BRAF	OMIM:115150
HP:0004325	Decreased body weight	25821	MTO1	OMIM:614702
HP:0004325	Decreased body weight	987	LRBA	OMIM:614700
HP:0004325	Decreased body weight	51343	FZR1	OMIM:620145
HP:0004325	Decreased body weight	51343	FZR1	ORPHA:442835
HP:0004325	Decreased body weight	80232	WDR26	ORPHA:513456
HP:0004325	Decreased body weight	80232	WDR26	OMIM:617616
HP:0004325	Decreased body weight	51506	UFC1	OMIM:618076
HP:0004325	Decreased body weight	63916	ELMO2	ORPHA:3019
HP:0004325	Decreased body weight	79947	DHDDS	OMIM:613861
HP:0004325	Decreased body weight	79947	DHDDS	ORPHA:442835
HP:0004325	Decreased body weight	841	CASP8	OMIM:607271
HP:0004325	Decreased body weight	55788	LMBRD1	OMIM:277380
HP:0004325	Decreased body weight	55788	LMBRD1	ORPHA:79284
HP:0004325	Decreased body weight	80055	PGAP1	OMIM:615802
HP:0004325	Decreased body weight	8456	FOXN1	ORPHA:83471
HP:0004325	Decreased body weight	6662	SOX9	OMIM:114290
HP:0004325	Decreased body weight	6662	SOX9	ORPHA:718
HP:0004325	Decreased body weight	29072	SETD2	OMIM:620157
HP:0004325	Decreased body weight	55780	ERMARD	ORPHA:75857
HP:0004325	Decreased body weight	5979	RET	ORPHA:99803
HP:0004325	Decreased body weight	429	ASCL1	ORPHA:99803
HP:0004325	Decreased body weight	8929	PHOX2B	ORPHA:99803
HP:0004325	Decreased body weight	3242	HPD	OMIM:140350
HP:0004325	Decreased body weight	3242	HPD	ORPHA:2118
HP:0004325	Decreased body weight	10225	CD96	OMIM:211750
HP:0004325	Decreased body weight	771	CA12	OMIM:143860
HP:0004325	Decreased body weight	79631	EFL1	ORPHA:811
HP:0004325	Decreased body weight	79631	EFL1	OMIM:617941
HP:0004325	Decreased body weight	51119	SBDS	ORPHA:811
HP:0004325	Decreased body weight	51119	SBDS	OMIM:260400
HP:0004325	Decreased body weight	3988	LIPA	OMIM:620151
HP:0004325	Decreased body weight	3988	LIPA	OMIM:278000
HP:0004325	Decreased body weight	9382	COG1	ORPHA:263508
HP:0004325	Decreased body weight	6439	SFTPB	OMIM:265120
HP:0004325	Decreased body weight	87178	PNPT1	ORPHA:319514
HP:0004325	Decreased body weight	1738	DLD	ORPHA:2394
HP:0004325	Decreased body weight	4001	LMNB1	OMIM:619179
HP:0004325	Decreased body weight	84876	ORAI1	OMIM:612782
HP:0004325	Decreased body weight	92579	G6PC3	OMIM:612541
HP:0004325	Decreased body weight	55858	TMEM165	OMIM:614727
HP:0004325	Decreased body weight	64087	MCCC2	OMIM:210210
HP:0004325	Decreased body weight	9839	ZEB2	ORPHA:261552
HP:0004325	Decreased body weight	9839	ZEB2	ORPHA:261537
HP:0004325	Decreased body weight	50674	NEUROG3	OMIM:610370
HP:0004325	Decreased body weight	6885	MAP3K7	OMIM:157800
HP:0004325	Decreased body weight	7170	TPM3	OMIM:255310
HP:0004325	Decreased body weight	7170	TPM3	ORPHA:2020
HP:0004325	Decreased body weight	1591	CYP24A1	OMIM:143880
HP:0004325	Decreased body weight	84342	COG8	ORPHA:95428
HP:0004325	Decreased body weight	84342	COG8	OMIM:611182
HP:0004325	Decreased body weight	23545	ATP6V0A2	OMIM:278250
HP:0004325	Decreased body weight	23545	ATP6V0A2	OMIM:219200
HP:0004325	Decreased body weight	23545	ATP6V0A2	ORPHA:2834
HP:0004325	Decreased body weight	23545	ATP6V0A2	ORPHA:357074
HP:0004325	Decreased body weight	84300	UQCC2	OMIM:615824
HP:0004325	Decreased body weight	4598	MVK	OMIM:610377
HP:0004325	Decreased body weight	56922	MCCC1	OMIM:210200
HP:0004325	Decreased body weight	113235	SLC46A1	OMIM:229050
HP:0004325	Decreased body weight	113235	SLC46A1	ORPHA:90045
HP:0004325	Decreased body weight	63894	VIPAS39	OMIM:613404
HP:0004325	Decreased body weight	79053	ALG8	OMIM:608104
HP:0004325	Decreased body weight	79053	ALG8	ORPHA:79325
HP:0004325	Decreased body weight	10815	CPLX1	OMIM:194190
HP:0004325	Decreased body weight	10815	CPLX1	ORPHA:280
HP:0004325	Decreased body weight	1487	CTBP1	OMIM:194190
HP:0004325	Decreased body weight	1487	CTBP1	ORPHA:280
HP:0004325	Decreased body weight	53834	FGFRL1	OMIM:194190
HP:0004325	Decreased body weight	3954	LETM1	OMIM:194190
HP:0004325	Decreased body weight	3954	LETM1	ORPHA:280
HP:0004325	Decreased body weight	84947	SERAC1	OMIM:614739
HP:0004325	Decreased body weight	1798	DPAGT1	ORPHA:86309
HP:0004325	Decreased body weight	6125	RPL5	OMIM:612561
HP:0004325	Decreased body weight	4519	MT-CYB	ORPHA:137675
HP:0004325	Decreased body weight	773	CACNA1A	ORPHA:2131
HP:0004325	Decreased body weight	773	CACNA1A	ORPHA:442835
HP:0004325	Decreased body weight	6507	SLC1A3	ORPHA:2131
HP:0004325	Decreased body weight	477	ATP1A2	ORPHA:2131
HP:0004325	Decreased body weight	477	ATP1A2	ORPHA:442835
HP:0004325	Decreased body weight	478	ATP1A3	ORPHA:2131
HP:0004325	Decreased body weight	478	ATP1A3	ORPHA:442835
HP:0004325	Decreased body weight	90624	LYRM7	OMIM:615838
HP:0004325	Decreased body weight	1650	DDOST	OMIM:614507
HP:0004325	Decreased body weight	1650	DDOST	ORPHA:300536
HP:0004325	Decreased body weight	10056	FARSB	OMIM:613658
HP:0004325	Decreased body weight	128674	PROKR2	ORPHA:95496
HP:0004325	Decreased body weight	89884	LHX4	ORPHA:95496
HP:0004325	Decreased body weight	55717	WDR11	ORPHA:95496
HP:0004325	Decreased body weight	6091	ROBO1	ORPHA:95496
HP:0004325	Decreased body weight	8820	HESX1	ORPHA:95496
HP:0004325	Decreased body weight	23432	GPR161	ORPHA:95496
HP:0004325	Decreased body weight	11128	POLR3A	OMIM:264090
HP:0004325	Decreased body weight	11128	POLR3A	ORPHA:3455
HP:0004325	Decreased body weight	79759	ZNF668	OMIM:620194
HP:0004325	Decreased body weight	1303	COL12A1	ORPHA:536516
HP:0004325	Decreased body weight	182	JAG1	OMIM:118450
HP:0004325	Decreased body weight	9440	MED17	OMIM:613668
HP:0004325	Decreased body weight	5422	POLA1	ORPHA:163976
HP:0004325	Decreased body weight	917	CD3G	OMIM:615607
HP:0004325	Decreased body weight	51128	SAR1B	ORPHA:71
HP:0004325	Decreased body weight	51128	SAR1B	OMIM:246700
HP:0004325	Decreased body weight	55343	SLC35C1	ORPHA:99843
HP:0004325	Decreased body weight	6638	SNRPN	ORPHA:98754
HP:0004325	Decreased body weight	6638	SNRPN	ORPHA:177904
HP:0004325	Decreased body weight	6638	SNRPN	ORPHA:177901
HP:0004325	Decreased body weight	4692	NDN	ORPHA:98754
HP:0004325	Decreased body weight	4692	NDN	ORPHA:177904
HP:0004325	Decreased body weight	4692	NDN	ORPHA:177901
HP:0004325	Decreased body weight	4948	OCA2	ORPHA:98754
HP:0004325	Decreased body weight	4948	OCA2	ORPHA:177904
HP:0004325	Decreased body weight	4948	OCA2	ORPHA:177901
HP:0004325	Decreased body weight	695	BTK	ORPHA:47
HP:0004325	Decreased body weight	8813	DPM1	OMIM:608799
HP:0004325	Decreased body weight	8813	DPM1	ORPHA:79322
HP:0004325	Decreased body weight	1438	CSF2RA	OMIM:300770
HP:0004325	Decreased body weight	9652	SKIC3	OMIM:222470
HP:0004325	Decreased body weight	55275	VPS53	OMIM:615851
HP:0004325	Decreased body weight	445	ASS1	OMIM:215700
HP:0004325	Decreased body weight	915	CD3D	OMIM:615617
HP:0004325	Decreased body weight	6314	ATXN7	ORPHA:94147
HP:0004325	Decreased body weight	171023	ASXL1	OMIM:605039
HP:0004325	Decreased body weight	8694	DGAT1	OMIM:615863
HP:0004325	Decreased body weight	1288	COL4A6	ORPHA:1018
HP:0004325	Decreased body weight	1287	COL4A5	ORPHA:1018
HP:0004325	Decreased body weight	9663	LPIN2	OMIM:609628
HP:0004325	Decreased body weight	9663	LPIN2	ORPHA:77297
HP:0004325	Decreased body weight	91949	COG7	OMIM:608779
HP:0004325	Decreased body weight	91949	COG7	ORPHA:79333
HP:0004325	Decreased body weight	2245	FGD1	OMIM:305400
HP:0004325	Decreased body weight	4688	NCF2	OMIM:233710
HP:0004325	Decreased body weight	6569	SLC34A1	OMIM:616963
HP:0004325	Decreased body weight	132	ADK	OMIM:614300
HP:0004325	Decreased body weight	23394	ADNP	OMIM:615873
HP:0004325	Decreased body weight	4072	EPCAM	OMIM:613217
HP:0004325	Decreased body weight	4072	EPCAM	ORPHA:92050
HP:0004325	Decreased body weight	6948	TCN2	OMIM:275350
HP:0004325	Decreased body weight	79796	ALG9	OMIM:608776
HP:0004325	Decreased body weight	50943	FOXP3	OMIM:304790
HP:0004325	Decreased body weight	3981	LIG4	OMIM:606593
HP:0004325	Decreased body weight	3981	LIG4	ORPHA:235
HP:0004325	Decreased body weight	3981	LIG4	ORPHA:39041
HP:0004325	Decreased body weight	3718	JAK3	OMIM:600802
HP:0004325	Decreased body weight	1806	DPYD	OMIM:274270
HP:0004325	Decreased body weight	54931	TRMT10C	OMIM:616974
HP:0004325	Decreased body weight	4792	NFKBIA	OMIM:612132
HP:0004325	Decreased body weight	4792	NFKBIA	ORPHA:98813
HP:0004325	Decreased body weight	2782	GNB1	OMIM:616973
HP:0004325	Decreased body weight	2782	GNB1	ORPHA:488613
HP:0004325	Decreased body weight	131118	DNAJC19	OMIM:610198
HP:0004325	Decreased body weight	8085	KMT2D	ORPHA:2322
HP:0004325	Decreased body weight	79644	SRD5A3	OMIM:612379
HP:0004325	Decreased body weight	117581	TWIST2	ORPHA:1231
HP:0004325	Decreased body weight	3097	HIVEP2	OMIM:616977
HP:0004325	Decreased body weight	7547	ZIC3	OMIM:306955
HP:0004325	Decreased body weight	7037	TFRC	OMIM:616740
HP:0004325	Decreased body weight	4358	MPV17	OMIM:256810
HP:0004325	Decreased body weight	10616	RBCK1	OMIM:615895
HP:0004325	Decreased body weight	130589	GALM	ORPHA:570422
HP:0004325	Decreased body weight	6868	ADAM17	OMIM:614328
HP:0004325	Decreased body weight	2917	GRM7	OMIM:618922
HP:0004325	Decreased body weight	2917	GRM7	ORPHA:1934
HP:0004325	Decreased body weight	81620	CDT1	ORPHA:2554
HP:0004325	Decreased body weight	81620	CDT1	OMIM:613804
HP:0004325	Decreased body weight	5000	ORC4	ORPHA:2554
HP:0004325	Decreased body weight	5000	ORC4	OMIM:613800
HP:0004325	Decreased body weight	23594	ORC6	ORPHA:2554
HP:0004325	Decreased body weight	23594	ORC6	OMIM:613803
HP:0004325	Decreased body weight	990	CDC6	ORPHA:2554
HP:0004325	Decreased body weight	990	CDC6	OMIM:613805
HP:0004325	Decreased body weight	51053	GMNN	ORPHA:2554
HP:0004325	Decreased body weight	51053	GMNN	OMIM:616835
HP:0004325	Decreased body weight	84693	MCEE	OMIM:251120
HP:0004325	Decreased body weight	1349	COX7B	ORPHA:2556
HP:0004325	Decreased body weight	3052	HCCS	ORPHA:2556
HP:0004325	Decreased body weight	4982	TNFRSF11B	OMIM:239000
HP:0004325	Decreased body weight	25	ABL1	OMIM:617602
HP:0004325	Decreased body weight	57511	COG6	OMIM:614576
HP:0004325	Decreased body weight	25839	COG4	OMIM:613489
HP:0004325	Decreased body weight	26227	PHGDH	ORPHA:79351
HP:0004325	Decreased body weight	3868	KRT16	ORPHA:2309
HP:0004325	Decreased body weight	3872	KRT17	ORPHA:2309
HP:0004325	Decreased body weight	3853	KRT6A	ORPHA:2309
HP:0004325	Decreased body weight	3854	KRT6B	ORPHA:2309
HP:0004325	Decreased body weight	27031	NPHP3	OMIM:604387
HP:0004325	Decreased body weight	326625	MMAB	OMIM:251110
HP:0004325	Decreased body weight	760	CA2	ORPHA:2785
HP:0004325	Decreased body weight	60	ACTB	OMIM:243310
HP:0004325	Decreased body weight	60	ACTB	ORPHA:2995
HP:0004325	Decreased body weight	23476	BRD4	ORPHA:199
HP:0004325	Decreased body weight	9126	SMC3	ORPHA:199
HP:0004325	Decreased body weight	9126	SMC3	OMIM:610759
HP:0004325	Decreased body weight	8243	SMC1A	ORPHA:199
HP:0004325	Decreased body weight	8243	SMC1A	ORPHA:220386
HP:0004325	Decreased body weight	6878	TAF6	ORPHA:199
HP:0004325	Decreased body weight	25836	NIPBL	ORPHA:199
HP:0004325	Decreased body weight	55869	HDAC8	ORPHA:199
HP:0004325	Decreased body weight	5885	RAD21	ORPHA:199
HP:0004325	Decreased body weight	10664	CTCF	ORPHA:363611
HP:0004325	Decreased body weight	10664	CTCF	OMIM:615502
HP:0004325	Decreased body weight	55180	LINS1	OMIM:614340
HP:0004325	Decreased body weight	11222	MRPL3	OMIM:614582
HP:0004325	Decreased body weight	51520	LARS1	OMIM:615438
HP:0004325	Decreased body weight	6476	SI	ORPHA:35122
HP:0004325	Decreased body weight	55617	TASP1	OMIM:618950
HP:0004325	Decreased body weight	6182	MRPL12	OMIM:618951
HP:0004325	Decreased body weight	60528	ELAC2	OMIM:615440
HP:0004325	Decreased body weight	57688	ZSWIM6	OMIM:617865
HP:0004325	Decreased body weight	2893	GRIA4	OMIM:617864
HP:0004325	Decreased body weight	28957	MRPS28	OMIM:618958
HP:0004325	Decreased body weight	50615	IL21R	OMIM:615207
HP:0004325	Decreased body weight	57570	TRMT5	OMIM:616539
HP:0004325	Decreased body weight	3033	HADH	ORPHA:71212
HP:0004325	Decreased body weight	617	BCS1L	OMIM:124000
HP:0004325	Decreased body weight	139285	AMER1	OMIM:300373
HP:0004325	Decreased body weight	54802	TRIT1	OMIM:617873
HP:0004325	Decreased body weight	51081	MRPS7	OMIM:617872
HP:0004325	Decreased body weight	1537	CYC1	OMIM:615453
HP:0004325	Decreased body weight	26503	SLC17A5	OMIM:269920
HP:0004325	Decreased body weight	4724	NDUFS4	OMIM:252010
HP:0004325	Decreased body weight	4724	NDUFS4	ORPHA:2609
HP:0004325	Decreased body weight	133686	NADK2	ORPHA:431361
HP:0004325	Decreased body weight	133686	NADK2	OMIM:616034
HP:0004325	Decreased body weight	3458	IFNG	OMIM:618963
HP:0004325	Decreased body weight	5449	POU1F1	OMIM:613038
HP:0004325	Decreased body weight	4621	MYH3	ORPHA:2990
HP:0004325	Decreased body weight	4621	MYH3	OMIM:193700
HP:0004325	Decreased body weight	4621	MYH3	ORPHA:2053
HP:0004325	Decreased body weight	1146	CHRNG	ORPHA:2990
HP:0004325	Decreased body weight	26123	TCTN3	ORPHA:2753
HP:0004325	Decreased body weight	26123	TCTN3	ORPHA:2754
HP:0004325	Decreased body weight	71	ACTG1	ORPHA:2995
HP:0004325	Decreased body weight	79583	TMEM231	ORPHA:2754
HP:0004325	Decreased body weight	10210	TOPORS	ORPHA:2754
HP:0004325	Decreased body weight	9851	KIAA0753	ORPHA:2754
HP:0004325	Decreased body weight	5147	PDE6D	ORPHA:2754
HP:0004325	Decreased body weight	317662	FAM149B1	ORPHA:2754
HP:0004325	Decreased body weight	374654	KIF7	ORPHA:2754
HP:0004325	Decreased body weight	374654	KIF7	OMIM:200990
HP:0004325	Decreased body weight	1832	DSP	OMIM:605676
HP:0004325	Decreased body weight	5699	PSMB10	OMIM:620807
HP:0004325	Decreased body weight	672	BRCA1	OMIM:617883
HP:0004325	Decreased body weight	4153	MBL2	OMIM:614372
HP:0004325	Decreased body weight	523	ATP6V1A	OMIM:617403
HP:0004325	Decreased body weight	523	ATP6V1A	ORPHA:442835
HP:0004325	Decreased body weight	523	ATP6V1A	ORPHA:357074
HP:0004325	Decreased body weight	242	ALOX12B	ORPHA:79394
HP:0004325	Decreased body weight	204219	CERS3	ORPHA:79394
HP:0004325	Decreased body weight	6820	SULT2B1	ORPHA:79394
HP:0004325	Decreased body weight	285848	PNPLA1	ORPHA:79394
HP:0004325	Decreased body weight	59344	ALOXE3	ORPHA:79394
HP:0004325	Decreased body weight	348938	NIPAL4	ORPHA:79394
HP:0004325	Decreased body weight	7051	TGM1	ORPHA:79394
HP:0004325	Decreased body weight	121214	SDR9C7	ORPHA:79394
HP:0004325	Decreased body weight	6929	TCF3	OMIM:619824
HP:0004325	Decreased body weight	6929	TCF3	ORPHA:33110
HP:0004325	Decreased body weight	3852	KRT5	ORPHA:79396
HP:0004325	Decreased body weight	2746	GLUD1	OMIM:606762
HP:0004325	Decreased body weight	100	ADA	ORPHA:277
HP:0004325	Decreased body weight	100	ADA	ORPHA:39041
HP:0004325	Decreased body weight	100	ADA	OMIM:102700
HP:0004325	Decreased body weight	3561	IL2RG	ORPHA:276
HP:0004325	Decreased body weight	3561	IL2RG	OMIM:300400
HP:0004325	Decreased body weight	3561	IL2RG	ORPHA:39041
HP:0004325	Decreased body weight	1497	CTNS	OMIM:219800
HP:0004325	Decreased body weight	1497	CTNS	ORPHA:411629
HP:0004325	Decreased body weight	1497	CTNS	ORPHA:411634
HP:0004325	Decreased body weight	8036	SHOC2	OMIM:607721
HP:0004325	Decreased body weight	64421	DCLRE1C	ORPHA:275
HP:0004325	Decreased body weight	64421	DCLRE1C	OMIM:603554
HP:0004325	Decreased body weight	64421	DCLRE1C	OMIM:602450
HP:0004325	Decreased body weight	64421	DCLRE1C	ORPHA:39041
HP:0004325	Decreased body weight	4791	NFKB2	ORPHA:293978
HP:0004325	Decreased body weight	25915	NDUFAF3	ORPHA:2609
HP:0004325	Decreased body weight	51103	NDUFAF1	ORPHA:2609
HP:0004325	Decreased body weight	51103	NDUFAF1	OMIM:618234
HP:0004325	Decreased body weight	91942	NDUFAF2	ORPHA:2609
HP:0004325	Decreased body weight	51300	TIMMDC1	ORPHA:2609
HP:0004325	Decreased body weight	51300	TIMMDC1	OMIM:618251
HP:0004325	Decreased body weight	4716	NDUFB10	ORPHA:2609
HP:0004325	Decreased body weight	4723	NDUFV1	ORPHA:2609
HP:0004325	Decreased body weight	55572	FOXRED1	ORPHA:2609
HP:0004325	Decreased body weight	284184	NDUFAF8	ORPHA:2609
HP:0004325	Decreased body weight	55863	TMEM126B	ORPHA:2609
HP:0004325	Decreased body weight	55863	TMEM126B	OMIM:618250
HP:0004325	Decreased body weight	4537	MT-ND3	ORPHA:2609
HP:0004325	Decreased body weight	4537	MT-ND3	ORPHA:255210
HP:0004325	Decreased body weight	4729	NDUFV2	ORPHA:2609
HP:0004325	Decreased body weight	4729	NDUFV2	OMIM:618229
HP:0004325	Decreased body weight	4694	NDUFA1	ORPHA:2609
HP:0004325	Decreased body weight	4720	NDUFS2	ORPHA:2609
HP:0004325	Decreased body weight	4720	NDUFS2	OMIM:618228
HP:0004325	Decreased body weight	4726	NDUFS6	ORPHA:2609
HP:0004325	Decreased body weight	4728	NDUFS8	ORPHA:2609
HP:0004325	Decreased body weight	4722	NDUFS3	ORPHA:2609
HP:0004325	Decreased body weight	79133	NDUFAF5	ORPHA:2609
HP:0004325	Decreased body weight	79133	NDUFAF5	OMIM:618238
HP:0004325	Decreased body weight	126328	NDUFA11	ORPHA:2609
HP:0004325	Decreased body weight	4709	NDUFB3	ORPHA:2609
HP:0004325	Decreased body weight	4709	NDUFB3	OMIM:618246
HP:0004325	Decreased body weight	80224	NUBPL	ORPHA:2609
HP:0004325	Decreased body weight	29078	NDUFAF4	ORPHA:2609
HP:0004325	Decreased body weight	29078	NDUFAF4	OMIM:618237
HP:0004325	Decreased body weight	374291	NDUFS7	ORPHA:2609
HP:0004325	Decreased body weight	4700	NDUFA6	ORPHA:2609
HP:0004325	Decreased body weight	4536	MT-ND2	ORPHA:2609
HP:0004325	Decreased body weight	4536	MT-ND2	ORPHA:255210
HP:0004325	Decreased body weight	4719	NDUFS1	ORPHA:2609
HP:0004325	Decreased body weight	4719	NDUFS1	OMIM:618226
HP:0004325	Decreased body weight	4715	NDUFB9	ORPHA:2609
HP:0004325	Decreased body weight	3551	IKBKB	OMIM:615592
HP:0004325	Decreased body weight	10617	STAMBP	OMIM:614261
HP:0004325	Decreased body weight	8367	H4C5	OMIM:619950
HP:0004325	Decreased body weight	229	ALDOB	OMIM:229600
HP:0004325	Decreased body weight	57128	LYRM4	OMIM:615595
HP:0004325	Decreased body weight	197322	ACSF3	OMIM:614265
HP:0004325	Decreased body weight	197322	ACSF3	ORPHA:289504
HP:0004325	Decreased body weight	3703	STT3A	OMIM:615596
HP:0004325	Decreased body weight	3703	STT3A	ORPHA:370921
HP:0004325	Decreased body weight	6016	RIT1	OMIM:615355
HP:0004325	Decreased body weight	10054	UBA2	OMIM:619959
HP:0004325	Decreased body weight	4860	PNP	OMIM:613179
HP:0004325	Decreased body weight	2720	GLB1	OMIM:230600
HP:0004325	Decreased body weight	80270	HSD3B7	ORPHA:79301
HP:0004325	Decreased body weight	80270	HSD3B7	OMIM:607765
HP:0004325	Decreased body weight	79783	SUGCT	ORPHA:35706
HP:0004325	Decreased body weight	79783	SUGCT	OMIM:231690
HP:0004325	Decreased body weight	79848	CSPP1	ORPHA:397715
HP:0004325	Decreased body weight	9786	KIAA0586	ORPHA:397715
HP:0004325	Decreased body weight	4577	MT-TV	ORPHA:255210
HP:0004325	Decreased body weight	4508	MT-ATP6	ORPHA:255210
HP:0004325	Decreased body weight	4508	MT-ATP6	ORPHA:225154
HP:0004325	Decreased body weight	4566	MT-TK	ORPHA:255210
HP:0004325	Decreased body weight	3074	HEXB	ORPHA:309162
HP:0004325	Decreased body weight	249	ALPL	OMIM:241500
HP:0004325	Decreased body weight	3021	H3-3B	OMIM:619721
HP:0004325	Decreased body weight	1644	DDC	ORPHA:35708
HP:0004325	Decreased body weight	1528	CYB5A	ORPHA:90796
HP:0004325	Decreased body weight	1586	CYP17A1	ORPHA:90796
HP:0004325	Decreased body weight	1586	CYP17A1	ORPHA:90793
HP:0004325	Decreased body weight	51111	KMT5B	OMIM:617788
HP:0004325	Decreased body weight	790	CAD	OMIM:616457
HP:0004325	Decreased body weight	6523	SLC5A1	ORPHA:35710
HP:0004325	Decreased body weight	6523	SLC5A1	OMIM:606824
HP:0004325	Decreased body weight	3284	HSD3B2	ORPHA:90791
HP:0004325	Decreased body weight	6440	SFTPC	OMIM:610913
HP:0004325	Decreased body weight	23474	ETHE1	ORPHA:51188
HP:0004325	Decreased body weight	23474	ETHE1	OMIM:602473
HP:0004325	Decreased body weight	137492	VPS37A	ORPHA:319199
HP:0004325	Decreased body weight	91869	RFT1	ORPHA:244310
HP:0004325	Decreased body weight	91869	RFT1	OMIM:612015
HP:0004325	Decreased body weight	4853	NOTCH2	OMIM:102500
HP:0004325	Decreased body weight	4853	NOTCH2	ORPHA:955
HP:0004325	Decreased body weight	8560	DEGS1	OMIM:618404
HP:0004325	Decreased body weight	21	ABCA3	OMIM:610921
HP:0004325	Decreased body weight	5566	PRKACA	ORPHA:289
HP:0004325	Decreased body weight	5567	PRKACB	ORPHA:289
HP:0004325	Decreased body weight	2735	GLI1	ORPHA:289
HP:0004325	Decreased body weight	2121	EVC	ORPHA:289
HP:0004325	Decreased body weight	51626	DYNC2LI1	ORPHA:289
HP:0004325	Decreased body weight	132884	EVC2	ORPHA:289
HP:0004325	Decreased body weight	652	BMP4	OMIM:607932
HP:0004325	Decreased body weight	54872	PIGG	ORPHA:280
HP:0004325	Decreased body weight	7469	NELFA	ORPHA:280
HP:0004325	Decreased body weight	22872	SEC31A	OMIM:618651
HP:0004325	Decreased body weight	54968	TMEM70	OMIM:614052
HP:0004325	Decreased body weight	4297	KMT2A	ORPHA:319182
HP:0004325	Decreased body weight	4297	KMT2A	OMIM:605130
HP:0004325	Decreased body weight	28755	TRAC	OMIM:615387
HP:0004325	Decreased body weight	2783	GNB2	OMIM:619503
HP:0004325	Decreased body weight	3737	KCNA2	ORPHA:442835
HP:0004325	Decreased body weight	1759	DNM1	ORPHA:442835
HP:0004325	Decreased body weight	1759	DNM1	OMIM:620352
HP:0004325	Decreased body weight	8120	AP3B2	ORPHA:442835
HP:0004325	Decreased body weight	10991	SLC38A3	ORPHA:442835
HP:0004325	Decreased body weight	3747	KCNC2	ORPHA:442835
HP:0004325	Decreased body weight	1917	EEF1A2	ORPHA:442835
HP:0004325	Decreased body weight	23219	FBXO28	ORPHA:442835
HP:0004325	Decreased body weight	2561	GABRB2	ORPHA:442835
HP:0004325	Decreased body weight	8831	SYNGAP1	ORPHA:442835
HP:0004325	Decreased body weight	2558	GABRA5	ORPHA:442835
HP:0004325	Decreased body weight	2906	GRIN2D	ORPHA:442835
HP:0004325	Decreased body weight	2906	GRIN2D	OMIM:617162
HP:0004325	Decreased body weight	1213	CLTC	ORPHA:442835
HP:0004325	Decreased body weight	51741	WWOX	ORPHA:442835
HP:0004325	Decreased body weight	23334	SZT2	ORPHA:442835
HP:0004325	Decreased body weight	348980	HCN1	ORPHA:442835
HP:0004325	Decreased body weight	25977	NECAP1	ORPHA:442835
HP:0004325	Decreased body weight	23241	PACS2	ORPHA:442835
HP:0004325	Decreased body weight	6334	SCN8A	ORPHA:442835
HP:0004325	Decreased body weight	9568	GABBR2	ORPHA:442835
HP:0004325	Decreased body weight	2555	GABRA2	ORPHA:442835
HP:0004325	Decreased body weight	55152	DALRD3	ORPHA:442835
HP:0004325	Decreased body weight	26999	CYFIP2	ORPHA:442835
HP:0004325	Decreased body weight	4915	NTRK2	ORPHA:442835
HP:0004325	Decreased body weight	25973	PARS2	ORPHA:442835
HP:0004325	Decreased body weight	23097	CDK19	ORPHA:442835
HP:0004325	Decreased body weight	2257	FGF12	ORPHA:442835
HP:0004325	Decreased body weight	22906	TRAK1	ORPHA:442835
HP:0004325	Decreased body weight	22906	TRAK1	OMIM:618201
HP:0004325	Decreased body weight	2566	GABRG2	ORPHA:442835
HP:0004325	Decreased body weight	7532	YWHAG	ORPHA:442835
HP:0004325	Decreased body weight	79876	UBA5	ORPHA:442835
HP:0004325	Decreased body weight	79876	UBA5	OMIM:617132
HP:0004325	Decreased body weight	6328	SCN3A	ORPHA:442835
HP:0004325	Decreased body weight	6328	SCN3A	OMIM:617938
HP:0004325	Decreased body weight	781	CACNA2D1	ORPHA:442835
HP:0004325	Decreased body weight	10659	CELF2	ORPHA:442835
HP:0004325	Decreased body weight	774	CACNA1B	ORPHA:442835
HP:0004325	Decreased body weight	51412	ACTL6B	ORPHA:442835
HP:0004325	Decreased body weight	2290	FOXG1	ORPHA:442835
HP:0004325	Decreased body weight	6506	SLC1A2	ORPHA:442835
HP:0004325	Decreased body weight	8867	SYNJ1	ORPHA:442835
HP:0004325	Decreased body weight	3745	KCNB1	ORPHA:442835
HP:0004325	Decreased body weight	284111	SLC13A5	ORPHA:442835
HP:0004325	Decreased body weight	22866	CNKSR2	ORPHA:442835
HP:0004325	Decreased body weight	6323	SCN1A	ORPHA:442835
HP:0004325	Decreased body weight	6323	SCN1A	ORPHA:293181
HP:0004325	Decreased body weight	55361	PI4K2A	OMIM:620732
HP:0004325	Decreased body weight	7092	TLL1	ORPHA:99106
HP:0004325	Decreased body weight	8241	RBM10	OMIM:311900
HP:0004325	Decreased body weight	8241	RBM10	ORPHA:2886
HP:0004325	Decreased body weight	1789	DNMT3B	OMIM:242860
HP:0004325	Decreased body weight	54888	NSUN2	ORPHA:235
HP:0004325	Decreased body weight	10804	GJB6	ORPHA:477
HP:0004325	Decreased body weight	2706	GJB2	ORPHA:477
HP:0004325	Decreased body weight	9056	SLC7A7	ORPHA:470
HP:0004325	Decreased body weight	9056	SLC7A7	OMIM:222700
HP:0004325	Decreased body weight	1182	CLCN3	OMIM:619512
HP:0004325	Decreased body weight	142680	SLC34A3	OMIM:241530
HP:0004325	Decreased body weight	54914	FOCAD	OMIM:619991
HP:0004325	Decreased body weight	9453	GGPS1	OMIM:619518
HP:0004325	Decreased body weight	1660	DHX9	OMIM:620988
HP:0004325	Decreased body weight	57282	SLC4A10	OMIM:620746
HP:0004325	Decreased body weight	2592	GALT	OMIM:230400
HP:0004325	Decreased body weight	8021	NUP214	OMIM:618426
HP:0004325	Decreased body weight	4191	MDH2	OMIM:617339
HP:0004325	Decreased body weight	166785	MMAA	OMIM:251100
HP:0004325	Decreased body weight	5551	PRF1	OMIM:603553
HP:0004325	Decreased body weight	554	AVPR2	ORPHA:223
HP:0004325	Decreased body weight	554	AVPR2	OMIM:304800
HP:0004325	Decreased body weight	359	AQP2	ORPHA:223
HP:0004325	Decreased body weight	359	AQP2	OMIM:125800
HP:0004325	Decreased body weight	9533	POLR1C	OMIM:616494
HP:0004325	Decreased body weight	9533	POLR1C	ORPHA:861
HP:0004325	Decreased body weight	27086	FOXP1	ORPHA:391372
HP:0004325	Decreased body weight	5971	RELB	OMIM:617585
HP:0004325	Decreased body weight	2542	SLC37A4	OMIM:619525
HP:0004325	Decreased body weight	2542	SLC37A4	ORPHA:79259
HP:0004325	Decreased body weight	57492	ARID1B	ORPHA:251056
HP:0004325	Decreased body weight	5290	PIK3CA	ORPHA:168984
HP:0004325	Decreased body weight	5290	PIK3CA	ORPHA:201
HP:0004325	Decreased body weight	5290	PIK3CA	ORPHA:60040
HP:0004325	Decreased body weight	10743	RAI1	ORPHA:1713
HP:0004325	Decreased body weight	10743	RAI1	OMIM:182290
HP:0004325	Decreased body weight	675	BRCA2	OMIM:605724
HP:0004325	Decreased body weight	2271	FH	OMIM:606812
HP:0004325	Decreased body weight	57724	EPG5	OMIM:242840
HP:0004325	Decreased body weight	51651	PTRH2	OMIM:616263
HP:0004325	Decreased body weight	51651	PTRH2	ORPHA:456312
HP:0004325	Decreased body weight	5692	PSMB4	OMIM:617591
HP:0004325	Decreased body weight	79989	IFT56	OMIM:619534
HP:0004325	Decreased body weight	10848	PPP1R13L	OMIM:620519
HP:0004325	Decreased body weight	84522	JAGN1	OMIM:616022
HP:0004325	Decreased body weight	3930	LBR	OMIM:169400
HP:0004325	Decreased body weight	29929	ALG6	ORPHA:79320
HP:0004325	Decreased body weight	79087	ALG12	ORPHA:79324
HP:0004325	Decreased body weight	79087	ALG12	OMIM:607143
HP:0004325	Decreased body weight	10195	ALG3	OMIM:601110
HP:0004325	Decreased body weight	6595	SMARCA2	OMIM:601358
HP:0004325	Decreased body weight	81704	DOCK8	OMIM:243700
HP:0004325	Decreased body weight	27247	NFU1	OMIM:605711
HP:0004325	Decreased body weight	6261	RYR1	OMIM:619542
HP:0004325	Decreased body weight	6261	RYR1	ORPHA:424107
HP:0004325	Decreased body weight	57505	AARS2	OMIM:614096
HP:0004325	Decreased body weight	51117	COQ4	OMIM:616276
HP:0004325	Decreased body weight	3763	KCNJ6	OMIM:614098
HP:0004325	Decreased body weight	3763	KCNJ6	ORPHA:435628
HP:0004325	Decreased body weight	5256	PHKA2	ORPHA:264580
HP:0004325	Decreased body weight	5261	PHKG2	ORPHA:264580
HP:0004325	Decreased body weight	826	CAPNS1	OMIM:620777
HP:0004325	Decreased body weight	6792	CDKL5	ORPHA:1934
HP:0004325	Decreased body weight	3736	KCNA1	ORPHA:1934
HP:0004325	Decreased body weight	9091	PIGQ	ORPHA:1934
HP:0004325	Decreased body weight	140679	SLC32A1	ORPHA:1934
HP:0004325	Decreased body weight	2775	GNAO1	ORPHA:1934
HP:0004325	Decreased body weight	81603	TRIM8	ORPHA:1934
HP:0004325	Decreased body weight	2902	GRIN1	ORPHA:1934
HP:0004325	Decreased body weight	79751	SLC25A22	ORPHA:1934
HP:0004325	Decreased body weight	79751	SLC25A22	ORPHA:293181
HP:0004325	Decreased body weight	150094	SIK1	ORPHA:1934
HP:0004325	Decreased body weight	23312	DMXL2	ORPHA:1934
HP:0004325	Decreased body weight	170302	ARX	ORPHA:1934
HP:0004325	Decreased body weight	11284	PNKP	ORPHA:1934
HP:0004325	Decreased body weight	6326	SCN2A	ORPHA:1934
HP:0004325	Decreased body weight	6326	SCN2A	ORPHA:293181
HP:0004325	Decreased body weight	51227	PIGP	ORPHA:1934
HP:0004325	Decreased body weight	6324	SCN1B	ORPHA:1934
HP:0004325	Decreased body weight	4761	NEUROD2	ORPHA:1934
HP:0004325	Decreased body weight	204	AK2	ORPHA:33355
HP:0004325	Decreased body weight	9900	SV2A	OMIM:620772
HP:0004325	Decreased body weight	846	CASR	OMIM:239200
HP:0004325	Decreased body weight	4594	MMUT	ORPHA:79312
HP:0004325	Decreased body weight	4594	MMUT	OMIM:251000
HP:0004325	Decreased body weight	54808	DYM	ORPHA:239
HP:0004325	Decreased body weight	973	CD79A	ORPHA:33110
HP:0004325	Decreased body weight	973	CD79A	OMIM:613501
HP:0004325	Decreased body weight	974	CD79B	ORPHA:33110
HP:0004325	Decreased body weight	6688	SPI1	ORPHA:33110
HP:0004325	Decreased body weight	3543	IGLL1	ORPHA:33110
HP:0004325	Decreased body weight	29760	BLNK	ORPHA:33110
HP:0004325	Decreased body weight	5295	PIK3R1	ORPHA:33110
HP:0004325	Decreased body weight	5295	PIK3R1	ORPHA:397596
HP:0004325	Decreased body weight	56262	LRRC8A	ORPHA:33110
HP:0004325	Decreased body weight	84706	GPT2	OMIM:616281
HP:0004325	Decreased body weight	84706	GPT2	ORPHA:477673
HP:0004325	Decreased body weight	5076	PAX2	ORPHA:97362
HP:0004325	Decreased body weight	5087	PBX1	ORPHA:97362
HP:0004325	Decreased body weight	30000	TNPO2	OMIM:619556
HP:0004325	Decreased body weight	54892	NCAPG2	OMIM:618460
HP:0004325	Decreased body weight	498	ATP5F1A	OMIM:616045
HP:0004325	Decreased body weight	498	ATP5F1A	OMIM:620358
HP:0004325	Decreased body weight	79705	LRRK1	OMIM:615198
HP:0004325	Decreased body weight	51728	POLR3K	OMIM:619310
HP:0004325	Decreased body weight	8818	DPM2	ORPHA:329178
HP:0004325	Decreased body weight	2202	EFEMP1	OMIM:620780
HP:0004325	Decreased body weight	256297	PTF1A	OMIM:609069
HP:0004325	Decreased body weight	2627	GATA6	OMIM:600001
HP:0004325	Decreased body weight	2627	GATA6	ORPHA:2255
HP:0004325	Decreased body weight	58484	NLRC4	OMIM:616050
HP:0004325	Decreased body weight	1387	CREBBP	ORPHA:353281
HP:0004325	Decreased body weight	1387	CREBBP	OMIM:180849
HP:0004325	Decreased body weight	1387	CREBBP	ORPHA:353277
HP:0004325	Decreased body weight	26275	HIBCH	ORPHA:88639
HP:0004325	Decreased body weight	26275	HIBCH	OMIM:250620
HP:0004325	Decreased body weight	4695	NDUFA2	OMIM:618235
HP:0004325	Decreased body weight	29998	BICRA	OMIM:619325
HP:0004325	Decreased body weight	6651	SON	OMIM:617140
HP:0004325	Decreased body weight	6729	SRP54	OMIM:260400
HP:0004325	Decreased body weight	22861	NLRP1	OMIM:617388
HP:0004325	Decreased body weight	2033	EP300	ORPHA:353284
HP:0004325	Decreased body weight	2033	EP300	OMIM:180849
HP:0004325	Decreased body weight	6263	RYR3	OMIM:620310
HP:0004325	Decreased body weight	10166	SLC25A15	ORPHA:415
HP:0004325	Decreased body weight	10166	SLC25A15	OMIM:238970
HP:0004325	Decreased body weight	79068	FTO	OMIM:612938
HP:0004325	Decreased body weight	8869	ST3GAL5	OMIM:609056
HP:0004325	Decreased body weight	57551	TAOK1	OMIM:619575
HP:0004325	Decreased body weight	2530	FUT8	OMIM:618005
HP:0004325	Decreased body weight	1956	EGFR	OMIM:616069
HP:0004325	Decreased body weight	54496	PRMT7	OMIM:617157
HP:0004325	Decreased body weight	7019	TFAM	OMIM:617156
HP:0004325	Decreased body weight	3394	IRF8	OMIM:226990
HP:0004325	Decreased body weight	5831	PYCR1	OMIM:612940
HP:0004325	Decreased body weight	51079	NDUFA13	OMIM:618249
HP:0004325	Decreased body weight	29920	PYCR2	ORPHA:481152
HP:0004325	Decreased body weight	29920	PYCR2	OMIM:616420
HP:0004325	Decreased body weight	22845	DOLK	OMIM:610768
HP:0004325	Decreased body weight	22845	DOLK	ORPHA:91131
HP:0004325	Decreased body weight	10483	SEC23B	ORPHA:201
HP:0004325	Decreased body weight	5728	PTEN	ORPHA:201
HP:0004325	Decreased body weight	5728	PTEN	ORPHA:397596
HP:0004325	Decreased body weight	6390	SDHB	ORPHA:201
HP:0004325	Decreased body weight	6392	SDHD	ORPHA:201
HP:0004325	Decreased body weight	6391	SDHC	ORPHA:201
HP:0004325	Decreased body weight	207	AKT1	ORPHA:201
HP:0004325	Decreased body weight	205717	USF3	ORPHA:201
HP:0004325	Decreased body weight	100144748	KLLN	ORPHA:201
HP:0004325	Decreased body weight	80324	PUS1	OMIM:600462
HP:0004325	Decreased body weight	25942	SIN3A	ORPHA:94065
HP:0004325	Decreased body weight	191	AHCY	ORPHA:88618
HP:0004325	Decreased body weight	191	AHCY	OMIM:613752
HP:0004325	Decreased body weight	9496	TBX4	ORPHA:261279
HP:0004325	Decreased body weight	8091	HMGA2	ORPHA:94063
HP:0004325	Decreased body weight	23592	LEMD3	ORPHA:94063
HP:0004325	Decreased body weight	26276	VPS33B	OMIM:208085
HP:0004325	Decreased body weight	4714	NDUFB8	OMIM:618252
HP:0004325	Decreased body weight	91039	DPP9	OMIM:620331
HP:0004325	Decreased body weight	84701	COX4I2	OMIM:612714
HP:0004325	Decreased body weight	2628	GATM	OMIM:612718
HP:0004325	Decreased body weight	9791	PTDSS1	OMIM:151050
HP:0004325	Decreased body weight	11340	EXOSC8	OMIM:616081
HP:0004325	Decreased body weight	11340	EXOSC8	ORPHA:2254
HP:0004325	Decreased body weight	35	ACADS	OMIM:201470
HP:0004325	Decreased body weight	35	ACADS	ORPHA:26792
HP:0004325	Decreased body weight	9420	CYP7B1	OMIM:613812
HP:0004325	Decreased body weight	55636	CHD7	ORPHA:39041
HP:0004325	Decreased body weight	3575	IL7R	ORPHA:39041
HP:0004325	Decreased body weight	3575	IL7R	ORPHA:169154
HP:0004325	Decreased body weight	84172	POLR1B	ORPHA:861
HP:0004325	Decreased body weight	51082	POLR1D	ORPHA:861
HP:0004325	Decreased body weight	6949	TCOF1	ORPHA:861
HP:0004325	Decreased body weight	374354	NHLRC2	OMIM:618278
HP:0004325	Decreased body weight	440138	ALG11	ORPHA:280071
HP:0004325	Decreased body weight	23287	AGTPBP1	OMIM:618276
HP:0004325	Decreased body weight	23287	AGTPBP1	ORPHA:2254
HP:0004325	Decreased body weight	51703	ACSL5	OMIM:620357
HP:0004325	Decreased body weight	64093	SMOC1	OMIM:206920
HP:0004325	Decreased body weight	64093	SMOC1	ORPHA:1106
HP:0004325	Decreased body weight	6299	SALL1	ORPHA:857
HP:0004325	Decreased body weight	51339	DACT1	ORPHA:857
HP:0004325	Decreased body weight	55898	UNC45A	OMIM:619377
HP:0004325	Decreased body weight	23636	NUP62	ORPHA:225154
HP:0004325	Decreased body weight	23636	NUP62	OMIM:271930
HP:0004325	Decreased body weight	53371	NUP54	ORPHA:225154
HP:0004325	Decreased body weight	103	ADAR	ORPHA:225154
HP:0004325	Decreased body weight	51371	POMP	OMIM:618048
HP:0004325	Decreased body weight	2332	FMR1	ORPHA:261483
HP:0004325	Decreased body weight	1984	EIF5A	OMIM:619376
HP:0004325	Decreased body weight	210	ALAD	OMIM:612740
HP:0004325	Decreased body weight	1583	CYP11A1	ORPHA:168558
HP:0004325	Decreased body weight	1583	CYP11A1	ORPHA:289548
HP:0004325	Decreased body weight	3295	HSD17B4	OMIM:261515
HP:0004325	Decreased body weight	2581	GALC	ORPHA:206436
HP:0004325	Decreased body weight	2581	GALC	OMIM:245200
HP:0004325	Decreased body weight	5660	PSAP	ORPHA:206436
HP:0004325	Decreased body weight	4693	NDP	ORPHA:649
HP:0004325	Decreased body weight	124454	EARS2	OMIM:614924
HP:0004325	Decreased body weight	23522	KAT6B	ORPHA:3047
HP:0004325	Decreased body weight	11011	TLK2	OMIM:618050
HP:0004325	Decreased body weight	23040	MYT1L	ORPHA:647799
HP:0004325	Decreased body weight	3735	KARS1	OMIM:619147
HP:0004325	Decreased body weight	132001	TAMM41	OMIM:620139
HP:0004325	Decreased body weight	54938	SARS2	OMIM:613845
HP:0004325	Decreased body weight	4067	LYN	OMIM:620376
HP:0004325	Decreased body weight	6584	SLC22A5	OMIM:212140
HP:0004325	Decreased body weight	11113	CIT	OMIM:617090
HP:0004325	Decreased body weight	4702	NDUFA8	OMIM:619272
HP:0004325	Decreased body weight	10128	LRPPRC	OMIM:220111
HP:0004325	Decreased body weight	10128	LRPPRC	ORPHA:70472
HP:0004325	Decreased body weight	10134	BCAP31	OMIM:300475
HP:0004325	Decreased body weight	10134	BCAP31	ORPHA:369939
HP:0004325	Decreased body weight	3376	IARS1	OMIM:617093
HP:0004325	Decreased body weight	259232	NALCN	ORPHA:2053
HP:0004325	Decreased body weight	91574	MTRFR	ORPHA:254930
HP:0004325	Decreased body weight	91574	MTRFR	OMIM:613559
HP:0004325	Decreased body weight	4570	MT-TN	OMIM:220110
HP:0004325	Decreased body weight	6834	SURF1	OMIM:220110
HP:0004325	Decreased body weight	57468	SLC12A5	ORPHA:293181
HP:0004325	Decreased body weight	23236	PLCB1	ORPHA:293181
HP:0004325	Decreased body weight	3785	KCNQ2	ORPHA:293181
HP:0004325	Decreased body weight	57582	KCNT1	ORPHA:293181
HP:0004325	Decreased body weight	5277	PIGA	ORPHA:293181
HP:0004325	Decreased body weight	57465	TBC1D24	ORPHA:293181
HP:0004325	Decreased body weight	10274	STAG1	ORPHA:502434
HP:0004325	Decreased body weight	4774	NFIA	OMIM:613735
HP:0004325	Decreased body weight	8496	PPFIBP1	OMIM:620024
HP:0004325	Decreased body weight	8443	GNPAT	OMIM:222765
HP:0004325	Decreased body weight	6341	SCO1	OMIM:619048
HP:0004325	Decreased body weight	162	AP1B1	OMIM:242150
HP:0004325	Decreased body weight	1352	COX10	OMIM:619046
HP:0004325	Decreased body weight	55163	PNPO	ORPHA:79096
HP:0004325	Decreased body weight	55163	PNPO	OMIM:610090
HP:0004325	Decreased body weight	7015	TERT	OMIM:613989
HP:0004325	Decreased body weight	7015	TERT	ORPHA:3322
HP:0004325	Decreased body weight	7535	ZAP70	OMIM:269840
HP:0004325	Decreased body weight	7535	ZAP70	ORPHA:911
HP:0004325	Decreased body weight	7298	TYMS	OMIM:620040
HP:0004325	Decreased body weight	105371045	PERCC1	ORPHA:92050
HP:0004325	Decreased body weight	51360	MBTPS2	ORPHA:2273
HP:0004325	Decreased body weight	8647	ABCB11	OMIM:601847
HP:0004325	Decreased body weight	100131801	PET100	OMIM:619055
HP:0004325	Decreased body weight	3899	AFF3	OMIM:619297
HP:0004325	Decreased body weight	1136	CHRNA3	OMIM:191800
HP:0004325	Decreased body weight	6499	SKIC2	OMIM:614602
HP:0004325	Decreased body weight	340061	STING1	OMIM:615934
HP:0004325	Decreased body weight	3117	HLA-DQA1	OMIM:212750
HP:0004325	Decreased body weight	3119	HLA-DQB1	OMIM:212750
HP:0004325	Decreased body weight	55107	ANO1	OMIM:620045
HP:0004325	Decreased body weight	7080	NKX2-1	ORPHA:209905
HP:0004325	Decreased body weight	5095	PCCA	OMIM:606054
HP:0004325	Decreased body weight	5096	PCCB	OMIM:606054
HP:0004325	Decreased body weight	1717	DHCR7	OMIM:270400
HP:0004325	Decreased body weight	58	ACTA1	ORPHA:2020
HP:0004325	Decreased body weight	4633	MYL2	ORPHA:2020
HP:0004325	Decreased body weight	3679	ITGA7	ORPHA:2020
HP:0004325	Decreased body weight	7169	TPM2	ORPHA:2020
HP:0004325	Decreased body weight	9200	HACD1	ORPHA:2020
HP:0004325	Decreased body weight	51776	MAP3K20	ORPHA:2020
HP:0004325	Decreased body weight	132158	GLYCTK	OMIM:220120
HP:0004325	Decreased body weight	28976	ACAD9	ORPHA:99901
HP:0004325	Decreased body weight	3265	HRAS	OMIM:218040
HP:0004325	Decreased body weight	5826	ABCD4	OMIM:614857
HP:0004325	Decreased body weight	8517	IKBKG	ORPHA:98813
HP:0004325	Decreased body weight	338328	GPIHBP1	OMIM:615947
HP:0004325	Decreased body weight	2697	GJA1	OMIM:257850
HP:0004325	Decreased body weight	6521	SLC4A1	OMIM:611590
HP:0004325	Decreased body weight	9255	AIMP1	OMIM:260600
HP:0004325	Decreased body weight	540	ATP7B	ORPHA:905
HP:0004325	Decreased body weight	51010	EXOSC3	ORPHA:2254
HP:0004325	Decreased body weight	7443	VRK1	ORPHA:2254
HP:0004325	Decreased body weight	91137	SLC25A46	ORPHA:2254
HP:0004325	Decreased body weight	23600	AMACR	OMIM:214950
HP:0004325	Decreased body weight	6609	SMPD1	OMIM:257200
HP:0004325	Decreased body weight	5700	PSMC1	OMIM:620071
HP:0004325	Decreased body weight	190	NR0B1	OMIM:300200
HP:0004325	Decreased body weight	58508	KMT2C	ORPHA:261652
HP:0004325	Decreased body weight	5293	PIK3CD	ORPHA:397596
HP:0004325	Decreased body weight	2548	GAA	ORPHA:308552
HP:0004325	Decreased body weight	5159	PDGFRB	OMIM:601812
HP:0004325	Decreased body weight	4306	NR3C2	OMIM:177735
HP:0004325	Decreased body weight	3845	KRAS	ORPHA:3339
HP:0004325	Decreased body weight	3845	KRAS	OMIM:609942
HP:0004325	Decreased body weight	1811	SLC26A3	OMIM:214700
HP:0004325	Decreased body weight	5832	ALDH18A1	OMIM:219150
HP:0004325	Decreased body weight	3187	HNRNPH1	OMIM:620083
HP:0004325	Decreased body weight	9342	SNAP29	OMIM:609528
HP:0004325	Decreased body weight	64220	STRA6	ORPHA:2470
HP:0004325	Decreased body weight	7477	WNT7B	ORPHA:2470
HP:0004325	Decreased body weight	5915	RARB	ORPHA:2470
HP:0004325	Decreased body weight	23483	TGDS	ORPHA:1388
HP:0004325	Decreased body weight	8195	MKKS	ORPHA:2473
HP:0004325	Decreased body weight	51750	RTEL1	ORPHA:3322
HP:0004325	Decreased body weight	65057	ACD	ORPHA:3322
HP:0004325	Decreased body weight	26277	TINF2	ORPHA:3322
HP:0004325	Decreased body weight	1736	DKC1	ORPHA:3322
HP:0004325	Decreased body weight	1736	DKC1	OMIM:301108
HP:0004325	Decreased body weight	51067	YARS2	OMIM:613561
HP:0004325	Decreased body weight	2703	GJA8	OMIM:612474
HP:0004325	Decreased body weight	2702	GJA5	OMIM:612474
HP:0004325	Decreased body weight	867	CBL	OMIM:613563
HP:0004325	Decreased body weight	55690	PACS1	ORPHA:329224
HP:0004325	Decreased body weight	79628	SH3TC2	ORPHA:99949
HP:0004325	Decreased body weight	6307	MSMO1	OMIM:616834
HP:0004325	Decreased body weight	2200	FBN1	ORPHA:2462
HP:0004325	Decreased body weight	55112	DYNC2I1	OMIM:615503
HP:0004325	Decreased body weight	63895	PIEZO2	ORPHA:2461
HP:0004325	Decreased body weight	1828	DSG1	OMIM:615508
HP:0004325	Decreased body weight	6888	TALDO1	OMIM:606003
HP:0004325	Decreased body weight	865	CBFB	OMIM:620099
HP:0004325	Decreased body weight	2068	ERCC2	ORPHA:910
HP:0004325	Decreased body weight	7507	XPA	ORPHA:910
HP:0004325	Decreased body weight	2071	ERCC3	ORPHA:910
HP:0004325	Decreased body weight	7508	XPC	ORPHA:910
HP:0004325	Decreased body weight	1643	DDB2	ORPHA:910
HP:0004325	Decreased body weight	2073	ERCC5	ORPHA:910
HP:0004325	Decreased body weight	5122	PCSK1	ORPHA:71528
HP:0004325	Decreased body weight	2632	GBE1	OMIM:232500
HP:0004325	Decreased body weight	7167	TPI1	OMIM:615512
HP:0004325	Decreased body weight	100151683	RNU4ATAC	OMIM:210710
HP:0004325	Decreased body weight	3932	LCK	OMIM:615758
HP:0004325	Decreased body weight	5443	POMC	ORPHA:71526
HP:0004325	Decreased body weight	5250	SLC25A3	ORPHA:91130
HP:0004325	Decreased body weight	4173	MCM4	OMIM:609981
HP:0004325	Decreased body weight	8050	PDHX	ORPHA:255182
HP:0004325	Decreased body weight	10157	AASS	ORPHA:2203
HP:0004325	Decreased body weight	23095	KIF1B	OMIM:256700
HP:0004325	Decreased body weight	55784	MCTP2	ORPHA:1596
HP:0004325	Decreased body weight	59067	IL21	OMIM:615767
HP:0004325	Decreased body weight	51116	MRPS2	OMIM:617950
HP:0004325	Decreased body weight	9512	PMPCB	OMIM:617954
HP:0004325	Decreased body weight	2058	EPRS1	OMIM:617951
HP:0004325	Decreased body weight	10095	ARPC1B	OMIM:617718
HP:0004325	Decreased body weight	91647	ATPAF2	OMIM:604273
HP:0004325	Decreased body weight	3758	KCNJ1	OMIM:241200
HP:0004325	Decreased body weight	54664	TMEM106B	OMIM:617964
HP:0004325	Decreased body weight	7421	VDR	OMIM:277440
HP:0004325	Decreased body weight	89874	SLC25A21	OMIM:618811
HP:0004325	Decreased body weight	55644	OSGEP	OMIM:617729
HP:0004325	Decreased body weight	2584	GALK1	ORPHA:79237
HP:0004325	Decreased body weight	7874	USP7	ORPHA:500055
HP:0004325	Decreased body weight	51501	HIKESHI	OMIM:616881
HP:0004325	Decreased body weight	5205	ATP8B1	OMIM:211600
HP:0004325	Decreased body weight	6925	TCF4	ORPHA:2896
HP:0004325	Decreased body weight	189	AGXT	ORPHA:93598
HP:0004325	Decreased body weight	7204	TRIO	ORPHA:476126
HP:0004325	Decreased body weight	4780	NFE2L2	OMIM:617744
HP:0004325	Decreased body weight	11005	SPINK5	OMIM:256500
HP:0004325	Decreased body weight	2670	GFAP	ORPHA:363717
HP:0004325	Decreased body weight	5500	PPP1CB	OMIM:617506
HP:0004325	Decreased body weight	54676	GTPBP2	OMIM:617988
HP:0004325	Decreased body weight	100506658	OCLN	OMIM:251290
HP:0004325	Decreased body weight	6519	SLC3A1	ORPHA:163690
HP:0004325	Decreased body weight	6519	SLC3A1	ORPHA:163693
HP:0004325	Decreased body weight	9581	PREPL	ORPHA:163690
HP:0004325	Decreased body weight	9581	PREPL	ORPHA:163693
HP:0004325	Decreased body weight	5495	PPM1B	ORPHA:163693
HP:0004325	Decreased body weight	79823	CAMKMT	ORPHA:163693
HP:0004325	Decreased body weight	6337	SCNN1A	OMIM:264350
HP:0004325	Decreased body weight	9414	TJP2	OMIM:607748
HP:0004325	Decreased body weight	4841	NONO	ORPHA:466791
HP:0004325	Decreased body weight	2819	GPD1	OMIM:614480
HP:0004325	Decreased body weight	139818	DOCK11	OMIM:301109
HP:0004325	Decreased body weight	440	ASNS	OMIM:615574
HP:0004325	Decreased body weight	27040	LAT	OMIM:617514
HP:0004325	Decreased body weight	738	VPS51	OMIM:618606
HP:0004325	Decreased body weight	8815	BANF1	OMIM:614008
HP:0004325	Decreased body weight	25974	MMACHC	ORPHA:79282
HP:0004325	Decreased body weight	25974	MMACHC	OMIM:277400
HP:0004325	Decreased body weight	27249	MMADHC	ORPHA:79283
HP:0004325	Decreased body weight	5430	POLR2A	OMIM:618603
HP:0004325	Decreased body weight	1807	DPYS	OMIM:222748
HP:0004325	Decreased body weight	6223	RPS19	OMIM:105650
HP:0004325	Decreased body weight	2639	GCDH	OMIM:231670
HP:0004325	Decreased body weight	101929726	MYMX	OMIM:619941
HP:0004325	Decreased body weight	8803	SUCLA2	OMIM:612073
HP:0004325	Decreased body weight	92935	MARS2	OMIM:616430
HP:0004325	Decreased body weight	79587	CARS2	OMIM:616672
HP:0004325	Decreased body weight	7372	UMPS	OMIM:258900
HP:0004325	Decreased body weight	55753	OGDHL	OMIM:619701
HP:0004325	Decreased body weight	5052	PRDX1	OMIM:277400
HP:0004325	Decreased body weight	2582	GALE	OMIM:230350
HP:0004325	Decreased body weight	7528	YY1	ORPHA:506358
HP:0004325	Decreased body weight	81555	YIPF5	OMIM:619278
HP:0004325	Decreased body weight	7068	THRB	OMIM:274300
HP:0004325	Decreased body weight	84942	WDR73	OMIM:251300
HP:0004325	Decreased body weight	57176	VARS2	OMIM:615917
HP:0004325	Decreased body weight	9401	RECQL4	OMIM:268400
HP:0004325	Decreased body weight	9401	RECQL4	ORPHA:221016
HP:0004325	Decreased body weight	4487	MSX1	ORPHA:199302
HP:0004325	Decreased body weight	5818	NECTIN1	ORPHA:199302
HP:0004325	Decreased body weight	8626	TP63	ORPHA:199302
HP:0004325	Decreased body weight	3664	IRF6	ORPHA:199302
HP:0004325	Decreased body weight	5932	RBBP8	OMIM:606744
HP:0004325	Decreased body weight	2175	FANCA	OMIM:227650
HP:0004325	Decreased body weight	1785	DNM2	OMIM:615368
HP:0004325	Decreased body weight	1841	DTYMK	OMIM:619847
HP:0004325	Decreased body weight	318	NUDT2	OMIM:619844
HP:0004325	Decreased body weight	10847	SRCAP	ORPHA:2044
HP:0004325	Decreased body weight	10908	PNPLA6	OMIM:275400
HP:0004325	Decreased body weight	10908	PNPLA6	ORPHA:3363
HP:0004325	Decreased body weight	4868	NPHS1	OMIM:256300
HP:0004325	Decreased body weight	55870	ASH1L	OMIM:617796
HP:0004325	Decreased body weight	116228	COX20	OMIM:619054
HP:0004325	Decreased body weight	6884	TAF13	OMIM:617432
HP:0004325	Decreased body weight	55037	PTCD3	OMIM:619057
HP:0004325	Decreased body weight	1272	CNTN1	OMIM:612540
HP:0004325	Decreased body weight	816	CAMK2B	OMIM:617799
HP:0004325	Decreased body weight	90993	CREB3L1	OMIM:616229
HP:0004325	Decreased body weight	54675	CRLS1	OMIM:620167
HP:0004325	Decreased body weight	157680	VPS13B	OMIM:216550
HP:0004325	Decreased body weight	26053	AUTS2	ORPHA:352490
HP:0004325	Decreased body weight	26053	AUTS2	OMIM:615834
HP:0004325	Decreased body weight	7386	UQCRFS1	OMIM:618775
HP:0004325	Decreased body weight	833	CARS1	OMIM:618891
HP:0004325	Decreased body weight	2903	GRIN2A	ORPHA:289266
HP:0004325	Decreased body weight	2903	GRIN2A	OMIM:245570
HP:0004325	Decreased body weight	55012	PPP2R3C	OMIM:618419
HP:0004325	Decreased body weight	51021	MRPS16	OMIM:610498
HP:0004325	Decreased body weight	5447	POR	OMIM:201750
HP:0004325	Decreased body weight	55621	TRMT1	OMIM:618302
HP:0004325	Decreased body weight	4593	MUSK	OMIM:208150
HP:0004325	Decreased body weight	2321	FLT1	ORPHA:275555
HP:0004325	Decreased body weight	219736	STOX1	ORPHA:275555
HP:0004325	Decreased body weight	10699	CORIN	ORPHA:275555
HP:0004325	Decreased body weight	79753	SNIP1	OMIM:614501
HP:0004325	Decreased body weight	23345	SYNE1	ORPHA:319332
HP:0004325	Decreased body weight	23345	SYNE1	OMIM:618484
HP:0004325	Decreased body weight	7385	UQCRC2	OMIM:615160
HP:0004325	Decreased body weight	5244	ABCB4	ORPHA:69665
HP:0004325	Decreased body weight	1028	CDKN1C	ORPHA:397590
HP:0004325	Decreased body weight	641	BLM	OMIM:210900
HP:0004325	Decreased body weight	641	BLM	ORPHA:125
HP:0004325	Decreased body weight	79728	PALB2	OMIM:610832
HP:0004325	Decreased body weight	2683	B4GALT1	ORPHA:79332
HP:0004325	Decreased body weight	5286	PIK3C2A	OMIM:618440
HP:0004325	Decreased body weight	8218	CLTCL1	ORPHA:453510
HP:0004325	Decreased body weight	2961	GTF2E2	OMIM:616943
HP:0004325	Decreased body weight	701	BUB1B	OMIM:257300
HP:0004325	Decreased body weight	9896	FIG4	OMIM:216340
HP:0004325	Decreased body weight	6567	SLC16A2	ORPHA:59
HP:0004325	Decreased body weight	6138	RPL15	ORPHA:124
HP:0004325	Decreased body weight	6224	RPS20	ORPHA:124
HP:0004325	Decreased body weight	6165	RPL35A	ORPHA:124
HP:0004325	Decreased body weight	6132	RPL8	ORPHA:124
HP:0004325	Decreased body weight	6232	RPS27	ORPHA:124
HP:0004325	Decreased body weight	55027	HEATR3	ORPHA:124
HP:0004325	Decreased body weight	6160	RPL31	ORPHA:124
HP:0004325	Decreased body weight	6201	RPS7	ORPHA:124
HP:0004325	Decreased body weight	6155	RPL27	ORPHA:124
HP:0004325	Decreased body weight	6234	RPS28	ORPHA:124
HP:0004325	Decreased body weight	6135	RPL11	ORPHA:124
HP:0004325	Decreased body weight	6229	RPS24	ORPHA:124
HP:0004325	Decreased body weight	6204	RPS10	ORPHA:124
HP:0004325	Decreased body weight	2623	GATA1	ORPHA:124
HP:0004325	Decreased body weight	6133	RPL9	ORPHA:124
HP:0004325	Decreased body weight	6231	RPS26	ORPHA:124
HP:0004325	Decreased body weight	11224	RPL35	ORPHA:124
HP:0004325	Decreased body weight	6218	RPS17	ORPHA:124
HP:0004325	Decreased body weight	6154	RPL26	ORPHA:124
HP:0004325	Decreased body weight	6210	RPS15A	ORPHA:124
HP:0004325	Decreased body weight	90121	TSR2	ORPHA:124
HP:0004325	Decreased body weight	6141	RPL18	ORPHA:124
HP:0004325	Decreased body weight	6235	RPS29	ORPHA:124
HP:0004325	Decreased body weight	51816	ADA2	ORPHA:124
HP:0004325	Decreased body weight	5631	PRPS1	OMIM:300661
HP:0004325	Decreased body weight	56160	NSMCE3	OMIM:617241
HP:0004325	Decreased body weight	6927	HNF1A	ORPHA:324575
HP:0004325	Decreased body weight	51025	PAM16	OMIM:613320
HP:0004325	Decreased body weight	10075	HUWE1	OMIM:309590
HP:0004325	Decreased body weight	4041	LRP5	ORPHA:90050
HP:0004325	Decreased body weight	8322	FZD4	ORPHA:90050
HP:0004325	Decreased body weight	388015	RTL1	ORPHA:254534
HP:0004325	Decreased body weight	388015	RTL1	ORPHA:96184
HP:0004325	Decreased body weight	8788	DLK1	ORPHA:254534
HP:0004325	Decreased body weight	8788	DLK1	ORPHA:96184
HP:0004325	Decreased body weight	55384	MEG3	ORPHA:254534
HP:0004325	Decreased body weight	55384	MEG3	ORPHA:96184
HP:0004325	Decreased body weight	1499	CTNNB1	OMIM:615075
HP:0004325	Decreased body weight	579	NKX3-2	OMIM:613330
HP:0004325	Decreased body weight	23363	OBSL1	OMIM:612921
HP:0004325	Decreased body weight	7253	TSHR	ORPHA:424
HP:0004325	Decreased body weight	7253	TSHR	OMIM:609152
HP:0004325	Decreased body weight	55593	OTUD5	OMIM:301056
HP:0004325	Decreased body weight	23395	LARS2	OMIM:617021
HP:0004325	Decreased body weight	1062	CENPE	OMIM:616051
HP:0004325	Decreased body weight	5160	PDHA1	OMIM:312170
HP:0004325	Decreased body weight	5160	PDHA1	ORPHA:79243
HP:0004325	Decreased body weight	10229	COQ7	OMIM:616733
HP:0004325	Decreased body weight	2710	GK	OMIM:307030
HP:0004325	Decreased body weight	63925	ZNF335	OMIM:615095
HP:0004325	Decreased body weight	50619	DEF6	OMIM:619573
HP:0004325	Decreased body weight	23511	NUP188	OMIM:618804
HP:0004325	Decreased body weight	1277	COL1A1	OMIM:166210
HP:0004325	Decreased body weight	1278	COL1A2	OMIM:166210
HP:0004325	Decreased body weight	9820	CUL7	OMIM:273750
HP:0004325	Decreased body weight	9361	LONP1	ORPHA:79243
HP:0004325	Decreased body weight	22827	PUF60	ORPHA:508488
HP:0004325	Decreased body weight	22827	PUF60	OMIM:615583
HP:0004325	Decreased body weight	2178	FANCE	OMIM:600901
HP:0004325	Decreased body weight	4905	NSF	OMIM:619340
HP:0004325	Decreased body weight	10046	MAMLD1	ORPHA:95706
HP:0004325	Decreased body weight	367	AR	ORPHA:95706
HP:0004325	Decreased body weight	5573	PRKAR1A	OMIM:101800
HP:0004325	Decreased body weight	3835	KIF22	ORPHA:93360
HP:0004325	Decreased body weight	57187	THOC2	OMIM:300957
HP:0004325	Decreased body weight	29927	SEC61A1	OMIM:617056
HP:0004325	Decreased body weight	92002	CCNQ	OMIM:300707
HP:0004325	Decreased body weight	4796	TONSL	ORPHA:93357
HP:0004325	Decreased body weight	1727	CYB5R3	ORPHA:621
HP:0004325	Decreased body weight	6697	SPR	ORPHA:70594
HP:0004325	Decreased body weight	213	ALB	ORPHA:86816
HP:0004325	Decreased body weight	1836	SLC26A2	OMIM:222600
HP:0004325	Decreased body weight	60558	GUF1	OMIM:617065
HP:0004325	Decreased body weight	9918	NCAPD2	OMIM:617983
HP:0004325	Decreased body weight	57477	SHROOM4	ORPHA:85288
HP:0004325	Decreased body weight	10293	TRAIP	OMIM:616777
HP:0004325	Decreased body weight	9702	CEP57	OMIM:614114
HP:0004325	Decreased body weight	202018	TAPT1	OMIM:616897
HP:0004325	Decreased body weight	23397	NCAPH	OMIM:617985
HP:0004325	Decreased body weight	23310	NCAPD3	OMIM:617984
HP:0004325	Decreased body weight	10436	EMG1	OMIM:211180
HP:0004325	Decreased body weight	2177	FANCD2	OMIM:227646
HP:0004325	Decreased body weight	5805	PTS	OMIM:261640
HP:0004325	Decreased body weight	2176	FANCC	OMIM:227645
HP:0004325	Decreased body weight	37	ACADVL	ORPHA:26793
HP:0004325	Decreased body weight	29928	TIMM22	OMIM:618851
HP:0004325	Decreased body weight	1968	EIF2S3	OMIM:300148
HP:0004325	Decreased body weight	146059	CDAN1	OMIM:224120
HP:0004325	Decreased body weight	10736	SIX2	ORPHA:488437
HP:0004325	Decreased body weight	4713	NDUFB7	OMIM:620135
HP:0004325	Decreased body weight	64682	ANAPC1	ORPHA:221008
HP:0004325	Decreased body weight	55697	VAC14	ORPHA:3472
HP:0004325	Decreased body weight	285175	UNC80	ORPHA:371364
HP:0004325	Decreased body weight	5191	PEX7	OMIM:215100
HP:0004325	Decreased body weight	90268	OTULIN	OMIM:617099
HP:0004325	Decreased body weight	7355	SLC35A2	ORPHA:356961
HP:0004325	Decreased body weight	5880	RAC2	OMIM:618987
HP:0004325	Decreased body weight	100033413	SNORD116-1	OMIM:176270
HP:0004325	Decreased body weight	8924	HERC2	OMIM:176270
HP:0004325	Decreased body weight	23742	NPAP1	OMIM:176270
HP:0004325	Decreased body weight	338433	SNORD115-1	OMIM:176270
HP:0004325	Decreased body weight	7681	MKRN3	OMIM:176270
HP:0004325	Decreased body weight	145624	PWAR1	OMIM:176270
HP:0004325	Decreased body weight	3653	IPW	OMIM:176270
HP:0004325	Decreased body weight	791114	PWRN1	OMIM:176270
HP:0004325	Decreased body weight	4056	LTC4S	OMIM:614037
HP:0004325	Decreased body weight	2314	FLII	ORPHA:819
HP:0004325	Decreased body weight	23096	IQSEC2	ORPHA:819
HP:0004325	Decreased body weight	10522	DEAF1	ORPHA:819
HP:0004325	Decreased body weight	56992	KIF15	ORPHA:261323
HP:0004325	Decreased body weight	1439	CSF2RB	ORPHA:264675
HP:0004325	Decreased body weight	7084	TK2	ORPHA:254875
HP:0004325	Decreased body weight	26007	TKFC	OMIM:618805
HP:0004325	Decreased body weight	5605	MAP2K2	ORPHA:1340
HP:0004325	Decreased body weight	3431	SP110	ORPHA:79124
HP:0004325	Decreased body weight	83480	PUS3	ORPHA:488627
HP:0004325	Decreased body weight	9377	COX5A	OMIM:619064
HP:0004325	Decreased body weight	29968	PSAT1	ORPHA:284417
HP:0004325	Decreased body weight	5718	PSMD12	ORPHA:529962
HP:0004325	Decreased body weight	2186	BPTF	ORPHA:529962
HP:0004325	Decreased body weight	4697	NDUFA4	OMIM:619065
HP:0004325	Decreased body weight	23495	TNFRSF13B	ORPHA:1572
HP:0004325	Decreased body weight	4790	NFKB1	ORPHA:1572
HP:0004325	Decreased body weight	115650	TNFRSF13C	ORPHA:1572
HP:0004325	Decreased body weight	8742	TNFSF12	ORPHA:1572
HP:0004325	Decreased body weight	930	CD19	ORPHA:1572
HP:0004325	Decreased body weight	29851	ICOS	ORPHA:1572
HP:0004325	Decreased body weight	931	MS4A1	ORPHA:1572
HP:0004325	Decreased body weight	975	CD81	ORPHA:1572
HP:0004325	Decreased body weight	10043	TOM1	OMIM:619510
HP:0004325	Decreased body weight	3043	HBB	ORPHA:231214
HP:0004325	Decreased body weight	3043	HBB	ORPHA:231226
HP:0004325	Decreased body weight	5167	ENPP1	ORPHA:51608
HP:0004325	Decreased body weight	368	ABCC6	ORPHA:51608
HP:0004325	Decreased body weight	7461	CLIP2	ORPHA:904
HP:0004325	Decreased body weight	84277	DNAJC30	ORPHA:904
HP:0004325	Decreased body weight	8468	FKBP6	ORPHA:904
HP:0004325	Decreased body weight	5982	RFC2	ORPHA:904
HP:0004325	Decreased body weight	2969	GTF2I	ORPHA:904
HP:0004325	Decreased body weight	3984	LIMK1	ORPHA:904
HP:0004325	Decreased body weight	9569	GTF2IRD1	ORPHA:904
HP:0004325	Decreased body weight	155382	VPS37D	ORPHA:904
HP:0004325	Decreased body weight	155368	METTL27	ORPHA:904
HP:0004325	Decreased body weight	114049	BUD23	ORPHA:904
HP:0004325	Decreased body weight	7458	EIF4H	ORPHA:904
HP:0004325	Decreased body weight	84163	GTF2IRD2	ORPHA:904
HP:0004325	Decreased body weight	26608	TBL2	ORPHA:904
HP:0004325	Decreased body weight	653361	NCF1	ORPHA:904
HP:0004325	Decreased body weight	135886	TMEM270	ORPHA:904
HP:0004325	Decreased body weight	9031	BAZ1B	ORPHA:904
HP:0004325	Decreased body weight	2006	ELN	ORPHA:904
HP:0004325	Decreased body weight	2006	ELN	OMIM:194050
HP:0004325	Decreased body weight	3032	HADHB	ORPHA:746
HP:0004325	Decreased body weight	8405	SPOP	OMIM:618829
HP:0004325	Decreased body weight	2222	FDFT1	OMIM:618156
HP:0004325	Decreased body weight	83737	ITCH	OMIM:613385
HP:0004325	Decreased body weight	83737	ITCH	ORPHA:228426
HP:0004325	Decreased body weight	3557	IL1RN	OMIM:612852
HP:0004325	Decreased body weight	51085	MLXIPL	OMIM:194050
HP:0004325	Decreased body weight	10463	SLC30A9	OMIM:617595
HP:0004325	Decreased body weight	64116	SLC39A8	ORPHA:468699
HP:0004325	Decreased body weight	84842	HPDL	OMIM:619026
HP:0004325	Decreased body weight	7043	TGFB3	OMIM:615582
HP:0004325	Decreased body weight	4654	MYOD1	OMIM:618975
HP:0004325	Decreased body weight	78987	CRELD1	OMIM:620771
HP:0004325	Decreased body weight	5781	PTPN11	OMIM:163950
HP:0004325	Decreased body weight	8925	HERC1	ORPHA:457359
HP:0004325	Decreased body weight	50814	NSDHL	OMIM:300831
HP:0004325	Decreased body weight	50814	NSDHL	ORPHA:251383
HP:0004325	Decreased body weight	2892	GRIA3	OMIM:300699
HP:0004325	Decreased body weight	2892	GRIA3	ORPHA:364028
HP:0004325	Decreased body weight	65109	UPF3B	OMIM:300676
HP:0004325	Decreased body weight	84665	MYPN	ORPHA:171439
HP:0004325	Decreased body weight	390594	KBTBD13	ORPHA:171439
HP:0004325	Decreased body weight	4703	NEB	ORPHA:171439
HP:0004325	Decreased body weight	4703	NEB	OMIM:256030
HP:0004325	Decreased body weight	4703	NEB	ORPHA:399103
HP:0004325	Decreased body weight	10324	KLHL41	ORPHA:171439
HP:0004325	Decreased body weight	1890	TYMP	OMIM:603041
HP:0004325	Decreased body weight	7138	TNNT1	OMIM:620389
HP:0004325	Decreased body weight	7486	WRN	ORPHA:902
HP:0004325	Decreased body weight	23152	CIC	OMIM:617600
HP:0004325	Decreased body weight	6301	SARS1	OMIM:617709
HP:0004325	Decreased body weight	10382	TUBB4A	OMIM:128101
HP:0004325	Decreased body weight	2201	FBN2	ORPHA:115
HP:0004325	Decreased body weight	3106	HLA-B	ORPHA:397
HP:0004325	Decreased body weight	3106	HLA-B	ORPHA:117
HP:0004325	Decreased body weight	3106	HLA-B	ORPHA:29207
HP:0004325	Decreased body weight	3106	HLA-B	ORPHA:36426
HP:0004325	Decreased body weight	3106	HLA-B	ORPHA:3287
HP:0004325	Decreased body weight	3123	HLA-DRB1	ORPHA:397
HP:0004325	Decreased body weight	3123	HLA-DRB1	ORPHA:703
HP:0004325	Decreased body weight	3123	HLA-DRB1	ORPHA:545
HP:0004325	Decreased body weight	3123	HLA-DRB1	ORPHA:536
HP:0004325	Decreased body weight	3123	HLA-DRB1	ORPHA:797
HP:0004325	Decreased body weight	3123	HLA-DRB1	ORPHA:747
HP:0004325	Decreased body weight	3123	HLA-DRB1	OMIM:181000
HP:0004325	Decreased body weight	8974	P4HA2	ORPHA:397
HP:0004325	Decreased body weight	3064	HTT	ORPHA:399
HP:0004325	Decreased body weight	3064	HTT	ORPHA:248111
HP:0004325	Decreased body weight	6515	SLC2A3	ORPHA:399
HP:0004325	Decreased body weight	54790	TET2	ORPHA:98850
HP:0004325	Decreased body weight	54790	TET2	ORPHA:98849
HP:0004325	Decreased body weight	861	RUNX1	ORPHA:98850
HP:0004325	Decreased body weight	6427	SRSF2	ORPHA:98850
HP:0004325	Decreased body weight	6427	SRSF2	ORPHA:98849
HP:0004325	Decreased body weight	4352	MPL	ORPHA:71493
HP:0004325	Decreased body weight	7066	THPO	ORPHA:71493
HP:0004325	Decreased body weight	3717	JAK2	ORPHA:71493
HP:0004325	Decreased body weight	3717	JAK2	ORPHA:729
HP:0004325	Decreased body weight	3717	JAK2	ORPHA:131
HP:0004325	Decreased body weight	6622	SNCA	OMIM:605543
HP:0004325	Decreased body weight	6622	SNCA	ORPHA:411602
HP:0004325	Decreased body weight	3815	KIT	ORPHA:98849
HP:0004325	Decreased body weight	5314	PKHD1	ORPHA:53035
HP:0004325	Decreased body weight	4292	MLH1	ORPHA:144
HP:0004325	Decreased body weight	5395	PMS2	ORPHA:144
HP:0004325	Decreased body weight	7048	TGFBR2	ORPHA:144
HP:0004325	Decreased body weight	2956	MSH6	ORPHA:144
HP:0004325	Decreased body weight	5378	PMS1	ORPHA:144
HP:0004325	Decreased body weight	4436	MSH2	ORPHA:144
HP:0004325	Decreased body weight	4893	NRAS	ORPHA:389
HP:0004325	Decreased body weight	215	ABCD1	ORPHA:388
HP:0004325	Decreased body weight	2668	GDNF	ORPHA:388
HP:0004325	Decreased body weight	6608	SMO	ORPHA:388
HP:0004325	Decreased body weight	1889	ECE1	ORPHA:388
HP:0004325	Decreased body weight	6720	SREBF1	ORPHA:388
HP:0004325	Decreased body weight	1908	EDN3	ORPHA:388
HP:0004325	Decreased body weight	223117	SEMA3D	ORPHA:388
HP:0004325	Decreased body weight	538	ATP7A	ORPHA:388
HP:0004325	Decreased body weight	1910	EDNRB	ORPHA:388
HP:0004325	Decreased body weight	10512	SEMA3C	ORPHA:388
HP:0004325	Decreased body weight	2064	ERBB2	ORPHA:388
HP:0004325	Decreased body weight	2065	ERBB3	ORPHA:388
HP:0004325	Decreased body weight	4902	NRTN	ORPHA:388
HP:0004325	Decreased body weight	1639	DCTN1	ORPHA:178509
HP:0004325	Decreased body weight	1639	DCTN1	ORPHA:803
HP:0004325	Decreased body weight	1639	DCTN1	OMIM:168605
HP:0004325	Decreased body weight	79577	CDC73	ORPHA:143
HP:0004325	Decreased body weight	2130	EWSR1	ORPHA:83469
HP:0004325	Decreased body weight	7490	WT1	ORPHA:83469
HP:0004325	Decreased body weight	7490	WT1	ORPHA:654
HP:0004325	Decreased body weight	64218	SEMA4A	ORPHA:440437
HP:0004325	Decreased body weight	4595	MUTYH	ORPHA:440437
HP:0004325	Decreased body weight	5424	POLD1	ORPHA:440437
HP:0004325	Decreased body weight	11200	CHEK2	ORPHA:440437
HP:0004325	Decreased body weight	11200	CHEK2	ORPHA:668
HP:0004325	Decreased body weight	9244	CRLF1	ORPHA:930
HP:0004325	Decreased body weight	4842	NOS1	ORPHA:930
HP:0004325	Decreased body weight	3980	LIG3	ORPHA:298
HP:0004325	Decreased body weight	6772	STAT1	OMIM:614162
HP:0004325	Decreased body weight	2859	GPR35	ORPHA:171
HP:0004325	Decreased body weight	10507	SEMA4D	ORPHA:171
HP:0004325	Decreased body weight	4485	MST1	ORPHA:171
HP:0004325	Decreased body weight	2034	EPAS1	ORPHA:276621
HP:0004325	Decreased body weight	29967	LRP12	OMIM:164310
HP:0004325	Decreased body weight	29967	LRP12	ORPHA:98897
HP:0004325	Decreased body weight	10459	MAD2L2	ORPHA:84
HP:0004325	Decreased body weight	7516	XRCC2	ORPHA:84
HP:0004325	Decreased body weight	29089	UBE2T	ORPHA:84
HP:0004325	Decreased body weight	55120	FANCL	ORPHA:84
HP:0004325	Decreased body weight	2187	FANCB	ORPHA:84
HP:0004325	Decreased body weight	2189	FANCG	ORPHA:84
HP:0004325	Decreased body weight	5888	RAD51	ORPHA:84
HP:0004325	Decreased body weight	5889	RAD51C	ORPHA:84
HP:0004325	Decreased body weight	55159	RFWD3	ORPHA:84
HP:0004325	Decreased body weight	83990	BRIP1	ORPHA:84
HP:0004325	Decreased body weight	57697	FANCM	ORPHA:84
HP:0004325	Decreased body weight	84464	SLX4	ORPHA:84
HP:0004325	Decreased body weight	5621	PRNP	OMIM:600072
HP:0004325	Decreased body weight	5621	PRNP	ORPHA:466
HP:0004325	Decreased body weight	5621	PRNP	ORPHA:157941
HP:0004325	Decreased body weight	5621	PRNP	OMIM:137440
HP:0004325	Decreased body weight	84133	ZNRF3	ORPHA:1501
HP:0004325	Decreased body weight	7157	TP53	ORPHA:1501
HP:0004325	Decreased body weight	7157	TP53	ORPHA:668
HP:0004325	Decreased body weight	7157	TP53	ORPHA:1333
HP:0004325	Decreased body weight	1029	CDKN2A	ORPHA:1501
HP:0004325	Decreased body weight	1029	CDKN2A	ORPHA:1333
HP:0004325	Decreased body weight	2626	GATA4	ORPHA:251071
HP:0004325	Decreased body weight	22	ABCB7	OMIM:301310
HP:0004325	Decreased body weight	64127	NOD2	OMIM:617321
HP:0004325	Decreased body weight	64127	NOD2	OMIM:266600
HP:0004325	Decreased body weight	23230	VPS13A	ORPHA:2388
HP:0004325	Decreased body weight	57338	JPH3	ORPHA:98934
HP:0004325	Decreased body weight	57338	JPH3	OMIM:606438
HP:0004325	Decreased body weight	2313	FLI1	ORPHA:370348
HP:0004325	Decreased body weight	595	CCND1	ORPHA:52416
HP:0004325	Decreased body weight	595	CCND1	ORPHA:29073
HP:0004325	Decreased body weight	3492	IGH	ORPHA:52416
HP:0004325	Decreased body weight	3492	IGH	ORPHA:52417
HP:0004325	Decreased body weight	3492	IGH	ORPHA:545
HP:0004325	Decreased body weight	330	BIRC3	ORPHA:52417
HP:0004325	Decreased body weight	8915	BCL10	ORPHA:52417
HP:0004325	Decreased body weight	1743	DLST	ORPHA:29072
HP:0004325	Decreased body weight	6389	SDHA	ORPHA:29072
HP:0004325	Decreased body weight	6389	SDHA	ORPHA:3208
HP:0004325	Decreased body weight	8402	SLC25A11	ORPHA:29072
HP:0004325	Decreased body weight	54949	SDHAF2	ORPHA:29072
HP:0004325	Decreased body weight	55654	TMEM127	ORPHA:29072
HP:0004325	Decreased body weight	4763	NF1	ORPHA:29072
HP:0004325	Decreased body weight	4149	MAX	ORPHA:29072
HP:0004325	Decreased body weight	1493	CTLA4	ORPHA:900
HP:0004325	Decreased body weight	1493	CTLA4	ORPHA:2584
HP:0004325	Decreased body weight	1493	CTLA4	ORPHA:536
HP:0004325	Decreased body weight	3115	HLA-DPB1	ORPHA:900
HP:0004325	Decreased body weight	3115	HLA-DPB1	ORPHA:133
HP:0004325	Decreased body weight	5657	PRTN3	ORPHA:900
HP:0004325	Decreased body weight	3113	HLA-DPA1	ORPHA:900
HP:0004325	Decreased body weight	100134444	KCNJ18	ORPHA:79102
HP:0004325	Decreased body weight	100134444	KCNJ18	OMIM:613239
HP:0004325	Decreased body weight	2556	GABRA3	ORPHA:79102
HP:0004325	Decreased body weight	779	CACNA1S	ORPHA:79102
HP:0004325	Decreased body weight	779	CACNA1S	OMIM:188580
HP:0004325	Decreased body weight	7276	TTR	ORPHA:85447
HP:0004325	Decreased body weight	4665	NAB2	ORPHA:2126
HP:0004325	Decreased body weight	6778	STAT6	ORPHA:2126
HP:0004325	Decreased body weight	8314	BAP1	ORPHA:50251
HP:0004325	Decreased body weight	1962	EHHADH	ORPHA:3337
HP:0004325	Decreased body weight	137682	NDUFAF6	ORPHA:3337
HP:0004325	Decreased body weight	38	ACAT1	ORPHA:134
HP:0004325	Decreased body weight	811	CALR	ORPHA:131
HP:0004325	Decreased body weight	2153	F5	ORPHA:131
HP:0004325	Decreased body weight	11330	CTRC	ORPHA:103918
HP:0004325	Decreased body weight	6690	SPINK1	ORPHA:103918
HP:0004325	Decreased body weight	84868	HAVCR2	ORPHA:86884
HP:0004325	Decreased body weight	10661	KLF1	OMIM:613673
HP:0004325	Decreased body weight	644096	SDHAF1	ORPHA:3208
HP:0004325	Decreased body weight	654	BMP6	ORPHA:465508
HP:0004325	Decreased body weight	3586	IL10	OMIM:180300
HP:0004325	Decreased body weight	3586	IL10	ORPHA:117
HP:0004325	Decreased body weight	3586	IL10	ORPHA:536
HP:0004325	Decreased body weight	6583	SLC22A4	OMIM:180300
HP:0004325	Decreased body weight	51744	CD244	OMIM:180300
HP:0004325	Decreased body weight	4795	NFKBIL1	OMIM:180300
HP:0004325	Decreased body weight	25978	CHMP2B	ORPHA:803
HP:0004325	Decreased body weight	3178	HNRNPA1	ORPHA:803
HP:0004325	Decreased body weight	8148	TAF15	ORPHA:803
HP:0004325	Decreased body weight	5445	PON2	ORPHA:803
HP:0004325	Decreased body weight	9217	VAPB	ORPHA:803
HP:0004325	Decreased body weight	8878	SQSTM1	ORPHA:803
HP:0004325	Decreased body weight	5630	PRPH	ORPHA:803
HP:0004325	Decreased body weight	29110	TBK1	ORPHA:803
HP:0004325	Decreased body weight	55830	GLT8D1	ORPHA:803
HP:0004325	Decreased body weight	755	CFAP410	ORPHA:803
HP:0004325	Decreased body weight	10891	PPARGC1A	ORPHA:803
HP:0004325	Decreased body weight	6647	SOD1	ORPHA:803
HP:0004325	Decreased body weight	10133	OPTN	ORPHA:803
HP:0004325	Decreased body weight	5444	PON1	ORPHA:803
HP:0004325	Decreased body weight	5446	PON3	ORPHA:803
HP:0004325	Decreased body weight	4744	NEFH	ORPHA:803
HP:0004325	Decreased body weight	5216	PFN1	ORPHA:803
HP:0004325	Decreased body weight	9782	MATR3	ORPHA:803
HP:0004325	Decreased body weight	54209	TREM2	ORPHA:803
HP:0004325	Decreased body weight	7415	VCP	ORPHA:803
HP:0004325	Decreased body weight	283	ANG	ORPHA:803
HP:0004325	Decreased body weight	23435	TARDBP	ORPHA:803
HP:0004325	Decreased body weight	29978	UBQLN2	ORPHA:803
HP:0004325	Decreased body weight	2733	GLE1	ORPHA:803
HP:0004325	Decreased body weight	2521	FUS	ORPHA:803
HP:0004325	Decreased body weight	4750	NEK1	ORPHA:803
HP:0004325	Decreased body weight	6311	ATXN2	ORPHA:803
HP:0004325	Decreased body weight	1610	DAO	ORPHA:803
HP:0004325	Decreased body weight	2066	ERBB4	ORPHA:803
HP:0004325	Decreased body weight	311	ANXA11	ORPHA:803
HP:0004325	Decreased body weight	23025	UNC13A	ORPHA:803
HP:0004325	Decreased body weight	899	CCNF	ORPHA:803
HP:0004325	Decreased body weight	400916	CHCHD10	ORPHA:803
HP:0004325	Decreased body weight	2000	ELF4	OMIM:301074
HP:0004325	Decreased body weight	546	ATRX	ORPHA:100075
HP:0004325	Decreased body weight	10568	SLC34A2	ORPHA:60025
HP:0004325	Decreased body weight	80025	PANK2	ORPHA:216866
HP:0004325	Decreased body weight	567	B2M	OMIM:620659
HP:0004325	Decreased body weight	940	CD28	ORPHA:2584
HP:0004325	Decreased body weight	7133	TNFRSF1B	ORPHA:2584
HP:0004325	Decreased body weight	165918	RNF168	ORPHA:420741
HP:0004325	Decreased body weight	149233	IL23R	ORPHA:117
HP:0004325	Decreased body weight	4210	MEFV	ORPHA:117
HP:0004325	Decreased body weight	1230	CCR1	ORPHA:117
HP:0004325	Decreased body weight	355	FAS	ORPHA:117
HP:0004325	Decreased body weight	3592	IL12A	ORPHA:117
HP:0004325	Decreased body weight	101928376	IL12A-AS1	ORPHA:117
HP:0004325	Decreased body weight	7099	TLR4	ORPHA:117
HP:0004325	Decreased body weight	3459	IFNGR1	ORPHA:117
HP:0004325	Decreased body weight	3459	IFNGR1	OMIM:209950
HP:0004325	Decreased body weight	720	C4A	ORPHA:117
HP:0004325	Decreased body weight	720	C4A	ORPHA:536
HP:0004325	Decreased body weight	337867	UBAC2	ORPHA:117
HP:0004325	Decreased body weight	51752	ERAP1	ORPHA:117
HP:0004325	Decreased body weight	8302	KLRC4	ORPHA:117
HP:0004325	Decreased body weight	3848	KRT1	ORPHA:312
HP:0004325	Decreased body weight	3155	HMGCL	ORPHA:20
HP:0004325	Decreased body weight	596	BCL2	ORPHA:545
HP:0004325	Decreased body weight	604	BCL6	ORPHA:545
HP:0004325	Decreased body weight	5925	RB1	ORPHA:668
HP:0004325	Decreased body weight	5978	REST	ORPHA:654
HP:0004325	Decreased body weight	129563	DIS3L2	ORPHA:654
HP:0004325	Decreased body weight	9319	TRIP13	ORPHA:654
HP:0004325	Decreased body weight	10155	TRIM28	ORPHA:654
HP:0004325	Decreased body weight	11281	POU6F2	ORPHA:654
HP:0004325	Decreased body weight	2719	GPC3	ORPHA:654
HP:0004325	Decreased body weight	2215	FCGR3B	ORPHA:536
HP:0004325	Decreased body weight	3684	ITGAM	ORPHA:536
HP:0004325	Decreased body weight	221895	JAZF1	ORPHA:536
HP:0004325	Decreased body weight	11277	TREX1	ORPHA:536
HP:0004325	Decreased body weight	7292	TNFSF4	ORPHA:536
HP:0004325	Decreased body weight	640	BLK	ORPHA:536
HP:0004325	Decreased body weight	55024	BANK1	ORPHA:536
HP:0004325	Decreased body weight	3500	IGHG1	ORPHA:536
HP:0004325	Decreased body weight	3654	IRAK1	ORPHA:536
HP:0004325	Decreased body weight	1380	CR2	ORPHA:536
HP:0004325	Decreased body weight	5133	PDCD1	ORPHA:536
HP:0004325	Decreased body weight	2113	ETS1	ORPHA:536
HP:0004325	Decreased body weight	2213	FCGR2B	ORPHA:536
HP:0004325	Decreased body weight	10318	TNIP1	ORPHA:536
HP:0004325	Decreased body weight	7332	UBE2L3	ORPHA:536
HP:0004325	Decreased body weight	79932	KIAA0319L	ORPHA:536
HP:0004325	Decreased body weight	3663	IRF5	ORPHA:536
HP:0004325	Decreased body weight	721	C4B	ORPHA:536
HP:0004325	Decreased body weight	1773	DNASE1	ORPHA:536
HP:0004325	Decreased body weight	51284	TLR7	ORPHA:536
HP:0004325	Decreased body weight	6696	SPP1	ORPHA:536
HP:0004325	Decreased body weight	54899	PXK	ORPHA:536
HP:0004325	Decreased body weight	7128	TNFAIP3	ORPHA:536
HP:0004325	Decreased body weight	10320	IKZF1	ORPHA:36426
HP:0004325	Decreased body weight	23317	DNAJC13	ORPHA:411602
HP:0004325	Decreased body weight	1981	EIF4G1	ORPHA:411602
HP:0004325	Decreased body weight	55737	VPS35	ORPHA:411602
HP:0004325	Decreased body weight	120892	LRRK2	ORPHA:411602
HP:0004325	Decreased body weight	26058	GIGYF2	ORPHA:411602
HP:0004325	Decreased body weight	3141	HLCS	ORPHA:79242
HP:0004325	Decreased body weight	3569	IL6	OMIM:266600
HP:0004325	Decreased body weight	64072	CDH23	ORPHA:91347
HP:0004325	Decreased body weight	285282	RABL3	ORPHA:1333
HP:0004325	Decreased body weight	23022	PALLD	ORPHA:1333
HP:0004325	Decreased body weight	2707	GJB3	ORPHA:317
HP:0004325	Decreased body weight	2531	KDSR	ORPHA:317
HP:0004325	Decreased body weight	127534	GJB4	ORPHA:317
HP:0004325	Decreased body weight	56244	BTNL2	ORPHA:797
HP:0004325	Decreased body weight	353116	RILPL1	ORPHA:98897
HP:0004325	Decreased body weight	10755	GIPC1	ORPHA:98897
HP:0004325	Decreased body weight	100996717	NOTCH2NLC	ORPHA:98897
HP:0004325	Decreased body weight	29926	GMPPA	ORPHA:869
HP:0004325	Decreased body weight	60684	TRAPPC11	ORPHA:869
HP:0004325	Decreased body weight	8086	AAAS	ORPHA:869
HP:0004325	Decreased body weight	10269	ZMPSTE24	ORPHA:740
HP:0004325	Decreased body weight	6340	SCNN1G	ORPHA:171876
HP:0004325	Decreased body weight	6338	SCNN1B	ORPHA:171876
HP:0004325	Decreased body weight	4221	MEN1	ORPHA:652
HP:0004325	Decreased body weight	1027	CDKN1B	ORPHA:652
HP:0004325	Decreased body weight	1026	CDKN1A	ORPHA:652
HP:0004325	Decreased body weight	1030	CDKN2B	ORPHA:652
HP:0004325	Decreased body weight	1031	CDKN2C	ORPHA:652
HP:0004325	Decreased body weight	551	AVP	ORPHA:30925
HP:0004325	Decreased body weight	79651	RHBDF2	ORPHA:2198
HP:0004325	Decreased body weight	2624	GATA2	ORPHA:228423
HP:0004325	Decreased body weight	3593	IL12B	ORPHA:3287
HP:0004325	Decreased body weight	6945	MLX	ORPHA:3287
HP:0004325	Decreased body weight	6850	SYK	OMIM:619381
HP:0004325	Decreased body weight	5371	PML	ORPHA:520
HP:0004325	Decreased body weight	5914	RARA	ORPHA:520
HP:0004325	Decreased body weight	359948	IRF2BP2	ORPHA:520
HP:0004325	Decreased body weight	81608	FIP1L1	ORPHA:520
HP:0004325	Decreased body weight	4869	NPM1	ORPHA:520
HP:0004325	Decreased body weight	64859	NABP1	ORPHA:520
HP:0004325	Decreased body weight	4926	NUMA1	ORPHA:520
HP:0004325	Decreased body weight	7704	ZBTB16	ORPHA:520
HP:0004325	Decreased body weight	4613	MYCN	ORPHA:635
HP:0004325	Decreased body weight	238	ALK	ORPHA:635
HP:0004325	Decreased body weight	389421	LIN28B	ORPHA:635
HP:0004325	Decreased body weight	4004	LMO1	ORPHA:635
HP:0004325	Decreased body weight	57531	HACE1	ORPHA:635
HP:0004325	Decreased body weight	81848	SPRY4	ORPHA:432
HP:0004325	Decreased body weight	60675	PROK2	ORPHA:432
HP:0004325	Decreased body weight	6870	TACR3	ORPHA:432
HP:0004325	Decreased body weight	1848	DUSP6	ORPHA:432
HP:0004325	Decreased body weight	26012	NSMF	ORPHA:432
HP:0004325	Decreased body weight	4808	NHLH2	ORPHA:432
HP:0004325	Decreased body weight	9394	HS6ST1	ORPHA:432
HP:0004325	Decreased body weight	2796	GNRH1	ORPHA:432
HP:0004325	Decreased body weight	2798	GNRHR	ORPHA:432
HP:0004325	Decreased body weight	84634	KISS1R	ORPHA:432
HP:0004325	Decreased body weight	6866	TAC3	ORPHA:432
HP:0004325	Decreased body weight	8822	FGF17	ORPHA:432
HP:0004325	Decreased body weight	3814	KISS1	ORPHA:432
HP:0004325	Decreased body weight	3730	ANOS1	OMIM:308700
HP:0004325	Decreased body weight	2100	ESR2	OMIM:618187
HP:0004325	Decreased body weight	1588	CYP19A1	ORPHA:91
HP:0004325	Decreased body weight	64132	XYLT2	OMIM:605822
HP:0004325	Decreased body weight	51574	LARP7	OMIM:615071
HP:0004325	Decreased body weight	23141	ANKLE2	OMIM:616681
HP:0004325	Decreased body weight	10785	WDR4	OMIM:618346
HP:0004325	Decreased body weight	10785	WDR4	OMIM:618347
HP:0004325	Decreased body weight	151648	SGO1	OMIM:616201
HP:0004325	Decreased body weight	83932	SPRTN	OMIM:616200
HP:0004325	Decreased body weight	23019	CNOT1	OMIM:619033
HP:0004325	Decreased body weight	1763	DNA2	OMIM:620819
HP:0004325	Decreased body weight	54517	PUS7	OMIM:618342
HP:0004325	Decreased body weight	8573	CASK	OMIM:300749
HP:0004325	Decreased body weight	2629	GBA1	OMIM:608013
HP:0004325	Decreased body weight	2629	GBA1	OMIM:231000
HP:0004325	Decreased body weight	5324	PLAG1	OMIM:618907
HP:0004325	Decreased body weight	10084	PQBP1	ORPHA:93950
HP:0004325	Decreased body weight	10084	PQBP1	ORPHA:93945
HP:0004325	Decreased body weight	5745	PTH1R	OMIM:600002
HP:0004325	Decreased body weight	1729	DIAPH1	ORPHA:477814
HP:0004325	Decreased body weight	3481	IGF2	ORPHA:231140
HP:0004325	Decreased body weight	3481	IGF2	OMIM:616489
HP:0004325	Decreased body weight	283120	H19	ORPHA:231140
HP:0004325	Decreased body weight	10479	SLC9A6	OMIM:300243
HP:0004325	Decreased body weight	1294	COL7A1	ORPHA:89842
HP:0004325	Decreased body weight	55215	FANCI	OMIM:609053
HP:0004325	Decreased body weight	25914	RTTN	OMIM:614833
HP:0004325	Decreased body weight	50	ACO2	OMIM:614559
HP:0004325	Decreased body weight	4286	MITF	OMIM:617306
HP:0004325	Decreased body weight	2067	ERCC1	OMIM:610758
HP:0004325	Decreased body weight	3908	LAMA2	ORPHA:258
HP:0004325	Decreased body weight	55249	YY1AP1	OMIM:602531
HP:0004325	Decreased body weight	6197	RPS6KA3	OMIM:303600
HP:0004325	Decreased body weight	64135	IFIH1	OMIM:182250
HP:0004325	Decreased body weight	57190	SELENON	OMIM:602771
HP:0004325	Decreased body weight	4784	NFIX	OMIM:602535
HP:0004325	Decreased body weight	79868	ALG13	ORPHA:324422
HP:0004325	Decreased body weight	254394	MCM9	OMIM:616185
HP:0004325	Decreased body weight	54453	RIN2	OMIM:613075
HP:0004325	Decreased body weight	25885	POLR1A	OMIM:616462
HP:0004325	Decreased body weight	7343	UBTF	OMIM:617672
HP:0004325	Decreased body weight	2072	ERCC4	OMIM:278760
HP:0004325	Decreased body weight	83987	CCDC8	OMIM:614205
HP:0004325	Decreased body weight	3858	KRT10	OMIM:609165
HP:0004325	Decreased body weight	7703	PCGF2	OMIM:618371
HP:0004325	Decreased body weight	3479	IGF1	OMIM:608747
HP:0004325	Decreased body weight	1327	COX4I1	OMIM:619060
HP:0004325	Decreased body weight	1760	DMPK	ORPHA:589821
HP:0004325	Decreased body weight	271	AMPD2	ORPHA:401805
HP:0004325	Decreased body weight	372	ARCN1	OMIM:617164
HP:0004325	Decreased body weight	7156	TOP3A	OMIM:618097
HP:0004325	Decreased body weight	4174	MCM5	OMIM:617564
HP:0004325	Decreased body weight	7403	KDM6A	OMIM:300867
HP:0004325	Decreased body weight	649	BMP1	OMIM:614856
HP:0004325	Decreased body weight	6304	SATB1	OMIM:619229
HP:0004325	Decreased body weight	11193	WBP4	OMIM:620852
HP:0004325	Decreased body weight	9419	CRIPT	OMIM:615789
HP:0004325	Decreased body weight	4000	LMNA	ORPHA:79474
HP:0004325	Decreased body weight	55768	NGLY1	OMIM:615273
HP:0004325	Decreased body weight	339983	NAT8L	OMIM:614063
HP:0004325	Decreased body weight	54809	SAMD9	OMIM:617053
HP:0004325	Decreased body weight	57003	CCDC47	OMIM:618268
HP:0004325	Decreased body weight	29081	METTL5	OMIM:618665
HP:0004325	Decreased body weight	29895	MYL11	OMIM:619110
HP:0004325	Decreased body weight	55773	TBC1D23	OMIM:617695
HP:0004325	Decreased body weight	8558	CDK10	OMIM:617694
HP:0004325	Decreased body weight	145173	B3GLCT	OMIM:261540
HP:0004325	Decreased body weight	5530	PPP3CA	OMIM:618265
HP:0004325	Decreased body weight	6711	SPTBN1	OMIM:619475
HP:0004325	Decreased body weight	51633	OTUD6B	OMIM:617452
HP:0004325	Decreased body weight	51633	OTUD6B	ORPHA:505237
HP:0004325	Decreased body weight	3643	INSR	ORPHA:508
HP:0004325	Decreased body weight	80152	CENPT	OMIM:618702
HP:0004325	Decreased body weight	150468	CKAP2L	OMIM:272440
HP:0004325	Decreased body weight	8720	MBTPS1	OMIM:618392
HP:0004325	Decreased body weight	79718	TBL1XR1	OMIM:602342
HP:0004325	Decreased body weight	2316	FLNA	OMIM:300321
HP:0004325	Decreased body weight	54880	BCOR	OMIM:300166
HP:0004325	Decreased body weight	5162	PDHB	ORPHA:255138
HP:0004325	Decreased body weight	8567	MADD	OMIM:619004
HP:0004325	Decreased body weight	8567	MADD	OMIM:619005
HP:0004325	Decreased body weight	8318	CDC45	OMIM:617063
HP:0004325	Decreased body weight	1654	DDX3X	OMIM:300958
HP:0004325	Decreased body weight	3708	ITPR1	OMIM:117360
HP:0004325	Decreased body weight	93587	TRMT10A	ORPHA:391408
HP:0004325	Decreased body weight	84919	PPP1R15B	ORPHA:391408
HP:0004325	Decreased body weight	126792	B3GALT6	OMIM:271640
HP:0004325	Decreased body weight	126792	B3GALT6	OMIM:615349
HP:0004325	Decreased body weight	259266	ASPM	OMIM:608716
HP:0004325	Decreased body weight	8242	KDM5C	OMIM:300534
HP:0004325	Decreased body weight	9968	MED12	OMIM:300895
HP:0004325	Decreased body weight	3739	KCNA4	OMIM:618284
HP:0004325	Decreased body weight	85365	ALG2	OMIM:607906
HP:0004325	Decreased body weight	84231	TRAF7	OMIM:618164
HP:0004325	Decreased body weight	8481	OFD1	OMIM:300804
HP:0004325	Decreased body weight	2806	GOT2	OMIM:618721
HP:0004325	Decreased body weight	55835	CPAP	OMIM:613676
HP:0004325	Decreased body weight	5824	PEX19	OMIM:614886
HP:0004325	Decreased body weight	1788	DNMT3A	OMIM:618724
HP:0004325	Decreased body weight	3339	HSPG2	ORPHA:800
HP:0004325	Decreased body weight	9451	EIF2AK3	ORPHA:1667
HP:0004325	Decreased body weight	506	ATP5F1B	OMIM:620085
HP:0004325	Decreased body weight	4204	MECP2	OMIM:300260
HP:0004325	Decreased body weight	5611	DNAJC3	ORPHA:445062
HP:0004325	Decreased body weight	1804	DPP6	OMIM:616311
HP:0004325	Decreased body weight	83452	RAB33B	OMIM:615222
HP:0004325	Decreased body weight	22930	RAB3GAP1	OMIM:619420
HP:0004325	Decreased body weight	9276	COPB2	OMIM:617800
HP:0004325	Decreased body weight	10892	MALT1	OMIM:615468
HP:0004325	Decreased body weight	529	ATP6V1E1	OMIM:617402
HP:0004325	Decreased body weight	5426	POLE	OMIM:618336
HP:0004325	Decreased body weight	2693	GHSR	ORPHA:314811
HP:0004325	Decreased body weight	27445	PCLO	OMIM:608027
HP:0004325	Decreased body weight	3480	IGF1R	OMIM:270450
HP:0004325	Decreased body weight	27152	INTU	OMIM:617926
HP:0004325	Decreased body weight	90952	ESAM	OMIM:620371
HP:0004325	Decreased body weight	8506	CNTNAP1	OMIM:618186
HP:0004325	Decreased body weight	54832	VPS13C	OMIM:616840
HP:0004325	Decreased body weight	9935	MAFB	ORPHA:2774
HP:0004325	Decreased body weight	4591	TRIM37	ORPHA:2576
HP:0004325	Decreased body weight	80208	SPG11	ORPHA:300605
HP:0004325	Decreased body weight	10280	SIGMAR1	ORPHA:300605
HP:0004325	Decreased body weight	10558	SPTLC1	ORPHA:300605
HP:0004325	Decreased body weight	57679	ALS2	ORPHA:300605
HP:0004325	Decreased body weight	8450	CUL4B	ORPHA:85293
HP:0004325	Decreased body weight	3662	IRF4	ORPHA:3452
HP:0004325	Decreased body weight	34	ACADM	ORPHA:42
HP:0004325	Decreased body weight	6240	RRM1	OMIM:620647
HP:0004325	Decreased body weight	545	ATR	ORPHA:808
HP:0004325	Decreased body weight	5116	PCNT	ORPHA:808
HP:0004325	Decreased body weight	79902	NUP85	ORPHA:808
HP:0004325	Decreased body weight	84126	ATRIP	ORPHA:808
HP:0004325	Decreased body weight	22995	CEP152	ORPHA:808
HP:0004325	Decreased body weight	10733	PLK4	ORPHA:808
HP:0004325	Decreased body weight	4683	NBN	ORPHA:647
HP:0004325	Decreased body weight	10273	STUB1	OMIM:618093
HP:0004325	Decreased body weight	59341	TRPV4	ORPHA:1216
HP:0004325	Decreased body weight	916	CD3E	ORPHA:169160
HP:0004325	Decreased body weight	56172	ANKH	ORPHA:1416
HP:0004324	Increased body weight	11198	SUPT16H	ORPHA:261229
HP:0004324	Increased body weight	57680	CHD8	ORPHA:261229
HP:0004324	Increased body weight	25970	SH2B1	ORPHA:261222
HP:0004324	Increased body weight	25970	SH2B1	ORPHA:329249
HP:0004324	Increased body weight	25970	SH2B1	ORPHA:261197
HP:0004324	Increased body weight	27316	RBMX	OMIM:300238
HP:0004324	Increased body weight	27316	RBMX	ORPHA:85286
HP:0004324	Increased body weight	63036	CELA2A	OMIM:618620
HP:0004324	Increased body weight	5728	PTEN	OMIM:605309
HP:0004324	Increased body weight	583	BBS2	OMIM:616562
HP:0004324	Increased body weight	583	BBS2	ORPHA:110
HP:0004324	Increased body weight	583	BBS2	OMIM:615981
HP:0004324	Increased body weight	11284	PNKP	ORPHA:459033
HP:0004324	Increased body weight	11284	PNKP	OMIM:616267
HP:0004324	Increased body weight	123263	MTFMT	OMIM:614947
HP:0004324	Increased body weight	1788	DNMT3A	ORPHA:404443
HP:0004324	Increased body weight	10159	ATP6AP2	ORPHA:93952
HP:0004324	Increased body weight	23126	POGZ	ORPHA:468678
HP:0004324	Increased body weight	23126	POGZ	OMIM:616364
HP:0004324	Increased body weight	9690	UBE3C	OMIM:620270
HP:0004324	Increased body weight	149775	GNAS-AS1	OMIM:603233
HP:0004324	Increased body weight	8675	STX16	OMIM:603233
HP:0004324	Increased body weight	7552	ZNF711	OMIM:300803
HP:0004324	Increased body weight	54681	P4HTM	ORPHA:436141
HP:0004324	Increased body weight	54681	P4HTM	OMIM:618493
HP:0004324	Increased body weight	2314	FLII	ORPHA:819
HP:0004324	Increased body weight	23096	IQSEC2	ORPHA:819
HP:0004324	Increased body weight	23096	IQSEC2	ORPHA:217377
HP:0004324	Increased body weight	10522	DEAF1	ORPHA:819
HP:0004324	Increased body weight	9915	ARNT2	OMIM:615926
HP:0004324	Increased body weight	9915	ARNT2	ORPHA:3157
HP:0004324	Increased body weight	10908	PNPLA6	OMIM:275400
HP:0004324	Increased body weight	10908	PNPLA6	ORPHA:2377
HP:0004324	Increased body weight	10908	PNPLA6	OMIM:245800
HP:0004324	Increased body weight	55780	ERMARD	ORPHA:75857
HP:0004324	Increased body weight	29072	SETD2	OMIM:620155
HP:0004324	Increased body weight	29072	SETD2	OMIM:616831
HP:0004324	Increased body weight	6926	TBX3	ORPHA:3138
HP:0004324	Increased body weight	6926	TBX3	OMIM:181450
HP:0004324	Increased body weight	1300	COL10A1	ORPHA:174
HP:0004324	Increased body weight	28958	COA3	OMIM:619058
HP:0004324	Increased body weight	9739	SETD1A	OMIM:619056
HP:0004324	Increased body weight	80204	FBXO11	OMIM:618089
HP:0004324	Increased body weight	9692	PRORP	OMIM:619737
HP:0004324	Increased body weight	4160	MC4R	OMIM:618406
HP:0004324	Increased body weight	4160	MC4R	ORPHA:71529
HP:0004324	Increased body weight	3952	LEP	OMIM:614962
HP:0004324	Increased body weight	3952	LEP	ORPHA:66628
HP:0004324	Increased body weight	2770	GNAI1	OMIM:619854
HP:0004324	Increased body weight	22897	CEP164	OMIM:614845
HP:0004324	Increased body weight	3953	LEPR	OMIM:614963
HP:0004324	Increased body weight	3953	LEPR	ORPHA:179494
HP:0004324	Increased body weight	84100	ARL6	OMIM:209900
HP:0004324	Increased body weight	84100	ARL6	ORPHA:110
HP:0004324	Increased body weight	84100	ARL6	OMIM:600151
HP:0004324	Increased body weight	79140	CCDC28B	OMIM:209900
HP:0004324	Increased body weight	582	BBS1	OMIM:209900
HP:0004324	Increased body weight	582	BBS1	ORPHA:110
HP:0004324	Increased body weight	7840	ALMS1	OMIM:203800
HP:0004324	Increased body weight	7840	ALMS1	ORPHA:64
HP:0004324	Increased body weight	1581	CYP7A1	ORPHA:209902
HP:0004324	Increased body weight	2626	GATA4	ORPHA:251071
HP:0004324	Increased body weight	23116	TOGARAM1	OMIM:619185
HP:0004324	Increased body weight	6872	TAF1	ORPHA:480907
HP:0004324	Increased body weight	57531	HACE1	ORPHA:464282
HP:0004324	Increased body weight	57531	HACE1	OMIM:616756
HP:0004324	Increased body weight	6899	TBX1	OMIM:188400
HP:0004324	Increased body weight	6899	TBX1	ORPHA:567
HP:0004324	Increased body weight	1656	DDX6	OMIM:618653
HP:0004324	Increased body weight	80208	SPG11	ORPHA:2822
HP:0004324	Increased body weight	80208	SPG11	OMIM:604360
HP:0004324	Increased body weight	79813	EHMT1	OMIM:610253
HP:0004324	Increased body weight	79813	EHMT1	ORPHA:96147
HP:0004324	Increased body weight	5144	PDE4D	OMIM:614613
HP:0004324	Increased body weight	5144	PDE4D	ORPHA:439822
HP:0004324	Increased body weight	4915	NTRK2	OMIM:613886
HP:0004324	Increased body weight	1954	MEGF8	OMIM:614976
HP:0004324	Increased body weight	1954	MEGF8	ORPHA:65759
HP:0004324	Increased body weight	84984	CEP19	OMIM:615703
HP:0004324	Increased body weight	84984	CEP19	ORPHA:110
HP:0004324	Increased body weight	25942	SIN3A	OMIM:613406
HP:0004324	Increased body weight	25942	SIN3A	ORPHA:94065
HP:0004324	Increased body weight	54496	PRMT7	ORPHA:464288
HP:0004324	Increased body weight	54496	PRMT7	OMIM:617157
HP:0004324	Increased body weight	6197	RPS6KA3	ORPHA:276630
HP:0004324	Increased body weight	5080	PAX6	OMIM:194072
HP:0004324	Increased body weight	5080	PAX6	ORPHA:893
HP:0004324	Increased body weight	7490	WT1	OMIM:194072
HP:0004324	Increased body weight	7490	WT1	ORPHA:893
HP:0004324	Increased body weight	1588	CYP19A1	ORPHA:91
HP:0004324	Increased body weight	30011	SH3KBP1	OMIM:300310
HP:0004324	Increased body weight	92482	BBIP1	ORPHA:110
HP:0004324	Increased body weight	92482	BBIP1	OMIM:615995
HP:0004324	Increased body weight	80184	CEP290	ORPHA:110
HP:0004324	Increased body weight	80184	CEP290	OMIM:615991
HP:0004324	Increased body weight	11020	IFT27	ORPHA:110
HP:0004324	Increased body weight	11020	IFT27	OMIM:615996
HP:0004324	Increased body weight	49855	SCAPER	ORPHA:110
HP:0004324	Increased body weight	4867	NPHP1	ORPHA:110
HP:0004324	Increased body weight	51057	WDPCP	ORPHA:110
HP:0004324	Increased body weight	132320	SCLT1	ORPHA:110
HP:0004324	Increased body weight	27241	BBS9	ORPHA:110
HP:0004324	Increased body weight	27241	BBS9	OMIM:615986
HP:0004324	Increased body weight	22954	TRIM32	ORPHA:110
HP:0004324	Increased body weight	22954	TRIM32	OMIM:615988
HP:0004324	Increased body weight	54903	MKS1	ORPHA:110
HP:0004324	Increased body weight	54903	MKS1	OMIM:615990
HP:0004324	Increased body weight	79738	BBS10	ORPHA:110
HP:0004324	Increased body weight	79738	BBS10	OMIM:615987
HP:0004324	Increased body weight	123016	TTC8	ORPHA:110
HP:0004324	Increased body weight	123016	TTC8	OMIM:615985
HP:0004324	Increased body weight	123016	TTC8	OMIM:613464
HP:0004324	Increased body weight	26160	IFT172	ORPHA:110
HP:0004324	Increased body weight	26160	IFT172	OMIM:615630
HP:0004324	Increased body weight	26160	IFT172	OMIM:619471
HP:0004324	Increased body weight	585	BBS4	ORPHA:110
HP:0004324	Increased body weight	585	BBS4	OMIM:615982
HP:0004324	Increased body weight	8195	MKKS	ORPHA:110
HP:0004324	Increased body weight	8195	MKKS	OMIM:605231
HP:0004324	Increased body weight	54585	LZTFL1	ORPHA:110
HP:0004324	Increased body weight	54585	LZTFL1	OMIM:615994
HP:0004324	Increased body weight	55212	BBS7	ORPHA:110
HP:0004324	Increased body weight	55212	BBS7	OMIM:615984
HP:0004324	Increased body weight	166379	BBS12	ORPHA:110
HP:0004324	Increased body weight	166379	BBS12	OMIM:615989
HP:0004324	Increased body weight	10806	SDCCAG8	ORPHA:110
HP:0004324	Increased body weight	10806	SDCCAG8	OMIM:615993
HP:0004324	Increased body weight	157657	CFAP418	ORPHA:110
HP:0004324	Increased body weight	157657	CFAP418	OMIM:617406
HP:0004324	Increased body weight	129880	BBS5	ORPHA:110
HP:0004324	Increased body weight	129880	BBS5	OMIM:615983
HP:0004324	Increased body weight	80173	IFT74	ORPHA:110
HP:0004324	Increased body weight	80173	IFT74	OMIM:617119
HP:0004324	Increased body weight	57498	KIDINS220	ORPHA:521390
HP:0004324	Increased body weight	57498	KIDINS220	OMIM:617296
HP:0004324	Increased body weight	27125	AFF4	OMIM:616368
HP:0004324	Increased body weight	27125	AFF4	ORPHA:444077
HP:0004324	Increased body weight	4808	NHLH2	OMIM:619755
HP:0004324	Increased body weight	6804	STX1A	ORPHA:904
HP:0004324	Increased body weight	7461	CLIP2	ORPHA:904
HP:0004324	Increased body weight	84277	DNAJC30	ORPHA:904
HP:0004324	Increased body weight	8468	FKBP6	ORPHA:904
HP:0004324	Increased body weight	5982	RFC2	ORPHA:904
HP:0004324	Increased body weight	2969	GTF2I	ORPHA:904
HP:0004324	Increased body weight	3984	LIMK1	ORPHA:904
HP:0004324	Increased body weight	9569	GTF2IRD1	ORPHA:904
HP:0004324	Increased body weight	155382	VPS37D	ORPHA:904
HP:0004324	Increased body weight	155368	METTL27	ORPHA:904
HP:0004324	Increased body weight	114049	BUD23	ORPHA:904
HP:0004324	Increased body weight	7458	EIF4H	ORPHA:904
HP:0004324	Increased body weight	84163	GTF2IRD2	ORPHA:904
HP:0004324	Increased body weight	26608	TBL2	ORPHA:904
HP:0004324	Increased body weight	653361	NCF1	ORPHA:904
HP:0004324	Increased body weight	135886	TMEM270	ORPHA:904
HP:0004324	Increased body weight	9031	BAZ1B	ORPHA:904
HP:0004324	Increased body weight	2006	ELN	ORPHA:904
HP:0004324	Increased body weight	2006	ELN	OMIM:194050
HP:0004324	Increased body weight	8314	BAP1	ORPHA:2495
HP:0004324	Increased body weight	4771	NF2	ORPHA:2495
HP:0004324	Increased body weight	6598	SMARCB1	ORPHA:2495
HP:0004324	Increased body weight	5155	PDGFB	ORPHA:2495
HP:0004324	Increased body weight	84231	TRAF7	ORPHA:2495
HP:0004324	Increased body weight	6608	SMO	ORPHA:2495
HP:0004324	Increased body weight	207	AKT1	ORPHA:2495
HP:0004324	Increased body weight	5290	PIK3CA	ORPHA:2495
HP:0004324	Increased body weight	51684	SUFU	ORPHA:2495
HP:0004324	Increased body weight	6605	SMARCE1	ORPHA:2495
HP:0004324	Increased body weight	5590	PRKCZ	ORPHA:1606
HP:0004324	Increased body weight	2563	GABRD	ORPHA:1606
HP:0004324	Increased body weight	23013	SPEN	ORPHA:1606
HP:0004324	Increased body weight	23013	SPEN	OMIM:619312
HP:0004324	Increased body weight	8510	MMP23B	ORPHA:1606
HP:0004324	Increased body weight	7798	LUZP1	ORPHA:1606
HP:0004324	Increased body weight	6497	SKI	ORPHA:1606
HP:0004324	Increased body weight	10630	PDPN	ORPHA:1606
HP:0004324	Increased body weight	3339	HSPG2	ORPHA:1606
HP:0004324	Increased body weight	10277	UBE4B	ORPHA:1606
HP:0004324	Increased body weight	8514	KCNAB2	ORPHA:1606
HP:0004324	Increased body weight	473	RERE	ORPHA:1606
HP:0004324	Increased body weight	63976	PRDM16	ORPHA:1606
HP:0004324	Increased body weight	54897	CASZ1	ORPHA:1606
HP:0004324	Increased body weight	7337	UBE3A	OMIM:105830
HP:0004324	Increased body weight	7337	UBE3A	ORPHA:98794
HP:0004324	Increased body weight	7337	UBE3A	ORPHA:411511
HP:0004324	Increased body weight	7337	UBE3A	ORPHA:411515
HP:0004324	Increased body weight	6638	SNRPN	OMIM:105830
HP:0004324	Increased body weight	6638	SNRPN	ORPHA:98754
HP:0004324	Increased body weight	6638	SNRPN	ORPHA:177904
HP:0004324	Increased body weight	6638	SNRPN	ORPHA:177901
HP:0004324	Increased body weight	6638	SNRPN	ORPHA:177910
HP:0004324	Increased body weight	6638	SNRPN	ORPHA:177907
HP:0004324	Increased body weight	6638	SNRPN	ORPHA:411515
HP:0004324	Increased body weight	100134444	KCNJ18	ORPHA:79102
HP:0004324	Increased body weight	2556	GABRA3	ORPHA:79102
HP:0004324	Increased body weight	779	CACNA1S	ORPHA:79102
HP:0004324	Increased body weight	55027	HEATR3	OMIM:620072
HP:0004324	Increased body weight	283209	PGM2L1	OMIM:620191
HP:0004324	Increased body weight	5244	ABCB4	ORPHA:69663
HP:0004324	Increased body weight	4089	SMAD4	OMIM:139210
HP:0004324	Increased body weight	130340	AP1S3	ORPHA:247353
HP:0004324	Increased body weight	26525	IL36RN	ORPHA:247353
HP:0004324	Increased body weight	8481	OFD1	OMIM:300209
HP:0004324	Increased body weight	8481	OFD1	OMIM:300804
HP:0004324	Increased body weight	6942	TCF20	OMIM:618430
HP:0004324	Increased body weight	57466	SCAF4	OMIM:620511
HP:0004324	Increased body weight	51085	MLXIPL	OMIM:194050
HP:0004324	Increased body weight	4205	MEF2A	OMIM:608320
HP:0004324	Increased body weight	6473	SHOX	ORPHA:314795
HP:0004324	Increased body weight	124583	CANT1	OMIM:251450
HP:0004324	Increased body weight	4692	NDN	ORPHA:98754
HP:0004324	Increased body weight	4692	NDN	ORPHA:177904
HP:0004324	Increased body weight	4692	NDN	ORPHA:177901
HP:0004324	Increased body weight	4692	NDN	ORPHA:177910
HP:0004324	Increased body weight	4948	OCA2	ORPHA:98754
HP:0004324	Increased body weight	4948	OCA2	ORPHA:98794
HP:0004324	Increased body weight	4948	OCA2	ORPHA:177904
HP:0004324	Increased body weight	4948	OCA2	ORPHA:177901
HP:0004324	Increased body weight	7030	TFE3	OMIM:301066
HP:0004324	Increased body weight	5122	PCSK1	OMIM:600955
HP:0004324	Increased body weight	5122	PCSK1	ORPHA:71528
HP:0004324	Increased body weight	23162	MAPK8IP3	OMIM:618443
HP:0004324	Increased body weight	27086	FOXP1	OMIM:613670
HP:0004324	Increased body weight	26047	CNTNAP2	OMIM:610042
HP:0004324	Increased body weight	26047	CNTNAP2	ORPHA:163681
HP:0004324	Increased body weight	81887	LAS1L	OMIM:309585
HP:0004324	Increased body weight	51322	WAC	ORPHA:466950
HP:0004324	Increased body weight	51199	NIN	ORPHA:319675
HP:0004324	Increased body weight	2273	FHL1	ORPHA:98863
HP:0004324	Increased body weight	2010	EMD	ORPHA:98863
HP:0004324	Increased body weight	23590	PDSS1	OMIM:614651
HP:0004324	Increased body weight	1642	DDB1	OMIM:619426
HP:0004324	Increased body weight	5908	RAP1B	OMIM:620654
HP:0004324	Increased body weight	4000	LMNA	ORPHA:98855
HP:0004324	Increased body weight	4000	LMNA	ORPHA:98853
HP:0004324	Increased body weight	4000	LMNA	OMIM:151660
HP:0004324	Increased body weight	2260	FGFR1	ORPHA:478
HP:0004324	Increased body weight	2260	FGFR1	ORPHA:3157
HP:0004324	Increased body weight	10371	SEMA3A	ORPHA:478
HP:0004324	Increased body weight	81848	SPRY4	ORPHA:478
HP:0004324	Increased body weight	23767	FLRT3	ORPHA:478
HP:0004324	Increased body weight	128674	PROKR2	ORPHA:478
HP:0004324	Increased body weight	128674	PROKR2	ORPHA:3157
HP:0004324	Increased body weight	79625	NDNF	ORPHA:478
HP:0004324	Increased body weight	2253	FGF8	ORPHA:478
HP:0004324	Increased body weight	389549	FEZF1	ORPHA:478
HP:0004324	Increased body weight	1630	DCC	ORPHA:478
HP:0004324	Increased body weight	3730	ANOS1	ORPHA:478
HP:0004324	Increased body weight	54756	IL17RD	ORPHA:478
HP:0004324	Increased body weight	6663	SOX10	ORPHA:478
HP:0004324	Increased body weight	285025	CCDC141	ORPHA:478
HP:0004324	Increased body weight	60675	PROK2	ORPHA:478
HP:0004324	Increased body weight	60675	PROK2	OMIM:610628
HP:0004324	Increased body weight	55636	CHD7	ORPHA:478
HP:0004324	Increased body weight	1848	DUSP6	ORPHA:478
HP:0004324	Increased body weight	6870	TACR3	ORPHA:478
HP:0004324	Increased body weight	55717	WDR11	ORPHA:478
HP:0004324	Increased body weight	9394	HS6ST1	ORPHA:478
HP:0004324	Increased body weight	8820	HESX1	ORPHA:478
HP:0004324	Increased body weight	8820	HESX1	ORPHA:3157
HP:0004324	Increased body weight	8822	FGF17	ORPHA:478
HP:0004324	Increased body weight	79188	TMEM43	ORPHA:98853
HP:0004324	Increased body weight	23345	SYNE1	ORPHA:98853
HP:0004324	Increased body weight	23224	SYNE2	ORPHA:98853
HP:0004324	Increased body weight	3767	KCNJ11	ORPHA:552
HP:0004324	Increased body weight	8462	KLF11	ORPHA:552
HP:0004324	Increased body weight	2645	GCK	ORPHA:552
HP:0004324	Increased body weight	26060	APPL1	ORPHA:552
HP:0004324	Increased body weight	640	BLK	ORPHA:552
HP:0004324	Increased body weight	640	BLK	OMIM:613375
HP:0004324	Increased body weight	1056	CEL	ORPHA:552
HP:0004324	Increased body weight	4760	NEUROD1	ORPHA:552
HP:0004324	Increased body weight	3651	PDX1	ORPHA:552
HP:0004324	Increased body weight	6833	ABCC8	ORPHA:552
HP:0004324	Increased body weight	5078	PAX4	ORPHA:552
HP:0004324	Increased body weight	6927	HNF1A	ORPHA:552
HP:0004324	Increased body weight	3630	INS	ORPHA:552
HP:0004324	Increased body weight	388015	RTL1	ORPHA:254531
HP:0004324	Increased body weight	388015	RTL1	ORPHA:254525
HP:0004324	Increased body weight	388015	RTL1	ORPHA:96184
HP:0004324	Increased body weight	8788	DLK1	ORPHA:254531
HP:0004324	Increased body weight	8788	DLK1	ORPHA:254525
HP:0004324	Increased body weight	8788	DLK1	ORPHA:96184
HP:0004324	Increased body weight	55384	MEG3	ORPHA:254531
HP:0004324	Increased body weight	55384	MEG3	ORPHA:254525
HP:0004324	Increased body weight	55384	MEG3	ORPHA:96184
HP:0004324	Increased body weight	55217	TMLHE	OMIM:300872
HP:0004324	Increased body weight	2245	FGD1	OMIM:305400
HP:0004324	Increased body weight	6492	SIM1	ORPHA:369873
HP:0004324	Increased body weight	6492	SIM1	ORPHA:171829
HP:0004324	Increased body weight	6492	SIM1	ORPHA:398079
HP:0004324	Increased body weight	91147	TMEM67	OMIM:615991
HP:0004324	Increased body weight	89891	DYNC2I2	OMIM:615633
HP:0004324	Increased body weight	3290	HSD11B1	OMIM:614662
HP:0004324	Increased body weight	23394	ADNP	OMIM:615873
HP:0004324	Increased body weight	9759	HDAC4	ORPHA:1001
HP:0004324	Increased body weight	9759	HDAC4	OMIM:600430
HP:0004324	Increased body weight	5443	POMC	ORPHA:71526
HP:0004324	Increased body weight	5443	POMC	OMIM:609734
HP:0004324	Increased body weight	5443	POMC	OMIM:601665
HP:0004324	Increased body weight	84320	ACBD6	OMIM:620785
HP:0004324	Increased body weight	100033413	SNORD116-1	OMIM:176270
HP:0004324	Increased body weight	8924	HERC2	OMIM:176270
HP:0004324	Increased body weight	23742	NPAP1	OMIM:176270
HP:0004324	Increased body weight	338433	SNORD115-1	OMIM:176270
HP:0004324	Increased body weight	7681	MKRN3	OMIM:176270
HP:0004324	Increased body weight	145624	PWAR1	OMIM:176270
HP:0004324	Increased body weight	3653	IPW	OMIM:176270
HP:0004324	Increased body weight	791114	PWRN1	OMIM:176270
HP:0004324	Increased body weight	5575	PRKAR1B	OMIM:619680
HP:0004324	Increased body weight	1387	CREBBP	ORPHA:353281
HP:0004324	Increased body weight	1387	CREBBP	ORPHA:353277
HP:0004324	Increased body weight	79048	SECISBP2	ORPHA:171706
HP:0004324	Increased body weight	8085	KMT2D	ORPHA:2322
HP:0004324	Increased body weight	8085	KMT2D	OMIM:147920
HP:0004324	Increased body weight	7403	KDM6A	ORPHA:2322
HP:0004324	Increased body weight	7403	KDM6A	OMIM:147920
HP:0004324	Increased body weight	23524	SRRM2	OMIM:620439
HP:0004324	Increased body weight	1363	CPE	OMIM:619326
HP:0004324	Increased body weight	2033	EP300	ORPHA:353284
HP:0004324	Increased body weight	348	APOE	ORPHA:412
HP:0004324	Increased body weight	4204	MECP2	OMIM:300055
HP:0004324	Increased body weight	4204	MECP2	ORPHA:3077
HP:0004324	Increased body weight	8888	MCM3AP	OMIM:618124
HP:0004324	Increased body weight	84068	SLC10A7	OMIM:618363
HP:0004324	Increased body weight	7275	TUB	OMIM:616188
HP:0004324	Increased body weight	11253	MAN1B1	OMIM:614202
HP:0004324	Increased body weight	291	SLC25A4	OMIM:615418
HP:0004324	Increased body weight	26146	TRAF3IP1	OMIM:616629
HP:0004324	Increased body weight	1312	COMT	ORPHA:567
HP:0004324	Increased body weight	221037	JMJD1C	ORPHA:567
HP:0004324	Increased body weight	2812	GP1BB	ORPHA:567
HP:0004324	Increased body weight	6239	RREB1	ORPHA:567
HP:0004324	Increased body weight	7290	HIRA	ORPHA:567
HP:0004324	Increased body weight	9632	SEC24C	ORPHA:567
HP:0004324	Increased body weight	7353	UFD1	ORPHA:567
HP:0004324	Increased body weight	421	ARVCF	ORPHA:567
HP:0004324	Increased body weight	2261	FGFR3	ORPHA:15
HP:0004324	Increased body weight	1760	DMPK	ORPHA:589821
HP:0004324	Increased body weight	26040	SETBP1	OMIM:616078
HP:0004324	Increased body weight	83696	TRAPPC9	ORPHA:352530
HP:0004324	Increased body weight	23395	LARS2	OMIM:615300
HP:0004324	Increased body weight	208	AKT2	OMIM:240900
HP:0004324	Increased body weight	9049	AIP	OMIM:219090
HP:0004324	Increased body weight	6304	SATB1	OMIM:619229
HP:0004324	Increased body weight	51715	RAB23	ORPHA:65759
HP:0004324	Increased body weight	51715	RAB23	OMIM:201000
HP:0004324	Increased body weight	9563	H6PD	OMIM:604931
HP:0004324	Increased body weight	155	ADRB3	OMIM:601665
HP:0004324	Increased body weight	5167	ENPP1	OMIM:601665
HP:0004324	Increased body weight	7352	UCP3	OMIM:601665
HP:0004324	Increased body weight	8431	NR0B2	OMIM:601665
HP:0004324	Increased body weight	9607	CARTPT	OMIM:601665
HP:0004324	Increased body weight	51738	GHRL	OMIM:601665
HP:0004324	Increased body weight	9672	SDC3	OMIM:601665
HP:0004324	Increased body weight	181	AGRP	OMIM:601665
HP:0004324	Increased body weight	5468	PPARG	OMIM:601665
HP:0004324	Increased body weight	157680	VPS13B	ORPHA:193
HP:0004324	Increased body weight	51604	PIGT	ORPHA:369837
HP:0004324	Increased body weight	6711	SPTBN1	OMIM:619475
HP:0004324	Increased body weight	23040	MYT1L	OMIM:616521
HP:0004324	Increased body weight	23040	MYT1L	ORPHA:647799
HP:0004324	Increased body weight	54361	WNT4	ORPHA:247768
HP:0004324	Increased body weight	91461	PKDCC	OMIM:618821
HP:0004324	Increased body weight	8087	FXR1	OMIM:618822
HP:0004324	Increased body weight	63932	STEEP1	OMIM:301013
HP:0004324	Increased body weight	213	ALB	ORPHA:86816
HP:0004324	Increased body weight	200894	ARL13B	OMIM:612291
HP:0004324	Increased body weight	51124	IER3IP1	OMIM:614231
HP:0004324	Increased body weight	23233	EXOC6B	OMIM:618395
HP:0004324	Increased body weight	8450	CUL4B	ORPHA:85293
HP:0004324	Increased body weight	5456	POU3F4	ORPHA:1435
HP:0004324	Increased body weight	627	BDNF	ORPHA:893
HP:0004324	Increased body weight	84295	PHF6	OMIM:301900
HP:0004324	Increased body weight	1512	CTSH	ORPHA:2073
HP:0004324	Increased body weight	5032	P2RY11	ORPHA:2073
HP:0004324	Increased body weight	4340	MOG	ORPHA:2073
HP:0004324	Increased body weight	4340	MOG	OMIM:614250
HP:0004324	Increased body weight	3119	HLA-DQB1	ORPHA:2073
HP:0004324	Increased body weight	3060	HCRT	ORPHA:2073
HP:0004324	Increased body weight	22891	ZNF365	ORPHA:2073
HP:0004324	Increased body weight	7292	TNFSF4	ORPHA:2073
HP:0004324	Increased body weight	3123	HLA-DRB1	ORPHA:2073
HP:0004324	Increased body weight	9320	TRIP12	OMIM:617752
HP:0004324	Increased body weight	1315	COPB1	OMIM:619255
HP:0004324	Increased body weight	51099	ABHD5	ORPHA:98907
HP:0004324	Increased body weight	51317	PHF21A	OMIM:618725
HP:0004324	Increased body weight	57104	PNPLA2	ORPHA:98908
HP:0004324	Increased body weight	1968	EIF2S3	ORPHA:85282
HP:0004324	Increased body weight	1968	EIF2S3	OMIM:300148
HP:0004324	Increased body weight	37	ACADVL	ORPHA:26793
HP:0004324	Increased body weight	23102	TBC1D2B	ORPHA:397973
HP:0004324	Increased body weight	375056	MIA3	OMIM:619269
HP:0004324	Increased body weight	1806	DPYD	ORPHA:293948
HP:0004324	Increased body weight	109	ADCY3	OMIM:617885
HP:0004324	Increased body weight	6736	SRY	ORPHA:1772
HP:0004324	Increased body weight	57194	ATP10A	ORPHA:411515
HP:0004324	Increased body weight	6657	SOX2	ORPHA:3157
HP:0004324	Increased body weight	6658	SOX3	ORPHA:3157
HP:0004324	Increased body weight	5015	OTX2	ORPHA:3157
HP:0004324	Increased body weight	283450	HECTD4	OMIM:620250
HP:0004324	Increased body weight	2737	GLI3	ORPHA:672
HP:0004324	Increased body weight	129563	DIS3L2	OMIM:267000
HP:0004324	Increased body weight	4953	ODC1	OMIM:619075
HP:0004324	Increased body weight	4953	ODC1	ORPHA:544488
HP:0004324	Increased body weight	8036	SHOC2	OMIM:607721
HP:0004324	Increased body weight	8925	HERC1	OMIM:617011
HP:0004324	Increased body weight	8925	HERC1	ORPHA:457359
HP:0004324	Increased body weight	9158	FIBP	ORPHA:500095
HP:0004324	Increased body weight	9158	FIBP	OMIM:617107
HP:0004324	Increased body weight	6016	RIT1	OMIM:615355
HP:0004324	Increased body weight	84282	RNF135	ORPHA:137634
HP:0004324	Increased body weight	5894	RAF1	OMIM:611553
HP:0004324	Increased body weight	54499	TMCO1	OMIM:213980
HP:0004324	Increased body weight	274	BIN1	ORPHA:169189
HP:0004324	Increased body weight	64419	MTMR14	ORPHA:169189
HP:0004324	Increased body weight	4618	MYF6	ORPHA:169189
HP:0004324	Increased body weight	1785	DNM2	ORPHA:169189
HP:0004324	Increased body weight	6261	RYR1	ORPHA:169189
HP:0004324	Increased body weight	10060	ABCC9	OMIM:239850
HP:0004324	Increased body weight	23405	DICER1	OMIM:618272
HP:0004324	Increased body weight	58508	KMT2C	ORPHA:261652
HP:0004324	Increased body weight	288	ANK3	ORPHA:356996
HP:0004324	Increased body weight	23556	PIGN	OMIM:614080
HP:0004324	Increased body weight	9487	PIGL	OMIM:280000
HP:0004324	Increased body weight	5727	PTCH1	ORPHA:77301
HP:0004324	Increased body weight	139886	SPIN4	OMIM:301114
HP:0004324	Increased body weight	1910	EDNRB	OMIM:600501
HP:0004324	Increased body weight	5277	PIGA	OMIM:300868
HP:0004324	Increased body weight	7543	ZFX	OMIM:301118
HP:0004324	Increased body weight	3340	NDST1	OMIM:616116
HP:0004324	Increased body weight	2475	MTOR	ORPHA:457485
HP:0004324	Increased body weight	2475	MTOR	OMIM:616638
HP:0004324	Increased body weight	7351	UCP2	ORPHA:276556
HP:0004324	Increased body weight	6654	SOS1	OMIM:610733
HP:0004324	Increased body weight	23476	BRD4	ORPHA:199
HP:0004324	Increased body weight	9126	SMC3	ORPHA:199
HP:0004324	Increased body weight	8243	SMC1A	ORPHA:199
HP:0004324	Increased body weight	6878	TAF6	ORPHA:199
HP:0004324	Increased body weight	25836	NIPBL	ORPHA:199
HP:0004324	Increased body weight	55869	HDAC8	ORPHA:199
HP:0004324	Increased body weight	55869	HDAC8	OMIM:300882
HP:0004324	Increased body weight	55869	HDAC8	ORPHA:3459
HP:0004324	Increased body weight	5885	RAD21	ORPHA:199
HP:0004324	Increased body weight	3479	IGF1	ORPHA:73272
HP:0004324	Increased body weight	26137	ZBTB20	OMIM:259050
HP:0004324	Increased body weight	755	CFAP410	OMIM:617547
HP:0004324	Increased body weight	23187	PHLDB1	OMIM:620639
HP:0004324	Increased body weight	56623	INPP5E	OMIM:610156
HP:0004324	Increased body weight	56623	INPP5E	ORPHA:75858
HP:0004324	Increased body weight	55599	RNPC3	OMIM:618160
HP:0004324	Increased body weight	2332	FMR1	ORPHA:261483
HP:0004324	Increased body weight	7518	XRCC4	OMIM:616541
HP:0004324	Increased body weight	3483	IGFALS	ORPHA:140941
HP:0004324	Increased body weight	5116	PCNT	ORPHA:2637
HP:0004324	Increased body weight	5116	PCNT	OMIM:210720
HP:0004324	Increased body weight	9149	DYRK1B	OMIM:615812
HP:0004324	Increased body weight	64131	XYLT1	OMIM:615777
HP:0004324	Increased body weight	64131	XYLT1	ORPHA:370930
HP:0004324	Increased body weight	9056	SLC7A7	OMIM:222700
HP:0004324	Increased body weight	5718	PSMD12	ORPHA:529962
HP:0004324	Increased body weight	2186	BPTF	ORPHA:529962
HP:0004324	Increased body weight	2703	GJA8	OMIM:612474
HP:0004324	Increased body weight	2702	GJA5	OMIM:612474
HP:0004324	Increased body weight	3480	IGF1R	OMIM:270450
HP:0004324	Increased body weight	2690	GHR	ORPHA:633
HP:0004324	Increased body weight	84196	USP48	ORPHA:96253
HP:0004324	Increased body weight	7157	TP53	ORPHA:96253
HP:0004324	Increased body weight	7157	TP53	ORPHA:1501
HP:0004324	Increased body weight	9101	USP8	ORPHA:96253
HP:0004324	Increased body weight	64072	CDH23	ORPHA:96253
HP:0004324	Increased body weight	2908	NR3C1	ORPHA:96253
HP:0004324	Increased body weight	673	BRAF	ORPHA:96253
HP:0004324	Increased body weight	546	ATRX	ORPHA:96253
HP:0004324	Increased body weight	64324	NSD1	OMIM:117550
HP:0004324	Increased body weight	10743	RAI1	OMIM:182290
HP:0004324	Increased body weight	5566	PRKACA	OMIM:615830
HP:0004324	Increased body weight	54551	MAGEL2	ORPHA:398069
HP:0004324	Increased body weight	540	ATP7B	ORPHA:905
HP:0004324	Increased body weight	5257	PHKB	ORPHA:79240
HP:0004324	Increased body weight	79798	ARMC5	OMIM:615954
HP:0004324	Increased body weight	79798	ARMC5	ORPHA:189427
HP:0004324	Increased body weight	7068	THRB	OMIM:274300
HP:0004324	Increased body weight	4221	MEN1	ORPHA:97279
HP:0004324	Increased body weight	7528	YY1	ORPHA:97279
HP:0004324	Increased body weight	84133	ZNRF3	ORPHA:1501
HP:0004324	Increased body weight	5573	PRKAR1A	ORPHA:1501
HP:0004324	Increased body weight	5573	PRKAR1A	ORPHA:1359
HP:0004324	Increased body weight	1499	CTNNB1	ORPHA:1501
HP:0004324	Increased body weight	1029	CDKN2A	ORPHA:1501
HP:0004324	Increased body weight	7015	TERT	ORPHA:1501
HP:0004324	Increased body weight	7319	UBE2A	OMIM:300860
HP:0004324	Increased body weight	3172	HNF4A	ORPHA:263455
HP:0004324	Increased body weight	55023	PHIP	ORPHA:589905
HP:0004324	Increased body weight	5256	PHKA2	ORPHA:264580
HP:0004324	Increased body weight	5261	PHKG2	ORPHA:264580
HP:0004324	Increased body weight	7067	THRA	OMIM:614450
HP:0004324	Increased body weight	23028	KDM1A	ORPHA:189427
HP:0004324	Increased body weight	2778	GNAS	ORPHA:189427
HP:0004324	Increased body weight	3075	CFH	ORPHA:244242
HP:0004324	Increased body weight	3426	CFI	ORPHA:244242
HP:0004324	Increased body weight	4179	CD46	ORPHA:244242
HP:0004324	Increased body weight	101101692	HELLPAR	ORPHA:244242
HP:0004324	Increased body weight	50940	PDE11A	ORPHA:1359
HP:0004324	Increased body weight	641	BLM	ORPHA:125
HP:0004324	Increased body weight	3991	LIPE	OMIM:615980
HP:0004324	Increased body weight	79576	NKAP	OMIM:301039
HP:0004324	Increased body weight	8882	ZPR1	OMIM:619321
HP:0004324	Increased body weight	54805	CNNM2	OMIM:616418
HP:0004324	Increased body weight	84679	SLC9A7	OMIM:301024
HP:0004324	Increased body weight	10717	AP4B1	ORPHA:280763
HP:0004324	Increased body weight	10717	AP4B1	OMIM:614066
HP:0004324	Increased body weight	9179	AP4M1	ORPHA:280763
HP:0004324	Increased body weight	11154	AP4S1	ORPHA:280763
HP:0004324	Increased body weight	23431	AP4E1	ORPHA:280763
HP:0004324	Increased body weight	23431	AP4E1	OMIM:613744
HP:0004324	Increased body weight	57551	TAOK1	OMIM:619575
HP:0004324	Increased body weight	7874	USP7	ORPHA:500055
HP:0004324	Increased body weight	55870	ASH1L	OMIM:617796
HP:0004324	Increased body weight	146862	UNC45B	OMIM:619178
HP:0004324	Increased body weight	5626	PROP1	ORPHA:226307
HP:0004324	Increased body weight	89884	LHX4	ORPHA:226307
HP:0004324	Increased body weight	8022	LHX3	ORPHA:226307
HP:0004324	Increased body weight	5449	POU1F1	ORPHA:226307
HP:0004324	Increased body weight	22859	ADGRL1	OMIM:620065
HP:0004324	Increased body weight	7201	TRHR	ORPHA:99832
HP:0004324	Increased body weight	1513	CTSK	ORPHA:763
HP:0004324	Increased body weight	219854	TMEM218	OMIM:619562
HP:0004324	Increased body weight	3547	IGSF1	OMIM:300888
HP:0004324	Increased body weight	57187	THOC2	ORPHA:457240
HP:0004324	Increased body weight	51341	ZBTB7A	OMIM:619769
HP:0004324	Increased body weight	9325	TRIP4	ORPHA:486815
HP:0004323	Abnormality of body weight	1718	DHCR24	OMIM:602398
HP:0004323	Abnormality of body weight	1718	DHCR24	ORPHA:35107
HP:0004323	Abnormality of body weight	4524	MTHFR	ORPHA:395
HP:0004323	Abnormality of body weight	6555	SLC10A2	OMIM:613291
HP:0004323	Abnormality of body weight	7428	VHL	OMIM:263400
HP:0004323	Abnormality of body weight	26235	FBXL4	OMIM:615471
HP:0004323	Abnormality of body weight	340533	NEXMIF	OMIM:300912
HP:0004323	Abnormality of body weight	5993	RFX5	OMIM:620816
HP:0004323	Abnormality of body weight	5993	RFX5	ORPHA:572
HP:0004323	Abnormality of body weight	5994	RFXAP	OMIM:620817
HP:0004323	Abnormality of body weight	5994	RFXAP	ORPHA:572
HP:0004323	Abnormality of body weight	5913	RAPSN	OMIM:616326
HP:0004323	Abnormality of body weight	79827	CLMP	OMIM:615237
HP:0004323	Abnormality of body weight	10059	DNM1L	OMIM:614388
HP:0004323	Abnormality of body weight	5238	PGM3	ORPHA:443811
HP:0004323	Abnormality of body weight	5238	PGM3	OMIM:615816
HP:0004323	Abnormality of body weight	4897	NRCAM	OMIM:619833
HP:0004323	Abnormality of body weight	84334	COA8	ORPHA:436271
HP:0004323	Abnormality of body weight	1131	CHRM3	ORPHA:2970
HP:0004323	Abnormality of body weight	51	ACOX1	ORPHA:2971
HP:0004323	Abnormality of body weight	3909	LAMA3	ORPHA:79404
HP:0004323	Abnormality of body weight	3909	LAMA3	OMIM:226700
HP:0004323	Abnormality of body weight	3918	LAMC2	ORPHA:79404
HP:0004323	Abnormality of body weight	3918	LAMC2	OMIM:226700
HP:0004323	Abnormality of body weight	3914	LAMB3	ORPHA:79404
HP:0004323	Abnormality of body weight	3914	LAMB3	OMIM:226700
HP:0004323	Abnormality of body weight	4552	MTRR	OMIM:236270
HP:0004323	Abnormality of body weight	4552	MTRR	ORPHA:2169
HP:0004323	Abnormality of body weight	197131	UBR1	OMIM:243800
HP:0004323	Abnormality of body weight	197131	UBR1	ORPHA:2315
HP:0004323	Abnormality of body weight	80816	ASXL3	OMIM:615485
HP:0004323	Abnormality of body weight	4141	MARS1	OMIM:615486
HP:0004323	Abnormality of body weight	5651	TMPRSS15	OMIM:226200
HP:0004323	Abnormality of body weight	27245	AHDC1	ORPHA:412069
HP:0004323	Abnormality of body weight	27245	AHDC1	OMIM:615829
HP:0004323	Abnormality of body weight	2137	EXTL3	OMIM:617425
HP:0004323	Abnormality of body weight	166378	AFG2A	OMIM:616577
HP:0004323	Abnormality of body weight	5184	PEPD	OMIM:170100
HP:0004323	Abnormality of body weight	84466	MEGF10	OMIM:614399
HP:0004323	Abnormality of body weight	10686	CLDN16	OMIM:248250
HP:0004323	Abnormality of body weight	16	AARS1	OMIM:616339
HP:0004323	Abnormality of body weight	16	AARS1	ORPHA:442835
HP:0004323	Abnormality of body weight	3716	JAK1	OMIM:618999
HP:0004323	Abnormality of body weight	3508	IGHMBP2	OMIM:604320
HP:0004323	Abnormality of body weight	1161	ERCC8	OMIM:216400
HP:0004323	Abnormality of body weight	1161	ERCC8	ORPHA:90321
HP:0004323	Abnormality of body weight	79158	GNPTAB	OMIM:252500
HP:0004323	Abnormality of body weight	79158	GNPTAB	OMIM:252600
HP:0004323	Abnormality of body weight	7252	TSHB	ORPHA:90674
HP:0004323	Abnormality of body weight	29957	SLC25A24	ORPHA:2963
HP:0004323	Abnormality of body weight	29957	SLC25A24	OMIM:612289
HP:0004323	Abnormality of body weight	2188	FANCF	OMIM:603467
HP:0004323	Abnormality of body weight	284403	WDR62	OMIM:604317
HP:0004323	Abnormality of body weight	8029	CUBN	ORPHA:35858
HP:0004323	Abnormality of body weight	81693	AMN	ORPHA:35858
HP:0004323	Abnormality of body weight	1080	CFTR	OMIM:219700
HP:0004323	Abnormality of body weight	1080	CFTR	ORPHA:586
HP:0004323	Abnormality of body weight	2212	FCGR2A	OMIM:219700
HP:0004323	Abnormality of body weight	7040	TGFB1	OMIM:219700
HP:0004323	Abnormality of body weight	7040	TGFB1	ORPHA:586
HP:0004323	Abnormality of body weight	7040	TGFB1	OMIM:618213
HP:0004323	Abnormality of body weight	6023	RMRP	ORPHA:175
HP:0004323	Abnormality of body weight	6023	RMRP	ORPHA:39041
HP:0004323	Abnormality of body weight	3190	HNRNPK	OMIM:616580
HP:0004323	Abnormality of body weight	657	BMPR1A	OMIM:174900
HP:0004323	Abnormality of body weight	1777	DNASE2	OMIM:619858
HP:0004323	Abnormality of body weight	1716	DGUOK	OMIM:251880
HP:0004323	Abnormality of body weight	857	CAV1	OMIM:606721
HP:0004323	Abnormality of body weight	857	CAV1	ORPHA:528
HP:0004323	Abnormality of body weight	1594	CYP27B1	OMIM:264700
HP:0004323	Abnormality of body weight	1594	CYP27B1	ORPHA:289157
HP:0004323	Abnormality of body weight	64121	RRAGC	OMIM:620609
HP:0004323	Abnormality of body weight	9997	SCO2	OMIM:608908
HP:0004323	Abnormality of body weight	9997	SCO2	OMIM:604377
HP:0004323	Abnormality of body weight	23327	NEDD4L	OMIM:617201
HP:0004323	Abnormality of body weight	5073	PARN	OMIM:616353
HP:0004323	Abnormality of body weight	5073	PARN	ORPHA:3322
HP:0004323	Abnormality of body weight	8550	MAPKAPK5	OMIM:619869
HP:0004323	Abnormality of body weight	28514	DLL1	ORPHA:93926
HP:0004323	Abnormality of body weight	28514	DLL1	ORPHA:93924
HP:0004323	Abnormality of body weight	28514	DLL1	ORPHA:93925
HP:0004323	Abnormality of body weight	28514	DLL1	ORPHA:220386
HP:0004323	Abnormality of body weight	6496	SIX3	ORPHA:93926
HP:0004323	Abnormality of body weight	6496	SIX3	ORPHA:93924
HP:0004323	Abnormality of body weight	6496	SIX3	ORPHA:93925
HP:0004323	Abnormality of body weight	6496	SIX3	ORPHA:220386
HP:0004323	Abnormality of body weight	7050	TGIF1	ORPHA:93926
HP:0004323	Abnormality of body weight	7050	TGIF1	ORPHA:93924
HP:0004323	Abnormality of body weight	7050	TGIF1	ORPHA:93925
HP:0004323	Abnormality of body weight	7050	TGIF1	ORPHA:220386
HP:0004323	Abnormality of body weight	4838	NODAL	ORPHA:93926
HP:0004323	Abnormality of body weight	4838	NODAL	ORPHA:93924
HP:0004323	Abnormality of body weight	4838	NODAL	ORPHA:93925
HP:0004323	Abnormality of body weight	4838	NODAL	ORPHA:220386
HP:0004323	Abnormality of body weight	6469	SHH	ORPHA:93926
HP:0004323	Abnormality of body weight	6469	SHH	ORPHA:93924
HP:0004323	Abnormality of body weight	6469	SHH	ORPHA:93925
HP:0004323	Abnormality of body weight	6469	SHH	ORPHA:220386
HP:0004323	Abnormality of body weight	7546	ZIC2	ORPHA:93926
HP:0004323	Abnormality of body weight	7546	ZIC2	ORPHA:93924
HP:0004323	Abnormality of body weight	7546	ZIC2	ORPHA:93925
HP:0004323	Abnormality of body weight	7546	ZIC2	ORPHA:220386
HP:0004323	Abnormality of body weight	6491	STIL	ORPHA:93926
HP:0004323	Abnormality of body weight	6491	STIL	ORPHA:93924
HP:0004323	Abnormality of body weight	6491	STIL	ORPHA:93925
HP:0004323	Abnormality of body weight	6491	STIL	ORPHA:220386
HP:0004323	Abnormality of body weight	2619	GAS1	ORPHA:93926
HP:0004323	Abnormality of body weight	2619	GAS1	ORPHA:93924
HP:0004323	Abnormality of body weight	2619	GAS1	ORPHA:93925
HP:0004323	Abnormality of body weight	2619	GAS1	ORPHA:220386
HP:0004323	Abnormality of body weight	84976	DISP1	ORPHA:93926
HP:0004323	Abnormality of body weight	84976	DISP1	ORPHA:93924
HP:0004323	Abnormality of body weight	84976	DISP1	ORPHA:93925
HP:0004323	Abnormality of body weight	84976	DISP1	ORPHA:220386
HP:0004323	Abnormality of body weight	2736	GLI2	ORPHA:93926
HP:0004323	Abnormality of body weight	2736	GLI2	ORPHA:93924
HP:0004323	Abnormality of body weight	2736	GLI2	ORPHA:93925
HP:0004323	Abnormality of body weight	2736	GLI2	ORPHA:220386
HP:0004323	Abnormality of body weight	8928	FOXH1	ORPHA:93926
HP:0004323	Abnormality of body weight	8928	FOXH1	ORPHA:93924
HP:0004323	Abnormality of body weight	8928	FOXH1	ORPHA:93925
HP:0004323	Abnormality of body weight	8928	FOXH1	ORPHA:220386
HP:0004323	Abnormality of body weight	6997	CRIPTO	ORPHA:93926
HP:0004323	Abnormality of body weight	6997	CRIPTO	ORPHA:93924
HP:0004323	Abnormality of body weight	6997	CRIPTO	ORPHA:93925
HP:0004323	Abnormality of body weight	6997	CRIPTO	ORPHA:220386
HP:0004323	Abnormality of body weight	50937	CDON	ORPHA:93926
HP:0004323	Abnormality of body weight	50937	CDON	ORPHA:93924
HP:0004323	Abnormality of body weight	50937	CDON	ORPHA:93925
HP:0004323	Abnormality of body weight	50937	CDON	ORPHA:95496
HP:0004323	Abnormality of body weight	50937	CDON	ORPHA:220386
HP:0004323	Abnormality of body weight	10125	RASGRP1	OMIM:618534
HP:0004323	Abnormality of body weight	23007	PLCH1	ORPHA:93925
HP:0004323	Abnormality of body weight	10735	STAG2	ORPHA:93925
HP:0004323	Abnormality of body weight	10735	STAG2	OMIM:301022
HP:0004323	Abnormality of body weight	10735	STAG2	ORPHA:220386
HP:0004323	Abnormality of body weight	89910	UBE3B	ORPHA:2707
HP:0004323	Abnormality of body weight	89910	UBE3B	OMIM:244450
HP:0004323	Abnormality of body weight	4645	MYO5B	OMIM:619868
HP:0004323	Abnormality of body weight	4929	NR4A2	ORPHA:1617
HP:0004323	Abnormality of body weight	10716	TBR1	ORPHA:1617
HP:0004323	Abnormality of body weight	26834	RNU4-2	OMIM:620851
HP:0004323	Abnormality of body weight	4247	MGAT2	OMIM:212066
HP:0004323	Abnormality of body weight	4247	MGAT2	ORPHA:79329
HP:0004323	Abnormality of body weight	5373	PMM2	OMIM:212065
HP:0004323	Abnormality of body weight	5373	PMM2	ORPHA:79318
HP:0004323	Abnormality of body weight	63901	FAM111A	OMIM:602361
HP:0004323	Abnormality of body weight	26154	ABCA12	OMIM:242500
HP:0004323	Abnormality of body weight	26154	ABCA12	ORPHA:79394
HP:0004323	Abnormality of body weight	11285	B4GALT7	OMIM:130070
HP:0004323	Abnormality of body weight	1187	CLCNKA	OMIM:613090
HP:0004323	Abnormality of body weight	1187	CLCNKA	ORPHA:89938
HP:0004323	Abnormality of body weight	1188	CLCNKB	OMIM:613090
HP:0004323	Abnormality of body weight	1188	CLCNKB	ORPHA:358
HP:0004323	Abnormality of body weight	1188	CLCNKB	ORPHA:89938
HP:0004323	Abnormality of body weight	120227	CYP2R1	ORPHA:289157
HP:0004323	Abnormality of body weight	120227	CYP2R1	OMIM:600081
HP:0004323	Abnormality of body weight	4261	CIITA	OMIM:209920
HP:0004323	Abnormality of body weight	4261	CIITA	ORPHA:572
HP:0004323	Abnormality of body weight	5604	MAP2K1	OMIM:615279
HP:0004323	Abnormality of body weight	92609	TIMM50	OMIM:617698
HP:0004323	Abnormality of body weight	92609	TIMM50	ORPHA:505216
HP:0004323	Abnormality of body weight	51692	CPSF3	OMIM:619876
HP:0004323	Abnormality of body weight	1859	DYRK1A	ORPHA:464311
HP:0004323	Abnormality of body weight	2517	FUCA1	ORPHA:349
HP:0004323	Abnormality of body weight	2517	FUCA1	OMIM:230000
HP:0004323	Abnormality of body weight	472	ATM	ORPHA:100
HP:0004323	Abnormality of body weight	472	ATM	OMIM:208900
HP:0004323	Abnormality of body weight	3507	IGHM	OMIM:601495
HP:0004323	Abnormality of body weight	3507	IGHM	ORPHA:33110
HP:0004323	Abnormality of body weight	2947	GSTM3	ORPHA:586
HP:0004323	Abnormality of body weight	2729	GCLC	ORPHA:586
HP:0004323	Abnormality of body weight	1084	CEACAM3	ORPHA:586
HP:0004323	Abnormality of body weight	6556	SLC11A1	ORPHA:586
HP:0004323	Abnormality of body weight	51164	DCTN4	ORPHA:586
HP:0004323	Abnormality of body weight	3783	KCNN4	ORPHA:586
HP:0004323	Abnormality of body weight	4282	MIF	ORPHA:586
HP:0004323	Abnormality of body weight	1909	EDNRA	ORPHA:586
HP:0004323	Abnormality of body weight	6550	SLC9A3	ORPHA:586
HP:0004323	Abnormality of body weight	3162	HMOX1	ORPHA:586
HP:0004323	Abnormality of body weight	115019	SLC26A9	ORPHA:586
HP:0004323	Abnormality of body weight	3077	HFE	ORPHA:586
HP:0004323	Abnormality of body weight	11254	SLC6A14	ORPHA:586
HP:0004323	Abnormality of body weight	5265	SERPINA1	ORPHA:586
HP:0004323	Abnormality of body weight	22802	CLCA4	ORPHA:586
HP:0004323	Abnormality of body weight	4680	CEACAM6	ORPHA:586
HP:0004323	Abnormality of body weight	57169	ZNFX1	OMIM:619644
HP:0004323	Abnormality of body weight	2232	FDXR	ORPHA:543470
HP:0004323	Abnormality of body weight	11311	VPS45	OMIM:615285
HP:0004323	Abnormality of body weight	113179	ADAT3	OMIM:615286
HP:0004323	Abnormality of body weight	113179	ADAT3	ORPHA:363528
HP:0004323	Abnormality of body weight	50485	SMARCAL1	ORPHA:1830
HP:0004323	Abnormality of body weight	4285	MIPEP	OMIM:617228
HP:0004323	Abnormality of body weight	6901	TAFAZZIN	OMIM:302060
HP:0004323	Abnormality of body weight	90	ACVR1	ORPHA:337
HP:0004323	Abnormality of body weight	4351	MPI	OMIM:602579
HP:0004323	Abnormality of body weight	4351	MPI	ORPHA:79319
HP:0004323	Abnormality of body weight	5354	PLP1	OMIM:312080
HP:0004323	Abnormality of body weight	5354	PLP1	ORPHA:280210
HP:0004323	Abnormality of body weight	6603	SMARCD2	OMIM:617475
HP:0004323	Abnormality of body weight	111	ADCY5	OMIM:619651
HP:0004323	Abnormality of body weight	125988	MICOS13	OMIM:618329
HP:0004323	Abnormality of body weight	8565	YARS1	OMIM:619418
HP:0004323	Abnormality of body weight	54148	MRPL39	OMIM:620646
HP:0004323	Abnormality of body weight	4087	SMAD2	OMIM:619657
HP:0004323	Abnormality of body weight	1585	CYP11B2	OMIM:610600
HP:0004323	Abnormality of body weight	1585	CYP11B2	OMIM:203400
HP:0004323	Abnormality of body weight	1585	CYP11B2	ORPHA:556030
HP:0004323	Abnormality of body weight	4733	DRG1	OMIM:620641
HP:0004323	Abnormality of body weight	2184	FAH	OMIM:276700
HP:0004323	Abnormality of body weight	5836	PYGL	ORPHA:369
HP:0004323	Abnormality of body weight	56246	MRAP	ORPHA:361
HP:0004323	Abnormality of body weight	6770	STAR	ORPHA:361
HP:0004323	Abnormality of body weight	4158	MC2R	ORPHA:361
HP:0004323	Abnormality of body weight	4158	MC2R	OMIM:202200
HP:0004323	Abnormality of body weight	23530	NNT	ORPHA:361
HP:0004323	Abnormality of body weight	23530	NNT	OMIM:614736
HP:0004323	Abnormality of body weight	10587	TXNRD2	ORPHA:361
HP:0004323	Abnormality of body weight	91252	SLC39A13	ORPHA:157965
HP:0004323	Abnormality of body weight	404672	GTF2H5	OMIM:616395
HP:0004323	Abnormality of body weight	9742	IFT140	OMIM:266920
HP:0004323	Abnormality of body weight	205327	C2orf69	OMIM:619423
HP:0004323	Abnormality of body weight	171546	SPTSSA	OMIM:620416
HP:0004323	Abnormality of body weight	171546	SPTSSA	OMIM:620417
HP:0004323	Abnormality of body weight	27429	HTRA2	OMIM:617248
HP:0004323	Abnormality of body weight	6559	SLC12A3	ORPHA:358
HP:0004323	Abnormality of body weight	6559	SLC12A3	OMIM:263800
HP:0004323	Abnormality of body weight	389827	MYMK	OMIM:254940
HP:0004323	Abnormality of body weight	5428	POLG	ORPHA:254892
HP:0004323	Abnormality of body weight	5428	POLG	OMIM:203700
HP:0004323	Abnormality of body weight	56652	TWNK	ORPHA:254892
HP:0004323	Abnormality of body weight	11232	POLG2	ORPHA:254892
HP:0004323	Abnormality of body weight	11232	POLG2	OMIM:610131
HP:0004323	Abnormality of body weight	50484	RRM2B	ORPHA:254892
HP:0004323	Abnormality of body weight	50484	RRM2B	OMIM:612075
HP:0004323	Abnormality of body weight	2074	ERCC6	OMIM:133540
HP:0004323	Abnormality of body weight	2074	ERCC6	ORPHA:90321
HP:0004323	Abnormality of body weight	2074	ERCC6	OMIM:214150
HP:0004323	Abnormality of body weight	4625	MYH7	ORPHA:324604
HP:0004323	Abnormality of body weight	7273	TTN	ORPHA:324604
HP:0004323	Abnormality of body weight	9488	PIGB	OMIM:618580
HP:0004323	Abnormality of body weight	4558	MT-TF	ORPHA:550
HP:0004323	Abnormality of body weight	4572	MT-TQ	ORPHA:550
HP:0004323	Abnormality of body weight	4512	MT-CO1	ORPHA:550
HP:0004323	Abnormality of body weight	4513	MT-CO2	ORPHA:550
HP:0004323	Abnormality of body weight	4514	MT-CO3	ORPHA:550
HP:0004323	Abnormality of body weight	4578	MT-TW	ORPHA:550
HP:0004323	Abnormality of body weight	4578	MT-TW	ORPHA:255210
HP:0004323	Abnormality of body weight	4540	MT-ND5	ORPHA:550
HP:0004323	Abnormality of body weight	4540	MT-ND5	ORPHA:255210
HP:0004323	Abnormality of body weight	4541	MT-ND6	ORPHA:550
HP:0004323	Abnormality of body weight	4541	MT-ND6	ORPHA:255210
HP:0004323	Abnormality of body weight	4535	MT-ND1	ORPHA:550
HP:0004323	Abnormality of body weight	4535	MT-ND1	ORPHA:2609
HP:0004323	Abnormality of body weight	4535	MT-ND1	ORPHA:255210
HP:0004323	Abnormality of body weight	4538	MT-ND4	ORPHA:550
HP:0004323	Abnormality of body weight	4538	MT-ND4	ORPHA:255210
HP:0004323	Abnormality of body weight	4567	MT-TL1	ORPHA:550
HP:0004323	Abnormality of body weight	4567	MT-TL1	ORPHA:255210
HP:0004323	Abnormality of body weight	4567	MT-TL1	ORPHA:324525
HP:0004323	Abnormality of body weight	4574	MT-TS1	ORPHA:550
HP:0004323	Abnormality of body weight	4574	MT-TS1	OMIM:220110
HP:0004323	Abnormality of body weight	4575	MT-TS2	ORPHA:550
HP:0004323	Abnormality of body weight	4564	MT-TH	ORPHA:550
HP:0004323	Abnormality of body weight	1291	COL6A1	OMIM:254090
HP:0004323	Abnormality of body weight	10564	ARFGEF2	OMIM:608097
HP:0004323	Abnormality of body weight	2495	FTH1	OMIM:620669
HP:0004323	Abnormality of body weight	92335	STRADA	ORPHA:500533
HP:0004323	Abnormality of body weight	3659	IRF1	OMIM:620668
HP:0004323	Abnormality of body weight	51259	TMEM216	OMIM:608091
HP:0004323	Abnormality of body weight	51259	TMEM216	ORPHA:2754
HP:0004323	Abnormality of body weight	9526	MPDU1	OMIM:609180
HP:0004323	Abnormality of body weight	8737	RIPK1	OMIM:618108
HP:0004323	Abnormality of body weight	253738	EBF3	ORPHA:96148
HP:0004323	Abnormality of body weight	959	CD40LG	OMIM:308230
HP:0004323	Abnormality of body weight	55630	SLC39A4	ORPHA:37
HP:0004323	Abnormality of body weight	55630	SLC39A4	OMIM:201100
HP:0004323	Abnormality of body weight	10165	SLC25A13	OMIM:605814
HP:0004323	Abnormality of body weight	8540	AGPS	OMIM:600121
HP:0004323	Abnormality of body weight	5896	RAG1	OMIM:601457
HP:0004323	Abnormality of body weight	5896	RAG1	ORPHA:331206
HP:0004323	Abnormality of body weight	5896	RAG1	OMIM:603554
HP:0004323	Abnormality of body weight	5896	RAG1	ORPHA:39041
HP:0004323	Abnormality of body weight	5897	RAG2	OMIM:601457
HP:0004323	Abnormality of body weight	5897	RAG2	ORPHA:331206
HP:0004323	Abnormality of body weight	5897	RAG2	OMIM:603554
HP:0004323	Abnormality of body weight	5897	RAG2	ORPHA:39041
HP:0004323	Abnormality of body weight	2972	BRF1	ORPHA:444072
HP:0004323	Abnormality of body weight	3712	IVD	ORPHA:33
HP:0004323	Abnormality of body weight	29887	SNX10	OMIM:615085
HP:0004323	Abnormality of body weight	23114	NFASC	OMIM:618356
HP:0004323	Abnormality of body weight	112939	NACC1	ORPHA:500545
HP:0004323	Abnormality of body weight	112939	NACC1	OMIM:617393
HP:0004323	Abnormality of body weight	4952	OCRL	ORPHA:534
HP:0004323	Abnormality of body weight	4952	OCRL	OMIM:309000
HP:0004323	Abnormality of body weight	6774	STAT3	ORPHA:99885
HP:0004323	Abnormality of body weight	346171	ZFP57	ORPHA:99886
HP:0004323	Abnormality of body weight	57061	HYMAI	ORPHA:99886
HP:0004323	Abnormality of body weight	5325	PLAGL1	ORPHA:99886
HP:0004323	Abnormality of body weight	3417	IDH1	ORPHA:99646
HP:0004323	Abnormality of body weight	427	ASAH1	ORPHA:333
HP:0004323	Abnormality of body weight	427	ASAH1	OMIM:228000
HP:0004323	Abnormality of body weight	8625	RFXANK	ORPHA:572
HP:0004323	Abnormality of body weight	8625	RFXANK	OMIM:620815
HP:0004323	Abnormality of body weight	3039	HBA1	ORPHA:98791
HP:0004323	Abnormality of body weight	3040	HBA2	ORPHA:98791
HP:0004323	Abnormality of body weight	3861	KRT14	ORPHA:89838
HP:0004323	Abnormality of body weight	3861	KRT14	ORPHA:79396
HP:0004323	Abnormality of body weight	6777	STAT5B	OMIM:245590
HP:0004323	Abnormality of body weight	537	ATP6AP1	OMIM:300972
HP:0004323	Abnormality of body weight	4998	ORC1	OMIM:224690
HP:0004323	Abnormality of body weight	4998	ORC1	ORPHA:2554
HP:0004323	Abnormality of body weight	7922	SLC39A7	OMIM:619693
HP:0004323	Abnormality of body weight	7922	SLC39A7	ORPHA:33110
HP:0004323	Abnormality of body weight	6601	SMARCC2	OMIM:618362
HP:0004323	Abnormality of body weight	7468	NSD2	OMIM:619695
HP:0004323	Abnormality of body weight	7468	NSD2	OMIM:194190
HP:0004323	Abnormality of body weight	7468	NSD2	ORPHA:280
HP:0004323	Abnormality of body weight	6718	AKR1D1	OMIM:235555
HP:0004323	Abnormality of body weight	6718	AKR1D1	ORPHA:79303
HP:0004323	Abnormality of body weight	3054	HCFC1	OMIM:309541
HP:0004323	Abnormality of body weight	201163	FLCN	OMIM:610883
HP:0004323	Abnormality of body weight	2019	EN1	OMIM:619218
HP:0004323	Abnormality of body weight	549	AUH	OMIM:250950
HP:0004323	Abnormality of body weight	549	AUH	ORPHA:67046
HP:0004323	Abnormality of body weight	3291	HSD11B2	ORPHA:320
HP:0004323	Abnormality of body weight	3291	HSD11B2	OMIM:218030
HP:0004323	Abnormality of body weight	4547	MTTP	ORPHA:14
HP:0004323	Abnormality of body weight	6045	RNF2	OMIM:619460
HP:0004323	Abnormality of body weight	51102	MECR	OMIM:617282
HP:0004323	Abnormality of body weight	51102	MECR	ORPHA:508093
HP:0004323	Abnormality of body weight	6557	SLC12A1	OMIM:601678
HP:0004323	Abnormality of body weight	7809	BSND	OMIM:602522
HP:0004323	Abnormality of body weight	7809	BSND	ORPHA:89938
HP:0004323	Abnormality of body weight	63931	MRPS14	OMIM:618378
HP:0004323	Abnormality of body weight	11342	RNF13	OMIM:618379
HP:0004323	Abnormality of body weight	11342	RNF13	ORPHA:544503
HP:0004323	Abnormality of body weight	127833	SYT2	OMIM:619461
HP:0004323	Abnormality of body weight	8802	SUCLG1	ORPHA:17
HP:0004323	Abnormality of body weight	8802	SUCLG1	OMIM:245400
HP:0004323	Abnormality of body weight	146206	CARMIL2	OMIM:618131
HP:0004323	Abnormality of body weight	3188	HNRNPH2	OMIM:300986
HP:0004323	Abnormality of body weight	84705	GTPBP3	OMIM:616198
HP:0004323	Abnormality of body weight	84705	GTPBP3	ORPHA:444013
HP:0004323	Abnormality of body weight	9971	NR1H4	OMIM:617049
HP:0004323	Abnormality of body weight	5332	PLCB4	OMIM:620458
HP:0004323	Abnormality of body weight	1974	EIF4A2	OMIM:620455
HP:0004323	Abnormality of body weight	4548	MTR	OMIM:250940
HP:0004323	Abnormality of body weight	65250	CPLANE1	OMIM:277170
HP:0004323	Abnormality of body weight	65250	CPLANE1	ORPHA:2754
HP:0004323	Abnormality of body weight	134218	DNAJC21	OMIM:617052
HP:0004323	Abnormality of body weight	134218	DNAJC21	ORPHA:811
HP:0004323	Abnormality of body weight	134218	DNAJC21	OMIM:260400
HP:0004323	Abnormality of body weight	10526	IPO8	OMIM:619472
HP:0004323	Abnormality of body weight	54539	NDUFB11	OMIM:300952
HP:0004323	Abnormality of body weight	54539	NDUFB11	ORPHA:2556
HP:0004323	Abnormality of body weight	54539	NDUFB11	ORPHA:2609
HP:0004323	Abnormality of body weight	435	ASL	OMIM:207900
HP:0004323	Abnormality of body weight	8452	CUL3	OMIM:619239
HP:0004323	Abnormality of body weight	162417	NAGS	OMIM:237310
HP:0004323	Abnormality of body weight	162417	NAGS	ORPHA:927
HP:0004323	Abnormality of body weight	2887	GRB10	ORPHA:96182
HP:0004323	Abnormality of body weight	10682	EBP	OMIM:300960
HP:0004323	Abnormality of body weight	10682	EBP	ORPHA:401973
HP:0004323	Abnormality of body weight	10682	EBP	OMIM:302960
HP:0004323	Abnormality of body weight	1457	CSNK2A1	OMIM:617062
HP:0004323	Abnormality of body weight	100147744	RNU7-1	OMIM:619487
HP:0004323	Abnormality of body weight	374879	ZNF699	OMIM:619488
HP:0004323	Abnormality of body weight	200931	SLC51A	OMIM:619484
HP:0004323	Abnormality of body weight	9373	PLAA	ORPHA:521426
HP:0004323	Abnormality of body weight	9373	PLAA	OMIM:617527
HP:0004323	Abnormality of body weight	2998	GYS2	ORPHA:2089
HP:0004323	Abnormality of body weight	57038	RARS2	OMIM:611523
HP:0004323	Abnormality of body weight	6514	SLC2A2	ORPHA:2088
HP:0004323	Abnormality of body weight	6514	SLC2A2	OMIM:227810
HP:0004323	Abnormality of body weight	10551	AGR2	OMIM:620233
HP:0004323	Abnormality of body weight	3516	RBPJ	ORPHA:974
HP:0004323	Abnormality of body weight	4851	NOTCH1	ORPHA:974
HP:0004323	Abnormality of body weight	57514	ARHGAP31	ORPHA:974
HP:0004323	Abnormality of body weight	57572	DOCK6	ORPHA:974
HP:0004323	Abnormality of body weight	285203	EOGT	ORPHA:974
HP:0004323	Abnormality of body weight	54567	DLL4	ORPHA:974
HP:0004323	Abnormality of body weight	60386	SLC25A19	OMIM:607196
HP:0004323	Abnormality of body weight	55670	PEX26	ORPHA:772
HP:0004323	Abnormality of body weight	55670	PEX26	ORPHA:912
HP:0004323	Abnormality of body weight	5828	PEX2	ORPHA:772
HP:0004323	Abnormality of body weight	5828	PEX2	OMIM:614866
HP:0004323	Abnormality of body weight	5828	PEX2	ORPHA:912
HP:0004323	Abnormality of body weight	8504	PEX3	ORPHA:772
HP:0004323	Abnormality of body weight	8504	PEX3	ORPHA:912
HP:0004323	Abnormality of body weight	9409	PEX16	ORPHA:772
HP:0004323	Abnormality of body weight	9409	PEX16	OMIM:614877
HP:0004323	Abnormality of body weight	9409	PEX16	ORPHA:912
HP:0004323	Abnormality of body weight	5190	PEX6	ORPHA:772
HP:0004323	Abnormality of body weight	5190	PEX6	ORPHA:912
HP:0004323	Abnormality of body weight	8799	PEX11B	ORPHA:772
HP:0004323	Abnormality of body weight	8799	PEX11B	ORPHA:912
HP:0004323	Abnormality of body weight	5830	PEX5	ORPHA:772
HP:0004323	Abnormality of body weight	5830	PEX5	OMIM:214110
HP:0004323	Abnormality of body weight	5830	PEX5	ORPHA:912
HP:0004323	Abnormality of body weight	5189	PEX1	ORPHA:772
HP:0004323	Abnormality of body weight	5189	PEX1	OMIM:214100
HP:0004323	Abnormality of body weight	5189	PEX1	ORPHA:912
HP:0004323	Abnormality of body weight	5193	PEX12	ORPHA:772
HP:0004323	Abnormality of body weight	5193	PEX12	ORPHA:912
HP:0004323	Abnormality of body weight	5193	PEX12	OMIM:266510
HP:0004323	Abnormality of body weight	5194	PEX13	ORPHA:772
HP:0004323	Abnormality of body weight	5194	PEX13	OMIM:614883
HP:0004323	Abnormality of body weight	5194	PEX13	ORPHA:912
HP:0004323	Abnormality of body weight	5195	PEX14	ORPHA:772
HP:0004323	Abnormality of body weight	5195	PEX14	ORPHA:912
HP:0004323	Abnormality of body weight	5192	PEX10	ORPHA:772
HP:0004323	Abnormality of body weight	5192	PEX10	ORPHA:912
HP:0004323	Abnormality of body weight	201595	STT3B	ORPHA:370924
HP:0004323	Abnormality of body weight	201595	STT3B	OMIM:615597
HP:0004323	Abnormality of body weight	6748	SSR4	ORPHA:370927
HP:0004323	Abnormality of body weight	6748	SSR4	OMIM:300934
HP:0004323	Abnormality of body weight	5317	PKP1	ORPHA:158668
HP:0004323	Abnormality of body weight	7482	WNT2B	OMIM:618168
HP:0004323	Abnormality of body weight	63899	NSUN3	OMIM:619012
HP:0004323	Abnormality of body weight	203190	LGI3	OMIM:620007
HP:0004323	Abnormality of body weight	284058	KANSL1	OMIM:610443
HP:0004323	Abnormality of body weight	875	CBS	OMIM:236200
HP:0004323	Abnormality of body weight	84081	NSRP1	OMIM:620001
HP:0004323	Abnormality of body weight	10555	AGPAT2	ORPHA:528
HP:0004323	Abnormality of body weight	284119	CAVIN1	ORPHA:528
HP:0004323	Abnormality of body weight	284119	CAVIN1	OMIM:613327
HP:0004323	Abnormality of body weight	26580	BSCL2	ORPHA:528
HP:0004323	Abnormality of body weight	2353	FOS	ORPHA:528
HP:0004323	Abnormality of body weight	10079	ATP9A	OMIM:620242
HP:0004323	Abnormality of body weight	2801	GOLGA2	OMIM:620240
HP:0004323	Abnormality of body weight	3030	HADHA	ORPHA:5
HP:0004323	Abnormality of body weight	3030	HADHA	OMIM:609015
HP:0004323	Abnormality of body weight	50617	ATP6V0A4	OMIM:602722
HP:0004323	Abnormality of body weight	116150	NUS1	OMIM:617082
HP:0004323	Abnormality of body weight	116150	NUS1	ORPHA:442835
HP:0004323	Abnormality of body weight	118429	ANTXR2	OMIM:228600
HP:0004323	Abnormality of body weight	118429	ANTXR2	ORPHA:2176
HP:0004323	Abnormality of body weight	1373	CPS1	OMIM:237300
HP:0004323	Abnormality of body weight	5696	PSMB8	OMIM:256040
HP:0004323	Abnormality of body weight	25886	POC1A	OMIM:614813
HP:0004323	Abnormality of body weight	9898	UBAP2L	OMIM:620494
HP:0004323	Abnormality of body weight	128	ADH5	OMIM:619151
HP:0004323	Abnormality of body weight	64374	SIL1	OMIM:248800
HP:0004323	Abnormality of body weight	6399	TRAPPC2	ORPHA:93284
HP:0004323	Abnormality of body weight	6535	SLC6A8	OMIM:300352
HP:0004323	Abnormality of body weight	6309	SC5D	ORPHA:46059
HP:0004323	Abnormality of body weight	6775	STAT4	ORPHA:85410
HP:0004323	Abnormality of body weight	3560	IL2RB	ORPHA:85410
HP:0004323	Abnormality of body weight	3560	IL2RB	OMIM:618495
HP:0004323	Abnormality of body weight	79722	ANKRD55	ORPHA:85410
HP:0004323	Abnormality of body weight	26191	PTPN22	ORPHA:85410
HP:0004323	Abnormality of body weight	919	CD247	ORPHA:85410
HP:0004323	Abnormality of body weight	3559	IL2RA	ORPHA:85410
HP:0004323	Abnormality of body weight	5771	PTPN2	ORPHA:85410
HP:0004323	Abnormality of body weight	5393	EXOSC9	OMIM:618065
HP:0004323	Abnormality of body weight	5393	EXOSC9	ORPHA:2254
HP:0004323	Abnormality of body weight	10312	TCIRG1	OMIM:259700
HP:0004323	Abnormality of body weight	5009	OTC	OMIM:311250
HP:0004323	Abnormality of body weight	5009	OTC	ORPHA:664
HP:0004323	Abnormality of body weight	25821	MTO1	OMIM:614702
HP:0004323	Abnormality of body weight	987	LRBA	OMIM:614700
HP:0004323	Abnormality of body weight	51343	FZR1	OMIM:620145
HP:0004323	Abnormality of body weight	51343	FZR1	ORPHA:442835
HP:0004323	Abnormality of body weight	80232	WDR26	ORPHA:513456
HP:0004323	Abnormality of body weight	80232	WDR26	OMIM:617616
HP:0004323	Abnormality of body weight	51506	UFC1	OMIM:618076
HP:0004323	Abnormality of body weight	63916	ELMO2	ORPHA:3019
HP:0004323	Abnormality of body weight	79947	DHDDS	OMIM:613861
HP:0004323	Abnormality of body weight	79947	DHDDS	ORPHA:442835
HP:0004323	Abnormality of body weight	841	CASP8	OMIM:607271
HP:0004323	Abnormality of body weight	55788	LMBRD1	OMIM:277380
HP:0004323	Abnormality of body weight	55788	LMBRD1	ORPHA:79284
HP:0004323	Abnormality of body weight	80055	PGAP1	OMIM:615802
HP:0004323	Abnormality of body weight	8456	FOXN1	ORPHA:83471
HP:0004323	Abnormality of body weight	6662	SOX9	OMIM:114290
HP:0004323	Abnormality of body weight	6662	SOX9	ORPHA:718
HP:0004323	Abnormality of body weight	5979	RET	ORPHA:99803
HP:0004323	Abnormality of body weight	429	ASCL1	ORPHA:99803
HP:0004323	Abnormality of body weight	8929	PHOX2B	ORPHA:99803
HP:0004323	Abnormality of body weight	3242	HPD	OMIM:140350
HP:0004323	Abnormality of body weight	3242	HPD	ORPHA:2118
HP:0004323	Abnormality of body weight	10225	CD96	OMIM:211750
HP:0004323	Abnormality of body weight	771	CA12	OMIM:143860
HP:0004323	Abnormality of body weight	79631	EFL1	ORPHA:811
HP:0004323	Abnormality of body weight	79631	EFL1	OMIM:617941
HP:0004323	Abnormality of body weight	51119	SBDS	ORPHA:811
HP:0004323	Abnormality of body weight	51119	SBDS	OMIM:260400
HP:0004323	Abnormality of body weight	3988	LIPA	OMIM:620151
HP:0004323	Abnormality of body weight	3988	LIPA	OMIM:278000
HP:0004323	Abnormality of body weight	9382	COG1	ORPHA:263508
HP:0004323	Abnormality of body weight	6439	SFTPB	OMIM:265120
HP:0004323	Abnormality of body weight	87178	PNPT1	ORPHA:319514
HP:0004323	Abnormality of body weight	1738	DLD	ORPHA:2394
HP:0004323	Abnormality of body weight	4001	LMNB1	OMIM:619179
HP:0004323	Abnormality of body weight	84876	ORAI1	OMIM:612782
HP:0004323	Abnormality of body weight	92579	G6PC3	OMIM:612541
HP:0004323	Abnormality of body weight	55858	TMEM165	OMIM:614727
HP:0004323	Abnormality of body weight	64087	MCCC2	OMIM:210210
HP:0004323	Abnormality of body weight	9839	ZEB2	ORPHA:261552
HP:0004323	Abnormality of body weight	9839	ZEB2	ORPHA:261537
HP:0004323	Abnormality of body weight	50674	NEUROG3	OMIM:610370
HP:0004323	Abnormality of body weight	6885	MAP3K7	OMIM:157800
HP:0004323	Abnormality of body weight	7170	TPM3	OMIM:255310
HP:0004323	Abnormality of body weight	7170	TPM3	ORPHA:2020
HP:0004323	Abnormality of body weight	1591	CYP24A1	OMIM:143880
HP:0004323	Abnormality of body weight	84342	COG8	ORPHA:95428
HP:0004323	Abnormality of body weight	84342	COG8	OMIM:611182
HP:0004323	Abnormality of body weight	23545	ATP6V0A2	OMIM:278250
HP:0004323	Abnormality of body weight	23545	ATP6V0A2	OMIM:219200
HP:0004323	Abnormality of body weight	23545	ATP6V0A2	ORPHA:2834
HP:0004323	Abnormality of body weight	23545	ATP6V0A2	ORPHA:357074
HP:0004323	Abnormality of body weight	84300	UQCC2	OMIM:615824
HP:0004323	Abnormality of body weight	4598	MVK	OMIM:610377
HP:0004323	Abnormality of body weight	56922	MCCC1	OMIM:210200
HP:0004323	Abnormality of body weight	113235	SLC46A1	OMIM:229050
HP:0004323	Abnormality of body weight	113235	SLC46A1	ORPHA:90045
HP:0004323	Abnormality of body weight	63894	VIPAS39	OMIM:613404
HP:0004323	Abnormality of body weight	79053	ALG8	OMIM:608104
HP:0004323	Abnormality of body weight	79053	ALG8	ORPHA:79325
HP:0004323	Abnormality of body weight	10815	CPLX1	OMIM:194190
HP:0004323	Abnormality of body weight	10815	CPLX1	ORPHA:280
HP:0004323	Abnormality of body weight	1487	CTBP1	OMIM:194190
HP:0004323	Abnormality of body weight	1487	CTBP1	ORPHA:280
HP:0004323	Abnormality of body weight	53834	FGFRL1	OMIM:194190
HP:0004323	Abnormality of body weight	3954	LETM1	OMIM:194190
HP:0004323	Abnormality of body weight	3954	LETM1	ORPHA:280
HP:0004323	Abnormality of body weight	84947	SERAC1	OMIM:614739
HP:0004323	Abnormality of body weight	1798	DPAGT1	ORPHA:86309
HP:0004323	Abnormality of body weight	6125	RPL5	OMIM:612561
HP:0004323	Abnormality of body weight	4519	MT-CYB	ORPHA:137675
HP:0004323	Abnormality of body weight	773	CACNA1A	ORPHA:2131
HP:0004323	Abnormality of body weight	773	CACNA1A	ORPHA:442835
HP:0004323	Abnormality of body weight	6507	SLC1A3	ORPHA:2131
HP:0004323	Abnormality of body weight	477	ATP1A2	ORPHA:2131
HP:0004323	Abnormality of body weight	477	ATP1A2	ORPHA:442835
HP:0004323	Abnormality of body weight	478	ATP1A3	ORPHA:2131
HP:0004323	Abnormality of body weight	478	ATP1A3	ORPHA:442835
HP:0004323	Abnormality of body weight	90624	LYRM7	OMIM:615838
HP:0004323	Abnormality of body weight	1650	DDOST	OMIM:614507
HP:0004323	Abnormality of body weight	1650	DDOST	ORPHA:300536
HP:0004323	Abnormality of body weight	10056	FARSB	OMIM:613658
HP:0004323	Abnormality of body weight	6091	ROBO1	ORPHA:95496
HP:0004323	Abnormality of body weight	23432	GPR161	ORPHA:95496
HP:0004323	Abnormality of body weight	11128	POLR3A	OMIM:264090
HP:0004323	Abnormality of body weight	11128	POLR3A	ORPHA:3455
HP:0004323	Abnormality of body weight	79759	ZNF668	OMIM:620194
HP:0004323	Abnormality of body weight	1303	COL12A1	ORPHA:536516
HP:0004323	Abnormality of body weight	182	JAG1	OMIM:118450
HP:0004323	Abnormality of body weight	9440	MED17	OMIM:613668
HP:0004323	Abnormality of body weight	5422	POLA1	ORPHA:163976
HP:0004323	Abnormality of body weight	917	CD3G	OMIM:615607
HP:0004323	Abnormality of body weight	51128	SAR1B	ORPHA:71
HP:0004323	Abnormality of body weight	51128	SAR1B	OMIM:246700
HP:0004323	Abnormality of body weight	55343	SLC35C1	ORPHA:99843
HP:0004323	Abnormality of body weight	695	BTK	ORPHA:47
HP:0004323	Abnormality of body weight	8813	DPM1	OMIM:608799
HP:0004323	Abnormality of body weight	8813	DPM1	ORPHA:79322
HP:0004323	Abnormality of body weight	1438	CSF2RA	OMIM:300770
HP:0004323	Abnormality of body weight	9652	SKIC3	OMIM:222470
HP:0004323	Abnormality of body weight	55275	VPS53	OMIM:615851
HP:0004323	Abnormality of body weight	445	ASS1	OMIM:215700
HP:0004323	Abnormality of body weight	915	CD3D	OMIM:615617
HP:0004323	Abnormality of body weight	6314	ATXN7	ORPHA:94147
HP:0004323	Abnormality of body weight	171023	ASXL1	OMIM:605039
HP:0004323	Abnormality of body weight	8694	DGAT1	OMIM:615863
HP:0004323	Abnormality of body weight	1288	COL4A6	ORPHA:1018
HP:0004323	Abnormality of body weight	1287	COL4A5	ORPHA:1018
HP:0004323	Abnormality of body weight	9663	LPIN2	OMIM:609628
HP:0004323	Abnormality of body weight	9663	LPIN2	ORPHA:77297
HP:0004323	Abnormality of body weight	91949	COG7	OMIM:608779
HP:0004323	Abnormality of body weight	91949	COG7	ORPHA:79333
HP:0004323	Abnormality of body weight	4688	NCF2	OMIM:233710
HP:0004323	Abnormality of body weight	6569	SLC34A1	OMIM:616963
HP:0004323	Abnormality of body weight	132	ADK	OMIM:614300
HP:0004323	Abnormality of body weight	4072	EPCAM	OMIM:613217
HP:0004323	Abnormality of body weight	4072	EPCAM	ORPHA:92050
HP:0004323	Abnormality of body weight	6948	TCN2	OMIM:275350
HP:0004323	Abnormality of body weight	79796	ALG9	OMIM:608776
HP:0004323	Abnormality of body weight	50943	FOXP3	OMIM:304790
HP:0004323	Abnormality of body weight	3981	LIG4	OMIM:606593
HP:0004323	Abnormality of body weight	3981	LIG4	ORPHA:235
HP:0004323	Abnormality of body weight	3981	LIG4	ORPHA:39041
HP:0004323	Abnormality of body weight	3718	JAK3	OMIM:600802
HP:0004323	Abnormality of body weight	54931	TRMT10C	OMIM:616974
HP:0004323	Abnormality of body weight	4792	NFKBIA	OMIM:612132
HP:0004323	Abnormality of body weight	4792	NFKBIA	ORPHA:98813
HP:0004323	Abnormality of body weight	2782	GNB1	OMIM:616973
HP:0004323	Abnormality of body weight	2782	GNB1	ORPHA:488613
HP:0004323	Abnormality of body weight	131118	DNAJC19	OMIM:610198
HP:0004323	Abnormality of body weight	79644	SRD5A3	OMIM:612379
HP:0004323	Abnormality of body weight	117581	TWIST2	ORPHA:1231
HP:0004323	Abnormality of body weight	3097	HIVEP2	OMIM:616977
HP:0004323	Abnormality of body weight	7547	ZIC3	OMIM:306955
HP:0004323	Abnormality of body weight	7037	TFRC	OMIM:616740
HP:0004323	Abnormality of body weight	4358	MPV17	OMIM:256810
HP:0004323	Abnormality of body weight	10616	RBCK1	OMIM:615895
HP:0004323	Abnormality of body weight	130589	GALM	ORPHA:570422
HP:0004323	Abnormality of body weight	6868	ADAM17	OMIM:614328
HP:0004323	Abnormality of body weight	2917	GRM7	OMIM:618922
HP:0004323	Abnormality of body weight	2917	GRM7	ORPHA:1934
HP:0004323	Abnormality of body weight	81620	CDT1	ORPHA:2554
HP:0004323	Abnormality of body weight	81620	CDT1	OMIM:613804
HP:0004323	Abnormality of body weight	5000	ORC4	ORPHA:2554
HP:0004323	Abnormality of body weight	5000	ORC4	OMIM:613800
HP:0004323	Abnormality of body weight	23594	ORC6	ORPHA:2554
HP:0004323	Abnormality of body weight	23594	ORC6	OMIM:613803
HP:0004323	Abnormality of body weight	990	CDC6	ORPHA:2554
HP:0004323	Abnormality of body weight	990	CDC6	OMIM:613805
HP:0004323	Abnormality of body weight	51053	GMNN	ORPHA:2554
HP:0004323	Abnormality of body weight	51053	GMNN	OMIM:616835
HP:0004323	Abnormality of body weight	84693	MCEE	OMIM:251120
HP:0004323	Abnormality of body weight	1349	COX7B	ORPHA:2556
HP:0004323	Abnormality of body weight	3052	HCCS	ORPHA:2556
HP:0004323	Abnormality of body weight	4982	TNFRSF11B	OMIM:239000
HP:0004323	Abnormality of body weight	25	ABL1	OMIM:617602
HP:0004323	Abnormality of body weight	57511	COG6	OMIM:614576
HP:0004323	Abnormality of body weight	25839	COG4	OMIM:613489
HP:0004323	Abnormality of body weight	26227	PHGDH	ORPHA:79351
HP:0004323	Abnormality of body weight	3868	KRT16	ORPHA:2309
HP:0004323	Abnormality of body weight	3872	KRT17	ORPHA:2309
HP:0004323	Abnormality of body weight	3853	KRT6A	ORPHA:2309
HP:0004323	Abnormality of body weight	3854	KRT6B	ORPHA:2309
HP:0004323	Abnormality of body weight	27031	NPHP3	OMIM:604387
HP:0004323	Abnormality of body weight	326625	MMAB	OMIM:251110
HP:0004323	Abnormality of body weight	760	CA2	ORPHA:2785
HP:0004323	Abnormality of body weight	60	ACTB	OMIM:243310
HP:0004323	Abnormality of body weight	60	ACTB	ORPHA:2995
HP:0004323	Abnormality of body weight	23476	BRD4	ORPHA:199
HP:0004323	Abnormality of body weight	9126	SMC3	ORPHA:199
HP:0004323	Abnormality of body weight	9126	SMC3	OMIM:610759
HP:0004323	Abnormality of body weight	8243	SMC1A	ORPHA:199
HP:0004323	Abnormality of body weight	8243	SMC1A	ORPHA:220386
HP:0004323	Abnormality of body weight	6878	TAF6	ORPHA:199
HP:0004323	Abnormality of body weight	25836	NIPBL	ORPHA:199
HP:0004323	Abnormality of body weight	55869	HDAC8	ORPHA:199
HP:0004323	Abnormality of body weight	5885	RAD21	ORPHA:199
HP:0004323	Abnormality of body weight	10664	CTCF	ORPHA:363611
HP:0004323	Abnormality of body weight	10664	CTCF	OMIM:615502
HP:0004323	Abnormality of body weight	55180	LINS1	OMIM:614340
HP:0004323	Abnormality of body weight	11222	MRPL3	OMIM:614582
HP:0004323	Abnormality of body weight	51520	LARS1	OMIM:615438
HP:0004323	Abnormality of body weight	6476	SI	ORPHA:35122
HP:0004323	Abnormality of body weight	55617	TASP1	OMIM:618950
HP:0004323	Abnormality of body weight	6182	MRPL12	OMIM:618951
HP:0004323	Abnormality of body weight	60528	ELAC2	OMIM:615440
HP:0004323	Abnormality of body weight	57688	ZSWIM6	OMIM:617865
HP:0004323	Abnormality of body weight	2893	GRIA4	OMIM:617864
HP:0004323	Abnormality of body weight	28957	MRPS28	OMIM:618958
HP:0004323	Abnormality of body weight	50615	IL21R	OMIM:615207
HP:0004323	Abnormality of body weight	57570	TRMT5	OMIM:616539
HP:0004323	Abnormality of body weight	3033	HADH	ORPHA:71212
HP:0004323	Abnormality of body weight	617	BCS1L	OMIM:124000
HP:0004323	Abnormality of body weight	139285	AMER1	OMIM:300373
HP:0004323	Abnormality of body weight	54802	TRIT1	OMIM:617873
HP:0004323	Abnormality of body weight	51081	MRPS7	OMIM:617872
HP:0004323	Abnormality of body weight	1537	CYC1	OMIM:615453
HP:0004323	Abnormality of body weight	26503	SLC17A5	OMIM:269920
HP:0004323	Abnormality of body weight	4724	NDUFS4	OMIM:252010
HP:0004323	Abnormality of body weight	4724	NDUFS4	ORPHA:2609
HP:0004323	Abnormality of body weight	133686	NADK2	ORPHA:431361
HP:0004323	Abnormality of body weight	133686	NADK2	OMIM:616034
HP:0004323	Abnormality of body weight	3458	IFNG	OMIM:618963
HP:0004323	Abnormality of body weight	4621	MYH3	ORPHA:2990
HP:0004323	Abnormality of body weight	4621	MYH3	OMIM:193700
HP:0004323	Abnormality of body weight	4621	MYH3	ORPHA:2053
HP:0004323	Abnormality of body weight	1146	CHRNG	ORPHA:2990
HP:0004323	Abnormality of body weight	26123	TCTN3	ORPHA:2753
HP:0004323	Abnormality of body weight	26123	TCTN3	ORPHA:2754
HP:0004323	Abnormality of body weight	71	ACTG1	ORPHA:2995
HP:0004323	Abnormality of body weight	79583	TMEM231	ORPHA:2754
HP:0004323	Abnormality of body weight	10210	TOPORS	ORPHA:2754
HP:0004323	Abnormality of body weight	9851	KIAA0753	ORPHA:2754
HP:0004323	Abnormality of body weight	5147	PDE6D	ORPHA:2754
HP:0004323	Abnormality of body weight	317662	FAM149B1	ORPHA:2754
HP:0004323	Abnormality of body weight	374654	KIF7	ORPHA:2754
HP:0004323	Abnormality of body weight	374654	KIF7	OMIM:200990
HP:0004323	Abnormality of body weight	1832	DSP	OMIM:605676
HP:0004323	Abnormality of body weight	5699	PSMB10	OMIM:620807
HP:0004323	Abnormality of body weight	672	BRCA1	OMIM:617883
HP:0004323	Abnormality of body weight	4153	MBL2	OMIM:614372
HP:0004323	Abnormality of body weight	523	ATP6V1A	OMIM:617403
HP:0004323	Abnormality of body weight	523	ATP6V1A	ORPHA:442835
HP:0004323	Abnormality of body weight	523	ATP6V1A	ORPHA:357074
HP:0004323	Abnormality of body weight	242	ALOX12B	ORPHA:79394
HP:0004323	Abnormality of body weight	204219	CERS3	ORPHA:79394
HP:0004323	Abnormality of body weight	6820	SULT2B1	ORPHA:79394
HP:0004323	Abnormality of body weight	285848	PNPLA1	ORPHA:79394
HP:0004323	Abnormality of body weight	59344	ALOXE3	ORPHA:79394
HP:0004323	Abnormality of body weight	348938	NIPAL4	ORPHA:79394
HP:0004323	Abnormality of body weight	7051	TGM1	ORPHA:79394
HP:0004323	Abnormality of body weight	121214	SDR9C7	ORPHA:79394
HP:0004323	Abnormality of body weight	6929	TCF3	OMIM:619824
HP:0004323	Abnormality of body weight	6929	TCF3	ORPHA:33110
HP:0004323	Abnormality of body weight	3852	KRT5	ORPHA:79396
HP:0004323	Abnormality of body weight	2746	GLUD1	OMIM:606762
HP:0004323	Abnormality of body weight	100	ADA	ORPHA:277
HP:0004323	Abnormality of body weight	100	ADA	ORPHA:39041
HP:0004323	Abnormality of body weight	100	ADA	OMIM:102700
HP:0004323	Abnormality of body weight	3561	IL2RG	ORPHA:276
HP:0004323	Abnormality of body weight	3561	IL2RG	OMIM:300400
HP:0004323	Abnormality of body weight	3561	IL2RG	ORPHA:39041
HP:0004323	Abnormality of body weight	1497	CTNS	OMIM:219800
HP:0004323	Abnormality of body weight	1497	CTNS	ORPHA:411629
HP:0004323	Abnormality of body weight	1497	CTNS	ORPHA:411634
HP:0004323	Abnormality of body weight	64421	DCLRE1C	ORPHA:275
HP:0004323	Abnormality of body weight	64421	DCLRE1C	OMIM:603554
HP:0004323	Abnormality of body weight	64421	DCLRE1C	OMIM:602450
HP:0004323	Abnormality of body weight	64421	DCLRE1C	ORPHA:39041
HP:0004323	Abnormality of body weight	4791	NFKB2	ORPHA:293978
HP:0004323	Abnormality of body weight	25915	NDUFAF3	ORPHA:2609
HP:0004323	Abnormality of body weight	51103	NDUFAF1	ORPHA:2609
HP:0004323	Abnormality of body weight	51103	NDUFAF1	OMIM:618234
HP:0004323	Abnormality of body weight	91942	NDUFAF2	ORPHA:2609
HP:0004323	Abnormality of body weight	51300	TIMMDC1	ORPHA:2609
HP:0004323	Abnormality of body weight	51300	TIMMDC1	OMIM:618251
HP:0004323	Abnormality of body weight	4716	NDUFB10	ORPHA:2609
HP:0004323	Abnormality of body weight	4723	NDUFV1	ORPHA:2609
HP:0004323	Abnormality of body weight	55572	FOXRED1	ORPHA:2609
HP:0004323	Abnormality of body weight	284184	NDUFAF8	ORPHA:2609
HP:0004323	Abnormality of body weight	55863	TMEM126B	ORPHA:2609
HP:0004323	Abnormality of body weight	55863	TMEM126B	OMIM:618250
HP:0004323	Abnormality of body weight	4537	MT-ND3	ORPHA:2609
HP:0004323	Abnormality of body weight	4537	MT-ND3	ORPHA:255210
HP:0004323	Abnormality of body weight	4729	NDUFV2	ORPHA:2609
HP:0004323	Abnormality of body weight	4729	NDUFV2	OMIM:618229
HP:0004323	Abnormality of body weight	4694	NDUFA1	ORPHA:2609
HP:0004323	Abnormality of body weight	4720	NDUFS2	ORPHA:2609
HP:0004323	Abnormality of body weight	4720	NDUFS2	OMIM:618228
HP:0004323	Abnormality of body weight	4726	NDUFS6	ORPHA:2609
HP:0004323	Abnormality of body weight	4728	NDUFS8	ORPHA:2609
HP:0004323	Abnormality of body weight	4722	NDUFS3	ORPHA:2609
HP:0004323	Abnormality of body weight	79133	NDUFAF5	ORPHA:2609
HP:0004323	Abnormality of body weight	79133	NDUFAF5	OMIM:618238
HP:0004323	Abnormality of body weight	126328	NDUFA11	ORPHA:2609
HP:0004323	Abnormality of body weight	4709	NDUFB3	ORPHA:2609
HP:0004323	Abnormality of body weight	4709	NDUFB3	OMIM:618246
HP:0004323	Abnormality of body weight	80224	NUBPL	ORPHA:2609
HP:0004323	Abnormality of body weight	29078	NDUFAF4	ORPHA:2609
HP:0004323	Abnormality of body weight	29078	NDUFAF4	OMIM:618237
HP:0004323	Abnormality of body weight	374291	NDUFS7	ORPHA:2609
HP:0004323	Abnormality of body weight	4700	NDUFA6	ORPHA:2609
HP:0004323	Abnormality of body weight	4536	MT-ND2	ORPHA:2609
HP:0004323	Abnormality of body weight	4536	MT-ND2	ORPHA:255210
HP:0004323	Abnormality of body weight	4719	NDUFS1	ORPHA:2609
HP:0004323	Abnormality of body weight	4719	NDUFS1	OMIM:618226
HP:0004323	Abnormality of body weight	4715	NDUFB9	ORPHA:2609
HP:0004323	Abnormality of body weight	3551	IKBKB	OMIM:615592
HP:0004323	Abnormality of body weight	10617	STAMBP	OMIM:614261
HP:0004323	Abnormality of body weight	8367	H4C5	OMIM:619950
HP:0004323	Abnormality of body weight	229	ALDOB	OMIM:229600
HP:0004323	Abnormality of body weight	57128	LYRM4	OMIM:615595
HP:0004323	Abnormality of body weight	197322	ACSF3	OMIM:614265
HP:0004323	Abnormality of body weight	197322	ACSF3	ORPHA:289504
HP:0004323	Abnormality of body weight	3703	STT3A	OMIM:615596
HP:0004323	Abnormality of body weight	3703	STT3A	ORPHA:370921
HP:0004323	Abnormality of body weight	10054	UBA2	OMIM:619959
HP:0004323	Abnormality of body weight	4860	PNP	OMIM:613179
HP:0004323	Abnormality of body weight	2720	GLB1	OMIM:230600
HP:0004323	Abnormality of body weight	80270	HSD3B7	ORPHA:79301
HP:0004323	Abnormality of body weight	80270	HSD3B7	OMIM:607765
HP:0004323	Abnormality of body weight	79783	SUGCT	ORPHA:35706
HP:0004323	Abnormality of body weight	79783	SUGCT	OMIM:231690
HP:0004323	Abnormality of body weight	79848	CSPP1	ORPHA:397715
HP:0004323	Abnormality of body weight	9786	KIAA0586	ORPHA:397715
HP:0004323	Abnormality of body weight	4577	MT-TV	ORPHA:255210
HP:0004323	Abnormality of body weight	4508	MT-ATP6	ORPHA:255210
HP:0004323	Abnormality of body weight	4508	MT-ATP6	ORPHA:225154
HP:0004323	Abnormality of body weight	4566	MT-TK	ORPHA:255210
HP:0004323	Abnormality of body weight	3074	HEXB	ORPHA:309162
HP:0004323	Abnormality of body weight	249	ALPL	OMIM:241500
HP:0004323	Abnormality of body weight	3021	H3-3B	OMIM:619721
HP:0004323	Abnormality of body weight	1644	DDC	ORPHA:35708
HP:0004323	Abnormality of body weight	1528	CYB5A	ORPHA:90796
HP:0004323	Abnormality of body weight	1586	CYP17A1	ORPHA:90796
HP:0004323	Abnormality of body weight	1586	CYP17A1	ORPHA:90793
HP:0004323	Abnormality of body weight	51111	KMT5B	OMIM:617788
HP:0004323	Abnormality of body weight	790	CAD	OMIM:616457
HP:0004323	Abnormality of body weight	6523	SLC5A1	ORPHA:35710
HP:0004323	Abnormality of body weight	6523	SLC5A1	OMIM:606824
HP:0004323	Abnormality of body weight	3284	HSD3B2	ORPHA:90791
HP:0004323	Abnormality of body weight	6440	SFTPC	OMIM:610913
HP:0004323	Abnormality of body weight	23474	ETHE1	ORPHA:51188
HP:0004323	Abnormality of body weight	23474	ETHE1	OMIM:602473
HP:0004323	Abnormality of body weight	137492	VPS37A	ORPHA:319199
HP:0004323	Abnormality of body weight	91869	RFT1	ORPHA:244310
HP:0004323	Abnormality of body weight	91869	RFT1	OMIM:612015
HP:0004323	Abnormality of body weight	4853	NOTCH2	OMIM:102500
HP:0004323	Abnormality of body weight	4853	NOTCH2	ORPHA:955
HP:0004323	Abnormality of body weight	8560	DEGS1	OMIM:618404
HP:0004323	Abnormality of body weight	21	ABCA3	OMIM:610921
HP:0004323	Abnormality of body weight	5567	PRKACB	ORPHA:289
HP:0004323	Abnormality of body weight	2735	GLI1	ORPHA:289
HP:0004323	Abnormality of body weight	2121	EVC	ORPHA:289
HP:0004323	Abnormality of body weight	51626	DYNC2LI1	ORPHA:289
HP:0004323	Abnormality of body weight	132884	EVC2	ORPHA:289
HP:0004323	Abnormality of body weight	652	BMP4	OMIM:607932
HP:0004323	Abnormality of body weight	54872	PIGG	ORPHA:280
HP:0004323	Abnormality of body weight	7469	NELFA	ORPHA:280
HP:0004323	Abnormality of body weight	22872	SEC31A	OMIM:618651
HP:0004323	Abnormality of body weight	54968	TMEM70	OMIM:614052
HP:0004323	Abnormality of body weight	4297	KMT2A	ORPHA:319182
HP:0004323	Abnormality of body weight	4297	KMT2A	OMIM:605130
HP:0004323	Abnormality of body weight	28755	TRAC	OMIM:615387
HP:0004323	Abnormality of body weight	2783	GNB2	OMIM:619503
HP:0004323	Abnormality of body weight	3737	KCNA2	ORPHA:442835
HP:0004323	Abnormality of body weight	1759	DNM1	ORPHA:442835
HP:0004323	Abnormality of body weight	1759	DNM1	OMIM:620352
HP:0004323	Abnormality of body weight	8120	AP3B2	ORPHA:442835
HP:0004323	Abnormality of body weight	10991	SLC38A3	ORPHA:442835
HP:0004323	Abnormality of body weight	3747	KCNC2	ORPHA:442835
HP:0004323	Abnormality of body weight	1917	EEF1A2	ORPHA:442835
HP:0004323	Abnormality of body weight	23219	FBXO28	ORPHA:442835
HP:0004323	Abnormality of body weight	2561	GABRB2	ORPHA:442835
HP:0004323	Abnormality of body weight	8831	SYNGAP1	ORPHA:442835
HP:0004323	Abnormality of body weight	2558	GABRA5	ORPHA:442835
HP:0004323	Abnormality of body weight	2906	GRIN2D	ORPHA:442835
HP:0004323	Abnormality of body weight	2906	GRIN2D	OMIM:617162
HP:0004323	Abnormality of body weight	1213	CLTC	ORPHA:442835
HP:0004323	Abnormality of body weight	51741	WWOX	ORPHA:442835
HP:0004323	Abnormality of body weight	23334	SZT2	ORPHA:442835
HP:0004323	Abnormality of body weight	348980	HCN1	ORPHA:442835
HP:0004323	Abnormality of body weight	25977	NECAP1	ORPHA:442835
HP:0004323	Abnormality of body weight	23241	PACS2	ORPHA:442835
HP:0004323	Abnormality of body weight	6334	SCN8A	ORPHA:442835
HP:0004323	Abnormality of body weight	9568	GABBR2	ORPHA:442835
HP:0004323	Abnormality of body weight	2555	GABRA2	ORPHA:442835
HP:0004323	Abnormality of body weight	55152	DALRD3	ORPHA:442835
HP:0004323	Abnormality of body weight	26999	CYFIP2	ORPHA:442835
HP:0004323	Abnormality of body weight	25973	PARS2	ORPHA:442835
HP:0004323	Abnormality of body weight	23097	CDK19	ORPHA:442835
HP:0004323	Abnormality of body weight	2257	FGF12	ORPHA:442835
HP:0004323	Abnormality of body weight	22906	TRAK1	ORPHA:442835
HP:0004323	Abnormality of body weight	22906	TRAK1	OMIM:618201
HP:0004323	Abnormality of body weight	2566	GABRG2	ORPHA:442835
HP:0004323	Abnormality of body weight	7532	YWHAG	ORPHA:442835
HP:0004323	Abnormality of body weight	79876	UBA5	ORPHA:442835
HP:0004323	Abnormality of body weight	79876	UBA5	OMIM:617132
HP:0004323	Abnormality of body weight	6328	SCN3A	ORPHA:442835
HP:0004323	Abnormality of body weight	6328	SCN3A	OMIM:617938
HP:0004323	Abnormality of body weight	781	CACNA2D1	ORPHA:442835
HP:0004323	Abnormality of body weight	10659	CELF2	ORPHA:442835
HP:0004323	Abnormality of body weight	774	CACNA1B	ORPHA:442835
HP:0004323	Abnormality of body weight	51412	ACTL6B	ORPHA:442835
HP:0004323	Abnormality of body weight	2290	FOXG1	ORPHA:442835
HP:0004323	Abnormality of body weight	6506	SLC1A2	ORPHA:442835
HP:0004323	Abnormality of body weight	8867	SYNJ1	ORPHA:442835
HP:0004323	Abnormality of body weight	3745	KCNB1	ORPHA:442835
HP:0004323	Abnormality of body weight	284111	SLC13A5	ORPHA:442835
HP:0004323	Abnormality of body weight	22866	CNKSR2	ORPHA:442835
HP:0004323	Abnormality of body weight	6323	SCN1A	ORPHA:442835
HP:0004323	Abnormality of body weight	6323	SCN1A	ORPHA:293181
HP:0004323	Abnormality of body weight	55361	PI4K2A	OMIM:620732
HP:0004323	Abnormality of body weight	7092	TLL1	ORPHA:99106
HP:0004323	Abnormality of body weight	8241	RBM10	OMIM:311900
HP:0004323	Abnormality of body weight	8241	RBM10	ORPHA:2886
HP:0004323	Abnormality of body weight	1789	DNMT3B	OMIM:242860
HP:0004323	Abnormality of body weight	54888	NSUN2	ORPHA:235
HP:0004323	Abnormality of body weight	10804	GJB6	ORPHA:477
HP:0004323	Abnormality of body weight	2706	GJB2	ORPHA:477
HP:0004323	Abnormality of body weight	9056	SLC7A7	ORPHA:470
HP:0004323	Abnormality of body weight	9056	SLC7A7	OMIM:222700
HP:0004323	Abnormality of body weight	1182	CLCN3	OMIM:619512
HP:0004323	Abnormality of body weight	142680	SLC34A3	OMIM:241530
HP:0004323	Abnormality of body weight	54914	FOCAD	OMIM:619991
HP:0004323	Abnormality of body weight	9453	GGPS1	OMIM:619518
HP:0004323	Abnormality of body weight	1660	DHX9	OMIM:620988
HP:0004323	Abnormality of body weight	57282	SLC4A10	OMIM:620746
HP:0004323	Abnormality of body weight	2592	GALT	OMIM:230400
HP:0004323	Abnormality of body weight	8021	NUP214	OMIM:618426
HP:0004323	Abnormality of body weight	4191	MDH2	OMIM:617339
HP:0004323	Abnormality of body weight	166785	MMAA	OMIM:251100
HP:0004323	Abnormality of body weight	5551	PRF1	OMIM:603553
HP:0004323	Abnormality of body weight	554	AVPR2	ORPHA:223
HP:0004323	Abnormality of body weight	554	AVPR2	OMIM:304800
HP:0004323	Abnormality of body weight	359	AQP2	ORPHA:223
HP:0004323	Abnormality of body weight	359	AQP2	OMIM:125800
HP:0004323	Abnormality of body weight	9533	POLR1C	OMIM:616494
HP:0004323	Abnormality of body weight	9533	POLR1C	ORPHA:861
HP:0004323	Abnormality of body weight	5971	RELB	OMIM:617585
HP:0004323	Abnormality of body weight	2542	SLC37A4	OMIM:619525
HP:0004323	Abnormality of body weight	2542	SLC37A4	ORPHA:79259
HP:0004323	Abnormality of body weight	57492	ARID1B	ORPHA:251056
HP:0004323	Abnormality of body weight	675	BRCA2	OMIM:605724
HP:0004323	Abnormality of body weight	2271	FH	OMIM:606812
HP:0004323	Abnormality of body weight	57724	EPG5	OMIM:242840
HP:0004323	Abnormality of body weight	51651	PTRH2	OMIM:616263
HP:0004323	Abnormality of body weight	51651	PTRH2	ORPHA:456312
HP:0004323	Abnormality of body weight	5692	PSMB4	OMIM:617591
HP:0004323	Abnormality of body weight	79989	IFT56	OMIM:619534
HP:0004323	Abnormality of body weight	10848	PPP1R13L	OMIM:620519
HP:0004323	Abnormality of body weight	84522	JAGN1	OMIM:616022
HP:0004323	Abnormality of body weight	3930	LBR	OMIM:169400
HP:0004323	Abnormality of body weight	29929	ALG6	ORPHA:79320
HP:0004323	Abnormality of body weight	79087	ALG12	ORPHA:79324
HP:0004323	Abnormality of body weight	79087	ALG12	OMIM:607143
HP:0004323	Abnormality of body weight	10195	ALG3	OMIM:601110
HP:0004323	Abnormality of body weight	6595	SMARCA2	OMIM:601358
HP:0004323	Abnormality of body weight	81704	DOCK8	OMIM:243700
HP:0004323	Abnormality of body weight	27247	NFU1	OMIM:605711
HP:0004323	Abnormality of body weight	57505	AARS2	OMIM:614096
HP:0004323	Abnormality of body weight	51117	COQ4	OMIM:616276
HP:0004323	Abnormality of body weight	3763	KCNJ6	OMIM:614098
HP:0004323	Abnormality of body weight	3763	KCNJ6	ORPHA:435628
HP:0004323	Abnormality of body weight	826	CAPNS1	OMIM:620777
HP:0004323	Abnormality of body weight	6792	CDKL5	ORPHA:1934
HP:0004323	Abnormality of body weight	3736	KCNA1	ORPHA:1934
HP:0004323	Abnormality of body weight	9091	PIGQ	ORPHA:1934
HP:0004323	Abnormality of body weight	140679	SLC32A1	ORPHA:1934
HP:0004323	Abnormality of body weight	2775	GNAO1	ORPHA:1934
HP:0004323	Abnormality of body weight	81603	TRIM8	ORPHA:1934
HP:0004323	Abnormality of body weight	2902	GRIN1	ORPHA:1934
HP:0004323	Abnormality of body weight	79751	SLC25A22	ORPHA:1934
HP:0004323	Abnormality of body weight	79751	SLC25A22	ORPHA:293181
HP:0004323	Abnormality of body weight	150094	SIK1	ORPHA:1934
HP:0004323	Abnormality of body weight	23312	DMXL2	ORPHA:1934
HP:0004323	Abnormality of body weight	170302	ARX	ORPHA:1934
HP:0004323	Abnormality of body weight	6326	SCN2A	ORPHA:1934
HP:0004323	Abnormality of body weight	6326	SCN2A	ORPHA:293181
HP:0004323	Abnormality of body weight	51227	PIGP	ORPHA:1934
HP:0004323	Abnormality of body weight	6324	SCN1B	ORPHA:1934
HP:0004323	Abnormality of body weight	4761	NEUROD2	ORPHA:1934
HP:0004323	Abnormality of body weight	204	AK2	ORPHA:33355
HP:0004323	Abnormality of body weight	9900	SV2A	OMIM:620772
HP:0004323	Abnormality of body weight	846	CASR	OMIM:239200
HP:0004323	Abnormality of body weight	4594	MMUT	ORPHA:79312
HP:0004323	Abnormality of body weight	4594	MMUT	OMIM:251000
HP:0004323	Abnormality of body weight	54808	DYM	ORPHA:239
HP:0004323	Abnormality of body weight	973	CD79A	ORPHA:33110
HP:0004323	Abnormality of body weight	973	CD79A	OMIM:613501
HP:0004323	Abnormality of body weight	974	CD79B	ORPHA:33110
HP:0004323	Abnormality of body weight	6688	SPI1	ORPHA:33110
HP:0004323	Abnormality of body weight	3543	IGLL1	ORPHA:33110
HP:0004323	Abnormality of body weight	29760	BLNK	ORPHA:33110
HP:0004323	Abnormality of body weight	5295	PIK3R1	ORPHA:33110
HP:0004323	Abnormality of body weight	5295	PIK3R1	ORPHA:397596
HP:0004323	Abnormality of body weight	56262	LRRC8A	ORPHA:33110
HP:0004323	Abnormality of body weight	84706	GPT2	OMIM:616281
HP:0004323	Abnormality of body weight	84706	GPT2	ORPHA:477673
HP:0004323	Abnormality of body weight	5076	PAX2	ORPHA:97362
HP:0004323	Abnormality of body weight	5087	PBX1	ORPHA:97362
HP:0004323	Abnormality of body weight	30000	TNPO2	OMIM:619556
HP:0004323	Abnormality of body weight	54892	NCAPG2	OMIM:618460
HP:0004323	Abnormality of body weight	498	ATP5F1A	OMIM:616045
HP:0004323	Abnormality of body weight	498	ATP5F1A	OMIM:620358
HP:0004323	Abnormality of body weight	79705	LRRK1	OMIM:615198
HP:0004323	Abnormality of body weight	51728	POLR3K	OMIM:619310
HP:0004323	Abnormality of body weight	8818	DPM2	ORPHA:329178
HP:0004323	Abnormality of body weight	2202	EFEMP1	OMIM:620780
HP:0004323	Abnormality of body weight	256297	PTF1A	OMIM:609069
HP:0004323	Abnormality of body weight	2627	GATA6	OMIM:600001
HP:0004323	Abnormality of body weight	2627	GATA6	ORPHA:2255
HP:0004323	Abnormality of body weight	58484	NLRC4	OMIM:616050
HP:0004323	Abnormality of body weight	26275	HIBCH	ORPHA:88639
HP:0004323	Abnormality of body weight	26275	HIBCH	OMIM:250620
HP:0004323	Abnormality of body weight	4695	NDUFA2	OMIM:618235
HP:0004323	Abnormality of body weight	29998	BICRA	OMIM:619325
HP:0004323	Abnormality of body weight	6651	SON	OMIM:617140
HP:0004323	Abnormality of body weight	6729	SRP54	OMIM:260400
HP:0004323	Abnormality of body weight	22861	NLRP1	OMIM:617388
HP:0004323	Abnormality of body weight	6263	RYR3	OMIM:620310
HP:0004323	Abnormality of body weight	10166	SLC25A15	ORPHA:415
HP:0004323	Abnormality of body weight	10166	SLC25A15	OMIM:238970
HP:0004323	Abnormality of body weight	79068	FTO	OMIM:612938
HP:0004323	Abnormality of body weight	8869	ST3GAL5	OMIM:609056
HP:0004323	Abnormality of body weight	2530	FUT8	OMIM:618005
HP:0004323	Abnormality of body weight	1956	EGFR	OMIM:616069
HP:0004323	Abnormality of body weight	7019	TFAM	OMIM:617156
HP:0004323	Abnormality of body weight	3394	IRF8	OMIM:226990
HP:0004323	Abnormality of body weight	5831	PYCR1	OMIM:612940
HP:0004323	Abnormality of body weight	51079	NDUFA13	OMIM:618249
HP:0004323	Abnormality of body weight	29920	PYCR2	ORPHA:481152
HP:0004323	Abnormality of body weight	29920	PYCR2	OMIM:616420
HP:0004323	Abnormality of body weight	22845	DOLK	OMIM:610768
HP:0004323	Abnormality of body weight	22845	DOLK	ORPHA:91131
HP:0004323	Abnormality of body weight	10483	SEC23B	ORPHA:201
HP:0004323	Abnormality of body weight	6390	SDHB	ORPHA:201
HP:0004323	Abnormality of body weight	6392	SDHD	ORPHA:201
HP:0004323	Abnormality of body weight	6391	SDHC	ORPHA:201
HP:0004323	Abnormality of body weight	205717	USF3	ORPHA:201
HP:0004323	Abnormality of body weight	100144748	KLLN	ORPHA:201
HP:0004323	Abnormality of body weight	80324	PUS1	OMIM:600462
HP:0004323	Abnormality of body weight	191	AHCY	ORPHA:88618
HP:0004323	Abnormality of body weight	191	AHCY	OMIM:613752
HP:0004323	Abnormality of body weight	9496	TBX4	ORPHA:261279
HP:0004323	Abnormality of body weight	8091	HMGA2	ORPHA:94063
HP:0004323	Abnormality of body weight	23592	LEMD3	ORPHA:94063
HP:0004323	Abnormality of body weight	26276	VPS33B	OMIM:208085
HP:0004323	Abnormality of body weight	4714	NDUFB8	OMIM:618252
HP:0004323	Abnormality of body weight	91039	DPP9	OMIM:620331
HP:0004323	Abnormality of body weight	84701	COX4I2	OMIM:612714
HP:0004323	Abnormality of body weight	2628	GATM	OMIM:612718
HP:0004323	Abnormality of body weight	9791	PTDSS1	OMIM:151050
HP:0004323	Abnormality of body weight	11340	EXOSC8	OMIM:616081
HP:0004323	Abnormality of body weight	11340	EXOSC8	ORPHA:2254
HP:0004323	Abnormality of body weight	35	ACADS	OMIM:201470
HP:0004323	Abnormality of body weight	35	ACADS	ORPHA:26792
HP:0004323	Abnormality of body weight	9420	CYP7B1	OMIM:613812
HP:0004323	Abnormality of body weight	3575	IL7R	ORPHA:39041
HP:0004323	Abnormality of body weight	3575	IL7R	ORPHA:169154
HP:0004323	Abnormality of body weight	84172	POLR1B	ORPHA:861
HP:0004323	Abnormality of body weight	51082	POLR1D	ORPHA:861
HP:0004323	Abnormality of body weight	6949	TCOF1	ORPHA:861
HP:0004323	Abnormality of body weight	374354	NHLRC2	OMIM:618278
HP:0004323	Abnormality of body weight	440138	ALG11	ORPHA:280071
HP:0004323	Abnormality of body weight	23287	AGTPBP1	OMIM:618276
HP:0004323	Abnormality of body weight	23287	AGTPBP1	ORPHA:2254
HP:0004323	Abnormality of body weight	51703	ACSL5	OMIM:620357
HP:0004323	Abnormality of body weight	64093	SMOC1	OMIM:206920
HP:0004323	Abnormality of body weight	64093	SMOC1	ORPHA:1106
HP:0004323	Abnormality of body weight	6299	SALL1	ORPHA:857
HP:0004323	Abnormality of body weight	51339	DACT1	ORPHA:857
HP:0004323	Abnormality of body weight	55898	UNC45A	OMIM:619377
HP:0004323	Abnormality of body weight	23636	NUP62	ORPHA:225154
HP:0004323	Abnormality of body weight	23636	NUP62	OMIM:271930
HP:0004323	Abnormality of body weight	53371	NUP54	ORPHA:225154
HP:0004323	Abnormality of body weight	103	ADAR	ORPHA:225154
HP:0004323	Abnormality of body weight	51371	POMP	OMIM:618048
HP:0004323	Abnormality of body weight	2332	FMR1	ORPHA:261483
HP:0004323	Abnormality of body weight	1984	EIF5A	OMIM:619376
HP:0004323	Abnormality of body weight	210	ALAD	OMIM:612740
HP:0004323	Abnormality of body weight	1583	CYP11A1	ORPHA:168558
HP:0004323	Abnormality of body weight	1583	CYP11A1	ORPHA:289548
HP:0004323	Abnormality of body weight	3295	HSD17B4	OMIM:261515
HP:0004323	Abnormality of body weight	2581	GALC	ORPHA:206436
HP:0004323	Abnormality of body weight	2581	GALC	OMIM:245200
HP:0004323	Abnormality of body weight	5660	PSAP	ORPHA:206436
HP:0004323	Abnormality of body weight	4693	NDP	ORPHA:649
HP:0004323	Abnormality of body weight	124454	EARS2	OMIM:614924
HP:0004323	Abnormality of body weight	23522	KAT6B	ORPHA:3047
HP:0004323	Abnormality of body weight	11011	TLK2	OMIM:618050
HP:0004323	Abnormality of body weight	3735	KARS1	OMIM:619147
HP:0004323	Abnormality of body weight	132001	TAMM41	OMIM:620139
HP:0004323	Abnormality of body weight	54938	SARS2	OMIM:613845
HP:0004323	Abnormality of body weight	4067	LYN	OMIM:620376
HP:0004323	Abnormality of body weight	6584	SLC22A5	OMIM:212140
HP:0004323	Abnormality of body weight	11113	CIT	OMIM:617090
HP:0004323	Abnormality of body weight	4702	NDUFA8	OMIM:619272
HP:0004323	Abnormality of body weight	10128	LRPPRC	OMIM:220111
HP:0004323	Abnormality of body weight	10128	LRPPRC	ORPHA:70472
HP:0004323	Abnormality of body weight	10134	BCAP31	OMIM:300475
HP:0004323	Abnormality of body weight	10134	BCAP31	ORPHA:369939
HP:0004323	Abnormality of body weight	3376	IARS1	OMIM:617093
HP:0004323	Abnormality of body weight	259232	NALCN	ORPHA:2053
HP:0004323	Abnormality of body weight	91574	MTRFR	ORPHA:254930
HP:0004323	Abnormality of body weight	91574	MTRFR	OMIM:613559
HP:0004323	Abnormality of body weight	4570	MT-TN	OMIM:220110
HP:0004323	Abnormality of body weight	6834	SURF1	OMIM:220110
HP:0004323	Abnormality of body weight	57468	SLC12A5	ORPHA:293181
HP:0004323	Abnormality of body weight	23236	PLCB1	ORPHA:293181
HP:0004323	Abnormality of body weight	3785	KCNQ2	ORPHA:293181
HP:0004323	Abnormality of body weight	57582	KCNT1	ORPHA:293181
HP:0004323	Abnormality of body weight	57465	TBC1D24	ORPHA:293181
HP:0004323	Abnormality of body weight	10274	STAG1	ORPHA:502434
HP:0004323	Abnormality of body weight	4774	NFIA	OMIM:613735
HP:0004323	Abnormality of body weight	8496	PPFIBP1	OMIM:620024
HP:0004323	Abnormality of body weight	8443	GNPAT	OMIM:222765
HP:0004323	Abnormality of body weight	6341	SCO1	OMIM:619048
HP:0004323	Abnormality of body weight	162	AP1B1	OMIM:242150
HP:0004323	Abnormality of body weight	1352	COX10	OMIM:619046
HP:0004323	Abnormality of body weight	55163	PNPO	ORPHA:79096
HP:0004323	Abnormality of body weight	55163	PNPO	OMIM:610090
HP:0004323	Abnormality of body weight	7535	ZAP70	OMIM:269840
HP:0004323	Abnormality of body weight	7535	ZAP70	ORPHA:911
HP:0004323	Abnormality of body weight	7298	TYMS	OMIM:620040
HP:0004323	Abnormality of body weight	105371045	PERCC1	ORPHA:92050
HP:0004323	Abnormality of body weight	51360	MBTPS2	ORPHA:2273
HP:0004323	Abnormality of body weight	8647	ABCB11	OMIM:601847
HP:0004323	Abnormality of body weight	100131801	PET100	OMIM:619055
HP:0004323	Abnormality of body weight	3899	AFF3	OMIM:619297
HP:0004323	Abnormality of body weight	1136	CHRNA3	OMIM:191800
HP:0004323	Abnormality of body weight	6499	SKIC2	OMIM:614602
HP:0004323	Abnormality of body weight	340061	STING1	OMIM:615934
HP:0004323	Abnormality of body weight	3117	HLA-DQA1	OMIM:212750
HP:0004323	Abnormality of body weight	55107	ANO1	OMIM:620045
HP:0004323	Abnormality of body weight	7080	NKX2-1	ORPHA:209905
HP:0004323	Abnormality of body weight	5095	PCCA	OMIM:606054
HP:0004323	Abnormality of body weight	5096	PCCB	OMIM:606054
HP:0004323	Abnormality of body weight	1717	DHCR7	OMIM:270400
HP:0004323	Abnormality of body weight	58	ACTA1	ORPHA:2020
HP:0004323	Abnormality of body weight	4633	MYL2	ORPHA:2020
HP:0004323	Abnormality of body weight	3679	ITGA7	ORPHA:2020
HP:0004323	Abnormality of body weight	7169	TPM2	ORPHA:2020
HP:0004323	Abnormality of body weight	9200	HACD1	ORPHA:2020
HP:0004323	Abnormality of body weight	51776	MAP3K20	ORPHA:2020
HP:0004323	Abnormality of body weight	132158	GLYCTK	OMIM:220120
HP:0004323	Abnormality of body weight	28976	ACAD9	ORPHA:99901
HP:0004323	Abnormality of body weight	3265	HRAS	OMIM:218040
HP:0004323	Abnormality of body weight	5826	ABCD4	OMIM:614857
HP:0004323	Abnormality of body weight	8517	IKBKG	ORPHA:98813
HP:0004323	Abnormality of body weight	338328	GPIHBP1	OMIM:615947
HP:0004323	Abnormality of body weight	2697	GJA1	OMIM:257850
HP:0004323	Abnormality of body weight	6521	SLC4A1	OMIM:611590
HP:0004323	Abnormality of body weight	9255	AIMP1	OMIM:260600
HP:0004323	Abnormality of body weight	51010	EXOSC3	ORPHA:2254
HP:0004323	Abnormality of body weight	7443	VRK1	ORPHA:2254
HP:0004323	Abnormality of body weight	91137	SLC25A46	ORPHA:2254
HP:0004323	Abnormality of body weight	23600	AMACR	OMIM:214950
HP:0004323	Abnormality of body weight	6609	SMPD1	OMIM:257200
HP:0004323	Abnormality of body weight	5700	PSMC1	OMIM:620071
HP:0004323	Abnormality of body weight	190	NR0B1	OMIM:300200
HP:0004323	Abnormality of body weight	5293	PIK3CD	ORPHA:397596
HP:0004323	Abnormality of body weight	2548	GAA	ORPHA:308552
HP:0004323	Abnormality of body weight	5159	PDGFRB	OMIM:601812
HP:0004323	Abnormality of body weight	4306	NR3C2	OMIM:177735
HP:0004323	Abnormality of body weight	3845	KRAS	ORPHA:3339
HP:0004323	Abnormality of body weight	3845	KRAS	OMIM:609942
HP:0004323	Abnormality of body weight	1811	SLC26A3	OMIM:214700
HP:0004323	Abnormality of body weight	5832	ALDH18A1	OMIM:219150
HP:0004323	Abnormality of body weight	3187	HNRNPH1	OMIM:620083
HP:0004323	Abnormality of body weight	9342	SNAP29	OMIM:609528
HP:0004323	Abnormality of body weight	64220	STRA6	ORPHA:2470
HP:0004323	Abnormality of body weight	7477	WNT7B	ORPHA:2470
HP:0004323	Abnormality of body weight	5915	RARB	ORPHA:2470
HP:0004323	Abnormality of body weight	23483	TGDS	ORPHA:1388
HP:0004323	Abnormality of body weight	51750	RTEL1	ORPHA:3322
HP:0004323	Abnormality of body weight	65057	ACD	ORPHA:3322
HP:0004323	Abnormality of body weight	26277	TINF2	ORPHA:3322
HP:0004323	Abnormality of body weight	1736	DKC1	ORPHA:3322
HP:0004323	Abnormality of body weight	1736	DKC1	OMIM:301108
HP:0004323	Abnormality of body weight	51067	YARS2	OMIM:613561
HP:0004323	Abnormality of body weight	2703	GJA8	OMIM:612474
HP:0004323	Abnormality of body weight	2702	GJA5	OMIM:612474
HP:0004323	Abnormality of body weight	867	CBL	OMIM:613563
HP:0004323	Abnormality of body weight	55690	PACS1	ORPHA:329224
HP:0004323	Abnormality of body weight	79628	SH3TC2	ORPHA:99949
HP:0004323	Abnormality of body weight	6307	MSMO1	OMIM:616834
HP:0004323	Abnormality of body weight	2200	FBN1	ORPHA:2462
HP:0004323	Abnormality of body weight	55112	DYNC2I1	OMIM:615503
HP:0004323	Abnormality of body weight	63895	PIEZO2	ORPHA:2461
HP:0004323	Abnormality of body weight	1828	DSG1	OMIM:615508
HP:0004323	Abnormality of body weight	6888	TALDO1	OMIM:606003
HP:0004323	Abnormality of body weight	865	CBFB	OMIM:620099
HP:0004323	Abnormality of body weight	2068	ERCC2	ORPHA:910
HP:0004323	Abnormality of body weight	7507	XPA	ORPHA:910
HP:0004323	Abnormality of body weight	2071	ERCC3	ORPHA:910
HP:0004323	Abnormality of body weight	7508	XPC	ORPHA:910
HP:0004323	Abnormality of body weight	1643	DDB2	ORPHA:910
HP:0004323	Abnormality of body weight	2073	ERCC5	ORPHA:910
HP:0004323	Abnormality of body weight	2632	GBE1	OMIM:232500
HP:0004323	Abnormality of body weight	7167	TPI1	OMIM:615512
HP:0004323	Abnormality of body weight	100151683	RNU4ATAC	OMIM:210710
HP:0004323	Abnormality of body weight	3932	LCK	OMIM:615758
HP:0004323	Abnormality of body weight	5250	SLC25A3	ORPHA:91130
HP:0004323	Abnormality of body weight	4173	MCM4	OMIM:609981
HP:0004323	Abnormality of body weight	8050	PDHX	ORPHA:255182
HP:0004323	Abnormality of body weight	10157	AASS	ORPHA:2203
HP:0004323	Abnormality of body weight	23095	KIF1B	OMIM:256700
HP:0004323	Abnormality of body weight	55784	MCTP2	ORPHA:1596
HP:0004323	Abnormality of body weight	59067	IL21	OMIM:615767
HP:0004323	Abnormality of body weight	51116	MRPS2	OMIM:617950
HP:0004323	Abnormality of body weight	9512	PMPCB	OMIM:617954
HP:0004323	Abnormality of body weight	2058	EPRS1	OMIM:617951
HP:0004323	Abnormality of body weight	10095	ARPC1B	OMIM:617718
HP:0004323	Abnormality of body weight	91647	ATPAF2	OMIM:604273
HP:0004323	Abnormality of body weight	3758	KCNJ1	OMIM:241200
HP:0004323	Abnormality of body weight	54664	TMEM106B	OMIM:617964
HP:0004323	Abnormality of body weight	7421	VDR	OMIM:277440
HP:0004323	Abnormality of body weight	89874	SLC25A21	OMIM:618811
HP:0004323	Abnormality of body weight	55644	OSGEP	OMIM:617729
HP:0004323	Abnormality of body weight	2584	GALK1	ORPHA:79237
HP:0004323	Abnormality of body weight	51501	HIKESHI	OMIM:616881
HP:0004323	Abnormality of body weight	5205	ATP8B1	OMIM:211600
HP:0004323	Abnormality of body weight	6925	TCF4	ORPHA:2896
HP:0004323	Abnormality of body weight	189	AGXT	ORPHA:93598
HP:0004323	Abnormality of body weight	7204	TRIO	ORPHA:476126
HP:0004323	Abnormality of body weight	4780	NFE2L2	OMIM:617744
HP:0004323	Abnormality of body weight	11005	SPINK5	OMIM:256500
HP:0004323	Abnormality of body weight	2670	GFAP	ORPHA:363717
HP:0004323	Abnormality of body weight	5500	PPP1CB	OMIM:617506
HP:0004323	Abnormality of body weight	54676	GTPBP2	OMIM:617988
HP:0004323	Abnormality of body weight	100506658	OCLN	OMIM:251290
HP:0004323	Abnormality of body weight	6519	SLC3A1	ORPHA:163690
HP:0004323	Abnormality of body weight	6519	SLC3A1	ORPHA:163693
HP:0004323	Abnormality of body weight	9581	PREPL	ORPHA:163690
HP:0004323	Abnormality of body weight	9581	PREPL	ORPHA:163693
HP:0004323	Abnormality of body weight	5495	PPM1B	ORPHA:163693
HP:0004323	Abnormality of body weight	79823	CAMKMT	ORPHA:163693
HP:0004323	Abnormality of body weight	6337	SCNN1A	OMIM:264350
HP:0004323	Abnormality of body weight	9414	TJP2	OMIM:607748
HP:0004323	Abnormality of body weight	4841	NONO	ORPHA:466791
HP:0004323	Abnormality of body weight	2819	GPD1	OMIM:614480
HP:0004323	Abnormality of body weight	139818	DOCK11	OMIM:301109
HP:0004323	Abnormality of body weight	440	ASNS	OMIM:615574
HP:0004323	Abnormality of body weight	27040	LAT	OMIM:617514
HP:0004323	Abnormality of body weight	738	VPS51	OMIM:618606
HP:0004323	Abnormality of body weight	8815	BANF1	OMIM:614008
HP:0004323	Abnormality of body weight	25974	MMACHC	ORPHA:79282
HP:0004323	Abnormality of body weight	25974	MMACHC	OMIM:277400
HP:0004323	Abnormality of body weight	27249	MMADHC	ORPHA:79283
HP:0004323	Abnormality of body weight	5430	POLR2A	OMIM:618603
HP:0004323	Abnormality of body weight	1807	DPYS	OMIM:222748
HP:0004323	Abnormality of body weight	6223	RPS19	OMIM:105650
HP:0004323	Abnormality of body weight	2639	GCDH	OMIM:231670
HP:0004323	Abnormality of body weight	101929726	MYMX	OMIM:619941
HP:0004323	Abnormality of body weight	8803	SUCLA2	OMIM:612073
HP:0004323	Abnormality of body weight	92935	MARS2	OMIM:616430
HP:0004323	Abnormality of body weight	79587	CARS2	OMIM:616672
HP:0004323	Abnormality of body weight	7372	UMPS	OMIM:258900
HP:0004323	Abnormality of body weight	55753	OGDHL	OMIM:619701
HP:0004323	Abnormality of body weight	5052	PRDX1	OMIM:277400
HP:0004323	Abnormality of body weight	2582	GALE	OMIM:230350
HP:0004323	Abnormality of body weight	11198	SUPT16H	ORPHA:261229
HP:0004323	Abnormality of body weight	57680	CHD8	ORPHA:261229
HP:0004323	Abnormality of body weight	25970	SH2B1	ORPHA:261222
HP:0004323	Abnormality of body weight	25970	SH2B1	ORPHA:329249
HP:0004323	Abnormality of body weight	25970	SH2B1	ORPHA:261197
HP:0004323	Abnormality of body weight	27316	RBMX	OMIM:300238
HP:0004323	Abnormality of body weight	27316	RBMX	ORPHA:85286
HP:0004323	Abnormality of body weight	63036	CELA2A	OMIM:618620
HP:0004323	Abnormality of body weight	5728	PTEN	OMIM:605309
HP:0004323	Abnormality of body weight	583	BBS2	OMIM:616562
HP:0004323	Abnormality of body weight	583	BBS2	ORPHA:110
HP:0004323	Abnormality of body weight	583	BBS2	OMIM:615981
HP:0004323	Abnormality of body weight	11284	PNKP	ORPHA:459033
HP:0004323	Abnormality of body weight	11284	PNKP	OMIM:616267
HP:0004323	Abnormality of body weight	123263	MTFMT	OMIM:614947
HP:0004323	Abnormality of body weight	10159	ATP6AP2	ORPHA:93952
HP:0004323	Abnormality of body weight	23126	POGZ	ORPHA:468678
HP:0004323	Abnormality of body weight	23126	POGZ	OMIM:616364
HP:0004323	Abnormality of body weight	9690	UBE3C	OMIM:620270
HP:0004323	Abnormality of body weight	149775	GNAS-AS1	OMIM:603233
HP:0004323	Abnormality of body weight	8675	STX16	OMIM:603233
HP:0004323	Abnormality of body weight	7552	ZNF711	OMIM:300803
HP:0004323	Abnormality of body weight	54681	P4HTM	ORPHA:436141
HP:0004323	Abnormality of body weight	54681	P4HTM	OMIM:618493
HP:0004323	Abnormality of body weight	2314	FLII	ORPHA:819
HP:0004323	Abnormality of body weight	23096	IQSEC2	ORPHA:819
HP:0004323	Abnormality of body weight	23096	IQSEC2	ORPHA:217377
HP:0004323	Abnormality of body weight	10522	DEAF1	ORPHA:819
HP:0004323	Abnormality of body weight	9915	ARNT2	OMIM:615926
HP:0004323	Abnormality of body weight	9915	ARNT2	ORPHA:3157
HP:0004323	Abnormality of body weight	10908	PNPLA6	OMIM:275400
HP:0004323	Abnormality of body weight	10908	PNPLA6	ORPHA:2377
HP:0004323	Abnormality of body weight	10908	PNPLA6	OMIM:245800
HP:0004323	Abnormality of body weight	55780	ERMARD	ORPHA:75857
HP:0004323	Abnormality of body weight	29072	SETD2	OMIM:620155
HP:0004323	Abnormality of body weight	29072	SETD2	OMIM:616831
HP:0004323	Abnormality of body weight	6926	TBX3	ORPHA:3138
HP:0004323	Abnormality of body weight	6926	TBX3	OMIM:181450
HP:0004323	Abnormality of body weight	1300	COL10A1	ORPHA:174
HP:0004323	Abnormality of body weight	28958	COA3	OMIM:619058
HP:0004323	Abnormality of body weight	9739	SETD1A	OMIM:619056
HP:0004323	Abnormality of body weight	80204	FBXO11	OMIM:618089
HP:0004323	Abnormality of body weight	9692	PRORP	OMIM:619737
HP:0004323	Abnormality of body weight	4160	MC4R	OMIM:618406
HP:0004323	Abnormality of body weight	4160	MC4R	ORPHA:71529
HP:0004323	Abnormality of body weight	3952	LEP	OMIM:614962
HP:0004323	Abnormality of body weight	3952	LEP	ORPHA:66628
HP:0004323	Abnormality of body weight	2770	GNAI1	OMIM:619854
HP:0004323	Abnormality of body weight	22897	CEP164	OMIM:614845
HP:0004323	Abnormality of body weight	3953	LEPR	OMIM:614963
HP:0004323	Abnormality of body weight	3953	LEPR	ORPHA:179494
HP:0004323	Abnormality of body weight	84100	ARL6	OMIM:209900
HP:0004323	Abnormality of body weight	84100	ARL6	ORPHA:110
HP:0004323	Abnormality of body weight	84100	ARL6	OMIM:600151
HP:0004323	Abnormality of body weight	79140	CCDC28B	OMIM:209900
HP:0004323	Abnormality of body weight	582	BBS1	OMIM:209900
HP:0004323	Abnormality of body weight	582	BBS1	ORPHA:110
HP:0004323	Abnormality of body weight	7840	ALMS1	OMIM:203800
HP:0004323	Abnormality of body weight	7840	ALMS1	ORPHA:64
HP:0004323	Abnormality of body weight	1581	CYP7A1	ORPHA:209902
HP:0004323	Abnormality of body weight	2626	GATA4	ORPHA:251071
HP:0004323	Abnormality of body weight	23116	TOGARAM1	OMIM:619185
HP:0004323	Abnormality of body weight	6872	TAF1	ORPHA:480907
HP:0004323	Abnormality of body weight	57531	HACE1	ORPHA:464282
HP:0004323	Abnormality of body weight	57531	HACE1	OMIM:616756
HP:0004323	Abnormality of body weight	6899	TBX1	OMIM:188400
HP:0004323	Abnormality of body weight	6899	TBX1	ORPHA:567
HP:0004323	Abnormality of body weight	1656	DDX6	OMIM:618653
HP:0004323	Abnormality of body weight	80208	SPG11	ORPHA:2822
HP:0004323	Abnormality of body weight	80208	SPG11	OMIM:604360
HP:0004323	Abnormality of body weight	79813	EHMT1	OMIM:610253
HP:0004323	Abnormality of body weight	79813	EHMT1	ORPHA:96147
HP:0004323	Abnormality of body weight	5144	PDE4D	OMIM:614613
HP:0004323	Abnormality of body weight	5144	PDE4D	ORPHA:439822
HP:0004323	Abnormality of body weight	4915	NTRK2	OMIM:613886
HP:0004323	Abnormality of body weight	1954	MEGF8	OMIM:614976
HP:0004323	Abnormality of body weight	1954	MEGF8	ORPHA:65759
HP:0004323	Abnormality of body weight	84984	CEP19	OMIM:615703
HP:0004323	Abnormality of body weight	84984	CEP19	ORPHA:110
HP:0004323	Abnormality of body weight	25942	SIN3A	OMIM:613406
HP:0004323	Abnormality of body weight	25942	SIN3A	ORPHA:94065
HP:0004323	Abnormality of body weight	54496	PRMT7	ORPHA:464288
HP:0004323	Abnormality of body weight	54496	PRMT7	OMIM:617157
HP:0004323	Abnormality of body weight	5080	PAX6	OMIM:194072
HP:0004323	Abnormality of body weight	5080	PAX6	ORPHA:893
HP:0004323	Abnormality of body weight	7490	WT1	OMIM:194072
HP:0004323	Abnormality of body weight	7490	WT1	ORPHA:893
HP:0004323	Abnormality of body weight	1588	CYP19A1	ORPHA:91
HP:0004323	Abnormality of body weight	30011	SH3KBP1	OMIM:300310
HP:0004323	Abnormality of body weight	92482	BBIP1	ORPHA:110
HP:0004323	Abnormality of body weight	92482	BBIP1	OMIM:615995
HP:0004323	Abnormality of body weight	80184	CEP290	ORPHA:110
HP:0004323	Abnormality of body weight	80184	CEP290	OMIM:615991
HP:0004323	Abnormality of body weight	11020	IFT27	ORPHA:110
HP:0004323	Abnormality of body weight	11020	IFT27	OMIM:615996
HP:0004323	Abnormality of body weight	49855	SCAPER	ORPHA:110
HP:0004323	Abnormality of body weight	4867	NPHP1	ORPHA:110
HP:0004323	Abnormality of body weight	51057	WDPCP	ORPHA:110
HP:0004323	Abnormality of body weight	132320	SCLT1	ORPHA:110
HP:0004323	Abnormality of body weight	27241	BBS9	ORPHA:110
HP:0004323	Abnormality of body weight	27241	BBS9	OMIM:615986
HP:0004323	Abnormality of body weight	22954	TRIM32	ORPHA:110
HP:0004323	Abnormality of body weight	22954	TRIM32	OMIM:615988
HP:0004323	Abnormality of body weight	54903	MKS1	ORPHA:110
HP:0004323	Abnormality of body weight	54903	MKS1	OMIM:615990
HP:0004323	Abnormality of body weight	79738	BBS10	ORPHA:110
HP:0004323	Abnormality of body weight	79738	BBS10	OMIM:615987
HP:0004323	Abnormality of body weight	123016	TTC8	ORPHA:110
HP:0004323	Abnormality of body weight	123016	TTC8	OMIM:615985
HP:0004323	Abnormality of body weight	123016	TTC8	OMIM:613464
HP:0004323	Abnormality of body weight	26160	IFT172	ORPHA:110
HP:0004323	Abnormality of body weight	26160	IFT172	OMIM:615630
HP:0004323	Abnormality of body weight	26160	IFT172	OMIM:619471
HP:0004323	Abnormality of body weight	585	BBS4	ORPHA:110
HP:0004323	Abnormality of body weight	585	BBS4	OMIM:615982
HP:0004323	Abnormality of body weight	8195	MKKS	ORPHA:110
HP:0004323	Abnormality of body weight	8195	MKKS	OMIM:605231
HP:0004323	Abnormality of body weight	54585	LZTFL1	ORPHA:110
HP:0004323	Abnormality of body weight	54585	LZTFL1	OMIM:615994
HP:0004323	Abnormality of body weight	55212	BBS7	ORPHA:110
HP:0004323	Abnormality of body weight	55212	BBS7	OMIM:615984
HP:0004323	Abnormality of body weight	166379	BBS12	ORPHA:110
HP:0004323	Abnormality of body weight	166379	BBS12	OMIM:615989
HP:0004323	Abnormality of body weight	10806	SDCCAG8	ORPHA:110
HP:0004323	Abnormality of body weight	10806	SDCCAG8	OMIM:615993
HP:0004323	Abnormality of body weight	157657	CFAP418	ORPHA:110
HP:0004323	Abnormality of body weight	157657	CFAP418	OMIM:617406
HP:0004323	Abnormality of body weight	129880	BBS5	ORPHA:110
HP:0004323	Abnormality of body weight	129880	BBS5	OMIM:615983
HP:0004323	Abnormality of body weight	80173	IFT74	ORPHA:110
HP:0004323	Abnormality of body weight	80173	IFT74	OMIM:617119
HP:0004323	Abnormality of body weight	57498	KIDINS220	ORPHA:521390
HP:0004323	Abnormality of body weight	57498	KIDINS220	OMIM:617296
HP:0004323	Abnormality of body weight	27125	AFF4	OMIM:616368
HP:0004323	Abnormality of body weight	27125	AFF4	ORPHA:444077
HP:0004323	Abnormality of body weight	4808	NHLH2	OMIM:619755
HP:0004323	Abnormality of body weight	6804	STX1A	ORPHA:904
HP:0004323	Abnormality of body weight	7461	CLIP2	ORPHA:904
HP:0004323	Abnormality of body weight	84277	DNAJC30	ORPHA:904
HP:0004323	Abnormality of body weight	8468	FKBP6	ORPHA:904
HP:0004323	Abnormality of body weight	5982	RFC2	ORPHA:904
HP:0004323	Abnormality of body weight	2969	GTF2I	ORPHA:904
HP:0004323	Abnormality of body weight	3984	LIMK1	ORPHA:904
HP:0004323	Abnormality of body weight	9569	GTF2IRD1	ORPHA:904
HP:0004323	Abnormality of body weight	155382	VPS37D	ORPHA:904
HP:0004323	Abnormality of body weight	155368	METTL27	ORPHA:904
HP:0004323	Abnormality of body weight	114049	BUD23	ORPHA:904
HP:0004323	Abnormality of body weight	7458	EIF4H	ORPHA:904
HP:0004323	Abnormality of body weight	84163	GTF2IRD2	ORPHA:904
HP:0004323	Abnormality of body weight	26608	TBL2	ORPHA:904
HP:0004323	Abnormality of body weight	653361	NCF1	ORPHA:904
HP:0004323	Abnormality of body weight	135886	TMEM270	ORPHA:904
HP:0004323	Abnormality of body weight	9031	BAZ1B	ORPHA:904
HP:0004323	Abnormality of body weight	2006	ELN	ORPHA:904
HP:0004323	Abnormality of body weight	2006	ELN	OMIM:194050
HP:0004323	Abnormality of body weight	8314	BAP1	ORPHA:2495
HP:0004323	Abnormality of body weight	4771	NF2	ORPHA:2495
HP:0004323	Abnormality of body weight	6598	SMARCB1	ORPHA:2495
HP:0004323	Abnormality of body weight	5155	PDGFB	ORPHA:2495
HP:0004323	Abnormality of body weight	6608	SMO	ORPHA:2495
HP:0004323	Abnormality of body weight	207	AKT1	ORPHA:2495
HP:0004323	Abnormality of body weight	5290	PIK3CA	ORPHA:2495
HP:0004323	Abnormality of body weight	51684	SUFU	ORPHA:2495
HP:0004323	Abnormality of body weight	6605	SMARCE1	ORPHA:2495
HP:0004323	Abnormality of body weight	5590	PRKCZ	ORPHA:1606
HP:0004323	Abnormality of body weight	2563	GABRD	ORPHA:1606
HP:0004323	Abnormality of body weight	23013	SPEN	ORPHA:1606
HP:0004323	Abnormality of body weight	23013	SPEN	OMIM:619312
HP:0004323	Abnormality of body weight	8510	MMP23B	ORPHA:1606
HP:0004323	Abnormality of body weight	7798	LUZP1	ORPHA:1606
HP:0004323	Abnormality of body weight	6497	SKI	ORPHA:1606
HP:0004323	Abnormality of body weight	10630	PDPN	ORPHA:1606
HP:0004323	Abnormality of body weight	10277	UBE4B	ORPHA:1606
HP:0004323	Abnormality of body weight	8514	KCNAB2	ORPHA:1606
HP:0004323	Abnormality of body weight	473	RERE	ORPHA:1606
HP:0004323	Abnormality of body weight	63976	PRDM16	ORPHA:1606
HP:0004323	Abnormality of body weight	54897	CASZ1	ORPHA:1606
HP:0004323	Abnormality of body weight	7337	UBE3A	OMIM:105830
HP:0004323	Abnormality of body weight	7337	UBE3A	ORPHA:98794
HP:0004323	Abnormality of body weight	7337	UBE3A	ORPHA:411511
HP:0004323	Abnormality of body weight	7337	UBE3A	ORPHA:411515
HP:0004323	Abnormality of body weight	6638	SNRPN	OMIM:105830
HP:0004323	Abnormality of body weight	6638	SNRPN	ORPHA:98754
HP:0004323	Abnormality of body weight	6638	SNRPN	ORPHA:177904
HP:0004323	Abnormality of body weight	6638	SNRPN	ORPHA:177901
HP:0004323	Abnormality of body weight	6638	SNRPN	ORPHA:177910
HP:0004323	Abnormality of body weight	6638	SNRPN	ORPHA:177907
HP:0004323	Abnormality of body weight	6638	SNRPN	ORPHA:411515
HP:0004323	Abnormality of body weight	100134444	KCNJ18	ORPHA:79102
HP:0004323	Abnormality of body weight	2556	GABRA3	ORPHA:79102
HP:0004323	Abnormality of body weight	779	CACNA1S	ORPHA:79102
HP:0004323	Abnormality of body weight	55027	HEATR3	OMIM:620072
HP:0004323	Abnormality of body weight	283209	PGM2L1	OMIM:620191
HP:0004323	Abnormality of body weight	5244	ABCB4	ORPHA:69663
HP:0004323	Abnormality of body weight	4089	SMAD4	OMIM:139210
HP:0004323	Abnormality of body weight	130340	AP1S3	ORPHA:247353
HP:0004323	Abnormality of body weight	26525	IL36RN	ORPHA:247353
HP:0004323	Abnormality of body weight	6942	TCF20	OMIM:618430
HP:0004323	Abnormality of body weight	57466	SCAF4	OMIM:620511
HP:0004323	Abnormality of body weight	51085	MLXIPL	OMIM:194050
HP:0004323	Abnormality of body weight	4205	MEF2A	OMIM:608320
HP:0004323	Abnormality of body weight	6473	SHOX	ORPHA:314795
HP:0004323	Abnormality of body weight	124583	CANT1	OMIM:251450
HP:0004323	Abnormality of body weight	4692	NDN	ORPHA:98754
HP:0004323	Abnormality of body weight	4692	NDN	ORPHA:177904
HP:0004323	Abnormality of body weight	4692	NDN	ORPHA:177901
HP:0004323	Abnormality of body weight	4692	NDN	ORPHA:177910
HP:0004323	Abnormality of body weight	4948	OCA2	ORPHA:98754
HP:0004323	Abnormality of body weight	4948	OCA2	ORPHA:98794
HP:0004323	Abnormality of body weight	4948	OCA2	ORPHA:177904
HP:0004323	Abnormality of body weight	4948	OCA2	ORPHA:177901
HP:0004323	Abnormality of body weight	7030	TFE3	OMIM:301066
HP:0004323	Abnormality of body weight	5122	PCSK1	OMIM:600955
HP:0004323	Abnormality of body weight	5122	PCSK1	ORPHA:71528
HP:0004323	Abnormality of body weight	23162	MAPK8IP3	OMIM:618443
HP:0004323	Abnormality of body weight	27086	FOXP1	OMIM:613670
HP:0004323	Abnormality of body weight	26047	CNTNAP2	OMIM:610042
HP:0004323	Abnormality of body weight	26047	CNTNAP2	ORPHA:163681
HP:0004323	Abnormality of body weight	81887	LAS1L	OMIM:309585
HP:0004323	Abnormality of body weight	51322	WAC	ORPHA:466950
HP:0004323	Abnormality of body weight	51199	NIN	ORPHA:319675
HP:0004323	Abnormality of body weight	2273	FHL1	ORPHA:98863
HP:0004323	Abnormality of body weight	2010	EMD	ORPHA:98863
HP:0004323	Abnormality of body weight	23590	PDSS1	OMIM:614651
HP:0004323	Abnormality of body weight	1642	DDB1	OMIM:619426
HP:0004323	Abnormality of body weight	5908	RAP1B	OMIM:620654
HP:0004323	Abnormality of body weight	2260	FGFR1	ORPHA:478
HP:0004323	Abnormality of body weight	2260	FGFR1	ORPHA:3157
HP:0004323	Abnormality of body weight	10371	SEMA3A	ORPHA:478
HP:0004323	Abnormality of body weight	81848	SPRY4	ORPHA:478
HP:0004323	Abnormality of body weight	23767	FLRT3	ORPHA:478
HP:0004323	Abnormality of body weight	128674	PROKR2	ORPHA:478
HP:0004323	Abnormality of body weight	128674	PROKR2	ORPHA:3157
HP:0004323	Abnormality of body weight	79625	NDNF	ORPHA:478
HP:0004323	Abnormality of body weight	2253	FGF8	ORPHA:478
HP:0004323	Abnormality of body weight	389549	FEZF1	ORPHA:478
HP:0004323	Abnormality of body weight	1630	DCC	ORPHA:478
HP:0004323	Abnormality of body weight	3730	ANOS1	ORPHA:478
HP:0004323	Abnormality of body weight	54756	IL17RD	ORPHA:478
HP:0004323	Abnormality of body weight	6663	SOX10	ORPHA:478
HP:0004323	Abnormality of body weight	285025	CCDC141	ORPHA:478
HP:0004323	Abnormality of body weight	60675	PROK2	ORPHA:478
HP:0004323	Abnormality of body weight	60675	PROK2	OMIM:610628
HP:0004323	Abnormality of body weight	55636	CHD7	ORPHA:478
HP:0004323	Abnormality of body weight	1848	DUSP6	ORPHA:478
HP:0004323	Abnormality of body weight	6870	TACR3	ORPHA:478
HP:0004323	Abnormality of body weight	55717	WDR11	ORPHA:478
HP:0004323	Abnormality of body weight	9394	HS6ST1	ORPHA:478
HP:0004323	Abnormality of body weight	8820	HESX1	ORPHA:478
HP:0004323	Abnormality of body weight	8820	HESX1	ORPHA:3157
HP:0004323	Abnormality of body weight	8822	FGF17	ORPHA:478
HP:0004323	Abnormality of body weight	79188	TMEM43	ORPHA:98853
HP:0004323	Abnormality of body weight	23345	SYNE1	ORPHA:98853
HP:0004323	Abnormality of body weight	23224	SYNE2	ORPHA:98853
HP:0004323	Abnormality of body weight	8462	KLF11	ORPHA:552
HP:0004323	Abnormality of body weight	2645	GCK	ORPHA:552
HP:0004323	Abnormality of body weight	26060	APPL1	ORPHA:552
HP:0004323	Abnormality of body weight	640	BLK	ORPHA:552
HP:0004323	Abnormality of body weight	640	BLK	OMIM:613375
HP:0004323	Abnormality of body weight	1056	CEL	ORPHA:552
HP:0004323	Abnormality of body weight	4760	NEUROD1	ORPHA:552
HP:0004323	Abnormality of body weight	3651	PDX1	ORPHA:552
HP:0004323	Abnormality of body weight	6833	ABCC8	ORPHA:552
HP:0004323	Abnormality of body weight	5078	PAX4	ORPHA:552
HP:0004323	Abnormality of body weight	6927	HNF1A	ORPHA:552
HP:0004323	Abnormality of body weight	3630	INS	ORPHA:552
HP:0004323	Abnormality of body weight	388015	RTL1	ORPHA:254531
HP:0004323	Abnormality of body weight	388015	RTL1	ORPHA:254525
HP:0004323	Abnormality of body weight	388015	RTL1	ORPHA:96184
HP:0004323	Abnormality of body weight	8788	DLK1	ORPHA:254531
HP:0004323	Abnormality of body weight	8788	DLK1	ORPHA:254525
HP:0004323	Abnormality of body weight	8788	DLK1	ORPHA:96184
HP:0004323	Abnormality of body weight	55384	MEG3	ORPHA:254531
HP:0004323	Abnormality of body weight	55384	MEG3	ORPHA:254525
HP:0004323	Abnormality of body weight	55384	MEG3	ORPHA:96184
HP:0004323	Abnormality of body weight	55217	TMLHE	OMIM:300872
HP:0004323	Abnormality of body weight	2245	FGD1	OMIM:305400
HP:0004323	Abnormality of body weight	6492	SIM1	ORPHA:369873
HP:0004323	Abnormality of body weight	6492	SIM1	ORPHA:171829
HP:0004323	Abnormality of body weight	6492	SIM1	ORPHA:398079
HP:0004323	Abnormality of body weight	91147	TMEM67	OMIM:615991
HP:0004323	Abnormality of body weight	89891	DYNC2I2	OMIM:615633
HP:0004323	Abnormality of body weight	3290	HSD11B1	OMIM:614662
HP:0004323	Abnormality of body weight	23394	ADNP	OMIM:615873
HP:0004323	Abnormality of body weight	9759	HDAC4	ORPHA:1001
HP:0004323	Abnormality of body weight	9759	HDAC4	OMIM:600430
HP:0004323	Abnormality of body weight	5443	POMC	ORPHA:71526
HP:0004323	Abnormality of body weight	5443	POMC	OMIM:609734
HP:0004323	Abnormality of body weight	5443	POMC	OMIM:601665
HP:0004323	Abnormality of body weight	84320	ACBD6	OMIM:620785
HP:0004323	Abnormality of body weight	100033413	SNORD116-1	OMIM:176270
HP:0004323	Abnormality of body weight	8924	HERC2	OMIM:176270
HP:0004323	Abnormality of body weight	23742	NPAP1	OMIM:176270
HP:0004323	Abnormality of body weight	338433	SNORD115-1	OMIM:176270
HP:0004323	Abnormality of body weight	7681	MKRN3	OMIM:176270
HP:0004323	Abnormality of body weight	145624	PWAR1	OMIM:176270
HP:0004323	Abnormality of body weight	3653	IPW	OMIM:176270
HP:0004323	Abnormality of body weight	791114	PWRN1	OMIM:176270
HP:0004323	Abnormality of body weight	5575	PRKAR1B	OMIM:619680
HP:0004323	Abnormality of body weight	1387	CREBBP	ORPHA:353281
HP:0004323	Abnormality of body weight	1387	CREBBP	ORPHA:353277
HP:0004323	Abnormality of body weight	79048	SECISBP2	ORPHA:171706
HP:0004323	Abnormality of body weight	8085	KMT2D	ORPHA:2322
HP:0004323	Abnormality of body weight	8085	KMT2D	OMIM:147920
HP:0004323	Abnormality of body weight	23524	SRRM2	OMIM:620439
HP:0004323	Abnormality of body weight	1363	CPE	OMIM:619326
HP:0004323	Abnormality of body weight	2033	EP300	ORPHA:353284
HP:0004323	Abnormality of body weight	348	APOE	ORPHA:412
HP:0004323	Abnormality of body weight	8888	MCM3AP	OMIM:618124
HP:0004323	Abnormality of body weight	84068	SLC10A7	OMIM:618363
HP:0004323	Abnormality of body weight	7275	TUB	OMIM:616188
HP:0004323	Abnormality of body weight	11253	MAN1B1	OMIM:614202
HP:0004323	Abnormality of body weight	291	SLC25A4	OMIM:615418
HP:0004323	Abnormality of body weight	26146	TRAF3IP1	OMIM:616629
HP:0004323	Abnormality of body weight	1312	COMT	ORPHA:567
HP:0004323	Abnormality of body weight	221037	JMJD1C	ORPHA:567
HP:0004323	Abnormality of body weight	2812	GP1BB	ORPHA:567
HP:0004323	Abnormality of body weight	6239	RREB1	ORPHA:567
HP:0004323	Abnormality of body weight	7290	HIRA	ORPHA:567
HP:0004323	Abnormality of body weight	9632	SEC24C	ORPHA:567
HP:0004323	Abnormality of body weight	7353	UFD1	ORPHA:567
HP:0004323	Abnormality of body weight	421	ARVCF	ORPHA:567
HP:0004323	Abnormality of body weight	2261	FGFR3	ORPHA:15
HP:0004323	Abnormality of body weight	26040	SETBP1	OMIM:616078
HP:0004323	Abnormality of body weight	83696	TRAPPC9	ORPHA:352530
HP:0004323	Abnormality of body weight	23395	LARS2	OMIM:615300
HP:0004323	Abnormality of body weight	208	AKT2	OMIM:240900
HP:0004323	Abnormality of body weight	9049	AIP	OMIM:219090
HP:0004323	Abnormality of body weight	51715	RAB23	ORPHA:65759
HP:0004323	Abnormality of body weight	51715	RAB23	OMIM:201000
HP:0004323	Abnormality of body weight	9563	H6PD	OMIM:604931
HP:0004323	Abnormality of body weight	155	ADRB3	OMIM:601665
HP:0004323	Abnormality of body weight	5167	ENPP1	OMIM:601665
HP:0004323	Abnormality of body weight	7352	UCP3	OMIM:601665
HP:0004323	Abnormality of body weight	8431	NR0B2	OMIM:601665
HP:0004323	Abnormality of body weight	9607	CARTPT	OMIM:601665
HP:0004323	Abnormality of body weight	51738	GHRL	OMIM:601665
HP:0004323	Abnormality of body weight	9672	SDC3	OMIM:601665
HP:0004323	Abnormality of body weight	181	AGRP	OMIM:601665
HP:0004323	Abnormality of body weight	5468	PPARG	OMIM:601665
HP:0004323	Abnormality of body weight	157680	VPS13B	ORPHA:193
HP:0004323	Abnormality of body weight	51604	PIGT	ORPHA:369837
HP:0004323	Abnormality of body weight	23040	MYT1L	OMIM:616521
HP:0004323	Abnormality of body weight	23040	MYT1L	ORPHA:647799
HP:0004323	Abnormality of body weight	54361	WNT4	ORPHA:247768
HP:0004323	Abnormality of body weight	91461	PKDCC	OMIM:618821
HP:0004323	Abnormality of body weight	8087	FXR1	OMIM:618822
HP:0004323	Abnormality of body weight	63932	STEEP1	OMIM:301013
HP:0004323	Abnormality of body weight	213	ALB	ORPHA:86816
HP:0004323	Abnormality of body weight	200894	ARL13B	OMIM:612291
HP:0004323	Abnormality of body weight	51124	IER3IP1	OMIM:614231
HP:0004323	Abnormality of body weight	23233	EXOC6B	OMIM:618395
HP:0004323	Abnormality of body weight	8450	CUL4B	ORPHA:85293
HP:0004323	Abnormality of body weight	5456	POU3F4	ORPHA:1435
HP:0004323	Abnormality of body weight	627	BDNF	ORPHA:893
HP:0004323	Abnormality of body weight	84295	PHF6	OMIM:301900
HP:0004323	Abnormality of body weight	1512	CTSH	ORPHA:2073
HP:0004323	Abnormality of body weight	5032	P2RY11	ORPHA:2073
HP:0004323	Abnormality of body weight	4340	MOG	ORPHA:2073
HP:0004323	Abnormality of body weight	4340	MOG	OMIM:614250
HP:0004323	Abnormality of body weight	3119	HLA-DQB1	ORPHA:2073
HP:0004323	Abnormality of body weight	3060	HCRT	ORPHA:2073
HP:0004323	Abnormality of body weight	22891	ZNF365	ORPHA:2073
HP:0004323	Abnormality of body weight	7292	TNFSF4	ORPHA:2073
HP:0004323	Abnormality of body weight	3123	HLA-DRB1	ORPHA:2073
HP:0004323	Abnormality of body weight	9320	TRIP12	OMIM:617752
HP:0004323	Abnormality of body weight	1315	COPB1	OMIM:619255
HP:0004323	Abnormality of body weight	51099	ABHD5	ORPHA:98907
HP:0004323	Abnormality of body weight	51317	PHF21A	OMIM:618725
HP:0004323	Abnormality of body weight	57104	PNPLA2	ORPHA:98908
HP:0004323	Abnormality of body weight	1968	EIF2S3	ORPHA:85282
HP:0004323	Abnormality of body weight	1968	EIF2S3	OMIM:300148
HP:0004323	Abnormality of body weight	37	ACADVL	ORPHA:26793
HP:0004323	Abnormality of body weight	23102	TBC1D2B	ORPHA:397973
HP:0004323	Abnormality of body weight	375056	MIA3	OMIM:619269
HP:0004323	Abnormality of body weight	1806	DPYD	ORPHA:293948
HP:0004323	Abnormality of body weight	109	ADCY3	OMIM:617885
HP:0004323	Abnormality of body weight	6736	SRY	ORPHA:1772
HP:0004323	Abnormality of body weight	57194	ATP10A	ORPHA:411515
HP:0004323	Abnormality of body weight	6657	SOX2	ORPHA:3157
HP:0004323	Abnormality of body weight	6658	SOX3	ORPHA:3157
HP:0004323	Abnormality of body weight	5015	OTX2	ORPHA:3157
HP:0004323	Abnormality of body weight	283450	HECTD4	OMIM:620250
HP:0004323	Abnormality of body weight	81555	YIPF5	OMIM:619278
HP:0004323	Abnormality of body weight	84942	WDR73	OMIM:251300
HP:0004323	Abnormality of body weight	57176	VARS2	OMIM:615917
HP:0004323	Abnormality of body weight	9401	RECQL4	OMIM:268400
HP:0004323	Abnormality of body weight	9401	RECQL4	ORPHA:221016
HP:0004323	Abnormality of body weight	4487	MSX1	ORPHA:199302
HP:0004323	Abnormality of body weight	5818	NECTIN1	ORPHA:199302
HP:0004323	Abnormality of body weight	8626	TP63	ORPHA:199302
HP:0004323	Abnormality of body weight	3664	IRF6	ORPHA:199302
HP:0004323	Abnormality of body weight	5932	RBBP8	OMIM:606744
HP:0004323	Abnormality of body weight	2175	FANCA	OMIM:227650
HP:0004323	Abnormality of body weight	1841	DTYMK	OMIM:619847
HP:0004323	Abnormality of body weight	318	NUDT2	OMIM:619844
HP:0004323	Abnormality of body weight	10847	SRCAP	ORPHA:2044
HP:0004323	Abnormality of body weight	4868	NPHS1	OMIM:256300
HP:0004323	Abnormality of body weight	116228	COX20	OMIM:619054
HP:0004323	Abnormality of body weight	6884	TAF13	OMIM:617432
HP:0004323	Abnormality of body weight	55037	PTCD3	OMIM:619057
HP:0004323	Abnormality of body weight	1272	CNTN1	OMIM:612540
HP:0004323	Abnormality of body weight	816	CAMK2B	OMIM:617799
HP:0004323	Abnormality of body weight	90993	CREB3L1	OMIM:616229
HP:0004323	Abnormality of body weight	54675	CRLS1	OMIM:620167
HP:0004323	Abnormality of body weight	26053	AUTS2	ORPHA:352490
HP:0004323	Abnormality of body weight	26053	AUTS2	OMIM:615834
HP:0004323	Abnormality of body weight	7386	UQCRFS1	OMIM:618775
HP:0004323	Abnormality of body weight	833	CARS1	OMIM:618891
HP:0004323	Abnormality of body weight	2903	GRIN2A	ORPHA:289266
HP:0004323	Abnormality of body weight	2903	GRIN2A	OMIM:245570
HP:0004323	Abnormality of body weight	55012	PPP2R3C	OMIM:618419
HP:0004323	Abnormality of body weight	51021	MRPS16	OMIM:610498
HP:0004323	Abnormality of body weight	5447	POR	OMIM:201750
HP:0004323	Abnormality of body weight	55621	TRMT1	OMIM:618302
HP:0004323	Abnormality of body weight	4593	MUSK	OMIM:208150
HP:0004323	Abnormality of body weight	2321	FLT1	ORPHA:275555
HP:0004323	Abnormality of body weight	219736	STOX1	ORPHA:275555
HP:0004323	Abnormality of body weight	10699	CORIN	ORPHA:275555
HP:0004323	Abnormality of body weight	79753	SNIP1	OMIM:614501
HP:0004323	Abnormality of body weight	7385	UQCRC2	OMIM:615160
HP:0004323	Abnormality of body weight	1028	CDKN1C	ORPHA:397590
HP:0004323	Abnormality of body weight	641	BLM	OMIM:210900
HP:0004323	Abnormality of body weight	641	BLM	ORPHA:125
HP:0004323	Abnormality of body weight	79728	PALB2	OMIM:610832
HP:0004323	Abnormality of body weight	2683	B4GALT1	ORPHA:79332
HP:0004323	Abnormality of body weight	5286	PIK3C2A	OMIM:618440
HP:0004323	Abnormality of body weight	8218	CLTCL1	ORPHA:453510
HP:0004323	Abnormality of body weight	2961	GTF2E2	OMIM:616943
HP:0004323	Abnormality of body weight	701	BUB1B	OMIM:257300
HP:0004323	Abnormality of body weight	9896	FIG4	OMIM:216340
HP:0004323	Abnormality of body weight	6567	SLC16A2	ORPHA:59
HP:0004323	Abnormality of body weight	6138	RPL15	ORPHA:124
HP:0004323	Abnormality of body weight	6224	RPS20	ORPHA:124
HP:0004323	Abnormality of body weight	6165	RPL35A	ORPHA:124
HP:0004323	Abnormality of body weight	6132	RPL8	ORPHA:124
HP:0004323	Abnormality of body weight	6232	RPS27	ORPHA:124
HP:0004323	Abnormality of body weight	6160	RPL31	ORPHA:124
HP:0004323	Abnormality of body weight	6201	RPS7	ORPHA:124
HP:0004323	Abnormality of body weight	6155	RPL27	ORPHA:124
HP:0004323	Abnormality of body weight	6234	RPS28	ORPHA:124
HP:0004323	Abnormality of body weight	6135	RPL11	ORPHA:124
HP:0004323	Abnormality of body weight	6229	RPS24	ORPHA:124
HP:0004323	Abnormality of body weight	6204	RPS10	ORPHA:124
HP:0004323	Abnormality of body weight	2623	GATA1	ORPHA:124
HP:0004323	Abnormality of body weight	6133	RPL9	ORPHA:124
HP:0004323	Abnormality of body weight	6231	RPS26	ORPHA:124
HP:0004323	Abnormality of body weight	11224	RPL35	ORPHA:124
HP:0004323	Abnormality of body weight	6218	RPS17	ORPHA:124
HP:0004323	Abnormality of body weight	6154	RPL26	ORPHA:124
HP:0004323	Abnormality of body weight	6210	RPS15A	ORPHA:124
HP:0004323	Abnormality of body weight	90121	TSR2	ORPHA:124
HP:0004323	Abnormality of body weight	6141	RPL18	ORPHA:124
HP:0004323	Abnormality of body weight	6235	RPS29	ORPHA:124
HP:0004323	Abnormality of body weight	51816	ADA2	ORPHA:124
HP:0004323	Abnormality of body weight	5631	PRPS1	OMIM:300661
HP:0004323	Abnormality of body weight	56160	NSMCE3	OMIM:617241
HP:0004323	Abnormality of body weight	51025	PAM16	OMIM:613320
HP:0004323	Abnormality of body weight	10075	HUWE1	OMIM:309590
HP:0004323	Abnormality of body weight	4041	LRP5	ORPHA:90050
HP:0004323	Abnormality of body weight	8322	FZD4	ORPHA:90050
HP:0004323	Abnormality of body weight	579	NKX3-2	OMIM:613330
HP:0004323	Abnormality of body weight	23363	OBSL1	OMIM:612921
HP:0004323	Abnormality of body weight	7253	TSHR	ORPHA:424
HP:0004323	Abnormality of body weight	7253	TSHR	OMIM:609152
HP:0004323	Abnormality of body weight	55593	OTUD5	OMIM:301056
HP:0004323	Abnormality of body weight	1062	CENPE	OMIM:616051
HP:0004323	Abnormality of body weight	5160	PDHA1	OMIM:312170
HP:0004323	Abnormality of body weight	5160	PDHA1	ORPHA:79243
HP:0004323	Abnormality of body weight	10229	COQ7	OMIM:616733
HP:0004323	Abnormality of body weight	2710	GK	OMIM:307030
HP:0004323	Abnormality of body weight	63925	ZNF335	OMIM:615095
HP:0004323	Abnormality of body weight	50619	DEF6	OMIM:619573
HP:0004323	Abnormality of body weight	23511	NUP188	OMIM:618804
HP:0004323	Abnormality of body weight	1277	COL1A1	OMIM:166210
HP:0004323	Abnormality of body weight	1278	COL1A2	OMIM:166210
HP:0004323	Abnormality of body weight	9820	CUL7	OMIM:273750
HP:0004323	Abnormality of body weight	9361	LONP1	ORPHA:79243
HP:0004323	Abnormality of body weight	22827	PUF60	ORPHA:508488
HP:0004323	Abnormality of body weight	22827	PUF60	OMIM:615583
HP:0004323	Abnormality of body weight	2178	FANCE	OMIM:600901
HP:0004323	Abnormality of body weight	4905	NSF	OMIM:619340
HP:0004323	Abnormality of body weight	10046	MAMLD1	ORPHA:95706
HP:0004323	Abnormality of body weight	367	AR	ORPHA:95706
HP:0004323	Abnormality of body weight	3835	KIF22	ORPHA:93360
HP:0004323	Abnormality of body weight	29927	SEC61A1	OMIM:617056
HP:0004323	Abnormality of body weight	92002	CCNQ	OMIM:300707
HP:0004323	Abnormality of body weight	4796	TONSL	ORPHA:93357
HP:0004323	Abnormality of body weight	1727	CYB5R3	ORPHA:621
HP:0004323	Abnormality of body weight	6697	SPR	ORPHA:70594
HP:0004323	Abnormality of body weight	1836	SLC26A2	OMIM:222600
HP:0004323	Abnormality of body weight	60558	GUF1	OMIM:617065
HP:0004323	Abnormality of body weight	9918	NCAPD2	OMIM:617983
HP:0004323	Abnormality of body weight	57477	SHROOM4	ORPHA:85288
HP:0004323	Abnormality of body weight	10293	TRAIP	OMIM:616777
HP:0004323	Abnormality of body weight	9702	CEP57	OMIM:614114
HP:0004323	Abnormality of body weight	202018	TAPT1	OMIM:616897
HP:0004323	Abnormality of body weight	23397	NCAPH	OMIM:617985
HP:0004323	Abnormality of body weight	23310	NCAPD3	OMIM:617984
HP:0004323	Abnormality of body weight	10436	EMG1	OMIM:211180
HP:0004323	Abnormality of body weight	2177	FANCD2	OMIM:227646
HP:0004323	Abnormality of body weight	5805	PTS	OMIM:261640
HP:0004323	Abnormality of body weight	2176	FANCC	OMIM:227645
HP:0004323	Abnormality of body weight	29928	TIMM22	OMIM:618851
HP:0004323	Abnormality of body weight	146059	CDAN1	OMIM:224120
HP:0004323	Abnormality of body weight	10736	SIX2	ORPHA:488437
HP:0004323	Abnormality of body weight	4713	NDUFB7	OMIM:620135
HP:0004323	Abnormality of body weight	64682	ANAPC1	ORPHA:221008
HP:0004323	Abnormality of body weight	2737	GLI3	ORPHA:672
HP:0004323	Abnormality of body weight	129563	DIS3L2	OMIM:267000
HP:0004323	Abnormality of body weight	4953	ODC1	OMIM:619075
HP:0004323	Abnormality of body weight	4953	ODC1	ORPHA:544488
HP:0004323	Abnormality of body weight	8036	SHOC2	OMIM:607721
HP:0004323	Abnormality of body weight	8925	HERC1	OMIM:617011
HP:0004323	Abnormality of body weight	8925	HERC1	ORPHA:457359
HP:0004323	Abnormality of body weight	9158	FIBP	ORPHA:500095
HP:0004323	Abnormality of body weight	9158	FIBP	OMIM:617107
HP:0004323	Abnormality of body weight	6016	RIT1	OMIM:615355
HP:0004323	Abnormality of body weight	84282	RNF135	ORPHA:137634
HP:0004323	Abnormality of body weight	5894	RAF1	OMIM:611553
HP:0004323	Abnormality of body weight	54499	TMCO1	OMIM:213980
HP:0004323	Abnormality of body weight	274	BIN1	ORPHA:169189
HP:0004323	Abnormality of body weight	64419	MTMR14	ORPHA:169189
HP:0004323	Abnormality of body weight	4618	MYF6	ORPHA:169189
HP:0004323	Abnormality of body weight	1785	DNM2	ORPHA:169189
HP:0004323	Abnormality of body weight	6261	RYR1	ORPHA:169189
HP:0004323	Abnormality of body weight	10060	ABCC9	OMIM:239850
HP:0004323	Abnormality of body weight	23405	DICER1	OMIM:618272
HP:0004323	Abnormality of body weight	58508	KMT2C	ORPHA:261652
HP:0004323	Abnormality of body weight	288	ANK3	ORPHA:356996
HP:0004323	Abnormality of body weight	23556	PIGN	OMIM:614080
HP:0004323	Abnormality of body weight	9487	PIGL	OMIM:280000
HP:0004323	Abnormality of body weight	5727	PTCH1	ORPHA:77301
HP:0004323	Abnormality of body weight	139886	SPIN4	OMIM:301114
HP:0004323	Abnormality of body weight	1910	EDNRB	OMIM:600501
HP:0004323	Abnormality of body weight	5277	PIGA	OMIM:300868
HP:0004323	Abnormality of body weight	7543	ZFX	OMIM:301118
HP:0004323	Abnormality of body weight	3340	NDST1	OMIM:616116
HP:0004323	Abnormality of body weight	2475	MTOR	ORPHA:457485
HP:0004323	Abnormality of body weight	2475	MTOR	OMIM:616638
HP:0004323	Abnormality of body weight	7351	UCP2	ORPHA:276556
HP:0004323	Abnormality of body weight	6654	SOS1	OMIM:610733
HP:0004323	Abnormality of body weight	55697	VAC14	ORPHA:3472
HP:0004323	Abnormality of body weight	285175	UNC80	ORPHA:371364
HP:0004323	Abnormality of body weight	5191	PEX7	OMIM:215100
HP:0004323	Abnormality of body weight	90268	OTULIN	OMIM:617099
HP:0004323	Abnormality of body weight	7355	SLC35A2	ORPHA:356961
HP:0004323	Abnormality of body weight	5880	RAC2	OMIM:618987
HP:0004323	Abnormality of body weight	4056	LTC4S	OMIM:614037
HP:0004323	Abnormality of body weight	56992	KIF15	ORPHA:261323
HP:0004323	Abnormality of body weight	1439	CSF2RB	ORPHA:264675
HP:0004323	Abnormality of body weight	7084	TK2	ORPHA:254875
HP:0004323	Abnormality of body weight	26007	TKFC	OMIM:618805
HP:0004323	Abnormality of body weight	5605	MAP2K2	ORPHA:1340
HP:0004323	Abnormality of body weight	3431	SP110	ORPHA:79124
HP:0004323	Abnormality of body weight	83480	PUS3	ORPHA:488627
HP:0004323	Abnormality of body weight	9377	COX5A	OMIM:619064
HP:0004323	Abnormality of body weight	29968	PSAT1	ORPHA:284417
HP:0004323	Abnormality of body weight	4697	NDUFA4	OMIM:619065
HP:0004323	Abnormality of body weight	23495	TNFRSF13B	ORPHA:1572
HP:0004323	Abnormality of body weight	4790	NFKB1	ORPHA:1572
HP:0004323	Abnormality of body weight	115650	TNFRSF13C	ORPHA:1572
HP:0004323	Abnormality of body weight	8742	TNFSF12	ORPHA:1572
HP:0004323	Abnormality of body weight	930	CD19	ORPHA:1572
HP:0004323	Abnormality of body weight	29851	ICOS	ORPHA:1572
HP:0004323	Abnormality of body weight	931	MS4A1	ORPHA:1572
HP:0004323	Abnormality of body weight	975	CD81	ORPHA:1572
HP:0004323	Abnormality of body weight	10043	TOM1	OMIM:619510
HP:0004323	Abnormality of body weight	3043	HBB	ORPHA:231214
HP:0004323	Abnormality of body weight	3043	HBB	ORPHA:231226
HP:0004323	Abnormality of body weight	368	ABCC6	ORPHA:51608
HP:0004323	Abnormality of body weight	3032	HADHB	ORPHA:746
HP:0004323	Abnormality of body weight	8405	SPOP	OMIM:618829
HP:0004323	Abnormality of body weight	2222	FDFT1	OMIM:618156
HP:0004323	Abnormality of body weight	83737	ITCH	OMIM:613385
HP:0004323	Abnormality of body weight	83737	ITCH	ORPHA:228426
HP:0004323	Abnormality of body weight	3557	IL1RN	OMIM:612852
HP:0004323	Abnormality of body weight	10463	SLC30A9	OMIM:617595
HP:0004323	Abnormality of body weight	64116	SLC39A8	ORPHA:468699
HP:0004323	Abnormality of body weight	84842	HPDL	OMIM:619026
HP:0004323	Abnormality of body weight	7043	TGFB3	OMIM:615582
HP:0004323	Abnormality of body weight	4654	MYOD1	OMIM:618975
HP:0004323	Abnormality of body weight	78987	CRELD1	OMIM:620771
HP:0004323	Abnormality of body weight	5781	PTPN11	OMIM:163950
HP:0004323	Abnormality of body weight	50814	NSDHL	OMIM:300831
HP:0004323	Abnormality of body weight	50814	NSDHL	ORPHA:251383
HP:0004323	Abnormality of body weight	2892	GRIA3	OMIM:300699
HP:0004323	Abnormality of body weight	2892	GRIA3	ORPHA:364028
HP:0004323	Abnormality of body weight	65109	UPF3B	OMIM:300676
HP:0004323	Abnormality of body weight	84665	MYPN	ORPHA:171439
HP:0004323	Abnormality of body weight	390594	KBTBD13	ORPHA:171439
HP:0004323	Abnormality of body weight	4703	NEB	ORPHA:171439
HP:0004323	Abnormality of body weight	4703	NEB	OMIM:256030
HP:0004323	Abnormality of body weight	4703	NEB	ORPHA:399103
HP:0004323	Abnormality of body weight	10324	KLHL41	ORPHA:171439
HP:0004323	Abnormality of body weight	1890	TYMP	OMIM:603041
HP:0004323	Abnormality of body weight	7138	TNNT1	OMIM:620389
HP:0004323	Abnormality of body weight	7486	WRN	ORPHA:902
HP:0004323	Abnormality of body weight	23152	CIC	OMIM:617600
HP:0004323	Abnormality of body weight	6301	SARS1	OMIM:617709
HP:0004323	Abnormality of body weight	10382	TUBB4A	OMIM:128101
HP:0004323	Abnormality of body weight	2201	FBN2	ORPHA:115
HP:0004323	Abnormality of body weight	3106	HLA-B	ORPHA:397
HP:0004323	Abnormality of body weight	3106	HLA-B	ORPHA:117
HP:0004323	Abnormality of body weight	3106	HLA-B	ORPHA:29207
HP:0004323	Abnormality of body weight	3106	HLA-B	ORPHA:36426
HP:0004323	Abnormality of body weight	3106	HLA-B	ORPHA:3287
HP:0004323	Abnormality of body weight	8974	P4HA2	ORPHA:397
HP:0004323	Abnormality of body weight	3064	HTT	ORPHA:399
HP:0004323	Abnormality of body weight	3064	HTT	ORPHA:248111
HP:0004323	Abnormality of body weight	6515	SLC2A3	ORPHA:399
HP:0004323	Abnormality of body weight	54790	TET2	ORPHA:98850
HP:0004323	Abnormality of body weight	54790	TET2	ORPHA:98849
HP:0004323	Abnormality of body weight	861	RUNX1	ORPHA:98850
HP:0004323	Abnormality of body weight	6427	SRSF2	ORPHA:98850
HP:0004323	Abnormality of body weight	6427	SRSF2	ORPHA:98849
HP:0004323	Abnormality of body weight	4352	MPL	ORPHA:71493
HP:0004323	Abnormality of body weight	7066	THPO	ORPHA:71493
HP:0004323	Abnormality of body weight	3717	JAK2	ORPHA:71493
HP:0004323	Abnormality of body weight	3717	JAK2	ORPHA:729
HP:0004323	Abnormality of body weight	3717	JAK2	ORPHA:131
HP:0004323	Abnormality of body weight	6622	SNCA	OMIM:605543
HP:0004323	Abnormality of body weight	6622	SNCA	ORPHA:411602
HP:0004323	Abnormality of body weight	3815	KIT	ORPHA:98849
HP:0004323	Abnormality of body weight	5314	PKHD1	ORPHA:53035
HP:0004323	Abnormality of body weight	4292	MLH1	ORPHA:144
HP:0004323	Abnormality of body weight	5395	PMS2	ORPHA:144
HP:0004323	Abnormality of body weight	7048	TGFBR2	ORPHA:144
HP:0004323	Abnormality of body weight	2956	MSH6	ORPHA:144
HP:0004323	Abnormality of body weight	5378	PMS1	ORPHA:144
HP:0004323	Abnormality of body weight	4436	MSH2	ORPHA:144
HP:0004323	Abnormality of body weight	4893	NRAS	ORPHA:389
HP:0004323	Abnormality of body weight	215	ABCD1	ORPHA:388
HP:0004323	Abnormality of body weight	2668	GDNF	ORPHA:388
HP:0004323	Abnormality of body weight	1889	ECE1	ORPHA:388
HP:0004323	Abnormality of body weight	6720	SREBF1	ORPHA:388
HP:0004323	Abnormality of body weight	1908	EDN3	ORPHA:388
HP:0004323	Abnormality of body weight	223117	SEMA3D	ORPHA:388
HP:0004323	Abnormality of body weight	538	ATP7A	ORPHA:388
HP:0004323	Abnormality of body weight	10512	SEMA3C	ORPHA:388
HP:0004323	Abnormality of body weight	2064	ERBB2	ORPHA:388
HP:0004323	Abnormality of body weight	2065	ERBB3	ORPHA:388
HP:0004323	Abnormality of body weight	4902	NRTN	ORPHA:388
HP:0004323	Abnormality of body weight	1639	DCTN1	ORPHA:178509
HP:0004323	Abnormality of body weight	1639	DCTN1	ORPHA:803
HP:0004323	Abnormality of body weight	1639	DCTN1	OMIM:168605
HP:0004323	Abnormality of body weight	79577	CDC73	ORPHA:143
HP:0004323	Abnormality of body weight	2130	EWSR1	ORPHA:83469
HP:0004323	Abnormality of body weight	64218	SEMA4A	ORPHA:440437
HP:0004323	Abnormality of body weight	4595	MUTYH	ORPHA:440437
HP:0004323	Abnormality of body weight	5424	POLD1	ORPHA:440437
HP:0004323	Abnormality of body weight	11200	CHEK2	ORPHA:440437
HP:0004323	Abnormality of body weight	11200	CHEK2	ORPHA:668
HP:0004323	Abnormality of body weight	9244	CRLF1	ORPHA:930
HP:0004323	Abnormality of body weight	4842	NOS1	ORPHA:930
HP:0004323	Abnormality of body weight	3980	LIG3	ORPHA:298
HP:0004323	Abnormality of body weight	6772	STAT1	OMIM:614162
HP:0004323	Abnormality of body weight	2859	GPR35	ORPHA:171
HP:0004323	Abnormality of body weight	10507	SEMA4D	ORPHA:171
HP:0004323	Abnormality of body weight	4485	MST1	ORPHA:171
HP:0004323	Abnormality of body weight	2034	EPAS1	ORPHA:276621
HP:0004323	Abnormality of body weight	29967	LRP12	OMIM:164310
HP:0004323	Abnormality of body weight	29967	LRP12	ORPHA:98897
HP:0004323	Abnormality of body weight	10459	MAD2L2	ORPHA:84
HP:0004323	Abnormality of body weight	7516	XRCC2	ORPHA:84
HP:0004323	Abnormality of body weight	29089	UBE2T	ORPHA:84
HP:0004323	Abnormality of body weight	55120	FANCL	ORPHA:84
HP:0004323	Abnormality of body weight	2187	FANCB	ORPHA:84
HP:0004323	Abnormality of body weight	2189	FANCG	ORPHA:84
HP:0004323	Abnormality of body weight	5888	RAD51	ORPHA:84
HP:0004323	Abnormality of body weight	5889	RAD51C	ORPHA:84
HP:0004323	Abnormality of body weight	55159	RFWD3	ORPHA:84
HP:0004323	Abnormality of body weight	83990	BRIP1	ORPHA:84
HP:0004323	Abnormality of body weight	57697	FANCM	ORPHA:84
HP:0004323	Abnormality of body weight	84464	SLX4	ORPHA:84
HP:0004323	Abnormality of body weight	5621	PRNP	OMIM:600072
HP:0004323	Abnormality of body weight	5621	PRNP	ORPHA:466
HP:0004323	Abnormality of body weight	5621	PRNP	ORPHA:157941
HP:0004323	Abnormality of body weight	5621	PRNP	OMIM:137440
HP:0004323	Abnormality of body weight	22	ABCB7	OMIM:301310
HP:0004323	Abnormality of body weight	64127	NOD2	OMIM:617321
HP:0004323	Abnormality of body weight	64127	NOD2	OMIM:266600
HP:0004323	Abnormality of body weight	23230	VPS13A	ORPHA:2388
HP:0004323	Abnormality of body weight	57338	JPH3	ORPHA:98934
HP:0004323	Abnormality of body weight	57338	JPH3	OMIM:606438
HP:0004323	Abnormality of body weight	2313	FLI1	ORPHA:370348
HP:0004323	Abnormality of body weight	595	CCND1	ORPHA:52416
HP:0004323	Abnormality of body weight	595	CCND1	ORPHA:29073
HP:0004323	Abnormality of body weight	3492	IGH	ORPHA:52416
HP:0004323	Abnormality of body weight	3492	IGH	ORPHA:52417
HP:0004323	Abnormality of body weight	3492	IGH	ORPHA:545
HP:0004323	Abnormality of body weight	330	BIRC3	ORPHA:52417
HP:0004323	Abnormality of body weight	8915	BCL10	ORPHA:52417
HP:0004323	Abnormality of body weight	1743	DLST	ORPHA:29072
HP:0004323	Abnormality of body weight	6389	SDHA	ORPHA:29072
HP:0004323	Abnormality of body weight	6389	SDHA	ORPHA:3208
HP:0004323	Abnormality of body weight	8402	SLC25A11	ORPHA:29072
HP:0004323	Abnormality of body weight	54949	SDHAF2	ORPHA:29072
HP:0004323	Abnormality of body weight	55654	TMEM127	ORPHA:29072
HP:0004323	Abnormality of body weight	4763	NF1	ORPHA:29072
HP:0004323	Abnormality of body weight	4149	MAX	ORPHA:29072
HP:0004323	Abnormality of body weight	1493	CTLA4	ORPHA:900
HP:0004323	Abnormality of body weight	1493	CTLA4	ORPHA:2584
HP:0004323	Abnormality of body weight	1493	CTLA4	ORPHA:536
HP:0004323	Abnormality of body weight	3115	HLA-DPB1	ORPHA:900
HP:0004323	Abnormality of body weight	3115	HLA-DPB1	ORPHA:133
HP:0004323	Abnormality of body weight	5657	PRTN3	ORPHA:900
HP:0004323	Abnormality of body weight	3113	HLA-DPA1	ORPHA:900
HP:0004323	Abnormality of body weight	7276	TTR	ORPHA:85447
HP:0004323	Abnormality of body weight	4665	NAB2	ORPHA:2126
HP:0004323	Abnormality of body weight	6778	STAT6	ORPHA:2126
HP:0004323	Abnormality of body weight	1962	EHHADH	ORPHA:3337
HP:0004323	Abnormality of body weight	137682	NDUFAF6	ORPHA:3337
HP:0004323	Abnormality of body weight	38	ACAT1	ORPHA:134
HP:0004323	Abnormality of body weight	811	CALR	ORPHA:131
HP:0004323	Abnormality of body weight	2153	F5	ORPHA:131
HP:0004323	Abnormality of body weight	11330	CTRC	ORPHA:103918
HP:0004323	Abnormality of body weight	6690	SPINK1	ORPHA:103918
HP:0004323	Abnormality of body weight	84868	HAVCR2	ORPHA:86884
HP:0004323	Abnormality of body weight	10661	KLF1	OMIM:613673
HP:0004323	Abnormality of body weight	644096	SDHAF1	ORPHA:3208
HP:0004323	Abnormality of body weight	654	BMP6	ORPHA:465508
HP:0004323	Abnormality of body weight	3586	IL10	OMIM:180300
HP:0004323	Abnormality of body weight	3586	IL10	ORPHA:117
HP:0004323	Abnormality of body weight	3586	IL10	ORPHA:536
HP:0004323	Abnormality of body weight	6583	SLC22A4	OMIM:180300
HP:0004323	Abnormality of body weight	51744	CD244	OMIM:180300
HP:0004323	Abnormality of body weight	4795	NFKBIL1	OMIM:180300
HP:0004323	Abnormality of body weight	25978	CHMP2B	ORPHA:803
HP:0004323	Abnormality of body weight	3178	HNRNPA1	ORPHA:803
HP:0004323	Abnormality of body weight	8148	TAF15	ORPHA:803
HP:0004323	Abnormality of body weight	5445	PON2	ORPHA:803
HP:0004323	Abnormality of body weight	9217	VAPB	ORPHA:803
HP:0004323	Abnormality of body weight	8878	SQSTM1	ORPHA:803
HP:0004323	Abnormality of body weight	5630	PRPH	ORPHA:803
HP:0004323	Abnormality of body weight	29110	TBK1	ORPHA:803
HP:0004323	Abnormality of body weight	55830	GLT8D1	ORPHA:803
HP:0004323	Abnormality of body weight	755	CFAP410	ORPHA:803
HP:0004323	Abnormality of body weight	10891	PPARGC1A	ORPHA:803
HP:0004323	Abnormality of body weight	6647	SOD1	ORPHA:803
HP:0004323	Abnormality of body weight	10133	OPTN	ORPHA:803
HP:0004323	Abnormality of body weight	5444	PON1	ORPHA:803
HP:0004323	Abnormality of body weight	5446	PON3	ORPHA:803
HP:0004323	Abnormality of body weight	4744	NEFH	ORPHA:803
HP:0004323	Abnormality of body weight	5216	PFN1	ORPHA:803
HP:0004323	Abnormality of body weight	9782	MATR3	ORPHA:803
HP:0004323	Abnormality of body weight	54209	TREM2	ORPHA:803
HP:0004323	Abnormality of body weight	7415	VCP	ORPHA:803
HP:0004323	Abnormality of body weight	283	ANG	ORPHA:803
HP:0004323	Abnormality of body weight	23435	TARDBP	ORPHA:803
HP:0004323	Abnormality of body weight	29978	UBQLN2	ORPHA:803
HP:0004323	Abnormality of body weight	2733	GLE1	ORPHA:803
HP:0004323	Abnormality of body weight	2521	FUS	ORPHA:803
HP:0004323	Abnormality of body weight	4750	NEK1	ORPHA:803
HP:0004323	Abnormality of body weight	6311	ATXN2	ORPHA:803
HP:0004323	Abnormality of body weight	1610	DAO	ORPHA:803
HP:0004323	Abnormality of body weight	2066	ERBB4	ORPHA:803
HP:0004323	Abnormality of body weight	311	ANXA11	ORPHA:803
HP:0004323	Abnormality of body weight	23025	UNC13A	ORPHA:803
HP:0004323	Abnormality of body weight	899	CCNF	ORPHA:803
HP:0004323	Abnormality of body weight	400916	CHCHD10	ORPHA:803
HP:0004323	Abnormality of body weight	2000	ELF4	OMIM:301074
HP:0004323	Abnormality of body weight	10568	SLC34A2	ORPHA:60025
HP:0004323	Abnormality of body weight	80025	PANK2	ORPHA:216866
HP:0004323	Abnormality of body weight	567	B2M	OMIM:620659
HP:0004323	Abnormality of body weight	940	CD28	ORPHA:2584
HP:0004323	Abnormality of body weight	7133	TNFRSF1B	ORPHA:2584
HP:0004323	Abnormality of body weight	165918	RNF168	ORPHA:420741
HP:0004323	Abnormality of body weight	149233	IL23R	ORPHA:117
HP:0004323	Abnormality of body weight	4210	MEFV	ORPHA:117
HP:0004323	Abnormality of body weight	1230	CCR1	ORPHA:117
HP:0004323	Abnormality of body weight	355	FAS	ORPHA:117
HP:0004323	Abnormality of body weight	3592	IL12A	ORPHA:117
HP:0004323	Abnormality of body weight	101928376	IL12A-AS1	ORPHA:117
HP:0004323	Abnormality of body weight	7099	TLR4	ORPHA:117
HP:0004323	Abnormality of body weight	3459	IFNGR1	ORPHA:117
HP:0004323	Abnormality of body weight	3459	IFNGR1	OMIM:209950
HP:0004323	Abnormality of body weight	720	C4A	ORPHA:117
HP:0004323	Abnormality of body weight	720	C4A	ORPHA:536
HP:0004323	Abnormality of body weight	337867	UBAC2	ORPHA:117
HP:0004323	Abnormality of body weight	51752	ERAP1	ORPHA:117
HP:0004323	Abnormality of body weight	8302	KLRC4	ORPHA:117
HP:0004323	Abnormality of body weight	3848	KRT1	ORPHA:312
HP:0004323	Abnormality of body weight	3155	HMGCL	ORPHA:20
HP:0004323	Abnormality of body weight	596	BCL2	ORPHA:545
HP:0004323	Abnormality of body weight	604	BCL6	ORPHA:545
HP:0004323	Abnormality of body weight	5925	RB1	ORPHA:668
HP:0004323	Abnormality of body weight	5978	REST	ORPHA:654
HP:0004323	Abnormality of body weight	9319	TRIP13	ORPHA:654
HP:0004323	Abnormality of body weight	10155	TRIM28	ORPHA:654
HP:0004323	Abnormality of body weight	11281	POU6F2	ORPHA:654
HP:0004323	Abnormality of body weight	2719	GPC3	ORPHA:654
HP:0004323	Abnormality of body weight	2215	FCGR3B	ORPHA:536
HP:0004323	Abnormality of body weight	3684	ITGAM	ORPHA:536
HP:0004323	Abnormality of body weight	221895	JAZF1	ORPHA:536
HP:0004323	Abnormality of body weight	11277	TREX1	ORPHA:536
HP:0004323	Abnormality of body weight	55024	BANK1	ORPHA:536
HP:0004323	Abnormality of body weight	3500	IGHG1	ORPHA:536
HP:0004323	Abnormality of body weight	3654	IRAK1	ORPHA:536
HP:0004323	Abnormality of body weight	1380	CR2	ORPHA:536
HP:0004323	Abnormality of body weight	5133	PDCD1	ORPHA:536
HP:0004323	Abnormality of body weight	2113	ETS1	ORPHA:536
HP:0004323	Abnormality of body weight	2213	FCGR2B	ORPHA:536
HP:0004323	Abnormality of body weight	10318	TNIP1	ORPHA:536
HP:0004323	Abnormality of body weight	7332	UBE2L3	ORPHA:536
HP:0004323	Abnormality of body weight	79932	KIAA0319L	ORPHA:536
HP:0004323	Abnormality of body weight	3663	IRF5	ORPHA:536
HP:0004323	Abnormality of body weight	721	C4B	ORPHA:536
HP:0004323	Abnormality of body weight	1773	DNASE1	ORPHA:536
HP:0004323	Abnormality of body weight	51284	TLR7	ORPHA:536
HP:0004323	Abnormality of body weight	6696	SPP1	ORPHA:536
HP:0004323	Abnormality of body weight	54899	PXK	ORPHA:536
HP:0004323	Abnormality of body weight	7128	TNFAIP3	ORPHA:536
HP:0004323	Abnormality of body weight	10320	IKZF1	ORPHA:36426
HP:0004323	Abnormality of body weight	23317	DNAJC13	ORPHA:411602
HP:0004323	Abnormality of body weight	1981	EIF4G1	ORPHA:411602
HP:0004323	Abnormality of body weight	55737	VPS35	ORPHA:411602
HP:0004323	Abnormality of body weight	120892	LRRK2	ORPHA:411602
HP:0004323	Abnormality of body weight	26058	GIGYF2	ORPHA:411602
HP:0004323	Abnormality of body weight	3141	HLCS	ORPHA:79242
HP:0004323	Abnormality of body weight	3569	IL6	OMIM:266600
HP:0004323	Abnormality of body weight	285282	RABL3	ORPHA:1333
HP:0004323	Abnormality of body weight	23022	PALLD	ORPHA:1333
HP:0004323	Abnormality of body weight	2707	GJB3	ORPHA:317
HP:0004323	Abnormality of body weight	2531	KDSR	ORPHA:317
HP:0004323	Abnormality of body weight	127534	GJB4	ORPHA:317
HP:0004323	Abnormality of body weight	56244	BTNL2	ORPHA:797
HP:0004323	Abnormality of body weight	353116	RILPL1	ORPHA:98897
HP:0004323	Abnormality of body weight	10755	GIPC1	ORPHA:98897
HP:0004323	Abnormality of body weight	100996717	NOTCH2NLC	ORPHA:98897
HP:0004323	Abnormality of body weight	29926	GMPPA	ORPHA:869
HP:0004323	Abnormality of body weight	60684	TRAPPC11	ORPHA:869
HP:0004323	Abnormality of body weight	8086	AAAS	ORPHA:869
HP:0004323	Abnormality of body weight	10269	ZMPSTE24	ORPHA:740
HP:0004323	Abnormality of body weight	6340	SCNN1G	ORPHA:171876
HP:0004323	Abnormality of body weight	6338	SCNN1B	ORPHA:171876
HP:0004323	Abnormality of body weight	1027	CDKN1B	ORPHA:652
HP:0004323	Abnormality of body weight	1026	CDKN1A	ORPHA:652
HP:0004323	Abnormality of body weight	1030	CDKN2B	ORPHA:652
HP:0004323	Abnormality of body weight	1031	CDKN2C	ORPHA:652
HP:0004323	Abnormality of body weight	551	AVP	ORPHA:30925
HP:0004323	Abnormality of body weight	79651	RHBDF2	ORPHA:2198
HP:0004323	Abnormality of body weight	2624	GATA2	ORPHA:228423
HP:0004323	Abnormality of body weight	3593	IL12B	ORPHA:3287
HP:0004323	Abnormality of body weight	6945	MLX	ORPHA:3287
HP:0004323	Abnormality of body weight	6850	SYK	OMIM:619381
HP:0004323	Abnormality of body weight	5371	PML	ORPHA:520
HP:0004323	Abnormality of body weight	5914	RARA	ORPHA:520
HP:0004323	Abnormality of body weight	359948	IRF2BP2	ORPHA:520
HP:0004323	Abnormality of body weight	81608	FIP1L1	ORPHA:520
HP:0004323	Abnormality of body weight	4869	NPM1	ORPHA:520
HP:0004323	Abnormality of body weight	64859	NABP1	ORPHA:520
HP:0004323	Abnormality of body weight	4926	NUMA1	ORPHA:520
HP:0004323	Abnormality of body weight	7704	ZBTB16	ORPHA:520
HP:0004323	Abnormality of body weight	4613	MYCN	ORPHA:635
HP:0004323	Abnormality of body weight	238	ALK	ORPHA:635
HP:0004323	Abnormality of body weight	389421	LIN28B	ORPHA:635
HP:0004323	Abnormality of body weight	4004	LMO1	ORPHA:635
HP:0004323	Abnormality of body weight	26137	ZBTB20	OMIM:259050
HP:0004323	Abnormality of body weight	23187	PHLDB1	OMIM:620639
HP:0004323	Abnormality of body weight	56623	INPP5E	OMIM:610156
HP:0004323	Abnormality of body weight	56623	INPP5E	ORPHA:75858
HP:0004323	Abnormality of body weight	55599	RNPC3	OMIM:618160
HP:0004323	Abnormality of body weight	7518	XRCC4	OMIM:616541
HP:0004323	Abnormality of body weight	3483	IGFALS	ORPHA:140941
HP:0004323	Abnormality of body weight	5116	PCNT	ORPHA:2637
HP:0004323	Abnormality of body weight	5116	PCNT	OMIM:210720
HP:0004323	Abnormality of body weight	9149	DYRK1B	OMIM:615812
HP:0004323	Abnormality of body weight	64131	XYLT1	OMIM:615777
HP:0004323	Abnormality of body weight	64131	XYLT1	ORPHA:370930
HP:0004323	Abnormality of body weight	5718	PSMD12	ORPHA:529962
HP:0004323	Abnormality of body weight	2186	BPTF	ORPHA:529962
HP:0004323	Abnormality of body weight	2690	GHR	ORPHA:633
HP:0004323	Abnormality of body weight	26012	NSMF	ORPHA:432
HP:0004323	Abnormality of body weight	2796	GNRH1	ORPHA:432
HP:0004323	Abnormality of body weight	2798	GNRHR	ORPHA:432
HP:0004323	Abnormality of body weight	84634	KISS1R	ORPHA:432
HP:0004323	Abnormality of body weight	6866	TAC3	ORPHA:432
HP:0004323	Abnormality of body weight	3814	KISS1	ORPHA:432
HP:0004323	Abnormality of body weight	2100	ESR2	OMIM:618187
HP:0004323	Abnormality of body weight	2693	GHSR	ORPHA:314811
HP:0004323	Abnormality of body weight	84196	USP48	ORPHA:96253
HP:0004323	Abnormality of body weight	7157	TP53	ORPHA:96253
HP:0004323	Abnormality of body weight	7157	TP53	ORPHA:1501
HP:0004323	Abnormality of body weight	9101	USP8	ORPHA:96253
HP:0004323	Abnormality of body weight	64072	CDH23	ORPHA:96253
HP:0004323	Abnormality of body weight	2908	NR3C1	ORPHA:96253
HP:0004323	Abnormality of body weight	673	BRAF	ORPHA:96253
HP:0004323	Abnormality of body weight	546	ATRX	ORPHA:96253
HP:0004323	Abnormality of body weight	64324	NSD1	OMIM:117550
HP:0004323	Abnormality of body weight	10743	RAI1	OMIM:182290
HP:0004323	Abnormality of body weight	5566	PRKACA	OMIM:615830
HP:0004323	Abnormality of body weight	54551	MAGEL2	ORPHA:398069
HP:0004323	Abnormality of body weight	540	ATP7B	ORPHA:905
HP:0004323	Abnormality of body weight	5257	PHKB	ORPHA:79240
HP:0004323	Abnormality of body weight	79798	ARMC5	OMIM:615954
HP:0004323	Abnormality of body weight	79798	ARMC5	ORPHA:189427
HP:0004323	Abnormality of body weight	7068	THRB	OMIM:274300
HP:0004323	Abnormality of body weight	4221	MEN1	ORPHA:97279
HP:0004323	Abnormality of body weight	7528	YY1	ORPHA:97279
HP:0004323	Abnormality of body weight	84133	ZNRF3	ORPHA:1501
HP:0004323	Abnormality of body weight	5573	PRKAR1A	ORPHA:1501
HP:0004323	Abnormality of body weight	5573	PRKAR1A	ORPHA:1359
HP:0004323	Abnormality of body weight	1499	CTNNB1	ORPHA:1501
HP:0004323	Abnormality of body weight	1029	CDKN2A	ORPHA:1501
HP:0004323	Abnormality of body weight	7015	TERT	ORPHA:1501
HP:0004323	Abnormality of body weight	7319	UBE2A	OMIM:300860
HP:0004323	Abnormality of body weight	3172	HNF4A	ORPHA:263455
HP:0004323	Abnormality of body weight	55023	PHIP	ORPHA:589905
HP:0004323	Abnormality of body weight	5256	PHKA2	ORPHA:264580
HP:0004323	Abnormality of body weight	5261	PHKG2	ORPHA:264580
HP:0004323	Abnormality of body weight	7067	THRA	OMIM:614450
HP:0004323	Abnormality of body weight	23028	KDM1A	ORPHA:189427
HP:0004323	Abnormality of body weight	2778	GNAS	ORPHA:189427
HP:0004323	Abnormality of body weight	3075	CFH	ORPHA:244242
HP:0004323	Abnormality of body weight	3426	CFI	ORPHA:244242
HP:0004323	Abnormality of body weight	4179	CD46	ORPHA:244242
HP:0004323	Abnormality of body weight	101101692	HELLPAR	ORPHA:244242
HP:0004323	Abnormality of body weight	50940	PDE11A	ORPHA:1359
HP:0004323	Abnormality of body weight	64132	XYLT2	OMIM:605822
HP:0004323	Abnormality of body weight	51574	LARP7	OMIM:615071
HP:0004323	Abnormality of body weight	23141	ANKLE2	OMIM:616681
HP:0004323	Abnormality of body weight	10785	WDR4	OMIM:618346
HP:0004323	Abnormality of body weight	10785	WDR4	OMIM:618347
HP:0004323	Abnormality of body weight	151648	SGO1	OMIM:616201
HP:0004323	Abnormality of body weight	83932	SPRTN	OMIM:616200
HP:0004323	Abnormality of body weight	23019	CNOT1	OMIM:619033
HP:0004323	Abnormality of body weight	1763	DNA2	OMIM:620819
HP:0004323	Abnormality of body weight	54517	PUS7	OMIM:618342
HP:0004323	Abnormality of body weight	8573	CASK	OMIM:300749
HP:0004323	Abnormality of body weight	2629	GBA1	OMIM:608013
HP:0004323	Abnormality of body weight	2629	GBA1	OMIM:231000
HP:0004323	Abnormality of body weight	5324	PLAG1	OMIM:618907
HP:0004323	Abnormality of body weight	10084	PQBP1	ORPHA:93950
HP:0004323	Abnormality of body weight	10084	PQBP1	ORPHA:93945
HP:0004323	Abnormality of body weight	5745	PTH1R	OMIM:600002
HP:0004323	Abnormality of body weight	1729	DIAPH1	ORPHA:477814
HP:0004323	Abnormality of body weight	3481	IGF2	ORPHA:231140
HP:0004323	Abnormality of body weight	3481	IGF2	OMIM:616489
HP:0004323	Abnormality of body weight	283120	H19	ORPHA:231140
HP:0004323	Abnormality of body weight	10479	SLC9A6	OMIM:300243
HP:0004323	Abnormality of body weight	1294	COL7A1	ORPHA:89842
HP:0004323	Abnormality of body weight	55215	FANCI	OMIM:609053
HP:0004323	Abnormality of body weight	25914	RTTN	OMIM:614833
HP:0004323	Abnormality of body weight	50	ACO2	OMIM:614559
HP:0004323	Abnormality of body weight	4286	MITF	OMIM:617306
HP:0004323	Abnormality of body weight	2067	ERCC1	OMIM:610758
HP:0004323	Abnormality of body weight	3908	LAMA2	ORPHA:258
HP:0004323	Abnormality of body weight	55249	YY1AP1	OMIM:602531
HP:0004323	Abnormality of body weight	6197	RPS6KA3	OMIM:303600
HP:0004323	Abnormality of body weight	64135	IFIH1	OMIM:182250
HP:0004323	Abnormality of body weight	57190	SELENON	OMIM:602771
HP:0004323	Abnormality of body weight	4784	NFIX	OMIM:602535
HP:0004323	Abnormality of body weight	79868	ALG13	ORPHA:324422
HP:0004323	Abnormality of body weight	254394	MCM9	OMIM:616185
HP:0004323	Abnormality of body weight	54453	RIN2	OMIM:613075
HP:0004323	Abnormality of body weight	25885	POLR1A	OMIM:616462
HP:0004323	Abnormality of body weight	7343	UBTF	OMIM:617672
HP:0004323	Abnormality of body weight	2072	ERCC4	OMIM:278760
HP:0004323	Abnormality of body weight	83987	CCDC8	OMIM:614205
HP:0004323	Abnormality of body weight	3858	KRT10	OMIM:609165
HP:0004323	Abnormality of body weight	7703	PCGF2	OMIM:618371
HP:0004323	Abnormality of body weight	3479	IGF1	OMIM:608747
HP:0004323	Abnormality of body weight	1327	COX4I1	OMIM:619060
HP:0004323	Abnormality of body weight	1760	DMPK	ORPHA:589821
HP:0004323	Abnormality of body weight	271	AMPD2	ORPHA:401805
HP:0004323	Abnormality of body weight	372	ARCN1	OMIM:617164
HP:0004323	Abnormality of body weight	7156	TOP3A	OMIM:618097
HP:0004323	Abnormality of body weight	4174	MCM5	OMIM:617564
HP:0004323	Abnormality of body weight	7403	KDM6A	OMIM:300867
HP:0004323	Abnormality of body weight	649	BMP1	OMIM:614856
HP:0004323	Abnormality of body weight	6304	SATB1	OMIM:619229
HP:0004323	Abnormality of body weight	11193	WBP4	OMIM:620852
HP:0004323	Abnormality of body weight	9419	CRIPT	OMIM:615789
HP:0004323	Abnormality of body weight	4000	LMNA	ORPHA:79474
HP:0004323	Abnormality of body weight	55768	NGLY1	OMIM:615273
HP:0004323	Abnormality of body weight	339983	NAT8L	OMIM:614063
HP:0004323	Abnormality of body weight	54809	SAMD9	OMIM:617053
HP:0004323	Abnormality of body weight	57003	CCDC47	OMIM:618268
HP:0004323	Abnormality of body weight	29081	METTL5	OMIM:618665
HP:0004323	Abnormality of body weight	29895	MYL11	OMIM:619110
HP:0004323	Abnormality of body weight	55773	TBC1D23	OMIM:617695
HP:0004323	Abnormality of body weight	8558	CDK10	OMIM:617694
HP:0004323	Abnormality of body weight	145173	B3GLCT	OMIM:261540
HP:0004323	Abnormality of body weight	5530	PPP3CA	OMIM:618265
HP:0004323	Abnormality of body weight	6711	SPTBN1	OMIM:619475
HP:0004323	Abnormality of body weight	51633	OTUD6B	OMIM:617452
HP:0004323	Abnormality of body weight	51633	OTUD6B	ORPHA:505237
HP:0004323	Abnormality of body weight	3643	INSR	ORPHA:508
HP:0004323	Abnormality of body weight	80152	CENPT	OMIM:618702
HP:0004323	Abnormality of body weight	150468	CKAP2L	OMIM:272440
HP:0004323	Abnormality of body weight	8720	MBTPS1	OMIM:618392
HP:0004323	Abnormality of body weight	79718	TBL1XR1	OMIM:602342
HP:0004323	Abnormality of body weight	2316	FLNA	OMIM:300321
HP:0004323	Abnormality of body weight	54880	BCOR	OMIM:300166
HP:0004323	Abnormality of body weight	5162	PDHB	ORPHA:255138
HP:0004323	Abnormality of body weight	8567	MADD	OMIM:619004
HP:0004323	Abnormality of body weight	8567	MADD	OMIM:619005
HP:0004323	Abnormality of body weight	8318	CDC45	OMIM:617063
HP:0004323	Abnormality of body weight	1654	DDX3X	OMIM:300958
HP:0004323	Abnormality of body weight	3708	ITPR1	OMIM:117360
HP:0004323	Abnormality of body weight	93587	TRMT10A	ORPHA:391408
HP:0004323	Abnormality of body weight	84919	PPP1R15B	ORPHA:391408
HP:0004323	Abnormality of body weight	126792	B3GALT6	OMIM:271640
HP:0004323	Abnormality of body weight	126792	B3GALT6	OMIM:615349
HP:0004323	Abnormality of body weight	259266	ASPM	OMIM:608716
HP:0004323	Abnormality of body weight	8242	KDM5C	OMIM:300534
HP:0004323	Abnormality of body weight	9968	MED12	OMIM:300895
HP:0004323	Abnormality of body weight	3739	KCNA4	OMIM:618284
HP:0004323	Abnormality of body weight	85365	ALG2	OMIM:607906
HP:0004323	Abnormality of body weight	84231	TRAF7	OMIM:618164
HP:0004323	Abnormality of body weight	8481	OFD1	OMIM:300804
HP:0004323	Abnormality of body weight	2806	GOT2	OMIM:618721
HP:0004323	Abnormality of body weight	55835	CPAP	OMIM:613676
HP:0004323	Abnormality of body weight	5824	PEX19	OMIM:614886
HP:0004323	Abnormality of body weight	1788	DNMT3A	OMIM:618724
HP:0004323	Abnormality of body weight	3339	HSPG2	ORPHA:800
HP:0004323	Abnormality of body weight	9451	EIF2AK3	ORPHA:1667
HP:0004323	Abnormality of body weight	506	ATP5F1B	OMIM:620085
HP:0004323	Abnormality of body weight	4204	MECP2	OMIM:300260
HP:0004323	Abnormality of body weight	5611	DNAJC3	ORPHA:445062
HP:0004323	Abnormality of body weight	1804	DPP6	OMIM:616311
HP:0004323	Abnormality of body weight	83452	RAB33B	OMIM:615222
HP:0004323	Abnormality of body weight	22930	RAB3GAP1	OMIM:619420
HP:0004323	Abnormality of body weight	9276	COPB2	OMIM:617800
HP:0004323	Abnormality of body weight	10892	MALT1	OMIM:615468
HP:0004323	Abnormality of body weight	529	ATP6V1E1	OMIM:617402
HP:0004323	Abnormality of body weight	5426	POLE	OMIM:618336
HP:0004323	Abnormality of body weight	27445	PCLO	OMIM:608027
HP:0004323	Abnormality of body weight	3480	IGF1R	OMIM:270450
HP:0004323	Abnormality of body weight	27152	INTU	OMIM:617926
HP:0004323	Abnormality of body weight	90952	ESAM	OMIM:620371
HP:0004323	Abnormality of body weight	8506	CNTNAP1	OMIM:618186
HP:0004323	Abnormality of body weight	54832	VPS13C	OMIM:616840
HP:0004323	Abnormality of body weight	9935	MAFB	ORPHA:2774
HP:0004323	Abnormality of body weight	4591	TRIM37	ORPHA:2576
HP:0004323	Abnormality of body weight	10280	SIGMAR1	ORPHA:300605
HP:0004323	Abnormality of body weight	10558	SPTLC1	ORPHA:300605
HP:0004323	Abnormality of body weight	57679	ALS2	ORPHA:300605
HP:0004323	Abnormality of body weight	3662	IRF4	ORPHA:3452
HP:0004323	Abnormality of body weight	34	ACADM	ORPHA:42
HP:0004323	Abnormality of body weight	6240	RRM1	OMIM:620647
HP:0004323	Abnormality of body weight	545	ATR	ORPHA:808
HP:0004323	Abnormality of body weight	79902	NUP85	ORPHA:808
HP:0004323	Abnormality of body weight	84126	ATRIP	ORPHA:808
HP:0004323	Abnormality of body weight	22995	CEP152	ORPHA:808
HP:0004323	Abnormality of body weight	10733	PLK4	ORPHA:808
HP:0004323	Abnormality of body weight	4683	NBN	ORPHA:647
HP:0004323	Abnormality of body weight	10273	STUB1	OMIM:618093
HP:0004323	Abnormality of body weight	59341	TRPV4	ORPHA:1216
HP:0004323	Abnormality of body weight	916	CD3E	ORPHA:169160
HP:0004323	Abnormality of body weight	3991	LIPE	OMIM:615980
HP:0004323	Abnormality of body weight	79576	NKAP	OMIM:301039
HP:0004323	Abnormality of body weight	8882	ZPR1	OMIM:619321
HP:0004323	Abnormality of body weight	54805	CNNM2	OMIM:616418
HP:0004323	Abnormality of body weight	84679	SLC9A7	OMIM:301024
HP:0004323	Abnormality of body weight	10717	AP4B1	ORPHA:280763
HP:0004323	Abnormality of body weight	10717	AP4B1	OMIM:614066
HP:0004323	Abnormality of body weight	9179	AP4M1	ORPHA:280763
HP:0004323	Abnormality of body weight	11154	AP4S1	ORPHA:280763
HP:0004323	Abnormality of body weight	23431	AP4E1	ORPHA:280763
HP:0004323	Abnormality of body weight	23431	AP4E1	OMIM:613744
HP:0004323	Abnormality of body weight	57551	TAOK1	OMIM:619575
HP:0004323	Abnormality of body weight	7874	USP7	ORPHA:500055
HP:0004323	Abnormality of body weight	55870	ASH1L	OMIM:617796
HP:0004323	Abnormality of body weight	146862	UNC45B	OMIM:619178
HP:0004323	Abnormality of body weight	5626	PROP1	ORPHA:226307
HP:0004323	Abnormality of body weight	89884	LHX4	ORPHA:226307
HP:0004323	Abnormality of body weight	8022	LHX3	ORPHA:226307
HP:0004323	Abnormality of body weight	5449	POU1F1	ORPHA:226307
HP:0004323	Abnormality of body weight	22859	ADGRL1	OMIM:620065
HP:0004323	Abnormality of body weight	7201	TRHR	ORPHA:99832
HP:0004323	Abnormality of body weight	1513	CTSK	ORPHA:763
HP:0004323	Abnormality of body weight	219854	TMEM218	OMIM:619562
HP:0004323	Abnormality of body weight	3547	IGSF1	OMIM:300888
HP:0004323	Abnormality of body weight	57187	THOC2	ORPHA:457240
HP:0004323	Abnormality of body weight	51341	ZBTB7A	OMIM:619769
HP:0004323	Abnormality of body weight	9325	TRIP4	ORPHA:486815
HP:0004323	Abnormality of body weight	6934	TCF7L2	OMIM:125853
HP:0004323	Abnormality of body weight	3990	LIPC	OMIM:125853
HP:0004323	Abnormality of body weight	5506	PPP1R3A	OMIM:125853
HP:0004323	Abnormality of body weight	169026	SLC30A8	OMIM:125853
HP:0004323	Abnormality of body weight	2820	GPD2	OMIM:125853
HP:0004323	Abnormality of body weight	6928	HNF1B	OMIM:125853
HP:0004323	Abnormality of body weight	5770	PTPN1	OMIM:125853
HP:0004323	Abnormality of body weight	8660	IRS2	OMIM:125853
HP:0004323	Abnormality of body weight	3159	HMGA1	OMIM:125853
HP:0004323	Abnormality of body weight	3667	IRS1	OMIM:125853
HP:0004323	Abnormality of body weight	9479	MAPK8IP1	OMIM:125853
HP:0004323	Abnormality of body weight	4544	MTNR1B	OMIM:125853
HP:0004323	Abnormality of body weight	56729	RETN	OMIM:125853
HP:0004323	Abnormality of body weight	7466	WFS1	OMIM:125853
HP:0004323	Abnormality of body weight	10644	IGF2BP2	OMIM:125853
HP:0004323	Abnormality of body weight	3767	KCNJ11	OMIM:616329
HP:0004323	Abnormality of body weight	56172	ANKH	ORPHA:1416
HP:0004321	Bladder fistula	8195	MKKS	OMIM:236700
HP:0004321	Bladder fistula	5447	POR	OMIM:201750
HP:0004321	Bladder fistula	7355	SLC35A2	OMIM:300896
HP:0004320	Vaginal fistula	9361	LONP1	OMIM:600373
HP:0004320	Vaginal fistula	57167	SALL4	OMIM:147750
HP:0004320	Vaginal fistula	57167	SALL4	ORPHA:2307
HP:0004320	Vaginal fistula	92002	CCNQ	OMIM:300707
HP:0004320	Vaginal fistula	8195	MKKS	OMIM:236700
HP:0004320	Vaginal fistula	3588	IL10RB	OMIM:612567
HP:0004320	Vaginal fistula	3110	MNX1	OMIM:176450
HP:0004320	Vaginal fistula	26123	TCTN3	ORPHA:2753
HP:0004320	Vaginal fistula	10653	SPINT2	OMIM:270420
HP:0004320	Vaginal fistula	84172	POLR1B	ORPHA:861
HP:0004320	Vaginal fistula	9533	POLR1C	ORPHA:861
HP:0004320	Vaginal fistula	51082	POLR1D	ORPHA:861
HP:0004320	Vaginal fistula	6949	TCOF1	ORPHA:861
HP:0004320	Vaginal fistula	9401	RECQL4	OMIM:218600
HP:0004320	Vaginal fistula	197131	UBR1	OMIM:243800
HP:0004320	Vaginal fistula	6299	SALL1	OMIM:107480
HP:0004320	Vaginal fistula	6299	SALL1	ORPHA:857
HP:0004320	Vaginal fistula	267010	RNU12	OMIM:603116
HP:0004320	Vaginal fistula	374654	KIF7	OMIM:200990
HP:0004320	Vaginal fistula	51339	DACT1	OMIM:617466
HP:0004320	Vaginal fistula	51339	DACT1	ORPHA:857
HP:0004320	Vaginal fistula	1642	DDB1	OMIM:619426
HP:0004320	Vaginal fistula	3718	JAK3	ORPHA:35078
HP:0004320	Vaginal fistula	158326	FREM1	OMIM:608980
HP:0004320	Vaginal fistula	5297	PI4KA	OMIM:619708
HP:0004320	Vaginal fistula	5447	POR	OMIM:201750
HP:0004320	Vaginal fistula	7355	SLC35A2	OMIM:300896
HP:0004320	Vaginal fistula	6650	CAPN15	OMIM:619318
HP:0004320	Vaginal fistula	55112	DYNC2I1	ORPHA:93271
HP:0004320	Vaginal fistula	57560	IFT80	ORPHA:93271
HP:0004320	Vaginal fistula	57539	WDR35	ORPHA:93271
HP:0004320	Vaginal fistula	79659	DYNC2H1	ORPHA:93271
HP:0004320	Vaginal fistula	89891	DYNC2I2	ORPHA:93271
HP:0008163	Decreased circulating cortisol level	9095	TBX19	ORPHA:199296
HP:0008163	Decreased circulating cortisol level	9095	TBX19	OMIM:201400
HP:0008163	Decreased circulating cortisol level	4791	NFKB2	ORPHA:293978
HP:0008163	Decreased circulating cortisol level	5122	PCSK1	OMIM:600955
HP:0008163	Decreased circulating cortisol level	5447	POR	OMIM:201750
HP:0008163	Decreased circulating cortisol level	5447	POR	ORPHA:95699
HP:0008163	Decreased circulating cortisol level	4158	MC2R	OMIM:202200
HP:0008163	Decreased circulating cortisol level	4158	MC2R	ORPHA:361
HP:0008163	Decreased circulating cortisol level	215	ABCD1	ORPHA:139396
HP:0008163	Decreased circulating cortisol level	4358	MPV17	OMIM:256810
HP:0008163	Decreased circulating cortisol level	1583	CYP11A1	ORPHA:168558
HP:0008163	Decreased circulating cortisol level	1583	CYP11A1	ORPHA:289548
HP:0008163	Decreased circulating cortisol level	6091	ROBO1	OMIM:620305
HP:0008163	Decreased circulating cortisol level	8314	BAP1	ORPHA:2495
HP:0008163	Decreased circulating cortisol level	4771	NF2	ORPHA:2495
HP:0008163	Decreased circulating cortisol level	6598	SMARCB1	ORPHA:2495
HP:0008163	Decreased circulating cortisol level	5155	PDGFB	ORPHA:2495
HP:0008163	Decreased circulating cortisol level	84231	TRAF7	ORPHA:2495
HP:0008163	Decreased circulating cortisol level	6608	SMO	ORPHA:2495
HP:0008163	Decreased circulating cortisol level	207	AKT1	ORPHA:2495
HP:0008163	Decreased circulating cortisol level	5290	PIK3CA	ORPHA:2495
HP:0008163	Decreased circulating cortisol level	7015	TERT	ORPHA:2495
HP:0008163	Decreased circulating cortisol level	51684	SUFU	ORPHA:2495
HP:0008163	Decreased circulating cortisol level	6605	SMARCE1	ORPHA:2495
HP:0008163	Decreased circulating cortisol level	29926	GMPPA	ORPHA:869
HP:0008163	Decreased circulating cortisol level	60684	TRAPPC11	ORPHA:869
HP:0008163	Decreased circulating cortisol level	8086	AAAS	ORPHA:869
HP:0008163	Decreased circulating cortisol level	8086	AAAS	OMIM:231550
HP:0008163	Decreased circulating cortisol level	56246	MRAP	ORPHA:361
HP:0008163	Decreased circulating cortisol level	56246	MRAP	OMIM:607398
HP:0008163	Decreased circulating cortisol level	6770	STAR	ORPHA:361
HP:0008163	Decreased circulating cortisol level	23530	NNT	ORPHA:361
HP:0008163	Decreased circulating cortisol level	23530	NNT	OMIM:614736
HP:0008163	Decreased circulating cortisol level	10587	TXNRD2	ORPHA:361
HP:0008163	Decreased circulating cortisol level	10587	TXNRD2	OMIM:617825
HP:0008163	Decreased circulating cortisol level	190	NR0B1	OMIM:300200
HP:0008163	Decreased circulating cortisol level	190	NR0B1	ORPHA:95702
HP:0008163	Decreased circulating cortisol level	5443	POMC	OMIM:609734
HP:0008163	Decreased circulating cortisol level	55278	QRSL1	OMIM:618835
HP:0008163	Decreased circulating cortisol level	5188	GATB	OMIM:618838
HP:0008163	Decreased circulating cortisol level	866	SERPINA6	OMIM:611489
HP:0008163	Decreased circulating cortisol level	3284	HSD3B2	ORPHA:90791
HP:0008163	Decreased circulating cortisol level	283459	GATC	OMIM:618839
HP:0008163	Decreased circulating cortisol level	2737	GLI3	OMIM:146510
HP:0008163	Decreased circulating cortisol level	1586	CYP17A1	ORPHA:90793
HP:0008163	Decreased circulating cortisol level	1584	CYP11B1	ORPHA:90795
HP:0003118	Increased circulating cortisol level	4221	MEN1	ORPHA:652
HP:0003118	Increased circulating cortisol level	4221	MEN1	OMIM:131100
HP:0003118	Increased circulating cortisol level	1027	CDKN1B	ORPHA:652
HP:0003118	Increased circulating cortisol level	1027	CDKN1B	ORPHA:276152
HP:0003118	Increased circulating cortisol level	1026	CDKN1A	ORPHA:652
HP:0003118	Increased circulating cortisol level	1030	CDKN2B	ORPHA:652
HP:0003118	Increased circulating cortisol level	1031	CDKN2C	ORPHA:652
HP:0003118	Increased circulating cortisol level	84196	USP48	ORPHA:96253
HP:0003118	Increased circulating cortisol level	7157	TP53	ORPHA:96253
HP:0003118	Increased circulating cortisol level	7157	TP53	ORPHA:1501
HP:0003118	Increased circulating cortisol level	9101	USP8	ORPHA:96253
HP:0003118	Increased circulating cortisol level	64072	CDH23	ORPHA:96253
HP:0003118	Increased circulating cortisol level	2908	NR3C1	ORPHA:96253
HP:0003118	Increased circulating cortisol level	2908	NR3C1	ORPHA:786
HP:0003118	Increased circulating cortisol level	2908	NR3C1	OMIM:615962
HP:0003118	Increased circulating cortisol level	673	BRAF	ORPHA:96253
HP:0003118	Increased circulating cortisol level	546	ATRX	ORPHA:96253
HP:0003118	Increased circulating cortisol level	2778	GNAS	OMIM:174800
HP:0003118	Increased circulating cortisol level	2778	GNAS	OMIM:219080
HP:0003118	Increased circulating cortisol level	2778	GNAS	ORPHA:562
HP:0003118	Increased circulating cortisol level	2778	GNAS	OMIM:617686
HP:0003118	Increased circulating cortisol level	2778	GNAS	ORPHA:189427
HP:0003118	Increased circulating cortisol level	5566	PRKACA	OMIM:615830
HP:0003118	Increased circulating cortisol level	23040	MYT1L	OMIM:616521
HP:0003118	Increased circulating cortisol level	79798	ARMC5	OMIM:615954
HP:0003118	Increased circulating cortisol level	79798	ARMC5	ORPHA:189427
HP:0003118	Increased circulating cortisol level	5573	PRKAR1A	OMIM:610489
HP:0003118	Increased circulating cortisol level	5573	PRKAR1A	ORPHA:1501
HP:0003118	Increased circulating cortisol level	5573	PRKAR1A	ORPHA:1359
HP:0003118	Increased circulating cortisol level	3767	KCNJ11	ORPHA:79644
HP:0003118	Increased circulating cortisol level	84133	ZNRF3	ORPHA:1501
HP:0003118	Increased circulating cortisol level	1499	CTNNB1	ORPHA:1501
HP:0003118	Increased circulating cortisol level	1029	CDKN2A	ORPHA:1501
HP:0003118	Increased circulating cortisol level	7015	TERT	ORPHA:1501
HP:0003118	Increased circulating cortisol level	5621	PRNP	ORPHA:466
HP:0003118	Increased circulating cortisol level	8622	PDE8B	OMIM:614190
HP:0003118	Increased circulating cortisol level	5979	RET	OMIM:171400
HP:0003118	Increased circulating cortisol level	23028	KDM1A	ORPHA:189427
HP:0003118	Increased circulating cortisol level	3350	HTR1A	OMIM:614674
HP:0003118	Increased circulating cortisol level	50940	PDE11A	OMIM:610475
HP:0003118	Increased circulating cortisol level	50940	PDE11A	ORPHA:1359
HP:0003118	Increased circulating cortisol level	326	AIRE	ORPHA:3453
HP:0003118	Increased circulating cortisol level	5447	POR	OMIM:201750
HP:0003118	Increased circulating cortisol level	1585	CYP11B2	ORPHA:556030
HP:0003118	Increased circulating cortisol level	1584	CYP11B1	OMIM:202010
HP:0003118	Increased circulating cortisol level	1589	CYP21A2	OMIM:201910
HP:0004315	Decreased circulating IgG concentration	2137	EXTL3	ORPHA:508533
HP:0004315	Decreased circulating IgG concentration	2137	EXTL3	OMIM:617425
HP:0004315	Decreased circulating IgG concentration	3561	IL2RG	ORPHA:276
HP:0004315	Decreased circulating IgG concentration	3561	IL2RG	OMIM:312863
HP:0004315	Decreased circulating IgG concentration	3561	IL2RG	OMIM:300400
HP:0004315	Decreased circulating IgG concentration	355	FAS	ORPHA:3261
HP:0004315	Decreased circulating IgG concentration	356	FASLG	ORPHA:3261
HP:0004315	Decreased circulating IgG concentration	843	CASP10	ORPHA:3261
HP:0004315	Decreased circulating IgG concentration	64421	DCLRE1C	ORPHA:275
HP:0004315	Decreased circulating IgG concentration	695	BTK	OMIM:300755
HP:0004315	Decreased circulating IgG concentration	5993	RFX5	OMIM:620818
HP:0004315	Decreased circulating IgG concentration	5993	RFX5	OMIM:620816
HP:0004315	Decreased circulating IgG concentration	1493	CTLA4	ORPHA:436159
HP:0004315	Decreased circulating IgG concentration	1493	CTLA4	OMIM:616100
HP:0004315	Decreased circulating IgG concentration	5994	RFXAP	OMIM:620817
HP:0004315	Decreased circulating IgG concentration	5880	RAC2	OMIM:618986
HP:0004315	Decreased circulating IgG concentration	5880	RAC2	OMIM:618987
HP:0004315	Decreased circulating IgG concentration	3932	LCK	OMIM:615758
HP:0004315	Decreased circulating IgG concentration	6948	TCN2	OMIM:275350
HP:0004315	Decreased circulating IgG concentration	6948	TCN2	ORPHA:859
HP:0004315	Decreased circulating IgG concentration	987	LRBA	OMIM:614700
HP:0004315	Decreased circulating IgG concentration	959	CD40LG	OMIM:308230
HP:0004315	Decreased circulating IgG concentration	5293	PIK3CD	OMIM:619281
HP:0004315	Decreased circulating IgG concentration	7555	CNBP	OMIM:602668
HP:0004315	Decreased circulating IgG concentration	57379	AICDA	OMIM:605258
HP:0004315	Decreased circulating IgG concentration	5424	POLD1	OMIM:620836
HP:0004315	Decreased circulating IgG concentration	841	CASP8	OMIM:607271
HP:0004315	Decreased circulating IgG concentration	472	ATM	OMIM:208900
HP:0004315	Decreased circulating IgG concentration	59067	IL21	OMIM:615767
HP:0004315	Decreased circulating IgG concentration	29760	BLNK	OMIM:613502
HP:0004315	Decreased circulating IgG concentration	5698	PSMB9	OMIM:620796
HP:0004315	Decreased circulating IgG concentration	868	CBLB	OMIM:620430
HP:0004315	Decreased circulating IgG concentration	29927	SEC61A1	OMIM:620670
HP:0004315	Decreased circulating IgG concentration	4068	SH2D1A	OMIM:308240
HP:0004315	Decreased circulating IgG concentration	331	XIAP	OMIM:308240
HP:0004315	Decreased circulating IgG concentration	7298	TYMS	OMIM:620040
HP:0004315	Decreased circulating IgG concentration	3604	TNFRSF9	OMIM:620282
HP:0004315	Decreased circulating IgG concentration	915	CD3D	ORPHA:169160
HP:0004315	Decreased circulating IgG concentration	916	CD3E	ORPHA:169160
HP:0004315	Decreased circulating IgG concentration	919	CD247	ORPHA:169160
HP:0004315	Decreased circulating IgG concentration	65082	VPS33A	ORPHA:505248
HP:0004315	Decreased circulating IgG concentration	55687	TRMU	OMIM:613070
HP:0004315	Decreased circulating IgG concentration	115650	TNFRSF13C	OMIM:240500
HP:0004315	Decreased circulating IgG concentration	115650	TNFRSF13C	OMIM:613494
HP:0004315	Decreased circulating IgG concentration	29851	ICOS	OMIM:240500
HP:0004315	Decreased circulating IgG concentration	29851	ICOS	OMIM:607594
HP:0004315	Decreased circulating IgG concentration	930	CD19	OMIM:240500
HP:0004315	Decreased circulating IgG concentration	23495	TNFRSF13B	OMIM:240500
HP:0004315	Decreased circulating IgG concentration	1380	CR2	OMIM:240500
HP:0004315	Decreased circulating IgG concentration	84876	ORAI1	OMIM:612782
HP:0004315	Decreased circulating IgG concentration	1503	CTPS1	OMIM:615897
HP:0004315	Decreased circulating IgG concentration	7852	CXCR4	OMIM:193670
HP:0004315	Decreased circulating IgG concentration	5896	RAG1	ORPHA:331206
HP:0004315	Decreased circulating IgG concentration	5896	RAG1	OMIM:233650
HP:0004315	Decreased circulating IgG concentration	5897	RAG2	ORPHA:331206
HP:0004315	Decreased circulating IgG concentration	5897	RAG2	OMIM:233650
HP:0004315	Decreased circulating IgG concentration	6573	SLC19A1	OMIM:620603
HP:0004315	Decreased circulating IgG concentration	9020	MAP3K14	OMIM:620449
HP:0004315	Decreased circulating IgG concentration	6786	STIM1	OMIM:612783
HP:0004315	Decreased circulating IgG concentration	8792	TNFRSF11A	OMIM:612301
HP:0004315	Decreased circulating IgG concentration	3431	SP110	OMIM:235550
HP:0004315	Decreased circulating IgG concentration	79087	ALG12	OMIM:607143
HP:0004315	Decreased circulating IgG concentration	2068	ERCC2	OMIM:601675
HP:0004315	Decreased circulating IgG concentration	7374	UNG	OMIM:608106
HP:0004315	Decreased circulating IgG concentration	958	CD40	OMIM:606843
HP:0004315	Decreased circulating IgG concentration	567	B2M	OMIM:241600
HP:0004315	Decreased circulating IgG concentration	10125	RASGRP1	OMIM:618534
HP:0004315	Decreased circulating IgG concentration	8517	IKBKG	ORPHA:98813
HP:0004315	Decreased circulating IgG concentration	8517	IKBKG	OMIM:301081
HP:0004315	Decreased circulating IgG concentration	4792	NFKBIA	ORPHA:98813
HP:0004315	Decreased circulating IgG concentration	8883	NAE1	OMIM:620210
HP:0004315	Decreased circulating IgG concentration	5373	PMM2	OMIM:212065
HP:0004315	Decreased circulating IgG concentration	10043	TOM1	OMIM:619510
HP:0004315	Decreased circulating IgG concentration	3572	IL6ST	OMIM:619752
HP:0004315	Decreased circulating IgG concentration	3702	ITK	OMIM:613011
HP:0004315	Decreased circulating IgG concentration	5295	PIK3R1	OMIM:616005
HP:0004315	Decreased circulating IgG concentration	9841	ZBTB24	OMIM:614069
HP:0004315	Decreased circulating IgG concentration	3570	IL6R	OMIM:618944
HP:0004315	Decreased circulating IgG concentration	54440	SASH3	OMIM:301082
HP:0004315	Decreased circulating IgG concentration	4796	TONSL	OMIM:271510
HP:0004315	Decreased circulating IgG concentration	4247	MGAT2	ORPHA:79329
HP:0004315	Decreased circulating IgG concentration	1457	CSNK2A1	OMIM:617062
HP:0004315	Decreased circulating IgG concentration	374354	NHLRC2	OMIM:618278
HP:0004315	Decreased circulating IgG concentration	60468	BACH2	OMIM:618394
HP:0004315	Decreased circulating IgG concentration	974	CD79B	OMIM:612692
HP:0004315	Decreased circulating IgG concentration	5788	PTPRC	OMIM:619924
HP:0004315	Decreased circulating IgG concentration	11005	SPINK5	OMIM:256500
HP:0004315	Decreased circulating IgG concentration	641	BLM	OMIM:210900
HP:0004315	Decreased circulating IgG concentration	641	BLM	ORPHA:125
HP:0004315	Decreased circulating IgG concentration	55072	RNF31	OMIM:620632
HP:0004315	Decreased circulating IgG concentration	5294	PIK3CG	OMIM:619802
HP:0004315	Decreased circulating IgG concentration	7841	MOGS	ORPHA:79330
HP:0004315	Decreased circulating IgG concentration	3718	JAK3	ORPHA:35078
HP:0004315	Decreased circulating IgG concentration	57724	EPG5	OMIM:242840
HP:0004315	Decreased circulating IgG concentration	57724	EPG5	ORPHA:1493
HP:0004315	Decreased circulating IgG concentration	5966	REL	OMIM:619652
HP:0004315	Decreased circulating IgG concentration	139818	DOCK11	OMIM:301109
HP:0004315	Decreased circulating IgG concentration	3978	LIG1	OMIM:619774
HP:0004315	Decreased circulating IgG concentration	6651	SON	ORPHA:500150
HP:0004315	Decreased circulating IgG concentration	4791	NFKB2	OMIM:615577
HP:0004315	Decreased circulating IgG concentration	5557	PRIM1	OMIM:620005
HP:0004315	Decreased circulating IgG concentration	3514	IGKC	ORPHA:183675
HP:0004315	Decreased circulating IgG concentration	3501	IGHG2	ORPHA:183675
HP:0004315	Decreased circulating IgG concentration	51311	TLR8	OMIM:301078
HP:0004315	Decreased circulating IgG concentration	8884	SLC5A6	OMIM:618973
HP:0004315	Decreased circulating IgG concentration	8625	RFXANK	OMIM:620815
HP:0004315	Decreased circulating IgG concentration	96459	FNIP1	OMIM:619705
HP:0004315	Decreased circulating IgG concentration	359948	IRF2BP2	OMIM:617765
HP:0004315	Decreased circulating IgG concentration	6688	SPI1	OMIM:619707
HP:0004315	Decreased circulating IgG concentration	9138	ARHGEF1	OMIM:618459
HP:0004315	Decreased circulating IgG concentration	84888	SPPL2A	OMIM:619549
HP:0004315	Decreased circulating IgG concentration	6929	TCF3	OMIM:619824
HP:0004315	Decreased circulating IgG concentration	165918	RNF168	OMIM:611943
HP:0004315	Decreased circulating IgG concentration	165918	RNF168	ORPHA:420741
HP:0004315	Decreased circulating IgG concentration	100	ADA	OMIM:102700
HP:0004315	Decreased circulating IgG concentration	30011	SH3KBP1	OMIM:300310
HP:0004315	Decreased circulating IgG concentration	6850	SYK	OMIM:619381
HP:0004315	Decreased circulating IgG concentration	10625	IVNS1ABP	OMIM:618969
HP:0004315	Decreased circulating IgG concentration	537	ATP6AP1	OMIM:300972
HP:0004315	Decreased circulating IgG concentration	90417	KNSTRN	ORPHA:221139
HP:0004315	Decreased circulating IgG concentration	5699	PSMB10	OMIM:620807
HP:0004315	Decreased circulating IgG concentration	8085	KMT2D	OMIM:147920
HP:0004315	Decreased circulating IgG concentration	7403	KDM6A	OMIM:147920
HP:0004315	Decreased circulating IgG concentration	975	CD81	OMIM:613496
HP:0004315	Decreased circulating IgG concentration	931	MS4A1	OMIM:613495
HP:0004315	Decreased circulating IgG concentration	64135	IFIH1	OMIM:619773
HP:0004315	Decreased circulating IgG concentration	917	CD3G	OMIM:615607
HP:0004315	Decreased circulating IgG concentration	7737	RNF113A	OMIM:300953
HP:0004333	Bone-marrow foam cells	6609	SMPD1	OMIM:607616
HP:0004333	Bone-marrow foam cells	6609	SMPD1	OMIM:257200
HP:0004333	Bone-marrow foam cells	3988	LIPA	OMIM:278000
HP:0004333	Bone-marrow foam cells	3988	LIPA	ORPHA:75233
HP:0004333	Bone-marrow foam cells	10577	NPC2	OMIM:607625
HP:0004333	Bone-marrow foam cells	4864	NPC1	OMIM:257220
HP:0004333	Bone-marrow foam cells	4758	NEU1	OMIM:256550
HP:0001171	Split hand	64840	PORCN	OMIM:305600
HP:0001171	Split hand	64840	PORCN	ORPHA:2092
HP:0001171	Split hand	5376	PMP22	OMIM:118300
HP:0001171	Split hand	5376	PMP22	OMIM:118220
HP:0001171	Split hand	5376	PMP22	ORPHA:90658
HP:0001171	Split hand	5376	PMP22	OMIM:145900
HP:0001171	Split hand	6910	TBX5	ORPHA:392
HP:0001171	Split hand	3094	HINT1	ORPHA:324442
HP:0001171	Split hand	22880	MORC2	OMIM:616688
HP:0001171	Split hand	1001	CDH3	OMIM:225280
HP:0001171	Split hand	9231	DLG5	OMIM:620703
HP:0001171	Split hand	8626	TP63	OMIM:604292
HP:0001171	Split hand	8626	TP63	ORPHA:2440
HP:0001171	Split hand	8626	TP63	OMIM:103285
HP:0001171	Split hand	8626	TP63	OMIM:603543
HP:0001171	Split hand	8626	TP63	OMIM:605289
HP:0001171	Split hand	8626	TP63	ORPHA:1896
HP:0001171	Split hand	4047	LSS	ORPHA:2850
HP:0001171	Split hand	197	AHSG	ORPHA:2850
HP:0001171	Split hand	3694	ITGB6	ORPHA:2850
HP:0001171	Split hand	79581	SLC52A2	OMIM:614707
HP:0001171	Split hand	411	ARSB	OMIM:253200
HP:0001171	Split hand	9150	CTDP1	OMIM:604168
HP:0001171	Split hand	54332	GDAP1	OMIM:607831
HP:0001171	Split hand	54332	GDAP1	ORPHA:101097
HP:0001171	Split hand	56704	JPH1	OMIM:607831
HP:0001171	Split hand	51776	MAP3K20	OMIM:616890
HP:0001171	Split hand	1750	DLX6	ORPHA:2440
HP:0001171	Split hand	7979	SEM1	ORPHA:2440
HP:0001171	Split hand	8945	BTRC	ORPHA:2440
HP:0001171	Split hand	58513	EPS15L1	ORPHA:2440
HP:0001171	Split hand	6468	FBXW4	ORPHA:2440
HP:0001171	Split hand	7480	WNT10B	ORPHA:2440
HP:0001171	Split hand	7480	WNT10B	OMIM:225300
HP:0001171	Split hand	1749	DLX5	ORPHA:2440
HP:0001171	Split hand	1749	DLX5	OMIM:183600
HP:0001171	Split hand	1749	DLX5	OMIM:220600
HP:0001171	Split hand	1717	DHCR7	ORPHA:818
HP:0001171	Split hand	9968	MED12	OMIM:305450
HP:0001171	Split hand	81846	SBF2	OMIM:604563
HP:0001171	Split hand	79158	GNPTAB	OMIM:252500
HP:0001171	Split hand	3516	RBPJ	ORPHA:974
HP:0001171	Split hand	4851	NOTCH1	ORPHA:974
HP:0001171	Split hand	57514	ARHGAP31	ORPHA:974
HP:0001171	Split hand	57572	DOCK6	ORPHA:974
HP:0001171	Split hand	285203	EOGT	ORPHA:974
HP:0001171	Split hand	54567	DLL4	ORPHA:974
HP:0001171	Split hand	8888	MCM3AP	OMIM:618124
HP:0001171	Split hand	4359	MPZ	OMIM:118200
HP:0001171	Split hand	4359	MPZ	OMIM:145900
HP:0001171	Split hand	3423	IDS	OMIM:309900
HP:0001171	Split hand	3664	IRF6	ORPHA:1300
HP:0001171	Split hand	727857	BHLHA9	ORPHA:3329
HP:0001171	Split hand	2261	FGFR3	ORPHA:1860
HP:0001171	Split hand	374969	SVBP	OMIM:618569
HP:0001171	Split hand	3295	HSD17B4	OMIM:261515
HP:0001171	Split hand	7476	WNT7A	OMIM:276820
HP:0001171	Split hand	1509	CTSD	OMIM:610127
HP:0001171	Split hand	64359	NXN	ORPHA:1507
HP:0001171	Split hand	4920	ROR2	ORPHA:1507
HP:0001171	Split hand	26580	BSCL2	OMIM:270685
HP:0001171	Split hand	26580	BSCL2	ORPHA:100998
HP:0001171	Split hand	26123	TCTN3	ORPHA:2753
HP:0001171	Split hand	4313	MMP2	OMIM:259600
HP:0001171	Split hand	2260	FGFR1	ORPHA:2117
HP:0001171	Split hand	10397	NDRG1	ORPHA:99950
HP:0001171	Split hand	10815	CPLX1	ORPHA:280
HP:0001171	Split hand	10815	CPLX1	OMIM:194190
HP:0001171	Split hand	54872	PIGG	ORPHA:280
HP:0001171	Split hand	7469	NELFA	ORPHA:280
HP:0001171	Split hand	1487	CTBP1	ORPHA:280
HP:0001171	Split hand	1487	CTBP1	OMIM:194190
HP:0001171	Split hand	3954	LETM1	ORPHA:280
HP:0001171	Split hand	3954	LETM1	OMIM:194190
HP:0001171	Split hand	7468	NSD2	ORPHA:280
HP:0001171	Split hand	7468	NSD2	OMIM:194190
HP:0001171	Split hand	4747	NEFL	OMIM:617882
HP:0001171	Split hand	3178	HNRNPA1	OMIM:610099
HP:0001171	Split hand	53834	FGFRL1	OMIM:194190
HP:0001171	Split hand	1959	EGR2	OMIM:145900
HP:0001171	Split hand	57716	PRX	OMIM:145900
HP:0001171	Split hand	2737	GLI3	ORPHA:93322
HP:0001172	Abnormal thumb morphology	10262	SF3B4	OMIM:154400
HP:0001172	Abnormal thumb morphology	2189	FANCG	OMIM:614082
HP:0001172	Abnormal thumb morphology	2189	FANCG	ORPHA:84
HP:0001172	Abnormal thumb morphology	80207	OPA3	ORPHA:67036
HP:0001172	Abnormal thumb morphology	9158	FIBP	ORPHA:500095
HP:0001172	Abnormal thumb morphology	9968	MED12	ORPHA:93932
HP:0001172	Abnormal thumb morphology	8200	GDF5	ORPHA:2639
HP:0001172	Abnormal thumb morphology	658	BMPR1B	ORPHA:2639
HP:0001172	Abnormal thumb morphology	672	BRCA1	ORPHA:84
HP:0001172	Abnormal thumb morphology	10459	MAD2L2	ORPHA:84
HP:0001172	Abnormal thumb morphology	7516	XRCC2	ORPHA:84
HP:0001172	Abnormal thumb morphology	29089	UBE2T	ORPHA:84
HP:0001172	Abnormal thumb morphology	675	BRCA2	ORPHA:84
HP:0001172	Abnormal thumb morphology	55120	FANCL	ORPHA:84
HP:0001172	Abnormal thumb morphology	2177	FANCD2	ORPHA:84
HP:0001172	Abnormal thumb morphology	2175	FANCA	ORPHA:84
HP:0001172	Abnormal thumb morphology	2187	FANCB	ORPHA:84
HP:0001172	Abnormal thumb morphology	2176	FANCC	ORPHA:84
HP:0001172	Abnormal thumb morphology	2178	FANCE	ORPHA:84
HP:0001172	Abnormal thumb morphology	2188	FANCF	ORPHA:84
HP:0001172	Abnormal thumb morphology	5888	RAD51	ORPHA:84
HP:0001172	Abnormal thumb morphology	5889	RAD51C	ORPHA:84
HP:0001172	Abnormal thumb morphology	55159	RFWD3	ORPHA:84
HP:0001172	Abnormal thumb morphology	83990	BRIP1	ORPHA:84
HP:0001172	Abnormal thumb morphology	57697	FANCM	ORPHA:84
HP:0001172	Abnormal thumb morphology	79728	PALB2	ORPHA:84
HP:0001172	Abnormal thumb morphology	84464	SLX4	ORPHA:84
HP:0001172	Abnormal thumb morphology	2072	ERCC4	ORPHA:84
HP:0001172	Abnormal thumb morphology	55215	FANCI	ORPHA:84
HP:0001172	Abnormal thumb morphology	64093	SMOC1	ORPHA:1106
HP:0001172	Abnormal thumb morphology	2261	FGFR3	OMIM:620192
HP:0001172	Abnormal thumb morphology	2261	FGFR3	ORPHA:2363
HP:0001172	Abnormal thumb morphology	23111	SPART	ORPHA:101000
HP:0001172	Abnormal thumb morphology	25942	SIN3A	ORPHA:94065
HP:0001172	Abnormal thumb morphology	1193	CLIC2	ORPHA:324410
HP:0001172	Abnormal thumb morphology	860	RUNX2	ORPHA:1452
HP:0001172	Abnormal thumb morphology	57167	SALL4	ORPHA:959
HP:0001172	Abnormal thumb morphology	2263	FGFR2	ORPHA:2363
HP:0001172	Abnormal thumb morphology	2255	FGF10	ORPHA:2363
HP:0001172	Abnormal thumb morphology	64327	LMBR1	ORPHA:93321
HP:0001172	Abnormal thumb morphology	6469	SHH	ORPHA:93321
HP:0001172	Abnormal thumb morphology	90	ACVR1	ORPHA:337
HP:0001172	Abnormal thumb morphology	9935	MAFB	ORPHA:233
HP:0001172	Abnormal thumb morphology	1123	CHN1	ORPHA:233
HP:0001172	Abnormal thumb morphology	2137	EXTL3	ORPHA:508533
HP:0001172	Abnormal thumb morphology	22827	PUF60	ORPHA:508498
HP:0001172	Abnormal thumb morphology	65250	CPLANE1	OMIM:277170
HP:0001172	Abnormal thumb morphology	6608	SMO	OMIM:601707
HP:0001172	Abnormal thumb morphology	6608	SMO	ORPHA:1553
HP:0001172	Abnormal thumb morphology	4750	NEK1	OMIM:263520
HP:0001172	Abnormal thumb morphology	4750	NEK1	OMIM:252100
HP:0001172	Abnormal thumb morphology	2737	GLI3	OMIM:175700
HP:0001172	Abnormal thumb morphology	2737	GLI3	ORPHA:380
HP:0001172	Abnormal thumb morphology	2737	GLI3	OMIM:174200
HP:0001172	Abnormal thumb morphology	2737	GLI3	OMIM:146510
HP:0001172	Abnormal thumb morphology	55027	HEATR3	OMIM:620072
HP:0001172	Abnormal thumb morphology	6299	SALL1	OMIM:107480
HP:0001172	Abnormal thumb morphology	6299	SALL1	ORPHA:857
HP:0001172	Abnormal thumb morphology	55112	DYNC2I1	ORPHA:93271
HP:0001172	Abnormal thumb morphology	57560	IFT80	ORPHA:93271
HP:0001172	Abnormal thumb morphology	57539	WDR35	ORPHA:93271
HP:0001172	Abnormal thumb morphology	79659	DYNC2H1	ORPHA:93271
HP:0001172	Abnormal thumb morphology	89891	DYNC2I2	ORPHA:93271
HP:0001172	Abnormal thumb morphology	374879	ZNF699	OMIM:619488
HP:0001172	Abnormal thumb morphology	374654	KIF7	OMIM:200990
HP:0001172	Abnormal thumb morphology	8318	CDC45	OMIM:617063
HP:0001172	Abnormal thumb morphology	5728	PTEN	ORPHA:210548
HP:0001172	Abnormal thumb morphology	220296	HEPACAM	ORPHA:210548
HP:0001172	Abnormal thumb morphology	51339	DACT1	ORPHA:857
HP:0001172	Abnormal thumb morphology	57688	ZSWIM6	OMIM:603671
HP:0001172	Abnormal thumb morphology	83871	RAB34	OMIM:620718
HP:0001172	Abnormal thumb morphology	727857	BHLHA9	ORPHA:3329
HP:0001172	Abnormal thumb morphology	23133	PHF8	ORPHA:85287
HP:0001172	Abnormal thumb morphology	8481	OFD1	ORPHA:2750
HP:0001172	Abnormal thumb morphology	219844	HYLS1	OMIM:236680
HP:0001172	Abnormal thumb morphology	26123	TCTN3	ORPHA:2753
HP:0001172	Abnormal thumb morphology	26123	TCTN3	ORPHA:564
HP:0001172	Abnormal thumb morphology	2697	GJA1	ORPHA:2710
HP:0001172	Abnormal thumb morphology	3239	HOXD13	ORPHA:887
HP:0001172	Abnormal thumb morphology	7020	TFAP2A	OMIM:113620
HP:0001172	Abnormal thumb morphology	7020	TFAP2A	ORPHA:1297
HP:0001172	Abnormal thumb morphology	84314	TMEM107	ORPHA:564
HP:0001172	Abnormal thumb morphology	79867	TCTN2	ORPHA:564
HP:0001172	Abnormal thumb morphology	80776	B9D2	ORPHA:564
HP:0001172	Abnormal thumb morphology	79600	TCTN1	ORPHA:564
HP:0001172	Abnormal thumb morphology	57096	RPGRIP1	ORPHA:564
HP:0001172	Abnormal thumb morphology	79848	CSPP1	ORPHA:564
HP:0001172	Abnormal thumb morphology	80184	CEP290	ORPHA:564
HP:0001172	Abnormal thumb morphology	51259	TMEM216	ORPHA:564
HP:0001172	Abnormal thumb morphology	57545	CC2D2A	ORPHA:564
HP:0001172	Abnormal thumb morphology	79583	TMEM231	ORPHA:564
HP:0001172	Abnormal thumb morphology	91147	TMEM67	ORPHA:564
HP:0001172	Abnormal thumb morphology	79770	TXNDC15	ORPHA:564
HP:0001172	Abnormal thumb morphology	27077	B9D1	ORPHA:564
HP:0001172	Abnormal thumb morphology	23322	RPGRIP1L	ORPHA:564
HP:0001172	Abnormal thumb morphology	54903	MKS1	ORPHA:564
HP:0001172	Abnormal thumb morphology	65062	TMEM237	ORPHA:564
HP:0001172	Abnormal thumb morphology	10815	CPLX1	ORPHA:280
HP:0001172	Abnormal thumb morphology	10815	CPLX1	OMIM:194190
HP:0001172	Abnormal thumb morphology	54872	PIGG	ORPHA:280
HP:0001172	Abnormal thumb morphology	7469	NELFA	ORPHA:280
HP:0001172	Abnormal thumb morphology	1487	CTBP1	ORPHA:280
HP:0001172	Abnormal thumb morphology	1487	CTBP1	OMIM:194190
HP:0001172	Abnormal thumb morphology	3954	LETM1	ORPHA:280
HP:0001172	Abnormal thumb morphology	3954	LETM1	OMIM:194190
HP:0001172	Abnormal thumb morphology	7468	NSD2	ORPHA:280
HP:0001172	Abnormal thumb morphology	7468	NSD2	OMIM:194190
HP:0001172	Abnormal thumb morphology	2735	GLI1	OMIM:174400
HP:0001172	Abnormal thumb morphology	53834	FGFRL1	OMIM:194190
HP:0001172	Abnormal thumb morphology	9343	EFTUD2	OMIM:610536
HP:0001172	Abnormal thumb morphology	9343	EFTUD2	ORPHA:79113
HP:0001172	Abnormal thumb morphology	1802	DPH2	OMIM:620062
HP:0001172	Abnormal thumb morphology	91949	COG7	OMIM:608779
HP:0001172	Abnormal thumb morphology	91949	COG7	ORPHA:79333
HP:0001172	Abnormal thumb morphology	27238	GPKOW	ORPHA:2570
HP:0001172	Abnormal thumb morphology	23141	ANKLE2	OMIM:616681
HP:0001172	Abnormal thumb morphology	29895	MYL11	OMIM:619110
HP:0001172	Abnormal thumb morphology	5393	EXOSC9	OMIM:618065
HP:0001172	Abnormal thumb morphology	1861	TOR1A	OMIM:618947
HP:0001172	Abnormal thumb morphology	55627	SMPD4	OMIM:618622
HP:0001172	Abnormal thumb morphology	6804	STX1A	ORPHA:904
HP:0001172	Abnormal thumb morphology	7461	CLIP2	ORPHA:904
HP:0001172	Abnormal thumb morphology	84277	DNAJC30	ORPHA:904
HP:0001172	Abnormal thumb morphology	8468	FKBP6	ORPHA:904
HP:0001172	Abnormal thumb morphology	5982	RFC2	ORPHA:904
HP:0001172	Abnormal thumb morphology	2969	GTF2I	ORPHA:904
HP:0001172	Abnormal thumb morphology	3984	LIMK1	ORPHA:904
HP:0001172	Abnormal thumb morphology	9569	GTF2IRD1	ORPHA:904
HP:0001172	Abnormal thumb morphology	155382	VPS37D	ORPHA:904
HP:0001172	Abnormal thumb morphology	155368	METTL27	ORPHA:904
HP:0001172	Abnormal thumb morphology	114049	BUD23	ORPHA:904
HP:0001172	Abnormal thumb morphology	7458	EIF4H	ORPHA:904
HP:0001172	Abnormal thumb morphology	84163	GTF2IRD2	ORPHA:904
HP:0001172	Abnormal thumb morphology	26608	TBL2	ORPHA:904
HP:0001172	Abnormal thumb morphology	653361	NCF1	ORPHA:904
HP:0001172	Abnormal thumb morphology	135886	TMEM270	ORPHA:904
HP:0001172	Abnormal thumb morphology	9031	BAZ1B	ORPHA:904
HP:0001172	Abnormal thumb morphology	2006	ELN	ORPHA:904
HP:0001172	Abnormal thumb morphology	2006	ELN	ORPHA:90348
HP:0001172	Abnormal thumb morphology	5832	ALDH18A1	OMIM:616603
HP:0001172	Abnormal thumb morphology	5832	ALDH18A1	OMIM:219150
HP:0001172	Abnormal thumb morphology	5832	ALDH18A1	ORPHA:90348
HP:0001172	Abnormal thumb morphology	347734	SLC35B2	OMIM:620269
HP:0001172	Abnormal thumb morphology	23345	SYNE1	ORPHA:319332
HP:0001172	Abnormal thumb morphology	23345	SYNE1	OMIM:618484
HP:0001172	Abnormal thumb morphology	2200	FBN1	ORPHA:284979
HP:0001172	Abnormal thumb morphology	84992	PIGY	OMIM:616809
HP:0001172	Abnormal thumb morphology	1303	COL12A1	ORPHA:75840
HP:0001172	Abnormal thumb morphology	1303	COL12A1	ORPHA:536516
HP:0001172	Abnormal thumb morphology	1291	COL6A1	ORPHA:75840
HP:0001172	Abnormal thumb morphology	1292	COL6A2	ORPHA:75840
HP:0001172	Abnormal thumb morphology	1292	COL6A2	OMIM:620727
HP:0001172	Abnormal thumb morphology	1293	COL6A3	ORPHA:75840
HP:0001172	Abnormal thumb morphology	9839	ZEB2	ORPHA:261537
HP:0001172	Abnormal thumb morphology	9839	ZEB2	ORPHA:261552
HP:0001172	Abnormal thumb morphology	113189	CHST14	OMIM:601776
HP:0001172	Abnormal thumb morphology	10479	SLC9A6	OMIM:300243
HP:0001172	Abnormal thumb morphology	10479	SLC9A6	ORPHA:85278
HP:0001172	Abnormal thumb morphology	91754	NEK9	OMIM:617022
HP:0001172	Abnormal thumb morphology	5649	RELN	ORPHA:89844
HP:0001172	Abnormal thumb morphology	10300	KATNB1	ORPHA:89844
HP:0001172	Abnormal thumb morphology	54820	NDE1	ORPHA:89844
HP:0001172	Abnormal thumb morphology	6472	SHMT2	OMIM:619121
HP:0001172	Abnormal thumb morphology	58	ACTA1	ORPHA:171430
HP:0001172	Abnormal thumb morphology	4703	NEB	ORPHA:171430
HP:0001172	Abnormal thumb morphology	4703	NEB	OMIM:619334
HP:0001172	Abnormal thumb morphology	131377	KLHL40	ORPHA:171430
HP:0001172	Abnormal thumb morphology	10324	KLHL41	ORPHA:171430
HP:0001172	Abnormal thumb morphology	56203	LMOD3	ORPHA:171430
HP:0001172	Abnormal thumb morphology	26227	PHGDH	OMIM:601815
HP:0001172	Abnormal thumb morphology	26227	PHGDH	ORPHA:79351
HP:0001172	Abnormal thumb morphology	84162	BLTP1	OMIM:617822
HP:0001172	Abnormal thumb morphology	202018	TAPT1	OMIM:616897
HP:0001172	Abnormal thumb morphology	2782	GNB1	OMIM:616973
HP:0001172	Abnormal thumb morphology	2201	FBN2	OMIM:121050
HP:0001172	Abnormal thumb morphology	7140	TNNT3	OMIM:618435
HP:0001172	Abnormal thumb morphology	7140	TNNT3	ORPHA:1147
HP:0001172	Abnormal thumb morphology	7140	TNNT3	ORPHA:1146
HP:0001172	Abnormal thumb morphology	91869	RFT1	OMIM:612015
HP:0001172	Abnormal thumb morphology	2033	EP300	ORPHA:353284
HP:0001172	Abnormal thumb morphology	4621	MYH3	OMIM:618436
HP:0001172	Abnormal thumb morphology	4621	MYH3	OMIM:193700
HP:0001172	Abnormal thumb morphology	4621	MYH3	ORPHA:1147
HP:0001172	Abnormal thumb morphology	4621	MYH3	ORPHA:1146
HP:0001172	Abnormal thumb morphology	3897	L1CAM	ORPHA:306617
HP:0001172	Abnormal thumb morphology	3897	L1CAM	OMIM:303350
HP:0001172	Abnormal thumb morphology	3897	L1CAM	OMIM:307000
HP:0001172	Abnormal thumb morphology	3897	L1CAM	ORPHA:2182
HP:0001172	Abnormal thumb morphology	388015	RTL1	ORPHA:96334
HP:0001172	Abnormal thumb morphology	8788	DLK1	ORPHA:96334
HP:0001172	Abnormal thumb morphology	55384	MEG3	ORPHA:96334
HP:0001172	Abnormal thumb morphology	2067	ERCC1	OMIM:610758
HP:0001172	Abnormal thumb morphology	9179	AP4M1	OMIM:612936
HP:0001172	Abnormal thumb morphology	7169	TPM2	OMIM:108120
HP:0001172	Abnormal thumb morphology	7169	TPM2	ORPHA:1147
HP:0001172	Abnormal thumb morphology	7169	TPM2	ORPHA:1146
HP:0001172	Abnormal thumb morphology	126792	B3GALT6	ORPHA:536467
HP:0001172	Abnormal thumb morphology	50515	CHST11	OMIM:618167
HP:0001172	Abnormal thumb morphology	79868	ALG13	ORPHA:324422
HP:0001172	Abnormal thumb morphology	259232	NALCN	OMIM:616266
HP:0001172	Abnormal thumb morphology	259232	NALCN	ORPHA:1147
HP:0001172	Abnormal thumb morphology	259232	NALCN	ORPHA:1146
HP:0001172	Abnormal thumb morphology	259232	NALCN	ORPHA:562528
HP:0001172	Abnormal thumb morphology	23483	TGDS	OMIM:616145
HP:0001172	Abnormal thumb morphology	729920	CRPPA	OMIM:614643
HP:0001172	Abnormal thumb morphology	7136	TNNI2	ORPHA:1147
HP:0001172	Abnormal thumb morphology	7136	TNNI2	ORPHA:1146
HP:0001172	Abnormal thumb morphology	10273	STUB1	ORPHA:412057
HP:0001172	Abnormal thumb morphology	1387	CREBBP	ORPHA:353277
HP:0001172	Abnormal thumb morphology	4604	MYBPC1	ORPHA:1146
HP:0001172	Abnormal thumb morphology	10516	FBLN5	ORPHA:90348
HP:0001172	Abnormal thumb morphology	81857	MED25	ORPHA:464738
HP:0001172	Abnormal thumb morphology	57211	ADGRG6	OMIM:616503
HP:0001172	Abnormal thumb morphology	9939	RBM8A	ORPHA:3320
HP:0001172	Abnormal thumb morphology	9939	RBM8A	OMIM:274000
HP:0001172	Abnormal thumb morphology	29940	DSE	OMIM:615539
HP:0001172	Abnormal thumb morphology	3756	KCNH1	OMIM:611816
HP:0001172	Abnormal thumb morphology	23299	BICD2	OMIM:618291
HP:0001172	Abnormal thumb morphology	10195	ALG3	OMIM:601110
HP:0001172	Abnormal thumb morphology	7703	PCGF2	OMIM:618371
HP:0001172	Abnormal thumb morphology	10943	MSL3	OMIM:301032
HP:0001172	Abnormal thumb morphology	3977	LIFR	OMIM:601559
HP:0001172	Abnormal thumb morphology	9427	ECEL1	OMIM:615065
HP:0001172	Abnormal thumb morphology	6999	TDO2	OMIM:600627
HP:0001172	Abnormal thumb morphology	84896	ATAD1	OMIM:618011
HP:0001172	Abnormal thumb morphology	2036	EPB41L1	OMIM:614257
HP:0001172	Abnormal thumb morphology	27145	FILIP1	OMIM:620775
HP:0001172	Abnormal thumb morphology	79693	YRDC	ORPHA:2065
HP:0001172	Abnormal thumb morphology	51002	TPRKB	ORPHA:2065
HP:0001172	Abnormal thumb morphology	84942	WDR73	ORPHA:2065
HP:0001172	Abnormal thumb morphology	55644	OSGEP	ORPHA:2065
HP:0001172	Abnormal thumb morphology	57122	NUP107	ORPHA:2065
HP:0001172	Abnormal thumb morphology	10785	WDR4	ORPHA:2065
HP:0001172	Abnormal thumb morphology	55746	NUP133	ORPHA:2065
HP:0001172	Abnormal thumb morphology	84520	GON7	ORPHA:2065
HP:0001172	Abnormal thumb morphology	112858	TP53RK	ORPHA:2065
HP:0001172	Abnormal thumb morphology	8270	LAGE3	ORPHA:2065
HP:0001172	Abnormal thumb morphology	9244	CRLF1	OMIM:272430
HP:0001172	Abnormal thumb morphology	26834	RNU4-2	OMIM:620851
HP:0001172	Abnormal thumb morphology	7291	TWIST1	ORPHA:794
HP:0001172	Abnormal thumb morphology	9488	PIGB	OMIM:618580
HP:0001172	Abnormal thumb morphology	1749	DLX5	OMIM:183600
HP:0001172	Abnormal thumb morphology	4488	MSX2	OMIM:604757
HP:0001172	Abnormal thumb morphology	9469	CHST3	OMIM:245600
HP:0001172	Abnormal thumb morphology	26229	B3GAT3	OMIM:245600
HP:0001172	Abnormal thumb morphology	79796	ALG9	ORPHA:79328
HP:0001172	Abnormal thumb morphology	54928	BPNT2	OMIM:614078
HP:0001172	Abnormal thumb morphology	22858	CILK1	OMIM:612651
HP:0001172	Abnormal thumb morphology	5281	PIGF	OMIM:619356
HP:0001172	Abnormal thumb morphology	652	BMP4	OMIM:607932
HP:0001172	Abnormal thumb morphology	3981	LIG4	ORPHA:235
HP:0001172	Abnormal thumb morphology	54888	NSUN2	ORPHA:235
HP:0001172	Abnormal thumb morphology	5980	REV3L	ORPHA:570
HP:0001172	Abnormal thumb morphology	23129	PLXND1	ORPHA:570
HP:0001172	Abnormal thumb morphology	9401	RECQL4	ORPHA:1225
HP:0001172	Abnormal thumb morphology	5925	RB1	ORPHA:1587
HP:0001172	Abnormal thumb morphology	2260	FGFR1	ORPHA:93258
HP:0001172	Abnormal thumb morphology	157570	ESCO2	ORPHA:3103
HP:0001172	Abnormal thumb morphology	157570	ESCO2	OMIM:216100
HP:0001172	Abnormal thumb morphology	80144	FRAS1	OMIM:219000
HP:0001172	Abnormal thumb morphology	8626	TP63	ORPHA:1896
HP:0001172	Abnormal thumb morphology	55012	PPP2R3C	OMIM:618419
HP:0001172	Abnormal thumb morphology	5053	PAH	ORPHA:2209
HP:0001172	Abnormal thumb morphology	55280	CWF19L1	ORPHA:453521
HP:0001172	Abnormal thumb morphology	23476	BRD4	ORPHA:199
HP:0001172	Abnormal thumb morphology	9126	SMC3	ORPHA:199
HP:0001172	Abnormal thumb morphology	9126	SMC3	OMIM:610759
HP:0001172	Abnormal thumb morphology	8243	SMC1A	ORPHA:199
HP:0001172	Abnormal thumb morphology	8243	SMC1A	OMIM:300590
HP:0001172	Abnormal thumb morphology	6878	TAF6	ORPHA:199
HP:0001172	Abnormal thumb morphology	25836	NIPBL	ORPHA:199
HP:0001172	Abnormal thumb morphology	25836	NIPBL	OMIM:122470
HP:0001172	Abnormal thumb morphology	55869	HDAC8	ORPHA:199
HP:0001172	Abnormal thumb morphology	55869	HDAC8	OMIM:300882
HP:0001172	Abnormal thumb morphology	5885	RAD21	ORPHA:199
HP:0001172	Abnormal thumb morphology	9361	LONP1	OMIM:600373
HP:0001172	Abnormal thumb morphology	58499	ZNF462	ORPHA:502430
HP:0001172	Abnormal thumb morphology	58499	ZNF462	OMIM:618619
HP:0001172	Abnormal thumb morphology	579	NKX3-2	OMIM:613330
HP:0001172	Abnormal thumb morphology	145173	B3GLCT	OMIM:261540
HP:0001172	Abnormal thumb morphology	998	CDC42	ORPHA:487796
HP:0001172	Abnormal thumb morphology	998	CDC42	OMIM:616737
HP:0001172	Abnormal thumb morphology	80232	WDR26	OMIM:617616
HP:0001172	Abnormal thumb morphology	22800	RRAS2	OMIM:618624
HP:0001172	Abnormal thumb morphology	90459	ERI1	OMIM:620663
HP:0001172	Abnormal thumb morphology	7547	ZIC3	OMIM:314390
HP:0001172	Abnormal thumb morphology	8314	BAP1	OMIM:619762
HP:0001172	Abnormal thumb morphology	29123	ANKRD11	ORPHA:261250
HP:0001172	Abnormal thumb morphology	118924	FRA10AC1	OMIM:620113
HP:0001172	Abnormal thumb morphology	51651	PTRH2	OMIM:616263
HP:0001172	Abnormal thumb morphology	51651	PTRH2	ORPHA:456312
HP:0001172	Abnormal thumb morphology	55906	ZC4H2	OMIM:314580
HP:0001172	Abnormal thumb morphology	79087	ALG12	ORPHA:79324
HP:0001172	Abnormal thumb morphology	10664	CTCF	OMIM:615502
HP:0001172	Abnormal thumb morphology	9419	CRIPT	OMIM:615789
HP:0001172	Abnormal thumb morphology	4247	MGAT2	OMIM:212066
HP:0001172	Abnormal thumb morphology	1889	ECE1	OMIM:613870
HP:0001172	Abnormal thumb morphology	10084	PQBP1	OMIM:309500
HP:0001172	Abnormal thumb morphology	4841	NONO	OMIM:300967
HP:0001172	Abnormal thumb morphology	2778	GNAS	ORPHA:79443
HP:0001172	Abnormal thumb morphology	2778	GNAS	ORPHA:79444
HP:0001172	Abnormal thumb morphology	5293	PIK3CD	ORPHA:221139
HP:0001172	Abnormal thumb morphology	90417	KNSTRN	ORPHA:221139
HP:0001172	Abnormal thumb morphology	5727	PTCH1	OMIM:109400
HP:0001172	Abnormal thumb morphology	9898	UBAP2L	OMIM:620494
HP:0001172	Abnormal thumb morphology	23019	CNOT1	ORPHA:556955
HP:0001172	Abnormal thumb morphology	7204	TRIO	ORPHA:476126
HP:0001172	Abnormal thumb morphology	6910	TBX5	ORPHA:392
HP:0001172	Abnormal thumb morphology	6910	TBX5	OMIM:142900
HP:0001172	Abnormal thumb morphology	6651	SON	ORPHA:500150
HP:0001172	Abnormal thumb morphology	340419	RSPO2	OMIM:618022
HP:0001172	Abnormal thumb morphology	6154	RPL26	OMIM:614900
HP:0001172	Abnormal thumb morphology	6154	RPL26	ORPHA:124
HP:0001172	Abnormal thumb morphology	8452	CUL3	OMIM:619239
HP:0001172	Abnormal thumb morphology	5718	PSMD12	OMIM:617516
HP:0001172	Abnormal thumb morphology	6223	RPS19	OMIM:105650
HP:0001172	Abnormal thumb morphology	6223	RPS19	ORPHA:124
HP:0001172	Abnormal thumb morphology	9896	FIG4	OMIM:216340
HP:0001172	Abnormal thumb morphology	9896	FIG4	ORPHA:3472
HP:0001172	Abnormal thumb morphology	6138	RPL15	ORPHA:124
HP:0001172	Abnormal thumb morphology	6224	RPS20	ORPHA:124
HP:0001172	Abnormal thumb morphology	6165	RPL35A	ORPHA:124
HP:0001172	Abnormal thumb morphology	6132	RPL8	ORPHA:124
HP:0001172	Abnormal thumb morphology	6232	RPS27	ORPHA:124
HP:0001172	Abnormal thumb morphology	6160	RPL31	ORPHA:124
HP:0001172	Abnormal thumb morphology	6201	RPS7	ORPHA:124
HP:0001172	Abnormal thumb morphology	6155	RPL27	ORPHA:124
HP:0001172	Abnormal thumb morphology	6234	RPS28	ORPHA:124
HP:0001172	Abnormal thumb morphology	6135	RPL11	ORPHA:124
HP:0001172	Abnormal thumb morphology	6229	RPS24	ORPHA:124
HP:0001172	Abnormal thumb morphology	6125	RPL5	ORPHA:124
HP:0001172	Abnormal thumb morphology	6204	RPS10	ORPHA:124
HP:0001172	Abnormal thumb morphology	2623	GATA1	ORPHA:124
HP:0001172	Abnormal thumb morphology	6133	RPL9	ORPHA:124
HP:0001172	Abnormal thumb morphology	6231	RPS26	ORPHA:124
HP:0001172	Abnormal thumb morphology	11224	RPL35	ORPHA:124
HP:0001172	Abnormal thumb morphology	6218	RPS17	ORPHA:124
HP:0001172	Abnormal thumb morphology	6210	RPS15A	ORPHA:124
HP:0001172	Abnormal thumb morphology	90121	TSR2	ORPHA:124
HP:0001172	Abnormal thumb morphology	6141	RPL18	ORPHA:124
HP:0001172	Abnormal thumb morphology	6235	RPS29	ORPHA:124
HP:0001172	Abnormal thumb morphology	51816	ADA2	ORPHA:124
HP:0001172	Abnormal thumb morphology	55697	VAC14	ORPHA:3472
HP:0001172	Abnormal thumb morphology	54101	RIPK4	OMIM:263650
HP:0001172	Abnormal thumb morphology	54101	RIPK4	ORPHA:1234
HP:0001172	Abnormal thumb morphology	29980	DONSON	OMIM:251230
HP:0001172	Abnormal thumb morphology	1280	COL2A1	OMIM:271700
HP:0001172	Abnormal thumb morphology	100151683	RNU4ATAC	OMIM:210710
HP:0001172	Abnormal thumb morphology	23028	KDM1A	OMIM:616728
HP:0001172	Abnormal thumb morphology	23028	KDM1A	ORPHA:477993
HP:0001172	Abnormal thumb morphology	29998	BICRA	OMIM:619325
HP:0001172	Abnormal thumb morphology	1723	DHODH	OMIM:263750
HP:0001172	Abnormal thumb morphology	1836	SLC26A2	ORPHA:93307
HP:0001172	Abnormal thumb morphology	10847	SRCAP	ORPHA:2044
HP:0001172	Abnormal thumb morphology	526	ATP6V1B2	ORPHA:79499
HP:0001172	Abnormal thumb morphology	4038	LRP4	ORPHA:3258
HP:0001172	Abnormal thumb morphology	324	APC	ORPHA:3258
HP:0001172	Abnormal thumb morphology	3549	IHH	ORPHA:93388
HP:0001172	Abnormal thumb morphology	176	ACAN	ORPHA:435804
HP:0001172	Abnormal thumb morphology	176	ACAN	OMIM:165800
HP:0001172	Abnormal thumb morphology	54880	BCOR	ORPHA:2712
HP:0001172	Abnormal thumb morphology	3209	HOXA13	ORPHA:2438
HP:0001172	Abnormal thumb morphology	3209	HOXA13	OMIM:176305
HP:0001172	Abnormal thumb morphology	1717	DHCR7	OMIM:270400
HP:0001172	Abnormal thumb morphology	4613	MYCN	OMIM:164280
HP:0001172	Abnormal thumb morphology	4613	MYCN	ORPHA:391641
HP:0001172	Abnormal thumb morphology	55636	CHD7	OMIM:214800
HP:0001172	Abnormal thumb morphology	2316	FLNA	ORPHA:90650
HP:0001172	Abnormal thumb morphology	2316	FLNA	ORPHA:90652
HP:0001172	Abnormal thumb morphology	2316	FLNA	OMIM:304120
HP:0001172	Abnormal thumb morphology	91461	PKDCC	OMIM:618821
HP:0001172	Abnormal thumb morphology	80036	TRPM3	OMIM:620224
HP:0001172	Abnormal thumb morphology	7750	ZMYM2	OMIM:619522
HP:0001172	Abnormal thumb morphology	407975	MIR17HG	ORPHA:391646
HP:0001172	Abnormal thumb morphology	4256	MGP	OMIM:245150
HP:0001172	Abnormal thumb morphology	84823	LMNB2	OMIM:616540
HP:0001172	Abnormal thumb morphology	170691	ADAMTS17	ORPHA:3449
HP:0001172	Abnormal thumb morphology	4053	LTBP2	ORPHA:3449
HP:0001172	Abnormal thumb morphology	81794	ADAMTS10	ORPHA:3449
HP:0001172	Abnormal thumb morphology	374969	SVBP	OMIM:618569
HP:0001172	Abnormal thumb morphology	26100	WIPI2	OMIM:618453
HP:0001172	Abnormal thumb morphology	9775	EIF4A3	OMIM:268305
HP:0001172	Abnormal thumb morphology	2703	GJA8	OMIM:612474
HP:0001172	Abnormal thumb morphology	2702	GJA5	OMIM:612474
HP:0001172	Abnormal thumb morphology	22856	CHSY1	ORPHA:363417
HP:0001172	Abnormal thumb morphology	71	ACTG1	ORPHA:2995
HP:0001172	Abnormal thumb morphology	60	ACTB	ORPHA:2995
HP:0001172	Abnormal thumb morphology	8260	NAA10	ORPHA:568
HP:0001172	Abnormal thumb morphology	10992	SF3B2	OMIM:164210
HP:0001172	Abnormal thumb morphology	27152	INTU	OMIM:617926
HP:0001172	Abnormal thumb morphology	2535	FZD2	OMIM:164745
HP:0001172	Abnormal thumb morphology	2535	FZD2	ORPHA:93328
HP:0001172	Abnormal thumb morphology	57020	VPS35L	OMIM:619135
HP:0001172	Abnormal thumb morphology	6091	ROBO1	OMIM:620305
HP:0001172	Abnormal thumb morphology	6662	SOX9	OMIM:114290
HP:0001172	Abnormal thumb morphology	5116	PCNT	OMIM:210720
HP:0001172	Abnormal thumb morphology	26040	SETBP1	OMIM:269150
HP:0001172	Abnormal thumb morphology	26040	SETBP1	ORPHA:798
HP:0001172	Abnormal thumb morphology	3911	LAMA5	OMIM:620076
HP:0001172	Abnormal thumb morphology	124583	CANT1	OMIM:251450
HP:0001172	Abnormal thumb morphology	23394	ADNP	ORPHA:404448
HP:0001172	Abnormal thumb morphology	6477	SIAH1	OMIM:619314
HP:0001172	Abnormal thumb morphology	10059	DNM1L	OMIM:614388
HP:0001172	Abnormal thumb morphology	6885	MAP3K7	OMIM:617137
HP:0001172	Abnormal thumb morphology	6885	MAP3K7	ORPHA:1826
HP:0001172	Abnormal thumb morphology	23314	SATB2	ORPHA:251028
HP:0001172	Abnormal thumb morphology	23314	SATB2	ORPHA:251019
HP:0001172	Abnormal thumb morphology	23314	SATB2	ORPHA:576283
HP:0001172	Abnormal thumb morphology	9241	NOG	OMIM:184460
HP:0001172	Abnormal thumb morphology	9241	NOG	ORPHA:3237
HP:0001172	Abnormal thumb morphology	650	BMP2	ORPHA:261295
HP:0001172	Abnormal thumb morphology	3020	H3-3A	OMIM:619720
HP:0001172	Abnormal thumb morphology	3021	H3-3B	OMIM:619721
HP:0001172	Abnormal thumb morphology	4920	ROR2	OMIM:113000
HP:0001172	Abnormal thumb morphology	4920	ROR2	ORPHA:1507
HP:0001172	Abnormal thumb morphology	4920	ROR2	OMIM:268310
HP:0001172	Abnormal thumb morphology	1855	DVL1	OMIM:616331
HP:0001172	Abnormal thumb morphology	1855	DVL1	OMIM:180700
HP:0001172	Abnormal thumb morphology	473	RERE	OMIM:616975
HP:0001172	Abnormal thumb morphology	8239	USP9X	OMIM:300919
HP:0001172	Abnormal thumb morphology	3248	HPGD	ORPHA:217059
HP:0001172	Abnormal thumb morphology	2239	GPC4	OMIM:301026
HP:0001172	Abnormal thumb morphology	2239	GPC4	ORPHA:2662
HP:0001172	Abnormal thumb morphology	2239	GPC4	ORPHA:373
HP:0001172	Abnormal thumb morphology	2239	GPC4	OMIM:312870
HP:0001172	Abnormal thumb morphology	51132	RLIM	OMIM:300978
HP:0001172	Abnormal thumb morphology	64359	NXN	OMIM:618529
HP:0001172	Abnormal thumb morphology	64359	NXN	ORPHA:1507
HP:0001172	Abnormal thumb morphology	92579	G6PC3	OMIM:612541
HP:0001172	Abnormal thumb morphology	64131	XYLT1	OMIM:615777
HP:0001172	Abnormal thumb morphology	64131	XYLT1	ORPHA:370930
HP:0001172	Abnormal thumb morphology	29920	PYCR2	ORPHA:481152
HP:0001172	Abnormal thumb morphology	2626	GATA4	ORPHA:251071
HP:0001172	Abnormal thumb morphology	8726	EED	OMIM:617561
HP:0001172	Abnormal thumb morphology	2186	BPTF	ORPHA:529962
HP:0001172	Abnormal thumb morphology	4212	MEIS2	OMIM:600987
HP:0001172	Abnormal thumb morphology	1954	MEGF8	OMIM:614976
HP:0001172	Abnormal thumb morphology	1954	MEGF8	ORPHA:65759
HP:0001172	Abnormal thumb morphology	51715	RAB23	ORPHA:65759
HP:0001172	Abnormal thumb morphology	657	BMPR1A	ORPHA:79076
HP:0001172	Abnormal thumb morphology	2254	FGF9	ORPHA:3237
HP:0001172	Abnormal thumb morphology	2254	FGF9	OMIM:612961
HP:0001172	Abnormal thumb morphology	23126	POGZ	OMIM:616364
HP:0001172	Abnormal thumb morphology	51633	OTUD6B	OMIM:617452
HP:0001172	Abnormal thumb morphology	51633	OTUD6B	ORPHA:505237
HP:0001172	Abnormal thumb morphology	5593	PRKG2	OMIM:619638
HP:0001172	Abnormal thumb morphology	79753	SNIP1	OMIM:614501
HP:0001172	Abnormal thumb morphology	2317	FLNB	ORPHA:503
HP:0001172	Abnormal thumb morphology	285362	SUMF1	OMIM:272200
HP:0001172	Abnormal thumb morphology	285362	SUMF1	ORPHA:585
HP:0001172	Abnormal thumb morphology	79759	ZNF668	OMIM:620194
HP:0001172	Abnormal thumb morphology	10236	HNRNPR	OMIM:620073
HP:0001172	Abnormal thumb morphology	284252	KCTD1	OMIM:181270
HP:0001172	Abnormal thumb morphology	1857	DVL3	OMIM:616894
HP:0001172	Abnormal thumb morphology	56098	PCDHGC4	OMIM:619880
HP:0001172	Abnormal thumb morphology	2719	GPC3	ORPHA:373
HP:0001172	Abnormal thumb morphology	2719	GPC3	OMIM:312870
HP:0001172	Abnormal thumb morphology	4123	MAN2C1	OMIM:619775
HP:0001172	Abnormal thumb morphology	60529	ALX4	ORPHA:60015
HP:0001172	Abnormal thumb morphology	79989	IFT56	OMIM:619534
HP:0001172	Abnormal thumb morphology	2146	EZH2	OMIM:277590
HP:0001172	Abnormal thumb morphology	2146	EZH2	ORPHA:3447
HP:0001172	Abnormal thumb morphology	7474	WNT5A	OMIM:180700
HP:0001172	Abnormal thumb morphology	64324	NSD1	ORPHA:3447
HP:0001172	Abnormal thumb morphology	23512	SUZ12	ORPHA:3447
HP:0001172	Abnormal thumb morphology	23404	EXOSC2	OMIM:617763
HP:0001172	Abnormal thumb morphology	5587	PRKD1	OMIM:617364
HP:0001172	Abnormal thumb morphology	3636	INPPL1	ORPHA:2746
HP:0001172	Abnormal thumb morphology	55690	PACS1	ORPHA:329224
HP:0001172	Abnormal thumb morphology	22907	DHX30	OMIM:617804
HP:0001172	Abnormal thumb morphology	865	CBFB	OMIM:620099
HP:0001172	Abnormal thumb morphology	5745	PTH1R	OMIM:600002
HP:0001172	Abnormal thumb morphology	5965	RECQL	OMIM:620370
HP:0001172	Abnormal thumb morphology	128	ADH5	OMIM:619151
HP:0001172	Abnormal thumb morphology	57465	TBC1D24	OMIM:220500
HP:0001172	Abnormal thumb morphology	3782	KCNN3	OMIM:618658
HP:0001172	Abnormal thumb morphology	4883	NPR3	OMIM:619543
HP:0001172	Abnormal thumb morphology	23522	KAT6B	OMIM:603736
HP:0001178	Ulnar claw	54332	GDAP1	OMIM:607706
HP:0001178	Ulnar claw	54332	GDAP1	OMIM:214400
HP:0001178	Ulnar claw	54332	GDAP1	OMIM:608340
HP:0001178	Ulnar claw	5376	PMP22	OMIM:118220
HP:0001178	Ulnar claw	5376	PMP22	OMIM:145900
HP:0001178	Ulnar claw	4747	NEFL	OMIM:607684
HP:0001178	Ulnar claw	3315	HSPB1	OMIM:606595
HP:0001178	Ulnar claw	4359	MPZ	OMIM:118200
HP:0001178	Ulnar claw	4359	MPZ	OMIM:145900
HP:0001178	Ulnar claw	1959	EGR2	OMIM:145900
HP:0001178	Ulnar claw	57716	PRX	OMIM:145900
HP:0001178	Ulnar claw	4358	MPV17	OMIM:618400
HP:0001178	Ulnar claw	81846	SBF2	OMIM:604563
HP:0009771	Osteolytic defects of the phalanges of the hand	1281	COL3A1	OMIM:130050
HP:0009771	Osteolytic defects of the phalanges of the hand	64135	IFIH1	OMIM:182250
HP:0009771	Osteolytic defects of the phalanges of the hand	4000	LMNA	ORPHA:280365
HP:0009771	Osteolytic defects of the phalanges of the hand	4000	LMNA	ORPHA:79474
HP:0009771	Osteolytic defects of the phalanges of the hand	65125	WNK1	OMIM:201300
HP:0009771	Osteolytic defects of the phalanges of the hand	54463	RETREG1	OMIM:201300
HP:0009771	Osteolytic defects of the phalanges of the hand	54463	RETREG1	OMIM:613115
HP:0009771	Osteolytic defects of the phalanges of the hand	6335	SCN9A	OMIM:201300
HP:0009771	Osteolytic defects of the phalanges of the hand	547	KIF1A	OMIM:201300
HP:0009771	Osteolytic defects of the phalanges of the hand	1075	CTSC	OMIM:245010
HP:0009771	Osteolytic defects of the phalanges of the hand	10651	MTX2	OMIM:619127
HP:0009771	Osteolytic defects of the phalanges of the hand	4921	DDR2	OMIM:618175
HP:0009771	Osteolytic defects of the phalanges of the hand	23586	RIGI	OMIM:616298
HP:0009771	Osteolytic defects of the phalanges of the hand	25923	ATL3	OMIM:615632
HP:0009771	Osteolytic defects of the phalanges of the hand	427	ASAH1	OMIM:228000
HP:0009771	Osteolytic defects of the phalanges of the hand	2316	FLNA	OMIM:309350
HP:0009771	Osteolytic defects of the phalanges of the hand	2316	FLNA	ORPHA:2484
HP:0009771	Osteolytic defects of the phalanges of the hand	4853	NOTCH2	OMIM:102500
HP:0009771	Osteolytic defects of the phalanges of the hand	3248	HPGD	OMIM:259100
HP:0009771	Osteolytic defects of the phalanges of the hand	1513	CTSK	ORPHA:763
HP:0009771	Osteolytic defects of the phalanges of the hand	1513	CTSK	OMIM:265800
HP:0009771	Osteolytic defects of the phalanges of the hand	10269	ZMPSTE24	ORPHA:740
HP:0009771	Osteolytic defects of the phalanges of the hand	10269	ZMPSTE24	OMIM:608612
HP:0009771	Osteolytic defects of the phalanges of the hand	10269	ZMPSTE24	OMIM:275210
HP:0009771	Osteolytic defects of the phalanges of the hand	10269	ZMPSTE24	ORPHA:90154
HP:0009771	Osteolytic defects of the phalanges of the hand	8815	BANF1	OMIM:614008
HP:0009771	Osteolytic defects of the phalanges of the hand	5159	PDGFRB	OMIM:601812
HP:0004331	Decreased skull ossification	3930	LBR	OMIM:215140
HP:0004331	Decreased skull ossification	3930	LBR	ORPHA:1426
HP:0004331	Decreased skull ossification	9321	TRIP11	OMIM:200600
HP:0004331	Decreased skull ossification	6905	TBCE	OMIM:244460
HP:0004331	Decreased skull ossification	6905	TBCE	ORPHA:93324
HP:0004331	Decreased skull ossification	10484	SEC23A	ORPHA:50814
HP:0004331	Decreased skull ossification	4000	LMNA	ORPHA:1662
HP:0004331	Decreased skull ossification	10269	ZMPSTE24	ORPHA:1662
HP:0004331	Decreased skull ossification	2132	EXT2	ORPHA:52022
HP:0004331	Decreased skull ossification	60529	ALX4	ORPHA:52022
HP:0004331	Decreased skull ossification	51317	PHF21A	ORPHA:52022
HP:0004331	Decreased skull ossification	9896	FIG4	OMIM:216340
HP:0004331	Decreased skull ossification	9896	FIG4	ORPHA:3472
HP:0004331	Decreased skull ossification	55697	VAC14	ORPHA:3472
HP:0004331	Decreased skull ossification	10013	HDAC6	OMIM:300863
HP:0004331	Decreased skull ossification	79796	ALG9	OMIM:263210
HP:0004331	Decreased skull ossification	202018	TAPT1	OMIM:616897
HP:0004331	Decreased skull ossification	4352	MPL	ORPHA:3319
HP:0004331	Decreased skull ossification	7066	THPO	ORPHA:3319
HP:0004331	Decreased skull ossification	860	RUNX2	ORPHA:1452
HP:0004331	Decreased skull ossification	84168	ANTXR1	ORPHA:2067
HP:0004331	Decreased skull ossification	4853	NOTCH2	ORPHA:955
HP:0004331	Decreased skull ossification	60386	SLC25A19	ORPHA:99742
HP:0004331	Decreased skull ossification	63901	FAM111A	ORPHA:93325
HP:0004331	Decreased skull ossification	63901	FAM111A	OMIM:602361
HP:0004331	Decreased skull ossification	29957	SLC25A24	ORPHA:2963
HP:0004331	Decreased skull ossification	168667	BMPER	OMIM:608022
HP:0004331	Decreased skull ossification	64175	P3H1	OMIM:610915
HP:0004331	Decreased skull ossification	1280	COL2A1	OMIM:151210
HP:0004331	Decreased skull ossification	249	ALPL	OMIM:241500
HP:0004331	Decreased skull ossification	2263	FGFR2	OMIM:614592
HP:0004331	Decreased skull ossification	2263	FGFR2	ORPHA:313855
HP:0004331	Decreased skull ossification	5530	PPP3CA	OMIM:618265
HP:0004331	Decreased skull ossification	112752	IFT43	OMIM:617866
HP:0004331	Decreased skull ossification	10491	CRTAP	OMIM:610682
HP:0004331	Decreased skull ossification	27152	INTU	OMIM:617925
HP:0004331	Decreased skull ossification	90993	CREB3L1	OMIM:616229
HP:0004331	Decreased skull ossification	79770	TXNDC15	OMIM:619879
HP:0004331	Decreased skull ossification	7476	WNT7A	OMIM:276820
HP:0004331	Decreased skull ossification	5479	PPIB	OMIM:259440
HP:0004331	Decreased skull ossification	871	SERPINH1	OMIM:613848
HP:0004331	Decreased skull ossification	1277	COL1A1	OMIM:259420
HP:0004331	Decreased skull ossification	1278	COL1A2	OMIM:259420
HP:0004331	Decreased skull ossification	3911	LAMA5	OMIM:620076
HP:0004330	Increased skull ossification	6448	SGSH	OMIM:252900
HP:0004330	Increased skull ossification	138050	HGSNAT	OMIM:252930
HP:0004330	Increased skull ossification	4669	NAGLU	OMIM:252920
HP:0004330	Increased skull ossification	55733	HHAT	ORPHA:1422
HP:0004330	Increased skull ossification	5934	RBL2	OMIM:619690
HP:0004330	Increased skull ossification	1436	CSF1R	OMIM:618476
HP:0004330	Increased skull ossification	28962	OSTM1	ORPHA:85179
HP:0004330	Increased skull ossification	7415	VCP	ORPHA:329475
HP:0004329	Abnormal posterior eye segment morphology	85300	ATCAY	OMIM:601238
HP:0004329	Abnormal posterior eye segment morphology	85300	ATCAY	ORPHA:94122
HP:0004329	Abnormal posterior eye segment morphology	611	OPN1SW	ORPHA:88629
HP:0004329	Abnormal posterior eye segment morphology	112802	KRT71	ORPHA:170
HP:0004329	Abnormal posterior eye segment morphology	121391	KRT74	ORPHA:170
HP:0004329	Abnormal posterior eye segment morphology	200879	LIPH	ORPHA:170
HP:0004329	Abnormal posterior eye segment morphology	10161	LPAR6	ORPHA:170
HP:0004329	Abnormal posterior eye segment morphology	147183	KRT25	ORPHA:170
HP:0004329	Abnormal posterior eye segment morphology	7084	TK2	ORPHA:254886
HP:0004329	Abnormal posterior eye segment morphology	5428	POLG	ORPHA:254886
HP:0004329	Abnormal posterior eye segment morphology	79955	PDZD7	OMIM:618003
HP:0004329	Abnormal posterior eye segment morphology	5649	RELN	ORPHA:89844
HP:0004329	Abnormal posterior eye segment morphology	10300	KATNB1	ORPHA:89844
HP:0004329	Abnormal posterior eye segment morphology	54820	NDE1	ORPHA:89844
HP:0004329	Abnormal posterior eye segment morphology	65250	CPLANE1	OMIM:614615
HP:0004329	Abnormal posterior eye segment morphology	2067	ERCC1	OMIM:610758
HP:0004329	Abnormal posterior eye segment morphology	760	CA2	ORPHA:2785
HP:0004329	Abnormal posterior eye segment morphology	1497	CTNS	OMIM:219750
HP:0004329	Abnormal posterior eye segment morphology	22827	PUF60	ORPHA:508498
HP:0004329	Abnormal posterior eye segment morphology	22827	PUF60	ORPHA:508488
HP:0004329	Abnormal posterior eye segment morphology	4123	MAN2C1	OMIM:619775
HP:0004329	Abnormal posterior eye segment morphology	9158	FIBP	ORPHA:500095
HP:0004329	Abnormal posterior eye segment morphology	9158	FIBP	OMIM:617107
HP:0004329	Abnormal posterior eye segment morphology	145173	B3GLCT	OMIM:261540
HP:0004329	Abnormal posterior eye segment morphology	26005	C2CD3	ORPHA:434179
HP:0004329	Abnormal posterior eye segment morphology	26005	C2CD3	OMIM:615948
HP:0004329	Abnormal posterior eye segment morphology	9786	KIAA0586	OMIM:616546
HP:0004329	Abnormal posterior eye segment morphology	9487	PIGL	OMIM:280000
HP:0004329	Abnormal posterior eye segment morphology	9487	PIGL	ORPHA:3474
HP:0004329	Abnormal posterior eye segment morphology	8573	CASK	OMIM:300749
HP:0004329	Abnormal posterior eye segment morphology	80184	CEP290	OMIM:610188
HP:0004329	Abnormal posterior eye segment morphology	2248	FGF3	ORPHA:2791
HP:0004329	Abnormal posterior eye segment morphology	3166	HMX1	OMIM:612109
HP:0004329	Abnormal posterior eye segment morphology	57167	SALL4	OMIM:607323
HP:0004329	Abnormal posterior eye segment morphology	22930	RAB3GAP1	ORPHA:2510
HP:0004329	Abnormal posterior eye segment morphology	25782	RAB3GAP2	ORPHA:2510
HP:0004329	Abnormal posterior eye segment morphology	22931	RAB18	ORPHA:2510
HP:0004329	Abnormal posterior eye segment morphology	128637	TBC1D20	ORPHA:2510
HP:0004329	Abnormal posterior eye segment morphology	5076	PAX2	OMIM:120330
HP:0004329	Abnormal posterior eye segment morphology	5076	PAX2	ORPHA:1475
HP:0004329	Abnormal posterior eye segment morphology	9839	ZEB2	ORPHA:261537
HP:0004329	Abnormal posterior eye segment morphology	9839	ZEB2	ORPHA:261552
HP:0004329	Abnormal posterior eye segment morphology	7020	TFAP2A	OMIM:113620
HP:0004329	Abnormal posterior eye segment morphology	26173	INTS1	OMIM:618571
HP:0004329	Abnormal posterior eye segment morphology	54806	AHI1	ORPHA:220493
HP:0004329	Abnormal posterior eye segment morphology	56623	INPP5E	ORPHA:220493
HP:0004329	Abnormal posterior eye segment morphology	153241	CEP120	ORPHA:220493
HP:0004329	Abnormal posterior eye segment morphology	54903	MKS1	ORPHA:220493
HP:0004329	Abnormal posterior eye segment morphology	95681	CEP41	ORPHA:220493
HP:0004329	Abnormal posterior eye segment morphology	55636	CHD7	OMIM:214800
HP:0004329	Abnormal posterior eye segment morphology	5908	RAP1B	OMIM:620654
HP:0004329	Abnormal posterior eye segment morphology	7855	FZD5	OMIM:620731
HP:0004329	Abnormal posterior eye segment morphology	6297	SALL2	OMIM:216820
HP:0004329	Abnormal posterior eye segment morphology	8085	KMT2D	OMIM:147920
HP:0004329	Abnormal posterior eye segment morphology	7403	KDM6A	OMIM:147920
HP:0004329	Abnormal posterior eye segment morphology	3767	KCNJ11	ORPHA:552
HP:0004329	Abnormal posterior eye segment morphology	3767	KCNJ11	ORPHA:99885
HP:0004329	Abnormal posterior eye segment morphology	8462	KLF11	ORPHA:552
HP:0004329	Abnormal posterior eye segment morphology	2645	GCK	ORPHA:552
HP:0004329	Abnormal posterior eye segment morphology	2645	GCK	ORPHA:99885
HP:0004329	Abnormal posterior eye segment morphology	26060	APPL1	ORPHA:552
HP:0004329	Abnormal posterior eye segment morphology	640	BLK	ORPHA:552
HP:0004329	Abnormal posterior eye segment morphology	640	BLK	ORPHA:536
HP:0004329	Abnormal posterior eye segment morphology	1056	CEL	ORPHA:552
HP:0004329	Abnormal posterior eye segment morphology	4760	NEUROD1	ORPHA:552
HP:0004329	Abnormal posterior eye segment morphology	3651	PDX1	ORPHA:552
HP:0004329	Abnormal posterior eye segment morphology	3651	PDX1	ORPHA:99885
HP:0004329	Abnormal posterior eye segment morphology	6833	ABCC8	ORPHA:552
HP:0004329	Abnormal posterior eye segment morphology	6833	ABCC8	ORPHA:99885
HP:0004329	Abnormal posterior eye segment morphology	5078	PAX4	ORPHA:552
HP:0004329	Abnormal posterior eye segment morphology	3172	HNF4A	ORPHA:552
HP:0004329	Abnormal posterior eye segment morphology	6927	HNF1A	ORPHA:552
HP:0004329	Abnormal posterior eye segment morphology	3630	INS	ORPHA:552
HP:0004329	Abnormal posterior eye segment morphology	3630	INS	ORPHA:99885
HP:0004329	Abnormal posterior eye segment morphology	3043	HBB	ORPHA:232
HP:0004329	Abnormal posterior eye segment morphology	3043	HBB	ORPHA:251380
HP:0004329	Abnormal posterior eye segment morphology	3043	HBB	OMIM:603903
HP:0004329	Abnormal posterior eye segment morphology	4547	MTTP	OMIM:200100
HP:0004329	Abnormal posterior eye segment morphology	189	AGXT	OMIM:259900
HP:0004329	Abnormal posterior eye segment morphology	1355	COX15	OMIM:615119
HP:0004329	Abnormal posterior eye segment morphology	79848	CSPP1	OMIM:615636
HP:0004329	Abnormal posterior eye segment morphology	1493	CTLA4	ORPHA:900
HP:0004329	Abnormal posterior eye segment morphology	1493	CTLA4	ORPHA:536
HP:0004329	Abnormal posterior eye segment morphology	26191	PTPN22	ORPHA:900
HP:0004329	Abnormal posterior eye segment morphology	26191	PTPN22	ORPHA:536
HP:0004329	Abnormal posterior eye segment morphology	3115	HLA-DPB1	ORPHA:900
HP:0004329	Abnormal posterior eye segment morphology	5657	PRTN3	ORPHA:900
HP:0004329	Abnormal posterior eye segment morphology	3113	HLA-DPA1	ORPHA:900
HP:0004329	Abnormal posterior eye segment morphology	3425	IDUA	ORPHA:93473
HP:0004329	Abnormal posterior eye segment morphology	5627	PROS1	ORPHA:743
HP:0004329	Abnormal posterior eye segment morphology	53335	BCL11A	ORPHA:251380
HP:0004329	Abnormal posterior eye segment morphology	10661	KLF1	ORPHA:251380
HP:0004329	Abnormal posterior eye segment morphology	3047	HBG1	ORPHA:251380
HP:0004329	Abnormal posterior eye segment morphology	3048	HBG2	ORPHA:251380
HP:0004329	Abnormal posterior eye segment morphology	10733	PLK4	OMIM:616171
HP:0004329	Abnormal posterior eye segment morphology	1387	CREBBP	ORPHA:353281
HP:0004329	Abnormal posterior eye segment morphology	25828	TXN2	ORPHA:478029
HP:0004329	Abnormal posterior eye segment morphology	25828	TXN2	OMIM:616811
HP:0004329	Abnormal posterior eye segment morphology	2068	ERCC2	ORPHA:220295
HP:0004329	Abnormal posterior eye segment morphology	2073	ERCC5	ORPHA:220295
HP:0004329	Abnormal posterior eye segment morphology	2072	ERCC4	ORPHA:220295
HP:0004329	Abnormal posterior eye segment morphology	2071	ERCC3	ORPHA:220295
HP:0004329	Abnormal posterior eye segment morphology	224	ALDH3A2	ORPHA:816
HP:0004329	Abnormal posterior eye segment morphology	4286	MITF	ORPHA:618
HP:0004329	Abnormal posterior eye segment morphology	1019	CDK4	ORPHA:618
HP:0004329	Abnormal posterior eye segment morphology	4255	MGMT	ORPHA:618
HP:0004329	Abnormal posterior eye segment morphology	54386	TERF2IP	ORPHA:618
HP:0004329	Abnormal posterior eye segment morphology	4157	MC1R	ORPHA:618
HP:0004329	Abnormal posterior eye segment morphology	65057	ACD	ORPHA:618
HP:0004329	Abnormal posterior eye segment morphology	1029	CDKN2A	ORPHA:618
HP:0004329	Abnormal posterior eye segment morphology	7015	TERT	ORPHA:618
HP:0004329	Abnormal posterior eye segment morphology	25913	POT1	ORPHA:618
HP:0004329	Abnormal posterior eye segment morphology	1030	CDKN2B	ORPHA:618
HP:0004329	Abnormal posterior eye segment morphology	256471	MFSD8	OMIM:610951
HP:0004329	Abnormal posterior eye segment morphology	51128	SAR1B	ORPHA:71
HP:0004329	Abnormal posterior eye segment morphology	4758	NEU1	ORPHA:812
HP:0004329	Abnormal posterior eye segment morphology	57192	MCOLN1	ORPHA:578
HP:0004329	Abnormal posterior eye segment morphology	6774	STAT3	ORPHA:99885
HP:0004329	Abnormal posterior eye segment morphology	2215	FCGR3B	ORPHA:536
HP:0004329	Abnormal posterior eye segment morphology	6775	STAT4	ORPHA:536
HP:0004329	Abnormal posterior eye segment morphology	6775	STAT4	ORPHA:117
HP:0004329	Abnormal posterior eye segment morphology	3684	ITGAM	ORPHA:536
HP:0004329	Abnormal posterior eye segment morphology	3586	IL10	ORPHA:536
HP:0004329	Abnormal posterior eye segment morphology	3586	IL10	ORPHA:117
HP:0004329	Abnormal posterior eye segment morphology	221895	JAZF1	ORPHA:536
HP:0004329	Abnormal posterior eye segment morphology	11277	TREX1	ORPHA:536
HP:0004329	Abnormal posterior eye segment morphology	7292	TNFSF4	ORPHA:536
HP:0004329	Abnormal posterior eye segment morphology	720	C4A	ORPHA:536
HP:0004329	Abnormal posterior eye segment morphology	720	C4A	ORPHA:117
HP:0004329	Abnormal posterior eye segment morphology	55024	BANK1	ORPHA:536
HP:0004329	Abnormal posterior eye segment morphology	3500	IGHG1	ORPHA:536
HP:0004329	Abnormal posterior eye segment morphology	3654	IRAK1	ORPHA:536
HP:0004329	Abnormal posterior eye segment morphology	1380	CR2	ORPHA:536
HP:0004329	Abnormal posterior eye segment morphology	5133	PDCD1	ORPHA:536
HP:0004329	Abnormal posterior eye segment morphology	2113	ETS1	ORPHA:536
HP:0004329	Abnormal posterior eye segment morphology	2213	FCGR2B	ORPHA:536
HP:0004329	Abnormal posterior eye segment morphology	10318	TNIP1	ORPHA:536
HP:0004329	Abnormal posterior eye segment morphology	7332	UBE2L3	ORPHA:536
HP:0004329	Abnormal posterior eye segment morphology	79932	KIAA0319L	ORPHA:536
HP:0004329	Abnormal posterior eye segment morphology	4204	MECP2	ORPHA:536
HP:0004329	Abnormal posterior eye segment morphology	3663	IRF5	ORPHA:536
HP:0004329	Abnormal posterior eye segment morphology	3123	HLA-DRB1	ORPHA:536
HP:0004329	Abnormal posterior eye segment morphology	721	C4B	ORPHA:536
HP:0004329	Abnormal posterior eye segment morphology	1773	DNASE1	ORPHA:536
HP:0004329	Abnormal posterior eye segment morphology	51284	TLR7	ORPHA:536
HP:0004329	Abnormal posterior eye segment morphology	6696	SPP1	ORPHA:536
HP:0004329	Abnormal posterior eye segment morphology	54899	PXK	ORPHA:536
HP:0004329	Abnormal posterior eye segment morphology	7128	TNFAIP3	ORPHA:536
HP:0004329	Abnormal posterior eye segment morphology	3423	IDS	ORPHA:217093
HP:0004329	Abnormal posterior eye segment morphology	3423	IDS	ORPHA:217085
HP:0004329	Abnormal posterior eye segment morphology	5264	PHYH	ORPHA:773
HP:0004329	Abnormal posterior eye segment morphology	5191	PEX7	ORPHA:773
HP:0004329	Abnormal posterior eye segment morphology	8813	DPM1	OMIM:608799
HP:0004329	Abnormal posterior eye segment morphology	8813	DPM1	ORPHA:79322
HP:0004329	Abnormal posterior eye segment morphology	348	APOE	ORPHA:158029
HP:0004329	Abnormal posterior eye segment morphology	80025	PANK2	ORPHA:216873
HP:0004329	Abnormal posterior eye segment morphology	2260	FGFR1	ORPHA:2396
HP:0004329	Abnormal posterior eye segment morphology	3845	KRAS	ORPHA:2396
HP:0004329	Abnormal posterior eye segment morphology	3643	INSR	ORPHA:769
HP:0004329	Abnormal posterior eye segment morphology	3593	IL12B	ORPHA:3287
HP:0004329	Abnormal posterior eye segment morphology	3106	HLA-B	ORPHA:3287
HP:0004329	Abnormal posterior eye segment morphology	3106	HLA-B	ORPHA:117
HP:0004329	Abnormal posterior eye segment morphology	6945	MLX	ORPHA:3287
HP:0004329	Abnormal posterior eye segment morphology	79053	ALG8	ORPHA:79325
HP:0004329	Abnormal posterior eye segment morphology	4508	MT-ATP6	OMIM:551500
HP:0004329	Abnormal posterior eye segment morphology	9203	ZMYM3	OMIM:301111
HP:0004329	Abnormal posterior eye segment morphology	5727	PTCH1	ORPHA:77301
HP:0004329	Abnormal posterior eye segment morphology	4982	TNFRSF11B	OMIM:239000
HP:0004329	Abnormal posterior eye segment morphology	641	BLM	ORPHA:125
HP:0004329	Abnormal posterior eye segment morphology	3030	HADHA	ORPHA:5
HP:0004329	Abnormal posterior eye segment morphology	10815	CPLX1	ORPHA:280
HP:0004329	Abnormal posterior eye segment morphology	54872	PIGG	ORPHA:280
HP:0004329	Abnormal posterior eye segment morphology	7469	NELFA	ORPHA:280
HP:0004329	Abnormal posterior eye segment morphology	1487	CTBP1	ORPHA:280
HP:0004329	Abnormal posterior eye segment morphology	3954	LETM1	ORPHA:280
HP:0004329	Abnormal posterior eye segment morphology	7468	NSD2	ORPHA:280
HP:0004329	Abnormal posterior eye segment morphology	10533	ATG7	OMIM:619422
HP:0004329	Abnormal posterior eye segment morphology	27077	B9D1	OMIM:617120
HP:0004329	Abnormal posterior eye segment morphology	375056	MIA3	OMIM:619269
HP:0004329	Abnormal posterior eye segment morphology	84314	TMEM107	OMIM:617563
HP:0004329	Abnormal posterior eye segment morphology	84314	TMEM107	OMIM:617562
HP:0004329	Abnormal posterior eye segment morphology	9907	AP5Z1	ORPHA:306511
HP:0004329	Abnormal posterior eye segment morphology	9907	AP5Z1	OMIM:613647
HP:0004329	Abnormal posterior eye segment morphology	79583	TMEM231	OMIM:614970
HP:0004329	Abnormal posterior eye segment morphology	203068	TUBB	ORPHA:2505
HP:0004329	Abnormal posterior eye segment morphology	10982	MAPRE2	ORPHA:2505
HP:0004329	Abnormal posterior eye segment morphology	22954	TRIM32	OMIM:615988
HP:0004329	Abnormal posterior eye segment morphology	58497	PRUNE1	ORPHA:544469
HP:0004329	Abnormal posterior eye segment morphology	5167	ENPP1	ORPHA:758
HP:0004329	Abnormal posterior eye segment morphology	368	ABCC6	ORPHA:758
HP:0004329	Abnormal posterior eye segment morphology	79158	GNPTAB	OMIM:252600
HP:0004329	Abnormal posterior eye segment morphology	149233	IL23R	ORPHA:117
HP:0004329	Abnormal posterior eye segment morphology	4210	MEFV	ORPHA:117
HP:0004329	Abnormal posterior eye segment morphology	1230	CCR1	ORPHA:117
HP:0004329	Abnormal posterior eye segment morphology	355	FAS	ORPHA:117
HP:0004329	Abnormal posterior eye segment morphology	3592	IL12A	ORPHA:117
HP:0004329	Abnormal posterior eye segment morphology	101928376	IL12A-AS1	ORPHA:117
HP:0004329	Abnormal posterior eye segment morphology	7099	TLR4	ORPHA:117
HP:0004329	Abnormal posterior eye segment morphology	3459	IFNGR1	ORPHA:117
HP:0004329	Abnormal posterior eye segment morphology	337867	UBAC2	ORPHA:117
HP:0004329	Abnormal posterior eye segment morphology	51752	ERAP1	ORPHA:117
HP:0004329	Abnormal posterior eye segment morphology	8302	KLRC4	ORPHA:117
HP:0004329	Abnormal posterior eye segment morphology	1001	CDH3	ORPHA:1897
HP:0004329	Abnormal posterior eye segment morphology	65217	PCDH15	OMIM:601067
HP:0004329	Abnormal posterior eye segment morphology	65217	PCDH15	OMIM:602083
HP:0004329	Abnormal posterior eye segment morphology	91452	ACBD5	OMIM:618863
HP:0004329	Abnormal posterior eye segment morphology	4598	MVK	OMIM:260920
HP:0004329	Abnormal posterior eye segment morphology	23126	POGZ	ORPHA:468678
HP:0004329	Abnormal posterior eye segment morphology	23126	POGZ	OMIM:616364
HP:0004329	Abnormal posterior eye segment morphology	4567	MT-TL1	ORPHA:255210
HP:0004329	Abnormal posterior eye segment morphology	4578	MT-TW	ORPHA:255210
HP:0004329	Abnormal posterior eye segment morphology	4577	MT-TV	ORPHA:255210
HP:0004329	Abnormal posterior eye segment morphology	4566	MT-TK	ORPHA:255210
HP:0004329	Abnormal posterior eye segment morphology	6311	ATXN2	OMIM:183090
HP:0004329	Abnormal posterior eye segment morphology	4646	MYO6	OMIM:607821
HP:0004329	Abnormal posterior eye segment morphology	4509	MT-ATP8	ORPHA:254913
HP:0004329	Abnormal posterior eye segment morphology	514	ATP5F1E	ORPHA:254913
HP:0004329	Abnormal posterior eye segment morphology	513	ATP5F1D	ORPHA:254913
HP:0004329	Abnormal posterior eye segment morphology	498	ATP5F1A	ORPHA:254913
HP:0004329	Abnormal posterior eye segment morphology	84833	ATP5MK	ORPHA:254913
HP:0004329	Abnormal posterior eye segment morphology	91647	ATPAF2	ORPHA:254913
HP:0004329	Abnormal posterior eye segment morphology	26090	ABHD12	OMIM:612674
HP:0004329	Abnormal posterior eye segment morphology	10352	WARS2	ORPHA:572798
HP:0004329	Abnormal posterior eye segment morphology	10352	WARS2	OMIM:617710
HP:0004329	Abnormal posterior eye segment morphology	55012	PPP2R3C	OMIM:618419
HP:0004329	Abnormal posterior eye segment morphology	5373	PMM2	OMIM:212065
HP:0004329	Abnormal posterior eye segment morphology	5373	PMM2	ORPHA:79318
HP:0004329	Abnormal posterior eye segment morphology	491	ATP2B2	OMIM:601386
HP:0004329	Abnormal posterior eye segment morphology	1798	DPAGT1	ORPHA:86309
HP:0004329	Abnormal posterior eye segment morphology	3098	HK1	OMIM:618547
HP:0004329	Abnormal posterior eye segment morphology	4191	MDH2	OMIM:617339
HP:0004329	Abnormal posterior eye segment morphology	6134	RPL10	ORPHA:459070
HP:0004329	Abnormal posterior eye segment morphology	6134	RPL10	OMIM:300998
HP:0004329	Abnormal posterior eye segment morphology	10518	CIB2	OMIM:614869
HP:0004329	Abnormal posterior eye segment morphology	124590	USH1G	OMIM:606943
HP:0004329	Abnormal posterior eye segment morphology	402	ARL2	OMIM:619082
HP:0004329	Abnormal posterior eye segment morphology	7355	SLC35A2	OMIM:300896
HP:0004329	Abnormal posterior eye segment morphology	9319	TRIP13	OMIM:617598
HP:0004329	Abnormal posterior eye segment morphology	50484	RRM2B	OMIM:268315
HP:0004329	Abnormal posterior eye segment morphology	7867	MAPKAPK3	OMIM:617111
HP:0004329	Abnormal posterior eye segment morphology	2625	GATA3	ORPHA:2237
HP:0004329	Abnormal posterior eye segment morphology	25981	DNAH1	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	115948	ODAD3	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	54768	HYDIN	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	352909	DNAAF3	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	27148	STK36	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	51314	NME8	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	92749	DRC1	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	54970	TTC12	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	152110	NEK10	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	2302	FOXJ1	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	221421	RSPH9	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	85478	CCDC65	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	55036	CCDC40	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	51364	ZMYND10	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	64446	DNAI2	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	8382	NME5	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	6674	SPAG1	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	83544	DNAL1	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	89765	RSPH1	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	83538	ODAD4	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	200373	CFAP221	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	374407	DNAJB13	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	55172	DNAAF2	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	161582	DNAAF4	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	2622	GAS8	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	23639	DNAAF11	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	27019	DNAI1	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	345895	RSPH4A	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	54919	DNAAF5	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	85452	CFAP74	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	93233	ODAD1	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	55130	ODAD2	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	1767	DNAH5	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	83861	RSPH3	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	345643	MCIDAS	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	56683	CFAP298	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	79925	SPEF2	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	10309	CCNO	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	115399	LRRC56	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	139212	DNAAF6	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	123872	DNAAF1	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	85016	CFAP300	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	339829	CCDC39	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	8701	DNAH11	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	1770	DNAH9	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	246176	GAS2L2	ORPHA:244
HP:0004329	Abnormal posterior eye segment morphology	3329	HSPD1	ORPHA:100994
HP:0004329	Abnormal posterior eye segment morphology	3798	KIF5A	ORPHA:100991
HP:0004329	Abnormal posterior eye segment morphology	25861	WHRN	OMIM:611383
HP:0004329	Abnormal posterior eye segment morphology	23600	AMACR	OMIM:614307
HP:0004329	Abnormal posterior eye segment morphology	443	ASPA	ORPHA:314918
HP:0004329	Abnormal posterior eye segment morphology	27235	COQ2	OMIM:607426
HP:0004329	Abnormal posterior eye segment morphology	28982	FLVCR1	ORPHA:88628
HP:0004329	Abnormal posterior eye segment morphology	28982	FLVCR1	OMIM:609033
HP:0004329	Abnormal posterior eye segment morphology	4704	NDUFA9	OMIM:618247
HP:0004329	Abnormal posterior eye segment morphology	2232	FDXR	OMIM:617717
HP:0004329	Abnormal posterior eye segment morphology	4647	MYO7A	OMIM:276900
HP:0004329	Abnormal posterior eye segment morphology	10083	USH1C	OMIM:276900
HP:0004329	Abnormal posterior eye segment morphology	10083	USH1C	OMIM:276904
HP:0004329	Abnormal posterior eye segment morphology	84059	ADGRV1	OMIM:605472
HP:0004329	Abnormal posterior eye segment morphology	9894	TELO2	ORPHA:488642
HP:0004329	Abnormal posterior eye segment morphology	617	BCS1L	OMIM:124000
HP:0004329	Abnormal posterior eye segment morphology	51	ACOX1	OMIM:264470
HP:0004329	Abnormal posterior eye segment morphology	253827	MSRB3	OMIM:613718
HP:0004329	Abnormal posterior eye segment morphology	79644	SRD5A3	ORPHA:324737
HP:0004329	Abnormal posterior eye segment morphology	23404	EXOSC2	OMIM:617763
HP:0004329	Abnormal posterior eye segment morphology	8517	IKBKG	ORPHA:464
HP:0004329	Abnormal posterior eye segment morphology	26123	TCTN3	ORPHA:564
HP:0004329	Abnormal posterior eye segment morphology	79867	TCTN2	ORPHA:564
HP:0004329	Abnormal posterior eye segment morphology	80776	B9D2	ORPHA:564
HP:0004329	Abnormal posterior eye segment morphology	79600	TCTN1	ORPHA:564
HP:0004329	Abnormal posterior eye segment morphology	51259	TMEM216	ORPHA:564
HP:0004329	Abnormal posterior eye segment morphology	57545	CC2D2A	ORPHA:564
HP:0004329	Abnormal posterior eye segment morphology	91147	TMEM67	ORPHA:564
HP:0004329	Abnormal posterior eye segment morphology	79770	TXNDC15	ORPHA:564
HP:0004329	Abnormal posterior eye segment morphology	23322	RPGRIP1L	ORPHA:564
HP:0004329	Abnormal posterior eye segment morphology	65062	TMEM237	ORPHA:564
HP:0004329	Abnormal posterior eye segment morphology	55670	PEX26	ORPHA:912
HP:0004329	Abnormal posterior eye segment morphology	5824	PEX19	ORPHA:912
HP:0004329	Abnormal posterior eye segment morphology	5828	PEX2	ORPHA:912
HP:0004329	Abnormal posterior eye segment morphology	8504	PEX3	ORPHA:912
HP:0004329	Abnormal posterior eye segment morphology	8799	PEX11B	ORPHA:912
HP:0004329	Abnormal posterior eye segment morphology	9409	PEX16	ORPHA:912
HP:0004329	Abnormal posterior eye segment morphology	5190	PEX6	ORPHA:912
HP:0004329	Abnormal posterior eye segment morphology	5830	PEX5	ORPHA:912
HP:0004329	Abnormal posterior eye segment morphology	5189	PEX1	ORPHA:912
HP:0004329	Abnormal posterior eye segment morphology	5193	PEX12	ORPHA:912
HP:0004329	Abnormal posterior eye segment morphology	5194	PEX13	ORPHA:912
HP:0004329	Abnormal posterior eye segment morphology	5195	PEX14	ORPHA:912
HP:0004329	Abnormal posterior eye segment morphology	5192	PEX10	ORPHA:912
HP:0004329	Abnormal posterior eye segment morphology	5456	POU3F4	ORPHA:1435
HP:0004329	Abnormal posterior eye segment morphology	114548	NLRP3	ORPHA:1451
HP:0004329	Abnormal posterior eye segment morphology	64132	XYLT2	OMIM:605822
HP:0004329	Abnormal posterior eye segment morphology	64132	XYLT2	ORPHA:85194
HP:0004329	Abnormal posterior eye segment morphology	875	CBS	ORPHA:394
HP:0004329	Abnormal posterior eye segment morphology	875	CBS	OMIM:236200
HP:0004329	Abnormal posterior eye segment morphology	778	CACNA1F	OMIM:300476
HP:0004329	Abnormal posterior eye segment morphology	6399	TRAPPC2	ORPHA:93284
HP:0004329	Abnormal posterior eye segment morphology	286053	NSMCE2	OMIM:617253
HP:0004329	Abnormal posterior eye segment morphology	286053	NSMCE2	ORPHA:436182
HP:0004329	Abnormal posterior eye segment morphology	5351	PLOD1	OMIM:225400
HP:0004329	Abnormal posterior eye segment morphology	5351	PLOD1	ORPHA:1900
HP:0004329	Abnormal posterior eye segment morphology	1859	DYRK1A	ORPHA:268261
HP:0004329	Abnormal posterior eye segment morphology	1859	DYRK1A	ORPHA:464311
HP:0004329	Abnormal posterior eye segment morphology	4897	NRCAM	OMIM:619833
HP:0004329	Abnormal posterior eye segment morphology	22947	DUX4L1	ORPHA:269
HP:0004329	Abnormal posterior eye segment morphology	1789	DNMT3B	ORPHA:269
HP:0004329	Abnormal posterior eye segment morphology	2483	FRG1	ORPHA:269
HP:0004329	Abnormal posterior eye segment morphology	23347	SMCHD1	ORPHA:269
HP:0004329	Abnormal posterior eye segment morphology	100288687	DUX4	ORPHA:269
HP:0004329	Abnormal posterior eye segment morphology	2200	FBN1	OMIM:129600
HP:0004329	Abnormal posterior eye segment morphology	2200	FBN1	OMIM:154700
HP:0004329	Abnormal posterior eye segment morphology	2200	FBN1	ORPHA:2833
HP:0004329	Abnormal posterior eye segment morphology	55812	SPATA7	ORPHA:364055
HP:0004329	Abnormal posterior eye segment morphology	167691	LCA5	ORPHA:364055
HP:0004329	Abnormal posterior eye segment morphology	64412	GZF1	OMIM:617662
HP:0004329	Abnormal posterior eye segment morphology	10413	YAP1	ORPHA:1473
HP:0004329	Abnormal posterior eye segment morphology	2314	FLII	ORPHA:819
HP:0004329	Abnormal posterior eye segment morphology	23096	IQSEC2	ORPHA:819
HP:0004329	Abnormal posterior eye segment morphology	10743	RAI1	ORPHA:819
HP:0004329	Abnormal posterior eye segment morphology	10743	RAI1	OMIM:182290
HP:0004329	Abnormal posterior eye segment morphology	10522	DEAF1	ORPHA:819
HP:0004329	Abnormal posterior eye segment morphology	29072	SETD2	OMIM:620157
HP:0004329	Abnormal posterior eye segment morphology	29072	SETD2	OMIM:620155
HP:0004329	Abnormal posterior eye segment morphology	7275	TUB	OMIM:616188
HP:0004329	Abnormal posterior eye segment morphology	113189	CHST14	ORPHA:2953
HP:0004329	Abnormal posterior eye segment morphology	113189	CHST14	OMIM:601776
HP:0004329	Abnormal posterior eye segment morphology	29940	DSE	ORPHA:2953
HP:0004329	Abnormal posterior eye segment morphology	2301	FOXE3	ORPHA:83461
HP:0004329	Abnormal posterior eye segment morphology	91851	CHRDL1	OMIM:309300
HP:0004329	Abnormal posterior eye segment morphology	79087	ALG12	OMIM:607143
HP:0004329	Abnormal posterior eye segment morphology	79087	ALG12	ORPHA:79324
HP:0004329	Abnormal posterior eye segment morphology	55714	TENM3	OMIM:615145
HP:0004329	Abnormal posterior eye segment morphology	92949	ADAMTSL1	ORPHA:521445
HP:0004329	Abnormal posterior eye segment morphology	4036	LRP2	ORPHA:2143
HP:0004329	Abnormal posterior eye segment morphology	4036	LRP2	OMIM:222448
HP:0004329	Abnormal posterior eye segment morphology	54507	ADAMTSL4	OMIM:225200
HP:0004329	Abnormal posterior eye segment morphology	10526	IPO8	OMIM:619472
HP:0004329	Abnormal posterior eye segment morphology	4810	NHS	ORPHA:627
HP:0004329	Abnormal posterior eye segment morphology	29925	GMPPB	ORPHA:370959
HP:0004329	Abnormal posterior eye segment morphology	7518	XRCC4	ORPHA:436182
HP:0004329	Abnormal posterior eye segment morphology	11107	PRDM5	ORPHA:90354
HP:0004329	Abnormal posterior eye segment morphology	84627	ZNF469	ORPHA:90354
HP:0004329	Abnormal posterior eye segment morphology	151188	ARL6IP6	ORPHA:1556
HP:0004329	Abnormal posterior eye segment morphology	7428	VHL	ORPHA:892
HP:0004329	Abnormal posterior eye segment morphology	595	CCND1	ORPHA:892
HP:0004329	Abnormal posterior eye segment morphology	8974	P4HA2	OMIM:617238
HP:0004329	Abnormal posterior eye segment morphology	4094	MAF	OMIM:610202
HP:0004329	Abnormal posterior eye segment morphology	1302	COL11A2	ORPHA:1427
HP:0004329	Abnormal posterior eye segment morphology	84695	LOXL3	OMIM:619781
HP:0004329	Abnormal posterior eye segment morphology	7543	ZFX	OMIM:301118
HP:0004329	Abnormal posterior eye segment morphology	85378	TUBGCP6	OMIM:251270
HP:0004329	Abnormal posterior eye segment morphology	80036	TRPM3	OMIM:620253
HP:0004329	Abnormal posterior eye segment morphology	9488	PIGB	OMIM:618580
HP:0004329	Abnormal posterior eye segment morphology	23769	FLRT1	ORPHA:320406
HP:0004329	Abnormal posterior eye segment morphology	64837	KLC2	ORPHA:320406
HP:0004329	Abnormal posterior eye segment morphology	64837	KLC2	OMIM:609541
HP:0004329	Abnormal posterior eye segment morphology	2895	GRID2	OMIM:616204
HP:0004329	Abnormal posterior eye segment morphology	7167	TPI1	OMIM:615512
HP:0004329	Abnormal posterior eye segment morphology	83700	JAM3	OMIM:613730
HP:0004329	Abnormal posterior eye segment morphology	123263	MTFMT	OMIM:614947
HP:0004329	Abnormal posterior eye segment morphology	80207	OPA3	OMIM:165300
HP:0004329	Abnormal posterior eye segment morphology	6687	SPG7	ORPHA:99013
HP:0004329	Abnormal posterior eye segment morphology	6809	STX3	OMIM:619446
HP:0004329	Abnormal posterior eye segment morphology	8566	PDXK	OMIM:618511
HP:0004329	Abnormal posterior eye segment morphology	84816	RTN4IP1	OMIM:616732
HP:0004329	Abnormal posterior eye segment morphology	5010	CLDN11	OMIM:619328
HP:0004329	Abnormal posterior eye segment morphology	9179	AP4M1	OMIM:612936
HP:0004329	Abnormal posterior eye segment morphology	54471	MIEF1	OMIM:620550
HP:0004329	Abnormal posterior eye segment morphology	4718	NDUFC2	OMIM:619170
HP:0004329	Abnormal posterior eye segment morphology	84340	GFM2	ORPHA:565624
HP:0004329	Abnormal posterior eye segment morphology	64834	ELOVL1	OMIM:618527
HP:0004329	Abnormal posterior eye segment morphology	9692	PRORP	OMIM:619737
HP:0004329	Abnormal posterior eye segment morphology	23327	NEDD4L	OMIM:617201
HP:0004329	Abnormal posterior eye segment morphology	8550	MAPKAPK5	OMIM:619869
HP:0004329	Abnormal posterior eye segment morphology	54664	TMEM106B	OMIM:617964
HP:0004329	Abnormal posterior eye segment morphology	9927	MFN2	OMIM:601152
HP:0004329	Abnormal posterior eye segment morphology	9927	MFN2	OMIM:617087
HP:0004329	Abnormal posterior eye segment morphology	149371	EXOC8	OMIM:619076
HP:0004329	Abnormal posterior eye segment morphology	1861	TOR1A	OMIM:618947
HP:0004329	Abnormal posterior eye segment morphology	90624	LYRM7	OMIM:615838
HP:0004329	Abnormal posterior eye segment morphology	3748	KCNC3	ORPHA:98768
HP:0004329	Abnormal posterior eye segment morphology	27349	MCAT	OMIM:620583
HP:0004329	Abnormal posterior eye segment morphology	1615	DARS1	OMIM:615281
HP:0004329	Abnormal posterior eye segment morphology	55617	TASP1	OMIM:618950
HP:0004329	Abnormal posterior eye segment morphology	56947	MFF	ORPHA:485421
HP:0004329	Abnormal posterior eye segment morphology	56947	MFF	OMIM:617086
HP:0004329	Abnormal posterior eye segment morphology	3187	HNRNPH1	OMIM:620083
HP:0004329	Abnormal posterior eye segment morphology	2055	CLN8	ORPHA:1947
HP:0004329	Abnormal posterior eye segment morphology	84233	TMEM126A	OMIM:612989
HP:0004329	Abnormal posterior eye segment morphology	28962	OSTM1	OMIM:259720
HP:0004329	Abnormal posterior eye segment morphology	55181	SMG8	OMIM:619268
HP:0004329	Abnormal posterior eye segment morphology	55331	ACER3	OMIM:617762
HP:0004329	Abnormal posterior eye segment morphology	9181	ARHGEF2	OMIM:617523
HP:0004329	Abnormal posterior eye segment morphology	10939	AFG3L2	OMIM:618977
HP:0004329	Abnormal posterior eye segment morphology	27445	PCLO	OMIM:608027
HP:0004329	Abnormal posterior eye segment morphology	6310	ATXN1	OMIM:164400
HP:0004329	Abnormal posterior eye segment morphology	92840	REEP6	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	130557	ZNF513	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	582	BBS1	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	582	BBS1	OMIM:209900
HP:0004329	Abnormal posterior eye segment morphology	92211	CDHR1	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	23568	ARL2BP	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	6101	RP1	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	3419	IDH3A	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	4751	NEK2	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	346007	EYS	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	8100	IFT88	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	23020	SNRNP200	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	762	CA4	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	138050	HGSNAT	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	196	AHR	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	3614	IMPDH1	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	123016	TTC8	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	6103	RPGR	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	26160	IFT172	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	26160	IFT172	OMIM:615630
HP:0004329	Abnormal posterior eye segment morphology	26121	PRPF31	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	583	BBS2	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	583	BBS2	OMIM:615981
HP:0004329	Abnormal posterior eye segment morphology	4117	MAK	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	25794	FSCN2	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	375298	CERKL	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	3420	IDH3B	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	57670	KIAA1549	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	24148	PRPF6	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	10461	MERTK	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	57709	SLC7A14	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	768206	PRCD	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	7399	USH2A	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	23370	ARHGEF18	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	6100	RP9	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	84140	FAM161A	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	5145	PDE6A	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	10210	TOPORS	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	9128	PRPF4	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	9128	PRPF4	OMIM:615922
HP:0004329	Abnormal posterior eye segment morphology	145226	RDH12	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	50939	IMPG2	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	8481	OFD1	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	49855	SCAPER	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	9742	IFT140	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	2979	GUCA1B	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	1258	CNGB1	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	60509	AGBL5	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	9785	DHX38	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	7287	TULP1	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	7287	TULP1	OMIM:613843
HP:0004329	Abnormal posterior eye segment morphology	5995	RGR	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	9129	PRPF3	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	55975	KLHL7	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	3617	IMPG1	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	55857	KIZ	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	64218	SEMA4A	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	4901	NRL	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	79947	DHDDS	ORPHA:791
HP:0004329	Abnormal posterior eye segment morphology	79947	DHDDS	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	10681	GNB5	OMIM:617173
HP:0004329	Abnormal posterior eye segment morphology	10681	GNB5	ORPHA:542306
HP:0004329	Abnormal posterior eye segment morphology	3028	HSD17B10	OMIM:300438
HP:0004329	Abnormal posterior eye segment morphology	3028	HSD17B10	ORPHA:391428
HP:0004329	Abnormal posterior eye segment morphology	22901	ARSG	OMIM:618144
HP:0004329	Abnormal posterior eye segment morphology	1161	ERCC8	ORPHA:90324
HP:0004329	Abnormal posterior eye segment morphology	2074	ERCC6	ORPHA:90324
HP:0004329	Abnormal posterior eye segment morphology	1356	CP	OMIM:604290
HP:0004329	Abnormal posterior eye segment morphology	1356	CP	ORPHA:48818
HP:0004329	Abnormal posterior eye segment morphology	10806	SDCCAG8	OMIM:615993
HP:0004329	Abnormal posterior eye segment morphology	10806	SDCCAG8	OMIM:613615
HP:0004329	Abnormal posterior eye segment morphology	54585	LZTFL1	OMIM:615994
HP:0004329	Abnormal posterior eye segment morphology	338	APOB	OMIM:615558
HP:0004329	Abnormal posterior eye segment morphology	755	CFAP410	OMIM:602271
HP:0004329	Abnormal posterior eye segment morphology	10283	CWC27	OMIM:250410
HP:0004329	Abnormal posterior eye segment morphology	10283	CWC27	ORPHA:166035
HP:0004329	Abnormal posterior eye segment morphology	54982	CLN6	OMIM:601780
HP:0004329	Abnormal posterior eye segment morphology	285362	SUMF1	OMIM:272200
HP:0004329	Abnormal posterior eye segment morphology	23503	ZFYVE26	OMIM:270700
HP:0004329	Abnormal posterior eye segment morphology	51741	WWOX	OMIM:616211
HP:0004329	Abnormal posterior eye segment morphology	51741	WWOX	OMIM:614322
HP:0004329	Abnormal posterior eye segment morphology	51741	WWOX	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	4976	OPA1	OMIM:616896
HP:0004329	Abnormal posterior eye segment morphology	4081	MAB21L1	OMIM:618479
HP:0004329	Abnormal posterior eye segment morphology	85015	USP45	OMIM:618513
HP:0004329	Abnormal posterior eye segment morphology	1200	TPP1	OMIM:204500
HP:0004329	Abnormal posterior eye segment morphology	7486	WRN	OMIM:277700
HP:0004329	Abnormal posterior eye segment morphology	284086	NEK8	OMIM:613824
HP:0004329	Abnormal posterior eye segment morphology	10908	PNPLA6	OMIM:275400
HP:0004329	Abnormal posterior eye segment morphology	10908	PNPLA6	ORPHA:3363
HP:0004329	Abnormal posterior eye segment morphology	80208	SPG11	OMIM:604360
HP:0004329	Abnormal posterior eye segment morphology	80208	SPG11	ORPHA:2822
HP:0004329	Abnormal posterior eye segment morphology	4125	MAN2B1	OMIM:248500
HP:0004329	Abnormal posterior eye segment morphology	5538	PPT1	OMIM:256730
HP:0004329	Abnormal posterior eye segment morphology	10560	SLC19A2	OMIM:249270
HP:0004329	Abnormal posterior eye segment morphology	1203	CLN5	OMIM:256731
HP:0004329	Abnormal posterior eye segment morphology	23090	ZNF423	OMIM:614844
HP:0004329	Abnormal posterior eye segment morphology	25974	MMACHC	ORPHA:79282
HP:0004329	Abnormal posterior eye segment morphology	22897	CEP164	OMIM:614845
HP:0004329	Abnormal posterior eye segment morphology	54148	MRPL39	OMIM:620646
HP:0004329	Abnormal posterior eye segment morphology	10383	TUBB4B	OMIM:617879
HP:0004329	Abnormal posterior eye segment morphology	79140	CCDC28B	OMIM:209900
HP:0004329	Abnormal posterior eye segment morphology	23761	PISD	OMIM:618889
HP:0004329	Abnormal posterior eye segment morphology	404672	GTF2H5	ORPHA:33364
HP:0004329	Abnormal posterior eye segment morphology	833	CARS1	ORPHA:33364
HP:0004329	Abnormal posterior eye segment morphology	7737	RNF113A	ORPHA:33364
HP:0004329	Abnormal posterior eye segment morphology	136647	MPLKIP	ORPHA:33364
HP:0004329	Abnormal posterior eye segment morphology	6897	TARS1	ORPHA:33364
HP:0004329	Abnormal posterior eye segment morphology	16	AARS1	ORPHA:33364
HP:0004329	Abnormal posterior eye segment morphology	16	AARS1	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	2961	GTF2E2	ORPHA:33364
HP:0004329	Abnormal posterior eye segment morphology	29929	ALG6	ORPHA:79320
HP:0004329	Abnormal posterior eye segment morphology	1737	DLAT	ORPHA:79244
HP:0004329	Abnormal posterior eye segment morphology	285440	CYP4V2	OMIM:210370
HP:0004329	Abnormal posterior eye segment morphology	64802	NMNAT1	OMIM:619260
HP:0004329	Abnormal posterior eye segment morphology	23155	CLCC1	OMIM:609913
HP:0004329	Abnormal posterior eye segment morphology	585	BBS4	OMIM:615982
HP:0004329	Abnormal posterior eye segment morphology	1201	CLN3	OMIM:204200
HP:0004329	Abnormal posterior eye segment morphology	27241	BBS9	OMIM:615986
HP:0004329	Abnormal posterior eye segment morphology	3737	KCNA2	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	1759	DNM1	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	8120	AP3B2	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	523	ATP6V1A	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	10991	SLC38A3	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	51343	FZR1	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	3747	KCNC2	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	1917	EEF1A2	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	23219	FBXO28	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	2561	GABRB2	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	8831	SYNGAP1	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	2558	GABRA5	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	2906	GRIN2D	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	116150	NUS1	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	1213	CLTC	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	23334	SZT2	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	348980	HCN1	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	25977	NECAP1	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	23241	PACS2	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	6334	SCN8A	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	9568	GABBR2	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	2555	GABRA2	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	55152	DALRD3	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	26999	CYFIP2	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	4915	NTRK2	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	25973	PARS2	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	23097	CDK19	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	2257	FGF12	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	5530	PPP3CA	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	478	ATP1A3	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	22906	TRAK1	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	2566	GABRG2	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	7532	YWHAG	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	79876	UBA5	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	6328	SCN3A	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	781	CACNA2D1	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	10659	CELF2	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	774	CACNA1B	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	51412	ACTL6B	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	2290	FOXG1	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	6506	SLC1A2	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	8867	SYNJ1	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	477	ATP1A2	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	3745	KCNB1	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	284111	SLC13A5	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	22866	CNKSR2	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	773	CACNA1A	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	6323	SCN1A	ORPHA:442835
HP:0004329	Abnormal posterior eye segment morphology	4000	LMNA	ORPHA:79474
HP:0004329	Abnormal posterior eye segment morphology	10464	PIBF1	OMIM:617767
HP:0004329	Abnormal posterior eye segment morphology	169522	KCNV2	OMIM:610356
HP:0004329	Abnormal posterior eye segment morphology	55768	NGLY1	ORPHA:404454
HP:0004329	Abnormal posterior eye segment morphology	80216	ALPK1	OMIM:614979
HP:0004329	Abnormal posterior eye segment morphology	27183	VPS4A	OMIM:619273
HP:0004329	Abnormal posterior eye segment morphology	25970	SH2B1	ORPHA:261222
HP:0004329	Abnormal posterior eye segment morphology	4750	NEK1	OMIM:263520
HP:0004329	Abnormal posterior eye segment morphology	92482	BBIP1	OMIM:615995
HP:0004329	Abnormal posterior eye segment morphology	92482	BBIP1	ORPHA:110
HP:0004329	Abnormal posterior eye segment morphology	54973	INTS11	OMIM:620428
HP:0004329	Abnormal posterior eye segment morphology	100151683	RNU4ATAC	ORPHA:353298
HP:0004329	Abnormal posterior eye segment morphology	100151683	RNU4ATAC	OMIM:616651
HP:0004329	Abnormal posterior eye segment morphology	2896	GRN	OMIM:614706
HP:0004329	Abnormal posterior eye segment morphology	5631	PRPS1	ORPHA:423479
HP:0004329	Abnormal posterior eye segment morphology	4867	NPHP1	OMIM:266900
HP:0004329	Abnormal posterior eye segment morphology	4867	NPHP1	ORPHA:110
HP:0004329	Abnormal posterior eye segment morphology	4867	NPHP1	ORPHA:3156
HP:0004329	Abnormal posterior eye segment morphology	64801	ARV1	OMIM:617020
HP:0004329	Abnormal posterior eye segment morphology	219854	TMEM218	OMIM:619562
HP:0004329	Abnormal posterior eye segment morphology	8882	ZPR1	OMIM:619321
HP:0004329	Abnormal posterior eye segment morphology	80055	PGAP1	OMIM:615802
HP:0004329	Abnormal posterior eye segment morphology	50	ACO2	OMIM:614559
HP:0004329	Abnormal posterior eye segment morphology	51010	EXOSC3	OMIM:614678
HP:0004329	Abnormal posterior eye segment morphology	128338	DRAM2	OMIM:616502
HP:0004329	Abnormal posterior eye segment morphology	4358	MPV17	OMIM:256810
HP:0004329	Abnormal posterior eye segment morphology	51109	RDH11	OMIM:616108
HP:0004329	Abnormal posterior eye segment morphology	26146	TRAF3IP1	OMIM:616629
HP:0004329	Abnormal posterior eye segment morphology	26146	TRAF3IP1	ORPHA:3156
HP:0004329	Abnormal posterior eye segment morphology	51524	TMEM138	ORPHA:2318
HP:0004329	Abnormal posterior eye segment morphology	51524	TMEM138	OMIM:614465
HP:0004329	Abnormal posterior eye segment morphology	55764	IFT122	OMIM:218330
HP:0004329	Abnormal posterior eye segment morphology	57531	HACE1	ORPHA:464282
HP:0004329	Abnormal posterior eye segment morphology	57531	HACE1	OMIM:616756
HP:0004329	Abnormal posterior eye segment morphology	283987	HID1	OMIM:619983
HP:0004329	Abnormal posterior eye segment morphology	5277	PIGA	OMIM:300868
HP:0004329	Abnormal posterior eye segment morphology	9445	ITM2B	OMIM:616079
HP:0004329	Abnormal posterior eye segment morphology	1410	CRYAB	OMIM:613763
HP:0004329	Abnormal posterior eye segment morphology	5950	RBP4	OMIM:615147
HP:0004329	Abnormal posterior eye segment morphology	5230	PGK1	ORPHA:713
HP:0004329	Abnormal posterior eye segment morphology	5230	PGK1	OMIM:300653
HP:0004329	Abnormal posterior eye segment morphology	7840	ALMS1	ORPHA:64
HP:0004329	Abnormal posterior eye segment morphology	11020	IFT27	ORPHA:110
HP:0004329	Abnormal posterior eye segment morphology	51057	WDPCP	ORPHA:110
HP:0004329	Abnormal posterior eye segment morphology	132320	SCLT1	ORPHA:110
HP:0004329	Abnormal posterior eye segment morphology	84984	CEP19	ORPHA:110
HP:0004329	Abnormal posterior eye segment morphology	79738	BBS10	ORPHA:110
HP:0004329	Abnormal posterior eye segment morphology	79738	BBS10	OMIM:615987
HP:0004329	Abnormal posterior eye segment morphology	8195	MKKS	ORPHA:110
HP:0004329	Abnormal posterior eye segment morphology	55212	BBS7	ORPHA:110
HP:0004329	Abnormal posterior eye segment morphology	166379	BBS12	ORPHA:110
HP:0004329	Abnormal posterior eye segment morphology	129880	BBS5	ORPHA:110
HP:0004329	Abnormal posterior eye segment morphology	80173	IFT74	ORPHA:110
HP:0004329	Abnormal posterior eye segment morphology	55213	RCBTB1	OMIM:617175
HP:0004329	Abnormal posterior eye segment morphology	134218	DNAJC21	OMIM:617052
HP:0004329	Abnormal posterior eye segment morphology	1182	CLCN3	OMIM:619512
HP:0004329	Abnormal posterior eye segment morphology	286	ANK1	ORPHA:251066
HP:0004329	Abnormal posterior eye segment morphology	92002	CCNQ	ORPHA:140952
HP:0004329	Abnormal posterior eye segment morphology	80210	ARMC9	OMIM:617622
HP:0004329	Abnormal posterior eye segment morphology	284217	LAMA1	OMIM:615960
HP:0004329	Abnormal posterior eye segment morphology	284217	LAMA1	ORPHA:370022
HP:0004329	Abnormal posterior eye segment morphology	57728	WDR19	OMIM:616307
HP:0004329	Abnormal posterior eye segment morphology	57728	WDR19	ORPHA:3156
HP:0004329	Abnormal posterior eye segment morphology	4921	DDR2	OMIM:618175
HP:0004329	Abnormal posterior eye segment morphology	9657	IQCB1	ORPHA:3156
HP:0004329	Abnormal posterior eye segment morphology	27130	INVS	ORPHA:3156
HP:0004329	Abnormal posterior eye segment morphology	261734	NPHP4	ORPHA:3156
HP:0004329	Abnormal posterior eye segment morphology	27031	NPHP3	ORPHA:3156
HP:0004329	Abnormal posterior eye segment morphology	9935	MAFB	ORPHA:233
HP:0004329	Abnormal posterior eye segment morphology	1123	CHN1	ORPHA:233
HP:0004329	Abnormal posterior eye segment morphology	64840	PORCN	OMIM:305600
HP:0004329	Abnormal posterior eye segment morphology	64840	PORCN	ORPHA:2092
HP:0004329	Abnormal posterior eye segment morphology	8260	NAA10	OMIM:309800
HP:0004329	Abnormal posterior eye segment morphology	8260	NAA10	ORPHA:568
HP:0004329	Abnormal posterior eye segment morphology	6711	SPTBN1	OMIM:619475
HP:0004329	Abnormal posterior eye segment morphology	6469	SHH	OMIM:611638
HP:0004329	Abnormal posterior eye segment morphology	79759	ZNF668	OMIM:620194
HP:0004329	Abnormal posterior eye segment morphology	6299	SALL1	OMIM:107480
HP:0004329	Abnormal posterior eye segment morphology	6299	SALL1	ORPHA:857
HP:0004329	Abnormal posterior eye segment morphology	3149	HMGB3	OMIM:300915
HP:0004329	Abnormal posterior eye segment morphology	4149	MAX	OMIM:620712
HP:0004329	Abnormal posterior eye segment morphology	51339	DACT1	ORPHA:857
HP:0004329	Abnormal posterior eye segment morphology	9573	GDF3	OMIM:613702
HP:0004329	Abnormal posterior eye segment morphology	9723	SEMA3E	ORPHA:138
HP:0004329	Abnormal posterior eye segment morphology	113246	C12orf57	OMIM:218340
HP:0004329	Abnormal posterior eye segment morphology	51322	WAC	ORPHA:284169
HP:0004329	Abnormal posterior eye segment morphology	57020	VPS35L	OMIM:619135
HP:0004329	Abnormal posterior eye segment morphology	57020	VPS35L	ORPHA:7
HP:0004329	Abnormal posterior eye segment morphology	55733	HHAT	ORPHA:1422
HP:0004329	Abnormal posterior eye segment morphology	8777	MPDZ	OMIM:615219
HP:0004329	Abnormal posterior eye segment morphology	50945	TBX22	ORPHA:921
HP:0004329	Abnormal posterior eye segment morphology	9897	WASHC5	ORPHA:7
HP:0004329	Abnormal posterior eye segment morphology	28952	CCDC22	ORPHA:7
HP:0004329	Abnormal posterior eye segment morphology	56896	DPYSL5	ORPHA:7
HP:0004329	Abnormal posterior eye segment morphology	2639	GCDH	ORPHA:25
HP:0004329	Abnormal posterior eye segment morphology	3458	IFNG	ORPHA:88
HP:0004329	Abnormal posterior eye segment morphology	5551	PRF1	ORPHA:88
HP:0004329	Abnormal posterior eye segment morphology	7012	TERC	ORPHA:88
HP:0004329	Abnormal posterior eye segment morphology	51119	SBDS	ORPHA:88
HP:0004329	Abnormal posterior eye segment morphology	4615	MYD88	ORPHA:33226
HP:0004329	Abnormal posterior eye segment morphology	64131	XYLT1	OMIM:264800
HP:0004329	Abnormal posterior eye segment morphology	1785	DNM2	OMIM:615368
HP:0004329	Abnormal posterior eye segment morphology	667	DST	OMIM:614653
HP:0004329	Abnormal posterior eye segment morphology	4558	MT-TF	ORPHA:550
HP:0004329	Abnormal posterior eye segment morphology	4572	MT-TQ	ORPHA:550
HP:0004329	Abnormal posterior eye segment morphology	4512	MT-CO1	ORPHA:550
HP:0004329	Abnormal posterior eye segment morphology	4513	MT-CO2	ORPHA:550
HP:0004329	Abnormal posterior eye segment morphology	4574	MT-TS1	ORPHA:550
HP:0004329	Abnormal posterior eye segment morphology	4574	MT-TS1	OMIM:220110
HP:0004329	Abnormal posterior eye segment morphology	4575	MT-TS2	ORPHA:550
HP:0004329	Abnormal posterior eye segment morphology	4564	MT-TH	ORPHA:550
HP:0004329	Abnormal posterior eye segment morphology	54892	NCAPG2	OMIM:618460
HP:0004329	Abnormal posterior eye segment morphology	4570	MT-TN	OMIM:220110
HP:0004329	Abnormal posterior eye segment morphology	6834	SURF1	OMIM:220110
HP:0004329	Abnormal posterior eye segment morphology	246243	RNASEH1	ORPHA:329336
HP:0004329	Abnormal posterior eye segment morphology	84334	COA8	ORPHA:436271
HP:0004329	Abnormal posterior eye segment morphology	1351	COX8A	OMIM:619059
HP:0004329	Abnormal posterior eye segment morphology	55154	MSTO1	OMIM:617675
HP:0004329	Abnormal posterior eye segment morphology	55154	MSTO1	ORPHA:502423
HP:0004329	Abnormal posterior eye segment morphology	80201	HKDC1	OMIM:619614
HP:0004329	Abnormal posterior eye segment morphology	80324	PUS1	OMIM:600462
HP:0004329	Abnormal posterior eye segment morphology	7466	WFS1	OMIM:222300
HP:0004329	Abnormal posterior eye segment morphology	857	CAV1	OMIM:606721
HP:0004329	Abnormal posterior eye segment morphology	51102	MECR	OMIM:617282
HP:0004329	Abnormal posterior eye segment morphology	4591	TRIM37	OMIM:253250
HP:0004329	Abnormal posterior eye segment morphology	100996717	NOTCH2NLC	OMIM:619473
HP:0004329	Abnormal posterior eye segment morphology	81689	ISCA1	OMIM:617613
HP:0004329	Abnormal posterior eye segment morphology	3032	HADHB	ORPHA:746
HP:0004329	Abnormal posterior eye segment morphology	200894	ARL13B	OMIM:612291
HP:0004329	Abnormal posterior eye segment morphology	182	JAG1	OMIM:118450
HP:0004329	Abnormal posterior eye segment morphology	3033	HADH	ORPHA:71212
HP:0004329	Abnormal posterior eye segment morphology	11128	POLR3A	ORPHA:3455
HP:0004329	Abnormal posterior eye segment morphology	9968	MED12	OMIM:301068
HP:0004329	Abnormal posterior eye segment morphology	2937	GSS	OMIM:266130
HP:0004329	Abnormal posterior eye segment morphology	6389	SDHA	ORPHA:3208
HP:0004329	Abnormal posterior eye segment morphology	6389	SDHA	OMIM:252011
HP:0004329	Abnormal posterior eye segment morphology	6390	SDHB	ORPHA:3208
HP:0004329	Abnormal posterior eye segment morphology	6392	SDHD	ORPHA:3208
HP:0004329	Abnormal posterior eye segment morphology	644096	SDHAF1	ORPHA:3208
HP:0004329	Abnormal posterior eye segment morphology	5052	PRDX1	OMIM:277400
HP:0004329	Abnormal posterior eye segment morphology	8905	AP1S2	ORPHA:85335
HP:0004329	Abnormal posterior eye segment morphology	2624	GATA2	ORPHA:228423
HP:0004329	Abnormal posterior eye segment morphology	5728	PTEN	ORPHA:109
HP:0004329	Abnormal posterior eye segment morphology	64127	NOD2	ORPHA:90340
HP:0004329	Abnormal posterior eye segment morphology	3190	HNRNPK	ORPHA:352665
HP:0004329	Abnormal posterior eye segment morphology	3190	HNRNPK	ORPHA:453504
HP:0004329	Abnormal posterior eye segment morphology	4644	MYO5A	ORPHA:33445
HP:0004329	Abnormal posterior eye segment morphology	171023	ASXL1	OMIM:605039
HP:0004329	Abnormal posterior eye segment morphology	9131	AIFM1	ORPHA:83629
HP:0004329	Abnormal posterior eye segment morphology	3832	KIF11	ORPHA:2526
HP:0004329	Abnormal posterior eye segment morphology	79628	SH3TC2	ORPHA:99949
HP:0004329	Abnormal posterior eye segment morphology	89910	UBE3B	ORPHA:2707
HP:0004329	Abnormal posterior eye segment morphology	4771	NF2	ORPHA:637
HP:0004329	Abnormal posterior eye segment morphology	2202	EFEMP1	ORPHA:98977
HP:0004329	Abnormal posterior eye segment morphology	1545	CYP1B1	ORPHA:98977
HP:0004329	Abnormal posterior eye segment morphology	4653	MYOC	ORPHA:98977
HP:0004329	Abnormal posterior eye segment morphology	7299	TYR	ORPHA:79431
HP:0004329	Abnormal posterior eye segment morphology	7299	TYR	ORPHA:79434
HP:0004329	Abnormal posterior eye segment morphology	2187	FANCB	ORPHA:3412
HP:0004329	Abnormal posterior eye segment morphology	84892	POMGNT2	ORPHA:899
HP:0004329	Abnormal posterior eye segment morphology	148789	B3GALNT2	ORPHA:899
HP:0004329	Abnormal posterior eye segment morphology	79147	FKRP	ORPHA:899
HP:0004329	Abnormal posterior eye segment morphology	29954	POMT2	ORPHA:899
HP:0004329	Abnormal posterior eye segment morphology	9215	LARGE1	ORPHA:899
HP:0004329	Abnormal posterior eye segment morphology	1282	COL4A1	ORPHA:899
HP:0004329	Abnormal posterior eye segment morphology	729920	CRPPA	ORPHA:899
HP:0004329	Abnormal posterior eye segment morphology	10329	RXYLT1	ORPHA:899
HP:0004329	Abnormal posterior eye segment morphology	1605	DAG1	ORPHA:899
HP:0004329	Abnormal posterior eye segment morphology	11041	B4GAT1	ORPHA:899
HP:0004329	Abnormal posterior eye segment morphology	10585	POMT1	ORPHA:899
HP:0004329	Abnormal posterior eye segment morphology	84197	POMK	ORPHA:899
HP:0004329	Abnormal posterior eye segment morphology	2218	FKTN	ORPHA:899
HP:0004329	Abnormal posterior eye segment morphology	55624	POMGNT1	ORPHA:899
HP:0004329	Abnormal posterior eye segment morphology	3476	IGBP1	OMIM:300472
HP:0004329	Abnormal posterior eye segment morphology	3476	IGBP1	ORPHA:52055
HP:0004329	Abnormal posterior eye segment morphology	4072	EPCAM	ORPHA:92050
HP:0004329	Abnormal posterior eye segment morphology	105371045	PERCC1	ORPHA:92050
HP:0004329	Abnormal posterior eye segment morphology	54496	PRMT7	OMIM:617157
HP:0004329	Abnormal posterior eye segment morphology	1663	DDX11	OMIM:613398
HP:0004329	Abnormal posterior eye segment morphology	25836	NIPBL	OMIM:122470
HP:0004329	Abnormal posterior eye segment morphology	10653	SPINT2	OMIM:270420
HP:0004329	Abnormal posterior eye segment morphology	8295	TRRAP	OMIM:618454
HP:0004329	Abnormal posterior eye segment morphology	6608	SMO	ORPHA:1553
HP:0004329	Abnormal posterior eye segment morphology	83479	DDX59	OMIM:174300
HP:0004329	Abnormal posterior eye segment morphology	735	C9	OMIM:615591
HP:0004329	Abnormal posterior eye segment morphology	5654	HTRA1	OMIM:610149
HP:0004329	Abnormal posterior eye segment morphology	1471	CST3	OMIM:611953
HP:0004329	Abnormal posterior eye segment morphology	23078	VWA8	OMIM:620422
HP:0004329	Abnormal posterior eye segment morphology	10516	FBLN5	OMIM:608895
HP:0004329	Abnormal posterior eye segment morphology	10516	FBLN5	OMIM:619764
HP:0004329	Abnormal posterior eye segment morphology	10878	CFHR3	OMIM:603075
HP:0004329	Abnormal posterior eye segment morphology	83872	HMCN1	OMIM:603075
HP:0004329	Abnormal posterior eye segment morphology	3078	CFHR1	OMIM:603075
HP:0004329	Abnormal posterior eye segment morphology	2192	FBLN1	ORPHA:404451
HP:0004329	Abnormal posterior eye segment morphology	427	ASAH1	ORPHA:333
HP:0004329	Abnormal posterior eye segment morphology	55129	ANO10	ORPHA:284289
HP:0004329	Abnormal posterior eye segment morphology	84131	CEP78	OMIM:617236
HP:0004329	Abnormal posterior eye segment morphology	3980	LIG3	OMIM:619780
HP:0004329	Abnormal posterior eye segment morphology	2201	FBN2	OMIM:616118
HP:0004329	Abnormal posterior eye segment morphology	2077	ERF	OMIM:600775
HP:0004329	Abnormal posterior eye segment morphology	10735	STAG2	OMIM:301043
HP:0004329	Abnormal posterior eye segment morphology	3145	HMBS	OMIM:620704
HP:0004329	Abnormal posterior eye segment morphology	775	CACNA1C	OMIM:620029
HP:0004329	Abnormal posterior eye segment morphology	55605	KIF21A	ORPHA:45358
HP:0004329	Abnormal posterior eye segment morphology	347733	TUBB2B	ORPHA:45358
HP:0004329	Abnormal posterior eye segment morphology	7846	TUBA1A	ORPHA:45358
HP:0004329	Abnormal posterior eye segment morphology	7846	TUBA1A	ORPHA:171680
HP:0004329	Abnormal posterior eye segment morphology	401	PHOX2A	ORPHA:45358
HP:0004329	Abnormal posterior eye segment morphology	10381	TUBB3	ORPHA:45358
HP:0004329	Abnormal posterior eye segment morphology	10381	TUBB3	ORPHA:300570
HP:0004329	Abnormal posterior eye segment morphology	84570	COL25A1	ORPHA:45358
HP:0004329	Abnormal posterior eye segment morphology	51807	TUBA8	ORPHA:250972
HP:0004329	Abnormal posterior eye segment morphology	8854	ALDH1A2	OMIM:620025
HP:0004329	Abnormal posterior eye segment morphology	11267	SNF8	OMIM:620783
HP:0004329	Abnormal posterior eye segment morphology	256297	PTF1A	OMIM:609069
HP:0004329	Abnormal posterior eye segment morphology	256297	PTF1A	ORPHA:65288
HP:0004329	Abnormal posterior eye segment morphology	55593	OTUD5	OMIM:301056
HP:0004329	Abnormal posterior eye segment morphology	8443	GNPAT	OMIM:222765
HP:0004329	Abnormal posterior eye segment morphology	55215	FANCI	OMIM:609053
HP:0004329	Abnormal posterior eye segment morphology	10730	YME1L1	OMIM:617302
HP:0004329	Abnormal posterior eye segment morphology	23499	MACF1	ORPHA:572013
HP:0004329	Abnormal posterior eye segment morphology	387119	CEP85L	ORPHA:572013
HP:0004329	Abnormal posterior eye segment morphology	4784	NFIX	OMIM:602535
HP:0004329	Abnormal posterior eye segment morphology	10157	AASS	OMIM:238700
HP:0004329	Abnormal posterior eye segment morphology	9401	RECQL4	OMIM:218600
HP:0004329	Abnormal posterior eye segment morphology	64121	RRAGC	OMIM:620609
HP:0004329	Abnormal posterior eye segment morphology	25930	PTPN23	OMIM:618890
HP:0004329	Abnormal posterior eye segment morphology	132158	GLYCTK	OMIM:220120
HP:0004329	Abnormal posterior eye segment morphology	1974	EIF4A2	OMIM:620455
HP:0004329	Abnormal posterior eye segment morphology	26834	RNU4-2	OMIM:620851
HP:0004329	Abnormal posterior eye segment morphology	4747	NEFL	ORPHA:101085
HP:0004329	Abnormal posterior eye segment morphology	64864	RFX7	OMIM:620330
HP:0004329	Abnormal posterior eye segment morphology	8820	HESX1	OMIM:182230
HP:0004329	Abnormal posterior eye segment morphology	8820	HESX1	ORPHA:226307
HP:0004329	Abnormal posterior eye segment morphology	8820	HESX1	ORPHA:95494
HP:0004329	Abnormal posterior eye segment morphology	8820	HESX1	ORPHA:3157
HP:0004329	Abnormal posterior eye segment morphology	50801	KCNK4	OMIM:618381
HP:0004329	Abnormal posterior eye segment morphology	7025	NR2F1	ORPHA:401777
HP:0004329	Abnormal posterior eye segment morphology	23259	DDHD2	OMIM:615033
HP:0004329	Abnormal posterior eye segment morphology	5626	PROP1	ORPHA:226307
HP:0004329	Abnormal posterior eye segment morphology	5626	PROP1	ORPHA:95494
HP:0004329	Abnormal posterior eye segment morphology	89884	LHX4	ORPHA:226307
HP:0004329	Abnormal posterior eye segment morphology	89884	LHX4	ORPHA:95494
HP:0004329	Abnormal posterior eye segment morphology	8022	LHX3	ORPHA:226307
HP:0004329	Abnormal posterior eye segment morphology	5449	POU1F1	ORPHA:226307
HP:0004329	Abnormal posterior eye segment morphology	5449	POU1F1	ORPHA:95494
HP:0004329	Abnormal posterior eye segment morphology	2550	GABBR1	OMIM:620502
HP:0004329	Abnormal posterior eye segment morphology	8405	SPOP	OMIM:618828
HP:0004329	Abnormal posterior eye segment morphology	5293	PIK3CD	ORPHA:221139
HP:0004329	Abnormal posterior eye segment morphology	90417	KNSTRN	ORPHA:221139
HP:0004329	Abnormal posterior eye segment morphology	415	ARSL	ORPHA:79345
HP:0004329	Abnormal posterior eye segment morphology	2736	GLI2	OMIM:610829
HP:0004329	Abnormal posterior eye segment morphology	2736	GLI2	ORPHA:95494
HP:0004329	Abnormal posterior eye segment morphology	55210	ATAD3A	ORPHA:496790
HP:0004329	Abnormal posterior eye segment morphology	57459	GATAD2B	ORPHA:363686
HP:0004329	Abnormal posterior eye segment morphology	3170	FOXA2	ORPHA:95494
HP:0004329	Abnormal posterior eye segment morphology	5605	MAP2K2	OMIM:615280
HP:0004329	Abnormal posterior eye segment morphology	2222	FDFT1	OMIM:618156
HP:0004329	Abnormal posterior eye segment morphology	29123	ANKRD11	ORPHA:261250
HP:0004329	Abnormal posterior eye segment morphology	2893	GRIA4	OMIM:617864
HP:0004329	Abnormal posterior eye segment morphology	5500	PPP1CB	OMIM:617506
HP:0004329	Abnormal posterior eye segment morphology	4208	MEF2C	ORPHA:228384
HP:0004329	Abnormal posterior eye segment morphology	440	ASNS	OMIM:615574
HP:0004329	Abnormal posterior eye segment morphology	6651	SON	ORPHA:500150
HP:0004329	Abnormal posterior eye segment morphology	51360	MBTPS2	ORPHA:85284
HP:0004329	Abnormal posterior eye segment morphology	9928	KIF14	OMIM:617914
HP:0004329	Abnormal posterior eye segment morphology	7545	ZIC1	OMIM:618736
HP:0004329	Abnormal posterior eye segment morphology	5518	PPP2R1A	ORPHA:457284
HP:0004329	Abnormal posterior eye segment morphology	128674	PROKR2	ORPHA:3157
HP:0004329	Abnormal posterior eye segment morphology	6658	SOX3	ORPHA:3157
HP:0004329	Abnormal posterior eye segment morphology	9915	ARNT2	ORPHA:3157
HP:0004329	Abnormal posterior eye segment morphology	3105	HLA-A	ORPHA:179
HP:0004329	Abnormal posterior eye segment morphology	8842	PROM1	ORPHA:827
HP:0004329	Abnormal posterior eye segment morphology	5961	PRPH2	ORPHA:827
HP:0004329	Abnormal posterior eye segment morphology	6785	ELOVL4	ORPHA:827
HP:0004329	Abnormal posterior eye segment morphology	24	ABCA4	ORPHA:827
HP:0004329	Abnormal posterior eye segment morphology	54714	CNGB3	ORPHA:827
HP:0004329	Abnormal posterior eye segment morphology	7078	TIMP3	ORPHA:59181
HP:0004329	Abnormal posterior eye segment morphology	23418	CRB1	ORPHA:35612
HP:0004329	Abnormal posterior eye segment morphology	7439	BEST1	ORPHA:35612
HP:0004329	Abnormal posterior eye segment morphology	26022	TMEM98	ORPHA:35612
HP:0004329	Abnormal posterior eye segment morphology	6657	SOX2	ORPHA:35612
HP:0004329	Abnormal posterior eye segment morphology	220	ALDH1A3	ORPHA:35612
HP:0004329	Abnormal posterior eye segment morphology	646960	PRSS56	ORPHA:35612
HP:0004329	Abnormal posterior eye segment morphology	83552	MFRP	ORPHA:35612
HP:0004329	Abnormal posterior eye segment morphology	30062	RAX	ORPHA:35612
HP:0004329	Abnormal posterior eye segment morphology	5015	OTX2	ORPHA:35612
HP:0004329	Abnormal posterior eye segment morphology	4990	SIX6	ORPHA:35612
HP:0004329	Abnormal posterior eye segment morphology	6017	RLBP1	ORPHA:85128
HP:0004329	Abnormal posterior eye segment morphology	4763	NF1	ORPHA:97685
HP:0004329	Abnormal posterior eye segment morphology	1188	CLCNKB	OMIM:607364
HP:0004329	Abnormal posterior eye segment morphology	4524	MTHFR	ORPHA:395
HP:0004329	Abnormal posterior eye segment morphology	55703	POLR3B	OMIM:614381
HP:0004329	Abnormal posterior eye segment morphology	55703	POLR3B	OMIM:607694
HP:0004329	Abnormal posterior eye segment morphology	10617	STAMBP	OMIM:614261
HP:0004329	Abnormal posterior eye segment morphology	26235	FBXL4	OMIM:615471
HP:0004329	Abnormal posterior eye segment morphology	4099	MAG	OMIM:616680
HP:0004329	Abnormal posterior eye segment morphology	51256	TBC1D7	OMIM:248000
HP:0004329	Abnormal posterior eye segment morphology	1763	DNA2	OMIM:620819
HP:0004329	Abnormal posterior eye segment morphology	55823	VPS11	OMIM:616683
HP:0004329	Abnormal posterior eye segment morphology	55823	VPS11	ORPHA:466934
HP:0004329	Abnormal posterior eye segment morphology	27247	NFU1	OMIM:620938
HP:0004329	Abnormal posterior eye segment morphology	23446	SLC44A1	OMIM:618868
HP:0004329	Abnormal posterior eye segment morphology	8518	ELP1	ORPHA:1764
HP:0004329	Abnormal posterior eye segment morphology	201595	STT3B	OMIM:615597
HP:0004329	Abnormal posterior eye segment morphology	201595	STT3B	ORPHA:370924
HP:0004329	Abnormal posterior eye segment morphology	2720	GLB1	OMIM:230600
HP:0004329	Abnormal posterior eye segment morphology	1786	DNMT1	ORPHA:314404
HP:0004329	Abnormal posterior eye segment morphology	1786	DNMT1	OMIM:604121
HP:0004329	Abnormal posterior eye segment morphology	84942	WDR73	OMIM:251300
HP:0004329	Abnormal posterior eye segment morphology	84942	WDR73	ORPHA:83472
HP:0004329	Abnormal posterior eye segment morphology	1736	DKC1	OMIM:305000
HP:0004329	Abnormal posterior eye segment morphology	1729	DIAPH1	ORPHA:477814
HP:0004329	Abnormal posterior eye segment morphology	1729	DIAPH1	OMIM:616632
HP:0004329	Abnormal posterior eye segment morphology	5354	PLP1	ORPHA:99015
HP:0004329	Abnormal posterior eye segment morphology	5354	PLP1	ORPHA:280234
HP:0004329	Abnormal posterior eye segment morphology	5354	PLP1	OMIM:312080
HP:0004329	Abnormal posterior eye segment morphology	5354	PLP1	OMIM:312920
HP:0004329	Abnormal posterior eye segment morphology	57165	GJC2	OMIM:608804
HP:0004329	Abnormal posterior eye segment morphology	65993	MRPS34	OMIM:617664
HP:0004329	Abnormal posterior eye segment morphology	6536	SLC6A9	OMIM:617301
HP:0004329	Abnormal posterior eye segment morphology	200205	IBA57	OMIM:616451
HP:0004329	Abnormal posterior eye segment morphology	200205	IBA57	ORPHA:468661
HP:0004329	Abnormal posterior eye segment morphology	200205	IBA57	OMIM:615330
HP:0004329	Abnormal posterior eye segment morphology	51112	TRAPPC12	OMIM:617669
HP:0004329	Abnormal posterior eye segment morphology	51112	TRAPPC12	ORPHA:500144
HP:0004329	Abnormal posterior eye segment morphology	50964	SOST	ORPHA:1513
HP:0004329	Abnormal posterior eye segment morphology	50964	SOST	OMIM:122860
HP:0004329	Abnormal posterior eye segment morphology	50964	SOST	ORPHA:3152
HP:0004329	Abnormal posterior eye segment morphology	50964	SOST	OMIM:269500
HP:0004329	Abnormal posterior eye segment morphology	121340	SP7	ORPHA:1513
HP:0004329	Abnormal posterior eye segment morphology	6660	SOX5	ORPHA:313892
HP:0004329	Abnormal posterior eye segment morphology	6660	SOX5	OMIM:616803
HP:0004329	Abnormal posterior eye segment morphology	410	ARSA	ORPHA:309271
HP:0004329	Abnormal posterior eye segment morphology	410	ARSA	ORPHA:309263
HP:0004329	Abnormal posterior eye segment morphology	410	ARSA	OMIM:250100
HP:0004329	Abnormal posterior eye segment morphology	410	ARSA	ORPHA:309256
HP:0004329	Abnormal posterior eye segment morphology	5660	PSAP	ORPHA:309271
HP:0004329	Abnormal posterior eye segment morphology	5660	PSAP	ORPHA:309263
HP:0004329	Abnormal posterior eye segment morphology	5660	PSAP	OMIM:611721
HP:0004329	Abnormal posterior eye segment morphology	5660	PSAP	ORPHA:309256
HP:0004329	Abnormal posterior eye segment morphology	5660	PSAP	ORPHA:206436
HP:0004329	Abnormal posterior eye segment morphology	7345	UCHL1	OMIM:615491
HP:0004329	Abnormal posterior eye segment morphology	7345	UCHL1	OMIM:620221
HP:0004329	Abnormal posterior eye segment morphology	284058	KANSL1	ORPHA:363958
HP:0004329	Abnormal posterior eye segment morphology	284058	KANSL1	ORPHA:363965
HP:0004329	Abnormal posterior eye segment morphology	5105	PCK1	OMIM:261680
HP:0004329	Abnormal posterior eye segment morphology	56172	ANKH	OMIM:123000
HP:0004329	Abnormal posterior eye segment morphology	7994	KAT6A	ORPHA:457193
HP:0004329	Abnormal posterior eye segment morphology	7994	KAT6A	OMIM:616268
HP:0004329	Abnormal posterior eye segment morphology	9326	ZNHIT3	ORPHA:2836
HP:0004329	Abnormal posterior eye segment morphology	9326	ZNHIT3	OMIM:260565
HP:0004329	Abnormal posterior eye segment morphology	55681	SCYL2	OMIM:618766
HP:0004329	Abnormal posterior eye segment morphology	2697	GJA1	ORPHA:2710
HP:0004329	Abnormal posterior eye segment morphology	2697	GJA1	OMIM:218400
HP:0004329	Abnormal posterior eye segment morphology	55149	MTPAP	ORPHA:254343
HP:0004329	Abnormal posterior eye segment morphology	55149	MTPAP	OMIM:613672
HP:0004329	Abnormal posterior eye segment morphology	10484	SEC23A	OMIM:607812
HP:0004329	Abnormal posterior eye segment morphology	22872	SEC31A	OMIM:618651
HP:0004329	Abnormal posterior eye segment morphology	83636	C19orf12	OMIM:614298
HP:0004329	Abnormal posterior eye segment morphology	83636	C19orf12	OMIM:615043
HP:0004329	Abnormal posterior eye segment morphology	5833	PCYT2	OMIM:618770
HP:0004329	Abnormal posterior eye segment morphology	388962	BOLA3	OMIM:614299
HP:0004329	Abnormal posterior eye segment morphology	79731	NARS2	OMIM:616239
HP:0004329	Abnormal posterior eye segment morphology	6905	TBCE	OMIM:617207
HP:0004329	Abnormal posterior eye segment morphology	6905	TBCE	ORPHA:496756
HP:0004329	Abnormal posterior eye segment morphology	8241	RBM10	OMIM:311900
HP:0004329	Abnormal posterior eye segment morphology	8241	RBM10	ORPHA:2886
HP:0004329	Abnormal posterior eye segment morphology	27125	AFF4	OMIM:616368
HP:0004329	Abnormal posterior eye segment morphology	92609	TIMM50	OMIM:617698
HP:0004329	Abnormal posterior eye segment morphology	92609	TIMM50	ORPHA:505216
HP:0004329	Abnormal posterior eye segment morphology	51692	CPSF3	OMIM:619876
HP:0004329	Abnormal posterior eye segment morphology	150468	CKAP2L	OMIM:272440
HP:0004329	Abnormal posterior eye segment morphology	150468	CKAP2L	ORPHA:3255
HP:0004329	Abnormal posterior eye segment morphology	8818	DPM2	OMIM:615042
HP:0004329	Abnormal posterior eye segment morphology	8818	DPM2	ORPHA:329178
HP:0004329	Abnormal posterior eye segment morphology	122961	ISCA2	OMIM:616370
HP:0004329	Abnormal posterior eye segment morphology	8733	GPAA1	ORPHA:529665
HP:0004329	Abnormal posterior eye segment morphology	8733	GPAA1	OMIM:617810
HP:0004329	Abnormal posterior eye segment morphology	4849	CNOT3	OMIM:618672
HP:0004329	Abnormal posterior eye segment morphology	9562	MINPP1	OMIM:619527
HP:0004329	Abnormal posterior eye segment morphology	9562	MINPP1	ORPHA:284339
HP:0004329	Abnormal posterior eye segment morphology	7841	MOGS	ORPHA:79330
HP:0004329	Abnormal posterior eye segment morphology	7841	MOGS	OMIM:606056
HP:0004329	Abnormal posterior eye segment morphology	5981	RFC1	ORPHA:504476
HP:0004329	Abnormal posterior eye segment morphology	197258	FCSK	OMIM:618324
HP:0004329	Abnormal posterior eye segment morphology	2395	FXN	OMIM:229300
HP:0004329	Abnormal posterior eye segment morphology	2395	FXN	ORPHA:95
HP:0004329	Abnormal posterior eye segment morphology	10463	SLC30A9	OMIM:617595
HP:0004329	Abnormal posterior eye segment morphology	125988	MICOS13	OMIM:618329
HP:0004329	Abnormal posterior eye segment morphology	84168	ANTXR1	OMIM:230740
HP:0004329	Abnormal posterior eye segment morphology	84168	ANTXR1	ORPHA:2067
HP:0004329	Abnormal posterior eye segment morphology	9725	TMEM63A	OMIM:618688
HP:0004329	Abnormal posterior eye segment morphology	9526	MPDU1	ORPHA:79323
HP:0004329	Abnormal posterior eye segment morphology	9526	MPDU1	OMIM:609180
HP:0004329	Abnormal posterior eye segment morphology	1967	EIF2B1	OMIM:603896
HP:0004329	Abnormal posterior eye segment morphology	10195	ALG3	OMIM:601110
HP:0004329	Abnormal posterior eye segment morphology	91137	SLC25A46	OMIM:619303
HP:0004329	Abnormal posterior eye segment morphology	91137	SLC25A46	ORPHA:2254
HP:0004329	Abnormal posterior eye segment morphology	91137	SLC25A46	OMIM:616505
HP:0004329	Abnormal posterior eye segment morphology	133686	NADK2	OMIM:616034
HP:0004329	Abnormal posterior eye segment morphology	55656	INTS8	OMIM:618572
HP:0004329	Abnormal posterior eye segment morphology	11232	POLG2	OMIM:619425
HP:0004329	Abnormal posterior eye segment morphology	835	CASP2	OMIM:620653
HP:0004329	Abnormal posterior eye segment morphology	9900	SV2A	OMIM:620772
HP:0004329	Abnormal posterior eye segment morphology	4594	MMUT	ORPHA:79312
HP:0004329	Abnormal posterior eye segment morphology	4594	MMUT	ORPHA:289916
HP:0004329	Abnormal posterior eye segment morphology	7291	TWIST1	ORPHA:794
HP:0004329	Abnormal posterior eye segment morphology	2261	FGFR3	ORPHA:794
HP:0004329	Abnormal posterior eye segment morphology	2261	FGFR3	ORPHA:93262
HP:0004329	Abnormal posterior eye segment morphology	4549	MT-RNR1	ORPHA:551
HP:0004329	Abnormal posterior eye segment morphology	4571	MT-TP	ORPHA:551
HP:0004329	Abnormal posterior eye segment morphology	3912	LAMB1	OMIM:615191
HP:0004329	Abnormal posterior eye segment morphology	3912	LAMB1	ORPHA:352682
HP:0004329	Abnormal posterior eye segment morphology	10785	WDR4	OMIM:618346
HP:0004329	Abnormal posterior eye segment morphology	160418	TMTC3	OMIM:617255
HP:0004329	Abnormal posterior eye segment morphology	51728	POLR3K	OMIM:619310
HP:0004329	Abnormal posterior eye segment morphology	846	CASR	ORPHA:428
HP:0004329	Abnormal posterior eye segment morphology	23345	SYNE1	OMIM:610743
HP:0004329	Abnormal posterior eye segment morphology	128869	PIGU	OMIM:618590
HP:0004329	Abnormal posterior eye segment morphology	81790	RNF170	OMIM:619686
HP:0004329	Abnormal posterior eye segment morphology	23102	TBC1D2B	OMIM:619323
HP:0004329	Abnormal posterior eye segment morphology	1436	CSF1R	OMIM:618476
HP:0004329	Abnormal posterior eye segment morphology	26610	ELP4	OMIM:617141
HP:0004329	Abnormal posterior eye segment morphology	79868	ALG13	OMIM:300884
HP:0004329	Abnormal posterior eye segment morphology	10978	CLP1	ORPHA:411493
HP:0004329	Abnormal posterior eye segment morphology	8890	EIF2B4	OMIM:620314
HP:0004329	Abnormal posterior eye segment morphology	11152	WDR45	ORPHA:329284
HP:0004329	Abnormal posterior eye segment morphology	25885	POLR1A	OMIM:620675
HP:0004329	Abnormal posterior eye segment morphology	8892	EIF2B2	OMIM:620312
HP:0004329	Abnormal posterior eye segment morphology	154881	KCTD7	OMIM:611726
HP:0004329	Abnormal posterior eye segment morphology	154881	KCTD7	ORPHA:263516
HP:0004329	Abnormal posterior eye segment morphology	79944	L2HGDH	OMIM:236792
HP:0004329	Abnormal posterior eye segment morphology	8869	ST3GAL5	OMIM:609056
HP:0004329	Abnormal posterior eye segment morphology	6904	TBCD	ORPHA:496641
HP:0004329	Abnormal posterior eye segment morphology	6904	TBCD	OMIM:617193
HP:0004329	Abnormal posterior eye segment morphology	5934	RBL2	OMIM:619690
HP:0004329	Abnormal posterior eye segment morphology	56915	EXOSC5	OMIM:619576
HP:0004329	Abnormal posterior eye segment morphology	549	AUH	OMIM:250950
HP:0004329	Abnormal posterior eye segment morphology	1312	COMT	ORPHA:567
HP:0004329	Abnormal posterior eye segment morphology	221037	JMJD1C	ORPHA:567
HP:0004329	Abnormal posterior eye segment morphology	2812	GP1BB	ORPHA:567
HP:0004329	Abnormal posterior eye segment morphology	6239	RREB1	ORPHA:567
HP:0004329	Abnormal posterior eye segment morphology	7290	HIRA	ORPHA:567
HP:0004329	Abnormal posterior eye segment morphology	9632	SEC24C	ORPHA:567
HP:0004329	Abnormal posterior eye segment morphology	7353	UFD1	ORPHA:567
HP:0004329	Abnormal posterior eye segment morphology	421	ARVCF	ORPHA:567
HP:0004329	Abnormal posterior eye segment morphology	2717	GLA	ORPHA:324
HP:0004329	Abnormal posterior eye segment morphology	112812	FDX2	OMIM:251900
HP:0004329	Abnormal posterior eye segment morphology	23258	DENND5A	OMIM:617281
HP:0004329	Abnormal posterior eye segment morphology	27316	RBMX	OMIM:309555
HP:0004329	Abnormal posterior eye segment morphology	9758	FRMPD4	OMIM:300983
HP:0004329	Abnormal posterior eye segment morphology	54681	P4HTM	OMIM:618493
HP:0004329	Abnormal posterior eye segment morphology	5573	PRKAR1A	OMIM:101800
HP:0004329	Abnormal posterior eye segment morphology	64374	SIL1	ORPHA:559
HP:0004329	Abnormal posterior eye segment morphology	60386	SLC25A19	ORPHA:99742
HP:0004329	Abnormal posterior eye segment morphology	60386	SLC25A19	OMIM:607196
HP:0004329	Abnormal posterior eye segment morphology	79736	TEFM	OMIM:620451
HP:0004329	Abnormal posterior eye segment morphology	84065	TMEM222	OMIM:619470
HP:0004329	Abnormal posterior eye segment morphology	29926	GMPPA	ORPHA:869
HP:0004329	Abnormal posterior eye segment morphology	60684	TRAPPC11	ORPHA:869
HP:0004329	Abnormal posterior eye segment morphology	8086	AAAS	ORPHA:869
HP:0004329	Abnormal posterior eye segment morphology	8086	AAAS	OMIM:231550
HP:0004329	Abnormal posterior eye segment morphology	526	ATP6V1B2	ORPHA:79500
HP:0004329	Abnormal posterior eye segment morphology	57465	TBC1D24	ORPHA:79500
HP:0004329	Abnormal posterior eye segment morphology	57465	TBC1D24	ORPHA:352596
HP:0004329	Abnormal posterior eye segment morphology	57465	TBC1D24	OMIM:220500
HP:0004329	Abnormal posterior eye segment morphology	57465	TBC1D24	OMIM:615338
HP:0004329	Abnormal posterior eye segment morphology	22978	NT5C2	ORPHA:320396
HP:0004329	Abnormal posterior eye segment morphology	22978	NT5C2	OMIM:613162
HP:0004329	Abnormal posterior eye segment morphology	100147744	RNU7-1	OMIM:619487
HP:0004329	Abnormal posterior eye segment morphology	51715	RAB23	OMIM:201000
HP:0004329	Abnormal posterior eye segment morphology	79152	FA2H	ORPHA:171629
HP:0004329	Abnormal posterior eye segment morphology	79152	FA2H	ORPHA:329308
HP:0004329	Abnormal posterior eye segment morphology	79152	FA2H	OMIM:612319
HP:0004329	Abnormal posterior eye segment morphology	9373	PLAA	ORPHA:521426
HP:0004329	Abnormal posterior eye segment morphology	9373	PLAA	OMIM:617527
HP:0004329	Abnormal posterior eye segment morphology	23516	SLC39A14	OMIM:144755
HP:0004329	Abnormal posterior eye segment morphology	23636	NUP62	ORPHA:225154
HP:0004329	Abnormal posterior eye segment morphology	23636	NUP62	OMIM:271930
HP:0004329	Abnormal posterior eye segment morphology	53371	NUP54	ORPHA:225154
HP:0004329	Abnormal posterior eye segment morphology	103	ADAR	ORPHA:225154
HP:0004329	Abnormal posterior eye segment morphology	84231	TRAF7	OMIM:618164
HP:0004329	Abnormal posterior eye segment morphology	4668	NAGA	OMIM:609241
HP:0004329	Abnormal posterior eye segment morphology	4668	NAGA	ORPHA:79279
HP:0004329	Abnormal posterior eye segment morphology	131118	DNAJC19	ORPHA:66634
HP:0004329	Abnormal posterior eye segment morphology	131118	DNAJC19	OMIM:610198
HP:0004329	Abnormal posterior eye segment morphology	51594	NBAS	OMIM:614800
HP:0004329	Abnormal posterior eye segment morphology	11043	MID2	OMIM:300928
HP:0004329	Abnormal posterior eye segment morphology	2581	GALC	ORPHA:206436
HP:0004329	Abnormal posterior eye segment morphology	2581	GALC	OMIM:245200
HP:0004329	Abnormal posterior eye segment morphology	1678	TIMM8A	ORPHA:52368
HP:0004329	Abnormal posterior eye segment morphology	129285	PPP1R21	OMIM:619383
HP:0004329	Abnormal posterior eye segment morphology	114034	TOE1	ORPHA:284339
HP:0004329	Abnormal posterior eye segment morphology	114034	TOE1	OMIM:614969
HP:0004329	Abnormal posterior eye segment morphology	4038	LRP4	ORPHA:3152
HP:0004329	Abnormal posterior eye segment morphology	1496	CTNNA2	OMIM:618174
HP:0004329	Abnormal posterior eye segment morphology	8398	PLA2G6	OMIM:610217
HP:0004329	Abnormal posterior eye segment morphology	8398	PLA2G6	ORPHA:35069
HP:0004329	Abnormal posterior eye segment morphology	8398	PLA2G6	OMIM:256600
HP:0004329	Abnormal posterior eye segment morphology	10134	BCAP31	OMIM:300475
HP:0004329	Abnormal posterior eye segment morphology	10134	BCAP31	ORPHA:369939
HP:0004329	Abnormal posterior eye segment morphology	25821	MTO1	OMIM:614702
HP:0004329	Abnormal posterior eye segment morphology	79581	SLC52A2	OMIM:614707
HP:0004329	Abnormal posterior eye segment morphology	51218	GLRX5	ORPHA:401866
HP:0004329	Abnormal posterior eye segment morphology	51218	GLRX5	OMIM:616859
HP:0004329	Abnormal posterior eye segment morphology	170302	ARX	OMIM:300004
HP:0004329	Abnormal posterior eye segment morphology	9640	ZNF592	ORPHA:83472
HP:0004329	Abnormal posterior eye segment morphology	1717	DHCR7	ORPHA:818
HP:0004329	Abnormal posterior eye segment morphology	2475	MTOR	ORPHA:99802
HP:0004329	Abnormal posterior eye segment morphology	10000	AKT3	ORPHA:99802
HP:0004329	Abnormal posterior eye segment morphology	271	AMPD2	OMIM:615809
HP:0004329	Abnormal posterior eye segment morphology	51204	TACO1	OMIM:619052
HP:0004329	Abnormal posterior eye segment morphology	55037	PTCD3	OMIM:619057
HP:0004329	Abnormal posterior eye segment morphology	1757	SARDH	ORPHA:3129
HP:0004329	Abnormal posterior eye segment morphology	1716	DGUOK	ORPHA:329314
HP:0004329	Abnormal posterior eye segment morphology	55157	DARS2	ORPHA:137898
HP:0004329	Abnormal posterior eye segment morphology	10367	MICU1	ORPHA:401768
HP:0004329	Abnormal posterior eye segment morphology	10367	MICU1	OMIM:615673
HP:0004329	Abnormal posterior eye segment morphology	10382	TUBB4A	OMIM:612438
HP:0004329	Abnormal posterior eye segment morphology	84947	SERAC1	OMIM:614739
HP:0004329	Abnormal posterior eye segment morphology	11340	EXOSC8	ORPHA:2254
HP:0004329	Abnormal posterior eye segment morphology	5393	EXOSC9	ORPHA:2254
HP:0004329	Abnormal posterior eye segment morphology	23287	AGTPBP1	ORPHA:2254
HP:0004329	Abnormal posterior eye segment morphology	7443	VRK1	ORPHA:2254
HP:0004329	Abnormal posterior eye segment morphology	8050	PDHX	OMIM:245349
HP:0004329	Abnormal posterior eye segment morphology	4256	MGP	ORPHA:85202
HP:0004329	Abnormal posterior eye segment morphology	471	ATIC	OMIM:608688
HP:0004329	Abnormal posterior eye segment morphology	23065	EMC1	ORPHA:480898
HP:0004329	Abnormal posterior eye segment morphology	23065	EMC1	OMIM:616875
HP:0004329	Abnormal posterior eye segment morphology	55275	VPS53	OMIM:615851
HP:0004329	Abnormal posterior eye segment morphology	50628	GEMIN4	OMIM:617913
HP:0004329	Abnormal posterior eye segment morphology	283989	TSEN54	OMIM:277470
HP:0004329	Abnormal posterior eye segment morphology	81846	SBF2	ORPHA:99956
HP:0004329	Abnormal posterior eye segment morphology	92154	MTSS2	OMIM:620086
HP:0004329	Abnormal posterior eye segment morphology	23590	PDSS1	OMIM:614651
HP:0004329	Abnormal posterior eye segment morphology	8216	LZTR1	OMIM:605275
HP:0004329	Abnormal posterior eye segment morphology	9230	RAB11B	OMIM:617807
HP:0004329	Abnormal posterior eye segment morphology	7507	XPA	ORPHA:910
HP:0004329	Abnormal posterior eye segment morphology	7508	XPC	ORPHA:910
HP:0004329	Abnormal posterior eye segment morphology	1643	DDB2	ORPHA:910
HP:0004329	Abnormal posterior eye segment morphology	10075	HUWE1	OMIM:309590
HP:0004329	Abnormal posterior eye segment morphology	53616	ADAM22	OMIM:617933
HP:0004329	Abnormal posterior eye segment morphology	7473	WNT3	ORPHA:3301
HP:0004329	Abnormal posterior eye segment morphology	340419	RSPO2	ORPHA:3301
HP:0004329	Abnormal posterior eye segment morphology	9496	TBX4	ORPHA:3301
HP:0004329	Abnormal posterior eye segment morphology	1806	DPYD	OMIM:274270
HP:0004329	Abnormal posterior eye segment morphology	998	CDC42	OMIM:616737
HP:0004329	Abnormal posterior eye segment morphology	998	CDC42	ORPHA:487796
HP:0004329	Abnormal posterior eye segment morphology	10342	TFG	ORPHA:431329
HP:0004329	Abnormal posterior eye segment morphology	10342	TFG	OMIM:615658
HP:0004329	Abnormal posterior eye segment morphology	9512	PMPCB	OMIM:617954
HP:0004329	Abnormal posterior eye segment morphology	2058	EPRS1	OMIM:617951
HP:0004329	Abnormal posterior eye segment morphology	54974	THG1L	OMIM:618800
HP:0004329	Abnormal posterior eye segment morphology	5604	MAP2K1	ORPHA:1340
HP:0004329	Abnormal posterior eye segment morphology	259232	NALCN	OMIM:615419
HP:0004329	Abnormal posterior eye segment morphology	128989	TANGO2	ORPHA:480864
HP:0004329	Abnormal posterior eye segment morphology	128989	TANGO2	OMIM:616878
HP:0004329	Abnormal posterior eye segment morphology	64093	SMOC1	ORPHA:1106
HP:0004329	Abnormal posterior eye segment morphology	9420	CYP7B1	OMIM:270800
HP:0004329	Abnormal posterior eye segment morphology	57511	COG6	OMIM:614576
HP:0004329	Abnormal posterior eye segment morphology	57572	DOCK6	OMIM:614219
HP:0004329	Abnormal posterior eye segment morphology	51501	HIKESHI	OMIM:616881
HP:0004329	Abnormal posterior eye segment morphology	22934	RPIA	OMIM:608611
HP:0004329	Abnormal posterior eye segment morphology	51124	IER3IP1	OMIM:614231
HP:0004329	Abnormal posterior eye segment morphology	51816	ADA2	OMIM:615688
HP:0004329	Abnormal posterior eye segment morphology	55704	CCDC88A	OMIM:617507
HP:0004329	Abnormal posterior eye segment morphology	54676	GTPBP2	OMIM:617988
HP:0004329	Abnormal posterior eye segment morphology	387	RHOA	OMIM:618727
HP:0004329	Abnormal posterior eye segment morphology	55315	SLC29A3	ORPHA:1782
HP:0004329	Abnormal posterior eye segment morphology	57410	SCYL1	ORPHA:466794
HP:0004329	Abnormal posterior eye segment morphology	35	ACADS	ORPHA:26792
HP:0004329	Abnormal posterior eye segment morphology	10844	TUBGCP2	OMIM:618737
HP:0004329	Abnormal posterior eye segment morphology	547	KIF1A	OMIM:614255
HP:0004329	Abnormal posterior eye segment morphology	221927	BRAT1	OMIM:614498
HP:0004329	Abnormal posterior eye segment morphology	55753	OGDHL	OMIM:619701
HP:0004329	Abnormal posterior eye segment morphology	5297	PI4KA	OMIM:619708
HP:0004329	Abnormal posterior eye segment morphology	344	APOC2	OMIM:207750
HP:0004329	Abnormal posterior eye segment morphology	2538	G6PC1	OMIM:232200
HP:0004329	Abnormal posterior eye segment morphology	338328	GPIHBP1	OMIM:615947
HP:0004329	Abnormal posterior eye segment morphology	4023	LPL	OMIM:238600
HP:0004329	Abnormal posterior eye segment morphology	2542	SLC37A4	OMIM:232220
HP:0004329	Abnormal posterior eye segment morphology	2629	GBA1	ORPHA:2072
HP:0004329	Abnormal posterior eye segment morphology	3590	IL11RA	OMIM:614188
HP:0004329	Abnormal posterior eye segment morphology	6598	SMARCB1	ORPHA:2495
HP:0004329	Abnormal posterior eye segment morphology	5155	PDGFB	ORPHA:2495
HP:0004329	Abnormal posterior eye segment morphology	51684	SUFU	ORPHA:2495
HP:0004329	Abnormal posterior eye segment morphology	6605	SMARCE1	ORPHA:2495
HP:0004329	Abnormal posterior eye segment morphology	6522	SLC4A2	OMIM:620366
HP:0004329	Abnormal posterior eye segment morphology	158326	FREM1	ORPHA:3366
HP:0004329	Abnormal posterior eye segment morphology	4313	MMP2	ORPHA:371428
HP:0004329	Abnormal posterior eye segment morphology	4323	MMP14	ORPHA:371428
HP:0004329	Abnormal posterior eye segment morphology	7386	UQCRFS1	OMIM:618775
HP:0004329	Abnormal posterior eye segment morphology	673	BRAF	OMIM:115150
HP:0004329	Abnormal posterior eye segment morphology	27151	CPAMD8	OMIM:617319
HP:0004329	Abnormal posterior eye segment morphology	57498	KIDINS220	OMIM:617296
HP:0004329	Abnormal posterior eye segment morphology	3291	HSD11B2	ORPHA:320
HP:0004329	Abnormal posterior eye segment morphology	3291	HSD11B2	OMIM:218030
HP:0004329	Abnormal posterior eye segment morphology	55654	TMEM127	OMIM:171300
HP:0004329	Abnormal posterior eye segment morphology	55654	TMEM127	ORPHA:29072
HP:0004329	Abnormal posterior eye segment morphology	5979	RET	OMIM:171300
HP:0004329	Abnormal posterior eye segment morphology	5979	RET	ORPHA:29072
HP:0004329	Abnormal posterior eye segment morphology	5979	RET	ORPHA:276621
HP:0004329	Abnormal posterior eye segment morphology	1743	DLST	ORPHA:29072
HP:0004329	Abnormal posterior eye segment morphology	23095	KIF1B	ORPHA:29072
HP:0004329	Abnormal posterior eye segment morphology	2271	FH	ORPHA:29072
HP:0004329	Abnormal posterior eye segment morphology	8402	SLC25A11	ORPHA:29072
HP:0004329	Abnormal posterior eye segment morphology	54949	SDHAF2	ORPHA:29072
HP:0004329	Abnormal posterior eye segment morphology	6391	SDHC	ORPHA:29072
HP:0004329	Abnormal posterior eye segment morphology	1788	DNMT3A	ORPHA:276621
HP:0004329	Abnormal posterior eye segment morphology	2034	EPAS1	ORPHA:276621
HP:0004329	Abnormal posterior eye segment morphology	220074	LRTOMT	OMIM:611451
HP:0004329	Abnormal posterior eye segment morphology	222662	LHFPL5	OMIM:610265
HP:0004329	Abnormal posterior eye segment morphology	2677	GGCX	ORPHA:436274
HP:0004329	Abnormal posterior eye segment morphology	283652	SLC24A5	ORPHA:370097
HP:0004329	Abnormal posterior eye segment morphology	23262	PPIP5K2	OMIM:618422
HP:0004329	Abnormal posterior eye segment morphology	9997	SCO2	OMIM:608908
HP:0004329	Abnormal posterior eye segment morphology	8314	BAP1	ORPHA:39044
HP:0004329	Abnormal posterior eye segment morphology	57105	CYSLTR2	ORPHA:39044
HP:0004329	Abnormal posterior eye segment morphology	2776	GNAQ	ORPHA:39044
HP:0004329	Abnormal posterior eye segment morphology	2767	GNA11	ORPHA:39044
HP:0004329	Abnormal posterior eye segment morphology	23451	SF3B1	ORPHA:39044
HP:0004329	Abnormal posterior eye segment morphology	6314	ATXN7	ORPHA:94147
HP:0004329	Abnormal posterior eye segment morphology	5158	PDE6B	OMIM:163500
HP:0004329	Abnormal posterior eye segment morphology	3000	GUCY2D	OMIM:204000
HP:0004329	Abnormal posterior eye segment morphology	6121	RPE65	OMIM:204100
HP:0004329	Abnormal posterior eye segment morphology	388939	PCARE	OMIM:613428
HP:0004329	Abnormal posterior eye segment morphology	114902	C1QTNF5	ORPHA:67042
HP:0004329	Abnormal posterior eye segment morphology	6102	RP2	OMIM:312600
HP:0004329	Abnormal posterior eye segment morphology	2591	GALNT3	OMIM:211900
HP:0004329	Abnormal posterior eye segment morphology	5290	PIK3CA	OMIM:615108
HP:0004329	Abnormal posterior eye segment morphology	207	AKT1	OMIM:615109
HP:0004329	Abnormal posterior eye segment morphology	6609	SMPD1	OMIM:607616
HP:0004329	Abnormal posterior eye segment morphology	22926	ATF6	ORPHA:49382
HP:0004329	Abnormal posterior eye segment morphology	5146	PDE6C	ORPHA:49382
HP:0004329	Abnormal posterior eye segment morphology	5149	PDE6H	ORPHA:49382
HP:0004329	Abnormal posterior eye segment morphology	2780	GNAT2	ORPHA:49382
HP:0004329	Abnormal posterior eye segment morphology	1261	CNGA3	ORPHA:49382
HP:0004329	Abnormal posterior eye segment morphology	324	APC	ORPHA:99818
HP:0004329	Abnormal posterior eye segment morphology	1908	EDN3	ORPHA:897
HP:0004329	Abnormal posterior eye segment morphology	1910	EDNRB	ORPHA:897
HP:0004329	Abnormal posterior eye segment morphology	9382	COG1	ORPHA:263508
HP:0004329	Abnormal posterior eye segment morphology	4942	OAT	ORPHA:414
HP:0004329	Abnormal posterior eye segment morphology	10682	EBP	OMIM:300960
HP:0004329	Abnormal posterior eye segment morphology	406987	MIR204	OMIM:616722
HP:0004329	Abnormal posterior eye segment morphology	10273	STUB1	ORPHA:412057
HP:0004329	Abnormal posterior eye segment morphology	1509	CTSD	OMIM:610127
HP:0004329	Abnormal posterior eye segment morphology	51095	TRNT1	OMIM:616959
HP:0004329	Abnormal posterior eye segment morphology	63915	BLOC1S5	OMIM:619172
HP:0004329	Abnormal posterior eye segment morphology	57724	EPG5	OMIM:242840
HP:0004329	Abnormal posterior eye segment morphology	8943	AP3D1	OMIM:617050
HP:0004329	Abnormal posterior eye segment morphology	8943	AP3D1	ORPHA:1000
HP:0004329	Abnormal posterior eye segment morphology	8943	AP3D1	ORPHA:54
HP:0004329	Abnormal posterior eye segment morphology	3257	HPS1	OMIM:203300
HP:0004329	Abnormal posterior eye segment morphology	5590	PRKCZ	ORPHA:1606
HP:0004329	Abnormal posterior eye segment morphology	2563	GABRD	ORPHA:1606
HP:0004329	Abnormal posterior eye segment morphology	23013	SPEN	ORPHA:1606
HP:0004329	Abnormal posterior eye segment morphology	8510	MMP23B	ORPHA:1606
HP:0004329	Abnormal posterior eye segment morphology	7798	LUZP1	ORPHA:1606
HP:0004329	Abnormal posterior eye segment morphology	6497	SKI	ORPHA:1606
HP:0004329	Abnormal posterior eye segment morphology	10630	PDPN	ORPHA:1606
HP:0004329	Abnormal posterior eye segment morphology	3339	HSPG2	ORPHA:1606
HP:0004329	Abnormal posterior eye segment morphology	10277	UBE4B	ORPHA:1606
HP:0004329	Abnormal posterior eye segment morphology	8514	KCNAB2	ORPHA:1606
HP:0004329	Abnormal posterior eye segment morphology	473	RERE	ORPHA:1606
HP:0004329	Abnormal posterior eye segment morphology	63976	PRDM16	ORPHA:1606
HP:0004329	Abnormal posterior eye segment morphology	54897	CASZ1	ORPHA:1606
HP:0004329	Abnormal posterior eye segment morphology	8546	AP3B1	OMIM:608233
HP:0004329	Abnormal posterior eye segment morphology	1130	LYST	ORPHA:352723
HP:0004329	Abnormal posterior eye segment morphology	1130	LYST	OMIM:214500
HP:0004329	Abnormal posterior eye segment morphology	4935	GPR143	ORPHA:54
HP:0004329	Abnormal posterior eye segment morphology	4935	GPR143	OMIM:300500
HP:0004329	Abnormal posterior eye segment morphology	89781	HPS4	OMIM:614073
HP:0004329	Abnormal posterior eye segment morphology	11234	HPS5	OMIM:614074
HP:0004329	Abnormal posterior eye segment morphology	26258	BLOC1S6	OMIM:614171
HP:0004329	Abnormal posterior eye segment morphology	388552	BLOC1S3	OMIM:614077
HP:0004329	Abnormal posterior eye segment morphology	79803	HPS6	OMIM:614075
HP:0004329	Abnormal posterior eye segment morphology	84062	DTNBP1	OMIM:614076
HP:0004329	Abnormal posterior eye segment morphology	6663	SOX10	OMIM:611584
HP:0004329	Abnormal posterior eye segment morphology	51151	SLC45A2	ORPHA:79435
HP:0004329	Abnormal posterior eye segment morphology	4535	MT-ND1	OMIM:535000
HP:0004329	Abnormal posterior eye segment morphology	4536	MT-ND2	OMIM:535000
HP:0004329	Abnormal posterior eye segment morphology	4538	MT-ND4	OMIM:535000
HP:0004329	Abnormal posterior eye segment morphology	4514	MT-CO3	OMIM:535000
HP:0004329	Abnormal posterior eye segment morphology	4519	MT-CYB	OMIM:535000
HP:0004329	Abnormal posterior eye segment morphology	4540	MT-ND5	OMIM:535000
HP:0004329	Abnormal posterior eye segment morphology	4541	MT-ND6	OMIM:535000
HP:0004329	Abnormal posterior eye segment morphology	4539	MT-ND4L	OMIM:535000
HP:0004329	Abnormal posterior eye segment morphology	4007	PRICKLE3	OMIM:308905
HP:0004329	Abnormal posterior eye segment morphology	6804	STX1A	ORPHA:904
HP:0004329	Abnormal posterior eye segment morphology	7461	CLIP2	ORPHA:904
HP:0004329	Abnormal posterior eye segment morphology	8468	FKBP6	ORPHA:904
HP:0004329	Abnormal posterior eye segment morphology	5982	RFC2	ORPHA:904
HP:0004329	Abnormal posterior eye segment morphology	2969	GTF2I	ORPHA:904
HP:0004329	Abnormal posterior eye segment morphology	3984	LIMK1	ORPHA:904
HP:0004329	Abnormal posterior eye segment morphology	9569	GTF2IRD1	ORPHA:904
HP:0004329	Abnormal posterior eye segment morphology	155382	VPS37D	ORPHA:904
HP:0004329	Abnormal posterior eye segment morphology	155368	METTL27	ORPHA:904
HP:0004329	Abnormal posterior eye segment morphology	114049	BUD23	ORPHA:904
HP:0004329	Abnormal posterior eye segment morphology	7458	EIF4H	ORPHA:904
HP:0004329	Abnormal posterior eye segment morphology	84163	GTF2IRD2	ORPHA:904
HP:0004329	Abnormal posterior eye segment morphology	26608	TBL2	ORPHA:904
HP:0004329	Abnormal posterior eye segment morphology	653361	NCF1	ORPHA:904
HP:0004329	Abnormal posterior eye segment morphology	135886	TMEM270	ORPHA:904
HP:0004329	Abnormal posterior eye segment morphology	9031	BAZ1B	ORPHA:904
HP:0004329	Abnormal posterior eye segment morphology	2006	ELN	ORPHA:904
HP:0004329	Abnormal posterior eye segment morphology	2006	ELN	OMIM:194050
HP:0004329	Abnormal posterior eye segment morphology	51085	MLXIPL	OMIM:194050
HP:0004329	Abnormal posterior eye segment morphology	1822	ATN1	ORPHA:101
HP:0004329	Abnormal posterior eye segment morphology	3949	LDLR	ORPHA:391665
HP:0004329	Abnormal posterior eye segment morphology	255738	PCSK9	ORPHA:391665
HP:0004329	Abnormal posterior eye segment morphology	26119	LDLRAP1	ORPHA:391665
HP:0004329	Abnormal posterior eye segment morphology	64240	ABCG5	ORPHA:391665
HP:0004329	Abnormal posterior eye segment morphology	64241	ABCG8	ORPHA:391665
HP:0004329	Abnormal posterior eye segment morphology	493856	CISD2	OMIM:604928
HP:0004329	Abnormal posterior eye segment morphology	25915	NDUFAF3	ORPHA:2609
HP:0004329	Abnormal posterior eye segment morphology	51103	NDUFAF1	ORPHA:2609
HP:0004329	Abnormal posterior eye segment morphology	91942	NDUFAF2	ORPHA:2609
HP:0004329	Abnormal posterior eye segment morphology	51300	TIMMDC1	ORPHA:2609
HP:0004329	Abnormal posterior eye segment morphology	4716	NDUFB10	ORPHA:2609
HP:0004329	Abnormal posterior eye segment morphology	4723	NDUFV1	ORPHA:2609
HP:0004329	Abnormal posterior eye segment morphology	55572	FOXRED1	ORPHA:2609
HP:0004329	Abnormal posterior eye segment morphology	284184	NDUFAF8	ORPHA:2609
HP:0004329	Abnormal posterior eye segment morphology	55863	TMEM126B	ORPHA:2609
HP:0004329	Abnormal posterior eye segment morphology	4537	MT-ND3	ORPHA:2609
HP:0004329	Abnormal posterior eye segment morphology	4729	NDUFV2	ORPHA:2609
HP:0004329	Abnormal posterior eye segment morphology	4694	NDUFA1	ORPHA:2609
HP:0004329	Abnormal posterior eye segment morphology	4720	NDUFS2	ORPHA:2609
HP:0004329	Abnormal posterior eye segment morphology	4724	NDUFS4	ORPHA:2609
HP:0004329	Abnormal posterior eye segment morphology	4724	NDUFS4	OMIM:252010
HP:0004329	Abnormal posterior eye segment morphology	4726	NDUFS6	ORPHA:2609
HP:0004329	Abnormal posterior eye segment morphology	4728	NDUFS8	ORPHA:2609
HP:0004329	Abnormal posterior eye segment morphology	4722	NDUFS3	ORPHA:2609
HP:0004329	Abnormal posterior eye segment morphology	79133	NDUFAF5	ORPHA:2609
HP:0004329	Abnormal posterior eye segment morphology	126328	NDUFA11	ORPHA:2609
HP:0004329	Abnormal posterior eye segment morphology	4709	NDUFB3	ORPHA:2609
HP:0004329	Abnormal posterior eye segment morphology	80224	NUBPL	ORPHA:2609
HP:0004329	Abnormal posterior eye segment morphology	29078	NDUFAF4	ORPHA:2609
HP:0004329	Abnormal posterior eye segment morphology	374291	NDUFS7	ORPHA:2609
HP:0004329	Abnormal posterior eye segment morphology	4700	NDUFA6	ORPHA:2609
HP:0004329	Abnormal posterior eye segment morphology	4719	NDUFS1	ORPHA:2609
HP:0004329	Abnormal posterior eye segment morphology	4715	NDUFB9	ORPHA:2609
HP:0004329	Abnormal posterior eye segment morphology	6452	SH3BP2	OMIM:118400
HP:0004329	Abnormal posterior eye segment morphology	91574	MTRFR	ORPHA:320375
HP:0004329	Abnormal posterior eye segment morphology	79639	TMEM53	OMIM:619727
HP:0004329	Abnormal posterior eye segment morphology	6709	SPTAN1	OMIM:620538
HP:0004329	Abnormal posterior eye segment morphology	51079	NDUFA13	OMIM:618249
HP:0004329	Abnormal posterior eye segment morphology	55717	WDR11	OMIM:620237
HP:0004329	Abnormal posterior eye segment morphology	686	BTD	ORPHA:79241
HP:0004329	Abnormal posterior eye segment morphology	2934	GSN	OMIM:105120
HP:0004329	Abnormal posterior eye segment morphology	10102	TSFM	OMIM:610505
HP:0004329	Abnormal posterior eye segment morphology	1969	EPHA2	OMIM:116600
HP:0004329	Abnormal posterior eye segment morphology	8322	FZD4	OMIM:133780
HP:0004329	Abnormal posterior eye segment morphology	79797	ZNF408	OMIM:616468
HP:0004329	Abnormal posterior eye segment morphology	1301	COL11A1	OMIM:604841
HP:0004329	Abnormal posterior eye segment morphology	1301	COL11A1	ORPHA:560
HP:0004329	Abnormal posterior eye segment morphology	1301	COL11A1	ORPHA:90654
HP:0004329	Abnormal posterior eye segment morphology	1280	COL2A1	ORPHA:90653
HP:0004329	Abnormal posterior eye segment morphology	1280	COL2A1	ORPHA:93296
HP:0004329	Abnormal posterior eye segment morphology	4041	LRP5	ORPHA:2788
HP:0004329	Abnormal posterior eye segment morphology	652	BMP4	ORPHA:828
HP:0004329	Abnormal posterior eye segment morphology	80781	COL18A1	ORPHA:1571
HP:0004329	Abnormal posterior eye segment morphology	5062	PAK2	ORPHA:1571
HP:0004329	Abnormal posterior eye segment morphology	57096	RPGRIP1	OMIM:613826
HP:0004329	Abnormal posterior eye segment morphology	4693	NDP	ORPHA:649
HP:0004329	Abnormal posterior eye segment morphology	54539	NDUFB11	ORPHA:2556
HP:0004329	Abnormal posterior eye segment morphology	1349	COX7B	ORPHA:2556
HP:0004329	Abnormal posterior eye segment morphology	3052	HCCS	ORPHA:2556
HP:0004329	Abnormal posterior eye segment morphology	8565	YARS1	OMIM:619418
HP:0004329	Abnormal posterior eye segment morphology	2811	GP1BA	OMIM:258660
HP:0004329	Abnormal posterior eye segment morphology	4854	NOTCH3	OMIM:125310
HP:0004329	Abnormal posterior eye segment morphology	2263	FGFR2	ORPHA:313855
HP:0004329	Abnormal posterior eye segment morphology	83696	TRAPPC9	ORPHA:352530
HP:0004329	Abnormal posterior eye segment morphology	4595	MUTYH	ORPHA:247798
HP:0004329	Abnormal posterior eye segment morphology	388015	RTL1	ORPHA:96334
HP:0004329	Abnormal posterior eye segment morphology	8788	DLK1	ORPHA:96334
HP:0004329	Abnormal posterior eye segment morphology	55384	MEG3	ORPHA:96334
HP:0004329	Abnormal posterior eye segment morphology	6873	TAF2	ORPHA:397951
HP:0004329	Abnormal posterior eye segment morphology	63916	ELMO2	ORPHA:3019
HP:0004329	Abnormal posterior eye segment morphology	26504	CNNM4	ORPHA:1873
HP:0004329	Abnormal posterior eye segment morphology	84839	RAX2	ORPHA:1872
HP:0004329	Abnormal posterior eye segment morphology	5956	OPN1LW	ORPHA:1872
HP:0004329	Abnormal posterior eye segment morphology	5956	OPN1LW	ORPHA:16
HP:0004329	Abnormal posterior eye segment morphology	8754	ADAM9	ORPHA:1872
HP:0004329	Abnormal posterior eye segment morphology	22999	RIMS1	ORPHA:1872
HP:0004329	Abnormal posterior eye segment morphology	2652	OPN1MW	ORPHA:1872
HP:0004329	Abnormal posterior eye segment morphology	2652	OPN1MW	ORPHA:16
HP:0004329	Abnormal posterior eye segment morphology	9094	UNC119	ORPHA:1872
HP:0004329	Abnormal posterior eye segment morphology	93589	CACNA2D4	ORPHA:1872
HP:0004329	Abnormal posterior eye segment morphology	93589	CACNA2D4	ORPHA:215
HP:0004329	Abnormal posterior eye segment morphology	2978	GUCA1A	ORPHA:1872
HP:0004329	Abnormal posterior eye segment morphology	2978	GUCA1A	ORPHA:1871
HP:0004329	Abnormal posterior eye segment morphology	282809	POC1B	ORPHA:1872
HP:0004329	Abnormal posterior eye segment morphology	83394	PITPNM3	ORPHA:1872
HP:0004329	Abnormal posterior eye segment morphology	23093	TTLL5	ORPHA:1872
HP:0004329	Abnormal posterior eye segment morphology	83723	TLCD3B	ORPHA:1872
HP:0004329	Abnormal posterior eye segment morphology	9364	RAB28	ORPHA:1872
HP:0004329	Abnormal posterior eye segment morphology	22880	MORC2	ORPHA:466768
HP:0004329	Abnormal posterior eye segment morphology	65082	VPS33A	ORPHA:505248
HP:0004329	Abnormal posterior eye segment morphology	6023	RMRP	ORPHA:175
HP:0004329	Abnormal posterior eye segment morphology	7274	TTPA	ORPHA:96
HP:0004329	Abnormal posterior eye segment morphology	54476	RNF216	ORPHA:1173
HP:0004329	Abnormal posterior eye segment morphology	3075	CFH	ORPHA:75376
HP:0004329	Abnormal posterior eye segment morphology	3426	CFI	ORPHA:75376
HP:0004329	Abnormal posterior eye segment morphology	9851	KIAA0753	ORPHA:474
HP:0004329	Abnormal posterior eye segment morphology	55112	DYNC2I1	ORPHA:474
HP:0004329	Abnormal posterior eye segment morphology	57560	IFT80	ORPHA:474
HP:0004329	Abnormal posterior eye segment morphology	51626	DYNC2LI1	ORPHA:474
HP:0004329	Abnormal posterior eye segment morphology	79659	DYNC2H1	ORPHA:474
HP:0004329	Abnormal posterior eye segment morphology	89891	DYNC2I2	ORPHA:474
HP:0004329	Abnormal posterior eye segment morphology	79809	TTC21B	ORPHA:474
HP:0004329	Abnormal posterior eye segment morphology	343035	RD3	ORPHA:65
HP:0004329	Abnormal posterior eye segment morphology	5130	PCYT1A	ORPHA:65
HP:0004329	Abnormal posterior eye segment morphology	5130	PCYT1A	ORPHA:85167
HP:0004329	Abnormal posterior eye segment morphology	392255	GDF6	ORPHA:65
HP:0004329	Abnormal posterior eye segment morphology	6197	RPS6KA3	ORPHA:192
HP:0004329	Abnormal posterior eye segment morphology	157680	VPS13B	ORPHA:193
HP:0004329	Abnormal posterior eye segment morphology	63895	PIEZO2	OMIM:108145
HP:0004329	Abnormal posterior eye segment morphology	5184	PEPD	ORPHA:742
HP:0004329	Abnormal posterior eye segment morphology	8792	TNFRSF11A	ORPHA:2801
HP:0004329	Abnormal posterior eye segment morphology	4308	TRPM1	ORPHA:215
HP:0004329	Abnormal posterior eye segment morphology	57010	CABP4	ORPHA:215
HP:0004329	Abnormal posterior eye segment morphology	345193	LRIT3	ORPHA:215
HP:0004329	Abnormal posterior eye segment morphology	2916	GRM6	ORPHA:215
HP:0004329	Abnormal posterior eye segment morphology	440435	GPR179	ORPHA:215
HP:0004329	Abnormal posterior eye segment morphology	9187	SLC24A1	ORPHA:215
HP:0004329	Abnormal posterior eye segment morphology	2784	GNB3	ORPHA:215
HP:0004329	Abnormal posterior eye segment morphology	2779	GNAT1	ORPHA:215
HP:0004329	Abnormal posterior eye segment morphology	60506	NYX	ORPHA:215
HP:0004329	Abnormal posterior eye segment morphology	149461	CLDN19	ORPHA:2196
HP:0004329	Abnormal posterior eye segment morphology	27229	TUBGCP4	ORPHA:2518
HP:0004329	Abnormal posterior eye segment morphology	2317	FLNB	OMIM:272460
HP:0004329	Abnormal posterior eye segment morphology	56980	PRDM10	ORPHA:122
HP:0004329	Abnormal posterior eye segment morphology	201163	FLCN	ORPHA:122
HP:0004329	Abnormal posterior eye segment morphology	9990	SLC12A6	ORPHA:1496
HP:0004329	Abnormal posterior eye segment morphology	4948	OCA2	ORPHA:79432
HP:0004329	Abnormal posterior eye segment morphology	4952	OCRL	ORPHA:534
HP:0004329	Abnormal posterior eye segment morphology	7360	UGP2	OMIM:618744
HP:0004329	Abnormal posterior eye segment morphology	3708	ITPR1	OMIM:206700
HP:0004329	Abnormal posterior eye segment morphology	4166	CHST6	OMIM:217800
HP:0004329	Abnormal posterior eye segment morphology	93426	SYCE1	OMIM:616947
HP:0004329	Abnormal posterior eye segment morphology	80169	CTC1	OMIM:612199
HP:0004329	Abnormal posterior eye segment morphology	2658	GDF2	ORPHA:774
HP:0004329	Abnormal posterior eye segment morphology	94	ACVRL1	ORPHA:774
HP:0004329	Abnormal posterior eye segment morphology	4089	SMAD4	ORPHA:774
HP:0004329	Abnormal posterior eye segment morphology	2022	ENG	ORPHA:774
HP:0004329	Abnormal posterior eye segment morphology	84277	DNAJC30	OMIM:619382
HP:0004329	Abnormal posterior eye segment morphology	84277	DNAJC30	ORPHA:104
HP:0004329	Abnormal posterior eye segment morphology	79991	STN1	OMIM:617341
HP:0004329	Abnormal posterior eye segment morphology	5111	PCNA	ORPHA:438134
HP:0004329	Abnormal posterior eye segment morphology	3192	HNRNPU	ORPHA:238769
HP:0004329	Abnormal posterior eye segment morphology	9342	SNAP29	OMIM:609528
HP:0004329	Abnormal posterior eye segment morphology	54802	TRIT1	OMIM:617873
HP:0004329	Abnormal posterior eye segment morphology	55770	EXOC2	OMIM:619306
HP:0004329	Abnormal posterior eye segment morphology	5361	PLXNA1	OMIM:619955
HP:0004329	Abnormal posterior eye segment morphology	10002	NR2E3	OMIM:268100
HP:0004329	Abnormal posterior eye segment morphology	1499	CTNNB1	ORPHA:891
HP:0004329	Abnormal posterior eye segment morphology	23554	TSPAN12	ORPHA:891
HP:0004329	Abnormal posterior eye segment morphology	726	CAPN5	OMIM:193235
HP:0004329	Abnormal posterior eye segment morphology	1298	COL9A2	OMIM:614284
HP:0004329	Abnormal posterior eye segment morphology	1298	COL9A2	ORPHA:250984
HP:0004329	Abnormal posterior eye segment morphology	1297	COL9A1	ORPHA:250984
HP:0004329	Abnormal posterior eye segment morphology	1299	COL9A3	ORPHA:250984
HP:0004329	Abnormal posterior eye segment morphology	1462	VCAN	OMIM:143200
HP:0004329	Abnormal posterior eye segment morphology	889	KRIT1	OMIM:116860
HP:0004329	Abnormal posterior eye segment morphology	84196	USP48	ORPHA:96253
HP:0004329	Abnormal posterior eye segment morphology	7157	TP53	ORPHA:96253
HP:0004329	Abnormal posterior eye segment morphology	9101	USP8	ORPHA:96253
HP:0004329	Abnormal posterior eye segment morphology	64072	CDH23	ORPHA:96253
HP:0004329	Abnormal posterior eye segment morphology	2908	NR3C1	ORPHA:96253
HP:0004329	Abnormal posterior eye segment morphology	546	ATRX	ORPHA:96253
HP:0004329	Abnormal posterior eye segment morphology	7040	TGFB1	ORPHA:1328
HP:0004329	Abnormal posterior eye segment morphology	7040	TGFB1	OMIM:131300
HP:0004329	Abnormal posterior eye segment morphology	10312	TCIRG1	ORPHA:667
HP:0004329	Abnormal posterior eye segment morphology	1186	CLCN7	ORPHA:667
HP:0004329	Abnormal posterior eye segment morphology	29887	SNX10	ORPHA:667
HP:0004329	Abnormal posterior eye segment morphology	8600	TNFSF11	ORPHA:667
HP:0004329	Abnormal posterior eye segment morphology	85465	SELENOI	ORPHA:506353
HP:0004329	Abnormal posterior eye segment morphology	4683	NBN	OMIM:251260
HP:0004329	Abnormal posterior eye segment morphology	4329	ALDH6A1	OMIM:614105
HP:0004329	Abnormal posterior eye segment morphology	56652	TWNK	OMIM:607459
HP:0004329	Abnormal posterior eye segment morphology	27072	VPS41	OMIM:619389
HP:0004329	Abnormal posterior eye segment morphology	51098	IFT52	OMIM:617102
HP:0004329	Abnormal posterior eye segment morphology	7276	TTR	OMIM:105210
HP:0004329	Abnormal posterior eye segment morphology	3035	HARS1	OMIM:614504
HP:0004329	Abnormal posterior eye segment morphology	25914	RTTN	ORPHA:468631
HP:0004329	Abnormal posterior eye segment morphology	6742	SSBP1	OMIM:165510
HP:0004329	Abnormal posterior eye segment morphology	112752	IFT43	OMIM:617871
HP:0004329	Abnormal posterior eye segment morphology	8449	DHX16	OMIM:618733
HP:0004329	Abnormal posterior eye segment morphology	63901	FAM111A	OMIM:127000
HP:0004329	Abnormal posterior eye segment morphology	63901	FAM111A	ORPHA:93325
HP:0004329	Abnormal posterior eye segment morphology	59	ACTA2	OMIM:613834
HP:0004329	Abnormal posterior eye segment morphology	11235	PDCD10	ORPHA:221061
HP:0004329	Abnormal posterior eye segment morphology	83605	CCM2	ORPHA:221061
HP:0004329	Abnormal posterior eye segment morphology	374654	KIF7	OMIM:200990
HP:0004329	Abnormal posterior eye segment morphology	5077	PAX3	OMIM:193500
HP:0004329	Abnormal posterior eye segment morphology	2296	FOXC1	ORPHA:250923
HP:0004329	Abnormal posterior eye segment morphology	54765	TRIM44	ORPHA:250923
HP:0004329	Abnormal posterior eye segment morphology	10166	SLC25A15	OMIM:238970
HP:0004329	Abnormal posterior eye segment morphology	26277	TINF2	OMIM:268130
HP:0004329	Abnormal posterior eye segment morphology	26277	TINF2	OMIM:613990
HP:0004329	Abnormal posterior eye segment morphology	5624	PROC	OMIM:612304
HP:0004329	Abnormal posterior eye segment morphology	5925	RB1	OMIM:180200
HP:0004329	Abnormal posterior eye segment morphology	90952	ESAM	OMIM:620371
HP:0004329	Abnormal posterior eye segment morphology	23137	SMC5	OMIM:620185
HP:0004329	Abnormal posterior eye segment morphology	26278	SACS	ORPHA:98
HP:0004329	Abnormal posterior eye segment morphology	26278	SACS	OMIM:270550
HP:0004329	Abnormal posterior eye segment morphology	5159	PDGFRB	OMIM:601812
HP:0004329	Abnormal posterior eye segment morphology	7003	TEAD1	OMIM:108985
HP:0004329	Abnormal posterior eye segment morphology	9842	PLEKHM1	ORPHA:210110
HP:0004329	Abnormal posterior eye segment morphology	1495	CTNNA1	OMIM:608970
HP:0004329	Abnormal posterior eye segment morphology	2065	ERBB3	OMIM:607598
HP:0004329	Abnormal posterior eye segment morphology	220202	ATOH7	OMIM:221900
HP:0004329	Abnormal posterior eye segment morphology	220202	ATOH7	ORPHA:91495
HP:0004329	Abnormal posterior eye segment morphology	54880	BCOR	OMIM:300166
HP:0004329	Abnormal posterior eye segment morphology	57479	PRR12	OMIM:619539
HP:0004329	Abnormal posterior eye segment morphology	5080	PAX6	OMIM:165550
HP:0004329	Abnormal posterior eye segment morphology	5080	PAX6	OMIM:120200
HP:0004329	Abnormal posterior eye segment morphology	3913	LAMB2	OMIM:609049
HP:0004329	Abnormal posterior eye segment morphology	57688	ZSWIM6	OMIM:603671
HP:0004329	Abnormal posterior eye segment morphology	6496	SIX3	OMIM:157170
HP:0004329	Abnormal posterior eye segment morphology	5147	PDE6D	OMIM:615665
HP:0004329	Abnormal posterior eye segment morphology	1593	CYP27A1	ORPHA:909
HP:0004329	Abnormal posterior eye segment morphology	23474	ETHE1	OMIM:602473
HP:0004329	Abnormal posterior eye segment morphology	84282	RNF135	ORPHA:137634
HP:0004329	Abnormal posterior eye segment morphology	7249	TSC2	OMIM:613254
HP:0004329	Abnormal posterior eye segment morphology	7249	TSC2	ORPHA:805
HP:0004329	Abnormal posterior eye segment morphology	7249	TSC2	ORPHA:538
HP:0004329	Abnormal posterior eye segment morphology	7248	TSC1	ORPHA:805
HP:0004329	Abnormal posterior eye segment morphology	7248	TSC1	OMIM:191100
HP:0004329	Abnormal posterior eye segment morphology	7248	TSC1	ORPHA:538
HP:0004329	Abnormal posterior eye segment morphology	11200	CHEK2	OMIM:259500
HP:0004329	Abnormal posterior eye segment morphology	5476	CTSA	ORPHA:351
HP:0004329	Abnormal posterior eye segment morphology	5476	CTSA	OMIM:256540
HP:0004329	Abnormal posterior eye segment morphology	3074	HEXB	ORPHA:309155
HP:0004329	Abnormal posterior eye segment morphology	3074	HEXB	OMIM:268800
HP:0004329	Abnormal posterior eye segment morphology	2517	FUCA1	OMIM:230000
HP:0004329	Abnormal posterior eye segment morphology	3073	HEXA	OMIM:272800
HP:0004329	Abnormal posterior eye segment morphology	2760	GM2A	ORPHA:309246
HP:0004329	Abnormal posterior eye segment morphology	54499	TMCO1	OMIM:213980
HP:0004329	Abnormal posterior eye segment morphology	54675	CRLS1	OMIM:620167
HP:0004329	Abnormal posterior eye segment morphology	7123	CLEC3B	OMIM:619977
HP:0004329	Abnormal posterior eye segment morphology	83715	ESPN	OMIM:618632
HP:0004329	Abnormal posterior eye segment morphology	5322	PLA2G5	OMIM:228980
HP:0004329	Abnormal posterior eye segment morphology	3490	IGFBP7	OMIM:614224
HP:0004329	Abnormal posterior eye segment morphology	2161	F12	ORPHA:330
HP:0004329	Abnormal posterior eye segment morphology	4016	LOXL1	OMIM:177650
HP:0004329	Abnormal posterior eye segment morphology	462	SERPINC1	ORPHA:82
HP:0004329	Abnormal posterior eye segment morphology	22856	CHSY1	ORPHA:363417
HP:0004329	Abnormal posterior eye segment morphology	7010	TEK	OMIM:617272
HP:0004329	Abnormal posterior eye segment morphology	1009	CDH11	OMIM:211380
HP:0004329	Abnormal posterior eye segment morphology	136371	ASB10	OMIM:603383
HP:0004329	Abnormal posterior eye segment morphology	54487	DGCR8	OMIM:192430
HP:0004329	Abnormal posterior eye segment morphology	6899	TBX1	OMIM:192430
HP:0004329	Abnormal posterior eye segment morphology	8214	DGCR6	OMIM:192430
HP:0004329	Abnormal posterior eye segment morphology	8220	ESS2	OMIM:192430
HP:0004329	Abnormal posterior eye segment morphology	9993	DGCR2	OMIM:192430
HP:0004329	Abnormal posterior eye segment morphology	1063	CENPF	OMIM:243605
HP:0004329	Abnormal posterior eye segment morphology	7490	WT1	OMIM:106210
HP:0004329	Abnormal posterior eye segment morphology	344658	SAMD7	OMIM:620762
HP:0004329	Abnormal posterior eye segment morphology	10625	IVNS1ABP	OMIM:618969
HP:0004329	Abnormal posterior eye segment morphology	3932	LCK	OMIM:615758
HP:0004329	Abnormal posterior eye segment morphology	23545	ATP6V0A2	ORPHA:357074
HP:0004329	Abnormal posterior eye segment morphology	529	ATP6V1E1	ORPHA:357074
HP:0004329	Abnormal posterior eye segment morphology	10059	DNM1L	ORPHA:98673
HP:0004329	Abnormal posterior eye segment morphology	146167	SLC38A8	OMIM:609218
HP:0004329	Abnormal posterior eye segment morphology	7306	TYRP1	ORPHA:79433
HP:0004329	Abnormal posterior eye segment morphology	9699	RIMS2	OMIM:618970
HP:0004329	Abnormal posterior eye segment morphology	9371	KIF3B	OMIM:618955
HP:0004329	Abnormal posterior eye segment morphology	6533	SLC6A6	OMIM:145350
HP:0004329	Abnormal posterior eye segment morphology	2673	GFPT1	OMIM:610542
HP:0004329	Abnormal posterior eye segment morphology	1181	CLCN2	OMIM:615651
HP:0004329	Abnormal posterior eye segment morphology	71	ACTG1	ORPHA:2995
HP:0004329	Abnormal posterior eye segment morphology	60	ACTB	ORPHA:2995
HP:0004329	Abnormal posterior eye segment morphology	1121	CHM	ORPHA:180
HP:0004329	Abnormal posterior eye segment morphology	94137	RP1L1	OMIM:613587
HP:0004329	Abnormal posterior eye segment morphology	326	AIRE	OMIM:240300
HP:0004329	Abnormal posterior eye segment morphology	3769	KCNJ13	OMIM:193230
HP:0004329	Abnormal posterior eye segment morphology	2615	LRRC32	OMIM:619074
HP:0004329	Abnormal posterior eye segment morphology	403	ARL3	OMIM:618173
HP:0004329	Abnormal posterior eye segment morphology	10594	PRPF8	OMIM:600059
HP:0004329	Abnormal posterior eye segment morphology	6011	GRK1	OMIM:613411
HP:0004329	Abnormal posterior eye segment morphology	6011	GRK1	ORPHA:75382
HP:0004329	Abnormal posterior eye segment morphology	6295	SAG	ORPHA:75382
HP:0004329	Abnormal posterior eye segment morphology	6295	SAG	OMIM:258100
HP:0004329	Abnormal posterior eye segment morphology	6247	RS1	ORPHA:792
HP:0004329	Abnormal posterior eye segment morphology	6247	RS1	OMIM:312700
HP:0004329	Abnormal posterior eye segment morphology	6094	ROM1	OMIM:268000
HP:0004329	Abnormal posterior eye segment morphology	7401	CLRN1	OMIM:268000
HP:0004329	Abnormal posterior eye segment morphology	157657	CFAP418	OMIM:268000
HP:0004329	Abnormal posterior eye segment morphology	9227	LRAT	OMIM:268000
HP:0004329	Abnormal posterior eye segment morphology	5949	RBP3	OMIM:268000
HP:0004329	Abnormal posterior eye segment morphology	1259	CNGA1	OMIM:268000
HP:0004329	Abnormal posterior eye segment morphology	5148	PDE6G	OMIM:268000
HP:0004329	Abnormal posterior eye segment morphology	23746	AIPL1	OMIM:268000
HP:0004329	Abnormal posterior eye segment morphology	1406	CRX	OMIM:268000
HP:0004329	Abnormal posterior eye segment morphology	84100	ARL6	OMIM:268000
HP:0004329	Abnormal posterior eye segment morphology	6010	RHO	ORPHA:52427
HP:0004329	Abnormal posterior eye segment morphology	5959	RDH5	ORPHA:52427
HP:0004329	Abnormal posterior eye segment morphology	10058	ABCB6	OMIM:614497
HP:0004329	Abnormal posterior eye segment morphology	51134	CEP83	OMIM:615862
HP:0004329	Abnormal posterior eye segment morphology	6492	SIM1	ORPHA:398079
HP:0004329	Abnormal posterior eye segment morphology	54551	MAGEL2	ORPHA:398069
HP:0004329	Abnormal posterior eye segment morphology	1638	DCT	OMIM:619165
HP:0004329	Abnormal posterior eye segment morphology	153642	ARSK	OMIM:619698
HP:0004329	Abnormal posterior eye segment morphology	55214	P3H2	OMIM:614292
HP:0004329	Abnormal posterior eye segment morphology	6091	ROBO1	ORPHA:95496
HP:0004329	Abnormal posterior eye segment morphology	50937	CDON	ORPHA:95496
HP:0004329	Abnormal posterior eye segment morphology	23432	GPR161	ORPHA:95496
HP:0004329	Abnormal posterior eye segment morphology	9578	CDC42BPB	OMIM:619841
HP:0004329	Abnormal posterior eye segment morphology	1804	DPP6	OMIM:616311
HP:0004329	Abnormal posterior eye segment morphology	170692	ADAMTS18	OMIM:615458
HP:0004329	Abnormal posterior eye segment morphology	6935	ZEB1	ORPHA:98973
HP:0004329	Abnormal posterior eye segment morphology	30813	VSX1	ORPHA:98973
HP:0004329	Abnormal posterior eye segment morphology	58495	OVOL2	ORPHA:98973
HP:0004329	Abnormal posterior eye segment morphology	79977	GRHL2	ORPHA:98973
HP:0004329	Abnormal posterior eye segment morphology	1296	COL8A2	ORPHA:98973
HP:0004329	Abnormal posterior eye segment morphology	51163	DBR1	OMIM:620510
HP:0004329	Abnormal posterior eye segment morphology	55901	THSD1	OMIM:620244
HP:0004329	Abnormal posterior eye segment morphology	126792	B3GALT6	ORPHA:536467
HP:0004329	Abnormal posterior eye segment morphology	4327	MMP19	OMIM:611543
HP:0004328	Abnormal anterior eye segment morphology	27019	DNAI1	OMIM:244400
HP:0004328	Abnormal anterior eye segment morphology	3909	LAMA3	ORPHA:79404
HP:0004328	Abnormal anterior eye segment morphology	3918	LAMC2	ORPHA:79404
HP:0004328	Abnormal anterior eye segment morphology	3914	LAMB3	ORPHA:79404
HP:0004328	Abnormal anterior eye segment morphology	1277	COL1A1	ORPHA:287
HP:0004328	Abnormal anterior eye segment morphology	1289	COL5A1	ORPHA:287
HP:0004328	Abnormal anterior eye segment morphology	1290	COL5A2	ORPHA:287
HP:0004328	Abnormal anterior eye segment morphology	5308	PITX2	OMIM:180550
HP:0004328	Abnormal anterior eye segment morphology	84627	ZNF469	OMIM:229200
HP:0004328	Abnormal anterior eye segment morphology	1497	CTNS	ORPHA:411634
HP:0004328	Abnormal anterior eye segment morphology	1497	CTNS	ORPHA:411629
HP:0004328	Abnormal anterior eye segment morphology	51715	RAB23	ORPHA:65759
HP:0004328	Abnormal anterior eye segment morphology	1954	MEGF8	ORPHA:65759
HP:0004328	Abnormal anterior eye segment morphology	2316	FLNA	ORPHA:1826
HP:0004328	Abnormal anterior eye segment morphology	6885	MAP3K7	ORPHA:1826
HP:0004328	Abnormal anterior eye segment morphology	7045	TGFBI	ORPHA:98964
HP:0004328	Abnormal anterior eye segment morphology	5351	PLOD1	OMIM:225400
HP:0004328	Abnormal anterior eye segment morphology	5351	PLOD1	ORPHA:1900
HP:0004328	Abnormal anterior eye segment morphology	406960	MIR184	OMIM:614303
HP:0004328	Abnormal anterior eye segment morphology	89910	UBE3B	OMIM:244450
HP:0004328	Abnormal anterior eye segment morphology	89910	UBE3B	ORPHA:2707
HP:0004328	Abnormal anterior eye segment morphology	2314	FLII	ORPHA:819
HP:0004328	Abnormal anterior eye segment morphology	23096	IQSEC2	ORPHA:819
HP:0004328	Abnormal anterior eye segment morphology	10743	RAI1	ORPHA:819
HP:0004328	Abnormal anterior eye segment morphology	10522	DEAF1	ORPHA:819
HP:0004328	Abnormal anterior eye segment morphology	10982	MAPRE2	OMIM:616734
HP:0004328	Abnormal anterior eye segment morphology	10982	MAPRE2	ORPHA:2505
HP:0004328	Abnormal anterior eye segment morphology	55033	FKBP14	OMIM:614557
HP:0004328	Abnormal anterior eye segment morphology	55033	FKBP14	ORPHA:300179
HP:0004328	Abnormal anterior eye segment morphology	646960	PRSS56	OMIM:613517
HP:0004328	Abnormal anterior eye segment morphology	79718	TBL1XR1	ORPHA:487825
HP:0004328	Abnormal anterior eye segment morphology	79718	TBL1XR1	OMIM:602342
HP:0004328	Abnormal anterior eye segment morphology	668	FOXL2	OMIM:110100
HP:0004328	Abnormal anterior eye segment morphology	10664	CTCF	ORPHA:363611
HP:0004328	Abnormal anterior eye segment morphology	203068	TUBB	OMIM:156610
HP:0004328	Abnormal anterior eye segment morphology	203068	TUBB	ORPHA:2505
HP:0004328	Abnormal anterior eye segment morphology	1806	DPYD	ORPHA:1675
HP:0004328	Abnormal anterior eye segment morphology	92344	GORAB	ORPHA:2078
HP:0004328	Abnormal anterior eye segment morphology	170692	ADAMTS18	OMIM:615458
HP:0004328	Abnormal anterior eye segment morphology	6913	TBX15	OMIM:260660
HP:0004328	Abnormal anterior eye segment morphology	7528	YY1	ORPHA:506358
HP:0004328	Abnormal anterior eye segment morphology	778	CACNA1F	OMIM:300476
HP:0004328	Abnormal anterior eye segment morphology	778	CACNA1F	ORPHA:178333
HP:0004328	Abnormal anterior eye segment morphology	778	CACNA1F	OMIM:300600
HP:0004328	Abnormal anterior eye segment morphology	8036	SHOC2	OMIM:607721
HP:0004328	Abnormal anterior eye segment morphology	5087	PBX1	ORPHA:97362
HP:0004328	Abnormal anterior eye segment morphology	4099	MAG	OMIM:616680
HP:0004328	Abnormal anterior eye segment morphology	4099	MAG	ORPHA:459056
HP:0004328	Abnormal anterior eye segment morphology	51256	TBC1D7	OMIM:248000
HP:0004328	Abnormal anterior eye segment morphology	9759	HDAC4	OMIM:619797
HP:0004328	Abnormal anterior eye segment morphology	30000	TNPO2	OMIM:619556
HP:0004328	Abnormal anterior eye segment morphology	23241	PACS2	OMIM:618067
HP:0004328	Abnormal anterior eye segment morphology	10765	KDM5B	OMIM:618109
HP:0004328	Abnormal anterior eye segment morphology	64116	SLC39A8	OMIM:616721
HP:0004328	Abnormal anterior eye segment morphology	64116	SLC39A8	ORPHA:468699
HP:0004328	Abnormal anterior eye segment morphology	7299	TYR	OMIM:203100
HP:0004328	Abnormal anterior eye segment morphology	54973	INTS11	OMIM:620428
HP:0004328	Abnormal anterior eye segment morphology	3008	H1-4	OMIM:617537
HP:0004328	Abnormal anterior eye segment morphology	253738	EBF3	ORPHA:96148
HP:0004328	Abnormal anterior eye segment morphology	253738	EBF3	OMIM:617330
HP:0004328	Abnormal anterior eye segment morphology	7003	TEAD1	OMIM:108985
HP:0004328	Abnormal anterior eye segment morphology	4076	CAPRIN1	OMIM:620782
HP:0004328	Abnormal anterior eye segment morphology	90459	ERI1	OMIM:620662
HP:0004328	Abnormal anterior eye segment morphology	118987	PDZD8	OMIM:620021
HP:0004328	Abnormal anterior eye segment morphology	5575	PRKAR1B	OMIM:619680
HP:0004328	Abnormal anterior eye segment morphology	55209	SETD5	OMIM:615761
HP:0004328	Abnormal anterior eye segment morphology	6812	STXBP1	ORPHA:495818
HP:0004328	Abnormal anterior eye segment morphology	10686	CLDN16	OMIM:248250
HP:0004328	Abnormal anterior eye segment morphology	157922	CAMSAP1	OMIM:620316
HP:0004328	Abnormal anterior eye segment morphology	169522	KCNV2	OMIM:610356
HP:0004328	Abnormal anterior eye segment morphology	5010	CLDN11	OMIM:619328
HP:0004328	Abnormal anterior eye segment morphology	55777	MBD5	OMIM:156200
HP:0004328	Abnormal anterior eye segment morphology	56915	EXOSC5	OMIM:619576
HP:0004328	Abnormal anterior eye segment morphology	2590	GALNT2	OMIM:618885
HP:0004328	Abnormal anterior eye segment morphology	57492	ARID1B	OMIM:135900
HP:0004328	Abnormal anterior eye segment morphology	55870	ASH1L	OMIM:617796
HP:0004328	Abnormal anterior eye segment morphology	54496	PRMT7	OMIM:617157
HP:0004328	Abnormal anterior eye segment morphology	7275	TUB	OMIM:616188
HP:0004328	Abnormal anterior eye segment morphology	29940	DSE	ORPHA:2953
HP:0004328	Abnormal anterior eye segment morphology	5119	CHMP1A	OMIM:614961
HP:0004328	Abnormal anterior eye segment morphology	816	CAMK2B	OMIM:617799
HP:0004328	Abnormal anterior eye segment morphology	1108	CHD4	OMIM:617159
HP:0004328	Abnormal anterior eye segment morphology	708	C1QBP	OMIM:617713
HP:0004328	Abnormal anterior eye segment morphology	9241	NOG	OMIM:186500
HP:0004328	Abnormal anterior eye segment morphology	222663	SCUBE3	OMIM:619184
HP:0004328	Abnormal anterior eye segment morphology	6045	RNF2	OMIM:619460
HP:0004328	Abnormal anterior eye segment morphology	9757	KMT2B	OMIM:617284
HP:0004328	Abnormal anterior eye segment morphology	9757	KMT2B	OMIM:619934
HP:0004328	Abnormal anterior eye segment morphology	54681	P4HTM	OMIM:618493
HP:0004328	Abnormal anterior eye segment morphology	4761	NEUROD2	OMIM:618374
HP:0004328	Abnormal anterior eye segment morphology	26040	SETBP1	OMIM:616078
HP:0004328	Abnormal anterior eye segment morphology	57178	ZMIZ1	OMIM:618659
HP:0004328	Abnormal anterior eye segment morphology	23065	EMC1	OMIM:616875
HP:0004328	Abnormal anterior eye segment morphology	23065	EMC1	ORPHA:480898
HP:0004328	Abnormal anterior eye segment morphology	149461	CLDN19	OMIM:248190
HP:0004328	Abnormal anterior eye segment morphology	26834	RNU4-2	OMIM:620851
HP:0004328	Abnormal anterior eye segment morphology	165	AEBP1	ORPHA:536532
HP:0004328	Abnormal anterior eye segment morphology	2743	GLRB	OMIM:614619
HP:0004328	Abnormal anterior eye segment morphology	84265	POLR3GL	OMIM:619234
HP:0004328	Abnormal anterior eye segment morphology	57498	KIDINS220	OMIM:617296
HP:0004328	Abnormal anterior eye segment morphology	57003	CCDC47	OMIM:618268
HP:0004328	Abnormal anterior eye segment morphology	134218	DNAJC21	OMIM:617052
HP:0004328	Abnormal anterior eye segment morphology	51604	PIGT	ORPHA:369837
HP:0004328	Abnormal anterior eye segment morphology	4659	PPP1R12A	OMIM:618820
HP:0004328	Abnormal anterior eye segment morphology	3098	HK1	OMIM:618547
HP:0004328	Abnormal anterior eye segment morphology	9091	PIGQ	OMIM:618548
HP:0004328	Abnormal anterior eye segment morphology	283446	MYO1H	OMIM:619482
HP:0004328	Abnormal anterior eye segment morphology	57459	GATAD2B	ORPHA:363686
HP:0004328	Abnormal anterior eye segment morphology	388552	BLOC1S3	OMIM:614077
HP:0004328	Abnormal anterior eye segment morphology	29123	ANKRD11	ORPHA:261250
HP:0004328	Abnormal anterior eye segment morphology	4784	NFIX	OMIM:614753
HP:0004328	Abnormal anterior eye segment morphology	2890	GRIA1	OMIM:619927
HP:0004328	Abnormal anterior eye segment morphology	23261	CAMTA1	OMIM:614756
HP:0004328	Abnormal anterior eye segment morphology	51341	ZBTB7A	OMIM:619769
HP:0004328	Abnormal anterior eye segment morphology	51322	WAC	ORPHA:284169
HP:0004328	Abnormal anterior eye segment morphology	51322	WAC	OMIM:616708
HP:0004328	Abnormal anterior eye segment morphology	80267	EDEM3	OMIM:619493
HP:0004328	Abnormal anterior eye segment morphology	5528	PPP2R5D	ORPHA:457279
HP:0004328	Abnormal anterior eye segment morphology	7994	KAT6A	OMIM:616268
HP:0004328	Abnormal anterior eye segment morphology	1107	CHD3	OMIM:618205
HP:0004328	Abnormal anterior eye segment morphology	100151683	RNU4ATAC	ORPHA:1824
HP:0004328	Abnormal anterior eye segment morphology	23040	MYT1L	ORPHA:647799
HP:0004328	Abnormal anterior eye segment morphology	9181	ARHGEF2	OMIM:617523
HP:0004328	Abnormal anterior eye segment morphology	55294	FBXW7	OMIM:620012
HP:0004328	Abnormal anterior eye segment morphology	78987	CRELD1	OMIM:620771
HP:0004328	Abnormal anterior eye segment morphology	9898	UBAP2L	OMIM:620494
HP:0004328	Abnormal anterior eye segment morphology	23102	TBC1D2B	ORPHA:397973
HP:0004328	Abnormal anterior eye segment morphology	64221	ROBO3	OMIM:607313
HP:0004328	Abnormal anterior eye segment morphology	3778	KCNMA1	OMIM:618729
HP:0004328	Abnormal anterior eye segment morphology	5515	PPP2CA	OMIM:618354
HP:0004328	Abnormal anterior eye segment morphology	2245	FGD1	ORPHA:915
HP:0004328	Abnormal anterior eye segment morphology	7454	WAS	ORPHA:906
HP:0004328	Abnormal anterior eye segment morphology	7456	WIPF1	ORPHA:906
HP:0004328	Abnormal anterior eye segment morphology	1493	CTLA4	ORPHA:900
HP:0004328	Abnormal anterior eye segment morphology	3115	HLA-DPB1	ORPHA:900
HP:0004328	Abnormal anterior eye segment morphology	5657	PRTN3	ORPHA:900
HP:0004328	Abnormal anterior eye segment morphology	3113	HLA-DPA1	ORPHA:900
HP:0004328	Abnormal anterior eye segment morphology	22947	DUX4L1	ORPHA:269
HP:0004328	Abnormal anterior eye segment morphology	1789	DNMT3B	ORPHA:269
HP:0004328	Abnormal anterior eye segment morphology	2483	FRG1	ORPHA:269
HP:0004328	Abnormal anterior eye segment morphology	100288687	DUX4	ORPHA:269
HP:0004328	Abnormal anterior eye segment morphology	5429	POLH	OMIM:278750
HP:0004328	Abnormal anterior eye segment morphology	5429	POLH	ORPHA:90342
HP:0004328	Abnormal anterior eye segment morphology	55343	SLC35C1	ORPHA:99843
HP:0004328	Abnormal anterior eye segment morphology	5339	PLEC	OMIM:226670
HP:0004328	Abnormal anterior eye segment morphology	8218	CLTCL1	ORPHA:453510
HP:0004328	Abnormal anterior eye segment morphology	3572	IL6ST	OMIM:618523
HP:0004328	Abnormal anterior eye segment morphology	8626	TP63	ORPHA:1896
HP:0004328	Abnormal anterior eye segment morphology	242	ALOX12B	ORPHA:79394
HP:0004328	Abnormal anterior eye segment morphology	204219	CERS3	ORPHA:79394
HP:0004328	Abnormal anterior eye segment morphology	6820	SULT2B1	ORPHA:79394
HP:0004328	Abnormal anterior eye segment morphology	285848	PNPLA1	ORPHA:79394
HP:0004328	Abnormal anterior eye segment morphology	59344	ALOXE3	ORPHA:79394
HP:0004328	Abnormal anterior eye segment morphology	348938	NIPAL4	ORPHA:79394
HP:0004328	Abnormal anterior eye segment morphology	7051	TGM1	ORPHA:79394
HP:0004328	Abnormal anterior eye segment morphology	121214	SDR9C7	ORPHA:79394
HP:0004328	Abnormal anterior eye segment morphology	9244	CRLF1	OMIM:272430
HP:0004328	Abnormal anterior eye segment morphology	3850	KRT3	OMIM:618767
HP:0004328	Abnormal anterior eye segment morphology	4016	LOXL1	OMIM:177650
HP:0004328	Abnormal anterior eye segment morphology	22856	CHSY1	ORPHA:363417
HP:0004328	Abnormal anterior eye segment morphology	875	CBS	ORPHA:394
HP:0004328	Abnormal anterior eye segment morphology	1410	CRYAB	OMIM:608810
HP:0004328	Abnormal anterior eye segment morphology	1410	CRYAB	OMIM:615184
HP:0004328	Abnormal anterior eye segment morphology	26235	FBXL4	OMIM:615471
HP:0004328	Abnormal anterior eye segment morphology	83932	SPRTN	OMIM:616200
HP:0004328	Abnormal anterior eye segment morphology	54507	ADAMTSL4	ORPHA:1885
HP:0004328	Abnormal anterior eye segment morphology	54507	ADAMTSL4	OMIM:225200
HP:0004328	Abnormal anterior eye segment morphology	3145	HMBS	OMIM:620704
HP:0004328	Abnormal anterior eye segment morphology	1161	ERCC8	ORPHA:90324
HP:0004328	Abnormal anterior eye segment morphology	1161	ERCC8	ORPHA:90321
HP:0004328	Abnormal anterior eye segment morphology	1161	ERCC8	OMIM:216400
HP:0004328	Abnormal anterior eye segment morphology	2074	ERCC6	ORPHA:90324
HP:0004328	Abnormal anterior eye segment morphology	2074	ERCC6	ORPHA:90321
HP:0004328	Abnormal anterior eye segment morphology	2074	ERCC6	OMIM:214150
HP:0004328	Abnormal anterior eye segment morphology	2074	ERCC6	ORPHA:1466
HP:0004328	Abnormal anterior eye segment morphology	2972	BRF1	OMIM:616202
HP:0004328	Abnormal anterior eye segment morphology	2972	BRF1	ORPHA:444072
HP:0004328	Abnormal anterior eye segment morphology	60684	TRAPPC11	OMIM:615356
HP:0004328	Abnormal anterior eye segment morphology	60684	TRAPPC11	ORPHA:369840
HP:0004328	Abnormal anterior eye segment morphology	60684	TRAPPC11	ORPHA:369847
HP:0004328	Abnormal anterior eye segment morphology	4897	NRCAM	OMIM:619833
HP:0004328	Abnormal anterior eye segment morphology	81857	MED25	OMIM:616449
HP:0004328	Abnormal anterior eye segment morphology	1786	DNMT1	ORPHA:314404
HP:0004328	Abnormal anterior eye segment morphology	84942	WDR73	OMIM:251300
HP:0004328	Abnormal anterior eye segment morphology	1736	DKC1	OMIM:305000
HP:0004328	Abnormal anterior eye segment morphology	1736	DKC1	OMIM:301108
HP:0004328	Abnormal anterior eye segment morphology	1736	DKC1	ORPHA:1775
HP:0004328	Abnormal anterior eye segment morphology	2072	ERCC4	ORPHA:90321
HP:0004328	Abnormal anterior eye segment morphology	2072	ERCC4	ORPHA:84
HP:0004328	Abnormal anterior eye segment morphology	2072	ERCC4	ORPHA:910
HP:0004328	Abnormal anterior eye segment morphology	347733	TUBB2B	ORPHA:1766
HP:0004328	Abnormal anterior eye segment morphology	347733	TUBB2B	ORPHA:45358
HP:0004328	Abnormal anterior eye segment morphology	7436	VLDLR	ORPHA:1766
HP:0004328	Abnormal anterior eye segment morphology	7436	VLDLR	OMIM:224050
HP:0004328	Abnormal anterior eye segment morphology	124997	WDR81	ORPHA:1766
HP:0004328	Abnormal anterior eye segment morphology	51761	ATP8A2	ORPHA:1766
HP:0004328	Abnormal anterior eye segment morphology	767	CA8	ORPHA:1766
HP:0004328	Abnormal anterior eye segment morphology	114803	MYSM1	ORPHA:508542
HP:0004328	Abnormal anterior eye segment morphology	54714	CNGB3	OMIM:262300
HP:0004328	Abnormal anterior eye segment morphology	4149	MAX	OMIM:620712
HP:0004328	Abnormal anterior eye segment morphology	7486	WRN	OMIM:277700
HP:0004328	Abnormal anterior eye segment morphology	7486	WRN	ORPHA:902
HP:0004328	Abnormal anterior eye segment morphology	7086	TKT	ORPHA:488618
HP:0004328	Abnormal anterior eye segment morphology	3105	HLA-A	ORPHA:179
HP:0004328	Abnormal anterior eye segment morphology	112802	KRT71	ORPHA:170
HP:0004328	Abnormal anterior eye segment morphology	121391	KRT74	ORPHA:170
HP:0004328	Abnormal anterior eye segment morphology	200879	LIPH	ORPHA:170
HP:0004328	Abnormal anterior eye segment morphology	10161	LPAR6	ORPHA:170
HP:0004328	Abnormal anterior eye segment morphology	147183	KRT25	ORPHA:170
HP:0004328	Abnormal anterior eye segment morphology	23250	ATP11A	OMIM:619851
HP:0004328	Abnormal anterior eye segment morphology	1298	COL9A2	OMIM:614284
HP:0004328	Abnormal anterior eye segment morphology	1298	COL9A2	ORPHA:250984
HP:0004328	Abnormal anterior eye segment morphology	130589	GALM	OMIM:618881
HP:0004328	Abnormal anterior eye segment morphology	130589	GALM	ORPHA:570422
HP:0004328	Abnormal anterior eye segment morphology	2671	GFER	OMIM:613076
HP:0004328	Abnormal anterior eye segment morphology	79797	ZNF408	OMIM:616468
HP:0004328	Abnormal anterior eye segment morphology	79797	ZNF408	ORPHA:891
HP:0004328	Abnormal anterior eye segment morphology	54880	BCOR	ORPHA:2712
HP:0004328	Abnormal anterior eye segment morphology	54880	BCOR	ORPHA:568
HP:0004328	Abnormal anterior eye segment morphology	55699	IARS2	ORPHA:436174
HP:0004328	Abnormal anterior eye segment morphology	55699	IARS2	OMIM:616007
HP:0004328	Abnormal anterior eye segment morphology	51109	RDH11	OMIM:616108
HP:0004328	Abnormal anterior eye segment morphology	84100	ARL6	OMIM:209900
HP:0004328	Abnormal anterior eye segment morphology	84100	ARL6	ORPHA:110
HP:0004328	Abnormal anterior eye segment morphology	79140	CCDC28B	OMIM:209900
HP:0004328	Abnormal anterior eye segment morphology	582	BBS1	OMIM:209900
HP:0004328	Abnormal anterior eye segment morphology	582	BBS1	ORPHA:110
HP:0004328	Abnormal anterior eye segment morphology	79184	BRCC3	ORPHA:280679
HP:0004328	Abnormal anterior eye segment morphology	6100	RP9	OMIM:180104
HP:0004328	Abnormal anterior eye segment morphology	7020	TFAP2A	OMIM:113620
HP:0004328	Abnormal anterior eye segment morphology	7020	TFAP2A	ORPHA:1297
HP:0004328	Abnormal anterior eye segment morphology	2512	FTL	ORPHA:163
HP:0004328	Abnormal anterior eye segment morphology	2512	FTL	ORPHA:254704
HP:0004328	Abnormal anterior eye segment morphology	2512	FTL	OMIM:600886
HP:0004328	Abnormal anterior eye segment morphology	857	CAV1	OMIM:606721
HP:0004328	Abnormal anterior eye segment morphology	23347	SMCHD1	OMIM:603457
HP:0004328	Abnormal anterior eye segment morphology	23347	SMCHD1	ORPHA:2250
HP:0004328	Abnormal anterior eye segment morphology	8726	EED	OMIM:617561
HP:0004328	Abnormal anterior eye segment morphology	54968	TMEM70	OMIM:614052
HP:0004328	Abnormal anterior eye segment morphology	55214	P3H2	OMIM:614292
HP:0004328	Abnormal anterior eye segment morphology	64121	RRAGC	OMIM:620609
HP:0004328	Abnormal anterior eye segment morphology	1280	COL2A1	ORPHA:90653
HP:0004328	Abnormal anterior eye segment morphology	1280	COL2A1	ORPHA:1856
HP:0004328	Abnormal anterior eye segment morphology	1280	COL2A1	ORPHA:485
HP:0004328	Abnormal anterior eye segment morphology	1280	COL2A1	OMIM:132450
HP:0004328	Abnormal anterior eye segment morphology	1280	COL2A1	OMIM:156550
HP:0004328	Abnormal anterior eye segment morphology	1280	COL2A1	OMIM:108300
HP:0004328	Abnormal anterior eye segment morphology	1280	COL2A1	ORPHA:93296
HP:0004328	Abnormal anterior eye segment morphology	8550	MAPKAPK5	OMIM:619869
HP:0004328	Abnormal anterior eye segment morphology	4771	NF2	ORPHA:93921
HP:0004328	Abnormal anterior eye segment morphology	4771	NF2	OMIM:101000
HP:0004328	Abnormal anterior eye segment morphology	6598	SMARCB1	ORPHA:93921
HP:0004328	Abnormal anterior eye segment morphology	51004	COQ6	ORPHA:93921
HP:0004328	Abnormal anterior eye segment morphology	8216	LZTR1	ORPHA:93921
HP:0004328	Abnormal anterior eye segment morphology	1201	CLN3	OMIM:204200
HP:0004328	Abnormal anterior eye segment morphology	64132	XYLT2	ORPHA:85194
HP:0004328	Abnormal anterior eye segment morphology	64132	XYLT2	OMIM:605822
HP:0004328	Abnormal anterior eye segment morphology	23268	DNMBP	OMIM:618415
HP:0004328	Abnormal anterior eye segment morphology	81794	ADAMTS10	OMIM:277600
HP:0004328	Abnormal anterior eye segment morphology	81794	ADAMTS10	ORPHA:3449
HP:0004328	Abnormal anterior eye segment morphology	3981	LIG4	ORPHA:235
HP:0004328	Abnormal anterior eye segment morphology	54888	NSUN2	ORPHA:235
HP:0004328	Abnormal anterior eye segment morphology	92482	BBIP1	ORPHA:110
HP:0004328	Abnormal anterior eye segment morphology	92482	BBIP1	OMIM:615995
HP:0004328	Abnormal anterior eye segment morphology	80184	CEP290	ORPHA:110
HP:0004328	Abnormal anterior eye segment morphology	80184	CEP290	ORPHA:564
HP:0004328	Abnormal anterior eye segment morphology	80184	CEP290	ORPHA:3156
HP:0004328	Abnormal anterior eye segment morphology	80184	CEP290	ORPHA:65
HP:0004328	Abnormal anterior eye segment morphology	11020	IFT27	ORPHA:110
HP:0004328	Abnormal anterior eye segment morphology	49855	SCAPER	ORPHA:110
HP:0004328	Abnormal anterior eye segment morphology	4867	NPHP1	ORPHA:110
HP:0004328	Abnormal anterior eye segment morphology	4867	NPHP1	ORPHA:3156
HP:0004328	Abnormal anterior eye segment morphology	51057	WDPCP	ORPHA:110
HP:0004328	Abnormal anterior eye segment morphology	132320	SCLT1	ORPHA:110
HP:0004328	Abnormal anterior eye segment morphology	27241	BBS9	ORPHA:110
HP:0004328	Abnormal anterior eye segment morphology	27241	BBS9	OMIM:615986
HP:0004328	Abnormal anterior eye segment morphology	84984	CEP19	ORPHA:110
HP:0004328	Abnormal anterior eye segment morphology	22954	TRIM32	ORPHA:110
HP:0004328	Abnormal anterior eye segment morphology	54903	MKS1	ORPHA:110
HP:0004328	Abnormal anterior eye segment morphology	54903	MKS1	ORPHA:564
HP:0004328	Abnormal anterior eye segment morphology	79738	BBS10	ORPHA:110
HP:0004328	Abnormal anterior eye segment morphology	123016	TTC8	ORPHA:110
HP:0004328	Abnormal anterior eye segment morphology	26160	IFT172	ORPHA:110
HP:0004328	Abnormal anterior eye segment morphology	583	BBS2	ORPHA:110
HP:0004328	Abnormal anterior eye segment morphology	585	BBS4	ORPHA:110
HP:0004328	Abnormal anterior eye segment morphology	8195	MKKS	ORPHA:110
HP:0004328	Abnormal anterior eye segment morphology	54585	LZTFL1	ORPHA:110
HP:0004328	Abnormal anterior eye segment morphology	55212	BBS7	ORPHA:110
HP:0004328	Abnormal anterior eye segment morphology	166379	BBS12	ORPHA:110
HP:0004328	Abnormal anterior eye segment morphology	10806	SDCCAG8	ORPHA:110
HP:0004328	Abnormal anterior eye segment morphology	10806	SDCCAG8	ORPHA:3156
HP:0004328	Abnormal anterior eye segment morphology	157657	CFAP418	ORPHA:110
HP:0004328	Abnormal anterior eye segment morphology	157657	CFAP418	OMIM:614500
HP:0004328	Abnormal anterior eye segment morphology	129880	BBS5	ORPHA:110
HP:0004328	Abnormal anterior eye segment morphology	80173	IFT74	ORPHA:110
HP:0004328	Abnormal anterior eye segment morphology	2936	GSR	OMIM:618660
HP:0004328	Abnormal anterior eye segment morphology	3769	KCNJ13	OMIM:614186
HP:0004328	Abnormal anterior eye segment morphology	3769	KCNJ13	ORPHA:65
HP:0004328	Abnormal anterior eye segment morphology	3769	KCNJ13	OMIM:193230
HP:0004328	Abnormal anterior eye segment morphology	27125	AFF4	OMIM:616368
HP:0004328	Abnormal anterior eye segment morphology	27125	AFF4	ORPHA:444077
HP:0004328	Abnormal anterior eye segment morphology	2592	GALT	OMIM:230400
HP:0004328	Abnormal anterior eye segment morphology	2592	GALT	ORPHA:79239
HP:0004328	Abnormal anterior eye segment morphology	116115	ZNF526	OMIM:619877
HP:0004328	Abnormal anterior eye segment morphology	5590	PRKCZ	ORPHA:1606
HP:0004328	Abnormal anterior eye segment morphology	2563	GABRD	ORPHA:1606
HP:0004328	Abnormal anterior eye segment morphology	23013	SPEN	ORPHA:1606
HP:0004328	Abnormal anterior eye segment morphology	8510	MMP23B	ORPHA:1606
HP:0004328	Abnormal anterior eye segment morphology	7798	LUZP1	ORPHA:1606
HP:0004328	Abnormal anterior eye segment morphology	6497	SKI	ORPHA:1606
HP:0004328	Abnormal anterior eye segment morphology	10630	PDPN	ORPHA:1606
HP:0004328	Abnormal anterior eye segment morphology	3339	HSPG2	ORPHA:1606
HP:0004328	Abnormal anterior eye segment morphology	3339	HSPG2	OMIM:255800
HP:0004328	Abnormal anterior eye segment morphology	3339	HSPG2	OMIM:224410
HP:0004328	Abnormal anterior eye segment morphology	3339	HSPG2	ORPHA:800
HP:0004328	Abnormal anterior eye segment morphology	10277	UBE4B	ORPHA:1606
HP:0004328	Abnormal anterior eye segment morphology	8514	KCNAB2	ORPHA:1606
HP:0004328	Abnormal anterior eye segment morphology	473	RERE	ORPHA:1606
HP:0004328	Abnormal anterior eye segment morphology	63976	PRDM16	ORPHA:1606
HP:0004328	Abnormal anterior eye segment morphology	54897	CASZ1	ORPHA:1606
HP:0004328	Abnormal anterior eye segment morphology	415	ARSL	ORPHA:79345
HP:0004328	Abnormal anterior eye segment morphology	415	ARSL	OMIM:302950
HP:0004328	Abnormal anterior eye segment morphology	229	ALDOB	ORPHA:469
HP:0004328	Abnormal anterior eye segment morphology	85365	ALG2	ORPHA:79326
HP:0004328	Abnormal anterior eye segment morphology	85365	ALG2	OMIM:607906
HP:0004328	Abnormal anterior eye segment morphology	5605	MAP2K2	OMIM:615280
HP:0004328	Abnormal anterior eye segment morphology	253959	RALGAPA1	OMIM:618797
HP:0004328	Abnormal anterior eye segment morphology	2232	FDXR	ORPHA:543470
HP:0004328	Abnormal anterior eye segment morphology	3913	LAMB2	OMIM:614199
HP:0004328	Abnormal anterior eye segment morphology	3913	LAMB2	OMIM:609049
HP:0004328	Abnormal anterior eye segment morphology	4285	MIPEP	OMIM:617228
HP:0004328	Abnormal anterior eye segment morphology	9562	MINPP1	OMIM:619527
HP:0004328	Abnormal anterior eye segment morphology	26154	ABCA12	ORPHA:457
HP:0004328	Abnormal anterior eye segment morphology	5373	PMM2	ORPHA:79318
HP:0004328	Abnormal anterior eye segment morphology	5727	PTCH1	ORPHA:377
HP:0004328	Abnormal anterior eye segment morphology	5727	PTCH1	OMIM:109400
HP:0004328	Abnormal anterior eye segment morphology	5727	PTCH1	ORPHA:77301
HP:0004328	Abnormal anterior eye segment morphology	8643	PTCH2	ORPHA:377
HP:0004328	Abnormal anterior eye segment morphology	51684	SUFU	ORPHA:377
HP:0004328	Abnormal anterior eye segment morphology	57724	EPG5	OMIM:242840
HP:0004328	Abnormal anterior eye segment morphology	57724	EPG5	ORPHA:1493
HP:0004328	Abnormal anterior eye segment morphology	55739	NAXD	OMIM:618321
HP:0004328	Abnormal anterior eye segment morphology	326	AIRE	OMIM:240300
HP:0004328	Abnormal anterior eye segment morphology	326	AIRE	ORPHA:3453
HP:0004328	Abnormal anterior eye segment morphology	57479	PRR12	OMIM:619539
HP:0004328	Abnormal anterior eye segment morphology	5741	PTH	OMIM:146200
HP:0004328	Abnormal anterior eye segment morphology	2303	FOXC2	ORPHA:33001
HP:0004328	Abnormal anterior eye segment morphology	10195	ALG3	ORPHA:79321
HP:0004328	Abnormal anterior eye segment morphology	64127	NOD2	ORPHA:90340
HP:0004328	Abnormal anterior eye segment morphology	64127	NOD2	OMIM:186580
HP:0004328	Abnormal anterior eye segment morphology	2778	GNAS	ORPHA:79443
HP:0004328	Abnormal anterior eye segment morphology	2778	GNAS	ORPHA:79444
HP:0004328	Abnormal anterior eye segment morphology	2778	GNAS	ORPHA:94089
HP:0004328	Abnormal anterior eye segment morphology	2778	GNAS	OMIM:612463
HP:0004328	Abnormal anterior eye segment morphology	2778	GNAS	OMIM:612462
HP:0004328	Abnormal anterior eye segment morphology	2778	GNAS	OMIM:103580
HP:0004328	Abnormal anterior eye segment morphology	84295	PHF6	ORPHA:127
HP:0004328	Abnormal anterior eye segment morphology	79053	ALG8	ORPHA:79325
HP:0004328	Abnormal anterior eye segment morphology	9896	FIG4	OMIM:216340
HP:0004328	Abnormal anterior eye segment morphology	9896	FIG4	ORPHA:3472
HP:0004328	Abnormal anterior eye segment morphology	257	ALX3	OMIM:136760
HP:0004328	Abnormal anterior eye segment morphology	257	ALX3	ORPHA:391474
HP:0004328	Abnormal anterior eye segment morphology	23676	SMPX	OMIM:301075
HP:0004328	Abnormal anterior eye segment morphology	404672	GTF2H5	OMIM:616395
HP:0004328	Abnormal anterior eye segment morphology	1387	CREBBP	OMIM:618332
HP:0004328	Abnormal anterior eye segment morphology	1387	CREBBP	ORPHA:353281
HP:0004328	Abnormal anterior eye segment morphology	1387	CREBBP	OMIM:180849
HP:0004328	Abnormal anterior eye segment morphology	1387	CREBBP	ORPHA:353277
HP:0004328	Abnormal anterior eye segment morphology	9742	IFT140	OMIM:266920
HP:0004328	Abnormal anterior eye segment morphology	9742	IFT140	ORPHA:65
HP:0004328	Abnormal anterior eye segment morphology	81570	CLPB	OMIM:616271
HP:0004328	Abnormal anterior eye segment morphology	81570	CLPB	ORPHA:445038
HP:0004328	Abnormal anterior eye segment morphology	81570	CLPB	OMIM:619813
HP:0004328	Abnormal anterior eye segment morphology	58497	PRUNE1	OMIM:617481
HP:0004328	Abnormal anterior eye segment morphology	58497	PRUNE1	ORPHA:544469
HP:0004328	Abnormal anterior eye segment morphology	3980	LIG3	OMIM:619780
HP:0004328	Abnormal anterior eye segment morphology	26173	INTS1	OMIM:618571
HP:0004328	Abnormal anterior eye segment morphology	84695	LOXL3	OMIM:619781
HP:0004328	Abnormal anterior eye segment morphology	22930	RAB3GAP1	OMIM:619420
HP:0004328	Abnormal anterior eye segment morphology	22930	RAB3GAP1	ORPHA:1387
HP:0004328	Abnormal anterior eye segment morphology	22930	RAB3GAP1	ORPHA:2510
HP:0004328	Abnormal anterior eye segment morphology	84188	FAR1	OMIM:616154
HP:0004328	Abnormal anterior eye segment morphology	84188	FAR1	OMIM:619338
HP:0004328	Abnormal anterior eye segment morphology	3000	GUCY2D	OMIM:204000
HP:0004328	Abnormal anterior eye segment morphology	3000	GUCY2D	ORPHA:65
HP:0004328	Abnormal anterior eye segment morphology	29968	PSAT1	OMIM:616038
HP:0004328	Abnormal anterior eye segment morphology	27429	HTRA2	OMIM:617248
HP:0004328	Abnormal anterior eye segment morphology	5908	RAP1B	OMIM:620654
HP:0004328	Abnormal anterior eye segment morphology	2582	GALE	OMIM:620776
HP:0004328	Abnormal anterior eye segment morphology	389827	MYMK	OMIM:254940
HP:0004328	Abnormal anterior eye segment morphology	149233	IL23R	ORPHA:117
HP:0004328	Abnormal anterior eye segment morphology	6775	STAT4	ORPHA:117
HP:0004328	Abnormal anterior eye segment morphology	6775	STAT4	ORPHA:85410
HP:0004328	Abnormal anterior eye segment morphology	3586	IL10	ORPHA:117
HP:0004328	Abnormal anterior eye segment morphology	4210	MEFV	ORPHA:117
HP:0004328	Abnormal anterior eye segment morphology	1230	CCR1	ORPHA:117
HP:0004328	Abnormal anterior eye segment morphology	355	FAS	ORPHA:117
HP:0004328	Abnormal anterior eye segment morphology	355	FAS	ORPHA:3437
HP:0004328	Abnormal anterior eye segment morphology	3592	IL12A	ORPHA:117
HP:0004328	Abnormal anterior eye segment morphology	101928376	IL12A-AS1	ORPHA:117
HP:0004328	Abnormal anterior eye segment morphology	3106	HLA-B	ORPHA:117
HP:0004328	Abnormal anterior eye segment morphology	7099	TLR4	ORPHA:117
HP:0004328	Abnormal anterior eye segment morphology	3459	IFNGR1	ORPHA:117
HP:0004328	Abnormal anterior eye segment morphology	720	C4A	ORPHA:117
HP:0004328	Abnormal anterior eye segment morphology	337867	UBAC2	ORPHA:117
HP:0004328	Abnormal anterior eye segment morphology	51752	ERAP1	ORPHA:117
HP:0004328	Abnormal anterior eye segment morphology	8302	KLRC4	ORPHA:117
HP:0004328	Abnormal anterior eye segment morphology	9949	AMMECR1	OMIM:300990
HP:0004328	Abnormal anterior eye segment morphology	5428	POLG	ORPHA:254892
HP:0004328	Abnormal anterior eye segment morphology	5428	POLG	OMIM:157640
HP:0004328	Abnormal anterior eye segment morphology	5428	POLG	OMIM:607459
HP:0004328	Abnormal anterior eye segment morphology	5428	POLG	ORPHA:70595
HP:0004328	Abnormal anterior eye segment morphology	56652	TWNK	ORPHA:254892
HP:0004328	Abnormal anterior eye segment morphology	56652	TWNK	OMIM:609286
HP:0004328	Abnormal anterior eye segment morphology	56652	TWNK	OMIM:607459
HP:0004328	Abnormal anterior eye segment morphology	56652	TWNK	ORPHA:70595
HP:0004328	Abnormal anterior eye segment morphology	11232	POLG2	ORPHA:254892
HP:0004328	Abnormal anterior eye segment morphology	50484	RRM2B	ORPHA:254892
HP:0004328	Abnormal anterior eye segment morphology	50484	RRM2B	OMIM:268315
HP:0004328	Abnormal anterior eye segment morphology	9361	LONP1	OMIM:600373
HP:0004328	Abnormal anterior eye segment morphology	9361	LONP1	ORPHA:1458
HP:0004328	Abnormal anterior eye segment morphology	3912	LAMB1	OMIM:615191
HP:0004328	Abnormal anterior eye segment morphology	51422	PRKAG2	OMIM:261740
HP:0004328	Abnormal anterior eye segment morphology	4598	MVK	ORPHA:29
HP:0004328	Abnormal anterior eye segment morphology	4598	MVK	OMIM:610377
HP:0004328	Abnormal anterior eye segment morphology	9785	DHX38	OMIM:618220
HP:0004328	Abnormal anterior eye segment morphology	160418	TMTC3	OMIM:617255
HP:0004328	Abnormal anterior eye segment morphology	79876	UBA5	OMIM:617133
HP:0004328	Abnormal anterior eye segment morphology	335	APOA1	OMIM:618463
HP:0004328	Abnormal anterior eye segment morphology	55505	NOP10	OMIM:620425
HP:0004328	Abnormal anterior eye segment morphology	55505	NOP10	ORPHA:1775
HP:0004328	Abnormal anterior eye segment morphology	1798	DPAGT1	OMIM:608093
HP:0004328	Abnormal anterior eye segment morphology	2355	FOSL2	OMIM:620789
HP:0004328	Abnormal anterior eye segment morphology	8675	STX16	ORPHA:94089
HP:0004328	Abnormal anterior eye segment morphology	10733	PLK4	OMIM:616171
HP:0004328	Abnormal anterior eye segment morphology	1294	COL7A1	OMIM:226600
HP:0004328	Abnormal anterior eye segment morphology	26610	ELP4	OMIM:617141
HP:0004328	Abnormal anterior eye segment morphology	5053	PAH	OMIM:261600
HP:0004328	Abnormal anterior eye segment morphology	5053	PAH	ORPHA:79254
HP:0004328	Abnormal anterior eye segment morphology	2033	EP300	ORPHA:353284
HP:0004328	Abnormal anterior eye segment morphology	2033	EP300	OMIM:180849
HP:0004328	Abnormal anterior eye segment morphology	2250	FGF5	OMIM:190330
HP:0004328	Abnormal anterior eye segment morphology	25885	POLR1A	OMIM:620675
HP:0004328	Abnormal anterior eye segment morphology	8892	EIF2B2	OMIM:620312
HP:0004328	Abnormal anterior eye segment morphology	1760	DMPK	OMIM:160900
HP:0004328	Abnormal anterior eye segment morphology	1760	DMPK	ORPHA:589821
HP:0004328	Abnormal anterior eye segment morphology	4942	OAT	ORPHA:414
HP:0004328	Abnormal anterior eye segment morphology	147409	DSG4	ORPHA:573
HP:0004328	Abnormal anterior eye segment morphology	3892	KRT86	ORPHA:573
HP:0004328	Abnormal anterior eye segment morphology	3889	KRT83	ORPHA:573
HP:0004328	Abnormal anterior eye segment morphology	3887	KRT81	ORPHA:573
HP:0004328	Abnormal anterior eye segment morphology	10059	DNM1L	ORPHA:98673
HP:0004328	Abnormal anterior eye segment morphology	4976	OPA1	ORPHA:98673
HP:0004328	Abnormal anterior eye segment morphology	28982	FLVCR1	ORPHA:88628
HP:0004328	Abnormal anterior eye segment morphology	28982	FLVCR1	OMIM:609033
HP:0004328	Abnormal anterior eye segment morphology	63925	ZNF335	OMIM:615095
HP:0004328	Abnormal anterior eye segment morphology	112939	NACC1	OMIM:617393
HP:0004328	Abnormal anterior eye segment morphology	92255	LMBRD2	OMIM:619694
HP:0004328	Abnormal anterior eye segment morphology	3756	KCNH1	OMIM:135500
HP:0004328	Abnormal anterior eye segment morphology	3756	KCNH1	ORPHA:3473
HP:0004328	Abnormal anterior eye segment morphology	400569	MED11	OMIM:620327
HP:0004328	Abnormal anterior eye segment morphology	91851	CHRDL1	OMIM:309300
HP:0004328	Abnormal anterior eye segment morphology	6102	RP2	OMIM:312600
HP:0004328	Abnormal anterior eye segment morphology	1009	CDH11	OMIM:211380
HP:0004328	Abnormal anterior eye segment morphology	8260	NAA10	ORPHA:568
HP:0004328	Abnormal anterior eye segment morphology	444	ASPH	OMIM:601552
HP:0004328	Abnormal anterior eye segment morphology	10483	SEC23B	ORPHA:201
HP:0004328	Abnormal anterior eye segment morphology	6390	SDHB	ORPHA:201
HP:0004328	Abnormal anterior eye segment morphology	6392	SDHD	ORPHA:201
HP:0004328	Abnormal anterior eye segment morphology	6391	SDHC	ORPHA:201
HP:0004328	Abnormal anterior eye segment morphology	205717	USF3	ORPHA:201
HP:0004328	Abnormal anterior eye segment morphology	5290	PIK3CA	ORPHA:201
HP:0004328	Abnormal anterior eye segment morphology	5290	PIK3CA	OMIM:615108
HP:0004328	Abnormal anterior eye segment morphology	100144748	KLLN	ORPHA:201
HP:0004328	Abnormal anterior eye segment morphology	84314	TMEM107	ORPHA:564
HP:0004328	Abnormal anterior eye segment morphology	26123	TCTN3	ORPHA:564
HP:0004328	Abnormal anterior eye segment morphology	79867	TCTN2	ORPHA:564
HP:0004328	Abnormal anterior eye segment morphology	80776	B9D2	ORPHA:564
HP:0004328	Abnormal anterior eye segment morphology	79600	TCTN1	ORPHA:564
HP:0004328	Abnormal anterior eye segment morphology	57096	RPGRIP1	ORPHA:564
HP:0004328	Abnormal anterior eye segment morphology	57096	RPGRIP1	OMIM:613826
HP:0004328	Abnormal anterior eye segment morphology	57096	RPGRIP1	ORPHA:65
HP:0004328	Abnormal anterior eye segment morphology	79848	CSPP1	ORPHA:564
HP:0004328	Abnormal anterior eye segment morphology	51259	TMEM216	ORPHA:564
HP:0004328	Abnormal anterior eye segment morphology	57545	CC2D2A	ORPHA:564
HP:0004328	Abnormal anterior eye segment morphology	57545	CC2D2A	OMIM:612285
HP:0004328	Abnormal anterior eye segment morphology	79583	TMEM231	ORPHA:564
HP:0004328	Abnormal anterior eye segment morphology	91147	TMEM67	ORPHA:564
HP:0004328	Abnormal anterior eye segment morphology	79770	TXNDC15	ORPHA:564
HP:0004328	Abnormal anterior eye segment morphology	27077	B9D1	ORPHA:564
HP:0004328	Abnormal anterior eye segment morphology	23322	RPGRIP1L	ORPHA:564
HP:0004328	Abnormal anterior eye segment morphology	65062	TMEM237	ORPHA:564
HP:0004328	Abnormal anterior eye segment morphology	2583	B4GALNT1	ORPHA:101006
HP:0004328	Abnormal anterior eye segment morphology	10002	NR2E3	OMIM:268100
HP:0004328	Abnormal anterior eye segment morphology	372	ARCN1	OMIM:617164
HP:0004328	Abnormal anterior eye segment morphology	11342	RNF13	OMIM:618379
HP:0004328	Abnormal anterior eye segment morphology	11342	RNF13	ORPHA:544503
HP:0004328	Abnormal anterior eye segment morphology	2071	ERCC3	OMIM:610651
HP:0004328	Abnormal anterior eye segment morphology	2071	ERCC3	ORPHA:910
HP:0004328	Abnormal anterior eye segment morphology	79644	SRD5A3	OMIM:612713
HP:0004328	Abnormal anterior eye segment morphology	79644	SRD5A3	ORPHA:324737
HP:0004328	Abnormal anterior eye segment morphology	79644	SRD5A3	OMIM:612379
HP:0004328	Abnormal anterior eye segment morphology	4990	SIX6	OMIM:206900
HP:0004328	Abnormal anterior eye segment morphology	4990	SIX6	OMIM:212550
HP:0004328	Abnormal anterior eye segment morphology	6657	SOX2	OMIM:206900
HP:0004328	Abnormal anterior eye segment morphology	6297	SALL2	OMIM:216820
HP:0004328	Abnormal anterior eye segment morphology	5158	PDE6B	OMIM:613801
HP:0004328	Abnormal anterior eye segment morphology	64374	SIL1	ORPHA:559
HP:0004328	Abnormal anterior eye segment morphology	56244	BTNL2	ORPHA:797
HP:0004328	Abnormal anterior eye segment morphology	3123	HLA-DRB1	ORPHA:797
HP:0004328	Abnormal anterior eye segment morphology	6711	SPTBN1	OMIM:619475
HP:0004328	Abnormal anterior eye segment morphology	1286	COL4A4	OMIM:203780
HP:0004328	Abnormal anterior eye segment morphology	6513	SLC2A1	ORPHA:168577
HP:0004328	Abnormal anterior eye segment morphology	6513	SLC2A1	OMIM:608885
HP:0004328	Abnormal anterior eye segment morphology	4810	NHS	ORPHA:627
HP:0004328	Abnormal anterior eye segment morphology	6050	RNH1	OMIM:620461
HP:0004328	Abnormal anterior eye segment morphology	526	ATP6V1B2	ORPHA:79500
HP:0004328	Abnormal anterior eye segment morphology	526	ATP6V1B2	ORPHA:3473
HP:0004328	Abnormal anterior eye segment morphology	57465	TBC1D24	ORPHA:79500
HP:0004328	Abnormal anterior eye segment morphology	57465	TBC1D24	OMIM:220500
HP:0004328	Abnormal anterior eye segment morphology	1412	CRYBA2	OMIM:115900
HP:0004328	Abnormal anterior eye segment morphology	215	ABCD1	ORPHA:369942
HP:0004328	Abnormal anterior eye segment morphology	10134	BCAP31	ORPHA:369942
HP:0004328	Abnormal anterior eye segment morphology	8720	MBTPS1	OMIM:618392
HP:0004328	Abnormal anterior eye segment morphology	25839	COG4	OMIM:618150
HP:0004328	Abnormal anterior eye segment morphology	25839	COG4	ORPHA:85172
HP:0004328	Abnormal anterior eye segment morphology	10682	EBP	OMIM:300960
HP:0004328	Abnormal anterior eye segment morphology	10682	EBP	ORPHA:401973
HP:0004328	Abnormal anterior eye segment morphology	10682	EBP	ORPHA:35173
HP:0004328	Abnormal anterior eye segment morphology	10682	EBP	OMIM:302960
HP:0004328	Abnormal anterior eye segment morphology	84172	POLR1B	ORPHA:861
HP:0004328	Abnormal anterior eye segment morphology	9533	POLR1C	ORPHA:861
HP:0004328	Abnormal anterior eye segment morphology	51082	POLR1D	ORPHA:861
HP:0004328	Abnormal anterior eye segment morphology	6949	TCOF1	ORPHA:861
HP:0004328	Abnormal anterior eye segment morphology	8239	USP9X	OMIM:300968
HP:0004328	Abnormal anterior eye segment morphology	8239	USP9X	ORPHA:480880
HP:0004328	Abnormal anterior eye segment morphology	57477	SHROOM4	ORPHA:85288
HP:0004328	Abnormal anterior eye segment morphology	57704	GBA2	ORPHA:320391
HP:0004328	Abnormal anterior eye segment morphology	57704	GBA2	OMIM:614409
HP:0004328	Abnormal anterior eye segment morphology	3516	RBPJ	ORPHA:974
HP:0004328	Abnormal anterior eye segment morphology	4851	NOTCH1	ORPHA:974
HP:0004328	Abnormal anterior eye segment morphology	57514	ARHGAP31	ORPHA:974
HP:0004328	Abnormal anterior eye segment morphology	57572	DOCK6	ORPHA:974
HP:0004328	Abnormal anterior eye segment morphology	285203	EOGT	ORPHA:974
HP:0004328	Abnormal anterior eye segment morphology	54567	DLL4	ORPHA:974
HP:0004328	Abnormal anterior eye segment morphology	1406	CRX	OMIM:613829
HP:0004328	Abnormal anterior eye segment morphology	1406	CRX	ORPHA:65
HP:0004328	Abnormal anterior eye segment morphology	627	BDNF	ORPHA:893
HP:0004328	Abnormal anterior eye segment morphology	5264	PHYH	ORPHA:773
HP:0004328	Abnormal anterior eye segment morphology	5264	PHYH	OMIM:266500
HP:0004328	Abnormal anterior eye segment morphology	5191	PEX7	ORPHA:773
HP:0004328	Abnormal anterior eye segment morphology	5191	PEX7	OMIM:614879
HP:0004328	Abnormal anterior eye segment morphology	5191	PEX7	OMIM:266500
HP:0004328	Abnormal anterior eye segment morphology	1499	CTNNB1	ORPHA:891
HP:0004328	Abnormal anterior eye segment morphology	23554	TSPAN12	ORPHA:891
HP:0004328	Abnormal anterior eye segment morphology	26137	ZBTB20	ORPHA:3042
HP:0004328	Abnormal anterior eye segment morphology	10084	PQBP1	OMIM:309500
HP:0004328	Abnormal anterior eye segment morphology	1315	COPB1	OMIM:619255
HP:0004328	Abnormal anterior eye segment morphology	284058	KANSL1	OMIM:610443
HP:0004328	Abnormal anterior eye segment morphology	5557	PRIM1	OMIM:620005
HP:0004328	Abnormal anterior eye segment morphology	23418	CRB1	OMIM:613835
HP:0004328	Abnormal anterior eye segment morphology	23418	CRB1	ORPHA:65
HP:0004328	Abnormal anterior eye segment morphology	10295	BCKDK	OMIM:614923
HP:0004328	Abnormal anterior eye segment morphology	2271	FH	ORPHA:523
HP:0004328	Abnormal anterior eye segment morphology	5076	PAX2	OMIM:120330
HP:0004328	Abnormal anterior eye segment morphology	64802	NMNAT1	OMIM:619260
HP:0004328	Abnormal anterior eye segment morphology	64802	NMNAT1	ORPHA:65
HP:0004328	Abnormal anterior eye segment morphology	55181	SMG8	OMIM:619268
HP:0004328	Abnormal anterior eye segment morphology	87178	PNPT1	OMIM:614932
HP:0004328	Abnormal anterior eye segment morphology	161742	SPRED1	ORPHA:137605
HP:0004328	Abnormal anterior eye segment morphology	1462	VCAN	OMIM:143200
HP:0004328	Abnormal anterior eye segment morphology	26146	TRAF3IP1	ORPHA:3156
HP:0004328	Abnormal anterior eye segment morphology	9657	IQCB1	ORPHA:3156
HP:0004328	Abnormal anterior eye segment morphology	9657	IQCB1	ORPHA:65
HP:0004328	Abnormal anterior eye segment morphology	27130	INVS	ORPHA:3156
HP:0004328	Abnormal anterior eye segment morphology	261734	NPHP4	ORPHA:3156
HP:0004328	Abnormal anterior eye segment morphology	57728	WDR19	ORPHA:3156
HP:0004328	Abnormal anterior eye segment morphology	57728	WDR19	OMIM:614376
HP:0004328	Abnormal anterior eye segment morphology	27031	NPHP3	ORPHA:3156
HP:0004328	Abnormal anterior eye segment morphology	22897	CEP164	ORPHA:3156
HP:0004328	Abnormal anterior eye segment morphology	9987	HNRNPDL	OMIM:609115
HP:0004328	Abnormal anterior eye segment morphology	80036	TRPM3	OMIM:620253
HP:0004328	Abnormal anterior eye segment morphology	6309	SC5D	ORPHA:46059
HP:0004328	Abnormal anterior eye segment morphology	6309	SC5D	OMIM:607330
HP:0004328	Abnormal anterior eye segment morphology	3560	IL2RB	ORPHA:85410
HP:0004328	Abnormal anterior eye segment morphology	79722	ANKRD55	ORPHA:85410
HP:0004328	Abnormal anterior eye segment morphology	26191	PTPN22	ORPHA:85410
HP:0004328	Abnormal anterior eye segment morphology	26191	PTPN22	ORPHA:3437
HP:0004328	Abnormal anterior eye segment morphology	919	CD247	ORPHA:85410
HP:0004328	Abnormal anterior eye segment morphology	3559	IL2RA	ORPHA:85410
HP:0004328	Abnormal anterior eye segment morphology	5771	PTPN2	ORPHA:85410
HP:0004328	Abnormal anterior eye segment morphology	83700	JAM3	OMIM:613730
HP:0004328	Abnormal anterior eye segment morphology	652	BMP4	ORPHA:828
HP:0004328	Abnormal anterior eye segment morphology	652	BMP4	ORPHA:139471
HP:0004328	Abnormal anterior eye segment morphology	1593	CYP27A1	OMIM:213700
HP:0004328	Abnormal anterior eye segment morphology	6010	RHO	OMIM:613731
HP:0004328	Abnormal anterior eye segment morphology	80207	OPA3	OMIM:165300
HP:0004328	Abnormal anterior eye segment morphology	80207	OPA3	ORPHA:67036
HP:0004328	Abnormal anterior eye segment morphology	9839	ZEB2	OMIM:235730
HP:0004328	Abnormal anterior eye segment morphology	9839	ZEB2	ORPHA:261552
HP:0004328	Abnormal anterior eye segment morphology	9839	ZEB2	ORPHA:261537
HP:0004328	Abnormal anterior eye segment morphology	64324	NSD1	ORPHA:821
HP:0004328	Abnormal anterior eye segment morphology	10297	APC2	ORPHA:821
HP:0004328	Abnormal anterior eye segment morphology	9401	RECQL4	OMIM:268400
HP:0004328	Abnormal anterior eye segment morphology	55112	DYNC2I1	ORPHA:93271
HP:0004328	Abnormal anterior eye segment morphology	57560	IFT80	ORPHA:93271
HP:0004328	Abnormal anterior eye segment morphology	57539	WDR35	ORPHA:93271
HP:0004328	Abnormal anterior eye segment morphology	79659	DYNC2H1	ORPHA:93271
HP:0004328	Abnormal anterior eye segment morphology	89891	DYNC2I2	ORPHA:93271
HP:0004328	Abnormal anterior eye segment morphology	8443	GNPAT	OMIM:222765
HP:0004328	Abnormal anterior eye segment morphology	9442	MED27	OMIM:619286
HP:0004328	Abnormal anterior eye segment morphology	23600	AMACR	ORPHA:79095
HP:0004328	Abnormal anterior eye segment morphology	23600	AMACR	OMIM:614307
HP:0004328	Abnormal anterior eye segment morphology	56623	INPP5E	ORPHA:75858
HP:0004328	Abnormal anterior eye segment morphology	56623	INPP5E	OMIM:610156
HP:0004328	Abnormal anterior eye segment morphology	1717	DHCR7	ORPHA:818
HP:0004328	Abnormal anterior eye segment morphology	1717	DHCR7	OMIM:270400
HP:0004328	Abnormal anterior eye segment morphology	25782	RAB3GAP2	OMIM:212720
HP:0004328	Abnormal anterior eye segment morphology	25782	RAB3GAP2	ORPHA:1387
HP:0004328	Abnormal anterior eye segment morphology	25782	RAB3GAP2	OMIM:614225
HP:0004328	Abnormal anterior eye segment morphology	25782	RAB3GAP2	ORPHA:401830
HP:0004328	Abnormal anterior eye segment morphology	25782	RAB3GAP2	ORPHA:2510
HP:0004328	Abnormal anterior eye segment morphology	29072	SETD2	OMIM:620157
HP:0004328	Abnormal anterior eye segment morphology	29072	SETD2	OMIM:620155
HP:0004328	Abnormal anterior eye segment morphology	30061	SLC40A1	OMIM:606069
HP:0004328	Abnormal anterior eye segment morphology	4038	LRP4	ORPHA:3258
HP:0004328	Abnormal anterior eye segment morphology	324	APC	ORPHA:3258
HP:0004328	Abnormal anterior eye segment morphology	4072	EPCAM	ORPHA:92050
HP:0004328	Abnormal anterior eye segment morphology	105371045	PERCC1	ORPHA:92050
HP:0004328	Abnormal anterior eye segment morphology	4509	MT-ATP8	ORPHA:254913
HP:0004328	Abnormal anterior eye segment morphology	514	ATP5F1E	ORPHA:254913
HP:0004328	Abnormal anterior eye segment morphology	513	ATP5F1D	ORPHA:254913
HP:0004328	Abnormal anterior eye segment morphology	498	ATP5F1A	ORPHA:254913
HP:0004328	Abnormal anterior eye segment morphology	4508	MT-ATP6	ORPHA:254913
HP:0004328	Abnormal anterior eye segment morphology	84833	ATP5MK	ORPHA:254913
HP:0004328	Abnormal anterior eye segment morphology	91647	ATPAF2	ORPHA:254913
HP:0004328	Abnormal anterior eye segment morphology	1716	DGUOK	ORPHA:329314
HP:0004328	Abnormal anterior eye segment morphology	284252	KCTD1	ORPHA:2036
HP:0004328	Abnormal anterior eye segment morphology	284252	KCTD1	OMIM:181270
HP:0004328	Abnormal anterior eye segment morphology	5015	OTX2	OMIM:610125
HP:0004328	Abnormal anterior eye segment morphology	7555	CNBP	ORPHA:606
HP:0004328	Abnormal anterior eye segment morphology	55107	ANO1	OMIM:620045
HP:0004328	Abnormal anterior eye segment morphology	672	BRCA1	ORPHA:84
HP:0004328	Abnormal anterior eye segment morphology	10459	MAD2L2	ORPHA:84
HP:0004328	Abnormal anterior eye segment morphology	7516	XRCC2	ORPHA:84
HP:0004328	Abnormal anterior eye segment morphology	29089	UBE2T	ORPHA:84
HP:0004328	Abnormal anterior eye segment morphology	675	BRCA2	ORPHA:84
HP:0004328	Abnormal anterior eye segment morphology	55120	FANCL	ORPHA:84
HP:0004328	Abnormal anterior eye segment morphology	2177	FANCD2	ORPHA:84
HP:0004328	Abnormal anterior eye segment morphology	2175	FANCA	ORPHA:84
HP:0004328	Abnormal anterior eye segment morphology	2187	FANCB	ORPHA:84
HP:0004328	Abnormal anterior eye segment morphology	2176	FANCC	ORPHA:84
HP:0004328	Abnormal anterior eye segment morphology	2178	FANCE	ORPHA:84
HP:0004328	Abnormal anterior eye segment morphology	2188	FANCF	ORPHA:84
HP:0004328	Abnormal anterior eye segment morphology	2189	FANCG	ORPHA:84
HP:0004328	Abnormal anterior eye segment morphology	5888	RAD51	ORPHA:84
HP:0004328	Abnormal anterior eye segment morphology	5889	RAD51C	ORPHA:84
HP:0004328	Abnormal anterior eye segment morphology	55159	RFWD3	ORPHA:84
HP:0004328	Abnormal anterior eye segment morphology	83990	BRIP1	ORPHA:84
HP:0004328	Abnormal anterior eye segment morphology	57697	FANCM	ORPHA:84
HP:0004328	Abnormal anterior eye segment morphology	79728	PALB2	ORPHA:84
HP:0004328	Abnormal anterior eye segment morphology	84464	SLX4	ORPHA:84
HP:0004328	Abnormal anterior eye segment morphology	55215	FANCI	ORPHA:84
HP:0004328	Abnormal anterior eye segment morphology	7466	WFS1	OMIM:222300
HP:0004328	Abnormal anterior eye segment morphology	55697	VAC14	ORPHA:3472
HP:0004328	Abnormal anterior eye segment morphology	26090	ABHD12	OMIM:612674
HP:0004328	Abnormal anterior eye segment morphology	60	ACTB	OMIM:607371
HP:0004328	Abnormal anterior eye segment morphology	60	ACTB	ORPHA:79107
HP:0004328	Abnormal anterior eye segment morphology	55636	CHD7	OMIM:214800
HP:0004328	Abnormal anterior eye segment morphology	57167	SALL4	ORPHA:959
HP:0004328	Abnormal anterior eye segment morphology	57167	SALL4	OMIM:607323
HP:0004328	Abnormal anterior eye segment morphology	23424	TDRD7	OMIM:613887
HP:0004328	Abnormal anterior eye segment morphology	25942	SIN3A	OMIM:613406
HP:0004328	Abnormal anterior eye segment morphology	3782	KCNN3	ORPHA:3473
HP:0004328	Abnormal anterior eye segment morphology	4853	NOTCH2	ORPHA:955
HP:0004328	Abnormal anterior eye segment morphology	374393	FAM111B	OMIM:615704
HP:0004328	Abnormal anterior eye segment morphology	1174	AP1S1	OMIM:609313
HP:0004328	Abnormal anterior eye segment morphology	26227	PHGDH	OMIM:256520
HP:0004328	Abnormal anterior eye segment morphology	7840	ALMS1	ORPHA:64
HP:0004328	Abnormal anterior eye segment morphology	343035	RD3	ORPHA:65
HP:0004328	Abnormal anterior eye segment morphology	145226	RDH12	ORPHA:65
HP:0004328	Abnormal anterior eye segment morphology	10383	TUBB4B	ORPHA:65
HP:0004328	Abnormal anterior eye segment morphology	85015	USP45	ORPHA:65
HP:0004328	Abnormal anterior eye segment morphology	392255	GDF6	ORPHA:65
HP:0004328	Abnormal anterior eye segment morphology	23746	AIPL1	ORPHA:65
HP:0004328	Abnormal anterior eye segment morphology	7287	TULP1	ORPHA:65
HP:0004328	Abnormal anterior eye segment morphology	3614	IMPDH1	ORPHA:65
HP:0004328	Abnormal anterior eye segment morphology	91754	NEK9	ORPHA:64754
HP:0004328	Abnormal anterior eye segment morphology	10908	PNPLA6	ORPHA:2377
HP:0004328	Abnormal anterior eye segment morphology	2073	ERCC5	OMIM:278780
HP:0004328	Abnormal anterior eye segment morphology	2073	ERCC5	ORPHA:910
HP:0004328	Abnormal anterior eye segment morphology	2073	ERCC5	ORPHA:1466
HP:0004328	Abnormal anterior eye segment morphology	55719	SLF2	OMIM:620184
HP:0004328	Abnormal anterior eye segment morphology	4036	LRP2	OMIM:222448
HP:0004328	Abnormal anterior eye segment morphology	402	ARL2	OMIM:619082
HP:0004328	Abnormal anterior eye segment morphology	2934	GSN	ORPHA:85448
HP:0004328	Abnormal anterior eye segment morphology	2934	GSN	OMIM:105120
HP:0004328	Abnormal anterior eye segment morphology	81887	LAS1L	ORPHA:3459
HP:0004328	Abnormal anterior eye segment morphology	55869	HDAC8	ORPHA:3459
HP:0004328	Abnormal anterior eye segment morphology	55869	HDAC8	ORPHA:199
HP:0004328	Abnormal anterior eye segment morphology	5336	PLCG2	OMIM:614878
HP:0004328	Abnormal anterior eye segment morphology	10165	SLC25A13	ORPHA:247598
HP:0004328	Abnormal anterior eye segment morphology	3178	HNRNPA1	ORPHA:52430
HP:0004328	Abnormal anterior eye segment morphology	7415	VCP	ORPHA:52430
HP:0004328	Abnormal anterior eye segment morphology	3181	HNRNPA2B1	ORPHA:52430
HP:0004328	Abnormal anterior eye segment morphology	55129	ANO10	ORPHA:284289
HP:0004328	Abnormal anterior eye segment morphology	170691	ADAMTS17	ORPHA:3449
HP:0004328	Abnormal anterior eye segment morphology	50628	GEMIN4	OMIM:617913
HP:0004328	Abnormal anterior eye segment morphology	81846	SBF2	ORPHA:99956
HP:0004328	Abnormal anterior eye segment morphology	3954	LETM1	OMIM:620089
HP:0004328	Abnormal anterior eye segment morphology	2702	GJA5	OMIM:612474
HP:0004328	Abnormal anterior eye segment morphology	1297	COL9A1	ORPHA:250984
HP:0004328	Abnormal anterior eye segment morphology	1297	COL9A1	OMIM:614134
HP:0004328	Abnormal anterior eye segment morphology	1299	COL9A3	ORPHA:250984
HP:0004328	Abnormal anterior eye segment morphology	7507	XPA	ORPHA:910
HP:0004328	Abnormal anterior eye segment morphology	7508	XPC	ORPHA:910
HP:0004328	Abnormal anterior eye segment morphology	1643	DDB2	ORPHA:910
HP:0004328	Abnormal anterior eye segment morphology	1288	COL4A6	ORPHA:1018
HP:0004328	Abnormal anterior eye segment morphology	1287	COL4A5	ORPHA:1018
HP:0004328	Abnormal anterior eye segment morphology	9158	FIBP	ORPHA:500095
HP:0004328	Abnormal anterior eye segment morphology	9420	CYP7B1	ORPHA:100986
HP:0004328	Abnormal anterior eye segment morphology	9420	CYP7B1	OMIM:270800
HP:0004328	Abnormal anterior eye segment morphology	4047	LSS	ORPHA:1366
HP:0004328	Abnormal anterior eye segment morphology	2584	GALK1	OMIM:230200
HP:0004328	Abnormal anterior eye segment morphology	2584	GALK1	ORPHA:79237
HP:0004328	Abnormal anterior eye segment morphology	55605	KIF21A	ORPHA:45358
HP:0004328	Abnormal anterior eye segment morphology	7846	TUBA1A	ORPHA:45358
HP:0004328	Abnormal anterior eye segment morphology	401	PHOX2A	ORPHA:45358
HP:0004328	Abnormal anterior eye segment morphology	10381	TUBB3	ORPHA:45358
HP:0004328	Abnormal anterior eye segment morphology	84570	COL25A1	ORPHA:45358
HP:0004328	Abnormal anterior eye segment morphology	10586	MAB21L2	OMIM:615877
HP:0004328	Abnormal anterior eye segment morphology	7473	WNT3	ORPHA:3301
HP:0004328	Abnormal anterior eye segment morphology	7473	WNT3	OMIM:273395
HP:0004328	Abnormal anterior eye segment morphology	340419	RSPO2	ORPHA:3301
HP:0004328	Abnormal anterior eye segment morphology	9496	TBX4	ORPHA:3301
HP:0004328	Abnormal anterior eye segment morphology	4010	LMX1B	OMIM:161200
HP:0004328	Abnormal anterior eye segment morphology	83552	MFRP	OMIM:611040
HP:0004328	Abnormal anterior eye segment morphology	84162	BLTP1	OMIM:617822
HP:0004328	Abnormal anterior eye segment morphology	3313	HSPA9	OMIM:616854
HP:0004328	Abnormal anterior eye segment morphology	22880	MORC2	ORPHA:466768
HP:0004328	Abnormal anterior eye segment morphology	5831	PYCR1	OMIM:614438
HP:0004328	Abnormal anterior eye segment morphology	387700	SLC16A12	OMIM:612018
HP:0004328	Abnormal anterior eye segment morphology	8671	SLC4A4	OMIM:604278
HP:0004328	Abnormal anterior eye segment morphology	7283	TUBG1	OMIM:615412
HP:0004328	Abnormal anterior eye segment morphology	2067	ERCC1	ORPHA:1466
HP:0004328	Abnormal anterior eye segment morphology	5925	RB1	ORPHA:1587
HP:0004328	Abnormal anterior eye segment morphology	2248	FGF3	ORPHA:2791
HP:0004328	Abnormal anterior eye segment morphology	1063	CENPF	OMIM:243605
HP:0004328	Abnormal anterior eye segment morphology	5745	PTH1R	ORPHA:50945
HP:0004328	Abnormal anterior eye segment morphology	338917	VSX2	OMIM:610092
HP:0004328	Abnormal anterior eye segment morphology	8985	PLOD3	OMIM:612394
HP:0004328	Abnormal anterior eye segment morphology	175	AGA	OMIM:208400
HP:0004328	Abnormal anterior eye segment morphology	80781	COL18A1	ORPHA:1571
HP:0004328	Abnormal anterior eye segment morphology	5062	PAK2	ORPHA:1571
HP:0004328	Abnormal anterior eye segment morphology	139285	AMER1	ORPHA:2780
HP:0004328	Abnormal anterior eye segment morphology	2313	FLI1	ORPHA:2308
HP:0004328	Abnormal anterior eye segment morphology	23476	BRD4	ORPHA:199
HP:0004328	Abnormal anterior eye segment morphology	9126	SMC3	ORPHA:199
HP:0004328	Abnormal anterior eye segment morphology	8243	SMC1A	ORPHA:199
HP:0004328	Abnormal anterior eye segment morphology	6878	TAF6	ORPHA:199
HP:0004328	Abnormal anterior eye segment morphology	25836	NIPBL	ORPHA:199
HP:0004328	Abnormal anterior eye segment morphology	5885	RAD21	ORPHA:199
HP:0004328	Abnormal anterior eye segment morphology	7399	USH2A	ORPHA:231178
HP:0004328	Abnormal anterior eye segment morphology	79955	PDZD7	ORPHA:231178
HP:0004328	Abnormal anterior eye segment morphology	4647	MYO7A	ORPHA:231178
HP:0004328	Abnormal anterior eye segment morphology	4647	MYO7A	ORPHA:231169
HP:0004328	Abnormal anterior eye segment morphology	25861	WHRN	ORPHA:231178
HP:0004328	Abnormal anterior eye segment morphology	84059	ADGRV1	ORPHA:231178
HP:0004328	Abnormal anterior eye segment morphology	6197	RPS6KA3	ORPHA:192
HP:0004328	Abnormal anterior eye segment morphology	9150	CTDP1	ORPHA:48431
HP:0004328	Abnormal anterior eye segment morphology	8092	ALX1	ORPHA:306542
HP:0004328	Abnormal anterior eye segment morphology	22931	RAB18	OMIM:614222
HP:0004328	Abnormal anterior eye segment morphology	22931	RAB18	ORPHA:2510
HP:0004328	Abnormal anterior eye segment morphology	4329	ALDH6A1	OMIM:614105
HP:0004328	Abnormal anterior eye segment morphology	3704	ITPA	OMIM:616647
HP:0004328	Abnormal anterior eye segment morphology	4796	TONSL	ORPHA:93357
HP:0004328	Abnormal anterior eye segment morphology	28957	MRPS28	OMIM:618958
HP:0004328	Abnormal anterior eye segment morphology	54676	GTPBP2	OMIM:617988
HP:0004328	Abnormal anterior eye segment morphology	100506658	OCLN	OMIM:251290
HP:0004328	Abnormal anterior eye segment morphology	617	BCS1L	OMIM:124000
HP:0004328	Abnormal anterior eye segment morphology	7401	CLRN1	ORPHA:231183
HP:0004328	Abnormal anterior eye segment morphology	22901	ARSG	ORPHA:231183
HP:0004328	Abnormal anterior eye segment morphology	4575	MT-TS2	ORPHA:231183
HP:0004328	Abnormal anterior eye segment morphology	3035	HARS1	ORPHA:231183
HP:0004328	Abnormal anterior eye segment morphology	84131	CEP78	ORPHA:231183
HP:0004328	Abnormal anterior eye segment morphology	10558	SPTLC1	OMIM:162400
HP:0004328	Abnormal anterior eye segment morphology	1376	CPT2	OMIM:608836
HP:0004328	Abnormal anterior eye segment morphology	7518	XRCC4	OMIM:616541
HP:0004328	Abnormal anterior eye segment morphology	59341	TRPV4	ORPHA:2635
HP:0004328	Abnormal anterior eye segment morphology	387	RHOA	OMIM:618727
HP:0004328	Abnormal anterior eye segment morphology	4668	NAGA	ORPHA:79281
HP:0004328	Abnormal anterior eye segment morphology	1302	COL11A2	ORPHA:1427
HP:0004328	Abnormal anterior eye segment morphology	128637	TBC1D20	ORPHA:2510
HP:0004328	Abnormal anterior eye segment morphology	9130	FAM50A	OMIM:300261
HP:0004328	Abnormal anterior eye segment morphology	64072	CDH23	ORPHA:231169
HP:0004328	Abnormal anterior eye segment morphology	10083	USH1C	ORPHA:231169
HP:0004328	Abnormal anterior eye segment morphology	124590	USH1G	ORPHA:231169
HP:0004328	Abnormal anterior eye segment morphology	83715	ESPN	ORPHA:231169
HP:0004328	Abnormal anterior eye segment morphology	10518	CIB2	ORPHA:231169
HP:0004328	Abnormal anterior eye segment morphology	65217	PCDH15	ORPHA:231169
HP:0004328	Abnormal anterior eye segment morphology	7543	ZFX	OMIM:301118
HP:0004328	Abnormal anterior eye segment morphology	80169	CTC1	ORPHA:1775
HP:0004328	Abnormal anterior eye segment morphology	26277	TINF2	ORPHA:1775
HP:0004328	Abnormal anterior eye segment morphology	55651	NHP2	ORPHA:1775
HP:0004328	Abnormal anterior eye segment morphology	79650	USB1	ORPHA:1775
HP:0004328	Abnormal anterior eye segment morphology	55135	WRAP53	ORPHA:1775
HP:0004328	Abnormal anterior eye segment morphology	51750	RTEL1	ORPHA:1775
HP:0004328	Abnormal anterior eye segment morphology	4869	NPM1	ORPHA:1775
HP:0004328	Abnormal anterior eye segment morphology	7012	TERC	ORPHA:1775
HP:0004328	Abnormal anterior eye segment morphology	5073	PARN	ORPHA:1775
HP:0004328	Abnormal anterior eye segment morphology	7015	TERT	ORPHA:1775
HP:0004328	Abnormal anterior eye segment morphology	7298	TYMS	ORPHA:1775
HP:0004328	Abnormal anterior eye segment morphology	51763	INPP5K	OMIM:617404
HP:0004328	Abnormal anterior eye segment morphology	85378	TUBGCP6	OMIM:251270
HP:0004328	Abnormal anterior eye segment morphology	523	ATP6V1A	OMIM:617403
HP:0004328	Abnormal anterior eye segment morphology	27183	VPS4A	OMIM:619273
HP:0004328	Abnormal anterior eye segment morphology	55654	TMEM127	OMIM:171300
HP:0004328	Abnormal anterior eye segment morphology	5979	RET	OMIM:171300
HP:0004328	Abnormal anterior eye segment morphology	7428	VHL	OMIM:171300
HP:0004328	Abnormal anterior eye segment morphology	79903	NAA60	OMIM:620786
HP:0004328	Abnormal anterior eye segment morphology	1417	CRYBB3	OMIM:609741
HP:0004328	Abnormal anterior eye segment morphology	10093	ARPC4	OMIM:620141
HP:0004328	Abnormal anterior eye segment morphology	1411	CRYBA1	OMIM:600881
HP:0004328	Abnormal anterior eye segment morphology	23094	SIPA1L3	OMIM:616851
HP:0004328	Abnormal anterior eye segment morphology	10073	SNUPN	OMIM:620793
HP:0004328	Abnormal anterior eye segment morphology	3417	IDH1	ORPHA:99646
HP:0004328	Abnormal anterior eye segment morphology	4574	MT-TS1	OMIM:540000
HP:0004328	Abnormal anterior eye segment morphology	4535	MT-ND1	OMIM:540000
HP:0004328	Abnormal anterior eye segment morphology	4567	MT-TL1	OMIM:540000
HP:0004328	Abnormal anterior eye segment morphology	4512	MT-CO1	OMIM:540000
HP:0004328	Abnormal anterior eye segment morphology	4513	MT-CO2	OMIM:540000
HP:0004328	Abnormal anterior eye segment morphology	4514	MT-CO3	OMIM:540000
HP:0004328	Abnormal anterior eye segment morphology	4511	MT-TC	OMIM:540000
HP:0004328	Abnormal anterior eye segment morphology	4572	MT-TQ	OMIM:540000
HP:0004328	Abnormal anterior eye segment morphology	4577	MT-TV	OMIM:540000
HP:0004328	Abnormal anterior eye segment morphology	4578	MT-TW	OMIM:540000
HP:0004328	Abnormal anterior eye segment morphology	4558	MT-TF	OMIM:540000
HP:0004328	Abnormal anterior eye segment morphology	4566	MT-TK	OMIM:540000
HP:0004328	Abnormal anterior eye segment morphology	4540	MT-ND5	OMIM:540000
HP:0004328	Abnormal anterior eye segment morphology	4541	MT-ND6	OMIM:540000
HP:0004328	Abnormal anterior eye segment morphology	57589	RIC1	OMIM:618761
HP:0004328	Abnormal anterior eye segment morphology	23511	NUP188	OMIM:618804
HP:0004328	Abnormal anterior eye segment morphology	20	ABCA2	OMIM:618808
HP:0004328	Abnormal anterior eye segment morphology	22872	SEC31A	OMIM:618651
HP:0004328	Abnormal anterior eye segment morphology	84668	HYCC1	OMIM:610532
HP:0004328	Abnormal anterior eye segment morphology	84668	HYCC1	ORPHA:85163
HP:0004328	Abnormal anterior eye segment morphology	1969	EPHA2	OMIM:116600
HP:0004328	Abnormal anterior eye segment morphology	5702	PSMC3	OMIM:619354
HP:0004328	Abnormal anterior eye segment morphology	389692	MAFA	OMIM:147630
HP:0004328	Abnormal anterior eye segment morphology	9894	TELO2	ORPHA:488642
HP:0004328	Abnormal anterior eye segment morphology	8419	BFSP2	OMIM:611597
HP:0004328	Abnormal anterior eye segment morphology	23137	SMC5	OMIM:620185
HP:0004328	Abnormal anterior eye segment morphology	79813	EHMT1	ORPHA:261652
HP:0004328	Abnormal anterior eye segment morphology	58508	KMT2C	ORPHA:261652
HP:0004328	Abnormal anterior eye segment morphology	953	ENTPD1	OMIM:615683
HP:0004328	Abnormal anterior eye segment morphology	2651	GCNT2	OMIM:116700
HP:0004328	Abnormal anterior eye segment morphology	3739	KCNA4	OMIM:618284
HP:0004328	Abnormal anterior eye segment morphology	9197	SLC33A1	OMIM:614482
HP:0004328	Abnormal anterior eye segment morphology	5286	PIK3C2A	OMIM:618440
HP:0004328	Abnormal anterior eye segment morphology	5286	PIK3C2A	ORPHA:557003
HP:0004328	Abnormal anterior eye segment morphology	63901	FAM111A	OMIM:127000
HP:0004328	Abnormal anterior eye segment morphology	63901	FAM111A	ORPHA:93325
HP:0004328	Abnormal anterior eye segment morphology	833	CARS1	ORPHA:33364
HP:0004328	Abnormal anterior eye segment morphology	7737	RNF113A	ORPHA:33364
HP:0004328	Abnormal anterior eye segment morphology	136647	MPLKIP	ORPHA:33364
HP:0004328	Abnormal anterior eye segment morphology	6897	TARS1	ORPHA:33364
HP:0004328	Abnormal anterior eye segment morphology	16	AARS1	ORPHA:33364
HP:0004328	Abnormal anterior eye segment morphology	2961	GTF2E2	ORPHA:33364
HP:0004328	Abnormal anterior eye segment morphology	6138	RPL15	ORPHA:124
HP:0004328	Abnormal anterior eye segment morphology	6224	RPS20	ORPHA:124
HP:0004328	Abnormal anterior eye segment morphology	6165	RPL35A	ORPHA:124
HP:0004328	Abnormal anterior eye segment morphology	6132	RPL8	ORPHA:124
HP:0004328	Abnormal anterior eye segment morphology	6223	RPS19	ORPHA:124
HP:0004328	Abnormal anterior eye segment morphology	6232	RPS27	ORPHA:124
HP:0004328	Abnormal anterior eye segment morphology	55027	HEATR3	ORPHA:124
HP:0004328	Abnormal anterior eye segment morphology	6160	RPL31	ORPHA:124
HP:0004328	Abnormal anterior eye segment morphology	6201	RPS7	ORPHA:124
HP:0004328	Abnormal anterior eye segment morphology	6155	RPL27	ORPHA:124
HP:0004328	Abnormal anterior eye segment morphology	6234	RPS28	ORPHA:124
HP:0004328	Abnormal anterior eye segment morphology	6135	RPL11	ORPHA:124
HP:0004328	Abnormal anterior eye segment morphology	6229	RPS24	ORPHA:124
HP:0004328	Abnormal anterior eye segment morphology	6125	RPL5	ORPHA:124
HP:0004328	Abnormal anterior eye segment morphology	6204	RPS10	ORPHA:124
HP:0004328	Abnormal anterior eye segment morphology	2623	GATA1	ORPHA:124
HP:0004328	Abnormal anterior eye segment morphology	6133	RPL9	ORPHA:124
HP:0004328	Abnormal anterior eye segment morphology	6231	RPS26	ORPHA:124
HP:0004328	Abnormal anterior eye segment morphology	11224	RPL35	ORPHA:124
HP:0004328	Abnormal anterior eye segment morphology	6218	RPS17	ORPHA:124
HP:0004328	Abnormal anterior eye segment morphology	6154	RPL26	ORPHA:124
HP:0004328	Abnormal anterior eye segment morphology	6210	RPS15A	ORPHA:124
HP:0004328	Abnormal anterior eye segment morphology	90121	TSR2	ORPHA:124
HP:0004328	Abnormal anterior eye segment morphology	6141	RPL18	ORPHA:124
HP:0004328	Abnormal anterior eye segment morphology	6235	RPS29	ORPHA:124
HP:0004328	Abnormal anterior eye segment morphology	51816	ADA2	ORPHA:124
HP:0004328	Abnormal anterior eye segment morphology	1419	CRYGB	OMIM:615188
HP:0004328	Abnormal anterior eye segment morphology	7319	UBE2A	ORPHA:163956
HP:0004328	Abnormal anterior eye segment morphology	6307	MSMO1	OMIM:616834
HP:0004328	Abnormal anterior eye segment morphology	7439	BEST1	OMIM:193220
HP:0004328	Abnormal anterior eye segment morphology	2110	ETFDH	OMIM:231680
HP:0004328	Abnormal anterior eye segment morphology	2108	ETFA	OMIM:231680
HP:0004328	Abnormal anterior eye segment morphology	2109	ETFB	OMIM:231680
HP:0004328	Abnormal anterior eye segment morphology	84181	CHD6	ORPHA:2108
HP:0004328	Abnormal anterior eye segment morphology	64682	ANAPC1	ORPHA:221008
HP:0004328	Abnormal anterior eye segment morphology	51099	ABHD5	ORPHA:98907
HP:0004328	Abnormal anterior eye segment morphology	51099	ABHD5	OMIM:275630
HP:0004328	Abnormal anterior eye segment morphology	10594	PRPF8	OMIM:600059
HP:0004328	Abnormal anterior eye segment morphology	29925	GMPPB	ORPHA:370959
HP:0004328	Abnormal anterior eye segment morphology	79147	FKRP	ORPHA:370959
HP:0004328	Abnormal anterior eye segment morphology	29954	POMT2	ORPHA:370959
HP:0004328	Abnormal anterior eye segment morphology	84197	POMK	ORPHA:370959
HP:0004328	Abnormal anterior eye segment morphology	55624	POMGNT1	ORPHA:370959
HP:0004328	Abnormal anterior eye segment morphology	10585	POMT1	ORPHA:370959
HP:0004328	Abnormal anterior eye segment morphology	4929	NR4A2	ORPHA:1617
HP:0004328	Abnormal anterior eye segment morphology	10716	TBR1	ORPHA:1617
HP:0004328	Abnormal anterior eye segment morphology	2202	EFEMP1	ORPHA:98977
HP:0004328	Abnormal anterior eye segment morphology	1545	CYP1B1	ORPHA:98977
HP:0004328	Abnormal anterior eye segment morphology	4653	MYOC	ORPHA:98977
HP:0004328	Abnormal anterior eye segment morphology	4629	MYH11	ORPHA:91387
HP:0004328	Abnormal anterior eye segment morphology	7046	TGFBR1	ORPHA:91387
HP:0004328	Abnormal anterior eye segment morphology	7048	TGFBR2	ORPHA:91387
HP:0004328	Abnormal anterior eye segment morphology	4015	LOX	ORPHA:91387
HP:0004328	Abnormal anterior eye segment morphology	4087	SMAD2	ORPHA:91387
HP:0004328	Abnormal anterior eye segment morphology	7043	TGFB3	ORPHA:91387
HP:0004328	Abnormal anterior eye segment morphology	4088	SMAD3	ORPHA:91387
HP:0004328	Abnormal anterior eye segment morphology	7042	TGFB2	ORPHA:91387
HP:0004328	Abnormal anterior eye segment morphology	4089	SMAD4	ORPHA:91387
HP:0004328	Abnormal anterior eye segment morphology	2200	FBN1	ORPHA:91387
HP:0004328	Abnormal anterior eye segment morphology	59	ACTA2	ORPHA:91387
HP:0004328	Abnormal anterior eye segment morphology	5592	PRKG1	ORPHA:91387
HP:0004328	Abnormal anterior eye segment morphology	2301	FOXE3	ORPHA:91387
HP:0004328	Abnormal anterior eye segment morphology	4144	MAT2A	ORPHA:91387
HP:0004328	Abnormal anterior eye segment morphology	23493	HEY2	ORPHA:91387
HP:0004328	Abnormal anterior eye segment morphology	8076	MFAP5	ORPHA:91387
HP:0004328	Abnormal anterior eye segment morphology	4638	MYLK	ORPHA:91387
HP:0004328	Abnormal anterior eye segment morphology	79875	THSD4	ORPHA:91387
HP:0004328	Abnormal anterior eye segment morphology	2006	ELN	ORPHA:91387
HP:0004328	Abnormal anterior eye segment morphology	2697	GJA1	ORPHA:2710
HP:0004328	Abnormal anterior eye segment morphology	197257	LDHD	OMIM:245450
HP:0004328	Abnormal anterior eye segment morphology	1743	DLST	ORPHA:29072
HP:0004328	Abnormal anterior eye segment morphology	4191	MDH2	ORPHA:29072
HP:0004328	Abnormal anterior eye segment morphology	6389	SDHA	ORPHA:29072
HP:0004328	Abnormal anterior eye segment morphology	23095	KIF1B	ORPHA:29072
HP:0004328	Abnormal anterior eye segment morphology	8402	SLC25A11	ORPHA:29072
HP:0004328	Abnormal anterior eye segment morphology	54949	SDHAF2	ORPHA:29072
HP:0004328	Abnormal anterior eye segment morphology	4763	NF1	ORPHA:29072
HP:0004328	Abnormal anterior eye segment morphology	1750	DLX6	ORPHA:2440
HP:0004328	Abnormal anterior eye segment morphology	7979	SEM1	ORPHA:2440
HP:0004328	Abnormal anterior eye segment morphology	8945	BTRC	ORPHA:2440
HP:0004328	Abnormal anterior eye segment morphology	58513	EPS15L1	ORPHA:2440
HP:0004328	Abnormal anterior eye segment morphology	6468	FBXW4	ORPHA:2440
HP:0004328	Abnormal anterior eye segment morphology	7480	WNT10B	ORPHA:2440
HP:0004328	Abnormal anterior eye segment morphology	1749	DLX5	ORPHA:2440
HP:0004328	Abnormal anterior eye segment morphology	5978	REST	ORPHA:654
HP:0004328	Abnormal anterior eye segment morphology	129563	DIS3L2	ORPHA:654
HP:0004328	Abnormal anterior eye segment morphology	10155	TRIM28	ORPHA:654
HP:0004328	Abnormal anterior eye segment morphology	11281	POU6F2	ORPHA:654
HP:0004328	Abnormal anterior eye segment morphology	2719	GPC3	ORPHA:654
HP:0004328	Abnormal anterior eye segment morphology	283120	H19	ORPHA:654
HP:0004328	Abnormal anterior eye segment morphology	3708	ITPR1	OMIM:117360
HP:0004328	Abnormal anterior eye segment morphology	151188	ARL6IP6	ORPHA:1556
HP:0004328	Abnormal anterior eye segment morphology	2530	FUT8	OMIM:618005
HP:0004328	Abnormal anterior eye segment morphology	92949	ADAMTSL1	ORPHA:521445
HP:0004328	Abnormal anterior eye segment morphology	7291	TWIST1	OMIM:101400
HP:0004328	Abnormal anterior eye segment morphology	3480	IGF1R	OMIM:270450
HP:0004328	Abnormal anterior eye segment morphology	5422	POLA1	OMIM:301220
HP:0004328	Abnormal anterior eye segment morphology	7390	UROS	OMIM:263700
HP:0004328	Abnormal anterior eye segment morphology	85446	ZFHX2	OMIM:147430
HP:0004328	Abnormal anterior eye segment morphology	59335	PRDM12	OMIM:616488
HP:0004328	Abnormal anterior eye segment morphology	4358	MPV17	OMIM:256810
HP:0004328	Abnormal anterior eye segment morphology	4914	NTRK1	ORPHA:642
HP:0004328	Abnormal anterior eye segment morphology	4914	NTRK1	OMIM:256800
HP:0004328	Abnormal anterior eye segment morphology	667	DST	OMIM:614653
HP:0004328	Abnormal anterior eye segment morphology	7025	NR2F1	ORPHA:401777
HP:0004328	Abnormal anterior eye segment morphology	92840	REEP6	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	6094	ROM1	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	24	ABCA4	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	130557	ZNF513	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	92211	CDHR1	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	23568	ARL2BP	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	6101	RP1	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	3419	IDH3A	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	4751	NEK2	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	346007	EYS	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	8100	IFT88	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	23020	SNRNP200	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	762	CA4	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	138050	HGSNAT	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	196	AHR	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	6103	RPGR	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	5148	PDE6G	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	26121	PRPF31	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	4117	MAK	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	25794	FSCN2	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	375298	CERKL	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	3420	IDH3B	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	57670	KIAA1549	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	24148	PRPF6	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	10461	MERTK	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	57709	SLC7A14	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	768206	PRCD	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	23370	ARHGEF18	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	5949	RBP3	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	84140	FAM161A	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	5145	PDE6A	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	10210	TOPORS	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	8842	PROM1	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	9128	PRPF4	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	2979	GUCA1B	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	1259	CNGA1	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	1258	CNGB1	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	60509	AGBL5	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	388939	PCARE	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	5995	RGR	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	9129	PRPF3	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	55975	KLHL7	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	94137	RP1L1	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	55857	KIZ	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	64218	SEMA4A	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	4901	NRL	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	6295	SAG	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	79947	DHDDS	ORPHA:791
HP:0004328	Abnormal anterior eye segment morphology	2737	GLI3	OMIM:175700
HP:0004328	Abnormal anterior eye segment morphology	162	AP1B1	OMIM:242150
HP:0004328	Abnormal anterior eye segment morphology	10681	GNB5	ORPHA:542306
HP:0004328	Abnormal anterior eye segment morphology	2296	FOXC1	ORPHA:782
HP:0004328	Abnormal anterior eye segment morphology	113189	CHST14	OMIM:601776
HP:0004328	Abnormal anterior eye segment morphology	5295	PIK3R1	ORPHA:3163
HP:0004328	Abnormal anterior eye segment morphology	4693	NDP	ORPHA:190
HP:0004328	Abnormal anterior eye segment morphology	63916	ELMO2	ORPHA:3019
HP:0004328	Abnormal anterior eye segment morphology	4286	MITF	ORPHA:42665
HP:0004328	Abnormal anterior eye segment morphology	5648	MASP1	OMIM:257920
HP:0004328	Abnormal anterior eye segment morphology	5648	MASP1	ORPHA:293843
HP:0004328	Abnormal anterior eye segment morphology	182	JAG1	OMIM:118450
HP:0004328	Abnormal anterior eye segment morphology	10847	SRCAP	ORPHA:2044
HP:0004328	Abnormal anterior eye segment morphology	10584	COLEC10	ORPHA:293843
HP:0004328	Abnormal anterior eye segment morphology	78989	COLEC11	ORPHA:293843
HP:0004328	Abnormal anterior eye segment morphology	84992	PIGY	ORPHA:247262
HP:0004328	Abnormal anterior eye segment morphology	84720	PIGO	ORPHA:247262
HP:0004328	Abnormal anterior eye segment morphology	93210	PGAP3	ORPHA:247262
HP:0004328	Abnormal anterior eye segment morphology	284098	PIGW	ORPHA:247262
HP:0004328	Abnormal anterior eye segment morphology	27315	PGAP2	ORPHA:247262
HP:0004328	Abnormal anterior eye segment morphology	55650	PIGV	ORPHA:247262
HP:0004328	Abnormal anterior eye segment morphology	84168	ANTXR1	OMIM:230740
HP:0004328	Abnormal anterior eye segment morphology	3476	IGBP1	OMIM:300472
HP:0004328	Abnormal anterior eye segment morphology	3476	IGBP1	ORPHA:52055
HP:0004328	Abnormal anterior eye segment morphology	22827	PUF60	ORPHA:508498
HP:0004328	Abnormal anterior eye segment morphology	23394	ADNP	ORPHA:404448
HP:0004328	Abnormal anterior eye segment morphology	406987	MIR204	OMIM:616722
HP:0004328	Abnormal anterior eye segment morphology	4919	ROR1	OMIM:617654
HP:0004328	Abnormal anterior eye segment morphology	23126	POGZ	ORPHA:468678
HP:0004328	Abnormal anterior eye segment morphology	23126	POGZ	OMIM:616364
HP:0004328	Abnormal anterior eye segment morphology	116931	MED12L	OMIM:618872
HP:0004328	Abnormal anterior eye segment morphology	64412	GZF1	OMIM:617662
HP:0004328	Abnormal anterior eye segment morphology	54806	AHI1	ORPHA:220493
HP:0004328	Abnormal anterior eye segment morphology	54806	AHI1	ORPHA:475
HP:0004328	Abnormal anterior eye segment morphology	153241	CEP120	ORPHA:220493
HP:0004328	Abnormal anterior eye segment morphology	153241	CEP120	ORPHA:475
HP:0004328	Abnormal anterior eye segment morphology	95681	CEP41	ORPHA:220493
HP:0004328	Abnormal anterior eye segment morphology	95681	CEP41	ORPHA:475
HP:0004328	Abnormal anterior eye segment morphology	3149	HMGB3	OMIM:300915
HP:0004328	Abnormal anterior eye segment morphology	26128	KIFBP	ORPHA:66629
HP:0004328	Abnormal anterior eye segment morphology	9723	SEMA3E	ORPHA:138
HP:0004328	Abnormal anterior eye segment morphology	28514	DLL1	ORPHA:280200
HP:0004328	Abnormal anterior eye segment morphology	2253	FGF8	ORPHA:280200
HP:0004328	Abnormal anterior eye segment morphology	6496	SIX3	ORPHA:280200
HP:0004328	Abnormal anterior eye segment morphology	6496	SIX3	OMIM:157170
HP:0004328	Abnormal anterior eye segment morphology	7050	TGIF1	ORPHA:280200
HP:0004328	Abnormal anterior eye segment morphology	4838	NODAL	ORPHA:280200
HP:0004328	Abnormal anterior eye segment morphology	6469	SHH	ORPHA:280200
HP:0004328	Abnormal anterior eye segment morphology	6469	SHH	OMIM:611638
HP:0004328	Abnormal anterior eye segment morphology	7546	ZIC2	ORPHA:280200
HP:0004328	Abnormal anterior eye segment morphology	2619	GAS1	ORPHA:280200
HP:0004328	Abnormal anterior eye segment morphology	84976	DISP1	ORPHA:280200
HP:0004328	Abnormal anterior eye segment morphology	2736	GLI2	ORPHA:280200
HP:0004328	Abnormal anterior eye segment morphology	8928	FOXH1	ORPHA:280200
HP:0004328	Abnormal anterior eye segment morphology	6997	CRIPTO	ORPHA:280200
HP:0004328	Abnormal anterior eye segment morphology	50937	CDON	ORPHA:280200
HP:0004328	Abnormal anterior eye segment morphology	2077	ERF	ORPHA:207
HP:0004328	Abnormal anterior eye segment morphology	51524	TMEM138	ORPHA:2318
HP:0004328	Abnormal anterior eye segment morphology	23090	ZNF423	ORPHA:2318
HP:0004328	Abnormal anterior eye segment morphology	10815	CPLX1	ORPHA:280
HP:0004328	Abnormal anterior eye segment morphology	10815	CPLX1	OMIM:194190
HP:0004328	Abnormal anterior eye segment morphology	54872	PIGG	ORPHA:280
HP:0004328	Abnormal anterior eye segment morphology	7469	NELFA	ORPHA:280
HP:0004328	Abnormal anterior eye segment morphology	1487	CTBP1	ORPHA:280
HP:0004328	Abnormal anterior eye segment morphology	1487	CTBP1	OMIM:194190
HP:0004328	Abnormal anterior eye segment morphology	7468	NSD2	ORPHA:280
HP:0004328	Abnormal anterior eye segment morphology	7468	NSD2	OMIM:194190
HP:0004328	Abnormal anterior eye segment morphology	4854	NOTCH3	ORPHA:2789
HP:0004328	Abnormal anterior eye segment morphology	5950	RBP4	OMIM:615147
HP:0004328	Abnormal anterior eye segment morphology	5950	RBP4	OMIM:616428
HP:0004328	Abnormal anterior eye segment morphology	7855	FZD5	OMIM:620731
HP:0004328	Abnormal anterior eye segment morphology	53834	FGFRL1	OMIM:194190
HP:0004328	Abnormal anterior eye segment morphology	1123	CHN1	ORPHA:233
HP:0004328	Abnormal anterior eye segment morphology	9851	KIAA0753	ORPHA:475
HP:0004328	Abnormal anterior eye segment morphology	5147	PDE6D	ORPHA:475
HP:0004328	Abnormal anterior eye segment morphology	8481	OFD1	ORPHA:475
HP:0004328	Abnormal anterior eye segment morphology	65250	CPLANE1	ORPHA:475
HP:0004328	Abnormal anterior eye segment morphology	200894	ARL13B	ORPHA:475
HP:0004328	Abnormal anterior eye segment morphology	9731	CEP104	ORPHA:475
HP:0004328	Abnormal anterior eye segment morphology	219844	HYLS1	ORPHA:475
HP:0004328	Abnormal anterior eye segment morphology	23247	KATNIP	ORPHA:475
HP:0004328	Abnormal anterior eye segment morphology	219854	TMEM218	ORPHA:475
HP:0004328	Abnormal anterior eye segment morphology	9786	KIAA0586	ORPHA:475
HP:0004328	Abnormal anterior eye segment morphology	10464	PIBF1	ORPHA:475
HP:0004328	Abnormal anterior eye segment morphology	80210	ARMC9	ORPHA:475
HP:0004328	Abnormal anterior eye segment morphology	23116	TOGARAM1	ORPHA:475
HP:0004328	Abnormal anterior eye segment morphology	25776	CBY1	ORPHA:475
HP:0004328	Abnormal anterior eye segment morphology	403	ARL3	ORPHA:475
HP:0004328	Abnormal anterior eye segment morphology	157680	VPS13B	ORPHA:193
HP:0004328	Abnormal anterior eye segment morphology	6608	SMO	OMIM:601707
HP:0004328	Abnormal anterior eye segment morphology	6608	SMO	ORPHA:1553
HP:0004328	Abnormal anterior eye segment morphology	286	ANK1	ORPHA:251066
HP:0004328	Abnormal anterior eye segment morphology	8085	KMT2D	OMIM:620186
HP:0004328	Abnormal anterior eye segment morphology	9573	GDF3	OMIM:613702
HP:0004328	Abnormal anterior eye segment morphology	9338	TCEAL1	OMIM:301094
HP:0004328	Abnormal anterior eye segment morphology	8777	MPDZ	OMIM:615219
HP:0004328	Abnormal anterior eye segment morphology	71	ACTG1	ORPHA:2995
HP:0004328	Abnormal anterior eye segment morphology	50945	TBX22	ORPHA:921
HP:0004328	Abnormal anterior eye segment morphology	9897	WASHC5	ORPHA:7
HP:0004328	Abnormal anterior eye segment morphology	28952	CCDC22	ORPHA:7
HP:0004328	Abnormal anterior eye segment morphology	57020	VPS35L	ORPHA:7
HP:0004328	Abnormal anterior eye segment morphology	56896	DPYSL5	ORPHA:7
HP:0004328	Abnormal anterior eye segment morphology	10058	ABCB6	OMIM:614497
HP:0004328	Abnormal anterior eye segment morphology	90952	ESAM	OMIM:620371
HP:0004328	Abnormal anterior eye segment morphology	8943	AP3D1	ORPHA:54
HP:0004328	Abnormal anterior eye segment morphology	4935	GPR143	ORPHA:54
HP:0004328	Abnormal anterior eye segment morphology	1281	COL3A1	ORPHA:286
HP:0004328	Abnormal anterior eye segment morphology	8929	PHOX2B	ORPHA:2151
HP:0004328	Abnormal anterior eye segment morphology	5376	PMP22	ORPHA:90658
HP:0004328	Abnormal anterior eye segment morphology	6786	STIM1	OMIM:160565
HP:0004328	Abnormal anterior eye segment morphology	4359	MPZ	ORPHA:101082
HP:0004328	Abnormal anterior eye segment morphology	9653	HS2ST1	OMIM:619194
HP:0004328	Abnormal anterior eye segment morphology	54487	DGCR8	OMIM:192430
HP:0004328	Abnormal anterior eye segment morphology	8214	DGCR6	OMIM:192430
HP:0004328	Abnormal anterior eye segment morphology	8220	ESS2	OMIM:192430
HP:0004328	Abnormal anterior eye segment morphology	9993	DGCR2	OMIM:192430
HP:0004328	Abnormal anterior eye segment morphology	5927	KDM5A	OMIM:620820
HP:0004328	Abnormal anterior eye segment morphology	51132	RLIM	OMIM:300978
HP:0004328	Abnormal anterior eye segment morphology	5077	PAX3	OMIM:193500
HP:0004328	Abnormal anterior eye segment morphology	5077	PAX3	OMIM:148820
HP:0004328	Abnormal anterior eye segment morphology	4157	MC1R	OMIM:203200
HP:0004328	Abnormal anterior eye segment morphology	4157	MC1R	ORPHA:79432
HP:0004328	Abnormal anterior eye segment morphology	4948	OCA2	OMIM:203200
HP:0004328	Abnormal anterior eye segment morphology	4948	OCA2	ORPHA:79432
HP:0004328	Abnormal anterior eye segment morphology	6663	SOX10	ORPHA:163746
HP:0004328	Abnormal anterior eye segment morphology	6663	SOX10	OMIM:613266
HP:0004328	Abnormal anterior eye segment morphology	6663	SOX10	OMIM:611584
HP:0004328	Abnormal anterior eye segment morphology	8924	HERC2	OMIM:615516
HP:0004328	Abnormal anterior eye segment morphology	22800	RRAS2	ORPHA:648
HP:0004328	Abnormal anterior eye segment morphology	867	CBL	ORPHA:648
HP:0004328	Abnormal anterior eye segment morphology	6016	RIT1	ORPHA:648
HP:0004328	Abnormal anterior eye segment morphology	6237	RRAS	ORPHA:648
HP:0004328	Abnormal anterior eye segment morphology	5894	RAF1	ORPHA:648
HP:0004328	Abnormal anterior eye segment morphology	22808	MRAS	ORPHA:648
HP:0004328	Abnormal anterior eye segment morphology	200734	SPRED2	ORPHA:648
HP:0004328	Abnormal anterior eye segment morphology	6654	SOS1	ORPHA:648
HP:0004328	Abnormal anterior eye segment morphology	6654	SOS1	OMIM:610733
HP:0004328	Abnormal anterior eye segment morphology	5781	PTPN11	ORPHA:648
HP:0004328	Abnormal anterior eye segment morphology	5922	RASA2	ORPHA:648
HP:0004328	Abnormal anterior eye segment morphology	51151	SLC45A2	OMIM:606574
HP:0004328	Abnormal anterior eye segment morphology	7337	UBE3A	OMIM:105830
HP:0004328	Abnormal anterior eye segment morphology	6638	SNRPN	OMIM:105830
HP:0004328	Abnormal anterior eye segment morphology	5594	MAPK1	OMIM:619087
HP:0004328	Abnormal anterior eye segment morphology	1908	EDN3	OMIM:613265
HP:0004328	Abnormal anterior eye segment morphology	4254	KITLG	OMIM:619947
HP:0004328	Abnormal anterior eye segment morphology	5144	PDE4D	OMIM:614613
HP:0004328	Abnormal anterior eye segment morphology	1910	EDNRB	OMIM:277580
HP:0004328	Abnormal anterior eye segment morphology	5573	PRKAR1A	OMIM:101800
HP:0004328	Abnormal anterior eye segment morphology	51085	MLXIPL	OMIM:194050
HP:0004328	Abnormal anterior eye segment morphology	7306	TYRP1	ORPHA:79433
HP:0004328	Abnormal anterior eye segment morphology	29957	SLC25A24	ORPHA:2095
HP:0004328	Abnormal anterior eye segment morphology	30062	RAX	OMIM:611038
HP:0004328	Abnormal anterior eye segment morphology	91179	SCARF2	OMIM:600920
HP:0004328	Abnormal anterior eye segment morphology	54892	NCAPG2	OMIM:618460
HP:0004328	Abnormal anterior eye segment morphology	1000	CDH2	OMIM:618929
HP:0004328	Abnormal anterior eye segment morphology	22884	WDR37	OMIM:618652
HP:0004328	Abnormal anterior eye segment morphology	7403	KDM6A	ORPHA:2322
HP:0004328	Abnormal anterior eye segment morphology	4337	MOCS1	OMIM:252150
HP:0004328	Abnormal anterior eye segment morphology	6890	TAP1	OMIM:604571
HP:0004328	Abnormal anterior eye segment morphology	2201	FBN2	OMIM:121050
HP:0004328	Abnormal anterior eye segment morphology	2201	FBN2	ORPHA:115
HP:0004328	Abnormal anterior eye segment morphology	113246	C12orf57	OMIM:218340
HP:0004328	Abnormal anterior eye segment morphology	10157	AASS	OMIM:238700
HP:0004328	Abnormal anterior eye segment morphology	6821	SUOX	OMIM:272300
HP:0004328	Abnormal anterior eye segment morphology	4338	MOCS2	OMIM:252160
HP:0004328	Abnormal anterior eye segment morphology	55315	SLC29A3	OMIM:602782
HP:0004328	Abnormal anterior eye segment morphology	55315	SLC29A3	ORPHA:168569
HP:0004328	Abnormal anterior eye segment morphology	255738	PCSK9	OMIM:603776
HP:0004328	Abnormal anterior eye segment morphology	338	APOB	OMIM:144010
HP:0004328	Abnormal anterior eye segment morphology	336	APOA2	OMIM:143890
HP:0004328	Abnormal anterior eye segment morphology	2053	EPHX2	OMIM:143890
HP:0004328	Abnormal anterior eye segment morphology	10842	PPP1R17	OMIM:143890
HP:0004328	Abnormal anterior eye segment morphology	3949	LDLR	OMIM:143890
HP:0004328	Abnormal anterior eye segment morphology	2690	GHR	OMIM:143890
HP:0004328	Abnormal anterior eye segment morphology	3990	LIPC	OMIM:614025
HP:0004328	Abnormal anterior eye segment morphology	348	APOE	ORPHA:412
HP:0004328	Abnormal anterior eye segment morphology	64241	ABCG8	OMIM:210250
HP:0004328	Abnormal anterior eye segment morphology	9469	CHST3	OMIM:245600
HP:0004328	Abnormal anterior eye segment morphology	26229	B3GAT3	OMIM:245600
HP:0004328	Abnormal anterior eye segment morphology	285590	SH3PXD2B	OMIM:249420
HP:0004328	Abnormal anterior eye segment morphology	6736	SRY	ORPHA:1772
HP:0004328	Abnormal anterior eye segment morphology	169792	GLIS3	OMIM:610199
HP:0004328	Abnormal anterior eye segment morphology	10535	RNASEH2A	ORPHA:51
HP:0004328	Abnormal anterior eye segment morphology	84153	RNASEH2C	ORPHA:51
HP:0004328	Abnormal anterior eye segment morphology	25939	SAMHD1	ORPHA:51
HP:0004328	Abnormal anterior eye segment morphology	79621	RNASEH2B	ORPHA:51
HP:0004328	Abnormal anterior eye segment morphology	103	ADAR	ORPHA:51
HP:0004328	Abnormal anterior eye segment morphology	11277	TREX1	ORPHA:51
HP:0004328	Abnormal anterior eye segment morphology	100147744	RNU7-1	ORPHA:51
HP:0004328	Abnormal anterior eye segment morphology	134353	LSM11	ORPHA:51
HP:0004328	Abnormal anterior eye segment morphology	64135	IFIH1	ORPHA:51
HP:0004328	Abnormal anterior eye segment morphology	124583	CANT1	OMIM:251450
HP:0004328	Abnormal anterior eye segment morphology	6091	ROBO1	OMIM:620305
HP:0004328	Abnormal anterior eye segment morphology	23078	VWA8	OMIM:620422
HP:0004328	Abnormal anterior eye segment morphology	27235	COQ2	OMIM:146500
HP:0004328	Abnormal anterior eye segment morphology	3141	HLCS	ORPHA:79242
HP:0004328	Abnormal anterior eye segment morphology	6335	SCN9A	OMIM:133020
HP:0004328	Abnormal anterior eye segment morphology	3930	LBR	ORPHA:779
HP:0004328	Abnormal anterior eye segment morphology	54941	RNF125	OMIM:616260
HP:0004328	Abnormal anterior eye segment morphology	5965	RECQL	OMIM:620370
HP:0004328	Abnormal anterior eye segment morphology	4069	LYZ	OMIM:620658
HP:0004328	Abnormal anterior eye segment morphology	6591	SNAI2	ORPHA:895
HP:0004328	Abnormal anterior eye segment morphology	6591	SNAI2	ORPHA:2884
HP:0004328	Abnormal anterior eye segment morphology	80153	EDC3	OMIM:616460
HP:0004328	Abnormal anterior eye segment morphology	3815	KIT	OMIM:172800
HP:0004328	Abnormal anterior eye segment morphology	3815	KIT	ORPHA:2884
HP:0004328	Abnormal anterior eye segment morphology	3257	HPS1	OMIM:203300
HP:0004328	Abnormal anterior eye segment morphology	8546	AP3B1	OMIM:608233
HP:0004328	Abnormal anterior eye segment morphology	89781	HPS4	OMIM:614073
HP:0004328	Abnormal anterior eye segment morphology	26258	BLOC1S6	OMIM:614171
HP:0004328	Abnormal anterior eye segment morphology	84062	DTNBP1	OMIM:614076
HP:0004328	Abnormal anterior eye segment morphology	9445	ITM2B	OMIM:117300
HP:0004328	Abnormal anterior eye segment morphology	7431	VIM	OMIM:116300
HP:0004328	Abnormal anterior eye segment morphology	4204	MECP2	OMIM:300055
HP:0004328	Abnormal anterior eye segment morphology	7053	TGM3	OMIM:617251
HP:0004328	Abnormal anterior eye segment morphology	221496	LEMD2	OMIM:212500
HP:0004328	Abnormal anterior eye segment morphology	81031	SLC2A10	ORPHA:3342
HP:0004328	Abnormal anterior eye segment morphology	63895	PIEZO2	OMIM:108145
HP:0004328	Abnormal anterior eye segment morphology	83959	SLC4A11	OMIM:217400
HP:0004328	Abnormal anterior eye segment morphology	83959	SLC4A11	OMIM:217700
HP:0004328	Abnormal anterior eye segment morphology	83959	SLC4A11	ORPHA:1490
HP:0004328	Abnormal anterior eye segment morphology	83959	SLC4A11	OMIM:613268
HP:0004328	Abnormal anterior eye segment morphology	4166	CHST6	OMIM:217800
HP:0004328	Abnormal anterior eye segment morphology	4081	MAB21L1	ORPHA:495875
HP:0004328	Abnormal anterior eye segment morphology	6935	ZEB1	OMIM:613270
HP:0004328	Abnormal anterior eye segment morphology	6935	ZEB1	OMIM:609141
HP:0004328	Abnormal anterior eye segment morphology	2717	GLA	OMIM:301500
HP:0004328	Abnormal anterior eye segment morphology	2717	GLA	ORPHA:324
HP:0004328	Abnormal anterior eye segment morphology	4070	TACSTD2	OMIM:204870
HP:0004328	Abnormal anterior eye segment morphology	1296	COL8A2	OMIM:609140
HP:0004328	Abnormal anterior eye segment morphology	1296	COL8A2	OMIM:136800
HP:0004328	Abnormal anterior eye segment morphology	1634	DCN	OMIM:610048
HP:0004328	Abnormal anterior eye segment morphology	29914	UBIAD1	OMIM:121800
HP:0004328	Abnormal anterior eye segment morphology	1308	COL17A1	ORPHA:293381
HP:0004328	Abnormal anterior eye segment morphology	291	SLC25A4	ORPHA:1369
HP:0004328	Abnormal anterior eye segment morphology	26007	TKFC	ORPHA:1369
HP:0004328	Abnormal anterior eye segment morphology	55750	AGK	ORPHA:1369
HP:0004328	Abnormal anterior eye segment morphology	2776	GNAQ	ORPHA:3205
HP:0004328	Abnormal anterior eye segment morphology	51360	MBTPS2	OMIM:308800
HP:0004328	Abnormal anterior eye segment morphology	2652	OPN1MW	ORPHA:16
HP:0004328	Abnormal anterior eye segment morphology	5956	OPN1LW	ORPHA:16
HP:0004328	Abnormal anterior eye segment morphology	23404	EXOSC2	OMIM:617763
HP:0004328	Abnormal anterior eye segment morphology	3859	KRT12	OMIM:122100
HP:0004328	Abnormal anterior eye segment morphology	123624	AGBL1	OMIM:615523
HP:0004328	Abnormal anterior eye segment morphology	4591	TRIM37	OMIM:253250
HP:0004328	Abnormal anterior eye segment morphology	2703	GJA8	ORPHA:1377
HP:0004328	Abnormal anterior eye segment morphology	4094	MAF	ORPHA:1377
HP:0004328	Abnormal anterior eye segment morphology	1413	CRYBA4	ORPHA:1377
HP:0004328	Abnormal anterior eye segment morphology	1409	CRYAA	ORPHA:1377
HP:0004328	Abnormal anterior eye segment morphology	1415	CRYBB2	ORPHA:1377
HP:0004328	Abnormal anterior eye segment morphology	1414	CRYBB1	ORPHA:1377
HP:0004328	Abnormal anterior eye segment morphology	1420	CRYGC	ORPHA:1377
HP:0004328	Abnormal anterior eye segment morphology	1421	CRYGD	ORPHA:1377
HP:0004328	Abnormal anterior eye segment morphology	11107	PRDM5	ORPHA:90354
HP:0004328	Abnormal anterior eye segment morphology	57551	TAOK1	OMIM:619575
HP:0004328	Abnormal anterior eye segment morphology	51163	DBR1	OMIM:620510
HP:0004328	Abnormal anterior eye segment morphology	2260	FGFR1	OMIM:613001
HP:0004328	Abnormal anterior eye segment morphology	3845	KRAS	ORPHA:3339
HP:0004328	Abnormal anterior eye segment morphology	3845	KRAS	OMIM:600268
HP:0004328	Abnormal anterior eye segment morphology	207	AKT1	OMIM:176920
HP:0004328	Abnormal anterior eye segment morphology	5332	PLCB4	OMIM:620458
HP:0004328	Abnormal anterior eye segment morphology	5728	PTEN	ORPHA:2969
HP:0004328	Abnormal anterior eye segment morphology	6299	SALL1	ORPHA:857
HP:0004328	Abnormal anterior eye segment morphology	51339	DACT1	ORPHA:857
HP:0004328	Abnormal anterior eye segment morphology	10992	SF3B2	OMIM:164210
HP:0004328	Abnormal anterior eye segment morphology	5961	PRPH2	ORPHA:52427
HP:0004328	Abnormal anterior eye segment morphology	6017	RLBP1	ORPHA:52427
HP:0004328	Abnormal anterior eye segment morphology	5959	RDH5	ORPHA:52427
HP:0004328	Abnormal anterior eye segment morphology	1285	COL4A3	OMIM:104200
HP:0004328	Abnormal anterior eye segment morphology	146167	SLC38A8	OMIM:609218
HP:0004328	Abnormal anterior eye segment morphology	114902	C1QTNF5	ORPHA:67042
HP:0004328	Abnormal anterior eye segment morphology	10484	SEC23A	OMIM:607812
HP:0004328	Abnormal anterior eye segment morphology	55733	HHAT	ORPHA:1422
HP:0004328	Abnormal anterior eye segment morphology	55733	HHAT	OMIM:600092
HP:0004328	Abnormal anterior eye segment morphology	5309	PITX3	OMIM:107250
HP:0004328	Abnormal anterior eye segment morphology	7837	PXDN	OMIM:269400
HP:0004328	Abnormal anterior eye segment morphology	30813	VSX1	OMIM:614195
HP:0004328	Abnormal anterior eye segment morphology	3166	HMX1	OMIM:612109
HP:0004328	Abnormal anterior eye segment morphology	23389	MED13L	ORPHA:369891
HP:0004328	Abnormal anterior eye segment morphology	55714	TENM3	OMIM:615145
HP:0004328	Abnormal anterior eye segment morphology	4140	MARK3	OMIM:618283
HP:0004328	Abnormal anterior eye segment morphology	224	ALDH3A2	OMIM:270200
HP:0004328	Abnormal anterior eye segment morphology	4692	NDN	ORPHA:177904
HP:0004328	Abnormal anterior eye segment morphology	4692	NDN	ORPHA:177901
HP:0004328	Abnormal anterior eye segment morphology	4692	NDN	ORPHA:177910
HP:0004328	Abnormal anterior eye segment morphology	4692	NDN	ORPHA:98754
HP:0004328	Abnormal anterior eye segment morphology	54551	MAGEL2	ORPHA:177904
HP:0004328	Abnormal anterior eye segment morphology	54551	MAGEL2	ORPHA:177901
HP:0004328	Abnormal anterior eye segment morphology	54551	MAGEL2	ORPHA:177910
HP:0004328	Abnormal anterior eye segment morphology	54551	MAGEL2	ORPHA:98754
HP:0004328	Abnormal anterior eye segment morphology	50939	IMPG2	ORPHA:99000
HP:0004328	Abnormal anterior eye segment morphology	3617	IMPG1	ORPHA:99000
HP:0004328	Abnormal anterior eye segment morphology	1130	LYST	ORPHA:167
HP:0004328	Abnormal anterior eye segment morphology	1130	LYST	OMIM:214500
HP:0004328	Abnormal anterior eye segment morphology	57194	ATP10A	ORPHA:411515
HP:0004328	Abnormal anterior eye segment morphology	4644	MYO5A	ORPHA:79476
HP:0004328	Abnormal anterior eye segment morphology	4644	MYO5A	ORPHA:79478
HP:0004328	Abnormal anterior eye segment morphology	5873	RAB27A	ORPHA:79477
HP:0004328	Abnormal anterior eye segment morphology	79083	MLPH	ORPHA:79478
HP:0004328	Abnormal anterior eye segment morphology	2588	GALNS	OMIM:253000
HP:0004328	Abnormal anterior eye segment morphology	114548	NLRP3	OMIM:148200
HP:0004328	Abnormal anterior eye segment morphology	2312	FLG	ORPHA:461
HP:0004328	Abnormal anterior eye segment morphology	84572	GNPTG	OMIM:252605
HP:0004328	Abnormal anterior eye segment morphology	3977	LIFR	OMIM:601559
HP:0004328	Abnormal anterior eye segment morphology	6399	TRAPPC2	OMIM:313400
HP:0004328	Abnormal anterior eye segment morphology	3982	LIM2	OMIM:615277
HP:0004328	Abnormal anterior eye segment morphology	128866	CHMP4B	OMIM:605387
HP:0004328	Abnormal anterior eye segment morphology	1121	CHM	ORPHA:180
HP:0004328	Abnormal anterior eye segment morphology	755	CFAP410	OMIM:617547
HP:0004328	Abnormal anterior eye segment morphology	146862	UNC45B	OMIM:616279
HP:0004328	Abnormal anterior eye segment morphology	4627	MYH9	ORPHA:182050
HP:0004328	Abnormal anterior eye segment morphology	4507	MTAP	OMIM:112250
HP:0004328	Abnormal anterior eye segment morphology	5696	PSMB8	OMIM:256040
HP:0004328	Abnormal anterior eye segment morphology	285440	CYP4V2	OMIM:210370
HP:0004328	Abnormal anterior eye segment morphology	1763	DNA2	OMIM:620819
HP:0004328	Abnormal anterior eye segment morphology	8518	ELP1	ORPHA:1764
HP:0004328	Abnormal anterior eye segment morphology	23556	PIGN	ORPHA:2059
HP:0004328	Abnormal anterior eye segment morphology	5832	ALDH18A1	OMIM:616603
HP:0004328	Abnormal anterior eye segment morphology	5832	ALDH18A1	ORPHA:90348
HP:0004328	Abnormal anterior eye segment morphology	145173	B3GLCT	ORPHA:709
HP:0004328	Abnormal anterior eye segment morphology	220202	ATOH7	ORPHA:91495
HP:0004328	Abnormal anterior eye segment morphology	220202	ATOH7	OMIM:221900
HP:0004328	Abnormal anterior eye segment morphology	8322	FZD4	ORPHA:91495
HP:0004328	Abnormal anterior eye segment morphology	80144	FRAS1	OMIM:219000
HP:0004328	Abnormal anterior eye segment morphology	126792	B3GALT6	OMIM:609465
HP:0004328	Abnormal anterior eye segment morphology	4758	NEU1	ORPHA:93399
HP:0004328	Abnormal anterior eye segment morphology	4758	NEU1	ORPHA:812
HP:0004328	Abnormal anterior eye segment morphology	4758	NEU1	ORPHA:93400
HP:0004328	Abnormal anterior eye segment morphology	411	ARSB	OMIM:253200
HP:0004328	Abnormal anterior eye segment morphology	55593	OTUD5	OMIM:301056
HP:0004328	Abnormal anterior eye segment morphology	4125	MAN2B1	ORPHA:309282
HP:0004328	Abnormal anterior eye segment morphology	4125	MAN2B1	ORPHA:309288
HP:0004328	Abnormal anterior eye segment morphology	54101	RIPK4	ORPHA:1234
HP:0004328	Abnormal anterior eye segment morphology	6905	TBCE	ORPHA:2323
HP:0004328	Abnormal anterior eye segment morphology	10413	YAP1	ORPHA:1473
HP:0004328	Abnormal anterior eye segment morphology	4952	OCRL	ORPHA:534
HP:0004328	Abnormal anterior eye segment morphology	2218	FKTN	OMIM:236670
HP:0004328	Abnormal anterior eye segment morphology	2218	FKTN	ORPHA:899
HP:0004328	Abnormal anterior eye segment morphology	9215	LARGE1	OMIM:236670
HP:0004328	Abnormal anterior eye segment morphology	9215	LARGE1	ORPHA:899
HP:0004328	Abnormal anterior eye segment morphology	84892	POMGNT2	ORPHA:899
HP:0004328	Abnormal anterior eye segment morphology	148789	B3GALNT2	ORPHA:899
HP:0004328	Abnormal anterior eye segment morphology	1282	COL4A1	ORPHA:899
HP:0004328	Abnormal anterior eye segment morphology	1282	COL4A1	OMIM:175780
HP:0004328	Abnormal anterior eye segment morphology	729920	CRPPA	ORPHA:899
HP:0004328	Abnormal anterior eye segment morphology	10329	RXYLT1	ORPHA:899
HP:0004328	Abnormal anterior eye segment morphology	1605	DAG1	ORPHA:899
HP:0004328	Abnormal anterior eye segment morphology	11041	B4GAT1	ORPHA:899
HP:0004328	Abnormal anterior eye segment morphology	427	ASAH1	ORPHA:333
HP:0004328	Abnormal anterior eye segment morphology	5980	REV3L	ORPHA:570
HP:0004328	Abnormal anterior eye segment morphology	23129	PLXND1	ORPHA:570
HP:0004328	Abnormal anterior eye segment morphology	3423	IDS	ORPHA:217085
HP:0004328	Abnormal anterior eye segment morphology	3423	IDS	ORPHA:217093
HP:0004328	Abnormal anterior eye segment morphology	5155	PDGFB	ORPHA:1980
HP:0004328	Abnormal anterior eye segment morphology	9213	XPR1	ORPHA:1980
HP:0004328	Abnormal anterior eye segment morphology	5159	PDGFRB	ORPHA:1980
HP:0004328	Abnormal anterior eye segment morphology	5159	PDGFRB	OMIM:601812
HP:0004328	Abnormal anterior eye segment morphology	57462	MYORG	ORPHA:1980
HP:0004328	Abnormal anterior eye segment morphology	6575	SLC20A2	ORPHA:1980
HP:0004328	Abnormal anterior eye segment morphology	58494	JAM2	ORPHA:1980
HP:0004328	Abnormal anterior eye segment morphology	412	STS	ORPHA:281090
HP:0004328	Abnormal anterior eye segment morphology	27151	CPAMD8	OMIM:617319
HP:0004328	Abnormal anterior eye segment morphology	93627	TBCK	OMIM:616900
HP:0004328	Abnormal anterior eye segment morphology	93627	TBCK	ORPHA:488632
HP:0004328	Abnormal anterior eye segment morphology	1147	CHUK	OMIM:619339
HP:0004328	Abnormal anterior eye segment morphology	4323	MMP14	OMIM:277950
HP:0004328	Abnormal anterior eye segment morphology	54539	NDUFB11	ORPHA:2556
HP:0004328	Abnormal anterior eye segment morphology	1349	COX7B	ORPHA:2556
HP:0004328	Abnormal anterior eye segment morphology	3052	HCCS	ORPHA:2556
HP:0004328	Abnormal anterior eye segment morphology	6768	ST14	OMIM:602400
HP:0004328	Abnormal anterior eye segment morphology	6898	TAT	ORPHA:28378
HP:0004328	Abnormal anterior eye segment morphology	9184	BUB3	ORPHA:1052
HP:0004328	Abnormal anterior eye segment morphology	699	BUB1	ORPHA:1052
HP:0004328	Abnormal anterior eye segment morphology	9702	CEP57	ORPHA:1052
HP:0004328	Abnormal anterior eye segment morphology	9319	TRIP13	ORPHA:1052
HP:0004328	Abnormal anterior eye segment morphology	701	BUB1B	ORPHA:1052
HP:0004328	Abnormal anterior eye segment morphology	4053	LTBP2	OMIM:613086
HP:0004328	Abnormal anterior eye segment morphology	4053	LTBP2	ORPHA:98976
HP:0004328	Abnormal anterior eye segment morphology	2720	GLB1	OMIM:253010
HP:0004328	Abnormal anterior eye segment morphology	4041	LRP5	ORPHA:2788
HP:0004328	Abnormal anterior eye segment morphology	1301	COL11A1	ORPHA:90654
HP:0004328	Abnormal anterior eye segment morphology	3425	IDUA	OMIM:607014
HP:0004328	Abnormal anterior eye segment morphology	3425	IDUA	OMIM:607016
HP:0004328	Abnormal anterior eye segment morphology	3425	IDUA	OMIM:607015
HP:0004328	Abnormal anterior eye segment morphology	3425	IDUA	ORPHA:93474
HP:0004328	Abnormal anterior eye segment morphology	3425	IDUA	ORPHA:93473
HP:0004328	Abnormal anterior eye segment morphology	3425	IDUA	ORPHA:93476
HP:0004328	Abnormal anterior eye segment morphology	2707	GJB3	ORPHA:317
HP:0004328	Abnormal anterior eye segment morphology	2531	KDSR	ORPHA:317
HP:0004328	Abnormal anterior eye segment morphology	127534	GJB4	ORPHA:317
HP:0004328	Abnormal anterior eye segment morphology	9487	PIGL	ORPHA:3474
HP:0004328	Abnormal anterior eye segment morphology	11081	KERA	OMIM:217300
HP:0004328	Abnormal anterior eye segment morphology	5476	CTSA	ORPHA:351
HP:0004328	Abnormal anterior eye segment morphology	55768	NGLY1	OMIM:615273
HP:0004328	Abnormal anterior eye segment morphology	2629	GBA1	ORPHA:85212
HP:0004328	Abnormal anterior eye segment morphology	2629	GBA1	ORPHA:2072
HP:0004328	Abnormal anterior eye segment morphology	64840	PORCN	ORPHA:2092
HP:0004328	Abnormal anterior eye segment morphology	4519	MT-CYB	ORPHA:137675
HP:0004328	Abnormal anterior eye segment morphology	4762	NEUROG1	OMIM:620469
HP:0004328	Abnormal anterior eye segment morphology	6804	STX1A	ORPHA:904
HP:0004328	Abnormal anterior eye segment morphology	7461	CLIP2	ORPHA:904
HP:0004328	Abnormal anterior eye segment morphology	84277	DNAJC30	ORPHA:904
HP:0004328	Abnormal anterior eye segment morphology	8468	FKBP6	ORPHA:904
HP:0004328	Abnormal anterior eye segment morphology	5982	RFC2	ORPHA:904
HP:0004328	Abnormal anterior eye segment morphology	2969	GTF2I	ORPHA:904
HP:0004328	Abnormal anterior eye segment morphology	3984	LIMK1	ORPHA:904
HP:0004328	Abnormal anterior eye segment morphology	9569	GTF2IRD1	ORPHA:904
HP:0004328	Abnormal anterior eye segment morphology	155382	VPS37D	ORPHA:904
HP:0004328	Abnormal anterior eye segment morphology	155368	METTL27	ORPHA:904
HP:0004328	Abnormal anterior eye segment morphology	114049	BUD23	ORPHA:904
HP:0004328	Abnormal anterior eye segment morphology	7458	EIF4H	ORPHA:904
HP:0004328	Abnormal anterior eye segment morphology	84163	GTF2IRD2	ORPHA:904
HP:0004328	Abnormal anterior eye segment morphology	26608	TBL2	ORPHA:904
HP:0004328	Abnormal anterior eye segment morphology	653361	NCF1	ORPHA:904
HP:0004328	Abnormal anterior eye segment morphology	135886	TMEM270	ORPHA:904
HP:0004328	Abnormal anterior eye segment morphology	9031	BAZ1B	ORPHA:904
HP:0004328	Abnormal anterior eye segment morphology	4893	NRAS	OMIM:163200
HP:0004328	Abnormal anterior eye segment morphology	3265	HRAS	OMIM:163200
HP:0004328	Abnormal anterior eye segment morphology	1859	DYRK1A	ORPHA:464311
HP:0004328	Abnormal anterior eye segment morphology	2517	FUCA1	ORPHA:349
HP:0004328	Abnormal anterior eye segment morphology	285362	SUMF1	OMIM:272200
HP:0004328	Abnormal anterior eye segment morphology	285362	SUMF1	ORPHA:585
HP:0004328	Abnormal anterior eye segment morphology	8517	IKBKG	ORPHA:464
HP:0004328	Abnormal anterior eye segment morphology	2990	GUSB	ORPHA:584
HP:0004328	Abnormal anterior eye segment morphology	2990	GUSB	OMIM:253220
HP:0004328	Abnormal anterior eye segment morphology	4000	LMNA	ORPHA:740
HP:0004328	Abnormal anterior eye segment morphology	10269	ZMPSTE24	ORPHA:740
HP:0004328	Abnormal anterior eye segment morphology	55210	ATAD3A	ORPHA:496790
HP:0004328	Abnormal anterior eye segment morphology	55210	ATAD3A	OMIM:617183
HP:0004328	Abnormal anterior eye segment morphology	162514	TRPV3	OMIM:614594
HP:0004328	Abnormal anterior eye segment morphology	5130	PCYT1A	ORPHA:85167
HP:0004328	Abnormal anterior eye segment morphology	5130	PCYT1A	OMIM:608940
HP:0004328	Abnormal anterior eye segment morphology	50485	SMARCAL1	ORPHA:1830
HP:0004328	Abnormal anterior eye segment morphology	6925	TCF4	OMIM:613267
HP:0004328	Abnormal anterior eye segment morphology	6925	TCF4	ORPHA:98974
HP:0004328	Abnormal anterior eye segment morphology	3931	LCAT	ORPHA:79292
HP:0004328	Abnormal anterior eye segment morphology	57192	MCOLN1	ORPHA:578
HP:0004328	Abnormal anterior eye segment morphology	57192	MCOLN1	OMIM:252650
HP:0004328	Abnormal anterior eye segment morphology	11128	POLR3A	ORPHA:3455
HP:0004328	Abnormal anterior eye segment morphology	19	ABCA1	ORPHA:31150
HP:0004328	Abnormal anterior eye segment morphology	5331	PLCB3	OMIM:618961
HP:0004328	Abnormal anterior eye segment morphology	55612	FERMT1	ORPHA:2908
HP:0004328	Abnormal anterior eye segment morphology	10848	PPP1R13L	OMIM:620519
HP:0004328	Abnormal anterior eye segment morphology	10516	FBLN5	ORPHA:90348
HP:0004328	Abnormal anterior eye segment morphology	9939	RBM8A	OMIM:274000
HP:0004328	Abnormal anterior eye segment morphology	79158	GNPTAB	ORPHA:423461
HP:0004328	Abnormal anterior eye segment morphology	4313	MMP2	OMIM:259600
HP:0004328	Abnormal anterior eye segment morphology	117581	TWIST2	ORPHA:920
HP:0004328	Abnormal anterior eye segment morphology	157570	ESCO2	OMIM:268300
HP:0004328	Abnormal anterior eye segment morphology	2317	FLNB	OMIM:150250
HP:0004328	Abnormal anterior eye segment morphology	3832	KIF11	OMIM:152950
HP:0004328	Abnormal anterior eye segment morphology	58495	OVOL2	OMIM:122000
HP:0004328	Abnormal anterior eye segment morphology	58495	OVOL2	ORPHA:98973
HP:0004328	Abnormal anterior eye segment morphology	9935	MAFB	OMIM:166300
HP:0004328	Abnormal anterior eye segment morphology	55670	PEX26	ORPHA:912
HP:0004328	Abnormal anterior eye segment morphology	5824	PEX19	ORPHA:912
HP:0004328	Abnormal anterior eye segment morphology	5828	PEX2	ORPHA:912
HP:0004328	Abnormal anterior eye segment morphology	8504	PEX3	ORPHA:912
HP:0004328	Abnormal anterior eye segment morphology	8799	PEX11B	ORPHA:912
HP:0004328	Abnormal anterior eye segment morphology	9409	PEX16	ORPHA:912
HP:0004328	Abnormal anterior eye segment morphology	5190	PEX6	ORPHA:912
HP:0004328	Abnormal anterior eye segment morphology	5830	PEX5	ORPHA:912
HP:0004328	Abnormal anterior eye segment morphology	5189	PEX1	ORPHA:912
HP:0004328	Abnormal anterior eye segment morphology	5193	PEX12	ORPHA:912
HP:0004328	Abnormal anterior eye segment morphology	5194	PEX13	ORPHA:912
HP:0004328	Abnormal anterior eye segment morphology	5195	PEX14	ORPHA:912
HP:0004328	Abnormal anterior eye segment morphology	5192	PEX10	ORPHA:912
HP:0004328	Abnormal anterior eye segment morphology	7010	TEK	ORPHA:98976
HP:0004328	Abnormal anterior eye segment morphology	3852	KRT5	ORPHA:79396
HP:0004328	Abnormal anterior eye segment morphology	3861	KRT14	ORPHA:79396
HP:0004328	Abnormal anterior eye segment morphology	79977	GRHL2	ORPHA:98973
HP:0004328	Abnormal anterior eye segment morphology	54808	DYM	ORPHA:239
HP:0004328	Abnormal anterior eye segment morphology	200576	PIKFYVE	OMIM:121850
HP:0004328	Abnormal anterior eye segment morphology	1427	CRYGS	OMIM:116100
HP:0004328	Abnormal anterior eye segment morphology	631	BFSP1	OMIM:611391
HP:0004328	Abnormal anterior eye segment morphology	4284	MIP	OMIM:615274
HP:0004328	Abnormal anterior eye segment morphology	84816	RTN4IP1	OMIM:616732
HP:0004328	Abnormal anterior eye segment morphology	283652	SLC24A5	ORPHA:370097
HP:0004328	Abnormal anterior eye segment morphology	2956	MSH6	OMIM:619097
HP:0004328	Abnormal anterior eye segment morphology	1656	DDX6	OMIM:618653
HP:0004328	Abnormal anterior eye segment morphology	79628	SH3TC2	ORPHA:99949
HP:0004328	Abnormal anterior eye segment morphology	6909	TBX2	OMIM:618223
HP:0004328	Abnormal anterior eye segment morphology	35	ACADS	OMIM:201470
HP:0004328	Abnormal anterior eye segment morphology	6655	SOS2	OMIM:616559
HP:0004328	Abnormal anterior eye segment morphology	3299	HSF4	OMIM:116800
HP:0004328	Abnormal anterior eye segment morphology	2700	GJA3	OMIM:601885
HP:0004328	Abnormal anterior eye segment morphology	55229	PANK4	OMIM:619593
HP:0004328	Abnormal anterior eye segment morphology	9227	LRAT	ORPHA:364055
HP:0004328	Abnormal anterior eye segment morphology	55812	SPATA7	ORPHA:364055
HP:0004328	Abnormal anterior eye segment morphology	6121	RPE65	ORPHA:364055
HP:0004328	Abnormal anterior eye segment morphology	167691	LCA5	ORPHA:364055
HP:0004328	Abnormal anterior eye segment morphology	6720	SREBF1	OMIM:158310
HP:0004328	Abnormal anterior eye segment morphology	1312	COMT	ORPHA:567
HP:0004328	Abnormal anterior eye segment morphology	221037	JMJD1C	ORPHA:567
HP:0004328	Abnormal anterior eye segment morphology	2812	GP1BB	ORPHA:567
HP:0004328	Abnormal anterior eye segment morphology	6239	RREB1	ORPHA:567
HP:0004328	Abnormal anterior eye segment morphology	6899	TBX1	ORPHA:567
HP:0004328	Abnormal anterior eye segment morphology	7290	HIRA	ORPHA:567
HP:0004328	Abnormal anterior eye segment morphology	9632	SEC24C	ORPHA:567
HP:0004328	Abnormal anterior eye segment morphology	7353	UFD1	ORPHA:567
HP:0004328	Abnormal anterior eye segment morphology	421	ARVCF	ORPHA:567
HP:0004328	Abnormal anterior eye segment morphology	7490	WT1	OMIM:106210
HP:0004328	Abnormal anterior eye segment morphology	2068	ERCC2	OMIM:278730
HP:0004328	Abnormal anterior eye segment morphology	92154	MTSS2	OMIM:620086
HP:0004328	Abnormal anterior eye segment morphology	8314	BAP1	ORPHA:39044
HP:0004328	Abnormal anterior eye segment morphology	57105	CYSLTR2	ORPHA:39044
HP:0004328	Abnormal anterior eye segment morphology	2767	GNA11	ORPHA:39044
HP:0004328	Abnormal anterior eye segment morphology	23451	SF3B1	ORPHA:39044
HP:0004328	Abnormal anterior eye segment morphology	488	ATP2A2	ORPHA:218
HP:0004328	Abnormal anterior eye segment morphology	29926	GMPPA	ORPHA:869
HP:0004328	Abnormal anterior eye segment morphology	8086	AAAS	ORPHA:869
HP:0004328	Abnormal anterior eye segment morphology	7389	UROD	ORPHA:95159
HP:0004328	Abnormal anterior eye segment morphology	4547	MTTP	ORPHA:14
HP:0004328	Abnormal anterior eye segment morphology	63915	BLOC1S5	OMIM:619172
HP:0004328	Abnormal anterior eye segment morphology	11234	HPS5	OMIM:614074
HP:0004328	Abnormal anterior eye segment morphology	1638	DCT	OMIM:619165
HP:0004328	Abnormal anterior eye segment morphology	79803	HPS6	OMIM:614075
HP:0004328	Abnormal anterior eye segment morphology	11152	WDR45	OMIM:615179
HP:0004328	Abnormal anterior eye segment morphology	83938	LRMDA	OMIM:615179
HP:0004328	Abnormal anterior eye segment morphology	710	SERPING1	ORPHA:100050
HP:0004328	Abnormal anterior eye segment morphology	2670	GFAP	OMIM:203450
HP:0004328	Abnormal anterior eye segment morphology	3081	HGD	ORPHA:56
HP:0004328	Abnormal anterior eye segment morphology	22861	NLRP1	OMIM:615225
HP:0004328	Abnormal anterior eye segment morphology	10804	GJB6	ORPHA:477
HP:0004328	Abnormal anterior eye segment morphology	2706	GJB2	ORPHA:477
HP:0004328	Abnormal anterior eye segment morphology	5080	PAX6	ORPHA:2334
HP:0004328	Abnormal anterior eye segment morphology	5080	PAX6	ORPHA:250923
HP:0004328	Abnormal anterior eye segment morphology	2263	FGFR2	OMIM:149730
HP:0004328	Abnormal anterior eye segment morphology	2263	FGFR2	ORPHA:2363
HP:0004328	Abnormal anterior eye segment morphology	2261	FGFR3	ORPHA:2363
HP:0004328	Abnormal anterior eye segment morphology	2255	FGF10	ORPHA:2363
HP:0004328	Abnormal anterior eye segment morphology	4921	DDR2	OMIM:618175
HP:0004328	Abnormal anterior eye segment morphology	54765	TRIM44	ORPHA:250923
HP:0004328	Abnormal anterior eye segment morphology	10935	PRDX3	OMIM:619871
HP:0004328	Abnormal anterior eye segment morphology	10216	PRG4	ORPHA:2848
HP:0004328	Abnormal anterior eye segment morphology	79443	FYCO1	OMIM:610019
HP:0004328	Abnormal anterior eye segment morphology	113457	TUBA3D	OMIM:617928
HP:0004328	Abnormal anterior eye segment morphology	23291	FBXW11	OMIM:618914
HP:0004328	Abnormal anterior eye segment morphology	10320	IKZF1	ORPHA:36426
HP:0004328	Abnormal anterior eye segment morphology	10653	SPINT2	OMIM:270420
HP:0004328	Abnormal anterior eye segment morphology	55630	SLC39A4	ORPHA:37
HP:0004328	Abnormal anterior eye segment morphology	4312	MMP1	ORPHA:79408
HP:0004328	Abnormal anterior eye segment morphology	540	ATP7B	ORPHA:905
HP:0004328	Abnormal anterior eye segment morphology	540	ATP7B	OMIM:277900
HP:0004328	Abnormal anterior eye segment morphology	7407	VARS1	OMIM:617802
HP:0004328	Abnormal anterior eye segment morphology	1261	CNGA3	OMIM:216900
HP:0004328	Abnormal anterior eye segment morphology	7030	TFE3	OMIM:301066
HP:0004328	Abnormal anterior eye segment morphology	23162	MAPK8IP3	OMIM:618443
HP:0004328	Abnormal anterior eye segment morphology	1278	COL1A2	ORPHA:230851
HP:0004328	Abnormal anterior eye segment morphology	158326	FREM1	OMIM:248450
HP:0004327	Abnormal vitreous humor morphology	8322	FZD4	OMIM:133780
HP:0004327	Abnormal vitreous humor morphology	79797	ZNF408	OMIM:616468
HP:0004327	Abnormal vitreous humor morphology	1301	COL11A1	OMIM:604841
HP:0004327	Abnormal vitreous humor morphology	1301	COL11A1	ORPHA:560
HP:0004327	Abnormal vitreous humor morphology	1301	COL11A1	ORPHA:90654
HP:0004327	Abnormal vitreous humor morphology	1280	COL2A1	ORPHA:90653
HP:0004327	Abnormal vitreous humor morphology	1280	COL2A1	ORPHA:93296
HP:0004327	Abnormal vitreous humor morphology	4041	LRP5	ORPHA:2788
HP:0004327	Abnormal vitreous humor morphology	652	BMP4	ORPHA:828
HP:0004327	Abnormal vitreous humor morphology	80781	COL18A1	ORPHA:1571
HP:0004327	Abnormal vitreous humor morphology	5062	PAK2	ORPHA:1571
HP:0004327	Abnormal vitreous humor morphology	57096	RPGRIP1	OMIM:613826
HP:0004327	Abnormal vitreous humor morphology	4693	NDP	ORPHA:649
HP:0004327	Abnormal vitreous humor morphology	54539	NDUFB11	ORPHA:2556
HP:0004327	Abnormal vitreous humor morphology	1349	COX7B	ORPHA:2556
HP:0004327	Abnormal vitreous humor morphology	3052	HCCS	ORPHA:2556
HP:0004327	Abnormal vitreous humor morphology	10002	NR2E3	OMIM:268100
HP:0004327	Abnormal vitreous humor morphology	1499	CTNNB1	ORPHA:891
HP:0004327	Abnormal vitreous humor morphology	23554	TSPAN12	ORPHA:891
HP:0004327	Abnormal vitreous humor morphology	726	CAPN5	OMIM:193235
HP:0004327	Abnormal vitreous humor morphology	1298	COL9A2	OMIM:614284
HP:0004327	Abnormal vitreous humor morphology	1298	COL9A2	ORPHA:250984
HP:0004327	Abnormal vitreous humor morphology	23418	CRB1	OMIM:172870
HP:0004327	Abnormal vitreous humor morphology	1297	COL9A1	ORPHA:250984
HP:0004327	Abnormal vitreous humor morphology	1299	COL9A3	ORPHA:250984
HP:0004327	Abnormal vitreous humor morphology	1462	VCAN	OMIM:143200
HP:0004327	Abnormal vitreous humor morphology	7276	TTR	OMIM:105210
HP:0004327	Abnormal vitreous humor morphology	6247	RS1	ORPHA:792
HP:0004327	Abnormal vitreous humor morphology	6247	RS1	OMIM:312700
HP:0004327	Abnormal vitreous humor morphology	7439	BEST1	OMIM:193220
HP:0004327	Abnormal vitreous humor morphology	5624	PROC	OMIM:612304
HP:0004327	Abnormal vitreous humor morphology	5925	RB1	OMIM:180200
HP:0004327	Abnormal vitreous humor morphology	8314	BAP1	ORPHA:39044
HP:0004327	Abnormal vitreous humor morphology	57105	CYSLTR2	ORPHA:39044
HP:0004327	Abnormal vitreous humor morphology	2776	GNAQ	ORPHA:39044
HP:0004327	Abnormal vitreous humor morphology	2767	GNA11	ORPHA:39044
HP:0004327	Abnormal vitreous humor morphology	23451	SF3B1	ORPHA:39044
HP:0004327	Abnormal vitreous humor morphology	90952	ESAM	OMIM:620371
HP:0004327	Abnormal vitreous humor morphology	23137	SMC5	OMIM:620185
HP:0004327	Abnormal vitreous humor morphology	2065	ERBB3	OMIM:607598
HP:0004327	Abnormal vitreous humor morphology	1302	COL11A2	ORPHA:1427
HP:0004327	Abnormal vitreous humor morphology	220202	ATOH7	OMIM:221900
HP:0004327	Abnormal vitreous humor morphology	220202	ATOH7	ORPHA:91495
HP:0004327	Abnormal vitreous humor morphology	54880	BCOR	OMIM:300166
HP:0004327	Abnormal vitreous humor morphology	57479	PRR12	OMIM:619539
HP:0004327	Abnormal vitreous humor morphology	729920	CRPPA	OMIM:614643
HP:0004327	Abnormal vitreous humor morphology	5080	PAX6	OMIM:165550
HP:0004327	Abnormal vitreous humor morphology	5080	PAX6	OMIM:120200
HP:0004327	Abnormal vitreous humor morphology	4771	NF2	ORPHA:637
HP:0004327	Abnormal vitreous humor morphology	3913	LAMB2	OMIM:609049
HP:0004327	Abnormal vitreous humor morphology	57688	ZSWIM6	OMIM:603671
HP:0004327	Abnormal vitreous humor morphology	6496	SIX3	OMIM:157170
HP:0004327	Abnormal vitreous humor morphology	3105	HLA-A	ORPHA:179
HP:0004327	Abnormal vitreous humor morphology	3769	KCNJ13	OMIM:193230
HP:0004327	Abnormal vitreous humor morphology	403	ARL3	OMIM:618173
HP:0004327	Abnormal vitreous humor morphology	10594	PRPF8	OMIM:600059
HP:0004327	Abnormal vitreous humor morphology	153642	ARSK	OMIM:619698
HP:0004327	Abnormal vitreous humor morphology	55214	P3H2	OMIM:614292
HP:0004326	Cachexia	8506	CNTNAP1	OMIM:618186
HP:0004326	Cachexia	6340	SCNN1G	ORPHA:60033
HP:0004326	Cachexia	1080	CFTR	ORPHA:60033
HP:0004326	Cachexia	6337	SCNN1A	ORPHA:60033
HP:0004326	Cachexia	6338	SCNN1B	ORPHA:60033
HP:0004326	Cachexia	54832	VPS13C	OMIM:616840
HP:0004326	Cachexia	652	BMP4	ORPHA:828
HP:0004326	Cachexia	285175	UNC80	OMIM:616801
HP:0004326	Cachexia	285175	UNC80	ORPHA:371364
HP:0004326	Cachexia	259232	NALCN	ORPHA:371364
HP:0004326	Cachexia	1890	TYMP	OMIM:603041
HP:0004326	Cachexia	1890	TYMP	ORPHA:298
HP:0004326	Cachexia	5428	POLG	OMIM:603041
HP:0004326	Cachexia	5428	POLG	OMIM:613662
HP:0004326	Cachexia	5428	POLG	ORPHA:298
HP:0004326	Cachexia	5728	PTEN	ORPHA:109
HP:0004326	Cachexia	5728	PTEN	ORPHA:79076
HP:0004326	Cachexia	811	CALR	ORPHA:824
HP:0004326	Cachexia	4352	MPL	ORPHA:824
HP:0004326	Cachexia	3717	JAK2	ORPHA:824
HP:0004326	Cachexia	54790	TET2	ORPHA:824
HP:0004326	Cachexia	7040	TGFB1	ORPHA:1328
HP:0004326	Cachexia	9935	MAFB	ORPHA:2774
HP:0004326	Cachexia	4591	TRIM37	ORPHA:2576
HP:0004326	Cachexia	207	AKT1	ORPHA:744
HP:0004326	Cachexia	2521	FUS	ORPHA:300605
HP:0004326	Cachexia	2521	FUS	ORPHA:803
HP:0004326	Cachexia	80208	SPG11	ORPHA:300605
HP:0004326	Cachexia	10280	SIGMAR1	ORPHA:300605
HP:0004326	Cachexia	10558	SPTLC1	ORPHA:300605
HP:0004326	Cachexia	57679	ALS2	ORPHA:300605
HP:0004326	Cachexia	6535	SLC6A8	ORPHA:52503
HP:0004326	Cachexia	2130	EWSR1	ORPHA:83469
HP:0004326	Cachexia	7490	WT1	ORPHA:83469
HP:0004326	Cachexia	2670	GFAP	ORPHA:363717
HP:0004326	Cachexia	2068	ERCC2	ORPHA:220295
HP:0004326	Cachexia	2073	ERCC5	ORPHA:220295
HP:0004326	Cachexia	2072	ERCC4	ORPHA:220295
HP:0004326	Cachexia	2072	ERCC4	OMIM:610965
HP:0004326	Cachexia	2071	ERCC3	ORPHA:220295
HP:0004326	Cachexia	8450	CUL4B	ORPHA:85293
HP:0004326	Cachexia	3662	IRF4	ORPHA:3452
HP:0004326	Cachexia	3980	LIG3	ORPHA:298
HP:0004326	Cachexia	50484	RRM2B	ORPHA:298
HP:0004326	Cachexia	50484	RRM2B	OMIM:612075
HP:0004326	Cachexia	3988	LIPA	ORPHA:75233
HP:0004326	Cachexia	9663	LPIN2	ORPHA:77297
HP:0004326	Cachexia	34	ACADM	ORPHA:42
HP:0004326	Cachexia	4000	LMNA	ORPHA:157973
HP:0004326	Cachexia	2629	GBA1	ORPHA:2072
HP:0004326	Cachexia	10479	SLC9A6	ORPHA:85278
HP:0004326	Cachexia	50943	FOXP3	ORPHA:37042
HP:0004326	Cachexia	6240	RRM1	OMIM:620647
HP:0004326	Cachexia	545	ATR	ORPHA:808
HP:0004326	Cachexia	1062	CENPE	ORPHA:808
HP:0004326	Cachexia	5116	PCNT	ORPHA:808
HP:0004326	Cachexia	5932	RBBP8	ORPHA:808
HP:0004326	Cachexia	79902	NUP85	ORPHA:808
HP:0004326	Cachexia	84126	ATRIP	ORPHA:808
HP:0004326	Cachexia	10293	TRAIP	ORPHA:808
HP:0004326	Cachexia	1763	DNA2	ORPHA:808
HP:0004326	Cachexia	22995	CEP152	ORPHA:808
HP:0004326	Cachexia	10733	PLK4	ORPHA:808
HP:0004326	Cachexia	4683	NBN	ORPHA:647
HP:0004326	Cachexia	2581	GALC	ORPHA:206436
HP:0004326	Cachexia	5660	PSAP	ORPHA:206436
HP:0004326	Cachexia	25978	CHMP2B	ORPHA:803
HP:0004326	Cachexia	3178	HNRNPA1	ORPHA:803
HP:0004326	Cachexia	8148	TAF15	ORPHA:803
HP:0004326	Cachexia	5445	PON2	ORPHA:803
HP:0004326	Cachexia	9217	VAPB	ORPHA:803
HP:0004326	Cachexia	8878	SQSTM1	ORPHA:803
HP:0004326	Cachexia	5630	PRPH	ORPHA:803
HP:0004326	Cachexia	29110	TBK1	ORPHA:803
HP:0004326	Cachexia	55830	GLT8D1	ORPHA:803
HP:0004326	Cachexia	755	CFAP410	ORPHA:803
HP:0004326	Cachexia	10891	PPARGC1A	ORPHA:803
HP:0004326	Cachexia	6647	SOD1	ORPHA:803
HP:0004326	Cachexia	10133	OPTN	ORPHA:803
HP:0004326	Cachexia	1639	DCTN1	ORPHA:803
HP:0004326	Cachexia	9896	FIG4	ORPHA:803
HP:0004326	Cachexia	5444	PON1	ORPHA:803
HP:0004326	Cachexia	5446	PON3	ORPHA:803
HP:0004326	Cachexia	4744	NEFH	ORPHA:803
HP:0004326	Cachexia	5216	PFN1	ORPHA:803
HP:0004326	Cachexia	9782	MATR3	ORPHA:803
HP:0004326	Cachexia	54209	TREM2	ORPHA:803
HP:0004326	Cachexia	7415	VCP	ORPHA:803
HP:0004326	Cachexia	283	ANG	ORPHA:803
HP:0004326	Cachexia	23435	TARDBP	ORPHA:803
HP:0004326	Cachexia	29978	UBQLN2	ORPHA:803
HP:0004326	Cachexia	2733	GLE1	ORPHA:803
HP:0004326	Cachexia	4750	NEK1	ORPHA:803
HP:0004326	Cachexia	6311	ATXN2	ORPHA:803
HP:0004326	Cachexia	1610	DAO	ORPHA:803
HP:0004326	Cachexia	2066	ERBB4	ORPHA:803
HP:0004326	Cachexia	311	ANXA11	ORPHA:803
HP:0004326	Cachexia	23025	UNC13A	ORPHA:803
HP:0004326	Cachexia	899	CCNF	ORPHA:803
HP:0004326	Cachexia	400916	CHCHD10	ORPHA:803
HP:0004326	Cachexia	4693	NDP	ORPHA:649
HP:0004326	Cachexia	3339	HSPG2	ORPHA:800
HP:0004326	Cachexia	10273	STUB1	OMIM:618093
HP:0004326	Cachexia	4204	MECP2	OMIM:312750
HP:0004326	Cachexia	657	BMPR1A	ORPHA:79076
HP:0004326	Cachexia	8803	SUCLA2	ORPHA:1933
HP:0004326	Cachexia	59341	TRPV4	ORPHA:1216
HP:0004303	Abnormal muscle fiber morphology	4558	MT-TF	ORPHA:551
HP:0004303	Abnormal muscle fiber morphology	4558	MT-TF	ORPHA:550
HP:0004303	Abnormal muscle fiber morphology	4558	MT-TF	OMIM:540000
HP:0004303	Abnormal muscle fiber morphology	4558	MT-TF	OMIM:545000
HP:0004303	Abnormal muscle fiber morphology	4567	MT-TL1	ORPHA:551
HP:0004303	Abnormal muscle fiber morphology	4567	MT-TL1	ORPHA:550
HP:0004303	Abnormal muscle fiber morphology	4567	MT-TL1	ORPHA:663
HP:0004303	Abnormal muscle fiber morphology	4567	MT-TL1	ORPHA:255210
HP:0004303	Abnormal muscle fiber morphology	4567	MT-TL1	OMIM:540000
HP:0004303	Abnormal muscle fiber morphology	4567	MT-TL1	OMIM:545000
HP:0004303	Abnormal muscle fiber morphology	4567	MT-TL1	ORPHA:480
HP:0004303	Abnormal muscle fiber morphology	4549	MT-RNR1	ORPHA:551
HP:0004303	Abnormal muscle fiber morphology	4574	MT-TS1	ORPHA:551
HP:0004303	Abnormal muscle fiber morphology	4574	MT-TS1	ORPHA:550
HP:0004303	Abnormal muscle fiber morphology	4574	MT-TS1	ORPHA:663
HP:0004303	Abnormal muscle fiber morphology	4574	MT-TS1	OMIM:540000
HP:0004303	Abnormal muscle fiber morphology	4575	MT-TS2	ORPHA:551
HP:0004303	Abnormal muscle fiber morphology	4575	MT-TS2	ORPHA:550
HP:0004303	Abnormal muscle fiber morphology	4575	MT-TS2	OMIM:540000
HP:0004303	Abnormal muscle fiber morphology	4571	MT-TP	ORPHA:551
HP:0004303	Abnormal muscle fiber morphology	4571	MT-TP	OMIM:545000
HP:0004303	Abnormal muscle fiber morphology	4572	MT-TQ	ORPHA:551
HP:0004303	Abnormal muscle fiber morphology	4572	MT-TQ	ORPHA:550
HP:0004303	Abnormal muscle fiber morphology	4572	MT-TQ	OMIM:540000
HP:0004303	Abnormal muscle fiber morphology	4540	MT-ND5	ORPHA:551
HP:0004303	Abnormal muscle fiber morphology	4540	MT-ND5	ORPHA:550
HP:0004303	Abnormal muscle fiber morphology	4540	MT-ND5	ORPHA:255210
HP:0004303	Abnormal muscle fiber morphology	4540	MT-ND5	OMIM:540000
HP:0004303	Abnormal muscle fiber morphology	4566	MT-TK	ORPHA:551
HP:0004303	Abnormal muscle fiber morphology	4566	MT-TK	ORPHA:255210
HP:0004303	Abnormal muscle fiber morphology	4566	MT-TK	OMIM:540000
HP:0004303	Abnormal muscle fiber morphology	4566	MT-TK	ORPHA:1349
HP:0004303	Abnormal muscle fiber morphology	4566	MT-TK	OMIM:545000
HP:0004303	Abnormal muscle fiber morphology	4564	MT-TH	ORPHA:551
HP:0004303	Abnormal muscle fiber morphology	4564	MT-TH	ORPHA:550
HP:0004303	Abnormal muscle fiber morphology	291	SLC25A4	ORPHA:254892
HP:0004303	Abnormal muscle fiber morphology	291	SLC25A4	OMIM:609283
HP:0004303	Abnormal muscle fiber morphology	291	SLC25A4	OMIM:615418
HP:0004303	Abnormal muscle fiber morphology	5428	POLG	ORPHA:254892
HP:0004303	Abnormal muscle fiber morphology	5428	POLG	OMIM:603041
HP:0004303	Abnormal muscle fiber morphology	5428	POLG	OMIM:258450
HP:0004303	Abnormal muscle fiber morphology	5428	POLG	ORPHA:70595
HP:0004303	Abnormal muscle fiber morphology	5428	POLG	ORPHA:254886
HP:0004303	Abnormal muscle fiber morphology	5428	POLG	OMIM:613662
HP:0004303	Abnormal muscle fiber morphology	5428	POLG	ORPHA:298
HP:0004303	Abnormal muscle fiber morphology	5428	POLG	OMIM:157640
HP:0004303	Abnormal muscle fiber morphology	5428	POLG	OMIM:607459
HP:0004303	Abnormal muscle fiber morphology	56652	TWNK	ORPHA:254892
HP:0004303	Abnormal muscle fiber morphology	56652	TWNK	ORPHA:70595
HP:0004303	Abnormal muscle fiber morphology	56652	TWNK	OMIM:609286
HP:0004303	Abnormal muscle fiber morphology	56652	TWNK	OMIM:607459
HP:0004303	Abnormal muscle fiber morphology	11232	POLG2	ORPHA:254892
HP:0004303	Abnormal muscle fiber morphology	50484	RRM2B	ORPHA:254892
HP:0004303	Abnormal muscle fiber morphology	50484	RRM2B	ORPHA:298
HP:0004303	Abnormal muscle fiber morphology	50484	RRM2B	ORPHA:480
HP:0004303	Abnormal muscle fiber morphology	4512	MT-CO1	ORPHA:550
HP:0004303	Abnormal muscle fiber morphology	4512	MT-CO1	OMIM:540000
HP:0004303	Abnormal muscle fiber morphology	4513	MT-CO2	ORPHA:550
HP:0004303	Abnormal muscle fiber morphology	4513	MT-CO2	OMIM:540000
HP:0004303	Abnormal muscle fiber morphology	4514	MT-CO3	ORPHA:550
HP:0004303	Abnormal muscle fiber morphology	4514	MT-CO3	OMIM:540000
HP:0004303	Abnormal muscle fiber morphology	4578	MT-TW	ORPHA:550
HP:0004303	Abnormal muscle fiber morphology	4578	MT-TW	ORPHA:255210
HP:0004303	Abnormal muscle fiber morphology	4578	MT-TW	OMIM:540000
HP:0004303	Abnormal muscle fiber morphology	4541	MT-ND6	ORPHA:550
HP:0004303	Abnormal muscle fiber morphology	4541	MT-ND6	ORPHA:255210
HP:0004303	Abnormal muscle fiber morphology	4541	MT-ND6	OMIM:540000
HP:0004303	Abnormal muscle fiber morphology	4535	MT-ND1	ORPHA:550
HP:0004303	Abnormal muscle fiber morphology	4535	MT-ND1	ORPHA:255210
HP:0004303	Abnormal muscle fiber morphology	4535	MT-ND1	OMIM:540000
HP:0004303	Abnormal muscle fiber morphology	4538	MT-ND4	ORPHA:550
HP:0004303	Abnormal muscle fiber morphology	4538	MT-ND4	ORPHA:255210
HP:0004303	Abnormal muscle fiber morphology	27089	UQCRQ	OMIM:615159
HP:0004303	Abnormal muscle fiber morphology	400916	CHCHD10	OMIM:616209
HP:0004303	Abnormal muscle fiber morphology	400916	CHCHD10	ORPHA:457050
HP:0004303	Abnormal muscle fiber morphology	400916	CHCHD10	ORPHA:276435
HP:0004303	Abnormal muscle fiber morphology	4744	NEFH	OMIM:616924
HP:0004303	Abnormal muscle fiber morphology	2673	GFPT1	OMIM:610542
HP:0004303	Abnormal muscle fiber morphology	2673	GFPT1	ORPHA:353327
HP:0004303	Abnormal muscle fiber morphology	1890	TYMP	OMIM:603041
HP:0004303	Abnormal muscle fiber morphology	1890	TYMP	ORPHA:298
HP:0004303	Abnormal muscle fiber morphology	92667	MGME1	ORPHA:352447
HP:0004303	Abnormal muscle fiber morphology	92667	MGME1	OMIM:615084
HP:0004303	Abnormal muscle fiber morphology	6687	SPG7	ORPHA:99013
HP:0004303	Abnormal muscle fiber morphology	4568	MT-TL2	ORPHA:663
HP:0004303	Abnormal muscle fiber morphology	4570	MT-TN	ORPHA:663
HP:0004303	Abnormal muscle fiber morphology	4536	MT-ND2	ORPHA:255210
HP:0004303	Abnormal muscle fiber morphology	4537	MT-ND3	ORPHA:255210
HP:0004303	Abnormal muscle fiber morphology	4577	MT-TV	ORPHA:255210
HP:0004303	Abnormal muscle fiber morphology	4577	MT-TV	OMIM:540000
HP:0004303	Abnormal muscle fiber morphology	4508	MT-ATP6	ORPHA:255210
HP:0004303	Abnormal muscle fiber morphology	7084	TK2	ORPHA:254886
HP:0004303	Abnormal muscle fiber morphology	7084	TK2	OMIM:617069
HP:0004303	Abnormal muscle fiber morphology	7084	TK2	OMIM:609560
HP:0004303	Abnormal muscle fiber morphology	79587	CARS2	ORPHA:477774
HP:0004303	Abnormal muscle fiber morphology	54931	TRMT10C	OMIM:616974
HP:0004303	Abnormal muscle fiber morphology	617	BCS1L	OMIM:124000
HP:0004303	Abnormal muscle fiber morphology	4625	MYH7	OMIM:160500
HP:0004303	Abnormal muscle fiber morphology	29925	GMPPB	ORPHA:353327
HP:0004303	Abnormal muscle fiber morphology	1798	DPAGT1	ORPHA:353327
HP:0004303	Abnormal muscle fiber morphology	85365	ALG2	ORPHA:353327
HP:0004303	Abnormal muscle fiber morphology	85365	ALG2	OMIM:616228
HP:0004303	Abnormal muscle fiber morphology	199857	ALG14	ORPHA:353327
HP:0004303	Abnormal muscle fiber morphology	3980	LIG3	ORPHA:298
HP:0004303	Abnormal muscle fiber morphology	4519	MT-CYB	OMIM:540000
HP:0004303	Abnormal muscle fiber morphology	4511	MT-TC	OMIM:540000
HP:0004303	Abnormal muscle fiber morphology	1716	DGUOK	OMIM:617070
HP:0004303	Abnormal muscle fiber morphology	27235	COQ2	OMIM:607426
HP:0004303	Abnormal muscle fiber morphology	80224	NUBPL	OMIM:618242
HP:0004303	Abnormal muscle fiber morphology	4724	NDUFS4	OMIM:252010
HP:0004303	Abnormal muscle fiber morphology	6240	RRM1	OMIM:620647
HP:0004303	Abnormal muscle fiber morphology	4358	MPV17	OMIM:256810
HP:0004303	Abnormal muscle fiber morphology	84466	MEGF10	OMIM:620249
HP:0004303	Abnormal muscle fiber morphology	10939	AFG3L2	OMIM:610246
HP:0004303	Abnormal muscle fiber morphology	124454	EARS2	OMIM:614924
HP:0004303	Abnormal muscle fiber morphology	6389	SDHA	OMIM:252011
HP:0004303	Abnormal muscle fiber morphology	80324	PUS1	OMIM:600462
HP:0004303	Abnormal muscle fiber morphology	4556	MT-TE	ORPHA:254864
HP:0004303	Abnormal muscle fiber morphology	55687	TRMU	ORPHA:254864
HP:0004303	Abnormal muscle fiber morphology	4565	MT-TI	OMIM:545000
HP:0004303	Abnormal muscle fiber morphology	4509	MT-ATP8	ORPHA:480
HP:0004303	Abnormal muscle fiber morphology	8802	SUCLG1	ORPHA:17
HP:0004303	Abnormal muscle fiber morphology	115286	SLC25A26	OMIM:616794
HP:0004303	Abnormal muscle fiber morphology	51067	YARS2	OMIM:613561
HP:0004303	Abnormal muscle fiber morphology	125170	MIEF2	OMIM:619024
HP:0004303	Abnormal muscle fiber morphology	246243	RNASEH1	OMIM:616479
HP:0004303	Abnormal muscle fiber morphology	9131	AIFM1	OMIM:300816
HP:0004303	Abnormal muscle fiber morphology	79731	NARS2	OMIM:616239
HP:0004303	Abnormal muscle fiber morphology	284439	SLC25A42	OMIM:618416
HP:0004303	Abnormal muscle fiber morphology	81034	SLC25A32	OMIM:616839
HP:0004303	Abnormal muscle fiber morphology	79736	TEFM	OMIM:620451
HP:0004303	Abnormal muscle fiber morphology	7555	CNBP	OMIM:602668
HP:0004303	Abnormal muscle fiber morphology	23175	LPIN1	ORPHA:99845
HP:0004303	Abnormal muscle fiber morphology	54938	SARS2	OMIM:613845
HP:0004303	Abnormal muscle fiber morphology	57731	SPTBN4	OMIM:617519
HP:0004303	Abnormal muscle fiber morphology	58	ACTA1	ORPHA:97240
HP:0004303	Abnormal muscle fiber morphology	7273	TTN	OMIM:603689
HP:0004303	Abnormal muscle fiber morphology	7273	TTN	ORPHA:178464
HP:0004303	Abnormal muscle fiber morphology	1410	CRYAB	OMIM:608810
HP:0004303	Abnormal muscle fiber morphology	729359	PLIN4	OMIM:601846
HP:0004303	Abnormal muscle fiber morphology	2318	FLNC	ORPHA:171445
HP:0004303	Abnormal muscle fiber morphology	2318	FLNC	OMIM:609524
HP:0004303	Abnormal muscle fiber morphology	122622	ADSS1	OMIM:617030
HP:0004303	Abnormal muscle fiber morphology	5339	PLEC	OMIM:226670
HP:0004303	Abnormal muscle fiber morphology	825	CAPN3	OMIM:618129
HP:0004303	Abnormal muscle fiber morphology	8291	DYSF	OMIM:253601
HP:0004303	Abnormal muscle fiber morphology	6445	SGCG	OMIM:253700
HP:0004303	Abnormal muscle fiber morphology	4703	NEB	OMIM:256030
HP:0004303	Abnormal muscle fiber morphology	9499	MYOT	OMIM:609200
HP:0004303	Abnormal muscle fiber morphology	7148	TNXB	OMIM:606408
HP:0004303	Abnormal muscle fiber morphology	51776	MAP3K20	OMIM:617760
HP:0004303	Abnormal muscle fiber morphology	1140	CHRNB1	OMIM:616313
HP:0004303	Abnormal muscle fiber morphology	226	ALDOA	OMIM:611881
HP:0004303	Abnormal muscle fiber morphology	59341	TRPV4	OMIM:181405
HP:0004303	Abnormal muscle fiber morphology	11155	LDB3	OMIM:609452
HP:0004303	Abnormal muscle fiber morphology	57128	LYRM4	OMIM:615595
HP:0004303	Abnormal muscle fiber morphology	9927	MFN2	OMIM:151800
HP:0004303	Abnormal muscle fiber morphology	7138	TNNT1	OMIM:620386
HP:0004303	Abnormal muscle fiber morphology	2617	GARS1	OMIM:619042
HP:0004303	Abnormal muscle fiber morphology	10324	KLHL41	ORPHA:171436
HP:0004303	Abnormal muscle fiber morphology	10324	KLHL41	ORPHA:171439
HP:0004303	Abnormal muscle fiber morphology	56203	LMOD3	ORPHA:171436
HP:0004303	Abnormal muscle fiber morphology	91754	NEK9	OMIM:617022
HP:0004303	Abnormal muscle fiber morphology	3714	JAG2	OMIM:619566
HP:0004303	Abnormal muscle fiber morphology	10730	YME1L1	OMIM:617302
HP:0004303	Abnormal muscle fiber morphology	4976	OPA1	OMIM:125250
HP:0004303	Abnormal muscle fiber morphology	7125	TNNC2	OMIM:620161
HP:0004303	Abnormal muscle fiber morphology	1185	CLCN6	OMIM:619173
HP:0004303	Abnormal muscle fiber morphology	55154	MSTO1	OMIM:617675
HP:0004303	Abnormal muscle fiber morphology	55154	MSTO1	ORPHA:502423
HP:0004303	Abnormal muscle fiber morphology	191	AHCY	OMIM:613752
HP:0004303	Abnormal muscle fiber morphology	93627	TBCK	OMIM:616900
HP:0004303	Abnormal muscle fiber morphology	51008	ASCC1	OMIM:616867
HP:0004303	Abnormal muscle fiber morphology	2218	FKTN	OMIM:611615
HP:0004303	Abnormal muscle fiber morphology	8604	SLC25A12	OMIM:612949
HP:0004303	Abnormal muscle fiber morphology	4697	NDUFA4	OMIM:619065
HP:0004303	Abnormal muscle fiber morphology	9997	SCO2	OMIM:604377
HP:0004303	Abnormal muscle fiber morphology	79784	MYH14	ORPHA:397744
HP:0004303	Abnormal muscle fiber morphology	4285	MIPEP	OMIM:617228
HP:0004303	Abnormal muscle fiber morphology	1605	DAG1	OMIM:616538
HP:0004303	Abnormal muscle fiber morphology	51244	CCDC174	OMIM:616816
HP:0004303	Abnormal muscle fiber morphology	29954	POMT2	OMIM:613150
HP:0004303	Abnormal muscle fiber morphology	3798	KIF5A	OMIM:617235
HP:0004303	Abnormal muscle fiber morphology	339855	KY	OMIM:617114
HP:0004303	Abnormal muscle fiber morphology	5213	PFKM	OMIM:232800
HP:0004303	Abnormal muscle fiber morphology	390594	KBTBD13	ORPHA:171439
HP:0004303	Abnormal muscle fiber morphology	10229	COQ7	OMIM:620402
HP:0004303	Abnormal muscle fiber morphology	1487	CTBP1	OMIM:617915
HP:0004303	Abnormal muscle fiber morphology	23479	ISCU	OMIM:255125
HP:0004303	Abnormal muscle fiber morphology	1756	DMD	OMIM:302045
HP:0004303	Abnormal muscle fiber morphology	57505	AARS2	OMIM:614096
HP:0004303	Abnormal muscle fiber morphology	84842	HPDL	OMIM:619026
HP:0004303	Abnormal muscle fiber morphology	3679	ITGA7	OMIM:613204
HP:0004303	Abnormal muscle fiber morphology	132001	TAMM41	OMIM:620139
HP:0004303	Abnormal muscle fiber morphology	6443	SGCB	ORPHA:119
HP:0004303	Abnormal muscle fiber morphology	4534	MTM1	ORPHA:596
HP:0004303	Abnormal muscle fiber morphology	274	BIN1	ORPHA:169186
HP:0004303	Abnormal muscle fiber morphology	274	BIN1	ORPHA:169189
HP:0004303	Abnormal muscle fiber morphology	274	BIN1	OMIM:255200
HP:0004303	Abnormal muscle fiber morphology	10290	SPEG	ORPHA:169186
HP:0004303	Abnormal muscle fiber morphology	10290	SPEG	OMIM:615959
HP:0004303	Abnormal muscle fiber morphology	6261	RYR1	ORPHA:169186
HP:0004303	Abnormal muscle fiber morphology	6261	RYR1	ORPHA:169189
HP:0004303	Abnormal muscle fiber morphology	6261	RYR1	OMIM:117000
HP:0004303	Abnormal muscle fiber morphology	6261	RYR1	OMIM:255320
HP:0004303	Abnormal muscle fiber morphology	6261	RYR1	ORPHA:324581
HP:0004303	Abnormal muscle fiber morphology	6261	RYR1	OMIM:619542
HP:0004303	Abnormal muscle fiber morphology	64374	SIL1	OMIM:248800
HP:0004303	Abnormal muscle fiber morphology	9453	GGPS1	OMIM:619518
HP:0004303	Abnormal muscle fiber morphology	9782	MATR3	OMIM:606070
HP:0004303	Abnormal muscle fiber morphology	79912	PYROXD1	OMIM:617258
HP:0004303	Abnormal muscle fiber morphology	6606	SMN1	OMIM:271150
HP:0004303	Abnormal muscle fiber morphology	8087	FXR1	OMIM:618823
HP:0004303	Abnormal muscle fiber morphology	64419	MTMR14	ORPHA:169189
HP:0004303	Abnormal muscle fiber morphology	64419	MTMR14	OMIM:160150
HP:0004303	Abnormal muscle fiber morphology	4618	MYF6	ORPHA:169189
HP:0004303	Abnormal muscle fiber morphology	1785	DNM2	ORPHA:169189
HP:0004303	Abnormal muscle fiber morphology	1785	DNM2	OMIM:160150
HP:0004303	Abnormal muscle fiber morphology	1785	DNM2	OMIM:615368
HP:0004303	Abnormal muscle fiber morphology	54344	DPM3	OMIM:618992
HP:0004303	Abnormal muscle fiber morphology	9325	TRIP4	OMIM:617066
HP:0004303	Abnormal muscle fiber morphology	9325	TRIP4	ORPHA:486815
HP:0004303	Abnormal muscle fiber morphology	10585	POMT1	ORPHA:86812
HP:0004303	Abnormal muscle fiber morphology	11149	POPDC1	OMIM:616812
HP:0004303	Abnormal muscle fiber morphology	84033	OBSCN	OMIM:620235
HP:0004303	Abnormal muscle fiber morphology	6263	RYR3	OMIM:620310
HP:0004303	Abnormal muscle fiber morphology	57190	SELENON	OMIM:602771
HP:0004303	Abnormal muscle fiber morphology	26092	TOR1AIP1	OMIM:617072
HP:0004303	Abnormal muscle fiber morphology	23345	SYNE1	OMIM:618484
HP:0004303	Abnormal muscle fiber morphology	146862	UNC45B	OMIM:619178
HP:0004303	Abnormal muscle fiber morphology	182	JAG1	OMIM:619574
HP:0004303	Abnormal muscle fiber morphology	22954	TRIM32	OMIM:254110
HP:0004303	Abnormal muscle fiber morphology	311	ANXA11	OMIM:619733
HP:0004303	Abnormal muscle fiber morphology	57211	ADGRG6	OMIM:616503
HP:0004303	Abnormal muscle fiber morphology	1073	CFL2	OMIM:610687
HP:0004303	Abnormal muscle fiber morphology	844	CASQ1	ORPHA:2593
HP:0004303	Abnormal muscle fiber morphology	84876	ORAI1	ORPHA:2593
HP:0004303	Abnormal muscle fiber morphology	6786	STIM1	ORPHA:2593
HP:0004303	Abnormal muscle fiber morphology	4151	MB	OMIM:620286
HP:0004303	Abnormal muscle fiber morphology	124093	CCDC78	OMIM:614807
HP:0004303	Abnormal muscle fiber morphology	10367	MICU1	ORPHA:401768
HP:0004303	Abnormal muscle fiber morphology	23676	SMPX	OMIM:301075
HP:0004303	Abnormal muscle fiber morphology	3178	HNRNPA1	OMIM:615424
HP:0004303	Abnormal muscle fiber morphology	3181	HNRNPA2B1	OMIM:615422
HP:0004303	Abnormal muscle fiber morphology	284119	CAVIN1	OMIM:613327
HP:0004303	Abnormal muscle fiber morphology	90523	MLIP	OMIM:620138
HP:0004303	Abnormal muscle fiber morphology	23224	SYNE2	OMIM:612999
HP:0004303	Abnormal muscle fiber morphology	23534	TNPO3	OMIM:608423
HP:0004303	Abnormal muscle fiber morphology	3156	HMGCR	OMIM:620375
HP:0004303	Abnormal muscle fiber morphology	5255	PHKA1	OMIM:300559
HP:0004303	Abnormal muscle fiber morphology	64208	POPDC3	OMIM:618848
HP:0004303	Abnormal muscle fiber morphology	8449	DHX16	OMIM:618733
HP:0004303	Abnormal muscle fiber morphology	203547	VMA21	OMIM:310440
HP:0004303	Abnormal muscle fiber morphology	6442	SGCA	OMIM:608099
HP:0004303	Abnormal muscle fiber morphology	353116	RILPL1	OMIM:619790
HP:0004303	Abnormal muscle fiber morphology	88	ACTN2	OMIM:618655
HP:0004303	Abnormal muscle fiber morphology	29967	LRP12	OMIM:164310
HP:0004303	Abnormal muscle fiber morphology	4633	MYL2	OMIM:619424
HP:0004303	Abnormal muscle fiber morphology	10020	GNE	OMIM:605820
HP:0004303	Abnormal muscle fiber morphology	5663	PSEN1	ORPHA:1020
HP:0004303	Abnormal muscle fiber morphology	5664	PSEN2	ORPHA:1020
HP:0004303	Abnormal muscle fiber morphology	10452	TOMM40	ORPHA:1020
HP:0004303	Abnormal muscle fiber morphology	351	APP	ORPHA:1020
HP:0004303	Abnormal muscle fiber morphology	54209	TREM2	ORPHA:1020
HP:0004303	Abnormal muscle fiber morphology	10347	ABCA7	ORPHA:1020
HP:0004303	Abnormal muscle fiber morphology	6653	SORL1	ORPHA:1020
HP:0004303	Abnormal muscle fiber morphology	4709	NDUFB3	OMIM:618246
HP:0004303	Abnormal muscle fiber morphology	84700	MYO18B	OMIM:616549
HP:0004303	Abnormal muscle fiber morphology	4747	NEFL	OMIM:607684
HP:0004303	Abnormal muscle fiber morphology	1353	COX11	OMIM:620275
HP:0004303	Abnormal muscle fiber morphology	131377	KLHL40	ORPHA:171430
HP:0004303	Abnormal muscle fiber morphology	23287	AGTPBP1	OMIM:618276
HP:0004303	Abnormal muscle fiber morphology	8292	COLQ	ORPHA:98915
HP:0004303	Abnormal muscle fiber morphology	8292	COLQ	OMIM:603034
HP:0004303	Abnormal muscle fiber morphology	3913	LAMB2	ORPHA:98915
HP:0004303	Abnormal muscle fiber morphology	55033	FKBP14	OMIM:614557
HP:0004303	Abnormal muscle fiber morphology	1134	CHRNA1	ORPHA:98913
HP:0004303	Abnormal muscle fiber morphology	4038	LRP4	ORPHA:98913
HP:0004303	Abnormal muscle fiber morphology	4038	LRP4	OMIM:616304
HP:0004303	Abnormal muscle fiber morphology	1144	CHRND	ORPHA:98913
HP:0004303	Abnormal muscle fiber morphology	1145	CHRNE	ORPHA:98913
HP:0004303	Abnormal muscle fiber morphology	4593	MUSK	ORPHA:98913
HP:0004303	Abnormal muscle fiber morphology	5913	RAPSN	ORPHA:98913
HP:0004303	Abnormal muscle fiber morphology	221264	AK9	ORPHA:98913
HP:0004303	Abnormal muscle fiber morphology	285489	DOK7	ORPHA:98913
HP:0004303	Abnormal muscle fiber morphology	87178	PNPT1	ORPHA:319514
HP:0004303	Abnormal muscle fiber morphology	3736	KCNA1	ORPHA:972
HP:0004303	Abnormal muscle fiber morphology	7072	TIA1	OMIM:604454
HP:0004303	Abnormal muscle fiber morphology	7072	TIA1	ORPHA:603
HP:0004303	Abnormal muscle fiber morphology	10755	GIPC1	OMIM:618940
HP:0004303	Abnormal muscle fiber morphology	100996717	NOTCH2NLC	OMIM:619473
HP:0004303	Abnormal muscle fiber morphology	7415	VCP	OMIM:167320
HP:0004303	Abnormal muscle fiber morphology	7415	VCP	ORPHA:52430
HP:0004303	Abnormal muscle fiber morphology	7415	VCP	ORPHA:329478
HP:0004303	Abnormal muscle fiber morphology	57104	PNPLA2	ORPHA:565612
HP:0004303	Abnormal muscle fiber morphology	57104	PNPLA2	ORPHA:98908
HP:0004303	Abnormal muscle fiber morphology	2273	FHL1	OMIM:300718
HP:0004303	Abnormal muscle fiber morphology	2273	FHL1	OMIM:300696
HP:0004303	Abnormal muscle fiber morphology	2273	FHL1	ORPHA:98863
HP:0004303	Abnormal muscle fiber morphology	8878	SQSTM1	OMIM:617158
HP:0004303	Abnormal muscle fiber morphology	8878	SQSTM1	ORPHA:603
HP:0004303	Abnormal muscle fiber morphology	2010	EMD	ORPHA:98863
HP:0004303	Abnormal muscle fiber morphology	8557	TCAP	OMIM:601954
HP:0004303	Abnormal muscle fiber morphology	4000	LMNA	ORPHA:98855
HP:0004303	Abnormal muscle fiber morphology	4000	LMNA	ORPHA:98853
HP:0004303	Abnormal muscle fiber morphology	1674	DES	OMIM:181400
HP:0004303	Abnormal muscle fiber morphology	9987	HNRNPDL	OMIM:609115
HP:0004303	Abnormal muscle fiber morphology	79188	TMEM43	ORPHA:98853
HP:0004303	Abnormal muscle fiber morphology	10049	DNAJB6	ORPHA:34516
HP:0004303	Abnormal muscle fiber morphology	6329	SCN4A	ORPHA:681
HP:0004303	Abnormal muscle fiber morphology	779	CACNA1S	ORPHA:681
HP:0004303	Abnormal muscle fiber morphology	779	CACNA1S	ORPHA:79102
HP:0004303	Abnormal muscle fiber morphology	10008	KCNE3	ORPHA:681
HP:0004303	Abnormal muscle fiber morphology	8106	PABPN1	ORPHA:270
HP:0004303	Abnormal muscle fiber morphology	84665	MYPN	ORPHA:171881
HP:0004303	Abnormal muscle fiber morphology	7169	TPM2	ORPHA:171881
HP:0004303	Abnormal muscle fiber morphology	7170	TPM3	ORPHA:171881
HP:0004303	Abnormal muscle fiber morphology	2737	GLI3	OMIM:175700
HP:0004303	Abnormal muscle fiber morphology	859	CAV3	OMIM:123320
HP:0004303	Abnormal muscle fiber morphology	7317	UBA1	ORPHA:1145
HP:0004303	Abnormal muscle fiber morphology	10073	SNUPN	OMIM:620793
HP:0004303	Abnormal muscle fiber morphology	100134444	KCNJ18	ORPHA:79102
HP:0004303	Abnormal muscle fiber morphology	2556	GABRA3	ORPHA:79102
HP:0004303	Abnormal muscle fiber morphology	203859	ANO5	ORPHA:206549
HP:0004303	Abnormal muscle fiber morphology	1303	COL12A1	ORPHA:75840
HP:0004303	Abnormal muscle fiber morphology	1291	COL6A1	ORPHA:75840
HP:0004303	Abnormal muscle fiber morphology	1292	COL6A2	ORPHA:75840
HP:0004303	Abnormal muscle fiber morphology	1293	COL6A3	ORPHA:75840
HP:0004303	Abnormal muscle fiber morphology	26235	FBXL4	OMIM:615471
HP:0004303	Abnormal muscle fiber morphology	84274	COQ5	OMIM:619028
HP:0004303	Abnormal muscle fiber morphology	5442	POLRMT	OMIM:619743
HP:0004303	Abnormal muscle fiber morphology	1778	DYNC1H1	OMIM:158600
HP:0004303	Abnormal muscle fiber morphology	3190	HNRNPK	ORPHA:453504
HP:0004303	Abnormal muscle fiber morphology	3190	HNRNPK	ORPHA:352665
HP:0004303	Abnormal muscle fiber morphology	9200	HACD1	ORPHA:2020
HP:0004303	Abnormal muscle fiber morphology	5468	PPARG	ORPHA:79083
HP:0004303	Abnormal muscle fiber morphology	246329	STAC3	ORPHA:168572
HP:0004303	Abnormal muscle fiber morphology	3920	LAMP2	OMIM:300257
HP:0004303	Abnormal muscle fiber morphology	84197	POMK	ORPHA:370959
HP:0004303	Abnormal muscle fiber morphology	729920	CRPPA	OMIM:616052
HP:0004303	Abnormal muscle fiber morphology	729920	CRPPA	ORPHA:352479
HP:0004303	Abnormal muscle fiber morphology	9570	GOSR2	OMIM:620166
HP:0004303	Abnormal muscle fiber morphology	2671	GFER	ORPHA:330054
HP:0004303	Abnormal muscle fiber morphology	79147	FKRP	ORPHA:34515
HP:0004303	Abnormal muscle fiber morphology	442721	LMOD2	OMIM:619897
HP:0004303	Abnormal muscle fiber morphology	11117	EMILIN1	OMIM:620080
HP:0004303	Abnormal muscle fiber morphology	8884	SLC5A6	OMIM:619903
HP:0004303	Abnormal muscle fiber morphology	65055	REEP1	OMIM:620011
HP:0004303	Abnormal muscle fiber morphology	55791	LRIF1	OMIM:619477
HP:0004303	Abnormal muscle fiber morphology	10558	SPTLC1	OMIM:620285
HP:0004303	Abnormal muscle fiber morphology	54332	GDAP1	OMIM:608340
HP:0004303	Abnormal muscle fiber morphology	64135	IFIH1	OMIM:182250
HP:0004303	Abnormal muscle fiber morphology	2521	FUS	ORPHA:300605
HP:0004303	Abnormal muscle fiber morphology	80208	SPG11	ORPHA:300605
HP:0004303	Abnormal muscle fiber morphology	10280	SIGMAR1	ORPHA:300605
HP:0004303	Abnormal muscle fiber morphology	57679	ALS2	ORPHA:300605
HP:0004303	Abnormal muscle fiber morphology	60684	TRAPPC11	ORPHA:369840
HP:0004303	Abnormal muscle fiber morphology	3074	HEXB	ORPHA:309169
HP:0004303	Abnormal muscle fiber morphology	23230	VPS13A	ORPHA:2388
HP:0004303	Abnormal muscle fiber morphology	60482	SLC5A7	ORPHA:98914
HP:0004303	Abnormal muscle fiber morphology	4649	MYO9A	ORPHA:98914
HP:0004303	Abnormal muscle fiber morphology	1305	COL13A1	ORPHA:98914
HP:0004303	Abnormal muscle fiber morphology	1103	CHAT	ORPHA:98914
HP:0004303	Abnormal muscle fiber morphology	6576	SLC25A1	ORPHA:98914
HP:0004303	Abnormal muscle fiber morphology	6843	VAMP1	ORPHA:98914
HP:0004303	Abnormal muscle fiber morphology	375790	AGRN	ORPHA:98914
HP:0004303	Abnormal muscle fiber morphology	127833	SYT2	ORPHA:98914
HP:0004303	Abnormal muscle fiber morphology	6572	SLC18A3	ORPHA:98914
HP:0004303	Abnormal muscle fiber morphology	6616	SNAP25	ORPHA:98914
HP:0004303	Abnormal muscle fiber morphology	1376	CPT2	ORPHA:228302
HP:0004303	Abnormal muscle fiber morphology	5351	PLOD1	ORPHA:1900
HP:0004303	Abnormal muscle fiber morphology	3908	LAMA2	ORPHA:258
HP:0004303	Abnormal muscle fiber morphology	2801	GOLGA2	OMIM:620240
HP:0004303	Abnormal muscle fiber morphology	9215	LARGE1	OMIM:613154
HP:0004303	Abnormal muscle fiber morphology	55624	POMGNT1	OMIM:613157
HP:0004303	Abnormal muscle fiber morphology	7443	VRK1	OMIM:620542
HP:0004303	Abnormal muscle fiber morphology	9990	SLC12A6	OMIM:620068
HP:0004303	Abnormal muscle fiber morphology	1120	CHKB	OMIM:602541
HP:0004303	Abnormal muscle fiber morphology	4632	MYL1	OMIM:618414
HP:0004303	Abnormal muscle fiber morphology	4620	MYH2	OMIM:605637
HP:0004303	Abnormal muscle fiber morphology	2992	GYG1	OMIM:616199
HP:0004302	Functional motor deficit	291	SLC25A4	ORPHA:254892
HP:0004302	Functional motor deficit	5428	POLG	ORPHA:254892
HP:0004302	Functional motor deficit	5428	POLG	OMIM:607459
HP:0004302	Functional motor deficit	56652	TWNK	ORPHA:254892
HP:0004302	Functional motor deficit	56652	TWNK	OMIM:607459
HP:0004302	Functional motor deficit	11232	POLG2	ORPHA:254892
HP:0004302	Functional motor deficit	50484	RRM2B	ORPHA:254892
HP:0004302	Functional motor deficit	10749	KIF1C	ORPHA:397946
HP:0004302	Functional motor deficit	10749	KIF1C	OMIM:611302
HP:0004302	Functional motor deficit	51062	ATL1	ORPHA:100984
HP:0004302	Functional motor deficit	773	CACNA1A	OMIM:183086
HP:0004302	Functional motor deficit	6134	RPL10	OMIM:300998
HP:0004302	Functional motor deficit	7080	NKX2-1	OMIM:118700
HP:0004302	Functional motor deficit	3094	HINT1	ORPHA:324442
HP:0004302	Functional motor deficit	27247	NFU1	OMIM:620938
HP:0004302	Functional motor deficit	79912	PYROXD1	OMIM:617258
HP:0004302	Functional motor deficit	4747	NEFL	OMIM:607684
HP:0004302	Functional motor deficit	4703	NEB	OMIM:256030
HP:0004302	Functional motor deficit	10159	ATP6AP2	ORPHA:93952
HP:0004302	Functional motor deficit	22947	DUX4L1	ORPHA:269
HP:0004302	Functional motor deficit	1789	DNMT3B	ORPHA:269
HP:0004302	Functional motor deficit	2483	FRG1	ORPHA:269
HP:0004302	Functional motor deficit	23347	SMCHD1	ORPHA:269
HP:0004302	Functional motor deficit	100288687	DUX4	ORPHA:269
HP:0004302	Functional motor deficit	1303	COL12A1	ORPHA:75840
HP:0004302	Functional motor deficit	1291	COL6A1	ORPHA:75840
HP:0004302	Functional motor deficit	1292	COL6A2	ORPHA:75840
HP:0004302	Functional motor deficit	1293	COL6A3	ORPHA:75840
HP:0004302	Functional motor deficit	4000	LMNA	OMIM:181350
HP:0004302	Functional motor deficit	5339	PLEC	ORPHA:254361
HP:0004302	Functional motor deficit	10397	NDRG1	OMIM:601455
HP:0004302	Functional motor deficit	55187	VPS13D	OMIM:607317
HP:0004302	Functional motor deficit	6576	SLC25A1	OMIM:618197
HP:0004302	Functional motor deficit	318	NUDT2	OMIM:619844
HP:0004302	Functional motor deficit	6263	RYR3	OMIM:620310
HP:0004302	Functional motor deficit	5189	PEX1	OMIM:214100
HP:0004302	Functional motor deficit	79147	FKRP	OMIM:607155
HP:0004302	Functional motor deficit	79147	FKRP	OMIM:606612
HP:0004302	Functional motor deficit	79147	FKRP	ORPHA:34515
HP:0004302	Functional motor deficit	79147	FKRP	ORPHA:370980
HP:0004302	Functional motor deficit	29925	GMPPB	ORPHA:353327
HP:0004302	Functional motor deficit	2673	GFPT1	ORPHA:353327
HP:0004302	Functional motor deficit	1798	DPAGT1	ORPHA:353327
HP:0004302	Functional motor deficit	85365	ALG2	ORPHA:353327
HP:0004302	Functional motor deficit	199857	ALG14	ORPHA:353327
HP:0004302	Functional motor deficit	199857	ALG14	OMIM:616227
HP:0004302	Functional motor deficit	410	ARSA	ORPHA:309271
HP:0004302	Functional motor deficit	410	ARSA	ORPHA:309263
HP:0004302	Functional motor deficit	410	ARSA	ORPHA:309256
HP:0004302	Functional motor deficit	4694	NDUFA1	OMIM:301020
HP:0004302	Functional motor deficit	116228	COX20	OMIM:619054
HP:0004302	Functional motor deficit	84665	MYPN	ORPHA:171881
HP:0004302	Functional motor deficit	7169	TPM2	ORPHA:171881
HP:0004302	Functional motor deficit	7170	TPM3	ORPHA:171881
HP:0004302	Functional motor deficit	267010	RNU12	OMIM:620208
HP:0004302	Functional motor deficit	267010	RNU12	ORPHA:512260
HP:0004302	Functional motor deficit	64856	VWA1	OMIM:619216
HP:0004302	Functional motor deficit	54834	GDAP2	OMIM:618369
HP:0004302	Functional motor deficit	54463	RETREG1	OMIM:613115
HP:0004302	Functional motor deficit	2629	GBA1	ORPHA:411602
HP:0004302	Functional motor deficit	23317	DNAJC13	ORPHA:411602
HP:0004302	Functional motor deficit	1981	EIF4G1	ORPHA:411602
HP:0004302	Functional motor deficit	55737	VPS35	ORPHA:411602
HP:0004302	Functional motor deficit	120892	LRRK2	ORPHA:411602
HP:0004302	Functional motor deficit	26058	GIGYF2	ORPHA:411602
HP:0004302	Functional motor deficit	6622	SNCA	ORPHA:411602
HP:0004302	Functional motor deficit	9570	GOSR2	OMIM:620166
HP:0004302	Functional motor deficit	54332	GDAP1	ORPHA:101097
HP:0004302	Functional motor deficit	54332	GDAP1	ORPHA:99948
HP:0004302	Functional motor deficit	4361	MRE11	OMIM:604391
HP:0004302	Functional motor deficit	4361	MRE11	ORPHA:251347
HP:0004302	Functional motor deficit	55149	MTPAP	ORPHA:254343
HP:0004302	Functional motor deficit	5297	PI4KA	OMIM:619621
HP:0004302	Functional motor deficit	55703	POLR3B	OMIM:619742
HP:0004302	Functional motor deficit	2705	GJB1	OMIM:302800
HP:0004302	Functional motor deficit	2705	GJB1	ORPHA:1175
HP:0004302	Functional motor deficit	1600	DAB1	OMIM:615945
HP:0004302	Functional motor deficit	2218	FKTN	OMIM:611588
HP:0004302	Functional motor deficit	2218	FKTN	ORPHA:370980
HP:0004302	Functional motor deficit	2903	GRIN2A	ORPHA:98818
HP:0004302	Functional motor deficit	284439	SLC25A42	OMIM:618416
HP:0004302	Functional motor deficit	4137	MAPT	ORPHA:240103
HP:0004302	Functional motor deficit	729920	CRPPA	ORPHA:370980
HP:0004302	Functional motor deficit	10585	POMT1	ORPHA:370980
HP:0004302	Functional motor deficit	81790	RNF170	OMIM:608984
HP:0004302	Functional motor deficit	9896	FIG4	OMIM:611228
HP:0004302	Functional motor deficit	27235	COQ2	ORPHA:98933
HP:0004302	Functional motor deficit	27235	COQ2	ORPHA:227510
HP:0004302	Functional motor deficit	492	ATP2B3	ORPHA:314978
HP:0004302	Functional motor deficit	6697	SPR	OMIM:612716
HP:0004302	Functional motor deficit	5376	PMP22	ORPHA:3115
HP:0004302	Functional motor deficit	4359	MPZ	ORPHA:3115
HP:0004302	Functional motor deficit	6445	SGCG	ORPHA:353
HP:0004302	Functional motor deficit	9997	SCO2	OMIM:604377
HP:0004302	Functional motor deficit	9997	SCO2	ORPHA:521411
HP:0004302	Functional motor deficit	7273	TTN	OMIM:603689
HP:0004302	Functional motor deficit	56006	SMG9	OMIM:619995
HP:0004302	Functional motor deficit	10367	MICU1	OMIM:615673
HP:0004302	Functional motor deficit	10846	PDE10A	ORPHA:494526
HP:0004302	Functional motor deficit	10846	PDE10A	OMIM:616921
HP:0004302	Functional motor deficit	26580	BSCL2	OMIM:619112
HP:0004302	Functional motor deficit	7415	VCP	ORPHA:435387
HP:0004302	Functional motor deficit	7415	VCP	ORPHA:329478
HP:0004302	Functional motor deficit	55280	CWF19L1	OMIM:616127
HP:0004302	Functional motor deficit	55280	CWF19L1	ORPHA:453521
HP:0004302	Functional motor deficit	4744	NEFH	OMIM:616924
HP:0004302	Functional motor deficit	1778	DYNC1H1	OMIM:614228
HP:0004302	Functional motor deficit	3032	HADHB	ORPHA:746
HP:0004302	Functional motor deficit	3030	HADHA	ORPHA:746
HP:0004302	Functional motor deficit	6442	SGCA	ORPHA:62
HP:0004302	Functional motor deficit	9990	SLC12A6	OMIM:620068
HP:0004302	Functional motor deficit	58	ACTA1	OMIM:161800
HP:0004302	Functional motor deficit	6872	TAF1	ORPHA:53351
HP:0004302	Functional motor deficit	5375	PMP2	OMIM:618279
HP:0004302	Functional motor deficit	5621	PRNP	ORPHA:157941
HP:0004302	Functional motor deficit	2273	FHL1	OMIM:300718
HP:0004302	Functional motor deficit	79152	FA2H	ORPHA:171629
HP:0004302	Functional motor deficit	10243	GPHN	OMIM:149400
HP:0004302	Functional motor deficit	2741	GLRA1	OMIM:149400
HP:0004302	Functional motor deficit	9409	PEX16	OMIM:614877
HP:0004302	Functional motor deficit	8292	COLQ	ORPHA:98915
HP:0004302	Functional motor deficit	3913	LAMB2	ORPHA:98915
HP:0004302	Functional motor deficit	111	ADCY5	OMIM:619647
HP:0004302	Functional motor deficit	11261	CHP1	OMIM:618438
HP:0004302	Functional motor deficit	6329	SCN4A	OMIM:620351
HP:0004302	Functional motor deficit	6329	SCN4A	OMIM:620369
HP:0004302	Functional motor deficit	10558	SPTLC1	OMIM:162400
HP:0004302	Functional motor deficit	4508	MT-ATP6	ORPHA:225154
HP:0004302	Functional motor deficit	23636	NUP62	ORPHA:225154
HP:0004302	Functional motor deficit	53371	NUP54	ORPHA:225154
HP:0004302	Functional motor deficit	103	ADAR	ORPHA:225154
HP:0004302	Functional motor deficit	80025	PANK2	ORPHA:216873
HP:0004302	Functional motor deficit	80025	PANK2	ORPHA:216866
HP:0004302	Functional motor deficit	84823	LMNB2	OMIM:616540
HP:0004302	Functional motor deficit	6709	SPTAN1	OMIM:620528
HP:0004302	Functional motor deficit	6389	SDHA	ORPHA:3208
HP:0004302	Functional motor deficit	6390	SDHB	ORPHA:3208
HP:0004302	Functional motor deficit	6392	SDHD	ORPHA:3208
HP:0004302	Functional motor deficit	644096	SDHAF1	ORPHA:3208
HP:0004302	Functional motor deficit	383	ARG1	OMIM:207800
HP:0004302	Functional motor deficit	23533	PIK3R5	OMIM:615217
HP:0004302	Functional motor deficit	1073	CFL2	OMIM:610687
HP:0004302	Functional motor deficit	122622	ADSS1	ORPHA:482601
HP:0004302	Functional motor deficit	2055	CLN8	ORPHA:1947
HP:0004302	Functional motor deficit	4556	MT-TE	ORPHA:2596
HP:0004302	Functional motor deficit	57410	SCYL1	ORPHA:466794
HP:0004302	Functional motor deficit	57410	SCYL1	OMIM:616719
HP:0004302	Functional motor deficit	23479	ISCU	OMIM:255125
HP:0004302	Functional motor deficit	124093	CCDC78	OMIM:614807
HP:0004302	Functional motor deficit	9181	ARHGEF2	OMIM:617523
HP:0004302	Functional motor deficit	2583	B4GALNT1	OMIM:609195
HP:0004302	Functional motor deficit	8996	NOL3	OMIM:614937
HP:0004302	Functional motor deficit	9927	MFN2	ORPHA:99947
HP:0004302	Functional motor deficit	4976	OPA1	OMIM:210000
HP:0004302	Functional motor deficit	65055	REEP1	OMIM:620011
HP:0004302	Functional motor deficit	6786	STIM1	OMIM:160565
HP:0004302	Functional motor deficit	54808	DYM	ORPHA:239
HP:0004302	Functional motor deficit	6261	RYR1	ORPHA:597
HP:0004302	Functional motor deficit	6261	RYR1	ORPHA:424107
HP:0004302	Functional motor deficit	5888	RAD51	ORPHA:238722
HP:0004302	Functional motor deficit	10126	DNAL4	ORPHA:238722
HP:0004302	Functional motor deficit	9423	NTN1	ORPHA:238722
HP:0004302	Functional motor deficit	1630	DCC	ORPHA:238722
HP:0004302	Functional motor deficit	3939	LDHA	ORPHA:284426
HP:0004302	Functional motor deficit	1145	CHRNE	OMIM:608931
HP:0004302	Functional motor deficit	1145	CHRNE	OMIM:616324
HP:0004302	Functional motor deficit	1145	CHRNE	ORPHA:98913
HP:0004302	Functional motor deficit	1145	CHRNE	OMIM:605809
HP:0004302	Functional motor deficit	127833	SYT2	OMIM:616040
HP:0004302	Functional motor deficit	127833	SYT2	ORPHA:98914
HP:0004302	Functional motor deficit	127833	SYT2	OMIM:619461
HP:0004302	Functional motor deficit	1144	CHRND	OMIM:616322
HP:0004302	Functional motor deficit	1144	CHRND	OMIM:616321
HP:0004302	Functional motor deficit	1144	CHRND	ORPHA:98913
HP:0004302	Functional motor deficit	6834	SURF1	OMIM:616684
HP:0004302	Functional motor deficit	5913	RAPSN	OMIM:616326
HP:0004302	Functional motor deficit	5913	RAPSN	ORPHA:98913
HP:0004302	Functional motor deficit	8988	HSPB3	OMIM:613376
HP:0004302	Functional motor deficit	4593	MUSK	OMIM:616325
HP:0004302	Functional motor deficit	4593	MUSK	ORPHA:98913
HP:0004302	Functional motor deficit	811	CALR	ORPHA:824
HP:0004302	Functional motor deficit	4352	MPL	ORPHA:824
HP:0004302	Functional motor deficit	3717	JAK2	ORPHA:824
HP:0004302	Functional motor deficit	54790	TET2	ORPHA:824
HP:0004302	Functional motor deficit	1134	CHRNA1	OMIM:608930
HP:0004302	Functional motor deficit	1134	CHRNA1	ORPHA:98913
HP:0004302	Functional motor deficit	92667	MGME1	ORPHA:352447
HP:0004302	Functional motor deficit	92667	MGME1	OMIM:615084
HP:0004302	Functional motor deficit	3190	HNRNPK	ORPHA:453504
HP:0004302	Functional motor deficit	3190	HNRNPK	ORPHA:352665
HP:0004302	Functional motor deficit	64419	MTMR14	OMIM:160150
HP:0004302	Functional motor deficit	1785	DNM2	OMIM:160150
HP:0004302	Functional motor deficit	375790	AGRN	OMIM:615120
HP:0004302	Functional motor deficit	375790	AGRN	ORPHA:98914
HP:0004302	Functional motor deficit	375790	AGRN	ORPHA:98913
HP:0004302	Functional motor deficit	8838	CCN6	ORPHA:1159
HP:0004302	Functional motor deficit	4780	NFE2L2	OMIM:617744
HP:0004302	Functional motor deficit	4221	MEN1	ORPHA:2965
HP:0004302	Functional motor deficit	64072	CDH23	ORPHA:2965
HP:0004302	Functional motor deficit	64072	CDH23	ORPHA:91347
HP:0004302	Functional motor deficit	9049	AIP	ORPHA:2965
HP:0004302	Functional motor deficit	60482	SLC5A7	ORPHA:98914
HP:0004302	Functional motor deficit	4649	MYO9A	ORPHA:98914
HP:0004302	Functional motor deficit	1305	COL13A1	ORPHA:98914
HP:0004302	Functional motor deficit	1305	COL13A1	ORPHA:98913
HP:0004302	Functional motor deficit	1103	CHAT	ORPHA:98914
HP:0004302	Functional motor deficit	6843	VAMP1	ORPHA:98914
HP:0004302	Functional motor deficit	6572	SLC18A3	ORPHA:98914
HP:0004302	Functional motor deficit	6572	SLC18A3	OMIM:617239
HP:0004302	Functional motor deficit	6616	SNAP25	ORPHA:98914
HP:0004302	Functional motor deficit	5573	PRKAR1A	ORPHA:615
HP:0004302	Functional motor deficit	4038	LRP4	ORPHA:98913
HP:0004302	Functional motor deficit	1140	CHRNB1	ORPHA:98913
HP:0004302	Functional motor deficit	1140	CHRNB1	OMIM:616313
HP:0004302	Functional motor deficit	221264	AK9	ORPHA:98913
HP:0004302	Functional motor deficit	285489	DOK7	ORPHA:98913
HP:0004302	Functional motor deficit	285489	DOK7	OMIM:254300
HP:0004302	Functional motor deficit	7234	TRU-TCA1-1	OMIM:620198
HP:0004302	Functional motor deficit	57104	PNPLA2	OMIM:610717
HP:0004302	Functional motor deficit	57104	PNPLA2	ORPHA:98908
HP:0004302	Functional motor deficit	1890	TYMP	ORPHA:298
HP:0004302	Functional motor deficit	3980	LIG3	ORPHA:298
HP:0004302	Functional motor deficit	50515	CHST11	OMIM:618167
HP:0004302	Functional motor deficit	55033	FKBP14	ORPHA:300179
HP:0004302	Functional motor deficit	79572	ATP13A3	OMIM:265400
HP:0004302	Functional motor deficit	7040	TGFB1	OMIM:131300
HP:0004302	Functional motor deficit	5213	PFKM	OMIM:232800
HP:0004302	Functional motor deficit	51567	TDP2	OMIM:616949
HP:0004302	Functional motor deficit	55750	AGK	OMIM:212350
HP:0004302	Functional motor deficit	55863	TMEM126B	OMIM:618250
HP:0004302	Functional motor deficit	57190	SELENON	ORPHA:2020
HP:0004302	Functional motor deficit	4633	MYL2	ORPHA:2020
HP:0004302	Functional motor deficit	3679	ITGA7	ORPHA:2020
HP:0004302	Functional motor deficit	9200	HACD1	ORPHA:2020
HP:0004302	Functional motor deficit	51776	MAP3K20	ORPHA:2020
HP:0004302	Functional motor deficit	51776	MAP3K20	OMIM:617760
HP:0004302	Functional motor deficit	844	CASQ1	OMIM:616231
HP:0004302	Functional motor deficit	79731	NARS2	OMIM:616239
HP:0004302	Functional motor deficit	9531	BAG3	OMIM:612954
HP:0004302	Functional motor deficit	84705	GTPBP3	ORPHA:444013
HP:0004302	Functional motor deficit	274	BIN1	ORPHA:169186
HP:0004302	Functional motor deficit	10290	SPEG	ORPHA:169186
HP:0004302	Functional motor deficit	55791	LRIF1	OMIM:619477
HP:0004302	Functional motor deficit	1763	DNA2	OMIM:615156
HP:0004302	Functional motor deficit	246243	RNASEH1	ORPHA:329336
HP:0004302	Functional motor deficit	2548	GAA	OMIM:232300
HP:0004302	Functional motor deficit	8291	DYSF	OMIM:254130
HP:0004302	Functional motor deficit	8291	DYSF	OMIM:253601
HP:0004302	Functional motor deficit	8291	DYSF	ORPHA:268
HP:0004302	Functional motor deficit	8291	DYSF	ORPHA:45448
HP:0004302	Functional motor deficit	1756	DMD	OMIM:310200
HP:0004302	Functional motor deficit	1756	DMD	ORPHA:98895
HP:0004302	Functional motor deficit	203547	VMA21	OMIM:310440
HP:0004302	Functional motor deficit	7138	TNNT1	OMIM:620389
HP:0004302	Functional motor deficit	7138	TNNT1	OMIM:620386
HP:0004302	Functional motor deficit	1605	DAG1	OMIM:613818
HP:0004302	Functional motor deficit	1605	DAG1	ORPHA:280333
HP:0004302	Functional motor deficit	10049	DNAJB6	OMIM:603511
HP:0004302	Functional motor deficit	10049	DNAJB6	ORPHA:34516
HP:0004302	Functional motor deficit	9499	MYOT	ORPHA:266
HP:0004302	Functional motor deficit	825	CAPN3	ORPHA:267
HP:0004302	Functional motor deficit	84197	POMK	OMIM:616094
HP:0004302	Functional motor deficit	10073	SNUPN	OMIM:620793
HP:0004302	Functional motor deficit	284403	WDR62	OMIM:604317
HP:0004302	Functional motor deficit	6444	SGCD	OMIM:601287
HP:0004302	Functional motor deficit	26092	TOR1AIP1	OMIM:617072
HP:0004302	Functional motor deficit	10342	TFG	ORPHA:431329
HP:0004302	Functional motor deficit	2318	FLNC	ORPHA:171445
HP:0004302	Functional motor deficit	2318	FLNC	OMIM:609524
HP:0004302	Functional motor deficit	55624	POMGNT1	OMIM:613157
HP:0004302	Functional motor deficit	84466	MEGF10	OMIM:620249
HP:0004302	Functional motor deficit	4625	MYH7	OMIM:608358
HP:0004302	Functional motor deficit	203859	ANO5	OMIM:613319
HP:0004302	Functional motor deficit	29954	POMT2	ORPHA:206559
HP:0004302	Functional motor deficit	9217	VAPB	ORPHA:209335
HP:0004302	Functional motor deficit	8557	TCAP	OMIM:601954
HP:0004302	Functional motor deficit	3991	LIPE	OMIM:615980
HP:0004302	Functional motor deficit	125170	MIEF2	OMIM:619024
HP:0004302	Functional motor deficit	390594	KBTBD13	OMIM:609273
HP:0004302	Functional motor deficit	57449	PLEKHG5	OMIM:611067
HP:0004302	Functional motor deficit	3908	LAMA2	OMIM:618138
HP:0004302	Functional motor deficit	23534	TNPO3	OMIM:608423
HP:0004302	Functional motor deficit	29967	LRP12	OMIM:620452
HP:0004302	Functional motor deficit	5255	PHKA1	ORPHA:715
HP:0004302	Functional motor deficit	5260	PHKG1	ORPHA:715
HP:0004302	Functional motor deficit	6611	SMS	ORPHA:3063
HP:0004302	Functional motor deficit	7084	TK2	ORPHA:254875
HP:0004302	Functional motor deficit	339855	KY	ORPHA:496689
HP:0004302	Functional motor deficit	142680	SLC34A3	OMIM:241530
HP:0004302	Functional motor deficit	8733	GPAA1	ORPHA:529665
HP:0004302	Functional motor deficit	1594	CYP27B1	OMIM:264700
HP:0004302	Functional motor deficit	84188	FAR1	ORPHA:438178
HP:0004302	Functional motor deficit	6905	TBCE	ORPHA:496756
HP:0004302	Functional motor deficit	6833	ABCC8	OMIM:618857
HP:0004302	Functional motor deficit	7421	VDR	OMIM:277440
HP:0004302	Functional motor deficit	10352	WARS2	ORPHA:572798
HP:0004302	Functional motor deficit	57570	TRMT5	OMIM:616539
HP:0004302	Functional motor deficit	3708	ITPR1	OMIM:117360
HP:0004302	Functional motor deficit	120227	CYP2R1	OMIM:600081
HP:0004302	Functional motor deficit	85465	SELENOI	ORPHA:506353
HP:0004302	Functional motor deficit	6683	SPAST	ORPHA:100985
HP:0004302	Functional motor deficit	1161	ERCC8	ORPHA:90324
HP:0004302	Functional motor deficit	2074	ERCC6	ORPHA:90324
HP:0004302	Functional motor deficit	8314	BAP1	ORPHA:2495
HP:0004302	Functional motor deficit	4771	NF2	ORPHA:2495
HP:0004302	Functional motor deficit	6598	SMARCB1	ORPHA:2495
HP:0004302	Functional motor deficit	5155	PDGFB	ORPHA:2495
HP:0004302	Functional motor deficit	84231	TRAF7	ORPHA:2495
HP:0004302	Functional motor deficit	6608	SMO	ORPHA:2495
HP:0004302	Functional motor deficit	207	AKT1	ORPHA:2495
HP:0004302	Functional motor deficit	5290	PIK3CA	ORPHA:2495
HP:0004302	Functional motor deficit	5290	PIK3CA	ORPHA:99802
HP:0004302	Functional motor deficit	7015	TERT	ORPHA:2495
HP:0004302	Functional motor deficit	51684	SUFU	ORPHA:2495
HP:0004302	Functional motor deficit	6605	SMARCE1	ORPHA:2495
HP:0004302	Functional motor deficit	6326	SCN2A	ORPHA:293181
HP:0004302	Functional motor deficit	57468	SLC12A5	ORPHA:293181
HP:0004302	Functional motor deficit	23236	PLCB1	ORPHA:293181
HP:0004302	Functional motor deficit	3785	KCNQ2	ORPHA:293181
HP:0004302	Functional motor deficit	57582	KCNT1	ORPHA:293181
HP:0004302	Functional motor deficit	5277	PIGA	ORPHA:293181
HP:0004302	Functional motor deficit	6323	SCN1A	ORPHA:293181
HP:0004302	Functional motor deficit	79751	SLC25A22	ORPHA:293181
HP:0004302	Functional motor deficit	57465	TBC1D24	ORPHA:293181
HP:0004302	Functional motor deficit	5551	PRF1	ORPHA:540
HP:0004302	Functional motor deficit	8676	STX11	ORPHA:540
HP:0004302	Functional motor deficit	201294	UNC13D	ORPHA:540
HP:0004302	Functional motor deficit	6813	STXBP2	ORPHA:540
HP:0004302	Functional motor deficit	6792	CDKL5	ORPHA:3095
HP:0004302	Functional motor deficit	22854	NTNG1	ORPHA:3095
HP:0004302	Functional motor deficit	9568	GABBR2	ORPHA:3095
HP:0004302	Functional motor deficit	4204	MECP2	ORPHA:3095
HP:0004302	Functional motor deficit	8243	SMC1A	ORPHA:3095
HP:0004302	Functional motor deficit	2581	GALC	ORPHA:206443
HP:0004302	Functional motor deficit	2581	GALC	ORPHA:206448
HP:0004302	Functional motor deficit	2581	GALC	ORPHA:206436
HP:0004302	Functional motor deficit	56947	MFF	ORPHA:485421
HP:0004302	Functional motor deficit	22880	MORC2	ORPHA:466768
HP:0004302	Functional motor deficit	2050	EPHB4	ORPHA:137667
HP:0004302	Functional motor deficit	5921	RASA1	ORPHA:137667
HP:0004302	Functional motor deficit	2475	MTOR	ORPHA:99802
HP:0004302	Functional motor deficit	10000	AKT3	ORPHA:99802
HP:0004302	Functional motor deficit	443	ASPA	ORPHA:314911
HP:0004302	Functional motor deficit	440193	CCDC88C	ORPHA:423275
HP:0004302	Functional motor deficit	7337	UBE3A	ORPHA:98794
HP:0004302	Functional motor deficit	4948	OCA2	ORPHA:98794
HP:0004302	Functional motor deficit	2895	GRID2	ORPHA:363432
HP:0004302	Functional motor deficit	427	ASAH1	ORPHA:2590
HP:0004302	Functional motor deficit	210	ALAD	ORPHA:100924
HP:0004302	Functional motor deficit	215	ABCD1	ORPHA:139399
HP:0004302	Functional motor deficit	215	ABCD1	ORPHA:139396
HP:0004302	Functional motor deficit	2911	GRM1	ORPHA:324262
HP:0004302	Functional motor deficit	79184	BRCC3	ORPHA:280679
HP:0004302	Functional motor deficit	5660	PSAP	ORPHA:206436
HP:0004302	Functional motor deficit	1737	DLAT	ORPHA:79244
HP:0004302	Functional motor deficit	54539	NDUFB11	ORPHA:2556
HP:0004302	Functional motor deficit	1349	COX7B	ORPHA:2556
HP:0004302	Functional motor deficit	3052	HCCS	ORPHA:2556
HP:0004302	Functional motor deficit	2131	EXT1	ORPHA:321
HP:0004302	Functional motor deficit	2132	EXT2	ORPHA:321
HP:0004302	Functional motor deficit	4914	NTRK1	ORPHA:642
HP:0004302	Functional motor deficit	5354	PLP1	ORPHA:280210
HP:0004302	Functional motor deficit	80704	SLC19A3	ORPHA:263410
HP:0004302	Functional motor deficit	23230	VPS13A	ORPHA:2388
HP:0004302	Functional motor deficit	79628	SH3TC2	ORPHA:99949
HP:0004302	Functional motor deficit	57338	JPH3	ORPHA:98934
HP:0004302	Functional motor deficit	4001	LMNB1	ORPHA:99027
HP:0004302	Functional motor deficit	7187	TRAF3	ORPHA:1930
HP:0004302	Functional motor deficit	81622	UNC93B1	ORPHA:1930
HP:0004302	Functional motor deficit	148022	TICAM1	ORPHA:1930
HP:0004302	Functional motor deficit	7098	TLR3	ORPHA:1930
HP:0004302	Functional motor deficit	29110	TBK1	ORPHA:1930
HP:0004302	Functional motor deficit	5828	PEX2	OMIM:614867
HP:0004302	Functional motor deficit	3748	KCNC3	ORPHA:98768
HP:0004302	Functional motor deficit	8565	YARS1	OMIM:608323
HP:0004302	Functional motor deficit	487	ATP2A1	OMIM:601003
HP:0004302	Functional motor deficit	23299	BICD2	OMIM:615290
HP:0004302	Functional motor deficit	119559	SFXN4	OMIM:615578
HP:0004302	Functional motor deficit	51308	REEP2	OMIM:620606
HP:0004302	Functional motor deficit	64208	POPDC3	OMIM:618848
HP:0004302	Functional motor deficit	81545	FBXO38	OMIM:615575
HP:0001435	Abnormality of the shoulder girdle musculature	57104	PNPLA2	ORPHA:565612
HP:0001435	Abnormality of the shoulder girdle musculature	1756	DMD	ORPHA:206546
HP:0001435	Abnormality of the shoulder girdle musculature	291	SLC25A4	ORPHA:254892
HP:0001435	Abnormality of the shoulder girdle musculature	5428	POLG	ORPHA:254892
HP:0001435	Abnormality of the shoulder girdle musculature	56652	TWNK	ORPHA:254892
HP:0001435	Abnormality of the shoulder girdle musculature	11232	POLG2	ORPHA:254892
HP:0001435	Abnormality of the shoulder girdle musculature	50484	RRM2B	ORPHA:254892
HP:0001435	Abnormality of the shoulder girdle musculature	23299	BICD2	ORPHA:363454
HP:0001435	Abnormality of the shoulder girdle musculature	7273	TTN	OMIM:603689
HP:0001435	Abnormality of the shoulder girdle musculature	1410	CRYAB	OMIM:608810
HP:0001435	Abnormality of the shoulder girdle musculature	79147	FKRP	OMIM:606612
HP:0001435	Abnormality of the shoulder girdle musculature	79147	FKRP	ORPHA:34515
HP:0001435	Abnormality of the shoulder girdle musculature	79147	FKRP	OMIM:607155
HP:0001435	Abnormality of the shoulder girdle musculature	2483	FRG1	OMIM:158900
HP:0001435	Abnormality of the shoulder girdle musculature	729359	PLIN4	OMIM:601846
HP:0001435	Abnormality of the shoulder girdle musculature	55791	LRIF1	OMIM:619477
HP:0001435	Abnormality of the shoulder girdle musculature	1763	DNA2	OMIM:615156
HP:0001435	Abnormality of the shoulder girdle musculature	51099	ABHD5	ORPHA:98907
HP:0001435	Abnormality of the shoulder girdle musculature	4593	MUSK	OMIM:616325
HP:0001435	Abnormality of the shoulder girdle musculature	4593	MUSK	ORPHA:98913
HP:0001435	Abnormality of the shoulder girdle musculature	22954	TRIM32	OMIM:254110
HP:0001435	Abnormality of the shoulder girdle musculature	9782	MATR3	OMIM:606070
HP:0001435	Abnormality of the shoulder girdle musculature	9782	MATR3	ORPHA:600
HP:0001435	Abnormality of the shoulder girdle musculature	6261	RYR1	ORPHA:98905
HP:0001435	Abnormality of the shoulder girdle musculature	7415	VCP	OMIM:167320
HP:0001435	Abnormality of the shoulder girdle musculature	1073	CFL2	OMIM:610687
HP:0001435	Abnormality of the shoulder girdle musculature	4625	MYH7	OMIM:608358
HP:0001435	Abnormality of the shoulder girdle musculature	7138	TNNT1	OMIM:620389
HP:0001435	Abnormality of the shoulder girdle musculature	2581	GALC	ORPHA:206436
HP:0001435	Abnormality of the shoulder girdle musculature	5660	PSAP	ORPHA:206436
HP:0001435	Abnormality of the shoulder girdle musculature	4556	MT-TE	ORPHA:2596
HP:0001435	Abnormality of the shoulder girdle musculature	6606	SMN1	OMIM:253400
HP:0001435	Abnormality of the shoulder girdle musculature	6607	SMN2	OMIM:253400
HP:0001435	Abnormality of the shoulder girdle musculature	10020	GNE	ORPHA:602
HP:0001435	Abnormality of the shoulder girdle musculature	10049	DNAJB6	OMIM:603511
HP:0001435	Abnormality of the shoulder girdle musculature	9499	MYOT	ORPHA:266
HP:0001435	Abnormality of the shoulder girdle musculature	57190	SELENON	ORPHA:2020
HP:0001435	Abnormality of the shoulder girdle musculature	58	ACTA1	ORPHA:2020
HP:0001435	Abnormality of the shoulder girdle musculature	4633	MYL2	ORPHA:2020
HP:0001435	Abnormality of the shoulder girdle musculature	3679	ITGA7	ORPHA:2020
HP:0001435	Abnormality of the shoulder girdle musculature	7169	TPM2	ORPHA:2020
HP:0001435	Abnormality of the shoulder girdle musculature	9200	HACD1	ORPHA:2020
HP:0001435	Abnormality of the shoulder girdle musculature	7170	TPM3	ORPHA:2020
HP:0001435	Abnormality of the shoulder girdle musculature	51776	MAP3K20	ORPHA:2020
HP:0001435	Abnormality of the shoulder girdle musculature	2992	GYG1	ORPHA:263297
HP:0001435	Abnormality of the shoulder girdle musculature	2992	GYG1	OMIM:616199
HP:0001435	Abnormality of the shoulder girdle musculature	1293	COL6A3	OMIM:620728
HP:0001435	Abnormality of the shoulder girdle musculature	54332	GDAP1	ORPHA:99948
HP:0001435	Abnormality of the shoulder girdle musculature	8291	DYSF	ORPHA:45448
HP:0001435	Abnormality of the shoulder girdle musculature	23534	TNPO3	OMIM:608423
HP:0001435	Abnormality of the shoulder girdle musculature	203859	ANO5	OMIM:611307
HP:0001435	Abnormality of the shoulder girdle musculature	9987	HNRNPDL	OMIM:609115
HP:0001435	Abnormality of the shoulder girdle musculature	6329	SCN4A	ORPHA:98913
HP:0001435	Abnormality of the shoulder girdle musculature	1134	CHRNA1	ORPHA:98913
HP:0001435	Abnormality of the shoulder girdle musculature	4038	LRP4	ORPHA:98913
HP:0001435	Abnormality of the shoulder girdle musculature	1305	COL13A1	ORPHA:98913
HP:0001435	Abnormality of the shoulder girdle musculature	1140	CHRNB1	ORPHA:98913
HP:0001435	Abnormality of the shoulder girdle musculature	1144	CHRND	ORPHA:98913
HP:0001435	Abnormality of the shoulder girdle musculature	1145	CHRNE	ORPHA:98913
HP:0001435	Abnormality of the shoulder girdle musculature	5913	RAPSN	ORPHA:98913
HP:0001435	Abnormality of the shoulder girdle musculature	375790	AGRN	ORPHA:98913
HP:0001435	Abnormality of the shoulder girdle musculature	221264	AK9	ORPHA:98913
HP:0001435	Abnormality of the shoulder girdle musculature	285489	DOK7	ORPHA:98913
HP:0001435	Abnormality of the shoulder girdle musculature	274	BIN1	ORPHA:169186
HP:0001435	Abnormality of the shoulder girdle musculature	274	BIN1	OMIM:255200
HP:0001435	Abnormality of the shoulder girdle musculature	10290	SPEG	ORPHA:169186
HP:0001435	Abnormality of the shoulder girdle musculature	79912	PYROXD1	OMIM:617258
HP:0001435	Abnormality of the shoulder girdle musculature	9820	CUL7	ORPHA:2616
HP:0001435	Abnormality of the shoulder girdle musculature	9820	CUL7	OMIM:273750
HP:0001435	Abnormality of the shoulder girdle musculature	23363	OBSL1	ORPHA:2616
HP:0001435	Abnormality of the shoulder girdle musculature	23363	OBSL1	OMIM:612921
HP:0001435	Abnormality of the shoulder girdle musculature	83987	CCDC8	ORPHA:2616
HP:0001435	Abnormality of the shoulder girdle musculature	253738	EBF3	ORPHA:96148
HP:0001435	Abnormality of the shoulder girdle musculature	825	CAPN3	OMIM:253600
HP:0001435	Abnormality of the shoulder girdle musculature	825	CAPN3	ORPHA:267
HP:0001435	Abnormality of the shoulder girdle musculature	825	CAPN3	OMIM:618129
HP:0001435	Abnormality of the shoulder girdle musculature	22947	DUX4L1	ORPHA:269
HP:0001435	Abnormality of the shoulder girdle musculature	1789	DNMT3B	ORPHA:269
HP:0001435	Abnormality of the shoulder girdle musculature	23347	SMCHD1	ORPHA:269
HP:0001435	Abnormality of the shoulder girdle musculature	23347	SMCHD1	OMIM:158901
HP:0001435	Abnormality of the shoulder girdle musculature	100288687	DUX4	ORPHA:269
HP:0001435	Abnormality of the shoulder girdle musculature	6442	SGCA	OMIM:608099
HP:0001435	Abnormality of the shoulder girdle musculature	6442	SGCA	ORPHA:62
HP:0001435	Abnormality of the shoulder girdle musculature	4000	LMNA	OMIM:181350
HP:0001435	Abnormality of the shoulder girdle musculature	4000	LMNA	ORPHA:98855
HP:0001435	Abnormality of the shoulder girdle musculature	4000	LMNA	ORPHA:98853
HP:0001435	Abnormality of the shoulder girdle musculature	7084	TK2	ORPHA:254886
HP:0001435	Abnormality of the shoulder girdle musculature	7084	TK2	OMIM:617069
HP:0001435	Abnormality of the shoulder girdle musculature	729920	CRPPA	OMIM:616052
HP:0001435	Abnormality of the shoulder girdle musculature	729920	CRPPA	ORPHA:352479
HP:0001435	Abnormality of the shoulder girdle musculature	55790	CSGALNACT1	OMIM:618870
HP:0001435	Abnormality of the shoulder girdle musculature	6443	SGCB	OMIM:604286
HP:0001435	Abnormality of the shoulder girdle musculature	6263	RYR3	OMIM:620310
HP:0001435	Abnormality of the shoulder girdle musculature	25778	DSTYK	OMIM:270750
HP:0001435	Abnormality of the shoulder girdle musculature	29925	GMPPB	ORPHA:353327
HP:0001435	Abnormality of the shoulder girdle musculature	2673	GFPT1	ORPHA:353327
HP:0001435	Abnormality of the shoulder girdle musculature	1798	DPAGT1	ORPHA:353327
HP:0001435	Abnormality of the shoulder girdle musculature	85365	ALG2	ORPHA:353327
HP:0001435	Abnormality of the shoulder girdle musculature	85365	ALG2	OMIM:616228
HP:0001435	Abnormality of the shoulder girdle musculature	199857	ALG14	ORPHA:353327
HP:0001435	Abnormality of the shoulder girdle musculature	10059	DNM1L	ORPHA:98673
HP:0001435	Abnormality of the shoulder girdle musculature	4976	OPA1	ORPHA:98673
HP:0001435	Abnormality of the shoulder girdle musculature	6444	SGCD	OMIM:601287
HP:0001435	Abnormality of the shoulder girdle musculature	6444	SGCD	ORPHA:219
HP:0001435	Abnormality of the shoulder girdle musculature	2273	FHL1	OMIM:300696
HP:0001435	Abnormality of the shoulder girdle musculature	2273	FHL1	OMIM:300695
HP:0001435	Abnormality of the shoulder girdle musculature	2273	FHL1	ORPHA:98863
HP:0001435	Abnormality of the shoulder girdle musculature	2316	FLNA	OMIM:305620
HP:0001435	Abnormality of the shoulder girdle musculature	55870	ASH1L	OMIM:617796
HP:0001435	Abnormality of the shoulder girdle musculature	8878	SQSTM1	OMIM:617158
HP:0001435	Abnormality of the shoulder girdle musculature	64856	VWA1	OMIM:619216
HP:0001435	Abnormality of the shoulder girdle musculature	311	ANXA11	OMIM:619733
HP:0001435	Abnormality of the shoulder girdle musculature	4604	MYBPC1	OMIM:618524
HP:0001435	Abnormality of the shoulder girdle musculature	2138	EYA1	ORPHA:2792
HP:0001435	Abnormality of the shoulder girdle musculature	2138	EYA1	OMIM:166780
HP:0001435	Abnormality of the shoulder girdle musculature	5075	PAX1	ORPHA:2792
HP:0001435	Abnormality of the shoulder girdle musculature	5075	PAX1	OMIM:615560
HP:0001435	Abnormality of the shoulder girdle musculature	3759	KCNJ2	OMIM:170390
HP:0001435	Abnormality of the shoulder girdle musculature	10558	SPTLC1	OMIM:620285
HP:0001435	Abnormality of the shoulder girdle musculature	5077	PAX3	OMIM:148820
HP:0001435	Abnormality of the shoulder girdle musculature	4620	MYH2	OMIM:605637
HP:0001435	Abnormality of the shoulder girdle musculature	80324	PUS1	OMIM:600462
HP:0001435	Abnormality of the shoulder girdle musculature	1303	COL12A1	OMIM:616471
HP:0001435	Abnormality of the shoulder girdle musculature	1303	COL12A1	ORPHA:610
HP:0001435	Abnormality of the shoulder girdle musculature	83636	C19orf12	OMIM:614298
HP:0001435	Abnormality of the shoulder girdle musculature	23545	ATP6V0A2	OMIM:278250
HP:0001435	Abnormality of the shoulder girdle musculature	200734	SPRED2	OMIM:619745
HP:0001435	Abnormality of the shoulder girdle musculature	9531	BAG3	OMIM:612954
HP:0001435	Abnormality of the shoulder girdle musculature	4747	NEFL	ORPHA:101085
HP:0001435	Abnormality of the shoulder girdle musculature	2200	FBN1	OMIM:616914
HP:0001435	Abnormality of the shoulder girdle musculature	6445	SGCG	ORPHA:353
HP:0001435	Abnormality of the shoulder girdle musculature	84665	MYPN	OMIM:617336
HP:0001435	Abnormality of the shoulder girdle musculature	84665	MYPN	ORPHA:171439
HP:0001435	Abnormality of the shoulder girdle musculature	5781	PTPN11	ORPHA:500
HP:0001435	Abnormality of the shoulder girdle musculature	5781	PTPN11	OMIM:151100
HP:0001435	Abnormality of the shoulder girdle musculature	673	BRAF	ORPHA:500
HP:0001435	Abnormality of the shoulder girdle musculature	5894	RAF1	ORPHA:500
HP:0001435	Abnormality of the shoulder girdle musculature	7204	TRIO	OMIM:617061
HP:0001435	Abnormality of the shoulder girdle musculature	10220	GDF11	OMIM:619122
HP:0001435	Abnormality of the shoulder girdle musculature	163175	LGI4	OMIM:617468
HP:0001435	Abnormality of the shoulder girdle musculature	8292	COLQ	ORPHA:98915
HP:0001435	Abnormality of the shoulder girdle musculature	3913	LAMB2	ORPHA:98915
HP:0001435	Abnormality of the shoulder girdle musculature	1291	COL6A1	ORPHA:610
HP:0001435	Abnormality of the shoulder girdle musculature	1292	COL6A2	ORPHA:610
HP:0001435	Abnormality of the shoulder girdle musculature	11117	EMILIN1	OMIM:620080
HP:0001435	Abnormality of the shoulder girdle musculature	2318	FLNC	ORPHA:171445
HP:0001435	Abnormality of the shoulder girdle musculature	56983	POGLUT1	OMIM:617232
HP:0001435	Abnormality of the shoulder girdle musculature	57479	PRR12	OMIM:619539
HP:0001435	Abnormality of the shoulder girdle musculature	390594	KBTBD13	ORPHA:171439
HP:0001435	Abnormality of the shoulder girdle musculature	4703	NEB	ORPHA:171439
HP:0001435	Abnormality of the shoulder girdle musculature	10324	KLHL41	ORPHA:171439
HP:0001435	Abnormality of the shoulder girdle musculature	2317	FLNB	OMIM:272460
HP:0001435	Abnormality of the shoulder girdle musculature	2010	EMD	ORPHA:98863
HP:0001435	Abnormality of the shoulder girdle musculature	29954	POMT2	ORPHA:206559
HP:0001435	Abnormality of the shoulder girdle musculature	23676	SMPX	OMIM:301075
HP:0001435	Abnormality of the shoulder girdle musculature	7043	TGFB3	OMIM:615582
HP:0001435	Abnormality of the shoulder girdle musculature	10801	SEPTIN9	ORPHA:2901
HP:0001435	Abnormality of the shoulder girdle musculature	7227	TRPS1	OMIM:190350
HP:0001435	Abnormality of the shoulder girdle musculature	27145	FILIP1	OMIM:620775
HP:0001435	Abnormality of the shoulder girdle musculature	23224	SYNE2	OMIM:612999
HP:0001435	Abnormality of the shoulder girdle musculature	23224	SYNE2	ORPHA:98853
HP:0001435	Abnormality of the shoulder girdle musculature	59341	TRPV4	OMIM:181405
HP:0001435	Abnormality of the shoulder girdle musculature	79188	TMEM43	ORPHA:98853
HP:0001435	Abnormality of the shoulder girdle musculature	23345	SYNE1	ORPHA:98853
HP:0001435	Abnormality of the shoulder girdle musculature	257	ALX3	OMIM:136760
HP:0001435	Abnormality of the shoulder girdle musculature	8092	ALX1	ORPHA:306542
HP:0001435	Abnormality of the shoulder girdle musculature	6885	MAP3K7	ORPHA:1826
HP:0001435	Abnormality of the shoulder girdle musculature	9939	RBM8A	OMIM:274000
HP:0001435	Abnormality of the shoulder girdle musculature	57167	SALL4	OMIM:607323
HP:0001435	Abnormality of the shoulder girdle musculature	389827	MYMK	OMIM:254940
HP:0001435	Abnormality of the shoulder girdle musculature	2218	FKTN	OMIM:611588
HP:0001435	Abnormality of the shoulder girdle musculature	6910	TBX5	OMIM:142900
HP:0001435	Abnormality of the shoulder girdle musculature	5980	REV3L	ORPHA:570
HP:0001435	Abnormality of the shoulder girdle musculature	23129	PLXND1	ORPHA:570
HP:0001435	Abnormality of the shoulder girdle musculature	3708	ITPR1	OMIM:206700
HP:0001435	Abnormality of the shoulder girdle musculature	6926	TBX3	ORPHA:3138
HP:0001435	Abnormality of the shoulder girdle musculature	101929726	MYMX	ORPHA:1358
HP:0001430	Abnormal calf musculature morphology	57104	PNPLA2	ORPHA:565612
HP:0001430	Abnormal calf musculature morphology	55958	KLHL9	ORPHA:399081
HP:0001430	Abnormal calf musculature morphology	9782	MATR3	ORPHA:600
HP:0001430	Abnormal calf musculature morphology	4625	MYH7	ORPHA:59135
HP:0001430	Abnormal calf musculature morphology	203859	ANO5	ORPHA:206549
HP:0001430	Abnormal calf musculature morphology	2318	FLNC	OMIM:614065
HP:0001430	Abnormal calf musculature morphology	4000	LMNA	OMIM:181350
HP:0001430	Abnormal calf musculature morphology	6445	SGCG	ORPHA:353
HP:0001430	Abnormal calf musculature morphology	6445	SGCG	OMIM:253700
HP:0001430	Abnormal calf musculature morphology	29925	GMPPB	ORPHA:370959
HP:0001430	Abnormal calf musculature morphology	79147	FKRP	ORPHA:370959
HP:0001430	Abnormal calf musculature morphology	29954	POMT2	ORPHA:370959
HP:0001430	Abnormal calf musculature morphology	84197	POMK	ORPHA:370959
HP:0001430	Abnormal calf musculature morphology	55624	POMGNT1	ORPHA:370959
HP:0001430	Abnormal calf musculature morphology	10585	POMT1	ORPHA:370959
HP:0001430	Abnormal calf musculature morphology	1756	DMD	OMIM:300376
HP:0001430	Abnormal calf musculature morphology	1756	DMD	OMIM:310200
HP:0001430	Abnormal calf musculature morphology	1605	DAG1	ORPHA:280333
HP:0001430	Abnormal calf musculature morphology	22954	TRIM32	OMIM:254110
HP:0001430	Abnormal calf musculature morphology	5468	PPARG	ORPHA:79083
HP:0001430	Abnormal calf musculature morphology	859	CAV3	ORPHA:488650
HP:0001430	Abnormal calf musculature morphology	6443	SGCB	OMIM:604286
HP:0001430	Abnormal calf musculature morphology	4703	NEB	OMIM:256030
HP:0001430	Abnormal calf musculature morphology	10073	SNUPN	OMIM:620793
HP:0001430	Abnormal calf musculature morphology	6442	SGCA	ORPHA:62
HP:0001430	Abnormal calf musculature morphology	729920	CRPPA	ORPHA:352479
HP:0001430	Abnormal calf musculature morphology	2201	FBN2	OMIM:121050
HP:0001430	Abnormal calf musculature morphology	5376	PMP22	ORPHA:90658
HP:0001430	Abnormal calf musculature morphology	7273	TTN	OMIM:603689
HP:0001430	Abnormal calf musculature morphology	7273	TTN	ORPHA:178464
HP:0001430	Abnormal calf musculature morphology	7273	TTN	OMIM:611705
HP:0001430	Abnormal calf musculature morphology	10367	MICU1	OMIM:615673
HP:0001430	Abnormal calf musculature morphology	6606	SMN1	OMIM:271150
HP:0001430	Abnormal calf musculature morphology	2218	FKTN	OMIM:253800
HP:0001430	Abnormal calf musculature morphology	2218	FKTN	OMIM:611615
HP:0001430	Abnormal calf musculature morphology	2218	FKTN	OMIM:611588
HP:0001430	Abnormal calf musculature morphology	274	BIN1	ORPHA:169189
HP:0001430	Abnormal calf musculature morphology	64419	MTMR14	ORPHA:169189
HP:0001430	Abnormal calf musculature morphology	4618	MYF6	ORPHA:169189
HP:0001430	Abnormal calf musculature morphology	1785	DNM2	ORPHA:169189
HP:0001430	Abnormal calf musculature morphology	6261	RYR1	ORPHA:169189
HP:0001430	Abnormal calf musculature morphology	5339	PLEC	ORPHA:254361
HP:0001430	Abnormal calf musculature morphology	8291	DYSF	ORPHA:268
HP:0001430	Abnormal calf musculature morphology	8291	DYSF	ORPHA:45448
HP:0001430	Abnormal calf musculature morphology	825	CAPN3	ORPHA:267
HP:0001430	Abnormal calf musculature morphology	5346	PLIN1	ORPHA:280356
HP:0001430	Abnormal calf musculature morphology	6576	SLC25A1	OMIM:618197
HP:0001430	Abnormal calf musculature morphology	63924	CIDEC	ORPHA:435651
HP:0001430	Abnormal calf musculature morphology	400916	CHCHD10	OMIM:615048
HP:0001430	Abnormal calf musculature morphology	3736	KCNA1	ORPHA:37612
HP:0001430	Abnormal calf musculature morphology	9215	LARGE1	OMIM:608840
HP:0001430	Abnormal calf musculature morphology	9215	LARGE1	ORPHA:370968
HP:0001430	Abnormal calf musculature morphology	6444	SGCD	OMIM:601287
HP:0001430	Abnormal calf musculature morphology	2483	FRG1	OMIM:158900
HP:0001430	Abnormal calf musculature morphology	146862	UNC45B	OMIM:619178
HP:0001430	Abnormal calf musculature morphology	64208	POPDC3	OMIM:618848
HP:0001430	Abnormal calf musculature morphology	80208	SPG11	OMIM:616668
HP:0001430	Abnormal calf musculature morphology	55679	LIMS2	OMIM:616827
HP:0001430	Abnormal calf musculature morphology	7555	CNBP	ORPHA:606
HP:0001430	Abnormal calf musculature morphology	9217	VAPB	ORPHA:209335
HP:0001430	Abnormal calf musculature morphology	84892	POMGNT2	OMIM:618135
HP:0001430	Abnormal calf musculature morphology	8557	TCAP	OMIM:601954
HP:0001430	Abnormal calf musculature morphology	54344	DPM3	ORPHA:263494
HP:0001430	Abnormal calf musculature morphology	51776	MAP3K20	OMIM:617760
HP:0001430	Abnormal calf musculature morphology	3908	LAMA2	OMIM:618138
HP:0001430	Abnormal calf musculature morphology	8449	DHX16	OMIM:618733
HP:0001430	Abnormal calf musculature morphology	367	AR	OMIM:313200
HP:0001430	Abnormal calf musculature morphology	3156	HMGCR	OMIM:620375
HP:0001430	Abnormal calf musculature morphology	8425	LTBP4	ORPHA:98896
HP:0001430	Abnormal calf musculature morphology	9897	WASHC5	ORPHA:100989
HP:0001430	Abnormal calf musculature morphology	3094	HINT1	ORPHA:324442
HP:0001430	Abnormal calf musculature morphology	65055	REEP1	OMIM:614751
HP:0001430	Abnormal calf musculature morphology	23230	VPS13A	ORPHA:2388
HP:0001430	Abnormal calf musculature morphology	3708	ITPR1	OMIM:117360
HP:0001430	Abnormal calf musculature morphology	1674	DES	OMIM:181400
HP:0001430	Abnormal calf musculature morphology	59341	TRPV4	OMIM:181405
HP:0001430	Abnormal calf musculature morphology	26278	SACS	OMIM:270550
HP:0001430	Abnormal calf musculature morphology	2273	FHL1	OMIM:300695
HP:0004313	Decreased circulating antibody concentration	3561	IL2RG	ORPHA:276
HP:0004313	Decreased circulating antibody concentration	3561	IL2RG	OMIM:300400
HP:0004313	Decreased circulating antibody concentration	64421	DCLRE1C	ORPHA:275
HP:0004313	Decreased circulating antibody concentration	695	BTK	OMIM:300755
HP:0004313	Decreased circulating antibody concentration	3932	LCK	OMIM:615758
HP:0004313	Decreased circulating antibody concentration	987	LRBA	OMIM:614700
HP:0004313	Decreased circulating antibody concentration	959	CD40LG	OMIM:308230
HP:0004313	Decreased circulating antibody concentration	57379	AICDA	OMIM:605258
HP:0004313	Decreased circulating antibody concentration	5424	POLD1	OMIM:620836
HP:0004313	Decreased circulating antibody concentration	841	CASP8	OMIM:607271
HP:0004313	Decreased circulating antibody concentration	8085	KMT2D	ORPHA:2322
HP:0004313	Decreased circulating antibody concentration	8085	KMT2D	OMIM:147920
HP:0004313	Decreased circulating antibody concentration	7403	KDM6A	ORPHA:2322
HP:0004313	Decreased circulating antibody concentration	7403	KDM6A	OMIM:147920
HP:0004313	Decreased circulating antibody concentration	3543	IGLL1	OMIM:613500
HP:0004313	Decreased circulating antibody concentration	2314	FLII	ORPHA:819
HP:0004313	Decreased circulating antibody concentration	23096	IQSEC2	ORPHA:819
HP:0004313	Decreased circulating antibody concentration	10743	RAI1	ORPHA:819
HP:0004313	Decreased circulating antibody concentration	10522	DEAF1	ORPHA:819
HP:0004313	Decreased circulating antibody concentration	29760	BLNK	OMIM:613502
HP:0004313	Decreased circulating antibody concentration	868	CBLB	OMIM:620430
HP:0004313	Decreased circulating antibody concentration	29927	SEC61A1	OMIM:620670
HP:0004313	Decreased circulating antibody concentration	7298	TYMS	OMIM:620040
HP:0004313	Decreased circulating antibody concentration	84876	ORAI1	OMIM:612782
HP:0004313	Decreased circulating antibody concentration	9020	MAP3K14	OMIM:620449
HP:0004313	Decreased circulating antibody concentration	6786	STIM1	OMIM:612783
HP:0004313	Decreased circulating antibody concentration	8792	TNFRSF11A	OMIM:612301
HP:0004313	Decreased circulating antibody concentration	3117	HLA-DQA1	OMIM:212750
HP:0004313	Decreased circulating antibody concentration	3119	HLA-DQB1	OMIM:212750
HP:0004313	Decreased circulating antibody concentration	79087	ALG12	OMIM:607143
HP:0004313	Decreased circulating antibody concentration	7374	UNG	OMIM:608106
HP:0004313	Decreased circulating antibody concentration	958	CD40	OMIM:606843
HP:0004313	Decreased circulating antibody concentration	10815	CPLX1	ORPHA:280
HP:0004313	Decreased circulating antibody concentration	54872	PIGG	ORPHA:280
HP:0004313	Decreased circulating antibody concentration	7469	NELFA	ORPHA:280
HP:0004313	Decreased circulating antibody concentration	1487	CTBP1	ORPHA:280
HP:0004313	Decreased circulating antibody concentration	3954	LETM1	ORPHA:280
HP:0004313	Decreased circulating antibody concentration	7468	NSD2	ORPHA:280
HP:0004313	Decreased circulating antibody concentration	2475	MTOR	ORPHA:457485
HP:0004313	Decreased circulating antibody concentration	2475	MTOR	OMIM:616638
HP:0004313	Decreased circulating antibody concentration	6773	STAT2	OMIM:616636
HP:0004313	Decreased circulating antibody concentration	5373	PMM2	OMIM:212065
HP:0004313	Decreased circulating antibody concentration	10043	TOM1	OMIM:619510
HP:0004313	Decreased circulating antibody concentration	10526	IPO8	OMIM:619472
HP:0004313	Decreased circulating antibody concentration	51604	PIGT	ORPHA:369837
HP:0004313	Decreased circulating antibody concentration	54440	SASH3	OMIM:301082
HP:0004313	Decreased circulating antibody concentration	60468	BACH2	OMIM:618394
HP:0004313	Decreased circulating antibody concentration	83737	ITCH	OMIM:613385
HP:0004313	Decreased circulating antibody concentration	974	CD79B	OMIM:612692
HP:0004313	Decreased circulating antibody concentration	5336	PLCG2	OMIM:614878
HP:0004313	Decreased circulating antibody concentration	84905	ZNF341	OMIM:618282
HP:0004313	Decreased circulating antibody concentration	5966	REL	OMIM:619652
HP:0004313	Decreased circulating antibody concentration	139818	DOCK11	OMIM:301109
HP:0004313	Decreased circulating antibody concentration	3978	LIG1	OMIM:619774
HP:0004313	Decreased circulating antibody concentration	100	ADA	OMIM:102700
HP:0004313	Decreased circulating antibody concentration	5557	PRIM1	OMIM:620005
HP:0004313	Decreased circulating antibody concentration	3514	IGKC	ORPHA:183675
HP:0004313	Decreased circulating antibody concentration	3501	IGHG2	ORPHA:183675
HP:0004313	Decreased circulating antibody concentration	5699	PSMB10	OMIM:620807
HP:0004313	Decreased circulating antibody concentration	6688	SPI1	OMIM:619707
HP:0004313	Decreased circulating antibody concentration	284119	CAVIN1	OMIM:613327
HP:0004313	Decreased circulating antibody concentration	6929	TCF3	OMIM:619824
HP:0004313	Decreased circulating antibody concentration	3559	IL2RA	OMIM:606367
HP:0004313	Decreased circulating antibody concentration	165918	RNF168	ORPHA:420741
HP:0004313	Decreased circulating antibody concentration	4067	LYN	OMIM:620376
HP:0004313	Decreased circulating antibody concentration	57511	COG6	OMIM:614576
HP:0004313	Decreased circulating antibody concentration	84061	MAGT1	OMIM:300853
HP:0004313	Decreased circulating antibody concentration	30011	SH3KBP1	OMIM:300310
HP:0004313	Decreased circulating antibody concentration	355	FAS	ORPHA:3261
HP:0004313	Decreased circulating antibody concentration	356	FASLG	ORPHA:3261
HP:0004313	Decreased circulating antibody concentration	843	CASP10	ORPHA:3261
HP:0004313	Decreased circulating antibody concentration	7454	WAS	OMIM:301000
HP:0004313	Decreased circulating antibody concentration	5880	RAC2	OMIM:618987
HP:0004313	Decreased circulating antibody concentration	3570	IL6R	OMIM:618944
HP:0004313	Decreased circulating antibody concentration	28956	LAMTOR2	OMIM:610798
HP:0004313	Decreased circulating antibody concentration	3718	JAK3	ORPHA:35078
HP:0004313	Decreased circulating antibody concentration	23387	SIK3	OMIM:618162
HP:0004313	Decreased circulating antibody concentration	916	CD3E	OMIM:615615
HP:0004313	Decreased circulating antibody concentration	5426	POLE	OMIM:615139
HP:0004313	Decreased circulating antibody concentration	6850	SYK	OMIM:619381
HP:0004313	Decreased circulating antibody concentration	81704	DOCK8	OMIM:243700
HP:0004313	Decreased circulating antibody concentration	96459	FNIP1	OMIM:619705
HP:0004313	Decreased circulating antibody concentration	9138	ARHGEF1	OMIM:618459
HP:0004313	Decreased circulating antibody concentration	8883	NAE1	OMIM:620210
HP:0004313	Decreased circulating antibody concentration	4683	NBN	OMIM:251260
HP:0004313	Decreased circulating antibody concentration	7535	ZAP70	OMIM:269840
HP:0004313	Decreased circulating antibody concentration	6499	SKIC2	ORPHA:84064
HP:0004313	Decreased circulating antibody concentration	50615	IL21R	OMIM:615207
HP:0004313	Decreased circulating antibody concentration	404672	GTF2H5	ORPHA:33364
HP:0004313	Decreased circulating antibody concentration	833	CARS1	ORPHA:33364
HP:0004313	Decreased circulating antibody concentration	2068	ERCC2	ORPHA:33364
HP:0004313	Decreased circulating antibody concentration	7737	RNF113A	ORPHA:33364
HP:0004313	Decreased circulating antibody concentration	136647	MPLKIP	ORPHA:33364
HP:0004313	Decreased circulating antibody concentration	6897	TARS1	ORPHA:33364
HP:0004313	Decreased circulating antibody concentration	16	AARS1	ORPHA:33364
HP:0004313	Decreased circulating antibody concentration	2071	ERCC3	ORPHA:33364
HP:0004313	Decreased circulating antibody concentration	2961	GTF2E2	ORPHA:33364
HP:0004313	Decreased circulating antibody concentration	3431	SP110	ORPHA:79124
HP:0004313	Decreased circulating antibody concentration	10159	ATP6AP2	OMIM:301045
HP:0004313	Decreased circulating antibody concentration	2137	EXTL3	ORPHA:508533
HP:0004313	Decreased circulating antibody concentration	2137	EXTL3	OMIM:617425
HP:0004313	Decreased circulating antibody concentration	83483	PLVAP	OMIM:618183
HP:0004313	Decreased circulating antibody concentration	51750	RTEL1	OMIM:615190
HP:0004313	Decreased circulating antibody concentration	4791	NFKB2	ORPHA:293978
HP:0004313	Decreased circulating antibody concentration	4791	NFKB2	ORPHA:1572
HP:0004313	Decreased circulating antibody concentration	3551	IKBKB	OMIM:615592
HP:0004313	Decreased circulating antibody concentration	26235	FBXL4	OMIM:615471
HP:0004313	Decreased circulating antibody concentration	5728	PTEN	OMIM:605309
HP:0004313	Decreased circulating antibody concentration	5728	PTEN	OMIM:158350
HP:0004313	Decreased circulating antibody concentration	5728	PTEN	ORPHA:397596
HP:0004313	Decreased circulating antibody concentration	1493	CTLA4	ORPHA:436159
HP:0004313	Decreased circulating antibody concentration	1493	CTLA4	OMIM:616100
HP:0004313	Decreased circulating antibody concentration	331	XIAP	OMIM:300635
HP:0004313	Decreased circulating antibody concentration	331	XIAP	OMIM:308240
HP:0004313	Decreased circulating antibody concentration	331	XIAP	ORPHA:538934
HP:0004313	Decreased circulating antibody concentration	23308	ICOSLG	OMIM:620825
HP:0004313	Decreased circulating antibody concentration	10309	CCNO	OMIM:615872
HP:0004313	Decreased circulating antibody concentration	100151683	RNU4ATAC	ORPHA:353298
HP:0004313	Decreased circulating antibody concentration	8737	RIPK1	OMIM:618108
HP:0004313	Decreased circulating antibody concentration	113235	SLC46A1	ORPHA:90045
HP:0004313	Decreased circulating antibody concentration	2316	FLNA	ORPHA:99811
HP:0004313	Decreased circulating antibody concentration	5551	PRF1	ORPHA:540
HP:0004313	Decreased circulating antibody concentration	8676	STX11	ORPHA:540
HP:0004313	Decreased circulating antibody concentration	201294	UNC13D	ORPHA:540
HP:0004313	Decreased circulating antibody concentration	6813	STXBP2	ORPHA:540
HP:0004313	Decreased circulating antibody concentration	6813	STXBP2	OMIM:613101
HP:0004313	Decreased circulating antibody concentration	4522	MTHFD1	OMIM:617780
HP:0004313	Decreased circulating antibody concentration	939	CD27	OMIM:615122
HP:0004313	Decreased circulating antibody concentration	10525	HYOU1	OMIM:233600
HP:0004313	Decreased circulating antibody concentration	4790	NFKB1	OMIM:616576
HP:0004313	Decreased circulating antibody concentration	4790	NFKB1	ORPHA:1572
HP:0004313	Decreased circulating antibody concentration	114803	MYSM1	OMIM:618116
HP:0004313	Decreased circulating antibody concentration	56259	CTNNBL1	OMIM:619846
HP:0004313	Decreased circulating antibody concentration	4068	SH2D1A	OMIM:308240
HP:0004313	Decreased circulating antibody concentration	79840	NHEJ1	ORPHA:169079
HP:0004313	Decreased circulating antibody concentration	5994	RFXAP	ORPHA:572
HP:0004313	Decreased circulating antibody concentration	4261	CIITA	ORPHA:572
HP:0004313	Decreased circulating antibody concentration	5993	RFX5	ORPHA:572
HP:0004313	Decreased circulating antibody concentration	8625	RFXANK	ORPHA:572
HP:0004313	Decreased circulating antibody concentration	6023	RMRP	ORPHA:175
HP:0004313	Decreased circulating antibody concentration	7037	TFRC	OMIM:616740
HP:0004313	Decreased circulating antibody concentration	537	ATP6AP1	OMIM:300972
HP:0004313	Decreased circulating antibody concentration	4125	MAN2B1	OMIM:248500
HP:0004313	Decreased circulating antibody concentration	10111	RAD50	OMIM:613078
HP:0004313	Decreased circulating antibody concentration	7852	CXCR4	OMIM:193670
HP:0004313	Decreased circulating antibody concentration	7852	CXCR4	ORPHA:51636
HP:0004313	Decreased circulating antibody concentration	5896	RAG1	ORPHA:331206
HP:0004313	Decreased circulating antibody concentration	5897	RAG2	ORPHA:331206
HP:0004313	Decreased circulating antibody concentration	7841	MOGS	OMIM:606056
HP:0004313	Decreased circulating antibody concentration	7841	MOGS	ORPHA:79330
HP:0004313	Decreased circulating antibody concentration	7555	CNBP	ORPHA:606
HP:0004313	Decreased circulating antibody concentration	9839	ZEB2	ORPHA:261552
HP:0004313	Decreased circulating antibody concentration	9839	ZEB2	ORPHA:261537
HP:0004313	Decreased circulating antibody concentration	4478	MSN	OMIM:300988
HP:0004313	Decreased circulating antibody concentration	146206	CARMIL2	OMIM:618131
HP:0004313	Decreased circulating antibody concentration	29128	UHRF1	ORPHA:2268
HP:0004313	Decreased circulating antibody concentration	3070	HELLS	ORPHA:2268
HP:0004313	Decreased circulating antibody concentration	3070	HELLS	OMIM:616911
HP:0004313	Decreased circulating antibody concentration	1789	DNMT3B	ORPHA:2268
HP:0004313	Decreased circulating antibody concentration	83879	CDCA7	ORPHA:2268
HP:0004313	Decreased circulating antibody concentration	83879	CDCA7	OMIM:616910
HP:0004313	Decreased circulating antibody concentration	9841	ZBTB24	ORPHA:2268
HP:0004313	Decreased circulating antibody concentration	9841	ZBTB24	OMIM:614069
HP:0004313	Decreased circulating antibody concentration	10320	IKZF1	OMIM:616873
HP:0004313	Decreased circulating antibody concentration	23495	TNFRSF13B	ORPHA:1572
HP:0004313	Decreased circulating antibody concentration	115650	TNFRSF13C	ORPHA:1572
HP:0004313	Decreased circulating antibody concentration	1380	CR2	ORPHA:1572
HP:0004313	Decreased circulating antibody concentration	8742	TNFSF12	ORPHA:1572
HP:0004313	Decreased circulating antibody concentration	930	CD19	ORPHA:1572
HP:0004313	Decreased circulating antibody concentration	29851	ICOS	ORPHA:1572
HP:0004313	Decreased circulating antibody concentration	931	MS4A1	ORPHA:1572
HP:0004313	Decreased circulating antibody concentration	975	CD81	ORPHA:1572
HP:0004313	Decreased circulating antibody concentration	359948	IRF2BP2	ORPHA:1572
HP:0004313	Decreased circulating antibody concentration	8517	IKBKG	ORPHA:98813
HP:0004313	Decreased circulating antibody concentration	8517	IKBKG	OMIM:301081
HP:0004313	Decreased circulating antibody concentration	4792	NFKBIA	ORPHA:98813
HP:0004313	Decreased circulating antibody concentration	970	CD70	OMIM:618261
HP:0004313	Decreased circulating antibody concentration	9056	SLC7A7	ORPHA:470
HP:0004313	Decreased circulating antibody concentration	57217	TTC7A	OMIM:243150
HP:0004313	Decreased circulating antibody concentration	595	CCND1	ORPHA:29073
HP:0004313	Decreased circulating antibody concentration	51095	TRNT1	OMIM:616084
HP:0004313	Decreased circulating antibody concentration	3702	ITK	OMIM:613011
HP:0004313	Decreased circulating antibody concentration	3572	IL6ST	OMIM:619750
HP:0004313	Decreased circulating antibody concentration	6774	STAT3	OMIM:615952
HP:0004313	Decreased circulating antibody concentration	9508	ADAMTS3	ORPHA:2136
HP:0004313	Decreased circulating antibody concentration	147372	CCBE1	ORPHA:2136
HP:0004313	Decreased circulating antibody concentration	79633	FAT4	ORPHA:2136
HP:0004313	Decreased circulating antibody concentration	4796	TONSL	ORPHA:93357
HP:0004313	Decreased circulating antibody concentration	5293	PIK3CD	ORPHA:221139
HP:0004313	Decreased circulating antibody concentration	5293	PIK3CD	ORPHA:397596
HP:0004313	Decreased circulating antibody concentration	90417	KNSTRN	ORPHA:221139
HP:0004313	Decreased circulating antibody concentration	472	ATM	ORPHA:100
HP:0004313	Decreased circulating antibody concentration	3507	IGHM	OMIM:601495
HP:0004313	Decreased circulating antibody concentration	4247	MGAT2	ORPHA:79329
HP:0004313	Decreased circulating antibody concentration	1457	CSNK2A1	OMIM:617062
HP:0004313	Decreased circulating antibody concentration	493856	CISD2	OMIM:604928
HP:0004313	Decreased circulating antibody concentration	8915	BCL10	OMIM:616098
HP:0004313	Decreased circulating antibody concentration	5295	PIK3R1	ORPHA:397596
HP:0004313	Decreased circulating antibody concentration	5788	PTPRC	OMIM:619924
HP:0004313	Decreased circulating antibody concentration	4780	NFE2L2	OMIM:617744
HP:0004313	Decreased circulating antibody concentration	51816	ADA2	OMIM:615688
HP:0004313	Decreased circulating antibody concentration	6117	RPA1	OMIM:619767
HP:0004313	Decreased circulating antibody concentration	10165	SLC25A13	ORPHA:247598
HP:0004313	Decreased circulating antibody concentration	84433	CARD11	OMIM:615206
HP:0004313	Decreased circulating antibody concentration	5294	PIK3CG	OMIM:619802
HP:0004313	Decreased circulating antibody concentration	50485	SMARCAL1	OMIM:242900
HP:0004313	Decreased circulating antibody concentration	6948	TCN2	ORPHA:859
HP:0004313	Decreased circulating antibody concentration	4938	OAS1	OMIM:618042
HP:0004313	Decreased circulating antibody concentration	7157	TP53	OMIM:618165
HP:0004313	Decreased circulating antibody concentration	9652	SKIC3	OMIM:222470
HP:0004313	Decreased circulating antibody concentration	27040	LAT	OMIM:617514
HP:0004313	Decreased circulating antibody concentration	10625	IVNS1ABP	OMIM:618969
HP:0004313	Decreased circulating antibody concentration	9939	RBM8A	OMIM:274000
HP:0004313	Decreased circulating antibody concentration	641	BLM	ORPHA:125
HP:0004313	Decreased circulating antibody concentration	1604	CD55	OMIM:226300
HP:0004313	Decreased circulating antibody concentration	28985	MCTS1	OMIM:301115
HP:0004313	Decreased circulating antibody concentration	3852	KRT5	ORPHA:79396
HP:0004313	Decreased circulating antibody concentration	3861	KRT14	ORPHA:79396
HP:0004313	Decreased circulating antibody concentration	219285	SAMD9L	ORPHA:2585
HP:0004313	Decreased circulating antibody concentration	204	AK2	ORPHA:33355
HP:0004313	Decreased circulating antibody concentration	11005	SPINK5	ORPHA:634
HP:0004313	Decreased circulating antibody concentration	59067	IL21	OMIM:615767
HP:0004313	Decreased circulating antibody concentration	5698	PSMB9	OMIM:620796
HP:0004313	Decreased circulating antibody concentration	3604	TNFRSF9	OMIM:620282
HP:0004313	Decreased circulating antibody concentration	915	CD3D	ORPHA:169160
HP:0004313	Decreased circulating antibody concentration	919	CD247	ORPHA:169160
HP:0004313	Decreased circulating antibody concentration	65082	VPS33A	ORPHA:505248
HP:0004313	Decreased circulating antibody concentration	55687	TRMU	OMIM:613070
HP:0004313	Decreased circulating antibody concentration	1503	CTPS1	OMIM:615897
HP:0004313	Decreased circulating antibody concentration	6573	SLC19A1	OMIM:620603
HP:0004313	Decreased circulating antibody concentration	567	B2M	OMIM:241600
HP:0004313	Decreased circulating antibody concentration	10125	RASGRP1	OMIM:618534
HP:0004313	Decreased circulating antibody concentration	374354	NHLRC2	OMIM:618278
HP:0004313	Decreased circulating antibody concentration	55072	RNF31	OMIM:620632
HP:0004313	Decreased circulating antibody concentration	57724	EPG5	OMIM:242840
HP:0004313	Decreased circulating antibody concentration	57724	EPG5	ORPHA:1493
HP:0004313	Decreased circulating antibody concentration	6651	SON	ORPHA:500150
HP:0004313	Decreased circulating antibody concentration	51311	TLR8	OMIM:301078
HP:0004313	Decreased circulating antibody concentration	8884	SLC5A6	OMIM:618973
HP:0004313	Decreased circulating antibody concentration	84888	SPPL2A	OMIM:619549
HP:0004313	Decreased circulating antibody concentration	7922	SLC39A7	OMIM:619693
HP:0004313	Decreased circulating antibody concentration	7922	SLC39A7	ORPHA:33110
HP:0004313	Decreased circulating antibody concentration	1678	TIMM8A	ORPHA:52368
HP:0004313	Decreased circulating antibody concentration	973	CD79A	OMIM:613501
HP:0004313	Decreased circulating antibody concentration	973	CD79A	ORPHA:33110
HP:0004313	Decreased circulating antibody concentration	56262	LRRC8A	OMIM:613506
HP:0004313	Decreased circulating antibody concentration	56262	LRRC8A	ORPHA:33110
HP:0004313	Decreased circulating antibody concentration	64135	IFIH1	OMIM:619773
HP:0004313	Decreased circulating antibody concentration	917	CD3G	OMIM:615607
HP:0004313	Decreased circulating antibody concentration	55343	SLC35C1	ORPHA:99843
HP:0004313	Decreased circulating antibody concentration	10892	MALT1	OMIM:615468
HP:0004313	Decreased circulating antibody concentration	5580	PRKCD	OMIM:615559
HP:0004313	Decreased circulating antibody concentration	11151	CORO1A	OMIM:615401
HP:0004313	Decreased circulating antibody concentration	81858	SHARPIN	OMIM:620795
HP:0004313	Decreased circulating antibody concentration	51135	IRAK4	OMIM:607676
HP:0004312	Abnormal reticulocyte morphology	114803	MYSM1	ORPHA:508542
HP:0004312	Abnormal reticulocyte morphology	6138	RPL15	ORPHA:124
HP:0004312	Abnormal reticulocyte morphology	6138	RPL15	OMIM:615550
HP:0004312	Abnormal reticulocyte morphology	6224	RPS20	ORPHA:124
HP:0004312	Abnormal reticulocyte morphology	6165	RPL35A	ORPHA:124
HP:0004312	Abnormal reticulocyte morphology	6165	RPL35A	OMIM:612528
HP:0004312	Abnormal reticulocyte morphology	6132	RPL8	ORPHA:124
HP:0004312	Abnormal reticulocyte morphology	6223	RPS19	ORPHA:124
HP:0004312	Abnormal reticulocyte morphology	6223	RPS19	OMIM:105650
HP:0004312	Abnormal reticulocyte morphology	6232	RPS27	ORPHA:124
HP:0004312	Abnormal reticulocyte morphology	55027	HEATR3	ORPHA:124
HP:0004312	Abnormal reticulocyte morphology	6160	RPL31	ORPHA:124
HP:0004312	Abnormal reticulocyte morphology	6201	RPS7	ORPHA:124
HP:0004312	Abnormal reticulocyte morphology	6155	RPL27	ORPHA:124
HP:0004312	Abnormal reticulocyte morphology	6234	RPS28	ORPHA:124
HP:0004312	Abnormal reticulocyte morphology	6135	RPL11	ORPHA:124
HP:0004312	Abnormal reticulocyte morphology	6229	RPS24	ORPHA:124
HP:0004312	Abnormal reticulocyte morphology	6229	RPS24	OMIM:610629
HP:0004312	Abnormal reticulocyte morphology	6125	RPL5	ORPHA:124
HP:0004312	Abnormal reticulocyte morphology	6204	RPS10	ORPHA:124
HP:0004312	Abnormal reticulocyte morphology	6133	RPL9	ORPHA:124
HP:0004312	Abnormal reticulocyte morphology	6231	RPS26	ORPHA:124
HP:0004312	Abnormal reticulocyte morphology	6231	RPS26	OMIM:613309
HP:0004312	Abnormal reticulocyte morphology	11224	RPL35	ORPHA:124
HP:0004312	Abnormal reticulocyte morphology	6218	RPS17	ORPHA:124
HP:0004312	Abnormal reticulocyte morphology	6218	RPS17	OMIM:612527
HP:0004312	Abnormal reticulocyte morphology	6154	RPL26	ORPHA:124
HP:0004312	Abnormal reticulocyte morphology	6210	RPS15A	ORPHA:124
HP:0004312	Abnormal reticulocyte morphology	90121	TSR2	ORPHA:124
HP:0004312	Abnormal reticulocyte morphology	6141	RPL18	ORPHA:124
HP:0004312	Abnormal reticulocyte morphology	6235	RPS29	ORPHA:124
HP:0004312	Abnormal reticulocyte morphology	51816	ADA2	ORPHA:124
HP:0004312	Abnormal reticulocyte morphology	2177	FANCD2	OMIM:227646
HP:0004312	Abnormal reticulocyte morphology	3458	IFNG	ORPHA:88
HP:0004312	Abnormal reticulocyte morphology	5551	PRF1	ORPHA:88
HP:0004312	Abnormal reticulocyte morphology	7012	TERC	ORPHA:88
HP:0004312	Abnormal reticulocyte morphology	51119	SBDS	ORPHA:88
HP:0004312	Abnormal reticulocyte morphology	7015	TERT	ORPHA:88
HP:0004312	Abnormal reticulocyte morphology	2176	FANCC	OMIM:227645
HP:0004312	Abnormal reticulocyte morphology	2178	FANCE	OMIM:600901
HP:0004312	Abnormal reticulocyte morphology	55240	STEAP3	ORPHA:300298
HP:0004312	Abnormal reticulocyte morphology	2175	FANCA	OMIM:227650
HP:0004312	Abnormal reticulocyte morphology	6948	TCN2	OMIM:275350
HP:0004312	Abnormal reticulocyte morphology	3043	HBB	ORPHA:232
HP:0004312	Abnormal reticulocyte morphology	3043	HBB	ORPHA:251380
HP:0004312	Abnormal reticulocyte morphology	355	FAS	ORPHA:3261
HP:0004312	Abnormal reticulocyte morphology	356	FASLG	ORPHA:3261
HP:0004312	Abnormal reticulocyte morphology	843	CASP10	ORPHA:3261
HP:0004312	Abnormal reticulocyte morphology	6521	SLC4A1	OMIM:185020
HP:0004312	Abnormal reticulocyte morphology	6521	SLC4A1	OMIM:611590
HP:0004312	Abnormal reticulocyte morphology	6521	SLC4A1	ORPHA:822
HP:0004312	Abnormal reticulocyte morphology	6521	SLC4A1	OMIM:612653
HP:0004312	Abnormal reticulocyte morphology	6521	SLC4A1	ORPHA:3202
HP:0004312	Abnormal reticulocyte morphology	6006	RHCE	OMIM:617970
HP:0004312	Abnormal reticulocyte morphology	6006	RHCE	ORPHA:71275
HP:0004312	Abnormal reticulocyte morphology	3783	KCNN4	OMIM:616689
HP:0004312	Abnormal reticulocyte morphology	3783	KCNN4	ORPHA:3202
HP:0004312	Abnormal reticulocyte morphology	8573	CASK	OMIM:300908
HP:0004312	Abnormal reticulocyte morphology	2539	G6PD	OMIM:300908
HP:0004312	Abnormal reticulocyte morphology	84529	CDIN1	OMIM:615631
HP:0004312	Abnormal reticulocyte morphology	6710	SPTB	OMIM:616649
HP:0004312	Abnormal reticulocyte morphology	6710	SPTB	ORPHA:822
HP:0004312	Abnormal reticulocyte morphology	6710	SPTB	ORPHA:288
HP:0004312	Abnormal reticulocyte morphology	6513	SLC2A1	OMIM:612126
HP:0004312	Abnormal reticulocyte morphology	3048	HBG2	OMIM:613977
HP:0004312	Abnormal reticulocyte morphology	3048	HBG2	ORPHA:251380
HP:0004312	Abnormal reticulocyte morphology	10058	ABCB6	ORPHA:90044
HP:0004312	Abnormal reticulocyte morphology	9780	PIEZO1	OMIM:194380
HP:0004312	Abnormal reticulocyte morphology	9780	PIEZO1	ORPHA:3202
HP:0004312	Abnormal reticulocyte morphology	286	ANK1	OMIM:182900
HP:0004312	Abnormal reticulocyte morphology	286	ANK1	ORPHA:822
HP:0004312	Abnormal reticulocyte morphology	2038	EPB42	ORPHA:822
HP:0004312	Abnormal reticulocyte morphology	2038	EPB42	OMIM:612690
HP:0004312	Abnormal reticulocyte morphology	6708	SPTA1	ORPHA:822
HP:0004312	Abnormal reticulocyte morphology	6708	SPTA1	OMIM:130600
HP:0004312	Abnormal reticulocyte morphology	6708	SPTA1	ORPHA:288
HP:0004312	Abnormal reticulocyte morphology	53335	BCL11A	ORPHA:251380
HP:0004312	Abnormal reticulocyte morphology	10661	KLF1	ORPHA:251380
HP:0004312	Abnormal reticulocyte morphology	10661	KLF1	OMIM:613673
HP:0004312	Abnormal reticulocyte morphology	3047	HBG1	ORPHA:251380
HP:0004312	Abnormal reticulocyte morphology	10483	SEC23B	OMIM:224100
HP:0004312	Abnormal reticulocyte morphology	374354	NHLRC2	OMIM:618278
HP:0004312	Abnormal reticulocyte morphology	3098	HK1	OMIM:235700
HP:0004312	Abnormal reticulocyte morphology	11093	ADAMTS13	OMIM:274150
HP:0004312	Abnormal reticulocyte morphology	2729	GCLC	ORPHA:33574
HP:0004312	Abnormal reticulocyte morphology	2729	GCLC	OMIM:230450
HP:0004312	Abnormal reticulocyte morphology	8029	CUBN	ORPHA:35858
HP:0004312	Abnormal reticulocyte morphology	81693	AMN	ORPHA:35858
HP:0004312	Abnormal reticulocyte morphology	6005	RHAG	OMIM:185000
HP:0004312	Abnormal reticulocyte morphology	6005	RHAG	ORPHA:3203
HP:0004312	Abnormal reticulocyte morphology	6005	RHAG	ORPHA:71275
HP:0004312	Abnormal reticulocyte morphology	5230	PGK1	OMIM:300653
HP:0004312	Abnormal reticulocyte morphology	5230	PGK1	ORPHA:713
HP:0004312	Abnormal reticulocyte morphology	1186	CLCN7	OMIM:611490
HP:0004312	Abnormal reticulocyte morphology	5213	PFKM	OMIM:232800
HP:0004312	Abnormal reticulocyte morphology	64241	ABCG8	OMIM:210250
HP:0004312	Abnormal reticulocyte morphology	5313	PKLR	ORPHA:766
HP:0004312	Abnormal reticulocyte morphology	5313	PKLR	OMIM:266200
HP:0004312	Abnormal reticulocyte morphology	5277	PIGA	ORPHA:447
HP:0004312	Abnormal reticulocyte morphology	2035	EPB41	ORPHA:288
HP:0004312	Abnormal reticulocyte morphology	2995	GYPC	ORPHA:288
HP:0004312	Abnormal reticulocyte morphology	4547	MTTP	ORPHA:14
HP:0004312	Abnormal reticulocyte morphology	51251	NT5C3A	OMIM:266120
HP:0004312	Abnormal reticulocyte morphology	1371	CPOX	OMIM:618892
HP:0004312	Abnormal reticulocyte morphology	146059	CDAN1	OMIM:224120
HP:0004312	Abnormal reticulocyte morphology	2582	GALE	OMIM:620776
HP:0004312	Abnormal reticulocyte morphology	7390	UROS	ORPHA:79277
HP:0004312	Abnormal reticulocyte morphology	10878	CFHR3	OMIM:235400
HP:0004312	Abnormal reticulocyte morphology	3075	CFH	OMIM:235400
HP:0004312	Abnormal reticulocyte morphology	3078	CFHR1	OMIM:235400
HP:0004312	Abnormal reticulocyte morphology	6007	RHD	ORPHA:71275
HP:0004312	Abnormal reticulocyte morphology	2623	GATA1	OMIM:300835
HP:0004311	Abnormal macrophage morphology	6609	SMPD1	OMIM:607616
HP:0004311	Abnormal macrophage morphology	6609	SMPD1	OMIM:257200
HP:0004311	Abnormal macrophage morphology	10577	NPC2	OMIM:607625
HP:0004311	Abnormal macrophage morphology	2720	GLB1	OMIM:230600
HP:0004311	Abnormal macrophage morphology	348	APOE	ORPHA:158029
HP:0004311	Abnormal macrophage morphology	348	APOE	OMIM:269600
HP:0004311	Abnormal macrophage morphology	4864	NPC1	OMIM:257220
HP:0004311	Abnormal macrophage morphology	4688	NCF2	OMIM:233710
HP:0004311	Abnormal macrophage morphology	1536	CYBB	OMIM:306400
HP:0004311	Abnormal macrophage morphology	653361	NCF1	OMIM:233700
HP:0004311	Abnormal macrophage morphology	1535	CYBA	OMIM:233690
HP:0004311	Abnormal macrophage morphology	1493	CTLA4	ORPHA:900
HP:0004311	Abnormal macrophage morphology	26191	PTPN22	ORPHA:900
HP:0004311	Abnormal macrophage morphology	3115	HLA-DPB1	ORPHA:900
HP:0004311	Abnormal macrophage morphology	5657	PRTN3	ORPHA:900
HP:0004311	Abnormal macrophage morphology	3113	HLA-DPA1	ORPHA:900
HP:0004311	Abnormal macrophage morphology	6445	SGCG	ORPHA:353
HP:0004311	Abnormal macrophage morphology	219285	SAMD9L	ORPHA:2585
HP:0004311	Abnormal macrophage morphology	3988	LIPA	OMIM:278000
HP:0004311	Abnormal macrophage morphology	3988	LIPA	ORPHA:75233
HP:0004311	Abnormal macrophage morphology	4758	NEU1	OMIM:256550
HP:0004311	Abnormal macrophage morphology	9056	SLC7A7	ORPHA:470
HP:0004311	Abnormal macrophage morphology	9056	SLC7A7	OMIM:222700
HP:0004311	Abnormal macrophage morphology	201294	UNC13D	OMIM:608898
HP:0004311	Abnormal macrophage morphology	201294	UNC13D	ORPHA:540
HP:0004311	Abnormal macrophage morphology	5873	RAB27A	OMIM:607624
HP:0004311	Abnormal macrophage morphology	5873	RAB27A	ORPHA:79477
HP:0004311	Abnormal macrophage morphology	84868	HAVCR2	ORPHA:86884
HP:0004311	Abnormal macrophage morphology	84868	HAVCR2	OMIM:618398
HP:0004311	Abnormal macrophage morphology	3702	ITK	OMIM:613011
HP:0004311	Abnormal macrophage morphology	331	XIAP	OMIM:300635
HP:0004311	Abnormal macrophage morphology	331	XIAP	OMIM:308240
HP:0004311	Abnormal macrophage morphology	1777	DNASE2	OMIM:619858
HP:0004311	Abnormal macrophage morphology	10019	SH2B3	OMIM:254450
HP:0004311	Abnormal macrophage morphology	811	CALR	OMIM:254450
HP:0004311	Abnormal macrophage morphology	3717	JAK2	OMIM:254450
HP:0004311	Abnormal macrophage morphology	4352	MPL	OMIM:254450
HP:0004311	Abnormal macrophage morphology	3458	IFNG	OMIM:618963
HP:0004311	Abnormal macrophage morphology	51311	TLR8	OMIM:301078
HP:0004311	Abnormal macrophage morphology	1130	LYST	ORPHA:167
HP:0004311	Abnormal macrophage morphology	1130	LYST	OMIM:214500
HP:0004311	Abnormal macrophage morphology	5551	PRF1	ORPHA:540
HP:0004311	Abnormal macrophage morphology	5551	PRF1	OMIM:603553
HP:0004311	Abnormal macrophage morphology	8676	STX11	ORPHA:540
HP:0004311	Abnormal macrophage morphology	8676	STX11	OMIM:603552
HP:0004311	Abnormal macrophage morphology	6813	STXBP2	ORPHA:540
HP:0004311	Abnormal macrophage morphology	6813	STXBP2	OMIM:613101
HP:0004311	Abnormal macrophage morphology	57169	ZNFX1	OMIM:619644
HP:0004311	Abnormal macrophage morphology	939	CD27	OMIM:615122
HP:0004311	Abnormal macrophage morphology	5294	PIK3CG	OMIM:619802
HP:0004311	Abnormal macrophage morphology	4068	SH2D1A	OMIM:308240
HP:0004311	Abnormal macrophage morphology	868	CBLB	OMIM:620430
HP:0004311	Abnormal macrophage morphology	427	ASAH1	OMIM:228000
HP:0004311	Abnormal macrophage morphology	3459	IFNGR1	OMIM:209950
HP:0004311	Abnormal macrophage morphology	55315	SLC29A3	OMIM:602782
HP:0004311	Abnormal macrophage morphology	55315	SLC29A3	ORPHA:168569
HP:0004311	Abnormal macrophage morphology	2859	GPR35	ORPHA:171
HP:0004311	Abnormal macrophage morphology	10507	SEMA4D	ORPHA:171
HP:0004311	Abnormal macrophage morphology	4485	MST1	ORPHA:171
HP:0004311	Abnormal macrophage morphology	6925	TCF4	ORPHA:171
HP:0004309	Ventricular preexcitation	4574	MT-TS1	OMIM:540000
HP:0004309	Ventricular preexcitation	4574	MT-TS1	ORPHA:550
HP:0004309	Ventricular preexcitation	4575	MT-TS2	OMIM:540000
HP:0004309	Ventricular preexcitation	4575	MT-TS2	ORPHA:550
HP:0004309	Ventricular preexcitation	4567	MT-TL1	OMIM:540000
HP:0004309	Ventricular preexcitation	4567	MT-TL1	ORPHA:550
HP:0004309	Ventricular preexcitation	4513	MT-CO2	OMIM:540000
HP:0004309	Ventricular preexcitation	4513	MT-CO2	ORPHA:550
HP:0004309	Ventricular preexcitation	4511	MT-TC	OMIM:540000
HP:0004309	Ventricular preexcitation	4572	MT-TQ	OMIM:540000
HP:0004309	Ventricular preexcitation	4572	MT-TQ	ORPHA:550
HP:0004309	Ventricular preexcitation	4577	MT-TV	OMIM:540000
HP:0004309	Ventricular preexcitation	4578	MT-TW	OMIM:540000
HP:0004309	Ventricular preexcitation	4578	MT-TW	ORPHA:550
HP:0004309	Ventricular preexcitation	4558	MT-TF	OMIM:540000
HP:0004309	Ventricular preexcitation	4558	MT-TF	ORPHA:550
HP:0004309	Ventricular preexcitation	4566	MT-TK	OMIM:540000
HP:0004309	Ventricular preexcitation	4564	MT-TH	ORPHA:550
HP:0004309	Ventricular preexcitation	650	BMP2	ORPHA:261295
HP:0004309	Ventricular preexcitation	51103	NDUFAF1	OMIM:618234
HP:0004309	Ventricular preexcitation	478	ATP1A3	OMIM:601338
HP:0004309	Ventricular preexcitation	63931	MRPS14	OMIM:618378
HP:0004309	Ventricular preexcitation	3714	JAG2	OMIM:619566
HP:0004309	Ventricular preexcitation	3920	LAMP2	OMIM:300257
HP:0004309	Ventricular preexcitation	7137	TNNI3	OMIM:613690
HP:0004309	Ventricular preexcitation	3458	IFNG	OMIM:613254
HP:0004309	Ventricular preexcitation	7249	TSC2	OMIM:613254
HP:0004309	Ventricular preexcitation	96459	FNIP1	OMIM:619705
HP:0004309	Ventricular preexcitation	2548	GAA	OMIM:232300
HP:0004309	Ventricular preexcitation	7248	TSC1	OMIM:191100
HP:0004309	Ventricular preexcitation	123263	MTFMT	OMIM:614947
HP:0004309	Ventricular preexcitation	8557	TCAP	OMIM:607487
HP:0004309	Ventricular preexcitation	84705	GTPBP3	ORPHA:444013
HP:0004309	Ventricular preexcitation	51422	PRKAG2	OMIM:194200
HP:0004309	Ventricular preexcitation	51422	PRKAG2	OMIM:600858
HP:0004309	Ventricular preexcitation	84277	DNAJC30	ORPHA:104
HP:0004309	Ventricular preexcitation	4535	MT-ND1	ORPHA:104
HP:0004309	Ventricular preexcitation	4536	MT-ND2	ORPHA:104
HP:0004309	Ventricular preexcitation	4538	MT-ND4	ORPHA:104
HP:0004309	Ventricular preexcitation	4720	NDUFS2	ORPHA:104
HP:0004309	Ventricular preexcitation	4512	MT-CO1	ORPHA:104
HP:0004309	Ventricular preexcitation	4514	MT-CO3	ORPHA:104
HP:0004309	Ventricular preexcitation	4519	MT-CYB	ORPHA:104
HP:0004309	Ventricular preexcitation	4508	MT-ATP6	ORPHA:104
HP:0004309	Ventricular preexcitation	4540	MT-ND5	ORPHA:104
HP:0004309	Ventricular preexcitation	4541	MT-ND6	ORPHA:104
HP:0004309	Ventricular preexcitation	4539	MT-ND4L	ORPHA:104
HP:0004308	Ventricular arrhythmia	4633	MYL2	OMIM:608758
HP:0004308	Ventricular arrhythmia	51422	PRKAG2	OMIM:261740
HP:0004308	Ventricular arrhythmia	4607	MYBPC3	OMIM:115197
HP:0004308	Ventricular arrhythmia	54539	NDUFB11	OMIM:300952
HP:0004308	Ventricular arrhythmia	253017	TECRL	OMIM:614021
HP:0004308	Ventricular arrhythmia	253017	TECRL	ORPHA:3286
HP:0004308	Ventricular arrhythmia	845	CASQ2	ORPHA:3286
HP:0004308	Ventricular arrhythmia	6262	RYR2	ORPHA:3286
HP:0004308	Ventricular arrhythmia	6262	RYR2	OMIM:115000
HP:0004308	Ventricular arrhythmia	4634	MYL3	OMIM:608751
HP:0004308	Ventricular arrhythmia	100134444	KCNJ18	ORPHA:79102
HP:0004308	Ventricular arrhythmia	2556	GABRA3	ORPHA:79102
HP:0004308	Ventricular arrhythmia	779	CACNA1S	ORPHA:79102
HP:0004308	Ventricular arrhythmia	37	ACADVL	ORPHA:26793
HP:0004308	Ventricular arrhythmia	1717	DHCR7	OMIM:270400
HP:0004308	Ventricular arrhythmia	2992	GYG1	ORPHA:263297
HP:0004308	Ventricular arrhythmia	2992	GYG1	OMIM:613507
HP:0004308	Ventricular arrhythmia	7134	TNNC1	OMIM:613243
HP:0004308	Ventricular arrhythmia	144245	ALG10B	OMIM:613688
HP:0004308	Ventricular arrhythmia	128989	TANGO2	OMIM:616878
HP:0004308	Ventricular arrhythmia	9529	BAG5	OMIM:619747
HP:0004308	Ventricular arrhythmia	1804	DPP6	OMIM:612956
HP:0004308	Ventricular arrhythmia	1188	CLCNKB	ORPHA:358
HP:0004308	Ventricular arrhythmia	6559	SLC12A3	ORPHA:358
HP:0004308	Ventricular arrhythmia	1832	DSP	OMIM:607450
HP:0004308	Ventricular arrhythmia	8260	NAA10	OMIM:300855
HP:0004308	Ventricular arrhythmia	4574	MT-TS1	OMIM:540000
HP:0004308	Ventricular arrhythmia	4574	MT-TS1	ORPHA:550
HP:0004308	Ventricular arrhythmia	4575	MT-TS2	OMIM:540000
HP:0004308	Ventricular arrhythmia	4575	MT-TS2	ORPHA:550
HP:0004308	Ventricular arrhythmia	4567	MT-TL1	OMIM:540000
HP:0004308	Ventricular arrhythmia	4567	MT-TL1	ORPHA:550
HP:0004308	Ventricular arrhythmia	4513	MT-CO2	OMIM:540000
HP:0004308	Ventricular arrhythmia	4513	MT-CO2	ORPHA:550
HP:0004308	Ventricular arrhythmia	4511	MT-TC	OMIM:540000
HP:0004308	Ventricular arrhythmia	4572	MT-TQ	OMIM:540000
HP:0004308	Ventricular arrhythmia	4572	MT-TQ	ORPHA:550
HP:0004308	Ventricular arrhythmia	4577	MT-TV	OMIM:540000
HP:0004308	Ventricular arrhythmia	4578	MT-TW	OMIM:540000
HP:0004308	Ventricular arrhythmia	4578	MT-TW	ORPHA:550
HP:0004308	Ventricular arrhythmia	4558	MT-TF	OMIM:540000
HP:0004308	Ventricular arrhythmia	4558	MT-TF	ORPHA:550
HP:0004308	Ventricular arrhythmia	4566	MT-TK	OMIM:540000
HP:0004308	Ventricular arrhythmia	4564	MT-TH	ORPHA:550
HP:0004308	Ventricular arrhythmia	650	BMP2	ORPHA:261295
HP:0004308	Ventricular arrhythmia	51103	NDUFAF1	OMIM:618234
HP:0004308	Ventricular arrhythmia	478	ATP1A3	OMIM:601338
HP:0004308	Ventricular arrhythmia	63931	MRPS14	OMIM:618378
HP:0004308	Ventricular arrhythmia	3714	JAG2	OMIM:619566
HP:0004308	Ventricular arrhythmia	3920	LAMP2	OMIM:300257
HP:0004308	Ventricular arrhythmia	7137	TNNI3	OMIM:613690
HP:0004308	Ventricular arrhythmia	3458	IFNG	OMIM:613254
HP:0004308	Ventricular arrhythmia	7249	TSC2	OMIM:613254
HP:0004308	Ventricular arrhythmia	96459	FNIP1	OMIM:619705
HP:0004308	Ventricular arrhythmia	2548	GAA	OMIM:232300
HP:0004308	Ventricular arrhythmia	7248	TSC1	OMIM:191100
HP:0004308	Ventricular arrhythmia	123263	MTFMT	OMIM:614947
HP:0004308	Ventricular arrhythmia	8557	TCAP	OMIM:607487
HP:0004308	Ventricular arrhythmia	84705	GTPBP3	ORPHA:444013
HP:0004308	Ventricular arrhythmia	291	SLC25A4	ORPHA:254892
HP:0004308	Ventricular arrhythmia	5428	POLG	ORPHA:254892
HP:0004308	Ventricular arrhythmia	56652	TWNK	ORPHA:254892
HP:0004308	Ventricular arrhythmia	11232	POLG2	ORPHA:254892
HP:0004308	Ventricular arrhythmia	50484	RRM2B	ORPHA:254892
HP:0004308	Ventricular arrhythmia	801	CALM1	ORPHA:101016
HP:0004308	Ventricular arrhythmia	3753	KCNE1	ORPHA:101016
HP:0004308	Ventricular arrhythmia	3762	KCNJ5	ORPHA:101016
HP:0004308	Ventricular arrhythmia	3762	KCNJ5	ORPHA:37553
HP:0004308	Ventricular arrhythmia	805	CALM2	ORPHA:101016
HP:0004308	Ventricular arrhythmia	6910	TBX5	ORPHA:101016
HP:0004308	Ventricular arrhythmia	6336	SCN10A	ORPHA:101016
HP:0004308	Ventricular arrhythmia	6336	SCN10A	ORPHA:130
HP:0004308	Ventricular arrhythmia	3757	KCNH2	ORPHA:101016
HP:0004308	Ventricular arrhythmia	3757	KCNH2	ORPHA:51083
HP:0004308	Ventricular arrhythmia	9992	KCNE2	ORPHA:101016
HP:0004308	Ventricular arrhythmia	10142	AKAP9	ORPHA:101016
HP:0004308	Ventricular arrhythmia	10142	AKAP9	ORPHA:130
HP:0004308	Ventricular arrhythmia	9722	NOS1AP	ORPHA:101016
HP:0004308	Ventricular arrhythmia	775	CACNA1C	ORPHA:101016
HP:0004308	Ventricular arrhythmia	775	CACNA1C	ORPHA:130
HP:0004308	Ventricular arrhythmia	775	CACNA1C	OMIM:611875
HP:0004308	Ventricular arrhythmia	3784	KCNQ1	ORPHA:101016
HP:0004308	Ventricular arrhythmia	3784	KCNQ1	ORPHA:51083
HP:0004308	Ventricular arrhythmia	10345	TRDN	ORPHA:101016
HP:0004308	Ventricular arrhythmia	6331	SCN5A	ORPHA:101016
HP:0004308	Ventricular arrhythmia	6331	SCN5A	ORPHA:130
HP:0004308	Ventricular arrhythmia	6330	SCN4B	ORPHA:101016
HP:0004308	Ventricular arrhythmia	808	CALM3	ORPHA:101016
HP:0004308	Ventricular arrhythmia	6640	SNTA1	ORPHA:101016
HP:0004308	Ventricular arrhythmia	859	CAV3	ORPHA:101016
HP:0004308	Ventricular arrhythmia	859	CAV3	OMIM:611818
HP:0004308	Ventricular arrhythmia	287	ANK2	ORPHA:101016
HP:0004308	Ventricular arrhythmia	4000	LMNA	ORPHA:280365
HP:0004308	Ventricular arrhythmia	4000	LMNA	ORPHA:300751
HP:0004308	Ventricular arrhythmia	4000	LMNA	OMIM:181350
HP:0004308	Ventricular arrhythmia	4000	LMNA	OMIM:115200
HP:0004308	Ventricular arrhythmia	23630	KCNE5	ORPHA:130
HP:0004308	Ventricular arrhythmia	10371	SEMA3A	ORPHA:130
HP:0004308	Ventricular arrhythmia	54795	TRPM4	ORPHA:130
HP:0004308	Ventricular arrhythmia	10021	HCN4	ORPHA:130
HP:0004308	Ventricular arrhythmia	3764	KCNJ8	ORPHA:130
HP:0004308	Ventricular arrhythmia	3752	KCND3	ORPHA:130
HP:0004308	Ventricular arrhythmia	5318	PKP2	ORPHA:130
HP:0004308	Ventricular arrhythmia	7871	SLMAP	ORPHA:130
HP:0004308	Ventricular arrhythmia	10060	ABCC9	ORPHA:130
HP:0004308	Ventricular arrhythmia	29098	RANGRF	ORPHA:130
HP:0004308	Ventricular arrhythmia	10008	KCNE3	ORPHA:130
HP:0004308	Ventricular arrhythmia	55800	SCN3B	ORPHA:130
HP:0004308	Ventricular arrhythmia	783	CACNB2	ORPHA:130
HP:0004308	Ventricular arrhythmia	6337	SCNN1A	ORPHA:130
HP:0004308	Ventricular arrhythmia	6327	SCN2B	ORPHA:130
HP:0004308	Ventricular arrhythmia	781	CACNA2D1	ORPHA:130
HP:0004308	Ventricular arrhythmia	781	CACNA2D1	ORPHA:51083
HP:0004308	Ventricular arrhythmia	6324	SCN1B	ORPHA:130
HP:0004308	Ventricular arrhythmia	23171	GPD1L	ORPHA:130
HP:0004308	Ventricular arrhythmia	5350	PLN	OMIM:609909
HP:0004308	Ventricular arrhythmia	5894	RAF1	OMIM:615916
HP:0004308	Ventricular arrhythmia	7043	TGFB3	OMIM:107970
HP:0004308	Ventricular arrhythmia	1837	DTNA	OMIM:604169
HP:0004308	Ventricular arrhythmia	3728	JUP	OMIM:601214
HP:0004308	Ventricular arrhythmia	3728	JUP	OMIM:611528
HP:0004308	Ventricular arrhythmia	5277	PIGA	OMIM:300868
HP:0004308	Ventricular arrhythmia	1829	DSG2	OMIM:610193
HP:0004308	Ventricular arrhythmia	64072	CDH23	ORPHA:91347
HP:0004308	Ventricular arrhythmia	70	ACTC1	OMIM:613424
HP:0004308	Ventricular arrhythmia	1824	DSC2	OMIM:610476
HP:0004308	Ventricular arrhythmia	4625	MYH7	OMIM:613426
HP:0004308	Ventricular arrhythmia	3759	KCNJ2	ORPHA:51083
HP:0004308	Ventricular arrhythmia	3759	KCNJ2	ORPHA:37553
HP:0004308	Ventricular arrhythmia	6508	SLC4A3	ORPHA:51083
HP:0004308	Ventricular arrhythmia	60	ACTB	OMIM:620475
HP:0004308	Ventricular arrhythmia	11155	LDB3	OMIM:601493
HP:0004308	Ventricular arrhythmia	84277	DNAJC30	ORPHA:104
HP:0004308	Ventricular arrhythmia	4535	MT-ND1	ORPHA:104
HP:0004308	Ventricular arrhythmia	4536	MT-ND2	ORPHA:104
HP:0004308	Ventricular arrhythmia	4538	MT-ND4	ORPHA:104
HP:0004308	Ventricular arrhythmia	4720	NDUFS2	ORPHA:104
HP:0004308	Ventricular arrhythmia	4512	MT-CO1	ORPHA:104
HP:0004308	Ventricular arrhythmia	4514	MT-CO3	ORPHA:104
HP:0004308	Ventricular arrhythmia	4519	MT-CYB	ORPHA:104
HP:0004308	Ventricular arrhythmia	4508	MT-ATP6	ORPHA:104
HP:0004308	Ventricular arrhythmia	4540	MT-ND5	ORPHA:104
HP:0004308	Ventricular arrhythmia	4541	MT-ND6	ORPHA:104
HP:0004308	Ventricular arrhythmia	4539	MT-ND4L	ORPHA:104
HP:0004308	Ventricular arrhythmia	4878	NPPA	ORPHA:1344
HP:0004308	Ventricular arrhythmia	2702	GJA5	OMIM:108770
HP:0004308	Ventricular arrhythmia	10681	GNB5	ORPHA:542306
HP:0004308	Ventricular arrhythmia	151648	SGO1	OMIM:616201
HP:0004308	Ventricular arrhythmia	2273	FHL1	ORPHA:98863
HP:0004308	Ventricular arrhythmia	2010	EMD	ORPHA:98863
HP:0004308	Ventricular arrhythmia	79188	TMEM43	ORPHA:98853
HP:0004308	Ventricular arrhythmia	23345	SYNE1	ORPHA:98853
HP:0004308	Ventricular arrhythmia	23224	SYNE2	ORPHA:98853
HP:0004308	Ventricular arrhythmia	4784	NFIX	OMIM:602535
HP:0004308	Ventricular arrhythmia	26092	TOR1AIP1	OMIM:617072
HP:0004308	Ventricular arrhythmia	9681	DEPDC5	OMIM:620504
HP:0004308	Ventricular arrhythmia	788	SLC25A20	OMIM:212138
HP:0004308	Ventricular arrhythmia	1000	CDH2	OMIM:618920
HP:0004308	Ventricular arrhythmia	7716	VEZF1	OMIM:620247
HP:0004308	Ventricular arrhythmia	6261	RYR1	ORPHA:423
HP:0004308	Ventricular arrhythmia	83475	DOHH	OMIM:620066
HP:0004308	Ventricular arrhythmia	7555	CNBP	OMIM:602668
HP:0004308	Ventricular arrhythmia	51086	TNNI3K	OMIM:616117
HP:0004308	Ventricular arrhythmia	10848	PPP1R13L	OMIM:620519
HP:0004307	Abnormal anatomic location of the heart	85016	CFAP300	OMIM:618063
HP:0004307	Abnormal anatomic location of the heart	7490	WT1	OMIM:608978
HP:0004307	Abnormal anatomic location of the heart	5311	PKD2	OMIM:613095
HP:0004307	Abnormal anatomic location of the heart	23241	PACS2	OMIM:618067
HP:0004307	Abnormal anatomic location of the heart	55329	MNS1	OMIM:618948
HP:0004307	Abnormal anatomic location of the heart	25981	DNAH1	OMIM:617577
HP:0004307	Abnormal anatomic location of the heart	54585	LZTFL1	OMIM:615994
HP:0004307	Abnormal anatomic location of the heart	6091	ROBO1	OMIM:620305
HP:0004307	Abnormal anatomic location of the heart	4838	NODAL	OMIM:270100
HP:0004307	Abnormal anatomic location of the heart	54880	BCOR	OMIM:300166
HP:0004307	Abnormal anatomic location of the heart	7547	ZIC3	OMIM:314390
HP:0004307	Abnormal anatomic location of the heart	7547	ZIC3	OMIM:306955
HP:0004307	Abnormal anatomic location of the heart	2187	FANCB	OMIM:314390
HP:0004307	Abnormal anatomic location of the heart	161582	DNAAF4	OMIM:615482
HP:0004307	Abnormal anatomic location of the heart	146845	CFAP52	OMIM:619607
HP:0004307	Abnormal anatomic location of the heart	51364	ZMYND10	OMIM:615444
HP:0004307	Abnormal anatomic location of the heart	55788	LMBRD1	OMIM:277380
HP:0004307	Abnormal anatomic location of the heart	388389	DNAAF19	OMIM:614679
HP:0004307	Abnormal anatomic location of the heart	8701	DNAH11	OMIM:611884
HP:0004307	Abnormal anatomic location of the heart	54806	AHI1	ORPHA:220493
HP:0004307	Abnormal anatomic location of the heart	56623	INPP5E	ORPHA:220493
HP:0004307	Abnormal anatomic location of the heart	153241	CEP120	ORPHA:220493
HP:0004307	Abnormal anatomic location of the heart	54903	MKS1	ORPHA:220493
HP:0004307	Abnormal anatomic location of the heart	95681	CEP41	ORPHA:220493
HP:0004307	Abnormal anatomic location of the heart	55997	CFC1	OMIM:605376
HP:0004307	Abnormal anatomic location of the heart	745	MYRF	OMIM:618280
HP:0004307	Abnormal anatomic location of the heart	2626	GATA4	OMIM:607941
HP:0004307	Abnormal anatomic location of the heart	78987	CRELD1	OMIM:606217
HP:0004307	Abnormal anatomic location of the heart	79989	IFT56	OMIM:619534
HP:0004307	Abnormal anatomic location of the heart	23483	TGDS	OMIM:616145
HP:0004307	Abnormal anatomic location of the heart	2657	GDF1	OMIM:208530
HP:0004307	Abnormal anatomic location of the heart	93	ACVR2B	OMIM:613751
HP:0004307	Abnormal anatomic location of the heart	4000	LMNA	ORPHA:1662
HP:0004307	Abnormal anatomic location of the heart	10269	ZMPSTE24	ORPHA:1662
HP:0004307	Abnormal anatomic location of the heart	4087	SMAD2	OMIM:619657
HP:0004307	Abnormal anatomic location of the heart	118856	MMP21	OMIM:616749
HP:0004307	Abnormal anatomic location of the heart	1000	CDH2	OMIM:618929
HP:0004307	Abnormal anatomic location of the heart	197131	UBR1	ORPHA:2315
HP:0004307	Abnormal anatomic location of the heart	5566	PRKACA	ORPHA:289
HP:0004307	Abnormal anatomic location of the heart	5567	PRKACB	ORPHA:289
HP:0004307	Abnormal anatomic location of the heart	2735	GLI1	ORPHA:289
HP:0004307	Abnormal anatomic location of the heart	2121	EVC	ORPHA:289
HP:0004307	Abnormal anatomic location of the heart	51626	DYNC2LI1	ORPHA:289
HP:0004307	Abnormal anatomic location of the heart	132884	EVC2	ORPHA:289
HP:0004307	Abnormal anatomic location of the heart	25970	SH2B1	ORPHA:261197
HP:0004307	Abnormal anatomic location of the heart	93233	ODAD1	OMIM:615067
HP:0004307	Abnormal anatomic location of the heart	115399	LRRC56	OMIM:618254
HP:0004307	Abnormal anatomic location of the heart	168507	PKD1L1	OMIM:617205
HP:0004307	Abnormal anatomic location of the heart	84667	HES7	OMIM:613686
HP:0004307	Abnormal anatomic location of the heart	115948	ODAD3	OMIM:616037
HP:0004307	Abnormal anatomic location of the heart	1954	MEGF8	OMIM:614976
HP:0004307	Abnormal anatomic location of the heart	220136	CFAP53	OMIM:614779
HP:0004307	Abnormal anatomic location of the heart	80781	COL18A1	ORPHA:1571
HP:0004307	Abnormal anatomic location of the heart	5062	PAK2	ORPHA:1571
HP:0004307	Abnormal anatomic location of the heart	100128908	CIROP	OMIM:619702
HP:0004307	Abnormal anatomic location of the heart	352909	DNAAF3	OMIM:606763
HP:0004307	Abnormal anatomic location of the heart	27019	DNAI1	OMIM:244400
HP:0004307	Abnormal anatomic location of the heart	27019	DNAI1	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	9851	KIAA0753	ORPHA:475
HP:0004307	Abnormal anatomic location of the heart	5147	PDE6D	ORPHA:475
HP:0004307	Abnormal anatomic location of the heart	79600	TCTN1	ORPHA:475
HP:0004307	Abnormal anatomic location of the heart	79600	TCTN1	ORPHA:564
HP:0004307	Abnormal anatomic location of the heart	79848	CSPP1	ORPHA:475
HP:0004307	Abnormal anatomic location of the heart	79848	CSPP1	ORPHA:564
HP:0004307	Abnormal anatomic location of the heart	8481	OFD1	ORPHA:475
HP:0004307	Abnormal anatomic location of the heart	8481	OFD1	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	51684	SUFU	ORPHA:475
HP:0004307	Abnormal anatomic location of the heart	65250	CPLANE1	ORPHA:475
HP:0004307	Abnormal anatomic location of the heart	91147	TMEM67	ORPHA:475
HP:0004307	Abnormal anatomic location of the heart	91147	TMEM67	ORPHA:564
HP:0004307	Abnormal anatomic location of the heart	200894	ARL13B	ORPHA:475
HP:0004307	Abnormal anatomic location of the heart	9731	CEP104	ORPHA:475
HP:0004307	Abnormal anatomic location of the heart	219844	HYLS1	ORPHA:475
HP:0004307	Abnormal anatomic location of the heart	23247	KATNIP	ORPHA:475
HP:0004307	Abnormal anatomic location of the heart	219854	TMEM218	ORPHA:475
HP:0004307	Abnormal anatomic location of the heart	9786	KIAA0586	ORPHA:475
HP:0004307	Abnormal anatomic location of the heart	26123	TCTN3	ORPHA:475
HP:0004307	Abnormal anatomic location of the heart	26123	TCTN3	ORPHA:564
HP:0004307	Abnormal anatomic location of the heart	79867	TCTN2	ORPHA:475
HP:0004307	Abnormal anatomic location of the heart	79867	TCTN2	ORPHA:564
HP:0004307	Abnormal anatomic location of the heart	80776	B9D2	ORPHA:475
HP:0004307	Abnormal anatomic location of the heart	80776	B9D2	ORPHA:564
HP:0004307	Abnormal anatomic location of the heart	10464	PIBF1	ORPHA:475
HP:0004307	Abnormal anatomic location of the heart	80210	ARMC9	ORPHA:475
HP:0004307	Abnormal anatomic location of the heart	23116	TOGARAM1	ORPHA:475
HP:0004307	Abnormal anatomic location of the heart	25776	CBY1	ORPHA:475
HP:0004307	Abnormal anatomic location of the heart	27077	B9D1	ORPHA:475
HP:0004307	Abnormal anatomic location of the heart	27077	B9D1	ORPHA:564
HP:0004307	Abnormal anatomic location of the heart	403	ARL3	ORPHA:475
HP:0004307	Abnormal anatomic location of the heart	80173	IFT74	ORPHA:475
HP:0004307	Abnormal anatomic location of the heart	65062	TMEM237	ORPHA:475
HP:0004307	Abnormal anatomic location of the heart	65062	TMEM237	ORPHA:564
HP:0004307	Abnormal anatomic location of the heart	139212	DNAAF6	OMIM:300991
HP:0004307	Abnormal anatomic location of the heart	139212	DNAAF6	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	5396	PRRX1	ORPHA:990
HP:0004307	Abnormal anatomic location of the heart	5396	PRRX1	OMIM:202650
HP:0004307	Abnormal anatomic location of the heart	5015	OTX2	ORPHA:990
HP:0004307	Abnormal anatomic location of the heart	83538	ODAD4	OMIM:617092
HP:0004307	Abnormal anatomic location of the heart	83538	ODAD4	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	1770	DNAH9	OMIM:618300
HP:0004307	Abnormal anatomic location of the heart	1770	DNAH9	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	83861	RSPH3	OMIM:616481
HP:0004307	Abnormal anatomic location of the heart	83861	RSPH3	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	23568	ARL2BP	OMIM:615434
HP:0004307	Abnormal anatomic location of the heart	10309	CCNO	OMIM:615872
HP:0004307	Abnormal anatomic location of the heart	10309	CCNO	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	64446	DNAI2	OMIM:612444
HP:0004307	Abnormal anatomic location of the heart	64446	DNAI2	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	4487	MSX1	ORPHA:199302
HP:0004307	Abnormal anatomic location of the heart	5818	NECTIN1	ORPHA:199302
HP:0004307	Abnormal anatomic location of the heart	8626	TP63	ORPHA:199302
HP:0004307	Abnormal anatomic location of the heart	3664	IRF6	ORPHA:199302
HP:0004307	Abnormal anatomic location of the heart	54768	HYDIN	OMIM:608647
HP:0004307	Abnormal anatomic location of the heart	54768	HYDIN	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	89765	RSPH1	OMIM:615481
HP:0004307	Abnormal anatomic location of the heart	89765	RSPH1	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	27031	NPHP3	OMIM:208540
HP:0004307	Abnormal anatomic location of the heart	27031	NPHP3	OMIM:267010
HP:0004307	Abnormal anatomic location of the heart	10991	SLC38A3	OMIM:619881
HP:0004307	Abnormal anatomic location of the heart	221421	RSPH9	OMIM:612650
HP:0004307	Abnormal anatomic location of the heart	221421	RSPH9	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	54919	DNAAF5	OMIM:614874
HP:0004307	Abnormal anatomic location of the heart	54919	DNAAF5	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	54014	BRWD1	OMIM:620438
HP:0004307	Abnormal anatomic location of the heart	25790	CFAP45	OMIM:619608
HP:0004307	Abnormal anatomic location of the heart	10126	DNAL4	OMIM:616059
HP:0004307	Abnormal anatomic location of the heart	25914	RTTN	OMIM:614833
HP:0004307	Abnormal anatomic location of the heart	1767	DNAH5	OMIM:608644
HP:0004307	Abnormal anatomic location of the heart	1767	DNAH5	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	85452	CFAP74	OMIM:620197
HP:0004307	Abnormal anatomic location of the heart	85452	CFAP74	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	8382	NME5	OMIM:620032
HP:0004307	Abnormal anatomic location of the heart	8382	NME5	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	10084	PQBP1	OMIM:309500
HP:0004307	Abnormal anatomic location of the heart	123872	DNAAF1	OMIM:613193
HP:0004307	Abnormal anatomic location of the heart	123872	DNAAF1	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	55130	ODAD2	OMIM:615451
HP:0004307	Abnormal anatomic location of the heart	55130	ODAD2	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	10560	SLC19A2	OMIM:249270
HP:0004307	Abnormal anatomic location of the heart	23090	ZNF423	OMIM:614844
HP:0004307	Abnormal anatomic location of the heart	284086	NEK8	OMIM:615415
HP:0004307	Abnormal anatomic location of the heart	79645	CLXN	OMIM:620642
HP:0004307	Abnormal anatomic location of the heart	27148	STK36	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	51314	NME8	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	92749	DRC1	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	54970	TTC12	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	152110	NEK10	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	2302	FOXJ1	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	85478	CCDC65	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	85478	CCDC65	OMIM:615504
HP:0004307	Abnormal anatomic location of the heart	55036	CCDC40	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	55036	CCDC40	OMIM:613808
HP:0004307	Abnormal anatomic location of the heart	6674	SPAG1	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	6674	SPAG1	OMIM:615505
HP:0004307	Abnormal anatomic location of the heart	83544	DNAL1	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	83544	DNAL1	OMIM:614017
HP:0004307	Abnormal anatomic location of the heart	200373	CFAP221	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	374407	DNAJB13	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	55172	DNAAF2	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	55172	DNAAF2	OMIM:612518
HP:0004307	Abnormal anatomic location of the heart	2622	GAS8	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	23639	DNAAF11	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	23639	DNAAF11	OMIM:614935
HP:0004307	Abnormal anatomic location of the heart	345895	RSPH4A	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	6103	RPGR	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	345643	MCIDAS	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	56683	CFAP298	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	56683	CFAP298	OMIM:615500
HP:0004307	Abnormal anatomic location of the heart	79925	SPEF2	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	339829	CCDC39	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	339829	CCDC39	OMIM:613807
HP:0004307	Abnormal anatomic location of the heart	246176	GAS2L2	ORPHA:244
HP:0004307	Abnormal anatomic location of the heart	84314	TMEM107	ORPHA:564
HP:0004307	Abnormal anatomic location of the heart	57096	RPGRIP1	ORPHA:564
HP:0004307	Abnormal anatomic location of the heart	80184	CEP290	ORPHA:564
HP:0004307	Abnormal anatomic location of the heart	51259	TMEM216	ORPHA:564
HP:0004307	Abnormal anatomic location of the heart	57545	CC2D2A	ORPHA:564
HP:0004307	Abnormal anatomic location of the heart	79583	TMEM231	ORPHA:564
HP:0004307	Abnormal anatomic location of the heart	79770	TXNDC15	ORPHA:564
HP:0004307	Abnormal anatomic location of the heart	23322	RPGRIP1L	ORPHA:564
HP:0004307	Abnormal anatomic location of the heart	203286	ANKS6	OMIM:615382
HP:0004307	Abnormal anatomic location of the heart	123016	TTC8	OMIM:615985
HP:0004307	Abnormal anatomic location of the heart	27130	INVS	OMIM:602088
HP:0004307	Abnormal anatomic location of the heart	164781	DAW1	OMIM:620570
HP:0004307	Abnormal anatomic location of the heart	63895	PIEZO2	ORPHA:2461
HP:0004307	Abnormal anatomic location of the heart	10847	SRCAP	ORPHA:2044
HP:0004307	Abnormal anatomic location of the heart	10847	SRCAP	OMIM:136140
HP:0004307	Abnormal anatomic location of the heart	7543	ZFX	OMIM:301118
HP:0004306	Abnormal endocardium morphology	6901	TAFAZZIN	ORPHA:111
HP:0004306	Abnormal endocardium morphology	6901	TAFAZZIN	OMIM:302060
HP:0004306	Abnormal endocardium morphology	2702	GJA5	OMIM:108770
HP:0004306	Abnormal endocardium morphology	57538	ALPK3	OMIM:618052
HP:0004306	Abnormal endocardium morphology	55388	MCM10	OMIM:619313
HP:0004306	Abnormal endocardium morphology	88	ACTN2	OMIM:612158
HP:0004306	Abnormal endocardium morphology	3425	IDUA	OMIM:607014
HP:0004306	Abnormal endocardium morphology	3425	IDUA	ORPHA:93473
HP:0004306	Abnormal endocardium morphology	8048	CSRP3	OMIM:607482
HP:0004306	Abnormal endocardium morphology	6584	SLC22A5	OMIM:212140
HP:0004306	Abnormal endocardium morphology	84818	IL17RC	ORPHA:1334
HP:0004306	Abnormal endocardium morphology	64581	CLEC7A	ORPHA:1334
HP:0004306	Abnormal endocardium morphology	23765	IL17RA	ORPHA:1334
HP:0004306	Abnormal endocardium morphology	10758	TRAF3IP2	ORPHA:1334
HP:0004306	Abnormal endocardium morphology	112744	IL17F	ORPHA:1334
HP:0004306	Abnormal endocardium morphology	4625	MYH7	ORPHA:1880
HP:0004306	Abnormal endocardium morphology	6804	STX1A	ORPHA:904
HP:0004306	Abnormal endocardium morphology	7461	CLIP2	ORPHA:904
HP:0004306	Abnormal endocardium morphology	84277	DNAJC30	ORPHA:904
HP:0004306	Abnormal endocardium morphology	8468	FKBP6	ORPHA:904
HP:0004306	Abnormal endocardium morphology	5982	RFC2	ORPHA:904
HP:0004306	Abnormal endocardium morphology	2969	GTF2I	ORPHA:904
HP:0004306	Abnormal endocardium morphology	3984	LIMK1	ORPHA:904
HP:0004306	Abnormal endocardium morphology	9569	GTF2IRD1	ORPHA:904
HP:0004306	Abnormal endocardium morphology	155382	VPS37D	ORPHA:904
HP:0004306	Abnormal endocardium morphology	155368	METTL27	ORPHA:904
HP:0004306	Abnormal endocardium morphology	114049	BUD23	ORPHA:904
HP:0004306	Abnormal endocardium morphology	7458	EIF4H	ORPHA:904
HP:0004306	Abnormal endocardium morphology	84163	GTF2IRD2	ORPHA:904
HP:0004306	Abnormal endocardium morphology	26608	TBL2	ORPHA:904
HP:0004306	Abnormal endocardium morphology	653361	NCF1	ORPHA:904
HP:0004306	Abnormal endocardium morphology	135886	TMEM270	ORPHA:904
HP:0004306	Abnormal endocardium morphology	9031	BAZ1B	ORPHA:904
HP:0004306	Abnormal endocardium morphology	2006	ELN	ORPHA:904
HP:0004306	Abnormal endocardium morphology	5167	ENPP1	ORPHA:758
HP:0004306	Abnormal endocardium morphology	368	ABCC6	ORPHA:758
HP:0004306	Abnormal endocardium morphology	3593	IL12B	ORPHA:3287
HP:0004306	Abnormal endocardium morphology	3106	HLA-B	ORPHA:3287
HP:0004306	Abnormal endocardium morphology	6945	MLX	ORPHA:3287
HP:0004306	Abnormal endocardium morphology	2717	GLA	ORPHA:324
HP:0004306	Abnormal endocardium morphology	5781	PTPN11	ORPHA:500
HP:0004306	Abnormal endocardium morphology	673	BRAF	ORPHA:500
HP:0004306	Abnormal endocardium morphology	5894	RAF1	ORPHA:500
HP:0004306	Abnormal endocardium morphology	7414	VCL	OMIM:613255
HP:0004306	Abnormal endocardium morphology	3431	SP110	OMIM:235550
HP:0004306	Abnormal endocardium morphology	5156	PDGFRA	OMIM:607685
HP:0004306	Abnormal endocardium morphology	4634	MYL3	OMIM:608751
HP:0004306	Abnormal endocardium morphology	11155	LDB3	OMIM:601493
HP:0004306	Abnormal endocardium morphology	2629	GBA1	ORPHA:2072
HP:0004306	Abnormal endocardium morphology	5573	PRKAR1A	ORPHA:615
HP:0004306	Abnormal endocardium morphology	5573	PRKAR1A	OMIM:255960
HP:0004306	Abnormal endocardium morphology	51816	ADA2	ORPHA:820
HP:0004306	Abnormal endocardium morphology	149233	IL23R	ORPHA:117
HP:0004306	Abnormal endocardium morphology	6775	STAT4	ORPHA:117
HP:0004306	Abnormal endocardium morphology	3586	IL10	ORPHA:117
HP:0004306	Abnormal endocardium morphology	4210	MEFV	ORPHA:117
HP:0004306	Abnormal endocardium morphology	1230	CCR1	ORPHA:117
HP:0004306	Abnormal endocardium morphology	355	FAS	ORPHA:117
HP:0004306	Abnormal endocardium morphology	3592	IL12A	ORPHA:117
HP:0004306	Abnormal endocardium morphology	101928376	IL12A-AS1	ORPHA:117
HP:0004306	Abnormal endocardium morphology	7099	TLR4	ORPHA:117
HP:0004306	Abnormal endocardium morphology	3459	IFNGR1	ORPHA:117
HP:0004306	Abnormal endocardium morphology	720	C4A	ORPHA:117
HP:0004306	Abnormal endocardium morphology	337867	UBAC2	ORPHA:117
HP:0004306	Abnormal endocardium morphology	51752	ERAP1	ORPHA:117
HP:0004306	Abnormal endocardium morphology	8302	KLRC4	ORPHA:117
HP:0009183	Joint contracture of the 5th finger	55315	SLC29A3	OMIM:602782
HP:0009183	Joint contracture of the 5th finger	51114	ZDHHC9	OMIM:300799
HP:0009183	Joint contracture of the 5th finger	10664	CTCF	ORPHA:363611
HP:0009183	Joint contracture of the 5th finger	26053	AUTS2	ORPHA:352490
HP:0009183	Joint contracture of the 5th finger	219854	TMEM218	OMIM:619562
HP:0009183	Joint contracture of the 5th finger	23291	FBXW11	OMIM:618914
HP:0009183	Joint contracture of the 5th finger	79912	PYROXD1	OMIM:617258
HP:0009183	Joint contracture of the 5th finger	9757	KMT2B	OMIM:619934
HP:0009183	Joint contracture of the 5th finger	2697	GJA1	OMIM:164200
HP:0009183	Joint contracture of the 5th finger	3720	JARID2	OMIM:620098
HP:0009183	Joint contracture of the 5th finger	10765	KDM5B	OMIM:618109
HP:0009183	Joint contracture of the 5th finger	9487	PIGL	OMIM:280000
HP:0009183	Joint contracture of the 5th finger	3239	HOXD13	OMIM:186000
HP:0009183	Joint contracture of the 5th finger	3977	LIFR	OMIM:601559
HP:0009183	Joint contracture of the 5th finger	10093	ARPC4	OMIM:620141
HP:0001187	Hyperextensibility of the finger joints	6197	RPS6KA3	OMIM:303600
HP:0001187	Hyperextensibility of the finger joints	9791	PTDSS1	OMIM:151050
HP:0001187	Hyperextensibility of the finger joints	2245	FGD1	OMIM:305400
HP:0001187	Hyperextensibility of the finger joints	9759	HDAC4	OMIM:619797
HP:0001187	Hyperextensibility of the finger joints	3756	KCNH1	OMIM:135500
HP:0001187	Hyperextensibility of the finger joints	57479	PRR12	OMIM:619539
HP:0001187	Hyperextensibility of the finger joints	6611	SMS	OMIM:309583
HP:0001187	Hyperextensibility of the finger joints	673	BRAF	OMIM:115150
HP:0001187	Hyperextensibility of the finger joints	91461	PKDCC	OMIM:618821
HP:0001187	Hyperextensibility of the finger joints	9968	MED12	OMIM:309520
HP:0001187	Hyperextensibility of the finger joints	92344	GORAB	OMIM:231070
HP:0001187	Hyperextensibility of the finger joints	54499	TMCO1	OMIM:213980
HP:0001187	Hyperextensibility of the finger joints	387733	IFITM5	OMIM:610967
HP:0001187	Hyperextensibility of the finger joints	51633	OTUD6B	ORPHA:505237
HP:0001187	Hyperextensibility of the finger joints	23114	NFASC	OMIM:618356
HP:0001187	Hyperextensibility of the finger joints	1289	COL5A1	OMIM:130000
HP:0001187	Hyperextensibility of the finger joints	7543	ZFX	OMIM:301118
HP:0001187	Hyperextensibility of the finger joints	54872	PIGG	ORPHA:488635
HP:0001187	Hyperextensibility of the finger joints	1278	COL1A2	OMIM:617821
HP:0001187	Hyperextensibility of the finger joints	427	ASAH1	OMIM:228000
HP:0001187	Hyperextensibility of the finger joints	9373	PLAA	ORPHA:521426
HP:0001187	Hyperextensibility of the finger joints	2783	GNB2	OMIM:619503
HP:0001187	Hyperextensibility of the finger joints	3265	HRAS	OMIM:218040
HP:0001187	Hyperextensibility of the finger joints	2200	FBN1	OMIM:616914
HP:0001187	Hyperextensibility of the finger joints	121340	SP7	OMIM:613849
HP:0001187	Hyperextensibility of the finger joints	4010	LMX1B	ORPHA:2614
HP:0001188	Hand clenching	7169	TPM2	OMIM:108120
HP:0001188	Hand clenching	3187	HNRNPH1	OMIM:620083
HP:0001188	Hand clenching	8506	CNTNAP1	OMIM:618186
HP:0001188	Hand clenching	1020	CDK5	OMIM:616342
HP:0001188	Hand clenching	56006	SMG9	OMIM:616920
HP:0001188	Hand clenching	2733	GLE1	OMIM:611890
HP:0001188	Hand clenching	1861	TOR1A	OMIM:618947
HP:0001188	Hand clenching	55681	SCYL2	OMIM:618766
HP:0001188	Hand clenching	84942	WDR73	OMIM:251300
HP:0001188	Hand clenching	7841	MOGS	OMIM:606056
HP:0001188	Hand clenching	4703	NEB	OMIM:256030
HP:0001188	Hand clenching	2581	GALC	ORPHA:206436
HP:0001188	Hand clenching	5660	PSAP	ORPHA:206436
HP:0001188	Hand clenching	23345	SYNE1	ORPHA:319332
HP:0001188	Hand clenching	23299	BICD2	OMIM:618291
HP:0001188	Hand clenching	2317	FLNB	ORPHA:56305
HP:0001188	Hand clenching	2898	GRIK2	OMIM:619580
HP:0001188	Hand clenching	54880	BCOR	OMIM:300166
HP:0001188	Hand clenching	57498	KIDINS220	OMIM:619501
HP:0001188	Hand clenching	80816	ASXL3	OMIM:615485
HP:0001188	Hand clenching	84342	COG8	OMIM:611182
HP:0001188	Hand clenching	6536	SLC6A9	OMIM:617301
HP:0001188	Hand clenching	51741	WWOX	OMIM:616211
HP:0001188	Hand clenching	84162	BLTP1	OMIM:617822
HP:0001188	Hand clenching	667	DST	OMIM:614653
HP:0001188	Hand clenching	2782	GNB1	OMIM:616973
HP:0001188	Hand clenching	3897	L1CAM	ORPHA:2466
HP:0001188	Hand clenching	529	ATP6V1E1	OMIM:617402
HP:0001188	Hand clenching	4654	MYOD1	OMIM:618975
HP:0001188	Hand clenching	54676	GTPBP2	OMIM:617988
HP:0001188	Hand clenching	4137	MAPT	ORPHA:240103
HP:0001188	Hand clenching	4929	NR4A2	ORPHA:1617
HP:0001188	Hand clenching	10716	TBR1	ORPHA:1617
HP:0001188	Hand clenching	3736	KCNA1	ORPHA:37612
HP:0010548	Percussion myotonia	859	CAV3	OMIM:606072
HP:0010548	Percussion myotonia	284119	CAVIN1	OMIM:613327
HP:0010548	Percussion myotonia	3094	HINT1	ORPHA:324442
HP:0010548	Percussion myotonia	6329	SCN4A	ORPHA:684
HP:0010548	Percussion myotonia	6329	SCN4A	OMIM:168300
HP:0010548	Percussion myotonia	6329	SCN4A	OMIM:608390
HP:0010548	Percussion myotonia	487	ATP2A1	OMIM:601003
HP:0010548	Percussion myotonia	6840	SVIL	OMIM:619040
HP:0010548	Percussion myotonia	10049	DNAJB6	ORPHA:34516
HP:0010548	Percussion myotonia	3339	HSPG2	OMIM:255800
HP:0010548	Percussion myotonia	1180	CLCN1	OMIM:160800
HP:0010548	Percussion myotonia	1180	CLCN1	OMIM:255700
HP:0010548	Percussion myotonia	1353	COX11	OMIM:620275
HP:0004389	Intestinal pseudo-obstruction	3190	HNRNPK	ORPHA:453504
HP:0004389	Intestinal pseudo-obstruction	3190	HNRNPK	ORPHA:352665
HP:0004389	Intestinal pseudo-obstruction	4629	MYH11	OMIM:619350
HP:0004389	Intestinal pseudo-obstruction	4558	MT-TF	ORPHA:550
HP:0004389	Intestinal pseudo-obstruction	4572	MT-TQ	ORPHA:550
HP:0004389	Intestinal pseudo-obstruction	4512	MT-CO1	ORPHA:550
HP:0004389	Intestinal pseudo-obstruction	4513	MT-CO2	ORPHA:550
HP:0004389	Intestinal pseudo-obstruction	4514	MT-CO3	ORPHA:550
HP:0004389	Intestinal pseudo-obstruction	4578	MT-TW	ORPHA:550
HP:0004389	Intestinal pseudo-obstruction	4540	MT-ND5	ORPHA:550
HP:0004389	Intestinal pseudo-obstruction	4541	MT-ND6	ORPHA:550
HP:0004389	Intestinal pseudo-obstruction	4535	MT-ND1	ORPHA:550
HP:0004389	Intestinal pseudo-obstruction	4538	MT-ND4	ORPHA:550
HP:0004389	Intestinal pseudo-obstruction	4567	MT-TL1	ORPHA:550
HP:0004389	Intestinal pseudo-obstruction	4574	MT-TS1	ORPHA:550
HP:0004389	Intestinal pseudo-obstruction	4575	MT-TS2	ORPHA:550
HP:0004389	Intestinal pseudo-obstruction	4564	MT-TH	ORPHA:550
HP:0004389	Intestinal pseudo-obstruction	56652	TWNK	OMIM:607459
HP:0004389	Intestinal pseudo-obstruction	56652	TWNK	ORPHA:70595
HP:0004389	Intestinal pseudo-obstruction	5428	POLG	OMIM:607459
HP:0004389	Intestinal pseudo-obstruction	5428	POLG	OMIM:613662
HP:0004389	Intestinal pseudo-obstruction	5428	POLG	OMIM:603041
HP:0004389	Intestinal pseudo-obstruction	5428	POLG	ORPHA:70595
HP:0004389	Intestinal pseudo-obstruction	72	ACTG2	OMIM:155310
HP:0004389	Intestinal pseudo-obstruction	2316	FLNA	OMIM:300048
HP:0004389	Intestinal pseudo-obstruction	151648	SGO1	OMIM:616201
HP:0004389	Intestinal pseudo-obstruction	6608	SMO	OMIM:601707
HP:0004389	Intestinal pseudo-obstruction	3423	IDS	OMIM:309900
HP:0004389	Intestinal pseudo-obstruction	3980	LIG3	OMIM:619780
HP:0004389	Intestinal pseudo-obstruction	672	BRCA1	ORPHA:1333
HP:0004389	Intestinal pseudo-obstruction	285282	RABL3	ORPHA:1333
HP:0004389	Intestinal pseudo-obstruction	7157	TP53	ORPHA:1333
HP:0004389	Intestinal pseudo-obstruction	675	BRCA2	ORPHA:1333
HP:0004389	Intestinal pseudo-obstruction	3845	KRAS	ORPHA:1333
HP:0004389	Intestinal pseudo-obstruction	1029	CDKN2A	ORPHA:1333
HP:0004389	Intestinal pseudo-obstruction	79728	PALB2	ORPHA:1333
HP:0004389	Intestinal pseudo-obstruction	4089	SMAD4	ORPHA:1333
HP:0004389	Intestinal pseudo-obstruction	23022	PALLD	ORPHA:1333
HP:0004389	Intestinal pseudo-obstruction	5885	RAD21	OMIM:611376
HP:0004389	Intestinal pseudo-obstruction	2065	ERBB3	OMIM:243180
HP:0004389	Intestinal pseudo-obstruction	1890	TYMP	OMIM:603041
HP:0004388	Microcolon	2627	GATA6	OMIM:600001
HP:0004388	Microcolon	2984	GUCY2C	OMIM:614665
HP:0004388	Microcolon	4000	LMNA	ORPHA:1662
HP:0004388	Microcolon	10269	ZMPSTE24	ORPHA:1662
HP:0004388	Microcolon	6663	SOX10	ORPHA:163746
HP:0004388	Microcolon	25802	LMOD1	ORPHA:2241
HP:0004388	Microcolon	25802	LMOD1	OMIM:619362
HP:0004388	Microcolon	4629	MYH11	ORPHA:2241
HP:0004388	Microcolon	4629	MYH11	OMIM:619351
HP:0004388	Microcolon	72	ACTG2	ORPHA:2241
HP:0004388	Microcolon	72	ACTG2	OMIM:155310
HP:0004388	Microcolon	72	ACTG2	OMIM:619431
HP:0004388	Microcolon	4638	MYLK	ORPHA:2241
HP:0004388	Microcolon	1174	AP1S1	OMIM:609313
HP:0004387	Enterocolitis	215	ABCD1	ORPHA:388
HP:0004387	Enterocolitis	5979	RET	ORPHA:388
HP:0004387	Enterocolitis	5979	RET	OMIM:142623
HP:0004387	Enterocolitis	2668	GDNF	ORPHA:388
HP:0004387	Enterocolitis	6608	SMO	ORPHA:388
HP:0004387	Enterocolitis	1889	ECE1	ORPHA:388
HP:0004387	Enterocolitis	6720	SREBF1	ORPHA:388
HP:0004387	Enterocolitis	1908	EDN3	ORPHA:388
HP:0004387	Enterocolitis	223117	SEMA3D	ORPHA:388
HP:0004387	Enterocolitis	538	ATP7A	ORPHA:388
HP:0004387	Enterocolitis	1910	EDNRB	ORPHA:388
HP:0004387	Enterocolitis	10512	SEMA3C	ORPHA:388
HP:0004387	Enterocolitis	2064	ERBB2	ORPHA:388
HP:0004387	Enterocolitis	2065	ERBB3	ORPHA:388
HP:0004387	Enterocolitis	4902	NRTN	ORPHA:388
HP:0004387	Enterocolitis	58484	NLRC4	OMIM:616050
HP:0004387	Enterocolitis	6772	STAT1	ORPHA:391487
HP:0004387	Enterocolitis	1736	DKC1	OMIM:301108
HP:0004387	Enterocolitis	57217	TTC7A	OMIM:243150
HP:0004387	Enterocolitis	26873	OPLAH	OMIM:260005
HP:0004387	Enterocolitis	55505	NOP10	OMIM:620425
HP:0004387	Enterocolitis	3587	IL10RA	OMIM:613148
HP:0004387	Enterocolitis	5336	PLCG2	OMIM:614878
HP:0004387	Enterocolitis	3588	IL10RB	OMIM:612567
HP:0004387	Enterocolitis	5294	PIK3CG	OMIM:619802
HP:0004387	Enterocolitis	1991	ELANE	ORPHA:2686
HP:0004387	Enterocolitis	2542	SLC37A4	ORPHA:79259
HP:0004387	Enterocolitis	8547	FCN3	OMIM:613860
HP:0004387	Enterocolitis	2271	FH	OMIM:606812
HP:0004387	Enterocolitis	4629	MYH11	OMIM:619350
HP:0004387	Enterocolitis	37	ACADVL	OMIM:201475
HP:0004387	Enterocolitis	84992	PIGY	OMIM:616809
HP:0004387	Enterocolitis	50619	DEF6	OMIM:619573
HP:0004386	Gastrointestinal inflammation	92482	BBIP1	ORPHA:110
HP:0004386	Gastrointestinal inflammation	80184	CEP290	ORPHA:110
HP:0004386	Gastrointestinal inflammation	11020	IFT27	ORPHA:110
HP:0004386	Gastrointestinal inflammation	582	BBS1	ORPHA:110
HP:0004386	Gastrointestinal inflammation	49855	SCAPER	ORPHA:110
HP:0004386	Gastrointestinal inflammation	4867	NPHP1	ORPHA:110
HP:0004386	Gastrointestinal inflammation	51057	WDPCP	ORPHA:110
HP:0004386	Gastrointestinal inflammation	132320	SCLT1	ORPHA:110
HP:0004386	Gastrointestinal inflammation	27241	BBS9	ORPHA:110
HP:0004386	Gastrointestinal inflammation	84984	CEP19	ORPHA:110
HP:0004386	Gastrointestinal inflammation	22954	TRIM32	ORPHA:110
HP:0004386	Gastrointestinal inflammation	54903	MKS1	ORPHA:110
HP:0004386	Gastrointestinal inflammation	79738	BBS10	ORPHA:110
HP:0004386	Gastrointestinal inflammation	123016	TTC8	ORPHA:110
HP:0004386	Gastrointestinal inflammation	26160	IFT172	ORPHA:110
HP:0004386	Gastrointestinal inflammation	583	BBS2	ORPHA:110
HP:0004386	Gastrointestinal inflammation	585	BBS4	ORPHA:110
HP:0004386	Gastrointestinal inflammation	8195	MKKS	ORPHA:110
HP:0004386	Gastrointestinal inflammation	54585	LZTFL1	ORPHA:110
HP:0004386	Gastrointestinal inflammation	55212	BBS7	ORPHA:110
HP:0004386	Gastrointestinal inflammation	166379	BBS12	ORPHA:110
HP:0004386	Gastrointestinal inflammation	10806	SDCCAG8	ORPHA:110
HP:0004386	Gastrointestinal inflammation	157657	CFAP418	ORPHA:110
HP:0004386	Gastrointestinal inflammation	84100	ARL6	ORPHA:110
HP:0004386	Gastrointestinal inflammation	129880	BBS5	ORPHA:110
HP:0004386	Gastrointestinal inflammation	80173	IFT74	ORPHA:110
HP:0004386	Gastrointestinal inflammation	7454	WAS	OMIM:301000
HP:0004386	Gastrointestinal inflammation	7454	WAS	ORPHA:906
HP:0004386	Gastrointestinal inflammation	57680	CHD8	OMIM:615032
HP:0004386	Gastrointestinal inflammation	1493	CTLA4	ORPHA:436159
HP:0004386	Gastrointestinal inflammation	331	XIAP	OMIM:300635
HP:0004386	Gastrointestinal inflammation	331	XIAP	ORPHA:538934
HP:0004386	Gastrointestinal inflammation	4688	NCF2	OMIM:233710
HP:0004386	Gastrointestinal inflammation	5243	ABCB1	OMIM:612244
HP:0004386	Gastrointestinal inflammation	3257	HPS1	OMIM:203300
HP:0004386	Gastrointestinal inflammation	987	LRBA	OMIM:614700
HP:0004386	Gastrointestinal inflammation	7456	WIPF1	ORPHA:906
HP:0004386	Gastrointestinal inflammation	8737	RIPK1	OMIM:618108
HP:0004386	Gastrointestinal inflammation	2542	SLC37A4	OMIM:232220
HP:0004386	Gastrointestinal inflammation	2542	SLC37A4	ORPHA:79259
HP:0004386	Gastrointestinal inflammation	2542	SLC37A4	OMIM:232240
HP:0004386	Gastrointestinal inflammation	5293	PIK3CD	OMIM:619281
HP:0004386	Gastrointestinal inflammation	3106	HLA-B	ORPHA:29207
HP:0004386	Gastrointestinal inflammation	3106	HLA-B	OMIM:106300
HP:0004386	Gastrointestinal inflammation	59067	IL21	OMIM:615767
HP:0004386	Gastrointestinal inflammation	2165	F13B	ORPHA:331
HP:0004386	Gastrointestinal inflammation	2162	F13A1	ORPHA:331
HP:0004386	Gastrointestinal inflammation	3123	HLA-DRB1	OMIM:181000
HP:0004386	Gastrointestinal inflammation	55612	FERMT1	ORPHA:2908
HP:0004386	Gastrointestinal inflammation	10616	RBCK1	OMIM:615895
HP:0004386	Gastrointestinal inflammation	6550	SLC9A3	OMIM:616868
HP:0004386	Gastrointestinal inflammation	4210	MEFV	ORPHA:3243
HP:0004386	Gastrointestinal inflammation	5777	PTPN6	ORPHA:3243
HP:0004386	Gastrointestinal inflammation	10095	ARPC1B	OMIM:617718
HP:0004386	Gastrointestinal inflammation	2000	ELF4	OMIM:301074
HP:0004386	Gastrointestinal inflammation	64127	NOD2	OMIM:266600
HP:0004386	Gastrointestinal inflammation	3569	IL6	OMIM:266600
HP:0004386	Gastrointestinal inflammation	57511	COG6	OMIM:614576
HP:0004386	Gastrointestinal inflammation	345611	IRGM	OMIM:612278
HP:0004386	Gastrointestinal inflammation	8517	IKBKG	ORPHA:98813
HP:0004386	Gastrointestinal inflammation	4792	NFKBIA	ORPHA:98813
HP:0004386	Gastrointestinal inflammation	64858	DCLRE1B	OMIM:620133
HP:0004386	Gastrointestinal inflammation	2395	FXN	ORPHA:95
HP:0004386	Gastrointestinal inflammation	5297	PI4KA	OMIM:619708
HP:0004386	Gastrointestinal inflammation	355	FAS	ORPHA:3261
HP:0004386	Gastrointestinal inflammation	356	FASLG	ORPHA:3261
HP:0004386	Gastrointestinal inflammation	843	CASP10	ORPHA:3261
HP:0004386	Gastrointestinal inflammation	51750	RTEL1	OMIM:615190
HP:0004386	Gastrointestinal inflammation	5422	POLA1	OMIM:301220
HP:0004386	Gastrointestinal inflammation	7128	TNFAIP3	OMIM:616744
HP:0004386	Gastrointestinal inflammation	4261	CIITA	OMIM:209920
HP:0004386	Gastrointestinal inflammation	10625	IVNS1ABP	OMIM:618969
HP:0004386	Gastrointestinal inflammation	50943	FOXP3	ORPHA:37042
HP:0004386	Gastrointestinal inflammation	6499	SKIC2	OMIM:614602
HP:0004386	Gastrointestinal inflammation	6499	SKIC2	ORPHA:84064
HP:0004386	Gastrointestinal inflammation	5551	PRF1	ORPHA:540
HP:0004386	Gastrointestinal inflammation	8676	STX11	ORPHA:540
HP:0004386	Gastrointestinal inflammation	201294	UNC13D	ORPHA:540
HP:0004386	Gastrointestinal inflammation	6813	STXBP2	ORPHA:540
HP:0004386	Gastrointestinal inflammation	6813	STXBP2	OMIM:613101
HP:0004386	Gastrointestinal inflammation	8915	BCL10	OMIM:616098
HP:0004386	Gastrointestinal inflammation	23149	FCHO1	OMIM:619164
HP:0004386	Gastrointestinal inflammation	5699	PSMB10	OMIM:620807
HP:0004386	Gastrointestinal inflammation	9652	SKIC3	ORPHA:84064
HP:0004386	Gastrointestinal inflammation	7535	ZAP70	OMIM:617006
HP:0004386	Gastrointestinal inflammation	7535	ZAP70	ORPHA:911
HP:0004386	Gastrointestinal inflammation	4689	NCF4	OMIM:613960
HP:0004386	Gastrointestinal inflammation	5294	PIK3CG	OMIM:619802
HP:0004386	Gastrointestinal inflammation	81858	SHARPIN	OMIM:620795
HP:0004386	Gastrointestinal inflammation	338328	GPIHBP1	OMIM:615947
HP:0004386	Gastrointestinal inflammation	4067	LYN	OMIM:620376
HP:0004386	Gastrointestinal inflammation	3909	LAMA3	ORPHA:79404
HP:0004386	Gastrointestinal inflammation	3918	LAMC2	ORPHA:79404
HP:0004386	Gastrointestinal inflammation	3914	LAMB3	ORPHA:79404
HP:0004386	Gastrointestinal inflammation	1308	COL17A1	ORPHA:79406
HP:0004386	Gastrointestinal inflammation	4312	MMP1	ORPHA:79408
HP:0004386	Gastrointestinal inflammation	1294	COL7A1	ORPHA:79408
HP:0004386	Gastrointestinal inflammation	1294	COL7A1	ORPHA:79409
HP:0004386	Gastrointestinal inflammation	1294	COL7A1	ORPHA:79410
HP:0004386	Gastrointestinal inflammation	1294	COL7A1	ORPHA:79411
HP:0004386	Gastrointestinal inflammation	3594	IL12RB1	ORPHA:186
HP:0004386	Gastrointestinal inflammation	23534	TNPO3	ORPHA:186
HP:0004386	Gastrointestinal inflammation	3592	IL12A	ORPHA:186
HP:0004386	Gastrointestinal inflammation	6689	SPIB	ORPHA:186
HP:0004386	Gastrointestinal inflammation	5450	POU2AF1	ORPHA:186
HP:0004386	Gastrointestinal inflammation	9966	TNFSF15	ORPHA:186
HP:0004386	Gastrointestinal inflammation	79258	MMEL1	ORPHA:186
HP:0004386	Gastrointestinal inflammation	3663	IRF5	ORPHA:186
HP:0004386	Gastrointestinal inflammation	215	ABCD1	ORPHA:388
HP:0004386	Gastrointestinal inflammation	5979	RET	ORPHA:388
HP:0004386	Gastrointestinal inflammation	5979	RET	OMIM:142623
HP:0004386	Gastrointestinal inflammation	2668	GDNF	ORPHA:388
HP:0004386	Gastrointestinal inflammation	6608	SMO	ORPHA:388
HP:0004386	Gastrointestinal inflammation	1889	ECE1	ORPHA:388
HP:0004386	Gastrointestinal inflammation	6720	SREBF1	ORPHA:388
HP:0004386	Gastrointestinal inflammation	1908	EDN3	ORPHA:388
HP:0004386	Gastrointestinal inflammation	223117	SEMA3D	ORPHA:388
HP:0004386	Gastrointestinal inflammation	1910	EDNRB	ORPHA:388
HP:0004386	Gastrointestinal inflammation	10512	SEMA3C	ORPHA:388
HP:0004386	Gastrointestinal inflammation	2064	ERBB2	ORPHA:388
HP:0004386	Gastrointestinal inflammation	2065	ERBB3	ORPHA:388
HP:0004386	Gastrointestinal inflammation	4902	NRTN	ORPHA:388
HP:0004386	Gastrointestinal inflammation	58484	NLRC4	OMIM:616050
HP:0004386	Gastrointestinal inflammation	6772	STAT1	ORPHA:391487
HP:0004386	Gastrointestinal inflammation	1736	DKC1	OMIM:301108
HP:0004386	Gastrointestinal inflammation	57217	TTC7A	OMIM:243150
HP:0004386	Gastrointestinal inflammation	26873	OPLAH	OMIM:260005
HP:0004386	Gastrointestinal inflammation	55505	NOP10	OMIM:620425
HP:0004386	Gastrointestinal inflammation	5336	PLCG2	OMIM:614878
HP:0004386	Gastrointestinal inflammation	3588	IL10RB	OMIM:612567
HP:0004386	Gastrointestinal inflammation	1991	ELANE	ORPHA:2686
HP:0004386	Gastrointestinal inflammation	84433	CARD11	OMIM:617638
HP:0004386	Gastrointestinal inflammation	3716	JAK1	OMIM:618999
HP:0004386	Gastrointestinal inflammation	1794	DOCK2	OMIM:616433
HP:0004386	Gastrointestinal inflammation	8547	FCN3	OMIM:613860
HP:0004386	Gastrointestinal inflammation	2271	FH	OMIM:606812
HP:0004386	Gastrointestinal inflammation	37	ACADVL	OMIM:201475
HP:0004386	Gastrointestinal inflammation	84992	PIGY	OMIM:616809
HP:0004386	Gastrointestinal inflammation	50619	DEF6	OMIM:619573
HP:0004386	Gastrointestinal inflammation	2859	GPR35	ORPHA:171
HP:0004386	Gastrointestinal inflammation	10507	SEMA4D	ORPHA:171
HP:0004386	Gastrointestinal inflammation	4485	MST1	ORPHA:171
HP:0004386	Gastrointestinal inflammation	10747	MASP2	OMIM:613791
HP:0004386	Gastrointestinal inflammation	27178	IL37	OMIM:619398
HP:0004386	Gastrointestinal inflammation	6885	MAP3K7	OMIM:617137
HP:0004386	Gastrointestinal inflammation	6850	SYK	OMIM:619381
HP:0004386	Gastrointestinal inflammation	139818	DOCK11	OMIM:301109
HP:0004386	Gastrointestinal inflammation	29775	CARD10	OMIM:619632
HP:0004386	Gastrointestinal inflammation	60468	BACH2	OMIM:618394
HP:0004386	Gastrointestinal inflammation	55765	INAVA	OMIM:618077
HP:0004386	Gastrointestinal inflammation	9051	PSTPIP1	ORPHA:69126
HP:0004386	Gastrointestinal inflammation	79415	CYBC1	OMIM:618935
HP:0004386	Gastrointestinal inflammation	96459	FNIP1	OMIM:619705
HP:0004386	Gastrointestinal inflammation	3587	IL10RA	OMIM:613148
HP:0004386	Gastrointestinal inflammation	2984	GUCY2C	OMIM:614616
HP:0004386	Gastrointestinal inflammation	4629	MYH11	OMIM:619350
HP:0004386	Gastrointestinal inflammation	538	ATP7A	ORPHA:198
HP:0004386	Gastrointestinal inflammation	5966	REL	OMIM:619652
HP:0004386	Gastrointestinal inflammation	4221	MEN1	OMIM:131100
HP:0004386	Gastrointestinal inflammation	22900	CARD8	OMIM:619079
HP:0004386	Gastrointestinal inflammation	6135	RPL11	OMIM:612562
HP:0004386	Gastrointestinal inflammation	60684	TRAPPC11	OMIM:615356
HP:0004386	Gastrointestinal inflammation	5238	PGM3	ORPHA:443811
HP:0004386	Gastrointestinal inflammation	3376	IARS1	ORPHA:541423
HP:0004386	Gastrointestinal inflammation	81031	SLC2A10	ORPHA:3342
HP:0004386	Gastrointestinal inflammation	9719	ADAMTSL2	ORPHA:1901
HP:0004386	Gastrointestinal inflammation	9509	ADAMTS2	ORPHA:1901
HP:0004386	Gastrointestinal inflammation	6925	TCF4	ORPHA:2896
HP:0004386	Gastrointestinal inflammation	2887	GRB10	ORPHA:96182
HP:0004386	Gastrointestinal inflammation	2743	GLRB	ORPHA:3197
HP:0004386	Gastrointestinal inflammation	2741	GLRA1	ORPHA:3197
HP:0004386	Gastrointestinal inflammation	10243	GPHN	ORPHA:3197
HP:0004386	Gastrointestinal inflammation	84896	ATAD1	ORPHA:3197
HP:0004386	Gastrointestinal inflammation	9152	SLC6A5	ORPHA:3197
HP:0004386	Gastrointestinal inflammation	146206	CARMIL2	OMIM:618131
HP:0004386	Gastrointestinal inflammation	7543	ZFX	OMIM:301118
HP:0004386	Gastrointestinal inflammation	4010	LMX1B	ORPHA:495818
HP:0004386	Gastrointestinal inflammation	6812	STXBP1	ORPHA:495818
HP:0004386	Gastrointestinal inflammation	5723	PSPH	ORPHA:79350
HP:0004386	Gastrointestinal inflammation	26227	PHGDH	ORPHA:79351
HP:0004386	Gastrointestinal inflammation	1027	CDKN1B	ORPHA:276152
HP:0004386	Gastrointestinal inflammation	4088	SMAD3	OMIM:613795
HP:0004386	Gastrointestinal inflammation	7046	TGFBR1	OMIM:609192
HP:0004386	Gastrointestinal inflammation	81704	DOCK8	OMIM:243700
HP:0004386	Gastrointestinal inflammation	7048	TGFBR2	OMIM:610168
HP:0004386	Gastrointestinal inflammation	1828	DSG1	OMIM:615508
HP:0004386	Gastrointestinal inflammation	6774	STAT3	OMIM:147060
HP:0004386	Gastrointestinal inflammation	7042	TGFB2	OMIM:614816
HP:0004386	Gastrointestinal inflammation	6778	STAT6	OMIM:620532
HP:0004386	Gastrointestinal inflammation	7040	TGFB1	OMIM:618213
HP:0004386	Gastrointestinal inflammation	7043	TGFB3	OMIM:615582
HP:0004386	Gastrointestinal inflammation	1777	DNASE2	OMIM:619858
HP:0004385	Protracted diarrhea	546	ATRX	ORPHA:100075
HP:0004385	Protracted diarrhea	915	CD3D	ORPHA:169160
HP:0004385	Protracted diarrhea	916	CD3E	ORPHA:169160
HP:0004385	Protracted diarrhea	919	CD247	ORPHA:169160
HP:0004385	Protracted diarrhea	919	CD247	OMIM:610163
HP:0004385	Protracted diarrhea	5994	RFXAP	ORPHA:572
HP:0004385	Protracted diarrhea	5994	RFXAP	OMIM:620817
HP:0004385	Protracted diarrhea	4261	CIITA	ORPHA:572
HP:0004385	Protracted diarrhea	4261	CIITA	OMIM:209920
HP:0004385	Protracted diarrhea	5993	RFX5	ORPHA:572
HP:0004385	Protracted diarrhea	5993	RFX5	OMIM:620816
HP:0004385	Protracted diarrhea	8625	RFXANK	ORPHA:572
HP:0004385	Protracted diarrhea	5896	RAG1	ORPHA:331206
HP:0004385	Protracted diarrhea	5897	RAG2	ORPHA:331206
HP:0004385	Protracted diarrhea	3932	LCK	OMIM:615758
HP:0004385	Protracted diarrhea	6392	SDHD	ORPHA:100093
HP:0004385	Protracted diarrhea	4645	MYO5B	OMIM:251850
HP:0004383	Hypoplastic left heart	2294	FOXF1	OMIM:265380
HP:0004383	Hypoplastic left heart	2294	FOXF1	ORPHA:210122
HP:0004383	Hypoplastic left heart	7490	WT1	OMIM:608978
HP:0004383	Hypoplastic left heart	7490	WT1	ORPHA:3097
HP:0004383	Hypoplastic left heart	2464	FRA16E	OMIM:136570
HP:0004383	Hypoplastic left heart	10735	STAG2	OMIM:301043
HP:0004383	Hypoplastic left heart	10735	STAG2	OMIM:301022
HP:0004383	Hypoplastic left heart	6910	TBX5	ORPHA:392
HP:0004383	Hypoplastic left heart	6910	TBX5	OMIM:142900
HP:0004383	Hypoplastic left heart	65250	CPLANE1	OMIM:277170
HP:0004383	Hypoplastic left heart	7026	NR2F2	OMIM:618901
HP:0004383	Hypoplastic left heart	7026	NR2F2	OMIM:615779
HP:0004383	Hypoplastic left heart	2033	EP300	OMIM:180849
HP:0004383	Hypoplastic left heart	1387	CREBBP	OMIM:180849
HP:0004383	Hypoplastic left heart	11020	IFT27	OMIM:615996
HP:0004383	Hypoplastic left heart	1024	CDK8	OMIM:618748
HP:0004383	Hypoplastic left heart	9681	DEPDC5	OMIM:620504
HP:0004383	Hypoplastic left heart	57514	ARHGAP31	OMIM:100300
HP:0004383	Hypoplastic left heart	145173	B3GLCT	ORPHA:709
HP:0004383	Hypoplastic left heart	6899	TBX1	ORPHA:1727
HP:0004383	Hypoplastic left heart	8405	SPOP	OMIM:618829
HP:0004383	Hypoplastic left heart	1837	DTNA	OMIM:604169
HP:0004383	Hypoplastic left heart	23498	HAAO	OMIM:617660
HP:0004383	Hypoplastic left heart	3021	H3-3B	OMIM:619721
HP:0004383	Hypoplastic left heart	2627	GATA6	OMIM:614474
HP:0004383	Hypoplastic left heart	219854	TMEM218	OMIM:619562
HP:0004383	Hypoplastic left heart	8942	KYNU	OMIM:617661
HP:0004383	Hypoplastic left heart	2697	GJA1	ORPHA:2248
HP:0004383	Hypoplastic left heart	1482	NKX2-5	ORPHA:2248
HP:0004383	Hypoplastic left heart	1482	NKX2-5	OMIM:614435
HP:0004383	Hypoplastic left heart	1482	NKX2-5	ORPHA:402075
HP:0004383	Hypoplastic left heart	55784	MCTP2	ORPHA:1596
HP:0004383	Hypoplastic left heart	4851	NOTCH1	ORPHA:402075
HP:0004383	Hypoplastic left heart	140628	GATA5	ORPHA:402075
HP:0004383	Hypoplastic left heart	4091	SMAD6	ORPHA:402075
HP:0004383	Hypoplastic left heart	5053	PAH	ORPHA:2209
HP:0004383	Hypoplastic left heart	745	MYRF	OMIM:618280
HP:0004383	Hypoplastic left heart	7547	ZIC3	OMIM:306955
HP:0004383	Hypoplastic left heart	9897	WASHC5	OMIM:220210
HP:0004383	Hypoplastic left heart	9897	WASHC5	ORPHA:7
HP:0004383	Hypoplastic left heart	84231	TRAF7	OMIM:618164
HP:0004383	Hypoplastic left heart	25836	NIPBL	OMIM:122470
HP:0004383	Hypoplastic left heart	8195	MKKS	ORPHA:2473
HP:0004383	Hypoplastic left heart	55191	NADSYN1	OMIM:618845
HP:0004383	Hypoplastic left heart	2626	GATA4	ORPHA:251071
HP:0004383	Hypoplastic left heart	28952	CCDC22	ORPHA:7
HP:0004383	Hypoplastic left heart	57020	VPS35L	ORPHA:7
HP:0004383	Hypoplastic left heart	56896	DPYSL5	ORPHA:7
HP:0004383	Hypoplastic left heart	51117	COQ4	OMIM:616276
HP:0004383	Hypoplastic left heart	168507	PKD1L1	OMIM:617205
HP:0004383	Hypoplastic left heart	220136	CFAP53	OMIM:614779
HP:0004383	Hypoplastic left heart	2783	GNB2	OMIM:619503
HP:0004383	Hypoplastic left heart	100128908	CIROP	OMIM:619702
HP:0004383	Hypoplastic left heart	2313	FLI1	ORPHA:2308
HP:0004383	Hypoplastic left heart	23129	PLXND1	OMIM:620294
HP:0004383	Hypoplastic left heart	8085	KMT2D	OMIM:147920
HP:0004383	Hypoplastic left heart	7403	KDM6A	OMIM:147920
HP:0004383	Hypoplastic left heart	164781	DAW1	OMIM:620570
HP:0004382	Mitral valve calcification	3081	HGD	ORPHA:56
HP:0004382	Mitral valve calcification	3081	HGD	OMIM:203500
HP:0004382	Mitral valve calcification	64135	IFIH1	OMIM:182250
HP:0004382	Mitral valve calcification	4000	LMNA	ORPHA:363618
HP:0004382	Mitral valve calcification	4000	LMNA	ORPHA:740
HP:0004382	Mitral valve calcification	10269	ZMPSTE24	ORPHA:740
HP:0004382	Mitral valve calcification	2629	GBA1	OMIM:231005
HP:0004382	Mitral valve calcification	2629	GBA1	ORPHA:77261
HP:0004382	Mitral valve calcification	2629	GBA1	ORPHA:2072
HP:0004382	Mitral valve calcification	10568	SLC34A2	ORPHA:60025
HP:0004382	Mitral valve calcification	10651	MTX2	OMIM:619127
HP:0004382	Mitral valve calcification	2200	FBN1	OMIM:154700
HP:0004381	Supravalvular aortic stenosis	3949	LDLR	ORPHA:391665
HP:0004381	Supravalvular aortic stenosis	255738	PCSK9	ORPHA:391665
HP:0004381	Supravalvular aortic stenosis	26119	LDLRAP1	ORPHA:391665
HP:0004381	Supravalvular aortic stenosis	338	APOB	ORPHA:391665
HP:0004381	Supravalvular aortic stenosis	64240	ABCG5	ORPHA:391665
HP:0004381	Supravalvular aortic stenosis	64241	ABCG8	ORPHA:391665
HP:0004381	Supravalvular aortic stenosis	2006	ELN	OMIM:185500
HP:0004381	Supravalvular aortic stenosis	2006	ELN	ORPHA:3193
HP:0004381	Supravalvular aortic stenosis	2006	ELN	ORPHA:904
HP:0004381	Supravalvular aortic stenosis	2006	ELN	OMIM:194050
HP:0004381	Supravalvular aortic stenosis	4052	LTBP1	ORPHA:90349
HP:0004381	Supravalvular aortic stenosis	30008	EFEMP2	ORPHA:90349
HP:0004381	Supravalvular aortic stenosis	10516	FBLN5	ORPHA:90349
HP:0004381	Supravalvular aortic stenosis	10516	FBLN5	OMIM:219100
HP:0004381	Supravalvular aortic stenosis	6804	STX1A	ORPHA:904
HP:0004381	Supravalvular aortic stenosis	7461	CLIP2	ORPHA:904
HP:0004381	Supravalvular aortic stenosis	84277	DNAJC30	ORPHA:904
HP:0004381	Supravalvular aortic stenosis	8468	FKBP6	ORPHA:904
HP:0004381	Supravalvular aortic stenosis	5982	RFC2	ORPHA:904
HP:0004381	Supravalvular aortic stenosis	2969	GTF2I	ORPHA:904
HP:0004381	Supravalvular aortic stenosis	3984	LIMK1	ORPHA:904
HP:0004381	Supravalvular aortic stenosis	9569	GTF2IRD1	ORPHA:904
HP:0004381	Supravalvular aortic stenosis	155382	VPS37D	ORPHA:904
HP:0004381	Supravalvular aortic stenosis	155368	METTL27	ORPHA:904
HP:0004381	Supravalvular aortic stenosis	114049	BUD23	ORPHA:904
HP:0004381	Supravalvular aortic stenosis	7458	EIF4H	ORPHA:904
HP:0004381	Supravalvular aortic stenosis	84163	GTF2IRD2	ORPHA:904
HP:0004381	Supravalvular aortic stenosis	26608	TBL2	ORPHA:904
HP:0004381	Supravalvular aortic stenosis	653361	NCF1	ORPHA:904
HP:0004381	Supravalvular aortic stenosis	135886	TMEM270	ORPHA:904
HP:0004381	Supravalvular aortic stenosis	9031	BAZ1B	ORPHA:904
HP:0004381	Supravalvular aortic stenosis	22800	RRAS2	OMIM:618624
HP:0004381	Supravalvular aortic stenosis	85440	DOCK7	OMIM:615859
HP:0004381	Supravalvular aortic stenosis	51085	MLXIPL	OMIM:194050
HP:0004380	Aortic valve calcification	3081	HGD	ORPHA:56
HP:0004380	Aortic valve calcification	3081	HGD	OMIM:203500
HP:0004380	Aortic valve calcification	64135	IFIH1	OMIM:182250
HP:0004380	Aortic valve calcification	4000	LMNA	ORPHA:740
HP:0004380	Aortic valve calcification	4000	LMNA	ORPHA:79474
HP:0004380	Aortic valve calcification	10269	ZMPSTE24	ORPHA:740
HP:0004380	Aortic valve calcification	2629	GBA1	ORPHA:77261
HP:0004380	Aortic valve calcification	2629	GBA1	ORPHA:2072
HP:0004380	Aortic valve calcification	2629	GBA1	OMIM:231005
HP:0004380	Aortic valve calcification	23586	RIGI	OMIM:616298
HP:0004380	Aortic valve calcification	4851	NOTCH1	ORPHA:402075
HP:0004380	Aortic valve calcification	4851	NOTCH1	OMIM:109730
HP:0004380	Aortic valve calcification	1482	NKX2-5	ORPHA:402075
HP:0004380	Aortic valve calcification	140628	GATA5	ORPHA:402075
HP:0004380	Aortic valve calcification	4091	SMAD6	ORPHA:402075
HP:0004399	Congenital pyloric atresia	3655	ITGA6	ORPHA:79403
HP:0004399	Congenital pyloric atresia	3655	ITGA6	OMIM:619817
HP:0004399	Congenital pyloric atresia	3691	ITGB4	ORPHA:79403
HP:0004399	Congenital pyloric atresia	3691	ITGB4	OMIM:226730
HP:0004399	Congenital pyloric atresia	3691	ITGB4	ORPHA:158684
HP:0004399	Congenital pyloric atresia	5339	PLEC	OMIM:612138
HP:0004399	Congenital pyloric atresia	5339	PLEC	OMIM:226730
HP:0004399	Congenital pyloric atresia	5339	PLEC	ORPHA:158684
HP:0004398	Peptic ulcer	6774	STAT3	OMIM:147060
HP:0004398	Peptic ulcer	7466	WFS1	ORPHA:3463
HP:0004398	Peptic ulcer	57492	ARID1B	OMIM:135900
HP:0004398	Peptic ulcer	2629	GBA1	ORPHA:2072
HP:0004398	Peptic ulcer	5321	PLA2G4A	OMIM:618372
HP:0004398	Peptic ulcer	4221	MEN1	ORPHA:652
HP:0004398	Peptic ulcer	4221	MEN1	OMIM:131100
HP:0004398	Peptic ulcer	1027	CDKN1B	ORPHA:652
HP:0004398	Peptic ulcer	1027	CDKN1B	ORPHA:276152
HP:0004398	Peptic ulcer	1026	CDKN1A	ORPHA:652
HP:0004398	Peptic ulcer	1030	CDKN2B	ORPHA:652
HP:0004398	Peptic ulcer	1031	CDKN2C	ORPHA:652
HP:0004398	Peptic ulcer	79577	CDC73	ORPHA:143
HP:0004398	Peptic ulcer	79577	CDC73	ORPHA:99880
HP:0004398	Peptic ulcer	1175	AP2S1	OMIM:600740
HP:0004398	Peptic ulcer	493856	CISD2	OMIM:604928
HP:0004398	Peptic ulcer	2767	GNA11	OMIM:145981
HP:0004398	Peptic ulcer	171023	ASXL1	ORPHA:98849
HP:0004398	Peptic ulcer	54790	TET2	ORPHA:98849
HP:0004398	Peptic ulcer	3815	KIT	ORPHA:98849
HP:0004398	Peptic ulcer	6427	SRSF2	ORPHA:98849
HP:0004398	Peptic ulcer	6804	STX1A	ORPHA:904
HP:0004398	Peptic ulcer	7461	CLIP2	ORPHA:904
HP:0004398	Peptic ulcer	84277	DNAJC30	ORPHA:904
HP:0004398	Peptic ulcer	8468	FKBP6	ORPHA:904
HP:0004398	Peptic ulcer	5982	RFC2	ORPHA:904
HP:0004398	Peptic ulcer	2969	GTF2I	ORPHA:904
HP:0004398	Peptic ulcer	3984	LIMK1	ORPHA:904
HP:0004398	Peptic ulcer	9569	GTF2IRD1	ORPHA:904
HP:0004398	Peptic ulcer	155382	VPS37D	ORPHA:904
HP:0004398	Peptic ulcer	155368	METTL27	ORPHA:904
HP:0004398	Peptic ulcer	114049	BUD23	ORPHA:904
HP:0004398	Peptic ulcer	7458	EIF4H	ORPHA:904
HP:0004398	Peptic ulcer	84163	GTF2IRD2	ORPHA:904
HP:0004398	Peptic ulcer	26608	TBL2	ORPHA:904
HP:0004398	Peptic ulcer	653361	NCF1	ORPHA:904
HP:0004398	Peptic ulcer	135886	TMEM270	ORPHA:904
HP:0004398	Peptic ulcer	9031	BAZ1B	ORPHA:904
HP:0004398	Peptic ulcer	2006	ELN	ORPHA:904
HP:0004398	Peptic ulcer	3248	HPGD	ORPHA:2796
HP:0004398	Peptic ulcer	6578	SLCO2A1	ORPHA:2796
HP:0004397	Ectopic anus	64840	PORCN	OMIM:305600
HP:0004397	Ectopic anus	10128	LRPPRC	OMIM:220111
HP:0004397	Ectopic anus	9791	PTDSS1	OMIM:151050
HP:0004397	Ectopic anus	2072	ERCC4	OMIM:615272
HP:0004397	Ectopic anus	5447	POR	OMIM:201750
HP:0004397	Ectopic anus	5447	POR	ORPHA:95699
HP:0004397	Ectopic anus	6628	SNRPB	OMIM:117650
HP:0004397	Ectopic anus	23512	SUZ12	OMIM:618786
HP:0004397	Ectopic anus	54539	NDUFB11	OMIM:309801
HP:0004397	Ectopic anus	1349	COX7B	OMIM:309801
HP:0004397	Ectopic anus	3052	HCCS	OMIM:309801
HP:0004397	Ectopic anus	145173	B3GLCT	OMIM:261540
HP:0004397	Ectopic anus	222546	RFX6	OMIM:615710
HP:0004397	Ectopic anus	1024	CDK8	OMIM:618748
HP:0004397	Ectopic anus	29957	SLC25A24	OMIM:612289
HP:0004397	Ectopic anus	6091	ROBO1	OMIM:620305
HP:0004397	Ectopic anus	22800	RRAS2	OMIM:618624
HP:0004397	Ectopic anus	158326	FREM1	ORPHA:217266
HP:0004397	Ectopic anus	158326	FREM1	OMIM:248450
HP:0004397	Ectopic anus	158326	FREM1	ORPHA:2717
HP:0004397	Ectopic anus	158326	FREM1	OMIM:608980
HP:0004397	Ectopic anus	8626	TP63	OMIM:604292
HP:0004397	Ectopic anus	9401	RECQL4	OMIM:268400
HP:0004397	Ectopic anus	9401	RECQL4	ORPHA:1225
HP:0004397	Ectopic anus	9401	RECQL4	OMIM:218600
HP:0004397	Ectopic anus	197131	UBR1	OMIM:243800
HP:0004397	Ectopic anus	197131	UBR1	ORPHA:2315
HP:0004397	Ectopic anus	117581	TWIST2	OMIM:200110
HP:0004397	Ectopic anus	8318	CDC45	OMIM:617063
HP:0004397	Ectopic anus	1857	DVL3	OMIM:616894
HP:0004397	Ectopic anus	8942	KYNU	OMIM:617661
HP:0004397	Ectopic anus	28514	DLL1	ORPHA:280195
HP:0004397	Ectopic anus	2253	FGF8	ORPHA:280195
HP:0004397	Ectopic anus	6496	SIX3	ORPHA:280195
HP:0004397	Ectopic anus	7050	TGIF1	ORPHA:280195
HP:0004397	Ectopic anus	4838	NODAL	ORPHA:280195
HP:0004397	Ectopic anus	6469	SHH	ORPHA:280195
HP:0004397	Ectopic anus	7546	ZIC2	ORPHA:280195
HP:0004397	Ectopic anus	6491	STIL	ORPHA:280195
HP:0004397	Ectopic anus	2619	GAS1	ORPHA:280195
HP:0004397	Ectopic anus	84976	DISP1	ORPHA:280195
HP:0004397	Ectopic anus	2736	GLI2	ORPHA:280195
HP:0004397	Ectopic anus	8928	FOXH1	ORPHA:280195
HP:0004397	Ectopic anus	6997	CRIPTO	ORPHA:280195
HP:0004397	Ectopic anus	5727	PTCH1	ORPHA:280195
HP:0004397	Ectopic anus	50937	CDON	ORPHA:280195
HP:0004397	Ectopic anus	1654	DDX3X	ORPHA:3338
HP:0004397	Ectopic anus	79633	FAT4	ORPHA:314679
HP:0004397	Ectopic anus	79633	FAT4	OMIM:615546
HP:0004397	Ectopic anus	8642	DCHS1	ORPHA:314679
HP:0004397	Ectopic anus	8642	DCHS1	OMIM:601390
HP:0004397	Ectopic anus	6299	SALL1	ORPHA:857
HP:0004397	Ectopic anus	51339	DACT1	ORPHA:857
HP:0004397	Ectopic anus	9968	MED12	OMIM:305450
HP:0004397	Ectopic anus	55650	PIGV	OMIM:239300
HP:0004397	Ectopic anus	55650	PIGV	ORPHA:247262
HP:0004397	Ectopic anus	4784	NFIX	OMIM:602535
HP:0004397	Ectopic anus	84992	PIGY	ORPHA:247262
HP:0004397	Ectopic anus	84720	PIGO	ORPHA:247262
HP:0004397	Ectopic anus	93210	PGAP3	ORPHA:247262
HP:0004397	Ectopic anus	284098	PIGW	ORPHA:247262
HP:0004397	Ectopic anus	27315	PGAP2	ORPHA:247262
HP:0004397	Ectopic anus	9487	PIGL	ORPHA:247262
HP:0004397	Ectopic anus	4081	MAB21L1	ORPHA:495875
HP:0004397	Ectopic anus	23522	KAT6B	OMIM:606170
HP:0004397	Ectopic anus	1108	CHD4	OMIM:617159
HP:0004397	Ectopic anus	25836	NIPBL	OMIM:122470
HP:0004397	Ectopic anus	157570	ESCO2	ORPHA:2319
HP:0004397	Ectopic anus	157570	ESCO2	OMIM:216100
HP:0004397	Ectopic anus	1009	CDH11	OMIM:211380
HP:0004397	Ectopic anus	1009	CDH11	ORPHA:1299
HP:0004397	Ectopic anus	37	ACADVL	ORPHA:26793
HP:0004397	Ectopic anus	1656	DDX6	OMIM:618653
HP:0004397	Ectopic anus	1822	ATN1	OMIM:618494
HP:0004397	Ectopic anus	1642	DDB1	OMIM:619426
HP:0004397	Ectopic anus	26005	C2CD3	OMIM:615948
HP:0004397	Ectopic anus	26040	SETBP1	ORPHA:798
HP:0004397	Ectopic anus	2737	GLI3	OMIM:146510
HP:0004397	Ectopic anus	8085	KMT2D	OMIM:147920
HP:0004397	Ectopic anus	7403	KDM6A	OMIM:147920
HP:0004397	Ectopic anus	2263	FGFR2	ORPHA:87
HP:0004397	Ectopic anus	2263	FGFR2	OMIM:101200
HP:0004397	Ectopic anus	341640	FREM2	ORPHA:2052
HP:0004397	Ectopic anus	80144	FRAS1	ORPHA:2052
HP:0004397	Ectopic anus	23426	GRIP1	ORPHA:2052
HP:0004397	Ectopic anus	23556	PIGN	ORPHA:2059
HP:0004397	Ectopic anus	8195	MKKS	ORPHA:2473
HP:0004397	Ectopic anus	64359	NXN	ORPHA:1507
HP:0004397	Ectopic anus	4920	ROR2	ORPHA:1507
HP:0004397	Ectopic anus	9897	WASHC5	ORPHA:7
HP:0004397	Ectopic anus	28952	CCDC22	ORPHA:7
HP:0004397	Ectopic anus	57020	VPS35L	ORPHA:7
HP:0004397	Ectopic anus	56896	DPYSL5	ORPHA:7
HP:0004397	Ectopic anus	55112	DYNC2I1	ORPHA:93271
HP:0004397	Ectopic anus	57560	IFT80	ORPHA:93271
HP:0004397	Ectopic anus	57539	WDR35	ORPHA:93271
HP:0004397	Ectopic anus	79659	DYNC2H1	ORPHA:93271
HP:0004397	Ectopic anus	89891	DYNC2I2	ORPHA:93271
HP:0004397	Ectopic anus	4281	MID1	ORPHA:2745
HP:0004397	Ectopic anus	84667	HES7	OMIM:613686
HP:0004397	Ectopic anus	9573	GDF3	ORPHA:2345
HP:0004397	Ectopic anus	392255	GDF6	ORPHA:2345
HP:0004397	Ectopic anus	4222	MEOX1	ORPHA:2345
HP:0004397	Ectopic anus	267010	RNU12	ORPHA:85199
HP:0004397	Ectopic anus	2313	FLI1	ORPHA:2308
HP:0004397	Ectopic anus	6926	TBX3	ORPHA:3138
HP:0004397	Ectopic anus	7547	ZIC3	OMIM:306955
HP:0004396	Poor appetite	3858	KRT10	ORPHA:312
HP:0004396	Poor appetite	3848	KRT1	ORPHA:312
HP:0004396	Poor appetite	10068	IL18BP	OMIM:618549
HP:0004396	Poor appetite	9881	TRANK1	ORPHA:33543
HP:0004396	Poor appetite	6476	SI	ORPHA:35122
HP:0004396	Poor appetite	92667	MGME1	ORPHA:352447
HP:0004396	Poor appetite	4210	MEFV	ORPHA:342
HP:0004396	Poor appetite	2887	GRB10	ORPHA:96182
HP:0004396	Poor appetite	55630	SLC39A4	ORPHA:37
HP:0004396	Poor appetite	55630	SLC39A4	OMIM:201100
HP:0004396	Poor appetite	221496	LEMD2	OMIM:619322
HP:0004396	Poor appetite	6514	SLC2A2	OMIM:227810
HP:0004396	Poor appetite	3708	ITPR1	OMIM:117360
HP:0004396	Poor appetite	10165	SLC25A13	ORPHA:247598
HP:0004396	Poor appetite	79971	WLS	OMIM:619648
HP:0004396	Poor appetite	5428	POLG	ORPHA:298
HP:0004396	Poor appetite	1890	TYMP	ORPHA:298
HP:0004396	Poor appetite	3980	LIG3	ORPHA:298
HP:0004396	Poor appetite	50484	RRM2B	ORPHA:298
HP:0004396	Poor appetite	8029	CUBN	ORPHA:35858
HP:0004396	Poor appetite	81693	AMN	ORPHA:35858
HP:0004396	Poor appetite	5295	PIK3R1	ORPHA:3163
HP:0004396	Poor appetite	7040	TGFB1	OMIM:131300
HP:0004396	Poor appetite	816	CAMK2B	OMIM:617799
HP:0004396	Poor appetite	162417	NAGS	ORPHA:927
HP:0004396	Poor appetite	79651	RHBDF2	ORPHA:2198
HP:0004396	Poor appetite	5095	PCCA	OMIM:606054
HP:0004396	Poor appetite	5096	PCCB	OMIM:606054
HP:0004396	Poor appetite	641	BLM	ORPHA:125
HP:0004396	Poor appetite	613	BCR	ORPHA:521
HP:0004396	Poor appetite	25	ABL1	ORPHA:521
HP:0004396	Poor appetite	861	RUNX1	ORPHA:521
HP:0004396	Poor appetite	546	ATRX	ORPHA:100075
HP:0004396	Poor appetite	57190	SELENON	ORPHA:2020
HP:0004396	Poor appetite	58	ACTA1	ORPHA:2020
HP:0004396	Poor appetite	4633	MYL2	ORPHA:2020
HP:0004396	Poor appetite	3679	ITGA7	ORPHA:2020
HP:0004396	Poor appetite	7169	TPM2	ORPHA:2020
HP:0004396	Poor appetite	9200	HACD1	ORPHA:2020
HP:0004396	Poor appetite	7170	TPM3	ORPHA:2020
HP:0004396	Poor appetite	51776	MAP3K20	ORPHA:2020
HP:0004396	Poor appetite	115286	SLC25A26	OMIM:616794
HP:0004396	Poor appetite	672	BRCA1	ORPHA:1333
HP:0004396	Poor appetite	285282	RABL3	ORPHA:1333
HP:0004396	Poor appetite	7157	TP53	ORPHA:1333
HP:0004396	Poor appetite	675	BRCA2	ORPHA:1333
HP:0004396	Poor appetite	3845	KRAS	ORPHA:1333
HP:0004396	Poor appetite	1029	CDKN2A	ORPHA:1333
HP:0004396	Poor appetite	79728	PALB2	ORPHA:1333
HP:0004396	Poor appetite	4089	SMAD4	ORPHA:1333
HP:0004396	Poor appetite	23022	PALLD	ORPHA:1333
HP:0004396	Poor appetite	1497	CTNS	ORPHA:411634
HP:0004395	Malnutrition	51128	SAR1B	OMIM:246700
HP:0004395	Malnutrition	3988	LIPA	ORPHA:75233
HP:0004395	Malnutrition	535	ATP6V0A1	OMIM:619971
HP:0004395	Malnutrition	72	ACTG2	OMIM:155310
HP:0004395	Malnutrition	11330	CTRC	ORPHA:103918
HP:0004395	Malnutrition	6690	SPINK1	ORPHA:103918
HP:0004395	Malnutrition	229	ALDOB	OMIM:229600
HP:0004395	Malnutrition	54914	FOCAD	OMIM:619991
HP:0004395	Malnutrition	1890	TYMP	OMIM:603041
HP:0004395	Malnutrition	5428	POLG	OMIM:603041
HP:0004395	Malnutrition	5428	POLG	OMIM:613662
HP:0004395	Malnutrition	51608	GET4	OMIM:620200
HP:0004395	Malnutrition	9056	SLC7A7	OMIM:222700
HP:0004395	Malnutrition	3909	LAMA3	ORPHA:79404
HP:0004395	Malnutrition	3918	LAMC2	ORPHA:79404
HP:0004395	Malnutrition	3914	LAMB3	ORPHA:79404
HP:0004395	Malnutrition	4312	MMP1	ORPHA:79408
HP:0004395	Malnutrition	1294	COL7A1	ORPHA:79408
HP:0004395	Malnutrition	1294	COL7A1	OMIM:226600
HP:0004395	Malnutrition	1294	COL7A1	ORPHA:89842
HP:0004395	Malnutrition	57589	RIC1	ORPHA:199306
HP:0004395	Malnutrition	5818	NECTIN1	ORPHA:199306
HP:0004395	Malnutrition	1739	DLG1	ORPHA:199306
HP:0004395	Malnutrition	999	CDH1	ORPHA:199306
HP:0004395	Malnutrition	5156	PDGFRA	ORPHA:199306
HP:0004395	Malnutrition	3664	IRF6	ORPHA:199306
HP:0004395	Malnutrition	1748	DLX4	ORPHA:199306
HP:0004395	Malnutrition	4487	MSX1	ORPHA:199306
HP:0004395	Malnutrition	652	BMP4	ORPHA:199306
HP:0004395	Malnutrition	8626	TP63	ORPHA:199306
HP:0004395	Malnutrition	22837	COBLL1	ORPHA:199306
HP:0004395	Malnutrition	54848	ARHGEF38	ORPHA:199306
HP:0004395	Malnutrition	9411	ARHGAP29	ORPHA:199306
HP:0004395	Malnutrition	6288	SAA1	ORPHA:85445
HP:0004395	Malnutrition	6523	SLC5A1	ORPHA:35710
HP:0004395	Malnutrition	4645	MYO5B	OMIM:251850
HP:0004395	Malnutrition	84701	COX4I2	OMIM:612714
HP:0004395	Malnutrition	4001	LMNB1	ORPHA:99027
HP:0004395	Malnutrition	3119	HLA-DQB1	ORPHA:930
HP:0004395	Malnutrition	9244	CRLF1	ORPHA:930
HP:0004395	Malnutrition	3117	HLA-DQA1	ORPHA:930
HP:0004395	Malnutrition	4842	NOS1	ORPHA:930
HP:0004395	Malnutrition	134218	DNAJC21	ORPHA:811
HP:0004395	Malnutrition	79631	EFL1	ORPHA:811
HP:0004395	Malnutrition	51119	SBDS	ORPHA:811
HP:0004394	Multiple gastric polyps	657	BMPR1A	ORPHA:329971
HP:0004394	Multiple gastric polyps	657	BMPR1A	OMIM:174900
HP:0004394	Multiple gastric polyps	4089	SMAD4	ORPHA:329971
HP:0004394	Multiple gastric polyps	4089	SMAD4	OMIM:174900
HP:0004394	Multiple gastric polyps	2022	ENG	ORPHA:329971
HP:0004394	Multiple gastric polyps	6794	STK11	OMIM:175200
HP:0004394	Multiple gastric polyps	324	APC	OMIM:175100
HP:0004394	Multiple gastric polyps	324	APC	ORPHA:247806
HP:0004394	Multiple gastric polyps	324	APC	ORPHA:79665
HP:0004394	Multiple gastric polyps	11277	TREX1	OMIM:225750
HP:0004394	Multiple gastric polyps	4437	MSH3	ORPHA:480536
HP:0001410	Decreased liver function	435	ASL	ORPHA:23
HP:0001410	Decreased liver function	1374	CPT1A	ORPHA:156
HP:0001410	Decreased liver function	26191	PTPN22	ORPHA:397
HP:0001410	Decreased liver function	3106	HLA-B	ORPHA:397
HP:0001410	Decreased liver function	8974	P4HA2	ORPHA:397
HP:0001410	Decreased liver function	6309	SC5D	ORPHA:46059
HP:0001410	Decreased liver function	72	ACTG2	OMIM:619431
HP:0001410	Decreased liver function	2632	GBE1	OMIM:232500
HP:0001410	Decreased liver function	26160	IFT172	OMIM:615630
HP:0001410	Decreased liver function	9414	TJP2	OMIM:615878
HP:0001410	Decreased liver function	2629	GBA1	OMIM:608013
HP:0001410	Decreased liver function	2629	GBA1	ORPHA:77259
HP:0001410	Decreased liver function	9420	CYP7B1	ORPHA:79302
HP:0001410	Decreased liver function	9420	CYP7B1	OMIM:613812
HP:0001410	Decreased liver function	6718	AKR1D1	ORPHA:79303
HP:0001410	Decreased liver function	6718	AKR1D1	OMIM:235555
HP:0001410	Decreased liver function	5604	MAP2K1	ORPHA:389
HP:0001410	Decreased liver function	4893	NRAS	ORPHA:389
HP:0001410	Decreased liver function	673	BRAF	ORPHA:389
HP:0001410	Decreased liver function	5009	OTC	ORPHA:664
HP:0001410	Decreased liver function	4535	MT-ND1	ORPHA:255210
HP:0001410	Decreased liver function	4536	MT-ND2	ORPHA:255210
HP:0001410	Decreased liver function	4537	MT-ND3	ORPHA:255210
HP:0001410	Decreased liver function	4538	MT-ND4	ORPHA:255210
HP:0001410	Decreased liver function	4567	MT-TL1	ORPHA:255210
HP:0001410	Decreased liver function	4578	MT-TW	ORPHA:255210
HP:0001410	Decreased liver function	4577	MT-TV	ORPHA:255210
HP:0001410	Decreased liver function	4508	MT-ATP6	ORPHA:255210
HP:0001410	Decreased liver function	4540	MT-ND5	ORPHA:255210
HP:0001410	Decreased liver function	4541	MT-ND6	ORPHA:255210
HP:0001410	Decreased liver function	4566	MT-TK	ORPHA:255210
HP:0001410	Decreased liver function	197131	UBR1	OMIM:243800
HP:0001410	Decreased liver function	4141	MARS1	OMIM:615486
HP:0001410	Decreased liver function	4068	SH2D1A	OMIM:308240
HP:0001410	Decreased liver function	331	XIAP	OMIM:308240
HP:0001410	Decreased liver function	331	XIAP	ORPHA:538934
HP:0001410	Decreased liver function	54658	UGT1A1	OMIM:143500
HP:0001410	Decreased liver function	2165	F13B	ORPHA:331
HP:0001410	Decreased liver function	2162	F13A1	ORPHA:331
HP:0001410	Decreased liver function	427	ASAH1	ORPHA:333
HP:0001410	Decreased liver function	27235	COQ2	OMIM:607426
HP:0001410	Decreased liver function	51473	DCDC2	OMIM:617394
HP:0001410	Decreased liver function	5105	PCK1	OMIM:261680
HP:0001410	Decreased liver function	50619	DEF6	OMIM:619573
HP:0001410	Decreased liver function	7019	TFAM	OMIM:617156
HP:0001410	Decreased liver function	3988	LIPA	OMIM:278000
HP:0001410	Decreased liver function	3988	LIPA	ORPHA:75233
HP:0001410	Decreased liver function	3988	LIPA	ORPHA:75234
HP:0001410	Decreased liver function	4358	MPV17	OMIM:256810
HP:0001410	Decreased liver function	55764	IFT122	OMIM:218330
HP:0001410	Decreased liver function	1716	DGUOK	OMIM:251880
HP:0001410	Decreased liver function	5277	PIGA	OMIM:300868
HP:0001410	Decreased liver function	5277	PIGA	OMIM:301072
HP:0001410	Decreased liver function	9971	NR1H4	OMIM:617049
HP:0001410	Decreased liver function	25839	COG4	OMIM:613489
HP:0001410	Decreased liver function	6811	STX5	OMIM:620454
HP:0001410	Decreased liver function	788	SLC25A20	ORPHA:159
HP:0001410	Decreased liver function	8241	RBM10	OMIM:311900
HP:0001410	Decreased liver function	7840	ALMS1	ORPHA:64
HP:0001410	Decreased liver function	9056	SLC7A7	ORPHA:470
HP:0001410	Decreased liver function	80270	HSD3B7	OMIM:607765
HP:0001410	Decreased liver function	51241	COX16	OMIM:619355
HP:0001410	Decreased liver function	570	BAAT	OMIM:619232
HP:0001410	Decreased liver function	54914	FOCAD	OMIM:619991
HP:0001410	Decreased liver function	10068	IL18BP	OMIM:618549
HP:0001410	Decreased liver function	8364	H4C3	OMIM:619758
HP:0001410	Decreased liver function	5265	SERPINA1	ORPHA:60
HP:0001410	Decreased liver function	5428	POLG	OMIM:203700
HP:0001410	Decreased liver function	23600	AMACR	OMIM:214950
HP:0001410	Decreased liver function	378884	NHLRC1	ORPHA:501
HP:0001410	Decreased liver function	7957	EPM2A	ORPHA:501
HP:0001410	Decreased liver function	7957	EPM2A	OMIM:254780
HP:0001410	Decreased liver function	3594	IL12RB1	ORPHA:186
HP:0001410	Decreased liver function	23534	TNPO3	ORPHA:186
HP:0001410	Decreased liver function	3592	IL12A	ORPHA:186
HP:0001410	Decreased liver function	6689	SPIB	ORPHA:186
HP:0001410	Decreased liver function	5450	POU2AF1	ORPHA:186
HP:0001410	Decreased liver function	9966	TNFSF15	ORPHA:186
HP:0001410	Decreased liver function	79258	MMEL1	ORPHA:186
HP:0001410	Decreased liver function	3663	IRF5	ORPHA:186
HP:0001410	Decreased liver function	5106	PCK2	OMIM:261650
HP:0001410	Decreased liver function	50615	IL21R	OMIM:615207
HP:0001410	Decreased liver function	182	JAG1	OMIM:118450
HP:0001410	Decreased liver function	28976	ACAD9	OMIM:611126
HP:0001410	Decreased liver function	6514	SLC2A2	ORPHA:2088
HP:0001410	Decreased liver function	540	ATP7B	OMIM:277900
HP:0001410	Decreased liver function	2271	FH	OMIM:606812
HP:0001410	Decreased liver function	9076	CLDN1	OMIM:607626
HP:0001410	Decreased liver function	2658	GDF2	ORPHA:774
HP:0001410	Decreased liver function	94	ACVRL1	ORPHA:774
HP:0001410	Decreased liver function	4089	SMAD4	ORPHA:774
HP:0001410	Decreased liver function	2022	ENG	ORPHA:774
HP:0001410	Decreased liver function	51081	MRPS7	OMIM:617872
HP:0001410	Decreased liver function	9652	SKIC3	OMIM:222470
HP:0001410	Decreased liver function	4724	NDUFS4	OMIM:252010
HP:0001410	Decreased liver function	29960	MRM2	OMIM:618567
HP:0001410	Decreased liver function	5824	PEX19	OMIM:614886
HP:0001410	Decreased liver function	5824	PEX19	ORPHA:912
HP:0001410	Decreased liver function	84317	CCDC115	OMIM:616828
HP:0001410	Decreased liver function	2184	FAH	OMIM:276700
HP:0001410	Decreased liver function	25913	POT1	OMIM:620367
HP:0001410	Decreased liver function	1376	CPT2	ORPHA:228305
HP:0001410	Decreased liver function	1376	CPT2	ORPHA:228308
HP:0001410	Decreased liver function	28962	OSTM1	OMIM:259720
HP:0001410	Decreased liver function	546	ATRX	ORPHA:100075
HP:0001410	Decreased liver function	5825	ABCD3	OMIM:616278
HP:0001410	Decreased liver function	80169	CTC1	ORPHA:1775
HP:0001410	Decreased liver function	26277	TINF2	ORPHA:1775
HP:0001410	Decreased liver function	55651	NHP2	ORPHA:1775
HP:0001410	Decreased liver function	79650	USB1	ORPHA:1775
HP:0001410	Decreased liver function	55135	WRAP53	ORPHA:1775
HP:0001410	Decreased liver function	51750	RTEL1	ORPHA:1775
HP:0001410	Decreased liver function	4869	NPM1	ORPHA:1775
HP:0001410	Decreased liver function	7012	TERC	ORPHA:1775
HP:0001410	Decreased liver function	55505	NOP10	ORPHA:1775
HP:0001410	Decreased liver function	5073	PARN	ORPHA:1775
HP:0001410	Decreased liver function	7015	TERT	ORPHA:1775
HP:0001410	Decreased liver function	1736	DKC1	ORPHA:1775
HP:0001410	Decreased liver function	7298	TYMS	ORPHA:1775
HP:0001410	Decreased liver function	335	APOA1	OMIM:620657
HP:0001410	Decreased liver function	57410	SCYL1	OMIM:616719
HP:0001410	Decreased liver function	8504	PEX3	ORPHA:912
HP:0001410	Decreased liver function	8799	PEX11B	ORPHA:912
HP:0001410	Decreased liver function	5830	PEX5	ORPHA:912
HP:0001410	Decreased liver function	5189	PEX1	ORPHA:912
HP:0001410	Decreased liver function	5193	PEX12	ORPHA:912
HP:0001410	Decreased liver function	5195	PEX14	ORPHA:912
HP:0001410	Decreased liver function	950	SCARB2	ORPHA:77259
HP:0001410	Decreased liver function	10159	ATP6AP2	OMIM:301045
HP:0001410	Decreased liver function	171023	ASXL1	ORPHA:98850
HP:0001410	Decreased liver function	54790	TET2	ORPHA:98850
HP:0001410	Decreased liver function	867	CBL	ORPHA:98850
HP:0001410	Decreased liver function	861	RUNX1	ORPHA:98850
HP:0001410	Decreased liver function	6427	SRSF2	ORPHA:98850
HP:0001410	Decreased liver function	91949	COG7	OMIM:608779
HP:0001410	Decreased liver function	1738	DLD	OMIM:246900
HP:0001410	Decreased liver function	3376	IARS1	OMIM:617093
HP:0001410	Decreased liver function	57003	CCDC47	OMIM:618268
HP:0001410	Decreased liver function	4574	MT-TS1	OMIM:220110
HP:0001410	Decreased liver function	4570	MT-TN	OMIM:220110
HP:0001410	Decreased liver function	6834	SURF1	OMIM:220110
HP:0001410	Decreased liver function	5190	PEX6	OMIM:614863
HP:0001410	Decreased liver function	2592	GALT	OMIM:230400
HP:0001410	Decreased liver function	5828	PEX2	OMIM:614867
HP:0001410	Decreased liver function	2653	GCSH	OMIM:620423
HP:0001410	Decreased liver function	84334	COA8	ORPHA:436271
HP:0001410	Decreased liver function	1650	DDOST	OMIM:614507
HP:0001410	Decreased liver function	10056	FARSB	OMIM:613658
HP:0001410	Decreased liver function	6261	RYR1	ORPHA:466650
HP:0001410	Decreased liver function	10128	LRPPRC	ORPHA:70472
HP:0001410	Decreased liver function	56052	ALG1	ORPHA:79327
HP:0001410	Decreased liver function	5551	PRF1	ORPHA:540
HP:0001410	Decreased liver function	8676	STX11	ORPHA:540
HP:0001410	Decreased liver function	201294	UNC13D	ORPHA:540
HP:0001410	Decreased liver function	6813	STXBP2	ORPHA:540
HP:0001410	Decreased liver function	3043	HBB	ORPHA:231222
HP:0001410	Decreased liver function	22796	COG2	ORPHA:435934
HP:0001410	Decreased liver function	23395	LARS2	OMIM:617021
HP:0001410	Decreased liver function	7385	UQCRC2	OMIM:615160
HP:0001410	Decreased liver function	51601	LIPT1	OMIM:616299
HP:0001410	Decreased liver function	5192	PEX10	OMIM:614870
HP:0001410	Decreased liver function	5192	PEX10	OMIM:614871
HP:0001410	Decreased liver function	55278	QRSL1	OMIM:618835
HP:0001410	Decreased liver function	55670	PEX26	OMIM:614873
HP:0001410	Decreased liver function	54931	TRMT10C	OMIM:616974
HP:0001410	Decreased liver function	644	BLVRA	OMIM:614156
HP:0001410	Decreased liver function	51649	MRPS23	OMIM:618952
HP:0001410	Decreased liver function	9409	PEX16	OMIM:614877
HP:0001410	Decreased liver function	25973	PARS2	OMIM:618437
HP:0001410	Decreased liver function	100506658	OCLN	OMIM:251290
HP:0001410	Decreased liver function	283459	GATC	OMIM:618839
HP:0001410	Decreased liver function	617	BCS1L	OMIM:124000
HP:0001410	Decreased liver function	10166	SLC25A15	ORPHA:415
HP:0001410	Decreased liver function	10166	SLC25A15	OMIM:238970
HP:0001410	Decreased liver function	9968	MED12	OMIM:301068
HP:0001410	Decreased liver function	4351	MPI	ORPHA:79319
HP:0001410	Decreased liver function	34	ACADM	ORPHA:42
HP:0001410	Decreased liver function	6609	SMPD1	ORPHA:77293
HP:0001410	Decreased liver function	2954	GSTZ1	OMIM:617596
HP:0001410	Decreased liver function	125988	MICOS13	OMIM:618329
HP:0001410	Decreased liver function	738	VPS51	OMIM:618606
HP:0001410	Decreased liver function	5194	PEX13	OMIM:614883
HP:0001410	Decreased liver function	130589	GALM	ORPHA:570422
HP:0001410	Decreased liver function	55005	RMND1	OMIM:614922
HP:0001410	Decreased liver function	147007	TMEM199	OMIM:616829
HP:0001410	Decreased liver function	10195	ALG3	ORPHA:79321
HP:0001410	Decreased liver function	1130	LYST	ORPHA:167
HP:0001410	Decreased liver function	23193	GANAB	OMIM:600666
HP:0001410	Decreased liver function	55532	SLC30A10	OMIM:613280
HP:0001410	Decreased liver function	8772	FADD	ORPHA:306550
HP:0001410	Decreased liver function	79053	ALG8	OMIM:608104
HP:0001410	Decreased liver function	6888	TALDO1	OMIM:606003
HP:0001410	Decreased liver function	2235	FECH	ORPHA:79278
HP:0001410	Decreased liver function	56244	BTNL2	ORPHA:797
HP:0001410	Decreased liver function	3123	HLA-DRB1	ORPHA:797
HP:0001410	Decreased liver function	267010	RNU12	ORPHA:512260
HP:0001410	Decreased liver function	11232	POLG2	OMIM:618528
HP:0001410	Decreased liver function	85476	GFM1	OMIM:609060
HP:0001410	Decreased liver function	3875	KRT18	OMIM:215600
HP:0001410	Decreased liver function	10320	IKZF1	ORPHA:36426
HP:0001410	Decreased liver function	811	CALR	ORPHA:131
HP:0001410	Decreased liver function	3717	JAK2	ORPHA:131
HP:0001410	Decreased liver function	2153	F5	ORPHA:131
HP:0001410	Decreased liver function	51594	NBAS	OMIM:616483
HP:0001410	Decreased liver function	55687	TRMU	OMIM:613070
HP:0001410	Decreased liver function	60561	RINT1	OMIM:618641
HP:0001410	Decreased liver function	2859	GPR35	ORPHA:171
HP:0001410	Decreased liver function	10507	SEMA4D	ORPHA:171
HP:0001410	Decreased liver function	4485	MST1	ORPHA:171
HP:0001410	Decreased liver function	6925	TCF4	ORPHA:171
HP:0001410	Decreased liver function	1537	CYC1	OMIM:615453
HP:0001410	Decreased liver function	64840	PORCN	ORPHA:2092
HP:0001410	Decreased liver function	51520	LARS1	OMIM:615438
HP:0001410	Decreased liver function	83737	ITCH	ORPHA:228426
HP:0001410	Decreased liver function	779	CACNA1S	ORPHA:423
HP:0001410	Decreased liver function	9451	EIF2AK3	ORPHA:1667
HP:0001410	Decreased liver function	4210	MEFV	ORPHA:342
HP:0001410	Decreased liver function	57169	ZNFX1	OMIM:619644
HP:0001410	Decreased liver function	3033	HADH	ORPHA:71212
HP:0001410	Decreased liver function	4864	NPC1	OMIM:257220
HP:0001410	Decreased liver function	4576	MT-TT	ORPHA:254857
HP:0001410	Decreased liver function	56623	INPP5E	ORPHA:1454
HP:0001410	Decreased liver function	91147	TMEM67	ORPHA:1454
HP:0001410	Decreased liver function	23322	RPGRIP1L	ORPHA:1454
HP:0001410	Decreased liver function	57545	CC2D2A	ORPHA:1454
HP:0001410	Decreased liver function	654	BMP6	ORPHA:465508
HP:0001410	Decreased liver function	3077	HFE	ORPHA:465508
HP:0001410	Decreased liver function	3032	HADHB	ORPHA:746
HP:0001410	Decreased liver function	3030	HADHA	ORPHA:746
HP:0001410	Decreased liver function	3431	SP110	ORPHA:79124
HP:0001410	Decreased liver function	229	ALDOB	ORPHA:469
HP:0004392	Prune belly	9780	PIEZO1	OMIM:616843
HP:0004392	Prune belly	91801	ALKBH8	OMIM:618504
HP:0004392	Prune belly	4629	MYH11	OMIM:619351
HP:0004392	Prune belly	1131	CHRM3	OMIM:100100
HP:0004390	Hamartomatous polyposis	10483	SEC23B	ORPHA:201
HP:0004390	Hamartomatous polyposis	5728	PTEN	ORPHA:201
HP:0004390	Hamartomatous polyposis	5728	PTEN	OMIM:158350
HP:0004390	Hamartomatous polyposis	5728	PTEN	ORPHA:79076
HP:0004390	Hamartomatous polyposis	5728	PTEN	ORPHA:109
HP:0004390	Hamartomatous polyposis	6390	SDHB	ORPHA:201
HP:0004390	Hamartomatous polyposis	6392	SDHD	ORPHA:201
HP:0004390	Hamartomatous polyposis	6391	SDHC	ORPHA:201
HP:0004390	Hamartomatous polyposis	207	AKT1	ORPHA:201
HP:0004390	Hamartomatous polyposis	207	AKT1	OMIM:615109
HP:0004390	Hamartomatous polyposis	205717	USF3	ORPHA:201
HP:0004390	Hamartomatous polyposis	5290	PIK3CA	ORPHA:201
HP:0004390	Hamartomatous polyposis	5290	PIK3CA	OMIM:615108
HP:0004390	Hamartomatous polyposis	100144748	KLLN	ORPHA:201
HP:0004390	Hamartomatous polyposis	6794	STK11	OMIM:175200
HP:0004390	Hamartomatous polyposis	657	BMPR1A	ORPHA:79076
HP:0004390	Hamartomatous polyposis	4089	SMAD4	OMIM:175050
HP:0004390	Hamartomatous polyposis	4437	MSH3	ORPHA:480536
HP:0004390	Hamartomatous polyposis	5727	PTCH1	OMIM:109400
HP:0004390	Hamartomatous polyposis	26585	GREM1	ORPHA:157794
HP:0001191	Abnormal carpal morphology	2131	EXT1	ORPHA:321
HP:0001191	Abnormal carpal morphology	2132	EXT2	ORPHA:321
HP:0001191	Abnormal carpal morphology	9401	RECQL4	ORPHA:1225
HP:0001191	Abnormal carpal morphology	51199	NIN	OMIM:614851
HP:0001191	Abnormal carpal morphology	51199	NIN	ORPHA:319675
HP:0001191	Abnormal carpal morphology	6910	TBX5	OMIM:142900
HP:0001191	Abnormal carpal morphology	1280	COL2A1	ORPHA:85166
HP:0001191	Abnormal carpal morphology	6473	SHOX	ORPHA:240
HP:0001191	Abnormal carpal morphology	6473	SHOX	OMIM:127300
HP:0001191	Abnormal carpal morphology	6473	SHOX	ORPHA:2632
HP:0001191	Abnormal carpal morphology	157570	ESCO2	OMIM:216100
HP:0001191	Abnormal carpal morphology	5745	PTH1R	OMIM:600002
HP:0001191	Abnormal carpal morphology	9361	LONP1	OMIM:600373
HP:0001191	Abnormal carpal morphology	8720	MBTPS1	OMIM:618392
HP:0001191	Abnormal carpal morphology	59341	TRPV4	OMIM:184252
HP:0001191	Abnormal carpal morphology	3549	IHH	OMIM:607778
HP:0001191	Abnormal carpal morphology	633	BGN	OMIM:300106
HP:0001191	Abnormal carpal morphology	9321	TRIP11	OMIM:184260
HP:0001191	Abnormal carpal morphology	23233	EXOC6B	OMIM:618395
HP:0001191	Abnormal carpal morphology	2137	EXTL3	OMIM:617425
HP:0001191	Abnormal carpal morphology	55325	UFSP2	OMIM:617974
HP:0001191	Abnormal carpal morphology	6023	RMRP	OMIM:607095
HP:0001191	Abnormal carpal morphology	3209	HOXA13	OMIM:140000
HP:0001191	Abnormal carpal morphology	865	CBFB	OMIM:620099
HP:0001191	Abnormal carpal morphology	4796	TONSL	OMIM:271510
HP:0001191	Abnormal carpal morphology	4148	MATN3	OMIM:607078
HP:0001191	Abnormal carpal morphology	55650	PIGV	OMIM:239300
HP:0001191	Abnormal carpal morphology	5566	PRKACA	ORPHA:289
HP:0001191	Abnormal carpal morphology	5567	PRKACB	ORPHA:289
HP:0001191	Abnormal carpal morphology	2735	GLI1	ORPHA:289
HP:0001191	Abnormal carpal morphology	2121	EVC	ORPHA:289
HP:0001191	Abnormal carpal morphology	2121	EVC	OMIM:225500
HP:0001191	Abnormal carpal morphology	51626	DYNC2LI1	ORPHA:289
HP:0001191	Abnormal carpal morphology	132884	EVC2	ORPHA:289
HP:0001191	Abnormal carpal morphology	132884	EVC2	OMIM:225500
HP:0001191	Abnormal carpal morphology	64093	SMOC1	OMIM:206920
HP:0001191	Abnormal carpal morphology	538	ATP7A	OMIM:304150
HP:0001191	Abnormal carpal morphology	54928	BPNT2	OMIM:614078
HP:0001191	Abnormal carpal morphology	4313	MMP2	ORPHA:371428
HP:0001191	Abnormal carpal morphology	4313	MMP2	OMIM:259600
HP:0001191	Abnormal carpal morphology	4323	MMP14	ORPHA:371428
HP:0001191	Abnormal carpal morphology	4323	MMP14	OMIM:277950
HP:0001191	Abnormal carpal morphology	9935	MAFB	OMIM:166300
HP:0001191	Abnormal carpal morphology	9935	MAFB	ORPHA:2774
HP:0001191	Abnormal carpal morphology	54808	DYM	OMIM:223800
HP:0001191	Abnormal carpal morphology	89970	RSPRY1	ORPHA:457395
HP:0001191	Abnormal carpal morphology	89970	RSPRY1	OMIM:616723
HP:0001191	Abnormal carpal morphology	5832	ALDH18A1	OMIM:601162
HP:0001191	Abnormal carpal morphology	2316	FLNA	OMIM:311300
HP:0001191	Abnormal carpal morphology	2317	FLNB	OMIM:150250
HP:0001191	Abnormal carpal morphology	2317	FLNB	ORPHA:503
HP:0001191	Abnormal carpal morphology	84068	SLC10A7	OMIM:618363
HP:0001191	Abnormal carpal morphology	29072	SETD2	OMIM:616831
HP:0001191	Abnormal carpal morphology	5144	PDE4D	OMIM:614613
HP:0001191	Abnormal carpal morphology	54187	NANS	OMIM:610442
HP:0001191	Abnormal carpal morphology	64131	XYLT1	OMIM:615777
HP:0001191	Abnormal carpal morphology	347734	SLC35B2	OMIM:620269
HP:0001191	Abnormal carpal morphology	23169	SLC35D1	OMIM:269250
HP:0001191	Abnormal carpal morphology	124583	CANT1	OMIM:617719
HP:0001191	Abnormal carpal morphology	124583	CANT1	OMIM:251450
HP:0001191	Abnormal carpal morphology	1311	COMP	ORPHA:750
HP:0001191	Abnormal carpal morphology	1311	COMP	OMIM:177170
HP:0001191	Abnormal carpal morphology	79158	GNPTAB	OMIM:252600
HP:0001191	Abnormal carpal morphology	9451	EIF2AK3	OMIM:226980
HP:0001191	Abnormal carpal morphology	23592	LEMD3	ORPHA:166119
HP:0001191	Abnormal carpal morphology	10682	EBP	OMIM:302960
HP:0001191	Abnormal carpal morphology	10568	SLC34A2	ORPHA:60025
HP:0001191	Abnormal carpal morphology	3417	IDH1	ORPHA:99646
HP:0001191	Abnormal carpal morphology	64327	LMBR1	ORPHA:93321
HP:0001191	Abnormal carpal morphology	6469	SHH	ORPHA:93321
HP:0001191	Abnormal carpal morphology	64359	NXN	ORPHA:1507
HP:0001191	Abnormal carpal morphology	4920	ROR2	ORPHA:1507
HP:0001191	Abnormal carpal morphology	727857	BHLHA9	ORPHA:157801
HP:0001191	Abnormal carpal morphology	9555	MACROH2A1	ORPHA:1275
HP:0001191	Abnormal carpal morphology	5307	PITX1	ORPHA:1275
HP:0001191	Abnormal carpal morphology	4038	LRP4	ORPHA:3258
HP:0001191	Abnormal carpal morphology	324	APC	ORPHA:3258
HP:0001191	Abnormal carpal morphology	2263	FGFR2	OMIM:101200
HP:0001191	Abnormal carpal morphology	3835	KIF22	ORPHA:93360
HP:0001191	Abnormal carpal morphology	8200	GDF5	ORPHA:968
HP:0001191	Abnormal carpal morphology	8200	GDF5	OMIM:201250
HP:0001191	Abnormal carpal morphology	9469	CHST3	OMIM:143095
HP:0001191	Abnormal carpal morphology	2719	GPC3	OMIM:312870
HP:0001191	Abnormal carpal morphology	2239	GPC4	OMIM:312870
HP:0001191	Abnormal carpal morphology	4853	NOTCH2	OMIM:102500
HP:0001191	Abnormal carpal morphology	7476	WNT7A	OMIM:276820
HP:0001191	Abnormal carpal morphology	4921	DDR2	OMIM:271665
HP:0001191	Abnormal carpal morphology	5167	ENPP1	ORPHA:51608
HP:0001191	Abnormal carpal morphology	368	ABCC6	ORPHA:51608
HP:0001191	Abnormal carpal morphology	4621	MYH3	OMIM:178110
HP:0001191	Abnormal carpal morphology	5447	POR	OMIM:201750
HP:0001191	Abnormal carpal morphology	9241	NOG	OMIM:186570
HP:0001191	Abnormal carpal morphology	9241	NOG	OMIM:611377
HP:0001191	Abnormal carpal morphology	9241	NOG	OMIM:186500
HP:0001191	Abnormal carpal morphology	9241	NOG	OMIM:185800
HP:0001191	Abnormal carpal morphology	85301	COL27A1	OMIM:615155
HP:0001191	Abnormal carpal morphology	57167	SALL4	OMIM:147750
HP:0001191	Abnormal carpal morphology	2261	FGFR3	ORPHA:53271
HP:0001191	Abnormal carpal morphology	9939	RBM8A	OMIM:274000
HP:0001191	Abnormal carpal morphology	22856	CHSY1	OMIM:605282
HP:0001191	Abnormal carpal morphology	5077	PAX3	OMIM:148820
HP:0001191	Abnormal carpal morphology	658	BMPR1B	OMIM:609441
HP:0001191	Abnormal carpal morphology	3239	HOXD13	OMIM:186300
HP:0001191	Abnormal carpal morphology	6885	MAP3K7	OMIM:157800
HP:0001191	Abnormal carpal morphology	2192	FBLN1	OMIM:608180
HP:0001191	Abnormal carpal morphology	126792	B3GALT6	OMIM:615349
HP:0001191	Abnormal carpal morphology	126792	B3GALT6	OMIM:271640
HP:0001191	Abnormal carpal morphology	7516	XRCC2	OMIM:617247
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	7169	TPM2	OMIM:108120
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	259232	NALCN	ORPHA:562528
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	1836	SLC26A2	ORPHA:56304
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	9935	MAFB	OMIM:166300
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	4621	MYH3	OMIM:193700
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	4593	MUSK	OMIM:208150
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	7136	TNNI2	OMIM:601680
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	63895	PIEZO2	OMIM:114300
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	5189	PEX1	OMIM:214100
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	56098	PCDHGC4	OMIM:619880
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	1297	COL9A1	ORPHA:166002
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	1298	COL9A2	ORPHA:166002
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	1299	COL9A3	ORPHA:166002
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	6910	TBX5	OMIM:142900
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	51651	PTRH2	OMIM:616263
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	51651	PTRH2	ORPHA:456312
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	650	BMP2	OMIM:112600
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	3209	HOXA13	OMIM:140000
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	29123	ANKRD11	OMIM:148050
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	23483	TGDS	OMIM:616145
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	1146	CHRNG	OMIM:265000
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	7476	WNT7A	OMIM:228930
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	84231	TRAF7	OMIM:618164
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	7140	TNNT3	ORPHA:1147
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	7140	TNNT3	ORPHA:1146
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	4604	MYBPC1	ORPHA:1146
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	22930	RAB3GAP1	ORPHA:1387
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	25782	RAB3GAP2	ORPHA:1387
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	5077	PAX3	ORPHA:1529
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	6473	SHOX	ORPHA:2632
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	50945	TBX22	ORPHA:921
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	3265	HRAS	ORPHA:3071
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	613	BCR	ORPHA:261330
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	1399	CRKL	ORPHA:261330
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	5594	MAPK1	ORPHA:261330
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	3977	LIFR	OMIM:601559
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	3239	HOXD13	ORPHA:93406
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	2201	FBN2	OMIM:121050
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	1717	DHCR7	ORPHA:818
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	6299	SALL1	ORPHA:857
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	51339	DACT1	ORPHA:857
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	8200	GDF5	ORPHA:93384
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	658	BMPR1B	ORPHA:93384
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	10225	CD96	OMIM:211750
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	9382	COG1	OMIM:611209
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	389827	MYMK	ORPHA:1358
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	101929726	MYMX	ORPHA:1358
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	3930	LBR	OMIM:215140
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	23111	SPART	OMIM:275900
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	55131	RBM28	ORPHA:157954
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	55131	RBM28	OMIM:612079
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	4123	MAN2C1	OMIM:619775
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	9968	MED12	OMIM:300895
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	56896	DPYSL5	OMIM:619435
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	5290	PIK3CA	ORPHA:140944
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	6885	MAP3K7	OMIM:617137
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	6885	MAP3K7	ORPHA:1826
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	57211	ADGRG6	OMIM:616503
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	90459	ERI1	OMIM:620663
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	2316	FLNA	ORPHA:1826
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	9939	RBM8A	OMIM:274000
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	1311	COMP	OMIM:177170
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	23299	BICD2	OMIM:618291
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	9839	ZEB2	ORPHA:261537
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	9839	ZEB2	ORPHA:261552
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	79796	ALG9	ORPHA:79328
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	79796	ALG9	OMIM:263210
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	80816	ASXL3	OMIM:615485
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	80776	B9D2	OMIM:614175
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	22858	CILK1	OMIM:612651
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	79633	FAT4	OMIM:615546
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	118924	FRA10AC1	OMIM:620113
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	6263	RYR3	OMIM:620310
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	3911	LAMA5	OMIM:620076
HP:0001194	Abnormalities of placenta or umbilical cord	9652	SKIC3	OMIM:222470
HP:0001194	Abnormalities of placenta or umbilical cord	2294	FOXF1	OMIM:265380
HP:0001194	Abnormalities of placenta or umbilical cord	2294	FOXF1	ORPHA:210122
HP:0001194	Abnormalities of placenta or umbilical cord	7490	WT1	OMIM:608978
HP:0001194	Abnormalities of placenta or umbilical cord	5977	DPF2	OMIM:618027
HP:0001194	Abnormalities of placenta or umbilical cord	2187	FANCB	OMIM:300514
HP:0001194	Abnormalities of placenta or umbilical cord	2187	FANCB	ORPHA:3412
HP:0001194	Abnormalities of placenta or umbilical cord	2627	GATA6	ORPHA:2255
HP:0001194	Abnormalities of placenta or umbilical cord	2627	GATA6	OMIM:600001
HP:0001194	Abnormalities of placenta or umbilical cord	4076	CAPRIN1	OMIM:620782
HP:0001194	Abnormalities of placenta or umbilical cord	374879	ZNF699	OMIM:619488
HP:0001194	Abnormalities of placenta or umbilical cord	91179	SCARF2	OMIM:600920
HP:0001194	Abnormalities of placenta or umbilical cord	117581	TWIST2	OMIM:200110
HP:0001194	Abnormalities of placenta or umbilical cord	54870	QRICH1	OMIM:617982
HP:0001194	Abnormalities of placenta or umbilical cord	79803	HPS6	OMIM:614075
HP:0001194	Abnormalities of placenta or umbilical cord	202018	TAPT1	OMIM:616897
HP:0001194	Abnormalities of placenta or umbilical cord	4893	NRAS	OMIM:613224
HP:0001194	Abnormalities of placenta or umbilical cord	55784	MCTP2	ORPHA:1596
HP:0001194	Abnormalities of placenta or umbilical cord	55690	PACS1	OMIM:615009
HP:0001194	Abnormalities of placenta or umbilical cord	55690	PACS1	ORPHA:329224
HP:0001194	Abnormalities of placenta or umbilical cord	4149	MAX	OMIM:620712
HP:0001194	Abnormalities of placenta or umbilical cord	4625	MYH7	OMIM:613426
HP:0001194	Abnormalities of placenta or umbilical cord	9897	WASHC5	OMIM:220210
HP:0001194	Abnormalities of placenta or umbilical cord	9897	WASHC5	ORPHA:7
HP:0001194	Abnormalities of placenta or umbilical cord	775	CACNA1C	OMIM:601005
HP:0001194	Abnormalities of placenta or umbilical cord	84992	PIGY	ORPHA:247262
HP:0001194	Abnormalities of placenta or umbilical cord	84720	PIGO	ORPHA:247262
HP:0001194	Abnormalities of placenta or umbilical cord	93210	PGAP3	ORPHA:247262
HP:0001194	Abnormalities of placenta or umbilical cord	284098	PIGW	ORPHA:247262
HP:0001194	Abnormalities of placenta or umbilical cord	27315	PGAP2	ORPHA:247262
HP:0001194	Abnormalities of placenta or umbilical cord	55650	PIGV	ORPHA:247262
HP:0001194	Abnormalities of placenta or umbilical cord	9487	PIGL	ORPHA:247262
HP:0001194	Abnormalities of placenta or umbilical cord	3190	HNRNPK	OMIM:616580
HP:0001194	Abnormalities of placenta or umbilical cord	3339	HSPG2	OMIM:224410
HP:0001194	Abnormalities of placenta or umbilical cord	3339	HSPG2	ORPHA:1865
HP:0001194	Abnormalities of placenta or umbilical cord	84231	TRAF7	OMIM:618164
HP:0001194	Abnormalities of placenta or umbilical cord	10463	SLC30A9	OMIM:617595
HP:0001194	Abnormalities of placenta or umbilical cord	10274	STAG1	OMIM:617635
HP:0001194	Abnormalities of placenta or umbilical cord	55901	THSD1	OMIM:620244
HP:0001194	Abnormalities of placenta or umbilical cord	7473	WNT3	OMIM:273395
HP:0001194	Abnormalities of placenta or umbilical cord	3239	HOXD13	ORPHA:887
HP:0001194	Abnormalities of placenta or umbilical cord	28952	CCDC22	ORPHA:7
HP:0001194	Abnormalities of placenta or umbilical cord	57020	VPS35L	ORPHA:7
HP:0001194	Abnormalities of placenta or umbilical cord	56896	DPYSL5	ORPHA:7
HP:0001194	Abnormalities of placenta or umbilical cord	11011	TLK2	OMIM:618050
HP:0001194	Abnormalities of placenta or umbilical cord	1656	DDX6	OMIM:618653
HP:0001194	Abnormalities of placenta or umbilical cord	54903	MKS1	OMIM:249000
HP:0001194	Abnormalities of placenta or umbilical cord	23384	SPECC1L	OMIM:145420
HP:0001194	Abnormalities of placenta or umbilical cord	2783	GNB2	OMIM:619503
HP:0001194	Abnormalities of placenta or umbilical cord	5062	PAK2	OMIM:618458
HP:0001194	Abnormalities of placenta or umbilical cord	79633	FAT4	OMIM:615546
HP:0001194	Abnormalities of placenta or umbilical cord	4000	LMNA	ORPHA:1662
HP:0001194	Abnormalities of placenta or umbilical cord	10269	ZMPSTE24	ORPHA:1662
HP:0001194	Abnormalities of placenta or umbilical cord	10269	ZMPSTE24	OMIM:275210
HP:0001194	Abnormalities of placenta or umbilical cord	57211	ADGRG6	OMIM:616503
HP:0001194	Abnormalities of placenta or umbilical cord	10588	MTHFS	OMIM:618367
HP:0001194	Abnormalities of placenta or umbilical cord	4593	MUSK	OMIM:208150
HP:0001194	Abnormalities of placenta or umbilical cord	26227	PHGDH	OMIM:256520
HP:0001194	Abnormalities of placenta or umbilical cord	5324	PLAG1	ORPHA:397590
HP:0001194	Abnormalities of placenta or umbilical cord	8091	HMGA2	ORPHA:397590
HP:0001194	Abnormalities of placenta or umbilical cord	3479	IGF1	ORPHA:73272
HP:0001194	Abnormalities of placenta or umbilical cord	3930	LBR	OMIM:215140
HP:0001194	Abnormalities of placenta or umbilical cord	388015	RTL1	ORPHA:254534
HP:0001194	Abnormalities of placenta or umbilical cord	388015	RTL1	ORPHA:96334
HP:0001194	Abnormalities of placenta or umbilical cord	388015	RTL1	ORPHA:254528
HP:0001194	Abnormalities of placenta or umbilical cord	8788	DLK1	ORPHA:254534
HP:0001194	Abnormalities of placenta or umbilical cord	8788	DLK1	ORPHA:96334
HP:0001194	Abnormalities of placenta or umbilical cord	8788	DLK1	ORPHA:254528
HP:0001194	Abnormalities of placenta or umbilical cord	55384	MEG3	ORPHA:254534
HP:0001194	Abnormalities of placenta or umbilical cord	55384	MEG3	ORPHA:96334
HP:0001194	Abnormalities of placenta or umbilical cord	55384	MEG3	ORPHA:254528
HP:0001194	Abnormalities of placenta or umbilical cord	4014	LORICRIN	OMIM:604117
HP:0001194	Abnormalities of placenta or umbilical cord	51371	POMP	OMIM:601952
HP:0001194	Abnormalities of placenta or umbilical cord	2706	GJB2	ORPHA:494
HP:0001194	Abnormalities of placenta or umbilical cord	2706	GJB2	OMIM:124500
HP:0001194	Abnormalities of placenta or umbilical cord	8626	TP63	ORPHA:1072
HP:0001194	Abnormalities of placenta or umbilical cord	162514	TRPV3	OMIM:614594
HP:0001194	Abnormalities of placenta or umbilical cord	25959	KANK2	OMIM:616099
HP:0001194	Abnormalities of placenta or umbilical cord	2733	GLE1	ORPHA:1486
HP:0001194	Abnormalities of placenta or umbilical cord	55612	FERMT1	OMIM:173650
HP:0001194	Abnormalities of placenta or umbilical cord	3848	KRT1	OMIM:146590
HP:0001194	Abnormalities of placenta or umbilical cord	56916	SMARCAD1	ORPHA:1658
HP:0001194	Abnormalities of placenta or umbilical cord	2697	GJA1	ORPHA:1010
HP:0001194	Abnormalities of placenta or umbilical cord	2155	F7	ORPHA:327
HP:0001194	Abnormalities of placenta or umbilical cord	5447	POR	ORPHA:95699
HP:0001194	Abnormalities of placenta or umbilical cord	526	ATP6V1B2	ORPHA:79500
HP:0001194	Abnormalities of placenta or umbilical cord	57465	TBC1D24	ORPHA:79500
HP:0001194	Abnormalities of placenta or umbilical cord	2188	FANCF	OMIM:603467
HP:0001194	Abnormalities of placenta or umbilical cord	3075	CFH	ORPHA:244242
HP:0001194	Abnormalities of placenta or umbilical cord	3426	CFI	ORPHA:244242
HP:0001194	Abnormalities of placenta or umbilical cord	4179	CD46	ORPHA:244242
HP:0001194	Abnormalities of placenta or umbilical cord	101101692	HELLPAR	ORPHA:244242
HP:0001194	Abnormalities of placenta or umbilical cord	2165	F13B	ORPHA:331
HP:0001194	Abnormalities of placenta or umbilical cord	2162	F13A1	ORPHA:331
HP:0001194	Abnormalities of placenta or umbilical cord	5054	SERPINE1	ORPHA:465
HP:0001194	Abnormalities of placenta or umbilical cord	1028	CDKN1C	OMIM:130650
HP:0001194	Abnormalities of placenta or umbilical cord	3481	IGF2	OMIM:130650
HP:0001194	Abnormalities of placenta or umbilical cord	3784	KCNQ1	OMIM:130650
HP:0001194	Abnormalities of placenta or umbilical cord	10984	KCNQ1OT1	OMIM:130650
HP:0001194	Abnormalities of placenta or umbilical cord	199713	NLRP7	OMIM:231090
HP:0001194	Abnormalities of placenta or umbilical cord	154288	KHDC3L	OMIM:614293
HP:0001194	Abnormalities of placenta or umbilical cord	150365	MEI1	OMIM:618431
HP:0001194	Abnormalities of placenta or umbilical cord	79703	TOP6BL	OMIM:618432
HP:0001194	Abnormalities of placenta or umbilical cord	3689	ITGB2	OMIM:116920
HP:0001194	Abnormalities of placenta or umbilical cord	5880	RAC2	OMIM:608203
HP:0001194	Abnormalities of placenta or umbilical cord	3572	IL6ST	OMIM:619752
HP:0001194	Abnormalities of placenta or umbilical cord	4615	MYD88	OMIM:612260
HP:0001194	Abnormalities of placenta or umbilical cord	6603	SMARCD2	OMIM:617475
HP:0001194	Abnormalities of placenta or umbilical cord	10616	RBCK1	OMIM:615895
HP:0001194	Abnormalities of placenta or umbilical cord	92579	G6PC3	OMIM:612541
HP:0001194	Abnormalities of placenta or umbilical cord	2215	FCGR3B	ORPHA:464370
HP:0001194	Abnormalities of placenta or umbilical cord	55072	RNF31	OMIM:620632
HP:0001194	Abnormalities of placenta or umbilical cord	81570	CLPB	OMIM:619835
HP:0001194	Abnormalities of placenta or umbilical cord	714	C1QC	OMIM:620322
HP:0001194	Abnormalities of placenta or umbilical cord	10092	ARPC5	OMIM:620565
HP:0001194	Abnormalities of placenta or umbilical cord	2321	FLT1	ORPHA:275555
HP:0001194	Abnormalities of placenta or umbilical cord	219736	STOX1	ORPHA:275555
HP:0001194	Abnormalities of placenta or umbilical cord	10699	CORIN	ORPHA:275555
HP:0001194	Abnormalities of placenta or umbilical cord	2720	GLB1	ORPHA:79255
HP:0001194	Abnormalities of placenta or umbilical cord	57061	HYMAI	ORPHA:96191
HP:0001194	Abnormalities of placenta or umbilical cord	5325	PLAGL1	ORPHA:96191
HP:0001194	Abnormalities of placenta or umbilical cord	6711	SPTBN1	OMIM:619475
HP:0001194	Abnormalities of placenta or umbilical cord	7157	TP53	OMIM:151623
HP:0001194	Abnormalities of placenta or umbilical cord	7157	TP53	ORPHA:524
HP:0001194	Abnormalities of placenta or umbilical cord	1029	CDKN2A	ORPHA:524
HP:0001194	Abnormalities of placenta or umbilical cord	4193	MDM2	ORPHA:524
HP:0001194	Abnormalities of placenta or umbilical cord	11200	CHEK2	ORPHA:524
HP:0001194	Abnormalities of placenta or umbilical cord	8915	BCL10	OMIM:273300
HP:0001194	Abnormalities of placenta or umbilical cord	2261	FGFR3	OMIM:273300
HP:0001194	Abnormalities of placenta or umbilical cord	3815	KIT	OMIM:273300
HP:0001194	Abnormalities of placenta or umbilical cord	6794	STK11	OMIM:273300
HP:0001195	Single umbilical artery	2294	FOXF1	OMIM:265380
HP:0001195	Single umbilical artery	2294	FOXF1	ORPHA:210122
HP:0001195	Single umbilical artery	7490	WT1	OMIM:608978
HP:0001195	Single umbilical artery	5447	POR	OMIM:201750
HP:0001195	Single umbilical artery	5977	DPF2	OMIM:618027
HP:0001195	Single umbilical artery	2187	FANCB	OMIM:300514
HP:0001195	Single umbilical artery	2187	FANCB	ORPHA:3412
HP:0001195	Single umbilical artery	2627	GATA6	ORPHA:2255
HP:0001195	Single umbilical artery	2627	GATA6	OMIM:600001
HP:0001195	Single umbilical artery	4076	CAPRIN1	OMIM:620782
HP:0001195	Single umbilical artery	374879	ZNF699	OMIM:619488
HP:0001195	Single umbilical artery	91179	SCARF2	OMIM:600920
HP:0001195	Single umbilical artery	117581	TWIST2	OMIM:200110
HP:0001195	Single umbilical artery	54870	QRICH1	OMIM:617982
HP:0001195	Single umbilical artery	79803	HPS6	OMIM:614075
HP:0001195	Single umbilical artery	202018	TAPT1	OMIM:616897
HP:0001195	Single umbilical artery	4893	NRAS	OMIM:613224
HP:0001195	Single umbilical artery	55784	MCTP2	ORPHA:1596
HP:0001195	Single umbilical artery	55690	PACS1	OMIM:615009
HP:0001195	Single umbilical artery	55690	PACS1	ORPHA:329224
HP:0001195	Single umbilical artery	4149	MAX	OMIM:620712
HP:0001195	Single umbilical artery	4625	MYH7	OMIM:613426
HP:0001195	Single umbilical artery	2188	FANCF	OMIM:603467
HP:0001195	Single umbilical artery	9897	WASHC5	OMIM:220210
HP:0001195	Single umbilical artery	9897	WASHC5	ORPHA:7
HP:0001195	Single umbilical artery	775	CACNA1C	OMIM:601005
HP:0001195	Single umbilical artery	84992	PIGY	ORPHA:247262
HP:0001195	Single umbilical artery	84720	PIGO	ORPHA:247262
HP:0001195	Single umbilical artery	93210	PGAP3	ORPHA:247262
HP:0001195	Single umbilical artery	284098	PIGW	ORPHA:247262
HP:0001195	Single umbilical artery	27315	PGAP2	ORPHA:247262
HP:0001195	Single umbilical artery	55650	PIGV	ORPHA:247262
HP:0001195	Single umbilical artery	9487	PIGL	ORPHA:247262
HP:0001195	Single umbilical artery	3190	HNRNPK	OMIM:616580
HP:0001195	Single umbilical artery	3339	HSPG2	OMIM:224410
HP:0001195	Single umbilical artery	3339	HSPG2	ORPHA:1865
HP:0001195	Single umbilical artery	84231	TRAF7	OMIM:618164
HP:0001195	Single umbilical artery	10463	SLC30A9	OMIM:617595
HP:0001195	Single umbilical artery	10274	STAG1	OMIM:617635
HP:0001195	Single umbilical artery	55901	THSD1	OMIM:620244
HP:0001195	Single umbilical artery	7473	WNT3	OMIM:273395
HP:0001195	Single umbilical artery	3239	HOXD13	ORPHA:887
HP:0001195	Single umbilical artery	28952	CCDC22	ORPHA:7
HP:0001195	Single umbilical artery	57020	VPS35L	ORPHA:7
HP:0001195	Single umbilical artery	56896	DPYSL5	ORPHA:7
HP:0001195	Single umbilical artery	11011	TLK2	OMIM:618050
HP:0001195	Single umbilical artery	1656	DDX6	OMIM:618653
HP:0001195	Single umbilical artery	54903	MKS1	OMIM:249000
HP:0001195	Single umbilical artery	23384	SPECC1L	OMIM:145420
HP:0001195	Single umbilical artery	2783	GNB2	OMIM:619503
HP:0001195	Single umbilical artery	5062	PAK2	OMIM:618458
HP:0001195	Single umbilical artery	79633	FAT4	OMIM:615546
HP:0001196	Short umbilical cord	4000	LMNA	ORPHA:1662
HP:0001196	Short umbilical cord	10269	ZMPSTE24	ORPHA:1662
HP:0001196	Short umbilical cord	10269	ZMPSTE24	OMIM:275210
HP:0001196	Short umbilical cord	57211	ADGRG6	OMIM:616503
HP:0001196	Short umbilical cord	10588	MTHFS	OMIM:618367
HP:0001196	Short umbilical cord	4593	MUSK	OMIM:208150
HP:0001196	Short umbilical cord	26227	PHGDH	OMIM:256520
HP:0001197	Abnormality of prenatal development or birth	1947	EFNB1	ORPHA:1520
HP:0001197	Abnormality of prenatal development or birth	1317	SLC31A1	OMIM:620306
HP:0001197	Abnormality of prenatal development or birth	3708	ITPR1	OMIM:117360
HP:0001197	Abnormality of prenatal development or birth	3911	LAMA5	OMIM:620076
HP:0001197	Abnormality of prenatal development or birth	139818	DOCK11	OMIM:301109
HP:0001197	Abnormality of prenatal development or birth	6237	RRAS	ORPHA:648
HP:0001197	Abnormality of prenatal development or birth	22808	MRAS	ORPHA:648
HP:0001197	Abnormality of prenatal development or birth	6655	SOS2	ORPHA:648
HP:0001197	Abnormality of prenatal development or birth	5781	PTPN11	ORPHA:648
HP:0001197	Abnormality of prenatal development or birth	5922	RASA2	ORPHA:648
HP:0001197	Abnormality of prenatal development or birth	84342	COG8	OMIM:611182
HP:0001197	Abnormality of prenatal development or birth	25978	CHMP2B	ORPHA:275864
HP:0001197	Abnormality of prenatal development or birth	25978	CHMP2B	ORPHA:100070
HP:0001197	Abnormality of prenatal development or birth	5663	PSEN1	ORPHA:275864
HP:0001197	Abnormality of prenatal development or birth	5663	PSEN1	ORPHA:100070
HP:0001197	Abnormality of prenatal development or birth	2896	GRN	ORPHA:275864
HP:0001197	Abnormality of prenatal development or birth	2896	GRN	ORPHA:100070
HP:0001197	Abnormality of prenatal development or birth	54664	TMEM106B	ORPHA:275864
HP:0001197	Abnormality of prenatal development or birth	54664	TMEM106B	ORPHA:100070
HP:0001197	Abnormality of prenatal development or birth	8878	SQSTM1	ORPHA:275864
HP:0001197	Abnormality of prenatal development or birth	4137	MAPT	ORPHA:275864
HP:0001197	Abnormality of prenatal development or birth	4137	MAPT	ORPHA:100070
HP:0001197	Abnormality of prenatal development or birth	54209	TREM2	ORPHA:275864
HP:0001197	Abnormality of prenatal development or birth	54209	TREM2	ORPHA:100070
HP:0001197	Abnormality of prenatal development or birth	7415	VCP	ORPHA:275864
HP:0001197	Abnormality of prenatal development or birth	7415	VCP	ORPHA:100070
HP:0001197	Abnormality of prenatal development or birth	26834	RNU4-2	OMIM:620851
HP:0001197	Abnormality of prenatal development or birth	9652	SKIC3	OMIM:222470
HP:0001197	Abnormality of prenatal development or birth	7490	WT1	OMIM:608978
HP:0001197	Abnormality of prenatal development or birth	4076	CAPRIN1	OMIM:620782
HP:0001197	Abnormality of prenatal development or birth	91179	SCARF2	OMIM:600920
HP:0001197	Abnormality of prenatal development or birth	117581	TWIST2	OMIM:200110
HP:0001197	Abnormality of prenatal development or birth	54870	QRICH1	OMIM:617982
HP:0001197	Abnormality of prenatal development or birth	79803	HPS6	OMIM:614075
HP:0001197	Abnormality of prenatal development or birth	55690	PACS1	OMIM:615009
HP:0001197	Abnormality of prenatal development or birth	55690	PACS1	ORPHA:329224
HP:0001197	Abnormality of prenatal development or birth	4149	MAX	OMIM:620712
HP:0001197	Abnormality of prenatal development or birth	9897	WASHC5	OMIM:220210
HP:0001197	Abnormality of prenatal development or birth	9897	WASHC5	ORPHA:7
HP:0001197	Abnormality of prenatal development or birth	10463	SLC30A9	OMIM:617595
HP:0001197	Abnormality of prenatal development or birth	10274	STAG1	OMIM:617635
HP:0001197	Abnormality of prenatal development or birth	55901	THSD1	OMIM:620244
HP:0001197	Abnormality of prenatal development or birth	28952	CCDC22	ORPHA:7
HP:0001197	Abnormality of prenatal development or birth	57020	VPS35L	ORPHA:7
HP:0001197	Abnormality of prenatal development or birth	56896	DPYSL5	ORPHA:7
HP:0001197	Abnormality of prenatal development or birth	11011	TLK2	OMIM:618050
HP:0001197	Abnormality of prenatal development or birth	23384	SPECC1L	OMIM:145420
HP:0001197	Abnormality of prenatal development or birth	5062	PAK2	OMIM:618458
HP:0001197	Abnormality of prenatal development or birth	10682	EBP	ORPHA:35173
HP:0001197	Abnormality of prenatal development or birth	801	CALM1	ORPHA:101016
HP:0001197	Abnormality of prenatal development or birth	3753	KCNE1	ORPHA:101016
HP:0001197	Abnormality of prenatal development or birth	3762	KCNJ5	ORPHA:101016
HP:0001197	Abnormality of prenatal development or birth	805	CALM2	ORPHA:101016
HP:0001197	Abnormality of prenatal development or birth	6910	TBX5	ORPHA:101016
HP:0001197	Abnormality of prenatal development or birth	6336	SCN10A	ORPHA:101016
HP:0001197	Abnormality of prenatal development or birth	3757	KCNH2	ORPHA:101016
HP:0001197	Abnormality of prenatal development or birth	9992	KCNE2	ORPHA:101016
HP:0001197	Abnormality of prenatal development or birth	10142	AKAP9	ORPHA:101016
HP:0001197	Abnormality of prenatal development or birth	9722	NOS1AP	ORPHA:101016
HP:0001197	Abnormality of prenatal development or birth	775	CACNA1C	ORPHA:101016
HP:0001197	Abnormality of prenatal development or birth	3784	KCNQ1	ORPHA:101016
HP:0001197	Abnormality of prenatal development or birth	10345	TRDN	ORPHA:101016
HP:0001197	Abnormality of prenatal development or birth	6331	SCN5A	ORPHA:101016
HP:0001197	Abnormality of prenatal development or birth	6330	SCN4B	ORPHA:101016
HP:0001197	Abnormality of prenatal development or birth	808	CALM3	ORPHA:101016
HP:0001197	Abnormality of prenatal development or birth	6640	SNTA1	ORPHA:101016
HP:0001197	Abnormality of prenatal development or birth	859	CAV3	ORPHA:101016
HP:0001197	Abnormality of prenatal development or birth	287	ANK2	ORPHA:101016
HP:0001197	Abnormality of prenatal development or birth	1583	CYP11A1	ORPHA:289548
HP:0001197	Abnormality of prenatal development or birth	1583	CYP11A1	ORPHA:168558
HP:0001197	Abnormality of prenatal development or birth	6304	SATB1	OMIM:619229
HP:0001197	Abnormality of prenatal development or birth	404672	GTF2H5	ORPHA:33364
HP:0001197	Abnormality of prenatal development or birth	833	CARS1	ORPHA:33364
HP:0001197	Abnormality of prenatal development or birth	2068	ERCC2	ORPHA:33364
HP:0001197	Abnormality of prenatal development or birth	7737	RNF113A	ORPHA:33364
HP:0001197	Abnormality of prenatal development or birth	136647	MPLKIP	ORPHA:33364
HP:0001197	Abnormality of prenatal development or birth	6897	TARS1	ORPHA:33364
HP:0001197	Abnormality of prenatal development or birth	16	AARS1	ORPHA:33364
HP:0001197	Abnormality of prenatal development or birth	2071	ERCC3	ORPHA:33364
HP:0001197	Abnormality of prenatal development or birth	2961	GTF2E2	ORPHA:33364
HP:0001197	Abnormality of prenatal development or birth	4359	MPZ	OMIM:618184
HP:0001197	Abnormality of prenatal development or birth	1145	CHRNE	OMIM:608931
HP:0001197	Abnormality of prenatal development or birth	2673	GFPT1	OMIM:608931
HP:0001197	Abnormality of prenatal development or birth	27238	GPKOW	ORPHA:2570
HP:0001197	Abnormality of prenatal development or birth	51126	NAA20	OMIM:619717
HP:0001197	Abnormality of prenatal development or birth	10059	DNM1L	OMIM:614388
HP:0001197	Abnormality of prenatal development or birth	1355	COX15	OMIM:615119
HP:0001197	Abnormality of prenatal development or birth	10102	TSFM	OMIM:610505
HP:0001197	Abnormality of prenatal development or birth	1303	COL12A1	ORPHA:75840
HP:0001197	Abnormality of prenatal development or birth	1291	COL6A1	ORPHA:75840
HP:0001197	Abnormality of prenatal development or birth	1291	COL6A1	OMIM:158810
HP:0001197	Abnormality of prenatal development or birth	1292	COL6A2	ORPHA:75840
HP:0001197	Abnormality of prenatal development or birth	1292	COL6A2	OMIM:620727
HP:0001197	Abnormality of prenatal development or birth	1293	COL6A3	ORPHA:75840
HP:0001197	Abnormality of prenatal development or birth	59341	TRPV4	OMIM:156530
HP:0001197	Abnormality of prenatal development or birth	59341	TRPV4	OMIM:600175
HP:0001197	Abnormality of prenatal development or birth	2073	ERCC5	OMIM:616570
HP:0001197	Abnormality of prenatal development or birth	23114	NFASC	OMIM:618356
HP:0001197	Abnormality of prenatal development or birth	84466	MEGF10	OMIM:614399
HP:0001197	Abnormality of prenatal development or birth	1763	DNA2	ORPHA:352470
HP:0001197	Abnormality of prenatal development or birth	2314	FLII	ORPHA:819
HP:0001197	Abnormality of prenatal development or birth	23096	IQSEC2	ORPHA:819
HP:0001197	Abnormality of prenatal development or birth	10743	RAI1	ORPHA:819
HP:0001197	Abnormality of prenatal development or birth	10522	DEAF1	ORPHA:819
HP:0001197	Abnormality of prenatal development or birth	10073	SNUPN	OMIM:620793
HP:0001197	Abnormality of prenatal development or birth	64324	NSD1	OMIM:117550
HP:0001197	Abnormality of prenatal development or birth	146862	UNC45B	OMIM:619178
HP:0001197	Abnormality of prenatal development or birth	23511	NUP188	OMIM:618804
HP:0001197	Abnormality of prenatal development or birth	1147	CHUK	OMIM:613630
HP:0001197	Abnormality of prenatal development or birth	6606	SMN1	OMIM:253300
HP:0001197	Abnormality of prenatal development or birth	10815	CPLX1	ORPHA:280
HP:0001197	Abnormality of prenatal development or birth	10815	CPLX1	OMIM:194190
HP:0001197	Abnormality of prenatal development or birth	54872	PIGG	ORPHA:280
HP:0001197	Abnormality of prenatal development or birth	7469	NELFA	ORPHA:280
HP:0001197	Abnormality of prenatal development or birth	1487	CTBP1	ORPHA:280
HP:0001197	Abnormality of prenatal development or birth	1487	CTBP1	OMIM:194190
HP:0001197	Abnormality of prenatal development or birth	3954	LETM1	ORPHA:280
HP:0001197	Abnormality of prenatal development or birth	3954	LETM1	OMIM:194190
HP:0001197	Abnormality of prenatal development or birth	7468	NSD2	ORPHA:280
HP:0001197	Abnormality of prenatal development or birth	7468	NSD2	OMIM:194190
HP:0001197	Abnormality of prenatal development or birth	51651	PTRH2	ORPHA:456312
HP:0001197	Abnormality of prenatal development or birth	51651	PTRH2	OMIM:616263
HP:0001197	Abnormality of prenatal development or birth	2906	GRIN2D	OMIM:617162
HP:0001197	Abnormality of prenatal development or birth	2906	GRIN2D	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	7317	UBA1	OMIM:301830
HP:0001197	Abnormality of prenatal development or birth	3560	IL2RB	OMIM:618495
HP:0001197	Abnormality of prenatal development or birth	6885	MAP3K7	OMIM:157800
HP:0001197	Abnormality of prenatal development or birth	3737	KCNA2	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	1759	DNM1	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	8120	AP3B2	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	523	ATP6V1A	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	10991	SLC38A3	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	51343	FZR1	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	3747	KCNC2	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	23219	FBXO28	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	23219	FBXO28	OMIM:619777
HP:0001197	Abnormality of prenatal development or birth	2561	GABRB2	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	8831	SYNGAP1	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	2558	GABRA5	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	116150	NUS1	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	1213	CLTC	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	348980	HCN1	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	25977	NECAP1	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	25977	NECAP1	OMIM:615833
HP:0001197	Abnormality of prenatal development or birth	23241	PACS2	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	9568	GABBR2	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	2555	GABRA2	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	26999	CYFIP2	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	4915	NTRK2	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	25973	PARS2	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	23097	CDK19	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	2257	FGF12	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	478	ATP1A3	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	22906	TRAK1	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	2566	GABRG2	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	7532	YWHAG	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	79876	UBA5	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	6328	SCN3A	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	781	CACNA2D1	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	10659	CELF2	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	774	CACNA1B	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	51412	ACTL6B	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	2290	FOXG1	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	6506	SLC1A2	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	8867	SYNJ1	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	3745	KCNB1	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	284111	SLC13A5	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	22866	CNKSR2	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	773	CACNA1A	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	6323	SCN1A	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	79947	DHDDS	ORPHA:442835
HP:0001197	Abnormality of prenatal development or birth	53834	FGFRL1	OMIM:194190
HP:0001197	Abnormality of prenatal development or birth	60386	SLC25A19	ORPHA:99742
HP:0001197	Abnormality of prenatal development or birth	1798	DPAGT1	ORPHA:86309
HP:0001197	Abnormality of prenatal development or birth	7874	USP7	ORPHA:500055
HP:0001197	Abnormality of prenatal development or birth	157680	VPS13B	ORPHA:193
HP:0001197	Abnormality of prenatal development or birth	9453	GGPS1	OMIM:619518
HP:0001197	Abnormality of prenatal development or birth	51692	CPSF3	OMIM:619876
HP:0001197	Abnormality of prenatal development or birth	8364	H4C3	OMIM:619758
HP:0001197	Abnormality of prenatal development or birth	163175	LGI4	OMIM:617468
HP:0001197	Abnormality of prenatal development or birth	55164	SHQ1	OMIM:619922
HP:0001197	Abnormality of prenatal development or birth	6519	SLC3A1	ORPHA:163690
HP:0001197	Abnormality of prenatal development or birth	6519	SLC3A1	ORPHA:163693
HP:0001197	Abnormality of prenatal development or birth	9581	PREPL	ORPHA:163690
HP:0001197	Abnormality of prenatal development or birth	9581	PREPL	ORPHA:163693
HP:0001197	Abnormality of prenatal development or birth	51244	CCDC174	OMIM:616816
HP:0001197	Abnormality of prenatal development or birth	6663	SOX10	OMIM:609136
HP:0001197	Abnormality of prenatal development or birth	5495	PPM1B	ORPHA:163693
HP:0001197	Abnormality of prenatal development or birth	79823	CAMKMT	ORPHA:163693
HP:0001197	Abnormality of prenatal development or birth	729920	CRPPA	OMIM:614643
HP:0001197	Abnormality of prenatal development or birth	5430	POLR2A	OMIM:618603
HP:0001197	Abnormality of prenatal development or birth	58497	PRUNE1	OMIM:617481
HP:0001197	Abnormality of prenatal development or birth	54101	RIPK4	OMIM:263650
HP:0001197	Abnormality of prenatal development or birth	5081	PAX7	OMIM:618578
HP:0001197	Abnormality of prenatal development or birth	389827	MYMK	OMIM:254940
HP:0001197	Abnormality of prenatal development or birth	55163	PNPO	ORPHA:79096
HP:0001197	Abnormality of prenatal development or birth	3030	HADHA	OMIM:609015
HP:0001197	Abnormality of prenatal development or birth	7390	UROS	ORPHA:79277
HP:0001197	Abnormality of prenatal development or birth	2623	GATA1	ORPHA:79277
HP:0001197	Abnormality of prenatal development or birth	56052	ALG1	OMIM:608540
HP:0001197	Abnormality of prenatal development or birth	5373	PMM2	OMIM:212065
HP:0001197	Abnormality of prenatal development or birth	7389	UROD	ORPHA:95159
HP:0001197	Abnormality of prenatal development or birth	2733	GLE1	OMIM:253310
HP:0001197	Abnormality of prenatal development or birth	2137	EXTL3	ORPHA:508533
HP:0001197	Abnormality of prenatal development or birth	2137	EXTL3	OMIM:617425
HP:0001197	Abnormality of prenatal development or birth	83483	PLVAP	OMIM:618183
HP:0001197	Abnormality of prenatal development or birth	2294	FOXF1	OMIM:265380
HP:0001197	Abnormality of prenatal development or birth	8036	SHOC2	OMIM:607721
HP:0001197	Abnormality of prenatal development or birth	3763	KCNJ6	ORPHA:435628
HP:0001197	Abnormality of prenatal development or birth	3763	KCNJ6	OMIM:614098
HP:0001197	Abnormality of prenatal development or birth	4621	MYH3	ORPHA:2053
HP:0001197	Abnormality of prenatal development or birth	4621	MYH3	OMIM:193700
HP:0001197	Abnormality of prenatal development or birth	259232	NALCN	ORPHA:2053
HP:0001197	Abnormality of prenatal development or birth	199857	ALG14	OMIM:619036
HP:0001197	Abnormality of prenatal development or birth	104	ADARB1	OMIM:618862
HP:0001197	Abnormality of prenatal development or birth	10046	MAMLD1	ORPHA:456328
HP:0001197	Abnormality of prenatal development or birth	2304	FOXE1	OMIM:241850
HP:0001197	Abnormality of prenatal development or birth	2304	FOXE1	ORPHA:1226
HP:0001197	Abnormality of prenatal development or birth	8506	CNTNAP1	OMIM:618186
HP:0001197	Abnormality of prenatal development or birth	8506	CNTNAP1	OMIM:616286
HP:0001197	Abnormality of prenatal development or birth	5339	PLEC	ORPHA:158684
HP:0001197	Abnormality of prenatal development or birth	5339	PLEC	OMIM:226730
HP:0001197	Abnormality of prenatal development or birth	5339	PLEC	OMIM:612138
HP:0001197	Abnormality of prenatal development or birth	3691	ITGB4	ORPHA:158684
HP:0001197	Abnormality of prenatal development or birth	3691	ITGB4	ORPHA:79403
HP:0001197	Abnormality of prenatal development or birth	3691	ITGB4	OMIM:226730
HP:0001197	Abnormality of prenatal development or birth	55503	TRPV6	OMIM:618188
HP:0001197	Abnormality of prenatal development or birth	23334	SZT2	OMIM:615476
HP:0001197	Abnormality of prenatal development or birth	6016	RIT1	OMIM:615355
HP:0001197	Abnormality of prenatal development or birth	23556	PIGN	ORPHA:2059
HP:0001197	Abnormality of prenatal development or birth	23556	PIGN	OMIM:614080
HP:0001197	Abnormality of prenatal development or birth	57539	WDR35	OMIM:613610
HP:0001197	Abnormality of prenatal development or birth	5894	RAF1	OMIM:611553
HP:0001197	Abnormality of prenatal development or birth	4897	NRCAM	OMIM:619833
HP:0001197	Abnormality of prenatal development or birth	145173	B3GLCT	ORPHA:709
HP:0001197	Abnormality of prenatal development or birth	145173	B3GLCT	OMIM:261540
HP:0001197	Abnormality of prenatal development or birth	22800	RRAS2	OMIM:618624
HP:0001197	Abnormality of prenatal development or birth	8854	ALDH1A2	OMIM:620025
HP:0001197	Abnormality of prenatal development or birth	3636	INPPL1	ORPHA:3144
HP:0001197	Abnormality of prenatal development or birth	3636	INPPL1	OMIM:258480
HP:0001197	Abnormality of prenatal development or birth	23169	SLC35D1	ORPHA:3144
HP:0001197	Abnormality of prenatal development or birth	23169	SLC35D1	OMIM:269250
HP:0001197	Abnormality of prenatal development or birth	2261	FGFR3	ORPHA:93274
HP:0001197	Abnormality of prenatal development or birth	2261	FGFR3	ORPHA:1860
HP:0001197	Abnormality of prenatal development or birth	2261	FGFR3	OMIM:100800
HP:0001197	Abnormality of prenatal development or birth	2261	FGFR3	OMIM:187601
HP:0001197	Abnormality of prenatal development or birth	2261	FGFR3	OMIM:187600
HP:0001197	Abnormality of prenatal development or birth	126792	B3GALT6	OMIM:609465
HP:0001197	Abnormality of prenatal development or birth	3655	ITGA6	ORPHA:79403
HP:0001197	Abnormality of prenatal development or birth	4487	MSX1	ORPHA:199302
HP:0001197	Abnormality of prenatal development or birth	5818	NECTIN1	ORPHA:199302
HP:0001197	Abnormality of prenatal development or birth	8626	TP63	ORPHA:199302
HP:0001197	Abnormality of prenatal development or birth	3664	IRF6	ORPHA:199302
HP:0001197	Abnormality of prenatal development or birth	1836	SLC26A2	ORPHA:56304
HP:0001197	Abnormality of prenatal development or birth	1836	SLC26A2	OMIM:600972
HP:0001197	Abnormality of prenatal development or birth	1836	SLC26A2	ORPHA:93298
HP:0001197	Abnormality of prenatal development or birth	7169	TPM2	ORPHA:171436
HP:0001197	Abnormality of prenatal development or birth	7169	TPM2	ORPHA:2020
HP:0001197	Abnormality of prenatal development or birth	7169	TPM2	ORPHA:171439
HP:0001197	Abnormality of prenatal development or birth	1073	CFL2	ORPHA:171436
HP:0001197	Abnormality of prenatal development or birth	51112	TRAPPC12	ORPHA:500144
HP:0001197	Abnormality of prenatal development or birth	249	ALPL	OMIM:241500
HP:0001197	Abnormality of prenatal development or birth	9578	CDC42BPB	OMIM:619841
HP:0001197	Abnormality of prenatal development or birth	80816	ASXL3	OMIM:615485
HP:0001197	Abnormality of prenatal development or birth	1785	DNM2	OMIM:615368
HP:0001197	Abnormality of prenatal development or birth	1785	DNM2	ORPHA:169189
HP:0001197	Abnormality of prenatal development or birth	1841	DTYMK	OMIM:619847
HP:0001197	Abnormality of prenatal development or birth	22858	CILK1	OMIM:612651
HP:0001197	Abnormality of prenatal development or birth	477	ATP1A2	OMIM:619602
HP:0001197	Abnormality of prenatal development or birth	2132	EXT2	ORPHA:466926
HP:0001197	Abnormality of prenatal development or birth	6662	SOX9	OMIM:114290
HP:0001197	Abnormality of prenatal development or birth	6662	SOX9	ORPHA:718
HP:0001197	Abnormality of prenatal development or birth	9200	HACD1	OMIM:619967
HP:0001197	Abnormality of prenatal development or birth	9200	HACD1	ORPHA:2020
HP:0001197	Abnormality of prenatal development or birth	429	ASCL1	ORPHA:99803
HP:0001197	Abnormality of prenatal development or birth	8929	PHOX2B	ORPHA:99803
HP:0001197	Abnormality of prenatal development or birth	55636	CHD7	ORPHA:138
HP:0001197	Abnormality of prenatal development or birth	55636	CHD7	OMIM:214800
HP:0001197	Abnormality of prenatal development or birth	9723	SEMA3E	ORPHA:138
HP:0001197	Abnormality of prenatal development or birth	2188	FANCF	OMIM:603467
HP:0001197	Abnormality of prenatal development or birth	7125	TNNC2	OMIM:620161
HP:0001197	Abnormality of prenatal development or birth	535	ATP6V0A1	OMIM:619971
HP:0001197	Abnormality of prenatal development or birth	83871	RAB34	OMIM:620718
HP:0001197	Abnormality of prenatal development or birth	23522	KAT6B	OMIM:606170
HP:0001197	Abnormality of prenatal development or birth	23522	KAT6B	ORPHA:3047
HP:0001197	Abnormality of prenatal development or birth	6261	RYR1	OMIM:255320
HP:0001197	Abnormality of prenatal development or birth	6261	RYR1	ORPHA:169189
HP:0001197	Abnormality of prenatal development or birth	6261	RYR1	ORPHA:98905
HP:0001197	Abnormality of prenatal development or birth	10606	PAICS	OMIM:619859
HP:0001197	Abnormality of prenatal development or birth	55681	SCYL2	OMIM:618766
HP:0001197	Abnormality of prenatal development or birth	93627	TBCK	OMIM:616900
HP:0001197	Abnormality of prenatal development or birth	55107	ANO1	OMIM:620045
HP:0001197	Abnormality of prenatal development or birth	283989	TSEN54	ORPHA:166063
HP:0001197	Abnormality of prenatal development or birth	283989	TSEN54	OMIM:277470
HP:0001197	Abnormality of prenatal development or birth	283989	TSEN54	OMIM:225753
HP:0001197	Abnormality of prenatal development or birth	4524	MTHFR	ORPHA:563612
HP:0001197	Abnormality of prenatal development or birth	57216	VANGL2	ORPHA:563612
HP:0001197	Abnormality of prenatal development or birth	55697	VAC14	ORPHA:3472
HP:0001197	Abnormality of prenatal development or birth	57190	SELENON	ORPHA:2020
HP:0001197	Abnormality of prenatal development or birth	4633	MYL2	ORPHA:2020
HP:0001197	Abnormality of prenatal development or birth	3679	ITGA7	ORPHA:2020
HP:0001197	Abnormality of prenatal development or birth	51776	MAP3K20	ORPHA:2020
HP:0001197	Abnormality of prenatal development or birth	9184	BUB3	ORPHA:1052
HP:0001197	Abnormality of prenatal development or birth	699	BUB1	ORPHA:1052
HP:0001197	Abnormality of prenatal development or birth	9702	CEP57	ORPHA:1052
HP:0001197	Abnormality of prenatal development or birth	9319	TRIP13	ORPHA:1052
HP:0001197	Abnormality of prenatal development or birth	701	BUB1B	ORPHA:1052
HP:0001197	Abnormality of prenatal development or birth	10203	CALCRL	OMIM:618773
HP:0001197	Abnormality of prenatal development or birth	4632	MYL1	OMIM:618414
HP:0001197	Abnormality of prenatal development or birth	200734	SPRED2	OMIM:619745
HP:0001197	Abnormality of prenatal development or birth	11193	WBP4	OMIM:620852
HP:0001197	Abnormality of prenatal development or birth	25942	SIN3A	OMIM:613406
HP:0001197	Abnormality of prenatal development or birth	3039	HBA1	ORPHA:163596
HP:0001197	Abnormality of prenatal development or birth	3040	HBA2	ORPHA:163596
HP:0001197	Abnormality of prenatal development or birth	26227	PHGDH	OMIM:256520
HP:0001197	Abnormality of prenatal development or birth	129563	DIS3L2	OMIM:267000
HP:0001197	Abnormality of prenatal development or birth	4953	ODC1	OMIM:619075
HP:0001197	Abnormality of prenatal development or birth	4953	ODC1	ORPHA:544488
HP:0001197	Abnormality of prenatal development or birth	57217	TTC7A	OMIM:243150
HP:0001197	Abnormality of prenatal development or birth	57217	TTC7A	ORPHA:2300
HP:0001197	Abnormality of prenatal development or birth	57217	TTC7A	ORPHA:436252
HP:0001197	Abnormality of prenatal development or birth	1280	COL2A1	OMIM:151210
HP:0001197	Abnormality of prenatal development or birth	1280	COL2A1	ORPHA:93316
HP:0001197	Abnormality of prenatal development or birth	1280	COL2A1	ORPHA:85166
HP:0001197	Abnormality of prenatal development or birth	1280	COL2A1	OMIM:200610
HP:0001197	Abnormality of prenatal development or birth	57498	KIDINS220	ORPHA:521390
HP:0001197	Abnormality of prenatal development or birth	57498	KIDINS220	OMIM:617296
HP:0001197	Abnormality of prenatal development or birth	57680	CHD8	OMIM:615032
HP:0001197	Abnormality of prenatal development or birth	56006	SMG9	OMIM:616920
HP:0001197	Abnormality of prenatal development or birth	6135	RPL11	OMIM:612562
HP:0001197	Abnormality of prenatal development or birth	100128927	ZBTB42	OMIM:616248
HP:0001197	Abnormality of prenatal development or birth	9091	PIGQ	OMIM:618548
HP:0001197	Abnormality of prenatal development or birth	23345	SYNE1	ORPHA:319332
HP:0001197	Abnormality of prenatal development or birth	54499	TMCO1	OMIM:213980
HP:0001197	Abnormality of prenatal development or birth	54499	TMCO1	ORPHA:1394
HP:0001197	Abnormality of prenatal development or birth	8085	KMT2D	OMIM:620186
HP:0001197	Abnormality of prenatal development or birth	8085	KMT2D	OMIM:147920
HP:0001197	Abnormality of prenatal development or birth	1859	DYRK1A	ORPHA:464311
HP:0001197	Abnormality of prenatal development or birth	84992	PIGY	OMIM:616809
HP:0001197	Abnormality of prenatal development or birth	51611	DPH5	OMIM:620070
HP:0001197	Abnormality of prenatal development or birth	554	AVPR2	ORPHA:223
HP:0001197	Abnormality of prenatal development or birth	359	AQP2	ORPHA:223
HP:0001197	Abnormality of prenatal development or birth	7547	ZIC3	OMIM:314390
HP:0001197	Abnormality of prenatal development or birth	7547	ZIC3	OMIM:306955
HP:0001197	Abnormality of prenatal development or birth	2187	FANCB	OMIM:314390
HP:0001197	Abnormality of prenatal development or birth	2187	FANCB	ORPHA:3412
HP:0001197	Abnormality of prenatal development or birth	59336	PRDM13	OMIM:619761
HP:0001197	Abnormality of prenatal development or birth	25802	LMOD1	ORPHA:2241
HP:0001197	Abnormality of prenatal development or birth	25802	LMOD1	OMIM:619362
HP:0001197	Abnormality of prenatal development or birth	4629	MYH11	ORPHA:2241
HP:0001197	Abnormality of prenatal development or birth	72	ACTG2	ORPHA:2241
HP:0001197	Abnormality of prenatal development or birth	72	ACTG2	OMIM:155310
HP:0001197	Abnormality of prenatal development or birth	4638	MYLK	ORPHA:2241
HP:0001197	Abnormality of prenatal development or birth	7841	MOGS	ORPHA:79330
HP:0001197	Abnormality of prenatal development or birth	2271	FH	OMIM:606812
HP:0001197	Abnormality of prenatal development or birth	3930	LBR	OMIM:215140
HP:0001197	Abnormality of prenatal development or birth	2239	GPC4	ORPHA:373
HP:0001197	Abnormality of prenatal development or birth	2239	GPC4	OMIM:312870
HP:0001197	Abnormality of prenatal development or birth	2719	GPC3	ORPHA:373
HP:0001197	Abnormality of prenatal development or birth	2719	GPC3	OMIM:312870
HP:0001197	Abnormality of prenatal development or birth	79989	IFT56	OMIM:619534
HP:0001197	Abnormality of prenatal development or birth	10848	PPP1R13L	OMIM:620519
HP:0001197	Abnormality of prenatal development or birth	64321	SOX17	OMIM:613674
HP:0001197	Abnormality of prenatal development or birth	84665	MYPN	ORPHA:171439
HP:0001197	Abnormality of prenatal development or birth	390594	KBTBD13	ORPHA:171439
HP:0001197	Abnormality of prenatal development or birth	9321	TRIP11	ORPHA:93299
HP:0001197	Abnormality of prenatal development or birth	9321	TRIP11	OMIM:200600
HP:0001197	Abnormality of prenatal development or birth	5048	PAFAH1B1	ORPHA:95232
HP:0001197	Abnormality of prenatal development or birth	5048	PAFAH1B1	ORPHA:531
HP:0001197	Abnormality of prenatal development or birth	3339	HSPG2	ORPHA:800
HP:0001197	Abnormality of prenatal development or birth	171023	ASXL1	OMIM:605039
HP:0001197	Abnormality of prenatal development or birth	81570	CLPB	OMIM:616271
HP:0001197	Abnormality of prenatal development or birth	91137	SLC25A46	OMIM:619303
HP:0001197	Abnormality of prenatal development or birth	8621	CDK13	OMIM:617360
HP:0001197	Abnormality of prenatal development or birth	867	CBL	OMIM:613563
HP:0001197	Abnormality of prenatal development or birth	29968	PSAT1	OMIM:616038
HP:0001197	Abnormality of prenatal development or birth	1134	CHRNA1	OMIM:253290
HP:0001197	Abnormality of prenatal development or birth	1146	CHRNG	OMIM:253290
HP:0001197	Abnormality of prenatal development or birth	1144	CHRND	OMIM:253290
HP:0001197	Abnormality of prenatal development or birth	55112	DYNC2I1	OMIM:615503
HP:0001197	Abnormality of prenatal development or birth	8216	LZTR1	OMIM:605275
HP:0001197	Abnormality of prenatal development or birth	6654	SOS1	OMIM:610733
HP:0001197	Abnormality of prenatal development or birth	78987	CRELD1	OMIM:620771
HP:0001197	Abnormality of prenatal development or birth	2263	FGFR2	OMIM:101200
HP:0001197	Abnormality of prenatal development or birth	9949	AMMECR1	OMIM:300990
HP:0001197	Abnormality of prenatal development or birth	55906	ZC4H2	OMIM:301041
HP:0001197	Abnormality of prenatal development or birth	112	ADCY6	OMIM:616287
HP:0001197	Abnormality of prenatal development or birth	9780	PIEZO1	OMIM:616843
HP:0001197	Abnormality of prenatal development or birth	2632	GBE1	OMIM:232500
HP:0001197	Abnormality of prenatal development or birth	89891	DYNC2I2	OMIM:615633
HP:0001197	Abnormality of prenatal development or birth	5396	PRRX1	OMIM:202650
HP:0001197	Abnormality of prenatal development or birth	5396	PRRX1	ORPHA:990
HP:0001197	Abnormality of prenatal development or birth	6334	SCN8A	OMIM:614306
HP:0001197	Abnormality of prenatal development or birth	8818	DPM2	ORPHA:329178
HP:0001197	Abnormality of prenatal development or birth	7473	WNT3	ORPHA:3301
HP:0001197	Abnormality of prenatal development or birth	340419	RSPO2	ORPHA:3301
HP:0001197	Abnormality of prenatal development or birth	9496	TBX4	ORPHA:3301
HP:0001197	Abnormality of prenatal development or birth	274	BIN1	ORPHA:169189
HP:0001197	Abnormality of prenatal development or birth	64419	MTMR14	ORPHA:169189
HP:0001197	Abnormality of prenatal development or birth	4618	MYF6	ORPHA:169189
HP:0001197	Abnormality of prenatal development or birth	100033413	SNORD116-1	OMIM:176270
HP:0001197	Abnormality of prenatal development or birth	8924	HERC2	OMIM:176270
HP:0001197	Abnormality of prenatal development or birth	23742	NPAP1	OMIM:176270
HP:0001197	Abnormality of prenatal development or birth	338433	SNORD115-1	OMIM:176270
HP:0001197	Abnormality of prenatal development or birth	7681	MKRN3	OMIM:176270
HP:0001197	Abnormality of prenatal development or birth	145624	PWAR1	OMIM:176270
HP:0001197	Abnormality of prenatal development or birth	3653	IPW	OMIM:176270
HP:0001197	Abnormality of prenatal development or birth	791114	PWRN1	OMIM:176270
HP:0001197	Abnormality of prenatal development or birth	55593	OTUD5	OMIM:301056
HP:0001197	Abnormality of prenatal development or birth	6647	SOD1	OMIM:618598
HP:0001197	Abnormality of prenatal development or birth	113179	ADAT3	ORPHA:363528
HP:0001197	Abnormality of prenatal development or birth	473	RERE	OMIM:616975
HP:0001197	Abnormality of prenatal development or birth	4893	NRAS	OMIM:613224
HP:0001197	Abnormality of prenatal development or birth	2033	EP300	ORPHA:353284
HP:0001197	Abnormality of prenatal development or birth	2033	EP300	OMIM:180849
HP:0001197	Abnormality of prenatal development or birth	55033	FKBP14	OMIM:614557
HP:0001197	Abnormality of prenatal development or birth	6513	SLC2A1	OMIM:608885
HP:0001197	Abnormality of prenatal development or birth	6904	TBCD	ORPHA:496641
HP:0001197	Abnormality of prenatal development or birth	2530	FUT8	OMIM:618005
HP:0001197	Abnormality of prenatal development or birth	1956	EGFR	OMIM:616069
HP:0001197	Abnormality of prenatal development or birth	54496	PRMT7	OMIM:617157
HP:0001197	Abnormality of prenatal development or birth	7019	TFAM	OMIM:617156
HP:0001197	Abnormality of prenatal development or birth	3643	INSR	OMIM:246200
HP:0001197	Abnormality of prenatal development or birth	6550	SLC9A3	OMIM:616868
HP:0001197	Abnormality of prenatal development or birth	80746	TSEN2	OMIM:612389
HP:0001197	Abnormality of prenatal development or birth	57211	ADGRG6	OMIM:616503
HP:0001197	Abnormality of prenatal development or birth	2917	GRM7	OMIM:618922
HP:0001197	Abnormality of prenatal development or birth	1312	COMT	ORPHA:567
HP:0001197	Abnormality of prenatal development or birth	221037	JMJD1C	ORPHA:567
HP:0001197	Abnormality of prenatal development or birth	2812	GP1BB	ORPHA:567
HP:0001197	Abnormality of prenatal development or birth	6239	RREB1	ORPHA:567
HP:0001197	Abnormality of prenatal development or birth	6899	TBX1	ORPHA:567
HP:0001197	Abnormality of prenatal development or birth	7290	HIRA	ORPHA:567
HP:0001197	Abnormality of prenatal development or birth	9632	SEC24C	ORPHA:567
HP:0001197	Abnormality of prenatal development or birth	7353	UFD1	ORPHA:567
HP:0001197	Abnormality of prenatal development or birth	421	ARVCF	ORPHA:567
HP:0001197	Abnormality of prenatal development or birth	8604	SLC25A12	OMIM:612949
HP:0001197	Abnormality of prenatal development or birth	7703	PCGF2	OMIM:618371
HP:0001197	Abnormality of prenatal development or birth	5277	PIGA	OMIM:300868
HP:0001197	Abnormality of prenatal development or birth	79796	ALG9	OMIM:263210
HP:0001197	Abnormality of prenatal development or birth	6007	RHD	OMIM:619462
HP:0001197	Abnormality of prenatal development or birth	4613	MYCN	OMIM:164280
HP:0001197	Abnormality of prenatal development or birth	10320	IKZF1	OMIM:616873
HP:0001197	Abnormality of prenatal development or birth	55210	ATAD3A	OMIM:618810
HP:0001197	Abnormality of prenatal development or birth	208	AKT2	OMIM:240900
HP:0001197	Abnormality of prenatal development or birth	124997	WDR81	OMIM:617967
HP:0001197	Abnormality of prenatal development or birth	55605	KIF21A	ORPHA:994
HP:0001197	Abnormality of prenatal development or birth	4927	NUP88	ORPHA:994
HP:0001197	Abnormality of prenatal development or birth	4927	NUP88	OMIM:618393
HP:0001197	Abnormality of prenatal development or birth	7846	TUBA1A	ORPHA:994
HP:0001197	Abnormality of prenatal development or birth	4654	MYOD1	ORPHA:994
HP:0001197	Abnormality of prenatal development or birth	4654	MYOD1	OMIM:618975
HP:0001197	Abnormality of prenatal development or birth	5913	RAPSN	ORPHA:994
HP:0001197	Abnormality of prenatal development or birth	6572	SLC18A3	ORPHA:994
HP:0001197	Abnormality of prenatal development or birth	6572	SLC18A3	ORPHA:98914
HP:0001197	Abnormality of prenatal development or birth	285489	DOK7	ORPHA:994
HP:0001197	Abnormality of prenatal development or birth	5015	OTX2	ORPHA:990
HP:0001197	Abnormality of prenatal development or birth	80347	COASY	OMIM:618266
HP:0001197	Abnormality of prenatal development or birth	6628	SNRPB	OMIM:117650
HP:0001197	Abnormality of prenatal development or birth	5977	DPF2	OMIM:618027
HP:0001197	Abnormality of prenatal development or birth	10526	IPO8	OMIM:619472
HP:0001197	Abnormality of prenatal development or birth	5167	ENPP1	ORPHA:51608
HP:0001197	Abnormality of prenatal development or birth	368	ABCC6	ORPHA:51608
HP:0001197	Abnormality of prenatal development or birth	1387	CREBBP	OMIM:180849
HP:0001197	Abnormality of prenatal development or birth	1387	CREBBP	ORPHA:353277
HP:0001197	Abnormality of prenatal development or birth	1861	TOR1A	OMIM:618947
HP:0001197	Abnormality of prenatal development or birth	8405	SPOP	OMIM:618829
HP:0001197	Abnormality of prenatal development or birth	9935	MAFB	ORPHA:2774
HP:0001197	Abnormality of prenatal development or birth	10653	SPINT2	OMIM:270420
HP:0001197	Abnormality of prenatal development or birth	1457	CSNK2A1	OMIM:617062
HP:0001197	Abnormality of prenatal development or birth	2077	ERF	OMIM:617180
HP:0001197	Abnormality of prenatal development or birth	8567	MADD	OMIM:619004
HP:0001197	Abnormality of prenatal development or birth	9508	ADAMTS3	OMIM:618154
HP:0001197	Abnormality of prenatal development or birth	10293	TRAIP	OMIM:616777
HP:0001197	Abnormality of prenatal development or birth	202018	TAPT1	OMIM:616897
HP:0001197	Abnormality of prenatal development or birth	60482	SLC5A7	ORPHA:98914
HP:0001197	Abnormality of prenatal development or birth	4649	MYO9A	ORPHA:98914
HP:0001197	Abnormality of prenatal development or birth	1305	COL13A1	ORPHA:98914
HP:0001197	Abnormality of prenatal development or birth	1103	CHAT	ORPHA:98914
HP:0001197	Abnormality of prenatal development or birth	6576	SLC25A1	ORPHA:98914
HP:0001197	Abnormality of prenatal development or birth	6843	VAMP1	ORPHA:98914
HP:0001197	Abnormality of prenatal development or birth	375790	AGRN	ORPHA:98914
HP:0001197	Abnormality of prenatal development or birth	127833	SYT2	ORPHA:98914
HP:0001197	Abnormality of prenatal development or birth	6616	SNAP25	ORPHA:98914
HP:0001197	Abnormality of prenatal development or birth	5500	PPP1CB	OMIM:617506
HP:0001197	Abnormality of prenatal development or birth	7291	TWIST1	OMIM:617746
HP:0001197	Abnormality of prenatal development or birth	60	ACTB	OMIM:620475
HP:0001197	Abnormality of prenatal development or birth	6329	SCN4A	OMIM:620351
HP:0001197	Abnormality of prenatal development or birth	6329	SCN4A	OMIM:620369
HP:0001197	Abnormality of prenatal development or birth	139285	AMER1	OMIM:300373
HP:0001197	Abnormality of prenatal development or birth	3090	HIC1	ORPHA:531
HP:0001197	Abnormality of prenatal development or birth	7531	YWHAE	ORPHA:531
HP:0001197	Abnormality of prenatal development or birth	342035	GLDN	OMIM:617194
HP:0001197	Abnormality of prenatal development or birth	10577	NPC2	OMIM:607625
HP:0001197	Abnormality of prenatal development or birth	200205	IBA57	OMIM:615330
HP:0001197	Abnormality of prenatal development or birth	9786	KIAA0586	OMIM:616546
HP:0001197	Abnormality of prenatal development or birth	51780	KDM3B	OMIM:618846
HP:0001197	Abnormality of prenatal development or birth	8481	OFD1	OMIM:300804
HP:0001197	Abnormality of prenatal development or birth	5297	PI4KA	ORPHA:436252
HP:0001197	Abnormality of prenatal development or birth	55005	RMND1	OMIM:614922
HP:0001197	Abnormality of prenatal development or birth	3295	HSD17B4	OMIM:261515
HP:0001197	Abnormality of prenatal development or birth	10225	CD96	ORPHA:1308
HP:0001197	Abnormality of prenatal development or birth	1302	COL11A2	ORPHA:1427
HP:0001197	Abnormality of prenatal development or birth	23299	BICD2	OMIM:618291
HP:0001197	Abnormality of prenatal development or birth	27031	NPHP3	ORPHA:3032
HP:0001197	Abnormality of prenatal development or birth	51626	DYNC2LI1	OMIM:617088
HP:0001197	Abnormality of prenatal development or birth	115286	SLC25A26	OMIM:616794
HP:0001197	Abnormality of prenatal development or birth	221692	PHACTR1	OMIM:618298
HP:0001197	Abnormality of prenatal development or birth	9373	PLAA	OMIM:617527
HP:0001197	Abnormality of prenatal development or birth	29969	MDFIC	OMIM:620014
HP:0001197	Abnormality of prenatal development or birth	7403	KDM6A	OMIM:147920
HP:0001197	Abnormality of prenatal development or birth	2737	GLI3	ORPHA:672
HP:0001197	Abnormality of prenatal development or birth	3651	PDX1	OMIM:260370
HP:0001197	Abnormality of prenatal development or birth	3376	IARS1	OMIM:617093
HP:0001197	Abnormality of prenatal development or birth	3376	IARS1	ORPHA:541423
HP:0001197	Abnormality of prenatal development or birth	29925	GMPPB	OMIM:615350
HP:0001197	Abnormality of prenatal development or birth	10466	COG5	ORPHA:263487
HP:0001197	Abnormality of prenatal development or birth	1832	DSP	ORPHA:158687
HP:0001197	Abnormality of prenatal development or birth	3728	JUP	ORPHA:158687
HP:0001197	Abnormality of prenatal development or birth	5393	EXOSC9	OMIM:618065
HP:0001197	Abnormality of prenatal development or birth	60529	ALX4	OMIM:613451
HP:0001197	Abnormality of prenatal development or birth	60529	ALX4	ORPHA:228390
HP:0001197	Abnormality of prenatal development or birth	7167	TPI1	OMIM:615512
HP:0001197	Abnormality of prenatal development or birth	25821	MTO1	OMIM:614702
HP:0001197	Abnormality of prenatal development or birth	1131	CHRM3	ORPHA:2970
HP:0001197	Abnormality of prenatal development or birth	1131	CHRM3	OMIM:100100
HP:0001197	Abnormality of prenatal development or birth	1636	ACE	OMIM:267430
HP:0001197	Abnormality of prenatal development or birth	183	AGT	OMIM:267430
HP:0001197	Abnormality of prenatal development or birth	185	AGTR1	OMIM:267430
HP:0001197	Abnormality of prenatal development or birth	5972	REN	OMIM:267430
HP:0001197	Abnormality of prenatal development or birth	3481	IGF2	ORPHA:231144
HP:0001197	Abnormality of prenatal development or birth	3481	IGF2	OMIM:616489
HP:0001197	Abnormality of prenatal development or birth	3481	IGF2	ORPHA:397590
HP:0001197	Abnormality of prenatal development or birth	283120	H19	ORPHA:231144
HP:0001197	Abnormality of prenatal development or birth	91754	NEK9	OMIM:617022
HP:0001197	Abnormality of prenatal development or birth	23395	LARS2	OMIM:617021
HP:0001197	Abnormality of prenatal development or birth	9871	SEC24D	OMIM:616294
HP:0001197	Abnormality of prenatal development or birth	3313	HSPA9	OMIM:616854
HP:0001197	Abnormality of prenatal development or birth	10229	COQ7	OMIM:616733
HP:0001197	Abnormality of prenatal development or birth	23426	GRIP1	OMIM:617667
HP:0001197	Abnormality of prenatal development or birth	341640	FREM2	OMIM:617666
HP:0001197	Abnormality of prenatal development or birth	30008	EFEMP2	OMIM:614437
HP:0001197	Abnormality of prenatal development or birth	55152	DALRD3	OMIM:618910
HP:0001197	Abnormality of prenatal development or birth	79158	GNPTAB	ORPHA:576
HP:0001197	Abnormality of prenatal development or birth	84987	COX14	OMIM:619053
HP:0001197	Abnormality of prenatal development or birth	84720	PIGO	ORPHA:247262
HP:0001197	Abnormality of prenatal development or birth	93210	PGAP3	ORPHA:247262
HP:0001197	Abnormality of prenatal development or birth	284098	PIGW	ORPHA:247262
HP:0001197	Abnormality of prenatal development or birth	27315	PGAP2	ORPHA:247262
HP:0001197	Abnormality of prenatal development or birth	55650	PIGV	ORPHA:247262
HP:0001197	Abnormality of prenatal development or birth	9487	PIGL	ORPHA:247262
HP:0001197	Abnormality of prenatal development or birth	9739	SETD1A	OMIM:619056
HP:0001197	Abnormality of prenatal development or birth	50619	DEF6	OMIM:619573
HP:0001197	Abnormality of prenatal development or birth	8260	NAA10	OMIM:300855
HP:0001197	Abnormality of prenatal development or birth	708	C1QBP	OMIM:617713
HP:0001197	Abnormality of prenatal development or birth	284086	NEK8	OMIM:615415
HP:0001197	Abnormality of prenatal development or birth	672	BRCA1	ORPHA:84
HP:0001197	Abnormality of prenatal development or birth	10459	MAD2L2	ORPHA:84
HP:0001197	Abnormality of prenatal development or birth	7516	XRCC2	ORPHA:84
HP:0001197	Abnormality of prenatal development or birth	29089	UBE2T	ORPHA:84
HP:0001197	Abnormality of prenatal development or birth	675	BRCA2	ORPHA:84
HP:0001197	Abnormality of prenatal development or birth	55120	FANCL	ORPHA:84
HP:0001197	Abnormality of prenatal development or birth	2177	FANCD2	ORPHA:84
HP:0001197	Abnormality of prenatal development or birth	2175	FANCA	ORPHA:84
HP:0001197	Abnormality of prenatal development or birth	2176	FANCC	ORPHA:84
HP:0001197	Abnormality of prenatal development or birth	2178	FANCE	ORPHA:84
HP:0001197	Abnormality of prenatal development or birth	2189	FANCG	ORPHA:84
HP:0001197	Abnormality of prenatal development or birth	5888	RAD51	ORPHA:84
HP:0001197	Abnormality of prenatal development or birth	5889	RAD51C	ORPHA:84
HP:0001197	Abnormality of prenatal development or birth	55159	RFWD3	ORPHA:84
HP:0001197	Abnormality of prenatal development or birth	83990	BRIP1	ORPHA:84
HP:0001197	Abnormality of prenatal development or birth	57697	FANCM	ORPHA:84
HP:0001197	Abnormality of prenatal development or birth	79728	PALB2	ORPHA:84
HP:0001197	Abnormality of prenatal development or birth	84464	SLX4	ORPHA:84
HP:0001197	Abnormality of prenatal development or birth	2072	ERCC4	ORPHA:84
HP:0001197	Abnormality of prenatal development or birth	55215	FANCI	ORPHA:84
HP:0001197	Abnormality of prenatal development or birth	3913	LAMB2	OMIM:609049
HP:0001197	Abnormality of prenatal development or birth	22827	PUF60	ORPHA:508488
HP:0001197	Abnormality of prenatal development or birth	84314	TMEM107	ORPHA:564
HP:0001197	Abnormality of prenatal development or birth	26123	TCTN3	ORPHA:564
HP:0001197	Abnormality of prenatal development or birth	26123	TCTN3	ORPHA:2753
HP:0001197	Abnormality of prenatal development or birth	79867	TCTN2	ORPHA:564
HP:0001197	Abnormality of prenatal development or birth	80776	B9D2	ORPHA:564
HP:0001197	Abnormality of prenatal development or birth	79600	TCTN1	ORPHA:564
HP:0001197	Abnormality of prenatal development or birth	57096	RPGRIP1	ORPHA:564
HP:0001197	Abnormality of prenatal development or birth	79848	CSPP1	ORPHA:564
HP:0001197	Abnormality of prenatal development or birth	80184	CEP290	ORPHA:564
HP:0001197	Abnormality of prenatal development or birth	51259	TMEM216	ORPHA:564
HP:0001197	Abnormality of prenatal development or birth	57545	CC2D2A	ORPHA:564
HP:0001197	Abnormality of prenatal development or birth	79583	TMEM231	ORPHA:564
HP:0001197	Abnormality of prenatal development or birth	79583	TMEM231	OMIM:615397
HP:0001197	Abnormality of prenatal development or birth	91147	TMEM67	ORPHA:564
HP:0001197	Abnormality of prenatal development or birth	79770	TXNDC15	ORPHA:564
HP:0001197	Abnormality of prenatal development or birth	79770	TXNDC15	OMIM:619879
HP:0001197	Abnormality of prenatal development or birth	27077	B9D1	ORPHA:564
HP:0001197	Abnormality of prenatal development or birth	23322	RPGRIP1L	ORPHA:564
HP:0001197	Abnormality of prenatal development or birth	54903	MKS1	ORPHA:564
HP:0001197	Abnormality of prenatal development or birth	54903	MKS1	OMIM:249000
HP:0001197	Abnormality of prenatal development or birth	65062	TMEM237	ORPHA:564
HP:0001197	Abnormality of prenatal development or birth	6045	RNF2	OMIM:619460
HP:0001197	Abnormality of prenatal development or birth	10087	CERT1	OMIM:616351
HP:0001197	Abnormality of prenatal development or birth	26276	VPS33B	OMIM:208085
HP:0001197	Abnormality of prenatal development or birth	1656	DDX6	OMIM:618653
HP:0001197	Abnormality of prenatal development or birth	3977	LIFR	OMIM:601559
HP:0001197	Abnormality of prenatal development or birth	3977	LIFR	ORPHA:3206
HP:0001197	Abnormality of prenatal development or birth	1822	ATN1	OMIM:618494
HP:0001197	Abnormality of prenatal development or birth	4700	NDUFA6	OMIM:618253
HP:0001197	Abnormality of prenatal development or birth	84300	UQCC2	OMIM:615824
HP:0001197	Abnormality of prenatal development or birth	2783	GNB2	OMIM:619503
HP:0001197	Abnormality of prenatal development or birth	29980	DONSON	OMIM:617604
HP:0001197	Abnormality of prenatal development or birth	29980	DONSON	OMIM:251230
HP:0001197	Abnormality of prenatal development or birth	27130	INVS	OMIM:602088
HP:0001197	Abnormality of prenatal development or birth	760	CA2	ORPHA:2785
HP:0001197	Abnormality of prenatal development or birth	8241	RBM10	OMIM:311900
HP:0001197	Abnormality of prenatal development or birth	9653	HS2ST1	OMIM:619194
HP:0001197	Abnormality of prenatal development or birth	5447	POR	OMIM:201750
HP:0001197	Abnormality of prenatal development or birth	3975	LHX1	ORPHA:261265
HP:0001197	Abnormality of prenatal development or birth	6928	HNF1B	ORPHA:261265
HP:0001197	Abnormality of prenatal development or birth	5314	PKHD1	OMIM:263200
HP:0001197	Abnormality of prenatal development or birth	5314	PKHD1	ORPHA:731
HP:0001197	Abnormality of prenatal development or birth	29927	SEC61A1	OMIM:617056
HP:0001197	Abnormality of prenatal development or birth	29957	SLC25A24	OMIM:612289
HP:0001197	Abnormality of prenatal development or birth	2627	GATA6	ORPHA:2255
HP:0001197	Abnormality of prenatal development or birth	8087	FXR1	OMIM:618822
HP:0001197	Abnormality of prenatal development or birth	8087	FXR1	OMIM:618823
HP:0001197	Abnormality of prenatal development or birth	54796	BNC2	ORPHA:93110
HP:0001197	Abnormality of prenatal development or birth	8516	ITGA8	ORPHA:1848
HP:0001197	Abnormality of prenatal development or birth	8516	ITGA8	OMIM:191830
HP:0001197	Abnormality of prenatal development or birth	26281	FGF20	ORPHA:1848
HP:0001197	Abnormality of prenatal development or birth	2674	GFRA1	ORPHA:1848
HP:0001197	Abnormality of prenatal development or birth	7484	WNT9B	ORPHA:1848
HP:0001197	Abnormality of prenatal development or birth	80000	GREB1L	ORPHA:1848
HP:0001197	Abnormality of prenatal development or birth	10056	FARSB	OMIM:613658
HP:0001197	Abnormality of prenatal development or birth	55165	CEP55	OMIM:236500
HP:0001197	Abnormality of prenatal development or birth	51360	MBTPS2	OMIM:308205
HP:0001197	Abnormality of prenatal development or birth	10398	MYL9	OMIM:619365
HP:0001197	Abnormality of prenatal development or birth	1028	CDKN1C	ORPHA:397590
HP:0001197	Abnormality of prenatal development or birth	5324	PLAG1	ORPHA:397590
HP:0001197	Abnormality of prenatal development or birth	8091	HMGA2	ORPHA:397590
HP:0001197	Abnormality of prenatal development or birth	9928	KIF14	OMIM:616258
HP:0001197	Abnormality of prenatal development or birth	64135	IFIH1	OMIM:615846
HP:0001197	Abnormality of prenatal development or birth	118924	FRA10AC1	OMIM:620113
HP:0001197	Abnormality of prenatal development or birth	199221	DZIP1L	ORPHA:731
HP:0001197	Abnormality of prenatal development or birth	1376	CPT2	OMIM:608836
HP:0001197	Abnormality of prenatal development or birth	7355	SLC35A2	OMIM:300896
HP:0001197	Abnormality of prenatal development or birth	8218	CLTCL1	ORPHA:453510
HP:0001197	Abnormality of prenatal development or birth	2193	FARSA	OMIM:619013
HP:0001197	Abnormality of prenatal development or birth	119559	SFXN4	OMIM:615578
HP:0001197	Abnormality of prenatal development or birth	84570	COL25A1	ORPHA:1143
HP:0001197	Abnormality of prenatal development or birth	57222	ERGIC1	ORPHA:1143
HP:0001197	Abnormality of prenatal development or birth	54361	WNT4	OMIM:611812
HP:0001197	Abnormality of prenatal development or birth	54361	WNT4	ORPHA:139466
HP:0001197	Abnormality of prenatal development or birth	10516	FBLN5	OMIM:219100
HP:0001197	Abnormality of prenatal development or birth	529	ATP6V1E1	OMIM:617402
HP:0001197	Abnormality of prenatal development or birth	7319	UBE2A	ORPHA:163956
HP:0001197	Abnormality of prenatal development or birth	27145	FILIP1	OMIM:620775
HP:0001197	Abnormality of prenatal development or birth	4713	NDUFB7	OMIM:620135
HP:0001197	Abnormality of prenatal development or birth	6888	TALDO1	OMIM:606003
HP:0001197	Abnormality of prenatal development or birth	9900	SV2A	OMIM:620772
HP:0001197	Abnormality of prenatal development or birth	6005	RHAG	ORPHA:71275
HP:0001197	Abnormality of prenatal development or birth	6006	RHCE	ORPHA:71275
HP:0001197	Abnormality of prenatal development or birth	168667	BMPER	OMIM:608022
HP:0001197	Abnormality of prenatal development or birth	4693	NDP	ORPHA:90050
HP:0001197	Abnormality of prenatal development or birth	4041	LRP5	ORPHA:90050
HP:0001197	Abnormality of prenatal development or birth	8322	FZD4	ORPHA:90050
HP:0001197	Abnormality of prenatal development or birth	5076	PAX2	ORPHA:97362
HP:0001197	Abnormality of prenatal development or birth	5087	PBX1	ORPHA:97362
HP:0001197	Abnormality of prenatal development or birth	6134	RPL10	OMIM:300998
HP:0001197	Abnormality of prenatal development or birth	26235	FBXL4	OMIM:615471
HP:0001197	Abnormality of prenatal development or birth	10262	SF3B4	OMIM:154400
HP:0001197	Abnormality of prenatal development or birth	23019	CNOT1	OMIM:619033
HP:0001197	Abnormality of prenatal development or birth	56203	LMOD3	OMIM:616165
HP:0001197	Abnormality of prenatal development or birth	56203	LMOD3	ORPHA:171430
HP:0001197	Abnormality of prenatal development or birth	54973	INTS11	OMIM:620428
HP:0001197	Abnormality of prenatal development or birth	673	BRAF	OMIM:115150
HP:0001197	Abnormality of prenatal development or birth	673	BRAF	ORPHA:1340
HP:0001197	Abnormality of prenatal development or birth	55627	SMPD4	OMIM:618622
HP:0001197	Abnormality of prenatal development or birth	4625	MYH7	ORPHA:1880
HP:0001197	Abnormality of prenatal development or birth	2720	GLB1	OMIM:230600
HP:0001197	Abnormality of prenatal development or birth	253738	EBF3	ORPHA:96148
HP:0001197	Abnormality of prenatal development or birth	5745	PTH1R	OMIM:215045
HP:0001197	Abnormality of prenatal development or birth	5745	PTH1R	ORPHA:50945
HP:0001197	Abnormality of prenatal development or birth	2629	GBA1	OMIM:608013
HP:0001197	Abnormality of prenatal development or birth	10999	SLC27A4	OMIM:608649
HP:0001197	Abnormality of prenatal development or birth	10999	SLC27A4	ORPHA:88621
HP:0001197	Abnormality of prenatal development or birth	58	ACTA1	ORPHA:171433
HP:0001197	Abnormality of prenatal development or birth	58	ACTA1	ORPHA:171430
HP:0001197	Abnormality of prenatal development or birth	4703	NEB	ORPHA:171433
HP:0001197	Abnormality of prenatal development or birth	4703	NEB	ORPHA:171430
HP:0001197	Abnormality of prenatal development or birth	10324	KLHL41	ORPHA:171433
HP:0001197	Abnormality of prenatal development or birth	10324	KLHL41	ORPHA:171430
HP:0001197	Abnormality of prenatal development or birth	7170	TPM3	ORPHA:171433
HP:0001197	Abnormality of prenatal development or birth	613	BCR	ORPHA:261330
HP:0001197	Abnormality of prenatal development or birth	1399	CRKL	ORPHA:261330
HP:0001197	Abnormality of prenatal development or birth	5594	MAPK1	ORPHA:261330
HP:0001197	Abnormality of prenatal development or birth	131377	KLHL40	ORPHA:171430
HP:0001197	Abnormality of prenatal development or birth	3508	IGHMBP2	OMIM:604320
HP:0001197	Abnormality of prenatal development or birth	284403	WDR62	OMIM:604317
HP:0001197	Abnormality of prenatal development or birth	2260	FGFR1	ORPHA:280200
HP:0001197	Abnormality of prenatal development or birth	28514	DLL1	ORPHA:280200
HP:0001197	Abnormality of prenatal development or birth	2253	FGF8	ORPHA:280200
HP:0001197	Abnormality of prenatal development or birth	6496	SIX3	ORPHA:280200
HP:0001197	Abnormality of prenatal development or birth	7050	TGIF1	ORPHA:280200
HP:0001197	Abnormality of prenatal development or birth	4838	NODAL	ORPHA:280200
HP:0001197	Abnormality of prenatal development or birth	6469	SHH	ORPHA:280200
HP:0001197	Abnormality of prenatal development or birth	51684	SUFU	ORPHA:280200
HP:0001197	Abnormality of prenatal development or birth	7546	ZIC2	ORPHA:280200
HP:0001197	Abnormality of prenatal development or birth	2619	GAS1	ORPHA:280200
HP:0001197	Abnormality of prenatal development or birth	84976	DISP1	ORPHA:280200
HP:0001197	Abnormality of prenatal development or birth	2736	GLI2	ORPHA:280200
HP:0001197	Abnormality of prenatal development or birth	8928	FOXH1	ORPHA:280200
HP:0001197	Abnormality of prenatal development or birth	6997	CRIPTO	ORPHA:280200
HP:0001197	Abnormality of prenatal development or birth	5727	PTCH1	ORPHA:280200
HP:0001197	Abnormality of prenatal development or birth	50937	CDON	ORPHA:280200
HP:0001197	Abnormality of prenatal development or birth	1725	DHPS	OMIM:618480
HP:0001197	Abnormality of prenatal development or birth	10916	MAGED2	OMIM:300971
HP:0001197	Abnormality of prenatal development or birth	54539	NDUFB11	OMIM:301021
HP:0001197	Abnormality of prenatal development or birth	4709	NDUFB3	OMIM:618246
HP:0001197	Abnormality of prenatal development or birth	1272	CNTN1	OMIM:612540
HP:0001197	Abnormality of prenatal development or birth	10352	WARS2	OMIM:619738
HP:0001197	Abnormality of prenatal development or birth	9968	MED12	ORPHA:93932
HP:0001197	Abnormality of prenatal development or birth	6773	STAT2	OMIM:618886
HP:0001197	Abnormality of prenatal development or birth	6499	SKIC2	OMIM:614602
HP:0001197	Abnormality of prenatal development or birth	51008	ASCC1	OMIM:616867
HP:0001197	Abnormality of prenatal development or birth	5604	MAP2K1	ORPHA:1340
HP:0001197	Abnormality of prenatal development or birth	5605	MAP2K2	ORPHA:1340
HP:0001197	Abnormality of prenatal development or birth	3845	KRAS	ORPHA:1340
HP:0001197	Abnormality of prenatal development or birth	1277	COL1A1	OMIM:166210
HP:0001197	Abnormality of prenatal development or birth	1277	COL1A1	ORPHA:287
HP:0001197	Abnormality of prenatal development or birth	1278	COL1A2	OMIM:166210
HP:0001197	Abnormality of prenatal development or birth	9325	TRIP4	OMIM:616866
HP:0001197	Abnormality of prenatal development or birth	2317	FLNB	OMIM:108720
HP:0001197	Abnormality of prenatal development or birth	1289	COL5A1	ORPHA:287
HP:0001197	Abnormality of prenatal development or birth	1290	COL5A2	ORPHA:287
HP:0001197	Abnormality of prenatal development or birth	1717	DHCR7	OMIM:270400
HP:0001197	Abnormality of prenatal development or birth	6557	SLC12A1	OMIM:601678
HP:0001197	Abnormality of prenatal development or birth	1281	COL3A1	ORPHA:286
HP:0001197	Abnormality of prenatal development or birth	7809	BSND	OMIM:602522
HP:0001197	Abnormality of prenatal development or birth	7809	BSND	ORPHA:89938
HP:0001197	Abnormality of prenatal development or birth	1760	DMPK	ORPHA:589821
HP:0001197	Abnormality of prenatal development or birth	9509	ADAMTS2	OMIM:225410
HP:0001197	Abnormality of prenatal development or birth	54968	TMEM70	OMIM:614052
HP:0001197	Abnormality of prenatal development or birth	3758	KCNJ1	OMIM:241200
HP:0001197	Abnormality of prenatal development or birth	5244	ABCB4	OMIM:614972
HP:0001197	Abnormality of prenatal development or birth	5244	ABCB4	ORPHA:69665
HP:0001197	Abnormality of prenatal development or birth	7253	TSHR	OMIM:609152
HP:0001197	Abnormality of prenatal development or birth	114548	NLRP3	ORPHA:1451
HP:0001197	Abnormality of prenatal development or birth	3265	HRAS	OMIM:218040
HP:0001197	Abnormality of prenatal development or birth	2200	FBN1	OMIM:616914
HP:0001197	Abnormality of prenatal development or birth	2313	FLI1	ORPHA:2308
HP:0001197	Abnormality of prenatal development or birth	2584	GALK1	ORPHA:79237
HP:0001197	Abnormality of prenatal development or birth	4534	MTM1	ORPHA:596
HP:0001197	Abnormality of prenatal development or birth	4534	MTM1	OMIM:310400
HP:0001197	Abnormality of prenatal development or birth	23476	BRD4	ORPHA:199
HP:0001197	Abnormality of prenatal development or birth	9126	SMC3	ORPHA:199
HP:0001197	Abnormality of prenatal development or birth	8243	SMC1A	ORPHA:199
HP:0001197	Abnormality of prenatal development or birth	6878	TAF6	ORPHA:199
HP:0001197	Abnormality of prenatal development or birth	25836	NIPBL	ORPHA:199
HP:0001197	Abnormality of prenatal development or birth	55869	HDAC8	ORPHA:199
HP:0001197	Abnormality of prenatal development or birth	5885	RAD21	ORPHA:199
HP:0001197	Abnormality of prenatal development or birth	26154	ABCA12	OMIM:242500
HP:0001197	Abnormality of prenatal development or birth	1188	CLCNKB	ORPHA:89938
HP:0001197	Abnormality of prenatal development or birth	1188	CLCNKB	OMIM:613090
HP:0001197	Abnormality of prenatal development or birth	1187	CLCNKA	ORPHA:89938
HP:0001197	Abnormality of prenatal development or birth	1187	CLCNKA	OMIM:613090
HP:0001197	Abnormality of prenatal development or birth	1186	CLCN7	OMIM:618541
HP:0001197	Abnormality of prenatal development or birth	57003	CCDC47	OMIM:618268
HP:0001197	Abnormality of prenatal development or birth	57187	THOC2	OMIM:300957
HP:0001197	Abnormality of prenatal development or birth	4593	MUSK	OMIM:208150
HP:0001197	Abnormality of prenatal development or birth	9255	AIMP1	OMIM:260600
HP:0001197	Abnormality of prenatal development or birth	3043	HBB	ORPHA:2133
HP:0001197	Abnormality of prenatal development or birth	157570	ESCO2	ORPHA:3103
HP:0001197	Abnormality of prenatal development or birth	388015	RTL1	ORPHA:96184
HP:0001197	Abnormality of prenatal development or birth	388015	RTL1	ORPHA:96334
HP:0001197	Abnormality of prenatal development or birth	8788	DLK1	ORPHA:96184
HP:0001197	Abnormality of prenatal development or birth	8788	DLK1	ORPHA:96334
HP:0001197	Abnormality of prenatal development or birth	55384	MEG3	ORPHA:96184
HP:0001197	Abnormality of prenatal development or birth	55384	MEG3	ORPHA:96334
HP:0001197	Abnormality of prenatal development or birth	5054	SERPINE1	ORPHA:465
HP:0001197	Abnormality of prenatal development or birth	213	ALB	ORPHA:86816
HP:0001197	Abnormality of prenatal development or birth	374879	ZNF699	OMIM:619488
HP:0001197	Abnormality of prenatal development or birth	9276	COPB2	OMIM:619884
HP:0001197	Abnormality of prenatal development or birth	253959	RALGAPA1	OMIM:618797
HP:0001197	Abnormality of prenatal development or birth	2232	FDXR	ORPHA:543470
HP:0001197	Abnormality of prenatal development or birth	100151683	RNU4ATAC	OMIM:616651
HP:0001197	Abnormality of prenatal development or birth	100151683	RNU4ATAC	ORPHA:2636
HP:0001197	Abnormality of prenatal development or birth	55640	FLVCR2	OMIM:225790
HP:0001197	Abnormality of prenatal development or birth	5205	ATP8B1	ORPHA:69665
HP:0001197	Abnormality of prenatal development or birth	5205	ATP8B1	OMIM:147480
HP:0001197	Abnormality of prenatal development or birth	8647	ABCB11	ORPHA:69665
HP:0001197	Abnormality of prenatal development or birth	9971	NR1H4	ORPHA:69665
HP:0001197	Abnormality of prenatal development or birth	55278	QRSL1	OMIM:618835
HP:0001197	Abnormality of prenatal development or birth	50485	SMARCAL1	ORPHA:1830
HP:0001197	Abnormality of prenatal development or birth	92335	STRADA	OMIM:611087
HP:0001197	Abnormality of prenatal development or birth	5188	GATB	OMIM:618838
HP:0001197	Abnormality of prenatal development or birth	1811	SLC26A3	OMIM:214700
HP:0001197	Abnormality of prenatal development or birth	2683	B4GALT1	ORPHA:79332
HP:0001197	Abnormality of prenatal development or birth	283459	GATC	OMIM:618839
HP:0001197	Abnormality of prenatal development or birth	3516	RBPJ	ORPHA:974
HP:0001197	Abnormality of prenatal development or birth	4851	NOTCH1	ORPHA:974
HP:0001197	Abnormality of prenatal development or birth	57514	ARHGAP31	ORPHA:974
HP:0001197	Abnormality of prenatal development or birth	57572	DOCK6	ORPHA:974
HP:0001197	Abnormality of prenatal development or birth	285203	EOGT	ORPHA:974
HP:0001197	Abnormality of prenatal development or birth	54567	DLL4	ORPHA:974
HP:0001197	Abnormality of prenatal development or birth	1301	COL11A1	ORPHA:440354
HP:0001197	Abnormality of prenatal development or birth	6440	SFTPC	ORPHA:685082
HP:0001197	Abnormality of prenatal development or birth	21	ABCA3	ORPHA:685082
HP:0001197	Abnormality of prenatal development or birth	6439	SFTPB	ORPHA:685082
HP:0001197	Abnormality of prenatal development or birth	197258	FCSK	OMIM:618324
HP:0001197	Abnormality of prenatal development or birth	84231	TRAF7	OMIM:618164
HP:0001197	Abnormality of prenatal development or birth	26503	SLC17A5	OMIM:269920
HP:0001197	Abnormality of prenatal development or birth	8565	YARS1	OMIM:619418
HP:0001197	Abnormality of prenatal development or birth	4000	LMNA	ORPHA:1662
HP:0001197	Abnormality of prenatal development or birth	10269	ZMPSTE24	ORPHA:1662
HP:0001197	Abnormality of prenatal development or birth	10269	ZMPSTE24	OMIM:275210
HP:0001197	Abnormality of prenatal development or birth	51294	PCDH12	OMIM:251280
HP:0001197	Abnormality of prenatal development or birth	79087	ALG12	ORPHA:79324
HP:0001197	Abnormality of prenatal development or birth	6223	RPS19	OMIM:105650
HP:0001197	Abnormality of prenatal development or birth	79053	ALG8	ORPHA:79325
HP:0001197	Abnormality of prenatal development or birth	3239	HOXD13	ORPHA:887
HP:0001197	Abnormality of prenatal development or birth	286204	CRB2	OMIM:219730
HP:0001197	Abnormality of prenatal development or birth	9896	FIG4	OMIM:216340
HP:0001197	Abnormality of prenatal development or birth	6567	SLC16A2	ORPHA:59
HP:0001197	Abnormality of prenatal development or birth	23040	MYT1L	ORPHA:647799
HP:0001197	Abnormality of prenatal development or birth	7543	ZFX	OMIM:301118
HP:0001197	Abnormality of prenatal development or birth	219844	HYLS1	ORPHA:2189
HP:0001197	Abnormality of prenatal development or birth	374654	KIF7	ORPHA:2189
HP:0001197	Abnormality of prenatal development or birth	826	CAPNS1	OMIM:620777
HP:0001197	Abnormality of prenatal development or birth	7407	VARS1	OMIM:617802
HP:0001197	Abnormality of prenatal development or birth	79693	YRDC	ORPHA:2065
HP:0001197	Abnormality of prenatal development or birth	51002	TPRKB	ORPHA:2065
HP:0001197	Abnormality of prenatal development or birth	84942	WDR73	ORPHA:2065
HP:0001197	Abnormality of prenatal development or birth	55644	OSGEP	ORPHA:2065
HP:0001197	Abnormality of prenatal development or birth	57122	NUP107	ORPHA:2065
HP:0001197	Abnormality of prenatal development or birth	10785	WDR4	ORPHA:2065
HP:0001197	Abnormality of prenatal development or birth	55746	NUP133	ORPHA:2065
HP:0001197	Abnormality of prenatal development or birth	84520	GON7	ORPHA:2065
HP:0001197	Abnormality of prenatal development or birth	112858	TP53RK	ORPHA:2065
HP:0001197	Abnormality of prenatal development or birth	8270	LAGE3	ORPHA:2065
HP:0001197	Abnormality of prenatal development or birth	55670	PEX26	ORPHA:912
HP:0001197	Abnormality of prenatal development or birth	5824	PEX19	ORPHA:912
HP:0001197	Abnormality of prenatal development or birth	5828	PEX2	ORPHA:912
HP:0001197	Abnormality of prenatal development or birth	8504	PEX3	ORPHA:912
HP:0001197	Abnormality of prenatal development or birth	8799	PEX11B	ORPHA:912
HP:0001197	Abnormality of prenatal development or birth	9409	PEX16	ORPHA:912
HP:0001197	Abnormality of prenatal development or birth	5190	PEX6	ORPHA:912
HP:0001197	Abnormality of prenatal development or birth	5830	PEX5	ORPHA:912
HP:0001197	Abnormality of prenatal development or birth	5189	PEX1	ORPHA:912
HP:0001197	Abnormality of prenatal development or birth	5193	PEX12	ORPHA:912
HP:0001197	Abnormality of prenatal development or birth	5194	PEX13	ORPHA:912
HP:0001197	Abnormality of prenatal development or birth	5195	PEX14	ORPHA:912
HP:0001197	Abnormality of prenatal development or birth	5192	PEX10	ORPHA:912
HP:0001197	Abnormality of prenatal development or birth	54938	SARS2	OMIM:613845
HP:0001197	Abnormality of prenatal development or birth	64858	DCLRE1B	OMIM:620133
HP:0001197	Abnormality of prenatal development or birth	4067	LYN	OMIM:620376
HP:0001197	Abnormality of prenatal development or birth	4054	LTBP3	OMIM:617809
HP:0001197	Abnormality of prenatal development or birth	51422	PRKAG2	OMIM:261740
HP:0001197	Abnormality of prenatal development or birth	55699	IARS2	OMIM:616007
HP:0001197	Abnormality of prenatal development or birth	8425	LTBP4	OMIM:613177
HP:0001197	Abnormality of prenatal development or birth	6023	RMRP	OMIM:250250
HP:0001197	Abnormality of prenatal development or birth	6651	SON	OMIM:617140
HP:0001197	Abnormality of prenatal development or birth	4976	OPA1	OMIM:616896
HP:0001197	Abnormality of prenatal development or birth	23729	SHPK	ORPHA:440713
HP:0001197	Abnormality of prenatal development or birth	95	ACY1	OMIM:609924
HP:0001197	Abnormality of prenatal development or birth	3190	HNRNPK	OMIM:616580
HP:0001197	Abnormality of prenatal development or birth	55870	ASH1L	OMIM:617796
HP:0001197	Abnormality of prenatal development or birth	4998	ORC1	OMIM:224690
HP:0001197	Abnormality of prenatal development or birth	9469	CHST3	OMIM:143095
HP:0001197	Abnormality of prenatal development or birth	10491	CRTAP	OMIM:610682
HP:0001197	Abnormality of prenatal development or birth	25930	PTPN23	OMIM:618890
HP:0001197	Abnormality of prenatal development or birth	667	DST	OMIM:614653
HP:0001197	Abnormality of prenatal development or birth	3939	LDHA	ORPHA:284426
HP:0001197	Abnormality of prenatal development or birth	221496	LEMD2	OMIM:619322
HP:0001197	Abnormality of prenatal development or birth	5351	PLOD1	OMIM:225400
HP:0001197	Abnormality of prenatal development or birth	64121	RRAGC	OMIM:620609
HP:0001197	Abnormality of prenatal development or birth	23545	ATP6V0A2	ORPHA:2834
HP:0001197	Abnormality of prenatal development or birth	23545	ATP6V0A2	OMIM:278250
HP:0001197	Abnormality of prenatal development or birth	89970	RSPRY1	OMIM:616723
HP:0001197	Abnormality of prenatal development or birth	871	SERPINH1	OMIM:610504
HP:0001197	Abnormality of prenatal development or birth	5337	PLD1	OMIM:212093
HP:0001197	Abnormality of prenatal development or birth	355	FAS	ORPHA:3261
HP:0001197	Abnormality of prenatal development or birth	356	FASLG	ORPHA:3261
HP:0001197	Abnormality of prenatal development or birth	843	CASP10	ORPHA:3261
HP:0001197	Abnormality of prenatal development or birth	10112	KIF20A	OMIM:619433
HP:0001197	Abnormality of prenatal development or birth	4750	NEK1	OMIM:263520
HP:0001197	Abnormality of prenatal development or birth	147372	CCBE1	ORPHA:2136
HP:0001197	Abnormality of prenatal development or birth	79633	FAT4	ORPHA:2136
HP:0001197	Abnormality of prenatal development or birth	4758	NEU1	OMIM:256550
HP:0001197	Abnormality of prenatal development or birth	2990	GUSB	ORPHA:584
HP:0001197	Abnormality of prenatal development or birth	2990	GUSB	OMIM:253220
HP:0001197	Abnormality of prenatal development or birth	4247	MGAT2	ORPHA:79329
HP:0001197	Abnormality of prenatal development or birth	57560	IFT80	ORPHA:93271
HP:0001197	Abnormality of prenatal development or birth	79659	DYNC2H1	ORPHA:93271
HP:0001197	Abnormality of prenatal development or birth	54345	SOX18	ORPHA:69735
HP:0001197	Abnormality of prenatal development or birth	2122	MECOM	OMIM:616738
HP:0001197	Abnormality of prenatal development or birth	427	ASAH1	ORPHA:333
HP:0001197	Abnormality of prenatal development or birth	10661	KLF1	OMIM:613673
HP:0001197	Abnormality of prenatal development or birth	7476	WNT7A	ORPHA:2879
HP:0001197	Abnormality of prenatal development or birth	25974	MMACHC	ORPHA:79282
HP:0001197	Abnormality of prenatal development or birth	55109	AGGF1	ORPHA:90308
HP:0001197	Abnormality of prenatal development or birth	5290	PIK3CA	ORPHA:90308
HP:0001197	Abnormality of prenatal development or birth	5313	PKLR	ORPHA:766
HP:0001197	Abnormality of prenatal development or birth	2035	EPB41	ORPHA:288
HP:0001197	Abnormality of prenatal development or birth	2995	GYPC	ORPHA:288
HP:0001197	Abnormality of prenatal development or birth	6710	SPTB	ORPHA:288
HP:0001197	Abnormality of prenatal development or birth	6708	SPTA1	ORPHA:288
HP:0001197	Abnormality of prenatal development or birth	191	AHCY	ORPHA:88618
HP:0001197	Abnormality of prenatal development or birth	4905	NSF	OMIM:619340
HP:0001197	Abnormality of prenatal development or birth	146059	CDAN1	OMIM:224120
HP:0001197	Abnormality of prenatal development or birth	4591	TRIM37	OMIM:253250
HP:0001197	Abnormality of prenatal development or birth	90952	ESAM	OMIM:620371
HP:0001197	Abnormality of prenatal development or birth	55388	MCM10	OMIM:619313
HP:0001197	Abnormality of prenatal development or birth	5530	PPP3CA	OMIM:618265
HP:0001197	Abnormality of prenatal development or birth	54675	CRLS1	OMIM:620167
HP:0001197	Abnormality of prenatal development or birth	6138	RPL15	ORPHA:124
HP:0001197	Abnormality of prenatal development or birth	6224	RPS20	ORPHA:124
HP:0001197	Abnormality of prenatal development or birth	6165	RPL35A	ORPHA:124
HP:0001197	Abnormality of prenatal development or birth	6132	RPL8	ORPHA:124
HP:0001197	Abnormality of prenatal development or birth	6232	RPS27	ORPHA:124
HP:0001197	Abnormality of prenatal development or birth	55027	HEATR3	ORPHA:124
HP:0001197	Abnormality of prenatal development or birth	6160	RPL31	ORPHA:124
HP:0001197	Abnormality of prenatal development or birth	6201	RPS7	ORPHA:124
HP:0001197	Abnormality of prenatal development or birth	6155	RPL27	ORPHA:124
HP:0001197	Abnormality of prenatal development or birth	6234	RPS28	ORPHA:124
HP:0001197	Abnormality of prenatal development or birth	6229	RPS24	ORPHA:124
HP:0001197	Abnormality of prenatal development or birth	6125	RPL5	ORPHA:124
HP:0001197	Abnormality of prenatal development or birth	6204	RPS10	ORPHA:124
HP:0001197	Abnormality of prenatal development or birth	6133	RPL9	ORPHA:124
HP:0001197	Abnormality of prenatal development or birth	6231	RPS26	ORPHA:124
HP:0001197	Abnormality of prenatal development or birth	11224	RPL35	ORPHA:124
HP:0001197	Abnormality of prenatal development or birth	6218	RPS17	ORPHA:124
HP:0001197	Abnormality of prenatal development or birth	6154	RPL26	ORPHA:124
HP:0001197	Abnormality of prenatal development or birth	6210	RPS15A	ORPHA:124
HP:0001197	Abnormality of prenatal development or birth	90121	TSR2	ORPHA:124
HP:0001197	Abnormality of prenatal development or birth	6141	RPL18	ORPHA:124
HP:0001197	Abnormality of prenatal development or birth	6235	RPS29	ORPHA:124
HP:0001197	Abnormality of prenatal development or birth	51816	ADA2	ORPHA:124
HP:0001197	Abnormality of prenatal development or birth	57538	ALPK3	OMIM:618052
HP:0001197	Abnormality of prenatal development or birth	2324	FLT4	OMIM:153100
HP:0001197	Abnormality of prenatal development or birth	79587	CARS2	ORPHA:477774
HP:0001197	Abnormality of prenatal development or birth	2050	EPHB4	OMIM:617300
HP:0001197	Abnormality of prenatal development or birth	2050	EPHB4	ORPHA:137667
HP:0001197	Abnormality of prenatal development or birth	2303	FOXC2	OMIM:153400
HP:0001197	Abnormality of prenatal development or birth	5921	RASA1	ORPHA:137667
HP:0001197	Abnormality of prenatal development or birth	5476	CTSA	OMIM:256540
HP:0001197	Abnormality of prenatal development or birth	4864	NPC1	OMIM:257220
HP:0001197	Abnormality of prenatal development or birth	1984	EIF5A	OMIM:619376
HP:0001197	Abnormality of prenatal development or birth	94005	PIGS	OMIM:618143
HP:0001197	Abnormality of prenatal development or birth	3800	KIF5C	OMIM:615282
HP:0001197	Abnormality of prenatal development or birth	3479	IGF1	ORPHA:73272
HP:0001197	Abnormality of prenatal development or birth	7051	TGM1	OMIM:242300
HP:0001197	Abnormality of prenatal development or birth	2312	FLG	ORPHA:461
HP:0001197	Abnormality of prenatal development or birth	412	STS	ORPHA:461
HP:0001197	Abnormality of prenatal development or birth	3141	HLCS	ORPHA:79242
HP:0001197	Abnormality of prenatal development or birth	3981	LIG4	ORPHA:39041
HP:0001197	Abnormality of prenatal development or birth	5896	RAG1	ORPHA:39041
HP:0001197	Abnormality of prenatal development or birth	5897	RAG2	ORPHA:39041
HP:0001197	Abnormality of prenatal development or birth	64421	DCLRE1C	ORPHA:39041
HP:0001197	Abnormality of prenatal development or birth	100	ADA	ORPHA:39041
HP:0001197	Abnormality of prenatal development or birth	3575	IL7R	ORPHA:39041
HP:0001197	Abnormality of prenatal development or birth	3561	IL2RG	ORPHA:39041
HP:0001197	Abnormality of prenatal development or birth	4014	LORICRIN	OMIM:604117
HP:0001197	Abnormality of prenatal development or birth	51371	POMP	OMIM:601952
HP:0001197	Abnormality of prenatal development or birth	2706	GJB2	ORPHA:494
HP:0001197	Abnormality of prenatal development or birth	2706	GJB2	OMIM:124500
HP:0001197	Abnormality of prenatal development or birth	162514	TRPV3	OMIM:614594
HP:0001197	Abnormality of prenatal development or birth	25959	KANK2	OMIM:616099
HP:0001197	Abnormality of prenatal development or birth	55612	FERMT1	OMIM:173650
HP:0001197	Abnormality of prenatal development or birth	3848	KRT1	OMIM:146590
HP:0001197	Abnormality of prenatal development or birth	56916	SMARCAD1	ORPHA:1658
HP:0001197	Abnormality of prenatal development or birth	2697	GJA1	ORPHA:1010
HP:0001197	Abnormality of prenatal development or birth	340533	NEXMIF	OMIM:300912
HP:0001197	Abnormality of prenatal development or birth	2743	GLRB	OMIM:614619
HP:0001197	Abnormality of prenatal development or birth	29895	MYL11	OMIM:619110
HP:0001197	Abnormality of prenatal development or birth	6804	STX1A	ORPHA:904
HP:0001197	Abnormality of prenatal development or birth	7461	CLIP2	ORPHA:904
HP:0001197	Abnormality of prenatal development or birth	84277	DNAJC30	ORPHA:904
HP:0001197	Abnormality of prenatal development or birth	8468	FKBP6	ORPHA:904
HP:0001197	Abnormality of prenatal development or birth	5982	RFC2	ORPHA:904
HP:0001197	Abnormality of prenatal development or birth	2969	GTF2I	ORPHA:904
HP:0001197	Abnormality of prenatal development or birth	3984	LIMK1	ORPHA:904
HP:0001197	Abnormality of prenatal development or birth	9569	GTF2IRD1	ORPHA:904
HP:0001197	Abnormality of prenatal development or birth	155382	VPS37D	ORPHA:904
HP:0001197	Abnormality of prenatal development or birth	155368	METTL27	ORPHA:904
HP:0001197	Abnormality of prenatal development or birth	114049	BUD23	ORPHA:904
HP:0001197	Abnormality of prenatal development or birth	7458	EIF4H	ORPHA:904
HP:0001197	Abnormality of prenatal development or birth	84163	GTF2IRD2	ORPHA:904
HP:0001197	Abnormality of prenatal development or birth	26608	TBL2	ORPHA:904
HP:0001197	Abnormality of prenatal development or birth	653361	NCF1	ORPHA:904
HP:0001197	Abnormality of prenatal development or birth	135886	TMEM270	ORPHA:904
HP:0001197	Abnormality of prenatal development or birth	9031	BAZ1B	ORPHA:904
HP:0001197	Abnormality of prenatal development or birth	2006	ELN	ORPHA:904
HP:0001197	Abnormality of prenatal development or birth	415	ARSL	ORPHA:79345
HP:0001197	Abnormality of prenatal development or birth	83475	DOHH	OMIM:620066
HP:0001197	Abnormality of prenatal development or birth	51741	WWOX	OMIM:616211
HP:0001197	Abnormality of prenatal development or birth	55790	CSGALNACT1	OMIM:618870
HP:0001197	Abnormality of prenatal development or birth	10082	GPC6	ORPHA:93329
HP:0001197	Abnormality of prenatal development or birth	5908	RAP1B	OMIM:620654
HP:0001197	Abnormality of prenatal development or birth	2155	F7	ORPHA:327
HP:0001197	Abnormality of prenatal development or birth	6263	RYR3	OMIM:620310
HP:0001197	Abnormality of prenatal development or birth	5879	RAC1	OMIM:617751
HP:0001197	Abnormality of prenatal development or birth	2258	FGF13	OMIM:301058
HP:0001197	Abnormality of prenatal development or birth	284058	KANSL1	ORPHA:363965
HP:0001197	Abnormality of prenatal development or birth	284058	KANSL1	ORPHA:363958
HP:0001197	Abnormality of prenatal development or birth	1182	CLCN3	OMIM:619512
HP:0001197	Abnormality of prenatal development or birth	10472	ZBTB18	OMIM:612337
HP:0001197	Abnormality of prenatal development or birth	55252	ASXL2	OMIM:617190
HP:0001197	Abnormality of prenatal development or birth	51021	MRPS16	OMIM:610498
HP:0001197	Abnormality of prenatal development or birth	26153	KIF26A	OMIM:620156
HP:0001197	Abnormality of prenatal development or birth	526	ATP6V1B2	ORPHA:79500
HP:0001197	Abnormality of prenatal development or birth	57465	TBC1D24	ORPHA:79500
HP:0001197	Abnormality of prenatal development or birth	57551	TAOK1	OMIM:619575
HP:0001197	Abnormality of prenatal development or birth	6872	TAF1	OMIM:300966
HP:0001197	Abnormality of prenatal development or birth	776	CACNA1D	ORPHA:369929
HP:0001197	Abnormality of prenatal development or birth	55037	PTCD3	OMIM:619057
HP:0001197	Abnormality of prenatal development or birth	23287	AGTPBP1	OMIM:618276
HP:0001197	Abnormality of prenatal development or birth	11128	POLR3A	ORPHA:3455
HP:0001197	Abnormality of prenatal development or birth	4173	MCM4	OMIM:609981
HP:0001197	Abnormality of prenatal development or birth	411	ARSB	OMIM:253200
HP:0001197	Abnormality of prenatal development or birth	1584	CYP11B1	ORPHA:403
HP:0001197	Abnormality of prenatal development or birth	1585	CYP11B2	ORPHA:403
HP:0001197	Abnormality of prenatal development or birth	1917	EEF1A2	OMIM:616393
HP:0001197	Abnormality of prenatal development or birth	3075	CFH	ORPHA:244242
HP:0001197	Abnormality of prenatal development or birth	3426	CFI	ORPHA:244242
HP:0001197	Abnormality of prenatal development or birth	4179	CD46	ORPHA:244242
HP:0001197	Abnormality of prenatal development or birth	101101692	HELLPAR	ORPHA:244242
HP:0001197	Abnormality of prenatal development or birth	7386	UQCRFS1	OMIM:618775
HP:0001197	Abnormality of prenatal development or birth	6811	STX5	OMIM:620454
HP:0001197	Abnormality of prenatal development or birth	23394	ADNP	OMIM:615873
HP:0001197	Abnormality of prenatal development or birth	9152	SLC6A5	OMIM:614618
HP:0001197	Abnormality of prenatal development or birth	55023	PHIP	OMIM:617991
HP:0001197	Abnormality of prenatal development or birth	10588	MTHFS	OMIM:618367
HP:0001197	Abnormality of prenatal development or birth	2157	F8	ORPHA:169802
HP:0001197	Abnormality of prenatal development or birth	8312	AXIN1	OMIM:620558
HP:0001197	Abnormality of prenatal development or birth	2147	F2	ORPHA:325
HP:0001197	Abnormality of prenatal development or birth	2811	GP1BA	ORPHA:853
HP:0001197	Abnormality of prenatal development or birth	3674	ITGA2B	ORPHA:853
HP:0001197	Abnormality of prenatal development or birth	3673	ITGA2	ORPHA:853
HP:0001197	Abnormality of prenatal development or birth	135228	CD109	ORPHA:853
HP:0001197	Abnormality of prenatal development or birth	3690	ITGB3	ORPHA:853
HP:0001197	Abnormality of prenatal development or birth	10128	LRPPRC	OMIM:220111
HP:0001197	Abnormality of prenatal development or birth	25915	NDUFAF3	ORPHA:2609
HP:0001197	Abnormality of prenatal development or birth	51103	NDUFAF1	ORPHA:2609
HP:0001197	Abnormality of prenatal development or birth	91942	NDUFAF2	ORPHA:2609
HP:0001197	Abnormality of prenatal development or birth	51300	TIMMDC1	ORPHA:2609
HP:0001197	Abnormality of prenatal development or birth	4716	NDUFB10	ORPHA:2609
HP:0001197	Abnormality of prenatal development or birth	4723	NDUFV1	ORPHA:2609
HP:0001197	Abnormality of prenatal development or birth	55572	FOXRED1	ORPHA:2609
HP:0001197	Abnormality of prenatal development or birth	284184	NDUFAF8	ORPHA:2609
HP:0001197	Abnormality of prenatal development or birth	55863	TMEM126B	ORPHA:2609
HP:0001197	Abnormality of prenatal development or birth	4535	MT-ND1	ORPHA:2609
HP:0001197	Abnormality of prenatal development or birth	4537	MT-ND3	ORPHA:2609
HP:0001197	Abnormality of prenatal development or birth	4729	NDUFV2	ORPHA:2609
HP:0001197	Abnormality of prenatal development or birth	4694	NDUFA1	ORPHA:2609
HP:0001197	Abnormality of prenatal development or birth	4720	NDUFS2	ORPHA:2609
HP:0001197	Abnormality of prenatal development or birth	4724	NDUFS4	ORPHA:2609
HP:0001197	Abnormality of prenatal development or birth	4726	NDUFS6	ORPHA:2609
HP:0001197	Abnormality of prenatal development or birth	4728	NDUFS8	ORPHA:2609
HP:0001197	Abnormality of prenatal development or birth	4722	NDUFS3	ORPHA:2609
HP:0001197	Abnormality of prenatal development or birth	79133	NDUFAF5	ORPHA:2609
HP:0001197	Abnormality of prenatal development or birth	126328	NDUFA11	ORPHA:2609
HP:0001197	Abnormality of prenatal development or birth	80224	NUBPL	ORPHA:2609
HP:0001197	Abnormality of prenatal development or birth	29078	NDUFAF4	ORPHA:2609
HP:0001197	Abnormality of prenatal development or birth	374291	NDUFS7	ORPHA:2609
HP:0001197	Abnormality of prenatal development or birth	4536	MT-ND2	ORPHA:2609
HP:0001197	Abnormality of prenatal development or birth	4719	NDUFS1	ORPHA:2609
HP:0001197	Abnormality of prenatal development or birth	4715	NDUFB9	ORPHA:2609
HP:0001197	Abnormality of prenatal development or birth	23013	SPEN	OMIM:619312
HP:0001197	Abnormality of prenatal development or birth	10664	CTCF	ORPHA:363611
HP:0001197	Abnormality of prenatal development or birth	2334	AFF2	OMIM:309548
HP:0001197	Abnormality of prenatal development or birth	28962	OSTM1	ORPHA:85179
HP:0001197	Abnormality of prenatal development or birth	4705	NDUFA10	OMIM:618243
HP:0001197	Abnormality of prenatal development or birth	11274	USP18	OMIM:617397
HP:0001197	Abnormality of prenatal development or birth	816	CAMK2B	OMIM:617799
HP:0001197	Abnormality of prenatal development or birth	1788	DNMT3A	OMIM:615879
HP:0001197	Abnormality of prenatal development or birth	9570	GOSR2	OMIM:620166
HP:0001197	Abnormality of prenatal development or birth	6536	SLC6A9	OMIM:617301
HP:0001197	Abnormality of prenatal development or birth	284361	EMC10	OMIM:619264
HP:0001197	Abnormality of prenatal development or birth	56479	KCNQ5	OMIM:617601
HP:0001197	Abnormality of prenatal development or birth	3557	IL1RN	OMIM:612852
HP:0001197	Abnormality of prenatal development or birth	5826	ABCD4	OMIM:614857
HP:0001197	Abnormality of prenatal development or birth	8905	AP1S2	OMIM:304340
HP:0001197	Abnormality of prenatal development or birth	1353	COX11	OMIM:620275
HP:0001197	Abnormality of prenatal development or birth	51163	DBR1	OMIM:620510
HP:0001197	Abnormality of prenatal development or birth	440	ASNS	OMIM:615574
HP:0001197	Abnormality of prenatal development or birth	51117	COQ4	OMIM:616276
HP:0001197	Abnormality of prenatal development or birth	56945	MRPS22	OMIM:611719
HP:0001197	Abnormality of prenatal development or birth	6091	ROBO1	OMIM:620305
HP:0001197	Abnormality of prenatal development or birth	9898	UBAP2L	OMIM:620494
HP:0001197	Abnormality of prenatal development or birth	57688	ZSWIM6	OMIM:603671
HP:0001197	Abnormality of prenatal development or birth	2165	F13B	ORPHA:331
HP:0001197	Abnormality of prenatal development or birth	2162	F13A1	ORPHA:331
HP:0001197	Abnormality of prenatal development or birth	9361	LONP1	ORPHA:79243
HP:0001197	Abnormality of prenatal development or birth	5160	PDHA1	ORPHA:79243
HP:0001197	Abnormality of prenatal development or birth	501	ALDH7A1	ORPHA:3006
HP:0001197	Abnormality of prenatal development or birth	11212	PLPBP	ORPHA:3006
HP:0001197	Abnormality of prenatal development or birth	55784	MCTP2	ORPHA:1596
HP:0001197	Abnormality of prenatal development or birth	5631	PRPS1	ORPHA:423479
HP:0001197	Abnormality of prenatal development or birth	8239	USP9X	ORPHA:480880
HP:0001197	Abnormality of prenatal development or birth	50506	DUOX2	ORPHA:226316
HP:0001197	Abnormality of prenatal development or birth	6638	SNRPN	ORPHA:177904
HP:0001197	Abnormality of prenatal development or birth	6638	SNRPN	ORPHA:177901
HP:0001197	Abnormality of prenatal development or birth	6638	SNRPN	ORPHA:98754
HP:0001197	Abnormality of prenatal development or birth	4692	NDN	ORPHA:177904
HP:0001197	Abnormality of prenatal development or birth	4692	NDN	ORPHA:177901
HP:0001197	Abnormality of prenatal development or birth	4692	NDN	ORPHA:98754
HP:0001197	Abnormality of prenatal development or birth	54551	MAGEL2	ORPHA:177904
HP:0001197	Abnormality of prenatal development or birth	54551	MAGEL2	ORPHA:177901
HP:0001197	Abnormality of prenatal development or birth	54551	MAGEL2	ORPHA:98754
HP:0001197	Abnormality of prenatal development or birth	4948	OCA2	ORPHA:177904
HP:0001197	Abnormality of prenatal development or birth	4948	OCA2	ORPHA:177901
HP:0001197	Abnormality of prenatal development or birth	4948	OCA2	ORPHA:98754
HP:0001197	Abnormality of prenatal development or birth	10984	KCNQ1OT1	OMIM:130650
HP:0001197	Abnormality of prenatal development or birth	199713	NLRP7	OMIM:231090
HP:0001197	Abnormality of prenatal development or birth	154288	KHDC3L	OMIM:614293
HP:0001197	Abnormality of prenatal development or birth	150365	MEI1	OMIM:618431
HP:0001197	Abnormality of prenatal development or birth	79703	TOP6BL	OMIM:618432
HP:0001197	Abnormality of prenatal development or birth	3689	ITGB2	OMIM:116920
HP:0001197	Abnormality of prenatal development or birth	5880	RAC2	OMIM:608203
HP:0001197	Abnormality of prenatal development or birth	3572	IL6ST	OMIM:619752
HP:0001197	Abnormality of prenatal development or birth	4615	MYD88	OMIM:612260
HP:0001197	Abnormality of prenatal development or birth	6603	SMARCD2	OMIM:617475
HP:0001197	Abnormality of prenatal development or birth	10616	RBCK1	OMIM:615895
HP:0001197	Abnormality of prenatal development or birth	92579	G6PC3	OMIM:612541
HP:0001197	Abnormality of prenatal development or birth	2215	FCGR3B	ORPHA:464370
HP:0001197	Abnormality of prenatal development or birth	55072	RNF31	OMIM:620632
HP:0001197	Abnormality of prenatal development or birth	714	C1QC	OMIM:620322
HP:0001197	Abnormality of prenatal development or birth	10092	ARPC5	OMIM:620565
HP:0001197	Abnormality of prenatal development or birth	353238	PADI6	OMIM:617234
HP:0001197	Abnormality of prenatal development or birth	286151	FBXO43	OMIM:619697
HP:0001197	Abnormality of prenatal development or birth	54766	BTG4	OMIM:619009
HP:0001197	Abnormality of prenatal development or birth	1111	CHEK1	OMIM:620610
HP:0001197	Abnormality of prenatal development or birth	80726	IQCN	OMIM:620170
HP:0001197	Abnormality of prenatal development or birth	678	ZFP36L2	OMIM:620154
HP:0001197	Abnormality of prenatal development or birth	283677	REC114	OMIM:619176
HP:0001197	Abnormality of prenatal development or birth	79645	CLXN	OMIM:620642
HP:0001197	Abnormality of prenatal development or birth	6925	TCF4	OMIM:610954
HP:0001197	Abnormality of prenatal development or birth	2321	FLT1	ORPHA:275555
HP:0001197	Abnormality of prenatal development or birth	219736	STOX1	ORPHA:275555
HP:0001197	Abnormality of prenatal development or birth	10699	CORIN	ORPHA:275555
HP:0001197	Abnormality of prenatal development or birth	57061	HYMAI	ORPHA:96191
HP:0001197	Abnormality of prenatal development or birth	5325	PLAGL1	ORPHA:96191
HP:0001197	Abnormality of prenatal development or birth	6711	SPTBN1	OMIM:619475
HP:0001197	Abnormality of prenatal development or birth	7157	TP53	OMIM:151623
HP:0001197	Abnormality of prenatal development or birth	7157	TP53	ORPHA:524
HP:0001197	Abnormality of prenatal development or birth	1029	CDKN2A	ORPHA:524
HP:0001197	Abnormality of prenatal development or birth	4193	MDM2	ORPHA:524
HP:0001197	Abnormality of prenatal development or birth	11200	CHEK2	ORPHA:524
HP:0001197	Abnormality of prenatal development or birth	8915	BCL10	OMIM:273300
HP:0001197	Abnormality of prenatal development or birth	3815	KIT	OMIM:273300
HP:0001197	Abnormality of prenatal development or birth	6794	STK11	OMIM:273300
HP:0001197	Abnormality of prenatal development or birth	215	ABCD1	ORPHA:388
HP:0001197	Abnormality of prenatal development or birth	5979	RET	ORPHA:388
HP:0001197	Abnormality of prenatal development or birth	2668	GDNF	ORPHA:388
HP:0001197	Abnormality of prenatal development or birth	6608	SMO	ORPHA:388
HP:0001197	Abnormality of prenatal development or birth	1889	ECE1	ORPHA:388
HP:0001197	Abnormality of prenatal development or birth	6720	SREBF1	ORPHA:388
HP:0001197	Abnormality of prenatal development or birth	1908	EDN3	ORPHA:388
HP:0001197	Abnormality of prenatal development or birth	223117	SEMA3D	ORPHA:388
HP:0001197	Abnormality of prenatal development or birth	538	ATP7A	ORPHA:388
HP:0001197	Abnormality of prenatal development or birth	1910	EDNRB	ORPHA:388
HP:0001197	Abnormality of prenatal development or birth	10512	SEMA3C	ORPHA:388
HP:0001197	Abnormality of prenatal development or birth	2064	ERBB2	ORPHA:388
HP:0001197	Abnormality of prenatal development or birth	2065	ERBB3	ORPHA:388
HP:0001197	Abnormality of prenatal development or birth	4902	NRTN	ORPHA:388
HP:0001197	Abnormality of prenatal development or birth	80144	FRAS1	OMIM:219000
HP:0004368	Increased circulating purine concentration	7498	XDH	OMIM:278300
HP:0004368	Increased circulating purine concentration	55034	MOCOS	OMIM:603592
HP:0004368	Increased circulating purine concentration	4860	PNP	OMIM:613179
HP:0001939	Abnormality of metabolism/homeostasis	2132	EXT2	OMIM:616682
HP:0001939	Abnormality of metabolism/homeostasis	84942	WDR73	OMIM:251300
HP:0001939	Abnormality of metabolism/homeostasis	84942	WDR73	ORPHA:2065
HP:0001939	Abnormality of metabolism/homeostasis	9968	MED12	ORPHA:2728
HP:0001939	Abnormality of metabolism/homeostasis	8526	DGKE	OMIM:615008
HP:0001939	Abnormality of metabolism/homeostasis	79693	YRDC	OMIM:619609
HP:0001939	Abnormality of metabolism/homeostasis	79693	YRDC	ORPHA:2065
HP:0001939	Abnormality of metabolism/homeostasis	81693	AMN	ORPHA:35858
HP:0001939	Abnormality of metabolism/homeostasis	81693	AMN	OMIM:618882
HP:0001939	Abnormality of metabolism/homeostasis	10559	SLC35A1	OMIM:603585
HP:0001939	Abnormality of metabolism/homeostasis	2538	G6PC1	OMIM:232200
HP:0001939	Abnormality of metabolism/homeostasis	83480	PUS3	ORPHA:488627
HP:0001939	Abnormality of metabolism/homeostasis	63894	VIPAS39	OMIM:613404
HP:0001939	Abnormality of metabolism/homeostasis	4036	LRP2	ORPHA:2143
HP:0001939	Abnormality of metabolism/homeostasis	4036	LRP2	OMIM:222448
HP:0001939	Abnormality of metabolism/homeostasis	5972	REN	OMIM:613092
HP:0001939	Abnormality of metabolism/homeostasis	2321	FLT1	ORPHA:275555
HP:0001939	Abnormality of metabolism/homeostasis	219736	STOX1	ORPHA:275555
HP:0001939	Abnormality of metabolism/homeostasis	3675	ITGA3	OMIM:614748
HP:0001939	Abnormality of metabolism/homeostasis	4094	MAF	ORPHA:1272
HP:0001939	Abnormality of metabolism/homeostasis	25836	NIPBL	OMIM:122470
HP:0001939	Abnormality of metabolism/homeostasis	2303	FOXC2	ORPHA:33001
HP:0001939	Abnormality of metabolism/homeostasis	51004	COQ6	OMIM:614650
HP:0001939	Abnormality of metabolism/homeostasis	7535	ZAP70	OMIM:617006
HP:0001939	Abnormality of metabolism/homeostasis	81603	TRIM8	OMIM:619428
HP:0001939	Abnormality of metabolism/homeostasis	10785	WDR4	OMIM:618347
HP:0001939	Abnormality of metabolism/homeostasis	10785	WDR4	ORPHA:2065
HP:0001939	Abnormality of metabolism/homeostasis	55243	KIRREL1	OMIM:619201
HP:0001939	Abnormality of metabolism/homeostasis	9342	SNAP29	ORPHA:66631
HP:0001939	Abnormality of metabolism/homeostasis	5625	PRODH	ORPHA:419
HP:0001939	Abnormality of metabolism/homeostasis	112858	TP53RK	OMIM:617730
HP:0001939	Abnormality of metabolism/homeostasis	112858	TP53RK	ORPHA:2065
HP:0001939	Abnormality of metabolism/homeostasis	8270	LAGE3	OMIM:301006
HP:0001939	Abnormality of metabolism/homeostasis	8270	LAGE3	ORPHA:2065
HP:0001939	Abnormality of metabolism/homeostasis	9935	MAFB	ORPHA:2774
HP:0001939	Abnormality of metabolism/homeostasis	9935	MAFB	OMIM:166300
HP:0001939	Abnormality of metabolism/homeostasis	29071	C1GALT1C1	OMIM:301110
HP:0001939	Abnormality of metabolism/homeostasis	8516	ITGA8	OMIM:191830
HP:0001939	Abnormality of metabolism/homeostasis	57728	WDR19	OMIM:614376
HP:0001939	Abnormality of metabolism/homeostasis	57728	WDR19	OMIM:614377
HP:0001939	Abnormality of metabolism/homeostasis	4627	MYH9	ORPHA:182050
HP:0001939	Abnormality of metabolism/homeostasis	84520	GON7	ORPHA:2065
HP:0001939	Abnormality of metabolism/homeostasis	9368	NHERF1	OMIM:612287
HP:0001939	Abnormality of metabolism/homeostasis	6337	SCNN1A	OMIM:264350
HP:0001939	Abnormality of metabolism/homeostasis	1589	CYP21A2	OMIM:201910
HP:0001939	Abnormality of metabolism/homeostasis	6770	STAR	OMIM:201710
HP:0001939	Abnormality of metabolism/homeostasis	6770	STAR	ORPHA:361
HP:0001939	Abnormality of metabolism/homeostasis	7809	BSND	ORPHA:89938
HP:0001939	Abnormality of metabolism/homeostasis	7809	BSND	OMIM:602522
HP:0001939	Abnormality of metabolism/homeostasis	1187	CLCNKA	ORPHA:89938
HP:0001939	Abnormality of metabolism/homeostasis	1187	CLCNKA	OMIM:613090
HP:0001939	Abnormality of metabolism/homeostasis	9231	DLG5	OMIM:620703
HP:0001939	Abnormality of metabolism/homeostasis	1583	CYP11A1	ORPHA:168558
HP:0001939	Abnormality of metabolism/homeostasis	1583	CYP11A1	ORPHA:289548
HP:0001939	Abnormality of metabolism/homeostasis	1583	CYP11A1	OMIM:613743
HP:0001939	Abnormality of metabolism/homeostasis	1585	CYP11B2	OMIM:203400
HP:0001939	Abnormality of metabolism/homeostasis	1585	CYP11B2	OMIM:610600
HP:0001939	Abnormality of metabolism/homeostasis	56246	MRAP	ORPHA:361
HP:0001939	Abnormality of metabolism/homeostasis	4158	MC2R	ORPHA:361
HP:0001939	Abnormality of metabolism/homeostasis	23530	NNT	ORPHA:361
HP:0001939	Abnormality of metabolism/homeostasis	23530	NNT	OMIM:614736
HP:0001939	Abnormality of metabolism/homeostasis	10587	TXNRD2	ORPHA:361
HP:0001939	Abnormality of metabolism/homeostasis	190	NR0B1	OMIM:300200
HP:0001939	Abnormality of metabolism/homeostasis	6557	SLC12A1	OMIM:601678
HP:0001939	Abnormality of metabolism/homeostasis	3758	KCNJ1	OMIM:241200
HP:0001939	Abnormality of metabolism/homeostasis	4582	MUC1	OMIM:174000
HP:0001939	Abnormality of metabolism/homeostasis	3773	KCNJ16	OMIM:619406
HP:0001939	Abnormality of metabolism/homeostasis	54938	SARS2	OMIM:613845
HP:0001939	Abnormality of metabolism/homeostasis	3284	HSD3B2	ORPHA:90791
HP:0001939	Abnormality of metabolism/homeostasis	1584	CYP11B1	ORPHA:90795
HP:0001939	Abnormality of metabolism/homeostasis	476	ATP1A1	OMIM:618314
HP:0001939	Abnormality of metabolism/homeostasis	476	ATP1A1	ORPHA:564178
HP:0001939	Abnormality of metabolism/homeostasis	9401	RECQL4	ORPHA:221016
HP:0001939	Abnormality of metabolism/homeostasis	7512	XPNPEP2	ORPHA:100057
HP:0001939	Abnormality of metabolism/homeostasis	5340	PLG	OMIM:619360
HP:0001939	Abnormality of metabolism/homeostasis	284	ANGPT1	OMIM:619361
HP:0001939	Abnormality of metabolism/homeostasis	26509	MYOF	OMIM:619366
HP:0001939	Abnormality of metabolism/homeostasis	64711	HS3ST6	OMIM:619367
HP:0001939	Abnormality of metabolism/homeostasis	3827	KNG1	OMIM:619363
HP:0001939	Abnormality of metabolism/homeostasis	2161	F12	OMIM:610618
HP:0001939	Abnormality of metabolism/homeostasis	64682	ANAPC1	ORPHA:221008
HP:0001939	Abnormality of metabolism/homeostasis	4010	LMX1B	ORPHA:2614
HP:0001939	Abnormality of metabolism/homeostasis	4010	LMX1B	OMIM:161200
HP:0001939	Abnormality of metabolism/homeostasis	55746	NUP133	OMIM:618349
HP:0001939	Abnormality of metabolism/homeostasis	4179	CD46	OMIM:612922
HP:0001939	Abnormality of metabolism/homeostasis	629	CFB	OMIM:612924
HP:0001939	Abnormality of metabolism/homeostasis	56606	SLC2A9	ORPHA:94088
HP:0001939	Abnormality of metabolism/homeostasis	116085	SLC22A12	ORPHA:94088
HP:0001939	Abnormality of metabolism/homeostasis	3426	CFI	OMIM:612923
HP:0001939	Abnormality of metabolism/homeostasis	1776	DNASE1L3	ORPHA:36412
HP:0001939	Abnormality of metabolism/homeostasis	7056	THBD	OMIM:612926
HP:0001939	Abnormality of metabolism/homeostasis	718	C3	OMIM:612925
HP:0001939	Abnormality of metabolism/homeostasis	3655	ITGA6	ORPHA:79403
HP:0001939	Abnormality of metabolism/homeostasis	3691	ITGB4	ORPHA:79403
HP:0001939	Abnormality of metabolism/homeostasis	6720	SREBF1	OMIM:158310
HP:0001939	Abnormality of metabolism/homeostasis	2158	F9	OMIM:306900
HP:0001939	Abnormality of metabolism/homeostasis	23607	CD2AP	OMIM:607832
HP:0001939	Abnormality of metabolism/homeostasis	23395	LARS2	OMIM:617021
HP:0001939	Abnormality of metabolism/homeostasis	25959	KANK2	OMIM:617783
HP:0001939	Abnormality of metabolism/homeostasis	10413	YAP1	ORPHA:1473
HP:0001939	Abnormality of metabolism/homeostasis	10413	YAP1	OMIM:120433
HP:0001939	Abnormality of metabolism/homeostasis	10686	CLDN16	OMIM:248250
HP:0001939	Abnormality of metabolism/homeostasis	7248	TSC1	ORPHA:538
HP:0001939	Abnormality of metabolism/homeostasis	7249	TSC2	ORPHA:538
HP:0001939	Abnormality of metabolism/homeostasis	1286	COL4A4	OMIM:141200
HP:0001939	Abnormality of metabolism/homeostasis	1286	COL4A4	OMIM:203780
HP:0001939	Abnormality of metabolism/homeostasis	6523	SLC5A1	ORPHA:35710
HP:0001939	Abnormality of metabolism/homeostasis	2215	FCGR3B	ORPHA:536
HP:0001939	Abnormality of metabolism/homeostasis	3684	ITGAM	ORPHA:536
HP:0001939	Abnormality of metabolism/homeostasis	221895	JAZF1	ORPHA:536
HP:0001939	Abnormality of metabolism/homeostasis	7292	TNFSF4	ORPHA:536
HP:0001939	Abnormality of metabolism/homeostasis	55024	BANK1	ORPHA:536
HP:0001939	Abnormality of metabolism/homeostasis	3500	IGHG1	ORPHA:536
HP:0001939	Abnormality of metabolism/homeostasis	1380	CR2	ORPHA:536
HP:0001939	Abnormality of metabolism/homeostasis	5133	PDCD1	ORPHA:536
HP:0001939	Abnormality of metabolism/homeostasis	2113	ETS1	ORPHA:536
HP:0001939	Abnormality of metabolism/homeostasis	2213	FCGR2B	ORPHA:536
HP:0001939	Abnormality of metabolism/homeostasis	10318	TNIP1	ORPHA:536
HP:0001939	Abnormality of metabolism/homeostasis	7332	UBE2L3	ORPHA:536
HP:0001939	Abnormality of metabolism/homeostasis	79932	KIAA0319L	ORPHA:536
HP:0001939	Abnormality of metabolism/homeostasis	3663	IRF5	ORPHA:536
HP:0001939	Abnormality of metabolism/homeostasis	721	C4B	ORPHA:536
HP:0001939	Abnormality of metabolism/homeostasis	1773	DNASE1	ORPHA:536
HP:0001939	Abnormality of metabolism/homeostasis	51284	TLR7	ORPHA:536
HP:0001939	Abnormality of metabolism/homeostasis	54899	PXK	ORPHA:536
HP:0001939	Abnormality of metabolism/homeostasis	7128	TNFAIP3	ORPHA:536
HP:0001939	Abnormality of metabolism/homeostasis	1801	DPH1	OMIM:616901
HP:0001939	Abnormality of metabolism/homeostasis	55109	AGGF1	ORPHA:90308
HP:0001939	Abnormality of metabolism/homeostasis	2159	F10	ORPHA:328
HP:0001939	Abnormality of metabolism/homeostasis	7428	VHL	ORPHA:276621
HP:0001939	Abnormality of metabolism/homeostasis	7428	VHL	ORPHA:29072
HP:0001939	Abnormality of metabolism/homeostasis	5979	RET	ORPHA:276621
HP:0001939	Abnormality of metabolism/homeostasis	5979	RET	ORPHA:29072
HP:0001939	Abnormality of metabolism/homeostasis	1788	DNMT3A	ORPHA:276621
HP:0001939	Abnormality of metabolism/homeostasis	2034	EPAS1	ORPHA:276621
HP:0001939	Abnormality of metabolism/homeostasis	6392	SDHD	ORPHA:276621
HP:0001939	Abnormality of metabolism/homeostasis	6392	SDHD	ORPHA:29072
HP:0001939	Abnormality of metabolism/homeostasis	6390	SDHB	ORPHA:276621
HP:0001939	Abnormality of metabolism/homeostasis	6390	SDHB	ORPHA:29072
HP:0001939	Abnormality of metabolism/homeostasis	9103	FCGR2C	ORPHA:3002
HP:0001939	Abnormality of metabolism/homeostasis	2717	GLA	ORPHA:324
HP:0001939	Abnormality of metabolism/homeostasis	2153	F5	ORPHA:326
HP:0001939	Abnormality of metabolism/homeostasis	27031	NPHP3	OMIM:604387
HP:0001939	Abnormality of metabolism/homeostasis	54	ACP5	ORPHA:1855
HP:0001939	Abnormality of metabolism/homeostasis	3251	HPRT1	ORPHA:510
HP:0001939	Abnormality of metabolism/homeostasis	29927	SEC61A1	OMIM:617056
HP:0001939	Abnormality of metabolism/homeostasis	1743	DLST	ORPHA:29072
HP:0001939	Abnormality of metabolism/homeostasis	4191	MDH2	ORPHA:29072
HP:0001939	Abnormality of metabolism/homeostasis	6389	SDHA	ORPHA:29072
HP:0001939	Abnormality of metabolism/homeostasis	23095	KIF1B	ORPHA:29072
HP:0001939	Abnormality of metabolism/homeostasis	2271	FH	ORPHA:29072
HP:0001939	Abnormality of metabolism/homeostasis	8402	SLC25A11	ORPHA:29072
HP:0001939	Abnormality of metabolism/homeostasis	54949	SDHAF2	ORPHA:29072
HP:0001939	Abnormality of metabolism/homeostasis	55654	TMEM127	ORPHA:29072
HP:0001939	Abnormality of metabolism/homeostasis	4763	NF1	ORPHA:29072
HP:0001939	Abnormality of metabolism/homeostasis	6391	SDHC	ORPHA:29072
HP:0001939	Abnormality of metabolism/homeostasis	4149	MAX	ORPHA:29072
HP:0001939	Abnormality of metabolism/homeostasis	1282	COL4A1	ORPHA:73229
HP:0001939	Abnormality of metabolism/homeostasis	1282	COL4A1	OMIM:611773
HP:0001939	Abnormality of metabolism/homeostasis	5345	SERPINF2	ORPHA:79
HP:0001939	Abnormality of metabolism/homeostasis	3075	CFH	OMIM:609814
HP:0001939	Abnormality of metabolism/homeostasis	3998	LMAN1	ORPHA:35909
HP:0001939	Abnormality of metabolism/homeostasis	90411	MCFD2	ORPHA:35909
HP:0001939	Abnormality of metabolism/homeostasis	9688	NUP93	OMIM:616892
HP:0001939	Abnormality of metabolism/homeostasis	6786	STIM1	OMIM:185070
HP:0001939	Abnormality of metabolism/homeostasis	2625	GATA3	OMIM:146255
HP:0001939	Abnormality of metabolism/homeostasis	10253	SPRY2	OMIM:616818
HP:0001939	Abnormality of metabolism/homeostasis	2811	GP1BA	ORPHA:853
HP:0001939	Abnormality of metabolism/homeostasis	2812	GP1BB	ORPHA:853
HP:0001939	Abnormality of metabolism/homeostasis	3674	ITGA2B	ORPHA:853
HP:0001939	Abnormality of metabolism/homeostasis	3673	ITGA2	ORPHA:853
HP:0001939	Abnormality of metabolism/homeostasis	135228	CD109	ORPHA:853
HP:0001939	Abnormality of metabolism/homeostasis	3690	ITGB3	ORPHA:853
HP:0001939	Abnormality of metabolism/homeostasis	7369	UMOD	OMIM:162000
HP:0001939	Abnormality of metabolism/homeostasis	2157	F8	ORPHA:169805
HP:0001939	Abnormality of metabolism/homeostasis	5213	PFKM	OMIM:232800
HP:0001939	Abnormality of metabolism/homeostasis	1285	COL4A3	OMIM:104200
HP:0001939	Abnormality of metabolism/homeostasis	6928	HNF1B	ORPHA:1309
HP:0001939	Abnormality of metabolism/homeostasis	4853	NOTCH2	OMIM:610205
HP:0001939	Abnormality of metabolism/homeostasis	5076	PAX2	OMIM:120330
HP:0001939	Abnormality of metabolism/homeostasis	6774	STAT3	ORPHA:520
HP:0001939	Abnormality of metabolism/homeostasis	5371	PML	ORPHA:520
HP:0001939	Abnormality of metabolism/homeostasis	5914	RARA	ORPHA:520
HP:0001939	Abnormality of metabolism/homeostasis	359948	IRF2BP2	ORPHA:520
HP:0001939	Abnormality of metabolism/homeostasis	81608	FIP1L1	ORPHA:520
HP:0001939	Abnormality of metabolism/homeostasis	4869	NPM1	ORPHA:520
HP:0001939	Abnormality of metabolism/homeostasis	54880	BCOR	ORPHA:520
HP:0001939	Abnormality of metabolism/homeostasis	64859	NABP1	ORPHA:520
HP:0001939	Abnormality of metabolism/homeostasis	6777	STAT5B	ORPHA:520
HP:0001939	Abnormality of metabolism/homeostasis	4926	NUMA1	ORPHA:520
HP:0001939	Abnormality of metabolism/homeostasis	7704	ZBTB16	ORPHA:520
HP:0001939	Abnormality of metabolism/homeostasis	79718	TBL1XR1	ORPHA:520
HP:0001939	Abnormality of metabolism/homeostasis	10568	SLC34A2	ORPHA:60025
HP:0001939	Abnormality of metabolism/homeostasis	4643	MYO1E	OMIM:614131
HP:0001939	Abnormality of metabolism/homeostasis	84823	LMNB2	OMIM:608709
HP:0001939	Abnormality of metabolism/homeostasis	7372	UMPS	OMIM:258900
HP:0001939	Abnormality of metabolism/homeostasis	5052	PRDX1	OMIM:277400
HP:0001939	Abnormality of metabolism/homeostasis	25974	MMACHC	OMIM:277400
HP:0001939	Abnormality of metabolism/homeostasis	22909	FAN1	OMIM:614817
HP:0001939	Abnormality of metabolism/homeostasis	1288	COL4A6	ORPHA:1018
HP:0001939	Abnormality of metabolism/homeostasis	1287	COL4A5	ORPHA:1018
HP:0001939	Abnormality of metabolism/homeostasis	81555	YIPF5	OMIM:619278
HP:0001939	Abnormality of metabolism/homeostasis	55627	SMPD4	OMIM:618622
HP:0001939	Abnormality of metabolism/homeostasis	7068	THRB	OMIM:274300
HP:0001939	Abnormality of metabolism/homeostasis	256297	PTF1A	OMIM:609069
HP:0001939	Abnormality of metabolism/homeostasis	256297	PTF1A	OMIM:615935
HP:0001939	Abnormality of metabolism/homeostasis	60675	PROK2	OMIM:610628
HP:0001939	Abnormality of metabolism/homeostasis	63916	ELMO2	ORPHA:3019
HP:0001939	Abnormality of metabolism/homeostasis	169792	GLIS3	OMIM:610199
HP:0001939	Abnormality of metabolism/homeostasis	150	ADRA2A	OMIM:620679
HP:0001939	Abnormality of metabolism/homeostasis	79631	EFL1	ORPHA:811
HP:0001939	Abnormality of metabolism/homeostasis	51119	SBDS	ORPHA:811
HP:0001939	Abnormality of metabolism/homeostasis	6638	SNRPN	ORPHA:177904
HP:0001939	Abnormality of metabolism/homeostasis	6638	SNRPN	ORPHA:177901
HP:0001939	Abnormality of metabolism/homeostasis	6638	SNRPN	ORPHA:98754
HP:0001939	Abnormality of metabolism/homeostasis	4692	NDN	ORPHA:177904
HP:0001939	Abnormality of metabolism/homeostasis	4692	NDN	ORPHA:177901
HP:0001939	Abnormality of metabolism/homeostasis	4692	NDN	ORPHA:98754
HP:0001939	Abnormality of metabolism/homeostasis	84196	USP48	ORPHA:96253
HP:0001939	Abnormality of metabolism/homeostasis	64072	CDH23	ORPHA:96253
HP:0001939	Abnormality of metabolism/homeostasis	546	ATRX	ORPHA:96253
HP:0001939	Abnormality of metabolism/homeostasis	7274	TTPA	ORPHA:96
HP:0001939	Abnormality of metabolism/homeostasis	8091	HMGA2	ORPHA:94063
HP:0001939	Abnormality of metabolism/homeostasis	23592	LEMD3	ORPHA:94063
HP:0001939	Abnormality of metabolism/homeostasis	51651	PTRH2	ORPHA:456312
HP:0001939	Abnormality of metabolism/homeostasis	51651	PTRH2	OMIM:616263
HP:0001939	Abnormality of metabolism/homeostasis	2992	GYG1	ORPHA:263297
HP:0001939	Abnormality of metabolism/homeostasis	285282	RABL3	ORPHA:1333
HP:0001939	Abnormality of metabolism/homeostasis	23022	PALLD	ORPHA:1333
HP:0001939	Abnormality of metabolism/homeostasis	2707	GJB3	ORPHA:317
HP:0001939	Abnormality of metabolism/homeostasis	2531	KDSR	ORPHA:317
HP:0001939	Abnormality of metabolism/homeostasis	127534	GJB4	ORPHA:317
HP:0001939	Abnormality of metabolism/homeostasis	165	AEBP1	ORPHA:536532
HP:0001939	Abnormality of metabolism/homeostasis	3975	LHX1	ORPHA:261265
HP:0001939	Abnormality of metabolism/homeostasis	5566	PRKACA	OMIM:615830
HP:0001939	Abnormality of metabolism/homeostasis	493856	CISD2	ORPHA:3463
HP:0001939	Abnormality of metabolism/homeostasis	493856	CISD2	OMIM:604928
HP:0001939	Abnormality of metabolism/homeostasis	79759	ZNF668	OMIM:620194
HP:0001939	Abnormality of metabolism/homeostasis	5244	ABCB4	ORPHA:69663
HP:0001939	Abnormality of metabolism/homeostasis	2642	GCGR	ORPHA:438274
HP:0001939	Abnormality of metabolism/homeostasis	51124	IER3IP1	OMIM:614231
HP:0001939	Abnormality of metabolism/homeostasis	4205	MEF2A	OMIM:608320
HP:0001939	Abnormality of metabolism/homeostasis	4854	NOTCH3	ORPHA:136
HP:0001939	Abnormality of metabolism/homeostasis	5879	RAC1	ORPHA:500159
HP:0001939	Abnormality of metabolism/homeostasis	1968	EIF2S3	ORPHA:85282
HP:0001939	Abnormality of metabolism/homeostasis	4693	NDP	ORPHA:649
HP:0001939	Abnormality of metabolism/homeostasis	3514	IGKC	ORPHA:183675
HP:0001939	Abnormality of metabolism/homeostasis	3501	IGHG2	ORPHA:183675
HP:0001939	Abnormality of metabolism/homeostasis	5611	DNAJC3	ORPHA:445062
HP:0001939	Abnormality of metabolism/homeostasis	80067	DCAF17	OMIM:241080
HP:0001939	Abnormality of metabolism/homeostasis	23503	ZFYVE26	ORPHA:100996
HP:0001939	Abnormality of metabolism/homeostasis	80169	CTC1	ORPHA:1775
HP:0001939	Abnormality of metabolism/homeostasis	26277	TINF2	ORPHA:1775
HP:0001939	Abnormality of metabolism/homeostasis	55651	NHP2	ORPHA:1775
HP:0001939	Abnormality of metabolism/homeostasis	55135	WRAP53	ORPHA:1775
HP:0001939	Abnormality of metabolism/homeostasis	51750	RTEL1	ORPHA:1775
HP:0001939	Abnormality of metabolism/homeostasis	7012	TERC	ORPHA:1775
HP:0001939	Abnormality of metabolism/homeostasis	55505	NOP10	ORPHA:1775
HP:0001939	Abnormality of metabolism/homeostasis	5073	PARN	ORPHA:1775
HP:0001939	Abnormality of metabolism/homeostasis	1736	DKC1	ORPHA:1775
HP:0001939	Abnormality of metabolism/homeostasis	7298	TYMS	ORPHA:1775
HP:0001939	Abnormality of metabolism/homeostasis	25886	POC1A	OMIM:614813
HP:0001939	Abnormality of metabolism/homeostasis	3480	IGF1R	OMIM:270450
HP:0001939	Abnormality of metabolism/homeostasis	389692	MAFA	OMIM:147630
HP:0001939	Abnormality of metabolism/homeostasis	8085	KMT2D	ORPHA:2322
HP:0001939	Abnormality of metabolism/homeostasis	7403	KDM6A	ORPHA:2322
HP:0001939	Abnormality of metabolism/homeostasis	7351	UCP2	ORPHA:276556
HP:0001939	Abnormality of metabolism/homeostasis	7840	ALMS1	ORPHA:64
HP:0001939	Abnormality of metabolism/homeostasis	7840	ALMS1	OMIM:203800
HP:0001939	Abnormality of metabolism/homeostasis	10269	ZMPSTE24	OMIM:608612
HP:0001939	Abnormality of metabolism/homeostasis	92840	REEP6	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	6094	ROM1	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	6017	RLBP1	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	7401	CLRN1	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	24	ABCA4	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	130557	ZNF513	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	582	BBS1	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	92211	CDHR1	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	23568	ARL2BP	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	6121	RPE65	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	54806	AHI1	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	6101	RP1	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	3419	IDH3A	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	4751	NEK2	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	346007	EYS	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	8100	IFT88	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	23020	SNRNP200	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	762	CA4	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	138050	HGSNAT	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	196	AHR	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	3614	IMPDH1	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	123016	TTC8	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	6103	RPGR	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	1406	CRX	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	5148	PDE6G	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	26160	IFT172	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	26121	PRPF31	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	583	BBS2	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	4117	MAK	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	25794	FSCN2	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	375298	CERKL	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	3420	IDH3B	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	57670	KIAA1549	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	7275	TUB	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	24148	PRPF6	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	23418	CRB1	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	10461	MERTK	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	57709	SLC7A14	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	768206	PRCD	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	7399	USH2A	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	23370	ARHGEF18	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	5949	RBP3	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	6010	RHO	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	6100	RP9	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	10002	NR2E3	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	9227	LRAT	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	84140	FAM161A	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	55812	SPATA7	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	55624	POMGNT1	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	79797	ZNF408	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	5145	PDE6A	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	10210	TOPORS	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	8842	PROM1	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	9128	PRPF4	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	145226	RDH12	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	50939	IMPG2	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	57545	CC2D2A	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	8481	OFD1	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	49855	SCAPER	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	2979	GUCA1B	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	1259	CNGA1	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	1258	CNGB1	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	60509	AGBL5	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	5961	PRPH2	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	388939	PCARE	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	7439	BEST1	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	9785	DHX38	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	7287	TULP1	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	5995	RGR	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	9129	PRPF3	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	3617	IMPG1	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	94137	RP1L1	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	5158	PDE6B	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	6102	RP2	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	55857	KIZ	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	64218	SEMA4A	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	4901	NRL	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	157657	CFAP418	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	10594	PRPF8	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	84100	ARL6	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	6295	SAG	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	79947	DHDDS	ORPHA:791
HP:0001939	Abnormality of metabolism/homeostasis	6492	SIM1	ORPHA:369873
HP:0001939	Abnormality of metabolism/homeostasis	26580	BSCL2	OMIM:269700
HP:0001939	Abnormality of metabolism/homeostasis	26580	BSCL2	ORPHA:363400
HP:0001939	Abnormality of metabolism/homeostasis	26580	BSCL2	ORPHA:528
HP:0001939	Abnormality of metabolism/homeostasis	5122	PCSK1	ORPHA:71528
HP:0001939	Abnormality of metabolism/homeostasis	4160	MC4R	ORPHA:71529
HP:0001939	Abnormality of metabolism/homeostasis	4160	MC4R	OMIM:618406
HP:0001939	Abnormality of metabolism/homeostasis	5443	POMC	ORPHA:71526
HP:0001939	Abnormality of metabolism/homeostasis	4221	MEN1	ORPHA:97279
HP:0001939	Abnormality of metabolism/homeostasis	7528	YY1	ORPHA:97279
HP:0001939	Abnormality of metabolism/homeostasis	23137	SMC5	OMIM:620185
HP:0001939	Abnormality of metabolism/homeostasis	2099	ESR1	ORPHA:785
HP:0001939	Abnormality of metabolism/homeostasis	2099	ESR1	OMIM:615363
HP:0001939	Abnormality of metabolism/homeostasis	5346	PLIN1	ORPHA:280356
HP:0001939	Abnormality of metabolism/homeostasis	5468	PPARG	OMIM:604367
HP:0001939	Abnormality of metabolism/homeostasis	5468	PPARG	ORPHA:528
HP:0001939	Abnormality of metabolism/homeostasis	25970	SH2B1	ORPHA:329249
HP:0001939	Abnormality of metabolism/homeostasis	1363	CPE	OMIM:619326
HP:0001939	Abnormality of metabolism/homeostasis	3952	LEP	ORPHA:66628
HP:0001939	Abnormality of metabolism/homeostasis	11145	PLAAT3	OMIM:620683
HP:0001939	Abnormality of metabolism/homeostasis	10555	AGPAT2	ORPHA:528
HP:0001939	Abnormality of metabolism/homeostasis	10555	AGPAT2	OMIM:608594
HP:0001939	Abnormality of metabolism/homeostasis	284119	CAVIN1	ORPHA:528
HP:0001939	Abnormality of metabolism/homeostasis	284119	CAVIN1	OMIM:613327
HP:0001939	Abnormality of metabolism/homeostasis	2353	FOS	ORPHA:528
HP:0001939	Abnormality of metabolism/homeostasis	857	CAV1	ORPHA:528
HP:0001939	Abnormality of metabolism/homeostasis	5130	PCYT1A	OMIM:620680
HP:0001939	Abnormality of metabolism/homeostasis	109	ADCY3	OMIM:617885
HP:0001939	Abnormality of metabolism/homeostasis	3953	LEPR	ORPHA:179494
HP:0001939	Abnormality of metabolism/homeostasis	55186	SLC25A36	OMIM:620211
HP:0001939	Abnormality of metabolism/homeostasis	3479	IGF1	ORPHA:73272
HP:0001939	Abnormality of metabolism/homeostasis	92482	BBIP1	ORPHA:110
HP:0001939	Abnormality of metabolism/homeostasis	80184	CEP290	ORPHA:110
HP:0001939	Abnormality of metabolism/homeostasis	11020	IFT27	ORPHA:110
HP:0001939	Abnormality of metabolism/homeostasis	51057	WDPCP	ORPHA:110
HP:0001939	Abnormality of metabolism/homeostasis	132320	SCLT1	ORPHA:110
HP:0001939	Abnormality of metabolism/homeostasis	27241	BBS9	ORPHA:110
HP:0001939	Abnormality of metabolism/homeostasis	84984	CEP19	ORPHA:110
HP:0001939	Abnormality of metabolism/homeostasis	84984	CEP19	OMIM:615703
HP:0001939	Abnormality of metabolism/homeostasis	22954	TRIM32	ORPHA:110
HP:0001939	Abnormality of metabolism/homeostasis	54903	MKS1	ORPHA:110
HP:0001939	Abnormality of metabolism/homeostasis	79738	BBS10	ORPHA:110
HP:0001939	Abnormality of metabolism/homeostasis	585	BBS4	ORPHA:110
HP:0001939	Abnormality of metabolism/homeostasis	8195	MKKS	ORPHA:110
HP:0001939	Abnormality of metabolism/homeostasis	54585	LZTFL1	ORPHA:110
HP:0001939	Abnormality of metabolism/homeostasis	55212	BBS7	ORPHA:110
HP:0001939	Abnormality of metabolism/homeostasis	166379	BBS12	ORPHA:110
HP:0001939	Abnormality of metabolism/homeostasis	10806	SDCCAG8	ORPHA:110
HP:0001939	Abnormality of metabolism/homeostasis	129880	BBS5	ORPHA:110
HP:0001939	Abnormality of metabolism/homeostasis	80173	IFT74	ORPHA:110
HP:0001939	Abnormality of metabolism/homeostasis	286053	NSMCE2	OMIM:617253
HP:0001939	Abnormality of metabolism/homeostasis	3991	LIPE	ORPHA:435660
HP:0001939	Abnormality of metabolism/homeostasis	3991	LIPE	OMIM:615980
HP:0001939	Abnormality of metabolism/homeostasis	3290	HSD11B1	OMIM:614662
HP:0001939	Abnormality of metabolism/homeostasis	7486	WRN	ORPHA:902
HP:0001939	Abnormality of metabolism/homeostasis	2887	GRB10	ORPHA:96182
HP:0001939	Abnormality of metabolism/homeostasis	221496	LEMD2	OMIM:619322
HP:0001939	Abnormality of metabolism/homeostasis	6934	TCF7L2	OMIM:125853
HP:0001939	Abnormality of metabolism/homeostasis	3990	LIPC	OMIM:125853
HP:0001939	Abnormality of metabolism/homeostasis	5506	PPP1R3A	OMIM:125853
HP:0001939	Abnormality of metabolism/homeostasis	169026	SLC30A8	OMIM:125853
HP:0001939	Abnormality of metabolism/homeostasis	2820	GPD2	OMIM:125853
HP:0001939	Abnormality of metabolism/homeostasis	5770	PTPN1	OMIM:125853
HP:0001939	Abnormality of metabolism/homeostasis	8660	IRS2	OMIM:125853
HP:0001939	Abnormality of metabolism/homeostasis	3159	HMGA1	OMIM:125853
HP:0001939	Abnormality of metabolism/homeostasis	3667	IRS1	OMIM:125853
HP:0001939	Abnormality of metabolism/homeostasis	9479	MAPK8IP1	OMIM:125853
HP:0001939	Abnormality of metabolism/homeostasis	208	AKT2	OMIM:125853
HP:0001939	Abnormality of metabolism/homeostasis	208	AKT2	ORPHA:79085
HP:0001939	Abnormality of metabolism/homeostasis	4544	MTNR1B	OMIM:125853
HP:0001939	Abnormality of metabolism/homeostasis	56729	RETN	OMIM:125853
HP:0001939	Abnormality of metabolism/homeostasis	7466	WFS1	OMIM:125853
HP:0001939	Abnormality of metabolism/homeostasis	10644	IGF2BP2	OMIM:125853
HP:0001939	Abnormality of metabolism/homeostasis	23187	PHLDB1	OMIM:620639
HP:0001939	Abnormality of metabolism/homeostasis	3483	IGFALS	ORPHA:140941
HP:0001939	Abnormality of metabolism/homeostasis	9927	MFN2	ORPHA:2398
HP:0001939	Abnormality of metabolism/homeostasis	79140	CCDC28B	OMIM:209900
HP:0001939	Abnormality of metabolism/homeostasis	83550	GPR101	ORPHA:963
HP:0001939	Abnormality of metabolism/homeostasis	5424	POLD1	OMIM:615381
HP:0001939	Abnormality of metabolism/homeostasis	1588	CYP19A1	ORPHA:91
HP:0001939	Abnormality of metabolism/homeostasis	10486	CAP2	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	7716	VEZF1	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	10060	ABCC9	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	7168	TPM1	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	27063	ANKRD1	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	1410	CRYAB	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	439	GET3	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	7273	TTN	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	5350	PLN	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	9529	BAG5	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	4607	MYBPC3	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	11155	LDB3	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	2274	FHL2	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	84665	MYPN	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	1674	DES	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	442721	LMOD2	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	8557	TCAP	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	57158	JPH2	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	9015	TAF1A	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	5663	PSEN1	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	7112	TMPO	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	9464	HAND2	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	4625	MYH7	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	88	ACTN2	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	7414	VCL	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	1832	DSP	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	1832	DSP	OMIM:605676
HP:0001939	Abnormality of metabolism/homeostasis	70	ACTC1	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	6123	RPL3L	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	8048	CSRP3	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	7139	TNNT2	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	1829	DSG2	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	3910	LAMA4	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	63976	PRDM16	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	9531	BAG3	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	91624	NEXN	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	79717	PPCS	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	4624	MYH6	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	282996	RBM20	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	7137	TNNI3	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	5894	RAF1	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	57798	GATAD1	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	7134	TNNC1	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	6444	SGCD	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	2218	FKTN	ORPHA:154
HP:0001939	Abnormality of metabolism/homeostasis	2235	FECH	OMIM:177000
HP:0001939	Abnormality of metabolism/homeostasis	2235	FECH	ORPHA:79278
HP:0001939	Abnormality of metabolism/homeostasis	5087	PBX1	ORPHA:97362
HP:0001939	Abnormality of metabolism/homeostasis	657	BMPR1A	ORPHA:329971
HP:0001939	Abnormality of metabolism/homeostasis	4089	SMAD4	ORPHA:329971
HP:0001939	Abnormality of metabolism/homeostasis	2022	ENG	ORPHA:329971
HP:0001939	Abnormality of metabolism/homeostasis	2186	BPTF	OMIM:148000
HP:0001939	Abnormality of metabolism/homeostasis	84320	ACBD6	OMIM:620785
HP:0001939	Abnormality of metabolism/homeostasis	79650	USB1	OMIM:604173
HP:0001939	Abnormality of metabolism/homeostasis	6888	TALDO1	ORPHA:101028
HP:0001939	Abnormality of metabolism/homeostasis	2050	EPHB4	OMIM:617300
HP:0001939	Abnormality of metabolism/homeostasis	84162	BLTP1	OMIM:617822
HP:0001939	Abnormality of metabolism/homeostasis	2733	GLE1	OMIM:253310
HP:0001939	Abnormality of metabolism/homeostasis	3849	KRT2	ORPHA:455
HP:0001939	Abnormality of metabolism/homeostasis	182	JAG1	OMIM:619574
HP:0001939	Abnormality of metabolism/homeostasis	3248	HPGD	ORPHA:2796
HP:0001939	Abnormality of metabolism/homeostasis	6578	SLCO2A1	ORPHA:2796
HP:0001939	Abnormality of metabolism/homeostasis	197131	UBR1	ORPHA:2315
HP:0001939	Abnormality of metabolism/homeostasis	3860	KRT13	OMIM:615785
HP:0001939	Abnormality of metabolism/homeostasis	51021	MRPS16	OMIM:610498
HP:0001939	Abnormality of metabolism/homeostasis	79053	ALG8	OMIM:608104
HP:0001939	Abnormality of metabolism/homeostasis	79053	ALG8	ORPHA:79325
HP:0001939	Abnormality of metabolism/homeostasis	55644	OSGEP	OMIM:617729
HP:0001939	Abnormality of metabolism/homeostasis	4758	NEU1	ORPHA:93400
HP:0001939	Abnormality of metabolism/homeostasis	5337	PLD1	OMIM:212093
HP:0001939	Abnormality of metabolism/homeostasis	1836	SLC26A2	OMIM:600972
HP:0001939	Abnormality of metabolism/homeostasis	8879	SGPL1	OMIM:617575
HP:0001939	Abnormality of metabolism/homeostasis	213	ALB	OMIM:616000
HP:0001939	Abnormality of metabolism/homeostasis	213	ALB	ORPHA:86816
HP:0001939	Abnormality of metabolism/homeostasis	51002	TPRKB	OMIM:617731
HP:0001939	Abnormality of metabolism/homeostasis	2776	GNAQ	ORPHA:624
HP:0001939	Abnormality of metabolism/homeostasis	3636	INPPL1	OMIM:258480
HP:0001939	Abnormality of metabolism/homeostasis	9326	ZNHIT3	OMIM:260565
HP:0001939	Abnormality of metabolism/homeostasis	3832	KIF11	ORPHA:2526
HP:0001939	Abnormality of metabolism/homeostasis	55704	CCDC88A	OMIM:617507
HP:0001939	Abnormality of metabolism/homeostasis	7841	MOGS	ORPHA:79330
HP:0001939	Abnormality of metabolism/homeostasis	540	ATP7B	OMIM:277900
HP:0001939	Abnormality of metabolism/homeostasis	2065	ERBB3	OMIM:607598
HP:0001939	Abnormality of metabolism/homeostasis	4846	NOS3	OMIM:189800
HP:0001939	Abnormality of metabolism/homeostasis	738	VPS51	OMIM:618606
HP:0001939	Abnormality of metabolism/homeostasis	1280	COL2A1	ORPHA:93296
HP:0001939	Abnormality of metabolism/homeostasis	1280	COL2A1	OMIM:200610
HP:0001939	Abnormality of metabolism/homeostasis	10682	EBP	OMIM:302960
HP:0001939	Abnormality of metabolism/homeostasis	1604	CD55	OMIM:226300
HP:0001939	Abnormality of metabolism/homeostasis	29968	PSAT1	OMIM:616038
HP:0001939	Abnormality of metabolism/homeostasis	57107	PDSS2	OMIM:614652
HP:0001939	Abnormality of metabolism/homeostasis	203068	TUBB	ORPHA:2505
HP:0001939	Abnormality of metabolism/homeostasis	10982	MAPRE2	ORPHA:2505
HP:0001939	Abnormality of metabolism/homeostasis	6935	ZEB1	ORPHA:98974
HP:0001939	Abnormality of metabolism/homeostasis	123624	AGBL1	ORPHA:98974
HP:0001939	Abnormality of metabolism/homeostasis	83959	SLC4A11	ORPHA:98974
HP:0001939	Abnormality of metabolism/homeostasis	1296	COL8A2	ORPHA:98974
HP:0001939	Abnormality of metabolism/homeostasis	64132	XYLT2	OMIM:605822
HP:0001939	Abnormality of metabolism/homeostasis	5784	PTPN14	OMIM:613611
HP:0001939	Abnormality of metabolism/homeostasis	118429	ANTXR2	ORPHA:2176
HP:0001939	Abnormality of metabolism/homeostasis	23169	SLC35D1	ORPHA:3144
HP:0001939	Abnormality of metabolism/homeostasis	998	CDC42	OMIM:616737
HP:0001939	Abnormality of metabolism/homeostasis	998	CDC42	ORPHA:487796
HP:0001939	Abnormality of metabolism/homeostasis	8260	NAA10	OMIM:300855
HP:0001939	Abnormality of metabolism/homeostasis	2078	ERG	OMIM:620602
HP:0001939	Abnormality of metabolism/homeostasis	57165	GJC2	OMIM:613480
HP:0001939	Abnormality of metabolism/homeostasis	57165	GJC2	ORPHA:79452
HP:0001939	Abnormality of metabolism/homeostasis	80208	SPG11	ORPHA:2822
HP:0001939	Abnormality of metabolism/homeostasis	374654	KIF7	OMIM:607131
HP:0001939	Abnormality of metabolism/homeostasis	54345	SOX18	OMIM:137940
HP:0001939	Abnormality of metabolism/homeostasis	79633	FAT4	OMIM:616006
HP:0001939	Abnormality of metabolism/homeostasis	79633	FAT4	ORPHA:2136
HP:0001939	Abnormality of metabolism/homeostasis	79633	FAT4	ORPHA:314679
HP:0001939	Abnormality of metabolism/homeostasis	9508	ADAMTS3	ORPHA:2136
HP:0001939	Abnormality of metabolism/homeostasis	9508	ADAMTS3	OMIM:618154
HP:0001939	Abnormality of metabolism/homeostasis	147372	CCBE1	ORPHA:2136
HP:0001939	Abnormality of metabolism/homeostasis	147372	CCBE1	OMIM:235510
HP:0001939	Abnormality of metabolism/homeostasis	5649	RELN	OMIM:257320
HP:0001939	Abnormality of metabolism/homeostasis	7075	TIE1	OMIM:619401
HP:0001939	Abnormality of metabolism/homeostasis	285	ANGPT2	OMIM:619369
HP:0001939	Abnormality of metabolism/homeostasis	285	ANGPT2	ORPHA:79452
HP:0001939	Abnormality of metabolism/homeostasis	5594	MAPK1	OMIM:619087
HP:0001939	Abnormality of metabolism/homeostasis	5921	RASA1	ORPHA:137667
HP:0001939	Abnormality of metabolism/homeostasis	8642	DCHS1	ORPHA:314679
HP:0001939	Abnormality of metabolism/homeostasis	2324	FLT4	ORPHA:79452
HP:0001939	Abnormality of metabolism/homeostasis	90	ACVR1	ORPHA:337
HP:0001939	Abnormality of metabolism/homeostasis	23554	TSPAN12	ORPHA:891
HP:0001939	Abnormality of metabolism/homeostasis	8322	FZD4	ORPHA:891
HP:0001939	Abnormality of metabolism/homeostasis	22800	RRAS2	ORPHA:648
HP:0001939	Abnormality of metabolism/homeostasis	8216	LZTR1	ORPHA:648
HP:0001939	Abnormality of metabolism/homeostasis	6016	RIT1	ORPHA:648
HP:0001939	Abnormality of metabolism/homeostasis	6237	RRAS	ORPHA:648
HP:0001939	Abnormality of metabolism/homeostasis	22808	MRAS	ORPHA:648
HP:0001939	Abnormality of metabolism/homeostasis	200734	SPRED2	ORPHA:648
HP:0001939	Abnormality of metabolism/homeostasis	6654	SOS1	ORPHA:648
HP:0001939	Abnormality of metabolism/homeostasis	6655	SOS2	ORPHA:648
HP:0001939	Abnormality of metabolism/homeostasis	5781	PTPN11	ORPHA:648
HP:0001939	Abnormality of metabolism/homeostasis	5781	PTPN11	OMIM:163950
HP:0001939	Abnormality of metabolism/homeostasis	5922	RASA2	ORPHA:648
HP:0001939	Abnormality of metabolism/homeostasis	55901	THSD1	OMIM:620244
HP:0001939	Abnormality of metabolism/homeostasis	29969	MDFIC	OMIM:620014
HP:0001939	Abnormality of metabolism/homeostasis	7424	VEGFC	OMIM:615907
HP:0001939	Abnormality of metabolism/homeostasis	6399	TRAPPC2	ORPHA:93284
HP:0001939	Abnormality of metabolism/homeostasis	2244	FGB	ORPHA:98880
HP:0001939	Abnormality of metabolism/homeostasis	2266	FGG	ORPHA:98880
HP:0001939	Abnormality of metabolism/homeostasis	1289	COL5A1	ORPHA:287
HP:0001939	Abnormality of metabolism/homeostasis	1290	COL5A2	ORPHA:287
HP:0001939	Abnormality of metabolism/homeostasis	4921	DDR2	OMIM:618175
HP:0001939	Abnormality of metabolism/homeostasis	2783	GNB2	OMIM:619503
HP:0001939	Abnormality of metabolism/homeostasis	220296	HEPACAM	ORPHA:210548
HP:0001939	Abnormality of metabolism/homeostasis	5590	PRKCZ	ORPHA:1606
HP:0001939	Abnormality of metabolism/homeostasis	2563	GABRD	ORPHA:1606
HP:0001939	Abnormality of metabolism/homeostasis	23013	SPEN	ORPHA:1606
HP:0001939	Abnormality of metabolism/homeostasis	8510	MMP23B	ORPHA:1606
HP:0001939	Abnormality of metabolism/homeostasis	7798	LUZP1	ORPHA:1606
HP:0001939	Abnormality of metabolism/homeostasis	6497	SKI	ORPHA:1606
HP:0001939	Abnormality of metabolism/homeostasis	10630	PDPN	ORPHA:1606
HP:0001939	Abnormality of metabolism/homeostasis	10277	UBE4B	ORPHA:1606
HP:0001939	Abnormality of metabolism/homeostasis	8514	KCNAB2	ORPHA:1606
HP:0001939	Abnormality of metabolism/homeostasis	473	RERE	ORPHA:1606
HP:0001939	Abnormality of metabolism/homeostasis	54897	CASZ1	ORPHA:1606
HP:0001939	Abnormality of metabolism/homeostasis	9757	KMT2B	OMIM:619934
HP:0001939	Abnormality of metabolism/homeostasis	27183	VPS4A	OMIM:619273
HP:0001939	Abnormality of metabolism/homeostasis	10112	KIF20A	OMIM:619433
HP:0001939	Abnormality of metabolism/homeostasis	4750	NEK1	OMIM:263520
HP:0001939	Abnormality of metabolism/homeostasis	57539	WDR35	OMIM:613610
HP:0001939	Abnormality of metabolism/homeostasis	57539	WDR35	ORPHA:93271
HP:0001939	Abnormality of metabolism/homeostasis	57539	WDR35	OMIM:614091
HP:0001939	Abnormality of metabolism/homeostasis	55112	DYNC2I1	ORPHA:93271
HP:0001939	Abnormality of metabolism/homeostasis	57560	IFT80	ORPHA:93271
HP:0001939	Abnormality of metabolism/homeostasis	79659	DYNC2H1	ORPHA:93271
HP:0001939	Abnormality of metabolism/homeostasis	89891	DYNC2I2	ORPHA:93271
HP:0001939	Abnormality of metabolism/homeostasis	91754	NEK9	OMIM:617022
HP:0001939	Abnormality of metabolism/homeostasis	202018	TAPT1	OMIM:616897
HP:0001939	Abnormality of metabolism/homeostasis	2122	MECOM	OMIM:616738
HP:0001939	Abnormality of metabolism/homeostasis	9321	TRIP11	OMIM:200600
HP:0001939	Abnormality of metabolism/homeostasis	9321	TRIP11	ORPHA:93299
HP:0001939	Abnormality of metabolism/homeostasis	9786	KIAA0586	OMIM:616546
HP:0001939	Abnormality of metabolism/homeostasis	10661	KLF1	OMIM:613673
HP:0001939	Abnormality of metabolism/homeostasis	7476	WNT7A	ORPHA:2879
HP:0001939	Abnormality of metabolism/homeostasis	2317	FLNB	ORPHA:1263
HP:0001939	Abnormality of metabolism/homeostasis	9896	FIG4	OMIM:216340
HP:0001939	Abnormality of metabolism/homeostasis	9896	FIG4	ORPHA:3472
HP:0001939	Abnormality of metabolism/homeostasis	55697	VAC14	ORPHA:3472
HP:0001939	Abnormality of metabolism/homeostasis	1301	COL11A1	OMIM:228520
HP:0001939	Abnormality of metabolism/homeostasis	4905	NSF	OMIM:619340
HP:0001939	Abnormality of metabolism/homeostasis	6007	RHD	OMIM:619462
HP:0001939	Abnormality of metabolism/homeostasis	4591	TRIM37	OMIM:253250
HP:0001939	Abnormality of metabolism/homeostasis	3039	HBA1	ORPHA:163596
HP:0001939	Abnormality of metabolism/homeostasis	3040	HBA2	ORPHA:163596
HP:0001939	Abnormality of metabolism/homeostasis	90952	ESAM	OMIM:620371
HP:0001939	Abnormality of metabolism/homeostasis	5530	PPP3CA	OMIM:618265
HP:0001939	Abnormality of metabolism/homeostasis	1278	COL1A2	OMIM:166210
HP:0001939	Abnormality of metabolism/homeostasis	57538	ALPK3	OMIM:618052
HP:0001939	Abnormality of metabolism/homeostasis	23426	GRIP1	OMIM:617667
HP:0001939	Abnormality of metabolism/homeostasis	5476	CTSA	OMIM:256540
HP:0001939	Abnormality of metabolism/homeostasis	4312	MMP1	ORPHA:79408
HP:0001939	Abnormality of metabolism/homeostasis	1294	COL7A1	ORPHA:79408
HP:0001939	Abnormality of metabolism/homeostasis	9056	SLC7A7	ORPHA:470
HP:0001939	Abnormality of metabolism/homeostasis	567	B2M	ORPHA:314652
HP:0001939	Abnormality of metabolism/homeostasis	2243	FGA	OMIM:105200
HP:0001939	Abnormality of metabolism/homeostasis	1374	CPT1A	ORPHA:156
HP:0001939	Abnormality of metabolism/homeostasis	7915	ALDH5A1	ORPHA:22
HP:0001939	Abnormality of metabolism/homeostasis	5199	CFP	OMIM:312060
HP:0001939	Abnormality of metabolism/homeostasis	7172	TPMT	OMIM:610460
HP:0001939	Abnormality of metabolism/homeostasis	4166	CHST6	ORPHA:98969
HP:0001939	Abnormality of metabolism/homeostasis	4166	CHST6	OMIM:217800
HP:0001939	Abnormality of metabolism/homeostasis	2316	FLNA	OMIM:314400
HP:0001939	Abnormality of metabolism/homeostasis	51	ACOX1	ORPHA:2971
HP:0001939	Abnormality of metabolism/homeostasis	10312	TCIRG1	ORPHA:667
HP:0001939	Abnormality of metabolism/homeostasis	1186	CLCN7	ORPHA:667
HP:0001939	Abnormality of metabolism/homeostasis	29887	SNX10	ORPHA:667
HP:0001939	Abnormality of metabolism/homeostasis	8600	TNFSF11	ORPHA:667
HP:0001939	Abnormality of metabolism/homeostasis	10	NAT2	OMIM:243400
HP:0001939	Abnormality of metabolism/homeostasis	3158	HMGCS2	ORPHA:35701
HP:0001939	Abnormality of metabolism/homeostasis	6716	SRD5A2	OMIM:264600
HP:0001939	Abnormality of metabolism/homeostasis	710	SERPING1	ORPHA:100050
HP:0001939	Abnormality of metabolism/homeostasis	3908	LAMA2	ORPHA:258
HP:0001939	Abnormality of metabolism/homeostasis	410	ARSA	ORPHA:309271
HP:0001939	Abnormality of metabolism/homeostasis	410	ARSA	ORPHA:309263
HP:0001939	Abnormality of metabolism/homeostasis	410	ARSA	ORPHA:309256
HP:0001939	Abnormality of metabolism/homeostasis	5660	PSAP	ORPHA:309271
HP:0001939	Abnormality of metabolism/homeostasis	5660	PSAP	ORPHA:309263
HP:0001939	Abnormality of metabolism/homeostasis	5660	PSAP	ORPHA:309256
HP:0001939	Abnormality of metabolism/homeostasis	114548	NLRP3	ORPHA:575
HP:0001939	Abnormality of metabolism/homeostasis	2688	GH1	OMIM:262650
HP:0001939	Abnormality of metabolism/homeostasis	29958	DMGDH	ORPHA:243343
HP:0001939	Abnormality of metabolism/homeostasis	84133	ZNRF3	ORPHA:1501
HP:0001939	Abnormality of metabolism/homeostasis	7157	TP53	ORPHA:1501
HP:0001939	Abnormality of metabolism/homeostasis	5573	PRKAR1A	ORPHA:1501
HP:0001939	Abnormality of metabolism/homeostasis	1499	CTNNB1	ORPHA:1501
HP:0001939	Abnormality of metabolism/homeostasis	1029	CDKN2A	ORPHA:1501
HP:0001939	Abnormality of metabolism/homeostasis	7015	TERT	ORPHA:1501
HP:0001939	Abnormality of metabolism/homeostasis	1565	CYP2D6	OMIM:608902
HP:0001939	Abnormality of metabolism/homeostasis	2512	FTL	ORPHA:163
HP:0001939	Abnormality of metabolism/homeostasis	7317	UBA1	OMIM:301830
HP:0001939	Abnormality of metabolism/homeostasis	3293	HSD17B3	OMIM:264300
HP:0001939	Abnormality of metabolism/homeostasis	175	AGA	OMIM:208400
HP:0001939	Abnormality of metabolism/homeostasis	189	AGXT	ORPHA:93598
HP:0001939	Abnormality of metabolism/homeostasis	405753	DUOXA2	OMIM:274900
HP:0001939	Abnormality of metabolism/homeostasis	26503	SLC17A5	OMIM:604369
HP:0001939	Abnormality of metabolism/homeostasis	11322	TMC6	OMIM:226400
HP:0001939	Abnormality of metabolism/homeostasis	11146	GLMN	OMIM:138000
HP:0001939	Abnormality of metabolism/homeostasis	5241	PGR	OMIM:264080
HP:0001939	Abnormality of metabolism/homeostasis	1482	NKX2-5	OMIM:217095
HP:0001939	Abnormality of metabolism/homeostasis	6899	TBX1	OMIM:217095
HP:0001939	Abnormality of metabolism/homeostasis	137814	NKX2-6	OMIM:217095
HP:0001939	Abnormality of metabolism/homeostasis	2627	GATA6	OMIM:217095
HP:0001939	Abnormality of metabolism/homeostasis	4353	MPO	OMIM:254600
HP:0001939	Abnormality of metabolism/homeostasis	5264	PHYH	ORPHA:773
HP:0001939	Abnormality of metabolism/homeostasis	5191	PEX7	ORPHA:773
HP:0001939	Abnormality of metabolism/homeostasis	55670	PEX26	ORPHA:44
HP:0001939	Abnormality of metabolism/homeostasis	5824	PEX19	ORPHA:44
HP:0001939	Abnormality of metabolism/homeostasis	5828	PEX2	ORPHA:44
HP:0001939	Abnormality of metabolism/homeostasis	8504	PEX3	ORPHA:44
HP:0001939	Abnormality of metabolism/homeostasis	9409	PEX16	ORPHA:44
HP:0001939	Abnormality of metabolism/homeostasis	5190	PEX6	ORPHA:44
HP:0001939	Abnormality of metabolism/homeostasis	8799	PEX11B	ORPHA:44
HP:0001939	Abnormality of metabolism/homeostasis	5830	PEX5	ORPHA:44
HP:0001939	Abnormality of metabolism/homeostasis	5189	PEX1	ORPHA:44
HP:0001939	Abnormality of metabolism/homeostasis	5193	PEX12	ORPHA:44
HP:0001939	Abnormality of metabolism/homeostasis	5194	PEX13	ORPHA:44
HP:0001939	Abnormality of metabolism/homeostasis	5195	PEX14	ORPHA:44
HP:0001939	Abnormality of metabolism/homeostasis	5192	PEX10	ORPHA:44
HP:0001939	Abnormality of metabolism/homeostasis	6513	SLC2A1	OMIM:606777
HP:0001939	Abnormality of metabolism/homeostasis	5538	PPT1	OMIM:256730
HP:0001939	Abnormality of metabolism/homeostasis	10020	GNE	ORPHA:3166
HP:0001939	Abnormality of metabolism/homeostasis	80324	PUS1	ORPHA:2598
HP:0001939	Abnormality of metabolism/homeostasis	51067	YARS2	ORPHA:2598
HP:0001939	Abnormality of metabolism/homeostasis	29893	PSMC3IP	ORPHA:243
HP:0001939	Abnormality of metabolism/homeostasis	171568	POLR3H	ORPHA:243
HP:0001939	Abnormality of metabolism/homeostasis	2516	NR5A1	ORPHA:243
HP:0001939	Abnormality of metabolism/homeostasis	125150	ZSWIM7	ORPHA:243
HP:0001939	Abnormality of metabolism/homeostasis	9210	BMP15	ORPHA:243
HP:0001939	Abnormality of metabolism/homeostasis	57122	NUP107	ORPHA:243
HP:0001939	Abnormality of metabolism/homeostasis	23514	SPIDR	ORPHA:243
HP:0001939	Abnormality of metabolism/homeostasis	2492	FSHR	ORPHA:243
HP:0001939	Abnormality of metabolism/homeostasis	56945	MRPS22	ORPHA:243
HP:0001939	Abnormality of metabolism/homeostasis	646	BNC1	ORPHA:243
HP:0001939	Abnormality of metabolism/homeostasis	4438	MSH4	ORPHA:243
HP:0001939	Abnormality of metabolism/homeostasis	3030	HADHA	ORPHA:5
HP:0001939	Abnormality of metabolism/homeostasis	4548	MTR	OMIM:601634
HP:0001939	Abnormality of metabolism/homeostasis	4524	MTHFR	OMIM:601634
HP:0001939	Abnormality of metabolism/homeostasis	4522	MTHFD1	OMIM:601634
HP:0001939	Abnormality of metabolism/homeostasis	4552	MTRR	OMIM:601634
HP:0001939	Abnormality of metabolism/homeostasis	65125	WNK1	OMIM:201300
HP:0001939	Abnormality of metabolism/homeostasis	54463	RETREG1	OMIM:201300
HP:0001939	Abnormality of metabolism/homeostasis	6335	SCN9A	OMIM:201300
HP:0001939	Abnormality of metabolism/homeostasis	547	KIF1A	OMIM:201300
HP:0001939	Abnormality of metabolism/homeostasis	57724	EPG5	OMIM:242840
HP:0001939	Abnormality of metabolism/homeostasis	4695	NDUFA2	OMIM:618235
HP:0001939	Abnormality of metabolism/homeostasis	27247	NFU1	OMIM:620938
HP:0001939	Abnormality of metabolism/homeostasis	29960	MRM2	OMIM:618567
HP:0001939	Abnormality of metabolism/homeostasis	2110	ETFDH	OMIM:231680
HP:0001939	Abnormality of metabolism/homeostasis	2108	ETFA	OMIM:231680
HP:0001939	Abnormality of metabolism/homeostasis	2109	ETFB	OMIM:231680
HP:0001939	Abnormality of metabolism/homeostasis	83483	PLVAP	OMIM:618183
HP:0001939	Abnormality of metabolism/homeostasis	25821	MTO1	OMIM:614702
HP:0001939	Abnormality of metabolism/homeostasis	2653	GCSH	OMIM:620423
HP:0001939	Abnormality of metabolism/homeostasis	6341	SCO1	OMIM:619048
HP:0001939	Abnormality of metabolism/homeostasis	3242	HPD	OMIM:140350
HP:0001939	Abnormality of metabolism/homeostasis	3242	HPD	ORPHA:2118
HP:0001939	Abnormality of metabolism/homeostasis	58528	RRAGD	OMIM:620152
HP:0001939	Abnormality of metabolism/homeostasis	8671	SLC4A4	OMIM:604278
HP:0001939	Abnormality of metabolism/homeostasis	57551	TAOK1	OMIM:619575
HP:0001939	Abnormality of metabolism/homeostasis	11212	PLPBP	OMIM:617290
HP:0001939	Abnormality of metabolism/homeostasis	7381	UQCRB	OMIM:615158
HP:0001939	Abnormality of metabolism/homeostasis	7385	UQCRC2	OMIM:615160
HP:0001939	Abnormality of metabolism/homeostasis	27068	PPA2	OMIM:617222
HP:0001939	Abnormality of metabolism/homeostasis	7284	TUFM	OMIM:610678
HP:0001939	Abnormality of metabolism/homeostasis	57505	AARS2	OMIM:614096
HP:0001939	Abnormality of metabolism/homeostasis	8452	CUL3	OMIM:614496
HP:0001939	Abnormality of metabolism/homeostasis	35	ACADS	ORPHA:26792
HP:0001939	Abnormality of metabolism/homeostasis	8942	KYNU	ORPHA:79155
HP:0001939	Abnormality of metabolism/homeostasis	1534	CYB561	OMIM:618182
HP:0001939	Abnormality of metabolism/homeostasis	3481	IGF2	ORPHA:231140
HP:0001939	Abnormality of metabolism/homeostasis	3481	IGF2	ORPHA:397590
HP:0001939	Abnormality of metabolism/homeostasis	5015	OTX2	OMIM:613986
HP:0001939	Abnormality of metabolism/homeostasis	5015	OTX2	ORPHA:95494
HP:0001939	Abnormality of metabolism/homeostasis	5528	PPP2R5D	OMIM:616355
HP:0001939	Abnormality of metabolism/homeostasis	5528	PPP2R5D	ORPHA:457279
HP:0001939	Abnormality of metabolism/homeostasis	23312	DMXL2	OMIM:616113
HP:0001939	Abnormality of metabolism/homeostasis	23312	DMXL2	ORPHA:453533
HP:0001939	Abnormality of metabolism/homeostasis	4953	ODC1	OMIM:619075
HP:0001939	Abnormality of metabolism/homeostasis	51594	NBAS	OMIM:616483
HP:0001939	Abnormality of metabolism/homeostasis	5447	POR	OMIM:201750
HP:0001939	Abnormality of metabolism/homeostasis	55699	IARS2	OMIM:616007
HP:0001939	Abnormality of metabolism/homeostasis	79753	SNIP1	OMIM:614501
HP:0001939	Abnormality of metabolism/homeostasis	5728	PTEN	ORPHA:109
HP:0001939	Abnormality of metabolism/homeostasis	10056	FARSB	OMIM:613658
HP:0001939	Abnormality of metabolism/homeostasis	128674	PROKR2	ORPHA:95496
HP:0001939	Abnormality of metabolism/homeostasis	55717	WDR11	ORPHA:95496
HP:0001939	Abnormality of metabolism/homeostasis	6091	ROBO1	ORPHA:95496
HP:0001939	Abnormality of metabolism/homeostasis	23432	GPR161	ORPHA:95496
HP:0001939	Abnormality of metabolism/homeostasis	3170	FOXA2	ORPHA:95494
HP:0001939	Abnormality of metabolism/homeostasis	5324	PLAG1	ORPHA:397590
HP:0001939	Abnormality of metabolism/homeostasis	471	ATIC	OMIM:608688
HP:0001939	Abnormality of metabolism/homeostasis	7030	TFE3	OMIM:301066
HP:0001939	Abnormality of metabolism/homeostasis	2239	GPC4	ORPHA:373
HP:0001939	Abnormality of metabolism/homeostasis	54941	RNF125	OMIM:616260
HP:0001939	Abnormality of metabolism/homeostasis	178	AGL	ORPHA:366
HP:0001939	Abnormality of metabolism/homeostasis	178	AGL	OMIM:232400
HP:0001939	Abnormality of metabolism/homeostasis	6658	SOX3	ORPHA:90695
HP:0001939	Abnormality of metabolism/homeostasis	2690	GHR	ORPHA:314802
HP:0001939	Abnormality of metabolism/homeostasis	2690	GHR	ORPHA:633
HP:0001939	Abnormality of metabolism/homeostasis	10525	HYOU1	OMIM:233600
HP:0001939	Abnormality of metabolism/homeostasis	2530	FUT8	OMIM:618005
HP:0001939	Abnormality of metabolism/homeostasis	7019	TFAM	OMIM:617156
HP:0001939	Abnormality of metabolism/homeostasis	9971	NR1H4	OMIM:617049
HP:0001939	Abnormality of metabolism/homeostasis	2475	MTOR	OMIM:616638
HP:0001939	Abnormality of metabolism/homeostasis	6811	STX5	OMIM:620454
HP:0001939	Abnormality of metabolism/homeostasis	9150	CTDP1	ORPHA:48431
HP:0001939	Abnormality of metabolism/homeostasis	80036	TRPM3	OMIM:620224
HP:0001939	Abnormality of metabolism/homeostasis	29926	GMPPA	ORPHA:869
HP:0001939	Abnormality of metabolism/homeostasis	60684	TRAPPC11	ORPHA:869
HP:0001939	Abnormality of metabolism/homeostasis	8086	AAAS	ORPHA:869
HP:0001939	Abnormality of metabolism/homeostasis	55252	ASXL2	OMIM:617190
HP:0001939	Abnormality of metabolism/homeostasis	4791	NFKB2	OMIM:615577
HP:0001939	Abnormality of metabolism/homeostasis	6809	STX3	ORPHA:2290
HP:0001939	Abnormality of metabolism/homeostasis	79827	CLMP	OMIM:615237
HP:0001939	Abnormality of metabolism/homeostasis	50674	NEUROG3	ORPHA:83620
HP:0001939	Abnormality of metabolism/homeostasis	50674	NEUROG3	OMIM:610370
HP:0001939	Abnormality of metabolism/homeostasis	79731	NARS2	ORPHA:79134
HP:0001939	Abnormality of metabolism/homeostasis	4072	EPCAM	ORPHA:92050
HP:0001939	Abnormality of metabolism/homeostasis	105371045	PERCC1	ORPHA:92050
HP:0001939	Abnormality of metabolism/homeostasis	2212	FCGR2A	OMIM:219700
HP:0001939	Abnormality of metabolism/homeostasis	3938	LCT	OMIM:223000
HP:0001939	Abnormality of metabolism/homeostasis	1956	EGFR	OMIM:616069
HP:0001939	Abnormality of metabolism/homeostasis	5095	PCCA	OMIM:606054
HP:0001939	Abnormality of metabolism/homeostasis	5096	PCCB	OMIM:606054
HP:0001939	Abnormality of metabolism/homeostasis	26276	VPS33B	OMIM:208085
HP:0001939	Abnormality of metabolism/homeostasis	1591	CYP24A1	OMIM:143880
HP:0001939	Abnormality of metabolism/homeostasis	151516	ASPRV1	ORPHA:313
HP:0001939	Abnormality of metabolism/homeostasis	242	ALOX12B	ORPHA:313
HP:0001939	Abnormality of metabolism/homeostasis	126410	CYP4F22	ORPHA:313
HP:0001939	Abnormality of metabolism/homeostasis	6820	SULT2B1	ORPHA:313
HP:0001939	Abnormality of metabolism/homeostasis	643418	LIPN	ORPHA:313
HP:0001939	Abnormality of metabolism/homeostasis	348938	NIPAL4	ORPHA:313
HP:0001939	Abnormality of metabolism/homeostasis	121214	SDR9C7	ORPHA:313
HP:0001939	Abnormality of metabolism/homeostasis	7051	TGM1	ORPHA:313
HP:0001939	Abnormality of metabolism/homeostasis	6507	SLC1A3	ORPHA:2131
HP:0001939	Abnormality of metabolism/homeostasis	478	ATP1A3	ORPHA:2131
HP:0001939	Abnormality of metabolism/homeostasis	4306	NR3C2	OMIM:177735
HP:0001939	Abnormality of metabolism/homeostasis	28957	MRPS28	OMIM:618958
HP:0001939	Abnormality of metabolism/homeostasis	1027	CDKN1B	ORPHA:652
HP:0001939	Abnormality of metabolism/homeostasis	1026	CDKN1A	ORPHA:652
HP:0001939	Abnormality of metabolism/homeostasis	1030	CDKN2B	ORPHA:652
HP:0001939	Abnormality of metabolism/homeostasis	1031	CDKN2C	ORPHA:652
HP:0001939	Abnormality of metabolism/homeostasis	50617	ATP6V0A4	OMIM:602722
HP:0001939	Abnormality of metabolism/homeostasis	27034	ACAD8	ORPHA:79159
HP:0001939	Abnormality of metabolism/homeostasis	11005	SPINK5	ORPHA:634
HP:0001939	Abnormality of metabolism/homeostasis	9881	TRANK1	ORPHA:33543
HP:0001939	Abnormality of metabolism/homeostasis	5314	PKHD1	ORPHA:53035
HP:0001939	Abnormality of metabolism/homeostasis	5604	MAP2K1	ORPHA:389
HP:0001939	Abnormality of metabolism/homeostasis	4893	NRAS	ORPHA:389
HP:0001939	Abnormality of metabolism/homeostasis	673	BRAF	ORPHA:389
HP:0001939	Abnormality of metabolism/homeostasis	4536	MT-ND2	ORPHA:255210
HP:0001939	Abnormality of metabolism/homeostasis	4537	MT-ND3	ORPHA:255210
HP:0001939	Abnormality of metabolism/homeostasis	4577	MT-TV	ORPHA:255210
HP:0001939	Abnormality of metabolism/homeostasis	4508	MT-ATP6	ORPHA:255210
HP:0001939	Abnormality of metabolism/homeostasis	4566	MT-TK	ORPHA:255210
HP:0001939	Abnormality of metabolism/homeostasis	939	CD27	OMIM:615122
HP:0001939	Abnormality of metabolism/homeostasis	84936	ZFYVE19	OMIM:619849
HP:0001939	Abnormality of metabolism/homeostasis	1991	ELANE	OMIM:162800
HP:0001939	Abnormality of metabolism/homeostasis	1991	ELANE	ORPHA:486
HP:0001939	Abnormality of metabolism/homeostasis	1536	CYBB	ORPHA:379
HP:0001939	Abnormality of metabolism/homeostasis	1536	CYBB	OMIM:306400
HP:0001939	Abnormality of metabolism/homeostasis	4688	NCF2	ORPHA:379
HP:0001939	Abnormality of metabolism/homeostasis	1535	CYBA	ORPHA:379
HP:0001939	Abnormality of metabolism/homeostasis	653361	NCF1	ORPHA:379
HP:0001939	Abnormality of metabolism/homeostasis	79415	CYBC1	ORPHA:379
HP:0001939	Abnormality of metabolism/homeostasis	79415	CYBC1	OMIM:618935
HP:0001939	Abnormality of metabolism/homeostasis	1896	EDA	OMIM:305100
HP:0001939	Abnormality of metabolism/homeostasis	6772	STAT1	OMIM:614162
HP:0001939	Abnormality of metabolism/homeostasis	1777	DNASE2	OMIM:619858
HP:0001939	Abnormality of metabolism/homeostasis	2035	EPB41	ORPHA:288
HP:0001939	Abnormality of metabolism/homeostasis	2995	GYPC	ORPHA:288
HP:0001939	Abnormality of metabolism/homeostasis	6710	SPTB	ORPHA:288
HP:0001939	Abnormality of metabolism/homeostasis	6710	SPTB	ORPHA:822
HP:0001939	Abnormality of metabolism/homeostasis	6708	SPTA1	ORPHA:288
HP:0001939	Abnormality of metabolism/homeostasis	6708	SPTA1	ORPHA:822
HP:0001939	Abnormality of metabolism/homeostasis	5373	PMM2	ORPHA:79318
HP:0001939	Abnormality of metabolism/homeostasis	811	CALR	ORPHA:131
HP:0001939	Abnormality of metabolism/homeostasis	811	CALR	ORPHA:824
HP:0001939	Abnormality of metabolism/homeostasis	811	CALR	OMIM:254450
HP:0001939	Abnormality of metabolism/homeostasis	3717	JAK2	ORPHA:131
HP:0001939	Abnormality of metabolism/homeostasis	3717	JAK2	ORPHA:824
HP:0001939	Abnormality of metabolism/homeostasis	3717	JAK2	OMIM:254450
HP:0001939	Abnormality of metabolism/homeostasis	1967	EIF2B1	OMIM:603896
HP:0001939	Abnormality of metabolism/homeostasis	6728	SRP19	ORPHA:486
HP:0001939	Abnormality of metabolism/homeostasis	2672	GFI1	ORPHA:486
HP:0001939	Abnormality of metabolism/homeostasis	81570	CLPB	ORPHA:486
HP:0001939	Abnormality of metabolism/homeostasis	6929	TCF3	ORPHA:33110
HP:0001939	Abnormality of metabolism/homeostasis	7922	SLC39A7	ORPHA:33110
HP:0001939	Abnormality of metabolism/homeostasis	973	CD79A	ORPHA:33110
HP:0001939	Abnormality of metabolism/homeostasis	974	CD79B	ORPHA:33110
HP:0001939	Abnormality of metabolism/homeostasis	6688	SPI1	ORPHA:33110
HP:0001939	Abnormality of metabolism/homeostasis	3543	IGLL1	ORPHA:33110
HP:0001939	Abnormality of metabolism/homeostasis	3507	IGHM	ORPHA:33110
HP:0001939	Abnormality of metabolism/homeostasis	29760	BLNK	ORPHA:33110
HP:0001939	Abnormality of metabolism/homeostasis	5295	PIK3R1	ORPHA:33110
HP:0001939	Abnormality of metabolism/homeostasis	56262	LRRC8A	ORPHA:33110
HP:0001939	Abnormality of metabolism/homeostasis	3659	IRF1	OMIM:620668
HP:0001939	Abnormality of metabolism/homeostasis	9256	TSPOAP1	ORPHA:101150
HP:0001939	Abnormality of metabolism/homeostasis	7054	TH	ORPHA:101150
HP:0001939	Abnormality of metabolism/homeostasis	596	BCL2	ORPHA:545
HP:0001939	Abnormality of metabolism/homeostasis	3492	IGH	ORPHA:545
HP:0001939	Abnormality of metabolism/homeostasis	3492	IGH	ORPHA:52416
HP:0001939	Abnormality of metabolism/homeostasis	3492	IGH	ORPHA:52417
HP:0001939	Abnormality of metabolism/homeostasis	604	BCL6	ORPHA:545
HP:0001939	Abnormality of metabolism/homeostasis	5925	RB1	ORPHA:668
HP:0001939	Abnormality of metabolism/homeostasis	11200	CHEK2	ORPHA:668
HP:0001939	Abnormality of metabolism/homeostasis	5978	REST	ORPHA:654
HP:0001939	Abnormality of metabolism/homeostasis	129563	DIS3L2	ORPHA:654
HP:0001939	Abnormality of metabolism/homeostasis	10155	TRIM28	ORPHA:654
HP:0001939	Abnormality of metabolism/homeostasis	11281	POU6F2	ORPHA:654
HP:0001939	Abnormality of metabolism/homeostasis	2719	GPC3	ORPHA:654
HP:0001939	Abnormality of metabolism/homeostasis	283120	H19	ORPHA:654
HP:0001939	Abnormality of metabolism/homeostasis	10588	MTHFS	OMIM:618367
HP:0001939	Abnormality of metabolism/homeostasis	3394	IRF8	OMIM:226990
HP:0001939	Abnormality of metabolism/homeostasis	3394	IRF8	OMIM:614893
HP:0001939	Abnormality of metabolism/homeostasis	3394	IRF8	ORPHA:319600
HP:0001939	Abnormality of metabolism/homeostasis	55975	KLHL7	OMIM:617055
HP:0001939	Abnormality of metabolism/homeostasis	55636	CHD7	ORPHA:39041
HP:0001939	Abnormality of metabolism/homeostasis	5896	RAG1	ORPHA:39041
HP:0001939	Abnormality of metabolism/homeostasis	5896	RAG1	ORPHA:331206
HP:0001939	Abnormality of metabolism/homeostasis	5897	RAG2	ORPHA:39041
HP:0001939	Abnormality of metabolism/homeostasis	5897	RAG2	ORPHA:331206
HP:0001939	Abnormality of metabolism/homeostasis	64421	DCLRE1C	ORPHA:39041
HP:0001939	Abnormality of metabolism/homeostasis	100	ADA	ORPHA:39041
HP:0001939	Abnormality of metabolism/homeostasis	3575	IL7R	ORPHA:39041
HP:0001939	Abnormality of metabolism/homeostasis	3575	IL7R	ORPHA:169154
HP:0001939	Abnormality of metabolism/homeostasis	3561	IL2RG	ORPHA:39041
HP:0001939	Abnormality of metabolism/homeostasis	374879	ZNF699	OMIM:619488
HP:0001939	Abnormality of metabolism/homeostasis	60468	BACH2	OMIM:618394
HP:0001939	Abnormality of metabolism/homeostasis	3988	LIPA	ORPHA:75233
HP:0001939	Abnormality of metabolism/homeostasis	3988	LIPA	OMIM:620151
HP:0001939	Abnormality of metabolism/homeostasis	2624	GATA2	ORPHA:228423
HP:0001939	Abnormality of metabolism/homeostasis	613	BCR	ORPHA:521
HP:0001939	Abnormality of metabolism/homeostasis	25	ABL1	ORPHA:521
HP:0001939	Abnormality of metabolism/homeostasis	861	RUNX1	ORPHA:521
HP:0001939	Abnormality of metabolism/homeostasis	7388	UQCRH	OMIM:620137
HP:0001939	Abnormality of metabolism/homeostasis	4352	MPL	ORPHA:824
HP:0001939	Abnormality of metabolism/homeostasis	4352	MPL	OMIM:254450
HP:0001939	Abnormality of metabolism/homeostasis	2038	EPB42	ORPHA:822
HP:0001939	Abnormality of metabolism/homeostasis	286	ANK1	ORPHA:822
HP:0001939	Abnormality of metabolism/homeostasis	23400	ATP13A2	ORPHA:306674
HP:0001939	Abnormality of metabolism/homeostasis	330	BIRC3	ORPHA:52417
HP:0001939	Abnormality of metabolism/homeostasis	10892	MALT1	ORPHA:52417
HP:0001939	Abnormality of metabolism/homeostasis	27086	FOXP1	ORPHA:52417
HP:0001939	Abnormality of metabolism/homeostasis	8915	BCL10	ORPHA:52417
HP:0001939	Abnormality of metabolism/homeostasis	6340	SCNN1G	ORPHA:60033
HP:0001939	Abnormality of metabolism/homeostasis	6338	SCNN1B	ORPHA:60033
HP:0001939	Abnormality of metabolism/homeostasis	4519	MT-CYB	ORPHA:137675
HP:0001939	Abnormality of metabolism/homeostasis	7454	WAS	ORPHA:906
HP:0001939	Abnormality of metabolism/homeostasis	7456	WIPF1	ORPHA:906
HP:0001939	Abnormality of metabolism/homeostasis	80704	SLC19A3	OMIM:607483
HP:0001939	Abnormality of metabolism/homeostasis	4665	NAB2	ORPHA:2126
HP:0001939	Abnormality of metabolism/homeostasis	6778	STAT6	ORPHA:2126
HP:0001939	Abnormality of metabolism/homeostasis	3662	IRF4	ORPHA:3452
HP:0001939	Abnormality of metabolism/homeostasis	11128	POLR3A	ORPHA:3455
HP:0001939	Abnormality of metabolism/homeostasis	695	BTK	ORPHA:47
HP:0001939	Abnormality of metabolism/homeostasis	667	DST	OMIM:614653
HP:0001939	Abnormality of metabolism/homeostasis	940	CD28	ORPHA:2584
HP:0001939	Abnormality of metabolism/homeostasis	7133	TNFRSF1B	ORPHA:2584
HP:0001939	Abnormality of metabolism/homeostasis	10878	CFHR3	OMIM:235400
HP:0001939	Abnormality of metabolism/homeostasis	3078	CFHR1	OMIM:235400
HP:0001939	Abnormality of metabolism/homeostasis	3932	LCK	OMIM:615758
HP:0001939	Abnormality of metabolism/homeostasis	3350	HTR1A	OMIM:614674
HP:0001939	Abnormality of metabolism/homeostasis	11093	ADAMTS13	OMIM:274150
HP:0001939	Abnormality of metabolism/homeostasis	915	CD3D	ORPHA:169160
HP:0001939	Abnormality of metabolism/homeostasis	916	CD3E	ORPHA:169160
HP:0001939	Abnormality of metabolism/homeostasis	10320	IKZF1	ORPHA:36426
HP:0001939	Abnormality of metabolism/homeostasis	5873	RAB27A	ORPHA:79477
HP:0001939	Abnormality of metabolism/homeostasis	5873	RAB27A	OMIM:607624
HP:0001939	Abnormality of metabolism/homeostasis	5167	ENPP1	ORPHA:51608
HP:0001939	Abnormality of metabolism/homeostasis	368	ABCC6	ORPHA:51608
HP:0001939	Abnormality of metabolism/homeostasis	10019	SH2B3	OMIM:254450
HP:0001939	Abnormality of metabolism/homeostasis	51135	IRAK4	ORPHA:70592
HP:0001939	Abnormality of metabolism/homeostasis	5788	PTPRC	OMIM:619924
HP:0001939	Abnormality of metabolism/homeostasis	1277	COL1A1	ORPHA:1310
HP:0001939	Abnormality of metabolism/homeostasis	1277	COL1A1	OMIM:114000
HP:0001939	Abnormality of metabolism/homeostasis	51081	MRPS7	OMIM:617872
HP:0001939	Abnormality of metabolism/homeostasis	551	AVP	ORPHA:30925
HP:0001939	Abnormality of metabolism/homeostasis	57410	SCYL1	ORPHA:466794
HP:0001939	Abnormality of metabolism/homeostasis	56172	ANKH	ORPHA:1416
HP:0001939	Abnormality of metabolism/homeostasis	291	SLC25A4	ORPHA:254892
HP:0001939	Abnormality of metabolism/homeostasis	5428	POLG	ORPHA:254892
HP:0001939	Abnormality of metabolism/homeostasis	56652	TWNK	ORPHA:254892
HP:0001939	Abnormality of metabolism/homeostasis	11232	POLG2	ORPHA:254892
HP:0001939	Abnormality of metabolism/homeostasis	50484	RRM2B	ORPHA:254892
HP:0001939	Abnormality of metabolism/homeostasis	10128	LRPPRC	OMIM:220111
HP:0001939	Abnormality of metabolism/homeostasis	34	ACADM	ORPHA:42
HP:0001939	Abnormality of metabolism/homeostasis	6524	SLC5A2	ORPHA:69076
HP:0001939	Abnormality of metabolism/homeostasis	2998	GYS2	OMIM:240600
HP:0001939	Abnormality of metabolism/homeostasis	2998	GYS2	ORPHA:2089
HP:0001939	Abnormality of metabolism/homeostasis	2203	FBP1	OMIM:229700
HP:0001939	Abnormality of metabolism/homeostasis	2203	FBP1	ORPHA:348
HP:0001939	Abnormality of metabolism/homeostasis	57128	LYRM4	OMIM:615595
HP:0001939	Abnormality of metabolism/homeostasis	593	BCKDHA	OMIM:248600
HP:0001939	Abnormality of metabolism/homeostasis	51728	POLR3K	OMIM:619310
HP:0001939	Abnormality of metabolism/homeostasis	51099	ABHD5	ORPHA:98907
HP:0001939	Abnormality of metabolism/homeostasis	23417	MLYCD	OMIM:248360
HP:0001939	Abnormality of metabolism/homeostasis	5836	PYGL	ORPHA:369
HP:0001939	Abnormality of metabolism/homeostasis	2542	SLC37A4	OMIM:232240
HP:0001939	Abnormality of metabolism/homeostasis	2639	GCDH	OMIM:231670
HP:0001939	Abnormality of metabolism/homeostasis	166785	MMAA	OMIM:251100
HP:0001939	Abnormality of metabolism/homeostasis	3735	KARS1	OMIM:619147
HP:0001939	Abnormality of metabolism/homeostasis	5256	PHKA2	ORPHA:264580
HP:0001939	Abnormality of metabolism/homeostasis	5256	PHKA2	OMIM:306000
HP:0001939	Abnormality of metabolism/homeostasis	5261	PHKG2	ORPHA:264580
HP:0001939	Abnormality of metabolism/homeostasis	5261	PHKG2	OMIM:613027
HP:0001939	Abnormality of metabolism/homeostasis	2693	GHSR	ORPHA:314811
HP:0001939	Abnormality of metabolism/homeostasis	93587	TRMT10A	ORPHA:391408
HP:0001939	Abnormality of metabolism/homeostasis	84919	PPP1R15B	ORPHA:391408
HP:0001939	Abnormality of metabolism/homeostasis	326625	MMAB	OMIM:251110
HP:0001939	Abnormality of metabolism/homeostasis	6584	SLC22A5	OMIM:212140
HP:0001939	Abnormality of metabolism/homeostasis	525	ATP6V1B1	OMIM:267300
HP:0001939	Abnormality of metabolism/homeostasis	9049	AIP	OMIM:219090
HP:0001939	Abnormality of metabolism/homeostasis	9101	USP8	OMIM:219090
HP:0001939	Abnormality of metabolism/homeostasis	162417	NAGS	OMIM:237310
HP:0001939	Abnormality of metabolism/homeostasis	1586	CYP17A1	OMIM:202110
HP:0001939	Abnormality of metabolism/homeostasis	64324	NSD1	OMIM:117550
HP:0001939	Abnormality of metabolism/homeostasis	116519	APOA5	OMIM:145750
HP:0001939	Abnormality of metabolism/homeostasis	4040	LRP6	OMIM:610947
HP:0001939	Abnormality of metabolism/homeostasis	212	ALAS2	ORPHA:75563
HP:0001939	Abnormality of metabolism/homeostasis	26137	ZBTB20	OMIM:259050
HP:0001939	Abnormality of metabolism/homeostasis	10651	MTX2	OMIM:619127
HP:0001939	Abnormality of metabolism/homeostasis	79798	ARMC5	ORPHA:189427
HP:0001939	Abnormality of metabolism/homeostasis	23028	KDM1A	ORPHA:189427
HP:0001939	Abnormality of metabolism/homeostasis	57570	TRMT5	OMIM:616539
HP:0001939	Abnormality of metabolism/homeostasis	5080	PAX6	OMIM:106210
HP:0001939	Abnormality of metabolism/homeostasis	8462	KLF11	ORPHA:552
HP:0001939	Abnormality of metabolism/homeostasis	2645	GCK	ORPHA:552
HP:0001939	Abnormality of metabolism/homeostasis	26060	APPL1	ORPHA:552
HP:0001939	Abnormality of metabolism/homeostasis	640	BLK	ORPHA:552
HP:0001939	Abnormality of metabolism/homeostasis	1056	CEL	ORPHA:552
HP:0001939	Abnormality of metabolism/homeostasis	4760	NEUROD1	ORPHA:552
HP:0001939	Abnormality of metabolism/homeostasis	3651	PDX1	ORPHA:552
HP:0001939	Abnormality of metabolism/homeostasis	6833	ABCC8	ORPHA:552
HP:0001939	Abnormality of metabolism/homeostasis	6833	ABCC8	ORPHA:99886
HP:0001939	Abnormality of metabolism/homeostasis	3172	HNF4A	ORPHA:552
HP:0001939	Abnormality of metabolism/homeostasis	3630	INS	ORPHA:552
HP:0001939	Abnormality of metabolism/homeostasis	3630	INS	OMIM:618858
HP:0001939	Abnormality of metabolism/homeostasis	3630	INS	OMIM:613370
HP:0001939	Abnormality of metabolism/homeostasis	3643	INSR	OMIM:262190
HP:0001939	Abnormality of metabolism/homeostasis	3643	INSR	ORPHA:769
HP:0001939	Abnormality of metabolism/homeostasis	63924	CIDEC	OMIM:615238
HP:0001939	Abnormality of metabolism/homeostasis	1188	CLCNKB	ORPHA:358
HP:0001939	Abnormality of metabolism/homeostasis	6559	SLC12A3	ORPHA:358
HP:0001939	Abnormality of metabolism/homeostasis	346171	ZFP57	ORPHA:99886
HP:0001939	Abnormality of metabolism/homeostasis	57061	HYMAI	ORPHA:99886
HP:0001939	Abnormality of metabolism/homeostasis	5325	PLAGL1	ORPHA:99886
HP:0001939	Abnormality of metabolism/homeostasis	8367	H4C5	OMIM:619950
HP:0001939	Abnormality of metabolism/homeostasis	85446	ZFHX2	OMIM:147430
HP:0001939	Abnormality of metabolism/homeostasis	4803	NGF	OMIM:608654
HP:0001939	Abnormality of metabolism/homeostasis	9948	WDR1	OMIM:150550
HP:0001939	Abnormality of metabolism/homeostasis	868	CBLB	OMIM:620430
HP:0001939	Abnormality of metabolism/homeostasis	10134	BCAP31	ORPHA:369939
HP:0001939	Abnormality of metabolism/homeostasis	254428	SLC41A1	OMIM:619468
HP:0001939	Abnormality of metabolism/homeostasis	91039	DPP9	OMIM:620331
HP:0001939	Abnormality of metabolism/homeostasis	80216	ALPK1	OMIM:614979
HP:0001939	Abnormality of metabolism/homeostasis	970	CD70	OMIM:618261
HP:0001939	Abnormality of metabolism/homeostasis	1053	CEBPE	OMIM:260570
HP:0001939	Abnormality of metabolism/homeostasis	6789	STK4	OMIM:614868
HP:0001939	Abnormality of metabolism/homeostasis	91949	COG7	ORPHA:79333
HP:0001939	Abnormality of metabolism/homeostasis	506	ATP5F1B	OMIM:620085
HP:0001939	Abnormality of metabolism/homeostasis	8737	RIPK1	OMIM:618852
HP:0001939	Abnormality of metabolism/homeostasis	28985	MCTS1	OMIM:301115
HP:0001939	Abnormality of metabolism/homeostasis	341208	HEPHL1	OMIM:261990
HP:0001939	Abnormality of metabolism/homeostasis	1794	DOCK2	OMIM:616433
HP:0001939	Abnormality of metabolism/homeostasis	55858	TMEM165	OMIM:614727
HP:0001939	Abnormality of metabolism/homeostasis	54675	CRLS1	OMIM:620167
HP:0001939	Abnormality of metabolism/homeostasis	26281	FGF20	ORPHA:1848
HP:0001939	Abnormality of metabolism/homeostasis	2674	GFRA1	ORPHA:1848
HP:0001939	Abnormality of metabolism/homeostasis	7484	WNT9B	ORPHA:1848
HP:0001939	Abnormality of metabolism/homeostasis	80000	GREB1L	ORPHA:1848
HP:0001939	Abnormality of metabolism/homeostasis	2752	GLUL	OMIM:610015
HP:0001939	Abnormality of metabolism/homeostasis	5058	PAK1	OMIM:618158
HP:0001939	Abnormality of metabolism/homeostasis	55343	SLC35C1	OMIM:266265
HP:0001939	Abnormality of metabolism/homeostasis	22	ABCB7	OMIM:301310
HP:0001939	Abnormality of metabolism/homeostasis	22	ABCB7	ORPHA:2802
HP:0001939	Abnormality of metabolism/homeostasis	283209	PGM2L1	OMIM:620191
HP:0001939	Abnormality of metabolism/homeostasis	5442	POLRMT	OMIM:619743
HP:0001939	Abnormality of metabolism/homeostasis	51660	MPC1	OMIM:614741
HP:0001939	Abnormality of metabolism/homeostasis	80308	FLAD1	OMIM:255100
HP:0001939	Abnormality of metabolism/homeostasis	3141	HLCS	OMIM:253270
HP:0001939	Abnormality of metabolism/homeostasis	3141	HLCS	ORPHA:79242
HP:0001939	Abnormality of metabolism/homeostasis	79581	SLC52A2	OMIM:614707
HP:0001939	Abnormality of metabolism/homeostasis	38	ACAT1	ORPHA:134
HP:0001939	Abnormality of metabolism/homeostasis	79783	SUGCT	ORPHA:35706
HP:0001939	Abnormality of metabolism/homeostasis	3712	IVD	OMIM:243500
HP:0001939	Abnormality of metabolism/homeostasis	197322	ACSF3	ORPHA:289504
HP:0001939	Abnormality of metabolism/homeostasis	197322	ACSF3	OMIM:614265
HP:0001939	Abnormality of metabolism/homeostasis	1738	DLD	OMIM:246900
HP:0001939	Abnormality of metabolism/homeostasis	26191	PTPN22	OMIM:222100
HP:0001939	Abnormality of metabolism/homeostasis	3710	ITPR3	OMIM:222100
HP:0001939	Abnormality of metabolism/homeostasis	3569	IL6	OMIM:222100
HP:0001939	Abnormality of metabolism/homeostasis	6927	HNF1A	OMIM:222100
HP:0001939	Abnormality of metabolism/homeostasis	6566	SLC16A1	OMIM:616095
HP:0001939	Abnormality of metabolism/homeostasis	1537	CYC1	OMIM:615453
HP:0001939	Abnormality of metabolism/homeostasis	513	ATP5F1D	OMIM:618120
HP:0001939	Abnormality of metabolism/homeostasis	11222	MRPL3	OMIM:614582
HP:0001939	Abnormality of metabolism/homeostasis	763	CA5A	OMIM:615751
HP:0001939	Abnormality of metabolism/homeostasis	5078	PAX4	OMIM:612227
HP:0001939	Abnormality of metabolism/homeostasis	3767	KCNJ11	OMIM:618856
HP:0001939	Abnormality of metabolism/homeostasis	1629	DBT	OMIM:620699
HP:0001939	Abnormality of metabolism/homeostasis	64087	MCCC2	OMIM:210210
HP:0001939	Abnormality of metabolism/homeostasis	2710	GK	OMIM:307030
HP:0001939	Abnormality of metabolism/homeostasis	9451	EIF2AK3	ORPHA:1667
HP:0001939	Abnormality of metabolism/homeostasis	9095	TBX19	ORPHA:199296
HP:0001939	Abnormality of metabolism/homeostasis	8925	HERC1	ORPHA:457359
HP:0001939	Abnormality of metabolism/homeostasis	3784	KCNQ1	OMIM:130650
HP:0001939	Abnormality of metabolism/homeostasis	10984	KCNQ1OT1	OMIM:130650
HP:0001939	Abnormality of metabolism/homeostasis	10943	MSL3	OMIM:301032
HP:0001939	Abnormality of metabolism/homeostasis	23152	CIC	OMIM:617600
HP:0001939	Abnormality of metabolism/homeostasis	25885	POLR1A	OMIM:620675
HP:0001939	Abnormality of metabolism/homeostasis	538	ATP7A	ORPHA:198
HP:0001939	Abnormality of metabolism/homeostasis	538	ATP7A	OMIM:309400
HP:0001939	Abnormality of metabolism/homeostasis	538	ATP7A	ORPHA:565
HP:0001939	Abnormality of metabolism/homeostasis	1621	DBH	ORPHA:230
HP:0001939	Abnormality of metabolism/homeostasis	5626	PROP1	ORPHA:226307
HP:0001939	Abnormality of metabolism/homeostasis	89884	LHX4	ORPHA:226307
HP:0001939	Abnormality of metabolism/homeostasis	8022	LHX3	ORPHA:226307
HP:0001939	Abnormality of metabolism/homeostasis	5449	POU1F1	ORPHA:226307
HP:0001939	Abnormality of metabolism/homeostasis	8820	HESX1	ORPHA:226307
HP:0001939	Abnormality of metabolism/homeostasis	5009	OTC	ORPHA:664
HP:0001939	Abnormality of metabolism/homeostasis	7849	PAX8	OMIM:218700
HP:0001939	Abnormality of metabolism/homeostasis	7259	TSPYL1	OMIM:608800
HP:0001939	Abnormality of metabolism/homeostasis	7259	TSPYL1	ORPHA:168593
HP:0001939	Abnormality of metabolism/homeostasis	50506	DUOX2	ORPHA:226316
HP:0001939	Abnormality of metabolism/homeostasis	50506	DUOX2	ORPHA:95716
HP:0001939	Abnormality of metabolism/homeostasis	2555	GABRA2	OMIM:618557
HP:0001939	Abnormality of metabolism/homeostasis	7253	TSHR	ORPHA:90673
HP:0001939	Abnormality of metabolism/homeostasis	7252	TSHB	ORPHA:90674
HP:0001939	Abnormality of metabolism/homeostasis	775	CACNA1C	OMIM:601005
HP:0001939	Abnormality of metabolism/homeostasis	11280	SCN11A	ORPHA:90026
HP:0001939	Abnormality of metabolism/homeostasis	6336	SCN10A	ORPHA:90026
HP:0001939	Abnormality of metabolism/homeostasis	125988	MICOS13	OMIM:618329
HP:0001939	Abnormality of metabolism/homeostasis	388753	COA6	OMIM:616501
HP:0001939	Abnormality of metabolism/homeostasis	6528	SLC5A5	ORPHA:95716
HP:0001939	Abnormality of metabolism/homeostasis	7038	TG	ORPHA:95716
HP:0001939	Abnormality of metabolism/homeostasis	7173	TPO	ORPHA:95716
HP:0001939	Abnormality of metabolism/homeostasis	389434	IYD	ORPHA:95716
HP:0001939	Abnormality of metabolism/homeostasis	36	ACADSB	OMIM:610006
HP:0001939	Abnormality of metabolism/homeostasis	1716	DGUOK	OMIM:251880
HP:0001939	Abnormality of metabolism/homeostasis	37	ACADVL	ORPHA:26793
HP:0001939	Abnormality of metabolism/homeostasis	4914	NTRK1	ORPHA:642
HP:0001939	Abnormality of metabolism/homeostasis	7386	UQCRFS1	OMIM:618775
HP:0001939	Abnormality of metabolism/homeostasis	57017	COQ9	OMIM:614654
HP:0001939	Abnormality of metabolism/homeostasis	55065	SLC52A1	OMIM:615026
HP:0001939	Abnormality of metabolism/homeostasis	221927	BRAT1	OMIM:614498
HP:0001939	Abnormality of metabolism/homeostasis	93627	TBCK	ORPHA:488632
HP:0001939	Abnormality of metabolism/homeostasis	78987	CRELD1	OMIM:620771
HP:0001939	Abnormality of metabolism/homeostasis	788	SLC25A20	ORPHA:159
HP:0001939	Abnormality of metabolism/homeostasis	7337	UBE3A	ORPHA:98794
HP:0001939	Abnormality of metabolism/homeostasis	7337	UBE3A	ORPHA:98795
HP:0001939	Abnormality of metabolism/homeostasis	7337	UBE3A	ORPHA:411511
HP:0001939	Abnormality of metabolism/homeostasis	4948	OCA2	ORPHA:98794
HP:0001939	Abnormality of metabolism/homeostasis	9071	CLDN10	OMIM:617671
HP:0001939	Abnormality of metabolism/homeostasis	84876	ORAI1	OMIM:612782
HP:0001939	Abnormality of metabolism/homeostasis	81607	NECTIN4	OMIM:613573
HP:0001939	Abnormality of metabolism/homeostasis	85358	SHANK3	OMIM:606232
HP:0001939	Abnormality of metabolism/homeostasis	56983	POGLUT1	ORPHA:79145
HP:0001939	Abnormality of metabolism/homeostasis	3852	KRT5	ORPHA:79145
HP:0001939	Abnormality of metabolism/homeostasis	3852	KRT5	ORPHA:79400
HP:0001939	Abnormality of metabolism/homeostasis	23509	POFUT1	ORPHA:79145
HP:0001939	Abnormality of metabolism/homeostasis	55851	PSENEN	ORPHA:79145
HP:0001939	Abnormality of metabolism/homeostasis	3861	KRT14	ORPHA:79400
HP:0001939	Abnormality of metabolism/homeostasis	3861	KRT14	OMIM:161000
HP:0001939	Abnormality of metabolism/homeostasis	3861	KRT14	ORPHA:69087
HP:0001939	Abnormality of metabolism/homeostasis	3190	HNRNPK	ORPHA:352665
HP:0001939	Abnormality of metabolism/homeostasis	3190	HNRNPK	ORPHA:453504
HP:0001939	Abnormality of metabolism/homeostasis	9203	ZMYM3	OMIM:301111
HP:0001939	Abnormality of metabolism/homeostasis	128178	EDARADD	OMIM:129490
HP:0001939	Abnormality of metabolism/homeostasis	128178	EDARADD	OMIM:224900
HP:0001939	Abnormality of metabolism/homeostasis	10913	EDAR	OMIM:129490
HP:0001939	Abnormality of metabolism/homeostasis	10913	EDAR	OMIM:224900
HP:0001939	Abnormality of metabolism/homeostasis	3709	ITPR2	OMIM:106190
HP:0001939	Abnormality of metabolism/homeostasis	59344	ALOXE3	OMIM:606545
HP:0001939	Abnormality of metabolism/homeostasis	5605	MAP2K2	OMIM:615280
HP:0001939	Abnormality of metabolism/homeostasis	10660	LBX1	OMIM:619483
HP:0001939	Abnormality of metabolism/homeostasis	4792	NFKBIA	OMIM:612132
HP:0001939	Abnormality of metabolism/homeostasis	55361	PI4K2A	OMIM:620732
HP:0001939	Abnormality of metabolism/homeostasis	487	ATP2A1	OMIM:601003
HP:0001939	Abnormality of metabolism/homeostasis	4621	MYH3	ORPHA:2053
HP:0001939	Abnormality of metabolism/homeostasis	4621	MYH3	OMIM:193700
HP:0001939	Abnormality of metabolism/homeostasis	259232	NALCN	ORPHA:2053
HP:0001939	Abnormality of metabolism/homeostasis	8518	ELP1	ORPHA:1764
HP:0001939	Abnormality of metabolism/homeostasis	5236	PGM1	OMIM:614921
HP:0001939	Abnormality of metabolism/homeostasis	3339	HSPG2	OMIM:255800
HP:0001939	Abnormality of metabolism/homeostasis	3339	HSPG2	ORPHA:800
HP:0001939	Abnormality of metabolism/homeostasis	6331	SCN5A	OMIM:272120
HP:0001939	Abnormality of metabolism/homeostasis	246329	STAC3	ORPHA:168572
HP:0001939	Abnormality of metabolism/homeostasis	246329	STAC3	OMIM:255995
HP:0001939	Abnormality of metabolism/homeostasis	274	BIN1	ORPHA:169189
HP:0001939	Abnormality of metabolism/homeostasis	64419	MTMR14	ORPHA:169189
HP:0001939	Abnormality of metabolism/homeostasis	4618	MYF6	ORPHA:169189
HP:0001939	Abnormality of metabolism/homeostasis	1785	DNM2	ORPHA:169189
HP:0001939	Abnormality of metabolism/homeostasis	23529	CLCF1	ORPHA:1545
HP:0001939	Abnormality of metabolism/homeostasis	9244	CRLF1	ORPHA:1545
HP:0001939	Abnormality of metabolism/homeostasis	6329	SCN4A	ORPHA:682
HP:0001939	Abnormality of metabolism/homeostasis	83696	TRAPPC9	ORPHA:352530
HP:0001939	Abnormality of metabolism/homeostasis	1134	CHRNA1	OMIM:253290
HP:0001939	Abnormality of metabolism/homeostasis	1146	CHRNG	OMIM:253290
HP:0001939	Abnormality of metabolism/homeostasis	1144	CHRND	OMIM:253290
HP:0001939	Abnormality of metabolism/homeostasis	26154	ABCA12	ORPHA:457
HP:0001939	Abnormality of metabolism/homeostasis	7189	TRAF6	ORPHA:1810
HP:0001939	Abnormality of metabolism/homeostasis	126695	KDF1	ORPHA:1810
HP:0001939	Abnormality of metabolism/homeostasis	56975	FAM20C	OMIM:259775
HP:0001939	Abnormality of metabolism/homeostasis	9949	AMMECR1	OMIM:300990
HP:0001939	Abnormality of metabolism/homeostasis	51604	PIGT	OMIM:615398
HP:0001939	Abnormality of metabolism/homeostasis	51604	PIGT	ORPHA:369837
HP:0001939	Abnormality of metabolism/homeostasis	10916	MAGED2	OMIM:300971
HP:0001939	Abnormality of metabolism/homeostasis	5745	PTH1R	OMIM:156400
HP:0001939	Abnormality of metabolism/homeostasis	8074	FGF23	OMIM:617993
HP:0001939	Abnormality of metabolism/homeostasis	3762	KCNJ5	OMIM:613677
HP:0001939	Abnormality of metabolism/homeostasis	3762	KCNJ5	ORPHA:251274
HP:0001939	Abnormality of metabolism/homeostasis	1028	CDKN1C	OMIM:614732
HP:0001939	Abnormality of metabolism/homeostasis	80222	TARS2	OMIM:615918
HP:0001939	Abnormality of metabolism/homeostasis	5917	RARS1	ORPHA:438114
HP:0001939	Abnormality of metabolism/homeostasis	387787	LIPT2	OMIM:617668
HP:0001939	Abnormality of metabolism/homeostasis	1841	DTYMK	OMIM:619847
HP:0001939	Abnormality of metabolism/homeostasis	10730	YME1L1	OMIM:617302
HP:0001939	Abnormality of metabolism/homeostasis	271	AMPD2	OMIM:615809
HP:0001939	Abnormality of metabolism/homeostasis	4718	NDUFC2	OMIM:619170
HP:0001939	Abnormality of metabolism/homeostasis	1339	COX6A2	OMIM:619062
HP:0001939	Abnormality of metabolism/homeostasis	9377	COX5A	OMIM:619064
HP:0001939	Abnormality of metabolism/homeostasis	4565	MT-TI	OMIM:545000
HP:0001939	Abnormality of metabolism/homeostasis	4571	MT-TP	OMIM:545000
HP:0001939	Abnormality of metabolism/homeostasis	39	ACAT2	OMIM:614055
HP:0001939	Abnormality of metabolism/homeostasis	64121	RRAGC	OMIM:620609
HP:0001939	Abnormality of metabolism/homeostasis	246243	RNASEH1	OMIM:616479
HP:0001939	Abnormality of metabolism/homeostasis	284439	SLC25A42	OMIM:618416
HP:0001939	Abnormality of metabolism/homeostasis	5091	PC	OMIM:266150
HP:0001939	Abnormality of metabolism/homeostasis	65080	MRPL44	OMIM:615395
HP:0001939	Abnormality of metabolism/homeostasis	27089	UQCRQ	OMIM:615159
HP:0001939	Abnormality of metabolism/homeostasis	4285	MIPEP	OMIM:617228
HP:0001939	Abnormality of metabolism/homeostasis	10531	PITRM1	OMIM:619405
HP:0001939	Abnormality of metabolism/homeostasis	270	AMPD1	ORPHA:45
HP:0001939	Abnormality of metabolism/homeostasis	272	AMPD3	ORPHA:45
HP:0001939	Abnormality of metabolism/homeostasis	55739	NAXD	OMIM:618321
HP:0001939	Abnormality of metabolism/homeostasis	8565	YARS1	OMIM:619418
HP:0001939	Abnormality of metabolism/homeostasis	1384	CRAT	OMIM:617917
HP:0001939	Abnormality of metabolism/homeostasis	91574	MTRFR	OMIM:613559
HP:0001939	Abnormality of metabolism/homeostasis	3329	HSPD1	OMIM:612233
HP:0001939	Abnormality of metabolism/homeostasis	6647	SOD1	OMIM:618598
HP:0001939	Abnormality of metabolism/homeostasis	79587	CARS2	ORPHA:477774
HP:0001939	Abnormality of metabolism/homeostasis	79587	CARS2	OMIM:616672
HP:0001939	Abnormality of metabolism/homeostasis	8867	SYNJ1	OMIM:617389
HP:0001939	Abnormality of metabolism/homeostasis	8492	PRSS12	OMIM:249500
HP:0001939	Abnormality of metabolism/homeostasis	9512	PMPCB	OMIM:617954
HP:0001939	Abnormality of metabolism/homeostasis	51079	NDUFA13	OMIM:618249
HP:0001939	Abnormality of metabolism/homeostasis	708	C1QBP	OMIM:617713
HP:0001939	Abnormality of metabolism/homeostasis	8604	SLC25A12	OMIM:612949
HP:0001939	Abnormality of metabolism/homeostasis	84705	GTPBP3	OMIM:616198
HP:0001939	Abnormality of metabolism/homeostasis	81689	ISCA1	OMIM:617613
HP:0001939	Abnormality of metabolism/homeostasis	6182	MRPL12	OMIM:618951
HP:0001939	Abnormality of metabolism/homeostasis	63899	NSUN3	OMIM:619012
HP:0001939	Abnormality of metabolism/homeostasis	119559	SFXN4	OMIM:615578
HP:0001939	Abnormality of metabolism/homeostasis	2806	GOT2	OMIM:618721
HP:0001939	Abnormality of metabolism/homeostasis	124454	EARS2	OMIM:614924
HP:0001939	Abnormality of metabolism/homeostasis	1468	SLC25A10	OMIM:618972
HP:0001939	Abnormality of metabolism/homeostasis	29928	TIMM22	OMIM:618851
HP:0001939	Abnormality of metabolism/homeostasis	115286	SLC25A26	OMIM:616794
HP:0001939	Abnormality of metabolism/homeostasis	22868	FASTKD2	OMIM:618855
HP:0001939	Abnormality of metabolism/homeostasis	10058	ABCB6	ORPHA:90044
HP:0001939	Abnormality of metabolism/homeostasis	10058	ABCB6	OMIM:609153
HP:0001939	Abnormality of metabolism/homeostasis	84699	CREB3L3	OMIM:619324
HP:0001939	Abnormality of metabolism/homeostasis	2314	FLII	ORPHA:819
HP:0001939	Abnormality of metabolism/homeostasis	23096	IQSEC2	ORPHA:819
HP:0001939	Abnormality of metabolism/homeostasis	10522	DEAF1	ORPHA:819
HP:0001939	Abnormality of metabolism/homeostasis	284654	RSPO1	OMIM:610644
HP:0001939	Abnormality of metabolism/homeostasis	338328	GPIHBP1	OMIM:615947
HP:0001939	Abnormality of metabolism/homeostasis	444	ASPH	OMIM:601552
HP:0001939	Abnormality of metabolism/homeostasis	8882	ZPR1	OMIM:619321
HP:0001939	Abnormality of metabolism/homeostasis	23126	POGZ	OMIM:616364
HP:0001939	Abnormality of metabolism/homeostasis	6611	SMS	ORPHA:3063
HP:0001939	Abnormality of metabolism/homeostasis	3785	KCNQ2	ORPHA:439218
HP:0001939	Abnormality of metabolism/homeostasis	51692	CPSF3	OMIM:619876
HP:0001939	Abnormality of metabolism/homeostasis	51163	DBR1	OMIM:620510
HP:0001939	Abnormality of metabolism/homeostasis	2294	FOXF1	OMIM:265380
HP:0001939	Abnormality of metabolism/homeostasis	51422	PRKAG2	OMIM:261740
HP:0001939	Abnormality of metabolism/homeostasis	440275	EIF2AK4	ORPHA:199241
HP:0001939	Abnormality of metabolism/homeostasis	10203	CALCRL	OMIM:618773
HP:0001939	Abnormality of metabolism/homeostasis	9131	AIFM1	ORPHA:238329
HP:0001939	Abnormality of metabolism/homeostasis	9131	AIFM1	OMIM:300816
HP:0001939	Abnormality of metabolism/homeostasis	4702	NDUFA8	OMIM:619272
HP:0001939	Abnormality of metabolism/homeostasis	54539	NDUFB11	ORPHA:2609
HP:0001939	Abnormality of metabolism/homeostasis	25915	NDUFAF3	ORPHA:2609
HP:0001939	Abnormality of metabolism/homeostasis	25915	NDUFAF3	OMIM:618240
HP:0001939	Abnormality of metabolism/homeostasis	51103	NDUFAF1	ORPHA:2609
HP:0001939	Abnormality of metabolism/homeostasis	91942	NDUFAF2	ORPHA:2609
HP:0001939	Abnormality of metabolism/homeostasis	91942	NDUFAF2	OMIM:618233
HP:0001939	Abnormality of metabolism/homeostasis	51300	TIMMDC1	ORPHA:2609
HP:0001939	Abnormality of metabolism/homeostasis	4723	NDUFV1	ORPHA:2609
HP:0001939	Abnormality of metabolism/homeostasis	4723	NDUFV1	OMIM:618225
HP:0001939	Abnormality of metabolism/homeostasis	55572	FOXRED1	ORPHA:2609
HP:0001939	Abnormality of metabolism/homeostasis	284184	NDUFAF8	ORPHA:2609
HP:0001939	Abnormality of metabolism/homeostasis	4729	NDUFV2	ORPHA:2609
HP:0001939	Abnormality of metabolism/homeostasis	4694	NDUFA1	ORPHA:2609
HP:0001939	Abnormality of metabolism/homeostasis	4720	NDUFS2	ORPHA:2609
HP:0001939	Abnormality of metabolism/homeostasis	4726	NDUFS6	ORPHA:2609
HP:0001939	Abnormality of metabolism/homeostasis	4728	NDUFS8	ORPHA:2609
HP:0001939	Abnormality of metabolism/homeostasis	4722	NDUFS3	ORPHA:2609
HP:0001939	Abnormality of metabolism/homeostasis	4722	NDUFS3	OMIM:618230
HP:0001939	Abnormality of metabolism/homeostasis	79133	NDUFAF5	ORPHA:2609
HP:0001939	Abnormality of metabolism/homeostasis	79133	NDUFAF5	OMIM:618238
HP:0001939	Abnormality of metabolism/homeostasis	126328	NDUFA11	ORPHA:2609
HP:0001939	Abnormality of metabolism/homeostasis	4709	NDUFB3	ORPHA:2609
HP:0001939	Abnormality of metabolism/homeostasis	80224	NUBPL	ORPHA:2609
HP:0001939	Abnormality of metabolism/homeostasis	80224	NUBPL	OMIM:618242
HP:0001939	Abnormality of metabolism/homeostasis	29078	NDUFAF4	ORPHA:2609
HP:0001939	Abnormality of metabolism/homeostasis	374291	NDUFS7	ORPHA:2609
HP:0001939	Abnormality of metabolism/homeostasis	4700	NDUFA6	ORPHA:2609
HP:0001939	Abnormality of metabolism/homeostasis	4700	NDUFA6	OMIM:618253
HP:0001939	Abnormality of metabolism/homeostasis	4719	NDUFS1	ORPHA:2609
HP:0001939	Abnormality of metabolism/homeostasis	4719	NDUFS1	OMIM:618226
HP:0001939	Abnormality of metabolism/homeostasis	4715	NDUFB9	ORPHA:2609
HP:0001939	Abnormality of metabolism/homeostasis	4570	MT-TN	OMIM:220110
HP:0001939	Abnormality of metabolism/homeostasis	6834	SURF1	OMIM:220110
HP:0001939	Abnormality of metabolism/homeostasis	84334	COA8	ORPHA:436271
HP:0001939	Abnormality of metabolism/homeostasis	123263	MTFMT	OMIM:614947
HP:0001939	Abnormality of metabolism/homeostasis	10667	FARS2	OMIM:614946
HP:0001939	Abnormality of metabolism/homeostasis	8050	PDHX	ORPHA:255182
HP:0001939	Abnormality of metabolism/homeostasis	51112	TRAPPC12	ORPHA:500144
HP:0001939	Abnormality of metabolism/homeostasis	65993	MRPS34	OMIM:617664
HP:0001939	Abnormality of metabolism/homeostasis	5160	PDHA1	OMIM:312170
HP:0001939	Abnormality of metabolism/homeostasis	5160	PDHA1	ORPHA:79243
HP:0001939	Abnormality of metabolism/homeostasis	1352	COX10	OMIM:619046
HP:0001939	Abnormality of metabolism/homeostasis	1353	COX11	OMIM:620275
HP:0001939	Abnormality of metabolism/homeostasis	87178	PNPT1	ORPHA:319514
HP:0001939	Abnormality of metabolism/homeostasis	87178	PNPT1	OMIM:614932
HP:0001939	Abnormality of metabolism/homeostasis	55967	NDUFA12	OMIM:618244
HP:0001939	Abnormality of metabolism/homeostasis	1351	COX8A	OMIM:619059
HP:0001939	Abnormality of metabolism/homeostasis	116228	COX20	OMIM:619054
HP:0001939	Abnormality of metabolism/homeostasis	100131801	PET100	OMIM:619055
HP:0001939	Abnormality of metabolism/homeostasis	55157	DARS2	ORPHA:137898
HP:0001939	Abnormality of metabolism/homeostasis	9361	LONP1	ORPHA:79243
HP:0001939	Abnormality of metabolism/homeostasis	91647	ATPAF2	OMIM:604273
HP:0001939	Abnormality of metabolism/homeostasis	100303755	PET117	OMIM:619063
HP:0001939	Abnormality of metabolism/homeostasis	4697	NDUFA4	OMIM:619065
HP:0001939	Abnormality of metabolism/homeostasis	4714	NDUFB8	OMIM:618252
HP:0001939	Abnormality of metabolism/homeostasis	84300	UQCC2	OMIM:615824
HP:0001939	Abnormality of metabolism/homeostasis	27010	TPK1	OMIM:614458
HP:0001939	Abnormality of metabolism/homeostasis	64849	SLC13A3	OMIM:618384
HP:0001939	Abnormality of metabolism/homeostasis	92609	TIMM50	OMIM:617698
HP:0001939	Abnormality of metabolism/homeostasis	90624	LYRM7	OMIM:615838
HP:0001939	Abnormality of metabolism/homeostasis	128240	NAXE	OMIM:617186
HP:0001939	Abnormality of metabolism/homeostasis	4976	OPA1	OMIM:616896
HP:0001939	Abnormality of metabolism/homeostasis	539	ATP5PO	OMIM:620359
HP:0001939	Abnormality of metabolism/homeostasis	57038	RARS2	OMIM:611523
HP:0001939	Abnormality of metabolism/homeostasis	55005	RMND1	OMIM:614922
HP:0001939	Abnormality of metabolism/homeostasis	64116	SLC39A8	ORPHA:468699
HP:0001939	Abnormality of metabolism/homeostasis	84842	HPDL	OMIM:619026
HP:0001939	Abnormality of metabolism/homeostasis	1892	ECHS1	OMIM:616277
HP:0001939	Abnormality of metabolism/homeostasis	8803	SUCLA2	OMIM:612073
HP:0001939	Abnormality of metabolism/homeostasis	133686	NADK2	OMIM:616034
HP:0001939	Abnormality of metabolism/homeostasis	27429	HTRA2	OMIM:617248
HP:0001939	Abnormality of metabolism/homeostasis	9020	MAP3K14	OMIM:620449
HP:0001939	Abnormality of metabolism/homeostasis	10815	CPLX1	ORPHA:280
HP:0001939	Abnormality of metabolism/homeostasis	7469	NELFA	ORPHA:280
HP:0001939	Abnormality of metabolism/homeostasis	1487	CTBP1	ORPHA:280
HP:0001939	Abnormality of metabolism/homeostasis	7468	NSD2	ORPHA:280
HP:0001939	Abnormality of metabolism/homeostasis	10043	TOM1	OMIM:619510
HP:0001939	Abnormality of metabolism/homeostasis	10526	IPO8	OMIM:619472
HP:0001939	Abnormality of metabolism/homeostasis	54440	SASH3	OMIM:301082
HP:0001939	Abnormality of metabolism/homeostasis	84905	ZNF341	OMIM:618282
HP:0001939	Abnormality of metabolism/homeostasis	139818	DOCK11	OMIM:301109
HP:0001939	Abnormality of metabolism/homeostasis	958	CD40	OMIM:606843
HP:0001939	Abnormality of metabolism/homeostasis	959	CD40LG	OMIM:308230
HP:0001939	Abnormality of metabolism/homeostasis	30011	SH3KBP1	OMIM:300310
HP:0001939	Abnormality of metabolism/homeostasis	28956	LAMTOR2	OMIM:610798
HP:0001939	Abnormality of metabolism/homeostasis	81704	DOCK8	OMIM:243700
HP:0001939	Abnormality of metabolism/homeostasis	96459	FNIP1	OMIM:619705
HP:0001939	Abnormality of metabolism/homeostasis	9138	ARHGEF1	OMIM:618459
HP:0001939	Abnormality of metabolism/homeostasis	8883	NAE1	OMIM:620210
HP:0001939	Abnormality of metabolism/homeostasis	801	CALM1	ORPHA:101016
HP:0001939	Abnormality of metabolism/homeostasis	3753	KCNE1	ORPHA:101016
HP:0001939	Abnormality of metabolism/homeostasis	805	CALM2	ORPHA:101016
HP:0001939	Abnormality of metabolism/homeostasis	6910	TBX5	ORPHA:101016
HP:0001939	Abnormality of metabolism/homeostasis	3757	KCNH2	ORPHA:101016
HP:0001939	Abnormality of metabolism/homeostasis	9992	KCNE2	ORPHA:101016
HP:0001939	Abnormality of metabolism/homeostasis	10142	AKAP9	ORPHA:101016
HP:0001939	Abnormality of metabolism/homeostasis	10345	TRDN	ORPHA:101016
HP:0001939	Abnormality of metabolism/homeostasis	6330	SCN4B	ORPHA:101016
HP:0001939	Abnormality of metabolism/homeostasis	808	CALM3	ORPHA:101016
HP:0001939	Abnormality of metabolism/homeostasis	6640	SNTA1	ORPHA:101016
HP:0001939	Abnormality of metabolism/homeostasis	287	ANK2	ORPHA:101016
HP:0001939	Abnormality of metabolism/homeostasis	3759	KCNJ2	OMIM:170390
HP:0001939	Abnormality of metabolism/homeostasis	1281	COL3A1	ORPHA:286
HP:0001939	Abnormality of metabolism/homeostasis	1436	CSF1R	OMIM:618476
HP:0001939	Abnormality of metabolism/homeostasis	140803	TRPM6	OMIM:602014
HP:0001939	Abnormality of metabolism/homeostasis	64864	RFX7	OMIM:620330
HP:0001939	Abnormality of metabolism/homeostasis	28962	OSTM1	OMIM:259720
HP:0001939	Abnormality of metabolism/homeostasis	8021	NUP214	OMIM:618426
HP:0001939	Abnormality of metabolism/homeostasis	29072	SETD2	OMIM:620157
HP:0001939	Abnormality of metabolism/homeostasis	29072	SETD2	OMIM:620155
HP:0001939	Abnormality of metabolism/homeostasis	51567	TDP2	OMIM:616949
HP:0001939	Abnormality of metabolism/homeostasis	57680	CHD8	OMIM:615032
HP:0001939	Abnormality of metabolism/homeostasis	9338	TCEAL1	OMIM:301094
HP:0001939	Abnormality of metabolism/homeostasis	2591	GALNT3	OMIM:211900
HP:0001939	Abnormality of metabolism/homeostasis	63901	FAM111A	OMIM:127000
HP:0001939	Abnormality of metabolism/homeostasis	63901	FAM111A	ORPHA:93325
HP:0001939	Abnormality of metabolism/homeostasis	8029	CUBN	OMIM:261100
HP:0001939	Abnormality of metabolism/homeostasis	2335	FN1	ORPHA:84090
HP:0001939	Abnormality of metabolism/homeostasis	2335	FN1	OMIM:601894
HP:0001939	Abnormality of metabolism/homeostasis	2147	F2	ORPHA:325
HP:0001939	Abnormality of metabolism/homeostasis	81494	CFHR5	OMIM:614809
HP:0001939	Abnormality of metabolism/homeostasis	23630	KCNE5	ORPHA:86818
HP:0001939	Abnormality of metabolism/homeostasis	2182	ACSL4	ORPHA:86818
HP:0001939	Abnormality of metabolism/homeostasis	79848	CSPP1	ORPHA:397715
HP:0001939	Abnormality of metabolism/homeostasis	60561	RINT1	OMIM:618641
HP:0001939	Abnormality of metabolism/homeostasis	22897	CEP164	OMIM:614845
HP:0001939	Abnormality of metabolism/homeostasis	2677	GGCX	OMIM:277450
HP:0001939	Abnormality of metabolism/homeostasis	10068	IL18BP	OMIM:618549
HP:0001939	Abnormality of metabolism/homeostasis	8818	DPM2	OMIM:615042
HP:0001939	Abnormality of metabolism/homeostasis	8818	DPM2	ORPHA:329178
HP:0001939	Abnormality of metabolism/homeostasis	29127	RACGAP1	ORPHA:98870
HP:0001939	Abnormality of metabolism/homeostasis	8813	DPM1	OMIM:608799
HP:0001939	Abnormality of metabolism/homeostasis	8813	DPM1	ORPHA:79322
HP:0001939	Abnormality of metabolism/homeostasis	5825	ABCD3	OMIM:616278
HP:0001939	Abnormality of metabolism/homeostasis	54344	DPM3	ORPHA:263494
HP:0001939	Abnormality of metabolism/homeostasis	54344	DPM3	OMIM:612937
HP:0001939	Abnormality of metabolism/homeostasis	2658	GDF2	OMIM:615506
HP:0001939	Abnormality of metabolism/homeostasis	10159	ATP6AP2	OMIM:301045
HP:0001939	Abnormality of metabolism/homeostasis	10466	COG5	ORPHA:263487
HP:0001939	Abnormality of metabolism/homeostasis	55593	OTUD5	OMIM:301056
HP:0001939	Abnormality of metabolism/homeostasis	55182	RNF220	OMIM:619688
HP:0001939	Abnormality of metabolism/homeostasis	29998	BICRA	OMIM:619325
HP:0001939	Abnormality of metabolism/homeostasis	79644	SRD5A3	OMIM:612379
HP:0001939	Abnormality of metabolism/homeostasis	79644	SRD5A3	ORPHA:324737
HP:0001939	Abnormality of metabolism/homeostasis	3431	SP110	ORPHA:79124
HP:0001939	Abnormality of metabolism/homeostasis	7289	TULP3	OMIM:619902
HP:0001939	Abnormality of metabolism/homeostasis	56623	INPP5E	ORPHA:1454
HP:0001939	Abnormality of metabolism/homeostasis	23322	RPGRIP1L	ORPHA:1454
HP:0001939	Abnormality of metabolism/homeostasis	4790	NFKB1	ORPHA:1572
HP:0001939	Abnormality of metabolism/homeostasis	8742	TNFSF12	ORPHA:1572
HP:0001939	Abnormality of metabolism/homeostasis	931	MS4A1	ORPHA:1572
HP:0001939	Abnormality of metabolism/homeostasis	4534	MTM1	OMIM:310400
HP:0001939	Abnormality of metabolism/homeostasis	27232	GNMT	OMIM:606664
HP:0001939	Abnormality of metabolism/homeostasis	2273	FHL1	OMIM:300280
HP:0001939	Abnormality of metabolism/homeostasis	1650	DDOST	ORPHA:300536
HP:0001939	Abnormality of metabolism/homeostasis	3054	HCFC1	OMIM:309541
HP:0001939	Abnormality of metabolism/homeostasis	3033	HADH	OMIM:231530
HP:0001939	Abnormality of metabolism/homeostasis	3033	HADH	ORPHA:71212
HP:0001939	Abnormality of metabolism/homeostasis	5837	PYGM	OMIM:232600
HP:0001939	Abnormality of metabolism/homeostasis	1376	CPT2	ORPHA:228302
HP:0001939	Abnormality of metabolism/homeostasis	1376	CPT2	ORPHA:228305
HP:0001939	Abnormality of metabolism/homeostasis	1376	CPT2	ORPHA:228308
HP:0001939	Abnormality of metabolism/homeostasis	1376	CPT2	OMIM:255110
HP:0001939	Abnormality of metabolism/homeostasis	3032	HADHB	OMIM:620300
HP:0001939	Abnormality of metabolism/homeostasis	779	CACNA1S	ORPHA:423
HP:0001939	Abnormality of metabolism/homeostasis	6261	RYR1	ORPHA:423
HP:0001939	Abnormality of metabolism/homeostasis	6261	RYR1	OMIM:145600
HP:0001939	Abnormality of metabolism/homeostasis	23479	ISCU	OMIM:255125
HP:0001939	Abnormality of metabolism/homeostasis	226	ALDOA	ORPHA:57
HP:0001939	Abnormality of metabolism/homeostasis	112812	FDX2	OMIM:251900
HP:0001939	Abnormality of metabolism/homeostasis	5224	PGAM2	OMIM:261670
HP:0001939	Abnormality of metabolism/homeostasis	128989	TANGO2	OMIM:616878
HP:0001939	Abnormality of metabolism/homeostasis	90523	MLIP	OMIM:620138
HP:0001939	Abnormality of metabolism/homeostasis	3939	LDHA	OMIM:612933
HP:0001939	Abnormality of metabolism/homeostasis	6443	SGCB	ORPHA:119
HP:0001939	Abnormality of metabolism/homeostasis	5230	PGK1	ORPHA:713
HP:0001939	Abnormality of metabolism/homeostasis	5255	PHKA1	ORPHA:715
HP:0001939	Abnormality of metabolism/homeostasis	5260	PHKG1	ORPHA:715
HP:0001939	Abnormality of metabolism/homeostasis	203859	ANO5	ORPHA:206549
HP:0001939	Abnormality of metabolism/homeostasis	140732	SUN5	ORPHA:529970
HP:0001939	Abnormality of metabolism/homeostasis	83449	PMFBP1	ORPHA:529970
HP:0001939	Abnormality of metabolism/homeostasis	4204	MECP2	ORPHA:1762
HP:0001939	Abnormality of metabolism/homeostasis	6469	SHH	OMIM:147250
HP:0001939	Abnormality of metabolism/homeostasis	3930	LBR	OMIM:169400
HP:0001939	Abnormality of metabolism/homeostasis	2697	GJA1	ORPHA:2248
HP:0001939	Abnormality of metabolism/homeostasis	10743	RAI1	ORPHA:1713
HP:0001939	Abnormality of metabolism/homeostasis	1950	EGF	OMIM:611718
HP:0001939	Abnormality of metabolism/homeostasis	54805	CNNM2	OMIM:613882
HP:0001939	Abnormality of metabolism/homeostasis	54805	CNNM2	OMIM:616418
HP:0001939	Abnormality of metabolism/homeostasis	7074	TIAM1	OMIM:619908
HP:0001939	Abnormality of metabolism/homeostasis	84987	COX14	OMIM:619053
HP:0001939	Abnormality of metabolism/homeostasis	3155	HMGCL	ORPHA:20
HP:0001939	Abnormality of metabolism/homeostasis	3155	HMGCL	OMIM:246450
HP:0001939	Abnormality of metabolism/homeostasis	51241	COX16	OMIM:619355
HP:0001939	Abnormality of metabolism/homeostasis	5105	PCK1	OMIM:261680
HP:0001939	Abnormality of metabolism/homeostasis	84693	MCEE	OMIM:251120
HP:0001939	Abnormality of metabolism/homeostasis	1594	CYP27B1	OMIM:264700
HP:0001939	Abnormality of metabolism/homeostasis	132001	TAMM41	OMIM:620139
HP:0001939	Abnormality of metabolism/homeostasis	56922	MCCC1	OMIM:210200
HP:0001939	Abnormality of metabolism/homeostasis	10165	SLC25A13	ORPHA:247598
HP:0001939	Abnormality of metabolism/homeostasis	4558	MT-TF	ORPHA:550
HP:0001939	Abnormality of metabolism/homeostasis	4572	MT-TQ	ORPHA:550
HP:0001939	Abnormality of metabolism/homeostasis	4512	MT-CO1	ORPHA:550
HP:0001939	Abnormality of metabolism/homeostasis	4513	MT-CO2	ORPHA:550
HP:0001939	Abnormality of metabolism/homeostasis	4514	MT-CO3	ORPHA:550
HP:0001939	Abnormality of metabolism/homeostasis	4578	MT-TW	ORPHA:550
HP:0001939	Abnormality of metabolism/homeostasis	4540	MT-ND5	ORPHA:550
HP:0001939	Abnormality of metabolism/homeostasis	4541	MT-ND6	ORPHA:550
HP:0001939	Abnormality of metabolism/homeostasis	4535	MT-ND1	ORPHA:550
HP:0001939	Abnormality of metabolism/homeostasis	4538	MT-ND4	ORPHA:550
HP:0001939	Abnormality of metabolism/homeostasis	4567	MT-TL1	ORPHA:550
HP:0001939	Abnormality of metabolism/homeostasis	4567	MT-TL1	ORPHA:480
HP:0001939	Abnormality of metabolism/homeostasis	4574	MT-TS1	ORPHA:550
HP:0001939	Abnormality of metabolism/homeostasis	4575	MT-TS2	ORPHA:550
HP:0001939	Abnormality of metabolism/homeostasis	4564	MT-TH	ORPHA:550
HP:0001939	Abnormality of metabolism/homeostasis	10367	MICU1	OMIM:615673
HP:0001939	Abnormality of metabolism/homeostasis	100996717	NOTCH2NLC	OMIM:619473
HP:0001939	Abnormality of metabolism/homeostasis	100996717	NOTCH2NLC	OMIM:603472
HP:0001939	Abnormality of metabolism/homeostasis	8659	ALDH4A1	ORPHA:79101
HP:0001939	Abnormality of metabolism/homeostasis	285362	SUMF1	OMIM:272200
HP:0001939	Abnormality of metabolism/homeostasis	5551	PRF1	OMIM:603553
HP:0001939	Abnormality of metabolism/homeostasis	2581	GALC	ORPHA:206443
HP:0001939	Abnormality of metabolism/homeostasis	2581	GALC	ORPHA:206448
HP:0001939	Abnormality of metabolism/homeostasis	2581	GALC	ORPHA:206436
HP:0001939	Abnormality of metabolism/homeostasis	2581	GALC	OMIM:245200
HP:0001939	Abnormality of metabolism/homeostasis	25828	TXN2	ORPHA:478029
HP:0001939	Abnormality of metabolism/homeostasis	25828	TXN2	OMIM:616811
HP:0001939	Abnormality of metabolism/homeostasis	2670	GFAP	OMIM:203450
HP:0001939	Abnormality of metabolism/homeostasis	100506658	OCLN	OMIM:251290
HP:0001939	Abnormality of metabolism/homeostasis	5698	PSMB9	OMIM:620796
HP:0001939	Abnormality of metabolism/homeostasis	4724	NDUFS4	OMIM:252010
HP:0001939	Abnormality of metabolism/homeostasis	966	CD59	OMIM:612300
HP:0001939	Abnormality of metabolism/homeostasis	4358	MPV17	OMIM:256810
HP:0001939	Abnormality of metabolism/homeostasis	3119	HLA-DQB1	OMIM:123400
HP:0001939	Abnormality of metabolism/homeostasis	773	CACNA1A	ORPHA:569
HP:0001939	Abnormality of metabolism/homeostasis	112476	PRRT2	ORPHA:569
HP:0001939	Abnormality of metabolism/homeostasis	6323	SCN1A	ORPHA:569
HP:0001939	Abnormality of metabolism/homeostasis	477	ATP1A2	ORPHA:569
HP:0001939	Abnormality of metabolism/homeostasis	5903	RANBP2	OMIM:608033
HP:0001939	Abnormality of metabolism/homeostasis	5903	RANBP2	ORPHA:88619
HP:0001939	Abnormality of metabolism/homeostasis	2632	GBE1	OMIM:263570
HP:0001939	Abnormality of metabolism/homeostasis	587	BCAT2	OMIM:618850
HP:0001939	Abnormality of metabolism/homeostasis	4509	MT-ATP8	ORPHA:480
HP:0001939	Abnormality of metabolism/homeostasis	5376	PMP22	OMIM:145900
HP:0001939	Abnormality of metabolism/homeostasis	4359	MPZ	OMIM:145900
HP:0001939	Abnormality of metabolism/homeostasis	4359	MPZ	ORPHA:101082
HP:0001939	Abnormality of metabolism/homeostasis	1959	EGR2	OMIM:145900
HP:0001939	Abnormality of metabolism/homeostasis	57716	PRX	OMIM:145900
HP:0001939	Abnormality of metabolism/homeostasis	4001	LMNB1	ORPHA:99027
HP:0001939	Abnormality of metabolism/homeostasis	56244	BTNL2	ORPHA:797
HP:0001939	Abnormality of metabolism/homeostasis	9990	SLC12A6	OMIM:218000
HP:0001939	Abnormality of metabolism/homeostasis	7187	TRAF3	ORPHA:1930
HP:0001939	Abnormality of metabolism/homeostasis	81622	UNC93B1	ORPHA:1930
HP:0001939	Abnormality of metabolism/homeostasis	148022	TICAM1	ORPHA:1930
HP:0001939	Abnormality of metabolism/homeostasis	7098	TLR3	ORPHA:1930
HP:0001939	Abnormality of metabolism/homeostasis	29110	TBK1	ORPHA:1930
HP:0001939	Abnormality of metabolism/homeostasis	5162	PDHB	ORPHA:255138
HP:0001939	Abnormality of metabolism/homeostasis	54148	MRPL39	OMIM:620646
HP:0001939	Abnormality of metabolism/homeostasis	57379	AICDA	OMIM:605258
HP:0001939	Abnormality of metabolism/homeostasis	7374	UNG	OMIM:608106
HP:0001939	Abnormality of metabolism/homeostasis	7204	TRIO	ORPHA:476126
HP:0001939	Abnormality of metabolism/homeostasis	7543	ZFX	OMIM:301118
HP:0001939	Abnormality of metabolism/homeostasis	55775	TDP1	ORPHA:94124
HP:0001939	Abnormality of metabolism/homeostasis	55775	TDP1	OMIM:607250
HP:0001939	Abnormality of metabolism/homeostasis	162	AP1B1	OMIM:242150
HP:0001939	Abnormality of metabolism/homeostasis	54840	APTX	OMIM:208920
HP:0001939	Abnormality of metabolism/homeostasis	23533	PIK3R5	ORPHA:64753
HP:0001939	Abnormality of metabolism/homeostasis	23064	SETX	ORPHA:64753
HP:0001939	Abnormality of metabolism/homeostasis	56052	ALG1	ORPHA:79327
HP:0001939	Abnormality of metabolism/homeostasis	51703	ACSL5	OMIM:620357
HP:0001939	Abnormality of metabolism/homeostasis	11284	PNKP	OMIM:616267
HP:0001939	Abnormality of metabolism/homeostasis	2193	FARSA	OMIM:619013
HP:0001939	Abnormality of metabolism/homeostasis	8694	DGAT1	OMIM:615863
HP:0001939	Abnormality of metabolism/homeostasis	1828	DSG1	OMIM:615508
HP:0001939	Abnormality of metabolism/homeostasis	2737	GLI3	OMIM:175700
HP:0001939	Abnormality of metabolism/homeostasis	27125	AFF4	ORPHA:444077
HP:0001939	Abnormality of metabolism/homeostasis	9149	DYRK1B	OMIM:615812
HP:0001939	Abnormality of metabolism/homeostasis	9699	RIMS2	OMIM:618970
HP:0001939	Abnormality of metabolism/homeostasis	9722	NOS1AP	OMIM:619155
HP:0001939	Abnormality of metabolism/homeostasis	10616	RBCK1	OMIM:615895
HP:0001939	Abnormality of metabolism/homeostasis	1798	DPAGT1	OMIM:608093
HP:0001939	Abnormality of metabolism/homeostasis	5651	TMPRSS15	OMIM:226200
HP:0001939	Abnormality of metabolism/homeostasis	387700	SLC16A12	OMIM:612018
HP:0001939	Abnormality of metabolism/homeostasis	4023	LPL	OMIM:238600
HP:0001939	Abnormality of metabolism/homeostasis	4023	LPL	OMIM:144250
HP:0001939	Abnormality of metabolism/homeostasis	3949	LDLR	ORPHA:391665
HP:0001939	Abnormality of metabolism/homeostasis	255738	PCSK9	ORPHA:391665
HP:0001939	Abnormality of metabolism/homeostasis	26119	LDLRAP1	ORPHA:391665
HP:0001939	Abnormality of metabolism/homeostasis	338	APOB	ORPHA:391665
HP:0001939	Abnormality of metabolism/homeostasis	64240	ABCG5	ORPHA:391665
HP:0001939	Abnormality of metabolism/homeostasis	4644	MYO5A	ORPHA:79476
HP:0001939	Abnormality of metabolism/homeostasis	1643	DDB2	OMIM:278740
HP:0001939	Abnormality of metabolism/homeostasis	404672	GTF2H5	ORPHA:33364
HP:0001939	Abnormality of metabolism/homeostasis	833	CARS1	ORPHA:33364
HP:0001939	Abnormality of metabolism/homeostasis	7737	RNF113A	ORPHA:33364
HP:0001939	Abnormality of metabolism/homeostasis	136647	MPLKIP	ORPHA:33364
HP:0001939	Abnormality of metabolism/homeostasis	6897	TARS1	ORPHA:33364
HP:0001939	Abnormality of metabolism/homeostasis	16	AARS1	ORPHA:33364
HP:0001939	Abnormality of metabolism/homeostasis	2961	GTF2E2	ORPHA:33364
HP:0001939	Abnormality of metabolism/homeostasis	7508	XPC	OMIM:278720
HP:0001939	Abnormality of metabolism/homeostasis	7507	XPA	OMIM:278700
HP:0001939	Abnormality of metabolism/homeostasis	153201	SLC36A2	OMIM:242600
HP:0001939	Abnormality of metabolism/homeostasis	153201	SLC36A2	ORPHA:42062
HP:0001939	Abnormality of metabolism/homeostasis	348932	SLC6A18	ORPHA:42062
HP:0001939	Abnormality of metabolism/homeostasis	54716	SLC6A20	ORPHA:42062
HP:0001939	Abnormality of metabolism/homeostasis	5352	PLOD2	OMIM:609220
HP:0001939	Abnormality of metabolism/homeostasis	1718	DHCR24	OMIM:602398
HP:0001939	Abnormality of metabolism/homeostasis	3064	HTT	ORPHA:399
HP:0001939	Abnormality of metabolism/homeostasis	6515	SLC2A3	ORPHA:399
HP:0001939	Abnormality of metabolism/homeostasis	50814	NSDHL	ORPHA:251383
HP:0001939	Abnormality of metabolism/homeostasis	2731	GLDC	OMIM:605899
HP:0001939	Abnormality of metabolism/homeostasis	3845	KRAS	OMIM:163200
HP:0001939	Abnormality of metabolism/homeostasis	3265	HRAS	OMIM:163200
HP:0001939	Abnormality of metabolism/homeostasis	112817	HOGA1	ORPHA:93600
HP:0001939	Abnormality of metabolism/homeostasis	3909	LAMA3	ORPHA:79404
HP:0001939	Abnormality of metabolism/homeostasis	3918	LAMC2	ORPHA:79404
HP:0001939	Abnormality of metabolism/homeostasis	3914	LAMB3	ORPHA:79404
HP:0001939	Abnormality of metabolism/homeostasis	50943	FOXP3	ORPHA:37042
HP:0001939	Abnormality of metabolism/homeostasis	3594	IL12RB1	ORPHA:186
HP:0001939	Abnormality of metabolism/homeostasis	23534	TNPO3	ORPHA:186
HP:0001939	Abnormality of metabolism/homeostasis	6689	SPIB	ORPHA:186
HP:0001939	Abnormality of metabolism/homeostasis	5450	POU2AF1	ORPHA:186
HP:0001939	Abnormality of metabolism/homeostasis	9966	TNFSF15	ORPHA:186
HP:0001939	Abnormality of metabolism/homeostasis	79258	MMEL1	ORPHA:186
HP:0001939	Abnormality of metabolism/homeostasis	6609	SMPD1	ORPHA:77293
HP:0001939	Abnormality of metabolism/homeostasis	2200	FBN1	ORPHA:2833
HP:0001939	Abnormality of metabolism/homeostasis	7461	CLIP2	ORPHA:904
HP:0001939	Abnormality of metabolism/homeostasis	84277	DNAJC30	ORPHA:904
HP:0001939	Abnormality of metabolism/homeostasis	8468	FKBP6	ORPHA:904
HP:0001939	Abnormality of metabolism/homeostasis	5982	RFC2	ORPHA:904
HP:0001939	Abnormality of metabolism/homeostasis	2969	GTF2I	ORPHA:904
HP:0001939	Abnormality of metabolism/homeostasis	3984	LIMK1	ORPHA:904
HP:0001939	Abnormality of metabolism/homeostasis	9569	GTF2IRD1	ORPHA:904
HP:0001939	Abnormality of metabolism/homeostasis	155382	VPS37D	ORPHA:904
HP:0001939	Abnormality of metabolism/homeostasis	155368	METTL27	ORPHA:904
HP:0001939	Abnormality of metabolism/homeostasis	114049	BUD23	ORPHA:904
HP:0001939	Abnormality of metabolism/homeostasis	7458	EIF4H	ORPHA:904
HP:0001939	Abnormality of metabolism/homeostasis	84163	GTF2IRD2	ORPHA:904
HP:0001939	Abnormality of metabolism/homeostasis	26608	TBL2	ORPHA:904
HP:0001939	Abnormality of metabolism/homeostasis	135886	TMEM270	ORPHA:904
HP:0001939	Abnormality of metabolism/homeostasis	9031	BAZ1B	ORPHA:904
HP:0001939	Abnormality of metabolism/homeostasis	55806	HR	ORPHA:701
HP:0001939	Abnormality of metabolism/homeostasis	19	ABCA1	ORPHA:425
HP:0001939	Abnormality of metabolism/homeostasis	1733	DIO1	OMIM:619855
HP:0001939	Abnormality of metabolism/homeostasis	6907	TBL1X	OMIM:301033
HP:0001939	Abnormality of metabolism/homeostasis	486	FXYD2	OMIM:154020
HP:0001939	Abnormality of metabolism/homeostasis	1355	COX15	OMIM:615119
HP:0001939	Abnormality of metabolism/homeostasis	57176	VARS2	OMIM:615917
HP:0001939	Abnormality of metabolism/homeostasis	4511	MT-TC	OMIM:540000
HP:0001939	Abnormality of metabolism/homeostasis	501	ALDH7A1	ORPHA:3006
HP:0001939	Abnormality of metabolism/homeostasis	23203	PMPCA	ORPHA:1170
HP:0001939	Abnormality of metabolism/homeostasis	4576	MT-TT	OMIM:551000
HP:0001939	Abnormality of metabolism/homeostasis	2671	GFER	ORPHA:330054
HP:0001939	Abnormality of metabolism/homeostasis	26007	TKFC	ORPHA:1369
HP:0001939	Abnormality of metabolism/homeostasis	26007	TKFC	OMIM:618805
HP:0001939	Abnormality of metabolism/homeostasis	11274	USP18	OMIM:617397
HP:0001939	Abnormality of metabolism/homeostasis	58472	SQOR	OMIM:619221
HP:0001939	Abnormality of metabolism/homeostasis	51520	LARS1	OMIM:615438
HP:0001939	Abnormality of metabolism/homeostasis	60528	ELAC2	OMIM:615440
HP:0001939	Abnormality of metabolism/homeostasis	55278	QRSL1	OMIM:618835
HP:0001939	Abnormality of metabolism/homeostasis	5188	GATB	OMIM:618838
HP:0001939	Abnormality of metabolism/homeostasis	283459	GATC	OMIM:618839
HP:0001939	Abnormality of metabolism/homeostasis	4713	NDUFB7	OMIM:620135
HP:0001939	Abnormality of metabolism/homeostasis	50615	IL21R	OMIM:615207
HP:0001939	Abnormality of metabolism/homeostasis	336	APOA2	OMIM:143890
HP:0001939	Abnormality of metabolism/homeostasis	2053	EPHX2	OMIM:143890
HP:0001939	Abnormality of metabolism/homeostasis	10842	PPP1R17	OMIM:143890
HP:0001939	Abnormality of metabolism/homeostasis	20	ABCA2	OMIM:618808
HP:0001939	Abnormality of metabolism/homeostasis	89910	UBE3B	OMIM:244450
HP:0001939	Abnormality of metabolism/homeostasis	201163	FLCN	OMIM:610883
HP:0001939	Abnormality of metabolism/homeostasis	4982	TNFRSF11B	OMIM:239000
HP:0001939	Abnormality of metabolism/homeostasis	4041	LRP5	OMIM:607634
HP:0001939	Abnormality of metabolism/homeostasis	1491	CTH	OMIM:219500
HP:0001939	Abnormality of metabolism/homeostasis	1491	CTH	ORPHA:212
HP:0001939	Abnormality of metabolism/homeostasis	79705	LRRK1	OMIM:615198
HP:0001939	Abnormality of metabolism/homeostasis	5279	PIGC	OMIM:617816
HP:0001939	Abnormality of metabolism/homeostasis	128869	PIGU	OMIM:618590
HP:0001939	Abnormality of metabolism/homeostasis	8792	TNFRSF11A	OMIM:174810
HP:0001939	Abnormality of metabolism/homeostasis	8792	TNFRSF11A	OMIM:602080
HP:0001939	Abnormality of metabolism/homeostasis	10026	PIGK	OMIM:618879
HP:0001939	Abnormality of metabolism/homeostasis	55650	PIGV	OMIM:239300
HP:0001939	Abnormality of metabolism/homeostasis	55650	PIGV	ORPHA:247262
HP:0001939	Abnormality of metabolism/homeostasis	84992	PIGY	ORPHA:247262
HP:0001939	Abnormality of metabolism/homeostasis	84992	PIGY	OMIM:616809
HP:0001939	Abnormality of metabolism/homeostasis	84720	PIGO	ORPHA:247262
HP:0001939	Abnormality of metabolism/homeostasis	84720	PIGO	OMIM:614749
HP:0001939	Abnormality of metabolism/homeostasis	93210	PGAP3	ORPHA:247262
HP:0001939	Abnormality of metabolism/homeostasis	93210	PGAP3	OMIM:615716
HP:0001939	Abnormality of metabolism/homeostasis	284098	PIGW	ORPHA:247262
HP:0001939	Abnormality of metabolism/homeostasis	284098	PIGW	OMIM:616025
HP:0001939	Abnormality of metabolism/homeostasis	27315	PGAP2	ORPHA:247262
HP:0001939	Abnormality of metabolism/homeostasis	27315	PGAP2	OMIM:614207
HP:0001939	Abnormality of metabolism/homeostasis	9487	PIGL	ORPHA:247262
HP:0001939	Abnormality of metabolism/homeostasis	9487	PIGL	OMIM:280000
HP:0001939	Abnormality of metabolism/homeostasis	8647	ABCB11	OMIM:601847
HP:0001939	Abnormality of metabolism/homeostasis	8647	ABCB11	OMIM:605479
HP:0001939	Abnormality of metabolism/homeostasis	8647	ABCB11	ORPHA:69665
HP:0001939	Abnormality of metabolism/homeostasis	3178	HNRNPA1	OMIM:615424
HP:0001939	Abnormality of metabolism/homeostasis	3178	HNRNPA1	OMIM:615426
HP:0001939	Abnormality of metabolism/homeostasis	3178	HNRNPA1	ORPHA:52430
HP:0001939	Abnormality of metabolism/homeostasis	3181	HNRNPA2B1	OMIM:615422
HP:0001939	Abnormality of metabolism/homeostasis	3181	HNRNPA2B1	ORPHA:52430
HP:0001939	Abnormality of metabolism/homeostasis	54872	PIGG	OMIM:616917
HP:0001939	Abnormality of metabolism/homeostasis	9842	PLEKHM1	ORPHA:210110
HP:0001939	Abnormality of metabolism/homeostasis	57003	CCDC47	OMIM:618268
HP:0001939	Abnormality of metabolism/homeostasis	94005	PIGS	OMIM:618143
HP:0001939	Abnormality of metabolism/homeostasis	9091	PIGQ	OMIM:618548
HP:0001939	Abnormality of metabolism/homeostasis	80025	PANK2	OMIM:234200
HP:0001939	Abnormality of metabolism/homeostasis	8733	GPAA1	ORPHA:529665
HP:0001939	Abnormality of metabolism/homeostasis	200931	SLC51A	OMIM:619484
HP:0001939	Abnormality of metabolism/homeostasis	5205	ATP8B1	ORPHA:69665
HP:0001939	Abnormality of metabolism/homeostasis	23387	SIK3	OMIM:618162
HP:0001939	Abnormality of metabolism/homeostasis	5557	PRIM1	OMIM:620005
HP:0001939	Abnormality of metabolism/homeostasis	54532	USP53	OMIM:619658
HP:0001939	Abnormality of metabolism/homeostasis	6522	SLC4A2	OMIM:620366
HP:0001939	Abnormality of metabolism/homeostasis	166929	SGMS2	OMIM:126550
HP:0001939	Abnormality of metabolism/homeostasis	60681	FKBP10	OMIM:610968
HP:0001939	Abnormality of metabolism/homeostasis	57592	ZNF687	OMIM:616833
HP:0001939	Abnormality of metabolism/homeostasis	6309	SC5D	OMIM:607330
HP:0001939	Abnormality of metabolism/homeostasis	554	AVPR2	ORPHA:223
HP:0001939	Abnormality of metabolism/homeostasis	554	AVPR2	OMIM:300539
HP:0001939	Abnormality of metabolism/homeostasis	359	AQP2	ORPHA:223
HP:0001939	Abnormality of metabolism/homeostasis	9915	ARNT2	OMIM:615926
HP:0001939	Abnormality of metabolism/homeostasis	1184	CLCN5	OMIM:308990
HP:0001939	Abnormality of metabolism/homeostasis	4867	NPHP1	OMIM:256100
HP:0001939	Abnormality of metabolism/homeostasis	83548	COG3	OMIM:620546
HP:0001939	Abnormality of metabolism/homeostasis	92344	GORAB	OMIM:231070
HP:0001939	Abnormality of metabolism/homeostasis	1576	CYP3A4	OMIM:619073
HP:0001939	Abnormality of metabolism/homeostasis	5251	PHEX	OMIM:307800
HP:0001939	Abnormality of metabolism/homeostasis	79577	CDC73	ORPHA:99880
HP:0001939	Abnormality of metabolism/homeostasis	79577	CDC73	ORPHA:99879
HP:0001939	Abnormality of metabolism/homeostasis	79577	CDC73	ORPHA:143
HP:0001939	Abnormality of metabolism/homeostasis	9365	KL	OMIM:617994
HP:0001939	Abnormality of metabolism/homeostasis	120227	CYP2R1	ORPHA:289157
HP:0001939	Abnormality of metabolism/homeostasis	9247	GCM2	ORPHA:99879
HP:0001939	Abnormality of metabolism/homeostasis	5144	PDE4D	ORPHA:439822
HP:0001939	Abnormality of metabolism/homeostasis	7421	VDR	OMIM:277440
HP:0001939	Abnormality of metabolism/homeostasis	406932	MIR140	OMIM:618618
HP:0001939	Abnormality of metabolism/homeostasis	50964	SOST	OMIM:122860
HP:0001939	Abnormality of metabolism/homeostasis	2055	CLN8	ORPHA:1947
HP:0001939	Abnormality of metabolism/homeostasis	1203	CLN5	OMIM:256731
HP:0001939	Abnormality of metabolism/homeostasis	1201	CLN3	OMIM:204200
HP:0001939	Abnormality of metabolism/homeostasis	54982	CLN6	OMIM:204300
HP:0001939	Abnormality of metabolism/homeostasis	54982	CLN6	OMIM:601780
HP:0001939	Abnormality of metabolism/homeostasis	1200	TPP1	OMIM:204500
HP:0001939	Abnormality of metabolism/homeostasis	80331	DNAJC5	OMIM:162350
HP:0001939	Abnormality of metabolism/homeostasis	154881	KCTD7	OMIM:611726
HP:0001939	Abnormality of metabolism/homeostasis	64170	CARD9	OMIM:212050
HP:0001939	Abnormality of metabolism/homeostasis	3071	NCKAP1L	OMIM:618982
HP:0001939	Abnormality of metabolism/homeostasis	1041	CDSN	ORPHA:90368
HP:0001939	Abnormality of metabolism/homeostasis	1041	CDSN	OMIM:270300
HP:0001939	Abnormality of metabolism/homeostasis	121391	KRT74	ORPHA:90368
HP:0001939	Abnormality of metabolism/homeostasis	3857	KRT9	OMIM:144200
HP:0001939	Abnormality of metabolism/homeostasis	7297	TYK2	OMIM:611521
HP:0001939	Abnormality of metabolism/homeostasis	6868	ADAM17	OMIM:614328
HP:0001939	Abnormality of metabolism/homeostasis	2934	GSN	OMIM:105120
HP:0001939	Abnormality of metabolism/homeostasis	2744	GLS	OMIM:618412
HP:0001939	Abnormality of metabolism/homeostasis	498	ATP5F1A	OMIM:620358
HP:0001939	Abnormality of metabolism/homeostasis	10166	SLC25A15	ORPHA:415
HP:0001939	Abnormality of metabolism/homeostasis	472	ATM	ORPHA:100
HP:0001939	Abnormality of metabolism/homeostasis	6023	RMRP	ORPHA:175
HP:0001939	Abnormality of metabolism/homeostasis	2189	FANCG	OMIM:614082
HP:0001939	Abnormality of metabolism/homeostasis	2189	FANCG	ORPHA:84
HP:0001939	Abnormality of metabolism/homeostasis	2187	FANCB	OMIM:300514
HP:0001939	Abnormality of metabolism/homeostasis	2187	FANCB	ORPHA:84
HP:0001939	Abnormality of metabolism/homeostasis	29128	UHRF1	ORPHA:2268
HP:0001939	Abnormality of metabolism/homeostasis	3070	HELLS	ORPHA:2268
HP:0001939	Abnormality of metabolism/homeostasis	1789	DNMT3B	ORPHA:2268
HP:0001939	Abnormality of metabolism/homeostasis	83879	CDCA7	ORPHA:2268
HP:0001939	Abnormality of metabolism/homeostasis	9841	ZBTB24	ORPHA:2268
HP:0001939	Abnormality of metabolism/homeostasis	641	BLM	OMIM:210900
HP:0001939	Abnormality of metabolism/homeostasis	7518	XRCC4	ORPHA:99812
HP:0001939	Abnormality of metabolism/homeostasis	4683	NBN	ORPHA:647
HP:0001939	Abnormality of metabolism/homeostasis	6948	TCN2	ORPHA:859
HP:0001939	Abnormality of metabolism/homeostasis	672	BRCA1	ORPHA:84
HP:0001939	Abnormality of metabolism/homeostasis	10459	MAD2L2	ORPHA:84
HP:0001939	Abnormality of metabolism/homeostasis	7516	XRCC2	ORPHA:84
HP:0001939	Abnormality of metabolism/homeostasis	29089	UBE2T	ORPHA:84
HP:0001939	Abnormality of metabolism/homeostasis	675	BRCA2	ORPHA:84
HP:0001939	Abnormality of metabolism/homeostasis	55120	FANCL	ORPHA:84
HP:0001939	Abnormality of metabolism/homeostasis	2177	FANCD2	ORPHA:84
HP:0001939	Abnormality of metabolism/homeostasis	2175	FANCA	ORPHA:84
HP:0001939	Abnormality of metabolism/homeostasis	2176	FANCC	ORPHA:84
HP:0001939	Abnormality of metabolism/homeostasis	2178	FANCE	ORPHA:84
HP:0001939	Abnormality of metabolism/homeostasis	2188	FANCF	ORPHA:84
HP:0001939	Abnormality of metabolism/homeostasis	5888	RAD51	ORPHA:84
HP:0001939	Abnormality of metabolism/homeostasis	5889	RAD51C	ORPHA:84
HP:0001939	Abnormality of metabolism/homeostasis	55159	RFWD3	ORPHA:84
HP:0001939	Abnormality of metabolism/homeostasis	83990	BRIP1	ORPHA:84
HP:0001939	Abnormality of metabolism/homeostasis	57697	FANCM	ORPHA:84
HP:0001939	Abnormality of metabolism/homeostasis	79728	PALB2	ORPHA:84
HP:0001939	Abnormality of metabolism/homeostasis	84464	SLX4	ORPHA:84
HP:0001939	Abnormality of metabolism/homeostasis	2072	ERCC4	ORPHA:84
HP:0001939	Abnormality of metabolism/homeostasis	55215	FANCI	ORPHA:84
HP:0001939	Abnormality of metabolism/homeostasis	338657	CENATAC	OMIM:620153
HP:0001939	Abnormality of metabolism/homeostasis	64858	DCLRE1B	OMIM:620133
HP:0001939	Abnormality of metabolism/homeostasis	1161	ERCC8	OMIM:614621
HP:0001939	Abnormality of metabolism/homeostasis	1161	ERCC8	OMIM:216400
HP:0001939	Abnormality of metabolism/homeostasis	2074	ERCC6	OMIM:133540
HP:0001939	Abnormality of metabolism/homeostasis	2074	ERCC6	OMIM:600630
HP:0001939	Abnormality of metabolism/homeostasis	57654	UVSSA	OMIM:614640
HP:0001939	Abnormality of metabolism/homeostasis	2071	ERCC3	OMIM:610651
HP:0001939	Abnormality of metabolism/homeostasis	2395	FXN	OMIM:229300
HP:0001939	Abnormality of metabolism/homeostasis	28976	ACAD9	ORPHA:99901
HP:0001939	Abnormality of metabolism/homeostasis	4143	MAT1A	OMIM:250850
HP:0001939	Abnormality of metabolism/homeostasis	29925	GMPPB	OMIM:615350
HP:0001939	Abnormality of metabolism/homeostasis	29925	GMPPB	OMIM:615351
HP:0001939	Abnormality of metabolism/homeostasis	29925	GMPPB	OMIM:615352
HP:0001939	Abnormality of metabolism/homeostasis	29925	GMPPB	ORPHA:588
HP:0001939	Abnormality of metabolism/homeostasis	29925	GMPPB	ORPHA:370968
HP:0001939	Abnormality of metabolism/homeostasis	29925	GMPPB	ORPHA:370959
HP:0001939	Abnormality of metabolism/homeostasis	29925	GMPPB	ORPHA:353327
HP:0001939	Abnormality of metabolism/homeostasis	29925	GMPPB	ORPHA:363623
HP:0001939	Abnormality of metabolism/homeostasis	3094	HINT1	ORPHA:324442
HP:0001939	Abnormality of metabolism/homeostasis	3094	HINT1	OMIM:137200
HP:0001939	Abnormality of metabolism/homeostasis	8106	PABPN1	ORPHA:270
HP:0001939	Abnormality of metabolism/homeostasis	8106	PABPN1	OMIM:164300
HP:0001939	Abnormality of metabolism/homeostasis	5361	PLXNA1	OMIM:619955
HP:0001939	Abnormality of metabolism/homeostasis	55733	HHAT	OMIM:600092
HP:0001939	Abnormality of metabolism/homeostasis	825	CAPN3	OMIM:253600
HP:0001939	Abnormality of metabolism/homeostasis	825	CAPN3	ORPHA:267
HP:0001939	Abnormality of metabolism/homeostasis	825	CAPN3	OMIM:618129
HP:0001939	Abnormality of metabolism/homeostasis	22947	DUX4L1	ORPHA:269
HP:0001939	Abnormality of metabolism/homeostasis	2483	FRG1	ORPHA:269
HP:0001939	Abnormality of metabolism/homeostasis	2483	FRG1	OMIM:158900
HP:0001939	Abnormality of metabolism/homeostasis	23347	SMCHD1	ORPHA:269
HP:0001939	Abnormality of metabolism/homeostasis	100288687	DUX4	ORPHA:269
HP:0001939	Abnormality of metabolism/homeostasis	9499	MYOT	ORPHA:266
HP:0001939	Abnormality of metabolism/homeostasis	9499	MYOT	OMIM:609200
HP:0001939	Abnormality of metabolism/homeostasis	9499	MYOT	ORPHA:98911
HP:0001939	Abnormality of metabolism/homeostasis	311	ANXA11	OMIM:619733
HP:0001939	Abnormality of metabolism/homeostasis	6445	SGCG	OMIM:253700
HP:0001939	Abnormality of metabolism/homeostasis	6445	SGCG	ORPHA:353
HP:0001939	Abnormality of metabolism/homeostasis	9217	VAPB	ORPHA:209335
HP:0001939	Abnormality of metabolism/homeostasis	83636	C19orf12	OMIM:614298
HP:0001939	Abnormality of metabolism/homeostasis	844	CASQ1	OMIM:616231
HP:0001939	Abnormality of metabolism/homeostasis	844	CASQ1	ORPHA:88635
HP:0001939	Abnormality of metabolism/homeostasis	23299	BICD2	OMIM:615290
HP:0001939	Abnormality of metabolism/homeostasis	6709	SPTAN1	OMIM:620528
HP:0001939	Abnormality of metabolism/homeostasis	6240	RRM1	OMIM:620647
HP:0001939	Abnormality of metabolism/homeostasis	4633	MYL2	OMIM:619424
HP:0001939	Abnormality of metabolism/homeostasis	51693	TRAPPC2L	OMIM:618331
HP:0001939	Abnormality of metabolism/homeostasis	58497	PRUNE1	ORPHA:544469
HP:0001939	Abnormality of metabolism/homeostasis	389827	MYMK	OMIM:254940
HP:0001939	Abnormality of metabolism/homeostasis	353116	RILPL1	OMIM:619790
HP:0001939	Abnormality of metabolism/homeostasis	23516	SLC39A14	OMIM:617013
HP:0001939	Abnormality of metabolism/homeostasis	160418	TMTC3	OMIM:617255
HP:0001939	Abnormality of metabolism/homeostasis	79912	PYROXD1	OMIM:617258
HP:0001939	Abnormality of metabolism/homeostasis	203547	VMA21	OMIM:310440
HP:0001939	Abnormality of metabolism/homeostasis	7443	VRK1	OMIM:620542
HP:0001939	Abnormality of metabolism/homeostasis	6442	SGCA	OMIM:608099
HP:0001939	Abnormality of metabolism/homeostasis	6442	SGCA	ORPHA:62
HP:0001939	Abnormality of metabolism/homeostasis	10049	DNAJB6	OMIM:603511
HP:0001939	Abnormality of metabolism/homeostasis	3714	JAG2	OMIM:619566
HP:0001939	Abnormality of metabolism/homeostasis	63895	PIEZO2	OMIM:617146
HP:0001939	Abnormality of metabolism/homeostasis	6904	TBCD	ORPHA:496641
HP:0001939	Abnormality of metabolism/homeostasis	6904	TBCD	OMIM:617193
HP:0001939	Abnormality of metabolism/homeostasis	11080	DNAJB4	OMIM:620326
HP:0001939	Abnormality of metabolism/homeostasis	2010	EMD	OMIM:310300
HP:0001939	Abnormality of metabolism/homeostasis	2010	EMD	ORPHA:98863
HP:0001939	Abnormality of metabolism/homeostasis	65260	COA7	OMIM:618387
HP:0001939	Abnormality of metabolism/homeostasis	26092	TOR1AIP1	OMIM:617072
HP:0001939	Abnormality of metabolism/homeostasis	1073	CFL2	OMIM:610687
HP:0001939	Abnormality of metabolism/homeostasis	1073	CFL2	ORPHA:171436
HP:0001939	Abnormality of metabolism/homeostasis	2801	GOLGA2	OMIM:620240
HP:0001939	Abnormality of metabolism/homeostasis	125170	MIEF2	OMIM:619024
HP:0001939	Abnormality of metabolism/homeostasis	23224	SYNE2	OMIM:612999
HP:0001939	Abnormality of metabolism/homeostasis	23224	SYNE2	ORPHA:98853
HP:0001939	Abnormality of metabolism/homeostasis	9987	HNRNPDL	OMIM:609115
HP:0001939	Abnormality of metabolism/homeostasis	9782	MATR3	OMIM:606070
HP:0001939	Abnormality of metabolism/homeostasis	7138	TNNT1	OMIM:620386
HP:0001939	Abnormality of metabolism/homeostasis	6840	SVIL	OMIM:619040
HP:0001939	Abnormality of metabolism/homeostasis	2673	GFPT1	ORPHA:353327
HP:0001939	Abnormality of metabolism/homeostasis	3736	KCNA1	ORPHA:972
HP:0001939	Abnormality of metabolism/homeostasis	3736	KCNA1	OMIM:160120
HP:0001939	Abnormality of metabolism/homeostasis	729359	PLIN4	OMIM:601846
HP:0001939	Abnormality of metabolism/homeostasis	29967	LRP12	OMIM:164310
HP:0001939	Abnormality of metabolism/homeostasis	4151	MB	OMIM:620286
HP:0001939	Abnormality of metabolism/homeostasis	374393	FAM111B	OMIM:615704
HP:0001939	Abnormality of metabolism/homeostasis	4744	NEFH	OMIM:616924
HP:0001939	Abnormality of metabolism/homeostasis	1299	COL9A3	OMIM:600969
HP:0001939	Abnormality of metabolism/homeostasis	5165	PDK3	ORPHA:352675
HP:0001939	Abnormality of metabolism/homeostasis	11149	POPDC1	OMIM:616812
HP:0001939	Abnormality of metabolism/homeostasis	122622	ADSS1	ORPHA:482601
HP:0001939	Abnormality of metabolism/homeostasis	55679	LIMS2	OMIM:616827
HP:0001939	Abnormality of metabolism/homeostasis	3679	ITGA7	OMIM:613204
HP:0001939	Abnormality of metabolism/homeostasis	79188	TMEM43	ORPHA:98853
HP:0001939	Abnormality of metabolism/homeostasis	132	ADK	OMIM:614300
HP:0001939	Abnormality of metabolism/homeostasis	55033	FKBP14	ORPHA:300179
HP:0001939	Abnormality of metabolism/homeostasis	10755	GIPC1	OMIM:618940
HP:0001939	Abnormality of metabolism/homeostasis	3920	LAMP2	OMIM:300257
HP:0001939	Abnormality of metabolism/homeostasis	4747	NEFL	OMIM:617882
HP:0001939	Abnormality of metabolism/homeostasis	9907	AP5Z1	ORPHA:306511
HP:0001939	Abnormality of metabolism/homeostasis	51763	INPP5K	OMIM:617404
HP:0001939	Abnormality of metabolism/homeostasis	8449	DHX16	OMIM:618733
HP:0001939	Abnormality of metabolism/homeostasis	284217	LAMA1	ORPHA:370022
HP:0001939	Abnormality of metabolism/homeostasis	7174	TPP2	OMIM:619220
HP:0001939	Abnormality of metabolism/homeostasis	4878	NPPA	OMIM:615745
HP:0001939	Abnormality of metabolism/homeostasis	249	ALPL	OMIM:146300
HP:0001939	Abnormality of metabolism/homeostasis	249	ALPL	OMIM:241500
HP:0001939	Abnormality of metabolism/homeostasis	249	ALPL	OMIM:241510
HP:0001939	Abnormality of metabolism/homeostasis	2937	GSS	OMIM:231900
HP:0001939	Abnormality of metabolism/homeostasis	3029	HAGH	OMIM:614033
HP:0001939	Abnormality of metabolism/homeostasis	10229	COQ7	OMIM:616733
HP:0001939	Abnormality of metabolism/homeostasis	79158	GNPTAB	OMIM:252600
HP:0001939	Abnormality of metabolism/homeostasis	79158	GNPTAB	OMIM:252500
HP:0001939	Abnormality of metabolism/homeostasis	2876	GPX1	OMIM:614164
HP:0001939	Abnormality of metabolism/homeostasis	5048	PAFAH1B1	ORPHA:95232
HP:0001939	Abnormality of metabolism/homeostasis	7319	UBE2A	ORPHA:163956
HP:0001939	Abnormality of metabolism/homeostasis	55388	MCM10	OMIM:619313
HP:0001939	Abnormality of metabolism/homeostasis	54914	FOCAD	OMIM:619991
HP:0001939	Abnormality of metabolism/homeostasis	331	XIAP	OMIM:300635
HP:0001939	Abnormality of metabolism/homeostasis	55240	STEAP3	OMIM:615234
HP:0001939	Abnormality of metabolism/homeostasis	55240	STEAP3	ORPHA:300298
HP:0001939	Abnormality of metabolism/homeostasis	1356	CP	OMIM:604290
HP:0001939	Abnormality of metabolism/homeostasis	1356	CP	ORPHA:48818
HP:0001939	Abnormality of metabolism/homeostasis	148738	HJV	OMIM:602390
HP:0001939	Abnormality of metabolism/homeostasis	148738	HJV	ORPHA:79230
HP:0001939	Abnormality of metabolism/homeostasis	2495	FTH1	OMIM:615517
HP:0001939	Abnormality of metabolism/homeostasis	9780	PIEZO1	OMIM:194380
HP:0001939	Abnormality of metabolism/homeostasis	9780	PIEZO1	ORPHA:3202
HP:0001939	Abnormality of metabolism/homeostasis	7036	TFR2	OMIM:604250
HP:0001939	Abnormality of metabolism/homeostasis	8676	STX11	ORPHA:540
HP:0001939	Abnormality of metabolism/homeostasis	8676	STX11	OMIM:603552
HP:0001939	Abnormality of metabolism/homeostasis	201294	UNC13D	ORPHA:540
HP:0001939	Abnormality of metabolism/homeostasis	6813	STXBP2	ORPHA:540
HP:0001939	Abnormality of metabolism/homeostasis	6813	STXBP2	OMIM:613101
HP:0001939	Abnormality of metabolism/homeostasis	58484	NLRC4	OMIM:616050
HP:0001939	Abnormality of metabolism/homeostasis	617	BCS1L	OMIM:603358
HP:0001939	Abnormality of metabolism/homeostasis	617	BCS1L	ORPHA:53693
HP:0001939	Abnormality of metabolism/homeostasis	6573	SLC19A1	OMIM:601775
HP:0001939	Abnormality of metabolism/homeostasis	6573	SLC19A1	OMIM:620603
HP:0001939	Abnormality of metabolism/homeostasis	84868	HAVCR2	OMIM:618398
HP:0001939	Abnormality of metabolism/homeostasis	3162	HMOX1	OMIM:614034
HP:0001939	Abnormality of metabolism/homeostasis	54977	SLC25A38	OMIM:205950
HP:0001939	Abnormality of metabolism/homeostasis	5294	PIK3CG	OMIM:619802
HP:0001939	Abnormality of metabolism/homeostasis	30061	SLC40A1	OMIM:606069
HP:0001939	Abnormality of metabolism/homeostasis	79989	IFT56	OMIM:619534
HP:0001939	Abnormality of metabolism/homeostasis	51218	GLRX5	OMIM:616860
HP:0001939	Abnormality of metabolism/homeostasis	3458	IFNG	OMIM:618963
HP:0001939	Abnormality of metabolism/homeostasis	6773	STAT2	OMIM:618886
HP:0001939	Abnormality of metabolism/homeostasis	654	BMP6	ORPHA:465508
HP:0001939	Abnormality of metabolism/homeostasis	654	BMP6	OMIM:620121
HP:0001939	Abnormality of metabolism/homeostasis	3077	HFE	ORPHA:465508
HP:0001939	Abnormality of metabolism/homeostasis	3077	HFE	OMIM:235200
HP:0001939	Abnormality of metabolism/homeostasis	57817	HAMP	OMIM:613313
HP:0001939	Abnormality of metabolism/homeostasis	57817	HAMP	ORPHA:79230
HP:0001939	Abnormality of metabolism/homeostasis	6521	SLC4A1	ORPHA:3202
HP:0001939	Abnormality of metabolism/homeostasis	3783	KCNN4	ORPHA:3202
HP:0001939	Abnormality of metabolism/homeostasis	5313	PKLR	ORPHA:766
HP:0001939	Abnormality of metabolism/homeostasis	1130	LYST	ORPHA:167
HP:0001939	Abnormality of metabolism/homeostasis	3043	HBB	ORPHA:231249
HP:0001939	Abnormality of metabolism/homeostasis	2629	GBA1	ORPHA:77259
HP:0001939	Abnormality of metabolism/homeostasis	950	SCARB2	ORPHA:77259
HP:0001939	Abnormality of metabolism/homeostasis	4613	MYCN	ORPHA:635
HP:0001939	Abnormality of metabolism/homeostasis	238	ALK	ORPHA:635
HP:0001939	Abnormality of metabolism/homeostasis	389421	LIN28B	ORPHA:635
HP:0001939	Abnormality of metabolism/homeostasis	4004	LMO1	ORPHA:635
HP:0001939	Abnormality of metabolism/homeostasis	57531	HACE1	ORPHA:635
HP:0001939	Abnormality of metabolism/homeostasis	650	BMP2	OMIM:235200
HP:0001939	Abnormality of metabolism/homeostasis	497661	C18orf32	OMIM:619985
HP:0001939	Abnormality of metabolism/homeostasis	1786	DNMT1	ORPHA:314404
HP:0001939	Abnormality of metabolism/homeostasis	26275	HIBCH	ORPHA:88639
HP:0001939	Abnormality of metabolism/homeostasis	204	AK2	ORPHA:33355
HP:0001939	Abnormality of metabolism/homeostasis	3000	GUCY2D	OMIM:204000
HP:0001939	Abnormality of metabolism/homeostasis	80207	OPA3	OMIM:258501
HP:0001939	Abnormality of metabolism/homeostasis	131118	DNAJC19	OMIM:610198
HP:0001939	Abnormality of metabolism/homeostasis	6530	SLC6A2	OMIM:604715
HP:0001939	Abnormality of metabolism/homeostasis	10577	NPC2	OMIM:607625
HP:0001939	Abnormality of metabolism/homeostasis	10483	SEC23B	OMIM:224100
HP:0001939	Abnormality of metabolism/homeostasis	146059	CDAN1	OMIM:224120
HP:0001939	Abnormality of metabolism/homeostasis	435	ASL	ORPHA:23
HP:0001939	Abnormality of metabolism/homeostasis	435	ASL	OMIM:207900
HP:0001939	Abnormality of metabolism/homeostasis	6505	SLC1A1	OMIM:222730
HP:0001939	Abnormality of metabolism/homeostasis	51095	TRNT1	OMIM:616084
HP:0001939	Abnormality of metabolism/homeostasis	1373	CPS1	ORPHA:147
HP:0001939	Abnormality of metabolism/homeostasis	4141	MARS1	OMIM:615486
HP:0001939	Abnormality of metabolism/homeostasis	4942	OAT	ORPHA:414
HP:0001939	Abnormality of metabolism/homeostasis	10560	SLC19A2	OMIM:249270
HP:0001939	Abnormality of metabolism/homeostasis	7084	TK2	OMIM:609560
HP:0001939	Abnormality of metabolism/homeostasis	50628	GEMIN4	OMIM:617913
HP:0001939	Abnormality of metabolism/homeostasis	1497	CTNS	OMIM:219800
HP:0001939	Abnormality of metabolism/homeostasis	1497	CTNS	OMIM:219900
HP:0001939	Abnormality of metabolism/homeostasis	6999	TDO2	OMIM:600627
HP:0001939	Abnormality of metabolism/homeostasis	79648	MCPH1	OMIM:251200
HP:0001939	Abnormality of metabolism/homeostasis	2778	GNAS	OMIM:612462
HP:0001939	Abnormality of metabolism/homeostasis	2778	GNAS	OMIM:603233
HP:0001939	Abnormality of metabolism/homeostasis	2778	GNAS	OMIM:103580
HP:0001939	Abnormality of metabolism/homeostasis	2778	GNAS	ORPHA:94089
HP:0001939	Abnormality of metabolism/homeostasis	2778	GNAS	ORPHA:79443
HP:0001939	Abnormality of metabolism/homeostasis	2778	GNAS	ORPHA:79444
HP:0001939	Abnormality of metabolism/homeostasis	149775	GNAS-AS1	OMIM:603233
HP:0001939	Abnormality of metabolism/homeostasis	8675	STX16	OMIM:603233
HP:0001939	Abnormality of metabolism/homeostasis	8675	STX16	ORPHA:94089
HP:0001939	Abnormality of metabolism/homeostasis	200942	KLHDC8B	OMIM:236000
HP:0001939	Abnormality of metabolism/homeostasis	4668	NAGA	OMIM:609241
HP:0001939	Abnormality of metabolism/homeostasis	4668	NAGA	OMIM:609242
HP:0001939	Abnormality of metabolism/homeostasis	3073	HEXA	OMIM:272800
HP:0001939	Abnormality of metabolism/homeostasis	2760	GM2A	OMIM:272750
HP:0001939	Abnormality of metabolism/homeostasis	55788	LMBRD1	OMIM:277380
HP:0001939	Abnormality of metabolism/homeostasis	5826	ABCD4	OMIM:614857
HP:0001939	Abnormality of metabolism/homeostasis	27249	MMADHC	OMIM:277410
HP:0001939	Abnormality of metabolism/homeostasis	2767	GNA11	OMIM:145981
HP:0001939	Abnormality of metabolism/homeostasis	1175	AP2S1	OMIM:600740
HP:0001939	Abnormality of metabolism/homeostasis	55811	ADCY10	ORPHA:2197
HP:0001939	Abnormality of metabolism/homeostasis	11136	SLC7A9	OMIM:220100
HP:0001939	Abnormality of metabolism/homeostasis	217	ALDH2	OMIM:610251
HP:0001939	Abnormality of metabolism/homeostasis	514	ATP5F1E	ORPHA:254913
HP:0001939	Abnormality of metabolism/homeostasis	514	ATP5F1E	OMIM:614053
HP:0001939	Abnormality of metabolism/homeostasis	84833	ATP5MK	ORPHA:254913
HP:0001939	Abnormality of metabolism/homeostasis	55750	AGK	OMIM:212350
HP:0001939	Abnormality of metabolism/homeostasis	55210	ATAD3A	ORPHA:496790
HP:0001939	Abnormality of metabolism/homeostasis	54968	TMEM70	OMIM:614052
HP:0001939	Abnormality of metabolism/homeostasis	54968	TMEM70	ORPHA:1194
HP:0001939	Abnormality of metabolism/homeostasis	84947	SERAC1	OMIM:614739
HP:0001939	Abnormality of metabolism/homeostasis	2990	GUSB	OMIM:253220
HP:0001939	Abnormality of metabolism/homeostasis	65082	VPS33A	ORPHA:505248
HP:0001939	Abnormality of metabolism/homeostasis	3425	IDUA	OMIM:607014
HP:0001939	Abnormality of metabolism/homeostasis	2720	GLB1	ORPHA:79255
HP:0001939	Abnormality of metabolism/homeostasis	9620	CELSR1	OMIM:619319
HP:0001939	Abnormality of metabolism/homeostasis	2332	FMR1	ORPHA:908
HP:0001939	Abnormality of metabolism/homeostasis	2332	FMR1	OMIM:300624
HP:0001939	Abnormality of metabolism/homeostasis	84548	TMEM185A	ORPHA:100974
HP:0001939	Abnormality of metabolism/homeostasis	3123	HLA-DRB1	ORPHA:397
HP:0001939	Abnormality of metabolism/homeostasis	3123	HLA-DRB1	ORPHA:85414
HP:0001939	Abnormality of metabolism/homeostasis	3123	HLA-DRB1	OMIM:181000
HP:0001939	Abnormality of metabolism/homeostasis	8974	P4HA2	ORPHA:397
HP:0001939	Abnormality of metabolism/homeostasis	9663	LPIN2	OMIM:609628
HP:0001939	Abnormality of metabolism/homeostasis	144811	LACC1	ORPHA:85414
HP:0001939	Abnormality of metabolism/homeostasis	4282	MIF	ORPHA:85414
HP:0001939	Abnormality of metabolism/homeostasis	3560	IL2RB	ORPHA:85410
HP:0001939	Abnormality of metabolism/homeostasis	3560	IL2RB	ORPHA:85408
HP:0001939	Abnormality of metabolism/homeostasis	79722	ANKRD55	ORPHA:85410
HP:0001939	Abnormality of metabolism/homeostasis	79722	ANKRD55	ORPHA:85408
HP:0001939	Abnormality of metabolism/homeostasis	919	CD247	ORPHA:85410
HP:0001939	Abnormality of metabolism/homeostasis	919	CD247	ORPHA:85408
HP:0001939	Abnormality of metabolism/homeostasis	3559	IL2RA	ORPHA:85410
HP:0001939	Abnormality of metabolism/homeostasis	3559	IL2RA	ORPHA:85408
HP:0001939	Abnormality of metabolism/homeostasis	5771	PTPN2	ORPHA:85410
HP:0001939	Abnormality of metabolism/homeostasis	5771	PTPN2	ORPHA:85408
HP:0001939	Abnormality of metabolism/homeostasis	27178	IL37	OMIM:619398
HP:0001939	Abnormality of metabolism/homeostasis	4598	MVK	OMIM:260920
HP:0001939	Abnormality of metabolism/homeostasis	4598	MVK	OMIM:610377
HP:0001939	Abnormality of metabolism/homeostasis	4598	MVK	ORPHA:343
HP:0001939	Abnormality of metabolism/homeostasis	6696	SPP1	ORPHA:93552
HP:0001939	Abnormality of metabolism/homeostasis	6303	SAT1	ORPHA:93552
HP:0001939	Abnormality of metabolism/homeostasis	3654	IRAK1	ORPHA:93552
HP:0001939	Abnormality of metabolism/homeostasis	55315	SLC29A3	OMIM:602782
HP:0001939	Abnormality of metabolism/homeostasis	843	CASP10	OMIM:603909
HP:0001939	Abnormality of metabolism/homeostasis	81858	SHARPIN	OMIM:620795
HP:0001939	Abnormality of metabolism/homeostasis	340061	STING1	OMIM:615934
HP:0001939	Abnormality of metabolism/homeostasis	10095	ARPC1B	OMIM:617718
HP:0001939	Abnormality of metabolism/homeostasis	713	C1QB	OMIM:620321
HP:0001939	Abnormality of metabolism/homeostasis	64127	NOD2	OMIM:617321
HP:0001939	Abnormality of metabolism/homeostasis	29775	CARD10	OMIM:619632
HP:0001939	Abnormality of metabolism/homeostasis	11277	TREX1	OMIM:192315
HP:0001939	Abnormality of metabolism/homeostasis	11277	TREX1	OMIM:610448
HP:0001939	Abnormality of metabolism/homeostasis	3702	ITK	OMIM:613011
HP:0001939	Abnormality of metabolism/homeostasis	5580	PRKCD	OMIM:615559
HP:0001939	Abnormality of metabolism/homeostasis	1493	CTLA4	ORPHA:900
HP:0001939	Abnormality of metabolism/homeostasis	3115	HLA-DPB1	ORPHA:900
HP:0001939	Abnormality of metabolism/homeostasis	5657	PRTN3	ORPHA:900
HP:0001939	Abnormality of metabolism/homeostasis	3113	HLA-DPA1	ORPHA:900
HP:0001939	Abnormality of metabolism/homeostasis	7040	TGFB1	ORPHA:1328
HP:0001939	Abnormality of metabolism/homeostasis	130340	AP1S3	ORPHA:247353
HP:0001939	Abnormality of metabolism/homeostasis	26525	IL36RN	ORPHA:247353
HP:0001939	Abnormality of metabolism/homeostasis	57169	ZNFX1	OMIM:619644
HP:0001939	Abnormality of metabolism/homeostasis	1314	COPA	OMIM:616414
HP:0001939	Abnormality of metabolism/homeostasis	51816	ADA2	OMIM:615688
HP:0001939	Abnormality of metabolism/homeostasis	3557	IL1RN	OMIM:612852
HP:0001939	Abnormality of metabolism/homeostasis	91662	NLRP12	OMIM:611762
HP:0001939	Abnormality of metabolism/homeostasis	5335	PLCG1	OMIM:620514
HP:0001939	Abnormality of metabolism/homeostasis	55072	RNF31	OMIM:620632
HP:0001939	Abnormality of metabolism/homeostasis	3554	IL1R1	OMIM:259680
HP:0001939	Abnormality of metabolism/homeostasis	51371	POMP	OMIM:618048
HP:0001939	Abnormality of metabolism/homeostasis	5692	PSMB4	OMIM:617591
HP:0001939	Abnormality of metabolism/homeostasis	3593	IL12B	ORPHA:3287
HP:0001939	Abnormality of metabolism/homeostasis	6945	MLX	ORPHA:3287
HP:0001939	Abnormality of metabolism/homeostasis	6583	SLC22A4	OMIM:180300
HP:0001939	Abnormality of metabolism/homeostasis	4261	CIITA	OMIM:180300
HP:0001939	Abnormality of metabolism/homeostasis	51744	CD244	OMIM:180300
HP:0001939	Abnormality of metabolism/homeostasis	4795	NFKBIL1	OMIM:180300
HP:0001939	Abnormality of metabolism/homeostasis	2000	ELF4	OMIM:301074
HP:0001939	Abnormality of metabolism/homeostasis	4615	MYD88	ORPHA:33226
HP:0001939	Abnormality of metabolism/homeostasis	4689	NCF4	OMIM:613960
HP:0001939	Abnormality of metabolism/homeostasis	5696	PSMB8	OMIM:256040
HP:0001939	Abnormality of metabolism/homeostasis	4067	LYN	OMIM:620376
HP:0001939	Abnormality of metabolism/homeostasis	2821	GPI	OMIM:613470
HP:0001939	Abnormality of metabolism/homeostasis	10243	GPHN	OMIM:615501
HP:0001939	Abnormality of metabolism/homeostasis	6005	RHAG	OMIM:185000
HP:0001939	Abnormality of metabolism/homeostasis	4337	MOCS1	OMIM:252150
HP:0001939	Abnormality of metabolism/homeostasis	2328	FMO3	OMIM:602079
HP:0001939	Abnormality of metabolism/homeostasis	2328	FMO3	ORPHA:468726
HP:0001939	Abnormality of metabolism/homeostasis	157570	ESCO2	OMIM:268300
HP:0001939	Abnormality of metabolism/homeostasis	8573	CASK	OMIM:300908
HP:0001939	Abnormality of metabolism/homeostasis	2539	G6PD	OMIM:300908
HP:0001939	Abnormality of metabolism/homeostasis	51251	NT5C3A	OMIM:266120
HP:0001939	Abnormality of metabolism/homeostasis	101101692	HELLPAR	ORPHA:244242
HP:0001939	Abnormality of metabolism/homeostasis	6748	SSR4	OMIM:300934
HP:0001939	Abnormality of metabolism/homeostasis	79868	ALG13	OMIM:300884
HP:0001939	Abnormality of metabolism/homeostasis	91869	RFT1	OMIM:612015
HP:0001939	Abnormality of metabolism/homeostasis	26235	FBXL4	OMIM:615471
HP:0001939	Abnormality of metabolism/homeostasis	197257	LDHD	OMIM:245450
HP:0001939	Abnormality of metabolism/homeostasis	54704	PDP1	ORPHA:79246
HP:0001939	Abnormality of metabolism/homeostasis	51601	LIPT1	OMIM:616299
HP:0001939	Abnormality of metabolism/homeostasis	9054	NFS1	OMIM:619386
HP:0001939	Abnormality of metabolism/homeostasis	89874	SLC25A21	OMIM:618811
HP:0001939	Abnormality of metabolism/homeostasis	79736	TEFM	OMIM:620451
HP:0001939	Abnormality of metabolism/homeostasis	2799	GNS	OMIM:252940
HP:0001939	Abnormality of metabolism/homeostasis	1806	DPYD	OMIM:274270
HP:0001939	Abnormality of metabolism/homeostasis	1806	DPYD	ORPHA:1675
HP:0001939	Abnormality of metabolism/homeostasis	4247	MGAT2	ORPHA:79329
HP:0001939	Abnormality of metabolism/homeostasis	4929	NR4A2	ORPHA:98808
HP:0001939	Abnormality of metabolism/homeostasis	4929	NR4A2	OMIM:619911
HP:0001939	Abnormality of metabolism/homeostasis	3615	IMPDH2	ORPHA:98808
HP:0001939	Abnormality of metabolism/homeostasis	55163	PNPO	ORPHA:79096
HP:0001939	Abnormality of metabolism/homeostasis	55163	PNPO	OMIM:610090
HP:0001939	Abnormality of metabolism/homeostasis	23308	ICOSLG	OMIM:620825
HP:0001939	Abnormality of metabolism/homeostasis	113235	SLC46A1	ORPHA:90045
HP:0001939	Abnormality of metabolism/homeostasis	114803	MYSM1	OMIM:618116
HP:0001939	Abnormality of metabolism/homeostasis	56259	CTNNBL1	OMIM:619846
HP:0001939	Abnormality of metabolism/homeostasis	79840	NHEJ1	ORPHA:169079
HP:0001939	Abnormality of metabolism/homeostasis	7037	TFRC	OMIM:616740
HP:0001939	Abnormality of metabolism/homeostasis	7852	CXCR4	OMIM:193670
HP:0001939	Abnormality of metabolism/homeostasis	7852	CXCR4	ORPHA:51636
HP:0001939	Abnormality of metabolism/homeostasis	9839	ZEB2	ORPHA:261552
HP:0001939	Abnormality of metabolism/homeostasis	9839	ZEB2	ORPHA:261537
HP:0001939	Abnormality of metabolism/homeostasis	4478	MSN	OMIM:300988
HP:0001939	Abnormality of metabolism/homeostasis	146206	CARMIL2	OMIM:618131
HP:0001939	Abnormality of metabolism/homeostasis	57217	TTC7A	OMIM:243150
HP:0001939	Abnormality of metabolism/homeostasis	4796	TONSL	ORPHA:93357
HP:0001939	Abnormality of metabolism/homeostasis	1457	CSNK2A1	OMIM:617062
HP:0001939	Abnormality of metabolism/homeostasis	4780	NFE2L2	OMIM:617744
HP:0001939	Abnormality of metabolism/homeostasis	6117	RPA1	OMIM:619767
HP:0001939	Abnormality of metabolism/homeostasis	4938	OAS1	OMIM:618042
HP:0001939	Abnormality of metabolism/homeostasis	10625	IVNS1ABP	OMIM:618969
HP:0001939	Abnormality of metabolism/homeostasis	219285	SAMD9L	ORPHA:2585
HP:0001939	Abnormality of metabolism/homeostasis	59067	IL21	OMIM:615767
HP:0001939	Abnormality of metabolism/homeostasis	374354	NHLRC2	OMIM:618278
HP:0001939	Abnormality of metabolism/homeostasis	6651	SON	ORPHA:500150
HP:0001939	Abnormality of metabolism/homeostasis	8884	SLC5A6	OMIM:618973
HP:0001939	Abnormality of metabolism/homeostasis	84888	SPPL2A	OMIM:619549
HP:0001939	Abnormality of metabolism/homeostasis	6898	TAT	ORPHA:28378
HP:0001939	Abnormality of metabolism/homeostasis	875	CBS	ORPHA:394
HP:0001939	Abnormality of metabolism/homeostasis	2068	ERCC2	ORPHA:220295
HP:0001939	Abnormality of metabolism/homeostasis	2073	ERCC5	ORPHA:220295
HP:0001939	Abnormality of metabolism/homeostasis	55532	SLC30A10	ORPHA:309854
HP:0001939	Abnormality of metabolism/homeostasis	3074	HEXB	OMIM:268800
HP:0001939	Abnormality of metabolism/homeostasis	6575	SLC20A2	OMIM:213600
HP:0001939	Abnormality of metabolism/homeostasis	1185	CLCN6	OMIM:619173
HP:0001939	Abnormality of metabolism/homeostasis	403	ARL3	OMIM:618161
HP:0001939	Abnormality of metabolism/homeostasis	51360	MBTPS2	ORPHA:2273
HP:0001939	Abnormality of metabolism/homeostasis	8567	MADD	OMIM:619004
HP:0001939	Abnormality of metabolism/homeostasis	3977	LIFR	OMIM:601559
HP:0001939	Abnormality of metabolism/homeostasis	54681	P4HTM	OMIM:618493
HP:0001939	Abnormality of metabolism/homeostasis	8929	PHOX2B	OMIM:209880
HP:0001939	Abnormality of metabolism/homeostasis	84818	IL17RC	ORPHA:1334
HP:0001939	Abnormality of metabolism/homeostasis	64581	CLEC7A	ORPHA:1334
HP:0001939	Abnormality of metabolism/homeostasis	10758	TRAF3IP2	ORPHA:1334
HP:0001939	Abnormality of metabolism/homeostasis	112744	IL17F	ORPHA:1334
HP:0001939	Abnormality of metabolism/homeostasis	4287	ATXN3	ORPHA:276238
HP:0001939	Abnormality of metabolism/homeostasis	4287	ATXN3	ORPHA:276244
HP:0001939	Abnormality of metabolism/homeostasis	4287	ATXN3	ORPHA:276241
HP:0001939	Abnormality of metabolism/homeostasis	6926	TBX3	ORPHA:3138
HP:0001939	Abnormality of metabolism/homeostasis	633	BGN	OMIM:300106
HP:0001939	Abnormality of metabolism/homeostasis	5281	PIGF	OMIM:619356
HP:0001939	Abnormality of metabolism/homeostasis	3156	HMGCR	OMIM:620375
HP:0001939	Abnormality of metabolism/homeostasis	5283	PIGH	OMIM:618010
HP:0001939	Abnormality of metabolism/homeostasis	1678	TIMM8A	ORPHA:52368
HP:0001939	Abnormality of metabolism/homeostasis	388015	RTL1	ORPHA:96184
HP:0001939	Abnormality of metabolism/homeostasis	388015	RTL1	ORPHA:254531
HP:0001939	Abnormality of metabolism/homeostasis	8788	DLK1	ORPHA:96184
HP:0001939	Abnormality of metabolism/homeostasis	8788	DLK1	ORPHA:254531
HP:0001939	Abnormality of metabolism/homeostasis	55384	MEG3	ORPHA:96184
HP:0001939	Abnormality of metabolism/homeostasis	55384	MEG3	ORPHA:254531
HP:0001939	Abnormality of metabolism/homeostasis	57704	GBA2	ORPHA:352641
HP:0001939	Abnormality of metabolism/homeostasis	199221	DZIP1L	ORPHA:731
HP:0001939	Abnormality of metabolism/homeostasis	3858	KRT10	OMIM:620707
HP:0001939	Abnormality of metabolism/homeostasis	6660	SOX5	ORPHA:626
HP:0001939	Abnormality of metabolism/homeostasis	130589	GALM	ORPHA:570422
HP:0001939	Abnormality of metabolism/homeostasis	6514	SLC2A2	OMIM:227810
HP:0001939	Abnormality of metabolism/homeostasis	4860	PNP	OMIM:613179
HP:0001939	Abnormality of metabolism/homeostasis	3718	JAK3	OMIM:600802
HP:0001939	Abnormality of metabolism/homeostasis	841	CASP8	OMIM:607271
HP:0001939	Abnormality of metabolism/homeostasis	84061	MAGT1	OMIM:300853
HP:0001939	Abnormality of metabolism/homeostasis	115650	TNFRSF13C	OMIM:240500
HP:0001939	Abnormality of metabolism/homeostasis	29851	ICOS	OMIM:240500
HP:0001939	Abnormality of metabolism/homeostasis	29851	ICOS	OMIM:607594
HP:0001939	Abnormality of metabolism/homeostasis	930	CD19	OMIM:240500
HP:0001939	Abnormality of metabolism/homeostasis	23495	TNFRSF13B	OMIM:240500
HP:0001939	Abnormality of metabolism/homeostasis	55630	SLC39A4	OMIM:201100
HP:0001939	Abnormality of metabolism/homeostasis	57511	COG6	OMIM:614576
HP:0001939	Abnormality of metabolism/homeostasis	54487	DGCR8	OMIM:192430
HP:0001939	Abnormality of metabolism/homeostasis	8214	DGCR6	OMIM:192430
HP:0001939	Abnormality of metabolism/homeostasis	8220	ESS2	OMIM:192430
HP:0001939	Abnormality of metabolism/homeostasis	9993	DGCR2	OMIM:192430
HP:0001939	Abnormality of metabolism/homeostasis	1312	COMT	ORPHA:567
HP:0001939	Abnormality of metabolism/homeostasis	221037	JMJD1C	ORPHA:567
HP:0001939	Abnormality of metabolism/homeostasis	6239	RREB1	ORPHA:567
HP:0001939	Abnormality of metabolism/homeostasis	7290	HIRA	ORPHA:567
HP:0001939	Abnormality of metabolism/homeostasis	9632	SEC24C	ORPHA:567
HP:0001939	Abnormality of metabolism/homeostasis	7353	UFD1	ORPHA:567
HP:0001939	Abnormality of metabolism/homeostasis	421	ARVCF	ORPHA:567
HP:0001939	Abnormality of metabolism/homeostasis	55764	IFT122	OMIM:218330
HP:0001939	Abnormality of metabolism/homeostasis	5106	PCK2	OMIM:261650
HP:0001939	Abnormality of metabolism/homeostasis	283446	MYO1H	OMIM:619482
HP:0001939	Abnormality of metabolism/homeostasis	440138	ALG11	ORPHA:280071
HP:0001939	Abnormality of metabolism/homeostasis	440138	ALG11	OMIM:613661
HP:0001939	Abnormality of metabolism/homeostasis	6571	SLC18A2	OMIM:618049
HP:0001939	Abnormality of metabolism/homeostasis	55823	VPS11	OMIM:616683
HP:0001939	Abnormality of metabolism/homeostasis	2260	FGFR1	ORPHA:220386
HP:0001939	Abnormality of metabolism/homeostasis	2260	FGFR1	ORPHA:93924
HP:0001939	Abnormality of metabolism/homeostasis	28514	DLL1	ORPHA:220386
HP:0001939	Abnormality of metabolism/homeostasis	28514	DLL1	ORPHA:93926
HP:0001939	Abnormality of metabolism/homeostasis	28514	DLL1	ORPHA:93924
HP:0001939	Abnormality of metabolism/homeostasis	28514	DLL1	ORPHA:93925
HP:0001939	Abnormality of metabolism/homeostasis	10735	STAG2	ORPHA:220386
HP:0001939	Abnormality of metabolism/homeostasis	10735	STAG2	ORPHA:93925
HP:0001939	Abnormality of metabolism/homeostasis	2253	FGF8	ORPHA:220386
HP:0001939	Abnormality of metabolism/homeostasis	2253	FGF8	ORPHA:93926
HP:0001939	Abnormality of metabolism/homeostasis	2253	FGF8	ORPHA:93924
HP:0001939	Abnormality of metabolism/homeostasis	2253	FGF8	ORPHA:93925
HP:0001939	Abnormality of metabolism/homeostasis	8243	SMC1A	ORPHA:220386
HP:0001939	Abnormality of metabolism/homeostasis	6496	SIX3	ORPHA:220386
HP:0001939	Abnormality of metabolism/homeostasis	6496	SIX3	ORPHA:93926
HP:0001939	Abnormality of metabolism/homeostasis	6496	SIX3	ORPHA:93924
HP:0001939	Abnormality of metabolism/homeostasis	6496	SIX3	ORPHA:93925
HP:0001939	Abnormality of metabolism/homeostasis	7050	TGIF1	ORPHA:220386
HP:0001939	Abnormality of metabolism/homeostasis	7050	TGIF1	ORPHA:93926
HP:0001939	Abnormality of metabolism/homeostasis	7050	TGIF1	ORPHA:93924
HP:0001939	Abnormality of metabolism/homeostasis	7050	TGIF1	ORPHA:93925
HP:0001939	Abnormality of metabolism/homeostasis	4838	NODAL	ORPHA:220386
HP:0001939	Abnormality of metabolism/homeostasis	4838	NODAL	ORPHA:93926
HP:0001939	Abnormality of metabolism/homeostasis	4838	NODAL	ORPHA:93924
HP:0001939	Abnormality of metabolism/homeostasis	4838	NODAL	ORPHA:93925
HP:0001939	Abnormality of metabolism/homeostasis	7546	ZIC2	ORPHA:220386
HP:0001939	Abnormality of metabolism/homeostasis	7546	ZIC2	ORPHA:93926
HP:0001939	Abnormality of metabolism/homeostasis	7546	ZIC2	ORPHA:93924
HP:0001939	Abnormality of metabolism/homeostasis	7546	ZIC2	ORPHA:93925
HP:0001939	Abnormality of metabolism/homeostasis	6491	STIL	ORPHA:220386
HP:0001939	Abnormality of metabolism/homeostasis	6491	STIL	ORPHA:93926
HP:0001939	Abnormality of metabolism/homeostasis	6491	STIL	ORPHA:93924
HP:0001939	Abnormality of metabolism/homeostasis	6491	STIL	ORPHA:93925
HP:0001939	Abnormality of metabolism/homeostasis	2619	GAS1	ORPHA:220386
HP:0001939	Abnormality of metabolism/homeostasis	2619	GAS1	ORPHA:93926
HP:0001939	Abnormality of metabolism/homeostasis	2619	GAS1	ORPHA:93924
HP:0001939	Abnormality of metabolism/homeostasis	2619	GAS1	ORPHA:93925
HP:0001939	Abnormality of metabolism/homeostasis	84976	DISP1	ORPHA:220386
HP:0001939	Abnormality of metabolism/homeostasis	84976	DISP1	ORPHA:93926
HP:0001939	Abnormality of metabolism/homeostasis	84976	DISP1	ORPHA:93924
HP:0001939	Abnormality of metabolism/homeostasis	84976	DISP1	ORPHA:93925
HP:0001939	Abnormality of metabolism/homeostasis	2736	GLI2	ORPHA:220386
HP:0001939	Abnormality of metabolism/homeostasis	2736	GLI2	ORPHA:93926
HP:0001939	Abnormality of metabolism/homeostasis	2736	GLI2	ORPHA:93924
HP:0001939	Abnormality of metabolism/homeostasis	2736	GLI2	ORPHA:93925
HP:0001939	Abnormality of metabolism/homeostasis	8928	FOXH1	ORPHA:220386
HP:0001939	Abnormality of metabolism/homeostasis	8928	FOXH1	ORPHA:93926
HP:0001939	Abnormality of metabolism/homeostasis	8928	FOXH1	ORPHA:93924
HP:0001939	Abnormality of metabolism/homeostasis	8928	FOXH1	ORPHA:93925
HP:0001939	Abnormality of metabolism/homeostasis	6997	CRIPTO	ORPHA:220386
HP:0001939	Abnormality of metabolism/homeostasis	6997	CRIPTO	ORPHA:93926
HP:0001939	Abnormality of metabolism/homeostasis	6997	CRIPTO	ORPHA:93924
HP:0001939	Abnormality of metabolism/homeostasis	6997	CRIPTO	ORPHA:93925
HP:0001939	Abnormality of metabolism/homeostasis	5727	PTCH1	ORPHA:220386
HP:0001939	Abnormality of metabolism/homeostasis	5727	PTCH1	ORPHA:93926
HP:0001939	Abnormality of metabolism/homeostasis	5727	PTCH1	ORPHA:93924
HP:0001939	Abnormality of metabolism/homeostasis	5727	PTCH1	ORPHA:93925
HP:0001939	Abnormality of metabolism/homeostasis	50937	CDON	ORPHA:220386
HP:0001939	Abnormality of metabolism/homeostasis	50937	CDON	ORPHA:93926
HP:0001939	Abnormality of metabolism/homeostasis	50937	CDON	ORPHA:93924
HP:0001939	Abnormality of metabolism/homeostasis	50937	CDON	ORPHA:93925
HP:0001939	Abnormality of metabolism/homeostasis	1317	SLC31A1	OMIM:620306
HP:0001939	Abnormality of metabolism/homeostasis	54551	MAGEL2	ORPHA:398069
HP:0001939	Abnormality of metabolism/homeostasis	54551	MAGEL2	OMIM:176270
HP:0001939	Abnormality of metabolism/homeostasis	55164	SHQ1	OMIM:619922
HP:0001939	Abnormality of metabolism/homeostasis	23007	PLCH1	ORPHA:93925
HP:0001939	Abnormality of metabolism/homeostasis	8398	PLA2G6	ORPHA:35069
HP:0001939	Abnormality of metabolism/homeostasis	60386	SLC25A19	ORPHA:99742
HP:0001939	Abnormality of metabolism/homeostasis	100033413	SNORD116-1	OMIM:176270
HP:0001939	Abnormality of metabolism/homeostasis	8924	HERC2	OMIM:176270
HP:0001939	Abnormality of metabolism/homeostasis	23742	NPAP1	OMIM:176270
HP:0001939	Abnormality of metabolism/homeostasis	338433	SNORD115-1	OMIM:176270
HP:0001939	Abnormality of metabolism/homeostasis	7681	MKRN3	OMIM:176270
HP:0001939	Abnormality of metabolism/homeostasis	145624	PWAR1	OMIM:176270
HP:0001939	Abnormality of metabolism/homeostasis	3653	IPW	OMIM:176270
HP:0001939	Abnormality of metabolism/homeostasis	791114	PWRN1	OMIM:176270
HP:0001939	Abnormality of metabolism/homeostasis	6697	SPR	ORPHA:70594
HP:0001939	Abnormality of metabolism/homeostasis	229	ALDOB	OMIM:229600
HP:0001939	Abnormality of metabolism/homeostasis	5019	OXCT1	OMIM:245050
HP:0001939	Abnormality of metabolism/homeostasis	6473	SHOX	ORPHA:314795
HP:0001939	Abnormality of metabolism/homeostasis	27130	INVS	OMIM:602088
HP:0001939	Abnormality of metabolism/homeostasis	63036	CELA2A	OMIM:618620
HP:0001939	Abnormality of metabolism/homeostasis	10908	PNPLA6	ORPHA:2377
HP:0001939	Abnormality of metabolism/homeostasis	10273	STUB1	ORPHA:412057
HP:0001939	Abnormality of metabolism/homeostasis	4340	MOG	OMIM:614250
HP:0001939	Abnormality of metabolism/homeostasis	64788	LMF1	OMIM:246650
HP:0001939	Abnormality of metabolism/homeostasis	5333	PLCD1	ORPHA:2387
HP:0001939	Abnormality of metabolism/homeostasis	5116	PCNT	OMIM:210720
HP:0001939	Abnormality of metabolism/homeostasis	25942	SIN3A	OMIM:613406
HP:0001939	Abnormality of metabolism/homeostasis	7873	MANF	OMIM:620651
HP:0001939	Abnormality of metabolism/homeostasis	686	BTD	OMIM:253260
HP:0001939	Abnormality of metabolism/homeostasis	686	BTD	ORPHA:79241
HP:0001939	Abnormality of metabolism/homeostasis	4594	MMUT	OMIM:251000
HP:0001939	Abnormality of metabolism/homeostasis	5053	PAH	OMIM:261600
HP:0001939	Abnormality of metabolism/homeostasis	174	AFP	OMIM:615970
HP:0001939	Abnormality of metabolism/homeostasis	7066	THPO	OMIM:620481
HP:0001939	Abnormality of metabolism/homeostasis	4233	MET	ORPHA:33402
HP:0001939	Abnormality of metabolism/homeostasis	113220	KIF12	OMIM:619662
HP:0001939	Abnormality of metabolism/homeostasis	10397	NDRG1	OMIM:601455
HP:0001939	Abnormality of metabolism/homeostasis	4638	MYLK	OMIM:249210
HP:0001939	Abnormality of metabolism/homeostasis	285489	DOK7	OMIM:618389
HP:0001939	Abnormality of metabolism/homeostasis	54916	TMEM260	OMIM:617478
HP:0001939	Abnormality of metabolism/homeostasis	131377	KLHL40	ORPHA:171430
HP:0001939	Abnormality of metabolism/homeostasis	56203	LMOD3	ORPHA:171430
HP:0001939	Abnormality of metabolism/homeostasis	9373	PLAA	ORPHA:521426
HP:0001939	Abnormality of metabolism/homeostasis	9373	PLAA	OMIM:617527
HP:0001939	Abnormality of metabolism/homeostasis	11342	RNF13	ORPHA:544503
HP:0001939	Abnormality of metabolism/homeostasis	9939	RBM8A	OMIM:274000
HP:0001939	Abnormality of metabolism/homeostasis	84572	GNPTG	OMIM:252605
HP:0001939	Abnormality of metabolism/homeostasis	59341	TRPV4	OMIM:184095
HP:0001939	Abnormality of metabolism/homeostasis	57104	PNPLA2	ORPHA:98908
HP:0001939	Abnormality of metabolism/homeostasis	3295	HSD17B4	OMIM:261515
HP:0001939	Abnormality of metabolism/homeostasis	91452	ACBD5	OMIM:618863
HP:0001939	Abnormality of metabolism/homeostasis	215	ABCD1	ORPHA:139399
HP:0001939	Abnormality of metabolism/homeostasis	215	ABCD1	ORPHA:139396
HP:0001939	Abnormality of metabolism/homeostasis	7072	TIA1	OMIM:604454
HP:0001939	Abnormality of metabolism/homeostasis	7072	TIA1	ORPHA:603
HP:0001939	Abnormality of metabolism/homeostasis	54870	QRICH1	OMIM:617982
HP:0001939	Abnormality of metabolism/homeostasis	10073	SNUPN	OMIM:620793
HP:0001939	Abnormality of metabolism/homeostasis	57449	PLEKHG5	OMIM:615376
HP:0001939	Abnormality of metabolism/homeostasis	55681	SCYL2	ORPHA:1143
HP:0001939	Abnormality of metabolism/homeostasis	84570	COL25A1	ORPHA:1143
HP:0001939	Abnormality of metabolism/homeostasis	57222	ERGIC1	ORPHA:1143
HP:0001939	Abnormality of metabolism/homeostasis	27145	FILIP1	OMIM:620775
HP:0001939	Abnormality of metabolism/homeostasis	9325	TRIP4	ORPHA:486815
HP:0001939	Abnormality of metabolism/homeostasis	367	AR	ORPHA:90797
HP:0001939	Abnormality of metabolism/homeostasis	7555	CNBP	OMIM:602668
HP:0001939	Abnormality of metabolism/homeostasis	7555	CNBP	ORPHA:606
HP:0001939	Abnormality of metabolism/homeostasis	60676	PAPPA2	OMIM:619489
HP:0001939	Abnormality of metabolism/homeostasis	3664	IRF6	ORPHA:1300
HP:0001939	Abnormality of metabolism/homeostasis	153642	ARSK	OMIM:619698
HP:0001939	Abnormality of metabolism/homeostasis	51102	MECR	ORPHA:508093
HP:0001939	Abnormality of metabolism/homeostasis	4568	MT-TL2	ORPHA:663
HP:0001939	Abnormality of metabolism/homeostasis	10939	AFG3L2	ORPHA:313772
HP:0001939	Abnormality of metabolism/homeostasis	1441	CSF3R	OMIM:162830
HP:0001939	Abnormality of metabolism/homeostasis	6687	SPG7	ORPHA:99013
HP:0001939	Abnormality of metabolism/homeostasis	6901	TAFAZZIN	ORPHA:111
HP:0001939	Abnormality of metabolism/homeostasis	6901	TAFAZZIN	OMIM:302060
HP:0001939	Abnormality of metabolism/homeostasis	63931	MRPS14	OMIM:618378
HP:0001939	Abnormality of metabolism/homeostasis	2521	FUS	ORPHA:275872
HP:0001939	Abnormality of metabolism/homeostasis	8878	SQSTM1	ORPHA:275872
HP:0001939	Abnormality of metabolism/homeostasis	7415	VCP	ORPHA:275872
HP:0001939	Abnormality of metabolism/homeostasis	23435	TARDBP	ORPHA:275872
HP:0001939	Abnormality of metabolism/homeostasis	400916	CHCHD10	ORPHA:275872
HP:0001939	Abnormality of metabolism/homeostasis	51649	MRPS23	OMIM:618952
HP:0001939	Abnormality of metabolism/homeostasis	28958	COA3	OMIM:619058
HP:0001939	Abnormality of metabolism/homeostasis	54802	TRIT1	OMIM:617873
HP:0001939	Abnormality of metabolism/homeostasis	493753	COA5	OMIM:616500
HP:0001939	Abnormality of metabolism/homeostasis	64432	MRPS25	OMIM:619025
HP:0001939	Abnormality of metabolism/homeostasis	1581	CYP7A1	ORPHA:209902
HP:0001939	Abnormality of metabolism/homeostasis	2027	ENO3	OMIM:612932
HP:0001939	Abnormality of metabolism/homeostasis	57190	SELENON	ORPHA:324604
HP:0001939	Abnormality of metabolism/homeostasis	58	ACTA1	ORPHA:171439
HP:0001939	Abnormality of metabolism/homeostasis	7169	TPM2	ORPHA:171439
HP:0001939	Abnormality of metabolism/homeostasis	390594	KBTBD13	ORPHA:171439
HP:0001939	Abnormality of metabolism/homeostasis	4703	NEB	ORPHA:171439
HP:0001939	Abnormality of metabolism/homeostasis	10324	KLHL41	ORPHA:171439
HP:0001939	Abnormality of metabolism/homeostasis	7170	TPM3	ORPHA:171439
HP:0001939	Abnormality of metabolism/homeostasis	4556	MT-TE	ORPHA:254864
HP:0001939	Abnormality of metabolism/homeostasis	55687	TRMU	ORPHA:254864
HP:0001939	Abnormality of metabolism/homeostasis	1303	COL12A1	ORPHA:610
HP:0001939	Abnormality of metabolism/homeostasis	1291	COL6A1	ORPHA:610
HP:0001939	Abnormality of metabolism/homeostasis	1292	COL6A2	ORPHA:610
HP:0001939	Abnormality of metabolism/homeostasis	1293	COL6A3	ORPHA:610
HP:0001939	Abnormality of metabolism/homeostasis	10535	RNASEH2A	ORPHA:51
HP:0001939	Abnormality of metabolism/homeostasis	84153	RNASEH2C	ORPHA:51
HP:0001939	Abnormality of metabolism/homeostasis	25939	SAMHD1	ORPHA:51
HP:0001939	Abnormality of metabolism/homeostasis	79621	RNASEH2B	ORPHA:51
HP:0001939	Abnormality of metabolism/homeostasis	103	ADAR	ORPHA:51
HP:0001939	Abnormality of metabolism/homeostasis	103	ADAR	OMIM:615010
HP:0001939	Abnormality of metabolism/homeostasis	100147744	RNU7-1	ORPHA:51
HP:0001939	Abnormality of metabolism/homeostasis	134353	LSM11	ORPHA:51
HP:0001939	Abnormality of metabolism/homeostasis	64135	IFIH1	ORPHA:51
HP:0001939	Abnormality of metabolism/homeostasis	199857	ALG14	OMIM:619036
HP:0001939	Abnormality of metabolism/homeostasis	57231	SNX14	OMIM:616354
HP:0001939	Abnormality of metabolism/homeostasis	57231	SNX14	ORPHA:397709
HP:0001939	Abnormality of metabolism/homeostasis	7390	UROS	ORPHA:79277
HP:0001939	Abnormality of metabolism/homeostasis	2623	GATA1	ORPHA:79277
HP:0001939	Abnormality of metabolism/homeostasis	4070	TACSTD2	ORPHA:98957
HP:0001939	Abnormality of metabolism/homeostasis	4883	NPR3	OMIM:619543
HP:0001939	Abnormality of metabolism/homeostasis	8517	IKBKG	ORPHA:98813
HP:0001939	Abnormality of metabolism/homeostasis	6729	SRP54	OMIM:618752
HP:0001939	Abnormality of metabolism/homeostasis	727897	MUC5B	OMIM:178500
HP:0001939	Abnormality of metabolism/homeostasis	729238	SFTPA2	OMIM:178500
HP:0001939	Abnormality of metabolism/homeostasis	11311	VPS45	OMIM:615285
HP:0001939	Abnormality of metabolism/homeostasis	4733	DRG1	OMIM:620641
HP:0001939	Abnormality of metabolism/homeostasis	7092	TLL1	ORPHA:99103
HP:0001939	Abnormality of metabolism/homeostasis	57057	TBX20	ORPHA:99103
HP:0001939	Abnormality of metabolism/homeostasis	10370	CITED2	ORPHA:99103
HP:0001939	Abnormality of metabolism/homeostasis	2626	GATA4	ORPHA:99103
HP:0001939	Abnormality of metabolism/homeostasis	10297	APC2	ORPHA:821
HP:0001939	Abnormality of metabolism/homeostasis	9158	FIBP	OMIM:617107
HP:0001939	Abnormality of metabolism/homeostasis	11231	SEC63	ORPHA:2924
HP:0001939	Abnormality of metabolism/homeostasis	5589	PRKCSH	ORPHA:2924
HP:0001939	Abnormality of metabolism/homeostasis	1009	CDH11	ORPHA:1299
HP:0001939	Abnormality of metabolism/homeostasis	9509	ADAMTS2	OMIM:225410
HP:0001939	Abnormality of metabolism/homeostasis	2202	EFEMP1	OMIM:620780
HP:0001939	Abnormality of metabolism/homeostasis	80204	FBXO11	OMIM:618089
HP:0001939	Abnormality of metabolism/homeostasis	1174	AP1S1	ORPHA:171851
HP:0001939	Abnormality of metabolism/homeostasis	9197	SLC33A1	OMIM:614482
HP:0001939	Abnormality of metabolism/homeostasis	166378	AFG2A	ORPHA:457351
HP:0001939	Abnormality of metabolism/homeostasis	1439	CSF2RB	ORPHA:264675
HP:0001939	Abnormality of metabolism/homeostasis	1438	CSF2RA	ORPHA:264675
HP:0001939	Abnormality of metabolism/homeostasis	23476	BRD4	ORPHA:199
HP:0001939	Abnormality of metabolism/homeostasis	9126	SMC3	ORPHA:199
HP:0001939	Abnormality of metabolism/homeostasis	6878	TAF6	ORPHA:199
HP:0001939	Abnormality of metabolism/homeostasis	55869	HDAC8	ORPHA:199
HP:0001939	Abnormality of metabolism/homeostasis	5885	RAD21	ORPHA:199
HP:0001939	Abnormality of metabolism/homeostasis	699	BUB1	OMIM:620183
HP:0001939	Abnormality of metabolism/homeostasis	699	BUB1	ORPHA:1052
HP:0001939	Abnormality of metabolism/homeostasis	1725	DHPS	OMIM:618480
HP:0001939	Abnormality of metabolism/homeostasis	104	ADARB1	OMIM:618862
HP:0001939	Abnormality of metabolism/homeostasis	4593	MUSK	OMIM:208150
HP:0001939	Abnormality of metabolism/homeostasis	29895	MYL11	OMIM:619110
HP:0001939	Abnormality of metabolism/homeostasis	83871	RAB34	OMIM:620718
HP:0001939	Abnormality of metabolism/homeostasis	10274	STAG1	OMIM:617635
HP:0001939	Abnormality of metabolism/homeostasis	2261	FGFR3	ORPHA:1860
HP:0001939	Abnormality of metabolism/homeostasis	2261	FGFR3	ORPHA:93274
HP:0001939	Abnormality of metabolism/homeostasis	79770	TXNDC15	OMIM:619879
HP:0001939	Abnormality of metabolism/homeostasis	83475	DOHH	OMIM:620066
HP:0001939	Abnormality of metabolism/homeostasis	23556	PIGN	ORPHA:280633
HP:0001939	Abnormality of metabolism/homeostasis	9184	BUB3	ORPHA:1052
HP:0001939	Abnormality of metabolism/homeostasis	9702	CEP57	ORPHA:1052
HP:0001939	Abnormality of metabolism/homeostasis	51741	WWOX	OMIM:616211
HP:0001939	Abnormality of metabolism/homeostasis	1822	ATN1	OMIM:618494
HP:0001939	Abnormality of metabolism/homeostasis	55790	CSGALNACT1	OMIM:618870
HP:0001939	Abnormality of metabolism/homeostasis	10082	GPC6	ORPHA:93329
HP:0001939	Abnormality of metabolism/homeostasis	5908	RAP1B	OMIM:620654
HP:0001939	Abnormality of metabolism/homeostasis	1717	DHCR7	ORPHA:818
HP:0001939	Abnormality of metabolism/homeostasis	168667	BMPER	OMIM:608022
HP:0001939	Abnormality of metabolism/homeostasis	1757	SARDH	ORPHA:3129
HP:0001939	Abnormality of metabolism/homeostasis	152926	PPM1K	OMIM:615135
HP:0001939	Abnormality of metabolism/homeostasis	594	BCKDHB	OMIM:620698
HP:0001939	Abnormality of metabolism/homeostasis	7498	XDH	OMIM:278300
HP:0001939	Abnormality of metabolism/homeostasis	4338	MOCS2	OMIM:252160
HP:0001939	Abnormality of metabolism/homeostasis	55034	MOCOS	OMIM:603592
HP:0001939	Abnormality of metabolism/homeostasis	3795	KHK	ORPHA:2056
HP:0001939	Abnormality of metabolism/homeostasis	84033	OBSCN	ORPHA:99845
HP:0001939	Abnormality of metabolism/homeostasis	23175	LPIN1	ORPHA:99845
HP:0001939	Abnormality of metabolism/homeostasis	10111	RAD50	OMIM:613078
HP:0001939	Abnormality of metabolism/homeostasis	7156	TOP3A	OMIM:618097
HP:0001939	Abnormality of metabolism/homeostasis	10342	TFG	ORPHA:90117
HP:0001939	Abnormality of metabolism/homeostasis	23040	MYT1L	OMIM:616521
HP:0001939	Abnormality of metabolism/homeostasis	57192	MCOLN1	ORPHA:578
HP:0001939	Abnormality of metabolism/homeostasis	57192	MCOLN1	OMIM:252650
HP:0001939	Abnormality of metabolism/homeostasis	5286	PIK3C2A	ORPHA:557003
HP:0001939	Abnormality of metabolism/homeostasis	6499	SKIC2	ORPHA:84064
HP:0001939	Abnormality of metabolism/homeostasis	3081	HGD	ORPHA:56
HP:0001939	Abnormality of metabolism/homeostasis	4210	MEFV	ORPHA:342
HP:0001939	Abnormality of metabolism/homeostasis	4210	MEFV	OMIM:249100
HP:0001939	Abnormality of metabolism/homeostasis	2859	GPR35	ORPHA:171
HP:0001939	Abnormality of metabolism/homeostasis	10507	SEMA4D	ORPHA:171
HP:0001939	Abnormality of metabolism/homeostasis	4485	MST1	ORPHA:171
HP:0001939	Abnormality of metabolism/homeostasis	6925	TCF4	ORPHA:171
HP:0001939	Abnormality of metabolism/homeostasis	1471	CST3	ORPHA:100008
HP:0001939	Abnormality of metabolism/homeostasis	6288	SAA1	ORPHA:85445
HP:0001939	Abnormality of metabolism/homeostasis	22861	NLRP1	OMIM:615225
HP:0001939	Abnormality of metabolism/homeostasis	4069	LYZ	OMIM:620658
HP:0001939	Abnormality of metabolism/homeostasis	171023	ASXL1	ORPHA:98849
HP:0001939	Abnormality of metabolism/homeostasis	54790	TET2	ORPHA:98849
HP:0001939	Abnormality of metabolism/homeostasis	3815	KIT	ORPHA:98849
HP:0001939	Abnormality of metabolism/homeostasis	6427	SRSF2	ORPHA:98849
HP:0001939	Abnormality of metabolism/homeostasis	335	APOA1	OMIM:620657
HP:0001939	Abnormality of metabolism/homeostasis	595	CCND1	OMIM:254500
HP:0001939	Abnormality of metabolism/homeostasis	3981	LIG4	OMIM:254500
HP:0001939	Abnormality of metabolism/homeostasis	7276	TTR	OMIM:105210
HP:0001939	Abnormality of metabolism/homeostasis	8314	BAP1	ORPHA:2495
HP:0001939	Abnormality of metabolism/homeostasis	4771	NF2	ORPHA:2495
HP:0001939	Abnormality of metabolism/homeostasis	6598	SMARCB1	ORPHA:2495
HP:0001939	Abnormality of metabolism/homeostasis	5155	PDGFB	ORPHA:2495
HP:0001939	Abnormality of metabolism/homeostasis	84231	TRAF7	ORPHA:2495
HP:0001939	Abnormality of metabolism/homeostasis	6608	SMO	ORPHA:2495
HP:0001939	Abnormality of metabolism/homeostasis	207	AKT1	ORPHA:2495
HP:0001939	Abnormality of metabolism/homeostasis	5290	PIK3CA	ORPHA:2495
HP:0001939	Abnormality of metabolism/homeostasis	51684	SUFU	ORPHA:2495
HP:0001939	Abnormality of metabolism/homeostasis	6605	SMARCE1	ORPHA:2495
HP:0001939	Abnormality of metabolism/homeostasis	165918	RNF168	OMIM:611943
HP:0001939	Abnormality of metabolism/homeostasis	56160	NSMCE3	OMIM:617241
HP:0001939	Abnormality of metabolism/homeostasis	4361	MRE11	OMIM:604391
HP:0001939	Abnormality of metabolism/homeostasis	3689	ITGB2	OMIM:116920
HP:0001939	Abnormality of metabolism/homeostasis	90268	OTULIN	OMIM:617099
HP:0001939	Abnormality of metabolism/homeostasis	4068	SH2D1A	OMIM:308240
HP:0001939	Abnormality of metabolism/homeostasis	10092	ARPC5	OMIM:620565
HP:0001939	Abnormality of metabolism/homeostasis	11330	CTRC	ORPHA:676
HP:0001939	Abnormality of metabolism/homeostasis	5644	PRSS1	ORPHA:676
HP:0001939	Abnormality of metabolism/homeostasis	5645	PRSS2	ORPHA:676
HP:0001939	Abnormality of metabolism/homeostasis	6690	SPINK1	ORPHA:676
HP:0001939	Abnormality of metabolism/homeostasis	55503	TRPV6	ORPHA:676
HP:0001939	Abnormality of metabolism/homeostasis	846	CASR	ORPHA:676
HP:0001939	Abnormality of metabolism/homeostasis	1080	CFTR	ORPHA:676
HP:0001939	Abnormality of metabolism/homeostasis	1357	CPA1	ORPHA:676
HP:0001939	Abnormality of metabolism/homeostasis	9051	PSTPIP1	OMIM:604416
HP:0001939	Abnormality of metabolism/homeostasis	3572	IL6ST	OMIM:619750
HP:0001939	Abnormality of metabolism/homeostasis	6850	SYK	OMIM:619381
HP:0001939	Abnormality of metabolism/homeostasis	205327	C2orf69	OMIM:619423
HP:0001939	Abnormality of metabolism/homeostasis	9380	GRHPR	OMIM:260000
HP:0001939	Abnormality of metabolism/homeostasis	65266	WNK4	OMIM:614491
HP:0001939	Abnormality of metabolism/homeostasis	26249	KLHL3	OMIM:614495
HP:0001939	Abnormality of metabolism/homeostasis	3105	HLA-A	ORPHA:179
HP:0001939	Abnormality of metabolism/homeostasis	285440	CYP4V2	ORPHA:41751
HP:0001939	Abnormality of metabolism/homeostasis	57096	RPGRIP1	OMIM:608194
HP:0001939	Abnormality of metabolism/homeostasis	5959	RDH5	ORPHA:52427
HP:0001939	Abnormality of metabolism/homeostasis	83552	MFRP	OMIM:611040
HP:0001939	Abnormality of metabolism/homeostasis	9414	TJP2	OMIM:607748
HP:0001939	Abnormality of metabolism/homeostasis	9200	HACD1	OMIM:619967
HP:0001939	Abnormality of metabolism/homeostasis	1020	CDK5	OMIM:616342
HP:0001939	Abnormality of metabolism/homeostasis	55037	PTCD3	OMIM:619057
HP:0001939	Abnormality of metabolism/homeostasis	122961	ISCA2	OMIM:616370
HP:0001939	Abnormality of metabolism/homeostasis	54902	TTC19	OMIM:615157
HP:0001939	Abnormality of metabolism/homeostasis	6821	SUOX	OMIM:272300
HP:0001939	Abnormality of metabolism/homeostasis	5664	PSEN2	OMIM:606889
HP:0001939	Abnormality of metabolism/homeostasis	348	APOE	OMIM:606889
HP:0001939	Abnormality of metabolism/homeostasis	351	APP	OMIM:605714
HP:0001939	Abnormality of metabolism/homeostasis	351	APP	ORPHA:100006
HP:0001939	Abnormality of metabolism/homeostasis	9445	ITM2B	OMIM:176500
HP:0001939	Abnormality of metabolism/homeostasis	9445	ITM2B	OMIM:117300
HP:0001939	Abnormality of metabolism/homeostasis	222546	RFX6	OMIM:615710
HP:0001939	Abnormality of metabolism/homeostasis	5774	PTPN3	ORPHA:70567
HP:0001939	Abnormality of metabolism/homeostasis	6098	ROS1	ORPHA:70567
HP:0001939	Abnormality of metabolism/homeostasis	80270	HSD3B7	OMIM:607765
HP:0001939	Abnormality of metabolism/homeostasis	4645	MYO5B	OMIM:619868
HP:0001939	Abnormality of metabolism/homeostasis	9420	CYP7B1	OMIM:613812
HP:0001939	Abnormality of metabolism/homeostasis	9652	SKIC3	OMIM:222470
HP:0001939	Abnormality of metabolism/homeostasis	93986	FOXP2	ORPHA:251061
HP:0001939	Abnormality of metabolism/homeostasis	5159	PDGFRB	OMIM:601812
HP:0001939	Abnormality of metabolism/homeostasis	7010	TEK	OMIM:617272
HP:0001939	Abnormality of metabolism/homeostasis	7010	TEK	ORPHA:98976
HP:0001939	Abnormality of metabolism/homeostasis	27151	CPAMD8	OMIM:617319
HP:0001939	Abnormality of metabolism/homeostasis	1545	CYP1B1	ORPHA:98976
HP:0001939	Abnormality of metabolism/homeostasis	4053	LTBP2	ORPHA:98976
HP:0001939	Abnormality of metabolism/homeostasis	4653	MYOC	ORPHA:98976
HP:0001939	Abnormality of metabolism/homeostasis	30813	VSX1	ORPHA:98973
HP:0001939	Abnormality of metabolism/homeostasis	58495	OVOL2	ORPHA:98973
HP:0001939	Abnormality of metabolism/homeostasis	79977	GRHL2	ORPHA:98973
HP:0001939	Abnormality of metabolism/homeostasis	7045	TGFBI	ORPHA:98964
HP:0001939	Abnormality of metabolism/homeostasis	2517	FUCA1	OMIM:230000
HP:0001939	Abnormality of metabolism/homeostasis	2588	GALNS	OMIM:253000
HP:0001939	Abnormality of metabolism/homeostasis	84896	ATAD1	OMIM:618011
HP:0001939	Abnormality of metabolism/homeostasis	51116	MRPS2	OMIM:617950
HP:0001939	Abnormality of metabolism/homeostasis	340024	SLC6A19	ORPHA:2116
HP:0001939	Abnormality of metabolism/homeostasis	57393	CLTRN	ORPHA:2116
HP:0001939	Abnormality of metabolism/homeostasis	1244	ABCC2	ORPHA:234
HP:0001939	Abnormality of metabolism/homeostasis	1756	DMD	ORPHA:98895
HP:0001939	Abnormality of metabolism/homeostasis	56947	MFF	ORPHA:485421
HP:0001939	Abnormality of metabolism/homeostasis	2232	FDXR	ORPHA:543470
HP:0001939	Abnormality of metabolism/homeostasis	4907	NT5E	ORPHA:289601
HP:0001939	Abnormality of metabolism/homeostasis	1890	TYMP	ORPHA:298
HP:0001939	Abnormality of metabolism/homeostasis	3980	LIG3	ORPHA:298
HP:0001939	Abnormality of metabolism/homeostasis	10059	DNM1L	ORPHA:330050
HP:0001939	Abnormality of metabolism/homeostasis	5250	SLC25A3	ORPHA:91130
HP:0001939	Abnormality of metabolism/homeostasis	5277	PIGA	OMIM:300868
HP:0001939	Abnormality of metabolism/homeostasis	5426	POLE	ORPHA:440437
HP:0001939	Abnormality of metabolism/homeostasis	6224	RPS20	ORPHA:440437
HP:0001939	Abnormality of metabolism/homeostasis	4595	MUTYH	ORPHA:440437
HP:0001939	Abnormality of metabolism/homeostasis	27329	ANGPTL3	OMIM:605019
HP:0001939	Abnormality of metabolism/homeostasis	345	APOC3	OMIM:614028
HP:0001939	Abnormality of metabolism/homeostasis	2214	FCGR3A	OMIM:615707
HP:0001939	Abnormality of metabolism/homeostasis	8546	AP3B1	OMIM:608233
HP:0001939	Abnormality of metabolism/homeostasis	1071	CETP	OMIM:143470
HP:0001939	Abnormality of metabolism/homeostasis	10845	CLPX	OMIM:618015
HP:0001939	Abnormality of metabolism/homeostasis	10309	CCNO	OMIM:615872
HP:0001939	Abnormality of metabolism/homeostasis	6804	STX1A	ORPHA:586
HP:0001939	Abnormality of metabolism/homeostasis	2947	GSTM3	ORPHA:586
HP:0001939	Abnormality of metabolism/homeostasis	2729	GCLC	ORPHA:586
HP:0001939	Abnormality of metabolism/homeostasis	1084	CEACAM3	ORPHA:586
HP:0001939	Abnormality of metabolism/homeostasis	6556	SLC11A1	ORPHA:586
HP:0001939	Abnormality of metabolism/homeostasis	51164	DCTN4	ORPHA:586
HP:0001939	Abnormality of metabolism/homeostasis	1909	EDNRA	ORPHA:586
HP:0001939	Abnormality of metabolism/homeostasis	115019	SLC26A9	ORPHA:586
HP:0001939	Abnormality of metabolism/homeostasis	11254	SLC6A14	ORPHA:586
HP:0001939	Abnormality of metabolism/homeostasis	5265	SERPINA1	ORPHA:586
HP:0001939	Abnormality of metabolism/homeostasis	22802	CLCA4	ORPHA:586
HP:0001939	Abnormality of metabolism/homeostasis	4680	CEACAM6	ORPHA:586
HP:0001939	Abnormality of metabolism/homeostasis	5406	PNLIP	OMIM:614338
HP:0001939	Abnormality of metabolism/homeostasis	10551	AGR2	OMIM:620233
HP:0001939	Abnormality of metabolism/homeostasis	771	CA12	OMIM:143860
HP:0001939	Abnormality of metabolism/homeostasis	131669	UROC1	OMIM:276880
HP:0001939	Abnormality of metabolism/homeostasis	131669	UROC1	ORPHA:210128
HP:0001939	Abnormality of metabolism/homeostasis	7018	TF	OMIM:209300
HP:0001939	Abnormality of metabolism/homeostasis	10008	KCNE3	ORPHA:681
HP:0001939	Abnormality of metabolism/homeostasis	55154	MSTO1	ORPHA:502423
HP:0001939	Abnormality of metabolism/homeostasis	2997	GYS1	OMIM:611556
HP:0001939	Abnormality of metabolism/homeostasis	7132	TNFRSF1A	OMIM:142680
HP:0001939	Abnormality of metabolism/homeostasis	11253	MAN1B1	ORPHA:397941
HP:0001939	Abnormality of metabolism/homeostasis	819	CAMLG	OMIM:620201
HP:0001939	Abnormality of metabolism/homeostasis	51608	GET4	OMIM:620200
HP:0001939	Abnormality of metabolism/homeostasis	9382	COG1	OMIM:611209
HP:0001939	Abnormality of metabolism/homeostasis	9382	COG1	ORPHA:263508
HP:0001939	Abnormality of metabolism/homeostasis	9180	OSMR	OMIM:105250
HP:0001939	Abnormality of metabolism/homeostasis	5422	POLA1	OMIM:301220
HP:0001939	Abnormality of metabolism/homeostasis	133396	IL31RA	OMIM:613955
HP:0001939	Abnormality of metabolism/homeostasis	3417	IDH1	ORPHA:99646
HP:0001939	Abnormality of metabolism/homeostasis	155	ADRB3	OMIM:601665
HP:0001939	Abnormality of metabolism/homeostasis	7352	UCP3	OMIM:601665
HP:0001939	Abnormality of metabolism/homeostasis	8431	NR0B2	OMIM:601665
HP:0001939	Abnormality of metabolism/homeostasis	9607	CARTPT	OMIM:601665
HP:0001939	Abnormality of metabolism/homeostasis	51738	GHRL	OMIM:601665
HP:0001939	Abnormality of metabolism/homeostasis	9672	SDC3	OMIM:601665
HP:0001939	Abnormality of metabolism/homeostasis	181	AGRP	OMIM:601665
HP:0001939	Abnormality of metabolism/homeostasis	790	CAD	OMIM:616457
HP:0001939	Abnormality of metabolism/homeostasis	201595	STT3B	OMIM:615597
HP:0001939	Abnormality of metabolism/homeostasis	201595	STT3B	ORPHA:370924
HP:0001939	Abnormality of metabolism/homeostasis	7355	SLC35A2	ORPHA:356961
HP:0001939	Abnormality of metabolism/homeostasis	84317	CCDC115	OMIM:616828
HP:0001939	Abnormality of metabolism/homeostasis	22796	COG2	OMIM:617395
HP:0001939	Abnormality of metabolism/homeostasis	3703	STT3A	OMIM:615596
HP:0001939	Abnormality of metabolism/homeostasis	3703	STT3A	ORPHA:370921
HP:0001939	Abnormality of metabolism/homeostasis	80267	EDEM3	OMIM:619493
HP:0001939	Abnormality of metabolism/homeostasis	25839	COG4	ORPHA:263501
HP:0001939	Abnormality of metabolism/homeostasis	537	ATP6AP1	OMIM:300972
HP:0001939	Abnormality of metabolism/homeostasis	2590	GALNT2	OMIM:618885
HP:0001939	Abnormality of metabolism/homeostasis	100134444	KCNJ18	ORPHA:79102
HP:0001939	Abnormality of metabolism/homeostasis	2556	GABRA3	ORPHA:79102
HP:0001939	Abnormality of metabolism/homeostasis	10841	FTCD	ORPHA:51208
HP:0001939	Abnormality of metabolism/homeostasis	22845	DOLK	ORPHA:91131
HP:0001939	Abnormality of metabolism/homeostasis	132158	GLYCTK	ORPHA:941
HP:0001939	Abnormality of metabolism/homeostasis	415	ARSL	ORPHA:79345
HP:0001939	Abnormality of metabolism/homeostasis	6718	AKR1D1	ORPHA:79303
HP:0001939	Abnormality of metabolism/homeostasis	85365	ALG2	ORPHA:79326
HP:0001939	Abnormality of metabolism/homeostasis	4125	MAN2B1	ORPHA:309282
HP:0001939	Abnormality of metabolism/homeostasis	3028	HSD17B10	ORPHA:391457
HP:0001939	Abnormality of metabolism/homeostasis	3028	HSD17B10	ORPHA:391428
HP:0001939	Abnormality of metabolism/homeostasis	2548	GAA	ORPHA:308552
HP:0001939	Abnormality of metabolism/homeostasis	10157	AASS	ORPHA:2203
HP:0001939	Abnormality of metabolism/homeostasis	79048	SECISBP2	ORPHA:171706
HP:0001939	Abnormality of metabolism/homeostasis	23600	AMACR	ORPHA:79095
HP:0001939	Abnormality of metabolism/homeostasis	8292	COLQ	ORPHA:98915
HP:0001939	Abnormality of metabolism/homeostasis	3913	LAMB2	ORPHA:98915
HP:0001939	Abnormality of metabolism/homeostasis	2683	B4GALT1	ORPHA:79332
HP:0001939	Abnormality of metabolism/homeostasis	353	APRT	ORPHA:976
HP:0001939	Abnormality of metabolism/homeostasis	3423	IDS	ORPHA:217093
HP:0001939	Abnormality of metabolism/homeostasis	3423	IDS	ORPHA:217085
HP:0001939	Abnormality of metabolism/homeostasis	427	ASAH1	ORPHA:333
HP:0001939	Abnormality of metabolism/homeostasis	427	ASAH1	ORPHA:2590
HP:0001939	Abnormality of metabolism/homeostasis	55129	ANO10	ORPHA:284289
HP:0001939	Abnormality of metabolism/homeostasis	4351	MPI	ORPHA:79319
HP:0001939	Abnormality of metabolism/homeostasis	590	BCHE	ORPHA:132
HP:0001939	Abnormality of metabolism/homeostasis	84340	GFM2	ORPHA:565624
HP:0001939	Abnormality of metabolism/homeostasis	210	ALAD	ORPHA:100924
HP:0001939	Abnormality of metabolism/homeostasis	11181	TREH	ORPHA:103909
HP:0001939	Abnormality of metabolism/homeostasis	5257	PHKB	ORPHA:79240
HP:0001939	Abnormality of metabolism/homeostasis	29929	ALG6	ORPHA:79320
HP:0001939	Abnormality of metabolism/homeostasis	1737	DLAT	ORPHA:79244
HP:0001939	Abnormality of metabolism/homeostasis	5351	PLOD1	ORPHA:1900
HP:0001939	Abnormality of metabolism/homeostasis	9526	MPDU1	ORPHA:79323
HP:0001939	Abnormality of metabolism/homeostasis	79087	ALG12	ORPHA:79324
HP:0001939	Abnormality of metabolism/homeostasis	8802	SUCLG1	ORPHA:17
HP:0001939	Abnormality of metabolism/homeostasis	10352	WARS2	ORPHA:572798
HP:0001939	Abnormality of metabolism/homeostasis	28234	SLCO1B3	ORPHA:3111
HP:0001939	Abnormality of metabolism/homeostasis	10599	SLCO1B1	ORPHA:3111
HP:0001939	Abnormality of metabolism/homeostasis	3145	HMBS	ORPHA:79276
HP:0001939	Abnormality of metabolism/homeostasis	760	CA2	ORPHA:2785
HP:0001939	Abnormality of metabolism/homeostasis	54808	DYM	ORPHA:239
HP:0001939	Abnormality of metabolism/homeostasis	2584	GALK1	ORPHA:79237
HP:0001939	Abnormality of metabolism/homeostasis	2318	FLNC	ORPHA:75249
HP:0001939	Abnormality of metabolism/homeostasis	64374	SIL1	ORPHA:559
HP:0001939	Abnormality of metabolism/homeostasis	84892	POMGNT2	ORPHA:899
HP:0001939	Abnormality of metabolism/homeostasis	148789	B3GALNT2	ORPHA:899
HP:0001939	Abnormality of metabolism/homeostasis	79147	FKRP	ORPHA:899
HP:0001939	Abnormality of metabolism/homeostasis	29954	POMT2	ORPHA:899
HP:0001939	Abnormality of metabolism/homeostasis	9215	LARGE1	ORPHA:899
HP:0001939	Abnormality of metabolism/homeostasis	729920	CRPPA	ORPHA:899
HP:0001939	Abnormality of metabolism/homeostasis	10329	RXYLT1	ORPHA:899
HP:0001939	Abnormality of metabolism/homeostasis	1605	DAG1	ORPHA:899
HP:0001939	Abnormality of metabolism/homeostasis	11041	B4GAT1	ORPHA:899
HP:0001939	Abnormality of metabolism/homeostasis	10585	POMT1	ORPHA:899
HP:0001939	Abnormality of metabolism/homeostasis	84197	POMK	ORPHA:899
HP:0001939	Abnormality of metabolism/homeostasis	4967	OGDH	ORPHA:31
HP:0001939	Abnormality of metabolism/homeostasis	9488	PIGB	OMIM:618580
HP:0001939	Abnormality of metabolism/homeostasis	2746	GLUD1	ORPHA:35878
HP:0001939	Abnormality of metabolism/homeostasis	57465	TBC1D24	OMIM:220500
HP:0001939	Abnormality of metabolism/homeostasis	57465	TBC1D24	ORPHA:79500
HP:0001939	Abnormality of metabolism/homeostasis	526	ATP6V1B2	ORPHA:79500
HP:0001939	Abnormality of metabolism/homeostasis	27199	OXGR1	OMIM:620374
HP:0001939	Abnormality of metabolism/homeostasis	26834	RNU4-2	OMIM:620851
HP:0001939	Abnormality of metabolism/homeostasis	50640	PNPLA8	OMIM:251950
HP:0001939	Abnormality of metabolism/homeostasis	1719	DHFR	OMIM:613839
HP:0001939	Abnormality of metabolism/homeostasis	6711	SPTBN1	OMIM:619475
HP:0001939	Abnormality of metabolism/homeostasis	4891	SLC11A2	OMIM:206100
HP:0001939	Abnormality of metabolism/homeostasis	847	CAT	ORPHA:926
HP:0001939	Abnormality of metabolism/homeostasis	847	CAT	OMIM:614097
HP:0001939	Abnormality of metabolism/homeostasis	2592	GALT	ORPHA:79239
HP:0001939	Abnormality of metabolism/homeostasis	10195	ALG3	OMIM:601110
HP:0001939	Abnormality of metabolism/homeostasis	55898	UNC45A	OMIM:619377
HP:0001939	Abnormality of metabolism/homeostasis	84342	COG8	ORPHA:95428
HP:0001939	Abnormality of metabolism/homeostasis	2006	ELN	OMIM:194050
HP:0001939	Abnormality of metabolism/homeostasis	51085	MLXIPL	OMIM:194050
HP:0001939	Abnormality of metabolism/homeostasis	10847	SRCAP	ORPHA:2044
HP:0001939	Abnormality of metabolism/homeostasis	9493	KIF23	OMIM:105600
HP:0001939	Abnormality of metabolism/homeostasis	2815	GP9	ORPHA:274
HP:0001939	Abnormality of metabolism/homeostasis	975	CD81	OMIM:613496
HP:0001939	Abnormality of metabolism/homeostasis	51726	DNAJB11	ORPHA:730
HP:0001939	Abnormality of metabolism/homeostasis	23193	GANAB	ORPHA:730
HP:0001939	Abnormality of metabolism/homeostasis	5310	PKD1	ORPHA:730
HP:0001939	Abnormality of metabolism/homeostasis	5311	PKD2	ORPHA:730
HP:0001939	Abnormality of metabolism/homeostasis	29880	ALG5	ORPHA:730
HP:0001939	Abnormality of metabolism/homeostasis	9742	IFT140	ORPHA:730
HP:0001939	Abnormality of metabolism/homeostasis	79796	ALG9	ORPHA:730
HP:0001939	Abnormality of metabolism/homeostasis	80114	BICC1	ORPHA:730
HP:0001939	Abnormality of metabolism/homeostasis	3766	KCNJ10	ORPHA:199343
HP:0001939	Abnormality of metabolism/homeostasis	51473	DCDC2	ORPHA:84081
HP:0001939	Abnormality of metabolism/homeostasis	91147	TMEM67	ORPHA:84081
HP:0001939	Abnormality of metabolism/homeostasis	375056	MIA3	OMIM:619269
HP:0001939	Abnormality of metabolism/homeostasis	55610	VPS50	OMIM:619685
HP:0001939	Abnormality of metabolism/homeostasis	3291	HSD11B2	ORPHA:320
HP:0001939	Abnormality of metabolism/homeostasis	7994	KAT6A	OMIM:616268
HP:0001939	Abnormality of metabolism/homeostasis	22907	DHX30	OMIM:617804
HP:0001939	Abnormality of metabolism/homeostasis	116931	MED12L	OMIM:618872
HP:0001939	Abnormality of metabolism/homeostasis	28755	TRAC	OMIM:615387
HP:0001939	Abnormality of metabolism/homeostasis	22806	IKZF3	OMIM:619437
HP:0001939	Abnormality of metabolism/homeostasis	5631	PRPS1	ORPHA:411543
HP:0001939	Abnormality of metabolism/homeostasis	5631	PRPS1	ORPHA:411536
HP:0001939	Abnormality of metabolism/homeostasis	1066	CES1	OMIM:618057
HP:0001939	Abnormality of metabolism/homeostasis	5777	PTPN6	ORPHA:3243
HP:0001939	Abnormality of metabolism/homeostasis	7504	XK	OMIM:300842
HP:0001939	Abnormality of metabolism/homeostasis	2694	CBLIF	OMIM:261000
HP:0001939	Abnormality of metabolism/homeostasis	6006	RHCE	ORPHA:71275
HP:0001939	Abnormality of metabolism/homeostasis	64241	ABCG8	OMIM:210250
HP:0001939	Abnormality of metabolism/homeostasis	8838	CCN6	ORPHA:1159
HP:0001939	Abnormality of metabolism/homeostasis	4547	MTTP	ORPHA:14
HP:0001939	Abnormality of metabolism/homeostasis	4175	MCM6	OMIM:223100
HP:0001939	Abnormality of metabolism/homeostasis	23729	SHPK	OMIM:617213
HP:0001939	Abnormality of metabolism/homeostasis	23545	ATP6V0A2	ORPHA:357074
HP:0001939	Abnormality of metabolism/homeostasis	523	ATP6V1A	ORPHA:357074
HP:0001939	Abnormality of metabolism/homeostasis	529	ATP6V1E1	ORPHA:357074
HP:0001939	Abnormality of metabolism/homeostasis	123264	SLC51B	OMIM:619481
HP:0001939	Abnormality of metabolism/homeostasis	147007	TMEM199	OMIM:616829
HP:0001939	Abnormality of metabolism/homeostasis	3931	LCAT	OMIM:245900
HP:0001939	Abnormality of metabolism/homeostasis	5339	PLEC	ORPHA:254361
HP:0001939	Abnormality of metabolism/homeostasis	4609	MYC	ORPHA:543
HP:0001939	Abnormality of metabolism/homeostasis	54888	NSUN2	OMIM:611091
HP:0001939	Abnormality of metabolism/homeostasis	6208	RPS14	ORPHA:86841
HP:0001939	Abnormality of metabolism/homeostasis	54543	TOMM7	OMIM:620601
HP:0001939	Abnormality of metabolism/homeostasis	5805	PTS	OMIM:261640
HP:0001939	Abnormality of metabolism/homeostasis	55768	NGLY1	OMIM:615273
HP:0001939	Abnormality of metabolism/homeostasis	55768	NGLY1	ORPHA:404454
HP:0001939	Abnormality of metabolism/homeostasis	1644	DDC	ORPHA:35708
HP:0001939	Abnormality of metabolism/homeostasis	7080	NKX2-1	ORPHA:95713
HP:0001939	Abnormality of metabolism/homeostasis	2304	FOXE1	ORPHA:95713
HP:0001939	Abnormality of metabolism/homeostasis	5172	SLC26A4	ORPHA:95713
HP:0001939	Abnormality of metabolism/homeostasis	7201	TRHR	ORPHA:99832
HP:0001939	Abnormality of metabolism/homeostasis	2299	FOXI1	OMIM:274600
HP:0001939	Abnormality of metabolism/homeostasis	3937	LCP2	OMIM:619374
HP:0001939	Abnormality of metabolism/homeostasis	64208	POPDC3	OMIM:618848
HP:0001939	Abnormality of metabolism/homeostasis	27040	LAT	OMIM:617514
HP:0001939	Abnormality of metabolism/homeostasis	57591	MRTFA	OMIM:618847
HP:0001939	Abnormality of metabolism/homeostasis	1503	CTPS1	OMIM:615897
HP:0001939	Abnormality of metabolism/homeostasis	3978	LIG1	OMIM:619774
HP:0001939	Abnormality of metabolism/homeostasis	6138	RPL15	ORPHA:124
HP:0001939	Abnormality of metabolism/homeostasis	6138	RPL15	OMIM:615550
HP:0001939	Abnormality of metabolism/homeostasis	6165	RPL35A	ORPHA:124
HP:0001939	Abnormality of metabolism/homeostasis	6132	RPL8	ORPHA:124
HP:0001939	Abnormality of metabolism/homeostasis	6223	RPS19	ORPHA:124
HP:0001939	Abnormality of metabolism/homeostasis	6223	RPS19	OMIM:105650
HP:0001939	Abnormality of metabolism/homeostasis	6232	RPS27	ORPHA:124
HP:0001939	Abnormality of metabolism/homeostasis	55027	HEATR3	ORPHA:124
HP:0001939	Abnormality of metabolism/homeostasis	6160	RPL31	ORPHA:124
HP:0001939	Abnormality of metabolism/homeostasis	6201	RPS7	ORPHA:124
HP:0001939	Abnormality of metabolism/homeostasis	6155	RPL27	ORPHA:124
HP:0001939	Abnormality of metabolism/homeostasis	6234	RPS28	ORPHA:124
HP:0001939	Abnormality of metabolism/homeostasis	6229	RPS24	ORPHA:124
HP:0001939	Abnormality of metabolism/homeostasis	6229	RPS24	OMIM:610629
HP:0001939	Abnormality of metabolism/homeostasis	6125	RPL5	ORPHA:124
HP:0001939	Abnormality of metabolism/homeostasis	6133	RPL9	ORPHA:124
HP:0001939	Abnormality of metabolism/homeostasis	6231	RPS26	ORPHA:124
HP:0001939	Abnormality of metabolism/homeostasis	11224	RPL35	ORPHA:124
HP:0001939	Abnormality of metabolism/homeostasis	6218	RPS17	ORPHA:124
HP:0001939	Abnormality of metabolism/homeostasis	6154	RPL26	ORPHA:124
HP:0001939	Abnormality of metabolism/homeostasis	6210	RPS15A	ORPHA:124
HP:0001939	Abnormality of metabolism/homeostasis	90121	TSR2	ORPHA:124
HP:0001939	Abnormality of metabolism/homeostasis	90121	TSR2	OMIM:300946
HP:0001939	Abnormality of metabolism/homeostasis	6141	RPL18	ORPHA:124
HP:0001939	Abnormality of metabolism/homeostasis	6235	RPS29	ORPHA:124
HP:0001939	Abnormality of metabolism/homeostasis	6235	RPS29	OMIM:615909
HP:0001939	Abnormality of metabolism/homeostasis	23230	VPS13A	ORPHA:2388
HP:0001939	Abnormality of metabolism/homeostasis	5321	PLA2G4A	OMIM:618372
HP:0001939	Abnormality of metabolism/homeostasis	4056	LTC4S	OMIM:614037
HP:0001939	Abnormality of metabolism/homeostasis	79784	MYH14	ORPHA:397744
HP:0001939	Abnormality of metabolism/homeostasis	23019	CNOT1	ORPHA:556955
HP:0001939	Abnormality of metabolism/homeostasis	356	FASLG	ORPHA:3261
HP:0001939	Abnormality of metabolism/homeostasis	2819	GPD1	OMIM:614480
HP:0001939	Abnormality of metabolism/homeostasis	197258	FCSK	OMIM:618324
HP:0001939	Abnormality of metabolism/homeostasis	55340	GIMAP5	OMIM:619463
HP:0001939	Abnormality of metabolism/homeostasis	2313	FLI1	ORPHA:370348
HP:0001939	Abnormality of metabolism/homeostasis	5950	RBP4	OMIM:615147
HP:0001939	Abnormality of metabolism/homeostasis	3117	HLA-DQA1	ORPHA:930
HP:0001939	Abnormality of metabolism/homeostasis	4842	NOS1	ORPHA:930
HP:0001939	Abnormality of metabolism/homeostasis	826	CAPNS1	OMIM:620777
HP:0001939	Abnormality of metabolism/homeostasis	5966	REL	OMIM:619652
HP:0001939	Abnormality of metabolism/homeostasis	2137	EXTL3	ORPHA:508533
HP:0001939	Abnormality of metabolism/homeostasis	5994	RFXAP	ORPHA:572
HP:0001939	Abnormality of metabolism/homeostasis	5993	RFX5	ORPHA:572
HP:0001939	Abnormality of metabolism/homeostasis	8625	RFXANK	ORPHA:572
HP:0001939	Abnormality of metabolism/homeostasis	3551	IKBKB	OMIM:615592
HP:0001939	Abnormality of metabolism/homeostasis	10125	RASGRP1	OMIM:618534
HP:0001939	Abnormality of metabolism/homeostasis	8456	FOXN1	ORPHA:83471
HP:0001939	Abnormality of metabolism/homeostasis	5293	PIK3CD	ORPHA:221139
HP:0001939	Abnormality of metabolism/homeostasis	90417	KNSTRN	ORPHA:221139
HP:0001939	Abnormality of metabolism/homeostasis	3604	TNFRSF9	OMIM:620282
HP:0001939	Abnormality of metabolism/homeostasis	5880	RAC2	OMIM:618986
HP:0001939	Abnormality of metabolism/homeostasis	55719	SLF2	OMIM:620184
HP:0001939	Abnormality of metabolism/homeostasis	5238	PGM3	ORPHA:443811
HP:0001939	Abnormality of metabolism/homeostasis	84433	CARD11	OMIM:615206
HP:0001939	Abnormality of metabolism/homeostasis	50485	SMARCAL1	ORPHA:1830
HP:0001939	Abnormality of metabolism/homeostasis	23765	IL17RA	OMIM:613953
HP:0001939	Abnormality of metabolism/homeostasis	4000	LMNA	ORPHA:300751
HP:0001939	Abnormality of metabolism/homeostasis	4882	NPR2	OMIM:615923
HP:0001939	Abnormality of metabolism/homeostasis	55151	TMEM38B	OMIM:615066
HP:0001939	Abnormality of metabolism/homeostasis	4868	NPHS1	ORPHA:656
HP:0001939	Abnormality of metabolism/homeostasis	64423	INF2	ORPHA:656
HP:0001939	Abnormality of metabolism/homeostasis	26130	GAPVD1	ORPHA:656
HP:0001939	Abnormality of metabolism/homeostasis	7490	WT1	ORPHA:656
HP:0001939	Abnormality of metabolism/homeostasis	51479	ANKFY1	ORPHA:656
HP:0001939	Abnormality of metabolism/homeostasis	54443	ANLN	ORPHA:656
HP:0001939	Abnormality of metabolism/homeostasis	5800	PTPRO	ORPHA:656
HP:0001939	Abnormality of metabolism/homeostasis	286204	CRB2	ORPHA:656
HP:0001939	Abnormality of metabolism/homeostasis	23165	NUP205	ORPHA:656
HP:0001939	Abnormality of metabolism/homeostasis	2013	EMP2	ORPHA:656
HP:0001939	Abnormality of metabolism/homeostasis	79023	NUP37	ORPHA:656
HP:0001939	Abnormality of metabolism/homeostasis	51196	PLCE1	ORPHA:656
HP:0001939	Abnormality of metabolism/homeostasis	79902	NUP85	ORPHA:656
HP:0001939	Abnormality of metabolism/homeostasis	396	ARHGDIA	ORPHA:656
HP:0001939	Abnormality of metabolism/homeostasis	79934	COQ8B	ORPHA:656
HP:0001939	Abnormality of metabolism/homeostasis	23279	NUP160	ORPHA:656
HP:0001939	Abnormality of metabolism/homeostasis	9863	MAGI2	ORPHA:656
HP:0001939	Abnormality of metabolism/homeostasis	81	ACTN4	ORPHA:656
HP:0001939	Abnormality of metabolism/homeostasis	7225	TRPC6	ORPHA:656
HP:0001939	Abnormality of metabolism/homeostasis	8542	APOL1	ORPHA:656
HP:0001939	Abnormality of metabolism/homeostasis	54885	TBC1D8B	ORPHA:656
HP:0001939	Abnormality of metabolism/homeostasis	7827	NPHS2	ORPHA:656
HP:0001939	Abnormality of metabolism/homeostasis	83478	ARHGAP24	ORPHA:656
HP:0001939	Abnormality of metabolism/homeostasis	23500	DAAM2	ORPHA:656
HP:0001939	Abnormality of metabolism/homeostasis	5741	PTH	OMIM:146200
HP:0001939	Abnormality of metabolism/homeostasis	142680	SLC34A3	ORPHA:157215
HP:0001939	Abnormality of metabolism/homeostasis	142680	SLC34A3	OMIM:241530
HP:0001939	Abnormality of metabolism/homeostasis	6905	TBCE	OMIM:241410
HP:0001939	Abnormality of metabolism/homeostasis	7780	SLC30A2	OMIM:608118
HP:0001939	Abnormality of metabolism/homeostasis	85007	PHYKPL	OMIM:615011
HP:0001939	Abnormality of metabolism/homeostasis	164656	TMPRSS6	OMIM:206200
HP:0001939	Abnormality of metabolism/homeostasis	164656	TMPRSS6	ORPHA:209981
HP:0001939	Abnormality of metabolism/homeostasis	23166	STAB1	OMIM:620729
HP:0001939	Abnormality of metabolism/homeostasis	867	CBL	ORPHA:98850
HP:0001939	Abnormality of metabolism/homeostasis	570	BAAT	OMIM:619232
HP:0001939	Abnormality of metabolism/homeostasis	8772	FADD	OMIM:613759
HP:0001939	Abnormality of metabolism/homeostasis	51181	DCXR	ORPHA:2843
HP:0001939	Abnormality of metabolism/homeostasis	644	BLVRA	OMIM:614156
HP:0001939	Abnormality of metabolism/homeostasis	10463	SLC30A9	OMIM:617595
HP:0001939	Abnormality of metabolism/homeostasis	443	ASPA	OMIM:271900
HP:0001939	Abnormality of metabolism/homeostasis	135	ADORA2A	ORPHA:363549
HP:0001939	Abnormality of metabolism/homeostasis	64902	AGXT2	OMIM:210100
HP:0001939	Abnormality of metabolism/homeostasis	6550	SLC9A3	OMIM:616868
HP:0001939	Abnormality of metabolism/homeostasis	24145	PANX1	OMIM:618550
HP:0001939	Abnormality of metabolism/homeostasis	9154	SLC28A1	OMIM:618477
HP:0001939	Abnormality of metabolism/homeostasis	90161	HS6ST2	OMIM:301025
HP:0001939	Abnormality of metabolism/homeostasis	55863	TMEM126B	OMIM:618250
HP:0001939	Abnormality of metabolism/homeostasis	9997	SCO2	OMIM:604377
HP:0001939	Abnormality of metabolism/homeostasis	4716	NDUFB10	OMIM:619003
HP:0001939	Abnormality of metabolism/homeostasis	4704	NDUFA9	OMIM:618247
HP:0001939	Abnormality of metabolism/homeostasis	790955	UQCC3	OMIM:616111
HP:0001939	Abnormality of metabolism/homeostasis	200205	IBA57	OMIM:615330
HP:0001939	Abnormality of metabolism/homeostasis	4705	NDUFA10	OMIM:618243
HP:0001939	Abnormality of metabolism/homeostasis	9692	PRORP	OMIM:619737
HP:0001939	Abnormality of metabolism/homeostasis	54931	TRMT10C	OMIM:616974
HP:0001939	Abnormality of metabolism/homeostasis	23590	PDSS1	OMIM:614651
HP:0001939	Abnormality of metabolism/homeostasis	56997	COQ8A	OMIM:612016
HP:0001939	Abnormality of metabolism/homeostasis	85476	GFM1	OMIM:609060
HP:0001939	Abnormality of metabolism/homeostasis	10102	TSFM	OMIM:610505
HP:0001939	Abnormality of metabolism/homeostasis	1962	EHHADH	ORPHA:3337
HP:0001939	Abnormality of metabolism/homeostasis	2628	GATM	ORPHA:3337
HP:0001939	Abnormality of metabolism/homeostasis	137682	NDUFAF6	ORPHA:3337
HP:0001939	Abnormality of metabolism/homeostasis	6569	SLC34A1	ORPHA:3337
HP:0001939	Abnormality of metabolism/homeostasis	7389	UROD	ORPHA:95159
HP:0001939	Abnormality of metabolism/homeostasis	3570	IL6R	OMIM:618944
HP:0001939	Abnormality of metabolism/homeostasis	6652	SORD	OMIM:618912
HP:0001939	Abnormality of metabolism/homeostasis	5176	SERPINF1	OMIM:613982
HP:0001939	Abnormality of metabolism/homeostasis	5184	PEPD	OMIM:170100
HP:0001939	Abnormality of metabolism/homeostasis	7234	TRU-TCA1-1	OMIM:620198
HP:0001939	Abnormality of metabolism/homeostasis	56984	PSMG2	OMIM:619183
HP:0001939	Abnormality of metabolism/homeostasis	10216	PRG4	ORPHA:2848
HP:0001939	Abnormality of metabolism/homeostasis	5699	PSMB10	OMIM:619175
HP:0001939	Abnormality of metabolism/homeostasis	3954	LETM1	OMIM:620089
HP:0001939	Abnormality of metabolism/homeostasis	8482	SEMA7A	OMIM:619874
HP:0001939	Abnormality of metabolism/homeostasis	1327	COX4I1	OMIM:619060
HP:0001939	Abnormality of metabolism/homeostasis	5092	PCBD1	OMIM:264070
HP:0001939	Abnormality of metabolism/homeostasis	6476	SI	OMIM:222900
HP:0001939	Abnormality of metabolism/homeostasis	85021	REPS1	OMIM:617916
HP:0001939	Abnormality of metabolism/homeostasis	9453	GGPS1	OMIM:619518
HP:0001939	Abnormality of metabolism/homeostasis	1120	CHKB	OMIM:602541
HP:0001939	Abnormality of metabolism/homeostasis	344	APOC2	OMIM:207750
HP:0001939	Abnormality of metabolism/homeostasis	1147	CHUK	OMIM:613630
HP:0001939	Abnormality of metabolism/homeostasis	6555	SLC10A2	OMIM:613291
HP:0001939	Abnormality of metabolism/homeostasis	50619	DEF6	OMIM:619573
HP:0001939	Abnormality of metabolism/homeostasis	22948	CCT5	OMIM:256840
HP:0001939	Abnormality of metabolism/homeostasis	6531	SLC6A3	OMIM:613135
HP:0001939	Abnormality of metabolism/homeostasis	5498	PPOX	OMIM:176200
HP:0001939	Abnormality of metabolism/homeostasis	5498	PPOX	OMIM:620483
HP:0001939	Abnormality of metabolism/homeostasis	27235	COQ2	OMIM:607426
HP:0001939	Abnormality of metabolism/homeostasis	51117	COQ4	OMIM:616276
HP:0001939	Abnormality of metabolism/homeostasis	3818	KLKB1	OMIM:612423
HP:0001939	Abnormality of metabolism/homeostasis	1811	SLC26A3	OMIM:214700
HP:0001939	Abnormality of metabolism/homeostasis	1371	CPOX	OMIM:121300
HP:0001939	Abnormality of metabolism/homeostasis	26227	PHGDH	OMIM:601815
HP:0001939	Abnormality of metabolism/homeostasis	6342	SCP2	OMIM:613724
HP:0001939	Abnormality of metabolism/homeostasis	411	ARSB	OMIM:253200
HP:0001939	Abnormality of metabolism/homeostasis	51293	CD320	OMIM:613646
HP:0001939	Abnormality of metabolism/homeostasis	134218	DNAJC21	OMIM:617052
HP:0001939	Abnormality of metabolism/homeostasis	4173	MCM4	OMIM:609981
HP:0001939	Abnormality of metabolism/homeostasis	1763	DNA2	ORPHA:352470
HP:0001939	Abnormality of metabolism/homeostasis	92667	MGME1	ORPHA:352447
HP:0001939	Abnormality of metabolism/homeostasis	1121	CHM	ORPHA:180
HP:0001939	Abnormality of metabolism/homeostasis	339855	KY	ORPHA:496689
HP:0001939	Abnormality of metabolism/homeostasis	23345	SYNE1	OMIM:618484
HP:0001939	Abnormality of metabolism/homeostasis	23345	SYNE1	ORPHA:319332
HP:0001939	Abnormality of metabolism/homeostasis	1272	CNTN1	OMIM:612540
HP:0001939	Abnormality of metabolism/homeostasis	84466	MEGF10	OMIM:620249
HP:0001939	Abnormality of metabolism/homeostasis	10290	SPEG	OMIM:615959
HP:0001939	Abnormality of metabolism/homeostasis	57731	SPTBN4	OMIM:617519
HP:0001939	Abnormality of metabolism/homeostasis	124093	CCDC78	OMIM:614807
HP:0001939	Abnormality of metabolism/homeostasis	55958	KLHL9	ORPHA:399081
HP:0001939	Abnormality of metabolism/homeostasis	4632	MYL1	OMIM:618414
HP:0001939	Abnormality of metabolism/homeostasis	859	CAV3	ORPHA:488650
HP:0001939	Abnormality of metabolism/homeostasis	2984	GUCY2C	OMIM:614665
HP:0001939	Abnormality of metabolism/homeostasis	152110	NEK10	OMIM:618781
HP:0001939	Abnormality of metabolism/homeostasis	26873	OPLAH	OMIM:260005
HP:0001939	Abnormality of metabolism/homeostasis	3418	IDH2	OMIM:613657
HP:0001939	Abnormality of metabolism/homeostasis	79944	L2HGDH	OMIM:236792
HP:0001939	Abnormality of metabolism/homeostasis	7941	PLA2G7	OMIM:614278
HP:0001939	Abnormality of metabolism/homeostasis	5054	SERPINE1	ORPHA:465
HP:0001939	Abnormality of metabolism/homeostasis	286410	ATP11C	OMIM:301015
HP:0001939	Abnormality of metabolism/homeostasis	917	CD3G	OMIM:615607
HP:0001939	Abnormality of metabolism/homeostasis	8309	ACOX2	OMIM:617308
HP:0001939	Abnormality of metabolism/homeostasis	3945	LDHB	OMIM:614128
HP:0001939	Abnormality of metabolism/homeostasis	5621	PRNP	ORPHA:282166
HP:0001939	Abnormality of metabolism/homeostasis	2917	GRM7	OMIM:618922
HP:0001939	Abnormality of metabolism/homeostasis	51128	SAR1B	ORPHA:71
HP:0001939	Abnormality of metabolism/homeostasis	3376	IARS1	ORPHA:541423
HP:0001939	Abnormality of metabolism/homeostasis	1758	DMP1	ORPHA:289176
HP:0001939	Abnormality of metabolism/homeostasis	6554	SLC10A1	OMIM:619256
HP:0001939	Abnormality of metabolism/homeostasis	6135	RPL11	OMIM:612562
HP:0001939	Abnormality of metabolism/homeostasis	10516	FBLN5	ORPHA:90348
HP:0001939	Abnormality of metabolism/homeostasis	5832	ALDH18A1	ORPHA:90348
HP:0001939	Abnormality of metabolism/homeostasis	6204	RPS10	OMIM:613308
HP:0001939	Abnormality of metabolism/homeostasis	7227	TRPS1	OMIM:190350
HP:0001939	Abnormality of metabolism/homeostasis	54809	SAMD9	OMIM:610455
HP:0001939	Abnormality of metabolism/homeostasis	129607	CMPK2	OMIM:621018
HP:0001939	Abnormality of metabolism/homeostasis	79879	CCDC134	OMIM:619795
HP:0001939	Abnormality of metabolism/homeostasis	100151683	RNU4ATAC	ORPHA:2636
HP:0001939	Abnormality of metabolism/homeostasis	54757	FAM20A	ORPHA:1031
HP:0001939	Abnormality of metabolism/homeostasis	149461	CLDN19	ORPHA:2196
HP:0001939	Abnormality of metabolism/homeostasis	326	AIRE	ORPHA:3453
HP:0001939	Abnormality of metabolism/homeostasis	4952	OCRL	ORPHA:534
HP:0001939	Abnormality of metabolism/homeostasis	8425	LTBP4	OMIM:613177
HP:0001939	Abnormality of metabolism/homeostasis	3321	IGSF3	OMIM:149700
HP:0001939	Abnormality of metabolism/homeostasis	2290	FOXG1	ORPHA:261144
HP:0001939	Abnormality of metabolism/homeostasis	54453	RIN2	OMIM:613075
HP:0001939	Abnormality of metabolism/homeostasis	27316	RBMX	ORPHA:85286
HP:0001939	Abnormality of metabolism/homeostasis	5457	POU4F1	ORPHA:314647
HP:0001939	Abnormality of metabolism/homeostasis	23261	CAMTA1	ORPHA:314647
HP:0001939	Abnormality of metabolism/homeostasis	23261	CAMTA1	OMIM:614756
HP:0001939	Abnormality of metabolism/homeostasis	71	ACTG1	ORPHA:2995
HP:0001939	Abnormality of metabolism/homeostasis	60	ACTB	ORPHA:2995
HP:0001939	Abnormality of metabolism/homeostasis	11133	KPTN	ORPHA:397612
HP:0001939	Abnormality of metabolism/homeostasis	84168	ANTXR1	ORPHA:2067
HP:0001939	Abnormality of metabolism/homeostasis	5723	PSPH	ORPHA:79350
HP:0001939	Abnormality of metabolism/homeostasis	55691	FRMD4A	ORPHA:466688
HP:0001939	Abnormality of metabolism/homeostasis	6440	SFTPC	ORPHA:685082
HP:0001939	Abnormality of metabolism/homeostasis	21	ABCA3	ORPHA:685082
HP:0001939	Abnormality of metabolism/homeostasis	6439	SFTPB	ORPHA:685082
HP:0001939	Abnormality of metabolism/homeostasis	23129	PLXND1	ORPHA:3384
HP:0001939	Abnormality of metabolism/homeostasis	987	LRBA	OMIM:614700
HP:0001939	Abnormality of metabolism/homeostasis	60401	EDA2R	ORPHA:181
HP:0001939	Abnormality of metabolism/homeostasis	83737	ITCH	OMIM:613385
HP:0001939	Abnormality of metabolism/homeostasis	83737	ITCH	ORPHA:228426
HP:0001939	Abnormality of metabolism/homeostasis	284252	KCTD1	ORPHA:2036
HP:0001939	Abnormality of metabolism/homeostasis	5297	PI4KA	ORPHA:436252
HP:0001939	Abnormality of metabolism/homeostasis	9570	GOSR2	OMIM:620166
HP:0001939	Abnormality of metabolism/homeostasis	92345	NAF1	OMIM:620365
HP:0001939	Abnormality of metabolism/homeostasis	1854	DUT	OMIM:620044
HP:0001939	Abnormality of metabolism/homeostasis	51311	TLR8	OMIM:301078
HP:0001939	Abnormality of metabolism/homeostasis	4313	MMP2	ORPHA:371428
HP:0001939	Abnormality of metabolism/homeostasis	4323	MMP14	ORPHA:371428
HP:0001939	Abnormality of metabolism/homeostasis	5336	PLCG2	OMIM:614468
HP:0001939	Abnormality of metabolism/homeostasis	8291	DYSF	ORPHA:268
HP:0001939	Abnormality of metabolism/homeostasis	701	BUB1B	OMIM:176430
HP:0001939	Abnormality of metabolism/homeostasis	701	BUB1B	OMIM:257300
HP:0001939	Abnormality of metabolism/homeostasis	9319	TRIP13	OMIM:617598
HP:0001939	Abnormality of metabolism/homeostasis	776	CACNA1D	ORPHA:369929
HP:0001939	Abnormality of metabolism/homeostasis	776	CACNA1D	OMIM:615474
HP:0001939	Abnormality of metabolism/homeostasis	2908	NR3C1	OMIM:615962
HP:0001939	Abnormality of metabolism/homeostasis	2908	NR3C1	ORPHA:786
HP:0001939	Abnormality of metabolism/homeostasis	1181	CLCN2	ORPHA:404
HP:0001939	Abnormality of metabolism/homeostasis	4539	MT-ND4L	ORPHA:104
HP:0001939	Abnormality of metabolism/homeostasis	5495	PPM1B	ORPHA:163693
HP:0001939	Abnormality of metabolism/homeostasis	6519	SLC3A1	ORPHA:163693
HP:0001939	Abnormality of metabolism/homeostasis	9581	PREPL	ORPHA:163693
HP:0001939	Abnormality of metabolism/homeostasis	79823	CAMKMT	ORPHA:163693
HP:0001939	Abnormality of metabolism/homeostasis	5328	PLAU	OMIM:104300
HP:0001939	Abnormality of metabolism/homeostasis	22934	RPIA	OMIM:608611
HP:0001939	Abnormality of metabolism/homeostasis	3553	IL1B	OMIM:613659
HP:0001939	Abnormality of metabolism/homeostasis	2064	ERBB2	OMIM:613659
HP:0001939	Abnormality of metabolism/homeostasis	324	APC	OMIM:613659
HP:0001939	Abnormality of metabolism/homeostasis	2263	FGFR2	OMIM:613659
HP:0001939	Abnormality of metabolism/homeostasis	1316	KLF6	OMIM:613659
HP:0001939	Abnormality of metabolism/homeostasis	91	ACVR1B	OMIM:260350
HP:0001939	Abnormality of metabolism/homeostasis	6794	STK11	OMIM:260350
HP:0001939	Abnormality of metabolism/homeostasis	3875	KRT18	OMIM:215600
HP:0001939	Abnormality of metabolism/homeostasis	7086	TKT	ORPHA:488618
HP:0001939	Abnormality of metabolism/homeostasis	1340	COX6B1	OMIM:619051
HP:0001939	Abnormality of metabolism/homeostasis	11151	CORO1A	OMIM:615401
HP:0001939	Abnormality of metabolism/homeostasis	55526	DHTKD1	OMIM:204750
HP:0001939	Abnormality of metabolism/homeostasis	53630	BCO1	OMIM:115300
HP:0001939	Abnormality of metabolism/homeostasis	4190	MDH1	OMIM:618959
HP:0001939	Abnormality of metabolism/homeostasis	440	ASNS	OMIM:615574
HP:0001939	Abnormality of metabolism/homeostasis	6533	SLC6A6	OMIM:145350
HP:0001939	Abnormality of metabolism/homeostasis	10295	BCKDK	OMIM:614923
HP:0001939	Abnormality of metabolism/homeostasis	275	AMT	OMIM:620398
HP:0001939	Abnormality of metabolism/homeostasis	6558	SLC12A2	OMIM:619080
HP:0001939	Abnormality of metabolism/homeostasis	149233	IL23R	ORPHA:117
HP:0001939	Abnormality of metabolism/homeostasis	6775	STAT4	ORPHA:117
HP:0001939	Abnormality of metabolism/homeostasis	3586	IL10	ORPHA:117
HP:0001939	Abnormality of metabolism/homeostasis	1230	CCR1	ORPHA:117
HP:0001939	Abnormality of metabolism/homeostasis	355	FAS	ORPHA:117
HP:0001939	Abnormality of metabolism/homeostasis	3592	IL12A	ORPHA:117
HP:0001939	Abnormality of metabolism/homeostasis	101928376	IL12A-AS1	ORPHA:117
HP:0001939	Abnormality of metabolism/homeostasis	3106	HLA-B	ORPHA:117
HP:0001939	Abnormality of metabolism/homeostasis	7099	TLR4	ORPHA:117
HP:0001939	Abnormality of metabolism/homeostasis	3459	IFNGR1	ORPHA:117
HP:0001939	Abnormality of metabolism/homeostasis	720	C4A	ORPHA:117
HP:0001939	Abnormality of metabolism/homeostasis	337867	UBAC2	ORPHA:117
HP:0001939	Abnormality of metabolism/homeostasis	51752	ERAP1	ORPHA:117
HP:0001939	Abnormality of metabolism/homeostasis	8302	KLRC4	ORPHA:117
HP:0001939	Abnormality of metabolism/homeostasis	6448	SGSH	OMIM:252900
HP:0001939	Abnormality of metabolism/homeostasis	383	ARG1	OMIM:207800
HP:0001939	Abnormality of metabolism/homeostasis	4126	MANBA	OMIM:248510
HP:0001939	Abnormality of metabolism/homeostasis	2582	GALE	OMIM:620776
HP:0001939	Abnormality of metabolism/homeostasis	2643	GCH1	OMIM:233910
HP:0001939	Abnormality of metabolism/homeostasis	6535	SLC6A8	OMIM:300352
HP:0001939	Abnormality of metabolism/homeostasis	1727	CYB5R3	OMIM:250800
HP:0001939	Abnormality of metabolism/homeostasis	4864	NPC1	OMIM:257220
HP:0001939	Abnormality of metabolism/homeostasis	1593	CYP27A1	OMIM:213700
HP:0001939	Abnormality of metabolism/homeostasis	51733	UPB1	OMIM:613161
HP:0001939	Abnormality of metabolism/homeostasis	1807	DPYS	OMIM:222748
HP:0001939	Abnormality of metabolism/homeostasis	866	SERPINA6	OMIM:611489
HP:0001939	Abnormality of metabolism/homeostasis	728294	D2HGDH	OMIM:600721
HP:0001939	Abnormality of metabolism/homeostasis	6576	SLC25A1	OMIM:615182
HP:0001939	Abnormality of metabolism/homeostasis	445	ASS1	OMIM:215700
HP:0001939	Abnormality of metabolism/homeostasis	4669	NAGLU	OMIM:252920
HP:0001939	Abnormality of metabolism/homeostasis	158	ADSL	OMIM:103050
HP:0001939	Abnormality of metabolism/homeostasis	8443	GNPAT	OMIM:222765
HP:0001939	Abnormality of metabolism/homeostasis	8540	AGPS	OMIM:600121
HP:0001939	Abnormality of metabolism/homeostasis	31	ACACA	OMIM:613933
HP:0001939	Abnormality of metabolism/homeostasis	8893	EIF2B5	OMIM:620315
HP:0001939	Abnormality of metabolism/homeostasis	3704	ITPA	OMIM:613850
HP:0001939	Abnormality of metabolism/homeostasis	2936	GSR	OMIM:618660
HP:0001939	Abnormality of metabolism/homeostasis	669	BPGM	OMIM:222800
HP:0001939	Abnormality of metabolism/homeostasis	203	AK1	OMIM:612631
HP:0001939	Abnormality of metabolism/homeostasis	3098	HK1	OMIM:235700
HP:0001939	Abnormality of metabolism/homeostasis	1369	CPN1	OMIM:212070
HP:0001939	Abnormality of metabolism/homeostasis	549	AUH	OMIM:250950
HP:0001939	Abnormality of metabolism/homeostasis	2678	GGT1	OMIM:231950
HP:0001939	Abnormality of metabolism/homeostasis	2184	FAH	OMIM:276700
HP:0001939	Abnormality of metabolism/homeostasis	4329	ALDH6A1	OMIM:614105
HP:0001939	Abnormality of metabolism/homeostasis	54658	UGT1A1	OMIM:606785
HP:0001939	Abnormality of metabolism/homeostasis	3034	HAL	OMIM:235800
HP:0001939	Abnormality of metabolism/homeostasis	2222	FDFT1	OMIM:618156
HP:0001939	Abnormality of metabolism/homeostasis	10699	CORIN	OMIM:620734
HP:0001939	Abnormality of metabolism/homeostasis	224	ALDH3A2	OMIM:270200
HP:0001939	Abnormality of metabolism/homeostasis	2593	GAMT	OMIM:612736
HP:0001939	Abnormality of metabolism/homeostasis	191	AHCY	OMIM:613752
HP:0001939	Abnormality of metabolism/homeostasis	6307	MSMO1	OMIM:616834
HP:0001939	Abnormality of metabolism/homeostasis	23474	ETHE1	OMIM:602473
HP:0001939	Abnormality of metabolism/homeostasis	8720	MBTPS1	OMIM:618392
HP:0001939	Abnormality of metabolism/homeostasis	388962	BOLA3	OMIM:614299
HP:0001939	Abnormality of metabolism/homeostasis	11019	LIAS	OMIM:614462
HP:0001939	Abnormality of metabolism/homeostasis	10861	SLC26A1	OMIM:620372
HP:0001939	Abnormality of metabolism/homeostasis	5860	QDPR	OMIM:261630
HP:0001939	Abnormality of metabolism/homeostasis	3373	HYAL1	OMIM:601492
HP:0001939	Abnormality of metabolism/homeostasis	9469	CHST3	OMIM:143095
HP:0011013	Abnormal circulating carbohydrate concentration	51181	DCXR	ORPHA:2843
HP:0011013	Abnormal circulating carbohydrate concentration	2584	GALK1	OMIM:230200
HP:0011013	Abnormal circulating carbohydrate concentration	2584	GALK1	ORPHA:79237
HP:0011013	Abnormal circulating carbohydrate concentration	130589	GALM	ORPHA:570422
HP:0011013	Abnormal circulating carbohydrate concentration	130589	GALM	OMIM:618881
HP:0011013	Abnormal circulating carbohydrate concentration	2592	GALT	OMIM:230400
HP:0011013	Abnormal circulating carbohydrate concentration	10165	SLC25A13	ORPHA:247598
HP:0011013	Abnormal circulating carbohydrate concentration	2582	GALE	OMIM:620776
HP:0011013	Abnormal circulating carbohydrate concentration	2582	GALE	OMIM:230350
HP:0011013	Abnormal circulating carbohydrate concentration	6514	SLC2A2	OMIM:227810
HP:0011013	Abnormal circulating carbohydrate concentration	9652	SKIC3	OMIM:222470
HP:0011013	Abnormal circulating carbohydrate concentration	22934	RPIA	OMIM:608611
HP:0011013	Abnormal circulating carbohydrate concentration	7086	TKT	ORPHA:488618
HP:0011013	Abnormal circulating carbohydrate concentration	6652	SORD	OMIM:618912
HP:0011013	Abnormal circulating carbohydrate concentration	2710	GK	OMIM:307030
HP:0011013	Abnormal circulating carbohydrate concentration	26191	PTPN22	OMIM:222100
HP:0011013	Abnormal circulating carbohydrate concentration	3710	ITPR3	OMIM:222100
HP:0011013	Abnormal circulating carbohydrate concentration	3569	IL6	OMIM:222100
HP:0011013	Abnormal circulating carbohydrate concentration	6927	HNF1A	OMIM:222100
HP:0004365	Abnormal circulating tryptophan concentration	8942	KYNU	ORPHA:79155
HP:0004365	Abnormal circulating tryptophan concentration	6999	TDO2	OMIM:600627
HP:0004364	Abnormal circulating nitrogen compound concentration	1373	CPS1	ORPHA:147
HP:0004364	Abnormal circulating nitrogen compound concentration	1373	CPS1	OMIM:237300
HP:0004364	Abnormal circulating nitrogen compound concentration	5009	OTC	OMIM:311250
HP:0004364	Abnormal circulating nitrogen compound concentration	435	ASL	OMIM:207900
HP:0004364	Abnormal circulating nitrogen compound concentration	445	ASS1	OMIM:215700
HP:0004364	Abnormal circulating nitrogen compound concentration	4594	MMUT	ORPHA:289916
HP:0004364	Abnormal circulating nitrogen compound concentration	4594	MMUT	OMIM:251000
HP:0004364	Abnormal circulating nitrogen compound concentration	4594	MMUT	ORPHA:79312
HP:0004364	Abnormal circulating nitrogen compound concentration	10128	LRPPRC	OMIM:220111
HP:0004364	Abnormal circulating nitrogen compound concentration	3155	HMGCL	ORPHA:20
HP:0004364	Abnormal circulating nitrogen compound concentration	3155	HMGCL	OMIM:246450
HP:0004364	Abnormal circulating nitrogen compound concentration	3376	IARS1	OMIM:617093
HP:0004364	Abnormal circulating nitrogen compound concentration	26235	FBXL4	OMIM:615471
HP:0004364	Abnormal circulating nitrogen compound concentration	763	CA5A	OMIM:615751
HP:0004364	Abnormal circulating nitrogen compound concentration	25821	MTO1	OMIM:614702
HP:0004364	Abnormal circulating nitrogen compound concentration	3032	HADHB	OMIM:620300
HP:0004364	Abnormal circulating nitrogen compound concentration	10102	TSFM	OMIM:610505
HP:0004364	Abnormal circulating nitrogen compound concentration	5095	PCCA	ORPHA:35
HP:0004364	Abnormal circulating nitrogen compound concentration	5095	PCCA	OMIM:606054
HP:0004364	Abnormal circulating nitrogen compound concentration	5096	PCCB	ORPHA:35
HP:0004364	Abnormal circulating nitrogen compound concentration	5096	PCCB	OMIM:606054
HP:0004364	Abnormal circulating nitrogen compound concentration	56945	MRPS22	OMIM:611719
HP:0004364	Abnormal circulating nitrogen compound concentration	3712	IVD	ORPHA:33
HP:0004364	Abnormal circulating nitrogen compound concentration	54968	TMEM70	ORPHA:1194
HP:0004364	Abnormal circulating nitrogen compound concentration	54968	TMEM70	OMIM:614052
HP:0004364	Abnormal circulating nitrogen compound concentration	4141	MARS1	OMIM:615486
HP:0004364	Abnormal circulating nitrogen compound concentration	1376	CPT2	OMIM:600649
HP:0004364	Abnormal circulating nitrogen compound concentration	1376	CPT2	OMIM:608836
HP:0004364	Abnormal circulating nitrogen compound concentration	1376	CPT2	ORPHA:228308
HP:0004364	Abnormal circulating nitrogen compound concentration	790	CAD	OMIM:616457
HP:0004364	Abnormal circulating nitrogen compound concentration	10157	AASS	ORPHA:2203
HP:0004364	Abnormal circulating nitrogen compound concentration	10157	AASS	ORPHA:3124
HP:0004364	Abnormal circulating nitrogen compound concentration	3141	HLCS	OMIM:253270
HP:0004364	Abnormal circulating nitrogen compound concentration	3141	HLCS	ORPHA:79242
HP:0004364	Abnormal circulating nitrogen compound concentration	4204	MECP2	ORPHA:778
HP:0004364	Abnormal circulating nitrogen compound concentration	10166	SLC25A15	ORPHA:415
HP:0004364	Abnormal circulating nitrogen compound concentration	10166	SLC25A15	OMIM:238970
HP:0004364	Abnormal circulating nitrogen compound concentration	10165	SLC25A13	OMIM:603471
HP:0004364	Abnormal circulating nitrogen compound concentration	10165	SLC25A13	ORPHA:247598
HP:0004364	Abnormal circulating nitrogen compound concentration	1340	COX6B1	OMIM:619051
HP:0004364	Abnormal circulating nitrogen compound concentration	1738	DLD	ORPHA:2394
HP:0004364	Abnormal circulating nitrogen compound concentration	60561	RINT1	OMIM:618641
HP:0004364	Abnormal circulating nitrogen compound concentration	4509	MT-ATP8	ORPHA:254913
HP:0004364	Abnormal circulating nitrogen compound concentration	514	ATP5F1E	ORPHA:254913
HP:0004364	Abnormal circulating nitrogen compound concentration	513	ATP5F1D	ORPHA:254913
HP:0004364	Abnormal circulating nitrogen compound concentration	513	ATP5F1D	OMIM:618120
HP:0004364	Abnormal circulating nitrogen compound concentration	498	ATP5F1A	ORPHA:254913
HP:0004364	Abnormal circulating nitrogen compound concentration	498	ATP5F1A	OMIM:620358
HP:0004364	Abnormal circulating nitrogen compound concentration	4508	MT-ATP6	ORPHA:254913
HP:0004364	Abnormal circulating nitrogen compound concentration	84833	ATP5MK	ORPHA:254913
HP:0004364	Abnormal circulating nitrogen compound concentration	91647	ATPAF2	ORPHA:254913
HP:0004364	Abnormal circulating nitrogen compound concentration	4358	MPV17	OMIM:256810
HP:0004364	Abnormal circulating nitrogen compound concentration	686	BTD	OMIM:253260
HP:0004364	Abnormal circulating nitrogen compound concentration	686	BTD	ORPHA:79241
HP:0004364	Abnormal circulating nitrogen compound concentration	64087	MCCC2	OMIM:210210
HP:0004364	Abnormal circulating nitrogen compound concentration	64087	MCCC2	ORPHA:6
HP:0004364	Abnormal circulating nitrogen compound concentration	128989	TANGO2	ORPHA:480864
HP:0004364	Abnormal circulating nitrogen compound concentration	128989	TANGO2	OMIM:616878
HP:0004364	Abnormal circulating nitrogen compound concentration	9056	SLC7A7	OMIM:222700
HP:0004364	Abnormal circulating nitrogen compound concentration	9056	SLC7A7	ORPHA:470
HP:0004364	Abnormal circulating nitrogen compound concentration	64121	RRAGC	OMIM:620609
HP:0004364	Abnormal circulating nitrogen compound concentration	4700	NDUFA6	OMIM:618253
HP:0004364	Abnormal circulating nitrogen compound concentration	9971	NR1H4	OMIM:617049
HP:0004364	Abnormal circulating nitrogen compound concentration	2752	GLUL	OMIM:610015
HP:0004364	Abnormal circulating nitrogen compound concentration	284439	SLC25A42	OMIM:618416
HP:0004364	Abnormal circulating nitrogen compound concentration	6811	STX5	OMIM:620454
HP:0004364	Abnormal circulating nitrogen compound concentration	84947	SERAC1	OMIM:614739
HP:0004364	Abnormal circulating nitrogen compound concentration	28976	ACAD9	ORPHA:99901
HP:0004364	Abnormal circulating nitrogen compound concentration	55186	SLC25A36	OMIM:620211
HP:0004364	Abnormal circulating nitrogen compound concentration	326625	MMAB	OMIM:251110
HP:0004364	Abnormal circulating nitrogen compound concentration	788	SLC25A20	ORPHA:159
HP:0004364	Abnormal circulating nitrogen compound concentration	788	SLC25A20	OMIM:212138
HP:0004364	Abnormal circulating nitrogen compound concentration	383	ARG1	ORPHA:90
HP:0004364	Abnormal circulating nitrogen compound concentration	383	ARG1	OMIM:207800
HP:0004364	Abnormal circulating nitrogen compound concentration	3028	HSD17B10	ORPHA:391428
HP:0004364	Abnormal circulating nitrogen compound concentration	51594	NBAS	OMIM:616483
HP:0004364	Abnormal circulating nitrogen compound concentration	37	ACADVL	OMIM:201475
HP:0004364	Abnormal circulating nitrogen compound concentration	37	ACADVL	ORPHA:26793
HP:0004364	Abnormal circulating nitrogen compound concentration	54914	FOCAD	OMIM:619991
HP:0004364	Abnormal circulating nitrogen compound concentration	166785	MMAA	OMIM:251100
HP:0004364	Abnormal circulating nitrogen compound concentration	162417	NAGS	OMIM:237310
HP:0004364	Abnormal circulating nitrogen compound concentration	162417	NAGS	ORPHA:927
HP:0004364	Abnormal circulating nitrogen compound concentration	7385	UQCRC2	OMIM:615160
HP:0004364	Abnormal circulating nitrogen compound concentration	5162	PDHB	OMIM:614111
HP:0004364	Abnormal circulating nitrogen compound concentration	440138	ALG11	OMIM:613661
HP:0004364	Abnormal circulating nitrogen compound concentration	3033	HADH	ORPHA:71212
HP:0004364	Abnormal circulating nitrogen compound concentration	5832	ALDH18A1	OMIM:219150
HP:0004364	Abnormal circulating nitrogen compound concentration	7284	TUFM	OMIM:610678
HP:0004364	Abnormal circulating nitrogen compound concentration	3030	HADHA	OMIM:609015
HP:0004364	Abnormal circulating nitrogen compound concentration	38	ACAT1	ORPHA:134
HP:0004364	Abnormal circulating nitrogen compound concentration	34	ACADM	ORPHA:42
HP:0004364	Abnormal circulating nitrogen compound concentration	1537	CYC1	OMIM:615453
HP:0004364	Abnormal circulating nitrogen compound concentration	1374	CPT1A	OMIM:255120
HP:0004364	Abnormal circulating nitrogen compound concentration	2806	GOT2	OMIM:618721
HP:0004364	Abnormal circulating nitrogen compound concentration	29960	MRM2	OMIM:618567
HP:0004364	Abnormal circulating nitrogen compound concentration	25974	MMACHC	ORPHA:79282
HP:0004364	Abnormal circulating nitrogen compound concentration	9451	EIF2AK3	ORPHA:1667
HP:0004364	Abnormal circulating nitrogen compound concentration	506	ATP5F1B	OMIM:620085
HP:0004364	Abnormal circulating nitrogen compound concentration	56922	MCCC1	ORPHA:6
HP:0004364	Abnormal circulating nitrogen compound concentration	51117	COQ4	OMIM:616276
HP:0004364	Abnormal circulating nitrogen compound concentration	79587	CARS2	OMIM:616672
HP:0004364	Abnormal circulating nitrogen compound concentration	7388	UQCRH	OMIM:620137
HP:0004364	Abnormal circulating nitrogen compound concentration	6584	SLC22A5	OMIM:212140
HP:0004364	Abnormal circulating nitrogen compound concentration	6309	SC5D	OMIM:607330
HP:0004364	Abnormal circulating nitrogen compound concentration	3251	HPRT1	ORPHA:510
HP:0004364	Abnormal circulating nitrogen compound concentration	3251	HPRT1	OMIM:300322
HP:0004364	Abnormal circulating nitrogen compound concentration	3251	HPRT1	OMIM:300323
HP:0004364	Abnormal circulating nitrogen compound concentration	3251	HPRT1	ORPHA:79233
HP:0004364	Abnormal circulating nitrogen compound concentration	25970	SH2B1	ORPHA:261222
HP:0004364	Abnormal circulating nitrogen compound concentration	5972	REN	OMIM:613092
HP:0004364	Abnormal circulating nitrogen compound concentration	229	ALDOB	OMIM:229600
HP:0004364	Abnormal circulating nitrogen compound concentration	229	ALDOB	ORPHA:469
HP:0004364	Abnormal circulating nitrogen compound concentration	29927	SEC61A1	OMIM:617056
HP:0004364	Abnormal circulating nitrogen compound concentration	29927	SEC61A1	OMIM:620674
HP:0004364	Abnormal circulating nitrogen compound concentration	5631	PRPS1	ORPHA:411543
HP:0004364	Abnormal circulating nitrogen compound concentration	5631	PRPS1	ORPHA:411536
HP:0004364	Abnormal circulating nitrogen compound concentration	5631	PRPS1	OMIM:300661
HP:0004364	Abnormal circulating nitrogen compound concentration	6928	HNF1B	ORPHA:93111
HP:0004364	Abnormal circulating nitrogen compound concentration	6928	HNF1B	OMIM:137920
HP:0004364	Abnormal circulating nitrogen compound concentration	2542	SLC37A4	OMIM:232220
HP:0004364	Abnormal circulating nitrogen compound concentration	2542	SLC37A4	ORPHA:79259
HP:0004364	Abnormal circulating nitrogen compound concentration	2542	SLC37A4	OMIM:232240
HP:0004364	Abnormal circulating nitrogen compound concentration	2203	FBP1	ORPHA:348
HP:0004364	Abnormal circulating nitrogen compound concentration	4609	MYC	ORPHA:543
HP:0004364	Abnormal circulating nitrogen compound concentration	5468	PPARG	OMIM:604367
HP:0004364	Abnormal circulating nitrogen compound concentration	5468	PPARG	ORPHA:79083
HP:0004364	Abnormal circulating nitrogen compound concentration	3998	LMAN1	ORPHA:35909
HP:0004364	Abnormal circulating nitrogen compound concentration	90411	MCFD2	ORPHA:35909
HP:0004364	Abnormal circulating nitrogen compound concentration	4982	TNFRSF11B	ORPHA:2801
HP:0004364	Abnormal circulating nitrogen compound concentration	4982	TNFRSF11B	OMIM:239000
HP:0004364	Abnormal circulating nitrogen compound concentration	8792	TNFRSF11A	ORPHA:2801
HP:0004364	Abnormal circulating nitrogen compound concentration	10686	CLDN16	OMIM:248250
HP:0004364	Abnormal circulating nitrogen compound concentration	150	ADRA2A	OMIM:620679
HP:0004364	Abnormal circulating nitrogen compound concentration	5213	PFKM	ORPHA:371
HP:0004364	Abnormal circulating nitrogen compound concentration	5213	PFKM	OMIM:232800
HP:0004364	Abnormal circulating nitrogen compound concentration	7369	UMOD	OMIM:162000
HP:0004364	Abnormal circulating nitrogen compound concentration	2538	G6PC1	OMIM:232200
HP:0004364	Abnormal circulating nitrogen compound concentration	5837	PYGM	OMIM:232600
HP:0004364	Abnormal circulating nitrogen compound concentration	7840	ALMS1	OMIM:203800
HP:0004364	Abnormal circulating nitrogen compound concentration	5257	PHKB	OMIM:261750
HP:0004364	Abnormal circulating nitrogen compound concentration	4582	MUC1	OMIM:174000
HP:0004364	Abnormal circulating nitrogen compound concentration	5256	PHKA2	OMIM:306000
HP:0004364	Abnormal circulating nitrogen compound concentration	54938	SARS2	OMIM:613845
HP:0004364	Abnormal circulating nitrogen compound concentration	1285	COL4A3	OMIM:104200
HP:0004364	Abnormal circulating nitrogen compound concentration	8882	ZPR1	OMIM:619321
HP:0004364	Abnormal circulating nitrogen compound concentration	8518	ELP1	OMIM:223900
HP:0004364	Abnormal circulating nitrogen compound concentration	1621	DBH	ORPHA:230
HP:0004364	Abnormal circulating nitrogen compound concentration	1621	DBH	OMIM:223360
HP:0004364	Abnormal circulating nitrogen compound concentration	51081	MRPS7	OMIM:617872
HP:0004364	Abnormal circulating nitrogen compound concentration	4179	CD46	OMIM:612922
HP:0004364	Abnormal circulating nitrogen compound concentration	629	CFB	OMIM:612924
HP:0004364	Abnormal circulating nitrogen compound concentration	56606	SLC2A9	ORPHA:94088
HP:0004364	Abnormal circulating nitrogen compound concentration	116085	SLC22A12	ORPHA:94088
HP:0004364	Abnormal circulating nitrogen compound concentration	3426	CFI	OMIM:612923
HP:0004364	Abnormal circulating nitrogen compound concentration	7056	THBD	OMIM:612926
HP:0004364	Abnormal circulating nitrogen compound concentration	718	C3	OMIM:612925
HP:0004364	Abnormal circulating nitrogen compound concentration	1161	ERCC8	ORPHA:90321
HP:0004364	Abnormal circulating nitrogen compound concentration	2072	ERCC4	ORPHA:90321
HP:0004364	Abnormal circulating nitrogen compound concentration	2074	ERCC6	ORPHA:90321
HP:0004364	Abnormal circulating nitrogen compound concentration	5277	PIGA	ORPHA:447
HP:0004364	Abnormal circulating nitrogen compound concentration	11093	ADAMTS13	OMIM:274150
HP:0004364	Abnormal circulating nitrogen compound concentration	10878	CFHR3	OMIM:235400
HP:0004364	Abnormal circulating nitrogen compound concentration	3075	CFH	OMIM:235400
HP:0004364	Abnormal circulating nitrogen compound concentration	3078	CFHR1	OMIM:235400
HP:0004364	Abnormal circulating nitrogen compound concentration	22909	FAN1	OMIM:614817
HP:0004364	Abnormal circulating nitrogen compound concentration	3043	HBB	ORPHA:232
HP:0004364	Abnormal circulating nitrogen compound concentration	5311	PKD2	OMIM:613095
HP:0004364	Abnormal circulating nitrogen compound concentration	5311	PKD2	ORPHA:730
HP:0004364	Abnormal circulating nitrogen compound concentration	595	CCND1	ORPHA:29073
HP:0004364	Abnormal circulating nitrogen compound concentration	57545	CC2D2A	OMIM:619111
HP:0004364	Abnormal circulating nitrogen compound concentration	2321	FLT1	ORPHA:275555
HP:0004364	Abnormal circulating nitrogen compound concentration	219736	STOX1	ORPHA:275555
HP:0004364	Abnormal circulating nitrogen compound concentration	10699	CORIN	ORPHA:275555
HP:0004364	Abnormal circulating nitrogen compound concentration	4867	NPHP1	OMIM:266900
HP:0004364	Abnormal circulating nitrogen compound concentration	10229	COQ7	OMIM:616733
HP:0004364	Abnormal circulating nitrogen compound concentration	1962	EHHADH	OMIM:615605
HP:0004364	Abnormal circulating nitrogen compound concentration	1497	CTNS	OMIM:219750
HP:0004364	Abnormal circulating nitrogen compound concentration	1497	CTNS	ORPHA:411634
HP:0004364	Abnormal circulating nitrogen compound concentration	51726	DNAJB11	ORPHA:730
HP:0004364	Abnormal circulating nitrogen compound concentration	23193	GANAB	ORPHA:730
HP:0004364	Abnormal circulating nitrogen compound concentration	5310	PKD1	ORPHA:730
HP:0004364	Abnormal circulating nitrogen compound concentration	29880	ALG5	ORPHA:730
HP:0004364	Abnormal circulating nitrogen compound concentration	9742	IFT140	ORPHA:730
HP:0004364	Abnormal circulating nitrogen compound concentration	79796	ALG9	ORPHA:730
HP:0004364	Abnormal circulating nitrogen compound concentration	80114	BICC1	ORPHA:730
HP:0004364	Abnormal circulating nitrogen compound concentration	79989	IFT56	OMIM:619534
HP:0004364	Abnormal circulating nitrogen compound concentration	6521	SLC4A1	OMIM:179800
HP:0004364	Abnormal circulating nitrogen compound concentration	54916	TMEM260	OMIM:617478
HP:0004364	Abnormal circulating nitrogen compound concentration	353	APRT	OMIM:614723
HP:0004364	Abnormal circulating nitrogen compound concentration	6522	SLC4A2	OMIM:620366
HP:0004364	Abnormal circulating nitrogen compound concentration	5076	PAX2	OMIM:120330
HP:0004364	Abnormal circulating nitrogen compound concentration	29071	C1GALT1C1	OMIM:301110
HP:0004364	Abnormal circulating nitrogen compound concentration	11277	TREX1	ORPHA:247691
HP:0004364	Abnormal circulating nitrogen compound concentration	254428	SLC41A1	OMIM:619468
HP:0004364	Abnormal circulating nitrogen compound concentration	57728	WDR19	OMIM:614376
HP:0004364	Abnormal circulating nitrogen compound concentration	90523	MLIP	OMIM:620138
HP:0004364	Abnormal circulating nitrogen compound concentration	79053	ALG8	OMIM:608104
HP:0004364	Abnormal circulating nitrogen compound concentration	27130	INVS	OMIM:602088
HP:0004364	Abnormal circulating nitrogen compound concentration	4860	PNP	ORPHA:760
HP:0004364	Abnormal circulating nitrogen compound concentration	4860	PNP	OMIM:613179
HP:0004364	Abnormal circulating nitrogen compound concentration	6514	SLC2A2	OMIM:227810
HP:0004364	Abnormal circulating nitrogen compound concentration	10243	GPHN	OMIM:615501
HP:0004364	Abnormal circulating nitrogen compound concentration	7498	XDH	OMIM:278300
HP:0004364	Abnormal circulating nitrogen compound concentration	4337	MOCS1	OMIM:252150
HP:0004364	Abnormal circulating nitrogen compound concentration	3172	HNF4A	OMIM:616026
HP:0004364	Abnormal circulating nitrogen compound concentration	4338	MOCS2	OMIM:252160
HP:0004364	Abnormal circulating nitrogen compound concentration	540	ATP7B	OMIM:277900
HP:0004364	Abnormal circulating nitrogen compound concentration	55034	MOCOS	OMIM:603592
HP:0004364	Abnormal circulating nitrogen compound concentration	2628	GATM	ORPHA:3337
HP:0004364	Abnormal circulating nitrogen compound concentration	137682	NDUFAF6	ORPHA:3337
HP:0004364	Abnormal circulating nitrogen compound concentration	6569	SLC34A1	ORPHA:3337
HP:0004364	Abnormal circulating nitrogen compound concentration	2746	GLUD1	ORPHA:35878
HP:0004364	Abnormal circulating nitrogen compound concentration	2746	GLUD1	OMIM:606762
HP:0004364	Abnormal circulating nitrogen compound concentration	9380	GRHPR	OMIM:260000
HP:0004364	Abnormal circulating nitrogen compound concentration	4000	LMNA	OMIM:151660
HP:0004364	Abnormal circulating nitrogen compound concentration	4780	NFE2L2	OMIM:617744
HP:0004364	Abnormal circulating nitrogen compound concentration	4907	NT5E	ORPHA:289601
HP:0004364	Abnormal circulating nitrogen compound concentration	2590	GALNT2	OMIM:618885
HP:0004364	Abnormal circulating nitrogen compound concentration	2593	GAMT	OMIM:612736
HP:0004364	Abnormal circulating nitrogen compound concentration	554	AVPR2	OMIM:300539
HP:0004364	Abnormal circulating nitrogen compound concentration	1807	DPYS	OMIM:222748
HP:0004364	Abnormal circulating nitrogen compound concentration	1890	TYMP	OMIM:603041
HP:0004364	Abnormal circulating nitrogen compound concentration	5428	POLG	OMIM:603041
HP:0004364	Abnormal circulating nitrogen compound concentration	6697	SPR	OMIM:612716
HP:0004364	Abnormal circulating nitrogen compound concentration	5092	PCBD1	ORPHA:1578
HP:0004364	Abnormal circulating nitrogen compound concentration	4952	OCRL	ORPHA:534
HP:0004363	Abnormal circulating calcium concentration	83483	PLVAP	OMIM:618183
HP:0004363	Abnormal circulating calcium concentration	7421	VDR	ORPHA:93160
HP:0004363	Abnormal circulating calcium concentration	10312	TCIRG1	OMIM:259700
HP:0004363	Abnormal circulating calcium concentration	10312	TCIRG1	ORPHA:667
HP:0004363	Abnormal circulating calcium concentration	10312	TCIRG1	ORPHA:210110
HP:0004363	Abnormal circulating calcium concentration	857	CAV1	OMIM:612526
HP:0004363	Abnormal circulating calcium concentration	2767	GNA11	ORPHA:428
HP:0004363	Abnormal circulating calcium concentration	2767	GNA11	OMIM:615361
HP:0004363	Abnormal circulating calcium concentration	846	CASR	ORPHA:428
HP:0004363	Abnormal circulating calcium concentration	846	CASR	OMIM:601198
HP:0004363	Abnormal circulating calcium concentration	6261	RYR1	ORPHA:466650
HP:0004363	Abnormal circulating calcium concentration	2778	GNAS	ORPHA:94089
HP:0004363	Abnormal circulating calcium concentration	2778	GNAS	OMIM:603233
HP:0004363	Abnormal circulating calcium concentration	2778	GNAS	OMIM:612462
HP:0004363	Abnormal circulating calcium concentration	2778	GNAS	ORPHA:79443
HP:0004363	Abnormal circulating calcium concentration	2778	GNAS	ORPHA:79444
HP:0004363	Abnormal circulating calcium concentration	2778	GNAS	ORPHA:79445
HP:0004363	Abnormal circulating calcium concentration	8675	STX16	ORPHA:94089
HP:0004363	Abnormal circulating calcium concentration	8675	STX16	OMIM:603233
HP:0004363	Abnormal circulating calcium concentration	1186	CLCN7	ORPHA:667
HP:0004363	Abnormal circulating calcium concentration	1186	CLCN7	ORPHA:210110
HP:0004363	Abnormal circulating calcium concentration	1186	CLCN7	ORPHA:53
HP:0004363	Abnormal circulating calcium concentration	29887	SNX10	ORPHA:667
HP:0004363	Abnormal circulating calcium concentration	8600	TNFSF11	ORPHA:667
HP:0004363	Abnormal circulating calcium concentration	149775	GNAS-AS1	OMIM:603233
HP:0004363	Abnormal circulating calcium concentration	197131	UBR1	OMIM:243800
HP:0004363	Abnormal circulating calcium concentration	3712	IVD	ORPHA:33
HP:0004363	Abnormal circulating calcium concentration	1436	CSF1R	OMIM:618476
HP:0004363	Abnormal circulating calcium concentration	84876	ORAI1	OMIM:615883
HP:0004363	Abnormal circulating calcium concentration	6905	TBCE	ORPHA:2323
HP:0004363	Abnormal circulating calcium concentration	6905	TBCE	OMIM:241410
HP:0004363	Abnormal circulating calcium concentration	6905	TBCE	OMIM:244460
HP:0004363	Abnormal circulating calcium concentration	6905	TBCE	ORPHA:93324
HP:0004363	Abnormal circulating calcium concentration	120227	CYP2R1	OMIM:600081
HP:0004363	Abnormal circulating calcium concentration	120227	CYP2R1	ORPHA:289157
HP:0004363	Abnormal circulating calcium concentration	58528	RRAGD	OMIM:620152
HP:0004363	Abnormal circulating calcium concentration	140803	TRPM6	OMIM:602014
HP:0004363	Abnormal circulating calcium concentration	6023	RMRP	ORPHA:175
HP:0004363	Abnormal circulating calcium concentration	9247	GCM2	OMIM:618883
HP:0004363	Abnormal circulating calcium concentration	9247	GCM2	ORPHA:2239
HP:0004363	Abnormal circulating calcium concentration	6521	SLC4A1	OMIM:179800
HP:0004363	Abnormal circulating calcium concentration	3117	HLA-DQA1	OMIM:212750
HP:0004363	Abnormal circulating calcium concentration	3119	HLA-DQB1	OMIM:212750
HP:0004363	Abnormal circulating calcium concentration	1312	COMT	ORPHA:567
HP:0004363	Abnormal circulating calcium concentration	221037	JMJD1C	ORPHA:567
HP:0004363	Abnormal circulating calcium concentration	2812	GP1BB	ORPHA:567
HP:0004363	Abnormal circulating calcium concentration	6239	RREB1	ORPHA:567
HP:0004363	Abnormal circulating calcium concentration	6899	TBX1	ORPHA:567
HP:0004363	Abnormal circulating calcium concentration	6899	TBX1	OMIM:188400
HP:0004363	Abnormal circulating calcium concentration	6899	TBX1	OMIM:192430
HP:0004363	Abnormal circulating calcium concentration	7290	HIRA	ORPHA:567
HP:0004363	Abnormal circulating calcium concentration	9632	SEC24C	ORPHA:567
HP:0004363	Abnormal circulating calcium concentration	7353	UFD1	ORPHA:567
HP:0004363	Abnormal circulating calcium concentration	421	ARVCF	ORPHA:567
HP:0004363	Abnormal circulating calcium concentration	55764	IFT122	OMIM:218330
HP:0004363	Abnormal circulating calcium concentration	79087	ALG12	OMIM:607143
HP:0004363	Abnormal circulating calcium concentration	1594	CYP27B1	OMIM:264700
HP:0004363	Abnormal circulating calcium concentration	1594	CYP27B1	ORPHA:289157
HP:0004363	Abnormal circulating calcium concentration	55636	CHD7	OMIM:214800
HP:0004363	Abnormal circulating calcium concentration	2783	GNB2	OMIM:619503
HP:0004363	Abnormal circulating calcium concentration	760	CA2	ORPHA:2785
HP:0004363	Abnormal circulating calcium concentration	64864	RFX7	OMIM:620330
HP:0004363	Abnormal circulating calcium concentration	63901	FAM111A	OMIM:602361
HP:0004363	Abnormal circulating calcium concentration	63901	FAM111A	OMIM:127000
HP:0004363	Abnormal circulating calcium concentration	1576	CYP3A4	OMIM:619073
HP:0004363	Abnormal circulating calcium concentration	9842	PLEKHM1	ORPHA:210110
HP:0004363	Abnormal circulating calcium concentration	8074	FGF23	ORPHA:89937
HP:0004363	Abnormal circulating calcium concentration	54914	FOCAD	OMIM:619991
HP:0004363	Abnormal circulating calcium concentration	9508	ADAMTS3	ORPHA:2136
HP:0004363	Abnormal circulating calcium concentration	147372	CCBE1	ORPHA:2136
HP:0004363	Abnormal circulating calcium concentration	79633	FAT4	ORPHA:2136
HP:0004363	Abnormal circulating calcium concentration	3032	HADHB	ORPHA:746
HP:0004363	Abnormal circulating calcium concentration	3030	HADHA	ORPHA:746
HP:0004363	Abnormal circulating calcium concentration	10056	FARSB	OMIM:613658
HP:0004363	Abnormal circulating calcium concentration	130340	AP1S3	ORPHA:247353
HP:0004363	Abnormal circulating calcium concentration	26525	IL36RN	ORPHA:247353
HP:0004363	Abnormal circulating calcium concentration	54487	DGCR8	OMIM:192430
HP:0004363	Abnormal circulating calcium concentration	8214	DGCR6	OMIM:192430
HP:0004363	Abnormal circulating calcium concentration	8220	ESS2	OMIM:192430
HP:0004363	Abnormal circulating calcium concentration	9993	DGCR2	OMIM:192430
HP:0004363	Abnormal circulating calcium concentration	84033	OBSCN	ORPHA:99845
HP:0004363	Abnormal circulating calcium concentration	23175	LPIN1	ORPHA:99845
HP:0004363	Abnormal circulating calcium concentration	4512	MT-CO1	ORPHA:99845
HP:0004363	Abnormal circulating calcium concentration	4514	MT-CO3	ORPHA:99845
HP:0004363	Abnormal circulating calcium concentration	5495	PPM1B	ORPHA:163693
HP:0004363	Abnormal circulating calcium concentration	6519	SLC3A1	ORPHA:163693
HP:0004363	Abnormal circulating calcium concentration	9581	PREPL	ORPHA:163693
HP:0004363	Abnormal circulating calcium concentration	79823	CAMKMT	ORPHA:163693
HP:0004363	Abnormal circulating calcium concentration	695	BTK	ORPHA:47
HP:0004363	Abnormal circulating calcium concentration	775	CACNA1C	OMIM:601005
HP:0004363	Abnormal circulating calcium concentration	5286	PIK3C2A	OMIM:618440
HP:0004363	Abnormal circulating calcium concentration	5286	PIK3C2A	ORPHA:557003
HP:0004363	Abnormal circulating calcium concentration	2625	GATA3	ORPHA:2237
HP:0004363	Abnormal circulating calcium concentration	50943	FOXP3	ORPHA:37042
HP:0004363	Abnormal circulating calcium concentration	5741	PTH	OMIM:146200
HP:0004363	Abnormal circulating calcium concentration	50628	GEMIN4	OMIM:617913
HP:0004363	Abnormal circulating calcium concentration	54532	USP53	OMIM:619658
HP:0004363	Abnormal circulating calcium concentration	28962	OSTM1	OMIM:259720
HP:0004363	Abnormal circulating calcium concentration	37	ACADVL	ORPHA:26793
HP:0004363	Abnormal circulating calcium concentration	406932	MIR140	OMIM:618618
HP:0004363	Abnormal circulating calcium concentration	1497	CTNS	ORPHA:411634
HP:0004363	Abnormal circulating calcium concentration	1188	CLCNKB	ORPHA:358
HP:0004363	Abnormal circulating calcium concentration	6559	SLC12A3	ORPHA:358
HP:0004363	Abnormal circulating calcium concentration	3939	LDHA	ORPHA:284426
HP:0004363	Abnormal circulating calcium concentration	595	CCND1	ORPHA:29073
HP:0004363	Abnormal circulating calcium concentration	51604	PIGT	ORPHA:369837
HP:0004363	Abnormal circulating calcium concentration	6569	SLC34A1	OMIM:616963
HP:0004363	Abnormal circulating calcium concentration	55654	TMEM127	OMIM:171300
HP:0004363	Abnormal circulating calcium concentration	55654	TMEM127	ORPHA:29072
HP:0004363	Abnormal circulating calcium concentration	4149	MAX	OMIM:171300
HP:0004363	Abnormal circulating calcium concentration	4149	MAX	ORPHA:29072
HP:0004363	Abnormal circulating calcium concentration	5979	RET	OMIM:171300
HP:0004363	Abnormal circulating calcium concentration	5979	RET	ORPHA:29072
HP:0004363	Abnormal circulating calcium concentration	5979	RET	ORPHA:276621
HP:0004363	Abnormal circulating calcium concentration	7428	VHL	OMIM:171300
HP:0004363	Abnormal circulating calcium concentration	7428	VHL	ORPHA:29072
HP:0004363	Abnormal circulating calcium concentration	7428	VHL	ORPHA:276621
HP:0004363	Abnormal circulating calcium concentration	1743	DLST	ORPHA:29072
HP:0004363	Abnormal circulating calcium concentration	4191	MDH2	ORPHA:29072
HP:0004363	Abnormal circulating calcium concentration	6389	SDHA	ORPHA:29072
HP:0004363	Abnormal circulating calcium concentration	23095	KIF1B	ORPHA:29072
HP:0004363	Abnormal circulating calcium concentration	2271	FH	ORPHA:29072
HP:0004363	Abnormal circulating calcium concentration	8402	SLC25A11	ORPHA:29072
HP:0004363	Abnormal circulating calcium concentration	54949	SDHAF2	ORPHA:29072
HP:0004363	Abnormal circulating calcium concentration	4763	NF1	ORPHA:29072
HP:0004363	Abnormal circulating calcium concentration	6391	SDHC	ORPHA:29072
HP:0004363	Abnormal circulating calcium concentration	6392	SDHD	ORPHA:29072
HP:0004363	Abnormal circulating calcium concentration	6392	SDHD	ORPHA:276621
HP:0004363	Abnormal circulating calcium concentration	6390	SDHB	ORPHA:29072
HP:0004363	Abnormal circulating calcium concentration	6390	SDHB	ORPHA:276621
HP:0004363	Abnormal circulating calcium concentration	6804	STX1A	ORPHA:904
HP:0004363	Abnormal circulating calcium concentration	7461	CLIP2	ORPHA:904
HP:0004363	Abnormal circulating calcium concentration	84277	DNAJC30	ORPHA:904
HP:0004363	Abnormal circulating calcium concentration	8468	FKBP6	ORPHA:904
HP:0004363	Abnormal circulating calcium concentration	5982	RFC2	ORPHA:904
HP:0004363	Abnormal circulating calcium concentration	2969	GTF2I	ORPHA:904
HP:0004363	Abnormal circulating calcium concentration	3984	LIMK1	ORPHA:904
HP:0004363	Abnormal circulating calcium concentration	9569	GTF2IRD1	ORPHA:904
HP:0004363	Abnormal circulating calcium concentration	155382	VPS37D	ORPHA:904
HP:0004363	Abnormal circulating calcium concentration	155368	METTL27	ORPHA:904
HP:0004363	Abnormal circulating calcium concentration	114049	BUD23	ORPHA:904
HP:0004363	Abnormal circulating calcium concentration	7458	EIF4H	ORPHA:904
HP:0004363	Abnormal circulating calcium concentration	84163	GTF2IRD2	ORPHA:904
HP:0004363	Abnormal circulating calcium concentration	26608	TBL2	ORPHA:904
HP:0004363	Abnormal circulating calcium concentration	653361	NCF1	ORPHA:904
HP:0004363	Abnormal circulating calcium concentration	135886	TMEM270	ORPHA:904
HP:0004363	Abnormal circulating calcium concentration	9031	BAZ1B	ORPHA:904
HP:0004363	Abnormal circulating calcium concentration	2006	ELN	ORPHA:904
HP:0004363	Abnormal circulating calcium concentration	2006	ELN	OMIM:194050
HP:0004363	Abnormal circulating calcium concentration	596	BCL2	ORPHA:545
HP:0004363	Abnormal circulating calcium concentration	3492	IGH	ORPHA:545
HP:0004363	Abnormal circulating calcium concentration	3123	HLA-DRB1	ORPHA:545
HP:0004363	Abnormal circulating calcium concentration	3123	HLA-DRB1	ORPHA:797
HP:0004363	Abnormal circulating calcium concentration	604	BCL6	ORPHA:545
HP:0004363	Abnormal circulating calcium concentration	64324	NSD1	ORPHA:821
HP:0004363	Abnormal circulating calcium concentration	10297	APC2	ORPHA:821
HP:0004363	Abnormal circulating calcium concentration	79577	CDC73	ORPHA:143
HP:0004363	Abnormal circulating calcium concentration	79577	CDC73	OMIM:145000
HP:0004363	Abnormal circulating calcium concentration	79577	CDC73	OMIM:145001
HP:0004363	Abnormal circulating calcium concentration	79577	CDC73	ORPHA:99880
HP:0004363	Abnormal circulating calcium concentration	79577	CDC73	ORPHA:99879
HP:0004363	Abnormal circulating calcium concentration	79577	CDC73	OMIM:608266
HP:0004363	Abnormal circulating calcium concentration	249	ALPL	OMIM:241500
HP:0004363	Abnormal circulating calcium concentration	7204	TRIO	ORPHA:476126
HP:0004363	Abnormal circulating calcium concentration	6523	SLC5A1	ORPHA:35710
HP:0004363	Abnormal circulating calcium concentration	51085	MLXIPL	OMIM:194050
HP:0004363	Abnormal circulating calcium concentration	5978	REST	ORPHA:654
HP:0004363	Abnormal circulating calcium concentration	129563	DIS3L2	ORPHA:654
HP:0004363	Abnormal circulating calcium concentration	675	BRCA2	ORPHA:654
HP:0004363	Abnormal circulating calcium concentration	9319	TRIP13	ORPHA:654
HP:0004363	Abnormal circulating calcium concentration	7490	WT1	ORPHA:654
HP:0004363	Abnormal circulating calcium concentration	10155	TRIM28	ORPHA:654
HP:0004363	Abnormal circulating calcium concentration	11281	POU6F2	ORPHA:654
HP:0004363	Abnormal circulating calcium concentration	2719	GPC3	ORPHA:654
HP:0004363	Abnormal circulating calcium concentration	283120	H19	ORPHA:654
HP:0004363	Abnormal circulating calcium concentration	4221	MEN1	ORPHA:652
HP:0004363	Abnormal circulating calcium concentration	4221	MEN1	OMIM:131100
HP:0004363	Abnormal circulating calcium concentration	4221	MEN1	ORPHA:99879
HP:0004363	Abnormal circulating calcium concentration	1027	CDKN1B	ORPHA:652
HP:0004363	Abnormal circulating calcium concentration	1027	CDKN1B	ORPHA:276152
HP:0004363	Abnormal circulating calcium concentration	1026	CDKN1A	ORPHA:652
HP:0004363	Abnormal circulating calcium concentration	1030	CDKN2B	ORPHA:652
HP:0004363	Abnormal circulating calcium concentration	1031	CDKN2C	ORPHA:652
HP:0004363	Abnormal circulating calcium concentration	4854	NOTCH3	ORPHA:2591
HP:0004363	Abnormal circulating calcium concentration	5745	PTH1R	OMIM:156400
HP:0004363	Abnormal circulating calcium concentration	9365	KL	OMIM:617994
HP:0004363	Abnormal circulating calcium concentration	56172	ANKH	OMIM:123000
HP:0004363	Abnormal circulating calcium concentration	2591	GALNT3	OMIM:211900
HP:0004363	Abnormal circulating calcium concentration	1788	DNMT3A	ORPHA:276621
HP:0004363	Abnormal circulating calcium concentration	2034	EPAS1	ORPHA:276621
HP:0004363	Abnormal circulating calcium concentration	6557	SLC12A1	OMIM:601678
HP:0004363	Abnormal circulating calcium concentration	1175	AP2S1	OMIM:600740
HP:0004363	Abnormal circulating calcium concentration	7543	ZFX	OMIM:301118
HP:0004363	Abnormal circulating calcium concentration	1591	CYP24A1	OMIM:143880
HP:0004363	Abnormal circulating calcium concentration	8792	TNFRSF11A	OMIM:602080
HP:0004363	Abnormal circulating calcium concentration	1028	CDKN1C	OMIM:614732
HP:0004363	Abnormal circulating calcium concentration	78987	CRELD1	OMIM:620771
HP:0004363	Abnormal circulating calcium concentration	56244	BTNL2	ORPHA:797
HP:0004363	Abnormal circulating calcium concentration	326	AIRE	OMIM:240300
HP:0004363	Abnormal circulating calcium concentration	1758	DMP1	ORPHA:289176
HP:0004363	Abnormal circulating calcium concentration	5167	ENPP1	ORPHA:289176
HP:0004363	Abnormal circulating calcium concentration	8456	FOXN1	ORPHA:83471
HP:0004363	Abnormal circulating calcium concentration	149461	CLDN19	OMIM:248190
HP:0004363	Abnormal circulating calcium concentration	5251	PHEX	OMIM:307800
HP:0004363	Abnormal circulating calcium concentration	7227	TRPS1	OMIM:190350
HP:0004363	Abnormal circulating calcium concentration	10686	CLDN16	OMIM:248250
HP:0004363	Abnormal circulating calcium concentration	54809	SAMD9	OMIM:610455
HP:0004363	Abnormal circulating calcium concentration	129607	CMPK2	OMIM:621018
HP:0004363	Abnormal circulating calcium concentration	6575	SLC20A2	OMIM:213600
HP:0004363	Abnormal circulating calcium concentration	5159	PDGFRB	OMIM:213600
HP:0004363	Abnormal circulating calcium concentration	5155	PDGFB	OMIM:213600
HP:0004363	Abnormal circulating calcium concentration	55811	ADCY10	ORPHA:2197
HP:0004363	Abnormal circulating calcium concentration	79879	CCDC134	OMIM:619795
HP:0004363	Abnormal circulating calcium concentration	10568	SLC34A2	ORPHA:60025
HP:0004363	Abnormal circulating calcium concentration	142680	SLC34A3	OMIM:241530
HP:0004363	Abnormal circulating calcium concentration	55151	TMEM38B	OMIM:615066
HP:0004361	Abnormal circulating leptin concentration	10269	ZMPSTE24	ORPHA:740
HP:0004361	Abnormal circulating leptin concentration	26580	BSCL2	OMIM:269700
HP:0004361	Abnormal circulating leptin concentration	3763	KCNJ6	OMIM:614098
HP:0004361	Abnormal circulating leptin concentration	63924	CIDEC	ORPHA:435651
HP:0004361	Abnormal circulating leptin concentration	63924	CIDEC	OMIM:615238
HP:0004361	Abnormal circulating leptin concentration	3952	LEP	OMIM:614962
HP:0004361	Abnormal circulating leptin concentration	3952	LEP	ORPHA:66628
HP:0004361	Abnormal circulating leptin concentration	3991	LIPE	ORPHA:435660
HP:0004361	Abnormal circulating leptin concentration	8815	BANF1	OMIM:614008
HP:0004361	Abnormal circulating leptin concentration	3953	LEPR	ORPHA:179494
HP:0004361	Abnormal circulating leptin concentration	208	AKT2	ORPHA:79085
HP:0004361	Abnormal circulating leptin concentration	10555	AGPAT2	OMIM:608594
HP:0004361	Abnormal circulating leptin concentration	4000	LMNA	ORPHA:79474
HP:0004361	Abnormal circulating leptin concentration	109	ADCY3	OMIM:617885
HP:0004361	Abnormal circulating leptin concentration	4204	MECP2	ORPHA:778
HP:0004360	Abnormality of acid-base homeostasis	38	ACAT1	ORPHA:134
HP:0004360	Abnormality of acid-base homeostasis	57724	EPG5	OMIM:242840
HP:0004360	Abnormality of acid-base homeostasis	197322	ACSF3	ORPHA:289504
HP:0004360	Abnormality of acid-base homeostasis	1583	CYP11A1	ORPHA:289548
HP:0004360	Abnormality of acid-base homeostasis	1583	CYP11A1	ORPHA:168558
HP:0004360	Abnormality of acid-base homeostasis	6514	SLC2A2	OMIM:227810
HP:0004360	Abnormality of acid-base homeostasis	4695	NDUFA2	OMIM:618235
HP:0004360	Abnormality of acid-base homeostasis	27247	NFU1	OMIM:620938
HP:0004360	Abnormality of acid-base homeostasis	29960	MRM2	OMIM:618567
HP:0004360	Abnormality of acid-base homeostasis	10686	CLDN16	OMIM:248250
HP:0004360	Abnormality of acid-base homeostasis	3773	KCNJ16	OMIM:619406
HP:0004360	Abnormality of acid-base homeostasis	2110	ETFDH	OMIM:231680
HP:0004360	Abnormality of acid-base homeostasis	2108	ETFA	OMIM:231680
HP:0004360	Abnormality of acid-base homeostasis	2109	ETFB	OMIM:231680
HP:0004360	Abnormality of acid-base homeostasis	1497	CTNS	ORPHA:411629
HP:0004360	Abnormality of acid-base homeostasis	83483	PLVAP	OMIM:618183
HP:0004360	Abnormality of acid-base homeostasis	3155	HMGCL	ORPHA:20
HP:0004360	Abnormality of acid-base homeostasis	3155	HMGCL	OMIM:246450
HP:0004360	Abnormality of acid-base homeostasis	1738	DLD	OMIM:246900
HP:0004360	Abnormality of acid-base homeostasis	5076	PAX2	ORPHA:97362
HP:0004360	Abnormality of acid-base homeostasis	5087	PBX1	ORPHA:97362
HP:0004360	Abnormality of acid-base homeostasis	26235	FBXL4	OMIM:615471
HP:0004360	Abnormality of acid-base homeostasis	374291	NDUFS7	OMIM:618224
HP:0004360	Abnormality of acid-base homeostasis	229	ALDOB	OMIM:229600
HP:0004360	Abnormality of acid-base homeostasis	229	ALDOB	ORPHA:469
HP:0004360	Abnormality of acid-base homeostasis	4723	NDUFV1	OMIM:618225
HP:0004360	Abnormality of acid-base homeostasis	57128	LYRM4	OMIM:615595
HP:0004360	Abnormality of acid-base homeostasis	6809	STX3	ORPHA:2290
HP:0004360	Abnormality of acid-base homeostasis	6809	STX3	OMIM:619445
HP:0004360	Abnormality of acid-base homeostasis	4645	MYO5B	ORPHA:2290
HP:0004360	Abnormality of acid-base homeostasis	79827	CLMP	OMIM:615237
HP:0004360	Abnormality of acid-base homeostasis	763	CA5A	OMIM:615751
HP:0004360	Abnormality of acid-base homeostasis	4719	NDUFS1	OMIM:618226
HP:0004360	Abnormality of acid-base homeostasis	25821	MTO1	OMIM:614702
HP:0004360	Abnormality of acid-base homeostasis	4967	OGDH	OMIM:203740
HP:0004360	Abnormality of acid-base homeostasis	23417	MLYCD	OMIM:248360
HP:0004360	Abnormality of acid-base homeostasis	4720	NDUFS2	OMIM:618228
HP:0004360	Abnormality of acid-base homeostasis	2653	GCSH	OMIM:620423
HP:0004360	Abnormality of acid-base homeostasis	5250	SLC25A3	ORPHA:91130
HP:0004360	Abnormality of acid-base homeostasis	5250	SLC25A3	OMIM:610773
HP:0004360	Abnormality of acid-base homeostasis	3032	HADHB	OMIM:620300
HP:0004360	Abnormality of acid-base homeostasis	132158	GLYCTK	ORPHA:941
HP:0004360	Abnormality of acid-base homeostasis	132158	GLYCTK	OMIM:220120
HP:0004360	Abnormality of acid-base homeostasis	779	CACNA1S	ORPHA:423
HP:0004360	Abnormality of acid-base homeostasis	6261	RYR1	ORPHA:423
HP:0004360	Abnormality of acid-base homeostasis	56945	MRPS22	OMIM:611719
HP:0004360	Abnormality of acid-base homeostasis	3028	HSD17B10	ORPHA:391457
HP:0004360	Abnormality of acid-base homeostasis	3028	HSD17B10	ORPHA:391428
HP:0004360	Abnormality of acid-base homeostasis	3028	HSD17B10	OMIM:300438
HP:0004360	Abnormality of acid-base homeostasis	3712	IVD	ORPHA:33
HP:0004360	Abnormality of acid-base homeostasis	3712	IVD	OMIM:243500
HP:0004360	Abnormality of acid-base homeostasis	9380	GRHPR	OMIM:260000
HP:0004360	Abnormality of acid-base homeostasis	26275	HIBCH	ORPHA:88639
HP:0004360	Abnormality of acid-base homeostasis	6341	SCO1	OMIM:619048
HP:0004360	Abnormality of acid-base homeostasis	23395	LARS2	OMIM:617021
HP:0004360	Abnormality of acid-base homeostasis	51103	NDUFAF1	OMIM:618234
HP:0004360	Abnormality of acid-base homeostasis	5160	PDHA1	OMIM:312170
HP:0004360	Abnormality of acid-base homeostasis	1352	COX10	OMIM:619046
HP:0004360	Abnormality of acid-base homeostasis	3141	HLCS	OMIM:253270
HP:0004360	Abnormality of acid-base homeostasis	29078	NDUFAF4	OMIM:618237
HP:0004360	Abnormality of acid-base homeostasis	55163	PNPO	ORPHA:79096
HP:0004360	Abnormality of acid-base homeostasis	55163	PNPO	OMIM:610090
HP:0004360	Abnormality of acid-base homeostasis	3242	HPD	OMIM:140350
HP:0004360	Abnormality of acid-base homeostasis	3242	HPD	ORPHA:2118
HP:0004360	Abnormality of acid-base homeostasis	2710	GK	OMIM:307030
HP:0004360	Abnormality of acid-base homeostasis	58528	RRAGD	OMIM:620152
HP:0004360	Abnormality of acid-base homeostasis	1340	COX6B1	OMIM:619051
HP:0004360	Abnormality of acid-base homeostasis	84987	COX14	OMIM:619053
HP:0004360	Abnormality of acid-base homeostasis	8671	SLC4A4	OMIM:604278
HP:0004360	Abnormality of acid-base homeostasis	54539	NDUFB11	OMIM:301021
HP:0004360	Abnormality of acid-base homeostasis	3938	LCT	OMIM:223000
HP:0004360	Abnormality of acid-base homeostasis	57551	TAOK1	OMIM:619575
HP:0004360	Abnormality of acid-base homeostasis	2937	GSS	OMIM:231900
HP:0004360	Abnormality of acid-base homeostasis	34	ACADM	OMIM:201450
HP:0004360	Abnormality of acid-base homeostasis	100131801	PET100	OMIM:619055
HP:0004360	Abnormality of acid-base homeostasis	50619	DEF6	OMIM:619573
HP:0004360	Abnormality of acid-base homeostasis	388753	COA6	OMIM:616501
HP:0004360	Abnormality of acid-base homeostasis	11232	POLG2	OMIM:618528
HP:0004360	Abnormality of acid-base homeostasis	10616	RBCK1	OMIM:615895
HP:0004360	Abnormality of acid-base homeostasis	353	APRT	OMIM:614723
HP:0004360	Abnormality of acid-base homeostasis	64087	MCCC2	OMIM:210210
HP:0004360	Abnormality of acid-base homeostasis	549	AUH	OMIM:250950
HP:0004360	Abnormality of acid-base homeostasis	84693	MCEE	OMIM:251120
HP:0004360	Abnormality of acid-base homeostasis	6821	SUOX	OMIM:272300
HP:0004360	Abnormality of acid-base homeostasis	5095	PCCA	OMIM:606054
HP:0004360	Abnormality of acid-base homeostasis	5096	PCCB	OMIM:606054
HP:0004360	Abnormality of acid-base homeostasis	3158	HMGCS2	OMIM:605911
HP:0004360	Abnormality of acid-base homeostasis	26276	VPS33B	OMIM:208085
HP:0004360	Abnormality of acid-base homeostasis	1594	CYP27B1	OMIM:264700
HP:0004360	Abnormality of acid-base homeostasis	4714	NDUFB8	OMIM:618252
HP:0004360	Abnormality of acid-base homeostasis	4700	NDUFA6	OMIM:618253
HP:0004360	Abnormality of acid-base homeostasis	55065	SLC52A1	OMIM:615026
HP:0004360	Abnormality of acid-base homeostasis	284184	NDUFAF8	OMIM:618776
HP:0004360	Abnormality of acid-base homeostasis	84300	UQCC2	OMIM:615824
HP:0004360	Abnormality of acid-base homeostasis	128989	TANGO2	OMIM:616878
HP:0004360	Abnormality of acid-base homeostasis	63894	VIPAS39	OMIM:613404
HP:0004360	Abnormality of acid-base homeostasis	326625	MMAB	OMIM:251110
HP:0004360	Abnormality of acid-base homeostasis	60386	SLC25A19	ORPHA:99742
HP:0004360	Abnormality of acid-base homeostasis	760	CA2	ORPHA:2785
HP:0004360	Abnormality of acid-base homeostasis	2074	ERCC6	OMIM:214150
HP:0004360	Abnormality of acid-base homeostasis	11212	PLPBP	OMIM:617290
HP:0004360	Abnormality of acid-base homeostasis	6521	SLC4A1	OMIM:611590
HP:0004360	Abnormality of acid-base homeostasis	54914	FOCAD	OMIM:619991
HP:0004360	Abnormality of acid-base homeostasis	7381	UQCRB	OMIM:615158
HP:0004360	Abnormality of acid-base homeostasis	189	AGXT	OMIM:259900
HP:0004360	Abnormality of acid-base homeostasis	189	AGXT	ORPHA:93598
HP:0004360	Abnormality of acid-base homeostasis	2592	GALT	OMIM:230400
HP:0004360	Abnormality of acid-base homeostasis	4329	ALDH6A1	OMIM:614105
HP:0004360	Abnormality of acid-base homeostasis	10128	LRPPRC	ORPHA:70472
HP:0004360	Abnormality of acid-base homeostasis	2203	FBP1	ORPHA:348
HP:0004360	Abnormality of acid-base homeostasis	2203	FBP1	OMIM:229700
HP:0004360	Abnormality of acid-base homeostasis	166785	MMAA	OMIM:251100
HP:0004360	Abnormality of acid-base homeostasis	6523	SLC5A1	OMIM:606824
HP:0004360	Abnormality of acid-base homeostasis	8050	PDHX	OMIM:245349
HP:0004360	Abnormality of acid-base homeostasis	6340	SCNN1G	ORPHA:171876
HP:0004360	Abnormality of acid-base homeostasis	6340	SCNN1G	OMIM:620126
HP:0004360	Abnormality of acid-base homeostasis	6337	SCNN1A	ORPHA:171876
HP:0004360	Abnormality of acid-base homeostasis	6337	SCNN1A	OMIM:264350
HP:0004360	Abnormality of acid-base homeostasis	6338	SCNN1B	ORPHA:171876
HP:0004360	Abnormality of acid-base homeostasis	6338	SCNN1B	OMIM:620125
HP:0004360	Abnormality of acid-base homeostasis	7385	UQCRC2	OMIM:615160
HP:0004360	Abnormality of acid-base homeostasis	2628	GATM	OMIM:134600
HP:0004360	Abnormality of acid-base homeostasis	27068	PPA2	OMIM:617222
HP:0004360	Abnormality of acid-base homeostasis	4306	NR3C2	OMIM:177735
HP:0004360	Abnormality of acid-base homeostasis	28957	MRPS28	OMIM:618958
HP:0004360	Abnormality of acid-base homeostasis	7284	TUFM	OMIM:610678
HP:0004360	Abnormality of acid-base homeostasis	1962	EHHADH	OMIM:615605
HP:0004360	Abnormality of acid-base homeostasis	2271	FH	OMIM:606812
HP:0004360	Abnormality of acid-base homeostasis	7369	UMOD	OMIM:162000
HP:0004360	Abnormality of acid-base homeostasis	79989	IFT56	OMIM:619534
HP:0004360	Abnormality of acid-base homeostasis	3172	HNF4A	OMIM:616026
HP:0004360	Abnormality of acid-base homeostasis	3762	KCNJ5	OMIM:613677
HP:0004360	Abnormality of acid-base homeostasis	25974	MMACHC	ORPHA:79282
HP:0004360	Abnormality of acid-base homeostasis	25974	MMACHC	OMIM:277400
HP:0004360	Abnormality of acid-base homeostasis	2184	FAH	OMIM:276700
HP:0004360	Abnormality of acid-base homeostasis	1807	DPYS	OMIM:222748
HP:0004360	Abnormality of acid-base homeostasis	1376	CPT2	ORPHA:228308
HP:0004360	Abnormality of acid-base homeostasis	2542	SLC37A4	OMIM:232240
HP:0004360	Abnormality of acid-base homeostasis	2639	GCDH	OMIM:231670
HP:0004360	Abnormality of acid-base homeostasis	37	ACADVL	ORPHA:26793
HP:0004360	Abnormality of acid-base homeostasis	50617	ATP6V0A4	OMIM:602722
HP:0004360	Abnormality of acid-base homeostasis	57505	AARS2	OMIM:614096
HP:0004360	Abnormality of acid-base homeostasis	65125	WNK1	OMIM:614492
HP:0004360	Abnormality of acid-base homeostasis	51733	UPB1	OMIM:613161
HP:0004360	Abnormality of acid-base homeostasis	8452	CUL3	OMIM:614496
HP:0004360	Abnormality of acid-base homeostasis	9054	NFS1	OMIM:619386
HP:0004360	Abnormality of acid-base homeostasis	133686	NADK2	OMIM:616034
HP:0004360	Abnormality of acid-base homeostasis	35	ACADS	ORPHA:26792
HP:0004360	Abnormality of acid-base homeostasis	7388	UQCRH	OMIM:620137
HP:0004360	Abnormality of acid-base homeostasis	8942	KYNU	ORPHA:79155
HP:0004360	Abnormality of acid-base homeostasis	5052	PRDX1	OMIM:277400
HP:0004360	Abnormality of acid-base homeostasis	1374	CPT1A	ORPHA:156
HP:0004360	Abnormality of acid-base homeostasis	1374	CPT1A	OMIM:255120
HP:0004360	Abnormality of acid-base homeostasis	525	ATP6V1B1	OMIM:267300
HP:0004360	Abnormality of acid-base homeostasis	4853	NOTCH2	OMIM:610205
HP:0004360	Abnormality of acid-base homeostasis	790	CAD	OMIM:616457
HP:0004360	Abnormality of acid-base homeostasis	182	JAG1	OMIM:118450
HP:0004360	Abnormality of acid-base homeostasis	9049	AIP	OMIM:219090
HP:0004360	Abnormality of acid-base homeostasis	9101	USP8	OMIM:219090
HP:0004360	Abnormality of acid-base homeostasis	1811	SLC26A3	OMIM:214700
HP:0004360	Abnormality of acid-base homeostasis	162417	NAGS	OMIM:237310
HP:0004360	Abnormality of acid-base homeostasis	6559	SLC12A3	OMIM:263800
HP:0004360	Abnormality of acid-base homeostasis	1586	CYP17A1	OMIM:202110
HP:0004360	Abnormality of acid-base homeostasis	435	ASL	ORPHA:23
HP:0004360	Abnormality of acid-base homeostasis	435	ASL	OMIM:207900
HP:0004360	Abnormality of acid-base homeostasis	5009	OTC	ORPHA:664
HP:0004360	Abnormality of acid-base homeostasis	5009	OTC	OMIM:311250
HP:0004360	Abnormality of acid-base homeostasis	445	ASS1	OMIM:215700
HP:0004360	Abnormality of acid-base homeostasis	1373	CPS1	OMIM:237300
HP:0004360	Abnormality of acid-base homeostasis	10166	SLC25A15	ORPHA:415
HP:0004360	Abnormality of acid-base homeostasis	8462	KLF11	ORPHA:552
HP:0004360	Abnormality of acid-base homeostasis	2645	GCK	ORPHA:552
HP:0004360	Abnormality of acid-base homeostasis	26060	APPL1	ORPHA:552
HP:0004360	Abnormality of acid-base homeostasis	640	BLK	ORPHA:552
HP:0004360	Abnormality of acid-base homeostasis	1056	CEL	ORPHA:552
HP:0004360	Abnormality of acid-base homeostasis	4760	NEUROD1	ORPHA:552
HP:0004360	Abnormality of acid-base homeostasis	3651	PDX1	ORPHA:552
HP:0004360	Abnormality of acid-base homeostasis	6833	ABCC8	ORPHA:552
HP:0004360	Abnormality of acid-base homeostasis	6833	ABCC8	ORPHA:99886
HP:0004360	Abnormality of acid-base homeostasis	3630	INS	ORPHA:552
HP:0004360	Abnormality of acid-base homeostasis	3630	INS	OMIM:618858
HP:0004360	Abnormality of acid-base homeostasis	3630	INS	OMIM:613370
HP:0004360	Abnormality of acid-base homeostasis	3643	INSR	OMIM:262190
HP:0004360	Abnormality of acid-base homeostasis	3643	INSR	ORPHA:769
HP:0004360	Abnormality of acid-base homeostasis	63924	CIDEC	OMIM:615238
HP:0004360	Abnormality of acid-base homeostasis	346171	ZFP57	ORPHA:99886
HP:0004360	Abnormality of acid-base homeostasis	57061	HYMAI	ORPHA:99886
HP:0004360	Abnormality of acid-base homeostasis	5325	PLAGL1	ORPHA:99886
HP:0004360	Abnormality of acid-base homeostasis	6557	SLC12A1	OMIM:601678
HP:0004360	Abnormality of acid-base homeostasis	7809	BSND	ORPHA:89938
HP:0004360	Abnormality of acid-base homeostasis	1187	CLCNKA	ORPHA:89938
HP:0004360	Abnormality of acid-base homeostasis	3106	HLA-B	ORPHA:36426
HP:0004360	Abnormality of acid-base homeostasis	10320	IKZF1	ORPHA:36426
HP:0004360	Abnormality of acid-base homeostasis	3758	KCNJ1	OMIM:241200
HP:0004360	Abnormality of acid-base homeostasis	79783	SUGCT	ORPHA:35706
HP:0004360	Abnormality of acid-base homeostasis	26191	PTPN22	OMIM:222100
HP:0004360	Abnormality of acid-base homeostasis	3710	ITPR3	OMIM:222100
HP:0004360	Abnormality of acid-base homeostasis	3569	IL6	OMIM:222100
HP:0004360	Abnormality of acid-base homeostasis	6927	HNF1A	OMIM:222100
HP:0004360	Abnormality of acid-base homeostasis	6566	SLC16A1	OMIM:616095
HP:0004360	Abnormality of acid-base homeostasis	513	ATP5F1D	OMIM:618120
HP:0004360	Abnormality of acid-base homeostasis	3767	KCNJ11	OMIM:618856
HP:0004360	Abnormality of acid-base homeostasis	1629	DBT	OMIM:620699
HP:0004360	Abnormality of acid-base homeostasis	9451	EIF2AK3	ORPHA:1667
HP:0004360	Abnormality of acid-base homeostasis	6928	HNF1B	ORPHA:93111
HP:0004360	Abnormality of acid-base homeostasis	5277	PIGA	ORPHA:447
HP:0004360	Abnormality of acid-base homeostasis	2625	GATA3	OMIM:146255
HP:0004360	Abnormality of acid-base homeostasis	9131	AIFM1	ORPHA:238329
HP:0004360	Abnormality of acid-base homeostasis	9131	AIFM1	OMIM:300816
HP:0004360	Abnormality of acid-base homeostasis	4702	NDUFA8	OMIM:619272
HP:0004360	Abnormality of acid-base homeostasis	79717	PPCS	OMIM:618189
HP:0004360	Abnormality of acid-base homeostasis	4574	MT-TS1	OMIM:220110
HP:0004360	Abnormality of acid-base homeostasis	4574	MT-TS1	ORPHA:550
HP:0004360	Abnormality of acid-base homeostasis	4574	MT-TS1	ORPHA:663
HP:0004360	Abnormality of acid-base homeostasis	4570	MT-TN	OMIM:220110
HP:0004360	Abnormality of acid-base homeostasis	4570	MT-TN	ORPHA:663
HP:0004360	Abnormality of acid-base homeostasis	6834	SURF1	OMIM:220110
HP:0004360	Abnormality of acid-base homeostasis	6834	SURF1	OMIM:616684
HP:0004360	Abnormality of acid-base homeostasis	10059	DNM1L	OMIM:614388
HP:0004360	Abnormality of acid-base homeostasis	10059	DNM1L	ORPHA:330050
HP:0004360	Abnormality of acid-base homeostasis	400916	CHCHD10	OMIM:616209
HP:0004360	Abnormality of acid-base homeostasis	400916	CHCHD10	ORPHA:457050
HP:0004360	Abnormality of acid-base homeostasis	123263	MTFMT	OMIM:614947
HP:0004360	Abnormality of acid-base homeostasis	10667	FARS2	OMIM:614946
HP:0004360	Abnormality of acid-base homeostasis	80222	TARS2	OMIM:615918
HP:0004360	Abnormality of acid-base homeostasis	4535	MT-ND1	ORPHA:255210
HP:0004360	Abnormality of acid-base homeostasis	4535	MT-ND1	ORPHA:550
HP:0004360	Abnormality of acid-base homeostasis	4536	MT-ND2	ORPHA:255210
HP:0004360	Abnormality of acid-base homeostasis	4537	MT-ND3	ORPHA:255210
HP:0004360	Abnormality of acid-base homeostasis	4538	MT-ND4	ORPHA:255210
HP:0004360	Abnormality of acid-base homeostasis	4538	MT-ND4	ORPHA:550
HP:0004360	Abnormality of acid-base homeostasis	4567	MT-TL1	ORPHA:255210
HP:0004360	Abnormality of acid-base homeostasis	4567	MT-TL1	OMIM:545000
HP:0004360	Abnormality of acid-base homeostasis	4567	MT-TL1	ORPHA:550
HP:0004360	Abnormality of acid-base homeostasis	4567	MT-TL1	ORPHA:663
HP:0004360	Abnormality of acid-base homeostasis	4567	MT-TL1	ORPHA:324525
HP:0004360	Abnormality of acid-base homeostasis	4578	MT-TW	ORPHA:255210
HP:0004360	Abnormality of acid-base homeostasis	4578	MT-TW	ORPHA:550
HP:0004360	Abnormality of acid-base homeostasis	4577	MT-TV	ORPHA:255210
HP:0004360	Abnormality of acid-base homeostasis	4508	MT-ATP6	ORPHA:255210
HP:0004360	Abnormality of acid-base homeostasis	4508	MT-ATP6	ORPHA:320360
HP:0004360	Abnormality of acid-base homeostasis	4540	MT-ND5	ORPHA:255210
HP:0004360	Abnormality of acid-base homeostasis	4540	MT-ND5	ORPHA:550
HP:0004360	Abnormality of acid-base homeostasis	4541	MT-ND6	ORPHA:255210
HP:0004360	Abnormality of acid-base homeostasis	4541	MT-ND6	ORPHA:550
HP:0004360	Abnormality of acid-base homeostasis	4566	MT-TK	ORPHA:255210
HP:0004360	Abnormality of acid-base homeostasis	4566	MT-TK	OMIM:545000
HP:0004360	Abnormality of acid-base homeostasis	4566	MT-TK	ORPHA:1349
HP:0004360	Abnormality of acid-base homeostasis	51218	GLRX5	ORPHA:401866
HP:0004360	Abnormality of acid-base homeostasis	51218	GLRX5	OMIM:616859
HP:0004360	Abnormality of acid-base homeostasis	65993	MRPS34	OMIM:617664
HP:0004360	Abnormality of acid-base homeostasis	5917	RARS1	ORPHA:438114
HP:0004360	Abnormality of acid-base homeostasis	387787	LIPT2	OMIM:617668
HP:0004360	Abnormality of acid-base homeostasis	1841	DTYMK	OMIM:619847
HP:0004360	Abnormality of acid-base homeostasis	10730	YME1L1	OMIM:617302
HP:0004360	Abnormality of acid-base homeostasis	271	AMPD2	OMIM:615809
HP:0004360	Abnormality of acid-base homeostasis	1353	COX11	OMIM:620275
HP:0004360	Abnormality of acid-base homeostasis	87178	PNPT1	ORPHA:319514
HP:0004360	Abnormality of acid-base homeostasis	87178	PNPT1	OMIM:614932
HP:0004360	Abnormality of acid-base homeostasis	4718	NDUFC2	OMIM:619170
HP:0004360	Abnormality of acid-base homeostasis	55687	TRMU	OMIM:613070
HP:0004360	Abnormality of acid-base homeostasis	1351	COX8A	OMIM:619059
HP:0004360	Abnormality of acid-base homeostasis	116228	COX20	OMIM:619054
HP:0004360	Abnormality of acid-base homeostasis	1020	CDK5	OMIM:616342
HP:0004360	Abnormality of acid-base homeostasis	55157	DARS2	ORPHA:137898
HP:0004360	Abnormality of acid-base homeostasis	1339	COX6A2	OMIM:619062
HP:0004360	Abnormality of acid-base homeostasis	100303755	PET117	OMIM:619063
HP:0004360	Abnormality of acid-base homeostasis	9377	COX5A	OMIM:619064
HP:0004360	Abnormality of acid-base homeostasis	1327	COX4I1	OMIM:619060
HP:0004360	Abnormality of acid-base homeostasis	54968	TMEM70	OMIM:614052
HP:0004360	Abnormality of acid-base homeostasis	4565	MT-TI	OMIM:545000
HP:0004360	Abnormality of acid-base homeostasis	4571	MT-TP	OMIM:545000
HP:0004360	Abnormality of acid-base homeostasis	4558	MT-TF	OMIM:545000
HP:0004360	Abnormality of acid-base homeostasis	4558	MT-TF	ORPHA:550
HP:0004360	Abnormality of acid-base homeostasis	5442	POLRMT	OMIM:619743
HP:0004360	Abnormality of acid-base homeostasis	39	ACAT2	OMIM:614055
HP:0004360	Abnormality of acid-base homeostasis	64121	RRAGC	OMIM:620609
HP:0004360	Abnormality of acid-base homeostasis	246243	RNASEH1	OMIM:616479
HP:0004360	Abnormality of acid-base homeostasis	10352	WARS2	ORPHA:572798
HP:0004360	Abnormality of acid-base homeostasis	10352	WARS2	OMIM:617710
HP:0004360	Abnormality of acid-base homeostasis	51021	MRPS16	OMIM:610498
HP:0004360	Abnormality of acid-base homeostasis	79731	NARS2	OMIM:616239
HP:0004360	Abnormality of acid-base homeostasis	284439	SLC25A42	OMIM:618416
HP:0004360	Abnormality of acid-base homeostasis	84947	SERAC1	OMIM:614739
HP:0004360	Abnormality of acid-base homeostasis	28976	ACAD9	ORPHA:99901
HP:0004360	Abnormality of acid-base homeostasis	3735	KARS1	OMIM:619196
HP:0004360	Abnormality of acid-base homeostasis	3735	KARS1	OMIM:619147
HP:0004360	Abnormality of acid-base homeostasis	5091	PC	OMIM:266150
HP:0004360	Abnormality of acid-base homeostasis	55768	NGLY1	OMIM:615273
HP:0004360	Abnormality of acid-base homeostasis	65080	MRPL44	OMIM:615395
HP:0004360	Abnormality of acid-base homeostasis	27089	UQCRQ	OMIM:615159
HP:0004360	Abnormality of acid-base homeostasis	51660	MPC1	OMIM:614741
HP:0004360	Abnormality of acid-base homeostasis	1593	CYP27A1	ORPHA:909
HP:0004360	Abnormality of acid-base homeostasis	92609	TIMM50	OMIM:617698
HP:0004360	Abnormality of acid-base homeostasis	92609	TIMM50	ORPHA:505216
HP:0004360	Abnormality of acid-base homeostasis	90624	LYRM7	OMIM:615838
HP:0004360	Abnormality of acid-base homeostasis	5428	POLG	OMIM:203700
HP:0004360	Abnormality of acid-base homeostasis	5428	POLG	OMIM:607459
HP:0004360	Abnormality of acid-base homeostasis	5428	POLG	ORPHA:254892
HP:0004360	Abnormality of acid-base homeostasis	5428	POLG	ORPHA:254881
HP:0004360	Abnormality of acid-base homeostasis	5428	POLG	OMIM:157640
HP:0004360	Abnormality of acid-base homeostasis	5428	POLG	ORPHA:70595
HP:0004360	Abnormality of acid-base homeostasis	55210	ATAD3A	ORPHA:496790
HP:0004360	Abnormality of acid-base homeostasis	55210	ATAD3A	OMIM:618810
HP:0004360	Abnormality of acid-base homeostasis	55210	ATAD3A	OMIM:617183
HP:0004360	Abnormality of acid-base homeostasis	25828	TXN2	ORPHA:478029
HP:0004360	Abnormality of acid-base homeostasis	25828	TXN2	OMIM:616811
HP:0004360	Abnormality of acid-base homeostasis	4285	MIPEP	OMIM:617228
HP:0004360	Abnormality of acid-base homeostasis	56652	TWNK	OMIM:616138
HP:0004360	Abnormality of acid-base homeostasis	56652	TWNK	OMIM:607459
HP:0004360	Abnormality of acid-base homeostasis	56652	TWNK	ORPHA:254892
HP:0004360	Abnormality of acid-base homeostasis	56652	TWNK	OMIM:609286
HP:0004360	Abnormality of acid-base homeostasis	56652	TWNK	ORPHA:70595
HP:0004360	Abnormality of acid-base homeostasis	10531	PITRM1	OMIM:619405
HP:0004360	Abnormality of acid-base homeostasis	270	AMPD1	ORPHA:45
HP:0004360	Abnormality of acid-base homeostasis	272	AMPD3	ORPHA:45
HP:0004360	Abnormality of acid-base homeostasis	55739	NAXD	OMIM:618321
HP:0004360	Abnormality of acid-base homeostasis	125988	MICOS13	OMIM:618329
HP:0004360	Abnormality of acid-base homeostasis	8565	YARS1	OMIM:619418
HP:0004360	Abnormality of acid-base homeostasis	54148	MRPL39	OMIM:620646
HP:0004360	Abnormality of acid-base homeostasis	1384	CRAT	OMIM:617917
HP:0004360	Abnormality of acid-base homeostasis	91574	MTRFR	OMIM:613559
HP:0004360	Abnormality of acid-base homeostasis	3954	LETM1	OMIM:620089
HP:0004360	Abnormality of acid-base homeostasis	23479	ISCU	OMIM:255125
HP:0004360	Abnormality of acid-base homeostasis	81570	CLPB	OMIM:616271
HP:0004360	Abnormality of acid-base homeostasis	81570	CLPB	ORPHA:445038
HP:0004360	Abnormality of acid-base homeostasis	1892	ECHS1	OMIM:616277
HP:0004360	Abnormality of acid-base homeostasis	51117	COQ4	OMIM:616276
HP:0004360	Abnormality of acid-base homeostasis	51067	YARS2	OMIM:613561
HP:0004360	Abnormality of acid-base homeostasis	57017	COQ9	OMIM:614654
HP:0004360	Abnormality of acid-base homeostasis	27429	HTRA2	OMIM:617248
HP:0004360	Abnormality of acid-base homeostasis	57107	PDSS2	OMIM:614652
HP:0004360	Abnormality of acid-base homeostasis	3329	HSPD1	OMIM:612233
HP:0004360	Abnormality of acid-base homeostasis	291	SLC25A4	ORPHA:254892
HP:0004360	Abnormality of acid-base homeostasis	291	SLC25A4	OMIM:615418
HP:0004360	Abnormality of acid-base homeostasis	50484	RRM2B	ORPHA:254892
HP:0004360	Abnormality of acid-base homeostasis	4572	MT-TQ	ORPHA:550
HP:0004360	Abnormality of acid-base homeostasis	4512	MT-CO1	ORPHA:550
HP:0004360	Abnormality of acid-base homeostasis	4513	MT-CO2	ORPHA:550
HP:0004360	Abnormality of acid-base homeostasis	4514	MT-CO3	ORPHA:550
HP:0004360	Abnormality of acid-base homeostasis	4575	MT-TS2	ORPHA:550
HP:0004360	Abnormality of acid-base homeostasis	4564	MT-TH	ORPHA:550
HP:0004360	Abnormality of acid-base homeostasis	4728	NDUFS8	OMIM:618222
HP:0004360	Abnormality of acid-base homeostasis	1317	SLC31A1	OMIM:620306
HP:0004360	Abnormality of acid-base homeostasis	4568	MT-TL2	ORPHA:663
HP:0004360	Abnormality of acid-base homeostasis	6647	SOD1	OMIM:618598
HP:0004360	Abnormality of acid-base homeostasis	79587	CARS2	ORPHA:477774
HP:0004360	Abnormality of acid-base homeostasis	79587	CARS2	OMIM:616672
HP:0004360	Abnormality of acid-base homeostasis	126328	NDUFA11	OMIM:618236
HP:0004360	Abnormality of acid-base homeostasis	8867	SYNJ1	OMIM:617389
HP:0004360	Abnormality of acid-base homeostasis	51601	LIPT1	OMIM:616299
HP:0004360	Abnormality of acid-base homeostasis	4722	NDUFS3	OMIM:618230
HP:0004360	Abnormality of acid-base homeostasis	8492	PRSS12	OMIM:249500
HP:0004360	Abnormality of acid-base homeostasis	137682	NDUFAF6	OMIM:618239
HP:0004360	Abnormality of acid-base homeostasis	11093	ADAMTS13	OMIM:274150
HP:0004360	Abnormality of acid-base homeostasis	3939	LDHA	OMIM:612933
HP:0004360	Abnormality of acid-base homeostasis	4952	OCRL	ORPHA:534
HP:0004360	Abnormality of acid-base homeostasis	4204	MECP2	ORPHA:778
HP:0004360	Abnormality of acid-base homeostasis	4694	NDUFA1	OMIM:301020
HP:0004360	Abnormality of acid-base homeostasis	55967	NDUFA12	OMIM:618244
HP:0004360	Abnormality of acid-base homeostasis	84340	GFM2	ORPHA:565624
HP:0004360	Abnormality of acid-base homeostasis	84340	GFM2	OMIM:618397
HP:0004360	Abnormality of acid-base homeostasis	4715	NDUFB9	OMIM:618245
HP:0004360	Abnormality of acid-base homeostasis	51116	MRPS2	OMIM:617950
HP:0004360	Abnormality of acid-base homeostasis	9512	PMPCB	OMIM:617954
HP:0004360	Abnormality of acid-base homeostasis	51079	NDUFA13	OMIM:618249
HP:0004360	Abnormality of acid-base homeostasis	708	C1QBP	OMIM:617713
HP:0004360	Abnormality of acid-base homeostasis	9361	LONP1	ORPHA:79243
HP:0004360	Abnormality of acid-base homeostasis	55750	AGK	OMIM:212350
HP:0004360	Abnormality of acid-base homeostasis	54704	PDP1	ORPHA:79246
HP:0004360	Abnormality of acid-base homeostasis	91647	ATPAF2	OMIM:604273
HP:0004360	Abnormality of acid-base homeostasis	8604	SLC25A12	OMIM:612949
HP:0004360	Abnormality of acid-base homeostasis	9056	SLC7A7	OMIM:222700
HP:0004360	Abnormality of acid-base homeostasis	80324	PUS1	OMIM:600462
HP:0004360	Abnormality of acid-base homeostasis	112812	FDX2	OMIM:251900
HP:0004360	Abnormality of acid-base homeostasis	6390	SDHB	OMIM:619224
HP:0004360	Abnormality of acid-base homeostasis	63931	MRPS14	OMIM:618378
HP:0004360	Abnormality of acid-base homeostasis	84705	GTPBP3	OMIM:616198
HP:0004360	Abnormality of acid-base homeostasis	6773	STAT2	OMIM:616636
HP:0004360	Abnormality of acid-base homeostasis	27010	TPK1	OMIM:614458
HP:0004360	Abnormality of acid-base homeostasis	79736	TEFM	OMIM:620451
HP:0004360	Abnormality of acid-base homeostasis	2998	GYS2	OMIM:240600
HP:0004360	Abnormality of acid-base homeostasis	11019	LIAS	OMIM:614462
HP:0004360	Abnormality of acid-base homeostasis	81689	ISCA1	OMIM:617613
HP:0004360	Abnormality of acid-base homeostasis	31	ACACA	OMIM:613933
HP:0004360	Abnormality of acid-base homeostasis	128240	NAXE	OMIM:617186
HP:0004360	Abnormality of acid-base homeostasis	6182	MRPL12	OMIM:618951
HP:0004360	Abnormality of acid-base homeostasis	7084	TK2	OMIM:617069
HP:0004360	Abnormality of acid-base homeostasis	4976	OPA1	OMIM:616896
HP:0004360	Abnormality of acid-base homeostasis	57570	TRMT5	OMIM:616539
HP:0004360	Abnormality of acid-base homeostasis	5261	PHKG2	OMIM:613027
HP:0004360	Abnormality of acid-base homeostasis	57038	RARS2	OMIM:611523
HP:0004360	Abnormality of acid-base homeostasis	498	ATP5F1A	OMIM:620358
HP:0004360	Abnormality of acid-base homeostasis	1716	DGUOK	OMIM:617070
HP:0004360	Abnormality of acid-base homeostasis	51081	MRPS7	OMIM:617872
HP:0004360	Abnormality of acid-base homeostasis	63899	NSUN3	OMIM:619012
HP:0004360	Abnormality of acid-base homeostasis	119559	SFXN4	OMIM:615578
HP:0004360	Abnormality of acid-base homeostasis	131118	DNAJC19	ORPHA:66634
HP:0004360	Abnormality of acid-base homeostasis	2806	GOT2	OMIM:618721
HP:0004360	Abnormality of acid-base homeostasis	55005	RMND1	OMIM:614922
HP:0004360	Abnormality of acid-base homeostasis	124454	EARS2	OMIM:614924
HP:0004360	Abnormality of acid-base homeostasis	84842	HPDL	OMIM:619026
HP:0004360	Abnormality of acid-base homeostasis	1468	SLC25A10	OMIM:618972
HP:0004360	Abnormality of acid-base homeostasis	29928	TIMM22	OMIM:618851
HP:0004360	Abnormality of acid-base homeostasis	115286	SLC25A26	OMIM:616794
HP:0004360	Abnormality of acid-base homeostasis	8803	SUCLA2	OMIM:612073
HP:0004360	Abnormality of acid-base homeostasis	22868	FASTKD2	OMIM:618855
HP:0004360	Abnormality of acid-base homeostasis	54938	SARS2	OMIM:613845
HP:0004360	Abnormality of acid-base homeostasis	50640	PNPLA8	OMIM:251950
HP:0004360	Abnormality of acid-base homeostasis	4552	MTRR	OMIM:236270
HP:0004360	Abnormality of acid-base homeostasis	55788	LMBRD1	OMIM:277380
HP:0004360	Abnormality of acid-base homeostasis	3054	HCFC1	OMIM:309541
HP:0004360	Abnormality of acid-base homeostasis	51293	CD320	OMIM:613646
HP:0004360	Abnormality of acid-base homeostasis	5826	ABCD4	OMIM:614857
HP:0004360	Abnormality of acid-base homeostasis	27249	MMADHC	OMIM:277410
HP:0004360	Abnormality of acid-base homeostasis	4594	MMUT	OMIM:251000
HP:0004360	Abnormality of acid-base homeostasis	25915	NDUFAF3	ORPHA:2609
HP:0004360	Abnormality of acid-base homeostasis	25915	NDUFAF3	OMIM:618240
HP:0004360	Abnormality of acid-base homeostasis	91942	NDUFAF2	ORPHA:2609
HP:0004360	Abnormality of acid-base homeostasis	51300	TIMMDC1	ORPHA:2609
HP:0004360	Abnormality of acid-base homeostasis	55572	FOXRED1	ORPHA:2609
HP:0004360	Abnormality of acid-base homeostasis	55572	FOXRED1	OMIM:618241
HP:0004360	Abnormality of acid-base homeostasis	4729	NDUFV2	ORPHA:2609
HP:0004360	Abnormality of acid-base homeostasis	4729	NDUFV2	OMIM:618229
HP:0004360	Abnormality of acid-base homeostasis	4726	NDUFS6	ORPHA:2609
HP:0004360	Abnormality of acid-base homeostasis	4726	NDUFS6	OMIM:618232
HP:0004360	Abnormality of acid-base homeostasis	79133	NDUFAF5	ORPHA:2609
HP:0004360	Abnormality of acid-base homeostasis	79133	NDUFAF5	OMIM:618238
HP:0004360	Abnormality of acid-base homeostasis	4709	NDUFB3	ORPHA:2609
HP:0004360	Abnormality of acid-base homeostasis	4709	NDUFB3	OMIM:618246
HP:0004360	Abnormality of acid-base homeostasis	80224	NUBPL	ORPHA:2609
HP:0004360	Abnormality of acid-base homeostasis	1355	COX15	OMIM:615119
HP:0004360	Abnormality of acid-base homeostasis	84334	COA8	ORPHA:436271
HP:0004360	Abnormality of acid-base homeostasis	57176	VARS2	OMIM:615917
HP:0004360	Abnormality of acid-base homeostasis	4141	MARS1	OMIM:615486
HP:0004360	Abnormality of acid-base homeostasis	6392	SDHD	OMIM:619167
HP:0004360	Abnormality of acid-base homeostasis	23474	ETHE1	ORPHA:51188
HP:0004360	Abnormality of acid-base homeostasis	23474	ETHE1	OMIM:602473
HP:0004360	Abnormality of acid-base homeostasis	1890	TYMP	ORPHA:298
HP:0004360	Abnormality of acid-base homeostasis	1890	TYMP	OMIM:603041
HP:0004360	Abnormality of acid-base homeostasis	3980	LIG3	ORPHA:298
HP:0004360	Abnormality of acid-base homeostasis	4519	MT-CYB	OMIM:540000
HP:0004360	Abnormality of acid-base homeostasis	4519	MT-CYB	ORPHA:137675
HP:0004360	Abnormality of acid-base homeostasis	4511	MT-TC	OMIM:540000
HP:0004360	Abnormality of acid-base homeostasis	4509	MT-ATP8	ORPHA:254913
HP:0004360	Abnormality of acid-base homeostasis	514	ATP5F1E	ORPHA:254913
HP:0004360	Abnormality of acid-base homeostasis	514	ATP5F1E	OMIM:614053
HP:0004360	Abnormality of acid-base homeostasis	84833	ATP5MK	ORPHA:254913
HP:0004360	Abnormality of acid-base homeostasis	5105	PCK1	OMIM:261680
HP:0004360	Abnormality of acid-base homeostasis	2538	G6PC1	OMIM:232200
HP:0004360	Abnormality of acid-base homeostasis	501	ALDH7A1	ORPHA:3006
HP:0004360	Abnormality of acid-base homeostasis	23203	PMPCA	ORPHA:1170
HP:0004360	Abnormality of acid-base homeostasis	7386	UQCRFS1	OMIM:618775
HP:0004360	Abnormality of acid-base homeostasis	4697	NDUFA4	OMIM:619065
HP:0004360	Abnormality of acid-base homeostasis	388962	BOLA3	OMIM:614299
HP:0004360	Abnormality of acid-base homeostasis	593	BCKDHA	OMIM:248600
HP:0004360	Abnormality of acid-base homeostasis	4576	MT-TT	OMIM:551000
HP:0004360	Abnormality of acid-base homeostasis	1737	DLAT	OMIM:245348
HP:0004360	Abnormality of acid-base homeostasis	10165	SLC25A13	ORPHA:247598
HP:0004360	Abnormality of acid-base homeostasis	5256	PHKA2	ORPHA:264580
HP:0004360	Abnormality of acid-base homeostasis	5256	PHKA2	OMIM:306000
HP:0004360	Abnormality of acid-base homeostasis	2671	GFER	ORPHA:330054
HP:0004360	Abnormality of acid-base homeostasis	26007	TKFC	ORPHA:1369
HP:0004360	Abnormality of acid-base homeostasis	26007	TKFC	OMIM:618805
HP:0004360	Abnormality of acid-base homeostasis	27235	COQ2	OMIM:607426
HP:0004360	Abnormality of acid-base homeostasis	11274	USP18	OMIM:617397
HP:0004360	Abnormality of acid-base homeostasis	5257	PHKB	ORPHA:79240
HP:0004360	Abnormality of acid-base homeostasis	58472	SQOR	OMIM:619221
HP:0004360	Abnormality of acid-base homeostasis	51095	TRNT1	OMIM:616084
HP:0004360	Abnormality of acid-base homeostasis	51520	LARS1	OMIM:615438
HP:0004360	Abnormality of acid-base homeostasis	5162	PDHB	ORPHA:255138
HP:0004360	Abnormality of acid-base homeostasis	5162	PDHB	OMIM:614111
HP:0004360	Abnormality of acid-base homeostasis	60528	ELAC2	OMIM:615440
HP:0004360	Abnormality of acid-base homeostasis	55278	QRSL1	OMIM:618835
HP:0004360	Abnormality of acid-base homeostasis	5188	GATB	OMIM:618838
HP:0004360	Abnormality of acid-base homeostasis	3033	HADH	ORPHA:71212
HP:0004360	Abnormality of acid-base homeostasis	3030	HADHA	OMIM:609015
HP:0004360	Abnormality of acid-base homeostasis	283459	GATC	OMIM:618839
HP:0004360	Abnormality of acid-base homeostasis	5495	PPM1B	ORPHA:163693
HP:0004360	Abnormality of acid-base homeostasis	6519	SLC3A1	ORPHA:163693
HP:0004360	Abnormality of acid-base homeostasis	9581	PREPL	ORPHA:163693
HP:0004360	Abnormality of acid-base homeostasis	79823	CAMKMT	ORPHA:163693
HP:0004360	Abnormality of acid-base homeostasis	4713	NDUFB7	OMIM:620135
HP:0004360	Abnormality of acid-base homeostasis	51241	COX16	OMIM:619355
HP:0004360	Abnormality of acid-base homeostasis	4556	MT-TE	ORPHA:254864
HP:0004360	Abnormality of acid-base homeostasis	56922	MCCC1	OMIM:210200
HP:0004360	Abnormality of acid-base homeostasis	6901	TAFAZZIN	OMIM:302060
HP:0004360	Abnormality of acid-base homeostasis	65266	WNK4	OMIM:614491
HP:0004360	Abnormality of acid-base homeostasis	26249	KLHL3	OMIM:614495
HP:0004360	Abnormality of acid-base homeostasis	50674	NEUROG3	OMIM:610370
HP:0004360	Abnormality of acid-base homeostasis	50674	NEUROG3	ORPHA:83620
HP:0004360	Abnormality of acid-base homeostasis	6569	SLC34A1	ORPHA:3337
HP:0004360	Abnormality of acid-base homeostasis	5053	PAH	OMIM:261600
HP:0004360	Abnormality of acid-base homeostasis	3675	ITGA3	OMIM:614748
HP:0004360	Abnormality of acid-base homeostasis	5019	OXCT1	OMIM:245050
HP:0004360	Abnormality of acid-base homeostasis	6473	SHOX	ORPHA:314795
HP:0004360	Abnormality of acid-base homeostasis	27130	INVS	OMIM:602088
HP:0004360	Abnormality of acid-base homeostasis	686	BTD	OMIM:253260
HP:0004360	Abnormality of acid-base homeostasis	686	BTD	ORPHA:79241
HP:0004360	Abnormality of acid-base homeostasis	5836	PYGL	ORPHA:369
HP:0004360	Abnormality of acid-base homeostasis	78987	CRELD1	OMIM:620771
HP:0004360	Abnormality of acid-base homeostasis	5078	PAX4	OMIM:612225
HP:0004360	Abnormality of acid-base homeostasis	8802	SUCLG1	OMIM:245400
HP:0004360	Abnormality of acid-base homeostasis	90161	HS6ST2	OMIM:301025
HP:0004360	Abnormality of acid-base homeostasis	55863	TMEM126B	OMIM:618250
HP:0004360	Abnormality of acid-base homeostasis	9997	SCO2	OMIM:604377
HP:0004360	Abnormality of acid-base homeostasis	4716	NDUFB10	OMIM:619003
HP:0004360	Abnormality of acid-base homeostasis	4704	NDUFA9	OMIM:618247
HP:0004360	Abnormality of acid-base homeostasis	1537	CYC1	OMIM:615453
HP:0004360	Abnormality of acid-base homeostasis	790955	UQCC3	OMIM:616111
HP:0004360	Abnormality of acid-base homeostasis	200205	IBA57	OMIM:615330
HP:0004360	Abnormality of acid-base homeostasis	11222	MRPL3	OMIM:614582
HP:0004360	Abnormality of acid-base homeostasis	4705	NDUFA10	OMIM:618243
HP:0004360	Abnormality of acid-base homeostasis	9692	PRORP	OMIM:619737
HP:0004360	Abnormality of acid-base homeostasis	54931	TRMT10C	OMIM:616974
HP:0004360	Abnormality of acid-base homeostasis	4724	NDUFS4	OMIM:252010
HP:0004360	Abnormality of acid-base homeostasis	23590	PDSS1	OMIM:614651
HP:0004360	Abnormality of acid-base homeostasis	4358	MPV17	OMIM:256810
HP:0004360	Abnormality of acid-base homeostasis	56997	COQ8A	OMIM:612016
HP:0004360	Abnormality of acid-base homeostasis	85476	GFM1	OMIM:609060
HP:0004360	Abnormality of acid-base homeostasis	4191	MDH2	OMIM:617339
HP:0004360	Abnormality of acid-base homeostasis	10102	TSFM	OMIM:610505
HP:0004360	Abnormality of acid-base homeostasis	617	BCS1L	OMIM:124000
HP:0004360	Abnormality of acid-base homeostasis	6389	SDHA	OMIM:252011
HP:0004360	Abnormality of acid-base homeostasis	3418	IDH2	OMIM:613657
HP:0004360	Abnormality of acid-base homeostasis	79944	L2HGDH	OMIM:236792
HP:0004360	Abnormality of acid-base homeostasis	3766	KCNJ10	ORPHA:199343
HP:0004360	Abnormality of acid-base homeostasis	776	CACNA1D	ORPHA:369929
HP:0004360	Abnormality of acid-base homeostasis	776	CACNA1D	OMIM:615474
HP:0004360	Abnormality of acid-base homeostasis	2908	NR3C1	OMIM:615962
HP:0004360	Abnormality of acid-base homeostasis	2908	NR3C1	ORPHA:786
HP:0004360	Abnormality of acid-base homeostasis	3291	HSD11B2	OMIM:218030
HP:0004360	Abnormality of acid-base homeostasis	1188	CLCNKB	ORPHA:358
HP:0004360	Abnormality of acid-base homeostasis	1181	CLCN2	ORPHA:404
HP:0004359	Abnormal circulating fatty-acid concentration	1497	CTNS	OMIM:219800
HP:0004359	Abnormal circulating fatty-acid concentration	1738	DLD	ORPHA:2394
HP:0004359	Abnormal circulating fatty-acid concentration	3155	HMGCL	OMIM:246450
HP:0004359	Abnormal circulating fatty-acid concentration	4556	MT-TE	ORPHA:254864
HP:0004359	Abnormal circulating fatty-acid concentration	55687	TRMU	ORPHA:254864
HP:0004359	Abnormal circulating fatty-acid concentration	4695	NDUFA2	OMIM:618235
HP:0004359	Abnormal circulating fatty-acid concentration	34	ACADM	OMIM:201450
HP:0004359	Abnormal circulating fatty-acid concentration	1294	COL7A1	ORPHA:89842
HP:0004359	Abnormal circulating fatty-acid concentration	27034	ACAD8	OMIM:611283
HP:0004359	Abnormal circulating fatty-acid concentration	27034	ACAD8	ORPHA:79159
HP:0004359	Abnormal circulating fatty-acid concentration	28976	ACAD9	ORPHA:99901
HP:0004359	Abnormal circulating fatty-acid concentration	64087	MCCC2	OMIM:210210
HP:0004359	Abnormal circulating fatty-acid concentration	788	SLC25A20	ORPHA:159
HP:0004359	Abnormal circulating fatty-acid concentration	1962	EHHADH	ORPHA:3337
HP:0004359	Abnormal circulating fatty-acid concentration	2628	GATM	ORPHA:3337
HP:0004359	Abnormal circulating fatty-acid concentration	137682	NDUFAF6	ORPHA:3337
HP:0004359	Abnormal circulating fatty-acid concentration	6569	SLC34A1	ORPHA:3337
HP:0004359	Abnormal circulating fatty-acid concentration	6584	SLC22A5	OMIM:212140
HP:0004359	Abnormal circulating fatty-acid concentration	5830	PEX5	OMIM:202370
HP:0004359	Abnormal circulating fatty-acid concentration	5830	PEX5	OMIM:214110
HP:0004359	Abnormal circulating fatty-acid concentration	1376	CPT2	OMIM:608836
HP:0004359	Abnormal circulating fatty-acid concentration	1376	CPT2	ORPHA:228302
HP:0004359	Abnormal circulating fatty-acid concentration	5824	PEX19	OMIM:614886
HP:0004359	Abnormal circulating fatty-acid concentration	5189	PEX1	OMIM:214100
HP:0004359	Abnormal circulating fatty-acid concentration	6557	SLC12A1	OMIM:601678
HP:0004359	Abnormal circulating fatty-acid concentration	3758	KCNJ1	OMIM:241200
HP:0004359	Abnormal circulating fatty-acid concentration	3172	HNF4A	ORPHA:263455
HP:0004359	Abnormal circulating fatty-acid concentration	215	ABCD1	ORPHA:139399
HP:0004359	Abnormal circulating fatty-acid concentration	215	ABCD1	ORPHA:139396
HP:0004359	Abnormal circulating fatty-acid concentration	6341	SCO1	OMIM:619048
HP:0004359	Abnormal circulating fatty-acid concentration	8504	PEX3	ORPHA:772
HP:0004359	Abnormal circulating fatty-acid concentration	9409	PEX16	ORPHA:772
HP:0004359	Abnormal circulating fatty-acid concentration	9409	PEX16	OMIM:614877
HP:0004359	Abnormal circulating fatty-acid concentration	8799	PEX11B	ORPHA:772
HP:0004359	Abnormal circulating fatty-acid concentration	5194	PEX13	ORPHA:772
HP:0004359	Abnormal circulating fatty-acid concentration	5191	PEX7	OMIM:614879
HP:0004359	Abnormal circulating fatty-acid concentration	5191	PEX7	OMIM:266500
HP:0004359	Abnormal circulating fatty-acid concentration	5191	PEX7	OMIM:215100
HP:0004359	Abnormal circulating fatty-acid concentration	5264	PHYH	OMIM:266500
HP:0004359	Abnormal circulating fatty-acid concentration	5192	PEX10	ORPHA:247815
HP:0004359	Abnormal circulating fatty-acid concentration	133686	NADK2	ORPHA:431361
HP:0004359	Abnormal circulating fatty-acid concentration	4312	MMP1	ORPHA:79408
HP:0004359	Abnormal circulating fatty-acid concentration	283209	PGM2L1	OMIM:620191
HP:0004359	Abnormal circulating fatty-acid concentration	3033	HADH	ORPHA:71212
HP:0004359	Abnormal circulating fatty-acid concentration	84033	OBSCN	OMIM:620235
HP:0004359	Abnormal circulating fatty-acid concentration	84896	ATAD1	OMIM:618011
HP:0004359	Abnormal circulating fatty-acid concentration	5321	PLA2G4A	OMIM:618372
HP:0004359	Abnormal circulating fatty-acid concentration	4056	LTC4S	OMIM:614037
HP:0004359	Abnormal circulating fatty-acid concentration	37	ACADVL	ORPHA:26793
HP:0004359	Abnormal circulating fatty-acid concentration	3158	HMGCS2	OMIM:605911
HP:0004359	Abnormal circulating fatty-acid concentration	208	AKT2	ORPHA:293964
HP:0004359	Abnormal circulating fatty-acid concentration	22845	DOLK	OMIM:610768
HP:0004359	Abnormal circulating fatty-acid concentration	4000	LMNA	OMIM:151660
HP:0004359	Abnormal circulating fatty-acid concentration	132158	GLYCTK	ORPHA:941
HP:0004359	Abnormal circulating fatty-acid concentration	25974	MMACHC	ORPHA:79282
HP:0004359	Abnormal circulating fatty-acid concentration	84693	MCEE	OMIM:251120
HP:0004359	Abnormal circulating fatty-acid concentration	2639	GCDH	OMIM:231670
HP:0004359	Abnormal circulating fatty-acid concentration	55788	LMBRD1	OMIM:277380
HP:0004359	Abnormal circulating fatty-acid concentration	5826	ABCD4	OMIM:614857
HP:0004359	Abnormal circulating fatty-acid concentration	326625	MMAB	OMIM:251110
HP:0004359	Abnormal circulating fatty-acid concentration	23474	ETHE1	OMIM:602473
HP:0004359	Abnormal circulating fatty-acid concentration	3712	IVD	ORPHA:33
HP:0004359	Abnormal circulating fatty-acid concentration	51241	COX16	OMIM:619355
HP:0004359	Abnormal circulating fatty-acid concentration	5190	PEX6	OMIM:614862
HP:0004359	Abnormal circulating fatty-acid concentration	10134	BCAP31	ORPHA:369942
HP:0004359	Abnormal circulating fatty-acid concentration	5828	PEX2	OMIM:614866
HP:0004359	Abnormal circulating fatty-acid concentration	5195	PEX14	OMIM:614887
HP:0004359	Abnormal circulating fatty-acid concentration	3295	HSD17B4	OMIM:261515
HP:0004359	Abnormal circulating fatty-acid concentration	5193	PEX12	OMIM:614859
HP:0004359	Abnormal circulating fatty-acid concentration	23600	AMACR	OMIM:614307
HP:0004359	Abnormal circulating fatty-acid concentration	85021	REPS1	OMIM:617916
HP:0004359	Abnormal circulating fatty-acid concentration	1174	AP1S1	OMIM:609313
HP:0004359	Abnormal circulating fatty-acid concentration	55670	PEX26	OMIM:614872
HP:0004359	Abnormal circulating fatty-acid concentration	10059	DNM1L	OMIM:614388
HP:0004359	Abnormal circulating fatty-acid concentration	6342	SCP2	OMIM:613724
HP:0004359	Abnormal circulating fatty-acid concentration	7351	UCP2	ORPHA:276556
HP:0004359	Abnormal circulating fatty-acid concentration	6927	HNF1A	ORPHA:324575
HP:0004359	Abnormal circulating fatty-acid concentration	6833	ABCC8	ORPHA:276575
HP:0004359	Abnormal circulating fatty-acid concentration	3767	KCNJ11	ORPHA:79644
HP:0004359	Abnormal circulating fatty-acid concentration	35	ACADS	ORPHA:26792
HP:0004359	Abnormal circulating fatty-acid concentration	55065	SLC52A1	OMIM:615026
HP:0004359	Abnormal circulating fatty-acid concentration	128989	TANGO2	OMIM:616878
HP:0004359	Abnormal circulating fatty-acid concentration	128989	TANGO2	ORPHA:480864
HP:0004359	Abnormal circulating fatty-acid concentration	90624	LYRM7	OMIM:615838
HP:0004359	Abnormal circulating fatty-acid concentration	3030	HADHA	OMIM:609015
HP:0004379	Abnormality of alkaline phosphatase level	171023	ASXL1	ORPHA:98850
HP:0004379	Abnormality of alkaline phosphatase level	54790	TET2	ORPHA:98850
HP:0004379	Abnormality of alkaline phosphatase level	867	CBL	ORPHA:98850
HP:0004379	Abnormality of alkaline phosphatase level	861	RUNX1	ORPHA:98850
HP:0004379	Abnormality of alkaline phosphatase level	6427	SRSF2	ORPHA:98850
HP:0004379	Abnormality of alkaline phosphatase level	9488	PIGB	OMIM:618580
HP:0004379	Abnormality of alkaline phosphatase level	3376	IARS1	OMIM:617093
HP:0004379	Abnormality of alkaline phosphatase level	79705	LRRK1	OMIM:615198
HP:0004379	Abnormality of alkaline phosphatase level	55503	TRPV6	OMIM:618188
HP:0004379	Abnormality of alkaline phosphatase level	10312	TCIRG1	OMIM:259700
HP:0004379	Abnormality of alkaline phosphatase level	10312	TCIRG1	ORPHA:210110
HP:0004379	Abnormality of alkaline phosphatase level	5279	PIGC	OMIM:617816
HP:0004379	Abnormality of alkaline phosphatase level	5314	PKHD1	ORPHA:53035
HP:0004379	Abnormality of alkaline phosphatase level	9420	CYP7B1	ORPHA:79302
HP:0004379	Abnormality of alkaline phosphatase level	9420	CYP7B1	OMIM:613812
HP:0004379	Abnormality of alkaline phosphatase level	7157	TP53	ORPHA:668
HP:0004379	Abnormality of alkaline phosphatase level	5925	RB1	ORPHA:668
HP:0004379	Abnormality of alkaline phosphatase level	11200	CHEK2	ORPHA:668
HP:0004379	Abnormality of alkaline phosphatase level	6718	AKR1D1	ORPHA:79303
HP:0004379	Abnormality of alkaline phosphatase level	6718	AKR1D1	OMIM:235555
HP:0004379	Abnormality of alkaline phosphatase level	5745	PTH1R	OMIM:600002
HP:0004379	Abnormality of alkaline phosphatase level	5745	PTH1R	OMIM:156400
HP:0004379	Abnormality of alkaline phosphatase level	128869	PIGU	OMIM:618590
HP:0004379	Abnormality of alkaline phosphatase level	10165	SLC25A13	OMIM:605814
HP:0004379	Abnormality of alkaline phosphatase level	10165	SLC25A13	ORPHA:247598
HP:0004379	Abnormality of alkaline phosphatase level	6514	SLC2A2	OMIM:227810
HP:0004379	Abnormality of alkaline phosphatase level	6514	SLC2A2	ORPHA:2088
HP:0004379	Abnormality of alkaline phosphatase level	8792	TNFRSF11A	OMIM:174810
HP:0004379	Abnormality of alkaline phosphatase level	8792	TNFRSF11A	OMIM:602080
HP:0004379	Abnormality of alkaline phosphatase level	5244	ABCB4	OMIM:600803
HP:0004379	Abnormality of alkaline phosphatase level	5244	ABCB4	ORPHA:69665
HP:0004379	Abnormality of alkaline phosphatase level	10026	PIGK	OMIM:618879
HP:0004379	Abnormality of alkaline phosphatase level	5176	SERPINF1	OMIM:613982
HP:0004379	Abnormality of alkaline phosphatase level	10686	CLDN16	OMIM:248250
HP:0004379	Abnormality of alkaline phosphatase level	120227	CYP2R1	OMIM:600081
HP:0004379	Abnormality of alkaline phosphatase level	120227	CYP2R1	ORPHA:289157
HP:0004379	Abnormality of alkaline phosphatase level	55650	PIGV	OMIM:239300
HP:0004379	Abnormality of alkaline phosphatase level	55650	PIGV	ORPHA:247262
HP:0004379	Abnormality of alkaline phosphatase level	56975	FAM20C	OMIM:259775
HP:0004379	Abnormality of alkaline phosphatase level	5251	PHEX	OMIM:307800
HP:0004379	Abnormality of alkaline phosphatase level	5251	PHEX	ORPHA:89936
HP:0004379	Abnormality of alkaline phosphatase level	90	ACVR1	OMIM:135100
HP:0004379	Abnormality of alkaline phosphatase level	25839	COG4	ORPHA:263501
HP:0004379	Abnormality of alkaline phosphatase level	25839	COG4	OMIM:613489
HP:0004379	Abnormality of alkaline phosphatase level	84992	PIGY	ORPHA:247262
HP:0004379	Abnormality of alkaline phosphatase level	84992	PIGY	OMIM:616809
HP:0004379	Abnormality of alkaline phosphatase level	84720	PIGO	ORPHA:247262
HP:0004379	Abnormality of alkaline phosphatase level	84720	PIGO	OMIM:614749
HP:0004379	Abnormality of alkaline phosphatase level	93210	PGAP3	ORPHA:247262
HP:0004379	Abnormality of alkaline phosphatase level	93210	PGAP3	OMIM:615716
HP:0004379	Abnormality of alkaline phosphatase level	284098	PIGW	ORPHA:247262
HP:0004379	Abnormality of alkaline phosphatase level	284098	PIGW	OMIM:616025
HP:0004379	Abnormality of alkaline phosphatase level	27315	PGAP2	ORPHA:247262
HP:0004379	Abnormality of alkaline phosphatase level	27315	PGAP2	OMIM:614207
HP:0004379	Abnormality of alkaline phosphatase level	9487	PIGL	ORPHA:247262
HP:0004379	Abnormality of alkaline phosphatase level	9487	PIGL	OMIM:280000
HP:0004379	Abnormality of alkaline phosphatase level	8647	ABCB11	OMIM:601847
HP:0004379	Abnormality of alkaline phosphatase level	8647	ABCB11	OMIM:605479
HP:0004379	Abnormality of alkaline phosphatase level	8647	ABCB11	ORPHA:69665
HP:0004379	Abnormality of alkaline phosphatase level	3930	LBR	OMIM:613471
HP:0004379	Abnormality of alkaline phosphatase level	7019	TFAM	OMIM:617156
HP:0004379	Abnormality of alkaline phosphatase level	56172	ANKH	OMIM:123000
HP:0004379	Abnormality of alkaline phosphatase level	4358	MPV17	OMIM:256810
HP:0004379	Abnormality of alkaline phosphatase level	4982	TNFRSF11B	OMIM:239000
HP:0004379	Abnormality of alkaline phosphatase level	3172	HNF4A	ORPHA:263455
HP:0004379	Abnormality of alkaline phosphatase level	3172	HNF4A	OMIM:616026
HP:0004379	Abnormality of alkaline phosphatase level	1594	CYP27B1	OMIM:264700
HP:0004379	Abnormality of alkaline phosphatase level	1594	CYP27B1	ORPHA:289157
HP:0004379	Abnormality of alkaline phosphatase level	5277	PIGA	OMIM:300868
HP:0004379	Abnormality of alkaline phosphatase level	5277	PIGA	OMIM:301072
HP:0004379	Abnormality of alkaline phosphatase level	57511	COG6	OMIM:614576
HP:0004379	Abnormality of alkaline phosphatase level	3178	HNRNPA1	OMIM:615424
HP:0004379	Abnormality of alkaline phosphatase level	3178	HNRNPA1	OMIM:615426
HP:0004379	Abnormality of alkaline phosphatase level	3178	HNRNPA1	ORPHA:52430
HP:0004379	Abnormality of alkaline phosphatase level	7421	VDR	OMIM:277440
HP:0004379	Abnormality of alkaline phosphatase level	3181	HNRNPA2B1	OMIM:615422
HP:0004379	Abnormality of alkaline phosphatase level	3181	HNRNPA2B1	ORPHA:52430
HP:0004379	Abnormality of alkaline phosphatase level	54872	PIGG	OMIM:616917
HP:0004379	Abnormality of alkaline phosphatase level	6811	STX5	OMIM:620454
HP:0004379	Abnormality of alkaline phosphatase level	79736	TEFM	OMIM:620451
HP:0004379	Abnormality of alkaline phosphatase level	1576	CYP3A4	OMIM:619073
HP:0004379	Abnormality of alkaline phosphatase level	1186	CLCN7	ORPHA:210110
HP:0004379	Abnormality of alkaline phosphatase level	9842	PLEKHM1	ORPHA:210110
HP:0004379	Abnormality of alkaline phosphatase level	8074	FGF23	ORPHA:89937
HP:0004379	Abnormality of alkaline phosphatase level	8074	FGF23	OMIM:193100
HP:0004379	Abnormality of alkaline phosphatase level	5311	PKD2	OMIM:613095
HP:0004379	Abnormality of alkaline phosphatase level	57003	CCDC47	OMIM:618268
HP:0004379	Abnormality of alkaline phosphatase level	142680	SLC34A3	OMIM:241530
HP:0004379	Abnormality of alkaline phosphatase level	94005	PIGS	OMIM:618143
HP:0004379	Abnormality of alkaline phosphatase level	5828	PEX2	OMIM:614866
HP:0004379	Abnormality of alkaline phosphatase level	9091	PIGQ	OMIM:618548
HP:0004379	Abnormality of alkaline phosphatase level	5589	PRKCSH	OMIM:174050
HP:0004379	Abnormality of alkaline phosphatase level	5589	PRKCSH	ORPHA:2924
HP:0004379	Abnormality of alkaline phosphatase level	80025	PANK2	OMIM:234200
HP:0004379	Abnormality of alkaline phosphatase level	3594	IL12RB1	ORPHA:186
HP:0004379	Abnormality of alkaline phosphatase level	23534	TNPO3	ORPHA:186
HP:0004379	Abnormality of alkaline phosphatase level	3592	IL12A	ORPHA:186
HP:0004379	Abnormality of alkaline phosphatase level	6689	SPIB	ORPHA:186
HP:0004379	Abnormality of alkaline phosphatase level	5450	POU2AF1	ORPHA:186
HP:0004379	Abnormality of alkaline phosphatase level	9966	TNFSF15	ORPHA:186
HP:0004379	Abnormality of alkaline phosphatase level	79258	MMEL1	ORPHA:186
HP:0004379	Abnormality of alkaline phosphatase level	3663	IRF5	ORPHA:186
HP:0004379	Abnormality of alkaline phosphatase level	8733	GPAA1	ORPHA:529665
HP:0004379	Abnormality of alkaline phosphatase level	2628	GATM	OMIM:134600
HP:0004379	Abnormality of alkaline phosphatase level	200931	SLC51A	OMIM:619484
HP:0004379	Abnormality of alkaline phosphatase level	5205	ATP8B1	ORPHA:69665
HP:0004379	Abnormality of alkaline phosphatase level	9971	NR1H4	ORPHA:69665
HP:0004379	Abnormality of alkaline phosphatase level	8878	SQSTM1	OMIM:167250
HP:0004379	Abnormality of alkaline phosphatase level	11231	SEC63	ORPHA:2924
HP:0004379	Abnormality of alkaline phosphatase level	4041	LRP5	ORPHA:2924
HP:0004379	Abnormality of alkaline phosphatase level	51473	DCDC2	ORPHA:84081
HP:0004379	Abnormality of alkaline phosphatase level	91147	TMEM67	ORPHA:84081
HP:0004379	Abnormality of alkaline phosphatase level	2542	SLC37A4	OMIM:619525
HP:0004379	Abnormality of alkaline phosphatase level	617	BCS1L	OMIM:124000
HP:0004379	Abnormality of alkaline phosphatase level	7415	VCP	ORPHA:52430
HP:0004379	Abnormality of alkaline phosphatase level	7415	VCP	ORPHA:329475
HP:0004379	Abnormality of alkaline phosphatase level	50964	SOST	OMIM:122860
HP:0004379	Abnormality of alkaline phosphatase level	23387	SIK3	OMIM:618162
HP:0004379	Abnormality of alkaline phosphatase level	811	CALR	ORPHA:131
HP:0004379	Abnormality of alkaline phosphatase level	3717	JAK2	ORPHA:131
HP:0004379	Abnormality of alkaline phosphatase level	2153	F5	ORPHA:131
HP:0004379	Abnormality of alkaline phosphatase level	79989	IFT56	OMIM:619534
HP:0004379	Abnormality of alkaline phosphatase level	5167	ENPP1	OMIM:613312
HP:0004379	Abnormality of alkaline phosphatase level	2591	GALNT3	OMIM:211900
HP:0004379	Abnormality of alkaline phosphatase level	5557	PRIM1	OMIM:620005
HP:0004379	Abnormality of alkaline phosphatase level	54532	USP53	OMIM:619658
HP:0004379	Abnormality of alkaline phosphatase level	63916	ELMO2	OMIM:606893
HP:0004379	Abnormality of alkaline phosphatase level	147007	TMEM199	OMIM:616829
HP:0004379	Abnormality of alkaline phosphatase level	6522	SLC4A2	OMIM:620366
HP:0004379	Abnormality of alkaline phosphatase level	166929	SGMS2	OMIM:126550
HP:0004379	Abnormality of alkaline phosphatase level	60681	FKBP10	OMIM:610968
HP:0004379	Abnormality of alkaline phosphatase level	11277	TREX1	ORPHA:247691
HP:0004379	Abnormality of alkaline phosphatase level	55151	TMEM38B	OMIM:615066
HP:0004379	Abnormality of alkaline phosphatase level	113220	KIF12	OMIM:619662
HP:0004379	Abnormality of alkaline phosphatase level	335	APOA1	OMIM:620657
HP:0004379	Abnormality of alkaline phosphatase level	57592	ZNF687	OMIM:616833
HP:0004379	Abnormality of alkaline phosphatase level	6309	SC5D	OMIM:607330
HP:0004379	Abnormality of alkaline phosphatase level	3988	LIPA	OMIM:278000
HP:0004379	Abnormality of alkaline phosphatase level	249	ALPL	OMIM:146300
HP:0004379	Abnormality of alkaline phosphatase level	249	ALPL	OMIM:241500
HP:0004379	Abnormality of alkaline phosphatase level	249	ALPL	OMIM:241510
HP:0004379	Abnormality of alkaline phosphatase level	55630	SLC39A4	OMIM:201100
HP:0004379	Abnormality of alkaline phosphatase level	497661	C18orf32	OMIM:619985
HP:0004379	Abnormality of alkaline phosphatase level	51604	PIGT	ORPHA:369837
HP:0004379	Abnormality of alkaline phosphatase level	7227	TRPS1	OMIM:190350
HP:0004379	Abnormality of alkaline phosphatase level	633	BGN	OMIM:300106
HP:0004379	Abnormality of alkaline phosphatase level	5281	PIGF	OMIM:619356
HP:0004379	Abnormality of alkaline phosphatase level	3156	HMGCR	OMIM:620375
HP:0004379	Abnormality of alkaline phosphatase level	5283	PIGH	OMIM:618010
HP:0004379	Abnormality of alkaline phosphatase level	6928	HNF1B	OMIM:137920
HP:0004379	Abnormality of alkaline phosphatase level	25	ABL1	OMIM:608232
HP:0004379	Abnormality of alkaline phosphatase level	613	BCR	OMIM:608232
HP:0004379	Abnormality of alkaline phosphatase level	1441	CSF3R	OMIM:162830
HP:0004379	Abnormality of alkaline phosphatase level	2859	GPR35	ORPHA:171
HP:0004379	Abnormality of alkaline phosphatase level	10507	SEMA4D	ORPHA:171
HP:0004379	Abnormality of alkaline phosphatase level	4485	MST1	ORPHA:171
HP:0004379	Abnormality of alkaline phosphatase level	6925	TCF4	ORPHA:171
HP:0004379	Abnormality of alkaline phosphatase level	4883	NPR3	OMIM:619543
HP:0004379	Abnormality of alkaline phosphatase level	6569	SLC34A1	ORPHA:157215
HP:0004379	Abnormality of alkaline phosphatase level	1758	DMP1	ORPHA:289176
HP:0004379	Abnormality of alkaline phosphatase level	368	ABCC6	ORPHA:51608
HP:0004379	Abnormality of alkaline phosphatase level	4882	NPR2	OMIM:615923
HP:0004379	Abnormality of alkaline phosphatase level	1497	CTNS	ORPHA:411634
HP:0004379	Abnormality of alkaline phosphatase level	84317	CCDC115	OMIM:616828
HP:0004379	Abnormality of alkaline phosphatase level	2099	ESR1	ORPHA:785
HP:0004379	Abnormality of alkaline phosphatase level	1053	CEBPE	OMIM:245480
HP:0004378	Abnormality of the anus	64840	PORCN	OMIM:305600
HP:0004378	Abnormality of the anus	10128	LRPPRC	OMIM:220111
HP:0004378	Abnormality of the anus	9791	PTDSS1	OMIM:151050
HP:0004378	Abnormality of the anus	5447	POR	OMIM:201750
HP:0004378	Abnormality of the anus	5447	POR	ORPHA:95699
HP:0004378	Abnormality of the anus	23512	SUZ12	OMIM:618786
HP:0004378	Abnormality of the anus	222546	RFX6	OMIM:615710
HP:0004378	Abnormality of the anus	1024	CDK8	OMIM:618748
HP:0004378	Abnormality of the anus	29957	SLC25A24	OMIM:612289
HP:0004378	Abnormality of the anus	6091	ROBO1	OMIM:620305
HP:0004378	Abnormality of the anus	22800	RRAS2	OMIM:618624
HP:0004378	Abnormality of the anus	1857	DVL3	OMIM:616894
HP:0004378	Abnormality of the anus	8942	KYNU	OMIM:617661
HP:0004378	Abnormality of the anus	28514	DLL1	ORPHA:280195
HP:0004378	Abnormality of the anus	2253	FGF8	ORPHA:280195
HP:0004378	Abnormality of the anus	6496	SIX3	ORPHA:280195
HP:0004378	Abnormality of the anus	7050	TGIF1	ORPHA:280195
HP:0004378	Abnormality of the anus	4838	NODAL	ORPHA:280195
HP:0004378	Abnormality of the anus	6469	SHH	ORPHA:280195
HP:0004378	Abnormality of the anus	7546	ZIC2	ORPHA:280195
HP:0004378	Abnormality of the anus	6491	STIL	ORPHA:280195
HP:0004378	Abnormality of the anus	2619	GAS1	ORPHA:280195
HP:0004378	Abnormality of the anus	84976	DISP1	ORPHA:280195
HP:0004378	Abnormality of the anus	2736	GLI2	ORPHA:280195
HP:0004378	Abnormality of the anus	8928	FOXH1	ORPHA:280195
HP:0004378	Abnormality of the anus	6997	CRIPTO	ORPHA:280195
HP:0004378	Abnormality of the anus	5727	PTCH1	ORPHA:280195
HP:0004378	Abnormality of the anus	50937	CDON	ORPHA:280195
HP:0004378	Abnormality of the anus	1654	DDX3X	ORPHA:3338
HP:0004378	Abnormality of the anus	55650	PIGV	OMIM:239300
HP:0004378	Abnormality of the anus	55650	PIGV	ORPHA:247262
HP:0004378	Abnormality of the anus	4784	NFIX	OMIM:602535
HP:0004378	Abnormality of the anus	84992	PIGY	ORPHA:247262
HP:0004378	Abnormality of the anus	93210	PGAP3	ORPHA:247262
HP:0004378	Abnormality of the anus	284098	PIGW	ORPHA:247262
HP:0004378	Abnormality of the anus	9487	PIGL	ORPHA:247262
HP:0004378	Abnormality of the anus	4081	MAB21L1	ORPHA:495875
HP:0004378	Abnormality of the anus	1108	CHD4	OMIM:617159
HP:0004378	Abnormality of the anus	157570	ESCO2	ORPHA:2319
HP:0004378	Abnormality of the anus	157570	ESCO2	OMIM:216100
HP:0004378	Abnormality of the anus	37	ACADVL	ORPHA:26793
HP:0004378	Abnormality of the anus	1656	DDX6	OMIM:618653
HP:0004378	Abnormality of the anus	1822	ATN1	OMIM:618494
HP:0004378	Abnormality of the anus	1642	DDB1	OMIM:619426
HP:0004378	Abnormality of the anus	26005	C2CD3	OMIM:615948
HP:0004378	Abnormality of the anus	26040	SETBP1	ORPHA:798
HP:0004378	Abnormality of the anus	2737	GLI3	ORPHA:672
HP:0004378	Abnormality of the anus	2737	GLI3	OMIM:146510
HP:0004378	Abnormality of the anus	2737	GLI3	OMIM:175700
HP:0004378	Abnormality of the anus	2737	GLI3	OMIM:174200
HP:0004378	Abnormality of the anus	9361	LONP1	OMIM:600373
HP:0004378	Abnormality of the anus	2294	FOXF1	OMIM:265380
HP:0004378	Abnormality of the anus	2294	FOXF1	ORPHA:210122
HP:0004378	Abnormality of the anus	341640	FREM2	ORPHA:2052
HP:0004378	Abnormality of the anus	341640	FREM2	OMIM:617666
HP:0004378	Abnormality of the anus	23426	GRIP1	ORPHA:2052
HP:0004378	Abnormality of the anus	4683	NBN	OMIM:251260
HP:0004378	Abnormality of the anus	4683	NBN	ORPHA:647
HP:0004378	Abnormality of the anus	117581	TWIST2	OMIM:227260
HP:0004378	Abnormality of the anus	117581	TWIST2	ORPHA:1807
HP:0004378	Abnormality of the anus	23556	PIGN	ORPHA:2059
HP:0004378	Abnormality of the anus	23556	PIGN	ORPHA:280633
HP:0004378	Abnormality of the anus	23556	PIGN	OMIM:614080
HP:0004378	Abnormality of the anus	8195	MKKS	OMIM:236700
HP:0004378	Abnormality of the anus	8195	MKKS	ORPHA:2473
HP:0004378	Abnormality of the anus	145173	B3GLCT	ORPHA:709
HP:0004378	Abnormality of the anus	6650	CAPN15	OMIM:619318
HP:0004378	Abnormality of the anus	253738	EBF3	ORPHA:96148
HP:0004378	Abnormality of the anus	1131	CHRM3	ORPHA:2970
HP:0004378	Abnormality of the anus	1131	CHRM3	OMIM:100100
HP:0004378	Abnormality of the anus	57167	SALL4	OMIM:607323
HP:0004378	Abnormality of the anus	57167	SALL4	ORPHA:2307
HP:0004378	Abnormality of the anus	57167	SALL4	OMIM:147750
HP:0004378	Abnormality of the anus	7473	WNT3	ORPHA:3301
HP:0004378	Abnormality of the anus	7473	WNT3	OMIM:273395
HP:0004378	Abnormality of the anus	340419	RSPO2	ORPHA:3301
HP:0004378	Abnormality of the anus	9496	TBX4	ORPHA:3301
HP:0004378	Abnormality of the anus	81839	VANGL1	ORPHA:3027
HP:0004378	Abnormality of the anus	80199	FUZ	ORPHA:3027
HP:0004378	Abnormality of the anus	10084	PQBP1	ORPHA:93950
HP:0004378	Abnormality of the anus	10084	PQBP1	OMIM:309500
HP:0004378	Abnormality of the anus	197131	UBR1	OMIM:243800
HP:0004378	Abnormality of the anus	197131	UBR1	ORPHA:2315
HP:0004378	Abnormality of the anus	6299	SALL1	OMIM:107480
HP:0004378	Abnormality of the anus	6299	SALL1	ORPHA:857
HP:0004378	Abnormality of the anus	267010	RNU12	OMIM:603116
HP:0004378	Abnormality of the anus	267010	RNU12	ORPHA:85199
HP:0004378	Abnormality of the anus	55112	DYNC2I1	ORPHA:93271
HP:0004378	Abnormality of the anus	57560	IFT80	ORPHA:93271
HP:0004378	Abnormality of the anus	57539	WDR35	ORPHA:93271
HP:0004378	Abnormality of the anus	79659	DYNC2H1	ORPHA:93271
HP:0004378	Abnormality of the anus	79659	DYNC2H1	OMIM:613091
HP:0004378	Abnormality of the anus	89891	DYNC2I2	ORPHA:93271
HP:0004378	Abnormality of the anus	4281	MID1	OMIM:300000
HP:0004378	Abnormality of the anus	4281	MID1	ORPHA:2745
HP:0004378	Abnormality of the anus	374654	KIF7	OMIM:200990
HP:0004378	Abnormality of the anus	3313	HSPA9	OMIM:616854
HP:0004378	Abnormality of the anus	2137	EXTL3	OMIM:617425
HP:0004378	Abnormality of the anus	999	CDH1	OMIM:119580
HP:0004378	Abnormality of the anus	999	CDH1	ORPHA:1997
HP:0004378	Abnormality of the anus	29954	POMT2	OMIM:236670
HP:0004378	Abnormality of the anus	79147	FKRP	OMIM:236670
HP:0004378	Abnormality of the anus	2218	FKTN	OMIM:236670
HP:0004378	Abnormality of the anus	10585	POMT1	OMIM:236670
HP:0004378	Abnormality of the anus	9215	LARGE1	OMIM:236670
HP:0004378	Abnormality of the anus	2187	FANCB	ORPHA:3412
HP:0004378	Abnormality of the anus	2187	FANCB	ORPHA:84
HP:0004378	Abnormality of the anus	2187	FANCB	OMIM:314390
HP:0004378	Abnormality of the anus	1500	CTNND1	ORPHA:1997
HP:0004378	Abnormality of the anus	6926	TBX3	ORPHA:3138
HP:0004378	Abnormality of the anus	6926	TBX3	OMIM:181450
HP:0004378	Abnormality of the anus	7547	ZIC3	OMIM:306955
HP:0004378	Abnormality of the anus	7547	ZIC3	OMIM:314390
HP:0004378	Abnormality of the anus	4072	EPCAM	ORPHA:92050
HP:0004378	Abnormality of the anus	105371045	PERCC1	ORPHA:92050
HP:0004378	Abnormality of the anus	2263	FGFR2	ORPHA:93260
HP:0004378	Abnormality of the anus	2263	FGFR2	ORPHA:93259
HP:0004378	Abnormality of the anus	83871	RAB34	OMIM:620718
HP:0004378	Abnormality of the anus	9401	RECQL4	ORPHA:1225
HP:0004378	Abnormality of the anus	9401	RECQL4	OMIM:218600
HP:0004378	Abnormality of the anus	23522	KAT6B	OMIM:606170
HP:0004378	Abnormality of the anus	9968	MED12	ORPHA:93932
HP:0004378	Abnormality of the anus	9968	MED12	OMIM:305450
HP:0004378	Abnormality of the anus	5308	PITX2	OMIM:180500
HP:0004378	Abnormality of the anus	672	BRCA1	ORPHA:84
HP:0004378	Abnormality of the anus	10459	MAD2L2	ORPHA:84
HP:0004378	Abnormality of the anus	7516	XRCC2	ORPHA:84
HP:0004378	Abnormality of the anus	29089	UBE2T	ORPHA:84
HP:0004378	Abnormality of the anus	675	BRCA2	ORPHA:84
HP:0004378	Abnormality of the anus	675	BRCA2	OMIM:605724
HP:0004378	Abnormality of the anus	55120	FANCL	ORPHA:84
HP:0004378	Abnormality of the anus	55120	FANCL	OMIM:614083
HP:0004378	Abnormality of the anus	2177	FANCD2	ORPHA:84
HP:0004378	Abnormality of the anus	2175	FANCA	ORPHA:84
HP:0004378	Abnormality of the anus	2176	FANCC	ORPHA:84
HP:0004378	Abnormality of the anus	2178	FANCE	ORPHA:84
HP:0004378	Abnormality of the anus	2188	FANCF	ORPHA:84
HP:0004378	Abnormality of the anus	2189	FANCG	ORPHA:84
HP:0004378	Abnormality of the anus	5888	RAD51	ORPHA:84
HP:0004378	Abnormality of the anus	5888	RAD51	OMIM:617244
HP:0004378	Abnormality of the anus	5889	RAD51C	ORPHA:84
HP:0004378	Abnormality of the anus	5889	RAD51C	OMIM:613390
HP:0004378	Abnormality of the anus	55159	RFWD3	ORPHA:84
HP:0004378	Abnormality of the anus	83990	BRIP1	ORPHA:84
HP:0004378	Abnormality of the anus	57697	FANCM	ORPHA:84
HP:0004378	Abnormality of the anus	79728	PALB2	ORPHA:84
HP:0004378	Abnormality of the anus	79728	PALB2	OMIM:610832
HP:0004378	Abnormality of the anus	84464	SLX4	ORPHA:84
HP:0004378	Abnormality of the anus	2072	ERCC4	ORPHA:84
HP:0004378	Abnormality of the anus	55215	FANCI	ORPHA:84
HP:0004378	Abnormality of the anus	1312	COMT	ORPHA:567
HP:0004378	Abnormality of the anus	221037	JMJD1C	ORPHA:567
HP:0004378	Abnormality of the anus	2812	GP1BB	ORPHA:567
HP:0004378	Abnormality of the anus	6239	RREB1	ORPHA:567
HP:0004378	Abnormality of the anus	6899	TBX1	ORPHA:567
HP:0004378	Abnormality of the anus	7290	HIRA	ORPHA:567
HP:0004378	Abnormality of the anus	9632	SEC24C	ORPHA:567
HP:0004378	Abnormality of the anus	7353	UFD1	ORPHA:567
HP:0004378	Abnormality of the anus	421	ARVCF	ORPHA:567
HP:0004378	Abnormality of the anus	25942	SIN3A	ORPHA:94065
HP:0004378	Abnormality of the anus	25	ABL1	OMIM:617602
HP:0004378	Abnormality of the anus	23065	EMC1	OMIM:616875
HP:0004378	Abnormality of the anus	23065	EMC1	ORPHA:480898
HP:0004378	Abnormality of the anus	55012	PPP2R3C	OMIM:618419
HP:0004378	Abnormality of the anus	23495	TNFRSF13B	ORPHA:1572
HP:0004378	Abnormality of the anus	4790	NFKB1	ORPHA:1572
HP:0004378	Abnormality of the anus	4791	NFKB2	ORPHA:1572
HP:0004378	Abnormality of the anus	115650	TNFRSF13C	ORPHA:1572
HP:0004378	Abnormality of the anus	1380	CR2	ORPHA:1572
HP:0004378	Abnormality of the anus	8742	TNFSF12	ORPHA:1572
HP:0004378	Abnormality of the anus	930	CD19	ORPHA:1572
HP:0004378	Abnormality of the anus	29851	ICOS	ORPHA:1572
HP:0004378	Abnormality of the anus	931	MS4A1	ORPHA:1572
HP:0004378	Abnormality of the anus	975	CD81	ORPHA:1572
HP:0004378	Abnormality of the anus	359948	IRF2BP2	ORPHA:1572
HP:0004378	Abnormality of the anus	55636	CHD7	OMIM:214800
HP:0004378	Abnormality of the anus	10046	MAMLD1	ORPHA:95706
HP:0004378	Abnormality of the anus	367	AR	ORPHA:95706
HP:0004378	Abnormality of the anus	11193	WBP4	OMIM:620852
HP:0004378	Abnormality of the anus	8642	DCHS1	OMIM:601390
HP:0004378	Abnormality of the anus	6862	TBXT	OMIM:615709
HP:0004378	Abnormality of the anus	4613	MYCN	ORPHA:391641
HP:0004378	Abnormality of the anus	54880	BCOR	OMIM:309800
HP:0004378	Abnormality of the anus	8260	NAA10	OMIM:309800
HP:0004378	Abnormality of the anus	55773	TBC1D23	OMIM:617695
HP:0004378	Abnormality of the anus	92002	CCNQ	OMIM:300707
HP:0004378	Abnormality of the anus	92002	CCNQ	ORPHA:140952
HP:0004378	Abnormality of the anus	8239	USP9X	ORPHA:480880
HP:0004378	Abnormality of the anus	8239	USP9X	OMIM:300968
HP:0004378	Abnormality of the anus	84720	PIGO	OMIM:614749
HP:0004378	Abnormality of the anus	10653	SPINT2	OMIM:270420
HP:0004378	Abnormality of the anus	79228	THOC6	ORPHA:363444
HP:0004378	Abnormality of the anus	79813	EHMT1	ORPHA:261652
HP:0004378	Abnormality of the anus	58508	KMT2C	ORPHA:261652
HP:0004378	Abnormality of the anus	8318	CDC45	OMIM:617063
HP:0004378	Abnormality of the anus	51339	DACT1	OMIM:617466
HP:0004378	Abnormality of the anus	51339	DACT1	ORPHA:857
HP:0004378	Abnormality of the anus	51339	DACT1	ORPHA:63260
HP:0004378	Abnormality of the anus	79803	HPS6	OMIM:614075
HP:0004378	Abnormality of the anus	23112	TNRC6B	OMIM:619243
HP:0004378	Abnormality of the anus	3110	MNX1	ORPHA:1552
HP:0004378	Abnormality of the anus	3110	MNX1	OMIM:176450
HP:0004378	Abnormality of the anus	57466	SCAF4	OMIM:620511
HP:0004378	Abnormality of the anus	7291	TWIST1	OMIM:617746
HP:0004378	Abnormality of the anus	139285	AMER1	OMIM:300373
HP:0004378	Abnormality of the anus	9897	WASHC5	OMIM:220210
HP:0004378	Abnormality of the anus	9897	WASHC5	ORPHA:7
HP:0004378	Abnormality of the anus	153241	CEP120	OMIM:616300
HP:0004378	Abnormality of the anus	7476	WNT7A	ORPHA:2879
HP:0004378	Abnormality of the anus	25836	NIPBL	OMIM:122470
HP:0004378	Abnormality of the anus	1807	DPYS	OMIM:222748
HP:0004378	Abnormality of the anus	26123	TCTN3	ORPHA:2753
HP:0004378	Abnormality of the anus	3239	HOXD13	ORPHA:887
HP:0004378	Abnormality of the anus	28952	CCDC22	ORPHA:7
HP:0004378	Abnormality of the anus	57020	VPS35L	ORPHA:7
HP:0004378	Abnormality of the anus	56896	DPYSL5	ORPHA:7
HP:0004378	Abnormality of the anus	51733	UPB1	OMIM:613161
HP:0004378	Abnormality of the anus	54903	MKS1	OMIM:249000
HP:0004378	Abnormality of the anus	54101	RIPK4	OMIM:263650
HP:0004378	Abnormality of the anus	9573	GDF3	ORPHA:2345
HP:0004378	Abnormality of the anus	392255	GDF6	ORPHA:2345
HP:0004378	Abnormality of the anus	4222	MEOX1	ORPHA:2345
HP:0004378	Abnormality of the anus	27152	INTU	OMIM:617925
HP:0004378	Abnormality of the anus	2719	GPC3	OMIM:312870
HP:0004378	Abnormality of the anus	2239	GPC4	OMIM:312870
HP:0004378	Abnormality of the anus	8085	KMT2D	OMIM:147920
HP:0004378	Abnormality of the anus	7403	KDM6A	OMIM:147920
HP:0004378	Abnormality of the anus	3981	LIG4	ORPHA:235
HP:0004378	Abnormality of the anus	54888	NSUN2	ORPHA:235
HP:0004378	Abnormality of the anus	6628	SNRPB	OMIM:117650
HP:0004378	Abnormality of the anus	6608	SMO	OMIM:601707
HP:0004378	Abnormality of the anus	6023	RMRP	OMIM:250250
HP:0004378	Abnormality of the anus	775	CACNA1C	OMIM:620029
HP:0004378	Abnormality of the anus	27315	PGAP2	OMIM:614207
HP:0004378	Abnormality of the anus	158326	FREM1	ORPHA:2717
HP:0004378	Abnormality of the anus	158326	FREM1	ORPHA:217266
HP:0004378	Abnormality of the anus	158326	FREM1	OMIM:248450
HP:0004378	Abnormality of the anus	2296	FOXC1	ORPHA:782
HP:0004378	Abnormality of the anus	84667	HES7	OMIM:613686
HP:0004378	Abnormality of the anus	79633	FAT4	ORPHA:314679
HP:0004378	Abnormality of the anus	5590	PRKCZ	ORPHA:1606
HP:0004378	Abnormality of the anus	2563	GABRD	ORPHA:1606
HP:0004378	Abnormality of the anus	23013	SPEN	ORPHA:1606
HP:0004378	Abnormality of the anus	8510	MMP23B	ORPHA:1606
HP:0004378	Abnormality of the anus	7798	LUZP1	ORPHA:1606
HP:0004378	Abnormality of the anus	6497	SKI	ORPHA:1606
HP:0004378	Abnormality of the anus	10630	PDPN	ORPHA:1606
HP:0004378	Abnormality of the anus	3339	HSPG2	ORPHA:1606
HP:0004378	Abnormality of the anus	10277	UBE4B	ORPHA:1606
HP:0004378	Abnormality of the anus	8514	KCNAB2	ORPHA:1606
HP:0004378	Abnormality of the anus	473	RERE	ORPHA:1606
HP:0004378	Abnormality of the anus	63976	PRDM16	ORPHA:1606
HP:0004378	Abnormality of the anus	54897	CASZ1	ORPHA:1606
HP:0004378	Abnormality of the anus	10225	CD96	ORPHA:1308
HP:0004378	Abnormality of the anus	55612	FERMT1	ORPHA:2908
HP:0004378	Abnormality of the anus	2313	FLI1	ORPHA:2308
HP:0004378	Abnormality of the anus	80144	FRAS1	OMIM:219000
HP:0004378	Abnormality of the anus	8626	TP63	ORPHA:93930
HP:0004378	Abnormality of the anus	3670	ISL1	ORPHA:93930
HP:0004378	Abnormality of the anus	1009	CDH11	OMIM:211380
HP:0004378	Abnormality of the anus	54539	NDUFB11	ORPHA:2556
HP:0004378	Abnormality of the anus	1349	COX7B	ORPHA:2556
HP:0004378	Abnormality of the anus	3052	HCCS	ORPHA:2556
HP:0004378	Abnormality of the anus	64359	NXN	ORPHA:1507
HP:0004378	Abnormality of the anus	4920	ROR2	ORPHA:1507
HP:0004378	Abnormality of the anus	488	ATP2A2	ORPHA:218
HP:0004378	Abnormality of the anus	1736	DKC1	OMIM:305000
HP:0004378	Abnormality of the anus	6850	SYK	OMIM:619381
HP:0004378	Abnormality of the anus	4689	NCF4	OMIM:613960
HP:0004378	Abnormality of the anus	917	CD3G	OMIM:615607
HP:0004378	Abnormality of the anus	5317	PKP1	ORPHA:158668
HP:0004378	Abnormality of the anus	81704	DOCK8	ORPHA:217390
HP:0004378	Abnormality of the anus	2000	ELF4	OMIM:301074
HP:0004378	Abnormality of the anus	7040	TGFB1	OMIM:618213
HP:0004378	Abnormality of the anus	4688	NCF2	OMIM:233710
HP:0004378	Abnormality of the anus	79415	CYBC1	OMIM:618935
HP:0004378	Abnormality of the anus	92579	G6PC3	OMIM:612541
HP:0004378	Abnormality of the anus	3587	IL10RA	OMIM:613148
HP:0004378	Abnormality of the anus	22806	IKZF3	OMIM:619437
HP:0004378	Abnormality of the anus	4149	MAX	OMIM:620712
HP:0004378	Abnormality of the anus	3588	IL10RB	OMIM:612567
HP:0004378	Abnormality of the anus	8737	RIPK1	OMIM:618108
HP:0004378	Abnormality of the anus	29927	SEC61A1	OMIM:620674
HP:0004378	Abnormality of the anus	1991	ELANE	ORPHA:2686
HP:0004378	Abnormality of the anus	6868	ADAM17	ORPHA:294023
HP:0004378	Abnormality of the anus	1956	EGFR	ORPHA:294023
HP:0004378	Abnormality of the anus	50619	DEF6	OMIM:619573
HP:0004378	Abnormality of the anus	4312	MMP1	ORPHA:79408
HP:0004378	Abnormality of the anus	1294	COL7A1	ORPHA:79408
HP:0004378	Abnormality of the anus	1294	COL7A1	ORPHA:89842
HP:0004377	Hematological neoplasm	2177	FANCD2	OMIM:227646
HP:0004377	Hematological neoplasm	2176	FANCC	OMIM:227645
HP:0004377	Hematological neoplasm	2189	FANCG	OMIM:614082
HP:0004377	Hematological neoplasm	8294	H4C9	OMIM:619951
HP:0004377	Hematological neoplasm	6335	SCN9A	ORPHA:90026
HP:0004377	Hematological neoplasm	11280	SCN11A	ORPHA:90026
HP:0004377	Hematological neoplasm	6336	SCN10A	ORPHA:90026
HP:0004377	Hematological neoplasm	2033	EP300	OMIM:180849
HP:0004377	Hematological neoplasm	1387	CREBBP	OMIM:180849
HP:0004377	Hematological neoplasm	9401	RECQL4	ORPHA:221016
HP:0004377	Hematological neoplasm	7012	TERC	OMIM:614743
HP:0004377	Hematological neoplasm	324	APC	ORPHA:99818
HP:0004377	Hematological neoplasm	55505	NOP10	OMIM:620400
HP:0004377	Hematological neoplasm	2065	ERBB3	OMIM:133180
HP:0004377	Hematological neoplasm	5925	RB1	OMIM:180200
HP:0004377	Hematological neoplasm	701	BUB1B	OMIM:257300
HP:0004377	Hematological neoplasm	7157	TP53	ORPHA:524
HP:0004377	Hematological neoplasm	1029	CDKN2A	ORPHA:524
HP:0004377	Hematological neoplasm	4193	MDM2	ORPHA:524
HP:0004377	Hematological neoplasm	11200	CHEK2	ORPHA:524
HP:0004377	Hematological neoplasm	10312	TCIRG1	ORPHA:486
HP:0004377	Hematological neoplasm	6728	SRP19	ORPHA:486
HP:0004377	Hematological neoplasm	1991	ELANE	ORPHA:486
HP:0004377	Hematological neoplasm	2672	GFI1	ORPHA:486
HP:0004377	Hematological neoplasm	81570	CLPB	ORPHA:486
HP:0004377	Hematological neoplasm	4615	MYD88	ORPHA:33226
HP:0004377	Hematological neoplasm	4615	MYD88	OMIM:153600
HP:0004377	Hematological neoplasm	4893	NRAS	OMIM:614470
HP:0004377	Hematological neoplasm	2178	FANCE	OMIM:600901
HP:0004377	Hematological neoplasm	2175	FANCA	OMIM:227650
HP:0004377	Hematological neoplasm	2624	GATA2	OMIM:614038
HP:0004377	Hematological neoplasm	3832	KIF11	ORPHA:2526
HP:0004377	Hematological neoplasm	641	BLM	OMIM:210900
HP:0004377	Hematological neoplasm	472	ATM	OMIM:208900
HP:0004377	Hematological neoplasm	8216	LZTR1	OMIM:605275
HP:0004377	Hematological neoplasm	4763	NF1	ORPHA:97685
HP:0004377	Hematological neoplasm	134218	DNAJC21	ORPHA:811
HP:0004377	Hematological neoplasm	79631	EFL1	ORPHA:811
HP:0004377	Hematological neoplasm	51119	SBDS	ORPHA:811
HP:0004377	Hematological neoplasm	23476	BRD4	ORPHA:443167
HP:0004377	Hematological neoplasm	256646	NUTM1	ORPHA:443167
HP:0004377	Hematological neoplasm	64682	ANAPC1	ORPHA:221008
HP:0004377	Hematological neoplasm	5566	PRKACA	ORPHA:289
HP:0004377	Hematological neoplasm	5567	PRKACB	ORPHA:289
HP:0004377	Hematological neoplasm	2735	GLI1	ORPHA:289
HP:0004377	Hematological neoplasm	2121	EVC	ORPHA:289
HP:0004377	Hematological neoplasm	51626	DYNC2LI1	ORPHA:289
HP:0004377	Hematological neoplasm	132884	EVC2	ORPHA:289
HP:0004377	Hematological neoplasm	412	STS	ORPHA:281090
HP:0004377	Hematological neoplasm	7305	TYROBP	ORPHA:2770
HP:0004377	Hematological neoplasm	54209	TREM2	ORPHA:2770
HP:0004377	Hematological neoplasm	9487	PIGL	ORPHA:3474
HP:0004377	Hematological neoplasm	3561	IL2RG	ORPHA:276
HP:0004377	Hematological neoplasm	3561	IL2RG	ORPHA:39041
HP:0004377	Hematological neoplasm	3981	LIG4	ORPHA:235
HP:0004377	Hematological neoplasm	3981	LIG4	ORPHA:99812
HP:0004377	Hematological neoplasm	3981	LIG4	ORPHA:39041
HP:0004377	Hematological neoplasm	54888	NSUN2	ORPHA:235
HP:0004377	Hematological neoplasm	5551	PRF1	OMIM:605027
HP:0004377	Hematological neoplasm	8915	BCL10	OMIM:605027
HP:0004377	Hematological neoplasm	25788	RAD54B	OMIM:605027
HP:0004377	Hematological neoplasm	843	CASP10	OMIM:605027
HP:0004377	Hematological neoplasm	8438	RAD54L	OMIM:605027
HP:0004377	Hematological neoplasm	1493	CTLA4	ORPHA:436159
HP:0004377	Hematological neoplasm	1493	CTLA4	ORPHA:3162
HP:0004377	Hematological neoplasm	1493	CTLA4	ORPHA:2584
HP:0004377	Hematological neoplasm	4683	NBN	OMIM:251260
HP:0004377	Hematological neoplasm	4683	NBN	ORPHA:647
HP:0004377	Hematological neoplasm	6023	RMRP	OMIM:250250
HP:0004377	Hematological neoplasm	6023	RMRP	ORPHA:39041
HP:0004377	Hematological neoplasm	4860	PNP	OMIM:613179
HP:0004377	Hematological neoplasm	5238	PGM3	ORPHA:443811
HP:0004377	Hematological neoplasm	987	LRBA	OMIM:614700
HP:0004377	Hematological neoplasm	7454	WAS	ORPHA:906
HP:0004377	Hematological neoplasm	7456	WIPF1	ORPHA:906
HP:0004377	Hematological neoplasm	5728	PTEN	ORPHA:109
HP:0004377	Hematological neoplasm	5728	PTEN	ORPHA:397596
HP:0004377	Hematological neoplasm	7518	XRCC4	ORPHA:99812
HP:0004377	Hematological neoplasm	55636	CHD7	ORPHA:39041
HP:0004377	Hematological neoplasm	5896	RAG1	ORPHA:39041
HP:0004377	Hematological neoplasm	5897	RAG2	ORPHA:39041
HP:0004377	Hematological neoplasm	64421	DCLRE1C	ORPHA:39041
HP:0004377	Hematological neoplasm	100	ADA	ORPHA:39041
HP:0004377	Hematological neoplasm	3575	IL7R	ORPHA:39041
HP:0004377	Hematological neoplasm	1776	DNASE1L3	ORPHA:36412
HP:0004377	Hematological neoplasm	596	BCL2	ORPHA:545
HP:0004377	Hematological neoplasm	3492	IGH	ORPHA:545
HP:0004377	Hematological neoplasm	3123	HLA-DRB1	ORPHA:545
HP:0004377	Hematological neoplasm	604	BCL6	ORPHA:545
HP:0004377	Hematological neoplasm	1729	DIAPH1	ORPHA:477814
HP:0004377	Hematological neoplasm	5293	PIK3CD	ORPHA:397596
HP:0004377	Hematological neoplasm	5295	PIK3R1	ORPHA:397596
HP:0004377	Hematological neoplasm	939	CD27	OMIM:615122
HP:0004377	Hematological neoplasm	4068	SH2D1A	OMIM:308240
HP:0004377	Hematological neoplasm	331	XIAP	OMIM:308240
HP:0004377	Hematological neoplasm	940	CD28	ORPHA:3162
HP:0004377	Hematological neoplasm	940	CD28	ORPHA:2584
HP:0004377	Hematological neoplasm	7133	TNFRSF1B	ORPHA:3162
HP:0004377	Hematological neoplasm	7133	TNFRSF1B	ORPHA:2584
HP:0004377	Hematological neoplasm	115650	TNFRSF13C	OMIM:240500
HP:0004377	Hematological neoplasm	115650	TNFRSF13C	ORPHA:1572
HP:0004377	Hematological neoplasm	29851	ICOS	OMIM:240500
HP:0004377	Hematological neoplasm	29851	ICOS	ORPHA:1572
HP:0004377	Hematological neoplasm	930	CD19	OMIM:240500
HP:0004377	Hematological neoplasm	930	CD19	ORPHA:1572
HP:0004377	Hematological neoplasm	23495	TNFRSF13B	OMIM:240500
HP:0004377	Hematological neoplasm	23495	TNFRSF13B	ORPHA:1572
HP:0004377	Hematological neoplasm	1380	CR2	OMIM:240500
HP:0004377	Hematological neoplasm	1380	CR2	ORPHA:1572
HP:0004377	Hematological neoplasm	84061	MAGT1	OMIM:300853
HP:0004377	Hematological neoplasm	6774	STAT3	ORPHA:2314
HP:0004377	Hematological neoplasm	3117	HLA-DQA1	OMIM:212750
HP:0004377	Hematological neoplasm	3119	HLA-DQB1	OMIM:212750
HP:0004377	Hematological neoplasm	3514	IGKC	ORPHA:183675
HP:0004377	Hematological neoplasm	3501	IGHG2	ORPHA:183675
HP:0004377	Hematological neoplasm	51428	DDX41	OMIM:616871
HP:0004377	Hematological neoplasm	8626	TP63	ORPHA:1896
HP:0004377	Hematological neoplasm	80169	CTC1	ORPHA:1775
HP:0004377	Hematological neoplasm	26277	TINF2	ORPHA:1775
HP:0004377	Hematological neoplasm	55651	NHP2	ORPHA:1775
HP:0004377	Hematological neoplasm	79650	USB1	ORPHA:1775
HP:0004377	Hematological neoplasm	55135	WRAP53	ORPHA:1775
HP:0004377	Hematological neoplasm	51750	RTEL1	ORPHA:1775
HP:0004377	Hematological neoplasm	4869	NPM1	ORPHA:1775
HP:0004377	Hematological neoplasm	5073	PARN	ORPHA:1775
HP:0004377	Hematological neoplasm	7015	TERT	ORPHA:1775
HP:0004377	Hematological neoplasm	1736	DKC1	ORPHA:1775
HP:0004377	Hematological neoplasm	7298	TYMS	ORPHA:1775
HP:0004377	Hematological neoplasm	4790	NFKB1	ORPHA:1572
HP:0004377	Hematological neoplasm	4791	NFKB2	ORPHA:1572
HP:0004377	Hematological neoplasm	8742	TNFSF12	ORPHA:1572
HP:0004377	Hematological neoplasm	931	MS4A1	ORPHA:1572
HP:0004377	Hematological neoplasm	975	CD81	ORPHA:1572
HP:0004377	Hematological neoplasm	359948	IRF2BP2	ORPHA:1572
HP:0004377	Hematological neoplasm	7535	ZAP70	ORPHA:911
HP:0004377	Hematological neoplasm	128	ADH5	OMIM:619151
HP:0004377	Hematological neoplasm	7066	THPO	ORPHA:71493
HP:0004377	Hematological neoplasm	6208	RPS14	OMIM:153550
HP:0004377	Hematological neoplasm	6208	RPS14	ORPHA:86841
HP:0004377	Hematological neoplasm	54809	SAMD9	OMIM:617053
HP:0004377	Hematological neoplasm	54809	SAMD9	OMIM:619041
HP:0004377	Hematological neoplasm	23308	ICOSLG	OMIM:620825
HP:0004377	Hematological neoplasm	219285	SAMD9L	OMIM:252270
HP:0004377	Hematological neoplasm	5781	PTPN11	ORPHA:500
HP:0004377	Hematological neoplasm	673	BRAF	ORPHA:500
HP:0004377	Hematological neoplasm	5894	RAF1	ORPHA:500
HP:0004377	Hematological neoplasm	23451	SF3B1	ORPHA:75564
HP:0004377	Hematological neoplasm	23451	SF3B1	OMIM:614286
HP:0004377	Hematological neoplasm	114803	MYSM1	ORPHA:508542
HP:0004377	Hematological neoplasm	7317	UBA1	OMIM:301054
HP:0004377	Hematological neoplasm	6729	SRP54	OMIM:260400
HP:0004377	Hematological neoplasm	55159	RFWD3	OMIM:617784
HP:0004377	Hematological neoplasm	55159	RFWD3	ORPHA:84
HP:0004377	Hematological neoplasm	546	ATRX	OMIM:300448
HP:0004377	Hematological neoplasm	546	ATRX	ORPHA:231401
HP:0004377	Hematological neoplasm	6731	SRP72	OMIM:614675
HP:0004377	Hematological neoplasm	6117	RPA1	OMIM:619767
HP:0004377	Hematological neoplasm	7486	WRN	OMIM:277700
HP:0004377	Hematological neoplasm	9837	GINS1	OMIM:617827
HP:0004377	Hematological neoplasm	2782	GNB1	OMIM:614286
HP:0004377	Hematological neoplasm	6603	SMARCD2	OMIM:617475
HP:0004377	Hematological neoplasm	162417	NAGS	ORPHA:927
HP:0004377	Hematological neoplasm	672	BRCA1	ORPHA:84
HP:0004377	Hematological neoplasm	10459	MAD2L2	ORPHA:84
HP:0004377	Hematological neoplasm	7516	XRCC2	ORPHA:84
HP:0004377	Hematological neoplasm	29089	UBE2T	ORPHA:84
HP:0004377	Hematological neoplasm	675	BRCA2	ORPHA:84
HP:0004377	Hematological neoplasm	55120	FANCL	ORPHA:84
HP:0004377	Hematological neoplasm	2187	FANCB	ORPHA:84
HP:0004377	Hematological neoplasm	2188	FANCF	ORPHA:84
HP:0004377	Hematological neoplasm	5888	RAD51	ORPHA:84
HP:0004377	Hematological neoplasm	5889	RAD51C	ORPHA:84
HP:0004377	Hematological neoplasm	83990	BRIP1	ORPHA:84
HP:0004377	Hematological neoplasm	57697	FANCM	ORPHA:84
HP:0004377	Hematological neoplasm	79728	PALB2	ORPHA:84
HP:0004377	Hematological neoplasm	84464	SLX4	ORPHA:84
HP:0004377	Hematological neoplasm	2072	ERCC4	ORPHA:84
HP:0004377	Hematological neoplasm	55215	FANCI	ORPHA:84
HP:0004377	Hematological neoplasm	92345	NAF1	OMIM:620365
HP:0004377	Hematological neoplasm	23218	NBEAL2	ORPHA:721
HP:0004377	Hematological neoplasm	6223	RPS19	OMIM:105650
HP:0004377	Hematological neoplasm	6223	RPS19	ORPHA:124
HP:0004377	Hematological neoplasm	1441	CSF3R	OMIM:162830
HP:0004377	Hematological neoplasm	6138	RPL15	ORPHA:124
HP:0004377	Hematological neoplasm	6224	RPS20	ORPHA:124
HP:0004377	Hematological neoplasm	6165	RPL35A	ORPHA:124
HP:0004377	Hematological neoplasm	6132	RPL8	ORPHA:124
HP:0004377	Hematological neoplasm	6232	RPS27	ORPHA:124
HP:0004377	Hematological neoplasm	55027	HEATR3	ORPHA:124
HP:0004377	Hematological neoplasm	6160	RPL31	ORPHA:124
HP:0004377	Hematological neoplasm	6201	RPS7	ORPHA:124
HP:0004377	Hematological neoplasm	6155	RPL27	ORPHA:124
HP:0004377	Hematological neoplasm	6234	RPS28	ORPHA:124
HP:0004377	Hematological neoplasm	6135	RPL11	ORPHA:124
HP:0004377	Hematological neoplasm	6229	RPS24	ORPHA:124
HP:0004377	Hematological neoplasm	6125	RPL5	ORPHA:124
HP:0004377	Hematological neoplasm	6204	RPS10	ORPHA:124
HP:0004377	Hematological neoplasm	2623	GATA1	ORPHA:124
HP:0004377	Hematological neoplasm	6133	RPL9	ORPHA:124
HP:0004377	Hematological neoplasm	6231	RPS26	ORPHA:124
HP:0004377	Hematological neoplasm	11224	RPL35	ORPHA:124
HP:0004377	Hematological neoplasm	6218	RPS17	ORPHA:124
HP:0004377	Hematological neoplasm	6154	RPL26	ORPHA:124
HP:0004377	Hematological neoplasm	6210	RPS15A	ORPHA:124
HP:0004377	Hematological neoplasm	90121	TSR2	ORPHA:124
HP:0004377	Hematological neoplasm	6141	RPL18	ORPHA:124
HP:0004377	Hematological neoplasm	6235	RPS29	ORPHA:124
HP:0004377	Hematological neoplasm	51816	ADA2	ORPHA:124
HP:0004377	Hematological neoplasm	9184	BUB3	ORPHA:1052
HP:0004377	Hematological neoplasm	699	BUB1	ORPHA:1052
HP:0004377	Hematological neoplasm	9702	CEP57	ORPHA:1052
HP:0004377	Hematological neoplasm	9319	TRIP13	ORPHA:1052
HP:0004377	Hematological neoplasm	10019	SH2B3	ORPHA:3318
HP:0004377	Hematological neoplasm	10456	HAX1	OMIM:610738
HP:0004377	Hematological neoplasm	4072	EPCAM	ORPHA:144
HP:0004377	Hematological neoplasm	4292	MLH1	ORPHA:144
HP:0004377	Hematological neoplasm	5395	PMS2	ORPHA:144
HP:0004377	Hematological neoplasm	7048	TGFBR2	ORPHA:144
HP:0004377	Hematological neoplasm	3845	KRAS	ORPHA:144
HP:0004377	Hematological neoplasm	5290	PIK3CA	ORPHA:144
HP:0004377	Hematological neoplasm	2956	MSH6	ORPHA:144
HP:0004377	Hematological neoplasm	5378	PMS1	ORPHA:144
HP:0004377	Hematological neoplasm	4436	MSH2	ORPHA:144
HP:0004377	Hematological neoplasm	171023	ASXL1	ORPHA:98850
HP:0004377	Hematological neoplasm	171023	ASXL1	ORPHA:98849
HP:0004377	Hematological neoplasm	54790	TET2	ORPHA:98850
HP:0004377	Hematological neoplasm	54790	TET2	ORPHA:98849
HP:0004377	Hematological neoplasm	54790	TET2	ORPHA:824
HP:0004377	Hematological neoplasm	867	CBL	ORPHA:98850
HP:0004377	Hematological neoplasm	861	RUNX1	ORPHA:98850
HP:0004377	Hematological neoplasm	6427	SRSF2	ORPHA:98850
HP:0004377	Hematological neoplasm	6427	SRSF2	ORPHA:98849
HP:0004377	Hematological neoplasm	3815	KIT	ORPHA:98849
HP:0004377	Hematological neoplasm	811	CALR	ORPHA:824
HP:0004377	Hematological neoplasm	4352	MPL	ORPHA:824
HP:0004377	Hematological neoplasm	3717	JAK2	ORPHA:824
HP:0004377	Hematological neoplasm	4210	MEFV	ORPHA:3243
HP:0004377	Hematological neoplasm	5777	PTPN6	ORPHA:3243
HP:0004377	Hematological neoplasm	26511	CHIC2	OMIM:601626
HP:0004377	Hematological neoplasm	4026	LPP	OMIM:601626
HP:0004377	Hematological neoplasm	8021	NUP214	OMIM:601626
HP:0004377	Hematological neoplasm	8301	PICALM	OMIM:601626
HP:0004377	Hematological neoplasm	8028	MLLT10	OMIM:601626
HP:0004377	Hematological neoplasm	2322	FLT3	OMIM:601626
HP:0004377	Hematological neoplasm	1050	CEBPA	OMIM:601626
HP:0004377	Hematological neoplasm	2120	ETV6	OMIM:601626
HP:0004377	Hematological neoplasm	6455	SH3GL1	OMIM:601626
HP:0004377	Hematological neoplasm	8930	MBD4	OMIM:619975
HP:0004377	Hematological neoplasm	6929	TCF3	OMIM:619824
HP:0004377	Hematological neoplasm	3417	IDH1	ORPHA:99646
HP:0004377	Hematological neoplasm	150274	HSCB	OMIM:619523
HP:0004377	Hematological neoplasm	3313	HSPA9	OMIM:182170
HP:0004377	Hematological neoplasm	5914	RARA	OMIM:612376
HP:0004377	Hematological neoplasm	6609	SMPD1	ORPHA:77293
HP:0004377	Hematological neoplasm	161742	SPRED1	ORPHA:137605
HP:0004377	Hematological neoplasm	970	CD70	OMIM:618261
HP:0004377	Hematological neoplasm	3702	ITK	OMIM:613011
HP:0004377	Hematological neoplasm	50485	SMARCAL1	ORPHA:1830
HP:0004377	Hematological neoplasm	1503	CTPS1	OMIM:615897
HP:0004377	Hematological neoplasm	5580	PRKCD	OMIM:615559
HP:0004377	Hematological neoplasm	6789	STK4	OMIM:614868
HP:0004377	Hematological neoplasm	4173	MCM4	OMIM:609981
HP:0004377	Hematological neoplasm	613	BCR	ORPHA:521
HP:0004377	Hematological neoplasm	25	ABL1	ORPHA:521
HP:0004377	Hematological neoplasm	210	ALAD	ORPHA:100924
HP:0004377	Hematological neoplasm	5156	PDGFRA	OMIM:607685
HP:0004377	Hematological neoplasm	10535	RNASEH2A	ORPHA:51
HP:0004377	Hematological neoplasm	84153	RNASEH2C	ORPHA:51
HP:0004377	Hematological neoplasm	25939	SAMHD1	ORPHA:51
HP:0004377	Hematological neoplasm	79621	RNASEH2B	ORPHA:51
HP:0004377	Hematological neoplasm	103	ADAR	ORPHA:51
HP:0004377	Hematological neoplasm	11277	TREX1	ORPHA:51
HP:0004377	Hematological neoplasm	100147744	RNU7-1	ORPHA:51
HP:0004377	Hematological neoplasm	134353	LSM11	ORPHA:51
HP:0004377	Hematological neoplasm	64135	IFIH1	ORPHA:51
HP:0004377	Hematological neoplasm	6886	TAL1	OMIM:613065
HP:0004377	Hematological neoplasm	6887	TAL2	OMIM:613065
HP:0004377	Hematological neoplasm	581	BAX	OMIM:613065
HP:0004377	Hematological neoplasm	10320	IKZF1	OMIM:616873
HP:0004377	Hematological neoplasm	64324	NSD1	ORPHA:821
HP:0004377	Hematological neoplasm	10297	APC2	ORPHA:821
HP:0004377	Hematological neoplasm	1854	DUT	OMIM:620044
HP:0004377	Hematological neoplasm	2629	GBA1	OMIM:230800
HP:0004377	Hematological neoplasm	2629	GBA1	ORPHA:77259
HP:0004377	Hematological neoplasm	595	CCND1	OMIM:254500
HP:0004377	Hematological neoplasm	950	SCARB2	ORPHA:77259
HP:0004377	Hematological neoplasm	5159	PDGFRB	OMIM:131440
HP:0004377	Hematological neoplasm	3604	TNFRSF9	OMIM:620282
HP:0004377	Hematological neoplasm	355	FAS	ORPHA:3261
HP:0004377	Hematological neoplasm	356	FASLG	ORPHA:3261
HP:0004377	Hematological neoplasm	54894	RNF43	ORPHA:157798
HP:0004377	Hematological neoplasm	50619	DEF6	OMIM:619573
HP:0004377	Hematological neoplasm	8651	SOCS1	OMIM:619375
HP:0004377	Hematological neoplasm	6925	TCF4	ORPHA:2896
HP:0004377	Hematological neoplasm	200942	KLHDC8B	OMIM:236000
HP:0004377	Hematological neoplasm	7373	COL14A1	ORPHA:79501
HP:0004377	Hematological neoplasm	79719	AAGAB	ORPHA:79501
HP:0004377	Hematological neoplasm	5426	POLE	OMIM:618336
HP:0004377	Hematological neoplasm	57217	TTC7A	OMIM:243150
HP:0004377	Hematological neoplasm	6850	SYK	OMIM:619381
HP:0004377	Hematological neoplasm	330	BIRC3	ORPHA:52417
HP:0004377	Hematological neoplasm	10892	MALT1	ORPHA:52417
HP:0004377	Hematological neoplasm	27086	FOXP1	ORPHA:52417
HP:0004377	Hematological neoplasm	23149	FCHO1	OMIM:619164
HP:0004377	Hematological neoplasm	5788	PTPRC	OMIM:619924
HP:0004377	Hematological neoplasm	10125	RASGRP1	OMIM:618534
HP:0004377	Hematological neoplasm	22806	IKZF3	OMIM:619437
HP:0004377	Hematological neoplasm	6778	STAT6	OMIM:620532
HP:0004377	Hematological neoplasm	4773	NFATC2	OMIM:620232
HP:0004377	Hematological neoplasm	22800	RRAS2	ORPHA:648
HP:0004377	Hematological neoplasm	6016	RIT1	ORPHA:648
HP:0004377	Hematological neoplasm	6237	RRAS	ORPHA:648
HP:0004377	Hematological neoplasm	22808	MRAS	ORPHA:648
HP:0004377	Hematological neoplasm	200734	SPRED2	ORPHA:648
HP:0004377	Hematological neoplasm	6654	SOS1	ORPHA:648
HP:0004377	Hematological neoplasm	6655	SOS2	ORPHA:648
HP:0004377	Hematological neoplasm	5922	RASA2	ORPHA:648
HP:0004377	Hematological neoplasm	23092	ARHGAP26	OMIM:607785
HP:0004377	Hematological neoplasm	5604	MAP2K1	OMIM:163950
HP:0004377	Hematological neoplasm	2165	F13B	ORPHA:331
HP:0004377	Hematological neoplasm	2162	F13A1	ORPHA:331
HP:0004377	Hematological neoplasm	1788	DNMT3A	ORPHA:404443
HP:0004377	Hematological neoplasm	26040	SETBP1	ORPHA:798
HP:0004377	Hematological neoplasm	4913	NTHL1	ORPHA:454840
HP:0004377	Hematological neoplasm	399	RHOH	OMIM:618307
HP:0004377	Hematological neoplasm	4609	MYC	OMIM:113970
HP:0004377	Hematological neoplasm	84868	HAVCR2	OMIM:618398
HP:0004376	Neuroblastic tumor	4763	NF1	OMIM:601321
HP:0004376	Neuroblastic tumor	7528	YY1	ORPHA:506358
HP:0004376	Neuroblastic tumor	2239	GPC4	ORPHA:373
HP:0004376	Neuroblastic tumor	2719	GPC3	ORPHA:373
HP:0004376	Neuroblastic tumor	6390	SDHB	OMIM:115310
HP:0004376	Neuroblastic tumor	8929	PHOX2B	OMIM:209880
HP:0004376	Neuroblastic tumor	8929	PHOX2B	OMIM:613013
HP:0004376	Neuroblastic tumor	8929	PHOX2B	ORPHA:661
HP:0004376	Neuroblastic tumor	8929	PHOX2B	ORPHA:99803
HP:0004376	Neuroblastic tumor	8929	PHOX2B	ORPHA:635
HP:0004376	Neuroblastic tumor	4613	MYCN	OMIM:620748
HP:0004376	Neuroblastic tumor	4613	MYCN	ORPHA:635
HP:0004376	Neuroblastic tumor	5590	PRKCZ	ORPHA:1606
HP:0004376	Neuroblastic tumor	2563	GABRD	ORPHA:1606
HP:0004376	Neuroblastic tumor	23013	SPEN	ORPHA:1606
HP:0004376	Neuroblastic tumor	8510	MMP23B	ORPHA:1606
HP:0004376	Neuroblastic tumor	7798	LUZP1	ORPHA:1606
HP:0004376	Neuroblastic tumor	6497	SKI	ORPHA:1606
HP:0004376	Neuroblastic tumor	10630	PDPN	ORPHA:1606
HP:0004376	Neuroblastic tumor	3339	HSPG2	ORPHA:1606
HP:0004376	Neuroblastic tumor	10277	UBE4B	ORPHA:1606
HP:0004376	Neuroblastic tumor	8514	KCNAB2	ORPHA:1606
HP:0004376	Neuroblastic tumor	473	RERE	ORPHA:1606
HP:0004376	Neuroblastic tumor	63976	PRDM16	ORPHA:1606
HP:0004376	Neuroblastic tumor	54897	CASZ1	ORPHA:1606
HP:0004376	Neuroblastic tumor	4292	MLH1	OMIM:276300
HP:0004376	Neuroblastic tumor	4292	MLH1	ORPHA:144
HP:0004376	Neuroblastic tumor	5781	PTPN11	ORPHA:500
HP:0004376	Neuroblastic tumor	673	BRAF	ORPHA:500
HP:0004376	Neuroblastic tumor	5894	RAF1	ORPHA:500
HP:0004376	Neuroblastic tumor	64324	NSD1	ORPHA:821
HP:0004376	Neuroblastic tumor	10297	APC2	ORPHA:821
HP:0004376	Neuroblastic tumor	861	RUNX1	OMIM:601399
HP:0004376	Neuroblastic tumor	4072	EPCAM	ORPHA:144
HP:0004376	Neuroblastic tumor	5395	PMS2	ORPHA:144
HP:0004376	Neuroblastic tumor	7048	TGFBR2	ORPHA:144
HP:0004376	Neuroblastic tumor	3845	KRAS	ORPHA:144
HP:0004376	Neuroblastic tumor	5290	PIK3CA	ORPHA:144
HP:0004376	Neuroblastic tumor	2956	MSH6	ORPHA:144
HP:0004376	Neuroblastic tumor	5378	PMS1	ORPHA:144
HP:0004376	Neuroblastic tumor	4436	MSH2	ORPHA:144
HP:0004376	Neuroblastic tumor	1908	EDN3	ORPHA:661
HP:0004376	Neuroblastic tumor	2668	GDNF	ORPHA:661
HP:0004376	Neuroblastic tumor	627	BDNF	ORPHA:661
HP:0004376	Neuroblastic tumor	10660	LBX1	ORPHA:661
HP:0004376	Neuroblastic tumor	283446	MYO1H	ORPHA:661
HP:0004376	Neuroblastic tumor	64218	SEMA4A	ORPHA:440437
HP:0004376	Neuroblastic tumor	472	ATM	ORPHA:440437
HP:0004376	Neuroblastic tumor	5426	POLE	ORPHA:440437
HP:0004376	Neuroblastic tumor	675	BRCA2	ORPHA:440437
HP:0004376	Neuroblastic tumor	657	BMPR1A	ORPHA:440437
HP:0004376	Neuroblastic tumor	6224	RPS20	ORPHA:440437
HP:0004376	Neuroblastic tumor	4595	MUTYH	ORPHA:440437
HP:0004376	Neuroblastic tumor	5424	POLD1	ORPHA:440437
HP:0004376	Neuroblastic tumor	11200	CHEK2	ORPHA:440437
HP:0004376	Neuroblastic tumor	23095	KIF1B	OMIM:256700
HP:0004376	Neuroblastic tumor	79728	PALB2	OMIM:610832
HP:0004376	Neuroblastic tumor	5979	RET	ORPHA:99803
HP:0004376	Neuroblastic tumor	429	ASCL1	ORPHA:99803
HP:0004376	Neuroblastic tumor	23476	BRD4	ORPHA:443167
HP:0004376	Neuroblastic tumor	256646	NUTM1	ORPHA:443167
HP:0004376	Neuroblastic tumor	238	ALK	ORPHA:635
HP:0004376	Neuroblastic tumor	389421	LIN28B	ORPHA:635
HP:0004376	Neuroblastic tumor	4004	LMO1	ORPHA:635
HP:0004376	Neuroblastic tumor	57531	HACE1	ORPHA:635
HP:0004376	Neuroblastic tumor	203068	TUBB	ORPHA:2505
HP:0004376	Neuroblastic tumor	203068	TUBB	OMIM:156610
HP:0004376	Neuroblastic tumor	10982	MAPRE2	ORPHA:2505
HP:0004375	Neoplasm of the nervous system	3815	KIT	OMIM:606764
HP:0004375	Neoplasm of the nervous system	6711	SPTBN1	OMIM:619475
HP:0004375	Neoplasm of the nervous system	8314	BAP1	ORPHA:2495
HP:0004375	Neoplasm of the nervous system	5155	PDGFB	ORPHA:2495
HP:0004375	Neoplasm of the nervous system	84231	TRAF7	ORPHA:2495
HP:0004375	Neoplasm of the nervous system	6608	SMO	ORPHA:2495
HP:0004375	Neoplasm of the nervous system	7015	TERT	ORPHA:2495
HP:0004375	Neoplasm of the nervous system	51684	SUFU	ORPHA:2495
HP:0004375	Neoplasm of the nervous system	51684	SUFU	OMIM:620343
HP:0004375	Neoplasm of the nervous system	6605	SMARCE1	ORPHA:2495
HP:0004375	Neoplasm of the nervous system	4035	LRP1	ORPHA:79100
HP:0004375	Neoplasm of the nervous system	2737	GLI3	ORPHA:672
HP:0004375	Neoplasm of the nervous system	2737	GLI3	OMIM:146510
HP:0004375	Neoplasm of the nervous system	8481	OFD1	OMIM:311200
HP:0004375	Neoplasm of the nervous system	8481	OFD1	ORPHA:2754
HP:0004375	Neoplasm of the nervous system	64601	VPS16	OMIM:619291
HP:0004375	Neoplasm of the nervous system	4990	SIX6	OMIM:206900
HP:0004375	Neoplasm of the nervous system	6657	SOX2	OMIM:206900
HP:0004375	Neoplasm of the nervous system	4123	MAN2C1	OMIM:619775
HP:0004375	Neoplasm of the nervous system	65250	CPLANE1	OMIM:277170
HP:0004375	Neoplasm of the nervous system	65250	CPLANE1	ORPHA:2754
HP:0004375	Neoplasm of the nervous system	7074	TIAM1	OMIM:619908
HP:0004375	Neoplasm of the nervous system	79583	TMEM231	ORPHA:2754
HP:0004375	Neoplasm of the nervous system	10210	TOPORS	ORPHA:2754
HP:0004375	Neoplasm of the nervous system	9851	KIAA0753	ORPHA:2754
HP:0004375	Neoplasm of the nervous system	26123	TCTN3	ORPHA:2754
HP:0004375	Neoplasm of the nervous system	5147	PDE6D	ORPHA:2754
HP:0004375	Neoplasm of the nervous system	51259	TMEM216	ORPHA:2754
HP:0004375	Neoplasm of the nervous system	317662	FAM149B1	ORPHA:2754
HP:0004375	Neoplasm of the nervous system	374654	KIF7	ORPHA:2754
HP:0004375	Neoplasm of the nervous system	1743	DLST	OMIM:618475
HP:0004375	Neoplasm of the nervous system	55654	TMEM127	OMIM:171300
HP:0004375	Neoplasm of the nervous system	4149	MAX	OMIM:171300
HP:0004375	Neoplasm of the nervous system	3458	IFNG	ORPHA:805
HP:0004375	Neoplasm of the nervous system	7248	TSC1	ORPHA:805
HP:0004375	Neoplasm of the nervous system	7249	TSC2	ORPHA:805
HP:0004375	Neoplasm of the nervous system	546	ATRX	ORPHA:100075
HP:0004375	Neoplasm of the nervous system	8402	SLC25A11	OMIM:618464
HP:0004375	Neoplasm of the nervous system	8402	SLC25A11	ORPHA:29072
HP:0004375	Neoplasm of the nervous system	6389	SDHA	OMIM:614165
HP:0004375	Neoplasm of the nervous system	6389	SDHA	ORPHA:29072
HP:0004375	Neoplasm of the nervous system	4191	MDH2	ORPHA:29072
HP:0004375	Neoplasm of the nervous system	2271	FH	ORPHA:29072
HP:0004375	Neoplasm of the nervous system	54949	SDHAF2	ORPHA:29072
HP:0004375	Neoplasm of the nervous system	2034	EPAS1	ORPHA:276621
HP:0004375	Neoplasm of the nervous system	5727	PTCH1	ORPHA:377
HP:0004375	Neoplasm of the nervous system	8643	PTCH2	ORPHA:377
HP:0004375	Neoplasm of the nervous system	1026	CDKN1A	ORPHA:652
HP:0004375	Neoplasm of the nervous system	1030	CDKN2B	ORPHA:652
HP:0004375	Neoplasm of the nervous system	1031	CDKN2C	ORPHA:652
HP:0004375	Neoplasm of the nervous system	4913	NTHL1	ORPHA:454840
HP:0004375	Neoplasm of the nervous system	4913	NTHL1	OMIM:616415
HP:0004375	Neoplasm of the nervous system	7486	WRN	ORPHA:902
HP:0004375	Neoplasm of the nervous system	7486	WRN	OMIM:277700
HP:0004375	Neoplasm of the nervous system	8665	EIF3F	OMIM:618295
HP:0004375	Neoplasm of the nervous system	4893	NRAS	OMIM:249400
HP:0004375	Neoplasm of the nervous system	2033	EP300	ORPHA:353284
HP:0004375	Neoplasm of the nervous system	4000	LMNA	ORPHA:79474
HP:0004375	Neoplasm of the nervous system	4330	MN1	OMIM:607174
HP:0004375	Neoplasm of the nervous system	23405	DICER1	OMIM:601200
HP:0004375	Neoplasm of the nervous system	171023	ASXL1	ORPHA:97297
HP:0004375	Neoplasm of the nervous system	23432	GPR161	OMIM:155255
HP:0004375	Neoplasm of the nervous system	1499	CTNNB1	OMIM:155255
HP:0004375	Neoplasm of the nervous system	8518	ELP1	OMIM:155255
HP:0004375	Neoplasm of the nervous system	4683	NBN	OMIM:251260
HP:0004375	Neoplasm of the nervous system	79728	PALB2	OMIM:610832
HP:0004375	Neoplasm of the nervous system	2064	ERBB2	OMIM:137800
HP:0004375	Neoplasm of the nervous system	3417	IDH1	OMIM:137800
HP:0004375	Neoplasm of the nervous system	26040	SETBP1	ORPHA:798
HP:0004375	Neoplasm of the nervous system	5979	RET	OMIM:162300
HP:0004375	Neoplasm of the nervous system	5979	RET	ORPHA:99803
HP:0004375	Neoplasm of the nervous system	23095	KIF1B	OMIM:256700
HP:0004375	Neoplasm of the nervous system	429	ASCL1	ORPHA:99803
HP:0004375	Neoplasm of the nervous system	2239	GPC4	ORPHA:373
HP:0004375	Neoplasm of the nervous system	2719	GPC3	ORPHA:373
HP:0004375	Neoplasm of the nervous system	5590	PRKCZ	ORPHA:1606
HP:0004375	Neoplasm of the nervous system	2563	GABRD	ORPHA:1606
HP:0004375	Neoplasm of the nervous system	23013	SPEN	ORPHA:1606
HP:0004375	Neoplasm of the nervous system	8510	MMP23B	ORPHA:1606
HP:0004375	Neoplasm of the nervous system	7798	LUZP1	ORPHA:1606
HP:0004375	Neoplasm of the nervous system	6497	SKI	ORPHA:1606
HP:0004375	Neoplasm of the nervous system	10630	PDPN	ORPHA:1606
HP:0004375	Neoplasm of the nervous system	3339	HSPG2	ORPHA:1606
HP:0004375	Neoplasm of the nervous system	10277	UBE4B	ORPHA:1606
HP:0004375	Neoplasm of the nervous system	8514	KCNAB2	ORPHA:1606
HP:0004375	Neoplasm of the nervous system	473	RERE	ORPHA:1606
HP:0004375	Neoplasm of the nervous system	63976	PRDM16	ORPHA:1606
HP:0004375	Neoplasm of the nervous system	54897	CASZ1	ORPHA:1606
HP:0004375	Neoplasm of the nervous system	5781	PTPN11	ORPHA:500
HP:0004375	Neoplasm of the nervous system	673	BRAF	ORPHA:500
HP:0004375	Neoplasm of the nervous system	5894	RAF1	ORPHA:500
HP:0004375	Neoplasm of the nervous system	64324	NSD1	ORPHA:821
HP:0004375	Neoplasm of the nervous system	10297	APC2	ORPHA:821
HP:0004375	Neoplasm of the nervous system	861	RUNX1	OMIM:601399
HP:0004375	Neoplasm of the nervous system	23476	BRD4	ORPHA:443167
HP:0004375	Neoplasm of the nervous system	256646	NUTM1	ORPHA:443167
HP:0004375	Neoplasm of the nervous system	4665	NAB2	ORPHA:2126
HP:0004375	Neoplasm of the nervous system	6778	STAT6	ORPHA:2126
HP:0004375	Neoplasm of the nervous system	8929	PHOX2B	ORPHA:2151
HP:0004375	Neoplasm of the nervous system	8929	PHOX2B	ORPHA:635
HP:0004375	Neoplasm of the nervous system	4613	MYCN	ORPHA:635
HP:0004375	Neoplasm of the nervous system	238	ALK	ORPHA:635
HP:0004375	Neoplasm of the nervous system	389421	LIN28B	ORPHA:635
HP:0004375	Neoplasm of the nervous system	4004	LMO1	ORPHA:635
HP:0004375	Neoplasm of the nervous system	57531	HACE1	ORPHA:635
HP:0004375	Neoplasm of the nervous system	79944	L2HGDH	ORPHA:79314
HP:0004375	Neoplasm of the nervous system	203068	TUBB	ORPHA:2505
HP:0004375	Neoplasm of the nervous system	203068	TUBB	OMIM:156610
HP:0004375	Neoplasm of the nervous system	10982	MAPRE2	ORPHA:2505
HP:0004375	Neoplasm of the nervous system	57688	ZSWIM6	ORPHA:1827
HP:0004375	Neoplasm of the nervous system	57688	ZSWIM6	OMIM:603671
HP:0004375	Neoplasm of the nervous system	257	ALX3	OMIM:136760
HP:0004375	Neoplasm of the nervous system	257	ALX3	ORPHA:391474
HP:0004375	Neoplasm of the nervous system	8092	ALX1	ORPHA:306542
HP:0004375	Neoplasm of the nervous system	9817	KEAP1	ORPHA:276399
HP:0004375	Neoplasm of the nervous system	389692	MAFA	OMIM:147630
HP:0004375	Neoplasm of the nervous system	3767	KCNJ11	ORPHA:79644
HP:0004375	Neoplasm of the nervous system	3735	KARS1	OMIM:613641
HP:0004375	Neoplasm of the nervous system	3265	HRAS	OMIM:218040
HP:0004375	Neoplasm of the nervous system	4437	MSH3	OMIM:617100
HP:0004375	Neoplasm of the nervous system	4437	MSH3	ORPHA:480536
HP:0004375	Neoplasm of the nervous system	3418	IDH2	ORPHA:163634
HP:0004375	Neoplasm of the nervous system	595	CCND1	OMIM:193300
HP:0004375	Neoplasm of the nervous system	7428	VHL	OMIM:193300
HP:0004375	Neoplasm of the nervous system	2639	GCDH	ORPHA:25
HP:0004375	Neoplasm of the nervous system	65998	ZFTA	ORPHA:251636
HP:0004375	Neoplasm of the nervous system	4771	NF2	ORPHA:93921
HP:0004375	Neoplasm of the nervous system	4771	NF2	ORPHA:637
HP:0004375	Neoplasm of the nervous system	6598	SMARCB1	ORPHA:93921
HP:0004375	Neoplasm of the nervous system	6598	SMARCB1	OMIM:162091
HP:0004375	Neoplasm of the nervous system	51004	COQ6	ORPHA:93921
HP:0004375	Neoplasm of the nervous system	8216	LZTR1	ORPHA:93921
HP:0004375	Neoplasm of the nervous system	8216	LZTR1	OMIM:615670
HP:0004375	Neoplasm of the nervous system	1387	CREBBP	ORPHA:353281
HP:0004375	Neoplasm of the nervous system	2313	FLI1	ORPHA:370348
HP:0004375	Neoplasm of the nervous system	5925	RB1	OMIM:180200
HP:0004375	Neoplasm of the nervous system	81839	VANGL1	OMIM:600145
HP:0004375	Neoplasm of the nervous system	3110	MNX1	ORPHA:1552
HP:0004375	Neoplasm of the nervous system	6134	RPL10	ORPHA:435938
HP:0004375	Neoplasm of the nervous system	2642	GCGR	ORPHA:438274
HP:0004375	Neoplasm of the nervous system	11235	PDCD10	ORPHA:221061
HP:0004375	Neoplasm of the nervous system	83605	CCM2	ORPHA:221061
HP:0004375	Neoplasm of the nervous system	889	KRIT1	ORPHA:221061
HP:0004375	Neoplasm of the nervous system	5426	POLE	ORPHA:447877
HP:0004375	Neoplasm of the nervous system	5424	POLD1	ORPHA:447877
HP:0004375	Neoplasm of the nervous system	4763	NF1	ORPHA:97685
HP:0004375	Neoplasm of the nervous system	7373	COL14A1	ORPHA:79501
HP:0004375	Neoplasm of the nervous system	79719	AAGAB	ORPHA:79501
HP:0004375	Neoplasm of the nervous system	25978	CHMP2B	ORPHA:100070
HP:0004375	Neoplasm of the nervous system	5663	PSEN1	ORPHA:100070
HP:0004375	Neoplasm of the nervous system	2896	GRN	ORPHA:100070
HP:0004375	Neoplasm of the nervous system	54664	TMEM106B	ORPHA:100070
HP:0004375	Neoplasm of the nervous system	4137	MAPT	ORPHA:100070
HP:0004375	Neoplasm of the nervous system	54209	TREM2	ORPHA:100070
HP:0004375	Neoplasm of the nervous system	7415	VCP	ORPHA:100070
HP:0004375	Neoplasm of the nervous system	1908	EDN3	ORPHA:661
HP:0004375	Neoplasm of the nervous system	2668	GDNF	ORPHA:661
HP:0004375	Neoplasm of the nervous system	627	BDNF	ORPHA:661
HP:0004375	Neoplasm of the nervous system	10660	LBX1	ORPHA:661
HP:0004375	Neoplasm of the nervous system	283446	MYO1H	ORPHA:661
HP:0004375	Neoplasm of the nervous system	10483	SEC23B	ORPHA:201
HP:0004375	Neoplasm of the nervous system	5728	PTEN	ORPHA:201
HP:0004375	Neoplasm of the nervous system	6390	SDHB	ORPHA:201
HP:0004375	Neoplasm of the nervous system	6392	SDHD	ORPHA:201
HP:0004375	Neoplasm of the nervous system	6391	SDHC	ORPHA:201
HP:0004375	Neoplasm of the nervous system	207	AKT1	ORPHA:201
HP:0004375	Neoplasm of the nervous system	207	AKT1	ORPHA:744
HP:0004375	Neoplasm of the nervous system	205717	USF3	ORPHA:201
HP:0004375	Neoplasm of the nervous system	5290	PIK3CA	ORPHA:201
HP:0004375	Neoplasm of the nervous system	100144748	KLLN	ORPHA:201
HP:0004375	Neoplasm of the nervous system	2048	EPHB2	OMIM:603688
HP:0004375	Neoplasm of the nervous system	2130	EWSR1	ORPHA:83469
HP:0004375	Neoplasm of the nervous system	7490	WT1	ORPHA:83469
HP:0004375	Neoplasm of the nervous system	324	APC	ORPHA:99818
HP:0004375	Neoplasm of the nervous system	161742	SPRED1	ORPHA:137605
HP:0004375	Neoplasm of the nervous system	7157	TP53	ORPHA:524
HP:0004375	Neoplasm of the nervous system	1029	CDKN2A	ORPHA:524
HP:0004375	Neoplasm of the nervous system	4193	MDM2	ORPHA:524
HP:0004375	Neoplasm of the nervous system	11200	CHEK2	ORPHA:524
HP:0004375	Neoplasm of the nervous system	5573	PRKAR1A	OMIM:160980
HP:0004375	Neoplasm of the nervous system	5573	PRKAR1A	ORPHA:1359
HP:0004375	Neoplasm of the nervous system	8930	MBD4	OMIM:619975
HP:0004375	Neoplasm of the nervous system	54894	RNF43	ORPHA:157798
HP:0004375	Neoplasm of the nervous system	50940	PDE11A	ORPHA:1359
HP:0004375	Neoplasm of the nervous system	2260	FGFR1	OMIM:613001
HP:0004375	Neoplasm of the nervous system	79798	ARMC5	ORPHA:189427
HP:0004375	Neoplasm of the nervous system	23028	KDM1A	ORPHA:189427
HP:0004375	Neoplasm of the nervous system	2778	GNAS	ORPHA:189427
HP:0004375	Neoplasm of the nervous system	4221	MEN1	ORPHA:97279
HP:0004375	Neoplasm of the nervous system	7528	YY1	ORPHA:97279
HP:0004375	Neoplasm of the nervous system	1788	DNMT3A	ORPHA:404443
HP:0004375	Neoplasm of the nervous system	1027	CDKN1B	ORPHA:276152
HP:0004375	Neoplasm of the nervous system	64218	SEMA4A	ORPHA:440437
HP:0004375	Neoplasm of the nervous system	472	ATM	ORPHA:440437
HP:0004375	Neoplasm of the nervous system	675	BRCA2	ORPHA:440437
HP:0004375	Neoplasm of the nervous system	657	BMPR1A	ORPHA:440437
HP:0004375	Neoplasm of the nervous system	6224	RPS20	ORPHA:440437
HP:0004375	Neoplasm of the nervous system	4595	MUTYH	ORPHA:440437
HP:0004375	Neoplasm of the nervous system	4072	EPCAM	ORPHA:144
HP:0004375	Neoplasm of the nervous system	4292	MLH1	ORPHA:144
HP:0004375	Neoplasm of the nervous system	5395	PMS2	ORPHA:144
HP:0004375	Neoplasm of the nervous system	7048	TGFBR2	ORPHA:144
HP:0004375	Neoplasm of the nervous system	3845	KRAS	ORPHA:144
HP:0004375	Neoplasm of the nervous system	2956	MSH6	ORPHA:144
HP:0004375	Neoplasm of the nervous system	5378	PMS1	ORPHA:144
HP:0004375	Neoplasm of the nervous system	4436	MSH2	ORPHA:144
HP:0004375	Neoplasm of the nervous system	9508	ADAMTS3	ORPHA:2136
HP:0004375	Neoplasm of the nervous system	147372	CCBE1	ORPHA:2136
HP:0004375	Neoplasm of the nervous system	79633	FAT4	ORPHA:2136
HP:0004375	Neoplasm of the nervous system	4854	NOTCH3	ORPHA:2591
HP:0004375	Neoplasm of the nervous system	5159	PDGFRB	ORPHA:2591
HP:0004375	Neoplasm of the nervous system	4952	OCRL	ORPHA:534
HP:0004375	Neoplasm of the nervous system	51057	WDPCP	ORPHA:1338
HP:0004375	Neoplasm of the nervous system	55262	TRAPPC14	OMIM:618351
HP:0004374	Hemiplegia/hemiparesis	5654	HTRA1	ORPHA:199354
HP:0004374	Hemiplegia/hemiparesis	4558	MT-TF	ORPHA:550
HP:0004374	Hemiplegia/hemiparesis	4558	MT-TF	OMIM:540000
HP:0004374	Hemiplegia/hemiparesis	4572	MT-TQ	ORPHA:550
HP:0004374	Hemiplegia/hemiparesis	4572	MT-TQ	OMIM:540000
HP:0004374	Hemiplegia/hemiparesis	4512	MT-CO1	ORPHA:550
HP:0004374	Hemiplegia/hemiparesis	4512	MT-CO1	OMIM:540000
HP:0004374	Hemiplegia/hemiparesis	4513	MT-CO2	ORPHA:550
HP:0004374	Hemiplegia/hemiparesis	4513	MT-CO2	OMIM:540000
HP:0004374	Hemiplegia/hemiparesis	4514	MT-CO3	ORPHA:550
HP:0004374	Hemiplegia/hemiparesis	4514	MT-CO3	OMIM:540000
HP:0004374	Hemiplegia/hemiparesis	4578	MT-TW	ORPHA:550
HP:0004374	Hemiplegia/hemiparesis	4578	MT-TW	OMIM:540000
HP:0004374	Hemiplegia/hemiparesis	4540	MT-ND5	ORPHA:550
HP:0004374	Hemiplegia/hemiparesis	4540	MT-ND5	OMIM:540000
HP:0004374	Hemiplegia/hemiparesis	4541	MT-ND6	ORPHA:550
HP:0004374	Hemiplegia/hemiparesis	4541	MT-ND6	OMIM:540000
HP:0004374	Hemiplegia/hemiparesis	4535	MT-ND1	ORPHA:550
HP:0004374	Hemiplegia/hemiparesis	4535	MT-ND1	OMIM:540000
HP:0004374	Hemiplegia/hemiparesis	4538	MT-ND4	ORPHA:550
HP:0004374	Hemiplegia/hemiparesis	4574	MT-TS1	ORPHA:550
HP:0004374	Hemiplegia/hemiparesis	4574	MT-TS1	OMIM:540000
HP:0004374	Hemiplegia/hemiparesis	4575	MT-TS2	ORPHA:550
HP:0004374	Hemiplegia/hemiparesis	4575	MT-TS2	OMIM:540000
HP:0004374	Hemiplegia/hemiparesis	4564	MT-TH	ORPHA:550
HP:0004374	Hemiplegia/hemiparesis	4524	MTHFR	ORPHA:395
HP:0004374	Hemiplegia/hemiparesis	2982	GUCY1A1	OMIM:615750
HP:0004374	Hemiplegia/hemiparesis	8314	BAP1	ORPHA:2495
HP:0004374	Hemiplegia/hemiparesis	4771	NF2	ORPHA:2495
HP:0004374	Hemiplegia/hemiparesis	4771	NF2	ORPHA:637
HP:0004374	Hemiplegia/hemiparesis	5155	PDGFB	ORPHA:2495
HP:0004374	Hemiplegia/hemiparesis	84231	TRAF7	ORPHA:2495
HP:0004374	Hemiplegia/hemiparesis	6608	SMO	ORPHA:2495
HP:0004374	Hemiplegia/hemiparesis	207	AKT1	ORPHA:2495
HP:0004374	Hemiplegia/hemiparesis	7015	TERT	ORPHA:2495
HP:0004374	Hemiplegia/hemiparesis	51684	SUFU	ORPHA:2495
HP:0004374	Hemiplegia/hemiparesis	6605	SMARCE1	ORPHA:2495
HP:0004374	Hemiplegia/hemiparesis	1282	COL4A1	OMIM:175780
HP:0004374	Hemiplegia/hemiparesis	23600	AMACR	OMIM:614307
HP:0004374	Hemiplegia/hemiparesis	7174	TPP2	ORPHA:444463
HP:0004374	Hemiplegia/hemiparesis	51816	ADA2	ORPHA:820
HP:0004374	Hemiplegia/hemiparesis	8405	SPOP	OMIM:618829
HP:0004374	Hemiplegia/hemiparesis	2776	GNAQ	ORPHA:624
HP:0004374	Hemiplegia/hemiparesis	478	ATP1A3	OMIM:601338
HP:0004374	Hemiplegia/hemiparesis	1630	DCC	OMIM:617542
HP:0004374	Hemiplegia/hemiparesis	50485	SMARCAL1	ORPHA:1830
HP:0004374	Hemiplegia/hemiparesis	347733	TUBB2B	OMIM:610031
HP:0004374	Hemiplegia/hemiparesis	347733	TUBB2B	ORPHA:300573
HP:0004374	Hemiplegia/hemiparesis	57465	TBC1D24	ORPHA:352596
HP:0004374	Hemiplegia/hemiparesis	57465	TBC1D24	OMIM:615338
HP:0004374	Hemiplegia/hemiparesis	6507	SLC1A3	OMIM:612656
HP:0004374	Hemiplegia/hemiparesis	29110	TBK1	OMIM:617900
HP:0004374	Hemiplegia/hemiparesis	2475	MTOR	ORPHA:99802
HP:0004374	Hemiplegia/hemiparesis	2475	MTOR	OMIM:607341
HP:0004374	Hemiplegia/hemiparesis	10000	AKT3	ORPHA:99802
HP:0004374	Hemiplegia/hemiparesis	10551	AGR2	OMIM:620233
HP:0004374	Hemiplegia/hemiparesis	3516	RBPJ	ORPHA:974
HP:0004374	Hemiplegia/hemiparesis	4851	NOTCH1	ORPHA:974
HP:0004374	Hemiplegia/hemiparesis	57514	ARHGAP31	ORPHA:974
HP:0004374	Hemiplegia/hemiparesis	57572	DOCK6	ORPHA:974
HP:0004374	Hemiplegia/hemiparesis	285203	EOGT	ORPHA:974
HP:0004374	Hemiplegia/hemiparesis	54567	DLL4	ORPHA:974
HP:0004374	Hemiplegia/hemiparesis	284403	WDR62	OMIM:604317
HP:0004374	Hemiplegia/hemiparesis	10059	DNM1L	ORPHA:98673
HP:0004374	Hemiplegia/hemiparesis	4976	OPA1	ORPHA:98673
HP:0004374	Hemiplegia/hemiparesis	4519	MT-CYB	OMIM:540000
HP:0004374	Hemiplegia/hemiparesis	4511	MT-TC	OMIM:540000
HP:0004374	Hemiplegia/hemiparesis	4577	MT-TV	OMIM:540000
HP:0004374	Hemiplegia/hemiparesis	4566	MT-TK	OMIM:540000
HP:0004374	Hemiplegia/hemiparesis	6513	SLC2A1	OMIM:606777
HP:0004374	Hemiplegia/hemiparesis	6513	SLC2A1	ORPHA:71277
HP:0004374	Hemiplegia/hemiparesis	23221	RHOBTB2	OMIM:618004
HP:0004374	Hemiplegia/hemiparesis	215	ABCD1	ORPHA:139396
HP:0004374	Hemiplegia/hemiparesis	9692	PRORP	OMIM:619737
HP:0004374	Hemiplegia/hemiparesis	340665	CYP26C1	ORPHA:398189
HP:0004374	Hemiplegia/hemiparesis	55107	ANO1	OMIM:620687
HP:0004374	Hemiplegia/hemiparesis	3431	SP110	ORPHA:79124
HP:0004374	Hemiplegia/hemiparesis	3119	HLA-DQB1	OMIM:123400
HP:0004374	Hemiplegia/hemiparesis	5621	PRNP	OMIM:123400
HP:0004374	Hemiplegia/hemiparesis	3265	HRAS	ORPHA:2874
HP:0004374	Hemiplegia/hemiparesis	773	CACNA1A	ORPHA:569
HP:0004374	Hemiplegia/hemiparesis	773	CACNA1A	OMIM:141500
HP:0004374	Hemiplegia/hemiparesis	112476	PRRT2	ORPHA:569
HP:0004374	Hemiplegia/hemiparesis	6323	SCN1A	ORPHA:569
HP:0004374	Hemiplegia/hemiparesis	6323	SCN1A	OMIM:609634
HP:0004374	Hemiplegia/hemiparesis	477	ATP1A2	ORPHA:569
HP:0004374	Hemiplegia/hemiparesis	477	ATP1A2	OMIM:602481
HP:0004374	Hemiplegia/hemiparesis	7276	TTR	OMIM:105210
HP:0004374	Hemiplegia/hemiparesis	7248	TSC1	OMIM:607341
HP:0004374	Hemiplegia/hemiparesis	7249	TSC2	OMIM:607341
HP:0004374	Hemiplegia/hemiparesis	2632	GBE1	ORPHA:206583
HP:0004374	Hemiplegia/hemiparesis	6899	TBX1	OMIM:188400
HP:0004374	Hemiplegia/hemiparesis	7098	TLR3	OMIM:613002
HP:0004374	Hemiplegia/hemiparesis	8398	PLA2G6	OMIM:612953
HP:0004374	Hemiplegia/hemiparesis	78987	CRELD1	OMIM:620771
HP:0004374	Hemiplegia/hemiparesis	10878	CFHR3	OMIM:235400
HP:0004374	Hemiplegia/hemiparesis	3075	CFH	OMIM:235400
HP:0004374	Hemiplegia/hemiparesis	3078	CFHR1	OMIM:235400
HP:0004374	Hemiplegia/hemiparesis	55901	THSD1	ORPHA:231160
HP:0004374	Hemiplegia/hemiparesis	7049	TGFBR3	ORPHA:231160
HP:0004374	Hemiplegia/hemiparesis	1281	COL3A1	ORPHA:231160
HP:0004374	Hemiplegia/hemiparesis	83854	ANGPTL6	ORPHA:231160
HP:0004374	Hemiplegia/hemiparesis	2022	ENG	ORPHA:231160
HP:0004374	Hemiplegia/hemiparesis	149233	IL23R	ORPHA:117
HP:0004374	Hemiplegia/hemiparesis	6775	STAT4	ORPHA:117
HP:0004374	Hemiplegia/hemiparesis	3586	IL10	ORPHA:117
HP:0004374	Hemiplegia/hemiparesis	4210	MEFV	ORPHA:117
HP:0004374	Hemiplegia/hemiparesis	1230	CCR1	ORPHA:117
HP:0004374	Hemiplegia/hemiparesis	355	FAS	ORPHA:117
HP:0004374	Hemiplegia/hemiparesis	3592	IL12A	ORPHA:117
HP:0004374	Hemiplegia/hemiparesis	101928376	IL12A-AS1	ORPHA:117
HP:0004374	Hemiplegia/hemiparesis	3106	HLA-B	ORPHA:117
HP:0004374	Hemiplegia/hemiparesis	7099	TLR4	ORPHA:117
HP:0004374	Hemiplegia/hemiparesis	3459	IFNGR1	ORPHA:117
HP:0004374	Hemiplegia/hemiparesis	720	C4A	ORPHA:117
HP:0004374	Hemiplegia/hemiparesis	337867	UBAC2	ORPHA:117
HP:0004374	Hemiplegia/hemiparesis	51752	ERAP1	ORPHA:117
HP:0004374	Hemiplegia/hemiparesis	8302	KLRC4	ORPHA:117
HP:0004374	Hemiplegia/hemiparesis	158	ADSL	OMIM:103050
HP:0004374	Hemiplegia/hemiparesis	727676	SNORD118	OMIM:614561
HP:0004374	Hemiplegia/hemiparesis	1284	COL4A2	OMIM:614483
HP:0004374	Hemiplegia/hemiparesis	2517	FUCA1	OMIM:230000
HP:0004374	Hemiplegia/hemiparesis	6331	SCN5A	ORPHA:1344
HP:0004374	Hemiplegia/hemiparesis	4878	NPPA	ORPHA:1344
HP:0004374	Hemiplegia/hemiparesis	6696	SPP1	ORPHA:93552
HP:0004374	Hemiplegia/hemiparesis	6303	SAT1	ORPHA:93552
HP:0004374	Hemiplegia/hemiparesis	3654	IRAK1	ORPHA:93552
HP:0004374	Hemiplegia/hemiparesis	1493	CTLA4	ORPHA:900
HP:0004374	Hemiplegia/hemiparesis	26191	PTPN22	ORPHA:900
HP:0004374	Hemiplegia/hemiparesis	3115	HLA-DPB1	ORPHA:900
HP:0004374	Hemiplegia/hemiparesis	5657	PRTN3	ORPHA:900
HP:0004374	Hemiplegia/hemiparesis	3113	HLA-DPA1	ORPHA:900
HP:0004374	Hemiplegia/hemiparesis	6821	SUOX	OMIM:272300
HP:0004374	Hemiplegia/hemiparesis	5551	PRF1	OMIM:603553
HP:0004374	Hemiplegia/hemiparesis	81704	DOCK8	OMIM:243700
HP:0004374	Hemiplegia/hemiparesis	2581	GALC	ORPHA:206443
HP:0004374	Hemiplegia/hemiparesis	2581	GALC	ORPHA:206448
HP:0004374	Hemiplegia/hemiparesis	170302	ARX	ORPHA:3175
HP:0004374	Hemiplegia/hemiparesis	80169	CTC1	OMIM:612199
HP:0004374	Hemiplegia/hemiparesis	2782	GNB1	OMIM:616973
HP:0004374	Hemiplegia/hemiparesis	5053	PAH	ORPHA:79254
HP:0004374	Hemiplegia/hemiparesis	1374	CPT1A	ORPHA:156
HP:0004374	Hemiplegia/hemiparesis	3251	HPRT1	ORPHA:510
HP:0004374	Hemiplegia/hemiparesis	4594	MMUT	ORPHA:289916
HP:0004374	Hemiplegia/hemiparesis	875	CBS	ORPHA:394
HP:0004374	Hemiplegia/hemiparesis	3769	KCNJ13	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	343035	RD3	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	145226	RDH12	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	1406	CRX	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	64802	NMNAT1	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	57096	RPGRIP1	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	80184	CEP290	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	10383	TUBB4B	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	9742	IFT140	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	85015	USP45	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	6121	RPE65	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	23418	CRB1	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	5130	PCYT1A	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	9657	IQCB1	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	392255	GDF6	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	392255	GDF6	ORPHA:2345
HP:0004374	Hemiplegia/hemiparesis	23746	AIPL1	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	3000	GUCY2D	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	9227	LRAT	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	55812	SPATA7	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	7287	TULP1	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	167691	LCA5	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	3614	IMPDH1	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	7157	TP53	ORPHA:2807
HP:0004374	Hemiplegia/hemiparesis	652	BMP4	ORPHA:828
HP:0004374	Hemiplegia/hemiparesis	5590	PRKCZ	ORPHA:1606
HP:0004374	Hemiplegia/hemiparesis	2563	GABRD	ORPHA:1606
HP:0004374	Hemiplegia/hemiparesis	23013	SPEN	ORPHA:1606
HP:0004374	Hemiplegia/hemiparesis	8510	MMP23B	ORPHA:1606
HP:0004374	Hemiplegia/hemiparesis	7798	LUZP1	ORPHA:1606
HP:0004374	Hemiplegia/hemiparesis	6497	SKI	ORPHA:1606
HP:0004374	Hemiplegia/hemiparesis	10630	PDPN	ORPHA:1606
HP:0004374	Hemiplegia/hemiparesis	3339	HSPG2	ORPHA:1606
HP:0004374	Hemiplegia/hemiparesis	10277	UBE4B	ORPHA:1606
HP:0004374	Hemiplegia/hemiparesis	8514	KCNAB2	ORPHA:1606
HP:0004374	Hemiplegia/hemiparesis	473	RERE	ORPHA:1606
HP:0004374	Hemiplegia/hemiparesis	63976	PRDM16	ORPHA:1606
HP:0004374	Hemiplegia/hemiparesis	54897	CASZ1	ORPHA:1606
HP:0004374	Hemiplegia/hemiparesis	1776	DNASE1L3	ORPHA:36412
HP:0004374	Hemiplegia/hemiparesis	148789	B3GALNT2	ORPHA:588
HP:0004374	Hemiplegia/hemiparesis	29925	GMPPB	ORPHA:588
HP:0004374	Hemiplegia/hemiparesis	79147	FKRP	ORPHA:588
HP:0004374	Hemiplegia/hemiparesis	9215	LARGE1	ORPHA:588
HP:0004374	Hemiplegia/hemiparesis	29954	POMT2	ORPHA:588
HP:0004374	Hemiplegia/hemiparesis	2218	FKTN	ORPHA:588
HP:0004374	Hemiplegia/hemiparesis	729920	CRPPA	ORPHA:588
HP:0004374	Hemiplegia/hemiparesis	55624	POMGNT1	ORPHA:588
HP:0004374	Hemiplegia/hemiparesis	10585	POMT1	ORPHA:588
HP:0004374	Hemiplegia/hemiparesis	8517	IKBKG	ORPHA:464
HP:0004374	Hemiplegia/hemiparesis	4072	EPCAM	ORPHA:144
HP:0004374	Hemiplegia/hemiparesis	4292	MLH1	ORPHA:144
HP:0004374	Hemiplegia/hemiparesis	5395	PMS2	ORPHA:144
HP:0004374	Hemiplegia/hemiparesis	7048	TGFBR2	ORPHA:144
HP:0004374	Hemiplegia/hemiparesis	3845	KRAS	ORPHA:144
HP:0004374	Hemiplegia/hemiparesis	5290	PIK3CA	ORPHA:144
HP:0004374	Hemiplegia/hemiparesis	2956	MSH6	ORPHA:144
HP:0004374	Hemiplegia/hemiparesis	5378	PMS1	ORPHA:144
HP:0004374	Hemiplegia/hemiparesis	4436	MSH2	ORPHA:144
HP:0004374	Hemiplegia/hemiparesis	64218	SEMA4A	ORPHA:440437
HP:0004374	Hemiplegia/hemiparesis	472	ATM	ORPHA:440437
HP:0004374	Hemiplegia/hemiparesis	5426	POLE	ORPHA:440437
HP:0004374	Hemiplegia/hemiparesis	675	BRCA2	ORPHA:440437
HP:0004374	Hemiplegia/hemiparesis	657	BMPR1A	ORPHA:440437
HP:0004374	Hemiplegia/hemiparesis	6224	RPS20	ORPHA:440437
HP:0004374	Hemiplegia/hemiparesis	4595	MUTYH	ORPHA:440437
HP:0004374	Hemiplegia/hemiparesis	5424	POLD1	ORPHA:440437
HP:0004374	Hemiplegia/hemiparesis	11200	CHEK2	ORPHA:440437
HP:0004374	Hemiplegia/hemiparesis	6598	SMARCB1	ORPHA:99966
HP:0004374	Hemiplegia/hemiparesis	5264	PHYH	ORPHA:773
HP:0004374	Hemiplegia/hemiparesis	5191	PEX7	ORPHA:773
HP:0004374	Hemiplegia/hemiparesis	4854	NOTCH3	ORPHA:2591
HP:0004374	Hemiplegia/hemiparesis	5159	PDGFRB	ORPHA:2591
HP:0004374	Hemiplegia/hemiparesis	7274	TTPA	ORPHA:96
HP:0004374	Hemiplegia/hemiparesis	54476	RNF216	ORPHA:1173
HP:0004374	Hemiplegia/hemiparesis	10908	PNPLA6	ORPHA:1173
HP:0004374	Hemiplegia/hemiparesis	4509	MT-ATP8	ORPHA:480
HP:0004374	Hemiplegia/hemiparesis	4567	MT-TL1	ORPHA:480
HP:0004374	Hemiplegia/hemiparesis	50484	RRM2B	ORPHA:480
HP:0004374	Hemiplegia/hemiparesis	3897	L1CAM	ORPHA:2182
HP:0004374	Hemiplegia/hemiparesis	3897	L1CAM	ORPHA:2466
HP:0004374	Hemiplegia/hemiparesis	9573	GDF3	ORPHA:2345
HP:0004374	Hemiplegia/hemiparesis	4222	MEOX1	ORPHA:2345
HP:0004374	Hemiplegia/hemiparesis	9990	SLC12A6	ORPHA:1496
HP:0004374	Hemiplegia/hemiparesis	79693	YRDC	ORPHA:2065
HP:0004374	Hemiplegia/hemiparesis	51002	TPRKB	ORPHA:2065
HP:0004374	Hemiplegia/hemiparesis	84942	WDR73	ORPHA:2065
HP:0004374	Hemiplegia/hemiparesis	55644	OSGEP	ORPHA:2065
HP:0004374	Hemiplegia/hemiparesis	57122	NUP107	ORPHA:2065
HP:0004374	Hemiplegia/hemiparesis	10785	WDR4	ORPHA:2065
HP:0004374	Hemiplegia/hemiparesis	55746	NUP133	ORPHA:2065
HP:0004374	Hemiplegia/hemiparesis	84520	GON7	ORPHA:2065
HP:0004374	Hemiplegia/hemiparesis	112858	TP53RK	ORPHA:2065
HP:0004374	Hemiplegia/hemiparesis	8270	LAGE3	ORPHA:2065
HP:0004374	Hemiplegia/hemiparesis	10535	RNASEH2A	ORPHA:51
HP:0004374	Hemiplegia/hemiparesis	84153	RNASEH2C	ORPHA:51
HP:0004374	Hemiplegia/hemiparesis	25939	SAMHD1	ORPHA:51
HP:0004374	Hemiplegia/hemiparesis	79621	RNASEH2B	ORPHA:51
HP:0004374	Hemiplegia/hemiparesis	103	ADAR	ORPHA:51
HP:0004374	Hemiplegia/hemiparesis	11277	TREX1	ORPHA:51
HP:0004374	Hemiplegia/hemiparesis	100147744	RNU7-1	ORPHA:51
HP:0004374	Hemiplegia/hemiparesis	134353	LSM11	ORPHA:51
HP:0004374	Hemiplegia/hemiparesis	64135	IFIH1	ORPHA:51
HP:0004374	Hemiplegia/hemiparesis	2260	FGFR1	ORPHA:3157
HP:0004374	Hemiplegia/hemiparesis	128674	PROKR2	ORPHA:3157
HP:0004374	Hemiplegia/hemiparesis	6657	SOX2	ORPHA:3157
HP:0004374	Hemiplegia/hemiparesis	6658	SOX3	ORPHA:3157
HP:0004374	Hemiplegia/hemiparesis	9915	ARNT2	ORPHA:3157
HP:0004374	Hemiplegia/hemiparesis	8820	HESX1	ORPHA:3157
HP:0004374	Hemiplegia/hemiparesis	5015	OTX2	ORPHA:3157
HP:0004374	Hemiplegia/hemiparesis	4668	NAGA	ORPHA:79279
HP:0004374	Hemiplegia/hemiparesis	5728	PTEN	ORPHA:137608
HP:0004374	Hemiplegia/hemiparesis	383	ARG1	ORPHA:90
HP:0004374	Hemiplegia/hemiparesis	79029	AFG2B	OMIM:619616
HP:0004374	Hemiplegia/hemiparesis	3155	HMGCL	ORPHA:20
HP:0004374	Hemiplegia/hemiparesis	27235	COQ2	OMIM:607426
HP:0004372	Reduced consciousness	1374	CPT1A	ORPHA:156
HP:0004372	Reduced consciousness	1374	CPT1A	OMIM:255120
HP:0004372	Reduced consciousness	4594	MMUT	ORPHA:289916
HP:0004372	Reduced consciousness	4594	MMUT	OMIM:251000
HP:0004372	Reduced consciousness	4594	MMUT	ORPHA:79312
HP:0004372	Reduced consciousness	3155	HMGCL	ORPHA:20
HP:0004372	Reduced consciousness	3155	HMGCL	OMIM:246450
HP:0004372	Reduced consciousness	229	ALDOB	OMIM:229600
HP:0004372	Reduced consciousness	229	ALDOB	ORPHA:469
HP:0004372	Reduced consciousness	51728	POLR3K	OMIM:619310
HP:0004372	Reduced consciousness	5009	OTC	OMIM:311250
HP:0004372	Reduced consciousness	5009	OTC	ORPHA:664
HP:0004372	Reduced consciousness	2653	GCSH	OMIM:620423
HP:0004372	Reduced consciousness	5551	PRF1	ORPHA:540
HP:0004372	Reduced consciousness	5551	PRF1	OMIM:603553
HP:0004372	Reduced consciousness	8676	STX11	ORPHA:540
HP:0004372	Reduced consciousness	201294	UNC13D	ORPHA:540
HP:0004372	Reduced consciousness	6813	STXBP2	ORPHA:540
HP:0004372	Reduced consciousness	3712	IVD	ORPHA:33
HP:0004372	Reduced consciousness	3712	IVD	OMIM:243500
HP:0004372	Reduced consciousness	4695	NDUFA2	OMIM:618235
HP:0004372	Reduced consciousness	351	APP	ORPHA:324713
HP:0004372	Reduced consciousness	351	APP	ORPHA:324703
HP:0004372	Reduced consciousness	549	AUH	ORPHA:67046
HP:0004372	Reduced consciousness	3141	HLCS	OMIM:253270
HP:0004372	Reduced consciousness	3141	HLCS	ORPHA:79242
HP:0004372	Reduced consciousness	8893	EIF2B5	OMIM:620315
HP:0004372	Reduced consciousness	6833	ABCC8	OMIM:240800
HP:0004372	Reduced consciousness	6833	ABCC8	ORPHA:99885
HP:0004372	Reduced consciousness	3767	KCNJ11	ORPHA:99885
HP:0004372	Reduced consciousness	6774	STAT3	ORPHA:99885
HP:0004372	Reduced consciousness	2645	GCK	ORPHA:99885
HP:0004372	Reduced consciousness	2645	GCK	ORPHA:79299
HP:0004372	Reduced consciousness	3651	PDX1	ORPHA:99885
HP:0004372	Reduced consciousness	3630	INS	ORPHA:99885
HP:0004372	Reduced consciousness	2710	GK	OMIM:307030
HP:0004372	Reduced consciousness	10166	SLC25A15	ORPHA:415
HP:0004372	Reduced consciousness	10166	SLC25A15	OMIM:238970
HP:0004372	Reduced consciousness	10165	SLC25A13	OMIM:603471
HP:0004372	Reduced consciousness	10165	SLC25A13	ORPHA:247585
HP:0004372	Reduced consciousness	34	ACADM	OMIM:201450
HP:0004372	Reduced consciousness	34	ACADM	ORPHA:42
HP:0004372	Reduced consciousness	64087	MCCC2	OMIM:210210
HP:0004372	Reduced consciousness	5428	POLG	ORPHA:726
HP:0004372	Reduced consciousness	773	CACNA1A	ORPHA:569
HP:0004372	Reduced consciousness	773	CACNA1A	OMIM:141500
HP:0004372	Reduced consciousness	112476	PRRT2	ORPHA:569
HP:0004372	Reduced consciousness	6323	SCN1A	ORPHA:569
HP:0004372	Reduced consciousness	477	ATP1A2	ORPHA:569
HP:0004372	Reduced consciousness	477	ATP1A2	OMIM:602481
HP:0004372	Reduced consciousness	5095	PCCA	OMIM:606054
HP:0004372	Reduced consciousness	5096	PCCB	OMIM:606054
HP:0004372	Reduced consciousness	9056	SLC7A7	OMIM:222700
HP:0004372	Reduced consciousness	9056	SLC7A7	ORPHA:470
HP:0004372	Reduced consciousness	3158	HMGCS2	OMIM:605911
HP:0004372	Reduced consciousness	3643	INSR	ORPHA:263458
HP:0004372	Reduced consciousness	3172	HNF4A	ORPHA:263455
HP:0004372	Reduced consciousness	5903	RANBP2	ORPHA:88619
HP:0004372	Reduced consciousness	5903	RANBP2	OMIM:608033
HP:0004372	Reduced consciousness	58472	SQOR	OMIM:619221
HP:0004372	Reduced consciousness	1376	CPT2	OMIM:614212
HP:0004372	Reduced consciousness	1376	CPT2	ORPHA:228308
HP:0004372	Reduced consciousness	56922	MCCC1	OMIM:210200
HP:0004372	Reduced consciousness	128989	TANGO2	OMIM:616878
HP:0004372	Reduced consciousness	5498	PPOX	ORPHA:79473
HP:0004372	Reduced consciousness	326625	MMAB	OMIM:251110
HP:0004372	Reduced consciousness	788	SLC25A20	ORPHA:159
HP:0004372	Reduced consciousness	788	SLC25A20	OMIM:212138
HP:0004372	Reduced consciousness	1499	CTNNB1	ORPHA:54595
HP:0004372	Reduced consciousness	673	BRAF	ORPHA:54595
HP:0004372	Reduced consciousness	4158	MC2R	OMIM:202200
HP:0004372	Reduced consciousness	593	BCKDHA	OMIM:248600
HP:0004372	Reduced consciousness	10068	IL18BP	OMIM:618549
HP:0004372	Reduced consciousness	54902	TTC19	OMIM:615157
HP:0004372	Reduced consciousness	435	ASL	OMIM:207900
HP:0004372	Reduced consciousness	90624	LYRM7	OMIM:615838
HP:0004372	Reduced consciousness	3032	HADHB	ORPHA:746
HP:0004372	Reduced consciousness	3030	HADHA	ORPHA:746
HP:0004372	Reduced consciousness	80704	SLC19A3	OMIM:607483
HP:0004372	Reduced consciousness	166785	MMAA	OMIM:251100
HP:0004372	Reduced consciousness	162417	NAGS	OMIM:237310
HP:0004372	Reduced consciousness	162417	NAGS	ORPHA:927
HP:0004372	Reduced consciousness	128240	NAXE	OMIM:617186
HP:0004372	Reduced consciousness	540	ATP7B	OMIM:277900
HP:0004372	Reduced consciousness	6663	SOX10	OMIM:609136
HP:0004372	Reduced consciousness	1027	CDKN1B	ORPHA:652
HP:0004372	Reduced consciousness	1026	CDKN1A	ORPHA:652
HP:0004372	Reduced consciousness	1030	CDKN2B	ORPHA:652
HP:0004372	Reduced consciousness	1031	CDKN2C	ORPHA:652
HP:0004372	Reduced consciousness	1537	CYC1	OMIM:615453
HP:0004372	Reduced consciousness	4724	NDUFS4	OMIM:252010
HP:0004372	Reduced consciousness	445	ASS1	OMIM:215700
HP:0004372	Reduced consciousness	1373	CPS1	OMIM:237300
HP:0004372	Reduced consciousness	8942	KYNU	ORPHA:79155
HP:0004372	Reduced consciousness	3145	HMBS	ORPHA:79276
HP:0004372	Reduced consciousness	10878	CFHR3	OMIM:235400
HP:0004372	Reduced consciousness	3075	CFH	OMIM:235400
HP:0004372	Reduced consciousness	3078	CFHR1	OMIM:235400
HP:0004372	Reduced consciousness	6584	SLC22A5	OMIM:212140
HP:0004372	Reduced consciousness	55605	KIF21A	ORPHA:994
HP:0004372	Reduced consciousness	4927	NUP88	ORPHA:994
HP:0004372	Reduced consciousness	7846	TUBA1A	ORPHA:994
HP:0004372	Reduced consciousness	4654	MYOD1	ORPHA:994
HP:0004372	Reduced consciousness	54551	MAGEL2	ORPHA:994
HP:0004372	Reduced consciousness	54551	MAGEL2	OMIM:176270
HP:0004372	Reduced consciousness	4593	MUSK	ORPHA:994
HP:0004372	Reduced consciousness	5913	RAPSN	ORPHA:994
HP:0004372	Reduced consciousness	6572	SLC18A3	ORPHA:994
HP:0004372	Reduced consciousness	285489	DOK7	ORPHA:994
HP:0004372	Reduced consciousness	3064	HTT	ORPHA:399
HP:0004372	Reduced consciousness	6515	SLC2A3	ORPHA:399
HP:0004372	Reduced consciousness	8314	BAP1	ORPHA:2495
HP:0004372	Reduced consciousness	4771	NF2	ORPHA:2495
HP:0004372	Reduced consciousness	5155	PDGFB	ORPHA:2495
HP:0004372	Reduced consciousness	84231	TRAF7	ORPHA:2495
HP:0004372	Reduced consciousness	6608	SMO	ORPHA:2495
HP:0004372	Reduced consciousness	207	AKT1	ORPHA:2495
HP:0004372	Reduced consciousness	5290	PIK3CA	ORPHA:2495
HP:0004372	Reduced consciousness	7015	TERT	ORPHA:2495
HP:0004372	Reduced consciousness	51684	SUFU	ORPHA:2495
HP:0004372	Reduced consciousness	6605	SMARCE1	ORPHA:2495
HP:0004372	Reduced consciousness	84334	COA8	ORPHA:436271
HP:0004372	Reduced consciousness	2705	GJB1	ORPHA:101075
HP:0004372	Reduced consciousness	100033413	SNORD116-1	OMIM:176270
HP:0004372	Reduced consciousness	8924	HERC2	OMIM:176270
HP:0004372	Reduced consciousness	23742	NPAP1	OMIM:176270
HP:0004372	Reduced consciousness	338433	SNORD115-1	OMIM:176270
HP:0004372	Reduced consciousness	7681	MKRN3	OMIM:176270
HP:0004372	Reduced consciousness	145624	PWAR1	OMIM:176270
HP:0004372	Reduced consciousness	3653	IPW	OMIM:176270
HP:0004372	Reduced consciousness	791114	PWRN1	OMIM:176270
HP:0004372	Reduced consciousness	3060	HCRT	OMIM:161400
HP:0004372	Reduced consciousness	3060	HCRT	ORPHA:83465
HP:0004372	Reduced consciousness	3060	HCRT	ORPHA:2073
HP:0004372	Reduced consciousness	5631	PRPS1	ORPHA:99014
HP:0004372	Reduced consciousness	3594	IL12RB1	ORPHA:186
HP:0004372	Reduced consciousness	23534	TNPO3	ORPHA:186
HP:0004372	Reduced consciousness	3592	IL12A	ORPHA:186
HP:0004372	Reduced consciousness	6689	SPIB	ORPHA:186
HP:0004372	Reduced consciousness	5450	POU2AF1	ORPHA:186
HP:0004372	Reduced consciousness	9966	TNFSF15	ORPHA:186
HP:0004372	Reduced consciousness	79258	MMEL1	ORPHA:186
HP:0004372	Reduced consciousness	3663	IRF5	ORPHA:186
HP:0004372	Reduced consciousness	3119	HLA-DQB1	ORPHA:83465
HP:0004372	Reduced consciousness	3119	HLA-DQB1	ORPHA:2073
HP:0004372	Reduced consciousness	22891	ZNF365	ORPHA:83465
HP:0004372	Reduced consciousness	22891	ZNF365	ORPHA:2073
HP:0004372	Reduced consciousness	3123	HLA-DRB1	ORPHA:83465
HP:0004372	Reduced consciousness	3123	HLA-DRB1	ORPHA:2073
HP:0004372	Reduced consciousness	57465	TBC1D24	ORPHA:352596
HP:0004372	Reduced consciousness	4552	MTRR	ORPHA:2169
HP:0004372	Reduced consciousness	1786	DNMT1	OMIM:614116
HP:0004372	Reduced consciousness	1786	DNMT1	OMIM:604121
HP:0004372	Reduced consciousness	1717	DHCR7	ORPHA:818
HP:0004372	Reduced consciousness	1760	DMPK	OMIM:160900
HP:0004372	Reduced consciousness	56652	TWNK	OMIM:271245
HP:0004372	Reduced consciousness	29954	POMT2	OMIM:236670
HP:0004372	Reduced consciousness	79147	FKRP	OMIM:236670
HP:0004372	Reduced consciousness	2218	FKTN	OMIM:236670
HP:0004372	Reduced consciousness	10585	POMT1	OMIM:236670
HP:0004372	Reduced consciousness	9215	LARGE1	OMIM:236670
HP:0004372	Reduced consciousness	5805	PTS	OMIM:261640
HP:0004372	Reduced consciousness	1512	CTSH	ORPHA:2073
HP:0004372	Reduced consciousness	5032	P2RY11	ORPHA:2073
HP:0004372	Reduced consciousness	4340	MOG	ORPHA:2073
HP:0004372	Reduced consciousness	4340	MOG	OMIM:614250
HP:0004372	Reduced consciousness	7292	TNFSF4	ORPHA:2073
HP:0004372	Reduced consciousness	55870	ASH1L	OMIM:617796
HP:0004372	Reduced consciousness	7555	CNBP	ORPHA:606
HP:0004372	Reduced consciousness	1807	DPYS	OMIM:222748
HP:0004372	Reduced consciousness	8260	NAA10	ORPHA:276432
HP:0004372	Reduced consciousness	1188	CLCNKB	ORPHA:358
HP:0004372	Reduced consciousness	6559	SLC12A3	ORPHA:358
HP:0004372	Reduced consciousness	56246	MRAP	ORPHA:361
HP:0004372	Reduced consciousness	6770	STAR	ORPHA:361
HP:0004372	Reduced consciousness	23530	NNT	ORPHA:361
HP:0004372	Reduced consciousness	23530	NNT	OMIM:614736
HP:0004372	Reduced consciousness	10587	TXNRD2	ORPHA:361
HP:0004372	Reduced consciousness	4791	NFKB2	ORPHA:293978
HP:0004372	Reduced consciousness	208	AKT2	ORPHA:293964
HP:0004372	Reduced consciousness	3033	HADH	OMIM:609975
HP:0004372	Reduced consciousness	2746	GLUD1	OMIM:606762
HP:0004372	Reduced consciousness	2110	ETFDH	OMIM:231680
HP:0004372	Reduced consciousness	2108	ETFA	OMIM:231680
HP:0004372	Reduced consciousness	2109	ETFB	OMIM:231680
HP:0004372	Reduced consciousness	4728	NDUFS8	OMIM:618222
HP:0004372	Reduced consciousness	64849	SLC13A3	OMIM:618384
HP:0004372	Reduced consciousness	4519	MT-CYB	ORPHA:137675
HP:0004372	Reduced consciousness	9326	ZNHIT3	ORPHA:2836
HP:0004372	Reduced consciousness	9361	LONP1	ORPHA:79243
HP:0004372	Reduced consciousness	5160	PDHA1	ORPHA:79243
HP:0004372	Reduced consciousness	6697	SPR	ORPHA:70594
HP:0004372	Reduced consciousness	4125	MAN2B1	ORPHA:309282
HP:0004372	Reduced consciousness	4125	MAN2B1	ORPHA:309288
HP:0004372	Reduced consciousness	6927	HNF1A	ORPHA:324575
HP:0004372	Reduced consciousness	7067	THRA	OMIM:614450
HP:0004372	Reduced consciousness	54872	PIGG	ORPHA:488635
HP:0004372	Reduced consciousness	2670	GFAP	OMIM:203450
HP:0004372	Reduced consciousness	7351	UCP2	ORPHA:276556
HP:0004372	Reduced consciousness	6329	SCN4A	ORPHA:98913
HP:0004372	Reduced consciousness	1134	CHRNA1	ORPHA:98913
HP:0004372	Reduced consciousness	4038	LRP4	ORPHA:98913
HP:0004372	Reduced consciousness	1305	COL13A1	ORPHA:98913
HP:0004372	Reduced consciousness	1140	CHRNB1	ORPHA:98913
HP:0004372	Reduced consciousness	1144	CHRND	ORPHA:98913
HP:0004372	Reduced consciousness	1145	CHRNE	ORPHA:98913
HP:0004372	Reduced consciousness	375790	AGRN	ORPHA:98913
HP:0004372	Reduced consciousness	221264	AK9	ORPHA:98913
HP:0004372	Reduced consciousness	9898	UBAP2L	OMIM:620494
HP:0004372	Reduced consciousness	38	ACAT1	ORPHA:134
HP:0004372	Reduced consciousness	4558	MT-TF	ORPHA:550
HP:0004372	Reduced consciousness	4572	MT-TQ	ORPHA:550
HP:0004372	Reduced consciousness	4512	MT-CO1	ORPHA:550
HP:0004372	Reduced consciousness	4513	MT-CO2	ORPHA:550
HP:0004372	Reduced consciousness	4514	MT-CO3	ORPHA:550
HP:0004372	Reduced consciousness	4578	MT-TW	ORPHA:550
HP:0004372	Reduced consciousness	4540	MT-ND5	ORPHA:550
HP:0004372	Reduced consciousness	4541	MT-ND6	ORPHA:550
HP:0004372	Reduced consciousness	4535	MT-ND1	ORPHA:550
HP:0004372	Reduced consciousness	4538	MT-ND4	ORPHA:550
HP:0004372	Reduced consciousness	4567	MT-TL1	ORPHA:550
HP:0004372	Reduced consciousness	4574	MT-TS1	ORPHA:550
HP:0004372	Reduced consciousness	4575	MT-TS2	ORPHA:550
HP:0004372	Reduced consciousness	4564	MT-TH	ORPHA:550
HP:0004372	Reduced consciousness	2767	GNA11	ORPHA:428
HP:0004372	Reduced consciousness	846	CASR	ORPHA:428
HP:0004372	Reduced consciousness	6775	STAT4	ORPHA:93552
HP:0004372	Reduced consciousness	6696	SPP1	ORPHA:93552
HP:0004372	Reduced consciousness	6303	SAT1	ORPHA:93552
HP:0004372	Reduced consciousness	3654	IRAK1	ORPHA:93552
HP:0004372	Reduced consciousness	3593	IL12B	ORPHA:3287
HP:0004372	Reduced consciousness	3106	HLA-B	ORPHA:3287
HP:0004372	Reduced consciousness	6945	MLX	ORPHA:3287
HP:0004372	Reduced consciousness	4221	MEN1	ORPHA:97279
HP:0004372	Reduced consciousness	7528	YY1	ORPHA:97279
HP:0004372	Reduced consciousness	2203	FBP1	ORPHA:348
HP:0004372	Reduced consciousness	4615	MYD88	ORPHA:33226
HP:0004372	Reduced consciousness	1281	COL3A1	ORPHA:286
HP:0004372	Reduced consciousness	478	ATP1A3	OMIM:601338
HP:0004372	Reduced consciousness	6598	SMARCB1	ORPHA:99966
HP:0004372	Reduced consciousness	7187	TRAF3	ORPHA:1930
HP:0004372	Reduced consciousness	81622	UNC93B1	ORPHA:1930
HP:0004372	Reduced consciousness	148022	TICAM1	ORPHA:1930
HP:0004372	Reduced consciousness	7098	TLR3	ORPHA:1930
HP:0004372	Reduced consciousness	29110	TBK1	ORPHA:1930
HP:0004372	Reduced consciousness	210	ALAD	ORPHA:100924
HP:0004372	Reduced consciousness	6620	SNCB	OMIM:127750
HP:0004372	Reduced consciousness	2629	GBA1	OMIM:127750
HP:0004372	Reduced consciousness	6622	SNCA	OMIM:127750
HP:0004372	Reduced consciousness	2639	GCDH	ORPHA:25
HP:0004372	Reduced consciousness	4854	NOTCH3	ORPHA:136
HP:0004372	Reduced consciousness	100151683	RNU4ATAC	OMIM:210710
HP:0004372	Reduced consciousness	3753	KCNE1	ORPHA:90647
HP:0004372	Reduced consciousness	3784	KCNQ1	ORPHA:90647
HP:0004372	Reduced consciousness	132158	GLYCTK	ORPHA:941
HP:0004372	Reduced consciousness	51733	UPB1	OMIM:613161
HP:0004372	Reduced consciousness	135	ADORA2A	ORPHA:363549
HP:0004372	Reduced consciousness	4665	NAB2	ORPHA:2126
HP:0004372	Reduced consciousness	6778	STAT6	ORPHA:2126
HP:0004372	Reduced consciousness	100996717	NOTCH2NLC	OMIM:603472
HP:0004372	Reduced consciousness	9881	TRANK1	ORPHA:33543
HP:0004372	Reduced consciousness	410	ARSA	ORPHA:309271
HP:0004372	Reduced consciousness	410	ARSA	ORPHA:309263
HP:0004372	Reduced consciousness	410	ARSA	ORPHA:309256
HP:0004372	Reduced consciousness	5660	PSAP	ORPHA:309271
HP:0004372	Reduced consciousness	5660	PSAP	ORPHA:309263
HP:0004372	Reduced consciousness	5660	PSAP	ORPHA:309256
HP:0004372	Reduced consciousness	5660	PSAP	OMIM:611722
HP:0004372	Reduced consciousness	80856	LNPK	OMIM:618090
HP:0004372	Reduced consciousness	122961	ISCA2	OMIM:616370
HP:0004372	Reduced consciousness	79989	IFT56	OMIM:619534
HP:0004372	Reduced consciousness	215	ABCD1	ORPHA:139396
HP:0004372	Reduced consciousness	16	AARS1	OMIM:619661
HP:0004372	Reduced consciousness	5828	PEX2	OMIM:614866
HP:0004372	Reduced consciousness	55164	SHQ1	OMIM:619922
HP:0004372	Reduced consciousness	8398	PLA2G6	ORPHA:35069
HP:0004372	Reduced consciousness	378884	NHLRC1	ORPHA:501
HP:0004372	Reduced consciousness	7957	EPM2A	ORPHA:501
HP:0004372	Reduced consciousness	5354	PLP1	ORPHA:280229
HP:0004372	Reduced consciousness	5621	PRNP	ORPHA:282166
HP:0004372	Reduced consciousness	3074	HEXB	ORPHA:309162
HP:0004372	Reduced consciousness	2304	FOXE1	OMIM:241850
HP:0004372	Reduced consciousness	2304	FOXE1	ORPHA:95713
HP:0004372	Reduced consciousness	57479	PRR12	OMIM:619539
HP:0004372	Reduced consciousness	50506	DUOX2	ORPHA:226316
HP:0004372	Reduced consciousness	7080	NKX2-1	ORPHA:95713
HP:0004372	Reduced consciousness	7849	PAX8	ORPHA:95713
HP:0004372	Reduced consciousness	7849	PAX8	ORPHA:95712
HP:0004372	Reduced consciousness	1482	NKX2-5	ORPHA:95713
HP:0004372	Reduced consciousness	1482	NKX2-5	ORPHA:95712
HP:0004372	Reduced consciousness	7253	TSHR	ORPHA:95713
HP:0004372	Reduced consciousness	5172	SLC26A4	ORPHA:95713
HP:0004372	Reduced consciousness	391356	PTRHD1	OMIM:620747
HP:0004372	Reduced consciousness	51567	TDP2	OMIM:616949
HP:0004372	Reduced consciousness	83550	GPR101	ORPHA:963
HP:0004372	Reduced consciousness	9049	AIP	ORPHA:963
HP:0004371	Abnormality of glycosaminoglycan metabolism	138050	HGSNAT	OMIM:252930
HP:0004371	Abnormality of glycosaminoglycan metabolism	2799	GNS	OMIM:252940
HP:0004371	Abnormality of glycosaminoglycan metabolism	57192	MCOLN1	ORPHA:578
HP:0004371	Abnormality of glycosaminoglycan metabolism	57192	MCOLN1	OMIM:252650
HP:0004371	Abnormality of glycosaminoglycan metabolism	5286	PIK3C2A	ORPHA:557003
HP:0004370	Abnormality of temperature regulation	26191	PTPN22	ORPHA:397
HP:0004370	Abnormality of temperature regulation	26191	PTPN22	OMIM:180300
HP:0004370	Abnormality of temperature regulation	26191	PTPN22	ORPHA:536
HP:0004370	Abnormality of temperature regulation	26191	PTPN22	ORPHA:900
HP:0004370	Abnormality of temperature regulation	26191	PTPN22	ORPHA:3437
HP:0004370	Abnormality of temperature regulation	3106	HLA-B	ORPHA:397
HP:0004370	Abnormality of temperature regulation	3106	HLA-B	ORPHA:117
HP:0004370	Abnormality of temperature regulation	3106	HLA-B	ORPHA:29207
HP:0004370	Abnormality of temperature regulation	3106	HLA-B	ORPHA:3287
HP:0004370	Abnormality of temperature regulation	3106	HLA-B	ORPHA:36426
HP:0004370	Abnormality of temperature regulation	3123	HLA-DRB1	ORPHA:397
HP:0004370	Abnormality of temperature regulation	3123	HLA-DRB1	ORPHA:545
HP:0004370	Abnormality of temperature regulation	3123	HLA-DRB1	ORPHA:536
HP:0004370	Abnormality of temperature regulation	3123	HLA-DRB1	ORPHA:797
HP:0004370	Abnormality of temperature regulation	3123	HLA-DRB1	ORPHA:747
HP:0004370	Abnormality of temperature regulation	3123	HLA-DRB1	ORPHA:85414
HP:0004370	Abnormality of temperature regulation	3123	HLA-DRB1	OMIM:181000
HP:0004370	Abnormality of temperature regulation	8974	P4HA2	ORPHA:397
HP:0004370	Abnormality of temperature regulation	114548	NLRP3	OMIM:617772
HP:0004370	Abnormality of temperature regulation	114548	NLRP3	ORPHA:575
HP:0004370	Abnormality of temperature regulation	114548	NLRP3	OMIM:120100
HP:0004370	Abnormality of temperature regulation	114548	NLRP3	ORPHA:47045
HP:0004370	Abnormality of temperature regulation	114548	NLRP3	ORPHA:1451
HP:0004370	Abnormality of temperature regulation	27247	NFU1	OMIM:620938
HP:0004370	Abnormality of temperature regulation	8573	CASK	OMIM:300908
HP:0004370	Abnormality of temperature regulation	2539	G6PD	OMIM:300908
HP:0004370	Abnormality of temperature regulation	9881	TRANK1	ORPHA:33543
HP:0004370	Abnormality of temperature regulation	5314	PKHD1	ORPHA:53035
HP:0004370	Abnormality of temperature regulation	5604	MAP2K1	ORPHA:389
HP:0004370	Abnormality of temperature regulation	4893	NRAS	ORPHA:389
HP:0004370	Abnormality of temperature regulation	673	BRAF	ORPHA:389
HP:0004370	Abnormality of temperature regulation	4535	MT-ND1	ORPHA:255210
HP:0004370	Abnormality of temperature regulation	4535	MT-ND1	ORPHA:550
HP:0004370	Abnormality of temperature regulation	4536	MT-ND2	ORPHA:255210
HP:0004370	Abnormality of temperature regulation	4537	MT-ND3	ORPHA:255210
HP:0004370	Abnormality of temperature regulation	4538	MT-ND4	ORPHA:255210
HP:0004370	Abnormality of temperature regulation	4538	MT-ND4	ORPHA:550
HP:0004370	Abnormality of temperature regulation	4567	MT-TL1	ORPHA:255210
HP:0004370	Abnormality of temperature regulation	4567	MT-TL1	ORPHA:550
HP:0004370	Abnormality of temperature regulation	4578	MT-TW	ORPHA:255210
HP:0004370	Abnormality of temperature regulation	4578	MT-TW	ORPHA:550
HP:0004370	Abnormality of temperature regulation	4577	MT-TV	ORPHA:255210
HP:0004370	Abnormality of temperature regulation	4508	MT-ATP6	ORPHA:255210
HP:0004370	Abnormality of temperature regulation	4540	MT-ND5	ORPHA:255210
HP:0004370	Abnormality of temperature regulation	4540	MT-ND5	ORPHA:550
HP:0004370	Abnormality of temperature regulation	4541	MT-ND6	ORPHA:255210
HP:0004370	Abnormality of temperature regulation	4541	MT-ND6	ORPHA:550
HP:0004370	Abnormality of temperature regulation	4566	MT-TK	ORPHA:255210
HP:0004370	Abnormality of temperature regulation	249	ALPL	OMIM:241500
HP:0004370	Abnormality of temperature regulation	939	CD27	OMIM:615122
HP:0004370	Abnormality of temperature regulation	84936	ZFYVE19	OMIM:619849
HP:0004370	Abnormality of temperature regulation	6523	SLC5A1	ORPHA:35710
HP:0004370	Abnormality of temperature regulation	1991	ELANE	OMIM:162800
HP:0004370	Abnormality of temperature regulation	1991	ELANE	ORPHA:486
HP:0004370	Abnormality of temperature regulation	1536	CYBB	ORPHA:379
HP:0004370	Abnormality of temperature regulation	1536	CYBB	OMIM:306400
HP:0004370	Abnormality of temperature regulation	4688	NCF2	ORPHA:379
HP:0004370	Abnormality of temperature regulation	1535	CYBA	ORPHA:379
HP:0004370	Abnormality of temperature regulation	4689	NCF4	ORPHA:379
HP:0004370	Abnormality of temperature regulation	653361	NCF1	ORPHA:379
HP:0004370	Abnormality of temperature regulation	79415	CYBC1	ORPHA:379
HP:0004370	Abnormality of temperature regulation	79415	CYBC1	OMIM:618935
HP:0004370	Abnormality of temperature regulation	1896	EDA	OMIM:305100
HP:0004370	Abnormality of temperature regulation	6772	STAT1	OMIM:614162
HP:0004370	Abnormality of temperature regulation	2859	GPR35	ORPHA:171
HP:0004370	Abnormality of temperature regulation	10507	SEMA4D	ORPHA:171
HP:0004370	Abnormality of temperature regulation	4485	MST1	ORPHA:171
HP:0004370	Abnormality of temperature regulation	6925	TCF4	ORPHA:171
HP:0004370	Abnormality of temperature regulation	1777	DNASE2	OMIM:619858
HP:0004370	Abnormality of temperature regulation	5621	PRNP	OMIM:600072
HP:0004370	Abnormality of temperature regulation	5621	PRNP	ORPHA:466
HP:0004370	Abnormality of temperature regulation	2035	EPB41	ORPHA:288
HP:0004370	Abnormality of temperature regulation	2995	GYPC	ORPHA:288
HP:0004370	Abnormality of temperature regulation	6710	SPTB	ORPHA:288
HP:0004370	Abnormality of temperature regulation	6710	SPTB	ORPHA:822
HP:0004370	Abnormality of temperature regulation	6708	SPTA1	ORPHA:288
HP:0004370	Abnormality of temperature regulation	6708	SPTA1	ORPHA:822
HP:0004370	Abnormality of temperature regulation	1130	LYST	ORPHA:167
HP:0004370	Abnormality of temperature regulation	58484	NLRC4	OMIM:616115
HP:0004370	Abnormality of temperature regulation	58484	NLRC4	OMIM:616050
HP:0004370	Abnormality of temperature regulation	477	ATP1A2	OMIM:602481
HP:0004370	Abnormality of temperature regulation	1244	ABCC2	ORPHA:234
HP:0004370	Abnormality of temperature regulation	55768	NGLY1	OMIM:615273
HP:0004370	Abnormality of temperature regulation	51284	TLR7	OMIM:301080
HP:0004370	Abnormality of temperature regulation	51284	TLR7	ORPHA:536
HP:0004370	Abnormality of temperature regulation	4210	MEFV	ORPHA:342
HP:0004370	Abnormality of temperature regulation	4210	MEFV	ORPHA:117
HP:0004370	Abnormality of temperature regulation	5551	PRF1	OMIM:603553
HP:0004370	Abnormality of temperature regulation	5551	PRF1	ORPHA:540
HP:0004370	Abnormality of temperature regulation	8676	STX11	OMIM:603552
HP:0004370	Abnormality of temperature regulation	8676	STX11	ORPHA:540
HP:0004370	Abnormality of temperature regulation	554	AVPR2	ORPHA:223
HP:0004370	Abnormality of temperature regulation	359	AQP2	ORPHA:223
HP:0004370	Abnormality of temperature regulation	38	ACAT1	ORPHA:134
HP:0004370	Abnormality of temperature regulation	5373	PMM2	ORPHA:79318
HP:0004370	Abnormality of temperature regulation	811	CALR	ORPHA:131
HP:0004370	Abnormality of temperature regulation	811	CALR	ORPHA:824
HP:0004370	Abnormality of temperature regulation	811	CALR	OMIM:254450
HP:0004370	Abnormality of temperature regulation	3717	JAK2	ORPHA:131
HP:0004370	Abnormality of temperature regulation	3717	JAK2	ORPHA:824
HP:0004370	Abnormality of temperature regulation	3717	JAK2	OMIM:254450
HP:0004370	Abnormality of temperature regulation	2153	F5	ORPHA:131
HP:0004370	Abnormality of temperature regulation	2184	FAH	OMIM:276700
HP:0004370	Abnormality of temperature regulation	3586	IL10	OMIM:180300
HP:0004370	Abnormality of temperature regulation	3586	IL10	ORPHA:117
HP:0004370	Abnormality of temperature regulation	3586	IL10	ORPHA:536
HP:0004370	Abnormality of temperature regulation	6583	SLC22A4	OMIM:180300
HP:0004370	Abnormality of temperature regulation	4261	CIITA	OMIM:180300
HP:0004370	Abnormality of temperature regulation	51744	CD244	OMIM:180300
HP:0004370	Abnormality of temperature regulation	4795	NFKBIL1	OMIM:180300
HP:0004370	Abnormality of temperature regulation	64127	NOD2	ORPHA:90340
HP:0004370	Abnormality of temperature regulation	1967	EIF2B1	OMIM:603896
HP:0004370	Abnormality of temperature regulation	6728	SRP19	ORPHA:486
HP:0004370	Abnormality of temperature regulation	2672	GFI1	ORPHA:486
HP:0004370	Abnormality of temperature regulation	81570	CLPB	ORPHA:486
HP:0004370	Abnormality of temperature regulation	2000	ELF4	OMIM:301074
HP:0004370	Abnormality of temperature regulation	4615	MYD88	ORPHA:33226
HP:0004370	Abnormality of temperature regulation	204	AK2	ORPHA:33355
HP:0004370	Abnormality of temperature regulation	6929	TCF3	ORPHA:33110
HP:0004370	Abnormality of temperature regulation	7922	SLC39A7	ORPHA:33110
HP:0004370	Abnormality of temperature regulation	973	CD79A	ORPHA:33110
HP:0004370	Abnormality of temperature regulation	974	CD79B	ORPHA:33110
HP:0004370	Abnormality of temperature regulation	6688	SPI1	ORPHA:33110
HP:0004370	Abnormality of temperature regulation	3543	IGLL1	ORPHA:33110
HP:0004370	Abnormality of temperature regulation	3507	IGHM	ORPHA:33110
HP:0004370	Abnormality of temperature regulation	29760	BLNK	ORPHA:33110
HP:0004370	Abnormality of temperature regulation	5295	PIK3R1	ORPHA:33110
HP:0004370	Abnormality of temperature regulation	56262	LRRC8A	ORPHA:33110
HP:0004370	Abnormality of temperature regulation	149233	IL23R	ORPHA:117
HP:0004370	Abnormality of temperature regulation	6775	STAT4	ORPHA:117
HP:0004370	Abnormality of temperature regulation	6775	STAT4	ORPHA:536
HP:0004370	Abnormality of temperature regulation	6775	STAT4	ORPHA:93552
HP:0004370	Abnormality of temperature regulation	1230	CCR1	ORPHA:117
HP:0004370	Abnormality of temperature regulation	355	FAS	ORPHA:117
HP:0004370	Abnormality of temperature regulation	355	FAS	ORPHA:3437
HP:0004370	Abnormality of temperature regulation	3592	IL12A	ORPHA:117
HP:0004370	Abnormality of temperature regulation	101928376	IL12A-AS1	ORPHA:117
HP:0004370	Abnormality of temperature regulation	7099	TLR4	ORPHA:117
HP:0004370	Abnormality of temperature regulation	3459	IFNGR1	ORPHA:117
HP:0004370	Abnormality of temperature regulation	3459	IFNGR1	OMIM:209950
HP:0004370	Abnormality of temperature regulation	720	C4A	ORPHA:117
HP:0004370	Abnormality of temperature regulation	720	C4A	ORPHA:536
HP:0004370	Abnormality of temperature regulation	337867	UBAC2	ORPHA:117
HP:0004370	Abnormality of temperature regulation	51752	ERAP1	ORPHA:117
HP:0004370	Abnormality of temperature regulation	8302	KLRC4	ORPHA:117
HP:0004370	Abnormality of temperature regulation	7187	TRAF3	ORPHA:1930
HP:0004370	Abnormality of temperature regulation	81622	UNC93B1	ORPHA:1930
HP:0004370	Abnormality of temperature regulation	148022	TICAM1	ORPHA:1930
HP:0004370	Abnormality of temperature regulation	7098	TLR3	ORPHA:1930
HP:0004370	Abnormality of temperature regulation	29110	TBK1	ORPHA:1930
HP:0004370	Abnormality of temperature regulation	3155	HMGCL	ORPHA:20
HP:0004370	Abnormality of temperature regulation	3155	HMGCL	OMIM:246450
HP:0004370	Abnormality of temperature regulation	4558	MT-TF	ORPHA:550
HP:0004370	Abnormality of temperature regulation	4572	MT-TQ	ORPHA:550
HP:0004370	Abnormality of temperature regulation	4512	MT-CO1	ORPHA:550
HP:0004370	Abnormality of temperature regulation	4512	MT-CO1	ORPHA:99845
HP:0004370	Abnormality of temperature regulation	4513	MT-CO2	ORPHA:550
HP:0004370	Abnormality of temperature regulation	4514	MT-CO3	ORPHA:550
HP:0004370	Abnormality of temperature regulation	4514	MT-CO3	ORPHA:99845
HP:0004370	Abnormality of temperature regulation	4574	MT-TS1	ORPHA:550
HP:0004370	Abnormality of temperature regulation	4575	MT-TS2	ORPHA:550
HP:0004370	Abnormality of temperature regulation	4564	MT-TH	ORPHA:550
HP:0004370	Abnormality of temperature regulation	55388	MCM10	OMIM:619313
HP:0004370	Abnormality of temperature regulation	331	XIAP	OMIM:300635
HP:0004370	Abnormality of temperature regulation	3659	IRF1	OMIM:620668
HP:0004370	Abnormality of temperature regulation	3875	KRT18	OMIM:215600
HP:0004370	Abnormality of temperature regulation	9256	TSPOAP1	ORPHA:101150
HP:0004370	Abnormality of temperature regulation	7054	TH	ORPHA:101150
HP:0004370	Abnormality of temperature regulation	596	BCL2	ORPHA:545
HP:0004370	Abnormality of temperature regulation	3492	IGH	ORPHA:545
HP:0004370	Abnormality of temperature regulation	3492	IGH	ORPHA:52416
HP:0004370	Abnormality of temperature regulation	3492	IGH	ORPHA:52417
HP:0004370	Abnormality of temperature regulation	604	BCL6	ORPHA:545
HP:0004370	Abnormality of temperature regulation	779	CACNA1S	ORPHA:423
HP:0004370	Abnormality of temperature regulation	779	CACNA1S	OMIM:601887
HP:0004370	Abnormality of temperature regulation	6261	RYR1	ORPHA:423
HP:0004370	Abnormality of temperature regulation	7157	TP53	ORPHA:668
HP:0004370	Abnormality of temperature regulation	5925	RB1	ORPHA:668
HP:0004370	Abnormality of temperature regulation	11200	CHEK2	ORPHA:668
HP:0004370	Abnormality of temperature regulation	201294	UNC13D	ORPHA:540
HP:0004370	Abnormality of temperature regulation	201294	UNC13D	OMIM:608898
HP:0004370	Abnormality of temperature regulation	6813	STXBP2	ORPHA:540
HP:0004370	Abnormality of temperature regulation	6813	STXBP2	OMIM:613101
HP:0004370	Abnormality of temperature regulation	55315	SLC29A3	OMIM:602782
HP:0004370	Abnormality of temperature regulation	11277	TREX1	OMIM:225750
HP:0004370	Abnormality of temperature regulation	11277	TREX1	ORPHA:536
HP:0004370	Abnormality of temperature regulation	4695	NDUFA2	OMIM:618235
HP:0004370	Abnormality of temperature regulation	7248	TSC1	ORPHA:538
HP:0004370	Abnormality of temperature regulation	7249	TSC2	ORPHA:538
HP:0004370	Abnormality of temperature regulation	3930	LBR	ORPHA:779
HP:0004370	Abnormality of temperature regulation	5698	PSMB9	OMIM:620796
HP:0004370	Abnormality of temperature regulation	5978	REST	ORPHA:654
HP:0004370	Abnormality of temperature regulation	129563	DIS3L2	ORPHA:654
HP:0004370	Abnormality of temperature regulation	675	BRCA2	ORPHA:654
HP:0004370	Abnormality of temperature regulation	675	BRCA2	ORPHA:70567
HP:0004370	Abnormality of temperature regulation	9319	TRIP13	ORPHA:654
HP:0004370	Abnormality of temperature regulation	7490	WT1	ORPHA:654
HP:0004370	Abnormality of temperature regulation	7490	WT1	ORPHA:656
HP:0004370	Abnormality of temperature regulation	10155	TRIM28	ORPHA:654
HP:0004370	Abnormality of temperature regulation	11281	POU6F2	ORPHA:654
HP:0004370	Abnormality of temperature regulation	2719	GPC3	ORPHA:654
HP:0004370	Abnormality of temperature regulation	283120	H19	ORPHA:654
HP:0004370	Abnormality of temperature regulation	2215	FCGR3B	ORPHA:536
HP:0004370	Abnormality of temperature regulation	2215	FCGR3B	ORPHA:464370
HP:0004370	Abnormality of temperature regulation	3684	ITGAM	ORPHA:536
HP:0004370	Abnormality of temperature regulation	221895	JAZF1	ORPHA:536
HP:0004370	Abnormality of temperature regulation	7292	TNFSF4	ORPHA:536
HP:0004370	Abnormality of temperature regulation	640	BLK	ORPHA:536
HP:0004370	Abnormality of temperature regulation	55024	BANK1	ORPHA:536
HP:0004370	Abnormality of temperature regulation	3500	IGHG1	ORPHA:536
HP:0004370	Abnormality of temperature regulation	3654	IRAK1	ORPHA:536
HP:0004370	Abnormality of temperature regulation	3654	IRAK1	ORPHA:93552
HP:0004370	Abnormality of temperature regulation	1493	CTLA4	ORPHA:536
HP:0004370	Abnormality of temperature regulation	1493	CTLA4	ORPHA:900
HP:0004370	Abnormality of temperature regulation	1493	CTLA4	ORPHA:2584
HP:0004370	Abnormality of temperature regulation	1380	CR2	ORPHA:536
HP:0004370	Abnormality of temperature regulation	1380	CR2	OMIM:614699
HP:0004370	Abnormality of temperature regulation	5133	PDCD1	ORPHA:536
HP:0004370	Abnormality of temperature regulation	2113	ETS1	ORPHA:536
HP:0004370	Abnormality of temperature regulation	2213	FCGR2B	ORPHA:536
HP:0004370	Abnormality of temperature regulation	10318	TNIP1	ORPHA:536
HP:0004370	Abnormality of temperature regulation	7332	UBE2L3	ORPHA:536
HP:0004370	Abnormality of temperature regulation	79932	KIAA0319L	ORPHA:536
HP:0004370	Abnormality of temperature regulation	4204	MECP2	ORPHA:536
HP:0004370	Abnormality of temperature regulation	3663	IRF5	ORPHA:536
HP:0004370	Abnormality of temperature regulation	721	C4B	ORPHA:536
HP:0004370	Abnormality of temperature regulation	1773	DNASE1	ORPHA:536
HP:0004370	Abnormality of temperature regulation	6696	SPP1	ORPHA:536
HP:0004370	Abnormality of temperature regulation	6696	SPP1	ORPHA:93552
HP:0004370	Abnormality of temperature regulation	54899	PXK	ORPHA:536
HP:0004370	Abnormality of temperature regulation	7128	TNFAIP3	ORPHA:536
HP:0004370	Abnormality of temperature regulation	4868	NPHS1	ORPHA:656
HP:0004370	Abnormality of temperature regulation	23607	CD2AP	ORPHA:656
HP:0004370	Abnormality of temperature regulation	9688	NUP93	ORPHA:656
HP:0004370	Abnormality of temperature regulation	4643	MYO1E	ORPHA:656
HP:0004370	Abnormality of temperature regulation	64423	INF2	ORPHA:656
HP:0004370	Abnormality of temperature regulation	26130	GAPVD1	ORPHA:656
HP:0004370	Abnormality of temperature regulation	57122	NUP107	ORPHA:656
HP:0004370	Abnormality of temperature regulation	51479	ANKFY1	ORPHA:656
HP:0004370	Abnormality of temperature regulation	54443	ANLN	ORPHA:656
HP:0004370	Abnormality of temperature regulation	5800	PTPRO	ORPHA:656
HP:0004370	Abnormality of temperature regulation	286204	CRB2	ORPHA:656
HP:0004370	Abnormality of temperature regulation	23165	NUP205	ORPHA:656
HP:0004370	Abnormality of temperature regulation	2013	EMP2	ORPHA:656
HP:0004370	Abnormality of temperature regulation	79023	NUP37	ORPHA:656
HP:0004370	Abnormality of temperature regulation	51196	PLCE1	ORPHA:656
HP:0004370	Abnormality of temperature regulation	79902	NUP85	ORPHA:656
HP:0004370	Abnormality of temperature regulation	1285	COL4A3	ORPHA:656
HP:0004370	Abnormality of temperature regulation	396	ARHGDIA	ORPHA:656
HP:0004370	Abnormality of temperature regulation	79934	COQ8B	ORPHA:656
HP:0004370	Abnormality of temperature regulation	23279	NUP160	ORPHA:656
HP:0004370	Abnormality of temperature regulation	9863	MAGI2	ORPHA:656
HP:0004370	Abnormality of temperature regulation	81	ACTN4	ORPHA:656
HP:0004370	Abnormality of temperature regulation	7225	TRPC6	ORPHA:656
HP:0004370	Abnormality of temperature regulation	8542	APOL1	ORPHA:656
HP:0004370	Abnormality of temperature regulation	54885	TBC1D8B	ORPHA:656
HP:0004370	Abnormality of temperature regulation	7827	NPHS2	ORPHA:656
HP:0004370	Abnormality of temperature regulation	83478	ARHGAP24	ORPHA:656
HP:0004370	Abnormality of temperature regulation	23500	DAAM2	ORPHA:656
HP:0004370	Abnormality of temperature regulation	5076	PAX2	ORPHA:656
HP:0004370	Abnormality of temperature regulation	55746	NUP133	ORPHA:656
HP:0004370	Abnormality of temperature regulation	10588	MTHFS	OMIM:618367
HP:0004370	Abnormality of temperature regulation	3394	IRF8	OMIM:226990
HP:0004370	Abnormality of temperature regulation	3394	IRF8	OMIM:614893
HP:0004370	Abnormality of temperature regulation	3394	IRF8	ORPHA:319600
HP:0004370	Abnormality of temperature regulation	2717	GLA	ORPHA:324
HP:0004370	Abnormality of temperature regulation	6557	SLC12A1	OMIM:601678
HP:0004370	Abnormality of temperature regulation	5903	RANBP2	ORPHA:88619
HP:0004370	Abnormality of temperature regulation	56244	BTNL2	ORPHA:797
HP:0004370	Abnormality of temperature regulation	55975	KLHL7	OMIM:617055
HP:0004370	Abnormality of temperature regulation	6711	SPTBN1	OMIM:619475
HP:0004370	Abnormality of temperature regulation	6023	RMRP	ORPHA:39041
HP:0004370	Abnormality of temperature regulation	55636	CHD7	ORPHA:39041
HP:0004370	Abnormality of temperature regulation	3981	LIG4	ORPHA:39041
HP:0004370	Abnormality of temperature regulation	5896	RAG1	ORPHA:39041
HP:0004370	Abnormality of temperature regulation	5896	RAG1	ORPHA:331206
HP:0004370	Abnormality of temperature regulation	5897	RAG2	ORPHA:39041
HP:0004370	Abnormality of temperature regulation	5897	RAG2	ORPHA:331206
HP:0004370	Abnormality of temperature regulation	64421	DCLRE1C	ORPHA:39041
HP:0004370	Abnormality of temperature regulation	100	ADA	ORPHA:39041
HP:0004370	Abnormality of temperature regulation	3575	IL7R	ORPHA:39041
HP:0004370	Abnormality of temperature regulation	3575	IL7R	ORPHA:169154
HP:0004370	Abnormality of temperature regulation	3561	IL2RG	ORPHA:39041
HP:0004370	Abnormality of temperature regulation	84868	HAVCR2	OMIM:618398
HP:0004370	Abnormality of temperature regulation	84868	HAVCR2	ORPHA:86884
HP:0004370	Abnormality of temperature regulation	374879	ZNF699	OMIM:619488
HP:0004370	Abnormality of temperature regulation	60468	BACH2	OMIM:618394
HP:0004370	Abnormality of temperature regulation	50485	SMARCAL1	OMIM:242900
HP:0004370	Abnormality of temperature regulation	5573	PRKAR1A	ORPHA:615
HP:0004370	Abnormality of temperature regulation	5573	PRKAR1A	ORPHA:520
HP:0004370	Abnormality of temperature regulation	3988	LIPA	ORPHA:75233
HP:0004370	Abnormality of temperature regulation	3988	LIPA	OMIM:620151
HP:0004370	Abnormality of temperature regulation	3554	IL1R1	OMIM:259680
HP:0004370	Abnormality of temperature regulation	2203	FBP1	OMIM:229700
HP:0004370	Abnormality of temperature regulation	51371	POMP	OMIM:618048
HP:0004370	Abnormality of temperature regulation	2624	GATA2	ORPHA:228423
HP:0004370	Abnormality of temperature regulation	3593	IL12B	ORPHA:3287
HP:0004370	Abnormality of temperature regulation	6945	MLX	ORPHA:3287
HP:0004370	Abnormality of temperature regulation	613	BCR	ORPHA:521
HP:0004370	Abnormality of temperature regulation	25	ABL1	ORPHA:521
HP:0004370	Abnormality of temperature regulation	861	RUNX1	ORPHA:521
HP:0004370	Abnormality of temperature regulation	6774	STAT3	ORPHA:520
HP:0004370	Abnormality of temperature regulation	6774	STAT3	ORPHA:2314
HP:0004370	Abnormality of temperature regulation	5371	PML	ORPHA:520
HP:0004370	Abnormality of temperature regulation	5914	RARA	ORPHA:520
HP:0004370	Abnormality of temperature regulation	359948	IRF2BP2	ORPHA:520
HP:0004370	Abnormality of temperature regulation	81608	FIP1L1	ORPHA:520
HP:0004370	Abnormality of temperature regulation	4869	NPM1	ORPHA:520
HP:0004370	Abnormality of temperature regulation	54880	BCOR	ORPHA:520
HP:0004370	Abnormality of temperature regulation	64859	NABP1	ORPHA:520
HP:0004370	Abnormality of temperature regulation	6777	STAT5B	ORPHA:520
HP:0004370	Abnormality of temperature regulation	4926	NUMA1	ORPHA:520
HP:0004370	Abnormality of temperature regulation	7704	ZBTB16	ORPHA:520
HP:0004370	Abnormality of temperature regulation	79718	TBL1XR1	ORPHA:520
HP:0004370	Abnormality of temperature regulation	7388	UQCRH	OMIM:620137
HP:0004370	Abnormality of temperature regulation	4067	LYN	OMIM:620376
HP:0004370	Abnormality of temperature regulation	4613	MYCN	ORPHA:635
HP:0004370	Abnormality of temperature regulation	238	ALK	ORPHA:635
HP:0004370	Abnormality of temperature regulation	389421	LIN28B	ORPHA:635
HP:0004370	Abnormality of temperature regulation	4004	LMO1	ORPHA:635
HP:0004370	Abnormality of temperature regulation	57531	HACE1	ORPHA:635
HP:0004370	Abnormality of temperature regulation	144811	LACC1	ORPHA:85414
HP:0004370	Abnormality of temperature regulation	4282	MIF	ORPHA:85414
HP:0004370	Abnormality of temperature regulation	3569	IL6	ORPHA:85414
HP:0004370	Abnormality of temperature regulation	171023	ASXL1	ORPHA:98849
HP:0004370	Abnormality of temperature regulation	54790	TET2	ORPHA:98849
HP:0004370	Abnormality of temperature regulation	54790	TET2	ORPHA:824
HP:0004370	Abnormality of temperature regulation	3815	KIT	ORPHA:98849
HP:0004370	Abnormality of temperature regulation	6427	SRSF2	ORPHA:98849
HP:0004370	Abnormality of temperature regulation	4352	MPL	ORPHA:824
HP:0004370	Abnormality of temperature regulation	4352	MPL	OMIM:254450
HP:0004370	Abnormality of temperature regulation	2038	EPB42	ORPHA:822
HP:0004370	Abnormality of temperature regulation	6521	SLC4A1	ORPHA:822
HP:0004370	Abnormality of temperature regulation	286	ANK1	ORPHA:822
HP:0004370	Abnormality of temperature regulation	5699	PSMB10	OMIM:619175
HP:0004370	Abnormality of temperature regulation	23400	ATP13A2	ORPHA:306674
HP:0004370	Abnormality of temperature regulation	595	CCND1	ORPHA:52416
HP:0004370	Abnormality of temperature regulation	472	ATM	ORPHA:52416
HP:0004370	Abnormality of temperature regulation	330	BIRC3	ORPHA:52417
HP:0004370	Abnormality of temperature regulation	10892	MALT1	ORPHA:52417
HP:0004370	Abnormality of temperature regulation	27086	FOXP1	ORPHA:52417
HP:0004370	Abnormality of temperature regulation	8915	BCL10	ORPHA:52417
HP:0004370	Abnormality of temperature regulation	6340	SCNN1G	ORPHA:60033
HP:0004370	Abnormality of temperature regulation	1080	CFTR	ORPHA:60033
HP:0004370	Abnormality of temperature regulation	1080	CFTR	OMIM:167800
HP:0004370	Abnormality of temperature regulation	6337	SCNN1A	ORPHA:60033
HP:0004370	Abnormality of temperature regulation	6338	SCNN1B	ORPHA:60033
HP:0004370	Abnormality of temperature regulation	4519	MT-CYB	ORPHA:137675
HP:0004370	Abnormality of temperature regulation	7454	WAS	ORPHA:906
HP:0004370	Abnormality of temperature regulation	7456	WIPF1	ORPHA:906
HP:0004370	Abnormality of temperature regulation	3115	HLA-DPB1	ORPHA:900
HP:0004370	Abnormality of temperature regulation	5657	PRTN3	ORPHA:900
HP:0004370	Abnormality of temperature regulation	3113	HLA-DPA1	ORPHA:900
HP:0004370	Abnormality of temperature regulation	80704	SLC19A3	OMIM:607483
HP:0004370	Abnormality of temperature regulation	11330	CTRC	OMIM:167800
HP:0004370	Abnormality of temperature regulation	5645	PRSS2	OMIM:167800
HP:0004370	Abnormality of temperature regulation	5644	PRSS1	OMIM:167800
HP:0004370	Abnormality of temperature regulation	6690	SPINK1	OMIM:167800
HP:0004370	Abnormality of temperature regulation	23175	LPIN1	OMIM:268200
HP:0004370	Abnormality of temperature regulation	23175	LPIN1	ORPHA:99845
HP:0004370	Abnormality of temperature regulation	130340	AP1S3	ORPHA:247353
HP:0004370	Abnormality of temperature regulation	26525	IL36RN	ORPHA:247353
HP:0004370	Abnormality of temperature regulation	26525	IL36RN	OMIM:614204
HP:0004370	Abnormality of temperature regulation	4665	NAB2	ORPHA:2126
HP:0004370	Abnormality of temperature regulation	6778	STAT6	ORPHA:2126
HP:0004370	Abnormality of temperature regulation	64135	IFIH1	OMIM:615846
HP:0004370	Abnormality of temperature regulation	84033	OBSCN	ORPHA:99845
HP:0004370	Abnormality of temperature regulation	3662	IRF4	ORPHA:3452
HP:0004370	Abnormality of temperature regulation	11128	POLR3A	ORPHA:3455
HP:0004370	Abnormality of temperature regulation	695	BTK	ORPHA:47
HP:0004370	Abnormality of temperature regulation	226	ALDOA	ORPHA:57
HP:0004370	Abnormality of temperature regulation	10568	SLC34A2	ORPHA:60025
HP:0004370	Abnormality of temperature regulation	667	DST	OMIM:614653
HP:0004370	Abnormality of temperature regulation	940	CD28	ORPHA:2584
HP:0004370	Abnormality of temperature regulation	7133	TNFRSF1B	ORPHA:2584
HP:0004370	Abnormality of temperature regulation	10878	CFHR3	OMIM:235400
HP:0004370	Abnormality of temperature regulation	3075	CFH	OMIM:235400
HP:0004370	Abnormality of temperature regulation	3078	CFHR1	OMIM:235400
HP:0004370	Abnormality of temperature regulation	2068	ERCC2	ORPHA:910
HP:0004370	Abnormality of temperature regulation	7507	XPA	ORPHA:910
HP:0004370	Abnormality of temperature regulation	2071	ERCC3	ORPHA:910
HP:0004370	Abnormality of temperature regulation	7508	XPC	ORPHA:910
HP:0004370	Abnormality of temperature regulation	1643	DDB2	ORPHA:910
HP:0004370	Abnormality of temperature regulation	2073	ERCC5	ORPHA:910
HP:0004370	Abnormality of temperature regulation	3932	LCK	OMIM:615758
HP:0004370	Abnormality of temperature regulation	6303	SAT1	ORPHA:93552
HP:0004370	Abnormality of temperature regulation	23095	KIF1B	OMIM:256700
HP:0004370	Abnormality of temperature regulation	3350	HTR1A	OMIM:614674
HP:0004370	Abnormality of temperature regulation	672	BRCA1	ORPHA:70567
HP:0004370	Abnormality of temperature regulation	5774	PTPN3	ORPHA:70567
HP:0004370	Abnormality of temperature regulation	6098	ROS1	ORPHA:70567
HP:0004370	Abnormality of temperature regulation	11093	ADAMTS13	OMIM:274150
HP:0004370	Abnormality of temperature regulation	9663	LPIN2	ORPHA:77297
HP:0004370	Abnormality of temperature regulation	915	CD3D	ORPHA:169160
HP:0004370	Abnormality of temperature regulation	916	CD3E	ORPHA:169160
HP:0004370	Abnormality of temperature regulation	919	CD247	ORPHA:169160
HP:0004370	Abnormality of temperature regulation	10320	IKZF1	ORPHA:36426
HP:0004370	Abnormality of temperature regulation	3758	KCNJ1	OMIM:241200
HP:0004370	Abnormality of temperature regulation	1376	CPT2	OMIM:614212
HP:0004370	Abnormality of temperature regulation	1376	CPT2	OMIM:608836
HP:0004370	Abnormality of temperature regulation	5873	RAB27A	ORPHA:79477
HP:0004370	Abnormality of temperature regulation	5873	RAB27A	OMIM:607624
HP:0004370	Abnormality of temperature regulation	773	CACNA1A	OMIM:141500
HP:0004370	Abnormality of temperature regulation	1589	CYP21A2	OMIM:201910
HP:0004370	Abnormality of temperature regulation	5167	ENPP1	ORPHA:51608
HP:0004370	Abnormality of temperature regulation	368	ABCC6	ORPHA:51608
HP:0004370	Abnormality of temperature regulation	10019	SH2B3	OMIM:254450
HP:0004370	Abnormality of temperature regulation	2548	GAA	OMIM:232300
HP:0004370	Abnormality of temperature regulation	51135	IRAK4	ORPHA:70592
HP:0004370	Abnormality of temperature regulation	5788	PTPRC	OMIM:619924
HP:0004370	Abnormality of temperature regulation	51816	ADA2	OMIM:615688
HP:0004370	Abnormality of temperature regulation	1277	COL1A1	ORPHA:1310
HP:0004370	Abnormality of temperature regulation	1277	COL1A1	OMIM:114000
HP:0004370	Abnormality of temperature regulation	5294	PIK3CG	OMIM:619802
HP:0004370	Abnormality of temperature regulation	51081	MRPS7	OMIM:617872
HP:0004370	Abnormality of temperature regulation	551	AVP	ORPHA:30925
HP:0004370	Abnormality of temperature regulation	3458	IFNG	OMIM:618963
HP:0004370	Abnormality of temperature regulation	57410	SCYL1	ORPHA:466794
HP:0004370	Abnormality of temperature regulation	9451	EIF2AK3	ORPHA:1667
HP:0004370	Abnormality of temperature regulation	9051	PSTPIP1	ORPHA:69126
HP:0004370	Abnormality of temperature regulation	1371	CPOX	ORPHA:79273
HP:0004370	Abnormality of temperature regulation	3145	HMBS	ORPHA:79276
HP:0004370	Abnormality of temperature regulation	4982	TNFRSF11B	ORPHA:1416
HP:0004370	Abnormality of temperature regulation	56172	ANKH	ORPHA:1416
HP:0004370	Abnormality of temperature regulation	90268	OTULIN	OMIM:617099
HP:0004370	Abnormality of temperature regulation	8367	H4C5	OMIM:619950
HP:0004370	Abnormality of temperature regulation	85446	ZFHX2	OMIM:147430
HP:0004370	Abnormality of temperature regulation	4598	MVK	OMIM:260920
HP:0004370	Abnormality of temperature regulation	4598	MVK	ORPHA:343
HP:0004370	Abnormality of temperature regulation	100151683	RNU4ATAC	OMIM:210710
HP:0004370	Abnormality of temperature regulation	4803	NGF	OMIM:608654
HP:0004370	Abnormality of temperature regulation	7317	UBA1	OMIM:301054
HP:0004370	Abnormality of temperature regulation	57511	COG6	ORPHA:363523
HP:0004370	Abnormality of temperature regulation	9948	WDR1	OMIM:150550
HP:0004370	Abnormality of temperature regulation	22861	NLRP1	OMIM:617388
HP:0004370	Abnormality of temperature regulation	81858	SHARPIN	OMIM:620795
HP:0004370	Abnormality of temperature regulation	7132	TNFRSF1A	ORPHA:32960
HP:0004370	Abnormality of temperature regulation	7132	TNFRSF1A	OMIM:142680
HP:0004370	Abnormality of temperature regulation	868	CBLB	OMIM:620430
HP:0004370	Abnormality of temperature regulation	4068	SH2D1A	OMIM:308240
HP:0004370	Abnormality of temperature regulation	427	ASAH1	ORPHA:333
HP:0004370	Abnormality of temperature regulation	427	ASAH1	OMIM:228000
HP:0004370	Abnormality of temperature regulation	10134	BCAP31	ORPHA:369939
HP:0004370	Abnormality of temperature regulation	50619	DEF6	OMIM:619573
HP:0004370	Abnormality of temperature regulation	6573	SLC19A1	OMIM:620603
HP:0004370	Abnormality of temperature regulation	10616	RBCK1	OMIM:615895
HP:0004370	Abnormality of temperature regulation	6786	STIM1	OMIM:612783
HP:0004370	Abnormality of temperature regulation	6773	STAT2	OMIM:618886
HP:0004370	Abnormality of temperature regulation	340061	STING1	OMIM:615934
HP:0004370	Abnormality of temperature regulation	1585	CYP11B2	OMIM:203400
HP:0004370	Abnormality of temperature regulation	56984	PSMG2	OMIM:619183
HP:0004370	Abnormality of temperature regulation	254428	SLC41A1	OMIM:619468
HP:0004370	Abnormality of temperature regulation	91039	DPP9	OMIM:620331
HP:0004370	Abnormality of temperature regulation	80216	ALPK1	OMIM:614979
HP:0004370	Abnormality of temperature regulation	970	CD70	OMIM:618261
HP:0004370	Abnormality of temperature regulation	1053	CEBPE	OMIM:260570
HP:0004370	Abnormality of temperature regulation	3043	HBB	ORPHA:231214
HP:0004370	Abnormality of temperature regulation	3043	HBB	ORPHA:231226
HP:0004370	Abnormality of temperature regulation	3702	ITK	OMIM:613011
HP:0004370	Abnormality of temperature regulation	54914	FOCAD	OMIM:619991
HP:0004370	Abnormality of temperature regulation	5190	PEX6	OMIM:614863
HP:0004370	Abnormality of temperature regulation	5580	PRKCD	OMIM:615559
HP:0004370	Abnormality of temperature regulation	2643	GCH1	OMIM:233910
HP:0004370	Abnormality of temperature regulation	718	C3	OMIM:613779
HP:0004370	Abnormality of temperature regulation	6789	STK4	OMIM:614868
HP:0004370	Abnormality of temperature regulation	57169	ZNFX1	OMIM:619644
HP:0004370	Abnormality of temperature regulation	91662	NLRP12	OMIM:611762
HP:0004370	Abnormality of temperature regulation	55072	RNF31	OMIM:620632
HP:0004370	Abnormality of temperature regulation	5376	PMP22	ORPHA:98916
HP:0004370	Abnormality of temperature regulation	91949	COG7	ORPHA:79333
HP:0004370	Abnormality of temperature regulation	55343	SLC35C1	ORPHA:99843
HP:0004370	Abnormality of temperature regulation	5805	PTS	OMIM:261640
HP:0004370	Abnormality of temperature regulation	55739	NAXD	OMIM:618321
HP:0004370	Abnormality of temperature regulation	5966	REL	OMIM:619652
HP:0004370	Abnormality of temperature regulation	5692	PSMB4	OMIM:617591
HP:0004370	Abnormality of temperature regulation	200205	IBA57	OMIM:615330
HP:0004370	Abnormality of temperature regulation	8481	OFD1	OMIM:300804
HP:0004370	Abnormality of temperature regulation	506	ATP5F1B	OMIM:620085
HP:0004370	Abnormality of temperature regulation	6850	SYK	OMIM:619381
HP:0004370	Abnormality of temperature regulation	5860	QDPR	OMIM:261630
HP:0004370	Abnormality of temperature regulation	205327	C2orf69	OMIM:619423
HP:0004370	Abnormality of temperature regulation	8737	RIPK1	OMIM:618852
HP:0004370	Abnormality of temperature regulation	28985	MCTS1	OMIM:301115
HP:0004370	Abnormality of temperature regulation	341208	HEPHL1	OMIM:261990
HP:0004370	Abnormality of temperature regulation	1794	DOCK2	OMIM:616433
HP:0004370	Abnormality of temperature regulation	6559	SLC12A3	OMIM:263800
HP:0004370	Abnormality of temperature regulation	5696	PSMB8	OMIM:256040
HP:0004370	Abnormality of temperature regulation	165918	RNF168	ORPHA:420741
HP:0004370	Abnormality of temperature regulation	3909	LAMA3	ORPHA:79404
HP:0004370	Abnormality of temperature regulation	3918	LAMC2	ORPHA:79404
HP:0004370	Abnormality of temperature regulation	3914	LAMB3	ORPHA:79404
HP:0004370	Abnormality of temperature regulation	55858	TMEM165	OMIM:614727
HP:0004370	Abnormality of temperature regulation	10535	RNASEH2A	ORPHA:51
HP:0004370	Abnormality of temperature regulation	84153	RNASEH2C	ORPHA:51
HP:0004370	Abnormality of temperature regulation	25939	SAMHD1	ORPHA:51
HP:0004370	Abnormality of temperature regulation	79621	RNASEH2B	ORPHA:51
HP:0004370	Abnormality of temperature regulation	103	ADAR	ORPHA:51
HP:0004370	Abnormality of temperature regulation	100147744	RNU7-1	ORPHA:51
HP:0004370	Abnormality of temperature regulation	134353	LSM11	ORPHA:51
HP:0004370	Abnormality of temperature regulation	54675	CRLS1	OMIM:620167
HP:0004370	Abnormality of temperature regulation	7080	NKX2-1	ORPHA:209905
HP:0004370	Abnormality of temperature regulation	538	ATP7A	ORPHA:198
HP:0004370	Abnormality of temperature regulation	538	ATP7A	OMIM:309400
HP:0004370	Abnormality of temperature regulation	538	ATP7A	ORPHA:565
HP:0004370	Abnormality of temperature regulation	1621	DBH	ORPHA:230
HP:0004370	Abnormality of temperature regulation	5626	PROP1	ORPHA:226307
HP:0004370	Abnormality of temperature regulation	89884	LHX4	ORPHA:226307
HP:0004370	Abnormality of temperature regulation	8022	LHX3	ORPHA:226307
HP:0004370	Abnormality of temperature regulation	5449	POU1F1	ORPHA:226307
HP:0004370	Abnormality of temperature regulation	8820	HESX1	ORPHA:226307
HP:0004370	Abnormality of temperature regulation	162417	NAGS	OMIM:237310
HP:0004370	Abnormality of temperature regulation	5009	OTC	ORPHA:664
HP:0004370	Abnormality of temperature regulation	7849	PAX8	OMIM:218700
HP:0004370	Abnormality of temperature regulation	3712	IVD	ORPHA:33
HP:0004370	Abnormality of temperature regulation	7259	TSPYL1	OMIM:608800
HP:0004370	Abnormality of temperature regulation	7259	TSPYL1	ORPHA:168593
HP:0004370	Abnormality of temperature regulation	50506	DUOX2	ORPHA:226316
HP:0004370	Abnormality of temperature regulation	50506	DUOX2	ORPHA:95716
HP:0004370	Abnormality of temperature regulation	2555	GABRA2	OMIM:618557
HP:0004370	Abnormality of temperature regulation	7253	TSHR	ORPHA:90673
HP:0004370	Abnormality of temperature regulation	7252	TSHB	ORPHA:90674
HP:0004370	Abnormality of temperature regulation	775	CACNA1C	OMIM:601005
HP:0004370	Abnormality of temperature regulation	6335	SCN9A	ORPHA:90026
HP:0004370	Abnormality of temperature regulation	11280	SCN11A	ORPHA:90026
HP:0004370	Abnormality of temperature regulation	6336	SCN10A	ORPHA:90026
HP:0004370	Abnormality of temperature regulation	125988	MICOS13	OMIM:618329
HP:0004370	Abnormality of temperature regulation	388753	COA6	OMIM:616501
HP:0004370	Abnormality of temperature regulation	405753	DUOXA2	ORPHA:95716
HP:0004370	Abnormality of temperature regulation	6528	SLC5A5	ORPHA:95716
HP:0004370	Abnormality of temperature regulation	7038	TG	ORPHA:95716
HP:0004370	Abnormality of temperature regulation	7173	TPO	ORPHA:95716
HP:0004370	Abnormality of temperature regulation	389434	IYD	ORPHA:95716
HP:0004370	Abnormality of temperature regulation	25974	MMACHC	ORPHA:79282
HP:0004370	Abnormality of temperature regulation	36	ACADSB	OMIM:610006
HP:0004370	Abnormality of temperature regulation	1716	DGUOK	OMIM:251880
HP:0004370	Abnormality of temperature regulation	37	ACADVL	ORPHA:26793
HP:0004370	Abnormality of temperature regulation	8802	SUCLG1	OMIM:245400
HP:0004370	Abnormality of temperature regulation	8802	SUCLG1	ORPHA:17
HP:0004370	Abnormality of temperature regulation	4914	NTRK1	ORPHA:642
HP:0004370	Abnormality of temperature regulation	7386	UQCRFS1	OMIM:618775
HP:0004370	Abnormality of temperature regulation	57017	COQ9	OMIM:614654
HP:0004370	Abnormality of temperature regulation	55065	SLC52A1	OMIM:615026
HP:0004370	Abnormality of temperature regulation	221927	BRAT1	OMIM:614498
HP:0004370	Abnormality of temperature regulation	93627	TBCK	ORPHA:488632
HP:0004370	Abnormality of temperature regulation	78987	CRELD1	OMIM:620771
HP:0004370	Abnormality of temperature regulation	4001	LMNB1	ORPHA:99027
HP:0004370	Abnormality of temperature regulation	788	SLC25A20	ORPHA:159
HP:0004370	Abnormality of temperature regulation	7337	UBE3A	ORPHA:98794
HP:0004370	Abnormality of temperature regulation	7337	UBE3A	ORPHA:98795
HP:0004370	Abnormality of temperature regulation	7337	UBE3A	ORPHA:411511
HP:0004370	Abnormality of temperature regulation	4948	OCA2	ORPHA:98794
HP:0004370	Abnormality of temperature regulation	3939	LDHA	ORPHA:284426
HP:0004370	Abnormality of temperature regulation	9071	CLDN10	OMIM:617671
HP:0004370	Abnormality of temperature regulation	84876	ORAI1	OMIM:612782
HP:0004370	Abnormality of temperature regulation	81607	NECTIN4	OMIM:613573
HP:0004370	Abnormality of temperature regulation	85358	SHANK3	OMIM:606232
HP:0004370	Abnormality of temperature regulation	56983	POGLUT1	ORPHA:79145
HP:0004370	Abnormality of temperature regulation	3852	KRT5	ORPHA:79145
HP:0004370	Abnormality of temperature regulation	3852	KRT5	ORPHA:79400
HP:0004370	Abnormality of temperature regulation	23509	POFUT1	ORPHA:79145
HP:0004370	Abnormality of temperature regulation	55851	PSENEN	ORPHA:79145
HP:0004370	Abnormality of temperature regulation	3861	KRT14	ORPHA:79400
HP:0004370	Abnormality of temperature regulation	3861	KRT14	OMIM:161000
HP:0004370	Abnormality of temperature regulation	3861	KRT14	ORPHA:69087
HP:0004370	Abnormality of temperature regulation	3190	HNRNPK	ORPHA:352665
HP:0004370	Abnormality of temperature regulation	3190	HNRNPK	ORPHA:453504
HP:0004370	Abnormality of temperature regulation	9203	ZMYM3	OMIM:301111
HP:0004370	Abnormality of temperature regulation	128178	EDARADD	OMIM:129490
HP:0004370	Abnormality of temperature regulation	128178	EDARADD	OMIM:224900
HP:0004370	Abnormality of temperature regulation	10913	EDAR	OMIM:129490
HP:0004370	Abnormality of temperature regulation	10913	EDAR	OMIM:224900
HP:0004370	Abnormality of temperature regulation	3709	ITPR2	OMIM:106190
HP:0004370	Abnormality of temperature regulation	59344	ALOXE3	OMIM:606545
HP:0004370	Abnormality of temperature regulation	5605	MAP2K2	OMIM:615280
HP:0004370	Abnormality of temperature regulation	10660	LBX1	OMIM:619483
HP:0004370	Abnormality of temperature regulation	4792	NFKBIA	OMIM:612132
HP:0004370	Abnormality of temperature regulation	55361	PI4K2A	OMIM:620732
HP:0004370	Abnormality of temperature regulation	487	ATP2A1	OMIM:601003
HP:0004370	Abnormality of temperature regulation	9997	SCO2	OMIM:604377
HP:0004370	Abnormality of temperature regulation	4621	MYH3	ORPHA:2053
HP:0004370	Abnormality of temperature regulation	4621	MYH3	OMIM:193700
HP:0004370	Abnormality of temperature regulation	259232	NALCN	ORPHA:2053
HP:0004370	Abnormality of temperature regulation	8518	ELP1	ORPHA:1764
HP:0004370	Abnormality of temperature regulation	5236	PGM1	OMIM:614921
HP:0004370	Abnormality of temperature regulation	3339	HSPG2	OMIM:255800
HP:0004370	Abnormality of temperature regulation	3339	HSPG2	ORPHA:800
HP:0004370	Abnormality of temperature regulation	6331	SCN5A	OMIM:272120
HP:0004370	Abnormality of temperature regulation	246329	STAC3	ORPHA:168572
HP:0004370	Abnormality of temperature regulation	246329	STAC3	OMIM:255995
HP:0004370	Abnormality of temperature regulation	274	BIN1	ORPHA:169189
HP:0004370	Abnormality of temperature regulation	64419	MTMR14	ORPHA:169189
HP:0004370	Abnormality of temperature regulation	4618	MYF6	ORPHA:169189
HP:0004370	Abnormality of temperature regulation	1785	DNM2	ORPHA:169189
HP:0004370	Abnormality of temperature regulation	23529	CLCF1	ORPHA:1545
HP:0004370	Abnormality of temperature regulation	9244	CRLF1	ORPHA:1545
HP:0004370	Abnormality of temperature regulation	6329	SCN4A	ORPHA:682
HP:0004370	Abnormality of temperature regulation	83696	TRAPPC9	ORPHA:352530
HP:0004370	Abnormality of temperature regulation	1134	CHRNA1	OMIM:253290
HP:0004370	Abnormality of temperature regulation	1146	CHRNG	OMIM:253290
HP:0004370	Abnormality of temperature regulation	1144	CHRND	OMIM:253290
HP:0004370	Abnormality of temperature regulation	26154	ABCA12	ORPHA:457
HP:0004370	Abnormality of temperature regulation	7189	TRAF6	ORPHA:1810
HP:0004370	Abnormality of temperature regulation	126695	KDF1	ORPHA:1810
HP:0004370	Abnormality of temperature regulation	1185	CLCN6	OMIM:619173
HP:0004370	Abnormality of temperature regulation	403	ARL3	OMIM:618161
HP:0004370	Abnormality of temperature regulation	51360	MBTPS2	ORPHA:2273
HP:0004370	Abnormality of temperature regulation	8567	MADD	OMIM:619004
HP:0004370	Abnormality of temperature regulation	3977	LIFR	OMIM:601559
HP:0004370	Abnormality of temperature regulation	54681	P4HTM	OMIM:618493
HP:0004370	Abnormality of temperature regulation	8929	PHOX2B	OMIM:209880
HP:0004370	Abnormality of temperature regulation	84818	IL17RC	ORPHA:1334
HP:0004370	Abnormality of temperature regulation	64581	CLEC7A	ORPHA:1334
HP:0004370	Abnormality of temperature regulation	23765	IL17RA	ORPHA:1334
HP:0004370	Abnormality of temperature regulation	10758	TRAF3IP2	ORPHA:1334
HP:0004370	Abnormality of temperature regulation	112744	IL17F	ORPHA:1334
HP:0004370	Abnormality of temperature regulation	4287	ATXN3	ORPHA:276238
HP:0004370	Abnormality of temperature regulation	4287	ATXN3	ORPHA:276244
HP:0004370	Abnormality of temperature regulation	4287	ATXN3	ORPHA:276241
HP:0004370	Abnormality of temperature regulation	1161	ERCC8	ORPHA:90321
HP:0004370	Abnormality of temperature regulation	2072	ERCC4	ORPHA:90321
HP:0004370	Abnormality of temperature regulation	2074	ERCC6	ORPHA:90321
HP:0004370	Abnormality of temperature regulation	6926	TBX3	ORPHA:3138
HP:0004370	Abnormality of temperature regulation	10312	TCIRG1	ORPHA:667
HP:0004370	Abnormality of temperature regulation	1186	CLCN7	ORPHA:667
HP:0004370	Abnormality of temperature regulation	29887	SNX10	ORPHA:667
HP:0004370	Abnormality of temperature regulation	8600	TNFSF11	ORPHA:667
HP:0004370	Abnormality of temperature regulation	283446	MYO1H	OMIM:619482
HP:0004370	Abnormality of temperature regulation	440138	ALG11	ORPHA:280071
HP:0004370	Abnormality of temperature regulation	440138	ALG11	OMIM:613661
HP:0004370	Abnormality of temperature regulation	6571	SLC18A2	OMIM:618049
HP:0004370	Abnormality of temperature regulation	55823	VPS11	OMIM:616683
HP:0004370	Abnormality of temperature regulation	2260	FGFR1	ORPHA:220386
HP:0004370	Abnormality of temperature regulation	2260	FGFR1	ORPHA:93924
HP:0004370	Abnormality of temperature regulation	28514	DLL1	ORPHA:220386
HP:0004370	Abnormality of temperature regulation	28514	DLL1	ORPHA:93926
HP:0004370	Abnormality of temperature regulation	28514	DLL1	ORPHA:93924
HP:0004370	Abnormality of temperature regulation	28514	DLL1	ORPHA:93925
HP:0004370	Abnormality of temperature regulation	10735	STAG2	ORPHA:220386
HP:0004370	Abnormality of temperature regulation	10735	STAG2	ORPHA:93925
HP:0004370	Abnormality of temperature regulation	2253	FGF8	ORPHA:220386
HP:0004370	Abnormality of temperature regulation	2253	FGF8	ORPHA:93926
HP:0004370	Abnormality of temperature regulation	2253	FGF8	ORPHA:93924
HP:0004370	Abnormality of temperature regulation	2253	FGF8	ORPHA:93925
HP:0004370	Abnormality of temperature regulation	8243	SMC1A	ORPHA:220386
HP:0004370	Abnormality of temperature regulation	6496	SIX3	ORPHA:220386
HP:0004370	Abnormality of temperature regulation	6496	SIX3	ORPHA:93926
HP:0004370	Abnormality of temperature regulation	6496	SIX3	ORPHA:93924
HP:0004370	Abnormality of temperature regulation	6496	SIX3	ORPHA:93925
HP:0004370	Abnormality of temperature regulation	7050	TGIF1	ORPHA:220386
HP:0004370	Abnormality of temperature regulation	7050	TGIF1	ORPHA:93926
HP:0004370	Abnormality of temperature regulation	7050	TGIF1	ORPHA:93924
HP:0004370	Abnormality of temperature regulation	7050	TGIF1	ORPHA:93925
HP:0004370	Abnormality of temperature regulation	4838	NODAL	ORPHA:220386
HP:0004370	Abnormality of temperature regulation	4838	NODAL	ORPHA:93926
HP:0004370	Abnormality of temperature regulation	4838	NODAL	ORPHA:93924
HP:0004370	Abnormality of temperature regulation	4838	NODAL	ORPHA:93925
HP:0004370	Abnormality of temperature regulation	6469	SHH	ORPHA:220386
HP:0004370	Abnormality of temperature regulation	6469	SHH	ORPHA:93926
HP:0004370	Abnormality of temperature regulation	6469	SHH	ORPHA:93924
HP:0004370	Abnormality of temperature regulation	6469	SHH	ORPHA:93925
HP:0004370	Abnormality of temperature regulation	7546	ZIC2	ORPHA:220386
HP:0004370	Abnormality of temperature regulation	7546	ZIC2	ORPHA:93926
HP:0004370	Abnormality of temperature regulation	7546	ZIC2	ORPHA:93924
HP:0004370	Abnormality of temperature regulation	7546	ZIC2	ORPHA:93925
HP:0004370	Abnormality of temperature regulation	6491	STIL	ORPHA:220386
HP:0004370	Abnormality of temperature regulation	6491	STIL	ORPHA:93926
HP:0004370	Abnormality of temperature regulation	6491	STIL	ORPHA:93924
HP:0004370	Abnormality of temperature regulation	6491	STIL	ORPHA:93925
HP:0004370	Abnormality of temperature regulation	2619	GAS1	ORPHA:220386
HP:0004370	Abnormality of temperature regulation	2619	GAS1	ORPHA:93926
HP:0004370	Abnormality of temperature regulation	2619	GAS1	ORPHA:93924
HP:0004370	Abnormality of temperature regulation	2619	GAS1	ORPHA:93925
HP:0004370	Abnormality of temperature regulation	84976	DISP1	ORPHA:220386
HP:0004370	Abnormality of temperature regulation	84976	DISP1	ORPHA:93926
HP:0004370	Abnormality of temperature regulation	84976	DISP1	ORPHA:93924
HP:0004370	Abnormality of temperature regulation	84976	DISP1	ORPHA:93925
HP:0004370	Abnormality of temperature regulation	2736	GLI2	ORPHA:220386
HP:0004370	Abnormality of temperature regulation	2736	GLI2	ORPHA:93926
HP:0004370	Abnormality of temperature regulation	2736	GLI2	ORPHA:93924
HP:0004370	Abnormality of temperature regulation	2736	GLI2	ORPHA:93925
HP:0004370	Abnormality of temperature regulation	8928	FOXH1	ORPHA:220386
HP:0004370	Abnormality of temperature regulation	8928	FOXH1	ORPHA:93926
HP:0004370	Abnormality of temperature regulation	8928	FOXH1	ORPHA:93924
HP:0004370	Abnormality of temperature regulation	8928	FOXH1	ORPHA:93925
HP:0004370	Abnormality of temperature regulation	6997	CRIPTO	ORPHA:220386
HP:0004370	Abnormality of temperature regulation	6997	CRIPTO	ORPHA:93926
HP:0004370	Abnormality of temperature regulation	6997	CRIPTO	ORPHA:93924
HP:0004370	Abnormality of temperature regulation	6997	CRIPTO	ORPHA:93925
HP:0004370	Abnormality of temperature regulation	5727	PTCH1	ORPHA:220386
HP:0004370	Abnormality of temperature regulation	5727	PTCH1	ORPHA:93926
HP:0004370	Abnormality of temperature regulation	5727	PTCH1	ORPHA:93924
HP:0004370	Abnormality of temperature regulation	5727	PTCH1	ORPHA:93925
HP:0004370	Abnormality of temperature regulation	50937	CDON	ORPHA:220386
HP:0004370	Abnormality of temperature regulation	50937	CDON	ORPHA:93926
HP:0004370	Abnormality of temperature regulation	50937	CDON	ORPHA:93924
HP:0004370	Abnormality of temperature regulation	50937	CDON	ORPHA:93925
HP:0004370	Abnormality of temperature regulation	1317	SLC31A1	OMIM:620306
HP:0004370	Abnormality of temperature regulation	54551	MAGEL2	ORPHA:398069
HP:0004370	Abnormality of temperature regulation	54551	MAGEL2	OMIM:176270
HP:0004370	Abnormality of temperature regulation	55164	SHQ1	OMIM:619922
HP:0004370	Abnormality of temperature regulation	23007	PLCH1	ORPHA:93925
HP:0004370	Abnormality of temperature regulation	1644	DDC	OMIM:608643
HP:0004370	Abnormality of temperature regulation	2581	GALC	ORPHA:206436
HP:0004370	Abnormality of temperature regulation	5660	PSAP	ORPHA:206436
HP:0004370	Abnormality of temperature regulation	8398	PLA2G6	ORPHA:35069
HP:0004370	Abnormality of temperature regulation	60386	SLC25A19	ORPHA:99742
HP:0004370	Abnormality of temperature regulation	100033413	SNORD116-1	OMIM:176270
HP:0004370	Abnormality of temperature regulation	8924	HERC2	OMIM:176270
HP:0004370	Abnormality of temperature regulation	23742	NPAP1	OMIM:176270
HP:0004370	Abnormality of temperature regulation	338433	SNORD115-1	OMIM:176270
HP:0004370	Abnormality of temperature regulation	7681	MKRN3	OMIM:176270
HP:0004370	Abnormality of temperature regulation	145624	PWAR1	OMIM:176270
HP:0004370	Abnormality of temperature regulation	3653	IPW	OMIM:176270
HP:0004370	Abnormality of temperature regulation	791114	PWRN1	OMIM:176270
HP:0004370	Abnormality of temperature regulation	6697	SPR	ORPHA:70594
HP:0004370	Abnormality of temperature regulation	3560	IL2RB	ORPHA:85408
HP:0004370	Abnormality of temperature regulation	79722	ANKRD55	ORPHA:85408
HP:0004370	Abnormality of temperature regulation	3559	IL2RA	ORPHA:85408
HP:0004370	Abnormality of temperature regulation	5771	PTPN2	ORPHA:85408
HP:0004370	Abnormality of temperature regulation	51095	TRNT1	OMIM:616084
HP:0004370	Abnormality of temperature regulation	5777	PTPN6	ORPHA:3243
HP:0004370	Abnormality of temperature regulation	3570	IL6R	OMIM:618944
HP:0004370	Abnormality of temperature regulation	713	C1QB	OMIM:620321
HP:0004347	Weakness of muscles of respiration	210	ALAD	OMIM:612740
HP:0004347	Weakness of muscles of respiration	6329	SCN4A	ORPHA:681
HP:0004347	Weakness of muscles of respiration	779	CACNA1S	ORPHA:681
HP:0004347	Weakness of muscles of respiration	779	CACNA1S	ORPHA:79102
HP:0004347	Weakness of muscles of respiration	10008	KCNE3	ORPHA:681
HP:0004347	Weakness of muscles of respiration	5498	PPOX	ORPHA:79473
HP:0004347	Weakness of muscles of respiration	100134444	KCNJ18	ORPHA:79102
HP:0004347	Weakness of muscles of respiration	2556	GABRA3	ORPHA:79102
HP:0004347	Weakness of muscles of respiration	1371	CPOX	OMIM:121300
HP:0004347	Weakness of muscles of respiration	4359	MPZ	OMIM:618184
HP:0004347	Weakness of muscles of respiration	1145	CHRNE	OMIM:608931
HP:0004347	Weakness of muscles of respiration	1145	CHRNE	OMIM:605809
HP:0004347	Weakness of muscles of respiration	2673	GFPT1	OMIM:608931
HP:0004347	Weakness of muscles of respiration	1410	CRYAB	OMIM:608810
HP:0004347	Weakness of muscles of respiration	1410	CRYAB	ORPHA:399058
HP:0004347	Weakness of muscles of respiration	1291	COL6A1	OMIM:254090
HP:0004347	Weakness of muscles of respiration	1291	COL6A1	OMIM:158810
HP:0004347	Weakness of muscles of respiration	4574	MT-TS1	OMIM:220110
HP:0004347	Weakness of muscles of respiration	4574	MT-TS1	ORPHA:663
HP:0004347	Weakness of muscles of respiration	4570	MT-TN	OMIM:220110
HP:0004347	Weakness of muscles of respiration	4570	MT-TN	ORPHA:663
HP:0004347	Weakness of muscles of respiration	6834	SURF1	OMIM:220110
HP:0004347	Weakness of muscles of respiration	56203	LMOD3	OMIM:616165
HP:0004347	Weakness of muscles of respiration	7167	TPI1	OMIM:615512
HP:0004347	Weakness of muscles of respiration	50484	RRM2B	ORPHA:329336
HP:0004347	Weakness of muscles of respiration	246243	RNASEH1	ORPHA:329336
HP:0004347	Weakness of muscles of respiration	9782	MATR3	OMIM:606070
HP:0004347	Weakness of muscles of respiration	9782	MATR3	ORPHA:600
HP:0004347	Weakness of muscles of respiration	2066	ERBB4	OMIM:615515
HP:0004347	Weakness of muscles of respiration	1756	DMD	OMIM:310200
HP:0004347	Weakness of muscles of respiration	84334	COA8	ORPHA:436271
HP:0004347	Weakness of muscles of respiration	5428	POLG	OMIM:258450
HP:0004347	Weakness of muscles of respiration	1134	CHRNA1	OMIM:608930
HP:0004347	Weakness of muscles of respiration	4703	NEB	OMIM:256030
HP:0004347	Weakness of muscles of respiration	4703	NEB	ORPHA:171439
HP:0004347	Weakness of muscles of respiration	274	BIN1	ORPHA:169189
HP:0004347	Weakness of muscles of respiration	274	BIN1	OMIM:255200
HP:0004347	Weakness of muscles of respiration	64419	MTMR14	ORPHA:169189
HP:0004347	Weakness of muscles of respiration	4618	MYF6	ORPHA:169189
HP:0004347	Weakness of muscles of respiration	1785	DNM2	ORPHA:169189
HP:0004347	Weakness of muscles of respiration	6261	RYR1	ORPHA:169189
HP:0004347	Weakness of muscles of respiration	6261	RYR1	ORPHA:424107
HP:0004347	Weakness of muscles of respiration	6261	RYR1	ORPHA:597
HP:0004347	Weakness of muscles of respiration	4568	MT-TL2	ORPHA:663
HP:0004347	Weakness of muscles of respiration	4567	MT-TL1	ORPHA:663
HP:0004347	Weakness of muscles of respiration	7273	TTN	ORPHA:178464
HP:0004347	Weakness of muscles of respiration	22880	MORC2	ORPHA:466768
HP:0004347	Weakness of muscles of respiration	84197	POMK	OMIM:615249
HP:0004347	Weakness of muscles of respiration	427	ASAH1	OMIM:159950
HP:0004347	Weakness of muscles of respiration	427	ASAH1	ORPHA:2590
HP:0004347	Weakness of muscles of respiration	7084	TK2	ORPHA:254875
HP:0004347	Weakness of muscles of respiration	7084	TK2	OMIM:609560
HP:0004347	Weakness of muscles of respiration	1272	CNTN1	OMIM:612540
HP:0004347	Weakness of muscles of respiration	84876	ORAI1	OMIM:612782
HP:0004347	Weakness of muscles of respiration	4358	MPV17	OMIM:256810
HP:0004347	Weakness of muscles of respiration	29967	LRP12	OMIM:164310
HP:0004347	Weakness of muscles of respiration	29967	LRP12	ORPHA:98897
HP:0004347	Weakness of muscles of respiration	80208	SPG11	OMIM:602099
HP:0004347	Weakness of muscles of respiration	4151	MB	OMIM:620286
HP:0004347	Weakness of muscles of respiration	7317	UBA1	OMIM:301830
HP:0004347	Weakness of muscles of respiration	127833	SYT2	OMIM:619461
HP:0004347	Weakness of muscles of respiration	57449	PLEKHG5	OMIM:611067
HP:0004347	Weakness of muscles of respiration	4632	MYL1	OMIM:618414
HP:0004347	Weakness of muscles of respiration	353116	RILPL1	ORPHA:98897
HP:0004347	Weakness of muscles of respiration	10755	GIPC1	ORPHA:98897
HP:0004347	Weakness of muscles of respiration	100996717	NOTCH2NLC	ORPHA:98897
HP:0004347	Weakness of muscles of respiration	9997	SCO2	OMIM:604377
HP:0004347	Weakness of muscles of respiration	1103	CHAT	OMIM:254210
HP:0004347	Weakness of muscles of respiration	2548	GAA	OMIM:232300
HP:0004347	Weakness of muscles of respiration	2548	GAA	ORPHA:308552
HP:0004347	Weakness of muscles of respiration	2318	FLNC	ORPHA:63273
HP:0004347	Weakness of muscles of respiration	92667	MGME1	ORPHA:352447
HP:0004347	Weakness of muscles of respiration	9325	TRIP4	OMIM:617066
HP:0004347	Weakness of muscles of respiration	9325	TRIP4	ORPHA:486815
HP:0004347	Weakness of muscles of respiration	291	SLC25A4	OMIM:617184
HP:0004347	Weakness of muscles of respiration	1674	DES	OMIM:601419
HP:0004347	Weakness of muscles of respiration	1674	DES	ORPHA:98909
HP:0004347	Weakness of muscles of respiration	23287	AGTPBP1	OMIM:618276
HP:0004347	Weakness of muscles of respiration	2273	FHL1	OMIM:300718
HP:0004347	Weakness of muscles of respiration	2273	FHL1	OMIM:300717
HP:0004347	Weakness of muscles of respiration	2273	FHL1	ORPHA:98863
HP:0004347	Weakness of muscles of respiration	51244	CCDC174	OMIM:616816
HP:0004347	Weakness of muscles of respiration	8292	COLQ	OMIM:603034
HP:0004347	Weakness of muscles of respiration	51	ACOX1	OMIM:618960
HP:0004347	Weakness of muscles of respiration	2733	GLE1	OMIM:611890
HP:0004347	Weakness of muscles of respiration	23435	TARDBP	OMIM:612069
HP:0004347	Weakness of muscles of respiration	84665	MYPN	ORPHA:171439
HP:0004347	Weakness of muscles of respiration	390594	KBTBD13	ORPHA:171439
HP:0004347	Weakness of muscles of respiration	10324	KLHL41	ORPHA:171439
HP:0004347	Weakness of muscles of respiration	55681	SCYL2	ORPHA:1143
HP:0004347	Weakness of muscles of respiration	84570	COL25A1	ORPHA:1143
HP:0004347	Weakness of muscles of respiration	57222	ERGIC1	ORPHA:1143
HP:0004347	Weakness of muscles of respiration	1073	CFL2	OMIM:610687
HP:0004347	Weakness of muscles of respiration	7138	TNNT1	ORPHA:98902
HP:0004347	Weakness of muscles of respiration	2010	EMD	ORPHA:98863
HP:0004347	Weakness of muscles of respiration	23299	BICD2	OMIM:618291
HP:0004347	Weakness of muscles of respiration	23676	SMPX	OMIM:301075
HP:0004347	Weakness of muscles of respiration	3908	LAMA2	OMIM:607855
HP:0004347	Weakness of muscles of respiration	9927	MFN2	OMIM:617087
HP:0004347	Weakness of muscles of respiration	8803	SUCLA2	OMIM:612073
HP:0004347	Weakness of muscles of respiration	51067	YARS2	OMIM:613561
HP:0004347	Weakness of muscles of respiration	9131	AIFM1	OMIM:300816
HP:0004347	Weakness of muscles of respiration	5081	PAX7	OMIM:618578
HP:0004347	Weakness of muscles of respiration	8291	DYSF	ORPHA:45448
HP:0004347	Weakness of muscles of respiration	4000	LMNA	OMIM:613205
HP:0004347	Weakness of muscles of respiration	4000	LMNA	ORPHA:98853
HP:0004347	Weakness of muscles of respiration	23534	TNPO3	OMIM:608423
HP:0004347	Weakness of muscles of respiration	3156	HMGCR	OMIM:620375
HP:0004347	Weakness of muscles of respiration	285489	DOK7	OMIM:254300
HP:0004347	Weakness of muscles of respiration	54808	DYM	ORPHA:239
HP:0004347	Weakness of muscles of respiration	79188	TMEM43	ORPHA:98853
HP:0004347	Weakness of muscles of respiration	23345	SYNE1	ORPHA:98853
HP:0004347	Weakness of muscles of respiration	23224	SYNE2	ORPHA:98853
HP:0004347	Weakness of muscles of respiration	57190	SELENON	ORPHA:2020
HP:0004347	Weakness of muscles of respiration	58	ACTA1	ORPHA:2020
HP:0004347	Weakness of muscles of respiration	4633	MYL2	ORPHA:2020
HP:0004347	Weakness of muscles of respiration	3679	ITGA7	ORPHA:2020
HP:0004347	Weakness of muscles of respiration	7169	TPM2	ORPHA:2020
HP:0004347	Weakness of muscles of respiration	9200	HACD1	ORPHA:2020
HP:0004347	Weakness of muscles of respiration	7170	TPM3	ORPHA:2020
HP:0004347	Weakness of muscles of respiration	51776	MAP3K20	ORPHA:2020
HP:0004347	Weakness of muscles of respiration	3145	HMBS	ORPHA:79276
HP:0004347	Weakness of muscles of respiration	3178	HNRNPA1	ORPHA:52430
HP:0004347	Weakness of muscles of respiration	7415	VCP	ORPHA:52430
HP:0004347	Weakness of muscles of respiration	3181	HNRNPA2B1	ORPHA:52430
HP:0004347	Weakness of muscles of respiration	4625	MYH7	ORPHA:324604
HP:0004347	Weakness of muscles of respiration	60482	SLC5A7	ORPHA:98914
HP:0004347	Weakness of muscles of respiration	4649	MYO9A	ORPHA:98914
HP:0004347	Weakness of muscles of respiration	1305	COL13A1	ORPHA:98914
HP:0004347	Weakness of muscles of respiration	6576	SLC25A1	ORPHA:98914
HP:0004347	Weakness of muscles of respiration	6843	VAMP1	ORPHA:98914
HP:0004347	Weakness of muscles of respiration	375790	AGRN	ORPHA:98914
HP:0004347	Weakness of muscles of respiration	6572	SLC18A3	ORPHA:98914
HP:0004347	Weakness of muscles of respiration	6616	SNAP25	ORPHA:98914
HP:0004347	Weakness of muscles of respiration	9499	MYOT	ORPHA:266
HP:0004347	Weakness of muscles of respiration	1303	COL12A1	ORPHA:610
HP:0004347	Weakness of muscles of respiration	1292	COL6A2	ORPHA:610
HP:0004347	Weakness of muscles of respiration	1293	COL6A3	ORPHA:610
HP:0004345	Ganglioside accumulation	3073	HEXA	OMIM:272800
HP:0004345	Ganglioside accumulation	2760	GM2A	OMIM:272750
HP:0004345	Ganglioside accumulation	57192	MCOLN1	ORPHA:578
HP:0004345	Ganglioside accumulation	57192	MCOLN1	OMIM:252650
HP:0004343	Abnormal glycosphingolipid metabolism	3073	HEXA	OMIM:272800
HP:0004343	Abnormal glycosphingolipid metabolism	2760	GM2A	OMIM:272750
HP:0004343	Abnormal glycosphingolipid metabolism	410	ARSA	ORPHA:309271
HP:0004343	Abnormal glycosphingolipid metabolism	410	ARSA	ORPHA:309263
HP:0004343	Abnormal glycosphingolipid metabolism	5660	PSAP	ORPHA:309271
HP:0004343	Abnormal glycosphingolipid metabolism	5660	PSAP	OMIM:611721
HP:0004343	Abnormal glycosphingolipid metabolism	5660	PSAP	ORPHA:309263
HP:0004343	Abnormal glycosphingolipid metabolism	3074	HEXB	OMIM:268800
HP:0004343	Abnormal glycosphingolipid metabolism	2717	GLA	ORPHA:324
HP:0004343	Abnormal glycosphingolipid metabolism	57192	MCOLN1	ORPHA:578
HP:0004343	Abnormal glycosphingolipid metabolism	57192	MCOLN1	OMIM:252650
HP:0004342	Abnormal galactosidase enyzme activity	2720	GLB1	OMIM:253010
HP:0004342	Abnormal galactosidase enyzme activity	2720	GLB1	OMIM:230650
HP:0004342	Abnormal galactosidase enyzme activity	2720	GLB1	OMIM:230500
HP:0004342	Abnormal galactosidase enyzme activity	2720	GLB1	OMIM:230600
HP:0004342	Abnormal galactosidase enyzme activity	2720	GLB1	ORPHA:79255
HP:0004342	Abnormal galactosidase enyzme activity	5476	CTSA	OMIM:256540
HP:0004342	Abnormal galactosidase enyzme activity	2582	GALE	OMIM:230350
HP:0004341	Abnormality of vitamin B12 metabolism	4552	MTRR	OMIM:236270
HP:0004341	Abnormality of vitamin B12 metabolism	197322	ACSF3	ORPHA:289504
HP:0004341	Abnormality of vitamin B12 metabolism	8802	SUCLG1	ORPHA:17
HP:0004341	Abnormality of vitamin B12 metabolism	8803	SUCLA2	OMIM:612073
HP:0004341	Abnormality of vitamin B12 metabolism	55788	LMBRD1	OMIM:277380
HP:0004341	Abnormality of vitamin B12 metabolism	25974	MMACHC	ORPHA:79282
HP:0004341	Abnormality of vitamin B12 metabolism	25974	MMACHC	OMIM:277400
HP:0004341	Abnormality of vitamin B12 metabolism	3054	HCFC1	OMIM:309541
HP:0004341	Abnormality of vitamin B12 metabolism	4329	ALDH6A1	OMIM:614105
HP:0004341	Abnormality of vitamin B12 metabolism	51293	CD320	OMIM:613646
HP:0004341	Abnormality of vitamin B12 metabolism	5826	ABCD4	OMIM:614857
HP:0004341	Abnormality of vitamin B12 metabolism	27249	MMADHC	OMIM:277410
HP:0004341	Abnormality of vitamin B12 metabolism	326625	MMAB	OMIM:251110
HP:0004341	Abnormality of vitamin B12 metabolism	4594	MMUT	OMIM:251000
HP:0004341	Abnormality of vitamin B12 metabolism	5052	PRDX1	OMIM:277400
HP:0004341	Abnormality of vitamin B12 metabolism	166785	MMAA	OMIM:251100
HP:0004341	Abnormality of vitamin B12 metabolism	4522	MTHFD1	OMIM:617780
HP:0004341	Abnormality of vitamin B12 metabolism	595	CCND1	ORPHA:29073
HP:0004341	Abnormality of vitamin B12 metabolism	355	FAS	ORPHA:3261
HP:0004341	Abnormality of vitamin B12 metabolism	356	FASLG	ORPHA:3261
HP:0004341	Abnormality of vitamin B12 metabolism	843	CASP10	ORPHA:3261
HP:0004341	Abnormality of vitamin B12 metabolism	6948	TCN2	OMIM:275350
HP:0004341	Abnormality of vitamin B12 metabolism	11342	RNF13	ORPHA:544503
HP:0004341	Abnormality of vitamin B12 metabolism	4548	MTR	OMIM:250940
HP:0004341	Abnormality of vitamin B12 metabolism	2917	GRM7	OMIM:618922
HP:0004341	Abnormality of vitamin B12 metabolism	6573	SLC19A1	OMIM:601775
HP:0004341	Abnormality of vitamin B12 metabolism	3117	HLA-DQA1	OMIM:212750
HP:0004341	Abnormality of vitamin B12 metabolism	3119	HLA-DQB1	OMIM:212750
HP:0004341	Abnormality of vitamin B12 metabolism	2984	GUCY2C	OMIM:614616
HP:0004341	Abnormality of vitamin B12 metabolism	215	ABCD1	ORPHA:139399
HP:0004341	Abnormality of vitamin B12 metabolism	8029	CUBN	ORPHA:35858
HP:0004341	Abnormality of vitamin B12 metabolism	8029	CUBN	OMIM:261100
HP:0004341	Abnormality of vitamin B12 metabolism	81693	AMN	ORPHA:35858
HP:0004341	Abnormality of vitamin B12 metabolism	2694	CBLIF	OMIM:261000
HP:0004340	Abnormality of vitamin B metabolism	4552	MTRR	OMIM:236270
HP:0004340	Abnormality of vitamin B metabolism	197322	ACSF3	ORPHA:289504
HP:0004340	Abnormality of vitamin B metabolism	8802	SUCLG1	ORPHA:17
HP:0004340	Abnormality of vitamin B metabolism	8803	SUCLA2	OMIM:612073
HP:0004340	Abnormality of vitamin B metabolism	55788	LMBRD1	OMIM:277380
HP:0004340	Abnormality of vitamin B metabolism	25974	MMACHC	ORPHA:79282
HP:0004340	Abnormality of vitamin B metabolism	25974	MMACHC	OMIM:277400
HP:0004340	Abnormality of vitamin B metabolism	3054	HCFC1	OMIM:309541
HP:0004340	Abnormality of vitamin B metabolism	4329	ALDH6A1	OMIM:614105
HP:0004340	Abnormality of vitamin B metabolism	51293	CD320	OMIM:613646
HP:0004340	Abnormality of vitamin B metabolism	5826	ABCD4	OMIM:614857
HP:0004340	Abnormality of vitamin B metabolism	27249	MMADHC	OMIM:277410
HP:0004340	Abnormality of vitamin B metabolism	326625	MMAB	OMIM:251110
HP:0004340	Abnormality of vitamin B metabolism	4594	MMUT	OMIM:251000
HP:0004340	Abnormality of vitamin B metabolism	5052	PRDX1	OMIM:277400
HP:0004340	Abnormality of vitamin B metabolism	166785	MMAA	OMIM:251100
HP:0004340	Abnormality of vitamin B metabolism	4522	MTHFD1	OMIM:617780
HP:0004340	Abnormality of vitamin B metabolism	595	CCND1	ORPHA:29073
HP:0004340	Abnormality of vitamin B metabolism	7276	TTR	OMIM:115430
HP:0004340	Abnormality of vitamin B metabolism	8659	ALDH4A1	ORPHA:79101
HP:0004340	Abnormality of vitamin B metabolism	10841	FTCD	ORPHA:51208
HP:0004340	Abnormality of vitamin B metabolism	26834	RNU4-2	OMIM:620851
HP:0004340	Abnormality of vitamin B metabolism	50640	PNPLA8	OMIM:251950
HP:0004340	Abnormality of vitamin B metabolism	1719	DHFR	OMIM:613839
HP:0004340	Abnormality of vitamin B metabolism	6711	SPTBN1	OMIM:619475
HP:0004340	Abnormality of vitamin B metabolism	6573	SLC19A1	OMIM:620603
HP:0004340	Abnormality of vitamin B metabolism	355	FAS	ORPHA:3261
HP:0004340	Abnormality of vitamin B metabolism	356	FASLG	ORPHA:3261
HP:0004340	Abnormality of vitamin B metabolism	843	CASP10	ORPHA:3261
HP:0004340	Abnormality of vitamin B metabolism	6948	TCN2	OMIM:275350
HP:0004340	Abnormality of vitamin B metabolism	11342	RNF13	ORPHA:544503
HP:0004340	Abnormality of vitamin B metabolism	4548	MTR	OMIM:250940
HP:0004340	Abnormality of vitamin B metabolism	2917	GRM7	OMIM:618922
HP:0004340	Abnormality of vitamin B metabolism	3117	HLA-DQA1	OMIM:212750
HP:0004340	Abnormality of vitamin B metabolism	3119	HLA-DQB1	OMIM:212750
HP:0004340	Abnormality of vitamin B metabolism	2984	GUCY2C	OMIM:614616
HP:0004340	Abnormality of vitamin B metabolism	215	ABCD1	ORPHA:139399
HP:0004340	Abnormality of vitamin B metabolism	6492	SIM1	ORPHA:369873
HP:0004340	Abnormality of vitamin B metabolism	1737	DLAT	ORPHA:79244
HP:0004340	Abnormality of vitamin B metabolism	55065	SLC52A1	OMIM:615026
HP:0004340	Abnormality of vitamin B metabolism	55593	OTUD5	OMIM:301056
HP:0004340	Abnormality of vitamin B metabolism	374879	ZNF699	OMIM:619488
HP:0004340	Abnormality of vitamin B metabolism	8029	CUBN	ORPHA:35858
HP:0004340	Abnormality of vitamin B metabolism	8029	CUBN	OMIM:261100
HP:0004340	Abnormality of vitamin B metabolism	81693	AMN	ORPHA:35858
HP:0004340	Abnormality of vitamin B metabolism	2694	CBLIF	OMIM:261000
HP:0004340	Abnormality of vitamin B metabolism	113235	SLC46A1	OMIM:229050
HP:0004339	Abnormal circulating sulfur amino acid concentration	6573	SLC19A1	OMIM:601775
HP:0004339	Abnormal circulating sulfur amino acid concentration	4522	MTHFD1	OMIM:617780
HP:0004339	Abnormal circulating sulfur amino acid concentration	3054	HCFC1	OMIM:309541
HP:0004339	Abnormal circulating sulfur amino acid concentration	51293	CD320	OMIM:613646
HP:0004339	Abnormal circulating sulfur amino acid concentration	6948	TCN2	OMIM:275350
HP:0004339	Abnormal circulating sulfur amino acid concentration	84693	MCEE	OMIM:251120
HP:0004339	Abnormal circulating sulfur amino acid concentration	10165	SLC25A13	OMIM:605814
HP:0004339	Abnormal circulating sulfur amino acid concentration	10165	SLC25A13	ORPHA:247598
HP:0004339	Abnormal circulating sulfur amino acid concentration	132	ADK	OMIM:614300
HP:0004339	Abnormal circulating sulfur amino acid concentration	875	CBS	OMIM:236200
HP:0004339	Abnormal circulating sulfur amino acid concentration	4143	MAT1A	OMIM:250850
HP:0004339	Abnormal circulating sulfur amino acid concentration	2184	FAH	OMIM:276700
HP:0004339	Abnormal circulating sulfur amino acid concentration	27232	GNMT	OMIM:606664
HP:0004339	Abnormal circulating sulfur amino acid concentration	9652	SKIC3	OMIM:222470
HP:0004339	Abnormal circulating sulfur amino acid concentration	7019	TFAM	OMIM:617156
HP:0004339	Abnormal circulating sulfur amino acid concentration	4552	MTRR	OMIM:236270
HP:0004339	Abnormal circulating sulfur amino acid concentration	4552	MTRR	ORPHA:2169
HP:0004339	Abnormal circulating sulfur amino acid concentration	25974	MMACHC	ORPHA:79282
HP:0004339	Abnormal circulating sulfur amino acid concentration	25974	MMACHC	OMIM:277400
HP:0004339	Abnormal circulating sulfur amino acid concentration	55788	LMBRD1	ORPHA:79284
HP:0004339	Abnormal circulating sulfur amino acid concentration	4524	MTHFR	ORPHA:395
HP:0004339	Abnormal circulating sulfur amino acid concentration	5826	ABCD4	OMIM:614857
HP:0004339	Abnormal circulating sulfur amino acid concentration	4548	MTR	OMIM:250940
HP:0004339	Abnormal circulating sulfur amino acid concentration	27249	MMADHC	OMIM:277410
HP:0004339	Abnormal circulating sulfur amino acid concentration	5052	PRDX1	OMIM:277400
HP:0004339	Abnormal circulating sulfur amino acid concentration	191	AHCY	ORPHA:88618
HP:0004339	Abnormal circulating sulfur amino acid concentration	10157	AASS	ORPHA:3124
HP:0004339	Abnormal circulating sulfur amino acid concentration	4780	NFE2L2	OMIM:617744
HP:0004339	Abnormal circulating sulfur amino acid concentration	10243	GPHN	OMIM:615501
HP:0004338	Abnormal circulating aromatic amino acid concentration	10165	SLC25A13	OMIM:605814
HP:0004338	Abnormal circulating aromatic amino acid concentration	10165	SLC25A13	ORPHA:247598
HP:0004338	Abnormal circulating aromatic amino acid concentration	4358	MPV17	OMIM:256810
HP:0004338	Abnormal circulating aromatic amino acid concentration	6898	TAT	OMIM:276600
HP:0004338	Abnormal circulating aromatic amino acid concentration	2184	FAH	OMIM:276700
HP:0004338	Abnormal circulating aromatic amino acid concentration	617	BCS1L	OMIM:124000
HP:0004338	Abnormal circulating aromatic amino acid concentration	7019	TFAM	OMIM:617156
HP:0004338	Abnormal circulating aromatic amino acid concentration	10841	FTCD	OMIM:229100
HP:0004338	Abnormal circulating aromatic amino acid concentration	8942	KYNU	ORPHA:79155
HP:0004338	Abnormal circulating aromatic amino acid concentration	5053	PAH	OMIM:261600
HP:0004338	Abnormal circulating aromatic amino acid concentration	5053	PAH	ORPHA:79254
HP:0004338	Abnormal circulating aromatic amino acid concentration	5092	PCBD1	OMIM:264070
HP:0004338	Abnormal circulating aromatic amino acid concentration	5092	PCBD1	ORPHA:1578
HP:0004338	Abnormal circulating aromatic amino acid concentration	2643	GCH1	OMIM:233910
HP:0004338	Abnormal circulating aromatic amino acid concentration	5805	PTS	OMIM:261640
HP:0004338	Abnormal circulating aromatic amino acid concentration	5860	QDPR	OMIM:261630
HP:0004338	Abnormal circulating aromatic amino acid concentration	6697	SPR	OMIM:612716
HP:0004338	Abnormal circulating aromatic amino acid concentration	4929	NR4A2	ORPHA:98808
HP:0004338	Abnormal circulating aromatic amino acid concentration	3615	IMPDH2	ORPHA:98808
HP:0004338	Abnormal circulating aromatic amino acid concentration	55163	PNPO	ORPHA:79096
HP:0004338	Abnormal circulating aromatic amino acid concentration	3242	HPD	ORPHA:2118
HP:0004338	Abnormal circulating aromatic amino acid concentration	6999	TDO2	OMIM:600627
HP:0004337	Abnormality of amino acid metabolism	6898	TAT	ORPHA:28378
HP:0004337	Abnormality of amino acid metabolism	875	CBS	ORPHA:394
HP:0004337	Abnormality of amino acid metabolism	2068	ERCC2	ORPHA:220295
HP:0004337	Abnormality of amino acid metabolism	2073	ERCC5	ORPHA:220295
HP:0004337	Abnormality of amino acid metabolism	2072	ERCC4	ORPHA:220295
HP:0004337	Abnormality of amino acid metabolism	2071	ERCC3	ORPHA:220295
HP:0004337	Abnormality of amino acid metabolism	175	AGA	ORPHA:93
HP:0004337	Abnormality of amino acid metabolism	55532	SLC30A10	ORPHA:309854
HP:0004358	Abnormality of superoxide metabolism	4688	NCF2	OMIM:233710
HP:0004358	Abnormality of superoxide metabolism	133686	NADK2	ORPHA:431361
HP:0004358	Abnormality of superoxide metabolism	1536	CYBB	OMIM:306400
HP:0004358	Abnormality of superoxide metabolism	653361	NCF1	OMIM:233700
HP:0004358	Abnormality of superoxide metabolism	1535	CYBA	OMIM:233690
HP:0004357	Abnormal circulating leucine concentration	56922	MCCC1	ORPHA:6
HP:0004357	Abnormal circulating leucine concentration	64087	MCCC2	ORPHA:6
HP:0004357	Abnormal circulating leucine concentration	152926	PPM1K	OMIM:615135
HP:0004357	Abnormal circulating leucine concentration	594	BCKDHB	OMIM:620698
HP:0004357	Abnormal circulating leucine concentration	587	BCAT2	OMIM:618850
HP:0004357	Abnormal circulating leucine concentration	506	ATP5F1B	OMIM:620085
HP:0004357	Abnormal circulating leucine concentration	10295	BCKDK	OMIM:614923
HP:0004356	Abnormality of lysosomal metabolism	4982	TNFRSF11B	OMIM:239000
HP:0004356	Abnormality of lysosomal metabolism	4041	LRP5	OMIM:607634
HP:0004356	Abnormality of lysosomal metabolism	4952	OCRL	OMIM:309000
HP:0004356	Abnormality of lysosomal metabolism	760	CA2	OMIM:259730
HP:0004356	Abnormality of lysosomal metabolism	760	CA2	ORPHA:2785
HP:0004356	Abnormality of lysosomal metabolism	1186	CLCN7	OMIM:166600
HP:0004356	Abnormality of lysosomal metabolism	5660	PSAP	OMIM:610539
HP:0004356	Abnormality of lysosomal metabolism	79158	GNPTAB	OMIM:252600
HP:0004356	Abnormality of lysosomal metabolism	79158	GNPTAB	OMIM:252500
HP:0004356	Abnormality of lysosomal metabolism	427	ASAH1	OMIM:228000
HP:0004356	Abnormality of lysosomal metabolism	4864	NPC1	OMIM:257220
HP:0004354	Abnormal circulating carboxylic acid concentration	2731	GLDC	OMIM:605899
HP:0004354	Abnormal circulating carboxylic acid concentration	100303755	PET117	OMIM:619063
HP:0004354	Abnormal circulating carboxylic acid concentration	29968	PSAT1	ORPHA:284417
HP:0004354	Abnormal circulating carboxylic acid concentration	1351	COX8A	OMIM:619059
HP:0004354	Abnormal circulating carboxylic acid concentration	348932	SLC6A18	ORPHA:42062
HP:0004354	Abnormal circulating carboxylic acid concentration	153201	SLC36A2	ORPHA:42062
HP:0004354	Abnormal circulating carboxylic acid concentration	54716	SLC6A20	ORPHA:42062
HP:0004354	Abnormal circulating carboxylic acid concentration	340024	SLC6A19	ORPHA:42062
HP:0004354	Abnormal circulating carboxylic acid concentration	9054	NFS1	OMIM:619386
HP:0004354	Abnormal circulating carboxylic acid concentration	200205	IBA57	OMIM:615330
HP:0004354	Abnormal circulating carboxylic acid concentration	387787	LIPT2	OMIM:617668
HP:0004354	Abnormal circulating carboxylic acid concentration	388962	BOLA3	OMIM:614299
HP:0004354	Abnormal circulating carboxylic acid concentration	2653	GCSH	OMIM:620423
HP:0004354	Abnormal circulating carboxylic acid concentration	5095	PCCA	OMIM:606054
HP:0004354	Abnormal circulating carboxylic acid concentration	5096	PCCB	OMIM:606054
HP:0004354	Abnormal circulating carboxylic acid concentration	4522	MTHFD1	OMIM:617780
HP:0004354	Abnormal circulating carboxylic acid concentration	6948	TCN2	OMIM:275350
HP:0004354	Abnormal circulating carboxylic acid concentration	84693	MCEE	OMIM:251120
HP:0004354	Abnormal circulating carboxylic acid concentration	4953	ODC1	OMIM:619075
HP:0004354	Abnormal circulating carboxylic acid concentration	229	ALDOB	OMIM:229600
HP:0004354	Abnormal circulating carboxylic acid concentration	57680	CHD8	OMIM:615032
HP:0004354	Abnormal circulating carboxylic acid concentration	6006	RHCE	OMIM:617970
HP:0004354	Abnormal circulating carboxylic acid concentration	6006	RHCE	ORPHA:71275
HP:0004354	Abnormal circulating carboxylic acid concentration	54914	FOCAD	OMIM:619991
HP:0004354	Abnormal circulating carboxylic acid concentration	2936	GSR	OMIM:618660
HP:0004354	Abnormal circulating carboxylic acid concentration	6711	SPTBN1	OMIM:619475
HP:0004354	Abnormal circulating carboxylic acid concentration	3783	KCNN4	OMIM:616689
HP:0004354	Abnormal circulating carboxylic acid concentration	3145	HMBS	OMIM:620704
HP:0004354	Abnormal circulating carboxylic acid concentration	222546	RFX6	OMIM:615710
HP:0004354	Abnormal circulating carboxylic acid concentration	100151683	RNU4ATAC	OMIM:210710
HP:0004354	Abnormal circulating carboxylic acid concentration	6710	SPTB	OMIM:616649
HP:0004354	Abnormal circulating carboxylic acid concentration	6710	SPTB	ORPHA:822
HP:0004354	Abnormal circulating carboxylic acid concentration	6710	SPTB	ORPHA:288
HP:0004354	Abnormal circulating carboxylic acid concentration	57539	WDR35	OMIM:613610
HP:0004354	Abnormal circulating carboxylic acid concentration	9420	CYP7B1	OMIM:613812
HP:0004354	Abnormal circulating carboxylic acid concentration	9420	CYP7B1	ORPHA:79302
HP:0004354	Abnormal circulating carboxylic acid concentration	23600	AMACR	OMIM:214950
HP:0004354	Abnormal circulating carboxylic acid concentration	2623	GATA1	OMIM:301083
HP:0004354	Abnormal circulating carboxylic acid concentration	286	ANK1	OMIM:182900
HP:0004354	Abnormal circulating carboxylic acid concentration	286	ANK1	ORPHA:822
HP:0004354	Abnormal circulating carboxylic acid concentration	2038	EPB42	ORPHA:822
HP:0004354	Abnormal circulating carboxylic acid concentration	6521	SLC4A1	ORPHA:822
HP:0004354	Abnormal circulating carboxylic acid concentration	6521	SLC4A1	OMIM:612653
HP:0004354	Abnormal circulating carboxylic acid concentration	6708	SPTA1	ORPHA:822
HP:0004354	Abnormal circulating carboxylic acid concentration	6708	SPTA1	ORPHA:288
HP:0004354	Abnormal circulating carboxylic acid concentration	10165	SLC25A13	OMIM:605814
HP:0004354	Abnormal circulating carboxylic acid concentration	10165	SLC25A13	ORPHA:247598
HP:0004354	Abnormal circulating carboxylic acid concentration	7849	PAX8	OMIM:218700
HP:0004354	Abnormal circulating carboxylic acid concentration	5443	POMC	OMIM:609734
HP:0004354	Abnormal circulating carboxylic acid concentration	6573	SLC19A1	OMIM:601775
HP:0004354	Abnormal circulating carboxylic acid concentration	55610	VPS50	OMIM:619685
HP:0004354	Abnormal circulating carboxylic acid concentration	6514	SLC2A2	OMIM:227810
HP:0004354	Abnormal circulating carboxylic acid concentration	374879	ZNF699	OMIM:619488
HP:0004354	Abnormal circulating carboxylic acid concentration	5205	ATP8B1	ORPHA:69665
HP:0004354	Abnormal circulating carboxylic acid concentration	8647	ABCB11	ORPHA:69665
HP:0004354	Abnormal circulating carboxylic acid concentration	5244	ABCB4	ORPHA:69665
HP:0004354	Abnormal circulating carboxylic acid concentration	9971	NR1H4	ORPHA:69665
HP:0004354	Abnormal circulating carboxylic acid concentration	3098	HK1	OMIM:235700
HP:0004354	Abnormal circulating carboxylic acid concentration	226	ALDOA	OMIM:611881
HP:0004354	Abnormal circulating carboxylic acid concentration	5015	OTX2	OMIM:613986
HP:0004354	Abnormal circulating carboxylic acid concentration	9338	TCEAL1	OMIM:301094
HP:0004354	Abnormal circulating carboxylic acid concentration	540	ATP7B	OMIM:277900
HP:0004354	Abnormal circulating carboxylic acid concentration	2271	FH	OMIM:606812
HP:0004354	Abnormal circulating carboxylic acid concentration	9968	MED12	OMIM:301068
HP:0004354	Abnormal circulating carboxylic acid concentration	9493	KIF23	ORPHA:98870
HP:0004354	Abnormal circulating carboxylic acid concentration	29127	RACGAP1	ORPHA:98870
HP:0004354	Abnormal circulating carboxylic acid concentration	6005	RHAG	OMIM:185000
HP:0004354	Abnormal circulating carboxylic acid concentration	6005	RHAG	ORPHA:71275
HP:0004354	Abnormal circulating carboxylic acid concentration	55687	TRMU	OMIM:613070
HP:0004354	Abnormal circulating carboxylic acid concentration	79989	IFT56	OMIM:619534
HP:0004354	Abnormal circulating carboxylic acid concentration	3930	LBR	OMIM:613471
HP:0004354	Abnormal circulating carboxylic acid concentration	7019	TFAM	OMIM:617156
HP:0004354	Abnormal circulating carboxylic acid concentration	8260	NAA10	OMIM:300855
HP:0004354	Abnormal circulating carboxylic acid concentration	10661	KLF1	OMIM:613673
HP:0004354	Abnormal circulating carboxylic acid concentration	5824	PEX19	OMIM:614886
HP:0004354	Abnormal circulating carboxylic acid concentration	9451	EIF2AK3	ORPHA:1667
HP:0004354	Abnormal circulating carboxylic acid concentration	1716	DGUOK	OMIM:251880
HP:0004354	Abnormal circulating carboxylic acid concentration	28962	OSTM1	OMIM:259720
HP:0004354	Abnormal circulating carboxylic acid concentration	2035	EPB41	ORPHA:288
HP:0004354	Abnormal circulating carboxylic acid concentration	2995	GYPC	ORPHA:288
HP:0004354	Abnormal circulating carboxylic acid concentration	4547	MTTP	ORPHA:14
HP:0004354	Abnormal circulating carboxylic acid concentration	51251	NT5C3A	OMIM:266120
HP:0004354	Abnormal circulating carboxylic acid concentration	5825	ABCD3	OMIM:616278
HP:0004354	Abnormal circulating carboxylic acid concentration	146059	CDAN1	OMIM:224120
HP:0004354	Abnormal circulating carboxylic acid concentration	5230	PGK1	ORPHA:713
HP:0004354	Abnormal circulating carboxylic acid concentration	28234	SLCO1B3	ORPHA:3111
HP:0004354	Abnormal circulating carboxylic acid concentration	10599	SLCO1B1	ORPHA:3111
HP:0004354	Abnormal circulating carboxylic acid concentration	26276	VPS33B	OMIM:620010
HP:0004354	Abnormal circulating carboxylic acid concentration	6007	RHD	ORPHA:71275
HP:0004354	Abnormal circulating carboxylic acid concentration	6309	SC5D	OMIM:607330
HP:0004354	Abnormal circulating carboxylic acid concentration	1244	ABCC2	ORPHA:234
HP:0004354	Abnormal circulating carboxylic acid concentration	1244	ABCC2	OMIM:237500
HP:0004354	Abnormal circulating carboxylic acid concentration	80270	HSD3B7	OMIM:607765
HP:0004354	Abnormal circulating carboxylic acid concentration	3376	IARS1	OMIM:617093
HP:0004354	Abnormal circulating carboxylic acid concentration	51218	GLRX5	OMIM:616860
HP:0004354	Abnormal circulating carboxylic acid concentration	2629	GBA1	ORPHA:85212
HP:0004354	Abnormal circulating carboxylic acid concentration	26503	SLC17A5	OMIM:269920
HP:0004354	Abnormal circulating carboxylic acid concentration	570	BAAT	OMIM:619232
HP:0004354	Abnormal circulating carboxylic acid concentration	3643	INSR	OMIM:246200
HP:0004354	Abnormal circulating carboxylic acid concentration	11232	POLG2	OMIM:618528
HP:0004354	Abnormal circulating carboxylic acid concentration	5828	PEX2	OMIM:614866
HP:0004354	Abnormal circulating carboxylic acid concentration	6091	ROBO1	OMIM:620305
HP:0004354	Abnormal circulating carboxylic acid concentration	5195	PEX14	OMIM:614887
HP:0004354	Abnormal circulating carboxylic acid concentration	6513	SLC2A1	ORPHA:168577
HP:0004354	Abnormal circulating carboxylic acid concentration	6513	SLC2A1	OMIM:608885
HP:0004354	Abnormal circulating carboxylic acid concentration	197131	UBR1	OMIM:243800
HP:0004354	Abnormal circulating carboxylic acid concentration	3594	IL12RB1	ORPHA:186
HP:0004354	Abnormal circulating carboxylic acid concentration	23534	TNPO3	ORPHA:186
HP:0004354	Abnormal circulating carboxylic acid concentration	3592	IL12A	ORPHA:186
HP:0004354	Abnormal circulating carboxylic acid concentration	6689	SPIB	ORPHA:186
HP:0004354	Abnormal circulating carboxylic acid concentration	5450	POU2AF1	ORPHA:186
HP:0004354	Abnormal circulating carboxylic acid concentration	9966	TNFSF15	ORPHA:186
HP:0004354	Abnormal circulating carboxylic acid concentration	79258	MMEL1	ORPHA:186
HP:0004354	Abnormal circulating carboxylic acid concentration	3663	IRF5	ORPHA:186
HP:0004354	Abnormal circulating carboxylic acid concentration	200931	SLC51A	OMIM:619484
HP:0004354	Abnormal circulating carboxylic acid concentration	63894	VIPAS39	OMIM:613404
HP:0004354	Abnormal circulating carboxylic acid concentration	4067	LYN	OMIM:620376
HP:0004354	Abnormal circulating carboxylic acid concentration	4552	MTRR	OMIM:236270
HP:0004354	Abnormal circulating carboxylic acid concentration	197322	ACSF3	ORPHA:289504
HP:0004354	Abnormal circulating carboxylic acid concentration	8802	SUCLG1	ORPHA:17
HP:0004354	Abnormal circulating carboxylic acid concentration	8803	SUCLA2	OMIM:612073
HP:0004354	Abnormal circulating carboxylic acid concentration	55788	LMBRD1	OMIM:277380
HP:0004354	Abnormal circulating carboxylic acid concentration	25974	MMACHC	ORPHA:79282
HP:0004354	Abnormal circulating carboxylic acid concentration	25974	MMACHC	OMIM:277400
HP:0004354	Abnormal circulating carboxylic acid concentration	3054	HCFC1	OMIM:309541
HP:0004354	Abnormal circulating carboxylic acid concentration	4329	ALDH6A1	OMIM:614105
HP:0004354	Abnormal circulating carboxylic acid concentration	51293	CD320	OMIM:613646
HP:0004354	Abnormal circulating carboxylic acid concentration	5826	ABCD4	OMIM:614857
HP:0004354	Abnormal circulating carboxylic acid concentration	27249	MMADHC	OMIM:277410
HP:0004354	Abnormal circulating carboxylic acid concentration	326625	MMAB	OMIM:251110
HP:0004354	Abnormal circulating carboxylic acid concentration	4594	MMUT	OMIM:251000
HP:0004354	Abnormal circulating carboxylic acid concentration	5052	PRDX1	OMIM:277400
HP:0004354	Abnormal circulating carboxylic acid concentration	166785	MMAA	OMIM:251100
HP:0004354	Abnormal circulating carboxylic acid concentration	55343	SLC35C1	OMIM:266265
HP:0004354	Abnormal circulating carboxylic acid concentration	9361	LONP1	OMIM:600373
HP:0004354	Abnormal circulating carboxylic acid concentration	51241	COX16	OMIM:619355
HP:0004354	Abnormal circulating carboxylic acid concentration	2744	GLS	OMIM:618412
HP:0004354	Abnormal circulating carboxylic acid concentration	6898	TAT	OMIM:276600
HP:0004354	Abnormal circulating carboxylic acid concentration	2184	FAH	OMIM:276700
HP:0004354	Abnormal circulating carboxylic acid concentration	617	BCS1L	OMIM:124000
HP:0004354	Abnormal circulating carboxylic acid concentration	1497	CTNS	OMIM:219800
HP:0004354	Abnormal circulating carboxylic acid concentration	3155	HMGCL	OMIM:246450
HP:0004354	Abnormal circulating carboxylic acid concentration	4556	MT-TE	ORPHA:254864
HP:0004354	Abnormal circulating carboxylic acid concentration	37	ACADVL	OMIM:201475
HP:0004354	Abnormal circulating carboxylic acid concentration	4695	NDUFA2	OMIM:618235
HP:0004354	Abnormal circulating carboxylic acid concentration	34	ACADM	OMIM:201450
HP:0004354	Abnormal circulating carboxylic acid concentration	1294	COL7A1	ORPHA:89842
HP:0004354	Abnormal circulating carboxylic acid concentration	27034	ACAD8	OMIM:611283
HP:0004354	Abnormal circulating carboxylic acid concentration	27034	ACAD8	ORPHA:79159
HP:0004354	Abnormal circulating carboxylic acid concentration	28976	ACAD9	ORPHA:99901
HP:0004354	Abnormal circulating carboxylic acid concentration	788	SLC25A20	ORPHA:159
HP:0004354	Abnormal circulating carboxylic acid concentration	1962	EHHADH	ORPHA:3337
HP:0004354	Abnormal circulating carboxylic acid concentration	2628	GATM	ORPHA:3337
HP:0004354	Abnormal circulating carboxylic acid concentration	137682	NDUFAF6	ORPHA:3337
HP:0004354	Abnormal circulating carboxylic acid concentration	6569	SLC34A1	ORPHA:3337
HP:0004354	Abnormal circulating carboxylic acid concentration	6584	SLC22A5	OMIM:212140
HP:0004354	Abnormal circulating carboxylic acid concentration	875	CBS	OMIM:236200
HP:0004354	Abnormal circulating carboxylic acid concentration	4143	MAT1A	OMIM:250850
HP:0004354	Abnormal circulating carboxylic acid concentration	27232	GNMT	OMIM:606664
HP:0004354	Abnormal circulating carboxylic acid concentration	9652	SKIC3	OMIM:222470
HP:0004354	Abnormal circulating carboxylic acid concentration	4982	TNFRSF11B	OMIM:239000
HP:0004354	Abnormal circulating carboxylic acid concentration	3479	IGF1	ORPHA:73272
HP:0004354	Abnormal circulating carboxylic acid concentration	7355	SLC35A2	OMIM:300896
HP:0004354	Abnormal circulating carboxylic acid concentration	2876	GPX1	OMIM:614164
HP:0004354	Abnormal circulating carboxylic acid concentration	405753	DUOXA2	ORPHA:95716
HP:0004354	Abnormal circulating carboxylic acid concentration	6528	SLC5A5	ORPHA:95716
HP:0004354	Abnormal circulating carboxylic acid concentration	7038	TG	ORPHA:95716
HP:0004354	Abnormal circulating carboxylic acid concentration	7173	TPO	ORPHA:95716
HP:0004354	Abnormal circulating carboxylic acid concentration	389434	IYD	ORPHA:95716
HP:0004354	Abnormal circulating carboxylic acid concentration	50506	DUOX2	ORPHA:95716
HP:0004354	Abnormal circulating carboxylic acid concentration	10908	PNPLA6	ORPHA:3363
HP:0004354	Abnormal circulating carboxylic acid concentration	5048	PAFAH1B1	ORPHA:95232
HP:0004354	Abnormal circulating carboxylic acid concentration	9780	PIEZO1	ORPHA:3202
HP:0004354	Abnormal circulating carboxylic acid concentration	2203	FBP1	ORPHA:348
HP:0004354	Abnormal circulating carboxylic acid concentration	1371	CPOX	OMIM:618892
HP:0004354	Abnormal circulating carboxylic acid concentration	7319	UBE2A	ORPHA:163956
HP:0004354	Abnormal circulating carboxylic acid concentration	54658	UGT1A1	ORPHA:79234
HP:0004354	Abnormal circulating carboxylic acid concentration	54658	UGT1A1	ORPHA:79235
HP:0004354	Abnormal circulating carboxylic acid concentration	7253	TSHR	ORPHA:90673
HP:0004354	Abnormal circulating carboxylic acid concentration	7252	TSHB	ORPHA:90674
HP:0004354	Abnormal circulating carboxylic acid concentration	1491	CTH	ORPHA:212
HP:0004354	Abnormal circulating carboxylic acid concentration	4524	MTHFR	ORPHA:395
HP:0004354	Abnormal circulating carboxylic acid concentration	5091	PC	OMIM:266150
HP:0004354	Abnormal circulating carboxylic acid concentration	55768	NGLY1	OMIM:615273
HP:0004354	Abnormal circulating carboxylic acid concentration	26235	FBXL4	OMIM:615471
HP:0004354	Abnormal circulating carboxylic acid concentration	11222	MRPL3	OMIM:614582
HP:0004354	Abnormal circulating carboxylic acid concentration	25821	MTO1	OMIM:614702
HP:0004354	Abnormal circulating carboxylic acid concentration	57176	VARS2	OMIM:615917
HP:0004354	Abnormal circulating carboxylic acid concentration	6341	SCO1	OMIM:619048
HP:0004354	Abnormal circulating carboxylic acid concentration	1841	DTYMK	OMIM:619847
HP:0004354	Abnormal circulating carboxylic acid concentration	4285	MIPEP	OMIM:617228
HP:0004354	Abnormal circulating carboxylic acid concentration	54931	TRMT10C	OMIM:616974
HP:0004354	Abnormal circulating carboxylic acid concentration	4976	OPA1	OMIM:616896
HP:0004354	Abnormal circulating carboxylic acid concentration	1890	TYMP	ORPHA:298
HP:0004354	Abnormal circulating carboxylic acid concentration	3980	LIG3	ORPHA:298
HP:0004354	Abnormal circulating carboxylic acid concentration	50484	RRM2B	ORPHA:298
HP:0004354	Abnormal circulating carboxylic acid concentration	1340	COX6B1	OMIM:619051
HP:0004354	Abnormal circulating carboxylic acid concentration	90161	HS6ST2	OMIM:301025
HP:0004354	Abnormal circulating carboxylic acid concentration	4509	MT-ATP8	ORPHA:254913
HP:0004354	Abnormal circulating carboxylic acid concentration	514	ATP5F1E	ORPHA:254913
HP:0004354	Abnormal circulating carboxylic acid concentration	513	ATP5F1D	ORPHA:254913
HP:0004354	Abnormal circulating carboxylic acid concentration	84833	ATP5MK	ORPHA:254913
HP:0004354	Abnormal circulating carboxylic acid concentration	91647	ATPAF2	ORPHA:254913
HP:0004354	Abnormal circulating carboxylic acid concentration	51116	MRPS2	OMIM:617950
HP:0004354	Abnormal circulating carboxylic acid concentration	125988	MICOS13	OMIM:618329
HP:0004354	Abnormal circulating carboxylic acid concentration	54148	MRPL39	OMIM:620646
HP:0004354	Abnormal circulating carboxylic acid concentration	51079	NDUFA13	OMIM:618249
HP:0004354	Abnormal circulating carboxylic acid concentration	291	SLC25A4	OMIM:615418
HP:0004354	Abnormal circulating carboxylic acid concentration	54968	TMEM70	OMIM:614052
HP:0004354	Abnormal circulating carboxylic acid concentration	3735	KARS1	OMIM:619147
HP:0004354	Abnormal circulating carboxylic acid concentration	63931	MRPS14	OMIM:618378
HP:0004354	Abnormal circulating carboxylic acid concentration	57017	COQ9	OMIM:614654
HP:0004354	Abnormal circulating carboxylic acid concentration	84947	SERAC1	OMIM:614739
HP:0004354	Abnormal circulating carboxylic acid concentration	3000	GUCY2D	OMIM:204000
HP:0004354	Abnormal circulating carboxylic acid concentration	79783	SUGCT	ORPHA:35706
HP:0004354	Abnormal circulating carboxylic acid concentration	131118	DNAJC19	ORPHA:66634
HP:0004354	Abnormal circulating carboxylic acid concentration	2110	ETFDH	OMIM:231680
HP:0004354	Abnormal circulating carboxylic acid concentration	2108	ETFA	OMIM:231680
HP:0004354	Abnormal circulating carboxylic acid concentration	2109	ETFB	OMIM:231680
HP:0004354	Abnormal circulating carboxylic acid concentration	2639	GCDH	OMIM:231670
HP:0004354	Abnormal circulating carboxylic acid concentration	9131	AIFM1	ORPHA:238329
HP:0004354	Abnormal circulating carboxylic acid concentration	4358	MPV17	OMIM:256810
HP:0004354	Abnormal circulating carboxylic acid concentration	54539	NDUFB11	ORPHA:2609
HP:0004354	Abnormal circulating carboxylic acid concentration	25915	NDUFAF3	ORPHA:2609
HP:0004354	Abnormal circulating carboxylic acid concentration	51103	NDUFAF1	ORPHA:2609
HP:0004354	Abnormal circulating carboxylic acid concentration	91942	NDUFAF2	ORPHA:2609
HP:0004354	Abnormal circulating carboxylic acid concentration	51300	TIMMDC1	ORPHA:2609
HP:0004354	Abnormal circulating carboxylic acid concentration	4716	NDUFB10	ORPHA:2609
HP:0004354	Abnormal circulating carboxylic acid concentration	4723	NDUFV1	ORPHA:2609
HP:0004354	Abnormal circulating carboxylic acid concentration	55572	FOXRED1	ORPHA:2609
HP:0004354	Abnormal circulating carboxylic acid concentration	284184	NDUFAF8	ORPHA:2609
HP:0004354	Abnormal circulating carboxylic acid concentration	55863	TMEM126B	ORPHA:2609
HP:0004354	Abnormal circulating carboxylic acid concentration	4535	MT-ND1	ORPHA:2609
HP:0004354	Abnormal circulating carboxylic acid concentration	4537	MT-ND3	ORPHA:2609
HP:0004354	Abnormal circulating carboxylic acid concentration	4729	NDUFV2	ORPHA:2609
HP:0004354	Abnormal circulating carboxylic acid concentration	4694	NDUFA1	ORPHA:2609
HP:0004354	Abnormal circulating carboxylic acid concentration	4720	NDUFS2	ORPHA:2609
HP:0004354	Abnormal circulating carboxylic acid concentration	4724	NDUFS4	ORPHA:2609
HP:0004354	Abnormal circulating carboxylic acid concentration	4726	NDUFS6	ORPHA:2609
HP:0004354	Abnormal circulating carboxylic acid concentration	4728	NDUFS8	ORPHA:2609
HP:0004354	Abnormal circulating carboxylic acid concentration	4722	NDUFS3	ORPHA:2609
HP:0004354	Abnormal circulating carboxylic acid concentration	79133	NDUFAF5	ORPHA:2609
HP:0004354	Abnormal circulating carboxylic acid concentration	126328	NDUFA11	ORPHA:2609
HP:0004354	Abnormal circulating carboxylic acid concentration	4709	NDUFB3	ORPHA:2609
HP:0004354	Abnormal circulating carboxylic acid concentration	80224	NUBPL	ORPHA:2609
HP:0004354	Abnormal circulating carboxylic acid concentration	29078	NDUFAF4	ORPHA:2609
HP:0004354	Abnormal circulating carboxylic acid concentration	374291	NDUFS7	ORPHA:2609
HP:0004354	Abnormal circulating carboxylic acid concentration	4700	NDUFA6	ORPHA:2609
HP:0004354	Abnormal circulating carboxylic acid concentration	4536	MT-ND2	ORPHA:2609
HP:0004354	Abnormal circulating carboxylic acid concentration	4719	NDUFS1	ORPHA:2609
HP:0004354	Abnormal circulating carboxylic acid concentration	4715	NDUFB9	ORPHA:2609
HP:0004354	Abnormal circulating carboxylic acid concentration	5160	PDHA1	ORPHA:79243
HP:0004354	Abnormal circulating carboxylic acid concentration	4566	MT-TK	ORPHA:1349
HP:0004354	Abnormal circulating carboxylic acid concentration	4204	MECP2	ORPHA:778
HP:0004354	Abnormal circulating carboxylic acid concentration	5428	POLG	ORPHA:94125
HP:0004354	Abnormal circulating carboxylic acid concentration	763	CA5A	OMIM:615751
HP:0004354	Abnormal circulating carboxylic acid concentration	5009	OTC	ORPHA:664
HP:0004354	Abnormal circulating carboxylic acid concentration	5009	OTC	OMIM:311250
HP:0004354	Abnormal circulating carboxylic acid concentration	4538	MT-ND4	ORPHA:255210
HP:0004354	Abnormal circulating carboxylic acid concentration	4567	MT-TL1	ORPHA:255210
HP:0004354	Abnormal circulating carboxylic acid concentration	4578	MT-TW	ORPHA:255210
HP:0004354	Abnormal circulating carboxylic acid concentration	4577	MT-TV	ORPHA:255210
HP:0004354	Abnormal circulating carboxylic acid concentration	4508	MT-ATP6	ORPHA:255210
HP:0004354	Abnormal circulating carboxylic acid concentration	4540	MT-ND5	ORPHA:255210
HP:0004354	Abnormal circulating carboxylic acid concentration	4541	MT-ND6	ORPHA:255210
HP:0004354	Abnormal circulating carboxylic acid concentration	29960	MRM2	OMIM:618567
HP:0004354	Abnormal circulating carboxylic acid concentration	498	ATP5F1A	OMIM:620358
HP:0004354	Abnormal circulating carboxylic acid concentration	1373	CPS1	OMIM:237300
HP:0004354	Abnormal circulating carboxylic acid concentration	5832	ALDH18A1	OMIM:219150
HP:0004354	Abnormal circulating carboxylic acid concentration	5105	PCK1	OMIM:261680
HP:0004354	Abnormal circulating carboxylic acid concentration	162417	NAGS	OMIM:237310
HP:0004354	Abnormal circulating carboxylic acid concentration	5551	PRF1	OMIM:603553
HP:0004354	Abnormal circulating carboxylic acid concentration	1376	CPT2	OMIM:608836
HP:0004354	Abnormal circulating carboxylic acid concentration	51601	LIPT1	OMIM:616299
HP:0004354	Abnormal circulating carboxylic acid concentration	5213	PFKM	OMIM:232800
HP:0004354	Abnormal circulating carboxylic acid concentration	11231	SEC63	ORPHA:2924
HP:0004354	Abnormal circulating carboxylic acid concentration	5589	PRKCSH	ORPHA:2924
HP:0004354	Abnormal circulating carboxylic acid concentration	5589	PRKCSH	OMIM:174050
HP:0004354	Abnormal circulating carboxylic acid concentration	4041	LRP5	ORPHA:2924
HP:0004354	Abnormal circulating carboxylic acid concentration	51473	DCDC2	ORPHA:84081
HP:0004354	Abnormal circulating carboxylic acid concentration	91147	TMEM67	ORPHA:84081
HP:0004354	Abnormal circulating carboxylic acid concentration	4548	MTR	OMIM:250940
HP:0004354	Abnormal circulating carboxylic acid concentration	6531	SLC6A3	ORPHA:238455
HP:0004354	Abnormal circulating carboxylic acid concentration	56922	MCCC1	ORPHA:6
HP:0004354	Abnormal circulating carboxylic acid concentration	64087	MCCC2	ORPHA:6
HP:0004354	Abnormal circulating carboxylic acid concentration	5053	PAH	OMIM:261600
HP:0004354	Abnormal circulating carboxylic acid concentration	5053	PAH	ORPHA:79254
HP:0004354	Abnormal circulating carboxylic acid concentration	5092	PCBD1	OMIM:264070
HP:0004354	Abnormal circulating carboxylic acid concentration	5092	PCBD1	ORPHA:1578
HP:0004354	Abnormal circulating carboxylic acid concentration	2643	GCH1	OMIM:233910
HP:0004354	Abnormal circulating carboxylic acid concentration	5805	PTS	OMIM:261640
HP:0004354	Abnormal circulating carboxylic acid concentration	5860	QDPR	OMIM:261630
HP:0004354	Abnormal circulating carboxylic acid concentration	6697	SPR	OMIM:612716
HP:0004354	Abnormal circulating carboxylic acid concentration	5313	PKLR	OMIM:266200
HP:0004354	Abnormal circulating carboxylic acid concentration	5313	PKLR	ORPHA:766
HP:0004354	Abnormal circulating carboxylic acid concentration	3043	HBB	ORPHA:232
HP:0004354	Abnormal circulating carboxylic acid concentration	55532	SLC30A10	OMIM:613280
HP:0004354	Abnormal circulating carboxylic acid concentration	374354	NHLRC2	OMIM:618278
HP:0004354	Abnormal circulating carboxylic acid concentration	8573	CASK	OMIM:300908
HP:0004354	Abnormal circulating carboxylic acid concentration	2539	G6PD	OMIM:300908
HP:0004354	Abnormal circulating carboxylic acid concentration	7080	NKX2-1	ORPHA:95713
HP:0004354	Abnormal circulating carboxylic acid concentration	1482	NKX2-5	ORPHA:95713
HP:0004354	Abnormal circulating carboxylic acid concentration	2304	FOXE1	ORPHA:95713
HP:0004354	Abnormal circulating carboxylic acid concentration	5172	SLC26A4	ORPHA:95713
HP:0004354	Abnormal circulating carboxylic acid concentration	10056	FARSB	OMIM:613658
HP:0004354	Abnormal circulating carboxylic acid concentration	7390	UROS	ORPHA:79277
HP:0004354	Abnormal circulating carboxylic acid concentration	8085	KMT2D	OMIM:620186
HP:0004354	Abnormal circulating carboxylic acid concentration	5277	PIGA	ORPHA:447
HP:0004354	Abnormal circulating carboxylic acid concentration	3664	IRF6	ORPHA:1300
HP:0004354	Abnormal circulating carboxylic acid concentration	275	AMT	OMIM:620398
HP:0004354	Abnormal circulating carboxylic acid concentration	4929	NR4A2	ORPHA:98808
HP:0004354	Abnormal circulating carboxylic acid concentration	3615	IMPDH2	ORPHA:98808
HP:0004354	Abnormal circulating carboxylic acid concentration	1738	DLD	ORPHA:2394
HP:0004354	Abnormal circulating carboxylic acid concentration	9377	COX5A	OMIM:619064
HP:0004354	Abnormal circulating carboxylic acid concentration	5625	PRODH	OMIM:600850
HP:0004354	Abnormal circulating carboxylic acid concentration	5625	PRODH	OMIM:239500
HP:0004354	Abnormal circulating carboxylic acid concentration	5625	PRODH	ORPHA:419
HP:0004354	Abnormal circulating carboxylic acid concentration	4718	NDUFC2	OMIM:619170
HP:0004354	Abnormal circulating carboxylic acid concentration	1352	COX10	OMIM:619046
HP:0004354	Abnormal circulating carboxylic acid concentration	54704	PDP1	ORPHA:79246
HP:0004354	Abnormal circulating carboxylic acid concentration	79736	TEFM	OMIM:620451
HP:0004354	Abnormal circulating carboxylic acid concentration	80222	TARS2	OMIM:615918
HP:0004354	Abnormal circulating carboxylic acid concentration	1757	SARDH	ORPHA:3129
HP:0004354	Abnormal circulating carboxylic acid concentration	1757	SARDH	OMIM:268900
HP:0004354	Abnormal circulating carboxylic acid concentration	191	AHCY	ORPHA:88618
HP:0004354	Abnormal circulating carboxylic acid concentration	55163	PNPO	ORPHA:79096
HP:0004354	Abnormal circulating carboxylic acid concentration	10841	FTCD	ORPHA:51208
HP:0004354	Abnormal circulating carboxylic acid concentration	131669	UROC1	ORPHA:210128
HP:0004354	Abnormal circulating carboxylic acid concentration	3034	HAL	OMIM:235800
HP:0004354	Abnormal circulating carboxylic acid concentration	3034	HAL	ORPHA:2157
HP:0004354	Abnormal circulating carboxylic acid concentration	10367	MICU1	OMIM:615673
HP:0004354	Abnormal circulating carboxylic acid concentration	152926	PPM1K	OMIM:615135
HP:0004354	Abnormal circulating carboxylic acid concentration	594	BCKDHB	OMIM:620698
HP:0004354	Abnormal circulating carboxylic acid concentration	587	BCAT2	OMIM:618850
HP:0004354	Abnormal circulating carboxylic acid concentration	506	ATP5F1B	OMIM:620085
HP:0004354	Abnormal circulating carboxylic acid concentration	8050	PDHX	ORPHA:255182
HP:0004354	Abnormal circulating carboxylic acid concentration	3242	HPD	ORPHA:2118
HP:0004354	Abnormal circulating carboxylic acid concentration	133686	NADK2	ORPHA:431361
HP:0004354	Abnormal circulating carboxylic acid concentration	4312	MMP1	ORPHA:79408
HP:0004354	Abnormal circulating carboxylic acid concentration	10166	SLC25A15	ORPHA:415
HP:0004354	Abnormal circulating carboxylic acid concentration	445	ASS1	OMIM:215700
HP:0004354	Abnormal circulating carboxylic acid concentration	10157	AASS	ORPHA:3124
HP:0004354	Abnormal circulating carboxylic acid concentration	4942	OAT	OMIM:258870
HP:0004354	Abnormal circulating carboxylic acid concentration	4942	OAT	ORPHA:414
HP:0004354	Abnormal circulating carboxylic acid concentration	283209	PGM2L1	OMIM:620191
HP:0004354	Abnormal circulating carboxylic acid concentration	3033	HADH	ORPHA:71212
HP:0004354	Abnormal circulating carboxylic acid concentration	84033	OBSCN	OMIM:620235
HP:0004354	Abnormal circulating carboxylic acid concentration	84896	ATAD1	OMIM:618011
HP:0004354	Abnormal circulating carboxylic acid concentration	9414	TJP2	OMIM:607748
HP:0004354	Abnormal circulating carboxylic acid concentration	6888	TALDO1	ORPHA:101028
HP:0004354	Abnormal circulating carboxylic acid concentration	6554	SLC10A1	OMIM:619256
HP:0004354	Abnormal circulating carboxylic acid concentration	55898	UNC45A	OMIM:619377
HP:0004354	Abnormal circulating carboxylic acid concentration	57003	CCDC47	OMIM:618268
HP:0004354	Abnormal circulating carboxylic acid concentration	162	AP1B1	OMIM:242150
HP:0004354	Abnormal circulating carboxylic acid concentration	113220	KIF12	OMIM:619662
HP:0004354	Abnormal circulating carboxylic acid concentration	4645	MYO5B	OMIM:619868
HP:0004354	Abnormal circulating carboxylic acid concentration	199221	DZIP1L	ORPHA:731
HP:0004354	Abnormal circulating carboxylic acid concentration	5314	PKHD1	ORPHA:731
HP:0004354	Abnormal circulating carboxylic acid concentration	134218	DNAJC21	ORPHA:811
HP:0004354	Abnormal circulating carboxylic acid concentration	79631	EFL1	ORPHA:811
HP:0004354	Abnormal circulating carboxylic acid concentration	51119	SBDS	ORPHA:811
HP:0004354	Abnormal circulating carboxylic acid concentration	26227	PHGDH	ORPHA:79351
HP:0004354	Abnormal circulating carboxylic acid concentration	9056	SLC7A7	ORPHA:470
HP:0004354	Abnormal circulating carboxylic acid concentration	5723	PSPH	ORPHA:79350
HP:0004354	Abnormal circulating carboxylic acid concentration	5723	PSPH	OMIM:614023
HP:0004354	Abnormal circulating carboxylic acid concentration	6718	AKR1D1	ORPHA:79303
HP:0004354	Abnormal circulating carboxylic acid concentration	29958	DMGDH	OMIM:605850
HP:0004354	Abnormal circulating carboxylic acid concentration	443	ASPA	OMIM:271900
HP:0004354	Abnormal circulating carboxylic acid concentration	435	ASL	ORPHA:23
HP:0004354	Abnormal circulating carboxylic acid concentration	435	ASL	OMIM:207900
HP:0004354	Abnormal circulating carboxylic acid concentration	2222	FDFT1	OMIM:618156
HP:0004354	Abnormal circulating carboxylic acid concentration	593	BCKDHA	OMIM:248600
HP:0004354	Abnormal circulating carboxylic acid concentration	7385	UQCRC2	OMIM:615160
HP:0004354	Abnormal circulating carboxylic acid concentration	27247	NFU1	OMIM:605711
HP:0004354	Abnormal circulating carboxylic acid concentration	23474	ETHE1	OMIM:602473
HP:0004354	Abnormal circulating carboxylic acid concentration	3712	IVD	ORPHA:33
HP:0004354	Abnormal circulating carboxylic acid concentration	8482	SEMA7A	OMIM:619874
HP:0004354	Abnormal circulating carboxylic acid concentration	123264	SLC51B	OMIM:619481
HP:0004354	Abnormal circulating carboxylic acid concentration	3028	HSD17B10	OMIM:300438
HP:0004354	Abnormal circulating carboxylic acid concentration	55670	PEX26	OMIM:614872
HP:0004354	Abnormal circulating carboxylic acid concentration	10059	DNM1L	OMIM:614388
HP:0004354	Abnormal circulating carboxylic acid concentration	2593	GAMT	OMIM:612736
HP:0004354	Abnormal circulating carboxylic acid concentration	501	ALDH7A1	OMIM:266100
HP:0004354	Abnormal circulating carboxylic acid concentration	644	BLVRA	OMIM:614156
HP:0004354	Abnormal circulating carboxylic acid concentration	132	ADK	OMIM:614300
HP:0004354	Abnormal circulating carboxylic acid concentration	3418	IDH2	OMIM:613657
HP:0004354	Abnormal circulating carboxylic acid concentration	79944	L2HGDH	OMIM:236792
HP:0004354	Abnormal circulating carboxylic acid concentration	35	ACADS	ORPHA:26792
HP:0004354	Abnormal circulating carboxylic acid concentration	55065	SLC52A1	OMIM:615026
HP:0004354	Abnormal circulating carboxylic acid concentration	128989	TANGO2	OMIM:616878
HP:0004354	Abnormal circulating carboxylic acid concentration	128989	TANGO2	ORPHA:480864
HP:0004354	Abnormal circulating carboxylic acid concentration	90624	LYRM7	OMIM:615838
HP:0004354	Abnormal circulating carboxylic acid concentration	3030	HADHA	OMIM:609015
HP:0004354	Abnormal circulating carboxylic acid concentration	54532	USP53	OMIM:619658
HP:0004354	Abnormal circulating carboxylic acid concentration	4353	MPO	OMIM:104300
HP:0004354	Abnormal circulating carboxylic acid concentration	4846	NOS3	OMIM:104300
HP:0004354	Abnormal circulating carboxylic acid concentration	5328	PLAU	OMIM:104300
HP:0004354	Abnormal circulating carboxylic acid concentration	351	APP	OMIM:104300
HP:0004354	Abnormal circulating carboxylic acid concentration	2592	GALT	OMIM:230400
HP:0004354	Abnormal circulating carboxylic acid concentration	6999	TDO2	OMIM:600627
HP:0004354	Abnormal circulating carboxylic acid concentration	10295	BCKDK	OMIM:614923
HP:0004354	Abnormal circulating carboxylic acid concentration	2752	GLUL	OMIM:610015
HP:0004354	Abnormal circulating carboxylic acid concentration	2752	GLUL	OMIM:620806
HP:0004354	Abnormal circulating carboxylic acid concentration	4190	MDH1	OMIM:618959
HP:0004354	Abnormal circulating carboxylic acid concentration	4780	NFE2L2	OMIM:617744
HP:0004354	Abnormal circulating carboxylic acid concentration	10243	GPHN	OMIM:615501
HP:0004354	Abnormal circulating carboxylic acid concentration	383	ARG1	OMIM:207800
HP:0004354	Abnormal circulating carboxylic acid concentration	440	ASNS	OMIM:615574
HP:0004354	Abnormal circulating carboxylic acid concentration	132158	GLYCTK	OMIM:220120
HP:0004354	Abnormal circulating carboxylic acid concentration	7915	ALDH5A1	OMIM:271980
HP:0004354	Abnormal circulating carboxylic acid concentration	8659	ALDH4A1	OMIM:239510
HP:0004354	Abnormal circulating carboxylic acid concentration	51733	UPB1	OMIM:613161
HP:0004354	Abnormal circulating carboxylic acid concentration	8942	KYNU	OMIM:617661
HP:0004353	Abnormal circulating pyrimidine concentration	5009	OTC	OMIM:311250
HP:0004353	Abnormal circulating pyrimidine concentration	1807	DPYS	OMIM:222748
HP:0004353	Abnormal circulating pyrimidine concentration	1890	TYMP	OMIM:603041
HP:0004353	Abnormal circulating pyrimidine concentration	5428	POLG	OMIM:603041
HP:0004352	Abnormal circulating purine concentration	7498	XDH	OMIM:278300
HP:0004352	Abnormal circulating purine concentration	55034	MOCOS	OMIM:603592
HP:0004352	Abnormal circulating purine concentration	4860	PNP	OMIM:613179
HP:0011675	Arrhythmia	131118	DNAJC19	OMIM:610198
HP:0011675	Arrhythmia	3949	LDLR	ORPHA:391665
HP:0011675	Arrhythmia	255738	PCSK9	ORPHA:391665
HP:0011675	Arrhythmia	26119	LDLRAP1	ORPHA:391665
HP:0011675	Arrhythmia	338	APOB	ORPHA:391665
HP:0011675	Arrhythmia	64240	ABCG5	ORPHA:391665
HP:0011675	Arrhythmia	64241	ABCG8	ORPHA:391665
HP:0011675	Arrhythmia	10320	IKZF1	ORPHA:36426
HP:0011675	Arrhythmia	2070	EYA4	OMIM:605362
HP:0011675	Arrhythmia	2771	GNAI2	OMIM:192605
HP:0011675	Arrhythmia	28976	ACAD9	ORPHA:99901
HP:0011675	Arrhythmia	1804	DPP6	OMIM:612956
HP:0011675	Arrhythmia	6804	STX1A	ORPHA:904
HP:0011675	Arrhythmia	7461	CLIP2	ORPHA:904
HP:0011675	Arrhythmia	8468	FKBP6	ORPHA:904
HP:0011675	Arrhythmia	5982	RFC2	ORPHA:904
HP:0011675	Arrhythmia	2969	GTF2I	ORPHA:904
HP:0011675	Arrhythmia	3984	LIMK1	ORPHA:904
HP:0011675	Arrhythmia	9569	GTF2IRD1	ORPHA:904
HP:0011675	Arrhythmia	155382	VPS37D	ORPHA:904
HP:0011675	Arrhythmia	155368	METTL27	ORPHA:904
HP:0011675	Arrhythmia	114049	BUD23	ORPHA:904
HP:0011675	Arrhythmia	7458	EIF4H	ORPHA:904
HP:0011675	Arrhythmia	84163	GTF2IRD2	ORPHA:904
HP:0011675	Arrhythmia	26608	TBL2	ORPHA:904
HP:0011675	Arrhythmia	653361	NCF1	ORPHA:904
HP:0011675	Arrhythmia	135886	TMEM270	ORPHA:904
HP:0011675	Arrhythmia	9031	BAZ1B	ORPHA:904
HP:0011675	Arrhythmia	4040	LRP6	OMIM:610947
HP:0011675	Arrhythmia	207	AKT1	ORPHA:744
HP:0011675	Arrhythmia	80206	FHOD3	OMIM:619402
HP:0011675	Arrhythmia	26154	ABCA12	ORPHA:457
HP:0011675	Arrhythmia	23529	CLCF1	ORPHA:1545
HP:0011675	Arrhythmia	9244	CRLF1	ORPHA:1545
HP:0011675	Arrhythmia	5167	ENPP1	ORPHA:758
HP:0011675	Arrhythmia	368	ABCC6	ORPHA:758
HP:0011675	Arrhythmia	8518	ELP1	OMIM:223900
HP:0011675	Arrhythmia	8518	ELP1	ORPHA:1764
HP:0011675	Arrhythmia	6899	TBX1	ORPHA:3384
HP:0011675	Arrhythmia	137814	NKX2-6	ORPHA:3384
HP:0011675	Arrhythmia	23129	PLXND1	ORPHA:3384
HP:0011675	Arrhythmia	6390	SDHB	OMIM:115310
HP:0011675	Arrhythmia	55654	TMEM127	OMIM:171300
HP:0011675	Arrhythmia	4149	MAX	OMIM:171300
HP:0011675	Arrhythmia	5979	RET	OMIM:171300
HP:0011675	Arrhythmia	171023	ASXL1	ORPHA:98849
HP:0011675	Arrhythmia	54790	TET2	ORPHA:98849
HP:0011675	Arrhythmia	3815	KIT	ORPHA:98849
HP:0011675	Arrhythmia	6427	SRSF2	ORPHA:98849
HP:0011675	Arrhythmia	7555	CNBP	OMIM:602668
HP:0011675	Arrhythmia	5498	PPOX	OMIM:176200
HP:0011675	Arrhythmia	5498	PPOX	ORPHA:79473
HP:0011675	Arrhythmia	6833	ABCC8	ORPHA:276575
HP:0011675	Arrhythmia	6391	SDHC	OMIM:605373
HP:0011675	Arrhythmia	3767	KCNJ11	ORPHA:276580
HP:0011675	Arrhythmia	8029	CUBN	ORPHA:35858
HP:0011675	Arrhythmia	81693	AMN	ORPHA:35858
HP:0011675	Arrhythmia	65082	VPS33A	ORPHA:505248
HP:0011675	Arrhythmia	1439	CSF2RB	ORPHA:264675
HP:0011675	Arrhythmia	1438	CSF2RA	ORPHA:264675
HP:0011675	Arrhythmia	9692	PRORP	OMIM:619737
HP:0011675	Arrhythmia	1889	ECE1	OMIM:613870
HP:0011675	Arrhythmia	100134444	KCNJ18	OMIM:613239
HP:0011675	Arrhythmia	3172	HNF4A	ORPHA:263455
HP:0011675	Arrhythmia	7253	TSHR	OMIM:609152
HP:0011675	Arrhythmia	7253	TSHR	OMIM:603373
HP:0011675	Arrhythmia	51086	TNNI3K	OMIM:616117
HP:0011675	Arrhythmia	6392	SDHD	OMIM:168000
HP:0011675	Arrhythmia	2328	FMO3	OMIM:602079
HP:0011675	Arrhythmia	6335	SCN9A	OMIM:167400
HP:0011675	Arrhythmia	2203	FBP1	ORPHA:348
HP:0011675	Arrhythmia	2203	FBP1	OMIM:229700
HP:0011675	Arrhythmia	5621	PRNP	ORPHA:466
HP:0011675	Arrhythmia	374879	ZNF699	OMIM:619488
HP:0011675	Arrhythmia	3145	HMBS	OMIM:176000
HP:0011675	Arrhythmia	3145	HMBS	ORPHA:79276
HP:0011675	Arrhythmia	6261	RYR1	OMIM:145600
HP:0011675	Arrhythmia	745	MYRF	OMIM:618280
HP:0011675	Arrhythmia	23630	KCNE5	ORPHA:130
HP:0011675	Arrhythmia	10371	SEMA3A	ORPHA:130
HP:0011675	Arrhythmia	10021	HCN4	ORPHA:130
HP:0011675	Arrhythmia	3764	KCNJ8	ORPHA:130
HP:0011675	Arrhythmia	3752	KCND3	ORPHA:130
HP:0011675	Arrhythmia	5318	PKP2	ORPHA:130
HP:0011675	Arrhythmia	7871	SLMAP	ORPHA:130
HP:0011675	Arrhythmia	29098	RANGRF	ORPHA:130
HP:0011675	Arrhythmia	6336	SCN10A	ORPHA:130
HP:0011675	Arrhythmia	55800	SCN3B	ORPHA:130
HP:0011675	Arrhythmia	10142	AKAP9	ORPHA:130
HP:0011675	Arrhythmia	783	CACNB2	ORPHA:130
HP:0011675	Arrhythmia	6327	SCN2B	ORPHA:130
HP:0011675	Arrhythmia	781	CACNA2D1	ORPHA:130
HP:0011675	Arrhythmia	775	CACNA1C	ORPHA:130
HP:0011675	Arrhythmia	23171	GPD1L	ORPHA:130
HP:0011675	Arrhythmia	6440	SFTPC	ORPHA:685082
HP:0011675	Arrhythmia	21	ABCA3	ORPHA:685082
HP:0011675	Arrhythmia	6439	SFTPB	ORPHA:685082
HP:0011675	Arrhythmia	55739	NAXD	OMIM:618321
HP:0011675	Arrhythmia	5236	PGM1	OMIM:614921
HP:0011675	Arrhythmia	1371	CPOX	OMIM:121300
HP:0011675	Arrhythmia	1371	CPOX	ORPHA:79273
HP:0011675	Arrhythmia	5837	PYGM	ORPHA:368
HP:0011675	Arrhythmia	6927	HNF1A	ORPHA:324575
HP:0011675	Arrhythmia	667	DST	OMIM:614653
HP:0011675	Arrhythmia	7068	THRB	ORPHA:566243
HP:0011675	Arrhythmia	6736	SRY	ORPHA:1772
HP:0011675	Arrhythmia	284119	CAVIN1	OMIM:613327
HP:0011675	Arrhythmia	7351	UCP2	ORPHA:276556
HP:0011675	Arrhythmia	8942	KYNU	ORPHA:79155
HP:0011675	Arrhythmia	5052	PRDX1	OMIM:277400
HP:0011675	Arrhythmia	25974	MMACHC	OMIM:277400
HP:0011675	Arrhythmia	6005	RHAG	ORPHA:71275
HP:0011675	Arrhythmia	6006	RHCE	ORPHA:71275
HP:0011675	Arrhythmia	6007	RHD	ORPHA:71275
HP:0011675	Arrhythmia	4702	NDUFA8	OMIM:619272
HP:0011675	Arrhythmia	9997	SCO2	OMIM:604377
HP:0011675	Arrhythmia	51422	PRKAG2	OMIM:261740
HP:0011675	Arrhythmia	151648	SGO1	OMIM:616201
HP:0011675	Arrhythmia	808	CALM3	OMIM:618782
HP:0011675	Arrhythmia	805	CALM2	OMIM:616249
HP:0011675	Arrhythmia	5626	PROP1	ORPHA:226307
HP:0011675	Arrhythmia	89884	LHX4	ORPHA:226307
HP:0011675	Arrhythmia	8022	LHX3	ORPHA:226307
HP:0011675	Arrhythmia	5449	POU1F1	ORPHA:226307
HP:0011675	Arrhythmia	8820	HESX1	ORPHA:226307
HP:0011675	Arrhythmia	2632	GBE1	OMIM:232500
HP:0011675	Arrhythmia	79188	TMEM43	OMIM:614302
HP:0011675	Arrhythmia	3458	IFNG	OMIM:613254
HP:0011675	Arrhythmia	7249	TSC2	OMIM:613254
HP:0011675	Arrhythmia	25821	MTO1	OMIM:614702
HP:0011675	Arrhythmia	58	ACTA1	OMIM:620265
HP:0011675	Arrhythmia	3909	LAMA3	ORPHA:79404
HP:0011675	Arrhythmia	3918	LAMC2	ORPHA:79404
HP:0011675	Arrhythmia	3914	LAMB3	ORPHA:79404
HP:0011675	Arrhythmia	7849	PAX8	OMIM:218700
HP:0011675	Arrhythmia	6341	SCO1	OMIM:619048
HP:0011675	Arrhythmia	4695	NDUFA2	OMIM:618235
HP:0011675	Arrhythmia	51601	LIPT1	OMIM:616299
HP:0011675	Arrhythmia	27068	PPA2	OMIM:617222
HP:0011675	Arrhythmia	30008	EFEMP2	OMIM:614437
HP:0011675	Arrhythmia	7252	TSHB	ORPHA:90674
HP:0011675	Arrhythmia	95	ACY1	OMIM:609924
HP:0011675	Arrhythmia	84340	GFM2	ORPHA:565624
HP:0011675	Arrhythmia	11274	USP18	OMIM:617397
HP:0011675	Arrhythmia	2902	GRIN1	OMIM:619814
HP:0011675	Arrhythmia	405753	DUOXA2	ORPHA:95716
HP:0011675	Arrhythmia	6528	SLC5A5	ORPHA:95716
HP:0011675	Arrhythmia	7038	TG	ORPHA:95716
HP:0011675	Arrhythmia	7173	TPO	ORPHA:95716
HP:0011675	Arrhythmia	389434	IYD	ORPHA:95716
HP:0011675	Arrhythmia	50506	DUOX2	ORPHA:95716
HP:0011675	Arrhythmia	4358	MPV17	OMIM:256810
HP:0011675	Arrhythmia	845	CASQ2	OMIM:611938
HP:0011675	Arrhythmia	4635	MYL4	OMIM:617280
HP:0011675	Arrhythmia	7386	UQCRFS1	OMIM:618775
HP:0011675	Arrhythmia	1892	ECHS1	OMIM:616277
HP:0011675	Arrhythmia	132158	GLYCTK	OMIM:220120
HP:0011675	Arrhythmia	51117	COQ4	OMIM:616276
HP:0011675	Arrhythmia	57017	COQ9	OMIM:614654
HP:0011675	Arrhythmia	776	CACNA1D	OMIM:614896
HP:0011675	Arrhythmia	27429	HTRA2	OMIM:617248
HP:0011675	Arrhythmia	221927	BRAT1	OMIM:614498
HP:0011675	Arrhythmia	2752	GLUL	OMIM:610015
HP:0011675	Arrhythmia	3759	KCNJ2	ORPHA:51083
HP:0011675	Arrhythmia	3757	KCNH2	ORPHA:51083
HP:0011675	Arrhythmia	6508	SLC4A3	ORPHA:51083
HP:0011675	Arrhythmia	1717	DHCR7	OMIM:270400
HP:0011675	Arrhythmia	283446	MYO1H	OMIM:619482
HP:0011675	Arrhythmia	341208	HEPHL1	OMIM:261990
HP:0011675	Arrhythmia	2783	GNB2	OMIM:619464
HP:0011675	Arrhythmia	3155	HMGCL	ORPHA:20
HP:0011675	Arrhythmia	3155	HMGCL	OMIM:246450
HP:0011675	Arrhythmia	9992	KCNE2	OMIM:613693
HP:0011675	Arrhythmia	253017	TECRL	OMIM:614021
HP:0011675	Arrhythmia	253017	TECRL	ORPHA:3286
HP:0011675	Arrhythmia	1861	TOR1A	OMIM:618947
HP:0011675	Arrhythmia	801	CALM1	OMIM:616247
HP:0011675	Arrhythmia	801	CALM1	OMIM:614916
HP:0011675	Arrhythmia	801	CALM1	ORPHA:3286
HP:0011675	Arrhythmia	81031	SLC2A10	ORPHA:3342
HP:0011675	Arrhythmia	6182	MRPL12	OMIM:618951
HP:0011675	Arrhythmia	10345	TRDN	OMIM:615441
HP:0011675	Arrhythmia	10345	TRDN	ORPHA:3286
HP:0011675	Arrhythmia	25782	RAB3GAP2	OMIM:212720
HP:0011675	Arrhythmia	79989	IFT56	OMIM:619534
HP:0011675	Arrhythmia	708	C1QBP	OMIM:617713
HP:0011675	Arrhythmia	6262	RYR2	ORPHA:3286
HP:0011675	Arrhythmia	4634	MYL3	OMIM:608751
HP:0011675	Arrhythmia	54675	CRLS1	OMIM:620167
HP:0011675	Arrhythmia	55750	AGK	OMIM:212350
HP:0011675	Arrhythmia	57538	ALPK3	OMIM:618052
HP:0011675	Arrhythmia	2629	GBA1	ORPHA:77260
HP:0011675	Arrhythmia	5277	PIGA	OMIM:300868
HP:0011675	Arrhythmia	7046	TGFBR1	ORPHA:60030
HP:0011675	Arrhythmia	10526	IPO8	ORPHA:60030
HP:0011675	Arrhythmia	7048	TGFBR2	ORPHA:60030
HP:0011675	Arrhythmia	7042	TGFB2	ORPHA:60030
HP:0011675	Arrhythmia	7043	TGFB3	ORPHA:60030
HP:0011675	Arrhythmia	4087	SMAD2	ORPHA:60030
HP:0011675	Arrhythmia	4088	SMAD3	ORPHA:60030
HP:0011675	Arrhythmia	3762	KCNJ5	OMIM:613485
HP:0011675	Arrhythmia	144245	ALG10B	OMIM:613688
HP:0011675	Arrhythmia	4564	MT-TH	ORPHA:550
HP:0011675	Arrhythmia	51103	NDUFAF1	OMIM:618234
HP:0011675	Arrhythmia	63931	MRPS14	OMIM:618378
HP:0011675	Arrhythmia	3714	JAG2	OMIM:619566
HP:0011675	Arrhythmia	96459	FNIP1	OMIM:619705
HP:0011675	Arrhythmia	7248	TSC1	OMIM:191100
HP:0011675	Arrhythmia	123263	MTFMT	OMIM:614947
HP:0011675	Arrhythmia	3741	KCNA5	OMIM:612240
HP:0011675	Arrhythmia	3741	KCNA5	ORPHA:334
HP:0011675	Arrhythmia	1837	DTNA	OMIM:604169
HP:0011675	Arrhythmia	1824	DSC2	OMIM:610476
HP:0011675	Arrhythmia	2702	GJA5	ORPHA:334
HP:0011675	Arrhythmia	3760	KCNJ3	ORPHA:334
HP:0011675	Arrhythmia	5308	PITX2	ORPHA:334
HP:0011675	Arrhythmia	140628	GATA5	ORPHA:334
HP:0011675	Arrhythmia	6330	SCN4B	ORPHA:334
HP:0011675	Arrhythmia	9631	NUP155	ORPHA:334
HP:0011675	Arrhythmia	4633	MYL2	OMIM:608758
HP:0011675	Arrhythmia	2642	GCGR	OMIM:619290
HP:0011675	Arrhythmia	1000	CDH2	OMIM:618920
HP:0011675	Arrhythmia	1788	DNMT3A	ORPHA:276621
HP:0011675	Arrhythmia	2034	EPAS1	ORPHA:276621
HP:0011675	Arrhythmia	2010	EMD	OMIM:310300
HP:0011675	Arrhythmia	84133	ZNRF3	ORPHA:1501
HP:0011675	Arrhythmia	7157	TP53	ORPHA:1501
HP:0011675	Arrhythmia	5573	PRKAR1A	ORPHA:1501
HP:0011675	Arrhythmia	1499	CTNNB1	ORPHA:1501
HP:0011675	Arrhythmia	1029	CDKN2A	ORPHA:1501
HP:0011675	Arrhythmia	7015	TERT	ORPHA:1501
HP:0011675	Arrhythmia	55863	TMEM126B	OMIM:618250
HP:0011675	Arrhythmia	64072	CDH23	ORPHA:91347
HP:0011675	Arrhythmia	1743	DLST	ORPHA:29072
HP:0011675	Arrhythmia	4191	MDH2	ORPHA:29072
HP:0011675	Arrhythmia	23095	KIF1B	ORPHA:29072
HP:0011675	Arrhythmia	2271	FH	ORPHA:29072
HP:0011675	Arrhythmia	8402	SLC25A11	ORPHA:29072
HP:0011675	Arrhythmia	54949	SDHAF2	ORPHA:29072
HP:0011675	Arrhythmia	4763	NF1	ORPHA:29072
HP:0011675	Arrhythmia	4221	MEN1	ORPHA:97279
HP:0011675	Arrhythmia	7528	YY1	ORPHA:97279
HP:0011675	Arrhythmia	171019	ADAMTS19	OMIM:620067
HP:0011675	Arrhythmia	2556	GABRA3	ORPHA:79102
HP:0011675	Arrhythmia	11149	POPDC1	OMIM:616812
HP:0011675	Arrhythmia	54800	KLHL24	OMIM:620236
HP:0011675	Arrhythmia	51778	MYOZ2	OMIM:613838
HP:0011675	Arrhythmia	23479	ISCU	OMIM:255125
HP:0011675	Arrhythmia	546	ATRX	ORPHA:100075
HP:0011675	Arrhythmia	6559	SLC12A3	OMIM:263800
HP:0011675	Arrhythmia	6559	SLC12A3	ORPHA:358
HP:0011675	Arrhythmia	1188	CLCNKB	ORPHA:358
HP:0011675	Arrhythmia	6910	TBX5	ORPHA:101016
HP:0011675	Arrhythmia	9722	NOS1AP	ORPHA:101016
HP:0011675	Arrhythmia	6640	SNTA1	ORPHA:101016
HP:0011675	Arrhythmia	287	ANK2	ORPHA:101016
HP:0011675	Arrhythmia	60	ACTB	OMIM:620475
HP:0011675	Arrhythmia	1193	CLIC2	ORPHA:324410
HP:0011675	Arrhythmia	3777	KCNK3	OMIM:615344
HP:0011675	Arrhythmia	826	CAPNS1	OMIM:620777
HP:0011675	Arrhythmia	10699	CORIN	OMIM:620734
HP:0011675	Arrhythmia	1760	DMPK	OMIM:160900
HP:0011675	Arrhythmia	284252	KCTD1	OMIM:181270
HP:0011675	Arrhythmia	80308	FLAD1	OMIM:255100
HP:0011675	Arrhythmia	3920	LAMP2	OMIM:300257
HP:0011675	Arrhythmia	10848	PPP1R13L	OMIM:620519
HP:0011675	Arrhythmia	29119	CTNNA3	OMIM:615616
HP:0011675	Arrhythmia	29967	LRP12	OMIM:164310
HP:0011675	Arrhythmia	23118	TAB2	OMIM:614980
HP:0011675	Arrhythmia	463	ZFHX3	OMIM:613055
HP:0011675	Arrhythmia	8076	MFAP5	OMIM:616166
HP:0011675	Arrhythmia	7504	XK	OMIM:300842
HP:0011675	Arrhythmia	353	APRT	ORPHA:976
HP:0011675	Arrhythmia	1621	DBH	OMIM:223360
HP:0011675	Arrhythmia	25792	CIZ1	ORPHA:420492
HP:0011675	Arrhythmia	1282	COL4A1	OMIM:611773
HP:0011675	Arrhythmia	2318	FLNC	ORPHA:75249
HP:0011675	Arrhythmia	10112	KIF20A	ORPHA:75249
HP:0011675	Arrhythmia	22947	DUX4L1	ORPHA:269
HP:0011675	Arrhythmia	1789	DNMT3B	ORPHA:269
HP:0011675	Arrhythmia	2483	FRG1	ORPHA:269
HP:0011675	Arrhythmia	23347	SMCHD1	ORPHA:269
HP:0011675	Arrhythmia	100288687	DUX4	ORPHA:269
HP:0011675	Arrhythmia	23345	SYNE1	ORPHA:98853
HP:0011675	Arrhythmia	161742	SPRED1	ORPHA:137605
HP:0011675	Arrhythmia	4784	NFIX	OMIM:602535
HP:0011675	Arrhythmia	26092	TOR1AIP1	OMIM:617072
HP:0011675	Arrhythmia	9681	DEPDC5	OMIM:620504
HP:0011675	Arrhythmia	83475	DOHH	OMIM:620066
HP:0011675	Arrhythmia	1374	CPT1A	ORPHA:156
HP:0011675	Arrhythmia	1374	CPT1A	OMIM:255120
HP:0011675	Arrhythmia	26191	PTPN22	ORPHA:397
HP:0011675	Arrhythmia	26191	PTPN22	ORPHA:900
HP:0011675	Arrhythmia	3106	HLA-B	ORPHA:397
HP:0011675	Arrhythmia	3106	HLA-B	OMIM:106300
HP:0011675	Arrhythmia	3123	HLA-DRB1	ORPHA:397
HP:0011675	Arrhythmia	3123	HLA-DRB1	ORPHA:797
HP:0011675	Arrhythmia	8974	P4HA2	ORPHA:397
HP:0011675	Arrhythmia	6389	SDHA	ORPHA:154
HP:0011675	Arrhythmia	10486	CAP2	ORPHA:154
HP:0011675	Arrhythmia	7716	VEZF1	ORPHA:154
HP:0011675	Arrhythmia	10060	ABCC9	ORPHA:154
HP:0011675	Arrhythmia	7168	TPM1	ORPHA:154
HP:0011675	Arrhythmia	27063	ANKRD1	ORPHA:154
HP:0011675	Arrhythmia	1410	CRYAB	ORPHA:154
HP:0011675	Arrhythmia	439	GET3	ORPHA:154
HP:0011675	Arrhythmia	7273	TTN	ORPHA:154
HP:0011675	Arrhythmia	7273	TTN	OMIM:611705
HP:0011675	Arrhythmia	5350	PLN	ORPHA:154
HP:0011675	Arrhythmia	5664	PSEN2	ORPHA:154
HP:0011675	Arrhythmia	9529	BAG5	ORPHA:154
HP:0011675	Arrhythmia	4607	MYBPC3	ORPHA:154
HP:0011675	Arrhythmia	11155	LDB3	ORPHA:154
HP:0011675	Arrhythmia	2274	FHL2	ORPHA:154
HP:0011675	Arrhythmia	1756	DMD	ORPHA:154
HP:0011675	Arrhythmia	1756	DMD	OMIM:310200
HP:0011675	Arrhythmia	1756	DMD	OMIM:300376
HP:0011675	Arrhythmia	84665	MYPN	ORPHA:154
HP:0011675	Arrhythmia	1674	DES	ORPHA:154
HP:0011675	Arrhythmia	442721	LMOD2	ORPHA:154
HP:0011675	Arrhythmia	8557	TCAP	ORPHA:154
HP:0011675	Arrhythmia	57158	JPH2	ORPHA:154
HP:0011675	Arrhythmia	9015	TAF1A	ORPHA:154
HP:0011675	Arrhythmia	5663	PSEN1	ORPHA:154
HP:0011675	Arrhythmia	7112	TMPO	ORPHA:154
HP:0011675	Arrhythmia	9464	HAND2	ORPHA:154
HP:0011675	Arrhythmia	4625	MYH7	ORPHA:154
HP:0011675	Arrhythmia	4625	MYH7	ORPHA:1880
HP:0011675	Arrhythmia	4625	MYH7	OMIM:192600
HP:0011675	Arrhythmia	88	ACTN2	ORPHA:154
HP:0011675	Arrhythmia	7414	VCL	ORPHA:154
HP:0011675	Arrhythmia	1832	DSP	ORPHA:154
HP:0011675	Arrhythmia	70	ACTC1	ORPHA:154
HP:0011675	Arrhythmia	70	ACTC1	ORPHA:99103
HP:0011675	Arrhythmia	6123	RPL3L	ORPHA:154
HP:0011675	Arrhythmia	8048	CSRP3	ORPHA:154
HP:0011675	Arrhythmia	4000	LMNA	ORPHA:154
HP:0011675	Arrhythmia	4000	LMNA	OMIM:181350
HP:0011675	Arrhythmia	4000	LMNA	ORPHA:157973
HP:0011675	Arrhythmia	4000	LMNA	OMIM:616516
HP:0011675	Arrhythmia	4000	LMNA	ORPHA:168796
HP:0011675	Arrhythmia	7139	TNNT2	ORPHA:154
HP:0011675	Arrhythmia	1829	DSG2	ORPHA:154
HP:0011675	Arrhythmia	3910	LAMA4	ORPHA:154
HP:0011675	Arrhythmia	63976	PRDM16	ORPHA:154
HP:0011675	Arrhythmia	63976	PRDM16	OMIM:615373
HP:0011675	Arrhythmia	10587	TXNRD2	ORPHA:154
HP:0011675	Arrhythmia	9531	BAG3	ORPHA:154
HP:0011675	Arrhythmia	91624	NEXN	ORPHA:154
HP:0011675	Arrhythmia	79717	PPCS	ORPHA:154
HP:0011675	Arrhythmia	4624	MYH6	ORPHA:154
HP:0011675	Arrhythmia	4624	MYH6	OMIM:192600
HP:0011675	Arrhythmia	4624	MYH6	ORPHA:99103
HP:0011675	Arrhythmia	282996	RBM20	ORPHA:154
HP:0011675	Arrhythmia	7137	TNNI3	ORPHA:154
HP:0011675	Arrhythmia	6901	TAFAZZIN	ORPHA:154
HP:0011675	Arrhythmia	6901	TAFAZZIN	OMIM:302060
HP:0011675	Arrhythmia	22845	DOLK	ORPHA:154
HP:0011675	Arrhythmia	22845	DOLK	ORPHA:91131
HP:0011675	Arrhythmia	5894	RAF1	ORPHA:154
HP:0011675	Arrhythmia	5894	RAF1	OMIM:611553
HP:0011675	Arrhythmia	5894	RAF1	ORPHA:500
HP:0011675	Arrhythmia	5894	RAF1	ORPHA:648
HP:0011675	Arrhythmia	57798	GATAD1	ORPHA:154
HP:0011675	Arrhythmia	7134	TNNC1	ORPHA:154
HP:0011675	Arrhythmia	6444	SGCD	ORPHA:154
HP:0011675	Arrhythmia	6331	SCN5A	ORPHA:154
HP:0011675	Arrhythmia	6331	SCN5A	ORPHA:1344
HP:0011675	Arrhythmia	6331	SCN5A	ORPHA:871
HP:0011675	Arrhythmia	2218	FKTN	ORPHA:154
HP:0011675	Arrhythmia	26235	FBXL4	OMIM:615471
HP:0011675	Arrhythmia	7148	TNXB	ORPHA:230839
HP:0011675	Arrhythmia	652	BMP4	ORPHA:828
HP:0011675	Arrhythmia	148738	HJV	OMIM:602390
HP:0011675	Arrhythmia	54968	TMEM70	ORPHA:1194
HP:0011675	Arrhythmia	54968	TMEM70	OMIM:614052
HP:0011675	Arrhythmia	2314	FLII	ORPHA:819
HP:0011675	Arrhythmia	23096	IQSEC2	ORPHA:819
HP:0011675	Arrhythmia	10743	RAI1	ORPHA:819
HP:0011675	Arrhythmia	10522	DEAF1	ORPHA:819
HP:0011675	Arrhythmia	23384	SPECC1L	ORPHA:1519
HP:0011675	Arrhythmia	1161	ERCC8	OMIM:216400
HP:0011675	Arrhythmia	30061	SLC40A1	OMIM:606069
HP:0011675	Arrhythmia	3908	LAMA2	ORPHA:258
HP:0011675	Arrhythmia	6926	TBX3	ORPHA:3138
HP:0011675	Arrhythmia	6926	TBX3	OMIM:181450
HP:0011675	Arrhythmia	54795	TRPM4	OMIM:604559
HP:0011675	Arrhythmia	54795	TRPM4	OMIM:618531
HP:0011675	Arrhythmia	54795	TRPM4	ORPHA:871
HP:0011675	Arrhythmia	7259	TSPYL1	ORPHA:168593
HP:0011675	Arrhythmia	4574	MT-TS1	OMIM:540000
HP:0011675	Arrhythmia	4575	MT-TS2	OMIM:540000
HP:0011675	Arrhythmia	4535	MT-ND1	OMIM:540000
HP:0011675	Arrhythmia	4535	MT-ND1	ORPHA:104
HP:0011675	Arrhythmia	4535	MT-ND1	OMIM:535000
HP:0011675	Arrhythmia	4567	MT-TL1	OMIM:540000
HP:0011675	Arrhythmia	4512	MT-CO1	OMIM:540000
HP:0011675	Arrhythmia	4512	MT-CO1	ORPHA:104
HP:0011675	Arrhythmia	4512	MT-CO1	ORPHA:99845
HP:0011675	Arrhythmia	4513	MT-CO2	OMIM:540000
HP:0011675	Arrhythmia	4514	MT-CO3	OMIM:540000
HP:0011675	Arrhythmia	4514	MT-CO3	ORPHA:104
HP:0011675	Arrhythmia	4514	MT-CO3	ORPHA:99845
HP:0011675	Arrhythmia	4514	MT-CO3	OMIM:535000
HP:0011675	Arrhythmia	4519	MT-CYB	OMIM:540000
HP:0011675	Arrhythmia	4519	MT-CYB	ORPHA:104
HP:0011675	Arrhythmia	4519	MT-CYB	OMIM:535000
HP:0011675	Arrhythmia	4511	MT-TC	OMIM:540000
HP:0011675	Arrhythmia	4572	MT-TQ	OMIM:540000
HP:0011675	Arrhythmia	4577	MT-TV	OMIM:540000
HP:0011675	Arrhythmia	4578	MT-TW	OMIM:540000
HP:0011675	Arrhythmia	4558	MT-TF	OMIM:540000
HP:0011675	Arrhythmia	4566	MT-TK	OMIM:540000
HP:0011675	Arrhythmia	4540	MT-ND5	OMIM:540000
HP:0011675	Arrhythmia	4540	MT-ND5	ORPHA:104
HP:0011675	Arrhythmia	4540	MT-ND5	OMIM:535000
HP:0011675	Arrhythmia	4541	MT-ND6	OMIM:540000
HP:0011675	Arrhythmia	4541	MT-ND6	ORPHA:104
HP:0011675	Arrhythmia	4541	MT-ND6	OMIM:535000
HP:0011675	Arrhythmia	2273	FHL1	OMIM:300696
HP:0011675	Arrhythmia	8929	PHOX2B	ORPHA:2151
HP:0011675	Arrhythmia	4509	MT-ATP8	ORPHA:254913
HP:0011675	Arrhythmia	514	ATP5F1E	ORPHA:254913
HP:0011675	Arrhythmia	513	ATP5F1D	ORPHA:254913
HP:0011675	Arrhythmia	498	ATP5F1A	ORPHA:254913
HP:0011675	Arrhythmia	4508	MT-ATP6	ORPHA:254913
HP:0011675	Arrhythmia	4508	MT-ATP6	ORPHA:104
HP:0011675	Arrhythmia	4508	MT-ATP6	OMIM:535000
HP:0011675	Arrhythmia	84833	ATP5MK	ORPHA:254913
HP:0011675	Arrhythmia	91647	ATPAF2	ORPHA:254913
HP:0011675	Arrhythmia	3423	IDS	ORPHA:217085
HP:0011675	Arrhythmia	3423	IDS	ORPHA:217093
HP:0011675	Arrhythmia	83550	GPR101	ORPHA:963
HP:0011675	Arrhythmia	9049	AIP	ORPHA:963
HP:0011675	Arrhythmia	2697	GJA1	ORPHA:2710
HP:0011675	Arrhythmia	2697	GJA1	OMIM:164200
HP:0011675	Arrhythmia	222663	SCUBE3	OMIM:619184
HP:0011675	Arrhythmia	7274	TTPA	ORPHA:96
HP:0011675	Arrhythmia	2992	GYG1	ORPHA:263297
HP:0011675	Arrhythmia	7156	TOP3A	OMIM:618098
HP:0011675	Arrhythmia	11232	POLG2	OMIM:610131
HP:0011675	Arrhythmia	11232	POLG2	ORPHA:254892
HP:0011675	Arrhythmia	221496	LEMD2	OMIM:212500
HP:0011675	Arrhythmia	3265	HRAS	OMIM:218040
HP:0011675	Arrhythmia	3265	HRAS	ORPHA:2874
HP:0011675	Arrhythmia	788	SLC25A20	ORPHA:159
HP:0011675	Arrhythmia	3043	HBB	ORPHA:231214
HP:0011675	Arrhythmia	3043	HBB	ORPHA:231226
HP:0011675	Arrhythmia	54539	NDUFB11	OMIM:309801
HP:0011675	Arrhythmia	54539	NDUFB11	ORPHA:2556
HP:0011675	Arrhythmia	1349	COX7B	OMIM:309801
HP:0011675	Arrhythmia	1349	COX7B	ORPHA:2556
HP:0011675	Arrhythmia	3052	HCCS	OMIM:309801
HP:0011675	Arrhythmia	3052	HCCS	ORPHA:2556
HP:0011675	Arrhythmia	5290	PIK3CA	ORPHA:60040
HP:0011675	Arrhythmia	7454	WAS	ORPHA:906
HP:0011675	Arrhythmia	7456	WIPF1	ORPHA:906
HP:0011675	Arrhythmia	773	CACNA1A	ORPHA:2131
HP:0011675	Arrhythmia	6507	SLC1A3	ORPHA:2131
HP:0011675	Arrhythmia	477	ATP1A2	ORPHA:2131
HP:0011675	Arrhythmia	478	ATP1A3	ORPHA:2131
HP:0011675	Arrhythmia	5189	PEX1	ORPHA:3220
HP:0011675	Arrhythmia	5189	PEX1	ORPHA:772
HP:0011675	Arrhythmia	5190	PEX6	ORPHA:3220
HP:0011675	Arrhythmia	5190	PEX6	ORPHA:772
HP:0011675	Arrhythmia	1493	CTLA4	ORPHA:900
HP:0011675	Arrhythmia	3115	HLA-DPB1	ORPHA:900
HP:0011675	Arrhythmia	5657	PRTN3	ORPHA:900
HP:0011675	Arrhythmia	3113	HLA-DPA1	ORPHA:900
HP:0011675	Arrhythmia	84277	DNAJC30	ORPHA:104
HP:0011675	Arrhythmia	4536	MT-ND2	ORPHA:104
HP:0011675	Arrhythmia	4536	MT-ND2	OMIM:535000
HP:0011675	Arrhythmia	4538	MT-ND4	ORPHA:104
HP:0011675	Arrhythmia	4538	MT-ND4	OMIM:535000
HP:0011675	Arrhythmia	4720	NDUFS2	ORPHA:104
HP:0011675	Arrhythmia	4539	MT-ND4L	ORPHA:104
HP:0011675	Arrhythmia	4539	MT-ND4L	OMIM:535000
HP:0011675	Arrhythmia	92667	MGME1	ORPHA:352447
HP:0011675	Arrhythmia	92667	MGME1	OMIM:615084
HP:0011675	Arrhythmia	4210	MEFV	ORPHA:342
HP:0011675	Arrhythmia	4247	MGAT2	ORPHA:79329
HP:0011675	Arrhythmia	7276	TTR	ORPHA:85447
HP:0011675	Arrhythmia	7276	TTR	ORPHA:85451
HP:0011675	Arrhythmia	2934	GSN	ORPHA:85448
HP:0011675	Arrhythmia	84033	OBSCN	ORPHA:99845
HP:0011675	Arrhythmia	23175	LPIN1	ORPHA:99845
HP:0011675	Arrhythmia	34	ACADM	ORPHA:42
HP:0011675	Arrhythmia	2717	GLA	OMIM:301500
HP:0011675	Arrhythmia	2717	GLA	ORPHA:324
HP:0011675	Arrhythmia	654	BMP6	ORPHA:465508
HP:0011675	Arrhythmia	3077	HFE	ORPHA:465508
HP:0011675	Arrhythmia	3077	HFE	OMIM:235200
HP:0011675	Arrhythmia	51567	TDP2	OMIM:616949
HP:0011675	Arrhythmia	2303	FOXC2	ORPHA:33001
HP:0011675	Arrhythmia	2303	FOXC2	OMIM:153400
HP:0011675	Arrhythmia	3339	HSPG2	ORPHA:800
HP:0011675	Arrhythmia	226	ALDOA	ORPHA:57
HP:0011675	Arrhythmia	26100	WIPI2	OMIM:618453
HP:0011675	Arrhythmia	2719	GPC3	OMIM:312870
HP:0011675	Arrhythmia	2239	GPC4	OMIM:312870
HP:0011675	Arrhythmia	54332	GDAP1	ORPHA:99944
HP:0011675	Arrhythmia	78987	CRELD1	OMIM:620771
HP:0011675	Arrhythmia	8260	NAA10	ORPHA:276432
HP:0011675	Arrhythmia	8260	NAA10	OMIM:300855
HP:0011675	Arrhythmia	2879	GPX4	OMIM:250220
HP:0011675	Arrhythmia	2879	GPX4	ORPHA:93317
HP:0011675	Arrhythmia	435	ASL	ORPHA:23
HP:0011675	Arrhythmia	291	SLC25A4	ORPHA:254892
HP:0011675	Arrhythmia	5428	POLG	ORPHA:254892
HP:0011675	Arrhythmia	56652	TWNK	ORPHA:254892
HP:0011675	Arrhythmia	56652	TWNK	OMIM:609286
HP:0011675	Arrhythmia	50484	RRM2B	ORPHA:254892
HP:0011675	Arrhythmia	2074	ERCC6	OMIM:133540
HP:0011675	Arrhythmia	2767	GNA11	ORPHA:428
HP:0011675	Arrhythmia	846	CASR	ORPHA:428
HP:0011675	Arrhythmia	5095	PCCA	ORPHA:35
HP:0011675	Arrhythmia	5096	PCCB	ORPHA:35
HP:0011675	Arrhythmia	3712	IVD	ORPHA:33
HP:0011675	Arrhythmia	3728	JUP	OMIM:601214
HP:0011675	Arrhythmia	3728	JUP	ORPHA:34217
HP:0011675	Arrhythmia	57104	PNPLA2	ORPHA:565612
HP:0011675	Arrhythmia	5191	PEX7	OMIM:266500
HP:0011675	Arrhythmia	5264	PHYH	OMIM:266500
HP:0011675	Arrhythmia	23586	RIGI	OMIM:616298
HP:0011675	Arrhythmia	1482	NKX2-5	ORPHA:1479
HP:0011675	Arrhythmia	1482	NKX2-5	ORPHA:871
HP:0011675	Arrhythmia	1482	NKX2-5	ORPHA:99103
HP:0011675	Arrhythmia	10560	SLC19A2	OMIM:249270
HP:0011675	Arrhythmia	4878	NPPA	ORPHA:1344
HP:0011675	Arrhythmia	267010	RNU12	OMIM:620208
HP:0011675	Arrhythmia	6663	SOX10	ORPHA:163746
HP:0011675	Arrhythmia	128989	TANGO2	ORPHA:480864
HP:0011675	Arrhythmia	2006	ELN	ORPHA:3193
HP:0011675	Arrhythmia	6329	SCN4A	ORPHA:682
HP:0011675	Arrhythmia	6329	SCN4A	ORPHA:681
HP:0011675	Arrhythmia	779	CACNA1S	ORPHA:681
HP:0011675	Arrhythmia	10008	KCNE3	ORPHA:681
HP:0011675	Arrhythmia	859	CAV3	OMIM:192600
HP:0011675	Arrhythmia	85366	MYLK2	OMIM:192600
HP:0011675	Arrhythmia	84705	GTPBP3	OMIM:616198
HP:0011675	Arrhythmia	57167	SALL4	ORPHA:2307
HP:0011675	Arrhythmia	56244	BTNL2	ORPHA:797
HP:0011675	Arrhythmia	650	BMP2	OMIM:235200
HP:0011675	Arrhythmia	650	BMP2	OMIM:617877
HP:0011675	Arrhythmia	6324	SCN1B	ORPHA:871
HP:0011675	Arrhythmia	7092	TLL1	ORPHA:99103
HP:0011675	Arrhythmia	57057	TBX20	ORPHA:99103
HP:0011675	Arrhythmia	10370	CITED2	ORPHA:99103
HP:0011675	Arrhythmia	2626	GATA4	ORPHA:99103
HP:0011675	Arrhythmia	2627	GATA6	ORPHA:99103
HP:0011675	Arrhythmia	3753	KCNE1	ORPHA:90647
HP:0011675	Arrhythmia	3784	KCNQ1	ORPHA:90647
HP:0011675	Arrhythmia	3032	HADHB	ORPHA:746
HP:0011675	Arrhythmia	3030	HADHA	ORPHA:746
HP:0011675	Arrhythmia	3030	HADHA	OMIM:609015
HP:0011675	Arrhythmia	5781	PTPN11	ORPHA:500
HP:0011675	Arrhythmia	5781	PTPN11	ORPHA:648
HP:0011675	Arrhythmia	673	BRAF	ORPHA:500
HP:0011675	Arrhythmia	2776	GNAQ	ORPHA:624
HP:0011675	Arrhythmia	6340	SCNN1G	ORPHA:171876
HP:0011675	Arrhythmia	6340	SCNN1G	ORPHA:526
HP:0011675	Arrhythmia	6337	SCNN1A	ORPHA:171876
HP:0011675	Arrhythmia	6337	SCNN1A	ORPHA:526
HP:0011675	Arrhythmia	6338	SCNN1B	ORPHA:171876
HP:0011675	Arrhythmia	6338	SCNN1B	ORPHA:526
HP:0011675	Arrhythmia	10681	GNB5	ORPHA:542306
HP:0011675	Arrhythmia	1180	CLCN1	ORPHA:614
HP:0011675	Arrhythmia	55670	PEX26	ORPHA:772
HP:0011675	Arrhythmia	5824	PEX19	ORPHA:772
HP:0011675	Arrhythmia	5828	PEX2	ORPHA:772
HP:0011675	Arrhythmia	8504	PEX3	ORPHA:772
HP:0011675	Arrhythmia	9409	PEX16	ORPHA:772
HP:0011675	Arrhythmia	8799	PEX11B	ORPHA:772
HP:0011675	Arrhythmia	5830	PEX5	ORPHA:772
HP:0011675	Arrhythmia	5193	PEX12	ORPHA:772
HP:0011675	Arrhythmia	5194	PEX13	ORPHA:772
HP:0011675	Arrhythmia	5195	PEX14	ORPHA:772
HP:0011675	Arrhythmia	5192	PEX10	ORPHA:772
HP:0011675	Arrhythmia	9759	HDAC4	OMIM:600430
HP:0011675	Arrhythmia	7428	VHL	ORPHA:892
HP:0011675	Arrhythmia	595	CCND1	ORPHA:892
HP:0011675	Arrhythmia	1376	CPT2	OMIM:608836
HP:0011675	Arrhythmia	1376	CPT2	ORPHA:228305
HP:0011675	Arrhythmia	1376	CPT2	ORPHA:228308
HP:0011675	Arrhythmia	22800	RRAS2	ORPHA:648
HP:0011675	Arrhythmia	867	CBL	ORPHA:648
HP:0011675	Arrhythmia	8216	LZTR1	ORPHA:648
HP:0011675	Arrhythmia	6016	RIT1	ORPHA:648
HP:0011675	Arrhythmia	6237	RRAS	ORPHA:648
HP:0011675	Arrhythmia	22808	MRAS	ORPHA:648
HP:0011675	Arrhythmia	3845	KRAS	ORPHA:648
HP:0011675	Arrhythmia	200734	SPRED2	ORPHA:648
HP:0011675	Arrhythmia	4893	NRAS	ORPHA:648
HP:0011675	Arrhythmia	6654	SOS1	ORPHA:648
HP:0011675	Arrhythmia	6655	SOS2	ORPHA:648
HP:0011675	Arrhythmia	5922	RASA2	ORPHA:648
HP:0011675	Arrhythmia	37	ACADVL	ORPHA:26793
HP:0011675	Arrhythmia	23224	SYNE2	OMIM:612999
HP:0011675	Arrhythmia	5696	PSMB8	OMIM:256040
HP:0011675	Arrhythmia	7169	TPM2	ORPHA:171881
HP:0011675	Arrhythmia	7170	TPM3	ORPHA:171881
HP:0011675	Arrhythmia	2548	GAA	OMIM:232300
HP:0011675	Arrhythmia	8815	BANF1	OMIM:614008
HP:0011675	Arrhythmia	411	ARSB	OMIM:253200
HP:0011675	Arrhythmia	2260	FGFR1	ORPHA:220386
HP:0011675	Arrhythmia	2260	FGFR1	ORPHA:93924
HP:0011675	Arrhythmia	28514	DLL1	ORPHA:220386
HP:0011675	Arrhythmia	28514	DLL1	ORPHA:93926
HP:0011675	Arrhythmia	28514	DLL1	ORPHA:93924
HP:0011675	Arrhythmia	28514	DLL1	ORPHA:93925
HP:0011675	Arrhythmia	10735	STAG2	ORPHA:220386
HP:0011675	Arrhythmia	10735	STAG2	ORPHA:93925
HP:0011675	Arrhythmia	2253	FGF8	ORPHA:220386
HP:0011675	Arrhythmia	2253	FGF8	ORPHA:93926
HP:0011675	Arrhythmia	2253	FGF8	ORPHA:93924
HP:0011675	Arrhythmia	2253	FGF8	ORPHA:93925
HP:0011675	Arrhythmia	8243	SMC1A	ORPHA:220386
HP:0011675	Arrhythmia	6496	SIX3	ORPHA:220386
HP:0011675	Arrhythmia	6496	SIX3	ORPHA:93926
HP:0011675	Arrhythmia	6496	SIX3	ORPHA:93924
HP:0011675	Arrhythmia	6496	SIX3	ORPHA:93925
HP:0011675	Arrhythmia	7050	TGIF1	ORPHA:220386
HP:0011675	Arrhythmia	7050	TGIF1	ORPHA:93926
HP:0011675	Arrhythmia	7050	TGIF1	ORPHA:93924
HP:0011675	Arrhythmia	7050	TGIF1	ORPHA:93925
HP:0011675	Arrhythmia	4838	NODAL	ORPHA:220386
HP:0011675	Arrhythmia	4838	NODAL	ORPHA:93926
HP:0011675	Arrhythmia	4838	NODAL	ORPHA:93924
HP:0011675	Arrhythmia	4838	NODAL	ORPHA:93925
HP:0011675	Arrhythmia	6469	SHH	ORPHA:220386
HP:0011675	Arrhythmia	6469	SHH	ORPHA:93926
HP:0011675	Arrhythmia	6469	SHH	ORPHA:93924
HP:0011675	Arrhythmia	6469	SHH	ORPHA:93925
HP:0011675	Arrhythmia	7546	ZIC2	ORPHA:220386
HP:0011675	Arrhythmia	7546	ZIC2	ORPHA:93926
HP:0011675	Arrhythmia	7546	ZIC2	ORPHA:93924
HP:0011675	Arrhythmia	7546	ZIC2	ORPHA:93925
HP:0011675	Arrhythmia	6491	STIL	ORPHA:220386
HP:0011675	Arrhythmia	6491	STIL	ORPHA:93926
HP:0011675	Arrhythmia	6491	STIL	ORPHA:93924
HP:0011675	Arrhythmia	6491	STIL	ORPHA:93925
HP:0011675	Arrhythmia	2619	GAS1	ORPHA:220386
HP:0011675	Arrhythmia	2619	GAS1	ORPHA:93926
HP:0011675	Arrhythmia	2619	GAS1	ORPHA:93924
HP:0011675	Arrhythmia	2619	GAS1	ORPHA:93925
HP:0011675	Arrhythmia	84976	DISP1	ORPHA:220386
HP:0011675	Arrhythmia	84976	DISP1	ORPHA:93926
HP:0011675	Arrhythmia	84976	DISP1	ORPHA:93924
HP:0011675	Arrhythmia	84976	DISP1	ORPHA:93925
HP:0011675	Arrhythmia	2736	GLI2	ORPHA:220386
HP:0011675	Arrhythmia	2736	GLI2	ORPHA:93926
HP:0011675	Arrhythmia	2736	GLI2	ORPHA:93924
HP:0011675	Arrhythmia	2736	GLI2	ORPHA:93925
HP:0011675	Arrhythmia	8928	FOXH1	ORPHA:220386
HP:0011675	Arrhythmia	8928	FOXH1	ORPHA:93926
HP:0011675	Arrhythmia	8928	FOXH1	ORPHA:93924
HP:0011675	Arrhythmia	8928	FOXH1	ORPHA:93925
HP:0011675	Arrhythmia	6997	CRIPTO	ORPHA:220386
HP:0011675	Arrhythmia	6997	CRIPTO	ORPHA:93926
HP:0011675	Arrhythmia	6997	CRIPTO	ORPHA:93924
HP:0011675	Arrhythmia	6997	CRIPTO	ORPHA:93925
HP:0011675	Arrhythmia	5727	PTCH1	ORPHA:220386
HP:0011675	Arrhythmia	5727	PTCH1	ORPHA:93926
HP:0011675	Arrhythmia	5727	PTCH1	ORPHA:93924
HP:0011675	Arrhythmia	5727	PTCH1	ORPHA:93925
HP:0011675	Arrhythmia	50937	CDON	ORPHA:220386
HP:0011675	Arrhythmia	50937	CDON	ORPHA:93926
HP:0011675	Arrhythmia	50937	CDON	ORPHA:93924
HP:0011675	Arrhythmia	50937	CDON	ORPHA:93925
HP:0011675	Arrhythmia	23007	PLCH1	ORPHA:93925
HP:0011675	Arrhythmia	2581	GALC	ORPHA:206436
HP:0011675	Arrhythmia	5660	PSAP	ORPHA:206436
HP:0011675	Arrhythmia	8567	MADD	OMIM:619004
HP:0011675	Arrhythmia	8567	MADD	OMIM:619005
HP:0004349	Reduced bone mineral density	144811	LACC1	ORPHA:85414
HP:0004349	Reduced bone mineral density	4282	MIF	ORPHA:85414
HP:0004349	Reduced bone mineral density	4282	MIF	ORPHA:586
HP:0004349	Reduced bone mineral density	3123	HLA-DRB1	ORPHA:85414
HP:0004349	Reduced bone mineral density	3569	IL6	ORPHA:85414
HP:0004349	Reduced bone mineral density	1763	DNA2	OMIM:620819
HP:0004349	Reduced bone mineral density	55503	TRPV6	OMIM:618188
HP:0004349	Reduced bone mineral density	8425	LTBP4	OMIM:613177
HP:0004349	Reduced bone mineral density	51126	NAA20	OMIM:619717
HP:0004349	Reduced bone mineral density	6938	TCF12	OMIM:619718
HP:0004349	Reduced bone mineral density	7355	SLC35A2	ORPHA:356961
HP:0004349	Reduced bone mineral density	673	BRAF	OMIM:115150
HP:0004349	Reduced bone mineral density	10973	ASCC3	OMIM:620700
HP:0004349	Reduced bone mineral density	118429	ANTXR2	ORPHA:2176
HP:0004349	Reduced bone mineral density	118429	ANTXR2	OMIM:228600
HP:0004349	Reduced bone mineral density	126792	B3GALT6	OMIM:609465
HP:0004349	Reduced bone mineral density	126792	B3GALT6	ORPHA:536467
HP:0004349	Reduced bone mineral density	126792	B3GALT6	OMIM:615349
HP:0004349	Reduced bone mineral density	91147	TMEM67	OMIM:602152
HP:0004349	Reduced bone mineral density	91147	TMEM67	ORPHA:140976
HP:0004349	Reduced bone mineral density	5352	PLOD2	OMIM:609220
HP:0004349	Reduced bone mineral density	3190	HNRNPK	ORPHA:453504
HP:0004349	Reduced bone mineral density	3190	HNRNPK	ORPHA:352665
HP:0004349	Reduced bone mineral density	4125	MAN2B1	ORPHA:309282
HP:0004349	Reduced bone mineral density	4125	MAN2B1	ORPHA:309288
HP:0004349	Reduced bone mineral density	4312	MMP1	ORPHA:79408
HP:0004349	Reduced bone mineral density	1294	COL7A1	ORPHA:79408
HP:0004349	Reduced bone mineral density	8443	GNPAT	OMIM:222765
HP:0004349	Reduced bone mineral density	2099	ESR1	OMIM:615363
HP:0004349	Reduced bone mineral density	2099	ESR1	ORPHA:785
HP:0004349	Reduced bone mineral density	64072	CDH23	ORPHA:2965
HP:0004349	Reduced bone mineral density	64072	CDH23	ORPHA:91347
HP:0004349	Reduced bone mineral density	9049	AIP	ORPHA:2965
HP:0004349	Reduced bone mineral density	2201	FBN2	OMIM:121050
HP:0004349	Reduced bone mineral density	50940	PDE11A	OMIM:610475
HP:0004349	Reduced bone mineral density	4882	NPR2	OMIM:615923
HP:0004349	Reduced bone mineral density	84634	KISS1R	OMIM:614837
HP:0004349	Reduced bone mineral density	84634	KISS1R	ORPHA:432
HP:0004349	Reduced bone mineral density	79158	GNPTAB	OMIM:252500
HP:0004349	Reduced bone mineral density	9382	COG1	OMIM:611209
HP:0004349	Reduced bone mineral density	9382	COG1	ORPHA:263508
HP:0004349	Reduced bone mineral density	79631	EFL1	ORPHA:811
HP:0004349	Reduced bone mineral density	51119	SBDS	ORPHA:811
HP:0004349	Reduced bone mineral density	64175	P3H1	OMIM:610915
HP:0004349	Reduced bone mineral density	7125	TNNC2	OMIM:620161
HP:0004349	Reduced bone mineral density	6772	STAT1	OMIM:614162
HP:0004349	Reduced bone mineral density	6772	STAT1	ORPHA:391487
HP:0004349	Reduced bone mineral density	2859	GPR35	ORPHA:171
HP:0004349	Reduced bone mineral density	10507	SEMA4D	ORPHA:171
HP:0004349	Reduced bone mineral density	4485	MST1	ORPHA:171
HP:0004349	Reduced bone mineral density	6925	TCF4	ORPHA:171
HP:0004349	Reduced bone mineral density	26277	TINF2	OMIM:613990
HP:0004349	Reduced bone mineral density	3899	AFF3	OMIM:619297
HP:0004349	Reduced bone mineral density	80204	FBXO11	OMIM:618089
HP:0004349	Reduced bone mineral density	23545	ATP6V0A2	ORPHA:2834
HP:0004349	Reduced bone mineral density	23545	ATP6V0A2	OMIM:278250
HP:0004349	Reduced bone mineral density	4853	NOTCH2	OMIM:102500
HP:0004349	Reduced bone mineral density	4853	NOTCH2	ORPHA:955
HP:0004349	Reduced bone mineral density	90993	CREB3L1	OMIM:616229
HP:0004349	Reduced bone mineral density	5573	PRKAR1A	OMIM:610489
HP:0004349	Reduced bone mineral density	4313	MMP2	ORPHA:371428
HP:0004349	Reduced bone mineral density	4313	MMP2	OMIM:259600
HP:0004349	Reduced bone mineral density	4323	MMP14	ORPHA:371428
HP:0004349	Reduced bone mineral density	1289	COL5A1	ORPHA:287
HP:0004349	Reduced bone mineral density	1290	COL5A2	ORPHA:287
HP:0004349	Reduced bone mineral density	10484	SEC23A	OMIM:607812
HP:0004349	Reduced bone mineral density	8726	EED	OMIM:617561
HP:0004349	Reduced bone mineral density	1028	CDKN1C	OMIM:614732
HP:0004349	Reduced bone mineral density	8642	DCHS1	OMIM:601390
HP:0004349	Reduced bone mineral density	8642	DCHS1	ORPHA:314679
HP:0004349	Reduced bone mineral density	4247	MGAT2	OMIM:212066
HP:0004349	Reduced bone mineral density	4247	MGAT2	ORPHA:79329
HP:0004349	Reduced bone mineral density	8517	IKBKG	ORPHA:98813
HP:0004349	Reduced bone mineral density	4792	NFKBIA	ORPHA:98813
HP:0004349	Reduced bone mineral density	165	AEBP1	ORPHA:536532
HP:0004349	Reduced bone mineral density	165	AEBP1	OMIM:618000
HP:0004349	Reduced bone mineral density	5373	PMM2	OMIM:212065
HP:0004349	Reduced bone mineral density	5373	PMM2	ORPHA:79318
HP:0004349	Reduced bone mineral density	1588	CYP19A1	ORPHA:91
HP:0004349	Reduced bone mineral density	1576	CYP3A4	OMIM:619073
HP:0004349	Reduced bone mineral density	9056	SLC7A7	ORPHA:470
HP:0004349	Reduced bone mineral density	11285	B4GALT7	OMIM:130070
HP:0004349	Reduced bone mineral density	11285	B4GALT7	ORPHA:75496
HP:0004349	Reduced bone mineral density	595	CCND1	ORPHA:29073
HP:0004349	Reduced bone mineral density	51604	PIGT	OMIM:615398
HP:0004349	Reduced bone mineral density	51604	PIGT	ORPHA:369837
HP:0004349	Reduced bone mineral density	5566	PRKACA	OMIM:615830
HP:0004349	Reduced bone mineral density	6135	RPL11	OMIM:612562
HP:0004349	Reduced bone mineral density	1593	CYP27A1	ORPHA:909
HP:0004349	Reduced bone mineral density	55699	IARS2	OMIM:616007
HP:0004349	Reduced bone mineral density	7015	TERT	OMIM:614742
HP:0004349	Reduced bone mineral density	8239	USP9X	ORPHA:480880
HP:0004349	Reduced bone mineral density	6804	STX1A	ORPHA:904
HP:0004349	Reduced bone mineral density	6804	STX1A	ORPHA:586
HP:0004349	Reduced bone mineral density	7461	CLIP2	ORPHA:904
HP:0004349	Reduced bone mineral density	84277	DNAJC30	ORPHA:904
HP:0004349	Reduced bone mineral density	8468	FKBP6	ORPHA:904
HP:0004349	Reduced bone mineral density	5982	RFC2	ORPHA:904
HP:0004349	Reduced bone mineral density	2969	GTF2I	ORPHA:904
HP:0004349	Reduced bone mineral density	3984	LIMK1	ORPHA:904
HP:0004349	Reduced bone mineral density	9569	GTF2IRD1	ORPHA:904
HP:0004349	Reduced bone mineral density	155382	VPS37D	ORPHA:904
HP:0004349	Reduced bone mineral density	155368	METTL27	ORPHA:904
HP:0004349	Reduced bone mineral density	114049	BUD23	ORPHA:904
HP:0004349	Reduced bone mineral density	7458	EIF4H	ORPHA:904
HP:0004349	Reduced bone mineral density	84163	GTF2IRD2	ORPHA:904
HP:0004349	Reduced bone mineral density	26608	TBL2	ORPHA:904
HP:0004349	Reduced bone mineral density	653361	NCF1	ORPHA:904
HP:0004349	Reduced bone mineral density	135886	TMEM270	ORPHA:904
HP:0004349	Reduced bone mineral density	9031	BAZ1B	ORPHA:904
HP:0004349	Reduced bone mineral density	2006	ELN	ORPHA:904
HP:0004349	Reduced bone mineral density	2006	ELN	OMIM:194050
HP:0004349	Reduced bone mineral density	2006	ELN	ORPHA:90348
HP:0004349	Reduced bone mineral density	285175	UNC80	OMIM:616801
HP:0004349	Reduced bone mineral density	1650	DDOST	OMIM:614507
HP:0004349	Reduced bone mineral density	1650	DDOST	ORPHA:300536
HP:0004349	Reduced bone mineral density	9719	ADAMTSL2	OMIM:231050
HP:0004349	Reduced bone mineral density	9719	ADAMTSL2	ORPHA:1901
HP:0004349	Reduced bone mineral density	4893	NRAS	OMIM:163200
HP:0004349	Reduced bone mineral density	4893	NRAS	ORPHA:648
HP:0004349	Reduced bone mineral density	3845	KRAS	OMIM:163200
HP:0004349	Reduced bone mineral density	3845	KRAS	ORPHA:648
HP:0004349	Reduced bone mineral density	3265	HRAS	OMIM:163200
HP:0004349	Reduced bone mineral density	84992	PIGY	OMIM:616809
HP:0004349	Reduced bone mineral density	79759	ZNF668	OMIM:620194
HP:0004349	Reduced bone mineral density	2947	GSTM3	ORPHA:586
HP:0004349	Reduced bone mineral density	7040	TGFB1	ORPHA:586
HP:0004349	Reduced bone mineral density	2729	GCLC	ORPHA:586
HP:0004349	Reduced bone mineral density	1084	CEACAM3	ORPHA:586
HP:0004349	Reduced bone mineral density	6556	SLC11A1	ORPHA:586
HP:0004349	Reduced bone mineral density	51164	DCTN4	ORPHA:586
HP:0004349	Reduced bone mineral density	3783	KCNN4	ORPHA:586
HP:0004349	Reduced bone mineral density	1909	EDNRA	ORPHA:586
HP:0004349	Reduced bone mineral density	6550	SLC9A3	ORPHA:586
HP:0004349	Reduced bone mineral density	3162	HMOX1	ORPHA:586
HP:0004349	Reduced bone mineral density	115019	SLC26A9	ORPHA:586
HP:0004349	Reduced bone mineral density	3077	HFE	ORPHA:586
HP:0004349	Reduced bone mineral density	11254	SLC6A14	ORPHA:586
HP:0004349	Reduced bone mineral density	5265	SERPINA1	ORPHA:586
HP:0004349	Reduced bone mineral density	1080	CFTR	ORPHA:586
HP:0004349	Reduced bone mineral density	22802	CLCA4	ORPHA:586
HP:0004349	Reduced bone mineral density	4680	CEACAM6	ORPHA:586
HP:0004349	Reduced bone mineral density	5626	PROP1	ORPHA:95494
HP:0004349	Reduced bone mineral density	5626	PROP1	ORPHA:90695
HP:0004349	Reduced bone mineral density	2736	GLI2	ORPHA:95494
HP:0004349	Reduced bone mineral density	89884	LHX4	ORPHA:95494
HP:0004349	Reduced bone mineral density	3170	FOXA2	ORPHA:95494
HP:0004349	Reduced bone mineral density	5449	POU1F1	ORPHA:95494
HP:0004349	Reduced bone mineral density	5015	OTX2	ORPHA:95494
HP:0004349	Reduced bone mineral density	79991	STN1	OMIM:617341
HP:0004349	Reduced bone mineral density	6774	STAT3	OMIM:147060
HP:0004349	Reduced bone mineral density	6774	STAT3	ORPHA:2314
HP:0004349	Reduced bone mineral density	9276	COPB2	OMIM:619884
HP:0004349	Reduced bone mineral density	8733	GPAA1	ORPHA:529665
HP:0004349	Reduced bone mineral density	8733	GPAA1	OMIM:617810
HP:0004349	Reduced bone mineral density	9247	GCM2	OMIM:617343
HP:0004349	Reduced bone mineral density	9247	GCM2	ORPHA:99879
HP:0004349	Reduced bone mineral density	79633	FAT4	ORPHA:314679
HP:0004349	Reduced bone mineral density	79633	FAT4	OMIM:615546
HP:0004349	Reduced bone mineral density	51085	MLXIPL	OMIM:194050
HP:0004349	Reduced bone mineral density	3911	LAMA5	OMIM:620076
HP:0004349	Reduced bone mineral density	11128	POLR3A	ORPHA:3455
HP:0004349	Reduced bone mineral density	6638	SNRPN	ORPHA:98754
HP:0004349	Reduced bone mineral density	6638	SNRPN	ORPHA:177904
HP:0004349	Reduced bone mineral density	6638	SNRPN	ORPHA:177901
HP:0004349	Reduced bone mineral density	4692	NDN	ORPHA:98754
HP:0004349	Reduced bone mineral density	4692	NDN	ORPHA:177904
HP:0004349	Reduced bone mineral density	4692	NDN	ORPHA:177901
HP:0004349	Reduced bone mineral density	54551	MAGEL2	ORPHA:98754
HP:0004349	Reduced bone mineral density	54551	MAGEL2	OMIM:176270
HP:0004349	Reduced bone mineral density	54551	MAGEL2	ORPHA:177904
HP:0004349	Reduced bone mineral density	54551	MAGEL2	ORPHA:177901
HP:0004349	Reduced bone mineral density	54551	MAGEL2	ORPHA:398069
HP:0004349	Reduced bone mineral density	4948	OCA2	ORPHA:98754
HP:0004349	Reduced bone mineral density	4948	OCA2	ORPHA:177904
HP:0004349	Reduced bone mineral density	4948	OCA2	ORPHA:177901
HP:0004349	Reduced bone mineral density	23314	SATB2	ORPHA:576283
HP:0004349	Reduced bone mineral density	23314	SATB2	ORPHA:251028
HP:0004349	Reduced bone mineral density	3187	HNRNPH1	OMIM:620083
HP:0004349	Reduced bone mineral density	5618	PRLR	ORPHA:397685
HP:0004349	Reduced bone mineral density	54941	RNF125	OMIM:616260
HP:0004349	Reduced bone mineral density	79989	IFT56	OMIM:619534
HP:0004349	Reduced bone mineral density	6603	SMARCD2	OMIM:617475
HP:0004349	Reduced bone mineral density	3977	LIFR	ORPHA:3206
HP:0004349	Reduced bone mineral density	10516	FBLN5	ORPHA:90348
HP:0004349	Reduced bone mineral density	5832	ALDH18A1	ORPHA:90348
HP:0004349	Reduced bone mineral density	5832	ALDH18A1	OMIM:616603
HP:0004349	Reduced bone mineral density	4088	SMAD3	OMIM:613795
HP:0004349	Reduced bone mineral density	50628	GEMIN4	OMIM:617913
HP:0004349	Reduced bone mineral density	64116	SLC39A8	ORPHA:468699
HP:0004349	Reduced bone mineral density	64116	SLC39A8	OMIM:616721
HP:0004349	Reduced bone mineral density	404672	GTF2H5	ORPHA:33364
HP:0004349	Reduced bone mineral density	833	CARS1	ORPHA:33364
HP:0004349	Reduced bone mineral density	2068	ERCC2	ORPHA:33364
HP:0004349	Reduced bone mineral density	7737	RNF113A	ORPHA:33364
HP:0004349	Reduced bone mineral density	136647	MPLKIP	ORPHA:33364
HP:0004349	Reduced bone mineral density	6897	TARS1	ORPHA:33364
HP:0004349	Reduced bone mineral density	16	AARS1	ORPHA:33364
HP:0004349	Reduced bone mineral density	2071	ERCC3	ORPHA:33364
HP:0004349	Reduced bone mineral density	2961	GTF2E2	ORPHA:33364
HP:0004349	Reduced bone mineral density	10195	ALG3	ORPHA:79321
HP:0004349	Reduced bone mineral density	5836	PYGL	ORPHA:369
HP:0004349	Reduced bone mineral density	387733	IFITM5	OMIM:610967
HP:0004349	Reduced bone mineral density	60681	FKBP10	OMIM:610968
HP:0004349	Reduced bone mineral density	6728	SRP19	ORPHA:486
HP:0004349	Reduced bone mineral density	1991	ELANE	ORPHA:486
HP:0004349	Reduced bone mineral density	2672	GFI1	ORPHA:486
HP:0004349	Reduced bone mineral density	81570	CLPB	ORPHA:486
HP:0004349	Reduced bone mineral density	91252	SLC39A13	ORPHA:157965
HP:0004349	Reduced bone mineral density	91252	SLC39A13	OMIM:612350
HP:0004349	Reduced bone mineral density	2629	GBA1	ORPHA:77261
HP:0004349	Reduced bone mineral density	2629	GBA1	ORPHA:77259
HP:0004349	Reduced bone mineral density	9742	IFT140	OMIM:266920
HP:0004349	Reduced bone mineral density	55151	TMEM38B	OMIM:615066
HP:0004349	Reduced bone mineral density	203859	ANO5	OMIM:166260
HP:0004349	Reduced bone mineral density	203859	ANO5	ORPHA:53697
HP:0004349	Reduced bone mineral density	7227	TRPS1	OMIM:190350
HP:0004349	Reduced bone mineral density	7227	TRPS1	OMIM:190351
HP:0004349	Reduced bone mineral density	5426	POLE	OMIM:618336
HP:0004349	Reduced bone mineral density	10664	CTCF	OMIM:615502
HP:0004349	Reduced bone mineral density	10664	CTCF	ORPHA:363611
HP:0004349	Reduced bone mineral density	284119	CAVIN1	OMIM:613327
HP:0004349	Reduced bone mineral density	2200	FBN1	ORPHA:2462
HP:0004349	Reduced bone mineral density	6497	SKI	ORPHA:2462
HP:0004349	Reduced bone mineral density	6497	SKI	OMIM:182212
HP:0004349	Reduced bone mineral density	90417	KNSTRN	OMIM:613328
HP:0004349	Reduced bone mineral density	90417	KNSTRN	ORPHA:221139
HP:0004349	Reduced bone mineral density	5293	PIK3CD	OMIM:613328
HP:0004349	Reduced bone mineral density	5293	PIK3CD	ORPHA:221139
HP:0004349	Reduced bone mineral density	865	CBFB	OMIM:620099
HP:0004349	Reduced bone mineral density	6658	SOX3	ORPHA:90695
HP:0004349	Reduced bone mineral density	950	SCARB2	ORPHA:77259
HP:0004349	Reduced bone mineral density	64132	XYLT2	OMIM:605822
HP:0004349	Reduced bone mineral density	26012	NSMF	ORPHA:432
HP:0004349	Reduced bone mineral density	4808	NHLH2	ORPHA:432
HP:0004349	Reduced bone mineral density	2796	GNRH1	ORPHA:432
HP:0004349	Reduced bone mineral density	2798	GNRHR	ORPHA:432
HP:0004349	Reduced bone mineral density	6866	TAC3	ORPHA:432
HP:0004349	Reduced bone mineral density	3814	KISS1	ORPHA:432
HP:0004349	Reduced bone mineral density	5351	PLOD1	OMIM:225400
HP:0004349	Reduced bone mineral density	5351	PLOD1	ORPHA:1900
HP:0004349	Reduced bone mineral density	8818	DPM2	ORPHA:329178
HP:0004349	Reduced bone mineral density	9842	PLEKHM1	OMIM:618107
HP:0004349	Reduced bone mineral density	89970	RSPRY1	OMIM:616723
HP:0004349	Reduced bone mineral density	89970	RSPRY1	ORPHA:457395
HP:0004349	Reduced bone mineral density	90459	ERI1	OMIM:620663
HP:0004349	Reduced bone mineral density	90459	ERI1	OMIM:620662
HP:0004349	Reduced bone mineral density	100033413	SNORD116-1	OMIM:176270
HP:0004349	Reduced bone mineral density	8924	HERC2	OMIM:176270
HP:0004349	Reduced bone mineral density	23742	NPAP1	OMIM:176270
HP:0004349	Reduced bone mineral density	338433	SNORD115-1	OMIM:176270
HP:0004349	Reduced bone mineral density	7681	MKRN3	OMIM:176270
HP:0004349	Reduced bone mineral density	145624	PWAR1	OMIM:176270
HP:0004349	Reduced bone mineral density	3653	IPW	OMIM:176270
HP:0004349	Reduced bone mineral density	791114	PWRN1	OMIM:176270
HP:0004349	Reduced bone mineral density	128869	PIGU	OMIM:618590
HP:0004349	Reduced bone mineral density	9871	SEC24D	OMIM:616294
HP:0004349	Reduced bone mineral density	6809	STX3	OMIM:619445
HP:0004349	Reduced bone mineral density	6809	STX3	OMIM:619446
HP:0004349	Reduced bone mineral density	57520	HECW2	OMIM:617268
HP:0004349	Reduced bone mineral density	23586	RIGI	OMIM:616298
HP:0004349	Reduced bone mineral density	6492	SIM1	ORPHA:398079
HP:0004349	Reduced bone mineral density	169792	GLIS3	OMIM:610199
HP:0004349	Reduced bone mineral density	5831	PYCR1	OMIM:614438
HP:0004349	Reduced bone mineral density	5831	PYCR1	OMIM:612940
HP:0004349	Reduced bone mineral density	55033	FKBP14	OMIM:614557
HP:0004349	Reduced bone mineral density	55033	FKBP14	ORPHA:300179
HP:0004349	Reduced bone mineral density	2542	SLC37A4	ORPHA:79259
HP:0004349	Reduced bone mineral density	64135	IFIH1	OMIM:182250
HP:0004349	Reduced bone mineral density	6609	SMPD1	ORPHA:77293
HP:0004349	Reduced bone mineral density	2530	FUT8	OMIM:618005
HP:0004349	Reduced bone mineral density	10265	IRX5	OMIM:611174
HP:0004349	Reduced bone mineral density	551	AVP	OMIM:125700
HP:0004349	Reduced bone mineral density	92344	GORAB	OMIM:231070
HP:0004349	Reduced bone mineral density	79577	CDC73	ORPHA:99879
HP:0004349	Reduced bone mineral density	26146	TRAF3IP1	OMIM:616629
HP:0004349	Reduced bone mineral density	9509	ADAMTS2	ORPHA:1901
HP:0004349	Reduced bone mineral density	9509	ADAMTS2	OMIM:225410
HP:0004349	Reduced bone mineral density	55750	AGK	OMIM:212350
HP:0004349	Reduced bone mineral density	7389	UROD	ORPHA:95159
HP:0004349	Reduced bone mineral density	4547	MTTP	ORPHA:14
HP:0004349	Reduced bone mineral density	6557	SLC12A1	OMIM:601678
HP:0004349	Reduced bone mineral density	3479	IGF1	OMIM:608747
HP:0004349	Reduced bone mineral density	4507	MTAP	OMIM:112250
HP:0004349	Reduced bone mineral density	3758	KCNJ1	OMIM:241200
HP:0004349	Reduced bone mineral density	8985	PLOD3	OMIM:612394
HP:0004349	Reduced bone mineral density	9419	CRIPT	OMIM:615789
HP:0004349	Reduced bone mineral density	84701	COX4I2	OMIM:612714
HP:0004349	Reduced bone mineral density	4763	NF1	ORPHA:97685
HP:0004349	Reduced bone mineral density	5660	PSAP	OMIM:610539
HP:0004349	Reduced bone mineral density	538	ATP7A	ORPHA:198
HP:0004349	Reduced bone mineral density	9368	NHERF1	OMIM:612287
HP:0004349	Reduced bone mineral density	9401	RECQL4	ORPHA:221016
HP:0004349	Reduced bone mineral density	5205	ATP8B1	OMIM:211600
HP:0004349	Reduced bone mineral density	3248	HPGD	OMIM:259100
HP:0004349	Reduced bone mineral density	4796	TONSL	OMIM:271510
HP:0004349	Reduced bone mineral density	51360	MBTPS2	OMIM:301014
HP:0004349	Reduced bone mineral density	6872	TAF1	OMIM:300966
HP:0004349	Reduced bone mineral density	285590	SH3PXD2B	OMIM:249420
HP:0004349	Reduced bone mineral density	374879	ZNF699	OMIM:619488
HP:0004349	Reduced bone mineral density	10651	MTX2	OMIM:619127
HP:0004349	Reduced bone mineral density	51124	IER3IP1	OMIM:614231
HP:0004349	Reduced bone mineral density	202018	TAPT1	OMIM:616897
HP:0004349	Reduced bone mineral density	3557	IL1RN	OMIM:612852
HP:0004349	Reduced bone mineral density	6514	SLC2A2	ORPHA:2088
HP:0004349	Reduced bone mineral density	50485	SMARCAL1	OMIM:242900
HP:0004349	Reduced bone mineral density	6554	SLC10A1	OMIM:619256
HP:0004349	Reduced bone mineral density	5745	PTH1R	OMIM:156400
HP:0004349	Reduced bone mineral density	7390	UROS	OMIM:263700
HP:0004349	Reduced bone mineral density	7390	UROS	ORPHA:79277
HP:0004349	Reduced bone mineral density	9365	KL	OMIM:617994
HP:0004349	Reduced bone mineral density	26503	SLC17A5	OMIM:269920
HP:0004349	Reduced bone mineral density	650	BMP2	OMIM:617877
HP:0004349	Reduced bone mineral density	4668	NAGA	OMIM:609241
HP:0004349	Reduced bone mineral density	100151683	RNU4ATAC	ORPHA:2636
HP:0004349	Reduced bone mineral density	10491	CRTAP	OMIM:610682
HP:0004349	Reduced bone mineral density	4194	MDM4	OMIM:618849
HP:0004349	Reduced bone mineral density	55811	ADCY10	ORPHA:2197
HP:0004349	Reduced bone mineral density	3295	HSD17B4	OMIM:261515
HP:0004349	Reduced bone mineral density	22800	RRAS2	ORPHA:648
HP:0004349	Reduced bone mineral density	867	CBL	ORPHA:648
HP:0004349	Reduced bone mineral density	8216	LZTR1	ORPHA:648
HP:0004349	Reduced bone mineral density	6016	RIT1	ORPHA:648
HP:0004349	Reduced bone mineral density	6237	RRAS	ORPHA:648
HP:0004349	Reduced bone mineral density	5894	RAF1	ORPHA:648
HP:0004349	Reduced bone mineral density	22808	MRAS	ORPHA:648
HP:0004349	Reduced bone mineral density	200734	SPRED2	ORPHA:648
HP:0004349	Reduced bone mineral density	6654	SOS1	ORPHA:648
HP:0004349	Reduced bone mineral density	6655	SOS2	ORPHA:648
HP:0004349	Reduced bone mineral density	5781	PTPN11	ORPHA:648
HP:0004349	Reduced bone mineral density	5922	RASA2	ORPHA:648
HP:0004349	Reduced bone mineral density	5479	PPIB	OMIM:259440
HP:0004349	Reduced bone mineral density	2263	FGFR2	ORPHA:313855
HP:0004349	Reduced bone mineral density	92345	NAF1	OMIM:620365
HP:0004349	Reduced bone mineral density	166929	SGMS2	OMIM:126550
HP:0004349	Reduced bone mineral density	9469	CHST3	OMIM:245600
HP:0004349	Reduced bone mineral density	26229	B3GAT3	OMIM:245600
HP:0004349	Reduced bone mineral density	375056	MIA3	OMIM:619269
HP:0004349	Reduced bone mineral density	7543	ZFX	OMIM:301118
HP:0004349	Reduced bone mineral density	80169	CTC1	OMIM:612199
HP:0004349	Reduced bone mineral density	9935	MAFB	OMIM:166300
HP:0004349	Reduced bone mineral density	25886	POC1A	OMIM:614813
HP:0004349	Reduced bone mineral density	871	SERPINH1	OMIM:613848
HP:0004349	Reduced bone mineral density	2623	GATA1	ORPHA:79277
HP:0004349	Reduced bone mineral density	64682	ANAPC1	ORPHA:221008
HP:0004349	Reduced bone mineral density	171023	ASXL1	ORPHA:98850
HP:0004349	Reduced bone mineral density	171023	ASXL1	ORPHA:98849
HP:0004349	Reduced bone mineral density	54790	TET2	ORPHA:98850
HP:0004349	Reduced bone mineral density	54790	TET2	ORPHA:98849
HP:0004349	Reduced bone mineral density	861	RUNX1	ORPHA:98850
HP:0004349	Reduced bone mineral density	6427	SRSF2	ORPHA:98850
HP:0004349	Reduced bone mineral density	6427	SRSF2	ORPHA:98849
HP:0004349	Reduced bone mineral density	875	CBS	ORPHA:394
HP:0004349	Reduced bone mineral density	875	CBS	OMIM:236200
HP:0004349	Reduced bone mineral density	83932	SPRTN	OMIM:616200
HP:0004349	Reduced bone mineral density	2100	ESR2	OMIM:618187
HP:0004349	Reduced bone mineral density	8838	CCN6	OMIM:208230
HP:0004349	Reduced bone mineral density	3815	KIT	ORPHA:98849
HP:0004349	Reduced bone mineral density	1736	DKC1	OMIM:305000
HP:0004349	Reduced bone mineral density	1736	DKC1	ORPHA:1775
HP:0004349	Reduced bone mineral density	80270	HSD3B7	ORPHA:79301
HP:0004349	Reduced bone mineral density	3909	LAMA3	ORPHA:79404
HP:0004349	Reduced bone mineral density	3918	LAMC2	ORPHA:79404
HP:0004349	Reduced bone mineral density	3914	LAMB3	ORPHA:79404
HP:0004349	Reduced bone mineral density	65267	WNK3	OMIM:309610
HP:0004349	Reduced bone mineral density	9051	PSTPIP1	OMIM:601979
HP:0004349	Reduced bone mineral density	4552	MTRR	ORPHA:2169
HP:0004349	Reduced bone mineral density	10216	PRG4	ORPHA:2848
HP:0004349	Reduced bone mineral density	3764	KCNJ8	ORPHA:1517
HP:0004349	Reduced bone mineral density	10060	ABCC9	ORPHA:1517
HP:0004349	Reduced bone mineral density	10060	ABCC9	OMIM:239850
HP:0004349	Reduced bone mineral density	57539	WDR35	ORPHA:1515
HP:0004349	Reduced bone mineral density	112752	IFT43	ORPHA:1515
HP:0004349	Reduced bone mineral density	51098	IFT52	ORPHA:1515
HP:0004349	Reduced bone mineral density	55764	IFT122	ORPHA:1515
HP:0004349	Reduced bone mineral density	55764	IFT122	OMIM:218330
HP:0004349	Reduced bone mineral density	57728	WDR19	ORPHA:1515
HP:0004349	Reduced bone mineral density	535	ATP6V0A1	OMIM:619971
HP:0004349	Reduced bone mineral density	54453	RIN2	OMIM:613075
HP:0004349	Reduced bone mineral density	2538	G6PC1	OMIM:232200
HP:0004349	Reduced bone mineral density	93627	TBCK	OMIM:616900
HP:0004349	Reduced bone mineral density	93627	TBCK	ORPHA:488632
HP:0004349	Reduced bone mineral density	55858	TMEM165	OMIM:614727
HP:0004349	Reduced bone mineral density	3117	HLA-DQA1	OMIM:212750
HP:0004349	Reduced bone mineral density	3119	HLA-DQB1	OMIM:212750
HP:0004349	Reduced bone mineral density	5095	PCCA	OMIM:606054
HP:0004349	Reduced bone mineral density	5096	PCCB	OMIM:606054
HP:0004349	Reduced bone mineral density	10815	CPLX1	ORPHA:280
HP:0004349	Reduced bone mineral density	54872	PIGG	ORPHA:280
HP:0004349	Reduced bone mineral density	7469	NELFA	ORPHA:280
HP:0004349	Reduced bone mineral density	1487	CTBP1	ORPHA:280
HP:0004349	Reduced bone mineral density	3954	LETM1	ORPHA:280
HP:0004349	Reduced bone mineral density	7468	NSD2	ORPHA:280
HP:0004349	Reduced bone mineral density	5424	POLD1	OMIM:615381
HP:0004349	Reduced bone mineral density	2720	GLB1	OMIM:253010
HP:0004349	Reduced bone mineral density	7471	WNT1	ORPHA:85193
HP:0004349	Reduced bone mineral density	22943	DKK1	ORPHA:85193
HP:0004349	Reduced bone mineral density	89780	WNT3A	ORPHA:85193
HP:0004349	Reduced bone mineral density	6662	SOX9	ORPHA:251510
HP:0004349	Reduced bone mineral density	6845	VAMP7	ORPHA:251510
HP:0004349	Reduced bone mineral density	51741	WWOX	ORPHA:251510
HP:0004349	Reduced bone mineral density	4214	MAP3K1	ORPHA:251510
HP:0004349	Reduced bone mineral density	7490	WT1	ORPHA:251510
HP:0004349	Reduced bone mineral density	57647	DHX37	ORPHA:251510
HP:0004349	Reduced bone mineral density	6736	SRY	ORPHA:251510
HP:0004349	Reduced bone mineral density	23414	ZFPM2	ORPHA:251510
HP:0004349	Reduced bone mineral density	190	NR0B1	ORPHA:251510
HP:0004349	Reduced bone mineral density	2626	GATA4	ORPHA:251510
HP:0004349	Reduced bone mineral density	26834	RNU4-2	OMIM:620851
HP:0004349	Reduced bone mineral density	2074	ERCC6	OMIM:214150
HP:0004349	Reduced bone mineral density	2074	ERCC6	OMIM:133540
HP:0004349	Reduced bone mineral density	1798	DPAGT1	ORPHA:86309
HP:0004349	Reduced bone mineral density	213	ALB	OMIM:616000
HP:0004349	Reduced bone mineral density	540	ATP7B	ORPHA:905
HP:0004349	Reduced bone mineral density	540	ATP7B	OMIM:277900
HP:0004349	Reduced bone mineral density	79798	ARMC5	OMIM:615954
HP:0004349	Reduced bone mineral density	79798	ARMC5	ORPHA:189427
HP:0004349	Reduced bone mineral density	5428	POLG	OMIM:203700
HP:0004349	Reduced bone mineral density	5428	POLG	ORPHA:254892
HP:0004349	Reduced bone mineral density	6134	RPL10	ORPHA:459070
HP:0004349	Reduced bone mineral density	6134	RPL10	OMIM:300998
HP:0004349	Reduced bone mineral density	799	CALCR	OMIM:166710
HP:0004349	Reduced bone mineral density	8572	PDLIM4	OMIM:166710
HP:0004349	Reduced bone mineral density	4040	LRP6	OMIM:610947
HP:0004349	Reduced bone mineral density	9321	TRIP11	OMIM:184260
HP:0004349	Reduced bone mineral density	5159	PDGFRB	OMIM:601812
HP:0004349	Reduced bone mineral density	8792	TNFRSF11A	ORPHA:2801
HP:0004349	Reduced bone mineral density	23028	KDM1A	ORPHA:189427
HP:0004349	Reduced bone mineral density	6714	SRC	OMIM:616937
HP:0004349	Reduced bone mineral density	124583	CANT1	OMIM:251450
HP:0004349	Reduced bone mineral density	11107	PRDM5	ORPHA:90354
HP:0004349	Reduced bone mineral density	84627	ZNF469	ORPHA:90354
HP:0004349	Reduced bone mineral density	9968	MED12	OMIM:301068
HP:0004349	Reduced bone mineral density	55275	VPS53	OMIM:615851
HP:0004349	Reduced bone mineral density	6611	SMS	OMIM:309583
HP:0004349	Reduced bone mineral density	6611	SMS	ORPHA:3063
HP:0004349	Reduced bone mineral density	654	BMP6	ORPHA:465508
HP:0004349	Reduced bone mineral density	7048	TGFBR2	OMIM:610168
HP:0004349	Reduced bone mineral density	3339	HSPG2	OMIM:255800
HP:0004349	Reduced bone mineral density	3339	HSPG2	ORPHA:800
HP:0004349	Reduced bone mineral density	5256	PHKA2	ORPHA:264580
HP:0004349	Reduced bone mineral density	5261	PHKG2	ORPHA:264580
HP:0004349	Reduced bone mineral density	93587	TRMT10A	OMIM:616033
HP:0004349	Reduced bone mineral density	6778	STAT6	OMIM:620532
HP:0004349	Reduced bone mineral density	6309	SC5D	OMIM:607330
HP:0004349	Reduced bone mineral density	291	SLC25A4	ORPHA:254892
HP:0004349	Reduced bone mineral density	56652	TWNK	ORPHA:254892
HP:0004349	Reduced bone mineral density	11232	POLG2	ORPHA:254892
HP:0004349	Reduced bone mineral density	50484	RRM2B	ORPHA:254892
HP:0004349	Reduced bone mineral density	5193	PEX12	OMIM:266510
HP:0004349	Reduced bone mineral density	51103	NDUFAF1	OMIM:618234
HP:0004349	Reduced bone mineral density	7012	TERC	OMIM:127550
HP:0004349	Reduced bone mineral density	7012	TERC	ORPHA:1775
HP:0004349	Reduced bone mineral density	2710	GK	OMIM:307030
HP:0004349	Reduced bone mineral density	427	ASAH1	ORPHA:333
HP:0004349	Reduced bone mineral density	84196	USP48	ORPHA:96253
HP:0004349	Reduced bone mineral density	7157	TP53	ORPHA:96253
HP:0004349	Reduced bone mineral density	9101	USP8	ORPHA:96253
HP:0004349	Reduced bone mineral density	9101	USP8	OMIM:219090
HP:0004349	Reduced bone mineral density	2908	NR3C1	ORPHA:96253
HP:0004349	Reduced bone mineral density	546	ATRX	ORPHA:96253
HP:0004349	Reduced bone mineral density	22930	RAB3GAP1	OMIM:600118
HP:0004349	Reduced bone mineral density	5257	PHKB	ORPHA:79240
HP:0004349	Reduced bone mineral density	6578	SLCO2A1	ORPHA:2796
HP:0004349	Reduced bone mineral density	9451	EIF2AK3	OMIM:226980
HP:0004349	Reduced bone mineral density	23395	LARS2	OMIM:615300
HP:0004349	Reduced bone mineral density	860	RUNX2	ORPHA:1452
HP:0004349	Reduced bone mineral density	57817	HAMP	ORPHA:79230
HP:0004349	Reduced bone mineral density	148738	HJV	ORPHA:79230
HP:0004349	Reduced bone mineral density	60386	SLC25A19	ORPHA:99742
HP:0004349	Reduced bone mineral density	9150	CTDP1	ORPHA:48431
HP:0004349	Reduced bone mineral density	55505	NOP10	OMIM:224230
HP:0004349	Reduced bone mineral density	55505	NOP10	ORPHA:1775
HP:0004349	Reduced bone mineral density	55651	NHP2	OMIM:224230
HP:0004349	Reduced bone mineral density	55651	NHP2	ORPHA:1775
HP:0004349	Reduced bone mineral density	2588	GALNS	OMIM:253000
HP:0004349	Reduced bone mineral density	3594	IL12RB1	ORPHA:186
HP:0004349	Reduced bone mineral density	23534	TNPO3	ORPHA:186
HP:0004349	Reduced bone mineral density	3592	IL12A	ORPHA:186
HP:0004349	Reduced bone mineral density	6689	SPIB	ORPHA:186
HP:0004349	Reduced bone mineral density	5450	POU2AF1	ORPHA:186
HP:0004349	Reduced bone mineral density	9966	TNFSF15	ORPHA:186
HP:0004349	Reduced bone mineral density	79258	MMEL1	ORPHA:186
HP:0004349	Reduced bone mineral density	3663	IRF5	ORPHA:186
HP:0004349	Reduced bone mineral density	100147744	RNU7-1	OMIM:619487
HP:0004349	Reduced bone mineral density	79983	POF1B	OMIM:300604
HP:0004349	Reduced bone mineral density	6329	SCN4A	OMIM:620351
HP:0004349	Reduced bone mineral density	55252	ASXL2	OMIM:617190
HP:0004349	Reduced bone mineral density	11014	KDELR2	OMIM:619131
HP:0004349	Reduced bone mineral density	10479	SLC9A6	ORPHA:85278
HP:0004349	Reduced bone mineral density	8815	BANF1	OMIM:614008
HP:0004349	Reduced bone mineral density	79650	USB1	ORPHA:1775
HP:0004349	Reduced bone mineral density	55135	WRAP53	ORPHA:1775
HP:0004349	Reduced bone mineral density	51750	RTEL1	ORPHA:1775
HP:0004349	Reduced bone mineral density	4869	NPM1	ORPHA:1775
HP:0004349	Reduced bone mineral density	5073	PARN	ORPHA:1775
HP:0004349	Reduced bone mineral density	7298	TYMS	ORPHA:1775
HP:0004349	Reduced bone mineral density	10892	MALT1	OMIM:615468
HP:0004349	Reduced bone mineral density	121340	SP7	OMIM:613849
HP:0004349	Reduced bone mineral density	1497	CTNS	OMIM:219800
HP:0004349	Reduced bone mineral density	1497	CTNS	ORPHA:411629
HP:0004349	Reduced bone mineral density	1497	CTNS	OMIM:219900
HP:0004349	Reduced bone mineral density	8074	FGF23	ORPHA:89937
HP:0004349	Reduced bone mineral density	8074	FGF23	OMIM:193100
HP:0004349	Reduced bone mineral density	1184	CLCN5	OMIM:300554
HP:0004349	Reduced bone mineral density	1184	CLCN5	OMIM:300009
HP:0004349	Reduced bone mineral density	6521	SLC4A1	OMIM:611590
HP:0004349	Reduced bone mineral density	1594	CYP27B1	ORPHA:289157
HP:0004349	Reduced bone mineral density	1594	CYP27B1	OMIM:264700
HP:0004349	Reduced bone mineral density	120227	CYP2R1	ORPHA:289157
HP:0004349	Reduced bone mineral density	120227	CYP2R1	OMIM:600081
HP:0004349	Reduced bone mineral density	570	BAAT	OMIM:619232
HP:0004349	Reduced bone mineral density	249	ALPL	OMIM:146300
HP:0004349	Reduced bone mineral density	4952	OCRL	OMIM:309000
HP:0004349	Reduced bone mineral density	6718	AKR1D1	ORPHA:79303
HP:0004349	Reduced bone mineral density	2628	GATM	OMIM:134600
HP:0004349	Reduced bone mineral density	10686	CLDN16	OMIM:248250
HP:0004349	Reduced bone mineral density	1962	EHHADH	OMIM:615605
HP:0004349	Reduced bone mineral density	9414	TJP2	OMIM:607748
HP:0004349	Reduced bone mineral density	3172	HNF4A	OMIM:616026
HP:0004349	Reduced bone mineral density	50617	ATP6V0A4	OMIM:602722
HP:0004349	Reduced bone mineral density	1758	DMP1	OMIM:241520
HP:0004349	Reduced bone mineral density	7421	VDR	OMIM:277440
HP:0004349	Reduced bone mineral density	5167	ENPP1	ORPHA:289176
HP:0004349	Reduced bone mineral density	5167	ENPP1	ORPHA:51608
HP:0004349	Reduced bone mineral density	368	ABCC6	ORPHA:51608
HP:0004349	Reduced bone mineral density	6850	SYK	OMIM:619381
HP:0004349	Reduced bone mineral density	1175	AP2S1	OMIM:600740
HP:0004349	Reduced bone mineral density	137682	NDUFAF6	ORPHA:3337
HP:0004349	Reduced bone mineral density	79879	CCDC134	OMIM:619795
HP:0004349	Reduced bone mineral density	2132	EXT2	OMIM:616682
HP:0004349	Reduced bone mineral density	2132	EXT2	ORPHA:466926
HP:0004349	Reduced bone mineral density	2335	FN1	ORPHA:93315
HP:0004349	Reduced bone mineral density	1280	COL2A1	ORPHA:93315
HP:0004349	Reduced bone mineral density	1280	COL2A1	ORPHA:94068
HP:0004349	Reduced bone mineral density	4010	LMX1B	ORPHA:2614
HP:0004349	Reduced bone mineral density	652	BMP4	ORPHA:828
HP:0004349	Reduced bone mineral density	2767	GNA11	ORPHA:428
HP:0004349	Reduced bone mineral density	2767	GNA11	ORPHA:1556
HP:0004349	Reduced bone mineral density	846	CASR	ORPHA:428
HP:0004349	Reduced bone mineral density	10312	TCIRG1	ORPHA:667
HP:0004349	Reduced bone mineral density	1186	CLCN7	ORPHA:667
HP:0004349	Reduced bone mineral density	29887	SNX10	ORPHA:667
HP:0004349	Reduced bone mineral density	8600	TNFSF11	ORPHA:667
HP:0004349	Reduced bone mineral density	9131	AIFM1	ORPHA:83629
HP:0004349	Reduced bone mineral density	221496	LEMD2	OMIM:619322
HP:0004349	Reduced bone mineral density	1528	CYB5A	ORPHA:90796
HP:0004349	Reduced bone mineral density	1586	CYP17A1	ORPHA:90796
HP:0004349	Reduced bone mineral density	7486	WRN	OMIM:277700
HP:0004349	Reduced bone mineral density	55768	NGLY1	ORPHA:404454
HP:0004349	Reduced bone mineral density	6335	SCN9A	ORPHA:970
HP:0004349	Reduced bone mineral density	65125	WNK1	ORPHA:970
HP:0004349	Reduced bone mineral density	54463	RETREG1	ORPHA:970
HP:0004349	Reduced bone mineral density	547	KIF1A	ORPHA:970
HP:0004349	Reduced bone mineral density	2592	GALT	ORPHA:79239
HP:0004349	Reduced bone mineral density	9698	PUM1	OMIM:620719
HP:0004349	Reduced bone mineral density	672	BRCA1	ORPHA:84
HP:0004349	Reduced bone mineral density	10459	MAD2L2	ORPHA:84
HP:0004349	Reduced bone mineral density	7516	XRCC2	ORPHA:84
HP:0004349	Reduced bone mineral density	29089	UBE2T	ORPHA:84
HP:0004349	Reduced bone mineral density	675	BRCA2	ORPHA:84
HP:0004349	Reduced bone mineral density	55120	FANCL	ORPHA:84
HP:0004349	Reduced bone mineral density	2177	FANCD2	ORPHA:84
HP:0004349	Reduced bone mineral density	2175	FANCA	ORPHA:84
HP:0004349	Reduced bone mineral density	2187	FANCB	ORPHA:84
HP:0004349	Reduced bone mineral density	2176	FANCC	ORPHA:84
HP:0004349	Reduced bone mineral density	2178	FANCE	ORPHA:84
HP:0004349	Reduced bone mineral density	2188	FANCF	ORPHA:84
HP:0004349	Reduced bone mineral density	2189	FANCG	ORPHA:84
HP:0004349	Reduced bone mineral density	5888	RAD51	ORPHA:84
HP:0004349	Reduced bone mineral density	5889	RAD51C	ORPHA:84
HP:0004349	Reduced bone mineral density	55159	RFWD3	ORPHA:84
HP:0004349	Reduced bone mineral density	83990	BRIP1	ORPHA:84
HP:0004349	Reduced bone mineral density	57697	FANCM	ORPHA:84
HP:0004349	Reduced bone mineral density	79728	PALB2	ORPHA:84
HP:0004349	Reduced bone mineral density	84464	SLX4	ORPHA:84
HP:0004349	Reduced bone mineral density	2072	ERCC4	ORPHA:84
HP:0004349	Reduced bone mineral density	55215	FANCI	ORPHA:84
HP:0004349	Reduced bone mineral density	6678	SPARC	OMIM:616507
HP:0004349	Reduced bone mineral density	51608	GET4	OMIM:620200
HP:0004349	Reduced bone mineral density	2717	GLA	ORPHA:324
HP:0004349	Reduced bone mineral density	1583	CYP11A1	ORPHA:289548
HP:0004349	Reduced bone mineral density	1583	CYP11A1	ORPHA:168558
HP:0004349	Reduced bone mineral density	4784	NFIX	ORPHA:561
HP:0004349	Reduced bone mineral density	114548	NLRP3	ORPHA:1451
HP:0004349	Reduced bone mineral density	649	BMP1	OMIM:614856
HP:0004349	Reduced bone mineral density	1277	COL1A1	OMIM:166220
HP:0004349	Reduced bone mineral density	1277	COL1A1	OMIM:619115
HP:0004349	Reduced bone mineral density	1278	COL1A2	OMIM:166220
HP:0004349	Reduced bone mineral density	4000	LMNA	ORPHA:79474
HP:0004349	Reduced bone mineral density	4000	LMNA	ORPHA:740
HP:0004349	Reduced bone mineral density	8883	NAE1	OMIM:620210
HP:0004349	Reduced bone mineral density	2395	FXN	ORPHA:95
HP:0004349	Reduced bone mineral density	5251	PHEX	ORPHA:89936
HP:0004349	Reduced bone mineral density	6424	SFRP4	OMIM:265900
HP:0004349	Reduced bone mineral density	5034	P4HB	OMIM:112240
HP:0004349	Reduced bone mineral density	134218	DNAJC21	OMIM:617052
HP:0004349	Reduced bone mineral density	55325	UFSP2	OMIM:617974
HP:0004349	Reduced bone mineral density	5604	MAP2K1	OMIM:615279
HP:0004349	Reduced bone mineral density	7305	TYROBP	ORPHA:2770
HP:0004349	Reduced bone mineral density	54209	TREM2	ORPHA:2770
HP:0004349	Reduced bone mineral density	10056	FARSB	OMIM:613658
HP:0004349	Reduced bone mineral density	5184	PEPD	ORPHA:742
HP:0004349	Reduced bone mineral density	8720	MBTPS1	OMIM:618392
HP:0004349	Reduced bone mineral density	10269	ZMPSTE24	ORPHA:740
HP:0004349	Reduced bone mineral density	26137	ZBTB20	OMIM:259050
HP:0004349	Reduced bone mineral density	3043	HBB	ORPHA:231222
HP:0004349	Reduced bone mineral density	60676	PAPPA2	OMIM:619489
HP:0004349	Reduced bone mineral density	23187	PHLDB1	OMIM:620639
HP:0004349	Reduced bone mineral density	51163	DBR1	OMIM:620510
HP:0004349	Reduced bone mineral density	4773	NFATC2	OMIM:620232
HP:0004349	Reduced bone mineral density	151188	ARL6IP6	ORPHA:1556
HP:0004349	Reduced bone mineral density	4221	MEN1	ORPHA:652
HP:0004349	Reduced bone mineral density	1027	CDKN1B	ORPHA:652
HP:0004349	Reduced bone mineral density	1026	CDKN1A	ORPHA:652
HP:0004349	Reduced bone mineral density	1030	CDKN2B	ORPHA:652
HP:0004349	Reduced bone mineral density	1031	CDKN2C	ORPHA:652
HP:0004349	Reduced bone mineral density	4693	NDP	ORPHA:891
HP:0004349	Reduced bone mineral density	1499	CTNNB1	ORPHA:891
HP:0004349	Reduced bone mineral density	23554	TSPAN12	ORPHA:891
HP:0004349	Reduced bone mineral density	4041	LRP5	ORPHA:891
HP:0004349	Reduced bone mineral density	79797	ZNF408	ORPHA:891
HP:0004349	Reduced bone mineral density	8322	FZD4	ORPHA:891
HP:0004349	Reduced bone mineral density	55898	UNC45A	OMIM:619377
HP:0004349	Reduced bone mineral density	142680	SLC34A3	ORPHA:157215
HP:0004349	Reduced bone mineral density	6569	SLC34A1	ORPHA:157215
HP:0004349	Reduced bone mineral density	8481	OFD1	ORPHA:2750
HP:0004349	Reduced bone mineral density	2778	GNAS	ORPHA:79443
HP:0004349	Reduced bone mineral density	3081	HGD	ORPHA:56
HP:0004349	Reduced bone mineral density	29893	PSMC3IP	ORPHA:243
HP:0004349	Reduced bone mineral density	171568	POLR3H	ORPHA:243
HP:0004349	Reduced bone mineral density	2516	NR5A1	ORPHA:243
HP:0004349	Reduced bone mineral density	125150	ZSWIM7	ORPHA:243
HP:0004349	Reduced bone mineral density	9210	BMP15	ORPHA:243
HP:0004349	Reduced bone mineral density	57122	NUP107	ORPHA:243
HP:0004349	Reduced bone mineral density	23514	SPIDR	ORPHA:243
HP:0004349	Reduced bone mineral density	2492	FSHR	ORPHA:243
HP:0004349	Reduced bone mineral density	56945	MRPS22	ORPHA:243
HP:0004349	Reduced bone mineral density	646	BNC1	ORPHA:243
HP:0004349	Reduced bone mineral density	4438	MSH4	ORPHA:243
HP:0004349	Reduced bone mineral density	4982	TNFRSF11B	ORPHA:1416
HP:0004349	Reduced bone mineral density	56172	ANKH	ORPHA:1416
HP:0004349	Reduced bone mineral density	2260	FGFR1	ORPHA:478
HP:0004349	Reduced bone mineral density	10371	SEMA3A	ORPHA:478
HP:0004349	Reduced bone mineral density	81848	SPRY4	ORPHA:478
HP:0004349	Reduced bone mineral density	23767	FLRT3	ORPHA:478
HP:0004349	Reduced bone mineral density	128674	PROKR2	ORPHA:478
HP:0004349	Reduced bone mineral density	79625	NDNF	ORPHA:478
HP:0004349	Reduced bone mineral density	2253	FGF8	ORPHA:478
HP:0004349	Reduced bone mineral density	389549	FEZF1	ORPHA:478
HP:0004349	Reduced bone mineral density	1630	DCC	ORPHA:478
HP:0004349	Reduced bone mineral density	3730	ANOS1	ORPHA:478
HP:0004349	Reduced bone mineral density	54756	IL17RD	ORPHA:478
HP:0004349	Reduced bone mineral density	6663	SOX10	ORPHA:478
HP:0004349	Reduced bone mineral density	285025	CCDC141	ORPHA:478
HP:0004349	Reduced bone mineral density	60675	PROK2	ORPHA:478
HP:0004349	Reduced bone mineral density	55636	CHD7	ORPHA:478
HP:0004349	Reduced bone mineral density	1848	DUSP6	ORPHA:478
HP:0004349	Reduced bone mineral density	6870	TACR3	ORPHA:478
HP:0004349	Reduced bone mineral density	55717	WDR11	ORPHA:478
HP:0004349	Reduced bone mineral density	9394	HS6ST1	ORPHA:478
HP:0004349	Reduced bone mineral density	8820	HESX1	ORPHA:478
HP:0004349	Reduced bone mineral density	8822	FGF17	ORPHA:478
HP:0004349	Reduced bone mineral density	84181	CHD6	ORPHA:2108
HP:0004349	Reduced bone mineral density	5728	PTEN	ORPHA:137608
HP:0004349	Reduced bone mineral density	4322	MMP13	ORPHA:2501
HP:0004349	Reduced bone mineral density	5442	POLRMT	OMIM:619743
HP:0004349	Reduced bone mineral density	4665	NAB2	ORPHA:2126
HP:0004349	Reduced bone mineral density	6660	SOX5	ORPHA:626
HP:0004349	Reduced bone mineral density	238	ALK	ORPHA:626
HP:0004349	Reduced bone mineral density	9839	ZEB2	ORPHA:626
HP:0004349	Reduced bone mineral density	2184	FAH	OMIM:276700
HP:0004349	Reduced bone mineral density	65992	DDRGK1	ORPHA:93352
HP:0004349	Reduced bone mineral density	3930	LBR	OMIM:215140
HP:0004349	Reduced bone mineral density	59341	TRPV4	OMIM:184095
HP:0004349	Reduced bone mineral density	55603	TENT5A	OMIM:617952
HP:0004349	Reduced bone mineral density	5654	HTRA1	ORPHA:199354
HP:0004349	Reduced bone mineral density	6399	TRAPPC2	ORPHA:93284
HP:0004348	Abnormality of bone mineral density	6448	SGSH	OMIM:252900
HP:0004348	Abnormality of bone mineral density	138050	HGSNAT	OMIM:252930
HP:0004348	Abnormality of bone mineral density	4669	NAGLU	OMIM:252920
HP:0004348	Abnormality of bone mineral density	144811	LACC1	ORPHA:85414
HP:0004348	Abnormality of bone mineral density	4282	MIF	ORPHA:85414
HP:0004348	Abnormality of bone mineral density	4282	MIF	ORPHA:586
HP:0004348	Abnormality of bone mineral density	3123	HLA-DRB1	ORPHA:85414
HP:0004348	Abnormality of bone mineral density	3569	IL6	ORPHA:85414
HP:0004348	Abnormality of bone mineral density	1763	DNA2	OMIM:620819
HP:0004348	Abnormality of bone mineral density	55503	TRPV6	OMIM:618188
HP:0004348	Abnormality of bone mineral density	8425	LTBP4	OMIM:613177
HP:0004348	Abnormality of bone mineral density	51126	NAA20	OMIM:619717
HP:0004348	Abnormality of bone mineral density	6938	TCF12	OMIM:619718
HP:0004348	Abnormality of bone mineral density	7355	SLC35A2	ORPHA:356961
HP:0004348	Abnormality of bone mineral density	673	BRAF	OMIM:115150
HP:0004348	Abnormality of bone mineral density	10973	ASCC3	OMIM:620700
HP:0004348	Abnormality of bone mineral density	118429	ANTXR2	ORPHA:2176
HP:0004348	Abnormality of bone mineral density	118429	ANTXR2	OMIM:228600
HP:0004348	Abnormality of bone mineral density	126792	B3GALT6	OMIM:609465
HP:0004348	Abnormality of bone mineral density	126792	B3GALT6	ORPHA:536467
HP:0004348	Abnormality of bone mineral density	126792	B3GALT6	OMIM:615349
HP:0004348	Abnormality of bone mineral density	91147	TMEM67	OMIM:602152
HP:0004348	Abnormality of bone mineral density	91147	TMEM67	ORPHA:140976
HP:0004348	Abnormality of bone mineral density	5352	PLOD2	OMIM:609220
HP:0004348	Abnormality of bone mineral density	3190	HNRNPK	ORPHA:453504
HP:0004348	Abnormality of bone mineral density	3190	HNRNPK	ORPHA:352665
HP:0004348	Abnormality of bone mineral density	4125	MAN2B1	ORPHA:309282
HP:0004348	Abnormality of bone mineral density	4125	MAN2B1	ORPHA:309288
HP:0004348	Abnormality of bone mineral density	4312	MMP1	ORPHA:79408
HP:0004348	Abnormality of bone mineral density	1294	COL7A1	ORPHA:79408
HP:0004348	Abnormality of bone mineral density	8443	GNPAT	OMIM:222765
HP:0004348	Abnormality of bone mineral density	2099	ESR1	OMIM:615363
HP:0004348	Abnormality of bone mineral density	2099	ESR1	ORPHA:785
HP:0004348	Abnormality of bone mineral density	64072	CDH23	ORPHA:2965
HP:0004348	Abnormality of bone mineral density	64072	CDH23	ORPHA:91347
HP:0004348	Abnormality of bone mineral density	9049	AIP	ORPHA:2965
HP:0004348	Abnormality of bone mineral density	2201	FBN2	OMIM:121050
HP:0004348	Abnormality of bone mineral density	50940	PDE11A	OMIM:610475
HP:0004348	Abnormality of bone mineral density	4882	NPR2	OMIM:615923
HP:0004348	Abnormality of bone mineral density	84634	KISS1R	OMIM:614837
HP:0004348	Abnormality of bone mineral density	84634	KISS1R	ORPHA:432
HP:0004348	Abnormality of bone mineral density	79158	GNPTAB	OMIM:252500
HP:0004348	Abnormality of bone mineral density	9382	COG1	OMIM:611209
HP:0004348	Abnormality of bone mineral density	9382	COG1	ORPHA:263508
HP:0004348	Abnormality of bone mineral density	79631	EFL1	ORPHA:811
HP:0004348	Abnormality of bone mineral density	51119	SBDS	ORPHA:811
HP:0004348	Abnormality of bone mineral density	64175	P3H1	OMIM:610915
HP:0004348	Abnormality of bone mineral density	7125	TNNC2	OMIM:620161
HP:0004348	Abnormality of bone mineral density	6772	STAT1	OMIM:614162
HP:0004348	Abnormality of bone mineral density	6772	STAT1	ORPHA:391487
HP:0004348	Abnormality of bone mineral density	2859	GPR35	ORPHA:171
HP:0004348	Abnormality of bone mineral density	10507	SEMA4D	ORPHA:171
HP:0004348	Abnormality of bone mineral density	4485	MST1	ORPHA:171
HP:0004348	Abnormality of bone mineral density	6925	TCF4	ORPHA:171
HP:0004348	Abnormality of bone mineral density	26277	TINF2	OMIM:613990
HP:0004348	Abnormality of bone mineral density	3899	AFF3	OMIM:619297
HP:0004348	Abnormality of bone mineral density	80204	FBXO11	OMIM:618089
HP:0004348	Abnormality of bone mineral density	23545	ATP6V0A2	ORPHA:2834
HP:0004348	Abnormality of bone mineral density	23545	ATP6V0A2	OMIM:278250
HP:0004348	Abnormality of bone mineral density	4853	NOTCH2	OMIM:102500
HP:0004348	Abnormality of bone mineral density	4853	NOTCH2	ORPHA:955
HP:0004348	Abnormality of bone mineral density	90993	CREB3L1	OMIM:616229
HP:0004348	Abnormality of bone mineral density	5573	PRKAR1A	OMIM:610489
HP:0004348	Abnormality of bone mineral density	4313	MMP2	ORPHA:371428
HP:0004348	Abnormality of bone mineral density	4313	MMP2	OMIM:259600
HP:0004348	Abnormality of bone mineral density	4323	MMP14	ORPHA:371428
HP:0004348	Abnormality of bone mineral density	1289	COL5A1	ORPHA:287
HP:0004348	Abnormality of bone mineral density	1290	COL5A2	ORPHA:287
HP:0004348	Abnormality of bone mineral density	10484	SEC23A	OMIM:607812
HP:0004348	Abnormality of bone mineral density	8726	EED	OMIM:617561
HP:0004348	Abnormality of bone mineral density	1028	CDKN1C	OMIM:614732
HP:0004348	Abnormality of bone mineral density	8642	DCHS1	OMIM:601390
HP:0004348	Abnormality of bone mineral density	8642	DCHS1	ORPHA:314679
HP:0004348	Abnormality of bone mineral density	4247	MGAT2	OMIM:212066
HP:0004348	Abnormality of bone mineral density	4247	MGAT2	ORPHA:79329
HP:0004348	Abnormality of bone mineral density	8517	IKBKG	ORPHA:98813
HP:0004348	Abnormality of bone mineral density	4792	NFKBIA	ORPHA:98813
HP:0004348	Abnormality of bone mineral density	165	AEBP1	ORPHA:536532
HP:0004348	Abnormality of bone mineral density	165	AEBP1	OMIM:618000
HP:0004348	Abnormality of bone mineral density	5373	PMM2	OMIM:212065
HP:0004348	Abnormality of bone mineral density	5373	PMM2	ORPHA:79318
HP:0004348	Abnormality of bone mineral density	1588	CYP19A1	ORPHA:91
HP:0004348	Abnormality of bone mineral density	1576	CYP3A4	OMIM:619073
HP:0004348	Abnormality of bone mineral density	9056	SLC7A7	ORPHA:470
HP:0004348	Abnormality of bone mineral density	11285	B4GALT7	OMIM:130070
HP:0004348	Abnormality of bone mineral density	11285	B4GALT7	ORPHA:75496
HP:0004348	Abnormality of bone mineral density	595	CCND1	ORPHA:29073
HP:0004348	Abnormality of bone mineral density	51604	PIGT	OMIM:615398
HP:0004348	Abnormality of bone mineral density	51604	PIGT	ORPHA:369837
HP:0004348	Abnormality of bone mineral density	5566	PRKACA	OMIM:615830
HP:0004348	Abnormality of bone mineral density	6135	RPL11	OMIM:612562
HP:0004348	Abnormality of bone mineral density	1593	CYP27A1	ORPHA:909
HP:0004348	Abnormality of bone mineral density	55699	IARS2	OMIM:616007
HP:0004348	Abnormality of bone mineral density	7015	TERT	OMIM:614742
HP:0004348	Abnormality of bone mineral density	8239	USP9X	ORPHA:480880
HP:0004348	Abnormality of bone mineral density	285175	UNC80	OMIM:616801
HP:0004348	Abnormality of bone mineral density	1650	DDOST	OMIM:614507
HP:0004348	Abnormality of bone mineral density	1650	DDOST	ORPHA:300536
HP:0004348	Abnormality of bone mineral density	9719	ADAMTSL2	OMIM:231050
HP:0004348	Abnormality of bone mineral density	9719	ADAMTSL2	ORPHA:1901
HP:0004348	Abnormality of bone mineral density	4893	NRAS	OMIM:163200
HP:0004348	Abnormality of bone mineral density	4893	NRAS	ORPHA:648
HP:0004348	Abnormality of bone mineral density	3845	KRAS	OMIM:163200
HP:0004348	Abnormality of bone mineral density	3845	KRAS	ORPHA:648
HP:0004348	Abnormality of bone mineral density	3265	HRAS	OMIM:163200
HP:0004348	Abnormality of bone mineral density	84992	PIGY	OMIM:616809
HP:0004348	Abnormality of bone mineral density	79759	ZNF668	OMIM:620194
HP:0004348	Abnormality of bone mineral density	2947	GSTM3	ORPHA:586
HP:0004348	Abnormality of bone mineral density	2729	GCLC	ORPHA:586
HP:0004348	Abnormality of bone mineral density	1084	CEACAM3	ORPHA:586
HP:0004348	Abnormality of bone mineral density	6556	SLC11A1	ORPHA:586
HP:0004348	Abnormality of bone mineral density	51164	DCTN4	ORPHA:586
HP:0004348	Abnormality of bone mineral density	3783	KCNN4	ORPHA:586
HP:0004348	Abnormality of bone mineral density	1909	EDNRA	ORPHA:586
HP:0004348	Abnormality of bone mineral density	6550	SLC9A3	ORPHA:586
HP:0004348	Abnormality of bone mineral density	3162	HMOX1	ORPHA:586
HP:0004348	Abnormality of bone mineral density	115019	SLC26A9	ORPHA:586
HP:0004348	Abnormality of bone mineral density	3077	HFE	ORPHA:586
HP:0004348	Abnormality of bone mineral density	11254	SLC6A14	ORPHA:586
HP:0004348	Abnormality of bone mineral density	5265	SERPINA1	ORPHA:586
HP:0004348	Abnormality of bone mineral density	1080	CFTR	ORPHA:586
HP:0004348	Abnormality of bone mineral density	22802	CLCA4	ORPHA:586
HP:0004348	Abnormality of bone mineral density	4680	CEACAM6	ORPHA:586
HP:0004348	Abnormality of bone mineral density	5626	PROP1	ORPHA:95494
HP:0004348	Abnormality of bone mineral density	5626	PROP1	ORPHA:90695
HP:0004348	Abnormality of bone mineral density	2736	GLI2	ORPHA:95494
HP:0004348	Abnormality of bone mineral density	89884	LHX4	ORPHA:95494
HP:0004348	Abnormality of bone mineral density	3170	FOXA2	ORPHA:95494
HP:0004348	Abnormality of bone mineral density	5449	POU1F1	ORPHA:95494
HP:0004348	Abnormality of bone mineral density	5015	OTX2	ORPHA:95494
HP:0004348	Abnormality of bone mineral density	79991	STN1	OMIM:617341
HP:0004348	Abnormality of bone mineral density	6774	STAT3	OMIM:147060
HP:0004348	Abnormality of bone mineral density	6774	STAT3	ORPHA:2314
HP:0004348	Abnormality of bone mineral density	9276	COPB2	OMIM:619884
HP:0004348	Abnormality of bone mineral density	8733	GPAA1	ORPHA:529665
HP:0004348	Abnormality of bone mineral density	8733	GPAA1	OMIM:617810
HP:0004348	Abnormality of bone mineral density	9247	GCM2	OMIM:617343
HP:0004348	Abnormality of bone mineral density	9247	GCM2	ORPHA:99879
HP:0004348	Abnormality of bone mineral density	79633	FAT4	ORPHA:314679
HP:0004348	Abnormality of bone mineral density	79633	FAT4	OMIM:615546
HP:0004348	Abnormality of bone mineral density	51085	MLXIPL	OMIM:194050
HP:0004348	Abnormality of bone mineral density	3911	LAMA5	OMIM:620076
HP:0004348	Abnormality of bone mineral density	11128	POLR3A	ORPHA:3455
HP:0004348	Abnormality of bone mineral density	6638	SNRPN	ORPHA:98754
HP:0004348	Abnormality of bone mineral density	6638	SNRPN	ORPHA:177904
HP:0004348	Abnormality of bone mineral density	6638	SNRPN	ORPHA:177901
HP:0004348	Abnormality of bone mineral density	4692	NDN	ORPHA:98754
HP:0004348	Abnormality of bone mineral density	4692	NDN	ORPHA:177904
HP:0004348	Abnormality of bone mineral density	4692	NDN	ORPHA:177901
HP:0004348	Abnormality of bone mineral density	54551	MAGEL2	ORPHA:98754
HP:0004348	Abnormality of bone mineral density	54551	MAGEL2	OMIM:176270
HP:0004348	Abnormality of bone mineral density	54551	MAGEL2	ORPHA:177904
HP:0004348	Abnormality of bone mineral density	54551	MAGEL2	ORPHA:177901
HP:0004348	Abnormality of bone mineral density	54551	MAGEL2	ORPHA:398069
HP:0004348	Abnormality of bone mineral density	4948	OCA2	ORPHA:98754
HP:0004348	Abnormality of bone mineral density	4948	OCA2	ORPHA:177904
HP:0004348	Abnormality of bone mineral density	4948	OCA2	ORPHA:177901
HP:0004348	Abnormality of bone mineral density	23314	SATB2	ORPHA:576283
HP:0004348	Abnormality of bone mineral density	23314	SATB2	ORPHA:251028
HP:0004348	Abnormality of bone mineral density	3187	HNRNPH1	OMIM:620083
HP:0004348	Abnormality of bone mineral density	5618	PRLR	ORPHA:397685
HP:0004348	Abnormality of bone mineral density	54941	RNF125	OMIM:616260
HP:0004348	Abnormality of bone mineral density	79989	IFT56	OMIM:619534
HP:0004348	Abnormality of bone mineral density	6603	SMARCD2	OMIM:617475
HP:0004348	Abnormality of bone mineral density	3977	LIFR	ORPHA:3206
HP:0004348	Abnormality of bone mineral density	10516	FBLN5	ORPHA:90348
HP:0004348	Abnormality of bone mineral density	5832	ALDH18A1	ORPHA:90348
HP:0004348	Abnormality of bone mineral density	5832	ALDH18A1	OMIM:616603
HP:0004348	Abnormality of bone mineral density	4088	SMAD3	OMIM:613795
HP:0004348	Abnormality of bone mineral density	50628	GEMIN4	OMIM:617913
HP:0004348	Abnormality of bone mineral density	64116	SLC39A8	ORPHA:468699
HP:0004348	Abnormality of bone mineral density	64116	SLC39A8	OMIM:616721
HP:0004348	Abnormality of bone mineral density	10195	ALG3	ORPHA:79321
HP:0004348	Abnormality of bone mineral density	5836	PYGL	ORPHA:369
HP:0004348	Abnormality of bone mineral density	387733	IFITM5	OMIM:610967
HP:0004348	Abnormality of bone mineral density	60681	FKBP10	OMIM:610968
HP:0004348	Abnormality of bone mineral density	6728	SRP19	ORPHA:486
HP:0004348	Abnormality of bone mineral density	1991	ELANE	ORPHA:486
HP:0004348	Abnormality of bone mineral density	2672	GFI1	ORPHA:486
HP:0004348	Abnormality of bone mineral density	81570	CLPB	ORPHA:486
HP:0004348	Abnormality of bone mineral density	91252	SLC39A13	ORPHA:157965
HP:0004348	Abnormality of bone mineral density	91252	SLC39A13	OMIM:612350
HP:0004348	Abnormality of bone mineral density	9742	IFT140	OMIM:266920
HP:0004348	Abnormality of bone mineral density	55151	TMEM38B	OMIM:615066
HP:0004348	Abnormality of bone mineral density	203859	ANO5	OMIM:166260
HP:0004348	Abnormality of bone mineral density	203859	ANO5	ORPHA:53697
HP:0004348	Abnormality of bone mineral density	7227	TRPS1	OMIM:190350
HP:0004348	Abnormality of bone mineral density	7227	TRPS1	OMIM:190351
HP:0004348	Abnormality of bone mineral density	5426	POLE	OMIM:618336
HP:0004348	Abnormality of bone mineral density	10664	CTCF	OMIM:615502
HP:0004348	Abnormality of bone mineral density	10664	CTCF	ORPHA:363611
HP:0004348	Abnormality of bone mineral density	284119	CAVIN1	OMIM:613327
HP:0004348	Abnormality of bone mineral density	2200	FBN1	ORPHA:2462
HP:0004348	Abnormality of bone mineral density	6497	SKI	ORPHA:2462
HP:0004348	Abnormality of bone mineral density	6497	SKI	OMIM:182212
HP:0004348	Abnormality of bone mineral density	90417	KNSTRN	OMIM:613328
HP:0004348	Abnormality of bone mineral density	90417	KNSTRN	ORPHA:221139
HP:0004348	Abnormality of bone mineral density	5293	PIK3CD	OMIM:613328
HP:0004348	Abnormality of bone mineral density	5293	PIK3CD	ORPHA:221139
HP:0004348	Abnormality of bone mineral density	865	CBFB	OMIM:620099
HP:0004348	Abnormality of bone mineral density	6658	SOX3	ORPHA:90695
HP:0004348	Abnormality of bone mineral density	950	SCARB2	ORPHA:77259
HP:0004348	Abnormality of bone mineral density	64132	XYLT2	OMIM:605822
HP:0004348	Abnormality of bone mineral density	26012	NSMF	ORPHA:432
HP:0004348	Abnormality of bone mineral density	4808	NHLH2	ORPHA:432
HP:0004348	Abnormality of bone mineral density	2796	GNRH1	ORPHA:432
HP:0004348	Abnormality of bone mineral density	2798	GNRHR	ORPHA:432
HP:0004348	Abnormality of bone mineral density	6866	TAC3	ORPHA:432
HP:0004348	Abnormality of bone mineral density	3814	KISS1	ORPHA:432
HP:0004348	Abnormality of bone mineral density	5351	PLOD1	OMIM:225400
HP:0004348	Abnormality of bone mineral density	5351	PLOD1	ORPHA:1900
HP:0004348	Abnormality of bone mineral density	8818	DPM2	ORPHA:329178
HP:0004348	Abnormality of bone mineral density	89970	RSPRY1	OMIM:616723
HP:0004348	Abnormality of bone mineral density	89970	RSPRY1	ORPHA:457395
HP:0004348	Abnormality of bone mineral density	90459	ERI1	OMIM:620663
HP:0004348	Abnormality of bone mineral density	90459	ERI1	OMIM:620662
HP:0004348	Abnormality of bone mineral density	100033413	SNORD116-1	OMIM:176270
HP:0004348	Abnormality of bone mineral density	8924	HERC2	OMIM:176270
HP:0004348	Abnormality of bone mineral density	23742	NPAP1	OMIM:176270
HP:0004348	Abnormality of bone mineral density	338433	SNORD115-1	OMIM:176270
HP:0004348	Abnormality of bone mineral density	7681	MKRN3	OMIM:176270
HP:0004348	Abnormality of bone mineral density	145624	PWAR1	OMIM:176270
HP:0004348	Abnormality of bone mineral density	3653	IPW	OMIM:176270
HP:0004348	Abnormality of bone mineral density	791114	PWRN1	OMIM:176270
HP:0004348	Abnormality of bone mineral density	128869	PIGU	OMIM:618590
HP:0004348	Abnormality of bone mineral density	9871	SEC24D	OMIM:616294
HP:0004348	Abnormality of bone mineral density	6809	STX3	OMIM:619445
HP:0004348	Abnormality of bone mineral density	6809	STX3	OMIM:619446
HP:0004348	Abnormality of bone mineral density	57520	HECW2	OMIM:617268
HP:0004348	Abnormality of bone mineral density	23586	RIGI	OMIM:616298
HP:0004348	Abnormality of bone mineral density	6492	SIM1	ORPHA:398079
HP:0004348	Abnormality of bone mineral density	169792	GLIS3	OMIM:610199
HP:0004348	Abnormality of bone mineral density	5831	PYCR1	OMIM:614438
HP:0004348	Abnormality of bone mineral density	5831	PYCR1	OMIM:612940
HP:0004348	Abnormality of bone mineral density	55033	FKBP14	OMIM:614557
HP:0004348	Abnormality of bone mineral density	55033	FKBP14	ORPHA:300179
HP:0004348	Abnormality of bone mineral density	2542	SLC37A4	ORPHA:79259
HP:0004348	Abnormality of bone mineral density	64135	IFIH1	OMIM:182250
HP:0004348	Abnormality of bone mineral density	6609	SMPD1	ORPHA:77293
HP:0004348	Abnormality of bone mineral density	2530	FUT8	OMIM:618005
HP:0004348	Abnormality of bone mineral density	10265	IRX5	OMIM:611174
HP:0004348	Abnormality of bone mineral density	551	AVP	OMIM:125700
HP:0004348	Abnormality of bone mineral density	92344	GORAB	OMIM:231070
HP:0004348	Abnormality of bone mineral density	79577	CDC73	ORPHA:99879
HP:0004348	Abnormality of bone mineral density	9509	ADAMTS2	ORPHA:1901
HP:0004348	Abnormality of bone mineral density	9509	ADAMTS2	OMIM:225410
HP:0004348	Abnormality of bone mineral density	55750	AGK	OMIM:212350
HP:0004348	Abnormality of bone mineral density	7389	UROD	ORPHA:95159
HP:0004348	Abnormality of bone mineral density	4547	MTTP	ORPHA:14
HP:0004348	Abnormality of bone mineral density	6557	SLC12A1	OMIM:601678
HP:0004348	Abnormality of bone mineral density	3479	IGF1	OMIM:608747
HP:0004348	Abnormality of bone mineral density	4507	MTAP	OMIM:112250
HP:0004348	Abnormality of bone mineral density	3758	KCNJ1	OMIM:241200
HP:0004348	Abnormality of bone mineral density	8985	PLOD3	OMIM:612394
HP:0004348	Abnormality of bone mineral density	9419	CRIPT	OMIM:615789
HP:0004348	Abnormality of bone mineral density	84701	COX4I2	OMIM:612714
HP:0004348	Abnormality of bone mineral density	4763	NF1	ORPHA:97685
HP:0004348	Abnormality of bone mineral density	5660	PSAP	OMIM:610539
HP:0004348	Abnormality of bone mineral density	538	ATP7A	ORPHA:198
HP:0004348	Abnormality of bone mineral density	9368	NHERF1	OMIM:612287
HP:0004348	Abnormality of bone mineral density	9401	RECQL4	ORPHA:221016
HP:0004348	Abnormality of bone mineral density	5205	ATP8B1	OMIM:211600
HP:0004348	Abnormality of bone mineral density	3248	HPGD	OMIM:259100
HP:0004348	Abnormality of bone mineral density	4796	TONSL	OMIM:271510
HP:0004348	Abnormality of bone mineral density	51360	MBTPS2	OMIM:301014
HP:0004348	Abnormality of bone mineral density	6872	TAF1	OMIM:300966
HP:0004348	Abnormality of bone mineral density	285590	SH3PXD2B	OMIM:249420
HP:0004348	Abnormality of bone mineral density	374879	ZNF699	OMIM:619488
HP:0004348	Abnormality of bone mineral density	10651	MTX2	OMIM:619127
HP:0004348	Abnormality of bone mineral density	51124	IER3IP1	OMIM:614231
HP:0004348	Abnormality of bone mineral density	202018	TAPT1	OMIM:616897
HP:0004348	Abnormality of bone mineral density	3557	IL1RN	OMIM:612852
HP:0004348	Abnormality of bone mineral density	6514	SLC2A2	ORPHA:2088
HP:0004348	Abnormality of bone mineral density	50485	SMARCAL1	OMIM:242900
HP:0004348	Abnormality of bone mineral density	6554	SLC10A1	OMIM:619256
HP:0004348	Abnormality of bone mineral density	7390	UROS	OMIM:263700
HP:0004348	Abnormality of bone mineral density	7390	UROS	ORPHA:79277
HP:0004348	Abnormality of bone mineral density	9365	KL	OMIM:617994
HP:0004348	Abnormality of bone mineral density	26503	SLC17A5	OMIM:269920
HP:0004348	Abnormality of bone mineral density	650	BMP2	OMIM:617877
HP:0004348	Abnormality of bone mineral density	4668	NAGA	OMIM:609241
HP:0004348	Abnormality of bone mineral density	100151683	RNU4ATAC	ORPHA:2636
HP:0004348	Abnormality of bone mineral density	10491	CRTAP	OMIM:610682
HP:0004348	Abnormality of bone mineral density	4194	MDM4	OMIM:618849
HP:0004348	Abnormality of bone mineral density	55811	ADCY10	ORPHA:2197
HP:0004348	Abnormality of bone mineral density	3295	HSD17B4	OMIM:261515
HP:0004348	Abnormality of bone mineral density	22800	RRAS2	ORPHA:648
HP:0004348	Abnormality of bone mineral density	867	CBL	ORPHA:648
HP:0004348	Abnormality of bone mineral density	8216	LZTR1	ORPHA:648
HP:0004348	Abnormality of bone mineral density	6016	RIT1	ORPHA:648
HP:0004348	Abnormality of bone mineral density	6237	RRAS	ORPHA:648
HP:0004348	Abnormality of bone mineral density	5894	RAF1	ORPHA:648
HP:0004348	Abnormality of bone mineral density	22808	MRAS	ORPHA:648
HP:0004348	Abnormality of bone mineral density	200734	SPRED2	ORPHA:648
HP:0004348	Abnormality of bone mineral density	6654	SOS1	ORPHA:648
HP:0004348	Abnormality of bone mineral density	6655	SOS2	ORPHA:648
HP:0004348	Abnormality of bone mineral density	5781	PTPN11	ORPHA:648
HP:0004348	Abnormality of bone mineral density	5922	RASA2	ORPHA:648
HP:0004348	Abnormality of bone mineral density	5479	PPIB	OMIM:259440
HP:0004348	Abnormality of bone mineral density	2263	FGFR2	ORPHA:313855
HP:0004348	Abnormality of bone mineral density	92345	NAF1	OMIM:620365
HP:0004348	Abnormality of bone mineral density	166929	SGMS2	OMIM:126550
HP:0004348	Abnormality of bone mineral density	9469	CHST3	OMIM:245600
HP:0004348	Abnormality of bone mineral density	26229	B3GAT3	OMIM:245600
HP:0004348	Abnormality of bone mineral density	375056	MIA3	OMIM:619269
HP:0004348	Abnormality of bone mineral density	7543	ZFX	OMIM:301118
HP:0004348	Abnormality of bone mineral density	80169	CTC1	OMIM:612199
HP:0004348	Abnormality of bone mineral density	9935	MAFB	OMIM:166300
HP:0004348	Abnormality of bone mineral density	25886	POC1A	OMIM:614813
HP:0004348	Abnormality of bone mineral density	871	SERPINH1	OMIM:613848
HP:0004348	Abnormality of bone mineral density	2623	GATA1	ORPHA:79277
HP:0004348	Abnormality of bone mineral density	64682	ANAPC1	ORPHA:221008
HP:0004348	Abnormality of bone mineral density	171023	ASXL1	ORPHA:98850
HP:0004348	Abnormality of bone mineral density	171023	ASXL1	ORPHA:98849
HP:0004348	Abnormality of bone mineral density	54790	TET2	ORPHA:98850
HP:0004348	Abnormality of bone mineral density	54790	TET2	ORPHA:98849
HP:0004348	Abnormality of bone mineral density	861	RUNX1	ORPHA:98850
HP:0004348	Abnormality of bone mineral density	6427	SRSF2	ORPHA:98850
HP:0004348	Abnormality of bone mineral density	6427	SRSF2	ORPHA:98849
HP:0004348	Abnormality of bone mineral density	875	CBS	ORPHA:394
HP:0004348	Abnormality of bone mineral density	875	CBS	OMIM:236200
HP:0004348	Abnormality of bone mineral density	83932	SPRTN	OMIM:616200
HP:0004348	Abnormality of bone mineral density	2100	ESR2	OMIM:618187
HP:0004348	Abnormality of bone mineral density	8838	CCN6	OMIM:208230
HP:0004348	Abnormality of bone mineral density	3815	KIT	ORPHA:98849
HP:0004348	Abnormality of bone mineral density	1736	DKC1	OMIM:305000
HP:0004348	Abnormality of bone mineral density	1736	DKC1	ORPHA:1775
HP:0004348	Abnormality of bone mineral density	80270	HSD3B7	ORPHA:79301
HP:0004348	Abnormality of bone mineral density	3909	LAMA3	ORPHA:79404
HP:0004348	Abnormality of bone mineral density	3918	LAMC2	ORPHA:79404
HP:0004348	Abnormality of bone mineral density	3914	LAMB3	ORPHA:79404
HP:0004348	Abnormality of bone mineral density	65267	WNK3	OMIM:309610
HP:0004348	Abnormality of bone mineral density	9051	PSTPIP1	OMIM:601979
HP:0004348	Abnormality of bone mineral density	4552	MTRR	ORPHA:2169
HP:0004348	Abnormality of bone mineral density	10216	PRG4	ORPHA:2848
HP:0004348	Abnormality of bone mineral density	3764	KCNJ8	ORPHA:1517
HP:0004348	Abnormality of bone mineral density	10060	ABCC9	ORPHA:1517
HP:0004348	Abnormality of bone mineral density	10060	ABCC9	OMIM:239850
HP:0004348	Abnormality of bone mineral density	57539	WDR35	ORPHA:1515
HP:0004348	Abnormality of bone mineral density	112752	IFT43	ORPHA:1515
HP:0004348	Abnormality of bone mineral density	51098	IFT52	ORPHA:1515
HP:0004348	Abnormality of bone mineral density	55764	IFT122	ORPHA:1515
HP:0004348	Abnormality of bone mineral density	55764	IFT122	OMIM:218330
HP:0004348	Abnormality of bone mineral density	535	ATP6V0A1	OMIM:619971
HP:0004348	Abnormality of bone mineral density	54453	RIN2	OMIM:613075
HP:0004348	Abnormality of bone mineral density	2538	G6PC1	OMIM:232200
HP:0004348	Abnormality of bone mineral density	93627	TBCK	OMIM:616900
HP:0004348	Abnormality of bone mineral density	93627	TBCK	ORPHA:488632
HP:0004348	Abnormality of bone mineral density	55858	TMEM165	OMIM:614727
HP:0004348	Abnormality of bone mineral density	3117	HLA-DQA1	OMIM:212750
HP:0004348	Abnormality of bone mineral density	3119	HLA-DQB1	OMIM:212750
HP:0004348	Abnormality of bone mineral density	5095	PCCA	OMIM:606054
HP:0004348	Abnormality of bone mineral density	5096	PCCB	OMIM:606054
HP:0004348	Abnormality of bone mineral density	10815	CPLX1	ORPHA:280
HP:0004348	Abnormality of bone mineral density	54872	PIGG	ORPHA:280
HP:0004348	Abnormality of bone mineral density	7469	NELFA	ORPHA:280
HP:0004348	Abnormality of bone mineral density	1487	CTBP1	ORPHA:280
HP:0004348	Abnormality of bone mineral density	3954	LETM1	ORPHA:280
HP:0004348	Abnormality of bone mineral density	7468	NSD2	ORPHA:280
HP:0004348	Abnormality of bone mineral density	5424	POLD1	OMIM:615381
HP:0004348	Abnormality of bone mineral density	2720	GLB1	OMIM:253010
HP:0004348	Abnormality of bone mineral density	7471	WNT1	ORPHA:85193
HP:0004348	Abnormality of bone mineral density	22943	DKK1	ORPHA:85193
HP:0004348	Abnormality of bone mineral density	89780	WNT3A	ORPHA:85193
HP:0004348	Abnormality of bone mineral density	6662	SOX9	ORPHA:251510
HP:0004348	Abnormality of bone mineral density	6845	VAMP7	ORPHA:251510
HP:0004348	Abnormality of bone mineral density	51741	WWOX	ORPHA:251510
HP:0004348	Abnormality of bone mineral density	4214	MAP3K1	ORPHA:251510
HP:0004348	Abnormality of bone mineral density	7490	WT1	ORPHA:251510
HP:0004348	Abnormality of bone mineral density	57647	DHX37	ORPHA:251510
HP:0004348	Abnormality of bone mineral density	6736	SRY	ORPHA:251510
HP:0004348	Abnormality of bone mineral density	23414	ZFPM2	ORPHA:251510
HP:0004348	Abnormality of bone mineral density	190	NR0B1	ORPHA:251510
HP:0004348	Abnormality of bone mineral density	2626	GATA4	ORPHA:251510
HP:0004348	Abnormality of bone mineral density	26834	RNU4-2	OMIM:620851
HP:0004348	Abnormality of bone mineral density	2074	ERCC6	OMIM:214150
HP:0004348	Abnormality of bone mineral density	2074	ERCC6	OMIM:133540
HP:0004348	Abnormality of bone mineral density	1798	DPAGT1	ORPHA:86309
HP:0004348	Abnormality of bone mineral density	213	ALB	OMIM:616000
HP:0004348	Abnormality of bone mineral density	540	ATP7B	ORPHA:905
HP:0004348	Abnormality of bone mineral density	540	ATP7B	OMIM:277900
HP:0004348	Abnormality of bone mineral density	79798	ARMC5	OMIM:615954
HP:0004348	Abnormality of bone mineral density	79798	ARMC5	ORPHA:189427
HP:0004348	Abnormality of bone mineral density	5428	POLG	OMIM:203700
HP:0004348	Abnormality of bone mineral density	5428	POLG	ORPHA:254892
HP:0004348	Abnormality of bone mineral density	6134	RPL10	ORPHA:459070
HP:0004348	Abnormality of bone mineral density	6134	RPL10	OMIM:300998
HP:0004348	Abnormality of bone mineral density	799	CALCR	OMIM:166710
HP:0004348	Abnormality of bone mineral density	8572	PDLIM4	OMIM:166710
HP:0004348	Abnormality of bone mineral density	4040	LRP6	OMIM:610947
HP:0004348	Abnormality of bone mineral density	9321	TRIP11	OMIM:184260
HP:0004348	Abnormality of bone mineral density	5159	PDGFRB	OMIM:601812
HP:0004348	Abnormality of bone mineral density	23028	KDM1A	ORPHA:189427
HP:0004348	Abnormality of bone mineral density	6714	SRC	OMIM:616937
HP:0004348	Abnormality of bone mineral density	124583	CANT1	OMIM:251450
HP:0004348	Abnormality of bone mineral density	11107	PRDM5	ORPHA:90354
HP:0004348	Abnormality of bone mineral density	84627	ZNF469	ORPHA:90354
HP:0004348	Abnormality of bone mineral density	9968	MED12	OMIM:301068
HP:0004348	Abnormality of bone mineral density	55275	VPS53	OMIM:615851
HP:0004348	Abnormality of bone mineral density	6611	SMS	OMIM:309583
HP:0004348	Abnormality of bone mineral density	6611	SMS	ORPHA:3063
HP:0004348	Abnormality of bone mineral density	654	BMP6	ORPHA:465508
HP:0004348	Abnormality of bone mineral density	7048	TGFBR2	OMIM:610168
HP:0004348	Abnormality of bone mineral density	5256	PHKA2	ORPHA:264580
HP:0004348	Abnormality of bone mineral density	5261	PHKG2	ORPHA:264580
HP:0004348	Abnormality of bone mineral density	93587	TRMT10A	OMIM:616033
HP:0004348	Abnormality of bone mineral density	6778	STAT6	OMIM:620532
HP:0004348	Abnormality of bone mineral density	6309	SC5D	OMIM:607330
HP:0004348	Abnormality of bone mineral density	291	SLC25A4	ORPHA:254892
HP:0004348	Abnormality of bone mineral density	56652	TWNK	ORPHA:254892
HP:0004348	Abnormality of bone mineral density	11232	POLG2	ORPHA:254892
HP:0004348	Abnormality of bone mineral density	50484	RRM2B	ORPHA:254892
HP:0004348	Abnormality of bone mineral density	5193	PEX12	OMIM:266510
HP:0004348	Abnormality of bone mineral density	51103	NDUFAF1	OMIM:618234
HP:0004348	Abnormality of bone mineral density	7012	TERC	OMIM:127550
HP:0004348	Abnormality of bone mineral density	7012	TERC	ORPHA:1775
HP:0004348	Abnormality of bone mineral density	2710	GK	OMIM:307030
HP:0004348	Abnormality of bone mineral density	427	ASAH1	ORPHA:333
HP:0004348	Abnormality of bone mineral density	84196	USP48	ORPHA:96253
HP:0004348	Abnormality of bone mineral density	7157	TP53	ORPHA:96253
HP:0004348	Abnormality of bone mineral density	9101	USP8	ORPHA:96253
HP:0004348	Abnormality of bone mineral density	9101	USP8	OMIM:219090
HP:0004348	Abnormality of bone mineral density	2908	NR3C1	ORPHA:96253
HP:0004348	Abnormality of bone mineral density	546	ATRX	ORPHA:96253
HP:0004348	Abnormality of bone mineral density	22930	RAB3GAP1	OMIM:600118
HP:0004348	Abnormality of bone mineral density	5257	PHKB	ORPHA:79240
HP:0004348	Abnormality of bone mineral density	6578	SLCO2A1	ORPHA:2796
HP:0004348	Abnormality of bone mineral density	9451	EIF2AK3	OMIM:226980
HP:0004348	Abnormality of bone mineral density	23395	LARS2	OMIM:615300
HP:0004348	Abnormality of bone mineral density	57817	HAMP	ORPHA:79230
HP:0004348	Abnormality of bone mineral density	148738	HJV	ORPHA:79230
HP:0004348	Abnormality of bone mineral density	60386	SLC25A19	ORPHA:99742
HP:0004348	Abnormality of bone mineral density	9150	CTDP1	ORPHA:48431
HP:0004348	Abnormality of bone mineral density	55505	NOP10	OMIM:224230
HP:0004348	Abnormality of bone mineral density	55505	NOP10	ORPHA:1775
HP:0004348	Abnormality of bone mineral density	55651	NHP2	OMIM:224230
HP:0004348	Abnormality of bone mineral density	55651	NHP2	ORPHA:1775
HP:0004348	Abnormality of bone mineral density	2588	GALNS	OMIM:253000
HP:0004348	Abnormality of bone mineral density	3594	IL12RB1	ORPHA:186
HP:0004348	Abnormality of bone mineral density	23534	TNPO3	ORPHA:186
HP:0004348	Abnormality of bone mineral density	3592	IL12A	ORPHA:186
HP:0004348	Abnormality of bone mineral density	6689	SPIB	ORPHA:186
HP:0004348	Abnormality of bone mineral density	5450	POU2AF1	ORPHA:186
HP:0004348	Abnormality of bone mineral density	9966	TNFSF15	ORPHA:186
HP:0004348	Abnormality of bone mineral density	79258	MMEL1	ORPHA:186
HP:0004348	Abnormality of bone mineral density	3663	IRF5	ORPHA:186
HP:0004348	Abnormality of bone mineral density	100147744	RNU7-1	OMIM:619487
HP:0004348	Abnormality of bone mineral density	79983	POF1B	OMIM:300604
HP:0004348	Abnormality of bone mineral density	6329	SCN4A	OMIM:620351
HP:0004348	Abnormality of bone mineral density	55252	ASXL2	OMIM:617190
HP:0004348	Abnormality of bone mineral density	11014	KDELR2	OMIM:619131
HP:0004348	Abnormality of bone mineral density	10479	SLC9A6	ORPHA:85278
HP:0004348	Abnormality of bone mineral density	8815	BANF1	OMIM:614008
HP:0004348	Abnormality of bone mineral density	79650	USB1	ORPHA:1775
HP:0004348	Abnormality of bone mineral density	55135	WRAP53	ORPHA:1775
HP:0004348	Abnormality of bone mineral density	51750	RTEL1	ORPHA:1775
HP:0004348	Abnormality of bone mineral density	4869	NPM1	ORPHA:1775
HP:0004348	Abnormality of bone mineral density	5073	PARN	ORPHA:1775
HP:0004348	Abnormality of bone mineral density	7298	TYMS	ORPHA:1775
HP:0004348	Abnormality of bone mineral density	10892	MALT1	OMIM:615468
HP:0004348	Abnormality of bone mineral density	121340	SP7	OMIM:613849
HP:0004348	Abnormality of bone mineral density	23387	SIK3	OMIM:618162
HP:0004348	Abnormality of bone mineral density	54	ACP5	OMIM:607944
HP:0004348	Abnormality of bone mineral density	4854	NOTCH3	OMIM:130720
HP:0004348	Abnormality of bone mineral density	79639	TMEM53	OMIM:619727
HP:0004348	Abnormality of bone mineral density	6885	MAP3K7	ORPHA:1826
HP:0004348	Abnormality of bone mineral density	26040	SETBP1	OMIM:269150
HP:0004348	Abnormality of bone mineral density	26040	SETBP1	ORPHA:798
HP:0004348	Abnormality of bone mineral density	388015	RTL1	ORPHA:96334
HP:0004348	Abnormality of bone mineral density	8788	DLK1	ORPHA:96334
HP:0004348	Abnormality of bone mineral density	55384	MEG3	ORPHA:96334
HP:0004348	Abnormality of bone mineral density	1497	CTNS	OMIM:219800
HP:0004348	Abnormality of bone mineral density	1497	CTNS	ORPHA:411629
HP:0004348	Abnormality of bone mineral density	1497	CTNS	OMIM:219900
HP:0004348	Abnormality of bone mineral density	8074	FGF23	ORPHA:89937
HP:0004348	Abnormality of bone mineral density	8074	FGF23	OMIM:193100
HP:0004348	Abnormality of bone mineral density	1184	CLCN5	OMIM:300554
HP:0004348	Abnormality of bone mineral density	1184	CLCN5	OMIM:300009
HP:0004348	Abnormality of bone mineral density	6521	SLC4A1	OMIM:611590
HP:0004348	Abnormality of bone mineral density	1594	CYP27B1	ORPHA:289157
HP:0004348	Abnormality of bone mineral density	1594	CYP27B1	OMIM:264700
HP:0004348	Abnormality of bone mineral density	120227	CYP2R1	ORPHA:289157
HP:0004348	Abnormality of bone mineral density	120227	CYP2R1	OMIM:600081
HP:0004348	Abnormality of bone mineral density	570	BAAT	OMIM:619232
HP:0004348	Abnormality of bone mineral density	249	ALPL	OMIM:146300
HP:0004348	Abnormality of bone mineral density	4952	OCRL	OMIM:309000
HP:0004348	Abnormality of bone mineral density	6718	AKR1D1	ORPHA:79303
HP:0004348	Abnormality of bone mineral density	2628	GATM	OMIM:134600
HP:0004348	Abnormality of bone mineral density	10686	CLDN16	OMIM:248250
HP:0004348	Abnormality of bone mineral density	1962	EHHADH	OMIM:615605
HP:0004348	Abnormality of bone mineral density	9414	TJP2	OMIM:607748
HP:0004348	Abnormality of bone mineral density	3172	HNF4A	OMIM:616026
HP:0004348	Abnormality of bone mineral density	50617	ATP6V0A4	OMIM:602722
HP:0004348	Abnormality of bone mineral density	7421	VDR	OMIM:277440
HP:0004348	Abnormality of bone mineral density	368	ABCC6	ORPHA:51608
HP:0004348	Abnormality of bone mineral density	6850	SYK	OMIM:619381
HP:0004348	Abnormality of bone mineral density	1175	AP2S1	OMIM:600740
HP:0004348	Abnormality of bone mineral density	137682	NDUFAF6	ORPHA:3337
HP:0004348	Abnormality of bone mineral density	10568	SLC34A2	ORPHA:60025
HP:0004348	Abnormality of bone mineral density	55733	HHAT	ORPHA:1422
HP:0004348	Abnormality of bone mineral density	5934	RBL2	OMIM:619690
HP:0004348	Abnormality of bone mineral density	1436	CSF1R	OMIM:618476
HP:0004348	Abnormality of bone mineral density	9790	BMS1	ORPHA:1114
HP:0004348	Abnormality of bone mineral density	5339	PLEC	ORPHA:1114
HP:0004348	Abnormality of bone mineral density	10054	UBA2	ORPHA:1114
HP:0004348	Abnormality of bone mineral density	3691	ITGB4	ORPHA:1114
HP:0004348	Abnormality of bone mineral density	54567	DLL4	ORPHA:1114
HP:0004348	Abnormality of bone mineral density	55325	UFSP2	ORPHA:2114
HP:0004348	Abnormality of bone mineral density	84172	POLR1B	ORPHA:861
HP:0004348	Abnormality of bone mineral density	9533	POLR1C	ORPHA:861
HP:0004348	Abnormality of bone mineral density	51082	POLR1D	ORPHA:861
HP:0004348	Abnormality of bone mineral density	6949	TCOF1	ORPHA:861
HP:0004348	Abnormality of bone mineral density	10312	TCIRG1	ORPHA:210110
HP:0004348	Abnormality of bone mineral density	1186	CLCN7	ORPHA:210110
HP:0004348	Abnormality of bone mineral density	9842	PLEKHM1	ORPHA:210110
HP:0004348	Abnormality of bone mineral density	26146	TRAF3IP1	ORPHA:3156
HP:0004348	Abnormality of bone mineral density	9657	IQCB1	ORPHA:3156
HP:0004348	Abnormality of bone mineral density	10806	SDCCAG8	ORPHA:3156
HP:0004348	Abnormality of bone mineral density	27130	INVS	ORPHA:3156
HP:0004348	Abnormality of bone mineral density	80184	CEP290	ORPHA:3156
HP:0004348	Abnormality of bone mineral density	4867	NPHP1	ORPHA:3156
HP:0004348	Abnormality of bone mineral density	261734	NPHP4	ORPHA:3156
HP:0004348	Abnormality of bone mineral density	57728	WDR19	ORPHA:3156
HP:0004348	Abnormality of bone mineral density	27031	NPHP3	ORPHA:3156
HP:0004348	Abnormality of bone mineral density	22897	CEP164	ORPHA:3156
HP:0004348	Abnormality of bone mineral density	1501	CTNND2	ORPHA:281
HP:0004348	Abnormality of bone mineral density	9037	SEMA5A	ORPHA:281
HP:0004348	Abnormality of bone mineral density	55636	CHD7	ORPHA:138
HP:0004348	Abnormality of bone mineral density	9723	SEMA3E	ORPHA:138
HP:0004348	Abnormality of bone mineral density	79879	CCDC134	OMIM:619795
HP:0004348	Abnormality of bone mineral density	2132	EXT2	OMIM:616682
HP:0004348	Abnormality of bone mineral density	2132	EXT2	ORPHA:466926
HP:0004348	Abnormality of bone mineral density	2335	FN1	ORPHA:93315
HP:0004348	Abnormality of bone mineral density	1280	COL2A1	ORPHA:93315
HP:0004348	Abnormality of bone mineral density	1280	COL2A1	ORPHA:94068
HP:0004348	Abnormality of bone mineral density	4010	LMX1B	ORPHA:2614
HP:0004348	Abnormality of bone mineral density	652	BMP4	ORPHA:828
HP:0004348	Abnormality of bone mineral density	2767	GNA11	ORPHA:428
HP:0004348	Abnormality of bone mineral density	2767	GNA11	ORPHA:1556
HP:0004348	Abnormality of bone mineral density	846	CASR	ORPHA:428
HP:0004348	Abnormality of bone mineral density	29887	SNX10	ORPHA:667
HP:0004348	Abnormality of bone mineral density	8600	TNFSF11	ORPHA:667
HP:0004348	Abnormality of bone mineral density	9131	AIFM1	ORPHA:83629
HP:0004348	Abnormality of bone mineral density	221496	LEMD2	OMIM:619322
HP:0004348	Abnormality of bone mineral density	1528	CYB5A	ORPHA:90796
HP:0004348	Abnormality of bone mineral density	1586	CYP17A1	ORPHA:90796
HP:0004348	Abnormality of bone mineral density	7486	WRN	OMIM:277700
HP:0004348	Abnormality of bone mineral density	55768	NGLY1	ORPHA:404454
HP:0004348	Abnormality of bone mineral density	6335	SCN9A	ORPHA:970
HP:0004348	Abnormality of bone mineral density	65125	WNK1	ORPHA:970
HP:0004348	Abnormality of bone mineral density	54463	RETREG1	ORPHA:970
HP:0004348	Abnormality of bone mineral density	547	KIF1A	ORPHA:970
HP:0004348	Abnormality of bone mineral density	2592	GALT	ORPHA:79239
HP:0004348	Abnormality of bone mineral density	9698	PUM1	OMIM:620719
HP:0004348	Abnormality of bone mineral density	672	BRCA1	ORPHA:84
HP:0004348	Abnormality of bone mineral density	10459	MAD2L2	ORPHA:84
HP:0004348	Abnormality of bone mineral density	7516	XRCC2	ORPHA:84
HP:0004348	Abnormality of bone mineral density	29089	UBE2T	ORPHA:84
HP:0004348	Abnormality of bone mineral density	675	BRCA2	ORPHA:84
HP:0004348	Abnormality of bone mineral density	55120	FANCL	ORPHA:84
HP:0004348	Abnormality of bone mineral density	2177	FANCD2	ORPHA:84
HP:0004348	Abnormality of bone mineral density	2175	FANCA	ORPHA:84
HP:0004348	Abnormality of bone mineral density	2187	FANCB	ORPHA:84
HP:0004348	Abnormality of bone mineral density	2176	FANCC	ORPHA:84
HP:0004348	Abnormality of bone mineral density	2178	FANCE	ORPHA:84
HP:0004348	Abnormality of bone mineral density	2188	FANCF	ORPHA:84
HP:0004348	Abnormality of bone mineral density	2189	FANCG	ORPHA:84
HP:0004348	Abnormality of bone mineral density	5888	RAD51	ORPHA:84
HP:0004348	Abnormality of bone mineral density	5889	RAD51C	ORPHA:84
HP:0004348	Abnormality of bone mineral density	55159	RFWD3	ORPHA:84
HP:0004348	Abnormality of bone mineral density	83990	BRIP1	ORPHA:84
HP:0004348	Abnormality of bone mineral density	57697	FANCM	ORPHA:84
HP:0004348	Abnormality of bone mineral density	79728	PALB2	ORPHA:84
HP:0004348	Abnormality of bone mineral density	84464	SLX4	ORPHA:84
HP:0004348	Abnormality of bone mineral density	2072	ERCC4	ORPHA:84
HP:0004348	Abnormality of bone mineral density	55215	FANCI	ORPHA:84
HP:0004348	Abnormality of bone mineral density	6678	SPARC	OMIM:616507
HP:0004348	Abnormality of bone mineral density	51608	GET4	OMIM:620200
HP:0004348	Abnormality of bone mineral density	2717	GLA	ORPHA:324
HP:0004348	Abnormality of bone mineral density	1583	CYP11A1	ORPHA:289548
HP:0004348	Abnormality of bone mineral density	1583	CYP11A1	ORPHA:168558
HP:0004348	Abnormality of bone mineral density	4784	NFIX	ORPHA:561
HP:0004348	Abnormality of bone mineral density	114548	NLRP3	ORPHA:1451
HP:0004348	Abnormality of bone mineral density	649	BMP1	OMIM:614856
HP:0004348	Abnormality of bone mineral density	1277	COL1A1	OMIM:166220
HP:0004348	Abnormality of bone mineral density	1277	COL1A1	OMIM:619115
HP:0004348	Abnormality of bone mineral density	1278	COL1A2	OMIM:166220
HP:0004348	Abnormality of bone mineral density	4000	LMNA	ORPHA:79474
HP:0004348	Abnormality of bone mineral density	4000	LMNA	ORPHA:740
HP:0004348	Abnormality of bone mineral density	8883	NAE1	OMIM:620210
HP:0004348	Abnormality of bone mineral density	2395	FXN	ORPHA:95
HP:0004348	Abnormality of bone mineral density	5251	PHEX	ORPHA:89936
HP:0004348	Abnormality of bone mineral density	6424	SFRP4	OMIM:265900
HP:0004348	Abnormality of bone mineral density	5034	P4HB	OMIM:112240
HP:0004348	Abnormality of bone mineral density	134218	DNAJC21	OMIM:617052
HP:0004348	Abnormality of bone mineral density	5604	MAP2K1	OMIM:615279
HP:0004348	Abnormality of bone mineral density	7305	TYROBP	ORPHA:2770
HP:0004348	Abnormality of bone mineral density	54209	TREM2	ORPHA:2770
HP:0004348	Abnormality of bone mineral density	10056	FARSB	OMIM:613658
HP:0004348	Abnormality of bone mineral density	5184	PEPD	ORPHA:742
HP:0004348	Abnormality of bone mineral density	8720	MBTPS1	OMIM:618392
HP:0004348	Abnormality of bone mineral density	10269	ZMPSTE24	ORPHA:740
HP:0004348	Abnormality of bone mineral density	26137	ZBTB20	OMIM:259050
HP:0004348	Abnormality of bone mineral density	3043	HBB	ORPHA:231222
HP:0004348	Abnormality of bone mineral density	60676	PAPPA2	OMIM:619489
HP:0004348	Abnormality of bone mineral density	23187	PHLDB1	OMIM:620639
HP:0004348	Abnormality of bone mineral density	51163	DBR1	OMIM:620510
HP:0004348	Abnormality of bone mineral density	4773	NFATC2	OMIM:620232
HP:0004348	Abnormality of bone mineral density	151188	ARL6IP6	ORPHA:1556
HP:0004348	Abnormality of bone mineral density	4221	MEN1	ORPHA:652
HP:0004348	Abnormality of bone mineral density	1027	CDKN1B	ORPHA:652
HP:0004348	Abnormality of bone mineral density	1026	CDKN1A	ORPHA:652
HP:0004348	Abnormality of bone mineral density	1030	CDKN2B	ORPHA:652
HP:0004348	Abnormality of bone mineral density	1031	CDKN2C	ORPHA:652
HP:0004348	Abnormality of bone mineral density	4693	NDP	ORPHA:891
HP:0004348	Abnormality of bone mineral density	1499	CTNNB1	ORPHA:891
HP:0004348	Abnormality of bone mineral density	23554	TSPAN12	ORPHA:891
HP:0004348	Abnormality of bone mineral density	4041	LRP5	ORPHA:891
HP:0004348	Abnormality of bone mineral density	79797	ZNF408	ORPHA:891
HP:0004348	Abnormality of bone mineral density	8322	FZD4	ORPHA:891
HP:0004348	Abnormality of bone mineral density	55898	UNC45A	OMIM:619377
HP:0004348	Abnormality of bone mineral density	142680	SLC34A3	ORPHA:157215
HP:0004348	Abnormality of bone mineral density	6569	SLC34A1	ORPHA:157215
HP:0004348	Abnormality of bone mineral density	8481	OFD1	ORPHA:2750
HP:0004348	Abnormality of bone mineral density	2778	GNAS	ORPHA:79443
HP:0004348	Abnormality of bone mineral density	3081	HGD	ORPHA:56
HP:0004348	Abnormality of bone mineral density	29893	PSMC3IP	ORPHA:243
HP:0004348	Abnormality of bone mineral density	171568	POLR3H	ORPHA:243
HP:0004348	Abnormality of bone mineral density	2516	NR5A1	ORPHA:243
HP:0004348	Abnormality of bone mineral density	125150	ZSWIM7	ORPHA:243
HP:0004348	Abnormality of bone mineral density	9210	BMP15	ORPHA:243
HP:0004348	Abnormality of bone mineral density	57122	NUP107	ORPHA:243
HP:0004348	Abnormality of bone mineral density	23514	SPIDR	ORPHA:243
HP:0004348	Abnormality of bone mineral density	2492	FSHR	ORPHA:243
HP:0004348	Abnormality of bone mineral density	56945	MRPS22	ORPHA:243
HP:0004348	Abnormality of bone mineral density	646	BNC1	ORPHA:243
HP:0004348	Abnormality of bone mineral density	4438	MSH4	ORPHA:243
HP:0004348	Abnormality of bone mineral density	4982	TNFRSF11B	ORPHA:1416
HP:0004348	Abnormality of bone mineral density	56172	ANKH	ORPHA:1416
HP:0004348	Abnormality of bone mineral density	2260	FGFR1	ORPHA:478
HP:0004348	Abnormality of bone mineral density	10371	SEMA3A	ORPHA:478
HP:0004348	Abnormality of bone mineral density	81848	SPRY4	ORPHA:478
HP:0004348	Abnormality of bone mineral density	23767	FLRT3	ORPHA:478
HP:0004348	Abnormality of bone mineral density	128674	PROKR2	ORPHA:478
HP:0004348	Abnormality of bone mineral density	79625	NDNF	ORPHA:478
HP:0004348	Abnormality of bone mineral density	2253	FGF8	ORPHA:478
HP:0004348	Abnormality of bone mineral density	389549	FEZF1	ORPHA:478
HP:0004348	Abnormality of bone mineral density	1630	DCC	ORPHA:478
HP:0004348	Abnormality of bone mineral density	3730	ANOS1	ORPHA:478
HP:0004348	Abnormality of bone mineral density	54756	IL17RD	ORPHA:478
HP:0004348	Abnormality of bone mineral density	6663	SOX10	ORPHA:478
HP:0004348	Abnormality of bone mineral density	285025	CCDC141	ORPHA:478
HP:0004348	Abnormality of bone mineral density	60675	PROK2	ORPHA:478
HP:0004348	Abnormality of bone mineral density	1848	DUSP6	ORPHA:478
HP:0004348	Abnormality of bone mineral density	6870	TACR3	ORPHA:478
HP:0004348	Abnormality of bone mineral density	55717	WDR11	ORPHA:478
HP:0004348	Abnormality of bone mineral density	9394	HS6ST1	ORPHA:478
HP:0004348	Abnormality of bone mineral density	8820	HESX1	ORPHA:478
HP:0004348	Abnormality of bone mineral density	8822	FGF17	ORPHA:478
HP:0004348	Abnormality of bone mineral density	84181	CHD6	ORPHA:2108
HP:0004348	Abnormality of bone mineral density	5728	PTEN	ORPHA:137608
HP:0004348	Abnormality of bone mineral density	4322	MMP13	ORPHA:2501
HP:0004348	Abnormality of bone mineral density	7415	VCP	ORPHA:329475
HP:0004348	Abnormality of bone mineral density	5442	POLRMT	OMIM:619743
HP:0004348	Abnormality of bone mineral density	4665	NAB2	ORPHA:2126
HP:0004348	Abnormality of bone mineral density	6660	SOX5	ORPHA:626
HP:0004348	Abnormality of bone mineral density	238	ALK	ORPHA:626
HP:0004348	Abnormality of bone mineral density	9839	ZEB2	ORPHA:626
HP:0004348	Abnormality of bone mineral density	2184	FAH	OMIM:276700
HP:0004348	Abnormality of bone mineral density	8905	AP1S2	OMIM:304340
HP:0004348	Abnormality of bone mineral density	1855	DVL1	OMIM:616331
HP:0004348	Abnormality of bone mineral density	6905	TBCE	ORPHA:2323
HP:0004348	Abnormality of bone mineral density	6905	TBCE	OMIM:241410
HP:0004348	Abnormality of bone mineral density	8878	SQSTM1	OMIM:167250
HP:0004348	Abnormality of bone mineral density	23516	SLC39A14	OMIM:144755
HP:0004348	Abnormality of bone mineral density	65992	DDRGK1	ORPHA:93352
HP:0004348	Abnormality of bone mineral density	10682	EBP	OMIM:302960
HP:0004348	Abnormality of bone mineral density	1161	ERCC8	OMIM:216400
HP:0004348	Abnormality of bone mineral density	10847	SRCAP	OMIM:136140
HP:0004348	Abnormality of bone mineral density	3930	LBR	OMIM:215140
HP:0004348	Abnormality of bone mineral density	8091	HMGA2	ORPHA:94063
HP:0004348	Abnormality of bone mineral density	1718	DHCR24	OMIM:602398
HP:0004348	Abnormality of bone mineral density	1718	DHCR24	ORPHA:35107
HP:0004348	Abnormality of bone mineral density	6399	TRAPPC2	ORPHA:93284
HP:0004348	Abnormality of bone mineral density	79705	LRRK1	OMIM:615198
HP:0004348	Abnormality of bone mineral density	23592	LEMD3	ORPHA:166119
HP:0004348	Abnormality of bone mineral density	9791	PTDSS1	ORPHA:2658
HP:0004348	Abnormality of bone mineral density	189	AGXT	OMIM:259900
HP:0004348	Abnormality of bone mineral density	6804	STX1A	ORPHA:904
HP:0004348	Abnormality of bone mineral density	7461	CLIP2	ORPHA:904
HP:0004348	Abnormality of bone mineral density	84277	DNAJC30	ORPHA:904
HP:0004348	Abnormality of bone mineral density	8468	FKBP6	ORPHA:904
HP:0004348	Abnormality of bone mineral density	5982	RFC2	ORPHA:904
HP:0004348	Abnormality of bone mineral density	2969	GTF2I	ORPHA:904
HP:0004348	Abnormality of bone mineral density	3984	LIMK1	ORPHA:904
HP:0004348	Abnormality of bone mineral density	9569	GTF2IRD1	ORPHA:904
HP:0004348	Abnormality of bone mineral density	155382	VPS37D	ORPHA:904
HP:0004348	Abnormality of bone mineral density	155368	METTL27	ORPHA:904
HP:0004348	Abnormality of bone mineral density	114049	BUD23	ORPHA:904
HP:0004348	Abnormality of bone mineral density	7458	EIF4H	ORPHA:904
HP:0004348	Abnormality of bone mineral density	84163	GTF2IRD2	ORPHA:904
HP:0004348	Abnormality of bone mineral density	26608	TBL2	ORPHA:904
HP:0004348	Abnormality of bone mineral density	653361	NCF1	ORPHA:904
HP:0004348	Abnormality of bone mineral density	135886	TMEM270	ORPHA:904
HP:0004348	Abnormality of bone mineral density	9031	BAZ1B	ORPHA:904
HP:0004348	Abnormality of bone mineral density	2006	ELN	ORPHA:904
HP:0004348	Abnormality of bone mineral density	6916	TBXAS1	OMIM:231095
HP:0004348	Abnormality of bone mineral density	1836	SLC26A2	ORPHA:628
HP:0004348	Abnormality of bone mineral density	8675	STX16	ORPHA:94089
HP:0004348	Abnormality of bone mineral density	1747	DLX3	OMIM:190320
HP:0004348	Abnormality of bone mineral density	1747	DLX3	ORPHA:3352
HP:0004348	Abnormality of bone mineral density	8312	AXIN1	OMIM:620558
HP:0004348	Abnormality of bone mineral density	4286	MITF	OMIM:617306
HP:0004348	Abnormality of bone mineral density	56975	FAM20C	OMIM:259775
HP:0004348	Abnormality of bone mineral density	9663	LPIN2	ORPHA:77297
HP:0004348	Abnormality of bone mineral density	1513	CTSK	OMIM:265800
HP:0004348	Abnormality of bone mineral density	1513	CTSK	ORPHA:763
HP:0004348	Abnormality of bone mineral density	1758	DMP1	ORPHA:289176
HP:0004348	Abnormality of bone mineral density	1758	DMP1	OMIM:241520
HP:0004348	Abnormality of bone mineral density	5167	ENPP1	ORPHA:289176
HP:0004348	Abnormality of bone mineral density	7040	TGFB1	OMIM:131300
HP:0004348	Abnormality of bone mineral density	4160	MC4R	OMIM:618406
HP:0004348	Abnormality of bone mineral density	55315	SLC29A3	ORPHA:1782
HP:0004348	Abnormality of bone mineral density	8792	TNFRSF11A	ORPHA:1782
HP:0004348	Abnormality of bone mineral density	2961	GTF2E2	OMIM:616943
HP:0004348	Abnormality of bone mineral density	2961	GTF2E2	ORPHA:33364
HP:0004348	Abnormality of bone mineral density	63901	FAM111A	OMIM:127000
HP:0004348	Abnormality of bone mineral density	6522	SLC4A2	OMIM:620366
HP:0004348	Abnormality of bone mineral density	404672	GTF2H5	ORPHA:33364
HP:0004348	Abnormality of bone mineral density	833	CARS1	ORPHA:33364
HP:0004348	Abnormality of bone mineral density	2068	ERCC2	ORPHA:33364
HP:0004348	Abnormality of bone mineral density	7737	RNF113A	ORPHA:33364
HP:0004348	Abnormality of bone mineral density	136647	MPLKIP	ORPHA:33364
HP:0004348	Abnormality of bone mineral density	6897	TARS1	ORPHA:33364
HP:0004348	Abnormality of bone mineral density	16	AARS1	ORPHA:33364
HP:0004348	Abnormality of bone mineral density	2071	ERCC3	ORPHA:33364
HP:0004348	Abnormality of bone mineral density	3339	HSPG2	ORPHA:800
HP:0004348	Abnormality of bone mineral density	28962	OSTM1	OMIM:259720
HP:0004348	Abnormality of bone mineral density	4038	LRP4	ORPHA:3152
HP:0004348	Abnormality of bone mineral density	50964	SOST	ORPHA:3152
HP:0004348	Abnormality of bone mineral density	2629	GBA1	ORPHA:77261
HP:0004348	Abnormality of bone mineral density	860	RUNX2	OMIM:119600
HP:0004348	Abnormality of bone mineral density	5745	PTH1R	ORPHA:50945
HP:0004348	Abnormality of bone mineral density	139285	AMER1	ORPHA:2780
HP:0004348	Abnormality of bone mineral density	2316	FLNA	ORPHA:90650
HP:0004348	Abnormality of bone mineral density	2316	FLNA	ORPHA:90652
HP:0004348	Abnormality of bone mineral density	3735	KARS1	ORPHA:3240
HP:0004348	Abnormality of bone mineral density	2697	GJA1	ORPHA:1522
HP:0004348	Abnormality of bone mineral density	83706	FERMT3	OMIM:612840
HP:0004348	Abnormality of bone mineral density	760	CA2	OMIM:259730
HP:0004348	Abnormality of bone mineral density	760	CA2	ORPHA:2785
HP:0004348	Abnormality of bone mineral density	59341	TRPV4	OMIM:184095
HP:0004348	Abnormality of bone mineral density	55603	TENT5A	OMIM:617952
HP:0004348	Abnormality of bone mineral density	5654	HTRA1	ORPHA:199354
HP:0030402	Abnormal platelet aggregation	861	RUNX1	OMIM:601399
HP:0030402	Abnormal platelet aggregation	3674	ITGA2B	OMIM:187800
HP:0030402	Abnormal platelet aggregation	3674	ITGA2B	OMIM:273800
HP:0030402	Abnormal platelet aggregation	4247	MGAT2	ORPHA:79329
HP:0030402	Abnormal platelet aggregation	7450	VWF	OMIM:193400
HP:0030402	Abnormal platelet aggregation	7450	VWF	OMIM:277480
HP:0030402	Abnormal platelet aggregation	84343	HPS3	OMIM:614072
HP:0030402	Abnormal platelet aggregation	388552	BLOC1S3	OMIM:614077
HP:0030402	Abnormal platelet aggregation	5321	PLA2G4A	OMIM:618372
HP:0030402	Abnormal platelet aggregation	3758	KCNJ1	OMIM:241200
HP:0030402	Abnormal platelet aggregation	2623	GATA1	OMIM:300835
HP:0030402	Abnormal platelet aggregation	2313	FLI1	OMIM:617443
HP:0030402	Abnormal platelet aggregation	84062	DTNBP1	OMIM:614076
HP:0030402	Abnormal platelet aggregation	81027	TUBB1	OMIM:613112
HP:0030402	Abnormal platelet aggregation	1729	DIAPH1	OMIM:124900
HP:0030402	Abnormal platelet aggregation	64241	ABCG8	OMIM:210250
HP:0030402	Abnormal platelet aggregation	3690	ITGB3	OMIM:619271
HP:0030402	Abnormal platelet aggregation	3690	ITGB3	OMIM:619267
HP:0030402	Abnormal platelet aggregation	3690	ITGB3	ORPHA:849
HP:0030402	Abnormal platelet aggregation	64376	IKZF5	OMIM:619130
HP:0030402	Abnormal platelet aggregation	4627	MYH9	OMIM:155100
HP:0030402	Abnormal platelet aggregation	2811	GP1BA	OMIM:153670
HP:0030402	Abnormal platelet aggregation	10019	SH2B3	OMIM:187950
HP:0030402	Abnormal platelet aggregation	811	CALR	OMIM:187950
HP:0030402	Abnormal platelet aggregation	11234	HPS5	OMIM:614074
HP:0030402	Abnormal platelet aggregation	87	ACTN1	OMIM:615193
HP:0030402	Abnormal platelet aggregation	79803	HPS6	OMIM:614075
HP:0030402	Abnormal platelet aggregation	2048	EPHB2	OMIM:618462
HP:0030402	Abnormal platelet aggregation	10235	RASGRP2	OMIM:615888
HP:0030402	Abnormal platelet aggregation	64805	P2RY12	OMIM:609821
HP:0030402	Abnormal platelet aggregation	7171	TPM4	OMIM:620486
HP:0030402	Abnormal platelet aggregation	8546	AP3B1	OMIM:608233
HP:0030402	Abnormal platelet aggregation	5328	PLAU	OMIM:601709
HP:0030402	Abnormal platelet aggregation	8328	GFI1B	OMIM:187900
HP:0030402	Abnormal platelet aggregation	63915	BLOC1S5	OMIM:619172
HP:0030402	Abnormal platelet aggregation	493856	CISD2	OMIM:604928
HP:0030402	Abnormal platelet aggregation	3937	LCP2	OMIM:619374
HP:0030402	Abnormal platelet aggregation	51206	GP6	OMIM:614201
HP:0030402	Abnormal platelet aggregation	23218	NBEAL2	OMIM:139090
HP:0030402	Abnormal platelet aggregation	6915	TBXA2R	OMIM:614009
HP:0030402	Abnormal platelet aggregation	2815	GP9	OMIM:231200
HP:0030402	Abnormal platelet aggregation	2815	GP9	ORPHA:274
HP:0030402	Abnormal platelet aggregation	2812	GP1BB	OMIM:231200
HP:0030402	Abnormal platelet aggregation	2812	GP1BB	ORPHA:274
HP:0030402	Abnormal platelet aggregation	7066	THPO	OMIM:620478
HP:0030402	Abnormal platelet aggregation	26258	BLOC1S6	OMIM:614171
HP:0030402	Abnormal platelet aggregation	2982	GUCY1A1	ORPHA:401945
HP:0030409	Renal transitional cell carcinoma	3265	HRAS	ORPHA:2874
HP:0030406	Primary peritoneal carcinoma	672	BRCA1	ORPHA:145
HP:0030406	Primary peritoneal carcinoma	7157	TP53	ORPHA:145
HP:0030406	Primary peritoneal carcinoma	5892	RAD51D	ORPHA:145
HP:0030406	Primary peritoneal carcinoma	675	BRCA2	ORPHA:145
HP:0030406	Primary peritoneal carcinoma	5728	PTEN	ORPHA:145
HP:0030406	Primary peritoneal carcinoma	10111	RAD50	ORPHA:145
HP:0030406	Primary peritoneal carcinoma	580	BARD1	ORPHA:145
HP:0030406	Primary peritoneal carcinoma	5888	RAD51	ORPHA:145
HP:0030406	Primary peritoneal carcinoma	4683	NBN	ORPHA:145
HP:0030406	Primary peritoneal carcinoma	5889	RAD51C	ORPHA:145
HP:0030406	Primary peritoneal carcinoma	83990	BRIP1	ORPHA:145
HP:0030406	Primary peritoneal carcinoma	4361	MRE11	ORPHA:145
HP:0030406	Primary peritoneal carcinoma	79728	PALB2	ORPHA:145
HP:0030406	Primary peritoneal carcinoma	11200	CHEK2	ORPHA:145
HP:0030405	Pancreatic endocrine tumor	389692	MAFA	OMIM:147630
HP:0030405	Pancreatic endocrine tumor	3767	KCNJ11	ORPHA:79644
HP:0030405	Pancreatic endocrine tumor	2642	GCGR	ORPHA:438274
HP:0030405	Pancreatic endocrine tumor	7428	VHL	ORPHA:892
HP:0030405	Pancreatic endocrine tumor	595	CCND1	ORPHA:892
HP:0030405	Pancreatic endocrine tumor	4221	MEN1	ORPHA:652
HP:0030405	Pancreatic endocrine tumor	1027	CDKN1B	ORPHA:652
HP:0030405	Pancreatic endocrine tumor	1027	CDKN1B	OMIM:610755
HP:0030405	Pancreatic endocrine tumor	1026	CDKN1A	ORPHA:652
HP:0030405	Pancreatic endocrine tumor	1030	CDKN2B	ORPHA:652
HP:0030405	Pancreatic endocrine tumor	1031	CDKN2C	ORPHA:652
HP:0030405	Pancreatic endocrine tumor	3458	IFNG	ORPHA:805
HP:0030405	Pancreatic endocrine tumor	7248	TSC1	ORPHA:805
HP:0030405	Pancreatic endocrine tumor	7249	TSC2	ORPHA:805
HP:0030404	Glucagonoma	4221	MEN1	ORPHA:652
HP:0030404	Glucagonoma	4221	MEN1	OMIM:131100
HP:0030404	Glucagonoma	1027	CDKN1B	ORPHA:652
HP:0030404	Glucagonoma	1026	CDKN1A	ORPHA:652
HP:0030404	Glucagonoma	1030	CDKN2B	ORPHA:652
HP:0030404	Glucagonoma	1031	CDKN2C	ORPHA:652
HP:0030404	Glucagonoma	2642	GCGR	ORPHA:438274
HP:0030413	Squamous cell carcinoma of the tongue	4194	MDM4	OMIM:618849
HP:0030413	Squamous cell carcinoma of the tongue	55135	WRAP53	OMIM:613988
HP:0030410	Sebaceous gland carcinoma	4292	MLH1	OMIM:158320
HP:0030410	Sebaceous gland carcinoma	4436	MSH2	OMIM:158320
HP:0030417	Squamous cell carcinoma of the vulva	81704	DOCK8	ORPHA:217390
HP:0030416	Vulvar neoplasm	1288	COL4A6	ORPHA:1018
HP:0030416	Vulvar neoplasm	1287	COL4A5	ORPHA:1018
HP:0030416	Vulvar neoplasm	81704	DOCK8	ORPHA:217390
HP:0030424	Epididymal cyst	7428	VHL	ORPHA:892
HP:0030424	Epididymal cyst	7428	VHL	OMIM:193300
HP:0030424	Epididymal cyst	595	CCND1	ORPHA:892
HP:0030424	Epididymal cyst	595	CCND1	OMIM:193300
HP:0030424	Epididymal cyst	5290	PIK3CA	ORPHA:314662
HP:0030424	Epididymal cyst	10847	SRCAP	ORPHA:2044
HP:0030424	Epididymal cyst	10847	SRCAP	OMIM:136140
HP:0030424	Epididymal cyst	6928	HNF1B	OMIM:137920
HP:0030423	Splenic cyst	169792	GLIS3	OMIM:610199
HP:0030423	Splenic cyst	90952	ESAM	OMIM:620371
HP:0030423	Splenic cyst	55503	TRPV6	OMIM:618188
HP:0009715	Papillary cystadenoma of the epididymis	2033	EP300	OMIM:180849
HP:0009715	Papillary cystadenoma of the epididymis	1387	CREBBP	OMIM:180849
HP:0009715	Papillary cystadenoma of the epididymis	7428	VHL	ORPHA:892
HP:0009715	Papillary cystadenoma of the epididymis	7428	VHL	OMIM:193300
HP:0009715	Papillary cystadenoma of the epididymis	595	CCND1	ORPHA:892
HP:0009715	Papillary cystadenoma of the epididymis	595	CCND1	OMIM:193300
HP:0009715	Papillary cystadenoma of the epididymis	6928	HNF1B	ORPHA:93111
HP:0030421	Epididymal neoplasm	2033	EP300	OMIM:180849
HP:0030421	Epididymal neoplasm	1387	CREBBP	OMIM:180849
HP:0030421	Epididymal neoplasm	7428	VHL	ORPHA:892
HP:0030421	Epididymal neoplasm	7428	VHL	OMIM:193300
HP:0030421	Epididymal neoplasm	595	CCND1	ORPHA:892
HP:0030421	Epididymal neoplasm	595	CCND1	OMIM:193300
HP:0030421	Epididymal neoplasm	6928	HNF1B	ORPHA:93111
HP:0030428	Cutaneous myxoma	2778	GNAS	ORPHA:562
HP:0030428	Cutaneous myxoma	5573	PRKAR1A	ORPHA:1359
HP:0030428	Cutaneous myxoma	50940	PDE11A	ORPHA:1359
HP:0030427	Ossifying fibroma of the jaw	89970	RSPRY1	ORPHA:457395
HP:0030426	Ossifying fibroma	4763	NF1	ORPHA:363700
HP:0030426	Ossifying fibroma	89970	RSPRY1	ORPHA:457395
HP:0030436	Fibrofolliculoma	56980	PRDM10	OMIM:620459
HP:0030436	Fibrofolliculoma	201163	FLCN	OMIM:135150
HP:0030434	Pilomatrixoma	1499	CTNNB1	OMIM:132600
HP:0030434	Pilomatrixoma	1499	CTNNB1	ORPHA:91414
HP:0030434	Pilomatrixoma	1387	CREBBP	ORPHA:353281
HP:0030434	Pilomatrixoma	1387	CREBBP	ORPHA:353277
HP:0030434	Pilomatrixoma	8085	KMT2D	ORPHA:2322
HP:0030434	Pilomatrixoma	7403	KDM6A	ORPHA:2322
HP:0030434	Pilomatrixoma	2033	EP300	ORPHA:353284
HP:0030434	Pilomatrixoma	324	APC	ORPHA:99818
HP:0030434	Pilomatrixoma	324	APC	ORPHA:247806
HP:0030434	Pilomatrixoma	324	APC	ORPHA:79665
HP:0030434	Pilomatrixoma	9817	KEAP1	ORPHA:276399
HP:0030434	Pilomatrixoma	23405	DICER1	ORPHA:276399
HP:0030434	Pilomatrixoma	8379	MAD1L1	OMIM:620189
HP:0030431	Osteochondroma	2131	EXT1	ORPHA:321
HP:0030431	Osteochondroma	2132	EXT2	ORPHA:321
HP:0030431	Osteochondroma	2737	GLI3	ORPHA:672
HP:0030431	Osteochondroma	1280	COL2A1	OMIM:609162
HP:0030431	Osteochondroma	2261	FGFR3	OMIM:610474
HP:0030431	Osteochondroma	55553	SOX6	OMIM:618971
HP:0030431	Osteochondroma	4773	NFATC2	OMIM:620232
HP:0030431	Osteochondroma	90	ACVR1	ORPHA:337
HP:0030430	Neuroma	4771	NF2	ORPHA:637
HP:0030430	Neuroma	11235	PDCD10	ORPHA:221061
HP:0030430	Neuroma	5290	PIK3CA	ORPHA:221061
HP:0030430	Neuroma	83605	CCM2	ORPHA:221061
HP:0030430	Neuroma	889	KRIT1	ORPHA:221061
HP:0030430	Neuroma	4763	NF1	ORPHA:97685
HP:0030437	Anal canal neoplasm	81704	DOCK8	ORPHA:217390
HP:0030446	Atypical pulmonary carcinoid tumor	546	ATRX	ORPHA:100075
HP:0030446	Atypical pulmonary carcinoid tumor	6392	SDHD	ORPHA:100093
HP:0030445	Pulmonary carcinoid tumor	4000	LMNA	ORPHA:363618
HP:0030445	Pulmonary carcinoid tumor	4221	MEN1	ORPHA:652
HP:0030445	Pulmonary carcinoid tumor	1027	CDKN1B	ORPHA:652
HP:0030445	Pulmonary carcinoid tumor	1027	CDKN1B	ORPHA:276152
HP:0030445	Pulmonary carcinoid tumor	1026	CDKN1A	ORPHA:652
HP:0030445	Pulmonary carcinoid tumor	1030	CDKN2B	ORPHA:652
HP:0030445	Pulmonary carcinoid tumor	1031	CDKN2C	ORPHA:652
HP:0030445	Pulmonary carcinoid tumor	6392	SDHD	ORPHA:100093
HP:0030445	Pulmonary carcinoid tumor	546	ATRX	ORPHA:100075
HP:0030442	Anal margin squamous cell carcinoma	56983	POGLUT1	ORPHA:79145
HP:0030442	Anal margin squamous cell carcinoma	3852	KRT5	ORPHA:79145
HP:0030442	Anal margin squamous cell carcinoma	23509	POFUT1	ORPHA:79145
HP:0030442	Anal margin squamous cell carcinoma	55851	PSENEN	ORPHA:79145
HP:0030440	Anal margin neoplasm	56983	POGLUT1	ORPHA:79145
HP:0030440	Anal margin neoplasm	3852	KRT5	ORPHA:79145
HP:0030440	Anal margin neoplasm	23509	POFUT1	ORPHA:79145
HP:0030440	Anal margin neoplasm	55851	PSENEN	ORPHA:79145
HP:0030448	Soft tissue sarcoma	6654	SOS1	OMIM:135300
HP:0030448	Soft tissue sarcoma	6654	SOS1	ORPHA:2024
HP:0030448	Soft tissue sarcoma	1718	DHCR24	OMIM:602398
HP:0030448	Soft tissue sarcoma	4221	MEN1	ORPHA:652
HP:0030448	Soft tissue sarcoma	1027	CDKN1B	ORPHA:652
HP:0030448	Soft tissue sarcoma	1026	CDKN1A	ORPHA:652
HP:0030448	Soft tissue sarcoma	1030	CDKN2B	ORPHA:652
HP:0030448	Soft tissue sarcoma	1031	CDKN2C	ORPHA:652
HP:0030448	Soft tissue sarcoma	118429	ANTXR2	OMIM:228600
HP:0030448	Soft tissue sarcoma	118429	ANTXR2	ORPHA:2028
HP:0030448	Soft tissue sarcoma	23461	ABCA5	OMIM:135400
HP:0030448	Soft tissue sarcoma	23461	ABCA5	ORPHA:2026
HP:0030448	Soft tissue sarcoma	54757	FAM20A	OMIM:204690
HP:0030448	Soft tissue sarcoma	3756	KCNH1	OMIM:135500
HP:0030448	Soft tissue sarcoma	3756	KCNH1	ORPHA:3473
HP:0030448	Soft tissue sarcoma	63916	ELMO2	ORPHA:3019
HP:0030448	Soft tissue sarcoma	3458	IFNG	OMIM:613254
HP:0030448	Soft tissue sarcoma	7249	TSC2	OMIM:613254
HP:0030448	Soft tissue sarcoma	5978	REST	ORPHA:2024
HP:0030448	Soft tissue sarcoma	5978	REST	OMIM:617626
HP:0030448	Soft tissue sarcoma	7248	TSC1	OMIM:191100
HP:0030448	Soft tissue sarcoma	526	ATP6V1B2	ORPHA:3473
HP:0030448	Soft tissue sarcoma	3782	KCNN3	ORPHA:3473
HP:0030448	Soft tissue sarcoma	56975	FAM20C	ORPHA:1832
HP:0030448	Soft tissue sarcoma	3815	KIT	OMIM:606764
HP:0030448	Soft tissue sarcoma	6711	SPTBN1	OMIM:619475
HP:0030448	Soft tissue sarcoma	161742	SPRED1	OMIM:611431
HP:0030448	Soft tissue sarcoma	161742	SPRED1	ORPHA:137605
HP:0030448	Soft tissue sarcoma	8314	BAP1	ORPHA:2495
HP:0030448	Soft tissue sarcoma	4771	NF2	ORPHA:2495
HP:0030448	Soft tissue sarcoma	4771	NF2	OMIM:101000
HP:0030448	Soft tissue sarcoma	6598	SMARCB1	ORPHA:2495
HP:0030448	Soft tissue sarcoma	84231	TRAF7	ORPHA:2495
HP:0030448	Soft tissue sarcoma	6608	SMO	ORPHA:2495
HP:0030448	Soft tissue sarcoma	7015	TERT	ORPHA:2495
HP:0030448	Soft tissue sarcoma	51684	SUFU	ORPHA:2495
HP:0030448	Soft tissue sarcoma	51684	SUFU	OMIM:620343
HP:0030448	Soft tissue sarcoma	6605	SMARCE1	ORPHA:2495
HP:0030448	Soft tissue sarcoma	4035	LRP1	ORPHA:79100
HP:0030448	Soft tissue sarcoma	23405	DICER1	OMIM:601200
HP:0030448	Soft tissue sarcoma	5727	PTCH1	ORPHA:77301
HP:0030448	Soft tissue sarcoma	4763	NF1	OMIM:162200
HP:0030448	Soft tissue sarcoma	4763	NF1	ORPHA:97685
HP:0030448	Soft tissue sarcoma	9184	BUB3	ORPHA:1052
HP:0030448	Soft tissue sarcoma	699	BUB1	ORPHA:1052
HP:0030448	Soft tissue sarcoma	9702	CEP57	ORPHA:1052
HP:0030448	Soft tissue sarcoma	9319	TRIP13	ORPHA:1052
HP:0030448	Soft tissue sarcoma	701	BUB1B	ORPHA:1052
HP:0030448	Soft tissue sarcoma	4683	NBN	OMIM:251260
HP:0030448	Soft tissue sarcoma	4683	NBN	ORPHA:647
HP:0030448	Soft tissue sarcoma	3265	HRAS	OMIM:218040
HP:0030448	Soft tissue sarcoma	3265	HRAS	ORPHA:2874
HP:0030448	Soft tissue sarcoma	4292	MLH1	OMIM:276300
HP:0030448	Soft tissue sarcoma	1029	CDKN2A	ORPHA:524
HP:0030448	Soft tissue sarcoma	4193	MDM2	ORPHA:524
HP:0030448	Soft tissue sarcoma	11200	CHEK2	ORPHA:524
HP:0030448	Soft tissue sarcoma	581	BAX	OMIM:114500
HP:0030448	Soft tissue sarcoma	25788	RAD54B	OMIM:114500
HP:0030448	Soft tissue sarcoma	5795	PTPRJ	OMIM:114500
HP:0030448	Soft tissue sarcoma	5157	PDGFRL	OMIM:114500
HP:0030448	Soft tissue sarcoma	1630	DCC	OMIM:114500
HP:0030448	Soft tissue sarcoma	10395	DLC1	OMIM:114500
HP:0030448	Soft tissue sarcoma	8313	AXIN2	OMIM:114500
HP:0030448	Soft tissue sarcoma	4163	MCC	OMIM:114500
HP:0030448	Soft tissue sarcoma	2261	FGFR3	OMIM:114500
HP:0030448	Soft tissue sarcoma	201163	FLCN	OMIM:114500
HP:0030448	Soft tissue sarcoma	595	CCND1	OMIM:114500
HP:0030448	Soft tissue sarcoma	7097	TLR2	OMIM:114500
HP:0030448	Soft tissue sarcoma	6714	SRC	OMIM:114500
HP:0030448	Soft tissue sarcoma	2033	EP300	OMIM:114500
HP:0030448	Soft tissue sarcoma	27030	MLH3	OMIM:114500
HP:0030448	Soft tissue sarcoma	5320	PLA2G2A	OMIM:114500
HP:0030448	Soft tissue sarcoma	6790	AURKA	OMIM:114500
HP:0030448	Soft tissue sarcoma	4893	NRAS	OMIM:114500
HP:0030448	Soft tissue sarcoma	5782	PTPN12	OMIM:114500
HP:0030448	Soft tissue sarcoma	2271	FH	OMIM:150800
HP:0030448	Soft tissue sarcoma	2271	FH	ORPHA:523
HP:0030448	Soft tissue sarcoma	5002	SLC22A18	OMIM:268210
HP:0030448	Soft tissue sarcoma	8379	MAD1L1	OMIM:620189
HP:0030448	Soft tissue sarcoma	2308	FOXO1	OMIM:268220
HP:0030448	Soft tissue sarcoma	5077	PAX3	OMIM:268220
HP:0030448	Soft tissue sarcoma	5081	PAX7	OMIM:268220
HP:0030448	Soft tissue sarcoma	9817	KEAP1	ORPHA:276399
HP:0030448	Soft tissue sarcoma	4436	MSH2	OMIM:158320
HP:0030448	Soft tissue sarcoma	4436	MSH2	ORPHA:144
HP:0030448	Soft tissue sarcoma	3845	KRAS	ORPHA:2612
HP:0030448	Soft tissue sarcoma	3845	KRAS	ORPHA:144
HP:0030448	Soft tissue sarcoma	4072	EPCAM	ORPHA:144
HP:0030448	Soft tissue sarcoma	5395	PMS2	ORPHA:144
HP:0030448	Soft tissue sarcoma	7048	TGFBR2	ORPHA:144
HP:0030448	Soft tissue sarcoma	2956	MSH6	ORPHA:144
HP:0030448	Soft tissue sarcoma	5378	PMS1	ORPHA:144
HP:0030448	Soft tissue sarcoma	5333	PLCD1	ORPHA:2387
HP:0030448	Soft tissue sarcoma	3872	KRT17	ORPHA:841
HP:0030448	Soft tissue sarcoma	5159	PDGFRB	OMIM:228550
HP:0030448	Soft tissue sarcoma	5159	PDGFRB	ORPHA:2591
HP:0030448	Soft tissue sarcoma	1499	CTNNB1	ORPHA:873
HP:0030448	Soft tissue sarcoma	324	APC	ORPHA:873
HP:0030448	Soft tissue sarcoma	324	APC	OMIM:175100
HP:0030448	Soft tissue sarcoma	10483	SEC23B	ORPHA:201
HP:0030448	Soft tissue sarcoma	5728	PTEN	ORPHA:201
HP:0030448	Soft tissue sarcoma	6390	SDHB	ORPHA:201
HP:0030448	Soft tissue sarcoma	6392	SDHD	ORPHA:201
HP:0030448	Soft tissue sarcoma	6391	SDHC	ORPHA:201
HP:0030448	Soft tissue sarcoma	207	AKT1	ORPHA:201
HP:0030448	Soft tissue sarcoma	205717	USF3	ORPHA:201
HP:0030448	Soft tissue sarcoma	5290	PIK3CA	ORPHA:201
HP:0030448	Soft tissue sarcoma	100144748	KLLN	ORPHA:201
HP:0030448	Soft tissue sarcoma	2316	FLNA	OMIM:300244
HP:0030448	Soft tissue sarcoma	79577	CDC73	ORPHA:143
HP:0030448	Soft tissue sarcoma	79577	CDC73	ORPHA:99880
HP:0030448	Soft tissue sarcoma	4854	NOTCH3	ORPHA:2591
HP:0030448	Soft tissue sarcoma	1288	COL4A6	ORPHA:1018
HP:0030448	Soft tissue sarcoma	1287	COL4A5	ORPHA:1018
HP:0030448	Soft tissue sarcoma	3572	IL6ST	OMIM:619750
HP:0030448	Soft tissue sarcoma	8643	PTCH2	ORPHA:377
HP:0030448	Soft tissue sarcoma	5618	PRLR	OMIM:615554
HP:0030448	Soft tissue sarcoma	355	FAS	ORPHA:3261
HP:0030448	Soft tissue sarcoma	356	FASLG	ORPHA:3261
HP:0030448	Soft tissue sarcoma	843	CASP10	ORPHA:3261
HP:0030448	Soft tissue sarcoma	5573	PRKAR1A	ORPHA:1359
HP:0030448	Soft tissue sarcoma	50940	PDE11A	ORPHA:1359
HP:0030448	Soft tissue sarcoma	79058	ASPSCR1	OMIM:606243
HP:0030448	Soft tissue sarcoma	6757	SSX2	OMIM:300813
HP:0030448	Soft tissue sarcoma	89970	RSPRY1	ORPHA:457395
HP:0030448	Soft tissue sarcoma	7157	TP53	OMIM:151623
HP:0030448	Soft tissue sarcoma	2303	FOXC2	ORPHA:33001
HP:0030448	Soft tissue sarcoma	1277	COL1A1	ORPHA:31112
HP:0030448	Soft tissue sarcoma	5155	PDGFB	ORPHA:31112
HP:0030448	Soft tissue sarcoma	4507	MTAP	OMIM:112250
HP:0030448	Soft tissue sarcoma	673	BRAF	OMIM:163950
HP:0030448	Soft tissue sarcoma	5604	MAP2K1	OMIM:163950
HP:0030448	Soft tissue sarcoma	5781	PTPN11	OMIM:163950
HP:0030448	Soft tissue sarcoma	2324	FLT4	ORPHA:79452
HP:0030448	Soft tissue sarcoma	9780	PIEZO1	ORPHA:79452
HP:0030448	Soft tissue sarcoma	285	ANGPT2	ORPHA:79452
HP:0030448	Soft tissue sarcoma	57165	GJC2	ORPHA:79452
HP:0030448	Soft tissue sarcoma	2050	EPHB4	ORPHA:90186
HP:0030450	Neoplasm of the autonomic nervous system	8929	PHOX2B	OMIM:613013
HP:0030450	Neoplasm of the autonomic nervous system	8929	PHOX2B	ORPHA:661
HP:0030450	Neoplasm of the autonomic nervous system	8929	PHOX2B	ORPHA:99803
HP:0030450	Neoplasm of the autonomic nervous system	8929	PHOX2B	OMIM:209880
HP:0030450	Neoplasm of the autonomic nervous system	1908	EDN3	ORPHA:661
HP:0030450	Neoplasm of the autonomic nervous system	2668	GDNF	ORPHA:661
HP:0030450	Neoplasm of the autonomic nervous system	627	BDNF	ORPHA:661
HP:0030450	Neoplasm of the autonomic nervous system	10660	LBX1	ORPHA:661
HP:0030450	Neoplasm of the autonomic nervous system	283446	MYO1H	ORPHA:661
HP:0030450	Neoplasm of the autonomic nervous system	5979	RET	OMIM:162300
HP:0030450	Neoplasm of the autonomic nervous system	5979	RET	ORPHA:99803
HP:0030450	Neoplasm of the autonomic nervous system	23095	KIF1B	OMIM:256700
HP:0030450	Neoplasm of the autonomic nervous system	5290	PIK3CA	ORPHA:168984
HP:0030450	Neoplasm of the autonomic nervous system	429	ASCL1	ORPHA:99803
HP:0033701	Cortical sclerosis of the iliac wing	9842	PLEKHM1	OMIM:611497
HP:0033704	Elevated urinary homogentisic acid	3081	HGD	ORPHA:56
HP:0033704	Elevated urinary homogentisic acid	3081	HGD	OMIM:203500
HP:0033707	Perioral hyperkeratosis	64065	PERP	OMIM:619208
HP:0033707	Perioral hyperkeratosis	3868	KRT16	OMIM:613000
HP:0033709	Increased sputum production	5265	SERPINA1	OMIM:613490
HP:0430106	Abnormal brain-evoked potentials	2074	ERCC6	OMIM:133540
HP:0430106	Abnormal brain-evoked potentials	410	ARSA	ORPHA:309271
HP:0430106	Abnormal brain-evoked potentials	410	ARSA	ORPHA:309256
HP:0430106	Abnormal brain-evoked potentials	410	ARSA	ORPHA:309263
HP:0430106	Abnormal brain-evoked potentials	5660	PSAP	ORPHA:309271
HP:0430106	Abnormal brain-evoked potentials	5660	PSAP	ORPHA:309256
HP:0430106	Abnormal brain-evoked potentials	5660	PSAP	ORPHA:206436
HP:0430106	Abnormal brain-evoked potentials	5660	PSAP	ORPHA:309263
HP:0430106	Abnormal brain-evoked potentials	7345	UCHL1	OMIM:615491
HP:0430106	Abnormal brain-evoked potentials	51102	MECR	ORPHA:508093
HP:0430106	Abnormal brain-evoked potentials	57165	GJC2	ORPHA:320401
HP:0430106	Abnormal brain-evoked potentials	23126	POGZ	OMIM:616364
HP:0430106	Abnormal brain-evoked potentials	2395	FXN	OMIM:229300
HP:0430106	Abnormal brain-evoked potentials	1593	CYP27A1	ORPHA:909
HP:0430106	Abnormal brain-evoked potentials	8842	PROM1	ORPHA:827
HP:0430106	Abnormal brain-evoked potentials	5961	PRPH2	ORPHA:827
HP:0430106	Abnormal brain-evoked potentials	6785	ELOVL4	ORPHA:827
HP:0430106	Abnormal brain-evoked potentials	6785	ELOVL4	OMIM:614457
HP:0430106	Abnormal brain-evoked potentials	24	ABCA4	ORPHA:827
HP:0430106	Abnormal brain-evoked potentials	54714	CNGB3	ORPHA:827
HP:0430106	Abnormal brain-evoked potentials	11267	SNF8	OMIM:620784
HP:0430106	Abnormal brain-evoked potentials	11267	SNF8	OMIM:620783
HP:0430106	Abnormal brain-evoked potentials	5428	POLG	OMIM:203700
HP:0430106	Abnormal brain-evoked potentials	79751	SLC25A22	OMIM:609304
HP:0430106	Abnormal brain-evoked potentials	2581	GALC	ORPHA:206436
HP:0430106	Abnormal brain-evoked potentials	2581	GALC	ORPHA:206443
HP:0430106	Abnormal brain-evoked potentials	8398	PLA2G6	ORPHA:35069
HP:0430106	Abnormal brain-evoked potentials	8398	PLA2G6	OMIM:256600
HP:0430106	Abnormal brain-evoked potentials	51	ACOX1	ORPHA:2971
HP:0430106	Abnormal brain-evoked potentials	84277	DNAJC30	ORPHA:104
HP:0430106	Abnormal brain-evoked potentials	4535	MT-ND1	ORPHA:104
HP:0430106	Abnormal brain-evoked potentials	4536	MT-ND2	ORPHA:104
HP:0430106	Abnormal brain-evoked potentials	4538	MT-ND4	ORPHA:104
HP:0430106	Abnormal brain-evoked potentials	4720	NDUFS2	ORPHA:104
HP:0430106	Abnormal brain-evoked potentials	4512	MT-CO1	ORPHA:104
HP:0430106	Abnormal brain-evoked potentials	4514	MT-CO3	ORPHA:104
HP:0430106	Abnormal brain-evoked potentials	4519	MT-CYB	ORPHA:104
HP:0430106	Abnormal brain-evoked potentials	4508	MT-ATP6	ORPHA:104
HP:0430106	Abnormal brain-evoked potentials	4540	MT-ND5	ORPHA:104
HP:0430106	Abnormal brain-evoked potentials	4541	MT-ND6	ORPHA:104
HP:0430106	Abnormal brain-evoked potentials	4539	MT-ND4L	ORPHA:104
HP:0430106	Abnormal brain-evoked potentials	22930	RAB3GAP1	ORPHA:2510
HP:0430106	Abnormal brain-evoked potentials	25782	RAB3GAP2	ORPHA:2510
HP:0430106	Abnormal brain-evoked potentials	22931	RAB18	ORPHA:2510
HP:0430106	Abnormal brain-evoked potentials	128637	TBC1D20	ORPHA:2510
HP:0430106	Abnormal brain-evoked potentials	8086	AAAS	OMIM:231550
HP:0430106	Abnormal brain-evoked potentials	10312	TCIRG1	ORPHA:667
HP:0430106	Abnormal brain-evoked potentials	1186	CLCN7	ORPHA:667
HP:0430106	Abnormal brain-evoked potentials	29887	SNX10	ORPHA:667
HP:0430106	Abnormal brain-evoked potentials	8600	TNFSF11	ORPHA:667
HP:0430106	Abnormal brain-evoked potentials	1678	TIMM8A	ORPHA:52368
HP:0430106	Abnormal brain-evoked potentials	7274	TTPA	ORPHA:96
HP:0430106	Abnormal brain-evoked potentials	10397	NDRG1	OMIM:601455
HP:0430106	Abnormal brain-evoked potentials	56947	MFF	ORPHA:485421
HP:0430106	Abnormal brain-evoked potentials	23065	EMC1	OMIM:616875
HP:0430106	Abnormal brain-evoked potentials	23065	EMC1	ORPHA:480898
HP:0430106	Abnormal brain-evoked potentials	9181	ARHGEF2	OMIM:617523
HP:0430106	Abnormal brain-evoked potentials	7841	MOGS	ORPHA:79330
HP:0430106	Abnormal brain-evoked potentials	7299	TYR	ORPHA:79431
HP:0430106	Abnormal brain-evoked potentials	1161	ERCC8	OMIM:216400
HP:0430106	Abnormal brain-evoked potentials	9927	MFN2	OMIM:601152
HP:0430106	Abnormal brain-evoked potentials	8803	SUCLA2	ORPHA:1933
HP:0430106	Abnormal brain-evoked potentials	3908	LAMA2	ORPHA:258
HP:0430106	Abnormal brain-evoked potentials	4854	NOTCH3	OMIM:125310
HP:0430106	Abnormal brain-evoked potentials	4976	OPA1	ORPHA:1215
HP:0430106	Abnormal brain-evoked potentials	401474	SAMD12	OMIM:601068
HP:0430106	Abnormal brain-evoked potentials	56910	STARD7	OMIM:607876
HP:0430106	Abnormal brain-evoked potentials	10501	SEMA6B	OMIM:618876
HP:0430106	Abnormal brain-evoked potentials	378884	NHLRC1	ORPHA:501
HP:0430106	Abnormal brain-evoked potentials	7957	EPM2A	ORPHA:501
HP:0430106	Abnormal brain-evoked potentials	10299	MARCHF6	OMIM:613608
HP:0430106	Abnormal brain-evoked potentials	55689	YEATS2	OMIM:615127
HP:0430106	Abnormal brain-evoked potentials	9750	RIPOR2	OMIM:616515
HP:0430106	Abnormal brain-evoked potentials	3735	KARS1	ORPHA:3240
HP:0430106	Abnormal brain-evoked potentials	9381	OTOF	OMIM:601071
HP:0430106	Abnormal brain-evoked potentials	6663	SOX10	OMIM:609136
HP:0430106	Abnormal brain-evoked potentials	57731	SPTBN4	OMIM:617519
HP:0430106	Abnormal brain-evoked potentials	2072	ERCC4	ORPHA:90321
HP:0430106	Abnormal brain-evoked potentials	79628	SH3TC2	OMIM:601596
HP:0430106	Abnormal brain-evoked potentials	84668	HYCC1	OMIM:610532
HP:0430106	Abnormal brain-evoked potentials	51501	HIKESHI	OMIM:616881
HP:0430106	Abnormal brain-evoked potentials	10682	EBP	ORPHA:401973
HP:0430106	Abnormal brain-evoked potentials	64802	NMNAT1	OMIM:619260
HP:0430106	Abnormal brain-evoked potentials	1910	EDNRB	OMIM:600501
HP:0430106	Abnormal brain-evoked potentials	81624	DIAPH3	OMIM:609129
HP:0430106	Abnormal brain-evoked potentials	4621	MYH3	OMIM:193700
HP:0430106	Abnormal brain-evoked potentials	4001	LMNB1	ORPHA:99027
HP:0430106	Abnormal brain-evoked potentials	8898	MTMR2	OMIM:601382
HP:0430106	Abnormal brain-evoked potentials	57465	TBC1D24	OMIM:608105
HP:0430106	Abnormal brain-evoked potentials	57465	TBC1D24	ORPHA:163727
HP:0430106	Abnormal brain-evoked potentials	6687	SPG7	OMIM:607259
HP:0430106	Abnormal brain-evoked potentials	5631	PRPS1	ORPHA:1187
HP:0430106	Abnormal brain-evoked potentials	5354	PLP1	ORPHA:280219
HP:0430106	Abnormal brain-evoked potentials	6310	ATXN1	ORPHA:98755
HP:0430106	Abnormal brain-evoked potentials	49855	SCAPER	OMIM:618195
HP:0430106	Abnormal brain-evoked potentials	51109	RDH11	ORPHA:436245
HP:0430106	Abnormal brain-evoked potentials	4724	NDUFS4	OMIM:252010
HP:0430106	Abnormal brain-evoked potentials	1340	COX6B1	OMIM:619051
HP:0430106	Abnormal brain-evoked potentials	478	ATP1A3	OMIM:601338
HP:0430106	Abnormal brain-evoked potentials	9326	ZNHIT3	OMIM:260565
HP:0430106	Abnormal brain-evoked potentials	9526	MPDU1	ORPHA:79323
HP:0430106	Abnormal brain-evoked potentials	28962	OSTM1	OMIM:259720
HP:0430106	Abnormal brain-evoked potentials	55624	POMGNT1	OMIM:253280
HP:0430106	Abnormal brain-evoked potentials	10273	STUB1	ORPHA:412057
HP:0430106	Abnormal brain-evoked potentials	26278	SACS	ORPHA:98
HP:0430106	Abnormal brain-evoked potentials	3708	ITPR1	OMIM:117360
HP:0430106	Abnormal brain-evoked potentials	4747	NEFL	ORPHA:99939
HP:0430106	Abnormal brain-evoked potentials	6253	RTN2	ORPHA:100993
HP:0430106	Abnormal brain-evoked potentials	51271	UBAP1	ORPHA:100993
HP:0430106	Abnormal brain-evoked potentials	126129	CPT1C	ORPHA:444099
HP:0430106	Abnormal brain-evoked potentials	3839	KPNA3	ORPHA:171612
HP:0430106	Abnormal brain-evoked potentials	9897	WASHC5	ORPHA:100989
HP:0430106	Abnormal brain-evoked potentials	9197	SLC33A1	ORPHA:171863
HP:0430106	Abnormal brain-evoked potentials	80208	SPG11	ORPHA:2822
HP:0430106	Abnormal brain-evoked potentials	10059	DNM1L	OMIM:610708
HP:0430106	Abnormal brain-evoked potentials	2055	CLN8	ORPHA:1947
HP:0430106	Abnormal brain-evoked potentials	10283	CWC27	ORPHA:166035
HP:0430106	Abnormal brain-evoked potentials	22880	MORC2	ORPHA:466768
HP:0430106	Abnormal brain-evoked potentials	57679	ALS2	OMIM:205100
HP:0430106	Abnormal brain-evoked potentials	215	ABCD1	ORPHA:139399
HP:0430108	Positive Mycobacterium avium sputum culture	3659	IRF1	OMIM:620668
HP:0430107	Sputum infectious agent	3659	IRF1	OMIM:620668
HP:0033711	Pulmonary interstitial thickening	6439	SFTPB	OMIM:265120
HP:0033711	Pulmonary interstitial thickening	659	BMPR2	OMIM:265450
HP:0033711	Pulmonary interstitial thickening	440275	EIF2AK4	ORPHA:199241
HP:0033711	Pulmonary interstitial thickening	1439	CSF2RB	OMIM:614370
HP:0033711	Pulmonary interstitial thickening	10568	SLC34A2	ORPHA:60025
HP:0033711	Pulmonary interstitial thickening	653509	SFTPA1	OMIM:619611
HP:0033711	Pulmonary interstitial thickening	6440	SFTPC	OMIM:610913
HP:0033712	Repeated implantation failure	80726	IQCN	OMIM:620170
HP:0033712	Repeated implantation failure	678	ZFP36L2	OMIM:620154
HP:0033712	Repeated implantation failure	283677	REC114	OMIM:619176
HP:0033715	Hippocampal sclerosis	6900	CNTN2	OMIM:615400
HP:0033715	Hippocampal sclerosis	51117	COQ4	OMIM:620666
HP:0033715	Hippocampal sclerosis	26834	RNU4-2	OMIM:620851
HP:0033716	EEG with frontal epileptiform discharges	166378	AFG2A	ORPHA:457351
HP:0033716	EEG with frontal epileptiform discharges	23732	FRRS1L	ORPHA:725
HP:0033716	EEG with frontal epileptiform discharges	2903	GRIN2A	ORPHA:725
HP:0033716	EEG with frontal epileptiform discharges	9289	ADGRG1	ORPHA:98889
HP:0033716	EEG with frontal epileptiform discharges	5297	PI4KA	ORPHA:98889
HP:0033716	EEG with frontal epileptiform discharges	27286	SRPX2	ORPHA:98889
HP:0033716	EEG with frontal epileptiform discharges	6709	SPTAN1	OMIM:620540
HP:0033717	EEG with temporal epileptiform discharges	2782	GNB1	OMIM:616973
HP:0033717	EEG with temporal epileptiform discharges	23229	ARHGEF9	ORPHA:163985
HP:0033717	EEG with temporal epileptiform discharges	2903	GRIN2A	ORPHA:98818
HP:0033718	EEG with central epileptiform discharges	7030	TFE3	OMIM:301066
HP:0033718	EEG with central epileptiform discharges	9289	ADGRG1	ORPHA:98889
HP:0033718	EEG with central epileptiform discharges	5297	PI4KA	ORPHA:98889
HP:0033718	EEG with central epileptiform discharges	27286	SRPX2	ORPHA:98889
HP:0033719	EEG with parietal epileptiform discharges	57465	TBC1D24	ORPHA:163727
HP:0033719	EEG with parietal epileptiform discharges	7030	TFE3	OMIM:301066
HP:0033719	EEG with parietal epileptiform discharges	9289	ADGRG1	ORPHA:98889
HP:0033719	EEG with parietal epileptiform discharges	5297	PI4KA	ORPHA:98889
HP:0033719	EEG with parietal epileptiform discharges	27286	SRPX2	ORPHA:98889
HP:0033719	EEG with parietal epileptiform discharges	81603	TRIM8	OMIM:619428
HP:0033720	EEG with occipital epileptiform discharges	7030	TFE3	OMIM:301066
HP:0033720	EEG with occipital epileptiform discharges	5428	POLG	ORPHA:254881
HP:0033720	EEG with occipital epileptiform discharges	81603	TRIM8	OMIM:619428
HP:0033720	EEG with occipital epileptiform discharges	23102	TBC1D2B	OMIM:619323
HP:0033721	EEG with centrotemporal epileptiform discharges	23096	IQSEC2	ORPHA:217377
HP:0033721	EEG with centrotemporal epileptiform discharges	23732	FRRS1L	ORPHA:725
HP:0033721	EEG with centrotemporal epileptiform discharges	2903	GRIN2A	ORPHA:725
HP:0033721	EEG with centrotemporal epileptiform discharges	2903	GRIN2A	ORPHA:1945
HP:0033721	EEG with centrotemporal epileptiform discharges	2903	GRIN2A	OMIM:245570
HP:0033721	EEG with centrotemporal epileptiform discharges	27286	SRPX2	ORPHA:1945
HP:0033721	EEG with centrotemporal epileptiform discharges	2566	GABRG2	ORPHA:1945
HP:0033723	Abnormal cerebral venous sinus morphology	875	CBS	ORPHA:394
HP:0033723	Abnormal cerebral venous sinus morphology	57688	ZSWIM6	OMIM:603671
HP:0033724	Cerebral venous sinus thrombosis	875	CBS	ORPHA:394
HP:0033725	Thin corpus callosum	3476	IGBP1	OMIM:300472
HP:0033725	Thin corpus callosum	3476	IGBP1	ORPHA:52055
HP:0033725	Thin corpus callosum	11113	CIT	OMIM:617090
HP:0033725	Thin corpus callosum	11113	CIT	ORPHA:2512
HP:0033725	Thin corpus callosum	7528	YY1	ORPHA:506358
HP:0033725	Thin corpus callosum	23141	ANKLE2	OMIM:616681
HP:0033725	Thin corpus callosum	23141	ANKLE2	ORPHA:2512
HP:0033725	Thin corpus callosum	23019	CNOT1	OMIM:618500
HP:0033725	Thin corpus callosum	23019	CNOT1	ORPHA:556955
HP:0033725	Thin corpus callosum	1024	CDK8	OMIM:618748
HP:0033725	Thin corpus callosum	23556	PIGN	ORPHA:2059
HP:0033725	Thin corpus callosum	81857	MED25	OMIM:616449
HP:0033725	Thin corpus callosum	81857	MED25	ORPHA:464738
HP:0033725	Thin corpus callosum	5361	PLXNA1	OMIM:619955
HP:0033725	Thin corpus callosum	10992	SF3B2	OMIM:164210
HP:0033725	Thin corpus callosum	9839	ZEB2	OMIM:235730
HP:0033725	Thin corpus callosum	9839	ZEB2	ORPHA:261552
HP:0033725	Thin corpus callosum	9839	ZEB2	ORPHA:261537
HP:0033725	Thin corpus callosum	2731	GLDC	OMIM:605899
HP:0033725	Thin corpus callosum	3190	HNRNPK	ORPHA:453504
HP:0033725	Thin corpus callosum	3190	HNRNPK	ORPHA:352665
HP:0033725	Thin corpus callosum	55112	DYNC2I1	ORPHA:93271
HP:0033725	Thin corpus callosum	57560	IFT80	ORPHA:93271
HP:0033725	Thin corpus callosum	57539	WDR35	ORPHA:93271
HP:0033725	Thin corpus callosum	79659	DYNC2H1	ORPHA:93271
HP:0033725	Thin corpus callosum	79659	DYNC2H1	OMIM:613091
HP:0033725	Thin corpus callosum	89891	DYNC2I2	ORPHA:93271
HP:0033725	Thin corpus callosum	4281	MID1	OMIM:300000
HP:0033725	Thin corpus callosum	4281	MID1	ORPHA:2745
HP:0033725	Thin corpus callosum	51112	TRAPPC12	ORPHA:500144
HP:0033725	Thin corpus callosum	51112	TRAPPC12	OMIM:617669
HP:0033725	Thin corpus callosum	2073	ERCC5	OMIM:616570
HP:0033725	Thin corpus callosum	116931	MED12L	OMIM:618872
HP:0033725	Thin corpus callosum	9578	CDC42BPB	OMIM:619841
HP:0033725	Thin corpus callosum	170302	ARX	OMIM:300004
HP:0033725	Thin corpus callosum	170302	ARX	OMIM:300215
HP:0033725	Thin corpus callosum	170302	ARX	ORPHA:452
HP:0033725	Thin corpus callosum	170302	ARX	ORPHA:2508
HP:0033725	Thin corpus callosum	1630	DCC	OMIM:617542
HP:0033725	Thin corpus callosum	1630	DCC	ORPHA:238722
HP:0033725	Thin corpus callosum	1630	DCC	OMIM:157600
HP:0033725	Thin corpus callosum	6576	SLC25A1	OMIM:618197
HP:0033725	Thin corpus callosum	4867	NPHP1	ORPHA:220497
HP:0033725	Thin corpus callosum	22858	CILK1	OMIM:612651
HP:0033725	Thin corpus callosum	25914	RTTN	OMIM:614833
HP:0033725	Thin corpus callosum	25914	RTTN	ORPHA:468631
HP:0033725	Thin corpus callosum	80055	PGAP1	OMIM:615802
HP:0033725	Thin corpus callosum	80055	PGAP1	ORPHA:401820
HP:0033725	Thin corpus callosum	84197	POMK	OMIM:615249
HP:0033725	Thin corpus callosum	84197	POMK	ORPHA:899
HP:0033725	Thin corpus callosum	84197	POMK	ORPHA:370959
HP:0033725	Thin corpus callosum	26153	KIF26A	OMIM:620156
HP:0033725	Thin corpus callosum	28514	DLL1	ORPHA:280200
HP:0033725	Thin corpus callosum	28514	DLL1	ORPHA:93926
HP:0033725	Thin corpus callosum	28514	DLL1	ORPHA:93924
HP:0033725	Thin corpus callosum	28514	DLL1	ORPHA:93925
HP:0033725	Thin corpus callosum	28514	DLL1	ORPHA:220386
HP:0033725	Thin corpus callosum	2253	FGF8	ORPHA:280200
HP:0033725	Thin corpus callosum	2253	FGF8	ORPHA:93926
HP:0033725	Thin corpus callosum	2253	FGF8	ORPHA:93924
HP:0033725	Thin corpus callosum	2253	FGF8	ORPHA:93925
HP:0033725	Thin corpus callosum	2253	FGF8	ORPHA:220386
HP:0033725	Thin corpus callosum	6496	SIX3	ORPHA:280200
HP:0033725	Thin corpus callosum	6496	SIX3	OMIM:269160
HP:0033725	Thin corpus callosum	6496	SIX3	ORPHA:93926
HP:0033725	Thin corpus callosum	6496	SIX3	ORPHA:93924
HP:0033725	Thin corpus callosum	6496	SIX3	ORPHA:93925
HP:0033725	Thin corpus callosum	6496	SIX3	ORPHA:220386
HP:0033725	Thin corpus callosum	6496	SIX3	OMIM:157170
HP:0033725	Thin corpus callosum	7050	TGIF1	ORPHA:280200
HP:0033725	Thin corpus callosum	7050	TGIF1	ORPHA:93926
HP:0033725	Thin corpus callosum	7050	TGIF1	ORPHA:93924
HP:0033725	Thin corpus callosum	7050	TGIF1	ORPHA:93925
HP:0033725	Thin corpus callosum	7050	TGIF1	ORPHA:220386
HP:0033725	Thin corpus callosum	4838	NODAL	ORPHA:280200
HP:0033725	Thin corpus callosum	4838	NODAL	ORPHA:93926
HP:0033725	Thin corpus callosum	4838	NODAL	ORPHA:93924
HP:0033725	Thin corpus callosum	4838	NODAL	ORPHA:93925
HP:0033725	Thin corpus callosum	4838	NODAL	ORPHA:220386
HP:0033725	Thin corpus callosum	6469	SHH	ORPHA:280200
HP:0033725	Thin corpus callosum	6469	SHH	ORPHA:93926
HP:0033725	Thin corpus callosum	6469	SHH	ORPHA:93924
HP:0033725	Thin corpus callosum	6469	SHH	ORPHA:93925
HP:0033725	Thin corpus callosum	6469	SHH	ORPHA:220386
HP:0033725	Thin corpus callosum	7546	ZIC2	ORPHA:280200
HP:0033725	Thin corpus callosum	7546	ZIC2	ORPHA:93926
HP:0033725	Thin corpus callosum	7546	ZIC2	ORPHA:93924
HP:0033725	Thin corpus callosum	7546	ZIC2	ORPHA:93925
HP:0033725	Thin corpus callosum	7546	ZIC2	ORPHA:220386
HP:0033725	Thin corpus callosum	2619	GAS1	ORPHA:280200
HP:0033725	Thin corpus callosum	2619	GAS1	ORPHA:93926
HP:0033725	Thin corpus callosum	2619	GAS1	ORPHA:93924
HP:0033725	Thin corpus callosum	2619	GAS1	ORPHA:93925
HP:0033725	Thin corpus callosum	2619	GAS1	ORPHA:220386
HP:0033725	Thin corpus callosum	84976	DISP1	ORPHA:280200
HP:0033725	Thin corpus callosum	84976	DISP1	ORPHA:93926
HP:0033725	Thin corpus callosum	84976	DISP1	ORPHA:93924
HP:0033725	Thin corpus callosum	84976	DISP1	ORPHA:93925
HP:0033725	Thin corpus callosum	84976	DISP1	ORPHA:220386
HP:0033725	Thin corpus callosum	8928	FOXH1	ORPHA:280200
HP:0033725	Thin corpus callosum	8928	FOXH1	ORPHA:93926
HP:0033725	Thin corpus callosum	8928	FOXH1	ORPHA:93924
HP:0033725	Thin corpus callosum	8928	FOXH1	ORPHA:93925
HP:0033725	Thin corpus callosum	8928	FOXH1	ORPHA:220386
HP:0033725	Thin corpus callosum	6997	CRIPTO	ORPHA:280200
HP:0033725	Thin corpus callosum	6997	CRIPTO	ORPHA:93926
HP:0033725	Thin corpus callosum	6997	CRIPTO	ORPHA:93924
HP:0033725	Thin corpus callosum	6997	CRIPTO	ORPHA:93925
HP:0033725	Thin corpus callosum	6997	CRIPTO	ORPHA:220386
HP:0033725	Thin corpus callosum	5727	PTCH1	ORPHA:280200
HP:0033725	Thin corpus callosum	5727	PTCH1	ORPHA:93926
HP:0033725	Thin corpus callosum	5727	PTCH1	ORPHA:93924
HP:0033725	Thin corpus callosum	5727	PTCH1	ORPHA:93925
HP:0033725	Thin corpus callosum	5727	PTCH1	OMIM:610828
HP:0033725	Thin corpus callosum	5727	PTCH1	ORPHA:220386
HP:0033725	Thin corpus callosum	50937	CDON	ORPHA:280200
HP:0033725	Thin corpus callosum	50937	CDON	ORPHA:93926
HP:0033725	Thin corpus callosum	50937	CDON	ORPHA:93924
HP:0033725	Thin corpus callosum	50937	CDON	ORPHA:93925
HP:0033725	Thin corpus callosum	50937	CDON	OMIM:614226
HP:0033725	Thin corpus callosum	50937	CDON	ORPHA:220386
HP:0033725	Thin corpus callosum	2263	FGFR2	ORPHA:87
HP:0033725	Thin corpus callosum	2263	FGFR2	OMIM:123790
HP:0033725	Thin corpus callosum	2263	FGFR2	OMIM:101200
HP:0033725	Thin corpus callosum	56992	KIF15	ORPHA:261323
HP:0033725	Thin corpus callosum	51360	MBTPS2	ORPHA:2273
HP:0033725	Thin corpus callosum	284058	KANSL1	ORPHA:363958
HP:0033725	Thin corpus callosum	284058	KANSL1	ORPHA:363965
HP:0033725	Thin corpus callosum	347733	TUBB2B	ORPHA:300573
HP:0033725	Thin corpus callosum	347733	TUBB2B	OMIM:610031
HP:0033725	Thin corpus callosum	1020	CDK5	OMIM:616342
HP:0033725	Thin corpus callosum	83871	RAB34	OMIM:620718
HP:0033725	Thin corpus callosum	5173	PDYN	OMIM:610245
HP:0033725	Thin corpus callosum	55681	SCYL2	OMIM:618766
HP:0033725	Thin corpus callosum	2018	EMX2	OMIM:269160
HP:0033725	Thin corpus callosum	546	ATRX	ORPHA:847
HP:0033725	Thin corpus callosum	7080	NKX2-1	ORPHA:209905
HP:0033725	Thin corpus callosum	6597	SMARCA4	OMIM:614609
HP:0033725	Thin corpus callosum	6597	SMARCA4	ORPHA:1465
HP:0033725	Thin corpus callosum	9401	RECQL4	OMIM:218600
HP:0033725	Thin corpus callosum	4524	MTHFR	ORPHA:563612
HP:0033725	Thin corpus callosum	57216	VANGL2	ORPHA:563612
HP:0033725	Thin corpus callosum	171023	ASXL1	ORPHA:97297
HP:0033725	Thin corpus callosum	171023	ASXL1	OMIM:605039
HP:0033725	Thin corpus callosum	9896	FIG4	ORPHA:3472
HP:0033725	Thin corpus callosum	9896	FIG4	OMIM:216340
HP:0033725	Thin corpus callosum	55697	VAC14	ORPHA:3472
HP:0033725	Thin corpus callosum	10815	CPLX1	ORPHA:280
HP:0033725	Thin corpus callosum	10815	CPLX1	OMIM:194190
HP:0033725	Thin corpus callosum	54872	PIGG	ORPHA:280
HP:0033725	Thin corpus callosum	7469	NELFA	ORPHA:280
HP:0033725	Thin corpus callosum	1487	CTBP1	ORPHA:280
HP:0033725	Thin corpus callosum	1487	CTBP1	OMIM:194190
HP:0033725	Thin corpus callosum	3954	LETM1	ORPHA:280
HP:0033725	Thin corpus callosum	3954	LETM1	OMIM:194190
HP:0033725	Thin corpus callosum	7468	NSD2	ORPHA:280
HP:0033725	Thin corpus callosum	7468	NSD2	OMIM:194190
HP:0033725	Thin corpus callosum	22872	SEC31A	OMIM:618651
HP:0033725	Thin corpus callosum	57498	KIDINS220	OMIM:619501
HP:0033725	Thin corpus callosum	55012	PPP2R3C	OMIM:618419
HP:0033725	Thin corpus callosum	6491	STIL	ORPHA:93926
HP:0033725	Thin corpus callosum	6491	STIL	ORPHA:93924
HP:0033725	Thin corpus callosum	6491	STIL	ORPHA:93925
HP:0033725	Thin corpus callosum	6491	STIL	ORPHA:220386
HP:0033725	Thin corpus callosum	6491	STIL	ORPHA:2512
HP:0033725	Thin corpus callosum	51021	MRPS16	OMIM:610498
HP:0033725	Thin corpus callosum	11193	WBP4	OMIM:620852
HP:0033725	Thin corpus callosum	23007	PLCH1	ORPHA:93925
HP:0033725	Thin corpus callosum	10735	STAG2	ORPHA:93925
HP:0033725	Thin corpus callosum	10735	STAG2	OMIM:301043
HP:0033725	Thin corpus callosum	10735	STAG2	ORPHA:220386
HP:0033725	Thin corpus callosum	79731	NARS2	OMIM:616239
HP:0033725	Thin corpus callosum	6602	SMARCD1	OMIM:618779
HP:0033725	Thin corpus callosum	6602	SMARCD1	ORPHA:1465
HP:0033725	Thin corpus callosum	55623	THUMPD1	OMIM:619989
HP:0033725	Thin corpus callosum	53834	FGFRL1	OMIM:194190
HP:0033725	Thin corpus callosum	26227	PHGDH	OMIM:256520
HP:0033725	Thin corpus callosum	2074	ERCC6	OMIM:214150
HP:0033725	Thin corpus callosum	3192	HNRNPU	ORPHA:238769
HP:0033725	Thin corpus callosum	9653	HS2ST1	OMIM:619194
HP:0033725	Thin corpus callosum	129563	DIS3L2	OMIM:267000
HP:0033725	Thin corpus callosum	1947	EFNB1	OMIM:304110
HP:0033725	Thin corpus callosum	5518	PPP2R1A	OMIM:616362
HP:0033725	Thin corpus callosum	5518	PPP2R1A	ORPHA:457284
HP:0033725	Thin corpus callosum	23512	SUZ12	OMIM:618786
HP:0033725	Thin corpus callosum	6608	SMO	OMIM:601707
HP:0033725	Thin corpus callosum	6608	SMO	ORPHA:1553
HP:0033725	Thin corpus callosum	54539	NDUFB11	OMIM:309801
HP:0033725	Thin corpus callosum	54539	NDUFB11	ORPHA:2556
HP:0033725	Thin corpus callosum	54539	NDUFB11	OMIM:300952
HP:0033725	Thin corpus callosum	1349	COX7B	OMIM:309801
HP:0033725	Thin corpus callosum	1349	COX7B	OMIM:300887
HP:0033725	Thin corpus callosum	1349	COX7B	ORPHA:2556
HP:0033725	Thin corpus callosum	3052	HCCS	OMIM:309801
HP:0033725	Thin corpus callosum	3052	HCCS	ORPHA:2556
HP:0033725	Thin corpus callosum	55773	TBC1D23	OMIM:617695
HP:0033725	Thin corpus callosum	5626	PROP1	ORPHA:226307
HP:0033725	Thin corpus callosum	5626	PROP1	ORPHA:95494
HP:0033725	Thin corpus callosum	89884	LHX4	ORPHA:226307
HP:0033725	Thin corpus callosum	89884	LHX4	ORPHA:95494
HP:0033725	Thin corpus callosum	8022	LHX3	ORPHA:226307
HP:0033725	Thin corpus callosum	5449	POU1F1	ORPHA:226307
HP:0033725	Thin corpus callosum	5449	POU1F1	ORPHA:95494
HP:0033725	Thin corpus callosum	8820	HESX1	ORPHA:226307
HP:0033725	Thin corpus callosum	8820	HESX1	ORPHA:95494
HP:0033725	Thin corpus callosum	8820	HESX1	OMIM:182230
HP:0033725	Thin corpus callosum	8820	HESX1	ORPHA:3157
HP:0033725	Thin corpus callosum	4519	MT-CYB	ORPHA:137675
HP:0033725	Thin corpus callosum	5828	PEX2	OMIM:614866
HP:0033725	Thin corpus callosum	5590	PRKCZ	ORPHA:1606
HP:0033725	Thin corpus callosum	2563	GABRD	ORPHA:1606
HP:0033725	Thin corpus callosum	23013	SPEN	ORPHA:1606
HP:0033725	Thin corpus callosum	23013	SPEN	OMIM:619312
HP:0033725	Thin corpus callosum	8510	MMP23B	ORPHA:1606
HP:0033725	Thin corpus callosum	7798	LUZP1	ORPHA:1606
HP:0033725	Thin corpus callosum	6497	SKI	ORPHA:1606
HP:0033725	Thin corpus callosum	10630	PDPN	ORPHA:1606
HP:0033725	Thin corpus callosum	3339	HSPG2	ORPHA:1606
HP:0033725	Thin corpus callosum	10277	UBE4B	ORPHA:1606
HP:0033725	Thin corpus callosum	8514	KCNAB2	ORPHA:1606
HP:0033725	Thin corpus callosum	63976	PRDM16	ORPHA:1606
HP:0033725	Thin corpus callosum	54897	CASZ1	ORPHA:1606
HP:0033725	Thin corpus callosum	11128	POLR3A	OMIM:264090
HP:0033725	Thin corpus callosum	11128	POLR3A	ORPHA:3455
HP:0033725	Thin corpus callosum	6558	SLC12A2	OMIM:619083
HP:0033725	Thin corpus callosum	10236	HNRNPR	OMIM:620073
HP:0033725	Thin corpus callosum	3170	FOXA2	ORPHA:95494
HP:0033725	Thin corpus callosum	5015	OTX2	ORPHA:95494
HP:0033725	Thin corpus callosum	5015	OTX2	ORPHA:990
HP:0033725	Thin corpus callosum	5015	OTX2	ORPHA:3157
HP:0033725	Thin corpus callosum	83479	DDX59	ORPHA:2919
HP:0033725	Thin corpus callosum	83479	DDX59	OMIM:174300
HP:0033725	Thin corpus callosum	11041	B4GAT1	OMIM:615287
HP:0033725	Thin corpus callosum	11041	B4GAT1	ORPHA:899
HP:0033725	Thin corpus callosum	113179	ADAT3	OMIM:615286
HP:0033725	Thin corpus callosum	113179	ADAT3	ORPHA:363528
HP:0033725	Thin corpus callosum	1654	DDX3X	ORPHA:3338
HP:0033725	Thin corpus callosum	9928	KIF14	OMIM:616258
HP:0033725	Thin corpus callosum	9928	KIF14	OMIM:617914
HP:0033725	Thin corpus callosum	9928	KIF14	ORPHA:2512
HP:0033725	Thin corpus callosum	79633	FAT4	ORPHA:314679
HP:0033725	Thin corpus callosum	8642	DCHS1	ORPHA:314679
HP:0033725	Thin corpus callosum	57492	ARID1B	ORPHA:251056
HP:0033725	Thin corpus callosum	57492	ARID1B	ORPHA:1465
HP:0033725	Thin corpus callosum	57688	ZSWIM6	OMIM:603671
HP:0033725	Thin corpus callosum	57688	ZSWIM6	ORPHA:1827
HP:0033725	Thin corpus callosum	7846	TUBA1A	ORPHA:171680
HP:0033725	Thin corpus callosum	7846	TUBA1A	OMIM:611603
HP:0033725	Thin corpus callosum	2271	FH	OMIM:606812
HP:0033725	Thin corpus callosum	57724	EPG5	OMIM:242840
HP:0033725	Thin corpus callosum	57724	EPG5	ORPHA:1493
HP:0033725	Thin corpus callosum	63895	PIEZO2	OMIM:248700
HP:0033725	Thin corpus callosum	63895	PIEZO2	ORPHA:2461
HP:0033725	Thin corpus callosum	2239	GPC4	ORPHA:373
HP:0033725	Thin corpus callosum	2239	GPC4	OMIM:312870
HP:0033725	Thin corpus callosum	2719	GPC3	ORPHA:373
HP:0033725	Thin corpus callosum	2719	GPC3	OMIM:312870
HP:0033725	Thin corpus callosum	197258	FCSK	OMIM:618324
HP:0033725	Thin corpus callosum	10463	SLC30A9	OMIM:617595
HP:0033725	Thin corpus callosum	8565	YARS1	OMIM:619418
HP:0033725	Thin corpus callosum	2678	GGT1	OMIM:231950
HP:0033725	Thin corpus callosum	64919	BCL11B	OMIM:617237
HP:0033725	Thin corpus callosum	11023	VAX1	OMIM:614402
HP:0033725	Thin corpus callosum	51645	PPIL1	OMIM:619301
HP:0033725	Thin corpus callosum	51362	CDC40	OMIM:619302
HP:0033725	Thin corpus callosum	8621	CDK13	OMIM:617360
HP:0033725	Thin corpus callosum	5881	RAC3	OMIM:618577
HP:0033725	Thin corpus callosum	60529	ALX4	ORPHA:228390
HP:0033725	Thin corpus callosum	55280	CWF19L1	ORPHA:453521
HP:0033725	Thin corpus callosum	3897	L1CAM	ORPHA:2466
HP:0033725	Thin corpus callosum	3897	L1CAM	OMIM:303350
HP:0033725	Thin corpus callosum	3897	L1CAM	OMIM:307000
HP:0033725	Thin corpus callosum	3897	L1CAM	ORPHA:2182
HP:0033725	Thin corpus callosum	9990	SLC12A6	ORPHA:1496
HP:0033725	Thin corpus callosum	9990	SLC12A6	OMIM:218000
HP:0033725	Thin corpus callosum	164	AP1G1	OMIM:619548
HP:0033725	Thin corpus callosum	1801	DPH1	ORPHA:459061
HP:0033725	Thin corpus callosum	1802	DPH2	ORPHA:459061
HP:0033725	Thin corpus callosum	22827	PUF60	ORPHA:508498
HP:0033725	Thin corpus callosum	5888	RAD51	ORPHA:238722
HP:0033725	Thin corpus callosum	5888	RAD51	OMIM:157600
HP:0033725	Thin corpus callosum	10126	DNAL4	ORPHA:238722
HP:0033725	Thin corpus callosum	9423	NTN1	ORPHA:238722
HP:0033725	Thin corpus callosum	9423	NTN1	OMIM:157600
HP:0033725	Thin corpus callosum	4558	MT-TF	ORPHA:550
HP:0033725	Thin corpus callosum	4572	MT-TQ	ORPHA:550
HP:0033725	Thin corpus callosum	4512	MT-CO1	ORPHA:550
HP:0033725	Thin corpus callosum	4513	MT-CO2	ORPHA:550
HP:0033725	Thin corpus callosum	4514	MT-CO3	ORPHA:550
HP:0033725	Thin corpus callosum	4578	MT-TW	ORPHA:550
HP:0033725	Thin corpus callosum	4540	MT-ND5	ORPHA:550
HP:0033725	Thin corpus callosum	4541	MT-ND6	ORPHA:550
HP:0033725	Thin corpus callosum	4535	MT-ND1	ORPHA:550
HP:0033725	Thin corpus callosum	4538	MT-ND4	ORPHA:550
HP:0033725	Thin corpus callosum	4567	MT-TL1	ORPHA:550
HP:0033725	Thin corpus callosum	4574	MT-TS1	ORPHA:550
HP:0033725	Thin corpus callosum	4575	MT-TS2	ORPHA:550
HP:0033725	Thin corpus callosum	4564	MT-TH	ORPHA:550
HP:0033725	Thin corpus callosum	56896	DPYSL5	OMIM:619435
HP:0033725	Thin corpus callosum	2879	GPX4	ORPHA:93317
HP:0033725	Thin corpus callosum	54973	INTS11	OMIM:620428
HP:0033725	Thin corpus callosum	5396	PRRX1	OMIM:202650
HP:0033725	Thin corpus callosum	5396	PRRX1	ORPHA:990
HP:0033725	Thin corpus callosum	51807	TUBA8	ORPHA:250972
HP:0033725	Thin corpus callosum	7545	ZIC1	OMIM:616602
HP:0033725	Thin corpus callosum	7545	ZIC1	OMIM:618736
HP:0033725	Thin corpus callosum	11267	SNF8	OMIM:620784
HP:0033725	Thin corpus callosum	11267	SNF8	OMIM:620783
HP:0033725	Thin corpus callosum	79813	EHMT1	ORPHA:96147
HP:0033725	Thin corpus callosum	84320	ACBD6	OMIM:620785
HP:0033725	Thin corpus callosum	7473	WNT3	ORPHA:3301
HP:0033725	Thin corpus callosum	340419	RSPO2	ORPHA:3301
HP:0033725	Thin corpus callosum	9496	TBX4	ORPHA:3301
HP:0033725	Thin corpus callosum	8050	PDHX	ORPHA:255182
HP:0033725	Thin corpus callosum	55593	OTUD5	OMIM:301056
HP:0033725	Thin corpus callosum	7707	ZNF148	OMIM:617260
HP:0033725	Thin corpus callosum	5649	RELN	ORPHA:89844
HP:0033725	Thin corpus callosum	10300	KATNB1	ORPHA:89844
HP:0033725	Thin corpus callosum	54820	NDE1	ORPHA:89844
HP:0033725	Thin corpus callosum	54820	NDE1	OMIM:605013
HP:0033725	Thin corpus callosum	54820	NDE1	OMIM:614019
HP:0033725	Thin corpus callosum	23030	KDM4B	OMIM:619320
HP:0033725	Thin corpus callosum	5160	PDHA1	OMIM:312170
HP:0033725	Thin corpus callosum	5160	PDHA1	ORPHA:79243
HP:0033725	Thin corpus callosum	3313	HSPA9	OMIM:616854
HP:0033725	Thin corpus callosum	1806	DPYD	OMIM:274270
HP:0033725	Thin corpus callosum	55215	FANCI	OMIM:609053
HP:0033725	Thin corpus callosum	8320	EOMES	ORPHA:171703
HP:0033725	Thin corpus callosum	79133	NDUFAF5	OMIM:618238
HP:0033725	Thin corpus callosum	157922	CAMSAP1	OMIM:620316
HP:0033725	Thin corpus callosum	55997	CFC1	OMIM:605376
HP:0033725	Thin corpus callosum	29954	POMT2	OMIM:236670
HP:0033725	Thin corpus callosum	29954	POMT2	ORPHA:899
HP:0033725	Thin corpus callosum	29954	POMT2	ORPHA:370959
HP:0033725	Thin corpus callosum	29954	POMT2	OMIM:613150
HP:0033725	Thin corpus callosum	79147	FKRP	OMIM:236670
HP:0033725	Thin corpus callosum	79147	FKRP	ORPHA:899
HP:0033725	Thin corpus callosum	79147	FKRP	ORPHA:370959
HP:0033725	Thin corpus callosum	79147	FKRP	OMIM:613153
HP:0033725	Thin corpus callosum	10585	POMT1	OMIM:236670
HP:0033725	Thin corpus callosum	10585	POMT1	ORPHA:899
HP:0033725	Thin corpus callosum	10585	POMT1	ORPHA:370959
HP:0033725	Thin corpus callosum	9215	LARGE1	OMIM:236670
HP:0033725	Thin corpus callosum	9215	LARGE1	ORPHA:899
HP:0033725	Thin corpus callosum	84892	POMGNT2	ORPHA:899
HP:0033725	Thin corpus callosum	148789	B3GALNT2	ORPHA:899
HP:0033725	Thin corpus callosum	1282	COL4A1	ORPHA:899
HP:0033725	Thin corpus callosum	729920	CRPPA	ORPHA:899
HP:0033725	Thin corpus callosum	10329	RXYLT1	ORPHA:899
HP:0033725	Thin corpus callosum	1605	DAG1	ORPHA:899
HP:0033725	Thin corpus callosum	6657	SOX2	ORPHA:77298
HP:0033725	Thin corpus callosum	6657	SOX2	OMIM:206900
HP:0033725	Thin corpus callosum	6657	SOX2	ORPHA:3157
HP:0033725	Thin corpus callosum	4784	NFIX	OMIM:602535
HP:0033725	Thin corpus callosum	63925	ZNF335	OMIM:615095
HP:0033725	Thin corpus callosum	2657	GDF1	OMIM:208530
HP:0033725	Thin corpus callosum	6598	SMARCB1	ORPHA:1465
HP:0033725	Thin corpus callosum	6659	SOX4	ORPHA:1465
HP:0033725	Thin corpus callosum	8289	ARID1A	ORPHA:1465
HP:0033725	Thin corpus callosum	5977	DPF2	ORPHA:1465
HP:0033725	Thin corpus callosum	196528	ARID2	ORPHA:1465
HP:0033725	Thin corpus callosum	6605	SMARCE1	ORPHA:1465
HP:0033725	Thin corpus callosum	6664	SOX11	ORPHA:1465
HP:0033725	Thin corpus callosum	5831	PYCR1	OMIM:612940
HP:0033725	Thin corpus callosum	29920	PYCR2	ORPHA:481152
HP:0033725	Thin corpus callosum	29920	PYCR2	ORPHA:2512
HP:0033725	Thin corpus callosum	1063	CENPF	OMIM:243605
HP:0033725	Thin corpus callosum	9361	LONP1	ORPHA:79243
HP:0033725	Thin corpus callosum	1000	CDH2	OMIM:618929
HP:0033725	Thin corpus callosum	1781	DYNC1I2	OMIM:618492
HP:0033725	Thin corpus callosum	1583	CYP11A1	ORPHA:289548
HP:0033725	Thin corpus callosum	1583	CYP11A1	ORPHA:168558
HP:0033725	Thin corpus callosum	1641	DCX	OMIM:300067
HP:0033725	Thin corpus callosum	7161	TP73	OMIM:619466
HP:0033725	Thin corpus callosum	2009	EML1	OMIM:600348
HP:0033725	Thin corpus callosum	84342	COG8	OMIM:611182
HP:0033725	Thin corpus callosum	5395	PMS2	OMIM:619101
HP:0033725	Thin corpus callosum	4990	SIX6	OMIM:206900
HP:0033725	Thin corpus callosum	2313	FLI1	ORPHA:2308
HP:0033725	Thin corpus callosum	60386	SLC25A19	ORPHA:99742
HP:0033725	Thin corpus callosum	60	ACTB	OMIM:243310
HP:0033725	Thin corpus callosum	64840	PORCN	OMIM:305600
HP:0033725	Thin corpus callosum	9791	PTDSS1	OMIM:151050
HP:0033725	Thin corpus callosum	9791	PTDSS1	ORPHA:2658
HP:0033725	Thin corpus callosum	2290	FOXG1	ORPHA:261144
HP:0033725	Thin corpus callosum	71	ACTG1	OMIM:614583
HP:0033725	Thin corpus callosum	8092	ALX1	ORPHA:306542
HP:0033725	Thin corpus callosum	28962	OSTM1	ORPHA:85179
HP:0033725	Thin corpus callosum	348180	CTU2	OMIM:618142
HP:0033725	Thin corpus callosum	2033	EP300	OMIM:180849
HP:0033725	Thin corpus callosum	1387	CREBBP	OMIM:180849
HP:0033725	Thin corpus callosum	4659	PPP1R12A	OMIM:618820
HP:0033725	Thin corpus callosum	26576	SRPK3	OMIM:301134
HP:0033725	Thin corpus callosum	29925	GMPPB	ORPHA:370959
HP:0033725	Thin corpus callosum	5162	PDHB	ORPHA:255138
HP:0033725	Thin corpus callosum	5162	PDHB	OMIM:614111
HP:0033725	Thin corpus callosum	374879	ZNF699	OMIM:619488
HP:0033725	Thin corpus callosum	55640	FLVCR2	OMIM:225790
HP:0033725	Thin corpus callosum	6299	SALL1	ORPHA:857
HP:0033725	Thin corpus callosum	51339	DACT1	ORPHA:857
HP:0033725	Thin corpus callosum	118924	FRA10AC1	OMIM:620113
HP:0033725	Thin corpus callosum	113246	C12orf57	OMIM:218340
HP:0033725	Thin corpus callosum	1376	CPT2	OMIM:608836
HP:0033725	Thin corpus callosum	1376	CPT2	ORPHA:228308
HP:0033725	Thin corpus callosum	259266	ASPM	OMIM:608716
HP:0033725	Thin corpus callosum	259266	ASPM	ORPHA:2512
HP:0033725	Thin corpus callosum	2177	FANCD2	OMIM:227646
HP:0033725	Thin corpus callosum	84823	LMNB2	OMIM:616540
HP:0033725	Thin corpus callosum	8243	SMC1A	ORPHA:220386
HP:0033725	Thin corpus callosum	8777	MPDZ	OMIM:615219
HP:0033725	Thin corpus callosum	5430	POLR2A	OMIM:618603
HP:0033725	Thin corpus callosum	124454	EARS2	OMIM:614924
HP:0033725	Thin corpus callosum	4292	MLH1	OMIM:276300
HP:0033725	Thin corpus callosum	22995	CEP152	ORPHA:2512
HP:0033725	Thin corpus callosum	284403	WDR62	ORPHA:2512
HP:0033725	Thin corpus callosum	55262	TRAPPC14	ORPHA:2512
HP:0033725	Thin corpus callosum	163786	SASS6	ORPHA:2512
HP:0033725	Thin corpus callosum	84879	MFSD2A	ORPHA:2512
HP:0033725	Thin corpus callosum	4176	MCM7	ORPHA:2512
HP:0033725	Thin corpus callosum	80254	CEP63	ORPHA:2512
HP:0033725	Thin corpus callosum	29081	METTL5	ORPHA:2512
HP:0033725	Thin corpus callosum	79023	NUP37	ORPHA:2512
HP:0033725	Thin corpus callosum	23310	NCAPD3	ORPHA:2512
HP:0033725	Thin corpus callosum	6301	SARS1	ORPHA:2512
HP:0033725	Thin corpus callosum	55755	CDK5RAP2	ORPHA:2512
HP:0033725	Thin corpus callosum	79648	MCPH1	ORPHA:2512
HP:0033725	Thin corpus callosum	7109	TRAPPC10	ORPHA:2512
HP:0033725	Thin corpus callosum	7453	WARS1	ORPHA:2512
HP:0033725	Thin corpus callosum	1911	PHC1	ORPHA:2512
HP:0033725	Thin corpus callosum	1062	CENPE	ORPHA:2512
HP:0033725	Thin corpus callosum	6884	TAF13	ORPHA:2512
HP:0033725	Thin corpus callosum	9662	CEP135	ORPHA:2512
HP:0033725	Thin corpus callosum	57082	KNL1	ORPHA:2512
HP:0033725	Thin corpus callosum	1021	CDK6	ORPHA:2512
HP:0033725	Thin corpus callosum	18	ABAT	OMIM:613163
HP:0033725	Thin corpus callosum	8449	DHX16	OMIM:618733
HP:0033725	Thin corpus callosum	128674	PROKR2	ORPHA:3157
HP:0033725	Thin corpus callosum	6658	SOX3	ORPHA:3157
HP:0033725	Thin corpus callosum	9915	ARNT2	ORPHA:3157
HP:0033725	Thin corpus callosum	58499	ZNF462	OMIM:618619
HP:0033725	Thin corpus callosum	283450	HECTD4	OMIM:620250
HP:0033725	Thin corpus callosum	2615	LRRC32	OMIM:619074
HP:0033725	Thin corpus callosum	10128	LRPPRC	OMIM:220111
HP:0033725	Thin corpus callosum	10785	WDR4	OMIM:618346
HP:0033725	Thin corpus callosum	6938	TCF12	OMIM:615314
HP:0033725	Thin corpus callosum	136647	MPLKIP	OMIM:234050
HP:0033725	Thin corpus callosum	136647	MPLKIP	ORPHA:33364
HP:0033725	Thin corpus callosum	10733	PLK4	OMIM:616171
HP:0033725	Thin corpus callosum	4190	MDH1	OMIM:618959
HP:0033725	Thin corpus callosum	139285	AMER1	OMIM:300373
HP:0033725	Thin corpus callosum	54916	TMEM260	OMIM:617478
HP:0033725	Thin corpus callosum	404672	GTF2H5	ORPHA:33364
HP:0033725	Thin corpus callosum	2068	ERCC2	ORPHA:33364
HP:0033725	Thin corpus callosum	7737	RNF113A	ORPHA:33364
HP:0033725	Thin corpus callosum	6897	TARS1	ORPHA:33364
HP:0033725	Thin corpus callosum	16	AARS1	ORPHA:33364
HP:0033725	Thin corpus callosum	2071	ERCC3	ORPHA:33364
HP:0033725	Thin corpus callosum	2961	GTF2E2	ORPHA:33364
HP:0033725	Thin corpus callosum	64432	MRPS25	OMIM:619025
HP:0033725	Thin corpus callosum	10524	KAT5	OMIM:619103
HP:0033725	Thin corpus callosum	2137	EXTL3	ORPHA:508533
HP:0033725	Thin corpus callosum	29899	GPSM2	OMIM:604213
HP:0033725	Thin corpus callosum	8036	SHOC2	OMIM:607721
HP:0033725	Thin corpus callosum	23394	ADNP	ORPHA:404448
HP:0033725	Thin corpus callosum	10617	STAMBP	OMIM:614261
HP:0033725	Thin corpus callosum	104	ADARB1	OMIM:618862
HP:0033725	Thin corpus callosum	9853	RUSC2	OMIM:617773
HP:0033725	Thin corpus callosum	1763	DNA2	OMIM:620819
HP:0033725	Thin corpus callosum	55823	VPS11	OMIM:616683
HP:0033725	Thin corpus callosum	55823	VPS11	ORPHA:466934
HP:0033725	Thin corpus callosum	2775	GNAO1	OMIM:615473
HP:0033725	Thin corpus callosum	2775	GNAO1	ORPHA:1934
HP:0033725	Thin corpus callosum	2775	GNAO1	OMIM:617493
HP:0033725	Thin corpus callosum	6873	TAF2	OMIM:615599
HP:0033725	Thin corpus callosum	6873	TAF2	ORPHA:397951
HP:0033725	Thin corpus callosum	7360	UGP2	OMIM:618744
HP:0033725	Thin corpus callosum	5927	KDM5A	OMIM:620820
HP:0033725	Thin corpus callosum	84942	WDR73	OMIM:251300
HP:0033725	Thin corpus callosum	80816	ASXL3	OMIM:615485
HP:0033725	Thin corpus callosum	6536	SLC6A9	OMIM:617301
HP:0033725	Thin corpus callosum	5917	RARS1	ORPHA:438114
HP:0033725	Thin corpus callosum	5917	RARS1	OMIM:616140
HP:0033725	Thin corpus callosum	27245	AHDC1	ORPHA:412069
HP:0033725	Thin corpus callosum	27245	AHDC1	OMIM:615829
HP:0033725	Thin corpus callosum	375387	NRROS	OMIM:618875
HP:0033725	Thin corpus callosum	5610	EIF2AK2	OMIM:618877
HP:0033725	Thin corpus callosum	83696	TRAPPC9	OMIM:613192
HP:0033725	Thin corpus callosum	83696	TRAPPC9	ORPHA:352530
HP:0033725	Thin corpus callosum	7343	UBTF	OMIM:617672
HP:0033725	Thin corpus callosum	7343	UBTF	ORPHA:500180
HP:0033725	Thin corpus callosum	6844	VAMP2	OMIM:618760
HP:0033725	Thin corpus callosum	79029	AFG2B	OMIM:619616
HP:0033725	Thin corpus callosum	1183	CLCN4	ORPHA:485350
HP:0033725	Thin corpus callosum	1183	CLCN4	OMIM:300114
HP:0033725	Thin corpus callosum	83480	PUS3	ORPHA:488627
HP:0033725	Thin corpus callosum	6872	TAF1	ORPHA:480907
HP:0033725	Thin corpus callosum	6872	TAF1	OMIM:300966
HP:0033725	Thin corpus callosum	4763	NF1	ORPHA:363700
HP:0033725	Thin corpus callosum	1656	DDX6	OMIM:618653
HP:0033725	Thin corpus callosum	25930	PTPN23	OMIM:618890
HP:0033725	Thin corpus callosum	23327	NEDD4L	OMIM:617201
HP:0033725	Thin corpus callosum	833	CARS1	OMIM:618891
HP:0033725	Thin corpus callosum	2903	GRIN2A	ORPHA:289266
HP:0033725	Thin corpus callosum	2903	GRIN2A	ORPHA:163721
HP:0033725	Thin corpus callosum	57178	ZMIZ1	OMIM:618659
HP:0033725	Thin corpus callosum	8550	MAPKAPK5	OMIM:619869
HP:0033725	Thin corpus callosum	6905	TBCE	OMIM:617207
HP:0033725	Thin corpus callosum	6905	TBCE	OMIM:241410
HP:0033725	Thin corpus callosum	6905	TBCE	ORPHA:496756
HP:0033725	Thin corpus callosum	55361	PI4K2A	OMIM:620732
HP:0033725	Thin corpus callosum	26040	SETBP1	OMIM:269150
HP:0033725	Thin corpus callosum	26040	SETBP1	ORPHA:798
HP:0033725	Thin corpus callosum	1499	CTNNB1	ORPHA:404473
HP:0033725	Thin corpus callosum	1499	CTNNB1	OMIM:615075
HP:0033725	Thin corpus callosum	113612	CYP2U1	OMIM:615030
HP:0033725	Thin corpus callosum	113612	CYP2U1	ORPHA:320411
HP:0033725	Thin corpus callosum	2261	FGFR3	OMIM:616482
HP:0033725	Thin corpus callosum	2261	FGFR3	ORPHA:85165
HP:0033725	Thin corpus callosum	9895	TECPR2	OMIM:615031
HP:0033725	Thin corpus callosum	9895	TECPR2	ORPHA:320385
HP:0033725	Thin corpus callosum	10717	AP4B1	OMIM:614066
HP:0033725	Thin corpus callosum	10717	AP4B1	ORPHA:280763
HP:0033725	Thin corpus callosum	91574	MTRFR	OMIM:615035
HP:0033725	Thin corpus callosum	91574	MTRFR	ORPHA:320375
HP:0033725	Thin corpus callosum	91574	MTRFR	ORPHA:254930
HP:0033725	Thin corpus callosum	23259	DDHD2	OMIM:615033
HP:0033725	Thin corpus callosum	23259	DDHD2	ORPHA:320380
HP:0033725	Thin corpus callosum	4613	MYCN	OMIM:620748
HP:0033725	Thin corpus callosum	5048	PAFAH1B1	ORPHA:217385
HP:0033725	Thin corpus callosum	5048	PAFAH1B1	ORPHA:531
HP:0033725	Thin corpus callosum	5048	PAFAH1B1	ORPHA:95232
HP:0033725	Thin corpus callosum	7531	YWHAE	ORPHA:217385
HP:0033725	Thin corpus callosum	7531	YWHAE	ORPHA:531
HP:0033725	Thin corpus callosum	3098	HK1	OMIM:618547
HP:0033725	Thin corpus callosum	26137	ZBTB20	OMIM:259050
HP:0033725	Thin corpus callosum	9533	POLR1C	OMIM:616494
HP:0033725	Thin corpus callosum	1615	DARS1	OMIM:615281
HP:0033725	Thin corpus callosum	3800	KIF5C	OMIM:615282
HP:0033725	Thin corpus callosum	253959	RALGAPA1	OMIM:618797
HP:0033725	Thin corpus callosum	2232	FDXR	ORPHA:543470
HP:0033725	Thin corpus callosum	51098	IFT52	OMIM:617102
HP:0033725	Thin corpus callosum	4849	CNOT3	OMIM:618672
HP:0033725	Thin corpus callosum	6506	SLC1A2	OMIM:617105
HP:0033725	Thin corpus callosum	57466	SCAF4	OMIM:620511
HP:0033725	Thin corpus callosum	25973	PARS2	OMIM:618437
HP:0033725	Thin corpus callosum	79971	WLS	OMIM:619648
HP:0033725	Thin corpus callosum	2558	GABRA5	OMIM:618559
HP:0033725	Thin corpus callosum	7841	MOGS	ORPHA:79330
HP:0033725	Thin corpus callosum	7841	MOGS	OMIM:606056
HP:0033725	Thin corpus callosum	4208	MEF2C	ORPHA:228384
HP:0033725	Thin corpus callosum	23162	MAPK8IP3	OMIM:618443
HP:0033725	Thin corpus callosum	3798	KIF5A	OMIM:617235
HP:0033725	Thin corpus callosum	51227	PIGP	OMIM:617599
HP:0033725	Thin corpus callosum	51227	PIGP	ORPHA:1934
HP:0033725	Thin corpus callosum	3785	KCNQ2	ORPHA:439218
HP:0033725	Thin corpus callosum	3785	KCNQ2	OMIM:613720
HP:0033725	Thin corpus callosum	374969	SVBP	OMIM:618569
HP:0033725	Thin corpus callosum	51062	ATL1	OMIM:182600
HP:0033725	Thin corpus callosum	10195	ALG3	ORPHA:79321
HP:0033725	Thin corpus callosum	79087	ALG12	ORPHA:79324
HP:0033725	Thin corpus callosum	79053	ALG8	ORPHA:79325
HP:0033725	Thin corpus callosum	8295	TRRAP	OMIM:618454
HP:0033725	Thin corpus callosum	9742	IFT140	OMIM:266920
HP:0033725	Thin corpus callosum	7040	TGFB1	OMIM:618213
HP:0033725	Thin corpus callosum	133686	NADK2	OMIM:616034
HP:0033725	Thin corpus callosum	133686	NADK2	ORPHA:431361
HP:0033725	Thin corpus callosum	27429	HTRA2	OMIM:617248
HP:0033725	Thin corpus callosum	11338	U2AF2	OMIM:620535
HP:0033725	Thin corpus callosum	51013	EXOSC1	OMIM:619304
HP:0033725	Thin corpus callosum	55770	EXOC2	OMIM:619306
HP:0033725	Thin corpus callosum	6792	CDKL5	ORPHA:1934
HP:0033725	Thin corpus callosum	3736	KCNA1	ORPHA:1934
HP:0033725	Thin corpus callosum	9091	PIGQ	ORPHA:1934
HP:0033725	Thin corpus callosum	81603	TRIM8	ORPHA:1934
HP:0033725	Thin corpus callosum	2902	GRIN1	ORPHA:1934
HP:0033725	Thin corpus callosum	2902	GRIN1	ORPHA:208447
HP:0033725	Thin corpus callosum	2902	GRIN1	OMIM:617820
HP:0033725	Thin corpus callosum	2902	GRIN1	OMIM:614254
HP:0033725	Thin corpus callosum	79751	SLC25A22	ORPHA:1934
HP:0033725	Thin corpus callosum	150094	SIK1	ORPHA:1934
HP:0033725	Thin corpus callosum	8573	CASK	ORPHA:1934
HP:0033725	Thin corpus callosum	23312	DMXL2	ORPHA:1934
HP:0033725	Thin corpus callosum	2917	GRM7	ORPHA:1934
HP:0033725	Thin corpus callosum	2917	GRM7	OMIM:618922
HP:0033725	Thin corpus callosum	11284	PNKP	ORPHA:1934
HP:0033725	Thin corpus callosum	11284	PNKP	OMIM:613402
HP:0033725	Thin corpus callosum	6326	SCN2A	ORPHA:1934
HP:0033725	Thin corpus callosum	6324	SCN1B	ORPHA:1934
HP:0033725	Thin corpus callosum	4761	NEUROD2	ORPHA:1934
HP:0033725	Thin corpus callosum	4761	NEUROD2	OMIM:618374
HP:0033725	Thin corpus callosum	9488	PIGB	OMIM:618580
HP:0033725	Thin corpus callosum	3912	LAMB1	OMIM:615191
HP:0033725	Thin corpus callosum	84706	GPT2	OMIM:616281
HP:0033725	Thin corpus callosum	84706	GPT2	ORPHA:477673
HP:0033725	Thin corpus callosum	79876	UBA5	OMIM:617132
HP:0033725	Thin corpus callosum	160418	TMTC3	OMIM:617255
HP:0033725	Thin corpus callosum	8506	CNTNAP1	OMIM:616286
HP:0033725	Thin corpus callosum	8506	CNTNAP1	OMIM:618186
HP:0033725	Thin corpus callosum	2187	FANCB	OMIM:300514
HP:0033725	Thin corpus callosum	10765	KDM5B	OMIM:618109
HP:0033725	Thin corpus callosum	10564	ARFGEF2	OMIM:608097
HP:0033725	Thin corpus callosum	85476	GFM1	OMIM:609060
HP:0033725	Thin corpus callosum	51412	ACTL6B	OMIM:618468
HP:0033725	Thin corpus callosum	51412	ACTL6B	OMIM:618470
HP:0033725	Thin corpus callosum	2671	GFER	ORPHA:330054
HP:0033725	Thin corpus callosum	11160	ERLIN2	ORPHA:209951
HP:0033725	Thin corpus callosum	11160	ERLIN2	OMIM:611225
HP:0033725	Thin corpus callosum	56945	MRPS22	OMIM:611719
HP:0033725	Thin corpus callosum	128869	PIGU	OMIM:618590
HP:0033725	Thin corpus callosum	5631	PRPS1	ORPHA:423479
HP:0033725	Thin corpus callosum	5515	PPP2CA	OMIM:618354
HP:0033725	Thin corpus callosum	55610	VPS50	OMIM:619685
HP:0033725	Thin corpus callosum	4695	NDUFA2	OMIM:618235
HP:0033725	Thin corpus callosum	6651	SON	OMIM:617140
HP:0033725	Thin corpus callosum	6651	SON	ORPHA:500150
HP:0033725	Thin corpus callosum	8312	AXIN1	OMIM:620558
HP:0033725	Thin corpus callosum	5660	PSAP	OMIM:611721
HP:0033725	Thin corpus callosum	26128	KIFBP	ORPHA:66629
HP:0033725	Thin corpus callosum	26128	KIFBP	OMIM:609460
HP:0033725	Thin corpus callosum	9179	AP4M1	OMIM:612936
HP:0033725	Thin corpus callosum	9179	AP4M1	ORPHA:280763
HP:0033725	Thin corpus callosum	6904	TBCD	ORPHA:496641
HP:0033725	Thin corpus callosum	6904	TBCD	OMIM:617193
HP:0033725	Thin corpus callosum	7337	UBE3A	ORPHA:98794
HP:0033725	Thin corpus callosum	4948	OCA2	ORPHA:98794
HP:0033725	Thin corpus callosum	22796	COG2	OMIM:617395
HP:0033725	Thin corpus callosum	22796	COG2	ORPHA:435934
HP:0033725	Thin corpus callosum	2560	GABRB1	OMIM:617153
HP:0033725	Thin corpus callosum	10588	MTHFS	OMIM:618367
HP:0033725	Thin corpus callosum	23221	RHOBTB2	OMIM:618004
HP:0033725	Thin corpus callosum	8120	AP3B2	OMIM:617276
HP:0033725	Thin corpus callosum	23476	BRD4	OMIM:620568
HP:0033725	Thin corpus callosum	7965	AIMP2	OMIM:618006
HP:0033725	Thin corpus callosum	201163	FLCN	OMIM:610883
HP:0033725	Thin corpus callosum	7703	PCGF2	OMIM:618371
HP:0033725	Thin corpus callosum	29968	PSAT1	ORPHA:284417
HP:0033725	Thin corpus callosum	191	AHCY	ORPHA:88618
HP:0033725	Thin corpus callosum	11342	RNF13	OMIM:618379
HP:0033725	Thin corpus callosum	11342	RNF13	ORPHA:544503
HP:0033725	Thin corpus callosum	9758	FRMPD4	OMIM:300983
HP:0033725	Thin corpus callosum	1822	ATN1	OMIM:618494
HP:0033725	Thin corpus callosum	5332	PLCB4	OMIM:620458
HP:0033725	Thin corpus callosum	8883	NAE1	OMIM:620210
HP:0033725	Thin corpus callosum	80185	TTI2	ORPHA:391307
HP:0033725	Thin corpus callosum	50801	KCNK4	OMIM:618381
HP:0033725	Thin corpus callosum	84265	POLR3GL	OMIM:619234
HP:0033725	Thin corpus callosum	2892	GRIA3	ORPHA:364028
HP:0033725	Thin corpus callosum	26005	C2CD3	ORPHA:434179
HP:0033725	Thin corpus callosum	26005	C2CD3	OMIM:615948
HP:0033725	Thin corpus callosum	57514	ARHGAP31	OMIM:100300
HP:0033725	Thin corpus callosum	51091	SEPSECS	OMIM:613811
HP:0033725	Thin corpus callosum	51091	SEPSECS	ORPHA:2524
HP:0033725	Thin corpus callosum	2571	GAD1	OMIM:619124
HP:0033725	Thin corpus callosum	2222	FDFT1	OMIM:618156
HP:0033725	Thin corpus callosum	285590	SH3PXD2B	OMIM:249420
HP:0033725	Thin corpus callosum	90522	YIF1B	OMIM:619125
HP:0033725	Thin corpus callosum	8239	USP9X	OMIM:300968
HP:0033725	Thin corpus callosum	8239	USP9X	ORPHA:480880
HP:0033725	Thin corpus callosum	9326	ZNHIT3	OMIM:260565
HP:0033725	Thin corpus callosum	6472	SHMT2	OMIM:619121
HP:0033725	Thin corpus callosum	29123	ANKRD11	ORPHA:261250
HP:0033725	Thin corpus callosum	8911	CACNA1I	OMIM:620114
HP:0033725	Thin corpus callosum	93587	TRMT10A	ORPHA:391408
HP:0033725	Thin corpus callosum	84919	PPP1R15B	ORPHA:391408
HP:0033725	Thin corpus callosum	84919	PPP1R15B	OMIM:616817
HP:0033725	Thin corpus callosum	3090	HIC1	ORPHA:531
HP:0033725	Thin corpus callosum	6748	SSR4	ORPHA:370927
HP:0033725	Thin corpus callosum	6748	SSR4	OMIM:300934
HP:0033725	Thin corpus callosum	2629	GBA1	ORPHA:2072
HP:0033725	Thin corpus callosum	340533	NEXMIF	ORPHA:85277
HP:0033725	Thin corpus callosum	89970	RSPRY1	ORPHA:457395
HP:0033725	Thin corpus callosum	54187	NANS	OMIM:610442
HP:0033725	Thin corpus callosum	55005	RMND1	OMIM:614922
HP:0033725	Thin corpus callosum	84153	RNASEH2C	OMIM:610329
HP:0033725	Thin corpus callosum	84153	RNASEH2C	ORPHA:51
HP:0033725	Thin corpus callosum	10079	ATP9A	OMIM:620242
HP:0033725	Thin corpus callosum	23299	BICD2	OMIM:618291
HP:0033725	Thin corpus callosum	64802	NMNAT1	OMIM:619260
HP:0033725	Thin corpus callosum	129285	PPP1R21	OMIM:619383
HP:0033725	Thin corpus callosum	114034	TOE1	ORPHA:284339
HP:0033725	Thin corpus callosum	114034	TOE1	OMIM:614969
HP:0033725	Thin corpus callosum	84842	HPDL	OMIM:619026
HP:0033725	Thin corpus callosum	1496	CTNNA2	OMIM:618174
HP:0033725	Thin corpus callosum	27445	PCLO	OMIM:608027
HP:0033725	Thin corpus callosum	3480	IGF1R	OMIM:270450
HP:0033725	Thin corpus callosum	8085	KMT2D	OMIM:147920
HP:0033725	Thin corpus callosum	7403	KDM6A	OMIM:147920
HP:0033725	Thin corpus callosum	10682	EBP	ORPHA:401973
HP:0033725	Thin corpus callosum	6095	RORA	OMIM:618060
HP:0033725	Thin corpus callosum	8450	CUL4B	OMIM:300354
HP:0033725	Thin corpus callosum	9131	AIFM1	OMIM:300232
HP:0033725	Thin corpus callosum	9131	AIFM1	ORPHA:83629
HP:0033725	Thin corpus callosum	6535	SLC6A8	OMIM:300352
HP:0033725	Thin corpus callosum	7355	SLC35A2	ORPHA:356961
HP:0033725	Thin corpus callosum	7355	SLC35A2	OMIM:300896
HP:0033725	Thin corpus callosum	781	CACNA2D1	OMIM:620149
HP:0033725	Thin corpus callosum	8496	PPFIBP1	OMIM:620024
HP:0033725	Thin corpus callosum	132158	GLYCTK	ORPHA:941
HP:0033725	Thin corpus callosum	57176	VARS2	OMIM:615917
HP:0033725	Thin corpus callosum	80222	TARS2	OMIM:615918
HP:0033725	Thin corpus callosum	54209	TREM2	OMIM:618193
HP:0033725	Thin corpus callosum	200205	IBA57	ORPHA:468661
HP:0033725	Thin corpus callosum	200205	IBA57	OMIM:615330
HP:0033725	Thin corpus callosum	89910	UBE3B	OMIM:244450
HP:0033725	Thin corpus callosum	29072	SETD2	OMIM:620157
HP:0033725	Thin corpus callosum	29072	SETD2	OMIM:620155
HP:0033725	Thin corpus callosum	55780	ERMARD	ORPHA:75857
HP:0033725	Thin corpus callosum	10978	CLP1	OMIM:615803
HP:0033725	Thin corpus callosum	271	AMPD2	OMIM:615809
HP:0033725	Thin corpus callosum	271	AMPD2	OMIM:615686
HP:0033725	Thin corpus callosum	25839	COG4	ORPHA:263501
HP:0033725	Thin corpus callosum	25839	COG4	OMIM:613489
HP:0033725	Thin corpus callosum	5119	CHMP1A	OMIM:614961
HP:0033725	Thin corpus callosum	55157	DARS2	ORPHA:137898
HP:0033725	Thin corpus callosum	10000	AKT3	OMIM:615937
HP:0033725	Thin corpus callosum	501	ALDH7A1	ORPHA:3006
HP:0033725	Thin corpus callosum	11212	PLPBP	ORPHA:3006
HP:0033725	Thin corpus callosum	57531	HACE1	ORPHA:464282
HP:0033725	Thin corpus callosum	57531	HACE1	OMIM:616756
HP:0033725	Thin corpus callosum	23400	ATP13A2	ORPHA:513436
HP:0033725	Thin corpus callosum	80856	LNPK	OMIM:618090
HP:0033725	Thin corpus callosum	26278	SACS	ORPHA:98
HP:0033725	Thin corpus callosum	25942	SIN3A	OMIM:613406
HP:0033725	Thin corpus callosum	54496	PRMT7	ORPHA:464288
HP:0033725	Thin corpus callosum	23265	EXOC7	OMIM:619072
HP:0033725	Thin corpus callosum	1798	DPAGT1	ORPHA:86309
HP:0033725	Thin corpus callosum	7025	NR2F1	ORPHA:401777
HP:0033725	Thin corpus callosum	1267	CNP	OMIM:619071
HP:0033725	Thin corpus callosum	149371	EXOC8	OMIM:619076
HP:0033725	Thin corpus callosum	56006	SMG9	OMIM:616920
HP:0033725	Thin corpus callosum	27286	SRPX2	ORPHA:163721
HP:0033725	Thin corpus callosum	285175	UNC80	OMIM:616801
HP:0033725	Thin corpus callosum	285175	UNC80	ORPHA:371364
HP:0033725	Thin corpus callosum	79753	SNIP1	OMIM:614501
HP:0033725	Thin corpus callosum	54499	TMCO1	OMIM:213980
HP:0033725	Thin corpus callosum	54499	TMCO1	ORPHA:1394
HP:0033725	Thin corpus callosum	23503	ZFYVE26	OMIM:270700
HP:0033725	Thin corpus callosum	23503	ZFYVE26	ORPHA:100996
HP:0033725	Thin corpus callosum	58508	KMT2C	ORPHA:261652
HP:0033725	Thin corpus callosum	4094	MAF	ORPHA:1272
HP:0033725	Thin corpus callosum	5591	PRKDC	OMIM:615966
HP:0033725	Thin corpus callosum	51244	CCDC174	OMIM:616816
HP:0033725	Thin corpus callosum	51322	WAC	ORPHA:284169
HP:0033725	Thin corpus callosum	51322	WAC	OMIM:616708
HP:0033725	Thin corpus callosum	4677	NARS1	OMIM:619091
HP:0033725	Thin corpus callosum	55275	VPS53	OMIM:615851
HP:0033725	Thin corpus callosum	200403	VWA3B	OMIM:616948
HP:0033725	Thin corpus callosum	85021	REPS1	OMIM:617916
HP:0033725	Thin corpus callosum	85440	DOCK7	OMIM:615859
HP:0033725	Thin corpus callosum	85440	DOCK7	ORPHA:411986
HP:0033725	Thin corpus callosum	7407	VARS1	OMIM:617802
HP:0033725	Thin corpus callosum	57165	GJC2	OMIM:613206
HP:0033725	Thin corpus callosum	10535	RNASEH2A	ORPHA:51
HP:0033725	Thin corpus callosum	25939	SAMHD1	ORPHA:51
HP:0033725	Thin corpus callosum	79621	RNASEH2B	ORPHA:51
HP:0033725	Thin corpus callosum	103	ADAR	ORPHA:51
HP:0033725	Thin corpus callosum	11277	TREX1	ORPHA:51
HP:0033725	Thin corpus callosum	100147744	RNU7-1	ORPHA:51
HP:0033725	Thin corpus callosum	134353	LSM11	ORPHA:51
HP:0033725	Thin corpus callosum	64135	IFIH1	ORPHA:51
HP:0033725	Thin corpus callosum	5080	PAX6	OMIM:106210
HP:0033725	Thin corpus callosum	7490	WT1	OMIM:106210
HP:0033725	Thin corpus callosum	10075	HUWE1	OMIM:309590
HP:0033725	Thin corpus callosum	91949	COG7	OMIM:608779
HP:0033725	Thin corpus callosum	124997	WDR81	OMIM:610185
HP:0033725	Thin corpus callosum	11020	IFT27	OMIM:615996
HP:0033725	Thin corpus callosum	23028	KDM1A	OMIM:616728
HP:0033725	Thin corpus callosum	23028	KDM1A	ORPHA:477993
HP:0033725	Thin corpus callosum	6328	SCN3A	OMIM:617938
HP:0033725	Thin corpus callosum	5859	QARS1	OMIM:615760
HP:0033725	Thin corpus callosum	80347	COASY	OMIM:615643
HP:0033725	Thin corpus callosum	23291	FBXW11	OMIM:618914
HP:0033725	Thin corpus callosum	7280	TUBB2A	OMIM:615763
HP:0033725	Thin corpus callosum	998	CDC42	OMIM:616737
HP:0033725	Thin corpus callosum	998	CDC42	ORPHA:487796
HP:0033725	Thin corpus callosum	50	ACO2	OMIM:614559
HP:0033725	Thin corpus callosum	10982	MAPRE2	OMIM:616734
HP:0033725	Thin corpus callosum	51218	GLRX5	OMIM:616859
HP:0033725	Thin corpus callosum	5053	PAH	ORPHA:2209
HP:0033725	Thin corpus callosum	4131	MAP1B	OMIM:618918
HP:0033725	Thin corpus callosum	5925	RB1	ORPHA:1587
HP:0033725	Thin corpus callosum	23511	NUP188	OMIM:618804
HP:0033725	Thin corpus callosum	6709	SPTAN1	OMIM:613477
HP:0033725	Thin corpus callosum	1778	DYNC1H1	OMIM:614563
HP:0033725	Thin corpus callosum	2058	EPRS1	OMIM:617951
HP:0033725	Thin corpus callosum	27315	PGAP2	OMIM:614207
HP:0033725	Thin corpus callosum	80746	TSEN2	OMIM:612389
HP:0033725	Thin corpus callosum	80746	TSEN2	ORPHA:2524
HP:0033725	Thin corpus callosum	57511	COG6	OMIM:614576
HP:0033725	Thin corpus callosum	54664	TMEM106B	OMIM:617964
HP:0033725	Thin corpus callosum	2475	MTOR	OMIM:616638
HP:0033725	Thin corpus callosum	9419	CRIPT	OMIM:615789
HP:0033725	Thin corpus callosum	55644	OSGEP	OMIM:617729
HP:0033725	Thin corpus callosum	7874	USP7	ORPHA:500055
HP:0033725	Thin corpus callosum	340075	ARSI	ORPHA:401815
HP:0033725	Thin corpus callosum	6812	STXBP1	OMIM:612164
HP:0033725	Thin corpus callosum	4337	MOCS1	OMIM:252150
HP:0033725	Thin corpus callosum	29957	SLC25A24	OMIM:612289
HP:0033725	Thin corpus callosum	56270	WDR45B	OMIM:617977
HP:0033725	Thin corpus callosum	259232	NALCN	ORPHA:371364
HP:0033725	Thin corpus callosum	122553	TRAPPC6B	OMIM:617862
HP:0033725	Thin corpus callosum	51124	IER3IP1	OMIM:614231
HP:0033725	Thin corpus callosum	283989	TSEN54	ORPHA:2524
HP:0033725	Thin corpus callosum	79042	TSEN34	ORPHA:2524
HP:0033725	Thin corpus callosum	2893	GRIA4	OMIM:617864
HP:0033725	Thin corpus callosum	55704	CCDC88A	OMIM:617507
HP:0033725	Thin corpus callosum	54676	GTPBP2	OMIM:617988
HP:0033725	Thin corpus callosum	5296	PIK3R2	OMIM:603387
HP:0033725	Thin corpus callosum	11154	AP4S1	ORPHA:280763
HP:0033725	Thin corpus callosum	23431	AP4E1	ORPHA:280763
HP:0033725	Thin corpus callosum	4841	NONO	ORPHA:466791
HP:0033725	Thin corpus callosum	4047	LSS	OMIM:618840
HP:0033725	Thin corpus callosum	5879	RAC1	OMIM:617751
HP:0033725	Thin corpus callosum	5879	RAC1	ORPHA:500159
HP:0033725	Thin corpus callosum	5455	POU3F3	OMIM:618604
HP:0033725	Thin corpus callosum	738	VPS51	OMIM:618606
HP:0033725	Thin corpus callosum	5116	PCNT	ORPHA:2637
HP:0033725	Thin corpus callosum	2806	GOT2	OMIM:618721
HP:0033725	Thin corpus callosum	51663	ZFR	ORPHA:401840
HP:0033725	Thin corpus callosum	1468	SLC25A10	OMIM:618972
HP:0033725	Thin corpus callosum	1968	EIF2S3	OMIM:300148
HP:0033725	Thin corpus callosum	5307	PITX1	OMIM:119800
HP:0033725	Thin corpus callosum	51075	TMX2	OMIM:618730
HP:0033725	Thin corpus callosum	8884	SLC5A6	OMIM:618973
HP:0033725	Thin corpus callosum	7305	TYROBP	OMIM:221770
HP:0033725	Thin corpus callosum	55331	ACER3	OMIM:617762
HP:0033725	Thin corpus callosum	7543	ZFX	OMIM:301118
HP:0033725	Thin corpus callosum	10844	TUBGCP2	OMIM:618737
HP:0033725	Thin corpus callosum	4858	NOVA2	OMIM:618859
HP:0033725	Thin corpus callosum	84148	KAT8	OMIM:618974
HP:0033725	Thin corpus callosum	55753	OGDHL	OMIM:619701
HP:0033725	Thin corpus callosum	9851	KIAA0753	ORPHA:475
HP:0033725	Thin corpus callosum	9851	KIAA0753	ORPHA:2754
HP:0033725	Thin corpus callosum	5147	PDE6D	ORPHA:475
HP:0033725	Thin corpus callosum	5147	PDE6D	ORPHA:2754
HP:0033725	Thin corpus callosum	79600	TCTN1	ORPHA:475
HP:0033725	Thin corpus callosum	79600	TCTN1	ORPHA:564
HP:0033725	Thin corpus callosum	79848	CSPP1	ORPHA:475
HP:0033725	Thin corpus callosum	79848	CSPP1	ORPHA:564
HP:0033725	Thin corpus callosum	8481	OFD1	ORPHA:475
HP:0033725	Thin corpus callosum	8481	OFD1	ORPHA:2754
HP:0033725	Thin corpus callosum	51684	SUFU	ORPHA:475
HP:0033725	Thin corpus callosum	153241	CEP120	ORPHA:475
HP:0033725	Thin corpus callosum	65250	CPLANE1	ORPHA:475
HP:0033725	Thin corpus callosum	65250	CPLANE1	ORPHA:2754
HP:0033725	Thin corpus callosum	91147	TMEM67	ORPHA:475
HP:0033725	Thin corpus callosum	91147	TMEM67	ORPHA:564
HP:0033725	Thin corpus callosum	91147	TMEM67	ORPHA:1454
HP:0033725	Thin corpus callosum	200894	ARL13B	ORPHA:475
HP:0033725	Thin corpus callosum	9731	CEP104	ORPHA:475
HP:0033725	Thin corpus callosum	219844	HYLS1	ORPHA:475
HP:0033725	Thin corpus callosum	23247	KATNIP	ORPHA:475
HP:0033725	Thin corpus callosum	219854	TMEM218	ORPHA:475
HP:0033725	Thin corpus callosum	54903	MKS1	ORPHA:475
HP:0033725	Thin corpus callosum	54903	MKS1	ORPHA:564
HP:0033725	Thin corpus callosum	95681	CEP41	ORPHA:475
HP:0033725	Thin corpus callosum	9786	KIAA0586	ORPHA:475
HP:0033725	Thin corpus callosum	56623	INPP5E	ORPHA:475
HP:0033725	Thin corpus callosum	56623	INPP5E	ORPHA:1454
HP:0033725	Thin corpus callosum	26123	TCTN3	ORPHA:475
HP:0033725	Thin corpus callosum	26123	TCTN3	ORPHA:2754
HP:0033725	Thin corpus callosum	26123	TCTN3	ORPHA:564
HP:0033725	Thin corpus callosum	79867	TCTN2	ORPHA:475
HP:0033725	Thin corpus callosum	79867	TCTN2	ORPHA:564
HP:0033725	Thin corpus callosum	80776	B9D2	ORPHA:475
HP:0033725	Thin corpus callosum	80776	B9D2	ORPHA:564
HP:0033725	Thin corpus callosum	10464	PIBF1	ORPHA:475
HP:0033725	Thin corpus callosum	80210	ARMC9	ORPHA:475
HP:0033725	Thin corpus callosum	23116	TOGARAM1	ORPHA:475
HP:0033725	Thin corpus callosum	25776	CBY1	ORPHA:475
HP:0033725	Thin corpus callosum	27077	B9D1	ORPHA:475
HP:0033725	Thin corpus callosum	27077	B9D1	ORPHA:564
HP:0033725	Thin corpus callosum	403	ARL3	ORPHA:475
HP:0033725	Thin corpus callosum	80173	IFT74	ORPHA:475
HP:0033725	Thin corpus callosum	65062	TMEM237	ORPHA:475
HP:0033725	Thin corpus callosum	65062	TMEM237	ORPHA:2318
HP:0033725	Thin corpus callosum	65062	TMEM237	ORPHA:564
HP:0033725	Thin corpus callosum	1718	DHCR24	OMIM:602398
HP:0033725	Thin corpus callosum	3981	LIG4	ORPHA:235
HP:0033725	Thin corpus callosum	54888	NSUN2	ORPHA:235
HP:0033725	Thin corpus callosum	2218	FKTN	ORPHA:272
HP:0033725	Thin corpus callosum	27238	GPKOW	ORPHA:2570
HP:0033725	Thin corpus callosum	6197	RPS6KA3	ORPHA:192
HP:0033725	Thin corpus callosum	3265	HRAS	ORPHA:2612
HP:0033725	Thin corpus callosum	3845	KRAS	ORPHA:2612
HP:0033725	Thin corpus callosum	4893	NRAS	ORPHA:2612
HP:0033725	Thin corpus callosum	64327	LMBR1	ORPHA:2378
HP:0033725	Thin corpus callosum	673	BRAF	OMIM:115150
HP:0033725	Thin corpus callosum	95	ACY1	ORPHA:137754
HP:0033725	Thin corpus callosum	145173	B3GLCT	ORPHA:709
HP:0033725	Thin corpus callosum	55624	POMGNT1	OMIM:253280
HP:0033725	Thin corpus callosum	6925	TCF4	ORPHA:2896
HP:0033725	Thin corpus callosum	64324	NSD1	ORPHA:821
HP:0033725	Thin corpus callosum	10297	APC2	ORPHA:821
HP:0033725	Thin corpus callosum	154881	KCTD7	ORPHA:263516
HP:0033725	Thin corpus callosum	4036	LRP2	OMIM:222448
HP:0033725	Thin corpus callosum	4036	LRP2	ORPHA:2143
HP:0033725	Thin corpus callosum	2737	GLI3	ORPHA:36
HP:0033725	Thin corpus callosum	374654	KIF7	ORPHA:36
HP:0033725	Thin corpus callosum	374654	KIF7	OMIM:200990
HP:0033725	Thin corpus callosum	374654	KIF7	ORPHA:2754
HP:0033725	Thin corpus callosum	51633	OTUD6B	ORPHA:505237
HP:0033725	Thin corpus callosum	4774	NFIA	ORPHA:401986
HP:0033725	Thin corpus callosum	26275	HIBCH	ORPHA:88639
HP:0033725	Thin corpus callosum	54968	TMEM70	ORPHA:1194
HP:0033725	Thin corpus callosum	51715	RAB23	OMIM:201000
HP:0033725	Thin corpus callosum	84162	BLTP1	OMIM:617822
HP:0033725	Thin corpus callosum	2314	FLII	ORPHA:819
HP:0033725	Thin corpus callosum	23096	IQSEC2	ORPHA:819
HP:0033725	Thin corpus callosum	10743	RAI1	ORPHA:819
HP:0033725	Thin corpus callosum	10522	DEAF1	ORPHA:819
HP:0033725	Thin corpus callosum	1717	DHCR7	ORPHA:818
HP:0033725	Thin corpus callosum	10472	ZBTB18	ORPHA:36367
HP:0033725	Thin corpus callosum	51114	ZDHHC9	ORPHA:776
HP:0033725	Thin corpus callosum	65109	UPF3B	ORPHA:776
HP:0033725	Thin corpus callosum	9968	MED12	ORPHA:776
HP:0033725	Thin corpus callosum	9968	MED12	ORPHA:93932
HP:0033725	Thin corpus callosum	5189	PEX1	OMIM:214100
HP:0033725	Thin corpus callosum	55691	FRMD4A	OMIM:616819
HP:0033725	Thin corpus callosum	10479	SLC9A6	ORPHA:85278
HP:0033725	Thin corpus callosum	5290	PIK3CA	ORPHA:140944
HP:0033725	Thin corpus callosum	10225	CD96	ORPHA:1308
HP:0033725	Thin corpus callosum	100151683	RNU4ATAC	ORPHA:1824
HP:0033725	Thin corpus callosum	79583	TMEM231	ORPHA:2318
HP:0033725	Thin corpus callosum	79583	TMEM231	ORPHA:2754
HP:0033725	Thin corpus callosum	79583	TMEM231	ORPHA:564
HP:0033725	Thin corpus callosum	51524	TMEM138	ORPHA:2318
HP:0033725	Thin corpus callosum	23090	ZNF423	ORPHA:2318
HP:0033725	Thin corpus callosum	80184	CEP290	ORPHA:2318
HP:0033725	Thin corpus callosum	80184	CEP290	ORPHA:564
HP:0033725	Thin corpus callosum	51259	TMEM216	ORPHA:2318
HP:0033725	Thin corpus callosum	51259	TMEM216	ORPHA:2754
HP:0033725	Thin corpus callosum	51259	TMEM216	ORPHA:564
HP:0033725	Thin corpus callosum	57545	CC2D2A	ORPHA:2318
HP:0033725	Thin corpus callosum	57545	CC2D2A	ORPHA:564
HP:0033725	Thin corpus callosum	57545	CC2D2A	ORPHA:1454
HP:0033725	Thin corpus callosum	22930	RAB3GAP1	ORPHA:2510
HP:0033725	Thin corpus callosum	25782	RAB3GAP2	ORPHA:2510
HP:0033725	Thin corpus callosum	22931	RAB18	ORPHA:2510
HP:0033725	Thin corpus callosum	128637	TBC1D20	ORPHA:2510
HP:0033725	Thin corpus callosum	10210	TOPORS	ORPHA:2754
HP:0033725	Thin corpus callosum	317662	FAM149B1	ORPHA:2754
HP:0033725	Thin corpus callosum	8260	NAA10	ORPHA:568
HP:0033725	Thin corpus callosum	54880	BCOR	ORPHA:568
HP:0033725	Thin corpus callosum	2260	FGFR1	ORPHA:2117
HP:0033725	Thin corpus callosum	84314	TMEM107	ORPHA:564
HP:0033725	Thin corpus callosum	57096	RPGRIP1	ORPHA:564
HP:0033725	Thin corpus callosum	79770	TXNDC15	ORPHA:564
HP:0033725	Thin corpus callosum	23322	RPGRIP1L	ORPHA:564
HP:0033725	Thin corpus callosum	23322	RPGRIP1L	ORPHA:1454
HP:0033725	Thin corpus callosum	257	ALX3	ORPHA:391474
HP:0033725	Thin corpus callosum	652	BMP4	OMIM:607932
HP:0033725	Thin corpus callosum	9184	BUB3	ORPHA:1052
HP:0033725	Thin corpus callosum	699	BUB1	ORPHA:1052
HP:0033725	Thin corpus callosum	9702	CEP57	ORPHA:1052
HP:0033725	Thin corpus callosum	9319	TRIP13	ORPHA:1052
HP:0033725	Thin corpus callosum	701	BUB1B	ORPHA:1052
HP:0033725	Thin corpus callosum	5277	PIGA	OMIM:300868
HP:0033725	Thin corpus callosum	4001	LMNB1	ORPHA:99027
HP:0033725	Thin corpus callosum	29980	DONSON	OMIM:251230
HP:0033725	Thin corpus callosum	10059	DNM1L	ORPHA:98673
HP:0033725	Thin corpus callosum	4976	OPA1	ORPHA:98673
HP:0033725	Thin corpus callosum	4702	NDUFA8	OMIM:619272
HP:0033725	Thin corpus callosum	1436	CSF1R	OMIM:221820
HP:0033725	Thin corpus callosum	4099	MAG	OMIM:616680
HP:0033725	Thin corpus callosum	84340	GFM2	ORPHA:565624
HP:0033725	Thin corpus callosum	10134	BCAP31	ORPHA:369939
HP:0033725	Thin corpus callosum	5832	ALDH18A1	OMIM:616586
HP:0033725	Thin corpus callosum	5832	ALDH18A1	ORPHA:447753
HP:0033725	Thin corpus callosum	5832	ALDH18A1	OMIM:601162
HP:0033725	Thin corpus callosum	5832	ALDH18A1	ORPHA:447760
HP:0033725	Thin corpus callosum	4125	MAN2B1	OMIM:248500
HP:0033725	Thin corpus callosum	777	CACNA1E	OMIM:618285
HP:0033725	Thin corpus callosum	64207	IRF2BPL	OMIM:618088
HP:0033725	Thin corpus callosum	51728	POLR3K	OMIM:619310
HP:0033725	Thin corpus callosum	27247	NFU1	OMIM:620938
HP:0033725	Thin corpus callosum	10273	STUB1	ORPHA:412057
HP:0033725	Thin corpus callosum	9255	AIMP1	OMIM:260600
HP:0033725	Thin corpus callosum	51692	CPSF3	OMIM:619876
HP:0033725	Thin corpus callosum	3295	HSD17B4	OMIM:261515
HP:0033725	Thin corpus callosum	4191	MDH2	OMIM:617339
HP:0033725	Thin corpus callosum	27072	VPS41	OMIM:619389
HP:0033725	Thin corpus callosum	91875	TTC5	OMIM:619244
HP:0033725	Thin corpus callosum	23065	EMC1	OMIM:616875
HP:0033725	Thin corpus callosum	23065	EMC1	ORPHA:480898
HP:0033725	Thin corpus callosum	51761	ATP8A2	OMIM:615268
HP:0033725	Thin corpus callosum	9409	PEX16	OMIM:614877
HP:0033725	Thin corpus callosum	57704	GBA2	ORPHA:320391
HP:0033725	Thin corpus callosum	8890	EIF2B4	OMIM:620314
HP:0033725	Thin corpus callosum	79944	L2HGDH	OMIM:236792
HP:0033725	Thin corpus callosum	27183	VPS4A	OMIM:619273
HP:0033725	Thin corpus callosum	55703	POLR3B	OMIM:614381
HP:0033725	Thin corpus callosum	26235	FBXL4	OMIM:615471
HP:0033725	Thin corpus callosum	9759	HDAC4	OMIM:619797
HP:0033725	Thin corpus callosum	343450	KCNT2	OMIM:617771
HP:0033725	Thin corpus callosum	2495	FTH1	OMIM:620669
HP:0033725	Thin corpus callosum	2972	BRF1	OMIM:616202
HP:0033725	Thin corpus callosum	83548	COG3	OMIM:620546
HP:0033725	Thin corpus callosum	6091	ROBO1	OMIM:620305
HP:0033725	Thin corpus callosum	4897	NRCAM	OMIM:619833
HP:0033725	Thin corpus callosum	2653	GCSH	OMIM:620423
HP:0033725	Thin corpus callosum	347734	SLC35B2	OMIM:620269
HP:0033725	Thin corpus callosum	3008	H1-4	OMIM:617537
HP:0033725	Thin corpus callosum	55733	HHAT	OMIM:600092
HP:0033725	Thin corpus callosum	1119	CHKA	OMIM:620023
HP:0033725	Thin corpus callosum	9690	UBE3C	OMIM:620270
HP:0033725	Thin corpus callosum	1729	DIAPH1	ORPHA:477814
HP:0033725	Thin corpus callosum	3020	H3-3A	OMIM:619720
HP:0033725	Thin corpus callosum	55182	RNF220	OMIM:619688
HP:0033725	Thin corpus callosum	116461	TSEN15	OMIM:617026
HP:0033725	Thin corpus callosum	8867	SYNJ1	OMIM:617389
HP:0033725	Thin corpus callosum	51741	WWOX	OMIM:616211
HP:0033725	Thin corpus callosum	9442	MED27	OMIM:619286
HP:0033725	Thin corpus callosum	1855	DVL1	OMIM:616331
HP:0033725	Thin corpus callosum	473	RERE	OMIM:616975
HP:0033725	Thin corpus callosum	477	ATP1A2	OMIM:619605
HP:0033725	Thin corpus callosum	478	ATP1A3	OMIM:619606
HP:0033725	Thin corpus callosum	166378	AFG2A	OMIM:616577
HP:0033725	Thin corpus callosum	318	NUDT2	OMIM:619844
HP:0033725	Thin corpus callosum	3097	HIVEP2	OMIM:616977
HP:0033725	Thin corpus callosum	10381	TUBB3	OMIM:614039
HP:0033725	Thin corpus callosum	84520	GON7	OMIM:619603
HP:0033725	Thin corpus callosum	57582	KCNT1	OMIM:614959
HP:0033725	Thin corpus callosum	25885	POLR1A	OMIM:620675
HP:0033725	Thin corpus callosum	56246	MRAP	OMIM:607398
HP:0033725	Thin corpus callosum	79158	GNPTAB	OMIM:252500
HP:0033725	Thin corpus callosum	23499	MACF1	ORPHA:572013
HP:0033725	Thin corpus callosum	387119	CEP85L	ORPHA:572013
HP:0033725	Thin corpus callosum	161725	OTUD7A	OMIM:620790
HP:0033725	Thin corpus callosum	51324	SPG21	OMIM:248900
HP:0033725	Thin corpus callosum	6595	SMARCA2	OMIM:619293
HP:0033725	Thin corpus callosum	5934	RBL2	OMIM:619690
HP:0033725	Thin corpus callosum	23250	ATP11A	OMIM:619851
HP:0033725	Thin corpus callosum	203068	TUBB	OMIM:615771
HP:0033725	Thin corpus callosum	9698	PUM1	OMIM:620719
HP:0033725	Thin corpus callosum	6601	SMARCC2	OMIM:618362
HP:0033725	Thin corpus callosum	92255	LMBRD2	OMIM:619694
HP:0033725	Thin corpus callosum	7283	TUBG1	OMIM:615412
HP:0033725	Thin corpus callosum	23522	KAT6B	OMIM:606170
HP:0033725	Thin corpus callosum	11232	POLG2	OMIM:618528
HP:0033725	Thin corpus callosum	3796	KIF2A	OMIM:615411
HP:0033725	Thin corpus callosum	11080	DNAJB4	OMIM:620326
HP:0033725	Thin corpus callosum	93627	TBCK	OMIM:616900
HP:0033725	Thin corpus callosum	7920	ABHD16A	OMIM:619735
HP:0033725	Thin corpus callosum	819	CAMLG	OMIM:620201
HP:0033725	Thin corpus callosum	51608	GET4	OMIM:620200
HP:0033725	Thin corpus callosum	80208	SPG11	OMIM:602099
HP:0033725	Thin corpus callosum	54806	AHI1	OMIM:608629
HP:0033725	Thin corpus callosum	2898	GRIK2	OMIM:619580
HP:0033725	Thin corpus callosum	84504	NKX6-2	OMIM:617560
HP:0033725	Thin corpus callosum	26175	LYSET	OMIM:619345
HP:0033725	Thin corpus callosum	283987	HID1	OMIM:619983
HP:0033725	Thin corpus callosum	5442	POLRMT	OMIM:619743
HP:0033725	Thin corpus callosum	127833	SYT2	OMIM:619461
HP:0033725	Thin corpus callosum	2720	GLB1	OMIM:253010
HP:0033725	Thin corpus callosum	4338	MOCS2	OMIM:252160
HP:0033725	Thin corpus callosum	9907	AP5Z1	OMIM:613647
HP:0033725	Thin corpus callosum	1974	EIF4A2	OMIM:620455
HP:0033725	Thin corpus callosum	26834	RNU4-2	OMIM:620851
HP:0033725	Thin corpus callosum	79152	FA2H	OMIM:612319
HP:0033725	Thin corpus callosum	79736	TEFM	OMIM:620451
HP:0033725	Thin corpus callosum	7074	TIAM1	OMIM:619908
HP:0033725	Thin corpus callosum	57003	CCDC47	OMIM:618268
HP:0033725	Thin corpus callosum	1182	CLCN3	OMIM:619512
HP:0033725	Thin corpus callosum	1182	CLCN3	OMIM:619517
HP:0033725	Thin corpus callosum	7862	BRPF1	OMIM:617333
HP:0033725	Thin corpus callosum	23126	POGZ	OMIM:616364
HP:0033725	Thin corpus callosum	8558	CDK10	OMIM:617694
HP:0033725	Thin corpus callosum	1213	CLTC	OMIM:617854
HP:0033725	Thin corpus callosum	1859	DYRK1A	OMIM:614104
HP:0033725	Thin corpus callosum	9681	DEPDC5	OMIM:620504
HP:0033725	Thin corpus callosum	57282	SLC4A10	OMIM:620746
HP:0033725	Thin corpus callosum	23040	MYT1L	OMIM:616521
HP:0033725	Thin corpus callosum	3839	KPNA3	OMIM:620106
HP:0033725	Thin corpus callosum	80232	WDR26	OMIM:617616
HP:0033725	Thin corpus callosum	11340	EXOSC8	ORPHA:2254
HP:0033725	Thin corpus callosum	5393	EXOSC9	ORPHA:2254
HP:0033725	Thin corpus callosum	23287	AGTPBP1	ORPHA:2254
HP:0033725	Thin corpus callosum	51010	EXOSC3	ORPHA:2254
HP:0033725	Thin corpus callosum	7443	VRK1	ORPHA:2254
HP:0033725	Thin corpus callosum	91137	SLC25A46	ORPHA:2254
HP:0033725	Thin corpus callosum	116115	ZNF526	OMIM:619877
HP:0033725	Thin corpus callosum	4329	ALDH6A1	OMIM:614105
HP:0033725	Thin corpus callosum	90624	LYRM7	OMIM:615838
HP:0033725	Thin corpus callosum	93210	PGAP3	OMIM:615716
HP:0033725	Thin corpus callosum	83475	DOHH	OMIM:620066
HP:0033725	Thin corpus callosum	2736	GLI2	OMIM:610829
HP:0033725	Thin corpus callosum	11198	SUPT16H	OMIM:619480
HP:0033725	Thin corpus callosum	5605	MAP2K2	OMIM:615280
HP:0033725	Thin corpus callosum	54828	BCAS3	OMIM:619641
HP:0033725	Thin corpus callosum	374354	NHLRC2	OMIM:618278
HP:0033725	Thin corpus callosum	9276	COPB2	OMIM:619884
HP:0033725	Thin corpus callosum	2316	FLNA	OMIM:300049
HP:0033725	Thin corpus callosum	23031	MAST3	OMIM:620115
HP:0033725	Thin corpus callosum	6509	SLC1A4	OMIM:616657
HP:0033725	Thin corpus callosum	9562	MINPP1	OMIM:619527
HP:0033725	Thin corpus callosum	1759	DNM1	OMIM:620352
HP:0033725	Thin corpus callosum	10430	TMEM147	OMIM:620075
HP:0033725	Thin corpus callosum	5354	PLP1	OMIM:312080
HP:0033725	Thin corpus callosum	7143	TNR	OMIM:619653
HP:0033725	Thin corpus callosum	4123	MAN2C1	OMIM:619775
HP:0033725	Thin corpus callosum	85365	ALG2	OMIM:607906
HP:0033725	Thin corpus callosum	440	ASNS	OMIM:615574
HP:0033725	Thin corpus callosum	4781	NFIB	OMIM:618286
HP:0033725	Thin corpus callosum	84631	SLITRK2	OMIM:301107
HP:0033725	Thin corpus callosum	111	ADCY5	OMIM:619651
HP:0033725	Thin corpus callosum	26047	CNTNAP2	OMIM:610042
HP:0033725	Thin corpus callosum	9487	PIGL	OMIM:280000
HP:0033725	Thin corpus callosum	23219	FBXO28	OMIM:619777
HP:0033725	Thin corpus callosum	1107	CHD3	OMIM:618205
HP:0033725	Thin corpus callosum	9439	MED23	OMIM:614249
HP:0033725	Thin corpus callosum	2801	GOLGA2	OMIM:620240
HP:0033725	Thin corpus callosum	10159	ATP6AP2	OMIM:300423
HP:0033725	Thin corpus callosum	3980	LIG3	OMIM:619780
HP:0033725	Thin corpus callosum	1892	ECHS1	OMIM:616277
HP:0033725	Thin corpus callosum	22978	NT5C2	OMIM:613162
HP:0033725	Thin corpus callosum	51117	COQ4	OMIM:616276
HP:0033725	Thin corpus callosum	79587	CARS2	OMIM:616672
HP:0033725	Thin corpus callosum	2752	GLUL	OMIM:620806
HP:0033725	Thin corpus callosum	523	ATP6V1A	OMIM:617403
HP:0033725	Thin corpus callosum	221927	BRAT1	OMIM:614498
HP:0033725	Thin corpus callosum	58497	PRUNE1	ORPHA:544469
HP:0033725	Thin corpus callosum	9373	PLAA	OMIM:617527
HP:0033725	Thin corpus callosum	10664	CTCF	OMIM:615502
HP:0033725	Thin corpus callosum	5908	RAP1B	OMIM:620654
HP:0033725	Thin corpus callosum	267	AMFR	OMIM:620379
HP:0033725	Thin corpus callosum	3708	ITPR1	OMIM:206700
HP:0033725	Thin corpus callosum	9230	RAB11B	OMIM:617807
HP:0033725	Thin corpus callosum	140679	SLC32A1	OMIM:620774
HP:0033725	Thin corpus callosum	9900	SV2A	OMIM:620772
HP:0033725	Thin corpus callosum	5297	PI4KA	OMIM:619708
HP:0033725	Thin corpus callosum	90952	ESAM	OMIM:620371
HP:0033725	Thin corpus callosum	10533	ATG7	OMIM:619422
HP:0033726	Lupus nephritis	2212	FCGR2A	OMIM:152700
HP:0033726	Lupus nephritis	2213	FCGR2B	OMIM:152700
HP:0033726	Lupus nephritis	2213	FCGR2B	ORPHA:536
HP:0033726	Lupus nephritis	26191	PTPN22	OMIM:152700
HP:0033726	Lupus nephritis	26191	PTPN22	ORPHA:536
HP:0033726	Lupus nephritis	11277	TREX1	OMIM:152700
HP:0033726	Lupus nephritis	11277	TREX1	ORPHA:536
HP:0033726	Lupus nephritis	1493	CTLA4	OMIM:152700
HP:0033726	Lupus nephritis	1493	CTLA4	ORPHA:536
HP:0033726	Lupus nephritis	1773	DNASE1	OMIM:152700
HP:0033726	Lupus nephritis	1773	DNASE1	ORPHA:536
HP:0033726	Lupus nephritis	1776	DNASE1L3	OMIM:614420
HP:0033726	Lupus nephritis	2215	FCGR3B	ORPHA:536
HP:0033726	Lupus nephritis	6775	STAT4	ORPHA:536
HP:0033726	Lupus nephritis	3684	ITGAM	ORPHA:536
HP:0033726	Lupus nephritis	3586	IL10	ORPHA:536
HP:0033726	Lupus nephritis	221895	JAZF1	ORPHA:536
HP:0033726	Lupus nephritis	7292	TNFSF4	ORPHA:536
HP:0033726	Lupus nephritis	640	BLK	ORPHA:536
HP:0033726	Lupus nephritis	720	C4A	ORPHA:536
HP:0033726	Lupus nephritis	55024	BANK1	ORPHA:536
HP:0033726	Lupus nephritis	3500	IGHG1	ORPHA:536
HP:0033726	Lupus nephritis	3654	IRAK1	ORPHA:536
HP:0033726	Lupus nephritis	1380	CR2	ORPHA:536
HP:0033726	Lupus nephritis	5133	PDCD1	ORPHA:536
HP:0033726	Lupus nephritis	2113	ETS1	ORPHA:536
HP:0033726	Lupus nephritis	10318	TNIP1	ORPHA:536
HP:0033726	Lupus nephritis	7332	UBE2L3	ORPHA:536
HP:0033726	Lupus nephritis	79932	KIAA0319L	ORPHA:536
HP:0033726	Lupus nephritis	4204	MECP2	ORPHA:536
HP:0033726	Lupus nephritis	3663	IRF5	ORPHA:536
HP:0033726	Lupus nephritis	3123	HLA-DRB1	ORPHA:536
HP:0033726	Lupus nephritis	721	C4B	ORPHA:536
HP:0033726	Lupus nephritis	51284	TLR7	ORPHA:536
HP:0033726	Lupus nephritis	6696	SPP1	ORPHA:536
HP:0033726	Lupus nephritis	54899	PXK	ORPHA:536
HP:0033726	Lupus nephritis	7128	TNFAIP3	ORPHA:536
HP:0430126	Abnormal circulating plasminogen activator inhibitor 1 activity	5054	SERPINE1	ORPHA:465
HP:0033733	Low-grade vesicoureteral reflux	55898	UNC45A	OMIM:619377
HP:0033734	High-grade vesicoureteral reflux	64321	SOX17	OMIM:613674
HP:0033734	High-grade vesicoureteral reflux	7750	ZMYM2	OMIM:619522
HP:0033736	Grade II vesicoureteral reflux	55898	UNC45A	OMIM:619377
HP:0033737	Grade III vesicoureteral reflux	64321	SOX17	OMIM:613674
HP:0033737	Grade III vesicoureteral reflux	7750	ZMYM2	OMIM:619522
HP:0012900	Myotonia of the face	6329	SCN4A	ORPHA:684
HP:0012900	Myotonia of the face	6329	SCN4A	ORPHA:99734
HP:0012901	Myotonia of the jaw	6329	SCN4A	ORPHA:684
HP:0012902	Myotonia of the lower limb	6329	SCN4A	ORPHA:99734
HP:0012903	Myotonia of the upper limb	6329	SCN4A	ORPHA:684
HP:0012903	Myotonia of the upper limb	6329	SCN4A	ORPHA:99734
HP:0012904	Cold-sensitive myotonia	6329	SCN4A	ORPHA:684
HP:0012904	Cold-sensitive myotonia	6329	SCN4A	ORPHA:99734
HP:0012905	Euryblepharon	1748	DLX4	OMIM:616788
HP:0012905	Euryblepharon	1857	DVL3	ORPHA:3107
HP:0012905	Euryblepharon	7474	WNT5A	ORPHA:3107
HP:0012905	Euryblepharon	1855	DVL1	ORPHA:3107
HP:0012905	Euryblepharon	2535	FZD2	ORPHA:3107
HP:0012905	Euryblepharon	999	CDH1	OMIM:119580
HP:0012905	Euryblepharon	999	CDH1	ORPHA:1997
HP:0012905	Euryblepharon	1500	CTNND1	OMIM:617681
HP:0012905	Euryblepharon	1500	CTNND1	ORPHA:1997
HP:0012905	Euryblepharon	71	ACTG1	ORPHA:2995
HP:0012905	Euryblepharon	60	ACTB	ORPHA:2995
HP:0007601	Midline facial capillary hemangioma	2737	GLI3	ORPHA:672
HP:0007601	Midline facial capillary hemangioma	2737	GLI3	OMIM:146510
HP:0007601	Midline facial capillary hemangioma	10225	CD96	ORPHA:1308
HP:0007603	Freckles in sun-exposed areas	5429	POLH	OMIM:278750
HP:0007603	Freckles in sun-exposed areas	5429	POLH	ORPHA:90342
HP:0007603	Freckles in sun-exposed areas	4157	MC1R	OMIM:203200
HP:0007603	Freckles in sun-exposed areas	4948	OCA2	OMIM:203200
HP:0007603	Freckles in sun-exposed areas	3257	HPS1	OMIM:203300
HP:0007607	Hypohidrotic ectodermal dysplasia	128178	EDARADD	OMIM:614940
HP:0007607	Hypohidrotic ectodermal dysplasia	128178	EDARADD	OMIM:224900
HP:0007607	Hypohidrotic ectodermal dysplasia	10913	EDAR	OMIM:224900
HP:0007607	Hypohidrotic ectodermal dysplasia	1896	EDA	OMIM:305100
HP:0007609	Hypoproteinemic edema	5651	TMPRSS15	OMIM:226200
HP:0033741	Grade IV vesicoureteral reflux	64321	SOX17	OMIM:613674
HP:0033743	Macular agenesis	5080	PAX6	OMIM:106210
HP:0033743	Macular agenesis	7490	WT1	OMIM:106210
HP:0033747	Abnormal exteroceptive sensation	65125	WNK1	OMIM:201300
HP:0033747	Abnormal exteroceptive sensation	54463	RETREG1	OMIM:201300
HP:0033747	Abnormal exteroceptive sensation	26191	PTPN22	ORPHA:397
HP:0033747	Abnormal exteroceptive sensation	3106	HLA-B	ORPHA:397
HP:0033747	Abnormal exteroceptive sensation	3106	HLA-B	ORPHA:117
HP:0033747	Abnormal exteroceptive sensation	3123	HLA-DRB1	ORPHA:397
HP:0033747	Abnormal exteroceptive sensation	3123	HLA-DRB1	OMIM:126200
HP:0033747	Abnormal exteroceptive sensation	8974	P4HA2	ORPHA:397
HP:0033747	Abnormal exteroceptive sensation	4352	MPL	ORPHA:71493
HP:0033747	Abnormal exteroceptive sensation	4352	MPL	ORPHA:3318
HP:0033747	Abnormal exteroceptive sensation	7066	THPO	ORPHA:71493
HP:0033747	Abnormal exteroceptive sensation	3717	JAK2	ORPHA:71493
HP:0033747	Abnormal exteroceptive sensation	3717	JAK2	ORPHA:729
HP:0033747	Abnormal exteroceptive sensation	3717	JAK2	ORPHA:3318
HP:0033747	Abnormal exteroceptive sensation	6399	TRAPPC2	ORPHA:93284
HP:0033747	Abnormal exteroceptive sensation	3094	HINT1	ORPHA:324442
HP:0033747	Abnormal exteroceptive sensation	80207	OPA3	ORPHA:67036
HP:0033747	Abnormal exteroceptive sensation	8029	CUBN	OMIM:261100
HP:0033747	Abnormal exteroceptive sensation	2767	GNA11	ORPHA:428
HP:0033747	Abnormal exteroceptive sensation	2767	GNA11	OMIM:615361
HP:0033747	Abnormal exteroceptive sensation	846	CASR	ORPHA:428
HP:0033747	Abnormal exteroceptive sensation	846	CASR	OMIM:601198
HP:0033747	Abnormal exteroceptive sensation	2778	GNAS	ORPHA:94089
HP:0033747	Abnormal exteroceptive sensation	2778	GNAS	ORPHA:562
HP:0033747	Abnormal exteroceptive sensation	2778	GNAS	ORPHA:79443
HP:0033747	Abnormal exteroceptive sensation	2778	GNAS	ORPHA:79444
HP:0033747	Abnormal exteroceptive sensation	8675	STX16	ORPHA:94089
HP:0033747	Abnormal exteroceptive sensation	773	CACNA1A	OMIM:108500
HP:0033747	Abnormal exteroceptive sensation	773	CACNA1A	ORPHA:569
HP:0033747	Abnormal exteroceptive sensation	4072	EPCAM	ORPHA:144
HP:0033747	Abnormal exteroceptive sensation	4292	MLH1	ORPHA:144
HP:0033747	Abnormal exteroceptive sensation	5395	PMS2	ORPHA:144
HP:0033747	Abnormal exteroceptive sensation	7048	TGFBR2	ORPHA:144
HP:0033747	Abnormal exteroceptive sensation	3845	KRAS	ORPHA:144
HP:0033747	Abnormal exteroceptive sensation	5290	PIK3CA	ORPHA:144
HP:0033747	Abnormal exteroceptive sensation	5290	PIK3CA	ORPHA:221061
HP:0033747	Abnormal exteroceptive sensation	2956	MSH6	ORPHA:144
HP:0033747	Abnormal exteroceptive sensation	5378	PMS1	ORPHA:144
HP:0033747	Abnormal exteroceptive sensation	4436	MSH2	ORPHA:144
HP:0033747	Abnormal exteroceptive sensation	11235	PDCD10	ORPHA:221061
HP:0033747	Abnormal exteroceptive sensation	83605	CCM2	ORPHA:221061
HP:0033747	Abnormal exteroceptive sensation	889	KRIT1	ORPHA:221061
HP:0033747	Abnormal exteroceptive sensation	7084	TK2	ORPHA:254886
HP:0033747	Abnormal exteroceptive sensation	5428	POLG	ORPHA:254886
HP:0033747	Abnormal exteroceptive sensation	5428	POLG	ORPHA:298
HP:0033747	Abnormal exteroceptive sensation	6335	SCN9A	OMIM:243000
HP:0033747	Abnormal exteroceptive sensation	64218	SEMA4A	ORPHA:440437
HP:0033747	Abnormal exteroceptive sensation	472	ATM	ORPHA:440437
HP:0033747	Abnormal exteroceptive sensation	5426	POLE	ORPHA:440437
HP:0033747	Abnormal exteroceptive sensation	675	BRCA2	ORPHA:440437
HP:0033747	Abnormal exteroceptive sensation	657	BMPR1A	ORPHA:440437
HP:0033747	Abnormal exteroceptive sensation	6224	RPS20	ORPHA:440437
HP:0033747	Abnormal exteroceptive sensation	4595	MUTYH	ORPHA:440437
HP:0033747	Abnormal exteroceptive sensation	5424	POLD1	ORPHA:440437
HP:0033747	Abnormal exteroceptive sensation	11200	CHEK2	ORPHA:440437
HP:0033747	Abnormal exteroceptive sensation	10560	SLC19A2	ORPHA:49827
HP:0033747	Abnormal exteroceptive sensation	710	SERPING1	ORPHA:100050
HP:0033747	Abnormal exteroceptive sensation	7132	TNFRSF1A	ORPHA:32960
HP:0033747	Abnormal exteroceptive sensation	1890	TYMP	ORPHA:298
HP:0033747	Abnormal exteroceptive sensation	3980	LIG3	ORPHA:298
HP:0033747	Abnormal exteroceptive sensation	50484	RRM2B	ORPHA:298
HP:0033747	Abnormal exteroceptive sensation	351	APP	ORPHA:324703
HP:0033747	Abnormal exteroceptive sensation	351	APP	OMIM:605714
HP:0033747	Abnormal exteroceptive sensation	9630	GNA14	ORPHA:1063
HP:0033747	Abnormal exteroceptive sensation	22954	TRIM32	OMIM:254110
HP:0033747	Abnormal exteroceptive sensation	64856	VWA1	OMIM:619216
HP:0033747	Abnormal exteroceptive sensation	9927	MFN2	ORPHA:2398
HP:0033747	Abnormal exteroceptive sensation	9927	MFN2	ORPHA:99947
HP:0033747	Abnormal exteroceptive sensation	6513	SLC2A1	OMIM:601042
HP:0033747	Abnormal exteroceptive sensation	6513	SLC2A1	ORPHA:98811
HP:0033747	Abnormal exteroceptive sensation	6513	SLC2A1	ORPHA:53583
HP:0033747	Abnormal exteroceptive sensation	83550	GPR101	ORPHA:963
HP:0033747	Abnormal exteroceptive sensation	9049	AIP	ORPHA:963
HP:0033747	Abnormal exteroceptive sensation	3852	KRT5	ORPHA:79400
HP:0033747	Abnormal exteroceptive sensation	3861	KRT14	ORPHA:79400
HP:0033747	Abnormal exteroceptive sensation	112476	PRRT2	ORPHA:569
HP:0033747	Abnormal exteroceptive sensation	112476	PRRT2	ORPHA:98811
HP:0033747	Abnormal exteroceptive sensation	6323	SCN1A	ORPHA:569
HP:0033747	Abnormal exteroceptive sensation	477	ATP1A2	ORPHA:569
HP:0033747	Abnormal exteroceptive sensation	8131	NPRL3	ORPHA:98820
HP:0033747	Abnormal exteroceptive sensation	10641	NPRL2	ORPHA:98820
HP:0033747	Abnormal exteroceptive sensation	9681	DEPDC5	ORPHA:98820
HP:0033747	Abnormal exteroceptive sensation	7389	UROD	ORPHA:95159
HP:0033747	Abnormal exteroceptive sensation	2632	GBE1	OMIM:263570
HP:0033747	Abnormal exteroceptive sensation	4524	MTHFR	OMIM:236250
HP:0033747	Abnormal exteroceptive sensation	6557	SLC12A1	OMIM:601678
HP:0033747	Abnormal exteroceptive sensation	6329	SCN4A	ORPHA:682
HP:0033747	Abnormal exteroceptive sensation	3758	KCNJ1	OMIM:241200
HP:0033747	Abnormal exteroceptive sensation	4771	NF2	ORPHA:93921
HP:0033747	Abnormal exteroceptive sensation	6598	SMARCB1	ORPHA:93921
HP:0033747	Abnormal exteroceptive sensation	51004	COQ6	ORPHA:93921
HP:0033747	Abnormal exteroceptive sensation	8216	LZTR1	ORPHA:93921
HP:0033747	Abnormal exteroceptive sensation	4747	NEFL	ORPHA:101085
HP:0033747	Abnormal exteroceptive sensation	5376	PMP22	ORPHA:101081
HP:0033747	Abnormal exteroceptive sensation	5376	PMP22	ORPHA:640
HP:0033747	Abnormal exteroceptive sensation	5621	PRNP	ORPHA:356
HP:0033747	Abnormal exteroceptive sensation	595	CCND1	ORPHA:29073
HP:0033747	Abnormal exteroceptive sensation	9150	CTDP1	ORPHA:48431
HP:0033747	Abnormal exteroceptive sensation	7415	VCP	ORPHA:435387
HP:0033747	Abnormal exteroceptive sensation	4221	MEN1	ORPHA:97279
HP:0033747	Abnormal exteroceptive sensation	7528	YY1	ORPHA:97279
HP:0033747	Abnormal exteroceptive sensation	4669	NAGLU	OMIM:616491
HP:0033747	Abnormal exteroceptive sensation	11160	ERLIN2	OMIM:620512
HP:0033747	Abnormal exteroceptive sensation	3145	HMBS	OMIM:176000
HP:0033747	Abnormal exteroceptive sensation	9516	LITAF	OMIM:601098
HP:0033747	Abnormal exteroceptive sensation	51062	ATL1	OMIM:613708
HP:0033747	Abnormal exteroceptive sensation	2717	GLA	OMIM:301500
HP:0033747	Abnormal exteroceptive sensation	2694	CBLIF	OMIM:261000
HP:0033747	Abnormal exteroceptive sensation	3977	LIFR	ORPHA:3206
HP:0033747	Abnormal exteroceptive sensation	210	ALAD	OMIM:612740
HP:0033747	Abnormal exteroceptive sensation	81846	SBF2	ORPHA:99956
HP:0033747	Abnormal exteroceptive sensation	27286	SRPX2	ORPHA:1945
HP:0033747	Abnormal exteroceptive sensation	2903	GRIN2A	ORPHA:1945
HP:0033747	Abnormal exteroceptive sensation	2566	GABRG2	ORPHA:1945
HP:0033747	Abnormal exteroceptive sensation	57410	SCYL1	ORPHA:466794
HP:0033747	Abnormal exteroceptive sensation	57410	SCYL1	OMIM:616719
HP:0033747	Abnormal exteroceptive sensation	3798	KIF5A	ORPHA:100991
HP:0033747	Abnormal exteroceptive sensation	84842	HPDL	OMIM:619027
HP:0033747	Abnormal exteroceptive sensation	10019	SH2B3	ORPHA:3318
HP:0033747	Abnormal exteroceptive sensation	811	CALR	ORPHA:3318
HP:0033747	Abnormal exteroceptive sensation	7157	TP53	ORPHA:3318
HP:0033747	Abnormal exteroceptive sensation	54790	TET2	ORPHA:3318
HP:0033747	Abnormal exteroceptive sensation	10801	SEPTIN9	ORPHA:2901
HP:0033747	Abnormal exteroceptive sensation	6559	SLC12A3	OMIM:263800
HP:0033747	Abnormal exteroceptive sensation	6559	SLC12A3	ORPHA:358
HP:0033747	Abnormal exteroceptive sensation	7390	UROS	ORPHA:79277
HP:0033747	Abnormal exteroceptive sensation	2623	GATA1	ORPHA:79277
HP:0033747	Abnormal exteroceptive sensation	1188	CLCNKB	ORPHA:358
HP:0033747	Abnormal exteroceptive sensation	6310	ATXN1	OMIM:164400
HP:0033747	Abnormal exteroceptive sensation	4668	NAGA	ORPHA:79279
HP:0033747	Abnormal exteroceptive sensation	3119	HLA-DQB1	OMIM:126200
HP:0033747	Abnormal exteroceptive sensation	149233	IL23R	ORPHA:117
HP:0033747	Abnormal exteroceptive sensation	6775	STAT4	ORPHA:117
HP:0033747	Abnormal exteroceptive sensation	3586	IL10	ORPHA:117
HP:0033747	Abnormal exteroceptive sensation	4210	MEFV	ORPHA:117
HP:0033747	Abnormal exteroceptive sensation	1230	CCR1	ORPHA:117
HP:0033747	Abnormal exteroceptive sensation	355	FAS	ORPHA:117
HP:0033747	Abnormal exteroceptive sensation	3592	IL12A	ORPHA:117
HP:0033747	Abnormal exteroceptive sensation	101928376	IL12A-AS1	ORPHA:117
HP:0033747	Abnormal exteroceptive sensation	7099	TLR4	ORPHA:117
HP:0033747	Abnormal exteroceptive sensation	3459	IFNGR1	ORPHA:117
HP:0033747	Abnormal exteroceptive sensation	720	C4A	ORPHA:117
HP:0033747	Abnormal exteroceptive sensation	337867	UBAC2	ORPHA:117
HP:0033747	Abnormal exteroceptive sensation	51752	ERAP1	ORPHA:117
HP:0033747	Abnormal exteroceptive sensation	8302	KLRC4	ORPHA:117
HP:0033747	Abnormal exteroceptive sensation	7879	RAB7A	OMIM:600882
HP:0033747	Abnormal exteroceptive sensation	51816	ADA2	OMIM:182410
HP:0033747	Abnormal exteroceptive sensation	10397	NDRG1	OMIM:601455
HP:0033747	Abnormal exteroceptive sensation	87178	PNPT1	ORPHA:101111
HP:0033747	Abnormal exteroceptive sensation	55958	KLHL9	ORPHA:399081
HP:0033747	Abnormal exteroceptive sensation	4358	MPV17	OMIM:618400
HP:0033747	Abnormal exteroceptive sensation	4358	MPV17	OMIM:256810
HP:0033747	Abnormal exteroceptive sensation	91574	MTRFR	OMIM:615035
HP:0033747	Abnormal exteroceptive sensation	50717	DCAF8	OMIM:610100
HP:0033747	Abnormal exteroceptive sensation	3035	HARS1	ORPHA:488333
HP:0033747	Abnormal exteroceptive sensation	50846	DHH	OMIM:607080
HP:0033747	Abnormal exteroceptive sensation	23064	SETX	OMIM:606002
HP:0033747	Abnormal exteroceptive sensation	26580	BSCL2	OMIM:270685
HP:0033747	Abnormal exteroceptive sensation	9759	HDAC4	OMIM:600430
HP:0033747	Abnormal exteroceptive sensation	253738	EBF3	OMIM:617330
HP:0033747	Abnormal exteroceptive sensation	55768	NGLY1	OMIM:615273
HP:0033747	Abnormal exteroceptive sensation	8242	KDM5C	OMIM:300534
HP:0033747	Abnormal exteroceptive sensation	2892	GRIA3	ORPHA:364028
HP:0033747	Abnormal exteroceptive sensation	55699	IARS2	OMIM:616007
HP:0033747	Abnormal exteroceptive sensation	7204	TRIO	OMIM:618825
HP:0033747	Abnormal exteroceptive sensation	7204	TRIO	OMIM:617061
HP:0033747	Abnormal exteroceptive sensation	10059	DNM1L	OMIM:614388
HP:0033747	Abnormal exteroceptive sensation	781	CACNA2D1	OMIM:620149
HP:0033747	Abnormal exteroceptive sensation	80036	TRPM3	OMIM:620224
HP:0033747	Abnormal exteroceptive sensation	55775	TDP1	ORPHA:94124
HP:0033747	Abnormal exteroceptive sensation	219854	TMEM218	OMIM:619562
HP:0033747	Abnormal exteroceptive sensation	10073	SNUPN	OMIM:620793
HP:0033747	Abnormal exteroceptive sensation	64864	RFX7	OMIM:620330
HP:0033747	Abnormal exteroceptive sensation	9131	AIFM1	ORPHA:101078
HP:0033747	Abnormal exteroceptive sensation	8518	ELP1	ORPHA:1764
HP:0033747	Abnormal exteroceptive sensation	22948	CCT5	ORPHA:139578
HP:0033747	Abnormal exteroceptive sensation	5165	PDK3	OMIM:300905
HP:0033747	Abnormal exteroceptive sensation	85358	SHANK3	OMIM:606232
HP:0033747	Abnormal exteroceptive sensation	2705	GJB1	ORPHA:101075
HP:0033747	Abnormal exteroceptive sensation	100033413	SNORD116-1	OMIM:176270
HP:0033747	Abnormal exteroceptive sensation	8924	HERC2	OMIM:176270
HP:0033747	Abnormal exteroceptive sensation	23742	NPAP1	OMIM:176270
HP:0033747	Abnormal exteroceptive sensation	338433	SNORD115-1	OMIM:176270
HP:0033747	Abnormal exteroceptive sensation	7681	MKRN3	OMIM:176270
HP:0033747	Abnormal exteroceptive sensation	145624	PWAR1	OMIM:176270
HP:0033747	Abnormal exteroceptive sensation	3653	IPW	OMIM:176270
HP:0033747	Abnormal exteroceptive sensation	791114	PWRN1	OMIM:176270
HP:0033747	Abnormal exteroceptive sensation	7343	UBTF	ORPHA:500180
HP:0033747	Abnormal exteroceptive sensation	3190	HNRNPK	ORPHA:453504
HP:0033747	Abnormal exteroceptive sensation	3190	HNRNPK	ORPHA:352665
HP:0033747	Abnormal exteroceptive sensation	9839	ZEB2	ORPHA:261537
HP:0033747	Abnormal exteroceptive sensation	9839	ZEB2	ORPHA:261552
HP:0033747	Abnormal exteroceptive sensation	5631	PRPS1	ORPHA:99014
HP:0033747	Abnormal exteroceptive sensation	6792	CDKL5	ORPHA:3095
HP:0033747	Abnormal exteroceptive sensation	6792	CDKL5	ORPHA:505652
HP:0033747	Abnormal exteroceptive sensation	22854	NTNG1	ORPHA:3095
HP:0033747	Abnormal exteroceptive sensation	9568	GABBR2	ORPHA:3095
HP:0033747	Abnormal exteroceptive sensation	4204	MECP2	ORPHA:3095
HP:0033747	Abnormal exteroceptive sensation	8243	SMC1A	ORPHA:3095
HP:0033747	Abnormal exteroceptive sensation	8567	MADD	OMIM:619004
HP:0033747	Abnormal exteroceptive sensation	8567	MADD	OMIM:619005
HP:0033747	Abnormal exteroceptive sensation	5375	PMP2	OMIM:618279
HP:0033747	Abnormal exteroceptive sensation	8566	PDXK	OMIM:618511
HP:0033747	Abnormal exteroceptive sensation	283489	CHAMP1	OMIM:616579
HP:0033747	Abnormal exteroceptive sensation	6652	SORD	OMIM:618912
HP:0033747	Abnormal exteroceptive sensation	2314	FLII	ORPHA:819
HP:0033747	Abnormal exteroceptive sensation	23096	IQSEC2	ORPHA:819
HP:0033747	Abnormal exteroceptive sensation	10743	RAI1	ORPHA:819
HP:0033747	Abnormal exteroceptive sensation	10743	RAI1	OMIM:182290
HP:0033747	Abnormal exteroceptive sensation	3481	IGF2	ORPHA:2128
HP:0033747	Abnormal exteroceptive sensation	10984	KCNQ1OT1	ORPHA:2128
HP:0033747	Abnormal exteroceptive sensation	283120	H19	ORPHA:2128
HP:0033747	Abnormal exteroceptive sensation	8888	MCM3AP	OMIM:618124
HP:0033747	Abnormal exteroceptive sensation	2200	FBN1	ORPHA:2833
HP:0033747	Abnormal exteroceptive sensation	59345	GNB4	OMIM:615185
HP:0033747	Abnormal exteroceptive sensation	5981	RFC1	OMIM:614575
HP:0033747	Abnormal exteroceptive sensation	79628	SH3TC2	ORPHA:99949
HP:0033747	Abnormal exteroceptive sensation	6638	SNRPN	ORPHA:177904
HP:0033747	Abnormal exteroceptive sensation	6638	SNRPN	ORPHA:177901
HP:0033747	Abnormal exteroceptive sensation	6638	SNRPN	ORPHA:98754
HP:0033747	Abnormal exteroceptive sensation	4692	NDN	ORPHA:177904
HP:0033747	Abnormal exteroceptive sensation	4692	NDN	ORPHA:177901
HP:0033747	Abnormal exteroceptive sensation	4692	NDN	ORPHA:98754
HP:0033747	Abnormal exteroceptive sensation	54551	MAGEL2	ORPHA:177904
HP:0033747	Abnormal exteroceptive sensation	54551	MAGEL2	ORPHA:177901
HP:0033747	Abnormal exteroceptive sensation	54551	MAGEL2	ORPHA:398069
HP:0033747	Abnormal exteroceptive sensation	54551	MAGEL2	ORPHA:98754
HP:0033747	Abnormal exteroceptive sensation	4948	OCA2	ORPHA:177904
HP:0033747	Abnormal exteroceptive sensation	4948	OCA2	ORPHA:177901
HP:0033747	Abnormal exteroceptive sensation	4948	OCA2	ORPHA:98754
HP:0033747	Abnormal exteroceptive sensation	182	JAG1	OMIM:619574
HP:0033747	Abnormal exteroceptive sensation	85446	ZFHX2	OMIM:147430
HP:0033747	Abnormal exteroceptive sensation	4803	NGF	ORPHA:64752
HP:0033747	Abnormal exteroceptive sensation	4803	NGF	OMIM:608654
HP:0033747	Abnormal exteroceptive sensation	4914	NTRK1	ORPHA:64752
HP:0033747	Abnormal exteroceptive sensation	4914	NTRK1	ORPHA:642
HP:0033747	Abnormal exteroceptive sensation	4010	LMX1B	ORPHA:2614
HP:0033747	Abnormal exteroceptive sensation	59335	PRDM12	OMIM:616488
HP:0033747	Abnormal exteroceptive sensation	19	ABCA1	OMIM:205400
HP:0033747	Abnormal exteroceptive sensation	19	ABCA1	ORPHA:31150
HP:0033747	Abnormal exteroceptive sensation	3868	KRT16	ORPHA:2199
HP:0033747	Abnormal exteroceptive sensation	3857	KRT9	ORPHA:2199
HP:0033747	Abnormal exteroceptive sensation	3848	KRT1	ORPHA:2199
HP:0033747	Abnormal exteroceptive sensation	3248	HPGD	ORPHA:2796
HP:0033747	Abnormal exteroceptive sensation	6578	SLCO2A1	ORPHA:2796
HP:0033747	Abnormal exteroceptive sensation	81790	RNF170	OMIM:619686
HP:0033747	Abnormal exteroceptive sensation	3074	HEXB	OMIM:268800
HP:0033747	Abnormal exteroceptive sensation	7051	TGM1	ORPHA:100976
HP:0033747	Abnormal exteroceptive sensation	6492	SIM1	ORPHA:398079
HP:0033747	Abnormal exteroceptive sensation	165	AEBP1	ORPHA:536532
HP:0033747	Abnormal exteroceptive sensation	3315	HSPB1	ORPHA:99940
HP:0033747	Abnormal exteroceptive sensation	4359	MPZ	ORPHA:3115
HP:0033747	Abnormal exteroceptive sensation	10558	SPTLC1	ORPHA:36386
HP:0033747	Abnormal exteroceptive sensation	25923	ATL3	ORPHA:36386
HP:0033747	Abnormal exteroceptive sensation	9517	SPTLC2	ORPHA:36386
HP:0033747	Abnormal exteroceptive sensation	4677	NARS1	OMIM:619091
HP:0033747	Abnormal exteroceptive sensation	4677	NARS1	OMIM:619092
HP:0033747	Abnormal exteroceptive sensation	2581	GALC	ORPHA:206443
HP:0033747	Abnormal exteroceptive sensation	2581	GALC	ORPHA:206448
HP:0033747	Abnormal exteroceptive sensation	26278	SACS	ORPHA:98
HP:0033747	Abnormal exteroceptive sensation	80821	DDHD1	ORPHA:101008
HP:0033747	Abnormal exteroceptive sensation	8218	CLTCL1	ORPHA:453510
HP:0033747	Abnormal exteroceptive sensation	22880	MORC2	ORPHA:466768
HP:0033747	Abnormal exteroceptive sensation	23400	ATP13A2	OMIM:617225
HP:0033747	Abnormal exteroceptive sensation	54332	GDAP1	ORPHA:101097
HP:0033747	Abnormal exteroceptive sensation	3098	HK1	ORPHA:99953
HP:0033747	Abnormal exteroceptive sensation	25894	PLEKHG4	ORPHA:98765
HP:0033747	Abnormal exteroceptive sensation	10522	DEAF1	ORPHA:468620
HP:0033747	Abnormal exteroceptive sensation	8831	SYNGAP1	ORPHA:544254
HP:0033747	Abnormal exteroceptive sensation	5832	ALDH18A1	ORPHA:447753
HP:0033747	Abnormal exteroceptive sensation	6389	SDHA	OMIM:619259
HP:0033747	Abnormal exteroceptive sensation	6336	SCN10A	OMIM:615551
HP:0033747	Abnormal exteroceptive sensation	6336	SCN10A	ORPHA:90026
HP:0033747	Abnormal exteroceptive sensation	114548	NLRP3	ORPHA:47045
HP:0033747	Abnormal exteroceptive sensation	215	ABCD1	ORPHA:139399
HP:0033747	Abnormal exteroceptive sensation	11280	SCN11A	ORPHA:90026
HP:0033747	Abnormal exteroceptive sensation	113189	CHST14	ORPHA:2953
HP:0033747	Abnormal exteroceptive sensation	113189	CHST14	OMIM:601776
HP:0033747	Abnormal exteroceptive sensation	29940	DSE	ORPHA:2953
HP:0033747	Abnormal exteroceptive sensation	22943	DKK1	ORPHA:268882
HP:0033747	Abnormal exteroceptive sensation	8659	ALDH4A1	ORPHA:79101
HP:0033747	Abnormal exteroceptive sensation	2332	FMR1	ORPHA:93256
HP:0033747	Abnormal exteroceptive sensation	65998	ZFTA	ORPHA:251636
HP:0033747	Abnormal exteroceptive sensation	9409	PEX16	OMIM:614877
HP:0033747	Abnormal exteroceptive sensation	1836	SLC26A2	ORPHA:93307
HP:0033747	Abnormal exteroceptive sensation	1311	COMP	OMIM:619161
HP:0033747	Abnormal exteroceptive sensation	57679	ALS2	OMIM:205100
HP:0033747	Abnormal exteroceptive sensation	84504	NKX6-2	OMIM:617560
HP:0033747	Abnormal exteroceptive sensation	56652	TWNK	OMIM:607459
HP:0033747	Abnormal exteroceptive sensation	27247	NFU1	OMIM:620938
HP:0033747	Abnormal exteroceptive sensation	547	KIF1A	OMIM:614213
HP:0033747	Abnormal exteroceptive sensation	6709	SPTAN1	OMIM:620528
HP:0033747	Abnormal exteroceptive sensation	9692	PRORP	OMIM:619737
HP:0033747	Abnormal exteroceptive sensation	57462	MYORG	OMIM:618317
HP:0033747	Abnormal exteroceptive sensation	170689	ADAMTS15	OMIM:620545
HP:0033747	Abnormal exteroceptive sensation	540	ATP7B	OMIM:277900
HP:0033747	Abnormal exteroceptive sensation	121512	FGD4	OMIM:609311
HP:0033747	Abnormal exteroceptive sensation	1277	COL1A1	ORPHA:1310
HP:0033747	Abnormal exteroceptive sensation	259232	NALCN	ORPHA:371364
HP:0033747	Abnormal exteroceptive sensation	285175	UNC80	ORPHA:371364
HP:0033747	Abnormal exteroceptive sensation	5660	PSAP	ORPHA:206436
HP:0033747	Abnormal exteroceptive sensation	3265	HRAS	ORPHA:2874
HP:0033748	Hypoesthesia	5376	PMP22	OMIM:162500
HP:0033748	Hypoesthesia	4210	MEFV	ORPHA:342
HP:0033748	Hypoesthesia	56652	TWNK	OMIM:607459
HP:0033748	Hypoesthesia	5428	POLG	OMIM:607459
HP:0033748	Hypoesthesia	5428	POLG	OMIM:603041
HP:0033748	Hypoesthesia	11235	PDCD10	ORPHA:221061
HP:0033748	Hypoesthesia	5290	PIK3CA	ORPHA:221061
HP:0033748	Hypoesthesia	83605	CCM2	ORPHA:221061
HP:0033748	Hypoesthesia	889	KRIT1	ORPHA:221061
HP:0033748	Hypoesthesia	27247	NFU1	OMIM:620938
HP:0033748	Hypoesthesia	25923	ATL3	OMIM:615632
HP:0033748	Hypoesthesia	547	KIF1A	OMIM:614213
HP:0033748	Hypoesthesia	6709	SPTAN1	OMIM:620528
HP:0033748	Hypoesthesia	9692	PRORP	OMIM:619737
HP:0033748	Hypoesthesia	59335	PRDM12	OMIM:616488
HP:0033748	Hypoesthesia	4771	NF2	ORPHA:93921
HP:0033748	Hypoesthesia	6598	SMARCB1	ORPHA:93921
HP:0033748	Hypoesthesia	51004	COQ6	ORPHA:93921
HP:0033748	Hypoesthesia	8216	LZTR1	ORPHA:93921
HP:0033748	Hypoesthesia	10801	SEPTIN9	ORPHA:2901
HP:0033748	Hypoesthesia	57462	MYORG	OMIM:618317
HP:0033748	Hypoesthesia	170689	ADAMTS15	OMIM:620545
HP:0033748	Hypoesthesia	1890	TYMP	OMIM:603041
HP:0033748	Hypoesthesia	540	ATP7B	OMIM:277900
HP:0033748	Hypoesthesia	9516	LITAF	OMIM:601098
HP:0033748	Hypoesthesia	710	SERPING1	OMIM:106100
HP:0033748	Hypoesthesia	121512	FGD4	OMIM:609311
HP:0007617	Fine, reticulate skin pigmentation	26277	TINF2	OMIM:268130
HP:0007618	Subcutaneous calcification	7486	WRN	OMIM:277700
HP:0007618	Subcutaneous calcification	7486	WRN	ORPHA:902
HP:0007618	Subcutaneous calcification	4000	LMNA	ORPHA:79474
HP:0007618	Subcutaneous calcification	8074	FGF23	OMIM:617993
HP:0007618	Subcutaneous calcification	5702	PSMC3	OMIM:619354
HP:0007610	Blotching pigmentation of the skin	667	DST	OMIM:614653
HP:0007610	Blotching pigmentation of the skin	3977	LIFR	OMIM:601559
HP:0006739	Squamous cell carcinoma of the skin	7298	TYMS	OMIM:620040
HP:0006739	Squamous cell carcinoma of the skin	284654	RSPO1	ORPHA:85112
HP:0006739	Squamous cell carcinoma of the skin	147138	TMC8	OMIM:618231
HP:0006739	Squamous cell carcinoma of the skin	1643	DDB2	OMIM:278740
HP:0006739	Squamous cell carcinoma of the skin	3574	IL7	OMIM:618309
HP:0006739	Squamous cell carcinoma of the skin	4000	LMNA	ORPHA:363618
HP:0006739	Squamous cell carcinoma of the skin	2071	ERCC3	OMIM:610651
HP:0006739	Squamous cell carcinoma of the skin	2071	ERCC3	ORPHA:220295
HP:0006739	Squamous cell carcinoma of the skin	2068	ERCC2	ORPHA:220295
HP:0006739	Squamous cell carcinoma of the skin	2073	ERCC5	ORPHA:220295
HP:0006739	Squamous cell carcinoma of the skin	2072	ERCC4	ORPHA:220295
HP:0006739	Squamous cell carcinoma of the skin	56916	SMARCAD1	OMIM:181600
HP:0006739	Squamous cell carcinoma of the skin	26277	TINF2	OMIM:127550
HP:0006739	Squamous cell carcinoma of the skin	7012	TERC	OMIM:127550
HP:0006739	Squamous cell carcinoma of the skin	7015	TERT	OMIM:127550
HP:0006739	Squamous cell carcinoma of the skin	6775	STAT4	OMIM:620443
HP:0006739	Squamous cell carcinoma of the skin	3852	KRT5	ORPHA:79396
HP:0006739	Squamous cell carcinoma of the skin	3861	KRT14	ORPHA:79396
HP:0006739	Squamous cell carcinoma of the skin	7299	TYR	ORPHA:79431
HP:0006739	Squamous cell carcinoma of the skin	7299	TYR	ORPHA:79434
HP:0006739	Squamous cell carcinoma of the skin	92345	NAF1	OMIM:620365
HP:0006739	Squamous cell carcinoma of the skin	4157	MC1R	ORPHA:79432
HP:0006739	Squamous cell carcinoma of the skin	4948	OCA2	ORPHA:79432
HP:0006739	Squamous cell carcinoma of the skin	7508	XPC	OMIM:278720
HP:0006739	Squamous cell carcinoma of the skin	7507	XPA	OMIM:278700
HP:0430143	Elevated circulating C12 acylcarnitine concentration	51241	COX16	OMIM:619355
HP:0430147	Abnormal circulating inhibin B concentration	6638	SNRPN	ORPHA:177904
HP:0430147	Abnormal circulating inhibin B concentration	6638	SNRPN	ORPHA:177901
HP:0430147	Abnormal circulating inhibin B concentration	6638	SNRPN	ORPHA:98754
HP:0430147	Abnormal circulating inhibin B concentration	4692	NDN	ORPHA:177904
HP:0430147	Abnormal circulating inhibin B concentration	4692	NDN	ORPHA:177901
HP:0430147	Abnormal circulating inhibin B concentration	4692	NDN	ORPHA:98754
HP:0430147	Abnormal circulating inhibin B concentration	54551	MAGEL2	ORPHA:177904
HP:0430147	Abnormal circulating inhibin B concentration	54551	MAGEL2	ORPHA:177901
HP:0430147	Abnormal circulating inhibin B concentration	54551	MAGEL2	ORPHA:98754
HP:0430147	Abnormal circulating inhibin B concentration	4948	OCA2	ORPHA:177904
HP:0430147	Abnormal circulating inhibin B concentration	4948	OCA2	ORPHA:177901
HP:0430147	Abnormal circulating inhibin B concentration	4948	OCA2	ORPHA:98754
HP:0430147	Abnormal circulating inhibin B concentration	7516	XRCC2	OMIM:619146
HP:0430147	Abnormal circulating inhibin B concentration	5447	POR	ORPHA:95699
HP:0430135	Abnormal circulating hepatic transaminase concentration	1374	CPT1A	ORPHA:156
HP:0430135	Abnormal circulating hepatic transaminase concentration	1374	CPT1A	OMIM:255120
HP:0430135	Abnormal circulating hepatic transaminase concentration	6584	SLC22A5	ORPHA:158
HP:0430135	Abnormal circulating hepatic transaminase concentration	875	CBS	ORPHA:394
HP:0430135	Abnormal circulating hepatic transaminase concentration	26235	FBXL4	OMIM:615471
HP:0430135	Abnormal circulating hepatic transaminase concentration	229	ALDOB	OMIM:229600
HP:0430135	Abnormal circulating hepatic transaminase concentration	55532	SLC30A10	ORPHA:309854
HP:0430135	Abnormal circulating hepatic transaminase concentration	55532	SLC30A10	OMIM:613280
HP:0430135	Abnormal circulating hepatic transaminase concentration	1161	ERCC8	ORPHA:90324
HP:0430135	Abnormal circulating hepatic transaminase concentration	1161	ERCC8	ORPHA:90321
HP:0430135	Abnormal circulating hepatic transaminase concentration	2074	ERCC6	ORPHA:90324
HP:0430135	Abnormal circulating hepatic transaminase concentration	2074	ERCC6	ORPHA:90321
HP:0430135	Abnormal circulating hepatic transaminase concentration	60684	TRAPPC11	OMIM:615356
HP:0430135	Abnormal circulating hepatic transaminase concentration	60684	TRAPPC11	ORPHA:369840
HP:0430135	Abnormal circulating hepatic transaminase concentration	7355	SLC35A2	ORPHA:356961
HP:0430135	Abnormal circulating hepatic transaminase concentration	57539	WDR35	OMIM:613610
HP:0430135	Abnormal circulating hepatic transaminase concentration	2542	SLC37A4	OMIM:232220
HP:0430135	Abnormal circulating hepatic transaminase concentration	2542	SLC37A4	OMIM:619525
HP:0430135	Abnormal circulating hepatic transaminase concentration	80270	HSD3B7	ORPHA:79301
HP:0430135	Abnormal circulating hepatic transaminase concentration	80270	HSD3B7	OMIM:607765
HP:0430135	Abnormal circulating hepatic transaminase concentration	2072	ERCC4	ORPHA:90321
HP:0430135	Abnormal circulating hepatic transaminase concentration	2072	ERCC4	OMIM:610965
HP:0430135	Abnormal circulating hepatic transaminase concentration	6718	AKR1D1	ORPHA:79303
HP:0430135	Abnormal circulating hepatic transaminase concentration	6718	AKR1D1	OMIM:235555
HP:0430135	Abnormal circulating hepatic transaminase concentration	79848	CSPP1	ORPHA:397715
HP:0430135	Abnormal circulating hepatic transaminase concentration	9786	KIAA0586	ORPHA:397715
HP:0430135	Abnormal circulating hepatic transaminase concentration	6729	SRP54	OMIM:618752
HP:0430135	Abnormal circulating hepatic transaminase concentration	6729	SRP54	OMIM:260400
HP:0430135	Abnormal circulating hepatic transaminase concentration	162	AP1B1	OMIM:242150
HP:0430135	Abnormal circulating hepatic transaminase concentration	1376	CPT2	OMIM:600649
HP:0430135	Abnormal circulating hepatic transaminase concentration	1376	CPT2	OMIM:608836
HP:0430135	Abnormal circulating hepatic transaminase concentration	1376	CPT2	ORPHA:228305
HP:0430135	Abnormal circulating hepatic transaminase concentration	79947	DHDDS	OMIM:613861
HP:0430135	Abnormal circulating hepatic transaminase concentration	23600	AMACR	ORPHA:79095
HP:0430135	Abnormal circulating hepatic transaminase concentration	23600	AMACR	OMIM:214950
HP:0430135	Abnormal circulating hepatic transaminase concentration	9200	HACD1	OMIM:619967
HP:0430135	Abnormal circulating hepatic transaminase concentration	55768	NGLY1	ORPHA:404454
HP:0430135	Abnormal circulating hepatic transaminase concentration	55768	NGLY1	OMIM:615273
HP:0430135	Abnormal circulating hepatic transaminase concentration	134218	DNAJC21	ORPHA:811
HP:0430135	Abnormal circulating hepatic transaminase concentration	134218	DNAJC21	OMIM:260400
HP:0430135	Abnormal circulating hepatic transaminase concentration	79631	EFL1	ORPHA:811
HP:0430135	Abnormal circulating hepatic transaminase concentration	51119	SBDS	ORPHA:811
HP:0430135	Abnormal circulating hepatic transaminase concentration	51119	SBDS	OMIM:260400
HP:0430135	Abnormal circulating hepatic transaminase concentration	54658	UGT1A1	OMIM:143500
HP:0430135	Abnormal circulating hepatic transaminase concentration	54658	UGT1A1	OMIM:606785
HP:0430135	Abnormal circulating hepatic transaminase concentration	54658	UGT1A1	OMIM:218800
HP:0430135	Abnormal circulating hepatic transaminase concentration	5428	POLG	ORPHA:298
HP:0430135	Abnormal circulating hepatic transaminase concentration	5428	POLG	OMIM:203700
HP:0430135	Abnormal circulating hepatic transaminase concentration	5428	POLG	ORPHA:254892
HP:0430135	Abnormal circulating hepatic transaminase concentration	1890	TYMP	ORPHA:298
HP:0430135	Abnormal circulating hepatic transaminase concentration	3980	LIG3	ORPHA:298
HP:0430135	Abnormal circulating hepatic transaminase concentration	50484	RRM2B	ORPHA:298
HP:0430135	Abnormal circulating hepatic transaminase concentration	50484	RRM2B	ORPHA:254892
HP:0430135	Abnormal circulating hepatic transaminase concentration	25839	COG4	ORPHA:263501
HP:0430135	Abnormal circulating hepatic transaminase concentration	25839	COG4	OMIM:613489
HP:0430135	Abnormal circulating hepatic transaminase concentration	1738	DLD	ORPHA:2394
HP:0430135	Abnormal circulating hepatic transaminase concentration	1738	DLD	OMIM:246900
HP:0430135	Abnormal circulating hepatic transaminase concentration	55687	TRMU	OMIM:613070
HP:0430135	Abnormal circulating hepatic transaminase concentration	60561	RINT1	OMIM:618641
HP:0430135	Abnormal circulating hepatic transaminase concentration	4358	MPV17	OMIM:618400
HP:0430135	Abnormal circulating hepatic transaminase concentration	2859	GPR35	ORPHA:171
HP:0430135	Abnormal circulating hepatic transaminase concentration	10507	SEMA4D	ORPHA:171
HP:0430135	Abnormal circulating hepatic transaminase concentration	4485	MST1	ORPHA:171
HP:0430135	Abnormal circulating hepatic transaminase concentration	6925	TCF4	ORPHA:171
HP:0430135	Abnormal circulating hepatic transaminase concentration	5896	RAG1	ORPHA:331206
HP:0430135	Abnormal circulating hepatic transaminase concentration	5897	RAG2	ORPHA:331206
HP:0430135	Abnormal circulating hepatic transaminase concentration	2538	G6PC1	OMIM:232200
HP:0430135	Abnormal circulating hepatic transaminase concentration	22897	CEP164	OMIM:614845
HP:0430135	Abnormal circulating hepatic transaminase concentration	3117	HLA-DQA1	OMIM:212750
HP:0430135	Abnormal circulating hepatic transaminase concentration	3119	HLA-DQB1	OMIM:212750
HP:0430135	Abnormal circulating hepatic transaminase concentration	7840	ALMS1	OMIM:203800
HP:0430135	Abnormal circulating hepatic transaminase concentration	7840	ALMS1	ORPHA:64
HP:0430135	Abnormal circulating hepatic transaminase concentration	1716	DGUOK	OMIM:251880
HP:0430135	Abnormal circulating hepatic transaminase concentration	1716	DGUOK	OMIM:617068
HP:0430135	Abnormal circulating hepatic transaminase concentration	10555	AGPAT2	OMIM:608594
HP:0430135	Abnormal circulating hepatic transaminase concentration	1130	LYST	ORPHA:167
HP:0430135	Abnormal circulating hepatic transaminase concentration	9377	COX5A	OMIM:619064
HP:0430135	Abnormal circulating hepatic transaminase concentration	5424	POLD1	OMIM:615381
HP:0430135	Abnormal circulating hepatic transaminase concentration	23166	STAB1	OMIM:620729
HP:0430135	Abnormal circulating hepatic transaminase concentration	11232	POLG2	OMIM:610131
HP:0430135	Abnormal circulating hepatic transaminase concentration	11232	POLG2	ORPHA:254892
HP:0430135	Abnormal circulating hepatic transaminase concentration	9131	AIFM1	OMIM:310490
HP:0430135	Abnormal circulating hepatic transaminase concentration	84342	COG8	ORPHA:95428
HP:0430135	Abnormal circulating hepatic transaminase concentration	84342	COG8	OMIM:611182
HP:0430135	Abnormal circulating hepatic transaminase concentration	4598	MVK	OMIM:610377
HP:0430135	Abnormal circulating hepatic transaminase concentration	51021	MRPS16	OMIM:610498
HP:0430135	Abnormal circulating hepatic transaminase concentration	63894	VIPAS39	OMIM:613404
HP:0430135	Abnormal circulating hepatic transaminase concentration	28976	ACAD9	ORPHA:99901
HP:0430135	Abnormal circulating hepatic transaminase concentration	28976	ACAD9	OMIM:611126
HP:0430135	Abnormal circulating hepatic transaminase concentration	788	SLC25A20	ORPHA:159
HP:0430135	Abnormal circulating hepatic transaminase concentration	788	SLC25A20	OMIM:212138
HP:0430135	Abnormal circulating hepatic transaminase concentration	5373	PMM2	OMIM:212065
HP:0430135	Abnormal circulating hepatic transaminase concentration	5373	PMM2	ORPHA:79318
HP:0430135	Abnormal circulating hepatic transaminase concentration	1798	DPAGT1	ORPHA:86309
HP:0430135	Abnormal circulating hepatic transaminase concentration	1798	DPAGT1	OMIM:608093
HP:0430135	Abnormal circulating hepatic transaminase concentration	9056	SLC7A7	ORPHA:470
HP:0430135	Abnormal circulating hepatic transaminase concentration	92482	BBIP1	ORPHA:110
HP:0430135	Abnormal circulating hepatic transaminase concentration	80184	CEP290	ORPHA:110
HP:0430135	Abnormal circulating hepatic transaminase concentration	11020	IFT27	ORPHA:110
HP:0430135	Abnormal circulating hepatic transaminase concentration	582	BBS1	ORPHA:110
HP:0430135	Abnormal circulating hepatic transaminase concentration	49855	SCAPER	ORPHA:110
HP:0430135	Abnormal circulating hepatic transaminase concentration	4867	NPHP1	ORPHA:110
HP:0430135	Abnormal circulating hepatic transaminase concentration	51057	WDPCP	ORPHA:110
HP:0430135	Abnormal circulating hepatic transaminase concentration	132320	SCLT1	ORPHA:110
HP:0430135	Abnormal circulating hepatic transaminase concentration	27241	BBS9	ORPHA:110
HP:0430135	Abnormal circulating hepatic transaminase concentration	84984	CEP19	ORPHA:110
HP:0430135	Abnormal circulating hepatic transaminase concentration	22954	TRIM32	ORPHA:110
HP:0430135	Abnormal circulating hepatic transaminase concentration	54903	MKS1	ORPHA:110
HP:0430135	Abnormal circulating hepatic transaminase concentration	79738	BBS10	ORPHA:110
HP:0430135	Abnormal circulating hepatic transaminase concentration	123016	TTC8	ORPHA:110
HP:0430135	Abnormal circulating hepatic transaminase concentration	26160	IFT172	ORPHA:110
HP:0430135	Abnormal circulating hepatic transaminase concentration	26160	IFT172	OMIM:619471
HP:0430135	Abnormal circulating hepatic transaminase concentration	583	BBS2	ORPHA:110
HP:0430135	Abnormal circulating hepatic transaminase concentration	585	BBS4	ORPHA:110
HP:0430135	Abnormal circulating hepatic transaminase concentration	8195	MKKS	ORPHA:110
HP:0430135	Abnormal circulating hepatic transaminase concentration	54585	LZTFL1	ORPHA:110
HP:0430135	Abnormal circulating hepatic transaminase concentration	55212	BBS7	ORPHA:110
HP:0430135	Abnormal circulating hepatic transaminase concentration	166379	BBS12	ORPHA:110
HP:0430135	Abnormal circulating hepatic transaminase concentration	10806	SDCCAG8	ORPHA:110
HP:0430135	Abnormal circulating hepatic transaminase concentration	157657	CFAP418	ORPHA:110
HP:0430135	Abnormal circulating hepatic transaminase concentration	157657	CFAP418	OMIM:617406
HP:0430135	Abnormal circulating hepatic transaminase concentration	84100	ARL6	ORPHA:110
HP:0430135	Abnormal circulating hepatic transaminase concentration	129880	BBS5	ORPHA:110
HP:0430135	Abnormal circulating hepatic transaminase concentration	80173	IFT74	ORPHA:110
HP:0430135	Abnormal circulating hepatic transaminase concentration	51594	NBAS	OMIM:616483
HP:0430135	Abnormal circulating hepatic transaminase concentration	11277	TREX1	OMIM:192315
HP:0430135	Abnormal circulating hepatic transaminase concentration	11277	TREX1	ORPHA:51
HP:0430135	Abnormal circulating hepatic transaminase concentration	11277	TREX1	OMIM:225750
HP:0430135	Abnormal circulating hepatic transaminase concentration	54914	FOCAD	OMIM:619991
HP:0430135	Abnormal circulating hepatic transaminase concentration	2677	GGCX	OMIM:277450
HP:0430135	Abnormal circulating hepatic transaminase concentration	10068	IL18BP	OMIM:618549
HP:0430135	Abnormal circulating hepatic transaminase concentration	540	ATP7B	ORPHA:905
HP:0430135	Abnormal circulating hepatic transaminase concentration	2321	FLT1	ORPHA:275555
HP:0430135	Abnormal circulating hepatic transaminase concentration	219736	STOX1	ORPHA:275555
HP:0430135	Abnormal circulating hepatic transaminase concentration	10699	CORIN	ORPHA:275555
HP:0430135	Abnormal circulating hepatic transaminase concentration	5836	PYGL	OMIM:232700
HP:0430135	Abnormal circulating hepatic transaminase concentration	5836	PYGL	ORPHA:369
HP:0430135	Abnormal circulating hepatic transaminase concentration	10056	FARSB	OMIM:613658
HP:0430135	Abnormal circulating hepatic transaminase concentration	2203	FBP1	ORPHA:348
HP:0430135	Abnormal circulating hepatic transaminase concentration	472	ATM	ORPHA:100
HP:0430135	Abnormal circulating hepatic transaminase concentration	5551	PRF1	OMIM:603553
HP:0430135	Abnormal circulating hepatic transaminase concentration	5551	PRF1	ORPHA:540
HP:0430135	Abnormal circulating hepatic transaminase concentration	6804	STX1A	ORPHA:586
HP:0430135	Abnormal circulating hepatic transaminase concentration	2947	GSTM3	ORPHA:586
HP:0430135	Abnormal circulating hepatic transaminase concentration	7040	TGFB1	ORPHA:586
HP:0430135	Abnormal circulating hepatic transaminase concentration	2729	GCLC	ORPHA:586
HP:0430135	Abnormal circulating hepatic transaminase concentration	1084	CEACAM3	ORPHA:586
HP:0430135	Abnormal circulating hepatic transaminase concentration	6556	SLC11A1	ORPHA:586
HP:0430135	Abnormal circulating hepatic transaminase concentration	51164	DCTN4	ORPHA:586
HP:0430135	Abnormal circulating hepatic transaminase concentration	3783	KCNN4	ORPHA:586
HP:0430135	Abnormal circulating hepatic transaminase concentration	4282	MIF	ORPHA:586
HP:0430135	Abnormal circulating hepatic transaminase concentration	1909	EDNRA	ORPHA:586
HP:0430135	Abnormal circulating hepatic transaminase concentration	6550	SLC9A3	ORPHA:586
HP:0430135	Abnormal circulating hepatic transaminase concentration	3162	HMOX1	ORPHA:586
HP:0430135	Abnormal circulating hepatic transaminase concentration	115019	SLC26A9	ORPHA:586
HP:0430135	Abnormal circulating hepatic transaminase concentration	3077	HFE	ORPHA:586
HP:0430135	Abnormal circulating hepatic transaminase concentration	3077	HFE	OMIM:235200
HP:0430135	Abnormal circulating hepatic transaminase concentration	11254	SLC6A14	ORPHA:586
HP:0430135	Abnormal circulating hepatic transaminase concentration	5265	SERPINA1	ORPHA:586
HP:0430135	Abnormal circulating hepatic transaminase concentration	5265	SERPINA1	OMIM:613490
HP:0430135	Abnormal circulating hepatic transaminase concentration	1080	CFTR	ORPHA:586
HP:0430135	Abnormal circulating hepatic transaminase concentration	22802	CLCA4	ORPHA:586
HP:0430135	Abnormal circulating hepatic transaminase concentration	4680	CEACAM6	ORPHA:586
HP:0430135	Abnormal circulating hepatic transaminase concentration	5244	ABCB4	OMIM:602347
HP:0430135	Abnormal circulating hepatic transaminase concentration	5244	ABCB4	ORPHA:69663
HP:0430135	Abnormal circulating hepatic transaminase concentration	5244	ABCB4	ORPHA:69665
HP:0430135	Abnormal circulating hepatic transaminase concentration	5244	ABCB4	OMIM:600803
HP:0430135	Abnormal circulating hepatic transaminase concentration	8818	DPM2	OMIM:615042
HP:0430135	Abnormal circulating hepatic transaminase concentration	8818	DPM2	ORPHA:329178
HP:0430135	Abnormal circulating hepatic transaminase concentration	7385	UQCRC2	OMIM:615160
HP:0430135	Abnormal circulating hepatic transaminase concentration	130340	AP1S3	ORPHA:247353
HP:0430135	Abnormal circulating hepatic transaminase concentration	26525	IL36RN	ORPHA:247353
HP:0430135	Abnormal circulating hepatic transaminase concentration	57169	ZNFX1	OMIM:619644
HP:0430135	Abnormal circulating hepatic transaminase concentration	25970	SH2B1	ORPHA:329249
HP:0430135	Abnormal circulating hepatic transaminase concentration	5205	ATP8B1	ORPHA:69665
HP:0430135	Abnormal circulating hepatic transaminase concentration	5205	ATP8B1	OMIM:147480
HP:0430135	Abnormal circulating hepatic transaminase concentration	8647	ABCB11	ORPHA:69665
HP:0430135	Abnormal circulating hepatic transaminase concentration	9971	NR1H4	ORPHA:69665
HP:0430135	Abnormal circulating hepatic transaminase concentration	182	JAG1	OMIM:118450
HP:0430135	Abnormal circulating hepatic transaminase concentration	10165	SLC25A13	ORPHA:247598
HP:0430135	Abnormal circulating hepatic transaminase concentration	10165	SLC25A13	ORPHA:247585
HP:0430135	Abnormal circulating hepatic transaminase concentration	84033	OBSCN	ORPHA:99845
HP:0430135	Abnormal circulating hepatic transaminase concentration	23175	LPIN1	ORPHA:99845
HP:0430135	Abnormal circulating hepatic transaminase concentration	4512	MT-CO1	ORPHA:99845
HP:0430135	Abnormal circulating hepatic transaminase concentration	4514	MT-CO3	ORPHA:99845
HP:0430135	Abnormal circulating hepatic transaminase concentration	6392	SDHD	ORPHA:100093
HP:0430135	Abnormal circulating hepatic transaminase concentration	51128	SAR1B	ORPHA:71
HP:0430135	Abnormal circulating hepatic transaminase concentration	2683	B4GALT1	ORPHA:79332
HP:0430135	Abnormal circulating hepatic transaminase concentration	91949	COG7	ORPHA:79333
HP:0430135	Abnormal circulating hepatic transaminase concentration	57104	PNPLA2	OMIM:610717
HP:0430135	Abnormal circulating hepatic transaminase concentration	57104	PNPLA2	ORPHA:98908
HP:0430135	Abnormal circulating hepatic transaminase concentration	9968	MED12	OMIM:301068
HP:0430135	Abnormal circulating hepatic transaminase concentration	9493	KIF23	ORPHA:98870
HP:0430135	Abnormal circulating hepatic transaminase concentration	29127	RACGAP1	ORPHA:98870
HP:0430135	Abnormal circulating hepatic transaminase concentration	4846	NOS3	OMIM:189800
HP:0430135	Abnormal circulating hepatic transaminase concentration	34	ACADM	ORPHA:42
HP:0430135	Abnormal circulating hepatic transaminase concentration	34	ACADM	OMIM:201450
HP:0430135	Abnormal circulating hepatic transaminase concentration	8813	DPM1	OMIM:608799
HP:0430135	Abnormal circulating hepatic transaminase concentration	8813	DPM1	ORPHA:79322
HP:0430135	Abnormal circulating hepatic transaminase concentration	811	CALR	ORPHA:131
HP:0430135	Abnormal circulating hepatic transaminase concentration	3717	JAK2	ORPHA:131
HP:0430135	Abnormal circulating hepatic transaminase concentration	2153	F5	ORPHA:131
HP:0430135	Abnormal circulating hepatic transaminase concentration	5692	PSMB4	OMIM:617591
HP:0430135	Abnormal circulating hepatic transaminase concentration	125988	MICOS13	OMIM:618329
HP:0430135	Abnormal circulating hepatic transaminase concentration	50943	FOXP3	ORPHA:37042
HP:0430135	Abnormal circulating hepatic transaminase concentration	5194	PEX13	OMIM:614883
HP:0430135	Abnormal circulating hepatic transaminase concentration	3172	HNF4A	OMIM:616026
HP:0430135	Abnormal circulating hepatic transaminase concentration	3172	HNF4A	ORPHA:263455
HP:0430135	Abnormal circulating hepatic transaminase concentration	57817	HAMP	OMIM:613313
HP:0430135	Abnormal circulating hepatic transaminase concentration	57817	HAMP	ORPHA:79230
HP:0430135	Abnormal circulating hepatic transaminase concentration	5824	PEX19	OMIM:614886
HP:0430135	Abnormal circulating hepatic transaminase concentration	147007	TMEM199	OMIM:616829
HP:0430135	Abnormal circulating hepatic transaminase concentration	84317	CCDC115	OMIM:616828
HP:0430135	Abnormal circulating hepatic transaminase concentration	2184	FAH	OMIM:276700
HP:0430135	Abnormal circulating hepatic transaminase concentration	79087	ALG12	ORPHA:79324
HP:0430135	Abnormal circulating hepatic transaminase concentration	79053	ALG8	ORPHA:79325
HP:0430135	Abnormal circulating hepatic transaminase concentration	197322	ACSF3	ORPHA:289504
HP:0430135	Abnormal circulating hepatic transaminase concentration	546	ATRX	ORPHA:100075
HP:0430135	Abnormal circulating hepatic transaminase concentration	5825	ABCD3	OMIM:616278
HP:0430135	Abnormal circulating hepatic transaminase concentration	54344	DPM3	ORPHA:263494
HP:0430135	Abnormal circulating hepatic transaminase concentration	54344	DPM3	OMIM:612937
HP:0430135	Abnormal circulating hepatic transaminase concentration	51117	COQ4	OMIM:616276
HP:0430135	Abnormal circulating hepatic transaminase concentration	51067	YARS2	OMIM:613561
HP:0430135	Abnormal circulating hepatic transaminase concentration	5256	PHKA2	ORPHA:264580
HP:0430135	Abnormal circulating hepatic transaminase concentration	5256	PHKA2	OMIM:306000
HP:0430135	Abnormal circulating hepatic transaminase concentration	5261	PHKG2	ORPHA:264580
HP:0430135	Abnormal circulating hepatic transaminase concentration	5261	PHKG2	OMIM:613027
HP:0430135	Abnormal circulating hepatic transaminase concentration	284119	CAVIN1	OMIM:613327
HP:0430135	Abnormal circulating hepatic transaminase concentration	3242	HPD	OMIM:276710
HP:0430135	Abnormal circulating hepatic transaminase concentration	2658	GDF2	OMIM:615506
HP:0430135	Abnormal circulating hepatic transaminase concentration	10535	RNASEH2A	ORPHA:51
HP:0430135	Abnormal circulating hepatic transaminase concentration	10535	RNASEH2A	OMIM:610333
HP:0430135	Abnormal circulating hepatic transaminase concentration	84153	RNASEH2C	ORPHA:51
HP:0430135	Abnormal circulating hepatic transaminase concentration	84153	RNASEH2C	OMIM:610329
HP:0430135	Abnormal circulating hepatic transaminase concentration	25939	SAMHD1	ORPHA:51
HP:0430135	Abnormal circulating hepatic transaminase concentration	79621	RNASEH2B	ORPHA:51
HP:0430135	Abnormal circulating hepatic transaminase concentration	103	ADAR	ORPHA:51
HP:0430135	Abnormal circulating hepatic transaminase concentration	100147744	RNU7-1	ORPHA:51
HP:0430135	Abnormal circulating hepatic transaminase concentration	100147744	RNU7-1	OMIM:619487
HP:0430135	Abnormal circulating hepatic transaminase concentration	134353	LSM11	ORPHA:51
HP:0430135	Abnormal circulating hepatic transaminase concentration	64135	IFIH1	ORPHA:51
HP:0430135	Abnormal circulating hepatic transaminase concentration	435	ASL	ORPHA:23
HP:0430135	Abnormal circulating hepatic transaminase concentration	10159	ATP6AP2	OMIM:301045
HP:0430135	Abnormal circulating hepatic transaminase concentration	291	SLC25A4	ORPHA:254892
HP:0430135	Abnormal circulating hepatic transaminase concentration	56652	TWNK	ORPHA:254892
HP:0430135	Abnormal circulating hepatic transaminase concentration	3155	HMGCL	ORPHA:20
HP:0430135	Abnormal circulating hepatic transaminase concentration	10466	COG5	ORPHA:263487
HP:0430135	Abnormal circulating hepatic transaminase concentration	212	ALAS2	OMIM:300752
HP:0430135	Abnormal circulating hepatic transaminase concentration	212	ALAS2	ORPHA:75563
HP:0430135	Abnormal circulating hepatic transaminase concentration	22845	DOLK	ORPHA:91131
HP:0430135	Abnormal circulating hepatic transaminase concentration	81570	CLPB	ORPHA:445038
HP:0430135	Abnormal circulating hepatic transaminase concentration	55593	OTUD5	OMIM:301056
HP:0430135	Abnormal circulating hepatic transaminase concentration	8676	STX11	ORPHA:540
HP:0430135	Abnormal circulating hepatic transaminase concentration	201294	UNC13D	ORPHA:540
HP:0430135	Abnormal circulating hepatic transaminase concentration	6813	STXBP2	ORPHA:540
HP:0430135	Abnormal circulating hepatic transaminase concentration	91147	TMEM67	OMIM:216360
HP:0430135	Abnormal circulating hepatic transaminase concentration	91147	TMEM67	ORPHA:1454
HP:0430135	Abnormal circulating hepatic transaminase concentration	91147	TMEM67	ORPHA:84081
HP:0430135	Abnormal circulating hepatic transaminase concentration	5009	OTC	ORPHA:664
HP:0430135	Abnormal circulating hepatic transaminase concentration	55182	RNF220	OMIM:619688
HP:0430135	Abnormal circulating hepatic transaminase concentration	29998	BICRA	OMIM:619325
HP:0430135	Abnormal circulating hepatic transaminase concentration	51601	LIPT1	OMIM:616299
HP:0430135	Abnormal circulating hepatic transaminase concentration	79644	SRD5A3	OMIM:612379
HP:0430135	Abnormal circulating hepatic transaminase concentration	79644	SRD5A3	ORPHA:324737
HP:0430135	Abnormal circulating hepatic transaminase concentration	10166	SLC25A15	ORPHA:415
HP:0430135	Abnormal circulating hepatic transaminase concentration	2592	GALT	ORPHA:79239
HP:0430135	Abnormal circulating hepatic transaminase concentration	427	ASAH1	ORPHA:333
HP:0430135	Abnormal circulating hepatic transaminase concentration	3106	HLA-B	ORPHA:36426
HP:0430135	Abnormal circulating hepatic transaminase concentration	10320	IKZF1	ORPHA:36426
HP:0430135	Abnormal circulating hepatic transaminase concentration	22796	COG2	OMIM:617395
HP:0430135	Abnormal circulating hepatic transaminase concentration	55240	STEAP3	ORPHA:300298
HP:0430135	Abnormal circulating hepatic transaminase concentration	3930	LBR	OMIM:613471
HP:0430135	Abnormal circulating hepatic transaminase concentration	537	ATP6AP1	OMIM:300972
HP:0430135	Abnormal circulating hepatic transaminase concentration	51218	GLRX5	OMIM:616860
HP:0430135	Abnormal circulating hepatic transaminase concentration	6928	HNF1B	OMIM:137920
HP:0430135	Abnormal circulating hepatic transaminase concentration	6928	HNF1B	ORPHA:261265
HP:0430135	Abnormal circulating hepatic transaminase concentration	6928	HNF1B	ORPHA:93111
HP:0430135	Abnormal circulating hepatic transaminase concentration	7019	TFAM	OMIM:617156
HP:0430135	Abnormal circulating hepatic transaminase concentration	11274	USP18	OMIM:617397
HP:0430135	Abnormal circulating hepatic transaminase concentration	10616	RBCK1	OMIM:615895
HP:0430135	Abnormal circulating hepatic transaminase concentration	3376	IARS1	ORPHA:541423
HP:0430135	Abnormal circulating hepatic transaminase concentration	708	C1QBP	OMIM:617713
HP:0430135	Abnormal circulating hepatic transaminase concentration	5257	PHKB	ORPHA:79240
HP:0430135	Abnormal circulating hepatic transaminase concentration	3431	SP110	ORPHA:79124
HP:0430135	Abnormal circulating hepatic transaminase concentration	128989	TANGO2	ORPHA:480864
HP:0430135	Abnormal circulating hepatic transaminase concentration	5130	PCYT1A	OMIM:620680
HP:0430135	Abnormal circulating hepatic transaminase concentration	3158	HMGCS2	OMIM:605911
HP:0430135	Abnormal circulating hepatic transaminase concentration	4547	MTTP	ORPHA:14
HP:0430135	Abnormal circulating hepatic transaminase concentration	191	AHCY	ORPHA:88618
HP:0430135	Abnormal circulating hepatic transaminase concentration	26276	VPS33B	OMIM:208085
HP:0430135	Abnormal circulating hepatic transaminase concentration	8802	SUCLG1	ORPHA:17
HP:0430135	Abnormal circulating hepatic transaminase concentration	55340	GIMAP5	OMIM:619463
HP:0430135	Abnormal circulating hepatic transaminase concentration	57511	COG6	OMIM:614576
HP:0430135	Abnormal circulating hepatic transaminase concentration	7289	TULP3	OMIM:619902
HP:0430135	Abnormal circulating hepatic transaminase concentration	56623	INPP5E	ORPHA:1454
HP:0430135	Abnormal circulating hepatic transaminase concentration	23322	RPGRIP1L	ORPHA:1454
HP:0430135	Abnormal circulating hepatic transaminase concentration	57545	CC2D2A	ORPHA:1454
HP:0430135	Abnormal circulating hepatic transaminase concentration	57545	CC2D2A	OMIM:619111
HP:0430135	Abnormal circulating hepatic transaminase concentration	672	BRCA1	ORPHA:1333
HP:0430135	Abnormal circulating hepatic transaminase concentration	285282	RABL3	ORPHA:1333
HP:0430135	Abnormal circulating hepatic transaminase concentration	7157	TP53	ORPHA:1333
HP:0430135	Abnormal circulating hepatic transaminase concentration	675	BRCA2	ORPHA:1333
HP:0430135	Abnormal circulating hepatic transaminase concentration	3845	KRAS	ORPHA:1333
HP:0430135	Abnormal circulating hepatic transaminase concentration	1029	CDKN2A	ORPHA:1333
HP:0430135	Abnormal circulating hepatic transaminase concentration	79728	PALB2	ORPHA:1333
HP:0430135	Abnormal circulating hepatic transaminase concentration	4089	SMAD4	ORPHA:1333
HP:0430135	Abnormal circulating hepatic transaminase concentration	23022	PALLD	ORPHA:1333
HP:0430135	Abnormal circulating hepatic transaminase concentration	23495	TNFRSF13B	ORPHA:1572
HP:0430135	Abnormal circulating hepatic transaminase concentration	4790	NFKB1	ORPHA:1572
HP:0430135	Abnormal circulating hepatic transaminase concentration	4791	NFKB2	ORPHA:1572
HP:0430135	Abnormal circulating hepatic transaminase concentration	115650	TNFRSF13C	ORPHA:1572
HP:0430135	Abnormal circulating hepatic transaminase concentration	1380	CR2	ORPHA:1572
HP:0430135	Abnormal circulating hepatic transaminase concentration	8742	TNFSF12	ORPHA:1572
HP:0430135	Abnormal circulating hepatic transaminase concentration	930	CD19	ORPHA:1572
HP:0430135	Abnormal circulating hepatic transaminase concentration	29851	ICOS	ORPHA:1572
HP:0430135	Abnormal circulating hepatic transaminase concentration	931	MS4A1	ORPHA:1572
HP:0430135	Abnormal circulating hepatic transaminase concentration	975	CD81	ORPHA:1572
HP:0430135	Abnormal circulating hepatic transaminase concentration	359948	IRF2BP2	ORPHA:1572
HP:0430135	Abnormal circulating hepatic transaminase concentration	148738	HJV	ORPHA:79230
HP:0430135	Abnormal circulating hepatic transaminase concentration	5498	PPOX	ORPHA:79473
HP:0430135	Abnormal circulating hepatic transaminase concentration	1756	DMD	ORPHA:98895
HP:0430135	Abnormal circulating hepatic transaminase concentration	650	BMP2	OMIM:235200
HP:0430135	Abnormal circulating hepatic transaminase concentration	3939	LDHA	ORPHA:284426
HP:0430135	Abnormal circulating hepatic transaminase concentration	51241	COX16	OMIM:619355
HP:0430135	Abnormal circulating hepatic transaminase concentration	3975	LHX1	ORPHA:261265
HP:0430135	Abnormal circulating hepatic transaminase concentration	10367	MICU1	OMIM:615673
HP:0430135	Abnormal circulating hepatic transaminase concentration	26580	BSCL2	OMIM:269700
HP:0430135	Abnormal circulating hepatic transaminase concentration	6711	SPTBN1	OMIM:619475
HP:0430135	Abnormal circulating hepatic transaminase concentration	51520	LARS1	OMIM:615438
HP:0430135	Abnormal circulating hepatic transaminase concentration	4534	MTM1	OMIM:310400
HP:0430135	Abnormal circulating hepatic transaminase concentration	7036	TFR2	OMIM:604250
HP:0430135	Abnormal circulating hepatic transaminase concentration	215	ABCD1	ORPHA:369942
HP:0430135	Abnormal circulating hepatic transaminase concentration	10134	BCAP31	ORPHA:369942
HP:0430135	Abnormal circulating hepatic transaminase concentration	440138	ALG11	ORPHA:280071
HP:0430135	Abnormal circulating hepatic transaminase concentration	10651	MTX2	OMIM:619127
HP:0430135	Abnormal circulating hepatic transaminase concentration	51124	IER3IP1	OMIM:614231
HP:0430135	Abnormal circulating hepatic transaminase concentration	200931	SLC51A	OMIM:619484
HP:0430135	Abnormal circulating hepatic transaminase concentration	51816	ADA2	OMIM:615688
HP:0430135	Abnormal circulating hepatic transaminase concentration	28957	MRPS28	OMIM:618958
HP:0430135	Abnormal circulating hepatic transaminase concentration	3075	CFH	ORPHA:244242
HP:0430135	Abnormal circulating hepatic transaminase concentration	3426	CFI	ORPHA:244242
HP:0430135	Abnormal circulating hepatic transaminase concentration	4179	CD46	ORPHA:244242
HP:0430135	Abnormal circulating hepatic transaminase concentration	101101692	HELLPAR	ORPHA:244242
HP:0430135	Abnormal circulating hepatic transaminase concentration	51473	DCDC2	ORPHA:84081
HP:0430135	Abnormal circulating hepatic transaminase concentration	2998	GYS2	ORPHA:2089
HP:0430135	Abnormal circulating hepatic transaminase concentration	51703	ACSL5	OMIM:620357
HP:0430135	Abnormal circulating hepatic transaminase concentration	100506658	OCLN	OMIM:251290
HP:0430135	Abnormal circulating hepatic transaminase concentration	3033	HADH	ORPHA:71212
HP:0430135	Abnormal circulating hepatic transaminase concentration	3030	HADHA	OMIM:609015
HP:0430135	Abnormal circulating hepatic transaminase concentration	27232	GNMT	OMIM:606664
HP:0430135	Abnormal circulating hepatic transaminase concentration	64240	ABCG5	ORPHA:2882
HP:0430135	Abnormal circulating hepatic transaminase concentration	64241	ABCG8	ORPHA:2882
HP:0430135	Abnormal circulating hepatic transaminase concentration	617	BCS1L	OMIM:124000
HP:0430135	Abnormal circulating hepatic transaminase concentration	2273	FHL1	OMIM:300280
HP:0430135	Abnormal circulating hepatic transaminase concentration	51	ACOX1	OMIM:264470
HP:0430135	Abnormal circulating hepatic transaminase concentration	1650	DDOST	ORPHA:300536
HP:0430135	Abnormal circulating hepatic transaminase concentration	2819	GPD1	OMIM:614480
HP:0430135	Abnormal circulating hepatic transaminase concentration	1537	CYC1	OMIM:615453
HP:0430135	Abnormal circulating hepatic transaminase concentration	2193	FARSA	OMIM:619013
HP:0430135	Abnormal circulating hepatic transaminase concentration	178	AGL	OMIM:232400
HP:0430135	Abnormal circulating hepatic transaminase concentration	51099	ABHD5	ORPHA:98907
HP:0430135	Abnormal circulating hepatic transaminase concentration	131118	DNAJC19	ORPHA:66634
HP:0430135	Abnormal circulating hepatic transaminase concentration	5236	PGM1	OMIM:614921
HP:0430135	Abnormal circulating hepatic transaminase concentration	5557	PRIM1	OMIM:620005
HP:0430135	Abnormal circulating hepatic transaminase concentration	3295	HSD17B4	OMIM:261515
HP:0430135	Abnormal circulating hepatic transaminase concentration	10020	GNE	ORPHA:3166
HP:0430135	Abnormal circulating hepatic transaminase concentration	8481	OFD1	ORPHA:2750
HP:0430135	Abnormal circulating hepatic transaminase concentration	9451	EIF2AK3	ORPHA:1667
HP:0430135	Abnormal circulating hepatic transaminase concentration	37	ACADVL	ORPHA:26793
HP:0430135	Abnormal circulating hepatic transaminase concentration	4627	MYH9	ORPHA:182050
HP:0430135	Abnormal circulating hepatic transaminase concentration	90523	MLIP	OMIM:620138
HP:0430135	Abnormal circulating hepatic transaminase concentration	5696	PSMB8	OMIM:256040
HP:0430135	Abnormal circulating hepatic transaminase concentration	22909	FAN1	OMIM:614817
HP:0430135	Abnormal circulating hepatic transaminase concentration	29929	ALG6	OMIM:603147
HP:0430135	Abnormal circulating hepatic transaminase concentration	286053	NSMCE2	OMIM:617253
HP:0430135	Abnormal circulating hepatic transaminase concentration	4952	OCRL	OMIM:300555
HP:0430135	Abnormal circulating hepatic transaminase concentration	8482	SEMA7A	OMIM:619874
HP:0430135	Abnormal circulating hepatic transaminase concentration	57128	LYRM4	OMIM:615595
HP:0430135	Abnormal circulating hepatic transaminase concentration	2629	GBA1	ORPHA:85212
HP:0430135	Abnormal circulating hepatic transaminase concentration	65080	MRPL44	OMIM:615395
HP:0430135	Abnormal circulating hepatic transaminase concentration	570	BAAT	OMIM:619232
HP:0430135	Abnormal circulating hepatic transaminase concentration	11222	MRPL3	OMIM:614582
HP:0430135	Abnormal circulating hepatic transaminase concentration	7381	UQCRB	OMIM:615158
HP:0430135	Abnormal circulating hepatic transaminase concentration	5580	PRKCD	OMIM:615559
HP:0430135	Abnormal circulating hepatic transaminase concentration	5828	PEX2	OMIM:614866
HP:0430135	Abnormal circulating hepatic transaminase concentration	338	APOB	OMIM:615558
HP:0430135	Abnormal circulating hepatic transaminase concentration	3032	HADHB	OMIM:620300
HP:0430135	Abnormal circulating hepatic transaminase concentration	9420	CYP7B1	OMIM:613812
HP:0430135	Abnormal circulating hepatic transaminase concentration	9420	CYP7B1	ORPHA:79302
HP:0430135	Abnormal circulating hepatic transaminase concentration	6609	SMPD1	OMIM:257200
HP:0430135	Abnormal circulating hepatic transaminase concentration	123264	SLC51B	OMIM:619481
HP:0430135	Abnormal circulating hepatic transaminase concentration	197131	UBR1	OMIM:243800
HP:0430135	Abnormal circulating hepatic transaminase concentration	55610	VPS50	OMIM:619685
HP:0430135	Abnormal circulating hepatic transaminase concentration	7504	XK	OMIM:300842
HP:0430135	Abnormal circulating hepatic transaminase concentration	6514	SLC2A2	OMIM:227810
HP:0430135	Abnormal circulating hepatic transaminase concentration	6514	SLC2A2	ORPHA:2088
HP:0430135	Abnormal circulating hepatic transaminase concentration	6341	SCO1	OMIM:619048
HP:0430135	Abnormal circulating hepatic transaminase concentration	4141	MARS1	OMIM:615486
HP:0430135	Abnormal circulating hepatic transaminase concentration	54931	TRMT10C	OMIM:616974
HP:0430135	Abnormal circulating hepatic transaminase concentration	5184	PEPD	OMIM:170100
HP:0430135	Abnormal circulating hepatic transaminase concentration	8309	ACOX2	OMIM:617308
HP:0430135	Abnormal circulating hepatic transaminase concentration	9409	PEX16	OMIM:614876
HP:0430135	Abnormal circulating hepatic transaminase concentration	7486	WRN	OMIM:277700
HP:0430135	Abnormal circulating hepatic transaminase concentration	5698	PSMB9	OMIM:620796
HP:0430135	Abnormal circulating hepatic transaminase concentration	79989	IFT56	OMIM:619534
HP:0430135	Abnormal circulating hepatic transaminase concentration	51116	MRPS2	OMIM:617950
HP:0430135	Abnormal circulating hepatic transaminase concentration	9215	LARGE1	OMIM:613154
HP:0430135	Abnormal circulating hepatic transaminase concentration	50619	DEF6	OMIM:619573
HP:0430135	Abnormal circulating hepatic transaminase concentration	348	APOE	OMIM:269600
HP:0430135	Abnormal circulating hepatic transaminase concentration	3988	LIPA	OMIM:278000
HP:0430135	Abnormal circulating hepatic transaminase concentration	9487	PIGL	OMIM:280000
HP:0430135	Abnormal circulating hepatic transaminase concentration	859	CAV3	OMIM:614321
HP:0430135	Abnormal circulating hepatic transaminase concentration	6240	RRM1	OMIM:620647
HP:0430135	Abnormal circulating hepatic transaminase concentration	54532	USP53	OMIM:619658
HP:0430135	Abnormal circulating hepatic transaminase concentration	5195	PEX14	OMIM:614887
HP:0430135	Abnormal circulating hepatic transaminase concentration	55858	TMEM165	OMIM:614727
HP:0430135	Abnormal circulating hepatic transaminase concentration	7841	MOGS	OMIM:606056
HP:0430135	Abnormal circulating hepatic transaminase concentration	124454	EARS2	OMIM:614924
HP:0430135	Abnormal circulating hepatic transaminase concentration	1807	DPYS	OMIM:222748
HP:0430135	Abnormal circulating hepatic transaminase concentration	4000	LMNA	OMIM:151660
HP:0430135	Abnormal circulating hepatic transaminase concentration	64121	RRAGC	OMIM:620609
HP:0430135	Abnormal circulating hepatic transaminase concentration	9054	NFS1	OMIM:619386
HP:0430135	Abnormal circulating hepatic transaminase concentration	113220	KIF12	OMIM:619662
HP:0430135	Abnormal circulating hepatic transaminase concentration	1794	DOCK2	OMIM:616433
HP:0430135	Abnormal circulating hepatic transaminase concentration	23230	VPS13A	ORPHA:2388
HP:0430135	Abnormal circulating hepatic transaminase concentration	4645	MYO5B	OMIM:619868
HP:0430135	Abnormal circulating hepatic transaminase concentration	6811	STX5	OMIM:620454
HP:0430135	Abnormal circulating hepatic transaminase concentration	3156	HMGCR	OMIM:620375
HP:0430135	Abnormal circulating hepatic transaminase concentration	4067	LYN	OMIM:620376
HP:0430135	Abnormal circulating hepatic transaminase concentration	6309	SC5D	OMIM:607330
HP:0430135	Abnormal circulating hepatic transaminase concentration	23019	CNOT1	OMIM:618500
HP:0430135	Abnormal circulating hepatic transaminase concentration	132	ADK	OMIM:614300
HP:0430135	Abnormal circulating hepatic transaminase concentration	5314	PKHD1	ORPHA:53035
HP:0430135	Abnormal circulating hepatic transaminase concentration	2548	GAA	ORPHA:308552
HP:0430135	Abnormal circulating hepatic transaminase concentration	226	ALDOA	OMIM:611881
HP:0430135	Abnormal circulating hepatic transaminase concentration	5105	PCK1	OMIM:261680
HP:0430135	Abnormal circulating hepatic transaminase concentration	26007	TKFC	OMIM:618805
HP:0430135	Abnormal circulating hepatic transaminase concentration	8772	FADD	OMIM:613759
HP:0430135	Abnormal circulating hepatic transaminase concentration	587	BCAT2	OMIM:618850
HP:0430135	Abnormal circulating hepatic transaminase concentration	6773	STAT2	OMIM:616636
HP:0033754	Abnormal left ventricular end-diastolic volume	1756	DMD	OMIM:302045
HP:0033754	Abnormal left ventricular end-diastolic volume	1410	CRYAB	OMIM:615184
HP:0033754	Abnormal left ventricular end-diastolic volume	7137	TNNI3	OMIM:613286
HP:0033754	Abnormal left ventricular end-diastolic volume	7137	TNNI3	OMIM:611880
HP:0033754	Abnormal left ventricular end-diastolic volume	4607	MYBPC3	OMIM:615396
HP:0033754	Abnormal left ventricular end-diastolic volume	4624	MYH6	OMIM:613252
HP:0033754	Abnormal left ventricular end-diastolic volume	84665	MYPN	OMIM:615248
HP:0033754	Abnormal left ventricular end-diastolic volume	91624	NEXN	OMIM:613122
HP:0033754	Abnormal left ventricular end-diastolic volume	9531	BAG3	OMIM:613881
HP:0033754	Abnormal left ventricular end-diastolic volume	5663	PSEN1	OMIM:613694
HP:0033754	Abnormal left ventricular end-diastolic volume	5664	PSEN2	OMIM:613697
HP:0033754	Abnormal left ventricular end-diastolic volume	70	ACTC1	OMIM:613424
HP:0033754	Abnormal left ventricular end-diastolic volume	9529	BAG5	OMIM:619747
HP:0033754	Abnormal left ventricular end-diastolic volume	6901	TAFAZZIN	OMIM:302060
HP:0033754	Abnormal left ventricular end-diastolic volume	5894	RAF1	OMIM:615916
HP:0033754	Abnormal left ventricular end-diastolic volume	1829	DSG2	OMIM:612877
HP:0033754	Abnormal left ventricular end-diastolic volume	2218	FKTN	OMIM:611615
HP:0033754	Abnormal left ventricular end-diastolic volume	171019	ADAMTS19	OMIM:620067
HP:0033754	Abnormal left ventricular end-diastolic volume	7168	TPM1	OMIM:611878
HP:0033754	Abnormal left ventricular end-diastolic volume	6444	SGCD	OMIM:606685
HP:0033754	Abnormal left ventricular end-diastolic volume	11155	LDB3	OMIM:601493
HP:0033754	Abnormal left ventricular end-diastolic volume	7139	TNNT2	OMIM:601494
HP:0033754	Abnormal left ventricular end-diastolic volume	7414	VCL	OMIM:611407
HP:0033754	Abnormal left ventricular end-diastolic volume	8048	CSRP3	OMIM:607482
HP:0033755	Increased left ventricular end-diastolic volume	1756	DMD	OMIM:302045
HP:0033755	Increased left ventricular end-diastolic volume	1410	CRYAB	OMIM:615184
HP:0033755	Increased left ventricular end-diastolic volume	7137	TNNI3	OMIM:613286
HP:0033755	Increased left ventricular end-diastolic volume	7137	TNNI3	OMIM:611880
HP:0033755	Increased left ventricular end-diastolic volume	4607	MYBPC3	OMIM:615396
HP:0033755	Increased left ventricular end-diastolic volume	4624	MYH6	OMIM:613252
HP:0033755	Increased left ventricular end-diastolic volume	84665	MYPN	OMIM:615248
HP:0033755	Increased left ventricular end-diastolic volume	91624	NEXN	OMIM:613122
HP:0033755	Increased left ventricular end-diastolic volume	9531	BAG3	OMIM:613881
HP:0033755	Increased left ventricular end-diastolic volume	5663	PSEN1	OMIM:613694
HP:0033755	Increased left ventricular end-diastolic volume	5664	PSEN2	OMIM:613697
HP:0033755	Increased left ventricular end-diastolic volume	70	ACTC1	OMIM:613424
HP:0033755	Increased left ventricular end-diastolic volume	9529	BAG5	OMIM:619747
HP:0033755	Increased left ventricular end-diastolic volume	6901	TAFAZZIN	OMIM:302060
HP:0033755	Increased left ventricular end-diastolic volume	5894	RAF1	OMIM:615916
HP:0033755	Increased left ventricular end-diastolic volume	1829	DSG2	OMIM:612877
HP:0033755	Increased left ventricular end-diastolic volume	2218	FKTN	OMIM:611615
HP:0033755	Increased left ventricular end-diastolic volume	171019	ADAMTS19	OMIM:620067
HP:0033755	Increased left ventricular end-diastolic volume	7168	TPM1	OMIM:611878
HP:0033755	Increased left ventricular end-diastolic volume	6444	SGCD	OMIM:606685
HP:0033755	Increased left ventricular end-diastolic volume	11155	LDB3	OMIM:601493
HP:0033755	Increased left ventricular end-diastolic volume	7139	TNNT2	OMIM:601494
HP:0033755	Increased left ventricular end-diastolic volume	7414	VCL	OMIM:611407
HP:0033755	Increased left ventricular end-diastolic volume	8048	CSRP3	OMIM:607482
HP:0033757	Pancreatic steatosis	134218	DNAJC21	OMIM:617052
HP:0025201	Abnormal circulating apolipoprotein concentration	4547	MTTP	ORPHA:14
HP:0025201	Abnormal circulating apolipoprotein concentration	23545	ATP6V0A2	ORPHA:357074
HP:0025201	Abnormal circulating apolipoprotein concentration	523	ATP6V1A	ORPHA:357074
HP:0025201	Abnormal circulating apolipoprotein concentration	529	ATP6V1E1	ORPHA:357074
HP:0025201	Abnormal circulating apolipoprotein concentration	4023	LPL	OMIM:144250
HP:0025201	Abnormal circulating apolipoprotein concentration	335	APOA1	OMIM:619836
HP:0025201	Abnormal circulating apolipoprotein concentration	335	APOA1	OMIM:620657
HP:0025201	Abnormal circulating apolipoprotein concentration	19	ABCA1	OMIM:205400
HP:0025201	Abnormal circulating apolipoprotein concentration	344	APOC2	OMIM:207750
HP:0025201	Abnormal circulating apolipoprotein concentration	22948	CCT5	OMIM:256840
HP:0033759	Impaired renal tubular reabsorption of magnesium	54805	CNNM2	OMIM:613882
HP:0007627	Mandibular condyle aplasia	5332	PLCB4	OMIM:614669
HP:0007627	Mandibular condyle aplasia	5332	PLCB4	ORPHA:137888
HP:0007627	Mandibular condyle aplasia	1906	EDN1	ORPHA:137888
HP:0007627	Mandibular condyle aplasia	2773	GNAI3	ORPHA:137888
HP:0007627	Mandibular condyle aplasia	2773	GNAI3	OMIM:602483
HP:0007628	Mandibular condyle hypoplasia	5332	PLCB4	OMIM:620458
HP:0007628	Mandibular condyle hypoplasia	5332	PLCB4	OMIM:614669
HP:0007628	Mandibular condyle hypoplasia	5332	PLCB4	ORPHA:137888
HP:0007628	Mandibular condyle hypoplasia	1906	EDN1	ORPHA:137888
HP:0007628	Mandibular condyle hypoplasia	2773	GNAI3	ORPHA:137888
HP:0007628	Mandibular condyle hypoplasia	2773	GNAI3	OMIM:602483
HP:0001557	Prenatal movement abnormality	501	ALDH7A1	OMIM:266100
HP:0001557	Prenatal movement abnormality	501	ALDH7A1	ORPHA:3006
HP:0001557	Prenatal movement abnormality	23476	BRD4	ORPHA:199
HP:0001557	Prenatal movement abnormality	9126	SMC3	ORPHA:199
HP:0001557	Prenatal movement abnormality	8243	SMC1A	ORPHA:199
HP:0001557	Prenatal movement abnormality	6878	TAF6	ORPHA:199
HP:0001557	Prenatal movement abnormality	25836	NIPBL	ORPHA:199
HP:0001557	Prenatal movement abnormality	55869	HDAC8	ORPHA:199
HP:0001557	Prenatal movement abnormality	5885	RAD21	ORPHA:199
HP:0001557	Prenatal movement abnormality	4621	MYH3	ORPHA:2053
HP:0001557	Prenatal movement abnormality	259232	NALCN	ORPHA:2053
HP:0001557	Prenatal movement abnormality	3339	HSPG2	ORPHA:800
HP:0001557	Prenatal movement abnormality	11212	PLPBP	ORPHA:3006
HP:0001557	Prenatal movement abnormality	58	ACTA1	ORPHA:97240
HP:0001557	Prenatal movement abnormality	58	ACTA1	ORPHA:171433
HP:0001557	Prenatal movement abnormality	58	ACTA1	ORPHA:171430
HP:0001557	Prenatal movement abnormality	58	ACTA1	OMIM:620278
HP:0001557	Prenatal movement abnormality	58	ACTA1	ORPHA:2020
HP:0001557	Prenatal movement abnormality	58	ACTA1	OMIM:161800
HP:0001557	Prenatal movement abnormality	2261	FGFR3	OMIM:187601
HP:0001557	Prenatal movement abnormality	2261	FGFR3	OMIM:187600
HP:0001557	Prenatal movement abnormality	4359	MPZ	OMIM:618184
HP:0001557	Prenatal movement abnormality	1145	CHRNE	OMIM:608931
HP:0001557	Prenatal movement abnormality	2673	GFPT1	OMIM:608931
HP:0001557	Prenatal movement abnormality	27238	GPKOW	ORPHA:2570
HP:0001557	Prenatal movement abnormality	199857	ALG14	OMIM:619036
HP:0001557	Prenatal movement abnormality	29925	GMPPB	OMIM:615350
HP:0001557	Prenatal movement abnormality	29925	GMPPB	OMIM:615351
HP:0001557	Prenatal movement abnormality	5351	PLOD1	OMIM:225400
HP:0001557	Prenatal movement abnormality	56896	DPYSL5	OMIM:619435
HP:0001557	Prenatal movement abnormality	1144	CHRND	OMIM:616322
HP:0001557	Prenatal movement abnormality	8506	CNTNAP1	OMIM:618186
HP:0001557	Prenatal movement abnormality	8506	CNTNAP1	OMIM:616286
HP:0001557	Prenatal movement abnormality	5393	EXOSC9	OMIM:618065
HP:0001557	Prenatal movement abnormality	112	ADCY6	OMIM:616287
HP:0001557	Prenatal movement abnormality	4000	LMNA	OMIM:619793
HP:0001557	Prenatal movement abnormality	4000	LMNA	ORPHA:157973
HP:0001557	Prenatal movement abnormality	4000	LMNA	ORPHA:1662
HP:0001557	Prenatal movement abnormality	4000	LMNA	OMIM:613205
HP:0001557	Prenatal movement abnormality	23345	SYNE1	ORPHA:88644
HP:0001557	Prenatal movement abnormality	23345	SYNE1	OMIM:618484
HP:0001557	Prenatal movement abnormality	23345	SYNE1	ORPHA:319332
HP:0001557	Prenatal movement abnormality	56203	LMOD3	OMIM:616165
HP:0001557	Prenatal movement abnormality	56203	LMOD3	ORPHA:171430
HP:0001557	Prenatal movement abnormality	5913	RAPSN	OMIM:616326
HP:0001557	Prenatal movement abnormality	5913	RAPSN	OMIM:618388
HP:0001557	Prenatal movement abnormality	2632	GBE1	OMIM:232500
HP:0001557	Prenatal movement abnormality	51126	NAA20	OMIM:619717
HP:0001557	Prenatal movement abnormality	10059	DNM1L	OMIM:614388
HP:0001557	Prenatal movement abnormality	1355	COX15	OMIM:615119
HP:0001557	Prenatal movement abnormality	145173	B3GLCT	ORPHA:709
HP:0001557	Prenatal movement abnormality	79796	ALG9	OMIM:608776
HP:0001557	Prenatal movement abnormality	79796	ALG9	ORPHA:79328
HP:0001557	Prenatal movement abnormality	4703	NEB	OMIM:256030
HP:0001557	Prenatal movement abnormality	4703	NEB	ORPHA:171433
HP:0001557	Prenatal movement abnormality	4703	NEB	ORPHA:171430
HP:0001557	Prenatal movement abnormality	4703	NEB	OMIM:619334
HP:0001557	Prenatal movement abnormality	10102	TSFM	OMIM:610505
HP:0001557	Prenatal movement abnormality	274	BIN1	ORPHA:169189
HP:0001557	Prenatal movement abnormality	274	BIN1	OMIM:255200
HP:0001557	Prenatal movement abnormality	64419	MTMR14	ORPHA:169189
HP:0001557	Prenatal movement abnormality	4618	MYF6	ORPHA:169189
HP:0001557	Prenatal movement abnormality	1785	DNM2	ORPHA:169189
HP:0001557	Prenatal movement abnormality	1785	DNM2	OMIM:615368
HP:0001557	Prenatal movement abnormality	6261	RYR1	ORPHA:169189
HP:0001557	Prenatal movement abnormality	6261	RYR1	OMIM:255320
HP:0001557	Prenatal movement abnormality	6261	RYR1	ORPHA:98905
HP:0001557	Prenatal movement abnormality	6261	RYR1	OMIM:619542
HP:0001557	Prenatal movement abnormality	2629	GBA1	OMIM:608013
HP:0001557	Prenatal movement abnormality	2629	GBA1	ORPHA:85212
HP:0001557	Prenatal movement abnormality	100033413	SNORD116-1	OMIM:176270
HP:0001557	Prenatal movement abnormality	8924	HERC2	OMIM:176270
HP:0001557	Prenatal movement abnormality	23742	NPAP1	OMIM:176270
HP:0001557	Prenatal movement abnormality	338433	SNORD115-1	OMIM:176270
HP:0001557	Prenatal movement abnormality	54551	MAGEL2	OMIM:176270
HP:0001557	Prenatal movement abnormality	54551	MAGEL2	ORPHA:177904
HP:0001557	Prenatal movement abnormality	54551	MAGEL2	ORPHA:177901
HP:0001557	Prenatal movement abnormality	54551	MAGEL2	ORPHA:398069
HP:0001557	Prenatal movement abnormality	54551	MAGEL2	ORPHA:177910
HP:0001557	Prenatal movement abnormality	54551	MAGEL2	OMIM:615547
HP:0001557	Prenatal movement abnormality	54551	MAGEL2	ORPHA:98754
HP:0001557	Prenatal movement abnormality	7681	MKRN3	OMIM:176270
HP:0001557	Prenatal movement abnormality	145624	PWAR1	OMIM:176270
HP:0001557	Prenatal movement abnormality	3653	IPW	OMIM:176270
HP:0001557	Prenatal movement abnormality	791114	PWRN1	OMIM:176270
HP:0001557	Prenatal movement abnormality	1303	COL12A1	ORPHA:75840
HP:0001557	Prenatal movement abnormality	1291	COL6A1	ORPHA:75840
HP:0001557	Prenatal movement abnormality	1291	COL6A1	OMIM:158810
HP:0001557	Prenatal movement abnormality	1292	COL6A2	ORPHA:75840
HP:0001557	Prenatal movement abnormality	1292	COL6A2	OMIM:620727
HP:0001557	Prenatal movement abnormality	1293	COL6A3	ORPHA:75840
HP:0001557	Prenatal movement abnormality	59341	TRPV4	OMIM:156530
HP:0001557	Prenatal movement abnormality	59341	TRPV4	OMIM:600175
HP:0001557	Prenatal movement abnormality	3481	IGF2	ORPHA:231144
HP:0001557	Prenatal movement abnormality	283120	H19	ORPHA:231144
HP:0001557	Prenatal movement abnormality	2073	ERCC5	OMIM:616570
HP:0001557	Prenatal movement abnormality	23114	NFASC	OMIM:618356
HP:0001557	Prenatal movement abnormality	9578	CDC42BPB	OMIM:619841
HP:0001557	Prenatal movement abnormality	10324	KLHL41	ORPHA:171433
HP:0001557	Prenatal movement abnormality	10324	KLHL41	ORPHA:171430
HP:0001557	Prenatal movement abnormality	7170	TPM3	ORPHA:171433
HP:0001557	Prenatal movement abnormality	7170	TPM3	ORPHA:2020
HP:0001557	Prenatal movement abnormality	7170	TPM3	OMIM:255310
HP:0001557	Prenatal movement abnormality	51741	WWOX	OMIM:616211
HP:0001557	Prenatal movement abnormality	51741	WWOX	ORPHA:442835
HP:0001557	Prenatal movement abnormality	131377	KLHL40	ORPHA:171430
HP:0001557	Prenatal movement abnormality	131377	KLHL40	OMIM:615348
HP:0001557	Prenatal movement abnormality	4649	MYO9A	OMIM:618198
HP:0001557	Prenatal movement abnormality	4649	MYO9A	ORPHA:98914
HP:0001557	Prenatal movement abnormality	6616	SNAP25	OMIM:616330
HP:0001557	Prenatal movement abnormality	6616	SNAP25	ORPHA:98914
HP:0001557	Prenatal movement abnormality	84466	MEGF10	OMIM:614399
HP:0001557	Prenatal movement abnormality	1763	DNA2	ORPHA:352470
HP:0001557	Prenatal movement abnormality	2314	FLII	ORPHA:819
HP:0001557	Prenatal movement abnormality	23096	IQSEC2	ORPHA:819
HP:0001557	Prenatal movement abnormality	10743	RAI1	ORPHA:819
HP:0001557	Prenatal movement abnormality	10522	DEAF1	ORPHA:819
HP:0001557	Prenatal movement abnormality	55033	FKBP14	OMIM:614557
HP:0001557	Prenatal movement abnormality	9200	HACD1	OMIM:619967
HP:0001557	Prenatal movement abnormality	9200	HACD1	ORPHA:2020
HP:0001557	Prenatal movement abnormality	3508	IGHMBP2	OMIM:604320
HP:0001557	Prenatal movement abnormality	5979	RET	ORPHA:99803
HP:0001557	Prenatal movement abnormality	429	ASCL1	ORPHA:99803
HP:0001557	Prenatal movement abnormality	8929	PHOX2B	ORPHA:99803
HP:0001557	Prenatal movement abnormality	10073	SNUPN	OMIM:620793
HP:0001557	Prenatal movement abnormality	1760	DMPK	OMIM:160900
HP:0001557	Prenatal movement abnormality	1760	DMPK	ORPHA:589821
HP:0001557	Prenatal movement abnormality	7125	TNNC2	OMIM:620161
HP:0001557	Prenatal movement abnormality	284403	WDR62	OMIM:604317
HP:0001557	Prenatal movement abnormality	1146	CHRNG	OMIM:265000
HP:0001557	Prenatal movement abnormality	6638	SNRPN	ORPHA:177904
HP:0001557	Prenatal movement abnormality	6638	SNRPN	ORPHA:177901
HP:0001557	Prenatal movement abnormality	6638	SNRPN	ORPHA:177910
HP:0001557	Prenatal movement abnormality	6638	SNRPN	ORPHA:98754
HP:0001557	Prenatal movement abnormality	4692	NDN	ORPHA:177904
HP:0001557	Prenatal movement abnormality	4692	NDN	ORPHA:177901
HP:0001557	Prenatal movement abnormality	4692	NDN	ORPHA:177910
HP:0001557	Prenatal movement abnormality	4692	NDN	ORPHA:98754
HP:0001557	Prenatal movement abnormality	4948	OCA2	ORPHA:177904
HP:0001557	Prenatal movement abnormality	4948	OCA2	ORPHA:177901
HP:0001557	Prenatal movement abnormality	4948	OCA2	ORPHA:98754
HP:0001557	Prenatal movement abnormality	64324	NSD1	OMIM:117550
HP:0001557	Prenatal movement abnormality	55906	ZC4H2	OMIM:314580
HP:0001557	Prenatal movement abnormality	8260	NAA10	OMIM:300855
HP:0001557	Prenatal movement abnormality	146862	UNC45B	OMIM:619178
HP:0001557	Prenatal movement abnormality	1272	CNTN1	OMIM:612540
HP:0001557	Prenatal movement abnormality	23511	NUP188	OMIM:618804
HP:0001557	Prenatal movement abnormality	1147	CHUK	OMIM:613630
HP:0001557	Prenatal movement abnormality	27315	PGAP2	OMIM:614207
HP:0001557	Prenatal movement abnormality	55681	SCYL2	OMIM:618766
HP:0001557	Prenatal movement abnormality	55681	SCYL2	ORPHA:1143
HP:0001557	Prenatal movement abnormality	93627	TBCK	OMIM:616900
HP:0001557	Prenatal movement abnormality	51008	ASCC1	OMIM:616867
HP:0001557	Prenatal movement abnormality	57211	ADGRG6	OMIM:616503
HP:0001557	Prenatal movement abnormality	9325	TRIP4	OMIM:616866
HP:0001557	Prenatal movement abnormality	9570	GOSR2	OMIM:620166
HP:0001557	Prenatal movement abnormality	6606	SMN1	OMIM:253300
HP:0001557	Prenatal movement abnormality	1717	DHCR7	OMIM:270400
HP:0001557	Prenatal movement abnormality	10815	CPLX1	ORPHA:280
HP:0001557	Prenatal movement abnormality	10815	CPLX1	OMIM:194190
HP:0001557	Prenatal movement abnormality	54872	PIGG	ORPHA:280
HP:0001557	Prenatal movement abnormality	7469	NELFA	ORPHA:280
HP:0001557	Prenatal movement abnormality	1487	CTBP1	ORPHA:280
HP:0001557	Prenatal movement abnormality	1487	CTBP1	OMIM:194190
HP:0001557	Prenatal movement abnormality	3954	LETM1	ORPHA:280
HP:0001557	Prenatal movement abnormality	3954	LETM1	OMIM:194190
HP:0001557	Prenatal movement abnormality	7468	NSD2	ORPHA:280
HP:0001557	Prenatal movement abnormality	7468	NSD2	OMIM:194190
HP:0001557	Prenatal movement abnormality	57190	SELENON	ORPHA:2020
HP:0001557	Prenatal movement abnormality	4633	MYL2	ORPHA:2020
HP:0001557	Prenatal movement abnormality	3679	ITGA7	ORPHA:2020
HP:0001557	Prenatal movement abnormality	7169	TPM2	ORPHA:2020
HP:0001557	Prenatal movement abnormality	51776	MAP3K20	ORPHA:2020
HP:0001557	Prenatal movement abnormality	51651	PTRH2	ORPHA:456312
HP:0001557	Prenatal movement abnormality	51651	PTRH2	OMIM:616263
HP:0001557	Prenatal movement abnormality	2906	GRIN2D	OMIM:617162
HP:0001557	Prenatal movement abnormality	2906	GRIN2D	ORPHA:442835
HP:0001557	Prenatal movement abnormality	7317	UBA1	OMIM:301830
HP:0001557	Prenatal movement abnormality	127833	SYT2	OMIM:619461
HP:0001557	Prenatal movement abnormality	127833	SYT2	ORPHA:98914
HP:0001557	Prenatal movement abnormality	3560	IL2RB	OMIM:618495
HP:0001557	Prenatal movement abnormality	6885	MAP3K7	OMIM:157800
HP:0001557	Prenatal movement abnormality	4613	MYCN	OMIM:164280
HP:0001557	Prenatal movement abnormality	2783	GNB2	OMIM:619503
HP:0001557	Prenatal movement abnormality	4632	MYL1	OMIM:618414
HP:0001557	Prenatal movement abnormality	3737	KCNA2	ORPHA:442835
HP:0001557	Prenatal movement abnormality	1759	DNM1	ORPHA:442835
HP:0001557	Prenatal movement abnormality	8120	AP3B2	ORPHA:442835
HP:0001557	Prenatal movement abnormality	523	ATP6V1A	ORPHA:442835
HP:0001557	Prenatal movement abnormality	10991	SLC38A3	ORPHA:442835
HP:0001557	Prenatal movement abnormality	51343	FZR1	ORPHA:442835
HP:0001557	Prenatal movement abnormality	3747	KCNC2	ORPHA:442835
HP:0001557	Prenatal movement abnormality	1917	EEF1A2	ORPHA:442835
HP:0001557	Prenatal movement abnormality	23219	FBXO28	ORPHA:442835
HP:0001557	Prenatal movement abnormality	23219	FBXO28	OMIM:619777
HP:0001557	Prenatal movement abnormality	2561	GABRB2	ORPHA:442835
HP:0001557	Prenatal movement abnormality	8831	SYNGAP1	ORPHA:442835
HP:0001557	Prenatal movement abnormality	2558	GABRA5	ORPHA:442835
HP:0001557	Prenatal movement abnormality	116150	NUS1	ORPHA:442835
HP:0001557	Prenatal movement abnormality	1213	CLTC	ORPHA:442835
HP:0001557	Prenatal movement abnormality	23334	SZT2	ORPHA:442835
HP:0001557	Prenatal movement abnormality	348980	HCN1	ORPHA:442835
HP:0001557	Prenatal movement abnormality	25977	NECAP1	ORPHA:442835
HP:0001557	Prenatal movement abnormality	25977	NECAP1	OMIM:615833
HP:0001557	Prenatal movement abnormality	23241	PACS2	ORPHA:442835
HP:0001557	Prenatal movement abnormality	16	AARS1	ORPHA:442835
HP:0001557	Prenatal movement abnormality	6334	SCN8A	ORPHA:442835
HP:0001557	Prenatal movement abnormality	9568	GABBR2	ORPHA:442835
HP:0001557	Prenatal movement abnormality	2555	GABRA2	ORPHA:442835
HP:0001557	Prenatal movement abnormality	55152	DALRD3	ORPHA:442835
HP:0001557	Prenatal movement abnormality	26999	CYFIP2	ORPHA:442835
HP:0001557	Prenatal movement abnormality	4915	NTRK2	ORPHA:442835
HP:0001557	Prenatal movement abnormality	25973	PARS2	ORPHA:442835
HP:0001557	Prenatal movement abnormality	23097	CDK19	ORPHA:442835
HP:0001557	Prenatal movement abnormality	2257	FGF12	ORPHA:442835
HP:0001557	Prenatal movement abnormality	5530	PPP3CA	ORPHA:442835
HP:0001557	Prenatal movement abnormality	478	ATP1A3	ORPHA:442835
HP:0001557	Prenatal movement abnormality	22906	TRAK1	ORPHA:442835
HP:0001557	Prenatal movement abnormality	2566	GABRG2	ORPHA:442835
HP:0001557	Prenatal movement abnormality	7532	YWHAG	ORPHA:442835
HP:0001557	Prenatal movement abnormality	79876	UBA5	ORPHA:442835
HP:0001557	Prenatal movement abnormality	6328	SCN3A	ORPHA:442835
HP:0001557	Prenatal movement abnormality	781	CACNA2D1	ORPHA:442835
HP:0001557	Prenatal movement abnormality	10659	CELF2	ORPHA:442835
HP:0001557	Prenatal movement abnormality	774	CACNA1B	ORPHA:442835
HP:0001557	Prenatal movement abnormality	51412	ACTL6B	ORPHA:442835
HP:0001557	Prenatal movement abnormality	2290	FOXG1	ORPHA:442835
HP:0001557	Prenatal movement abnormality	6506	SLC1A2	ORPHA:442835
HP:0001557	Prenatal movement abnormality	8867	SYNJ1	ORPHA:442835
HP:0001557	Prenatal movement abnormality	477	ATP1A2	ORPHA:442835
HP:0001557	Prenatal movement abnormality	3745	KCNB1	ORPHA:442835
HP:0001557	Prenatal movement abnormality	284111	SLC13A5	ORPHA:442835
HP:0001557	Prenatal movement abnormality	22866	CNKSR2	ORPHA:442835
HP:0001557	Prenatal movement abnormality	773	CACNA1A	ORPHA:442835
HP:0001557	Prenatal movement abnormality	6323	SCN1A	ORPHA:442835
HP:0001557	Prenatal movement abnormality	79947	DHDDS	ORPHA:442835
HP:0001557	Prenatal movement abnormality	79053	ALG8	OMIM:608104
HP:0001557	Prenatal movement abnormality	53834	FGFRL1	OMIM:194190
HP:0001557	Prenatal movement abnormality	57572	DOCK6	OMIM:614219
HP:0001557	Prenatal movement abnormality	60386	SLC25A19	ORPHA:99742
HP:0001557	Prenatal movement abnormality	26227	PHGDH	OMIM:256520
HP:0001557	Prenatal movement abnormality	4534	MTM1	ORPHA:596
HP:0001557	Prenatal movement abnormality	4534	MTM1	OMIM:310400
HP:0001557	Prenatal movement abnormality	4953	ODC1	OMIM:619075
HP:0001557	Prenatal movement abnormality	1798	DPAGT1	ORPHA:86309
HP:0001557	Prenatal movement abnormality	23299	BICD2	ORPHA:363454
HP:0001557	Prenatal movement abnormality	23299	BICD2	OMIM:618291
HP:0001557	Prenatal movement abnormality	253738	EBF3	OMIM:617330
HP:0001557	Prenatal movement abnormality	7874	USP7	ORPHA:500055
HP:0001557	Prenatal movement abnormality	57003	CCDC47	OMIM:618268
HP:0001557	Prenatal movement abnormality	157680	VPS13B	ORPHA:193
HP:0001557	Prenatal movement abnormality	4593	MUSK	OMIM:208150
HP:0001557	Prenatal movement abnormality	100128927	ZBTB42	OMIM:616248
HP:0001557	Prenatal movement abnormality	9453	GGPS1	OMIM:619518
HP:0001557	Prenatal movement abnormality	1861	TOR1A	OMIM:618947
HP:0001557	Prenatal movement abnormality	51692	CPSF3	OMIM:619876
HP:0001557	Prenatal movement abnormality	8087	FXR1	OMIM:618823
HP:0001557	Prenatal movement abnormality	8364	H4C3	OMIM:619758
HP:0001557	Prenatal movement abnormality	54499	TMCO1	OMIM:213980
HP:0001557	Prenatal movement abnormality	51611	DPH5	OMIM:620070
HP:0001557	Prenatal movement abnormality	4927	NUP88	OMIM:618393
HP:0001557	Prenatal movement abnormality	10293	TRAIP	OMIM:616777
HP:0001557	Prenatal movement abnormality	163175	LGI4	OMIM:617468
HP:0001557	Prenatal movement abnormality	60482	SLC5A7	ORPHA:98914
HP:0001557	Prenatal movement abnormality	1305	COL13A1	ORPHA:98914
HP:0001557	Prenatal movement abnormality	1103	CHAT	ORPHA:98914
HP:0001557	Prenatal movement abnormality	6576	SLC25A1	ORPHA:98914
HP:0001557	Prenatal movement abnormality	6843	VAMP1	ORPHA:98914
HP:0001557	Prenatal movement abnormality	6843	VAMP1	OMIM:618323
HP:0001557	Prenatal movement abnormality	375790	AGRN	ORPHA:98914
HP:0001557	Prenatal movement abnormality	6572	SLC18A3	ORPHA:98914
HP:0001557	Prenatal movement abnormality	55164	SHQ1	OMIM:619922
HP:0001557	Prenatal movement abnormality	6519	SLC3A1	ORPHA:163690
HP:0001557	Prenatal movement abnormality	6519	SLC3A1	ORPHA:163693
HP:0001557	Prenatal movement abnormality	9581	PREPL	ORPHA:163690
HP:0001557	Prenatal movement abnormality	9581	PREPL	ORPHA:163693
HP:0001557	Prenatal movement abnormality	51244	CCDC174	OMIM:616816
HP:0001557	Prenatal movement abnormality	6663	SOX10	OMIM:609136
HP:0001557	Prenatal movement abnormality	2065	ERBB3	OMIM:607598
HP:0001557	Prenatal movement abnormality	6329	SCN4A	OMIM:620351
HP:0001557	Prenatal movement abnormality	6329	SCN4A	OMIM:620369
HP:0001557	Prenatal movement abnormality	5495	PPM1B	ORPHA:163693
HP:0001557	Prenatal movement abnormality	79823	CAMKMT	ORPHA:163693
HP:0001557	Prenatal movement abnormality	342035	GLDN	OMIM:617194
HP:0001557	Prenatal movement abnormality	440	ASNS	OMIM:615574
HP:0001557	Prenatal movement abnormality	729920	CRPPA	OMIM:614643
HP:0001557	Prenatal movement abnormality	8504	PEX3	OMIM:614882
HP:0001557	Prenatal movement abnormality	10269	ZMPSTE24	ORPHA:1662
HP:0001557	Prenatal movement abnormality	10269	ZMPSTE24	OMIM:275210
HP:0001557	Prenatal movement abnormality	84570	COL25A1	ORPHA:1143
HP:0001557	Prenatal movement abnormality	57222	ERGIC1	ORPHA:1143
HP:0001557	Prenatal movement abnormality	5824	PEX19	OMIM:614886
HP:0001557	Prenatal movement abnormality	5430	POLR2A	OMIM:618603
HP:0001557	Prenatal movement abnormality	6567	SLC16A2	ORPHA:59
HP:0001557	Prenatal movement abnormality	23040	MYT1L	ORPHA:647799
HP:0001557	Prenatal movement abnormality	81570	CLPB	OMIM:616271
HP:0001557	Prenatal movement abnormality	58497	PRUNE1	OMIM:617481
HP:0001557	Prenatal movement abnormality	54101	RIPK4	OMIM:263650
HP:0001557	Prenatal movement abnormality	115286	SLC25A26	OMIM:616794
HP:0001557	Prenatal movement abnormality	29968	PSAT1	OMIM:616038
HP:0001557	Prenatal movement abnormality	5081	PAX7	OMIM:618578
HP:0001557	Prenatal movement abnormality	27145	FILIP1	OMIM:620775
HP:0001557	Prenatal movement abnormality	78987	CRELD1	OMIM:620771
HP:0001557	Prenatal movement abnormality	389827	MYMK	OMIM:254940
HP:0001557	Prenatal movement abnormality	285489	DOK7	OMIM:254300
HP:0001557	Prenatal movement abnormality	55605	KIF21A	ORPHA:994
HP:0001557	Prenatal movement abnormality	7846	TUBA1A	ORPHA:994
HP:0001557	Prenatal movement abnormality	4654	MYOD1	ORPHA:994
HP:0001557	Prenatal movement abnormality	4654	MYOD1	OMIM:618975
HP:0001557	Prenatal movement abnormality	94005	PIGS	OMIM:618143
HP:0001557	Prenatal movement abnormality	2733	GLE1	OMIM:611890
HP:0001557	Prenatal movement abnormality	84665	MYPN	ORPHA:171439
HP:0001557	Prenatal movement abnormality	390594	KBTBD13	ORPHA:171439
HP:0001557	Prenatal movement abnormality	91754	NEK9	OMIM:617022
HP:0001557	Prenatal movement abnormality	3800	KIF5C	OMIM:615282
HP:0001557	Prenatal movement abnormality	1134	CHRNA1	OMIM:253290
HP:0001557	Prenatal movement abnormality	340533	NEXMIF	OMIM:300912
HP:0001557	Prenatal movement abnormality	2743	GLRB	OMIM:614619
HP:0007621	Telangiectasia of extensor surfaces	54345	SOX18	OMIM:137940
HP:0007623	Pigmentation anomalies of sun-exposed skin	2074	ERCC6	OMIM:600630
HP:0430151	Positive respiratory tract infectious agent test	3659	IRF1	OMIM:620668
HP:0033763	Death in adulthood	4624	MYH6	OMIM:613251
HP:0033763	Death in adulthood	7137	TNNI3	OMIM:613286
HP:0033763	Death in adulthood	60	ACTB	ORPHA:79107
HP:0033763	Death in adulthood	4072	EPCAM	ORPHA:144
HP:0033763	Death in adulthood	4292	MLH1	ORPHA:144
HP:0033763	Death in adulthood	5395	PMS2	ORPHA:144
HP:0033763	Death in adulthood	7048	TGFBR2	ORPHA:144
HP:0033763	Death in adulthood	3845	KRAS	ORPHA:144
HP:0033763	Death in adulthood	5290	PIK3CA	ORPHA:144
HP:0033763	Death in adulthood	2956	MSH6	ORPHA:144
HP:0033763	Death in adulthood	5378	PMS1	ORPHA:144
HP:0033763	Death in adulthood	4436	MSH2	ORPHA:144
HP:0033763	Death in adulthood	27183	VPS4A	OMIM:619273
HP:0033763	Death in adulthood	1832	DSP	OMIM:605676
HP:0033763	Death in adulthood	6329	SCN4A	ORPHA:682
HP:0033763	Death in adulthood	10269	ZMPSTE24	OMIM:608612
HP:0033763	Death in adulthood	3918	LAMC2	OMIM:619786
HP:0033763	Death in adulthood	351	APP	ORPHA:100006
HP:0033763	Death in adulthood	1471	CST3	ORPHA:100008
HP:0033763	Death in adulthood	6804	STX1A	ORPHA:904
HP:0033763	Death in adulthood	7461	CLIP2	ORPHA:904
HP:0033763	Death in adulthood	84277	DNAJC30	ORPHA:904
HP:0033763	Death in adulthood	8468	FKBP6	ORPHA:904
HP:0033763	Death in adulthood	5982	RFC2	ORPHA:904
HP:0033763	Death in adulthood	2969	GTF2I	ORPHA:904
HP:0033763	Death in adulthood	3984	LIMK1	ORPHA:904
HP:0033763	Death in adulthood	9569	GTF2IRD1	ORPHA:904
HP:0033763	Death in adulthood	155382	VPS37D	ORPHA:904
HP:0033763	Death in adulthood	155368	METTL27	ORPHA:904
HP:0033763	Death in adulthood	114049	BUD23	ORPHA:904
HP:0033763	Death in adulthood	7458	EIF4H	ORPHA:904
HP:0033763	Death in adulthood	84163	GTF2IRD2	ORPHA:904
HP:0033763	Death in adulthood	26608	TBL2	ORPHA:904
HP:0033763	Death in adulthood	653361	NCF1	ORPHA:904
HP:0033763	Death in adulthood	135886	TMEM270	ORPHA:904
HP:0033763	Death in adulthood	9031	BAZ1B	ORPHA:904
HP:0033763	Death in adulthood	2006	ELN	ORPHA:904
HP:0033763	Death in adulthood	4625	MYH7	OMIM:255160
HP:0033763	Death in adulthood	1890	TYMP	OMIM:603041
HP:0033763	Death in adulthood	5428	POLG	OMIM:603041
HP:0033763	Death in adulthood	617	BCS1L	ORPHA:53693
HP:0033763	Death in adulthood	11128	POLR3A	OMIM:607694
HP:0033763	Death in adulthood	55703	POLR3B	OMIM:607694
HP:0033764	Death in middle age	4624	MYH6	OMIM:613251
HP:0033764	Death in middle age	7137	TNNI3	OMIM:613286
HP:0033769	Fundic gland polyposis	324	APC	OMIM:619182
HP:0033769	Fundic gland polyposis	8313	AXIN2	OMIM:608615
HP:0007754	Macular dystrophy	2202	EFEMP1	ORPHA:75376
HP:0007754	Macular dystrophy	3075	CFH	ORPHA:75376
HP:0007754	Macular dystrophy	3426	CFI	ORPHA:75376
HP:0007754	Macular dystrophy	6785	ELOVL4	OMIM:600110
HP:0007754	Macular dystrophy	4166	CHST6	OMIM:217800
HP:0007754	Macular dystrophy	3617	IMPG1	OMIM:153870
HP:0007754	Macular dystrophy	3617	IMPG1	OMIM:616151
HP:0007754	Macular dystrophy	1001	CDH3	OMIM:225280
HP:0007754	Macular dystrophy	1001	CDH3	OMIM:601553
HP:0007754	Macular dystrophy	1001	CDH3	ORPHA:1897
HP:0007754	Macular dystrophy	8842	PROM1	OMIM:608051
HP:0007754	Macular dystrophy	344658	SAMD7	OMIM:620762
HP:0007754	Macular dystrophy	5189	PEX1	OMIM:234580
HP:0007754	Macular dystrophy	93426	SYCE1	OMIM:616947
HP:0007754	Macular dystrophy	4644	MYO5A	ORPHA:33445
HP:0007754	Macular dystrophy	256471	MFSD8	OMIM:616170
HP:0007754	Macular dystrophy	50939	IMPG2	OMIM:616152
HP:0007754	Macular dystrophy	7078	TIMP3	OMIM:136900
HP:0007754	Macular dystrophy	7078	TIMP3	ORPHA:59181
HP:0007754	Macular dystrophy	5961	PRPH2	OMIM:169150
HP:0007754	Macular dystrophy	5961	PRPH2	OMIM:608161
HP:0007754	Macular dystrophy	7439	BEST1	OMIM:153700
HP:0007754	Macular dystrophy	92002	CCNQ	ORPHA:140952
HP:0007754	Macular dystrophy	94137	RP1L1	OMIM:613587
HP:0007754	Macular dystrophy	129880	BBS5	OMIM:615983
HP:0007979	Gaze-evoked horizontal nystagmus	3708	ITPR1	OMIM:606658
HP:0007979	Gaze-evoked horizontal nystagmus	3708	ITPR1	OMIM:117360
HP:0007979	Gaze-evoked horizontal nystagmus	5934	RBL2	OMIM:619690
HP:0007979	Gaze-evoked horizontal nystagmus	773	CACNA1A	OMIM:183086
HP:0007979	Gaze-evoked horizontal nystagmus	773	CACNA1A	ORPHA:98758
HP:0007979	Gaze-evoked horizontal nystagmus	773	CACNA1A	ORPHA:569
HP:0007979	Gaze-evoked horizontal nystagmus	2643	GCH1	OMIM:128230
HP:0007979	Gaze-evoked horizontal nystagmus	26278	SACS	ORPHA:98
HP:0007979	Gaze-evoked horizontal nystagmus	6658	SOX3	ORPHA:67045
HP:0007979	Gaze-evoked horizontal nystagmus	146227	BEAN1	OMIM:117210
HP:0007979	Gaze-evoked horizontal nystagmus	255928	SYT14	ORPHA:284271
HP:0007979	Gaze-evoked horizontal nystagmus	255928	SYT14	OMIM:614229
HP:0007979	Gaze-evoked horizontal nystagmus	8913	CACNA1G	ORPHA:458803
HP:0007979	Gaze-evoked horizontal nystagmus	131669	UROC1	ORPHA:210128
HP:0007979	Gaze-evoked horizontal nystagmus	5081	PAX7	OMIM:618578
HP:0007979	Gaze-evoked horizontal nystagmus	54974	THG1L	OMIM:618800
HP:0007979	Gaze-evoked horizontal nystagmus	2911	GRM1	OMIM:614831
HP:0007979	Gaze-evoked horizontal nystagmus	2911	GRM1	ORPHA:324262
HP:0007979	Gaze-evoked horizontal nystagmus	3752	KCND3	OMIM:607346
HP:0007979	Gaze-evoked horizontal nystagmus	112476	PRRT2	ORPHA:569
HP:0007979	Gaze-evoked horizontal nystagmus	6323	SCN1A	ORPHA:569
HP:0007979	Gaze-evoked horizontal nystagmus	477	ATP1A2	ORPHA:569
HP:0007979	Gaze-evoked horizontal nystagmus	2259	FGF14	OMIM:620174
HP:0001558	Decreased fetal movement	58	ACTA1	ORPHA:97240
HP:0001558	Decreased fetal movement	58	ACTA1	ORPHA:171433
HP:0001558	Decreased fetal movement	58	ACTA1	ORPHA:171430
HP:0001558	Decreased fetal movement	58	ACTA1	OMIM:620278
HP:0001558	Decreased fetal movement	58	ACTA1	ORPHA:2020
HP:0001558	Decreased fetal movement	58	ACTA1	OMIM:161800
HP:0001558	Decreased fetal movement	2261	FGFR3	OMIM:187601
HP:0001558	Decreased fetal movement	2261	FGFR3	OMIM:187600
HP:0001558	Decreased fetal movement	4359	MPZ	OMIM:618184
HP:0001558	Decreased fetal movement	1145	CHRNE	OMIM:608931
HP:0001558	Decreased fetal movement	2673	GFPT1	OMIM:608931
HP:0001558	Decreased fetal movement	27238	GPKOW	ORPHA:2570
HP:0001558	Decreased fetal movement	199857	ALG14	OMIM:619036
HP:0001558	Decreased fetal movement	29925	GMPPB	OMIM:615350
HP:0001558	Decreased fetal movement	29925	GMPPB	OMIM:615351
HP:0001558	Decreased fetal movement	5351	PLOD1	OMIM:225400
HP:0001558	Decreased fetal movement	56896	DPYSL5	OMIM:619435
HP:0001558	Decreased fetal movement	1144	CHRND	OMIM:616322
HP:0001558	Decreased fetal movement	8506	CNTNAP1	OMIM:618186
HP:0001558	Decreased fetal movement	8506	CNTNAP1	OMIM:616286
HP:0001558	Decreased fetal movement	5393	EXOSC9	OMIM:618065
HP:0001558	Decreased fetal movement	112	ADCY6	OMIM:616287
HP:0001558	Decreased fetal movement	4000	LMNA	OMIM:619793
HP:0001558	Decreased fetal movement	4000	LMNA	ORPHA:157973
HP:0001558	Decreased fetal movement	4000	LMNA	ORPHA:1662
HP:0001558	Decreased fetal movement	4000	LMNA	OMIM:613205
HP:0001558	Decreased fetal movement	23345	SYNE1	ORPHA:88644
HP:0001558	Decreased fetal movement	23345	SYNE1	OMIM:618484
HP:0001558	Decreased fetal movement	23345	SYNE1	ORPHA:319332
HP:0001558	Decreased fetal movement	56203	LMOD3	OMIM:616165
HP:0001558	Decreased fetal movement	56203	LMOD3	ORPHA:171430
HP:0001558	Decreased fetal movement	5913	RAPSN	OMIM:616326
HP:0001558	Decreased fetal movement	5913	RAPSN	OMIM:618388
HP:0001558	Decreased fetal movement	2632	GBE1	OMIM:232500
HP:0001558	Decreased fetal movement	51126	NAA20	OMIM:619717
HP:0001558	Decreased fetal movement	10059	DNM1L	OMIM:614388
HP:0001558	Decreased fetal movement	1355	COX15	OMIM:615119
HP:0001558	Decreased fetal movement	145173	B3GLCT	ORPHA:709
HP:0001558	Decreased fetal movement	79796	ALG9	OMIM:608776
HP:0001558	Decreased fetal movement	79796	ALG9	ORPHA:79328
HP:0001558	Decreased fetal movement	4703	NEB	OMIM:256030
HP:0001558	Decreased fetal movement	4703	NEB	ORPHA:171433
HP:0001558	Decreased fetal movement	4703	NEB	ORPHA:171430
HP:0001558	Decreased fetal movement	4703	NEB	OMIM:619334
HP:0001558	Decreased fetal movement	10102	TSFM	OMIM:610505
HP:0001558	Decreased fetal movement	274	BIN1	ORPHA:169189
HP:0001558	Decreased fetal movement	274	BIN1	OMIM:255200
HP:0001558	Decreased fetal movement	64419	MTMR14	ORPHA:169189
HP:0001558	Decreased fetal movement	4618	MYF6	ORPHA:169189
HP:0001558	Decreased fetal movement	1785	DNM2	ORPHA:169189
HP:0001558	Decreased fetal movement	1785	DNM2	OMIM:615368
HP:0001558	Decreased fetal movement	6261	RYR1	ORPHA:169189
HP:0001558	Decreased fetal movement	6261	RYR1	OMIM:255320
HP:0001558	Decreased fetal movement	6261	RYR1	ORPHA:98905
HP:0001558	Decreased fetal movement	6261	RYR1	OMIM:619542
HP:0001558	Decreased fetal movement	2629	GBA1	OMIM:608013
HP:0001558	Decreased fetal movement	2629	GBA1	ORPHA:85212
HP:0001558	Decreased fetal movement	100033413	SNORD116-1	OMIM:176270
HP:0001558	Decreased fetal movement	8924	HERC2	OMIM:176270
HP:0001558	Decreased fetal movement	23742	NPAP1	OMIM:176270
HP:0001558	Decreased fetal movement	338433	SNORD115-1	OMIM:176270
HP:0001558	Decreased fetal movement	54551	MAGEL2	OMIM:176270
HP:0001558	Decreased fetal movement	54551	MAGEL2	ORPHA:177904
HP:0001558	Decreased fetal movement	54551	MAGEL2	ORPHA:177901
HP:0001558	Decreased fetal movement	54551	MAGEL2	ORPHA:398069
HP:0001558	Decreased fetal movement	54551	MAGEL2	ORPHA:177910
HP:0001558	Decreased fetal movement	54551	MAGEL2	OMIM:615547
HP:0001558	Decreased fetal movement	54551	MAGEL2	ORPHA:98754
HP:0001558	Decreased fetal movement	7681	MKRN3	OMIM:176270
HP:0001558	Decreased fetal movement	145624	PWAR1	OMIM:176270
HP:0001558	Decreased fetal movement	3653	IPW	OMIM:176270
HP:0001558	Decreased fetal movement	791114	PWRN1	OMIM:176270
HP:0001558	Decreased fetal movement	1303	COL12A1	ORPHA:75840
HP:0001558	Decreased fetal movement	1291	COL6A1	ORPHA:75840
HP:0001558	Decreased fetal movement	1291	COL6A1	OMIM:158810
HP:0001558	Decreased fetal movement	1292	COL6A2	ORPHA:75840
HP:0001558	Decreased fetal movement	1292	COL6A2	OMIM:620727
HP:0001558	Decreased fetal movement	1293	COL6A3	ORPHA:75840
HP:0001558	Decreased fetal movement	59341	TRPV4	OMIM:156530
HP:0001558	Decreased fetal movement	59341	TRPV4	OMIM:600175
HP:0001558	Decreased fetal movement	3481	IGF2	ORPHA:231144
HP:0001558	Decreased fetal movement	283120	H19	ORPHA:231144
HP:0001558	Decreased fetal movement	2073	ERCC5	OMIM:616570
HP:0001558	Decreased fetal movement	23114	NFASC	OMIM:618356
HP:0001558	Decreased fetal movement	9578	CDC42BPB	OMIM:619841
HP:0001558	Decreased fetal movement	10324	KLHL41	ORPHA:171433
HP:0001558	Decreased fetal movement	10324	KLHL41	ORPHA:171430
HP:0001558	Decreased fetal movement	7170	TPM3	ORPHA:171433
HP:0001558	Decreased fetal movement	7170	TPM3	ORPHA:2020
HP:0001558	Decreased fetal movement	7170	TPM3	OMIM:255310
HP:0001558	Decreased fetal movement	51741	WWOX	OMIM:616211
HP:0001558	Decreased fetal movement	51741	WWOX	ORPHA:442835
HP:0001558	Decreased fetal movement	131377	KLHL40	ORPHA:171430
HP:0001558	Decreased fetal movement	131377	KLHL40	OMIM:615348
HP:0001558	Decreased fetal movement	4649	MYO9A	OMIM:618198
HP:0001558	Decreased fetal movement	4649	MYO9A	ORPHA:98914
HP:0001558	Decreased fetal movement	6616	SNAP25	OMIM:616330
HP:0001558	Decreased fetal movement	6616	SNAP25	ORPHA:98914
HP:0001558	Decreased fetal movement	84466	MEGF10	OMIM:614399
HP:0001558	Decreased fetal movement	1763	DNA2	ORPHA:352470
HP:0001558	Decreased fetal movement	2314	FLII	ORPHA:819
HP:0001558	Decreased fetal movement	23096	IQSEC2	ORPHA:819
HP:0001558	Decreased fetal movement	10743	RAI1	ORPHA:819
HP:0001558	Decreased fetal movement	10522	DEAF1	ORPHA:819
HP:0001558	Decreased fetal movement	55033	FKBP14	OMIM:614557
HP:0001558	Decreased fetal movement	9200	HACD1	OMIM:619967
HP:0001558	Decreased fetal movement	9200	HACD1	ORPHA:2020
HP:0001558	Decreased fetal movement	3508	IGHMBP2	OMIM:604320
HP:0001558	Decreased fetal movement	5979	RET	ORPHA:99803
HP:0001558	Decreased fetal movement	429	ASCL1	ORPHA:99803
HP:0001558	Decreased fetal movement	8929	PHOX2B	ORPHA:99803
HP:0001558	Decreased fetal movement	10073	SNUPN	OMIM:620793
HP:0001558	Decreased fetal movement	1760	DMPK	OMIM:160900
HP:0001558	Decreased fetal movement	1760	DMPK	ORPHA:589821
HP:0001558	Decreased fetal movement	7125	TNNC2	OMIM:620161
HP:0001558	Decreased fetal movement	284403	WDR62	OMIM:604317
HP:0001558	Decreased fetal movement	1146	CHRNG	OMIM:265000
HP:0001558	Decreased fetal movement	6638	SNRPN	ORPHA:177904
HP:0001558	Decreased fetal movement	6638	SNRPN	ORPHA:177901
HP:0001558	Decreased fetal movement	6638	SNRPN	ORPHA:177910
HP:0001558	Decreased fetal movement	6638	SNRPN	ORPHA:98754
HP:0001558	Decreased fetal movement	4692	NDN	ORPHA:177904
HP:0001558	Decreased fetal movement	4692	NDN	ORPHA:177901
HP:0001558	Decreased fetal movement	4692	NDN	ORPHA:177910
HP:0001558	Decreased fetal movement	4692	NDN	ORPHA:98754
HP:0001558	Decreased fetal movement	4948	OCA2	ORPHA:177904
HP:0001558	Decreased fetal movement	4948	OCA2	ORPHA:177901
HP:0001558	Decreased fetal movement	4948	OCA2	ORPHA:98754
HP:0001558	Decreased fetal movement	4621	MYH3	OMIM:193700
HP:0001558	Decreased fetal movement	64324	NSD1	OMIM:117550
HP:0001558	Decreased fetal movement	55906	ZC4H2	OMIM:314580
HP:0001558	Decreased fetal movement	8260	NAA10	OMIM:300855
HP:0001558	Decreased fetal movement	146862	UNC45B	OMIM:619178
HP:0001558	Decreased fetal movement	1272	CNTN1	OMIM:612540
HP:0001558	Decreased fetal movement	23511	NUP188	OMIM:618804
HP:0001558	Decreased fetal movement	1147	CHUK	OMIM:613630
HP:0001558	Decreased fetal movement	27315	PGAP2	OMIM:614207
HP:0001558	Decreased fetal movement	55681	SCYL2	OMIM:618766
HP:0001558	Decreased fetal movement	55681	SCYL2	ORPHA:1143
HP:0001558	Decreased fetal movement	93627	TBCK	OMIM:616900
HP:0001558	Decreased fetal movement	51008	ASCC1	OMIM:616867
HP:0001558	Decreased fetal movement	57211	ADGRG6	OMIM:616503
HP:0001558	Decreased fetal movement	9325	TRIP4	OMIM:616866
HP:0001558	Decreased fetal movement	9570	GOSR2	OMIM:620166
HP:0001558	Decreased fetal movement	6606	SMN1	OMIM:253300
HP:0001558	Decreased fetal movement	1717	DHCR7	OMIM:270400
HP:0001558	Decreased fetal movement	10815	CPLX1	ORPHA:280
HP:0001558	Decreased fetal movement	10815	CPLX1	OMIM:194190
HP:0001558	Decreased fetal movement	54872	PIGG	ORPHA:280
HP:0001558	Decreased fetal movement	7469	NELFA	ORPHA:280
HP:0001558	Decreased fetal movement	1487	CTBP1	ORPHA:280
HP:0001558	Decreased fetal movement	1487	CTBP1	OMIM:194190
HP:0001558	Decreased fetal movement	3954	LETM1	ORPHA:280
HP:0001558	Decreased fetal movement	3954	LETM1	OMIM:194190
HP:0001558	Decreased fetal movement	7468	NSD2	ORPHA:280
HP:0001558	Decreased fetal movement	7468	NSD2	OMIM:194190
HP:0001558	Decreased fetal movement	57190	SELENON	ORPHA:2020
HP:0001558	Decreased fetal movement	4633	MYL2	ORPHA:2020
HP:0001558	Decreased fetal movement	3679	ITGA7	ORPHA:2020
HP:0001558	Decreased fetal movement	7169	TPM2	ORPHA:2020
HP:0001558	Decreased fetal movement	51776	MAP3K20	ORPHA:2020
HP:0001558	Decreased fetal movement	51651	PTRH2	ORPHA:456312
HP:0001558	Decreased fetal movement	51651	PTRH2	OMIM:616263
HP:0001558	Decreased fetal movement	2906	GRIN2D	OMIM:617162
HP:0001558	Decreased fetal movement	2906	GRIN2D	ORPHA:442835
HP:0001558	Decreased fetal movement	7317	UBA1	OMIM:301830
HP:0001558	Decreased fetal movement	127833	SYT2	OMIM:619461
HP:0001558	Decreased fetal movement	127833	SYT2	ORPHA:98914
HP:0001558	Decreased fetal movement	3560	IL2RB	OMIM:618495
HP:0001558	Decreased fetal movement	6885	MAP3K7	OMIM:157800
HP:0001558	Decreased fetal movement	4613	MYCN	OMIM:164280
HP:0001558	Decreased fetal movement	2783	GNB2	OMIM:619503
HP:0001558	Decreased fetal movement	4632	MYL1	OMIM:618414
HP:0001558	Decreased fetal movement	3737	KCNA2	ORPHA:442835
HP:0001558	Decreased fetal movement	1759	DNM1	ORPHA:442835
HP:0001558	Decreased fetal movement	8120	AP3B2	ORPHA:442835
HP:0001558	Decreased fetal movement	523	ATP6V1A	ORPHA:442835
HP:0001558	Decreased fetal movement	10991	SLC38A3	ORPHA:442835
HP:0001558	Decreased fetal movement	51343	FZR1	ORPHA:442835
HP:0001558	Decreased fetal movement	3747	KCNC2	ORPHA:442835
HP:0001558	Decreased fetal movement	1917	EEF1A2	ORPHA:442835
HP:0001558	Decreased fetal movement	23219	FBXO28	ORPHA:442835
HP:0001558	Decreased fetal movement	23219	FBXO28	OMIM:619777
HP:0001558	Decreased fetal movement	2561	GABRB2	ORPHA:442835
HP:0001558	Decreased fetal movement	8831	SYNGAP1	ORPHA:442835
HP:0001558	Decreased fetal movement	2558	GABRA5	ORPHA:442835
HP:0001558	Decreased fetal movement	116150	NUS1	ORPHA:442835
HP:0001558	Decreased fetal movement	1213	CLTC	ORPHA:442835
HP:0001558	Decreased fetal movement	23334	SZT2	ORPHA:442835
HP:0001558	Decreased fetal movement	348980	HCN1	ORPHA:442835
HP:0001558	Decreased fetal movement	25977	NECAP1	ORPHA:442835
HP:0001558	Decreased fetal movement	25977	NECAP1	OMIM:615833
HP:0001558	Decreased fetal movement	23241	PACS2	ORPHA:442835
HP:0001558	Decreased fetal movement	16	AARS1	ORPHA:442835
HP:0001558	Decreased fetal movement	6334	SCN8A	ORPHA:442835
HP:0001558	Decreased fetal movement	9568	GABBR2	ORPHA:442835
HP:0001558	Decreased fetal movement	2555	GABRA2	ORPHA:442835
HP:0001558	Decreased fetal movement	55152	DALRD3	ORPHA:442835
HP:0001558	Decreased fetal movement	26999	CYFIP2	ORPHA:442835
HP:0001558	Decreased fetal movement	4915	NTRK2	ORPHA:442835
HP:0001558	Decreased fetal movement	25973	PARS2	ORPHA:442835
HP:0001558	Decreased fetal movement	23097	CDK19	ORPHA:442835
HP:0001558	Decreased fetal movement	2257	FGF12	ORPHA:442835
HP:0001558	Decreased fetal movement	5530	PPP3CA	ORPHA:442835
HP:0001558	Decreased fetal movement	478	ATP1A3	ORPHA:442835
HP:0001558	Decreased fetal movement	22906	TRAK1	ORPHA:442835
HP:0001558	Decreased fetal movement	2566	GABRG2	ORPHA:442835
HP:0001558	Decreased fetal movement	7532	YWHAG	ORPHA:442835
HP:0001558	Decreased fetal movement	79876	UBA5	ORPHA:442835
HP:0001558	Decreased fetal movement	6328	SCN3A	ORPHA:442835
HP:0001558	Decreased fetal movement	781	CACNA2D1	ORPHA:442835
HP:0001558	Decreased fetal movement	10659	CELF2	ORPHA:442835
HP:0001558	Decreased fetal movement	774	CACNA1B	ORPHA:442835
HP:0001558	Decreased fetal movement	51412	ACTL6B	ORPHA:442835
HP:0001558	Decreased fetal movement	2290	FOXG1	ORPHA:442835
HP:0001558	Decreased fetal movement	6506	SLC1A2	ORPHA:442835
HP:0001558	Decreased fetal movement	8867	SYNJ1	ORPHA:442835
HP:0001558	Decreased fetal movement	477	ATP1A2	ORPHA:442835
HP:0001558	Decreased fetal movement	3745	KCNB1	ORPHA:442835
HP:0001558	Decreased fetal movement	284111	SLC13A5	ORPHA:442835
HP:0001558	Decreased fetal movement	22866	CNKSR2	ORPHA:442835
HP:0001558	Decreased fetal movement	773	CACNA1A	ORPHA:442835
HP:0001558	Decreased fetal movement	6323	SCN1A	ORPHA:442835
HP:0001558	Decreased fetal movement	79947	DHDDS	ORPHA:442835
HP:0001558	Decreased fetal movement	79053	ALG8	OMIM:608104
HP:0001558	Decreased fetal movement	53834	FGFRL1	OMIM:194190
HP:0001558	Decreased fetal movement	57572	DOCK6	OMIM:614219
HP:0001558	Decreased fetal movement	60386	SLC25A19	ORPHA:99742
HP:0001558	Decreased fetal movement	26227	PHGDH	OMIM:256520
HP:0001558	Decreased fetal movement	4534	MTM1	ORPHA:596
HP:0001558	Decreased fetal movement	4534	MTM1	OMIM:310400
HP:0001558	Decreased fetal movement	4953	ODC1	OMIM:619075
HP:0001558	Decreased fetal movement	1798	DPAGT1	ORPHA:86309
HP:0001558	Decreased fetal movement	23299	BICD2	ORPHA:363454
HP:0001558	Decreased fetal movement	23299	BICD2	OMIM:618291
HP:0001558	Decreased fetal movement	253738	EBF3	OMIM:617330
HP:0001558	Decreased fetal movement	7874	USP7	ORPHA:500055
HP:0001558	Decreased fetal movement	57003	CCDC47	OMIM:618268
HP:0001558	Decreased fetal movement	157680	VPS13B	ORPHA:193
HP:0001558	Decreased fetal movement	4593	MUSK	OMIM:208150
HP:0001558	Decreased fetal movement	100128927	ZBTB42	OMIM:616248
HP:0001558	Decreased fetal movement	9453	GGPS1	OMIM:619518
HP:0001558	Decreased fetal movement	1861	TOR1A	OMIM:618947
HP:0001558	Decreased fetal movement	51692	CPSF3	OMIM:619876
HP:0001558	Decreased fetal movement	8087	FXR1	OMIM:618823
HP:0001558	Decreased fetal movement	8364	H4C3	OMIM:619758
HP:0001558	Decreased fetal movement	54499	TMCO1	OMIM:213980
HP:0001558	Decreased fetal movement	51611	DPH5	OMIM:620070
HP:0001558	Decreased fetal movement	4927	NUP88	OMIM:618393
HP:0001558	Decreased fetal movement	10293	TRAIP	OMIM:616777
HP:0001558	Decreased fetal movement	163175	LGI4	OMIM:617468
HP:0001558	Decreased fetal movement	60482	SLC5A7	ORPHA:98914
HP:0001558	Decreased fetal movement	1305	COL13A1	ORPHA:98914
HP:0001558	Decreased fetal movement	1103	CHAT	ORPHA:98914
HP:0001558	Decreased fetal movement	6576	SLC25A1	ORPHA:98914
HP:0001558	Decreased fetal movement	6843	VAMP1	ORPHA:98914
HP:0001558	Decreased fetal movement	6843	VAMP1	OMIM:618323
HP:0001558	Decreased fetal movement	375790	AGRN	ORPHA:98914
HP:0001558	Decreased fetal movement	6572	SLC18A3	ORPHA:98914
HP:0001558	Decreased fetal movement	55164	SHQ1	OMIM:619922
HP:0001558	Decreased fetal movement	6519	SLC3A1	ORPHA:163690
HP:0001558	Decreased fetal movement	6519	SLC3A1	ORPHA:163693
HP:0001558	Decreased fetal movement	9581	PREPL	ORPHA:163690
HP:0001558	Decreased fetal movement	9581	PREPL	ORPHA:163693
HP:0001558	Decreased fetal movement	51244	CCDC174	OMIM:616816
HP:0001558	Decreased fetal movement	6663	SOX10	OMIM:609136
HP:0001558	Decreased fetal movement	2065	ERBB3	OMIM:607598
HP:0001558	Decreased fetal movement	6329	SCN4A	OMIM:620351
HP:0001558	Decreased fetal movement	6329	SCN4A	OMIM:620369
HP:0001558	Decreased fetal movement	5495	PPM1B	ORPHA:163693
HP:0001558	Decreased fetal movement	79823	CAMKMT	ORPHA:163693
HP:0001558	Decreased fetal movement	342035	GLDN	OMIM:617194
HP:0001558	Decreased fetal movement	440	ASNS	OMIM:615574
HP:0001558	Decreased fetal movement	729920	CRPPA	OMIM:614643
HP:0001558	Decreased fetal movement	8504	PEX3	OMIM:614882
HP:0001558	Decreased fetal movement	10269	ZMPSTE24	ORPHA:1662
HP:0001558	Decreased fetal movement	10269	ZMPSTE24	OMIM:275210
HP:0001558	Decreased fetal movement	84570	COL25A1	ORPHA:1143
HP:0001558	Decreased fetal movement	57222	ERGIC1	ORPHA:1143
HP:0001558	Decreased fetal movement	5824	PEX19	OMIM:614886
HP:0001558	Decreased fetal movement	5430	POLR2A	OMIM:618603
HP:0001558	Decreased fetal movement	6567	SLC16A2	ORPHA:59
HP:0001558	Decreased fetal movement	23040	MYT1L	ORPHA:647799
HP:0001558	Decreased fetal movement	81570	CLPB	OMIM:616271
HP:0001558	Decreased fetal movement	58497	PRUNE1	OMIM:617481
HP:0001558	Decreased fetal movement	54101	RIPK4	OMIM:263650
HP:0001558	Decreased fetal movement	115286	SLC25A26	OMIM:616794
HP:0001558	Decreased fetal movement	29968	PSAT1	OMIM:616038
HP:0001558	Decreased fetal movement	5081	PAX7	OMIM:618578
HP:0001558	Decreased fetal movement	27145	FILIP1	OMIM:620775
HP:0001558	Decreased fetal movement	78987	CRELD1	OMIM:620771
HP:0001558	Decreased fetal movement	389827	MYMK	OMIM:254940
HP:0001558	Decreased fetal movement	285489	DOK7	OMIM:254300
HP:0001558	Decreased fetal movement	55605	KIF21A	ORPHA:994
HP:0001558	Decreased fetal movement	7846	TUBA1A	ORPHA:994
HP:0001558	Decreased fetal movement	4654	MYOD1	ORPHA:994
HP:0001558	Decreased fetal movement	4654	MYOD1	OMIM:618975
HP:0001558	Decreased fetal movement	94005	PIGS	OMIM:618143
HP:0001558	Decreased fetal movement	2733	GLE1	OMIM:611890
HP:0001558	Decreased fetal movement	84665	MYPN	ORPHA:171439
HP:0001558	Decreased fetal movement	390594	KBTBD13	ORPHA:171439
HP:0001558	Decreased fetal movement	91754	NEK9	OMIM:617022
HP:0001558	Decreased fetal movement	3800	KIF5C	OMIM:615282
HP:0001558	Decreased fetal movement	1134	CHRNA1	OMIM:253290
HP:0000546	Retinal degeneration	10594	PRPF8	OMIM:600059
HP:0000546	Retinal degeneration	10594	PRPF8	ORPHA:791
HP:0000546	Retinal degeneration	92840	REEP6	ORPHA:791
HP:0000546	Retinal degeneration	6094	ROM1	ORPHA:791
HP:0000546	Retinal degeneration	6017	RLBP1	ORPHA:791
HP:0000546	Retinal degeneration	6017	RLBP1	ORPHA:85128
HP:0000546	Retinal degeneration	7401	CLRN1	ORPHA:791
HP:0000546	Retinal degeneration	24	ABCA4	ORPHA:791
HP:0000546	Retinal degeneration	130557	ZNF513	ORPHA:791
HP:0000546	Retinal degeneration	582	BBS1	ORPHA:791
HP:0000546	Retinal degeneration	582	BBS1	OMIM:209900
HP:0000546	Retinal degeneration	92211	CDHR1	ORPHA:791
HP:0000546	Retinal degeneration	23568	ARL2BP	ORPHA:791
HP:0000546	Retinal degeneration	6121	RPE65	ORPHA:791
HP:0000546	Retinal degeneration	6121	RPE65	ORPHA:364055
HP:0000546	Retinal degeneration	54806	AHI1	ORPHA:791
HP:0000546	Retinal degeneration	6101	RP1	ORPHA:791
HP:0000546	Retinal degeneration	3419	IDH3A	ORPHA:791
HP:0000546	Retinal degeneration	4751	NEK2	ORPHA:791
HP:0000546	Retinal degeneration	346007	EYS	ORPHA:791
HP:0000546	Retinal degeneration	8100	IFT88	ORPHA:791
HP:0000546	Retinal degeneration	23020	SNRNP200	ORPHA:791
HP:0000546	Retinal degeneration	762	CA4	ORPHA:791
HP:0000546	Retinal degeneration	138050	HGSNAT	ORPHA:791
HP:0000546	Retinal degeneration	196	AHR	ORPHA:791
HP:0000546	Retinal degeneration	3614	IMPDH1	ORPHA:791
HP:0000546	Retinal degeneration	123016	TTC8	ORPHA:791
HP:0000546	Retinal degeneration	6103	RPGR	ORPHA:791
HP:0000546	Retinal degeneration	1406	CRX	ORPHA:791
HP:0000546	Retinal degeneration	5148	PDE6G	ORPHA:791
HP:0000546	Retinal degeneration	26160	IFT172	ORPHA:791
HP:0000546	Retinal degeneration	26160	IFT172	OMIM:615630
HP:0000546	Retinal degeneration	26121	PRPF31	ORPHA:791
HP:0000546	Retinal degeneration	583	BBS2	ORPHA:791
HP:0000546	Retinal degeneration	583	BBS2	OMIM:615981
HP:0000546	Retinal degeneration	4117	MAK	ORPHA:791
HP:0000546	Retinal degeneration	25794	FSCN2	ORPHA:791
HP:0000546	Retinal degeneration	375298	CERKL	ORPHA:791
HP:0000546	Retinal degeneration	3420	IDH3B	ORPHA:791
HP:0000546	Retinal degeneration	57670	KIAA1549	ORPHA:791
HP:0000546	Retinal degeneration	7275	TUB	ORPHA:791
HP:0000546	Retinal degeneration	24148	PRPF6	ORPHA:791
HP:0000546	Retinal degeneration	23418	CRB1	ORPHA:791
HP:0000546	Retinal degeneration	10461	MERTK	ORPHA:791
HP:0000546	Retinal degeneration	57709	SLC7A14	ORPHA:791
HP:0000546	Retinal degeneration	768206	PRCD	ORPHA:791
HP:0000546	Retinal degeneration	7399	USH2A	ORPHA:791
HP:0000546	Retinal degeneration	23370	ARHGEF18	ORPHA:791
HP:0000546	Retinal degeneration	5949	RBP3	ORPHA:791
HP:0000546	Retinal degeneration	6010	RHO	ORPHA:791
HP:0000546	Retinal degeneration	6100	RP9	ORPHA:791
HP:0000546	Retinal degeneration	10002	NR2E3	ORPHA:791
HP:0000546	Retinal degeneration	9227	LRAT	ORPHA:791
HP:0000546	Retinal degeneration	9227	LRAT	ORPHA:364055
HP:0000546	Retinal degeneration	84140	FAM161A	ORPHA:791
HP:0000546	Retinal degeneration	55812	SPATA7	ORPHA:791
HP:0000546	Retinal degeneration	55812	SPATA7	ORPHA:364055
HP:0000546	Retinal degeneration	55624	POMGNT1	ORPHA:791
HP:0000546	Retinal degeneration	55624	POMGNT1	OMIM:253280
HP:0000546	Retinal degeneration	79797	ZNF408	ORPHA:791
HP:0000546	Retinal degeneration	403	ARL3	ORPHA:791
HP:0000546	Retinal degeneration	5145	PDE6A	ORPHA:791
HP:0000546	Retinal degeneration	10210	TOPORS	ORPHA:791
HP:0000546	Retinal degeneration	8842	PROM1	ORPHA:791
HP:0000546	Retinal degeneration	9128	PRPF4	ORPHA:791
HP:0000546	Retinal degeneration	9128	PRPF4	OMIM:615922
HP:0000546	Retinal degeneration	145226	RDH12	ORPHA:791
HP:0000546	Retinal degeneration	50939	IMPG2	ORPHA:791
HP:0000546	Retinal degeneration	57545	CC2D2A	ORPHA:791
HP:0000546	Retinal degeneration	8481	OFD1	ORPHA:791
HP:0000546	Retinal degeneration	49855	SCAPER	ORPHA:791
HP:0000546	Retinal degeneration	9742	IFT140	ORPHA:791
HP:0000546	Retinal degeneration	2979	GUCA1B	ORPHA:791
HP:0000546	Retinal degeneration	1259	CNGA1	ORPHA:791
HP:0000546	Retinal degeneration	1258	CNGB1	ORPHA:791
HP:0000546	Retinal degeneration	60509	AGBL5	ORPHA:791
HP:0000546	Retinal degeneration	5961	PRPH2	ORPHA:791
HP:0000546	Retinal degeneration	388939	PCARE	ORPHA:791
HP:0000546	Retinal degeneration	7439	BEST1	ORPHA:791
HP:0000546	Retinal degeneration	9785	DHX38	ORPHA:791
HP:0000546	Retinal degeneration	7287	TULP1	ORPHA:791
HP:0000546	Retinal degeneration	7287	TULP1	OMIM:613843
HP:0000546	Retinal degeneration	5995	RGR	ORPHA:791
HP:0000546	Retinal degeneration	9129	PRPF3	ORPHA:791
HP:0000546	Retinal degeneration	55975	KLHL7	ORPHA:791
HP:0000546	Retinal degeneration	3617	IMPG1	ORPHA:791
HP:0000546	Retinal degeneration	94137	RP1L1	ORPHA:791
HP:0000546	Retinal degeneration	5158	PDE6B	ORPHA:791
HP:0000546	Retinal degeneration	6102	RP2	ORPHA:791
HP:0000546	Retinal degeneration	55857	KIZ	ORPHA:791
HP:0000546	Retinal degeneration	64218	SEMA4A	ORPHA:791
HP:0000546	Retinal degeneration	4901	NRL	ORPHA:791
HP:0000546	Retinal degeneration	157657	CFAP418	ORPHA:791
HP:0000546	Retinal degeneration	84100	ARL6	ORPHA:791
HP:0000546	Retinal degeneration	84100	ARL6	OMIM:209900
HP:0000546	Retinal degeneration	6295	SAG	ORPHA:791
HP:0000546	Retinal degeneration	79947	DHDDS	ORPHA:791
HP:0000546	Retinal degeneration	79947	DHDDS	ORPHA:442835
HP:0000546	Retinal degeneration	1499	CTNNB1	OMIM:617572
HP:0000546	Retinal degeneration	4547	MTTP	OMIM:200100
HP:0000546	Retinal degeneration	10681	GNB5	OMIM:617173
HP:0000546	Retinal degeneration	10681	GNB5	ORPHA:542306
HP:0000546	Retinal degeneration	3028	HSD17B10	OMIM:300438
HP:0000546	Retinal degeneration	3028	HSD17B10	ORPHA:391428
HP:0000546	Retinal degeneration	22901	ARSG	OMIM:618144
HP:0000546	Retinal degeneration	1161	ERCC8	ORPHA:90324
HP:0000546	Retinal degeneration	2074	ERCC6	ORPHA:90324
HP:0000546	Retinal degeneration	1356	CP	OMIM:604290
HP:0000546	Retinal degeneration	1356	CP	ORPHA:48818
HP:0000546	Retinal degeneration	10806	SDCCAG8	OMIM:615993
HP:0000546	Retinal degeneration	10806	SDCCAG8	OMIM:613615
HP:0000546	Retinal degeneration	54585	LZTFL1	OMIM:615994
HP:0000546	Retinal degeneration	338	APOB	OMIM:615558
HP:0000546	Retinal degeneration	755	CFAP410	OMIM:602271
HP:0000546	Retinal degeneration	6247	RS1	OMIM:312700
HP:0000546	Retinal degeneration	10283	CWC27	OMIM:250410
HP:0000546	Retinal degeneration	10283	CWC27	ORPHA:166035
HP:0000546	Retinal degeneration	54982	CLN6	OMIM:601780
HP:0000546	Retinal degeneration	80025	PANK2	OMIM:234200
HP:0000546	Retinal degeneration	285362	SUMF1	OMIM:272200
HP:0000546	Retinal degeneration	23503	ZFYVE26	OMIM:270700
HP:0000546	Retinal degeneration	167691	LCA5	ORPHA:364055
HP:0000546	Retinal degeneration	5191	PEX7	OMIM:266500
HP:0000546	Retinal degeneration	5264	PHYH	OMIM:266500
HP:0000546	Retinal degeneration	51741	WWOX	OMIM:616211
HP:0000546	Retinal degeneration	51741	WWOX	OMIM:614322
HP:0000546	Retinal degeneration	51741	WWOX	ORPHA:442835
HP:0000546	Retinal degeneration	4976	OPA1	OMIM:616896
HP:0000546	Retinal degeneration	4081	MAB21L1	OMIM:618479
HP:0000546	Retinal degeneration	85015	USP45	OMIM:618513
HP:0000546	Retinal degeneration	84197	POMK	OMIM:615249
HP:0000546	Retinal degeneration	1200	TPP1	OMIM:204500
HP:0000546	Retinal degeneration	7486	WRN	OMIM:277700
HP:0000546	Retinal degeneration	284086	NEK8	OMIM:613824
HP:0000546	Retinal degeneration	10908	PNPLA6	OMIM:275400
HP:0000546	Retinal degeneration	10908	PNPLA6	ORPHA:3363
HP:0000546	Retinal degeneration	57096	RPGRIP1	OMIM:613826
HP:0000546	Retinal degeneration	80208	SPG11	OMIM:604360
HP:0000546	Retinal degeneration	80208	SPG11	ORPHA:2822
HP:0000546	Retinal degeneration	4125	MAN2B1	OMIM:248500
HP:0000546	Retinal degeneration	91147	TMEM67	OMIM:613550
HP:0000546	Retinal degeneration	91147	TMEM67	OMIM:610688
HP:0000546	Retinal degeneration	5538	PPT1	OMIM:256730
HP:0000546	Retinal degeneration	10560	SLC19A2	OMIM:249270
HP:0000546	Retinal degeneration	1203	CLN5	OMIM:256731
HP:0000546	Retinal degeneration	23090	ZNF423	OMIM:614844
HP:0000546	Retinal degeneration	25974	MMACHC	ORPHA:79282
HP:0000546	Retinal degeneration	22897	CEP164	OMIM:614845
HP:0000546	Retinal degeneration	54148	MRPL39	OMIM:620646
HP:0000546	Retinal degeneration	10383	TUBB4B	OMIM:617879
HP:0000546	Retinal degeneration	79140	CCDC28B	OMIM:209900
HP:0000546	Retinal degeneration	23761	PISD	OMIM:618889
HP:0000546	Retinal degeneration	404672	GTF2H5	ORPHA:33364
HP:0000546	Retinal degeneration	833	CARS1	ORPHA:33364
HP:0000546	Retinal degeneration	2068	ERCC2	ORPHA:33364
HP:0000546	Retinal degeneration	7737	RNF113A	ORPHA:33364
HP:0000546	Retinal degeneration	136647	MPLKIP	ORPHA:33364
HP:0000546	Retinal degeneration	6897	TARS1	ORPHA:33364
HP:0000546	Retinal degeneration	16	AARS1	ORPHA:33364
HP:0000546	Retinal degeneration	16	AARS1	ORPHA:442835
HP:0000546	Retinal degeneration	2071	ERCC3	ORPHA:33364
HP:0000546	Retinal degeneration	2961	GTF2E2	ORPHA:33364
HP:0000546	Retinal degeneration	29929	ALG6	ORPHA:79320
HP:0000546	Retinal degeneration	1737	DLAT	ORPHA:79244
HP:0000546	Retinal degeneration	57192	MCOLN1	OMIM:252650
HP:0000546	Retinal degeneration	285440	CYP4V2	OMIM:210370
HP:0000546	Retinal degeneration	64802	NMNAT1	OMIM:619260
HP:0000546	Retinal degeneration	4982	TNFRSF11B	OMIM:239000
HP:0000546	Retinal degeneration	23155	CLCC1	OMIM:609913
HP:0000546	Retinal degeneration	585	BBS4	OMIM:615982
HP:0000546	Retinal degeneration	1201	CLN3	OMIM:204200
HP:0000546	Retinal degeneration	27241	BBS9	OMIM:615986
HP:0000546	Retinal degeneration	3737	KCNA2	ORPHA:442835
HP:0000546	Retinal degeneration	1759	DNM1	ORPHA:442835
HP:0000546	Retinal degeneration	8120	AP3B2	ORPHA:442835
HP:0000546	Retinal degeneration	523	ATP6V1A	ORPHA:442835
HP:0000546	Retinal degeneration	10991	SLC38A3	ORPHA:442835
HP:0000546	Retinal degeneration	51343	FZR1	ORPHA:442835
HP:0000546	Retinal degeneration	3747	KCNC2	ORPHA:442835
HP:0000546	Retinal degeneration	1917	EEF1A2	ORPHA:442835
HP:0000546	Retinal degeneration	23219	FBXO28	ORPHA:442835
HP:0000546	Retinal degeneration	2561	GABRB2	ORPHA:442835
HP:0000546	Retinal degeneration	8831	SYNGAP1	ORPHA:442835
HP:0000546	Retinal degeneration	2558	GABRA5	ORPHA:442835
HP:0000546	Retinal degeneration	2906	GRIN2D	ORPHA:442835
HP:0000546	Retinal degeneration	116150	NUS1	ORPHA:442835
HP:0000546	Retinal degeneration	1213	CLTC	ORPHA:442835
HP:0000546	Retinal degeneration	23334	SZT2	ORPHA:442835
HP:0000546	Retinal degeneration	348980	HCN1	ORPHA:442835
HP:0000546	Retinal degeneration	25977	NECAP1	ORPHA:442835
HP:0000546	Retinal degeneration	23241	PACS2	ORPHA:442835
HP:0000546	Retinal degeneration	6334	SCN8A	ORPHA:442835
HP:0000546	Retinal degeneration	9568	GABBR2	ORPHA:442835
HP:0000546	Retinal degeneration	2555	GABRA2	ORPHA:442835
HP:0000546	Retinal degeneration	55152	DALRD3	ORPHA:442835
HP:0000546	Retinal degeneration	26999	CYFIP2	ORPHA:442835
HP:0000546	Retinal degeneration	4915	NTRK2	ORPHA:442835
HP:0000546	Retinal degeneration	25973	PARS2	ORPHA:442835
HP:0000546	Retinal degeneration	23097	CDK19	ORPHA:442835
HP:0000546	Retinal degeneration	2257	FGF12	ORPHA:442835
HP:0000546	Retinal degeneration	5530	PPP3CA	ORPHA:442835
HP:0000546	Retinal degeneration	478	ATP1A3	ORPHA:442835
HP:0000546	Retinal degeneration	22906	TRAK1	ORPHA:442835
HP:0000546	Retinal degeneration	2566	GABRG2	ORPHA:442835
HP:0000546	Retinal degeneration	7532	YWHAG	ORPHA:442835
HP:0000546	Retinal degeneration	79876	UBA5	ORPHA:442835
HP:0000546	Retinal degeneration	6328	SCN3A	ORPHA:442835
HP:0000546	Retinal degeneration	781	CACNA2D1	ORPHA:442835
HP:0000546	Retinal degeneration	10659	CELF2	ORPHA:442835
HP:0000546	Retinal degeneration	774	CACNA1B	ORPHA:442835
HP:0000546	Retinal degeneration	51412	ACTL6B	ORPHA:442835
HP:0000546	Retinal degeneration	2290	FOXG1	ORPHA:442835
HP:0000546	Retinal degeneration	6506	SLC1A2	ORPHA:442835
HP:0000546	Retinal degeneration	8867	SYNJ1	ORPHA:442835
HP:0000546	Retinal degeneration	477	ATP1A2	ORPHA:442835
HP:0000546	Retinal degeneration	3745	KCNB1	ORPHA:442835
HP:0000546	Retinal degeneration	284111	SLC13A5	ORPHA:442835
HP:0000546	Retinal degeneration	22866	CNKSR2	ORPHA:442835
HP:0000546	Retinal degeneration	773	CACNA1A	ORPHA:442835
HP:0000546	Retinal degeneration	6323	SCN1A	ORPHA:442835
HP:0000546	Retinal degeneration	79158	GNPTAB	OMIM:252600
HP:0000546	Retinal degeneration	3425	IDUA	OMIM:607014
HP:0000546	Retinal degeneration	3425	IDUA	OMIM:607016
HP:0000546	Retinal degeneration	4000	LMNA	ORPHA:79474
HP:0000546	Retinal degeneration	114902	C1QTNF5	OMIM:605670
HP:0000546	Retinal degeneration	735	C9	OMIM:615591
HP:0000546	Retinal degeneration	83394	PITPNM3	OMIM:600977
HP:0000546	Retinal degeneration	84839	RAX2	OMIM:610381
HP:0000546	Retinal degeneration	84839	RAX2	OMIM:613757
HP:0000546	Retinal degeneration	3426	CFI	OMIM:615439
HP:0000546	Retinal degeneration	6785	ELOVL4	ORPHA:827
HP:0000546	Retinal degeneration	54714	CNGB3	ORPHA:827
HP:0000546	Retinal degeneration	5654	HTRA1	OMIM:610149
HP:0000546	Retinal degeneration	1471	CST3	OMIM:611953
HP:0000546	Retinal degeneration	23078	VWA8	OMIM:620422
HP:0000546	Retinal degeneration	9094	UNC119	OMIM:620342
HP:0000546	Retinal degeneration	10516	FBLN5	OMIM:608895
HP:0000546	Retinal degeneration	10516	FBLN5	OMIM:619764
HP:0000546	Retinal degeneration	6011	GRK1	ORPHA:75382
HP:0000546	Retinal degeneration	368	ABCC6	OMIM:177850
HP:0000546	Retinal degeneration	368	ABCC6	OMIM:264800
HP:0000546	Retinal degeneration	64131	XYLT1	OMIM:264800
HP:0000546	Retinal degeneration	64132	XYLT2	OMIM:264800
HP:0000546	Retinal degeneration	224	ALDH3A2	ORPHA:816
HP:0000546	Retinal degeneration	224	ALDH3A2	OMIM:270200
HP:0000546	Retinal degeneration	6314	ATXN7	OMIM:164500
HP:0000546	Retinal degeneration	6314	ATXN7	ORPHA:94147
HP:0000546	Retinal degeneration	348	APOE	OMIM:603075
HP:0000546	Retinal degeneration	10878	CFHR3	OMIM:603075
HP:0000546	Retinal degeneration	83872	HMCN1	OMIM:603075
HP:0000546	Retinal degeneration	3078	CFHR1	OMIM:603075
HP:0000546	Retinal degeneration	2192	FBLN1	ORPHA:404451
HP:0000546	Retinal degeneration	427	ASAH1	ORPHA:333
HP:0000546	Retinal degeneration	55129	ANO10	ORPHA:284289
HP:0000546	Retinal degeneration	84131	CEP78	OMIM:617236
HP:0000546	Retinal degeneration	26146	TRAF3IP1	OMIM:616629
HP:0000546	Retinal degeneration	5076	PAX2	OMIM:120330
HP:0000546	Retinal degeneration	1001	CDH3	OMIM:601553
HP:0000546	Retinal degeneration	1001	CDH3	ORPHA:1573
HP:0000546	Retinal degeneration	3980	LIG3	OMIM:619780
HP:0000546	Retinal degeneration	80781	COL18A1	ORPHA:1571
HP:0000546	Retinal degeneration	5062	PAK2	ORPHA:1571
HP:0000546	Retinal degeneration	3075	CFH	OMIM:610698
HP:0000546	Retinal degeneration	2201	FBN2	OMIM:616118
HP:0000546	Retinal degeneration	406987	MIR204	OMIM:616722
HP:0000546	Retinal degeneration	10273	STUB1	ORPHA:412057
HP:0000546	Retinal degeneration	1509	CTSD	OMIM:610127
HP:0000546	Retinal degeneration	5959	RDH5	ORPHA:52427
HP:0000546	Retinal degeneration	171023	ASXL1	ORPHA:97297
HP:0000546	Retinal degeneration	5130	PCYT1A	ORPHA:85167
HP:0000546	Retinal degeneration	5130	PCYT1A	OMIM:608940
HP:0000546	Retinal degeneration	284217	LAMA1	OMIM:615960
HP:0000546	Retinal degeneration	284217	LAMA1	ORPHA:370022
HP:0000546	Retinal degeneration	22926	ATF6	ORPHA:1872
HP:0000546	Retinal degeneration	1261	CNGA3	ORPHA:1872
HP:0000546	Retinal degeneration	5956	OPN1LW	ORPHA:1872
HP:0000546	Retinal degeneration	778	CACNA1F	ORPHA:1872
HP:0000546	Retinal degeneration	8754	ADAM9	ORPHA:1872
HP:0000546	Retinal degeneration	3000	GUCY2D	ORPHA:1872
HP:0000546	Retinal degeneration	22999	RIMS1	ORPHA:1872
HP:0000546	Retinal degeneration	128338	DRAM2	ORPHA:1872
HP:0000546	Retinal degeneration	2652	OPN1MW	ORPHA:1872
HP:0000546	Retinal degeneration	93589	CACNA2D4	ORPHA:1872
HP:0000546	Retinal degeneration	2978	GUCA1A	ORPHA:1872
HP:0000546	Retinal degeneration	282809	POC1B	ORPHA:1872
HP:0000546	Retinal degeneration	23093	TTLL5	ORPHA:1872
HP:0000546	Retinal degeneration	83723	TLCD3B	ORPHA:1872
HP:0000546	Retinal degeneration	23746	AIPL1	ORPHA:1872
HP:0000546	Retinal degeneration	9364	RAB28	ORPHA:1872
HP:0000546	Retinal degeneration	7078	TIMP3	ORPHA:59181
HP:0000546	Retinal degeneration	56623	INPP5E	ORPHA:75858
HP:0000546	Retinal degeneration	51095	TRNT1	OMIM:616959
HP:0000546	Retinal degeneration	760	CA2	ORPHA:2785
HP:0000546	Retinal degeneration	29954	POMT2	OMIM:236670
HP:0000546	Retinal degeneration	79147	FKRP	OMIM:236670
HP:0000546	Retinal degeneration	2218	FKTN	OMIM:236670
HP:0000546	Retinal degeneration	10585	POMT1	OMIM:236670
HP:0000546	Retinal degeneration	9215	LARGE1	OMIM:236670
HP:0000546	Retinal degeneration	2202	EFEMP1	ORPHA:75376
HP:0000546	Retinal degeneration	10733	PLK4	OMIM:616171
HP:0000546	Retinal degeneration	2629	GBA1	OMIM:230800
HP:0000546	Retinal degeneration	3098	HK1	OMIM:617460
HP:0000546	Retinal degeneration	169522	KCNV2	OMIM:610356
HP:0000546	Retinal degeneration	57724	EPG5	OMIM:242840
HP:0000546	Retinal degeneration	7867	MAPKAPK3	OMIM:617111
HP:0000546	Retinal degeneration	8565	YARS1	OMIM:619418
HP:0000546	Retinal degeneration	57728	WDR19	OMIM:616307
HP:0000546	Retinal degeneration	9187	SLC24A1	OMIM:613830
HP:0000546	Retinal degeneration	26504	CNNM4	OMIM:217080
HP:0000546	Retinal degeneration	6533	SLC6A6	OMIM:145350
HP:0000546	Retinal degeneration	344658	SAMD7	OMIM:620762
HP:0000546	Retinal degeneration	4990	SIX6	OMIM:212550
HP:0000546	Retinal degeneration	129880	BBS5	OMIM:615983
HP:0000546	Retinal degeneration	7840	ALMS1	ORPHA:64
HP:0000546	Retinal degeneration	5146	PDE6C	ORPHA:49382
HP:0000546	Retinal degeneration	5149	PDE6H	ORPHA:49382
HP:0000546	Retinal degeneration	2780	GNAT2	ORPHA:49382
HP:0000546	Retinal degeneration	112752	IFT43	OMIM:617871
HP:0000546	Retinal degeneration	51109	RDH11	OMIM:616108
HP:0000546	Retinal degeneration	83552	MFRP	OMIM:611040
HP:0000546	Retinal degeneration	1462	VCAN	OMIM:143200
HP:0000546	Retinal degeneration	5456	POU3F4	ORPHA:1435
HP:0000546	Retinal degeneration	1280	COL2A1	ORPHA:485
HP:0000546	Retinal degeneration	1280	COL2A1	OMIM:619248
HP:0000546	Retinal degeneration	652	BMP4	ORPHA:828
HP:0000546	Retinal degeneration	55214	P3H2	OMIM:614292
HP:0000546	Retinal degeneration	3769	KCNJ13	OMIM:193230
HP:0000546	Retinal degeneration	3105	HLA-A	ORPHA:179
HP:0000546	Retinal degeneration	6452	SH3BP2	OMIM:118400
HP:0000546	Retinal degeneration	5950	RBP4	OMIM:615147
HP:0007634	Nonarteritic anterior ischemic optic neuropathy	2811	GP1BA	OMIM:258660
HP:0007634	Nonarteritic anterior ischemic optic neuropathy	4854	NOTCH3	OMIM:125310
HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	51	ACOX1	OMIM:264470
HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	10195	ALG3	OMIM:601110
HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	7439	BEST1	OMIM:611809
HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	9227	LRAT	OMIM:613341
HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	5538	PPT1	OMIM:256730
HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	3000	GUCY2D	OMIM:204000
HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	3420	IDH3B	OMIM:612572
HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	3423	IDS	ORPHA:217085
HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	3423	IDS	ORPHA:217093
HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	285440	CYP4V2	ORPHA:41751
HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	85015	USP45	OMIM:618513
HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	55624	POMGNT1	OMIM:253280
HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	6010	RHO	OMIM:610445
HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	6295	SAG	OMIM:613758
HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	5995	RGR	OMIM:613769
HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	9215	LARGE1	OMIM:608840
HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	57192	MCOLN1	OMIM:252650
HP:0430150	Positive blood infectious agent test	3604	TNFRSF9	OMIM:620282
HP:0430150	Positive blood infectious agent test	84061	MAGT1	OMIM:300853
HP:0430150	Positive blood infectious agent test	10043	TOM1	OMIM:619510
HP:0430150	Positive blood infectious agent test	54790	TET2	OMIM:619126
HP:0430150	Positive blood infectious agent test	939	CD27	OMIM:615122
HP:0430150	Positive blood infectious agent test	28755	TRAC	OMIM:615387
HP:0430150	Positive blood infectious agent test	3702	ITK	OMIM:613011
HP:0430150	Positive blood infectious agent test	50619	DEF6	OMIM:619573
HP:0430150	Positive blood infectious agent test	27040	LAT	OMIM:617514
HP:0430150	Positive blood infectious agent test	5295	PIK3R1	OMIM:616005
HP:0430150	Positive blood infectious agent test	940	CD28	OMIM:620901
HP:0430150	Positive blood infectious agent test	5580	PRKCD	OMIM:615559
HP:0430150	Positive blood infectious agent test	22806	IKZF3	OMIM:619437
HP:0430150	Positive blood infectious agent test	5238	PGM3	OMIM:615816
HP:0430150	Positive blood infectious agent test	6789	STK4	OMIM:614868
HP:0430150	Positive blood infectious agent test	1991	ELANE	ORPHA:2686
HP:0430150	Positive blood infectious agent test	5966	REL	OMIM:619652
HP:0430150	Positive blood infectious agent test	7174	TPP2	OMIM:619220
HP:0430150	Positive blood infectious agent test	3560	IL2RB	OMIM:618495
HP:0430150	Positive blood infectious agent test	1503	CTPS1	OMIM:615897
HP:0033770	Gastric adenocarcinoma	324	APC	OMIM:619182
HP:0033770	Gastric adenocarcinoma	4437	MSH3	OMIM:617100
HP:0033777	Supernumerary cusp	2033	EP300	OMIM:613684
HP:0033777	Supernumerary cusp	2033	EP300	OMIM:180849
HP:0033777	Supernumerary cusp	2033	EP300	ORPHA:353284
HP:0033777	Supernumerary cusp	1387	CREBBP	OMIM:180849
HP:0033777	Supernumerary cusp	1387	CREBBP	ORPHA:353277
HP:0033777	Supernumerary cusp	1387	CREBBP	ORPHA:353281
HP:0033777	Supernumerary cusp	4750	NEK1	ORPHA:2751
HP:0033777	Supernumerary cusp	22856	CHSY1	OMIM:605282
HP:0033777	Supernumerary cusp	22856	CHSY1	ORPHA:363417
HP:0033777	Supernumerary cusp	4810	NHS	OMIM:302350
HP:0007648	Punctate cataract	10484	SEC23A	OMIM:607812
HP:0007648	Punctate cataract	3982	LIM2	OMIM:615277
HP:0007648	Punctate cataract	84816	RTN4IP1	OMIM:616732
HP:0007648	Punctate cataract	4094	MAF	OMIM:610202
HP:0007648	Punctate cataract	1415	CRYBB2	OMIM:601547
HP:0007648	Punctate cataract	80207	OPA3	ORPHA:67036
HP:0007648	Punctate cataract	3299	HSF4	OMIM:116800
HP:0007648	Punctate cataract	2512	FTL	OMIM:600886
HP:0007648	Punctate cataract	7439	BEST1	OMIM:193220
HP:0007648	Punctate cataract	1414	CRYBB1	OMIM:611544
HP:0007648	Punctate cataract	2703	GJA8	OMIM:116200
HP:0007648	Punctate cataract	7431	VIM	OMIM:116300
HP:0007648	Punctate cataract	2702	GJA5	OMIM:612474
HP:0007648	Punctate cataract	1420	CRYGC	OMIM:604307
HP:0007649	Congenital hypertrophy of retinal pigment epithelium	4595	MUTYH	ORPHA:247798
HP:0007649	Congenital hypertrophy of retinal pigment epithelium	324	APC	OMIM:175100
HP:0007649	Congenital hypertrophy of retinal pigment epithelium	324	APC	ORPHA:247806
HP:0007649	Congenital hypertrophy of retinal pigment epithelium	324	APC	ORPHA:261584
HP:0007649	Congenital hypertrophy of retinal pigment epithelium	324	APC	ORPHA:79665
HP:0007641	Dyschromatopsia	10059	DNM1L	OMIM:610708
HP:0007641	Dyschromatopsia	5950	RBP4	OMIM:615147
HP:0007641	Dyschromatopsia	10002	NR2E3	OMIM:611131
HP:0007641	Dyschromatopsia	4720	NDUFS2	OMIM:620569
HP:0007641	Dyschromatopsia	256471	MFSD8	OMIM:616170
HP:0007641	Dyschromatopsia	114902	C1QTNF5	ORPHA:67042
HP:0007641	Dyschromatopsia	50	ACO2	OMIM:616289
HP:0007641	Dyschromatopsia	80207	OPA3	ORPHA:67036
HP:0007641	Dyschromatopsia	2259	FGF14	ORPHA:98764
HP:0007641	Dyschromatopsia	5080	PAX6	ORPHA:250923
HP:0007641	Dyschromatopsia	2296	FOXC1	ORPHA:250923
HP:0007641	Dyschromatopsia	54765	TRIM44	ORPHA:250923
HP:0007641	Dyschromatopsia	5146	PDE6C	OMIM:613093
HP:0007641	Dyschromatopsia	91574	MTRFR	ORPHA:254930
HP:0007641	Dyschromatopsia	3617	IMPG1	OMIM:153870
HP:0007641	Dyschromatopsia	8842	PROM1	OMIM:608051
HP:0007641	Dyschromatopsia	8842	PROM1	ORPHA:1872
HP:0007641	Dyschromatopsia	84131	CEP78	OMIM:617236
HP:0007641	Dyschromatopsia	5149	PDE6H	OMIM:610024
HP:0007641	Dyschromatopsia	5428	POLG	OMIM:258450
HP:0007641	Dyschromatopsia	5428	POLG	ORPHA:254886
HP:0007641	Dyschromatopsia	84233	TMEM126A	OMIM:612989
HP:0007641	Dyschromatopsia	27349	MCAT	OMIM:620583
HP:0007641	Dyschromatopsia	611	OPN1SW	OMIM:190900
HP:0007641	Dyschromatopsia	6011	GRK1	ORPHA:75382
HP:0007641	Dyschromatopsia	6295	SAG	ORPHA:75382
HP:0007641	Dyschromatopsia	3000	GUCY2D	OMIM:601777
HP:0007641	Dyschromatopsia	3000	GUCY2D	ORPHA:1872
HP:0007641	Dyschromatopsia	3000	GUCY2D	ORPHA:75377
HP:0007641	Dyschromatopsia	54714	CNGB3	OMIM:262300
HP:0007641	Dyschromatopsia	7084	TK2	ORPHA:254886
HP:0007641	Dyschromatopsia	51102	MECR	OMIM:620629
HP:0007641	Dyschromatopsia	22926	ATF6	ORPHA:1872
HP:0007641	Dyschromatopsia	64802	NMNAT1	ORPHA:1872
HP:0007641	Dyschromatopsia	84839	RAX2	ORPHA:1872
HP:0007641	Dyschromatopsia	57096	RPGRIP1	ORPHA:1872
HP:0007641	Dyschromatopsia	24	ABCA4	ORPHA:1872
HP:0007641	Dyschromatopsia	1261	CNGA3	ORPHA:1872
HP:0007641	Dyschromatopsia	92211	CDHR1	ORPHA:1872
HP:0007641	Dyschromatopsia	5956	OPN1LW	ORPHA:1872
HP:0007641	Dyschromatopsia	5961	PRPH2	ORPHA:1872
HP:0007641	Dyschromatopsia	5961	PRPH2	ORPHA:75377
HP:0007641	Dyschromatopsia	755	CFAP410	ORPHA:1872
HP:0007641	Dyschromatopsia	778	CACNA1F	ORPHA:1872
HP:0007641	Dyschromatopsia	8754	ADAM9	ORPHA:1872
HP:0007641	Dyschromatopsia	22999	RIMS1	ORPHA:1872
HP:0007641	Dyschromatopsia	128338	DRAM2	ORPHA:1872
HP:0007641	Dyschromatopsia	6103	RPGR	ORPHA:1872
HP:0007641	Dyschromatopsia	2652	OPN1MW	ORPHA:1872
HP:0007641	Dyschromatopsia	1406	CRX	ORPHA:1872
HP:0007641	Dyschromatopsia	9094	UNC119	ORPHA:1872
HP:0007641	Dyschromatopsia	93589	CACNA2D4	ORPHA:1872
HP:0007641	Dyschromatopsia	2978	GUCA1A	ORPHA:1872
HP:0007641	Dyschromatopsia	2978	GUCA1A	ORPHA:75377
HP:0007641	Dyschromatopsia	282809	POC1B	ORPHA:1872
HP:0007641	Dyschromatopsia	64218	SEMA4A	ORPHA:1872
HP:0007641	Dyschromatopsia	83394	PITPNM3	ORPHA:1872
HP:0007641	Dyschromatopsia	23093	TTLL5	ORPHA:1872
HP:0007641	Dyschromatopsia	83723	TLCD3B	ORPHA:1872
HP:0007641	Dyschromatopsia	157657	CFAP418	ORPHA:1872
HP:0007641	Dyschromatopsia	23746	AIPL1	ORPHA:1872
HP:0007641	Dyschromatopsia	9364	RAB28	ORPHA:1872
HP:0007641	Dyschromatopsia	22880	MORC2	ORPHA:466768
HP:0007641	Dyschromatopsia	7439	BEST1	OMIM:193220
HP:0007641	Dyschromatopsia	10939	AFG3L2	OMIM:618977
HP:0007641	Dyschromatopsia	4976	OPA1	OMIM:125250
HP:0007642	Congenital stationary night blindness	4646	MYO6	OMIM:607821
HP:0007642	Congenital stationary night blindness	440435	GPR179	OMIM:614565
HP:0007642	Congenital stationary night blindness	345193	LRIT3	OMIM:615058
HP:0007642	Congenital stationary night blindness	6011	GRK1	OMIM:613411
HP:0007642	Congenital stationary night blindness	6011	GRK1	ORPHA:75382
HP:0007642	Congenital stationary night blindness	2779	GNAT1	OMIM:616389
HP:0007642	Congenital stationary night blindness	2779	GNAT1	OMIM:610444
HP:0007642	Congenital stationary night blindness	9187	SLC24A1	OMIM:613830
HP:0007642	Congenital stationary night blindness	4308	TRPM1	OMIM:613216
HP:0007642	Congenital stationary night blindness	6010	RHO	OMIM:610445
HP:0007642	Congenital stationary night blindness	60506	NYX	OMIM:310500
HP:0007642	Congenital stationary night blindness	2263	FGFR2	ORPHA:313855
HP:0007642	Congenital stationary night blindness	57010	CABP4	OMIM:610427
HP:0007642	Congenital stationary night blindness	778	CACNA1F	OMIM:300071
HP:0007642	Congenital stationary night blindness	5158	PDE6B	OMIM:163500
HP:0007642	Congenital stationary night blindness	6295	SAG	ORPHA:75382
HP:0007642	Congenital stationary night blindness	6295	SAG	OMIM:258100
HP:0007642	Congenital stationary night blindness	2916	GRM6	OMIM:257270
HP:0007642	Congenital stationary night blindness	83696	TRAPPC9	ORPHA:352530
HP:0007642	Congenital stationary night blindness	93589	CACNA2D4	ORPHA:215
HP:0007642	Congenital stationary night blindness	2784	GNB3	ORPHA:215
HP:0007642	Congenital stationary night blindness	5959	RDH5	OMIM:136880
HP:0007642	Congenital stationary night blindness	6017	RLBP1	OMIM:136880
HP:0007642	Congenital stationary night blindness	5961	PRPH2	OMIM:136880
HP:0007643	Peripheral tractional retinal detachment	1462	VCAN	OMIM:143200
HP:0007737	Bone spicule pigmentation of the retina	7399	USH2A	OMIM:613809
HP:0007737	Bone spicule pigmentation of the retina	7399	USH2A	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	7287	TULP1	OMIM:600132
HP:0007737	Bone spicule pigmentation of the retina	7287	TULP1	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	7401	CLRN1	OMIM:614180
HP:0007737	Bone spicule pigmentation of the retina	7401	CLRN1	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	26121	PRPF31	OMIM:600138
HP:0007737	Bone spicule pigmentation of the retina	26121	PRPF31	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	10594	PRPF8	OMIM:600059
HP:0007737	Bone spicule pigmentation of the retina	10594	PRPF8	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	92840	REEP6	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	92840	REEP6	OMIM:617304
HP:0007737	Bone spicule pigmentation of the retina	6094	ROM1	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	6017	RLBP1	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	6017	RLBP1	ORPHA:85128
HP:0007737	Bone spicule pigmentation of the retina	6017	RLBP1	OMIM:607476
HP:0007737	Bone spicule pigmentation of the retina	24	ABCA4	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	24	ABCA4	ORPHA:1872
HP:0007737	Bone spicule pigmentation of the retina	24	ABCA4	OMIM:601718
HP:0007737	Bone spicule pigmentation of the retina	130557	ZNF513	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	130557	ZNF513	OMIM:613617
HP:0007737	Bone spicule pigmentation of the retina	582	BBS1	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	582	BBS1	OMIM:209900
HP:0007737	Bone spicule pigmentation of the retina	92211	CDHR1	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	92211	CDHR1	ORPHA:1872
HP:0007737	Bone spicule pigmentation of the retina	23568	ARL2BP	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	6121	RPE65	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	6121	RPE65	ORPHA:364055
HP:0007737	Bone spicule pigmentation of the retina	6121	RPE65	OMIM:618697
HP:0007737	Bone spicule pigmentation of the retina	54806	AHI1	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	6101	RP1	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	6101	RP1	OMIM:180100
HP:0007737	Bone spicule pigmentation of the retina	3419	IDH3A	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	3419	IDH3A	OMIM:619007
HP:0007737	Bone spicule pigmentation of the retina	4751	NEK2	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	346007	EYS	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	346007	EYS	OMIM:602772
HP:0007737	Bone spicule pigmentation of the retina	8100	IFT88	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	23020	SNRNP200	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	23020	SNRNP200	OMIM:610359
HP:0007737	Bone spicule pigmentation of the retina	762	CA4	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	138050	HGSNAT	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	138050	HGSNAT	OMIM:616544
HP:0007737	Bone spicule pigmentation of the retina	196	AHR	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	3614	IMPDH1	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	3614	IMPDH1	OMIM:180105
HP:0007737	Bone spicule pigmentation of the retina	123016	TTC8	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	123016	TTC8	OMIM:613464
HP:0007737	Bone spicule pigmentation of the retina	6103	RPGR	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	6103	RPGR	ORPHA:1872
HP:0007737	Bone spicule pigmentation of the retina	6103	RPGR	OMIM:300029
HP:0007737	Bone spicule pigmentation of the retina	1406	CRX	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	1406	CRX	ORPHA:1872
HP:0007737	Bone spicule pigmentation of the retina	1406	CRX	OMIM:120970
HP:0007737	Bone spicule pigmentation of the retina	5148	PDE6G	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	5148	PDE6G	OMIM:613582
HP:0007737	Bone spicule pigmentation of the retina	26160	IFT172	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	583	BBS2	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	4117	MAK	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	4117	MAK	OMIM:614181
HP:0007737	Bone spicule pigmentation of the retina	25794	FSCN2	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	25794	FSCN2	OMIM:607921
HP:0007737	Bone spicule pigmentation of the retina	375298	CERKL	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	3420	IDH3B	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	57670	KIAA1549	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	57670	KIAA1549	OMIM:618613
HP:0007737	Bone spicule pigmentation of the retina	7275	TUB	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	24148	PRPF6	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	24148	PRPF6	OMIM:613983
HP:0007737	Bone spicule pigmentation of the retina	23418	CRB1	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	23418	CRB1	OMIM:172870
HP:0007737	Bone spicule pigmentation of the retina	23418	CRB1	OMIM:600105
HP:0007737	Bone spicule pigmentation of the retina	10461	MERTK	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	57709	SLC7A14	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	57709	SLC7A14	OMIM:615725
HP:0007737	Bone spicule pigmentation of the retina	768206	PRCD	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	768206	PRCD	OMIM:610599
HP:0007737	Bone spicule pigmentation of the retina	23370	ARHGEF18	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	5949	RBP3	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	5949	RBP3	OMIM:615233
HP:0007737	Bone spicule pigmentation of the retina	6010	RHO	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	6010	RHO	OMIM:613731
HP:0007737	Bone spicule pigmentation of the retina	6010	RHO	OMIM:610445
HP:0007737	Bone spicule pigmentation of the retina	6100	RP9	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	6100	RP9	OMIM:180104
HP:0007737	Bone spicule pigmentation of the retina	10002	NR2E3	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	9227	LRAT	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	9227	LRAT	ORPHA:364055
HP:0007737	Bone spicule pigmentation of the retina	84140	FAM161A	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	84140	FAM161A	OMIM:606068
HP:0007737	Bone spicule pigmentation of the retina	55812	SPATA7	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	55812	SPATA7	ORPHA:364055
HP:0007737	Bone spicule pigmentation of the retina	55624	POMGNT1	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	55624	POMGNT1	OMIM:617123
HP:0007737	Bone spicule pigmentation of the retina	79797	ZNF408	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	79797	ZNF408	OMIM:616469
HP:0007737	Bone spicule pigmentation of the retina	403	ARL3	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	403	ARL3	OMIM:618173
HP:0007737	Bone spicule pigmentation of the retina	5145	PDE6A	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	5145	PDE6A	OMIM:613810
HP:0007737	Bone spicule pigmentation of the retina	10210	TOPORS	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	8842	PROM1	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	8842	PROM1	OMIM:612095
HP:0007737	Bone spicule pigmentation of the retina	8842	PROM1	ORPHA:1872
HP:0007737	Bone spicule pigmentation of the retina	9128	PRPF4	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	145226	RDH12	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	145226	RDH12	OMIM:612712
HP:0007737	Bone spicule pigmentation of the retina	50939	IMPG2	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	50939	IMPG2	OMIM:613581
HP:0007737	Bone spicule pigmentation of the retina	57545	CC2D2A	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	8481	OFD1	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	49855	SCAPER	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	49855	SCAPER	OMIM:618195
HP:0007737	Bone spicule pigmentation of the retina	9742	IFT140	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	9742	IFT140	OMIM:617781
HP:0007737	Bone spicule pigmentation of the retina	2979	GUCA1B	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	1259	CNGA1	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	1259	CNGA1	OMIM:613756
HP:0007737	Bone spicule pigmentation of the retina	1258	CNGB1	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	1258	CNGB1	OMIM:613767
HP:0007737	Bone spicule pigmentation of the retina	60509	AGBL5	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	60509	AGBL5	OMIM:617023
HP:0007737	Bone spicule pigmentation of the retina	5961	PRPH2	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	5961	PRPH2	ORPHA:1872
HP:0007737	Bone spicule pigmentation of the retina	388939	PCARE	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	388939	PCARE	OMIM:613428
HP:0007737	Bone spicule pigmentation of the retina	7439	BEST1	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	9785	DHX38	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	9785	DHX38	OMIM:618220
HP:0007737	Bone spicule pigmentation of the retina	5995	RGR	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	9129	PRPF3	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	55975	KLHL7	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	3617	IMPG1	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	94137	RP1L1	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	94137	RP1L1	OMIM:618826
HP:0007737	Bone spicule pigmentation of the retina	5158	PDE6B	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	5158	PDE6B	OMIM:613801
HP:0007737	Bone spicule pigmentation of the retina	6102	RP2	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	55857	KIZ	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	64218	SEMA4A	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	64218	SEMA4A	ORPHA:1872
HP:0007737	Bone spicule pigmentation of the retina	64218	SEMA4A	OMIM:610283
HP:0007737	Bone spicule pigmentation of the retina	4901	NRL	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	4901	NRL	OMIM:613750
HP:0007737	Bone spicule pigmentation of the retina	157657	CFAP418	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	157657	CFAP418	OMIM:614500
HP:0007737	Bone spicule pigmentation of the retina	157657	CFAP418	ORPHA:1872
HP:0007737	Bone spicule pigmentation of the retina	84100	ARL6	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	84100	ARL6	OMIM:209900
HP:0007737	Bone spicule pigmentation of the retina	6295	SAG	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	6295	SAG	OMIM:620228
HP:0007737	Bone spicule pigmentation of the retina	79947	DHDDS	ORPHA:791
HP:0007737	Bone spicule pigmentation of the retina	1121	CHM	OMIM:303100
HP:0007737	Bone spicule pigmentation of the retina	54903	MKS1	OMIM:615990
HP:0007737	Bone spicule pigmentation of the retina	22901	ARSG	OMIM:618144
HP:0007737	Bone spicule pigmentation of the retina	54585	LZTFL1	OMIM:615994
HP:0007737	Bone spicule pigmentation of the retina	84839	RAX2	OMIM:620102
HP:0007737	Bone spicule pigmentation of the retina	84839	RAX2	ORPHA:1872
HP:0007737	Bone spicule pigmentation of the retina	3000	GUCY2D	OMIM:601777
HP:0007737	Bone spicule pigmentation of the retina	3000	GUCY2D	ORPHA:1872
HP:0007737	Bone spicule pigmentation of the retina	2916	GRM6	OMIM:257270
HP:0007737	Bone spicule pigmentation of the retina	167691	LCA5	ORPHA:364055
HP:0007737	Bone spicule pigmentation of the retina	3098	HK1	OMIM:617460
HP:0007737	Bone spicule pigmentation of the retina	83552	MFRP	OMIM:611040
HP:0007737	Bone spicule pigmentation of the retina	755	CFAP410	OMIM:617547
HP:0007737	Bone spicule pigmentation of the retina	755	CFAP410	ORPHA:1872
HP:0007737	Bone spicule pigmentation of the retina	22926	ATF6	ORPHA:1872
HP:0007737	Bone spicule pigmentation of the retina	64802	NMNAT1	ORPHA:1872
HP:0007737	Bone spicule pigmentation of the retina	64802	NMNAT1	OMIM:608553
HP:0007737	Bone spicule pigmentation of the retina	57096	RPGRIP1	ORPHA:1872
HP:0007737	Bone spicule pigmentation of the retina	57096	RPGRIP1	OMIM:613826
HP:0007737	Bone spicule pigmentation of the retina	57096	RPGRIP1	OMIM:608194
HP:0007737	Bone spicule pigmentation of the retina	1261	CNGA3	ORPHA:1872
HP:0007737	Bone spicule pigmentation of the retina	5956	OPN1LW	ORPHA:1872
HP:0007737	Bone spicule pigmentation of the retina	778	CACNA1F	ORPHA:1872
HP:0007737	Bone spicule pigmentation of the retina	8754	ADAM9	ORPHA:1872
HP:0007737	Bone spicule pigmentation of the retina	22999	RIMS1	ORPHA:1872
HP:0007737	Bone spicule pigmentation of the retina	128338	DRAM2	ORPHA:1872
HP:0007737	Bone spicule pigmentation of the retina	2652	OPN1MW	ORPHA:1872
HP:0007737	Bone spicule pigmentation of the retina	9094	UNC119	ORPHA:1872
HP:0007737	Bone spicule pigmentation of the retina	93589	CACNA2D4	ORPHA:1872
HP:0007737	Bone spicule pigmentation of the retina	2978	GUCA1A	ORPHA:1872
HP:0007737	Bone spicule pigmentation of the retina	282809	POC1B	ORPHA:1872
HP:0007737	Bone spicule pigmentation of the retina	282809	POC1B	OMIM:615973
HP:0007737	Bone spicule pigmentation of the retina	83394	PITPNM3	ORPHA:1872
HP:0007737	Bone spicule pigmentation of the retina	23093	TTLL5	ORPHA:1872
HP:0007737	Bone spicule pigmentation of the retina	83723	TLCD3B	ORPHA:1872
HP:0007737	Bone spicule pigmentation of the retina	23746	AIPL1	ORPHA:1872
HP:0007737	Bone spicule pigmentation of the retina	9364	RAB28	ORPHA:1872
HP:0007737	Bone spicule pigmentation of the retina	28982	FLVCR1	ORPHA:88628
HP:0007737	Bone spicule pigmentation of the retina	28982	FLVCR1	OMIM:609033
HP:0007737	Bone spicule pigmentation of the retina	50484	RRM2B	OMIM:268315
HP:0007737	Bone spicule pigmentation of the retina	112752	IFT43	OMIM:617871
HP:0007737	Bone spicule pigmentation of the retina	51109	RDH11	OMIM:616108
HP:0007737	Bone spicule pigmentation of the retina	79140	CCDC28B	OMIM:209900
HP:0007737	Bone spicule pigmentation of the retina	26504	CNNM4	OMIM:217080
HP:0007737	Bone spicule pigmentation of the retina	23761	PISD	OMIM:618889
HP:0007737	Bone spicule pigmentation of the retina	157680	VPS13B	OMIM:216550
HP:0007737	Bone spicule pigmentation of the retina	23155	CLCC1	OMIM:609913
HP:0007737	Bone spicule pigmentation of the retina	129880	BBS5	OMIM:615983
HP:0007737	Bone spicule pigmentation of the retina	27241	BBS9	OMIM:615986
HP:0007737	Bone spicule pigmentation of the retina	51095	TRNT1	OMIM:616959
HP:0007646	Absent lower eyelashes	5965	RECQL	OMIM:620370
HP:0007646	Absent lower eyelashes	117581	TWIST2	OMIM:227260
HP:0007646	Absent lower eyelashes	10262	SF3B4	OMIM:154400
HP:0033785	Enamel agenesis	5885	RAD21	OMIM:614701
HP:0033785	Enamel agenesis	26504	CNNM4	OMIM:217080
HP:0033786	Hypomature enamel	10686	CLDN16	OMIM:248250
HP:0033786	Hypomature enamel	9313	MMP20	OMIM:612529
HP:0025230	Tendonitis	64127	NOD2	OMIM:186580
HP:0025231	Abnormal synovial bursa morphology	2131	EXT1	ORPHA:321
HP:0025231	Abnormal synovial bursa morphology	2132	EXT2	ORPHA:321
HP:0025231	Abnormal synovial bursa morphology	165	AEBP1	ORPHA:536532
HP:0025231	Abnormal synovial bursa morphology	165	AEBP1	OMIM:618000
HP:0025231	Abnormal synovial bursa morphology	6711	SPTBN1	OMIM:619475
HP:0025232	Bursitis	2131	EXT1	ORPHA:321
HP:0025232	Bursitis	2132	EXT2	ORPHA:321
HP:0025232	Bursitis	165	AEBP1	ORPHA:536532
HP:0025232	Bursitis	165	AEBP1	OMIM:618000
HP:0025232	Bursitis	6711	SPTBN1	OMIM:619475
HP:0025233	Sleep paralysis	3060	HCRT	OMIM:161400
HP:0025233	Sleep paralysis	3060	HCRT	ORPHA:2073
HP:0025233	Sleep paralysis	4340	MOG	OMIM:614250
HP:0025233	Sleep paralysis	4340	MOG	ORPHA:2073
HP:0025233	Sleep paralysis	1786	DNMT1	OMIM:604121
HP:0025233	Sleep paralysis	1512	CTSH	ORPHA:2073
HP:0025233	Sleep paralysis	5032	P2RY11	ORPHA:2073
HP:0025233	Sleep paralysis	3119	HLA-DQB1	ORPHA:2073
HP:0025233	Sleep paralysis	22891	ZNF365	ORPHA:2073
HP:0025233	Sleep paralysis	7292	TNFSF4	ORPHA:2073
HP:0025233	Sleep paralysis	3123	HLA-DRB1	ORPHA:2073
HP:0025233	Sleep paralysis	9881	TRANK1	ORPHA:33543
HP:0025234	Parasomnia	6709	SPTAN1	OMIM:620528
HP:0025234	Parasomnia	51142	CHCHD2	OMIM:616710
HP:0025234	Parasomnia	2512	FTL	OMIM:615604
HP:0025234	Parasomnia	54832	VPS13C	ORPHA:2828
HP:0025234	Parasomnia	11315	PARK7	ORPHA:2828
HP:0025234	Parasomnia	7345	UCHL1	ORPHA:2828
HP:0025234	Parasomnia	27429	HTRA2	ORPHA:2828
HP:0025234	Parasomnia	120892	LRRK2	ORPHA:2828
HP:0025234	Parasomnia	9829	DNAJC6	ORPHA:2828
HP:0025234	Parasomnia	6622	SNCA	ORPHA:2828
HP:0025234	Parasomnia	5420	PODXL	ORPHA:2828
HP:0025234	Parasomnia	65018	PINK1	ORPHA:2828
HP:0025234	Parasomnia	8867	SYNJ1	ORPHA:2828
HP:0025234	Parasomnia	5071	PRKN	ORPHA:2828
HP:0025234	Parasomnia	7555	CNBP	ORPHA:606
HP:0025234	Parasomnia	4747	NEFL	ORPHA:101085
HP:0025234	Parasomnia	2395	FXN	ORPHA:95
HP:0025234	Parasomnia	9927	MFN2	ORPHA:99947
HP:0025234	Parasomnia	83550	GPR101	ORPHA:963
HP:0025234	Parasomnia	9049	AIP	ORPHA:963
HP:0025234	Parasomnia	6314	ATXN7	ORPHA:94147
HP:0025234	Parasomnia	5524	PTPA	OMIM:620482
HP:0025234	Parasomnia	1786	DNMT1	OMIM:604121
HP:0025234	Parasomnia	9881	TRANK1	ORPHA:33543
HP:0025234	Parasomnia	7021	TFAP2B	OMIM:169100
HP:0025234	Parasomnia	1137	CHRNA4	ORPHA:98784
HP:0025234	Parasomnia	1135	CHRNA2	ORPHA:98784
HP:0025234	Parasomnia	57010	CABP4	ORPHA:98784
HP:0025234	Parasomnia	1141	CHRNB2	ORPHA:98784
HP:0025234	Parasomnia	57582	KCNT1	ORPHA:98784
HP:0025234	Parasomnia	1392	CRH	ORPHA:98784
HP:0025234	Parasomnia	9681	DEPDC5	ORPHA:98784
HP:0025234	Parasomnia	1512	CTSH	ORPHA:2073
HP:0025234	Parasomnia	5032	P2RY11	ORPHA:2073
HP:0025234	Parasomnia	4340	MOG	ORPHA:2073
HP:0025234	Parasomnia	3119	HLA-DQB1	ORPHA:2073
HP:0025234	Parasomnia	3060	HCRT	ORPHA:2073
HP:0025234	Parasomnia	22891	ZNF365	ORPHA:2073
HP:0025234	Parasomnia	7292	TNFSF4	ORPHA:2073
HP:0025234	Parasomnia	3123	HLA-DRB1	ORPHA:2073
HP:0025234	Parasomnia	6492	SIM1	ORPHA:398079
HP:0025234	Parasomnia	54551	MAGEL2	ORPHA:398069
HP:0025234	Parasomnia	10165	SLC25A13	ORPHA:247585
HP:0025234	Parasomnia	6608	SMO	OMIM:241800
HP:0025234	Parasomnia	123263	MTFMT	OMIM:614947
HP:0025235	NREM parasomnia	1137	CHRNA4	ORPHA:98784
HP:0025235	NREM parasomnia	1135	CHRNA2	ORPHA:98784
HP:0025235	NREM parasomnia	57010	CABP4	ORPHA:98784
HP:0025235	NREM parasomnia	1141	CHRNB2	ORPHA:98784
HP:0025235	NREM parasomnia	57582	KCNT1	ORPHA:98784
HP:0025235	NREM parasomnia	1392	CRH	ORPHA:98784
HP:0025235	NREM parasomnia	9681	DEPDC5	ORPHA:98784
HP:0025235	NREM parasomnia	1512	CTSH	ORPHA:2073
HP:0025235	NREM parasomnia	5032	P2RY11	ORPHA:2073
HP:0025235	NREM parasomnia	4340	MOG	ORPHA:2073
HP:0025235	NREM parasomnia	3119	HLA-DQB1	ORPHA:2073
HP:0025235	NREM parasomnia	3060	HCRT	ORPHA:2073
HP:0025235	NREM parasomnia	22891	ZNF365	ORPHA:2073
HP:0025235	NREM parasomnia	7292	TNFSF4	ORPHA:2073
HP:0025235	NREM parasomnia	3123	HLA-DRB1	ORPHA:2073
HP:0025235	NREM parasomnia	10165	SLC25A13	ORPHA:247585
HP:0025235	NREM parasomnia	6608	SMO	OMIM:241800
HP:0025235	NREM parasomnia	123263	MTFMT	OMIM:614947
HP:0025236	Somnambulism	1137	CHRNA4	ORPHA:98784
HP:0025236	Somnambulism	1135	CHRNA2	ORPHA:98784
HP:0025236	Somnambulism	57010	CABP4	ORPHA:98784
HP:0025236	Somnambulism	1141	CHRNB2	ORPHA:98784
HP:0025236	Somnambulism	57582	KCNT1	ORPHA:98784
HP:0025236	Somnambulism	1392	CRH	ORPHA:98784
HP:0025236	Somnambulism	9681	DEPDC5	ORPHA:98784
HP:0025237	Confusional arousal	6492	SIM1	ORPHA:398079
HP:0025237	Confusional arousal	1137	CHRNA4	ORPHA:98784
HP:0025237	Confusional arousal	1135	CHRNA2	ORPHA:98784
HP:0025237	Confusional arousal	57010	CABP4	ORPHA:98784
HP:0025237	Confusional arousal	1141	CHRNB2	ORPHA:98784
HP:0025237	Confusional arousal	57582	KCNT1	ORPHA:98784
HP:0025237	Confusional arousal	1392	CRH	ORPHA:98784
HP:0025237	Confusional arousal	9681	DEPDC5	ORPHA:98784
HP:0025237	Confusional arousal	54551	MAGEL2	ORPHA:398069
HP:0025238	Foot pain	1298	COL9A2	OMIM:600204
HP:0025238	Foot pain	9927	MFN2	ORPHA:99947
HP:0025238	Foot pain	3852	KRT5	ORPHA:79400
HP:0025238	Foot pain	3861	KRT14	ORPHA:79400
HP:0007650	Progressive ophthalmoplegia	64221	ROBO3	OMIM:607313
HP:0007651	Ectropion of lower eyelids	1723	DHODH	ORPHA:246
HP:0007651	Ectropion of lower eyelids	6045	RNF2	OMIM:619460
HP:0007651	Ectropion of lower eyelids	1500	CTNND1	OMIM:617681
HP:0007651	Ectropion of lower eyelids	1500	CTNND1	ORPHA:1997
HP:0007651	Ectropion of lower eyelids	1748	DLX4	OMIM:616788
HP:0007651	Ectropion of lower eyelids	23394	ADNP	OMIM:615873
HP:0007651	Ectropion of lower eyelids	1954	MEGF8	OMIM:614976
HP:0007651	Ectropion of lower eyelids	999	CDH1	OMIM:119580
HP:0007651	Ectropion of lower eyelids	999	CDH1	ORPHA:1997
HP:0007651	Ectropion of lower eyelids	26834	RNU4-2	OMIM:620851
HP:0007651	Ectropion of lower eyelids	2202	EFEMP1	OMIM:620780
HP:0007924	Slow decrease in visual acuity	10059	DNM1L	OMIM:610708
HP:0007924	Slow decrease in visual acuity	7045	TGFBI	ORPHA:98960
HP:0007924	Slow decrease in visual acuity	7045	TGFBI	ORPHA:98964
HP:0007924	Slow decrease in visual acuity	79152	FA2H	ORPHA:329308
HP:0007924	Slow decrease in visual acuity	84839	RAX2	OMIM:610381
HP:0007924	Slow decrease in visual acuity	94137	RP1L1	OMIM:613587
HP:0007924	Slow decrease in visual acuity	8314	BAP1	ORPHA:2495
HP:0007924	Slow decrease in visual acuity	4771	NF2	ORPHA:2495
HP:0007924	Slow decrease in visual acuity	6598	SMARCB1	ORPHA:2495
HP:0007924	Slow decrease in visual acuity	5155	PDGFB	ORPHA:2495
HP:0007924	Slow decrease in visual acuity	84231	TRAF7	ORPHA:2495
HP:0007924	Slow decrease in visual acuity	6608	SMO	ORPHA:2495
HP:0007924	Slow decrease in visual acuity	207	AKT1	ORPHA:2495
HP:0007924	Slow decrease in visual acuity	5290	PIK3CA	ORPHA:2495
HP:0007924	Slow decrease in visual acuity	7015	TERT	ORPHA:2495
HP:0007924	Slow decrease in visual acuity	51684	SUFU	ORPHA:2495
HP:0007924	Slow decrease in visual acuity	6605	SMARCE1	ORPHA:2495
HP:0007924	Slow decrease in visual acuity	9927	MFN2	OMIM:601152
HP:0007924	Slow decrease in visual acuity	84277	DNAJC30	ORPHA:104
HP:0007924	Slow decrease in visual acuity	4535	MT-ND1	ORPHA:104
HP:0007924	Slow decrease in visual acuity	4536	MT-ND2	ORPHA:104
HP:0007924	Slow decrease in visual acuity	4538	MT-ND4	ORPHA:104
HP:0007924	Slow decrease in visual acuity	4720	NDUFS2	ORPHA:104
HP:0007924	Slow decrease in visual acuity	4512	MT-CO1	ORPHA:104
HP:0007924	Slow decrease in visual acuity	4514	MT-CO3	ORPHA:104
HP:0007924	Slow decrease in visual acuity	4519	MT-CYB	ORPHA:104
HP:0007924	Slow decrease in visual acuity	4508	MT-ATP6	ORPHA:104
HP:0007924	Slow decrease in visual acuity	4540	MT-ND5	ORPHA:104
HP:0007924	Slow decrease in visual acuity	4541	MT-ND6	ORPHA:104
HP:0007924	Slow decrease in visual acuity	4539	MT-ND4L	ORPHA:104
HP:0007924	Slow decrease in visual acuity	5961	PRPH2	ORPHA:75377
HP:0007924	Slow decrease in visual acuity	3000	GUCY2D	ORPHA:75377
HP:0007924	Slow decrease in visual acuity	2978	GUCA1A	ORPHA:75377
HP:0007924	Slow decrease in visual acuity	1499	CTNNB1	ORPHA:54595
HP:0007924	Slow decrease in visual acuity	673	BRAF	ORPHA:54595
HP:0000662	Nyctalopia	7287	TULP1	OMIM:600132
HP:0000662	Nyctalopia	7287	TULP1	ORPHA:791
HP:0000662	Nyctalopia	7287	TULP1	OMIM:613843
HP:0000662	Nyctalopia	26121	PRPF31	OMIM:600138
HP:0000662	Nyctalopia	26121	PRPF31	ORPHA:791
HP:0000662	Nyctalopia	6247	RS1	ORPHA:792
HP:0000662	Nyctalopia	92840	REEP6	ORPHA:791
HP:0000662	Nyctalopia	92840	REEP6	OMIM:617304
HP:0000662	Nyctalopia	6094	ROM1	ORPHA:791
HP:0000662	Nyctalopia	6094	ROM1	OMIM:608133
HP:0000662	Nyctalopia	6094	ROM1	OMIM:268000
HP:0000662	Nyctalopia	6017	RLBP1	ORPHA:791
HP:0000662	Nyctalopia	6017	RLBP1	ORPHA:85128
HP:0000662	Nyctalopia	6017	RLBP1	ORPHA:52427
HP:0000662	Nyctalopia	6017	RLBP1	OMIM:607476
HP:0000662	Nyctalopia	6017	RLBP1	OMIM:607475
HP:0000662	Nyctalopia	6017	RLBP1	OMIM:136880
HP:0000662	Nyctalopia	7401	CLRN1	ORPHA:791
HP:0000662	Nyctalopia	7401	CLRN1	OMIM:268000
HP:0000662	Nyctalopia	7401	CLRN1	OMIM:276902
HP:0000662	Nyctalopia	7401	CLRN1	OMIM:614180
HP:0000662	Nyctalopia	7401	CLRN1	ORPHA:231183
HP:0000662	Nyctalopia	24	ABCA4	ORPHA:791
HP:0000662	Nyctalopia	24	ABCA4	ORPHA:827
HP:0000662	Nyctalopia	24	ABCA4	ORPHA:1872
HP:0000662	Nyctalopia	24	ABCA4	OMIM:601718
HP:0000662	Nyctalopia	130557	ZNF513	ORPHA:791
HP:0000662	Nyctalopia	130557	ZNF513	OMIM:613617
HP:0000662	Nyctalopia	582	BBS1	ORPHA:791
HP:0000662	Nyctalopia	582	BBS1	OMIM:209900
HP:0000662	Nyctalopia	582	BBS1	ORPHA:110
HP:0000662	Nyctalopia	92211	CDHR1	ORPHA:791
HP:0000662	Nyctalopia	92211	CDHR1	ORPHA:1872
HP:0000662	Nyctalopia	92211	CDHR1	OMIM:613660
HP:0000662	Nyctalopia	23568	ARL2BP	ORPHA:791
HP:0000662	Nyctalopia	6121	RPE65	ORPHA:791
HP:0000662	Nyctalopia	6121	RPE65	ORPHA:364055
HP:0000662	Nyctalopia	6121	RPE65	OMIM:204100
HP:0000662	Nyctalopia	6121	RPE65	OMIM:613794
HP:0000662	Nyctalopia	54806	AHI1	ORPHA:791
HP:0000662	Nyctalopia	6101	RP1	ORPHA:791
HP:0000662	Nyctalopia	6101	RP1	OMIM:180100
HP:0000662	Nyctalopia	3419	IDH3A	ORPHA:791
HP:0000662	Nyctalopia	3419	IDH3A	OMIM:619007
HP:0000662	Nyctalopia	4751	NEK2	ORPHA:791
HP:0000662	Nyctalopia	346007	EYS	ORPHA:791
HP:0000662	Nyctalopia	346007	EYS	OMIM:602772
HP:0000662	Nyctalopia	8100	IFT88	ORPHA:791
HP:0000662	Nyctalopia	23020	SNRNP200	ORPHA:791
HP:0000662	Nyctalopia	23020	SNRNP200	OMIM:610359
HP:0000662	Nyctalopia	762	CA4	ORPHA:791
HP:0000662	Nyctalopia	138050	HGSNAT	ORPHA:791
HP:0000662	Nyctalopia	138050	HGSNAT	OMIM:616544
HP:0000662	Nyctalopia	196	AHR	ORPHA:791
HP:0000662	Nyctalopia	3614	IMPDH1	ORPHA:791
HP:0000662	Nyctalopia	3614	IMPDH1	OMIM:180105
HP:0000662	Nyctalopia	123016	TTC8	ORPHA:791
HP:0000662	Nyctalopia	123016	TTC8	OMIM:613464
HP:0000662	Nyctalopia	123016	TTC8	ORPHA:110
HP:0000662	Nyctalopia	6103	RPGR	ORPHA:791
HP:0000662	Nyctalopia	6103	RPGR	ORPHA:1872
HP:0000662	Nyctalopia	6103	RPGR	OMIM:304020
HP:0000662	Nyctalopia	6103	RPGR	OMIM:300029
HP:0000662	Nyctalopia	1406	CRX	ORPHA:791
HP:0000662	Nyctalopia	1406	CRX	OMIM:268000
HP:0000662	Nyctalopia	1406	CRX	ORPHA:1872
HP:0000662	Nyctalopia	1406	CRX	OMIM:120970
HP:0000662	Nyctalopia	5148	PDE6G	ORPHA:791
HP:0000662	Nyctalopia	5148	PDE6G	OMIM:268000
HP:0000662	Nyctalopia	26160	IFT172	ORPHA:791
HP:0000662	Nyctalopia	26160	IFT172	OMIM:615630
HP:0000662	Nyctalopia	26160	IFT172	OMIM:619471
HP:0000662	Nyctalopia	26160	IFT172	ORPHA:110
HP:0000662	Nyctalopia	26160	IFT172	OMIM:616394
HP:0000662	Nyctalopia	583	BBS2	ORPHA:791
HP:0000662	Nyctalopia	583	BBS2	ORPHA:110
HP:0000662	Nyctalopia	583	BBS2	OMIM:615981
HP:0000662	Nyctalopia	4117	MAK	ORPHA:791
HP:0000662	Nyctalopia	4117	MAK	OMIM:614181
HP:0000662	Nyctalopia	25794	FSCN2	ORPHA:791
HP:0000662	Nyctalopia	25794	FSCN2	OMIM:607921
HP:0000662	Nyctalopia	375298	CERKL	ORPHA:791
HP:0000662	Nyctalopia	3420	IDH3B	ORPHA:791
HP:0000662	Nyctalopia	57670	KIAA1549	ORPHA:791
HP:0000662	Nyctalopia	57670	KIAA1549	OMIM:618613
HP:0000662	Nyctalopia	7275	TUB	ORPHA:791
HP:0000662	Nyctalopia	24148	PRPF6	ORPHA:791
HP:0000662	Nyctalopia	24148	PRPF6	OMIM:613983
HP:0000662	Nyctalopia	23418	CRB1	ORPHA:791
HP:0000662	Nyctalopia	23418	CRB1	OMIM:600105
HP:0000662	Nyctalopia	10461	MERTK	ORPHA:791
HP:0000662	Nyctalopia	10461	MERTK	OMIM:613862
HP:0000662	Nyctalopia	57709	SLC7A14	ORPHA:791
HP:0000662	Nyctalopia	57709	SLC7A14	OMIM:615725
HP:0000662	Nyctalopia	768206	PRCD	ORPHA:791
HP:0000662	Nyctalopia	7399	USH2A	ORPHA:791
HP:0000662	Nyctalopia	7399	USH2A	ORPHA:231178
HP:0000662	Nyctalopia	23370	ARHGEF18	ORPHA:791
HP:0000662	Nyctalopia	23370	ARHGEF18	OMIM:617433
HP:0000662	Nyctalopia	5949	RBP3	ORPHA:791
HP:0000662	Nyctalopia	5949	RBP3	OMIM:615233
HP:0000662	Nyctalopia	5949	RBP3	OMIM:268000
HP:0000662	Nyctalopia	6010	RHO	ORPHA:791
HP:0000662	Nyctalopia	6010	RHO	OMIM:613731
HP:0000662	Nyctalopia	6010	RHO	ORPHA:52427
HP:0000662	Nyctalopia	6010	RHO	ORPHA:215
HP:0000662	Nyctalopia	6010	RHO	OMIM:136880
HP:0000662	Nyctalopia	6100	RP9	ORPHA:791
HP:0000662	Nyctalopia	6100	RP9	OMIM:180104
HP:0000662	Nyctalopia	10002	NR2E3	ORPHA:791
HP:0000662	Nyctalopia	10002	NR2E3	OMIM:268100
HP:0000662	Nyctalopia	10002	NR2E3	OMIM:611131
HP:0000662	Nyctalopia	9227	LRAT	ORPHA:791
HP:0000662	Nyctalopia	9227	LRAT	OMIM:268000
HP:0000662	Nyctalopia	9227	LRAT	ORPHA:364055
HP:0000662	Nyctalopia	9227	LRAT	OMIM:613341
HP:0000662	Nyctalopia	84140	FAM161A	ORPHA:791
HP:0000662	Nyctalopia	84140	FAM161A	OMIM:606068
HP:0000662	Nyctalopia	55812	SPATA7	ORPHA:791
HP:0000662	Nyctalopia	55812	SPATA7	ORPHA:364055
HP:0000662	Nyctalopia	55812	SPATA7	OMIM:604232
HP:0000662	Nyctalopia	55624	POMGNT1	ORPHA:791
HP:0000662	Nyctalopia	55624	POMGNT1	OMIM:617123
HP:0000662	Nyctalopia	79797	ZNF408	ORPHA:791
HP:0000662	Nyctalopia	79797	ZNF408	OMIM:616469
HP:0000662	Nyctalopia	403	ARL3	ORPHA:791
HP:0000662	Nyctalopia	403	ARL3	OMIM:618161
HP:0000662	Nyctalopia	403	ARL3	OMIM:618173
HP:0000662	Nyctalopia	5145	PDE6A	ORPHA:791
HP:0000662	Nyctalopia	5145	PDE6A	OMIM:613810
HP:0000662	Nyctalopia	10210	TOPORS	ORPHA:791
HP:0000662	Nyctalopia	8842	PROM1	ORPHA:791
HP:0000662	Nyctalopia	8842	PROM1	ORPHA:827
HP:0000662	Nyctalopia	8842	PROM1	OMIM:612095
HP:0000662	Nyctalopia	8842	PROM1	ORPHA:1872
HP:0000662	Nyctalopia	8842	PROM1	OMIM:612657
HP:0000662	Nyctalopia	9128	PRPF4	ORPHA:791
HP:0000662	Nyctalopia	9128	PRPF4	OMIM:615922
HP:0000662	Nyctalopia	145226	RDH12	ORPHA:791
HP:0000662	Nyctalopia	50939	IMPG2	ORPHA:791
HP:0000662	Nyctalopia	50939	IMPG2	OMIM:613581
HP:0000662	Nyctalopia	57545	CC2D2A	ORPHA:791
HP:0000662	Nyctalopia	8481	OFD1	ORPHA:791
HP:0000662	Nyctalopia	49855	SCAPER	ORPHA:791
HP:0000662	Nyctalopia	49855	SCAPER	OMIM:618195
HP:0000662	Nyctalopia	49855	SCAPER	ORPHA:110
HP:0000662	Nyctalopia	9742	IFT140	ORPHA:791
HP:0000662	Nyctalopia	9742	IFT140	OMIM:617781
HP:0000662	Nyctalopia	2979	GUCA1B	ORPHA:791
HP:0000662	Nyctalopia	1259	CNGA1	ORPHA:791
HP:0000662	Nyctalopia	1259	CNGA1	OMIM:268000
HP:0000662	Nyctalopia	1259	CNGA1	OMIM:613756
HP:0000662	Nyctalopia	1258	CNGB1	ORPHA:791
HP:0000662	Nyctalopia	1258	CNGB1	OMIM:613767
HP:0000662	Nyctalopia	60509	AGBL5	ORPHA:791
HP:0000662	Nyctalopia	60509	AGBL5	OMIM:617023
HP:0000662	Nyctalopia	5961	PRPH2	ORPHA:791
HP:0000662	Nyctalopia	5961	PRPH2	ORPHA:827
HP:0000662	Nyctalopia	5961	PRPH2	OMIM:608133
HP:0000662	Nyctalopia	5961	PRPH2	ORPHA:1872
HP:0000662	Nyctalopia	5961	PRPH2	ORPHA:52427
HP:0000662	Nyctalopia	5961	PRPH2	OMIM:169150
HP:0000662	Nyctalopia	5961	PRPH2	ORPHA:75377
HP:0000662	Nyctalopia	5961	PRPH2	OMIM:136880
HP:0000662	Nyctalopia	388939	PCARE	ORPHA:791
HP:0000662	Nyctalopia	388939	PCARE	OMIM:613428
HP:0000662	Nyctalopia	7439	BEST1	ORPHA:791
HP:0000662	Nyctalopia	7439	BEST1	OMIM:613194
HP:0000662	Nyctalopia	7439	BEST1	OMIM:193220
HP:0000662	Nyctalopia	9785	DHX38	ORPHA:791
HP:0000662	Nyctalopia	9785	DHX38	OMIM:618220
HP:0000662	Nyctalopia	5995	RGR	ORPHA:791
HP:0000662	Nyctalopia	9129	PRPF3	ORPHA:791
HP:0000662	Nyctalopia	9129	PRPF3	OMIM:601414
HP:0000662	Nyctalopia	55975	KLHL7	ORPHA:791
HP:0000662	Nyctalopia	3617	IMPG1	ORPHA:791
HP:0000662	Nyctalopia	94137	RP1L1	ORPHA:791
HP:0000662	Nyctalopia	94137	RP1L1	OMIM:618826
HP:0000662	Nyctalopia	5158	PDE6B	ORPHA:791
HP:0000662	Nyctalopia	5158	PDE6B	OMIM:613801
HP:0000662	Nyctalopia	5158	PDE6B	ORPHA:215
HP:0000662	Nyctalopia	6102	RP2	ORPHA:791
HP:0000662	Nyctalopia	6102	RP2	OMIM:312600
HP:0000662	Nyctalopia	55857	KIZ	ORPHA:791
HP:0000662	Nyctalopia	55857	KIZ	OMIM:615780
HP:0000662	Nyctalopia	64218	SEMA4A	ORPHA:791
HP:0000662	Nyctalopia	64218	SEMA4A	ORPHA:1872
HP:0000662	Nyctalopia	64218	SEMA4A	OMIM:610282
HP:0000662	Nyctalopia	64218	SEMA4A	OMIM:610283
HP:0000662	Nyctalopia	4901	NRL	ORPHA:791
HP:0000662	Nyctalopia	4901	NRL	OMIM:613750
HP:0000662	Nyctalopia	157657	CFAP418	ORPHA:791
HP:0000662	Nyctalopia	157657	CFAP418	OMIM:268000
HP:0000662	Nyctalopia	157657	CFAP418	ORPHA:1872
HP:0000662	Nyctalopia	157657	CFAP418	ORPHA:110
HP:0000662	Nyctalopia	157657	CFAP418	OMIM:614500
HP:0000662	Nyctalopia	10594	PRPF8	ORPHA:791
HP:0000662	Nyctalopia	10594	PRPF8	OMIM:600059
HP:0000662	Nyctalopia	84100	ARL6	ORPHA:791
HP:0000662	Nyctalopia	84100	ARL6	OMIM:268000
HP:0000662	Nyctalopia	84100	ARL6	OMIM:209900
HP:0000662	Nyctalopia	84100	ARL6	ORPHA:110
HP:0000662	Nyctalopia	84100	ARL6	OMIM:600151
HP:0000662	Nyctalopia	6295	SAG	ORPHA:791
HP:0000662	Nyctalopia	6295	SAG	OMIM:613758
HP:0000662	Nyctalopia	6295	SAG	ORPHA:215
HP:0000662	Nyctalopia	79947	DHDDS	ORPHA:791
HP:0000662	Nyctalopia	79947	DHDDS	OMIM:613861
HP:0000662	Nyctalopia	1121	CHM	OMIM:303100
HP:0000662	Nyctalopia	1121	CHM	ORPHA:180
HP:0000662	Nyctalopia	4598	MVK	OMIM:260920
HP:0000662	Nyctalopia	2677	GGCX	ORPHA:436274
HP:0000662	Nyctalopia	6785	ELOVL4	ORPHA:827
HP:0000662	Nyctalopia	54714	CNGB3	ORPHA:827
HP:0000662	Nyctalopia	23078	VWA8	OMIM:620422
HP:0000662	Nyctalopia	84320	ACBD6	OMIM:620785
HP:0000662	Nyctalopia	80270	HSD3B7	ORPHA:79301
HP:0000662	Nyctalopia	23746	AIPL1	OMIM:268000
HP:0000662	Nyctalopia	23746	AIPL1	ORPHA:1872
HP:0000662	Nyctalopia	23746	AIPL1	OMIM:604393
HP:0000662	Nyctalopia	167691	LCA5	ORPHA:364055
HP:0000662	Nyctalopia	114902	C1QTNF5	ORPHA:67042
HP:0000662	Nyctalopia	100151683	RNU4ATAC	OMIM:226960
HP:0000662	Nyctalopia	83715	ESPN	OMIM:618632
HP:0000662	Nyctalopia	83715	ESPN	ORPHA:231169
HP:0000662	Nyctalopia	5191	PEX7	OMIM:266500
HP:0000662	Nyctalopia	5191	PEX7	OMIM:614879
HP:0000662	Nyctalopia	5191	PEX7	ORPHA:773
HP:0000662	Nyctalopia	5264	PHYH	OMIM:266500
HP:0000662	Nyctalopia	5264	PHYH	ORPHA:773
HP:0000662	Nyctalopia	83552	MFRP	OMIM:611040
HP:0000662	Nyctalopia	5322	PLA2G5	OMIM:228980
HP:0000662	Nyctalopia	2784	GNB3	OMIM:617024
HP:0000662	Nyctalopia	2784	GNB3	ORPHA:215
HP:0000662	Nyctalopia	8882	ZPR1	OMIM:619321
HP:0000662	Nyctalopia	755	CFAP410	OMIM:617547
HP:0000662	Nyctalopia	755	CFAP410	ORPHA:1872
HP:0000662	Nyctalopia	22926	ATF6	ORPHA:1872
HP:0000662	Nyctalopia	64802	NMNAT1	ORPHA:1872
HP:0000662	Nyctalopia	64802	NMNAT1	OMIM:608553
HP:0000662	Nyctalopia	84839	RAX2	ORPHA:1872
HP:0000662	Nyctalopia	57096	RPGRIP1	ORPHA:1872
HP:0000662	Nyctalopia	57096	RPGRIP1	OMIM:608194
HP:0000662	Nyctalopia	57096	RPGRIP1	OMIM:613826
HP:0000662	Nyctalopia	1261	CNGA3	ORPHA:1872
HP:0000662	Nyctalopia	1261	CNGA3	OMIM:216900
HP:0000662	Nyctalopia	5956	OPN1LW	ORPHA:1872
HP:0000662	Nyctalopia	778	CACNA1F	ORPHA:1872
HP:0000662	Nyctalopia	778	CACNA1F	ORPHA:215
HP:0000662	Nyctalopia	8754	ADAM9	ORPHA:1872
HP:0000662	Nyctalopia	3000	GUCY2D	ORPHA:1872
HP:0000662	Nyctalopia	3000	GUCY2D	OMIM:601777
HP:0000662	Nyctalopia	3000	GUCY2D	OMIM:618555
HP:0000662	Nyctalopia	3000	GUCY2D	ORPHA:75377
HP:0000662	Nyctalopia	3000	GUCY2D	OMIM:204000
HP:0000662	Nyctalopia	22999	RIMS1	ORPHA:1872
HP:0000662	Nyctalopia	128338	DRAM2	ORPHA:1872
HP:0000662	Nyctalopia	128338	DRAM2	OMIM:616502
HP:0000662	Nyctalopia	2652	OPN1MW	ORPHA:1872
HP:0000662	Nyctalopia	9094	UNC119	ORPHA:1872
HP:0000662	Nyctalopia	9094	UNC119	OMIM:620342
HP:0000662	Nyctalopia	93589	CACNA2D4	ORPHA:1872
HP:0000662	Nyctalopia	93589	CACNA2D4	ORPHA:215
HP:0000662	Nyctalopia	2978	GUCA1A	ORPHA:1872
HP:0000662	Nyctalopia	2978	GUCA1A	ORPHA:75377
HP:0000662	Nyctalopia	282809	POC1B	ORPHA:1872
HP:0000662	Nyctalopia	83394	PITPNM3	ORPHA:1872
HP:0000662	Nyctalopia	23093	TTLL5	ORPHA:1872
HP:0000662	Nyctalopia	83723	TLCD3B	ORPHA:1872
HP:0000662	Nyctalopia	9364	RAB28	ORPHA:1872
HP:0000662	Nyctalopia	169522	KCNV2	OMIM:610356
HP:0000662	Nyctalopia	28982	FLVCR1	ORPHA:88628
HP:0000662	Nyctalopia	28982	FLVCR1	OMIM:609033
HP:0000662	Nyctalopia	3423	IDS	ORPHA:217085
HP:0000662	Nyctalopia	3423	IDS	ORPHA:217093
HP:0000662	Nyctalopia	80201	HKDC1	OMIM:619614
HP:0000662	Nyctalopia	51109	RDH11	OMIM:616108
HP:0000662	Nyctalopia	7123	CLEC3B	OMIM:619977
HP:0000662	Nyctalopia	79140	CCDC28B	OMIM:209900
HP:0000662	Nyctalopia	26504	CNNM4	OMIM:217080
HP:0000662	Nyctalopia	157680	VPS13B	OMIM:216550
HP:0000662	Nyctalopia	4547	MTTP	ORPHA:14
HP:0000662	Nyctalopia	7274	TTPA	ORPHA:96
HP:0000662	Nyctalopia	9445	ITM2B	OMIM:616079
HP:0000662	Nyctalopia	5950	RBP4	OMIM:615147
HP:0000662	Nyctalopia	1798	DPAGT1	ORPHA:86309
HP:0000662	Nyctalopia	92482	BBIP1	ORPHA:110
HP:0000662	Nyctalopia	80184	CEP290	ORPHA:110
HP:0000662	Nyctalopia	11020	IFT27	ORPHA:110
HP:0000662	Nyctalopia	4867	NPHP1	ORPHA:110
HP:0000662	Nyctalopia	51057	WDPCP	ORPHA:110
HP:0000662	Nyctalopia	132320	SCLT1	ORPHA:110
HP:0000662	Nyctalopia	27241	BBS9	ORPHA:110
HP:0000662	Nyctalopia	84984	CEP19	ORPHA:110
HP:0000662	Nyctalopia	22954	TRIM32	ORPHA:110
HP:0000662	Nyctalopia	54903	MKS1	ORPHA:110
HP:0000662	Nyctalopia	79738	BBS10	ORPHA:110
HP:0000662	Nyctalopia	585	BBS4	ORPHA:110
HP:0000662	Nyctalopia	585	BBS4	OMIM:615982
HP:0000662	Nyctalopia	8195	MKKS	ORPHA:110
HP:0000662	Nyctalopia	54585	LZTFL1	ORPHA:110
HP:0000662	Nyctalopia	55212	BBS7	ORPHA:110
HP:0000662	Nyctalopia	166379	BBS12	ORPHA:110
HP:0000662	Nyctalopia	10806	SDCCAG8	ORPHA:110
HP:0000662	Nyctalopia	129880	BBS5	ORPHA:110
HP:0000662	Nyctalopia	129880	BBS5	OMIM:615983
HP:0000662	Nyctalopia	80173	IFT74	ORPHA:110
HP:0000662	Nyctalopia	79955	PDZD7	ORPHA:231178
HP:0000662	Nyctalopia	4647	MYO7A	ORPHA:231178
HP:0000662	Nyctalopia	4647	MYO7A	ORPHA:231169
HP:0000662	Nyctalopia	25861	WHRN	ORPHA:231178
HP:0000662	Nyctalopia	25861	WHRN	OMIM:611383
HP:0000662	Nyctalopia	84059	ADGRV1	ORPHA:231178
HP:0000662	Nyctalopia	3769	KCNJ13	OMIM:614186
HP:0000662	Nyctalopia	22901	ARSG	OMIM:618144
HP:0000662	Nyctalopia	22901	ARSG	ORPHA:231183
HP:0000662	Nyctalopia	285440	CYP4V2	ORPHA:41751
HP:0000662	Nyctalopia	5149	PDE6H	OMIM:610024
HP:0000662	Nyctalopia	10283	CWC27	OMIM:250410
HP:0000662	Nyctalopia	10283	CWC27	ORPHA:166035
HP:0000662	Nyctalopia	25839	COG4	OMIM:618150
HP:0000662	Nyctalopia	5959	RDH5	ORPHA:52427
HP:0000662	Nyctalopia	5959	RDH5	OMIM:136880
HP:0000662	Nyctalopia	2916	GRM6	OMIM:257270
HP:0000662	Nyctalopia	2916	GRM6	ORPHA:215
HP:0000662	Nyctalopia	3098	HK1	OMIM:617460
HP:0000662	Nyctalopia	56623	INPP5E	OMIM:610156
HP:0000662	Nyctalopia	7078	TIMP3	ORPHA:59181
HP:0000662	Nyctalopia	9371	KIF3B	OMIM:618955
HP:0000662	Nyctalopia	2799	GNS	OMIM:252940
HP:0000662	Nyctalopia	4308	TRPM1	ORPHA:215
HP:0000662	Nyctalopia	57010	CABP4	ORPHA:215
HP:0000662	Nyctalopia	345193	LRIT3	ORPHA:215
HP:0000662	Nyctalopia	345193	LRIT3	OMIM:615058
HP:0000662	Nyctalopia	440435	GPR179	ORPHA:215
HP:0000662	Nyctalopia	6011	GRK1	ORPHA:215
HP:0000662	Nyctalopia	9187	SLC24A1	ORPHA:215
HP:0000662	Nyctalopia	2779	GNAT1	ORPHA:215
HP:0000662	Nyctalopia	60506	NYX	ORPHA:215
HP:0000662	Nyctalopia	4575	MT-TS2	ORPHA:231183
HP:0000662	Nyctalopia	3035	HARS1	ORPHA:231183
HP:0000662	Nyctalopia	84131	CEP78	ORPHA:231183
HP:0000662	Nyctalopia	55670	PEX26	ORPHA:772
HP:0000662	Nyctalopia	5824	PEX19	ORPHA:772
HP:0000662	Nyctalopia	5828	PEX2	ORPHA:772
HP:0000662	Nyctalopia	8504	PEX3	ORPHA:772
HP:0000662	Nyctalopia	9409	PEX16	ORPHA:772
HP:0000662	Nyctalopia	5190	PEX6	ORPHA:772
HP:0000662	Nyctalopia	8799	PEX11B	ORPHA:772
HP:0000662	Nyctalopia	5830	PEX5	ORPHA:772
HP:0000662	Nyctalopia	5189	PEX1	ORPHA:772
HP:0000662	Nyctalopia	5193	PEX12	ORPHA:772
HP:0000662	Nyctalopia	5194	PEX13	ORPHA:772
HP:0000662	Nyctalopia	5195	PEX14	ORPHA:772
HP:0000662	Nyctalopia	5192	PEX10	ORPHA:772
HP:0000662	Nyctalopia	112752	IFT43	OMIM:617871
HP:0000662	Nyctalopia	8565	YARS1	OMIM:619418
HP:0000662	Nyctalopia	4942	OAT	OMIM:258870
HP:0000662	Nyctalopia	3030	HADHA	ORPHA:5
HP:0000662	Nyctalopia	64072	CDH23	ORPHA:231169
HP:0000662	Nyctalopia	10083	USH1C	ORPHA:231169
HP:0000662	Nyctalopia	124590	USH1G	ORPHA:231169
HP:0000662	Nyctalopia	10518	CIB2	ORPHA:231169
HP:0000662	Nyctalopia	65217	PCDH15	ORPHA:231169
HP:0000662	Nyctalopia	23155	CLCC1	OMIM:609913
HP:0000662	Nyctalopia	23404	EXOSC2	OMIM:617763
HP:0000662	Nyctalopia	57728	WDR19	OMIM:614378
HP:0000662	Nyctalopia	4327	MMP19	OMIM:611543
HP:0000662	Nyctalopia	51095	TRNT1	OMIM:616959
HP:0000662	Nyctalopia	9927	MFN2	ORPHA:99947
HP:0000662	Nyctalopia	6786	STIM1	OMIM:160565
HP:0000662	Nyctalopia	6935	ZEB1	ORPHA:98974
HP:0000662	Nyctalopia	123624	AGBL1	ORPHA:98974
HP:0000662	Nyctalopia	6925	TCF4	ORPHA:98974
HP:0000662	Nyctalopia	83959	SLC4A11	ORPHA:98974
HP:0000662	Nyctalopia	1296	COL8A2	ORPHA:98974
HP:0000662	Nyctalopia	4646	MYO6	OMIM:607821
HP:0000662	Nyctalopia	2263	FGFR2	ORPHA:313855
HP:0000662	Nyctalopia	83696	TRAPPC9	ORPHA:352530
HP:0000662	Nyctalopia	5456	POU3F4	ORPHA:1435
HP:0007922	Hypermyelinated retinal nerve fibers	1593	CYP27A1	ORPHA:909
HP:0007922	Hypermyelinated retinal nerve fibers	26278	SACS	ORPHA:98
HP:0007922	Hypermyelinated retinal nerve fibers	26278	SACS	OMIM:270550
HP:0007922	Hypermyelinated retinal nerve fibers	5159	PDGFRB	OMIM:601812
HP:0007655	Eversion of lateral third of lower eyelids	3190	HNRNPK	ORPHA:453504
HP:0007655	Eversion of lateral third of lower eyelids	3190	HNRNPK	ORPHA:352665
HP:0007655	Eversion of lateral third of lower eyelids	998	CDC42	ORPHA:487796
HP:0007655	Eversion of lateral third of lower eyelids	998	CDC42	OMIM:616737
HP:0007655	Eversion of lateral third of lower eyelids	8085	KMT2D	ORPHA:2322
HP:0007655	Eversion of lateral third of lower eyelids	8085	KMT2D	OMIM:147920
HP:0007655	Eversion of lateral third of lower eyelids	7403	KDM6A	ORPHA:2322
HP:0007655	Eversion of lateral third of lower eyelids	7403	KDM6A	OMIM:300867
HP:0007655	Eversion of lateral third of lower eyelids	7403	KDM6A	OMIM:147920
HP:0007655	Eversion of lateral third of lower eyelids	26834	RNU4-2	OMIM:620851
HP:0007655	Eversion of lateral third of lower eyelids	2892	GRIA3	ORPHA:364028
HP:0007655	Eversion of lateral third of lower eyelids	4297	KMT2A	OMIM:605130
HP:0007656	Lacrimal gland aplasia	2263	FGFR2	OMIM:149730
HP:0007656	Lacrimal gland aplasia	2263	FGFR2	ORPHA:2363
HP:0007656	Lacrimal gland aplasia	2261	FGFR3	ORPHA:2363
HP:0007656	Lacrimal gland aplasia	2255	FGF10	ORPHA:2363
HP:0007656	Lacrimal gland aplasia	2255	FGF10	OMIM:180920
HP:0007656	Lacrimal gland aplasia	668	FOXL2	ORPHA:572333
HP:0007657	Diffuse nuclear cataract	7431	VIM	OMIM:116300
HP:0007658	Large hyperpigmented retinal spots	726	CAPN5	OMIM:193235
HP:0033790	Thistle tube shaped pulp	1834	DSPP	OMIM:125420
HP:0033794	Acral overgrowth	5573	PRKAR1A	OMIM:160980
HP:0033794	Acral overgrowth	5290	PIK3CA	ORPHA:140944
HP:0033794	Acral overgrowth	284119	CAVIN1	OMIM:613327
HP:0033794	Acral overgrowth	11145	PLAAT3	OMIM:620683
HP:0033794	Acral overgrowth	2778	GNAS	OMIM:617686
HP:0033794	Acral overgrowth	2778	GNAS	OMIM:174800
HP:0033794	Acral overgrowth	83550	GPR101	ORPHA:963
HP:0033794	Acral overgrowth	83550	GPR101	OMIM:300942
HP:0033794	Acral overgrowth	9049	AIP	ORPHA:963
HP:0033794	Acral overgrowth	9049	AIP	OMIM:102200
HP:0033796	Abnormal leukocyte physiology	64421	DCLRE1C	ORPHA:275
HP:0033796	Abnormal leukocyte physiology	695	BTK	OMIM:300755
HP:0033796	Abnormal leukocyte physiology	3932	LCK	OMIM:615758
HP:0033796	Abnormal leukocyte physiology	987	LRBA	OMIM:614700
HP:0033796	Abnormal leukocyte physiology	5424	POLD1	OMIM:620836
HP:0033796	Abnormal leukocyte physiology	8085	KMT2D	ORPHA:2322
HP:0033796	Abnormal leukocyte physiology	8085	KMT2D	OMIM:147920
HP:0033796	Abnormal leukocyte physiology	7403	KDM6A	ORPHA:2322
HP:0033796	Abnormal leukocyte physiology	7403	KDM6A	OMIM:147920
HP:0033796	Abnormal leukocyte physiology	3543	IGLL1	OMIM:613500
HP:0033796	Abnormal leukocyte physiology	2314	FLII	ORPHA:819
HP:0033796	Abnormal leukocyte physiology	23096	IQSEC2	ORPHA:819
HP:0033796	Abnormal leukocyte physiology	10743	RAI1	ORPHA:819
HP:0033796	Abnormal leukocyte physiology	10522	DEAF1	ORPHA:819
HP:0033796	Abnormal leukocyte physiology	29760	BLNK	OMIM:613502
HP:0033796	Abnormal leukocyte physiology	868	CBLB	OMIM:620430
HP:0033796	Abnormal leukocyte physiology	29927	SEC61A1	OMIM:620670
HP:0033796	Abnormal leukocyte physiology	7298	TYMS	OMIM:620040
HP:0033796	Abnormal leukocyte physiology	84876	ORAI1	OMIM:612782
HP:0033796	Abnormal leukocyte physiology	9020	MAP3K14	OMIM:620449
HP:0033796	Abnormal leukocyte physiology	6786	STIM1	OMIM:612783
HP:0033796	Abnormal leukocyte physiology	8792	TNFRSF11A	OMIM:612301
HP:0033796	Abnormal leukocyte physiology	3117	HLA-DQA1	OMIM:212750
HP:0033796	Abnormal leukocyte physiology	3119	HLA-DQB1	OMIM:212750
HP:0033796	Abnormal leukocyte physiology	10815	CPLX1	ORPHA:280
HP:0033796	Abnormal leukocyte physiology	54872	PIGG	ORPHA:280
HP:0033796	Abnormal leukocyte physiology	7469	NELFA	ORPHA:280
HP:0033796	Abnormal leukocyte physiology	1487	CTBP1	ORPHA:280
HP:0033796	Abnormal leukocyte physiology	3954	LETM1	ORPHA:280
HP:0033796	Abnormal leukocyte physiology	7468	NSD2	ORPHA:280
HP:0033796	Abnormal leukocyte physiology	2475	MTOR	ORPHA:457485
HP:0033796	Abnormal leukocyte physiology	2475	MTOR	OMIM:616638
HP:0033796	Abnormal leukocyte physiology	5373	PMM2	OMIM:212065
HP:0033796	Abnormal leukocyte physiology	10043	TOM1	OMIM:619510
HP:0033796	Abnormal leukocyte physiology	10526	IPO8	OMIM:619472
HP:0033796	Abnormal leukocyte physiology	51604	PIGT	ORPHA:369837
HP:0033796	Abnormal leukocyte physiology	54440	SASH3	OMIM:301082
HP:0033796	Abnormal leukocyte physiology	60468	BACH2	OMIM:618394
HP:0033796	Abnormal leukocyte physiology	83737	ITCH	OMIM:613385
HP:0033796	Abnormal leukocyte physiology	974	CD79B	OMIM:612692
HP:0033796	Abnormal leukocyte physiology	5336	PLCG2	OMIM:614878
HP:0033796	Abnormal leukocyte physiology	84905	ZNF341	OMIM:618282
HP:0033796	Abnormal leukocyte physiology	139818	DOCK11	OMIM:301109
HP:0033796	Abnormal leukocyte physiology	5557	PRIM1	OMIM:620005
HP:0033796	Abnormal leukocyte physiology	3501	IGHG2	ORPHA:183675
HP:0033796	Abnormal leukocyte physiology	6688	SPI1	OMIM:619707
HP:0033796	Abnormal leukocyte physiology	284119	CAVIN1	OMIM:613327
HP:0033796	Abnormal leukocyte physiology	6929	TCF3	OMIM:619824
HP:0033796	Abnormal leukocyte physiology	165918	RNF168	ORPHA:420741
HP:0033796	Abnormal leukocyte physiology	4893	NRAS	OMIM:614470
HP:0033796	Abnormal leukocyte physiology	3845	KRAS	OMIM:614470
HP:0033796	Abnormal leukocyte physiology	958	CD40	OMIM:606843
HP:0033796	Abnormal leukocyte physiology	959	CD40LG	OMIM:308230
HP:0033796	Abnormal leukocyte physiology	30011	SH3KBP1	OMIM:300310
HP:0033796	Abnormal leukocyte physiology	3570	IL6R	OMIM:618944
HP:0033796	Abnormal leukocyte physiology	28956	LAMTOR2	OMIM:610798
HP:0033796	Abnormal leukocyte physiology	23387	SIK3	OMIM:618162
HP:0033796	Abnormal leukocyte physiology	5426	POLE	OMIM:615139
HP:0033796	Abnormal leukocyte physiology	81704	DOCK8	OMIM:243700
HP:0033796	Abnormal leukocyte physiology	96459	FNIP1	OMIM:619705
HP:0033796	Abnormal leukocyte physiology	9138	ARHGEF1	OMIM:618459
HP:0033796	Abnormal leukocyte physiology	8883	NAE1	OMIM:620210
HP:0033796	Abnormal leukocyte physiology	57379	AICDA	OMIM:605258
HP:0033796	Abnormal leukocyte physiology	7374	UNG	OMIM:608106
HP:0033796	Abnormal leukocyte physiology	4683	NBN	OMIM:251260
HP:0033796	Abnormal leukocyte physiology	7454	WAS	OMIM:301000
HP:0033796	Abnormal leukocyte physiology	57724	EPG5	OMIM:242840
HP:0033796	Abnormal leukocyte physiology	5873	RAB27A	OMIM:607624
HP:0033796	Abnormal leukocyte physiology	56160	NSMCE3	OMIM:617241
HP:0033796	Abnormal leukocyte physiology	6499	SKIC2	ORPHA:84064
HP:0033796	Abnormal leukocyte physiology	50615	IL21R	OMIM:615207
HP:0033796	Abnormal leukocyte physiology	404672	GTF2H5	ORPHA:33364
HP:0033796	Abnormal leukocyte physiology	833	CARS1	ORPHA:33364
HP:0033796	Abnormal leukocyte physiology	2068	ERCC2	ORPHA:33364
HP:0033796	Abnormal leukocyte physiology	7737	RNF113A	ORPHA:33364
HP:0033796	Abnormal leukocyte physiology	136647	MPLKIP	ORPHA:33364
HP:0033796	Abnormal leukocyte physiology	6897	TARS1	ORPHA:33364
HP:0033796	Abnormal leukocyte physiology	16	AARS1	ORPHA:33364
HP:0033796	Abnormal leukocyte physiology	2071	ERCC3	ORPHA:33364
HP:0033796	Abnormal leukocyte physiology	2961	GTF2E2	ORPHA:33364
HP:0033796	Abnormal leukocyte physiology	3431	SP110	ORPHA:79124
HP:0033796	Abnormal leukocyte physiology	64170	CARD9	OMIM:212050
HP:0033796	Abnormal leukocyte physiology	3071	NCKAP1L	OMIM:618982
HP:0033796	Abnormal leukocyte physiology	29775	CARD10	OMIM:619632
HP:0033796	Abnormal leukocyte physiology	1041	CDSN	ORPHA:90368
HP:0033796	Abnormal leukocyte physiology	1041	CDSN	OMIM:270300
HP:0033796	Abnormal leukocyte physiology	121391	KRT74	ORPHA:90368
HP:0033796	Abnormal leukocyte physiology	6777	STAT5B	OMIM:618985
HP:0033796	Abnormal leukocyte physiology	50943	FOXP3	OMIM:304790
HP:0033796	Abnormal leukocyte physiology	50943	FOXP3	ORPHA:37042
HP:0033796	Abnormal leukocyte physiology	3857	KRT9	OMIM:144200
HP:0033796	Abnormal leukocyte physiology	1294	COL7A1	ORPHA:89843
HP:0033796	Abnormal leukocyte physiology	7297	TYK2	OMIM:611521
HP:0033796	Abnormal leukocyte physiology	51135	IRAK4	OMIM:607676
HP:0033796	Abnormal leukocyte physiology	2239	GPC4	ORPHA:373
HP:0033796	Abnormal leukocyte physiology	2719	GPC3	ORPHA:373
HP:0033796	Abnormal leukocyte physiology	1956	EGFR	OMIM:616069
HP:0033796	Abnormal leukocyte physiology	6868	ADAM17	OMIM:614328
HP:0033796	Abnormal leukocyte physiology	10092	ARPC5	OMIM:620565
HP:0033796	Abnormal leukocyte physiology	1828	DSG1	OMIM:615508
HP:0033796	Abnormal leukocyte physiology	6778	STAT6	OMIM:620532
HP:0033796	Abnormal leukocyte physiology	340061	STING1	OMIM:615934
HP:0033796	Abnormal leukocyte physiology	7174	TPP2	OMIM:619220
HP:0033796	Abnormal leukocyte physiology	22861	NLRP1	OMIM:617388
HP:0033796	Abnormal leukocyte physiology	3560	IL2RB	OMIM:618495
HP:0033796	Abnormal leukocyte physiology	3459	IFNGR1	OMIM:209950
HP:0033796	Abnormal leukocyte physiology	90268	OTULIN	OMIM:617099
HP:0033796	Abnormal leukocyte physiology	4598	MVK	OMIM:260920
HP:0033796	Abnormal leukocyte physiology	4598	MVK	ORPHA:343
HP:0033796	Abnormal leukocyte physiology	3659	IRF1	OMIM:620668
HP:0033796	Abnormal leukocyte physiology	3594	IL12RB1	ORPHA:186
HP:0033796	Abnormal leukocyte physiology	23534	TNPO3	ORPHA:186
HP:0033796	Abnormal leukocyte physiology	3592	IL12A	ORPHA:186
HP:0033796	Abnormal leukocyte physiology	6689	SPIB	ORPHA:186
HP:0033796	Abnormal leukocyte physiology	5450	POU2AF1	ORPHA:186
HP:0033796	Abnormal leukocyte physiology	9966	TNFSF15	ORPHA:186
HP:0033796	Abnormal leukocyte physiology	79258	MMEL1	ORPHA:186
HP:0033796	Abnormal leukocyte physiology	3663	IRF5	ORPHA:186
HP:0033796	Abnormal leukocyte physiology	2859	GPR35	ORPHA:171
HP:0033796	Abnormal leukocyte physiology	10507	SEMA4D	ORPHA:171
HP:0033796	Abnormal leukocyte physiology	4485	MST1	ORPHA:171
HP:0033796	Abnormal leukocyte physiology	6925	TCF4	ORPHA:171
HP:0033796	Abnormal leukocyte physiology	4615	MYD88	OMIM:153600
HP:0033796	Abnormal leukocyte physiology	200942	KLHDC8B	OMIM:236000
HP:0033796	Abnormal leukocyte physiology	10159	ATP6AP2	OMIM:301045
HP:0033796	Abnormal leukocyte physiology	83483	PLVAP	OMIM:618183
HP:0033796	Abnormal leukocyte physiology	51750	RTEL1	OMIM:615190
HP:0033796	Abnormal leukocyte physiology	4791	NFKB2	ORPHA:293978
HP:0033796	Abnormal leukocyte physiology	4791	NFKB2	ORPHA:1572
HP:0033796	Abnormal leukocyte physiology	26235	FBXL4	OMIM:615471
HP:0033796	Abnormal leukocyte physiology	5728	PTEN	OMIM:605309
HP:0033796	Abnormal leukocyte physiology	5728	PTEN	OMIM:158350
HP:0033796	Abnormal leukocyte physiology	5728	PTEN	ORPHA:397596
HP:0033796	Abnormal leukocyte physiology	23308	ICOSLG	OMIM:620825
HP:0033796	Abnormal leukocyte physiology	10309	CCNO	OMIM:615872
HP:0033796	Abnormal leukocyte physiology	100151683	RNU4ATAC	ORPHA:353298
HP:0033796	Abnormal leukocyte physiology	8737	RIPK1	OMIM:618108
HP:0033796	Abnormal leukocyte physiology	113235	SLC46A1	ORPHA:90045
HP:0033796	Abnormal leukocyte physiology	2316	FLNA	ORPHA:99811
HP:0033796	Abnormal leukocyte physiology	4522	MTHFD1	OMIM:617780
HP:0033796	Abnormal leukocyte physiology	10525	HYOU1	OMIM:233600
HP:0033796	Abnormal leukocyte physiology	4790	NFKB1	OMIM:616576
HP:0033796	Abnormal leukocyte physiology	4790	NFKB1	ORPHA:1572
HP:0033796	Abnormal leukocyte physiology	114803	MYSM1	OMIM:618116
HP:0033796	Abnormal leukocyte physiology	56259	CTNNBL1	OMIM:619846
HP:0033796	Abnormal leukocyte physiology	79840	NHEJ1	ORPHA:169079
HP:0033796	Abnormal leukocyte physiology	6023	RMRP	ORPHA:175
HP:0033796	Abnormal leukocyte physiology	7037	TFRC	OMIM:616740
HP:0033796	Abnormal leukocyte physiology	537	ATP6AP1	OMIM:300972
HP:0033796	Abnormal leukocyte physiology	4125	MAN2B1	OMIM:248500
HP:0033796	Abnormal leukocyte physiology	10111	RAD50	OMIM:613078
HP:0033796	Abnormal leukocyte physiology	7852	CXCR4	OMIM:193670
HP:0033796	Abnormal leukocyte physiology	7852	CXCR4	ORPHA:51636
HP:0033796	Abnormal leukocyte physiology	7841	MOGS	OMIM:606056
HP:0033796	Abnormal leukocyte physiology	7841	MOGS	ORPHA:79330
HP:0033796	Abnormal leukocyte physiology	7555	CNBP	ORPHA:606
HP:0033796	Abnormal leukocyte physiology	9839	ZEB2	ORPHA:261552
HP:0033796	Abnormal leukocyte physiology	9839	ZEB2	ORPHA:261537
HP:0033796	Abnormal leukocyte physiology	4478	MSN	OMIM:300988
HP:0033796	Abnormal leukocyte physiology	146206	CARMIL2	OMIM:618131
HP:0033796	Abnormal leukocyte physiology	29128	UHRF1	ORPHA:2268
HP:0033796	Abnormal leukocyte physiology	3070	HELLS	ORPHA:2268
HP:0033796	Abnormal leukocyte physiology	3070	HELLS	OMIM:616911
HP:0033796	Abnormal leukocyte physiology	1789	DNMT3B	ORPHA:2268
HP:0033796	Abnormal leukocyte physiology	83879	CDCA7	ORPHA:2268
HP:0033796	Abnormal leukocyte physiology	83879	CDCA7	OMIM:616910
HP:0033796	Abnormal leukocyte physiology	9841	ZBTB24	ORPHA:2268
HP:0033796	Abnormal leukocyte physiology	9841	ZBTB24	OMIM:614069
HP:0033796	Abnormal leukocyte physiology	10320	IKZF1	OMIM:616873
HP:0033796	Abnormal leukocyte physiology	8742	TNFSF12	ORPHA:1572
HP:0033796	Abnormal leukocyte physiology	931	MS4A1	ORPHA:1572
HP:0033796	Abnormal leukocyte physiology	975	CD81	ORPHA:1572
HP:0033796	Abnormal leukocyte physiology	970	CD70	OMIM:618261
HP:0033796	Abnormal leukocyte physiology	57217	TTC7A	OMIM:243150
HP:0033796	Abnormal leukocyte physiology	595	CCND1	ORPHA:29073
HP:0033796	Abnormal leukocyte physiology	51095	TRNT1	OMIM:616084
HP:0033796	Abnormal leukocyte physiology	3702	ITK	OMIM:613011
HP:0033796	Abnormal leukocyte physiology	3572	IL6ST	OMIM:619750
HP:0033796	Abnormal leukocyte physiology	6774	STAT3	OMIM:615952
HP:0033796	Abnormal leukocyte physiology	9508	ADAMTS3	ORPHA:2136
HP:0033796	Abnormal leukocyte physiology	147372	CCBE1	ORPHA:2136
HP:0033796	Abnormal leukocyte physiology	79633	FAT4	ORPHA:2136
HP:0033796	Abnormal leukocyte physiology	4796	TONSL	ORPHA:93357
HP:0033796	Abnormal leukocyte physiology	3507	IGHM	OMIM:601495
HP:0033796	Abnormal leukocyte physiology	1457	CSNK2A1	OMIM:617062
HP:0033796	Abnormal leukocyte physiology	493856	CISD2	OMIM:604928
HP:0033796	Abnormal leukocyte physiology	8915	BCL10	OMIM:616098
HP:0033796	Abnormal leukocyte physiology	5295	PIK3R1	ORPHA:397596
HP:0033796	Abnormal leukocyte physiology	5788	PTPRC	OMIM:619924
HP:0033796	Abnormal leukocyte physiology	4780	NFE2L2	OMIM:617744
HP:0033796	Abnormal leukocyte physiology	51816	ADA2	OMIM:615688
HP:0033796	Abnormal leukocyte physiology	6117	RPA1	OMIM:619767
HP:0033796	Abnormal leukocyte physiology	10165	SLC25A13	ORPHA:247598
HP:0033796	Abnormal leukocyte physiology	84433	CARD11	OMIM:615206
HP:0033796	Abnormal leukocyte physiology	5294	PIK3CG	OMIM:619802
HP:0033796	Abnormal leukocyte physiology	6948	TCN2	ORPHA:859
HP:0033796	Abnormal leukocyte physiology	4938	OAS1	OMIM:618042
HP:0033796	Abnormal leukocyte physiology	7157	TP53	OMIM:618165
HP:0033796	Abnormal leukocyte physiology	9652	SKIC3	OMIM:222470
HP:0033796	Abnormal leukocyte physiology	27040	LAT	OMIM:617514
HP:0033796	Abnormal leukocyte physiology	10625	IVNS1ABP	OMIM:618969
HP:0033796	Abnormal leukocyte physiology	9939	RBM8A	OMIM:274000
HP:0033796	Abnormal leukocyte physiology	641	BLM	ORPHA:125
HP:0033796	Abnormal leukocyte physiology	1604	CD55	OMIM:226300
HP:0033796	Abnormal leukocyte physiology	28985	MCTS1	OMIM:301115
HP:0033796	Abnormal leukocyte physiology	3852	KRT5	ORPHA:79396
HP:0033796	Abnormal leukocyte physiology	3861	KRT14	ORPHA:79396
HP:0033796	Abnormal leukocyte physiology	219285	SAMD9L	ORPHA:2585
HP:0033796	Abnormal leukocyte physiology	11005	SPINK5	ORPHA:634
HP:0033796	Abnormal leukocyte physiology	59067	IL21	OMIM:615767
HP:0033796	Abnormal leukocyte physiology	5698	PSMB9	OMIM:620796
HP:0033796	Abnormal leukocyte physiology	65082	VPS33A	ORPHA:505248
HP:0033796	Abnormal leukocyte physiology	55687	TRMU	OMIM:613070
HP:0033796	Abnormal leukocyte physiology	6573	SLC19A1	OMIM:620603
HP:0033796	Abnormal leukocyte physiology	374354	NHLRC2	OMIM:618278
HP:0033796	Abnormal leukocyte physiology	6651	SON	ORPHA:500150
HP:0033796	Abnormal leukocyte physiology	51311	TLR8	OMIM:301078
HP:0033796	Abnormal leukocyte physiology	8884	SLC5A6	OMIM:618973
HP:0033796	Abnormal leukocyte physiology	84888	SPPL2A	OMIM:619549
HP:0033796	Abnormal leukocyte physiology	7922	SLC39A7	OMIM:619693
HP:0033796	Abnormal leukocyte physiology	7922	SLC39A7	ORPHA:33110
HP:0033796	Abnormal leukocyte physiology	1678	TIMM8A	ORPHA:52368
HP:0033796	Abnormal leukocyte physiology	973	CD79A	OMIM:613501
HP:0033796	Abnormal leukocyte physiology	973	CD79A	ORPHA:33110
HP:0033796	Abnormal leukocyte physiology	56262	LRRC8A	OMIM:613506
HP:0033796	Abnormal leukocyte physiology	56262	LRRC8A	ORPHA:33110
HP:0033796	Abnormal leukocyte physiology	100	ADA	ORPHA:277
HP:0033796	Abnormal leukocyte physiology	5994	RFXAP	ORPHA:572
HP:0033796	Abnormal leukocyte physiology	4261	CIITA	ORPHA:572
HP:0033796	Abnormal leukocyte physiology	5993	RFX5	ORPHA:572
HP:0033796	Abnormal leukocyte physiology	8625	RFXANK	ORPHA:572
HP:0033796	Abnormal leukocyte physiology	204	AK2	OMIM:267500
HP:0033796	Abnormal leukocyte physiology	359948	IRF2BP2	OMIM:617765
HP:0033796	Abnormal leukocyte physiology	472	ATM	OMIM:208900
HP:0033796	Abnormal leukocyte physiology	4860	PNP	OMIM:613179
HP:0033796	Abnormal leukocyte physiology	3718	JAK3	OMIM:600802
HP:0033796	Abnormal leukocyte physiology	841	CASP8	OMIM:607271
HP:0033796	Abnormal leukocyte physiology	3953	LEPR	ORPHA:179494
HP:0033796	Abnormal leukocyte physiology	3952	LEP	ORPHA:66628
HP:0033796	Abnormal leukocyte physiology	84061	MAGT1	OMIM:300853
HP:0033796	Abnormal leukocyte physiology	7372	UMPS	ORPHA:30
HP:0033796	Abnormal leukocyte physiology	7372	UMPS	OMIM:258900
HP:0033796	Abnormal leukocyte physiology	6899	TBX1	OMIM:188400
HP:0033796	Abnormal leukocyte physiology	6899	TBX1	OMIM:192430
HP:0033796	Abnormal leukocyte physiology	6899	TBX1	ORPHA:567
HP:0033796	Abnormal leukocyte physiology	115650	TNFRSF13C	OMIM:240500
HP:0033796	Abnormal leukocyte physiology	29851	ICOS	OMIM:240500
HP:0033796	Abnormal leukocyte physiology	29851	ICOS	OMIM:607594
HP:0033796	Abnormal leukocyte physiology	930	CD19	OMIM:240500
HP:0033796	Abnormal leukocyte physiology	23495	TNFRSF13B	OMIM:240500
HP:0033796	Abnormal leukocyte physiology	1380	CR2	OMIM:240500
HP:0033796	Abnormal leukocyte physiology	55630	SLC39A4	OMIM:201100
HP:0033796	Abnormal leukocyte physiology	57511	COG6	OMIM:614576
HP:0033796	Abnormal leukocyte physiology	54487	DGCR8	OMIM:192430
HP:0033796	Abnormal leukocyte physiology	8214	DGCR6	OMIM:192430
HP:0033796	Abnormal leukocyte physiology	8220	ESS2	OMIM:192430
HP:0033796	Abnormal leukocyte physiology	9993	DGCR2	OMIM:192430
HP:0033796	Abnormal leukocyte physiology	1312	COMT	ORPHA:567
HP:0033796	Abnormal leukocyte physiology	221037	JMJD1C	ORPHA:567
HP:0033796	Abnormal leukocyte physiology	2812	GP1BB	ORPHA:567
HP:0033796	Abnormal leukocyte physiology	6239	RREB1	ORPHA:567
HP:0033796	Abnormal leukocyte physiology	7290	HIRA	ORPHA:567
HP:0033796	Abnormal leukocyte physiology	9632	SEC24C	ORPHA:567
HP:0033796	Abnormal leukocyte physiology	7353	UFD1	ORPHA:567
HP:0033796	Abnormal leukocyte physiology	421	ARVCF	ORPHA:567
HP:0033796	Abnormal leukocyte physiology	3561	IL2RG	ORPHA:276
HP:0033796	Abnormal leukocyte physiology	9056	SLC7A7	ORPHA:470
HP:0033796	Abnormal leukocyte physiology	1493	CTLA4	ORPHA:3162
HP:0033796	Abnormal leukocyte physiology	940	CD28	ORPHA:3162
HP:0033796	Abnormal leukocyte physiology	7133	TNFRSF1B	ORPHA:3162
HP:0033796	Abnormal leukocyte physiology	8517	IKBKG	ORPHA:98813
HP:0033796	Abnormal leukocyte physiology	4792	NFKBIA	ORPHA:98813
HP:0033796	Abnormal leukocyte physiology	6729	SRP54	OMIM:618752
HP:0033796	Abnormal leukocyte physiology	213	ALB	ORPHA:86816
HP:0033796	Abnormal leukocyte physiology	727897	MUC5B	OMIM:178500
HP:0033796	Abnormal leukocyte physiology	6440	SFTPC	OMIM:178500
HP:0033796	Abnormal leukocyte physiology	729238	SFTPA2	OMIM:178500
HP:0033796	Abnormal leukocyte physiology	7015	TERT	OMIM:178500
HP:0033796	Abnormal leukocyte physiology	11311	VPS45	OMIM:615285
HP:0033796	Abnormal leukocyte physiology	5184	PEPD	OMIM:170100
HP:0033796	Abnormal leukocyte physiology	1277	COL1A1	ORPHA:1310
HP:0033796	Abnormal leukocyte physiology	64135	IFIH1	OMIM:615846
HP:0033796	Abnormal leukocyte physiology	5692	PSMB4	OMIM:617591
HP:0033796	Abnormal leukocyte physiology	4733	DRG1	OMIM:620641
HP:0033796	Abnormal leukocyte physiology	2629	GBA1	ORPHA:77261
HP:0033796	Abnormal leukocyte physiology	2629	GBA1	ORPHA:77259
HP:0033796	Abnormal leukocyte physiology	9051	PSTPIP1	ORPHA:69126
HP:0033796	Abnormal leukocyte physiology	23064	SETX	OMIM:606002
HP:0033796	Abnormal leukocyte physiology	5696	PSMB8	OMIM:256040
HP:0033796	Abnormal leukocyte physiology	1991	ELANE	OMIM:202700
HP:0033796	Abnormal leukocyte physiology	950	SCARB2	ORPHA:77259
HP:0033796	Abnormal leukocyte physiology	2625	GATA3	ORPHA:2237
HP:0033796	Abnormal leukocyte physiology	3123	HLA-DRB1	OMIM:181000
HP:0033796	Abnormal leukocyte physiology	6813	STXBP2	OMIM:613101
HP:0033796	Abnormal leukocyte physiology	5293	PIK3CD	OMIM:619281
HP:0033796	Abnormal leukocyte physiology	5551	PRF1	ORPHA:540
HP:0033796	Abnormal leukocyte physiology	5551	PRF1	OMIM:603553
HP:0033796	Abnormal leukocyte physiology	8676	STX11	ORPHA:540
HP:0033796	Abnormal leukocyte physiology	201294	UNC13D	ORPHA:540
HP:0033796	Abnormal leukocyte physiology	201294	UNC13D	OMIM:608898
HP:0033796	Abnormal leukocyte physiology	58484	NLRC4	OMIM:616050
HP:0033796	Abnormal leukocyte physiology	3937	LCP2	OMIM:619374
HP:0033796	Abnormal leukocyte physiology	7456	WIPF1	OMIM:614493
HP:0033796	Abnormal leukocyte physiology	5580	PRKCD	OMIM:615559
HP:0033796	Abnormal leukocyte physiology	2214	FCGR3A	OMIM:615707
HP:0033796	Abnormal leukocyte physiology	4068	SH2D1A	OMIM:308240
HP:0033796	Abnormal leukocyte physiology	331	XIAP	OMIM:308240
HP:0033796	Abnormal leukocyte physiology	8546	AP3B1	OMIM:608233
HP:0033796	Abnormal leukocyte physiology	57591	MRTFA	OMIM:618847
HP:0033796	Abnormal leukocyte physiology	1503	CTPS1	OMIM:615897
HP:0033796	Abnormal leukocyte physiology	3978	LIG1	OMIM:619774
HP:0033796	Abnormal leukocyte physiology	7040	TGFB1	OMIM:618213
HP:0033796	Abnormal leukocyte physiology	355	FAS	ORPHA:3261
HP:0033796	Abnormal leukocyte physiology	356	FASLG	ORPHA:3261
HP:0033796	Abnormal leukocyte physiology	843	CASP10	ORPHA:3261
HP:0033796	Abnormal leukocyte physiology	3981	LIG4	OMIM:254500
HP:0033796	Abnormal leukocyte physiology	50619	DEF6	OMIM:619573
HP:0033796	Abnormal leukocyte physiology	5966	REL	OMIM:619652
HP:0033796	Abnormal leukocyte physiology	2137	EXTL3	ORPHA:508533
HP:0033796	Abnormal leukocyte physiology	6850	SYK	OMIM:619381
HP:0033796	Abnormal leukocyte physiology	3575	IL7R	ORPHA:169154
HP:0033796	Abnormal leukocyte physiology	4247	MGAT2	ORPHA:79329
HP:0033796	Abnormal leukocyte physiology	915	CD3D	ORPHA:169160
HP:0033796	Abnormal leukocyte physiology	916	CD3E	ORPHA:169160
HP:0033796	Abnormal leukocyte physiology	919	CD247	ORPHA:169160
HP:0033796	Abnormal leukocyte physiology	3551	IKBKB	OMIM:615592
HP:0033796	Abnormal leukocyte physiology	939	CD27	OMIM:615122
HP:0033796	Abnormal leukocyte physiology	5699	PSMB10	OMIM:620807
HP:0033796	Abnormal leukocyte physiology	5896	RAG1	ORPHA:331206
HP:0033796	Abnormal leukocyte physiology	5897	RAG2	ORPHA:331206
HP:0033796	Abnormal leukocyte physiology	10125	RASGRP1	OMIM:618534
HP:0033796	Abnormal leukocyte physiology	7535	ZAP70	ORPHA:911
HP:0033796	Abnormal leukocyte physiology	90417	KNSTRN	ORPHA:221139
HP:0033796	Abnormal leukocyte physiology	10892	MALT1	OMIM:615468
HP:0033796	Abnormal leukocyte physiology	3604	TNFRSF9	OMIM:620282
HP:0033796	Abnormal leukocyte physiology	5880	RAC2	OMIM:618986
HP:0033796	Abnormal leukocyte physiology	6772	STAT1	OMIM:614162
HP:0033796	Abnormal leukocyte physiology	3559	IL2RA	OMIM:606367
HP:0033796	Abnormal leukocyte physiology	55388	MCM10	OMIM:619313
HP:0033796	Abnormal leukocyte physiology	55719	SLF2	OMIM:620184
HP:0033796	Abnormal leukocyte physiology	1794	DOCK2	OMIM:616433
HP:0033796	Abnormal leukocyte physiology	5238	PGM3	ORPHA:443811
HP:0033796	Abnormal leukocyte physiology	55072	RNF31	OMIM:620632
HP:0033796	Abnormal leukocyte physiology	50485	SMARCAL1	ORPHA:1830
HP:0033796	Abnormal leukocyte physiology	23765	IL17RA	OMIM:613953
HP:0033796	Abnormal leukocyte physiology	4000	LMNA	ORPHA:300751
HP:0033796	Abnormal leukocyte physiology	8456	FOXN1	ORPHA:83471
HP:0033796	Abnormal leukocyte physiology	917	CD3G	OMIM:615607
HP:0033796	Abnormal leukocyte physiology	567	B2M	OMIM:241600
HP:0033796	Abnormal leukocyte physiology	79087	ALG12	ORPHA:79324
HP:0033796	Abnormal leukocyte physiology	6773	STAT2	OMIM:616636
HP:0033796	Abnormal leukocyte physiology	4067	LYN	OMIM:620376
HP:0033796	Abnormal leukocyte physiology	3394	IRF8	OMIM:226990
HP:0033796	Abnormal leukocyte physiology	51371	POMP	OMIM:618048
HP:0033796	Abnormal leukocyte physiology	55343	SLC35C1	ORPHA:99843
HP:0033796	Abnormal leukocyte physiology	11151	CORO1A	OMIM:615401
HP:0033796	Abnormal leukocyte physiology	81858	SHARPIN	OMIM:620795
HP:0033796	Abnormal leukocyte physiology	3514	IGKC	OMIM:614102
HP:0025244	Subretinal pigment epithelium hemorrhage	23545	ATP6V0A2	ORPHA:357074
HP:0025244	Subretinal pigment epithelium hemorrhage	523	ATP6V1A	ORPHA:357074
HP:0025244	Subretinal pigment epithelium hemorrhage	529	ATP6V1E1	ORPHA:357074
HP:0025245	Cutaneous cyst	2137	EXTL3	OMIM:617425
HP:0025245	Cutaneous cyst	3868	KRT16	ORPHA:2309
HP:0025245	Cutaneous cyst	3872	KRT17	ORPHA:2309
HP:0025245	Cutaneous cyst	3853	KRT6A	ORPHA:2309
HP:0025245	Cutaneous cyst	3854	KRT6B	ORPHA:2309
HP:0025245	Cutaneous cyst	81839	VANGL1	OMIM:600145
HP:0025245	Cutaneous cyst	7020	TFAP2A	OMIM:113620
HP:0025245	Cutaneous cyst	3110	MNX1	ORPHA:1552
HP:0025245	Cutaneous cyst	257	ALX3	ORPHA:391474
HP:0025245	Cutaneous cyst	4488	MSX2	OMIM:168550
HP:0025245	Cutaneous cyst	57688	ZSWIM6	ORPHA:1827
HP:0025245	Cutaneous cyst	6857	SYT1	ORPHA:522077
HP:0025245	Cutaneous cyst	1001	CDH3	OMIM:601553
HP:0025245	Cutaneous cyst	324	APC	ORPHA:261584
HP:0025245	Cutaneous cyst	324	APC	ORPHA:99818
HP:0025245	Cutaneous cyst	324	APC	OMIM:175100
HP:0025245	Cutaneous cyst	324	APC	ORPHA:247806
HP:0025245	Cutaneous cyst	324	APC	ORPHA:79665
HP:0025245	Cutaneous cyst	9702	CEP57	OMIM:614114
HP:0025245	Cutaneous cyst	84168	ANTXR1	OMIM:230740
HP:0025245	Cutaneous cyst	3458	IFNG	ORPHA:805
HP:0025245	Cutaneous cyst	7248	TSC1	ORPHA:805
HP:0025245	Cutaneous cyst	7249	TSC2	ORPHA:805
HP:0025245	Cutaneous cyst	56983	POGLUT1	ORPHA:79145
HP:0025245	Cutaneous cyst	3852	KRT5	ORPHA:79145
HP:0025245	Cutaneous cyst	23509	POFUT1	ORPHA:79145
HP:0025245	Cutaneous cyst	55851	PSENEN	ORPHA:79145
HP:0025245	Cutaneous cyst	1500	CTNND1	ORPHA:1997
HP:0025245	Cutaneous cyst	999	CDH1	ORPHA:1997
HP:0025247	Dermoid cyst	81839	VANGL1	OMIM:600145
HP:0025247	Dermoid cyst	7020	TFAP2A	OMIM:113620
HP:0025247	Dermoid cyst	3110	MNX1	ORPHA:1552
HP:0025247	Dermoid cyst	257	ALX3	ORPHA:391474
HP:0025247	Dermoid cyst	4488	MSX2	OMIM:168550
HP:0025247	Dermoid cyst	57688	ZSWIM6	ORPHA:1827
HP:0025247	Dermoid cyst	6857	SYT1	ORPHA:522077
HP:0025248	Eruptive vellus hair cyst	3868	KRT16	ORPHA:2309
HP:0025248	Eruptive vellus hair cyst	3872	KRT17	ORPHA:2309
HP:0025248	Eruptive vellus hair cyst	3853	KRT6A	ORPHA:2309
HP:0025248	Eruptive vellus hair cyst	3854	KRT6B	ORPHA:2309
HP:0025249	Comedo	91754	NEK9	ORPHA:64754
HP:0025249	Comedo	4035	LRP1	OMIM:604093
HP:0025249	Comedo	10161	LPAR6	OMIM:278150
HP:0025249	Comedo	200879	LIPH	OMIM:604379
HP:0033799	Abnormal circulating sex hormone concentration	254394	MCM9	OMIM:616185
HP:0033799	Abnormal circulating sex hormone concentration	402381	SOHLH1	OMIM:617690
HP:0033799	Abnormal circulating sex hormone concentration	79625	NDNF	OMIM:618841
HP:0033799	Abnormal circulating sex hormone concentration	2100	ESR2	OMIM:618187
HP:0033799	Abnormal circulating sex hormone concentration	2796	GNRH1	OMIM:614841
HP:0033799	Abnormal circulating sex hormone concentration	3814	KISS1	OMIM:614842
HP:0033799	Abnormal circulating sex hormone concentration	8314	BAP1	ORPHA:2495
HP:0033799	Abnormal circulating sex hormone concentration	4771	NF2	ORPHA:2495
HP:0033799	Abnormal circulating sex hormone concentration	6598	SMARCB1	ORPHA:2495
HP:0033799	Abnormal circulating sex hormone concentration	5155	PDGFB	ORPHA:2495
HP:0033799	Abnormal circulating sex hormone concentration	84231	TRAF7	ORPHA:2495
HP:0033799	Abnormal circulating sex hormone concentration	6608	SMO	ORPHA:2495
HP:0033799	Abnormal circulating sex hormone concentration	207	AKT1	ORPHA:2495
HP:0033799	Abnormal circulating sex hormone concentration	5290	PIK3CA	ORPHA:2495
HP:0033799	Abnormal circulating sex hormone concentration	51684	SUFU	ORPHA:2495
HP:0033799	Abnormal circulating sex hormone concentration	6605	SMARCE1	ORPHA:2495
HP:0033799	Abnormal circulating sex hormone concentration	646	BNC1	OMIM:618723
HP:0033799	Abnormal circulating sex hormone concentration	646	BNC1	ORPHA:243
HP:0033799	Abnormal circulating sex hormone concentration	125150	ZSWIM7	OMIM:619834
HP:0033799	Abnormal circulating sex hormone concentration	125150	ZSWIM7	ORPHA:243
HP:0033799	Abnormal circulating sex hormone concentration	221711	SYCP2L	OMIM:620840
HP:0033799	Abnormal circulating sex hormone concentration	7490	WT1	ORPHA:347
HP:0033799	Abnormal circulating sex hormone concentration	7490	WT1	ORPHA:251510
HP:0033799	Abnormal circulating sex hormone concentration	29893	PSMC3IP	ORPHA:243
HP:0033799	Abnormal circulating sex hormone concentration	171568	POLR3H	ORPHA:243
HP:0033799	Abnormal circulating sex hormone concentration	2516	NR5A1	ORPHA:243
HP:0033799	Abnormal circulating sex hormone concentration	2516	NR5A1	ORPHA:251510
HP:0033799	Abnormal circulating sex hormone concentration	9210	BMP15	ORPHA:243
HP:0033799	Abnormal circulating sex hormone concentration	57122	NUP107	ORPHA:243
HP:0033799	Abnormal circulating sex hormone concentration	23514	SPIDR	ORPHA:243
HP:0033799	Abnormal circulating sex hormone concentration	23514	SPIDR	OMIM:619665
HP:0033799	Abnormal circulating sex hormone concentration	2492	FSHR	ORPHA:243
HP:0033799	Abnormal circulating sex hormone concentration	56945	MRPS22	ORPHA:243
HP:0033799	Abnormal circulating sex hormone concentration	56945	MRPS22	OMIM:618117
HP:0033799	Abnormal circulating sex hormone concentration	9150	CTDP1	OMIM:604168
HP:0033799	Abnormal circulating sex hormone concentration	7516	XRCC2	OMIM:619146
HP:0033799	Abnormal circulating sex hormone concentration	2488	FSHB	ORPHA:52901
HP:0033799	Abnormal circulating sex hormone concentration	2661	GDF9	OMIM:618014
HP:0033799	Abnormal circulating sex hormone concentration	389549	FEZF1	OMIM:616030
HP:0033799	Abnormal circulating sex hormone concentration	23395	LARS2	OMIM:615300
HP:0033799	Abnormal circulating sex hormone concentration	3953	LEPR	ORPHA:179494
HP:0033799	Abnormal circulating sex hormone concentration	6662	SOX9	ORPHA:251510
HP:0033799	Abnormal circulating sex hormone concentration	6845	VAMP7	ORPHA:251510
HP:0033799	Abnormal circulating sex hormone concentration	51741	WWOX	ORPHA:251510
HP:0033799	Abnormal circulating sex hormone concentration	4214	MAP3K1	ORPHA:251510
HP:0033799	Abnormal circulating sex hormone concentration	57647	DHX37	ORPHA:251510
HP:0033799	Abnormal circulating sex hormone concentration	6736	SRY	ORPHA:251510
HP:0033799	Abnormal circulating sex hormone concentration	23414	ZFPM2	ORPHA:251510
HP:0033799	Abnormal circulating sex hormone concentration	190	NR0B1	ORPHA:251510
HP:0033799	Abnormal circulating sex hormone concentration	2626	GATA4	ORPHA:251510
HP:0033799	Abnormal circulating sex hormone concentration	3952	LEP	ORPHA:66628
HP:0033799	Abnormal circulating sex hormone concentration	10371	SEMA3A	OMIM:614897
HP:0033799	Abnormal circulating sex hormone concentration	10734	STAG3	OMIM:615723
HP:0033799	Abnormal circulating sex hormone concentration	78995	HROB	OMIM:620897
HP:0033799	Abnormal circulating sex hormone concentration	8626	TP63	OMIM:620311
HP:0033799	Abnormal circulating sex hormone concentration	50846	DHH	ORPHA:168563
HP:0033799	Abnormal circulating sex hormone concentration	1967	EIF2B1	OMIM:603896
HP:0033799	Abnormal circulating sex hormone concentration	668	FOXL2	ORPHA:572333
HP:0033799	Abnormal circulating sex hormone concentration	367	AR	ORPHA:90797
HP:0033799	Abnormal circulating sex hormone concentration	54766	BTG4	OMIM:619009
HP:0033799	Abnormal circulating sex hormone concentration	11128	POLR3A	ORPHA:3455
HP:0033799	Abnormal circulating sex hormone concentration	6875	TAF4B	OMIM:615841
HP:0033799	Abnormal circulating sex hormone concentration	84225	ZMYND15	OMIM:615842
HP:0033799	Abnormal circulating sex hormone concentration	2099	ESR1	ORPHA:785
HP:0033799	Abnormal circulating sex hormone concentration	93426	SYCE1	OMIM:616950
HP:0033799	Abnormal circulating sex hormone concentration	8468	FKBP6	OMIM:620103
HP:0033799	Abnormal circulating sex hormone concentration	84690	SPATA22	OMIM:621001
HP:0033799	Abnormal circulating sex hormone concentration	4438	MSH4	OMIM:108420
HP:0033799	Abnormal circulating sex hormone concentration	2908	NR3C1	ORPHA:786
HP:0033799	Abnormal circulating sex hormone concentration	201134	CEP112	OMIM:619044
HP:0033799	Abnormal circulating sex hormone concentration	2778	GNAS	ORPHA:562
HP:0033799	Abnormal circulating sex hormone concentration	7026	NR2F2	OMIM:618901
HP:0033799	Abnormal circulating sex hormone concentration	54361	WNT4	ORPHA:247768
HP:0033799	Abnormal circulating sex hormone concentration	7840	ALMS1	ORPHA:64
HP:0033799	Abnormal circulating sex hormone concentration	3643	INSR	ORPHA:769
HP:0033799	Abnormal circulating sex hormone concentration	29929	ALG6	ORPHA:79320
HP:0033799	Abnormal circulating sex hormone concentration	1584	CYP11B1	ORPHA:90795
HP:0033799	Abnormal circulating sex hormone concentration	84133	ZNRF3	ORPHA:1501
HP:0033799	Abnormal circulating sex hormone concentration	7157	TP53	ORPHA:1501
HP:0033799	Abnormal circulating sex hormone concentration	5573	PRKAR1A	ORPHA:1501
HP:0033799	Abnormal circulating sex hormone concentration	1499	CTNNB1	ORPHA:1501
HP:0033799	Abnormal circulating sex hormone concentration	1029	CDKN2A	ORPHA:1501
HP:0033799	Abnormal circulating sex hormone concentration	7015	TERT	ORPHA:1501
HP:0033799	Abnormal circulating sex hormone concentration	1528	CYB5A	ORPHA:90796
HP:0033799	Abnormal circulating sex hormone concentration	1586	CYP17A1	ORPHA:90796
HP:0033799	Abnormal circulating sex hormone concentration	1583	CYP11A1	ORPHA:289548
HP:0033799	Abnormal circulating sex hormone concentration	1583	CYP11A1	ORPHA:168558
HP:0033799	Abnormal circulating sex hormone concentration	4791	NFKB2	ORPHA:293978
HP:0033799	Abnormal circulating sex hormone concentration	5447	POR	ORPHA:95699
HP:0033799	Abnormal circulating sex hormone concentration	56246	MRAP	ORPHA:361
HP:0033799	Abnormal circulating sex hormone concentration	6770	STAR	ORPHA:361
HP:0033799	Abnormal circulating sex hormone concentration	4158	MC2R	ORPHA:361
HP:0033799	Abnormal circulating sex hormone concentration	23530	NNT	ORPHA:361
HP:0033799	Abnormal circulating sex hormone concentration	10587	TXNRD2	ORPHA:361
HP:0033799	Abnormal circulating sex hormone concentration	2260	FGFR1	ORPHA:432
HP:0033799	Abnormal circulating sex hormone concentration	81848	SPRY4	ORPHA:432
HP:0033799	Abnormal circulating sex hormone concentration	128674	PROKR2	ORPHA:432
HP:0033799	Abnormal circulating sex hormone concentration	2253	FGF8	ORPHA:432
HP:0033799	Abnormal circulating sex hormone concentration	60675	PROK2	ORPHA:432
HP:0033799	Abnormal circulating sex hormone concentration	55636	CHD7	ORPHA:432
HP:0033799	Abnormal circulating sex hormone concentration	6870	TACR3	ORPHA:432
HP:0033799	Abnormal circulating sex hormone concentration	1848	DUSP6	ORPHA:432
HP:0033799	Abnormal circulating sex hormone concentration	26012	NSMF	ORPHA:432
HP:0033799	Abnormal circulating sex hormone concentration	55717	WDR11	ORPHA:432
HP:0033799	Abnormal circulating sex hormone concentration	4808	NHLH2	ORPHA:432
HP:0033799	Abnormal circulating sex hormone concentration	9394	HS6ST1	ORPHA:432
HP:0033799	Abnormal circulating sex hormone concentration	2798	GNRHR	ORPHA:432
HP:0033799	Abnormal circulating sex hormone concentration	84634	KISS1R	ORPHA:432
HP:0033799	Abnormal circulating sex hormone concentration	6866	TAC3	ORPHA:432
HP:0033799	Abnormal circulating sex hormone concentration	6866	TAC3	OMIM:614839
HP:0033799	Abnormal circulating sex hormone concentration	8822	FGF17	ORPHA:432
HP:0033799	Abnormal circulating sex hormone concentration	55131	RBM28	ORPHA:157954
HP:0033799	Abnormal circulating sex hormone concentration	2245	FGD1	OMIM:305400
HP:0033799	Abnormal circulating sex hormone concentration	23312	DMXL2	ORPHA:453533
HP:0033799	Abnormal circulating sex hormone concentration	10908	PNPLA6	OMIM:215470
HP:0033799	Abnormal circulating sex hormone concentration	3972	LHB	OMIM:228300
HP:0033799	Abnormal circulating sex hormone concentration	1363	CPE	OMIM:619326
HP:0033799	Abnormal circulating sex hormone concentration	5422	POLA1	ORPHA:163976
HP:0033799	Abnormal circulating sex hormone concentration	4081	MAB21L1	ORPHA:495875
HP:0033799	Abnormal circulating sex hormone concentration	57697	FANCM	OMIM:618086
HP:0033799	Abnormal circulating sex hormone concentration	654	BMP6	ORPHA:465508
HP:0033799	Abnormal circulating sex hormone concentration	3077	HFE	ORPHA:465508
HP:0033799	Abnormal circulating sex hormone concentration	55366	LGR4	OMIM:619613
HP:0033799	Abnormal circulating sex hormone concentration	2583	B4GALNT1	ORPHA:101006
HP:0033799	Abnormal circulating sex hormone concentration	2583	B4GALNT1	OMIM:609195
HP:0033799	Abnormal circulating sex hormone concentration	3730	ANOS1	OMIM:308700
HP:0033799	Abnormal circulating sex hormone concentration	93953	GCNA	OMIM:301077
HP:0033799	Abnormal circulating sex hormone concentration	80067	DCAF17	OMIM:241080
HP:0033799	Abnormal circulating sex hormone concentration	55630	SLC39A4	OMIM:201100
HP:0033799	Abnormal circulating sex hormone concentration	3284	HSD3B2	ORPHA:90791
HP:0000485	Megalocornea	3981	LIG4	ORPHA:235
HP:0000485	Megalocornea	54888	NSUN2	ORPHA:235
HP:0000485	Megalocornea	5295	PIK3R1	OMIM:269880
HP:0000485	Megalocornea	5295	PIK3R1	ORPHA:3163
HP:0000485	Megalocornea	26277	TINF2	OMIM:268130
HP:0000485	Megalocornea	7010	TEK	OMIM:617272
HP:0000485	Megalocornea	7010	TEK	ORPHA:98976
HP:0000485	Megalocornea	26128	KIFBP	OMIM:609460
HP:0000485	Megalocornea	84168	ANTXR1	OMIM:230740
HP:0000485	Megalocornea	4519	MT-CYB	ORPHA:137675
HP:0000485	Megalocornea	6804	STX1A	ORPHA:904
HP:0000485	Megalocornea	7461	CLIP2	ORPHA:904
HP:0000485	Megalocornea	84277	DNAJC30	ORPHA:904
HP:0000485	Megalocornea	8468	FKBP6	ORPHA:904
HP:0000485	Megalocornea	5982	RFC2	ORPHA:904
HP:0000485	Megalocornea	2969	GTF2I	ORPHA:904
HP:0000485	Megalocornea	3984	LIMK1	ORPHA:904
HP:0000485	Megalocornea	9569	GTF2IRD1	ORPHA:904
HP:0000485	Megalocornea	155382	VPS37D	ORPHA:904
HP:0000485	Megalocornea	155368	METTL27	ORPHA:904
HP:0000485	Megalocornea	114049	BUD23	ORPHA:904
HP:0000485	Megalocornea	7458	EIF4H	ORPHA:904
HP:0000485	Megalocornea	84163	GTF2IRD2	ORPHA:904
HP:0000485	Megalocornea	26608	TBL2	ORPHA:904
HP:0000485	Megalocornea	653361	NCF1	ORPHA:904
HP:0000485	Megalocornea	135886	TMEM270	ORPHA:904
HP:0000485	Megalocornea	9031	BAZ1B	ORPHA:904
HP:0000485	Megalocornea	2006	ELN	ORPHA:904
HP:0000485	Megalocornea	91851	CHRDL1	OMIM:309300
HP:0000485	Megalocornea	55624	POMGNT1	OMIM:253280
HP:0000485	Megalocornea	55624	POMGNT1	ORPHA:370959
HP:0000485	Megalocornea	5308	PITX2	OMIM:180500
HP:0000485	Megalocornea	2263	FGFR2	ORPHA:313855
HP:0000485	Megalocornea	2200	FBN1	ORPHA:284979
HP:0000485	Megalocornea	3778	KCNMA1	OMIM:618729
HP:0000485	Megalocornea	1009	CDH11	OMIM:211380
HP:0000485	Megalocornea	29925	GMPPB	ORPHA:370959
HP:0000485	Megalocornea	79147	FKRP	ORPHA:370959
HP:0000485	Megalocornea	79147	FKRP	OMIM:236670
HP:0000485	Megalocornea	29954	POMT2	ORPHA:370959
HP:0000485	Megalocornea	29954	POMT2	OMIM:236670
HP:0000485	Megalocornea	84197	POMK	ORPHA:370959
HP:0000485	Megalocornea	10585	POMT1	ORPHA:370959
HP:0000485	Megalocornea	10585	POMT1	OMIM:236670
HP:0000485	Megalocornea	10815	CPLX1	ORPHA:280
HP:0000485	Megalocornea	54872	PIGG	ORPHA:280
HP:0000485	Megalocornea	7469	NELFA	ORPHA:280
HP:0000485	Megalocornea	1487	CTBP1	ORPHA:280
HP:0000485	Megalocornea	3954	LETM1	ORPHA:280
HP:0000485	Megalocornea	7468	NSD2	ORPHA:280
HP:0000485	Megalocornea	4094	MAF	ORPHA:1272
HP:0000485	Megalocornea	5515	PPP2CA	OMIM:618354
HP:0000485	Megalocornea	285590	SH3PXD2B	OMIM:249420
HP:0000485	Megalocornea	11107	PRDM5	OMIM:614170
HP:0000485	Megalocornea	1301	COL11A1	OMIM:228520
HP:0000485	Megalocornea	2245	FGD1	ORPHA:915
HP:0000485	Megalocornea	1545	CYP1B1	ORPHA:98976
HP:0000485	Megalocornea	4053	LTBP2	ORPHA:98976
HP:0000485	Megalocornea	4053	LTBP2	OMIM:251750
HP:0000485	Megalocornea	4653	MYOC	ORPHA:98976
HP:0000485	Megalocornea	79158	GNPTAB	OMIM:252500
HP:0000485	Megalocornea	2218	FKTN	OMIM:236670
HP:0000485	Megalocornea	9215	LARGE1	OMIM:236670
HP:0007661	Abnormality of chorioretinal pigmentation	7439	BEST1	OMIM:193220
HP:0007661	Abnormality of chorioretinal pigmentation	355	FAS	ORPHA:3437
HP:0007661	Abnormality of chorioretinal pigmentation	26191	PTPN22	ORPHA:3437
HP:0007661	Abnormality of chorioretinal pigmentation	65082	VPS33A	OMIM:617303
HP:0007661	Abnormality of chorioretinal pigmentation	6492	SIM1	ORPHA:398079
HP:0007661	Abnormality of chorioretinal pigmentation	54551	MAGEL2	ORPHA:398069
HP:0007661	Abnormality of chorioretinal pigmentation	3458	IFNG	ORPHA:805
HP:0007661	Abnormality of chorioretinal pigmentation	7248	TSC1	ORPHA:805
HP:0007661	Abnormality of chorioretinal pigmentation	7249	TSC2	ORPHA:805
HP:0007661	Abnormality of chorioretinal pigmentation	5080	PAX6	OMIM:106210
HP:0007661	Abnormality of chorioretinal pigmentation	7490	WT1	OMIM:106210
HP:0007661	Abnormality of chorioretinal pigmentation	1638	DCT	OMIM:619165
HP:0007661	Abnormality of chorioretinal pigmentation	10166	SLC25A15	ORPHA:415
HP:0007661	Abnormality of chorioretinal pigmentation	125988	MICOS13	OMIM:618329
HP:0007661	Abnormality of chorioretinal pigmentation	4942	OAT	ORPHA:414
HP:0007759	Opacification of the corneal stroma	1497	CTNS	ORPHA:411641
HP:0007759	Opacification of the corneal stroma	1497	CTNS	OMIM:219800
HP:0007759	Opacification of the corneal stroma	1497	CTNS	OMIM:219900
HP:0007759	Opacification of the corneal stroma	1497	CTNS	ORPHA:411634
HP:0007759	Opacification of the corneal stroma	1497	CTNS	ORPHA:411629
HP:0007759	Opacification of the corneal stroma	1497	CTNS	OMIM:219750
HP:0007759	Opacification of the corneal stroma	285440	CYP4V2	OMIM:210370
HP:0007759	Opacification of the corneal stroma	80781	COL18A1	OMIM:267750
HP:0007759	Opacification of the corneal stroma	8671	SLC4A4	OMIM:604278
HP:0007759	Opacification of the corneal stroma	64127	NOD2	OMIM:186580
HP:0007759	Opacification of the corneal stroma	30813	VSX1	OMIM:614195
HP:0007759	Opacification of the corneal stroma	6775	STAT4	ORPHA:85410
HP:0007759	Opacification of the corneal stroma	3560	IL2RB	ORPHA:85410
HP:0007759	Opacification of the corneal stroma	79722	ANKRD55	ORPHA:85410
HP:0007759	Opacification of the corneal stroma	26191	PTPN22	ORPHA:85410
HP:0007759	Opacification of the corneal stroma	919	CD247	ORPHA:85410
HP:0007759	Opacification of the corneal stroma	3559	IL2RA	ORPHA:85410
HP:0007759	Opacification of the corneal stroma	5771	PTPN2	ORPHA:85410
HP:0007759	Opacification of the corneal stroma	58495	OVOL2	OMIM:122000
HP:0007759	Opacification of the corneal stroma	182	JAG1	OMIM:118450
HP:0007759	Opacification of the corneal stroma	2778	GNAS	ORPHA:79443
HP:0007759	Opacification of the corneal stroma	11081	KERA	OMIM:217300
HP:0007759	Opacification of the corneal stroma	55315	SLC29A3	OMIM:602782
HP:0007759	Opacification of the corneal stroma	55315	SLC29A3	ORPHA:168569
HP:0007759	Opacification of the corneal stroma	255738	PCSK9	OMIM:603776
HP:0007759	Opacification of the corneal stroma	338	APOB	OMIM:144010
HP:0007759	Opacification of the corneal stroma	336	APOA2	OMIM:143890
HP:0007759	Opacification of the corneal stroma	2053	EPHX2	OMIM:143890
HP:0007759	Opacification of the corneal stroma	10842	PPP1R17	OMIM:143890
HP:0007759	Opacification of the corneal stroma	3949	LDLR	OMIM:143890
HP:0007759	Opacification of the corneal stroma	2690	GHR	OMIM:143890
HP:0007759	Opacification of the corneal stroma	3990	LIPC	OMIM:614025
HP:0007759	Opacification of the corneal stroma	91851	CHRDL1	OMIM:309300
HP:0007759	Opacification of the corneal stroma	5832	ALDH18A1	OMIM:219150
HP:0007759	Opacification of the corneal stroma	348	APOE	ORPHA:412
HP:0007759	Opacification of the corneal stroma	64241	ABCG8	OMIM:210250
HP:0007759	Opacification of the corneal stroma	5309	PITX3	OMIM:107250
HP:0007759	Opacification of the corneal stroma	2074	ERCC6	OMIM:133540
HP:0007759	Opacification of the corneal stroma	83959	SLC4A11	OMIM:217700
HP:0007759	Opacification of the corneal stroma	83959	SLC4A11	OMIM:217400
HP:0007759	Opacification of the corneal stroma	6309	SC5D	ORPHA:46059
HP:0007759	Opacification of the corneal stroma	59341	TRPV4	OMIM:184095
HP:0007759	Opacification of the corneal stroma	2588	GALNS	OMIM:253000
HP:0007759	Opacification of the corneal stroma	5080	PAX6	ORPHA:2334
HP:0007759	Opacification of the corneal stroma	5080	PAX6	ORPHA:708
HP:0007759	Opacification of the corneal stroma	5080	PAX6	OMIM:148190
HP:0007759	Opacification of the corneal stroma	5080	PAX6	OMIM:106210
HP:0007759	Opacification of the corneal stroma	114548	NLRP3	OMIM:148200
HP:0007759	Opacification of the corneal stroma	5828	PEX2	OMIM:614866
HP:0007759	Opacification of the corneal stroma	4166	CHST6	ORPHA:98969
HP:0007759	Opacification of the corneal stroma	19	ABCA1	OMIM:205400
HP:0007759	Opacification of the corneal stroma	19	ABCA1	ORPHA:425
HP:0007759	Opacification of the corneal stroma	55624	POMGNT1	OMIM:253280
HP:0007759	Opacification of the corneal stroma	1545	CYP1B1	ORPHA:708
HP:0007759	Opacification of the corneal stroma	2301	FOXE3	ORPHA:708
HP:0007759	Opacification of the corneal stroma	5308	PITX2	ORPHA:708
HP:0007759	Opacification of the corneal stroma	2296	FOXC1	ORPHA:708
HP:0007759	Opacification of the corneal stroma	84942	WDR73	OMIM:251300
HP:0007759	Opacification of the corneal stroma	4693	NDP	OMIM:310600
HP:0007759	Opacification of the corneal stroma	5830	PEX5	OMIM:214110
HP:0007759	Opacification of the corneal stroma	7045	TGFBI	ORPHA:98963
HP:0007759	Opacification of the corneal stroma	7045	TGFBI	ORPHA:98960
HP:0007759	Opacification of the corneal stroma	7045	TGFBI	OMIM:608470
HP:0007759	Opacification of the corneal stroma	335	APOA1	ORPHA:425
HP:0007759	Opacification of the corneal stroma	6720	SREBF1	OMIM:158310
HP:0007759	Opacification of the corneal stroma	51360	MBTPS2	OMIM:308205
HP:0007759	Opacification of the corneal stroma	2312	FLG	ORPHA:461
HP:0007759	Opacification of the corneal stroma	412	STS	ORPHA:461
HP:0007759	Opacification of the corneal stroma	412	STS	OMIM:308100
HP:0007759	Opacification of the corneal stroma	51715	RAB23	OMIM:201000
HP:0007759	Opacification of the corneal stroma	11041	B4GAT1	OMIM:615287
HP:0007759	Opacification of the corneal stroma	162514	TRPV3	OMIM:614594
HP:0007759	Opacification of the corneal stroma	2720	GLB1	OMIM:230650
HP:0007759	Opacification of the corneal stroma	2720	GLB1	OMIM:253010
HP:0007759	Opacification of the corneal stroma	100506658	OCLN	OMIM:251290
HP:0007759	Opacification of the corneal stroma	50485	SMARCAL1	OMIM:242900
HP:0007759	Opacification of the corneal stroma	326	AIRE	ORPHA:3453
HP:0007759	Opacification of the corneal stroma	1161	ERCC8	OMIM:216400
HP:0007759	Opacification of the corneal stroma	79158	GNPTAB	OMIM:252500
HP:0007759	Opacification of the corneal stroma	79158	GNPTAB	OMIM:252600
HP:0007759	Opacification of the corneal stroma	5476	CTSA	OMIM:256540
HP:0007759	Opacification of the corneal stroma	5189	PEX1	OMIM:214100
HP:0007759	Opacification of the corneal stroma	427	ASAH1	ORPHA:333
HP:0007759	Opacification of the corneal stroma	84572	GNPTG	OMIM:252605
HP:0007759	Opacification of the corneal stroma	4668	NAGA	ORPHA:79280
HP:0007759	Opacification of the corneal stroma	57192	MCOLN1	OMIM:252650
HP:0007759	Opacification of the corneal stroma	157570	ESCO2	OMIM:268300
HP:0007759	Opacification of the corneal stroma	3931	LCAT	OMIM:136120
HP:0007759	Opacification of the corneal stroma	3845	KRAS	OMIM:600268
HP:0007759	Opacification of the corneal stroma	3977	LIFR	OMIM:601559
HP:0007759	Opacification of the corneal stroma	54101	RIPK4	OMIM:263650
HP:0007759	Opacification of the corneal stroma	338917	VSX2	OMIM:610093
HP:0007759	Opacification of the corneal stroma	4914	NTRK1	OMIM:256800
HP:0007759	Opacification of the corneal stroma	2629	GBA1	OMIM:231005
HP:0007759	Opacification of the corneal stroma	6399	TRAPPC2	OMIM:313400
HP:0007759	Opacification of the corneal stroma	3425	IDUA	OMIM:607014
HP:0007759	Opacification of the corneal stroma	7490	WT1	OMIM:106210
HP:0007759	Opacification of the corneal stroma	2068	ERCC2	ORPHA:910
HP:0007759	Opacification of the corneal stroma	7507	XPA	ORPHA:910
HP:0007759	Opacification of the corneal stroma	2071	ERCC3	ORPHA:910
HP:0007759	Opacification of the corneal stroma	7508	XPC	ORPHA:910
HP:0007759	Opacification of the corneal stroma	1643	DDB2	ORPHA:910
HP:0007759	Opacification of the corneal stroma	2072	ERCC4	ORPHA:910
HP:0007759	Opacification of the corneal stroma	2073	ERCC5	ORPHA:910
HP:0007759	Opacification of the corneal stroma	29914	UBIAD1	OMIM:121800
HP:0007759	Opacification of the corneal stroma	3859	KRT12	OMIM:122100
HP:0007759	Opacification of the corneal stroma	5696	PSMB8	OMIM:256040
HP:0007759	Opacification of the corneal stroma	4313	MMP2	OMIM:259600
HP:0007759	Opacification of the corneal stroma	4070	TACSTD2	ORPHA:98957
HP:0000528	Anophthalmia	64840	PORCN	OMIM:305600
HP:0000528	Anophthalmia	341640	FREM2	ORPHA:2052
HP:0000528	Anophthalmia	80144	FRAS1	ORPHA:2052
HP:0000528	Anophthalmia	80144	FRAS1	OMIM:219000
HP:0000528	Anophthalmia	23426	GRIP1	ORPHA:2052
HP:0000528	Anophthalmia	23347	SMCHD1	ORPHA:2250
HP:0000528	Anophthalmia	54880	BCOR	OMIM:309800
HP:0000528	Anophthalmia	54880	BCOR	OMIM:300166
HP:0000528	Anophthalmia	8260	NAA10	OMIM:309800
HP:0000528	Anophthalmia	220	ALDH1A3	OMIM:615113
HP:0000528	Anophthalmia	79848	CSPP1	OMIM:615636
HP:0000528	Anophthalmia	79848	CSPP1	ORPHA:564
HP:0000528	Anophthalmia	30062	RAX	OMIM:611038
HP:0000528	Anophthalmia	85440	DOCK7	ORPHA:411986
HP:0000528	Anophthalmia	10586	MAB21L2	OMIM:615877
HP:0000528	Anophthalmia	10992	SF3B2	OMIM:164210
HP:0000528	Anophthalmia	64220	STRA6	OMIM:601186
HP:0000528	Anophthalmia	64220	STRA6	ORPHA:2470
HP:0000528	Anophthalmia	6469	SHH	OMIM:611638
HP:0000528	Anophthalmia	6469	SHH	OMIM:147250
HP:0000528	Anophthalmia	1161	ERCC8	ORPHA:90321
HP:0000528	Anophthalmia	1161	ERCC8	ORPHA:90322
HP:0000528	Anophthalmia	2072	ERCC4	ORPHA:90321
HP:0000528	Anophthalmia	2074	ERCC6	ORPHA:90321
HP:0000528	Anophthalmia	2074	ERCC6	ORPHA:90322
HP:0000528	Anophthalmia	2067	ERCC1	ORPHA:90322
HP:0000528	Anophthalmia	2736	GLI2	OMIM:610829
HP:0000528	Anophthalmia	158326	FREM1	OMIM:248450
HP:0000528	Anophthalmia	158326	FREM1	ORPHA:2717
HP:0000528	Anophthalmia	3832	KIF11	ORPHA:2526
HP:0000528	Anophthalmia	5915	RARB	OMIM:615524
HP:0000528	Anophthalmia	5915	RARB	ORPHA:2470
HP:0000528	Anophthalmia	64093	SMOC1	OMIM:206920
HP:0000528	Anophthalmia	55636	CHD7	ORPHA:138
HP:0000528	Anophthalmia	55636	CHD7	OMIM:214800
HP:0000528	Anophthalmia	9723	SEMA3E	ORPHA:138
HP:0000528	Anophthalmia	2187	FANCB	ORPHA:3412
HP:0000528	Anophthalmia	84892	POMGNT2	ORPHA:899
HP:0000528	Anophthalmia	148789	B3GALNT2	ORPHA:899
HP:0000528	Anophthalmia	79147	FKRP	ORPHA:899
HP:0000528	Anophthalmia	29954	POMT2	ORPHA:899
HP:0000528	Anophthalmia	9215	LARGE1	ORPHA:899
HP:0000528	Anophthalmia	1282	COL4A1	ORPHA:899
HP:0000528	Anophthalmia	729920	CRPPA	ORPHA:899
HP:0000528	Anophthalmia	10329	RXYLT1	ORPHA:899
HP:0000528	Anophthalmia	1605	DAG1	ORPHA:899
HP:0000528	Anophthalmia	11041	B4GAT1	ORPHA:899
HP:0000528	Anophthalmia	10585	POMT1	ORPHA:899
HP:0000528	Anophthalmia	84197	POMK	ORPHA:899
HP:0000528	Anophthalmia	2218	FKTN	ORPHA:899
HP:0000528	Anophthalmia	55624	POMGNT1	ORPHA:899
HP:0000528	Anophthalmia	6657	SOX2	ORPHA:77298
HP:0000528	Anophthalmia	6657	SOX2	OMIM:206900
HP:0000528	Anophthalmia	652	BMP4	ORPHA:139471
HP:0000528	Anophthalmia	652	BMP4	OMIM:607932
HP:0000528	Anophthalmia	7477	WNT7B	ORPHA:2470
HP:0000528	Anophthalmia	81788	NUAK2	OMIM:619452
HP:0000528	Anophthalmia	5950	RBP4	OMIM:616428
HP:0000528	Anophthalmia	5015	OTX2	OMIM:610125
HP:0000528	Anophthalmia	54539	NDUFB11	ORPHA:2556
HP:0000528	Anophthalmia	1349	COX7B	ORPHA:2556
HP:0000528	Anophthalmia	3052	HCCS	ORPHA:2556
HP:0000528	Anophthalmia	7020	TFAP2A	OMIM:113620
HP:0000528	Anophthalmia	84314	TMEM107	ORPHA:564
HP:0000528	Anophthalmia	26123	TCTN3	ORPHA:564
HP:0000528	Anophthalmia	79867	TCTN2	ORPHA:564
HP:0000528	Anophthalmia	79867	TCTN2	OMIM:613885
HP:0000528	Anophthalmia	80776	B9D2	ORPHA:564
HP:0000528	Anophthalmia	79600	TCTN1	ORPHA:564
HP:0000528	Anophthalmia	57096	RPGRIP1	ORPHA:564
HP:0000528	Anophthalmia	80184	CEP290	ORPHA:564
HP:0000528	Anophthalmia	51259	TMEM216	ORPHA:564
HP:0000528	Anophthalmia	57545	CC2D2A	ORPHA:564
HP:0000528	Anophthalmia	79583	TMEM231	ORPHA:564
HP:0000528	Anophthalmia	91147	TMEM67	ORPHA:564
HP:0000528	Anophthalmia	79770	TXNDC15	ORPHA:564
HP:0000528	Anophthalmia	27077	B9D1	ORPHA:564
HP:0000528	Anophthalmia	23322	RPGRIP1L	ORPHA:564
HP:0000528	Anophthalmia	54903	MKS1	ORPHA:564
HP:0000528	Anophthalmia	65062	TMEM237	ORPHA:564
HP:0000528	Anophthalmia	219844	HYLS1	ORPHA:2189
HP:0000528	Anophthalmia	374654	KIF7	ORPHA:2189
HP:0000528	Anophthalmia	4990	SIX6	OMIM:206900
HP:0007665	Curly eyelashes	6768	ST14	OMIM:602400
HP:0007665	Curly eyelashes	1857	DVL3	ORPHA:3107
HP:0007665	Curly eyelashes	7474	WNT5A	ORPHA:3107
HP:0007665	Curly eyelashes	1855	DVL1	ORPHA:3107
HP:0007665	Curly eyelashes	2535	FZD2	ORPHA:3107
HP:0007665	Curly eyelashes	23476	BRD4	ORPHA:199
HP:0007665	Curly eyelashes	9126	SMC3	ORPHA:199
HP:0007665	Curly eyelashes	9126	SMC3	OMIM:610759
HP:0007665	Curly eyelashes	8243	SMC1A	ORPHA:199
HP:0007665	Curly eyelashes	6878	TAF6	ORPHA:199
HP:0007665	Curly eyelashes	25836	NIPBL	ORPHA:199
HP:0007665	Curly eyelashes	25836	NIPBL	OMIM:122470
HP:0007665	Curly eyelashes	55869	HDAC8	ORPHA:199
HP:0007665	Curly eyelashes	5885	RAD21	ORPHA:199
HP:0007665	Curly eyelashes	6595	SMARCA2	ORPHA:3051
HP:0007665	Curly eyelashes	10735	STAG2	OMIM:301022
HP:0007665	Curly eyelashes	3764	KCNJ8	ORPHA:1517
HP:0007665	Curly eyelashes	10060	ABCC9	ORPHA:1517
HP:0007665	Curly eyelashes	10060	ABCC9	OMIM:239850
HP:0007787	Posterior subcapsular cataract	64132	XYLT2	OMIM:605822
HP:0007787	Posterior subcapsular cataract	346007	EYS	OMIM:602772
HP:0007787	Posterior subcapsular cataract	346007	EYS	ORPHA:791
HP:0007787	Posterior subcapsular cataract	7287	TULP1	OMIM:600132
HP:0007787	Posterior subcapsular cataract	7287	TULP1	ORPHA:791
HP:0007787	Posterior subcapsular cataract	7287	TULP1	OMIM:613843
HP:0007787	Posterior subcapsular cataract	7840	ALMS1	ORPHA:64
HP:0007787	Posterior subcapsular cataract	92840	REEP6	ORPHA:791
HP:0007787	Posterior subcapsular cataract	92840	REEP6	OMIM:617304
HP:0007787	Posterior subcapsular cataract	6094	ROM1	ORPHA:791
HP:0007787	Posterior subcapsular cataract	6017	RLBP1	ORPHA:791
HP:0007787	Posterior subcapsular cataract	7401	CLRN1	ORPHA:791
HP:0007787	Posterior subcapsular cataract	24	ABCA4	ORPHA:791
HP:0007787	Posterior subcapsular cataract	130557	ZNF513	ORPHA:791
HP:0007787	Posterior subcapsular cataract	582	BBS1	ORPHA:791
HP:0007787	Posterior subcapsular cataract	92211	CDHR1	ORPHA:791
HP:0007787	Posterior subcapsular cataract	23568	ARL2BP	ORPHA:791
HP:0007787	Posterior subcapsular cataract	23568	ARL2BP	OMIM:615434
HP:0007787	Posterior subcapsular cataract	6121	RPE65	ORPHA:791
HP:0007787	Posterior subcapsular cataract	6121	RPE65	ORPHA:364055
HP:0007787	Posterior subcapsular cataract	54806	AHI1	ORPHA:791
HP:0007787	Posterior subcapsular cataract	6101	RP1	ORPHA:791
HP:0007787	Posterior subcapsular cataract	3419	IDH3A	ORPHA:791
HP:0007787	Posterior subcapsular cataract	4751	NEK2	ORPHA:791
HP:0007787	Posterior subcapsular cataract	8100	IFT88	ORPHA:791
HP:0007787	Posterior subcapsular cataract	23020	SNRNP200	ORPHA:791
HP:0007787	Posterior subcapsular cataract	762	CA4	ORPHA:791
HP:0007787	Posterior subcapsular cataract	138050	HGSNAT	ORPHA:791
HP:0007787	Posterior subcapsular cataract	196	AHR	ORPHA:791
HP:0007787	Posterior subcapsular cataract	3614	IMPDH1	ORPHA:791
HP:0007787	Posterior subcapsular cataract	3614	IMPDH1	OMIM:180105
HP:0007787	Posterior subcapsular cataract	123016	TTC8	ORPHA:791
HP:0007787	Posterior subcapsular cataract	6103	RPGR	ORPHA:791
HP:0007787	Posterior subcapsular cataract	1406	CRX	ORPHA:791
HP:0007787	Posterior subcapsular cataract	5148	PDE6G	ORPHA:791
HP:0007787	Posterior subcapsular cataract	26160	IFT172	ORPHA:791
HP:0007787	Posterior subcapsular cataract	26121	PRPF31	ORPHA:791
HP:0007787	Posterior subcapsular cataract	583	BBS2	ORPHA:791
HP:0007787	Posterior subcapsular cataract	4117	MAK	ORPHA:791
HP:0007787	Posterior subcapsular cataract	25794	FSCN2	ORPHA:791
HP:0007787	Posterior subcapsular cataract	375298	CERKL	ORPHA:791
HP:0007787	Posterior subcapsular cataract	3420	IDH3B	ORPHA:791
HP:0007787	Posterior subcapsular cataract	3420	IDH3B	OMIM:612572
HP:0007787	Posterior subcapsular cataract	57670	KIAA1549	ORPHA:791
HP:0007787	Posterior subcapsular cataract	7275	TUB	ORPHA:791
HP:0007787	Posterior subcapsular cataract	24148	PRPF6	ORPHA:791
HP:0007787	Posterior subcapsular cataract	24148	PRPF6	OMIM:613983
HP:0007787	Posterior subcapsular cataract	23418	CRB1	ORPHA:791
HP:0007787	Posterior subcapsular cataract	10461	MERTK	ORPHA:791
HP:0007787	Posterior subcapsular cataract	57709	SLC7A14	ORPHA:791
HP:0007787	Posterior subcapsular cataract	768206	PRCD	ORPHA:791
HP:0007787	Posterior subcapsular cataract	7399	USH2A	ORPHA:791
HP:0007787	Posterior subcapsular cataract	23370	ARHGEF18	ORPHA:791
HP:0007787	Posterior subcapsular cataract	5949	RBP3	ORPHA:791
HP:0007787	Posterior subcapsular cataract	5949	RBP3	OMIM:615233
HP:0007787	Posterior subcapsular cataract	6010	RHO	ORPHA:791
HP:0007787	Posterior subcapsular cataract	6100	RP9	ORPHA:791
HP:0007787	Posterior subcapsular cataract	10002	NR2E3	ORPHA:791
HP:0007787	Posterior subcapsular cataract	10002	NR2E3	OMIM:611131
HP:0007787	Posterior subcapsular cataract	9227	LRAT	ORPHA:791
HP:0007787	Posterior subcapsular cataract	9227	LRAT	ORPHA:364055
HP:0007787	Posterior subcapsular cataract	84140	FAM161A	ORPHA:791
HP:0007787	Posterior subcapsular cataract	55812	SPATA7	ORPHA:791
HP:0007787	Posterior subcapsular cataract	55812	SPATA7	ORPHA:364055
HP:0007787	Posterior subcapsular cataract	55624	POMGNT1	ORPHA:791
HP:0007787	Posterior subcapsular cataract	79797	ZNF408	ORPHA:791
HP:0007787	Posterior subcapsular cataract	79797	ZNF408	OMIM:616469
HP:0007787	Posterior subcapsular cataract	403	ARL3	ORPHA:791
HP:0007787	Posterior subcapsular cataract	403	ARL3	OMIM:618173
HP:0007787	Posterior subcapsular cataract	5145	PDE6A	ORPHA:791
HP:0007787	Posterior subcapsular cataract	5145	PDE6A	OMIM:613810
HP:0007787	Posterior subcapsular cataract	10210	TOPORS	ORPHA:791
HP:0007787	Posterior subcapsular cataract	8842	PROM1	ORPHA:791
HP:0007787	Posterior subcapsular cataract	9128	PRPF4	ORPHA:791
HP:0007787	Posterior subcapsular cataract	145226	RDH12	ORPHA:791
HP:0007787	Posterior subcapsular cataract	50939	IMPG2	ORPHA:791
HP:0007787	Posterior subcapsular cataract	50939	IMPG2	OMIM:613581
HP:0007787	Posterior subcapsular cataract	57545	CC2D2A	ORPHA:791
HP:0007787	Posterior subcapsular cataract	8481	OFD1	ORPHA:791
HP:0007787	Posterior subcapsular cataract	8481	OFD1	OMIM:300424
HP:0007787	Posterior subcapsular cataract	49855	SCAPER	ORPHA:791
HP:0007787	Posterior subcapsular cataract	49855	SCAPER	OMIM:618195
HP:0007787	Posterior subcapsular cataract	9742	IFT140	ORPHA:791
HP:0007787	Posterior subcapsular cataract	2979	GUCA1B	ORPHA:791
HP:0007787	Posterior subcapsular cataract	1259	CNGA1	ORPHA:791
HP:0007787	Posterior subcapsular cataract	1258	CNGB1	ORPHA:791
HP:0007787	Posterior subcapsular cataract	60509	AGBL5	ORPHA:791
HP:0007787	Posterior subcapsular cataract	5961	PRPH2	ORPHA:791
HP:0007787	Posterior subcapsular cataract	388939	PCARE	ORPHA:791
HP:0007787	Posterior subcapsular cataract	7439	BEST1	ORPHA:791
HP:0007787	Posterior subcapsular cataract	9785	DHX38	ORPHA:791
HP:0007787	Posterior subcapsular cataract	5995	RGR	ORPHA:791
HP:0007787	Posterior subcapsular cataract	9129	PRPF3	ORPHA:791
HP:0007787	Posterior subcapsular cataract	55975	KLHL7	ORPHA:791
HP:0007787	Posterior subcapsular cataract	3617	IMPG1	ORPHA:791
HP:0007787	Posterior subcapsular cataract	94137	RP1L1	ORPHA:791
HP:0007787	Posterior subcapsular cataract	5158	PDE6B	ORPHA:791
HP:0007787	Posterior subcapsular cataract	6102	RP2	ORPHA:791
HP:0007787	Posterior subcapsular cataract	55857	KIZ	ORPHA:791
HP:0007787	Posterior subcapsular cataract	64218	SEMA4A	ORPHA:791
HP:0007787	Posterior subcapsular cataract	4901	NRL	ORPHA:791
HP:0007787	Posterior subcapsular cataract	157657	CFAP418	ORPHA:791
HP:0007787	Posterior subcapsular cataract	10594	PRPF8	ORPHA:791
HP:0007787	Posterior subcapsular cataract	84100	ARL6	ORPHA:791
HP:0007787	Posterior subcapsular cataract	6295	SAG	ORPHA:791
HP:0007787	Posterior subcapsular cataract	79947	DHDDS	ORPHA:791
HP:0007787	Posterior subcapsular cataract	2703	GJA8	OMIM:116200
HP:0007787	Posterior subcapsular cataract	84265	POLR3GL	OMIM:619234
HP:0007787	Posterior subcapsular cataract	80207	OPA3	ORPHA:67036
HP:0007787	Posterior subcapsular cataract	83932	SPRTN	OMIM:616200
HP:0007787	Posterior subcapsular cataract	57096	RPGRIP1	OMIM:608194
HP:0007787	Posterior subcapsular cataract	57096	RPGRIP1	OMIM:613826
HP:0007787	Posterior subcapsular cataract	170692	ADAMTS18	OMIM:615458
HP:0007787	Posterior subcapsular cataract	7555	CNBP	ORPHA:606
HP:0007787	Posterior subcapsular cataract	7555	CNBP	OMIM:602668
HP:0007787	Posterior subcapsular cataract	128866	CHMP4B	OMIM:605387
HP:0007787	Posterior subcapsular cataract	4942	OAT	OMIM:258870
HP:0007787	Posterior subcapsular cataract	4796	TONSL	OMIM:271510
HP:0007787	Posterior subcapsular cataract	167691	LCA5	ORPHA:364055
HP:0007787	Posterior subcapsular cataract	1121	CHM	ORPHA:180
HP:0007787	Posterior subcapsular cataract	755	CFAP410	OMIM:617547
HP:0007787	Posterior subcapsular cataract	355	FAS	ORPHA:3437
HP:0007787	Posterior subcapsular cataract	26191	PTPN22	ORPHA:3437
HP:0007787	Posterior subcapsular cataract	146862	UNC45B	OMIM:616279
HP:0007787	Posterior subcapsular cataract	129880	BBS5	OMIM:615983
HP:0007787	Posterior subcapsular cataract	4771	NF2	ORPHA:637
HP:0007787	Posterior subcapsular cataract	4771	NF2	OMIM:101000
HP:0007667	Peripheral cystoid retinal degeneration	6247	RS1	OMIM:312700
HP:0007668	Impaired pursuit initiation and maintenance	55157	DARS2	ORPHA:137898
HP:0007668	Impaired pursuit initiation and maintenance	6908	TBP	OMIM:607136
HP:0007678	Lacrimal duct stenosis	7291	TWIST1	ORPHA:794
HP:0007678	Lacrimal duct stenosis	2263	FGFR2	ORPHA:794
HP:0007678	Lacrimal duct stenosis	2261	FGFR3	ORPHA:794
HP:0007678	Lacrimal duct stenosis	9968	MED12	OMIM:301068
HP:0007678	Lacrimal duct stenosis	7528	YY1	ORPHA:506358
HP:0007678	Lacrimal duct stenosis	9791	PTDSS1	OMIM:151050
HP:0007678	Lacrimal duct stenosis	10262	SF3B4	OMIM:154400
HP:0007678	Lacrimal duct stenosis	2138	EYA1	OMIM:113650
HP:0007678	Lacrimal duct stenosis	6495	SIX1	OMIM:113650
HP:0007678	Lacrimal duct stenosis	6495	SIX1	OMIM:608389
HP:0007678	Lacrimal duct stenosis	5075	PAX1	OMIM:615560
HP:0007678	Lacrimal duct stenosis	6949	TCOF1	OMIM:154500
HP:0007678	Lacrimal duct stenosis	7994	KAT6A	OMIM:616268
HP:0007678	Lacrimal duct stenosis	7994	KAT6A	ORPHA:457193
HP:0007678	Lacrimal duct stenosis	25836	NIPBL	OMIM:122470
HP:0007678	Lacrimal duct stenosis	200424	TET3	OMIM:618798
HP:0007678	Lacrimal duct stenosis	5500	PPP1CB	OMIM:617506
HP:0007678	Lacrimal duct stenosis	200734	SPRED2	OMIM:619745
HP:0007678	Lacrimal duct stenosis	90417	KNSTRN	OMIM:613328
HP:0007678	Lacrimal duct stenosis	90417	KNSTRN	ORPHA:221139
HP:0007678	Lacrimal duct stenosis	5293	PIK3CD	OMIM:613328
HP:0007678	Lacrimal duct stenosis	5293	PIK3CD	ORPHA:221139
HP:0007678	Lacrimal duct stenosis	8626	TP63	OMIM:604292
HP:0007678	Lacrimal duct stenosis	977	CD151	OMIM:609057
HP:0030502	Retinoschisis	4942	OAT	OMIM:258870
HP:0030502	Retinoschisis	83552	MFRP	OMIM:611040
HP:0030502	Retinoschisis	10002	NR2E3	OMIM:268100
HP:0030502	Retinoschisis	2673	GFPT1	OMIM:610542
HP:0030502	Retinoschisis	6247	RS1	ORPHA:792
HP:0030502	Retinoschisis	6247	RS1	OMIM:312700
HP:0030502	Retinoschisis	1181	CLCN2	OMIM:615651
HP:0030502	Retinoschisis	71	ACTG1	ORPHA:2995
HP:0030502	Retinoschisis	60	ACTB	ORPHA:2995
HP:0030501	Macular crystals	138050	HGSNAT	OMIM:616544
HP:0030501	Macular crystals	224	ALDH3A2	OMIM:270200
HP:0030500	Yellow/white lesions of the macula	7439	BEST1	ORPHA:99000
HP:0030500	Yellow/white lesions of the macula	50939	IMPG2	ORPHA:99000
HP:0030500	Yellow/white lesions of the macula	50939	IMPG2	OMIM:616152
HP:0030500	Yellow/white lesions of the macula	3617	IMPG1	ORPHA:99000
HP:0030500	Yellow/white lesions of the macula	3617	IMPG1	OMIM:616151
HP:0030500	Yellow/white lesions of the macula	9094	UNC119	OMIM:620342
HP:0030500	Yellow/white lesions of the macula	348	APOE	OMIM:603075
HP:0030500	Yellow/white lesions of the macula	10878	CFHR3	OMIM:603075
HP:0030500	Yellow/white lesions of the macula	83872	HMCN1	OMIM:603075
HP:0030500	Yellow/white lesions of the macula	3078	CFHR1	OMIM:603075
HP:0030500	Yellow/white lesions of the macula	2202	EFEMP1	ORPHA:75376
HP:0030500	Yellow/white lesions of the macula	3075	CFH	ORPHA:75376
HP:0030500	Yellow/white lesions of the macula	3426	CFI	ORPHA:75376
HP:0030500	Yellow/white lesions of the macula	8842	PROM1	ORPHA:827
HP:0030500	Yellow/white lesions of the macula	5961	PRPH2	ORPHA:827
HP:0030500	Yellow/white lesions of the macula	6785	ELOVL4	ORPHA:827
HP:0030500	Yellow/white lesions of the macula	24	ABCA4	ORPHA:827
HP:0030500	Yellow/white lesions of the macula	54714	CNGB3	ORPHA:827
HP:0030500	Yellow/white lesions of the macula	7078	TIMP3	ORPHA:59181
HP:0030500	Yellow/white lesions of the macula	138050	HGSNAT	OMIM:616544
HP:0030500	Yellow/white lesions of the macula	224	ALDH3A2	OMIM:270200
HP:0007670	Abnormal vestibulo-ocular reflex	773	CACNA1A	OMIM:183086
HP:0007670	Abnormal vestibulo-ocular reflex	2259	FGF14	OMIM:193003
HP:0007670	Abnormal vestibulo-ocular reflex	81790	RNF170	OMIM:608984
HP:0007670	Abnormal vestibulo-ocular reflex	5981	RFC1	OMIM:614575
HP:0007670	Abnormal vestibulo-ocular reflex	5981	RFC1	ORPHA:504476
HP:0007670	Abnormal vestibulo-ocular reflex	3735	KARS1	ORPHA:3240
HP:0007670	Abnormal vestibulo-ocular reflex	83715	ESPN	OMIM:609006
HP:0007670	Abnormal vestibulo-ocular reflex	53405	CLIC5	OMIM:616042
HP:0007670	Abnormal vestibulo-ocular reflex	2395	FXN	ORPHA:95
HP:0000617	Abnormality of ocular smooth pursuit	2782	GNB1	OMIM:616973
HP:0000617	Abnormality of ocular smooth pursuit	4361	MRE11	ORPHA:251347
HP:0000617	Abnormality of ocular smooth pursuit	3708	ITPR1	OMIM:117360
HP:0000617	Abnormality of ocular smooth pursuit	51259	TMEM216	OMIM:608091
HP:0000617	Abnormality of ocular smooth pursuit	56623	INPP5E	OMIM:213300
HP:0000617	Abnormality of ocular smooth pursuit	255928	SYT14	ORPHA:284271
HP:0000617	Abnormality of ocular smooth pursuit	5621	PRNP	ORPHA:157941
HP:0000617	Abnormality of ocular smooth pursuit	11128	POLR3A	OMIM:607694
HP:0000617	Abnormality of ocular smooth pursuit	11128	POLR3A	ORPHA:447896
HP:0000617	Abnormality of ocular smooth pursuit	55703	POLR3B	OMIM:607694
HP:0000617	Abnormality of ocular smooth pursuit	4287	ATXN3	OMIM:109150
HP:0000617	Abnormality of ocular smooth pursuit	1938	EEF2	OMIM:609306
HP:0000617	Abnormality of ocular smooth pursuit	1938	EEF2	ORPHA:101112
HP:0000617	Abnormality of ocular smooth pursuit	6310	ATXN1	OMIM:164400
HP:0000617	Abnormality of ocular smooth pursuit	6311	ATXN2	OMIM:183090
HP:0000617	Abnormality of ocular smooth pursuit	6812	STXBP1	OMIM:612164
HP:0000617	Abnormality of ocular smooth pursuit	1200	TPP1	ORPHA:284324
HP:0000617	Abnormality of ocular smooth pursuit	1200	TPP1	OMIM:609270
HP:0000617	Abnormality of ocular smooth pursuit	55129	ANO10	ORPHA:284289
HP:0000617	Abnormality of ocular smooth pursuit	8913	CACNA1G	ORPHA:458803
HP:0000617	Abnormality of ocular smooth pursuit	8913	CACNA1G	OMIM:616795
HP:0000617	Abnormality of ocular smooth pursuit	10273	STUB1	ORPHA:412057
HP:0000617	Abnormality of ocular smooth pursuit	7515	XRCC1	OMIM:617633
HP:0000617	Abnormality of ocular smooth pursuit	23533	PIK3R5	ORPHA:64753
HP:0000617	Abnormality of ocular smooth pursuit	23064	SETX	ORPHA:64753
HP:0000617	Abnormality of ocular smooth pursuit	23064	SETX	OMIM:606002
HP:0000617	Abnormality of ocular smooth pursuit	57679	ALS2	OMIM:606353
HP:0000617	Abnormality of ocular smooth pursuit	7345	UCHL1	OMIM:620221
HP:0000617	Abnormality of ocular smooth pursuit	3752	KCND3	OMIM:607346
HP:0000617	Abnormality of ocular smooth pursuit	23203	PMPCA	OMIM:213200
HP:0000617	Abnormality of ocular smooth pursuit	57410	SCYL1	ORPHA:466794
HP:0000617	Abnormality of ocular smooth pursuit	5582	PRKCG	ORPHA:98763
HP:0000617	Abnormality of ocular smooth pursuit	773	CACNA1A	OMIM:108500
HP:0000617	Abnormality of ocular smooth pursuit	1822	ATN1	ORPHA:101
HP:0000617	Abnormality of ocular smooth pursuit	2332	FMR1	OMIM:300623
HP:0000617	Abnormality of ocular smooth pursuit	81790	RNF170	OMIM:619686
HP:0000617	Abnormality of ocular smooth pursuit	10935	PRDX3	OMIM:619862
HP:0000617	Abnormality of ocular smooth pursuit	23503	ZFYVE26	ORPHA:100996
HP:0000617	Abnormality of ocular smooth pursuit	54664	TMEM106B	OMIM:617964
HP:0000617	Abnormality of ocular smooth pursuit	80208	SPG11	ORPHA:2822
HP:0000617	Abnormality of ocular smooth pursuit	5981	RFC1	OMIM:614575
HP:0000617	Abnormality of ocular smooth pursuit	2705	GJB1	ORPHA:1175
HP:0000617	Abnormality of ocular smooth pursuit	492	ATP2B3	ORPHA:314978
HP:0000617	Abnormality of ocular smooth pursuit	9711	RUBCN	OMIM:615705
HP:0000617	Abnormality of ocular smooth pursuit	9711	RUBCN	ORPHA:404499
HP:0000617	Abnormality of ocular smooth pursuit	6904	TBCD	ORPHA:496641
HP:0000617	Abnormality of ocular smooth pursuit	6904	TBCD	OMIM:617193
HP:0000617	Abnormality of ocular smooth pursuit	8818	DPM2	ORPHA:329178
HP:0000617	Abnormality of ocular smooth pursuit	5917	RARS1	OMIM:616140
HP:0000617	Abnormality of ocular smooth pursuit	5917	RARS1	ORPHA:438114
HP:0000617	Abnormality of ocular smooth pursuit	55157	DARS2	ORPHA:137898
HP:0000617	Abnormality of ocular smooth pursuit	6908	TBP	OMIM:607136
HP:0000617	Abnormality of ocular smooth pursuit	7518	XRCC4	OMIM:616541
HP:0000617	Abnormality of ocular smooth pursuit	4125	MAN2B1	OMIM:248500
HP:0000617	Abnormality of ocular smooth pursuit	23345	SYNE1	ORPHA:88644
HP:0000617	Abnormality of ocular smooth pursuit	54974	THG1L	OMIM:618800
HP:0000617	Abnormality of ocular smooth pursuit	283989	TSEN54	OMIM:277470
HP:0000617	Abnormality of ocular smooth pursuit	5048	PAFAH1B1	ORPHA:95232
HP:0000617	Abnormality of ocular smooth pursuit	724066	ATXN8	ORPHA:98760
HP:0000617	Abnormality of ocular smooth pursuit	724066	ATXN8	OMIM:608768
HP:0000617	Abnormality of ocular smooth pursuit	6315	ATXN8OS	ORPHA:98760
HP:0000617	Abnormality of ocular smooth pursuit	6315	ATXN8OS	OMIM:608768
HP:0000617	Abnormality of ocular smooth pursuit	25814	ATXN10	ORPHA:98761
HP:0000617	Abnormality of ocular smooth pursuit	25814	ATXN10	OMIM:603516
HP:0000617	Abnormality of ocular smooth pursuit	463	ZFHX3	OMIM:600223
HP:0000617	Abnormality of ocular smooth pursuit	5162	PDHB	ORPHA:255138
HP:0000617	Abnormality of ocular smooth pursuit	2512	FTL	ORPHA:157846
HP:0000617	Abnormality of ocular smooth pursuit	6712	SPTBN2	OMIM:600224
HP:0000617	Abnormality of ocular smooth pursuit	10528	NOP56	OMIM:614153
HP:0000617	Abnormality of ocular smooth pursuit	5192	PEX10	OMIM:614871
HP:0000617	Abnormality of ocular smooth pursuit	5192	PEX10	ORPHA:247815
HP:0000617	Abnormality of ocular smooth pursuit	10352	WARS2	ORPHA:572798
HP:0000617	Abnormality of ocular smooth pursuit	2259	FGF14	OMIM:193003
HP:0000617	Abnormality of ocular smooth pursuit	3781	KCNN2	OMIM:619724
HP:0000617	Abnormality of ocular smooth pursuit	7287	TULP1	OMIM:613843
HP:0000617	Abnormality of ocular smooth pursuit	8398	PLA2G6	OMIM:610217
HP:0000617	Abnormality of ocular smooth pursuit	6785	ELOVL4	OMIM:133190
HP:0000617	Abnormality of ocular smooth pursuit	26278	SACS	OMIM:270550
HP:0000617	Abnormality of ocular smooth pursuit	3703	STT3A	ORPHA:370921
HP:0000617	Abnormality of ocular smooth pursuit	339453	TMEM240	OMIM:607454
HP:0000617	Abnormality of ocular smooth pursuit	16	AARS1	OMIM:619691
HP:0000617	Abnormality of ocular smooth pursuit	146057	TTBK2	OMIM:604432
HP:0000617	Abnormality of ocular smooth pursuit	146057	TTBK2	ORPHA:98767
HP:0000617	Abnormality of ocular smooth pursuit	3748	KCNC3	OMIM:605259
HP:0000617	Abnormality of ocular smooth pursuit	3748	KCNC3	ORPHA:98768
HP:0000617	Abnormality of ocular smooth pursuit	23646	PLD3	OMIM:617770
HP:0000617	Abnormality of ocular smooth pursuit	54834	GDAP2	OMIM:618369
HP:0000617	Abnormality of ocular smooth pursuit	57704	GBA2	ORPHA:320391
HP:0000617	Abnormality of ocular smooth pursuit	57704	GBA2	OMIM:614409
HP:0100018	Nuclear cataract	7431	VIM	OMIM:116300
HP:0100018	Nuclear cataract	2702	GJA5	OMIM:612474
HP:0100018	Nuclear cataract	1415	CRYBB2	OMIM:601547
HP:0100018	Nuclear cataract	3299	HSF4	OMIM:116800
HP:0100018	Nuclear cataract	4810	NHS	OMIM:302350
HP:0100018	Nuclear cataract	4810	NHS	OMIM:302200
HP:0100018	Nuclear cataract	2703	GJA8	OMIM:116200
HP:0100018	Nuclear cataract	1427	CRYGS	OMIM:116100
HP:0100018	Nuclear cataract	631	BFSP1	OMIM:611391
HP:0100018	Nuclear cataract	4284	MIP	OMIM:615274
HP:0100018	Nuclear cataract	7466	WFS1	OMIM:116400
HP:0100018	Nuclear cataract	10002	NR2E3	OMIM:611131
HP:0100018	Nuclear cataract	79797	ZNF408	OMIM:616468
HP:0100018	Nuclear cataract	2202	EFEMP1	OMIM:611276
HP:0100018	Nuclear cataract	1413	CRYBA4	OMIM:610425
HP:0100018	Nuclear cataract	1417	CRYBB3	OMIM:609741
HP:0100018	Nuclear cataract	128866	CHMP4B	OMIM:605387
HP:0100018	Nuclear cataract	1411	CRYBA1	OMIM:600881
HP:0100018	Nuclear cataract	1420	CRYGC	OMIM:604307
HP:0100018	Nuclear cataract	2512	FTL	OMIM:600886
HP:0100018	Nuclear cataract	50939	IMPG2	OMIM:613581
HP:0100018	Nuclear cataract	755	CFAP410	OMIM:617547
HP:0100018	Nuclear cataract	10216	PRG4	ORPHA:2848
HP:0100018	Nuclear cataract	4598	MVK	OMIM:610377
HP:0100018	Nuclear cataract	2697	GJA1	ORPHA:1010
HP:0100018	Nuclear cataract	1414	CRYBB1	OMIM:611544
HP:0100018	Nuclear cataract	6513	SLC2A1	OMIM:608885
HP:0100018	Nuclear cataract	79443	FYCO1	OMIM:610019
HP:0100018	Nuclear cataract	2584	GALK1	ORPHA:79237
HP:0008028	Cystoid macular degeneration	10002	NR2E3	OMIM:611131
HP:0008028	Cystoid macular degeneration	7439	BEST1	ORPHA:1243
HP:0008028	Cystoid macular degeneration	7439	BEST1	OMIM:153700
HP:0000495	Recurrent corneal erosions	8518	ELP1	OMIM:223900
HP:0000495	Recurrent corneal erosions	7045	TGFBI	ORPHA:98960
HP:0000495	Recurrent corneal erosions	7045	TGFBI	OMIM:121820
HP:0000495	Recurrent corneal erosions	7045	TGFBI	ORPHA:98962
HP:0000495	Recurrent corneal erosions	7045	TGFBI	ORPHA:98963
HP:0000495	Recurrent corneal erosions	7045	TGFBI	OMIM:122200
HP:0000495	Recurrent corneal erosions	7045	TGFBI	ORPHA:98964
HP:0000495	Recurrent corneal erosions	1497	CTNS	OMIM:219800
HP:0000495	Recurrent corneal erosions	51360	MBTPS2	OMIM:308205
HP:0000495	Recurrent corneal erosions	4166	CHST6	OMIM:217800
HP:0000495	Recurrent corneal erosions	4166	CHST6	ORPHA:98969
HP:0000495	Recurrent corneal erosions	2303	FOXC2	OMIM:153400
HP:0000495	Recurrent corneal erosions	4358	MPV17	OMIM:256810
HP:0000495	Recurrent corneal erosions	2263	FGFR2	OMIM:149730
HP:0000495	Recurrent corneal erosions	2263	FGFR2	ORPHA:2363
HP:0000495	Recurrent corneal erosions	4914	NTRK1	OMIM:256800
HP:0000495	Recurrent corneal erosions	2706	GJB2	OMIM:148210
HP:0000495	Recurrent corneal erosions	2261	FGFR3	ORPHA:2363
HP:0000495	Recurrent corneal erosions	2255	FGF10	ORPHA:2363
HP:0000495	Recurrent corneal erosions	3850	KRT3	OMIM:618767
HP:0000495	Recurrent corneal erosions	1308	COL17A1	ORPHA:293381
HP:0007675	Progressive night blindness	51109	RDH11	ORPHA:436245
HP:0007675	Progressive night blindness	3000	GUCY2D	OMIM:601777
HP:0007675	Progressive night blindness	5961	PRPH2	ORPHA:52427
HP:0007675	Progressive night blindness	5961	PRPH2	ORPHA:791
HP:0007675	Progressive night blindness	6017	RLBP1	ORPHA:52427
HP:0007675	Progressive night blindness	6017	RLBP1	ORPHA:791
HP:0007675	Progressive night blindness	6010	RHO	ORPHA:52427
HP:0007675	Progressive night blindness	6010	RHO	ORPHA:791
HP:0007675	Progressive night blindness	5959	RDH5	ORPHA:52427
HP:0007675	Progressive night blindness	56623	INPP5E	ORPHA:75858
HP:0007675	Progressive night blindness	92840	REEP6	ORPHA:791
HP:0007675	Progressive night blindness	6094	ROM1	ORPHA:791
HP:0007675	Progressive night blindness	7401	CLRN1	ORPHA:791
HP:0007675	Progressive night blindness	24	ABCA4	ORPHA:791
HP:0007675	Progressive night blindness	130557	ZNF513	ORPHA:791
HP:0007675	Progressive night blindness	582	BBS1	ORPHA:791
HP:0007675	Progressive night blindness	92211	CDHR1	ORPHA:791
HP:0007675	Progressive night blindness	23568	ARL2BP	ORPHA:791
HP:0007675	Progressive night blindness	6121	RPE65	ORPHA:791
HP:0007675	Progressive night blindness	54806	AHI1	ORPHA:791
HP:0007675	Progressive night blindness	6101	RP1	ORPHA:791
HP:0007675	Progressive night blindness	3419	IDH3A	ORPHA:791
HP:0007675	Progressive night blindness	4751	NEK2	ORPHA:791
HP:0007675	Progressive night blindness	346007	EYS	ORPHA:791
HP:0007675	Progressive night blindness	8100	IFT88	ORPHA:791
HP:0007675	Progressive night blindness	23020	SNRNP200	ORPHA:791
HP:0007675	Progressive night blindness	762	CA4	ORPHA:791
HP:0007675	Progressive night blindness	138050	HGSNAT	ORPHA:791
HP:0007675	Progressive night blindness	196	AHR	ORPHA:791
HP:0007675	Progressive night blindness	196	AHR	OMIM:618345
HP:0007675	Progressive night blindness	3614	IMPDH1	ORPHA:791
HP:0007675	Progressive night blindness	123016	TTC8	ORPHA:791
HP:0007675	Progressive night blindness	6103	RPGR	ORPHA:791
HP:0007675	Progressive night blindness	1406	CRX	ORPHA:791
HP:0007675	Progressive night blindness	5148	PDE6G	ORPHA:791
HP:0007675	Progressive night blindness	26160	IFT172	ORPHA:791
HP:0007675	Progressive night blindness	26121	PRPF31	ORPHA:791
HP:0007675	Progressive night blindness	583	BBS2	ORPHA:791
HP:0007675	Progressive night blindness	4117	MAK	ORPHA:791
HP:0007675	Progressive night blindness	25794	FSCN2	ORPHA:791
HP:0007675	Progressive night blindness	375298	CERKL	ORPHA:791
HP:0007675	Progressive night blindness	3420	IDH3B	ORPHA:791
HP:0007675	Progressive night blindness	57670	KIAA1549	ORPHA:791
HP:0007675	Progressive night blindness	7275	TUB	ORPHA:791
HP:0007675	Progressive night blindness	24148	PRPF6	ORPHA:791
HP:0007675	Progressive night blindness	23418	CRB1	ORPHA:791
HP:0007675	Progressive night blindness	10461	MERTK	ORPHA:791
HP:0007675	Progressive night blindness	57709	SLC7A14	ORPHA:791
HP:0007675	Progressive night blindness	768206	PRCD	ORPHA:791
HP:0007675	Progressive night blindness	7399	USH2A	ORPHA:791
HP:0007675	Progressive night blindness	23370	ARHGEF18	ORPHA:791
HP:0007675	Progressive night blindness	5949	RBP3	ORPHA:791
HP:0007675	Progressive night blindness	6100	RP9	ORPHA:791
HP:0007675	Progressive night blindness	10002	NR2E3	ORPHA:791
HP:0007675	Progressive night blindness	9227	LRAT	ORPHA:791
HP:0007675	Progressive night blindness	84140	FAM161A	ORPHA:791
HP:0007675	Progressive night blindness	55812	SPATA7	ORPHA:791
HP:0007675	Progressive night blindness	55624	POMGNT1	ORPHA:791
HP:0007675	Progressive night blindness	79797	ZNF408	ORPHA:791
HP:0007675	Progressive night blindness	403	ARL3	ORPHA:791
HP:0007675	Progressive night blindness	5145	PDE6A	ORPHA:791
HP:0007675	Progressive night blindness	10210	TOPORS	ORPHA:791
HP:0007675	Progressive night blindness	8842	PROM1	ORPHA:791
HP:0007675	Progressive night blindness	9128	PRPF4	ORPHA:791
HP:0007675	Progressive night blindness	145226	RDH12	ORPHA:791
HP:0007675	Progressive night blindness	50939	IMPG2	ORPHA:791
HP:0007675	Progressive night blindness	57545	CC2D2A	ORPHA:791
HP:0007675	Progressive night blindness	8481	OFD1	ORPHA:791
HP:0007675	Progressive night blindness	49855	SCAPER	ORPHA:791
HP:0007675	Progressive night blindness	9742	IFT140	ORPHA:791
HP:0007675	Progressive night blindness	2979	GUCA1B	ORPHA:791
HP:0007675	Progressive night blindness	1259	CNGA1	ORPHA:791
HP:0007675	Progressive night blindness	1258	CNGB1	ORPHA:791
HP:0007675	Progressive night blindness	60509	AGBL5	ORPHA:791
HP:0007675	Progressive night blindness	388939	PCARE	ORPHA:791
HP:0007675	Progressive night blindness	7439	BEST1	ORPHA:791
HP:0007675	Progressive night blindness	9785	DHX38	ORPHA:791
HP:0007675	Progressive night blindness	7287	TULP1	ORPHA:791
HP:0007675	Progressive night blindness	5995	RGR	ORPHA:791
HP:0007675	Progressive night blindness	9129	PRPF3	ORPHA:791
HP:0007675	Progressive night blindness	55975	KLHL7	ORPHA:791
HP:0007675	Progressive night blindness	3617	IMPG1	ORPHA:791
HP:0007675	Progressive night blindness	94137	RP1L1	ORPHA:791
HP:0007675	Progressive night blindness	5158	PDE6B	ORPHA:791
HP:0007675	Progressive night blindness	6102	RP2	ORPHA:791
HP:0007675	Progressive night blindness	55857	KIZ	ORPHA:791
HP:0007675	Progressive night blindness	64218	SEMA4A	ORPHA:791
HP:0007675	Progressive night blindness	4901	NRL	ORPHA:791
HP:0007675	Progressive night blindness	157657	CFAP418	ORPHA:791
HP:0007675	Progressive night blindness	10594	PRPF8	ORPHA:791
HP:0007675	Progressive night blindness	84100	ARL6	ORPHA:791
HP:0007675	Progressive night blindness	6295	SAG	ORPHA:791
HP:0007675	Progressive night blindness	79947	DHDDS	ORPHA:791
HP:0007675	Progressive night blindness	5456	POU3F4	ORPHA:1435
HP:0007675	Progressive night blindness	4942	OAT	ORPHA:414
HP:0007675	Progressive night blindness	285440	CYP4V2	OMIM:210370
HP:0025252	Geographic tongue	26525	IL36RN	OMIM:614204
HP:0025252	Geographic tongue	26525	IL36RN	ORPHA:247353
HP:0025252	Geographic tongue	130340	AP1S3	ORPHA:247353
HP:0025258	Stiff neck	4000	LMNA	OMIM:181350
HP:0025258	Stiff neck	91754	NEK9	OMIM:617022
HP:0025258	Stiff neck	4722	NDUFS3	OMIM:618230
HP:0025258	Stiff neck	1280	COL2A1	OMIM:616583
HP:0025258	Stiff neck	22943	DKK1	ORPHA:268882
HP:0025258	Stiff neck	54820	NDE1	ORPHA:2177
HP:0025259	Stiff elbow	6926	TBX3	OMIM:181450
HP:0025259	Stiff elbow	26040	SETBP1	ORPHA:798
HP:0007676	Hypoplasia of the iris	92949	ADAMTSL1	ORPHA:521445
HP:0007676	Hypoplasia of the iris	7468	NSD2	OMIM:194190
HP:0007676	Hypoplasia of the iris	10815	CPLX1	OMIM:194190
HP:0007676	Hypoplasia of the iris	1487	CTBP1	OMIM:194190
HP:0007676	Hypoplasia of the iris	53834	FGFRL1	OMIM:194190
HP:0007676	Hypoplasia of the iris	3954	LETM1	OMIM:194190
HP:0007676	Hypoplasia of the iris	3480	IGF1R	OMIM:270450
HP:0007676	Hypoplasia of the iris	9653	HS2ST1	OMIM:619194
HP:0007676	Hypoplasia of the iris	2074	ERCC6	OMIM:133540
HP:0007676	Hypoplasia of the iris	5295	PIK3R1	ORPHA:3163
HP:0007676	Hypoplasia of the iris	2200	FBN1	OMIM:154700
HP:0007676	Hypoplasia of the iris	64840	PORCN	ORPHA:2092
HP:0007676	Hypoplasia of the iris	5080	PAX6	ORPHA:250923
HP:0007676	Hypoplasia of the iris	5080	PAX6	OMIM:604229
HP:0007676	Hypoplasia of the iris	5080	PAX6	OMIM:106210
HP:0007676	Hypoplasia of the iris	2296	FOXC1	ORPHA:250923
HP:0007676	Hypoplasia of the iris	2296	FOXC1	OMIM:602482
HP:0007676	Hypoplasia of the iris	54765	TRIM44	ORPHA:250923
HP:0007676	Hypoplasia of the iris	55733	HHAT	ORPHA:1422
HP:0007676	Hypoplasia of the iris	55733	HHAT	OMIM:600092
HP:0007676	Hypoplasia of the iris	6786	STIM1	OMIM:612783
HP:0007676	Hypoplasia of the iris	27151	CPAMD8	OMIM:617319
HP:0007676	Hypoplasia of the iris	406960	MIR184	OMIM:614303
HP:0007676	Hypoplasia of the iris	1282	COL4A1	OMIM:175780
HP:0007676	Hypoplasia of the iris	5308	PITX2	OMIM:180500
HP:0007676	Hypoplasia of the iris	84942	WDR73	OMIM:251300
HP:0007676	Hypoplasia of the iris	4693	NDP	OMIM:310600
HP:0007676	Hypoplasia of the iris	4693	NDP	ORPHA:649
HP:0007676	Hypoplasia of the iris	3913	LAMB2	OMIM:609049
HP:0007676	Hypoplasia of the iris	4036	LRP2	OMIM:222448
HP:0007676	Hypoplasia of the iris	30813	VSX1	OMIM:614195
HP:0007676	Hypoplasia of the iris	2260	FGFR1	OMIM:613001
HP:0007676	Hypoplasia of the iris	6663	SOX10	OMIM:611584
HP:0007676	Hypoplasia of the iris	3708	ITPR1	OMIM:117360
HP:0007676	Hypoplasia of the iris	3708	ITPR1	OMIM:206700
HP:0007676	Hypoplasia of the iris	7490	WT1	OMIM:106210
HP:0007676	Hypoplasia of the iris	57167	SALL4	ORPHA:233
HP:0007676	Hypoplasia of the iris	9935	MAFB	ORPHA:233
HP:0007676	Hypoplasia of the iris	1123	CHN1	ORPHA:233
HP:0007676	Hypoplasia of the iris	4286	MITF	OMIM:193510
HP:0007676	Hypoplasia of the iris	5077	PAX3	OMIM:193500
HP:0007677	Vitelliform-like macular lesions	5961	PRPH2	OMIM:608161
HP:0007677	Vitelliform-like macular lesions	5961	PRPH2	ORPHA:99000
HP:0007677	Vitelliform-like macular lesions	7439	BEST1	ORPHA:99000
HP:0007677	Vitelliform-like macular lesions	50939	IMPG2	ORPHA:99000
HP:0007677	Vitelliform-like macular lesions	50939	IMPG2	OMIM:616152
HP:0007677	Vitelliform-like macular lesions	3617	IMPG1	ORPHA:99000
HP:0007677	Vitelliform-like macular lesions	3617	IMPG1	OMIM:616151
HP:0011513	Retinal cavernous hemangioma	11235	PDCD10	ORPHA:221061
HP:0011513	Retinal cavernous hemangioma	5290	PIK3CA	ORPHA:221061
HP:0011513	Retinal cavernous hemangioma	83605	CCM2	ORPHA:221061
HP:0011513	Retinal cavernous hemangioma	889	KRIT1	ORPHA:221061
HP:0030507	Retinal crystals	189	AGXT	OMIM:259900
HP:0030506	Yellow/white lesions of the retina	23554	TSPAN12	OMIM:613310
HP:0030506	Yellow/white lesions of the retina	8322	FZD4	OMIM:133780
HP:0030506	Yellow/white lesions of the retina	4041	LRP5	OMIM:133780
HP:0030506	Yellow/white lesions of the retina	4041	LRP5	OMIM:601813
HP:0030506	Yellow/white lesions of the retina	79797	ZNF408	OMIM:616468
HP:0030506	Yellow/white lesions of the retina	25913	POT1	OMIM:620368
HP:0030506	Yellow/white lesions of the retina	11277	TREX1	OMIM:192315
HP:0030506	Yellow/white lesions of the retina	63901	FAM111A	OMIM:127000
HP:0030506	Yellow/white lesions of the retina	63901	FAM111A	ORPHA:93325
HP:0030506	Yellow/white lesions of the retina	5925	RB1	OMIM:180200
HP:0030506	Yellow/white lesions of the retina	80169	CTC1	OMIM:612199
HP:0030506	Yellow/white lesions of the retina	4149	MAX	OMIM:620712
HP:0030506	Yellow/white lesions of the retina	26277	TINF2	OMIM:268130
HP:0030506	Yellow/white lesions of the retina	26277	TINF2	OMIM:613990
HP:0030506	Yellow/white lesions of the retina	22947	DUX4L1	ORPHA:269
HP:0030506	Yellow/white lesions of the retina	1789	DNMT3B	ORPHA:269
HP:0030506	Yellow/white lesions of the retina	2483	FRG1	ORPHA:269
HP:0030506	Yellow/white lesions of the retina	23347	SMCHD1	ORPHA:269
HP:0030506	Yellow/white lesions of the retina	100288687	DUX4	ORPHA:269
HP:0030506	Yellow/white lesions of the retina	4693	NDP	OMIM:305390
HP:0030506	Yellow/white lesions of the retina	7840	ALMS1	ORPHA:64
HP:0030506	Yellow/white lesions of the retina	114902	C1QTNF5	ORPHA:67042
HP:0030506	Yellow/white lesions of the retina	3617	IMPG1	OMIM:616151
HP:0030506	Yellow/white lesions of the retina	83715	ESPN	OMIM:618632
HP:0030506	Yellow/white lesions of the retina	3075	CFH	OMIM:126700
HP:0030506	Yellow/white lesions of the retina	3426	CFI	OMIM:615439
HP:0030506	Yellow/white lesions of the retina	10516	FBLN5	OMIM:608895
HP:0030506	Yellow/white lesions of the retina	1495	CTNNA1	OMIM:608970
HP:0030506	Yellow/white lesions of the retina	3000	GUCY2D	ORPHA:75377
HP:0030506	Yellow/white lesions of the retina	2978	GUCA1A	ORPHA:75377
HP:0030506	Yellow/white lesions of the retina	8842	PROM1	OMIM:603786
HP:0030506	Yellow/white lesions of the retina	7439	BEST1	OMIM:611809
HP:0030506	Yellow/white lesions of the retina	7439	BEST1	OMIM:613194
HP:0030506	Yellow/white lesions of the retina	57096	RPGRIP1	OMIM:613826
HP:0030506	Yellow/white lesions of the retina	5322	PLA2G5	OMIM:228980
HP:0030506	Yellow/white lesions of the retina	26022	TMEM98	OMIM:615972
HP:0030506	Yellow/white lesions of the retina	343035	RD3	ORPHA:65
HP:0030506	Yellow/white lesions of the retina	145226	RDH12	ORPHA:65
HP:0030506	Yellow/white lesions of the retina	145226	RDH12	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	1406	CRX	ORPHA:65
HP:0030506	Yellow/white lesions of the retina	1406	CRX	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	80184	CEP290	ORPHA:65
HP:0030506	Yellow/white lesions of the retina	10383	TUBB4B	ORPHA:65
HP:0030506	Yellow/white lesions of the retina	9742	IFT140	ORPHA:65
HP:0030506	Yellow/white lesions of the retina	9742	IFT140	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	85015	USP45	ORPHA:65
HP:0030506	Yellow/white lesions of the retina	6121	RPE65	ORPHA:65
HP:0030506	Yellow/white lesions of the retina	6121	RPE65	ORPHA:364055
HP:0030506	Yellow/white lesions of the retina	6121	RPE65	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	23418	CRB1	ORPHA:65
HP:0030506	Yellow/white lesions of the retina	23418	CRB1	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	5130	PCYT1A	ORPHA:65
HP:0030506	Yellow/white lesions of the retina	9657	IQCB1	ORPHA:65
HP:0030506	Yellow/white lesions of the retina	392255	GDF6	ORPHA:65
HP:0030506	Yellow/white lesions of the retina	23746	AIPL1	ORPHA:65
HP:0030506	Yellow/white lesions of the retina	9227	LRAT	ORPHA:65
HP:0030506	Yellow/white lesions of the retina	9227	LRAT	ORPHA:364055
HP:0030506	Yellow/white lesions of the retina	9227	LRAT	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	55812	SPATA7	ORPHA:65
HP:0030506	Yellow/white lesions of the retina	55812	SPATA7	ORPHA:364055
HP:0030506	Yellow/white lesions of the retina	55812	SPATA7	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	7287	TULP1	ORPHA:65
HP:0030506	Yellow/white lesions of the retina	7287	TULP1	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	167691	LCA5	ORPHA:65
HP:0030506	Yellow/white lesions of the retina	167691	LCA5	ORPHA:364055
HP:0030506	Yellow/white lesions of the retina	3614	IMPDH1	ORPHA:65
HP:0030506	Yellow/white lesions of the retina	3614	IMPDH1	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	10594	PRPF8	OMIM:600059
HP:0030506	Yellow/white lesions of the retina	10594	PRPF8	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	92840	REEP6	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	6094	ROM1	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	7401	CLRN1	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	130557	ZNF513	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	582	BBS1	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	92211	CDHR1	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	23568	ARL2BP	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	54806	AHI1	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	6101	RP1	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	3419	IDH3A	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	4751	NEK2	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	346007	EYS	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	8100	IFT88	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	23020	SNRNP200	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	762	CA4	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	138050	HGSNAT	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	196	AHR	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	123016	TTC8	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	6103	RPGR	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	5148	PDE6G	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	26160	IFT172	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	26160	IFT172	OMIM:616394
HP:0030506	Yellow/white lesions of the retina	26121	PRPF31	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	583	BBS2	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	4117	MAK	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	25794	FSCN2	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	375298	CERKL	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	3420	IDH3B	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	57670	KIAA1549	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	24148	PRPF6	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	10461	MERTK	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	57709	SLC7A14	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	768206	PRCD	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	7399	USH2A	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	23370	ARHGEF18	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	5949	RBP3	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	6100	RP9	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	10002	NR2E3	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	84140	FAM161A	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	55624	POMGNT1	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	403	ARL3	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	5145	PDE6A	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	10210	TOPORS	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	9128	PRPF4	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	50939	IMPG2	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	8481	OFD1	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	49855	SCAPER	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	2979	GUCA1B	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	1259	CNGA1	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	1258	CNGB1	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	60509	AGBL5	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	388939	PCARE	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	9785	DHX38	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	5995	RGR	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	9129	PRPF3	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	55975	KLHL7	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	94137	RP1L1	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	5158	PDE6B	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	6102	RP2	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	55857	KIZ	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	64218	SEMA4A	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	4901	NRL	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	157657	CFAP418	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	84100	ARL6	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	6295	SAG	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	79947	DHDDS	ORPHA:791
HP:0030506	Yellow/white lesions of the retina	64131	XYLT1	OMIM:264800
HP:0030506	Yellow/white lesions of the retina	64132	XYLT2	OMIM:264800
HP:0030506	Yellow/white lesions of the retina	368	ABCC6	OMIM:264800
HP:0030506	Yellow/white lesions of the retina	83552	MFRP	OMIM:611040
HP:0030506	Yellow/white lesions of the retina	9094	UNC119	OMIM:620342
HP:0030506	Yellow/white lesions of the retina	348	APOE	OMIM:603075
HP:0030506	Yellow/white lesions of the retina	10878	CFHR3	OMIM:603075
HP:0030506	Yellow/white lesions of the retina	83872	HMCN1	OMIM:603075
HP:0030506	Yellow/white lesions of the retina	3078	CFHR1	OMIM:603075
HP:0030506	Yellow/white lesions of the retina	2202	EFEMP1	ORPHA:75376
HP:0030506	Yellow/white lesions of the retina	6785	ELOVL4	ORPHA:827
HP:0030506	Yellow/white lesions of the retina	24	ABCA4	ORPHA:827
HP:0030506	Yellow/white lesions of the retina	54714	CNGB3	ORPHA:827
HP:0030506	Yellow/white lesions of the retina	7078	TIMP3	ORPHA:59181
HP:0030506	Yellow/white lesions of the retina	224	ALDH3A2	OMIM:270200
HP:0030506	Yellow/white lesions of the retina	5961	PRPH2	ORPHA:52427
HP:0030506	Yellow/white lesions of the retina	5961	PRPH2	OMIM:169150
HP:0030506	Yellow/white lesions of the retina	6017	RLBP1	ORPHA:52427
HP:0030506	Yellow/white lesions of the retina	6010	RHO	ORPHA:52427
HP:0030506	Yellow/white lesions of the retina	5959	RDH5	ORPHA:52427
HP:0030506	Yellow/white lesions of the retina	23503	ZFYVE26	ORPHA:100996
HP:0030506	Yellow/white lesions of the retina	4758	NEU1	ORPHA:93400
HP:0030506	Yellow/white lesions of the retina	189	AGXT	OMIM:259900
HP:0030506	Yellow/white lesions of the retina	3769	KCNJ13	OMIM:193230
HP:0030506	Yellow/white lesions of the retina	57545	CC2D2A	OMIM:619845
HP:0030506	Yellow/white lesions of the retina	64802	NMNAT1	OMIM:608553
HP:0030506	Yellow/white lesions of the retina	7275	TUB	OMIM:616188
HP:0030505	Nummular pigmentation of the fundus	57670	KIAA1549	OMIM:618613
HP:0030505	Nummular pigmentation of the fundus	1121	CHM	OMIM:303100
HP:0030505	Nummular pigmentation of the fundus	23418	CRB1	OMIM:613835
HP:0030505	Nummular pigmentation of the fundus	6121	RPE65	OMIM:618697
HP:0030503	Macular telangiectasia	4693	NDP	ORPHA:891
HP:0030503	Macular telangiectasia	1499	CTNNB1	ORPHA:891
HP:0030503	Macular telangiectasia	23554	TSPAN12	ORPHA:891
HP:0030503	Macular telangiectasia	4041	LRP5	ORPHA:891
HP:0030503	Macular telangiectasia	79797	ZNF408	ORPHA:891
HP:0030503	Macular telangiectasia	8322	FZD4	ORPHA:891
HP:0030513	Difficulty adjusting from light to dark	778	CACNA1F	ORPHA:178333
HP:0030512	Difficulty adjusting to changes in luminance	8787	RGS9	OMIM:608415
HP:0030512	Difficulty adjusting to changes in luminance	388531	RGS9BP	OMIM:620344
HP:0030512	Difficulty adjusting to changes in luminance	778	CACNA1F	ORPHA:178333
HP:0030511	Bradyopsia	8787	RGS9	OMIM:608415
HP:0030511	Bradyopsia	388531	RGS9BP	OMIM:620344
HP:0030511	Bradyopsia	773	CACNA1A	ORPHA:98758
HP:0007680	Depigmented fundus	4935	GPR143	OMIM:300500
HP:0007831	Nonprogressive restrictive external ophthalmoplegia	55605	KIF21A	ORPHA:45358
HP:0007831	Nonprogressive restrictive external ophthalmoplegia	347733	TUBB2B	ORPHA:45358
HP:0007831	Nonprogressive restrictive external ophthalmoplegia	7846	TUBA1A	ORPHA:45358
HP:0007831	Nonprogressive restrictive external ophthalmoplegia	401	PHOX2A	ORPHA:45358
HP:0007831	Nonprogressive restrictive external ophthalmoplegia	10381	TUBB3	ORPHA:45358
HP:0007831	Nonprogressive restrictive external ophthalmoplegia	10381	TUBB3	OMIM:600638
HP:0007831	Nonprogressive restrictive external ophthalmoplegia	84570	COL25A1	ORPHA:45358
HP:0007685	Peripheral retinal avascularization	8322	FZD4	OMIM:133780
HP:0007685	Peripheral retinal avascularization	8322	FZD4	ORPHA:891
HP:0007685	Peripheral retinal avascularization	4041	LRP5	OMIM:133780
HP:0007685	Peripheral retinal avascularization	4041	LRP5	ORPHA:891
HP:0007685	Peripheral retinal avascularization	4041	LRP5	OMIM:601813
HP:0007685	Peripheral retinal avascularization	4693	NDP	ORPHA:891
HP:0007685	Peripheral retinal avascularization	4693	NDP	OMIM:305390
HP:0007685	Peripheral retinal avascularization	1499	CTNNB1	ORPHA:891
HP:0007685	Peripheral retinal avascularization	23554	TSPAN12	ORPHA:891
HP:0007685	Peripheral retinal avascularization	79797	ZNF408	ORPHA:891
HP:0007685	Peripheral retinal avascularization	388015	RTL1	ORPHA:96334
HP:0007685	Peripheral retinal avascularization	8788	DLK1	ORPHA:96334
HP:0007685	Peripheral retinal avascularization	55384	MEG3	ORPHA:96334
HP:0025262	Stiff hip	8398	PLA2G6	ORPHA:199351
HP:0025263	Stiff knee	6399	TRAPPC2	ORPHA:93284
HP:0025264	Stiff ankle	1836	SLC26A2	ORPHA:93307
HP:0008480	Cervical spondylosis	5654	HTRA1	ORPHA:199354
HP:0025267	Snoring	27245	AHDC1	ORPHA:412069
HP:0025267	Snoring	27245	AHDC1	OMIM:615829
HP:0025267	Snoring	5332	PLCB4	OMIM:614669
HP:0025267	Snoring	5332	PLCB4	ORPHA:137888
HP:0025267	Snoring	1906	EDN1	ORPHA:137888
HP:0025267	Snoring	2773	GNAI3	ORPHA:137888
HP:0025267	Snoring	2773	GNAI3	OMIM:602483
HP:0025267	Snoring	341208	HEPHL1	OMIM:261990
HP:0025267	Snoring	7543	ZFX	OMIM:301118
HP:0025267	Snoring	83550	GPR101	OMIM:300942
HP:0025267	Snoring	2990	GUSB	OMIM:253220
HP:0025267	Snoring	24142	NAA80	OMIM:620830
HP:0025268	Stuttering	23431	AP4E1	OMIM:184450
HP:0025268	Stuttering	4558	MT-TF	ORPHA:550
HP:0025268	Stuttering	4572	MT-TQ	ORPHA:550
HP:0025268	Stuttering	4512	MT-CO1	ORPHA:550
HP:0025268	Stuttering	4513	MT-CO2	ORPHA:550
HP:0025268	Stuttering	4514	MT-CO3	ORPHA:550
HP:0025268	Stuttering	4578	MT-TW	ORPHA:550
HP:0025268	Stuttering	4540	MT-ND5	ORPHA:550
HP:0025268	Stuttering	4541	MT-ND6	ORPHA:550
HP:0025268	Stuttering	4535	MT-ND1	ORPHA:550
HP:0025268	Stuttering	4538	MT-ND4	ORPHA:550
HP:0025268	Stuttering	4567	MT-TL1	ORPHA:550
HP:0025268	Stuttering	4574	MT-TS1	ORPHA:550
HP:0025268	Stuttering	4575	MT-TS2	ORPHA:550
HP:0025268	Stuttering	4564	MT-TH	ORPHA:550
HP:0025268	Stuttering	284058	KANSL1	ORPHA:363965
HP:0025268	Stuttering	284058	KANSL1	ORPHA:363958
HP:0025268	Stuttering	3074	HEXB	ORPHA:309169
HP:0025268	Stuttering	340533	NEXMIF	OMIM:300912
HP:0025268	Stuttering	64324	NSD1	OMIM:117550
HP:0025268	Stuttering	6999	TDO2	OMIM:600627
HP:0025268	Stuttering	81887	LAS1L	OMIM:309585
HP:0025268	Stuttering	1107	CHD3	OMIM:618205
HP:0025268	Stuttering	4137	MAPT	ORPHA:240112
HP:0025268	Stuttering	57410	SCYL1	OMIM:616719
HP:0025268	Stuttering	57410	SCYL1	ORPHA:466794
HP:0025268	Stuttering	9898	UBAP2L	OMIM:620494
HP:0025269	Panic attack	25792	CIZ1	ORPHA:420492
HP:0025269	Panic attack	6792	CDKL5	ORPHA:3095
HP:0025269	Panic attack	22854	NTNG1	ORPHA:3095
HP:0025269	Panic attack	9568	GABBR2	ORPHA:3095
HP:0025269	Panic attack	4204	MECP2	ORPHA:3095
HP:0025269	Panic attack	8243	SMC1A	ORPHA:3095
HP:0025269	Panic attack	23111	SPART	ORPHA:101000
HP:0025269	Panic attack	84196	USP48	ORPHA:96253
HP:0025269	Panic attack	7157	TP53	ORPHA:96253
HP:0025269	Panic attack	7157	TP53	ORPHA:1501
HP:0025269	Panic attack	9101	USP8	ORPHA:96253
HP:0025269	Panic attack	64072	CDH23	ORPHA:96253
HP:0025269	Panic attack	2908	NR3C1	ORPHA:96253
HP:0025269	Panic attack	673	BRAF	ORPHA:96253
HP:0025269	Panic attack	546	ATRX	ORPHA:96253
HP:0025269	Panic attack	1813	DRD2	ORPHA:36899
HP:0025269	Panic attack	8910	SGCE	ORPHA:36899
HP:0025269	Panic attack	8910	SGCE	OMIM:159900
HP:0025269	Panic attack	79734	KCTD17	ORPHA:36899
HP:0025269	Panic attack	1861	TOR1A	ORPHA:36899
HP:0025269	Panic attack	1387	CREBBP	ORPHA:353281
HP:0025269	Panic attack	1387	CREBBP	ORPHA:353277
HP:0025269	Panic attack	23384	SPECC1L	OMIM:145420
HP:0025269	Panic attack	7428	VHL	ORPHA:29072
HP:0025269	Panic attack	7428	VHL	ORPHA:276621
HP:0025269	Panic attack	1743	DLST	ORPHA:29072
HP:0025269	Panic attack	4191	MDH2	ORPHA:29072
HP:0025269	Panic attack	5979	RET	ORPHA:29072
HP:0025269	Panic attack	5979	RET	ORPHA:276621
HP:0025269	Panic attack	6389	SDHA	ORPHA:29072
HP:0025269	Panic attack	23095	KIF1B	ORPHA:29072
HP:0025269	Panic attack	2271	FH	ORPHA:29072
HP:0025269	Panic attack	8402	SLC25A11	ORPHA:29072
HP:0025269	Panic attack	54949	SDHAF2	ORPHA:29072
HP:0025269	Panic attack	55654	TMEM127	ORPHA:29072
HP:0025269	Panic attack	4763	NF1	ORPHA:29072
HP:0025269	Panic attack	6391	SDHC	ORPHA:29072
HP:0025269	Panic attack	6392	SDHD	ORPHA:29072
HP:0025269	Panic attack	6392	SDHD	ORPHA:276621
HP:0025269	Panic attack	6390	SDHB	ORPHA:29072
HP:0025269	Panic attack	6390	SDHB	ORPHA:276621
HP:0025269	Panic attack	4149	MAX	ORPHA:29072
HP:0025269	Panic attack	2033	EP300	ORPHA:353284
HP:0025269	Panic attack	54832	VPS13C	ORPHA:2828
HP:0025269	Panic attack	11315	PARK7	ORPHA:2828
HP:0025269	Panic attack	7345	UCHL1	ORPHA:2828
HP:0025269	Panic attack	27429	HTRA2	ORPHA:2828
HP:0025269	Panic attack	120892	LRRK2	ORPHA:2828
HP:0025269	Panic attack	9829	DNAJC6	ORPHA:2828
HP:0025269	Panic attack	6622	SNCA	ORPHA:2828
HP:0025269	Panic attack	5420	PODXL	ORPHA:2828
HP:0025269	Panic attack	65018	PINK1	ORPHA:2828
HP:0025269	Panic attack	8867	SYNJ1	ORPHA:2828
HP:0025269	Panic attack	5071	PRKN	ORPHA:2828
HP:0025269	Panic attack	3781	KCNN2	OMIM:619725
HP:0025269	Panic attack	1788	DNMT3A	ORPHA:276621
HP:0025269	Panic attack	2034	EPAS1	ORPHA:276621
HP:0025269	Panic attack	84133	ZNRF3	ORPHA:1501
HP:0025269	Panic attack	5573	PRKAR1A	ORPHA:1501
HP:0025269	Panic attack	1499	CTNNB1	ORPHA:1501
HP:0025269	Panic attack	1029	CDKN2A	ORPHA:1501
HP:0025269	Panic attack	7015	TERT	ORPHA:1501
HP:0007686	Abnormal pupillary function	2074	ERCC6	OMIM:214150
HP:0007686	Abnormal pupillary function	5264	PHYH	ORPHA:773
HP:0007686	Abnormal pupillary function	5264	PHYH	OMIM:266500
HP:0007686	Abnormal pupillary function	5191	PEX7	ORPHA:773
HP:0007686	Abnormal pupillary function	5191	PEX7	OMIM:266500
HP:0007686	Abnormal pupillary function	100996717	NOTCH2NLC	OMIM:619473
HP:0007686	Abnormal pupillary function	100996717	NOTCH2NLC	OMIM:603472
HP:0007686	Abnormal pupillary function	55733	HHAT	ORPHA:1422
HP:0007686	Abnormal pupillary function	22931	RAB18	OMIM:614222
HP:0007686	Abnormal pupillary function	55605	KIF21A	ORPHA:45358
HP:0007686	Abnormal pupillary function	347733	TUBB2B	ORPHA:45358
HP:0007686	Abnormal pupillary function	7846	TUBA1A	ORPHA:45358
HP:0007686	Abnormal pupillary function	401	PHOX2A	ORPHA:45358
HP:0007686	Abnormal pupillary function	10381	TUBB3	ORPHA:45358
HP:0007686	Abnormal pupillary function	84570	COL25A1	ORPHA:45358
HP:0007686	Abnormal pupillary function	91851	CHRDL1	OMIM:309300
HP:0007686	Abnormal pupillary function	4990	SIX6	OMIM:212550
HP:0007686	Abnormal pupillary function	84876	ORAI1	ORPHA:3204
HP:0007686	Abnormal pupillary function	84876	ORAI1	OMIM:615883
HP:0007686	Abnormal pupillary function	6786	STIM1	ORPHA:3204
HP:0007686	Abnormal pupillary function	6786	STIM1	OMIM:185070
HP:0007686	Abnormal pupillary function	1644	DDC	ORPHA:35708
HP:0007686	Abnormal pupillary function	1644	DDC	OMIM:608643
HP:0007686	Abnormal pupillary function	3708	ITPR1	OMIM:117360
HP:0007686	Abnormal pupillary function	23268	DNMBP	OMIM:618415
HP:0007686	Abnormal pupillary function	23095	KIF1B	OMIM:256700
HP:0007686	Abnormal pupillary function	4613	MYCN	ORPHA:635
HP:0007686	Abnormal pupillary function	238	ALK	ORPHA:635
HP:0007686	Abnormal pupillary function	389421	LIN28B	ORPHA:635
HP:0007686	Abnormal pupillary function	4004	LMO1	ORPHA:635
HP:0007686	Abnormal pupillary function	57531	HACE1	ORPHA:635
HP:0007686	Abnormal pupillary function	8929	PHOX2B	ORPHA:635
HP:0007686	Abnormal pupillary function	2783	GNB2	OMIM:619503
HP:0007686	Abnormal pupillary function	5621	PRNP	ORPHA:282166
HP:0007686	Abnormal pupillary function	1512	CTSH	ORPHA:2073
HP:0007686	Abnormal pupillary function	5032	P2RY11	ORPHA:2073
HP:0007686	Abnormal pupillary function	4340	MOG	ORPHA:2073
HP:0007686	Abnormal pupillary function	3119	HLA-DQB1	ORPHA:2073
HP:0007686	Abnormal pupillary function	3060	HCRT	ORPHA:2073
HP:0007686	Abnormal pupillary function	22891	ZNF365	ORPHA:2073
HP:0007686	Abnormal pupillary function	7292	TNFSF4	ORPHA:2073
HP:0007686	Abnormal pupillary function	3123	HLA-DRB1	ORPHA:2073
HP:0007686	Abnormal pupillary function	79628	SH3TC2	OMIM:601596
HP:0007686	Abnormal pupillary function	79628	SH3TC2	ORPHA:99949
HP:0007686	Abnormal pupillary function	22926	ATF6	ORPHA:49382
HP:0007686	Abnormal pupillary function	5146	PDE6C	ORPHA:49382
HP:0007686	Abnormal pupillary function	6103	RPGR	ORPHA:49382
HP:0007686	Abnormal pupillary function	5149	PDE6H	ORPHA:49382
HP:0007686	Abnormal pupillary function	2780	GNAT2	ORPHA:49382
HP:0007686	Abnormal pupillary function	1261	CNGA3	ORPHA:49382
HP:0007686	Abnormal pupillary function	54714	CNGB3	ORPHA:49382
HP:0007686	Abnormal pupillary function	9227	LRAT	ORPHA:364055
HP:0007686	Abnormal pupillary function	55812	SPATA7	ORPHA:364055
HP:0007686	Abnormal pupillary function	6121	RPE65	ORPHA:364055
HP:0007686	Abnormal pupillary function	167691	LCA5	ORPHA:364055
HP:0007686	Abnormal pupillary function	4629	MYH11	OMIM:619351
HP:0007686	Abnormal pupillary function	773	CACNA1A	ORPHA:2131
HP:0007686	Abnormal pupillary function	6507	SLC1A3	ORPHA:2131
HP:0007686	Abnormal pupillary function	477	ATP1A2	ORPHA:2131
HP:0007686	Abnormal pupillary function	478	ATP1A3	ORPHA:2131
HP:0007686	Abnormal pupillary function	59	ACTA2	OMIM:613834
HP:0007686	Abnormal pupillary function	8314	BAP1	ORPHA:39044
HP:0007686	Abnormal pupillary function	57105	CYSLTR2	ORPHA:39044
HP:0007686	Abnormal pupillary function	2776	GNAQ	ORPHA:39044
HP:0007686	Abnormal pupillary function	2767	GNA11	ORPHA:39044
HP:0007686	Abnormal pupillary function	23451	SF3B1	ORPHA:39044
HP:0007686	Abnormal pupillary function	28962	OSTM1	OMIM:259720
HP:0007686	Abnormal pupillary function	4016	LOXL1	OMIM:177650
HP:0007686	Abnormal pupillary function	10398	MYL9	OMIM:619365
HP:0007686	Abnormal pupillary function	79639	TMEM53	OMIM:619727
HP:0007686	Abnormal pupillary function	5192	PEX10	ORPHA:247815
HP:0007686	Abnormal pupillary function	9692	PRORP	OMIM:619737
HP:0007686	Abnormal pupillary function	5376	PMP22	ORPHA:90658
HP:0007686	Abnormal pupillary function	4359	MPZ	OMIM:118200
HP:0007686	Abnormal pupillary function	80781	COL18A1	OMIM:267750
HP:0007686	Abnormal pupillary function	5631	PRPS1	ORPHA:423479
HP:0007686	Abnormal pupillary function	3769	KCNJ13	ORPHA:65
HP:0007686	Abnormal pupillary function	343035	RD3	ORPHA:65
HP:0007686	Abnormal pupillary function	145226	RDH12	ORPHA:65
HP:0007686	Abnormal pupillary function	1406	CRX	ORPHA:65
HP:0007686	Abnormal pupillary function	64802	NMNAT1	ORPHA:65
HP:0007686	Abnormal pupillary function	57096	RPGRIP1	ORPHA:65
HP:0007686	Abnormal pupillary function	57096	RPGRIP1	OMIM:613826
HP:0007686	Abnormal pupillary function	80184	CEP290	ORPHA:65
HP:0007686	Abnormal pupillary function	10383	TUBB4B	ORPHA:65
HP:0007686	Abnormal pupillary function	9742	IFT140	ORPHA:65
HP:0007686	Abnormal pupillary function	85015	USP45	ORPHA:65
HP:0007686	Abnormal pupillary function	23418	CRB1	ORPHA:65
HP:0007686	Abnormal pupillary function	5130	PCYT1A	ORPHA:65
HP:0007686	Abnormal pupillary function	9657	IQCB1	ORPHA:65
HP:0007686	Abnormal pupillary function	392255	GDF6	ORPHA:65
HP:0007686	Abnormal pupillary function	23746	AIPL1	ORPHA:65
HP:0007686	Abnormal pupillary function	3000	GUCY2D	ORPHA:65
HP:0007686	Abnormal pupillary function	7287	TULP1	ORPHA:65
HP:0007686	Abnormal pupillary function	7287	TULP1	OMIM:613843
HP:0007686	Abnormal pupillary function	3614	IMPDH1	ORPHA:65
HP:0007686	Abnormal pupillary function	1136	CHRNA3	OMIM:191800
HP:0007686	Abnormal pupillary function	9255	AIMP1	OMIM:260600
HP:0007686	Abnormal pupillary function	8292	COLQ	ORPHA:98915
HP:0007686	Abnormal pupillary function	3913	LAMB2	ORPHA:98915
HP:0007686	Abnormal pupillary function	2581	GALC	ORPHA:206436
HP:0007686	Abnormal pupillary function	5660	PSAP	ORPHA:206436
HP:0007686	Abnormal pupillary function	1131	CHRM3	OMIM:100100
HP:0007686	Abnormal pupillary function	8518	ELP1	OMIM:223900
HP:0007686	Abnormal pupillary function	1621	DBH	OMIM:223360
HP:0007687	Unilateral ptosis	55027	HEATR3	OMIM:620072
HP:0007687	Unilateral ptosis	22827	PUF60	ORPHA:508498
HP:0007687	Unilateral ptosis	2239	GPC4	OMIM:301026
HP:0007687	Unilateral ptosis	6611	SMS	ORPHA:3063
HP:0007687	Unilateral ptosis	8243	SMC1A	OMIM:301044
HP:0007687	Unilateral ptosis	116931	MED12L	OMIM:618872
HP:0007687	Unilateral ptosis	51434	ANAPC7	OMIM:619699
HP:0007687	Unilateral ptosis	83479	DDX59	OMIM:174300
HP:0007687	Unilateral ptosis	57539	WDR35	OMIM:613610
HP:0007687	Unilateral ptosis	3211	HOXB1	OMIM:614744
HP:0007687	Unilateral ptosis	11043	MID2	OMIM:300928
HP:0007687	Unilateral ptosis	6650	CAPN15	OMIM:619318
HP:0007688	Undetectable light- and dark-adapted electroretinogram	10002	NR2E3	OMIM:611131
HP:0007688	Undetectable light- and dark-adapted electroretinogram	6121	RPE65	OMIM:204100
HP:0007688	Undetectable light- and dark-adapted electroretinogram	375298	CERKL	OMIM:608380
HP:0007688	Undetectable light- and dark-adapted electroretinogram	57096	RPGRIP1	OMIM:608194
HP:0007688	Undetectable light- and dark-adapted electroretinogram	7401	CLRN1	OMIM:614180
HP:0007688	Undetectable light- and dark-adapted electroretinogram	6101	RP1	OMIM:180100
HP:0007688	Undetectable light- and dark-adapted electroretinogram	4508	MT-ATP6	ORPHA:225154
HP:0007688	Undetectable light- and dark-adapted electroretinogram	23636	NUP62	ORPHA:225154
HP:0007688	Undetectable light- and dark-adapted electroretinogram	53371	NUP54	ORPHA:225154
HP:0007688	Undetectable light- and dark-adapted electroretinogram	103	ADAR	ORPHA:225154
HP:0007688	Undetectable light- and dark-adapted electroretinogram	6100	RP9	OMIM:180104
HP:0007688	Undetectable light- and dark-adapted electroretinogram	5130	PCYT1A	ORPHA:85167
HP:0007688	Undetectable light- and dark-adapted electroretinogram	23746	AIPL1	OMIM:604393
HP:0007688	Undetectable light- and dark-adapted electroretinogram	3614	IMPDH1	OMIM:180105
HP:0030517	Heteronymous hemianopia	64072	CDH23	ORPHA:91347
HP:0030517	Heteronymous hemianopia	64072	CDH23	ORPHA:2965
HP:0030517	Heteronymous hemianopia	4221	MEN1	ORPHA:2965
HP:0030517	Heteronymous hemianopia	9049	AIP	ORPHA:2965
HP:0030517	Heteronymous hemianopia	8314	BAP1	ORPHA:2495
HP:0030517	Heteronymous hemianopia	4771	NF2	ORPHA:2495
HP:0030517	Heteronymous hemianopia	6598	SMARCB1	ORPHA:2495
HP:0030517	Heteronymous hemianopia	5155	PDGFB	ORPHA:2495
HP:0030517	Heteronymous hemianopia	84231	TRAF7	ORPHA:2495
HP:0030517	Heteronymous hemianopia	6608	SMO	ORPHA:2495
HP:0030517	Heteronymous hemianopia	207	AKT1	ORPHA:2495
HP:0030517	Heteronymous hemianopia	5290	PIK3CA	ORPHA:2495
HP:0030517	Heteronymous hemianopia	7015	TERT	ORPHA:2495
HP:0030517	Heteronymous hemianopia	51684	SUFU	ORPHA:2495
HP:0030517	Heteronymous hemianopia	6605	SMARCE1	ORPHA:2495
HP:0030517	Heteronymous hemianopia	1499	CTNNB1	ORPHA:54595
HP:0030517	Heteronymous hemianopia	673	BRAF	ORPHA:54595
HP:0030516	Homonymous hemianopia	23600	AMACR	ORPHA:79095
HP:0030515	Moderately reduced visual acuity	4041	LRP5	ORPHA:2788
HP:0030515	Moderately reduced visual acuity	10059	DNM1L	ORPHA:98673
HP:0030515	Moderately reduced visual acuity	4976	OPA1	ORPHA:98673
HP:0030515	Moderately reduced visual acuity	57096	RPGRIP1	OMIM:608194
HP:0030515	Moderately reduced visual acuity	57096	RPGRIP1	OMIM:613826
HP:0030515	Moderately reduced visual acuity	5879	RAC1	ORPHA:500159
HP:0030515	Moderately reduced visual acuity	54714	CNGB3	OMIM:262300
HP:0030515	Moderately reduced visual acuity	50939	IMPG2	OMIM:616152
HP:0030515	Moderately reduced visual acuity	3617	IMPG1	OMIM:616151
HP:0030515	Moderately reduced visual acuity	5277	PIGA	OMIM:300868
HP:0030521	Bitemporal hemianopia	64072	CDH23	ORPHA:91347
HP:0030521	Bitemporal hemianopia	64072	CDH23	ORPHA:2965
HP:0030521	Bitemporal hemianopia	4221	MEN1	ORPHA:2965
HP:0030521	Bitemporal hemianopia	9049	AIP	ORPHA:2965
HP:0030521	Bitemporal hemianopia	8314	BAP1	ORPHA:2495
HP:0030521	Bitemporal hemianopia	4771	NF2	ORPHA:2495
HP:0030521	Bitemporal hemianopia	6598	SMARCB1	ORPHA:2495
HP:0030521	Bitemporal hemianopia	5155	PDGFB	ORPHA:2495
HP:0030521	Bitemporal hemianopia	84231	TRAF7	ORPHA:2495
HP:0030521	Bitemporal hemianopia	6608	SMO	ORPHA:2495
HP:0030521	Bitemporal hemianopia	207	AKT1	ORPHA:2495
HP:0030521	Bitemporal hemianopia	5290	PIK3CA	ORPHA:2495
HP:0030521	Bitemporal hemianopia	7015	TERT	ORPHA:2495
HP:0030521	Bitemporal hemianopia	51684	SUFU	ORPHA:2495
HP:0030521	Bitemporal hemianopia	6605	SMARCE1	ORPHA:2495
HP:0030521	Bitemporal hemianopia	1499	CTNNB1	ORPHA:54595
HP:0030521	Bitemporal hemianopia	673	BRAF	ORPHA:54595
HP:0030529	Ring scotoma	138050	HGSNAT	OMIM:616544
HP:0030529	Ring scotoma	6103	RPGR	OMIM:300029
HP:0030529	Ring scotoma	6017	RLBP1	OMIM:607476
HP:0030529	Ring scotoma	6017	RLBP1	ORPHA:85128
HP:0030529	Ring scotoma	51095	TRNT1	OMIM:616959
HP:0030529	Ring scotoma	6102	RP2	OMIM:312600
HP:0030529	Ring scotoma	28982	FLVCR1	OMIM:609033
HP:0030529	Ring scotoma	22901	ARSG	OMIM:618144
HP:0030528	Paracentral scotoma	2202	EFEMP1	ORPHA:75376
HP:0030528	Paracentral scotoma	3075	CFH	ORPHA:75376
HP:0030528	Paracentral scotoma	3426	CFI	ORPHA:75376
HP:0030528	Paracentral scotoma	285440	CYP4V2	ORPHA:41751
HP:0030528	Paracentral scotoma	285440	CYP4V2	OMIM:210370
HP:0030528	Paracentral scotoma	80201	HKDC1	OMIM:619614
HP:0030528	Paracentral scotoma	6017	RLBP1	ORPHA:85128
HP:0030528	Paracentral scotoma	50	ACO2	OMIM:616289
HP:0030534	Abnormal best corrected visual acuity test	10381	TUBB3	ORPHA:300570
HP:0030534	Abnormal best corrected visual acuity test	10381	TUBB3	ORPHA:45358
HP:0030534	Abnormal best corrected visual acuity test	55605	KIF21A	ORPHA:45358
HP:0030534	Abnormal best corrected visual acuity test	347733	TUBB2B	ORPHA:45358
HP:0030534	Abnormal best corrected visual acuity test	7846	TUBA1A	ORPHA:45358
HP:0030534	Abnormal best corrected visual acuity test	401	PHOX2A	ORPHA:45358
HP:0030534	Abnormal best corrected visual acuity test	84570	COL25A1	ORPHA:45358
HP:0030534	Abnormal best corrected visual acuity test	114902	C1QTNF5	ORPHA:67042
HP:0025270	Abnormal esophagus physiology	1497	CTNS	OMIM:219800
HP:0025270	Abnormal esophagus physiology	1145	CHRNE	OMIM:608931
HP:0025270	Abnormal esophagus physiology	1145	CHRNE	OMIM:605809
HP:0025270	Abnormal esophagus physiology	2673	GFPT1	OMIM:608931
HP:0025270	Abnormal esophagus physiology	1410	CRYAB	OMIM:608810
HP:0025270	Abnormal esophagus physiology	1410	CRYAB	ORPHA:399058
HP:0025270	Abnormal esophagus physiology	4287	ATXN3	OMIM:109150
HP:0025270	Abnormal esophagus physiology	4287	ATXN3	OMIM:168600
HP:0025270	Abnormal esophagus physiology	4287	ATXN3	ORPHA:276238
HP:0025270	Abnormal esophagus physiology	4287	ATXN3	ORPHA:276244
HP:0025270	Abnormal esophagus physiology	4287	ATXN3	ORPHA:276241
HP:0025270	Abnormal esophagus physiology	55703	POLR3B	OMIM:614381
HP:0025270	Abnormal esophagus physiology	55703	POLR3B	OMIM:607694
HP:0025270	Abnormal esophagus physiology	26235	FBXL4	OMIM:615471
HP:0025270	Abnormal esophagus physiology	8106	PABPN1	ORPHA:270
HP:0025270	Abnormal esophagus physiology	8106	PABPN1	OMIM:164300
HP:0025270	Abnormal esophagus physiology	1144	CHRND	OMIM:616321
HP:0025270	Abnormal esophagus physiology	1144	CHRND	OMIM:616323
HP:0025270	Abnormal esophagus physiology	4750	NEK1	OMIM:617892
HP:0025270	Abnormal esophagus physiology	4750	NEK1	ORPHA:803
HP:0025270	Abnormal esophagus physiology	23446	SLC44A1	OMIM:618868
HP:0025270	Abnormal esophagus physiology	4593	MUSK	OMIM:616325
HP:0025270	Abnormal esophagus physiology	10973	ASCC3	OMIM:620700
HP:0025270	Abnormal esophagus physiology	2720	GLB1	OMIM:230600
HP:0025270	Abnormal esophagus physiology	1134	CHRNA1	OMIM:608930
HP:0025270	Abnormal esophagus physiology	1134	CHRNA1	OMIM:601462
HP:0025270	Abnormal esophagus physiology	57679	ALS2	ORPHA:247604
HP:0025270	Abnormal esophagus physiology	57679	ALS2	OMIM:205100
HP:0025270	Abnormal esophagus physiology	57679	ALS2	ORPHA:300605
HP:0025270	Abnormal esophagus physiology	57679	ALS2	OMIM:607225
HP:0025270	Abnormal esophagus physiology	57679	ALS2	OMIM:606353
HP:0025270	Abnormal esophagus physiology	11160	ERLIN2	ORPHA:247604
HP:0025270	Abnormal esophagus physiology	11160	ERLIN2	ORPHA:280384
HP:0025270	Abnormal esophagus physiology	11160	ERLIN2	ORPHA:209951
HP:0025270	Abnormal esophagus physiology	9499	MYOT	ORPHA:266
HP:0025270	Abnormal esophagus physiology	5339	PLEC	ORPHA:254361
HP:0025270	Abnormal esophagus physiology	6687	SPG7	ORPHA:99013
HP:0025270	Abnormal esophagus physiology	6687	SPG7	OMIM:607259
HP:0025270	Abnormal esophagus physiology	6687	SPG7	ORPHA:35689
HP:0025270	Abnormal esophagus physiology	8291	DYSF	ORPHA:268
HP:0025270	Abnormal esophagus physiology	4535	MT-ND1	ORPHA:255210
HP:0025270	Abnormal esophagus physiology	4536	MT-ND2	ORPHA:255210
HP:0025270	Abnormal esophagus physiology	4537	MT-ND3	ORPHA:255210
HP:0025270	Abnormal esophagus physiology	4538	MT-ND4	ORPHA:255210
HP:0025270	Abnormal esophagus physiology	4567	MT-TL1	ORPHA:255210
HP:0025270	Abnormal esophagus physiology	4567	MT-TL1	ORPHA:480
HP:0025270	Abnormal esophagus physiology	4578	MT-TW	ORPHA:255210
HP:0025270	Abnormal esophagus physiology	4577	MT-TV	ORPHA:255210
HP:0025270	Abnormal esophagus physiology	4508	MT-ATP6	ORPHA:255210
HP:0025270	Abnormal esophagus physiology	4508	MT-ATP6	ORPHA:225154
HP:0025270	Abnormal esophagus physiology	4540	MT-ND5	ORPHA:255210
HP:0025270	Abnormal esophagus physiology	4541	MT-ND6	ORPHA:255210
HP:0025270	Abnormal esophagus physiology	4566	MT-TK	ORPHA:255210
HP:0025270	Abnormal esophagus physiology	4312	MMP1	ORPHA:79408
HP:0025270	Abnormal esophagus physiology	1294	COL7A1	ORPHA:79408
HP:0025270	Abnormal esophagus physiology	1294	COL7A1	OMIM:226600
HP:0025270	Abnormal esophagus physiology	1294	COL7A1	ORPHA:89842
HP:0025270	Abnormal esophagus physiology	3074	HEXB	ORPHA:309162
HP:0025270	Abnormal esophagus physiology	3074	HEXB	ORPHA:309169
HP:0025270	Abnormal esophagus physiology	79577	CDC73	ORPHA:143
HP:0025270	Abnormal esophagus physiology	79577	CDC73	ORPHA:99880
HP:0025270	Abnormal esophagus physiology	65993	MRPS34	OMIM:617664
HP:0025270	Abnormal esophagus physiology	6536	SLC6A9	OMIM:617301
HP:0025270	Abnormal esophagus physiology	1644	DDC	ORPHA:35708
HP:0025270	Abnormal esophagus physiology	10528	NOP56	OMIM:614153
HP:0025270	Abnormal esophagus physiology	10528	NOP56	ORPHA:276198
HP:0025270	Abnormal esophagus physiology	101060691	NUTM2B-AS1	OMIM:618637
HP:0025270	Abnormal esophagus physiology	1841	DTYMK	OMIM:619847
HP:0025270	Abnormal esophagus physiology	790	CAD	OMIM:616457
HP:0025270	Abnormal esophagus physiology	84466	MEGF10	OMIM:614399
HP:0025270	Abnormal esophagus physiology	84466	MEGF10	OMIM:620249
HP:0025270	Abnormal esophagus physiology	51112	TRAPPC12	OMIM:617669
HP:0025270	Abnormal esophagus physiology	51112	TRAPPC12	ORPHA:500144
HP:0025270	Abnormal esophagus physiology	55636	CHD7	ORPHA:138
HP:0025270	Abnormal esophagus physiology	55636	CHD7	OMIM:214800
HP:0025270	Abnormal esophagus physiology	9723	SEMA3E	ORPHA:138
HP:0025270	Abnormal esophagus physiology	3908	LAMA2	ORPHA:258
HP:0025270	Abnormal esophagus physiology	5189	PEX1	OMIM:214100
HP:0025270	Abnormal esophagus physiology	5428	POLG	ORPHA:298
HP:0025270	Abnormal esophagus physiology	5428	POLG	ORPHA:254892
HP:0025270	Abnormal esophagus physiology	5428	POLG	OMIM:258450
HP:0025270	Abnormal esophagus physiology	5428	POLG	ORPHA:254886
HP:0025270	Abnormal esophagus physiology	5428	POLG	OMIM:157640
HP:0025270	Abnormal esophagus physiology	5428	POLG	ORPHA:94125
HP:0025270	Abnormal esophagus physiology	5428	POLG	OMIM:607459
HP:0025270	Abnormal esophagus physiology	5428	POLG	OMIM:603041
HP:0025270	Abnormal esophagus physiology	1890	TYMP	ORPHA:298
HP:0025270	Abnormal esophagus physiology	1890	TYMP	OMIM:603041
HP:0025270	Abnormal esophagus physiology	3980	LIG3	ORPHA:298
HP:0025270	Abnormal esophagus physiology	3980	LIG3	OMIM:619780
HP:0025270	Abnormal esophagus physiology	50484	RRM2B	ORPHA:298
HP:0025270	Abnormal esophagus physiology	50484	RRM2B	OMIM:613077
HP:0025270	Abnormal esophagus physiology	50484	RRM2B	ORPHA:480
HP:0025270	Abnormal esophagus physiology	50484	RRM2B	ORPHA:254892
HP:0025270	Abnormal esophagus physiology	50484	RRM2B	ORPHA:329336
HP:0025270	Abnormal esophagus physiology	8575	PRKRA	ORPHA:210571
HP:0025270	Abnormal esophagus physiology	8575	PRKRA	OMIM:612067
HP:0025270	Abnormal esophagus physiology	79147	FKRP	OMIM:606612
HP:0025270	Abnormal esophagus physiology	348	APOE	OMIM:607822
HP:0025270	Abnormal esophagus physiology	5663	PSEN1	OMIM:607822
HP:0025270	Abnormal esophagus physiology	215	ABCD1	ORPHA:139396
HP:0025270	Abnormal esophagus physiology	25885	POLR1A	OMIM:616462
HP:0025270	Abnormal esophagus physiology	7343	UBTF	OMIM:617672
HP:0025270	Abnormal esophagus physiology	7343	UBTF	ORPHA:500180
HP:0025270	Abnormal esophagus physiology	10352	WARS2	OMIM:619738
HP:0025270	Abnormal esophagus physiology	10352	WARS2	ORPHA:572798
HP:0025270	Abnormal esophagus physiology	3064	HTT	OMIM:617435
HP:0025270	Abnormal esophagus physiology	10939	AFG3L2	ORPHA:313772
HP:0025270	Abnormal esophagus physiology	10939	AFG3L2	OMIM:614487
HP:0025270	Abnormal esophagus physiology	83480	PUS3	ORPHA:488627
HP:0025270	Abnormal esophagus physiology	5621	PRNP	OMIM:600072
HP:0025270	Abnormal esophagus physiology	5621	PRNP	ORPHA:466
HP:0025270	Abnormal esophagus physiology	10049	DNAJB6	ORPHA:34516
HP:0025270	Abnormal esophagus physiology	10049	DNAJB6	OMIM:603511
HP:0025270	Abnormal esophagus physiology	4620	MYH2	OMIM:605637
HP:0025270	Abnormal esophagus physiology	857	CAV1	OMIM:606721
HP:0025270	Abnormal esophagus physiology	857	CAV1	ORPHA:220402
HP:0025270	Abnormal esophagus physiology	857	CAV1	ORPHA:220393
HP:0025270	Abnormal esophagus physiology	10935	PRDX3	OMIM:619862
HP:0025270	Abnormal esophagus physiology	4297	KMT2A	ORPHA:319182
HP:0025270	Abnormal esophagus physiology	246243	RNASEH1	OMIM:616479
HP:0025270	Abnormal esophagus physiology	246243	RNASEH1	ORPHA:329336
HP:0025270	Abnormal esophagus physiology	80208	SPG11	ORPHA:2822
HP:0025270	Abnormal esophagus physiology	80208	SPG11	ORPHA:300605
HP:0025270	Abnormal esophagus physiology	80208	SPG11	OMIM:604360
HP:0025270	Abnormal esophagus physiology	28514	DLL1	ORPHA:93926
HP:0025270	Abnormal esophagus physiology	28514	DLL1	ORPHA:93924
HP:0025270	Abnormal esophagus physiology	28514	DLL1	ORPHA:93925
HP:0025270	Abnormal esophagus physiology	28514	DLL1	ORPHA:280195
HP:0025270	Abnormal esophagus physiology	28514	DLL1	ORPHA:220386
HP:0025270	Abnormal esophagus physiology	2253	FGF8	ORPHA:93926
HP:0025270	Abnormal esophagus physiology	2253	FGF8	ORPHA:93924
HP:0025270	Abnormal esophagus physiology	2253	FGF8	ORPHA:93925
HP:0025270	Abnormal esophagus physiology	2253	FGF8	ORPHA:280195
HP:0025270	Abnormal esophagus physiology	2253	FGF8	ORPHA:220386
HP:0025270	Abnormal esophagus physiology	6496	SIX3	ORPHA:93926
HP:0025270	Abnormal esophagus physiology	6496	SIX3	ORPHA:93924
HP:0025270	Abnormal esophagus physiology	6496	SIX3	ORPHA:93925
HP:0025270	Abnormal esophagus physiology	6496	SIX3	ORPHA:280195
HP:0025270	Abnormal esophagus physiology	6496	SIX3	ORPHA:220386
HP:0025270	Abnormal esophagus physiology	7050	TGIF1	ORPHA:93926
HP:0025270	Abnormal esophagus physiology	7050	TGIF1	ORPHA:93924
HP:0025270	Abnormal esophagus physiology	7050	TGIF1	ORPHA:93925
HP:0025270	Abnormal esophagus physiology	7050	TGIF1	ORPHA:280195
HP:0025270	Abnormal esophagus physiology	7050	TGIF1	ORPHA:220386
HP:0025270	Abnormal esophagus physiology	4838	NODAL	ORPHA:93926
HP:0025270	Abnormal esophagus physiology	4838	NODAL	ORPHA:93924
HP:0025270	Abnormal esophagus physiology	4838	NODAL	ORPHA:93925
HP:0025270	Abnormal esophagus physiology	4838	NODAL	ORPHA:280195
HP:0025270	Abnormal esophagus physiology	4838	NODAL	ORPHA:220386
HP:0025270	Abnormal esophagus physiology	6469	SHH	ORPHA:93926
HP:0025270	Abnormal esophagus physiology	6469	SHH	ORPHA:93924
HP:0025270	Abnormal esophagus physiology	6469	SHH	ORPHA:93925
HP:0025270	Abnormal esophagus physiology	6469	SHH	ORPHA:280195
HP:0025270	Abnormal esophagus physiology	6469	SHH	ORPHA:220386
HP:0025270	Abnormal esophagus physiology	7546	ZIC2	ORPHA:93926
HP:0025270	Abnormal esophagus physiology	7546	ZIC2	ORPHA:93924
HP:0025270	Abnormal esophagus physiology	7546	ZIC2	ORPHA:93925
HP:0025270	Abnormal esophagus physiology	7546	ZIC2	ORPHA:280195
HP:0025270	Abnormal esophagus physiology	7546	ZIC2	ORPHA:220386
HP:0025270	Abnormal esophagus physiology	6491	STIL	ORPHA:93926
HP:0025270	Abnormal esophagus physiology	6491	STIL	ORPHA:93924
HP:0025270	Abnormal esophagus physiology	6491	STIL	ORPHA:93925
HP:0025270	Abnormal esophagus physiology	6491	STIL	ORPHA:280195
HP:0025270	Abnormal esophagus physiology	6491	STIL	ORPHA:220386
HP:0025270	Abnormal esophagus physiology	2619	GAS1	ORPHA:93926
HP:0025270	Abnormal esophagus physiology	2619	GAS1	ORPHA:93924
HP:0025270	Abnormal esophagus physiology	2619	GAS1	ORPHA:93925
HP:0025270	Abnormal esophagus physiology	2619	GAS1	ORPHA:280195
HP:0025270	Abnormal esophagus physiology	2619	GAS1	ORPHA:220386
HP:0025270	Abnormal esophagus physiology	84976	DISP1	ORPHA:93926
HP:0025270	Abnormal esophagus physiology	84976	DISP1	ORPHA:93924
HP:0025270	Abnormal esophagus physiology	84976	DISP1	ORPHA:93925
HP:0025270	Abnormal esophagus physiology	84976	DISP1	ORPHA:280195
HP:0025270	Abnormal esophagus physiology	84976	DISP1	ORPHA:220386
HP:0025270	Abnormal esophagus physiology	2736	GLI2	ORPHA:93926
HP:0025270	Abnormal esophagus physiology	2736	GLI2	ORPHA:93924
HP:0025270	Abnormal esophagus physiology	2736	GLI2	ORPHA:93925
HP:0025270	Abnormal esophagus physiology	2736	GLI2	ORPHA:280195
HP:0025270	Abnormal esophagus physiology	2736	GLI2	ORPHA:220386
HP:0025270	Abnormal esophagus physiology	8928	FOXH1	ORPHA:93926
HP:0025270	Abnormal esophagus physiology	8928	FOXH1	ORPHA:93924
HP:0025270	Abnormal esophagus physiology	8928	FOXH1	ORPHA:93925
HP:0025270	Abnormal esophagus physiology	8928	FOXH1	ORPHA:280195
HP:0025270	Abnormal esophagus physiology	8928	FOXH1	ORPHA:220386
HP:0025270	Abnormal esophagus physiology	6997	CRIPTO	ORPHA:93926
HP:0025270	Abnormal esophagus physiology	6997	CRIPTO	ORPHA:93924
HP:0025270	Abnormal esophagus physiology	6997	CRIPTO	ORPHA:93925
HP:0025270	Abnormal esophagus physiology	6997	CRIPTO	ORPHA:280195
HP:0025270	Abnormal esophagus physiology	6997	CRIPTO	ORPHA:220386
HP:0025270	Abnormal esophagus physiology	5727	PTCH1	ORPHA:93926
HP:0025270	Abnormal esophagus physiology	5727	PTCH1	ORPHA:93924
HP:0025270	Abnormal esophagus physiology	5727	PTCH1	ORPHA:93925
HP:0025270	Abnormal esophagus physiology	5727	PTCH1	ORPHA:280195
HP:0025270	Abnormal esophagus physiology	5727	PTCH1	ORPHA:220386
HP:0025270	Abnormal esophagus physiology	50937	CDON	ORPHA:93926
HP:0025270	Abnormal esophagus physiology	50937	CDON	ORPHA:93924
HP:0025270	Abnormal esophagus physiology	50937	CDON	ORPHA:93925
HP:0025270	Abnormal esophagus physiology	50937	CDON	ORPHA:280195
HP:0025270	Abnormal esophagus physiology	50937	CDON	ORPHA:220386
HP:0025270	Abnormal esophagus physiology	2783	GNB2	OMIM:619503
HP:0025270	Abnormal esophagus physiology	2260	FGFR1	ORPHA:93924
HP:0025270	Abnormal esophagus physiology	2260	FGFR1	ORPHA:220386
HP:0025270	Abnormal esophagus physiology	23007	PLCH1	ORPHA:93925
HP:0025270	Abnormal esophagus physiology	10735	STAG2	ORPHA:93925
HP:0025270	Abnormal esophagus physiology	10735	STAG2	ORPHA:220386
HP:0025270	Abnormal esophagus physiology	950	SCARB2	OMIM:254900
HP:0025270	Abnormal esophagus physiology	26834	RNU4-2	OMIM:620851
HP:0025270	Abnormal esophagus physiology	9897	WASHC5	OMIM:603563
HP:0025270	Abnormal esophagus physiology	8398	PLA2G6	ORPHA:199351
HP:0025270	Abnormal esophagus physiology	8398	PLA2G6	OMIM:610217
HP:0025270	Abnormal esophagus physiology	8622	PDE8B	ORPHA:228169
HP:0025270	Abnormal esophagus physiology	253738	EBF3	OMIM:617330
HP:0025270	Abnormal esophagus physiology	3572	IL6ST	OMIM:619751
HP:0025270	Abnormal esophagus physiology	2911	GRM1	OMIM:617691
HP:0025270	Abnormal esophagus physiology	55773	TBC1D23	OMIM:617695
HP:0025270	Abnormal esophagus physiology	23259	DDHD2	OMIM:615033
HP:0025270	Abnormal esophagus physiology	23259	DDHD2	ORPHA:320380
HP:0025270	Abnormal esophagus physiology	54902	TTC19	OMIM:615157
HP:0025270	Abnormal esophagus physiology	391356	PTRHD1	OMIM:620747
HP:0025270	Abnormal esophagus physiology	2643	GCH1	OMIM:233910
HP:0025270	Abnormal esophagus physiology	55823	VPS11	OMIM:619637
HP:0025270	Abnormal esophagus physiology	5590	PRKCZ	ORPHA:1606
HP:0025270	Abnormal esophagus physiology	2563	GABRD	ORPHA:1606
HP:0025270	Abnormal esophagus physiology	23013	SPEN	ORPHA:1606
HP:0025270	Abnormal esophagus physiology	23013	SPEN	OMIM:619312
HP:0025270	Abnormal esophagus physiology	8510	MMP23B	ORPHA:1606
HP:0025270	Abnormal esophagus physiology	7798	LUZP1	ORPHA:1606
HP:0025270	Abnormal esophagus physiology	6497	SKI	ORPHA:1606
HP:0025270	Abnormal esophagus physiology	10630	PDPN	ORPHA:1606
HP:0025270	Abnormal esophagus physiology	3339	HSPG2	ORPHA:1606
HP:0025270	Abnormal esophagus physiology	10277	UBE4B	ORPHA:1606
HP:0025270	Abnormal esophagus physiology	8514	KCNAB2	ORPHA:1606
HP:0025270	Abnormal esophagus physiology	473	RERE	ORPHA:1606
HP:0025270	Abnormal esophagus physiology	473	RERE	ORPHA:494344
HP:0025270	Abnormal esophagus physiology	63976	PRDM16	ORPHA:1606
HP:0025270	Abnormal esophagus physiology	54897	CASZ1	ORPHA:1606
HP:0025270	Abnormal esophagus physiology	8659	ALDH4A1	ORPHA:79101
HP:0025270	Abnormal esophagus physiology	1180	CLCN1	OMIM:255700
HP:0025270	Abnormal esophagus physiology	1180	CLCN1	ORPHA:614
HP:0025270	Abnormal esophagus physiology	58	ACTA1	OMIM:161800
HP:0025270	Abnormal esophagus physiology	58	ACTA1	OMIM:620265
HP:0025270	Abnormal esophagus physiology	58	ACTA1	ORPHA:171433
HP:0025270	Abnormal esophagus physiology	58	ACTA1	ORPHA:171430
HP:0025270	Abnormal esophagus physiology	58	ACTA1	OMIM:620278
HP:0025270	Abnormal esophagus physiology	58	ACTA1	ORPHA:2020
HP:0025270	Abnormal esophagus physiology	5860	QDPR	ORPHA:226
HP:0025270	Abnormal esophagus physiology	5860	QDPR	OMIM:261630
HP:0025270	Abnormal esophagus physiology	93986	FOXP2	ORPHA:251061
HP:0025270	Abnormal esophagus physiology	7750	ZMYM2	OMIM:619522
HP:0025270	Abnormal esophagus physiology	56947	MFF	ORPHA:485421
HP:0025270	Abnormal esophagus physiology	56947	MFF	OMIM:617086
HP:0025270	Abnormal esophagus physiology	4076	CAPRIN1	OMIM:620636
HP:0025270	Abnormal esophagus physiology	10342	TFG	ORPHA:90117
HP:0025270	Abnormal esophagus physiology	57462	MYORG	OMIM:618317
HP:0025270	Abnormal esophagus physiology	9562	MINPP1	OMIM:619527
HP:0025270	Abnormal esophagus physiology	540	ATP7B	OMIM:277900
HP:0025270	Abnormal esophagus physiology	56652	TWNK	OMIM:271245
HP:0025270	Abnormal esophagus physiology	56652	TWNK	ORPHA:254892
HP:0025270	Abnormal esophagus physiology	56652	TWNK	OMIM:609286
HP:0025270	Abnormal esophagus physiology	56652	TWNK	OMIM:607459
HP:0025270	Abnormal esophagus physiology	23314	SATB2	ORPHA:576283
HP:0025270	Abnormal esophagus physiology	4626	MYH8	OMIM:158300
HP:0025270	Abnormal esophagus physiology	4854	NOTCH3	ORPHA:136
HP:0025270	Abnormal esophagus physiology	57724	EPG5	OMIM:242840
HP:0025270	Abnormal esophagus physiology	1436	CSF1R	OMIM:221820
HP:0025270	Abnormal esophagus physiology	5354	PLP1	OMIM:312080
HP:0025270	Abnormal esophagus physiology	55612	FERMT1	ORPHA:2908
HP:0025270	Abnormal esophagus physiology	55612	FERMT1	OMIM:173650
HP:0025270	Abnormal esophagus physiology	6843	VAMP1	OMIM:618323
HP:0025270	Abnormal esophagus physiology	6843	VAMP1	ORPHA:251282
HP:0025270	Abnormal esophagus physiology	6843	VAMP1	OMIM:108600
HP:0025270	Abnormal esophagus physiology	6843	VAMP1	ORPHA:98914
HP:0025270	Abnormal esophagus physiology	4123	MAN2C1	OMIM:619775
HP:0025270	Abnormal esophagus physiology	3798	KIF5A	OMIM:617235
HP:0025270	Abnormal esophagus physiology	339855	KY	OMIM:617114
HP:0025270	Abnormal esophagus physiology	339855	KY	ORPHA:496689
HP:0025270	Abnormal esophagus physiology	79977	GRHL2	OMIM:616029
HP:0025270	Abnormal esophagus physiology	6240	RRM1	OMIM:620647
HP:0025270	Abnormal esophagus physiology	7994	KAT6A	OMIM:616268
HP:0025270	Abnormal esophagus physiology	23499	MACF1	OMIM:618325
HP:0025270	Abnormal esophagus physiology	23499	MACF1	ORPHA:572013
HP:0025270	Abnormal esophagus physiology	23219	FBXO28	OMIM:619777
HP:0025270	Abnormal esophagus physiology	2055	CLN8	ORPHA:1947
HP:0025270	Abnormal esophagus physiology	51322	WAC	ORPHA:466950
HP:0025270	Abnormal esophagus physiology	5837	PYGM	ORPHA:368
HP:0025270	Abnormal esophagus physiology	2512	FTL	ORPHA:157846
HP:0025270	Abnormal esophagus physiology	2512	FTL	OMIM:606159
HP:0025270	Abnormal esophagus physiology	2629	GBA1	ORPHA:77260
HP:0025270	Abnormal esophagus physiology	2629	GBA1	OMIM:230900
HP:0025270	Abnormal esophagus physiology	2629	GBA1	OMIM:168600
HP:0025270	Abnormal esophagus physiology	2629	GBA1	OMIM:608013
HP:0025270	Abnormal esophagus physiology	2629	GBA1	ORPHA:411602
HP:0025270	Abnormal esophagus physiology	10533	ATG7	OMIM:619422
HP:0025270	Abnormal esophagus physiology	4509	MT-ATP8	ORPHA:480
HP:0025270	Abnormal esophagus physiology	51117	COQ4	OMIM:616276
HP:0025270	Abnormal esophagus physiology	120	ADD3	OMIM:617008
HP:0025270	Abnormal esophagus physiology	171546	SPTSSA	OMIM:620416
HP:0025270	Abnormal esophagus physiology	171546	SPTSSA	OMIM:620417
HP:0025270	Abnormal esophagus physiology	27429	HTRA2	OMIM:617248
HP:0025270	Abnormal esophagus physiology	5081	PAX7	OMIM:618578
HP:0025270	Abnormal esophagus physiology	1674	DES	OMIM:181400
HP:0025270	Abnormal esophagus physiology	6792	CDKL5	ORPHA:1934
HP:0025270	Abnormal esophagus physiology	3736	KCNA1	ORPHA:1934
HP:0025270	Abnormal esophagus physiology	9091	PIGQ	ORPHA:1934
HP:0025270	Abnormal esophagus physiology	140679	SLC32A1	ORPHA:1934
HP:0025270	Abnormal esophagus physiology	2775	GNAO1	ORPHA:1934
HP:0025270	Abnormal esophagus physiology	2775	GNAO1	OMIM:617493
HP:0025270	Abnormal esophagus physiology	81603	TRIM8	ORPHA:1934
HP:0025270	Abnormal esophagus physiology	2902	GRIN1	ORPHA:1934
HP:0025270	Abnormal esophagus physiology	79751	SLC25A22	ORPHA:1934
HP:0025270	Abnormal esophagus physiology	150094	SIK1	ORPHA:1934
HP:0025270	Abnormal esophagus physiology	8573	CASK	ORPHA:1934
HP:0025270	Abnormal esophagus physiology	23312	DMXL2	ORPHA:1934
HP:0025270	Abnormal esophagus physiology	2917	GRM7	ORPHA:1934
HP:0025270	Abnormal esophagus physiology	2917	GRM7	OMIM:618922
HP:0025270	Abnormal esophagus physiology	170302	ARX	ORPHA:1934
HP:0025270	Abnormal esophagus physiology	170302	ARX	OMIM:308350
HP:0025270	Abnormal esophagus physiology	11284	PNKP	ORPHA:1934
HP:0025270	Abnormal esophagus physiology	6326	SCN2A	ORPHA:1934
HP:0025270	Abnormal esophagus physiology	51227	PIGP	ORPHA:1934
HP:0025270	Abnormal esophagus physiology	6324	SCN1B	ORPHA:1934
HP:0025270	Abnormal esophagus physiology	4761	NEUROD2	ORPHA:1934
HP:0025270	Abnormal esophagus physiology	4761	NEUROD2	OMIM:618374
HP:0025270	Abnormal esophagus physiology	4001	LMNB1	ORPHA:99027
HP:0025270	Abnormal esophagus physiology	389827	MYMK	OMIM:254940
HP:0025270	Abnormal esophagus physiology	2639	GCDH	ORPHA:25
HP:0025270	Abnormal esophagus physiology	291	SLC25A4	ORPHA:254892
HP:0025270	Abnormal esophagus physiology	11232	POLG2	ORPHA:254892
HP:0025270	Abnormal esophagus physiology	9361	LONP1	OMIM:600373
HP:0025270	Abnormal esophagus physiology	4487	MSX1	ORPHA:141291
HP:0025270	Abnormal esophagus physiology	5818	NECTIN1	ORPHA:141291
HP:0025270	Abnormal esophagus physiology	8626	TP63	ORPHA:141291
HP:0025270	Abnormal esophagus physiology	3664	IRF6	ORPHA:141291
HP:0025270	Abnormal esophagus physiology	353116	RILPL1	OMIM:619790
HP:0025270	Abnormal esophagus physiology	23111	SPART	OMIM:275900
HP:0025270	Abnormal esophagus physiology	23111	SPART	ORPHA:101000
HP:0025270	Abnormal esophagus physiology	4137	MAPT	OMIM:601104
HP:0025270	Abnormal esophagus physiology	4137	MAPT	ORPHA:240112
HP:0025270	Abnormal esophagus physiology	4137	MAPT	ORPHA:240103
HP:0025270	Abnormal esophagus physiology	4137	MAPT	OMIM:168600
HP:0025270	Abnormal esophagus physiology	1499	CTNNB1	OMIM:615075
HP:0025270	Abnormal esophagus physiology	56896	DPYSL5	OMIM:619435
HP:0025270	Abnormal esophagus physiology	54892	NCAPG2	OMIM:618460
HP:0025270	Abnormal esophagus physiology	1859	DYRK1A	ORPHA:268261
HP:0025270	Abnormal esophagus physiology	2495	FTH1	OMIM:620669
HP:0025270	Abnormal esophagus physiology	53371	NUP54	OMIM:620427
HP:0025270	Abnormal esophagus physiology	53371	NUP54	ORPHA:225154
HP:0025270	Abnormal esophagus physiology	79912	PYROXD1	OMIM:617258
HP:0025270	Abnormal esophagus physiology	4719	NDUFS1	OMIM:618226
HP:0025270	Abnormal esophagus physiology	79903	NAA60	OMIM:620786
HP:0025270	Abnormal esophagus physiology	11267	SNF8	OMIM:620784
HP:0025270	Abnormal esophagus physiology	11267	SNF8	OMIM:620783
HP:0025270	Abnormal esophagus physiology	4703	NEB	OMIM:256030
HP:0025270	Abnormal esophagus physiology	4703	NEB	ORPHA:171433
HP:0025270	Abnormal esophagus physiology	4703	NEB	ORPHA:171430
HP:0025270	Abnormal esophagus physiology	1235	CCR6	ORPHA:220402
HP:0025270	Abnormal esophagus physiology	1235	CCR6	ORPHA:220393
HP:0025270	Abnormal esophagus physiology	79932	KIAA0319L	ORPHA:220402
HP:0025270	Abnormal esophagus physiology	1490	CCN2	ORPHA:220402
HP:0025270	Abnormal esophagus physiology	1490	CCN2	ORPHA:220393
HP:0025270	Abnormal esophagus physiology	3663	IRF5	ORPHA:220402
HP:0025270	Abnormal esophagus physiology	3663	IRF5	ORPHA:220393
HP:0025270	Abnormal esophagus physiology	3123	HLA-DRB1	ORPHA:220402
HP:0025270	Abnormal esophagus physiology	3123	HLA-DRB1	ORPHA:220393
HP:0025270	Abnormal esophagus physiology	91942	NDUFAF2	OMIM:618233
HP:0025270	Abnormal esophagus physiology	60482	SLC5A7	OMIM:617143
HP:0025270	Abnormal esophagus physiology	60482	SLC5A7	ORPHA:98914
HP:0025270	Abnormal esophagus physiology	7084	TK2	ORPHA:254886
HP:0025270	Abnormal esophagus physiology	7084	TK2	ORPHA:254875
HP:0025270	Abnormal esophagus physiology	7084	TK2	OMIM:617069
HP:0025270	Abnormal esophagus physiology	81790	RNF170	OMIM:619686
HP:0025270	Abnormal esophagus physiology	84909	AOPEP	OMIM:619565
HP:0025270	Abnormal esophagus physiology	478	ATP1A3	OMIM:601338
HP:0025270	Abnormal esophagus physiology	478	ATP1A3	OMIM:128235
HP:0025270	Abnormal esophagus physiology	478	ATP1A3	ORPHA:1171
HP:0025270	Abnormal esophagus physiology	478	ATP1A3	ORPHA:2131
HP:0025270	Abnormal esophagus physiology	478	ATP1A3	ORPHA:71517
HP:0025270	Abnormal esophagus physiology	283989	TSEN54	OMIM:225753
HP:0025270	Abnormal esophagus physiology	283989	TSEN54	OMIM:277470
HP:0025270	Abnormal esophagus physiology	25814	ATXN10	OMIM:603516
HP:0025270	Abnormal esophagus physiology	5649	RELN	ORPHA:89844
HP:0025270	Abnormal esophagus physiology	10300	KATNB1	ORPHA:89844
HP:0025270	Abnormal esophagus physiology	54820	NDE1	ORPHA:89844
HP:0025270	Abnormal esophagus physiology	4722	NDUFS3	OMIM:618230
HP:0025270	Abnormal esophagus physiology	3930	LBR	ORPHA:779
HP:0025270	Abnormal esophagus physiology	710	SERPING1	ORPHA:100050
HP:0025270	Abnormal esophagus physiology	1760	DMPK	OMIM:160900
HP:0025270	Abnormal esophagus physiology	1760	DMPK	ORPHA:589821
HP:0025270	Abnormal esophagus physiology	387119	CEP85L	ORPHA:572013
HP:0025270	Abnormal esophagus physiology	6904	TBCD	ORPHA:496641
HP:0025270	Abnormal esophagus physiology	427	ASAH1	OMIM:159950
HP:0025270	Abnormal esophagus physiology	427	ASAH1	ORPHA:2590
HP:0025270	Abnormal esophagus physiology	10059	DNM1L	ORPHA:98673
HP:0025270	Abnormal esophagus physiology	4976	OPA1	ORPHA:98673
HP:0025270	Abnormal esophagus physiology	4976	OPA1	OMIM:210000
HP:0025270	Abnormal esophagus physiology	7337	UBE3A	ORPHA:98794
HP:0025270	Abnormal esophagus physiology	7337	UBE3A	ORPHA:98795
HP:0025270	Abnormal esophagus physiology	7337	UBE3A	ORPHA:411511
HP:0025270	Abnormal esophagus physiology	4948	OCA2	ORPHA:98794
HP:0025270	Abnormal esophagus physiology	5980	REV3L	ORPHA:570
HP:0025270	Abnormal esophagus physiology	23129	PLXND1	ORPHA:570
HP:0025270	Abnormal esophagus physiology	65055	REEP1	ORPHA:101011
HP:0025270	Abnormal esophagus physiology	65055	REEP1	OMIM:610250
HP:0025270	Abnormal esophagus physiology	351	APP	ORPHA:324708
HP:0025270	Abnormal esophagus physiology	56915	EXOSC5	OMIM:619576
HP:0025270	Abnormal esophagus physiology	51132	RLIM	OMIM:300978
HP:0025270	Abnormal esophagus physiology	10588	MTHFS	OMIM:618367
HP:0025270	Abnormal esophagus physiology	4704	NDUFA9	OMIM:618247
HP:0025270	Abnormal esophagus physiology	29978	UBQLN2	OMIM:300857
HP:0025270	Abnormal esophagus physiology	29978	UBQLN2	ORPHA:803
HP:0025270	Abnormal esophagus physiology	8260	NAA10	OMIM:300855
HP:0025270	Abnormal esophagus physiology	182	JAG1	OMIM:619574
HP:0025270	Abnormal esophagus physiology	7170	TPM3	OMIM:609284
HP:0025270	Abnormal esophagus physiology	7170	TPM3	ORPHA:171433
HP:0025270	Abnormal esophagus physiology	7170	TPM3	ORPHA:2020
HP:0025270	Abnormal esophagus physiology	7170	TPM3	OMIM:255310
HP:0025270	Abnormal esophagus physiology	7169	TPM2	OMIM:609285
HP:0025270	Abnormal esophagus physiology	7169	TPM2	ORPHA:2020
HP:0025270	Abnormal esophagus physiology	54834	GDAP2	OMIM:618369
HP:0025270	Abnormal esophagus physiology	51704	GPRC5B	OMIM:620447
HP:0025270	Abnormal esophagus physiology	361	AQP4	OMIM:620448
HP:0025270	Abnormal esophagus physiology	4864	NPC1	OMIM:257220
HP:0025270	Abnormal esophagus physiology	5277	PIGA	ORPHA:447
HP:0025270	Abnormal esophagus physiology	2131	EXT1	ORPHA:321
HP:0025270	Abnormal esophagus physiology	2132	EXT2	ORPHA:321
HP:0025270	Abnormal esophagus physiology	6329	SCN4A	ORPHA:684
HP:0025270	Abnormal esophagus physiology	6329	SCN4A	ORPHA:99735
HP:0025270	Abnormal esophagus physiology	6329	SCN4A	ORPHA:99736
HP:0025270	Abnormal esophagus physiology	5805	PTS	ORPHA:13
HP:0025270	Abnormal esophagus physiology	5805	PTS	OMIM:261640
HP:0025270	Abnormal esophagus physiology	22827	PUF60	ORPHA:508488
HP:0025270	Abnormal esophagus physiology	51102	MECR	OMIM:617282
HP:0025270	Abnormal esophagus physiology	51102	MECR	ORPHA:508093
HP:0025270	Abnormal esophagus physiology	51324	SPG21	ORPHA:101001
HP:0025270	Abnormal esophagus physiology	51324	SPG21	OMIM:248900
HP:0025270	Abnormal esophagus physiology	5631	PRPS1	OMIM:301835
HP:0025270	Abnormal esophagus physiology	3977	LIFR	OMIM:601559
HP:0025270	Abnormal esophagus physiology	2906	GRIN2D	OMIM:617162
HP:0025270	Abnormal esophagus physiology	127833	SYT2	OMIM:619461
HP:0025270	Abnormal esophagus physiology	127833	SYT2	ORPHA:98914
HP:0025270	Abnormal esophagus physiology	146206	CARMIL2	OMIM:618131
HP:0025270	Abnormal esophagus physiology	1822	ATN1	OMIM:618494
HP:0025270	Abnormal esophagus physiology	2705	GJB1	OMIM:302800
HP:0025270	Abnormal esophagus physiology	4700	NDUFA6	OMIM:618253
HP:0025270	Abnormal esophagus physiology	51305	KCNK9	ORPHA:166108
HP:0025270	Abnormal esophagus physiology	51305	KCNK9	OMIM:612292
HP:0025270	Abnormal esophagus physiology	1200	TPP1	OMIM:609270
HP:0025270	Abnormal esophagus physiology	6304	SATB1	OMIM:619229
HP:0025270	Abnormal esophagus physiology	1974	EIF4A2	OMIM:620455
HP:0025270	Abnormal esophagus physiology	220296	HEPACAM	OMIM:613925
HP:0025270	Abnormal esophagus physiology	29967	LRP12	OMIM:620452
HP:0025270	Abnormal esophagus physiology	29967	LRP12	OMIM:164310
HP:0025270	Abnormal esophagus physiology	26040	SETBP1	ORPHA:798
HP:0025270	Abnormal esophagus physiology	3028	HSD17B10	ORPHA:391428
HP:0025270	Abnormal esophagus physiology	4629	MYH11	OMIM:619350
HP:0025270	Abnormal esophagus physiology	9757	KMT2B	ORPHA:589618
HP:0025270	Abnormal esophagus physiology	6390	SDHB	ORPHA:97286
HP:0025270	Abnormal esophagus physiology	6390	SDHB	ORPHA:44890
HP:0025270	Abnormal esophagus physiology	6390	SDHB	OMIM:606764
HP:0025270	Abnormal esophagus physiology	6391	SDHC	ORPHA:97286
HP:0025270	Abnormal esophagus physiology	6391	SDHC	ORPHA:44890
HP:0025270	Abnormal esophagus physiology	6391	SDHC	OMIM:606764
HP:0025270	Abnormal esophagus physiology	6392	SDHD	ORPHA:97286
HP:0025270	Abnormal esophagus physiology	55975	KLHL7	OMIM:617055
HP:0025270	Abnormal esophagus physiology	55697	VAC14	OMIM:617054
HP:0025270	Abnormal esophagus physiology	10526	IPO8	OMIM:619472
HP:0025270	Abnormal esophagus physiology	100996717	NOTCH2NLC	OMIM:619473
HP:0025270	Abnormal esophagus physiology	2318	FLNC	ORPHA:63273
HP:0025270	Abnormal esophagus physiology	7345	UCHL1	OMIM:620221
HP:0025270	Abnormal esophagus physiology	3181	HNRNPA2B1	OMIM:620460
HP:0025270	Abnormal esophagus physiology	283446	MYO1H	OMIM:619482
HP:0025270	Abnormal esophagus physiology	7204	TRIO	OMIM:617061
HP:0025270	Abnormal esophagus physiology	8567	MADD	OMIM:619004
HP:0025270	Abnormal esophagus physiology	29123	ANKRD11	ORPHA:261250
HP:0025270	Abnormal esophagus physiology	23230	VPS13A	OMIM:200150
HP:0025270	Abnormal esophagus physiology	23230	VPS13A	ORPHA:2388
HP:0025270	Abnormal esophagus physiology	498	ATP5F1A	OMIM:620358
HP:0025270	Abnormal esophagus physiology	2799	GNS	OMIM:252940
HP:0025270	Abnormal esophagus physiology	673	BRAF	OMIM:613706
HP:0025270	Abnormal esophagus physiology	1893	ECM1	ORPHA:530
HP:0025270	Abnormal esophagus physiology	1716	DGUOK	OMIM:617070
HP:0025270	Abnormal esophagus physiology	1716	DGUOK	ORPHA:329314
HP:0025270	Abnormal esophagus physiology	23636	NUP62	ORPHA:225154
HP:0025270	Abnormal esophagus physiology	23636	NUP62	OMIM:271930
HP:0025270	Abnormal esophagus physiology	103	ADAR	ORPHA:225154
HP:0025270	Abnormal esophagus physiology	72	ACTG2	OMIM:155310
HP:0025270	Abnormal esophagus physiology	10479	SLC9A6	ORPHA:85278
HP:0025270	Abnormal esophagus physiology	10479	SLC9A6	OMIM:300243
HP:0025270	Abnormal esophagus physiology	6389	SDHA	ORPHA:44890
HP:0025270	Abnormal esophagus physiology	5156	PDGFRA	ORPHA:44890
HP:0025270	Abnormal esophagus physiology	3815	KIT	ORPHA:44890
HP:0025270	Abnormal esophagus physiology	3815	KIT	OMIM:606764
HP:0025270	Abnormal esophagus physiology	1984	EIF5A	OMIM:619376
HP:0025270	Abnormal esophagus physiology	10273	STUB1	ORPHA:412057
HP:0025270	Abnormal esophagus physiology	10273	STUB1	OMIM:618093
HP:0025270	Abnormal esophagus physiology	7415	VCP	OMIM:613954
HP:0025270	Abnormal esophagus physiology	7415	VCP	ORPHA:275872
HP:0025270	Abnormal esophagus physiology	7415	VCP	ORPHA:803
HP:0025270	Abnormal esophagus physiology	138050	HGSNAT	OMIM:252930
HP:0025270	Abnormal esophagus physiology	84081	NSRP1	OMIM:620001
HP:0025270	Abnormal esophagus physiology	5216	PFN1	OMIM:614808
HP:0025270	Abnormal esophagus physiology	5216	PFN1	ORPHA:803
HP:0025270	Abnormal esophagus physiology	1678	TIMM8A	ORPHA:52368
HP:0025270	Abnormal esophagus physiology	1678	TIMM8A	OMIM:304700
HP:0025270	Abnormal esophagus physiology	4914	NTRK1	ORPHA:642
HP:0025270	Abnormal esophagus physiology	64432	MRPS25	OMIM:619025
HP:0025270	Abnormal esophagus physiology	84842	HPDL	OMIM:619027
HP:0025270	Abnormal esophagus physiology	132001	TAMM41	OMIM:620139
HP:0025270	Abnormal esophagus physiology	3708	ITPR1	OMIM:206700
HP:0025270	Abnormal esophagus physiology	3708	ITPR1	OMIM:117360
HP:0025270	Abnormal esophagus physiology	3708	ITPR1	OMIM:606658
HP:0025270	Abnormal esophagus physiology	126	ADH1C	OMIM:168600
HP:0025270	Abnormal esophagus physiology	4576	MT-TT	OMIM:168600
HP:0025270	Abnormal esophagus physiology	9627	SNCAIP	OMIM:168600
HP:0025270	Abnormal esophagus physiology	6908	TBP	OMIM:168600
HP:0025270	Abnormal esophagus physiology	6908	TBP	OMIM:607136
HP:0025270	Abnormal esophagus physiology	4929	NR4A2	OMIM:168600
HP:0025270	Abnormal esophagus physiology	6311	ATXN2	OMIM:168600
HP:0025270	Abnormal esophagus physiology	6311	ATXN2	OMIM:183090
HP:0025270	Abnormal esophagus physiology	6311	ATXN2	ORPHA:803
HP:0025270	Abnormal esophagus physiology	6315	ATXN8OS	OMIM:168600
HP:0025270	Abnormal esophagus physiology	6315	ATXN8OS	ORPHA:98760
HP:0025270	Abnormal esophagus physiology	6315	ATXN8OS	OMIM:608768
HP:0025270	Abnormal esophagus physiology	4771	NF2	ORPHA:637
HP:0025270	Abnormal esophagus physiology	6622	SNCA	OMIM:168601
HP:0025270	Abnormal esophagus physiology	6622	SNCA	ORPHA:171695
HP:0025270	Abnormal esophagus physiology	6622	SNCA	ORPHA:411602
HP:0025270	Abnormal esophagus physiology	3156	HMGCR	OMIM:620375
HP:0025270	Abnormal esophagus physiology	5605	MAP2K2	ORPHA:638
HP:0025270	Abnormal esophagus physiology	4763	NF1	ORPHA:638
HP:0025270	Abnormal esophagus physiology	10128	LRPPRC	OMIM:220111
HP:0025270	Abnormal esophagus physiology	10128	LRPPRC	ORPHA:70472
HP:0025270	Abnormal esophagus physiology	773	CACNA1A	OMIM:183086
HP:0025270	Abnormal esophagus physiology	773	CACNA1A	ORPHA:2131
HP:0025270	Abnormal esophagus physiology	773	CACNA1A	ORPHA:98758
HP:0025270	Abnormal esophagus physiology	80308	FLAD1	OMIM:255100
HP:0025270	Abnormal esophagus physiology	9782	MATR3	OMIM:606070
HP:0025270	Abnormal esophagus physiology	9782	MATR3	ORPHA:600
HP:0025270	Abnormal esophagus physiology	9782	MATR3	ORPHA:803
HP:0025270	Abnormal esophagus physiology	400916	CHCHD10	OMIM:615911
HP:0025270	Abnormal esophagus physiology	400916	CHCHD10	ORPHA:275872
HP:0025270	Abnormal esophagus physiology	400916	CHCHD10	ORPHA:803
HP:0025270	Abnormal esophagus physiology	400916	CHCHD10	ORPHA:276435
HP:0025270	Abnormal esophagus physiology	775	CACNA1C	OMIM:620029
HP:0025270	Abnormal esophagus physiology	7138	TNNT1	OMIM:620389
HP:0025270	Abnormal esophagus physiology	2521	FUS	ORPHA:275872
HP:0025270	Abnormal esophagus physiology	2521	FUS	ORPHA:300605
HP:0025270	Abnormal esophagus physiology	2521	FUS	ORPHA:803
HP:0025270	Abnormal esophagus physiology	8878	SQSTM1	ORPHA:275872
HP:0025270	Abnormal esophagus physiology	8878	SQSTM1	ORPHA:803
HP:0025270	Abnormal esophagus physiology	8878	SQSTM1	OMIM:616437
HP:0025270	Abnormal esophagus physiology	23435	TARDBP	ORPHA:275872
HP:0025270	Abnormal esophagus physiology	23435	TARDBP	ORPHA:803
HP:0025270	Abnormal esophagus physiology	23435	TARDBP	OMIM:612069
HP:0025270	Abnormal esophagus physiology	29110	TBK1	ORPHA:275872
HP:0025270	Abnormal esophagus physiology	29110	TBK1	ORPHA:803
HP:0025270	Abnormal esophagus physiology	29110	TBK1	OMIM:616439
HP:0025270	Abnormal esophagus physiology	5111	PCNA	OMIM:615919
HP:0025270	Abnormal esophagus physiology	4758	NEU1	ORPHA:93399
HP:0025270	Abnormal esophagus physiology	79581	SLC52A2	OMIM:614707
HP:0025270	Abnormal esophagus physiology	5660	PSAP	OMIM:249900
HP:0025270	Abnormal esophagus physiology	4281	MID1	OMIM:300000
HP:0025270	Abnormal esophagus physiology	4281	MID1	ORPHA:2745
HP:0025270	Abnormal esophagus physiology	10324	KLHL41	ORPHA:171433
HP:0025270	Abnormal esophagus physiology	10324	KLHL41	ORPHA:171430
HP:0025270	Abnormal esophagus physiology	131377	KLHL40	ORPHA:171430
HP:0025270	Abnormal esophagus physiology	131377	KLHL40	OMIM:615348
HP:0025270	Abnormal esophagus physiology	56203	LMOD3	ORPHA:171430
HP:0025270	Abnormal esophagus physiology	4649	MYO9A	OMIM:618198
HP:0025270	Abnormal esophagus physiology	4649	MYO9A	ORPHA:98914
HP:0025270	Abnormal esophagus physiology	4010	LMX1B	ORPHA:495818
HP:0025270	Abnormal esophagus physiology	6812	STXBP1	ORPHA:495818
HP:0025270	Abnormal esophagus physiology	271	AMPD2	OMIM:615809
HP:0025270	Abnormal esophagus physiology	3119	HLA-DQB1	ORPHA:930
HP:0025270	Abnormal esophagus physiology	9244	CRLF1	ORPHA:930
HP:0025270	Abnormal esophagus physiology	3117	HLA-DQA1	ORPHA:930
HP:0025270	Abnormal esophagus physiology	4842	NOS1	ORPHA:930
HP:0025270	Abnormal esophagus physiology	7298	TYMS	OMIM:620040
HP:0025270	Abnormal esophagus physiology	2483	FRG1	OMIM:158900
HP:0025270	Abnormal esophagus physiology	729359	PLIN4	OMIM:601846
HP:0025270	Abnormal esophagus physiology	64207	IRF2BPL	OMIM:618088
HP:0025270	Abnormal esophagus physiology	146862	UNC45B	OMIM:619178
HP:0025270	Abnormal esophagus physiology	5119	CHMP1A	OMIM:614961
HP:0025270	Abnormal esophagus physiology	23522	KAT6B	OMIM:606170
HP:0025270	Abnormal esophagus physiology	7555	CNBP	ORPHA:606
HP:0025270	Abnormal esophagus physiology	9570	GOSR2	OMIM:620166
HP:0025270	Abnormal esophagus physiology	4151	MB	OMIM:620286
HP:0025270	Abnormal esophagus physiology	2332	FMR1	ORPHA:93256
HP:0025270	Abnormal esophagus physiology	7466	WFS1	OMIM:222300
HP:0025270	Abnormal esophagus physiology	26278	SACS	ORPHA:98
HP:0025270	Abnormal esophagus physiology	9839	ZEB2	ORPHA:261552
HP:0025270	Abnormal esophagus physiology	9839	ZEB2	ORPHA:261537
HP:0025270	Abnormal esophagus physiology	57190	SELENON	ORPHA:2020
HP:0025270	Abnormal esophagus physiology	4633	MYL2	ORPHA:2020
HP:0025270	Abnormal esophagus physiology	3679	ITGA7	ORPHA:2020
HP:0025270	Abnormal esophagus physiology	9200	HACD1	ORPHA:2020
HP:0025270	Abnormal esophagus physiology	51776	MAP3K20	ORPHA:2020
HP:0025270	Abnormal esophagus physiology	79152	FA2H	ORPHA:329308
HP:0025270	Abnormal esophagus physiology	23400	ATP13A2	ORPHA:306674
HP:0025270	Abnormal esophagus physiology	23400	ATP13A2	OMIM:606693
HP:0025270	Abnormal esophagus physiology	7156	TOP3A	OMIM:618098
HP:0025270	Abnormal esophagus physiology	1641	DCX	ORPHA:2148
HP:0025270	Abnormal esophagus physiology	60	ACTB	OMIM:607371
HP:0025270	Abnormal esophagus physiology	60	ACTB	ORPHA:79107
HP:0025270	Abnormal esophagus physiology	6662	SOX9	ORPHA:718
HP:0025270	Abnormal esophagus physiology	1600	DAB1	OMIM:615945
HP:0025270	Abnormal esophagus physiology	113278	SLC52A3	OMIM:211530
HP:0025270	Abnormal esophagus physiology	113278	SLC52A3	OMIM:211500
HP:0025270	Abnormal esophagus physiology	2395	FXN	ORPHA:95
HP:0025270	Abnormal esophagus physiology	5251	PHEX	ORPHA:89936
HP:0025270	Abnormal esophagus physiology	23533	PIK3R5	ORPHA:64753
HP:0025270	Abnormal esophagus physiology	23064	SETX	ORPHA:64753
HP:0025270	Abnormal esophagus physiology	23064	SETX	OMIM:606002
HP:0025270	Abnormal esophagus physiology	3211	HOXB1	OMIM:614744
HP:0025270	Abnormal esophagus physiology	6507	SLC1A3	ORPHA:2131
HP:0025270	Abnormal esophagus physiology	477	ATP1A2	ORPHA:2131
HP:0025270	Abnormal esophagus physiology	146057	TTBK2	ORPHA:98767
HP:0025270	Abnormal esophagus physiology	3748	KCNC3	ORPHA:98768
HP:0025270	Abnormal esophagus physiology	9289	ADGRG1	ORPHA:98889
HP:0025270	Abnormal esophagus physiology	5297	PI4KA	ORPHA:98889
HP:0025270	Abnormal esophagus physiology	5297	PI4KA	OMIM:619708
HP:0025270	Abnormal esophagus physiology	27286	SRPX2	ORPHA:98889
HP:0025270	Abnormal esophagus physiology	11128	POLR3A	OMIM:264090
HP:0025270	Abnormal esophagus physiology	11128	POLR3A	ORPHA:447896
HP:0025270	Abnormal esophagus physiology	11128	POLR3A	OMIM:607694
HP:0025270	Abnormal esophagus physiology	80704	SLC19A3	OMIM:607483
HP:0025270	Abnormal esophagus physiology	80025	PANK2	OMIM:234200
HP:0025270	Abnormal esophagus physiology	80025	PANK2	ORPHA:216873
HP:0025270	Abnormal esophagus physiology	80025	PANK2	ORPHA:216866
HP:0025270	Abnormal esophagus physiology	92667	MGME1	ORPHA:352447
HP:0025270	Abnormal esophagus physiology	6558	SLC12A2	OMIM:619083
HP:0025270	Abnormal esophagus physiology	724066	ATXN8	ORPHA:98760
HP:0025270	Abnormal esophagus physiology	724066	ATXN8	OMIM:608768
HP:0025270	Abnormal esophagus physiology	492	ATP2B3	OMIM:302500
HP:0025270	Abnormal esophagus physiology	3251	HPRT1	OMIM:300322
HP:0025270	Abnormal esophagus physiology	3208	HPCA	OMIM:224500
HP:0025270	Abnormal esophagus physiology	10280	SIGMAR1	ORPHA:300605
HP:0025270	Abnormal esophagus physiology	10558	SPTLC1	ORPHA:300605
HP:0025270	Abnormal esophagus physiology	6774	STAT3	OMIM:147060
HP:0025270	Abnormal esophagus physiology	2934	GSN	ORPHA:85448
HP:0025270	Abnormal esophagus physiology	255928	SYT14	ORPHA:284271
HP:0025270	Abnormal esophagus physiology	255928	SYT14	OMIM:614229
HP:0025270	Abnormal esophagus physiology	9409	PEX16	OMIM:614877
HP:0025270	Abnormal esophagus physiology	9440	MED17	OMIM:613668
HP:0025270	Abnormal esophagus physiology	2263	FGFR2	ORPHA:2363
HP:0025270	Abnormal esophagus physiology	2261	FGFR3	ORPHA:2363
HP:0025270	Abnormal esophagus physiology	2255	FGF10	ORPHA:2363
HP:0025270	Abnormal esophagus physiology	7443	VRK1	OMIM:607596
HP:0025270	Abnormal esophagus physiology	8314	BAP1	ORPHA:50251
HP:0025270	Abnormal esophagus physiology	6310	ATXN1	ORPHA:98755
HP:0025270	Abnormal esophagus physiology	6310	ATXN1	OMIM:164400
HP:0025270	Abnormal esophagus physiology	10133	OPTN	OMIM:613435
HP:0025270	Abnormal esophagus physiology	10133	OPTN	ORPHA:803
HP:0025270	Abnormal esophagus physiology	50628	GEMIN4	OMIM:617913
HP:0025270	Abnormal esophagus physiology	91574	MTRFR	OMIM:613559
HP:0025270	Abnormal esophagus physiology	85021	REPS1	OMIM:617916
HP:0025270	Abnormal esophagus physiology	3752	KCND3	OMIM:607346
HP:0025270	Abnormal esophagus physiology	25978	CHMP2B	ORPHA:803
HP:0025270	Abnormal esophagus physiology	3178	HNRNPA1	ORPHA:803
HP:0025270	Abnormal esophagus physiology	8148	TAF15	ORPHA:803
HP:0025270	Abnormal esophagus physiology	5445	PON2	ORPHA:803
HP:0025270	Abnormal esophagus physiology	9217	VAPB	ORPHA:803
HP:0025270	Abnormal esophagus physiology	9217	VAPB	OMIM:608627
HP:0025270	Abnormal esophagus physiology	5630	PRPH	ORPHA:803
HP:0025270	Abnormal esophagus physiology	5630	PRPH	OMIM:105400
HP:0025270	Abnormal esophagus physiology	55830	GLT8D1	ORPHA:803
HP:0025270	Abnormal esophagus physiology	755	CFAP410	ORPHA:803
HP:0025270	Abnormal esophagus physiology	10891	PPARGC1A	ORPHA:803
HP:0025270	Abnormal esophagus physiology	6647	SOD1	ORPHA:803
HP:0025270	Abnormal esophagus physiology	6647	SOD1	OMIM:105400
HP:0025270	Abnormal esophagus physiology	1639	DCTN1	ORPHA:803
HP:0025270	Abnormal esophagus physiology	1639	DCTN1	OMIM:105400
HP:0025270	Abnormal esophagus physiology	9896	FIG4	ORPHA:803
HP:0025270	Abnormal esophagus physiology	5444	PON1	ORPHA:803
HP:0025270	Abnormal esophagus physiology	5446	PON3	ORPHA:803
HP:0025270	Abnormal esophagus physiology	4744	NEFH	ORPHA:803
HP:0025270	Abnormal esophagus physiology	4744	NEFH	OMIM:105400
HP:0025270	Abnormal esophagus physiology	54209	TREM2	ORPHA:803
HP:0025270	Abnormal esophagus physiology	283	ANG	ORPHA:803
HP:0025270	Abnormal esophagus physiology	2733	GLE1	ORPHA:803
HP:0025270	Abnormal esophagus physiology	1610	DAO	ORPHA:803
HP:0025270	Abnormal esophagus physiology	2066	ERBB4	ORPHA:803
HP:0025270	Abnormal esophagus physiology	311	ANXA11	ORPHA:803
HP:0025270	Abnormal esophagus physiology	311	ANXA11	OMIM:617839
HP:0025270	Abnormal esophagus physiology	23025	UNC13A	ORPHA:803
HP:0025270	Abnormal esophagus physiology	899	CCNF	ORPHA:803
HP:0025270	Abnormal esophagus physiology	6509	SLC1A4	ORPHA:447997
HP:0025270	Abnormal esophagus physiology	6314	ATXN7	ORPHA:94147
HP:0025270	Abnormal esophagus physiology	6314	ATXN7	OMIM:164500
HP:0025270	Abnormal esophagus physiology	2776	GNAQ	ORPHA:3205
HP:0025270	Abnormal esophagus physiology	25793	FBXO7	ORPHA:171695
HP:0025270	Abnormal esophagus physiology	51067	YARS2	OMIM:613561
HP:0025270	Abnormal esophagus physiology	7407	VARS1	OMIM:617802
HP:0025270	Abnormal esophagus physiology	284119	CAVIN1	OMIM:613327
HP:0025270	Abnormal esophagus physiology	10382	TUBB4A	OMIM:128101
HP:0025270	Abnormal esophagus physiology	10382	TUBB4A	ORPHA:98805
HP:0025270	Abnormal esophagus physiology	23534	TNPO3	OMIM:608423
HP:0025270	Abnormal esophagus physiology	1861	TOR1A	OMIM:128100
HP:0025270	Abnormal esophagus physiology	54704	PDP1	OMIM:608782
HP:0025270	Abnormal esophagus physiology	1288	COL4A6	ORPHA:1018
HP:0025270	Abnormal esophagus physiology	1287	COL4A5	ORPHA:1018
HP:0025270	Abnormal esophagus physiology	55906	ZC4H2	OMIM:301041
HP:0025270	Abnormal esophagus physiology	2982	GUCY1A1	OMIM:615750
HP:0025270	Abnormal esophagus physiology	9420	CYP7B1	ORPHA:100986
HP:0025270	Abnormal esophagus physiology	29926	GMPPA	OMIM:615510
HP:0025270	Abnormal esophagus physiology	54832	VPS13C	OMIM:616840
HP:0025270	Abnormal esophagus physiology	23394	ADNP	OMIM:615873
HP:0025270	Abnormal esophagus physiology	57704	GBA2	ORPHA:352641
HP:0025270	Abnormal esophagus physiology	79848	CSPP1	OMIM:615636
HP:0025270	Abnormal esophagus physiology	6328	SCN3A	OMIM:617938
HP:0025270	Abnormal esophagus physiology	79587	CARS2	ORPHA:477774
HP:0025270	Abnormal esophagus physiology	10157	AASS	ORPHA:2203
HP:0025270	Abnormal esophagus physiology	2782	GNB1	OMIM:616973
HP:0025270	Abnormal esophagus physiology	79644	SRD5A3	OMIM:612379
HP:0025270	Abnormal esophagus physiology	3106	HLA-B	ORPHA:36426
HP:0025270	Abnormal esophagus physiology	10320	IKZF1	ORPHA:36426
HP:0025270	Abnormal esophagus physiology	27235	COQ2	OMIM:607426
HP:0025270	Abnormal esophagus physiology	25953	PNKD	OMIM:118800
HP:0025270	Abnormal esophagus physiology	8867	SYNJ1	OMIM:615530
HP:0025270	Abnormal esophagus physiology	4358	MPV17	OMIM:256810
HP:0025270	Abnormal esophagus physiology	2058	EPRS1	OMIM:617951
HP:0025270	Abnormal esophagus physiology	80746	TSEN2	OMIM:612389
HP:0025270	Abnormal esophagus physiology	23317	DNAJC13	ORPHA:411602
HP:0025270	Abnormal esophagus physiology	1981	EIF4G1	ORPHA:411602
HP:0025270	Abnormal esophagus physiology	55737	VPS35	ORPHA:411602
HP:0025270	Abnormal esophagus physiology	120892	LRRK2	ORPHA:411602
HP:0025270	Abnormal esophagus physiology	26058	GIGYF2	ORPHA:411602
HP:0025270	Abnormal esophagus physiology	51008	ASCC1	OMIM:616867
HP:0025270	Abnormal esophagus physiology	9325	TRIP4	OMIM:616866
HP:0025270	Abnormal esophagus physiology	7849	PAX8	ORPHA:95712
HP:0025270	Abnormal esophagus physiology	1482	NKX2-5	ORPHA:95712
HP:0025270	Abnormal esophagus physiology	128989	TANGO2	ORPHA:480864
HP:0025270	Abnormal esophagus physiology	5582	PRKCG	OMIM:605361
HP:0025270	Abnormal esophagus physiology	3418	IDH2	ORPHA:163634
HP:0025270	Abnormal esophagus physiology	3417	IDH1	ORPHA:163634
HP:0025270	Abnormal esophagus physiology	59336	PRDM13	OMIM:619909
HP:0025270	Abnormal esophagus physiology	79784	MYH14	ORPHA:397744
HP:0025270	Abnormal esophagus physiology	1103	CHAT	OMIM:254210
HP:0025270	Abnormal esophagus physiology	1103	CHAT	ORPHA:98914
HP:0025270	Abnormal esophagus physiology	84617	TUBB6	OMIM:617732
HP:0025270	Abnormal esophagus physiology	23556	PIGN	ORPHA:280633
HP:0025270	Abnormal esophagus physiology	2670	GFAP	ORPHA:363722
HP:0025270	Abnormal esophagus physiology	2670	GFAP	ORPHA:363717
HP:0025270	Abnormal esophagus physiology	122553	TRAPPC6B	OMIM:617862
HP:0025270	Abnormal esophagus physiology	28957	MRPS28	OMIM:618958
HP:0025270	Abnormal esophagus physiology	1305	COL13A1	ORPHA:98914
HP:0025270	Abnormal esophagus physiology	6576	SLC25A1	ORPHA:98914
HP:0025270	Abnormal esophagus physiology	375790	AGRN	ORPHA:98914
HP:0025270	Abnormal esophagus physiology	6572	SLC18A3	ORPHA:98914
HP:0025270	Abnormal esophagus physiology	6616	SNAP25	ORPHA:98914
HP:0025270	Abnormal esophagus physiology	8292	COLQ	ORPHA:98915
HP:0025270	Abnormal esophagus physiology	8292	COLQ	OMIM:603034
HP:0025270	Abnormal esophagus physiology	3913	LAMB2	ORPHA:98915
HP:0025270	Abnormal esophagus physiology	51	ACOX1	OMIM:264470
HP:0025270	Abnormal esophagus physiology	51	ACOX1	OMIM:618960
HP:0025270	Abnormal esophagus physiology	10577	NPC2	OMIM:607625
HP:0025270	Abnormal esophagus physiology	8913	CACNA1G	ORPHA:458803
HP:0025270	Abnormal esophagus physiology	8913	CACNA1G	OMIM:616795
HP:0025270	Abnormal esophagus physiology	6651	SON	ORPHA:500150
HP:0025270	Abnormal esophagus physiology	22943	DKK1	ORPHA:268882
HP:0025270	Abnormal esophagus physiology	8243	SMC1A	ORPHA:220386
HP:0025270	Abnormal esophagus physiology	7515	XRCC1	OMIM:617633
HP:0025270	Abnormal esophagus physiology	57731	SPTBN4	OMIM:617519
HP:0025270	Abnormal esophagus physiology	4359	MPZ	OMIM:607736
HP:0025270	Abnormal esophagus physiology	4204	MECP2	OMIM:300260
HP:0025270	Abnormal esophagus physiology	4747	NEFL	OMIM:607734
HP:0025270	Abnormal esophagus physiology	7543	ZFX	OMIM:301118
HP:0025270	Abnormal esophagus physiology	9373	PLAA	OMIM:617527
HP:0025270	Abnormal esophagus physiology	367	AR	OMIM:313200
HP:0025270	Abnormal esophagus physiology	8367	H4C5	OMIM:619950
HP:0025270	Abnormal esophagus physiology	340533	NEXMIF	OMIM:300912
HP:0025270	Abnormal esophagus physiology	340533	NEXMIF	ORPHA:85277
HP:0025270	Abnormal esophagus physiology	57128	LYRM4	OMIM:615595
HP:0025270	Abnormal esophagus physiology	8518	ELP1	ORPHA:1764
HP:0025270	Abnormal esophagus physiology	8518	ELP1	OMIM:223900
HP:0025270	Abnormal esophagus physiology	8425	LTBP4	OMIM:613177
HP:0025270	Abnormal esophagus physiology	1161	ERCC8	ORPHA:90324
HP:0025270	Abnormal esophagus physiology	2074	ERCC6	ORPHA:90324
HP:0025270	Abnormal esophagus physiology	115908	CTHRC1	OMIM:614266
HP:0025270	Abnormal esophagus physiology	4481	MSR1	OMIM:614266
HP:0025270	Abnormal esophagus physiology	5238	PGM3	ORPHA:443811
HP:0025270	Abnormal esophagus physiology	4897	NRCAM	OMIM:619833
HP:0025270	Abnormal esophagus physiology	81857	MED25	OMIM:616449
HP:0025270	Abnormal esophagus physiology	9786	KIAA0586	ORPHA:397715
HP:0025270	Abnormal esophagus physiology	7259	TSPYL1	OMIM:608800
HP:0025270	Abnormal esophagus physiology	7259	TSPYL1	ORPHA:168593
HP:0025270	Abnormal esophagus physiology	116931	MED12L	OMIM:618872
HP:0025270	Abnormal esophagus physiology	161582	DNAAF4	OMIM:615482
HP:0025270	Abnormal esophagus physiology	3020	H3-3A	OMIM:619720
HP:0025270	Abnormal esophagus physiology	3021	H3-3B	OMIM:619721
HP:0025270	Abnormal esophagus physiology	80816	ASXL3	OMIM:615485
HP:0025270	Abnormal esophagus physiology	283489	CHAMP1	OMIM:616579
HP:0025270	Abnormal esophagus physiology	8239	USP9X	OMIM:300919
HP:0025270	Abnormal esophagus physiology	166378	AFG2A	OMIM:616577
HP:0025270	Abnormal esophagus physiology	84520	GON7	OMIM:619603
HP:0025270	Abnormal esophagus physiology	6660	SOX5	ORPHA:313892
HP:0025270	Abnormal esophagus physiology	535	ATP6V0A1	OMIM:619971
HP:0025270	Abnormal esophagus physiology	3190	HNRNPK	OMIM:616580
HP:0025270	Abnormal esophagus physiology	816	CAMK2B	OMIM:617799
HP:0025270	Abnormal esophagus physiology	9968	MED12	ORPHA:93932
HP:0025270	Abnormal esophagus physiology	1183	CLCN4	ORPHA:485350
HP:0025270	Abnormal esophagus physiology	5832	ALDH18A1	OMIM:601162
HP:0025270	Abnormal esophagus physiology	5832	ALDH18A1	ORPHA:447757
HP:0025270	Abnormal esophagus physiology	1277	COL1A1	ORPHA:287
HP:0025270	Abnormal esophagus physiology	1289	COL5A1	ORPHA:287
HP:0025270	Abnormal esophagus physiology	1290	COL5A2	ORPHA:287
HP:0025270	Abnormal esophagus physiology	7020	TFAP2A	OMIM:113620
HP:0025270	Abnormal esophagus physiology	10484	SEC23A	OMIM:607812
HP:0025270	Abnormal esophagus physiology	22872	SEC31A	OMIM:618651
HP:0025270	Abnormal esophagus physiology	3737	KCNA2	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	1759	DNM1	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	8120	AP3B2	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	523	ATP6V1A	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	10991	SLC38A3	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	10991	SLC38A3	OMIM:619881
HP:0025270	Abnormal esophagus physiology	51343	FZR1	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	3747	KCNC2	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	1917	EEF1A2	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	2561	GABRB2	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	8831	SYNGAP1	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	2558	GABRA5	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	116150	NUS1	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	1213	CLTC	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	1213	CLTC	OMIM:617854
HP:0025270	Abnormal esophagus physiology	51741	WWOX	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	23334	SZT2	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	348980	HCN1	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	25977	NECAP1	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	23241	PACS2	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	16	AARS1	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	6334	SCN8A	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	9568	GABBR2	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	2555	GABRA2	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	55152	DALRD3	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	26999	CYFIP2	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	4915	NTRK2	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	25973	PARS2	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	23097	CDK19	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	2257	FGF12	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	5530	PPP3CA	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	22906	TRAK1	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	2566	GABRG2	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	7532	YWHAG	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	79876	UBA5	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	79876	UBA5	OMIM:617132
HP:0025270	Abnormal esophagus physiology	781	CACNA2D1	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	10659	CELF2	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	774	CACNA1B	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	774	CACNA1B	OMIM:618497
HP:0025270	Abnormal esophagus physiology	51412	ACTL6B	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	2290	FOXG1	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	2290	FOXG1	ORPHA:261144
HP:0025270	Abnormal esophagus physiology	2290	FOXG1	OMIM:613454
HP:0025270	Abnormal esophagus physiology	6506	SLC1A2	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	3745	KCNB1	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	284111	SLC13A5	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	22866	CNKSR2	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	6323	SCN1A	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	79947	DHDDS	ORPHA:442835
HP:0025270	Abnormal esophagus physiology	3981	LIG4	ORPHA:235
HP:0025270	Abnormal esophagus physiology	54888	NSUN2	ORPHA:235
HP:0025270	Abnormal esophagus physiology	9895	TECPR2	OMIM:615031
HP:0025270	Abnormal esophagus physiology	8493	PPM1D	OMIM:617450
HP:0025270	Abnormal esophagus physiology	23126	POGZ	OMIM:616364
HP:0025270	Abnormal esophagus physiology	23126	POGZ	ORPHA:468678
HP:0025270	Abnormal esophagus physiology	27125	AFF4	OMIM:616368
HP:0025270	Abnormal esophagus physiology	27125	AFF4	ORPHA:444077
HP:0025270	Abnormal esophagus physiology	1660	DHX9	OMIM:620988
HP:0025270	Abnormal esophagus physiology	51692	CPSF3	OMIM:619876
HP:0025270	Abnormal esophagus physiology	8021	NUP214	OMIM:618426
HP:0025270	Abnormal esophagus physiology	6134	RPL10	ORPHA:459070
HP:0025270	Abnormal esophagus physiology	6134	RPL10	OMIM:300998
HP:0025270	Abnormal esophagus physiology	6134	RPL10	ORPHA:435938
HP:0025270	Abnormal esophagus physiology	415	ARSL	ORPHA:79345
HP:0025270	Abnormal esophagus physiology	79796	ALG9	ORPHA:79328
HP:0025270	Abnormal esophagus physiology	4247	MGAT2	ORPHA:79329
HP:0025270	Abnormal esophagus physiology	6804	STX1A	ORPHA:586
HP:0025270	Abnormal esophagus physiology	6804	STX1A	ORPHA:904
HP:0025270	Abnormal esophagus physiology	2947	GSTM3	ORPHA:586
HP:0025270	Abnormal esophagus physiology	7040	TGFB1	ORPHA:586
HP:0025270	Abnormal esophagus physiology	2729	GCLC	ORPHA:586
HP:0025270	Abnormal esophagus physiology	1084	CEACAM3	ORPHA:586
HP:0025270	Abnormal esophagus physiology	6556	SLC11A1	ORPHA:586
HP:0025270	Abnormal esophagus physiology	51164	DCTN4	ORPHA:586
HP:0025270	Abnormal esophagus physiology	3783	KCNN4	ORPHA:586
HP:0025270	Abnormal esophagus physiology	4282	MIF	ORPHA:586
HP:0025270	Abnormal esophagus physiology	1909	EDNRA	ORPHA:586
HP:0025270	Abnormal esophagus physiology	6550	SLC9A3	ORPHA:586
HP:0025270	Abnormal esophagus physiology	3162	HMOX1	ORPHA:586
HP:0025270	Abnormal esophagus physiology	115019	SLC26A9	ORPHA:586
HP:0025270	Abnormal esophagus physiology	3077	HFE	ORPHA:586
HP:0025270	Abnormal esophagus physiology	11254	SLC6A14	ORPHA:586
HP:0025270	Abnormal esophagus physiology	5265	SERPINA1	ORPHA:586
HP:0025270	Abnormal esophagus physiology	1080	CFTR	ORPHA:586
HP:0025270	Abnormal esophagus physiology	22802	CLCA4	ORPHA:586
HP:0025270	Abnormal esophagus physiology	4680	CEACAM6	ORPHA:586
HP:0025270	Abnormal esophagus physiology	3785	KCNQ2	ORPHA:1949
HP:0025270	Abnormal esophagus physiology	3786	KCNQ3	ORPHA:1949
HP:0025270	Abnormal esophagus physiology	11231	SEC63	ORPHA:2924
HP:0025270	Abnormal esophagus physiology	5589	PRKCSH	ORPHA:2924
HP:0025270	Abnormal esophagus physiology	4041	LRP5	ORPHA:2924
HP:0025270	Abnormal esophagus physiology	2542	SLC37A4	OMIM:619525
HP:0025270	Abnormal esophagus physiology	9772	TMEM94	OMIM:618316
HP:0025270	Abnormal esophagus physiology	51341	ZBTB7A	OMIM:619769
HP:0025270	Abnormal esophagus physiology	9338	TCEAL1	OMIM:301094
HP:0025270	Abnormal esophagus physiology	6925	TCF4	OMIM:610954
HP:0025270	Abnormal esophagus physiology	6925	TCF4	ORPHA:2896
HP:0025270	Abnormal esophagus physiology	10743	RAI1	ORPHA:1713
HP:0025270	Abnormal esophagus physiology	10743	RAI1	ORPHA:819
HP:0025270	Abnormal esophagus physiology	10743	RAI1	OMIM:182290
HP:0025270	Abnormal esophagus physiology	23162	MAPK8IP3	OMIM:618443
HP:0025270	Abnormal esophagus physiology	54941	RNF125	OMIM:616260
HP:0025270	Abnormal esophagus physiology	197258	FCSK	OMIM:618324
HP:0025270	Abnormal esophagus physiology	79989	IFT56	OMIM:619534
HP:0025270	Abnormal esophagus physiology	85365	ALG2	OMIM:607906
HP:0025270	Abnormal esophagus physiology	259232	NALCN	OMIM:616266
HP:0025270	Abnormal esophagus physiology	259232	NALCN	ORPHA:562528
HP:0025270	Abnormal esophagus physiology	259232	NALCN	OMIM:615419
HP:0025270	Abnormal esophagus physiology	25836	NIPBL	OMIM:122470
HP:0025270	Abnormal esophagus physiology	25836	NIPBL	ORPHA:199
HP:0025270	Abnormal esophagus physiology	79087	ALG12	ORPHA:79324
HP:0025270	Abnormal esophagus physiology	2200	FBN1	OMIM:184900
HP:0025270	Abnormal esophagus physiology	2200	FBN1	ORPHA:2462
HP:0025270	Abnormal esophagus physiology	3756	KCNH1	OMIM:611816
HP:0025270	Abnormal esophagus physiology	3756	KCNH1	OMIM:135500
HP:0025270	Abnormal esophagus physiology	641	BLM	ORPHA:125
HP:0025270	Abnormal esophagus physiology	25970	SH2B1	ORPHA:261197
HP:0025270	Abnormal esophagus physiology	1387	CREBBP	OMIM:618332
HP:0025270	Abnormal esophagus physiology	1387	CREBBP	ORPHA:353281
HP:0025270	Abnormal esophagus physiology	1387	CREBBP	OMIM:180849
HP:0025270	Abnormal esophagus physiology	1387	CREBBP	ORPHA:353277
HP:0025270	Abnormal esophagus physiology	8621	CDK13	OMIM:617360
HP:0025270	Abnormal esophagus physiology	58497	PRUNE1	ORPHA:544469
HP:0025270	Abnormal esophagus physiology	1642	DDB1	OMIM:619426
HP:0025270	Abnormal esophagus physiology	6857	SYT1	OMIM:618218
HP:0025270	Abnormal esophagus physiology	6857	SYT1	ORPHA:522077
HP:0025270	Abnormal esophagus physiology	6778	STAT6	OMIM:620532
HP:0025270	Abnormal esophagus physiology	9900	SV2A	OMIM:620772
HP:0025270	Abnormal esophagus physiology	6477	SIAH1	OMIM:619314
HP:0025270	Abnormal esophagus physiology	4000	LMNA	OMIM:619793
HP:0025270	Abnormal esophagus physiology	6885	MAP3K7	OMIM:617137
HP:0025270	Abnormal esophagus physiology	6885	MAP3K7	OMIM:157800
HP:0025270	Abnormal esophagus physiology	55869	HDAC8	OMIM:300882
HP:0025270	Abnormal esophagus physiology	55869	HDAC8	ORPHA:199
HP:0025270	Abnormal esophagus physiology	6299	SALL1	OMIM:107480
HP:0025270	Abnormal esophagus physiology	64801	ARV1	OMIM:617020
HP:0025270	Abnormal esophagus physiology	29998	BICRA	OMIM:619325
HP:0025270	Abnormal esophagus physiology	63895	PIEZO2	OMIM:617146
HP:0025270	Abnormal esophagus physiology	2033	EP300	ORPHA:353284
HP:0025270	Abnormal esophagus physiology	2033	EP300	OMIM:180849
HP:0025270	Abnormal esophagus physiology	443	ASPA	ORPHA:314911
HP:0025270	Abnormal esophagus physiology	4952	OCRL	ORPHA:534
HP:0025270	Abnormal esophagus physiology	9126	SMC3	OMIM:610759
HP:0025270	Abnormal esophagus physiology	9126	SMC3	ORPHA:199
HP:0025270	Abnormal esophagus physiology	55777	MBD5	OMIM:156200
HP:0025270	Abnormal esophagus physiology	112939	NACC1	OMIM:617393
HP:0025270	Abnormal esophagus physiology	4998	ORC1	OMIM:224690
HP:0025270	Abnormal esophagus physiology	54496	PRMT7	OMIM:617157
HP:0025270	Abnormal esophagus physiology	54551	MAGEL2	ORPHA:398069
HP:0025270	Abnormal esophagus physiology	54551	MAGEL2	OMIM:615547
HP:0025270	Abnormal esophagus physiology	5831	PYCR1	OMIM:612940
HP:0025270	Abnormal esophagus physiology	23476	BRD4	OMIM:620568
HP:0025270	Abnormal esophagus physiology	23476	BRD4	ORPHA:199
HP:0025270	Abnormal esophagus physiology	201163	FLCN	OMIM:610883
HP:0025270	Abnormal esophagus physiology	51079	NDUFA13	OMIM:618249
HP:0025270	Abnormal esophagus physiology	9719	ADAMTSL2	ORPHA:1901
HP:0025270	Abnormal esophagus physiology	9509	ADAMTS2	ORPHA:1901
HP:0025270	Abnormal esophagus physiology	1312	COMT	ORPHA:567
HP:0025270	Abnormal esophagus physiology	221037	JMJD1C	ORPHA:567
HP:0025270	Abnormal esophagus physiology	2812	GP1BB	ORPHA:567
HP:0025270	Abnormal esophagus physiology	6239	RREB1	ORPHA:567
HP:0025270	Abnormal esophagus physiology	6899	TBX1	ORPHA:567
HP:0025270	Abnormal esophagus physiology	6899	TBX1	OMIM:188400
HP:0025270	Abnormal esophagus physiology	7290	HIRA	ORPHA:567
HP:0025270	Abnormal esophagus physiology	9632	SEC24C	ORPHA:567
HP:0025270	Abnormal esophagus physiology	7353	UFD1	ORPHA:567
HP:0025270	Abnormal esophagus physiology	421	ARVCF	ORPHA:567
HP:0025270	Abnormal esophagus physiology	2778	GNAS	ORPHA:562
HP:0025270	Abnormal esophagus physiology	3265	HRAS	ORPHA:3071
HP:0025270	Abnormal esophagus physiology	7703	PCGF2	OMIM:618371
HP:0025270	Abnormal esophagus physiology	9496	TBX4	ORPHA:261279
HP:0025270	Abnormal esophagus physiology	2743	GLRB	ORPHA:3197
HP:0025270	Abnormal esophagus physiology	2743	GLRB	OMIM:614619
HP:0025270	Abnormal esophagus physiology	2741	GLRA1	ORPHA:3197
HP:0025270	Abnormal esophagus physiology	10243	GPHN	ORPHA:3197
HP:0025270	Abnormal esophagus physiology	84896	ATAD1	ORPHA:3197
HP:0025270	Abnormal esophagus physiology	9152	SLC6A5	ORPHA:3197
HP:0025270	Abnormal esophagus physiology	9152	SLC6A5	OMIM:614618
HP:0025270	Abnormal esophagus physiology	372	ARCN1	OMIM:617164
HP:0025270	Abnormal esophagus physiology	8802	SUCLG1	ORPHA:17
HP:0025270	Abnormal esophagus physiology	3188	HNRNPH2	OMIM:300986
HP:0025270	Abnormal esophagus physiology	5000	ORC4	OMIM:613800
HP:0025270	Abnormal esophagus physiology	23594	ORC6	OMIM:613803
HP:0025270	Abnormal esophagus physiology	990	CDC6	OMIM:613805
HP:0025270	Abnormal esophagus physiology	2316	FLNA	ORPHA:75497
HP:0025270	Abnormal esophagus physiology	2316	FLNA	ORPHA:98892
HP:0025270	Abnormal esophagus physiology	37	ACADVL	OMIM:201475
HP:0025270	Abnormal esophagus physiology	54809	SAMD9	OMIM:617053
HP:0025270	Abnormal esophagus physiology	57003	CCDC47	OMIM:618268
HP:0025270	Abnormal esophagus physiology	10681	GNB5	OMIM:617173
HP:0025270	Abnormal esophagus physiology	10681	GNB5	OMIM:617182
HP:0025270	Abnormal esophagus physiology	10681	GNB5	ORPHA:542306
HP:0025270	Abnormal esophagus physiology	64840	PORCN	ORPHA:2092
HP:0025270	Abnormal esophagus physiology	10847	SRCAP	OMIM:619595
HP:0025270	Abnormal esophagus physiology	10847	SRCAP	ORPHA:2044
HP:0025270	Abnormal esophagus physiology	51604	PIGT	ORPHA:369837
HP:0025270	Abnormal esophagus physiology	246329	STAC3	ORPHA:168572
HP:0025270	Abnormal esophagus physiology	526	ATP6V1B2	ORPHA:79500
HP:0025270	Abnormal esophagus physiology	57465	TBC1D24	ORPHA:79500
HP:0025270	Abnormal esophagus physiology	11198	SUPT16H	OMIM:619480
HP:0025270	Abnormal esophagus physiology	2887	GRB10	ORPHA:96182
HP:0025270	Abnormal esophagus physiology	2077	ERF	OMIM:617180
HP:0025270	Abnormal esophagus physiology	6872	TAF1	OMIM:300966
HP:0025270	Abnormal esophagus physiology	374879	ZNF699	OMIM:619488
HP:0025270	Abnormal esophagus physiology	4841	NONO	OMIM:300967
HP:0025270	Abnormal esophagus physiology	4841	NONO	ORPHA:466791
HP:0025270	Abnormal esophagus physiology	5058	PAK1	OMIM:618158
HP:0025270	Abnormal esophagus physiology	57038	RARS2	OMIM:611523
HP:0025270	Abnormal esophagus physiology	8911	CACNA1I	OMIM:620114
HP:0025270	Abnormal esophagus physiology	10551	AGR2	OMIM:620233
HP:0025270	Abnormal esophagus physiology	4221	MEN1	ORPHA:652
HP:0025270	Abnormal esophagus physiology	1027	CDKN1B	ORPHA:652
HP:0025270	Abnormal esophagus physiology	1026	CDKN1A	ORPHA:652
HP:0025270	Abnormal esophagus physiology	1030	CDKN2B	ORPHA:652
HP:0025270	Abnormal esophagus physiology	1031	CDKN2C	ORPHA:652
HP:0025270	Abnormal esophagus physiology	80267	EDEM3	OMIM:619493
HP:0025270	Abnormal esophagus physiology	1650	DDOST	ORPHA:300536
HP:0025270	Abnormal esophagus physiology	1650	DDOST	OMIM:614507
HP:0025270	Abnormal esophagus physiology	6748	SSR4	ORPHA:370927
HP:0025270	Abnormal esophagus physiology	4081	MAB21L1	ORPHA:495875
HP:0025270	Abnormal esophagus physiology	2581	GALC	ORPHA:206436
HP:0025270	Abnormal esophagus physiology	10079	ATP9A	OMIM:620242
HP:0025270	Abnormal esophagus physiology	28952	CCDC22	ORPHA:7
HP:0025270	Abnormal esophagus physiology	57020	VPS35L	ORPHA:7
HP:0025270	Abnormal esophagus physiology	23040	MYT1L	ORPHA:647799
HP:0025270	Abnormal esophagus physiology	27161	AGO2	OMIM:619149
HP:0025270	Abnormal esophagus physiology	55294	FBXW7	OMIM:620012
HP:0025270	Abnormal esophagus physiology	283450	HECTD4	OMIM:620250
HP:0025270	Abnormal esophagus physiology	8085	KMT2D	OMIM:147920
HP:0025270	Abnormal esophagus physiology	8085	KMT2D	OMIM:620186
HP:0025270	Abnormal esophagus physiology	8085	KMT2D	ORPHA:2322
HP:0025270	Abnormal esophagus physiology	7403	KDM6A	OMIM:147920
HP:0025270	Abnormal esophagus physiology	7403	KDM6A	ORPHA:2322
HP:0025270	Abnormal esophagus physiology	8506	CNTNAP1	OMIM:618186
HP:0025270	Abnormal esophagus physiology	55503	TRPV6	OMIM:618188
HP:0025270	Abnormal esophagus physiology	5885	RAD21	OMIM:614701
HP:0025270	Abnormal esophagus physiology	5885	RAD21	ORPHA:199
HP:0025270	Abnormal esophagus physiology	652	BMP4	ORPHA:828
HP:0025270	Abnormal esophagus physiology	7355	SLC35A2	ORPHA:356961
HP:0025270	Abnormal esophagus physiology	7355	SLC35A2	OMIM:300896
HP:0025270	Abnormal esophagus physiology	10274	STAG1	ORPHA:502434
HP:0025270	Abnormal esophagus physiology	10274	STAG1	OMIM:617635
HP:0025270	Abnormal esophagus physiology	64324	NSD1	ORPHA:821
HP:0025270	Abnormal esophagus physiology	64324	NSD1	OMIM:117550
HP:0025270	Abnormal esophagus physiology	10297	APC2	ORPHA:821
HP:0025270	Abnormal esophagus physiology	5447	POR	ORPHA:95699
HP:0025270	Abnormal esophagus physiology	4784	NFIX	ORPHA:447980
HP:0025270	Abnormal esophagus physiology	6531	SLC6A3	ORPHA:238455
HP:0025270	Abnormal esophagus physiology	6531	SLC6A3	OMIM:613135
HP:0025270	Abnormal esophagus physiology	80232	WDR26	ORPHA:513456
HP:0025270	Abnormal esophagus physiology	80232	WDR26	OMIM:617616
HP:0025270	Abnormal esophagus physiology	51506	UFC1	OMIM:618076
HP:0025270	Abnormal esophagus physiology	2314	FLII	ORPHA:819
HP:0025270	Abnormal esophagus physiology	23096	IQSEC2	ORPHA:819
HP:0025270	Abnormal esophagus physiology	10522	DEAF1	ORPHA:819
HP:0025270	Abnormal esophagus physiology	1717	DHCR7	ORPHA:818
HP:0025270	Abnormal esophagus physiology	1717	DHCR7	OMIM:270400
HP:0025270	Abnormal esophagus physiology	9915	ARNT2	OMIM:615926
HP:0025270	Abnormal esophagus physiology	10978	CLP1	OMIM:615803
HP:0025270	Abnormal esophagus physiology	5979	RET	ORPHA:99803
HP:0025270	Abnormal esophagus physiology	429	ASCL1	ORPHA:99803
HP:0025270	Abnormal esophagus physiology	8929	PHOX2B	ORPHA:99803
HP:0025270	Abnormal esophagus physiology	1353	COX11	OMIM:620275
HP:0025270	Abnormal esophagus physiology	4868	NPHS1	OMIM:256300
HP:0025270	Abnormal esophagus physiology	6595	SMARCA2	OMIM:619293
HP:0025270	Abnormal esophagus physiology	3899	AFF3	OMIM:619297
HP:0025270	Abnormal esophagus physiology	1136	CHRNA3	OMIM:191800
HP:0025270	Abnormal esophagus physiology	80204	FBXO11	OMIM:618089
HP:0025270	Abnormal esophagus physiology	6440	SFTPC	ORPHA:2032
HP:0025270	Abnormal esophagus physiology	729238	SFTPA2	ORPHA:2032
HP:0025270	Abnormal esophagus physiology	79991	STN1	ORPHA:2032
HP:0025270	Abnormal esophagus physiology	653509	SFTPA1	ORPHA:2032
HP:0025270	Abnormal esophagus physiology	21	ABCA3	ORPHA:2032
HP:0025270	Abnormal esophagus physiology	1832	DSP	ORPHA:2032
HP:0025270	Abnormal esophagus physiology	727897	MUC5B	ORPHA:2032
HP:0025270	Abnormal esophagus physiology	10144	FAM13A	ORPHA:2032
HP:0025270	Abnormal esophagus physiology	23250	ATP11A	ORPHA:2032
HP:0025270	Abnormal esophagus physiology	91039	DPP9	ORPHA:2032
HP:0025270	Abnormal esophagus physiology	51750	RTEL1	ORPHA:2032
HP:0025270	Abnormal esophagus physiology	7012	TERC	ORPHA:2032
HP:0025270	Abnormal esophagus physiology	5073	PARN	ORPHA:2032
HP:0025270	Abnormal esophagus physiology	7015	TERT	ORPHA:2032
HP:0025270	Abnormal esophagus physiology	7015	TERT	OMIM:614742
HP:0025270	Abnormal esophagus physiology	546	ATRX	ORPHA:847
HP:0025270	Abnormal esophagus physiology	546	ATRX	OMIM:309580
HP:0025270	Abnormal esophagus physiology	546	ATRX	OMIM:301040
HP:0025270	Abnormal esophagus physiology	8546	AP3B1	OMIM:608233
HP:0025270	Abnormal esophagus physiology	26523	AGO1	OMIM:620292
HP:0025270	Abnormal esophagus physiology	4212	MEIS2	OMIM:600987
HP:0025270	Abnormal esophagus physiology	132158	GLYCTK	OMIM:220120
HP:0025270	Abnormal esophagus physiology	79813	EHMT1	OMIM:610253
HP:0025270	Abnormal esophagus physiology	79813	EHMT1	ORPHA:261652
HP:0025270	Abnormal esophagus physiology	25942	SIN3A	OMIM:613406
HP:0025270	Abnormal esophagus physiology	7468	NSD2	OMIM:194190
HP:0025270	Abnormal esophagus physiology	10815	CPLX1	OMIM:194190
HP:0025270	Abnormal esophagus physiology	1487	CTBP1	OMIM:194190
HP:0025270	Abnormal esophagus physiology	53834	FGFRL1	OMIM:194190
HP:0025270	Abnormal esophagus physiology	3954	LETM1	OMIM:194190
HP:0025270	Abnormal esophagus physiology	5826	ABCD4	OMIM:614857
HP:0025270	Abnormal esophagus physiology	25923	ATL3	ORPHA:36386
HP:0025270	Abnormal esophagus physiology	9517	SPTLC2	ORPHA:36386
HP:0025270	Abnormal esophagus physiology	51062	ATL1	ORPHA:36386
HP:0025270	Abnormal esophagus physiology	375	ARF1	ORPHA:98892
HP:0025270	Abnormal esophagus physiology	4131	MAP1B	ORPHA:98892
HP:0025270	Abnormal esophagus physiology	23327	NEDD4L	ORPHA:98892
HP:0025270	Abnormal esophagus physiology	160418	TMTC3	ORPHA:98892
HP:0025270	Abnormal esophagus physiology	10564	ARFGEF2	ORPHA:98892
HP:0025270	Abnormal esophagus physiology	55780	ERMARD	ORPHA:98892
HP:0025270	Abnormal esophagus physiology	7840	ALMS1	ORPHA:64
HP:0025270	Abnormal esophagus physiology	56006	SMG9	OMIM:616920
HP:0025270	Abnormal esophagus physiology	7461	CLIP2	ORPHA:904
HP:0025270	Abnormal esophagus physiology	84277	DNAJC30	ORPHA:904
HP:0025270	Abnormal esophagus physiology	8468	FKBP6	ORPHA:904
HP:0025270	Abnormal esophagus physiology	5982	RFC2	ORPHA:904
HP:0025270	Abnormal esophagus physiology	2969	GTF2I	ORPHA:904
HP:0025270	Abnormal esophagus physiology	3984	LIMK1	ORPHA:904
HP:0025270	Abnormal esophagus physiology	9569	GTF2IRD1	ORPHA:904
HP:0025270	Abnormal esophagus physiology	155382	VPS37D	ORPHA:904
HP:0025270	Abnormal esophagus physiology	155368	METTL27	ORPHA:904
HP:0025270	Abnormal esophagus physiology	114049	BUD23	ORPHA:904
HP:0025270	Abnormal esophagus physiology	7458	EIF4H	ORPHA:904
HP:0025270	Abnormal esophagus physiology	84163	GTF2IRD2	ORPHA:904
HP:0025270	Abnormal esophagus physiology	26608	TBL2	ORPHA:904
HP:0025270	Abnormal esophagus physiology	653361	NCF1	ORPHA:904
HP:0025270	Abnormal esophagus physiology	135886	TMEM270	ORPHA:904
HP:0025270	Abnormal esophagus physiology	9031	BAZ1B	ORPHA:904
HP:0025270	Abnormal esophagus physiology	2006	ELN	ORPHA:904
HP:0025270	Abnormal esophagus physiology	2006	ELN	OMIM:194050
HP:0025270	Abnormal esophagus physiology	10056	FARSB	OMIM:613658
HP:0025270	Abnormal esophagus physiology	81031	SLC2A10	ORPHA:3342
HP:0025270	Abnormal esophagus physiology	23137	SMC5	OMIM:620185
HP:0025270	Abnormal esophagus physiology	51611	DPH5	OMIM:620070
HP:0025270	Abnormal esophagus physiology	58508	KMT2C	ORPHA:261652
HP:0025270	Abnormal esophagus physiology	5594	MAPK1	OMIM:619087
HP:0025270	Abnormal esophagus physiology	23261	CAMTA1	OMIM:614756
HP:0025270	Abnormal esophagus physiology	10472	ZBTB18	OMIM:612337
HP:0025270	Abnormal esophagus physiology	51085	MLXIPL	OMIM:194050
HP:0025270	Abnormal esophagus physiology	3187	HNRNPH1	OMIM:620083
HP:0025270	Abnormal esophagus physiology	2535	FZD2	OMIM:164745
HP:0025270	Abnormal esophagus physiology	171023	ASXL1	OMIM:605039
HP:0025270	Abnormal esophagus physiology	55023	PHIP	ORPHA:589905
HP:0025270	Abnormal esophagus physiology	65125	WNK1	OMIM:201300
HP:0025270	Abnormal esophagus physiology	54463	RETREG1	OMIM:201300
HP:0025270	Abnormal esophagus physiology	6335	SCN9A	OMIM:201300
HP:0025270	Abnormal esophagus physiology	547	KIF1A	OMIM:201300
HP:0025270	Abnormal esophagus physiology	667	DST	OMIM:614653
HP:0025270	Abnormal esophagus physiology	55690	PACS1	ORPHA:329224
HP:0025270	Abnormal esophagus physiology	51053	GMNN	OMIM:616835
HP:0025270	Abnormal esophagus physiology	10664	CTCF	OMIM:615502
HP:0025270	Abnormal esophagus physiology	10664	CTCF	ORPHA:363611
HP:0025270	Abnormal esophagus physiology	196528	ARID2	OMIM:617808
HP:0025270	Abnormal esophagus physiology	91949	COG7	OMIM:608779
HP:0025270	Abnormal esophagus physiology	9780	PIEZO1	OMIM:616843
HP:0025270	Abnormal esophagus physiology	100151683	RNU4ATAC	OMIM:210710
HP:0025270	Abnormal esophagus physiology	1280	COL2A1	ORPHA:93316
HP:0025270	Abnormal esophagus physiology	85358	SHANK3	OMIM:606232
HP:0025270	Abnormal esophagus physiology	113235	SLC46A1	ORPHA:90045
HP:0025270	Abnormal esophagus physiology	113179	ADAT3	ORPHA:363528
HP:0025270	Abnormal esophagus physiology	11151	CORO1A	OMIM:615401
HP:0025270	Abnormal esophagus physiology	54931	TRMT10C	OMIM:616974
HP:0025270	Abnormal esophagus physiology	3097	HIVEP2	OMIM:616977
HP:0025270	Abnormal esophagus physiology	10560	SLC19A2	OMIM:249270
HP:0025270	Abnormal esophagus physiology	6709	SPTAN1	OMIM:613477
HP:0025270	Abnormal esophagus physiology	9378	NRXN1	OMIM:614325
HP:0025270	Abnormal esophagus physiology	5160	PDHA1	ORPHA:79243
HP:0025270	Abnormal esophagus physiology	84693	MCEE	OMIM:251120
HP:0025270	Abnormal esophagus physiology	10943	MSL3	OMIM:301032
HP:0025270	Abnormal esophagus physiology	5723	PSPH	ORPHA:79350
HP:0025270	Abnormal esophagus physiology	26227	PHGDH	ORPHA:79351
HP:0025270	Abnormal esophagus physiology	6878	TAF6	ORPHA:199
HP:0025270	Abnormal esophagus physiology	7874	USP7	ORPHA:500055
HP:0025270	Abnormal esophagus physiology	6628	SNRPB	OMIM:117650
HP:0025270	Abnormal esophagus physiology	29957	SLC25A24	OMIM:612289
HP:0025270	Abnormal esophagus physiology	80152	CENPT	OMIM:618702
HP:0025270	Abnormal esophagus physiology	3575	IL7R	OMIM:608971
HP:0025270	Abnormal esophagus physiology	6476	SI	ORPHA:35122
HP:0025270	Abnormal esophagus physiology	5293	PIK3CD	ORPHA:221139
HP:0025270	Abnormal esophagus physiology	90417	KNSTRN	ORPHA:221139
HP:0025270	Abnormal esophagus physiology	8405	SPOP	OMIM:618829
HP:0025270	Abnormal esophagus physiology	83737	ITCH	OMIM:613385
HP:0025270	Abnormal esophagus physiology	116461	TSEN15	ORPHA:2524
HP:0025270	Abnormal esophagus physiology	79042	TSEN34	ORPHA:2524
HP:0025270	Abnormal esophagus physiology	51091	SEPSECS	ORPHA:2524
HP:0025270	Abnormal esophagus physiology	57688	ZSWIM6	OMIM:617865
HP:0025270	Abnormal esophagus physiology	2890	GRIA1	OMIM:619927
HP:0025270	Abnormal esophagus physiology	7291	TWIST1	OMIM:617746
HP:0025270	Abnormal esophagus physiology	139285	AMER1	OMIM:300373
HP:0025270	Abnormal esophagus physiology	440	ASNS	OMIM:615574
HP:0025270	Abnormal esophagus physiology	5430	POLR2A	OMIM:618603
HP:0025270	Abnormal esophagus physiology	9203	ZMYM3	OMIM:301111
HP:0025270	Abnormal esophagus physiology	29928	TIMM22	OMIM:618851
HP:0025270	Abnormal esophagus physiology	8803	SUCLA2	OMIM:612073
HP:0025270	Abnormal esophagus physiology	25871	NEPRO	OMIM:618853
HP:0025270	Abnormal esophagus physiology	84665	MYPN	ORPHA:171439
HP:0025270	Abnormal esophagus physiology	390594	KBTBD13	ORPHA:171439
HP:0025270	Abnormal esophagus physiology	10667	FARS2	ORPHA:466722
HP:0025270	Abnormal esophagus physiology	55699	IARS2	OMIM:616007
HP:0025270	Abnormal esophagus physiology	55699	IARS2	ORPHA:436174
HP:0025270	Abnormal esophagus physiology	10625	IVNS1ABP	OMIM:618969
HP:0025270	Abnormal esophagus physiology	60684	TRAPPC11	OMIM:615356
HP:0025270	Abnormal esophagus physiology	60684	TRAPPC11	ORPHA:869
HP:0025270	Abnormal esophagus physiology	8086	AAAS	ORPHA:869
HP:0025270	Abnormal esophagus physiology	8086	AAAS	OMIM:231550
HP:0025270	Abnormal esophagus physiology	2717	GLA	ORPHA:324
HP:0025270	Abnormal esophagus physiology	56246	MRAP	OMIM:607398
HP:0025270	Abnormal esophagus physiology	28982	FLVCR1	OMIM:609033
HP:0025270	Abnormal esophagus physiology	343641	TGM6	OMIM:613908
HP:0025270	Abnormal esophagus physiology	343641	TGM6	ORPHA:276193
HP:0025270	Abnormal esophagus physiology	5654	HTRA1	ORPHA:199354
HP:0025270	Abnormal esophagus physiology	5917	RARS1	OMIM:616140
HP:0025270	Abnormal esophagus physiology	5917	RARS1	ORPHA:438114
HP:0025270	Abnormal esophagus physiology	1593	CYP27A1	OMIM:213700
HP:0025270	Abnormal esophagus physiology	2583	B4GALNT1	ORPHA:101006
HP:0025270	Abnormal esophagus physiology	23503	ZFYVE26	ORPHA:100996
HP:0025270	Abnormal esophagus physiology	3145	HMBS	ORPHA:79276
HP:0025270	Abnormal esophagus physiology	538	ATP7A	ORPHA:198
HP:0025270	Abnormal esophagus physiology	79651	RHBDF2	ORPHA:2198
HP:0025270	Abnormal esophagus physiology	55768	NGLY1	OMIM:615273
HP:0025270	Abnormal esophagus physiology	55768	NGLY1	ORPHA:404454
HP:0025270	Abnormal esophagus physiology	5376	PMP22	ORPHA:98916
HP:0025270	Abnormal esophagus physiology	10755	GIPC1	ORPHA:98897
HP:0025270	Abnormal esophagus physiology	6515	SLC2A3	ORPHA:399
HP:0025270	Abnormal esophagus physiology	7528	YY1	ORPHA:506358
HP:0025270	Abnormal esophagus physiology	5393	EXOSC9	OMIM:618065
HP:0025270	Abnormal esophagus physiology	112	ADCY6	OMIM:616287
HP:0025270	Abnormal esophagus physiology	7314	UBB	ORPHA:99772
HP:0025270	Abnormal esophagus physiology	57822	GRHL3	ORPHA:99772
HP:0025270	Abnormal esophagus physiology	222663	SCUBE3	OMIM:619184
HP:0025270	Abnormal esophagus physiology	57589	RIC1	ORPHA:199306
HP:0025270	Abnormal esophagus physiology	1739	DLG1	ORPHA:199306
HP:0025270	Abnormal esophagus physiology	999	CDH1	ORPHA:199306
HP:0025270	Abnormal esophagus physiology	1748	DLX4	ORPHA:199306
HP:0025270	Abnormal esophagus physiology	22837	COBLL1	ORPHA:199306
HP:0025270	Abnormal esophagus physiology	54848	ARHGEF38	ORPHA:199306
HP:0025270	Abnormal esophagus physiology	9411	ARHGAP29	ORPHA:199306
HP:0025271	Esophageal spasms	5277	PIGA	ORPHA:447
HP:0025274	Ovarian dermoid cyst	4437	MSH3	ORPHA:480536
HP:0025274	Ovarian dermoid cyst	5573	PRKAR1A	ORPHA:1359
HP:0025274	Ovarian dermoid cyst	50940	PDE11A	ORPHA:1359
HP:0025276	Abnormality of skin adnexa physiology	1497	CTNS	OMIM:219800
HP:0025276	Abnormality of skin adnexa physiology	54084	TSPEAR	OMIM:618180
HP:0025276	Abnormality of skin adnexa physiology	60529	ALX4	OMIM:613451
HP:0025276	Abnormality of skin adnexa physiology	54101	RIPK4	ORPHA:1401
HP:0025276	Abnormality of skin adnexa physiology	8518	ELP1	ORPHA:1764
HP:0025276	Abnormality of skin adnexa physiology	85446	ZFHX2	OMIM:147430
HP:0025276	Abnormality of skin adnexa physiology	29926	GMPPA	OMIM:615510
HP:0025276	Abnormality of skin adnexa physiology	8573	CASK	OMIM:300749
HP:0025276	Abnormality of skin adnexa physiology	85358	SHANK3	OMIM:606232
HP:0025276	Abnormality of skin adnexa physiology	2072	ERCC4	ORPHA:90321
HP:0025276	Abnormality of skin adnexa physiology	57511	COG6	ORPHA:363523
HP:0025276	Abnormality of skin adnexa physiology	57511	COG6	OMIM:614576
HP:0025276	Abnormality of skin adnexa physiology	57511	COG6	OMIM:615328
HP:0025276	Abnormality of skin adnexa physiology	3074	HEXB	OMIM:268800
HP:0025276	Abnormality of skin adnexa physiology	113179	ADAT3	ORPHA:363528
HP:0025276	Abnormality of skin adnexa physiology	7051	TGM1	ORPHA:100976
HP:0025276	Abnormality of skin adnexa physiology	7051	TGM1	ORPHA:79394
HP:0025276	Abnormality of skin adnexa physiology	5818	NECTIN1	ORPHA:3253
HP:0025276	Abnormality of skin adnexa physiology	170302	ARX	ORPHA:452
HP:0025276	Abnormality of skin adnexa physiology	284252	KCTD1	ORPHA:2036
HP:0025276	Abnormality of skin adnexa physiology	284252	KCTD1	OMIM:181270
HP:0025276	Abnormality of skin adnexa physiology	6786	STIM1	OMIM:612783
HP:0025276	Abnormality of skin adnexa physiology	6663	SOX10	ORPHA:163746
HP:0025276	Abnormality of skin adnexa physiology	6663	SOX10	OMIM:609136
HP:0025276	Abnormality of skin adnexa physiology	412	STS	ORPHA:281090
HP:0025276	Abnormality of skin adnexa physiology	412	STS	OMIM:308100
HP:0025276	Abnormality of skin adnexa physiology	412	STS	ORPHA:461
HP:0025276	Abnormality of skin adnexa physiology	9325	TRIP4	OMIM:616866
HP:0025276	Abnormality of skin adnexa physiology	80326	WNT10A	OMIM:257980
HP:0025276	Abnormality of skin adnexa physiology	80326	WNT10A	OMIM:150400
HP:0025276	Abnormality of skin adnexa physiology	80326	WNT10A	ORPHA:248
HP:0025276	Abnormality of skin adnexa physiology	2717	GLA	ORPHA:324
HP:0025276	Abnormality of skin adnexa physiology	2717	GLA	OMIM:301500
HP:0025276	Abnormality of skin adnexa physiology	6768	ST14	OMIM:602400
HP:0025276	Abnormality of skin adnexa physiology	1301	COL11A1	ORPHA:560
HP:0025276	Abnormality of skin adnexa physiology	204219	CERS3	OMIM:615023
HP:0025276	Abnormality of skin adnexa physiology	204219	CERS3	ORPHA:79394
HP:0025276	Abnormality of skin adnexa physiology	1474	CST6	OMIM:618535
HP:0025276	Abnormality of skin adnexa physiology	374393	FAM111B	OMIM:615704
HP:0025276	Abnormality of skin adnexa physiology	8517	IKBKG	ORPHA:98813
HP:0025276	Abnormality of skin adnexa physiology	10804	GJB6	ORPHA:477
HP:0025276	Abnormality of skin adnexa physiology	2706	GJB2	ORPHA:477
HP:0025276	Abnormality of skin adnexa physiology	2706	GJB2	OMIM:148210
HP:0025276	Abnormality of skin adnexa physiology	348938	NIPAL4	OMIM:612281
HP:0025276	Abnormality of skin adnexa physiology	348938	NIPAL4	ORPHA:79394
HP:0025276	Abnormality of skin adnexa physiology	126695	KDF1	OMIM:617337
HP:0025276	Abnormality of skin adnexa physiology	126695	KDF1	ORPHA:1810
HP:0025276	Abnormality of skin adnexa physiology	59335	PRDM12	OMIM:616488
HP:0025276	Abnormality of skin adnexa physiology	2312	FLG	ORPHA:461
HP:0025276	Abnormality of skin adnexa physiology	60401	EDA2R	ORPHA:181
HP:0025276	Abnormality of skin adnexa physiology	8567	MADD	OMIM:619004
HP:0025276	Abnormality of skin adnexa physiology	6785	ELOVL4	ORPHA:1955
HP:0025276	Abnormality of skin adnexa physiology	5422	POLA1	OMIM:301220
HP:0025276	Abnormality of skin adnexa physiology	3977	LIFR	ORPHA:3206
HP:0025276	Abnormality of skin adnexa physiology	284111	SLC13A5	ORPHA:1946
HP:0025276	Abnormality of skin adnexa physiology	79641	ROGDI	ORPHA:1946
HP:0025276	Abnormality of skin adnexa physiology	1476	CSTB	ORPHA:248
HP:0025276	Abnormality of skin adnexa physiology	9244	CRLF1	ORPHA:1545
HP:0025276	Abnormality of skin adnexa physiology	6820	SULT2B1	ORPHA:79394
HP:0025276	Abnormality of skin adnexa physiology	26154	ABCA12	ORPHA:79394
HP:0025276	Abnormality of skin adnexa physiology	285848	PNPLA1	ORPHA:79394
HP:0025276	Abnormality of skin adnexa physiology	121214	SDR9C7	ORPHA:79394
HP:0025276	Abnormality of skin adnexa physiology	2260	FGFR1	ORPHA:3157
HP:0025276	Abnormality of skin adnexa physiology	128674	PROKR2	ORPHA:3157
HP:0025276	Abnormality of skin adnexa physiology	6657	SOX2	ORPHA:3157
HP:0025276	Abnormality of skin adnexa physiology	6658	SOX3	ORPHA:3157
HP:0025276	Abnormality of skin adnexa physiology	9915	ARNT2	ORPHA:3157
HP:0025276	Abnormality of skin adnexa physiology	8820	HESX1	ORPHA:3157
HP:0025276	Abnormality of skin adnexa physiology	5015	OTX2	ORPHA:3157
HP:0025276	Abnormality of skin adnexa physiology	2690	GHR	ORPHA:633
HP:0025276	Abnormality of skin adnexa physiology	56916	SMARCAD1	ORPHA:1658
HP:0025276	Abnormality of skin adnexa physiology	7189	TRAF6	ORPHA:1810
HP:0025276	Abnormality of skin adnexa physiology	59344	ALOXE3	OMIM:242100
HP:0025276	Abnormality of skin adnexa physiology	59344	ALOXE3	OMIM:606545
HP:0025276	Abnormality of skin adnexa physiology	242	ALOX12B	OMIM:242100
HP:0025276	Abnormality of skin adnexa physiology	8626	TP63	OMIM:106260
HP:0025276	Abnormality of skin adnexa physiology	5317	PKP1	OMIM:604536
HP:0025276	Abnormality of skin adnexa physiology	2074	ERCC6	OMIM:133540
HP:0025276	Abnormality of skin adnexa physiology	1896	EDA	OMIM:305100
HP:0025276	Abnormality of skin adnexa physiology	9071	CLDN10	OMIM:617671
HP:0025276	Abnormality of skin adnexa physiology	55768	NGLY1	OMIM:615273
HP:0025276	Abnormality of skin adnexa physiology	816	CAMK2B	OMIM:617799
HP:0025276	Abnormality of skin adnexa physiology	2517	FUCA1	OMIM:230000
HP:0025276	Abnormality of skin adnexa physiology	128178	EDARADD	OMIM:614940
HP:0025276	Abnormality of skin adnexa physiology	128178	EDARADD	OMIM:614941
HP:0025276	Abnormality of skin adnexa physiology	128178	EDARADD	OMIM:224900
HP:0025276	Abnormality of skin adnexa physiology	4803	NGF	ORPHA:64752
HP:0025276	Abnormality of skin adnexa physiology	4803	NGF	OMIM:608654
HP:0025276	Abnormality of skin adnexa physiology	4914	NTRK1	ORPHA:64752
HP:0025276	Abnormality of skin adnexa physiology	4914	NTRK1	ORPHA:642
HP:0025276	Abnormality of skin adnexa physiology	4914	NTRK1	OMIM:256800
HP:0025276	Abnormality of skin adnexa physiology	6660	SOX5	ORPHA:626
HP:0025276	Abnormality of skin adnexa physiology	238	ALK	ORPHA:626
HP:0025276	Abnormality of skin adnexa physiology	9839	ZEB2	ORPHA:626
HP:0025276	Abnormality of skin adnexa physiology	4893	NRAS	ORPHA:626
HP:0025276	Abnormality of skin adnexa physiology	673	BRAF	ORPHA:626
HP:0025276	Abnormality of skin adnexa physiology	5894	RAF1	ORPHA:626
HP:0025276	Abnormality of skin adnexa physiology	6261	RYR1	ORPHA:466650
HP:0025276	Abnormality of skin adnexa physiology	27235	COQ2	OMIM:146500
HP:0025276	Abnormality of skin adnexa physiology	10913	EDAR	OMIM:224900
HP:0025276	Abnormality of skin adnexa physiology	5083	PAX9	OMIM:604625
HP:0025276	Abnormality of skin adnexa physiology	3861	KRT14	ORPHA:69087
HP:0025276	Abnormality of skin adnexa physiology	65125	WNK1	OMIM:201300
HP:0025276	Abnormality of skin adnexa physiology	54463	RETREG1	OMIM:201300
HP:0025276	Abnormality of skin adnexa physiology	6335	SCN9A	OMIM:201300
HP:0025276	Abnormality of skin adnexa physiology	6335	SCN9A	OMIM:243000
HP:0025276	Abnormality of skin adnexa physiology	547	KIF1A	OMIM:201300
HP:0025276	Abnormality of skin adnexa physiology	617	BCS1L	OMIM:262000
HP:0025276	Abnormality of skin adnexa physiology	9517	SPTLC2	OMIM:613640
HP:0025276	Abnormality of skin adnexa physiology	64065	PERP	OMIM:619209
HP:0025276	Abnormality of skin adnexa physiology	64065	PERP	ORPHA:659
HP:0025276	Abnormality of skin adnexa physiology	4792	NFKBIA	OMIM:612132
HP:0025276	Abnormality of skin adnexa physiology	51360	MBTPS2	ORPHA:659
HP:0025276	Abnormality of skin adnexa physiology	162514	TRPV3	ORPHA:659
HP:0025276	Abnormality of skin adnexa physiology	91039	DPP9	OMIM:620331
HP:0025276	Abnormality of skin adnexa physiology	1161	ERCC8	OMIM:216400
HP:0025276	Abnormality of skin adnexa physiology	80216	ALPK1	OMIM:614979
HP:0025276	Abnormality of skin adnexa physiology	4001	LMNB1	ORPHA:99027
HP:0025276	Abnormality of skin adnexa physiology	26191	PTPN22	ORPHA:397
HP:0025276	Abnormality of skin adnexa physiology	3106	HLA-B	ORPHA:397
HP:0025276	Abnormality of skin adnexa physiology	3123	HLA-DRB1	ORPHA:397
HP:0025276	Abnormality of skin adnexa physiology	3123	HLA-DRB1	ORPHA:2073
HP:0025276	Abnormality of skin adnexa physiology	8974	P4HA2	ORPHA:397
HP:0025276	Abnormality of skin adnexa physiology	4352	MPL	ORPHA:71493
HP:0025276	Abnormality of skin adnexa physiology	7066	THPO	ORPHA:71493
HP:0025276	Abnormality of skin adnexa physiology	3717	JAK2	ORPHA:71493
HP:0025276	Abnormality of skin adnexa physiology	23769	FLRT1	ORPHA:320406
HP:0025276	Abnormality of skin adnexa physiology	64837	KLC2	ORPHA:320406
HP:0025276	Abnormality of skin adnexa physiology	64837	KLC2	OMIM:609541
HP:0025276	Abnormality of skin adnexa physiology	1291	COL6A1	OMIM:254090
HP:0025276	Abnormality of skin adnexa physiology	3094	HINT1	ORPHA:324442
HP:0025276	Abnormality of skin adnexa physiology	3094	HINT1	OMIM:137200
HP:0025276	Abnormality of skin adnexa physiology	6390	SDHB	OMIM:115310
HP:0025276	Abnormality of skin adnexa physiology	23516	SLC39A14	OMIM:617013
HP:0025276	Abnormality of skin adnexa physiology	55654	TMEM127	OMIM:171300
HP:0025276	Abnormality of skin adnexa physiology	4149	MAX	OMIM:171300
HP:0025276	Abnormality of skin adnexa physiology	5979	RET	OMIM:171300
HP:0025276	Abnormality of skin adnexa physiology	7428	VHL	OMIM:171300
HP:0025276	Abnormality of skin adnexa physiology	7428	VHL	ORPHA:892
HP:0025276	Abnormality of skin adnexa physiology	1736	DKC1	OMIM:305000
HP:0025276	Abnormality of skin adnexa physiology	1736	DKC1	ORPHA:1775
HP:0025276	Abnormality of skin adnexa physiology	9881	TRANK1	ORPHA:33543
HP:0025276	Abnormality of skin adnexa physiology	6571	SLC18A2	ORPHA:352649
HP:0025276	Abnormality of skin adnexa physiology	6571	SLC18A2	OMIM:618049
HP:0025276	Abnormality of skin adnexa physiology	362	AQP5	ORPHA:2337
HP:0025276	Abnormality of skin adnexa physiology	3190	HNRNPK	ORPHA:453504
HP:0025276	Abnormality of skin adnexa physiology	3190	HNRNPK	ORPHA:352665
HP:0025276	Abnormality of skin adnexa physiology	1308	COL17A1	ORPHA:79406
HP:0025276	Abnormality of skin adnexa physiology	3481	IGF2	ORPHA:231140
HP:0025276	Abnormality of skin adnexa physiology	283120	H19	ORPHA:231140
HP:0025276	Abnormality of skin adnexa physiology	3728	JUP	ORPHA:34217
HP:0025276	Abnormality of skin adnexa physiology	1644	DDC	ORPHA:35708
HP:0025276	Abnormality of skin adnexa physiology	1644	DDC	OMIM:608643
HP:0025276	Abnormality of skin adnexa physiology	3248	HPGD	ORPHA:217059
HP:0025276	Abnormality of skin adnexa physiology	3248	HPGD	ORPHA:2796
HP:0025276	Abnormality of skin adnexa physiology	3248	HPGD	OMIM:259100
HP:0025276	Abnormality of skin adnexa physiology	3736	KCNA1	ORPHA:37612
HP:0025276	Abnormality of skin adnexa physiology	3508	IGHMBP2	OMIM:604320
HP:0025276	Abnormality of skin adnexa physiology	6391	SDHC	OMIM:605373
HP:0025276	Abnormality of skin adnexa physiology	1185	CLCN6	OMIM:619173
HP:0025276	Abnormality of skin adnexa physiology	2263	FGFR2	ORPHA:87
HP:0025276	Abnormality of skin adnexa physiology	2263	FGFR2	OMIM:101200
HP:0025276	Abnormality of skin adnexa physiology	9630	GNA14	ORPHA:1063
HP:0025276	Abnormality of skin adnexa physiology	8929	PHOX2B	ORPHA:2151
HP:0025276	Abnormality of skin adnexa physiology	8929	PHOX2B	OMIM:209880
HP:0025276	Abnormality of skin adnexa physiology	114548	NLRP3	ORPHA:47045
HP:0025276	Abnormality of skin adnexa physiology	6578	SLCO2A1	OMIM:614441
HP:0025276	Abnormality of skin adnexa physiology	6578	SLCO2A1	ORPHA:2796
HP:0025276	Abnormality of skin adnexa physiology	6578	SLCO2A1	OMIM:167100
HP:0025276	Abnormality of skin adnexa physiology	80204	FBXO11	OMIM:618089
HP:0025276	Abnormality of skin adnexa physiology	7555	CNBP	ORPHA:606
HP:0025276	Abnormality of skin adnexa physiology	83550	GPR101	ORPHA:963
HP:0025276	Abnormality of skin adnexa physiology	83550	GPR101	OMIM:300942
HP:0025276	Abnormality of skin adnexa physiology	9049	AIP	ORPHA:963
HP:0025276	Abnormality of skin adnexa physiology	9049	AIP	ORPHA:99725
HP:0025276	Abnormality of skin adnexa physiology	3852	KRT5	ORPHA:79400
HP:0025276	Abnormality of skin adnexa physiology	5621	PRNP	OMIM:600072
HP:0025276	Abnormality of skin adnexa physiology	5621	PRNP	ORPHA:466
HP:0025276	Abnormality of skin adnexa physiology	1828	DSG1	OMIM:148700
HP:0025276	Abnormality of skin adnexa physiology	84133	ZNRF3	ORPHA:1501
HP:0025276	Abnormality of skin adnexa physiology	7157	TP53	ORPHA:1501
HP:0025276	Abnormality of skin adnexa physiology	5573	PRKAR1A	ORPHA:1501
HP:0025276	Abnormality of skin adnexa physiology	1499	CTNNB1	ORPHA:1501
HP:0025276	Abnormality of skin adnexa physiology	1029	CDKN2A	ORPHA:1501
HP:0025276	Abnormality of skin adnexa physiology	7015	TERT	ORPHA:1501
HP:0025276	Abnormality of skin adnexa physiology	7015	TERT	ORPHA:1775
HP:0025276	Abnormality of skin adnexa physiology	6898	TAT	ORPHA:28378
HP:0025276	Abnormality of skin adnexa physiology	8802	SUCLG1	OMIM:245400
HP:0025276	Abnormality of skin adnexa physiology	8802	SUCLG1	ORPHA:17
HP:0025276	Abnormality of skin adnexa physiology	3172	HNF4A	ORPHA:263455
HP:0025276	Abnormality of skin adnexa physiology	1508	CTSB	ORPHA:50943
HP:0025276	Abnormality of skin adnexa physiology	64072	CDH23	ORPHA:91347
HP:0025276	Abnormality of skin adnexa physiology	388962	BOLA3	OMIM:614299
HP:0025276	Abnormality of skin adnexa physiology	11280	SCN11A	OMIM:615548
HP:0025276	Abnormality of skin adnexa physiology	200734	SPRED2	OMIM:619745
HP:0025276	Abnormality of skin adnexa physiology	6392	SDHD	OMIM:168000
HP:0025276	Abnormality of skin adnexa physiology	330	BIRC3	ORPHA:52417
HP:0025276	Abnormality of skin adnexa physiology	10892	MALT1	ORPHA:52417
HP:0025276	Abnormality of skin adnexa physiology	27086	FOXP1	ORPHA:52417
HP:0025276	Abnormality of skin adnexa physiology	3492	IGH	ORPHA:52417
HP:0025276	Abnormality of skin adnexa physiology	8915	BCL10	ORPHA:52417
HP:0025276	Abnormality of skin adnexa physiology	1001	CDH3	OMIM:225280
HP:0025276	Abnormality of skin adnexa physiology	5604	MAP2K1	OMIM:615279
HP:0025276	Abnormality of skin adnexa physiology	8710	SERPINB7	ORPHA:140966
HP:0025276	Abnormality of skin adnexa physiology	773	CACNA1A	ORPHA:2131
HP:0025276	Abnormality of skin adnexa physiology	6507	SLC1A3	ORPHA:2131
HP:0025276	Abnormality of skin adnexa physiology	477	ATP1A2	ORPHA:2131
HP:0025276	Abnormality of skin adnexa physiology	478	ATP1A3	ORPHA:2131
HP:0025276	Abnormality of skin adnexa physiology	4221	MEN1	ORPHA:97279
HP:0025276	Abnormality of skin adnexa physiology	4221	MEN1	ORPHA:99725
HP:0025276	Abnormality of skin adnexa physiology	7528	YY1	ORPHA:97279
HP:0025276	Abnormality of skin adnexa physiology	100134444	KCNJ18	ORPHA:79102
HP:0025276	Abnormality of skin adnexa physiology	2556	GABRA3	ORPHA:79102
HP:0025276	Abnormality of skin adnexa physiology	779	CACNA1S	ORPHA:79102
HP:0025276	Abnormality of skin adnexa physiology	6697	SPR	ORPHA:70594
HP:0025276	Abnormality of skin adnexa physiology	2887	GRB10	ORPHA:96182
HP:0025276	Abnormality of skin adnexa physiology	5605	MAP2K2	OMIM:615280
HP:0025276	Abnormality of skin adnexa physiology	57152	SLURP1	ORPHA:87503
HP:0025276	Abnormality of skin adnexa physiology	57152	SLURP1	OMIM:248300
HP:0025276	Abnormality of skin adnexa physiology	9373	PLAA	ORPHA:521426
HP:0025276	Abnormality of skin adnexa physiology	10161	LPAR6	OMIM:278150
HP:0025276	Abnormality of skin adnexa physiology	8450	CUL4B	ORPHA:85293
HP:0025276	Abnormality of skin adnexa physiology	55164	SHQ1	OMIM:619922
HP:0025276	Abnormality of skin adnexa physiology	3853	KRT6A	OMIM:615726
HP:0025276	Abnormality of skin adnexa physiology	595	CCND1	ORPHA:892
HP:0025276	Abnormality of skin adnexa physiology	1512	CTSH	ORPHA:2073
HP:0025276	Abnormality of skin adnexa physiology	5032	P2RY11	ORPHA:2073
HP:0025276	Abnormality of skin adnexa physiology	4340	MOG	ORPHA:2073
HP:0025276	Abnormality of skin adnexa physiology	3119	HLA-DQB1	ORPHA:2073
HP:0025276	Abnormality of skin adnexa physiology	3060	HCRT	ORPHA:2073
HP:0025276	Abnormality of skin adnexa physiology	22891	ZNF365	ORPHA:2073
HP:0025276	Abnormality of skin adnexa physiology	7292	TNFSF4	ORPHA:2073
HP:0025276	Abnormality of skin adnexa physiology	3868	KRT16	ORPHA:2199
HP:0025276	Abnormality of skin adnexa physiology	3857	KRT9	ORPHA:2199
HP:0025276	Abnormality of skin adnexa physiology	3848	KRT1	ORPHA:2199
HP:0025276	Abnormality of skin adnexa physiology	3265	HRAS	ORPHA:2874
HP:0025276	Abnormality of skin adnexa physiology	8803	SUCLA2	OMIM:612073
HP:0025276	Abnormality of skin adnexa physiology	667	DST	OMIM:614653
HP:0025276	Abnormality of skin adnexa physiology	80169	CTC1	ORPHA:1775
HP:0025276	Abnormality of skin adnexa physiology	26277	TINF2	ORPHA:1775
HP:0025276	Abnormality of skin adnexa physiology	55651	NHP2	ORPHA:1775
HP:0025276	Abnormality of skin adnexa physiology	79650	USB1	ORPHA:1775
HP:0025276	Abnormality of skin adnexa physiology	55135	WRAP53	ORPHA:1775
HP:0025276	Abnormality of skin adnexa physiology	51750	RTEL1	ORPHA:1775
HP:0025276	Abnormality of skin adnexa physiology	4869	NPM1	ORPHA:1775
HP:0025276	Abnormality of skin adnexa physiology	7012	TERC	ORPHA:1775
HP:0025276	Abnormality of skin adnexa physiology	55505	NOP10	ORPHA:1775
HP:0025276	Abnormality of skin adnexa physiology	5073	PARN	ORPHA:1775
HP:0025276	Abnormality of skin adnexa physiology	7298	TYMS	ORPHA:1775
HP:0025276	Abnormality of skin adnexa physiology	3145	HMBS	ORPHA:79276
HP:0025276	Abnormality of skin adnexa physiology	1188	CLCNKB	ORPHA:358
HP:0025276	Abnormality of skin adnexa physiology	6559	SLC12A3	ORPHA:358
HP:0025276	Abnormality of skin adnexa physiology	3767	KCNJ11	ORPHA:276580
HP:0025276	Abnormality of skin adnexa physiology	1743	DLST	ORPHA:29072
HP:0025276	Abnormality of skin adnexa physiology	4191	MDH2	ORPHA:29072
HP:0025276	Abnormality of skin adnexa physiology	6389	SDHA	ORPHA:29072
HP:0025276	Abnormality of skin adnexa physiology	23095	KIF1B	ORPHA:29072
HP:0025276	Abnormality of skin adnexa physiology	2271	FH	ORPHA:29072
HP:0025276	Abnormality of skin adnexa physiology	8402	SLC25A11	ORPHA:29072
HP:0025276	Abnormality of skin adnexa physiology	54949	SDHAF2	ORPHA:29072
HP:0025276	Abnormality of skin adnexa physiology	4763	NF1	ORPHA:29072
HP:0025276	Abnormality of skin adnexa physiology	7351	UCP2	ORPHA:276556
HP:0025276	Abnormality of skin adnexa physiology	1788	DNMT3A	ORPHA:276621
HP:0025276	Abnormality of skin adnexa physiology	2034	EPAS1	ORPHA:276621
HP:0025276	Abnormality of skin adnexa physiology	6927	HNF1A	ORPHA:324575
HP:0025276	Abnormality of skin adnexa physiology	6833	ABCC8	ORPHA:276575
HP:0025276	Abnormality of skin adnexa physiology	229	ALDOB	ORPHA:469
HP:0025276	Abnormality of skin adnexa physiology	170689	ADAMTS15	OMIM:620545
HP:0025276	Abnormality of skin adnexa physiology	3914	LAMB3	OMIM:226650
HP:0025276	Abnormality of skin adnexa physiology	1080	CFTR	ORPHA:498359
HP:0025276	Abnormality of skin adnexa physiology	3872	KRT17	OMIM:167210
HP:0025276	Abnormality of skin adnexa physiology	3872	KRT17	ORPHA:2309
HP:0025276	Abnormality of skin adnexa physiology	284654	RSPO1	OMIM:610644
HP:0025276	Abnormality of skin adnexa physiology	3854	KRT6B	ORPHA:2309
HP:0025276	Abnormality of skin adnexa physiology	3709	ITPR2	OMIM:106190
HP:0025276	Abnormality of skin adnexa physiology	1041	CDSN	ORPHA:90368
HP:0025276	Abnormality of skin adnexa physiology	121391	KRT74	ORPHA:90368
HP:0025276	Abnormality of skin adnexa physiology	10558	SPTLC1	ORPHA:36386
HP:0025276	Abnormality of skin adnexa physiology	25923	ATL3	ORPHA:36386
HP:0025276	Abnormality of skin adnexa physiology	51062	ATL1	ORPHA:36386
HP:0025276	Abnormality of skin adnexa physiology	23529	CLCF1	OMIM:610313
HP:0025276	Abnormality of skin adnexa physiology	55975	KLHL7	OMIM:617055
HP:0025278	Cold-induced sweating	23529	CLCF1	OMIM:610313
HP:0025278	Cold-induced sweating	55975	KLHL7	OMIM:617055
HP:0030532	Visual acuity test abnormality	8314	BAP1	ORPHA:2495
HP:0030532	Visual acuity test abnormality	4771	NF2	ORPHA:2495
HP:0030532	Visual acuity test abnormality	6598	SMARCB1	ORPHA:2495
HP:0030532	Visual acuity test abnormality	5155	PDGFB	ORPHA:2495
HP:0030532	Visual acuity test abnormality	84231	TRAF7	ORPHA:2495
HP:0030532	Visual acuity test abnormality	6608	SMO	ORPHA:2495
HP:0030532	Visual acuity test abnormality	207	AKT1	ORPHA:2495
HP:0030532	Visual acuity test abnormality	5290	PIK3CA	ORPHA:2495
HP:0030532	Visual acuity test abnormality	7015	TERT	ORPHA:2495
HP:0030532	Visual acuity test abnormality	51684	SUFU	ORPHA:2495
HP:0030532	Visual acuity test abnormality	6605	SMARCE1	ORPHA:2495
HP:0030532	Visual acuity test abnormality	5456	POU3F4	ORPHA:1435
HP:0030532	Visual acuity test abnormality	10381	TUBB3	ORPHA:300570
HP:0030532	Visual acuity test abnormality	10381	TUBB3	ORPHA:45358
HP:0030532	Visual acuity test abnormality	55605	KIF21A	ORPHA:45358
HP:0030532	Visual acuity test abnormality	347733	TUBB2B	ORPHA:45358
HP:0030532	Visual acuity test abnormality	7846	TUBA1A	ORPHA:45358
HP:0030532	Visual acuity test abnormality	401	PHOX2A	ORPHA:45358
HP:0030532	Visual acuity test abnormality	84570	COL25A1	ORPHA:45358
HP:0030532	Visual acuity test abnormality	114902	C1QTNF5	ORPHA:67042
HP:0030532	Visual acuity test abnormality	4041	LRP5	ORPHA:2788
HP:0030532	Visual acuity test abnormality	324	APC	ORPHA:99818
HP:0030532	Visual acuity test abnormality	57096	RPGRIP1	OMIM:613826
HP:0030532	Visual acuity test abnormality	9785	DHX38	OMIM:618220
HP:0030530	Arcuate scotoma	3105	HLA-A	ORPHA:179
HP:0025285	Aggravated by	2022	ENG	OMIM:187300
HP:0025289	Cervical lymphadenopathy	55315	SLC29A3	OMIM:602782
HP:0025289	Cervical lymphadenopathy	3162	HMOX1	OMIM:614034
HP:0025289	Cervical lymphadenopathy	50619	DEF6	OMIM:619573
HP:0025289	Cervical lymphadenopathy	4688	NCF2	OMIM:233710
HP:0025289	Cervical lymphadenopathy	10125	RASGRP1	OMIM:618534
HP:0025289	Cervical lymphadenopathy	7132	TNFRSF1A	OMIM:142680
HP:0025289	Cervical lymphadenopathy	5335	PLCG1	OMIM:620514
HP:0025289	Cervical lymphadenopathy	5880	RAC2	OMIM:618987
HP:0025289	Cervical lymphadenopathy	10095	ARPC1B	OMIM:617718
HP:0025289	Cervical lymphadenopathy	1991	ELANE	ORPHA:2686
HP:0030553	Visual acuity no light perception	324	APC	ORPHA:99818
HP:0030553	Visual acuity no light perception	57096	RPGRIP1	OMIM:613826
HP:0030553	Visual acuity no light perception	9785	DHX38	OMIM:618220
HP:0030551	Visual acuity light perception with projection	4041	LRP5	ORPHA:2788
HP:0009486	Radial deviation of the hand	54809	SAMD9	OMIM:617053
HP:0009486	Radial deviation of the hand	2737	GLI3	ORPHA:93322
HP:0009486	Radial deviation of the hand	1297	COL9A1	ORPHA:166002
HP:0009486	Radial deviation of the hand	1298	COL9A2	ORPHA:166002
HP:0009486	Radial deviation of the hand	1299	COL9A3	ORPHA:166002
HP:0009486	Radial deviation of the hand	6910	TBX5	OMIM:142900
HP:0009486	Radial deviation of the hand	9401	RECQL4	OMIM:218600
HP:0009486	Radial deviation of the hand	55906	ZC4H2	OMIM:301041
HP:0009486	Radial deviation of the hand	633	BGN	OMIM:300106
HP:0009486	Radial deviation of the hand	9939	RBM8A	OMIM:274000
HP:0009486	Radial deviation of the hand	57167	SALL4	OMIM:607323
HP:0009486	Radial deviation of the hand	9775	EIF4A3	OMIM:268305
HP:0001204	Distal symphalangism of hands	3549	IHH	OMIM:112500
HP:0001204	Distal symphalangism of hands	3549	IHH	ORPHA:93388
HP:0001204	Distal symphalangism of hands	9241	NOG	OMIM:611377
HP:0001204	Distal symphalangism of hands	9241	NOG	OMIM:186570
HP:0001204	Distal symphalangism of hands	9241	NOG	OMIM:185800
HP:0001204	Distal symphalangism of hands	8200	GDF5	ORPHA:93388
HP:0001204	Distal symphalangism of hands	658	BMPR1B	ORPHA:93388
HP:0001204	Distal symphalangism of hands	7021	TFAP2B	OMIM:169100
HP:0001204	Distal symphalangism of hands	10262	SF3B4	OMIM:154400
HP:0001204	Distal symphalangism of hands	9898	UBAP2L	OMIM:620494
HP:0001498	Carpal bone hypoplasia	1311	COMP	OMIM:177170
HP:0001498	Carpal bone hypoplasia	54808	DYM	OMIM:223800
HP:0001498	Carpal bone hypoplasia	59341	TRPV4	OMIM:184252
HP:0001498	Carpal bone hypoplasia	59341	TRPV4	ORPHA:93314
HP:0001498	Carpal bone hypoplasia	3835	KIF22	OMIM:603546
HP:0001498	Carpal bone hypoplasia	9451	EIF2AK3	OMIM:226980
HP:0001498	Carpal bone hypoplasia	23233	EXOC6B	OMIM:618395
HP:0001498	Carpal bone hypoplasia	89970	RSPRY1	ORPHA:457395
HP:0001498	Carpal bone hypoplasia	89970	RSPRY1	OMIM:616723
HP:0001498	Carpal bone hypoplasia	57167	SALL4	OMIM:147750
HP:0001498	Carpal bone hypoplasia	54187	NANS	OMIM:610442
HP:0001498	Carpal bone hypoplasia	79158	GNPTAB	OMIM:252600
HP:0001498	Carpal bone hypoplasia	79158	GNPTAB	OMIM:252500
HP:0001498	Carpal bone hypoplasia	9939	RBM8A	OMIM:274000
HP:0001498	Carpal bone hypoplasia	5832	ALDH18A1	OMIM:601162
HP:0010234	Ivory epiphyses of the phalanges of the hand	2074	ERCC6	OMIM:133540
HP:0010234	Ivory epiphyses of the phalanges of the hand	1161	ERCC8	OMIM:216400
HP:0010234	Ivory epiphyses of the phalanges of the hand	4796	TONSL	ORPHA:93357
HP:0010234	Ivory epiphyses of the phalanges of the hand	9451	EIF2AK3	OMIM:226980
HP:0010234	Ivory epiphyses of the phalanges of the hand	7227	TRPS1	OMIM:190350
HP:0010234	Ivory epiphyses of the phalanges of the hand	10847	SRCAP	OMIM:136140
HP:0001211	Abnormal fingertip morphology	5745	PTH1R	ORPHA:79106
HP:0001211	Abnormal fingertip morphology	3909	LAMA3	ORPHA:79404
HP:0001211	Abnormal fingertip morphology	3918	LAMC2	ORPHA:79404
HP:0001211	Abnormal fingertip morphology	3914	LAMB3	ORPHA:79404
HP:0001211	Abnormal fingertip morphology	1105	CHD1	ORPHA:529965
HP:0001211	Abnormal fingertip morphology	10269	ZMPSTE24	ORPHA:90154
HP:0001211	Abnormal fingertip morphology	8367	H4C5	OMIM:619950
HP:0001211	Abnormal fingertip morphology	10664	CTCF	ORPHA:363611
HP:0001211	Abnormal fingertip morphology	10664	CTCF	OMIM:615502
HP:0001211	Abnormal fingertip morphology	54880	BCOR	OMIM:309800
HP:0001211	Abnormal fingertip morphology	8260	NAA10	OMIM:309800
HP:0001211	Abnormal fingertip morphology	9853	RUSC2	OMIM:617773
HP:0001211	Abnormal fingertip morphology	5063	PAK3	OMIM:300558
HP:0001211	Abnormal fingertip morphology	2033	EP300	OMIM:180849
HP:0001211	Abnormal fingertip morphology	2033	EP300	OMIM:613684
HP:0001211	Abnormal fingertip morphology	1387	CREBBP	OMIM:180849
HP:0001211	Abnormal fingertip morphology	23394	ADNP	OMIM:615873
HP:0001211	Abnormal fingertip morphology	6228	RPS23	OMIM:617412
HP:0001211	Abnormal fingertip morphology	55628	ZNF407	OMIM:619557
HP:0001211	Abnormal fingertip morphology	91461	PKDCC	OMIM:618821
HP:0001211	Abnormal fingertip morphology	11133	KPTN	OMIM:615637
HP:0001211	Abnormal fingertip morphology	253738	EBF3	ORPHA:96148
HP:0001211	Abnormal fingertip morphology	4076	CAPRIN1	OMIM:620782
HP:0001211	Abnormal fingertip morphology	93986	FOXP2	ORPHA:251061
HP:0001211	Abnormal fingertip morphology	55343	SLC35C1	OMIM:266265
HP:0001211	Abnormal fingertip morphology	79718	TBL1XR1	OMIM:602342
HP:0001211	Abnormal fingertip morphology	79718	TBL1XR1	ORPHA:487825
HP:0001211	Abnormal fingertip morphology	284058	KANSL1	ORPHA:363965
HP:0001211	Abnormal fingertip morphology	284058	KANSL1	ORPHA:363958
HP:0001211	Abnormal fingertip morphology	284058	KANSL1	OMIM:610443
HP:0001211	Abnormal fingertip morphology	116931	MED12L	OMIM:618872
HP:0001211	Abnormal fingertip morphology	27086	FOXP1	ORPHA:391372
HP:0001211	Abnormal fingertip morphology	3021	H3-3B	OMIM:619721
HP:0001211	Abnormal fingertip morphology	28952	CCDC22	OMIM:300963
HP:0001211	Abnormal fingertip morphology	83479	DDX59	OMIM:174300
HP:0001211	Abnormal fingertip morphology	8085	KMT2D	ORPHA:2322
HP:0001211	Abnormal fingertip morphology	8085	KMT2D	OMIM:147920
HP:0001211	Abnormal fingertip morphology	7403	KDM6A	ORPHA:2322
HP:0001211	Abnormal fingertip morphology	7403	KDM6A	OMIM:300867
HP:0001211	Abnormal fingertip morphology	7403	KDM6A	OMIM:147920
HP:0001211	Abnormal fingertip morphology	7025	NR2F1	OMIM:615722
HP:0001211	Abnormal fingertip morphology	9968	MED12	OMIM:305450
HP:0001211	Abnormal fingertip morphology	6925	TCF4	OMIM:610954
HP:0001211	Abnormal fingertip morphology	23065	EMC1	ORPHA:480898
HP:0001211	Abnormal fingertip morphology	23065	EMC1	OMIM:616875
HP:0001211	Abnormal fingertip morphology	4131	MAP1B	OMIM:618918
HP:0001211	Abnormal fingertip morphology	4784	NFIX	OMIM:602535
HP:0001211	Abnormal fingertip morphology	57492	ARID1B	OMIM:135900
HP:0001211	Abnormal fingertip morphology	57479	PRR12	OMIM:619539
HP:0001211	Abnormal fingertip morphology	64359	NXN	OMIM:618529
HP:0001211	Abnormal fingertip morphology	2146	EZH2	OMIM:277590
HP:0001211	Abnormal fingertip morphology	51322	WAC	ORPHA:466950
HP:0001211	Abnormal fingertip morphology	1822	ATN1	OMIM:618494
HP:0001211	Abnormal fingertip morphology	23036	ZNF292	OMIM:619188
HP:0001211	Abnormal fingertip morphology	3188	HNRNPH2	OMIM:300986
HP:0001211	Abnormal fingertip morphology	2703	GJA8	OMIM:612474
HP:0001211	Abnormal fingertip morphology	2702	GJA5	OMIM:612474
HP:0001211	Abnormal fingertip morphology	22907	DHX30	OMIM:617804
HP:0001211	Abnormal fingertip morphology	8216	LZTR1	OMIM:605275
HP:0001211	Abnormal fingertip morphology	10522	DEAF1	OMIM:615828
HP:0001211	Abnormal fingertip morphology	3720	JARID2	OMIM:620098
HP:0001211	Abnormal fingertip morphology	3248	HPGD	ORPHA:217059
HP:0001211	Abnormal fingertip morphology	10847	SRCAP	ORPHA:2044
HP:0001211	Abnormal fingertip morphology	10847	SRCAP	OMIM:136140
HP:0001211	Abnormal fingertip morphology	25782	RAB3GAP2	OMIM:212720
HP:0001211	Abnormal fingertip morphology	3187	HNRNPH1	OMIM:620083
HP:0001211	Abnormal fingertip morphology	1080	CFTR	OMIM:219700
HP:0001211	Abnormal fingertip morphology	2212	FCGR2A	OMIM:219700
HP:0001211	Abnormal fingertip morphology	7040	TGFB1	OMIM:219700
HP:0001211	Abnormal fingertip morphology	3071	NCKAP1L	OMIM:618982
HP:0001211	Abnormal fingertip morphology	114548	NLRP3	OMIM:191900
HP:0001211	Abnormal fingertip morphology	182	JAG1	OMIM:619574
HP:0001211	Abnormal fingertip morphology	7015	TERT	OMIM:614742
HP:0001211	Abnormal fingertip morphology	7015	TERT	ORPHA:2032
HP:0001211	Abnormal fingertip morphology	7015	TERT	OMIM:178500
HP:0001211	Abnormal fingertip morphology	6794	STK11	OMIM:175200
HP:0001211	Abnormal fingertip morphology	987	LRBA	OMIM:614700
HP:0001211	Abnormal fingertip morphology	6578	SLCO2A1	OMIM:167100
HP:0001211	Abnormal fingertip morphology	6440	SFTPC	ORPHA:2032
HP:0001211	Abnormal fingertip morphology	6440	SFTPC	OMIM:178500
HP:0001211	Abnormal fingertip morphology	729238	SFTPA2	ORPHA:2032
HP:0001211	Abnormal fingertip morphology	729238	SFTPA2	OMIM:178500
HP:0001211	Abnormal fingertip morphology	79991	STN1	ORPHA:2032
HP:0001211	Abnormal fingertip morphology	653509	SFTPA1	ORPHA:2032
HP:0001211	Abnormal fingertip morphology	21	ABCA3	ORPHA:2032
HP:0001211	Abnormal fingertip morphology	1832	DSP	ORPHA:2032
HP:0001211	Abnormal fingertip morphology	1832	DSP	OMIM:605676
HP:0001211	Abnormal fingertip morphology	727897	MUC5B	ORPHA:2032
HP:0001211	Abnormal fingertip morphology	727897	MUC5B	OMIM:178500
HP:0001211	Abnormal fingertip morphology	10144	FAM13A	ORPHA:2032
HP:0001211	Abnormal fingertip morphology	23250	ATP11A	ORPHA:2032
HP:0001211	Abnormal fingertip morphology	91039	DPP9	ORPHA:2032
HP:0001211	Abnormal fingertip morphology	51750	RTEL1	ORPHA:2032
HP:0001211	Abnormal fingertip morphology	7012	TERC	ORPHA:2032
HP:0001211	Abnormal fingertip morphology	5073	PARN	ORPHA:2032
HP:0001211	Abnormal fingertip morphology	3339	HSPG2	ORPHA:1865
HP:0001211	Abnormal fingertip morphology	10804	GJB6	ORPHA:189
HP:0001211	Abnormal fingertip morphology	440275	EIF2AK4	ORPHA:199241
HP:0001211	Abnormal fingertip morphology	1604	CD55	OMIM:226300
HP:0001211	Abnormal fingertip morphology	10568	SLC34A2	ORPHA:60025
HP:0001211	Abnormal fingertip morphology	8884	SLC5A6	OMIM:618973
HP:0001211	Abnormal fingertip morphology	10125	RASGRP1	OMIM:618534
HP:0001211	Abnormal fingertip morphology	59067	IL21	OMIM:615767
HP:0001211	Abnormal fingertip morphology	5728	PTEN	ORPHA:79076
HP:0001211	Abnormal fingertip morphology	657	BMPR1A	ORPHA:79076
HP:0001211	Abnormal fingertip morphology	5696	PSMB8	OMIM:256040
HP:0001211	Abnormal fingertip morphology	27152	INTU	OMIM:617926
HP:0001211	Abnormal fingertip morphology	7092	TLL1	ORPHA:99106
HP:0001212	Prominent fingertip pads	8367	H4C5	OMIM:619950
HP:0001212	Prominent fingertip pads	10664	CTCF	ORPHA:363611
HP:0001212	Prominent fingertip pads	10664	CTCF	OMIM:615502
HP:0001212	Prominent fingertip pads	54880	BCOR	OMIM:309800
HP:0001212	Prominent fingertip pads	8260	NAA10	OMIM:309800
HP:0001212	Prominent fingertip pads	9853	RUSC2	OMIM:617773
HP:0001212	Prominent fingertip pads	5063	PAK3	OMIM:300558
HP:0001212	Prominent fingertip pads	2033	EP300	OMIM:180849
HP:0001212	Prominent fingertip pads	2033	EP300	OMIM:613684
HP:0001212	Prominent fingertip pads	1387	CREBBP	OMIM:180849
HP:0001212	Prominent fingertip pads	23394	ADNP	OMIM:615873
HP:0001212	Prominent fingertip pads	6228	RPS23	OMIM:617412
HP:0001212	Prominent fingertip pads	55628	ZNF407	OMIM:619557
HP:0001212	Prominent fingertip pads	91461	PKDCC	OMIM:618821
HP:0001212	Prominent fingertip pads	11133	KPTN	OMIM:615637
HP:0001212	Prominent fingertip pads	253738	EBF3	ORPHA:96148
HP:0001212	Prominent fingertip pads	4076	CAPRIN1	OMIM:620782
HP:0001212	Prominent fingertip pads	93986	FOXP2	ORPHA:251061
HP:0001212	Prominent fingertip pads	55343	SLC35C1	OMIM:266265
HP:0001212	Prominent fingertip pads	79718	TBL1XR1	OMIM:602342
HP:0001212	Prominent fingertip pads	79718	TBL1XR1	ORPHA:487825
HP:0001212	Prominent fingertip pads	284058	KANSL1	ORPHA:363965
HP:0001212	Prominent fingertip pads	284058	KANSL1	ORPHA:363958
HP:0001212	Prominent fingertip pads	284058	KANSL1	OMIM:610443
HP:0001212	Prominent fingertip pads	116931	MED12L	OMIM:618872
HP:0001212	Prominent fingertip pads	27086	FOXP1	ORPHA:391372
HP:0001212	Prominent fingertip pads	3021	H3-3B	OMIM:619721
HP:0001212	Prominent fingertip pads	28952	CCDC22	OMIM:300963
HP:0001212	Prominent fingertip pads	83479	DDX59	OMIM:174300
HP:0001212	Prominent fingertip pads	8085	KMT2D	ORPHA:2322
HP:0001212	Prominent fingertip pads	8085	KMT2D	OMIM:147920
HP:0001212	Prominent fingertip pads	7403	KDM6A	ORPHA:2322
HP:0001212	Prominent fingertip pads	7403	KDM6A	OMIM:300867
HP:0001212	Prominent fingertip pads	7403	KDM6A	OMIM:147920
HP:0001212	Prominent fingertip pads	7025	NR2F1	OMIM:615722
HP:0001212	Prominent fingertip pads	9968	MED12	OMIM:305450
HP:0001212	Prominent fingertip pads	6925	TCF4	OMIM:610954
HP:0001212	Prominent fingertip pads	23065	EMC1	ORPHA:480898
HP:0001212	Prominent fingertip pads	23065	EMC1	OMIM:616875
HP:0001212	Prominent fingertip pads	4131	MAP1B	OMIM:618918
HP:0001212	Prominent fingertip pads	4784	NFIX	OMIM:602535
HP:0001212	Prominent fingertip pads	57492	ARID1B	OMIM:135900
HP:0001212	Prominent fingertip pads	57479	PRR12	OMIM:619539
HP:0001212	Prominent fingertip pads	64359	NXN	OMIM:618529
HP:0001212	Prominent fingertip pads	2146	EZH2	OMIM:277590
HP:0001212	Prominent fingertip pads	51322	WAC	ORPHA:466950
HP:0001212	Prominent fingertip pads	1105	CHD1	OMIM:617682
HP:0001212	Prominent fingertip pads	1822	ATN1	OMIM:618494
HP:0001212	Prominent fingertip pads	23036	ZNF292	OMIM:619188
HP:0001212	Prominent fingertip pads	3188	HNRNPH2	OMIM:300986
HP:0001212	Prominent fingertip pads	2703	GJA8	OMIM:612474
HP:0001212	Prominent fingertip pads	2702	GJA5	OMIM:612474
HP:0001212	Prominent fingertip pads	22907	DHX30	OMIM:617804
HP:0001212	Prominent fingertip pads	8216	LZTR1	OMIM:605275
HP:0001212	Prominent fingertip pads	10522	DEAF1	OMIM:615828
HP:0001212	Prominent fingertip pads	3720	JARID2	OMIM:620098
HP:0001215	Camptodactyly of 2nd-5th fingers	64093	SMOC1	OMIM:206920
HP:0001215	Camptodactyly of 2nd-5th fingers	64093	SMOC1	ORPHA:1106
HP:0001215	Camptodactyly of 2nd-5th fingers	91179	SCARF2	OMIM:600920
HP:0001216	Delayed ossification of carpal bones	5745	PTH1R	OMIM:600002
HP:0001216	Delayed ossification of carpal bones	9361	LONP1	OMIM:600373
HP:0001216	Delayed ossification of carpal bones	8720	MBTPS1	OMIM:618392
HP:0001216	Delayed ossification of carpal bones	59341	TRPV4	OMIM:184252
HP:0001216	Delayed ossification of carpal bones	3549	IHH	OMIM:607778
HP:0001216	Delayed ossification of carpal bones	633	BGN	OMIM:300106
HP:0001216	Delayed ossification of carpal bones	9321	TRIP11	OMIM:184260
HP:0001216	Delayed ossification of carpal bones	23233	EXOC6B	OMIM:618395
HP:0001216	Delayed ossification of carpal bones	2137	EXTL3	OMIM:617425
HP:0001216	Delayed ossification of carpal bones	55325	UFSP2	OMIM:617974
HP:0001216	Delayed ossification of carpal bones	6023	RMRP	OMIM:607095
HP:0001216	Delayed ossification of carpal bones	3209	HOXA13	OMIM:140000
HP:0001216	Delayed ossification of carpal bones	1280	COL2A1	ORPHA:93346
HP:0001216	Delayed ossification of carpal bones	865	CBFB	OMIM:620099
HP:0001216	Delayed ossification of carpal bones	4796	TONSL	OMIM:271510
HP:0001216	Delayed ossification of carpal bones	4148	MATN3	OMIM:607078
HP:0001216	Delayed ossification of carpal bones	55650	PIGV	OMIM:239300
HP:0001218	Autoamputation	7879	RAB7A	OMIM:600882
HP:0001218	Autoamputation	57152	SLURP1	ORPHA:87503
HP:0001218	Autoamputation	10558	SPTLC1	OMIM:162400
HP:0001218	Autoamputation	3848	KRT1	ORPHA:79503
HP:0001218	Autoamputation	2706	GJB2	ORPHA:494
HP:0001218	Autoamputation	2706	GJB2	OMIM:124500
HP:0001218	Autoamputation	65125	WNK1	OMIM:201300
HP:0001218	Autoamputation	54463	RETREG1	OMIM:201300
HP:0001218	Autoamputation	54463	RETREG1	OMIM:613115
HP:0001218	Autoamputation	6335	SCN9A	OMIM:201300
HP:0001218	Autoamputation	547	KIF1A	OMIM:201300
HP:0001218	Autoamputation	547	KIF1A	OMIM:614213
HP:0001218	Autoamputation	162514	TRPV3	OMIM:614594
HP:0001218	Autoamputation	7051	TGM1	ORPHA:100976
HP:0001218	Autoamputation	9517	SPTLC2	OMIM:613640
HP:0001218	Autoamputation	26276	VPS33B	OMIM:620009
HP:0001218	Autoamputation	4358	MPV17	OMIM:256810
HP:0001218	Autoamputation	4914	NTRK1	OMIM:256800
HP:0001218	Autoamputation	11277	TREX1	OMIM:610448
HP:0001218	Autoamputation	51062	ATL1	OMIM:613708
HP:0009839	Osteolytic defects of the distal phalanges of the hand	1513	CTSK	ORPHA:763
HP:0009839	Osteolytic defects of the distal phalanges of the hand	1513	CTSK	OMIM:265800
HP:0009839	Osteolytic defects of the distal phalanges of the hand	4000	LMNA	ORPHA:740
HP:0009839	Osteolytic defects of the distal phalanges of the hand	4000	LMNA	OMIM:248370
HP:0009839	Osteolytic defects of the distal phalanges of the hand	4000	LMNA	ORPHA:90153
HP:0009839	Osteolytic defects of the distal phalanges of the hand	10269	ZMPSTE24	ORPHA:740
HP:0009839	Osteolytic defects of the distal phalanges of the hand	10269	ZMPSTE24	OMIM:608612
HP:0009839	Osteolytic defects of the distal phalanges of the hand	10269	ZMPSTE24	OMIM:275210
HP:0009839	Osteolytic defects of the distal phalanges of the hand	10269	ZMPSTE24	ORPHA:90154
HP:0009839	Osteolytic defects of the distal phalanges of the hand	8815	BANF1	OMIM:614008
HP:0009839	Osteolytic defects of the distal phalanges of the hand	5159	PDGFRB	OMIM:601812
HP:0030588	Abnormal visual field test	64072	CDH23	ORPHA:91347
HP:0030588	Abnormal visual field test	55605	KIF21A	ORPHA:45358
HP:0030588	Abnormal visual field test	347733	TUBB2B	ORPHA:45358
HP:0030588	Abnormal visual field test	7846	TUBA1A	ORPHA:45358
HP:0030588	Abnormal visual field test	401	PHOX2A	ORPHA:45358
HP:0030588	Abnormal visual field test	10381	TUBB3	ORPHA:45358
HP:0030588	Abnormal visual field test	84570	COL25A1	ORPHA:45358
HP:0030588	Abnormal visual field test	4508	MT-ATP6	ORPHA:644
HP:0030588	Abnormal visual field test	1499	CTNNB1	ORPHA:54595
HP:0030588	Abnormal visual field test	673	BRAF	ORPHA:54595
HP:0030588	Abnormal visual field test	8314	BAP1	ORPHA:2495
HP:0030588	Abnormal visual field test	4771	NF2	ORPHA:2495
HP:0030588	Abnormal visual field test	6598	SMARCB1	ORPHA:2495
HP:0030588	Abnormal visual field test	5155	PDGFB	ORPHA:2495
HP:0030588	Abnormal visual field test	84231	TRAF7	ORPHA:2495
HP:0030588	Abnormal visual field test	6608	SMO	ORPHA:2495
HP:0030588	Abnormal visual field test	207	AKT1	ORPHA:2495
HP:0030588	Abnormal visual field test	5290	PIK3CA	ORPHA:2495
HP:0030588	Abnormal visual field test	7015	TERT	ORPHA:2495
HP:0030588	Abnormal visual field test	51684	SUFU	ORPHA:2495
HP:0030588	Abnormal visual field test	6605	SMARCE1	ORPHA:2495
HP:0030586	Abnormal Ishihara plate test	10939	AFG3L2	OMIM:618977
HP:0030584	Color vision test abnormality	22926	ATF6	ORPHA:49382
HP:0030584	Color vision test abnormality	5146	PDE6C	ORPHA:49382
HP:0030584	Color vision test abnormality	6103	RPGR	ORPHA:49382
HP:0030584	Color vision test abnormality	5149	PDE6H	ORPHA:49382
HP:0030584	Color vision test abnormality	2780	GNAT2	ORPHA:49382
HP:0030584	Color vision test abnormality	1261	CNGA3	ORPHA:49382
HP:0030584	Color vision test abnormality	54714	CNGB3	ORPHA:49382
HP:0030584	Color vision test abnormality	611	OPN1SW	ORPHA:88629
HP:0030584	Color vision test abnormality	79152	FA2H	ORPHA:329308
HP:0030584	Color vision test abnormality	10939	AFG3L2	OMIM:618977
HP:0030591	Abnormal kinetic perimetry test	8314	BAP1	ORPHA:2495
HP:0030591	Abnormal kinetic perimetry test	4771	NF2	ORPHA:2495
HP:0030591	Abnormal kinetic perimetry test	6598	SMARCB1	ORPHA:2495
HP:0030591	Abnormal kinetic perimetry test	5155	PDGFB	ORPHA:2495
HP:0030591	Abnormal kinetic perimetry test	84231	TRAF7	ORPHA:2495
HP:0030591	Abnormal kinetic perimetry test	6608	SMO	ORPHA:2495
HP:0030591	Abnormal kinetic perimetry test	207	AKT1	ORPHA:2495
HP:0030591	Abnormal kinetic perimetry test	5290	PIK3CA	ORPHA:2495
HP:0030591	Abnormal kinetic perimetry test	7015	TERT	ORPHA:2495
HP:0030591	Abnormal kinetic perimetry test	51684	SUFU	ORPHA:2495
HP:0030591	Abnormal kinetic perimetry test	6605	SMARCE1	ORPHA:2495
HP:0001220	Interphalangeal joint contracture of finger	64093	SMOC1	OMIM:206920
HP:0001220	Interphalangeal joint contracture of finger	64093	SMOC1	ORPHA:1106
HP:0001220	Interphalangeal joint contracture of finger	91179	SCARF2	OMIM:600920
HP:0001220	Interphalangeal joint contracture of finger	7317	UBA1	ORPHA:1145
HP:0001220	Interphalangeal joint contracture of finger	1292	COL6A2	OMIM:620725
HP:0001220	Interphalangeal joint contracture of finger	1292	COL6A2	ORPHA:610
HP:0001220	Interphalangeal joint contracture of finger	3868	KRT16	ORPHA:2199
HP:0001220	Interphalangeal joint contracture of finger	3857	KRT9	ORPHA:2199
HP:0001220	Interphalangeal joint contracture of finger	3848	KRT1	ORPHA:2199
HP:0001220	Interphalangeal joint contracture of finger	2316	FLNA	OMIM:305620
HP:0001220	Interphalangeal joint contracture of finger	2316	FLNA	ORPHA:1826
HP:0001220	Interphalangeal joint contracture of finger	3861	KRT14	ORPHA:69087
HP:0001220	Interphalangeal joint contracture of finger	6885	MAP3K7	ORPHA:1826
HP:0001220	Interphalangeal joint contracture of finger	388015	RTL1	ORPHA:96334
HP:0001220	Interphalangeal joint contracture of finger	8788	DLK1	ORPHA:96334
HP:0001220	Interphalangeal joint contracture of finger	55384	MEG3	ORPHA:96334
HP:0001220	Interphalangeal joint contracture of finger	1303	COL12A1	ORPHA:610
HP:0001220	Interphalangeal joint contracture of finger	1291	COL6A1	ORPHA:610
HP:0001220	Interphalangeal joint contracture of finger	1293	COL6A3	ORPHA:610
HP:0001220	Interphalangeal joint contracture of finger	4313	MMP2	OMIM:259600
HP:0001220	Interphalangeal joint contracture of finger	55628	ZNF407	OMIM:619557
HP:0001220	Interphalangeal joint contracture of finger	23219	FBXO28	OMIM:619777
HP:0001220	Interphalangeal joint contracture of finger	84265	POLR3GL	OMIM:619234
HP:0001220	Interphalangeal joint contracture of finger	10297	APC2	ORPHA:821
HP:0001220	Interphalangeal joint contracture of finger	80204	FBXO11	OMIM:618089
HP:0001220	Interphalangeal joint contracture of finger	825	CAPN3	ORPHA:267
HP:0001220	Interphalangeal joint contracture of finger	113179	ADAT3	ORPHA:363528
HP:0001220	Interphalangeal joint contracture of finger	51305	KCNK9	ORPHA:166108
HP:0001220	Interphalangeal joint contracture of finger	22880	MORC2	ORPHA:466768
HP:0001220	Interphalangeal joint contracture of finger	170689	ADAMTS15	OMIM:620545
HP:0001220	Interphalangeal joint contracture of finger	6329	SCN4A	OMIM:620351
HP:0001220	Interphalangeal joint contracture of finger	10765	KDM5B	OMIM:618109
HP:0001220	Interphalangeal joint contracture of finger	9487	PIGL	OMIM:280000
HP:0001220	Interphalangeal joint contracture of finger	10093	ARPC4	OMIM:620141
HP:0001220	Interphalangeal joint contracture of finger	25942	SIN3A	OMIM:613406
HP:0001220	Interphalangeal joint contracture of finger	11011	TLK2	OMIM:618050
HP:0001220	Interphalangeal joint contracture of finger	6909	TBX2	OMIM:618223
HP:0001220	Interphalangeal joint contracture of finger	90459	ERI1	OMIM:620662
HP:0001220	Interphalangeal joint contracture of finger	80816	ASXL3	OMIM:615485
HP:0001220	Interphalangeal joint contracture of finger	81857	MED25	ORPHA:464738
HP:0001220	Interphalangeal joint contracture of finger	8243	SMC1A	OMIM:301044
HP:0001220	Interphalangeal joint contracture of finger	1277	COL1A1	OMIM:130060
HP:0001220	Interphalangeal joint contracture of finger	23327	NEDD4L	OMIM:617201
HP:0001220	Interphalangeal joint contracture of finger	8985	PLOD3	OMIM:612394
HP:0001220	Interphalangeal joint contracture of finger	6134	RPL10	OMIM:300998
HP:0001220	Interphalangeal joint contracture of finger	1889	ECE1	OMIM:613870
HP:0001220	Interphalangeal joint contracture of finger	4010	LMX1B	ORPHA:2614
HP:0001220	Interphalangeal joint contracture of finger	26092	TOR1AIP1	OMIM:617072
HP:0001220	Interphalangeal joint contracture of finger	6662	SOX9	OMIM:114290
HP:0001220	Interphalangeal joint contracture of finger	3425	IDUA	OMIM:607015
HP:0001220	Interphalangeal joint contracture of finger	4297	KMT2A	OMIM:605130
HP:0001220	Interphalangeal joint contracture of finger	2218	FKTN	ORPHA:272
HP:0001220	Interphalangeal joint contracture of finger	4621	MYH3	ORPHA:2053
HP:0001220	Interphalangeal joint contracture of finger	4621	MYH3	ORPHA:1146
HP:0001220	Interphalangeal joint contracture of finger	4621	MYH3	ORPHA:2990
HP:0001220	Interphalangeal joint contracture of finger	259232	NALCN	ORPHA:2053
HP:0001220	Interphalangeal joint contracture of finger	259232	NALCN	ORPHA:1146
HP:0001220	Interphalangeal joint contracture of finger	8294	H4C9	OMIM:619951
HP:0001220	Interphalangeal joint contracture of finger	3094	HINT1	ORPHA:324442
HP:0001220	Interphalangeal joint contracture of finger	8838	CCN6	OMIM:208230
HP:0001220	Interphalangeal joint contracture of finger	1947	EFNB1	ORPHA:1520
HP:0001220	Interphalangeal joint contracture of finger	7355	SLC35A2	ORPHA:356961
HP:0001220	Interphalangeal joint contracture of finger	118429	ANTXR2	ORPHA:2176
HP:0001220	Interphalangeal joint contracture of finger	5077	PAX3	ORPHA:1529
HP:0001220	Interphalangeal joint contracture of finger	5077	PAX3	ORPHA:896
HP:0001220	Interphalangeal joint contracture of finger	5077	PAX3	OMIM:148820
HP:0001220	Interphalangeal joint contracture of finger	9241	NOG	ORPHA:3250
HP:0001220	Interphalangeal joint contracture of finger	8200	GDF5	ORPHA:3250
HP:0001220	Interphalangeal joint contracture of finger	54968	TMEM70	ORPHA:1194
HP:0001220	Interphalangeal joint contracture of finger	613	BCR	ORPHA:261330
HP:0001220	Interphalangeal joint contracture of finger	1399	CRKL	ORPHA:261330
HP:0001220	Interphalangeal joint contracture of finger	5594	MAPK1	ORPHA:261330
HP:0001220	Interphalangeal joint contracture of finger	84466	MEGF10	OMIM:614399
HP:0001220	Interphalangeal joint contracture of finger	72	ACTG2	ORPHA:2604
HP:0001220	Interphalangeal joint contracture of finger	2201	FBN2	OMIM:121050
HP:0001220	Interphalangeal joint contracture of finger	2201	FBN2	ORPHA:115
HP:0001220	Interphalangeal joint contracture of finger	10216	PRG4	ORPHA:2848
HP:0001220	Interphalangeal joint contracture of finger	3508	IGHMBP2	OMIM:604320
HP:0001220	Interphalangeal joint contracture of finger	6926	TBX3	ORPHA:3138
HP:0001220	Interphalangeal joint contracture of finger	51360	MBTPS2	ORPHA:2273
HP:0001220	Interphalangeal joint contracture of finger	10381	TUBB3	OMIM:600638
HP:0001220	Interphalangeal joint contracture of finger	9469	CHST3	OMIM:143095
HP:0001220	Interphalangeal joint contracture of finger	3423	IDS	ORPHA:217085
HP:0001220	Interphalangeal joint contracture of finger	3423	IDS	ORPHA:217093
HP:0001220	Interphalangeal joint contracture of finger	64359	NXN	ORPHA:1507
HP:0001220	Interphalangeal joint contracture of finger	4920	ROR2	ORPHA:1507
HP:0001220	Interphalangeal joint contracture of finger	2697	GJA1	ORPHA:2710
HP:0001220	Interphalangeal joint contracture of finger	2697	GJA1	ORPHA:93404
HP:0001220	Interphalangeal joint contracture of finger	64127	NOD2	OMIM:186580
HP:0001220	Interphalangeal joint contracture of finger	64127	NOD2	ORPHA:90340
HP:0001220	Interphalangeal joint contracture of finger	6999	TDO2	OMIM:600627
HP:0001220	Interphalangeal joint contracture of finger	1301	COL11A1	ORPHA:2021
HP:0001220	Interphalangeal joint contracture of finger	1302	COL11A2	ORPHA:2021
HP:0001220	Interphalangeal joint contracture of finger	4929	NR4A2	ORPHA:1617
HP:0001220	Interphalangeal joint contracture of finger	10716	TBR1	ORPHA:1617
HP:0001220	Interphalangeal joint contracture of finger	4593	MUSK	OMIM:208150
HP:0001220	Interphalangeal joint contracture of finger	4593	MUSK	ORPHA:994
HP:0001220	Interphalangeal joint contracture of finger	63895	PIEZO2	OMIM:114300
HP:0001220	Interphalangeal joint contracture of finger	63895	PIEZO2	ORPHA:376
HP:0001220	Interphalangeal joint contracture of finger	63895	PIEZO2	ORPHA:2461
HP:0001220	Interphalangeal joint contracture of finger	56006	SMG9	OMIM:616920
HP:0001220	Interphalangeal joint contracture of finger	1857	DVL3	ORPHA:3107
HP:0001220	Interphalangeal joint contracture of finger	7474	WNT5A	ORPHA:3107
HP:0001220	Interphalangeal joint contracture of finger	1855	DVL1	ORPHA:3107
HP:0001220	Interphalangeal joint contracture of finger	2535	FZD2	ORPHA:3107
HP:0001220	Interphalangeal joint contracture of finger	9508	ADAMTS3	ORPHA:2136
HP:0001220	Interphalangeal joint contracture of finger	147372	CCBE1	ORPHA:2136
HP:0001220	Interphalangeal joint contracture of finger	79633	FAT4	ORPHA:2136
HP:0001220	Interphalangeal joint contracture of finger	5189	PEX1	ORPHA:3220
HP:0001220	Interphalangeal joint contracture of finger	5190	PEX6	ORPHA:3220
HP:0001220	Interphalangeal joint contracture of finger	5590	PRKCZ	ORPHA:1606
HP:0001220	Interphalangeal joint contracture of finger	2563	GABRD	ORPHA:1606
HP:0001220	Interphalangeal joint contracture of finger	23013	SPEN	ORPHA:1606
HP:0001220	Interphalangeal joint contracture of finger	8510	MMP23B	ORPHA:1606
HP:0001220	Interphalangeal joint contracture of finger	7798	LUZP1	ORPHA:1606
HP:0001220	Interphalangeal joint contracture of finger	6497	SKI	ORPHA:1606
HP:0001220	Interphalangeal joint contracture of finger	6497	SKI	ORPHA:2462
HP:0001220	Interphalangeal joint contracture of finger	10630	PDPN	ORPHA:1606
HP:0001220	Interphalangeal joint contracture of finger	3339	HSPG2	ORPHA:1606
HP:0001220	Interphalangeal joint contracture of finger	10277	UBE4B	ORPHA:1606
HP:0001220	Interphalangeal joint contracture of finger	8514	KCNAB2	ORPHA:1606
HP:0001220	Interphalangeal joint contracture of finger	473	RERE	ORPHA:1606
HP:0001220	Interphalangeal joint contracture of finger	63976	PRDM16	ORPHA:1606
HP:0001220	Interphalangeal joint contracture of finger	54897	CASZ1	ORPHA:1606
HP:0001220	Interphalangeal joint contracture of finger	9719	ADAMTSL2	OMIM:231050
HP:0001220	Interphalangeal joint contracture of finger	4952	OCRL	OMIM:309000
HP:0001220	Interphalangeal joint contracture of finger	8517	IKBKG	ORPHA:464
HP:0001220	Interphalangeal joint contracture of finger	10436	EMG1	ORPHA:1270
HP:0001220	Interphalangeal joint contracture of finger	57492	ARID1B	ORPHA:251056
HP:0001220	Interphalangeal joint contracture of finger	11128	POLR3A	ORPHA:3455
HP:0001220	Interphalangeal joint contracture of finger	2239	GPC4	ORPHA:373
HP:0001220	Interphalangeal joint contracture of finger	2719	GPC3	ORPHA:373
HP:0001220	Interphalangeal joint contracture of finger	55612	FERMT1	ORPHA:2908
HP:0001220	Interphalangeal joint contracture of finger	3977	LIFR	ORPHA:3206
HP:0001220	Interphalangeal joint contracture of finger	23483	TGDS	ORPHA:1388
HP:0001220	Interphalangeal joint contracture of finger	2260	FGFR1	OMIM:166250
HP:0001220	Interphalangeal joint contracture of finger	7140	TNNT3	ORPHA:1146
HP:0001220	Interphalangeal joint contracture of finger	7169	TPM2	ORPHA:1146
HP:0001220	Interphalangeal joint contracture of finger	7136	TNNI2	ORPHA:1146
HP:0001220	Interphalangeal joint contracture of finger	7136	TNNI2	OMIM:601680
HP:0001220	Interphalangeal joint contracture of finger	4604	MYBPC1	ORPHA:1146
HP:0001220	Interphalangeal joint contracture of finger	117581	TWIST2	ORPHA:920
HP:0001220	Interphalangeal joint contracture of finger	64324	NSD1	ORPHA:3447
HP:0001220	Interphalangeal joint contracture of finger	23512	SUZ12	ORPHA:3447
HP:0001220	Interphalangeal joint contracture of finger	2146	EZH2	ORPHA:3447
HP:0001220	Interphalangeal joint contracture of finger	1723	DHODH	ORPHA:246
HP:0001220	Interphalangeal joint contracture of finger	257	ALX3	ORPHA:391474
HP:0001220	Interphalangeal joint contracture of finger	3239	HOXD13	OMIM:186300
HP:0001220	Interphalangeal joint contracture of finger	3239	HOXD13	ORPHA:93406
HP:0001220	Interphalangeal joint contracture of finger	54903	MKS1	OMIM:249000
HP:0001220	Interphalangeal joint contracture of finger	91252	SLC39A13	OMIM:612350
HP:0001220	Interphalangeal joint contracture of finger	22930	RAB3GAP1	OMIM:619420
HP:0001220	Interphalangeal joint contracture of finger	7046	TGFBR1	ORPHA:60030
HP:0001220	Interphalangeal joint contracture of finger	10526	IPO8	ORPHA:60030
HP:0001220	Interphalangeal joint contracture of finger	7048	TGFBR2	ORPHA:60030
HP:0001220	Interphalangeal joint contracture of finger	7042	TGFB2	ORPHA:60030
HP:0001220	Interphalangeal joint contracture of finger	7043	TGFB3	ORPHA:60030
HP:0001220	Interphalangeal joint contracture of finger	4087	SMAD2	ORPHA:60030
HP:0001220	Interphalangeal joint contracture of finger	4088	SMAD3	ORPHA:60030
HP:0001220	Interphalangeal joint contracture of finger	4088	SMAD3	ORPHA:284984
HP:0001220	Interphalangeal joint contracture of finger	3897	L1CAM	ORPHA:2466
HP:0001220	Interphalangeal joint contracture of finger	2245	FGD1	ORPHA:915
HP:0001220	Interphalangeal joint contracture of finger	2200	FBN1	ORPHA:2462
HP:0001220	Interphalangeal joint contracture of finger	7227	TRPS1	ORPHA:77258
HP:0001220	Interphalangeal joint contracture of finger	27238	GPKOW	ORPHA:2570
HP:0001220	Interphalangeal joint contracture of finger	10466	COG5	ORPHA:263487
HP:0001220	Interphalangeal joint contracture of finger	55315	SLC29A3	OMIM:602782
HP:0001220	Interphalangeal joint contracture of finger	23102	TBC1D2B	OMIM:619323
HP:0001220	Interphalangeal joint contracture of finger	2068	ERCC2	OMIM:610756
HP:0001220	Interphalangeal joint contracture of finger	2068	ERCC2	ORPHA:1466
HP:0001220	Interphalangeal joint contracture of finger	51114	ZDHHC9	ORPHA:776
HP:0001220	Interphalangeal joint contracture of finger	65109	UPF3B	ORPHA:776
HP:0001220	Interphalangeal joint contracture of finger	9968	MED12	ORPHA:776
HP:0001220	Interphalangeal joint contracture of finger	2067	ERCC1	OMIM:610758
HP:0001220	Interphalangeal joint contracture of finger	2067	ERCC1	ORPHA:1466
HP:0001220	Interphalangeal joint contracture of finger	114548	NLRP3	ORPHA:575
HP:0001220	Interphalangeal joint contracture of finger	2074	ERCC6	ORPHA:1466
HP:0001220	Interphalangeal joint contracture of finger	2073	ERCC5	ORPHA:1466
HP:0001220	Interphalangeal joint contracture of finger	134701	RIPPLY2	ORPHA:2311
HP:0001220	Interphalangeal joint contracture of finger	10683	DLL3	ORPHA:2311
HP:0001220	Interphalangeal joint contracture of finger	3955	LFNG	ORPHA:2311
HP:0001220	Interphalangeal joint contracture of finger	84667	HES7	ORPHA:2311
HP:0001220	Interphalangeal joint contracture of finger	145873	MESP2	ORPHA:2311
HP:0001220	Interphalangeal joint contracture of finger	81620	CDT1	ORPHA:2554
HP:0001220	Interphalangeal joint contracture of finger	5000	ORC4	ORPHA:2554
HP:0001220	Interphalangeal joint contracture of finger	23594	ORC6	ORPHA:2554
HP:0001220	Interphalangeal joint contracture of finger	8318	CDC45	ORPHA:2554
HP:0001220	Interphalangeal joint contracture of finger	990	CDC6	ORPHA:2554
HP:0001220	Interphalangeal joint contracture of finger	4998	ORC1	ORPHA:2554
HP:0001220	Interphalangeal joint contracture of finger	51053	GMNN	ORPHA:2554
HP:0001220	Interphalangeal joint contracture of finger	8260	NAA10	ORPHA:568
HP:0001220	Interphalangeal joint contracture of finger	54880	BCOR	ORPHA:568
HP:0001220	Interphalangeal joint contracture of finger	64327	LMBR1	ORPHA:93405
HP:0001220	Interphalangeal joint contracture of finger	6469	SHH	ORPHA:93405
HP:0001220	Interphalangeal joint contracture of finger	51715	RAB23	ORPHA:65759
HP:0001220	Interphalangeal joint contracture of finger	1954	MEGF8	ORPHA:65759
HP:0001220	Interphalangeal joint contracture of finger	55605	KIF21A	ORPHA:994
HP:0001220	Interphalangeal joint contracture of finger	4927	NUP88	ORPHA:994
HP:0001220	Interphalangeal joint contracture of finger	7846	TUBA1A	ORPHA:994
HP:0001220	Interphalangeal joint contracture of finger	4654	MYOD1	ORPHA:994
HP:0001220	Interphalangeal joint contracture of finger	54551	MAGEL2	ORPHA:994
HP:0001220	Interphalangeal joint contracture of finger	5913	RAPSN	ORPHA:994
HP:0001220	Interphalangeal joint contracture of finger	6572	SLC18A3	ORPHA:994
HP:0001220	Interphalangeal joint contracture of finger	285489	DOK7	ORPHA:994
HP:0001220	Interphalangeal joint contracture of finger	3914	LAMB3	OMIM:226650
HP:0001220	Interphalangeal joint contracture of finger	8092	ALX1	ORPHA:306542
HP:0001220	Interphalangeal joint contracture of finger	29895	MYL11	OMIM:619110
HP:0001220	Interphalangeal joint contracture of finger	64840	PORCN	ORPHA:2092
HP:0001220	Interphalangeal joint contracture of finger	23443	SLC35A3	OMIM:615553
HP:0001220	Interphalangeal joint contracture of finger	285590	SH3PXD2B	ORPHA:137834
HP:0001220	Interphalangeal joint contracture of finger	1836	SLC26A2	ORPHA:628
HP:0001220	Interphalangeal joint contracture of finger	25914	RTTN	ORPHA:468631
HP:0001220	Interphalangeal joint contracture of finger	9935	MAFB	ORPHA:2774
HP:0001220	Interphalangeal joint contracture of finger	28952	CCDC22	OMIM:300963
HP:0001220	Interphalangeal joint contracture of finger	8450	CUL4B	ORPHA:85293
HP:0001220	Interphalangeal joint contracture of finger	8242	KDM5C	ORPHA:85279
HP:0001220	Interphalangeal joint contracture of finger	59341	TRPV4	ORPHA:2635
HP:0001220	Interphalangeal joint contracture of finger	2261	FGFR3	ORPHA:85164
HP:0001220	Interphalangeal joint contracture of finger	4000	LMNA	ORPHA:1662
HP:0001220	Interphalangeal joint contracture of finger	10269	ZMPSTE24	ORPHA:1662
HP:0001220	Interphalangeal joint contracture of finger	1146	CHRNG	ORPHA:2990
HP:0001220	Interphalangeal joint contracture of finger	23522	KAT6B	ORPHA:3047
HP:0001220	Interphalangeal joint contracture of finger	26123	TCTN3	ORPHA:2753
HP:0001220	Interphalangeal joint contracture of finger	64131	XYLT1	ORPHA:1425
HP:0001220	Interphalangeal joint contracture of finger	124583	CANT1	ORPHA:1425
HP:0001220	Interphalangeal joint contracture of finger	55790	CSGALNACT1	ORPHA:1425
HP:0001220	Interphalangeal joint contracture of finger	23529	CLCF1	ORPHA:1545
HP:0001220	Interphalangeal joint contracture of finger	9244	CRLF1	ORPHA:1545
HP:0001220	Interphalangeal joint contracture of finger	79693	YRDC	ORPHA:2065
HP:0001220	Interphalangeal joint contracture of finger	51002	TPRKB	ORPHA:2065
HP:0001220	Interphalangeal joint contracture of finger	84942	WDR73	ORPHA:2065
HP:0001220	Interphalangeal joint contracture of finger	55644	OSGEP	ORPHA:2065
HP:0001220	Interphalangeal joint contracture of finger	57122	NUP107	ORPHA:2065
HP:0001220	Interphalangeal joint contracture of finger	10785	WDR4	ORPHA:2065
HP:0001220	Interphalangeal joint contracture of finger	55746	NUP133	ORPHA:2065
HP:0001220	Interphalangeal joint contracture of finger	84520	GON7	ORPHA:2065
HP:0001220	Interphalangeal joint contracture of finger	112858	TP53RK	ORPHA:2065
HP:0001220	Interphalangeal joint contracture of finger	8270	LAGE3	ORPHA:2065
HP:0001220	Interphalangeal joint contracture of finger	5696	PSMB8	OMIM:256040
HP:0001220	Interphalangeal joint contracture of finger	56916	SMARCAD1	ORPHA:1658
HP:0001222	Spatulate thumbs	9469	CHST3	OMIM:245600
HP:0001222	Spatulate thumbs	26229	B3GAT3	OMIM:245600
HP:0001222	Spatulate thumbs	126792	B3GALT6	OMIM:615349
HP:0001222	Spatulate thumbs	126792	B3GALT6	OMIM:271640
HP:0001222	Spatulate thumbs	2317	FLNB	OMIM:150250
HP:0001223	Pointed proximal second through fifth metacarpals	2720	GLB1	OMIM:253010
HP:0001223	Pointed proximal second through fifth metacarpals	2588	GALNS	OMIM:253000
HP:0003019	Abnormality of the wrist	2131	EXT1	ORPHA:321
HP:0003019	Abnormality of the wrist	2132	EXT2	ORPHA:321
HP:0003019	Abnormality of the wrist	9401	RECQL4	ORPHA:1225
HP:0003019	Abnormality of the wrist	51199	NIN	OMIM:614851
HP:0003019	Abnormality of the wrist	51199	NIN	ORPHA:319675
HP:0003019	Abnormality of the wrist	6910	TBX5	OMIM:142900
HP:0003019	Abnormality of the wrist	6473	SHOX	ORPHA:240
HP:0003019	Abnormality of the wrist	6473	SHOX	OMIM:127300
HP:0003019	Abnormality of the wrist	6473	SHOX	ORPHA:2632
HP:0003019	Abnormality of the wrist	9361	LONP1	OMIM:600373
HP:0003019	Abnormality of the wrist	8720	MBTPS1	OMIM:618392
HP:0003019	Abnormality of the wrist	59341	TRPV4	OMIM:184252
HP:0003019	Abnormality of the wrist	3549	IHH	OMIM:607778
HP:0003019	Abnormality of the wrist	633	BGN	OMIM:300106
HP:0003019	Abnormality of the wrist	9321	TRIP11	OMIM:184260
HP:0003019	Abnormality of the wrist	23233	EXOC6B	OMIM:618395
HP:0003019	Abnormality of the wrist	2137	EXTL3	OMIM:617425
HP:0003019	Abnormality of the wrist	55325	UFSP2	OMIM:617974
HP:0003019	Abnormality of the wrist	6023	RMRP	OMIM:607095
HP:0003019	Abnormality of the wrist	3209	HOXA13	OMIM:140000
HP:0003019	Abnormality of the wrist	865	CBFB	OMIM:620099
HP:0003019	Abnormality of the wrist	4796	TONSL	OMIM:271510
HP:0003019	Abnormality of the wrist	4148	MATN3	OMIM:607078
HP:0003019	Abnormality of the wrist	55650	PIGV	OMIM:239300
HP:0003019	Abnormality of the wrist	8838	CCN6	ORPHA:1159
HP:0003019	Abnormality of the wrist	10216	PRG4	ORPHA:2848
HP:0003019	Abnormality of the wrist	4952	OCRL	OMIM:309000
HP:0003019	Abnormality of the wrist	2316	FLNA	OMIM:305620
HP:0003019	Abnormality of the wrist	2316	FLNA	ORPHA:1826
HP:0003019	Abnormality of the wrist	4204	MECP2	OMIM:300055
HP:0003019	Abnormality of the wrist	4621	MYH3	OMIM:193700
HP:0003019	Abnormality of the wrist	4593	MUSK	OMIM:208150
HP:0003019	Abnormality of the wrist	29895	MYL11	OMIM:619110
HP:0003019	Abnormality of the wrist	10381	TUBB3	OMIM:600638
HP:0003019	Abnormality of the wrist	57863	CADM3	OMIM:619519
HP:0003019	Abnormality of the wrist	55681	SCYL2	ORPHA:1143
HP:0003019	Abnormality of the wrist	84570	COL25A1	ORPHA:1143
HP:0003019	Abnormality of the wrist	57222	ERGIC1	ORPHA:1143
HP:0003019	Abnormality of the wrist	57211	ADGRG6	OMIM:616503
HP:0003019	Abnormality of the wrist	80208	SPG11	OMIM:616668
HP:0003019	Abnormality of the wrist	6885	MAP3K7	ORPHA:1826
HP:0003019	Abnormality of the wrist	3339	HSPG2	OMIM:255800
HP:0003019	Abnormality of the wrist	3339	HSPG2	ORPHA:800
HP:0003019	Abnormality of the wrist	7138	TNNT1	OMIM:620386
HP:0003019	Abnormality of the wrist	9719	ADAMTSL2	OMIM:231050
HP:0003019	Abnormality of the wrist	126792	B3GALT6	OMIM:609465
HP:0003019	Abnormality of the wrist	4313	MMP2	OMIM:259600
HP:0003019	Abnormality of the wrist	4000	LMNA	OMIM:181350
HP:0003019	Abnormality of the wrist	825	CAPN3	ORPHA:267
HP:0003019	Abnormality of the wrist	6913	TBX15	OMIM:260660
HP:0003019	Abnormality of the wrist	388015	RTL1	ORPHA:254528
HP:0003019	Abnormality of the wrist	8788	DLK1	ORPHA:254528
HP:0003019	Abnormality of the wrist	55384	MEG3	ORPHA:254528
HP:0003019	Abnormality of the wrist	4921	DDR2	OMIM:618175
HP:0003019	Abnormality of the wrist	2201	FBN2	OMIM:121050
HP:0003019	Abnormality of the wrist	8449	DHX16	OMIM:618733
HP:0003019	Abnormality of the wrist	27145	FILIP1	OMIM:620775
HP:0003019	Abnormality of the wrist	2067	ERCC1	OMIM:610758
HP:0003019	Abnormality of the wrist	1303	COL12A1	ORPHA:610
HP:0003019	Abnormality of the wrist	1291	COL6A1	ORPHA:610
HP:0003019	Abnormality of the wrist	1292	COL6A2	ORPHA:610
HP:0003019	Abnormality of the wrist	1293	COL6A3	ORPHA:610
HP:0003019	Abnormality of the wrist	203859	ANO5	ORPHA:206549
HP:0003019	Abnormality of the wrist	5566	PRKACA	ORPHA:289
HP:0003019	Abnormality of the wrist	5567	PRKACB	ORPHA:289
HP:0003019	Abnormality of the wrist	2735	GLI1	ORPHA:289
HP:0003019	Abnormality of the wrist	2121	EVC	ORPHA:289
HP:0003019	Abnormality of the wrist	2121	EVC	OMIM:225500
HP:0003019	Abnormality of the wrist	51626	DYNC2LI1	ORPHA:289
HP:0003019	Abnormality of the wrist	132884	EVC2	ORPHA:289
HP:0003019	Abnormality of the wrist	132884	EVC2	OMIM:225500
HP:0003019	Abnormality of the wrist	64093	SMOC1	OMIM:206920
HP:0003019	Abnormality of the wrist	54928	BPNT2	OMIM:614078
HP:0003019	Abnormality of the wrist	4323	MMP14	ORPHA:371428
HP:0003019	Abnormality of the wrist	4323	MMP14	OMIM:277950
HP:0003019	Abnormality of the wrist	54808	DYM	OMIM:223800
HP:0003019	Abnormality of the wrist	89970	RSPRY1	ORPHA:457395
HP:0003019	Abnormality of the wrist	89970	RSPRY1	OMIM:616723
HP:0003019	Abnormality of the wrist	5832	ALDH18A1	OMIM:601162
HP:0003019	Abnormality of the wrist	427	ASAH1	ORPHA:333
HP:0003019	Abnormality of the wrist	538	ATP7A	ORPHA:198
HP:0003019	Abnormality of the wrist	64327	LMBR1	ORPHA:2378
HP:0003019	Abnormality of the wrist	1280	COL2A1	ORPHA:93316
HP:0003019	Abnormality of the wrist	5077	PAX3	ORPHA:1529
HP:0003019	Abnormality of the wrist	157570	ESCO2	ORPHA:2319
HP:0003019	Abnormality of the wrist	9935	MAFB	ORPHA:2774
HP:0003019	Abnormality of the wrist	207	AKT1	ORPHA:744
HP:0003019	Abnormality of the wrist	5447	POR	ORPHA:95699
HP:0003019	Abnormality of the wrist	9241	NOG	ORPHA:3250
HP:0003019	Abnormality of the wrist	8200	GDF5	ORPHA:3250
HP:0003019	Abnormality of the wrist	6775	STAT4	ORPHA:85408
HP:0003019	Abnormality of the wrist	3560	IL2RB	ORPHA:85408
HP:0003019	Abnormality of the wrist	79722	ANKRD55	ORPHA:85408
HP:0003019	Abnormality of the wrist	26191	PTPN22	ORPHA:85408
HP:0003019	Abnormality of the wrist	919	CD247	ORPHA:85408
HP:0003019	Abnormality of the wrist	3559	IL2RA	ORPHA:85408
HP:0003019	Abnormality of the wrist	5771	PTPN2	ORPHA:85408
HP:0003019	Abnormality of the wrist	5718	PSMD12	ORPHA:529962
HP:0003019	Abnormality of the wrist	2186	BPTF	ORPHA:529962
HP:0003019	Abnormality of the wrist	1294	COL7A1	ORPHA:89843
HP:0003019	Abnormality of the wrist	6926	TBX3	ORPHA:3138
HP:0003019	Abnormality of the wrist	7421	VDR	OMIM:277440
HP:0003019	Abnormality of the wrist	9131	AIFM1	ORPHA:83629
HP:0003019	Abnormality of the wrist	120227	CYP2R1	OMIM:600081
HP:0003019	Abnormality of the wrist	120227	CYP2R1	ORPHA:289157
HP:0003019	Abnormality of the wrist	1594	CYP27B1	OMIM:264700
HP:0003019	Abnormality of the wrist	1594	CYP27B1	ORPHA:289157
HP:0003019	Abnormality of the wrist	1184	CLCN5	OMIM:300554
HP:0003019	Abnormality of the wrist	1184	CLCN5	OMIM:300009
HP:0003019	Abnormality of the wrist	1758	DMP1	ORPHA:289176
HP:0003019	Abnormality of the wrist	5167	ENPP1	ORPHA:289176
HP:0003019	Abnormality of the wrist	142680	SLC34A3	OMIM:241530
HP:0003019	Abnormality of the wrist	1311	COMP	OMIM:177170
HP:0003019	Abnormality of the wrist	2317	FLNB	ORPHA:56305
HP:0003019	Abnormality of the wrist	23387	SIK3	OMIM:618162
HP:0003019	Abnormality of the wrist	171023	ASXL1	ORPHA:97297
HP:0003019	Abnormality of the wrist	171023	ASXL1	OMIM:605039
HP:0003019	Abnormality of the wrist	57498	KIDINS220	OMIM:619501
HP:0003019	Abnormality of the wrist	5881	RAC3	OMIM:618577
HP:0003019	Abnormality of the wrist	2720	GLB1	OMIM:253010
HP:0003019	Abnormality of the wrist	2588	GALNS	OMIM:253000
HP:0003019	Abnormality of the wrist	7140	TNNT3	ORPHA:1147
HP:0003019	Abnormality of the wrist	7140	TNNT3	OMIM:618435
HP:0003019	Abnormality of the wrist	7169	TPM2	ORPHA:1147
HP:0003019	Abnormality of the wrist	259232	NALCN	ORPHA:1147
HP:0003019	Abnormality of the wrist	7136	TNNI2	ORPHA:1147
HP:0003019	Abnormality of the wrist	7136	TNNI2	OMIM:601680
HP:0003019	Abnormality of the wrist	79087	ALG12	ORPHA:79324
HP:0003019	Abnormality of the wrist	9203	ZMYM3	OMIM:301111
HP:0003019	Abnormality of the wrist	25839	COG4	OMIM:618150
HP:0003019	Abnormality of the wrist	5745	PTH1R	ORPHA:296
HP:0003019	Abnormality of the wrist	3418	IDH2	ORPHA:296
HP:0003019	Abnormality of the wrist	3417	IDH1	ORPHA:296
HP:0003019	Abnormality of the wrist	2697	GJA1	ORPHA:2710
HP:0003019	Abnormality of the wrist	165	AEBP1	ORPHA:536532
HP:0003019	Abnormality of the wrist	84068	SLC10A7	OMIM:618363
HP:0003019	Abnormality of the wrist	29072	SETD2	OMIM:616831
HP:0003019	Abnormality of the wrist	5144	PDE4D	OMIM:614613
HP:0003019	Abnormality of the wrist	54187	NANS	OMIM:610442
HP:0003019	Abnormality of the wrist	64131	XYLT1	OMIM:615777
HP:0003019	Abnormality of the wrist	347734	SLC35B2	OMIM:620269
HP:0003019	Abnormality of the wrist	23169	SLC35D1	OMIM:269250
HP:0003019	Abnormality of the wrist	124583	CANT1	OMIM:617719
HP:0003019	Abnormality of the wrist	124583	CANT1	OMIM:251450
HP:0003019	Abnormality of the wrist	9451	EIF2AK3	OMIM:226980
HP:0003019	Abnormality of the wrist	23592	LEMD3	ORPHA:166119
HP:0003019	Abnormality of the wrist	10682	EBP	OMIM:302960
HP:0003019	Abnormality of the wrist	10568	SLC34A2	ORPHA:60025
HP:0003019	Abnormality of the wrist	6469	SHH	ORPHA:93321
HP:0003019	Abnormality of the wrist	64359	NXN	ORPHA:1507
HP:0003019	Abnormality of the wrist	4920	ROR2	ORPHA:1507
HP:0003019	Abnormality of the wrist	727857	BHLHA9	ORPHA:157801
HP:0003019	Abnormality of the wrist	9555	MACROH2A1	ORPHA:1275
HP:0003019	Abnormality of the wrist	5307	PITX1	ORPHA:1275
HP:0003019	Abnormality of the wrist	4038	LRP4	ORPHA:3258
HP:0003019	Abnormality of the wrist	324	APC	ORPHA:3258
HP:0003019	Abnormality of the wrist	2263	FGFR2	OMIM:101200
HP:0003019	Abnormality of the wrist	3835	KIF22	ORPHA:93360
HP:0003019	Abnormality of the wrist	9469	CHST3	OMIM:143095
HP:0003019	Abnormality of the wrist	2719	GPC3	OMIM:312870
HP:0003019	Abnormality of the wrist	2239	GPC4	OMIM:312870
HP:0003019	Abnormality of the wrist	4853	NOTCH2	OMIM:102500
HP:0003019	Abnormality of the wrist	57167	SALL4	OMIM:147750
HP:0003019	Abnormality of the wrist	79158	GNPTAB	ORPHA:576
HP:0003019	Abnormality of the wrist	10269	ZMPSTE24	ORPHA:740
HP:0003019	Abnormality of the wrist	54332	GDAP1	ORPHA:99948
HP:0003019	Abnormality of the wrist	6399	TRAPPC2	ORPHA:93284
HP:0003019	Abnormality of the wrist	80207	OPA3	ORPHA:67036
HP:0003019	Abnormality of the wrist	4054	LTBP3	OMIM:617809
HP:0003019	Abnormality of the wrist	8292	COLQ	ORPHA:98915
HP:0003019	Abnormality of the wrist	3913	LAMB2	ORPHA:98915
HP:0003019	Abnormality of the wrist	63895	PIEZO2	OMIM:108145
HP:0003019	Abnormality of the wrist	10020	GNE	ORPHA:602
HP:0003019	Abnormality of the wrist	7476	WNT7A	OMIM:276820
HP:0003019	Abnormality of the wrist	368	ABCC6	ORPHA:51608
HP:0003019	Abnormality of the wrist	85301	COL27A1	OMIM:615155
HP:0003019	Abnormality of the wrist	2261	FGFR3	ORPHA:53271
HP:0003019	Abnormality of the wrist	9939	RBM8A	OMIM:274000
HP:0003019	Abnormality of the wrist	22856	CHSY1	OMIM:605282
HP:0003019	Abnormality of the wrist	658	BMPR1B	OMIM:609441
HP:0003019	Abnormality of the wrist	3239	HOXD13	OMIM:186300
HP:0003019	Abnormality of the wrist	2192	FBLN1	OMIM:608180
HP:0003019	Abnormality of the wrist	7516	XRCC2	OMIM:617247
HP:0003019	Abnormality of the wrist	11160	ERLIN2	ORPHA:209951
HP:0003019	Abnormality of the wrist	5297	PI4KA	OMIM:616531
HP:0001225	Wrist swelling	8838	CCN6	ORPHA:1159
HP:0001225	Wrist swelling	10216	PRG4	ORPHA:2848
HP:0001225	Wrist swelling	9935	MAFB	OMIM:166300
HP:0001225	Wrist swelling	9935	MAFB	ORPHA:2774
HP:0001225	Wrist swelling	4952	OCRL	OMIM:309000
HP:0006121	Acral ulceration	22948	CCT5	OMIM:256840
HP:0006121	Acral ulceration	22948	CCT5	ORPHA:139578
HP:0006121	Acral ulceration	547	KIF1A	OMIM:614213
HP:0006121	Acral ulceration	547	KIF1A	OMIM:201300
HP:0006121	Acral ulceration	10558	SPTLC1	OMIM:162400
HP:0006121	Acral ulceration	4358	MPV17	OMIM:256810
HP:0006121	Acral ulceration	4914	NTRK1	OMIM:256800
HP:0006121	Acral ulceration	54463	RETREG1	OMIM:613115
HP:0006121	Acral ulceration	54463	RETREG1	OMIM:201300
HP:0006121	Acral ulceration	65125	WNK1	OMIM:201300
HP:0006121	Acral ulceration	6335	SCN9A	OMIM:201300
HP:0006121	Acral ulceration	4803	NGF	OMIM:608654
HP:0001227	Abnormality of the thenar eminence	6138	RPL15	ORPHA:124
HP:0001227	Abnormality of the thenar eminence	6224	RPS20	ORPHA:124
HP:0001227	Abnormality of the thenar eminence	6165	RPL35A	ORPHA:124
HP:0001227	Abnormality of the thenar eminence	6132	RPL8	ORPHA:124
HP:0001227	Abnormality of the thenar eminence	6223	RPS19	ORPHA:124
HP:0001227	Abnormality of the thenar eminence	6232	RPS27	ORPHA:124
HP:0001227	Abnormality of the thenar eminence	55027	HEATR3	ORPHA:124
HP:0001227	Abnormality of the thenar eminence	6160	RPL31	ORPHA:124
HP:0001227	Abnormality of the thenar eminence	6201	RPS7	ORPHA:124
HP:0001227	Abnormality of the thenar eminence	6155	RPL27	ORPHA:124
HP:0001227	Abnormality of the thenar eminence	6234	RPS28	ORPHA:124
HP:0001227	Abnormality of the thenar eminence	6135	RPL11	ORPHA:124
HP:0001227	Abnormality of the thenar eminence	6229	RPS24	ORPHA:124
HP:0001227	Abnormality of the thenar eminence	6125	RPL5	ORPHA:124
HP:0001227	Abnormality of the thenar eminence	6204	RPS10	ORPHA:124
HP:0001227	Abnormality of the thenar eminence	2623	GATA1	ORPHA:124
HP:0001227	Abnormality of the thenar eminence	6133	RPL9	ORPHA:124
HP:0001227	Abnormality of the thenar eminence	6231	RPS26	ORPHA:124
HP:0001227	Abnormality of the thenar eminence	11224	RPL35	ORPHA:124
HP:0001227	Abnormality of the thenar eminence	6218	RPS17	ORPHA:124
HP:0001227	Abnormality of the thenar eminence	6154	RPL26	ORPHA:124
HP:0001227	Abnormality of the thenar eminence	6210	RPS15A	ORPHA:124
HP:0001227	Abnormality of the thenar eminence	90121	TSR2	ORPHA:124
HP:0001227	Abnormality of the thenar eminence	6141	RPL18	ORPHA:124
HP:0001227	Abnormality of the thenar eminence	6235	RPS29	ORPHA:124
HP:0001227	Abnormality of the thenar eminence	51816	ADA2	ORPHA:124
HP:0001227	Abnormality of the thenar eminence	6910	TBX5	OMIM:142900
HP:0001227	Abnormality of the thenar eminence	11117	EMILIN1	OMIM:620080
HP:0001227	Abnormality of the thenar eminence	5889	RAD51C	OMIM:613390
HP:0001227	Abnormality of the thenar eminence	9775	EIF4A3	OMIM:268305
HP:0001227	Abnormality of the thenar eminence	57167	SALL4	OMIM:147750
HP:0001227	Abnormality of the thenar eminence	57167	SALL4	OMIM:607323
HP:0001227	Abnormality of the thenar eminence	23291	FBXW11	OMIM:618914
HP:0001227	Abnormality of the thenar eminence	2263	FGFR2	OMIM:149730
HP:0001227	Abnormality of the thenar eminence	3209	HOXA13	OMIM:140000
HP:0001227	Abnormality of the thenar eminence	121512	FGD4	OMIM:609311
HP:0009883	Duplication of the distal phalanx of hand	8200	GDF5	ORPHA:93384
HP:0009883	Duplication of the distal phalanx of hand	658	BMPR1B	ORPHA:93384
HP:0009883	Duplication of the distal phalanx of hand	55012	PPP2R3C	OMIM:618419
HP:0009883	Duplication of the distal phalanx of hand	374654	KIF7	OMIM:200990
HP:0009883	Duplication of the distal phalanx of hand	5053	PAH	ORPHA:2209
HP:0009883	Duplication of the distal phalanx of hand	124583	CANT1	OMIM:251450
HP:0009883	Duplication of the distal phalanx of hand	4920	ROR2	OMIM:268310
HP:0009883	Duplication of the distal phalanx of hand	7474	WNT5A	OMIM:180700
HP:0009883	Duplication of the distal phalanx of hand	1855	DVL1	OMIM:180700
HP:0009883	Duplication of the distal phalanx of hand	2263	FGFR2	OMIM:101400
HP:0009883	Duplication of the distal phalanx of hand	7291	TWIST1	OMIM:101400
HP:0009883	Duplication of the distal phalanx of hand	23592	LEMD3	ORPHA:1879
HP:0004446	Stomatocytosis	2035	EPB41	ORPHA:288
HP:0004446	Stomatocytosis	2995	GYPC	ORPHA:288
HP:0004446	Stomatocytosis	6710	SPTB	ORPHA:288
HP:0004446	Stomatocytosis	6708	SPTA1	ORPHA:288
HP:0004446	Stomatocytosis	6005	RHAG	OMIM:185000
HP:0004446	Stomatocytosis	6005	RHAG	OMIM:268150
HP:0004446	Stomatocytosis	6005	RHAG	ORPHA:3203
HP:0004446	Stomatocytosis	6005	RHAG	ORPHA:71275
HP:0004446	Stomatocytosis	2811	GP1BA	OMIM:153670
HP:0004446	Stomatocytosis	6521	SLC4A1	OMIM:185020
HP:0004446	Stomatocytosis	5277	PIGA	OMIM:300868
HP:0004446	Stomatocytosis	6006	RHCE	OMIM:617970
HP:0004446	Stomatocytosis	6006	RHCE	ORPHA:71275
HP:0004446	Stomatocytosis	6513	SLC2A1	OMIM:608885
HP:0004446	Stomatocytosis	6513	SLC2A1	ORPHA:168577
HP:0004446	Stomatocytosis	2623	GATA1	OMIM:301083
HP:0004446	Stomatocytosis	64240	ABCG5	ORPHA:2882
HP:0004446	Stomatocytosis	64241	ABCG8	ORPHA:2882
HP:0004446	Stomatocytosis	64241	ABCG8	OMIM:210250
HP:0004446	Stomatocytosis	10058	ABCB6	ORPHA:90044
HP:0004446	Stomatocytosis	6007	RHD	ORPHA:71275
HP:0004445	Elliptocytosis	2035	EPB41	ORPHA:288
HP:0004445	Elliptocytosis	2035	EPB41	OMIM:611804
HP:0004445	Elliptocytosis	2995	GYPC	ORPHA:288
HP:0004445	Elliptocytosis	6710	SPTB	ORPHA:288
HP:0004445	Elliptocytosis	6710	SPTB	OMIM:617948
HP:0004445	Elliptocytosis	6708	SPTA1	ORPHA:288
HP:0004445	Elliptocytosis	6708	SPTA1	OMIM:266140
HP:0004445	Elliptocytosis	6708	SPTA1	OMIM:130600
HP:0004445	Elliptocytosis	9949	AMMECR1	OMIM:300990
HP:0004445	Elliptocytosis	9949	AMMECR1	ORPHA:86818
HP:0004445	Elliptocytosis	23630	KCNE5	ORPHA:86818
HP:0004445	Elliptocytosis	2182	ACSL4	ORPHA:86818
HP:0004445	Elliptocytosis	374354	NHLRC2	OMIM:618278
HP:0004445	Elliptocytosis	2623	GATA1	OMIM:300835
HP:0004445	Elliptocytosis	51095	TRNT1	OMIM:616959
HP:0004445	Elliptocytosis	760	CA2	ORPHA:2785
HP:0004445	Elliptocytosis	6521	SLC4A1	OMIM:166900
HP:0004444	Spherocytosis	6710	SPTB	OMIM:616649
HP:0004444	Spherocytosis	6710	SPTB	ORPHA:822
HP:0004444	Spherocytosis	6521	SLC4A1	OMIM:612653
HP:0004444	Spherocytosis	6521	SLC4A1	ORPHA:822
HP:0004444	Spherocytosis	286	ANK1	ORPHA:251066
HP:0004444	Spherocytosis	286	ANK1	OMIM:182900
HP:0004444	Spherocytosis	286	ANK1	ORPHA:822
HP:0004444	Spherocytosis	2038	EPB42	OMIM:612690
HP:0004444	Spherocytosis	2038	EPB42	ORPHA:822
HP:0004444	Spherocytosis	6005	RHAG	ORPHA:71275
HP:0004444	Spherocytosis	6006	RHCE	ORPHA:71275
HP:0004444	Spherocytosis	6007	RHD	ORPHA:71275
HP:0004444	Spherocytosis	6708	SPTA1	ORPHA:822
HP:0004444	Spherocytosis	6708	SPTA1	OMIM:270970
HP:0004443	Lambdoidal craniosynostosis	3190	HNRNPK	ORPHA:453504
HP:0004443	Lambdoidal craniosynostosis	3190	HNRNPK	ORPHA:352665
HP:0004443	Lambdoidal craniosynostosis	9401	RECQL4	OMIM:218600
HP:0004443	Lambdoidal craniosynostosis	2077	ERF	OMIM:600775
HP:0004443	Lambdoidal craniosynostosis	267010	RNU12	OMIM:603116
HP:0004443	Lambdoidal craniosynostosis	652	BMP4	OMIM:607932
HP:0004443	Lambdoidal craniosynostosis	9871	SEC24D	OMIM:616294
HP:0004443	Lambdoidal craniosynostosis	51715	RAB23	OMIM:201000
HP:0004443	Lambdoidal craniosynostosis	3590	IL11RA	OMIM:614188
HP:0004443	Lambdoidal craniosynostosis	51604	PIGT	OMIM:615398
HP:0004443	Lambdoidal craniosynostosis	6949	TCOF1	OMIM:154500
HP:0004443	Lambdoidal craniosynostosis	7545	ZIC1	OMIM:618736
HP:0004443	Lambdoidal craniosynostosis	5648	MASP1	OMIM:257920
HP:0004443	Lambdoidal craniosynostosis	57282	SLC4A10	OMIM:620746
HP:0004443	Lambdoidal craniosynostosis	2263	FGFR2	OMIM:207410
HP:0004443	Lambdoidal craniosynostosis	2263	FGFR2	OMIM:101400
HP:0004443	Lambdoidal craniosynostosis	2263	FGFR2	OMIM:123500
HP:0004443	Lambdoidal craniosynostosis	2263	FGFR2	OMIM:101200
HP:0004443	Lambdoidal craniosynostosis	5447	POR	OMIM:207410
HP:0004443	Lambdoidal craniosynostosis	7291	TWIST1	OMIM:101400
HP:0004443	Lambdoidal craniosynostosis	5881	RAC3	OMIM:618577
HP:0004443	Lambdoidal craniosynostosis	3845	KRAS	OMIM:609942
HP:0004442	Sagittal craniosynostosis	2077	ERF	OMIM:600775
HP:0004442	Sagittal craniosynostosis	3190	HNRNPK	OMIM:616580
HP:0004442	Sagittal craniosynostosis	3190	HNRNPK	ORPHA:352665
HP:0004442	Sagittal craniosynostosis	3190	HNRNPK	ORPHA:453504
HP:0004442	Sagittal craniosynostosis	5977	DPF2	OMIM:618027
HP:0004442	Sagittal craniosynostosis	3590	IL11RA	OMIM:614188
HP:0004442	Sagittal craniosynostosis	6651	SON	ORPHA:500150
HP:0004442	Sagittal craniosynostosis	80204	FBXO11	OMIM:618089
HP:0004442	Sagittal craniosynostosis	6938	TCF12	OMIM:615314
HP:0004442	Sagittal craniosynostosis	7291	TWIST1	OMIM:123100
HP:0004442	Sagittal craniosynostosis	1801	DPH1	OMIM:616901
HP:0004442	Sagittal craniosynostosis	1801	DPH1	ORPHA:459061
HP:0004442	Sagittal craniosynostosis	1788	DNMT3A	OMIM:615879
HP:0004442	Sagittal craniosynostosis	3845	KRAS	OMIM:609942
HP:0004442	Sagittal craniosynostosis	2263	FGFR2	OMIM:123500
HP:0004442	Sagittal craniosynostosis	2263	FGFR2	OMIM:101200
HP:0004442	Sagittal craniosynostosis	526	ATP6V1B2	ORPHA:79500
HP:0004442	Sagittal craniosynostosis	57465	TBC1D24	ORPHA:79500
HP:0004442	Sagittal craniosynostosis	55764	IFT122	OMIM:218330
HP:0004442	Sagittal craniosynostosis	9401	RECQL4	OMIM:218600
HP:0004442	Sagittal craniosynostosis	267010	RNU12	OMIM:603116
HP:0004442	Sagittal craniosynostosis	51715	RAB23	OMIM:201000
HP:0004442	Sagittal craniosynostosis	8318	CDC45	OMIM:617063
HP:0004442	Sagittal craniosynostosis	112752	IFT43	OMIM:614099
HP:0004442	Sagittal craniosynostosis	57728	WDR19	OMIM:614378
HP:0004442	Sagittal craniosynostosis	23384	SPECC1L	OMIM:145420
HP:0004442	Sagittal craniosynostosis	169792	GLIS3	OMIM:610199
HP:0004442	Sagittal craniosynostosis	1974	EIF4A2	OMIM:620455
HP:0004442	Sagittal craniosynostosis	1802	DPH2	ORPHA:459061
HP:0004439	Craniofacial dysostosis	2263	FGFR2	OMIM:123500
HP:0004439	Craniofacial dysostosis	3590	IL11RA	OMIM:614188
HP:0004439	Craniofacial dysostosis	9533	POLR1C	OMIM:248390
HP:0004439	Craniofacial dysostosis	1909	EDNRA	OMIM:616367
HP:0004439	Craniofacial dysostosis	6231	RPS26	OMIM:613309
HP:0004439	Craniofacial dysostosis	9343	EFTUD2	OMIM:610536
HP:0004439	Craniofacial dysostosis	29957	SLC25A24	ORPHA:2095
HP:0004439	Craniofacial dysostosis	4488	MSX2	ORPHA:60015
HP:0004439	Craniofacial dysostosis	60529	ALX4	ORPHA:60015
HP:0004438	Hyperostosis frontalis interna	7840	ALMS1	ORPHA:64
HP:0004438	Hyperostosis frontalis interna	7840	ALMS1	OMIM:203800
HP:0004438	Hyperostosis frontalis interna	2778	GNAS	ORPHA:79443
HP:0003261	Increased circulating IgA concentration	355	FAS	ORPHA:3261
HP:0003261	Increased circulating IgA concentration	355	FAS	OMIM:601859
HP:0003261	Increased circulating IgA concentration	356	FASLG	ORPHA:3261
HP:0003261	Increased circulating IgA concentration	356	FASLG	OMIM:601859
HP:0003261	Increased circulating IgA concentration	843	CASP10	ORPHA:3261
HP:0003261	Increased circulating IgA concentration	843	CASP10	OMIM:603909
HP:0003261	Increased circulating IgA concentration	7454	WAS	OMIM:301000
HP:0003261	Increased circulating IgA concentration	7454	WAS	OMIM:313900
HP:0003261	Increased circulating IgA concentration	90268	OTULIN	OMIM:617099
HP:0003261	Increased circulating IgA concentration	595	CCND1	ORPHA:29073
HP:0003261	Increased circulating IgA concentration	29775	CARD10	OMIM:619632
HP:0003261	Increased circulating IgA concentration	51371	POMP	OMIM:618048
HP:0003261	Increased circulating IgA concentration	8517	IKBKG	OMIM:300636
HP:0003261	Increased circulating IgA concentration	8517	IKBKG	OMIM:300291
HP:0003261	Increased circulating IgA concentration	919	CD247	OMIM:610163
HP:0003261	Increased circulating IgA concentration	4598	MVK	OMIM:260920
HP:0003261	Increased circulating IgA concentration	4598	MVK	ORPHA:343
HP:0003261	Increased circulating IgA concentration	6786	STIM1	OMIM:612783
HP:0003261	Increased circulating IgA concentration	5238	PGM3	ORPHA:443811
HP:0003261	Increased circulating IgA concentration	340061	STING1	OMIM:615934
HP:0003261	Increased circulating IgA concentration	3659	IRF1	OMIM:620668
HP:0003261	Increased circulating IgA concentration	10092	ARPC5	OMIM:620565
HP:0003261	Increased circulating IgA concentration	959	CD40LG	OMIM:308230
HP:0003261	Increased circulating IgA concentration	3575	IL7R	ORPHA:169154
HP:0003261	Increased circulating IgA concentration	3594	IL12RB1	ORPHA:186
HP:0003261	Increased circulating IgA concentration	23534	TNPO3	ORPHA:186
HP:0003261	Increased circulating IgA concentration	3592	IL12A	ORPHA:186
HP:0003261	Increased circulating IgA concentration	6689	SPIB	ORPHA:186
HP:0003261	Increased circulating IgA concentration	5450	POU2AF1	ORPHA:186
HP:0003261	Increased circulating IgA concentration	9966	TNFSF15	ORPHA:186
HP:0003261	Increased circulating IgA concentration	79258	MMEL1	ORPHA:186
HP:0003261	Increased circulating IgA concentration	3663	IRF5	ORPHA:186
HP:0003261	Increased circulating IgA concentration	404672	GTF2H5	OMIM:616395
HP:0003261	Increased circulating IgA concentration	22861	NLRP1	OMIM:617388
HP:0003261	Increased circulating IgA concentration	10125	RASGRP1	OMIM:618534
HP:0003261	Increased circulating IgA concentration	29927	SEC61A1	OMIM:620674
HP:0003261	Increased circulating IgA concentration	5696	PSMB8	OMIM:256040
HP:0008527	Congenital sensorineural hearing impairment	3479	IGF1	ORPHA:73272
HP:0008527	Congenital sensorineural hearing impairment	2260	FGFR1	ORPHA:432
HP:0008527	Congenital sensorineural hearing impairment	81848	SPRY4	ORPHA:432
HP:0008527	Congenital sensorineural hearing impairment	128674	PROKR2	ORPHA:432
HP:0008527	Congenital sensorineural hearing impairment	2253	FGF8	ORPHA:432
HP:0008527	Congenital sensorineural hearing impairment	60675	PROK2	ORPHA:432
HP:0008527	Congenital sensorineural hearing impairment	55636	CHD7	ORPHA:432
HP:0008527	Congenital sensorineural hearing impairment	6870	TACR3	ORPHA:432
HP:0008527	Congenital sensorineural hearing impairment	1848	DUSP6	ORPHA:432
HP:0008527	Congenital sensorineural hearing impairment	26012	NSMF	ORPHA:432
HP:0008527	Congenital sensorineural hearing impairment	55717	WDR11	ORPHA:432
HP:0008527	Congenital sensorineural hearing impairment	4808	NHLH2	ORPHA:432
HP:0008527	Congenital sensorineural hearing impairment	9394	HS6ST1	ORPHA:432
HP:0008527	Congenital sensorineural hearing impairment	2796	GNRH1	ORPHA:432
HP:0008527	Congenital sensorineural hearing impairment	2798	GNRHR	ORPHA:432
HP:0008527	Congenital sensorineural hearing impairment	84634	KISS1R	ORPHA:432
HP:0008527	Congenital sensorineural hearing impairment	6866	TAC3	ORPHA:432
HP:0008527	Congenital sensorineural hearing impairment	8822	FGF17	ORPHA:432
HP:0008527	Congenital sensorineural hearing impairment	3814	KISS1	ORPHA:432
HP:0008527	Congenital sensorineural hearing impairment	5077	PAX3	ORPHA:894
HP:0008527	Congenital sensorineural hearing impairment	5077	PAX3	OMIM:193500
HP:0008527	Congenital sensorineural hearing impairment	51241	COX16	OMIM:619355
HP:0008527	Congenital sensorineural hearing impairment	80000	GREB1L	OMIM:619274
HP:0008527	Congenital sensorineural hearing impairment	51081	MRPS7	OMIM:617872
HP:0008527	Congenital sensorineural hearing impairment	220074	LRTOMT	OMIM:611451
HP:0008527	Congenital sensorineural hearing impairment	4919	ROR1	OMIM:617654
HP:0008527	Congenital sensorineural hearing impairment	5879	RAC1	ORPHA:500159
HP:0008527	Congenital sensorineural hearing impairment	55605	KIF21A	ORPHA:45358
HP:0008527	Congenital sensorineural hearing impairment	347733	TUBB2B	ORPHA:45358
HP:0008527	Congenital sensorineural hearing impairment	7846	TUBA1A	ORPHA:45358
HP:0008527	Congenital sensorineural hearing impairment	401	PHOX2A	ORPHA:45358
HP:0008527	Congenital sensorineural hearing impairment	10381	TUBB3	ORPHA:45358
HP:0008527	Congenital sensorineural hearing impairment	84570	COL25A1	ORPHA:45358
HP:0008527	Congenital sensorineural hearing impairment	5631	PRPS1	ORPHA:1187
HP:0008527	Congenital sensorineural hearing impairment	3753	KCNE1	OMIM:612347
HP:0008527	Congenital sensorineural hearing impairment	253738	EBF3	ORPHA:96148
HP:0008527	Congenital sensorineural hearing impairment	3766	KCNJ10	OMIM:274600
HP:0008527	Congenital sensorineural hearing impairment	2299	FOXI1	OMIM:274600
HP:0008527	Congenital sensorineural hearing impairment	5172	SLC26A4	OMIM:274600
HP:0008527	Congenital sensorineural hearing impairment	2706	GJB2	ORPHA:2698
HP:0008527	Congenital sensorineural hearing impairment	2706	GJB2	OMIM:304400
HP:0008527	Congenital sensorineural hearing impairment	3784	KCNQ1	OMIM:220400
HP:0008527	Congenital sensorineural hearing impairment	5456	POU3F4	OMIM:304400
HP:0008527	Congenital sensorineural hearing impairment	10804	GJB6	OMIM:304400
HP:0008527	Congenital sensorineural hearing impairment	7399	USH2A	OMIM:276901
HP:0008527	Congenital sensorineural hearing impairment	79955	PDZD7	OMIM:276901
HP:0008527	Congenital sensorineural hearing impairment	79955	PDZD7	OMIM:605472
HP:0008527	Congenital sensorineural hearing impairment	5961	PRPH2	ORPHA:52427
HP:0008527	Congenital sensorineural hearing impairment	6017	RLBP1	ORPHA:52427
HP:0008527	Congenital sensorineural hearing impairment	6010	RHO	ORPHA:52427
HP:0008527	Congenital sensorineural hearing impairment	5959	RDH5	ORPHA:52427
HP:0008527	Congenital sensorineural hearing impairment	10083	USH1C	OMIM:276904
HP:0008527	Congenital sensorineural hearing impairment	54845	ESRP1	OMIM:618013
HP:0008527	Congenital sensorineural hearing impairment	3735	KARS1	OMIM:619147
HP:0008527	Congenital sensorineural hearing impairment	7466	WFS1	ORPHA:411590
HP:0008527	Congenital sensorineural hearing impairment	6885	MAP3K7	OMIM:157800
HP:0008527	Congenital sensorineural hearing impairment	4254	KITLG	OMIM:619947
HP:0008527	Congenital sensorineural hearing impairment	4286	MITF	OMIM:103500
HP:0008527	Congenital sensorineural hearing impairment	4286	MITF	OMIM:617306
HP:0008527	Congenital sensorineural hearing impairment	65217	PCDH15	OMIM:602083
HP:0008527	Congenital sensorineural hearing impairment	8942	KYNU	ORPHA:79155
HP:0008527	Congenital sensorineural hearing impairment	84059	ADGRV1	OMIM:605472
HP:0009748	Large earlobe	2245	FGD1	OMIM:305400
HP:0009748	Large earlobe	23013	SPEN	OMIM:619312
HP:0009748	Large earlobe	10785	WDR4	OMIM:618346
HP:0009748	Large earlobe	9320	TRIP12	OMIM:617752
HP:0009748	Large earlobe	55023	PHIP	OMIM:617991
HP:0009748	Large earlobe	26047	CNTNAP2	OMIM:610042
HP:0009748	Large earlobe	4853	NOTCH2	OMIM:102500
HP:0009748	Large earlobe	51002	TPRKB	OMIM:617731
HP:0009748	Large earlobe	55275	VPS53	OMIM:615851
HP:0009748	Large earlobe	673	BRAF	OMIM:115150
HP:0009748	Large earlobe	673	BRAF	OMIM:613706
HP:0009748	Large earlobe	1968	EIF2S3	ORPHA:85282
HP:0009748	Large earlobe	5361	PLXNA1	OMIM:619955
HP:0009748	Large earlobe	85440	DOCK7	ORPHA:411986
HP:0009748	Large earlobe	1836	SLC26A2	ORPHA:628
HP:0009748	Large earlobe	93210	PGAP3	OMIM:615716
HP:0009748	Large earlobe	84295	PHF6	ORPHA:127
HP:0009748	Large earlobe	9839	ZEB2	OMIM:235730
HP:0009748	Large earlobe	84992	PIGY	OMIM:616809
HP:0009748	Large earlobe	64093	SMOC1	ORPHA:1106
HP:0009748	Large earlobe	55593	OTUD5	OMIM:301056
HP:0009748	Large earlobe	3265	HRAS	ORPHA:3071
HP:0009748	Large earlobe	283209	PGM2L1	OMIM:620191
HP:0009748	Large earlobe	5290	PIK3CA	OMIM:602501
HP:0009748	Large earlobe	1718	DHCR24	ORPHA:35107
HP:0009748	Large earlobe	29998	BICRA	OMIM:619325
HP:0009748	Large earlobe	51506	UFC1	OMIM:618076
HP:0009748	Large earlobe	7358	UGDH	OMIM:618792
HP:0009748	Large earlobe	7543	ZFX	OMIM:301118
HP:0009748	Large earlobe	1806	DPYD	ORPHA:1675
HP:0009748	Large earlobe	7453	WARS1	OMIM:620317
HP:0009748	Large earlobe	1009	CDH11	ORPHA:1299
HP:0009748	Large earlobe	9772	TMEM94	OMIM:618316
HP:0009748	Large earlobe	2006	ELN	OMIM:194050
HP:0009748	Large earlobe	51085	MLXIPL	OMIM:194050
HP:0009748	Large earlobe	9343	EFTUD2	ORPHA:79113
HP:0009748	Large earlobe	26040	SETBP1	ORPHA:798
HP:0009748	Large earlobe	2697	GJA1	OMIM:257850
HP:0009748	Large earlobe	8085	KMT2D	OMIM:147920
HP:0009748	Large earlobe	7403	KDM6A	OMIM:147920
HP:0004454	Abnormal middle ear reflexes	9131	AIFM1	OMIM:300614
HP:0004454	Abnormal middle ear reflexes	9692	PRORP	OMIM:619737
HP:0004454	Abnormal middle ear reflexes	81624	DIAPH3	OMIM:609129
HP:0004454	Abnormal middle ear reflexes	9381	OTOF	OMIM:601071
HP:0004454	Abnormal middle ear reflexes	2300	FOXL1	OMIM:620576
HP:0004454	Abnormal middle ear reflexes	9526	MPDU1	ORPHA:79323
HP:0004453	Overfolding of the superior helices	5332	PLCB4	OMIM:614669
HP:0004453	Overfolding of the superior helices	6299	SALL1	OMIM:107480
HP:0004453	Overfolding of the superior helices	2263	FGFR2	ORPHA:313855
HP:0004453	Overfolding of the superior helices	29998	BICRA	OMIM:619325
HP:0004453	Overfolding of the superior helices	2773	GNAI3	OMIM:602483
HP:0004452	Abnormality of the middle ear ossicles	5718	PSMD12	ORPHA:529962
HP:0004452	Abnormality of the middle ear ossicles	2186	BPTF	ORPHA:529962
HP:0004452	Abnormality of the middle ear ossicles	392255	GDF6	OMIM:617898
HP:0004452	Abnormality of the middle ear ossicles	3423	IDS	ORPHA:217085
HP:0004452	Abnormality of the middle ear ossicles	3423	IDS	ORPHA:217093
HP:0004452	Abnormality of the middle ear ossicles	1277	COL1A1	OMIM:166220
HP:0004452	Abnormality of the middle ear ossicles	1277	COL1A1	OMIM:166200
HP:0004452	Abnormality of the middle ear ossicles	1278	COL1A2	OMIM:166220
HP:0004452	Abnormality of the middle ear ossicles	2300	FOXL1	OMIM:620576
HP:0004452	Abnormality of the middle ear ossicles	6597	SMARCA4	OMIM:620792
HP:0004452	Abnormality of the middle ear ossicles	9241	NOG	OMIM:186500
HP:0004452	Abnormality of the middle ear ossicles	9241	NOG	OMIM:184460
HP:0004452	Abnormality of the middle ear ossicles	9241	NOG	OMIM:185800
HP:0004452	Abnormality of the middle ear ossicles	5456	POU3F4	OMIM:304400
HP:0004452	Abnormality of the middle ear ossicles	5456	POU3F4	ORPHA:1435
HP:0004452	Abnormality of the middle ear ossicles	2706	GJB2	OMIM:304400
HP:0004452	Abnormality of the middle ear ossicles	10804	GJB6	OMIM:304400
HP:0004452	Abnormality of the middle ear ossicles	5885	RAD21	OMIM:614701
HP:0004452	Abnormality of the middle ear ossicles	3590	IL11RA	OMIM:614188
HP:0004452	Abnormality of the middle ear ossicles	5167	ENPP1	ORPHA:51608
HP:0004452	Abnormality of the middle ear ossicles	368	ABCC6	ORPHA:51608
HP:0004452	Abnormality of the middle ear ossicles	4854	NOTCH3	OMIM:130720
HP:0004452	Abnormality of the middle ear ossicles	4854	NOTCH3	ORPHA:2789
HP:0004452	Abnormality of the middle ear ossicles	2138	EYA1	ORPHA:107
HP:0004452	Abnormality of the middle ear ossicles	147912	SIX5	ORPHA:107
HP:0004452	Abnormality of the middle ear ossicles	6495	SIX1	ORPHA:107
HP:0004452	Abnormality of the middle ear ossicles	7020	TFAP2A	OMIM:113620
HP:0004452	Abnormality of the middle ear ossicles	51082	POLR1D	OMIM:613717
HP:0004452	Abnormality of the middle ear ossicles	6885	MAP3K7	OMIM:157800
HP:0004452	Abnormality of the middle ear ossicles	26040	SETBP1	ORPHA:798
HP:0004452	Abnormality of the middle ear ossicles	10735	STAG2	OMIM:301022
HP:0004452	Abnormality of the middle ear ossicles	56172	ANKH	OMIM:123000
HP:0004451	Postauricular skin tag	5332	PLCB4	OMIM:620458
HP:0004451	Postauricular skin tag	9734	HDAC9	OMIM:620457
HP:0004451	Postauricular skin tag	2773	GNAI3	OMIM:602483
HP:0004450	Preauricular skin furrow	2263	FGFR2	ORPHA:1555
HP:0004450	Preauricular skin furrow	2263	FGFR2	OMIM:123790
HP:0004448	Fulminant hepatic failure	3033	HADH	OMIM:231530
HP:0004448	Fulminant hepatic failure	11232	POLG2	OMIM:618528
HP:0004448	Fulminant hepatic failure	85476	GFM1	OMIM:609060
HP:0004448	Fulminant hepatic failure	10068	IL18BP	OMIM:618549
HP:0004448	Fulminant hepatic failure	3875	KRT18	OMIM:215600
HP:0004448	Fulminant hepatic failure	4068	SH2D1A	OMIM:308240
HP:0004448	Fulminant hepatic failure	331	XIAP	OMIM:308240
HP:0001230	Broad metacarpals	4313	MMP2	ORPHA:371428
HP:0001230	Broad metacarpals	4313	MMP2	OMIM:259600
HP:0001230	Broad metacarpals	4323	MMP14	ORPHA:371428
HP:0001230	Broad metacarpals	4323	MMP14	OMIM:277950
HP:0001230	Broad metacarpals	2137	EXTL3	ORPHA:508533
HP:0001230	Broad metacarpals	1836	SLC26A2	ORPHA:56304
HP:0001230	Broad metacarpals	4921	DDR2	OMIM:271665
HP:0001230	Broad metacarpals	2200	FBN1	OMIM:608328
HP:0001230	Broad metacarpals	4882	NPR2	OMIM:602875
HP:0001230	Broad metacarpals	7030	TFE3	OMIM:301066
HP:0001230	Broad metacarpals	633	BGN	OMIM:300106
HP:0001230	Broad metacarpals	9742	IFT140	OMIM:266920
HP:0001230	Broad metacarpals	5144	PDE4D	ORPHA:439822
HP:0001230	Broad metacarpals	2260	FGFR1	OMIM:166250
HP:0001230	Broad metacarpals	1788	DNMT3A	OMIM:618724
HP:0001230	Broad metacarpals	2720	GLB1	ORPHA:79255
HP:0001230	Broad metacarpals	3549	IHH	ORPHA:93388
HP:0001230	Broad metacarpals	8200	GDF5	ORPHA:93388
HP:0001230	Broad metacarpals	658	BMPR1B	ORPHA:93388
HP:0001230	Broad metacarpals	81794	ADAMTS10	OMIM:277600
HP:0001230	Broad metacarpals	2778	GNAS	ORPHA:79443
HP:0001231	Abnormal fingernail morphology	3981	LIG4	ORPHA:235
HP:0001231	Abnormal fingernail morphology	54888	NSUN2	ORPHA:235
HP:0001231	Abnormal fingernail morphology	6804	STX1A	ORPHA:904
HP:0001231	Abnormal fingernail morphology	7461	CLIP2	ORPHA:904
HP:0001231	Abnormal fingernail morphology	84277	DNAJC30	ORPHA:904
HP:0001231	Abnormal fingernail morphology	8468	FKBP6	ORPHA:904
HP:0001231	Abnormal fingernail morphology	5982	RFC2	ORPHA:904
HP:0001231	Abnormal fingernail morphology	2969	GTF2I	ORPHA:904
HP:0001231	Abnormal fingernail morphology	3984	LIMK1	ORPHA:904
HP:0001231	Abnormal fingernail morphology	9569	GTF2IRD1	ORPHA:904
HP:0001231	Abnormal fingernail morphology	155382	VPS37D	ORPHA:904
HP:0001231	Abnormal fingernail morphology	155368	METTL27	ORPHA:904
HP:0001231	Abnormal fingernail morphology	114049	BUD23	ORPHA:904
HP:0001231	Abnormal fingernail morphology	7458	EIF4H	ORPHA:904
HP:0001231	Abnormal fingernail morphology	84163	GTF2IRD2	ORPHA:904
HP:0001231	Abnormal fingernail morphology	26608	TBL2	ORPHA:904
HP:0001231	Abnormal fingernail morphology	653361	NCF1	ORPHA:904
HP:0001231	Abnormal fingernail morphology	135886	TMEM270	ORPHA:904
HP:0001231	Abnormal fingernail morphology	9031	BAZ1B	ORPHA:904
HP:0001231	Abnormal fingernail morphology	2006	ELN	ORPHA:904
HP:0001231	Abnormal fingernail morphology	2767	GNA11	ORPHA:428
HP:0001231	Abnormal fingernail morphology	846	CASR	ORPHA:428
HP:0001231	Abnormal fingernail morphology	5189	PEX1	ORPHA:3220
HP:0001231	Abnormal fingernail morphology	5190	PEX6	ORPHA:3220
HP:0001231	Abnormal fingernail morphology	3636	INPPL1	ORPHA:3144
HP:0001231	Abnormal fingernail morphology	23169	SLC35D1	ORPHA:3144
HP:0001231	Abnormal fingernail morphology	56983	POGLUT1	ORPHA:79145
HP:0001231	Abnormal fingernail morphology	3852	KRT5	ORPHA:79145
HP:0001231	Abnormal fingernail morphology	23509	POFUT1	ORPHA:79145
HP:0001231	Abnormal fingernail morphology	55851	PSENEN	ORPHA:79145
HP:0001231	Abnormal fingernail morphology	5184	PEPD	ORPHA:742
HP:0001231	Abnormal fingernail morphology	526	ATP6V1B2	ORPHA:79500
HP:0001231	Abnormal fingernail morphology	57465	TBC1D24	ORPHA:79500
HP:0001231	Abnormal fingernail morphology	54790	TET2	ORPHA:75564
HP:0001231	Abnormal fingernail morphology	23451	SF3B1	ORPHA:75564
HP:0001231	Abnormal fingernail morphology	8517	IKBKG	ORPHA:464
HP:0001231	Abnormal fingernail morphology	27125	AFF4	ORPHA:444077
HP:0001231	Abnormal fingernail morphology	9555	MACROH2A1	ORPHA:1275
HP:0001231	Abnormal fingernail morphology	5307	PITX1	ORPHA:1275
HP:0001231	Abnormal fingernail morphology	51360	MBTPS2	ORPHA:659
HP:0001231	Abnormal fingernail morphology	162514	TRPV3	ORPHA:659
HP:0001231	Abnormal fingernail morphology	64065	PERP	ORPHA:659
HP:0001231	Abnormal fingernail morphology	8200	GDF5	ORPHA:93384
HP:0001231	Abnormal fingernail morphology	658	BMPR1B	ORPHA:93384
HP:0001231	Abnormal fingernail morphology	326	AIRE	ORPHA:3453
HP:0001231	Abnormal fingernail morphology	1294	COL7A1	ORPHA:79410
HP:0001231	Abnormal fingernail morphology	57539	WDR35	ORPHA:1515
HP:0001231	Abnormal fingernail morphology	112752	IFT43	ORPHA:1515
HP:0001231	Abnormal fingernail morphology	51098	IFT52	ORPHA:1515
HP:0001231	Abnormal fingernail morphology	55764	IFT122	ORPHA:1515
HP:0001231	Abnormal fingernail morphology	57728	WDR19	ORPHA:1515
HP:0001231	Abnormal fingernail morphology	6926	TBX3	ORPHA:3138
HP:0001231	Abnormal fingernail morphology	3861	KRT14	ORPHA:89838
HP:0001231	Abnormal fingernail morphology	284252	KCTD1	ORPHA:2036
HP:0001231	Abnormal fingernail morphology	3868	KRT16	ORPHA:2199
HP:0001231	Abnormal fingernail morphology	3857	KRT9	ORPHA:2199
HP:0001231	Abnormal fingernail morphology	3848	KRT1	ORPHA:2199
HP:0001231	Abnormal fingernail morphology	128178	EDARADD	ORPHA:248
HP:0001231	Abnormal fingernail morphology	128178	EDARADD	ORPHA:1810
HP:0001231	Abnormal fingernail morphology	80326	WNT10A	ORPHA:248
HP:0001231	Abnormal fingernail morphology	10913	EDAR	ORPHA:248
HP:0001231	Abnormal fingernail morphology	10913	EDAR	ORPHA:1810
HP:0001231	Abnormal fingernail morphology	1476	CSTB	ORPHA:248
HP:0001231	Abnormal fingernail morphology	3248	HPGD	ORPHA:2796
HP:0001231	Abnormal fingernail morphology	6578	SLCO2A1	ORPHA:2796
HP:0001231	Abnormal fingernail morphology	2697	GJA1	ORPHA:2710
HP:0001231	Abnormal fingernail morphology	64324	NSD1	ORPHA:3447
HP:0001231	Abnormal fingernail morphology	23512	SUZ12	ORPHA:3447
HP:0001231	Abnormal fingernail morphology	2146	EZH2	ORPHA:3447
HP:0001231	Abnormal fingernail morphology	5083	PAX9	OMIM:604625
HP:0001231	Abnormal fingernail morphology	3265	HRAS	ORPHA:3071
HP:0001231	Abnormal fingernail morphology	5566	PRKACA	ORPHA:289
HP:0001231	Abnormal fingernail morphology	5567	PRKACB	ORPHA:289
HP:0001231	Abnormal fingernail morphology	2735	GLI1	ORPHA:289
HP:0001231	Abnormal fingernail morphology	2121	EVC	ORPHA:289
HP:0001231	Abnormal fingernail morphology	2121	EVC	ORPHA:952
HP:0001231	Abnormal fingernail morphology	51626	DYNC2LI1	ORPHA:289
HP:0001231	Abnormal fingernail morphology	132884	EVC2	ORPHA:289
HP:0001231	Abnormal fingernail morphology	132884	EVC2	ORPHA:952
HP:0001231	Abnormal fingernail morphology	80169	CTC1	ORPHA:1775
HP:0001231	Abnormal fingernail morphology	26277	TINF2	ORPHA:1775
HP:0001231	Abnormal fingernail morphology	55651	NHP2	ORPHA:1775
HP:0001231	Abnormal fingernail morphology	79650	USB1	ORPHA:1775
HP:0001231	Abnormal fingernail morphology	55135	WRAP53	ORPHA:1775
HP:0001231	Abnormal fingernail morphology	51750	RTEL1	ORPHA:1775
HP:0001231	Abnormal fingernail morphology	4869	NPM1	ORPHA:1775
HP:0001231	Abnormal fingernail morphology	7012	TERC	ORPHA:1775
HP:0001231	Abnormal fingernail morphology	55505	NOP10	ORPHA:1775
HP:0001231	Abnormal fingernail morphology	5073	PARN	ORPHA:1775
HP:0001231	Abnormal fingernail morphology	7015	TERT	ORPHA:1775
HP:0001231	Abnormal fingernail morphology	1736	DKC1	ORPHA:1775
HP:0001231	Abnormal fingernail morphology	7298	TYMS	ORPHA:1775
HP:0001231	Abnormal fingernail morphology	8036	SHOC2	ORPHA:2701
HP:0001231	Abnormal fingernail morphology	5500	PPP1CB	ORPHA:2701
HP:0001231	Abnormal fingernail morphology	84818	IL17RC	ORPHA:1334
HP:0001231	Abnormal fingernail morphology	64581	CLEC7A	ORPHA:1334
HP:0001231	Abnormal fingernail morphology	23765	IL17RA	ORPHA:1334
HP:0001231	Abnormal fingernail morphology	10758	TRAF3IP2	ORPHA:1334
HP:0001231	Abnormal fingernail morphology	112744	IL17F	ORPHA:1334
HP:0001231	Abnormal fingernail morphology	5333	PLCD1	ORPHA:2387
HP:0001231	Abnormal fingernail morphology	4853	NOTCH2	ORPHA:955
HP:0001231	Abnormal fingernail morphology	7189	TRAF6	ORPHA:1810
HP:0001231	Abnormal fingernail morphology	126695	KDF1	ORPHA:1810
HP:0001231	Abnormal fingernail morphology	4487	MSX1	ORPHA:2228
HP:0001231	Abnormal fingernail morphology	1075	CTSC	ORPHA:678
HP:0001231	Abnormal fingernail morphology	5339	PLEC	ORPHA:257
HP:0001231	Abnormal fingernail morphology	6197	RPS6KA3	ORPHA:192
HP:0001231	Abnormal fingernail morphology	5281	PIGF	OMIM:619356
HP:0001231	Abnormal fingernail morphology	57061	HYMAI	ORPHA:96191
HP:0001231	Abnormal fingernail morphology	5325	PLAGL1	ORPHA:96191
HP:0001231	Abnormal fingernail morphology	9791	PTDSS1	ORPHA:2658
HP:0001231	Abnormal fingernail morphology	23556	PIGN	ORPHA:2059
HP:0001231	Abnormal fingernail morphology	23556	PIGN	ORPHA:280633
HP:0001231	Abnormal fingernail morphology	23219	FBXO28	OMIM:619777
HP:0001231	Abnormal fingernail morphology	80152	CENPT	OMIM:618702
HP:0001231	Abnormal fingernail morphology	84720	PIGO	OMIM:614749
HP:0001231	Abnormal fingernail morphology	90459	ERI1	OMIM:620662
HP:0001231	Abnormal fingernail morphology	9897	WASHC5	ORPHA:7
HP:0001231	Abnormal fingernail morphology	28952	CCDC22	ORPHA:7
HP:0001231	Abnormal fingernail morphology	57020	VPS35L	ORPHA:7
HP:0001231	Abnormal fingernail morphology	56896	DPYSL5	ORPHA:7
HP:0001231	Abnormal fingernail morphology	7020	TFAP2A	OMIM:113620
HP:0001231	Abnormal fingernail morphology	6473	SHOX	ORPHA:240
HP:0001231	Abnormal fingernail morphology	117581	TWIST2	OMIM:200110
HP:0001231	Abnormal fingernail morphology	1301	COL11A1	OMIM:228520
HP:0001231	Abnormal fingernail morphology	1301	COL11A1	ORPHA:2021
HP:0001231	Abnormal fingernail morphology	4920	ROR2	OMIM:113000
HP:0001231	Abnormal fingernail morphology	3481	IGF2	ORPHA:397590
HP:0001231	Abnormal fingernail morphology	1028	CDKN1C	ORPHA:397590
HP:0001231	Abnormal fingernail morphology	5324	PLAG1	ORPHA:397590
HP:0001231	Abnormal fingernail morphology	8091	HMGA2	ORPHA:397590
HP:0001231	Abnormal fingernail morphology	2263	FGFR2	OMIM:123790
HP:0001231	Abnormal fingernail morphology	1302	COL11A2	ORPHA:2021
HP:0001231	Abnormal fingernail morphology	3756	KCNH1	ORPHA:3473
HP:0001231	Abnormal fingernail morphology	3756	KCNH1	ORPHA:420561
HP:0001231	Abnormal fingernail morphology	3782	KCNN3	ORPHA:3473
HP:0001231	Abnormal fingernail morphology	3516	RBPJ	ORPHA:974
HP:0001231	Abnormal fingernail morphology	4851	NOTCH1	ORPHA:974
HP:0001231	Abnormal fingernail morphology	57514	ARHGAP31	ORPHA:974
HP:0001231	Abnormal fingernail morphology	57572	DOCK6	ORPHA:974
HP:0001231	Abnormal fingernail morphology	285203	EOGT	ORPHA:974
HP:0001231	Abnormal fingernail morphology	54567	DLL4	ORPHA:974
HP:0001231	Abnormal fingernail morphology	58499	ZNF462	OMIM:618619
HP:0001231	Abnormal fingernail morphology	168667	BMPER	OMIM:608022
HP:0001231	Abnormal fingernail morphology	6335	SCN9A	ORPHA:970
HP:0001231	Abnormal fingernail morphology	65125	WNK1	ORPHA:970
HP:0001231	Abnormal fingernail morphology	54463	RETREG1	ORPHA:970
HP:0001231	Abnormal fingernail morphology	547	KIF1A	ORPHA:970
HP:0001231	Abnormal fingernail morphology	5317	PKP1	OMIM:604536
HP:0001231	Abnormal fingernail morphology	6774	STAT3	ORPHA:2314
HP:0001231	Abnormal fingernail morphology	5604	MAP2K1	ORPHA:1340
HP:0001231	Abnormal fingernail morphology	5605	MAP2K2	ORPHA:1340
HP:0001231	Abnormal fingernail morphology	3845	KRAS	ORPHA:1340
HP:0001231	Abnormal fingernail morphology	673	BRAF	ORPHA:1340
HP:0001231	Abnormal fingernail morphology	404672	GTF2H5	ORPHA:33364
HP:0001231	Abnormal fingernail morphology	833	CARS1	ORPHA:33364
HP:0001231	Abnormal fingernail morphology	2068	ERCC2	ORPHA:33364
HP:0001231	Abnormal fingernail morphology	7737	RNF113A	ORPHA:33364
HP:0001231	Abnormal fingernail morphology	136647	MPLKIP	ORPHA:33364
HP:0001231	Abnormal fingernail morphology	6897	TARS1	ORPHA:33364
HP:0001231	Abnormal fingernail morphology	16	AARS1	ORPHA:33364
HP:0001231	Abnormal fingernail morphology	2071	ERCC3	ORPHA:33364
HP:0001231	Abnormal fingernail morphology	2961	GTF2E2	ORPHA:33364
HP:0001231	Abnormal fingernail morphology	121391	KRT74	OMIM:614929
HP:0001231	Abnormal fingernail morphology	4000	LMNA	ORPHA:740
HP:0001231	Abnormal fingernail morphology	10269	ZMPSTE24	ORPHA:740
HP:0001231	Abnormal fingernail morphology	26137	ZBTB20	OMIM:259050
HP:0001231	Abnormal fingernail morphology	3106	HLA-B	ORPHA:29207
HP:0001231	Abnormal fingernail morphology	1308	COL17A1	OMIM:619787
HP:0001231	Abnormal fingernail morphology	1308	COL17A1	ORPHA:251393
HP:0001231	Abnormal fingernail morphology	860	RUNX2	ORPHA:1452
HP:0001231	Abnormal fingernail morphology	5818	NECTIN1	ORPHA:3253
HP:0001231	Abnormal fingernail morphology	3691	ITGB4	ORPHA:251393
HP:0001231	Abnormal fingernail morphology	6597	SMARCA4	ORPHA:1465
HP:0001231	Abnormal fingernail morphology	6598	SMARCB1	ORPHA:1465
HP:0001231	Abnormal fingernail morphology	6659	SOX4	ORPHA:1465
HP:0001231	Abnormal fingernail morphology	8289	ARID1A	ORPHA:1465
HP:0001231	Abnormal fingernail morphology	5977	DPF2	ORPHA:1465
HP:0001231	Abnormal fingernail morphology	6601	SMARCC2	ORPHA:1465
HP:0001231	Abnormal fingernail morphology	6602	SMARCD1	ORPHA:1465
HP:0001231	Abnormal fingernail morphology	57492	ARID1B	ORPHA:1465
HP:0001231	Abnormal fingernail morphology	57492	ARID1B	OMIM:135900
HP:0001231	Abnormal fingernail morphology	196528	ARID2	ORPHA:1465
HP:0001231	Abnormal fingernail morphology	6605	SMARCE1	ORPHA:1465
HP:0001231	Abnormal fingernail morphology	6664	SOX11	ORPHA:1465
HP:0001231	Abnormal fingernail morphology	6664	SOX11	OMIM:615866
HP:0001231	Abnormal fingernail morphology	27315	PGAP2	OMIM:614207
HP:0001231	Abnormal fingernail morphology	1857	DVL3	ORPHA:3107
HP:0001231	Abnormal fingernail morphology	7474	WNT5A	ORPHA:3107
HP:0001231	Abnormal fingernail morphology	1855	DVL1	ORPHA:3107
HP:0001231	Abnormal fingernail morphology	2535	FZD2	ORPHA:3107
HP:0001231	Abnormal fingernail morphology	1947	EFNB1	ORPHA:1520
HP:0001231	Abnormal fingernail morphology	55630	SLC39A4	ORPHA:37
HP:0001231	Abnormal fingernail morphology	267010	RNU12	ORPHA:85199
HP:0001231	Abnormal fingernail morphology	3229	HOXC13	OMIM:614931
HP:0001231	Abnormal fingernail morphology	4038	LRP4	ORPHA:3152
HP:0001231	Abnormal fingernail morphology	50964	SOST	ORPHA:3152
HP:0001231	Abnormal fingernail morphology	3590	IL11RA	OMIM:614188
HP:0001231	Abnormal fingernail morphology	4010	LMX1B	ORPHA:2614
HP:0001231	Abnormal fingernail morphology	8626	TP63	ORPHA:978
HP:0001231	Abnormal fingernail morphology	64359	NXN	ORPHA:1507
HP:0001231	Abnormal fingernail morphology	3872	KRT17	ORPHA:2309
HP:0001231	Abnormal fingernail morphology	3853	KRT6A	ORPHA:2309
HP:0001231	Abnormal fingernail morphology	3854	KRT6B	ORPHA:2309
HP:0001232	Nail bed telangiectasia	94	ACVRL1	OMIM:600376
HP:0001232	Nail bed telangiectasia	2022	ENG	OMIM:187300
HP:0001233	2-3 finger cutaneous syndactyly	2188	FANCF	OMIM:603467
HP:0001233	2-3 finger cutaneous syndactyly	50964	SOST	OMIM:269500
HP:0001233	2-3 finger cutaneous syndactyly	50964	SOST	ORPHA:3152
HP:0001233	2-3 finger cutaneous syndactyly	6910	TBX5	OMIM:142900
HP:0001233	2-3 finger cutaneous syndactyly	4038	LRP4	ORPHA:3152
HP:0001233	2-3 finger cutaneous syndactyly	1832	DSP	ORPHA:158687
HP:0001233	2-3 finger cutaneous syndactyly	3728	JUP	ORPHA:158687
HP:0001233	2-3 finger cutaneous syndactyly	1001	CDH3	OMIM:225280
HP:0001233	2-3 finger cutaneous syndactyly	2263	FGFR2	OMIM:149730
HP:0001233	2-3 finger cutaneous syndactyly	2719	GPC3	OMIM:312870
HP:0001233	2-3 finger cutaneous syndactyly	2239	GPC4	OMIM:312870
HP:0001233	2-3 finger cutaneous syndactyly	51057	WDPCP	OMIM:217085
HP:0001233	2-3 finger cutaneous syndactyly	51057	WDPCP	ORPHA:1338
HP:0001234	Hitchhiker thumb	1836	SLC26A2	ORPHA:56304
HP:0001234	Hitchhiker thumb	1836	SLC26A2	OMIM:256050
HP:0001234	Hitchhiker thumb	1836	SLC26A2	OMIM:222600
HP:0001234	Hitchhiker thumb	1836	SLC26A2	ORPHA:628
HP:0001234	Hitchhiker thumb	79796	ALG9	ORPHA:79328
HP:0001234	Hitchhiker thumb	23019	CNOT1	OMIM:618500
HP:0001234	Hitchhiker thumb	54928	BPNT2	OMIM:614078
HP:0001234	Hitchhiker thumb	22858	CILK1	OMIM:612651
HP:0001234	Hitchhiker thumb	1954	MEGF8	OMIM:614976
HP:0001234	Hitchhiker thumb	2317	FLNB	OMIM:108721
HP:0001234	Hitchhiker thumb	22856	CHSY1	OMIM:605282
HP:0001238	Slender finger	64132	XYLT2	OMIM:605822
HP:0001238	Slender finger	4088	SMAD3	ORPHA:284984
HP:0001238	Slender finger	4088	SMAD3	OMIM:613795
HP:0001238	Slender finger	4088	SMAD3	ORPHA:60030
HP:0001238	Slender finger	4088	SMAD3	ORPHA:91387
HP:0001238	Slender finger	875	CBS	ORPHA:394
HP:0001238	Slender finger	875	CBS	OMIM:236200
HP:0001238	Slender finger	25970	SH2B1	ORPHA:261222
HP:0001238	Slender finger	199857	ALG14	OMIM:619036
HP:0001238	Slender finger	8925	HERC1	OMIM:617011
HP:0001238	Slender finger	8925	HERC1	ORPHA:457359
HP:0001238	Slender finger	1075	CTSC	OMIM:245010
HP:0001238	Slender finger	1075	CTSC	ORPHA:678
HP:0001238	Slender finger	5351	PLOD1	OMIM:225400
HP:0001238	Slender finger	8076	MFAP5	OMIM:616166
HP:0001238	Slender finger	8076	MFAP5	ORPHA:91387
HP:0001238	Slender finger	652	BMP4	ORPHA:828
HP:0001238	Slender finger	57122	NUP107	OMIM:618348
HP:0001238	Slender finger	57122	NUP107	OMIM:616730
HP:0001238	Slender finger	57122	NUP107	ORPHA:243
HP:0001238	Slender finger	2200	FBN1	ORPHA:284979
HP:0001238	Slender finger	2200	FBN1	OMIM:129600
HP:0001238	Slender finger	2200	FBN1	OMIM:154700
HP:0001238	Slender finger	2200	FBN1	OMIM:604308
HP:0001238	Slender finger	2200	FBN1	OMIM:616914
HP:0001238	Slender finger	2200	FBN1	ORPHA:2462
HP:0001238	Slender finger	2200	FBN1	ORPHA:91387
HP:0001238	Slender finger	2202	EFEMP1	OMIM:620780
HP:0001238	Slender finger	5447	POR	ORPHA:95699
HP:0001238	Slender finger	5447	POR	OMIM:207410
HP:0001238	Slender finger	5447	POR	OMIM:201750
HP:0001238	Slender finger	1301	COL11A1	OMIM:604841
HP:0001238	Slender finger	91179	SCARF2	OMIM:600920
HP:0001238	Slender finger	613	BCR	ORPHA:261330
HP:0001238	Slender finger	1399	CRKL	ORPHA:261330
HP:0001238	Slender finger	5594	MAPK1	ORPHA:261330
HP:0001238	Slender finger	3021	H3-3B	OMIM:619721
HP:0001238	Slender finger	80816	ASXL3	OMIM:615485
HP:0001238	Slender finger	80816	ASXL3	ORPHA:352577
HP:0001238	Slender finger	63895	PIEZO2	OMIM:617146
HP:0001238	Slender finger	63895	PIEZO2	OMIM:108145
HP:0001238	Slender finger	63895	PIEZO2	ORPHA:1154
HP:0001238	Slender finger	63895	PIEZO2	OMIM:248700
HP:0001238	Slender finger	63895	PIEZO2	ORPHA:2461
HP:0001238	Slender finger	2263	FGFR2	OMIM:207410
HP:0001238	Slender finger	72	ACTG2	ORPHA:2604
HP:0001238	Slender finger	2261	FGFR3	OMIM:610474
HP:0001238	Slender finger	2201	FBN2	OMIM:121050
HP:0001238	Slender finger	2201	FBN2	ORPHA:115
HP:0001238	Slender finger	30008	EFEMP2	OMIM:614437
HP:0001238	Slender finger	4882	NPR2	OMIM:615923
HP:0001238	Slender finger	10084	PQBP1	ORPHA:93946
HP:0001238	Slender finger	51114	ZDHHC9	ORPHA:776
HP:0001238	Slender finger	51114	ZDHHC9	OMIM:300799
HP:0001238	Slender finger	65109	UPF3B	ORPHA:776
HP:0001238	Slender finger	9968	MED12	ORPHA:776
HP:0001238	Slender finger	9968	MED12	OMIM:309520
HP:0001238	Slender finger	79693	YRDC	OMIM:619609
HP:0001238	Slender finger	1146	CHRNG	OMIM:265000
HP:0001238	Slender finger	2316	FLNA	OMIM:305620
HP:0001238	Slender finger	80204	FBXO11	OMIM:618089
HP:0001238	Slender finger	1272	CNTN1	OMIM:612540
HP:0001238	Slender finger	23476	BRD4	OMIM:620568
HP:0001238	Slender finger	29920	PYCR2	ORPHA:481152
HP:0001238	Slender finger	29920	PYCR2	OMIM:616420
HP:0001238	Slender finger	1312	COMT	ORPHA:567
HP:0001238	Slender finger	221037	JMJD1C	ORPHA:567
HP:0001238	Slender finger	2812	GP1BB	ORPHA:567
HP:0001238	Slender finger	6239	RREB1	ORPHA:567
HP:0001238	Slender finger	6899	TBX1	ORPHA:567
HP:0001238	Slender finger	7290	HIRA	ORPHA:567
HP:0001238	Slender finger	9632	SEC24C	ORPHA:567
HP:0001238	Slender finger	7353	UFD1	ORPHA:567
HP:0001238	Slender finger	421	ARVCF	ORPHA:567
HP:0001238	Slender finger	444	ASPH	OMIM:601552
HP:0001238	Slender finger	259232	NALCN	ORPHA:562528
HP:0001238	Slender finger	259232	NALCN	ORPHA:371364
HP:0001238	Slender finger	9839	ZEB2	ORPHA:261552
HP:0001238	Slender finger	9839	ZEB2	ORPHA:261537
HP:0001238	Slender finger	10815	CPLX1	ORPHA:280
HP:0001238	Slender finger	54872	PIGG	ORPHA:280
HP:0001238	Slender finger	7469	NELFA	ORPHA:280
HP:0001238	Slender finger	1487	CTBP1	ORPHA:280
HP:0001238	Slender finger	3954	LETM1	ORPHA:280
HP:0001238	Slender finger	7468	NSD2	ORPHA:280
HP:0001238	Slender finger	633	BGN	OMIM:300989
HP:0001238	Slender finger	79576	NKAP	OMIM:301039
HP:0001238	Slender finger	3188	HNRNPH2	OMIM:300986
HP:0001238	Slender finger	25	ABL1	OMIM:617602
HP:0001238	Slender finger	23152	CIC	OMIM:617600
HP:0001238	Slender finger	649	BMP1	OMIM:614856
HP:0001238	Slender finger	89910	UBE3B	ORPHA:2707
HP:0001238	Slender finger	25942	SIN3A	OMIM:613406
HP:0001238	Slender finger	26834	RNU4-2	OMIM:620851
HP:0001238	Slender finger	55644	OSGEP	OMIM:617729
HP:0001238	Slender finger	165	AEBP1	ORPHA:536532
HP:0001238	Slender finger	11285	B4GALT7	ORPHA:75496
HP:0001238	Slender finger	11285	B4GALT7	OMIM:130070
HP:0001238	Slender finger	1798	DPAGT1	ORPHA:86309
HP:0001238	Slender finger	6611	SMS	ORPHA:3063
HP:0001238	Slender finger	157680	VPS13B	ORPHA:193
HP:0001238	Slender finger	10526	IPO8	OMIM:619472
HP:0001238	Slender finger	10526	IPO8	ORPHA:60030
HP:0001238	Slender finger	8270	LAGE3	OMIM:301006
HP:0001238	Slender finger	490	ATP2B1	OMIM:619910
HP:0001238	Slender finger	285175	UNC80	ORPHA:371364
HP:0001238	Slender finger	81031	SLC2A10	ORPHA:3342
HP:0001238	Slender finger	81031	SLC2A10	OMIM:208050
HP:0001238	Slender finger	4534	MTM1	OMIM:310400
HP:0001238	Slender finger	1280	COL2A1	OMIM:108300
HP:0001238	Slender finger	5184	PEPD	ORPHA:742
HP:0001238	Slender finger	715	C1R	OMIM:130080
HP:0001238	Slender finger	51633	OTUD6B	ORPHA:505237
HP:0001238	Slender finger	60676	PAPPA2	OMIM:619489
HP:0001238	Slender finger	1742	DLG4	OMIM:618793
HP:0001238	Slender finger	6605	SMARCE1	OMIM:616938
HP:0001238	Slender finger	11107	PRDM5	ORPHA:90354
HP:0001238	Slender finger	84627	ZNF469	ORPHA:90354
HP:0001238	Slender finger	139285	AMER1	OMIM:300373
HP:0001238	Slender finger	3187	HNRNPH1	OMIM:620083
HP:0001238	Slender finger	5727	PTCH1	ORPHA:377
HP:0001238	Slender finger	8643	PTCH2	ORPHA:377
HP:0001238	Slender finger	51684	SUFU	ORPHA:377
HP:0001238	Slender finger	6497	SKI	OMIM:182212
HP:0001238	Slender finger	6497	SKI	ORPHA:2462
HP:0001238	Slender finger	126792	B3GALT6	ORPHA:536467
HP:0001238	Slender finger	4677	NARS1	OMIM:619092
HP:0001238	Slender finger	6651	SON	ORPHA:500150
HP:0001238	Slender finger	2193	FARSA	OMIM:619013
HP:0001238	Slender finger	10273	STUB1	ORPHA:412057
HP:0001238	Slender finger	4087	SMAD2	OMIM:619656
HP:0001238	Slender finger	4087	SMAD2	ORPHA:60030
HP:0001238	Slender finger	4087	SMAD2	ORPHA:91387
HP:0001238	Slender finger	7048	TGFBR2	OMIM:610168
HP:0001238	Slender finger	7048	TGFBR2	ORPHA:60030
HP:0001238	Slender finger	7048	TGFBR2	ORPHA:91387
HP:0001238	Slender finger	10516	FBLN5	OMIM:219100
HP:0001238	Slender finger	23133	PHF8	OMIM:300263
HP:0001238	Slender finger	29893	PSMC3IP	ORPHA:243
HP:0001238	Slender finger	171568	POLR3H	ORPHA:243
HP:0001238	Slender finger	2516	NR5A1	ORPHA:243
HP:0001238	Slender finger	125150	ZSWIM7	ORPHA:243
HP:0001238	Slender finger	9210	BMP15	ORPHA:243
HP:0001238	Slender finger	23514	SPIDR	ORPHA:243
HP:0001238	Slender finger	2492	FSHR	ORPHA:243
HP:0001238	Slender finger	56945	MRPS22	ORPHA:243
HP:0001238	Slender finger	646	BNC1	ORPHA:243
HP:0001238	Slender finger	4438	MSH4	ORPHA:243
HP:0001238	Slender finger	5965	RECQL	OMIM:620370
HP:0001238	Slender finger	55553	SOX6	OMIM:618971
HP:0001238	Slender finger	4883	NPR3	OMIM:619543
HP:0001238	Slender finger	7043	TGFB3	OMIM:615582
HP:0001238	Slender finger	7043	TGFB3	ORPHA:60030
HP:0001238	Slender finger	7043	TGFB3	ORPHA:91387
HP:0001238	Slender finger	7046	TGFBR1	ORPHA:60030
HP:0001238	Slender finger	7046	TGFBR1	OMIM:609192
HP:0001238	Slender finger	7046	TGFBR1	ORPHA:91387
HP:0001238	Slender finger	7042	TGFB2	ORPHA:60030
HP:0001238	Slender finger	7042	TGFB2	OMIM:614816
HP:0001238	Slender finger	7042	TGFB2	ORPHA:91387
HP:0001238	Slender finger	56603	CYP26B1	OMIM:614416
HP:0001238	Slender finger	4629	MYH11	ORPHA:91387
HP:0001238	Slender finger	4015	LOX	ORPHA:91387
HP:0001238	Slender finger	4089	SMAD4	ORPHA:91387
HP:0001238	Slender finger	59	ACTA2	ORPHA:91387
HP:0001238	Slender finger	5592	PRKG1	ORPHA:91387
HP:0001238	Slender finger	2301	FOXE3	ORPHA:91387
HP:0001238	Slender finger	4144	MAT2A	ORPHA:91387
HP:0001238	Slender finger	23493	HEY2	ORPHA:91387
HP:0001238	Slender finger	4638	MYLK	ORPHA:91387
HP:0001238	Slender finger	79875	THSD4	ORPHA:91387
HP:0001238	Slender finger	2006	ELN	ORPHA:91387
HP:0001238	Slender finger	3835	KIF22	ORPHA:93360
HP:0001238	Slender finger	4784	NFIX	OMIM:602535
HP:0001238	Slender finger	83696	TRAPPC9	OMIM:613192
HP:0001238	Slender finger	1281	COL3A1	OMIM:618343
HP:0001238	Slender finger	23162	MAPK8IP3	OMIM:618443
HP:0001238	Slender finger	113189	CHST14	ORPHA:2953
HP:0001238	Slender finger	29940	DSE	ORPHA:2953
HP:0001238	Slender finger	546	ATRX	OMIM:309580
HP:0001238	Slender finger	2186	BPTF	OMIM:617755
HP:0001238	Slender finger	23314	SATB2	ORPHA:251028
HP:0001238	Slender finger	8239	USP9X	ORPHA:480880
HP:0001238	Slender finger	10973	ASCC3	OMIM:620700
HP:0001238	Slender finger	284058	KANSL1	OMIM:610443
HP:0001238	Slender finger	84942	WDR73	OMIM:251300
HP:0001238	Slender finger	1303	COL12A1	ORPHA:75840
HP:0001238	Slender finger	1291	COL6A1	ORPHA:75840
HP:0001238	Slender finger	1292	COL6A2	ORPHA:75840
HP:0001238	Slender finger	1293	COL6A3	ORPHA:75840
HP:0001238	Slender finger	3955	LFNG	OMIM:609813
HP:0001238	Slender finger	10479	SLC9A6	OMIM:300243
HP:0001238	Slender finger	9578	CDC42BPB	OMIM:619841
HP:0001238	Slender finger	29998	BICRA	OMIM:619325
HP:0001238	Slender finger	10525	HYOU1	OMIM:233600
HP:0001238	Slender finger	55690	PACS1	ORPHA:329224
HP:0001238	Slender finger	2783	GNB2	OMIM:619503
HP:0001238	Slender finger	93587	TRMT10A	ORPHA:391408
HP:0001238	Slender finger	84919	PPP1R15B	ORPHA:391408
HP:0001238	Slender finger	4548	MTR	OMIM:250940
HP:0001238	Slender finger	9343	EFTUD2	OMIM:610536
HP:0001238	Slender finger	7175	TPR	OMIM:620393
HP:0001239	Wrist flexion contracture	2316	FLNA	OMIM:305620
HP:0001239	Wrist flexion contracture	2316	FLNA	ORPHA:1826
HP:0001239	Wrist flexion contracture	4204	MECP2	OMIM:300055
HP:0001239	Wrist flexion contracture	10216	PRG4	OMIM:208250
HP:0001239	Wrist flexion contracture	4621	MYH3	OMIM:193700
HP:0001239	Wrist flexion contracture	4593	MUSK	OMIM:208150
HP:0001239	Wrist flexion contracture	29895	MYL11	OMIM:619110
HP:0001239	Wrist flexion contracture	10381	TUBB3	OMIM:600638
HP:0001239	Wrist flexion contracture	57863	CADM3	OMIM:619519
HP:0001239	Wrist flexion contracture	55681	SCYL2	ORPHA:1143
HP:0001239	Wrist flexion contracture	84570	COL25A1	ORPHA:1143
HP:0001239	Wrist flexion contracture	57222	ERGIC1	ORPHA:1143
HP:0001239	Wrist flexion contracture	57211	ADGRG6	OMIM:616503
HP:0001239	Wrist flexion contracture	80208	SPG11	OMIM:616668
HP:0001239	Wrist flexion contracture	6885	MAP3K7	ORPHA:1826
HP:0001239	Wrist flexion contracture	3339	HSPG2	OMIM:255800
HP:0001239	Wrist flexion contracture	3339	HSPG2	ORPHA:800
HP:0001239	Wrist flexion contracture	7138	TNNT1	OMIM:620386
HP:0001239	Wrist flexion contracture	9719	ADAMTSL2	OMIM:231050
HP:0001239	Wrist flexion contracture	157570	ESCO2	ORPHA:3103
HP:0001239	Wrist flexion contracture	157570	ESCO2	OMIM:268300
HP:0001239	Wrist flexion contracture	126792	B3GALT6	OMIM:609465
HP:0001239	Wrist flexion contracture	4313	MMP2	OMIM:259600
HP:0001239	Wrist flexion contracture	4000	LMNA	OMIM:181350
HP:0001239	Wrist flexion contracture	825	CAPN3	ORPHA:267
HP:0001239	Wrist flexion contracture	6913	TBX15	OMIM:260660
HP:0001239	Wrist flexion contracture	388015	RTL1	ORPHA:254528
HP:0001239	Wrist flexion contracture	8788	DLK1	ORPHA:254528
HP:0001239	Wrist flexion contracture	55384	MEG3	ORPHA:254528
HP:0001239	Wrist flexion contracture	4921	DDR2	OMIM:618175
HP:0001239	Wrist flexion contracture	2201	FBN2	OMIM:121050
HP:0001239	Wrist flexion contracture	8449	DHX16	OMIM:618733
HP:0001239	Wrist flexion contracture	27145	FILIP1	OMIM:620775
HP:0001239	Wrist flexion contracture	2067	ERCC1	OMIM:610758
HP:0001239	Wrist flexion contracture	1303	COL12A1	ORPHA:610
HP:0001239	Wrist flexion contracture	1291	COL6A1	ORPHA:610
HP:0001239	Wrist flexion contracture	1292	COL6A2	ORPHA:610
HP:0001239	Wrist flexion contracture	1293	COL6A3	ORPHA:610
HP:0001239	Wrist flexion contracture	203859	ANO5	ORPHA:206549
HP:0001239	Wrist flexion contracture	11160	ERLIN2	ORPHA:209951
HP:0001239	Wrist flexion contracture	171023	ASXL1	ORPHA:97297
HP:0001239	Wrist flexion contracture	5077	PAX3	OMIM:148820
HP:0001239	Wrist flexion contracture	5297	PI4KA	OMIM:616531
HP:0004447	Poikilocytosis	126410	CYP4F22	OMIM:604777
HP:0004447	Poikilocytosis	4547	MTTP	ORPHA:14
HP:0004447	Poikilocytosis	4547	MTTP	OMIM:200100
HP:0004447	Poikilocytosis	7504	XK	OMIM:300842
HP:0004447	Poikilocytosis	23230	VPS13A	OMIM:200150
HP:0004447	Poikilocytosis	23230	VPS13A	ORPHA:2388
HP:0004447	Poikilocytosis	3783	KCNN4	OMIM:616689
HP:0004447	Poikilocytosis	790	CAD	OMIM:616457
HP:0004447	Poikilocytosis	338	APOB	OMIM:615558
HP:0004447	Poikilocytosis	51128	SAR1B	ORPHA:71
HP:0004447	Poikilocytosis	80025	PANK2	OMIM:234200
HP:0004447	Poikilocytosis	29071	C1GALT1C1	OMIM:301110
HP:0004447	Poikilocytosis	6573	SLC19A1	OMIM:601775
HP:0004447	Poikilocytosis	11093	ADAMTS13	OMIM:274150
HP:0004447	Poikilocytosis	6521	SLC4A1	ORPHA:3202
HP:0004447	Poikilocytosis	9780	PIEZO1	ORPHA:3202
HP:0004447	Poikilocytosis	10878	CFHR3	OMIM:235400
HP:0004447	Poikilocytosis	3075	CFH	OMIM:235400
HP:0004447	Poikilocytosis	3078	CFHR1	OMIM:235400
HP:0004447	Poikilocytosis	286	ANK1	ORPHA:251066
HP:0004447	Poikilocytosis	286	ANK1	OMIM:182900
HP:0004447	Poikilocytosis	286	ANK1	ORPHA:822
HP:0004447	Poikilocytosis	2038	EPB42	OMIM:612690
HP:0004447	Poikilocytosis	2038	EPB42	ORPHA:822
HP:0004447	Poikilocytosis	6005	RHAG	ORPHA:71275
HP:0004447	Poikilocytosis	6006	RHCE	ORPHA:71275
HP:0004447	Poikilocytosis	6007	RHD	ORPHA:71275
HP:0004447	Poikilocytosis	9949	AMMECR1	OMIM:300990
HP:0004447	Poikilocytosis	9949	AMMECR1	ORPHA:86818
HP:0004447	Poikilocytosis	23630	KCNE5	ORPHA:86818
HP:0004447	Poikilocytosis	2182	ACSL4	ORPHA:86818
HP:0004447	Poikilocytosis	760	CA2	ORPHA:2785
HP:0004447	Poikilocytosis	2811	GP1BA	OMIM:153670
HP:0004447	Poikilocytosis	5277	PIGA	OMIM:300868
HP:0004447	Poikilocytosis	6513	SLC2A1	OMIM:608885
HP:0004447	Poikilocytosis	6513	SLC2A1	ORPHA:168577
HP:0004447	Poikilocytosis	64240	ABCG5	ORPHA:2882
HP:0004447	Poikilocytosis	64241	ABCG8	ORPHA:2882
HP:0004447	Poikilocytosis	64241	ABCG8	OMIM:210250
HP:0004447	Poikilocytosis	10058	ABCB6	ORPHA:90044
HP:0004447	Poikilocytosis	2035	EPB41	ORPHA:288
HP:0004447	Poikilocytosis	2995	GYPC	ORPHA:288
HP:0004447	Poikilocytosis	6710	SPTB	ORPHA:288
HP:0004447	Poikilocytosis	6708	SPTA1	ORPHA:288
HP:0004447	Poikilocytosis	22	ABCB7	OMIM:301310
HP:0004447	Poikilocytosis	22	ABCB7	ORPHA:2802
HP:0004447	Poikilocytosis	9493	KIF23	ORPHA:98870
HP:0004447	Poikilocytosis	29127	RACGAP1	ORPHA:98870
HP:0004447	Poikilocytosis	374354	NHLRC2	OMIM:618278
HP:0004447	Poikilocytosis	2623	GATA1	ORPHA:67044
HP:0004447	Poikilocytosis	2623	GATA1	OMIM:300367
HP:0004447	Poikilocytosis	2623	GATA1	OMIM:300835
HP:0004447	Poikilocytosis	2623	GATA1	ORPHA:79277
HP:0004447	Poikilocytosis	146059	CDAN1	OMIM:224120
HP:0004447	Poikilocytosis	164656	TMPRSS6	OMIM:206200
HP:0004447	Poikilocytosis	10661	KLF1	OMIM:613673
HP:0004447	Poikilocytosis	8573	CASK	OMIM:300908
HP:0004447	Poikilocytosis	2539	G6PD	OMIM:300908
HP:0004447	Poikilocytosis	55240	STEAP3	OMIM:615234
HP:0004447	Poikilocytosis	7372	UMPS	OMIM:258900
HP:0004447	Poikilocytosis	1861	TOR1A	OMIM:618947
HP:0004447	Poikilocytosis	84529	CDIN1	OMIM:615631
HP:0004447	Poikilocytosis	811	CALR	ORPHA:824
HP:0004447	Poikilocytosis	4352	MPL	ORPHA:824
HP:0004447	Poikilocytosis	3717	JAK2	ORPHA:824
HP:0004447	Poikilocytosis	54790	TET2	ORPHA:824
HP:0004447	Poikilocytosis	51095	TRNT1	OMIM:616959
HP:0004447	Poikilocytosis	7390	UROS	ORPHA:79277
HP:0004447	Poikilocytosis	5313	PKLR	ORPHA:766
HP:0004447	Poikilocytosis	8029	CUBN	ORPHA:35858
HP:0004447	Poikilocytosis	81693	AMN	ORPHA:35858
HP:0004447	Poikilocytosis	9419	CRIPT	OMIM:615789
HP:0004447	Poikilocytosis	81570	CLPB	OMIM:619835
HP:0004447	Poikilocytosis	6309	SC5D	ORPHA:46059
HP:0004447	Poikilocytosis	6309	SC5D	OMIM:607330
HP:0004447	Poikilocytosis	3043	HBB	ORPHA:231214
HP:0004447	Poikilocytosis	80739	MPIG6B	OMIM:617441
HP:0000009	Functional abnormality of the bladder	554	AVPR2	ORPHA:223
HP:0000009	Functional abnormality of the bladder	359	AQP2	ORPHA:223
HP:0000009	Functional abnormality of the bladder	7840	ALMS1	ORPHA:64
HP:0000009	Functional abnormality of the bladder	6772	STAT1	ORPHA:391487
HP:0000009	Functional abnormality of the bladder	823	CAPN1	ORPHA:488594
HP:0000009	Functional abnormality of the bladder	23503	ZFYVE26	ORPHA:100996
HP:0000009	Functional abnormality of the bladder	113189	CHST14	ORPHA:2953
HP:0000009	Functional abnormality of the bladder	29940	DSE	ORPHA:2953
HP:0000009	Functional abnormality of the bladder	267	AMFR	OMIM:620379
HP:0000009	Functional abnormality of the bladder	253738	EBF3	ORPHA:96148
HP:0000009	Functional abnormality of the bladder	91949	COG7	OMIM:608779
HP:0000009	Functional abnormality of the bladder	8504	PEX3	OMIM:617370
HP:0000009	Functional abnormality of the bladder	92482	BBIP1	ORPHA:110
HP:0000009	Functional abnormality of the bladder	80184	CEP290	ORPHA:110
HP:0000009	Functional abnormality of the bladder	11020	IFT27	ORPHA:110
HP:0000009	Functional abnormality of the bladder	582	BBS1	ORPHA:110
HP:0000009	Functional abnormality of the bladder	49855	SCAPER	ORPHA:110
HP:0000009	Functional abnormality of the bladder	4867	NPHP1	ORPHA:110
HP:0000009	Functional abnormality of the bladder	51057	WDPCP	ORPHA:110
HP:0000009	Functional abnormality of the bladder	132320	SCLT1	ORPHA:110
HP:0000009	Functional abnormality of the bladder	27241	BBS9	ORPHA:110
HP:0000009	Functional abnormality of the bladder	84984	CEP19	ORPHA:110
HP:0000009	Functional abnormality of the bladder	22954	TRIM32	ORPHA:110
HP:0000009	Functional abnormality of the bladder	54903	MKS1	ORPHA:110
HP:0000009	Functional abnormality of the bladder	79738	BBS10	ORPHA:110
HP:0000009	Functional abnormality of the bladder	123016	TTC8	ORPHA:110
HP:0000009	Functional abnormality of the bladder	26160	IFT172	ORPHA:110
HP:0000009	Functional abnormality of the bladder	583	BBS2	ORPHA:110
HP:0000009	Functional abnormality of the bladder	585	BBS4	ORPHA:110
HP:0000009	Functional abnormality of the bladder	8195	MKKS	ORPHA:110
HP:0000009	Functional abnormality of the bladder	54585	LZTFL1	ORPHA:110
HP:0000009	Functional abnormality of the bladder	55212	BBS7	ORPHA:110
HP:0000009	Functional abnormality of the bladder	166379	BBS12	ORPHA:110
HP:0000009	Functional abnormality of the bladder	10806	SDCCAG8	ORPHA:110
HP:0000009	Functional abnormality of the bladder	157657	CFAP418	ORPHA:110
HP:0000009	Functional abnormality of the bladder	84100	ARL6	ORPHA:110
HP:0000009	Functional abnormality of the bladder	129880	BBS5	ORPHA:110
HP:0000009	Functional abnormality of the bladder	80173	IFT74	ORPHA:110
HP:0000009	Functional abnormality of the bladder	10466	COG5	ORPHA:263487
HP:0000009	Functional abnormality of the bladder	10466	COG5	OMIM:613612
HP:0000009	Functional abnormality of the bladder	92935	MARS2	OMIM:611390
HP:0000009	Functional abnormality of the bladder	55823	VPS11	OMIM:616683
HP:0000009	Functional abnormality of the bladder	55823	VPS11	ORPHA:466934
HP:0000009	Functional abnormality of the bladder	1161	ERCC8	ORPHA:90324
HP:0000009	Functional abnormality of the bladder	2074	ERCC6	ORPHA:90324
HP:0000009	Functional abnormality of the bladder	6885	MAP3K7	OMIM:617137
HP:0000009	Functional abnormality of the bladder	400916	CHCHD10	OMIM:615911
HP:0000009	Functional abnormality of the bladder	4287	ATXN3	ORPHA:276244
HP:0000009	Functional abnormality of the bladder	4287	ATXN3	ORPHA:276241
HP:0000009	Functional abnormality of the bladder	4287	ATXN3	ORPHA:276238
HP:0000009	Functional abnormality of the bladder	493856	CISD2	OMIM:604928
HP:0000009	Functional abnormality of the bladder	51112	TRAPPC12	ORPHA:500144
HP:0000009	Functional abnormality of the bladder	51112	TRAPPC12	OMIM:617669
HP:0000009	Functional abnormality of the bladder	4854	NOTCH3	OMIM:130720
HP:0000009	Functional abnormality of the bladder	79803	HPS6	OMIM:614075
HP:0000009	Functional abnormality of the bladder	2782	GNB1	OMIM:616973
HP:0000009	Functional abnormality of the bladder	3110	MNX1	ORPHA:1552
HP:0000009	Functional abnormality of the bladder	3110	MNX1	OMIM:176450
HP:0000009	Functional abnormality of the bladder	2050	EPHB4	ORPHA:137667
HP:0000009	Functional abnormality of the bladder	5921	RASA1	ORPHA:137667
HP:0000009	Functional abnormality of the bladder	9915	ARNT2	OMIM:615926
HP:0000009	Functional abnormality of the bladder	5354	PLP1	ORPHA:280229
HP:0000009	Functional abnormality of the bladder	10667	FARS2	ORPHA:466722
HP:0000009	Functional abnormality of the bladder	23499	MACF1	ORPHA:572013
HP:0000009	Functional abnormality of the bladder	387119	CEP85L	ORPHA:572013
HP:0000009	Functional abnormality of the bladder	6904	TBCD	ORPHA:496641
HP:0000009	Functional abnormality of the bladder	1185	CLCN6	OMIM:619173
HP:0000009	Functional abnormality of the bladder	1136	CHRNA3	OMIM:191800
HP:0000009	Functional abnormality of the bladder	64834	ELOVL1	OMIM:618527
HP:0000009	Functional abnormality of the bladder	123263	MTFMT	OMIM:618248
HP:0000009	Functional abnormality of the bladder	2019	EN1	OMIM:619218
HP:0000009	Functional abnormality of the bladder	2697	GJA1	ORPHA:2710
HP:0000009	Functional abnormality of the bladder	2697	GJA1	OMIM:164200
HP:0000009	Functional abnormality of the bladder	2632	GBE1	ORPHA:206583
HP:0000009	Functional abnormality of the bladder	2632	GBE1	OMIM:263570
HP:0000009	Functional abnormality of the bladder	81839	VANGL1	OMIM:600145
HP:0000009	Functional abnormality of the bladder	7466	WFS1	OMIM:222300
HP:0000009	Functional abnormality of the bladder	23400	ATP13A2	ORPHA:513436
HP:0000009	Functional abnormality of the bladder	3980	LIG3	OMIM:619780
HP:0000009	Functional abnormality of the bladder	25793	FBXO7	ORPHA:171695
HP:0000009	Functional abnormality of the bladder	6622	SNCA	ORPHA:171695
HP:0000009	Functional abnormality of the bladder	55331	ACER3	OMIM:617762
HP:0000009	Functional abnormality of the bladder	84667	HES7	OMIM:613686
HP:0000009	Functional abnormality of the bladder	93627	TBCK	ORPHA:488632
HP:0000009	Functional abnormality of the bladder	5498	PPOX	ORPHA:79473
HP:0000009	Functional abnormality of the bladder	9897	WASHC5	OMIM:603563
HP:0000009	Functional abnormality of the bladder	9897	WASHC5	ORPHA:100989
HP:0000009	Functional abnormality of the bladder	51062	ATL1	ORPHA:100984
HP:0000009	Functional abnormality of the bladder	51062	ATL1	OMIM:182600
HP:0000009	Functional abnormality of the bladder	23111	SPART	OMIM:275900
HP:0000009	Functional abnormality of the bladder	87178	PNPT1	ORPHA:101111
HP:0000009	Functional abnormality of the bladder	87178	PNPT1	OMIM:608703
HP:0000009	Functional abnormality of the bladder	65018	PINK1	OMIM:605909
HP:0000009	Functional abnormality of the bladder	6683	SPAST	ORPHA:100985
HP:0000009	Functional abnormality of the bladder	6683	SPAST	OMIM:182601
HP:0000009	Functional abnormality of the bladder	9860	LRIG2	OMIM:615112
HP:0000009	Functional abnormality of the bladder	59341	TRPV4	OMIM:606071
HP:0000009	Functional abnormality of the bladder	3748	KCNC3	ORPHA:98768
HP:0000009	Functional abnormality of the bladder	27235	COQ2	OMIM:146500
HP:0000009	Functional abnormality of the bladder	6687	SPG7	ORPHA:99013
HP:0000009	Functional abnormality of the bladder	6687	SPG7	OMIM:607259
HP:0000009	Functional abnormality of the bladder	25814	ATXN10	ORPHA:98761
HP:0000009	Functional abnormality of the bladder	25814	ATXN10	OMIM:603516
HP:0000009	Functional abnormality of the bladder	123606	NIPA1	OMIM:600363
HP:0000009	Functional abnormality of the bladder	478	ATP1A3	OMIM:601338
HP:0000009	Functional abnormality of the bladder	9442	MED27	OMIM:619286
HP:0000009	Functional abnormality of the bladder	6253	RTN2	OMIM:604805
HP:0000009	Functional abnormality of the bladder	6253	RTN2	ORPHA:100993
HP:0000009	Functional abnormality of the bladder	27102	EIF2AK1	OMIM:618878
HP:0000009	Functional abnormality of the bladder	26278	SACS	OMIM:270550
HP:0000009	Functional abnormality of the bladder	80208	SPG11	OMIM:604360
HP:0000009	Functional abnormality of the bladder	8913	CACNA1G	ORPHA:458803
HP:0000009	Functional abnormality of the bladder	8913	CACNA1G	OMIM:616795
HP:0000009	Functional abnormality of the bladder	215	ABCD1	ORPHA:139399
HP:0000009	Functional abnormality of the bladder	3329	HSPD1	OMIM:605280
HP:0000009	Functional abnormality of the bladder	3329	HSPD1	ORPHA:100994
HP:0000009	Functional abnormality of the bladder	5832	ALDH18A1	ORPHA:447753
HP:0000009	Functional abnormality of the bladder	5832	ALDH18A1	OMIM:601162
HP:0000009	Functional abnormality of the bladder	51271	UBAP1	ORPHA:100993
HP:0000009	Functional abnormality of the bladder	51271	UBAP1	OMIM:618418
HP:0000009	Functional abnormality of the bladder	126129	CPT1C	ORPHA:444099
HP:0000009	Functional abnormality of the bladder	7274	TTPA	ORPHA:96
HP:0000009	Functional abnormality of the bladder	3798	KIF5A	ORPHA:100991
HP:0000009	Functional abnormality of the bladder	3798	KIF5A	OMIM:604187
HP:0000009	Functional abnormality of the bladder	3839	KPNA3	ORPHA:171612
HP:0000009	Functional abnormality of the bladder	84842	HPDL	OMIM:619027
HP:0000009	Functional abnormality of the bladder	5297	PI4KA	OMIM:619621
HP:0000009	Functional abnormality of the bladder	65055	REEP1	OMIM:610250
HP:0000009	Functional abnormality of the bladder	2583	B4GALNT1	OMIM:609195
HP:0000009	Functional abnormality of the bladder	1200	TPP1	OMIM:609270
HP:0000009	Functional abnormality of the bladder	2783	GNB2	OMIM:619503
HP:0000009	Functional abnormality of the bladder	2629	GBA1	OMIM:168600
HP:0000009	Functional abnormality of the bladder	126	ADH1C	OMIM:168600
HP:0000009	Functional abnormality of the bladder	4137	MAPT	OMIM:168600
HP:0000009	Functional abnormality of the bladder	4576	MT-TT	OMIM:168600
HP:0000009	Functional abnormality of the bladder	9627	SNCAIP	OMIM:168600
HP:0000009	Functional abnormality of the bladder	6908	TBP	OMIM:168600
HP:0000009	Functional abnormality of the bladder	4929	NR4A2	OMIM:168600
HP:0000009	Functional abnormality of the bladder	6311	ATXN2	OMIM:168600
HP:0000009	Functional abnormality of the bladder	6315	ATXN8OS	OMIM:168600
HP:0000009	Functional abnormality of the bladder	79152	FA2H	OMIM:612319
HP:0000009	Functional abnormality of the bladder	2395	FXN	ORPHA:95
HP:0000009	Functional abnormality of the bladder	4001	LMNB1	ORPHA:99027
HP:0000009	Functional abnormality of the bladder	72	ACTG2	OMIM:155310
HP:0000009	Functional abnormality of the bladder	816	CAMK2B	OMIM:617799
HP:0000009	Functional abnormality of the bladder	54796	BNC2	ORPHA:93110
HP:0000009	Functional abnormality of the bladder	100134444	KCNJ18	ORPHA:79102
HP:0000009	Functional abnormality of the bladder	2556	GABRA3	ORPHA:79102
HP:0000009	Functional abnormality of the bladder	779	CACNA1S	ORPHA:79102
HP:0000009	Functional abnormality of the bladder	3431	SP110	ORPHA:79124
HP:0000009	Functional abnormality of the bladder	7040	TGFB1	ORPHA:1328
HP:0000009	Functional abnormality of the bladder	5621	PRNP	OMIM:600072
HP:0000009	Functional abnormality of the bladder	2131	EXT1	ORPHA:321
HP:0000009	Functional abnormality of the bladder	2132	EXT2	ORPHA:321
HP:0000009	Functional abnormality of the bladder	3909	LAMA3	ORPHA:79404
HP:0000009	Functional abnormality of the bladder	3918	LAMC2	ORPHA:79404
HP:0000009	Functional abnormality of the bladder	3914	LAMB3	ORPHA:79404
HP:0000009	Functional abnormality of the bladder	171023	ASXL1	ORPHA:97297
HP:0000009	Functional abnormality of the bladder	4665	NAB2	ORPHA:2126
HP:0000009	Functional abnormality of the bladder	6778	STAT6	ORPHA:2126
HP:0000009	Functional abnormality of the bladder	3145	HMBS	OMIM:176000
HP:0000009	Functional abnormality of the bladder	3145	HMBS	ORPHA:79276
HP:0000009	Functional abnormality of the bladder	353	APRT	ORPHA:976
HP:0000009	Functional abnormality of the bladder	291	SLC25A4	ORPHA:254892
HP:0000009	Functional abnormality of the bladder	5428	POLG	ORPHA:254892
HP:0000009	Functional abnormality of the bladder	56652	TWNK	ORPHA:254892
HP:0000009	Functional abnormality of the bladder	11232	POLG2	ORPHA:254892
HP:0000009	Functional abnormality of the bladder	50484	RRM2B	ORPHA:254892
HP:0000009	Functional abnormality of the bladder	6559	SLC12A3	OMIM:263800
HP:0000009	Functional abnormality of the bladder	6559	SLC12A3	ORPHA:358
HP:0000009	Functional abnormality of the bladder	8398	PLA2G6	OMIM:612953
HP:0000009	Functional abnormality of the bladder	1621	DBH	ORPHA:230
HP:0000009	Functional abnormality of the bladder	1621	DBH	OMIM:223360
HP:0000009	Functional abnormality of the bladder	1512	CTSH	ORPHA:2073
HP:0000009	Functional abnormality of the bladder	5032	P2RY11	ORPHA:2073
HP:0000009	Functional abnormality of the bladder	4340	MOG	ORPHA:2073
HP:0000009	Functional abnormality of the bladder	3119	HLA-DQB1	ORPHA:2073
HP:0000009	Functional abnormality of the bladder	3060	HCRT	ORPHA:2073
HP:0000009	Functional abnormality of the bladder	22891	ZNF365	ORPHA:2073
HP:0000009	Functional abnormality of the bladder	7292	TNFSF4	ORPHA:2073
HP:0000009	Functional abnormality of the bladder	3123	HLA-DRB1	ORPHA:2073
HP:0000009	Functional abnormality of the bladder	1188	CLCNKB	ORPHA:358
HP:0000009	Functional abnormality of the bladder	55906	ZC4H2	OMIM:301041
HP:0000009	Functional abnormality of the bladder	6513	SLC2A1	ORPHA:64280
HP:0000009	Functional abnormality of the bladder	2562	GABRB3	ORPHA:64280
HP:0000009	Functional abnormality of the bladder	2554	GABRA1	ORPHA:64280
HP:0000009	Functional abnormality of the bladder	8912	CACNA1H	ORPHA:64280
HP:0000009	Functional abnormality of the bladder	8629	JRK	ORPHA:64280
HP:0000009	Functional abnormality of the bladder	2566	GABRG2	ORPHA:64280
HP:0000009	Functional abnormality of the bladder	23394	ADNP	ORPHA:404448
HP:0000009	Functional abnormality of the bladder	340533	NEXMIF	OMIM:300912
HP:0000009	Functional abnormality of the bladder	23345	SYNE1	ORPHA:88644
HP:0000009	Functional abnormality of the bladder	23446	SLC44A1	OMIM:618868
HP:0000009	Functional abnormality of the bladder	22880	MORC2	OMIM:616688
HP:0000009	Functional abnormality of the bladder	22880	MORC2	ORPHA:466768
HP:0000009	Functional abnormality of the bladder	54832	VPS13C	OMIM:616840
HP:0000009	Functional abnormality of the bladder	57704	GBA2	ORPHA:352641
HP:0000009	Functional abnormality of the bladder	57704	GBA2	ORPHA:320391
HP:0000009	Functional abnormality of the bladder	57704	GBA2	OMIM:614409
HP:0000009	Functional abnormality of the bladder	1786	DNMT1	ORPHA:314404
HP:0000009	Functional abnormality of the bladder	4803	NGF	OMIM:608654
HP:0000009	Functional abnormality of the bladder	84320	ACBD6	OMIM:620785
HP:0000009	Functional abnormality of the bladder	6347	CCL2	OMIM:182940
HP:0000009	Functional abnormality of the bladder	80199	FUZ	OMIM:182940
HP:0000009	Functional abnormality of the bladder	6862	TBXT	OMIM:182940
HP:0000009	Functional abnormality of the bladder	57216	VANGL2	OMIM:182940
HP:0000009	Functional abnormality of the bladder	274	BIN1	ORPHA:169189
HP:0000009	Functional abnormality of the bladder	64419	MTMR14	ORPHA:169189
HP:0000009	Functional abnormality of the bladder	4618	MYF6	ORPHA:169189
HP:0000009	Functional abnormality of the bladder	1785	DNM2	ORPHA:169189
HP:0000009	Functional abnormality of the bladder	6261	RYR1	ORPHA:169189
HP:0000009	Functional abnormality of the bladder	5660	PSAP	OMIM:249900
HP:0000009	Functional abnormality of the bladder	5660	PSAP	ORPHA:309271
HP:0000009	Functional abnormality of the bladder	5660	PSAP	ORPHA:309263
HP:0000009	Functional abnormality of the bladder	5660	PSAP	ORPHA:309256
HP:0000009	Functional abnormality of the bladder	3074	HEXB	ORPHA:309162
HP:0000009	Functional abnormality of the bladder	3074	HEXB	OMIM:268800
HP:0000009	Functional abnormality of the bladder	10479	SLC9A6	OMIM:300243
HP:0000009	Functional abnormality of the bladder	81790	RNF170	OMIM:619686
HP:0000009	Functional abnormality of the bladder	6335	SCN9A	OMIM:243000
HP:0000009	Functional abnormality of the bladder	8878	SQSTM1	OMIM:617145
HP:0000009	Functional abnormality of the bladder	5610	EIF2AK2	OMIM:618877
HP:0000009	Functional abnormality of the bladder	128486	FITM2	OMIM:618635
HP:0000009	Functional abnormality of the bladder	2581	GALC	ORPHA:206448
HP:0000009	Functional abnormality of the bladder	3508	IGHMBP2	OMIM:604320
HP:0000009	Functional abnormality of the bladder	100996717	NOTCH2NLC	OMIM:603472
HP:0000009	Functional abnormality of the bladder	90161	HS6ST2	OMIM:301025
HP:0000009	Functional abnormality of the bladder	410	ARSA	ORPHA:309271
HP:0000009	Functional abnormality of the bladder	410	ARSA	ORPHA:309263
HP:0000009	Functional abnormality of the bladder	410	ARSA	ORPHA:309256
HP:0000009	Functional abnormality of the bladder	410	ARSA	OMIM:250100
HP:0000009	Functional abnormality of the bladder	2590	GALNT2	OMIM:618885
HP:0000009	Functional abnormality of the bladder	51319	RSRC1	OMIM:618402
HP:0000009	Functional abnormality of the bladder	54463	RETREG1	OMIM:613115
HP:0000009	Functional abnormality of the bladder	6575	SLC20A2	OMIM:213600
HP:0000009	Functional abnormality of the bladder	5159	PDGFRB	OMIM:213600
HP:0000009	Functional abnormality of the bladder	5155	PDGFB	OMIM:213600
HP:0000009	Functional abnormality of the bladder	5155	PDGFB	ORPHA:2495
HP:0000009	Functional abnormality of the bladder	549	AUH	OMIM:250950
HP:0000009	Functional abnormality of the bladder	7276	TTR	OMIM:105210
HP:0000009	Functional abnormality of the bladder	10273	STUB1	OMIM:618093
HP:0000009	Functional abnormality of the bladder	1137	CHRNA4	ORPHA:98784
HP:0000009	Functional abnormality of the bladder	1135	CHRNA2	ORPHA:98784
HP:0000009	Functional abnormality of the bladder	57010	CABP4	ORPHA:98784
HP:0000009	Functional abnormality of the bladder	1141	CHRNB2	ORPHA:98784
HP:0000009	Functional abnormality of the bladder	57582	KCNT1	ORPHA:98784
HP:0000009	Functional abnormality of the bladder	1392	CRH	ORPHA:98784
HP:0000009	Functional abnormality of the bladder	9681	DEPDC5	ORPHA:98784
HP:0000009	Functional abnormality of the bladder	57531	HACE1	ORPHA:464282
HP:0000009	Functional abnormality of the bladder	9420	CYP7B1	OMIM:270800
HP:0000009	Functional abnormality of the bladder	9839	ZEB2	ORPHA:261552
HP:0000009	Functional abnormality of the bladder	9839	ZEB2	ORPHA:261537
HP:0000009	Functional abnormality of the bladder	2332	FMR1	OMIM:300623
HP:0000009	Functional abnormality of the bladder	60495	HPSE2	ORPHA:2704
HP:0000009	Functional abnormality of the bladder	9907	AP5Z1	OMIM:613647
HP:0000009	Functional abnormality of the bladder	9907	AP5Z1	ORPHA:306511
HP:0000009	Functional abnormality of the bladder	4747	NEFL	ORPHA:101085
HP:0000009	Functional abnormality of the bladder	28982	FLVCR1	OMIM:609033
HP:0000009	Functional abnormality of the bladder	3752	KCND3	ORPHA:98772
HP:0000009	Functional abnormality of the bladder	2261	FGFR3	OMIM:616482
HP:0000009	Functional abnormality of the bladder	56978	PRDM8	OMIM:616640
HP:0000009	Functional abnormality of the bladder	23259	DDHD2	OMIM:615033
HP:0000009	Functional abnormality of the bladder	2548	GAA	OMIM:232300
HP:0000009	Functional abnormality of the bladder	92609	TIMM50	OMIM:617698
HP:0000009	Functional abnormality of the bladder	92609	TIMM50	ORPHA:505216
HP:0000009	Functional abnormality of the bladder	8314	BAP1	ORPHA:2495
HP:0000009	Functional abnormality of the bladder	4771	NF2	ORPHA:2495
HP:0000009	Functional abnormality of the bladder	6598	SMARCB1	ORPHA:2495
HP:0000009	Functional abnormality of the bladder	84231	TRAF7	ORPHA:2495
HP:0000009	Functional abnormality of the bladder	6608	SMO	ORPHA:2495
HP:0000009	Functional abnormality of the bladder	207	AKT1	ORPHA:2495
HP:0000009	Functional abnormality of the bladder	5290	PIK3CA	ORPHA:2495
HP:0000009	Functional abnormality of the bladder	7015	TERT	ORPHA:2495
HP:0000009	Functional abnormality of the bladder	51684	SUFU	ORPHA:2495
HP:0000009	Functional abnormality of the bladder	6605	SMARCE1	ORPHA:2495
HP:0000009	Functional abnormality of the bladder	80025	PANK2	OMIM:234200
HP:0000009	Functional abnormality of the bladder	724066	ATXN8	ORPHA:98760
HP:0000009	Functional abnormality of the bladder	51611	DPH5	OMIM:620070
HP:0000009	Functional abnormality of the bladder	283446	MYO1H	OMIM:619482
HP:0000009	Functional abnormality of the bladder	2521	FUS	ORPHA:300605
HP:0000009	Functional abnormality of the bladder	10280	SIGMAR1	ORPHA:300605
HP:0000009	Functional abnormality of the bladder	10558	SPTLC1	ORPHA:300605
HP:0000009	Functional abnormality of the bladder	57679	ALS2	ORPHA:300605
HP:0000009	Functional abnormality of the bladder	57679	ALS2	OMIM:205100
HP:0000009	Functional abnormality of the bladder	57679	ALS2	OMIM:607225
HP:0000009	Functional abnormality of the bladder	6305	SBF1	OMIM:615284
HP:0000009	Functional abnormality of the bladder	7750	ZMYM2	OMIM:619522
HP:0000009	Functional abnormality of the bladder	7204	TRIO	ORPHA:476126
HP:0000009	Functional abnormality of the bladder	11160	ERLIN2	OMIM:620512
HP:0000009	Functional abnormality of the bladder	25978	CHMP2B	OMIM:600795
HP:0000009	Functional abnormality of the bladder	339855	KY	OMIM:617114
HP:0000009	Functional abnormality of the bladder	1315	COPB1	OMIM:619255
HP:0000009	Functional abnormality of the bladder	7415	VCP	ORPHA:329478
HP:0000009	Functional abnormality of the bladder	22943	DKK1	ORPHA:268882
HP:0000009	Functional abnormality of the bladder	2678	GGT1	OMIM:231950
HP:0000009	Functional abnormality of the bladder	25913	POT1	OMIM:620368
HP:0000009	Functional abnormality of the bladder	8799	PEX11B	OMIM:614920
HP:0000009	Functional abnormality of the bladder	9757	KMT2B	OMIM:619934
HP:0000009	Functional abnormality of the bladder	6509	SLC1A4	ORPHA:447997
HP:0000009	Functional abnormality of the bladder	84978	FRMD5	OMIM:620094
HP:0000009	Functional abnormality of the bladder	5654	HTRA1	OMIM:600142
HP:0000009	Functional abnormality of the bladder	80217	CFAP43	OMIM:236690
HP:0000009	Functional abnormality of the bladder	7305	TYROBP	OMIM:221770
HP:0000009	Functional abnormality of the bladder	170302	ARX	OMIM:300419
HP:0000009	Functional abnormality of the bladder	57165	GJC2	OMIM:613206
HP:0000009	Functional abnormality of the bladder	55081	IFT57	OMIM:617927
HP:0000009	Functional abnormality of the bladder	25970	SH2B1	ORPHA:261222
HP:0000009	Functional abnormality of the bladder	5076	PAX2	ORPHA:97362
HP:0000009	Functional abnormality of the bladder	5076	PAX2	ORPHA:1475
HP:0000009	Functional abnormality of the bladder	5076	PAX2	OMIM:120330
HP:0000009	Functional abnormality of the bladder	5087	PBX1	ORPHA:97362
HP:0000009	Functional abnormality of the bladder	5087	PBX1	OMIM:617641
HP:0000009	Functional abnormality of the bladder	10617	STAMBP	OMIM:614261
HP:0000009	Functional abnormality of the bladder	8294	H4C9	OMIM:619951
HP:0000009	Functional abnormality of the bladder	2138	EYA1	OMIM:113650
HP:0000009	Functional abnormality of the bladder	2138	EYA1	ORPHA:107
HP:0000009	Functional abnormality of the bladder	6495	SIX1	OMIM:113650
HP:0000009	Functional abnormality of the bladder	6495	SIX1	OMIM:605192
HP:0000009	Functional abnormality of the bladder	6495	SIX1	ORPHA:107
HP:0000009	Functional abnormality of the bladder	54892	NCAPG2	OMIM:618460
HP:0000009	Functional abnormality of the bladder	26128	KIFBP	OMIM:609460
HP:0000009	Functional abnormality of the bladder	23556	PIGN	ORPHA:2059
HP:0000009	Functional abnormality of the bladder	23556	PIGN	OMIM:614080
HP:0000009	Functional abnormality of the bladder	1788	DNMT3A	OMIM:615879
HP:0000009	Functional abnormality of the bladder	5361	PLXNA1	OMIM:619955
HP:0000009	Functional abnormality of the bladder	3209	HOXA13	OMIM:140000
HP:0000009	Functional abnormality of the bladder	3209	HOXA13	ORPHA:2438
HP:0000009	Functional abnormality of the bladder	90459	ERI1	OMIM:620663
HP:0000009	Functional abnormality of the bladder	90459	ERI1	OMIM:620662
HP:0000009	Functional abnormality of the bladder	4774	NFIA	OMIM:613735
HP:0000009	Functional abnormality of the bladder	79813	EHMT1	ORPHA:96147
HP:0000009	Functional abnormality of the bladder	79813	EHMT1	ORPHA:261652
HP:0000009	Functional abnormality of the bladder	10992	SF3B2	OMIM:164210
HP:0000009	Functional abnormality of the bladder	85358	SHANK3	OMIM:606232
HP:0000009	Functional abnormality of the bladder	1131	CHRM3	ORPHA:2970
HP:0000009	Functional abnormality of the bladder	57167	SALL4	OMIM:607323
HP:0000009	Functional abnormality of the bladder	57167	SALL4	ORPHA:959
HP:0000009	Functional abnormality of the bladder	8626	TP63	OMIM:604292
HP:0000009	Functional abnormality of the bladder	8626	TP63	ORPHA:93930
HP:0000009	Functional abnormality of the bladder	8626	TP63	ORPHA:1896
HP:0000009	Functional abnormality of the bladder	64324	NSD1	ORPHA:821
HP:0000009	Functional abnormality of the bladder	10297	APC2	ORPHA:821
HP:0000009	Functional abnormality of the bladder	5447	POR	ORPHA:95699
HP:0000009	Functional abnormality of the bladder	55593	OTUD5	OMIM:301056
HP:0000009	Functional abnormality of the bladder	3190	HNRNPK	ORPHA:453504
HP:0000009	Functional abnormality of the bladder	3190	HNRNPK	OMIM:616580
HP:0000009	Functional abnormality of the bladder	3190	HNRNPK	ORPHA:352665
HP:0000009	Functional abnormality of the bladder	27125	AFF4	ORPHA:444077
HP:0000009	Functional abnormality of the bladder	27125	AFF4	OMIM:616368
HP:0000009	Functional abnormality of the bladder	80114	BICC1	OMIM:601331
HP:0000009	Functional abnormality of the bladder	6299	SALL1	OMIM:107480
HP:0000009	Functional abnormality of the bladder	6299	SALL1	ORPHA:857
HP:0000009	Functional abnormality of the bladder	4281	MID1	OMIM:300000
HP:0000009	Functional abnormality of the bladder	4281	MID1	ORPHA:2745
HP:0000009	Functional abnormality of the bladder	23498	HAAO	OMIM:617660
HP:0000009	Functional abnormality of the bladder	1387	CREBBP	ORPHA:353281
HP:0000009	Functional abnormality of the bladder	1387	CREBBP	ORPHA:353277
HP:0000009	Functional abnormality of the bladder	51506	UFC1	OMIM:618076
HP:0000009	Functional abnormality of the bladder	473	RERE	OMIM:616975
HP:0000009	Functional abnormality of the bladder	473	RERE	ORPHA:494344
HP:0000009	Functional abnormality of the bladder	3313	HSPA9	OMIM:616854
HP:0000009	Functional abnormality of the bladder	55215	FANCI	OMIM:609053
HP:0000009	Functional abnormality of the bladder	2033	EP300	ORPHA:353284
HP:0000009	Functional abnormality of the bladder	6092	ROBO2	OMIM:610878
HP:0000009	Functional abnormality of the bladder	55636	CHD7	ORPHA:138
HP:0000009	Functional abnormality of the bladder	9723	SEMA3E	ORPHA:138
HP:0000009	Functional abnormality of the bladder	2188	FANCF	OMIM:603467
HP:0000009	Functional abnormality of the bladder	23005	MAPKBP1	OMIM:617271
HP:0000009	Functional abnormality of the bladder	2263	FGFR2	ORPHA:93260
HP:0000009	Functional abnormality of the bladder	2263	FGFR2	ORPHA:2363
HP:0000009	Functional abnormality of the bladder	51473	DCDC2	OMIM:617394
HP:0000009	Functional abnormality of the bladder	284058	KANSL1	ORPHA:363958
HP:0000009	Functional abnormality of the bladder	284058	KANSL1	ORPHA:363965
HP:0000009	Functional abnormality of the bladder	284058	KANSL1	OMIM:610443
HP:0000009	Functional abnormality of the bladder	9401	RECQL4	ORPHA:1225
HP:0000009	Functional abnormality of the bladder	10616	RBCK1	OMIM:615895
HP:0000009	Functional abnormality of the bladder	1108	CHD4	OMIM:617159
HP:0000009	Functional abnormality of the bladder	9675	TTI1	OMIM:620445
HP:0000009	Functional abnormality of the bladder	7080	NKX2-1	ORPHA:209905
HP:0000009	Functional abnormality of the bladder	1312	COMT	ORPHA:567
HP:0000009	Functional abnormality of the bladder	221037	JMJD1C	ORPHA:567
HP:0000009	Functional abnormality of the bladder	2812	GP1BB	ORPHA:567
HP:0000009	Functional abnormality of the bladder	6239	RREB1	ORPHA:567
HP:0000009	Functional abnormality of the bladder	6899	TBX1	ORPHA:567
HP:0000009	Functional abnormality of the bladder	7290	HIRA	ORPHA:567
HP:0000009	Functional abnormality of the bladder	9632	SEC24C	ORPHA:567
HP:0000009	Functional abnormality of the bladder	7353	UFD1	ORPHA:567
HP:0000009	Functional abnormality of the bladder	421	ARVCF	ORPHA:567
HP:0000009	Functional abnormality of the bladder	3670	ISL1	ORPHA:93930
HP:0000009	Functional abnormality of the bladder	25778	DSTYK	OMIM:610805
HP:0000009	Functional abnormality of the bladder	22827	PUF60	ORPHA:508488
HP:0000009	Functional abnormality of the bladder	10524	KAT5	OMIM:619103
HP:0000009	Functional abnormality of the bladder	1656	DDX6	OMIM:618653
HP:0000009	Functional abnormality of the bladder	5718	PSMD12	ORPHA:529962
HP:0000009	Functional abnormality of the bladder	2186	BPTF	ORPHA:529962
HP:0000009	Functional abnormality of the bladder	5277	PIGA	OMIM:300868
HP:0000009	Functional abnormality of the bladder	57178	ZMIZ1	OMIM:618659
HP:0000009	Functional abnormality of the bladder	8550	MAPKAPK5	OMIM:619869
HP:0000009	Functional abnormality of the bladder	80781	COL18A1	ORPHA:1571
HP:0000009	Functional abnormality of the bladder	5062	PAK2	ORPHA:1571
HP:0000009	Functional abnormality of the bladder	54496	PRMT7	ORPHA:464288
HP:0000009	Functional abnormality of the bladder	3192	HNRNPU	ORPHA:238769
HP:0000009	Functional abnormality of the bladder	23476	BRD4	ORPHA:199
HP:0000009	Functional abnormality of the bladder	9126	SMC3	ORPHA:199
HP:0000009	Functional abnormality of the bladder	8243	SMC1A	ORPHA:199
HP:0000009	Functional abnormality of the bladder	6878	TAF6	ORPHA:199
HP:0000009	Functional abnormality of the bladder	25836	NIPBL	ORPHA:199
HP:0000009	Functional abnormality of the bladder	25836	NIPBL	OMIM:122470
HP:0000009	Functional abnormality of the bladder	55869	HDAC8	ORPHA:199
HP:0000009	Functional abnormality of the bladder	5885	RAD21	ORPHA:199
HP:0000009	Functional abnormality of the bladder	5885	RAD21	ORPHA:502
HP:0000009	Functional abnormality of the bladder	5885	RAD21	OMIM:611376
HP:0000009	Functional abnormality of the bladder	4613	MYCN	ORPHA:391641
HP:0000009	Functional abnormality of the bladder	5530	PPP3CA	OMIM:618265
HP:0000009	Functional abnormality of the bladder	6135	RPL11	OMIM:612562
HP:0000009	Functional abnormality of the bladder	92002	CCNQ	OMIM:300707
HP:0000009	Functional abnormality of the bladder	92002	CCNQ	ORPHA:140952
HP:0000009	Functional abnormality of the bladder	6804	STX1A	ORPHA:904
HP:0000009	Functional abnormality of the bladder	7461	CLIP2	ORPHA:904
HP:0000009	Functional abnormality of the bladder	84277	DNAJC30	ORPHA:904
HP:0000009	Functional abnormality of the bladder	8468	FKBP6	ORPHA:904
HP:0000009	Functional abnormality of the bladder	5982	RFC2	ORPHA:904
HP:0000009	Functional abnormality of the bladder	2969	GTF2I	ORPHA:904
HP:0000009	Functional abnormality of the bladder	3984	LIMK1	ORPHA:904
HP:0000009	Functional abnormality of the bladder	9569	GTF2IRD1	ORPHA:904
HP:0000009	Functional abnormality of the bladder	155382	VPS37D	ORPHA:904
HP:0000009	Functional abnormality of the bladder	155368	METTL27	ORPHA:904
HP:0000009	Functional abnormality of the bladder	114049	BUD23	ORPHA:904
HP:0000009	Functional abnormality of the bladder	7458	EIF4H	ORPHA:904
HP:0000009	Functional abnormality of the bladder	84163	GTF2IRD2	ORPHA:904
HP:0000009	Functional abnormality of the bladder	26608	TBL2	ORPHA:904
HP:0000009	Functional abnormality of the bladder	653361	NCF1	ORPHA:904
HP:0000009	Functional abnormality of the bladder	135886	TMEM270	ORPHA:904
HP:0000009	Functional abnormality of the bladder	9031	BAZ1B	ORPHA:904
HP:0000009	Functional abnormality of the bladder	2006	ELN	ORPHA:904
HP:0000009	Functional abnormality of the bladder	2006	ELN	OMIM:194050
HP:0000009	Functional abnormality of the bladder	9091	PIGQ	OMIM:618548
HP:0000009	Functional abnormality of the bladder	84720	PIGO	OMIM:614749
HP:0000009	Functional abnormality of the bladder	8405	SPOP	OMIM:618828
HP:0000009	Functional abnormality of the bladder	147912	SIX5	ORPHA:107
HP:0000009	Functional abnormality of the bladder	7227	TRPS1	ORPHA:502
HP:0000009	Functional abnormality of the bladder	8204	NRIP1	OMIM:618270
HP:0000009	Functional abnormality of the bladder	58508	KMT2C	ORPHA:261652
HP:0000009	Functional abnormality of the bladder	8318	CDC45	OMIM:617063
HP:0000009	Functional abnormality of the bladder	253959	RALGAPA1	OMIM:618797
HP:0000009	Functional abnormality of the bladder	1857	DVL3	OMIM:616894
HP:0000009	Functional abnormality of the bladder	51339	DACT1	OMIM:617466
HP:0000009	Functional abnormality of the bladder	51339	DACT1	ORPHA:857
HP:0000009	Functional abnormality of the bladder	7148	TNXB	OMIM:615963
HP:0000009	Functional abnormality of the bladder	7148	TNXB	OMIM:606408
HP:0000009	Functional abnormality of the bladder	182	JAG1	OMIM:118450
HP:0000009	Functional abnormality of the bladder	2255	FGF10	ORPHA:2363
HP:0000009	Functional abnormality of the bladder	2316	FLNA	ORPHA:2484
HP:0000009	Functional abnormality of the bladder	51085	MLXIPL	OMIM:194050
HP:0000009	Functional abnormality of the bladder	5080	PAX6	OMIM:120200
HP:0000009	Functional abnormality of the bladder	11128	POLR3A	ORPHA:3455
HP:0000009	Functional abnormality of the bladder	9968	MED12	OMIM:301068
HP:0000009	Functional abnormality of the bladder	7369	UMOD	OMIM:162000
HP:0000009	Functional abnormality of the bladder	64220	STRA6	ORPHA:2470
HP:0000009	Functional abnormality of the bladder	7477	WNT7B	ORPHA:2470
HP:0000009	Functional abnormality of the bladder	5915	RARB	ORPHA:2470
HP:0000009	Functional abnormality of the bladder	1028	CDKN1C	OMIM:130650
HP:0000009	Functional abnormality of the bladder	3481	IGF2	OMIM:130650
HP:0000009	Functional abnormality of the bladder	3784	KCNQ1	OMIM:130650
HP:0000009	Functional abnormality of the bladder	10984	KCNQ1OT1	OMIM:130650
HP:0000009	Functional abnormality of the bladder	51360	MBTPS2	ORPHA:85284
HP:0000009	Functional abnormality of the bladder	546	ATRX	OMIM:309580
HP:0000009	Functional abnormality of the bladder	2625	GATA3	ORPHA:2237
HP:0000009	Functional abnormality of the bladder	6389	SDHA	ORPHA:3208
HP:0000009	Functional abnormality of the bladder	6390	SDHB	ORPHA:3208
HP:0000009	Functional abnormality of the bladder	6392	SDHD	ORPHA:3208
HP:0000009	Functional abnormality of the bladder	644096	SDHAF1	ORPHA:3208
HP:0000009	Functional abnormality of the bladder	4052	LTBP1	ORPHA:90349
HP:0000009	Functional abnormality of the bladder	30008	EFEMP2	ORPHA:90349
HP:0000009	Functional abnormality of the bladder	10516	FBLN5	ORPHA:90349
HP:0000009	Functional abnormality of the bladder	9939	RBM8A	OMIM:274000
HP:0000009	Functional abnormality of the bladder	147372	CCBE1	OMIM:235510
HP:0000009	Functional abnormality of the bladder	9276	COPB2	ORPHA:2512
HP:0000009	Functional abnormality of the bladder	11113	CIT	ORPHA:2512
HP:0000009	Functional abnormality of the bladder	9928	KIF14	ORPHA:2512
HP:0000009	Functional abnormality of the bladder	22995	CEP152	ORPHA:2512
HP:0000009	Functional abnormality of the bladder	284403	WDR62	ORPHA:2512
HP:0000009	Functional abnormality of the bladder	55262	TRAPPC14	ORPHA:2512
HP:0000009	Functional abnormality of the bladder	163786	SASS6	ORPHA:2512
HP:0000009	Functional abnormality of the bladder	29920	PYCR2	ORPHA:2512
HP:0000009	Functional abnormality of the bladder	84879	MFSD2A	ORPHA:2512
HP:0000009	Functional abnormality of the bladder	4176	MCM7	ORPHA:2512
HP:0000009	Functional abnormality of the bladder	80254	CEP63	ORPHA:2512
HP:0000009	Functional abnormality of the bladder	29081	METTL5	ORPHA:2512
HP:0000009	Functional abnormality of the bladder	79023	NUP37	ORPHA:2512
HP:0000009	Functional abnormality of the bladder	23310	NCAPD3	ORPHA:2512
HP:0000009	Functional abnormality of the bladder	6301	SARS1	ORPHA:2512
HP:0000009	Functional abnormality of the bladder	55755	CDK5RAP2	ORPHA:2512
HP:0000009	Functional abnormality of the bladder	79648	MCPH1	ORPHA:2512
HP:0000009	Functional abnormality of the bladder	6491	STIL	ORPHA:2512
HP:0000009	Functional abnormality of the bladder	23141	ANKLE2	ORPHA:2512
HP:0000009	Functional abnormality of the bladder	259266	ASPM	ORPHA:2512
HP:0000009	Functional abnormality of the bladder	7109	TRAPPC10	ORPHA:2512
HP:0000009	Functional abnormality of the bladder	7453	WARS1	ORPHA:2512
HP:0000009	Functional abnormality of the bladder	1911	PHC1	ORPHA:2512
HP:0000009	Functional abnormality of the bladder	1062	CENPE	ORPHA:2512
HP:0000009	Functional abnormality of the bladder	6884	TAF13	ORPHA:2512
HP:0000009	Functional abnormality of the bladder	9662	CEP135	ORPHA:2512
HP:0000009	Functional abnormality of the bladder	57082	KNL1	ORPHA:2512
HP:0000009	Functional abnormality of the bladder	1021	CDK6	ORPHA:2512
HP:0000009	Functional abnormality of the bladder	9203	ZMYM3	OMIM:301111
HP:0000009	Functional abnormality of the bladder	8295	TRRAP	OMIM:618454
HP:0000009	Functional abnormality of the bladder	7319	UBE2A	ORPHA:163956
HP:0000009	Functional abnormality of the bladder	5908	RAP1B	OMIM:620654
HP:0000009	Functional abnormality of the bladder	80000	GREB1L	OMIM:617805
HP:0000009	Functional abnormality of the bladder	8085	KMT2D	OMIM:147920
HP:0000009	Functional abnormality of the bladder	7403	KDM6A	OMIM:147920
HP:0000009	Functional abnormality of the bladder	6595	SMARCA2	OMIM:619293
HP:0000009	Functional abnormality of the bladder	1741	DLG3	OMIM:300850
HP:0000009	Functional abnormality of the bladder	6524	SLC5A2	ORPHA:69076
HP:0000009	Functional abnormality of the bladder	54941	RNF125	OMIM:616260
HP:0000009	Functional abnormality of the bladder	54757	FAM20A	OMIM:204690
HP:0000009	Functional abnormality of the bladder	54757	FAM20A	ORPHA:1031
HP:0000009	Functional abnormality of the bladder	3766	KCNJ10	OMIM:612780
HP:0000009	Functional abnormality of the bladder	3766	KCNJ10	ORPHA:199343
HP:0000009	Functional abnormality of the bladder	27086	FOXP1	OMIM:613670
HP:0000009	Functional abnormality of the bladder	10165	SLC25A13	ORPHA:247585
HP:0000009	Functional abnormality of the bladder	189	AGXT	ORPHA:93598
HP:0000009	Functional abnormality of the bladder	1760	DMPK	ORPHA:589821
HP:0000009	Functional abnormality of the bladder	5442	POLRMT	OMIM:619743
HP:0000009	Functional abnormality of the bladder	3708	ITPR1	OMIM:117360
HP:0000009	Functional abnormality of the bladder	27031	NPHP3	OMIM:604387
HP:0000009	Functional abnormality of the bladder	1801	DPH1	ORPHA:459061
HP:0000009	Functional abnormality of the bladder	1802	DPH2	ORPHA:459061
HP:0000009	Functional abnormality of the bladder	51741	WWOX	ORPHA:284282
HP:0000009	Functional abnormality of the bladder	23533	PIK3R5	ORPHA:64753
HP:0000009	Functional abnormality of the bladder	23064	SETX	ORPHA:64753
HP:0000009	Functional abnormality of the bladder	4312	MMP1	ORPHA:79408
HP:0000009	Functional abnormality of the bladder	1294	COL7A1	ORPHA:79408
HP:0000009	Functional abnormality of the bladder	51308	REEP2	ORPHA:401849
HP:0000009	Functional abnormality of the bladder	51308	REEP2	OMIM:615625
HP:0000009	Functional abnormality of the bladder	2670	GFAP	ORPHA:363722
HP:0000009	Functional abnormality of the bladder	547	KIF1A	OMIM:610357
HP:0000009	Functional abnormality of the bladder	6310	ATXN1	OMIM:164400
HP:0000009	Functional abnormality of the bladder	5376	PMP22	ORPHA:3115
HP:0000009	Functional abnormality of the bladder	4359	MPZ	ORPHA:3115
HP:0000009	Functional abnormality of the bladder	3178	HNRNPA1	ORPHA:52430
HP:0000009	Functional abnormality of the bladder	3181	HNRNPA2B1	ORPHA:52430
HP:0000009	Functional abnormality of the bladder	55157	DARS2	ORPHA:137898
HP:0000009	Functional abnormality of the bladder	23317	DNAJC13	ORPHA:411602
HP:0000009	Functional abnormality of the bladder	1981	EIF4G1	ORPHA:411602
HP:0000009	Functional abnormality of the bladder	55737	VPS35	ORPHA:411602
HP:0000009	Functional abnormality of the bladder	120892	LRRK2	ORPHA:411602
HP:0000009	Functional abnormality of the bladder	26058	GIGYF2	ORPHA:411602
HP:0000009	Functional abnormality of the bladder	5575	PRKAR1B	OMIM:619680
HP:0000009	Functional abnormality of the bladder	649	BMP1	OMIM:614856
HP:0000009	Functional abnormality of the bladder	165918	RNF168	ORPHA:420741
HP:0000009	Functional abnormality of the bladder	93986	FOXP2	ORPHA:251061
HP:0000009	Functional abnormality of the bladder	55898	UNC45A	OMIM:619377
HP:0000009	Functional abnormality of the bladder	64321	SOX17	OMIM:613674
HP:0000009	Functional abnormality of the bladder	8291	DYSF	ORPHA:268
HP:0000009	Functional abnormality of the bladder	4683	NBN	ORPHA:647
HP:0000009	Functional abnormality of the bladder	112817	HOGA1	ORPHA:93600
HP:0000009	Functional abnormality of the bladder	3106	HLA-B	ORPHA:36426
HP:0000009	Functional abnormality of the bladder	10320	IKZF1	ORPHA:36426
HP:0000009	Functional abnormality of the bladder	83550	GPR101	ORPHA:963
HP:0000009	Functional abnormality of the bladder	9049	AIP	ORPHA:963
HP:0000009	Functional abnormality of the bladder	146206	CARMIL2	OMIM:618131
HP:0000009	Functional abnormality of the bladder	3251	HPRT1	ORPHA:79233
HP:0004423	Cranium bifidum occultum	257	ALX3	OMIM:136760
HP:0004423	Cranium bifidum occultum	257	ALX3	ORPHA:391474
HP:0004423	Cranium bifidum occultum	8092	ALX1	ORPHA:306542
HP:0004422	Biparietal narrowing	3192	HNRNPU	ORPHA:238769
HP:0004422	Biparietal narrowing	9851	KIAA0753	ORPHA:475
HP:0004422	Biparietal narrowing	9851	KIAA0753	ORPHA:2754
HP:0004422	Biparietal narrowing	5147	PDE6D	ORPHA:475
HP:0004422	Biparietal narrowing	5147	PDE6D	ORPHA:2754
HP:0004422	Biparietal narrowing	79600	TCTN1	ORPHA:475
HP:0004422	Biparietal narrowing	79848	CSPP1	ORPHA:475
HP:0004422	Biparietal narrowing	8481	OFD1	ORPHA:475
HP:0004422	Biparietal narrowing	8481	OFD1	ORPHA:2754
HP:0004422	Biparietal narrowing	51684	SUFU	ORPHA:475
HP:0004422	Biparietal narrowing	54806	AHI1	ORPHA:475
HP:0004422	Biparietal narrowing	54806	AHI1	ORPHA:220493
HP:0004422	Biparietal narrowing	153241	CEP120	ORPHA:475
HP:0004422	Biparietal narrowing	153241	CEP120	ORPHA:220493
HP:0004422	Biparietal narrowing	65250	CPLANE1	ORPHA:475
HP:0004422	Biparietal narrowing	65250	CPLANE1	ORPHA:2754
HP:0004422	Biparietal narrowing	91147	TMEM67	ORPHA:475
HP:0004422	Biparietal narrowing	91147	TMEM67	ORPHA:1454
HP:0004422	Biparietal narrowing	200894	ARL13B	ORPHA:475
HP:0004422	Biparietal narrowing	9731	CEP104	ORPHA:475
HP:0004422	Biparietal narrowing	219844	HYLS1	ORPHA:475
HP:0004422	Biparietal narrowing	23247	KATNIP	ORPHA:475
HP:0004422	Biparietal narrowing	219854	TMEM218	ORPHA:475
HP:0004422	Biparietal narrowing	54903	MKS1	ORPHA:475
HP:0004422	Biparietal narrowing	54903	MKS1	ORPHA:220493
HP:0004422	Biparietal narrowing	95681	CEP41	ORPHA:475
HP:0004422	Biparietal narrowing	95681	CEP41	ORPHA:220493
HP:0004422	Biparietal narrowing	9786	KIAA0586	ORPHA:475
HP:0004422	Biparietal narrowing	56623	INPP5E	ORPHA:475
HP:0004422	Biparietal narrowing	56623	INPP5E	ORPHA:1454
HP:0004422	Biparietal narrowing	56623	INPP5E	ORPHA:220493
HP:0004422	Biparietal narrowing	26123	TCTN3	ORPHA:475
HP:0004422	Biparietal narrowing	26123	TCTN3	ORPHA:2754
HP:0004422	Biparietal narrowing	79867	TCTN2	ORPHA:475
HP:0004422	Biparietal narrowing	80776	B9D2	ORPHA:475
HP:0004422	Biparietal narrowing	10464	PIBF1	ORPHA:475
HP:0004422	Biparietal narrowing	80210	ARMC9	ORPHA:475
HP:0004422	Biparietal narrowing	23116	TOGARAM1	ORPHA:475
HP:0004422	Biparietal narrowing	25776	CBY1	ORPHA:475
HP:0004422	Biparietal narrowing	27077	B9D1	ORPHA:475
HP:0004422	Biparietal narrowing	403	ARL3	ORPHA:475
HP:0004422	Biparietal narrowing	80173	IFT74	ORPHA:475
HP:0004422	Biparietal narrowing	65062	TMEM237	ORPHA:475
HP:0004422	Biparietal narrowing	65062	TMEM237	ORPHA:2318
HP:0004422	Biparietal narrowing	65062	TMEM237	ORPHA:220497
HP:0004422	Biparietal narrowing	6309	SC5D	ORPHA:46059
HP:0004422	Biparietal narrowing	5728	PTEN	OMIM:605309
HP:0004422	Biparietal narrowing	3265	HRAS	ORPHA:2612
HP:0004422	Biparietal narrowing	3845	KRAS	ORPHA:2612
HP:0004422	Biparietal narrowing	3845	KRAS	ORPHA:1340
HP:0004422	Biparietal narrowing	4893	NRAS	ORPHA:2612
HP:0004422	Biparietal narrowing	7291	TWIST1	OMIM:123100
HP:0004422	Biparietal narrowing	9326	ZNHIT3	ORPHA:2836
HP:0004422	Biparietal narrowing	85378	TUBGCP6	ORPHA:2518
HP:0004422	Biparietal narrowing	27229	TUBGCP4	ORPHA:2518
HP:0004422	Biparietal narrowing	10733	PLK4	ORPHA:2518
HP:0004422	Biparietal narrowing	5604	MAP2K1	ORPHA:1340
HP:0004422	Biparietal narrowing	5605	MAP2K2	ORPHA:1340
HP:0004422	Biparietal narrowing	673	BRAF	ORPHA:1340
HP:0004422	Biparietal narrowing	7518	XRCC4	ORPHA:99812
HP:0004422	Biparietal narrowing	3981	LIG4	ORPHA:99812
HP:0004422	Biparietal narrowing	10225	CD96	ORPHA:1308
HP:0004422	Biparietal narrowing	79583	TMEM231	ORPHA:2318
HP:0004422	Biparietal narrowing	79583	TMEM231	ORPHA:2754
HP:0004422	Biparietal narrowing	51524	TMEM138	ORPHA:2318
HP:0004422	Biparietal narrowing	23090	ZNF423	ORPHA:2318
HP:0004422	Biparietal narrowing	80184	CEP290	ORPHA:2318
HP:0004422	Biparietal narrowing	51259	TMEM216	ORPHA:2318
HP:0004422	Biparietal narrowing	51259	TMEM216	ORPHA:2754
HP:0004422	Biparietal narrowing	57545	CC2D2A	ORPHA:2318
HP:0004422	Biparietal narrowing	57545	CC2D2A	ORPHA:1454
HP:0004422	Biparietal narrowing	10210	TOPORS	ORPHA:2754
HP:0004422	Biparietal narrowing	317662	FAM149B1	ORPHA:2754
HP:0004422	Biparietal narrowing	374654	KIF7	ORPHA:2754
HP:0004422	Biparietal narrowing	2626	GATA4	ORPHA:251071
HP:0004422	Biparietal narrowing	29123	ANKRD11	ORPHA:261250
HP:0004422	Biparietal narrowing	23322	RPGRIP1L	ORPHA:220497
HP:0004422	Biparietal narrowing	23322	RPGRIP1L	ORPHA:1454
HP:0004422	Biparietal narrowing	4867	NPHP1	ORPHA:220497
HP:0004422	Biparietal narrowing	4212	MEIS2	ORPHA:261190
HP:0004422	Biparietal narrowing	8450	CUL4B	ORPHA:85293
HP:0004422	Biparietal narrowing	1717	DHCR7	ORPHA:818
HP:0004422	Biparietal narrowing	57192	MCOLN1	ORPHA:578
HP:0004421	Elevated systolic blood pressure	2321	FLT1	ORPHA:275555
HP:0004421	Elevated systolic blood pressure	219736	STOX1	ORPHA:275555
HP:0004421	Elevated systolic blood pressure	10699	CORIN	ORPHA:275555
HP:0004421	Elevated systolic blood pressure	554	AVPR2	OMIM:300539
HP:0004421	Elevated systolic blood pressure	4846	NOS3	OMIM:145500
HP:0004421	Elevated systolic blood pressure	1889	ECE1	OMIM:145500
HP:0004421	Elevated systolic blood pressure	5740	PTGIS	OMIM:145500
HP:0004421	Elevated systolic blood pressure	1577	CYP3A5	OMIM:145500
HP:0004421	Elevated systolic blood pressure	2784	GNB3	OMIM:145500
HP:0004421	Elevated systolic blood pressure	481	ATP1B1	OMIM:145500
HP:0004421	Elevated systolic blood pressure	8490	RGS5	OMIM:145500
HP:0004421	Elevated systolic blood pressure	118	ADD1	OMIM:145500
HP:0004421	Elevated systolic blood pressure	185	AGTR1	OMIM:145500
HP:0004420	Arterial thrombosis	26191	PTPN22	ORPHA:397
HP:0004420	Arterial thrombosis	3106	HLA-B	ORPHA:397
HP:0004420	Arterial thrombosis	3106	HLA-B	ORPHA:117
HP:0004420	Arterial thrombosis	3123	HLA-DRB1	ORPHA:397
HP:0004420	Arterial thrombosis	8974	P4HA2	ORPHA:397
HP:0004420	Arterial thrombosis	4352	MPL	ORPHA:71493
HP:0004420	Arterial thrombosis	4352	MPL	ORPHA:824
HP:0004420	Arterial thrombosis	4352	MPL	ORPHA:3318
HP:0004420	Arterial thrombosis	7066	THPO	ORPHA:71493
HP:0004420	Arterial thrombosis	3717	JAK2	ORPHA:71493
HP:0004420	Arterial thrombosis	3717	JAK2	ORPHA:729
HP:0004420	Arterial thrombosis	3717	JAK2	ORPHA:824
HP:0004420	Arterial thrombosis	3717	JAK2	ORPHA:3318
HP:0004420	Arterial thrombosis	875	CBS	ORPHA:394
HP:0004420	Arterial thrombosis	4625	MYH7	ORPHA:1880
HP:0004420	Arterial thrombosis	811	CALR	ORPHA:824
HP:0004420	Arterial thrombosis	811	CALR	ORPHA:3318
HP:0004420	Arterial thrombosis	54790	TET2	ORPHA:824
HP:0004420	Arterial thrombosis	54790	TET2	ORPHA:3318
HP:0004420	Arterial thrombosis	462	SERPINC1	ORPHA:82
HP:0004420	Arterial thrombosis	9103	FCGR2C	ORPHA:3002
HP:0004420	Arterial thrombosis	2147	F2	ORPHA:325
HP:0004420	Arterial thrombosis	5627	PROS1	ORPHA:743
HP:0004420	Arterial thrombosis	5627	PROS1	OMIM:614514
HP:0004420	Arterial thrombosis	5627	PROS1	OMIM:612336
HP:0004420	Arterial thrombosis	207	AKT1	ORPHA:744
HP:0004420	Arterial thrombosis	5277	PIGA	ORPHA:447
HP:0004420	Arterial thrombosis	10019	SH2B3	ORPHA:3318
HP:0004420	Arterial thrombosis	7157	TP53	ORPHA:3318
HP:0004420	Arterial thrombosis	149233	IL23R	ORPHA:117
HP:0004420	Arterial thrombosis	6775	STAT4	ORPHA:117
HP:0004420	Arterial thrombosis	3586	IL10	ORPHA:117
HP:0004420	Arterial thrombosis	4210	MEFV	ORPHA:117
HP:0004420	Arterial thrombosis	1230	CCR1	ORPHA:117
HP:0004420	Arterial thrombosis	355	FAS	ORPHA:117
HP:0004420	Arterial thrombosis	3592	IL12A	ORPHA:117
HP:0004420	Arterial thrombosis	101928376	IL12A-AS1	ORPHA:117
HP:0004420	Arterial thrombosis	7099	TLR4	ORPHA:117
HP:0004420	Arterial thrombosis	3459	IFNGR1	ORPHA:117
HP:0004420	Arterial thrombosis	720	C4A	ORPHA:117
HP:0004420	Arterial thrombosis	337867	UBAC2	ORPHA:117
HP:0004420	Arterial thrombosis	51752	ERAP1	ORPHA:117
HP:0004420	Arterial thrombosis	8302	KLRC4	ORPHA:117
HP:0004419	Recurrent thrombophlebitis	462	SERPINC1	OMIM:613118
HP:0004419	Recurrent thrombophlebitis	7042	TGFB2	OMIM:614816
HP:0004419	Recurrent thrombophlebitis	165	AEBP1	OMIM:618000
HP:0004419	Recurrent thrombophlebitis	2162	F13A1	OMIM:188050
HP:0004419	Recurrent thrombophlebitis	2147	F2	OMIM:188050
HP:0004419	Recurrent thrombophlebitis	3026	HABP2	OMIM:188050
HP:0004419	Recurrent thrombophlebitis	4524	MTHFR	OMIM:188050
HP:0004418	Thrombophlebitis	5624	PROC	OMIM:612304
HP:0004418	Thrombophlebitis	5624	PROC	OMIM:176860
HP:0004418	Thrombophlebitis	462	SERPINC1	ORPHA:82
HP:0004418	Thrombophlebitis	149233	IL23R	ORPHA:117
HP:0004418	Thrombophlebitis	6775	STAT4	ORPHA:117
HP:0004418	Thrombophlebitis	3586	IL10	ORPHA:117
HP:0004418	Thrombophlebitis	4210	MEFV	ORPHA:117
HP:0004418	Thrombophlebitis	1230	CCR1	ORPHA:117
HP:0004418	Thrombophlebitis	355	FAS	ORPHA:117
HP:0004418	Thrombophlebitis	3592	IL12A	ORPHA:117
HP:0004418	Thrombophlebitis	101928376	IL12A-AS1	ORPHA:117
HP:0004418	Thrombophlebitis	3106	HLA-B	ORPHA:117
HP:0004418	Thrombophlebitis	7099	TLR4	ORPHA:117
HP:0004418	Thrombophlebitis	3459	IFNGR1	ORPHA:117
HP:0004418	Thrombophlebitis	720	C4A	ORPHA:117
HP:0004418	Thrombophlebitis	337867	UBAC2	ORPHA:117
HP:0004418	Thrombophlebitis	51752	ERAP1	ORPHA:117
HP:0004418	Thrombophlebitis	8302	KLRC4	ORPHA:117
HP:0004418	Thrombophlebitis	9692	PRORP	OMIM:619737
HP:0004418	Thrombophlebitis	5627	PROS1	ORPHA:743
HP:0004418	Thrombophlebitis	207	AKT1	ORPHA:744
HP:0004418	Thrombophlebitis	7042	TGFB2	OMIM:614816
HP:0004418	Thrombophlebitis	165	AEBP1	OMIM:618000
HP:0004418	Thrombophlebitis	2162	F13A1	OMIM:188050
HP:0004418	Thrombophlebitis	2147	F2	OMIM:188050
HP:0004418	Thrombophlebitis	3026	HABP2	OMIM:188050
HP:0004418	Thrombophlebitis	4524	MTHFR	OMIM:188050
HP:0004417	Intermittent claudication	4907	NT5E	OMIM:211800
HP:0004417	Intermittent claudication	189	AGXT	OMIM:259900
HP:0004417	Intermittent claudication	3717	JAK2	ORPHA:729
HP:0004417	Intermittent claudication	5167	ENPP1	ORPHA:758
HP:0004417	Intermittent claudication	368	ABCC6	ORPHA:758
HP:0004417	Intermittent claudication	368	ABCC6	OMIM:264800
HP:0004417	Intermittent claudication	3593	IL12B	ORPHA:3287
HP:0004417	Intermittent claudication	3106	HLA-B	ORPHA:3287
HP:0004417	Intermittent claudication	6945	MLX	ORPHA:3287
HP:0004417	Intermittent claudication	64131	XYLT1	OMIM:264800
HP:0004417	Intermittent claudication	64132	XYLT2	OMIM:264800
HP:0004417	Intermittent claudication	165	AEBP1	OMIM:618000
HP:0004416	Precocious atherosclerosis	1593	CYP27A1	ORPHA:909
HP:0004416	Precocious atherosclerosis	3949	LDLR	ORPHA:391665
HP:0004416	Precocious atherosclerosis	255738	PCSK9	ORPHA:391665
HP:0004416	Precocious atherosclerosis	26119	LDLRAP1	ORPHA:391665
HP:0004416	Precocious atherosclerosis	338	APOB	ORPHA:391665
HP:0004416	Precocious atherosclerosis	64240	ABCG5	ORPHA:391665
HP:0004416	Precocious atherosclerosis	64241	ABCG8	ORPHA:391665
HP:0004416	Precocious atherosclerosis	7148	TNXB	ORPHA:230839
HP:0004416	Precocious atherosclerosis	4000	LMNA	ORPHA:280365
HP:0004416	Precocious atherosclerosis	4000	LMNA	OMIM:176670
HP:0004416	Precocious atherosclerosis	116519	APOA5	OMIM:145750
HP:0004416	Precocious atherosclerosis	4023	LPL	OMIM:238600
HP:0004415	Pulmonary artery stenosis	9968	MED12	OMIM:301068
HP:0004415	Pulmonary artery stenosis	2006	ELN	OMIM:185500
HP:0004415	Pulmonary artery stenosis	2294	FOXF1	OMIM:265380
HP:0004415	Pulmonary artery stenosis	6899	TBX1	ORPHA:3384
HP:0004415	Pulmonary artery stenosis	137814	NKX2-6	ORPHA:3384
HP:0004415	Pulmonary artery stenosis	23129	PLXND1	ORPHA:3384
HP:0004415	Pulmonary artery stenosis	6134	RPL10	OMIM:300998
HP:0004415	Pulmonary artery stenosis	6134	RPL10	ORPHA:459070
HP:0004415	Pulmonary artery stenosis	6134	RPL10	ORPHA:435938
HP:0004415	Pulmonary artery stenosis	81031	SLC2A10	OMIM:208050
HP:0004415	Pulmonary artery stenosis	81031	SLC2A10	ORPHA:3342
HP:0004415	Pulmonary artery stenosis	25885	POLR1A	OMIM:616462
HP:0004415	Pulmonary artery stenosis	8260	NAA10	OMIM:300855
HP:0004415	Pulmonary artery stenosis	8260	NAA10	ORPHA:276432
HP:0004415	Pulmonary artery stenosis	1272	CNTN1	OMIM:612540
HP:0004415	Pulmonary artery stenosis	10082	GPC6	OMIM:258315
HP:0004415	Pulmonary artery stenosis	9487	PIGL	OMIM:280000
HP:0004415	Pulmonary artery stenosis	9681	DEPDC5	OMIM:620504
HP:0004415	Pulmonary artery stenosis	64919	BCL11B	OMIM:617237
HP:0004415	Pulmonary artery stenosis	57514	ARHGAP31	OMIM:100300
HP:0004415	Pulmonary artery stenosis	2627	GATA6	ORPHA:2255
HP:0004415	Pulmonary artery stenosis	2627	GATA6	OMIM:600001
HP:0004415	Pulmonary artery stenosis	85459	CEP295	OMIM:620767
HP:0004415	Pulmonary artery stenosis	22800	RRAS2	ORPHA:648
HP:0004415	Pulmonary artery stenosis	867	CBL	ORPHA:648
HP:0004415	Pulmonary artery stenosis	8216	LZTR1	ORPHA:648
HP:0004415	Pulmonary artery stenosis	8216	LZTR1	OMIM:605275
HP:0004415	Pulmonary artery stenosis	6016	RIT1	ORPHA:648
HP:0004415	Pulmonary artery stenosis	6237	RRAS	ORPHA:648
HP:0004415	Pulmonary artery stenosis	5894	RAF1	ORPHA:648
HP:0004415	Pulmonary artery stenosis	22808	MRAS	ORPHA:648
HP:0004415	Pulmonary artery stenosis	3845	KRAS	ORPHA:648
HP:0004415	Pulmonary artery stenosis	200734	SPRED2	ORPHA:648
HP:0004415	Pulmonary artery stenosis	4893	NRAS	ORPHA:648
HP:0004415	Pulmonary artery stenosis	6654	SOS1	ORPHA:648
HP:0004415	Pulmonary artery stenosis	6655	SOS2	ORPHA:648
HP:0004415	Pulmonary artery stenosis	5781	PTPN11	ORPHA:648
HP:0004415	Pulmonary artery stenosis	5922	RASA2	ORPHA:648
HP:0004415	Pulmonary artery stenosis	7486	WRN	ORPHA:902
HP:0004415	Pulmonary artery stenosis	54361	WNT4	OMIM:611812
HP:0004415	Pulmonary artery stenosis	9839	ZEB2	OMIM:235730
HP:0004415	Pulmonary artery stenosis	415	ARSL	ORPHA:79345
HP:0004415	Pulmonary artery stenosis	10312	TCIRG1	ORPHA:667
HP:0004415	Pulmonary artery stenosis	1186	CLCN7	ORPHA:667
HP:0004415	Pulmonary artery stenosis	29887	SNX10	ORPHA:667
HP:0004415	Pulmonary artery stenosis	8600	TNFSF11	ORPHA:667
HP:0004415	Pulmonary artery stenosis	2626	GATA4	ORPHA:251071
HP:0004415	Pulmonary artery stenosis	5422	POLA1	OMIM:301030
HP:0004415	Pulmonary artery stenosis	93233	ODAD1	OMIM:615067
HP:0004415	Pulmonary artery stenosis	4256	MGP	ORPHA:85202
HP:0004415	Pulmonary artery stenosis	92002	CCNQ	ORPHA:140952
HP:0004415	Pulmonary artery stenosis	1482	NKX2-5	OMIM:614432
HP:0004415	Pulmonary artery stenosis	388015	RTL1	ORPHA:96334
HP:0004415	Pulmonary artery stenosis	8788	DLK1	ORPHA:96334
HP:0004415	Pulmonary artery stenosis	55384	MEG3	ORPHA:96334
HP:0004415	Pulmonary artery stenosis	57551	TAOK1	OMIM:619575
HP:0004415	Pulmonary artery stenosis	182	JAG1	OMIM:617992
HP:0004415	Pulmonary artery stenosis	182	JAG1	OMIM:118450
HP:0004415	Pulmonary artery stenosis	54880	BCOR	ORPHA:2712
HP:0004415	Pulmonary artery stenosis	8425	LTBP4	OMIM:613177
HP:0004415	Pulmonary artery stenosis	10516	FBLN5	ORPHA:90348
HP:0004415	Pulmonary artery stenosis	10516	FBLN5	ORPHA:90349
HP:0004415	Pulmonary artery stenosis	10516	FBLN5	OMIM:219100
HP:0004415	Pulmonary artery stenosis	5832	ALDH18A1	ORPHA:90348
HP:0004415	Pulmonary artery stenosis	4052	LTBP1	ORPHA:90349
HP:0004415	Pulmonary artery stenosis	30008	EFEMP2	ORPHA:90349
HP:0004415	Pulmonary artery stenosis	6804	STX1A	ORPHA:904
HP:0004415	Pulmonary artery stenosis	7461	CLIP2	ORPHA:904
HP:0004415	Pulmonary artery stenosis	84277	DNAJC30	ORPHA:904
HP:0004415	Pulmonary artery stenosis	8468	FKBP6	ORPHA:904
HP:0004415	Pulmonary artery stenosis	5982	RFC2	ORPHA:904
HP:0004415	Pulmonary artery stenosis	2969	GTF2I	ORPHA:904
HP:0004415	Pulmonary artery stenosis	3984	LIMK1	ORPHA:904
HP:0004415	Pulmonary artery stenosis	9569	GTF2IRD1	ORPHA:904
HP:0004415	Pulmonary artery stenosis	155382	VPS37D	ORPHA:904
HP:0004415	Pulmonary artery stenosis	155368	METTL27	ORPHA:904
HP:0004415	Pulmonary artery stenosis	114049	BUD23	ORPHA:904
HP:0004415	Pulmonary artery stenosis	7458	EIF4H	ORPHA:904
HP:0004415	Pulmonary artery stenosis	84163	GTF2IRD2	ORPHA:904
HP:0004415	Pulmonary artery stenosis	26608	TBL2	ORPHA:904
HP:0004415	Pulmonary artery stenosis	653361	NCF1	ORPHA:904
HP:0004415	Pulmonary artery stenosis	135886	TMEM270	ORPHA:904
HP:0004415	Pulmonary artery stenosis	9031	BAZ1B	ORPHA:904
HP:0004415	Pulmonary artery stenosis	84720	PIGO	OMIM:614749
HP:0004415	Pulmonary artery stenosis	4853	NOTCH2	OMIM:610205
HP:0004415	Pulmonary artery stenosis	23556	PIGN	ORPHA:280633
HP:0004415	Pulmonary artery stenosis	112752	IFT43	OMIM:614099
HP:0004415	Pulmonary artery stenosis	2260	FGFR1	OMIM:613001
HP:0004415	Pulmonary artery stenosis	9652	SKIC3	ORPHA:84064
HP:0004415	Pulmonary artery stenosis	6499	SKIC2	ORPHA:84064
HP:0004415	Pulmonary artery stenosis	5500	PPP1CB	OMIM:617506
HP:0004415	Pulmonary artery stenosis	7319	UBE2A	ORPHA:163956
HP:0004415	Pulmonary artery stenosis	51085	MLXIPL	OMIM:194050
HP:0004414	Abnormality of the pulmonary artery	9839	ZEB2	ORPHA:261537
HP:0004414	Abnormality of the pulmonary artery	9839	ZEB2	ORPHA:261552
HP:0004414	Abnormality of the pulmonary artery	4286	MITF	ORPHA:895
HP:0004414	Abnormality of the pulmonary artery	7299	TYR	ORPHA:895
HP:0004414	Abnormality of the pulmonary artery	6591	SNAI2	ORPHA:895
HP:0004414	Abnormality of the pulmonary artery	1910	EDNRB	ORPHA:895
HP:0004414	Abnormality of the pulmonary artery	4254	KITLG	ORPHA:895
HP:0004414	Abnormality of the pulmonary artery	6663	SOX10	ORPHA:895
HP:0004414	Abnormality of the pulmonary artery	4000	LMNA	ORPHA:363618
HP:0004414	Abnormality of the pulmonary artery	4000	LMNA	ORPHA:79474
HP:0004414	Abnormality of the pulmonary artery	145173	B3GLCT	ORPHA:709
HP:0004414	Abnormality of the pulmonary artery	5080	PAX6	ORPHA:1065
HP:0004414	Abnormality of the pulmonary artery	3708	ITPR1	ORPHA:1065
HP:0004414	Abnormality of the pulmonary artery	55109	AGGF1	ORPHA:90308
HP:0004414	Abnormality of the pulmonary artery	5290	PIK3CA	ORPHA:90308
HP:0004414	Abnormality of the pulmonary artery	5781	PTPN11	ORPHA:500
HP:0004414	Abnormality of the pulmonary artery	673	BRAF	ORPHA:500
HP:0004414	Abnormality of the pulmonary artery	5894	RAF1	ORPHA:500
HP:0004414	Abnormality of the pulmonary artery	9968	MED12	OMIM:301068
HP:0004414	Abnormality of the pulmonary artery	2006	ELN	OMIM:185500
HP:0004414	Abnormality of the pulmonary artery	2294	FOXF1	OMIM:265380
HP:0004414	Abnormality of the pulmonary artery	6899	TBX1	ORPHA:3384
HP:0004414	Abnormality of the pulmonary artery	137814	NKX2-6	ORPHA:3384
HP:0004414	Abnormality of the pulmonary artery	23129	PLXND1	ORPHA:3384
HP:0004414	Abnormality of the pulmonary artery	6134	RPL10	OMIM:300998
HP:0004414	Abnormality of the pulmonary artery	6134	RPL10	ORPHA:459070
HP:0004414	Abnormality of the pulmonary artery	6134	RPL10	ORPHA:435938
HP:0004414	Abnormality of the pulmonary artery	81031	SLC2A10	OMIM:208050
HP:0004414	Abnormality of the pulmonary artery	81031	SLC2A10	ORPHA:3342
HP:0004414	Abnormality of the pulmonary artery	25885	POLR1A	OMIM:616462
HP:0004414	Abnormality of the pulmonary artery	8260	NAA10	OMIM:300855
HP:0004414	Abnormality of the pulmonary artery	8260	NAA10	ORPHA:276432
HP:0004414	Abnormality of the pulmonary artery	1272	CNTN1	OMIM:612540
HP:0004414	Abnormality of the pulmonary artery	10082	GPC6	OMIM:258315
HP:0004414	Abnormality of the pulmonary artery	9487	PIGL	OMIM:280000
HP:0004414	Abnormality of the pulmonary artery	9681	DEPDC5	OMIM:620504
HP:0004414	Abnormality of the pulmonary artery	64919	BCL11B	OMIM:617237
HP:0004414	Abnormality of the pulmonary artery	57514	ARHGAP31	OMIM:100300
HP:0004414	Abnormality of the pulmonary artery	2627	GATA6	ORPHA:2255
HP:0004414	Abnormality of the pulmonary artery	2627	GATA6	OMIM:600001
HP:0004414	Abnormality of the pulmonary artery	85459	CEP295	OMIM:620767
HP:0004414	Abnormality of the pulmonary artery	22800	RRAS2	ORPHA:648
HP:0004414	Abnormality of the pulmonary artery	867	CBL	ORPHA:648
HP:0004414	Abnormality of the pulmonary artery	8216	LZTR1	ORPHA:648
HP:0004414	Abnormality of the pulmonary artery	8216	LZTR1	OMIM:605275
HP:0004414	Abnormality of the pulmonary artery	6016	RIT1	ORPHA:648
HP:0004414	Abnormality of the pulmonary artery	6237	RRAS	ORPHA:648
HP:0004414	Abnormality of the pulmonary artery	22808	MRAS	ORPHA:648
HP:0004414	Abnormality of the pulmonary artery	3845	KRAS	ORPHA:648
HP:0004414	Abnormality of the pulmonary artery	200734	SPRED2	ORPHA:648
HP:0004414	Abnormality of the pulmonary artery	4893	NRAS	ORPHA:648
HP:0004414	Abnormality of the pulmonary artery	6654	SOS1	ORPHA:648
HP:0004414	Abnormality of the pulmonary artery	6655	SOS2	ORPHA:648
HP:0004414	Abnormality of the pulmonary artery	5922	RASA2	ORPHA:648
HP:0004414	Abnormality of the pulmonary artery	7486	WRN	ORPHA:902
HP:0004414	Abnormality of the pulmonary artery	54361	WNT4	OMIM:611812
HP:0004414	Abnormality of the pulmonary artery	415	ARSL	ORPHA:79345
HP:0004414	Abnormality of the pulmonary artery	10312	TCIRG1	ORPHA:667
HP:0004414	Abnormality of the pulmonary artery	1186	CLCN7	ORPHA:667
HP:0004414	Abnormality of the pulmonary artery	29887	SNX10	ORPHA:667
HP:0004414	Abnormality of the pulmonary artery	8600	TNFSF11	ORPHA:667
HP:0004414	Abnormality of the pulmonary artery	2626	GATA4	ORPHA:251071
HP:0004414	Abnormality of the pulmonary artery	5422	POLA1	OMIM:301030
HP:0004414	Abnormality of the pulmonary artery	93233	ODAD1	OMIM:615067
HP:0004414	Abnormality of the pulmonary artery	4256	MGP	ORPHA:85202
HP:0004414	Abnormality of the pulmonary artery	92002	CCNQ	ORPHA:140952
HP:0004414	Abnormality of the pulmonary artery	1482	NKX2-5	OMIM:614432
HP:0004414	Abnormality of the pulmonary artery	388015	RTL1	ORPHA:96334
HP:0004414	Abnormality of the pulmonary artery	8788	DLK1	ORPHA:96334
HP:0004414	Abnormality of the pulmonary artery	55384	MEG3	ORPHA:96334
HP:0004414	Abnormality of the pulmonary artery	30008	EFEMP2	OMIM:614437
HP:0004414	Abnormality of the pulmonary artery	59	ACTA2	OMIM:613834
HP:0004414	Abnormality of the pulmonary artery	171019	ADAMTS19	OMIM:620067
HP:0004414	Abnormality of the pulmonary artery	79989	IFT56	OMIM:619534
HP:0004414	Abnormality of the pulmonary artery	2200	FBN1	OMIM:154700
HP:0004414	Abnormality of the pulmonary artery	7092	TLL1	ORPHA:99106
HP:0004414	Abnormality of the pulmonary artery	5337	PLD1	OMIM:212093
HP:0004414	Abnormality of the pulmonary artery	78987	CRELD1	OMIM:606217
HP:0004414	Abnormality of the pulmonary artery	84231	TRAF7	OMIM:618164
HP:0004414	Abnormality of the pulmonary artery	2324	FLT4	OMIM:618780
HP:0004414	Abnormality of the pulmonary artery	2657	GDF1	OMIM:208530
HP:0004414	Abnormality of the pulmonary artery	2657	GDF1	OMIM:613854
HP:0004414	Abnormality of the pulmonary artery	93	ACVR2B	OMIM:613751
HP:0004414	Abnormality of the pulmonary artery	23476	BRD4	OMIM:620568
HP:0004414	Abnormality of the pulmonary artery	118856	MMP21	OMIM:616749
HP:0004414	Abnormality of the pulmonary artery	8772	FADD	OMIM:613759
HP:0004414	Abnormality of the pulmonary artery	8772	FADD	ORPHA:306550
HP:0004414	Abnormality of the pulmonary artery	4838	NODAL	OMIM:270100
HP:0004414	Abnormality of the pulmonary artery	64220	STRA6	OMIM:601186
HP:0004414	Abnormality of the pulmonary artery	6597	SMARCA4	OMIM:614609
HP:0004414	Abnormality of the pulmonary artery	55593	OTUD5	OMIM:301056
HP:0004414	Abnormality of the pulmonary artery	1857	DVL3	OMIM:616894
HP:0004414	Abnormality of the pulmonary artery	168507	PKD1L1	OMIM:617205
HP:0004414	Abnormality of the pulmonary artery	55636	CHD7	OMIM:214800
HP:0004414	Abnormality of the pulmonary artery	9772	TMEM94	OMIM:618316
HP:0004414	Abnormality of the pulmonary artery	100128908	CIROP	OMIM:619702
HP:0004414	Abnormality of the pulmonary artery	54487	DGCR8	OMIM:192430
HP:0004414	Abnormality of the pulmonary artery	8214	DGCR6	OMIM:192430
HP:0004414	Abnormality of the pulmonary artery	8220	ESS2	OMIM:192430
HP:0004414	Abnormality of the pulmonary artery	9993	DGCR2	OMIM:192430
HP:0004414	Abnormality of the pulmonary artery	118924	FRA10AC1	OMIM:620113
HP:0004414	Abnormality of the pulmonary artery	3516	RBPJ	ORPHA:974
HP:0004414	Abnormality of the pulmonary artery	4851	NOTCH1	ORPHA:974
HP:0004414	Abnormality of the pulmonary artery	57572	DOCK6	ORPHA:974
HP:0004414	Abnormality of the pulmonary artery	285203	EOGT	ORPHA:974
HP:0004414	Abnormality of the pulmonary artery	54567	DLL4	ORPHA:974
HP:0004414	Abnormality of the pulmonary artery	90952	ESAM	OMIM:620371
HP:0004414	Abnormality of the pulmonary artery	7046	TGFBR1	OMIM:609192
HP:0004414	Abnormality of the pulmonary artery	7048	TGFBR2	OMIM:610168
HP:0004414	Abnormality of the pulmonary artery	1281	COL3A1	ORPHA:286
HP:0004414	Abnormality of the pulmonary artery	1289	COL5A1	OMIM:619329
HP:0004414	Abnormality of the pulmonary artery	633	BGN	OMIM:300989
HP:0004414	Abnormality of the pulmonary artery	10526	IPO8	OMIM:619472
HP:0004414	Abnormality of the pulmonary artery	10491	CRTAP	OMIM:610682
HP:0004414	Abnormality of the pulmonary artery	55181	SMG8	OMIM:619268
HP:0004414	Abnormality of the pulmonary artery	3977	LIFR	OMIM:601559
HP:0004414	Abnormality of the pulmonary artery	659	BMPR2	OMIM:178600
HP:0004414	Abnormality of the pulmonary artery	57551	TAOK1	OMIM:619575
HP:0004414	Abnormality of the pulmonary artery	182	JAG1	OMIM:617992
HP:0004414	Abnormality of the pulmonary artery	182	JAG1	OMIM:118450
HP:0004414	Abnormality of the pulmonary artery	54880	BCOR	ORPHA:2712
HP:0004414	Abnormality of the pulmonary artery	8425	LTBP4	OMIM:613177
HP:0004414	Abnormality of the pulmonary artery	10516	FBLN5	ORPHA:90348
HP:0004414	Abnormality of the pulmonary artery	10516	FBLN5	ORPHA:90349
HP:0004414	Abnormality of the pulmonary artery	10516	FBLN5	OMIM:219100
HP:0004414	Abnormality of the pulmonary artery	5832	ALDH18A1	ORPHA:90348
HP:0004414	Abnormality of the pulmonary artery	4052	LTBP1	ORPHA:90349
HP:0004414	Abnormality of the pulmonary artery	6804	STX1A	ORPHA:904
HP:0004414	Abnormality of the pulmonary artery	7461	CLIP2	ORPHA:904
HP:0004414	Abnormality of the pulmonary artery	84277	DNAJC30	ORPHA:904
HP:0004414	Abnormality of the pulmonary artery	8468	FKBP6	ORPHA:904
HP:0004414	Abnormality of the pulmonary artery	5982	RFC2	ORPHA:904
HP:0004414	Abnormality of the pulmonary artery	2969	GTF2I	ORPHA:904
HP:0004414	Abnormality of the pulmonary artery	3984	LIMK1	ORPHA:904
HP:0004414	Abnormality of the pulmonary artery	9569	GTF2IRD1	ORPHA:904
HP:0004414	Abnormality of the pulmonary artery	155382	VPS37D	ORPHA:904
HP:0004414	Abnormality of the pulmonary artery	155368	METTL27	ORPHA:904
HP:0004414	Abnormality of the pulmonary artery	114049	BUD23	ORPHA:904
HP:0004414	Abnormality of the pulmonary artery	7458	EIF4H	ORPHA:904
HP:0004414	Abnormality of the pulmonary artery	84163	GTF2IRD2	ORPHA:904
HP:0004414	Abnormality of the pulmonary artery	26608	TBL2	ORPHA:904
HP:0004414	Abnormality of the pulmonary artery	653361	NCF1	ORPHA:904
HP:0004414	Abnormality of the pulmonary artery	135886	TMEM270	ORPHA:904
HP:0004414	Abnormality of the pulmonary artery	9031	BAZ1B	ORPHA:904
HP:0004414	Abnormality of the pulmonary artery	84720	PIGO	OMIM:614749
HP:0004414	Abnormality of the pulmonary artery	4853	NOTCH2	OMIM:610205
HP:0004414	Abnormality of the pulmonary artery	23556	PIGN	ORPHA:280633
HP:0004414	Abnormality of the pulmonary artery	112752	IFT43	OMIM:614099
HP:0004414	Abnormality of the pulmonary artery	2260	FGFR1	OMIM:613001
HP:0004414	Abnormality of the pulmonary artery	9652	SKIC3	ORPHA:84064
HP:0004414	Abnormality of the pulmonary artery	6499	SKIC2	ORPHA:84064
HP:0004414	Abnormality of the pulmonary artery	5500	PPP1CB	OMIM:617506
HP:0004414	Abnormality of the pulmonary artery	7319	UBE2A	ORPHA:163956
HP:0004414	Abnormality of the pulmonary artery	51085	MLXIPL	OMIM:194050
HP:0004414	Abnormality of the pulmonary artery	10293	TRAIP	OMIM:616777
HP:0004414	Abnormality of the pulmonary artery	10157	AASS	ORPHA:2203
HP:0004414	Abnormality of the pulmonary artery	4625	MYH7	OMIM:613426
HP:0004414	Abnormality of the pulmonary artery	8854	ALDH1A2	OMIM:620025
HP:0004414	Abnormality of the pulmonary artery	28952	CCDC22	OMIM:300963
HP:0004434	Decreased circulating complement C8 concentration	732	C8B	OMIM:613789
HP:0004434	Decreased circulating complement C8 concentration	731	C8A	OMIM:613790
HP:0004433	Secretory IgA deficiency	6651	SON	ORPHA:500150
HP:0004432	Agammaglobulinemia	695	BTK	ORPHA:47
HP:0004432	Agammaglobulinemia	695	BTK	OMIM:300755
HP:0004432	Agammaglobulinemia	3551	IKBKB	OMIM:615592
HP:0004432	Agammaglobulinemia	57217	TTC7A	OMIM:243150
HP:0004432	Agammaglobulinemia	7922	SLC39A7	OMIM:619693
HP:0004432	Agammaglobulinemia	7922	SLC39A7	ORPHA:33110
HP:0004432	Agammaglobulinemia	5295	PIK3R1	OMIM:615214
HP:0004432	Agammaglobulinemia	5295	PIK3R1	ORPHA:33110
HP:0004432	Agammaglobulinemia	4261	CIITA	OMIM:209920
HP:0004432	Agammaglobulinemia	6929	TCF3	OMIM:616941
HP:0004432	Agammaglobulinemia	6929	TCF3	OMIM:619824
HP:0004432	Agammaglobulinemia	6929	TCF3	ORPHA:33110
HP:0004432	Agammaglobulinemia	3507	IGHM	OMIM:601495
HP:0004432	Agammaglobulinemia	3507	IGHM	ORPHA:33110
HP:0004432	Agammaglobulinemia	1678	TIMM8A	ORPHA:52368
HP:0004432	Agammaglobulinemia	3561	IL2RG	OMIM:300400
HP:0004432	Agammaglobulinemia	974	CD79B	OMIM:612692
HP:0004432	Agammaglobulinemia	974	CD79B	ORPHA:33110
HP:0004432	Agammaglobulinemia	96459	FNIP1	OMIM:619705
HP:0004432	Agammaglobulinemia	6688	SPI1	OMIM:619707
HP:0004432	Agammaglobulinemia	6688	SPI1	ORPHA:33110
HP:0004432	Agammaglobulinemia	973	CD79A	OMIM:613501
HP:0004432	Agammaglobulinemia	973	CD79A	ORPHA:33110
HP:0004432	Agammaglobulinemia	3543	IGLL1	OMIM:613500
HP:0004432	Agammaglobulinemia	3543	IGLL1	ORPHA:33110
HP:0004432	Agammaglobulinemia	3070	HELLS	OMIM:616911
HP:0004432	Agammaglobulinemia	84433	CARD11	OMIM:615206
HP:0004432	Agammaglobulinemia	83879	CDCA7	OMIM:616910
HP:0004432	Agammaglobulinemia	29760	BLNK	OMIM:613502
HP:0004432	Agammaglobulinemia	29760	BLNK	ORPHA:33110
HP:0004432	Agammaglobulinemia	56262	LRRC8A	OMIM:613506
HP:0004432	Agammaglobulinemia	56262	LRRC8A	ORPHA:33110
HP:0004431	Reduced circulating complement concentration	9056	SLC7A7	ORPHA:470
HP:0004431	Reduced circulating complement concentration	10747	MASP2	OMIM:613791
HP:0004431	Reduced circulating complement concentration	1776	DNASE1L3	ORPHA:36412
HP:0004431	Reduced circulating complement concentration	2584	GALK1	ORPHA:79237
HP:0004431	Reduced circulating complement concentration	732	C8B	OMIM:613789
HP:0004431	Reduced circulating complement concentration	731	C8A	OMIM:613790
HP:0004431	Reduced circulating complement concentration	712	C1QA	OMIM:613652
HP:0004431	Reduced circulating complement concentration	3426	CFI	OMIM:610984
HP:0004431	Reduced circulating complement concentration	10878	CFHR3	OMIM:235400
HP:0004431	Reduced circulating complement concentration	3075	CFH	OMIM:235400
HP:0004431	Reduced circulating complement concentration	3078	CFHR1	OMIM:235400
HP:0004431	Reduced circulating complement concentration	629	CFB	OMIM:615561
HP:0004431	Reduced circulating complement concentration	5580	PRKCD	OMIM:615559
HP:0004431	Reduced circulating complement concentration	84823	LMNB2	ORPHA:79087
HP:0004431	Reduced circulating complement concentration	84823	LMNB2	OMIM:608709
HP:0004431	Reduced circulating complement concentration	4179	CD46	OMIM:612922
HP:0004431	Reduced circulating complement concentration	6775	STAT4	ORPHA:93552
HP:0004431	Reduced circulating complement concentration	6775	STAT4	ORPHA:536
HP:0004431	Reduced circulating complement concentration	6696	SPP1	ORPHA:93552
HP:0004431	Reduced circulating complement concentration	6696	SPP1	ORPHA:536
HP:0004431	Reduced circulating complement concentration	6303	SAT1	ORPHA:93552
HP:0004431	Reduced circulating complement concentration	3654	IRAK1	ORPHA:93552
HP:0004431	Reduced circulating complement concentration	3654	IRAK1	ORPHA:536
HP:0004431	Reduced circulating complement concentration	718	C3	OMIM:613779
HP:0004431	Reduced circulating complement concentration	718	C3	OMIM:612925
HP:0004431	Reduced circulating complement concentration	7056	THBD	OMIM:612926
HP:0004431	Reduced circulating complement concentration	51284	TLR7	OMIM:301080
HP:0004431	Reduced circulating complement concentration	51284	TLR7	ORPHA:536
HP:0004431	Reduced circulating complement concentration	55690	PACS1	ORPHA:329224
HP:0004431	Reduced circulating complement concentration	5335	PLCG1	OMIM:620514
HP:0004431	Reduced circulating complement concentration	2215	FCGR3B	ORPHA:536
HP:0004431	Reduced circulating complement concentration	3684	ITGAM	ORPHA:536
HP:0004431	Reduced circulating complement concentration	3586	IL10	ORPHA:536
HP:0004431	Reduced circulating complement concentration	221895	JAZF1	ORPHA:536
HP:0004431	Reduced circulating complement concentration	11277	TREX1	ORPHA:536
HP:0004431	Reduced circulating complement concentration	7292	TNFSF4	ORPHA:536
HP:0004431	Reduced circulating complement concentration	640	BLK	ORPHA:536
HP:0004431	Reduced circulating complement concentration	720	C4A	ORPHA:536
HP:0004431	Reduced circulating complement concentration	55024	BANK1	ORPHA:536
HP:0004431	Reduced circulating complement concentration	3500	IGHG1	ORPHA:536
HP:0004431	Reduced circulating complement concentration	1493	CTLA4	ORPHA:536
HP:0004431	Reduced circulating complement concentration	26191	PTPN22	ORPHA:536
HP:0004431	Reduced circulating complement concentration	1380	CR2	ORPHA:536
HP:0004431	Reduced circulating complement concentration	5133	PDCD1	ORPHA:536
HP:0004431	Reduced circulating complement concentration	2113	ETS1	ORPHA:536
HP:0004431	Reduced circulating complement concentration	2213	FCGR2B	ORPHA:536
HP:0004431	Reduced circulating complement concentration	10318	TNIP1	ORPHA:536
HP:0004431	Reduced circulating complement concentration	7332	UBE2L3	ORPHA:536
HP:0004431	Reduced circulating complement concentration	79932	KIAA0319L	ORPHA:536
HP:0004431	Reduced circulating complement concentration	4204	MECP2	ORPHA:536
HP:0004431	Reduced circulating complement concentration	3663	IRF5	ORPHA:536
HP:0004431	Reduced circulating complement concentration	3123	HLA-DRB1	ORPHA:536
HP:0004431	Reduced circulating complement concentration	721	C4B	ORPHA:536
HP:0004431	Reduced circulating complement concentration	1773	DNASE1	ORPHA:536
HP:0004431	Reduced circulating complement concentration	54899	PXK	ORPHA:536
HP:0004431	Reduced circulating complement concentration	7128	TNFAIP3	ORPHA:536
HP:0004431	Reduced circulating complement concentration	1675	CFD	OMIM:613912
HP:0004431	Reduced circulating complement concentration	735	C9	OMIM:613825
HP:0004431	Reduced circulating complement concentration	730	C7	OMIM:610102
HP:0004431	Reduced circulating complement concentration	729	C6	OMIM:612446
HP:0004431	Reduced circulating complement concentration	727	C5	OMIM:609536
HP:0004431	Reduced circulating complement concentration	714	C1QC	OMIM:620322
HP:0004431	Reduced circulating complement concentration	713	C1QB	OMIM:620321
HP:0004431	Reduced circulating complement concentration	710	SERPING1	OMIM:106100
HP:0004430	Severe combined immunodeficiency	2137	EXTL3	ORPHA:508533
HP:0004430	Severe combined immunodeficiency	2137	EXTL3	OMIM:617425
HP:0004430	Severe combined immunodeficiency	5896	RAG1	ORPHA:231154
HP:0004430	Severe combined immunodeficiency	5896	RAG1	OMIM:601457
HP:0004430	Severe combined immunodeficiency	5896	RAG1	ORPHA:39041
HP:0004430	Severe combined immunodeficiency	4860	PNP	ORPHA:760
HP:0004430	Severe combined immunodeficiency	5897	RAG2	OMIM:601457
HP:0004430	Severe combined immunodeficiency	5897	RAG2	ORPHA:39041
HP:0004430	Severe combined immunodeficiency	4522	MTHFD1	OMIM:617780
HP:0004430	Severe combined immunodeficiency	3718	JAK3	OMIM:600802
HP:0004430	Severe combined immunodeficiency	57217	TTC7A	OMIM:243150
HP:0004430	Severe combined immunodeficiency	57217	TTC7A	ORPHA:436252
HP:0004430	Severe combined immunodeficiency	3561	IL2RG	OMIM:300400
HP:0004430	Severe combined immunodeficiency	3561	IL2RG	ORPHA:39041
HP:0004430	Severe combined immunodeficiency	100	ADA	OMIM:102700
HP:0004430	Severe combined immunodeficiency	100	ADA	ORPHA:39041
HP:0004430	Severe combined immunodeficiency	64919	BCL11B	OMIM:617237
HP:0004430	Severe combined immunodeficiency	5591	PRKDC	OMIM:615966
HP:0004430	Severe combined immunodeficiency	5238	PGM3	ORPHA:443811
HP:0004430	Severe combined immunodeficiency	5297	PI4KA	ORPHA:436252
HP:0004430	Severe combined immunodeficiency	7518	XRCC4	ORPHA:99812
HP:0004430	Severe combined immunodeficiency	3981	LIG4	ORPHA:99812
HP:0004430	Severe combined immunodeficiency	3981	LIG4	ORPHA:39041
HP:0004430	Severe combined immunodeficiency	6023	RMRP	ORPHA:39041
HP:0004430	Severe combined immunodeficiency	55636	CHD7	ORPHA:39041
HP:0004430	Severe combined immunodeficiency	64421	DCLRE1C	ORPHA:39041
HP:0004430	Severe combined immunodeficiency	64421	DCLRE1C	OMIM:602450
HP:0004430	Severe combined immunodeficiency	3575	IL7R	ORPHA:39041
HP:0004430	Severe combined immunodeficiency	3575	IL7R	OMIM:608971
HP:0004430	Severe combined immunodeficiency	915	CD3D	OMIM:615617
HP:0004430	Severe combined immunodeficiency	204	AK2	ORPHA:33355
HP:0004429	Recurrent viral infections	3507	IGHM	OMIM:601495
HP:0004429	Recurrent viral infections	695	BTK	OMIM:307200
HP:0004429	Recurrent viral infections	64421	DCLRE1C	ORPHA:275
HP:0004429	Recurrent viral infections	64421	DCLRE1C	OMIM:603554
HP:0004429	Recurrent viral infections	4791	NFKB2	ORPHA:293978
HP:0004429	Recurrent viral infections	4261	CIITA	OMIM:209920
HP:0004429	Recurrent viral infections	4261	CIITA	ORPHA:572
HP:0004429	Recurrent viral infections	9636	ISG15	OMIM:616126
HP:0004429	Recurrent viral infections	4860	PNP	OMIM:613179
HP:0004429	Recurrent viral infections	5238	PGM3	ORPHA:443811
HP:0004429	Recurrent viral infections	6789	STK4	OMIM:614868
HP:0004429	Recurrent viral infections	5293	PIK3CD	ORPHA:221139
HP:0004429	Recurrent viral infections	90417	KNSTRN	ORPHA:221139
HP:0004429	Recurrent viral infections	4173	MCM4	OMIM:609981
HP:0004429	Recurrent viral infections	5896	RAG1	OMIM:603554
HP:0004429	Recurrent viral infections	5896	RAG1	ORPHA:331206
HP:0004429	Recurrent viral infections	5897	RAG2	OMIM:603554
HP:0004429	Recurrent viral infections	5897	RAG2	ORPHA:331206
HP:0004429	Recurrent viral infections	3575	IL7R	ORPHA:169154
HP:0004429	Recurrent viral infections	253959	RALGAPA1	OMIM:618797
HP:0004429	Recurrent viral infections	7297	TYK2	OMIM:611521
HP:0004429	Recurrent viral infections	55072	RNF31	OMIM:620632
HP:0004429	Recurrent viral infections	3716	JAK1	OMIM:618999
HP:0004429	Recurrent viral infections	3718	JAK3	ORPHA:35078
HP:0004429	Recurrent viral infections	79840	NHEJ1	ORPHA:169079
HP:0004429	Recurrent viral infections	134218	DNAJC21	ORPHA:811
HP:0004429	Recurrent viral infections	79631	EFL1	ORPHA:811
HP:0004429	Recurrent viral infections	51119	SBDS	ORPHA:811
HP:0004429	Recurrent viral infections	925	CD8A	OMIM:608957
HP:0004429	Recurrent viral infections	57724	EPG5	OMIM:242840
HP:0004429	Recurrent viral infections	5994	RFXAP	ORPHA:572
HP:0004429	Recurrent viral infections	5993	RFX5	ORPHA:572
HP:0004429	Recurrent viral infections	8625	RFXANK	ORPHA:572
HP:0004429	Recurrent viral infections	84061	MAGT1	OMIM:300853
HP:0004429	Recurrent viral infections	51371	POMP	OMIM:618048
HP:0004429	Recurrent viral infections	50619	DEF6	OMIM:619573
HP:0004429	Recurrent viral infections	10379	IRF9	OMIM:618648
HP:0004429	Recurrent viral infections	100	ADA	OMIM:102700
HP:0004429	Recurrent viral infections	1503	CTPS1	OMIM:615897
HP:0004429	Recurrent viral infections	6772	STAT1	OMIM:613796
HP:0004429	Recurrent viral infections	6772	STAT1	OMIM:614892
HP:0004429	Recurrent viral infections	9020	MAP3K14	OMIM:620449
HP:0004429	Recurrent viral infections	686	BTD	ORPHA:79241
HP:0004429	Recurrent viral infections	10092	ARPC5	OMIM:620565
HP:0004429	Recurrent viral infections	3431	SP110	ORPHA:79124
HP:0004429	Recurrent viral infections	10312	TCIRG1	ORPHA:486
HP:0004429	Recurrent viral infections	6728	SRP19	ORPHA:486
HP:0004429	Recurrent viral infections	1991	ELANE	ORPHA:486
HP:0004429	Recurrent viral infections	2672	GFI1	ORPHA:486
HP:0004429	Recurrent viral infections	81570	CLPB	ORPHA:486
HP:0004429	Recurrent viral infections	81704	DOCK8	OMIM:243700
HP:0004429	Recurrent viral infections	81704	DOCK8	ORPHA:217390
HP:0004429	Recurrent viral infections	2624	GATA2	OMIM:614172
HP:0004429	Recurrent viral infections	2313	FLI1	OMIM:617443
HP:0004429	Recurrent viral infections	10892	MALT1	OMIM:615468
HP:0004429	Recurrent viral infections	10320	IKZF1	OMIM:616873
HP:0004429	Recurrent viral infections	6891	TAP2	OMIM:620813
HP:0004429	Recurrent viral infections	7535	ZAP70	ORPHA:911
HP:0004429	Recurrent viral infections	6778	STAT6	OMIM:620532
HP:0004429	Recurrent viral infections	3559	IL2RA	OMIM:606367
HP:0004429	Recurrent viral infections	165918	RNF168	ORPHA:420741
HP:0004429	Recurrent viral infections	6023	RMRP	OMIM:250250
HP:0004429	Recurrent viral infections	3561	IL2RG	ORPHA:276
HP:0004429	Recurrent viral infections	9138	ARHGEF1	OMIM:618459
HP:0004429	Recurrent viral infections	64135	IFIH1	OMIM:619773
HP:0004429	Recurrent viral infections	2214	FCGR3A	OMIM:615707
HP:0004428	Elfin facies	6804	STX1A	ORPHA:904
HP:0004428	Elfin facies	7461	CLIP2	ORPHA:904
HP:0004428	Elfin facies	84277	DNAJC30	ORPHA:904
HP:0004428	Elfin facies	8468	FKBP6	ORPHA:904
HP:0004428	Elfin facies	5982	RFC2	ORPHA:904
HP:0004428	Elfin facies	2969	GTF2I	ORPHA:904
HP:0004428	Elfin facies	3984	LIMK1	ORPHA:904
HP:0004428	Elfin facies	9569	GTF2IRD1	ORPHA:904
HP:0004428	Elfin facies	155382	VPS37D	ORPHA:904
HP:0004428	Elfin facies	155368	METTL27	ORPHA:904
HP:0004428	Elfin facies	114049	BUD23	ORPHA:904
HP:0004428	Elfin facies	7458	EIF4H	ORPHA:904
HP:0004428	Elfin facies	84163	GTF2IRD2	ORPHA:904
HP:0004428	Elfin facies	26608	TBL2	ORPHA:904
HP:0004428	Elfin facies	653361	NCF1	ORPHA:904
HP:0004428	Elfin facies	135886	TMEM270	ORPHA:904
HP:0004428	Elfin facies	9031	BAZ1B	ORPHA:904
HP:0004428	Elfin facies	2006	ELN	ORPHA:904
HP:0004428	Elfin facies	3708	ITPR1	OMIM:117360
HP:0004428	Elfin facies	341208	HEPHL1	OMIM:261990
HP:0004428	Elfin facies	2193	FARSA	OMIM:619013
HP:0004428	Elfin facies	3643	INSR	OMIM:246200
HP:0000293	Full cheeks	2137	EXTL3	ORPHA:508533
HP:0000293	Full cheeks	2137	EXTL3	OMIM:617425
HP:0000293	Full cheeks	9488	PIGB	OMIM:618580
HP:0000293	Full cheeks	3376	IARS1	OMIM:617093
HP:0000293	Full cheeks	3376	IARS1	ORPHA:541423
HP:0000293	Full cheeks	6309	SC5D	ORPHA:46059
HP:0000293	Full cheeks	91754	NEK9	OMIM:614262
HP:0000293	Full cheeks	23135	KDM6B	OMIM:618505
HP:0000293	Full cheeks	6885	MAP3K7	OMIM:617137
HP:0000293	Full cheeks	6885	MAP3K7	OMIM:157800
HP:0000293	Full cheeks	6885	MAP3K7	ORPHA:1826
HP:0000293	Full cheeks	57539	WDR35	OMIM:613610
HP:0000293	Full cheeks	3008	H1-4	OMIM:617537
HP:0000293	Full cheeks	85358	SHANK3	OMIM:606232
HP:0000293	Full cheeks	2778	GNAS	ORPHA:94089
HP:0000293	Full cheeks	2778	GNAS	OMIM:612463
HP:0000293	Full cheeks	2778	GNAS	OMIM:612462
HP:0000293	Full cheeks	2778	GNAS	ORPHA:79443
HP:0000293	Full cheeks	2778	GNAS	ORPHA:79444
HP:0000293	Full cheeks	2778	GNAS	OMIM:103580
HP:0000293	Full cheeks	8675	STX16	ORPHA:94089
HP:0000293	Full cheeks	7473	WNT3	ORPHA:3301
HP:0000293	Full cheeks	340419	RSPO2	ORPHA:3301
HP:0000293	Full cheeks	9496	TBX4	ORPHA:3301
HP:0000293	Full cheeks	27125	AFF4	ORPHA:444077
HP:0000293	Full cheeks	80232	WDR26	ORPHA:513456
HP:0000293	Full cheeks	80232	WDR26	OMIM:617616
HP:0000293	Full cheeks	650	BMP2	ORPHA:261295
HP:0000293	Full cheeks	9578	CDC42BPB	OMIM:619841
HP:0000293	Full cheeks	29998	BICRA	OMIM:619325
HP:0000293	Full cheeks	6651	SON	OMIM:617140
HP:0000293	Full cheeks	6651	SON	ORPHA:500150
HP:0000293	Full cheeks	51506	UFC1	OMIM:618076
HP:0000293	Full cheeks	8882	ZPR1	OMIM:619321
HP:0000293	Full cheeks	6492	SIM1	ORPHA:171829
HP:0000293	Full cheeks	63916	ELMO2	ORPHA:3019
HP:0000293	Full cheeks	1841	DTYMK	OMIM:619847
HP:0000293	Full cheeks	4010	LMX1B	ORPHA:495818
HP:0000293	Full cheeks	6812	STXBP1	ORPHA:495818
HP:0000293	Full cheeks	1363	CPE	OMIM:619326
HP:0000293	Full cheeks	55904	KMT2E	OMIM:618512
HP:0000293	Full cheeks	4000	LMNA	OMIM:248370
HP:0000293	Full cheeks	4952	OCRL	ORPHA:534
HP:0000293	Full cheeks	57231	SNX14	ORPHA:397709
HP:0000293	Full cheeks	2542	SLC37A4	ORPHA:79259
HP:0000293	Full cheeks	65082	VPS33A	ORPHA:505248
HP:0000293	Full cheeks	10735	STAG2	OMIM:301022
HP:0000293	Full cheeks	10588	MTHFS	OMIM:618367
HP:0000293	Full cheeks	1020	CDK5	OMIM:616342
HP:0000293	Full cheeks	9739	SETD1A	OMIM:619056
HP:0000293	Full cheeks	3756	KCNH1	OMIM:135500
HP:0000293	Full cheeks	3756	KCNH1	ORPHA:420561
HP:0000293	Full cheeks	80204	FBXO11	OMIM:618089
HP:0000293	Full cheeks	4853	NOTCH2	OMIM:102500
HP:0000293	Full cheeks	4853	NOTCH2	ORPHA:955
HP:0000293	Full cheeks	3423	IDS	ORPHA:217085
HP:0000293	Full cheeks	3423	IDS	ORPHA:217093
HP:0000293	Full cheeks	9326	ZNHIT3	ORPHA:2836
HP:0000293	Full cheeks	9326	ZNHIT3	OMIM:260565
HP:0000293	Full cheeks	5604	MAP2K1	ORPHA:1340
HP:0000293	Full cheeks	5605	MAP2K2	ORPHA:1340
HP:0000293	Full cheeks	3845	KRAS	ORPHA:1340
HP:0000293	Full cheeks	673	BRAF	ORPHA:1340
HP:0000293	Full cheeks	2248	FGF3	ORPHA:2791
HP:0000293	Full cheeks	2138	EYA1	ORPHA:2792
HP:0000293	Full cheeks	5075	PAX1	ORPHA:2792
HP:0000293	Full cheeks	83550	GPR101	ORPHA:963
HP:0000293	Full cheeks	9049	AIP	ORPHA:963
HP:0000293	Full cheeks	55764	IFT122	OMIM:218330
HP:0000293	Full cheeks	2626	GATA4	ORPHA:251071
HP:0000293	Full cheeks	22827	PUF60	ORPHA:508488
HP:0000293	Full cheeks	22827	PUF60	OMIM:615583
HP:0000293	Full cheeks	538	ATP7A	ORPHA:565
HP:0000293	Full cheeks	3265	HRAS	ORPHA:3071
HP:0000293	Full cheeks	3265	HRAS	OMIM:218040
HP:0000293	Full cheeks	3265	HRAS	OMIM:137550
HP:0000293	Full cheeks	84314	TMEM107	ORPHA:564
HP:0000293	Full cheeks	26123	TCTN3	ORPHA:564
HP:0000293	Full cheeks	79867	TCTN2	ORPHA:564
HP:0000293	Full cheeks	80776	B9D2	ORPHA:564
HP:0000293	Full cheeks	79600	TCTN1	ORPHA:564
HP:0000293	Full cheeks	57096	RPGRIP1	ORPHA:564
HP:0000293	Full cheeks	79848	CSPP1	ORPHA:564
HP:0000293	Full cheeks	80184	CEP290	ORPHA:564
HP:0000293	Full cheeks	51259	TMEM216	ORPHA:564
HP:0000293	Full cheeks	57545	CC2D2A	ORPHA:564
HP:0000293	Full cheeks	79583	TMEM231	ORPHA:564
HP:0000293	Full cheeks	91147	TMEM67	ORPHA:564
HP:0000293	Full cheeks	79770	TXNDC15	ORPHA:564
HP:0000293	Full cheeks	27077	B9D1	ORPHA:564
HP:0000293	Full cheeks	23322	RPGRIP1L	ORPHA:564
HP:0000293	Full cheeks	54903	MKS1	ORPHA:564
HP:0000293	Full cheeks	65062	TMEM237	ORPHA:564
HP:0000293	Full cheeks	171023	ASXL1	ORPHA:97297
HP:0000293	Full cheeks	3977	LIFR	OMIM:601559
HP:0000293	Full cheeks	5813	PURA	ORPHA:438216
HP:0000293	Full cheeks	5332	PLCB4	OMIM:620458
HP:0000293	Full cheeks	5332	PLCB4	ORPHA:137888
HP:0000293	Full cheeks	4338	MOCS2	OMIM:252160
HP:0000293	Full cheeks	2783	GNB2	OMIM:619503
HP:0000293	Full cheeks	79633	FAT4	OMIM:615546
HP:0000293	Full cheeks	5723	PSPH	ORPHA:79350
HP:0000293	Full cheeks	1906	EDN1	ORPHA:137888
HP:0000293	Full cheeks	1906	EDN1	OMIM:615706
HP:0000293	Full cheeks	2773	GNAI3	ORPHA:137888
HP:0000293	Full cheeks	9734	HDAC9	OMIM:620457
HP:0000293	Full cheeks	3425	IDUA	OMIM:607014
HP:0000293	Full cheeks	3425	IDUA	OMIM:607016
HP:0000293	Full cheeks	3425	IDUA	ORPHA:93473
HP:0000293	Full cheeks	9244	CRLF1	OMIM:272430
HP:0000293	Full cheeks	9244	CRLF1	ORPHA:1545
HP:0000293	Full cheeks	26834	RNU4-2	OMIM:620851
HP:0000293	Full cheeks	55975	KLHL7	OMIM:617055
HP:0000293	Full cheeks	57498	KIDINS220	OMIM:617296
HP:0000293	Full cheeks	1182	CLCN3	OMIM:619512
HP:0000293	Full cheeks	2200	FBN1	OMIM:614185
HP:0000293	Full cheeks	6711	SPTBN1	OMIM:619475
HP:0000293	Full cheeks	4337	MOCS1	OMIM:252150
HP:0000293	Full cheeks	5290	PIK3CA	ORPHA:60040
HP:0000293	Full cheeks	51520	LARS1	OMIM:615438
HP:0000293	Full cheeks	9091	PIGQ	OMIM:618548
HP:0000293	Full cheeks	1836	SLC26A2	ORPHA:628
HP:0000293	Full cheeks	6925	TCF4	ORPHA:2896
HP:0000293	Full cheeks	6925	TCF4	OMIM:610954
HP:0000293	Full cheeks	388015	RTL1	ORPHA:96184
HP:0000293	Full cheeks	8788	DLK1	ORPHA:96184
HP:0000293	Full cheeks	55384	MEG3	ORPHA:96184
HP:0000293	Full cheeks	55027	HEATR3	OMIM:620072
HP:0000293	Full cheeks	79718	TBL1XR1	OMIM:602342
HP:0000293	Full cheeks	6452	SH3BP2	ORPHA:184
HP:0000293	Full cheeks	4893	NRAS	OMIM:137550
HP:0000293	Full cheeks	23556	PIGN	ORPHA:280633
HP:0000293	Full cheeks	285590	SH3PXD2B	OMIM:249420
HP:0000293	Full cheeks	51124	IER3IP1	OMIM:614231
HP:0000293	Full cheeks	23067	SETD1B	OMIM:619000
HP:0000293	Full cheeks	51098	IFT52	OMIM:617102
HP:0000293	Full cheeks	1654	DDX3X	ORPHA:3338
HP:0000293	Full cheeks	3832	KIF11	ORPHA:2526
HP:0000293	Full cheeks	55704	CCDC88A	OMIM:617507
HP:0000293	Full cheeks	2316	FLNA	ORPHA:2484
HP:0000293	Full cheeks	2316	FLNA	ORPHA:1826
HP:0000293	Full cheeks	6901	TAFAZZIN	OMIM:302060
HP:0000293	Full cheeks	84919	PPP1R15B	OMIM:616817
HP:0000293	Full cheeks	84919	PPP1R15B	ORPHA:391408
HP:0000293	Full cheeks	93587	TRMT10A	ORPHA:391408
HP:0000293	Full cheeks	2006	ELN	OMIM:194050
HP:0000293	Full cheeks	51085	MLXIPL	OMIM:194050
HP:0000293	Full cheeks	51322	WAC	ORPHA:284169
HP:0000293	Full cheeks	51322	WAC	OMIM:616708
HP:0000293	Full cheeks	7030	TFE3	OMIM:301066
HP:0000293	Full cheeks	9895	TECPR2	ORPHA:320385
HP:0000293	Full cheeks	23162	MAPK8IP3	OMIM:618443
HP:0000293	Full cheeks	7355	SLC35A2	OMIM:300896
HP:0000293	Full cheeks	259232	NALCN	OMIM:616266
HP:0000293	Full cheeks	23483	TGDS	OMIM:616145
HP:0000293	Full cheeks	23483	TGDS	ORPHA:1388
HP:0000293	Full cheeks	8565	YARS1	OMIM:619418
HP:0000293	Full cheeks	5116	PCNT	ORPHA:2637
HP:0000293	Full cheeks	1968	EIF2S3	ORPHA:85282
HP:0000293	Full cheeks	9757	KMT2B	OMIM:619934
HP:0000293	Full cheeks	3339	HSPG2	OMIM:255800
HP:0000293	Full cheeks	3339	HSPG2	ORPHA:800
HP:0000293	Full cheeks	10295	BCKDK	OMIM:614923
HP:0000293	Full cheeks	8813	DPM1	ORPHA:79322
HP:0000293	Full cheeks	79158	GNPTAB	ORPHA:423461
HP:0000293	Full cheeks	71	ACTG1	ORPHA:2995
HP:0000293	Full cheeks	60	ACTB	ORPHA:2995
HP:0000293	Full cheeks	23529	CLCF1	ORPHA:1545
HP:0000293	Full cheeks	178	AGL	ORPHA:366
HP:0000293	Full cheeks	23040	MYT1L	ORPHA:647799
HP:0000293	Full cheeks	1387	CREBBP	OMIM:618332
HP:0000293	Full cheeks	2033	EP300	OMIM:618333
HP:0000293	Full cheeks	1917	EEF1A2	OMIM:616393
HP:0000293	Full cheeks	9742	IFT140	OMIM:266920
HP:0000293	Full cheeks	1806	DPYD	ORPHA:293948
HP:0000293	Full cheeks	26173	INTS1	OMIM:618571
HP:0000293	Full cheeks	57728	WDR19	OMIM:614378
HP:0000293	Full cheeks	57728	WDR19	OMIM:614376
HP:0000293	Full cheeks	55315	SLC29A3	ORPHA:168569
HP:0000293	Full cheeks	1642	DDB1	OMIM:619426
HP:0000293	Full cheeks	6664	SOX11	OMIM:615866
HP:0000293	Full cheeks	27445	PCLO	OMIM:608027
HP:0000293	Full cheeks	6905	TBCE	ORPHA:93324
HP:0000293	Full cheeks	90952	ESAM	OMIM:620371
HP:0000293	Full cheeks	4054	LTBP3	OMIM:617809
HP:0001241	Capitate-hamate fusion	5566	PRKACA	ORPHA:289
HP:0001241	Capitate-hamate fusion	5567	PRKACB	ORPHA:289
HP:0001241	Capitate-hamate fusion	2735	GLI1	ORPHA:289
HP:0001241	Capitate-hamate fusion	2121	EVC	ORPHA:289
HP:0001241	Capitate-hamate fusion	2121	EVC	OMIM:225500
HP:0001241	Capitate-hamate fusion	51626	DYNC2LI1	ORPHA:289
HP:0001241	Capitate-hamate fusion	132884	EVC2	ORPHA:289
HP:0001241	Capitate-hamate fusion	132884	EVC2	OMIM:225500
HP:0001241	Capitate-hamate fusion	2316	FLNA	OMIM:311300
HP:0001241	Capitate-hamate fusion	64093	SMOC1	OMIM:206920
HP:0001241	Capitate-hamate fusion	538	ATP7A	OMIM:304150
HP:0001241	Capitate-hamate fusion	2317	FLNB	OMIM:272460
HP:0001241	Capitate-hamate fusion	54928	BPNT2	OMIM:614078
HP:0001241	Capitate-hamate fusion	2261	FGFR3	OMIM:602849
HP:0001245	Small thenar eminence	6910	TBX5	OMIM:142900
HP:0001245	Small thenar eminence	11117	EMILIN1	OMIM:620080
HP:0001245	Small thenar eminence	5889	RAD51C	OMIM:613390
HP:0001245	Small thenar eminence	9775	EIF4A3	OMIM:268305
HP:0001245	Small thenar eminence	57167	SALL4	OMIM:147750
HP:0001245	Small thenar eminence	57167	SALL4	OMIM:607323
HP:0001245	Small thenar eminence	23291	FBXW11	OMIM:618914
HP:0001245	Small thenar eminence	2263	FGFR2	OMIM:149730
HP:0001245	Small thenar eminence	3209	HOXA13	OMIM:140000
HP:0001245	Small thenar eminence	121512	FGD4	OMIM:609311
HP:0001245	Small thenar eminence	6223	RPS19	OMIM:105650
HP:0009768	Broad phalanges of the hand	64135	IFIH1	OMIM:182250
HP:0009768	Broad phalanges of the hand	7700	ZNF141	OMIM:615226
HP:0009768	Broad phalanges of the hand	2778	GNAS	ORPHA:79443
HP:0009768	Broad phalanges of the hand	2778	GNAS	ORPHA:79444
HP:0009768	Broad phalanges of the hand	3239	HOXD13	OMIM:113200
HP:0009768	Broad phalanges of the hand	2137	EXTL3	ORPHA:508533
HP:0009768	Broad phalanges of the hand	2200	FBN1	OMIM:608328
HP:0009768	Broad phalanges of the hand	2316	FLNA	OMIM:305620
HP:0009768	Broad phalanges of the hand	81794	ADAMTS10	OMIM:277600
HP:0009768	Broad phalanges of the hand	9949	AMMECR1	OMIM:300990
HP:0009768	Broad phalanges of the hand	9653	HS2ST1	OMIM:619194
HP:0009768	Broad phalanges of the hand	2239	GPC4	OMIM:301026
HP:0009768	Broad phalanges of the hand	2239	GPC4	ORPHA:2662
HP:0009768	Broad phalanges of the hand	3835	KIF22	OMIM:603546
HP:0009768	Broad phalanges of the hand	80204	FBXO11	OMIM:618089
HP:0009768	Broad phalanges of the hand	2033	EP300	OMIM:180849
HP:0009768	Broad phalanges of the hand	2033	EP300	ORPHA:353284
HP:0009768	Broad phalanges of the hand	1387	CREBBP	OMIM:180849
HP:0009768	Broad phalanges of the hand	1387	CREBBP	ORPHA:353277
HP:0009768	Broad phalanges of the hand	1387	CREBBP	ORPHA:353281
HP:0009768	Broad phalanges of the hand	100151683	RNU4ATAC	ORPHA:2636
HP:0009768	Broad phalanges of the hand	126792	B3GALT6	OMIM:609465
HP:0009768	Broad phalanges of the hand	126792	B3GALT6	OMIM:271640
HP:0009768	Broad phalanges of the hand	2317	FLNB	ORPHA:503
HP:0009768	Broad phalanges of the hand	55209	SETD5	ORPHA:404440
HP:0009768	Broad phalanges of the hand	55209	SETD5	OMIM:615761
HP:0009768	Broad phalanges of the hand	57459	GATAD2B	ORPHA:363686
HP:0009768	Broad phalanges of the hand	6595	SMARCA2	OMIM:601358
HP:0009768	Broad phalanges of the hand	6595	SMARCA2	ORPHA:3051
HP:0009768	Broad phalanges of the hand	633	BGN	OMIM:300989
HP:0009768	Broad phalanges of the hand	23404	EXOSC2	OMIM:617763
HP:0009768	Broad phalanges of the hand	57728	WDR19	OMIM:614378
HP:0009768	Broad phalanges of the hand	79971	WLS	OMIM:619648
HP:0009768	Broad phalanges of the hand	388015	RTL1	ORPHA:96334
HP:0009768	Broad phalanges of the hand	8788	DLK1	ORPHA:96334
HP:0009768	Broad phalanges of the hand	55384	MEG3	ORPHA:96334
HP:0009768	Broad phalanges of the hand	25871	NEPRO	OMIM:618853
HP:0009768	Broad phalanges of the hand	1300	COL10A1	OMIM:156500
HP:0009768	Broad phalanges of the hand	5293	PIK3CD	ORPHA:221139
HP:0009768	Broad phalanges of the hand	90417	KNSTRN	ORPHA:221139
HP:0009768	Broad phalanges of the hand	6792	CDKL5	ORPHA:505652
HP:0009768	Broad phalanges of the hand	9469	CHST3	OMIM:245600
HP:0009768	Broad phalanges of the hand	26229	B3GAT3	OMIM:245600
HP:0009768	Broad phalanges of the hand	55764	IFT122	OMIM:218330
HP:0009768	Broad phalanges of the hand	7291	TWIST1	ORPHA:794
HP:0009768	Broad phalanges of the hand	7291	TWIST1	OMIM:180750
HP:0009768	Broad phalanges of the hand	2263	FGFR2	ORPHA:794
HP:0009768	Broad phalanges of the hand	2263	FGFR2	ORPHA:87
HP:0009768	Broad phalanges of the hand	2263	FGFR2	ORPHA:93260
HP:0009768	Broad phalanges of the hand	2263	FGFR2	ORPHA:93258
HP:0009768	Broad phalanges of the hand	2263	FGFR2	ORPHA:93259
HP:0009768	Broad phalanges of the hand	2263	FGFR2	OMIM:101600
HP:0009768	Broad phalanges of the hand	2263	FGFR2	OMIM:101200
HP:0009768	Broad phalanges of the hand	2261	FGFR3	ORPHA:794
HP:0009768	Broad phalanges of the hand	2261	FGFR3	OMIM:602849
HP:0009768	Broad phalanges of the hand	1280	COL2A1	OMIM:271700
HP:0009768	Broad phalanges of the hand	2737	GLI3	ORPHA:672
HP:0009768	Broad phalanges of the hand	2737	GLI3	ORPHA:380
HP:0009768	Broad phalanges of the hand	2737	GLI3	OMIM:175700
HP:0009768	Broad phalanges of the hand	2737	GLI3	OMIM:174200
HP:0009768	Broad phalanges of the hand	22827	PUF60	ORPHA:508498
HP:0009768	Broad phalanges of the hand	23394	ADNP	ORPHA:404448
HP:0009768	Broad phalanges of the hand	6910	TBX5	ORPHA:392
HP:0009768	Broad phalanges of the hand	6477	SIAH1	OMIM:619314
HP:0009768	Broad phalanges of the hand	10059	DNM1L	OMIM:614388
HP:0009768	Broad phalanges of the hand	6885	MAP3K7	OMIM:617137
HP:0009768	Broad phalanges of the hand	6885	MAP3K7	ORPHA:1826
HP:0009768	Broad phalanges of the hand	23314	SATB2	ORPHA:251028
HP:0009768	Broad phalanges of the hand	23314	SATB2	ORPHA:251019
HP:0009768	Broad phalanges of the hand	23314	SATB2	ORPHA:576283
HP:0009768	Broad phalanges of the hand	64327	LMBR1	OMIM:190605
HP:0009768	Broad phalanges of the hand	9241	NOG	OMIM:184460
HP:0009768	Broad phalanges of the hand	9241	NOG	ORPHA:3237
HP:0009768	Broad phalanges of the hand	6299	SALL1	OMIM:107480
HP:0009768	Broad phalanges of the hand	6299	SALL1	ORPHA:857
HP:0009768	Broad phalanges of the hand	10847	SRCAP	OMIM:136140
HP:0009768	Broad phalanges of the hand	650	BMP2	ORPHA:261295
HP:0009768	Broad phalanges of the hand	3020	H3-3A	OMIM:619720
HP:0009768	Broad phalanges of the hand	29998	BICRA	OMIM:619325
HP:0009768	Broad phalanges of the hand	3021	H3-3B	OMIM:619721
HP:0009768	Broad phalanges of the hand	4920	ROR2	OMIM:113000
HP:0009768	Broad phalanges of the hand	4920	ROR2	ORPHA:1507
HP:0009768	Broad phalanges of the hand	4920	ROR2	OMIM:268310
HP:0009768	Broad phalanges of the hand	1855	DVL1	OMIM:616331
HP:0009768	Broad phalanges of the hand	1855	DVL1	OMIM:180700
HP:0009768	Broad phalanges of the hand	473	RERE	OMIM:616975
HP:0009768	Broad phalanges of the hand	8239	USP9X	OMIM:300919
HP:0009768	Broad phalanges of the hand	3248	HPGD	ORPHA:217059
HP:0009768	Broad phalanges of the hand	176	ACAN	OMIM:612813
HP:0009768	Broad phalanges of the hand	176	ACAN	ORPHA:171866
HP:0009768	Broad phalanges of the hand	51132	RLIM	OMIM:300978
HP:0009768	Broad phalanges of the hand	64359	NXN	OMIM:618529
HP:0009768	Broad phalanges of the hand	64359	NXN	ORPHA:1507
HP:0009768	Broad phalanges of the hand	92579	G6PC3	OMIM:612541
HP:0009768	Broad phalanges of the hand	64131	XYLT1	OMIM:615777
HP:0009768	Broad phalanges of the hand	64131	XYLT1	ORPHA:370930
HP:0009768	Broad phalanges of the hand	29920	PYCR2	ORPHA:481152
HP:0009768	Broad phalanges of the hand	2260	FGFR1	ORPHA:93258
HP:0009768	Broad phalanges of the hand	2260	FGFR1	OMIM:166250
HP:0009768	Broad phalanges of the hand	2260	FGFR1	OMIM:101600
HP:0009768	Broad phalanges of the hand	64093	SMOC1	ORPHA:1106
HP:0009768	Broad phalanges of the hand	2626	GATA4	ORPHA:251071
HP:0009768	Broad phalanges of the hand	8726	EED	OMIM:617561
HP:0009768	Broad phalanges of the hand	5718	PSMD12	ORPHA:529962
HP:0009768	Broad phalanges of the hand	2186	BPTF	ORPHA:529962
HP:0009768	Broad phalanges of the hand	4212	MEIS2	OMIM:600987
HP:0009768	Broad phalanges of the hand	1954	MEGF8	OMIM:614976
HP:0009768	Broad phalanges of the hand	1954	MEGF8	ORPHA:65759
HP:0009768	Broad phalanges of the hand	51715	RAB23	ORPHA:65759
HP:0009768	Broad phalanges of the hand	5728	PTEN	ORPHA:79076
HP:0009768	Broad phalanges of the hand	5728	PTEN	ORPHA:109
HP:0009768	Broad phalanges of the hand	657	BMPR1A	ORPHA:79076
HP:0009768	Broad phalanges of the hand	8200	GDF5	ORPHA:3237
HP:0009768	Broad phalanges of the hand	2254	FGF9	ORPHA:3237
HP:0009768	Broad phalanges of the hand	2254	FGF9	OMIM:612961
HP:0009768	Broad phalanges of the hand	3981	LIG4	ORPHA:235
HP:0009768	Broad phalanges of the hand	54888	NSUN2	ORPHA:235
HP:0009768	Broad phalanges of the hand	6608	SMO	OMIM:601707
HP:0009768	Broad phalanges of the hand	6608	SMO	ORPHA:1553
HP:0009768	Broad phalanges of the hand	23126	POGZ	OMIM:616364
HP:0009768	Broad phalanges of the hand	51633	OTUD6B	OMIM:617452
HP:0009768	Broad phalanges of the hand	51633	OTUD6B	ORPHA:505237
HP:0009768	Broad phalanges of the hand	5593	PRKG2	OMIM:619638
HP:0009768	Broad phalanges of the hand	79753	SNIP1	OMIM:614501
HP:0009768	Broad phalanges of the hand	9968	MED12	OMIM:309520
HP:0009768	Broad phalanges of the hand	9968	MED12	OMIM:305450
HP:0009768	Broad phalanges of the hand	80036	TRPM3	OMIM:620224
HP:0009768	Broad phalanges of the hand	285362	SUMF1	OMIM:272200
HP:0009768	Broad phalanges of the hand	285362	SUMF1	ORPHA:585
HP:0009768	Broad phalanges of the hand	79759	ZNF668	OMIM:620194
HP:0009768	Broad phalanges of the hand	10236	HNRNPR	OMIM:620073
HP:0009768	Broad phalanges of the hand	284252	KCTD1	OMIM:181270
HP:0009768	Broad phalanges of the hand	1857	DVL3	OMIM:616894
HP:0009768	Broad phalanges of the hand	8481	OFD1	OMIM:300209
HP:0009768	Broad phalanges of the hand	56098	PCDHGC4	OMIM:619880
HP:0009768	Broad phalanges of the hand	51339	DACT1	ORPHA:857
HP:0009768	Broad phalanges of the hand	3756	KCNH1	ORPHA:420561
HP:0009768	Broad phalanges of the hand	3756	KCNH1	OMIM:611816
HP:0009768	Broad phalanges of the hand	2719	GPC3	ORPHA:373
HP:0009768	Broad phalanges of the hand	2719	GPC3	OMIM:312870
HP:0009768	Broad phalanges of the hand	4123	MAN2C1	OMIM:619775
HP:0009768	Broad phalanges of the hand	4488	MSX2	ORPHA:60015
HP:0009768	Broad phalanges of the hand	60529	ALX4	ORPHA:60015
HP:0009768	Broad phalanges of the hand	79989	IFT56	OMIM:619534
HP:0009768	Broad phalanges of the hand	2146	EZH2	OMIM:277590
HP:0009768	Broad phalanges of the hand	2146	EZH2	ORPHA:3447
HP:0009768	Broad phalanges of the hand	9939	RBM8A	ORPHA:3320
HP:0009768	Broad phalanges of the hand	9939	RBM8A	OMIM:274000
HP:0009768	Broad phalanges of the hand	7474	WNT5A	OMIM:180700
HP:0009768	Broad phalanges of the hand	64324	NSD1	ORPHA:3447
HP:0009768	Broad phalanges of the hand	23512	SUZ12	ORPHA:3447
HP:0009768	Broad phalanges of the hand	5587	PRKD1	OMIM:617364
HP:0009768	Broad phalanges of the hand	2703	GJA8	OMIM:612474
HP:0009768	Broad phalanges of the hand	2702	GJA5	OMIM:612474
HP:0009768	Broad phalanges of the hand	3636	INPPL1	ORPHA:2746
HP:0009768	Broad phalanges of the hand	55690	PACS1	ORPHA:329224
HP:0009768	Broad phalanges of the hand	22907	DHX30	OMIM:617804
HP:0009768	Broad phalanges of the hand	865	CBFB	OMIM:620099
HP:0001248	Short tubular bones of the hand	2317	FLNB	ORPHA:56305
HP:0001248	Short tubular bones of the hand	1300	COL10A1	ORPHA:174
HP:0001248	Short tubular bones of the hand	1280	COL2A1	OMIM:200610
HP:0001248	Short tubular bones of the hand	59341	TRPV4	ORPHA:93314
HP:0004426	Abnormal cheek morphology	2137	EXTL3	ORPHA:508533
HP:0004426	Abnormal cheek morphology	2137	EXTL3	OMIM:617425
HP:0004426	Abnormal cheek morphology	9488	PIGB	OMIM:618580
HP:0004426	Abnormal cheek morphology	3376	IARS1	OMIM:617093
HP:0004426	Abnormal cheek morphology	3376	IARS1	ORPHA:541423
HP:0004426	Abnormal cheek morphology	6309	SC5D	ORPHA:46059
HP:0004426	Abnormal cheek morphology	91754	NEK9	OMIM:614262
HP:0004426	Abnormal cheek morphology	23135	KDM6B	OMIM:618505
HP:0004426	Abnormal cheek morphology	6885	MAP3K7	OMIM:617137
HP:0004426	Abnormal cheek morphology	6885	MAP3K7	OMIM:157800
HP:0004426	Abnormal cheek morphology	6885	MAP3K7	ORPHA:1826
HP:0004426	Abnormal cheek morphology	57539	WDR35	OMIM:613610
HP:0004426	Abnormal cheek morphology	3008	H1-4	OMIM:617537
HP:0004426	Abnormal cheek morphology	85358	SHANK3	OMIM:606232
HP:0004426	Abnormal cheek morphology	2778	GNAS	ORPHA:94089
HP:0004426	Abnormal cheek morphology	2778	GNAS	OMIM:612463
HP:0004426	Abnormal cheek morphology	2778	GNAS	OMIM:612462
HP:0004426	Abnormal cheek morphology	2778	GNAS	ORPHA:79443
HP:0004426	Abnormal cheek morphology	2778	GNAS	ORPHA:79444
HP:0004426	Abnormal cheek morphology	2778	GNAS	OMIM:103580
HP:0004426	Abnormal cheek morphology	8675	STX16	ORPHA:94089
HP:0004426	Abnormal cheek morphology	7473	WNT3	ORPHA:3301
HP:0004426	Abnormal cheek morphology	340419	RSPO2	ORPHA:3301
HP:0004426	Abnormal cheek morphology	9496	TBX4	ORPHA:3301
HP:0004426	Abnormal cheek morphology	27125	AFF4	ORPHA:444077
HP:0004426	Abnormal cheek morphology	80232	WDR26	ORPHA:513456
HP:0004426	Abnormal cheek morphology	80232	WDR26	OMIM:617616
HP:0004426	Abnormal cheek morphology	650	BMP2	ORPHA:261295
HP:0004426	Abnormal cheek morphology	9578	CDC42BPB	OMIM:619841
HP:0004426	Abnormal cheek morphology	29998	BICRA	OMIM:619325
HP:0004426	Abnormal cheek morphology	6651	SON	OMIM:617140
HP:0004426	Abnormal cheek morphology	6651	SON	ORPHA:500150
HP:0004426	Abnormal cheek morphology	51506	UFC1	OMIM:618076
HP:0004426	Abnormal cheek morphology	8882	ZPR1	OMIM:619321
HP:0004426	Abnormal cheek morphology	6492	SIM1	ORPHA:171829
HP:0004426	Abnormal cheek morphology	63916	ELMO2	ORPHA:3019
HP:0004426	Abnormal cheek morphology	1841	DTYMK	OMIM:619847
HP:0004426	Abnormal cheek morphology	4010	LMX1B	ORPHA:495818
HP:0004426	Abnormal cheek morphology	6812	STXBP1	ORPHA:495818
HP:0004426	Abnormal cheek morphology	1363	CPE	OMIM:619326
HP:0004426	Abnormal cheek morphology	55904	KMT2E	OMIM:618512
HP:0004426	Abnormal cheek morphology	4000	LMNA	OMIM:248370
HP:0004426	Abnormal cheek morphology	4952	OCRL	ORPHA:534
HP:0004426	Abnormal cheek morphology	57231	SNX14	ORPHA:397709
HP:0004426	Abnormal cheek morphology	2542	SLC37A4	ORPHA:79259
HP:0004426	Abnormal cheek morphology	65082	VPS33A	ORPHA:505248
HP:0004426	Abnormal cheek morphology	10735	STAG2	OMIM:301022
HP:0004426	Abnormal cheek morphology	10588	MTHFS	OMIM:618367
HP:0004426	Abnormal cheek morphology	1020	CDK5	OMIM:616342
HP:0004426	Abnormal cheek morphology	9739	SETD1A	OMIM:619056
HP:0004426	Abnormal cheek morphology	3756	KCNH1	OMIM:135500
HP:0004426	Abnormal cheek morphology	3756	KCNH1	ORPHA:420561
HP:0004426	Abnormal cheek morphology	80204	FBXO11	OMIM:618089
HP:0004426	Abnormal cheek morphology	4853	NOTCH2	OMIM:102500
HP:0004426	Abnormal cheek morphology	4853	NOTCH2	ORPHA:955
HP:0004426	Abnormal cheek morphology	3423	IDS	ORPHA:217085
HP:0004426	Abnormal cheek morphology	3423	IDS	ORPHA:217093
HP:0004426	Abnormal cheek morphology	9326	ZNHIT3	ORPHA:2836
HP:0004426	Abnormal cheek morphology	9326	ZNHIT3	OMIM:260565
HP:0004426	Abnormal cheek morphology	5604	MAP2K1	ORPHA:1340
HP:0004426	Abnormal cheek morphology	5605	MAP2K2	ORPHA:1340
HP:0004426	Abnormal cheek morphology	3845	KRAS	ORPHA:1340
HP:0004426	Abnormal cheek morphology	673	BRAF	ORPHA:1340
HP:0004426	Abnormal cheek morphology	2248	FGF3	ORPHA:2791
HP:0004426	Abnormal cheek morphology	2138	EYA1	ORPHA:2792
HP:0004426	Abnormal cheek morphology	5075	PAX1	ORPHA:2792
HP:0004426	Abnormal cheek morphology	83550	GPR101	ORPHA:963
HP:0004426	Abnormal cheek morphology	9049	AIP	ORPHA:963
HP:0004426	Abnormal cheek morphology	55764	IFT122	OMIM:218330
HP:0004426	Abnormal cheek morphology	2626	GATA4	ORPHA:251071
HP:0004426	Abnormal cheek morphology	22827	PUF60	ORPHA:508488
HP:0004426	Abnormal cheek morphology	22827	PUF60	OMIM:615583
HP:0004426	Abnormal cheek morphology	538	ATP7A	ORPHA:565
HP:0004426	Abnormal cheek morphology	3265	HRAS	ORPHA:3071
HP:0004426	Abnormal cheek morphology	3265	HRAS	OMIM:218040
HP:0004426	Abnormal cheek morphology	3265	HRAS	OMIM:137550
HP:0004426	Abnormal cheek morphology	84314	TMEM107	ORPHA:564
HP:0004426	Abnormal cheek morphology	26123	TCTN3	ORPHA:564
HP:0004426	Abnormal cheek morphology	79867	TCTN2	ORPHA:564
HP:0004426	Abnormal cheek morphology	80776	B9D2	ORPHA:564
HP:0004426	Abnormal cheek morphology	79600	TCTN1	ORPHA:564
HP:0004426	Abnormal cheek morphology	57096	RPGRIP1	ORPHA:564
HP:0004426	Abnormal cheek morphology	79848	CSPP1	ORPHA:564
HP:0004426	Abnormal cheek morphology	80184	CEP290	ORPHA:564
HP:0004426	Abnormal cheek morphology	51259	TMEM216	ORPHA:564
HP:0004426	Abnormal cheek morphology	57545	CC2D2A	ORPHA:564
HP:0004426	Abnormal cheek morphology	79583	TMEM231	ORPHA:564
HP:0004426	Abnormal cheek morphology	91147	TMEM67	ORPHA:564
HP:0004426	Abnormal cheek morphology	79770	TXNDC15	ORPHA:564
HP:0004426	Abnormal cheek morphology	27077	B9D1	ORPHA:564
HP:0004426	Abnormal cheek morphology	23322	RPGRIP1L	ORPHA:564
HP:0004426	Abnormal cheek morphology	54903	MKS1	ORPHA:564
HP:0004426	Abnormal cheek morphology	65062	TMEM237	ORPHA:564
HP:0004426	Abnormal cheek morphology	171023	ASXL1	ORPHA:97297
HP:0004426	Abnormal cheek morphology	3977	LIFR	OMIM:601559
HP:0004426	Abnormal cheek morphology	5813	PURA	ORPHA:438216
HP:0004426	Abnormal cheek morphology	5332	PLCB4	OMIM:620458
HP:0004426	Abnormal cheek morphology	5332	PLCB4	ORPHA:137888
HP:0004426	Abnormal cheek morphology	4338	MOCS2	OMIM:252160
HP:0004426	Abnormal cheek morphology	2783	GNB2	OMIM:619503
HP:0004426	Abnormal cheek morphology	79633	FAT4	OMIM:615546
HP:0004426	Abnormal cheek morphology	5723	PSPH	ORPHA:79350
HP:0004426	Abnormal cheek morphology	1906	EDN1	ORPHA:137888
HP:0004426	Abnormal cheek morphology	1906	EDN1	OMIM:615706
HP:0004426	Abnormal cheek morphology	2773	GNAI3	ORPHA:137888
HP:0004426	Abnormal cheek morphology	9734	HDAC9	OMIM:620457
HP:0004426	Abnormal cheek morphology	3425	IDUA	OMIM:607014
HP:0004426	Abnormal cheek morphology	3425	IDUA	OMIM:607016
HP:0004426	Abnormal cheek morphology	3425	IDUA	ORPHA:93473
HP:0004426	Abnormal cheek morphology	9244	CRLF1	OMIM:272430
HP:0004426	Abnormal cheek morphology	9244	CRLF1	ORPHA:1545
HP:0004426	Abnormal cheek morphology	26834	RNU4-2	OMIM:620851
HP:0004426	Abnormal cheek morphology	55975	KLHL7	OMIM:617055
HP:0004426	Abnormal cheek morphology	57498	KIDINS220	OMIM:617296
HP:0004426	Abnormal cheek morphology	1182	CLCN3	OMIM:619512
HP:0004426	Abnormal cheek morphology	2200	FBN1	OMIM:614185
HP:0004426	Abnormal cheek morphology	6711	SPTBN1	OMIM:619475
HP:0004426	Abnormal cheek morphology	4337	MOCS1	OMIM:252150
HP:0004426	Abnormal cheek morphology	5290	PIK3CA	ORPHA:60040
HP:0004426	Abnormal cheek morphology	51520	LARS1	OMIM:615438
HP:0004426	Abnormal cheek morphology	9091	PIGQ	OMIM:618548
HP:0004426	Abnormal cheek morphology	1836	SLC26A2	ORPHA:628
HP:0004426	Abnormal cheek morphology	6925	TCF4	ORPHA:2896
HP:0004426	Abnormal cheek morphology	6925	TCF4	OMIM:610954
HP:0004426	Abnormal cheek morphology	388015	RTL1	ORPHA:96184
HP:0004426	Abnormal cheek morphology	8788	DLK1	ORPHA:96184
HP:0004426	Abnormal cheek morphology	55384	MEG3	ORPHA:96184
HP:0004426	Abnormal cheek morphology	55027	HEATR3	OMIM:620072
HP:0004426	Abnormal cheek morphology	79718	TBL1XR1	OMIM:602342
HP:0004426	Abnormal cheek morphology	6452	SH3BP2	ORPHA:184
HP:0004426	Abnormal cheek morphology	4893	NRAS	OMIM:137550
HP:0004426	Abnormal cheek morphology	23556	PIGN	ORPHA:280633
HP:0004426	Abnormal cheek morphology	285590	SH3PXD2B	OMIM:249420
HP:0004426	Abnormal cheek morphology	51124	IER3IP1	OMIM:614231
HP:0004426	Abnormal cheek morphology	23067	SETD1B	OMIM:619000
HP:0004426	Abnormal cheek morphology	51098	IFT52	OMIM:617102
HP:0004426	Abnormal cheek morphology	1654	DDX3X	ORPHA:3338
HP:0004426	Abnormal cheek morphology	3832	KIF11	ORPHA:2526
HP:0004426	Abnormal cheek morphology	55704	CCDC88A	OMIM:617507
HP:0004426	Abnormal cheek morphology	2316	FLNA	ORPHA:2484
HP:0004426	Abnormal cheek morphology	2316	FLNA	ORPHA:1826
HP:0004426	Abnormal cheek morphology	6901	TAFAZZIN	OMIM:302060
HP:0004426	Abnormal cheek morphology	84919	PPP1R15B	OMIM:616817
HP:0004426	Abnormal cheek morphology	84919	PPP1R15B	ORPHA:391408
HP:0004426	Abnormal cheek morphology	93587	TRMT10A	ORPHA:391408
HP:0004426	Abnormal cheek morphology	2006	ELN	OMIM:194050
HP:0004426	Abnormal cheek morphology	51085	MLXIPL	OMIM:194050
HP:0004426	Abnormal cheek morphology	51322	WAC	ORPHA:284169
HP:0004426	Abnormal cheek morphology	51322	WAC	OMIM:616708
HP:0004426	Abnormal cheek morphology	7030	TFE3	OMIM:301066
HP:0004426	Abnormal cheek morphology	9895	TECPR2	ORPHA:320385
HP:0004426	Abnormal cheek morphology	23162	MAPK8IP3	OMIM:618443
HP:0004426	Abnormal cheek morphology	7355	SLC35A2	OMIM:300896
HP:0004426	Abnormal cheek morphology	259232	NALCN	OMIM:616266
HP:0004426	Abnormal cheek morphology	23483	TGDS	OMIM:616145
HP:0004426	Abnormal cheek morphology	23483	TGDS	ORPHA:1388
HP:0004426	Abnormal cheek morphology	8565	YARS1	OMIM:619418
HP:0004426	Abnormal cheek morphology	5116	PCNT	ORPHA:2637
HP:0004426	Abnormal cheek morphology	1968	EIF2S3	ORPHA:85282
HP:0004426	Abnormal cheek morphology	9757	KMT2B	OMIM:619934
HP:0004426	Abnormal cheek morphology	3339	HSPG2	OMIM:255800
HP:0004426	Abnormal cheek morphology	3339	HSPG2	ORPHA:800
HP:0004426	Abnormal cheek morphology	10295	BCKDK	OMIM:614923
HP:0004426	Abnormal cheek morphology	8813	DPM1	ORPHA:79322
HP:0004426	Abnormal cheek morphology	79158	GNPTAB	ORPHA:423461
HP:0004426	Abnormal cheek morphology	71	ACTG1	ORPHA:2995
HP:0004426	Abnormal cheek morphology	60	ACTB	ORPHA:2995
HP:0004426	Abnormal cheek morphology	23529	CLCF1	ORPHA:1545
HP:0004426	Abnormal cheek morphology	178	AGL	ORPHA:366
HP:0004426	Abnormal cheek morphology	23040	MYT1L	ORPHA:647799
HP:0004426	Abnormal cheek morphology	1387	CREBBP	OMIM:618332
HP:0004426	Abnormal cheek morphology	2033	EP300	OMIM:618333
HP:0004426	Abnormal cheek morphology	1917	EEF1A2	OMIM:616393
HP:0004426	Abnormal cheek morphology	9742	IFT140	OMIM:266920
HP:0004426	Abnormal cheek morphology	1806	DPYD	ORPHA:293948
HP:0004426	Abnormal cheek morphology	26173	INTS1	OMIM:618571
HP:0004426	Abnormal cheek morphology	57728	WDR19	OMIM:614378
HP:0004426	Abnormal cheek morphology	57728	WDR19	OMIM:614376
HP:0004426	Abnormal cheek morphology	55315	SLC29A3	ORPHA:168569
HP:0004426	Abnormal cheek morphology	1642	DDB1	OMIM:619426
HP:0004426	Abnormal cheek morphology	6664	SOX11	OMIM:615866
HP:0004426	Abnormal cheek morphology	27445	PCLO	OMIM:608027
HP:0004426	Abnormal cheek morphology	6905	TBCE	ORPHA:93324
HP:0004426	Abnormal cheek morphology	90952	ESAM	OMIM:620371
HP:0004426	Abnormal cheek morphology	4054	LTBP3	OMIM:617809
HP:0004426	Abnormal cheek morphology	2245	FGD1	OMIM:305400
HP:0004426	Abnormal cheek morphology	10262	SF3B4	OMIM:154400
HP:0004426	Abnormal cheek morphology	8367	H4C5	OMIM:619950
HP:0004426	Abnormal cheek morphology	8294	H4C9	OMIM:619951
HP:0004426	Abnormal cheek morphology	6495	SIX1	OMIM:113650
HP:0004426	Abnormal cheek morphology	6495	SIX1	ORPHA:107
HP:0004426	Abnormal cheek morphology	6495	SIX1	ORPHA:52429
HP:0004426	Abnormal cheek morphology	6495	SIX1	OMIM:608389
HP:0004426	Abnormal cheek morphology	2132	EXT2	OMIM:616682
HP:0004426	Abnormal cheek morphology	2335	FN1	ORPHA:93315
HP:0004426	Abnormal cheek morphology	1280	COL2A1	ORPHA:93315
HP:0004426	Abnormal cheek morphology	2972	BRF1	OMIM:616202
HP:0004426	Abnormal cheek morphology	145173	B3GLCT	ORPHA:709
HP:0004426	Abnormal cheek morphology	10992	SF3B2	OMIM:164210
HP:0004426	Abnormal cheek morphology	6299	SALL1	OMIM:107480
HP:0004426	Abnormal cheek morphology	6299	SALL1	ORPHA:857
HP:0004426	Abnormal cheek morphology	374654	KIF7	OMIM:200990
HP:0004426	Abnormal cheek morphology	89910	UBE3B	OMIM:244450
HP:0004426	Abnormal cheek morphology	89910	UBE3B	ORPHA:2707
HP:0004426	Abnormal cheek morphology	8085	KMT2D	ORPHA:2322
HP:0004426	Abnormal cheek morphology	7403	KDM6A	ORPHA:2322
HP:0004426	Abnormal cheek morphology	4953	ODC1	ORPHA:544488
HP:0004426	Abnormal cheek morphology	55636	CHD7	ORPHA:138
HP:0004426	Abnormal cheek morphology	9723	SEMA3E	ORPHA:138
HP:0004426	Abnormal cheek morphology	57492	ARID1B	OMIM:135900
HP:0004426	Abnormal cheek morphology	54496	PRMT7	OMIM:617157
HP:0004426	Abnormal cheek morphology	54496	PRMT7	ORPHA:464288
HP:0004426	Abnormal cheek morphology	10265	IRX5	OMIM:611174
HP:0004426	Abnormal cheek morphology	2260	FGFR1	OMIM:190440
HP:0004426	Abnormal cheek morphology	23389	MED13L	ORPHA:369891
HP:0004426	Abnormal cheek morphology	8260	NAA10	ORPHA:568
HP:0004426	Abnormal cheek morphology	54880	BCOR	ORPHA:568
HP:0004426	Abnormal cheek morphology	10943	MSL3	OMIM:301032
HP:0004426	Abnormal cheek morphology	1501	CTNND2	ORPHA:281
HP:0004426	Abnormal cheek morphology	9037	SEMA5A	ORPHA:281
HP:0004426	Abnormal cheek morphology	4041	LRP5	ORPHA:2788
HP:0004426	Abnormal cheek morphology	51729	WBP11	OMIM:619227
HP:0004426	Abnormal cheek morphology	147912	SIX5	OMIM:610896
HP:0004426	Abnormal cheek morphology	147912	SIX5	ORPHA:107
HP:0004426	Abnormal cheek morphology	6638	SNRPN	ORPHA:177907
HP:0004426	Abnormal cheek morphology	7468	NSD2	OMIM:194190
HP:0004426	Abnormal cheek morphology	10815	CPLX1	OMIM:194190
HP:0004426	Abnormal cheek morphology	1487	CTBP1	OMIM:194190
HP:0004426	Abnormal cheek morphology	53834	FGFRL1	OMIM:194190
HP:0004426	Abnormal cheek morphology	3954	LETM1	OMIM:194190
HP:0004426	Abnormal cheek morphology	9343	EFTUD2	OMIM:610536
HP:0004426	Abnormal cheek morphology	9343	EFTUD2	ORPHA:79113
HP:0004426	Abnormal cheek morphology	57167	SALL4	ORPHA:233
HP:0004426	Abnormal cheek morphology	9935	MAFB	ORPHA:233
HP:0004426	Abnormal cheek morphology	1123	CHN1	ORPHA:233
HP:0004426	Abnormal cheek morphology	3192	HNRNPU	ORPHA:238769
HP:0004426	Abnormal cheek morphology	157680	VPS13B	ORPHA:193
HP:0004426	Abnormal cheek morphology	8092	ALX1	ORPHA:306542
HP:0004426	Abnormal cheek morphology	94005	PIGS	OMIM:618143
HP:0004426	Abnormal cheek morphology	57282	SLC4A10	OMIM:620746
HP:0004426	Abnormal cheek morphology	1909	EDNRA	OMIM:616367
HP:0004426	Abnormal cheek morphology	8364	H4C3	OMIM:619758
HP:0004426	Abnormal cheek morphology	10907	TXNL4A	OMIM:608572
HP:0004426	Abnormal cheek morphology	2736	GLI2	OMIM:610829
HP:0004426	Abnormal cheek morphology	79759	ZNF668	OMIM:620194
HP:0004426	Abnormal cheek morphology	84172	POLR1B	ORPHA:861
HP:0004426	Abnormal cheek morphology	9533	POLR1C	ORPHA:861
HP:0004426	Abnormal cheek morphology	51082	POLR1D	ORPHA:861
HP:0004426	Abnormal cheek morphology	6949	TCOF1	ORPHA:861
HP:0004426	Abnormal cheek morphology	6949	TCOF1	OMIM:154500
HP:0004426	Abnormal cheek morphology	55617	TASP1	OMIM:618950
HP:0004426	Abnormal cheek morphology	29123	ANKRD11	ORPHA:261250
HP:0004426	Abnormal cheek morphology	79971	WLS	OMIM:619648
HP:0004426	Abnormal cheek morphology	51339	DACT1	ORPHA:857
HP:0004426	Abnormal cheek morphology	54916	TMEM260	OMIM:617478
HP:0004426	Abnormal cheek morphology	374969	SVBP	OMIM:618569
HP:0004426	Abnormal cheek morphology	2317	FLNB	OMIM:272460
HP:0004426	Abnormal cheek morphology	9897	WASHC5	ORPHA:7
HP:0004426	Abnormal cheek morphology	28952	CCDC22	ORPHA:7
HP:0004426	Abnormal cheek morphology	57020	VPS35L	ORPHA:7
HP:0004426	Abnormal cheek morphology	56896	DPYSL5	ORPHA:7
HP:0004426	Abnormal cheek morphology	257	ALX3	OMIM:136760
HP:0004426	Abnormal cheek morphology	257	ALX3	ORPHA:391474
HP:0004426	Abnormal cheek morphology	6595	SMARCA2	OMIM:601358
HP:0004426	Abnormal cheek morphology	7543	ZFX	OMIM:301118
HP:0004426	Abnormal cheek morphology	2719	GPC3	OMIM:312870
HP:0004426	Abnormal cheek morphology	2239	GPC4	OMIM:312870
HP:0004426	Abnormal cheek morphology	5908	RAP1B	OMIM:620654
HP:0004426	Abnormal cheek morphology	23545	ATP6V0A2	ORPHA:2834
HP:0004426	Abnormal cheek morphology	340665	CYP26C1	ORPHA:398189
HP:0004426	Abnormal cheek morphology	4052	LTBP1	ORPHA:90349
HP:0004426	Abnormal cheek morphology	30008	EFEMP2	ORPHA:90349
HP:0004426	Abnormal cheek morphology	10516	FBLN5	ORPHA:90349
HP:0004426	Abnormal cheek morphology	4035	LRP1	ORPHA:79100
HP:0004426	Abnormal cheek morphology	23522	KAT6B	ORPHA:3047
HP:0004426	Abnormal cheek morphology	2263	FGFR2	ORPHA:1555
HP:0004426	Abnormal cheek morphology	2263	FGFR2	OMIM:123790
HP:0004426	Abnormal cheek morphology	6850	SYK	OMIM:619381
HP:0004426	Abnormal cheek morphology	7020	TFAP2A	OMIM:113620
HP:0004426	Abnormal cheek morphology	7020	TFAP2A	ORPHA:1297
HP:0004426	Abnormal cheek morphology	3098	HK1	OMIM:618547
HP:0004426	Abnormal cheek morphology	80036	TRPM3	OMIM:620224
HP:0004426	Abnormal cheek morphology	286	ANK1	ORPHA:251066
HP:0004426	Abnormal cheek morphology	145258	GSC	OMIM:602471
HP:0004426	Abnormal cheek morphology	2702	GJA5	ORPHA:3303
HP:0004426	Abnormal cheek morphology	1482	NKX2-5	ORPHA:3303
HP:0004426	Abnormal cheek morphology	1482	NKX2-5	OMIM:187500
HP:0004426	Abnormal cheek morphology	137814	NKX2-6	ORPHA:3303
HP:0004426	Abnormal cheek morphology	23414	ZFPM2	ORPHA:3303
HP:0004426	Abnormal cheek morphology	23414	ZFPM2	OMIM:187500
HP:0004426	Abnormal cheek morphology	3791	KDR	ORPHA:3303
HP:0004426	Abnormal cheek morphology	2627	GATA6	ORPHA:3303
HP:0004426	Abnormal cheek morphology	2627	GATA6	OMIM:187500
HP:0004426	Abnormal cheek morphology	2657	GDF1	ORPHA:3303
HP:0004426	Abnormal cheek morphology	182	JAG1	ORPHA:3303
HP:0004426	Abnormal cheek morphology	182	JAG1	OMIM:187500
HP:0004426	Abnormal cheek morphology	6899	TBX1	ORPHA:3303
HP:0004426	Abnormal cheek morphology	6899	TBX1	OMIM:187500
HP:0004426	Abnormal cheek morphology	140628	GATA5	ORPHA:3303
HP:0004426	Abnormal cheek morphology	2324	FLT4	ORPHA:3303
HP:0004426	Abnormal cheek morphology	10370	CITED2	ORPHA:3303
HP:0004426	Abnormal cheek morphology	3190	HNRNPK	ORPHA:453504
HP:0004426	Abnormal cheek morphology	3190	HNRNPK	ORPHA:352665
HP:0004426	Abnormal cheek morphology	23405	DICER1	OMIM:618272
HP:0004426	Abnormal cheek morphology	51715	RAB23	OMIM:201000
HP:0004426	Abnormal cheek morphology	27031	NPHP3	OMIM:208540
HP:0004426	Abnormal cheek morphology	473	RERE	OMIM:616975
HP:0004426	Abnormal cheek morphology	5500	PPP1CB	OMIM:617506
HP:0004426	Abnormal cheek morphology	4286	MITF	OMIM:617306
HP:0004426	Abnormal cheek morphology	23384	SPECC1L	ORPHA:1519
HP:0004426	Abnormal cheek morphology	23384	SPECC1L	OMIM:145420
HP:0004426	Abnormal cheek morphology	9968	MED12	OMIM:301068
HP:0004426	Abnormal cheek morphology	7994	KAT6A	ORPHA:457193
HP:0004426	Abnormal cheek morphology	3759	KCNJ2	OMIM:170390
HP:0004426	Abnormal cheek morphology	54872	PIGG	ORPHA:280
HP:0004426	Abnormal cheek morphology	7469	NELFA	ORPHA:280
HP:0004426	Abnormal cheek morphology	9451	EIF2AK3	OMIM:226980
HP:0004426	Abnormal cheek morphology	4281	MID1	ORPHA:2745
HP:0004426	Abnormal cheek morphology	7319	UBE2A	ORPHA:163956
HP:0004426	Abnormal cheek morphology	64132	XYLT2	ORPHA:85194
HP:0004426	Abnormal cheek morphology	78987	CRELD1	OMIM:620771
HP:0004426	Abnormal cheek morphology	58499	ZNF462	OMIM:618619
HP:0004426	Abnormal cheek morphology	857	CAV1	OMIM:606721
HP:0004426	Abnormal cheek morphology	10382	TUBB4A	ORPHA:98805
HP:0004426	Abnormal cheek morphology	10382	TUBB4A	OMIM:128101
HP:0004426	Abnormal cheek morphology	55768	NGLY1	OMIM:615273
HP:0004426	Abnormal cheek morphology	165	AEBP1	ORPHA:536532
HP:0004426	Abnormal cheek morphology	5702	PSMC3	OMIM:619354
HP:0004426	Abnormal cheek morphology	529	ATP6V1E1	OMIM:617402
HP:0004426	Abnormal cheek morphology	5831	PYCR1	OMIM:612940
HP:0004426	Abnormal cheek morphology	26053	AUTS2	ORPHA:352490
HP:0004425	Flat forehead	9401	RECQL4	OMIM:218600
HP:0004425	Flat forehead	113189	CHST14	OMIM:601776
HP:0004425	Flat forehead	91949	COG7	OMIM:608779
HP:0004425	Flat forehead	11285	B4GALT7	OMIM:130070
HP:0004425	Flat forehead	818	CAMK2G	OMIM:618522
HP:0004425	Flat forehead	3590	IL11RA	OMIM:614188
HP:0004425	Flat forehead	55699	IARS2	OMIM:616007
HP:0004425	Flat forehead	2263	FGFR2	OMIM:101400
HP:0004425	Flat forehead	7291	TWIST1	OMIM:101400
HP:0004425	Flat forehead	3708	ITPR1	OMIM:117360
HP:0004425	Flat forehead	2132	EXT2	ORPHA:466926
HP:0004425	Flat forehead	11145	PLAAT3	OMIM:620683
HP:0004425	Flat forehead	90459	ERI1	OMIM:620662
HP:0004425	Flat forehead	4041	LRP5	OMIM:144750
HP:0004425	Flat forehead	5293	PIK3CD	ORPHA:221139
HP:0004425	Flat forehead	90417	KNSTRN	ORPHA:221139
HP:0004425	Flat forehead	3756	KCNH1	OMIM:611816
HP:0004400	Abnormality of the pylorus	23476	BRD4	ORPHA:199
HP:0004400	Abnormality of the pylorus	9126	SMC3	ORPHA:199
HP:0004400	Abnormality of the pylorus	8243	SMC1A	ORPHA:199
HP:0004400	Abnormality of the pylorus	6878	TAF6	ORPHA:199
HP:0004400	Abnormality of the pylorus	25836	NIPBL	ORPHA:199
HP:0004400	Abnormality of the pylorus	25836	NIPBL	OMIM:122470
HP:0004400	Abnormality of the pylorus	55869	HDAC8	ORPHA:199
HP:0004400	Abnormality of the pylorus	5885	RAD21	ORPHA:199
HP:0004400	Abnormality of the pylorus	375	ARF1	ORPHA:98892
HP:0004400	Abnormality of the pylorus	4131	MAP1B	ORPHA:98892
HP:0004400	Abnormality of the pylorus	2316	FLNA	ORPHA:98892
HP:0004400	Abnormality of the pylorus	2316	FLNA	OMIM:300048
HP:0004400	Abnormality of the pylorus	23327	NEDD4L	ORPHA:98892
HP:0004400	Abnormality of the pylorus	160418	TMTC3	ORPHA:98892
HP:0004400	Abnormality of the pylorus	10564	ARFGEF2	ORPHA:98892
HP:0004400	Abnormality of the pylorus	55780	ERMARD	ORPHA:98892
HP:0004400	Abnormality of the pylorus	54880	BCOR	OMIM:309800
HP:0004400	Abnormality of the pylorus	8260	NAA10	OMIM:309800
HP:0004400	Abnormality of the pylorus	1859	DYRK1A	ORPHA:268261
HP:0004400	Abnormality of the pylorus	57680	CHD8	OMIM:615032
HP:0004400	Abnormality of the pylorus	91754	NEK9	OMIM:614262
HP:0004400	Abnormality of the pylorus	8425	LTBP4	OMIM:613177
HP:0004400	Abnormality of the pylorus	9508	ADAMTS3	ORPHA:2136
HP:0004400	Abnormality of the pylorus	147372	CCBE1	ORPHA:2136
HP:0004400	Abnormality of the pylorus	79633	FAT4	ORPHA:2136
HP:0004400	Abnormality of the pylorus	6885	MAP3K7	OMIM:617137
HP:0004400	Abnormality of the pylorus	4744	NEFH	OMIM:616924
HP:0004400	Abnormality of the pylorus	9759	HDAC4	ORPHA:1001
HP:0004400	Abnormality of the pylorus	5590	PRKCZ	ORPHA:1606
HP:0004400	Abnormality of the pylorus	2563	GABRD	ORPHA:1606
HP:0004400	Abnormality of the pylorus	23013	SPEN	ORPHA:1606
HP:0004400	Abnormality of the pylorus	8510	MMP23B	ORPHA:1606
HP:0004400	Abnormality of the pylorus	7798	LUZP1	ORPHA:1606
HP:0004400	Abnormality of the pylorus	6497	SKI	ORPHA:1606
HP:0004400	Abnormality of the pylorus	10630	PDPN	ORPHA:1606
HP:0004400	Abnormality of the pylorus	3339	HSPG2	ORPHA:1606
HP:0004400	Abnormality of the pylorus	10277	UBE4B	ORPHA:1606
HP:0004400	Abnormality of the pylorus	8514	KCNAB2	ORPHA:1606
HP:0004400	Abnormality of the pylorus	473	RERE	ORPHA:1606
HP:0004400	Abnormality of the pylorus	63976	PRDM16	ORPHA:1606
HP:0004400	Abnormality of the pylorus	54897	CASZ1	ORPHA:1606
HP:0004400	Abnormality of the pylorus	81031	SLC2A10	ORPHA:3342
HP:0004400	Abnormality of the pylorus	4534	MTM1	OMIM:310400
HP:0004400	Abnormality of the pylorus	6928	HNF1B	ORPHA:93111
HP:0004400	Abnormality of the pylorus	9839	ZEB2	OMIM:235730
HP:0004400	Abnormality of the pylorus	9839	ZEB2	ORPHA:261537
HP:0004400	Abnormality of the pylorus	9839	ZEB2	ORPHA:261552
HP:0004400	Abnormality of the pylorus	274	BIN1	ORPHA:169189
HP:0004400	Abnormality of the pylorus	64419	MTMR14	ORPHA:169189
HP:0004400	Abnormality of the pylorus	4618	MYF6	ORPHA:169189
HP:0004400	Abnormality of the pylorus	1785	DNM2	ORPHA:169189
HP:0004400	Abnormality of the pylorus	6261	RYR1	ORPHA:169189
HP:0004400	Abnormality of the pylorus	80781	COL18A1	OMIM:267750
HP:0004400	Abnormality of the pylorus	80781	COL18A1	ORPHA:1571
HP:0004400	Abnormality of the pylorus	388015	RTL1	ORPHA:96184
HP:0004400	Abnormality of the pylorus	8788	DLK1	ORPHA:96184
HP:0004400	Abnormality of the pylorus	55384	MEG3	ORPHA:96184
HP:0004400	Abnormality of the pylorus	374879	ZNF699	OMIM:619488
HP:0004400	Abnormality of the pylorus	613	BCR	ORPHA:261330
HP:0004400	Abnormality of the pylorus	1399	CRKL	ORPHA:261330
HP:0004400	Abnormality of the pylorus	5594	MAPK1	ORPHA:261330
HP:0004400	Abnormality of the pylorus	1723	DHODH	OMIM:263750
HP:0004400	Abnormality of the pylorus	5831	PYCR1	OMIM:614438
HP:0004400	Abnormality of the pylorus	1717	DHCR7	ORPHA:818
HP:0004400	Abnormality of the pylorus	1717	DHCR7	OMIM:270400
HP:0004400	Abnormality of the pylorus	9968	MED12	OMIM:305450
HP:0004400	Abnormality of the pylorus	9968	MED12	ORPHA:93932
HP:0004400	Abnormality of the pylorus	1536	CYBB	ORPHA:379
HP:0004400	Abnormality of the pylorus	4688	NCF2	ORPHA:379
HP:0004400	Abnormality of the pylorus	1535	CYBA	ORPHA:379
HP:0004400	Abnormality of the pylorus	4689	NCF4	ORPHA:379
HP:0004400	Abnormality of the pylorus	653361	NCF1	ORPHA:379
HP:0004400	Abnormality of the pylorus	79415	CYBC1	ORPHA:379
HP:0004400	Abnormality of the pylorus	6926	TBX3	ORPHA:3138
HP:0004400	Abnormality of the pylorus	6926	TBX3	OMIM:181450
HP:0004400	Abnormality of the pylorus	4868	NPHS1	OMIM:256300
HP:0004400	Abnormality of the pylorus	63895	PIEZO2	OMIM:248700
HP:0004400	Abnormality of the pylorus	63895	PIEZO2	ORPHA:2461
HP:0004400	Abnormality of the pylorus	4784	NFIX	OMIM:602535
HP:0004400	Abnormality of the pylorus	5528	PPP2R5D	ORPHA:457279
HP:0004400	Abnormality of the pylorus	5528	PPP2R5D	OMIM:616355
HP:0004400	Abnormality of the pylorus	4791	NFKB2	OMIM:615577
HP:0004400	Abnormality of the pylorus	4052	LTBP1	ORPHA:90349
HP:0004400	Abnormality of the pylorus	30008	EFEMP2	ORPHA:90349
HP:0004400	Abnormality of the pylorus	10516	FBLN5	ORPHA:90349
HP:0004400	Abnormality of the pylorus	284058	KANSL1	OMIM:610443
HP:0004400	Abnormality of the pylorus	9896	FIG4	OMIM:216340
HP:0004400	Abnormality of the pylorus	9896	FIG4	ORPHA:3472
HP:0004400	Abnormality of the pylorus	7020	TFAP2A	OMIM:113620
HP:0004400	Abnormality of the pylorus	3914	LAMB3	OMIM:226700
HP:0004400	Abnormality of the pylorus	3918	LAMC2	OMIM:226700
HP:0004400	Abnormality of the pylorus	3909	LAMA3	OMIM:226700
HP:0004400	Abnormality of the pylorus	55697	VAC14	ORPHA:3472
HP:0004400	Abnormality of the pylorus	404672	GTF2H5	OMIM:616395
HP:0004400	Abnormality of the pylorus	25970	SH2B1	ORPHA:261197
HP:0004400	Abnormality of the pylorus	127833	SYT2	OMIM:619461
HP:0004400	Abnormality of the pylorus	7543	ZFX	OMIM:301118
HP:0004400	Abnormality of the pylorus	529	ATP6V1E1	OMIM:617402
HP:0004400	Abnormality of the pylorus	55012	PPP2R3C	OMIM:618419
HP:0004400	Abnormality of the pylorus	5062	PAK2	OMIM:618458
HP:0004400	Abnormality of the pylorus	5062	PAK2	ORPHA:1571
HP:0004400	Abnormality of the pylorus	284119	CAVIN1	OMIM:613327
HP:0004400	Abnormality of the pylorus	2582	GALE	OMIM:620776
HP:0004400	Abnormality of the pylorus	55670	PEX26	ORPHA:912
HP:0004400	Abnormality of the pylorus	5824	PEX19	ORPHA:912
HP:0004400	Abnormality of the pylorus	5828	PEX2	ORPHA:912
HP:0004400	Abnormality of the pylorus	8504	PEX3	ORPHA:912
HP:0004400	Abnormality of the pylorus	8799	PEX11B	ORPHA:912
HP:0004400	Abnormality of the pylorus	9409	PEX16	ORPHA:912
HP:0004400	Abnormality of the pylorus	5190	PEX6	ORPHA:912
HP:0004400	Abnormality of the pylorus	5830	PEX5	ORPHA:912
HP:0004400	Abnormality of the pylorus	5189	PEX1	ORPHA:912
HP:0004400	Abnormality of the pylorus	5193	PEX12	ORPHA:912
HP:0004400	Abnormality of the pylorus	5194	PEX13	ORPHA:912
HP:0004400	Abnormality of the pylorus	5195	PEX14	ORPHA:912
HP:0004400	Abnormality of the pylorus	5192	PEX10	ORPHA:912
HP:0004400	Abnormality of the pylorus	3265	HRAS	OMIM:218040
HP:0004400	Abnormality of the pylorus	871	SERPINH1	OMIM:613848
HP:0004400	Abnormality of the pylorus	2313	FLI1	ORPHA:2308
HP:0004400	Abnormality of the pylorus	2263	FGFR2	OMIM:101200
HP:0004400	Abnormality of the pylorus	3655	ITGA6	ORPHA:79403
HP:0004400	Abnormality of the pylorus	3655	ITGA6	OMIM:619817
HP:0004400	Abnormality of the pylorus	3691	ITGB4	ORPHA:79403
HP:0004400	Abnormality of the pylorus	3691	ITGB4	OMIM:226730
HP:0004400	Abnormality of the pylorus	3691	ITGB4	ORPHA:158684
HP:0004400	Abnormality of the pylorus	5339	PLEC	OMIM:612138
HP:0004400	Abnormality of the pylorus	5339	PLEC	OMIM:226730
HP:0004400	Abnormality of the pylorus	5339	PLEC	ORPHA:158684
HP:0005280	Depressed nasal bridge	2137	EXTL3	ORPHA:508533
HP:0005280	Depressed nasal bridge	2137	EXTL3	OMIM:617425
HP:0005280	Depressed nasal bridge	23394	ADNP	ORPHA:404448
HP:0005280	Depressed nasal bridge	340533	NEXMIF	OMIM:300912
HP:0005280	Depressed nasal bridge	8294	H4C9	OMIM:619951
HP:0005280	Depressed nasal bridge	23019	CNOT1	OMIM:618500
HP:0005280	Depressed nasal bridge	28981	IFT81	OMIM:617895
HP:0005280	Depressed nasal bridge	50651	SLC45A1	OMIM:617532
HP:0005280	Depressed nasal bridge	5728	PTEN	OMIM:605309
HP:0005280	Depressed nasal bridge	5728	PTEN	ORPHA:210548
HP:0005280	Depressed nasal bridge	5728	PTEN	ORPHA:79076
HP:0005280	Depressed nasal bridge	1763	DNA2	OMIM:620819
HP:0005280	Depressed nasal bridge	54101	RIPK4	ORPHA:1401
HP:0005280	Depressed nasal bridge	2697	GJA1	ORPHA:1522
HP:0005280	Depressed nasal bridge	56172	ANKH	ORPHA:1522
HP:0005280	Depressed nasal bridge	23135	KDM6B	OMIM:618505
HP:0005280	Depressed nasal bridge	6228	RPS23	OMIM:617412
HP:0005280	Depressed nasal bridge	55627	SMPD4	OMIM:618622
HP:0005280	Depressed nasal bridge	10973	ASCC3	OMIM:620700
HP:0005280	Depressed nasal bridge	7360	UGP2	OMIM:618744
HP:0005280	Depressed nasal bridge	4897	NRCAM	OMIM:619833
HP:0005280	Depressed nasal bridge	5361	PLXNA1	OMIM:619955
HP:0005280	Depressed nasal bridge	5077	PAX3	ORPHA:1529
HP:0005280	Depressed nasal bridge	5077	PAX3	OMIM:122880
HP:0005280	Depressed nasal bridge	51	ACOX1	ORPHA:2971
HP:0005280	Depressed nasal bridge	51	ACOX1	OMIM:264470
HP:0005280	Depressed nasal bridge	55209	SETD5	ORPHA:404440
HP:0005280	Depressed nasal bridge	55209	SETD5	OMIM:615761
HP:0005280	Depressed nasal bridge	79848	CSPP1	ORPHA:397715
HP:0005280	Depressed nasal bridge	9786	KIAA0586	ORPHA:397715
HP:0005280	Depressed nasal bridge	9786	KIAA0586	OMIM:616546
HP:0005280	Depressed nasal bridge	4125	MAN2B1	ORPHA:309282
HP:0005280	Depressed nasal bridge	6662	SOX9	ORPHA:140
HP:0005280	Depressed nasal bridge	6662	SOX9	OMIM:114290
HP:0005280	Depressed nasal bridge	116931	MED12L	OMIM:618872
HP:0005280	Depressed nasal bridge	9578	CDC42BPB	OMIM:619841
HP:0005280	Depressed nasal bridge	3020	H3-3A	OMIM:619720
HP:0005280	Depressed nasal bridge	80816	ASXL3	OMIM:615485
HP:0005280	Depressed nasal bridge	220296	HEPACAM	ORPHA:210548
HP:0005280	Depressed nasal bridge	6536	SLC6A9	OMIM:617301
HP:0005280	Depressed nasal bridge	1855	DVL1	OMIM:616331
HP:0005280	Depressed nasal bridge	1855	DVL1	OMIM:180700
HP:0005280	Depressed nasal bridge	1855	DVL1	ORPHA:3107
HP:0005280	Depressed nasal bridge	8942	KYNU	OMIM:617661
HP:0005280	Depressed nasal bridge	55790	CSGALNACT1	OMIM:618870
HP:0005280	Depressed nasal bridge	55790	CSGALNACT1	ORPHA:1425
HP:0005280	Depressed nasal bridge	27245	AHDC1	ORPHA:412069
HP:0005280	Depressed nasal bridge	27245	AHDC1	OMIM:615829
HP:0005280	Depressed nasal bridge	5184	PEPD	OMIM:170100
HP:0005280	Depressed nasal bridge	5184	PEPD	ORPHA:742
HP:0005280	Depressed nasal bridge	79158	GNPTAB	OMIM:252500
HP:0005280	Depressed nasal bridge	79158	GNPTAB	OMIM:252600
HP:0005280	Depressed nasal bridge	79158	GNPTAB	ORPHA:576
HP:0005280	Depressed nasal bridge	79158	GNPTAB	ORPHA:423461
HP:0005280	Depressed nasal bridge	55636	CHD7	ORPHA:138
HP:0005280	Depressed nasal bridge	55636	CHD7	ORPHA:432
HP:0005280	Depressed nasal bridge	9723	SEMA3E	ORPHA:138
HP:0005280	Depressed nasal bridge	57231	SNX14	ORPHA:397709
HP:0005280	Depressed nasal bridge	50964	SOST	ORPHA:1513
HP:0005280	Depressed nasal bridge	50964	SOST	OMIM:122860
HP:0005280	Depressed nasal bridge	50964	SOST	OMIM:269500
HP:0005280	Depressed nasal bridge	121340	SP7	ORPHA:1513
HP:0005280	Depressed nasal bridge	121340	SP7	OMIM:613849
HP:0005280	Depressed nasal bridge	7252	TSHB	ORPHA:90674
HP:0005280	Depressed nasal bridge	7252	TSHB	OMIM:275100
HP:0005280	Depressed nasal bridge	1896	EDA	OMIM:305100
HP:0005280	Depressed nasal bridge	6023	RMRP	ORPHA:175
HP:0005280	Depressed nasal bridge	55870	ASH1L	OMIM:617796
HP:0005280	Depressed nasal bridge	25885	POLR1A	OMIM:616462
HP:0005280	Depressed nasal bridge	79029	AFG2B	OMIM:619616
HP:0005280	Depressed nasal bridge	7021	TFAP2B	ORPHA:46627
HP:0005280	Depressed nasal bridge	2261	FGFR3	OMIM:146000
HP:0005280	Depressed nasal bridge	2261	FGFR3	ORPHA:1860
HP:0005280	Depressed nasal bridge	2261	FGFR3	OMIM:616482
HP:0005280	Depressed nasal bridge	2261	FGFR3	ORPHA:794
HP:0005280	Depressed nasal bridge	2261	FGFR3	ORPHA:15
HP:0005280	Depressed nasal bridge	2261	FGFR3	ORPHA:93274
HP:0005280	Depressed nasal bridge	2261	FGFR3	OMIM:100800
HP:0005280	Depressed nasal bridge	10606	PAICS	OMIM:619859
HP:0005280	Depressed nasal bridge	11232	POLG2	OMIM:618528
HP:0005280	Depressed nasal bridge	55681	SCYL2	OMIM:618766
HP:0005280	Depressed nasal bridge	1009	CDH11	OMIM:619736
HP:0005280	Depressed nasal bridge	1009	CDH11	ORPHA:1299
HP:0005280	Depressed nasal bridge	64359	NXN	ORPHA:1507
HP:0005280	Depressed nasal bridge	4920	ROR2	ORPHA:1507
HP:0005280	Depressed nasal bridge	4920	ROR2	OMIM:268310
HP:0005280	Depressed nasal bridge	5191	PEX7	OMIM:215100
HP:0005280	Depressed nasal bridge	7020	TFAP2A	OMIM:113620
HP:0005280	Depressed nasal bridge	1302	COL11A2	OMIM:184840
HP:0005280	Depressed nasal bridge	1302	COL11A2	ORPHA:2021
HP:0005280	Depressed nasal bridge	1302	COL11A2	OMIM:215150
HP:0005280	Depressed nasal bridge	1302	COL11A2	ORPHA:1427
HP:0005280	Depressed nasal bridge	6872	TAF1	ORPHA:480907
HP:0005280	Depressed nasal bridge	171023	ASXL1	ORPHA:97297
HP:0005280	Depressed nasal bridge	171023	ASXL1	OMIM:605039
HP:0005280	Depressed nasal bridge	8726	EED	OMIM:617561
HP:0005280	Depressed nasal bridge	5159	PDGFRB	OMIM:616592
HP:0005280	Depressed nasal bridge	1193	CLIC2	ORPHA:324410
HP:0005280	Depressed nasal bridge	4330	MN1	OMIM:618774
HP:0005280	Depressed nasal bridge	5442	POLRMT	OMIM:619743
HP:0005280	Depressed nasal bridge	1301	COL11A1	OMIM:228520
HP:0005280	Depressed nasal bridge	1301	COL11A1	OMIM:604841
HP:0005280	Depressed nasal bridge	1301	COL11A1	ORPHA:560
HP:0005280	Depressed nasal bridge	1301	COL11A1	OMIM:154780
HP:0005280	Depressed nasal bridge	1301	COL11A1	ORPHA:2021
HP:0005280	Depressed nasal bridge	84314	TMEM107	OMIM:617563
HP:0005280	Depressed nasal bridge	54872	PIGG	ORPHA:488635
HP:0005280	Depressed nasal bridge	2783	GNB2	OMIM:619503
HP:0005280	Depressed nasal bridge	11193	WBP4	OMIM:620852
HP:0005280	Depressed nasal bridge	6602	SMARCD1	OMIM:618779
HP:0005280	Depressed nasal bridge	6602	SMARCD1	ORPHA:1465
HP:0005280	Depressed nasal bridge	26040	SETBP1	OMIM:269150
HP:0005280	Depressed nasal bridge	26834	RNU4-2	OMIM:620851
HP:0005280	Depressed nasal bridge	2316	FLNA	ORPHA:90650
HP:0005280	Depressed nasal bridge	2316	FLNA	ORPHA:90652
HP:0005280	Depressed nasal bridge	2316	FLNA	OMIM:304120
HP:0005280	Depressed nasal bridge	5373	PMM2	OMIM:212065
HP:0005280	Depressed nasal bridge	81794	ADAMTS10	OMIM:277600
HP:0005280	Depressed nasal bridge	1789	DNMT3B	OMIM:242860
HP:0005280	Depressed nasal bridge	1789	DNMT3B	ORPHA:2268
HP:0005280	Depressed nasal bridge	3981	LIG4	ORPHA:235
HP:0005280	Depressed nasal bridge	54888	NSUN2	ORPHA:235
HP:0005280	Depressed nasal bridge	92482	BBIP1	ORPHA:110
HP:0005280	Depressed nasal bridge	80184	CEP290	ORPHA:110
HP:0005280	Depressed nasal bridge	11020	IFT27	ORPHA:110
HP:0005280	Depressed nasal bridge	582	BBS1	ORPHA:110
HP:0005280	Depressed nasal bridge	49855	SCAPER	ORPHA:110
HP:0005280	Depressed nasal bridge	4867	NPHP1	ORPHA:110
HP:0005280	Depressed nasal bridge	51057	WDPCP	ORPHA:110
HP:0005280	Depressed nasal bridge	132320	SCLT1	ORPHA:110
HP:0005280	Depressed nasal bridge	27241	BBS9	ORPHA:110
HP:0005280	Depressed nasal bridge	84984	CEP19	ORPHA:110
HP:0005280	Depressed nasal bridge	22954	TRIM32	ORPHA:110
HP:0005280	Depressed nasal bridge	54903	MKS1	ORPHA:110
HP:0005280	Depressed nasal bridge	79738	BBS10	ORPHA:110
HP:0005280	Depressed nasal bridge	123016	TTC8	ORPHA:110
HP:0005280	Depressed nasal bridge	26160	IFT172	ORPHA:110
HP:0005280	Depressed nasal bridge	583	BBS2	ORPHA:110
HP:0005280	Depressed nasal bridge	583	BBS2	OMIM:615981
HP:0005280	Depressed nasal bridge	585	BBS4	ORPHA:110
HP:0005280	Depressed nasal bridge	8195	MKKS	ORPHA:110
HP:0005280	Depressed nasal bridge	54585	LZTFL1	ORPHA:110
HP:0005280	Depressed nasal bridge	55212	BBS7	ORPHA:110
HP:0005280	Depressed nasal bridge	55212	BBS7	OMIM:615984
HP:0005280	Depressed nasal bridge	166379	BBS12	ORPHA:110
HP:0005280	Depressed nasal bridge	10806	SDCCAG8	ORPHA:110
HP:0005280	Depressed nasal bridge	157657	CFAP418	ORPHA:110
HP:0005280	Depressed nasal bridge	84100	ARL6	ORPHA:110
HP:0005280	Depressed nasal bridge	129880	BBS5	ORPHA:110
HP:0005280	Depressed nasal bridge	80173	IFT74	ORPHA:110
HP:0005280	Depressed nasal bridge	80173	IFT74	OMIM:619582
HP:0005280	Depressed nasal bridge	56006	SMG9	OMIM:619995
HP:0005280	Depressed nasal bridge	56006	SMG9	OMIM:616920
HP:0005280	Depressed nasal bridge	3043	HBB	ORPHA:231214
HP:0005280	Depressed nasal bridge	3043	HBB	ORPHA:231226
HP:0005280	Depressed nasal bridge	6905	TBCE	OMIM:241410
HP:0005280	Depressed nasal bridge	6905	TBCE	ORPHA:2323
HP:0005280	Depressed nasal bridge	3590	IL11RA	OMIM:614188
HP:0005280	Depressed nasal bridge	51604	PIGT	OMIM:615398
HP:0005280	Depressed nasal bridge	51604	PIGT	ORPHA:369837
HP:0005280	Depressed nasal bridge	23126	POGZ	OMIM:616364
HP:0005280	Depressed nasal bridge	23126	POGZ	ORPHA:468678
HP:0005280	Depressed nasal bridge	54914	FOCAD	OMIM:619991
HP:0005280	Depressed nasal bridge	8558	CDK10	OMIM:617694
HP:0005280	Depressed nasal bridge	3572	IL6ST	OMIM:619750
HP:0005280	Depressed nasal bridge	55699	IARS2	OMIM:616007
HP:0005280	Depressed nasal bridge	8363	H4C11	OMIM:619759
HP:0005280	Depressed nasal bridge	4613	MYCN	OMIM:620748
HP:0005280	Depressed nasal bridge	79633	FAT4	OMIM:616006
HP:0005280	Depressed nasal bridge	79633	FAT4	ORPHA:2136
HP:0005280	Depressed nasal bridge	79633	FAT4	OMIM:615546
HP:0005280	Depressed nasal bridge	9841	ZBTB24	OMIM:614069
HP:0005280	Depressed nasal bridge	9841	ZBTB24	ORPHA:2268
HP:0005280	Depressed nasal bridge	5590	PRKCZ	ORPHA:1606
HP:0005280	Depressed nasal bridge	2563	GABRD	ORPHA:1606
HP:0005280	Depressed nasal bridge	23013	SPEN	ORPHA:1606
HP:0005280	Depressed nasal bridge	23013	SPEN	OMIM:619312
HP:0005280	Depressed nasal bridge	8510	MMP23B	ORPHA:1606
HP:0005280	Depressed nasal bridge	7798	LUZP1	ORPHA:1606
HP:0005280	Depressed nasal bridge	6497	SKI	ORPHA:1606
HP:0005280	Depressed nasal bridge	10630	PDPN	ORPHA:1606
HP:0005280	Depressed nasal bridge	3339	HSPG2	ORPHA:1606
HP:0005280	Depressed nasal bridge	10277	UBE4B	ORPHA:1606
HP:0005280	Depressed nasal bridge	8514	KCNAB2	ORPHA:1606
HP:0005280	Depressed nasal bridge	473	RERE	ORPHA:1606
HP:0005280	Depressed nasal bridge	63976	PRDM16	ORPHA:1606
HP:0005280	Depressed nasal bridge	54897	CASZ1	ORPHA:1606
HP:0005280	Depressed nasal bridge	286	ANK1	ORPHA:251066
HP:0005280	Depressed nasal bridge	285362	SUMF1	ORPHA:585
HP:0005280	Depressed nasal bridge	2736	GLI2	OMIM:610829
HP:0005280	Depressed nasal bridge	79796	ALG9	ORPHA:79328
HP:0005280	Depressed nasal bridge	79796	ALG9	OMIM:608776
HP:0005280	Depressed nasal bridge	26137	ZBTB20	OMIM:259050
HP:0005280	Depressed nasal bridge	253959	RALGAPA1	OMIM:618797
HP:0005280	Depressed nasal bridge	51098	IFT52	OMIM:617102
HP:0005280	Depressed nasal bridge	113179	ADAT3	OMIM:615286
HP:0005280	Depressed nasal bridge	113179	ADAT3	ORPHA:363528
HP:0005280	Depressed nasal bridge	6942	TCF20	OMIM:618430
HP:0005280	Depressed nasal bridge	50485	SMARCAL1	ORPHA:1830
HP:0005280	Depressed nasal bridge	50485	SMARCAL1	OMIM:242900
HP:0005280	Depressed nasal bridge	4285	MIPEP	OMIM:617228
HP:0005280	Depressed nasal bridge	2263	FGFR2	OMIM:123790
HP:0005280	Depressed nasal bridge	2263	FGFR2	OMIM:101200
HP:0005280	Depressed nasal bridge	2263	FGFR2	ORPHA:794
HP:0005280	Depressed nasal bridge	2263	FGFR2	OMIM:101600
HP:0005280	Depressed nasal bridge	2263	FGFR2	ORPHA:87
HP:0005280	Depressed nasal bridge	2263	FGFR2	ORPHA:93260
HP:0005280	Depressed nasal bridge	2263	FGFR2	ORPHA:93258
HP:0005280	Depressed nasal bridge	2263	FGFR2	ORPHA:93259
HP:0005280	Depressed nasal bridge	2263	FGFR2	OMIM:207410
HP:0005280	Depressed nasal bridge	2263	FGFR2	ORPHA:1555
HP:0005280	Depressed nasal bridge	9772	TMEM94	OMIM:618316
HP:0005280	Depressed nasal bridge	124583	CANT1	OMIM:251450
HP:0005280	Depressed nasal bridge	124583	CANT1	ORPHA:1425
HP:0005280	Depressed nasal bridge	3373	HYAL1	OMIM:601492
HP:0005280	Depressed nasal bridge	2271	FH	OMIM:606812
HP:0005280	Depressed nasal bridge	3930	LBR	OMIM:215140
HP:0005280	Depressed nasal bridge	3930	LBR	OMIM:169400
HP:0005280	Depressed nasal bridge	3930	LBR	OMIM:618019
HP:0005280	Depressed nasal bridge	57724	EPG5	OMIM:242840
HP:0005280	Depressed nasal bridge	23556	PIGN	OMIM:614080
HP:0005280	Depressed nasal bridge	775	CACNA1C	OMIM:601005
HP:0005280	Depressed nasal bridge	775	CACNA1C	OMIM:620029
HP:0005280	Depressed nasal bridge	7030	TFE3	OMIM:301066
HP:0005280	Depressed nasal bridge	79989	IFT56	OMIM:619534
HP:0005280	Depressed nasal bridge	10848	PPP1R13L	OMIM:620519
HP:0005280	Depressed nasal bridge	8565	YARS1	OMIM:619418
HP:0005280	Depressed nasal bridge	84168	ANTXR1	OMIM:230740
HP:0005280	Depressed nasal bridge	84168	ANTXR1	ORPHA:2067
HP:0005280	Depressed nasal bridge	2260	FGFR1	OMIM:166250
HP:0005280	Depressed nasal bridge	2260	FGFR1	ORPHA:432
HP:0005280	Depressed nasal bridge	2260	FGFR1	OMIM:101600
HP:0005280	Depressed nasal bridge	2260	FGFR1	ORPHA:93258
HP:0005280	Depressed nasal bridge	2260	FGFR1	ORPHA:2117
HP:0005280	Depressed nasal bridge	25836	NIPBL	OMIM:122470
HP:0005280	Depressed nasal bridge	25836	NIPBL	ORPHA:199
HP:0005280	Depressed nasal bridge	23499	MACF1	OMIM:618325
HP:0005280	Depressed nasal bridge	23219	FBXO28	OMIM:619777
HP:0005280	Depressed nasal bridge	4087	SMAD2	OMIM:619657
HP:0005280	Depressed nasal bridge	51322	WAC	ORPHA:466950
HP:0005280	Depressed nasal bridge	51322	WAC	ORPHA:284169
HP:0005280	Depressed nasal bridge	51322	WAC	OMIM:616708
HP:0005280	Depressed nasal bridge	2778	GNAS	ORPHA:79443
HP:0005280	Depressed nasal bridge	2778	GNAS	ORPHA:79444
HP:0005280	Depressed nasal bridge	2778	GNAS	ORPHA:94089
HP:0005280	Depressed nasal bridge	2778	GNAS	OMIM:612463
HP:0005280	Depressed nasal bridge	2778	GNAS	OMIM:612462
HP:0005280	Depressed nasal bridge	2778	GNAS	OMIM:103580
HP:0005280	Depressed nasal bridge	8813	DPM1	ORPHA:79322
HP:0005280	Depressed nasal bridge	8813	DPM1	OMIM:608799
HP:0005280	Depressed nasal bridge	3756	KCNH1	OMIM:611816
HP:0005280	Depressed nasal bridge	3756	KCNH1	ORPHA:420561
HP:0005280	Depressed nasal bridge	1280	COL2A1	ORPHA:485
HP:0005280	Depressed nasal bridge	1280	COL2A1	OMIM:156550
HP:0005280	Depressed nasal bridge	1280	COL2A1	ORPHA:85166
HP:0005280	Depressed nasal bridge	1280	COL2A1	OMIM:271700
HP:0005280	Depressed nasal bridge	1280	COL2A1	OMIM:151210
HP:0005280	Depressed nasal bridge	1280	COL2A1	OMIM:108300
HP:0005280	Depressed nasal bridge	10195	ALG3	OMIM:601110
HP:0005280	Depressed nasal bridge	6138	RPL15	ORPHA:124
HP:0005280	Depressed nasal bridge	6224	RPS20	ORPHA:124
HP:0005280	Depressed nasal bridge	6165	RPL35A	ORPHA:124
HP:0005280	Depressed nasal bridge	6132	RPL8	ORPHA:124
HP:0005280	Depressed nasal bridge	6223	RPS19	ORPHA:124
HP:0005280	Depressed nasal bridge	6232	RPS27	ORPHA:124
HP:0005280	Depressed nasal bridge	55027	HEATR3	ORPHA:124
HP:0005280	Depressed nasal bridge	6160	RPL31	ORPHA:124
HP:0005280	Depressed nasal bridge	6201	RPS7	ORPHA:124
HP:0005280	Depressed nasal bridge	6155	RPL27	ORPHA:124
HP:0005280	Depressed nasal bridge	6234	RPS28	ORPHA:124
HP:0005280	Depressed nasal bridge	6135	RPL11	ORPHA:124
HP:0005280	Depressed nasal bridge	6229	RPS24	ORPHA:124
HP:0005280	Depressed nasal bridge	6125	RPL5	ORPHA:124
HP:0005280	Depressed nasal bridge	6204	RPS10	ORPHA:124
HP:0005280	Depressed nasal bridge	2623	GATA1	ORPHA:124
HP:0005280	Depressed nasal bridge	6133	RPL9	ORPHA:124
HP:0005280	Depressed nasal bridge	6231	RPS26	ORPHA:124
HP:0005280	Depressed nasal bridge	11224	RPL35	ORPHA:124
HP:0005280	Depressed nasal bridge	6218	RPS17	ORPHA:124
HP:0005280	Depressed nasal bridge	6154	RPL26	ORPHA:124
HP:0005280	Depressed nasal bridge	6210	RPS15A	ORPHA:124
HP:0005280	Depressed nasal bridge	90121	TSR2	ORPHA:124
HP:0005280	Depressed nasal bridge	6141	RPL18	ORPHA:124
HP:0005280	Depressed nasal bridge	6235	RPS29	ORPHA:124
HP:0005280	Depressed nasal bridge	51816	ADA2	ORPHA:124
HP:0005280	Depressed nasal bridge	6473	SHOX	ORPHA:240
HP:0005280	Depressed nasal bridge	3845	KRAS	OMIM:600268
HP:0005280	Depressed nasal bridge	3845	KRAS	ORPHA:1340
HP:0005280	Depressed nasal bridge	3845	KRAS	OMIM:609942
HP:0005280	Depressed nasal bridge	1387	CREBBP	OMIM:618332
HP:0005280	Depressed nasal bridge	1387	CREBBP	ORPHA:592574
HP:0005280	Depressed nasal bridge	2033	EP300	OMIM:618333
HP:0005280	Depressed nasal bridge	56160	NSMCE3	OMIM:617241
HP:0005280	Depressed nasal bridge	8295	TRRAP	OMIM:618454
HP:0005280	Depressed nasal bridge	1917	EEF1A2	OMIM:616393
HP:0005280	Depressed nasal bridge	9742	IFT140	OMIM:266920
HP:0005280	Depressed nasal bridge	60529	ALX4	ORPHA:228390
HP:0005280	Depressed nasal bridge	60529	ALX4	OMIM:609597
HP:0005280	Depressed nasal bridge	60529	ALX4	OMIM:613451
HP:0005280	Depressed nasal bridge	5587	PRKD1	OMIM:617364
HP:0005280	Depressed nasal bridge	11338	U2AF2	OMIM:620535
HP:0005280	Depressed nasal bridge	51013	EXOSC1	OMIM:619304
HP:0005280	Depressed nasal bridge	1642	DDB1	OMIM:619426
HP:0005280	Depressed nasal bridge	5908	RAP1B	OMIM:620654
HP:0005280	Depressed nasal bridge	27145	FILIP1	OMIM:620775
HP:0005280	Depressed nasal bridge	6654	SOS1	OMIM:610733
HP:0005280	Depressed nasal bridge	78987	CRELD1	OMIM:620771
HP:0005280	Depressed nasal bridge	6792	CDKL5	ORPHA:1934
HP:0005280	Depressed nasal bridge	3736	KCNA1	ORPHA:1934
HP:0005280	Depressed nasal bridge	9091	PIGQ	ORPHA:1934
HP:0005280	Depressed nasal bridge	140679	SLC32A1	ORPHA:1934
HP:0005280	Depressed nasal bridge	2775	GNAO1	ORPHA:1934
HP:0005280	Depressed nasal bridge	81603	TRIM8	ORPHA:1934
HP:0005280	Depressed nasal bridge	2902	GRIN1	ORPHA:1934
HP:0005280	Depressed nasal bridge	79751	SLC25A22	ORPHA:1934
HP:0005280	Depressed nasal bridge	150094	SIK1	ORPHA:1934
HP:0005280	Depressed nasal bridge	8573	CASK	ORPHA:1934
HP:0005280	Depressed nasal bridge	23312	DMXL2	ORPHA:1934
HP:0005280	Depressed nasal bridge	2917	GRM7	ORPHA:1934
HP:0005280	Depressed nasal bridge	170302	ARX	ORPHA:1934
HP:0005280	Depressed nasal bridge	11284	PNKP	ORPHA:1934
HP:0005280	Depressed nasal bridge	6326	SCN2A	ORPHA:1934
HP:0005280	Depressed nasal bridge	51227	PIGP	ORPHA:1934
HP:0005280	Depressed nasal bridge	6324	SCN1B	ORPHA:1934
HP:0005280	Depressed nasal bridge	4761	NEUROD2	ORPHA:1934
HP:0005280	Depressed nasal bridge	1801	DPH1	ORPHA:459061
HP:0005280	Depressed nasal bridge	1801	DPH1	OMIM:616901
HP:0005280	Depressed nasal bridge	1802	DPH2	ORPHA:459061
HP:0005280	Depressed nasal bridge	389827	MYMK	OMIM:254940
HP:0005280	Depressed nasal bridge	5813	PURA	ORPHA:314655
HP:0005280	Depressed nasal bridge	2879	GPX4	OMIM:250220
HP:0005280	Depressed nasal bridge	7291	TWIST1	ORPHA:794
HP:0005280	Depressed nasal bridge	9949	AMMECR1	OMIM:300990
HP:0005280	Depressed nasal bridge	9949	AMMECR1	ORPHA:86818
HP:0005280	Depressed nasal bridge	9361	LONP1	OMIM:600373
HP:0005280	Depressed nasal bridge	9361	LONP1	ORPHA:1458
HP:0005280	Depressed nasal bridge	4921	DDR2	OMIM:271665
HP:0005280	Depressed nasal bridge	81848	SPRY4	ORPHA:432
HP:0005280	Depressed nasal bridge	128674	PROKR2	ORPHA:432
HP:0005280	Depressed nasal bridge	2253	FGF8	ORPHA:432
HP:0005280	Depressed nasal bridge	60675	PROK2	ORPHA:432
HP:0005280	Depressed nasal bridge	6870	TACR3	ORPHA:432
HP:0005280	Depressed nasal bridge	1848	DUSP6	ORPHA:432
HP:0005280	Depressed nasal bridge	26012	NSMF	ORPHA:432
HP:0005280	Depressed nasal bridge	55717	WDR11	ORPHA:432
HP:0005280	Depressed nasal bridge	4808	NHLH2	ORPHA:432
HP:0005280	Depressed nasal bridge	9394	HS6ST1	ORPHA:432
HP:0005280	Depressed nasal bridge	2796	GNRH1	ORPHA:432
HP:0005280	Depressed nasal bridge	2798	GNRHR	ORPHA:432
HP:0005280	Depressed nasal bridge	84634	KISS1R	ORPHA:432
HP:0005280	Depressed nasal bridge	6866	TAC3	ORPHA:432
HP:0005280	Depressed nasal bridge	8822	FGF17	ORPHA:432
HP:0005280	Depressed nasal bridge	3814	KISS1	ORPHA:432
HP:0005280	Depressed nasal bridge	51574	LARP7	OMIM:615071
HP:0005280	Depressed nasal bridge	6909	TBX2	OMIM:618223
HP:0005280	Depressed nasal bridge	5351	PLOD1	OMIM:225400
HP:0005280	Depressed nasal bridge	10785	WDR4	OMIM:618346
HP:0005280	Depressed nasal bridge	6885	MAP3K7	OMIM:617137
HP:0005280	Depressed nasal bridge	51259	TMEM216	OMIM:608091
HP:0005280	Depressed nasal bridge	23363	OBSL1	OMIM:612921
HP:0005280	Depressed nasal bridge	84320	ACBD6	OMIM:620785
HP:0005280	Depressed nasal bridge	8675	STX16	ORPHA:94089
HP:0005280	Depressed nasal bridge	5308	PITX2	ORPHA:782
HP:0005280	Depressed nasal bridge	2296	FOXC1	ORPHA:782
HP:0005280	Depressed nasal bridge	128869	PIGU	OMIM:618590
HP:0005280	Depressed nasal bridge	5575	PRKAR1B	OMIM:619680
HP:0005280	Depressed nasal bridge	59341	TRPV4	OMIM:156530
HP:0005280	Depressed nasal bridge	59341	TRPV4	OMIM:184252
HP:0005280	Depressed nasal bridge	59341	TRPV4	ORPHA:2635
HP:0005280	Depressed nasal bridge	55869	HDAC8	OMIM:300882
HP:0005280	Depressed nasal bridge	55869	HDAC8	ORPHA:199
HP:0005280	Depressed nasal bridge	650	BMP2	ORPHA:261295
HP:0005280	Depressed nasal bridge	29998	BICRA	OMIM:619325
HP:0005280	Depressed nasal bridge	6651	SON	OMIM:617140
HP:0005280	Depressed nasal bridge	6651	SON	ORPHA:500150
HP:0005280	Depressed nasal bridge	388015	RTL1	ORPHA:254528
HP:0005280	Depressed nasal bridge	388015	RTL1	ORPHA:96184
HP:0005280	Depressed nasal bridge	388015	RTL1	ORPHA:96334
HP:0005280	Depressed nasal bridge	8788	DLK1	ORPHA:254528
HP:0005280	Depressed nasal bridge	8788	DLK1	ORPHA:96184
HP:0005280	Depressed nasal bridge	8788	DLK1	ORPHA:96334
HP:0005280	Depressed nasal bridge	55384	MEG3	ORPHA:254528
HP:0005280	Depressed nasal bridge	55384	MEG3	ORPHA:96184
HP:0005280	Depressed nasal bridge	55384	MEG3	ORPHA:96334
HP:0005280	Depressed nasal bridge	57520	HECW2	OMIM:617268
HP:0005280	Depressed nasal bridge	6492	SIM1	ORPHA:171829
HP:0005280	Depressed nasal bridge	8312	AXIN1	OMIM:620558
HP:0005280	Depressed nasal bridge	6263	RYR3	OMIM:620310
HP:0005280	Depressed nasal bridge	9126	SMC3	OMIM:610759
HP:0005280	Depressed nasal bridge	9126	SMC3	ORPHA:199
HP:0005280	Depressed nasal bridge	56975	FAM20C	OMIM:259775
HP:0005280	Depressed nasal bridge	4763	NF1	OMIM:601321
HP:0005280	Depressed nasal bridge	4763	NF1	ORPHA:97685
HP:0005280	Depressed nasal bridge	83999	KREMEN1	OMIM:617392
HP:0005280	Depressed nasal bridge	4784	NFIX	OMIM:602535
HP:0005280	Depressed nasal bridge	4784	NFIX	ORPHA:420179
HP:0005280	Depressed nasal bridge	57551	TAOK1	OMIM:619575
HP:0005280	Depressed nasal bridge	4621	MYH3	OMIM:193700
HP:0005280	Depressed nasal bridge	23221	RHOBTB2	OMIM:618004
HP:0005280	Depressed nasal bridge	24140	FTSJ1	OMIM:309549
HP:0005280	Depressed nasal bridge	54496	PRMT7	OMIM:617157
HP:0005280	Depressed nasal bridge	8260	NAA10	OMIM:300855
HP:0005280	Depressed nasal bridge	7468	NSD2	OMIM:619695
HP:0005280	Depressed nasal bridge	166378	AFG2A	ORPHA:457351
HP:0005280	Depressed nasal bridge	10082	GPC6	OMIM:258315
HP:0005280	Depressed nasal bridge	10082	GPC6	ORPHA:93329
HP:0005280	Depressed nasal bridge	9820	CUL7	OMIM:273750
HP:0005280	Depressed nasal bridge	9719	ADAMTSL2	ORPHA:1901
HP:0005280	Depressed nasal bridge	9509	ADAMTS2	ORPHA:1901
HP:0005280	Depressed nasal bridge	23389	MED13L	ORPHA:369891
HP:0005280	Depressed nasal bridge	23389	MED13L	OMIM:616789
HP:0005280	Depressed nasal bridge	3265	HRAS	ORPHA:3071
HP:0005280	Depressed nasal bridge	3265	HRAS	OMIM:218040
HP:0005280	Depressed nasal bridge	6045	RNF2	OMIM:619460
HP:0005280	Depressed nasal bridge	29968	PSAT1	ORPHA:284417
HP:0005280	Depressed nasal bridge	7319	UBE2A	OMIM:300860
HP:0005280	Depressed nasal bridge	7319	UBE2A	ORPHA:163956
HP:0005280	Depressed nasal bridge	25942	SIN3A	ORPHA:94065
HP:0005280	Depressed nasal bridge	25942	SIN3A	OMIM:613406
HP:0005280	Depressed nasal bridge	9496	TBX4	ORPHA:261279
HP:0005280	Depressed nasal bridge	10524	KAT5	OMIM:619103
HP:0005280	Depressed nasal bridge	63931	MRPS14	OMIM:618378
HP:0005280	Depressed nasal bridge	22808	MRAS	OMIM:618499
HP:0005280	Depressed nasal bridge	23522	KAT6B	OMIM:603736
HP:0005280	Depressed nasal bridge	9451	EIF2AK3	OMIM:226980
HP:0005280	Depressed nasal bridge	54681	P4HTM	OMIM:618493
HP:0005280	Depressed nasal bridge	5277	PIGA	OMIM:300868
HP:0005280	Depressed nasal bridge	5144	PDE4D	ORPHA:439822
HP:0005280	Depressed nasal bridge	5144	PDE4D	ORPHA:950
HP:0005280	Depressed nasal bridge	5144	PDE4D	OMIM:614613
HP:0005280	Depressed nasal bridge	2475	MTOR	ORPHA:457485
HP:0005280	Depressed nasal bridge	2475	MTOR	OMIM:616638
HP:0005280	Depressed nasal bridge	23384	SPECC1L	OMIM:145420
HP:0005280	Depressed nasal bridge	5573	PRKAR1A	OMIM:101800
HP:0005280	Depressed nasal bridge	5573	PRKAR1A	ORPHA:950
HP:0005280	Depressed nasal bridge	9244	CRLF1	OMIM:272430
HP:0005280	Depressed nasal bridge	2737	GLI3	OMIM:146510
HP:0005280	Depressed nasal bridge	668	FOXL2	OMIM:110100
HP:0005280	Depressed nasal bridge	55605	KIF21A	ORPHA:994
HP:0005280	Depressed nasal bridge	4927	NUP88	ORPHA:994
HP:0005280	Depressed nasal bridge	7846	TUBA1A	ORPHA:994
HP:0005280	Depressed nasal bridge	4654	MYOD1	ORPHA:994
HP:0005280	Depressed nasal bridge	54551	MAGEL2	ORPHA:994
HP:0005280	Depressed nasal bridge	4593	MUSK	ORPHA:994
HP:0005280	Depressed nasal bridge	5913	RAPSN	ORPHA:994
HP:0005280	Depressed nasal bridge	6572	SLC18A3	ORPHA:994
HP:0005280	Depressed nasal bridge	285489	DOK7	ORPHA:994
HP:0005280	Depressed nasal bridge	9321	TRIP11	ORPHA:166272
HP:0005280	Depressed nasal bridge	9321	TRIP11	OMIM:200600
HP:0005280	Depressed nasal bridge	55975	KLHL7	OMIM:617055
HP:0005280	Depressed nasal bridge	2290	FOXG1	ORPHA:261144
HP:0005280	Depressed nasal bridge	2290	FOXG1	OMIM:613454
HP:0005280	Depressed nasal bridge	9851	KIAA0753	OMIM:619479
HP:0005280	Depressed nasal bridge	5977	DPF2	OMIM:618027
HP:0005280	Depressed nasal bridge	5977	DPF2	ORPHA:1465
HP:0005280	Depressed nasal bridge	10526	IPO8	OMIM:619472
HP:0005280	Depressed nasal bridge	348180	CTU2	OMIM:618142
HP:0005280	Depressed nasal bridge	92002	CCNQ	OMIM:300707
HP:0005280	Depressed nasal bridge	285590	SH3PXD2B	ORPHA:137834
HP:0005280	Depressed nasal bridge	285590	SH3PXD2B	OMIM:249420
HP:0005280	Depressed nasal bridge	6608	SMO	OMIM:241800
HP:0005280	Depressed nasal bridge	80036	TRPM3	OMIM:620224
HP:0005280	Depressed nasal bridge	1836	SLC26A2	ORPHA:628
HP:0005280	Depressed nasal bridge	1836	SLC26A2	OMIM:256050
HP:0005280	Depressed nasal bridge	4796	TONSL	OMIM:271510
HP:0005280	Depressed nasal bridge	4796	TONSL	ORPHA:93357
HP:0005280	Depressed nasal bridge	2317	FLNB	ORPHA:503
HP:0005280	Depressed nasal bridge	2317	FLNB	OMIM:108721
HP:0005280	Depressed nasal bridge	2317	FLNB	OMIM:108720
HP:0005280	Depressed nasal bridge	2317	FLNB	OMIM:150250
HP:0005280	Depressed nasal bridge	207	AKT1	ORPHA:744
HP:0005280	Depressed nasal bridge	207	AKT1	OMIM:176920
HP:0005280	Depressed nasal bridge	10060	ABCC9	OMIM:239850
HP:0005280	Depressed nasal bridge	23405	DICER1	OMIM:618272
HP:0005280	Depressed nasal bridge	7204	TRIO	OMIM:617061
HP:0005280	Depressed nasal bridge	5290	PIK3CA	OMIM:602501
HP:0005280	Depressed nasal bridge	5290	PIK3CA	ORPHA:60040
HP:0005280	Depressed nasal bridge	3636	INPPL1	OMIM:258480
HP:0005280	Depressed nasal bridge	3636	INPPL1	ORPHA:2746
HP:0005280	Depressed nasal bridge	2077	ERF	OMIM:617180
HP:0005280	Depressed nasal bridge	2077	ERF	OMIM:600775
HP:0005280	Depressed nasal bridge	2571	GAD1	OMIM:619124
HP:0005280	Depressed nasal bridge	2222	FDFT1	OMIM:618156
HP:0005280	Depressed nasal bridge	203068	TUBB	OMIM:156610
HP:0005280	Depressed nasal bridge	8567	MADD	OMIM:619005
HP:0005280	Depressed nasal bridge	51715	RAB23	OMIM:201000
HP:0005280	Depressed nasal bridge	8239	USP9X	OMIM:300968
HP:0005280	Depressed nasal bridge	8239	USP9X	ORPHA:480880
HP:0005280	Depressed nasal bridge	10651	MTX2	OMIM:619127
HP:0005280	Depressed nasal bridge	57477	SHROOM4	ORPHA:85288
HP:0005280	Depressed nasal bridge	64093	SMOC1	OMIM:206920
HP:0005280	Depressed nasal bridge	64093	SMOC1	ORPHA:1106
HP:0005280	Depressed nasal bridge	1028	CDKN1C	ORPHA:85173
HP:0005280	Depressed nasal bridge	1028	CDKN1C	OMIM:614732
HP:0005280	Depressed nasal bridge	5426	POLE	ORPHA:85173
HP:0005280	Depressed nasal bridge	2799	GNS	OMIM:252940
HP:0005280	Depressed nasal bridge	673	BRAF	OMIM:613707
HP:0005280	Depressed nasal bridge	673	BRAF	OMIM:613706
HP:0005280	Depressed nasal bridge	673	BRAF	OMIM:115150
HP:0005280	Depressed nasal bridge	673	BRAF	ORPHA:1340
HP:0005280	Depressed nasal bridge	9759	HDAC4	OMIM:600430
HP:0005280	Depressed nasal bridge	9759	HDAC4	ORPHA:1001
HP:0005280	Depressed nasal bridge	403	ARL3	OMIM:618161
HP:0005280	Depressed nasal bridge	4256	MGP	OMIM:245150
HP:0005280	Depressed nasal bridge	4256	MGP	ORPHA:85202
HP:0005280	Depressed nasal bridge	4081	MAB21L1	ORPHA:495875
HP:0005280	Depressed nasal bridge	89970	RSPRY1	ORPHA:457395
HP:0005280	Depressed nasal bridge	89970	RSPRY1	OMIM:616723
HP:0005280	Depressed nasal bridge	9487	PIGL	OMIM:280000
HP:0005280	Depressed nasal bridge	54187	NANS	OMIM:610442
HP:0005280	Depressed nasal bridge	5557	PRIM1	OMIM:620005
HP:0005280	Depressed nasal bridge	3295	HSD17B4	OMIM:261515
HP:0005280	Depressed nasal bridge	4683	NBN	ORPHA:647
HP:0005280	Depressed nasal bridge	84081	NSRP1	OMIM:620001
HP:0005280	Depressed nasal bridge	55901	THSD1	OMIM:620244
HP:0005280	Depressed nasal bridge	7474	WNT5A	OMIM:180700
HP:0005280	Depressed nasal bridge	7474	WNT5A	ORPHA:3107
HP:0005280	Depressed nasal bridge	4668	NAGA	OMIM:609242
HP:0005280	Depressed nasal bridge	4668	NAGA	ORPHA:79280
HP:0005280	Depressed nasal bridge	2801	GOLGA2	OMIM:620240
HP:0005280	Depressed nasal bridge	9897	WASHC5	ORPHA:7
HP:0005280	Depressed nasal bridge	9897	WASHC5	OMIM:220210
HP:0005280	Depressed nasal bridge	28952	CCDC22	ORPHA:7
HP:0005280	Depressed nasal bridge	57020	VPS35L	ORPHA:7
HP:0005280	Depressed nasal bridge	56896	DPYSL5	ORPHA:7
HP:0005280	Depressed nasal bridge	64802	NMNAT1	OMIM:619260
HP:0005280	Depressed nasal bridge	114034	TOE1	ORPHA:284339
HP:0005280	Depressed nasal bridge	9562	MINPP1	ORPHA:284339
HP:0005280	Depressed nasal bridge	51626	DYNC2LI1	OMIM:617088
HP:0005280	Depressed nasal bridge	27445	PCLO	OMIM:608027
HP:0005280	Depressed nasal bridge	8085	KMT2D	OMIM:147920
HP:0005280	Depressed nasal bridge	8085	KMT2D	OMIM:620186
HP:0005280	Depressed nasal bridge	7403	KDM6A	OMIM:147920
HP:0005280	Depressed nasal bridge	168667	BMPER	OMIM:608022
HP:0005280	Depressed nasal bridge	11198	SUPT16H	ORPHA:261229
HP:0005280	Depressed nasal bridge	57680	CHD8	ORPHA:261229
HP:0005280	Depressed nasal bridge	8450	CUL4B	OMIM:300354
HP:0005280	Depressed nasal bridge	9131	AIFM1	OMIM:300232
HP:0005280	Depressed nasal bridge	9131	AIFM1	ORPHA:83629
HP:0005280	Depressed nasal bridge	341640	FREM2	ORPHA:2052
HP:0005280	Depressed nasal bridge	80144	FRAS1	ORPHA:2052
HP:0005280	Depressed nasal bridge	80144	FRAS1	OMIM:219000
HP:0005280	Depressed nasal bridge	23426	GRIP1	ORPHA:2052
HP:0005280	Depressed nasal bridge	894	CCND2	ORPHA:83473
HP:0005280	Depressed nasal bridge	5296	PIK3R2	ORPHA:83473
HP:0005280	Depressed nasal bridge	10000	AKT3	ORPHA:83473
HP:0005280	Depressed nasal bridge	55503	TRPV6	OMIM:618188
HP:0005280	Depressed nasal bridge	652	BMP4	ORPHA:828
HP:0005280	Depressed nasal bridge	5894	RAF1	OMIM:611554
HP:0005280	Depressed nasal bridge	5894	RAF1	OMIM:611553
HP:0005280	Depressed nasal bridge	57539	WDR35	OMIM:613610
HP:0005280	Depressed nasal bridge	57539	WDR35	ORPHA:93271
HP:0005280	Depressed nasal bridge	145173	B3GLCT	ORPHA:709
HP:0005280	Depressed nasal bridge	128178	EDARADD	OMIM:614941
HP:0005280	Depressed nasal bridge	128178	EDARADD	OMIM:224900
HP:0005280	Depressed nasal bridge	2629	GBA1	OMIM:608013
HP:0005280	Depressed nasal bridge	2629	GBA1	ORPHA:85212
HP:0005280	Depressed nasal bridge	1299	COL9A3	OMIM:620022
HP:0005280	Depressed nasal bridge	5447	POR	ORPHA:95699
HP:0005280	Depressed nasal bridge	5447	POR	OMIM:201750
HP:0005280	Depressed nasal bridge	5447	POR	OMIM:207410
HP:0005280	Depressed nasal bridge	9401	RECQL4	OMIM:268400
HP:0005280	Depressed nasal bridge	55112	DYNC2I1	ORPHA:93271
HP:0005280	Depressed nasal bridge	55112	DYNC2I1	OMIM:615503
HP:0005280	Depressed nasal bridge	57560	IFT80	ORPHA:93271
HP:0005280	Depressed nasal bridge	79659	DYNC2H1	ORPHA:93271
HP:0005280	Depressed nasal bridge	89891	DYNC2I2	ORPHA:93271
HP:0005280	Depressed nasal bridge	80232	WDR26	ORPHA:513456
HP:0005280	Depressed nasal bridge	80232	WDR26	OMIM:617616
HP:0005280	Depressed nasal bridge	8443	GNPAT	OMIM:222765
HP:0005280	Depressed nasal bridge	89910	UBE3B	OMIM:244450
HP:0005280	Depressed nasal bridge	9442	MED27	OMIM:619286
HP:0005280	Depressed nasal bridge	80055	PGAP1	OMIM:615802
HP:0005280	Depressed nasal bridge	2314	FLII	ORPHA:819
HP:0005280	Depressed nasal bridge	23096	IQSEC2	ORPHA:819
HP:0005280	Depressed nasal bridge	10743	RAI1	ORPHA:819
HP:0005280	Depressed nasal bridge	10522	DEAF1	ORPHA:819
HP:0005280	Depressed nasal bridge	25782	RAB3GAP2	OMIM:212720
HP:0005280	Depressed nasal bridge	25782	RAB3GAP2	ORPHA:1387
HP:0005280	Depressed nasal bridge	10472	ZBTB18	ORPHA:36367
HP:0005280	Depressed nasal bridge	10472	ZBTB18	OMIM:612337
HP:0005280	Depressed nasal bridge	57492	ARID1B	OMIM:135900
HP:0005280	Depressed nasal bridge	57492	ARID1B	ORPHA:1465
HP:0005280	Depressed nasal bridge	64324	NSD1	OMIM:117550
HP:0005280	Depressed nasal bridge	50814	NSDHL	OMIM:308050
HP:0005280	Depressed nasal bridge	6499	SKIC2	OMIM:614602
HP:0005280	Depressed nasal bridge	8289	ARID1A	OMIM:614607
HP:0005280	Depressed nasal bridge	8289	ARID1A	ORPHA:1465
HP:0005280	Depressed nasal bridge	6598	SMARCB1	OMIM:614608
HP:0005280	Depressed nasal bridge	6598	SMARCB1	ORPHA:1465
HP:0005280	Depressed nasal bridge	6597	SMARCA4	OMIM:614609
HP:0005280	Depressed nasal bridge	6597	SMARCA4	ORPHA:1465
HP:0005280	Depressed nasal bridge	1717	DHCR7	OMIM:270400
HP:0005280	Depressed nasal bridge	4524	MTHFR	ORPHA:563612
HP:0005280	Depressed nasal bridge	57216	VANGL2	ORPHA:563612
HP:0005280	Depressed nasal bridge	860	RUNX2	OMIM:119600
HP:0005280	Depressed nasal bridge	860	RUNX2	ORPHA:1452
HP:0005280	Depressed nasal bridge	23036	ZNF292	OMIM:619188
HP:0005280	Depressed nasal bridge	10682	EBP	ORPHA:35173
HP:0005280	Depressed nasal bridge	4591	TRIM37	OMIM:253250
HP:0005280	Depressed nasal bridge	29128	UHRF1	ORPHA:2268
HP:0005280	Depressed nasal bridge	3070	HELLS	ORPHA:2268
HP:0005280	Depressed nasal bridge	3070	HELLS	OMIM:616911
HP:0005280	Depressed nasal bridge	83879	CDCA7	ORPHA:2268
HP:0005280	Depressed nasal bridge	83879	CDCA7	OMIM:616910
HP:0005280	Depressed nasal bridge	1954	MEGF8	OMIM:614976
HP:0005280	Depressed nasal bridge	84300	UQCC2	OMIM:615824
HP:0005280	Depressed nasal bridge	124512	METTL23	OMIM:615942
HP:0005280	Depressed nasal bridge	2752	GLUL	OMIM:610015
HP:0005280	Depressed nasal bridge	4036	LRP2	ORPHA:2143
HP:0005280	Depressed nasal bridge	4036	LRP2	OMIM:222448
HP:0005280	Depressed nasal bridge	657	BMPR1A	ORPHA:79076
HP:0005280	Depressed nasal bridge	3425	IDUA	OMIM:607014
HP:0005280	Depressed nasal bridge	3425	IDUA	OMIM:607016
HP:0005280	Depressed nasal bridge	3425	IDUA	OMIM:607015
HP:0005280	Depressed nasal bridge	3425	IDUA	ORPHA:93473
HP:0005280	Depressed nasal bridge	374654	KIF7	OMIM:607131
HP:0005280	Depressed nasal bridge	129563	DIS3L2	OMIM:267000
HP:0005280	Depressed nasal bridge	10801	SEPTIN9	OMIM:162100
HP:0005280	Depressed nasal bridge	5626	PROP1	ORPHA:226307
HP:0005280	Depressed nasal bridge	89884	LHX4	ORPHA:226307
HP:0005280	Depressed nasal bridge	8022	LHX3	ORPHA:226307
HP:0005280	Depressed nasal bridge	5449	POU1F1	ORPHA:226307
HP:0005280	Depressed nasal bridge	5449	POU1F1	OMIM:613038
HP:0005280	Depressed nasal bridge	8820	HESX1	ORPHA:226307
HP:0005280	Depressed nasal bridge	5190	PEX6	OMIM:614862
HP:0005280	Depressed nasal bridge	5190	PEX6	ORPHA:912
HP:0005280	Depressed nasal bridge	1857	DVL3	ORPHA:3107
HP:0005280	Depressed nasal bridge	1857	DVL3	OMIM:616894
HP:0005280	Depressed nasal bridge	2535	FZD2	ORPHA:3107
HP:0005280	Depressed nasal bridge	2535	FZD2	OMIM:164745
HP:0005280	Depressed nasal bridge	2535	FZD2	ORPHA:93328
HP:0005280	Depressed nasal bridge	9508	ADAMTS3	ORPHA:2136
HP:0005280	Depressed nasal bridge	147372	CCBE1	ORPHA:2136
HP:0005280	Depressed nasal bridge	147372	CCBE1	OMIM:235510
HP:0005280	Depressed nasal bridge	6660	SOX5	OMIM:616803
HP:0005280	Depressed nasal bridge	26053	AUTS2	OMIM:615834
HP:0005280	Depressed nasal bridge	3211	HOXB1	OMIM:614744
HP:0005280	Depressed nasal bridge	8626	TP63	OMIM:129400
HP:0005280	Depressed nasal bridge	23345	SYNE1	ORPHA:319332
HP:0005280	Depressed nasal bridge	11128	POLR3A	OMIM:264090
HP:0005280	Depressed nasal bridge	84992	PIGY	OMIM:616809
HP:0005280	Depressed nasal bridge	10236	HNRNPR	OMIM:620073
HP:0005280	Depressed nasal bridge	283209	PGM2L1	OMIM:620191
HP:0005280	Depressed nasal bridge	57459	GATAD2B	ORPHA:363686
HP:0005280	Depressed nasal bridge	2200	FBN1	OMIM:608328
HP:0005280	Depressed nasal bridge	4094	MAF	ORPHA:1272
HP:0005280	Depressed nasal bridge	4094	MAF	OMIM:601088
HP:0005280	Depressed nasal bridge	182	JAG1	OMIM:118450
HP:0005280	Depressed nasal bridge	6605	SMARCE1	OMIM:616938
HP:0005280	Depressed nasal bridge	6605	SMARCE1	ORPHA:1465
HP:0005280	Depressed nasal bridge	2006	ELN	OMIM:194050
HP:0005280	Depressed nasal bridge	51085	MLXIPL	OMIM:194050
HP:0005280	Depressed nasal bridge	3911	LAMA5	OMIM:620076
HP:0005280	Depressed nasal bridge	55343	SLC35C1	ORPHA:99843
HP:0005280	Depressed nasal bridge	10430	TMEM147	OMIM:620075
HP:0005280	Depressed nasal bridge	415	ARSL	OMIM:302950
HP:0005280	Depressed nasal bridge	9342	SNAP29	OMIM:609528
HP:0005280	Depressed nasal bridge	9968	MED12	OMIM:300895
HP:0005280	Depressed nasal bridge	546	ATRX	OMIM:309580
HP:0005280	Depressed nasal bridge	546	ATRX	OMIM:301040
HP:0005280	Depressed nasal bridge	22930	RAB3GAP1	ORPHA:1387
HP:0005280	Depressed nasal bridge	5194	PEX13	OMIM:614883
HP:0005280	Depressed nasal bridge	5194	PEX13	ORPHA:912
HP:0005280	Depressed nasal bridge	2146	EZH2	OMIM:277590
HP:0005280	Depressed nasal bridge	5195	PEX14	OMIM:614887
HP:0005280	Depressed nasal bridge	5195	PEX14	ORPHA:912
HP:0005280	Depressed nasal bridge	4882	NPR2	ORPHA:40
HP:0005280	Depressed nasal bridge	6509	SLC1A4	ORPHA:447997
HP:0005280	Depressed nasal bridge	701	BUB1B	OMIM:257300
HP:0005280	Depressed nasal bridge	117581	TWIST2	ORPHA:920
HP:0005280	Depressed nasal bridge	117581	TWIST2	OMIM:227260
HP:0005280	Depressed nasal bridge	7546	ZIC2	OMIM:609637
HP:0005280	Depressed nasal bridge	5631	PRPS1	OMIM:300661
HP:0005280	Depressed nasal bridge	91252	SLC39A13	OMIM:612350
HP:0005280	Depressed nasal bridge	2703	GJA8	OMIM:612474
HP:0005280	Depressed nasal bridge	2702	GJA5	OMIM:612474
HP:0005280	Depressed nasal bridge	867	CBL	OMIM:613563
HP:0005280	Depressed nasal bridge	51025	PAM16	OMIM:613320
HP:0005280	Depressed nasal bridge	4208	MEF2C	OMIM:613443
HP:0005280	Depressed nasal bridge	22907	DHX30	OMIM:617804
HP:0005280	Depressed nasal bridge	27152	INTU	OMIM:617925
HP:0005280	Depressed nasal bridge	51053	GMNN	OMIM:616835
HP:0005280	Depressed nasal bridge	7407	VARS1	OMIM:617802
HP:0005280	Depressed nasal bridge	10664	CTCF	OMIM:615502
HP:0005280	Depressed nasal bridge	2719	GPC3	OMIM:312870
HP:0005280	Depressed nasal bridge	2239	GPC4	OMIM:312870
HP:0005280	Depressed nasal bridge	2239	GPC4	ORPHA:2662
HP:0005280	Depressed nasal bridge	6664	SOX11	OMIM:615866
HP:0005280	Depressed nasal bridge	6664	SOX11	ORPHA:1465
HP:0005280	Depressed nasal bridge	196528	ARID2	OMIM:617808
HP:0005280	Depressed nasal bridge	196528	ARID2	ORPHA:1465
HP:0005280	Depressed nasal bridge	55670	PEX26	ORPHA:912
HP:0005280	Depressed nasal bridge	5824	PEX19	ORPHA:912
HP:0005280	Depressed nasal bridge	5828	PEX2	ORPHA:912
HP:0005280	Depressed nasal bridge	8504	PEX3	ORPHA:912
HP:0005280	Depressed nasal bridge	8799	PEX11B	ORPHA:912
HP:0005280	Depressed nasal bridge	9409	PEX16	ORPHA:912
HP:0005280	Depressed nasal bridge	5830	PEX5	ORPHA:912
HP:0005280	Depressed nasal bridge	5189	PEX1	ORPHA:912
HP:0005280	Depressed nasal bridge	5193	PEX12	ORPHA:912
HP:0005280	Depressed nasal bridge	5192	PEX10	ORPHA:912
HP:0005280	Depressed nasal bridge	8216	LZTR1	OMIM:605275
HP:0005280	Depressed nasal bridge	90417	KNSTRN	OMIM:613328
HP:0005280	Depressed nasal bridge	90417	KNSTRN	ORPHA:221139
HP:0005280	Depressed nasal bridge	5293	PIK3CD	OMIM:613328
HP:0005280	Depressed nasal bridge	5293	PIK3CD	ORPHA:221139
HP:0005280	Depressed nasal bridge	6888	TALDO1	OMIM:606003
HP:0005280	Depressed nasal bridge	3720	JARID2	OMIM:620098
HP:0005280	Depressed nasal bridge	4054	LTBP3	OMIM:617809
HP:0005280	Depressed nasal bridge	10075	HUWE1	OMIM:309590
HP:0005280	Depressed nasal bridge	5745	PTH1R	OMIM:215045
HP:0005280	Depressed nasal bridge	5745	PTH1R	ORPHA:50945
HP:0005280	Depressed nasal bridge	79650	USB1	OMIM:604173
HP:0005280	Depressed nasal bridge	411	ARSB	OMIM:253200
HP:0005280	Depressed nasal bridge	91179	SCARF2	OMIM:600920
HP:0005280	Depressed nasal bridge	5859	QARS1	OMIM:615760
HP:0005280	Depressed nasal bridge	84162	BLTP1	OMIM:617822
HP:0005280	Depressed nasal bridge	4893	NRAS	OMIM:613224
HP:0005280	Depressed nasal bridge	169792	GLIS3	OMIM:610199
HP:0005280	Depressed nasal bridge	30008	EFEMP2	OMIM:614437
HP:0005280	Depressed nasal bridge	79644	SRD5A3	OMIM:612379
HP:0005280	Depressed nasal bridge	10982	MAPRE2	OMIM:616734
HP:0005280	Depressed nasal bridge	2720	GLB1	ORPHA:79255
HP:0005280	Depressed nasal bridge	4750	NEK1	OMIM:252100
HP:0005280	Depressed nasal bridge	10735	STAG2	OMIM:301022
HP:0005280	Depressed nasal bridge	405753	DUOXA2	ORPHA:95716
HP:0005280	Depressed nasal bridge	6528	SLC5A5	ORPHA:95716
HP:0005280	Depressed nasal bridge	7038	TG	ORPHA:95716
HP:0005280	Depressed nasal bridge	7173	TPO	ORPHA:95716
HP:0005280	Depressed nasal bridge	389434	IYD	ORPHA:95716
HP:0005280	Depressed nasal bridge	50506	DUOX2	ORPHA:95716
HP:0005280	Depressed nasal bridge	6659	SOX4	ORPHA:1465
HP:0005280	Depressed nasal bridge	6601	SMARCC2	ORPHA:1465
HP:0005280	Depressed nasal bridge	134701	RIPPLY2	ORPHA:2311
HP:0005280	Depressed nasal bridge	10683	DLL3	ORPHA:2311
HP:0005280	Depressed nasal bridge	3955	LFNG	ORPHA:2311
HP:0005280	Depressed nasal bridge	84667	HES7	ORPHA:2311
HP:0005280	Depressed nasal bridge	145873	MESP2	ORPHA:2311
HP:0005280	Depressed nasal bridge	5604	MAP2K1	ORPHA:1340
HP:0005280	Depressed nasal bridge	5605	MAP2K2	ORPHA:1340
HP:0005280	Depressed nasal bridge	64131	XYLT1	OMIM:615777
HP:0005280	Depressed nasal bridge	64131	XYLT1	ORPHA:1425
HP:0005280	Depressed nasal bridge	57211	ADGRG6	OMIM:616503
HP:0005280	Depressed nasal bridge	2138	EYA1	ORPHA:2792
HP:0005280	Depressed nasal bridge	5075	PAX1	ORPHA:2792
HP:0005280	Depressed nasal bridge	1000	CDH2	OMIM:618929
HP:0005280	Depressed nasal bridge	176	ACAN	OMIM:165800
HP:0005280	Depressed nasal bridge	7050	TGIF1	OMIM:142946
HP:0005280	Depressed nasal bridge	6469	SHH	OMIM:142945
HP:0005280	Depressed nasal bridge	5422	POLA1	OMIM:301030
HP:0005280	Depressed nasal bridge	84342	COG8	OMIM:611182
HP:0005280	Depressed nasal bridge	84188	FAR1	ORPHA:438178
HP:0005280	Depressed nasal bridge	175	AGA	OMIM:208400
HP:0005280	Depressed nasal bridge	80781	COL18A1	ORPHA:1571
HP:0005280	Depressed nasal bridge	80781	COL18A1	OMIM:267750
HP:0005280	Depressed nasal bridge	5062	PAK2	ORPHA:1571
HP:0005280	Depressed nasal bridge	9419	CRIPT	OMIM:615789
HP:0005280	Depressed nasal bridge	57572	DOCK6	OMIM:614219
HP:0005280	Depressed nasal bridge	23476	BRD4	ORPHA:199
HP:0005280	Depressed nasal bridge	8243	SMC1A	ORPHA:199
HP:0005280	Depressed nasal bridge	6878	TAF6	ORPHA:199
HP:0005280	Depressed nasal bridge	5885	RAD21	ORPHA:199
HP:0005280	Depressed nasal bridge	9997	SCO2	OMIM:604377
HP:0005280	Depressed nasal bridge	6197	RPS6KA3	ORPHA:192
HP:0005280	Depressed nasal bridge	55180	LINS1	OMIM:614340
HP:0005280	Depressed nasal bridge	2517	FUCA1	OMIM:230000
HP:0005280	Depressed nasal bridge	29957	SLC25A24	OMIM:612289
HP:0005280	Depressed nasal bridge	4329	ALDH6A1	OMIM:614105
HP:0005280	Depressed nasal bridge	8405	SPOP	OMIM:618828
HP:0005280	Depressed nasal bridge	8405	SPOP	OMIM:618829
HP:0005280	Depressed nasal bridge	23630	KCNE5	ORPHA:86818
HP:0005280	Depressed nasal bridge	2182	ACSL4	ORPHA:86818
HP:0005280	Depressed nasal bridge	10913	EDAR	OMIM:224900
HP:0005280	Depressed nasal bridge	284252	KCTD1	OMIM:181270
HP:0005280	Depressed nasal bridge	1718	DHCR24	ORPHA:35107
HP:0005280	Depressed nasal bridge	9702	CEP57	OMIM:614114
HP:0005280	Depressed nasal bridge	57688	ZSWIM6	OMIM:617865
HP:0005280	Depressed nasal bridge	1806	DPYD	ORPHA:1675
HP:0005280	Depressed nasal bridge	4190	MDH1	OMIM:618959
HP:0005280	Depressed nasal bridge	54676	GTPBP2	OMIM:617988
HP:0005280	Depressed nasal bridge	5495	PPM1B	ORPHA:163693
HP:0005280	Depressed nasal bridge	6519	SLC3A1	ORPHA:163693
HP:0005280	Depressed nasal bridge	9581	PREPL	ORPHA:163693
HP:0005280	Depressed nasal bridge	79823	CAMKMT	ORPHA:163693
HP:0005280	Depressed nasal bridge	126792	B3GALT6	ORPHA:536467
HP:0005280	Depressed nasal bridge	5331	PLCB3	OMIM:618961
HP:0005280	Depressed nasal bridge	9320	TRIP12	OMIM:617752
HP:0005280	Depressed nasal bridge	158326	FREM1	OMIM:614485
HP:0005280	Depressed nasal bridge	178	AGL	OMIM:232400
HP:0005280	Depressed nasal bridge	51684	SUFU	OMIM:617757
HP:0005280	Depressed nasal bridge	10225	CD96	ORPHA:1308
HP:0005280	Depressed nasal bridge	10269	ZMPSTE24	OMIM:275210
HP:0005280	Depressed nasal bridge	5286	PIK3C2A	ORPHA:557003
HP:0005280	Depressed nasal bridge	9469	CHST3	OMIM:245600
HP:0005280	Depressed nasal bridge	26229	B3GAT3	OMIM:245600
HP:0005280	Depressed nasal bridge	4204	MECP2	OMIM:300260
HP:0005280	Depressed nasal bridge	5307	PITX1	OMIM:119800
HP:0005280	Depressed nasal bridge	3832	KIF11	OMIM:152950
HP:0005280	Depressed nasal bridge	92935	MARS2	OMIM:616430
HP:0005280	Depressed nasal bridge	7543	ZFX	OMIM:301118
HP:0005280	Depressed nasal bridge	10736	SIX2	ORPHA:488437
HP:0005280	Depressed nasal bridge	84148	KAT8	OMIM:618974
HP:0005280	Depressed nasal bridge	25871	NEPRO	OMIM:618853
HP:0005280	Depressed nasal bridge	6929	TCF3	OMIM:619824
HP:0005280	Depressed nasal bridge	2110	ETFDH	OMIM:231680
HP:0005280	Depressed nasal bridge	2108	ETFA	OMIM:231680
HP:0005280	Depressed nasal bridge	2109	ETFB	OMIM:231680
HP:0005280	Depressed nasal bridge	1278	COL1A2	ORPHA:1899
HP:0005280	Depressed nasal bridge	1277	COL1A1	ORPHA:1899
HP:0003191	Cleft ala nasi	64840	PORCN	OMIM:305600
HP:0003191	Cleft ala nasi	4621	MYH3	OMIM:193700
HP:0003191	Cleft ala nasi	341640	FREM2	ORPHA:2052
HP:0003191	Cleft ala nasi	80144	FRAS1	ORPHA:2052
HP:0003191	Cleft ala nasi	80144	FRAS1	OMIM:219000
HP:0003191	Cleft ala nasi	23426	GRIP1	ORPHA:2052
HP:0003191	Cleft ala nasi	60529	ALX4	OMIM:613451
HP:0004411	Deviated nasal septum	2033	EP300	OMIM:180849
HP:0004411	Deviated nasal septum	1387	CREBBP	OMIM:180849
HP:0004411	Deviated nasal septum	56915	EXOSC5	OMIM:619576
HP:0004411	Deviated nasal septum	4841	NONO	OMIM:300967
HP:0004411	Deviated nasal septum	5053	PAH	ORPHA:2209
HP:0004411	Deviated nasal septum	5290	PIK3CA	OMIM:606773
HP:0004411	Deviated nasal septum	2263	FGFR2	OMIM:123500
HP:0004411	Deviated nasal septum	4763	NF1	ORPHA:139474
HP:0004408	Abnormality of the sense of smell	27019	DNAI1	OMIM:244400
HP:0004408	Abnormality of the sense of smell	23347	SMCHD1	ORPHA:2250
HP:0004408	Abnormality of the sense of smell	23347	SMCHD1	OMIM:603457
HP:0004408	Abnormality of the sense of smell	128674	PROKR2	OMIM:244200
HP:0004408	Abnormality of the sense of smell	128674	PROKR2	ORPHA:3157
HP:0004408	Abnormality of the sense of smell	128674	PROKR2	ORPHA:478
HP:0004408	Abnormality of the sense of smell	2260	FGFR1	OMIM:147950
HP:0004408	Abnormality of the sense of smell	2260	FGFR1	ORPHA:3157
HP:0004408	Abnormality of the sense of smell	2260	FGFR1	ORPHA:478
HP:0004408	Abnormality of the sense of smell	6938	TCF12	OMIM:619718
HP:0004408	Abnormality of the sense of smell	4808	NHLH2	OMIM:619755
HP:0004408	Abnormality of the sense of smell	286	ANK1	ORPHA:251066
HP:0004408	Abnormality of the sense of smell	60675	PROK2	OMIM:610628
HP:0004408	Abnormality of the sense of smell	60675	PROK2	ORPHA:478
HP:0004408	Abnormality of the sense of smell	5191	PEX7	OMIM:266500
HP:0004408	Abnormality of the sense of smell	5191	PEX7	OMIM:614879
HP:0004408	Abnormality of the sense of smell	5191	PEX7	ORPHA:773
HP:0004408	Abnormality of the sense of smell	5264	PHYH	OMIM:266500
HP:0004408	Abnormality of the sense of smell	5264	PHYH	ORPHA:773
HP:0004408	Abnormality of the sense of smell	55636	CHD7	OMIM:612370
HP:0004408	Abnormality of the sense of smell	55636	CHD7	ORPHA:138
HP:0004408	Abnormality of the sense of smell	55636	CHD7	OMIM:214800
HP:0004408	Abnormality of the sense of smell	55636	CHD7	ORPHA:478
HP:0004408	Abnormality of the sense of smell	6335	SCN9A	OMIM:243000
HP:0004408	Abnormality of the sense of smell	6663	SOX10	OMIM:613266
HP:0004408	Abnormality of the sense of smell	6663	SOX10	OMIM:609136
HP:0004408	Abnormality of the sense of smell	6663	SOX10	OMIM:611584
HP:0004408	Abnormality of the sense of smell	6663	SOX10	ORPHA:478
HP:0004408	Abnormality of the sense of smell	2263	FGFR2	ORPHA:2363
HP:0004408	Abnormality of the sense of smell	2261	FGFR3	ORPHA:2363
HP:0004408	Abnormality of the sense of smell	2255	FGF10	ORPHA:2363
HP:0004408	Abnormality of the sense of smell	84634	KISS1R	OMIM:614837
HP:0004408	Abnormality of the sense of smell	23516	SLC39A14	OMIM:144755
HP:0004408	Abnormality of the sense of smell	26012	NSMF	OMIM:614838
HP:0004408	Abnormality of the sense of smell	6866	TAC3	OMIM:614839
HP:0004408	Abnormality of the sense of smell	415	ARSL	OMIM:302950
HP:0004408	Abnormality of the sense of smell	79625	NDNF	OMIM:618841
HP:0004408	Abnormality of the sense of smell	79625	NDNF	ORPHA:478
HP:0004408	Abnormality of the sense of smell	9394	HS6ST1	OMIM:614880
HP:0004408	Abnormality of the sense of smell	9394	HS6ST1	ORPHA:478
HP:0004408	Abnormality of the sense of smell	6469	SHH	OMIM:147250
HP:0004408	Abnormality of the sense of smell	3814	KISS1	OMIM:614842
HP:0004408	Abnormality of the sense of smell	2253	FGF8	OMIM:612702
HP:0004408	Abnormality of the sense of smell	2253	FGF8	ORPHA:478
HP:0004408	Abnormality of the sense of smell	23400	ATP13A2	OMIM:606693
HP:0004408	Abnormality of the sense of smell	3730	ANOS1	OMIM:308700
HP:0004408	Abnormality of the sense of smell	3730	ANOS1	ORPHA:478
HP:0004408	Abnormality of the sense of smell	54756	IL17RD	OMIM:615267
HP:0004408	Abnormality of the sense of smell	54756	IL17RD	ORPHA:478
HP:0004408	Abnormality of the sense of smell	109	ADCY3	OMIM:617885
HP:0004408	Abnormality of the sense of smell	10371	SEMA3A	OMIM:614897
HP:0004408	Abnormality of the sense of smell	10371	SEMA3A	ORPHA:478
HP:0004408	Abnormality of the sense of smell	6657	SOX2	ORPHA:3157
HP:0004408	Abnormality of the sense of smell	6658	SOX3	ORPHA:3157
HP:0004408	Abnormality of the sense of smell	9915	ARNT2	ORPHA:3157
HP:0004408	Abnormality of the sense of smell	8820	HESX1	ORPHA:3157
HP:0004408	Abnormality of the sense of smell	8820	HESX1	ORPHA:478
HP:0004408	Abnormality of the sense of smell	5015	OTX2	ORPHA:3157
HP:0004408	Abnormality of the sense of smell	9927	MFN2	OMIM:601152
HP:0004408	Abnormality of the sense of smell	23767	FLRT3	ORPHA:478
HP:0004408	Abnormality of the sense of smell	1630	DCC	ORPHA:478
HP:0004408	Abnormality of the sense of smell	6870	TACR3	ORPHA:478
HP:0004408	Abnormality of the sense of smell	3064	HTT	ORPHA:399
HP:0004408	Abnormality of the sense of smell	6515	SLC2A3	ORPHA:399
HP:0004408	Abnormality of the sense of smell	5727	PTCH1	ORPHA:377
HP:0004408	Abnormality of the sense of smell	8643	PTCH2	ORPHA:377
HP:0004408	Abnormality of the sense of smell	51684	SUFU	ORPHA:377
HP:0004408	Abnormality of the sense of smell	51684	SUFU	ORPHA:2495
HP:0004408	Abnormality of the sense of smell	5980	REV3L	ORPHA:570
HP:0004408	Abnormality of the sense of smell	23129	PLXND1	ORPHA:570
HP:0004408	Abnormality of the sense of smell	6662	SOX9	ORPHA:140
HP:0004408	Abnormality of the sense of smell	92482	BBIP1	ORPHA:110
HP:0004408	Abnormality of the sense of smell	80184	CEP290	ORPHA:110
HP:0004408	Abnormality of the sense of smell	11020	IFT27	ORPHA:110
HP:0004408	Abnormality of the sense of smell	582	BBS1	ORPHA:110
HP:0004408	Abnormality of the sense of smell	49855	SCAPER	ORPHA:110
HP:0004408	Abnormality of the sense of smell	4867	NPHP1	ORPHA:110
HP:0004408	Abnormality of the sense of smell	51057	WDPCP	ORPHA:110
HP:0004408	Abnormality of the sense of smell	132320	SCLT1	ORPHA:110
HP:0004408	Abnormality of the sense of smell	27241	BBS9	ORPHA:110
HP:0004408	Abnormality of the sense of smell	84984	CEP19	ORPHA:110
HP:0004408	Abnormality of the sense of smell	22954	TRIM32	ORPHA:110
HP:0004408	Abnormality of the sense of smell	54903	MKS1	ORPHA:110
HP:0004408	Abnormality of the sense of smell	79738	BBS10	ORPHA:110
HP:0004408	Abnormality of the sense of smell	123016	TTC8	ORPHA:110
HP:0004408	Abnormality of the sense of smell	26160	IFT172	ORPHA:110
HP:0004408	Abnormality of the sense of smell	583	BBS2	ORPHA:110
HP:0004408	Abnormality of the sense of smell	585	BBS4	ORPHA:110
HP:0004408	Abnormality of the sense of smell	8195	MKKS	ORPHA:110
HP:0004408	Abnormality of the sense of smell	54585	LZTFL1	ORPHA:110
HP:0004408	Abnormality of the sense of smell	55212	BBS7	ORPHA:110
HP:0004408	Abnormality of the sense of smell	166379	BBS12	ORPHA:110
HP:0004408	Abnormality of the sense of smell	10806	SDCCAG8	ORPHA:110
HP:0004408	Abnormality of the sense of smell	157657	CFAP418	ORPHA:110
HP:0004408	Abnormality of the sense of smell	84100	ARL6	ORPHA:110
HP:0004408	Abnormality of the sense of smell	129880	BBS5	ORPHA:110
HP:0004408	Abnormality of the sense of smell	80173	IFT74	ORPHA:110
HP:0004408	Abnormality of the sense of smell	538	ATP7A	ORPHA:198
HP:0004408	Abnormality of the sense of smell	3972	LHB	OMIM:228300
HP:0004408	Abnormality of the sense of smell	23312	DMXL2	OMIM:616113
HP:0004408	Abnormality of the sense of smell	285025	CCDC141	OMIM:146110
HP:0004408	Abnormality of the sense of smell	9723	SEMA3E	OMIM:146110
HP:0004408	Abnormality of the sense of smell	10011	SRA1	OMIM:146110
HP:0004408	Abnormality of the sense of smell	2796	GNRH1	OMIM:146110
HP:0004408	Abnormality of the sense of smell	81848	SPRY4	OMIM:146110
HP:0004408	Abnormality of the sense of smell	389549	FEZF1	OMIM:146110
HP:0004408	Abnormality of the sense of smell	55717	WDR11	OMIM:146110
HP:0004408	Abnormality of the sense of smell	8822	FGF17	OMIM:146110
HP:0004408	Abnormality of the sense of smell	558	AXL	OMIM:146110
HP:0004408	Abnormality of the sense of smell	1848	DUSP6	OMIM:146110
HP:0004408	Abnormality of the sense of smell	2798	GNRHR	OMIM:146110
HP:0004408	Abnormality of the sense of smell	219844	HYLS1	ORPHA:2189
HP:0004408	Abnormality of the sense of smell	374654	KIF7	ORPHA:2189
HP:0004408	Abnormality of the sense of smell	8314	BAP1	ORPHA:2495
HP:0004408	Abnormality of the sense of smell	4771	NF2	ORPHA:2495
HP:0004408	Abnormality of the sense of smell	6598	SMARCB1	ORPHA:2495
HP:0004408	Abnormality of the sense of smell	5155	PDGFB	ORPHA:2495
HP:0004408	Abnormality of the sense of smell	84231	TRAF7	ORPHA:2495
HP:0004408	Abnormality of the sense of smell	6608	SMO	ORPHA:2495
HP:0004408	Abnormality of the sense of smell	207	AKT1	ORPHA:2495
HP:0004408	Abnormality of the sense of smell	5290	PIK3CA	ORPHA:2495
HP:0004408	Abnormality of the sense of smell	7015	TERT	ORPHA:2495
HP:0004408	Abnormality of the sense of smell	6605	SMARCE1	ORPHA:2495
HP:0004408	Abnormality of the sense of smell	2488	FSHB	OMIM:229070
HP:0004408	Abnormality of the sense of smell	10194	TSHZ1	OMIM:607842
HP:0004408	Abnormality of the sense of smell	120892	LRRK2	OMIM:607060
HP:0004408	Abnormality of the sense of smell	120892	LRRK2	ORPHA:411602
HP:0004408	Abnormality of the sense of smell	120892	LRRK2	ORPHA:2828
HP:0004408	Abnormality of the sense of smell	59335	PRDM12	OMIM:616488
HP:0004408	Abnormality of the sense of smell	2629	GBA1	ORPHA:411602
HP:0004408	Abnormality of the sense of smell	23317	DNAJC13	ORPHA:411602
HP:0004408	Abnormality of the sense of smell	1981	EIF4G1	ORPHA:411602
HP:0004408	Abnormality of the sense of smell	55737	VPS35	ORPHA:411602
HP:0004408	Abnormality of the sense of smell	26058	GIGYF2	ORPHA:411602
HP:0004408	Abnormality of the sense of smell	6622	SNCA	ORPHA:411602
HP:0004408	Abnormality of the sense of smell	6622	SNCA	ORPHA:2828
HP:0004408	Abnormality of the sense of smell	5781	PTPN11	OMIM:151100
HP:0004408	Abnormality of the sense of smell	1656	DDX6	OMIM:618653
HP:0004408	Abnormality of the sense of smell	54832	VPS13C	ORPHA:2828
HP:0004408	Abnormality of the sense of smell	11315	PARK7	ORPHA:2828
HP:0004408	Abnormality of the sense of smell	7345	UCHL1	ORPHA:2828
HP:0004408	Abnormality of the sense of smell	27429	HTRA2	ORPHA:2828
HP:0004408	Abnormality of the sense of smell	9829	DNAJC6	ORPHA:2828
HP:0004408	Abnormality of the sense of smell	5420	PODXL	ORPHA:2828
HP:0004408	Abnormality of the sense of smell	65018	PINK1	ORPHA:2828
HP:0004408	Abnormality of the sense of smell	8867	SYNJ1	ORPHA:2828
HP:0004408	Abnormality of the sense of smell	5071	PRKN	ORPHA:2828
HP:0004408	Abnormality of the sense of smell	6342	SCP2	OMIM:613724
HP:0004408	Abnormality of the sense of smell	540	ATP7B	OMIM:277900
HP:0004408	Abnormality of the sense of smell	9211	LGI1	OMIM:600512
HP:0004408	Abnormality of the sense of smell	5649	RELN	OMIM:600512
HP:0004408	Abnormality of the sense of smell	64780	MICAL1	OMIM:600512
HP:0004408	Abnormality of the sense of smell	9881	TRANK1	ORPHA:33543
HP:0004409	Hyposmia	10194	TSHZ1	OMIM:607842
HP:0004409	Hyposmia	23347	SMCHD1	ORPHA:2250
HP:0004409	Hyposmia	23767	FLRT3	OMIM:615271
HP:0004409	Hyposmia	23767	FLRT3	ORPHA:478
HP:0004409	Hyposmia	128674	PROKR2	OMIM:244200
HP:0004409	Hyposmia	128674	PROKR2	ORPHA:478
HP:0004409	Hyposmia	11020	IFT27	OMIM:615996
HP:0004409	Hyposmia	120892	LRRK2	OMIM:607060
HP:0004409	Hyposmia	120892	LRRK2	ORPHA:411602
HP:0004409	Hyposmia	120892	LRRK2	ORPHA:2828
HP:0004409	Hyposmia	2260	FGFR1	OMIM:147950
HP:0004409	Hyposmia	2260	FGFR1	ORPHA:478
HP:0004409	Hyposmia	59335	PRDM12	OMIM:616488
HP:0004409	Hyposmia	54585	LZTFL1	OMIM:615994
HP:0004409	Hyposmia	2629	GBA1	ORPHA:411602
HP:0004409	Hyposmia	23317	DNAJC13	ORPHA:411602
HP:0004409	Hyposmia	1981	EIF4G1	ORPHA:411602
HP:0004409	Hyposmia	55737	VPS35	ORPHA:411602
HP:0004409	Hyposmia	26058	GIGYF2	ORPHA:411602
HP:0004409	Hyposmia	6622	SNCA	ORPHA:411602
HP:0004409	Hyposmia	6622	SNCA	ORPHA:2828
HP:0004409	Hyposmia	2253	FGF8	OMIM:612702
HP:0004409	Hyposmia	2253	FGF8	ORPHA:478
HP:0004409	Hyposmia	80184	CEP290	OMIM:611755
HP:0004409	Hyposmia	60675	PROK2	OMIM:610628
HP:0004409	Hyposmia	60675	PROK2	ORPHA:478
HP:0004409	Hyposmia	23400	ATP13A2	OMIM:606693
HP:0004409	Hyposmia	3730	ANOS1	OMIM:308700
HP:0004409	Hyposmia	3730	ANOS1	ORPHA:478
HP:0004409	Hyposmia	5781	PTPN11	OMIM:151100
HP:0004409	Hyposmia	1656	DDX6	OMIM:618653
HP:0004409	Hyposmia	81848	SPRY4	OMIM:615266
HP:0004409	Hyposmia	81848	SPRY4	ORPHA:478
HP:0004409	Hyposmia	6335	SCN9A	OMIM:243000
HP:0004409	Hyposmia	109	ADCY3	OMIM:617885
HP:0004409	Hyposmia	10371	SEMA3A	OMIM:614897
HP:0004409	Hyposmia	10371	SEMA3A	ORPHA:478
HP:0004409	Hyposmia	54832	VPS13C	ORPHA:2828
HP:0004409	Hyposmia	11315	PARK7	ORPHA:2828
HP:0004409	Hyposmia	7345	UCHL1	ORPHA:2828
HP:0004409	Hyposmia	27429	HTRA2	ORPHA:2828
HP:0004409	Hyposmia	9829	DNAJC6	ORPHA:2828
HP:0004409	Hyposmia	5420	PODXL	ORPHA:2828
HP:0004409	Hyposmia	65018	PINK1	ORPHA:2828
HP:0004409	Hyposmia	8867	SYNJ1	ORPHA:2828
HP:0004409	Hyposmia	5071	PRKN	ORPHA:2828
HP:0004409	Hyposmia	6342	SCP2	OMIM:613724
HP:0004409	Hyposmia	23516	SLC39A14	OMIM:144755
HP:0004409	Hyposmia	26012	NSMF	OMIM:614838
HP:0004409	Hyposmia	540	ATP7B	OMIM:277900
HP:0004409	Hyposmia	79625	NDNF	ORPHA:478
HP:0004409	Hyposmia	389549	FEZF1	ORPHA:478
HP:0004409	Hyposmia	1630	DCC	ORPHA:478
HP:0004409	Hyposmia	54756	IL17RD	ORPHA:478
HP:0004409	Hyposmia	6663	SOX10	ORPHA:478
HP:0004409	Hyposmia	285025	CCDC141	ORPHA:478
HP:0004409	Hyposmia	55636	CHD7	ORPHA:478
HP:0004409	Hyposmia	1848	DUSP6	ORPHA:478
HP:0004409	Hyposmia	6870	TACR3	ORPHA:478
HP:0004409	Hyposmia	55717	WDR11	ORPHA:478
HP:0004409	Hyposmia	9394	HS6ST1	ORPHA:478
HP:0004409	Hyposmia	8820	HESX1	ORPHA:478
HP:0004409	Hyposmia	8822	FGF17	ORPHA:478
HP:0004407	Bony paranasal bossing	2697	GJA1	OMIM:218400
HP:0004407	Bony paranasal bossing	56172	ANKH	OMIM:123000
HP:0004406	Spontaneous, recurrent epistaxis	94	ACVRL1	OMIM:600376
HP:0004406	Spontaneous, recurrent epistaxis	94	ACVRL1	ORPHA:774
HP:0004406	Spontaneous, recurrent epistaxis	2658	GDF2	ORPHA:774
HP:0004406	Spontaneous, recurrent epistaxis	2658	GDF2	OMIM:615506
HP:0004406	Spontaneous, recurrent epistaxis	4089	SMAD4	ORPHA:774
HP:0004406	Spontaneous, recurrent epistaxis	2022	ENG	ORPHA:774
HP:0004406	Spontaneous, recurrent epistaxis	2022	ENG	OMIM:187300
HP:0004406	Spontaneous, recurrent epistaxis	2811	GP1BA	ORPHA:274
HP:0004406	Spontaneous, recurrent epistaxis	2812	GP1BB	ORPHA:274
HP:0004406	Spontaneous, recurrent epistaxis	2815	GP9	ORPHA:274
HP:0004406	Spontaneous, recurrent epistaxis	84343	HPS3	OMIM:614072
HP:0004406	Spontaneous, recurrent epistaxis	2629	GBA1	ORPHA:2072
HP:0004406	Spontaneous, recurrent epistaxis	10020	GNE	OMIM:620757
HP:0004406	Spontaneous, recurrent epistaxis	3674	ITGA2B	ORPHA:849
HP:0004406	Spontaneous, recurrent epistaxis	3690	ITGB3	ORPHA:849
HP:0004406	Spontaneous, recurrent epistaxis	4627	MYH9	ORPHA:182050
HP:0004406	Spontaneous, recurrent epistaxis	1130	LYST	OMIM:214500
HP:0004406	Spontaneous, recurrent epistaxis	6714	SRC	OMIM:616937
HP:0004406	Spontaneous, recurrent epistaxis	7171	TPM4	OMIM:620486
HP:0004406	Spontaneous, recurrent epistaxis	5795	PTPRJ	OMIM:620484
HP:0004405	Prominent nipples	3643	INSR	ORPHA:508
HP:0004405	Prominent nipples	3643	INSR	OMIM:246200
HP:0004405	Prominent nipples	25782	RAB3GAP2	OMIM:212720
HP:0004404	Abnormal nipple morphology	23476	BRD4	ORPHA:199
HP:0004404	Abnormal nipple morphology	9126	SMC3	ORPHA:199
HP:0004404	Abnormal nipple morphology	8243	SMC1A	ORPHA:199
HP:0004404	Abnormal nipple morphology	6878	TAF6	ORPHA:199
HP:0004404	Abnormal nipple morphology	25836	NIPBL	ORPHA:199
HP:0004404	Abnormal nipple morphology	25836	NIPBL	OMIM:122470
HP:0004404	Abnormal nipple morphology	55869	HDAC8	ORPHA:199
HP:0004404	Abnormal nipple morphology	5885	RAD21	ORPHA:199
HP:0004404	Abnormal nipple morphology	57003	CCDC47	OMIM:618268
HP:0004404	Abnormal nipple morphology	5792	PTPRF	OMIM:616001
HP:0004404	Abnormal nipple morphology	23135	KDM6B	OMIM:618505
HP:0004404	Abnormal nipple morphology	29957	SLC25A24	OMIM:612289
HP:0004404	Abnormal nipple morphology	8239	USP9X	ORPHA:480880
HP:0004404	Abnormal nipple morphology	5828	PEX2	OMIM:614866
HP:0004404	Abnormal nipple morphology	128178	EDARADD	OMIM:614941
HP:0004404	Abnormal nipple morphology	8085	KMT2D	OMIM:620186
HP:0004404	Abnormal nipple morphology	8085	KMT2D	OMIM:147920
HP:0004404	Abnormal nipple morphology	197131	UBR1	OMIM:243800
HP:0004404	Abnormal nipple morphology	203068	TUBB	OMIM:156610
HP:0004404	Abnormal nipple morphology	1146	CHRNG	OMIM:265000
HP:0004404	Abnormal nipple morphology	1896	EDA	OMIM:305100
HP:0004404	Abnormal nipple morphology	56992	KIF15	ORPHA:261323
HP:0004404	Abnormal nipple morphology	10020	GNE	OMIM:269921
HP:0004404	Abnormal nipple morphology	84168	ANTXR1	OMIM:230740
HP:0004404	Abnormal nipple morphology	7476	WNT7A	OMIM:276820
HP:0004404	Abnormal nipple morphology	3858	KRT10	OMIM:609165
HP:0004404	Abnormal nipple morphology	79633	FAT4	OMIM:615546
HP:0004404	Abnormal nipple morphology	26040	SETBP1	OMIM:269150
HP:0004404	Abnormal nipple morphology	7403	KDM6A	OMIM:147920
HP:0004404	Abnormal nipple morphology	9653	HS2ST1	OMIM:619194
HP:0004404	Abnormal nipple morphology	64840	PORCN	OMIM:305600
HP:0004404	Abnormal nipple morphology	10771	ZMYND11	OMIM:616083
HP:0004404	Abnormal nipple morphology	8294	H4C9	OMIM:619951
HP:0004404	Abnormal nipple morphology	10765	KDM5B	OMIM:618109
HP:0004404	Abnormal nipple morphology	5648	MASP1	OMIM:257920
HP:0004404	Abnormal nipple morphology	5648	MASP1	ORPHA:293843
HP:0004404	Abnormal nipple morphology	10054	UBA2	OMIM:619959
HP:0004404	Abnormal nipple morphology	57514	ARHGAP31	OMIM:100300
HP:0004404	Abnormal nipple morphology	60	ACTB	ORPHA:64755
HP:0004404	Abnormal nipple morphology	9759	HDAC4	ORPHA:1001
HP:0004404	Abnormal nipple morphology	4191	MDH2	OMIM:617339
HP:0004404	Abnormal nipple morphology	8626	TP63	OMIM:129400
HP:0004404	Abnormal nipple morphology	8626	TP63	OMIM:106260
HP:0004404	Abnormal nipple morphology	23028	KDM1A	OMIM:616728
HP:0004404	Abnormal nipple morphology	23028	KDM1A	ORPHA:477993
HP:0004404	Abnormal nipple morphology	54499	TMCO1	OMIM:213980
HP:0004404	Abnormal nipple morphology	9839	ZEB2	OMIM:235730
HP:0004404	Abnormal nipple morphology	6925	TCF4	ORPHA:2896
HP:0004404	Abnormal nipple morphology	6925	TCF4	OMIM:610954
HP:0004404	Abnormal nipple morphology	8517	IKBKG	ORPHA:464
HP:0004404	Abnormal nipple morphology	8517	IKBKG	OMIM:308300
HP:0004404	Abnormal nipple morphology	3190	HNRNPK	ORPHA:453504
HP:0004404	Abnormal nipple morphology	3190	HNRNPK	OMIM:616580
HP:0004404	Abnormal nipple morphology	3190	HNRNPK	ORPHA:352665
HP:0004404	Abnormal nipple morphology	79848	CSPP1	ORPHA:397715
HP:0004404	Abnormal nipple morphology	9786	KIAA0586	ORPHA:397715
HP:0004404	Abnormal nipple morphology	80816	ASXL3	OMIM:615485
HP:0004404	Abnormal nipple morphology	23112	TNRC6B	OMIM:619243
HP:0004404	Abnormal nipple morphology	10220	GDF11	OMIM:619122
HP:0004404	Abnormal nipple morphology	1723	DHODH	OMIM:263750
HP:0004404	Abnormal nipple morphology	1723	DHODH	ORPHA:246
HP:0004404	Abnormal nipple morphology	283489	CHAMP1	OMIM:616579
HP:0004404	Abnormal nipple morphology	150468	CKAP2L	ORPHA:3255
HP:0004404	Abnormal nipple morphology	4841	NONO	ORPHA:466791
HP:0004404	Abnormal nipple morphology	2239	GPC4	ORPHA:373
HP:0004404	Abnormal nipple morphology	2239	GPC4	OMIM:312870
HP:0004404	Abnormal nipple morphology	2719	GPC3	ORPHA:373
HP:0004404	Abnormal nipple morphology	2719	GPC3	OMIM:312870
HP:0004404	Abnormal nipple morphology	84992	PIGY	ORPHA:247262
HP:0004404	Abnormal nipple morphology	84720	PIGO	ORPHA:247262
HP:0004404	Abnormal nipple morphology	93210	PGAP3	ORPHA:247262
HP:0004404	Abnormal nipple morphology	284098	PIGW	ORPHA:247262
HP:0004404	Abnormal nipple morphology	27315	PGAP2	ORPHA:247262
HP:0004404	Abnormal nipple morphology	55650	PIGV	ORPHA:247262
HP:0004404	Abnormal nipple morphology	9487	PIGL	ORPHA:247262
HP:0004404	Abnormal nipple morphology	5528	PPP2R5D	ORPHA:457279
HP:0004404	Abnormal nipple morphology	10274	STAG1	OMIM:617635
HP:0004404	Abnormal nipple morphology	7021	TFAP2B	ORPHA:46627
HP:0004404	Abnormal nipple morphology	10584	COLEC10	ORPHA:293843
HP:0004404	Abnormal nipple morphology	78989	COLEC11	ORPHA:293843
HP:0004404	Abnormal nipple morphology	1000	CDH2	OMIM:618929
HP:0004404	Abnormal nipple morphology	7020	TFAP2A	OMIM:113620
HP:0004404	Abnormal nipple morphology	171023	ASXL1	OMIM:605039
HP:0004404	Abnormal nipple morphology	3845	KRAS	OMIM:600268
HP:0004404	Abnormal nipple morphology	54476	RNF216	ORPHA:1173
HP:0004404	Abnormal nipple morphology	10908	PNPLA6	ORPHA:1173
HP:0004404	Abnormal nipple morphology	8295	TRRAP	OMIM:618454
HP:0004404	Abnormal nipple morphology	1656	DDX6	OMIM:618653
HP:0004404	Abnormal nipple morphology	57728	WDR19	OMIM:614376
HP:0004404	Abnormal nipple morphology	1954	MEGF8	OMIM:614976
HP:0004404	Abnormal nipple morphology	3720	JARID2	OMIM:620098
HP:0004404	Abnormal nipple morphology	1009	CDH11	ORPHA:1299
HP:0004404	Abnormal nipple morphology	7994	KAT6A	OMIM:616268
HP:0004404	Abnormal nipple morphology	404672	GTF2H5	ORPHA:33364
HP:0004404	Abnormal nipple morphology	833	CARS1	ORPHA:33364
HP:0004404	Abnormal nipple morphology	2068	ERCC2	ORPHA:33364
HP:0004404	Abnormal nipple morphology	7737	RNF113A	ORPHA:33364
HP:0004404	Abnormal nipple morphology	136647	MPLKIP	ORPHA:33364
HP:0004404	Abnormal nipple morphology	6897	TARS1	ORPHA:33364
HP:0004404	Abnormal nipple morphology	16	AARS1	ORPHA:33364
HP:0004404	Abnormal nipple morphology	2071	ERCC3	ORPHA:33364
HP:0004404	Abnormal nipple morphology	2961	GTF2E2	ORPHA:33364
HP:0004404	Abnormal nipple morphology	3020	H3-3A	OMIM:619720
HP:0004404	Abnormal nipple morphology	1798	DPAGT1	ORPHA:86309
HP:0004404	Abnormal nipple morphology	1798	DPAGT1	OMIM:608093
HP:0004404	Abnormal nipple morphology	91949	COG7	OMIM:608779
HP:0004404	Abnormal nipple morphology	8504	PEX3	OMIM:617370
HP:0004404	Abnormal nipple morphology	11253	MAN1B1	ORPHA:397941
HP:0004404	Abnormal nipple morphology	11253	MAN1B1	OMIM:614202
HP:0004404	Abnormal nipple morphology	253738	EBF3	OMIM:617330
HP:0004404	Abnormal nipple morphology	51604	PIGT	OMIM:615398
HP:0004404	Abnormal nipple morphology	51604	PIGT	ORPHA:369837
HP:0004404	Abnormal nipple morphology	117581	TWIST2	OMIM:209885
HP:0004404	Abnormal nipple morphology	57282	SLC4A10	OMIM:620746
HP:0004404	Abnormal nipple morphology	7355	SLC35A2	ORPHA:356961
HP:0004404	Abnormal nipple morphology	775	CACNA1C	OMIM:620029
HP:0004404	Abnormal nipple morphology	6418	SET	OMIM:618106
HP:0004404	Abnormal nipple morphology	3703	STT3A	OMIM:619714
HP:0004404	Abnormal nipple morphology	79796	ALG9	OMIM:608776
HP:0004404	Abnormal nipple morphology	79796	ALG9	ORPHA:79328
HP:0004404	Abnormal nipple morphology	8936	WASF1	OMIM:618707
HP:0004404	Abnormal nipple morphology	4784	NFIX	ORPHA:447980
HP:0004404	Abnormal nipple morphology	4247	MGAT2	ORPHA:79329
HP:0004404	Abnormal nipple morphology	440138	ALG11	ORPHA:280071
HP:0004404	Abnormal nipple morphology	440138	ALG11	OMIM:613661
HP:0004404	Abnormal nipple morphology	29998	BICRA	OMIM:619325
HP:0004404	Abnormal nipple morphology	6942	TCF20	OMIM:618430
HP:0004404	Abnormal nipple morphology	473	RERE	OMIM:616975
HP:0004404	Abnormal nipple morphology	79644	SRD5A3	OMIM:612379
HP:0004404	Abnormal nipple morphology	91869	RFT1	OMIM:612015
HP:0004404	Abnormal nipple morphology	91869	RFT1	ORPHA:244310
HP:0004404	Abnormal nipple morphology	388015	RTL1	ORPHA:96334
HP:0004404	Abnormal nipple morphology	8788	DLK1	ORPHA:96334
HP:0004404	Abnormal nipple morphology	55384	MEG3	ORPHA:96334
HP:0004404	Abnormal nipple morphology	2683	B4GALT1	ORPHA:79332
HP:0004404	Abnormal nipple morphology	51	ACOX1	OMIM:264470
HP:0004404	Abnormal nipple morphology	5373	PMM2	ORPHA:79318
HP:0004404	Abnormal nipple morphology	5373	PMM2	OMIM:212065
HP:0004404	Abnormal nipple morphology	54888	NSUN2	OMIM:611091
HP:0004404	Abnormal nipple morphology	85365	ALG2	OMIM:607906
HP:0004404	Abnormal nipple morphology	84231	TRAF7	OMIM:618164
HP:0004404	Abnormal nipple morphology	50619	DEF6	OMIM:619573
HP:0004404	Abnormal nipple morphology	91137	SLC25A46	OMIM:616505
HP:0004404	Abnormal nipple morphology	2146	EZH2	OMIM:277590
HP:0004404	Abnormal nipple morphology	9757	KMT2B	OMIM:619934
HP:0004404	Abnormal nipple morphology	51322	WAC	OMIM:616708
HP:0004404	Abnormal nipple morphology	51322	WAC	ORPHA:466950
HP:0004404	Abnormal nipple morphology	10195	ALG3	ORPHA:79321
HP:0004404	Abnormal nipple morphology	8813	DPM1	ORPHA:79322
HP:0004404	Abnormal nipple morphology	79087	ALG12	ORPHA:79324
HP:0004404	Abnormal nipple morphology	79087	ALG12	OMIM:607143
HP:0004404	Abnormal nipple morphology	79053	ALG8	ORPHA:79325
HP:0004404	Abnormal nipple morphology	6926	TBX3	OMIM:181450
HP:0004404	Abnormal nipple morphology	55553	SOX6	OMIM:618971
HP:0004404	Abnormal nipple morphology	497661	C18orf32	OMIM:619985
HP:0004404	Abnormal nipple morphology	1822	ATN1	OMIM:618494
HP:0004404	Abnormal nipple morphology	3930	LBR	OMIM:618019
HP:0004404	Abnormal nipple morphology	1974	EIF4A2	OMIM:620455
HP:0004404	Abnormal nipple morphology	26834	RNU4-2	OMIM:620851
HP:0004404	Abnormal nipple morphology	27152	INTU	OMIM:617926
HP:0004404	Abnormal nipple morphology	3643	INSR	ORPHA:508
HP:0004404	Abnormal nipple morphology	3643	INSR	OMIM:246200
HP:0004404	Abnormal nipple morphology	25782	RAB3GAP2	OMIM:212720
HP:0004404	Abnormal nipple morphology	3480	IGF1R	ORPHA:73273
HP:0004404	Abnormal nipple morphology	3480	IGF1R	OMIM:270450
HP:0004404	Abnormal nipple morphology	9949	AMMECR1	OMIM:300990
HP:0004404	Abnormal nipple morphology	2260	FGFR1	ORPHA:432
HP:0004404	Abnormal nipple morphology	81848	SPRY4	ORPHA:432
HP:0004404	Abnormal nipple morphology	128674	PROKR2	ORPHA:432
HP:0004404	Abnormal nipple morphology	2253	FGF8	ORPHA:432
HP:0004404	Abnormal nipple morphology	60675	PROK2	ORPHA:432
HP:0004404	Abnormal nipple morphology	55636	CHD7	ORPHA:432
HP:0004404	Abnormal nipple morphology	6870	TACR3	ORPHA:432
HP:0004404	Abnormal nipple morphology	1848	DUSP6	ORPHA:432
HP:0004404	Abnormal nipple morphology	26012	NSMF	ORPHA:432
HP:0004404	Abnormal nipple morphology	55717	WDR11	ORPHA:432
HP:0004404	Abnormal nipple morphology	4808	NHLH2	ORPHA:432
HP:0004404	Abnormal nipple morphology	9394	HS6ST1	ORPHA:432
HP:0004404	Abnormal nipple morphology	2796	GNRH1	ORPHA:432
HP:0004404	Abnormal nipple morphology	2798	GNRHR	ORPHA:432
HP:0004404	Abnormal nipple morphology	84634	KISS1R	ORPHA:432
HP:0004404	Abnormal nipple morphology	6866	TAC3	ORPHA:432
HP:0004404	Abnormal nipple morphology	8822	FGF17	ORPHA:432
HP:0004404	Abnormal nipple morphology	3814	KISS1	ORPHA:432
HP:0004404	Abnormal nipple morphology	55906	ZC4H2	OMIM:301041
HP:0004404	Abnormal nipple morphology	23394	ADNP	ORPHA:404448
HP:0004404	Abnormal nipple morphology	199857	ALG14	OMIM:619036
HP:0004404	Abnormal nipple morphology	341640	FREM2	ORPHA:2052
HP:0004404	Abnormal nipple morphology	80144	FRAS1	ORPHA:2052
HP:0004404	Abnormal nipple morphology	80144	FRAS1	OMIM:219000
HP:0004404	Abnormal nipple morphology	23426	GRIP1	ORPHA:2052
HP:0004404	Abnormal nipple morphology	26128	KIFBP	OMIM:609460
HP:0004404	Abnormal nipple morphology	55627	SMPD4	OMIM:618622
HP:0004404	Abnormal nipple morphology	145173	B3GLCT	ORPHA:709
HP:0004404	Abnormal nipple morphology	145173	B3GLCT	OMIM:261540
HP:0004404	Abnormal nipple morphology	7707	ZNF148	OMIM:617260
HP:0004404	Abnormal nipple morphology	1349	COX7B	OMIM:300887
HP:0004404	Abnormal nipple morphology	10300	KATNB1	OMIM:616212
HP:0004404	Abnormal nipple morphology	2137	EXTL3	OMIM:617425
HP:0004404	Abnormal nipple morphology	22858	CILK1	OMIM:612651
HP:0004404	Abnormal nipple morphology	55690	PACS1	OMIM:615009
HP:0004404	Abnormal nipple morphology	55690	PACS1	ORPHA:329224
HP:0004404	Abnormal nipple morphology	4081	MAB21L1	OMIM:618479
HP:0004404	Abnormal nipple morphology	4081	MAB21L1	ORPHA:495875
HP:0004404	Abnormal nipple morphology	10982	MAPRE2	OMIM:616734
HP:0004404	Abnormal nipple morphology	1717	DHCR7	ORPHA:818
HP:0004404	Abnormal nipple morphology	5818	NECTIN1	ORPHA:3253
HP:0004404	Abnormal nipple morphology	55780	ERMARD	ORPHA:75857
HP:0004404	Abnormal nipple morphology	79158	GNPTAB	OMIM:252500
HP:0004404	Abnormal nipple morphology	9382	COG1	OMIM:611209
HP:0004404	Abnormal nipple morphology	3417	IDH1	ORPHA:99646
HP:0004404	Abnormal nipple morphology	55870	ASH1L	OMIM:617796
HP:0004404	Abnormal nipple morphology	9469	CHST3	OMIM:143095
HP:0004404	Abnormal nipple morphology	23511	NUP188	OMIM:618804
HP:0004404	Abnormal nipple morphology	2626	GATA4	ORPHA:251071
HP:0004404	Abnormal nipple morphology	23116	TOGARAM1	OMIM:619185
HP:0004404	Abnormal nipple morphology	7319	UBE2A	OMIM:300860
HP:0004404	Abnormal nipple morphology	7319	UBE2A	ORPHA:163956
HP:0004404	Abnormal nipple morphology	10087	CERT1	OMIM:616351
HP:0004404	Abnormal nipple morphology	8726	EED	OMIM:617561
HP:0004404	Abnormal nipple morphology	22884	WDR37	OMIM:618652
HP:0004404	Abnormal nipple morphology	372	ARCN1	OMIM:617164
HP:0004404	Abnormal nipple morphology	2783	GNB2	OMIM:619503
HP:0004404	Abnormal nipple morphology	5826	ABCD4	OMIM:614857
HP:0004404	Abnormal nipple morphology	4763	NF1	ORPHA:97685
HP:0004404	Abnormal nipple morphology	6874	TAF4	OMIM:620450
HP:0004404	Abnormal nipple morphology	79718	TBL1XR1	ORPHA:487825
HP:0004404	Abnormal nipple morphology	79718	TBL1XR1	OMIM:602342
HP:0004404	Abnormal nipple morphology	2074	ERCC6	OMIM:214150
HP:0004404	Abnormal nipple morphology	6611	SMS	ORPHA:3063
HP:0004404	Abnormal nipple morphology	6611	SMS	OMIM:309583
HP:0004404	Abnormal nipple morphology	22931	RAB18	OMIM:614222
HP:0004404	Abnormal nipple morphology	92609	TIMM50	OMIM:617698
HP:0004404	Abnormal nipple morphology	5293	PIK3CD	ORPHA:221139
HP:0004404	Abnormal nipple morphology	90417	KNSTRN	ORPHA:221139
HP:0004404	Abnormal nipple morphology	6595	SMARCA2	ORPHA:3051
HP:0004404	Abnormal nipple morphology	8567	MADD	OMIM:619004
HP:0004404	Abnormal nipple morphology	91875	TTC5	OMIM:619244
HP:0004404	Abnormal nipple morphology	5500	PPP1CB	OMIM:617506
HP:0004404	Abnormal nipple morphology	9772	TMEM94	OMIM:618316
HP:0004404	Abnormal nipple morphology	79971	WLS	OMIM:619648
HP:0004404	Abnormal nipple morphology	673	BRAF	OMIM:613707
HP:0004404	Abnormal nipple morphology	673	BRAF	OMIM:163950
HP:0004404	Abnormal nipple morphology	3911	LAMA5	OMIM:620076
HP:0004404	Abnormal nipple morphology	139285	AMER1	OMIM:300373
HP:0004404	Abnormal nipple morphology	1376	CPT2	OMIM:608836
HP:0004404	Abnormal nipple morphology	200205	IBA57	OMIM:615330
HP:0004404	Abnormal nipple morphology	284058	KANSL1	OMIM:610443
HP:0004404	Abnormal nipple morphology	22800	RRAS2	ORPHA:648
HP:0004404	Abnormal nipple morphology	867	CBL	ORPHA:648
HP:0004404	Abnormal nipple morphology	867	CBL	OMIM:613563
HP:0004404	Abnormal nipple morphology	8216	LZTR1	ORPHA:648
HP:0004404	Abnormal nipple morphology	8216	LZTR1	OMIM:605275
HP:0004404	Abnormal nipple morphology	6016	RIT1	ORPHA:648
HP:0004404	Abnormal nipple morphology	6237	RRAS	ORPHA:648
HP:0004404	Abnormal nipple morphology	5894	RAF1	ORPHA:648
HP:0004404	Abnormal nipple morphology	22808	MRAS	ORPHA:648
HP:0004404	Abnormal nipple morphology	200734	SPRED2	ORPHA:648
HP:0004404	Abnormal nipple morphology	4893	NRAS	ORPHA:648
HP:0004404	Abnormal nipple morphology	6654	SOS1	ORPHA:648
HP:0004404	Abnormal nipple morphology	6654	SOS1	OMIM:610733
HP:0004404	Abnormal nipple morphology	6655	SOS2	ORPHA:648
HP:0004404	Abnormal nipple morphology	5781	PTPN11	ORPHA:648
HP:0004404	Abnormal nipple morphology	5781	PTPN11	OMIM:163950
HP:0004404	Abnormal nipple morphology	5922	RASA2	ORPHA:648
HP:0004404	Abnormal nipple morphology	139886	SPIN4	OMIM:301114
HP:0004404	Abnormal nipple morphology	8621	CDK13	OMIM:617360
HP:0004404	Abnormal nipple morphology	54101	RIPK4	OMIM:263650
HP:0004404	Abnormal nipple morphology	9181	ARHGEF2	OMIM:617523
HP:0004404	Abnormal nipple morphology	29968	PSAT1	OMIM:616038
HP:0004404	Abnormal nipple morphology	6736	SRY	ORPHA:1772
HP:0004404	Abnormal nipple morphology	55770	EXOC2	OMIM:619306
HP:0004404	Abnormal nipple morphology	2263	FGFR2	OMIM:101200
HP:0004404	Abnormal nipple morphology	5604	MAP2K1	OMIM:163950
HP:0004404	Abnormal nipple morphology	9897	WASHC5	ORPHA:7
HP:0004404	Abnormal nipple morphology	28952	CCDC22	ORPHA:7
HP:0004404	Abnormal nipple morphology	57020	VPS35L	ORPHA:7
HP:0004404	Abnormal nipple morphology	56896	DPYSL5	ORPHA:7
HP:0004404	Abnormal nipple morphology	284252	KCTD1	OMIM:181270
HP:0004404	Abnormal nipple morphology	284252	KCTD1	ORPHA:2036
HP:0004404	Abnormal nipple morphology	9896	FIG4	ORPHA:3472
HP:0004404	Abnormal nipple morphology	55697	VAC14	ORPHA:3472
HP:0004404	Abnormal nipple morphology	10815	CPLX1	ORPHA:280
HP:0004404	Abnormal nipple morphology	54872	PIGG	ORPHA:280
HP:0004404	Abnormal nipple morphology	7469	NELFA	ORPHA:280
HP:0004404	Abnormal nipple morphology	1487	CTBP1	ORPHA:280
HP:0004404	Abnormal nipple morphology	3954	LETM1	ORPHA:280
HP:0004404	Abnormal nipple morphology	7468	NSD2	ORPHA:280
HP:0004404	Abnormal nipple morphology	1947	EFNB1	ORPHA:1520
HP:0004404	Abnormal nipple morphology	23556	PIGN	ORPHA:2059
HP:0004404	Abnormal nipple morphology	7473	WNT3	ORPHA:3301
HP:0004404	Abnormal nipple morphology	340419	RSPO2	ORPHA:3301
HP:0004404	Abnormal nipple morphology	9496	TBX4	ORPHA:3301
HP:0000269	Prominent occiput	23019	CNOT1	OMIM:618500
HP:0000269	Prominent occiput	23019	CNOT1	ORPHA:556955
HP:0000269	Prominent occiput	28981	IFT81	OMIM:617895
HP:0000269	Prominent occiput	57061	HYMAI	ORPHA:96191
HP:0000269	Prominent occiput	5325	PLAGL1	ORPHA:96191
HP:0000269	Prominent occiput	56006	SMG9	OMIM:616920
HP:0000269	Prominent occiput	3265	HRAS	ORPHA:2612
HP:0000269	Prominent occiput	3845	KRAS	ORPHA:2612
HP:0000269	Prominent occiput	4893	NRAS	ORPHA:2612
HP:0000269	Prominent occiput	1859	DYRK1A	OMIM:614104
HP:0000269	Prominent occiput	7291	TWIST1	OMIM:123100
HP:0000269	Prominent occiput	7291	TWIST1	ORPHA:35093
HP:0000269	Prominent occiput	100151683	RNU4ATAC	OMIM:210710
HP:0000269	Prominent occiput	100151683	RNU4ATAC	ORPHA:2636
HP:0000269	Prominent occiput	1861	TOR1A	OMIM:618947
HP:0000269	Prominent occiput	526	ATP6V1B2	ORPHA:79500
HP:0000269	Prominent occiput	57465	TBC1D24	ORPHA:79500
HP:0000269	Prominent occiput	2737	GLI3	ORPHA:36
HP:0000269	Prominent occiput	374654	KIF7	ORPHA:36
HP:0000269	Prominent occiput	374654	KIF7	OMIM:200990
HP:0000269	Prominent occiput	23556	PIGN	ORPHA:280633
HP:0000269	Prominent occiput	5649	RELN	ORPHA:89844
HP:0000269	Prominent occiput	10300	KATNB1	ORPHA:89844
HP:0000269	Prominent occiput	54820	NDE1	ORPHA:89844
HP:0000269	Prominent occiput	83737	ITCH	OMIM:613385
HP:0000269	Prominent occiput	83737	ITCH	ORPHA:228426
HP:0000269	Prominent occiput	10220	GDF11	OMIM:619122
HP:0000269	Prominent occiput	4849	CNOT3	OMIM:618672
HP:0000269	Prominent occiput	6911	TBX6	ORPHA:1797
HP:0000269	Prominent occiput	7841	MOGS	ORPHA:79330
HP:0000269	Prominent occiput	7841	MOGS	OMIM:606056
HP:0000269	Prominent occiput	57539	WDR35	ORPHA:1515
HP:0000269	Prominent occiput	112752	IFT43	ORPHA:1515
HP:0000269	Prominent occiput	51098	IFT52	ORPHA:1515
HP:0000269	Prominent occiput	55764	IFT122	ORPHA:1515
HP:0000269	Prominent occiput	57728	WDR19	ORPHA:1515
HP:0000269	Prominent occiput	9897	WASHC5	OMIM:220210
HP:0000269	Prominent occiput	9897	WASHC5	ORPHA:7
HP:0000269	Prominent occiput	4784	NFIX	OMIM:602535
HP:0000269	Prominent occiput	1513	CTSK	OMIM:265800
HP:0000269	Prominent occiput	1028	CDKN1C	OMIM:130650
HP:0000269	Prominent occiput	3481	IGF2	OMIM:130650
HP:0000269	Prominent occiput	3784	KCNQ1	OMIM:130650
HP:0000269	Prominent occiput	10984	KCNQ1OT1	OMIM:130650
HP:0000269	Prominent occiput	7021	TFAP2B	ORPHA:46627
HP:0000269	Prominent occiput	9968	MED12	ORPHA:93932
HP:0000269	Prominent occiput	134701	RIPPLY2	ORPHA:2311
HP:0000269	Prominent occiput	10683	DLL3	ORPHA:2311
HP:0000269	Prominent occiput	3955	LFNG	ORPHA:2311
HP:0000269	Prominent occiput	84667	HES7	ORPHA:2311
HP:0000269	Prominent occiput	145873	MESP2	ORPHA:2311
HP:0000269	Prominent occiput	1147	CHUK	OMIM:619339
HP:0000269	Prominent occiput	2317	FLNB	OMIM:108721
HP:0000269	Prominent occiput	23522	KAT6B	ORPHA:3047
HP:0000269	Prominent occiput	23522	KAT6B	OMIM:603736
HP:0000269	Prominent occiput	28952	CCDC22	ORPHA:7
HP:0000269	Prominent occiput	57020	VPS35L	ORPHA:7
HP:0000269	Prominent occiput	56896	DPYSL5	ORPHA:7
HP:0000269	Prominent occiput	538	ATP7A	ORPHA:565
HP:0000269	Prominent occiput	55553	SOX6	OMIM:618971
HP:0000269	Prominent occiput	8621	CDK13	OMIM:617360
HP:0000269	Prominent occiput	5277	PIGA	OMIM:300868
HP:0000269	Prominent occiput	2703	GJA8	OMIM:612474
HP:0000269	Prominent occiput	2702	GJA5	OMIM:612474
HP:0000269	Prominent occiput	4613	MYCN	OMIM:164280
HP:0000269	Prominent occiput	2316	FLNA	OMIM:311300
HP:0000269	Prominent occiput	2077	ERF	ORPHA:35093
HP:0000269	Prominent occiput	60529	ALX4	ORPHA:35093
HP:0000269	Prominent occiput	4853	NOTCH2	ORPHA:955
HP:0004488	Macrocephaly at birth	6567	SLC16A2	ORPHA:59
HP:0004488	Macrocephaly at birth	4953	ODC1	OMIM:619075
HP:0004488	Macrocephaly at birth	23556	PIGN	ORPHA:280633
HP:0004488	Macrocephaly at birth	274	BIN1	ORPHA:169189
HP:0004488	Macrocephaly at birth	64419	MTMR14	ORPHA:169189
HP:0004488	Macrocephaly at birth	4618	MYF6	ORPHA:169189
HP:0004488	Macrocephaly at birth	1785	DNM2	ORPHA:169189
HP:0004488	Macrocephaly at birth	6261	RYR1	ORPHA:169189
HP:0004488	Macrocephaly at birth	54914	FOCAD	OMIM:619991
HP:0004487	Acrobrachycephaly	2263	FGFR2	ORPHA:87
HP:0004487	Acrobrachycephaly	2263	FGFR2	OMIM:101200
HP:0004485	Cessation of head growth	1967	EIF2B1	OMIM:603896
HP:0004485	Cessation of head growth	7337	UBE3A	ORPHA:98794
HP:0004485	Cessation of head growth	7337	UBE3A	ORPHA:98795
HP:0004485	Cessation of head growth	7337	UBE3A	ORPHA:411511
HP:0004485	Cessation of head growth	7337	UBE3A	ORPHA:411515
HP:0004485	Cessation of head growth	4948	OCA2	ORPHA:98794
HP:0004485	Cessation of head growth	9373	PLAA	OMIM:617527
HP:0004485	Cessation of head growth	6638	SNRPN	ORPHA:411515
HP:0004485	Cessation of head growth	57194	ATP10A	ORPHA:411515
HP:0001252	Hypotonia	2892	GRIA3	ORPHA:364028
HP:0001252	Hypotonia	9499	MYOT	ORPHA:266
HP:0001252	Hypotonia	200424	TET3	OMIM:618798
HP:0001252	Hypotonia	271	AMPD2	OMIM:615809
HP:0001252	Hypotonia	8242	KDM5C	OMIM:300534
HP:0001252	Hypotonia	818	CAMK2G	OMIM:618522
HP:0001252	Hypotonia	10463	SLC30A9	OMIM:617595
HP:0001252	Hypotonia	10735	STAG2	ORPHA:521258
HP:0001252	Hypotonia	5455	POU3F3	OMIM:618604
HP:0001252	Hypotonia	29940	DSE	OMIM:615539
HP:0001252	Hypotonia	5081	PAX7	OMIM:618578
HP:0001252	Hypotonia	64132	XYLT2	ORPHA:85194
HP:0001252	Hypotonia	1145	CHRNE	OMIM:608931
HP:0001252	Hypotonia	1145	CHRNE	OMIM:616324
HP:0001252	Hypotonia	2673	GFPT1	OMIM:608931
HP:0001252	Hypotonia	1139	CHRNA7	ORPHA:199318
HP:0001252	Hypotonia	1139	CHRNA7	OMIM:612001
HP:0001252	Hypotonia	10059	DNM1L	OMIM:614388
HP:0001252	Hypotonia	1134	CHRNA1	OMIM:608930
HP:0001252	Hypotonia	55209	SETD5	ORPHA:404440
HP:0001252	Hypotonia	2731	GLDC	OMIM:605899
HP:0001252	Hypotonia	1729	DIAPH1	ORPHA:477814
HP:0001252	Hypotonia	1729	DIAPH1	OMIM:616632
HP:0001252	Hypotonia	2593	GAMT	ORPHA:382
HP:0001252	Hypotonia	2593	GAMT	OMIM:612736
HP:0001252	Hypotonia	283489	CHAMP1	OMIM:616579
HP:0001252	Hypotonia	23322	RPGRIP1L	ORPHA:220497
HP:0001252	Hypotonia	23322	RPGRIP1L	ORPHA:1454
HP:0001252	Hypotonia	4867	NPHP1	ORPHA:220497
HP:0001252	Hypotonia	4867	NPHP1	OMIM:609583
HP:0001252	Hypotonia	65062	TMEM237	ORPHA:220497
HP:0001252	Hypotonia	65062	TMEM237	ORPHA:2318
HP:0001252	Hypotonia	65062	TMEM237	ORPHA:475
HP:0001252	Hypotonia	65062	TMEM237	OMIM:614424
HP:0001252	Hypotonia	477	ATP1A2	OMIM:619605
HP:0001252	Hypotonia	477	ATP1A2	ORPHA:2131
HP:0001252	Hypotonia	27245	AHDC1	ORPHA:412069
HP:0001252	Hypotonia	27245	AHDC1	OMIM:615829
HP:0001252	Hypotonia	2137	EXTL3	OMIM:617425
HP:0001252	Hypotonia	2137	EXTL3	ORPHA:508533
HP:0001252	Hypotonia	166378	AFG2A	OMIM:616577
HP:0001252	Hypotonia	84466	MEGF10	OMIM:614399
HP:0001252	Hypotonia	84466	MEGF10	OMIM:620249
HP:0001252	Hypotonia	54806	AHI1	ORPHA:220493
HP:0001252	Hypotonia	54806	AHI1	ORPHA:475
HP:0001252	Hypotonia	54806	AHI1	OMIM:608629
HP:0001252	Hypotonia	56623	INPP5E	ORPHA:220493
HP:0001252	Hypotonia	56623	INPP5E	OMIM:213300
HP:0001252	Hypotonia	56623	INPP5E	ORPHA:75858
HP:0001252	Hypotonia	56623	INPP5E	ORPHA:1454
HP:0001252	Hypotonia	56623	INPP5E	OMIM:610156
HP:0001252	Hypotonia	56623	INPP5E	ORPHA:475
HP:0001252	Hypotonia	153241	CEP120	ORPHA:220493
HP:0001252	Hypotonia	153241	CEP120	OMIM:617761
HP:0001252	Hypotonia	153241	CEP120	ORPHA:475
HP:0001252	Hypotonia	54903	MKS1	ORPHA:220493
HP:0001252	Hypotonia	54903	MKS1	ORPHA:475
HP:0001252	Hypotonia	54903	MKS1	OMIM:249000
HP:0001252	Hypotonia	95681	CEP41	ORPHA:220493
HP:0001252	Hypotonia	95681	CEP41	ORPHA:475
HP:0001252	Hypotonia	95681	CEP41	OMIM:614464
HP:0001252	Hypotonia	1161	ERCC8	OMIM:216400
HP:0001252	Hypotonia	1161	ERCC8	ORPHA:90321
HP:0001252	Hypotonia	79158	GNPTAB	OMIM:252500
HP:0001252	Hypotonia	79693	YRDC	OMIM:619609
HP:0001252	Hypotonia	79693	YRDC	ORPHA:2065
HP:0001252	Hypotonia	7253	TSHR	ORPHA:90673
HP:0001252	Hypotonia	7253	TSHR	ORPHA:95720
HP:0001252	Hypotonia	7253	TSHR	ORPHA:95713
HP:0001252	Hypotonia	7252	TSHB	ORPHA:90674
HP:0001252	Hypotonia	7252	TSHB	OMIM:275100
HP:0001252	Hypotonia	8029	CUBN	ORPHA:35858
HP:0001252	Hypotonia	81693	AMN	ORPHA:35858
HP:0001252	Hypotonia	55687	TRMU	OMIM:613070
HP:0001252	Hypotonia	3190	HNRNPK	OMIM:616580
HP:0001252	Hypotonia	3190	HNRNPK	ORPHA:453504
HP:0001252	Hypotonia	3190	HNRNPK	ORPHA:352665
HP:0001252	Hypotonia	54453	RIN2	OMIM:613075
HP:0001252	Hypotonia	79029	AFG2B	OMIM:619616
HP:0001252	Hypotonia	2261	FGFR3	ORPHA:1860
HP:0001252	Hypotonia	2261	FGFR3	ORPHA:93274
HP:0001252	Hypotonia	2261	FGFR3	OMIM:187600
HP:0001252	Hypotonia	7436	VLDLR	OMIM:224050
HP:0001252	Hypotonia	7436	VLDLR	ORPHA:1766
HP:0001252	Hypotonia	54543	TOMM7	OMIM:620601
HP:0001252	Hypotonia	7386	UQCRFS1	OMIM:618775
HP:0001252	Hypotonia	9997	SCO2	OMIM:608908
HP:0001252	Hypotonia	9997	SCO2	OMIM:604377
HP:0001252	Hypotonia	790955	UQCC3	OMIM:616111
HP:0001252	Hypotonia	3340	NDST1	OMIM:616116
HP:0001252	Hypotonia	6602	SMARCD1	OMIM:618779
HP:0001252	Hypotonia	4747	NEFL	ORPHA:101085
HP:0001252	Hypotonia	5373	PMM2	OMIM:212065
HP:0001252	Hypotonia	11285	B4GALT7	OMIM:130070
HP:0001252	Hypotonia	11285	B4GALT7	ORPHA:75496
HP:0001252	Hypotonia	1187	CLCNKA	OMIM:613090
HP:0001252	Hypotonia	1187	CLCNKA	ORPHA:89938
HP:0001252	Hypotonia	1188	CLCNKB	OMIM:613090
HP:0001252	Hypotonia	1188	CLCNKB	ORPHA:89938
HP:0001252	Hypotonia	55768	NGLY1	OMIM:615273
HP:0001252	Hypotonia	8493	PPM1D	OMIM:617450
HP:0001252	Hypotonia	55621	TRMT1	OMIM:618302
HP:0001252	Hypotonia	5593	PRKG2	OMIM:619638
HP:0001252	Hypotonia	5593	PRKG2	OMIM:619636
HP:0001252	Hypotonia	9354	UBE4A	OMIM:619639
HP:0001252	Hypotonia	55280	CWF19L1	OMIM:616127
HP:0001252	Hypotonia	5604	MAP2K1	OMIM:615279
HP:0001252	Hypotonia	5604	MAP2K1	ORPHA:1340
HP:0001252	Hypotonia	2517	FUCA1	ORPHA:349
HP:0001252	Hypotonia	2517	FUCA1	OMIM:230000
HP:0001252	Hypotonia	2203	FBP1	ORPHA:348
HP:0001252	Hypotonia	2203	FBP1	OMIM:229700
HP:0001252	Hypotonia	111	ADCY5	OMIM:606703
HP:0001252	Hypotonia	79718	TBL1XR1	OMIM:602342
HP:0001252	Hypotonia	79718	TBL1XR1	OMIM:616944
HP:0001252	Hypotonia	79718	TBL1XR1	ORPHA:487825
HP:0001252	Hypotonia	5605	MAP2K2	OMIM:615280
HP:0001252	Hypotonia	5605	MAP2K2	ORPHA:1340
HP:0001252	Hypotonia	54828	BCAS3	OMIM:619641
HP:0001252	Hypotonia	253959	RALGAPA1	OMIM:618797
HP:0001252	Hypotonia	11041	B4GAT1	OMIM:615287
HP:0001252	Hypotonia	11041	B4GAT1	ORPHA:899
HP:0001252	Hypotonia	2232	FDXR	ORPHA:543470
HP:0001252	Hypotonia	113179	ADAT3	OMIM:615286
HP:0001252	Hypotonia	2904	GRIN2B	OMIM:616139
HP:0001252	Hypotonia	163175	LGI4	OMIM:617468
HP:0001252	Hypotonia	163175	LGI4	ORPHA:2680
HP:0001252	Hypotonia	79971	WLS	OMIM:619648
HP:0001252	Hypotonia	56652	TWNK	OMIM:271245
HP:0001252	Hypotonia	4208	MEF2C	ORPHA:228384
HP:0001252	Hypotonia	4208	MEF2C	OMIM:613443
HP:0001252	Hypotonia	775	CACNA1C	OMIM:601005
HP:0001252	Hypotonia	775	CACNA1C	OMIM:620029
HP:0001252	Hypotonia	2239	GPC4	ORPHA:373
HP:0001252	Hypotonia	2239	GPC4	OMIM:312870
HP:0001252	Hypotonia	2719	GPC3	ORPHA:373
HP:0001252	Hypotonia	2719	GPC3	OMIM:312870
HP:0001252	Hypotonia	4000	LMNA	ORPHA:157973
HP:0001252	Hypotonia	4000	LMNA	ORPHA:90153
HP:0001252	Hypotonia	4000	LMNA	OMIM:613205
HP:0001252	Hypotonia	4000	LMNA	ORPHA:98855
HP:0001252	Hypotonia	4000	LMNA	ORPHA:98853
HP:0001252	Hypotonia	6843	VAMP1	OMIM:618323
HP:0001252	Hypotonia	6843	VAMP1	ORPHA:98914
HP:0001252	Hypotonia	197258	FCSK	OMIM:618324
HP:0001252	Hypotonia	125988	MICOS13	OMIM:618329
HP:0001252	Hypotonia	25836	NIPBL	OMIM:122470
HP:0001252	Hypotonia	25836	NIPBL	ORPHA:199
HP:0001252	Hypotonia	23499	MACF1	OMIM:618325
HP:0001252	Hypotonia	54148	MRPL39	OMIM:620646
HP:0001252	Hypotonia	2744	GLS	OMIM:618328
HP:0001252	Hypotonia	5836	PYGL	ORPHA:369
HP:0001252	Hypotonia	2629	GBA1	ORPHA:77260
HP:0001252	Hypotonia	2629	GBA1	ORPHA:85212
HP:0001252	Hypotonia	58497	PRUNE1	OMIM:617481
HP:0001252	Hypotonia	1523	CUX1	OMIM:618330
HP:0001252	Hypotonia	84188	FAR1	OMIM:616154
HP:0001252	Hypotonia	5813	PURA	OMIM:616158
HP:0001252	Hypotonia	5908	RAP1B	OMIM:620654
HP:0001252	Hypotonia	835	CASP2	OMIM:620653
HP:0001252	Hypotonia	7227	TRPS1	ORPHA:77258
HP:0001252	Hypotonia	7227	TRPS1	ORPHA:502
HP:0001252	Hypotonia	4921	DDR2	OMIM:271665
HP:0001252	Hypotonia	3155	HMGCL	ORPHA:20
HP:0001252	Hypotonia	3155	HMGCL	OMIM:246450
HP:0001252	Hypotonia	7915	ALDH5A1	ORPHA:22
HP:0001252	Hypotonia	7915	ALDH5A1	OMIM:271980
HP:0001252	Hypotonia	8925	HERC1	OMIM:617011
HP:0001252	Hypotonia	8925	HERC1	ORPHA:457359
HP:0001252	Hypotonia	4598	MVK	ORPHA:29
HP:0001252	Hypotonia	4598	MVK	OMIM:610377
HP:0001252	Hypotonia	23516	SLC39A14	OMIM:617013
HP:0001252	Hypotonia	10564	ARFGEF2	OMIM:608097
HP:0001252	Hypotonia	8573	CASK	OMIM:300749
HP:0001252	Hypotonia	1798	DPAGT1	OMIM:608093
HP:0001252	Hypotonia	1798	DPAGT1	OMIM:614750
HP:0001252	Hypotonia	55746	NUP133	OMIM:618349
HP:0001252	Hypotonia	55746	NUP133	ORPHA:2065
HP:0001252	Hypotonia	51259	TMEM216	OMIM:608091
HP:0001252	Hypotonia	51259	TMEM216	ORPHA:2318
HP:0001252	Hypotonia	51259	TMEM216	ORPHA:2754
HP:0001252	Hypotonia	2671	GFER	ORPHA:330054
HP:0001252	Hypotonia	2200	FBN1	ORPHA:284979
HP:0001252	Hypotonia	2200	FBN1	OMIM:616914
HP:0001252	Hypotonia	2200	FBN1	ORPHA:2462
HP:0001252	Hypotonia	56945	MRPS22	OMIM:611719
HP:0001252	Hypotonia	3712	IVD	ORPHA:33
HP:0001252	Hypotonia	5515	PPP2CA	OMIM:618354
HP:0001252	Hypotonia	23114	NFASC	OMIM:618356
HP:0001252	Hypotonia	116461	TSEN15	OMIM:617026
HP:0001252	Hypotonia	5660	PSAP	OMIM:611721
HP:0001252	Hypotonia	5660	PSAP	OMIM:249900
HP:0001252	Hypotonia	5660	PSAP	ORPHA:139406
HP:0001252	Hypotonia	25885	POLR1A	OMIM:620675
HP:0001252	Hypotonia	25885	POLR1A	OMIM:616462
HP:0001252	Hypotonia	51114	ZDHHC9	ORPHA:776
HP:0001252	Hypotonia	65109	UPF3B	ORPHA:776
HP:0001252	Hypotonia	65109	UPF3B	OMIM:300676
HP:0001252	Hypotonia	9968	MED12	ORPHA:776
HP:0001252	Hypotonia	9968	MED12	OMIM:300895
HP:0001252	Hypotonia	9968	MED12	OMIM:305450
HP:0001252	Hypotonia	3767	KCNJ11	ORPHA:99885
HP:0001252	Hypotonia	3767	KCNJ11	ORPHA:99886
HP:0001252	Hypotonia	6774	STAT3	ORPHA:99885
HP:0001252	Hypotonia	2645	GCK	ORPHA:99885
HP:0001252	Hypotonia	3651	PDX1	ORPHA:99885
HP:0001252	Hypotonia	6833	ABCC8	ORPHA:99885
HP:0001252	Hypotonia	6833	ABCC8	ORPHA:99886
HP:0001252	Hypotonia	3630	INS	ORPHA:99885
HP:0001252	Hypotonia	346171	ZFP57	ORPHA:99886
HP:0001252	Hypotonia	57061	HYMAI	ORPHA:99886
HP:0001252	Hypotonia	5325	PLAGL1	ORPHA:99886
HP:0001252	Hypotonia	57190	SELENON	OMIM:602771
HP:0001252	Hypotonia	57190	SELENON	ORPHA:2020
HP:0001252	Hypotonia	79709	COLGALT1	OMIM:618360
HP:0001252	Hypotonia	473	RERE	ORPHA:494344
HP:0001252	Hypotonia	473	RERE	OMIM:616975
HP:0001252	Hypotonia	473	RERE	ORPHA:1606
HP:0001252	Hypotonia	347733	TUBB2B	ORPHA:467166
HP:0001252	Hypotonia	347733	TUBB2B	ORPHA:45358
HP:0001252	Hypotonia	347733	TUBB2B	ORPHA:1766
HP:0001252	Hypotonia	7846	TUBA1A	ORPHA:467166
HP:0001252	Hypotonia	7846	TUBA1A	OMIM:611603
HP:0001252	Hypotonia	7846	TUBA1A	ORPHA:171680
HP:0001252	Hypotonia	7846	TUBA1A	ORPHA:45358
HP:0001252	Hypotonia	10381	TUBB3	ORPHA:467166
HP:0001252	Hypotonia	10381	TUBB3	ORPHA:45358
HP:0001252	Hypotonia	22930	RAB3GAP1	OMIM:600118
HP:0001252	Hypotonia	22930	RAB3GAP1	ORPHA:2510
HP:0001252	Hypotonia	51434	ANAPC7	OMIM:619699
HP:0001252	Hypotonia	6601	SMARCC2	OMIM:618362
HP:0001252	Hypotonia	7468	NSD2	OMIM:619695
HP:0001252	Hypotonia	7468	NSD2	ORPHA:280
HP:0001252	Hypotonia	267010	RNU12	OMIM:620208
HP:0001252	Hypotonia	64856	VWA1	OMIM:619216
HP:0001252	Hypotonia	3054	HCFC1	OMIM:309541
HP:0001252	Hypotonia	2019	EN1	OMIM:619218
HP:0001252	Hypotonia	3183	HNRNPC	OMIM:620688
HP:0001252	Hypotonia	51608	GET4	OMIM:620200
HP:0001252	Hypotonia	5805	PTS	ORPHA:13
HP:0001252	Hypotonia	7703	PCGF2	OMIM:618371
HP:0001252	Hypotonia	1277	COL1A1	OMIM:130060
HP:0001252	Hypotonia	1277	COL1A1	ORPHA:1899
HP:0001252	Hypotonia	1277	COL1A1	ORPHA:287
HP:0001252	Hypotonia	7086	TKT	OMIM:617044
HP:0001252	Hypotonia	7086	TKT	ORPHA:488618
HP:0001252	Hypotonia	6390	SDHB	OMIM:619224
HP:0001252	Hypotonia	84705	GTPBP3	OMIM:616198
HP:0001252	Hypotonia	6304	SATB1	OMIM:619228
HP:0001252	Hypotonia	6304	SATB1	OMIM:619229
HP:0001252	Hypotonia	8883	NAE1	OMIM:620210
HP:0001252	Hypotonia	220296	HEPACAM	OMIM:613926
HP:0001252	Hypotonia	220296	HEPACAM	ORPHA:210548
HP:0001252	Hypotonia	3028	HSD17B10	ORPHA:391428
HP:0001252	Hypotonia	3028	HSD17B10	OMIM:300438
HP:0001252	Hypotonia	50801	KCNK4	OMIM:618381
HP:0001252	Hypotonia	83480	PUS3	OMIM:617051
HP:0001252	Hypotonia	84265	POLR3GL	OMIM:619234
HP:0001252	Hypotonia	55697	VAC14	OMIM:617054
HP:0001252	Hypotonia	5913	RAPSN	OMIM:618388
HP:0001252	Hypotonia	5913	RAPSN	OMIM:616326
HP:0001252	Hypotonia	27107	ZBTB11	OMIM:618383
HP:0001252	Hypotonia	3032	HADHB	ORPHA:746
HP:0001252	Hypotonia	3030	HADHA	ORPHA:746
HP:0001252	Hypotonia	3030	HADHA	ORPHA:5
HP:0001252	Hypotonia	3030	HADHA	OMIM:609015
HP:0001252	Hypotonia	3030	HADHA	OMIM:609016
HP:0001252	Hypotonia	31	ACACA	OMIM:613933
HP:0001252	Hypotonia	2218	FKTN	OMIM:253800
HP:0001252	Hypotonia	2218	FKTN	ORPHA:272
HP:0001252	Hypotonia	2218	FKTN	OMIM:611588
HP:0001252	Hypotonia	2218	FKTN	ORPHA:588
HP:0001252	Hypotonia	2218	FKTN	OMIM:236670
HP:0001252	Hypotonia	2218	FKTN	ORPHA:899
HP:0001252	Hypotonia	2218	FKTN	OMIM:613152
HP:0001252	Hypotonia	80036	TRPM3	OMIM:620224
HP:0001252	Hypotonia	1457	CSNK2A1	OMIM:617062
HP:0001252	Hypotonia	7204	TRIO	OMIM:617061
HP:0001252	Hypotonia	9325	TRIP4	OMIM:617066
HP:0001252	Hypotonia	203068	TUBB	OMIM:156610
HP:0001252	Hypotonia	60558	GUF1	OMIM:617065
HP:0001252	Hypotonia	23112	TNRC6B	OMIM:619243
HP:0001252	Hypotonia	2566	GABRG2	OMIM:618396
HP:0001252	Hypotonia	2566	GABRG2	ORPHA:36387
HP:0001252	Hypotonia	91875	TTC5	OMIM:619244
HP:0001252	Hypotonia	5625	PRODH	OMIM:239500
HP:0001252	Hypotonia	10551	AGR2	OMIM:620233
HP:0001252	Hypotonia	126792	B3GALT6	OMIM:271640
HP:0001252	Hypotonia	126792	B3GALT6	ORPHA:536467
HP:0001252	Hypotonia	126792	B3GALT6	OMIM:615349
HP:0001252	Hypotonia	55670	PEX26	ORPHA:772
HP:0001252	Hypotonia	55670	PEX26	ORPHA:44
HP:0001252	Hypotonia	5824	PEX19	ORPHA:772
HP:0001252	Hypotonia	5824	PEX19	ORPHA:44
HP:0001252	Hypotonia	5824	PEX19	OMIM:614886
HP:0001252	Hypotonia	5828	PEX2	ORPHA:772
HP:0001252	Hypotonia	5828	PEX2	ORPHA:44
HP:0001252	Hypotonia	5828	PEX2	OMIM:614866
HP:0001252	Hypotonia	8504	PEX3	ORPHA:772
HP:0001252	Hypotonia	8504	PEX3	ORPHA:44
HP:0001252	Hypotonia	9409	PEX16	ORPHA:772
HP:0001252	Hypotonia	9409	PEX16	ORPHA:44
HP:0001252	Hypotonia	5190	PEX6	ORPHA:772
HP:0001252	Hypotonia	5190	PEX6	ORPHA:44
HP:0001252	Hypotonia	8799	PEX11B	ORPHA:772
HP:0001252	Hypotonia	8799	PEX11B	ORPHA:44
HP:0001252	Hypotonia	5830	PEX5	ORPHA:772
HP:0001252	Hypotonia	5830	PEX5	ORPHA:44
HP:0001252	Hypotonia	5830	PEX5	OMIM:214110
HP:0001252	Hypotonia	5189	PEX1	ORPHA:772
HP:0001252	Hypotonia	5189	PEX1	ORPHA:44
HP:0001252	Hypotonia	5189	PEX1	OMIM:214100
HP:0001252	Hypotonia	5193	PEX12	ORPHA:772
HP:0001252	Hypotonia	5193	PEX12	ORPHA:44
HP:0001252	Hypotonia	5193	PEX12	OMIM:266510
HP:0001252	Hypotonia	5193	PEX12	OMIM:614859
HP:0001252	Hypotonia	5194	PEX13	ORPHA:772
HP:0001252	Hypotonia	5194	PEX13	ORPHA:44
HP:0001252	Hypotonia	5194	PEX13	OMIM:614885
HP:0001252	Hypotonia	5195	PEX14	ORPHA:772
HP:0001252	Hypotonia	5195	PEX14	ORPHA:44
HP:0001252	Hypotonia	5195	PEX14	OMIM:614887
HP:0001252	Hypotonia	5192	PEX10	ORPHA:772
HP:0001252	Hypotonia	5192	PEX10	ORPHA:44
HP:0001252	Hypotonia	5192	PEX10	OMIM:614870
HP:0001252	Hypotonia	5192	PEX10	OMIM:614871
HP:0001252	Hypotonia	5264	PHYH	ORPHA:773
HP:0001252	Hypotonia	5191	PEX7	ORPHA:773
HP:0001252	Hypotonia	51594	NBAS	OMIM:614800
HP:0001252	Hypotonia	8831	SYNGAP1	OMIM:612621
HP:0001252	Hypotonia	8831	SYNGAP1	ORPHA:1942
HP:0001252	Hypotonia	8831	SYNGAP1	ORPHA:544254
HP:0001252	Hypotonia	54187	NANS	OMIM:610442
HP:0001252	Hypotonia	1968	EIF2S3	ORPHA:85282
HP:0001252	Hypotonia	779	CACNA1S	OMIM:620246
HP:0001252	Hypotonia	779	CACNA1S	OMIM:170400
HP:0001252	Hypotonia	81615	TMEM163	OMIM:620243
HP:0001252	Hypotonia	10079	ATP9A	OMIM:620242
HP:0001252	Hypotonia	124093	CCDC78	OMIM:614807
HP:0001252	Hypotonia	2801	GOLGA2	OMIM:620240
HP:0001252	Hypotonia	4860	PNP	ORPHA:760
HP:0001252	Hypotonia	4860	PNP	OMIM:613179
HP:0001252	Hypotonia	64802	NMNAT1	OMIM:619260
HP:0001252	Hypotonia	64802	NMNAT1	ORPHA:65
HP:0001252	Hypotonia	56947	MFF	OMIM:617086
HP:0001252	Hypotonia	5256	PHKA2	OMIM:306000
HP:0001252	Hypotonia	5256	PHKA2	ORPHA:264580
HP:0001252	Hypotonia	25886	POC1A	OMIM:614813
HP:0001252	Hypotonia	283450	HECTD4	OMIM:620250
HP:0001252	Hypotonia	168667	BMPER	OMIM:608022
HP:0001252	Hypotonia	64374	SIL1	OMIM:248800
HP:0001252	Hypotonia	64374	SIL1	ORPHA:559
HP:0001252	Hypotonia	2294	FOXF1	OMIM:265380
HP:0001252	Hypotonia	8450	CUL4B	OMIM:300354
HP:0001252	Hypotonia	6535	SLC6A8	OMIM:300352
HP:0001252	Hypotonia	6535	SLC6A8	ORPHA:52503
HP:0001252	Hypotonia	26960	NBEA	OMIM:619157
HP:0001252	Hypotonia	6309	SC5D	ORPHA:46059
HP:0001252	Hypotonia	26128	KIFBP	OMIM:609460
HP:0001252	Hypotonia	26128	KIFBP	ORPHA:66629
HP:0001252	Hypotonia	5631	PRPS1	ORPHA:411543
HP:0001252	Hypotonia	5631	PRPS1	OMIM:300661
HP:0001252	Hypotonia	652	BMP4	ORPHA:828
HP:0001252	Hypotonia	652	BMP4	OMIM:607932
HP:0001252	Hypotonia	25821	MTO1	OMIM:614702
HP:0001252	Hypotonia	781	CACNA2D1	OMIM:620149
HP:0001252	Hypotonia	51343	FZR1	OMIM:620145
HP:0001252	Hypotonia	79581	SLC52A2	OMIM:614707
HP:0001252	Hypotonia	64324	NSD1	ORPHA:821
HP:0001252	Hypotonia	64324	NSD1	OMIM:117550
HP:0001252	Hypotonia	10297	APC2	ORPHA:821
HP:0001252	Hypotonia	10297	APC2	OMIM:618677
HP:0001252	Hypotonia	89910	UBE3B	OMIM:244450
HP:0001252	Hypotonia	6311	ATXN2	OMIM:183090
HP:0001252	Hypotonia	6392	SDHD	OMIM:619167
HP:0001252	Hypotonia	55788	LMBRD1	OMIM:277380
HP:0001252	Hypotonia	55788	LMBRD1	ORPHA:79284
HP:0001252	Hypotonia	9640	ZNF592	ORPHA:83472
HP:0001252	Hypotonia	84942	WDR73	ORPHA:83472
HP:0001252	Hypotonia	84942	WDR73	ORPHA:2065
HP:0001252	Hypotonia	84942	WDR73	OMIM:251300
HP:0001252	Hypotonia	224	ALDH3A2	ORPHA:816
HP:0001252	Hypotonia	2314	FLII	ORPHA:819
HP:0001252	Hypotonia	23096	IQSEC2	ORPHA:819
HP:0001252	Hypotonia	23096	IQSEC2	ORPHA:397933
HP:0001252	Hypotonia	10743	RAI1	ORPHA:819
HP:0001252	Hypotonia	10743	RAI1	ORPHA:1713
HP:0001252	Hypotonia	10743	RAI1	OMIM:182290
HP:0001252	Hypotonia	10522	DEAF1	ORPHA:819
HP:0001252	Hypotonia	10522	DEAF1	OMIM:615828
HP:0001252	Hypotonia	10522	DEAF1	OMIM:617171
HP:0001252	Hypotonia	1717	DHCR7	ORPHA:818
HP:0001252	Hypotonia	1717	DHCR7	OMIM:270400
HP:0001252	Hypotonia	4758	NEU1	ORPHA:812
HP:0001252	Hypotonia	4758	NEU1	ORPHA:93400
HP:0001252	Hypotonia	4758	NEU1	OMIM:256550
HP:0001252	Hypotonia	150468	CKAP2L	ORPHA:3255
HP:0001252	Hypotonia	5979	RET	ORPHA:99803
HP:0001252	Hypotonia	5979	RET	OMIM:162300
HP:0001252	Hypotonia	429	ASCL1	ORPHA:99803
HP:0001252	Hypotonia	8929	PHOX2B	ORPHA:99803
HP:0001252	Hypotonia	8929	PHOX2B	ORPHA:661
HP:0001252	Hypotonia	29072	SETD2	OMIM:620155
HP:0001252	Hypotonia	26153	KIF26A	OMIM:620156
HP:0001252	Hypotonia	9382	COG1	OMIM:611209
HP:0001252	Hypotonia	7125	TNNC2	OMIM:620161
HP:0001252	Hypotonia	1272	CNTN1	OMIM:612540
HP:0001252	Hypotonia	55157	DARS2	ORPHA:137898
HP:0001252	Hypotonia	93627	TBCK	OMIM:616900
HP:0001252	Hypotonia	5080	PAX6	ORPHA:1065
HP:0001252	Hypotonia	3708	ITPR1	ORPHA:1065
HP:0001252	Hypotonia	3708	ITPR1	OMIM:117360
HP:0001252	Hypotonia	3708	ITPR1	OMIM:206700
HP:0001252	Hypotonia	55858	TMEM165	OMIM:614727
HP:0001252	Hypotonia	3778	KCNMA1	OMIM:609446
HP:0001252	Hypotonia	9570	GOSR2	OMIM:620166
HP:0001252	Hypotonia	64087	MCCC2	OMIM:210210
HP:0001252	Hypotonia	64087	MCCC2	ORPHA:6
HP:0001252	Hypotonia	546	ATRX	ORPHA:847
HP:0001252	Hypotonia	546	ATRX	OMIM:301040
HP:0001252	Hypotonia	54675	CRLS1	OMIM:620167
HP:0001252	Hypotonia	222663	SCUBE3	OMIM:619184
HP:0001252	Hypotonia	9184	BUB3	ORPHA:1052
HP:0001252	Hypotonia	699	BUB1	ORPHA:1052
HP:0001252	Hypotonia	9702	CEP57	ORPHA:1052
HP:0001252	Hypotonia	9702	CEP57	OMIM:614114
HP:0001252	Hypotonia	9319	TRIP13	ORPHA:1052
HP:0001252	Hypotonia	701	BUB1B	ORPHA:1052
HP:0001252	Hypotonia	23036	ZNF292	OMIM:619188
HP:0001252	Hypotonia	55148	UBR7	OMIM:619189
HP:0001252	Hypotonia	1591	CYP24A1	OMIM:143880
HP:0001252	Hypotonia	23545	ATP6V0A2	OMIM:278250
HP:0001252	Hypotonia	23545	ATP6V0A2	OMIM:219200
HP:0001252	Hypotonia	11284	PNKP	OMIM:613402
HP:0001252	Hypotonia	4915	NTRK2	OMIM:613886
HP:0001252	Hypotonia	56922	MCCC1	OMIM:210200
HP:0001252	Hypotonia	56922	MCCC1	ORPHA:6
HP:0001252	Hypotonia	63894	VIPAS39	OMIM:613404
HP:0001252	Hypotonia	25942	SIN3A	OMIM:613406
HP:0001252	Hypotonia	25942	SIN3A	ORPHA:94065
HP:0001252	Hypotonia	79053	ALG8	OMIM:608104
HP:0001252	Hypotonia	79053	ALG8	ORPHA:79325
HP:0001252	Hypotonia	84947	SERAC1	OMIM:614739
HP:0001252	Hypotonia	113278	SLC52A3	OMIM:211530
HP:0001252	Hypotonia	9653	HS2ST1	OMIM:619194
HP:0001252	Hypotonia	3769	KCNJ13	ORPHA:65
HP:0001252	Hypotonia	343035	RD3	ORPHA:65
HP:0001252	Hypotonia	145226	RDH12	ORPHA:65
HP:0001252	Hypotonia	1406	CRX	ORPHA:65
HP:0001252	Hypotonia	57096	RPGRIP1	ORPHA:65
HP:0001252	Hypotonia	80184	CEP290	ORPHA:65
HP:0001252	Hypotonia	80184	CEP290	ORPHA:2318
HP:0001252	Hypotonia	80184	CEP290	OMIM:610188
HP:0001252	Hypotonia	10383	TUBB4B	ORPHA:65
HP:0001252	Hypotonia	9742	IFT140	ORPHA:65
HP:0001252	Hypotonia	9742	IFT140	OMIM:266920
HP:0001252	Hypotonia	85015	USP45	ORPHA:65
HP:0001252	Hypotonia	6121	RPE65	ORPHA:65
HP:0001252	Hypotonia	23418	CRB1	ORPHA:65
HP:0001252	Hypotonia	5130	PCYT1A	ORPHA:65
HP:0001252	Hypotonia	9657	IQCB1	ORPHA:65
HP:0001252	Hypotonia	392255	GDF6	ORPHA:65
HP:0001252	Hypotonia	23746	AIPL1	ORPHA:65
HP:0001252	Hypotonia	3000	GUCY2D	ORPHA:65
HP:0001252	Hypotonia	9227	LRAT	ORPHA:65
HP:0001252	Hypotonia	55812	SPATA7	ORPHA:65
HP:0001252	Hypotonia	7287	TULP1	ORPHA:65
HP:0001252	Hypotonia	167691	LCA5	ORPHA:65
HP:0001252	Hypotonia	3614	IMPDH1	ORPHA:65
HP:0001252	Hypotonia	7025	NR2F1	ORPHA:401777
HP:0001252	Hypotonia	7025	NR2F1	OMIM:615722
HP:0001252	Hypotonia	51660	MPC1	OMIM:614741
HP:0001252	Hypotonia	64327	LMBR1	ORPHA:2378
HP:0001252	Hypotonia	84720	PIGO	OMIM:614749
HP:0001252	Hypotonia	11128	POLR3A	OMIM:264090
HP:0001252	Hypotonia	3675	ITGA3	OMIM:614748
HP:0001252	Hypotonia	5649	RELN	OMIM:257320
HP:0001252	Hypotonia	55719	SLF2	OMIM:620184
HP:0001252	Hypotonia	55343	SLC35C1	OMIM:266265
HP:0001252	Hypotonia	79759	ZNF668	OMIM:620194
HP:0001252	Hypotonia	283209	PGM2L1	OMIM:620191
HP:0001252	Hypotonia	1737	DLAT	OMIM:245348
HP:0001252	Hypotonia	492	ATP2B3	OMIM:302500
HP:0001252	Hypotonia	3251	HPRT1	OMIM:300322
HP:0001252	Hypotonia	4784	NFIX	OMIM:614753
HP:0001252	Hypotonia	4784	NFIX	OMIM:602535
HP:0001252	Hypotonia	182	JAG1	OMIM:118450
HP:0001252	Hypotonia	182	JAG1	OMIM:619574
HP:0001252	Hypotonia	388015	RTL1	ORPHA:96334
HP:0001252	Hypotonia	388015	RTL1	ORPHA:254531
HP:0001252	Hypotonia	388015	RTL1	ORPHA:254534
HP:0001252	Hypotonia	388015	RTL1	ORPHA:254525
HP:0001252	Hypotonia	388015	RTL1	ORPHA:254528
HP:0001252	Hypotonia	388015	RTL1	ORPHA:96184
HP:0001252	Hypotonia	8788	DLK1	ORPHA:96334
HP:0001252	Hypotonia	8788	DLK1	ORPHA:254531
HP:0001252	Hypotonia	8788	DLK1	ORPHA:254534
HP:0001252	Hypotonia	8788	DLK1	ORPHA:254525
HP:0001252	Hypotonia	8788	DLK1	ORPHA:254528
HP:0001252	Hypotonia	8788	DLK1	ORPHA:96184
HP:0001252	Hypotonia	55384	MEG3	ORPHA:96334
HP:0001252	Hypotonia	55384	MEG3	ORPHA:254531
HP:0001252	Hypotonia	55384	MEG3	ORPHA:254534
HP:0001252	Hypotonia	55384	MEG3	ORPHA:254525
HP:0001252	Hypotonia	55384	MEG3	ORPHA:254528
HP:0001252	Hypotonia	55384	MEG3	ORPHA:96184
HP:0001252	Hypotonia	34	ACADM	ORPHA:42
HP:0001252	Hypotonia	34	ACADM	OMIM:201450
HP:0001252	Hypotonia	3977	LIFR	ORPHA:3206
HP:0001252	Hypotonia	3977	LIFR	OMIM:601559
HP:0001252	Hypotonia	1374	CPT1A	OMIM:255120
HP:0001252	Hypotonia	1374	CPT1A	ORPHA:156
HP:0001252	Hypotonia	6611	SMS	OMIM:309583
HP:0001252	Hypotonia	6509	SLC1A4	ORPHA:447997
HP:0001252	Hypotonia	6509	SLC1A4	OMIM:616657
HP:0001252	Hypotonia	23479	ISCU	OMIM:255125
HP:0001252	Hypotonia	171023	ASXL1	OMIM:605039
HP:0001252	Hypotonia	65125	WNK1	OMIM:201300
HP:0001252	Hypotonia	54463	RETREG1	OMIM:201300
HP:0001252	Hypotonia	6335	SCN9A	OMIM:201300
HP:0001252	Hypotonia	6335	SCN9A	ORPHA:36387
HP:0001252	Hypotonia	547	KIF1A	OMIM:201300
HP:0001252	Hypotonia	22907	DHX30	OMIM:617804
HP:0001252	Hypotonia	7407	VARS1	OMIM:617802
HP:0001252	Hypotonia	9894	TELO2	OMIM:616954
HP:0001252	Hypotonia	57724	EPG5	ORPHA:1493
HP:0001252	Hypotonia	57724	EPG5	OMIM:242840
HP:0001252	Hypotonia	9230	RAB11B	OMIM:617807
HP:0001252	Hypotonia	56052	ALG1	OMIM:608540
HP:0001252	Hypotonia	56052	ALG1	ORPHA:79327
HP:0001252	Hypotonia	8518	ELP1	OMIM:223900
HP:0001252	Hypotonia	8518	ELP1	ORPHA:1764
HP:0001252	Hypotonia	3033	HADH	OMIM:231530
HP:0001252	Hypotonia	3033	HADH	OMIM:609975
HP:0001252	Hypotonia	8733	GPAA1	OMIM:617810
HP:0001252	Hypotonia	6569	SLC34A1	OMIM:616963
HP:0001252	Hypotonia	132	ADK	OMIM:614300
HP:0001252	Hypotonia	2290	FOXG1	OMIM:613454
HP:0001252	Hypotonia	2290	FOXG1	ORPHA:261144
HP:0001252	Hypotonia	79848	CSPP1	OMIM:615636
HP:0001252	Hypotonia	79848	CSPP1	ORPHA:475
HP:0001252	Hypotonia	9759	HDAC4	ORPHA:1001
HP:0001252	Hypotonia	9759	HDAC4	OMIM:619797
HP:0001252	Hypotonia	11133	KPTN	OMIM:615637
HP:0001252	Hypotonia	11133	KPTN	ORPHA:397612
HP:0001252	Hypotonia	6334	SCN8A	OMIM:614306
HP:0001252	Hypotonia	6334	SCN8A	OMIM:614558
HP:0001252	Hypotonia	91147	TMEM67	OMIM:216360
HP:0001252	Hypotonia	91147	TMEM67	ORPHA:1454
HP:0001252	Hypotonia	91147	TMEM67	OMIM:610688
HP:0001252	Hypotonia	91147	TMEM67	ORPHA:475
HP:0001252	Hypotonia	3074	HEXB	OMIM:268800
HP:0001252	Hypotonia	27034	ACAD8	OMIM:611283
HP:0001252	Hypotonia	27034	ACAD8	ORPHA:79159
HP:0001252	Hypotonia	1806	DPYD	OMIM:274270
HP:0001252	Hypotonia	54931	TRMT10C	OMIM:616974
HP:0001252	Hypotonia	2902	GRIN1	OMIM:617820
HP:0001252	Hypotonia	2902	GRIN1	OMIM:614254
HP:0001252	Hypotonia	2902	GRIN1	OMIM:619814
HP:0001252	Hypotonia	2782	GNB1	OMIM:616973
HP:0001252	Hypotonia	8085	KMT2D	ORPHA:2322
HP:0001252	Hypotonia	8085	KMT2D	OMIM:147920
HP:0001252	Hypotonia	7403	KDM6A	ORPHA:2322
HP:0001252	Hypotonia	7403	KDM6A	OMIM:300867
HP:0001252	Hypotonia	7403	KDM6A	OMIM:147920
HP:0001252	Hypotonia	3097	HIVEP2	OMIM:616977
HP:0001252	Hypotonia	6638	SNRPN	ORPHA:177904
HP:0001252	Hypotonia	6638	SNRPN	ORPHA:177901
HP:0001252	Hypotonia	6638	SNRPN	OMIM:105830
HP:0001252	Hypotonia	6638	SNRPN	ORPHA:98754
HP:0001252	Hypotonia	4692	NDN	ORPHA:177904
HP:0001252	Hypotonia	4692	NDN	ORPHA:177901
HP:0001252	Hypotonia	4692	NDN	ORPHA:98754
HP:0001252	Hypotonia	54551	MAGEL2	ORPHA:177904
HP:0001252	Hypotonia	54551	MAGEL2	ORPHA:177901
HP:0001252	Hypotonia	54551	MAGEL2	ORPHA:98754
HP:0001252	Hypotonia	4948	OCA2	ORPHA:177904
HP:0001252	Hypotonia	4948	OCA2	ORPHA:177901
HP:0001252	Hypotonia	4948	OCA2	ORPHA:98754
HP:0001252	Hypotonia	2332	FMR1	ORPHA:449291
HP:0001252	Hypotonia	2332	FMR1	ORPHA:261483
HP:0001252	Hypotonia	2332	FMR1	ORPHA:908
HP:0001252	Hypotonia	55906	ZC4H2	OMIM:314580
HP:0001252	Hypotonia	23732	FRRS1L	OMIM:616981
HP:0001252	Hypotonia	388753	COA6	OMIM:616501
HP:0001252	Hypotonia	2068	ERCC2	ORPHA:1466
HP:0001252	Hypotonia	2067	ERCC1	ORPHA:1466
HP:0001252	Hypotonia	2074	ERCC6	ORPHA:1466
HP:0001252	Hypotonia	2074	ERCC6	ORPHA:90321
HP:0001252	Hypotonia	2074	ERCC6	OMIM:214150
HP:0001252	Hypotonia	2073	ERCC5	ORPHA:1466
HP:0001252	Hypotonia	6709	SPTAN1	OMIM:613477
HP:0001252	Hypotonia	6709	SPTAN1	OMIM:620528
HP:0001252	Hypotonia	6709	SPTAN1	OMIM:620540
HP:0001252	Hypotonia	4358	MPV17	OMIM:256810
HP:0001252	Hypotonia	6663	SOX10	ORPHA:163746
HP:0001252	Hypotonia	6663	SOX10	OMIM:609136
HP:0001252	Hypotonia	6663	SOX10	ORPHA:478
HP:0001252	Hypotonia	91137	SLC25A46	OMIM:616505
HP:0001252	Hypotonia	91137	SLC25A46	ORPHA:2254
HP:0001252	Hypotonia	9378	NRXN1	OMIM:614325
HP:0001252	Hypotonia	6678	SPARC	OMIM:616507
HP:0001252	Hypotonia	79583	TMEM231	ORPHA:2318
HP:0001252	Hypotonia	79583	TMEM231	ORPHA:2754
HP:0001252	Hypotonia	51524	TMEM138	ORPHA:2318
HP:0001252	Hypotonia	23090	ZNF423	ORPHA:2318
HP:0001252	Hypotonia	57545	CC2D2A	ORPHA:2318
HP:0001252	Hypotonia	57545	CC2D2A	ORPHA:1454
HP:0001252	Hypotonia	197131	UBR1	ORPHA:2315
HP:0001252	Hypotonia	197131	UBR1	OMIM:243800
HP:0001252	Hypotonia	4982	TNFRSF11B	OMIM:239000
HP:0001252	Hypotonia	6792	CDKL5	ORPHA:505652
HP:0001252	Hypotonia	6792	CDKL5	ORPHA:3095
HP:0001252	Hypotonia	6792	CDKL5	OMIM:300672
HP:0001252	Hypotonia	4854	NOTCH3	ORPHA:2789
HP:0001252	Hypotonia	4854	NOTCH3	OMIM:130720
HP:0001252	Hypotonia	326625	MMAB	OMIM:251110
HP:0001252	Hypotonia	9361	LONP1	ORPHA:1458
HP:0001252	Hypotonia	9361	LONP1	OMIM:600373
HP:0001252	Hypotonia	9361	LONP1	ORPHA:79243
HP:0001252	Hypotonia	10367	MICU1	OMIM:615673
HP:0001252	Hypotonia	6812	STXBP1	OMIM:612164
HP:0001252	Hypotonia	6812	STXBP1	ORPHA:599373
HP:0001252	Hypotonia	55180	LINS1	OMIM:614340
HP:0001252	Hypotonia	1213	CLTC	OMIM:617854
HP:0001252	Hypotonia	85440	DOCK7	ORPHA:411986
HP:0001252	Hypotonia	85440	DOCK7	OMIM:615859
HP:0001252	Hypotonia	28514	DLL1	OMIM:618709
HP:0001252	Hypotonia	6134	RPL10	ORPHA:435938
HP:0001252	Hypotonia	6134	RPL10	OMIM:300998
HP:0001252	Hypotonia	122553	TRAPPC6B	OMIM:617862
HP:0001252	Hypotonia	57688	ZSWIM6	OMIM:617865
HP:0001252	Hypotonia	57570	TRMT5	OMIM:616539
HP:0001252	Hypotonia	60482	SLC5A7	ORPHA:98914
HP:0001252	Hypotonia	60482	SLC5A7	OMIM:617143
HP:0001252	Hypotonia	4649	MYO9A	ORPHA:98914
HP:0001252	Hypotonia	1305	COL13A1	ORPHA:98914
HP:0001252	Hypotonia	1305	COL13A1	OMIM:616720
HP:0001252	Hypotonia	1103	CHAT	ORPHA:98914
HP:0001252	Hypotonia	6576	SLC25A1	ORPHA:98914
HP:0001252	Hypotonia	6576	SLC25A1	OMIM:615182
HP:0001252	Hypotonia	375790	AGRN	ORPHA:98914
HP:0001252	Hypotonia	127833	SYT2	ORPHA:98914
HP:0001252	Hypotonia	127833	SYT2	OMIM:619461
HP:0001252	Hypotonia	6572	SLC18A3	ORPHA:98914
HP:0001252	Hypotonia	6572	SLC18A3	OMIM:617239
HP:0001252	Hypotonia	6616	SNAP25	ORPHA:98914
HP:0001252	Hypotonia	1605	DAG1	OMIM:616538
HP:0001252	Hypotonia	1605	DAG1	ORPHA:899
HP:0001252	Hypotonia	5261	PHKG2	OMIM:613027
HP:0001252	Hypotonia	5261	PHKG2	ORPHA:264580
HP:0001252	Hypotonia	8292	COLQ	ORPHA:98915
HP:0001252	Hypotonia	8292	COLQ	OMIM:603034
HP:0001252	Hypotonia	3913	LAMB2	ORPHA:98915
HP:0001252	Hypotonia	3913	LAMB2	OMIM:609049
HP:0001252	Hypotonia	139285	AMER1	OMIM:300373
HP:0001252	Hypotonia	51	ACOX1	OMIM:264470
HP:0001252	Hypotonia	51	ACOX1	ORPHA:2971
HP:0001252	Hypotonia	10577	NPC2	OMIM:607625
HP:0001252	Hypotonia	650	BMP2	OMIM:617877
HP:0001252	Hypotonia	650	BMP2	ORPHA:261295
HP:0001252	Hypotonia	4724	NDUFS4	OMIM:252010
HP:0001252	Hypotonia	4724	NDUFS4	ORPHA:2609
HP:0001252	Hypotonia	8777	MPDZ	OMIM:615219
HP:0001252	Hypotonia	5449	POU1F1	OMIM:613038
HP:0001252	Hypotonia	5449	POU1F1	ORPHA:226307
HP:0001252	Hypotonia	6496	SIX3	OMIM:157170
HP:0001252	Hypotonia	10210	TOPORS	ORPHA:2754
HP:0001252	Hypotonia	9851	KIAA0753	ORPHA:2754
HP:0001252	Hypotonia	9851	KIAA0753	OMIM:619476
HP:0001252	Hypotonia	9851	KIAA0753	OMIM:619479
HP:0001252	Hypotonia	9851	KIAA0753	ORPHA:475
HP:0001252	Hypotonia	26123	TCTN3	ORPHA:2754
HP:0001252	Hypotonia	26123	TCTN3	ORPHA:475
HP:0001252	Hypotonia	5147	PDE6D	ORPHA:2754
HP:0001252	Hypotonia	5147	PDE6D	ORPHA:475
HP:0001252	Hypotonia	65250	CPLANE1	ORPHA:2754
HP:0001252	Hypotonia	65250	CPLANE1	OMIM:277170
HP:0001252	Hypotonia	65250	CPLANE1	ORPHA:475
HP:0001252	Hypotonia	8481	OFD1	ORPHA:2754
HP:0001252	Hypotonia	8481	OFD1	OMIM:300804
HP:0001252	Hypotonia	8481	OFD1	ORPHA:475
HP:0001252	Hypotonia	8481	OFD1	OMIM:300209
HP:0001252	Hypotonia	317662	FAM149B1	ORPHA:2754
HP:0001252	Hypotonia	374654	KIF7	ORPHA:2754
HP:0001252	Hypotonia	374654	KIF7	OMIM:200990
HP:0001252	Hypotonia	2182	ACSL4	OMIM:300387
HP:0001252	Hypotonia	2182	ACSL4	ORPHA:86818
HP:0001252	Hypotonia	64221	ROBO3	ORPHA:2744
HP:0001252	Hypotonia	1630	DCC	ORPHA:2744
HP:0001252	Hypotonia	1630	DCC	OMIM:617542
HP:0001252	Hypotonia	1630	DCC	ORPHA:478
HP:0001252	Hypotonia	51763	INPP5K	OMIM:617404
HP:0001252	Hypotonia	523	ATP6V1A	OMIM:617403
HP:0001252	Hypotonia	523	ATP6V1A	OMIM:618012
HP:0001252	Hypotonia	3636	INPPL1	ORPHA:2746
HP:0001252	Hypotonia	3636	INPPL1	OMIM:258480
HP:0001252	Hypotonia	529	ATP6V1E1	OMIM:617402
HP:0001252	Hypotonia	246329	STAC3	OMIM:255995
HP:0001252	Hypotonia	246329	STAC3	ORPHA:168572
HP:0001252	Hypotonia	1278	COL1A2	ORPHA:1899
HP:0001252	Hypotonia	7528	YY1	ORPHA:506358
HP:0001252	Hypotonia	7528	YY1	OMIM:617557
HP:0001252	Hypotonia	10617	STAMBP	OMIM:614261
HP:0001252	Hypotonia	8367	H4C5	OMIM:619950
HP:0001252	Hypotonia	8294	H4C9	OMIM:619951
HP:0001252	Hypotonia	57128	LYRM4	OMIM:615595
HP:0001252	Hypotonia	5728	PTEN	OMIM:605309
HP:0001252	Hypotonia	5728	PTEN	ORPHA:210548
HP:0001252	Hypotonia	5728	PTEN	ORPHA:109
HP:0001252	Hypotonia	9853	RUSC2	OMIM:617773
HP:0001252	Hypotonia	3703	STT3A	OMIM:615596
HP:0001252	Hypotonia	343450	KCNT2	OMIM:617771
HP:0001252	Hypotonia	27247	NFU1	OMIM:620938
HP:0001252	Hypotonia	201595	STT3B	OMIM:615597
HP:0001252	Hypotonia	1947	EFNB1	ORPHA:1520
HP:0001252	Hypotonia	1947	EFNB1	OMIM:304110
HP:0001252	Hypotonia	1355	COX15	OMIM:615119
HP:0001252	Hypotonia	55627	SMPD4	OMIM:618622
HP:0001252	Hypotonia	23417	MLYCD	OMIM:248360
HP:0001252	Hypotonia	81857	MED25	OMIM:616449
HP:0001252	Hypotonia	81857	MED25	ORPHA:464738
HP:0001252	Hypotonia	22800	RRAS2	OMIM:618624
HP:0001252	Hypotonia	22800	RRAS2	ORPHA:648
HP:0001252	Hypotonia	55733	HHAT	OMIM:600092
HP:0001252	Hypotonia	4047	LSS	ORPHA:2850
HP:0001252	Hypotonia	197	AHSG	ORPHA:2850
HP:0001252	Hypotonia	3694	ITGB6	ORPHA:2850
HP:0001252	Hypotonia	2072	ERCC4	ORPHA:90321
HP:0001252	Hypotonia	65267	WNK3	OMIM:309610
HP:0001252	Hypotonia	790	CAD	OMIM:616457
HP:0001252	Hypotonia	65082	VPS33A	OMIM:617303
HP:0001252	Hypotonia	65082	VPS33A	ORPHA:505248
HP:0001252	Hypotonia	526	ATP6V1B2	OMIM:616455
HP:0001252	Hypotonia	10730	YME1L1	OMIM:617302
HP:0001252	Hypotonia	54681	P4HTM	ORPHA:436141
HP:0001252	Hypotonia	129563	DIS3L2	ORPHA:2849
HP:0001252	Hypotonia	28960	DCPS	OMIM:616459
HP:0001252	Hypotonia	4286	MITF	OMIM:617306
HP:0001252	Hypotonia	9200	HACD1	OMIM:619967
HP:0001252	Hypotonia	9200	HACD1	ORPHA:2020
HP:0001252	Hypotonia	120227	CYP2R1	OMIM:600081
HP:0001252	Hypotonia	3908	LAMA2	ORPHA:258
HP:0001252	Hypotonia	3908	LAMA2	OMIM:607855
HP:0001252	Hypotonia	57231	SNX14	ORPHA:397709
HP:0001252	Hypotonia	57231	SNX14	OMIM:616354
HP:0001252	Hypotonia	79147	FKRP	OMIM:606612
HP:0001252	Hypotonia	79147	FKRP	ORPHA:588
HP:0001252	Hypotonia	79147	FKRP	OMIM:236670
HP:0001252	Hypotonia	79147	FKRP	ORPHA:899
HP:0001252	Hypotonia	284058	KANSL1	ORPHA:363958
HP:0001252	Hypotonia	284058	KANSL1	ORPHA:363965
HP:0001252	Hypotonia	55870	ASH1L	OMIM:617796
HP:0001252	Hypotonia	91869	RFT1	ORPHA:244310
HP:0001252	Hypotonia	91869	RFT1	OMIM:612015
HP:0001252	Hypotonia	816	CAMK2B	OMIM:617799
HP:0001252	Hypotonia	815	CAMK2A	OMIM:617798
HP:0001252	Hypotonia	815	CAMK2A	OMIM:618095
HP:0001252	Hypotonia	1289	COL5A1	ORPHA:287
HP:0001252	Hypotonia	1290	COL5A2	ORPHA:287
HP:0001252	Hypotonia	5354	PLP1	ORPHA:280210
HP:0001252	Hypotonia	5354	PLP1	ORPHA:280219
HP:0001252	Hypotonia	5354	PLP1	ORPHA:280229
HP:0001252	Hypotonia	5354	PLP1	OMIM:312080
HP:0001252	Hypotonia	10815	CPLX1	ORPHA:280
HP:0001252	Hypotonia	10815	CPLX1	OMIM:617976
HP:0001252	Hypotonia	54872	PIGG	ORPHA:280
HP:0001252	Hypotonia	54872	PIGG	ORPHA:488635
HP:0001252	Hypotonia	7469	NELFA	ORPHA:280
HP:0001252	Hypotonia	1487	CTBP1	ORPHA:280
HP:0001252	Hypotonia	1487	CTBP1	OMIM:617915
HP:0001252	Hypotonia	3954	LETM1	ORPHA:280
HP:0001252	Hypotonia	3954	LETM1	OMIM:620089
HP:0001252	Hypotonia	1303	COL12A1	OMIM:616471
HP:0001252	Hypotonia	1303	COL12A1	ORPHA:536516
HP:0001252	Hypotonia	283987	HID1	OMIM:619983
HP:0001252	Hypotonia	1656	DDX6	OMIM:618653
HP:0001252	Hypotonia	1501	CTNND2	ORPHA:281
HP:0001252	Hypotonia	9037	SEMA5A	ORPHA:281
HP:0001252	Hypotonia	497661	C18orf32	OMIM:619985
HP:0001252	Hypotonia	57178	ZMIZ1	OMIM:618659
HP:0001252	Hypotonia	2783	GNB2	OMIM:619503
HP:0001252	Hypotonia	8642	DCHS1	OMIM:601390
HP:0001252	Hypotonia	8241	RBM10	OMIM:311900
HP:0001252	Hypotonia	3981	LIG4	ORPHA:235
HP:0001252	Hypotonia	54888	NSUN2	ORPHA:235
HP:0001252	Hypotonia	54888	NSUN2	OMIM:611091
HP:0001252	Hypotonia	1621	DBH	ORPHA:230
HP:0001252	Hypotonia	1621	DBH	OMIM:223360
HP:0001252	Hypotonia	56006	SMG9	OMIM:619995
HP:0001252	Hypotonia	1182	CLCN3	OMIM:619512
HP:0001252	Hypotonia	84879	MFSD2A	OMIM:616486
HP:0001252	Hypotonia	6329	SCN4A	OMIM:170400
HP:0001252	Hypotonia	6329	SCN4A	OMIM:620351
HP:0001252	Hypotonia	6329	SCN4A	OMIM:620369
HP:0001252	Hypotonia	7862	BRPF1	OMIM:617333
HP:0001252	Hypotonia	54914	FOCAD	OMIM:619991
HP:0001252	Hypotonia	55699	IARS2	OMIM:616007
HP:0001252	Hypotonia	3481	IGF2	OMIM:616489
HP:0001252	Hypotonia	2550	GABBR1	OMIM:620502
HP:0001252	Hypotonia	4191	MDH2	OMIM:617339
HP:0001252	Hypotonia	7337	UBE3A	OMIM:105830
HP:0001252	Hypotonia	7337	UBE3A	ORPHA:238446
HP:0001252	Hypotonia	166785	MMAA	OMIM:251100
HP:0001252	Hypotonia	5551	PRF1	OMIM:603553
HP:0001252	Hypotonia	8676	STX11	OMIM:603552
HP:0001252	Hypotonia	26137	ZBTB20	OMIM:259050
HP:0001252	Hypotonia	7750	ZMYM2	OMIM:619522
HP:0001252	Hypotonia	4849	CNOT3	OMIM:618672
HP:0001252	Hypotonia	22	ABCB7	ORPHA:2802
HP:0001252	Hypotonia	22	ABCB7	OMIM:301310
HP:0001252	Hypotonia	2542	SLC37A4	OMIM:619525
HP:0001252	Hypotonia	57466	SCAF4	OMIM:620511
HP:0001252	Hypotonia	57492	ARID1B	ORPHA:251056
HP:0001252	Hypotonia	57492	ARID1B	OMIM:135900
HP:0001252	Hypotonia	57104	PNPLA2	OMIM:610717
HP:0001252	Hypotonia	3835	KIF22	OMIM:603546
HP:0001252	Hypotonia	79989	IFT56	OMIM:619534
HP:0001252	Hypotonia	2006	ELN	ORPHA:90348
HP:0001252	Hypotonia	2006	ELN	OMIM:194050
HP:0001252	Hypotonia	2006	ELN	ORPHA:904
HP:0001252	Hypotonia	10516	FBLN5	ORPHA:90348
HP:0001252	Hypotonia	10516	FBLN5	OMIM:219100
HP:0001252	Hypotonia	5832	ALDH18A1	ORPHA:90348
HP:0001252	Hypotonia	5832	ALDH18A1	ORPHA:447757
HP:0001252	Hypotonia	5832	ALDH18A1	OMIM:219150
HP:0001252	Hypotonia	5832	ALDH18A1	OMIM:616603
HP:0001252	Hypotonia	3785	KCNQ2	ORPHA:439218
HP:0001252	Hypotonia	3785	KCNQ2	ORPHA:293181
HP:0001252	Hypotonia	3785	KCNQ2	OMIM:613720
HP:0001252	Hypotonia	1107	CHD3	OMIM:618205
HP:0001252	Hypotonia	23189	KANK1	OMIM:612900
HP:0001252	Hypotonia	6513	SLC2A1	ORPHA:1942
HP:0001252	Hypotonia	1173	AP2M1	ORPHA:1942
HP:0001252	Hypotonia	6323	SCN1A	ORPHA:1942
HP:0001252	Hypotonia	6323	SCN1A	ORPHA:293181
HP:0001252	Hypotonia	6323	SCN1A	ORPHA:36387
HP:0001252	Hypotonia	6323	SCN1A	OMIM:619317
HP:0001252	Hypotonia	340533	NEXMIF	ORPHA:1942
HP:0001252	Hypotonia	340533	NEXMIF	OMIM:300912
HP:0001252	Hypotonia	1106	CHD2	ORPHA:1942
HP:0001252	Hypotonia	6529	SLC6A1	ORPHA:1942
HP:0001252	Hypotonia	6529	SLC6A1	OMIM:616421
HP:0001252	Hypotonia	9896	FIG4	OMIM:216340
HP:0001252	Hypotonia	9896	FIG4	ORPHA:208441
HP:0001252	Hypotonia	6595	SMARCA2	OMIM:601358
HP:0001252	Hypotonia	6595	SMARCA2	OMIM:619293
HP:0001252	Hypotonia	6261	RYR1	OMIM:619542
HP:0001252	Hypotonia	6261	RYR1	ORPHA:597
HP:0001252	Hypotonia	6261	RYR1	OMIM:255320
HP:0001252	Hypotonia	8621	CDK13	OMIM:617360
HP:0001252	Hypotonia	133686	NADK2	OMIM:616034
HP:0001252	Hypotonia	27133	KCNH5	OMIM:620537
HP:0001252	Hypotonia	11338	U2AF2	OMIM:620535
HP:0001252	Hypotonia	164	AP1G1	OMIM:619548
HP:0001252	Hypotonia	164	AP1G1	OMIM:619467
HP:0001252	Hypotonia	8905	AP1S2	OMIM:304340
HP:0001252	Hypotonia	8905	AP1S2	ORPHA:85335
HP:0001252	Hypotonia	2879	GPX4	OMIM:250220
HP:0001252	Hypotonia	3912	LAMB1	OMIM:615191
HP:0001252	Hypotonia	4728	NDUFS8	OMIM:618222
HP:0001252	Hypotonia	4728	NDUFS8	ORPHA:2609
HP:0001252	Hypotonia	4723	NDUFV1	OMIM:618225
HP:0001252	Hypotonia	4723	NDUFV1	ORPHA:2609
HP:0001252	Hypotonia	30000	TNPO2	OMIM:619556
HP:0001252	Hypotonia	498	ATP5F1A	OMIM:616045
HP:0001252	Hypotonia	498	ATP5F1A	ORPHA:254913
HP:0001252	Hypotonia	79705	LRRK1	OMIM:615198
HP:0001252	Hypotonia	57102	FERRY3	OMIM:618221
HP:0001252	Hypotonia	23314	SATB2	ORPHA:251028
HP:0001252	Hypotonia	23314	SATB2	ORPHA:251019
HP:0001252	Hypotonia	23314	SATB2	OMIM:612313
HP:0001252	Hypotonia	4719	NDUFS1	OMIM:618226
HP:0001252	Hypotonia	4719	NDUFS1	ORPHA:2609
HP:0001252	Hypotonia	55628	ZNF407	OMIM:619557
HP:0001252	Hypotonia	1756	DMD	OMIM:310200
HP:0001252	Hypotonia	4720	NDUFS2	OMIM:618228
HP:0001252	Hypotonia	4720	NDUFS2	ORPHA:2609
HP:0001252	Hypotonia	7443	VRK1	OMIM:620542
HP:0001252	Hypotonia	7443	VRK1	OMIM:607596
HP:0001252	Hypotonia	7443	VRK1	ORPHA:2254
HP:0001252	Hypotonia	81570	CLPB	ORPHA:445038
HP:0001252	Hypotonia	81570	CLPB	OMIM:619835
HP:0001252	Hypotonia	81570	CLPB	OMIM:616271
HP:0001252	Hypotonia	1908	EDN3	ORPHA:661
HP:0001252	Hypotonia	2668	GDNF	ORPHA:661
HP:0001252	Hypotonia	627	BDNF	ORPHA:661
HP:0001252	Hypotonia	10660	LBX1	ORPHA:661
HP:0001252	Hypotonia	283446	MYO1H	ORPHA:661
HP:0001252	Hypotonia	283446	MYO1H	OMIM:619482
HP:0001252	Hypotonia	5009	OTC	ORPHA:664
HP:0001252	Hypotonia	1301	COL11A1	OMIM:604841
HP:0001252	Hypotonia	91942	NDUFAF2	OMIM:618233
HP:0001252	Hypotonia	91942	NDUFAF2	ORPHA:2609
HP:0001252	Hypotonia	1387	CREBBP	ORPHA:353281
HP:0001252	Hypotonia	1387	CREBBP	ORPHA:353277
HP:0001252	Hypotonia	1387	CREBBP	OMIM:180849
HP:0001252	Hypotonia	51103	NDUFAF1	OMIM:618234
HP:0001252	Hypotonia	51103	NDUFAF1	ORPHA:2609
HP:0001252	Hypotonia	478	ATP1A3	OMIM:601338
HP:0001252	Hypotonia	478	ATP1A3	ORPHA:2131
HP:0001252	Hypotonia	79868	ALG13	OMIM:300884
HP:0001252	Hypotonia	8867	SYNJ1	OMIM:617389
HP:0001252	Hypotonia	10659	CELF2	OMIM:619561
HP:0001252	Hypotonia	3745	KCNB1	OMIM:616056
HP:0001252	Hypotonia	443	ASPA	ORPHA:314918
HP:0001252	Hypotonia	443	ASPA	ORPHA:314911
HP:0001252	Hypotonia	443	ASPA	OMIM:271900
HP:0001252	Hypotonia	2033	EP300	ORPHA:353284
HP:0001252	Hypotonia	2033	EP300	OMIM:180849
HP:0001252	Hypotonia	137682	NDUFAF6	OMIM:618239
HP:0001252	Hypotonia	9179	AP4M1	OMIM:612936
HP:0001252	Hypotonia	9179	AP4M1	ORPHA:280763
HP:0001252	Hypotonia	10166	SLC25A15	OMIM:238970
HP:0001252	Hypotonia	1741	DLG3	OMIM:300850
HP:0001252	Hypotonia	55967	NDUFA12	OMIM:618244
HP:0001252	Hypotonia	57551	TAOK1	OMIM:619575
HP:0001252	Hypotonia	4715	NDUFB9	OMIM:618245
HP:0001252	Hypotonia	4715	NDUFB9	ORPHA:2609
HP:0001252	Hypotonia	56915	EXOSC5	OMIM:619576
HP:0001252	Hypotonia	22796	COG2	OMIM:617395
HP:0001252	Hypotonia	4709	NDUFB3	OMIM:618246
HP:0001252	Hypotonia	4709	NDUFB3	ORPHA:2609
HP:0001252	Hypotonia	112939	NACC1	OMIM:617393
HP:0001252	Hypotonia	55572	FOXRED1	OMIM:618241
HP:0001252	Hypotonia	55572	FOXRED1	ORPHA:2609
HP:0001252	Hypotonia	8260	NAA10	OMIM:300855
HP:0001252	Hypotonia	8260	NAA10	OMIM:309800
HP:0001252	Hypotonia	4705	NDUFA10	OMIM:618243
HP:0001252	Hypotonia	7169	TPM2	OMIM:609285
HP:0001252	Hypotonia	7169	TPM2	ORPHA:2020
HP:0001252	Hypotonia	123263	MTFMT	OMIM:618248
HP:0001252	Hypotonia	123263	MTFMT	OMIM:614947
HP:0001252	Hypotonia	29920	PYCR2	ORPHA:481152
HP:0001252	Hypotonia	9719	ADAMTSL2	ORPHA:1901
HP:0001252	Hypotonia	9509	ADAMTS2	ORPHA:1901
HP:0001252	Hypotonia	23203	PMPCA	OMIM:213200
HP:0001252	Hypotonia	23203	PMPCA	ORPHA:1170
HP:0001252	Hypotonia	22845	DOLK	OMIM:610768
HP:0001252	Hypotonia	4864	NPC1	OMIM:257220
HP:0001252	Hypotonia	5351	PLOD1	ORPHA:1900
HP:0001252	Hypotonia	5351	PLOD1	OMIM:225400
HP:0001252	Hypotonia	55750	AGK	OMIM:212350
HP:0001252	Hypotonia	8604	SLC25A12	OMIM:612949
HP:0001252	Hypotonia	2898	GRIK2	OMIM:619580
HP:0001252	Hypotonia	80324	PUS1	OMIM:600462
HP:0001252	Hypotonia	80324	PUS1	ORPHA:2598
HP:0001252	Hypotonia	112812	FDX2	OMIM:251900
HP:0001252	Hypotonia	9496	TBX4	ORPHA:261279
HP:0001252	Hypotonia	51300	TIMMDC1	OMIM:618251
HP:0001252	Hypotonia	51300	TIMMDC1	ORPHA:2609
HP:0001252	Hypotonia	80173	IFT74	OMIM:619582
HP:0001252	Hypotonia	80173	IFT74	ORPHA:475
HP:0001252	Hypotonia	5277	PIGA	OMIM:300868
HP:0001252	Hypotonia	5277	PIGA	ORPHA:293181
HP:0001252	Hypotonia	5277	PIGA	OMIM:301072
HP:0001252	Hypotonia	26040	SETBP1	OMIM:616078
HP:0001252	Hypotonia	2475	MTOR	ORPHA:457485
HP:0001252	Hypotonia	6023	RMRP	OMIM:607095
HP:0001252	Hypotonia	6023	RMRP	ORPHA:175
HP:0001252	Hypotonia	5250	SLC25A3	OMIM:610773
HP:0001252	Hypotonia	5250	SLC25A3	ORPHA:91130
HP:0001252	Hypotonia	2683	B4GALT1	OMIM:607091
HP:0001252	Hypotonia	4990	SIX6	OMIM:206900
HP:0001252	Hypotonia	6657	SOX2	OMIM:206900
HP:0001252	Hypotonia	10771	ZMYND11	OMIM:616083
HP:0001252	Hypotonia	139411	PTCHD1	OMIM:300830
HP:0001252	Hypotonia	57003	CCDC47	OMIM:618268
HP:0001252	Hypotonia	51095	TRNT1	OMIM:616084
HP:0001252	Hypotonia	10847	SRCAP	OMIM:619595
HP:0001252	Hypotonia	55526	DHTKD1	OMIM:204750
HP:0001252	Hypotonia	4983	OPHN1	ORPHA:137831
HP:0001252	Hypotonia	1836	SLC26A2	ORPHA:628
HP:0001252	Hypotonia	113189	CHST14	OMIM:601776
HP:0001252	Hypotonia	6197	RPS6KA3	OMIM:300844
HP:0001252	Hypotonia	6197	RPS6KA3	ORPHA:276630
HP:0001252	Hypotonia	6197	RPS6KA3	OMIM:303600
HP:0001252	Hypotonia	6197	RPS6KA3	ORPHA:192
HP:0001252	Hypotonia	23287	AGTPBP1	OMIM:618276
HP:0001252	Hypotonia	23287	AGTPBP1	ORPHA:2254
HP:0001252	Hypotonia	118924	FRA10AC1	OMIM:620113
HP:0001252	Hypotonia	8911	CACNA1I	OMIM:620114
HP:0001252	Hypotonia	11014	KDELR2	OMIM:619131
HP:0001252	Hypotonia	4781	NFIB	OMIM:618286
HP:0001252	Hypotonia	4668	NAGA	OMIM:609241
HP:0001252	Hypotonia	4668	NAGA	ORPHA:79279
HP:0001252	Hypotonia	9487	PIGL	OMIM:280000
HP:0001252	Hypotonia	867	CBL	ORPHA:648
HP:0001252	Hypotonia	867	CBL	OMIM:613563
HP:0001252	Hypotonia	8216	LZTR1	ORPHA:648
HP:0001252	Hypotonia	6016	RIT1	ORPHA:648
HP:0001252	Hypotonia	6237	RRAS	ORPHA:648
HP:0001252	Hypotonia	5894	RAF1	ORPHA:648
HP:0001252	Hypotonia	22808	MRAS	ORPHA:648
HP:0001252	Hypotonia	22808	MRAS	OMIM:618499
HP:0001252	Hypotonia	3845	KRAS	ORPHA:648
HP:0001252	Hypotonia	3845	KRAS	ORPHA:3339
HP:0001252	Hypotonia	3845	KRAS	ORPHA:144
HP:0001252	Hypotonia	3845	KRAS	ORPHA:2612
HP:0001252	Hypotonia	3845	KRAS	ORPHA:1340
HP:0001252	Hypotonia	200734	SPRED2	ORPHA:648
HP:0001252	Hypotonia	200734	SPRED2	OMIM:619745
HP:0001252	Hypotonia	4893	NRAS	ORPHA:648
HP:0001252	Hypotonia	4893	NRAS	ORPHA:2612
HP:0001252	Hypotonia	6654	SOS1	ORPHA:648
HP:0001252	Hypotonia	6655	SOS2	ORPHA:648
HP:0001252	Hypotonia	5781	PTPN11	ORPHA:648
HP:0001252	Hypotonia	5922	RASA2	ORPHA:648
HP:0001252	Hypotonia	4693	NDP	ORPHA:649
HP:0001252	Hypotonia	1719	DHFR	OMIM:613839
HP:0001252	Hypotonia	84153	RNASEH2C	OMIM:610329
HP:0001252	Hypotonia	5727	PTCH1	ORPHA:77301
HP:0001252	Hypotonia	1795	DOCK3	OMIM:618292
HP:0001252	Hypotonia	5257	PHKB	OMIM:261750
HP:0001252	Hypotonia	5257	PHKB	ORPHA:79240
HP:0001252	Hypotonia	3735	KARS1	OMIM:619147
HP:0001252	Hypotonia	27161	AGO2	OMIM:619149
HP:0001252	Hypotonia	8665	EIF3F	OMIM:618295
HP:0001252	Hypotonia	221692	PHACTR1	OMIM:618298
HP:0001252	Hypotonia	9131	AIFM1	OMIM:300816
HP:0001252	Hypotonia	132001	TAMM41	OMIM:620139
HP:0001252	Hypotonia	54938	SARS2	OMIM:613845
HP:0001252	Hypotonia	26275	HIBCH	OMIM:250620
HP:0001252	Hypotonia	26275	HIBCH	ORPHA:88639
HP:0001252	Hypotonia	50640	PNPLA8	OMIM:251950
HP:0001252	Hypotonia	4594	MMUT	ORPHA:289916
HP:0001252	Hypotonia	4594	MMUT	OMIM:251000
HP:0001252	Hypotonia	4594	MMUT	ORPHA:79312
HP:0001252	Hypotonia	4359	MPZ	OMIM:618184
HP:0001252	Hypotonia	4359	MPZ	OMIM:145900
HP:0001252	Hypotonia	58499	ZNF462	ORPHA:502430
HP:0001252	Hypotonia	79717	PPCS	OMIM:618189
HP:0001252	Hypotonia	10491	CRTAP	ORPHA:2050
HP:0001252	Hypotonia	9871	SEC24D	ORPHA:2050
HP:0001252	Hypotonia	9871	SEC24D	OMIM:616294
HP:0001252	Hypotonia	5034	P4HB	ORPHA:2050
HP:0001252	Hypotonia	95	ACY1	ORPHA:137754
HP:0001252	Hypotonia	95	ACY1	OMIM:609924
HP:0001252	Hypotonia	7109	TRAPPC10	OMIM:620027
HP:0001252	Hypotonia	55325	UFSP2	OMIM:620028
HP:0001252	Hypotonia	6326	SCN2A	ORPHA:293181
HP:0001252	Hypotonia	6326	SCN2A	ORPHA:36387
HP:0001252	Hypotonia	57468	SLC12A5	ORPHA:293181
HP:0001252	Hypotonia	23236	PLCB1	ORPHA:293181
HP:0001252	Hypotonia	57582	KCNT1	ORPHA:293181
HP:0001252	Hypotonia	57582	KCNT1	OMIM:614959
HP:0001252	Hypotonia	79751	SLC25A22	ORPHA:293181
HP:0001252	Hypotonia	79751	SLC25A22	OMIM:609304
HP:0001252	Hypotonia	57465	TBC1D24	ORPHA:293181
HP:0001252	Hypotonia	57465	TBC1D24	OMIM:220500
HP:0001252	Hypotonia	57465	TBC1D24	OMIM:615338
HP:0001252	Hypotonia	10274	STAG1	ORPHA:502434
HP:0001252	Hypotonia	4774	NFIA	OMIM:613735
HP:0001252	Hypotonia	4774	NFIA	ORPHA:401986
HP:0001252	Hypotonia	8496	PPFIBP1	OMIM:620024
HP:0001252	Hypotonia	57176	VARS2	OMIM:615917
HP:0001252	Hypotonia	501	ALDH7A1	OMIM:266100
HP:0001252	Hypotonia	3073	HEXA	OMIM:272800
HP:0001252	Hypotonia	54968	TMEM70	ORPHA:1194
HP:0001252	Hypotonia	54968	TMEM70	OMIM:614052
HP:0001252	Hypotonia	3141	HLCS	OMIM:253270
HP:0001252	Hypotonia	3141	HLCS	ORPHA:79242
HP:0001252	Hypotonia	5689	PSMB1	OMIM:620038
HP:0001252	Hypotonia	23431	AP4E1	OMIM:613744
HP:0001252	Hypotonia	23431	AP4E1	ORPHA:280763
HP:0001252	Hypotonia	25782	RAB3GAP2	OMIM:212720
HP:0001252	Hypotonia	25782	RAB3GAP2	OMIM:614225
HP:0001252	Hypotonia	25782	RAB3GAP2	ORPHA:2510
HP:0001252	Hypotonia	63908	NAPB	OMIM:620033
HP:0001252	Hypotonia	4509	MT-ATP8	ORPHA:254913
HP:0001252	Hypotonia	4509	MT-ATP8	ORPHA:480
HP:0001252	Hypotonia	514	ATP5F1E	ORPHA:254913
HP:0001252	Hypotonia	513	ATP5F1D	ORPHA:254913
HP:0001252	Hypotonia	4508	MT-ATP6	ORPHA:254913
HP:0001252	Hypotonia	84833	ATP5MK	ORPHA:254913
HP:0001252	Hypotonia	91647	ATPAF2	ORPHA:254913
HP:0001252	Hypotonia	116228	COX20	OMIM:619054
HP:0001252	Hypotonia	191	AHCY	OMIM:613752
HP:0001252	Hypotonia	686	BTD	OMIM:253260
HP:0001252	Hypotonia	686	BTD	ORPHA:79241
HP:0001252	Hypotonia	8289	ARID1A	OMIM:614607
HP:0001252	Hypotonia	55107	ANO1	OMIM:620045
HP:0001252	Hypotonia	5428	POLG	ORPHA:726
HP:0001252	Hypotonia	5428	POLG	OMIM:203700
HP:0001252	Hypotonia	5428	POLG	OMIM:613662
HP:0001252	Hypotonia	6598	SMARCB1	OMIM:614608
HP:0001252	Hypotonia	6597	SMARCA4	OMIM:614609
HP:0001252	Hypotonia	79087	ALG12	OMIM:607143
HP:0001252	Hypotonia	79087	ALG12	ORPHA:79324
HP:0001252	Hypotonia	259232	NALCN	ORPHA:562528
HP:0001252	Hypotonia	259232	NALCN	OMIM:616266
HP:0001252	Hypotonia	259232	NALCN	ORPHA:371364
HP:0001252	Hypotonia	9377	COX5A	OMIM:619064
HP:0001252	Hypotonia	58	ACTA1	ORPHA:2020
HP:0001252	Hypotonia	58	ACTA1	OMIM:620265
HP:0001252	Hypotonia	58	ACTA1	OMIM:620278
HP:0001252	Hypotonia	4633	MYL2	ORPHA:2020
HP:0001252	Hypotonia	3679	ITGA7	ORPHA:2020
HP:0001252	Hypotonia	3679	ITGA7	OMIM:613204
HP:0001252	Hypotonia	7170	TPM3	ORPHA:2020
HP:0001252	Hypotonia	51776	MAP3K20	ORPHA:2020
HP:0001252	Hypotonia	51776	MAP3K20	OMIM:617760
HP:0001252	Hypotonia	54476	RNF216	ORPHA:1173
HP:0001252	Hypotonia	10908	PNPLA6	ORPHA:1173
HP:0001252	Hypotonia	4591	TRIM37	OMIM:253250
HP:0001252	Hypotonia	79813	EHMT1	OMIM:610253
HP:0001252	Hypotonia	79813	EHMT1	ORPHA:261652
HP:0001252	Hypotonia	79813	EHMT1	ORPHA:96147
HP:0001252	Hypotonia	124512	METTL23	OMIM:615942
HP:0001252	Hypotonia	10382	TUBB4A	OMIM:612438
HP:0001252	Hypotonia	1174	AP1S1	OMIM:609313
HP:0001252	Hypotonia	112755	STX1B	ORPHA:36387
HP:0001252	Hypotonia	2563	GABRD	ORPHA:36387
HP:0001252	Hypotonia	2563	GABRD	ORPHA:1606
HP:0001252	Hypotonia	112476	PRRT2	ORPHA:36387
HP:0001252	Hypotonia	6324	SCN1B	ORPHA:36387
HP:0001252	Hypotonia	348980	HCN1	ORPHA:36387
HP:0001252	Hypotonia	2258	FGF13	ORPHA:36387
HP:0001252	Hypotonia	2258	FGF13	OMIM:301058
HP:0001252	Hypotonia	84059	ADGRV1	ORPHA:36387
HP:0001252	Hypotonia	5091	PC	OMIM:266150
HP:0001252	Hypotonia	149371	EXOC8	OMIM:619076
HP:0001252	Hypotonia	5290	PIK3CA	ORPHA:60040
HP:0001252	Hypotonia	5290	PIK3CA	ORPHA:144
HP:0001252	Hypotonia	5290	PIK3CA	OMIM:602501
HP:0001252	Hypotonia	81031	SLC2A10	ORPHA:3342
HP:0001252	Hypotonia	81031	SLC2A10	OMIM:208050
HP:0001252	Hypotonia	22859	ADGRL1	OMIM:620065
HP:0001252	Hypotonia	83475	DOHH	OMIM:620066
HP:0001252	Hypotonia	6609	SMPD1	OMIM:257200
HP:0001252	Hypotonia	55027	HEATR3	OMIM:620072
HP:0001252	Hypotonia	51611	DPH5	OMIM:620070
HP:0001252	Hypotonia	58508	KMT2C	ORPHA:261652
HP:0001252	Hypotonia	58508	KMT2C	OMIM:617768
HP:0001252	Hypotonia	1654	DDX3X	ORPHA:3338
HP:0001252	Hypotonia	1654	DDX3X	OMIM:300958
HP:0001252	Hypotonia	284217	LAMA1	OMIM:615960
HP:0001252	Hypotonia	284217	LAMA1	ORPHA:370022
HP:0001252	Hypotonia	28976	ACAD9	OMIM:611126
HP:0001252	Hypotonia	51085	MLXIPL	OMIM:194050
HP:0001252	Hypotonia	10430	TMEM147	OMIM:620075
HP:0001252	Hypotonia	3187	HNRNPH1	OMIM:620083
HP:0001252	Hypotonia	63895	PIEZO2	OMIM:248700
HP:0001252	Hypotonia	63895	PIEZO2	ORPHA:2461
HP:0001252	Hypotonia	22880	MORC2	OMIM:619090
HP:0001252	Hypotonia	22880	MORC2	OMIM:616688
HP:0001252	Hypotonia	64220	STRA6	ORPHA:2470
HP:0001252	Hypotonia	64220	STRA6	OMIM:601186
HP:0001252	Hypotonia	7477	WNT7B	ORPHA:2470
HP:0001252	Hypotonia	5915	RARB	ORPHA:2470
HP:0001252	Hypotonia	7355	SLC35A2	OMIM:300896
HP:0001252	Hypotonia	729920	CRPPA	OMIM:614643
HP:0001252	Hypotonia	729920	CRPPA	ORPHA:588
HP:0001252	Hypotonia	729920	CRPPA	ORPHA:899
HP:0001252	Hypotonia	147007	TMEM199	OMIM:616829
HP:0001252	Hypotonia	84978	FRMD5	OMIM:620094
HP:0001252	Hypotonia	2581	GALC	OMIM:245200
HP:0001252	Hypotonia	667	DST	OMIM:614653
HP:0001252	Hypotonia	2703	GJA8	OMIM:612474
HP:0001252	Hypotonia	2702	GJA5	OMIM:612474
HP:0001252	Hypotonia	57017	COQ9	OMIM:614654
HP:0001252	Hypotonia	170302	ARX	OMIM:300419
HP:0001252	Hypotonia	170302	ARX	ORPHA:452
HP:0001252	Hypotonia	170302	ARX	OMIM:300215
HP:0001252	Hypotonia	10664	CTCF	OMIM:615502
HP:0001252	Hypotonia	10664	CTCF	ORPHA:363611
HP:0001252	Hypotonia	6497	SKI	ORPHA:2462
HP:0001252	Hypotonia	6497	SKI	ORPHA:1606
HP:0001252	Hypotonia	6497	SKI	OMIM:182212
HP:0001252	Hypotonia	5376	PMP22	OMIM:145900
HP:0001252	Hypotonia	1959	EGR2	OMIM:145900
HP:0001252	Hypotonia	57716	PRX	OMIM:145900
HP:0001252	Hypotonia	1861	TOR1A	OMIM:128100
HP:0001252	Hypotonia	3720	JARID2	OMIM:620098
HP:0001252	Hypotonia	1738	DLD	OMIM:246900
HP:0001252	Hypotonia	270	AMPD1	OMIM:615511
HP:0001252	Hypotonia	51621	KLF13	OMIM:612001
HP:0001252	Hypotonia	7167	TPI1	OMIM:615512
HP:0001252	Hypotonia	7167	TPI1	ORPHA:868
HP:0001252	Hypotonia	29926	GMPPA	OMIM:615510
HP:0001252	Hypotonia	29926	GMPPA	ORPHA:869
HP:0001252	Hypotonia	5332	PLCB4	OMIM:614669
HP:0001252	Hypotonia	5332	PLCB4	OMIM:620458
HP:0001252	Hypotonia	56997	COQ8A	OMIM:612016
HP:0001252	Hypotonia	56997	COQ8A	ORPHA:139485
HP:0001252	Hypotonia	11253	MAN1B1	OMIM:614202
HP:0001252	Hypotonia	5530	PPP3CA	OMIM:617711
HP:0001252	Hypotonia	5925	RB1	ORPHA:1587
HP:0001252	Hypotonia	7874	USP7	OMIM:616863
HP:0001252	Hypotonia	7874	USP7	ORPHA:500055
HP:0001252	Hypotonia	27315	PGAP2	OMIM:614207
HP:0001252	Hypotonia	84342	COG8	OMIM:611182
HP:0001252	Hypotonia	79633	FAT4	OMIM:615546
HP:0001252	Hypotonia	55644	OSGEP	OMIM:617729
HP:0001252	Hypotonia	55644	OSGEP	ORPHA:2065
HP:0001252	Hypotonia	57572	DOCK6	OMIM:614219
HP:0001252	Hypotonia	2464	FRA16E	OMIM:136570
HP:0001252	Hypotonia	112858	TP53RK	OMIM:617730
HP:0001252	Hypotonia	112858	TP53RK	ORPHA:2065
HP:0001252	Hypotonia	3747	KCNC2	OMIM:619913
HP:0001252	Hypotonia	2548	GAA	OMIM:232300
HP:0001252	Hypotonia	490	ATP2B1	OMIM:619910
HP:0001252	Hypotonia	1917	EEF1A2	OMIM:616409
HP:0001252	Hypotonia	6925	TCF4	ORPHA:2896
HP:0001252	Hypotonia	6925	TCF4	OMIM:610954
HP:0001252	Hypotonia	26047	CNTNAP2	ORPHA:163681
HP:0001252	Hypotonia	26047	CNTNAP2	OMIM:610042
HP:0001252	Hypotonia	51124	IER3IP1	OMIM:614231
HP:0001252	Hypotonia	83737	ITCH	OMIM:613385
HP:0001252	Hypotonia	55164	SHQ1	OMIM:619922
HP:0001252	Hypotonia	6519	SLC3A1	ORPHA:163690
HP:0001252	Hypotonia	6519	SLC3A1	ORPHA:163693
HP:0001252	Hypotonia	9581	PREPL	ORPHA:163690
HP:0001252	Hypotonia	9581	PREPL	ORPHA:163693
HP:0001252	Hypotonia	9581	PREPL	OMIM:616224
HP:0001252	Hypotonia	9215	LARGE1	OMIM:608840
HP:0001252	Hypotonia	9215	LARGE1	ORPHA:588
HP:0001252	Hypotonia	9215	LARGE1	OMIM:236670
HP:0001252	Hypotonia	9215	LARGE1	ORPHA:899
HP:0001252	Hypotonia	6591	SNAI2	ORPHA:2884
HP:0001252	Hypotonia	3815	KIT	ORPHA:2884
HP:0001252	Hypotonia	5495	PPM1B	ORPHA:163693
HP:0001252	Hypotonia	79823	CAMKMT	ORPHA:163693
HP:0001252	Hypotonia	29929	ALG6	OMIM:603147
HP:0001252	Hypotonia	29929	ALG6	ORPHA:79320
HP:0001252	Hypotonia	1376	CPT2	OMIM:608836
HP:0001252	Hypotonia	10717	AP4B1	ORPHA:280763
HP:0001252	Hypotonia	11154	AP4S1	ORPHA:280763
HP:0001252	Hypotonia	11154	AP4S1	OMIM:614067
HP:0001252	Hypotonia	9320	TRIP12	OMIM:617752
HP:0001252	Hypotonia	5879	RAC1	OMIM:617751
HP:0001252	Hypotonia	440	ASNS	OMIM:615574
HP:0001252	Hypotonia	5538	PPT1	OMIM:256730
HP:0001252	Hypotonia	1663	DDX11	OMIM:613398
HP:0001252	Hypotonia	119559	SFXN4	OMIM:615578
HP:0001252	Hypotonia	51684	SUFU	OMIM:617757
HP:0001252	Hypotonia	51684	SUFU	ORPHA:475
HP:0001252	Hypotonia	9757	KMT2B	OMIM:619934
HP:0001252	Hypotonia	9469	CHST3	OMIM:245600
HP:0001252	Hypotonia	26229	B3GAT3	OMIM:245600
HP:0001252	Hypotonia	8803	SUCLA2	OMIM:612073
HP:0001252	Hypotonia	7043	TGFB3	OMIM:615582
HP:0001252	Hypotonia	50484	RRM2B	OMIM:612075
HP:0001252	Hypotonia	50484	RRM2B	ORPHA:480
HP:0001252	Hypotonia	10464	PIBF1	OMIM:617767
HP:0001252	Hypotonia	10464	PIBF1	ORPHA:475
HP:0001252	Hypotonia	2036	EPB41L1	OMIM:614257
HP:0001252	Hypotonia	9990	SLC12A6	OMIM:218000
HP:0001252	Hypotonia	26235	FBXL4	OMIM:615471
HP:0001252	Hypotonia	1144	CHRND	OMIM:616322
HP:0001252	Hypotonia	1144	CHRND	OMIM:616321
HP:0001252	Hypotonia	1144	CHRND	OMIM:616323
HP:0001252	Hypotonia	5994	RFXAP	OMIM:620817
HP:0001252	Hypotonia	23135	KDM6B	OMIM:618505
HP:0001252	Hypotonia	4593	MUSK	OMIM:616325
HP:0001252	Hypotonia	23334	SZT2	OMIM:615476
HP:0001252	Hypotonia	55823	VPS11	ORPHA:466934
HP:0001252	Hypotonia	55823	VPS11	OMIM:616683
HP:0001252	Hypotonia	4897	NRCAM	OMIM:619833
HP:0001252	Hypotonia	5927	KDM5A	OMIM:620820
HP:0001252	Hypotonia	4072	EPCAM	ORPHA:144
HP:0001252	Hypotonia	4292	MLH1	ORPHA:144
HP:0001252	Hypotonia	5395	PMS2	ORPHA:144
HP:0001252	Hypotonia	7048	TGFBR2	ORPHA:144
HP:0001252	Hypotonia	2956	MSH6	ORPHA:144
HP:0001252	Hypotonia	5378	PMS1	ORPHA:144
HP:0001252	Hypotonia	4436	MSH2	ORPHA:144
HP:0001252	Hypotonia	4552	MTRR	OMIM:236270
HP:0001252	Hypotonia	4552	MTRR	ORPHA:2169
HP:0001252	Hypotonia	1373	CPS1	ORPHA:147
HP:0001252	Hypotonia	4125	MAN2B1	ORPHA:309282
HP:0001252	Hypotonia	4125	MAN2B1	OMIM:248500
HP:0001252	Hypotonia	9578	CDC42BPB	OMIM:619841
HP:0001252	Hypotonia	65993	MRPS34	OMIM:617664
HP:0001252	Hypotonia	80816	ASXL3	OMIM:615485
HP:0001252	Hypotonia	4141	MARS1	OMIM:615486
HP:0001252	Hypotonia	10528	NOP56	OMIM:614153
HP:0001252	Hypotonia	387787	LIPT2	OMIM:617668
HP:0001252	Hypotonia	1841	DTYMK	OMIM:619847
HP:0001252	Hypotonia	6487	ST3GAL3	OMIM:615006
HP:0001252	Hypotonia	8239	USP9X	OMIM:300919
HP:0001252	Hypotonia	7532	YWHAG	OMIM:617665
HP:0001252	Hypotonia	318	NUDT2	OMIM:619844
HP:0001252	Hypotonia	2132	EXT2	ORPHA:466926
HP:0001252	Hypotonia	2132	EXT2	OMIM:616682
HP:0001252	Hypotonia	24142	NAA80	OMIM:620830
HP:0001252	Hypotonia	55636	CHD7	ORPHA:138
HP:0001252	Hypotonia	55636	CHD7	ORPHA:478
HP:0001252	Hypotonia	9723	SEMA3E	ORPHA:138
HP:0001252	Hypotonia	55650	PIGV	OMIM:239300
HP:0001252	Hypotonia	288	ANK3	OMIM:615493
HP:0001252	Hypotonia	288	ANK3	ORPHA:356996
HP:0001252	Hypotonia	23321	TRIM2	OMIM:615490
HP:0001252	Hypotonia	1759	DNM1	OMIM:616346
HP:0001252	Hypotonia	1759	DNM1	OMIM:620352
HP:0001252	Hypotonia	2770	GNAI1	OMIM:619854
HP:0001252	Hypotonia	1716	DGUOK	OMIM:251880
HP:0001252	Hypotonia	1105	CHD1	OMIM:617682
HP:0001252	Hypotonia	1594	CYP27B1	OMIM:264700
HP:0001252	Hypotonia	5528	PPP2R5D	OMIM:616355
HP:0001252	Hypotonia	23327	NEDD4L	OMIM:617201
HP:0001252	Hypotonia	55065	SLC52A1	OMIM:615026
HP:0001252	Hypotonia	11193	WBP4	OMIM:620852
HP:0001252	Hypotonia	26834	RNU4-2	OMIM:620851
HP:0001252	Hypotonia	5518	PPP2R1A	OMIM:616362
HP:0001252	Hypotonia	5518	PPP2R1A	ORPHA:457284
HP:0001252	Hypotonia	9895	TECPR2	OMIM:615031
HP:0001252	Hypotonia	26038	CHD5	OMIM:619873
HP:0001252	Hypotonia	3737	KCNA2	OMIM:616366
HP:0001252	Hypotonia	23126	POGZ	OMIM:616364
HP:0001252	Hypotonia	57680	CHD8	OMIM:615032
HP:0001252	Hypotonia	92609	TIMM50	OMIM:617698
HP:0001252	Hypotonia	92609	TIMM50	ORPHA:505216
HP:0001252	Hypotonia	51692	CPSF3	OMIM:619876
HP:0001252	Hypotonia	5590	PRKCZ	ORPHA:1606
HP:0001252	Hypotonia	23013	SPEN	ORPHA:1606
HP:0001252	Hypotonia	23013	SPEN	OMIM:619312
HP:0001252	Hypotonia	8510	MMP23B	ORPHA:1606
HP:0001252	Hypotonia	7798	LUZP1	ORPHA:1606
HP:0001252	Hypotonia	10630	PDPN	ORPHA:1606
HP:0001252	Hypotonia	3339	HSPG2	ORPHA:1606
HP:0001252	Hypotonia	10277	UBE4B	ORPHA:1606
HP:0001252	Hypotonia	8514	KCNAB2	ORPHA:1606
HP:0001252	Hypotonia	63976	PRDM16	ORPHA:1606
HP:0001252	Hypotonia	54897	CASZ1	ORPHA:1606
HP:0001252	Hypotonia	148789	B3GALNT2	ORPHA:588
HP:0001252	Hypotonia	148789	B3GALNT2	ORPHA:899
HP:0001252	Hypotonia	29925	GMPPB	ORPHA:588
HP:0001252	Hypotonia	29925	GMPPB	ORPHA:363623
HP:0001252	Hypotonia	29925	GMPPB	OMIM:615350
HP:0001252	Hypotonia	29925	GMPPB	OMIM:615351
HP:0001252	Hypotonia	29925	GMPPB	OMIM:615352
HP:0001252	Hypotonia	29954	POMT2	ORPHA:588
HP:0001252	Hypotonia	29954	POMT2	OMIM:236670
HP:0001252	Hypotonia	29954	POMT2	ORPHA:899
HP:0001252	Hypotonia	29954	POMT2	OMIM:613156
HP:0001252	Hypotonia	55624	POMGNT1	ORPHA:588
HP:0001252	Hypotonia	55624	POMGNT1	ORPHA:899
HP:0001252	Hypotonia	10585	POMT1	ORPHA:588
HP:0001252	Hypotonia	10585	POMT1	OMIM:236670
HP:0001252	Hypotonia	10585	POMT1	ORPHA:899
HP:0001252	Hypotonia	2990	GUSB	ORPHA:584
HP:0001252	Hypotonia	4644	MYO5A	ORPHA:33445
HP:0001252	Hypotonia	4644	MYO5A	OMIM:214450
HP:0001252	Hypotonia	56098	PCDHGC4	OMIM:619880
HP:0001252	Hypotonia	27068	PPA2	OMIM:617222
HP:0001252	Hypotonia	4285	MIPEP	OMIM:617228
HP:0001252	Hypotonia	2555	GABRA2	OMIM:618557
HP:0001252	Hypotonia	57192	MCOLN1	ORPHA:578
HP:0001252	Hypotonia	57192	MCOLN1	OMIM:252650
HP:0001252	Hypotonia	124583	CANT1	OMIM:251450
HP:0001252	Hypotonia	38	ACAT1	ORPHA:134
HP:0001252	Hypotonia	4351	MPI	OMIM:602579
HP:0001252	Hypotonia	3798	KIF5A	OMIM:617235
HP:0001252	Hypotonia	8565	YARS1	OMIM:619418
HP:0001252	Hypotonia	64919	BCL11B	OMIM:617237
HP:0001252	Hypotonia	64919	BCL11B	OMIM:618092
HP:0001252	Hypotonia	2720	GLB1	OMIM:230500
HP:0001252	Hypotonia	84295	PHF6	ORPHA:127
HP:0001252	Hypotonia	84295	PHF6	OMIM:301900
HP:0001252	Hypotonia	1967	EIF2B1	OMIM:603896
HP:0001252	Hypotonia	85300	ATCAY	OMIM:601238
HP:0001252	Hypotonia	205327	C2orf69	OMIM:619423
HP:0001252	Hypotonia	26173	INTS1	OMIM:618571
HP:0001252	Hypotonia	27429	HTRA2	OMIM:617248
HP:0001252	Hypotonia	1642	DDB1	OMIM:619426
HP:0001252	Hypotonia	81603	TRIM8	OMIM:619428
HP:0001252	Hypotonia	389827	MYMK	OMIM:254940
HP:0001252	Hypotonia	389827	MYMK	ORPHA:1358
HP:0001252	Hypotonia	410	ARSA	OMIM:250100
HP:0001252	Hypotonia	1499	CTNNB1	OMIM:615075
HP:0001252	Hypotonia	56896	DPYSL5	OMIM:619435
HP:0001252	Hypotonia	56896	DPYSL5	ORPHA:7
HP:0001252	Hypotonia	53371	NUP54	OMIM:620427
HP:0001252	Hypotonia	54973	INTS11	OMIM:620428
HP:0001252	Hypotonia	92335	STRADA	ORPHA:500533
HP:0001252	Hypotonia	92335	STRADA	OMIM:611087
HP:0001252	Hypotonia	4967	OGDH	OMIM:203740
HP:0001252	Hypotonia	6418	SET	OMIM:618106
HP:0001252	Hypotonia	2653	GCSH	OMIM:620423
HP:0001252	Hypotonia	9526	MPDU1	OMIM:609180
HP:0001252	Hypotonia	128869	PIGU	OMIM:618590
HP:0001252	Hypotonia	57520	HECW2	OMIM:617268
HP:0001252	Hypotonia	23524	SRRM2	OMIM:620439
HP:0001252	Hypotonia	4041	LRP5	OMIM:259770
HP:0001252	Hypotonia	1760	DMPK	OMIM:160900
HP:0001252	Hypotonia	5980	REV3L	ORPHA:570
HP:0001252	Hypotonia	23129	PLXND1	ORPHA:570
HP:0001252	Hypotonia	3039	HBA1	ORPHA:98791
HP:0001252	Hypotonia	3040	HBA2	ORPHA:98791
HP:0001252	Hypotonia	7084	TK2	ORPHA:254875
HP:0001252	Hypotonia	7084	TK2	OMIM:609560
HP:0001252	Hypotonia	8888	MCM3AP	OMIM:618124
HP:0001252	Hypotonia	537	ATP6AP1	OMIM:300972
HP:0001252	Hypotonia	3756	KCNH1	OMIM:135500
HP:0001252	Hypotonia	3756	KCNH1	OMIM:611816
HP:0001252	Hypotonia	3376	IARS1	ORPHA:541423
HP:0001252	Hypotonia	3376	IARS1	OMIM:617093
HP:0001252	Hypotonia	9675	TTI1	OMIM:620445
HP:0001252	Hypotonia	1312	COMT	ORPHA:567
HP:0001252	Hypotonia	221037	JMJD1C	ORPHA:567
HP:0001252	Hypotonia	2812	GP1BB	ORPHA:567
HP:0001252	Hypotonia	6239	RREB1	ORPHA:567
HP:0001252	Hypotonia	6899	TBX1	ORPHA:567
HP:0001252	Hypotonia	6899	TBX1	ORPHA:1727
HP:0001252	Hypotonia	6899	TBX1	OMIM:192430
HP:0001252	Hypotonia	7290	HIRA	ORPHA:567
HP:0001252	Hypotonia	9632	SEC24C	ORPHA:567
HP:0001252	Hypotonia	7353	UFD1	ORPHA:567
HP:0001252	Hypotonia	421	ARVCF	ORPHA:567
HP:0001252	Hypotonia	538	ATP7A	ORPHA:565
HP:0001252	Hypotonia	538	ATP7A	ORPHA:198
HP:0001252	Hypotonia	538	ATP7A	OMIM:309400
HP:0001252	Hypotonia	6045	RNF2	OMIM:619460
HP:0001252	Hypotonia	51102	MECR	OMIM:617282
HP:0001252	Hypotonia	51102	MECR	ORPHA:508093
HP:0001252	Hypotonia	7809	BSND	OMIM:602522
HP:0001252	Hypotonia	7809	BSND	ORPHA:89938
HP:0001252	Hypotonia	7317	UBA1	OMIM:301830
HP:0001252	Hypotonia	3188	HNRNPH2	OMIM:300986
HP:0001252	Hypotonia	6811	STX5	OMIM:620454
HP:0001252	Hypotonia	1974	EIF4A2	OMIM:620455
HP:0001252	Hypotonia	4548	MTR	OMIM:250940
HP:0001252	Hypotonia	6874	TAF4	OMIM:620450
HP:0001252	Hypotonia	84065	TMEM222	OMIM:619470
HP:0001252	Hypotonia	11212	PLPBP	OMIM:617290
HP:0001252	Hypotonia	57187	THOC2	OMIM:300957
HP:0001252	Hypotonia	57187	THOC2	ORPHA:457240
HP:0001252	Hypotonia	10526	IPO8	OMIM:619472
HP:0001252	Hypotonia	54539	NDUFB11	OMIM:300952
HP:0001252	Hypotonia	54539	NDUFB11	ORPHA:2609
HP:0001252	Hypotonia	6711	SPTBN1	OMIM:619475
HP:0001252	Hypotonia	4762	NEUROG1	OMIM:620469
HP:0001252	Hypotonia	6050	RNH1	OMIM:620461
HP:0001252	Hypotonia	2131	EXT1	ORPHA:502
HP:0001252	Hypotonia	5885	RAD21	ORPHA:502
HP:0001252	Hypotonia	5885	RAD21	ORPHA:199
HP:0001252	Hypotonia	10682	EBP	OMIM:300960
HP:0001252	Hypotonia	8567	MADD	OMIM:619004
HP:0001252	Hypotonia	374879	ZNF699	OMIM:619488
HP:0001252	Hypotonia	4841	NONO	OMIM:300967
HP:0001252	Hypotonia	28952	CCDC22	OMIM:300963
HP:0001252	Hypotonia	28952	CCDC22	ORPHA:7
HP:0001252	Hypotonia	9373	PLAA	ORPHA:521426
HP:0001252	Hypotonia	9373	PLAA	OMIM:617527
HP:0001252	Hypotonia	57038	RARS2	OMIM:611523
HP:0001252	Hypotonia	10681	GNB5	ORPHA:542306
HP:0001252	Hypotonia	10681	GNB5	OMIM:617173
HP:0001252	Hypotonia	10681	GNB5	OMIM:617182
HP:0001252	Hypotonia	673	BRAF	OMIM:613706
HP:0001252	Hypotonia	673	BRAF	OMIM:115150
HP:0001252	Hypotonia	673	BRAF	ORPHA:1340
HP:0001252	Hypotonia	80267	EDEM3	OMIM:619493
HP:0001252	Hypotonia	6748	SSR4	OMIM:300934
HP:0001252	Hypotonia	84231	TRAF7	OMIM:618164
HP:0001252	Hypotonia	63899	NSUN3	OMIM:619012
HP:0001252	Hypotonia	92344	GORAB	ORPHA:2078
HP:0001252	Hypotonia	5831	PYCR1	ORPHA:2078
HP:0001252	Hypotonia	1073	CFL2	OMIM:610687
HP:0001252	Hypotonia	9897	WASHC5	ORPHA:7
HP:0001252	Hypotonia	9897	WASHC5	OMIM:220210
HP:0001252	Hypotonia	57020	VPS35L	ORPHA:7
HP:0001252	Hypotonia	114034	TOE1	ORPHA:284339
HP:0001252	Hypotonia	114034	TOE1	OMIM:614969
HP:0001252	Hypotonia	9562	MINPP1	ORPHA:284339
HP:0001252	Hypotonia	5860	QDPR	OMIM:261630
HP:0001252	Hypotonia	1496	CTNNA2	OMIM:618174
HP:0001252	Hypotonia	8910	SGCE	OMIM:159900
HP:0001252	Hypotonia	51002	TPRKB	ORPHA:2065
HP:0001252	Hypotonia	57122	NUP107	ORPHA:2065
HP:0001252	Hypotonia	10785	WDR4	ORPHA:2065
HP:0001252	Hypotonia	84520	GON7	ORPHA:2065
HP:0001252	Hypotonia	8270	LAGE3	ORPHA:2065
HP:0001252	Hypotonia	8270	LAGE3	OMIM:301006
HP:0001252	Hypotonia	55294	FBXW7	OMIM:620012
HP:0001252	Hypotonia	9898	UBAP2L	OMIM:620494
HP:0001252	Hypotonia	65055	REEP1	OMIM:620011
HP:0001252	Hypotonia	2760	GM2A	OMIM:272750
HP:0001252	Hypotonia	1183	CLCN4	OMIM:300114
HP:0001252	Hypotonia	23241	PACS2	OMIM:618067
HP:0001252	Hypotonia	7148	TNXB	ORPHA:230839
HP:0001252	Hypotonia	161742	SPRED1	OMIM:611431
HP:0001252	Hypotonia	161742	SPRED1	ORPHA:137605
HP:0001252	Hypotonia	118429	ANTXR2	ORPHA:2176
HP:0001252	Hypotonia	10466	COG5	OMIM:613612
HP:0001252	Hypotonia	7138	TNNT1	OMIM:620389
HP:0001252	Hypotonia	10667	FARS2	OMIM:614946
HP:0001252	Hypotonia	9839	ZEB2	OMIM:235730
HP:0001252	Hypotonia	80232	WDR26	ORPHA:513456
HP:0001252	Hypotonia	80232	WDR26	OMIM:617616
HP:0001252	Hypotonia	80055	PGAP1	OMIM:615802
HP:0001252	Hypotonia	6662	SOX9	OMIM:114290
HP:0001252	Hypotonia	10225	CD96	OMIM:211750
HP:0001252	Hypotonia	10225	CD96	ORPHA:1308
HP:0001252	Hypotonia	7175	TPR	OMIM:620393
HP:0001252	Hypotonia	3766	KCNJ10	OMIM:612780
HP:0001252	Hypotonia	64207	IRF2BPL	OMIM:618088
HP:0001252	Hypotonia	80204	FBXO11	OMIM:618089
HP:0001252	Hypotonia	5119	CHMP1A	OMIM:614961
HP:0001252	Hypotonia	84876	ORAI1	OMIM:612782
HP:0001252	Hypotonia	23522	KAT6B	OMIM:606170
HP:0001252	Hypotonia	23522	KAT6B	OMIM:603736
HP:0001252	Hypotonia	23522	KAT6B	ORPHA:3047
HP:0001252	Hypotonia	966	CD59	OMIM:612300
HP:0001252	Hypotonia	6786	STIM1	OMIM:612783
HP:0001252	Hypotonia	5015	OTX2	OMIM:610125
HP:0001252	Hypotonia	5238	PGM3	OMIM:615816
HP:0001252	Hypotonia	23325	WASHC4	OMIM:615817
HP:0001252	Hypotonia	80856	LNPK	OMIM:618090
HP:0001252	Hypotonia	6885	MAP3K7	OMIM:157800
HP:0001252	Hypotonia	11232	POLG2	OMIM:610131
HP:0001252	Hypotonia	1954	MEGF8	OMIM:614976
HP:0001252	Hypotonia	84300	UQCC2	OMIM:615824
HP:0001252	Hypotonia	113235	SLC46A1	OMIM:229050
HP:0001252	Hypotonia	165	AEBP1	ORPHA:536532
HP:0001252	Hypotonia	165	AEBP1	OMIM:618000
HP:0001252	Hypotonia	3192	HNRNPU	ORPHA:238769
HP:0001252	Hypotonia	2903	GRIN2A	OMIM:245570
HP:0001252	Hypotonia	593	BCKDHA	OMIM:248600
HP:0001252	Hypotonia	5063	PAK3	OMIM:300558
HP:0001252	Hypotonia	5626	PROP1	ORPHA:226307
HP:0001252	Hypotonia	89884	LHX4	ORPHA:226307
HP:0001252	Hypotonia	8022	LHX3	ORPHA:226307
HP:0001252	Hypotonia	8820	HESX1	ORPHA:226307
HP:0001252	Hypotonia	8820	HESX1	ORPHA:478
HP:0001252	Hypotonia	79753	SNIP1	OMIM:614501
HP:0001252	Hypotonia	3418	IDH2	OMIM:613657
HP:0001252	Hypotonia	773	CACNA1A	ORPHA:2131
HP:0001252	Hypotonia	6507	SLC1A3	ORPHA:2131
HP:0001252	Hypotonia	1650	DDOST	OMIM:614507
HP:0001252	Hypotonia	10056	FARSB	OMIM:613658
HP:0001252	Hypotonia	54499	TMCO1	OMIM:213980
HP:0001252	Hypotonia	440138	ALG11	OMIM:613661
HP:0001252	Hypotonia	50506	DUOX2	ORPHA:226316
HP:0001252	Hypotonia	50506	DUOX2	ORPHA:95716
HP:0001252	Hypotonia	64135	IFIH1	OMIM:615846
HP:0001252	Hypotonia	64135	IFIH1	OMIM:182250
HP:0001252	Hypotonia	1910	EDNRB	OMIM:277580
HP:0001252	Hypotonia	10472	ZBTB18	OMIM:612337
HP:0001252	Hypotonia	8813	DPM1	OMIM:608799
HP:0001252	Hypotonia	340024	SLC6A19	ORPHA:2116
HP:0001252	Hypotonia	57393	CLTRN	ORPHA:2116
HP:0001252	Hypotonia	2146	EZH2	OMIM:277590
HP:0001252	Hypotonia	51067	YARS2	ORPHA:2598
HP:0001252	Hypotonia	51067	YARS2	OMIM:613561
HP:0001252	Hypotonia	3242	HPD	ORPHA:2118
HP:0001252	Hypotonia	55023	PHIP	ORPHA:589905
HP:0001252	Hypotonia	55023	PHIP	OMIM:617991
HP:0001252	Hypotonia	6664	SOX11	OMIM:615866
HP:0001252	Hypotonia	54704	PDP1	OMIM:608782
HP:0001252	Hypotonia	91949	COG7	OMIM:608779
HP:0001252	Hypotonia	91949	COG7	ORPHA:79333
HP:0001252	Hypotonia	64116	SLC39A8	OMIM:616721
HP:0001252	Hypotonia	23394	ADNP	OMIM:615873
HP:0001252	Hypotonia	55605	KIF21A	ORPHA:45358
HP:0001252	Hypotonia	401	PHOX2A	ORPHA:45358
HP:0001252	Hypotonia	84570	COL25A1	ORPHA:45358
HP:0001252	Hypotonia	1788	DNMT3A	OMIM:615879
HP:0001252	Hypotonia	6948	TCN2	OMIM:275350
HP:0001252	Hypotonia	79796	ALG9	OMIM:608776
HP:0001252	Hypotonia	79796	ALG9	ORPHA:79328
HP:0001252	Hypotonia	55593	OTUD5	OMIM:301056
HP:0001252	Hypotonia	3748	KCNC3	OMIM:605259
HP:0001252	Hypotonia	5160	PDHA1	OMIM:312170
HP:0001252	Hypotonia	5160	PDHA1	ORPHA:79243
HP:0001252	Hypotonia	10229	COQ7	OMIM:616733
HP:0001252	Hypotonia	79644	SRD5A3	OMIM:612379
HP:0001252	Hypotonia	50	ACO2	OMIM:614559
HP:0001252	Hypotonia	10982	MAPRE2	OMIM:616734
HP:0001252	Hypotonia	55033	FKBP14	OMIM:614557
HP:0001252	Hypotonia	84679	SLC9A7	OMIM:301024
HP:0001252	Hypotonia	4694	NDUFA1	OMIM:301020
HP:0001252	Hypotonia	4694	NDUFA1	ORPHA:2609
HP:0001252	Hypotonia	27235	COQ2	OMIM:607426
HP:0001252	Hypotonia	63035	BCORL1	OMIM:301029
HP:0001252	Hypotonia	1778	DYNC1H1	OMIM:614563
HP:0001252	Hypotonia	80746	TSEN2	OMIM:612389
HP:0001252	Hypotonia	4361	MRE11	OMIM:604391
HP:0001252	Hypotonia	5422	POLA1	OMIM:301030
HP:0001252	Hypotonia	23028	KDM1A	ORPHA:477993
HP:0001252	Hypotonia	79576	NKAP	OMIM:301039
HP:0001252	Hypotonia	83696	TRAPPC9	ORPHA:352530
HP:0001252	Hypotonia	56479	KCNQ5	OMIM:617601
HP:0001252	Hypotonia	23152	CIC	OMIM:617600
HP:0001252	Hypotonia	57531	HACE1	OMIM:616756
HP:0001252	Hypotonia	59341	TRPV4	ORPHA:1216
HP:0001252	Hypotonia	60	ACTB	OMIM:243310
HP:0001252	Hypotonia	23476	BRD4	ORPHA:199
HP:0001252	Hypotonia	9126	SMC3	ORPHA:199
HP:0001252	Hypotonia	8243	SMC1A	ORPHA:199
HP:0001252	Hypotonia	8243	SMC1A	ORPHA:3095
HP:0001252	Hypotonia	6878	TAF6	ORPHA:199
HP:0001252	Hypotonia	55869	HDAC8	ORPHA:199
HP:0001252	Hypotonia	157680	VPS13B	ORPHA:193
HP:0001252	Hypotonia	157680	VPS13B	OMIM:216550
HP:0001252	Hypotonia	51520	LARS1	OMIM:615438
HP:0001252	Hypotonia	4329	ALDH6A1	OMIM:614105
HP:0001252	Hypotonia	3425	IDUA	ORPHA:93473
HP:0001252	Hypotonia	26503	SLC17A5	OMIM:604369
HP:0001252	Hypotonia	26503	SLC17A5	OMIM:269920
HP:0001252	Hypotonia	60528	ELAC2	OMIM:615440
HP:0001252	Hypotonia	80210	ARMC9	OMIM:617622
HP:0001252	Hypotonia	80210	ARMC9	ORPHA:475
HP:0001252	Hypotonia	3832	KIF11	ORPHA:2526
HP:0001252	Hypotonia	5294	PIK3CG	OMIM:619802
HP:0001252	Hypotonia	617	BCS1L	OMIM:124000
HP:0001252	Hypotonia	113246	C12orf57	OMIM:218340
HP:0001252	Hypotonia	22931	RAB18	ORPHA:2510
HP:0001252	Hypotonia	128637	TBC1D20	ORPHA:2510
HP:0001252	Hypotonia	2752	GLUL	OMIM:620806
HP:0001252	Hypotonia	2752	GLUL	OMIM:610015
HP:0001252	Hypotonia	1140	CHRNB1	OMIM:616314
HP:0001252	Hypotonia	1140	CHRNB1	OMIM:616313
HP:0001252	Hypotonia	8625	RFXANK	OMIM:620815
HP:0001252	Hypotonia	8398	PLA2G6	OMIM:256600
HP:0001252	Hypotonia	25915	NDUFAF3	ORPHA:2609
HP:0001252	Hypotonia	4716	NDUFB10	ORPHA:2609
HP:0001252	Hypotonia	284184	NDUFAF8	ORPHA:2609
HP:0001252	Hypotonia	55863	TMEM126B	ORPHA:2609
HP:0001252	Hypotonia	4535	MT-ND1	ORPHA:2609
HP:0001252	Hypotonia	4537	MT-ND3	ORPHA:2609
HP:0001252	Hypotonia	4729	NDUFV2	ORPHA:2609
HP:0001252	Hypotonia	4726	NDUFS6	ORPHA:2609
HP:0001252	Hypotonia	4722	NDUFS3	ORPHA:2609
HP:0001252	Hypotonia	79133	NDUFAF5	ORPHA:2609
HP:0001252	Hypotonia	126328	NDUFA11	ORPHA:2609
HP:0001252	Hypotonia	80224	NUBPL	ORPHA:2609
HP:0001252	Hypotonia	29078	NDUFAF4	ORPHA:2609
HP:0001252	Hypotonia	374291	NDUFS7	ORPHA:2609
HP:0001252	Hypotonia	4700	NDUFA6	ORPHA:2609
HP:0001252	Hypotonia	4536	MT-ND2	ORPHA:2609
HP:0001252	Hypotonia	4099	MAG	OMIM:616680
HP:0001252	Hypotonia	3265	HRAS	ORPHA:2612
HP:0001252	Hypotonia	2895	GRID2	OMIM:616204
HP:0001252	Hypotonia	8425	LTBP4	OMIM:613177
HP:0001252	Hypotonia	51126	NAA20	OMIM:619717
HP:0001252	Hypotonia	60684	TRAPPC11	OMIM:615356
HP:0001252	Hypotonia	60684	TRAPPC11	ORPHA:869
HP:0001252	Hypotonia	10060	ABCC9	OMIM:619719
HP:0001252	Hypotonia	124997	WDR81	ORPHA:1766
HP:0001252	Hypotonia	51761	ATP8A2	ORPHA:1766
HP:0001252	Hypotonia	767	CA8	ORPHA:1766
HP:0001252	Hypotonia	7849	PAX8	OMIM:218700
HP:0001252	Hypotonia	7849	PAX8	ORPHA:95720
HP:0001252	Hypotonia	7849	PAX8	ORPHA:95713
HP:0001252	Hypotonia	7849	PAX8	ORPHA:95712
HP:0001252	Hypotonia	249	ALPL	OMIM:241500
HP:0001252	Hypotonia	3020	H3-3A	OMIM:619720
HP:0001252	Hypotonia	1644	DDC	ORPHA:35708
HP:0001252	Hypotonia	55790	CSGALNACT1	OMIM:618870
HP:0001252	Hypotonia	4056	LTC4S	OMIM:614037
HP:0001252	Hypotonia	1785	DNM2	OMIM:615368
HP:0001252	Hypotonia	64218	SEMA4A	ORPHA:440437
HP:0001252	Hypotonia	472	ATM	ORPHA:440437
HP:0001252	Hypotonia	5426	POLE	ORPHA:440437
HP:0001252	Hypotonia	5426	POLE	ORPHA:85173
HP:0001252	Hypotonia	675	BRCA2	ORPHA:440437
HP:0001252	Hypotonia	657	BMPR1A	ORPHA:440437
HP:0001252	Hypotonia	6224	RPS20	ORPHA:440437
HP:0001252	Hypotonia	4595	MUTYH	ORPHA:440437
HP:0001252	Hypotonia	5424	POLD1	ORPHA:440437
HP:0001252	Hypotonia	11200	CHEK2	ORPHA:440437
HP:0001252	Hypotonia	5610	EIF2AK2	OMIM:618877
HP:0001252	Hypotonia	27102	EIF2AK1	OMIM:618878
HP:0001252	Hypotonia	6660	SOX5	ORPHA:313892
HP:0001252	Hypotonia	9698	PUM1	OMIM:620719
HP:0001252	Hypotonia	1292	COL6A2	OMIM:620727
HP:0001252	Hypotonia	51319	RSRC1	OMIM:618402
HP:0001252	Hypotonia	85365	ALG2	OMIM:616228
HP:0001252	Hypotonia	84504	NKX6-2	OMIM:617560
HP:0001252	Hypotonia	4763	NF1	ORPHA:363700
HP:0001252	Hypotonia	5442	POLRMT	OMIM:619743
HP:0001252	Hypotonia	39	ACAT2	OMIM:614055
HP:0001252	Hypotonia	4297	KMT2A	ORPHA:319182
HP:0001252	Hypotonia	4297	KMT2A	OMIM:605130
HP:0001252	Hypotonia	84314	TMEM107	OMIM:617563
HP:0001252	Hypotonia	833	CARS1	OMIM:618891
HP:0001252	Hypotonia	1293	COL6A3	OMIM:620728
HP:0001252	Hypotonia	4632	MYL1	OMIM:618414
HP:0001252	Hypotonia	79731	NARS2	OMIM:616239
HP:0001252	Hypotonia	79600	TCTN1	ORPHA:475
HP:0001252	Hypotonia	200894	ARL13B	ORPHA:475
HP:0001252	Hypotonia	200894	ARL13B	OMIM:612291
HP:0001252	Hypotonia	9731	CEP104	ORPHA:475
HP:0001252	Hypotonia	219844	HYLS1	ORPHA:475
HP:0001252	Hypotonia	23247	KATNIP	ORPHA:475
HP:0001252	Hypotonia	219854	TMEM218	ORPHA:475
HP:0001252	Hypotonia	9786	KIAA0586	ORPHA:475
HP:0001252	Hypotonia	79867	TCTN2	ORPHA:475
HP:0001252	Hypotonia	79867	TCTN2	OMIM:616654
HP:0001252	Hypotonia	80776	B9D2	ORPHA:475
HP:0001252	Hypotonia	23116	TOGARAM1	ORPHA:475
HP:0001252	Hypotonia	25776	CBY1	ORPHA:475
HP:0001252	Hypotonia	27077	B9D1	ORPHA:475
HP:0001252	Hypotonia	27077	B9D1	OMIM:617120
HP:0001252	Hypotonia	403	ARL3	ORPHA:475
HP:0001252	Hypotonia	54880	BCOR	OMIM:309800
HP:0001252	Hypotonia	51604	PIGT	OMIM:615398
HP:0001252	Hypotonia	51604	PIGT	ORPHA:369837
HP:0001252	Hypotonia	142680	SLC34A3	OMIM:241530
HP:0001252	Hypotonia	8363	H4C11	OMIM:619759
HP:0001252	Hypotonia	5048	PAFAH1B1	ORPHA:217385
HP:0001252	Hypotonia	7531	YWHAE	ORPHA:217385
HP:0001252	Hypotonia	57282	SLC4A10	OMIM:620746
HP:0001252	Hypotonia	8021	NUP214	OMIM:618426
HP:0001252	Hypotonia	2643	GCH1	OMIM:233910
HP:0001252	Hypotonia	8364	H4C3	OMIM:619758
HP:0001252	Hypotonia	23474	ETHE1	OMIM:602473
HP:0001252	Hypotonia	8517	IKBKG	ORPHA:464
HP:0001252	Hypotonia	4247	MGAT2	ORPHA:79329
HP:0001252	Hypotonia	8314	BAP1	OMIM:619762
HP:0001252	Hypotonia	27086	FOXP1	ORPHA:391372
HP:0001252	Hypotonia	59336	PRDM13	OMIM:619761
HP:0001252	Hypotonia	6942	TCF20	OMIM:618430
HP:0001252	Hypotonia	54487	DGCR8	OMIM:192430
HP:0001252	Hypotonia	8214	DGCR6	OMIM:192430
HP:0001252	Hypotonia	8220	ESS2	OMIM:192430
HP:0001252	Hypotonia	9993	DGCR2	OMIM:192430
HP:0001252	Hypotonia	11261	CHP1	OMIM:618438
HP:0001252	Hypotonia	51341	ZBTB7A	OMIM:619769
HP:0001252	Hypotonia	9338	TCEAL1	OMIM:301094
HP:0001252	Hypotonia	2271	FH	OMIM:606812
HP:0001252	Hypotonia	23556	PIGN	OMIM:614080
HP:0001252	Hypotonia	7030	TFE3	OMIM:301066
HP:0001252	Hypotonia	51651	PTRH2	OMIM:616263
HP:0001252	Hypotonia	23162	MAPK8IP3	OMIM:618443
HP:0001252	Hypotonia	4123	MAN2C1	OMIM:619775
HP:0001252	Hypotonia	54941	RNF125	OMIM:616260
HP:0001252	Hypotonia	7994	KAT6A	OMIM:616268
HP:0001252	Hypotonia	23219	FBXO28	OMIM:619777
HP:0001252	Hypotonia	10195	ALG3	ORPHA:79321
HP:0001252	Hypotonia	367	AR	ORPHA:481
HP:0001252	Hypotonia	51645	PPIL1	OMIM:619301
HP:0001252	Hypotonia	8295	TRRAP	OMIM:618454
HP:0001252	Hypotonia	4567	MT-TL1	ORPHA:480
HP:0001252	Hypotonia	51362	CDC40	OMIM:619302
HP:0001252	Hypotonia	1892	ECHS1	OMIM:616277
HP:0001252	Hypotonia	51117	COQ4	OMIM:616276
HP:0001252	Hypotonia	51013	EXOSC1	OMIM:619304
HP:0001252	Hypotonia	27145	FILIP1	OMIM:620775
HP:0001252	Hypotonia	140679	SLC32A1	OMIM:620774
HP:0001252	Hypotonia	78987	CRELD1	OMIM:620771
HP:0001252	Hypotonia	9900	SV2A	OMIM:620772
HP:0001252	Hypotonia	846	CASR	OMIM:239200
HP:0001252	Hypotonia	846	CASR	ORPHA:417
HP:0001252	Hypotonia	7080	NKX2-1	OMIM:610978
HP:0001252	Hypotonia	7080	NKX2-1	ORPHA:95713
HP:0001252	Hypotonia	2260	FGFR1	ORPHA:478
HP:0001252	Hypotonia	10371	SEMA3A	ORPHA:478
HP:0001252	Hypotonia	81848	SPRY4	ORPHA:478
HP:0001252	Hypotonia	23767	FLRT3	ORPHA:478
HP:0001252	Hypotonia	128674	PROKR2	ORPHA:478
HP:0001252	Hypotonia	79625	NDNF	ORPHA:478
HP:0001252	Hypotonia	2253	FGF8	ORPHA:478
HP:0001252	Hypotonia	389549	FEZF1	ORPHA:478
HP:0001252	Hypotonia	3730	ANOS1	ORPHA:478
HP:0001252	Hypotonia	54756	IL17RD	ORPHA:478
HP:0001252	Hypotonia	285025	CCDC141	ORPHA:478
HP:0001252	Hypotonia	60675	PROK2	ORPHA:478
HP:0001252	Hypotonia	1848	DUSP6	ORPHA:478
HP:0001252	Hypotonia	6870	TACR3	ORPHA:478
HP:0001252	Hypotonia	55717	WDR11	ORPHA:478
HP:0001252	Hypotonia	9394	HS6ST1	ORPHA:478
HP:0001252	Hypotonia	8822	FGF17	ORPHA:478
HP:0001252	Hypotonia	79944	L2HGDH	ORPHA:79314
HP:0001252	Hypotonia	84706	GPT2	OMIM:616281
HP:0001252	Hypotonia	6492	SIM1	ORPHA:369873
HP:0001252	Hypotonia	5898	RALA	OMIM:619311
HP:0001252	Hypotonia	54892	NCAPG2	OMIM:618460
HP:0001252	Hypotonia	112	ADCY6	OMIM:616287
HP:0001252	Hypotonia	112	ADCY6	ORPHA:2680
HP:0001252	Hypotonia	8506	CNTNAP1	OMIM:616286
HP:0001252	Hypotonia	8506	CNTNAP1	ORPHA:2680
HP:0001252	Hypotonia	79903	NAA60	OMIM:620786
HP:0001252	Hypotonia	9256	TSPOAP1	ORPHA:101150
HP:0001252	Hypotonia	7054	TH	ORPHA:101150
HP:0001252	Hypotonia	84320	ACBD6	OMIM:620785
HP:0001252	Hypotonia	11267	SNF8	OMIM:620783
HP:0001252	Hypotonia	10102	TSFM	OMIM:610505
HP:0001252	Hypotonia	2202	EFEMP1	OMIM:620780
HP:0001252	Hypotonia	51412	ACTL6B	OMIM:618470
HP:0001252	Hypotonia	22854	NTNG1	ORPHA:3095
HP:0001252	Hypotonia	9568	GABBR2	ORPHA:3095
HP:0001252	Hypotonia	4204	MECP2	ORPHA:3095
HP:0001252	Hypotonia	4204	MECP2	OMIM:300260
HP:0001252	Hypotonia	29998	BICRA	OMIM:619325
HP:0001252	Hypotonia	6651	SON	OMIM:617140
HP:0001252	Hypotonia	51601	LIPT1	OMIM:616299
HP:0001252	Hypotonia	23030	KDM4B	OMIM:619320
HP:0001252	Hypotonia	7453	WARS1	OMIM:620317
HP:0001252	Hypotonia	157922	CAMSAP1	OMIM:620316
HP:0001252	Hypotonia	55503	TRPV6	ORPHA:417
HP:0001252	Hypotonia	84892	POMGNT2	ORPHA:899
HP:0001252	Hypotonia	84892	POMGNT2	OMIM:614830
HP:0001252	Hypotonia	1282	COL4A1	ORPHA:899
HP:0001252	Hypotonia	10329	RXYLT1	ORPHA:899
HP:0001252	Hypotonia	84197	POMK	ORPHA:899
HP:0001252	Hypotonia	8869	ST3GAL5	OMIM:609056
HP:0001252	Hypotonia	161725	OTUD7A	OMIM:620790
HP:0001252	Hypotonia	1725	DHPS	OMIM:618480
HP:0001252	Hypotonia	25929	GEMIN5	OMIM:619333
HP:0001252	Hypotonia	2560	GABRB1	OMIM:617153
HP:0001252	Hypotonia	23221	RHOBTB2	OMIM:618004
HP:0001252	Hypotonia	2530	FUT8	OMIM:618005
HP:0001252	Hypotonia	54496	PRMT7	OMIM:617157
HP:0001252	Hypotonia	23345	SYNE1	OMIM:618484
HP:0001252	Hypotonia	23345	SYNE1	ORPHA:98853
HP:0001252	Hypotonia	1108	CHD4	OMIM:617159
HP:0001252	Hypotonia	9969	MED13	OMIM:618009
HP:0001252	Hypotonia	10157	AASS	OMIM:238700
HP:0001252	Hypotonia	23389	MED13L	ORPHA:369891
HP:0001252	Hypotonia	6712	SPTBN2	OMIM:600224
HP:0001252	Hypotonia	8091	HMGA2	ORPHA:94063
HP:0001252	Hypotonia	23592	LEMD3	ORPHA:94063
HP:0001252	Hypotonia	26276	VPS33B	OMIM:208085
HP:0001252	Hypotonia	774	CACNA1B	OMIM:618497
HP:0001252	Hypotonia	1822	ATN1	OMIM:618494
HP:0001252	Hypotonia	4126	MANBA	OMIM:248510
HP:0001252	Hypotonia	2257	FGF12	OMIM:617166
HP:0001252	Hypotonia	3930	LBR	OMIM:618019
HP:0001252	Hypotonia	1280	COL2A1	OMIM:183900
HP:0001252	Hypotonia	60386	SLC25A19	ORPHA:99742
HP:0001252	Hypotonia	64864	RFX7	OMIM:620330
HP:0001252	Hypotonia	9791	PTDSS1	OMIM:151050
HP:0001252	Hypotonia	9791	PTDSS1	ORPHA:2658
HP:0001252	Hypotonia	37	ACADVL	OMIM:201475
HP:0001252	Hypotonia	5977	DPF2	OMIM:618027
HP:0001252	Hypotonia	5457	POU4F1	OMIM:619352
HP:0001252	Hypotonia	35	ACADS	OMIM:201470
HP:0001252	Hypotonia	26005	C2CD3	ORPHA:434179
HP:0001252	Hypotonia	57514	ARHGAP31	OMIM:100300
HP:0001252	Hypotonia	788	SLC25A20	OMIM:212138
HP:0001252	Hypotonia	8086	AAAS	ORPHA:869
HP:0001252	Hypotonia	55210	ATAD3A	OMIM:617183
HP:0001252	Hypotonia	55210	ATAD3A	OMIM:618810
HP:0001252	Hypotonia	2077	ERF	OMIM:617180
HP:0001252	Hypotonia	285590	SH3PXD2B	OMIM:249420
HP:0001252	Hypotonia	128240	NAXE	OMIM:617186
HP:0001252	Hypotonia	23230	VPS13A	OMIM:200150
HP:0001252	Hypotonia	226	ALDOA	OMIM:611881
HP:0001252	Hypotonia	539	ATP5PO	OMIM:620359
HP:0001252	Hypotonia	1028	CDKN1C	ORPHA:85173
HP:0001252	Hypotonia	55252	ASXL2	OMIM:617190
HP:0001252	Hypotonia	6904	TBCD	OMIM:617193
HP:0001252	Hypotonia	6571	SLC18A2	OMIM:618049
HP:0001252	Hypotonia	1984	EIF5A	OMIM:619376
HP:0001252	Hypotonia	210	ALAD	OMIM:612740
HP:0001252	Hypotonia	5236	PGM1	OMIM:614921
HP:0001252	Hypotonia	3295	HSD17B4	OMIM:261515
HP:0001252	Hypotonia	10295	BCKDK	OMIM:614923
HP:0001252	Hypotonia	124454	EARS2	OMIM:614924
HP:0001252	Hypotonia	55074	OXR1	OMIM:213000
HP:0001252	Hypotonia	129285	PPP1R21	OMIM:619383
HP:0001252	Hypotonia	27072	VPS41	OMIM:619389
HP:0001252	Hypotonia	9054	NFS1	OMIM:619386
HP:0001252	Hypotonia	90952	ESAM	OMIM:620371
HP:0001252	Hypotonia	6584	SLC22A5	OMIM:212140
HP:0001252	Hypotonia	4702	NDUFA8	OMIM:619272
HP:0001252	Hypotonia	27183	VPS4A	OMIM:619273
HP:0001252	Hypotonia	10128	LRPPRC	OMIM:220111
HP:0001252	Hypotonia	10128	LRPPRC	ORPHA:70472
HP:0001252	Hypotonia	158	ADSL	OMIM:103050
HP:0001252	Hypotonia	4574	MT-TS1	OMIM:220110
HP:0001252	Hypotonia	4570	MT-TN	OMIM:220110
HP:0001252	Hypotonia	6834	SURF1	OMIM:220110
HP:0001252	Hypotonia	55777	MBD5	ORPHA:228402
HP:0001252	Hypotonia	9690	UBE3C	OMIM:620270
HP:0001252	Hypotonia	10479	SLC9A6	OMIM:300243
HP:0001252	Hypotonia	8443	GNPAT	OMIM:222765
HP:0001252	Hypotonia	9442	MED27	OMIM:619286
HP:0001252	Hypotonia	1353	COX11	OMIM:620275
HP:0001252	Hypotonia	51360	MBTPS2	ORPHA:2273
HP:0001252	Hypotonia	3899	AFF3	OMIM:619297
HP:0001252	Hypotonia	36	ACADSB	OMIM:610006
HP:0001252	Hypotonia	7841	MOGS	OMIM:606056
HP:0001252	Hypotonia	26523	AGO1	OMIM:620292
HP:0001252	Hypotonia	8802	SUCLG1	OMIM:245400
HP:0001252	Hypotonia	132158	GLYCTK	OMIM:220120
HP:0001252	Hypotonia	4338	MOCS2	OMIM:252160
HP:0001252	Hypotonia	649	BMP1	OMIM:614856
HP:0001252	Hypotonia	5826	ABCD4	OMIM:614857
HP:0001252	Hypotonia	6804	STX1A	ORPHA:904
HP:0001252	Hypotonia	7461	CLIP2	ORPHA:904
HP:0001252	Hypotonia	84277	DNAJC30	ORPHA:904
HP:0001252	Hypotonia	8468	FKBP6	ORPHA:904
HP:0001252	Hypotonia	5982	RFC2	ORPHA:904
HP:0001252	Hypotonia	2969	GTF2I	ORPHA:904
HP:0001252	Hypotonia	3984	LIMK1	ORPHA:904
HP:0001252	Hypotonia	9569	GTF2IRD1	ORPHA:904
HP:0001252	Hypotonia	155382	VPS37D	ORPHA:904
HP:0001252	Hypotonia	155368	METTL27	ORPHA:904
HP:0001252	Hypotonia	114049	BUD23	ORPHA:904
HP:0001252	Hypotonia	7458	EIF4H	ORPHA:904
HP:0001252	Hypotonia	84163	GTF2IRD2	ORPHA:904
HP:0001252	Hypotonia	26608	TBL2	ORPHA:904
HP:0001252	Hypotonia	653361	NCF1	ORPHA:904
HP:0001252	Hypotonia	135886	TMEM270	ORPHA:904
HP:0001252	Hypotonia	9031	BAZ1B	ORPHA:904
HP:0001252	Hypotonia	11340	EXOSC8	ORPHA:2254
HP:0001252	Hypotonia	5393	EXOSC9	ORPHA:2254
HP:0001252	Hypotonia	51010	EXOSC3	ORPHA:2254
HP:0001252	Hypotonia	93210	PGAP3	OMIM:615716
HP:0001252	Hypotonia	4952	OCRL	OMIM:309000
HP:0001252	Hypotonia	728294	D2HGDH	OMIM:600721
HP:0001252	Hypotonia	471	ATIC	OMIM:608688
HP:0001252	Hypotonia	9342	SNAP29	OMIM:609528
HP:0001252	Hypotonia	254065	BRWD3	OMIM:300659
HP:0001252	Hypotonia	50628	GEMIN4	OMIM:617913
HP:0001252	Hypotonia	1384	CRAT	OMIM:617917
HP:0001252	Hypotonia	91574	MTRFR	OMIM:613559
HP:0001252	Hypotonia	85021	REPS1	OMIM:617916
HP:0001252	Hypotonia	2273	FHL1	ORPHA:98863
HP:0001252	Hypotonia	2010	EMD	ORPHA:98863
HP:0001252	Hypotonia	3329	HSPD1	OMIM:612233
HP:0001252	Hypotonia	6310	ATXN1	OMIM:164400
HP:0001252	Hypotonia	79188	TMEM43	ORPHA:98853
HP:0001252	Hypotonia	23224	SYNE2	ORPHA:98853
HP:0001252	Hypotonia	2632	GBE1	OMIM:232500
HP:0001252	Hypotonia	6328	SCN3A	OMIM:617935
HP:0001252	Hypotonia	7545	ZIC1	OMIM:616602
HP:0001252	Hypotonia	27249	MMADHC	OMIM:277410
HP:0001252	Hypotonia	5859	QARS1	OMIM:615760
HP:0001252	Hypotonia	79631	EFL1	OMIM:617941
HP:0001252	Hypotonia	7280	TUBB2A	OMIM:615763
HP:0001252	Hypotonia	30008	EFEMP2	OMIM:614437
HP:0001252	Hypotonia	5172	SLC26A4	ORPHA:95720
HP:0001252	Hypotonia	5172	SLC26A4	ORPHA:95713
HP:0001252	Hypotonia	101929726	MYMX	ORPHA:1358
HP:0001252	Hypotonia	51116	MRPS2	OMIM:617950
HP:0001252	Hypotonia	9512	PMPCB	OMIM:617954
HP:0001252	Hypotonia	405753	DUOXA2	ORPHA:95716
HP:0001252	Hypotonia	6528	SLC5A5	ORPHA:95716
HP:0001252	Hypotonia	7038	TG	ORPHA:95716
HP:0001252	Hypotonia	7173	TPO	ORPHA:95716
HP:0001252	Hypotonia	389434	IYD	ORPHA:95716
HP:0001252	Hypotonia	1482	NKX2-5	ORPHA:95713
HP:0001252	Hypotonia	1482	NKX2-5	ORPHA:95712
HP:0001252	Hypotonia	2304	FOXE1	ORPHA:95713
HP:0001252	Hypotonia	64131	XYLT1	OMIM:615777
HP:0001252	Hypotonia	9056	SLC7A7	OMIM:222700
HP:0001252	Hypotonia	54664	TMEM106B	OMIM:617964
HP:0001252	Hypotonia	7421	VDR	OMIM:277440
HP:0001252	Hypotonia	175	AGA	OMIM:208400
HP:0001252	Hypotonia	27010	TPK1	OMIM:614458
HP:0001252	Hypotonia	11019	LIAS	OMIM:614462
HP:0001252	Hypotonia	56270	WDR45B	OMIM:617977
HP:0001252	Hypotonia	285175	UNC80	ORPHA:371364
HP:0001252	Hypotonia	26576	SRPK3	OMIM:301134
HP:0001252	Hypotonia	23630	KCNE5	ORPHA:86818
HP:0001252	Hypotonia	9949	AMMECR1	ORPHA:86818
HP:0001252	Hypotonia	5162	PDHB	ORPHA:255138
HP:0001252	Hypotonia	51305	KCNK9	OMIM:612292
HP:0001252	Hypotonia	100151683	RNU4ATAC	OMIM:616651
HP:0001252	Hypotonia	54870	QRICH1	OMIM:617982
HP:0001252	Hypotonia	2670	GFAP	ORPHA:363717
HP:0001252	Hypotonia	55704	CCDC88A	OMIM:617507
HP:0001252	Hypotonia	5500	PPP1CB	OMIM:617506
HP:0001252	Hypotonia	54676	GTPBP2	OMIM:617988
HP:0001252	Hypotonia	100506658	OCLN	OMIM:251290
HP:0001252	Hypotonia	139818	DOCK11	OMIM:301109
HP:0001252	Hypotonia	9197	SLC33A1	OMIM:614482
HP:0001252	Hypotonia	200205	IBA57	OMIM:615330
HP:0001252	Hypotonia	25974	MMACHC	ORPHA:79282
HP:0001252	Hypotonia	25974	MMACHC	OMIM:277400
HP:0001252	Hypotonia	5718	PSMD12	OMIM:617516
HP:0001252	Hypotonia	57731	SPTBN4	OMIM:617519
HP:0001252	Hypotonia	2639	GCDH	OMIM:231670
HP:0001252	Hypotonia	51733	UPB1	OMIM:613161
HP:0001252	Hypotonia	18	ABAT	OMIM:613163
HP:0001252	Hypotonia	79587	CARS2	OMIM:616672
HP:0001252	Hypotonia	7543	ZFX	OMIM:301118
HP:0001252	Hypotonia	9181	ARHGEF2	OMIM:617523
HP:0001252	Hypotonia	2110	ETFDH	OMIM:231680
HP:0001252	Hypotonia	2108	ETFA	OMIM:231680
HP:0001252	Hypotonia	2109	ETFB	OMIM:231680
HP:0001252	Hypotonia	5052	PRDX1	OMIM:277400
HP:0001252	Hypotonia	2582	GALE	OMIM:230350
HP:0001252	Hypotonia	8036	SHOC2	OMIM:607721
HP:0001252	Hypotonia	104	ADARB1	OMIM:618862
HP:0001252	Hypotonia	23019	CNOT1	OMIM:618500
HP:0001252	Hypotonia	23019	CNOT1	OMIM:619033
HP:0001252	Hypotonia	28981	IFT81	OMIM:617895
HP:0001252	Hypotonia	50651	SLC45A1	OMIM:617532
HP:0001252	Hypotonia	51569	UFM1	OMIM:617899
HP:0001252	Hypotonia	1024	CDK8	OMIM:618748
HP:0001252	Hypotonia	6659	SOX4	OMIM:618506
HP:0001252	Hypotonia	6228	RPS23	OMIM:617412
HP:0001252	Hypotonia	9254	CACNA2D2	OMIM:618501
HP:0001252	Hypotonia	84334	COA8	ORPHA:436271
HP:0001252	Hypotonia	116931	MED12L	OMIM:618872
HP:0001252	Hypotonia	10026	PIGK	OMIM:618879
HP:0001252	Hypotonia	55690	PACS1	OMIM:615009
HP:0001252	Hypotonia	55904	KMT2E	OMIM:618512
HP:0001252	Hypotonia	10559	SLC35A1	OMIM:603585
HP:0001252	Hypotonia	2590	GALNT2	OMIM:618885
HP:0001252	Hypotonia	55154	MSTO1	OMIM:617675
HP:0001252	Hypotonia	55154	MSTO1	ORPHA:502423
HP:0001252	Hypotonia	4620	MYH2	OMIM:605637
HP:0001252	Hypotonia	6872	TAF1	ORPHA:480907
HP:0001252	Hypotonia	6872	TAF1	OMIM:300966
HP:0001252	Hypotonia	8726	EED	OMIM:617561
HP:0001252	Hypotonia	4330	MN1	OMIM:618774
HP:0001252	Hypotonia	88	ACTN2	OMIM:618654
HP:0001252	Hypotonia	388962	BOLA3	OMIM:614299
HP:0001252	Hypotonia	8120	AP3B2	ORPHA:442835
HP:0001252	Hypotonia	8120	AP3B2	OMIM:617276
HP:0001252	Hypotonia	10991	SLC38A3	ORPHA:442835
HP:0001252	Hypotonia	2561	GABRB2	ORPHA:442835
HP:0001252	Hypotonia	2558	GABRA5	ORPHA:442835
HP:0001252	Hypotonia	2558	GABRA5	OMIM:618559
HP:0001252	Hypotonia	2906	GRIN2D	ORPHA:442835
HP:0001252	Hypotonia	116150	NUS1	ORPHA:442835
HP:0001252	Hypotonia	116150	NUS1	OMIM:617082
HP:0001252	Hypotonia	51741	WWOX	ORPHA:442835
HP:0001252	Hypotonia	25977	NECAP1	ORPHA:442835
HP:0001252	Hypotonia	25977	NECAP1	OMIM:615833
HP:0001252	Hypotonia	16	AARS1	ORPHA:442835
HP:0001252	Hypotonia	16	AARS1	ORPHA:33364
HP:0001252	Hypotonia	55152	DALRD3	ORPHA:442835
HP:0001252	Hypotonia	55152	DALRD3	OMIM:618910
HP:0001252	Hypotonia	26999	CYFIP2	ORPHA:442835
HP:0001252	Hypotonia	26999	CYFIP2	OMIM:618008
HP:0001252	Hypotonia	25973	PARS2	ORPHA:442835
HP:0001252	Hypotonia	23097	CDK19	ORPHA:442835
HP:0001252	Hypotonia	22906	TRAK1	ORPHA:442835
HP:0001252	Hypotonia	79876	UBA5	ORPHA:442835
HP:0001252	Hypotonia	6506	SLC1A2	ORPHA:442835
HP:0001252	Hypotonia	6506	SLC1A2	OMIM:617105
HP:0001252	Hypotonia	284111	SLC13A5	ORPHA:442835
HP:0001252	Hypotonia	22866	CNKSR2	ORPHA:442835
HP:0001252	Hypotonia	79947	DHDDS	ORPHA:442835
HP:0001252	Hypotonia	79947	DHDDS	OMIM:617836
HP:0001252	Hypotonia	3782	KCNN3	OMIM:618658
HP:0001252	Hypotonia	6905	TBCE	OMIM:617207
HP:0001252	Hypotonia	6905	TBCE	ORPHA:496756
HP:0001252	Hypotonia	284439	SLC25A42	OMIM:618416
HP:0001252	Hypotonia	253738	EBF3	OMIM:617330
HP:0001252	Hypotonia	1186	CLCN7	OMIM:618541
HP:0001252	Hypotonia	339983	NAT8L	OMIM:614063
HP:0001252	Hypotonia	23512	SUZ12	OMIM:618786
HP:0001252	Hypotonia	29081	METTL5	OMIM:618665
HP:0001252	Hypotonia	8879	SGPL1	OMIM:617575
HP:0001252	Hypotonia	55773	TBC1D23	OMIM:617695
HP:0001252	Hypotonia	8558	CDK10	OMIM:617694
HP:0001252	Hypotonia	51633	OTUD6B	OMIM:617452
HP:0001252	Hypotonia	51633	OTUD6B	ORPHA:505237
HP:0001252	Hypotonia	2592	GALT	OMIM:230400
HP:0001252	Hypotonia	8818	DPM2	OMIM:615042
HP:0001252	Hypotonia	8818	DPM2	ORPHA:329178
HP:0001252	Hypotonia	122961	ISCA2	OMIM:616370
HP:0001252	Hypotonia	5621	PRNP	ORPHA:157941
HP:0001252	Hypotonia	7358	UGDH	OMIM:618792
HP:0001252	Hypotonia	9772	TMEM94	OMIM:618316
HP:0001252	Hypotonia	51567	TDP2	ORPHA:404493
HP:0001252	Hypotonia	51567	TDP2	OMIM:616949
HP:0001252	Hypotonia	23007	PLCH1	OMIM:619895
HP:0001252	Hypotonia	9922	IQSEC1	OMIM:618687
HP:0001252	Hypotonia	2562	GABRB3	OMIM:617113
HP:0001252	Hypotonia	9725	TMEM63A	OMIM:618688
HP:0001252	Hypotonia	404672	GTF2H5	ORPHA:33364
HP:0001252	Hypotonia	7737	RNF113A	ORPHA:33364
HP:0001252	Hypotonia	136647	MPLKIP	ORPHA:33364
HP:0001252	Hypotonia	6897	TARS1	ORPHA:33364
HP:0001252	Hypotonia	2071	ERCC3	ORPHA:33364
HP:0001252	Hypotonia	2961	GTF2E2	ORPHA:33364
HP:0001252	Hypotonia	7040	TGFB1	OMIM:618213
HP:0001252	Hypotonia	5587	PRKD1	OMIM:617364
HP:0001252	Hypotonia	291	SLC25A4	ORPHA:254892
HP:0001252	Hypotonia	291	SLC25A4	OMIM:617184
HP:0001252	Hypotonia	4625	MYH7	ORPHA:324604
HP:0001252	Hypotonia	7273	TTN	ORPHA:324604
HP:0001252	Hypotonia	7273	TTN	ORPHA:169186
HP:0001252	Hypotonia	9488	PIGB	OMIM:618580
HP:0001252	Hypotonia	2775	GNAO1	OMIM:617493
HP:0001252	Hypotonia	54517	PUS7	OMIM:618342
HP:0001252	Hypotonia	56203	LMOD3	OMIM:616165
HP:0001252	Hypotonia	90459	ERI1	OMIM:620663
HP:0001252	Hypotonia	50814	NSDHL	ORPHA:251383
HP:0001252	Hypotonia	50814	NSDHL	OMIM:300831
HP:0001252	Hypotonia	100033413	SNORD116-1	OMIM:176270
HP:0001252	Hypotonia	8924	HERC2	OMIM:176270
HP:0001252	Hypotonia	8924	HERC2	OMIM:615516
HP:0001252	Hypotonia	23742	NPAP1	OMIM:176270
HP:0001252	Hypotonia	338433	SNORD115-1	OMIM:176270
HP:0001252	Hypotonia	7681	MKRN3	OMIM:176270
HP:0001252	Hypotonia	145624	PWAR1	OMIM:176270
HP:0001252	Hypotonia	3653	IPW	OMIM:176270
HP:0001252	Hypotonia	791114	PWRN1	OMIM:176270
HP:0001252	Hypotonia	1120	CHKB	OMIM:602541
HP:0001252	Hypotonia	56521	DNAJC12	OMIM:617384
HP:0001252	Hypotonia	10978	CLP1	ORPHA:411493
HP:0001252	Hypotonia	3417	IDH1	ORPHA:99646
HP:0001252	Hypotonia	28982	FLVCR1	ORPHA:88628
HP:0001252	Hypotonia	51132	RLIM	OMIM:300978
HP:0001252	Hypotonia	11274	USP18	OMIM:617397
HP:0001252	Hypotonia	201163	FLCN	OMIM:610883
HP:0001252	Hypotonia	6821	SUOX	OMIM:272300
HP:0001252	Hypotonia	22827	PUF60	ORPHA:508488
HP:0001252	Hypotonia	1781	DYNC1I2	OMIM:618492
HP:0001252	Hypotonia	56776	FMN2	OMIM:616193
HP:0001252	Hypotonia	23111	SPART	ORPHA:101000
HP:0001252	Hypotonia	4556	MT-TE	ORPHA:254864
HP:0001252	Hypotonia	63931	MRPS14	OMIM:618378
HP:0001252	Hypotonia	4714	NDUFB8	OMIM:618252
HP:0001252	Hypotonia	5283	PIGH	OMIM:618010
HP:0001252	Hypotonia	8943	AP3D1	OMIM:617050
HP:0001252	Hypotonia	64849	SLC13A3	OMIM:618384
HP:0001252	Hypotonia	348180	CTU2	OMIM:618142
HP:0001252	Hypotonia	94005	PIGS	OMIM:618143
HP:0001252	Hypotonia	90522	YIF1B	OMIM:619125
HP:0001252	Hypotonia	5058	PAK1	OMIM:618158
HP:0001252	Hypotonia	10651	MTX2	OMIM:619127
HP:0001252	Hypotonia	9326	ZNHIT3	OMIM:260565
HP:0001252	Hypotonia	22983	MAST1	OMIM:618273
HP:0001252	Hypotonia	7050	TGIF1	ORPHA:280195
HP:0001252	Hypotonia	4838	NODAL	ORPHA:280195
HP:0001252	Hypotonia	6469	SHH	ORPHA:280195
HP:0001252	Hypotonia	7546	ZIC2	ORPHA:280195
HP:0001252	Hypotonia	6491	STIL	ORPHA:280195
HP:0001252	Hypotonia	2619	GAS1	ORPHA:280195
HP:0001252	Hypotonia	84976	DISP1	ORPHA:280195
HP:0001252	Hypotonia	2736	GLI2	ORPHA:280195
HP:0001252	Hypotonia	8928	FOXH1	ORPHA:280195
HP:0001252	Hypotonia	6997	CRIPTO	ORPHA:280195
HP:0001252	Hypotonia	50937	CDON	ORPHA:280195
HP:0001252	Hypotonia	79143	MBOAT7	OMIM:617188
HP:0001252	Hypotonia	2193	FARSA	OMIM:619013
HP:0001252	Hypotonia	89970	RSPRY1	ORPHA:457395
HP:0001252	Hypotonia	89970	RSPRY1	OMIM:616723
HP:0001252	Hypotonia	2733	GLE1	OMIM:611890
HP:0001252	Hypotonia	55005	RMND1	OMIM:614922
HP:0001252	Hypotonia	10020	GNE	ORPHA:3166
HP:0001252	Hypotonia	8139	GAN	ORPHA:643
HP:0001252	Hypotonia	11011	TLK2	OMIM:618050
HP:0001252	Hypotonia	2316	FLNA	ORPHA:555877
HP:0001252	Hypotonia	11342	RNF13	ORPHA:544503
HP:0001252	Hypotonia	871	SERPINH1	OMIM:613848
HP:0001252	Hypotonia	6095	RORA	OMIM:618060
HP:0001252	Hypotonia	11198	SUPT16H	ORPHA:261229
HP:0001252	Hypotonia	324	APC	ORPHA:261584
HP:0001252	Hypotonia	10046	MAMLD1	ORPHA:456328
HP:0001252	Hypotonia	4534	MTM1	ORPHA:456328
HP:0001252	Hypotonia	80308	FLAD1	OMIM:255100
HP:0001252	Hypotonia	1291	COL6A1	ORPHA:75840
HP:0001252	Hypotonia	2617	GARS1	OMIM:619042
HP:0001252	Hypotonia	51218	GLRX5	ORPHA:401866
HP:0001252	Hypotonia	6341	SCO1	OMIM:619048
HP:0001252	Hypotonia	1352	COX10	OMIM:619046
HP:0001252	Hypotonia	1763	DNA2	ORPHA:352470
HP:0001252	Hypotonia	199857	ALG14	ORPHA:353327
HP:0001252	Hypotonia	87178	PNPT1	ORPHA:319514
HP:0001252	Hypotonia	1340	COX6B1	OMIM:619051
HP:0001252	Hypotonia	1185	CLCN6	OMIM:619173
HP:0001252	Hypotonia	100131801	PET100	OMIM:619055
HP:0001252	Hypotonia	84665	MYPN	ORPHA:171881
HP:0001252	Hypotonia	84665	MYPN	ORPHA:171439
HP:0001252	Hypotonia	9739	SETD1A	OMIM:619056
HP:0001252	Hypotonia	8792	TNFRSF11A	OMIM:612301
HP:0001252	Hypotonia	10716	TBR1	OMIM:606053
HP:0001252	Hypotonia	1339	COX6A2	OMIM:619062
HP:0001252	Hypotonia	1327	COX4I1	OMIM:619060
HP:0001252	Hypotonia	26053	AUTS2	ORPHA:352490
HP:0001252	Hypotonia	26053	AUTS2	OMIM:615834
HP:0001252	Hypotonia	1906	EDN1	ORPHA:137888
HP:0001252	Hypotonia	2773	GNAI3	ORPHA:137888
HP:0001252	Hypotonia	53834	FGFRL1	OMIM:194190
HP:0001252	Hypotonia	2615	LRRC32	OMIM:619074
HP:0001252	Hypotonia	4953	ODC1	OMIM:619075
HP:0001252	Hypotonia	10290	SPEG	OMIM:615959
HP:0001252	Hypotonia	10290	SPEG	ORPHA:169186
HP:0001252	Hypotonia	90624	LYRM7	OMIM:615838
HP:0001252	Hypotonia	5582	PRKCG	ORPHA:98763
HP:0001252	Hypotonia	6558	SLC12A2	OMIM:619083
HP:0001252	Hypotonia	6558	SLC12A2	OMIM:619080
HP:0001252	Hypotonia	25814	ATXN10	ORPHA:98761
HP:0001252	Hypotonia	64419	MTMR14	OMIM:160150
HP:0001252	Hypotonia	64419	MTMR14	ORPHA:169189
HP:0001252	Hypotonia	5594	MAPK1	OMIM:619087
HP:0001252	Hypotonia	5340	PLG	OMIM:217090
HP:0001252	Hypotonia	25828	TXN2	OMIM:616811
HP:0001252	Hypotonia	5092	PCBD1	OMIM:264070
HP:0001252	Hypotonia	4677	NARS1	OMIM:619091
HP:0001252	Hypotonia	4677	NARS1	OMIM:619092
HP:0001252	Hypotonia	9147	NEMF	OMIM:619099
HP:0001252	Hypotonia	6389	SDHA	ORPHA:3208
HP:0001252	Hypotonia	644096	SDHAF1	ORPHA:3208
HP:0001252	Hypotonia	9928	KIF14	OMIM:617914
HP:0001252	Hypotonia	390594	KBTBD13	ORPHA:171439
HP:0001252	Hypotonia	4703	NEB	ORPHA:171439
HP:0001252	Hypotonia	10324	KLHL41	ORPHA:171439
HP:0001252	Hypotonia	51322	WAC	OMIM:616708
HP:0001252	Hypotonia	84317	CCDC115	OMIM:616828
HP:0001252	Hypotonia	28962	OSTM1	OMIM:259720
HP:0001252	Hypotonia	10243	GPHN	OMIM:615501
HP:0001252	Hypotonia	196528	ARID2	OMIM:617808
HP:0001252	Hypotonia	10075	HUWE1	OMIM:309590
HP:0001252	Hypotonia	274	BIN1	ORPHA:169186
HP:0001252	Hypotonia	274	BIN1	ORPHA:169189
HP:0001252	Hypotonia	53616	ADAM22	OMIM:617933
HP:0001252	Hypotonia	85358	SHANK3	OMIM:606232
HP:0001252	Hypotonia	26115	TANC2	OMIM:618906
HP:0001252	Hypotonia	4618	MYF6	ORPHA:169189
HP:0001252	Hypotonia	84162	BLTP1	OMIM:617822
HP:0001252	Hypotonia	23291	FBXW11	OMIM:618914
HP:0001252	Hypotonia	998	CDC42	OMIM:616737
HP:0001252	Hypotonia	51008	ASCC1	OMIM:616867
HP:0001252	Hypotonia	6606	SMN1	OMIM:253300
HP:0001252	Hypotonia	10943	MSL3	OMIM:301032
HP:0001252	Hypotonia	57511	COG6	OMIM:614576
HP:0001252	Hypotonia	23065	EMC1	OMIM:616875
HP:0001252	Hypotonia	128989	TANGO2	OMIM:616878
HP:0001252	Hypotonia	1859	DYRK1A	OMIM:614104
HP:0001252	Hypotonia	23443	SLC35A3	OMIM:615553
HP:0001252	Hypotonia	29957	SLC25A24	OMIM:612289
HP:0001252	Hypotonia	64857	PLEKHG2	OMIM:616763
HP:0001252	Hypotonia	8936	WASF1	OMIM:618707
HP:0001252	Hypotonia	55617	TASP1	OMIM:618950
HP:0001252	Hypotonia	28957	MRPS28	OMIM:618958
HP:0001252	Hypotonia	54802	TRIT1	OMIM:617873
HP:0001252	Hypotonia	51780	KDM3B	OMIM:618846
HP:0001252	Hypotonia	51317	PHF21A	OMIM:618725
HP:0001252	Hypotonia	2186	BPTF	OMIM:617755
HP:0001252	Hypotonia	738	VPS51	OMIM:618606
HP:0001252	Hypotonia	84700	MYO18B	OMIM:616549
HP:0001252	Hypotonia	5430	POLR2A	OMIM:618603
HP:0001252	Hypotonia	1585	CYP11B2	ORPHA:556030
HP:0001252	Hypotonia	4848	CNOT2	OMIM:618608
HP:0001252	Hypotonia	1468	SLC25A10	OMIM:618972
HP:0001252	Hypotonia	5087	PBX1	OMIM:617641
HP:0001252	Hypotonia	115286	SLC25A26	OMIM:616794
HP:0001252	Hypotonia	92935	MARS2	OMIM:616430
HP:0001252	Hypotonia	4858	NOVA2	OMIM:618859
HP:0001252	Hypotonia	25871	NEPRO	OMIM:618853
HP:0001252	Hypotonia	1460	CSNK2B	OMIM:618732
HP:0001252	Hypotonia	4654	MYOD1	OMIM:618975
HP:0001252	Hypotonia	8449	DHX16	OMIM:618733
HP:0001252	Hypotonia	22868	FASTKD2	OMIM:618855
HP:0001252	Hypotonia	25970	SH2B1	ORPHA:261222
HP:0001252	Hypotonia	3008	H1-4	OMIM:617537
HP:0001252	Hypotonia	23261	CAMTA1	ORPHA:314647
HP:0001252	Hypotonia	23261	CAMTA1	OMIM:614756
HP:0001252	Hypotonia	3508	IGHMBP2	OMIM:604320
HP:0001252	Hypotonia	51021	MRPS16	OMIM:610498
HP:0001252	Hypotonia	4929	NR4A2	ORPHA:1617
HP:0001252	Hypotonia	2627	GATA6	ORPHA:2255
HP:0001252	Hypotonia	375748	ERCC6L2	OMIM:615715
HP:0001252	Hypotonia	285362	SUMF1	OMIM:272200
HP:0001252	Hypotonia	285362	SUMF1	ORPHA:585
HP:0001252	Hypotonia	8050	PDHX	OMIM:245349
HP:0001252	Hypotonia	51244	CCDC174	OMIM:616816
HP:0001252	Hypotonia	11107	PRDM5	ORPHA:90354
HP:0001252	Hypotonia	84627	ZNF469	ORPHA:90354
HP:0001252	Hypotonia	55275	VPS53	OMIM:615851
HP:0001252	Hypotonia	54916	TMEM260	OMIM:617478
HP:0001252	Hypotonia	6314	ATXN7	ORPHA:94147
HP:0001252	Hypotonia	6567	SLC16A2	ORPHA:59
HP:0001252	Hypotonia	6567	SLC16A2	OMIM:300523
HP:0001252	Hypotonia	6927	HNF1A	ORPHA:324575
HP:0001252	Hypotonia	57107	PDSS2	OMIM:614652
HP:0001252	Hypotonia	6857	SYT1	OMIM:618218
HP:0001252	Hypotonia	57459	GATAD2B	OMIM:615074
HP:0001252	Hypotonia	79912	PYROXD1	OMIM:617258
HP:0001252	Hypotonia	51807	TUBA8	ORPHA:250972
HP:0001252	Hypotonia	203547	VMA21	OMIM:310440
HP:0001252	Hypotonia	5575	PRKAR1B	OMIM:619680
HP:0001252	Hypotonia	7707	ZNF148	OMIM:617260
HP:0001252	Hypotonia	5934	RBL2	OMIM:619690
HP:0001252	Hypotonia	3172	HNF4A	ORPHA:263455
HP:0001252	Hypotonia	5144	PDE4D	ORPHA:439822
HP:0001252	Hypotonia	23040	MYT1L	OMIM:616521
HP:0001252	Hypotonia	23040	MYT1L	ORPHA:647799
HP:0001252	Hypotonia	8087	FXR1	OMIM:618822
HP:0001252	Hypotonia	8087	FXR1	OMIM:618823
HP:0001252	Hypotonia	5293	PIK3CD	ORPHA:221139
HP:0001252	Hypotonia	90417	KNSTRN	ORPHA:221139
HP:0001252	Hypotonia	8405	SPOP	OMIM:618829
HP:0001252	Hypotonia	10283	CWC27	ORPHA:166035
HP:0001252	Hypotonia	2893	GRIA4	OMIM:617864
HP:0001252	Hypotonia	7284	TUFM	OMIM:610678
HP:0001252	Hypotonia	5331	PLCB3	OMIM:618961
HP:0001252	Hypotonia	1315	COPB1	OMIM:619255
HP:0001252	Hypotonia	131118	DNAJC19	ORPHA:66634
HP:0001252	Hypotonia	2806	GOT2	OMIM:618721
HP:0001252	Hypotonia	29928	TIMM22	OMIM:618851
HP:0001252	Hypotonia	57728	WDR19	OMIM:614378
HP:0001252	Hypotonia	27445	PCLO	OMIM:608027
HP:0001252	Hypotonia	23312	DMXL2	OMIM:618663
HP:0001252	Hypotonia	3704	ITPA	OMIM:616647
HP:0001252	Hypotonia	131377	KLHL40	ORPHA:171430
HP:0001252	Hypotonia	23299	BICD2	OMIM:618291
HP:0001252	Hypotonia	4524	MTHFR	ORPHA:395
HP:0001252	Hypotonia	4576	MT-TT	ORPHA:254857
HP:0001252	Hypotonia	54332	GDAP1	ORPHA:99948
HP:0001252	Hypotonia	5138	PDE2A	OMIM:619150
HP:0001252	Hypotonia	3145	HMBS	OMIM:620704
HP:0001252	Hypotonia	10973	ASCC3	OMIM:620700
HP:0001252	Hypotonia	7360	UGP2	OMIM:618744
HP:0001252	Hypotonia	347734	SLC35B2	OMIM:620269
HP:0001252	Hypotonia	80222	TARS2	OMIM:615918
HP:0001252	Hypotonia	57165	GJC2	OMIM:608804
HP:0001252	Hypotonia	6531	SLC6A3	ORPHA:238455
HP:0001252	Hypotonia	6531	SLC6A3	OMIM:613135
HP:0001252	Hypotonia	51112	TRAPPC12	ORPHA:500144
HP:0001252	Hypotonia	51112	TRAPPC12	OMIM:617669
HP:0001252	Hypotonia	6536	SLC6A9	OMIM:617301
HP:0001252	Hypotonia	51506	UFC1	OMIM:618076
HP:0001252	Hypotonia	4010	LMX1B	ORPHA:495818
HP:0001252	Hypotonia	375387	NRROS	OMIM:618875
HP:0001252	Hypotonia	10565	ARFGEF1	OMIM:619964
HP:0001252	Hypotonia	55163	PNPO	ORPHA:79096
HP:0001252	Hypotonia	55163	PNPO	OMIM:610090
HP:0001252	Hypotonia	2911	GRM1	OMIM:614831
HP:0001252	Hypotonia	25839	COG4	ORPHA:263501
HP:0001252	Hypotonia	25839	COG4	OMIM:613489
HP:0001252	Hypotonia	4718	NDUFC2	OMIM:619170
HP:0001252	Hypotonia	4001	LMNB1	OMIM:619179
HP:0001252	Hypotonia	8913	CACNA1G	OMIM:618087
HP:0001252	Hypotonia	6844	VAMP2	OMIM:618760
HP:0001252	Hypotonia	3064	HTT	OMIM:617435
HP:0001252	Hypotonia	5095	PCCA	OMIM:606054
HP:0001252	Hypotonia	5096	PCCB	OMIM:606054
HP:0001252	Hypotonia	10087	CERT1	OMIM:616351
HP:0001252	Hypotonia	25930	PTPN23	OMIM:618890
HP:0001252	Hypotonia	55361	PI4K2A	OMIM:620732
HP:0001252	Hypotonia	27089	UQCRQ	OMIM:615159
HP:0001252	Hypotonia	9255	AIMP1	OMIM:260600
HP:0001252	Hypotonia	1660	DHX9	OMIM:620988
HP:0001252	Hypotonia	116115	ZNF526	OMIM:619877
HP:0001252	Hypotonia	7701	ZNF142	OMIM:618425
HP:0001252	Hypotonia	3098	HK1	OMIM:618547
HP:0001252	Hypotonia	10846	PDE10A	OMIM:616921
HP:0001252	Hypotonia	10846	PDE10A	ORPHA:494526
HP:0001252	Hypotonia	80704	SLC19A3	OMIM:607483
HP:0001252	Hypotonia	84992	PIGY	OMIM:616809
HP:0001252	Hypotonia	93986	FOXP2	ORPHA:251061
HP:0001252	Hypotonia	5700	PSMC1	OMIM:620071
HP:0001252	Hypotonia	3786	KCNQ3	ORPHA:1949
HP:0001252	Hypotonia	1615	DARS1	OMIM:615281
HP:0001252	Hypotonia	55739	NAXD	OMIM:618321
HP:0001252	Hypotonia	7143	TNR	OMIM:619653
HP:0001252	Hypotonia	5917	RARS1	OMIM:616140
HP:0001252	Hypotonia	57479	PRR12	OMIM:619539
HP:0001252	Hypotonia	51227	PIGP	OMIM:617599
HP:0001252	Hypotonia	197322	ACSF3	ORPHA:289504
HP:0001252	Hypotonia	10533	ATG7	OMIM:619422
HP:0001252	Hypotonia	56160	NSMCE3	OMIM:617241
HP:0001252	Hypotonia	3658	IREB2	OMIM:618451
HP:0001252	Hypotonia	51025	PAM16	OMIM:613320
HP:0001252	Hypotonia	171546	SPTSSA	OMIM:620416
HP:0001252	Hypotonia	171546	SPTSSA	OMIM:620417
HP:0001252	Hypotonia	5910	RAP1GDS1	OMIM:620655
HP:0001252	Hypotonia	10535	RNASEH2A	ORPHA:51
HP:0001252	Hypotonia	25939	SAMHD1	ORPHA:51
HP:0001252	Hypotonia	25939	SAMHD1	OMIM:612952
HP:0001252	Hypotonia	79621	RNASEH2B	ORPHA:51
HP:0001252	Hypotonia	103	ADAR	ORPHA:51
HP:0001252	Hypotonia	11277	TREX1	ORPHA:51
HP:0001252	Hypotonia	11277	TREX1	OMIM:225750
HP:0001252	Hypotonia	100147744	RNU7-1	ORPHA:51
HP:0001252	Hypotonia	100147744	RNU7-1	OMIM:619487
HP:0001252	Hypotonia	134353	LSM11	ORPHA:51
HP:0001252	Hypotonia	160418	TMTC3	OMIM:617255
HP:0001252	Hypotonia	2495	FTH1	OMIM:620669
HP:0001252	Hypotonia	1317	SLC31A1	OMIM:620306
HP:0001252	Hypotonia	85476	GFM1	OMIM:609060
HP:0001252	Hypotonia	83548	COG3	OMIM:620546
HP:0001252	Hypotonia	55187	VPS13D	OMIM:607317
HP:0001252	Hypotonia	23102	TBC1D2B	OMIM:619323
HP:0001252	Hypotonia	64801	ARV1	OMIM:617020
HP:0001252	Hypotonia	6647	SOD1	OMIM:618598
HP:0001252	Hypotonia	5010	CLDN11	OMIM:619328
HP:0001252	Hypotonia	387119	CEP85L	ORPHA:572013
HP:0001252	Hypotonia	55250	ELP2	OMIM:617270
HP:0001252	Hypotonia	10352	WARS2	OMIM:617710
HP:0001252	Hypotonia	2664	GDI1	OMIM:300849
HP:0001252	Hypotonia	51079	NDUFA13	OMIM:618249
HP:0001252	Hypotonia	400569	MED11	OMIM:620327
HP:0001252	Hypotonia	2917	GRM7	OMIM:618922
HP:0001252	Hypotonia	819	CAMLG	OMIM:620201
HP:0001252	Hypotonia	1000	CDH2	OMIM:618929
HP:0001252	Hypotonia	23258	DENND5A	OMIM:617281
HP:0001252	Hypotonia	1641	DCX	OMIM:300067
HP:0001252	Hypotonia	4761	NEUROD2	OMIM:618374
HP:0001252	Hypotonia	84668	HYCC1	OMIM:610532
HP:0001252	Hypotonia	6697	SPR	OMIM:612716
HP:0001252	Hypotonia	6697	SPR	ORPHA:70594
HP:0001252	Hypotonia	79736	TEFM	OMIM:620451
HP:0001252	Hypotonia	7074	TIAM1	OMIM:619908
HP:0001252	Hypotonia	57498	KIDINS220	OMIM:617296
HP:0001252	Hypotonia	51501	HIKESHI	OMIM:616881
HP:0001252	Hypotonia	3643	INSR	ORPHA:508
HP:0001252	Hypotonia	2571	GAD1	OMIM:619124
HP:0001252	Hypotonia	374354	NHLRC2	OMIM:618278
HP:0001252	Hypotonia	6182	MRPL12	OMIM:618951
HP:0001252	Hypotonia	4976	OPA1	OMIM:616896
HP:0001252	Hypotonia	4190	MDH1	OMIM:618959
HP:0001252	Hypotonia	93587	TRMT10A	ORPHA:391408
HP:0001252	Hypotonia	84919	PPP1R15B	ORPHA:391408
HP:0001252	Hypotonia	5296	PIK3R2	OMIM:603387
HP:0001252	Hypotonia	777	CACNA1E	OMIM:618285
HP:0001252	Hypotonia	203190	LGI3	OMIM:620007
HP:0001252	Hypotonia	51294	PCDH12	OMIM:251280
HP:0001252	Hypotonia	9439	MED23	OMIM:614249
HP:0001252	Hypotonia	84081	NSRP1	OMIM:620001
HP:0001252	Hypotonia	55331	ACER3	OMIM:617762
HP:0001252	Hypotonia	22978	NT5C2	OMIM:613162
HP:0001252	Hypotonia	221927	BRAT1	OMIM:618056
HP:0001252	Hypotonia	221927	BRAT1	OMIM:614498
HP:0001252	Hypotonia	10844	TUBGCP2	OMIM:618737
HP:0001252	Hypotonia	267	AMFR	OMIM:620379
HP:0001252	Hypotonia	6477	SIAH1	OMIM:619314
HP:0001252	Hypotonia	4538	MT-ND4	ORPHA:255210
HP:0001252	Hypotonia	4578	MT-TW	ORPHA:255210
HP:0001252	Hypotonia	4577	MT-TV	ORPHA:255210
HP:0001252	Hypotonia	4540	MT-ND5	ORPHA:255210
HP:0001252	Hypotonia	4541	MT-ND6	ORPHA:255210
HP:0001252	Hypotonia	4566	MT-TK	ORPHA:255210
HP:0001252	Hypotonia	283120	H19	ORPHA:231144
HP:0001252	Hypotonia	1363	CPE	OMIM:619326
HP:0001252	Hypotonia	55780	ERMARD	ORPHA:75857
HP:0001252	Hypotonia	427	ASAH1	ORPHA:333
HP:0001252	Hypotonia	56992	KIF15	ORPHA:261323
HP:0001252	Hypotonia	284098	PIGW	ORPHA:247262
HP:0001252	Hypotonia	1757	SARDH	ORPHA:3129
HP:0001252	Hypotonia	6605	SMARCE1	ORPHA:1465
HP:0001252	Hypotonia	54658	UGT1A1	ORPHA:79234
HP:0001252	Hypotonia	9091	PIGQ	OMIM:618548
HP:0001252	Hypotonia	9091	PIGQ	ORPHA:1934
HP:0001252	Hypotonia	9289	ADGRG1	ORPHA:98889
HP:0001252	Hypotonia	5297	PI4KA	ORPHA:98889
HP:0001252	Hypotonia	27286	SRPX2	ORPHA:98889
HP:0001252	Hypotonia	2554	GABRA1	ORPHA:33069
HP:0001252	Hypotonia	57526	PCDH19	ORPHA:33069
HP:0001252	Hypotonia	7343	UBTF	ORPHA:500180
HP:0001252	Hypotonia	4094	MAF	ORPHA:1272
HP:0001252	Hypotonia	84628	NTNG2	OMIM:618718
HP:0001252	Hypotonia	23636	NUP62	ORPHA:225154
HP:0001252	Hypotonia	8218	CLTCL1	ORPHA:453510
HP:0001252	Hypotonia	162417	NAGS	ORPHA:927
HP:0001252	Hypotonia	4750	NEK1	ORPHA:2751
HP:0001252	Hypotonia	57194	ATP10A	ORPHA:411515
HP:0001252	Hypotonia	3736	KCNA1	ORPHA:1934
HP:0001252	Hypotonia	150094	SIK1	ORPHA:1934
HP:0001252	Hypotonia	84340	GFM2	ORPHA:565624
HP:0001252	Hypotonia	25914	RTTN	ORPHA:468631
HP:0001252	Hypotonia	29968	PSAT1	ORPHA:284417
HP:0001252	Hypotonia	283989	TSEN54	ORPHA:2524
HP:0001252	Hypotonia	79042	TSEN34	ORPHA:2524
HP:0001252	Hypotonia	51091	SEPSECS	ORPHA:2524
HP:0001252	Hypotonia	96459	FNIP1	OMIM:619705
HP:0001252	Hypotonia	1497	CTNS	OMIM:219800
HP:0001254	Lethargy	1374	CPT1A	ORPHA:156
HP:0001254	Lethargy	1374	CPT1A	OMIM:255120
HP:0001254	Lethargy	4594	MMUT	ORPHA:289916
HP:0001254	Lethargy	4594	MMUT	ORPHA:79312
HP:0001254	Lethargy	4594	MMUT	OMIM:251000
HP:0001254	Lethargy	4524	MTHFR	ORPHA:395
HP:0001254	Lethargy	54539	NDUFB11	ORPHA:2609
HP:0001254	Lethargy	25915	NDUFAF3	ORPHA:2609
HP:0001254	Lethargy	51103	NDUFAF1	ORPHA:2609
HP:0001254	Lethargy	91942	NDUFAF2	ORPHA:2609
HP:0001254	Lethargy	51300	TIMMDC1	ORPHA:2609
HP:0001254	Lethargy	4716	NDUFB10	ORPHA:2609
HP:0001254	Lethargy	4723	NDUFV1	ORPHA:2609
HP:0001254	Lethargy	4723	NDUFV1	OMIM:618225
HP:0001254	Lethargy	55572	FOXRED1	ORPHA:2609
HP:0001254	Lethargy	284184	NDUFAF8	ORPHA:2609
HP:0001254	Lethargy	55863	TMEM126B	ORPHA:2609
HP:0001254	Lethargy	4535	MT-ND1	ORPHA:2609
HP:0001254	Lethargy	4537	MT-ND3	ORPHA:2609
HP:0001254	Lethargy	4729	NDUFV2	ORPHA:2609
HP:0001254	Lethargy	4694	NDUFA1	ORPHA:2609
HP:0001254	Lethargy	4720	NDUFS2	ORPHA:2609
HP:0001254	Lethargy	4720	NDUFS2	OMIM:618228
HP:0001254	Lethargy	4724	NDUFS4	ORPHA:2609
HP:0001254	Lethargy	4724	NDUFS4	OMIM:252010
HP:0001254	Lethargy	4726	NDUFS6	ORPHA:2609
HP:0001254	Lethargy	4726	NDUFS6	OMIM:618232
HP:0001254	Lethargy	4728	NDUFS8	ORPHA:2609
HP:0001254	Lethargy	4722	NDUFS3	ORPHA:2609
HP:0001254	Lethargy	79133	NDUFAF5	ORPHA:2609
HP:0001254	Lethargy	126328	NDUFA11	ORPHA:2609
HP:0001254	Lethargy	4709	NDUFB3	ORPHA:2609
HP:0001254	Lethargy	80224	NUBPL	ORPHA:2609
HP:0001254	Lethargy	29078	NDUFAF4	ORPHA:2609
HP:0001254	Lethargy	374291	NDUFS7	ORPHA:2609
HP:0001254	Lethargy	374291	NDUFS7	OMIM:618224
HP:0001254	Lethargy	4700	NDUFA6	ORPHA:2609
HP:0001254	Lethargy	4536	MT-ND2	ORPHA:2609
HP:0001254	Lethargy	4719	NDUFS1	ORPHA:2609
HP:0001254	Lethargy	4719	NDUFS1	OMIM:618226
HP:0001254	Lethargy	4715	NDUFB9	ORPHA:2609
HP:0001254	Lethargy	229	ALDOB	OMIM:229600
HP:0001254	Lethargy	229	ALDOB	ORPHA:469
HP:0001254	Lethargy	5009	OTC	OMIM:311250
HP:0001254	Lethargy	5009	OTC	ORPHA:664
HP:0001254	Lethargy	54820	NDE1	ORPHA:2177
HP:0001254	Lethargy	148738	HJV	OMIM:602390
HP:0001254	Lethargy	148738	HJV	ORPHA:79230
HP:0001254	Lethargy	2731	GLDC	OMIM:605899
HP:0001254	Lethargy	79783	SUGCT	ORPHA:35706
HP:0001254	Lethargy	4552	MTRR	OMIM:236270
HP:0001254	Lethargy	4552	MTRR	ORPHA:2169
HP:0001254	Lethargy	7849	PAX8	OMIM:218700
HP:0001254	Lethargy	7849	PAX8	ORPHA:95713
HP:0001254	Lethargy	1376	CPT2	OMIM:600649
HP:0001254	Lethargy	1376	CPT2	OMIM:608836
HP:0001254	Lethargy	55788	LMBRD1	OMIM:277380
HP:0001254	Lethargy	55788	LMBRD1	ORPHA:79284
HP:0001254	Lethargy	3141	HLCS	OMIM:253270
HP:0001254	Lethargy	3141	HLCS	ORPHA:79242
HP:0001254	Lethargy	7253	TSHR	ORPHA:90673
HP:0001254	Lethargy	7253	TSHR	ORPHA:95713
HP:0001254	Lethargy	7252	TSHB	ORPHA:90674
HP:0001254	Lethargy	1738	DLD	ORPHA:2394
HP:0001254	Lethargy	1738	DLD	OMIM:246900
HP:0001254	Lethargy	4509	MT-ATP8	ORPHA:254913
HP:0001254	Lethargy	514	ATP5F1E	ORPHA:254913
HP:0001254	Lethargy	513	ATP5F1D	ORPHA:254913
HP:0001254	Lethargy	513	ATP5F1D	OMIM:618120
HP:0001254	Lethargy	498	ATP5F1A	ORPHA:254913
HP:0001254	Lethargy	4508	MT-ATP6	ORPHA:254913
HP:0001254	Lethargy	84833	ATP5MK	ORPHA:254913
HP:0001254	Lethargy	84833	ATP5MK	OMIM:618683
HP:0001254	Lethargy	91647	ATPAF2	ORPHA:254913
HP:0001254	Lethargy	686	BTD	OMIM:253260
HP:0001254	Lethargy	686	BTD	ORPHA:79241
HP:0001254	Lethargy	36	ACADSB	OMIM:610006
HP:0001254	Lethargy	64087	MCCC2	OMIM:210210
HP:0001254	Lethargy	79087	ALG12	OMIM:607143
HP:0001254	Lethargy	5095	PCCA	OMIM:606054
HP:0001254	Lethargy	5096	PCCB	OMIM:606054
HP:0001254	Lethargy	9377	COX5A	OMIM:619064
HP:0001254	Lethargy	23400	ATP13A2	ORPHA:306674
HP:0001254	Lethargy	388962	BOLA3	OMIM:614299
HP:0001254	Lethargy	55065	SLC52A1	OMIM:615026
HP:0001254	Lethargy	1591	CYP24A1	OMIM:143880
HP:0001254	Lethargy	28514	DLL1	ORPHA:93926
HP:0001254	Lethargy	28514	DLL1	ORPHA:93924
HP:0001254	Lethargy	28514	DLL1	ORPHA:93925
HP:0001254	Lethargy	28514	DLL1	ORPHA:220386
HP:0001254	Lethargy	2253	FGF8	ORPHA:93926
HP:0001254	Lethargy	2253	FGF8	ORPHA:93924
HP:0001254	Lethargy	2253	FGF8	ORPHA:93925
HP:0001254	Lethargy	2253	FGF8	ORPHA:220386
HP:0001254	Lethargy	6496	SIX3	ORPHA:93926
HP:0001254	Lethargy	6496	SIX3	ORPHA:93924
HP:0001254	Lethargy	6496	SIX3	ORPHA:93925
HP:0001254	Lethargy	6496	SIX3	ORPHA:220386
HP:0001254	Lethargy	7050	TGIF1	ORPHA:93926
HP:0001254	Lethargy	7050	TGIF1	ORPHA:93924
HP:0001254	Lethargy	7050	TGIF1	ORPHA:93925
HP:0001254	Lethargy	7050	TGIF1	ORPHA:220386
HP:0001254	Lethargy	4838	NODAL	ORPHA:93926
HP:0001254	Lethargy	4838	NODAL	ORPHA:93924
HP:0001254	Lethargy	4838	NODAL	ORPHA:93925
HP:0001254	Lethargy	4838	NODAL	ORPHA:220386
HP:0001254	Lethargy	6469	SHH	ORPHA:93926
HP:0001254	Lethargy	6469	SHH	ORPHA:93924
HP:0001254	Lethargy	6469	SHH	ORPHA:93925
HP:0001254	Lethargy	6469	SHH	ORPHA:220386
HP:0001254	Lethargy	7546	ZIC2	ORPHA:93926
HP:0001254	Lethargy	7546	ZIC2	ORPHA:93924
HP:0001254	Lethargy	7546	ZIC2	ORPHA:93925
HP:0001254	Lethargy	7546	ZIC2	ORPHA:220386
HP:0001254	Lethargy	6491	STIL	ORPHA:93926
HP:0001254	Lethargy	6491	STIL	ORPHA:93924
HP:0001254	Lethargy	6491	STIL	ORPHA:93925
HP:0001254	Lethargy	6491	STIL	ORPHA:220386
HP:0001254	Lethargy	2619	GAS1	ORPHA:93926
HP:0001254	Lethargy	2619	GAS1	ORPHA:93924
HP:0001254	Lethargy	2619	GAS1	ORPHA:93925
HP:0001254	Lethargy	2619	GAS1	ORPHA:220386
HP:0001254	Lethargy	84976	DISP1	ORPHA:93926
HP:0001254	Lethargy	84976	DISP1	ORPHA:93924
HP:0001254	Lethargy	84976	DISP1	ORPHA:93925
HP:0001254	Lethargy	84976	DISP1	ORPHA:220386
HP:0001254	Lethargy	2736	GLI2	ORPHA:93926
HP:0001254	Lethargy	2736	GLI2	ORPHA:93924
HP:0001254	Lethargy	2736	GLI2	ORPHA:93925
HP:0001254	Lethargy	2736	GLI2	ORPHA:220386
HP:0001254	Lethargy	8928	FOXH1	ORPHA:93926
HP:0001254	Lethargy	8928	FOXH1	ORPHA:93924
HP:0001254	Lethargy	8928	FOXH1	ORPHA:93925
HP:0001254	Lethargy	8928	FOXH1	ORPHA:220386
HP:0001254	Lethargy	6997	CRIPTO	ORPHA:93926
HP:0001254	Lethargy	6997	CRIPTO	ORPHA:93924
HP:0001254	Lethargy	6997	CRIPTO	ORPHA:93925
HP:0001254	Lethargy	6997	CRIPTO	ORPHA:220386
HP:0001254	Lethargy	5727	PTCH1	ORPHA:93926
HP:0001254	Lethargy	5727	PTCH1	ORPHA:93924
HP:0001254	Lethargy	5727	PTCH1	ORPHA:93925
HP:0001254	Lethargy	5727	PTCH1	ORPHA:220386
HP:0001254	Lethargy	50937	CDON	ORPHA:93926
HP:0001254	Lethargy	50937	CDON	ORPHA:93924
HP:0001254	Lethargy	50937	CDON	ORPHA:93925
HP:0001254	Lethargy	50937	CDON	ORPHA:220386
HP:0001254	Lethargy	51021	MRPS16	OMIM:610498
HP:0001254	Lethargy	56922	MCCC1	OMIM:210200
HP:0001254	Lethargy	2260	FGFR1	ORPHA:93924
HP:0001254	Lethargy	2260	FGFR1	ORPHA:220386
HP:0001254	Lethargy	23007	PLCH1	ORPHA:93925
HP:0001254	Lethargy	10735	STAG2	ORPHA:93925
HP:0001254	Lethargy	10735	STAG2	ORPHA:220386
HP:0001254	Lethargy	5826	ABCD4	OMIM:614857
HP:0001254	Lethargy	788	SLC25A20	ORPHA:159
HP:0001254	Lethargy	788	SLC25A20	OMIM:212138
HP:0001254	Lethargy	9056	SLC7A7	ORPHA:470
HP:0001254	Lethargy	51594	NBAS	OMIM:616483
HP:0001254	Lethargy	6521	SLC4A1	OMIM:611590
HP:0001254	Lethargy	593	BCKDHA	OMIM:248600
HP:0001254	Lethargy	5626	PROP1	ORPHA:226307
HP:0001254	Lethargy	89884	LHX4	ORPHA:226307
HP:0001254	Lethargy	8022	LHX3	ORPHA:226307
HP:0001254	Lethargy	5449	POU1F1	ORPHA:226307
HP:0001254	Lethargy	8820	HESX1	ORPHA:226307
HP:0001254	Lethargy	4519	MT-CYB	ORPHA:137675
HP:0001254	Lethargy	5828	PEX2	OMIM:614866
HP:0001254	Lethargy	2643	GCH1	OMIM:233910
HP:0001254	Lethargy	90624	LYRM7	OMIM:615838
HP:0001254	Lethargy	80704	SLC19A3	OMIM:607483
HP:0001254	Lethargy	166785	MMAA	OMIM:251100
HP:0001254	Lethargy	50506	DUOX2	ORPHA:226316
HP:0001254	Lethargy	50506	DUOX2	ORPHA:95716
HP:0001254	Lethargy	6506	SLC1A2	OMIM:617105
HP:0001254	Lethargy	29110	TBK1	OMIM:617900
HP:0001254	Lethargy	34	ACADM	ORPHA:42
HP:0001254	Lethargy	34	ACADM	OMIM:201450
HP:0001254	Lethargy	55739	NAXD	OMIM:618321
HP:0001254	Lethargy	162417	NAGS	ORPHA:927
HP:0001254	Lethargy	162417	NAGS	OMIM:237310
HP:0001254	Lethargy	654	BMP6	ORPHA:465508
HP:0001254	Lethargy	3077	HFE	ORPHA:465508
HP:0001254	Lethargy	10165	SLC25A13	ORPHA:247585
HP:0001254	Lethargy	6261	RYR1	ORPHA:324581
HP:0001254	Lethargy	6261	RYR1	ORPHA:466650
HP:0001254	Lethargy	445	ASS1	OMIM:215700
HP:0001254	Lethargy	7201	TRHR	ORPHA:99832
HP:0001254	Lethargy	7201	TRHR	OMIM:618573
HP:0001254	Lethargy	6528	SLC5A5	OMIM:274400
HP:0001254	Lethargy	6528	SLC5A5	ORPHA:95716
HP:0001254	Lethargy	1967	EIF2B1	OMIM:603896
HP:0001254	Lethargy	6138	RPL15	ORPHA:124
HP:0001254	Lethargy	6224	RPS20	ORPHA:124
HP:0001254	Lethargy	6165	RPL35A	ORPHA:124
HP:0001254	Lethargy	6132	RPL8	ORPHA:124
HP:0001254	Lethargy	6223	RPS19	ORPHA:124
HP:0001254	Lethargy	6232	RPS27	ORPHA:124
HP:0001254	Lethargy	55027	HEATR3	ORPHA:124
HP:0001254	Lethargy	6160	RPL31	ORPHA:124
HP:0001254	Lethargy	6201	RPS7	ORPHA:124
HP:0001254	Lethargy	6155	RPL27	ORPHA:124
HP:0001254	Lethargy	6234	RPS28	ORPHA:124
HP:0001254	Lethargy	6135	RPL11	ORPHA:124
HP:0001254	Lethargy	6229	RPS24	ORPHA:124
HP:0001254	Lethargy	6125	RPL5	ORPHA:124
HP:0001254	Lethargy	6204	RPS10	ORPHA:124
HP:0001254	Lethargy	2623	GATA1	ORPHA:124
HP:0001254	Lethargy	6133	RPL9	ORPHA:124
HP:0001254	Lethargy	6231	RPS26	ORPHA:124
HP:0001254	Lethargy	11224	RPL35	ORPHA:124
HP:0001254	Lethargy	6218	RPS17	ORPHA:124
HP:0001254	Lethargy	6154	RPL26	ORPHA:124
HP:0001254	Lethargy	6210	RPS15A	ORPHA:124
HP:0001254	Lethargy	90121	TSR2	ORPHA:124
HP:0001254	Lethargy	6141	RPL18	ORPHA:124
HP:0001254	Lethargy	6235	RPS29	ORPHA:124
HP:0001254	Lethargy	51816	ADA2	ORPHA:124
HP:0001254	Lethargy	27247	NFU1	OMIM:605711
HP:0001254	Lethargy	6927	HNF1A	ORPHA:324575
HP:0001254	Lethargy	51067	YARS2	OMIM:613561
HP:0001254	Lethargy	7351	UCP2	ORPHA:276556
HP:0001254	Lethargy	8260	NAA10	ORPHA:276432
HP:0001254	Lethargy	6792	CDKL5	ORPHA:1934
HP:0001254	Lethargy	3736	KCNA1	ORPHA:1934
HP:0001254	Lethargy	9091	PIGQ	ORPHA:1934
HP:0001254	Lethargy	140679	SLC32A1	ORPHA:1934
HP:0001254	Lethargy	2775	GNAO1	ORPHA:1934
HP:0001254	Lethargy	81603	TRIM8	ORPHA:1934
HP:0001254	Lethargy	2902	GRIN1	ORPHA:1934
HP:0001254	Lethargy	79751	SLC25A22	ORPHA:1934
HP:0001254	Lethargy	150094	SIK1	ORPHA:1934
HP:0001254	Lethargy	8573	CASK	ORPHA:1934
HP:0001254	Lethargy	23312	DMXL2	ORPHA:1934
HP:0001254	Lethargy	2917	GRM7	ORPHA:1934
HP:0001254	Lethargy	170302	ARX	ORPHA:1934
HP:0001254	Lethargy	11284	PNKP	ORPHA:1934
HP:0001254	Lethargy	6326	SCN2A	ORPHA:1934
HP:0001254	Lethargy	51227	PIGP	ORPHA:1934
HP:0001254	Lethargy	6324	SCN1B	ORPHA:1934
HP:0001254	Lethargy	4761	NEUROD2	ORPHA:1934
HP:0001254	Lethargy	6513	SLC2A1	ORPHA:71277
HP:0001254	Lethargy	6513	SLC2A1	OMIM:606777
HP:0001254	Lethargy	435	ASL	ORPHA:23
HP:0001254	Lethargy	435	ASL	OMIM:207900
HP:0001254	Lethargy	291	SLC25A4	ORPHA:254892
HP:0001254	Lethargy	5428	POLG	ORPHA:254892
HP:0001254	Lethargy	56652	TWNK	ORPHA:254892
HP:0001254	Lethargy	11232	POLG2	ORPHA:254892
HP:0001254	Lethargy	50484	RRM2B	ORPHA:254892
HP:0001254	Lethargy	3155	HMGCL	ORPHA:20
HP:0001254	Lethargy	5076	PAX2	ORPHA:97362
HP:0001254	Lethargy	5087	PBX1	ORPHA:97362
HP:0001254	Lethargy	763	CA5A	OMIM:615751
HP:0001254	Lethargy	1317	SLC31A1	OMIM:620306
HP:0001254	Lethargy	6948	TCN2	OMIM:275350
HP:0001254	Lethargy	2653	GCSH	OMIM:620423
HP:0001254	Lethargy	3875	KRT18	OMIM:215600
HP:0001254	Lethargy	9256	TSPOAP1	ORPHA:101150
HP:0001254	Lethargy	7054	TH	ORPHA:101150
HP:0001254	Lethargy	27249	MMADHC	OMIM:277410
HP:0001254	Lethargy	27249	MMADHC	ORPHA:79283
HP:0001254	Lethargy	3712	IVD	ORPHA:33
HP:0001254	Lethargy	3712	IVD	OMIM:243500
HP:0001254	Lethargy	5160	PDHA1	OMIM:312170
HP:0001254	Lethargy	1806	DPYD	OMIM:274270
HP:0001254	Lethargy	6492	SIM1	ORPHA:398079
HP:0001254	Lethargy	10560	SLC19A2	ORPHA:49827
HP:0001254	Lethargy	1644	DDC	OMIM:608643
HP:0001254	Lethargy	2561	GABRB2	OMIM:617829
HP:0001254	Lethargy	443	ASPA	ORPHA:314911
HP:0001254	Lethargy	6833	ABCC8	ORPHA:276575
HP:0001254	Lethargy	2710	GK	OMIM:307030
HP:0001254	Lethargy	10166	SLC25A15	ORPHA:415
HP:0001254	Lethargy	10166	SLC25A15	OMIM:238970
HP:0001254	Lethargy	2592	GALT	ORPHA:79239
HP:0001254	Lethargy	3767	KCNJ11	ORPHA:276580
HP:0001254	Lethargy	7019	TFAM	OMIM:617156
HP:0001254	Lethargy	11274	USP18	OMIM:617397
HP:0001254	Lethargy	405753	DUOXA2	ORPHA:95716
HP:0001254	Lethargy	7038	TG	ORPHA:95716
HP:0001254	Lethargy	7173	TPO	ORPHA:95716
HP:0001254	Lethargy	389434	IYD	ORPHA:95716
HP:0001254	Lethargy	7080	NKX2-1	ORPHA:95713
HP:0001254	Lethargy	1482	NKX2-5	ORPHA:95713
HP:0001254	Lethargy	2304	FOXE1	ORPHA:95713
HP:0001254	Lethargy	5172	SLC26A4	ORPHA:95713
HP:0001254	Lethargy	54551	MAGEL2	ORPHA:398069
HP:0001254	Lethargy	5277	PIGA	ORPHA:447
HP:0001254	Lethargy	3172	HNF4A	ORPHA:263455
HP:0001254	Lethargy	55630	SLC39A4	OMIM:201100
HP:0001254	Lethargy	84342	COG8	OMIM:611182
HP:0001254	Lethargy	7098	TLR3	OMIM:613002
HP:0001254	Lethargy	594	BCKDHB	OMIM:620698
HP:0001254	Lethargy	1629	DBT	OMIM:620699
HP:0001254	Lethargy	57817	HAMP	ORPHA:79230
HP:0001254	Lethargy	4548	MTR	OMIM:250940
HP:0001254	Lethargy	326625	MMAB	OMIM:251110
HP:0001254	Lethargy	9997	SCO2	OMIM:604377
HP:0001254	Lethargy	37	ACADVL	OMIM:201475
HP:0001254	Lethargy	37	ACADVL	ORPHA:26793
HP:0001254	Lethargy	4576	MT-TT	ORPHA:254857
HP:0001254	Lethargy	35	ACADS	OMIM:201470
HP:0001254	Lethargy	35	ACADS	ORPHA:26792
HP:0001254	Lethargy	54796	BNC2	ORPHA:93110
HP:0001254	Lethargy	3032	HADHB	ORPHA:746
HP:0001254	Lethargy	3030	HADHA	ORPHA:746
HP:0001254	Lethargy	3030	HADHA	OMIM:609015
HP:0001254	Lethargy	4221	MEN1	ORPHA:97279
HP:0001254	Lethargy	4221	MEN1	ORPHA:652
HP:0001254	Lethargy	7528	YY1	ORPHA:97279
HP:0001254	Lethargy	60558	GUF1	OMIM:617065
HP:0001254	Lethargy	2998	GYS2	ORPHA:2089
HP:0001254	Lethargy	57038	RARS2	OMIM:611523
HP:0001254	Lethargy	3033	HADH	ORPHA:71212
HP:0001254	Lethargy	10551	AGR2	OMIM:620233
HP:0001254	Lethargy	1027	CDKN1B	ORPHA:652
HP:0001254	Lethargy	1026	CDKN1A	ORPHA:652
HP:0001254	Lethargy	1030	CDKN2B	ORPHA:652
HP:0001254	Lethargy	1031	CDKN2C	ORPHA:652
HP:0001254	Lethargy	2203	FBP1	OMIM:229700
HP:0001254	Lethargy	551	AVP	ORPHA:30925
HP:0001254	Lethargy	8243	SMC1A	ORPHA:220386
HP:0001254	Lethargy	60386	SLC25A19	OMIM:613710
HP:0001254	Lethargy	25974	MMACHC	ORPHA:79282
HP:0001254	Lethargy	25974	MMACHC	OMIM:277400
HP:0001254	Lethargy	55005	RMND1	OMIM:614922
HP:0001254	Lethargy	1807	DPYS	OMIM:222748
HP:0001254	Lethargy	18	ABAT	OMIM:613163
HP:0001254	Lethargy	9054	NFS1	OMIM:619386
HP:0001254	Lethargy	132001	TAMM41	OMIM:620139
HP:0001254	Lethargy	1373	CPS1	OMIM:237300
HP:0001254	Lethargy	26275	HIBCH	OMIM:250620
HP:0001254	Lethargy	5052	PRDX1	OMIM:277400
HP:0001254	Lethargy	6584	SLC22A5	OMIM:212140
HP:0001257	Spasticity	1718	DHCR24	OMIM:602398
HP:0001257	Spasticity	1718	DHCR24	ORPHA:35107
HP:0001257	Spasticity	10749	KIF1C	ORPHA:397946
HP:0001257	Spasticity	10749	KIF1C	OMIM:611302
HP:0001257	Spasticity	4287	ATXN3	OMIM:109150
HP:0001257	Spasticity	4287	ATXN3	ORPHA:276238
HP:0001257	Spasticity	4287	ATXN3	ORPHA:276244
HP:0001257	Spasticity	4287	ATXN3	ORPHA:276241
HP:0001257	Spasticity	55703	POLR3B	OMIM:614381
HP:0001257	Spasticity	55703	POLR3B	OMIM:619742
HP:0001257	Spasticity	55703	POLR3B	OMIM:607694
HP:0001257	Spasticity	23141	ANKLE2	OMIM:616681
HP:0001257	Spasticity	4099	MAG	OMIM:616680
HP:0001257	Spasticity	4099	MAG	ORPHA:459056
HP:0001257	Spasticity	10159	ATP6AP2	OMIM:300911
HP:0001257	Spasticity	10159	ATP6AP2	OMIM:300423
HP:0001257	Spasticity	10159	ATP6AP2	ORPHA:363654
HP:0001257	Spasticity	8367	H4C5	OMIM:619950
HP:0001257	Spasticity	104	ADARB1	OMIM:618862
HP:0001257	Spasticity	23019	CNOT1	OMIM:618500
HP:0001257	Spasticity	776	CACNA1D	OMIM:615474
HP:0001257	Spasticity	9853	RUSC2	OMIM:617773
HP:0001257	Spasticity	55823	VPS11	OMIM:616683
HP:0001257	Spasticity	55823	VPS11	ORPHA:466934
HP:0001257	Spasticity	4750	NEK1	OMIM:617892
HP:0001257	Spasticity	4750	NEK1	ORPHA:803
HP:0001257	Spasticity	51569	UFM1	OMIM:617899
HP:0001257	Spasticity	6873	TAF2	OMIM:615599
HP:0001257	Spasticity	6873	TAF2	ORPHA:397951
HP:0001257	Spasticity	7360	UGP2	OMIM:618744
HP:0001257	Spasticity	81857	MED25	OMIM:616449
HP:0001257	Spasticity	81857	MED25	ORPHA:464738
HP:0001257	Spasticity	1786	DNMT1	ORPHA:314404
HP:0001257	Spasticity	1786	DNMT1	OMIM:604121
HP:0001257	Spasticity	84942	WDR73	OMIM:251300
HP:0001257	Spasticity	84942	WDR73	ORPHA:83472
HP:0001257	Spasticity	57679	ALS2	ORPHA:247604
HP:0001257	Spasticity	57679	ALS2	OMIM:205100
HP:0001257	Spasticity	57679	ALS2	ORPHA:293168
HP:0001257	Spasticity	11160	ERLIN2	ORPHA:247604
HP:0001257	Spasticity	11160	ERLIN2	ORPHA:209951
HP:0001257	Spasticity	10084	PQBP1	ORPHA:93950
HP:0001257	Spasticity	10084	PQBP1	ORPHA:93947
HP:0001257	Spasticity	10084	PQBP1	OMIM:309500
HP:0001257	Spasticity	5354	PLP1	ORPHA:99015
HP:0001257	Spasticity	5354	PLP1	ORPHA:280219
HP:0001257	Spasticity	4535	MT-ND1	ORPHA:255210
HP:0001257	Spasticity	4536	MT-ND2	ORPHA:255210
HP:0001257	Spasticity	4537	MT-ND3	ORPHA:255210
HP:0001257	Spasticity	4538	MT-ND4	ORPHA:255210
HP:0001257	Spasticity	4567	MT-TL1	ORPHA:255210
HP:0001257	Spasticity	4567	MT-TL1	OMIM:545000
HP:0001257	Spasticity	4578	MT-TW	ORPHA:255210
HP:0001257	Spasticity	4577	MT-TV	ORPHA:255210
HP:0001257	Spasticity	4508	MT-ATP6	ORPHA:255210
HP:0001257	Spasticity	4508	MT-ATP6	ORPHA:225154
HP:0001257	Spasticity	4540	MT-ND5	ORPHA:255210
HP:0001257	Spasticity	4541	MT-ND6	ORPHA:255210
HP:0001257	Spasticity	4566	MT-TK	ORPHA:255210
HP:0001257	Spasticity	4566	MT-TK	OMIM:545000
HP:0001257	Spasticity	3074	HEXB	ORPHA:309169
HP:0001257	Spasticity	3074	HEXB	ORPHA:309155
HP:0001257	Spasticity	3074	HEXB	OMIM:268800
HP:0001257	Spasticity	3020	H3-3A	OMIM:619720
HP:0001257	Spasticity	65993	MRPS34	OMIM:617664
HP:0001257	Spasticity	10300	KATNB1	OMIM:616212
HP:0001257	Spasticity	51741	WWOX	OMIM:616211
HP:0001257	Spasticity	51741	WWOX	ORPHA:442835
HP:0001257	Spasticity	51741	WWOX	OMIM:614322
HP:0001257	Spasticity	1841	DTYMK	OMIM:619847
HP:0001257	Spasticity	2670	GFAP	OMIM:203450
HP:0001257	Spasticity	2670	GFAP	ORPHA:363722
HP:0001257	Spasticity	2670	GFAP	ORPHA:363717
HP:0001257	Spasticity	166378	AFG2A	OMIM:616577
HP:0001257	Spasticity	166378	AFG2A	ORPHA:457351
HP:0001257	Spasticity	16	AARS1	OMIM:616339
HP:0001257	Spasticity	16	AARS1	ORPHA:442835
HP:0001257	Spasticity	16	AARS1	ORPHA:33364
HP:0001257	Spasticity	16	AARS1	OMIM:619691
HP:0001257	Spasticity	5610	EIF2AK2	OMIM:618877
HP:0001257	Spasticity	5610	EIF2AK2	OMIM:619687
HP:0001257	Spasticity	10381	TUBB3	OMIM:614039
HP:0001257	Spasticity	10381	TUBB3	ORPHA:300570
HP:0001257	Spasticity	57231	SNX14	ORPHA:397709
HP:0001257	Spasticity	57231	SNX14	OMIM:616354
HP:0001257	Spasticity	410	ARSA	ORPHA:309271
HP:0001257	Spasticity	410	ARSA	ORPHA:309263
HP:0001257	Spasticity	410	ARSA	ORPHA:309256
HP:0001257	Spasticity	5660	PSAP	ORPHA:309271
HP:0001257	Spasticity	5660	PSAP	ORPHA:309263
HP:0001257	Spasticity	5660	PSAP	ORPHA:309256
HP:0001257	Spasticity	5660	PSAP	ORPHA:206436
HP:0001257	Spasticity	54	ACP5	OMIM:607944
HP:0001257	Spasticity	54	ACP5	ORPHA:1855
HP:0001257	Spasticity	288	ANK3	OMIM:615493
HP:0001257	Spasticity	288	ANK3	ORPHA:356996
HP:0001257	Spasticity	5832	ALDH18A1	OMIM:616586
HP:0001257	Spasticity	5832	ALDH18A1	ORPHA:447760
HP:0001257	Spasticity	215	ABCD1	ORPHA:139399
HP:0001257	Spasticity	7343	UBTF	OMIM:617672
HP:0001257	Spasticity	7343	UBTF	ORPHA:500180
HP:0001257	Spasticity	79029	AFG2B	OMIM:619616
HP:0001257	Spasticity	64834	ELOVL1	OMIM:618527
HP:0001257	Spasticity	10111	RAD50	OMIM:613078
HP:0001257	Spasticity	51308	REEP2	OMIM:620606
HP:0001257	Spasticity	51308	REEP2	OMIM:615625
HP:0001257	Spasticity	3064	HTT	OMIM:617435
HP:0001257	Spasticity	55681	SCYL2	OMIM:618766
HP:0001257	Spasticity	8560	DEGS1	OMIM:618404
HP:0001257	Spasticity	2074	ERCC6	OMIM:278800
HP:0001257	Spasticity	10939	AFG3L2	ORPHA:313772
HP:0001257	Spasticity	10939	AFG3L2	ORPHA:101109
HP:0001257	Spasticity	10939	AFG3L2	OMIM:610246
HP:0001257	Spasticity	10939	AFG3L2	OMIM:614487
HP:0001257	Spasticity	5191	PEX7	OMIM:215100
HP:0001257	Spasticity	2697	GJA1	ORPHA:2710
HP:0001257	Spasticity	2697	GJA1	OMIM:164200
HP:0001257	Spasticity	84504	NKX6-2	OMIM:617560
HP:0001257	Spasticity	283987	HID1	OMIM:619983
HP:0001257	Spasticity	4565	MT-TI	OMIM:545000
HP:0001257	Spasticity	4571	MT-TP	OMIM:545000
HP:0001257	Spasticity	4558	MT-TF	OMIM:545000
HP:0001257	Spasticity	6712	SPTBN2	OMIM:615386
HP:0001257	Spasticity	6712	SPTBN2	ORPHA:352403
HP:0001257	Spasticity	25930	PTPN23	OMIM:618890
HP:0001257	Spasticity	83636	C19orf12	OMIM:614298
HP:0001257	Spasticity	83636	C19orf12	OMIM:615043
HP:0001257	Spasticity	5833	PCYT2	OMIM:618770
HP:0001257	Spasticity	388962	BOLA3	OMIM:614299
HP:0001257	Spasticity	28514	DLL1	ORPHA:93926
HP:0001257	Spasticity	28514	DLL1	ORPHA:93924
HP:0001257	Spasticity	28514	DLL1	ORPHA:93925
HP:0001257	Spasticity	28514	DLL1	ORPHA:220386
HP:0001257	Spasticity	2253	FGF8	ORPHA:93926
HP:0001257	Spasticity	2253	FGF8	ORPHA:93924
HP:0001257	Spasticity	2253	FGF8	ORPHA:93925
HP:0001257	Spasticity	2253	FGF8	ORPHA:220386
HP:0001257	Spasticity	6496	SIX3	ORPHA:93926
HP:0001257	Spasticity	6496	SIX3	ORPHA:93924
HP:0001257	Spasticity	6496	SIX3	ORPHA:93925
HP:0001257	Spasticity	6496	SIX3	ORPHA:220386
HP:0001257	Spasticity	7050	TGIF1	ORPHA:93926
HP:0001257	Spasticity	7050	TGIF1	ORPHA:93924
HP:0001257	Spasticity	7050	TGIF1	ORPHA:93925
HP:0001257	Spasticity	7050	TGIF1	ORPHA:220386
HP:0001257	Spasticity	4838	NODAL	ORPHA:93926
HP:0001257	Spasticity	4838	NODAL	ORPHA:93924
HP:0001257	Spasticity	4838	NODAL	ORPHA:93925
HP:0001257	Spasticity	4838	NODAL	ORPHA:220386
HP:0001257	Spasticity	6469	SHH	ORPHA:93926
HP:0001257	Spasticity	6469	SHH	ORPHA:93924
HP:0001257	Spasticity	6469	SHH	ORPHA:93925
HP:0001257	Spasticity	6469	SHH	ORPHA:220386
HP:0001257	Spasticity	7546	ZIC2	ORPHA:93926
HP:0001257	Spasticity	7546	ZIC2	ORPHA:93924
HP:0001257	Spasticity	7546	ZIC2	ORPHA:93925
HP:0001257	Spasticity	7546	ZIC2	ORPHA:220386
HP:0001257	Spasticity	6491	STIL	ORPHA:93926
HP:0001257	Spasticity	6491	STIL	ORPHA:93924
HP:0001257	Spasticity	6491	STIL	ORPHA:93925
HP:0001257	Spasticity	6491	STIL	ORPHA:220386
HP:0001257	Spasticity	2619	GAS1	ORPHA:93926
HP:0001257	Spasticity	2619	GAS1	ORPHA:93924
HP:0001257	Spasticity	2619	GAS1	ORPHA:93925
HP:0001257	Spasticity	2619	GAS1	ORPHA:220386
HP:0001257	Spasticity	84976	DISP1	ORPHA:93926
HP:0001257	Spasticity	84976	DISP1	ORPHA:93924
HP:0001257	Spasticity	84976	DISP1	ORPHA:93925
HP:0001257	Spasticity	84976	DISP1	ORPHA:220386
HP:0001257	Spasticity	2736	GLI2	ORPHA:93926
HP:0001257	Spasticity	2736	GLI2	ORPHA:93924
HP:0001257	Spasticity	2736	GLI2	ORPHA:93925
HP:0001257	Spasticity	2736	GLI2	ORPHA:220386
HP:0001257	Spasticity	8928	FOXH1	ORPHA:93926
HP:0001257	Spasticity	8928	FOXH1	ORPHA:93924
HP:0001257	Spasticity	8928	FOXH1	ORPHA:93925
HP:0001257	Spasticity	8928	FOXH1	ORPHA:220386
HP:0001257	Spasticity	6997	CRIPTO	ORPHA:93926
HP:0001257	Spasticity	6997	CRIPTO	ORPHA:93924
HP:0001257	Spasticity	6997	CRIPTO	ORPHA:93925
HP:0001257	Spasticity	6997	CRIPTO	ORPHA:220386
HP:0001257	Spasticity	5727	PTCH1	ORPHA:93926
HP:0001257	Spasticity	5727	PTCH1	ORPHA:93924
HP:0001257	Spasticity	5727	PTCH1	ORPHA:93925
HP:0001257	Spasticity	5727	PTCH1	ORPHA:220386
HP:0001257	Spasticity	50937	CDON	ORPHA:93926
HP:0001257	Spasticity	50937	CDON	ORPHA:93924
HP:0001257	Spasticity	50937	CDON	ORPHA:93925
HP:0001257	Spasticity	50937	CDON	ORPHA:220386
HP:0001257	Spasticity	2260	FGFR1	ORPHA:93924
HP:0001257	Spasticity	2260	FGFR1	ORPHA:2396
HP:0001257	Spasticity	2260	FGFR1	ORPHA:220386
HP:0001257	Spasticity	23007	PLCH1	ORPHA:93925
HP:0001257	Spasticity	10735	STAG2	ORPHA:93925
HP:0001257	Spasticity	10735	STAG2	ORPHA:220386
HP:0001257	Spasticity	79731	NARS2	OMIM:616239
HP:0001257	Spasticity	54832	VPS13C	ORPHA:2828
HP:0001257	Spasticity	54832	VPS13C	OMIM:616840
HP:0001257	Spasticity	11315	PARK7	ORPHA:2828
HP:0001257	Spasticity	7345	UCHL1	ORPHA:2828
HP:0001257	Spasticity	27429	HTRA2	ORPHA:2828
HP:0001257	Spasticity	120892	LRRK2	ORPHA:2828
HP:0001257	Spasticity	9829	DNAJC6	ORPHA:2828
HP:0001257	Spasticity	9829	DNAJC6	OMIM:615528
HP:0001257	Spasticity	6622	SNCA	ORPHA:2828
HP:0001257	Spasticity	6622	SNCA	ORPHA:171695
HP:0001257	Spasticity	5420	PODXL	ORPHA:2828
HP:0001257	Spasticity	65018	PINK1	ORPHA:2828
HP:0001257	Spasticity	8867	SYNJ1	ORPHA:2828
HP:0001257	Spasticity	8867	SYNJ1	ORPHA:442835
HP:0001257	Spasticity	5071	PRKN	ORPHA:2828
HP:0001257	Spasticity	3737	KCNA2	ORPHA:442835
HP:0001257	Spasticity	1759	DNM1	ORPHA:442835
HP:0001257	Spasticity	8120	AP3B2	ORPHA:442835
HP:0001257	Spasticity	523	ATP6V1A	ORPHA:442835
HP:0001257	Spasticity	523	ATP6V1A	ORPHA:357074
HP:0001257	Spasticity	10991	SLC38A3	ORPHA:442835
HP:0001257	Spasticity	51343	FZR1	ORPHA:442835
HP:0001257	Spasticity	51343	FZR1	OMIM:620145
HP:0001257	Spasticity	3747	KCNC2	ORPHA:442835
HP:0001257	Spasticity	1917	EEF1A2	ORPHA:442835
HP:0001257	Spasticity	23219	FBXO28	ORPHA:442835
HP:0001257	Spasticity	2561	GABRB2	ORPHA:442835
HP:0001257	Spasticity	2561	GABRB2	OMIM:617829
HP:0001257	Spasticity	8831	SYNGAP1	ORPHA:442835
HP:0001257	Spasticity	2558	GABRA5	ORPHA:442835
HP:0001257	Spasticity	2558	GABRA5	OMIM:618559
HP:0001257	Spasticity	2906	GRIN2D	ORPHA:442835
HP:0001257	Spasticity	116150	NUS1	ORPHA:442835
HP:0001257	Spasticity	1213	CLTC	ORPHA:442835
HP:0001257	Spasticity	1213	CLTC	OMIM:617854
HP:0001257	Spasticity	23334	SZT2	ORPHA:442835
HP:0001257	Spasticity	348980	HCN1	ORPHA:442835
HP:0001257	Spasticity	25977	NECAP1	ORPHA:442835
HP:0001257	Spasticity	23241	PACS2	ORPHA:442835
HP:0001257	Spasticity	6334	SCN8A	ORPHA:442835
HP:0001257	Spasticity	9568	GABBR2	ORPHA:442835
HP:0001257	Spasticity	9568	GABBR2	ORPHA:3095
HP:0001257	Spasticity	2555	GABRA2	ORPHA:442835
HP:0001257	Spasticity	2555	GABRA2	OMIM:618557
HP:0001257	Spasticity	55152	DALRD3	ORPHA:442835
HP:0001257	Spasticity	26999	CYFIP2	ORPHA:442835
HP:0001257	Spasticity	26999	CYFIP2	OMIM:618008
HP:0001257	Spasticity	4915	NTRK2	ORPHA:442835
HP:0001257	Spasticity	25973	PARS2	ORPHA:442835
HP:0001257	Spasticity	25973	PARS2	OMIM:618437
HP:0001257	Spasticity	23097	CDK19	ORPHA:442835
HP:0001257	Spasticity	2257	FGF12	ORPHA:442835
HP:0001257	Spasticity	5530	PPP3CA	ORPHA:442835
HP:0001257	Spasticity	5530	PPP3CA	OMIM:617711
HP:0001257	Spasticity	478	ATP1A3	ORPHA:442835
HP:0001257	Spasticity	22906	TRAK1	ORPHA:442835
HP:0001257	Spasticity	22906	TRAK1	OMIM:618201
HP:0001257	Spasticity	2566	GABRG2	ORPHA:442835
HP:0001257	Spasticity	7532	YWHAG	ORPHA:442835
HP:0001257	Spasticity	79876	UBA5	ORPHA:442835
HP:0001257	Spasticity	79876	UBA5	OMIM:617132
HP:0001257	Spasticity	6328	SCN3A	ORPHA:442835
HP:0001257	Spasticity	781	CACNA2D1	ORPHA:442835
HP:0001257	Spasticity	781	CACNA2D1	OMIM:620149
HP:0001257	Spasticity	10659	CELF2	ORPHA:442835
HP:0001257	Spasticity	774	CACNA1B	ORPHA:442835
HP:0001257	Spasticity	51412	ACTL6B	ORPHA:442835
HP:0001257	Spasticity	2290	FOXG1	ORPHA:442835
HP:0001257	Spasticity	2290	FOXG1	OMIM:613454
HP:0001257	Spasticity	6506	SLC1A2	ORPHA:442835
HP:0001257	Spasticity	6506	SLC1A2	OMIM:617105
HP:0001257	Spasticity	477	ATP1A2	ORPHA:442835
HP:0001257	Spasticity	3745	KCNB1	ORPHA:442835
HP:0001257	Spasticity	284111	SLC13A5	ORPHA:442835
HP:0001257	Spasticity	284111	SLC13A5	ORPHA:1946
HP:0001257	Spasticity	284111	SLC13A5	OMIM:615905
HP:0001257	Spasticity	22866	CNKSR2	ORPHA:442835
HP:0001257	Spasticity	773	CACNA1A	ORPHA:442835
HP:0001257	Spasticity	6323	SCN1A	ORPHA:442835
HP:0001257	Spasticity	79947	DHDDS	ORPHA:442835
HP:0001257	Spasticity	79947	DHDDS	OMIM:613861
HP:0001257	Spasticity	6905	TBCE	OMIM:617207
HP:0001257	Spasticity	55361	PI4K2A	OMIM:620732
HP:0001257	Spasticity	26834	RNU4-2	OMIM:620851
HP:0001257	Spasticity	1499	CTNNB1	ORPHA:404473
HP:0001257	Spasticity	1499	CTNNB1	OMIM:615075
HP:0001257	Spasticity	5654	HTRA1	ORPHA:199354
HP:0001257	Spasticity	5654	HTRA1	OMIM:600142
HP:0001257	Spasticity	92482	BBIP1	ORPHA:110
HP:0001257	Spasticity	80184	CEP290	ORPHA:110
HP:0001257	Spasticity	11020	IFT27	ORPHA:110
HP:0001257	Spasticity	582	BBS1	ORPHA:110
HP:0001257	Spasticity	49855	SCAPER	ORPHA:110
HP:0001257	Spasticity	4867	NPHP1	ORPHA:110
HP:0001257	Spasticity	51057	WDPCP	ORPHA:110
HP:0001257	Spasticity	132320	SCLT1	ORPHA:110
HP:0001257	Spasticity	27241	BBS9	ORPHA:110
HP:0001257	Spasticity	84984	CEP19	ORPHA:110
HP:0001257	Spasticity	22954	TRIM32	ORPHA:110
HP:0001257	Spasticity	54903	MKS1	ORPHA:110
HP:0001257	Spasticity	79738	BBS10	ORPHA:110
HP:0001257	Spasticity	123016	TTC8	ORPHA:110
HP:0001257	Spasticity	26160	IFT172	ORPHA:110
HP:0001257	Spasticity	583	BBS2	ORPHA:110
HP:0001257	Spasticity	585	BBS4	ORPHA:110
HP:0001257	Spasticity	8195	MKKS	ORPHA:110
HP:0001257	Spasticity	54585	LZTFL1	ORPHA:110
HP:0001257	Spasticity	55212	BBS7	ORPHA:110
HP:0001257	Spasticity	166379	BBS12	ORPHA:110
HP:0001257	Spasticity	10806	SDCCAG8	ORPHA:110
HP:0001257	Spasticity	157657	CFAP418	ORPHA:110
HP:0001257	Spasticity	84100	ARL6	ORPHA:110
HP:0001257	Spasticity	129880	BBS5	ORPHA:110
HP:0001257	Spasticity	80173	IFT74	ORPHA:110
HP:0001257	Spasticity	8398	PLA2G6	ORPHA:199351
HP:0001257	Spasticity	8398	PLA2G6	OMIM:612953
HP:0001257	Spasticity	8398	PLA2G6	OMIM:610217
HP:0001257	Spasticity	8398	PLA2G6	ORPHA:35069
HP:0001257	Spasticity	2911	GRM1	OMIM:617691
HP:0001257	Spasticity	29081	METTL5	OMIM:618665
HP:0001257	Spasticity	10717	AP4B1	OMIM:614066
HP:0001257	Spasticity	10717	AP4B1	ORPHA:280763
HP:0001257	Spasticity	11154	AP4S1	OMIM:614067
HP:0001257	Spasticity	11154	AP4S1	ORPHA:280763
HP:0001257	Spasticity	55773	TBC1D23	OMIM:617695
HP:0001257	Spasticity	1182	CLCN3	OMIM:619517
HP:0001257	Spasticity	92609	TIMM50	OMIM:617698
HP:0001257	Spasticity	92609	TIMM50	ORPHA:505216
HP:0001257	Spasticity	391356	PTRHD1	OMIM:620747
HP:0001257	Spasticity	51692	CPSF3	OMIM:619876
HP:0001257	Spasticity	8021	NUP214	OMIM:618426
HP:0001257	Spasticity	2517	FUCA1	ORPHA:349
HP:0001257	Spasticity	285362	SUMF1	OMIM:272200
HP:0001257	Spasticity	8517	IKBKG	ORPHA:464
HP:0001257	Spasticity	8517	IKBKG	OMIM:308300
HP:0001257	Spasticity	472	ATM	ORPHA:100
HP:0001257	Spasticity	10908	PNPLA6	OMIM:215470
HP:0001257	Spasticity	55210	ATAD3A	ORPHA:496790
HP:0001257	Spasticity	55210	ATAD3A	OMIM:617183
HP:0001257	Spasticity	55210	ATAD3A	OMIM:618810
HP:0001257	Spasticity	4644	MYO5A	ORPHA:33445
HP:0001257	Spasticity	51633	OTUD6B	ORPHA:505237
HP:0001257	Spasticity	9533	POLR1C	OMIM:616494
HP:0001257	Spasticity	54828	BCAS3	OMIM:619641
HP:0001257	Spasticity	79991	STN1	OMIM:617341
HP:0001257	Spasticity	9276	COPB2	OMIM:619884
HP:0001257	Spasticity	9276	COPB2	OMIM:617800
HP:0001257	Spasticity	122961	ISCA2	OMIM:616370
HP:0001257	Spasticity	8733	GPAA1	ORPHA:529665
HP:0001257	Spasticity	8733	GPAA1	OMIM:617810
HP:0001257	Spasticity	27086	FOXP1	ORPHA:391372
HP:0001257	Spasticity	253959	RALGAPA1	OMIM:618797
HP:0001257	Spasticity	11041	B4GAT1	OMIM:615287
HP:0001257	Spasticity	2232	FDXR	ORPHA:543470
HP:0001257	Spasticity	7358	UGDH	OMIM:618792
HP:0001257	Spasticity	113179	ADAT3	OMIM:615286
HP:0001257	Spasticity	113179	ADAT3	ORPHA:363528
HP:0001257	Spasticity	6942	TCF20	OMIM:618430
HP:0001257	Spasticity	56947	MFF	ORPHA:485421
HP:0001257	Spasticity	56947	MFF	OMIM:617086
HP:0001257	Spasticity	2904	GRIN2B	OMIM:616139
HP:0001257	Spasticity	2904	GRIN2B	OMIM:613970
HP:0001257	Spasticity	6621	SNAPC4	OMIM:620515
HP:0001257	Spasticity	146227	BEAN1	ORPHA:217012
HP:0001257	Spasticity	11261	CHP1	OMIM:618438
HP:0001257	Spasticity	9968	MED12	OMIM:305450
HP:0001257	Spasticity	38	ACAT1	ORPHA:134
HP:0001257	Spasticity	4854	NOTCH3	ORPHA:136
HP:0001257	Spasticity	23556	PIGN	OMIM:614080
HP:0001257	Spasticity	1436	CSF1R	OMIM:221820
HP:0001257	Spasticity	1436	CSF1R	OMIM:618476
HP:0001257	Spasticity	7143	TNR	OMIM:619653
HP:0001257	Spasticity	23162	MAPK8IP3	OMIM:618443
HP:0001257	Spasticity	6324	SCN1B	OMIM:617350
HP:0001257	Spasticity	6324	SCN1B	ORPHA:1934
HP:0001257	Spasticity	79989	IFT56	OMIM:619534
HP:0001257	Spasticity	125988	MICOS13	OMIM:618329
HP:0001257	Spasticity	23499	MACF1	OMIM:618325
HP:0001257	Spasticity	23499	MACF1	ORPHA:572013
HP:0001257	Spasticity	374969	SVBP	OMIM:618569
HP:0001257	Spasticity	4733	DRG1	OMIM:620641
HP:0001257	Spasticity	404672	GTF2H5	ORPHA:33364
HP:0001257	Spasticity	833	CARS1	ORPHA:33364
HP:0001257	Spasticity	2068	ERCC2	ORPHA:33364
HP:0001257	Spasticity	2068	ERCC2	ORPHA:910
HP:0001257	Spasticity	2068	ERCC2	ORPHA:220295
HP:0001257	Spasticity	2068	ERCC2	OMIM:278730
HP:0001257	Spasticity	7737	RNF113A	ORPHA:33364
HP:0001257	Spasticity	136647	MPLKIP	ORPHA:33364
HP:0001257	Spasticity	6897	TARS1	ORPHA:33364
HP:0001257	Spasticity	2071	ERCC3	ORPHA:33364
HP:0001257	Spasticity	2071	ERCC3	ORPHA:910
HP:0001257	Spasticity	2071	ERCC3	ORPHA:220295
HP:0001257	Spasticity	2961	GTF2E2	ORPHA:33364
HP:0001257	Spasticity	79641	ROGDI	ORPHA:1946
HP:0001257	Spasticity	79641	ROGDI	OMIM:226750
HP:0001257	Spasticity	8813	DPM1	ORPHA:79322
HP:0001257	Spasticity	1967	EIF2B1	OMIM:603896
HP:0001257	Spasticity	3897	L1CAM	OMIM:304100
HP:0001257	Spasticity	3897	L1CAM	OMIM:307000
HP:0001257	Spasticity	3897	L1CAM	ORPHA:2182
HP:0001257	Spasticity	3897	L1CAM	ORPHA:1497
HP:0001257	Spasticity	9896	FIG4	ORPHA:208441
HP:0001257	Spasticity	9896	FIG4	ORPHA:803
HP:0001257	Spasticity	6812	STXBP1	ORPHA:599373
HP:0001257	Spasticity	2629	GBA1	ORPHA:77260
HP:0001257	Spasticity	2629	GBA1	OMIM:230900
HP:0001257	Spasticity	7040	TGFB1	OMIM:618213
HP:0001257	Spasticity	205327	C2orf69	OMIM:619423
HP:0001257	Spasticity	81570	CLPB	OMIM:616271
HP:0001257	Spasticity	81570	CLPB	ORPHA:445038
HP:0001257	Spasticity	1892	ECHS1	OMIM:616277
HP:0001257	Spasticity	51117	COQ4	OMIM:616276
HP:0001257	Spasticity	133686	NADK2	OMIM:616034
HP:0001257	Spasticity	3658	IREB2	OMIM:618451
HP:0001257	Spasticity	84188	FAR1	OMIM:616154
HP:0001257	Spasticity	120	ADD3	OMIM:617008
HP:0001257	Spasticity	164	AP1G1	OMIM:619548
HP:0001257	Spasticity	164	AP1G1	OMIM:619467
HP:0001257	Spasticity	835	CASP2	OMIM:620653
HP:0001257	Spasticity	5277	PIGA	OMIM:301072
HP:0001257	Spasticity	5277	PIGA	OMIM:300868
HP:0001257	Spasticity	8905	AP1S2	OMIM:304340
HP:0001257	Spasticity	78987	CRELD1	OMIM:620771
HP:0001257	Spasticity	6792	CDKL5	ORPHA:1934
HP:0001257	Spasticity	6792	CDKL5	ORPHA:3095
HP:0001257	Spasticity	3736	KCNA1	ORPHA:1934
HP:0001257	Spasticity	9091	PIGQ	ORPHA:1934
HP:0001257	Spasticity	140679	SLC32A1	ORPHA:1934
HP:0001257	Spasticity	2775	GNAO1	ORPHA:1934
HP:0001257	Spasticity	2775	GNAO1	OMIM:617493
HP:0001257	Spasticity	81603	TRIM8	ORPHA:1934
HP:0001257	Spasticity	2902	GRIN1	ORPHA:1934
HP:0001257	Spasticity	2902	GRIN1	ORPHA:208447
HP:0001257	Spasticity	2902	GRIN1	OMIM:617820
HP:0001257	Spasticity	2902	GRIN1	OMIM:614254
HP:0001257	Spasticity	79751	SLC25A22	ORPHA:1934
HP:0001257	Spasticity	79751	SLC25A22	OMIM:609304
HP:0001257	Spasticity	150094	SIK1	ORPHA:1934
HP:0001257	Spasticity	8573	CASK	ORPHA:1934
HP:0001257	Spasticity	8573	CASK	OMIM:300749
HP:0001257	Spasticity	8573	CASK	ORPHA:163937
HP:0001257	Spasticity	23312	DMXL2	ORPHA:1934
HP:0001257	Spasticity	2917	GRM7	ORPHA:1934
HP:0001257	Spasticity	170302	ARX	ORPHA:1934
HP:0001257	Spasticity	170302	ARX	ORPHA:452
HP:0001257	Spasticity	170302	ARX	ORPHA:3175
HP:0001257	Spasticity	170302	ARX	OMIM:300215
HP:0001257	Spasticity	170302	ARX	ORPHA:2508
HP:0001257	Spasticity	11284	PNKP	ORPHA:1934
HP:0001257	Spasticity	6326	SCN2A	ORPHA:1934
HP:0001257	Spasticity	51227	PIGP	ORPHA:1934
HP:0001257	Spasticity	4761	NEUROD2	ORPHA:1934
HP:0001257	Spasticity	4001	LMNB1	ORPHA:99027
HP:0001257	Spasticity	4001	LMNB1	OMIM:169500
HP:0001257	Spasticity	84706	GPT2	OMIM:616281
HP:0001257	Spasticity	3155	HMGCL	ORPHA:20
HP:0001257	Spasticity	3155	HMGCL	OMIM:246450
HP:0001257	Spasticity	84894	LINGO1	OMIM:618103
HP:0001257	Spasticity	10785	WDR4	OMIM:618346
HP:0001257	Spasticity	4723	NDUFV1	OMIM:618225
HP:0001257	Spasticity	23516	SLC39A14	OMIM:617013
HP:0001257	Spasticity	23516	SLC39A14	ORPHA:521406
HP:0001257	Spasticity	23345	SYNE1	ORPHA:88644
HP:0001257	Spasticity	23345	SYNE1	OMIM:610743
HP:0001257	Spasticity	2495	FTH1	OMIM:620669
HP:0001257	Spasticity	85476	GFM1	OMIM:609060
HP:0001257	Spasticity	83548	COG3	OMIM:620546
HP:0001257	Spasticity	4729	NDUFV2	OMIM:618229
HP:0001257	Spasticity	253738	EBF3	ORPHA:96148
HP:0001257	Spasticity	84320	ACBD6	OMIM:620785
HP:0001257	Spasticity	6709	SPTAN1	OMIM:620540
HP:0001257	Spasticity	128869	PIGU	OMIM:618590
HP:0001257	Spasticity	22854	NTNG1	ORPHA:3095
HP:0001257	Spasticity	4204	MECP2	ORPHA:3095
HP:0001257	Spasticity	4204	MECP2	OMIM:312750
HP:0001257	Spasticity	4204	MECP2	ORPHA:209370
HP:0001257	Spasticity	8243	SMC1A	ORPHA:3095
HP:0001257	Spasticity	8243	SMC1A	ORPHA:220386
HP:0001257	Spasticity	11277	TREX1	OMIM:225750
HP:0001257	Spasticity	11277	TREX1	ORPHA:51
HP:0001257	Spasticity	283989	TSEN54	OMIM:225753
HP:0001257	Spasticity	283989	TSEN54	ORPHA:2524
HP:0001257	Spasticity	4695	NDUFA2	OMIM:618235
HP:0001257	Spasticity	6651	SON	OMIM:617140
HP:0001257	Spasticity	6651	SON	ORPHA:500150
HP:0001257	Spasticity	10978	CLP1	ORPHA:411493
HP:0001257	Spasticity	10978	CLP1	OMIM:615803
HP:0001257	Spasticity	7453	WARS1	OMIM:620317
HP:0001257	Spasticity	112939	NACC1	ORPHA:500545
HP:0001257	Spasticity	112939	NACC1	OMIM:617393
HP:0001257	Spasticity	1654	DDX3X	ORPHA:457260
HP:0001257	Spasticity	1654	DDX3X	OMIM:300958
HP:0001257	Spasticity	79133	NDUFAF5	OMIM:618238
HP:0001257	Spasticity	6833	ABCC8	OMIM:240800
HP:0001257	Spasticity	8890	EIF2B4	OMIM:620314
HP:0001257	Spasticity	2581	GALC	ORPHA:206448
HP:0001257	Spasticity	2581	GALC	ORPHA:206436
HP:0001257	Spasticity	25885	POLR1A	OMIM:620675
HP:0001257	Spasticity	8892	EIF2B2	OMIM:620312
HP:0001257	Spasticity	443	ASPA	ORPHA:314911
HP:0001257	Spasticity	387119	CEP85L	ORPHA:572013
HP:0001257	Spasticity	10166	SLC25A15	OMIM:238970
HP:0001257	Spasticity	6904	TBCD	ORPHA:496641
HP:0001257	Spasticity	10059	DNM1L	ORPHA:98673
HP:0001257	Spasticity	4976	OPA1	ORPHA:98673
HP:0001257	Spasticity	4976	OPA1	OMIM:125250
HP:0001257	Spasticity	1725	DHPS	OMIM:618480
HP:0001257	Spasticity	427	ASAH1	ORPHA:333
HP:0001257	Spasticity	56915	EXOSC5	OMIM:619576
HP:0001257	Spasticity	51132	RLIM	OMIM:300978
HP:0001257	Spasticity	10588	MTHFS	OMIM:618367
HP:0001257	Spasticity	63925	ZNF335	OMIM:615095
HP:0001257	Spasticity	4125	MAN2B1	OMIM:248500
HP:0001257	Spasticity	92255	LMBRD2	OMIM:619694
HP:0001257	Spasticity	80224	NUBPL	OMIM:618242
HP:0001257	Spasticity	54834	GDAP2	OMIM:618369
HP:0001257	Spasticity	51704	GPRC5B	OMIM:620447
HP:0001257	Spasticity	361	AQP4	OMIM:620448
HP:0001257	Spasticity	3376	IARS1	ORPHA:541423
HP:0001257	Spasticity	3376	IARS1	OMIM:617093
HP:0001257	Spasticity	29920	PYCR2	ORPHA:481152
HP:0001257	Spasticity	29920	PYCR2	OMIM:616420
HP:0001257	Spasticity	10092	ARPC5	OMIM:620565
HP:0001257	Spasticity	4141	MARS1	OMIM:620323
HP:0001257	Spasticity	23203	PMPCA	OMIM:213200
HP:0001257	Spasticity	23203	PMPCA	ORPHA:1170
HP:0001257	Spasticity	549	AUH	OMIM:250950
HP:0001257	Spasticity	4864	NPC1	OMIM:257220
HP:0001257	Spasticity	8604	SLC25A12	OMIM:612949
HP:0001257	Spasticity	2632	GBE1	ORPHA:206583
HP:0001257	Spasticity	538	ATP7A	ORPHA:565
HP:0001257	Spasticity	1781	DYNC1I2	OMIM:618492
HP:0001257	Spasticity	112812	FDX2	OMIM:251900
HP:0001257	Spasticity	51102	MECR	OMIM:617282
HP:0001257	Spasticity	51102	MECR	ORPHA:508093
HP:0001257	Spasticity	23111	SPART	ORPHA:101000
HP:0001257	Spasticity	23258	DENND5A	OMIM:617281
HP:0001257	Spasticity	51324	SPG21	ORPHA:101001
HP:0001257	Spasticity	5903	RANBP2	ORPHA:88619
HP:0001257	Spasticity	2743	GLRB	ORPHA:3197
HP:0001257	Spasticity	2741	GLRA1	ORPHA:3197
HP:0001257	Spasticity	10243	GPHN	ORPHA:3197
HP:0001257	Spasticity	84896	ATAD1	ORPHA:3197
HP:0001257	Spasticity	9152	SLC6A5	ORPHA:3197
HP:0001257	Spasticity	27316	RBMX	OMIM:309555
HP:0001257	Spasticity	6390	SDHB	OMIM:619224
HP:0001257	Spasticity	6390	SDHB	ORPHA:3208
HP:0001257	Spasticity	2009	EML1	OMIM:600348
HP:0001257	Spasticity	9757	KMT2B	OMIM:617284
HP:0001257	Spasticity	9758	FRMPD4	OMIM:300983
HP:0001257	Spasticity	4700	NDUFA6	OMIM:618253
HP:0001257	Spasticity	8635	RNASET2	OMIM:612951
HP:0001257	Spasticity	6304	SATB1	OMIM:619228
HP:0001257	Spasticity	6304	SATB1	OMIM:619229
HP:0001257	Spasticity	25939	SAMHD1	OMIM:612952
HP:0001257	Spasticity	25939	SAMHD1	ORPHA:51
HP:0001257	Spasticity	64374	SIL1	ORPHA:559
HP:0001257	Spasticity	64374	SIL1	OMIM:248800
HP:0001257	Spasticity	1974	EIF4A2	OMIM:620455
HP:0001257	Spasticity	4548	MTR	OMIM:250940
HP:0001257	Spasticity	26040	SETBP1	ORPHA:798
HP:0001257	Spasticity	6874	TAF4	OMIM:620450
HP:0001257	Spasticity	6697	SPR	OMIM:612716
HP:0001257	Spasticity	3251	HPRT1	ORPHA:510
HP:0001257	Spasticity	3251	HPRT1	OMIM:300322
HP:0001257	Spasticity	57187	THOC2	OMIM:300957
HP:0001257	Spasticity	27107	ZBTB11	OMIM:618383
HP:0001257	Spasticity	2892	GRIA3	ORPHA:364028
HP:0001257	Spasticity	6711	SPTBN1	OMIM:619475
HP:0001257	Spasticity	9927	MFN2	OMIM:609260
HP:0001257	Spasticity	92935	MARS2	ORPHA:314603
HP:0001257	Spasticity	92935	MARS2	OMIM:611390
HP:0001257	Spasticity	378884	NHLRC1	ORPHA:501
HP:0001257	Spasticity	7957	EPM2A	ORPHA:501
HP:0001257	Spasticity	1528	CYB5A	ORPHA:621
HP:0001257	Spasticity	1727	CYB5R3	ORPHA:621
HP:0001257	Spasticity	2571	GAD1	OMIM:619124
HP:0001257	Spasticity	100147744	RNU7-1	OMIM:619487
HP:0001257	Spasticity	100147744	RNU7-1	ORPHA:51
HP:0001257	Spasticity	6872	TAF1	OMIM:300966
HP:0001257	Spasticity	90522	YIF1B	OMIM:619125
HP:0001257	Spasticity	60558	GUF1	OMIM:617065
HP:0001257	Spasticity	84340	GFM2	OMIM:618397
HP:0001257	Spasticity	23287	AGTPBP1	OMIM:618276
HP:0001257	Spasticity	23287	AGTPBP1	ORPHA:2254
HP:0001257	Spasticity	57038	RARS2	OMIM:611523
HP:0001257	Spasticity	7284	TUFM	OMIM:610678
HP:0001257	Spasticity	6663	SOX10	OMIM:609136
HP:0001257	Spasticity	6663	SOX10	ORPHA:163746
HP:0001257	Spasticity	26278	SACS	OMIM:270550
HP:0001257	Spasticity	26278	SACS	ORPHA:98
HP:0001257	Spasticity	55670	PEX26	ORPHA:772
HP:0001257	Spasticity	5824	PEX19	ORPHA:772
HP:0001257	Spasticity	5828	PEX2	ORPHA:772
HP:0001257	Spasticity	8504	PEX3	ORPHA:772
HP:0001257	Spasticity	9409	PEX16	ORPHA:772
HP:0001257	Spasticity	9409	PEX16	OMIM:614877
HP:0001257	Spasticity	5190	PEX6	ORPHA:772
HP:0001257	Spasticity	8799	PEX11B	ORPHA:772
HP:0001257	Spasticity	5830	PEX5	ORPHA:772
HP:0001257	Spasticity	5189	PEX1	ORPHA:772
HP:0001257	Spasticity	5193	PEX12	ORPHA:772
HP:0001257	Spasticity	5194	PEX13	ORPHA:772
HP:0001257	Spasticity	5195	PEX14	ORPHA:772
HP:0001257	Spasticity	5192	PEX10	ORPHA:772
HP:0001257	Spasticity	23636	NUP62	ORPHA:225154
HP:0001257	Spasticity	23636	NUP62	OMIM:271930
HP:0001257	Spasticity	53371	NUP54	ORPHA:225154
HP:0001257	Spasticity	103	ADAR	ORPHA:225154
HP:0001257	Spasticity	103	ADAR	ORPHA:51
HP:0001257	Spasticity	8242	KDM5C	ORPHA:85279
HP:0001257	Spasticity	8242	KDM5C	OMIM:300534
HP:0001257	Spasticity	1315	COPB1	OMIM:619255
HP:0001257	Spasticity	4668	NAGA	OMIM:609241
HP:0001257	Spasticity	4668	NAGA	ORPHA:79279
HP:0001257	Spasticity	727676	SNORD118	ORPHA:542310
HP:0001257	Spasticity	727676	SNORD118	OMIM:614561
HP:0001257	Spasticity	283	ANG	OMIM:611895
HP:0001257	Spasticity	283	ANG	ORPHA:803
HP:0001257	Spasticity	7415	VCP	OMIM:613954
HP:0001257	Spasticity	7415	VCP	ORPHA:803
HP:0001257	Spasticity	5216	PFN1	OMIM:614808
HP:0001257	Spasticity	5216	PFN1	ORPHA:803
HP:0001257	Spasticity	84153	RNASEH2C	OMIM:610329
HP:0001257	Spasticity	84153	RNASEH2C	ORPHA:51
HP:0001257	Spasticity	8139	GAN	ORPHA:643
HP:0001257	Spasticity	224	ALDH3A2	OMIM:270200
HP:0001257	Spasticity	224	ALDH3A2	ORPHA:816
HP:0001257	Spasticity	4860	PNP	ORPHA:760
HP:0001257	Spasticity	56922	MCCC1	ORPHA:6
HP:0001257	Spasticity	64087	MCCC2	ORPHA:6
HP:0001257	Spasticity	114034	TOE1	ORPHA:284339
HP:0001257	Spasticity	114034	TOE1	OMIM:614969
HP:0001257	Spasticity	9562	MINPP1	ORPHA:284339
HP:0001257	Spasticity	91574	MTRFR	ORPHA:320375
HP:0001257	Spasticity	10535	RNASEH2A	OMIM:610333
HP:0001257	Spasticity	10535	RNASEH2A	ORPHA:51
HP:0001257	Spasticity	23236	PLCB1	OMIM:613722
HP:0001257	Spasticity	11342	RNF13	ORPHA:544503
HP:0001257	Spasticity	27445	PCLO	OMIM:608027
HP:0001257	Spasticity	50640	PNPLA8	OMIM:251950
HP:0001257	Spasticity	90952	ESAM	OMIM:620371
HP:0001257	Spasticity	11113	CIT	OMIM:617090
HP:0001257	Spasticity	27183	VPS4A	OMIM:619273
HP:0001257	Spasticity	10128	LRPPRC	OMIM:220111
HP:0001257	Spasticity	10128	LRPPRC	ORPHA:70472
HP:0001257	Spasticity	2643	GCH1	OMIM:128230
HP:0001257	Spasticity	158	ADSL	OMIM:103050
HP:0001257	Spasticity	6535	SLC6A8	OMIM:300352
HP:0001257	Spasticity	375	ARF1	OMIM:618185
HP:0001257	Spasticity	8506	CNTNAP1	OMIM:618186
HP:0001257	Spasticity	5393	EXOSC9	OMIM:618065
HP:0001257	Spasticity	5393	EXOSC9	ORPHA:2254
HP:0001257	Spasticity	83700	JAM3	OMIM:613730
HP:0001257	Spasticity	1593	CYP27A1	OMIM:213700
HP:0001257	Spasticity	1593	CYP27A1	ORPHA:909
HP:0001257	Spasticity	25821	MTO1	OMIM:614702
HP:0001257	Spasticity	55624	POMGNT1	OMIM:253280
HP:0001257	Spasticity	132158	GLYCTK	ORPHA:941
HP:0001257	Spasticity	132158	GLYCTK	OMIM:220120
HP:0001257	Spasticity	4758	NEU1	ORPHA:93399
HP:0001257	Spasticity	4758	NEU1	ORPHA:93400
HP:0001257	Spasticity	4983	OPHN1	OMIM:300486
HP:0001257	Spasticity	51112	TRAPPC12	ORPHA:500144
HP:0001257	Spasticity	51506	UFC1	OMIM:618076
HP:0001257	Spasticity	9442	MED27	OMIM:619286
HP:0001257	Spasticity	6311	ATXN2	OMIM:183090
HP:0001257	Spasticity	6311	ATXN2	ORPHA:803
HP:0001257	Spasticity	25914	RTTN	OMIM:614833
HP:0001257	Spasticity	25914	RTTN	ORPHA:468631
HP:0001257	Spasticity	9640	ZNF592	ORPHA:83472
HP:0001257	Spasticity	80055	PGAP1	OMIM:615802
HP:0001257	Spasticity	23431	AP4E1	OMIM:613744
HP:0001257	Spasticity	23431	AP4E1	ORPHA:280763
HP:0001257	Spasticity	9915	ARNT2	OMIM:615926
HP:0001257	Spasticity	57582	KCNT1	OMIM:614959
HP:0001257	Spasticity	26580	BSCL2	OMIM:615924
HP:0001257	Spasticity	26580	BSCL2	ORPHA:363400
HP:0001257	Spasticity	150468	CKAP2L	ORPHA:3255
HP:0001257	Spasticity	271	AMPD2	OMIM:615809
HP:0001257	Spasticity	271	AMPD2	ORPHA:401805
HP:0001257	Spasticity	4718	NDUFC2	OMIM:619170
HP:0001257	Spasticity	1738	DLD	ORPHA:2394
HP:0001257	Spasticity	1351	COX8A	OMIM:619059
HP:0001257	Spasticity	8913	CACNA1G	OMIM:618087
HP:0001257	Spasticity	64207	IRF2BPL	OMIM:618088
HP:0001257	Spasticity	5119	CHMP1A	OMIM:614961
HP:0001257	Spasticity	3845	KRAS	ORPHA:2396
HP:0001257	Spasticity	1509	CTSD	OMIM:610127
HP:0001257	Spasticity	23325	WASHC4	OMIM:615817
HP:0001257	Spasticity	5428	POLG	ORPHA:726
HP:0001257	Spasticity	7276	TTR	OMIM:105210
HP:0001257	Spasticity	1678	TIMM8A	OMIM:304700
HP:0001257	Spasticity	815	CAMK2A	OMIM:618095
HP:0001257	Spasticity	57531	HACE1	ORPHA:464282
HP:0001257	Spasticity	9839	ZEB2	ORPHA:261552
HP:0001257	Spasticity	9839	ZEB2	ORPHA:261537
HP:0001257	Spasticity	64919	BCL11B	OMIM:618092
HP:0001257	Spasticity	9445	ITM2B	OMIM:117300
HP:0001257	Spasticity	9445	ITM2B	OMIM:176500
HP:0001257	Spasticity	26053	AUTS2	ORPHA:352490
HP:0001257	Spasticity	26090	ABHD12	OMIM:612674
HP:0001257	Spasticity	55157	DARS2	OMIM:611105
HP:0001257	Spasticity	10382	TUBB4A	OMIM:612438
HP:0001257	Spasticity	84947	SERAC1	OMIM:614739
HP:0001257	Spasticity	2395	FXN	ORPHA:95
HP:0001257	Spasticity	2512	FTL	OMIM:606159
HP:0001257	Spasticity	7025	NR2F1	ORPHA:401777
HP:0001257	Spasticity	7025	NR2F1	OMIM:615722
HP:0001257	Spasticity	149371	EXOC8	OMIM:619076
HP:0001257	Spasticity	3028	HSD17B10	OMIM:300438
HP:0001257	Spasticity	6804	STX1A	ORPHA:904
HP:0001257	Spasticity	7461	CLIP2	ORPHA:904
HP:0001257	Spasticity	84277	DNAJC30	ORPHA:904
HP:0001257	Spasticity	8468	FKBP6	ORPHA:904
HP:0001257	Spasticity	5982	RFC2	ORPHA:904
HP:0001257	Spasticity	2969	GTF2I	ORPHA:904
HP:0001257	Spasticity	3984	LIMK1	ORPHA:904
HP:0001257	Spasticity	9569	GTF2IRD1	ORPHA:904
HP:0001257	Spasticity	155382	VPS37D	ORPHA:904
HP:0001257	Spasticity	155368	METTL27	ORPHA:904
HP:0001257	Spasticity	114049	BUD23	ORPHA:904
HP:0001257	Spasticity	7458	EIF4H	ORPHA:904
HP:0001257	Spasticity	84163	GTF2IRD2	ORPHA:904
HP:0001257	Spasticity	26608	TBL2	ORPHA:904
HP:0001257	Spasticity	653361	NCF1	ORPHA:904
HP:0001257	Spasticity	135886	TMEM270	ORPHA:904
HP:0001257	Spasticity	9031	BAZ1B	ORPHA:904
HP:0001257	Spasticity	2006	ELN	ORPHA:904
HP:0001257	Spasticity	11340	EXOSC8	ORPHA:2254
HP:0001257	Spasticity	51010	EXOSC3	ORPHA:2254
HP:0001257	Spasticity	51010	EXOSC3	OMIM:614678
HP:0001257	Spasticity	7443	VRK1	ORPHA:2254
HP:0001257	Spasticity	91137	SLC25A46	ORPHA:2254
HP:0001257	Spasticity	285175	UNC80	OMIM:616801
HP:0001257	Spasticity	2073	ERCC5	OMIM:278780
HP:0001257	Spasticity	2073	ERCC5	ORPHA:910
HP:0001257	Spasticity	2073	ERCC5	ORPHA:220295
HP:0001257	Spasticity	90624	LYRM7	OMIM:615838
HP:0001257	Spasticity	1282	COL4A1	OMIM:175780
HP:0001257	Spasticity	9289	ADGRG1	ORPHA:98889
HP:0001257	Spasticity	5297	PI4KA	ORPHA:98889
HP:0001257	Spasticity	27286	SRPX2	ORPHA:98889
HP:0001257	Spasticity	9990	SLC12A6	OMIM:620068
HP:0001257	Spasticity	80025	PANK2	OMIM:234200
HP:0001257	Spasticity	80025	PANK2	ORPHA:216873
HP:0001257	Spasticity	80025	PANK2	ORPHA:216866
HP:0001257	Spasticity	6609	SMPD1	OMIM:257200
HP:0001257	Spasticity	11128	POLR3A	ORPHA:447896
HP:0001257	Spasticity	11128	POLR3A	ORPHA:3455
HP:0001257	Spasticity	11128	POLR3A	OMIM:607694
HP:0001257	Spasticity	6558	SLC12A2	OMIM:619083
HP:0001257	Spasticity	724066	ATXN8	ORPHA:98760
HP:0001257	Spasticity	724066	ATXN8	OMIM:608768
HP:0001257	Spasticity	6315	ATXN8OS	ORPHA:98760
HP:0001257	Spasticity	6315	ATXN8OS	OMIM:608768
HP:0001257	Spasticity	56623	INPP5E	OMIM:610156
HP:0001257	Spasticity	9440	MED17	OMIM:613668
HP:0001257	Spasticity	25828	TXN2	OMIM:616811
HP:0001257	Spasticity	84919	PPP1R15B	OMIM:616817
HP:0001257	Spasticity	6908	TBP	ORPHA:98759
HP:0001257	Spasticity	23204	ARL6IP1	ORPHA:401780
HP:0001257	Spasticity	23204	ARL6IP1	OMIM:615685
HP:0001257	Spasticity	7846	TUBA1A	ORPHA:171680
HP:0001257	Spasticity	22880	MORC2	OMIM:619090
HP:0001257	Spasticity	26047	CNTNAP2	OMIM:610042
HP:0001257	Spasticity	6389	SDHA	ORPHA:3208
HP:0001257	Spasticity	6389	SDHA	OMIM:252011
HP:0001257	Spasticity	6392	SDHD	ORPHA:3208
HP:0001257	Spasticity	644096	SDHAF1	ORPHA:3208
HP:0001257	Spasticity	55275	VPS53	OMIM:615851
HP:0001257	Spasticity	50628	GEMIN4	OMIM:617913
HP:0001257	Spasticity	2146	EZH2	OMIM:277590
HP:0001257	Spasticity	2146	EZH2	ORPHA:3447
HP:0001257	Spasticity	3954	LETM1	OMIM:620089
HP:0001257	Spasticity	25978	CHMP2B	ORPHA:803
HP:0001257	Spasticity	3178	HNRNPA1	ORPHA:803
HP:0001257	Spasticity	8148	TAF15	ORPHA:803
HP:0001257	Spasticity	5445	PON2	ORPHA:803
HP:0001257	Spasticity	9217	VAPB	ORPHA:803
HP:0001257	Spasticity	8878	SQSTM1	ORPHA:803
HP:0001257	Spasticity	5630	PRPH	ORPHA:803
HP:0001257	Spasticity	5630	PRPH	OMIM:105400
HP:0001257	Spasticity	29110	TBK1	ORPHA:803
HP:0001257	Spasticity	55830	GLT8D1	ORPHA:803
HP:0001257	Spasticity	755	CFAP410	ORPHA:803
HP:0001257	Spasticity	10891	PPARGC1A	ORPHA:803
HP:0001257	Spasticity	6647	SOD1	ORPHA:803
HP:0001257	Spasticity	6647	SOD1	OMIM:105400
HP:0001257	Spasticity	10133	OPTN	ORPHA:803
HP:0001257	Spasticity	1639	DCTN1	ORPHA:803
HP:0001257	Spasticity	1639	DCTN1	OMIM:105400
HP:0001257	Spasticity	5444	PON1	ORPHA:803
HP:0001257	Spasticity	5446	PON3	ORPHA:803
HP:0001257	Spasticity	4744	NEFH	ORPHA:803
HP:0001257	Spasticity	4744	NEFH	OMIM:105400
HP:0001257	Spasticity	9782	MATR3	ORPHA:803
HP:0001257	Spasticity	54209	TREM2	ORPHA:803
HP:0001257	Spasticity	54209	TREM2	ORPHA:2770
HP:0001257	Spasticity	23435	TARDBP	ORPHA:803
HP:0001257	Spasticity	23435	TARDBP	OMIM:612069
HP:0001257	Spasticity	29978	UBQLN2	ORPHA:803
HP:0001257	Spasticity	2733	GLE1	ORPHA:803
HP:0001257	Spasticity	2521	FUS	ORPHA:803
HP:0001257	Spasticity	1610	DAO	ORPHA:803
HP:0001257	Spasticity	2066	ERBB4	ORPHA:803
HP:0001257	Spasticity	311	ANXA11	ORPHA:803
HP:0001257	Spasticity	23025	UNC13A	ORPHA:803
HP:0001257	Spasticity	899	CCNF	ORPHA:803
HP:0001257	Spasticity	400916	CHCHD10	ORPHA:803
HP:0001257	Spasticity	64324	NSD1	ORPHA:3447
HP:0001257	Spasticity	23512	SUZ12	ORPHA:3447
HP:0001257	Spasticity	84978	FRMD5	OMIM:620094
HP:0001257	Spasticity	6567	SLC16A2	ORPHA:59
HP:0001257	Spasticity	23503	ZFYVE26	ORPHA:100996
HP:0001257	Spasticity	25793	FBXO7	ORPHA:171695
HP:0001257	Spasticity	80207	OPA3	OMIM:258501
HP:0001257	Spasticity	9894	TELO2	OMIM:616954
HP:0001257	Spasticity	9894	TELO2	ORPHA:488642
HP:0001257	Spasticity	57410	SCYL1	OMIM:616719
HP:0001257	Spasticity	57410	SCYL1	ORPHA:466794
HP:0001257	Spasticity	9230	RAB11B	OMIM:617807
HP:0001257	Spasticity	79621	RNASEH2B	ORPHA:51
HP:0001257	Spasticity	134353	LSM11	ORPHA:51
HP:0001257	Spasticity	64135	IFIH1	ORPHA:51
HP:0001257	Spasticity	6310	ATXN1	OMIM:164400
HP:0001257	Spasticity	7507	XPA	ORPHA:910
HP:0001257	Spasticity	7507	XPA	OMIM:278700
HP:0001257	Spasticity	7508	XPC	ORPHA:910
HP:0001257	Spasticity	1643	DDB2	ORPHA:910
HP:0001257	Spasticity	2072	ERCC4	ORPHA:910
HP:0001257	Spasticity	2072	ERCC4	ORPHA:220295
HP:0001257	Spasticity	6513	SLC2A1	ORPHA:71277
HP:0001257	Spasticity	6513	SLC2A1	OMIM:608885
HP:0001257	Spasticity	6513	SLC2A1	OMIM:606777
HP:0001257	Spasticity	55906	ZC4H2	OMIM:301041
HP:0001257	Spasticity	55906	ZC4H2	OMIM:314580
HP:0001257	Spasticity	6683	SPAST	ORPHA:100985
HP:0001257	Spasticity	7167	TPI1	OMIM:615512
HP:0001257	Spasticity	9698	PUM1	OMIM:617931
HP:0001257	Spasticity	29926	GMPPA	OMIM:615510
HP:0001257	Spasticity	57704	GBA2	ORPHA:352641
HP:0001257	Spasticity	53616	ADAM22	OMIM:617933
HP:0001257	Spasticity	23600	AMACR	OMIM:614307
HP:0001257	Spasticity	546	ATRX	OMIM:301040
HP:0001257	Spasticity	91147	TMEM67	OMIM:216360
HP:0001257	Spasticity	55187	VPS13D	OMIM:607317
HP:0001257	Spasticity	3748	KCNC3	OMIM:605259
HP:0001257	Spasticity	4953	ODC1	ORPHA:544488
HP:0001257	Spasticity	57505	AARS2	OMIM:615889
HP:0001257	Spasticity	10273	STUB1	OMIM:615768
HP:0001257	Spasticity	79644	SRD5A3	OMIM:612379
HP:0001257	Spasticity	91869	RFT1	OMIM:612015
HP:0001257	Spasticity	51218	GLRX5	OMIM:616859
HP:0001257	Spasticity	2720	GLB1	ORPHA:79255
HP:0001257	Spasticity	2891	GRIA2	OMIM:618917
HP:0001257	Spasticity	6314	ATXN7	OMIM:164500
HP:0001257	Spasticity	10342	TFG	ORPHA:431329
HP:0001257	Spasticity	23732	FRRS1L	OMIM:616981
HP:0001257	Spasticity	9512	PMPCB	OMIM:617954
HP:0001257	Spasticity	2058	EPRS1	OMIM:617951
HP:0001257	Spasticity	54463	RETREG1	OMIM:613115
HP:0001257	Spasticity	80746	TSEN2	OMIM:612389
HP:0001257	Spasticity	80746	TSEN2	ORPHA:2524
HP:0001257	Spasticity	80208	SPG11	OMIM:602099
HP:0001257	Spasticity	80208	SPG11	OMIM:616668
HP:0001257	Spasticity	100506658	OCLN	ORPHA:1229
HP:0001257	Spasticity	100506658	OCLN	OMIM:251290
HP:0001257	Spasticity	84693	MCEE	OMIM:251120
HP:0001257	Spasticity	23400	ATP13A2	OMIM:606693
HP:0001257	Spasticity	5422	POLA1	OMIM:301030
HP:0001257	Spasticity	1641	DCX	OMIM:300067
HP:0001257	Spasticity	6687	SPG7	ORPHA:35689
HP:0001257	Spasticity	175	AGA	OMIM:208400
HP:0001257	Spasticity	27010	TPK1	OMIM:614458
HP:0001257	Spasticity	26227	PHGDH	ORPHA:79351
HP:0001257	Spasticity	55644	OSGEP	OMIM:617729
HP:0001257	Spasticity	953	ENTPD1	ORPHA:401810
HP:0001257	Spasticity	953	ENTPD1	OMIM:615683
HP:0001257	Spasticity	112858	TP53RK	OMIM:617730
HP:0001257	Spasticity	8270	LAGE3	OMIM:301006
HP:0001257	Spasticity	56978	PRDM8	OMIM:616640
HP:0001257	Spasticity	51501	HIKESHI	OMIM:616881
HP:0001257	Spasticity	81689	ISCA1	OMIM:617613
HP:0001257	Spasticity	22948	CCT5	ORPHA:139578
HP:0001257	Spasticity	51002	TPRKB	OMIM:617731
HP:0001257	Spasticity	56270	WDR45B	OMIM:617977
HP:0001257	Spasticity	7305	TYROBP	ORPHA:2770
HP:0001257	Spasticity	7305	TYROBP	OMIM:221770
HP:0001257	Spasticity	22934	RPIA	OMIM:608611
HP:0001257	Spasticity	220296	HEPACAM	OMIM:604004
HP:0001257	Spasticity	23209	MLC1	OMIM:604004
HP:0001257	Spasticity	26503	SLC17A5	OMIM:604369
HP:0001257	Spasticity	10613	ERLIN1	OMIM:615681
HP:0001257	Spasticity	116461	TSEN15	ORPHA:2524
HP:0001257	Spasticity	79042	TSEN34	ORPHA:2524
HP:0001257	Spasticity	51091	SEPSECS	ORPHA:2524
HP:0001257	Spasticity	2893	GRIA4	OMIM:617864
HP:0001257	Spasticity	79867	TCTN2	OMIM:616654
HP:0001257	Spasticity	3832	KIF11	ORPHA:2526
HP:0001257	Spasticity	57570	TRMT5	OMIM:616539
HP:0001257	Spasticity	6509	SLC1A4	OMIM:616657
HP:0001257	Spasticity	6785	ELOVL4	OMIM:133190
HP:0001257	Spasticity	617	BCS1L	OMIM:124000
HP:0001257	Spasticity	84628	NTNG2	OMIM:618718
HP:0001257	Spasticity	3708	ITPR1	OMIM:606658
HP:0001257	Spasticity	9179	AP4M1	ORPHA:280763
HP:0001257	Spasticity	5621	PRNP	OMIM:137440
HP:0001257	Spasticity	10577	NPC2	OMIM:607625
HP:0001257	Spasticity	5873	RAB27A	OMIM:607624
HP:0001257	Spasticity	54888	NSUN2	OMIM:611091
HP:0001257	Spasticity	54802	TRIT1	OMIM:617873
HP:0001257	Spasticity	23545	ATP6V0A2	ORPHA:357074
HP:0001257	Spasticity	529	ATP6V1E1	ORPHA:357074
HP:0001257	Spasticity	84631	SLITRK2	OMIM:301107
HP:0001257	Spasticity	5538	PPT1	OMIM:256730
HP:0001257	Spasticity	5455	POU3F3	OMIM:618604
HP:0001257	Spasticity	4724	NDUFS4	OMIM:252010
HP:0001257	Spasticity	100151683	RNU4ATAC	ORPHA:2636
HP:0001257	Spasticity	9439	MED23	OMIM:614249
HP:0001257	Spasticity	22930	RAB3GAP1	ORPHA:2510
HP:0001257	Spasticity	25782	RAB3GAP2	ORPHA:2510
HP:0001257	Spasticity	22931	RAB18	ORPHA:2510
HP:0001257	Spasticity	128637	TBC1D20	ORPHA:2510
HP:0001257	Spasticity	1468	SLC25A10	OMIM:618972
HP:0001257	Spasticity	1968	EIF2S3	OMIM:300148
HP:0001257	Spasticity	8884	SLC5A6	OMIM:618973
HP:0001257	Spasticity	8803	SUCLA2	OMIM:612073
HP:0001257	Spasticity	4747	NEFL	OMIM:617882
HP:0001257	Spasticity	80169	CTC1	OMIM:612199
HP:0001257	Spasticity	10844	TUBGCP2	OMIM:618737
HP:0001257	Spasticity	4858	NOVA2	OMIM:618859
HP:0001257	Spasticity	547	KIF1A	OMIM:614255
HP:0001257	Spasticity	55753	OGDHL	OMIM:619701
HP:0001257	Spasticity	3119	HLA-DQB1	OMIM:126200
HP:0001257	Spasticity	3123	HLA-DRB1	OMIM:126200
HP:0001257	Spasticity	3912	LAMB1	OMIM:615191
HP:0001257	Spasticity	10973	ASCC3	OMIM:620700
HP:0001257	Spasticity	9131	AIFM1	ORPHA:83629
HP:0001257	Spasticity	55182	RNF220	OMIM:619688
HP:0001257	Spasticity	518	ATP5MC3	OMIM:619681
HP:0001257	Spasticity	5077	PAX3	ORPHA:896
HP:0001257	Spasticity	5077	PAX3	OMIM:148820
HP:0001257	Spasticity	4509	MT-ATP8	ORPHA:254913
HP:0001257	Spasticity	514	ATP5F1E	ORPHA:254913
HP:0001257	Spasticity	513	ATP5F1D	ORPHA:254913
HP:0001257	Spasticity	84833	ATP5MK	ORPHA:254913
HP:0001257	Spasticity	91647	ATPAF2	ORPHA:254913
HP:0001257	Spasticity	7920	ABHD16A	OMIM:619735
HP:0001257	Spasticity	1130	LYST	ORPHA:167
HP:0001257	Spasticity	26154	ABCA12	OMIM:601277
HP:0001257	Spasticity	64837	KLC2	OMIM:609541
HP:0001257	Spasticity	23064	SETX	ORPHA:357043
HP:0001257	Spasticity	84842	HPDL	OMIM:619026
HP:0001257	Spasticity	84842	HPDL	OMIM:619027
HP:0001257	Spasticity	55656	INTS8	OMIM:618572
HP:0001257	Spasticity	267	AMFR	OMIM:620379
HP:0001257	Spasticity	137492	VPS37A	OMIM:614898
HP:0001257	Spasticity	5910	RAP1GDS1	OMIM:620655
HP:0001257	Spasticity	54880	BCOR	OMIM:309800
HP:0001257	Spasticity	8260	NAA10	OMIM:309800
HP:0001257	Spasticity	8050	PDHX	ORPHA:255182
HP:0001257	Spasticity	1615	DARS1	OMIM:615281
HP:0001257	Spasticity	2316	FLNA	OMIM:300048
HP:0001257	Spasticity	3295	HSD17B4	OMIM:233400
HP:0001257	Spasticity	55250	ELP2	OMIM:617270
HP:0001257	Spasticity	4697	NDUFA4	OMIM:619065
HP:0001257	Spasticity	128989	TANGO2	OMIM:616878
HP:0001257	Spasticity	4990	SIX6	OMIM:206900
HP:0001257	Spasticity	6657	SOX2	OMIM:206900
HP:0001257	Spasticity	10075	HUWE1	OMIM:309590
HP:0001257	Spasticity	84065	TMEM222	OMIM:619470
HP:0001257	Spasticity	10617	STAMBP	OMIM:614261
HP:0001257	Spasticity	51399	TRAPPC4	OMIM:618741
HP:0001257	Spasticity	6659	SOX4	OMIM:618506
HP:0001257	Spasticity	7355	SLC35A2	ORPHA:356961
HP:0001257	Spasticity	84334	COA8	ORPHA:436271
HP:0001257	Spasticity	84334	COA8	OMIM:619061
HP:0001257	Spasticity	6571	SLC18A2	ORPHA:352649
HP:0001257	Spasticity	5631	PRPS1	ORPHA:423479
HP:0001257	Spasticity	51601	LIPT1	OMIM:616299
HP:0001257	Spasticity	387787	LIPT2	OMIM:617668
HP:0001257	Spasticity	473	RERE	OMIM:616975
HP:0001257	Spasticity	4010	LMX1B	ORPHA:495818
HP:0001257	Spasticity	498	ATP5F1A	OMIM:620358
HP:0001257	Spasticity	56246	MRAP	OMIM:607398
HP:0001257	Spasticity	79944	L2HGDH	OMIM:236792
HP:0001257	Spasticity	79944	L2HGDH	ORPHA:79314
HP:0001257	Spasticity	2192	FBLN1	ORPHA:404451
HP:0001257	Spasticity	284403	WDR62	OMIM:604317
HP:0001257	Spasticity	2937	GSS	OMIM:266130
HP:0001257	Spasticity	348	APOE	OMIM:607822
HP:0001257	Spasticity	5663	PSEN1	OMIM:607822
HP:0001257	Spasticity	3899	AFF3	OMIM:619297
HP:0001257	Spasticity	29960	MRM2	OMIM:618567
HP:0001257	Spasticity	10195	ALG3	ORPHA:79321
HP:0001257	Spasticity	10195	ALG3	OMIM:601110
HP:0001257	Spasticity	124454	EARS2	OMIM:614924
HP:0001257	Spasticity	29968	PSAT1	ORPHA:284417
HP:0001257	Spasticity	58497	PRUNE1	OMIM:617481
HP:0001257	Spasticity	58497	PRUNE1	ORPHA:544469
HP:0001257	Spasticity	221692	PHACTR1	OMIM:618298
HP:0001257	Spasticity	3785	KCNQ2	OMIM:613720
HP:0001257	Spasticity	54808	DYM	ORPHA:239
HP:0001257	Spasticity	9361	LONP1	OMIM:600373
HP:0001257	Spasticity	4524	MTHFR	ORPHA:395
HP:0001257	Spasticity	340533	NEXMIF	OMIM:300912
HP:0001257	Spasticity	1183	CLCN4	OMIM:300114
HP:0001257	Spasticity	1183	CLCN4	ORPHA:485350
HP:0001257	Spasticity	1355	COX15	OMIM:615119
HP:0001257	Spasticity	23314	SATB2	ORPHA:251028
HP:0001257	Spasticity	775	CACNA1C	OMIM:620029
HP:0001257	Spasticity	1161	ERCC8	ORPHA:90321
HP:0001257	Spasticity	1161	ERCC8	ORPHA:90322
HP:0001257	Spasticity	2067	ERCC1	ORPHA:90322
HP:0001257	Spasticity	81790	RNF170	OMIM:619686
HP:0001257	Spasticity	5917	RARS1	ORPHA:438114
HP:0001257	Spasticity	5917	RARS1	OMIM:616140
HP:0001257	Spasticity	27102	EIF2AK1	OMIM:618878
HP:0001257	Spasticity	816	CAMK2B	OMIM:617799
HP:0001257	Spasticity	51079	NDUFA13	OMIM:618249
HP:0001257	Spasticity	9675	TTI1	OMIM:620445
HP:0001257	Spasticity	4361	MRE11	OMIM:604391
HP:0001257	Spasticity	112476	PRRT2	ORPHA:98811
HP:0001257	Spasticity	9256	TSPOAP1	OMIM:620453
HP:0001257	Spasticity	9354	UBE4A	OMIM:619639
HP:0001257	Spasticity	79759	ZNF668	OMIM:620194
HP:0001257	Spasticity	79796	ALG9	ORPHA:79328
HP:0001257	Spasticity	25814	ATXN10	ORPHA:98761
HP:0001257	Spasticity	57459	GATAD2B	ORPHA:363686
HP:0001257	Spasticity	9338	TCEAL1	OMIM:301094
HP:0001257	Spasticity	2593	GAMT	OMIM:612736
HP:0001257	Spasticity	60	ACTB	OMIM:620475
HP:0001257	Spasticity	10667	FARS2	ORPHA:466722
HP:0001257	Spasticity	23299	BICD2	OMIM:615290
HP:0001257	Spasticity	339855	KY	ORPHA:496689
HP:0001257	Spasticity	131118	DNAJC19	ORPHA:66634
HP:0001257	Spasticity	200403	VWA3B	OMIM:616948
HP:0001257	Spasticity	85021	REPS1	OMIM:617916
HP:0001257	Spasticity	27072	VPS41	OMIM:619389
HP:0001257	Spasticity	84274	COQ5	OMIM:619028
HP:0001257	Spasticity	51763	INPP5K	OMIM:617404
HP:0001257	Spasticity	8625	RFXANK	OMIM:620815
HP:0001257	Spasticity	51062	ATL1	ORPHA:100984
HP:0001257	Spasticity	51062	ATL1	OMIM:182600
HP:0001257	Spasticity	9897	WASHC5	ORPHA:100989
HP:0001257	Spasticity	9897	WASHC5	OMIM:603563
HP:0001257	Spasticity	324	APC	ORPHA:261584
HP:0001257	Spasticity	123606	NIPA1	OMIM:600363
HP:0001257	Spasticity	57156	TMEM63C	OMIM:619966
HP:0001257	Spasticity	9197	SLC33A1	OMIM:612539
HP:0001257	Spasticity	9197	SLC33A1	ORPHA:171863
HP:0001257	Spasticity	51204	TACO1	OMIM:619052
HP:0001257	Spasticity	65055	REEP1	ORPHA:101011
HP:0001257	Spasticity	65055	REEP1	OMIM:610250
HP:0001257	Spasticity	11145	PLAAT3	OMIM:620683
HP:0001257	Spasticity	25778	DSTYK	ORPHA:101003
HP:0001257	Spasticity	9420	CYP7B1	OMIM:270800
HP:0001257	Spasticity	57599	WDR48	ORPHA:401800
HP:0001257	Spasticity	80821	DDHD1	ORPHA:101008
HP:0001257	Spasticity	9907	AP5Z1	OMIM:613647
HP:0001257	Spasticity	9907	AP5Z1	ORPHA:306511
HP:0001257	Spasticity	9895	TECPR2	OMIM:615031
HP:0001257	Spasticity	340075	ARSI	ORPHA:401815
HP:0001257	Spasticity	57498	KIDINS220	OMIM:617296
HP:0001257	Spasticity	84879	MFSD2A	OMIM:616486
HP:0001257	Spasticity	80232	WDR26	OMIM:617616
HP:0001257	Spasticity	22978	NT5C2	ORPHA:320396
HP:0001257	Spasticity	22978	NT5C2	OMIM:613162
HP:0001257	Spasticity	6472	SHMT2	OMIM:619121
HP:0001257	Spasticity	6253	RTN2	OMIM:604805
HP:0001257	Spasticity	6253	RTN2	ORPHA:100993
HP:0001257	Spasticity	79971	WLS	OMIM:619648
HP:0001257	Spasticity	9101	USP8	ORPHA:401795
HP:0001257	Spasticity	3739	KCNA4	OMIM:618284
HP:0001257	Spasticity	3329	HSPD1	OMIM:605280
HP:0001257	Spasticity	3329	HSPD1	ORPHA:100994
HP:0001257	Spasticity	383	ARG1	OMIM:207800
HP:0001257	Spasticity	23259	DDHD2	ORPHA:320380
HP:0001257	Spasticity	6843	VAMP1	ORPHA:251282
HP:0001257	Spasticity	51663	ZFR	ORPHA:401840
HP:0001257	Spasticity	51271	UBAP1	ORPHA:100993
HP:0001257	Spasticity	126129	CPT1C	ORPHA:444099
HP:0001257	Spasticity	3839	KPNA3	ORPHA:171612
HP:0001257	Spasticity	113612	CYP2U1	ORPHA:320411
HP:0001257	Spasticity	171546	SPTSSA	OMIM:620416
HP:0001257	Spasticity	2583	B4GALNT1	OMIM:609195
HP:0001257	Spasticity	10664	CTCF	OMIM:615502
HP:0001257	Spasticity	57165	GJC2	OMIM:613206
HP:0001257	Spasticity	3798	KIF5A	OMIM:604187
HP:0001257	Spasticity	2137	EXTL3	ORPHA:508533
HP:0001257	Spasticity	2137	EXTL3	OMIM:617425
HP:0001257	Spasticity	4702	NDUFA8	OMIM:619272
HP:0001257	Spasticity	3763	KCNJ6	ORPHA:435628
HP:0001257	Spasticity	3763	KCNJ6	OMIM:614098
HP:0001257	Spasticity	4337	MOCS1	OMIM:252150
HP:0001257	Spasticity	54820	NDE1	ORPHA:2177
HP:0001257	Spasticity	80704	SLC19A3	OMIM:607483
HP:0001257	Spasticity	10280	SIGMAR1	ORPHA:300605
HP:0001257	Spasticity	10558	SPTLC1	ORPHA:300605
HP:0001257	Spasticity	55610	VPS50	OMIM:619685
HP:0001257	Spasticity	440138	ALG11	ORPHA:280071
HP:0001257	Spasticity	440138	ALG11	OMIM:613661
HP:0001257	Spasticity	10157	AASS	ORPHA:2203
HP:0001257	Spasticity	259266	ASPM	OMIM:608716
HP:0001257	Spasticity	5048	PAFAH1B1	ORPHA:95232
HP:0001257	Spasticity	2639	GCDH	OMIM:231670
HP:0001257	Spasticity	5805	PTS	ORPHA:13
HP:0001257	Spasticity	2898	GRIK2	OMIM:619580
HP:0001257	Spasticity	27247	NFU1	OMIM:605711
HP:0001257	Spasticity	79587	CARS2	OMIM:616672
HP:0001257	Spasticity	5332	PLCB4	OMIM:620458
HP:0001257	Spasticity	4338	MOCS2	OMIM:252160
HP:0001257	Spasticity	594	BCKDHB	OMIM:620698
HP:0001257	Spasticity	1629	DBT	OMIM:620699
HP:0001257	Spasticity	9244	CRLF1	OMIM:272430
HP:0001257	Spasticity	9900	SV2A	OMIM:620772
HP:0001257	Spasticity	85465	SELENOI	ORPHA:506353
HP:0001257	Spasticity	6197	RPS6KA3	ORPHA:192
HP:0001257	Spasticity	129685	TAF8	OMIM:619972
HP:0001257	Spasticity	10943	MSL3	OMIM:301032
HP:0001257	Spasticity	57688	ZSWIM6	OMIM:617865
HP:0001257	Spasticity	84265	POLR3GL	OMIM:619234
HP:0001257	Spasticity	55532	SLC30A10	ORPHA:309854
HP:0001257	Spasticity	55532	SLC30A10	OMIM:613280
HP:0001257	Spasticity	54902	TTC19	OMIM:615157
HP:0001257	Spasticity	3425	IDUA	ORPHA:93474
HP:0001257	Spasticity	3425	IDUA	ORPHA:93473
HP:0001257	Spasticity	440193	CCDC88C	OMIM:616053
HP:0001257	Spasticity	440193	CCDC88C	ORPHA:423275
HP:0001257	Spasticity	3145	HMBS	OMIM:620711
HP:0001257	Spasticity	1910	EDNRB	OMIM:277580
HP:0001257	Spasticity	11152	WDR45	ORPHA:329284
HP:0001257	Spasticity	11152	WDR45	OMIM:300894
HP:0001257	Spasticity	93587	TRMT10A	ORPHA:391408
HP:0001257	Spasticity	55149	MTPAP	OMIM:613672
HP:0001257	Spasticity	55149	MTPAP	ORPHA:254343
HP:0001257	Spasticity	686	BTD	ORPHA:79241
HP:0001257	Spasticity	23389	MED13L	ORPHA:369891
HP:0001257	Spasticity	87178	PNPT1	ORPHA:101111
HP:0001257	Spasticity	4137	MAPT	ORPHA:240094
HP:0001257	Spasticity	55775	TDP1	ORPHA:94124
HP:0001257	Spasticity	2705	GJB1	ORPHA:1175
HP:0001257	Spasticity	492	ATP2B3	ORPHA:314978
HP:0001257	Spasticity	2760	GM2A	ORPHA:309246
HP:0001257	Spasticity	79152	FA2H	ORPHA:329308
HP:0001257	Spasticity	9373	PLAA	ORPHA:521426
HP:0001257	Spasticity	6329	SCN4A	ORPHA:99734
HP:0001257	Spasticity	8496	PPFIBP1	OMIM:620024
HP:0001257	Spasticity	56945	MRPS22	OMIM:611719
HP:0001257	Spasticity	80347	COASY	OMIM:615643
HP:0001257	Spasticity	29078	NDUFAF4	OMIM:618237
HP:0001257	Spasticity	79709	COLGALT1	OMIM:618360
HP:0001257	Spasticity	3735	KARS1	ORPHA:3240
HP:0001257	Spasticity	3735	KARS1	OMIM:619147
HP:0001257	Spasticity	535	ATP6V0A1	OMIM:619971
HP:0001257	Spasticity	22796	COG2	OMIM:617395
HP:0001257	Spasticity	22796	COG2	ORPHA:435934
HP:0001257	Spasticity	100131801	PET100	OMIM:619055
HP:0001257	Spasticity	7283	TUBG1	OMIM:615412
HP:0001257	Spasticity	10352	WARS2	OMIM:617710
HP:0001257	Spasticity	10352	WARS2	ORPHA:572798
HP:0001257	Spasticity	1778	DYNC1H1	OMIM:614563
HP:0001257	Spasticity	3796	KIF2A	OMIM:615411
HP:0001257	Spasticity	123263	MTFMT	OMIM:618248
HP:0001257	Spasticity	170825	GSX2	OMIM:618646
HP:0001257	Spasticity	259232	NALCN	OMIM:615419
HP:0001257	Spasticity	259232	NALCN	ORPHA:371364
HP:0001257	Spasticity	22872	SEC31A	OMIM:618651
HP:0001257	Spasticity	1193	CLIC2	ORPHA:324410
HP:0001257	Spasticity	59336	PRDM13	OMIM:619909
HP:0001257	Spasticity	1267	CNP	OMIM:619071
HP:0001257	Spasticity	11019	LIAS	OMIM:614462
HP:0001257	Spasticity	5700	PSMC1	OMIM:620071
HP:0001257	Spasticity	3800	KIF5C	OMIM:615282
HP:0001257	Spasticity	10297	APC2	OMIM:618677
HP:0001257	Spasticity	55164	SHQ1	OMIM:619922
HP:0001257	Spasticity	55739	NAXD	OMIM:618321
HP:0001257	Spasticity	440	ASNS	OMIM:615574
HP:0001257	Spasticity	777	CACNA1E	OMIM:618285
HP:0001257	Spasticity	200205	IBA57	OMIM:615330
HP:0001257	Spasticity	1284	COL4A2	OMIM:614483
HP:0001257	Spasticity	2806	GOT2	OMIM:618721
HP:0001257	Spasticity	51294	PCDH12	OMIM:251280
HP:0001257	Spasticity	23189	KANK1	OMIM:612900
HP:0001257	Spasticity	2055	CLN8	ORPHA:1947
HP:0001257	Spasticity	57192	MCOLN1	OMIM:252650
HP:0001257	Spasticity	28962	OSTM1	OMIM:259720
HP:0001257	Spasticity	51645	PPIL1	OMIM:619301
HP:0001257	Spasticity	51362	CDC40	OMIM:619302
HP:0001257	Spasticity	51075	TMX2	OMIM:618730
HP:0001257	Spasticity	1496	CTNNA2	OMIM:618174
HP:0001257	Spasticity	55770	EXOC2	OMIM:619306
HP:0001257	Spasticity	10695	CNPY3	OMIM:617929
HP:0001257	Spasticity	23769	FLRT1	ORPHA:320406
HP:0001257	Spasticity	197258	FCSK	OMIM:618324
HP:0001257	Spasticity	160418	TMTC3	OMIM:617255
HP:0001257	Spasticity	9255	AIMP1	OMIM:260600
HP:0001257	Spasticity	57282	SLC4A10	OMIM:620746
HP:0001257	Spasticity	819	CAMLG	OMIM:620201
HP:0001257	Spasticity	84081	NSRP1	OMIM:620001
HP:0001257	Spasticity	823	CAPN1	OMIM:616907
HP:0001257	Spasticity	51611	DPH5	OMIM:620070
HP:0001257	Spasticity	55331	ACER3	OMIM:617762
HP:0001257	Spasticity	1822	ATN1	OMIM:618494
HP:0001257	Spasticity	54676	GTPBP2	OMIM:617988
HP:0001257	Spasticity	79736	TEFM	OMIM:620451
HP:0001257	Spasticity	283450	HECTD4	OMIM:620250
HP:0001259	Coma	1374	CPT1A	ORPHA:156
HP:0001259	Coma	1374	CPT1A	OMIM:255120
HP:0001259	Coma	4594	MMUT	ORPHA:289916
HP:0001259	Coma	4594	MMUT	OMIM:251000
HP:0001259	Coma	4594	MMUT	ORPHA:79312
HP:0001259	Coma	3155	HMGCL	ORPHA:20
HP:0001259	Coma	3155	HMGCL	OMIM:246450
HP:0001259	Coma	229	ALDOB	OMIM:229600
HP:0001259	Coma	229	ALDOB	ORPHA:469
HP:0001259	Coma	51728	POLR3K	OMIM:619310
HP:0001259	Coma	5009	OTC	OMIM:311250
HP:0001259	Coma	5009	OTC	ORPHA:664
HP:0001259	Coma	2653	GCSH	OMIM:620423
HP:0001259	Coma	5551	PRF1	ORPHA:540
HP:0001259	Coma	5551	PRF1	OMIM:603553
HP:0001259	Coma	8676	STX11	ORPHA:540
HP:0001259	Coma	201294	UNC13D	ORPHA:540
HP:0001259	Coma	6813	STXBP2	ORPHA:540
HP:0001259	Coma	3712	IVD	ORPHA:33
HP:0001259	Coma	3712	IVD	OMIM:243500
HP:0001259	Coma	4695	NDUFA2	OMIM:618235
HP:0001259	Coma	351	APP	ORPHA:324713
HP:0001259	Coma	351	APP	ORPHA:324703
HP:0001259	Coma	549	AUH	ORPHA:67046
HP:0001259	Coma	3141	HLCS	OMIM:253270
HP:0001259	Coma	3141	HLCS	ORPHA:79242
HP:0001259	Coma	8893	EIF2B5	OMIM:620315
HP:0001259	Coma	6833	ABCC8	OMIM:240800
HP:0001259	Coma	6833	ABCC8	ORPHA:99885
HP:0001259	Coma	3767	KCNJ11	ORPHA:99885
HP:0001259	Coma	6774	STAT3	ORPHA:99885
HP:0001259	Coma	2645	GCK	ORPHA:99885
HP:0001259	Coma	2645	GCK	ORPHA:79299
HP:0001259	Coma	3651	PDX1	ORPHA:99885
HP:0001259	Coma	3630	INS	ORPHA:99885
HP:0001259	Coma	2710	GK	OMIM:307030
HP:0001259	Coma	10166	SLC25A15	ORPHA:415
HP:0001259	Coma	10166	SLC25A15	OMIM:238970
HP:0001259	Coma	10165	SLC25A13	OMIM:603471
HP:0001259	Coma	10165	SLC25A13	ORPHA:247585
HP:0001259	Coma	34	ACADM	OMIM:201450
HP:0001259	Coma	34	ACADM	ORPHA:42
HP:0001259	Coma	64087	MCCC2	OMIM:210210
HP:0001259	Coma	5428	POLG	ORPHA:726
HP:0001259	Coma	773	CACNA1A	ORPHA:569
HP:0001259	Coma	773	CACNA1A	OMIM:141500
HP:0001259	Coma	112476	PRRT2	ORPHA:569
HP:0001259	Coma	6323	SCN1A	ORPHA:569
HP:0001259	Coma	477	ATP1A2	ORPHA:569
HP:0001259	Coma	477	ATP1A2	OMIM:602481
HP:0001259	Coma	5095	PCCA	OMIM:606054
HP:0001259	Coma	5096	PCCB	OMIM:606054
HP:0001259	Coma	9056	SLC7A7	OMIM:222700
HP:0001259	Coma	9056	SLC7A7	ORPHA:470
HP:0001259	Coma	3158	HMGCS2	OMIM:605911
HP:0001259	Coma	3643	INSR	ORPHA:263458
HP:0001259	Coma	3172	HNF4A	ORPHA:263455
HP:0001259	Coma	5903	RANBP2	ORPHA:88619
HP:0001259	Coma	5903	RANBP2	OMIM:608033
HP:0001259	Coma	58472	SQOR	OMIM:619221
HP:0001259	Coma	1376	CPT2	OMIM:614212
HP:0001259	Coma	1376	CPT2	ORPHA:228308
HP:0001259	Coma	56922	MCCC1	OMIM:210200
HP:0001259	Coma	128989	TANGO2	OMIM:616878
HP:0001259	Coma	5498	PPOX	ORPHA:79473
HP:0001259	Coma	326625	MMAB	OMIM:251110
HP:0001259	Coma	788	SLC25A20	ORPHA:159
HP:0001259	Coma	788	SLC25A20	OMIM:212138
HP:0001259	Coma	1499	CTNNB1	ORPHA:54595
HP:0001259	Coma	673	BRAF	ORPHA:54595
HP:0001259	Coma	4158	MC2R	OMIM:202200
HP:0001259	Coma	593	BCKDHA	OMIM:248600
HP:0001259	Coma	10068	IL18BP	OMIM:618549
HP:0001259	Coma	54902	TTC19	OMIM:615157
HP:0001259	Coma	435	ASL	OMIM:207900
HP:0001259	Coma	90624	LYRM7	OMIM:615838
HP:0001259	Coma	3032	HADHB	ORPHA:746
HP:0001259	Coma	3030	HADHA	ORPHA:746
HP:0001259	Coma	4221	MEN1	ORPHA:97279
HP:0001259	Coma	4221	MEN1	ORPHA:652
HP:0001259	Coma	7528	YY1	ORPHA:97279
HP:0001259	Coma	80704	SLC19A3	OMIM:607483
HP:0001259	Coma	2203	FBP1	ORPHA:348
HP:0001259	Coma	2203	FBP1	OMIM:229700
HP:0001259	Coma	166785	MMAA	OMIM:251100
HP:0001259	Coma	162417	NAGS	OMIM:237310
HP:0001259	Coma	162417	NAGS	ORPHA:927
HP:0001259	Coma	128240	NAXE	OMIM:617186
HP:0001259	Coma	540	ATP7B	OMIM:277900
HP:0001259	Coma	6663	SOX10	OMIM:609136
HP:0001259	Coma	38	ACAT1	ORPHA:134
HP:0001259	Coma	1027	CDKN1B	ORPHA:652
HP:0001259	Coma	1026	CDKN1A	ORPHA:652
HP:0001259	Coma	1030	CDKN2B	ORPHA:652
HP:0001259	Coma	1031	CDKN2C	ORPHA:652
HP:0001259	Coma	1537	CYC1	OMIM:615453
HP:0001259	Coma	4724	NDUFS4	OMIM:252010
HP:0001259	Coma	445	ASS1	OMIM:215700
HP:0001259	Coma	1373	CPS1	OMIM:237300
HP:0001259	Coma	8942	KYNU	ORPHA:79155
HP:0001259	Coma	3145	HMBS	ORPHA:79276
HP:0001259	Coma	10878	CFHR3	OMIM:235400
HP:0001259	Coma	3075	CFH	OMIM:235400
HP:0001259	Coma	3078	CFHR1	OMIM:235400
HP:0001259	Coma	7187	TRAF3	ORPHA:1930
HP:0001259	Coma	81622	UNC93B1	ORPHA:1930
HP:0001259	Coma	148022	TICAM1	ORPHA:1930
HP:0001259	Coma	7098	TLR3	ORPHA:1930
HP:0001259	Coma	29110	TBK1	ORPHA:1930
HP:0001259	Coma	6584	SLC22A5	OMIM:212140
HP:0001259	Coma	56246	MRAP	ORPHA:361
HP:0001259	Coma	6770	STAR	ORPHA:361
HP:0001259	Coma	23530	NNT	ORPHA:361
HP:0001259	Coma	23530	NNT	OMIM:614736
HP:0001259	Coma	10587	TXNRD2	ORPHA:361
HP:0001259	Coma	4791	NFKB2	ORPHA:293978
HP:0001259	Coma	6927	HNF1A	ORPHA:324575
HP:0001259	Coma	7351	UCP2	ORPHA:276556
HP:0001259	Coma	208	AKT2	ORPHA:293964
HP:0001259	Coma	3033	HADH	OMIM:609975
HP:0001259	Coma	2746	GLUD1	OMIM:606762
HP:0001259	Coma	2110	ETFDH	OMIM:231680
HP:0001259	Coma	2108	ETFA	OMIM:231680
HP:0001259	Coma	2109	ETFB	OMIM:231680
HP:0004484	Craniofacial asymmetry	4094	MAF	OMIM:601088
HP:0004484	Craniofacial asymmetry	7468	NSD2	OMIM:194190
HP:0004484	Craniofacial asymmetry	10815	CPLX1	OMIM:194190
HP:0004484	Craniofacial asymmetry	1487	CTBP1	OMIM:194190
HP:0004484	Craniofacial asymmetry	53834	FGFRL1	OMIM:194190
HP:0004484	Craniofacial asymmetry	3954	LETM1	OMIM:194190
HP:0004474	Persistent open anterior fontanelle	1513	CTSK	ORPHA:763
HP:0004474	Persistent open anterior fontanelle	1513	CTSK	OMIM:265800
HP:0004474	Persistent open anterior fontanelle	5828	PEX2	OMIM:614866
HP:0004474	Persistent open anterior fontanelle	29123	ANKRD11	ORPHA:2332
HP:0004474	Persistent open anterior fontanelle	54543	TOMM7	OMIM:620601
HP:0004474	Persistent open anterior fontanelle	860	RUNX2	OMIM:119600
HP:0004474	Persistent open anterior fontanelle	2688	GH1	OMIM:262400
HP:0004474	Persistent open anterior fontanelle	538	ATP7A	OMIM:304150
HP:0004474	Persistent open anterior fontanelle	29940	DSE	OMIM:615539
HP:0004482	Relative macrocephaly	1718	DHCR24	OMIM:602398
HP:0004482	Relative macrocephaly	9791	PTDSS1	OMIM:151050
HP:0004482	Relative macrocephaly	8450	CUL4B	OMIM:300354
HP:0004482	Relative macrocephaly	2245	FGD1	OMIM:305400
HP:0004482	Relative macrocephaly	8036	SHOC2	OMIM:607721
HP:0004482	Relative macrocephaly	7874	USP7	ORPHA:500055
HP:0004482	Relative macrocephaly	324	APC	ORPHA:261584
HP:0004482	Relative macrocephaly	28981	IFT81	OMIM:617895
HP:0004482	Relative macrocephaly	8216	LZTR1	OMIM:616564
HP:0004482	Relative macrocephaly	8216	LZTR1	OMIM:605275
HP:0004482	Relative macrocephaly	3481	IGF2	OMIM:616489
HP:0004482	Relative macrocephaly	3481	IGF2	ORPHA:231140
HP:0004482	Relative macrocephaly	3481	IGF2	ORPHA:231144
HP:0004482	Relative macrocephaly	3481	IGF2	ORPHA:397590
HP:0004482	Relative macrocephaly	6016	RIT1	OMIM:615355
HP:0004482	Relative macrocephaly	23314	SATB2	ORPHA:251028
HP:0004482	Relative macrocephaly	673	BRAF	OMIM:115150
HP:0004482	Relative macrocephaly	23363	OBSL1	OMIM:612921
HP:0004482	Relative macrocephaly	3845	KRAS	OMIM:609942
HP:0004482	Relative macrocephaly	4796	TONSL	ORPHA:93357
HP:0004482	Relative macrocephaly	4796	TONSL	OMIM:271510
HP:0004482	Relative macrocephaly	8091	HMGA2	OMIM:618908
HP:0004482	Relative macrocephaly	8091	HMGA2	ORPHA:397590
HP:0004482	Relative macrocephaly	2887	GRB10	ORPHA:96182
HP:0004482	Relative macrocephaly	4000	LMNA	ORPHA:740
HP:0004482	Relative macrocephaly	10269	ZMPSTE24	ORPHA:740
HP:0004482	Relative macrocephaly	283120	H19	ORPHA:231140
HP:0004482	Relative macrocephaly	283120	H19	ORPHA:231144
HP:0004482	Relative macrocephaly	3636	INPPL1	OMIM:258480
HP:0004482	Relative macrocephaly	9321	TRIP11	OMIM:184260
HP:0004482	Relative macrocephaly	4841	NONO	OMIM:300967
HP:0004482	Relative macrocephaly	4841	NONO	ORPHA:466791
HP:0004482	Relative macrocephaly	388015	RTL1	ORPHA:254525
HP:0004482	Relative macrocephaly	8788	DLK1	ORPHA:254525
HP:0004482	Relative macrocephaly	55384	MEG3	ORPHA:254525
HP:0004482	Relative macrocephaly	6651	SON	OMIM:617140
HP:0004482	Relative macrocephaly	6651	SON	ORPHA:500150
HP:0004482	Relative macrocephaly	83737	ITCH	OMIM:613385
HP:0004482	Relative macrocephaly	83737	ITCH	ORPHA:228426
HP:0004482	Relative macrocephaly	28952	CCDC22	OMIM:300963
HP:0004482	Relative macrocephaly	1028	CDKN1C	ORPHA:397590
HP:0004482	Relative macrocephaly	5324	PLAG1	ORPHA:397590
HP:0004482	Relative macrocephaly	8239	USP9X	OMIM:300919
HP:0004482	Relative macrocephaly	5500	PPP1CB	OMIM:617506
HP:0004482	Relative macrocephaly	4763	NF1	OMIM:193520
HP:0004482	Relative macrocephaly	8312	AXIN1	OMIM:620558
HP:0004482	Relative macrocephaly	6662	SOX9	OMIM:114290
HP:0004482	Relative macrocephaly	176	ACAN	ORPHA:171866
HP:0004482	Relative macrocephaly	176	ACAN	OMIM:612813
HP:0004482	Relative macrocephaly	4286	MITF	OMIM:617306
HP:0004482	Relative macrocephaly	9968	MED12	OMIM:305450
HP:0004482	Relative macrocephaly	25885	POLR1A	OMIM:620675
HP:0004482	Relative macrocephaly	3911	LAMA5	OMIM:620076
HP:0004482	Relative macrocephaly	11128	POLR3A	ORPHA:3455
HP:0004482	Relative macrocephaly	57231	SNX14	ORPHA:397709
HP:0004482	Relative macrocephaly	57231	SNX14	OMIM:616354
HP:0004482	Relative macrocephaly	2271	FH	OMIM:606812
HP:0004482	Relative macrocephaly	57020	VPS35L	OMIM:619135
HP:0004482	Relative macrocephaly	10940	POP1	OMIM:617396
HP:0004482	Relative macrocephaly	153241	CEP120	OMIM:616300
HP:0004482	Relative macrocephaly	64359	NXN	OMIM:618529
HP:0004482	Relative macrocephaly	5426	POLE	OMIM:615139
HP:0004482	Relative macrocephaly	5426	POLE	OMIM:618336
HP:0004482	Relative macrocephaly	64131	XYLT1	OMIM:615777
HP:0004482	Relative macrocephaly	64131	XYLT1	ORPHA:370930
HP:0004482	Relative macrocephaly	1795	DOCK3	OMIM:618292
HP:0004482	Relative macrocephaly	4982	TNFRSF11B	OMIM:239000
HP:0004482	Relative macrocephaly	7703	PCGF2	OMIM:618371
HP:0004482	Relative macrocephaly	3549	IHH	OMIM:607778
HP:0004482	Relative macrocephaly	633	BGN	OMIM:300989
HP:0004482	Relative macrocephaly	22808	MRAS	OMIM:618499
HP:0004482	Relative macrocephaly	10297	APC2	OMIM:617169
HP:0004482	Relative macrocephaly	55331	ACER3	OMIM:617762
HP:0004482	Relative macrocephaly	7543	ZFX	OMIM:301118
HP:0004482	Relative macrocephaly	7067	THRA	OMIM:614450
HP:0004482	Relative macrocephaly	3930	LBR	OMIM:618019
HP:0004482	Relative macrocephaly	1974	EIF4A2	OMIM:620455
HP:0004482	Relative macrocephaly	871	SERPINH1	OMIM:613848
HP:0004482	Relative macrocephaly	1801	DPH1	ORPHA:459061
HP:0004482	Relative macrocephaly	1802	DPH2	ORPHA:459061
HP:0004481	Progressive macrocephaly	4724	NDUFS4	OMIM:252010
HP:0004481	Progressive macrocephaly	2670	GFAP	OMIM:203450
HP:0004481	Progressive macrocephaly	2670	GFAP	ORPHA:363717
HP:0004481	Progressive macrocephaly	2639	GCDH	ORPHA:25
HP:0004481	Progressive macrocephaly	5290	PIK3CA	OMIM:615108
HP:0004481	Progressive macrocephaly	5290	PIK3CA	OMIM:602501
HP:0004481	Progressive macrocephaly	207	AKT1	OMIM:615109
HP:0004481	Progressive macrocephaly	5728	PTEN	OMIM:158350
HP:0004481	Progressive macrocephaly	3074	HEXB	ORPHA:309155
HP:0000340	Sloping forehead	11113	CIT	OMIM:617090
HP:0000340	Sloping forehead	11113	CIT	ORPHA:2512
HP:0000340	Sloping forehead	27238	GPKOW	ORPHA:2570
HP:0000340	Sloping forehead	23141	ANKLE2	OMIM:616681
HP:0000340	Sloping forehead	23141	ANKLE2	ORPHA:2512
HP:0000340	Sloping forehead	10617	STAMBP	OMIM:614261
HP:0000340	Sloping forehead	6309	SC5D	ORPHA:46059
HP:0000340	Sloping forehead	23019	CNOT1	OMIM:618500
HP:0000340	Sloping forehead	23019	CNOT1	ORPHA:556955
HP:0000340	Sloping forehead	4683	NBN	OMIM:251260
HP:0000340	Sloping forehead	4683	NBN	ORPHA:647
HP:0000340	Sloping forehead	8425	LTBP4	OMIM:613177
HP:0000340	Sloping forehead	100151683	RNU4ATAC	OMIM:210710
HP:0000340	Sloping forehead	100151683	RNU4ATAC	OMIM:226960
HP:0000340	Sloping forehead	100151683	RNU4ATAC	ORPHA:2636
HP:0000340	Sloping forehead	54973	INTS11	OMIM:620428
HP:0000340	Sloping forehead	55627	SMPD4	OMIM:618622
HP:0000340	Sloping forehead	57122	NUP107	OMIM:618348
HP:0000340	Sloping forehead	57122	NUP107	OMIM:616730
HP:0000340	Sloping forehead	7360	UGP2	OMIM:618744
HP:0000340	Sloping forehead	84942	WDR73	OMIM:251300
HP:0000340	Sloping forehead	2737	GLI3	ORPHA:36
HP:0000340	Sloping forehead	374654	KIF7	ORPHA:36
HP:0000340	Sloping forehead	4784	NFIX	ORPHA:447980
HP:0000340	Sloping forehead	10733	PLK4	OMIM:616171
HP:0000340	Sloping forehead	10733	PLK4	ORPHA:2518
HP:0000340	Sloping forehead	1062	CENPE	OMIM:616051
HP:0000340	Sloping forehead	1062	CENPE	ORPHA:2512
HP:0000340	Sloping forehead	10300	KATNB1	OMIM:616212
HP:0000340	Sloping forehead	10300	KATNB1	ORPHA:89844
HP:0000340	Sloping forehead	80816	ASXL3	OMIM:615485
HP:0000340	Sloping forehead	5649	RELN	ORPHA:89844
HP:0000340	Sloping forehead	5649	RELN	OMIM:257320
HP:0000340	Sloping forehead	54820	NDE1	ORPHA:89844
HP:0000340	Sloping forehead	54820	NDE1	OMIM:605013
HP:0000340	Sloping forehead	5859	QARS1	OMIM:615760
HP:0000340	Sloping forehead	113179	ADAT3	ORPHA:363528
HP:0000340	Sloping forehead	51506	UFC1	OMIM:618076
HP:0000340	Sloping forehead	9662	CEP135	OMIM:614673
HP:0000340	Sloping forehead	9662	CEP135	ORPHA:2512
HP:0000340	Sloping forehead	7453	WARS1	OMIM:620317
HP:0000340	Sloping forehead	7453	WARS1	ORPHA:2512
HP:0000340	Sloping forehead	55033	FKBP14	OMIM:614557
HP:0000340	Sloping forehead	26128	KIFBP	ORPHA:66629
HP:0000340	Sloping forehead	57082	KNL1	OMIM:604321
HP:0000340	Sloping forehead	57082	KNL1	ORPHA:2512
HP:0000340	Sloping forehead	5053	PAH	ORPHA:2209
HP:0000340	Sloping forehead	29954	POMT2	OMIM:236670
HP:0000340	Sloping forehead	79147	FKRP	OMIM:236670
HP:0000340	Sloping forehead	2218	FKTN	OMIM:236670
HP:0000340	Sloping forehead	10585	POMT1	OMIM:236670
HP:0000340	Sloping forehead	9215	LARGE1	OMIM:236670
HP:0000340	Sloping forehead	79840	NHEJ1	ORPHA:169079
HP:0000340	Sloping forehead	5932	RBBP8	OMIM:251255
HP:0000340	Sloping forehead	284403	WDR62	OMIM:604317
HP:0000340	Sloping forehead	284403	WDR62	ORPHA:2512
HP:0000340	Sloping forehead	25839	COG4	ORPHA:263501
HP:0000340	Sloping forehead	10735	STAG2	OMIM:301022
HP:0000340	Sloping forehead	56915	EXOSC5	OMIM:619576
HP:0000340	Sloping forehead	63925	ZNF335	OMIM:615095
HP:0000340	Sloping forehead	9698	PUM1	OMIM:620719
HP:0000340	Sloping forehead	27341	RRP7A	OMIM:619453
HP:0000340	Sloping forehead	816	CAMK2B	OMIM:617799
HP:0000340	Sloping forehead	80746	TSEN2	OMIM:612389
HP:0000340	Sloping forehead	80746	TSEN2	ORPHA:2524
HP:0000340	Sloping forehead	93627	TBCK	OMIM:616900
HP:0000340	Sloping forehead	93627	TBCK	ORPHA:488632
HP:0000340	Sloping forehead	1509	CTSD	OMIM:610127
HP:0000340	Sloping forehead	672	BRCA1	ORPHA:84
HP:0000340	Sloping forehead	10459	MAD2L2	ORPHA:84
HP:0000340	Sloping forehead	7516	XRCC2	ORPHA:84
HP:0000340	Sloping forehead	29089	UBE2T	ORPHA:84
HP:0000340	Sloping forehead	675	BRCA2	ORPHA:84
HP:0000340	Sloping forehead	55120	FANCL	ORPHA:84
HP:0000340	Sloping forehead	2177	FANCD2	ORPHA:84
HP:0000340	Sloping forehead	2175	FANCA	ORPHA:84
HP:0000340	Sloping forehead	2187	FANCB	ORPHA:84
HP:0000340	Sloping forehead	2176	FANCC	ORPHA:84
HP:0000340	Sloping forehead	2178	FANCE	ORPHA:84
HP:0000340	Sloping forehead	2188	FANCF	ORPHA:84
HP:0000340	Sloping forehead	2189	FANCG	ORPHA:84
HP:0000340	Sloping forehead	5888	RAD51	ORPHA:84
HP:0000340	Sloping forehead	5889	RAD51C	ORPHA:84
HP:0000340	Sloping forehead	55159	RFWD3	ORPHA:84
HP:0000340	Sloping forehead	83990	BRIP1	ORPHA:84
HP:0000340	Sloping forehead	57697	FANCM	ORPHA:84
HP:0000340	Sloping forehead	79728	PALB2	ORPHA:84
HP:0000340	Sloping forehead	84464	SLX4	ORPHA:84
HP:0000340	Sloping forehead	2072	ERCC4	ORPHA:84
HP:0000340	Sloping forehead	55215	FANCI	ORPHA:84
HP:0000340	Sloping forehead	6491	STIL	OMIM:612703
HP:0000340	Sloping forehead	6491	STIL	ORPHA:2512
HP:0000340	Sloping forehead	84314	TMEM107	ORPHA:564
HP:0000340	Sloping forehead	26123	TCTN3	ORPHA:564
HP:0000340	Sloping forehead	79867	TCTN2	ORPHA:564
HP:0000340	Sloping forehead	80776	B9D2	ORPHA:564
HP:0000340	Sloping forehead	79600	TCTN1	ORPHA:564
HP:0000340	Sloping forehead	57096	RPGRIP1	ORPHA:564
HP:0000340	Sloping forehead	79848	CSPP1	ORPHA:564
HP:0000340	Sloping forehead	80184	CEP290	ORPHA:564
HP:0000340	Sloping forehead	51259	TMEM216	ORPHA:564
HP:0000340	Sloping forehead	57545	CC2D2A	ORPHA:564
HP:0000340	Sloping forehead	79583	TMEM231	ORPHA:564
HP:0000340	Sloping forehead	91147	TMEM67	ORPHA:564
HP:0000340	Sloping forehead	79770	TXNDC15	ORPHA:564
HP:0000340	Sloping forehead	27077	B9D1	ORPHA:564
HP:0000340	Sloping forehead	23322	RPGRIP1L	ORPHA:564
HP:0000340	Sloping forehead	54903	MKS1	ORPHA:564
HP:0000340	Sloping forehead	54903	MKS1	OMIM:249000
HP:0000340	Sloping forehead	65062	TMEM237	ORPHA:564
HP:0000340	Sloping forehead	1781	DYNC1I2	OMIM:618492
HP:0000340	Sloping forehead	283989	TSEN54	ORPHA:166063
HP:0000340	Sloping forehead	283989	TSEN54	ORPHA:2524
HP:0000340	Sloping forehead	29968	PSAT1	ORPHA:284417
HP:0000340	Sloping forehead	29968	PSAT1	OMIM:616038
HP:0000340	Sloping forehead	9184	BUB3	ORPHA:1052
HP:0000340	Sloping forehead	699	BUB1	ORPHA:1052
HP:0000340	Sloping forehead	9702	CEP57	ORPHA:1052
HP:0000340	Sloping forehead	9319	TRIP13	ORPHA:1052
HP:0000340	Sloping forehead	701	BUB1B	ORPHA:1052
HP:0000340	Sloping forehead	26276	VPS33B	OMIM:208085
HP:0000340	Sloping forehead	80185	TTI2	OMIM:615541
HP:0000340	Sloping forehead	80185	TTI2	ORPHA:391307
HP:0000340	Sloping forehead	545	ATR	OMIM:210600
HP:0000340	Sloping forehead	860	RUNX2	ORPHA:1452
HP:0000340	Sloping forehead	63894	VIPAS39	OMIM:613404
HP:0000340	Sloping forehead	5116	PCNT	OMIM:210720
HP:0000340	Sloping forehead	26040	SETBP1	OMIM:269150
HP:0000340	Sloping forehead	26834	RNU4-2	OMIM:620851
HP:0000340	Sloping forehead	55644	OSGEP	OMIM:617729
HP:0000340	Sloping forehead	60386	SLC25A19	ORPHA:99742
HP:0000340	Sloping forehead	60386	SLC25A19	OMIM:607196
HP:0000340	Sloping forehead	26227	PHGDH	OMIM:256520
HP:0000340	Sloping forehead	2074	ERCC6	OMIM:214150
HP:0000340	Sloping forehead	3981	LIG4	ORPHA:235
HP:0000340	Sloping forehead	54888	NSUN2	ORPHA:235
HP:0000340	Sloping forehead	1021	CDK6	OMIM:616080
HP:0000340	Sloping forehead	1021	CDK6	ORPHA:2512
HP:0000340	Sloping forehead	80347	COASY	OMIM:618266
HP:0000340	Sloping forehead	3590	IL11RA	OMIM:614188
HP:0000340	Sloping forehead	5063	PAK3	OMIM:300558
HP:0000340	Sloping forehead	26005	C2CD3	ORPHA:434179
HP:0000340	Sloping forehead	116115	ZNF526	OMIM:619877
HP:0000340	Sloping forehead	25914	RTTN	ORPHA:468631
HP:0000340	Sloping forehead	10436	EMG1	ORPHA:1270
HP:0000340	Sloping forehead	9918	NCAPD2	OMIM:617983
HP:0000340	Sloping forehead	55755	CDK5RAP2	OMIM:604804
HP:0000340	Sloping forehead	55755	CDK5RAP2	ORPHA:2512
HP:0000340	Sloping forehead	56098	PCDHGC4	OMIM:619880
HP:0000340	Sloping forehead	4256	MGP	ORPHA:85202
HP:0000340	Sloping forehead	116461	TSEN15	ORPHA:2524
HP:0000340	Sloping forehead	79042	TSEN34	ORPHA:2524
HP:0000340	Sloping forehead	51091	SEPSECS	ORPHA:2524
HP:0000340	Sloping forehead	9928	KIF14	OMIM:616258
HP:0000340	Sloping forehead	9928	KIF14	OMIM:617914
HP:0000340	Sloping forehead	9928	KIF14	ORPHA:2512
HP:0000340	Sloping forehead	23397	NCAPH	OMIM:617985
HP:0000340	Sloping forehead	3832	KIF11	ORPHA:2526
HP:0000340	Sloping forehead	3832	KIF11	OMIM:152950
HP:0000340	Sloping forehead	55704	CCDC88A	OMIM:617507
HP:0000340	Sloping forehead	25973	PARS2	OMIM:618437
HP:0000340	Sloping forehead	100506658	OCLN	OMIM:251290
HP:0000340	Sloping forehead	79971	WLS	OMIM:619648
HP:0000340	Sloping forehead	22995	CEP152	OMIM:613823
HP:0000340	Sloping forehead	22995	CEP152	ORPHA:2512
HP:0000340	Sloping forehead	8241	RBM10	ORPHA:2886
HP:0000340	Sloping forehead	1376	CPT2	OMIM:608836
HP:0000340	Sloping forehead	259266	ASPM	OMIM:608716
HP:0000340	Sloping forehead	259266	ASPM	ORPHA:2512
HP:0000340	Sloping forehead	9320	TRIP12	OMIM:617752
HP:0000340	Sloping forehead	7518	XRCC4	OMIM:616541
HP:0000340	Sloping forehead	440	ASNS	OMIM:615574
HP:0000340	Sloping forehead	1663	DDX11	OMIM:613398
HP:0000340	Sloping forehead	85378	TUBGCP6	ORPHA:2518
HP:0000340	Sloping forehead	85378	TUBGCP6	OMIM:251270
HP:0000340	Sloping forehead	27229	TUBGCP4	ORPHA:2518
HP:0000340	Sloping forehead	85459	CEP295	OMIM:620767
HP:0000340	Sloping forehead	1968	EIF2S3	ORPHA:85282
HP:0000340	Sloping forehead	23522	KAT6B	ORPHA:3047
HP:0000340	Sloping forehead	9276	COPB2	ORPHA:2512
HP:0000340	Sloping forehead	55262	TRAPPC14	ORPHA:2512
HP:0000340	Sloping forehead	163786	SASS6	ORPHA:2512
HP:0000340	Sloping forehead	29920	PYCR2	ORPHA:2512
HP:0000340	Sloping forehead	84879	MFSD2A	ORPHA:2512
HP:0000340	Sloping forehead	4176	MCM7	ORPHA:2512
HP:0000340	Sloping forehead	80254	CEP63	ORPHA:2512
HP:0000340	Sloping forehead	29081	METTL5	ORPHA:2512
HP:0000340	Sloping forehead	79023	NUP37	ORPHA:2512
HP:0000340	Sloping forehead	23310	NCAPD3	ORPHA:2512
HP:0000340	Sloping forehead	6301	SARS1	ORPHA:2512
HP:0000340	Sloping forehead	79648	MCPH1	ORPHA:2512
HP:0000340	Sloping forehead	7109	TRAPPC10	ORPHA:2512
HP:0000340	Sloping forehead	1911	PHC1	ORPHA:2512
HP:0000340	Sloping forehead	6884	TAF13	ORPHA:2512
HP:0000340	Sloping forehead	23133	PHF8	OMIM:300263
HP:0000340	Sloping forehead	7546	ZIC2	OMIM:609637
HP:0000340	Sloping forehead	58497	PRUNE1	OMIM:617481
HP:0000340	Sloping forehead	55331	ACER3	OMIM:617762
HP:0000340	Sloping forehead	10844	TUBGCP2	OMIM:618737
HP:0000340	Sloping forehead	7407	VARS1	OMIM:617802
HP:0000340	Sloping forehead	55770	EXOC2	OMIM:619306
HP:0000340	Sloping forehead	78987	CRELD1	OMIM:620771
HP:0000340	Sloping forehead	6792	CDKL5	ORPHA:1934
HP:0000340	Sloping forehead	3736	KCNA1	ORPHA:1934
HP:0000340	Sloping forehead	9091	PIGQ	ORPHA:1934
HP:0000340	Sloping forehead	140679	SLC32A1	ORPHA:1934
HP:0000340	Sloping forehead	2775	GNAO1	ORPHA:1934
HP:0000340	Sloping forehead	81603	TRIM8	ORPHA:1934
HP:0000340	Sloping forehead	2902	GRIN1	ORPHA:1934
HP:0000340	Sloping forehead	79751	SLC25A22	ORPHA:1934
HP:0000340	Sloping forehead	150094	SIK1	ORPHA:1934
HP:0000340	Sloping forehead	8573	CASK	ORPHA:1934
HP:0000340	Sloping forehead	23312	DMXL2	ORPHA:1934
HP:0000340	Sloping forehead	2917	GRM7	ORPHA:1934
HP:0000340	Sloping forehead	170302	ARX	ORPHA:1934
HP:0000340	Sloping forehead	11284	PNKP	ORPHA:1934
HP:0000340	Sloping forehead	6326	SCN2A	ORPHA:1934
HP:0000340	Sloping forehead	51227	PIGP	ORPHA:1934
HP:0000340	Sloping forehead	6324	SCN1B	ORPHA:1934
HP:0000340	Sloping forehead	4761	NEUROD2	ORPHA:1934
HP:0004499	Chronic rhinitis due to narrow nasal airway	8600	TNFSF11	OMIM:259710
HP:0000426	Prominent nasal bridge	3476	IGBP1	OMIM:300472
HP:0000426	Prominent nasal bridge	3476	IGBP1	ORPHA:52055
HP:0000426	Prominent nasal bridge	10682	EBP	ORPHA:401973
HP:0000426	Prominent nasal bridge	10682	EBP	OMIM:300960
HP:0000426	Prominent nasal bridge	8243	SMC1A	OMIM:300590
HP:0000426	Prominent nasal bridge	25970	SH2B1	ORPHA:261222
HP:0000426	Prominent nasal bridge	10262	SF3B4	OMIM:154400
HP:0000426	Prominent nasal bridge	10262	SF3B4	ORPHA:1788
HP:0000426	Prominent nasal bridge	340533	NEXMIF	OMIM:300912
HP:0000426	Prominent nasal bridge	8294	H4C9	OMIM:619951
HP:0000426	Prominent nasal bridge	83932	SPRTN	OMIM:616200
HP:0000426	Prominent nasal bridge	26128	KIFBP	OMIM:609460
HP:0000426	Prominent nasal bridge	23135	KDM6B	OMIM:618505
HP:0000426	Prominent nasal bridge	10274	STAG1	ORPHA:502434
HP:0000426	Prominent nasal bridge	10274	STAG1	OMIM:617635
HP:0000426	Prominent nasal bridge	116931	MED12L	OMIM:618872
HP:0000426	Prominent nasal bridge	9578	CDC42BPB	OMIM:619841
HP:0000426	Prominent nasal bridge	613	BCR	ORPHA:261330
HP:0000426	Prominent nasal bridge	1399	CRKL	ORPHA:261330
HP:0000426	Prominent nasal bridge	5594	MAPK1	ORPHA:261330
HP:0000426	Prominent nasal bridge	80816	ASXL3	OMIM:615485
HP:0000426	Prominent nasal bridge	80816	ASXL3	ORPHA:352577
HP:0000426	Prominent nasal bridge	23322	RPGRIP1L	ORPHA:220497
HP:0000426	Prominent nasal bridge	23322	RPGRIP1L	ORPHA:1454
HP:0000426	Prominent nasal bridge	4867	NPHP1	ORPHA:220497
HP:0000426	Prominent nasal bridge	4867	NPHP1	ORPHA:110
HP:0000426	Prominent nasal bridge	65062	TMEM237	ORPHA:220497
HP:0000426	Prominent nasal bridge	65062	TMEM237	ORPHA:475
HP:0000426	Prominent nasal bridge	65062	TMEM237	OMIM:614424
HP:0000426	Prominent nasal bridge	65062	TMEM237	ORPHA:2318
HP:0000426	Prominent nasal bridge	72	ACTG2	ORPHA:2604
HP:0000426	Prominent nasal bridge	54806	AHI1	ORPHA:220493
HP:0000426	Prominent nasal bridge	54806	AHI1	ORPHA:475
HP:0000426	Prominent nasal bridge	56623	INPP5E	ORPHA:220493
HP:0000426	Prominent nasal bridge	56623	INPP5E	ORPHA:475
HP:0000426	Prominent nasal bridge	56623	INPP5E	ORPHA:1454
HP:0000426	Prominent nasal bridge	153241	CEP120	ORPHA:220493
HP:0000426	Prominent nasal bridge	153241	CEP120	ORPHA:475
HP:0000426	Prominent nasal bridge	54903	MKS1	ORPHA:220493
HP:0000426	Prominent nasal bridge	54903	MKS1	ORPHA:475
HP:0000426	Prominent nasal bridge	54903	MKS1	ORPHA:110
HP:0000426	Prominent nasal bridge	95681	CEP41	ORPHA:220493
HP:0000426	Prominent nasal bridge	95681	CEP41	ORPHA:475
HP:0000426	Prominent nasal bridge	23384	SPECC1L	ORPHA:1519
HP:0000426	Prominent nasal bridge	150468	CKAP2L	ORPHA:3255
HP:0000426	Prominent nasal bridge	84992	PIGY	ORPHA:247262
HP:0000426	Prominent nasal bridge	84720	PIGO	ORPHA:247262
HP:0000426	Prominent nasal bridge	93210	PGAP3	ORPHA:247262
HP:0000426	Prominent nasal bridge	284098	PIGW	ORPHA:247262
HP:0000426	Prominent nasal bridge	27315	PGAP2	ORPHA:247262
HP:0000426	Prominent nasal bridge	55650	PIGV	ORPHA:247262
HP:0000426	Prominent nasal bridge	9487	PIGL	ORPHA:247262
HP:0000426	Prominent nasal bridge	4001	LMNB1	OMIM:619179
HP:0000426	Prominent nasal bridge	170302	ARX	OMIM:300215
HP:0000426	Prominent nasal bridge	3190	HNRNPK	OMIM:616580
HP:0000426	Prominent nasal bridge	2590	GALNT2	OMIM:618885
HP:0000426	Prominent nasal bridge	284058	KANSL1	ORPHA:363958
HP:0000426	Prominent nasal bridge	284058	KANSL1	ORPHA:363965
HP:0000426	Prominent nasal bridge	284058	KANSL1	OMIM:610443
HP:0000426	Prominent nasal bridge	55870	ASH1L	OMIM:617796
HP:0000426	Prominent nasal bridge	9698	PUM1	OMIM:620719
HP:0000426	Prominent nasal bridge	80204	FBXO11	OMIM:618089
HP:0000426	Prominent nasal bridge	23522	KAT6B	OMIM:606170
HP:0000426	Prominent nasal bridge	23522	KAT6B	ORPHA:85201
HP:0000426	Prominent nasal bridge	54880	BCOR	ORPHA:2712
HP:0000426	Prominent nasal bridge	54880	BCOR	OMIM:300166
HP:0000426	Prominent nasal bridge	1889	ECE1	OMIM:613870
HP:0000426	Prominent nasal bridge	56172	ANKH	OMIM:123000
HP:0000426	Prominent nasal bridge	7994	KAT6A	ORPHA:457193
HP:0000426	Prominent nasal bridge	7994	KAT6A	OMIM:616268
HP:0000426	Prominent nasal bridge	54543	TOMM7	OMIM:620601
HP:0000426	Prominent nasal bridge	93627	TBCK	OMIM:616900
HP:0000426	Prominent nasal bridge	157680	VPS13B	OMIM:216550
HP:0000426	Prominent nasal bridge	157680	VPS13B	ORPHA:193
HP:0000426	Prominent nasal bridge	2626	GATA4	ORPHA:251071
HP:0000426	Prominent nasal bridge	222663	SCUBE3	OMIM:619184
HP:0000426	Prominent nasal bridge	9401	RECQL4	OMIM:218600
HP:0000426	Prominent nasal bridge	9401	RECQL4	ORPHA:1225
HP:0000426	Prominent nasal bridge	10484	SEC23A	OMIM:607812
HP:0000426	Prominent nasal bridge	10484	SEC23A	ORPHA:50814
HP:0000426	Prominent nasal bridge	1327	COX4I1	OMIM:619060
HP:0000426	Prominent nasal bridge	22884	WDR37	OMIM:618652
HP:0000426	Prominent nasal bridge	1193	CLIC2	ORPHA:324410
HP:0000426	Prominent nasal bridge	57178	ZMIZ1	OMIM:618659
HP:0000426	Prominent nasal bridge	23314	SATB2	OMIM:612313
HP:0000426	Prominent nasal bridge	23314	SATB2	ORPHA:251028
HP:0000426	Prominent nasal bridge	23314	SATB2	ORPHA:251019
HP:0000426	Prominent nasal bridge	200734	SPRED2	OMIM:619745
HP:0000426	Prominent nasal bridge	11193	WBP4	OMIM:620852
HP:0000426	Prominent nasal bridge	25942	SIN3A	OMIM:613406
HP:0000426	Prominent nasal bridge	25942	SIN3A	ORPHA:94065
HP:0000426	Prominent nasal bridge	26834	RNU4-2	OMIM:620851
HP:0000426	Prominent nasal bridge	4247	MGAT2	OMIM:212066
HP:0000426	Prominent nasal bridge	2200	FBN1	OMIM:616914
HP:0000426	Prominent nasal bridge	54345	SOX18	OMIM:137940
HP:0000426	Prominent nasal bridge	2074	ERCC6	OMIM:214150
HP:0000426	Prominent nasal bridge	2074	ERCC6	OMIM:133540
HP:0000426	Prominent nasal bridge	9851	KIAA0753	ORPHA:475
HP:0000426	Prominent nasal bridge	9851	KIAA0753	ORPHA:2754
HP:0000426	Prominent nasal bridge	5147	PDE6D	ORPHA:475
HP:0000426	Prominent nasal bridge	5147	PDE6D	ORPHA:2754
HP:0000426	Prominent nasal bridge	79600	TCTN1	ORPHA:475
HP:0000426	Prominent nasal bridge	79848	CSPP1	ORPHA:475
HP:0000426	Prominent nasal bridge	8481	OFD1	ORPHA:475
HP:0000426	Prominent nasal bridge	8481	OFD1	ORPHA:2754
HP:0000426	Prominent nasal bridge	51684	SUFU	ORPHA:475
HP:0000426	Prominent nasal bridge	65250	CPLANE1	ORPHA:475
HP:0000426	Prominent nasal bridge	65250	CPLANE1	ORPHA:2754
HP:0000426	Prominent nasal bridge	91147	TMEM67	ORPHA:475
HP:0000426	Prominent nasal bridge	91147	TMEM67	ORPHA:1454
HP:0000426	Prominent nasal bridge	200894	ARL13B	ORPHA:475
HP:0000426	Prominent nasal bridge	9731	CEP104	ORPHA:475
HP:0000426	Prominent nasal bridge	219844	HYLS1	ORPHA:475
HP:0000426	Prominent nasal bridge	23247	KATNIP	ORPHA:475
HP:0000426	Prominent nasal bridge	219854	TMEM218	ORPHA:475
HP:0000426	Prominent nasal bridge	9786	KIAA0586	ORPHA:475
HP:0000426	Prominent nasal bridge	26123	TCTN3	ORPHA:475
HP:0000426	Prominent nasal bridge	26123	TCTN3	ORPHA:2754
HP:0000426	Prominent nasal bridge	79867	TCTN2	ORPHA:475
HP:0000426	Prominent nasal bridge	80776	B9D2	ORPHA:475
HP:0000426	Prominent nasal bridge	10464	PIBF1	ORPHA:475
HP:0000426	Prominent nasal bridge	80210	ARMC9	ORPHA:475
HP:0000426	Prominent nasal bridge	23116	TOGARAM1	ORPHA:475
HP:0000426	Prominent nasal bridge	25776	CBY1	ORPHA:475
HP:0000426	Prominent nasal bridge	27077	B9D1	ORPHA:475
HP:0000426	Prominent nasal bridge	403	ARL3	ORPHA:475
HP:0000426	Prominent nasal bridge	80173	IFT74	ORPHA:475
HP:0000426	Prominent nasal bridge	80173	IFT74	ORPHA:110
HP:0000426	Prominent nasal bridge	92482	BBIP1	ORPHA:110
HP:0000426	Prominent nasal bridge	80184	CEP290	ORPHA:110
HP:0000426	Prominent nasal bridge	80184	CEP290	ORPHA:2318
HP:0000426	Prominent nasal bridge	11020	IFT27	ORPHA:110
HP:0000426	Prominent nasal bridge	582	BBS1	ORPHA:110
HP:0000426	Prominent nasal bridge	49855	SCAPER	ORPHA:110
HP:0000426	Prominent nasal bridge	51057	WDPCP	ORPHA:110
HP:0000426	Prominent nasal bridge	132320	SCLT1	ORPHA:110
HP:0000426	Prominent nasal bridge	27241	BBS9	ORPHA:110
HP:0000426	Prominent nasal bridge	84984	CEP19	ORPHA:110
HP:0000426	Prominent nasal bridge	22954	TRIM32	ORPHA:110
HP:0000426	Prominent nasal bridge	79738	BBS10	ORPHA:110
HP:0000426	Prominent nasal bridge	123016	TTC8	ORPHA:110
HP:0000426	Prominent nasal bridge	26160	IFT172	ORPHA:110
HP:0000426	Prominent nasal bridge	583	BBS2	ORPHA:110
HP:0000426	Prominent nasal bridge	585	BBS4	ORPHA:110
HP:0000426	Prominent nasal bridge	8195	MKKS	ORPHA:110
HP:0000426	Prominent nasal bridge	54585	LZTFL1	ORPHA:110
HP:0000426	Prominent nasal bridge	55212	BBS7	ORPHA:110
HP:0000426	Prominent nasal bridge	166379	BBS12	ORPHA:110
HP:0000426	Prominent nasal bridge	10806	SDCCAG8	ORPHA:110
HP:0000426	Prominent nasal bridge	157657	CFAP418	ORPHA:110
HP:0000426	Prominent nasal bridge	84100	ARL6	ORPHA:110
HP:0000426	Prominent nasal bridge	129880	BBS5	ORPHA:110
HP:0000426	Prominent nasal bridge	7025	NR2F1	ORPHA:401777
HP:0000426	Prominent nasal bridge	7025	NR2F1	OMIM:615722
HP:0000426	Prominent nasal bridge	253738	EBF3	OMIM:617330
HP:0000426	Prominent nasal bridge	253738	EBF3	ORPHA:96148
HP:0000426	Prominent nasal bridge	26038	CHD5	OMIM:619873
HP:0000426	Prominent nasal bridge	65109	UPF3B	OMIM:300676
HP:0000426	Prominent nasal bridge	65109	UPF3B	ORPHA:776
HP:0000426	Prominent nasal bridge	5063	PAK3	OMIM:300558
HP:0000426	Prominent nasal bridge	51633	OTUD6B	OMIM:617452
HP:0000426	Prominent nasal bridge	51633	OTUD6B	ORPHA:505237
HP:0000426	Prominent nasal bridge	116115	ZNF526	OMIM:619877
HP:0000426	Prominent nasal bridge	285175	UNC80	OMIM:616801
HP:0000426	Prominent nasal bridge	285175	UNC80	ORPHA:371364
HP:0000426	Prominent nasal bridge	5649	RELN	OMIM:257320
HP:0000426	Prominent nasal bridge	1859	DYRK1A	ORPHA:464311
HP:0000426	Prominent nasal bridge	1859	DYRK1A	ORPHA:268261
HP:0000426	Prominent nasal bridge	1859	DYRK1A	OMIM:614104
HP:0000426	Prominent nasal bridge	10907	TXNL4A	OMIM:608572
HP:0000426	Prominent nasal bridge	10907	TXNL4A	ORPHA:1200
HP:0000426	Prominent nasal bridge	78989	COLEC11	OMIM:265050
HP:0000426	Prominent nasal bridge	4089	SMAD4	OMIM:139210
HP:0000426	Prominent nasal bridge	5159	PDGFRB	OMIM:601812
HP:0000426	Prominent nasal bridge	56098	PCDHGC4	OMIM:619880
HP:0000426	Prominent nasal bridge	2263	FGFR2	OMIM:123790
HP:0000426	Prominent nasal bridge	2263	FGFR2	ORPHA:794
HP:0000426	Prominent nasal bridge	471	ATIC	OMIM:608688
HP:0000426	Prominent nasal bridge	5373	PMM2	ORPHA:79318
HP:0000426	Prominent nasal bridge	8242	KDM5C	OMIM:300534
HP:0000426	Prominent nasal bridge	8242	KDM5C	ORPHA:85279
HP:0000426	Prominent nasal bridge	23162	MAPK8IP3	OMIM:618443
HP:0000426	Prominent nasal bridge	6611	SMS	OMIM:309583
HP:0000426	Prominent nasal bridge	6611	SMS	ORPHA:3063
HP:0000426	Prominent nasal bridge	85459	CEP295	OMIM:620767
HP:0000426	Prominent nasal bridge	85440	DOCK7	OMIM:615859
HP:0000426	Prominent nasal bridge	85440	DOCK7	ORPHA:411986
HP:0000426	Prominent nasal bridge	79087	ALG12	ORPHA:79324
HP:0000426	Prominent nasal bridge	3339	HSPG2	ORPHA:800
HP:0000426	Prominent nasal bridge	80067	DCAF17	OMIM:241080
HP:0000426	Prominent nasal bridge	8295	TRRAP	OMIM:618454
HP:0000426	Prominent nasal bridge	29123	ANKRD11	OMIM:148050
HP:0000426	Prominent nasal bridge	29123	ANKRD11	ORPHA:2332
HP:0000426	Prominent nasal bridge	8621	CDK13	OMIM:617360
HP:0000426	Prominent nasal bridge	5587	PRKD1	OMIM:617364
HP:0000426	Prominent nasal bridge	2703	GJA8	OMIM:612474
HP:0000426	Prominent nasal bridge	2702	GJA5	OMIM:612474
HP:0000426	Prominent nasal bridge	4212	MEIS2	ORPHA:261190
HP:0000426	Prominent nasal bridge	6878	TAF6	OMIM:617126
HP:0000426	Prominent nasal bridge	10664	CTCF	OMIM:615502
HP:0000426	Prominent nasal bridge	5908	RAP1B	OMIM:620654
HP:0000426	Prominent nasal bridge	55081	IFT57	OMIM:617927
HP:0000426	Prominent nasal bridge	7291	TWIST1	ORPHA:794
HP:0000426	Prominent nasal bridge	2261	FGFR3	ORPHA:794
HP:0000426	Prominent nasal bridge	8925	HERC1	OMIM:617011
HP:0000426	Prominent nasal bridge	8925	HERC1	ORPHA:457359
HP:0000426	Prominent nasal bridge	23013	SPEN	OMIM:619312
HP:0000426	Prominent nasal bridge	30000	TNPO2	OMIM:619556
HP:0000426	Prominent nasal bridge	10765	KDM5B	OMIM:618109
HP:0000426	Prominent nasal bridge	8573	CASK	OMIM:300749
HP:0000426	Prominent nasal bridge	50814	NSDHL	ORPHA:251383
HP:0000426	Prominent nasal bridge	50814	NSDHL	OMIM:300831
HP:0000426	Prominent nasal bridge	2334	AFF2	ORPHA:100973
HP:0000426	Prominent nasal bridge	2334	AFF2	OMIM:309548
HP:0000426	Prominent nasal bridge	55869	HDAC8	OMIM:300882
HP:0000426	Prominent nasal bridge	10847	SRCAP	OMIM:136140
HP:0000426	Prominent nasal bridge	23114	NFASC	OMIM:618356
HP:0000426	Prominent nasal bridge	29998	BICRA	OMIM:619325
HP:0000426	Prominent nasal bridge	9342	SNAP29	ORPHA:66631
HP:0000426	Prominent nasal bridge	7453	WARS1	OMIM:620317
HP:0000426	Prominent nasal bridge	3097	HIVEP2	OMIM:616977
HP:0000426	Prominent nasal bridge	54820	NDE1	OMIM:605013
HP:0000426	Prominent nasal bridge	51114	ZDHHC9	ORPHA:776
HP:0000426	Prominent nasal bridge	9968	MED12	ORPHA:776
HP:0000426	Prominent nasal bridge	9968	MED12	OMIM:309520
HP:0000426	Prominent nasal bridge	1908	EDN3	ORPHA:897
HP:0000426	Prominent nasal bridge	4286	MITF	ORPHA:897
HP:0000426	Prominent nasal bridge	1910	EDNRB	ORPHA:897
HP:0000426	Prominent nasal bridge	6663	SOX10	ORPHA:897
HP:0000426	Prominent nasal bridge	6663	SOX10	ORPHA:163746
HP:0000426	Prominent nasal bridge	2067	ERCC1	OMIM:610758
HP:0000426	Prominent nasal bridge	9126	SMC3	OMIM:610759
HP:0000426	Prominent nasal bridge	1725	DHPS	OMIM:618480
HP:0000426	Prominent nasal bridge	4810	NHS	OMIM:302350
HP:0000426	Prominent nasal bridge	4810	NHS	ORPHA:627
HP:0000426	Prominent nasal bridge	56915	EXOSC5	OMIM:619576
HP:0000426	Prominent nasal bridge	51132	RLIM	OMIM:300978
HP:0000426	Prominent nasal bridge	63925	ZNF335	OMIM:615095
HP:0000426	Prominent nasal bridge	5925	RB1	ORPHA:1587
HP:0000426	Prominent nasal bridge	9969	MED13	OMIM:618009
HP:0000426	Prominent nasal bridge	1063	CENPF	OMIM:243605
HP:0000426	Prominent nasal bridge	1312	COMT	ORPHA:567
HP:0000426	Prominent nasal bridge	221037	JMJD1C	ORPHA:567
HP:0000426	Prominent nasal bridge	2812	GP1BB	ORPHA:567
HP:0000426	Prominent nasal bridge	6239	RREB1	ORPHA:567
HP:0000426	Prominent nasal bridge	6899	TBX1	ORPHA:567
HP:0000426	Prominent nasal bridge	7290	HIRA	ORPHA:567
HP:0000426	Prominent nasal bridge	9632	SEC24C	ORPHA:567
HP:0000426	Prominent nasal bridge	7353	UFD1	ORPHA:567
HP:0000426	Prominent nasal bridge	421	ARVCF	ORPHA:567
HP:0000426	Prominent nasal bridge	79583	TMEM231	ORPHA:2318
HP:0000426	Prominent nasal bridge	79583	TMEM231	ORPHA:2754
HP:0000426	Prominent nasal bridge	51524	TMEM138	ORPHA:2318
HP:0000426	Prominent nasal bridge	23090	ZNF423	ORPHA:2318
HP:0000426	Prominent nasal bridge	51259	TMEM216	ORPHA:2318
HP:0000426	Prominent nasal bridge	51259	TMEM216	ORPHA:2754
HP:0000426	Prominent nasal bridge	57545	CC2D2A	ORPHA:2318
HP:0000426	Prominent nasal bridge	57545	CC2D2A	ORPHA:1454
HP:0000426	Prominent nasal bridge	5077	PAX3	OMIM:148820
HP:0000426	Prominent nasal bridge	91647	ATPAF2	OMIM:604273
HP:0000426	Prominent nasal bridge	444	ASPH	OMIM:601552
HP:0000426	Prominent nasal bridge	8091	HMGA2	ORPHA:94063
HP:0000426	Prominent nasal bridge	23592	LEMD3	ORPHA:94063
HP:0000426	Prominent nasal bridge	128637	TBC1D20	OMIM:615663
HP:0000426	Prominent nasal bridge	5116	PCNT	OMIM:210720
HP:0000426	Prominent nasal bridge	2239	GPC4	ORPHA:2662
HP:0000426	Prominent nasal bridge	23594	ORC6	OMIM:613803
HP:0000426	Prominent nasal bridge	6874	TAF4	OMIM:620450
HP:0000426	Prominent nasal bridge	79736	TEFM	OMIM:620451
HP:0000426	Prominent nasal bridge	10526	IPO8	OMIM:619472
HP:0000426	Prominent nasal bridge	7204	TRIO	OMIM:618825
HP:0000426	Prominent nasal bridge	25782	RAB3GAP2	OMIM:614225
HP:0000426	Prominent nasal bridge	25885	POLR1A	ORPHA:1200
HP:0000426	Prominent nasal bridge	259232	NALCN	ORPHA:371364
HP:0000426	Prominent nasal bridge	25914	RTTN	ORPHA:468631
HP:0000426	Prominent nasal bridge	8405	SPOP	OMIM:618828
HP:0000426	Prominent nasal bridge	8405	SPOP	OMIM:618829
HP:0000426	Prominent nasal bridge	6925	TCF4	ORPHA:2896
HP:0000426	Prominent nasal bridge	2132	EXT2	ORPHA:52022
HP:0000426	Prominent nasal bridge	60529	ALX4	ORPHA:52022
HP:0000426	Prominent nasal bridge	51317	PHF21A	ORPHA:52022
HP:0000426	Prominent nasal bridge	374879	ZNF699	OMIM:619488
HP:0000426	Prominent nasal bridge	57038	RARS2	OMIM:611523
HP:0000426	Prominent nasal bridge	8626	TP63	ORPHA:978
HP:0000426	Prominent nasal bridge	22995	CEP152	OMIM:613823
HP:0000426	Prominent nasal bridge	4841	NONO	ORPHA:466791
HP:0000426	Prominent nasal bridge	54888	NSUN2	OMIM:611091
HP:0000426	Prominent nasal bridge	7518	XRCC4	OMIM:616541
HP:0000426	Prominent nasal bridge	5879	RAC1	OMIM:617751
HP:0000426	Prominent nasal bridge	5879	RAC1	ORPHA:500159
HP:0000426	Prominent nasal bridge	3643	INSR	ORPHA:769
HP:0000426	Prominent nasal bridge	4683	NBN	ORPHA:647
HP:0000426	Prominent nasal bridge	10210	TOPORS	ORPHA:2754
HP:0000426	Prominent nasal bridge	317662	FAM149B1	ORPHA:2754
HP:0000426	Prominent nasal bridge	374654	KIF7	ORPHA:2754
HP:0000426	Prominent nasal bridge	11011	TLK2	OMIM:618050
HP:0000426	Prominent nasal bridge	5965	RECQL	OMIM:620370
HP:0000426	Prominent nasal bridge	4204	MECP2	OMIM:300260
HP:0000426	Prominent nasal bridge	375056	MIA3	OMIM:619269
HP:0000426	Prominent nasal bridge	672	BRCA1	OMIM:617883
HP:0000426	Prominent nasal bridge	7043	TGFB3	OMIM:615582
HP:0000426	Prominent nasal bridge	84148	KAT8	OMIM:618974
HP:0000430	Underdeveloped nasal alae	55217	TMLHE	OMIM:300872
HP:0000430	Underdeveloped nasal alae	3763	KCNJ6	ORPHA:435628
HP:0000430	Underdeveloped nasal alae	3763	KCNJ6	OMIM:614098
HP:0000430	Underdeveloped nasal alae	4621	MYH3	ORPHA:2053
HP:0000430	Underdeveloped nasal alae	4621	MYH3	OMIM:193700
HP:0000430	Underdeveloped nasal alae	259232	NALCN	ORPHA:2053
HP:0000430	Underdeveloped nasal alae	1281	COL3A1	OMIM:618343
HP:0000430	Underdeveloped nasal alae	341640	FREM2	ORPHA:2052
HP:0000430	Underdeveloped nasal alae	341640	FREM2	OMIM:617666
HP:0000430	Underdeveloped nasal alae	80144	FRAS1	ORPHA:2052
HP:0000430	Underdeveloped nasal alae	80144	FRAS1	OMIM:219000
HP:0000430	Underdeveloped nasal alae	23426	GRIP1	ORPHA:2052
HP:0000430	Underdeveloped nasal alae	340533	NEXMIF	OMIM:300912
HP:0000430	Underdeveloped nasal alae	1859	DYRK1A	ORPHA:268261
HP:0000430	Underdeveloped nasal alae	29123	ANKRD11	ORPHA:2332
HP:0000430	Underdeveloped nasal alae	29123	ANKRD11	OMIM:148050
HP:0000430	Underdeveloped nasal alae	9759	HDAC4	ORPHA:1001
HP:0000430	Underdeveloped nasal alae	8092	ALX1	OMIM:613456
HP:0000430	Underdeveloped nasal alae	8092	ALX1	ORPHA:306542
HP:0000430	Underdeveloped nasal alae	100151683	RNU4ATAC	ORPHA:353298
HP:0000430	Underdeveloped nasal alae	100151683	RNU4ATAC	OMIM:616651
HP:0000430	Underdeveloped nasal alae	79650	USB1	OMIM:604173
HP:0000430	Underdeveloped nasal alae	3190	HNRNPK	ORPHA:453504
HP:0000430	Underdeveloped nasal alae	3190	HNRNPK	OMIM:616580
HP:0000430	Underdeveloped nasal alae	3190	HNRNPK	ORPHA:352665
HP:0000430	Underdeveloped nasal alae	4784	NFIX	ORPHA:447980
HP:0000430	Underdeveloped nasal alae	9241	NOG	OMIM:184460
HP:0000430	Underdeveloped nasal alae	9241	NOG	OMIM:186500
HP:0000430	Underdeveloped nasal alae	5631	PRPS1	ORPHA:423479
HP:0000430	Underdeveloped nasal alae	197131	UBR1	OMIM:243800
HP:0000430	Underdeveloped nasal alae	197131	UBR1	ORPHA:2315
HP:0000430	Underdeveloped nasal alae	10847	SRCAP	OMIM:136140
HP:0000430	Underdeveloped nasal alae	91179	SCARF2	OMIM:600920
HP:0000430	Underdeveloped nasal alae	3020	H3-3A	OMIM:619720
HP:0000430	Underdeveloped nasal alae	613	BCR	ORPHA:261330
HP:0000430	Underdeveloped nasal alae	1399	CRKL	ORPHA:261330
HP:0000430	Underdeveloped nasal alae	5594	MAPK1	ORPHA:261330
HP:0000430	Underdeveloped nasal alae	29998	BICRA	OMIM:619325
HP:0000430	Underdeveloped nasal alae	80816	ASXL3	OMIM:615485
HP:0000430	Underdeveloped nasal alae	80816	ASXL3	ORPHA:352577
HP:0000430	Underdeveloped nasal alae	10978	CLP1	ORPHA:411493
HP:0000430	Underdeveloped nasal alae	10978	CLP1	OMIM:615803
HP:0000430	Underdeveloped nasal alae	2317	FLNB	OMIM:112310
HP:0000430	Underdeveloped nasal alae	54101	RIPK4	ORPHA:1234
HP:0000430	Underdeveloped nasal alae	54101	RIPK4	OMIM:263650
HP:0000430	Underdeveloped nasal alae	526	ATP6V1B2	OMIM:616455
HP:0000430	Underdeveloped nasal alae	5831	PYCR1	OMIM:614438
HP:0000430	Underdeveloped nasal alae	5339	PLEC	OMIM:612138
HP:0000430	Underdeveloped nasal alae	150468	CKAP2L	ORPHA:3255
HP:0000430	Underdeveloped nasal alae	150468	CKAP2L	OMIM:272440
HP:0000430	Underdeveloped nasal alae	1908	EDN3	ORPHA:897
HP:0000430	Underdeveloped nasal alae	4286	MITF	ORPHA:897
HP:0000430	Underdeveloped nasal alae	4286	MITF	OMIM:193510
HP:0000430	Underdeveloped nasal alae	1910	EDNRB	ORPHA:897
HP:0000430	Underdeveloped nasal alae	6663	SOX10	ORPHA:897
HP:0000430	Underdeveloped nasal alae	6663	SOX10	ORPHA:163746
HP:0000430	Underdeveloped nasal alae	6595	SMARCA2	OMIM:619293
HP:0000430	Underdeveloped nasal alae	1896	EDA	OMIM:305100
HP:0000430	Underdeveloped nasal alae	284058	KANSL1	ORPHA:363958
HP:0000430	Underdeveloped nasal alae	284058	KANSL1	ORPHA:363965
HP:0000430	Underdeveloped nasal alae	8260	NAA10	OMIM:300855
HP:0000430	Underdeveloped nasal alae	8260	NAA10	ORPHA:276432
HP:0000430	Underdeveloped nasal alae	166378	AFG2A	ORPHA:457351
HP:0000430	Underdeveloped nasal alae	51109	RDH11	OMIM:616108
HP:0000430	Underdeveloped nasal alae	51109	RDH11	ORPHA:436245
HP:0000430	Underdeveloped nasal alae	2248	FGF3	ORPHA:90024
HP:0000430	Underdeveloped nasal alae	2697	GJA1	ORPHA:2710
HP:0000430	Underdeveloped nasal alae	2697	GJA1	OMIM:164200
HP:0000430	Underdeveloped nasal alae	2697	GJA1	OMIM:257850
HP:0000430	Underdeveloped nasal alae	64327	LMBR1	OMIM:135750
HP:0000430	Underdeveloped nasal alae	64327	LMBR1	ORPHA:2378
HP:0000430	Underdeveloped nasal alae	9401	RECQL4	OMIM:218600
HP:0000430	Underdeveloped nasal alae	79796	ALG9	OMIM:263210
HP:0000430	Underdeveloped nasal alae	79796	ALG9	ORPHA:79328
HP:0000430	Underdeveloped nasal alae	3188	HNRNPH2	OMIM:300986
HP:0000430	Underdeveloped nasal alae	5813	PURA	ORPHA:438216
HP:0000430	Underdeveloped nasal alae	5813	PURA	OMIM:616158
HP:0000430	Underdeveloped nasal alae	55012	PPP2R3C	OMIM:618419
HP:0000430	Underdeveloped nasal alae	4598	MVK	OMIM:610377
HP:0000430	Underdeveloped nasal alae	5000	ORC4	OMIM:613800
HP:0000430	Underdeveloped nasal alae	25942	SIN3A	OMIM:613406
HP:0000430	Underdeveloped nasal alae	26834	RNU4-2	OMIM:620851
HP:0000430	Underdeveloped nasal alae	6874	TAF4	OMIM:620450
HP:0000430	Underdeveloped nasal alae	1499	CTNNB1	ORPHA:404473
HP:0000430	Underdeveloped nasal alae	55699	IARS2	OMIM:616007
HP:0000430	Underdeveloped nasal alae	7204	TRIO	OMIM:618825
HP:0000430	Underdeveloped nasal alae	117581	TWIST2	OMIM:209885
HP:0000430	Underdeveloped nasal alae	117581	TWIST2	ORPHA:920
HP:0000430	Underdeveloped nasal alae	79005	SCNM1	OMIM:620107
HP:0000430	Underdeveloped nasal alae	10283	CWC27	OMIM:250410
HP:0000430	Underdeveloped nasal alae	10283	CWC27	ORPHA:166035
HP:0000430	Underdeveloped nasal alae	8626	TP63	OMIM:129400
HP:0000430	Underdeveloped nasal alae	1836	SLC26A2	ORPHA:628
HP:0000430	Underdeveloped nasal alae	157570	ESCO2	ORPHA:3103
HP:0000430	Underdeveloped nasal alae	157570	ESCO2	OMIM:268300
HP:0000430	Underdeveloped nasal alae	8085	KMT2D	OMIM:620186
HP:0000430	Underdeveloped nasal alae	8085	KMT2D	OMIM:147920
HP:0000430	Underdeveloped nasal alae	2132	EXT2	ORPHA:52022
HP:0000430	Underdeveloped nasal alae	60529	ALX4	ORPHA:52022
HP:0000430	Underdeveloped nasal alae	60529	ALX4	ORPHA:228390
HP:0000430	Underdeveloped nasal alae	51317	PHF21A	ORPHA:52022
HP:0000430	Underdeveloped nasal alae	10907	TXNL4A	OMIM:608572
HP:0000430	Underdeveloped nasal alae	8567	MADD	OMIM:619005
HP:0000430	Underdeveloped nasal alae	10651	MTX2	OMIM:619127
HP:0000430	Underdeveloped nasal alae	4256	MGP	ORPHA:85202
HP:0000430	Underdeveloped nasal alae	8481	OFD1	OMIM:311200
HP:0000430	Underdeveloped nasal alae	8481	OFD1	ORPHA:2750
HP:0000430	Underdeveloped nasal alae	5500	PPP1CB	OMIM:617506
HP:0000430	Underdeveloped nasal alae	2542	SLC37A4	OMIM:619525
HP:0000430	Underdeveloped nasal alae	7291	TWIST1	OMIM:617746
HP:0000430	Underdeveloped nasal alae	54487	DGCR8	OMIM:192430
HP:0000430	Underdeveloped nasal alae	6899	TBX1	OMIM:192430
HP:0000430	Underdeveloped nasal alae	8214	DGCR6	OMIM:192430
HP:0000430	Underdeveloped nasal alae	8220	ESS2	OMIM:192430
HP:0000430	Underdeveloped nasal alae	9993	DGCR2	OMIM:192430
HP:0000430	Underdeveloped nasal alae	5077	PAX3	ORPHA:894
HP:0000430	Underdeveloped nasal alae	5077	PAX3	OMIM:193500
HP:0000430	Underdeveloped nasal alae	80267	EDEM3	OMIM:619493
HP:0000430	Underdeveloped nasal alae	5295	PIK3R1	OMIM:269880
HP:0000430	Underdeveloped nasal alae	54888	NSUN2	OMIM:611091
HP:0000430	Underdeveloped nasal alae	1984	EIF5A	OMIM:619376
HP:0000430	Underdeveloped nasal alae	5116	PCNT	ORPHA:2637
HP:0000430	Underdeveloped nasal alae	84700	MYO18B	OMIM:616549
HP:0000430	Underdeveloped nasal alae	55835	CPAP	OMIM:613676
HP:0000430	Underdeveloped nasal alae	5965	RECQL	OMIM:620370
HP:0000430	Underdeveloped nasal alae	1387	CREBBP	OMIM:618332
HP:0000430	Underdeveloped nasal alae	101929726	MYMX	OMIM:619941
HP:0000430	Underdeveloped nasal alae	672	BRCA1	OMIM:617883
HP:0000430	Underdeveloped nasal alae	4921	DDR2	OMIM:618175
HP:0000430	Underdeveloped nasal alae	6878	TAF6	OMIM:617126
HP:0000430	Underdeveloped nasal alae	51053	GMNN	OMIM:616835
HP:0000430	Underdeveloped nasal alae	1642	DDB1	OMIM:619426
HP:0000430	Underdeveloped nasal alae	7319	UBE2A	ORPHA:163956
HP:0000430	Underdeveloped nasal alae	6664	SOX11	OMIM:615866
HP:0000430	Underdeveloped nasal alae	7227	TRPS1	OMIM:190351
HP:0000430	Underdeveloped nasal alae	84181	CHD6	ORPHA:2108
HP:0000430	Underdeveloped nasal alae	7403	KDM6A	OMIM:147920
HP:0000453	Choanal atresia	3476	IGBP1	OMIM:300472
HP:0000453	Choanal atresia	3476	IGBP1	ORPHA:52055
HP:0000453	Choanal atresia	2737	GLI3	ORPHA:672
HP:0000453	Choanal atresia	2737	GLI3	OMIM:146510
HP:0000453	Choanal atresia	8243	SMC1A	OMIM:301044
HP:0000453	Choanal atresia	8243	SMC1A	ORPHA:199
HP:0000453	Choanal atresia	2304	FOXE1	OMIM:241850
HP:0000453	Choanal atresia	2304	FOXE1	ORPHA:1226
HP:0000453	Choanal atresia	4683	NBN	OMIM:251260
HP:0000453	Choanal atresia	2260	FGFR1	OMIM:147950
HP:0000453	Choanal atresia	2260	FGFR1	ORPHA:280200
HP:0000453	Choanal atresia	2260	FGFR1	ORPHA:2645
HP:0000453	Choanal atresia	2260	FGFR1	OMIM:166250
HP:0000453	Choanal atresia	2260	FGFR1	OMIM:101600
HP:0000453	Choanal atresia	2904	GRIN2B	OMIM:613970
HP:0000453	Choanal atresia	5784	PTPN14	OMIM:613611
HP:0000453	Choanal atresia	2261	FGFR3	OMIM:612247
HP:0000453	Choanal atresia	2261	FGFR3	ORPHA:93262
HP:0000453	Choanal atresia	2261	FGFR3	ORPHA:2363
HP:0000453	Choanal atresia	57167	SALL4	OMIM:607323
HP:0000453	Choanal atresia	8626	TP63	OMIM:604292
HP:0000453	Choanal atresia	8626	TP63	ORPHA:1896
HP:0000453	Choanal atresia	5447	POR	ORPHA:95699
HP:0000453	Choanal atresia	5447	POR	OMIM:207410
HP:0000453	Choanal atresia	5447	POR	OMIM:201750
HP:0000453	Choanal atresia	6299	SALL1	OMIM:107480
HP:0000453	Choanal atresia	613	BCR	ORPHA:261330
HP:0000453	Choanal atresia	1399	CRKL	ORPHA:261330
HP:0000453	Choanal atresia	5594	MAPK1	ORPHA:261330
HP:0000453	Choanal atresia	1723	DHODH	OMIM:263750
HP:0000453	Choanal atresia	473	RERE	OMIM:616975
HP:0000453	Choanal atresia	473	RERE	ORPHA:494344
HP:0000453	Choanal atresia	2263	FGFR2	OMIM:207410
HP:0000453	Choanal atresia	2263	FGFR2	ORPHA:87
HP:0000453	Choanal atresia	2263	FGFR2	ORPHA:93260
HP:0000453	Choanal atresia	2263	FGFR2	ORPHA:207
HP:0000453	Choanal atresia	2263	FGFR2	ORPHA:93259
HP:0000453	Choanal atresia	2263	FGFR2	ORPHA:1555
HP:0000453	Choanal atresia	2263	FGFR2	OMIM:123790
HP:0000453	Choanal atresia	2263	FGFR2	ORPHA:2363
HP:0000453	Choanal atresia	2263	FGFR2	OMIM:101600
HP:0000453	Choanal atresia	2263	FGFR2	OMIM:101200
HP:0000453	Choanal atresia	169792	GLIS3	OMIM:610199
HP:0000453	Choanal atresia	1717	DHCR7	ORPHA:818
HP:0000453	Choanal atresia	999	CDH1	OMIM:119580
HP:0000453	Choanal atresia	55636	CHD7	ORPHA:138
HP:0000453	Choanal atresia	55636	CHD7	OMIM:214800
HP:0000453	Choanal atresia	9723	SEMA3E	ORPHA:138
HP:0000453	Choanal atresia	56975	FAM20C	OMIM:259775
HP:0000453	Choanal atresia	28514	DLL1	ORPHA:280200
HP:0000453	Choanal atresia	2253	FGF8	ORPHA:280200
HP:0000453	Choanal atresia	6496	SIX3	ORPHA:280200
HP:0000453	Choanal atresia	7050	TGIF1	ORPHA:280200
HP:0000453	Choanal atresia	4838	NODAL	ORPHA:280200
HP:0000453	Choanal atresia	6469	SHH	ORPHA:280200
HP:0000453	Choanal atresia	6469	SHH	OMIM:147250
HP:0000453	Choanal atresia	51684	SUFU	ORPHA:280200
HP:0000453	Choanal atresia	7546	ZIC2	ORPHA:280200
HP:0000453	Choanal atresia	2619	GAS1	ORPHA:280200
HP:0000453	Choanal atresia	84976	DISP1	ORPHA:280200
HP:0000453	Choanal atresia	2736	GLI2	ORPHA:280200
HP:0000453	Choanal atresia	2736	GLI2	OMIM:610829
HP:0000453	Choanal atresia	8928	FOXH1	ORPHA:280200
HP:0000453	Choanal atresia	6997	CRIPTO	ORPHA:280200
HP:0000453	Choanal atresia	5727	PTCH1	ORPHA:280200
HP:0000453	Choanal atresia	50937	CDON	ORPHA:280200
HP:0000453	Choanal atresia	4072	EPCAM	ORPHA:92050
HP:0000453	Choanal atresia	105371045	PERCC1	ORPHA:92050
HP:0000453	Choanal atresia	4784	NFIX	OMIM:602535
HP:0000453	Choanal atresia	4784	NFIX	ORPHA:561
HP:0000453	Choanal atresia	51360	MBTPS2	ORPHA:2273
HP:0000453	Choanal atresia	63925	ZNF335	OMIM:615095
HP:0000453	Choanal atresia	57492	ARID1B	OMIM:135900
HP:0000453	Choanal atresia	25885	POLR1A	OMIM:616462
HP:0000453	Choanal atresia	10606	PAICS	OMIM:619859
HP:0000453	Choanal atresia	9968	MED12	ORPHA:93932
HP:0000453	Choanal atresia	9968	MED12	OMIM:305450
HP:0000453	Choanal atresia	2077	ERF	ORPHA:207
HP:0000453	Choanal atresia	672	BRCA1	ORPHA:84
HP:0000453	Choanal atresia	10459	MAD2L2	ORPHA:84
HP:0000453	Choanal atresia	7516	XRCC2	ORPHA:84
HP:0000453	Choanal atresia	29089	UBE2T	ORPHA:84
HP:0000453	Choanal atresia	675	BRCA2	ORPHA:84
HP:0000453	Choanal atresia	55120	FANCL	ORPHA:84
HP:0000453	Choanal atresia	2177	FANCD2	ORPHA:84
HP:0000453	Choanal atresia	2175	FANCA	ORPHA:84
HP:0000453	Choanal atresia	2187	FANCB	ORPHA:84
HP:0000453	Choanal atresia	2176	FANCC	ORPHA:84
HP:0000453	Choanal atresia	2178	FANCE	ORPHA:84
HP:0000453	Choanal atresia	2188	FANCF	ORPHA:84
HP:0000453	Choanal atresia	2189	FANCG	ORPHA:84
HP:0000453	Choanal atresia	5888	RAD51	ORPHA:84
HP:0000453	Choanal atresia	5889	RAD51C	ORPHA:84
HP:0000453	Choanal atresia	55159	RFWD3	ORPHA:84
HP:0000453	Choanal atresia	83990	BRIP1	ORPHA:84
HP:0000453	Choanal atresia	57697	FANCM	ORPHA:84
HP:0000453	Choanal atresia	79728	PALB2	ORPHA:84
HP:0000453	Choanal atresia	84464	SLX4	ORPHA:84
HP:0000453	Choanal atresia	2072	ERCC4	ORPHA:84
HP:0000453	Choanal atresia	55215	FANCI	ORPHA:84
HP:0000453	Choanal atresia	1312	COMT	ORPHA:567
HP:0000453	Choanal atresia	221037	JMJD1C	ORPHA:567
HP:0000453	Choanal atresia	2812	GP1BB	ORPHA:567
HP:0000453	Choanal atresia	6239	RREB1	ORPHA:567
HP:0000453	Choanal atresia	6899	TBX1	ORPHA:567
HP:0000453	Choanal atresia	7290	HIRA	ORPHA:567
HP:0000453	Choanal atresia	9632	SEC24C	ORPHA:567
HP:0000453	Choanal atresia	7353	UFD1	ORPHA:567
HP:0000453	Choanal atresia	421	ARVCF	ORPHA:567
HP:0000453	Choanal atresia	23347	SMCHD1	OMIM:603457
HP:0000453	Choanal atresia	23347	SMCHD1	ORPHA:2250
HP:0000453	Choanal atresia	6662	SOX9	ORPHA:718
HP:0000453	Choanal atresia	51729	WBP11	OMIM:619227
HP:0000453	Choanal atresia	9343	EFTUD2	OMIM:610536
HP:0000453	Choanal atresia	23476	BRD4	ORPHA:199
HP:0000453	Choanal atresia	9126	SMC3	ORPHA:199
HP:0000453	Choanal atresia	6878	TAF6	ORPHA:199
HP:0000453	Choanal atresia	25836	NIPBL	ORPHA:199
HP:0000453	Choanal atresia	25836	NIPBL	OMIM:122470
HP:0000453	Choanal atresia	55869	HDAC8	ORPHA:199
HP:0000453	Choanal atresia	5885	RAD21	ORPHA:199
HP:0000453	Choanal atresia	9791	PTDSS1	OMIM:151050
HP:0000453	Choanal atresia	9791	PTDSS1	ORPHA:2658
HP:0000453	Choanal atresia	6135	RPL11	OMIM:612562
HP:0000453	Choanal atresia	8239	USP9X	ORPHA:480880
HP:0000453	Choanal atresia	8239	USP9X	OMIM:300968
HP:0000453	Choanal atresia	9289	ADGRG1	ORPHA:98889
HP:0000453	Choanal atresia	5297	PI4KA	ORPHA:98889
HP:0000453	Choanal atresia	27286	SRPX2	ORPHA:98889
HP:0000453	Choanal atresia	8085	KMT2D	OMIM:620186
HP:0000453	Choanal atresia	8085	KMT2D	OMIM:147920
HP:0000453	Choanal atresia	10907	TXNL4A	OMIM:608572
HP:0000453	Choanal atresia	10653	SPINT2	OMIM:270420
HP:0000453	Choanal atresia	84172	POLR1B	ORPHA:861
HP:0000453	Choanal atresia	9533	POLR1C	ORPHA:861
HP:0000453	Choanal atresia	51082	POLR1D	ORPHA:861
HP:0000453	Choanal atresia	51082	POLR1D	OMIM:613717
HP:0000453	Choanal atresia	6949	TCOF1	ORPHA:861
HP:0000453	Choanal atresia	6949	TCOF1	OMIM:154500
HP:0000453	Choanal atresia	6558	SLC12A2	OMIM:619080
HP:0000453	Choanal atresia	8318	CDC45	OMIM:617063
HP:0000453	Choanal atresia	83737	ITCH	OMIM:613385
HP:0000453	Choanal atresia	83737	ITCH	ORPHA:228426
HP:0000453	Choanal atresia	2255	FGF10	ORPHA:2363
HP:0000453	Choanal atresia	7291	TWIST1	OMIM:617746
HP:0000453	Choanal atresia	6231	RPS26	OMIM:613309
HP:0000453	Choanal atresia	51322	WAC	ORPHA:284169
HP:0000453	Choanal atresia	5745	PTH1R	OMIM:156400
HP:0000453	Choanal atresia	3664	IRF6	ORPHA:1300
HP:0000453	Choanal atresia	4000	LMNA	ORPHA:1662
HP:0000453	Choanal atresia	10269	ZMPSTE24	ORPHA:1662
HP:0000453	Choanal atresia	10269	ZMPSTE24	OMIM:275210
HP:0000453	Choanal atresia	8481	OFD1	ORPHA:2750
HP:0000453	Choanal atresia	7473	WNT3	OMIM:273395
HP:0000453	Choanal atresia	26123	TCTN3	ORPHA:2753
HP:0000453	Choanal atresia	84168	ANTXR1	ORPHA:2067
HP:0000453	Choanal atresia	84181	CHD6	ORPHA:2108
HP:0000453	Choanal atresia	7403	KDM6A	OMIM:147920
HP:0000453	Choanal atresia	2542	SLC37A4	OMIM:619525
HP:0000453	Choanal atresia	79633	FAT4	ORPHA:314679
HP:0000453	Choanal atresia	8642	DCHS1	ORPHA:314679
HP:0000463	Anteverted nares	2137	EXTL3	ORPHA:508533
HP:0000463	Anteverted nares	2137	EXTL3	OMIM:617425
HP:0000463	Anteverted nares	1718	DHCR24	OMIM:602398
HP:0000463	Anteverted nares	8367	H4C5	OMIM:619950
HP:0000463	Anteverted nares	340533	NEXMIF	OMIM:300912
HP:0000463	Anteverted nares	340533	NEXMIF	ORPHA:1942
HP:0000463	Anteverted nares	6659	SOX4	OMIM:618506
HP:0000463	Anteverted nares	6659	SOX4	ORPHA:1465
HP:0000463	Anteverted nares	9820	CUL7	ORPHA:2616
HP:0000463	Anteverted nares	9820	CUL7	OMIM:273750
HP:0000463	Anteverted nares	23363	OBSL1	ORPHA:2616
HP:0000463	Anteverted nares	23363	OBSL1	OMIM:612921
HP:0000463	Anteverted nares	83987	CCDC8	ORPHA:2616
HP:0000463	Anteverted nares	83987	CCDC8	OMIM:614205
HP:0000463	Anteverted nares	10973	ASCC3	OMIM:620700
HP:0000463	Anteverted nares	81857	MED25	OMIM:616449
HP:0000463	Anteverted nares	81857	MED25	ORPHA:464738
HP:0000463	Anteverted nares	5927	KDM5A	OMIM:620820
HP:0000463	Anteverted nares	5457	POU4F1	ORPHA:314647
HP:0000463	Anteverted nares	23261	CAMTA1	ORPHA:314647
HP:0000463	Anteverted nares	23261	CAMTA1	OMIM:614756
HP:0000463	Anteverted nares	55209	SETD5	ORPHA:404440
HP:0000463	Anteverted nares	55209	SETD5	OMIM:615761
HP:0000463	Anteverted nares	116931	MED12L	OMIM:618872
HP:0000463	Anteverted nares	9578	CDC42BPB	OMIM:619841
HP:0000463	Anteverted nares	3020	H3-3A	OMIM:619720
HP:0000463	Anteverted nares	10300	KATNB1	OMIM:616212
HP:0000463	Anteverted nares	80816	ASXL3	OMIM:615485
HP:0000463	Anteverted nares	6536	SLC6A9	OMIM:617301
HP:0000463	Anteverted nares	51741	WWOX	OMIM:616211
HP:0000463	Anteverted nares	1855	DVL1	OMIM:616331
HP:0000463	Anteverted nares	1855	DVL1	OMIM:180700
HP:0000463	Anteverted nares	1855	DVL1	ORPHA:3107
HP:0000463	Anteverted nares	55790	CSGALNACT1	OMIM:618870
HP:0000463	Anteverted nares	55790	CSGALNACT1	ORPHA:1425
HP:0000463	Anteverted nares	5830	PEX5	OMIM:202370
HP:0000463	Anteverted nares	5830	PEX5	ORPHA:44
HP:0000463	Anteverted nares	23322	RPGRIP1L	ORPHA:220497
HP:0000463	Anteverted nares	23322	RPGRIP1L	ORPHA:1454
HP:0000463	Anteverted nares	4867	NPHP1	ORPHA:220497
HP:0000463	Anteverted nares	65062	TMEM237	ORPHA:220497
HP:0000463	Anteverted nares	65062	TMEM237	ORPHA:475
HP:0000463	Anteverted nares	65062	TMEM237	ORPHA:2318
HP:0000463	Anteverted nares	79639	TMEM53	OMIM:619727
HP:0000463	Anteverted nares	72	ACTG2	ORPHA:2604
HP:0000463	Anteverted nares	54806	AHI1	ORPHA:220493
HP:0000463	Anteverted nares	54806	AHI1	ORPHA:475
HP:0000463	Anteverted nares	54806	AHI1	OMIM:608629
HP:0000463	Anteverted nares	56623	INPP5E	ORPHA:220493
HP:0000463	Anteverted nares	56623	INPP5E	ORPHA:475
HP:0000463	Anteverted nares	56623	INPP5E	OMIM:213300
HP:0000463	Anteverted nares	56623	INPP5E	ORPHA:1454
HP:0000463	Anteverted nares	153241	CEP120	ORPHA:220493
HP:0000463	Anteverted nares	153241	CEP120	ORPHA:475
HP:0000463	Anteverted nares	54903	MKS1	ORPHA:220493
HP:0000463	Anteverted nares	54903	MKS1	ORPHA:475
HP:0000463	Anteverted nares	95681	CEP41	ORPHA:220493
HP:0000463	Anteverted nares	95681	CEP41	ORPHA:475
HP:0000463	Anteverted nares	5728	PTEN	ORPHA:2969
HP:0000463	Anteverted nares	5728	PTEN	ORPHA:109
HP:0000463	Anteverted nares	129563	DIS3L2	ORPHA:2849
HP:0000463	Anteverted nares	3764	KCNJ8	ORPHA:1517
HP:0000463	Anteverted nares	10060	ABCC9	ORPHA:1517
HP:0000463	Anteverted nares	10060	ABCC9	OMIM:239850
HP:0000463	Anteverted nares	79158	GNPTAB	OMIM:252500
HP:0000463	Anteverted nares	57539	WDR35	ORPHA:1515
HP:0000463	Anteverted nares	112752	IFT43	ORPHA:1515
HP:0000463	Anteverted nares	51098	IFT52	ORPHA:1515
HP:0000463	Anteverted nares	55764	IFT122	ORPHA:1515
HP:0000463	Anteverted nares	55764	IFT122	OMIM:218330
HP:0000463	Anteverted nares	57728	WDR19	ORPHA:1515
HP:0000463	Anteverted nares	57728	WDR19	OMIM:614378
HP:0000463	Anteverted nares	5189	PEX1	OMIM:214100
HP:0000463	Anteverted nares	5189	PEX1	ORPHA:44
HP:0000463	Anteverted nares	2260	FGFR1	ORPHA:280200
HP:0000463	Anteverted nares	2260	FGFR1	OMIM:166250
HP:0000463	Anteverted nares	2260	FGFR1	ORPHA:2645
HP:0000463	Anteverted nares	28514	DLL1	ORPHA:280200
HP:0000463	Anteverted nares	2253	FGF8	ORPHA:280200
HP:0000463	Anteverted nares	6496	SIX3	ORPHA:280200
HP:0000463	Anteverted nares	7050	TGIF1	ORPHA:280200
HP:0000463	Anteverted nares	4838	NODAL	ORPHA:280200
HP:0000463	Anteverted nares	6469	SHH	ORPHA:280200
HP:0000463	Anteverted nares	51684	SUFU	ORPHA:280200
HP:0000463	Anteverted nares	51684	SUFU	ORPHA:475
HP:0000463	Anteverted nares	7546	ZIC2	ORPHA:280200
HP:0000463	Anteverted nares	7546	ZIC2	OMIM:609637
HP:0000463	Anteverted nares	2619	GAS1	ORPHA:280200
HP:0000463	Anteverted nares	84976	DISP1	ORPHA:280200
HP:0000463	Anteverted nares	2736	GLI2	ORPHA:280200
HP:0000463	Anteverted nares	8928	FOXH1	ORPHA:280200
HP:0000463	Anteverted nares	6997	CRIPTO	ORPHA:280200
HP:0000463	Anteverted nares	5727	PTCH1	ORPHA:280200
HP:0000463	Anteverted nares	50937	CDON	ORPHA:280200
HP:0000463	Anteverted nares	6023	RMRP	ORPHA:175
HP:0000463	Anteverted nares	57589	RIC1	OMIM:618761
HP:0000463	Anteverted nares	79868	ALG13	ORPHA:324422
HP:0000463	Anteverted nares	79868	ALG13	OMIM:300884
HP:0000463	Anteverted nares	317662	FAM149B1	OMIM:618763
HP:0000463	Anteverted nares	55870	ASH1L	OMIM:617796
HP:0000463	Anteverted nares	25885	POLR1A	OMIM:616462
HP:0000463	Anteverted nares	10606	PAICS	OMIM:619859
HP:0000463	Anteverted nares	11232	POLG2	OMIM:618528
HP:0000463	Anteverted nares	4853	NOTCH2	OMIM:102500
HP:0000463	Anteverted nares	4853	NOTCH2	ORPHA:955
HP:0000463	Anteverted nares	64359	NXN	OMIM:618529
HP:0000463	Anteverted nares	64359	NXN	ORPHA:1507
HP:0000463	Anteverted nares	9326	ZNHIT3	ORPHA:2836
HP:0000463	Anteverted nares	2770	GNAI1	OMIM:619854
HP:0000463	Anteverted nares	4920	ROR2	ORPHA:1507
HP:0000463	Anteverted nares	4920	ROR2	OMIM:268310
HP:0000463	Anteverted nares	2697	GJA1	ORPHA:2710
HP:0000463	Anteverted nares	2697	GJA1	OMIM:164200
HP:0000463	Anteverted nares	1302	COL11A2	OMIM:184840
HP:0000463	Anteverted nares	1302	COL11A2	ORPHA:2021
HP:0000463	Anteverted nares	1302	COL11A2	OMIM:614524
HP:0000463	Anteverted nares	1302	COL11A2	OMIM:215150
HP:0000463	Anteverted nares	1302	COL11A2	ORPHA:1427
HP:0000463	Anteverted nares	6872	TAF1	ORPHA:480907
HP:0000463	Anteverted nares	6872	TAF1	OMIM:300966
HP:0000463	Anteverted nares	171023	ASXL1	ORPHA:97297
HP:0000463	Anteverted nares	171023	ASXL1	OMIM:605039
HP:0000463	Anteverted nares	10484	SEC23A	OMIM:607812
HP:0000463	Anteverted nares	10087	CERT1	OMIM:616351
HP:0000463	Anteverted nares	54968	TMEM70	OMIM:614052
HP:0000463	Anteverted nares	4330	MN1	OMIM:618774
HP:0000463	Anteverted nares	5442	POLRMT	OMIM:619743
HP:0000463	Anteverted nares	1301	COL11A1	OMIM:228520
HP:0000463	Anteverted nares	1301	COL11A1	OMIM:604841
HP:0000463	Anteverted nares	1301	COL11A1	ORPHA:560
HP:0000463	Anteverted nares	1301	COL11A1	OMIM:154780
HP:0000463	Anteverted nares	1301	COL11A1	ORPHA:2021
HP:0000463	Anteverted nares	57231	SNX14	OMIM:616354
HP:0000463	Anteverted nares	23327	NEDD4L	OMIM:617201
HP:0000463	Anteverted nares	8036	SHOC2	ORPHA:2701
HP:0000463	Anteverted nares	5500	PPP1CB	ORPHA:2701
HP:0000463	Anteverted nares	5813	PURA	ORPHA:438216
HP:0000463	Anteverted nares	5813	PURA	OMIM:616158
HP:0000463	Anteverted nares	5813	PURA	ORPHA:314655
HP:0000463	Anteverted nares	26040	SETBP1	OMIM:269150
HP:0000463	Anteverted nares	26834	RNU4-2	OMIM:620851
HP:0000463	Anteverted nares	8241	RBM10	OMIM:311900
HP:0000463	Anteverted nares	8241	RBM10	ORPHA:2886
HP:0000463	Anteverted nares	57167	SALL4	ORPHA:233
HP:0000463	Anteverted nares	9935	MAFB	ORPHA:233
HP:0000463	Anteverted nares	1123	CHN1	ORPHA:233
HP:0000463	Anteverted nares	9851	KIAA0753	ORPHA:475
HP:0000463	Anteverted nares	9851	KIAA0753	OMIM:617127
HP:0000463	Anteverted nares	5147	PDE6D	ORPHA:475
HP:0000463	Anteverted nares	79600	TCTN1	ORPHA:475
HP:0000463	Anteverted nares	79848	CSPP1	ORPHA:475
HP:0000463	Anteverted nares	8481	OFD1	ORPHA:475
HP:0000463	Anteverted nares	65250	CPLANE1	ORPHA:475
HP:0000463	Anteverted nares	91147	TMEM67	ORPHA:475
HP:0000463	Anteverted nares	91147	TMEM67	OMIM:216360
HP:0000463	Anteverted nares	91147	TMEM67	ORPHA:1454
HP:0000463	Anteverted nares	200894	ARL13B	ORPHA:475
HP:0000463	Anteverted nares	9731	CEP104	ORPHA:475
HP:0000463	Anteverted nares	219844	HYLS1	ORPHA:475
HP:0000463	Anteverted nares	23247	KATNIP	ORPHA:475
HP:0000463	Anteverted nares	23247	KATNIP	OMIM:616784
HP:0000463	Anteverted nares	219854	TMEM218	ORPHA:475
HP:0000463	Anteverted nares	9786	KIAA0586	ORPHA:475
HP:0000463	Anteverted nares	26123	TCTN3	ORPHA:475
HP:0000463	Anteverted nares	79867	TCTN2	ORPHA:475
HP:0000463	Anteverted nares	80776	B9D2	ORPHA:475
HP:0000463	Anteverted nares	10464	PIBF1	ORPHA:475
HP:0000463	Anteverted nares	80210	ARMC9	ORPHA:475
HP:0000463	Anteverted nares	23116	TOGARAM1	ORPHA:475
HP:0000463	Anteverted nares	23116	TOGARAM1	OMIM:619185
HP:0000463	Anteverted nares	25776	CBY1	ORPHA:475
HP:0000463	Anteverted nares	27077	B9D1	ORPHA:475
HP:0000463	Anteverted nares	403	ARL3	ORPHA:475
HP:0000463	Anteverted nares	403	ARL3	OMIM:618161
HP:0000463	Anteverted nares	80173	IFT74	ORPHA:475
HP:0000463	Anteverted nares	1789	DNMT3B	OMIM:242860
HP:0000463	Anteverted nares	5518	PPP2R1A	OMIM:616362
HP:0000463	Anteverted nares	5518	PPP2R1A	ORPHA:457284
HP:0000463	Anteverted nares	253738	EBF3	OMIM:617330
HP:0000463	Anteverted nares	55768	NGLY1	OMIM:615273
HP:0000463	Anteverted nares	8493	PPM1D	OMIM:617450
HP:0000463	Anteverted nares	85301	COL27A1	OMIM:615155
HP:0000463	Anteverted nares	51604	PIGT	OMIM:615398
HP:0000463	Anteverted nares	5792	PTPRF	OMIM:616001
HP:0000463	Anteverted nares	3572	IL6ST	OMIM:619750
HP:0000463	Anteverted nares	4613	MYCN	OMIM:620748
HP:0000463	Anteverted nares	4613	MYCN	OMIM:164280
HP:0000463	Anteverted nares	3845	KRAS	OMIM:615278
HP:0000463	Anteverted nares	3845	KRAS	ORPHA:3339
HP:0000463	Anteverted nares	3845	KRAS	ORPHA:1340
HP:0000463	Anteverted nares	3845	KRAS	OMIM:609942
HP:0000463	Anteverted nares	27125	AFF4	OMIM:616368
HP:0000463	Anteverted nares	27125	AFF4	ORPHA:444077
HP:0000463	Anteverted nares	57282	SLC4A10	OMIM:620746
HP:0000463	Anteverted nares	9841	ZBTB24	OMIM:614069
HP:0000463	Anteverted nares	51692	CPSF3	OMIM:619876
HP:0000463	Anteverted nares	3098	HK1	OMIM:618547
HP:0000463	Anteverted nares	79770	TXNDC15	OMIM:619879
HP:0000463	Anteverted nares	9091	PIGQ	OMIM:618548
HP:0000463	Anteverted nares	9091	PIGQ	ORPHA:1934
HP:0000463	Anteverted nares	285362	SUMF1	OMIM:272200
HP:0000463	Anteverted nares	285362	SUMF1	ORPHA:585
HP:0000463	Anteverted nares	26137	ZBTB20	OMIM:259050
HP:0000463	Anteverted nares	8314	BAP1	OMIM:619762
HP:0000463	Anteverted nares	7750	ZMYM2	OMIM:619522
HP:0000463	Anteverted nares	8733	GPAA1	ORPHA:529665
HP:0000463	Anteverted nares	8733	GPAA1	OMIM:617810
HP:0000463	Anteverted nares	253959	RALGAPA1	OMIM:618797
HP:0000463	Anteverted nares	53335	BCL11A	OMIM:617101
HP:0000463	Anteverted nares	4849	CNOT3	OMIM:618672
HP:0000463	Anteverted nares	4285	MIPEP	OMIM:617228
HP:0000463	Anteverted nares	9928	KIF14	OMIM:616258
HP:0000463	Anteverted nares	2263	FGFR2	OMIM:123790
HP:0000463	Anteverted nares	2263	FGFR2	OMIM:101200
HP:0000463	Anteverted nares	2263	FGFR2	ORPHA:1555
HP:0000463	Anteverted nares	9772	TMEM94	OMIM:618316
HP:0000463	Anteverted nares	25973	PARS2	OMIM:618437
HP:0000463	Anteverted nares	79971	WLS	OMIM:619648
HP:0000463	Anteverted nares	56975	FAM20C	ORPHA:1832
HP:0000463	Anteverted nares	2271	FH	OMIM:606812
HP:0000463	Anteverted nares	4208	MEF2C	ORPHA:228384
HP:0000463	Anteverted nares	4208	MEF2C	OMIM:613443
HP:0000463	Anteverted nares	5373	PMM2	ORPHA:79318
HP:0000463	Anteverted nares	23556	PIGN	OMIM:614080
HP:0000463	Anteverted nares	23556	PIGN	ORPHA:2059
HP:0000463	Anteverted nares	23556	PIGN	ORPHA:280633
HP:0000463	Anteverted nares	2239	GPC4	ORPHA:373
HP:0000463	Anteverted nares	2239	GPC4	OMIM:312870
HP:0000463	Anteverted nares	2719	GPC3	ORPHA:373
HP:0000463	Anteverted nares	2719	GPC3	OMIM:312870
HP:0000463	Anteverted nares	23007	PLCH1	OMIM:619895
HP:0000463	Anteverted nares	23162	MAPK8IP3	OMIM:618443
HP:0000463	Anteverted nares	54941	RNF125	OMIM:616260
HP:0000463	Anteverted nares	79989	IFT56	OMIM:619534
HP:0000463	Anteverted nares	259232	NALCN	OMIM:616266
HP:0000463	Anteverted nares	259232	NALCN	ORPHA:371364
HP:0000463	Anteverted nares	84168	ANTXR1	OMIM:230740
HP:0000463	Anteverted nares	84168	ANTXR1	ORPHA:2067
HP:0000463	Anteverted nares	25836	NIPBL	OMIM:122470
HP:0000463	Anteverted nares	25836	NIPBL	ORPHA:199
HP:0000463	Anteverted nares	2317	FLNB	OMIM:272460
HP:0000463	Anteverted nares	6513	SLC2A1	ORPHA:1942
HP:0000463	Anteverted nares	8831	SYNGAP1	ORPHA:1942
HP:0000463	Anteverted nares	1173	AP2M1	ORPHA:1942
HP:0000463	Anteverted nares	6323	SCN1A	ORPHA:1942
HP:0000463	Anteverted nares	1106	CHD2	ORPHA:1942
HP:0000463	Anteverted nares	6529	SLC6A1	ORPHA:1942
HP:0000463	Anteverted nares	9896	FIG4	OMIM:216340
HP:0000463	Anteverted nares	9896	FIG4	ORPHA:3472
HP:0000463	Anteverted nares	6595	SMARCA2	OMIM:601358
HP:0000463	Anteverted nares	6595	SMARCA2	ORPHA:3051
HP:0000463	Anteverted nares	6595	SMARCA2	OMIM:619293
HP:0000463	Anteverted nares	1387	CREBBP	OMIM:618332
HP:0000463	Anteverted nares	1387	CREBBP	ORPHA:592574
HP:0000463	Anteverted nares	8295	TRRAP	OMIM:618454
HP:0000463	Anteverted nares	5881	RAC3	OMIM:618577
HP:0000463	Anteverted nares	60529	ALX4	ORPHA:228390
HP:0000463	Anteverted nares	60529	ALX4	OMIM:613451
HP:0000463	Anteverted nares	9427	ECEL1	OMIM:615065
HP:0000463	Anteverted nares	5587	PRKD1	OMIM:617364
HP:0000463	Anteverted nares	51013	EXOSC1	OMIM:619304
HP:0000463	Anteverted nares	1642	DDB1	OMIM:619426
HP:0000463	Anteverted nares	27145	FILIP1	OMIM:620775
HP:0000463	Anteverted nares	6792	CDKL5	ORPHA:1934
HP:0000463	Anteverted nares	6792	CDKL5	OMIM:300672
HP:0000463	Anteverted nares	3736	KCNA1	ORPHA:1934
HP:0000463	Anteverted nares	140679	SLC32A1	ORPHA:1934
HP:0000463	Anteverted nares	2775	GNAO1	ORPHA:1934
HP:0000463	Anteverted nares	81603	TRIM8	ORPHA:1934
HP:0000463	Anteverted nares	2902	GRIN1	ORPHA:1934
HP:0000463	Anteverted nares	79751	SLC25A22	ORPHA:1934
HP:0000463	Anteverted nares	150094	SIK1	ORPHA:1934
HP:0000463	Anteverted nares	8573	CASK	ORPHA:1934
HP:0000463	Anteverted nares	23312	DMXL2	ORPHA:1934
HP:0000463	Anteverted nares	2917	GRM7	ORPHA:1934
HP:0000463	Anteverted nares	170302	ARX	ORPHA:1934
HP:0000463	Anteverted nares	11284	PNKP	ORPHA:1934
HP:0000463	Anteverted nares	6326	SCN2A	ORPHA:1934
HP:0000463	Anteverted nares	51227	PIGP	ORPHA:1934
HP:0000463	Anteverted nares	6324	SCN1B	ORPHA:1934
HP:0000463	Anteverted nares	4761	NEUROD2	ORPHA:1934
HP:0000463	Anteverted nares	389827	MYMK	OMIM:254940
HP:0000463	Anteverted nares	389827	MYMK	ORPHA:1358
HP:0000463	Anteverted nares	2737	GLI3	ORPHA:672
HP:0000463	Anteverted nares	2737	GLI3	OMIM:146510
HP:0000463	Anteverted nares	9361	LONP1	OMIM:600373
HP:0000463	Anteverted nares	9361	LONP1	ORPHA:1458
HP:0000463	Anteverted nares	5898	RALA	OMIM:619311
HP:0000463	Anteverted nares	23013	SPEN	OMIM:619312
HP:0000463	Anteverted nares	54517	PUS7	OMIM:618342
HP:0000463	Anteverted nares	10785	WDR4	OMIM:618347
HP:0000463	Anteverted nares	2653	GCSH	OMIM:620423
HP:0000463	Anteverted nares	79813	EHMT1	ORPHA:96147
HP:0000463	Anteverted nares	79813	EHMT1	OMIM:610253
HP:0000463	Anteverted nares	55315	SLC29A3	OMIM:602782
HP:0000463	Anteverted nares	55869	HDAC8	OMIM:300882
HP:0000463	Anteverted nares	55869	HDAC8	ORPHA:199
HP:0000463	Anteverted nares	2972	BRF1	ORPHA:444072
HP:0000463	Anteverted nares	29998	BICRA	OMIM:619325
HP:0000463	Anteverted nares	388015	RTL1	ORPHA:254528
HP:0000463	Anteverted nares	388015	RTL1	ORPHA:96184
HP:0000463	Anteverted nares	388015	RTL1	ORPHA:96334
HP:0000463	Anteverted nares	8788	DLK1	ORPHA:254528
HP:0000463	Anteverted nares	8788	DLK1	ORPHA:96184
HP:0000463	Anteverted nares	8788	DLK1	ORPHA:96334
HP:0000463	Anteverted nares	55384	MEG3	ORPHA:254528
HP:0000463	Anteverted nares	55384	MEG3	ORPHA:96184
HP:0000463	Anteverted nares	55384	MEG3	ORPHA:96334
HP:0000463	Anteverted nares	57520	HECW2	OMIM:617268
HP:0000463	Anteverted nares	23030	KDM4B	OMIM:619320
HP:0000463	Anteverted nares	6492	SIM1	ORPHA:171829
HP:0000463	Anteverted nares	23314	SATB2	ORPHA:251019
HP:0000463	Anteverted nares	23314	SATB2	OMIM:612313
HP:0000463	Anteverted nares	4081	MAB21L1	OMIM:618479
HP:0000463	Anteverted nares	4081	MAB21L1	ORPHA:495875
HP:0000463	Anteverted nares	8312	AXIN1	OMIM:620558
HP:0000463	Anteverted nares	9126	SMC3	OMIM:610759
HP:0000463	Anteverted nares	9126	SMC3	ORPHA:199
HP:0000463	Anteverted nares	79068	FTO	OMIM:612938
HP:0000463	Anteverted nares	473	RERE	ORPHA:494344
HP:0000463	Anteverted nares	473	RERE	OMIM:616975
HP:0000463	Anteverted nares	4784	NFIX	OMIM:602535
HP:0000463	Anteverted nares	4784	NFIX	ORPHA:561
HP:0000463	Anteverted nares	23221	RHOBTB2	OMIM:618004
HP:0000463	Anteverted nares	22930	RAB3GAP1	OMIM:600118
HP:0000463	Anteverted nares	22930	RAB3GAP1	ORPHA:2510
HP:0000463	Anteverted nares	6601	SMARCC2	OMIM:618362
HP:0000463	Anteverted nares	6601	SMARCC2	ORPHA:1465
HP:0000463	Anteverted nares	54496	PRMT7	OMIM:617157
HP:0000463	Anteverted nares	54496	PRMT7	ORPHA:464288
HP:0000463	Anteverted nares	92255	LMBRD2	OMIM:619694
HP:0000463	Anteverted nares	23476	BRD4	OMIM:620568
HP:0000463	Anteverted nares	23476	BRD4	ORPHA:199
HP:0000463	Anteverted nares	7965	AIMP2	OMIM:618006
HP:0000463	Anteverted nares	29920	PYCR2	ORPHA:481152
HP:0000463	Anteverted nares	29920	PYCR2	OMIM:616420
HP:0000463	Anteverted nares	1009	CDH11	OMIM:211380
HP:0000463	Anteverted nares	22827	PUF60	ORPHA:508488
HP:0000463	Anteverted nares	22827	PUF60	OMIM:615583
HP:0000463	Anteverted nares	2261	FGFR3	ORPHA:15
HP:0000463	Anteverted nares	80311	KLHL15	OMIM:300982
HP:0000463	Anteverted nares	6045	RNF2	OMIM:619460
HP:0000463	Anteverted nares	1781	DYNC1I2	OMIM:618492
HP:0000463	Anteverted nares	774	CACNA1B	OMIM:618497
HP:0000463	Anteverted nares	3977	LIFR	OMIM:601559
HP:0000463	Anteverted nares	5277	PIGA	OMIM:300868
HP:0000463	Anteverted nares	23384	SPECC1L	OMIM:145420
HP:0000463	Anteverted nares	5573	PRKAR1A	OMIM:101800
HP:0000463	Anteverted nares	5573	PRKAR1A	ORPHA:950
HP:0000463	Anteverted nares	9244	CRLF1	OMIM:272430
HP:0000463	Anteverted nares	9244	CRLF1	ORPHA:1545
HP:0000463	Anteverted nares	1974	EIF4A2	OMIM:620455
HP:0000463	Anteverted nares	9343	EFTUD2	OMIM:610536
HP:0000463	Anteverted nares	6874	TAF4	OMIM:620450
HP:0000463	Anteverted nares	6611	SMS	ORPHA:3063
HP:0000463	Anteverted nares	6611	SMS	OMIM:309583
HP:0000463	Anteverted nares	5281	PIGF	OMIM:619356
HP:0000463	Anteverted nares	5977	DPF2	OMIM:618027
HP:0000463	Anteverted nares	5977	DPF2	ORPHA:1465
HP:0000463	Anteverted nares	6711	SPTBN1	OMIM:619475
HP:0000463	Anteverted nares	80036	TRPM3	OMIM:620224
HP:0000463	Anteverted nares	4796	TONSL	OMIM:271510
HP:0000463	Anteverted nares	4796	TONSL	ORPHA:93357
HP:0000463	Anteverted nares	526	ATP6V1B2	ORPHA:79500
HP:0000463	Anteverted nares	57465	TBC1D24	ORPHA:79500
HP:0000463	Anteverted nares	57465	TBC1D24	OMIM:220500
HP:0000463	Anteverted nares	207	AKT1	ORPHA:744
HP:0000463	Anteverted nares	23405	DICER1	OMIM:618272
HP:0000463	Anteverted nares	136647	MPLKIP	OMIM:234050
HP:0000463	Anteverted nares	1457	CSNK2A1	OMIM:617062
HP:0000463	Anteverted nares	3636	INPPL1	OMIM:258480
HP:0000463	Anteverted nares	2077	ERF	OMIM:617180
HP:0000463	Anteverted nares	2571	GAD1	OMIM:619124
HP:0000463	Anteverted nares	285590	SH3PXD2B	OMIM:249420
HP:0000463	Anteverted nares	374879	ZNF699	OMIM:619488
HP:0000463	Anteverted nares	8567	MADD	OMIM:619005
HP:0000463	Anteverted nares	29123	ANKRD11	ORPHA:261250
HP:0000463	Anteverted nares	29123	ANKRD11	OMIM:148050
HP:0000463	Anteverted nares	29123	ANKRD11	ORPHA:2332
HP:0000463	Anteverted nares	10220	GDF11	OMIM:619122
HP:0000463	Anteverted nares	9508	ADAMTS3	OMIM:618154
HP:0000463	Anteverted nares	1654	DDX3X	OMIM:300958
HP:0000463	Anteverted nares	93587	TRMT10A	ORPHA:391408
HP:0000463	Anteverted nares	84919	PPP1R15B	ORPHA:391408
HP:0000463	Anteverted nares	2799	GNS	OMIM:252940
HP:0000463	Anteverted nares	9759	HDAC4	OMIM:600430
HP:0000463	Anteverted nares	9759	HDAC4	ORPHA:1001
HP:0000463	Anteverted nares	3090	HIC1	ORPHA:531
HP:0000463	Anteverted nares	5048	PAFAH1B1	ORPHA:531
HP:0000463	Anteverted nares	7531	YWHAE	ORPHA:531
HP:0000463	Anteverted nares	57020	VPS35L	OMIM:619135
HP:0000463	Anteverted nares	84231	TRAF7	OMIM:618164
HP:0000463	Anteverted nares	4781	NFIB	OMIM:618286
HP:0000463	Anteverted nares	3643	INSR	ORPHA:769
HP:0000463	Anteverted nares	84081	NSRP1	OMIM:620001
HP:0000463	Anteverted nares	7474	WNT5A	OMIM:180700
HP:0000463	Anteverted nares	7474	WNT5A	ORPHA:3107
HP:0000463	Anteverted nares	1795	DOCK3	OMIM:618292
HP:0000463	Anteverted nares	5965	RECQL	OMIM:620370
HP:0000463	Anteverted nares	129285	PPP1R21	OMIM:619383
HP:0000463	Anteverted nares	84842	HPDL	OMIM:619026
HP:0000463	Anteverted nares	90952	ESAM	OMIM:620371
HP:0000463	Anteverted nares	8085	KMT2D	OMIM:147920
HP:0000463	Anteverted nares	7403	KDM6A	OMIM:147920
HP:0000463	Anteverted nares	5144	PDE4D	ORPHA:950
HP:0000463	Anteverted nares	5144	PDE4D	OMIM:614613
HP:0000463	Anteverted nares	8243	SMC1A	OMIM:300590
HP:0000463	Anteverted nares	8243	SMC1A	OMIM:301044
HP:0000463	Anteverted nares	8243	SMC1A	ORPHA:199
HP:0000463	Anteverted nares	10128	LRPPRC	OMIM:220111
HP:0000463	Anteverted nares	158	ADSL	OMIM:103050
HP:0000463	Anteverted nares	158	ADSL	ORPHA:46
HP:0000463	Anteverted nares	9131	AIFM1	OMIM:300232
HP:0000463	Anteverted nares	9131	AIFM1	ORPHA:83629
HP:0000463	Anteverted nares	6309	SC5D	ORPHA:46059
HP:0000463	Anteverted nares	6309	SC5D	OMIM:607330
HP:0000463	Anteverted nares	55503	TRPV6	OMIM:618188
HP:0000463	Anteverted nares	5885	RAD21	OMIM:614701
HP:0000463	Anteverted nares	5885	RAD21	ORPHA:199
HP:0000463	Anteverted nares	652	BMP4	ORPHA:828
HP:0000463	Anteverted nares	673	BRAF	OMIM:115150
HP:0000463	Anteverted nares	673	BRAF	ORPHA:1340
HP:0000463	Anteverted nares	145173	B3GLCT	ORPHA:709
HP:0000463	Anteverted nares	4774	NFIA	OMIM:613735
HP:0000463	Anteverted nares	2629	GBA1	OMIM:608013
HP:0000463	Anteverted nares	2629	GBA1	ORPHA:85212
HP:0000463	Anteverted nares	4281	MID1	OMIM:300000
HP:0000463	Anteverted nares	4281	MID1	ORPHA:2745
HP:0000463	Anteverted nares	80232	WDR26	ORPHA:513456
HP:0000463	Anteverted nares	80232	WDR26	OMIM:617616
HP:0000463	Anteverted nares	8443	GNPAT	OMIM:222765
HP:0000463	Anteverted nares	89910	UBE3B	OMIM:244450
HP:0000463	Anteverted nares	51506	UFC1	OMIM:618076
HP:0000463	Anteverted nares	9442	MED27	OMIM:619286
HP:0000463	Anteverted nares	2314	FLII	ORPHA:819
HP:0000463	Anteverted nares	23096	IQSEC2	ORPHA:819
HP:0000463	Anteverted nares	10743	RAI1	ORPHA:819
HP:0000463	Anteverted nares	10522	DEAF1	ORPHA:819
HP:0000463	Anteverted nares	1717	DHCR7	ORPHA:818
HP:0000463	Anteverted nares	1717	DHCR7	OMIM:270400
HP:0000463	Anteverted nares	10225	CD96	OMIM:211750
HP:0000463	Anteverted nares	10225	CD96	ORPHA:1308
HP:0000463	Anteverted nares	9382	COG1	OMIM:611209
HP:0000463	Anteverted nares	6197	RPS6KA3	OMIM:303600
HP:0000463	Anteverted nares	6197	RPS6KA3	ORPHA:192
HP:0000463	Anteverted nares	56992	KIF15	ORPHA:261323
HP:0000463	Anteverted nares	64324	NSD1	OMIM:117550
HP:0000463	Anteverted nares	9739	SETD1A	OMIM:619056
HP:0000463	Anteverted nares	80204	FBXO11	OMIM:618089
HP:0000463	Anteverted nares	5119	CHMP1A	OMIM:614961
HP:0000463	Anteverted nares	93627	TBCK	OMIM:616900
HP:0000463	Anteverted nares	8289	ARID1A	OMIM:614607
HP:0000463	Anteverted nares	8289	ARID1A	ORPHA:1465
HP:0000463	Anteverted nares	2200	FBN1	ORPHA:969
HP:0000463	Anteverted nares	2200	FBN1	ORPHA:2462
HP:0000463	Anteverted nares	2200	FBN1	OMIM:102370
HP:0000463	Anteverted nares	4054	LTBP3	ORPHA:969
HP:0000463	Anteverted nares	4054	LTBP3	OMIM:617809
HP:0000463	Anteverted nares	546	ATRX	ORPHA:847
HP:0000463	Anteverted nares	546	ATRX	OMIM:309580
HP:0000463	Anteverted nares	546	ATRX	OMIM:301040
HP:0000463	Anteverted nares	6598	SMARCB1	OMIM:614608
HP:0000463	Anteverted nares	6598	SMARCB1	ORPHA:1465
HP:0000463	Anteverted nares	6597	SMARCA4	OMIM:614609
HP:0000463	Anteverted nares	6597	SMARCA4	ORPHA:1465
HP:0000463	Anteverted nares	55697	VAC14	ORPHA:3472
HP:0000463	Anteverted nares	26053	AUTS2	ORPHA:352490
HP:0000463	Anteverted nares	26053	AUTS2	OMIM:615834
HP:0000463	Anteverted nares	23036	ZNF292	OMIM:619188
HP:0000463	Anteverted nares	6885	MAP3K7	OMIM:157800
HP:0000463	Anteverted nares	1954	MEGF8	OMIM:614976
HP:0000463	Anteverted nares	124512	METTL23	OMIM:615942
HP:0000463	Anteverted nares	2752	GLUL	OMIM:610015
HP:0000463	Anteverted nares	25942	SIN3A	OMIM:613406
HP:0000463	Anteverted nares	3425	IDUA	OMIM:607014
HP:0000463	Anteverted nares	3425	IDUA	ORPHA:93473
HP:0000463	Anteverted nares	3265	HRAS	OMIM:218040
HP:0000463	Anteverted nares	3265	HRAS	OMIM:137550
HP:0000463	Anteverted nares	7025	NR2F1	ORPHA:401777
HP:0000463	Anteverted nares	7025	NR2F1	OMIM:615722
HP:0000463	Anteverted nares	5063	PAK3	OMIM:300558
HP:0000463	Anteverted nares	56006	SMG9	OMIM:616920
HP:0000463	Anteverted nares	1857	DVL3	ORPHA:3107
HP:0000463	Anteverted nares	1857	DVL3	OMIM:616894
HP:0000463	Anteverted nares	2535	FZD2	ORPHA:3107
HP:0000463	Anteverted nares	285175	UNC80	OMIM:616801
HP:0000463	Anteverted nares	285175	UNC80	ORPHA:371364
HP:0000463	Anteverted nares	3211	HOXB1	OMIM:614744
HP:0000463	Anteverted nares	54499	TMCO1	OMIM:213980
HP:0000463	Anteverted nares	9719	ADAMTSL2	OMIM:231050
HP:0000463	Anteverted nares	11128	POLR3A	OMIM:264090
HP:0000463	Anteverted nares	11128	POLR3A	ORPHA:3455
HP:0000463	Anteverted nares	55165	CEP55	OMIM:236500
HP:0000463	Anteverted nares	1280	COL2A1	OMIM:108300
HP:0000463	Anteverted nares	84992	PIGY	OMIM:616809
HP:0000463	Anteverted nares	5594	MAPK1	OMIM:619087
HP:0000463	Anteverted nares	471	ATIC	OMIM:608688
HP:0000463	Anteverted nares	2006	ELN	OMIM:194050
HP:0000463	Anteverted nares	51085	MLXIPL	OMIM:194050
HP:0000463	Anteverted nares	55691	FRMD4A	OMIM:616819
HP:0000463	Anteverted nares	55691	FRMD4A	ORPHA:466688
HP:0000463	Anteverted nares	63895	PIEZO2	OMIM:248700
HP:0000463	Anteverted nares	55670	PEX26	ORPHA:44
HP:0000463	Anteverted nares	5824	PEX19	ORPHA:44
HP:0000463	Anteverted nares	5828	PEX2	ORPHA:44
HP:0000463	Anteverted nares	8504	PEX3	ORPHA:44
HP:0000463	Anteverted nares	9409	PEX16	ORPHA:44
HP:0000463	Anteverted nares	5190	PEX6	ORPHA:44
HP:0000463	Anteverted nares	8799	PEX11B	ORPHA:44
HP:0000463	Anteverted nares	5193	PEX12	ORPHA:44
HP:0000463	Anteverted nares	5194	PEX13	ORPHA:44
HP:0000463	Anteverted nares	5194	PEX13	OMIM:614883
HP:0000463	Anteverted nares	5195	PEX14	ORPHA:44
HP:0000463	Anteverted nares	5192	PEX10	ORPHA:44
HP:0000463	Anteverted nares	9652	SKIC3	OMIM:222470
HP:0000463	Anteverted nares	1836	SLC26A2	ORPHA:93298
HP:0000463	Anteverted nares	9321	TRIP11	ORPHA:93299
HP:0000463	Anteverted nares	9321	TRIP11	OMIM:200600
HP:0000463	Anteverted nares	79791	FBXO31	OMIM:615979
HP:0000463	Anteverted nares	85440	DOCK7	OMIM:615859
HP:0000463	Anteverted nares	85440	DOCK7	ORPHA:411986
HP:0000463	Anteverted nares	701	BUB1B	OMIM:257300
HP:0000463	Anteverted nares	117581	TWIST2	ORPHA:920
HP:0000463	Anteverted nares	117581	TWIST2	ORPHA:1231
HP:0000463	Anteverted nares	117581	TWIST2	OMIM:209885
HP:0000463	Anteverted nares	55023	PHIP	ORPHA:589905
HP:0000463	Anteverted nares	55023	PHIP	OMIM:617991
HP:0000463	Anteverted nares	2703	GJA8	OMIM:612474
HP:0000463	Anteverted nares	2702	GJA5	OMIM:612474
HP:0000463	Anteverted nares	867	CBL	OMIM:613563
HP:0000463	Anteverted nares	51025	PAM16	OMIM:613320
HP:0000463	Anteverted nares	51053	GMNN	OMIM:616835
HP:0000463	Anteverted nares	2245	FGD1	ORPHA:915
HP:0000463	Anteverted nares	2245	FGD1	OMIM:305400
HP:0000463	Anteverted nares	10664	CTCF	OMIM:615502
HP:0000463	Anteverted nares	10664	CTCF	ORPHA:363611
HP:0000463	Anteverted nares	6497	SKI	ORPHA:2462
HP:0000463	Anteverted nares	6497	SKI	OMIM:182212
HP:0000463	Anteverted nares	6664	SOX11	OMIM:615866
HP:0000463	Anteverted nares	6664	SOX11	ORPHA:1465
HP:0000463	Anteverted nares	8216	LZTR1	OMIM:605275
HP:0000463	Anteverted nares	55906	ZC4H2	OMIM:301041
HP:0000463	Anteverted nares	55906	ZC4H2	OMIM:314580
HP:0000463	Anteverted nares	100151683	RNU4ATAC	OMIM:210710
HP:0000463	Anteverted nares	100151683	RNU4ATAC	OMIM:616651
HP:0000463	Anteverted nares	23394	ADNP	OMIM:615873
HP:0000463	Anteverted nares	1788	DNMT3A	OMIM:615879
HP:0000463	Anteverted nares	23028	KDM1A	OMIM:616728
HP:0000463	Anteverted nares	23028	KDM1A	ORPHA:477993
HP:0000463	Anteverted nares	5160	PDHA1	OMIM:312170
HP:0000463	Anteverted nares	84162	BLTP1	OMIM:617822
HP:0000463	Anteverted nares	3097	HIVEP2	OMIM:616977
HP:0000463	Anteverted nares	5339	PLEC	OMIM:612138
HP:0000463	Anteverted nares	3767	KCNJ11	ORPHA:79134
HP:0000463	Anteverted nares	79731	NARS2	ORPHA:79134
HP:0000463	Anteverted nares	6833	ABCC8	ORPHA:79134
HP:0000463	Anteverted nares	5053	PAH	ORPHA:2209
HP:0000463	Anteverted nares	101929726	MYMX	ORPHA:1358
HP:0000463	Anteverted nares	101929726	MYMX	OMIM:619941
HP:0000463	Anteverted nares	10265	IRX5	OMIM:611174
HP:0000463	Anteverted nares	6602	SMARCD1	ORPHA:1465
HP:0000463	Anteverted nares	57492	ARID1B	ORPHA:1465
HP:0000463	Anteverted nares	196528	ARID2	ORPHA:1465
HP:0000463	Anteverted nares	6605	SMARCE1	ORPHA:1465
HP:0000463	Anteverted nares	134701	RIPPLY2	ORPHA:2311
HP:0000463	Anteverted nares	10683	DLL3	ORPHA:2311
HP:0000463	Anteverted nares	3955	LFNG	ORPHA:2311
HP:0000463	Anteverted nares	84667	HES7	ORPHA:2311
HP:0000463	Anteverted nares	145873	MESP2	ORPHA:2311
HP:0000463	Anteverted nares	91137	SLC25A46	OMIM:616505
HP:0000463	Anteverted nares	5604	MAP2K1	ORPHA:1340
HP:0000463	Anteverted nares	5605	MAP2K2	ORPHA:1340
HP:0000463	Anteverted nares	57211	ADGRG6	OMIM:616503
HP:0000463	Anteverted nares	2248	FGF3	ORPHA:2791
HP:0000463	Anteverted nares	2138	EYA1	ORPHA:2792
HP:0000463	Anteverted nares	5075	PAX1	ORPHA:2792
HP:0000463	Anteverted nares	79583	TMEM231	ORPHA:2318
HP:0000463	Anteverted nares	51524	TMEM138	ORPHA:2318
HP:0000463	Anteverted nares	23090	ZNF423	ORPHA:2318
HP:0000463	Anteverted nares	80184	CEP290	ORPHA:2318
HP:0000463	Anteverted nares	51259	TMEM216	ORPHA:2318
HP:0000463	Anteverted nares	57545	CC2D2A	ORPHA:2318
HP:0000463	Anteverted nares	57545	CC2D2A	ORPHA:1454
HP:0000463	Anteverted nares	10943	MSL3	OMIM:301032
HP:0000463	Anteverted nares	5745	PTH1R	ORPHA:50945
HP:0000463	Anteverted nares	84342	COG8	OMIM:611182
HP:0000463	Anteverted nares	8985	PLOD3	OMIM:612394
HP:0000463	Anteverted nares	128637	TBC1D20	OMIM:615663
HP:0000463	Anteverted nares	128637	TBC1D20	ORPHA:2510
HP:0000463	Anteverted nares	175	AGA	OMIM:208400
HP:0000463	Anteverted nares	55210	ATAD3A	OMIM:618810
HP:0000463	Anteverted nares	9419	CRIPT	OMIM:615789
HP:0000463	Anteverted nares	6638	SNRPN	ORPHA:177907
HP:0000463	Anteverted nares	2313	FLI1	ORPHA:2308
HP:0000463	Anteverted nares	60	ACTB	OMIM:243310
HP:0000463	Anteverted nares	6878	TAF6	ORPHA:199
HP:0000463	Anteverted nares	10367	MICU1	OMIM:615673
HP:0000463	Anteverted nares	7204	TRIO	OMIM:618825
HP:0000463	Anteverted nares	1861	TOR1A	OMIM:618947
HP:0000463	Anteverted nares	4329	ALDH6A1	OMIM:614105
HP:0000463	Anteverted nares	5293	PIK3CD	ORPHA:221139
HP:0000463	Anteverted nares	90417	KNSTRN	ORPHA:221139
HP:0000463	Anteverted nares	8405	SPOP	OMIM:618829
HP:0000463	Anteverted nares	6925	TCF4	ORPHA:2896
HP:0000463	Anteverted nares	23545	ATP6V0A2	OMIM:219200
HP:0000463	Anteverted nares	23545	ATP6V0A2	ORPHA:357074
HP:0000463	Anteverted nares	23630	KCNE5	ORPHA:86818
HP:0000463	Anteverted nares	2182	ACSL4	ORPHA:86818
HP:0000463	Anteverted nares	9949	AMMECR1	ORPHA:86818
HP:0000463	Anteverted nares	284252	KCTD1	OMIM:181270
HP:0000463	Anteverted nares	4893	NRAS	OMIM:137550
HP:0000463	Anteverted nares	51124	IER3IP1	OMIM:614231
HP:0000463	Anteverted nares	6911	TBX6	ORPHA:1797
HP:0000463	Anteverted nares	202018	TAPT1	OMIM:616897
HP:0000463	Anteverted nares	1806	DPYD	ORPHA:1675
HP:0000463	Anteverted nares	3832	KIF11	ORPHA:2526
HP:0000463	Anteverted nares	3832	KIF11	OMIM:152950
HP:0000463	Anteverted nares	100506658	OCLN	OMIM:251290
HP:0000463	Anteverted nares	3756	KCNH1	ORPHA:420561
HP:0000463	Anteverted nares	126792	B3GALT6	ORPHA:536467
HP:0000463	Anteverted nares	5331	PLCB3	OMIM:618961
HP:0000463	Anteverted nares	9320	TRIP12	OMIM:617752
HP:0000463	Anteverted nares	523	ATP6V1A	ORPHA:357074
HP:0000463	Anteverted nares	529	ATP6V1E1	ORPHA:357074
HP:0000463	Anteverted nares	529	ATP6V1E1	OMIM:617402
HP:0000463	Anteverted nares	5879	RAC1	OMIM:617751
HP:0000463	Anteverted nares	5879	RAC1	ORPHA:500159
HP:0000463	Anteverted nares	26503	SLC17A5	OMIM:269920
HP:0000463	Anteverted nares	650	BMP2	OMIM:617877
HP:0000463	Anteverted nares	738	VPS51	OMIM:618606
HP:0000463	Anteverted nares	5449	POU1F1	OMIM:613038
HP:0000463	Anteverted nares	85378	TUBGCP6	ORPHA:2518
HP:0000463	Anteverted nares	27229	TUBGCP4	ORPHA:2518
HP:0000463	Anteverted nares	10733	PLK4	ORPHA:2518
HP:0000463	Anteverted nares	9939	RBM8A	OMIM:274000
HP:0000463	Anteverted nares	4848	CNOT2	OMIM:618608
HP:0000463	Anteverted nares	25782	RAB3GAP2	ORPHA:2510
HP:0000463	Anteverted nares	22931	RAB18	ORPHA:2510
HP:0000463	Anteverted nares	64131	XYLT1	ORPHA:1425
HP:0000463	Anteverted nares	124583	CANT1	ORPHA:1425
HP:0000463	Anteverted nares	23529	CLCF1	ORPHA:1545
HP:0000463	Anteverted nares	4204	MECP2	OMIM:300260
HP:0000463	Anteverted nares	57647	DHX37	OMIM:618731
HP:0000463	Anteverted nares	23404	EXOSC2	OMIM:617763
HP:0000463	Anteverted nares	672	BRCA1	OMIM:617883
HP:0000463	Anteverted nares	5087	PBX1	OMIM:617641
HP:0000463	Anteverted nares	92935	MARS2	OMIM:616430
HP:0000463	Anteverted nares	10082	GPC6	ORPHA:93329
HP:0000463	Anteverted nares	4858	NOVA2	OMIM:618859
HP:0000463	Anteverted nares	58499	ZNF462	OMIM:618619
HP:0001363	Craniosynostosis	7291	TWIST1	ORPHA:794
HP:0001363	Craniosynostosis	7291	TWIST1	OMIM:123100
HP:0001363	Craniosynostosis	7291	TWIST1	OMIM:180750
HP:0001363	Craniosynostosis	2263	FGFR2	ORPHA:794
HP:0001363	Craniosynostosis	2263	FGFR2	ORPHA:87
HP:0001363	Craniosynostosis	2263	FGFR2	ORPHA:1555
HP:0001363	Craniosynostosis	2263	FGFR2	OMIM:123790
HP:0001363	Craniosynostosis	2263	FGFR2	OMIM:123150
HP:0001363	Craniosynostosis	2263	FGFR2	OMIM:101200
HP:0001363	Craniosynostosis	2261	FGFR3	ORPHA:794
HP:0001363	Craniosynostosis	2261	FGFR3	OMIM:612247
HP:0001363	Craniosynostosis	2261	FGFR3	OMIM:146000
HP:0001363	Craniosynostosis	2137	EXTL3	ORPHA:508533
HP:0001363	Craniosynostosis	2137	EXTL3	OMIM:617425
HP:0001363	Craniosynostosis	4088	SMAD3	ORPHA:284984
HP:0001363	Craniosynostosis	4088	SMAD3	OMIM:613795
HP:0001363	Craniosynostosis	4088	SMAD3	ORPHA:60030
HP:0001363	Craniosynostosis	7528	YY1	ORPHA:506358
HP:0001363	Craniosynostosis	60529	ALX4	OMIM:613451
HP:0001363	Craniosynostosis	60529	ALX4	OMIM:615529
HP:0001363	Craniosynostosis	60529	ALX4	ORPHA:60015
HP:0001363	Craniosynostosis	64116	SLC39A8	OMIM:616721
HP:0001363	Craniosynostosis	64116	SLC39A8	ORPHA:468699
HP:0001363	Craniosynostosis	10312	TCIRG1	OMIM:259700
HP:0001363	Craniosynostosis	10312	TCIRG1	ORPHA:667
HP:0001363	Craniosynostosis	1947	EFNB1	ORPHA:1520
HP:0001363	Craniosynostosis	54973	INTS11	OMIM:620428
HP:0001363	Craniosynostosis	7355	SLC35A2	ORPHA:356961
HP:0001363	Craniosynostosis	57539	WDR35	OMIM:613610
HP:0001363	Craniosynostosis	57539	WDR35	ORPHA:1515
HP:0001363	Craniosynostosis	89970	RSPRY1	OMIM:616723
HP:0001363	Craniosynostosis	89970	RSPRY1	ORPHA:457395
HP:0001363	Craniosynostosis	7545	ZIC1	OMIM:616602
HP:0001363	Craniosynostosis	253738	EBF3	ORPHA:96148
HP:0001363	Craniosynostosis	26115	TANC2	OMIM:618906
HP:0001363	Craniosynostosis	64324	NSD1	ORPHA:821
HP:0001363	Craniosynostosis	10297	APC2	ORPHA:821
HP:0001363	Craniosynostosis	1186	CLCN7	ORPHA:667
HP:0001363	Craniosynostosis	29887	SNX10	ORPHA:667
HP:0001363	Craniosynostosis	8600	TNFSF11	ORPHA:667
HP:0001363	Craniosynostosis	5447	POR	ORPHA:95699
HP:0001363	Craniosynostosis	5447	POR	OMIM:201750
HP:0001363	Craniosynostosis	55593	OTUD5	OMIM:301056
HP:0001363	Craniosynostosis	3190	HNRNPK	ORPHA:453504
HP:0001363	Craniosynostosis	3190	HNRNPK	OMIM:616580
HP:0001363	Craniosynostosis	3190	HNRNPK	ORPHA:352665
HP:0001363	Craniosynostosis	4125	MAN2B1	ORPHA:309282
HP:0001363	Craniosynostosis	4774	NFIA	ORPHA:401986
HP:0001363	Craniosynostosis	249	ALPL	OMIM:241500
HP:0001363	Craniosynostosis	249	ALPL	OMIM:241510
HP:0001363	Craniosynostosis	91179	SCARF2	OMIM:600920
HP:0001363	Craniosynostosis	2737	GLI3	ORPHA:380
HP:0001363	Craniosynostosis	2737	GLI3	OMIM:175700
HP:0001363	Craniosynostosis	6651	SON	OMIM:617140
HP:0001363	Craniosynostosis	27245	AHDC1	ORPHA:412069
HP:0001363	Craniosynostosis	10157	AASS	ORPHA:2203
HP:0001363	Craniosynostosis	79158	GNPTAB	OMIM:252500
HP:0001363	Craniosynostosis	79158	GNPTAB	ORPHA:576
HP:0001363	Craniosynostosis	79158	GNPTAB	OMIM:252600
HP:0001363	Craniosynostosis	112752	IFT43	ORPHA:1515
HP:0001363	Craniosynostosis	51098	IFT52	ORPHA:1515
HP:0001363	Craniosynostosis	55764	IFT122	ORPHA:1515
HP:0001363	Craniosynostosis	57728	WDR19	ORPHA:1515
HP:0001363	Craniosynostosis	4784	NFIX	OMIM:602535
HP:0001363	Craniosynostosis	4784	NFIX	ORPHA:561
HP:0001363	Craniosynostosis	2316	FLNA	OMIM:305620
HP:0001363	Craniosynostosis	2316	FLNA	ORPHA:1826
HP:0001363	Craniosynostosis	284058	KANSL1	ORPHA:363958
HP:0001363	Craniosynostosis	284058	KANSL1	ORPHA:363965
HP:0001363	Craniosynostosis	4052	LTBP1	OMIM:619451
HP:0001363	Craniosynostosis	9739	SETD1A	OMIM:619056
HP:0001363	Craniosynostosis	25885	POLR1A	OMIM:616462
HP:0001363	Craniosynostosis	10265	IRX5	OMIM:611174
HP:0001363	Craniosynostosis	113189	CHST14	ORPHA:2953
HP:0001363	Craniosynostosis	29940	DSE	ORPHA:2953
HP:0001363	Craniosynostosis	6774	STAT3	ORPHA:2314
HP:0001363	Craniosynostosis	6774	STAT3	OMIM:147060
HP:0001363	Craniosynostosis	9968	MED12	ORPHA:93932
HP:0001363	Craniosynostosis	7994	KAT6A	ORPHA:457193
HP:0001363	Craniosynostosis	7994	KAT6A	OMIM:616268
HP:0001363	Craniosynostosis	3572	IL6ST	OMIM:618523
HP:0001363	Craniosynostosis	2260	FGFR1	OMIM:190440
HP:0001363	Craniosynostosis	2260	FGFR1	ORPHA:2645
HP:0001363	Craniosynostosis	2260	FGFR1	OMIM:123150
HP:0001363	Craniosynostosis	2260	FGFR1	OMIM:166250
HP:0001363	Craniosynostosis	2260	FGFR1	ORPHA:2117
HP:0001363	Craniosynostosis	2260	FGFR1	OMIM:615465
HP:0001363	Craniosynostosis	4091	SMAD6	OMIM:617439
HP:0001363	Craniosynostosis	81620	CDT1	ORPHA:2554
HP:0001363	Craniosynostosis	5000	ORC4	ORPHA:2554
HP:0001363	Craniosynostosis	23594	ORC6	ORPHA:2554
HP:0001363	Craniosynostosis	8318	CDC45	ORPHA:2554
HP:0001363	Craniosynostosis	8318	CDC45	OMIM:617063
HP:0001363	Craniosynostosis	990	CDC6	ORPHA:2554
HP:0001363	Craniosynostosis	4998	ORC1	ORPHA:2554
HP:0001363	Craniosynostosis	51053	GMNN	ORPHA:2554
HP:0001363	Craniosynostosis	9401	RECQL4	OMIM:218600
HP:0001363	Craniosynostosis	29968	PSAT1	ORPHA:284417
HP:0001363	Craniosynostosis	1009	CDH11	ORPHA:1299
HP:0001363	Craniosynostosis	1954	MEGF8	OMIM:614976
HP:0001363	Craniosynostosis	1954	MEGF8	ORPHA:65759
HP:0001363	Craniosynostosis	1028	CDKN1C	OMIM:614732
HP:0001363	Craniosynostosis	11193	WBP4	OMIM:620852
HP:0001363	Craniosynostosis	51715	RAB23	ORPHA:65759
HP:0001363	Craniosynostosis	2200	FBN1	OMIM:616914
HP:0001363	Craniosynostosis	2200	FBN1	ORPHA:2462
HP:0001363	Craniosynostosis	29980	DONSON	OMIM:251230
HP:0001363	Craniosynostosis	3981	LIG4	ORPHA:235
HP:0001363	Craniosynostosis	54888	NSUN2	ORPHA:235
HP:0001363	Craniosynostosis	11285	B4GALT7	OMIM:130070
HP:0001363	Craniosynostosis	5251	PHEX	ORPHA:89936
HP:0001363	Craniosynostosis	26038	CHD5	OMIM:619873
HP:0001363	Craniosynostosis	10664	CTCF	ORPHA:363611
HP:0001363	Craniosynostosis	149371	EXOC8	OMIM:619076
HP:0001363	Craniosynostosis	4041	LRP5	ORPHA:178377
HP:0001363	Craniosynostosis	51604	PIGT	ORPHA:369837
HP:0001363	Craniosynostosis	145173	B3GLCT	OMIM:261540
HP:0001363	Craniosynostosis	5530	PPP3CA	OMIM:618265
HP:0001363	Craniosynostosis	92002	CCNQ	OMIM:300707
HP:0001363	Craniosynostosis	29957	SLC25A24	OMIM:612289
HP:0001363	Craniosynostosis	9508	ADAMTS3	ORPHA:2136
HP:0001363	Craniosynostosis	147372	CCBE1	ORPHA:2136
HP:0001363	Craniosynostosis	79633	FAT4	ORPHA:2136
HP:0001363	Craniosynostosis	10283	CWC27	OMIM:250410
HP:0001363	Craniosynostosis	10283	CWC27	ORPHA:166035
HP:0001363	Craniosynostosis	81031	SLC2A10	ORPHA:3342
HP:0001363	Craniosynostosis	54499	TMCO1	OMIM:213980
HP:0001363	Craniosynostosis	25914	RTTN	ORPHA:468631
HP:0001363	Craniosynostosis	157570	ESCO2	ORPHA:3103
HP:0001363	Craniosynostosis	157570	ESCO2	OMIM:268300
HP:0001363	Craniosynostosis	2317	FLNB	ORPHA:503
HP:0001363	Craniosynostosis	207	AKT1	ORPHA:744
HP:0001363	Craniosynostosis	78989	COLEC11	OMIM:265050
HP:0001363	Craniosynostosis	78989	COLEC11	ORPHA:293843
HP:0001363	Craniosynostosis	4094	MAF	ORPHA:1272
HP:0001363	Craniosynostosis	374879	ZNF699	OMIM:619488
HP:0001363	Craniosynostosis	9702	CEP57	OMIM:614114
HP:0001363	Craniosynostosis	6608	SMO	ORPHA:1553
HP:0001363	Craniosynostosis	5500	PPP1CB	OMIM:617506
HP:0001363	Craniosynostosis	4488	MSX2	OMIM:604757
HP:0001363	Craniosynostosis	4488	MSX2	ORPHA:60015
HP:0001363	Craniosynostosis	6497	SKI	OMIM:182212
HP:0001363	Craniosynostosis	6497	SKI	ORPHA:2462
HP:0001363	Craniosynostosis	126792	B3GALT6	ORPHA:536467
HP:0001363	Craniosynostosis	4621	MYH3	OMIM:178110
HP:0001363	Craniosynostosis	1758	DMP1	ORPHA:289176
HP:0001363	Craniosynostosis	1758	DMP1	OMIM:241520
HP:0001363	Craniosynostosis	5167	ENPP1	ORPHA:289176
HP:0001363	Craniosynostosis	84231	TRAF7	OMIM:618164
HP:0001363	Craniosynostosis	7048	TGFBR2	OMIM:610168
HP:0001363	Craniosynostosis	7048	TGFBR2	ORPHA:60030
HP:0001363	Craniosynostosis	545	ATR	ORPHA:808
HP:0001363	Craniosynostosis	1062	CENPE	ORPHA:808
HP:0001363	Craniosynostosis	5116	PCNT	ORPHA:808
HP:0001363	Craniosynostosis	5932	RBBP8	ORPHA:808
HP:0001363	Craniosynostosis	79902	NUP85	ORPHA:808
HP:0001363	Craniosynostosis	84126	ATRIP	ORPHA:808
HP:0001363	Craniosynostosis	10293	TRAIP	ORPHA:808
HP:0001363	Craniosynostosis	1763	DNA2	ORPHA:808
HP:0001363	Craniosynostosis	22995	CEP152	ORPHA:808
HP:0001363	Craniosynostosis	10733	PLK4	ORPHA:808
HP:0001363	Craniosynostosis	5557	PRIM1	OMIM:620005
HP:0001363	Craniosynostosis	10584	COLEC10	ORPHA:293843
HP:0001363	Craniosynostosis	5648	MASP1	ORPHA:293843
HP:0001363	Craniosynostosis	6885	MAP3K7	ORPHA:1826
HP:0001363	Craniosynostosis	404672	GTF2H5	ORPHA:33364
HP:0001363	Craniosynostosis	833	CARS1	ORPHA:33364
HP:0001363	Craniosynostosis	2068	ERCC2	ORPHA:33364
HP:0001363	Craniosynostosis	7737	RNF113A	ORPHA:33364
HP:0001363	Craniosynostosis	136647	MPLKIP	ORPHA:33364
HP:0001363	Craniosynostosis	6897	TARS1	ORPHA:33364
HP:0001363	Craniosynostosis	16	AARS1	ORPHA:33364
HP:0001363	Craniosynostosis	2071	ERCC3	ORPHA:33364
HP:0001363	Craniosynostosis	2961	GTF2E2	ORPHA:33364
HP:0001363	Craniosynostosis	11011	TLK2	OMIM:618050
HP:0001363	Craniosynostosis	9469	CHST3	OMIM:245600
HP:0001363	Craniosynostosis	26229	B3GAT3	OMIM:245600
HP:0001363	Craniosynostosis	11133	KPTN	ORPHA:397612
HP:0001363	Craniosynostosis	25970	SH2B1	ORPHA:261197
HP:0001363	Craniosynostosis	9742	IFT140	OMIM:266920
HP:0001363	Craniosynostosis	7046	TGFBR1	ORPHA:60030
HP:0001363	Craniosynostosis	7046	TGFBR1	OMIM:609192
HP:0001363	Craniosynostosis	10526	IPO8	ORPHA:60030
HP:0001363	Craniosynostosis	7042	TGFB2	ORPHA:60030
HP:0001363	Craniosynostosis	7043	TGFB3	ORPHA:60030
HP:0001363	Craniosynostosis	4087	SMAD2	ORPHA:60030
HP:0001363	Craniosynostosis	10082	GPC6	ORPHA:93329
HP:0001363	Craniosynostosis	4281	MID1	ORPHA:2745
HP:0001363	Craniosynostosis	9990	SLC12A6	ORPHA:1496
HP:0001363	Craniosynostosis	56603	CYP26B1	OMIM:614416
HP:0001363	Craniosynostosis	3852	KRT5	ORPHA:79396
HP:0001363	Craniosynostosis	3861	KRT14	ORPHA:79396
HP:0001363	Craniosynostosis	8085	KMT2D	OMIM:147920
HP:0001363	Craniosynostosis	7403	KDM6A	OMIM:147920
HP:0001363	Craniosynostosis	10075	HUWE1	OMIM:309590
HP:0001363	Craniosynostosis	2077	ERF	OMIM:600775
HP:0001363	Craniosynostosis	5034	P4HB	OMIM:112240
HP:0001363	Craniosynostosis	3590	IL11RA	OMIM:614188
HP:0001363	Craniosynostosis	6949	TCOF1	OMIM:154500
HP:0001363	Craniosynostosis	1513	CTSK	ORPHA:763
HP:0001363	Craniosynostosis	267010	RNU12	OMIM:603116
HP:0001363	Craniosynostosis	267010	RNU12	ORPHA:85199
HP:0001363	Craniosynostosis	9871	SEC24D	OMIM:616294
HP:0001363	Craniosynostosis	54928	BPNT2	OMIM:614078
HP:0001363	Craniosynostosis	23384	SPECC1L	OMIM:145420
HP:0001363	Craniosynostosis	5422	POLA1	ORPHA:163976
HP:0001363	Craniosynostosis	5977	DPF2	OMIM:618027
HP:0001363	Craniosynostosis	80204	FBXO11	OMIM:618089
HP:0001363	Craniosynostosis	6938	TCF12	OMIM:615314
HP:0001363	Craniosynostosis	1801	DPH1	OMIM:616901
HP:0001363	Craniosynostosis	1801	DPH1	ORPHA:459061
HP:0001363	Craniosynostosis	1788	DNMT3A	OMIM:615879
HP:0001363	Craniosynostosis	3845	KRAS	OMIM:609942
HP:0001363	Craniosynostosis	526	ATP6V1B2	ORPHA:79500
HP:0001363	Craniosynostosis	57465	TBC1D24	ORPHA:79500
HP:0001363	Craniosynostosis	169792	GLIS3	OMIM:610199
HP:0001363	Craniosynostosis	1974	EIF4A2	OMIM:620455
HP:0001363	Craniosynostosis	1802	DPH2	ORPHA:459061
HP:0001363	Craniosynostosis	652	BMP4	OMIM:607932
HP:0001363	Craniosynostosis	57282	SLC4A10	OMIM:620746
HP:0001363	Craniosynostosis	153241	CEP120	OMIM:616300
HP:0001363	Craniosynostosis	84720	PIGO	OMIM:614749
HP:0001363	Craniosynostosis	9839	ZEB2	ORPHA:261537
HP:0001363	Craniosynostosis	9839	ZEB2	ORPHA:261552
HP:0001363	Craniosynostosis	222663	SCUBE3	OMIM:619184
HP:0001363	Craniosynostosis	8294	H4C9	OMIM:619951
HP:0001363	Craniosynostosis	5881	RAC3	OMIM:618577
HP:0001363	Craniosynostosis	1312	COMT	ORPHA:567
HP:0001363	Craniosynostosis	221037	JMJD1C	ORPHA:567
HP:0001363	Craniosynostosis	2812	GP1BB	ORPHA:567
HP:0001363	Craniosynostosis	6239	RREB1	ORPHA:567
HP:0001363	Craniosynostosis	6899	TBX1	ORPHA:567
HP:0001363	Craniosynostosis	7290	HIRA	ORPHA:567
HP:0001363	Craniosynostosis	9632	SEC24C	ORPHA:567
HP:0001363	Craniosynostosis	7353	UFD1	ORPHA:567
HP:0001363	Craniosynostosis	421	ARVCF	ORPHA:567
HP:0004493	Craniofacial hyperostosis	4038	LRP4	ORPHA:3152
HP:0004493	Craniofacial hyperostosis	50964	SOST	ORPHA:3152
HP:0004493	Craniofacial hyperostosis	50964	SOST	ORPHA:1513
HP:0004493	Craniofacial hyperostosis	50964	SOST	OMIM:122860
HP:0004493	Craniofacial hyperostosis	4041	LRP5	ORPHA:2790
HP:0004493	Craniofacial hyperostosis	6197	RPS6KA3	ORPHA:192
HP:0004493	Craniofacial hyperostosis	2778	GNAS	OMIM:174800
HP:0004493	Craniofacial hyperostosis	2697	GJA1	ORPHA:1522
HP:0004493	Craniofacial hyperostosis	56172	ANKH	ORPHA:1522
HP:0004493	Craniofacial hyperostosis	4854	NOTCH3	ORPHA:2789
HP:0004493	Craniofacial hyperostosis	10312	TCIRG1	ORPHA:1782
HP:0004493	Craniofacial hyperostosis	55315	SLC29A3	ORPHA:1782
HP:0004493	Craniofacial hyperostosis	8792	TNFRSF11A	ORPHA:1782
HP:0004493	Craniofacial hyperostosis	2260	FGFR1	ORPHA:2396
HP:0004493	Craniofacial hyperostosis	3845	KRAS	ORPHA:2396
HP:0004493	Craniofacial hyperostosis	2316	FLNA	ORPHA:2484
HP:0004493	Craniofacial hyperostosis	6916	TBXAS1	ORPHA:1802
HP:0004493	Craniofacial hyperostosis	121340	SP7	ORPHA:1513
HP:0004493	Craniofacial hyperostosis	4089	SMAD4	ORPHA:2588
HP:0004493	Craniofacial hyperostosis	2068	ERCC2	ORPHA:910
HP:0004493	Craniofacial hyperostosis	7507	XPA	ORPHA:910
HP:0004493	Craniofacial hyperostosis	2071	ERCC3	ORPHA:910
HP:0004493	Craniofacial hyperostosis	7508	XPC	ORPHA:910
HP:0004493	Craniofacial hyperostosis	1643	DDB2	ORPHA:910
HP:0004493	Craniofacial hyperostosis	2072	ERCC4	ORPHA:910
HP:0004493	Craniofacial hyperostosis	2073	ERCC5	ORPHA:910
HP:0004493	Craniofacial hyperostosis	207	AKT1	OMIM:176920
HP:0004493	Craniofacial hyperostosis	9791	PTDSS1	ORPHA:2658
HP:0004493	Craniofacial hyperostosis	139285	AMER1	ORPHA:2780
HP:0004491	Large posterior fontanelle	5626	PROP1	ORPHA:226307
HP:0004491	Large posterior fontanelle	89884	LHX4	ORPHA:226307
HP:0004491	Large posterior fontanelle	8022	LHX3	ORPHA:226307
HP:0004491	Large posterior fontanelle	5449	POU1F1	ORPHA:226307
HP:0004491	Large posterior fontanelle	8820	HESX1	ORPHA:226307
HP:0004491	Large posterior fontanelle	405753	DUOXA2	ORPHA:95716
HP:0004491	Large posterior fontanelle	6528	SLC5A5	ORPHA:95716
HP:0004491	Large posterior fontanelle	7038	TG	ORPHA:95716
HP:0004491	Large posterior fontanelle	7173	TPO	ORPHA:95716
HP:0004491	Large posterior fontanelle	389434	IYD	ORPHA:95716
HP:0004491	Large posterior fontanelle	50506	DUOX2	ORPHA:95716
HP:0004491	Large posterior fontanelle	55670	PEX26	OMIM:614872
HP:0004491	Large posterior fontanelle	267010	RNU12	ORPHA:85199
HP:0004491	Large posterior fontanelle	27152	INTU	OMIM:617925
HP:0004491	Large posterior fontanelle	7849	PAX8	OMIM:218700
HP:0004491	Large posterior fontanelle	7253	TSHR	ORPHA:90673
HP:0004491	Large posterior fontanelle	7252	TSHB	ORPHA:90674
HP:0004491	Large posterior fontanelle	8260	NAA10	OMIM:300855
HP:0004491	Large posterior fontanelle	2879	GPX4	OMIM:250220
HP:0004490	Calvarial hyperostosis	207	AKT1	OMIM:176920
HP:0004490	Calvarial hyperostosis	207	AKT1	ORPHA:744
HP:0004490	Calvarial hyperostosis	1277	COL1A1	ORPHA:1310
HP:0004490	Calvarial hyperostosis	1277	COL1A1	OMIM:114000
HP:0004490	Calvarial hyperostosis	5573	PRKAR1A	OMIM:101800
HP:0004490	Calvarial hyperostosis	3425	IDUA	OMIM:607014
HP:0004490	Calvarial hyperostosis	23516	SLC39A14	OMIM:144755
HP:0004490	Calvarial hyperostosis	84701	COX4I2	OMIM:612714
HP:0004490	Calvarial hyperostosis	3178	HNRNPA1	ORPHA:52430
HP:0004490	Calvarial hyperostosis	7415	VCP	ORPHA:52430
HP:0004490	Calvarial hyperostosis	3181	HNRNPA2B1	ORPHA:52430
HP:0004468	Anomalous tracheal cartilage	10682	EBP	ORPHA:35173
HP:0004468	Anomalous tracheal cartilage	6628	SNRPB	OMIM:117650
HP:0004468	Anomalous tracheal cartilage	2263	FGFR2	OMIM:101200
HP:0004468	Anomalous tracheal cartilage	2260	FGFR1	OMIM:101600
HP:0004467	Preauricular pit	8294	H4C9	OMIM:619951
HP:0004467	Preauricular pit	2138	EYA1	OMIM:113650
HP:0004467	Preauricular pit	2138	EYA1	ORPHA:107
HP:0004467	Preauricular pit	2138	EYA1	OMIM:602588
HP:0004467	Preauricular pit	2138	EYA1	ORPHA:52429
HP:0004467	Preauricular pit	2138	EYA1	ORPHA:2792
HP:0004467	Preauricular pit	2138	EYA1	OMIM:166780
HP:0004467	Preauricular pit	6495	SIX1	OMIM:113650
HP:0004467	Preauricular pit	6495	SIX1	ORPHA:107
HP:0004467	Preauricular pit	6495	SIX1	ORPHA:52429
HP:0004467	Preauricular pit	6495	SIX1	OMIM:605192
HP:0004467	Preauricular pit	6495	SIX1	OMIM:608389
HP:0004467	Preauricular pit	145173	B3GLCT	OMIM:261540
HP:0004467	Preauricular pit	145173	B3GLCT	ORPHA:709
HP:0004467	Preauricular pit	1909	EDNRA	OMIM:616367
HP:0004467	Preauricular pit	3098	HK1	OMIM:618547
HP:0004467	Preauricular pit	80036	TRPM3	OMIM:620224
HP:0004467	Preauricular pit	286	ANK1	ORPHA:251066
HP:0004467	Preauricular pit	8085	KMT2D	OMIM:620186
HP:0004467	Preauricular pit	8085	KMT2D	OMIM:147920
HP:0004467	Preauricular pit	147912	SIX5	ORPHA:107
HP:0004467	Preauricular pit	145258	GSC	OMIM:602471
HP:0004467	Preauricular pit	2702	GJA5	ORPHA:3303
HP:0004467	Preauricular pit	1482	NKX2-5	ORPHA:3303
HP:0004467	Preauricular pit	1482	NKX2-5	OMIM:187500
HP:0004467	Preauricular pit	137814	NKX2-6	ORPHA:3303
HP:0004467	Preauricular pit	23414	ZFPM2	ORPHA:3303
HP:0004467	Preauricular pit	23414	ZFPM2	OMIM:187500
HP:0004467	Preauricular pit	2626	GATA4	ORPHA:3303
HP:0004467	Preauricular pit	2626	GATA4	OMIM:187500
HP:0004467	Preauricular pit	3791	KDR	ORPHA:3303
HP:0004467	Preauricular pit	2627	GATA6	ORPHA:3303
HP:0004467	Preauricular pit	2627	GATA6	OMIM:187500
HP:0004467	Preauricular pit	2657	GDF1	ORPHA:3303
HP:0004467	Preauricular pit	182	JAG1	ORPHA:3303
HP:0004467	Preauricular pit	182	JAG1	OMIM:187500
HP:0004467	Preauricular pit	6899	TBX1	ORPHA:3303
HP:0004467	Preauricular pit	6899	TBX1	OMIM:187500
HP:0004467	Preauricular pit	140628	GATA5	ORPHA:3303
HP:0004467	Preauricular pit	2324	FLT4	ORPHA:3303
HP:0004467	Preauricular pit	10370	CITED2	ORPHA:3303
HP:0004467	Preauricular pit	3190	HNRNPK	ORPHA:453504
HP:0004467	Preauricular pit	3190	HNRNPK	ORPHA:352665
HP:0004467	Preauricular pit	23405	DICER1	OMIM:618272
HP:0004467	Preauricular pit	6299	SALL1	OMIM:107480
HP:0004467	Preauricular pit	51715	RAB23	OMIM:201000
HP:0004467	Preauricular pit	27031	NPHP3	OMIM:208540
HP:0004467	Preauricular pit	5075	PAX1	OMIM:615560
HP:0004467	Preauricular pit	5075	PAX1	ORPHA:2792
HP:0004467	Preauricular pit	473	RERE	OMIM:616975
HP:0004467	Preauricular pit	2263	FGFR2	OMIM:123790
HP:0004467	Preauricular pit	5500	PPP1CB	OMIM:617506
HP:0004467	Preauricular pit	4286	MITF	OMIM:617306
HP:0004467	Preauricular pit	23384	SPECC1L	ORPHA:1519
HP:0004467	Preauricular pit	23384	SPECC1L	OMIM:145420
HP:0004467	Preauricular pit	9968	MED12	OMIM:301068
HP:0004467	Preauricular pit	10735	STAG2	OMIM:301022
HP:0004467	Preauricular pit	80204	FBXO11	OMIM:618089
HP:0004467	Preauricular pit	2316	FLNA	ORPHA:88630
HP:0004467	Preauricular pit	7994	KAT6A	ORPHA:457193
HP:0004467	Preauricular pit	3759	KCNJ2	OMIM:170390
HP:0004467	Preauricular pit	51082	POLR1D	OMIM:613717
HP:0004467	Preauricular pit	7020	TFAP2A	OMIM:113620
HP:0004467	Preauricular pit	7020	TFAP2A	ORPHA:1297
HP:0004467	Preauricular pit	10815	CPLX1	ORPHA:280
HP:0004467	Preauricular pit	10815	CPLX1	OMIM:194190
HP:0004467	Preauricular pit	54872	PIGG	ORPHA:280
HP:0004467	Preauricular pit	7469	NELFA	ORPHA:280
HP:0004467	Preauricular pit	1487	CTBP1	ORPHA:280
HP:0004467	Preauricular pit	1487	CTBP1	OMIM:194190
HP:0004467	Preauricular pit	3954	LETM1	ORPHA:280
HP:0004467	Preauricular pit	3954	LETM1	OMIM:194190
HP:0004467	Preauricular pit	7468	NSD2	ORPHA:280
HP:0004467	Preauricular pit	7468	NSD2	OMIM:194190
HP:0004467	Preauricular pit	9451	EIF2AK3	OMIM:226980
HP:0004467	Preauricular pit	4281	MID1	ORPHA:2745
HP:0004467	Preauricular pit	51729	WBP11	OMIM:619227
HP:0004467	Preauricular pit	7319	UBE2A	ORPHA:163956
HP:0004467	Preauricular pit	2719	GPC3	OMIM:312870
HP:0004467	Preauricular pit	2239	GPC4	OMIM:312870
HP:0004467	Preauricular pit	64132	XYLT2	ORPHA:85194
HP:0004467	Preauricular pit	53834	FGFRL1	OMIM:194190
HP:0004467	Preauricular pit	78987	CRELD1	OMIM:620771
HP:0004467	Preauricular pit	58499	ZNF462	OMIM:618619
HP:0004467	Preauricular pit	7403	KDM6A	OMIM:147920
HP:0004466	Delayed brainstem auditory evoked response conduction time	79628	SH3TC2	OMIM:601596
HP:0004466	Delayed brainstem auditory evoked response conduction time	2581	GALC	ORPHA:206443
HP:0004466	Delayed brainstem auditory evoked response conduction time	2581	GALC	ORPHA:206448
HP:0004466	Delayed brainstem auditory evoked response conduction time	2581	GALC	ORPHA:206436
HP:0004466	Delayed brainstem auditory evoked response conduction time	84668	HYCC1	OMIM:610532
HP:0004466	Delayed brainstem auditory evoked response conduction time	5660	PSAP	ORPHA:206436
HP:0004466	Delayed brainstem auditory evoked response conduction time	51501	HIKESHI	OMIM:616881
HP:0000377	Abnormal pinna morphology	8294	H4C9	OMIM:619951
HP:0000377	Abnormal pinna morphology	2304	FOXE1	OMIM:241850
HP:0000377	Abnormal pinna morphology	9853	RUSC2	OMIM:617773
HP:0000377	Abnormal pinna morphology	6659	SOX4	OMIM:618506
HP:0000377	Abnormal pinna morphology	51126	NAA20	OMIM:619717
HP:0000377	Abnormal pinna morphology	10973	ASCC3	OMIM:620700
HP:0000377	Abnormal pinna morphology	4897	NRCAM	OMIM:619833
HP:0000377	Abnormal pinna morphology	79848	CSPP1	ORPHA:397715
HP:0000377	Abnormal pinna morphology	79848	CSPP1	ORPHA:564
HP:0000377	Abnormal pinna morphology	9786	KIAA0586	ORPHA:397715
HP:0000377	Abnormal pinna morphology	3020	H3-3A	OMIM:619720
HP:0000377	Abnormal pinna morphology	80816	ASXL3	OMIM:615485
HP:0000377	Abnormal pinna morphology	23322	RPGRIP1L	ORPHA:220497
HP:0000377	Abnormal pinna morphology	23322	RPGRIP1L	ORPHA:564
HP:0000377	Abnormal pinna morphology	65062	TMEM237	ORPHA:220497
HP:0000377	Abnormal pinna morphology	65062	TMEM237	ORPHA:564
HP:0000377	Abnormal pinna morphology	65062	TMEM237	OMIM:614424
HP:0000377	Abnormal pinna morphology	65062	TMEM237	ORPHA:2318
HP:0000377	Abnormal pinna morphology	72	ACTG2	ORPHA:2604
HP:0000377	Abnormal pinna morphology	54806	AHI1	ORPHA:220493
HP:0000377	Abnormal pinna morphology	56623	INPP5E	ORPHA:220493
HP:0000377	Abnormal pinna morphology	95681	CEP41	ORPHA:220493
HP:0000377	Abnormal pinna morphology	129563	DIS3L2	ORPHA:2849
HP:0000377	Abnormal pinna morphology	4286	MITF	OMIM:617306
HP:0000377	Abnormal pinna morphology	29957	SLC25A24	ORPHA:2963
HP:0000377	Abnormal pinna morphology	29957	SLC25A24	OMIM:612289
HP:0000377	Abnormal pinna morphology	2590	GALNT2	OMIM:618885
HP:0000377	Abnormal pinna morphology	64359	NXN	OMIM:618529
HP:0000377	Abnormal pinna morphology	64359	NXN	ORPHA:1507
HP:0000377	Abnormal pinna morphology	56172	ANKH	OMIM:123000
HP:0000377	Abnormal pinna morphology	7994	KAT6A	ORPHA:457193
HP:0000377	Abnormal pinna morphology	7994	KAT6A	OMIM:616268
HP:0000377	Abnormal pinna morphology	4920	ROR2	ORPHA:1507
HP:0000377	Abnormal pinna morphology	4920	ROR2	OMIM:268310
HP:0000377	Abnormal pinna morphology	3339	HSPG2	ORPHA:1865
HP:0000377	Abnormal pinna morphology	3339	HSPG2	ORPHA:1606
HP:0000377	Abnormal pinna morphology	3339	HSPG2	OMIM:224410
HP:0000377	Abnormal pinna morphology	3339	HSPG2	ORPHA:800
HP:0000377	Abnormal pinna morphology	9401	RECQL4	OMIM:218600
HP:0000377	Abnormal pinna morphology	171023	ASXL1	ORPHA:97297
HP:0000377	Abnormal pinna morphology	171023	ASXL1	OMIM:605039
HP:0000377	Abnormal pinna morphology	54872	PIGG	ORPHA:280
HP:0000377	Abnormal pinna morphology	7469	NELFA	ORPHA:280
HP:0000377	Abnormal pinna morphology	1501	CTNND2	ORPHA:281
HP:0000377	Abnormal pinna morphology	9037	SEMA5A	ORPHA:281
HP:0000377	Abnormal pinna morphology	55012	PPP2R3C	OMIM:618419
HP:0000377	Abnormal pinna morphology	200734	SPRED2	OMIM:619745
HP:0000377	Abnormal pinna morphology	200734	SPRED2	ORPHA:648
HP:0000377	Abnormal pinna morphology	4929	NR4A2	ORPHA:1617
HP:0000377	Abnormal pinna morphology	10716	TBR1	ORPHA:1617
HP:0000377	Abnormal pinna morphology	8493	PPM1D	OMIM:617450
HP:0000377	Abnormal pinna morphology	23126	POGZ	OMIM:616364
HP:0000377	Abnormal pinna morphology	23126	POGZ	ORPHA:468678
HP:0000377	Abnormal pinna morphology	3572	IL6ST	OMIM:619750
HP:0000377	Abnormal pinna morphology	4613	MYCN	OMIM:620748
HP:0000377	Abnormal pinna morphology	4613	MYCN	OMIM:164280
HP:0000377	Abnormal pinna morphology	5590	PRKCZ	ORPHA:1606
HP:0000377	Abnormal pinna morphology	2563	GABRD	ORPHA:1606
HP:0000377	Abnormal pinna morphology	23013	SPEN	ORPHA:1606
HP:0000377	Abnormal pinna morphology	8510	MMP23B	ORPHA:1606
HP:0000377	Abnormal pinna morphology	7798	LUZP1	ORPHA:1606
HP:0000377	Abnormal pinna morphology	10630	PDPN	ORPHA:1606
HP:0000377	Abnormal pinna morphology	10277	UBE4B	ORPHA:1606
HP:0000377	Abnormal pinna morphology	8514	KCNAB2	ORPHA:1606
HP:0000377	Abnormal pinna morphology	63976	PRDM16	ORPHA:1606
HP:0000377	Abnormal pinna morphology	54897	CASZ1	ORPHA:1606
HP:0000377	Abnormal pinna morphology	79796	ALG9	ORPHA:79328
HP:0000377	Abnormal pinna morphology	79796	ALG9	OMIM:263210
HP:0000377	Abnormal pinna morphology	7750	ZMYM2	OMIM:619522
HP:0000377	Abnormal pinna morphology	6942	TCF20	OMIM:618430
HP:0000377	Abnormal pinna morphology	9772	TMEM94	OMIM:618316
HP:0000377	Abnormal pinna morphology	7030	TFE3	OMIM:301066
HP:0000377	Abnormal pinna morphology	64919	BCL11B	OMIM:617237
HP:0000377	Abnormal pinna morphology	4087	SMAD2	OMIM:619657
HP:0000377	Abnormal pinna morphology	4733	DRG1	OMIM:620641
HP:0000377	Abnormal pinna morphology	257	ALX3	ORPHA:391474
HP:0000377	Abnormal pinna morphology	8295	TRRAP	OMIM:618454
HP:0000377	Abnormal pinna morphology	9742	IFT140	OMIM:266920
HP:0000377	Abnormal pinna morphology	8621	CDK13	OMIM:617360
HP:0000377	Abnormal pinna morphology	5426	POLE	OMIM:618336
HP:0000377	Abnormal pinna morphology	5081	PAX7	OMIM:618578
HP:0000377	Abnormal pinna morphology	5908	RAP1B	OMIM:620654
HP:0000377	Abnormal pinna morphology	164	AP1G1	OMIM:619548
HP:0000377	Abnormal pinna morphology	6654	SOS1	OMIM:610733
HP:0000377	Abnormal pinna morphology	6654	SOS1	ORPHA:648
HP:0000377	Abnormal pinna morphology	835	CASP2	OMIM:620653
HP:0000377	Abnormal pinna morphology	78987	CRELD1	OMIM:620771
HP:0000377	Abnormal pinna morphology	2879	GPX4	OMIM:250220
HP:0000377	Abnormal pinna morphology	84706	GPT2	OMIM:616281
HP:0000377	Abnormal pinna morphology	5898	RALA	OMIM:619311
HP:0000377	Abnormal pinna morphology	10466	COG5	ORPHA:263487
HP:0000377	Abnormal pinna morphology	6477	SIAH1	OMIM:619314
HP:0000377	Abnormal pinna morphology	4598	MVK	ORPHA:29
HP:0000377	Abnormal pinna morphology	4598	MVK	OMIM:610377
HP:0000377	Abnormal pinna morphology	50814	NSDHL	ORPHA:251383
HP:0000377	Abnormal pinna morphology	50814	NSDHL	OMIM:300831
HP:0000377	Abnormal pinna morphology	56945	MRPS22	OMIM:611719
HP:0000377	Abnormal pinna morphology	128869	PIGU	OMIM:618590
HP:0000377	Abnormal pinna morphology	5575	PRKAR1B	OMIM:619680
HP:0000377	Abnormal pinna morphology	7372	UMPS	ORPHA:30
HP:0000377	Abnormal pinna morphology	7707	ZNF148	OMIM:617260
HP:0000377	Abnormal pinna morphology	6647	SOD1	OMIM:618598
HP:0000377	Abnormal pinna morphology	388015	RTL1	ORPHA:254525
HP:0000377	Abnormal pinna morphology	388015	RTL1	ORPHA:96334
HP:0000377	Abnormal pinna morphology	8788	DLK1	ORPHA:254525
HP:0000377	Abnormal pinna morphology	8788	DLK1	ORPHA:96334
HP:0000377	Abnormal pinna morphology	55384	MEG3	ORPHA:254525
HP:0000377	Abnormal pinna morphology	55384	MEG3	ORPHA:96334
HP:0000377	Abnormal pinna morphology	23524	SRRM2	OMIM:620439
HP:0000377	Abnormal pinna morphology	176	ACAN	OMIM:612813
HP:0000377	Abnormal pinna morphology	176	ACAN	ORPHA:171866
HP:0000377	Abnormal pinna morphology	3039	HBA1	ORPHA:98791
HP:0000377	Abnormal pinna morphology	3040	HBA2	ORPHA:98791
HP:0000377	Abnormal pinna morphology	1009	CDH11	OMIM:211380
HP:0000377	Abnormal pinna morphology	5077	PAX3	OMIM:148820
HP:0000377	Abnormal pinna morphology	22827	PUF60	ORPHA:508488
HP:0000377	Abnormal pinna morphology	3265	HRAS	ORPHA:3071
HP:0000377	Abnormal pinna morphology	3265	HRAS	OMIM:218040
HP:0000377	Abnormal pinna morphology	84314	TMEM107	ORPHA:564
HP:0000377	Abnormal pinna morphology	26123	TCTN3	ORPHA:564
HP:0000377	Abnormal pinna morphology	26123	TCTN3	ORPHA:2753
HP:0000377	Abnormal pinna morphology	26123	TCTN3	ORPHA:2754
HP:0000377	Abnormal pinna morphology	79867	TCTN2	ORPHA:564
HP:0000377	Abnormal pinna morphology	79600	TCTN1	ORPHA:564
HP:0000377	Abnormal pinna morphology	57096	RPGRIP1	ORPHA:564
HP:0000377	Abnormal pinna morphology	51259	TMEM216	ORPHA:564
HP:0000377	Abnormal pinna morphology	51259	TMEM216	ORPHA:2318
HP:0000377	Abnormal pinna morphology	51259	TMEM216	ORPHA:2754
HP:0000377	Abnormal pinna morphology	57545	CC2D2A	ORPHA:564
HP:0000377	Abnormal pinna morphology	57545	CC2D2A	ORPHA:2318
HP:0000377	Abnormal pinna morphology	79583	TMEM231	ORPHA:564
HP:0000377	Abnormal pinna morphology	79583	TMEM231	ORPHA:2318
HP:0000377	Abnormal pinna morphology	79583	TMEM231	ORPHA:2754
HP:0000377	Abnormal pinna morphology	91147	TMEM67	ORPHA:564
HP:0000377	Abnormal pinna morphology	79770	TXNDC15	ORPHA:564
HP:0000377	Abnormal pinna morphology	27077	B9D1	ORPHA:564
HP:0000377	Abnormal pinna morphology	63931	MRPS14	OMIM:618378
HP:0000377	Abnormal pinna morphology	22808	MRAS	OMIM:618499
HP:0000377	Abnormal pinna morphology	22808	MRAS	ORPHA:648
HP:0000377	Abnormal pinna morphology	1822	ATN1	OMIM:618494
HP:0000377	Abnormal pinna morphology	5144	PDE4D	ORPHA:439822
HP:0000377	Abnormal pinna morphology	6304	SATB1	OMIM:619229
HP:0000377	Abnormal pinna morphology	23594	ORC6	OMIM:613803
HP:0000377	Abnormal pinna morphology	23594	ORC6	ORPHA:2554
HP:0000377	Abnormal pinna morphology	55605	KIF21A	ORPHA:994
HP:0000377	Abnormal pinna morphology	4927	NUP88	ORPHA:994
HP:0000377	Abnormal pinna morphology	4927	NUP88	OMIM:618393
HP:0000377	Abnormal pinna morphology	7846	TUBA1A	ORPHA:994
HP:0000377	Abnormal pinna morphology	4654	MYOD1	ORPHA:994
HP:0000377	Abnormal pinna morphology	54551	MAGEL2	ORPHA:994
HP:0000377	Abnormal pinna morphology	4593	MUSK	ORPHA:994
HP:0000377	Abnormal pinna morphology	4593	MUSK	OMIM:208150
HP:0000377	Abnormal pinna morphology	5913	RAPSN	ORPHA:994
HP:0000377	Abnormal pinna morphology	6572	SLC18A3	ORPHA:994
HP:0000377	Abnormal pinna morphology	285489	DOK7	ORPHA:994
HP:0000377	Abnormal pinna morphology	5396	PRRX1	ORPHA:990
HP:0000377	Abnormal pinna morphology	5015	OTX2	ORPHA:990
HP:0000377	Abnormal pinna morphology	9851	KIAA0753	OMIM:619476
HP:0000377	Abnormal pinna morphology	9851	KIAA0753	OMIM:619479
HP:0000377	Abnormal pinna morphology	9851	KIAA0753	ORPHA:2754
HP:0000377	Abnormal pinna morphology	8812	CCNK	OMIM:618147
HP:0000377	Abnormal pinna morphology	65250	CPLANE1	OMIM:277170
HP:0000377	Abnormal pinna morphology	65250	CPLANE1	ORPHA:2754
HP:0000377	Abnormal pinna morphology	94005	PIGS	OMIM:618143
HP:0000377	Abnormal pinna morphology	26005	C2CD3	ORPHA:434179
HP:0000377	Abnormal pinna morphology	26005	C2CD3	OMIM:615948
HP:0000377	Abnormal pinna morphology	5894	RAF1	ORPHA:500
HP:0000377	Abnormal pinna morphology	5894	RAF1	ORPHA:648
HP:0000377	Abnormal pinna morphology	84172	POLR1B	ORPHA:861
HP:0000377	Abnormal pinna morphology	9533	POLR1C	ORPHA:861
HP:0000377	Abnormal pinna morphology	51082	POLR1D	ORPHA:861
HP:0000377	Abnormal pinna morphology	3636	INPPL1	OMIM:258480
HP:0000377	Abnormal pinna morphology	8239	USP9X	OMIM:300968
HP:0000377	Abnormal pinna morphology	8239	USP9X	ORPHA:480880
HP:0000377	Abnormal pinna morphology	9373	PLAA	ORPHA:521426
HP:0000377	Abnormal pinna morphology	9373	PLAA	OMIM:617527
HP:0000377	Abnormal pinna morphology	64093	SMOC1	OMIM:206920
HP:0000377	Abnormal pinna morphology	64093	SMOC1	ORPHA:1106
HP:0000377	Abnormal pinna morphology	118924	FRA10AC1	OMIM:620113
HP:0000377	Abnormal pinna morphology	60	ACTB	OMIM:620475
HP:0000377	Abnormal pinna morphology	22800	RRAS2	ORPHA:648
HP:0000377	Abnormal pinna morphology	8216	LZTR1	ORPHA:648
HP:0000377	Abnormal pinna morphology	8216	LZTR1	OMIM:605275
HP:0000377	Abnormal pinna morphology	6016	RIT1	ORPHA:648
HP:0000377	Abnormal pinna morphology	6237	RRAS	ORPHA:648
HP:0000377	Abnormal pinna morphology	4893	NRAS	ORPHA:648
HP:0000377	Abnormal pinna morphology	4893	NRAS	OMIM:613224
HP:0000377	Abnormal pinna morphology	6655	SOS2	ORPHA:648
HP:0000377	Abnormal pinna morphology	5922	RASA2	ORPHA:648
HP:0000377	Abnormal pinna morphology	83737	ITCH	ORPHA:228426
HP:0000377	Abnormal pinna morphology	83737	ITCH	OMIM:613385
HP:0000377	Abnormal pinna morphology	7474	WNT5A	OMIM:180700
HP:0000377	Abnormal pinna morphology	7474	WNT5A	ORPHA:3107
HP:0000377	Abnormal pinna morphology	1855	DVL1	OMIM:180700
HP:0000377	Abnormal pinna morphology	1855	DVL1	ORPHA:3107
HP:0000377	Abnormal pinna morphology	3239	HOXD13	ORPHA:887
HP:0000377	Abnormal pinna morphology	11011	TLK2	OMIM:618050
HP:0000377	Abnormal pinna morphology	8665	EIF3F	OMIM:618295
HP:0000377	Abnormal pinna morphology	4921	DDR2	OMIM:618175
HP:0000377	Abnormal pinna morphology	25886	POC1A	OMIM:614813
HP:0000377	Abnormal pinna morphology	90952	ESAM	OMIM:620371
HP:0000377	Abnormal pinna morphology	161742	SPRED1	OMIM:611431
HP:0000377	Abnormal pinna morphology	4784	NFIX	ORPHA:447980
HP:0000377	Abnormal pinna morphology	4281	MID1	OMIM:300000
HP:0000377	Abnormal pinna morphology	4281	MID1	ORPHA:2745
HP:0000377	Abnormal pinna morphology	1717	DHCR7	ORPHA:818
HP:0000377	Abnormal pinna morphology	1717	DHCR7	OMIM:270400
HP:0000377	Abnormal pinna morphology	55780	ERMARD	ORPHA:75857
HP:0000377	Abnormal pinna morphology	10225	CD96	OMIM:211750
HP:0000377	Abnormal pinna morphology	10225	CD96	ORPHA:1308
HP:0000377	Abnormal pinna morphology	9382	COG1	OMIM:611209
HP:0000377	Abnormal pinna morphology	9382	COG1	ORPHA:263508
HP:0000377	Abnormal pinna morphology	5119	CHMP1A	OMIM:614961
HP:0000377	Abnormal pinna morphology	55858	TMEM165	OMIM:614727
HP:0000377	Abnormal pinna morphology	8546	AP3B1	OMIM:608233
HP:0000377	Abnormal pinna morphology	23116	TOGARAM1	OMIM:619185
HP:0000377	Abnormal pinna morphology	9184	BUB3	ORPHA:1052
HP:0000377	Abnormal pinna morphology	699	BUB1	ORPHA:1052
HP:0000377	Abnormal pinna morphology	9319	TRIP13	ORPHA:1052
HP:0000377	Abnormal pinna morphology	701	BUB1B	ORPHA:1052
HP:0000377	Abnormal pinna morphology	701	BUB1B	OMIM:257300
HP:0000377	Abnormal pinna morphology	23314	SATB2	OMIM:612313
HP:0000377	Abnormal pinna morphology	4036	LRP2	ORPHA:2143
HP:0000377	Abnormal pinna morphology	4036	LRP2	OMIM:222448
HP:0000377	Abnormal pinna morphology	6234	RPS28	OMIM:606164
HP:0000377	Abnormal pinna morphology	9653	HS2ST1	OMIM:619194
HP:0000377	Abnormal pinna morphology	2629	GBA1	ORPHA:85212
HP:0000377	Abnormal pinna morphology	56006	SMG9	OMIM:616920
HP:0000377	Abnormal pinna morphology	1857	DVL3	ORPHA:3107
HP:0000377	Abnormal pinna morphology	2535	FZD2	ORPHA:3107
HP:0000377	Abnormal pinna morphology	2535	FZD2	OMIM:164745
HP:0000377	Abnormal pinna morphology	6660	SOX5	OMIM:616803
HP:0000377	Abnormal pinna morphology	285175	UNC80	OMIM:616801
HP:0000377	Abnormal pinna morphology	285175	UNC80	ORPHA:371364
HP:0000377	Abnormal pinna morphology	3211	HOXB1	OMIM:614744
HP:0000377	Abnormal pinna morphology	54499	TMCO1	OMIM:213980
HP:0000377	Abnormal pinna morphology	54499	TMCO1	ORPHA:1394
HP:0000377	Abnormal pinna morphology	11128	POLR3A	OMIM:264090
HP:0000377	Abnormal pinna morphology	11128	POLR3A	ORPHA:3455
HP:0000377	Abnormal pinna morphology	8379	MAD1L1	OMIM:620189
HP:0000377	Abnormal pinna morphology	4094	MAF	ORPHA:1272
HP:0000377	Abnormal pinna morphology	4094	MAF	OMIM:601088
HP:0000377	Abnormal pinna morphology	6231	RPS26	OMIM:613309
HP:0000377	Abnormal pinna morphology	546	ATRX	OMIM:309580
HP:0000377	Abnormal pinna morphology	546	ATRX	OMIM:301040
HP:0000377	Abnormal pinna morphology	23483	TGDS	ORPHA:1388
HP:0000377	Abnormal pinna morphology	9939	RBM8A	ORPHA:3320
HP:0000377	Abnormal pinna morphology	51053	GMNN	OMIM:616835
HP:0000377	Abnormal pinna morphology	51053	GMNN	ORPHA:2554
HP:0000377	Abnormal pinna morphology	6664	SOX11	OMIM:615866
HP:0000377	Abnormal pinna morphology	196528	ARID2	OMIM:617808
HP:0000377	Abnormal pinna morphology	55906	ZC4H2	OMIM:301041
HP:0000377	Abnormal pinna morphology	2733	GLE1	ORPHA:1486
HP:0000377	Abnormal pinna morphology	8092	ALX1	OMIM:613456
HP:0000377	Abnormal pinna morphology	8092	ALX1	ORPHA:306542
HP:0000377	Abnormal pinna morphology	55593	OTUD5	OMIM:301056
HP:0000377	Abnormal pinna morphology	4854	NOTCH3	OMIM:130720
HP:0000377	Abnormal pinna morphology	4854	NOTCH3	ORPHA:2789
HP:0000377	Abnormal pinna morphology	5859	QARS1	OMIM:615760
HP:0000377	Abnormal pinna morphology	84162	BLTP1	OMIM:617822
HP:0000377	Abnormal pinna morphology	2782	GNB1	OMIM:616973
HP:0000377	Abnormal pinna morphology	998	CDC42	OMIM:616737
HP:0000377	Abnormal pinna morphology	998	CDC42	ORPHA:487796
HP:0000377	Abnormal pinna morphology	4131	MAP1B	OMIM:618918
HP:0000377	Abnormal pinna morphology	90161	HS6ST2	OMIM:301025
HP:0000377	Abnormal pinna morphology	134701	RIPPLY2	ORPHA:2311
HP:0000377	Abnormal pinna morphology	10683	DLL3	ORPHA:2311
HP:0000377	Abnormal pinna morphology	3955	LFNG	ORPHA:2311
HP:0000377	Abnormal pinna morphology	84667	HES7	ORPHA:2311
HP:0000377	Abnormal pinna morphology	145873	MESP2	ORPHA:2311
HP:0000377	Abnormal pinna morphology	51524	TMEM138	ORPHA:2318
HP:0000377	Abnormal pinna morphology	23090	ZNF423	ORPHA:2318
HP:0000377	Abnormal pinna morphology	81620	CDT1	ORPHA:2554
HP:0000377	Abnormal pinna morphology	8318	CDC45	ORPHA:2554
HP:0000377	Abnormal pinna morphology	990	CDC6	ORPHA:2554
HP:0000377	Abnormal pinna morphology	4998	ORC1	ORPHA:2554
HP:0000377	Abnormal pinna morphology	1000	CDH2	OMIM:618929
HP:0000377	Abnormal pinna morphology	139285	AMER1	ORPHA:2780
HP:0000377	Abnormal pinna morphology	139285	AMER1	OMIM:300373
HP:0000377	Abnormal pinna morphology	2313	FLI1	ORPHA:2308
HP:0000377	Abnormal pinna morphology	158326	FREM1	OMIM:608980
HP:0000377	Abnormal pinna morphology	6628	SNRPB	OMIM:117650
HP:0000377	Abnormal pinna morphology	8929	PHOX2B	OMIM:209880
HP:0000377	Abnormal pinna morphology	25914	RTTN	ORPHA:468631
HP:0000377	Abnormal pinna morphology	114928	GPRASP2	OMIM:301018
HP:0000377	Abnormal pinna morphology	202018	TAPT1	OMIM:616897
HP:0000377	Abnormal pinna morphology	28957	MRPS28	OMIM:618958
HP:0000377	Abnormal pinna morphology	2273	FHL1	OMIM:300280
HP:0000377	Abnormal pinna morphology	5495	PPM1B	ORPHA:163693
HP:0000377	Abnormal pinna morphology	6519	SLC3A1	ORPHA:163693
HP:0000377	Abnormal pinna morphology	9581	PREPL	ORPHA:163693
HP:0000377	Abnormal pinna morphology	79823	CAMKMT	ORPHA:163693
HP:0000377	Abnormal pinna morphology	1376	CPT2	OMIM:608836
HP:0000377	Abnormal pinna morphology	126792	B3GALT6	ORPHA:536467
HP:0000377	Abnormal pinna morphology	650	BMP2	OMIM:617877
HP:0000377	Abnormal pinna morphology	59341	TRPV4	ORPHA:2635
HP:0000377	Abnormal pinna morphology	8777	MPDZ	OMIM:615219
HP:0000377	Abnormal pinna morphology	5718	PSMD12	OMIM:617516
HP:0000377	Abnormal pinna morphology	170692	ADAMTS18	OMIM:615458
HP:0000377	Abnormal pinna morphology	9757	KMT2B	OMIM:619934
HP:0000377	Abnormal pinna morphology	1302	COL11A2	ORPHA:1427
HP:0000377	Abnormal pinna morphology	64131	XYLT1	ORPHA:1425
HP:0000377	Abnormal pinna morphology	124583	CANT1	ORPHA:1425
HP:0000377	Abnormal pinna morphology	55790	CSGALNACT1	ORPHA:1425
HP:0000377	Abnormal pinna morphology	10210	TOPORS	ORPHA:2754
HP:0000377	Abnormal pinna morphology	5147	PDE6D	ORPHA:2754
HP:0000377	Abnormal pinna morphology	8481	OFD1	ORPHA:2754
HP:0000377	Abnormal pinna morphology	317662	FAM149B1	ORPHA:2754
HP:0000377	Abnormal pinna morphology	29071	C1GALT1C1	OMIM:301110
HP:0000377	Abnormal pinna morphology	23404	EXOSC2	OMIM:617763
HP:0000377	Abnormal pinna morphology	10736	SIX2	ORPHA:488437
HP:0000377	Abnormal pinna morphology	10082	GPC6	ORPHA:93329
HP:0000377	Abnormal pinna morphology	6736	SRY	ORPHA:1772
HP:0000377	Abnormal pinna morphology	4247	MGAT2	ORPHA:79329
HP:0000377	Abnormal pinna morphology	1718	DHCR24	ORPHA:35107
HP:0000377	Abnormal pinna morphology	613	BCR	ORPHA:261330
HP:0000377	Abnormal pinna morphology	1399	CRKL	ORPHA:261330
HP:0000377	Abnormal pinna morphology	5594	MAPK1	ORPHA:261330
HP:0000377	Abnormal pinna morphology	57061	HYMAI	ORPHA:96191
HP:0000377	Abnormal pinna morphology	5325	PLAGL1	ORPHA:96191
HP:0000377	Abnormal pinna morphology	5879	RAC1	ORPHA:500159
HP:0000377	Abnormal pinna morphology	1062	CENPE	ORPHA:808
HP:0000377	Abnormal pinna morphology	5116	PCNT	ORPHA:808
HP:0000377	Abnormal pinna morphology	5932	RBBP8	ORPHA:808
HP:0000377	Abnormal pinna morphology	79902	NUP85	ORPHA:808
HP:0000377	Abnormal pinna morphology	84126	ATRIP	ORPHA:808
HP:0000377	Abnormal pinna morphology	10293	TRAIP	ORPHA:808
HP:0000377	Abnormal pinna morphology	1763	DNA2	ORPHA:808
HP:0000377	Abnormal pinna morphology	22995	CEP152	ORPHA:808
HP:0000377	Abnormal pinna morphology	10733	PLK4	ORPHA:808
HP:0000377	Abnormal pinna morphology	54539	NDUFB11	ORPHA:2556
HP:0000377	Abnormal pinna morphology	1349	COX7B	ORPHA:2556
HP:0000377	Abnormal pinna morphology	3052	HCCS	ORPHA:2556
HP:0000377	Abnormal pinna morphology	28981	IFT81	OMIM:617895
HP:0000377	Abnormal pinna morphology	6228	RPS23	OMIM:617412
HP:0000377	Abnormal pinna morphology	7360	UGP2	OMIM:618744
HP:0000377	Abnormal pinna morphology	5927	KDM5A	OMIM:620820
HP:0000377	Abnormal pinna morphology	51	ACOX1	ORPHA:2971
HP:0000377	Abnormal pinna morphology	51	ACOX1	OMIM:264470
HP:0000377	Abnormal pinna morphology	55209	SETD5	ORPHA:404440
HP:0000377	Abnormal pinna morphology	55209	SETD5	OMIM:615761
HP:0000377	Abnormal pinna morphology	6662	SOX9	ORPHA:140
HP:0000377	Abnormal pinna morphology	6662	SOX9	OMIM:114290
HP:0000377	Abnormal pinna morphology	2073	ERCC5	OMIM:616570
HP:0000377	Abnormal pinna morphology	9578	CDC42BPB	OMIM:619841
HP:0000377	Abnormal pinna morphology	8942	KYNU	OMIM:617661
HP:0000377	Abnormal pinna morphology	283489	CHAMP1	OMIM:616579
HP:0000377	Abnormal pinna morphology	10606	PAICS	OMIM:619859
HP:0000377	Abnormal pinna morphology	81857	MED25	ORPHA:464738
HP:0000377	Abnormal pinna morphology	81857	MED25	OMIM:616449
HP:0000377	Abnormal pinna morphology	55681	SCYL2	OMIM:618766
HP:0000377	Abnormal pinna morphology	857	CAV1	OMIM:606721
HP:0000377	Abnormal pinna morphology	64121	RRAGC	OMIM:620609
HP:0000377	Abnormal pinna morphology	11285	B4GALT7	OMIM:130070
HP:0000377	Abnormal pinna morphology	55768	NGLY1	OMIM:615273
HP:0000377	Abnormal pinna morphology	5593	PRKG2	OMIM:619636
HP:0000377	Abnormal pinna morphology	5979	RET	ORPHA:1848
HP:0000377	Abnormal pinna morphology	8516	ITGA8	ORPHA:1848
HP:0000377	Abnormal pinna morphology	8516	ITGA8	OMIM:191830
HP:0000377	Abnormal pinna morphology	26281	FGF20	ORPHA:1848
HP:0000377	Abnormal pinna morphology	2674	GFRA1	ORPHA:1848
HP:0000377	Abnormal pinna morphology	7484	WNT9B	ORPHA:1848
HP:0000377	Abnormal pinna morphology	80000	GREB1L	ORPHA:1848
HP:0000377	Abnormal pinna morphology	253959	RALGAPA1	OMIM:618797
HP:0000377	Abnormal pinna morphology	56098	PCDHGC4	OMIM:619880
HP:0000377	Abnormal pinna morphology	57688	ZSWIM6	OMIM:603671
HP:0000377	Abnormal pinna morphology	3930	LBR	OMIM:215140
HP:0000377	Abnormal pinna morphology	54916	TMEM260	OMIM:617478
HP:0000377	Abnormal pinna morphology	23499	MACF1	OMIM:618325
HP:0000377	Abnormal pinna morphology	6138	RPL15	ORPHA:124
HP:0000377	Abnormal pinna morphology	6224	RPS20	ORPHA:124
HP:0000377	Abnormal pinna morphology	6165	RPL35A	ORPHA:124
HP:0000377	Abnormal pinna morphology	6165	RPL35A	OMIM:612528
HP:0000377	Abnormal pinna morphology	6132	RPL8	ORPHA:124
HP:0000377	Abnormal pinna morphology	6223	RPS19	ORPHA:124
HP:0000377	Abnormal pinna morphology	6232	RPS27	ORPHA:124
HP:0000377	Abnormal pinna morphology	6160	RPL31	ORPHA:124
HP:0000377	Abnormal pinna morphology	6201	RPS7	ORPHA:124
HP:0000377	Abnormal pinna morphology	6155	RPL27	ORPHA:124
HP:0000377	Abnormal pinna morphology	6135	RPL11	ORPHA:124
HP:0000377	Abnormal pinna morphology	6229	RPS24	ORPHA:124
HP:0000377	Abnormal pinna morphology	6125	RPL5	ORPHA:124
HP:0000377	Abnormal pinna morphology	6204	RPS10	ORPHA:124
HP:0000377	Abnormal pinna morphology	2623	GATA1	ORPHA:124
HP:0000377	Abnormal pinna morphology	6133	RPL9	ORPHA:124
HP:0000377	Abnormal pinna morphology	11224	RPL35	ORPHA:124
HP:0000377	Abnormal pinna morphology	6218	RPS17	ORPHA:124
HP:0000377	Abnormal pinna morphology	6154	RPL26	ORPHA:124
HP:0000377	Abnormal pinna morphology	6210	RPS15A	ORPHA:124
HP:0000377	Abnormal pinna morphology	90121	TSR2	ORPHA:124
HP:0000377	Abnormal pinna morphology	6141	RPL18	ORPHA:124
HP:0000377	Abnormal pinna morphology	6235	RPS29	ORPHA:124
HP:0000377	Abnormal pinna morphology	51816	ADA2	ORPHA:124
HP:0000377	Abnormal pinna morphology	1917	EEF1A2	OMIM:616393
HP:0000377	Abnormal pinna morphology	60529	ALX4	ORPHA:228390
HP:0000377	Abnormal pinna morphology	60529	ALX4	OMIM:613451
HP:0000377	Abnormal pinna morphology	1523	CUX1	OMIM:618330
HP:0000377	Abnormal pinna morphology	4212	MEIS2	ORPHA:261190
HP:0000377	Abnormal pinna morphology	4212	MEIS2	OMIM:600987
HP:0000377	Abnormal pinna morphology	5910	RAP1GDS1	OMIM:620655
HP:0000377	Abnormal pinna morphology	51574	LARP7	OMIM:615071
HP:0000377	Abnormal pinna morphology	51574	LARP7	ORPHA:319671
HP:0000377	Abnormal pinna morphology	8473	OGT	OMIM:300997
HP:0000377	Abnormal pinna morphology	54973	INTS11	OMIM:620428
HP:0000377	Abnormal pinna morphology	4703	NEB	OMIM:256030
HP:0000377	Abnormal pinna morphology	4703	NEB	ORPHA:171433
HP:0000377	Abnormal pinna morphology	4703	NEB	ORPHA:171430
HP:0000377	Abnormal pinna morphology	2972	BRF1	ORPHA:444072
HP:0000377	Abnormal pinna morphology	2972	BRF1	OMIM:616202
HP:0000377	Abnormal pinna morphology	91754	NEK9	OMIM:617022
HP:0000377	Abnormal pinna morphology	5649	RELN	ORPHA:89844
HP:0000377	Abnormal pinna morphology	6492	SIM1	ORPHA:171829
HP:0000377	Abnormal pinna morphology	114803	MYSM1	OMIM:618116
HP:0000377	Abnormal pinna morphology	9675	TTI1	OMIM:620445
HP:0000377	Abnormal pinna morphology	11145	PLAAT3	OMIM:620683
HP:0000377	Abnormal pinna morphology	1312	COMT	ORPHA:567
HP:0000377	Abnormal pinna morphology	221037	JMJD1C	ORPHA:567
HP:0000377	Abnormal pinna morphology	2812	GP1BB	ORPHA:567
HP:0000377	Abnormal pinna morphology	6239	RREB1	ORPHA:567
HP:0000377	Abnormal pinna morphology	6899	TBX1	ORPHA:567
HP:0000377	Abnormal pinna morphology	6899	TBX1	OMIM:188400
HP:0000377	Abnormal pinna morphology	7290	HIRA	ORPHA:567
HP:0000377	Abnormal pinna morphology	9632	SEC24C	ORPHA:567
HP:0000377	Abnormal pinna morphology	7353	UFD1	ORPHA:567
HP:0000377	Abnormal pinna morphology	421	ARVCF	ORPHA:567
HP:0000377	Abnormal pinna morphology	23111	SPART	ORPHA:101000
HP:0000377	Abnormal pinna morphology	51729	WBP11	OMIM:619227
HP:0000377	Abnormal pinna morphology	79736	TEFM	OMIM:620451
HP:0000377	Abnormal pinna morphology	50801	KCNK4	OMIM:618381
HP:0000377	Abnormal pinna morphology	64840	PORCN	ORPHA:2092
HP:0000377	Abnormal pinna morphology	64840	PORCN	OMIM:305600
HP:0000377	Abnormal pinna morphology	8567	MADD	OMIM:619004
HP:0000377	Abnormal pinna morphology	91875	TTC5	OMIM:619244
HP:0000377	Abnormal pinna morphology	2799	GNS	OMIM:252940
HP:0000377	Abnormal pinna morphology	199221	DZIP1L	ORPHA:731
HP:0000377	Abnormal pinna morphology	5314	PKHD1	ORPHA:731
HP:0000377	Abnormal pinna morphology	403	ARL3	OMIM:618161
HP:0000377	Abnormal pinna morphology	403	ARL3	ORPHA:475
HP:0000377	Abnormal pinna morphology	84231	TRAF7	OMIM:618164
HP:0000377	Abnormal pinna morphology	89970	RSPRY1	ORPHA:457395
HP:0000377	Abnormal pinna morphology	89970	RSPRY1	OMIM:616723
HP:0000377	Abnormal pinna morphology	5557	PRIM1	OMIM:620005
HP:0000377	Abnormal pinna morphology	10020	GNE	ORPHA:3166
HP:0000377	Abnormal pinna morphology	10020	GNE	OMIM:269921
HP:0000377	Abnormal pinna morphology	9897	WASHC5	ORPHA:7
HP:0000377	Abnormal pinna morphology	9897	WASHC5	OMIM:220210
HP:0000377	Abnormal pinna morphology	28952	CCDC22	ORPHA:7
HP:0000377	Abnormal pinna morphology	57020	VPS35L	ORPHA:7
HP:0000377	Abnormal pinna morphology	51626	DYNC2LI1	OMIM:617088
HP:0000377	Abnormal pinna morphology	118429	ANTXR2	OMIM:228600
HP:0000377	Abnormal pinna morphology	168667	BMPER	OMIM:608022
HP:0000377	Abnormal pinna morphology	2294	FOXF1	OMIM:265380
HP:0000377	Abnormal pinna morphology	5393	EXOSC9	OMIM:618065
HP:0000377	Abnormal pinna morphology	51506	UFC1	OMIM:618076
HP:0000377	Abnormal pinna morphology	55788	LMBRD1	OMIM:277380
HP:0000377	Abnormal pinna morphology	26153	KIF26A	OMIM:620156
HP:0000377	Abnormal pinna morphology	56992	KIF15	ORPHA:261323
HP:0000377	Abnormal pinna morphology	1801	DPH1	OMIM:616901
HP:0000377	Abnormal pinna morphology	1801	DPH1	ORPHA:459061
HP:0000377	Abnormal pinna morphology	93627	TBCK	OMIM:616900
HP:0000377	Abnormal pinna morphology	1509	CTSD	OMIM:610127
HP:0000377	Abnormal pinna morphology	23325	WASHC4	OMIM:615817
HP:0000377	Abnormal pinna morphology	55148	UBR7	OMIM:619189
HP:0000377	Abnormal pinna morphology	23545	ATP6V0A2	OMIM:278250
HP:0000377	Abnormal pinna morphology	23545	ATP6V0A2	OMIM:219200
HP:0000377	Abnormal pinna morphology	23545	ATP6V0A2	ORPHA:2834
HP:0000377	Abnormal pinna morphology	23545	ATP6V0A2	ORPHA:357074
HP:0000377	Abnormal pinna morphology	1028	CDKN1C	OMIM:614732
HP:0000377	Abnormal pinna morphology	1028	CDKN1C	ORPHA:85173
HP:0000377	Abnormal pinna morphology	1028	CDKN1C	ORPHA:397590
HP:0000377	Abnormal pinna morphology	63894	VIPAS39	OMIM:613404
HP:0000377	Abnormal pinna morphology	83879	CDCA7	OMIM:616910
HP:0000377	Abnormal pinna morphology	83879	CDCA7	ORPHA:2268
HP:0000377	Abnormal pinna morphology	79053	ALG8	OMIM:608104
HP:0000377	Abnormal pinna morphology	79053	ALG8	ORPHA:79325
HP:0000377	Abnormal pinna morphology	54084	TSPEAR	OMIM:620173
HP:0000377	Abnormal pinna morphology	10801	SEPTIN9	OMIM:162100
HP:0000377	Abnormal pinna morphology	26053	AUTS2	OMIM:615834
HP:0000377	Abnormal pinna morphology	26053	AUTS2	ORPHA:352490
HP:0000377	Abnormal pinna morphology	10013	HDAC6	ORPHA:163966
HP:0000377	Abnormal pinna morphology	10013	HDAC6	OMIM:300863
HP:0000377	Abnormal pinna morphology	158	ADSL	ORPHA:46
HP:0000377	Abnormal pinna morphology	158	ADSL	OMIM:103050
HP:0000377	Abnormal pinna morphology	9652	SKIC3	OMIM:222470
HP:0000377	Abnormal pinna morphology	55835	CPAP	OMIM:613676
HP:0000377	Abnormal pinna morphology	64116	SLC39A8	ORPHA:468699
HP:0000377	Abnormal pinna morphology	3166	HMX1	OMIM:612109
HP:0000377	Abnormal pinna morphology	4208	MEF2C	OMIM:613443
HP:0000377	Abnormal pinna morphology	7407	VARS1	OMIM:617802
HP:0000377	Abnormal pinna morphology	10535	RNASEH2A	ORPHA:51
HP:0000377	Abnormal pinna morphology	10535	RNASEH2A	OMIM:610333
HP:0000377	Abnormal pinna morphology	84153	RNASEH2C	ORPHA:51
HP:0000377	Abnormal pinna morphology	25939	SAMHD1	ORPHA:51
HP:0000377	Abnormal pinna morphology	79621	RNASEH2B	ORPHA:51
HP:0000377	Abnormal pinna morphology	103	ADAR	ORPHA:51
HP:0000377	Abnormal pinna morphology	11277	TREX1	ORPHA:51
HP:0000377	Abnormal pinna morphology	100147744	RNU7-1	ORPHA:51
HP:0000377	Abnormal pinna morphology	134353	LSM11	ORPHA:51
HP:0000377	Abnormal pinna morphology	64135	IFIH1	ORPHA:51
HP:0000377	Abnormal pinna morphology	10159	ATP6AP2	OMIM:301045
HP:0000377	Abnormal pinna morphology	91949	COG7	OMIM:608779
HP:0000377	Abnormal pinna morphology	10735	STAG2	OMIM:301043
HP:0000377	Abnormal pinna morphology	10735	STAG2	OMIM:301022
HP:0000377	Abnormal pinna morphology	27238	GPKOW	ORPHA:2570
HP:0000377	Abnormal pinna morphology	22856	CHSY1	ORPHA:363417
HP:0000377	Abnormal pinna morphology	1305	COL13A1	OMIM:616720
HP:0000377	Abnormal pinna morphology	1305	COL13A1	ORPHA:98914
HP:0000377	Abnormal pinna morphology	83479	DDX59	OMIM:174300
HP:0000377	Abnormal pinna morphology	169792	GLIS3	OMIM:610199
HP:0000377	Abnormal pinna morphology	79644	SRD5A3	OMIM:612379
HP:0000377	Abnormal pinna morphology	7547	ZIC3	OMIM:306955
HP:0000377	Abnormal pinna morphology	57211	ADGRG6	OMIM:616503
HP:0000377	Abnormal pinna morphology	3759	KCNJ2	OMIM:170390
HP:0000377	Abnormal pinna morphology	3759	KCNJ2	ORPHA:37553
HP:0000377	Abnormal pinna morphology	5745	PTH1R	ORPHA:50945
HP:0000377	Abnormal pinna morphology	8985	PLOD3	OMIM:612394
HP:0000377	Abnormal pinna morphology	55969	RAB5IF	OMIM:616994
HP:0000377	Abnormal pinna morphology	4758	NEU1	ORPHA:93400
HP:0000377	Abnormal pinna morphology	4758	NEU1	ORPHA:93399
HP:0000377	Abnormal pinna morphology	9997	SCO2	OMIM:604377
HP:0000377	Abnormal pinna morphology	2517	FUCA1	OMIM:230000
HP:0000377	Abnormal pinna morphology	6182	MRPL12	OMIM:618951
HP:0000377	Abnormal pinna morphology	60482	SLC5A7	ORPHA:98914
HP:0000377	Abnormal pinna morphology	4649	MYO9A	ORPHA:98914
HP:0000377	Abnormal pinna morphology	1103	CHAT	ORPHA:98914
HP:0000377	Abnormal pinna morphology	6576	SLC25A1	ORPHA:98914
HP:0000377	Abnormal pinna morphology	6843	VAMP1	ORPHA:98914
HP:0000377	Abnormal pinna morphology	375790	AGRN	ORPHA:98914
HP:0000377	Abnormal pinna morphology	127833	SYT2	ORPHA:98914
HP:0000377	Abnormal pinna morphology	6616	SNAP25	ORPHA:98914
HP:0000377	Abnormal pinna morphology	84628	NTNG2	OMIM:618718
HP:0000377	Abnormal pinna morphology	9321	TRIP11	OMIM:200600
HP:0000377	Abnormal pinna morphology	4000	LMNA	ORPHA:1662
HP:0000377	Abnormal pinna morphology	10269	ZMPSTE24	ORPHA:1662
HP:0000377	Abnormal pinna morphology	10269	ZMPSTE24	OMIM:275210
HP:0000377	Abnormal pinna morphology	84700	MYO18B	OMIM:616549
HP:0000377	Abnormal pinna morphology	1146	CHRNG	ORPHA:2990
HP:0000377	Abnormal pinna morphology	1146	CHRNG	OMIM:265000
HP:0000377	Abnormal pinna morphology	1146	CHRNG	OMIM:253290
HP:0000377	Abnormal pinna morphology	7473	WNT3	OMIM:273395
HP:0000377	Abnormal pinna morphology	529	ATP6V1E1	OMIM:617402
HP:0000377	Abnormal pinna morphology	529	ATP6V1E1	ORPHA:357074
HP:0000377	Abnormal pinna morphology	84148	KAT8	OMIM:618974
HP:0000377	Abnormal pinna morphology	246329	STAC3	OMIM:255995
HP:0000377	Abnormal pinna morphology	3762	KCNJ5	ORPHA:37553
HP:0000377	Abnormal pinna morphology	10617	STAMBP	OMIM:614261
HP:0000377	Abnormal pinna morphology	8367	H4C5	OMIM:619950
HP:0000377	Abnormal pinna morphology	64220	STRA6	OMIM:601186
HP:0000377	Abnormal pinna morphology	64220	STRA6	ORPHA:2470
HP:0000377	Abnormal pinna morphology	65267	WNK3	OMIM:309610
HP:0000377	Abnormal pinna morphology	6536	SLC6A9	OMIM:617301
HP:0000377	Abnormal pinna morphology	28960	DCPS	OMIM:616459
HP:0000377	Abnormal pinna morphology	54	ACP5	OMIM:607944
HP:0000377	Abnormal pinna morphology	55870	ASH1L	OMIM:617796
HP:0000377	Abnormal pinna morphology	9698	PUM1	OMIM:620719
HP:0000377	Abnormal pinna morphology	9698	PUM1	OMIM:617931
HP:0000377	Abnormal pinna morphology	83871	RAB34	OMIM:620718
HP:0000377	Abnormal pinna morphology	4853	NOTCH2	OMIM:102500
HP:0000377	Abnormal pinna morphology	4853	NOTCH2	ORPHA:955
HP:0000377	Abnormal pinna morphology	10381	TUBB3	ORPHA:300570
HP:0000377	Abnormal pinna morphology	79184	BRCC3	ORPHA:280679
HP:0000377	Abnormal pinna morphology	54968	TMEM70	OMIM:614052
HP:0000377	Abnormal pinna morphology	54968	TMEM70	ORPHA:1194
HP:0000377	Abnormal pinna morphology	22884	WDR37	OMIM:618652
HP:0000377	Abnormal pinna morphology	1656	DDX6	OMIM:618653
HP:0000377	Abnormal pinna morphology	4297	KMT2A	ORPHA:319182
HP:0000377	Abnormal pinna morphology	4297	KMT2A	OMIM:605130
HP:0000377	Abnormal pinna morphology	4174	MCM5	OMIM:617564
HP:0000377	Abnormal pinna morphology	57178	ZMIZ1	OMIM:618659
HP:0000377	Abnormal pinna morphology	55623	THUMPD1	OMIM:619989
HP:0000377	Abnormal pinna morphology	79158	GNPTAB	OMIM:252600
HP:0000377	Abnormal pinna morphology	51684	SUFU	ORPHA:475
HP:0000377	Abnormal pinna morphology	200894	ARL13B	ORPHA:475
HP:0000377	Abnormal pinna morphology	9731	CEP104	ORPHA:475
HP:0000377	Abnormal pinna morphology	23247	KATNIP	ORPHA:475
HP:0000377	Abnormal pinna morphology	219854	TMEM218	ORPHA:475
HP:0000377	Abnormal pinna morphology	10464	PIBF1	ORPHA:475
HP:0000377	Abnormal pinna morphology	80210	ARMC9	ORPHA:475
HP:0000377	Abnormal pinna morphology	25776	CBY1	ORPHA:475
HP:0000377	Abnormal pinna morphology	1789	DNMT3B	OMIM:242860
HP:0000377	Abnormal pinna morphology	1789	DNMT3B	ORPHA:2268
HP:0000377	Abnormal pinna morphology	51604	PIGT	OMIM:615398
HP:0000377	Abnormal pinna morphology	51604	PIGT	ORPHA:369837
HP:0000377	Abnormal pinna morphology	7862	BRPF1	OMIM:617333
HP:0000377	Abnormal pinna morphology	5048	PAFAH1B1	ORPHA:217385
HP:0000377	Abnormal pinna morphology	7531	YWHAE	ORPHA:217385
HP:0000377	Abnormal pinna morphology	9681	DEPDC5	OMIM:620504
HP:0000377	Abnormal pinna morphology	1660	DHX9	OMIM:620988
HP:0000377	Abnormal pinna morphology	9841	ZBTB24	OMIM:614069
HP:0000377	Abnormal pinna morphology	9841	ZBTB24	ORPHA:2268
HP:0000377	Abnormal pinna morphology	8364	H4C3	OMIM:619758
HP:0000377	Abnormal pinna morphology	93986	FOXP2	ORPHA:251061
HP:0000377	Abnormal pinna morphology	8314	BAP1	OMIM:619762
HP:0000377	Abnormal pinna morphology	51098	IFT52	OMIM:617102
HP:0000377	Abnormal pinna morphology	4849	CNOT3	OMIM:618672
HP:0000377	Abnormal pinna morphology	9928	KIF14	OMIM:616258
HP:0000377	Abnormal pinna morphology	2542	SLC37A4	OMIM:619525
HP:0000377	Abnormal pinna morphology	2683	B4GALT1	ORPHA:79332
HP:0000377	Abnormal pinna morphology	57724	EPG5	OMIM:242840
HP:0000377	Abnormal pinna morphology	85365	ALG2	OMIM:607906
HP:0000377	Abnormal pinna morphology	1107	CHD3	OMIM:618205
HP:0000377	Abnormal pinna morphology	29929	ALG6	ORPHA:79320
HP:0000377	Abnormal pinna morphology	3658	IREB2	OMIM:618451
HP:0000377	Abnormal pinna morphology	29968	PSAT1	OMIM:616038
HP:0000377	Abnormal pinna morphology	221078	NSUN6	OMIM:620779
HP:0000377	Abnormal pinna morphology	11338	U2AF2	OMIM:620535
HP:0000377	Abnormal pinna morphology	1802	DPH2	ORPHA:459061
HP:0000377	Abnormal pinna morphology	1802	DPH2	OMIM:620062
HP:0000377	Abnormal pinna morphology	79903	NAA60	OMIM:620786
HP:0000377	Abnormal pinna morphology	170689	ADAMTS15	OMIM:620545
HP:0000377	Abnormal pinna morphology	5631	PRPS1	ORPHA:423479
HP:0000377	Abnormal pinna morphology	5631	PRPS1	OMIM:300661
HP:0000377	Abnormal pinna morphology	79868	ALG13	OMIM:300884
HP:0000377	Abnormal pinna morphology	2710	GK	OMIM:307030
HP:0000377	Abnormal pinna morphology	1725	DHPS	OMIM:618480
HP:0000377	Abnormal pinna morphology	57551	TAOK1	OMIM:619575
HP:0000377	Abnormal pinna morphology	1147	CHUK	OMIM:619339
HP:0000377	Abnormal pinna morphology	4141	MARS1	OMIM:620323
HP:0000377	Abnormal pinna morphology	9509	ADAMTS2	OMIM:225410
HP:0000377	Abnormal pinna morphology	26276	VPS33B	OMIM:208085
HP:0000377	Abnormal pinna morphology	10524	KAT5	OMIM:619103
HP:0000377	Abnormal pinna morphology	3977	LIFR	OMIM:601559
HP:0000377	Abnormal pinna morphology	9244	CRLF1	OMIM:272430
HP:0000377	Abnormal pinna morphology	340419	RSPO2	OMIM:618021
HP:0000377	Abnormal pinna morphology	57465	TBC1D24	ORPHA:79500
HP:0000377	Abnormal pinna morphology	57465	TBC1D24	OMIM:220500
HP:0000377	Abnormal pinna morphology	10653	SPINT2	OMIM:270420
HP:0000377	Abnormal pinna morphology	2571	GAD1	OMIM:619124
HP:0000377	Abnormal pinna morphology	1759	DNM1	OMIM:620352
HP:0000377	Abnormal pinna morphology	5528	PPP2R5D	ORPHA:457279
HP:0000377	Abnormal pinna morphology	3295	HSD17B4	OMIM:261515
HP:0000377	Abnormal pinna morphology	6329	SCN4A	OMIM:620369
HP:0000377	Abnormal pinna morphology	129285	PPP1R21	OMIM:619383
HP:0000377	Abnormal pinna morphology	221692	PHACTR1	OMIM:618298
HP:0000377	Abnormal pinna morphology	3480	IGF1R	OMIM:270450
HP:0000377	Abnormal pinna morphology	83483	PLVAP	OMIM:618183
HP:0000377	Abnormal pinna morphology	10128	LRPPRC	OMIM:220111
HP:0000377	Abnormal pinna morphology	9131	AIFM1	OMIM:300232
HP:0000377	Abnormal pinna morphology	8506	CNTNAP1	OMIM:618186
HP:0000377	Abnormal pinna morphology	55503	TRPV6	OMIM:618188
HP:0000377	Abnormal pinna morphology	775	CACNA1C	OMIM:620029
HP:0000377	Abnormal pinna morphology	8854	ALDH1A2	OMIM:620025
HP:0000377	Abnormal pinna morphology	10274	STAG1	ORPHA:502434
HP:0000377	Abnormal pinna morphology	4774	NFIA	OMIM:613735
HP:0000377	Abnormal pinna morphology	118987	PDZD8	OMIM:620021
HP:0000377	Abnormal pinna morphology	58	ACTA1	ORPHA:171433
HP:0000377	Abnormal pinna morphology	58	ACTA1	ORPHA:171430
HP:0000377	Abnormal pinna morphology	10324	KLHL41	ORPHA:171433
HP:0000377	Abnormal pinna morphology	10324	KLHL41	ORPHA:171430
HP:0000377	Abnormal pinna morphology	7170	TPM3	ORPHA:171433
HP:0000377	Abnormal pinna morphology	2317	FLNB	ORPHA:1190
HP:0000377	Abnormal pinna morphology	2317	FLNB	OMIM:108720
HP:0000377	Abnormal pinna morphology	9442	MED27	OMIM:619286
HP:0000377	Abnormal pinna morphology	131377	KLHL40	ORPHA:171430
HP:0000377	Abnormal pinna morphology	56203	LMOD3	ORPHA:171430
HP:0000377	Abnormal pinna morphology	22858	CILK1	OMIM:612651
HP:0000377	Abnormal pinna morphology	3899	AFF3	OMIM:619297
HP:0000377	Abnormal pinna morphology	9739	SETD1A	OMIM:619056
HP:0000377	Abnormal pinna morphology	55107	ANO1	OMIM:620045
HP:0000377	Abnormal pinna morphology	4524	MTHFR	ORPHA:563612
HP:0000377	Abnormal pinna morphology	57216	VANGL2	ORPHA:563612
HP:0000377	Abnormal pinna morphology	29128	UHRF1	ORPHA:2268
HP:0000377	Abnormal pinna morphology	3070	HELLS	ORPHA:2268
HP:0000377	Abnormal pinna morphology	10352	WARS2	ORPHA:572798
HP:0000377	Abnormal pinna morphology	51021	MRPS16	OMIM:610498
HP:0000377	Abnormal pinna morphology	2752	GLUL	OMIM:610015
HP:0000377	Abnormal pinna morphology	657	BMPR1A	ORPHA:79076
HP:0000377	Abnormal pinna morphology	23129	PLXND1	OMIM:620294
HP:0000377	Abnormal pinna morphology	23265	EXOC7	OMIM:619072
HP:0000377	Abnormal pinna morphology	55165	CEP55	OMIM:236500
HP:0000377	Abnormal pinna morphology	6558	SLC12A2	OMIM:619080
HP:0000377	Abnormal pinna morphology	4089	SMAD4	OMIM:139210
HP:0000377	Abnormal pinna morphology	5324	PLAG1	ORPHA:397590
HP:0000377	Abnormal pinna morphology	8091	HMGA2	ORPHA:397590
HP:0000377	Abnormal pinna morphology	5591	PRKDC	OMIM:615966
HP:0000377	Abnormal pinna morphology	471	ATIC	OMIM:608688
HP:0000377	Abnormal pinna morphology	471	ATIC	ORPHA:250977
HP:0000377	Abnormal pinna morphology	10430	TMEM147	OMIM:620075
HP:0000377	Abnormal pinna morphology	3187	HNRNPH1	OMIM:620083
HP:0000377	Abnormal pinna morphology	4677	NARS1	OMIM:619092
HP:0000377	Abnormal pinna morphology	7477	WNT7B	ORPHA:2470
HP:0000377	Abnormal pinna morphology	5915	RARB	ORPHA:2470
HP:0000377	Abnormal pinna morphology	667	DST	OMIM:614653
HP:0000377	Abnormal pinna morphology	51025	PAM16	OMIM:613320
HP:0000377	Abnormal pinna morphology	1144	CHRND	OMIM:253290
HP:0000377	Abnormal pinna morphology	6888	TALDO1	OMIM:606003
HP:0000377	Abnormal pinna morphology	79631	EFL1	OMIM:617941
HP:0000377	Abnormal pinna morphology	55784	MCTP2	ORPHA:1596
HP:0000377	Abnormal pinna morphology	51116	MRPS2	OMIM:617950
HP:0000377	Abnormal pinna morphology	10265	IRX5	OMIM:611174
HP:0000377	Abnormal pinna morphology	23511	NUP188	OMIM:618804
HP:0000377	Abnormal pinna morphology	7874	USP7	OMIM:616863
HP:0000377	Abnormal pinna morphology	1063	CENPF	OMIM:243605
HP:0000377	Abnormal pinna morphology	84342	COG8	OMIM:611182
HP:0000377	Abnormal pinna morphology	29980	DONSON	OMIM:251230
HP:0000377	Abnormal pinna morphology	490	ATP2B1	OMIM:619910
HP:0000377	Abnormal pinna morphology	100506658	OCLN	OMIM:251290
HP:0000377	Abnormal pinna morphology	9320	TRIP12	OMIM:617752
HP:0000377	Abnormal pinna morphology	4848	CNOT2	OMIM:618608
HP:0000377	Abnormal pinna morphology	9469	CHST3	OMIM:245600
HP:0000377	Abnormal pinna morphology	26229	B3GAT3	OMIM:245600
HP:0000377	Abnormal pinna morphology	5307	PITX1	OMIM:119800
HP:0000377	Abnormal pinna morphology	55331	ACER3	OMIM:617762
HP:0000377	Abnormal pinna morphology	92935	MARS2	OMIM:616430
HP:0000377	Abnormal pinna morphology	7291	TWIST1	ORPHA:794
HP:0000377	Abnormal pinna morphology	2263	FGFR2	ORPHA:794
HP:0000377	Abnormal pinna morphology	2263	FGFR2	OMIM:207410
HP:0000377	Abnormal pinna morphology	2263	FGFR2	ORPHA:2363
HP:0000377	Abnormal pinna morphology	2261	FGFR3	ORPHA:794
HP:0000377	Abnormal pinna morphology	2261	FGFR3	ORPHA:2363
HP:0000377	Abnormal pinna morphology	11160	ERLIN2	ORPHA:280384
HP:0000377	Abnormal pinna morphology	11160	ERLIN2	ORPHA:209951
HP:0000377	Abnormal pinna morphology	2074	ERCC6	OMIM:133540
HP:0000377	Abnormal pinna morphology	9488	PIGB	OMIM:618580
HP:0000377	Abnormal pinna morphology	8450	CUL4B	OMIM:300354
HP:0000377	Abnormal pinna morphology	341640	FREM2	ORPHA:2052
HP:0000377	Abnormal pinna morphology	80144	FRAS1	ORPHA:2052
HP:0000377	Abnormal pinna morphology	23426	GRIP1	ORPHA:2052
HP:0000377	Abnormal pinna morphology	10262	SF3B4	OMIM:154400
HP:0000377	Abnormal pinna morphology	1832	DSP	ORPHA:158687
HP:0000377	Abnormal pinna morphology	3728	JUP	ORPHA:158687
HP:0000377	Abnormal pinna morphology	123606	NIPA1	ORPHA:261183
HP:0000377	Abnormal pinna morphology	7283	TUBG1	ORPHA:261183
HP:0000377	Abnormal pinna morphology	81614	NIPA2	ORPHA:261183
HP:0000377	Abnormal pinna morphology	9780	PIEZO1	OMIM:616843
HP:0000377	Abnormal pinna morphology	51621	KLF13	OMIM:612001
HP:0000377	Abnormal pinna morphology	1139	CHRNA7	OMIM:612001
HP:0000377	Abnormal pinna morphology	10765	KDM5B	OMIM:618109
HP:0000377	Abnormal pinna morphology	6885	MAP3K7	OMIM:617137
HP:0000377	Abnormal pinna morphology	256297	PTF1A	OMIM:609069
HP:0000377	Abnormal pinna morphology	5447	POR	ORPHA:95699
HP:0000377	Abnormal pinna morphology	5447	POR	OMIM:207410
HP:0000377	Abnormal pinna morphology	10743	RAI1	ORPHA:477817
HP:0000377	Abnormal pinna morphology	3199	HOXA2	ORPHA:83463
HP:0000377	Abnormal pinna morphology	374654	KIF7	OMIM:200990
HP:0000377	Abnormal pinna morphology	89910	UBE3B	OMIM:244450
HP:0000377	Abnormal pinna morphology	4010	LMX1B	ORPHA:495818
HP:0000377	Abnormal pinna morphology	6812	STXBP1	ORPHA:495818
HP:0000377	Abnormal pinna morphology	1836	SLC26A2	ORPHA:93307
HP:0000377	Abnormal pinna morphology	6905	TBCE	ORPHA:2323
HP:0000377	Abnormal pinna morphology	30008	EFEMP2	OMIM:614437
HP:0000377	Abnormal pinna morphology	117581	TWIST2	ORPHA:1231
HP:0000377	Abnormal pinna morphology	1161	ERCC8	OMIM:216400
HP:0000377	Abnormal pinna morphology	55636	CHD7	ORPHA:138
HP:0000377	Abnormal pinna morphology	9723	SEMA3E	ORPHA:138
HP:0000377	Abnormal pinna morphology	271	AMPD2	OMIM:615809
HP:0000377	Abnormal pinna morphology	56975	FAM20C	OMIM:259775
HP:0000377	Abnormal pinna morphology	1491	CTH	ORPHA:212
HP:0000377	Abnormal pinna morphology	57492	ARID1B	OMIM:135900
HP:0000377	Abnormal pinna morphology	57492	ARID1B	ORPHA:251056
HP:0000377	Abnormal pinna morphology	10584	COLEC10	OMIM:248340
HP:0000377	Abnormal pinna morphology	10584	COLEC10	ORPHA:293843
HP:0000377	Abnormal pinna morphology	113189	CHST14	ORPHA:2953
HP:0000377	Abnormal pinna morphology	29940	DSE	ORPHA:2953
HP:0000377	Abnormal pinna morphology	9326	ZNHIT3	ORPHA:2836
HP:0000377	Abnormal pinna morphology	8289	ARID1A	OMIM:614607
HP:0000377	Abnormal pinna morphology	672	BRCA1	ORPHA:84
HP:0000377	Abnormal pinna morphology	10459	MAD2L2	ORPHA:84
HP:0000377	Abnormal pinna morphology	7516	XRCC2	ORPHA:84
HP:0000377	Abnormal pinna morphology	29089	UBE2T	ORPHA:84
HP:0000377	Abnormal pinna morphology	675	BRCA2	ORPHA:84
HP:0000377	Abnormal pinna morphology	55120	FANCL	ORPHA:84
HP:0000377	Abnormal pinna morphology	2177	FANCD2	ORPHA:84
HP:0000377	Abnormal pinna morphology	2175	FANCA	ORPHA:84
HP:0000377	Abnormal pinna morphology	2187	FANCB	ORPHA:84
HP:0000377	Abnormal pinna morphology	2176	FANCC	ORPHA:84
HP:0000377	Abnormal pinna morphology	2178	FANCE	ORPHA:84
HP:0000377	Abnormal pinna morphology	2188	FANCF	ORPHA:84
HP:0000377	Abnormal pinna morphology	2189	FANCG	ORPHA:84
HP:0000377	Abnormal pinna morphology	5888	RAD51	ORPHA:84
HP:0000377	Abnormal pinna morphology	5889	RAD51C	ORPHA:84
HP:0000377	Abnormal pinna morphology	55159	RFWD3	ORPHA:84
HP:0000377	Abnormal pinna morphology	83990	BRIP1	ORPHA:84
HP:0000377	Abnormal pinna morphology	57697	FANCM	ORPHA:84
HP:0000377	Abnormal pinna morphology	79728	PALB2	ORPHA:84
HP:0000377	Abnormal pinna morphology	84464	SLX4	ORPHA:84
HP:0000377	Abnormal pinna morphology	2072	ERCC4	ORPHA:84
HP:0000377	Abnormal pinna morphology	55215	FANCI	ORPHA:84
HP:0000377	Abnormal pinna morphology	5351	PLOD1	ORPHA:1900
HP:0000377	Abnormal pinna morphology	2697	GJA1	ORPHA:2710
HP:0000377	Abnormal pinna morphology	2697	GJA1	OMIM:164200
HP:0000377	Abnormal pinna morphology	8260	NAA10	ORPHA:568
HP:0000377	Abnormal pinna morphology	8260	NAA10	OMIM:309800
HP:0000377	Abnormal pinna morphology	54880	BCOR	ORPHA:568
HP:0000377	Abnormal pinna morphology	54880	BCOR	OMIM:309800
HP:0000377	Abnormal pinna morphology	79087	ALG12	OMIM:607143
HP:0000377	Abnormal pinna morphology	79087	ALG12	ORPHA:79324
HP:0000377	Abnormal pinna morphology	2626	GATA4	ORPHA:251071
HP:0000377	Abnormal pinna morphology	6045	RNF2	OMIM:619460
HP:0000377	Abnormal pinna morphology	10943	MSL3	OMIM:301032
HP:0000377	Abnormal pinna morphology	23347	SMCHD1	OMIM:603457
HP:0000377	Abnormal pinna morphology	9896	FIG4	ORPHA:3472
HP:0000377	Abnormal pinna morphology	55697	VAC14	ORPHA:3472
HP:0000377	Abnormal pinna morphology	4330	MN1	OMIM:618774
HP:0000377	Abnormal pinna morphology	1301	COL11A1	OMIM:228520
HP:0000377	Abnormal pinna morphology	9758	FRMPD4	OMIM:300983
HP:0000377	Abnormal pinna morphology	80776	B9D2	OMIM:614175
HP:0000377	Abnormal pinna morphology	10682	EBP	ORPHA:35173
HP:0000377	Abnormal pinna morphology	10682	EBP	OMIM:302960
HP:0000377	Abnormal pinna morphology	83696	TRAPPC9	ORPHA:352530
HP:0000377	Abnormal pinna morphology	5813	PURA	ORPHA:438216
HP:0000377	Abnormal pinna morphology	545	ATR	OMIM:210600
HP:0000377	Abnormal pinna morphology	7020	TFAP2A	ORPHA:1297
HP:0000377	Abnormal pinna morphology	5000	ORC4	OMIM:613800
HP:0000377	Abnormal pinna morphology	1906	EDN1	ORPHA:137888
HP:0000377	Abnormal pinna morphology	5332	PLCB4	ORPHA:137888
HP:0000377	Abnormal pinna morphology	2773	GNAI3	ORPHA:137888
HP:0000377	Abnormal pinna morphology	7468	NSD2	OMIM:194190
HP:0000377	Abnormal pinna morphology	10815	CPLX1	OMIM:194190
HP:0000377	Abnormal pinna morphology	1487	CTBP1	OMIM:194190
HP:0000377	Abnormal pinna morphology	53834	FGFRL1	OMIM:194190
HP:0000377	Abnormal pinna morphology	3954	LETM1	OMIM:194190
HP:0000377	Abnormal pinna morphology	2316	FLNA	ORPHA:90652
HP:0000377	Abnormal pinna morphology	3476	IGBP1	ORPHA:52055
HP:0000377	Abnormal pinna morphology	57167	SALL4	ORPHA:233
HP:0000377	Abnormal pinna morphology	9935	MAFB	ORPHA:233
HP:0000377	Abnormal pinna morphology	1123	CHN1	ORPHA:233
HP:0000377	Abnormal pinna morphology	71	ACTG1	OMIM:614583
HP:0000377	Abnormal pinna morphology	8558	CDK10	OMIM:617694
HP:0000377	Abnormal pinna morphology	51633	OTUD6B	OMIM:617452
HP:0000377	Abnormal pinna morphology	9508	ADAMTS3	ORPHA:2136
HP:0000377	Abnormal pinna morphology	147372	CCBE1	ORPHA:2136
HP:0000377	Abnormal pinna morphology	79633	FAT4	ORPHA:2136
HP:0000377	Abnormal pinna morphology	286	ANK1	ORPHA:251066
HP:0000377	Abnormal pinna morphology	157570	ESCO2	ORPHA:3103
HP:0000377	Abnormal pinna morphology	157570	ESCO2	OMIM:268300
HP:0000377	Abnormal pinna morphology	2138	EYA1	ORPHA:107
HP:0000377	Abnormal pinna morphology	147912	SIX5	ORPHA:107
HP:0000377	Abnormal pinna morphology	6495	SIX1	ORPHA:107
HP:0000377	Abnormal pinna morphology	30813	VSX1	OMIM:614195
HP:0000377	Abnormal pinna morphology	51715	RAB23	OMIM:201000
HP:0000377	Abnormal pinna morphology	1654	DDX3X	ORPHA:3338
HP:0000377	Abnormal pinna morphology	10472	ZBTB18	OMIM:612337
HP:0000377	Abnormal pinna morphology	2255	FGF10	ORPHA:2363
HP:0000377	Abnormal pinna morphology	6299	SALL1	ORPHA:857
HP:0000377	Abnormal pinna morphology	51339	DACT1	ORPHA:857
HP:0000377	Abnormal pinna morphology	4222	MEOX1	OMIM:214300
HP:0000377	Abnormal pinna morphology	1749	DLX5	OMIM:183600
HP:0000377	Abnormal pinna morphology	23065	EMC1	ORPHA:480898
HP:0000377	Abnormal pinna morphology	5373	PMM2	ORPHA:79318
HP:0000377	Abnormal pinna morphology	6497	SKI	OMIM:182212
HP:0000377	Abnormal pinna morphology	23019	CNOT1	ORPHA:556955
HP:0000377	Abnormal pinna morphology	6949	TCOF1	OMIM:154500
HP:0000377	Abnormal pinna morphology	6603	SMARCD2	OMIM:617475
HP:0000377	Abnormal pinna morphology	6611	SMS	OMIM:309583
HP:0000377	Abnormal pinna morphology	5648	MASP1	ORPHA:293843
HP:0000377	Abnormal pinna morphology	78989	COLEC11	ORPHA:293843
HP:0000377	Abnormal pinna morphology	51322	WAC	OMIM:616708
HP:0000377	Abnormal pinna morphology	7476	WNT7A	OMIM:276820
HP:0000377	Abnormal pinna morphology	10195	ALG3	ORPHA:79321
HP:0000377	Abnormal pinna morphology	85440	DOCK7	OMIM:615859
HP:0000377	Abnormal pinna morphology	219844	HYLS1	OMIM:236680
HP:0000377	Abnormal pinna morphology	6913	TBX15	ORPHA:93333
HP:0000377	Abnormal pinna morphology	23299	BICD2	OMIM:618291
HP:0000377	Abnormal pinna morphology	7466	WFS1	ORPHA:411590
HP:0000377	Abnormal pinna morphology	5087	PBX1	OMIM:617641
HP:0000377	Abnormal pinna morphology	8626	TP63	ORPHA:1896
HP:0000377	Abnormal pinna morphology	203068	TUBB	ORPHA:2505
HP:0000377	Abnormal pinna morphology	10982	MAPRE2	ORPHA:2505
HP:0000377	Abnormal pinna morphology	27152	INTU	OMIM:617925
HP:0000377	Abnormal pinna morphology	2245	FGD1	ORPHA:915
HP:0000377	Abnormal pinna morphology	55670	PEX26	ORPHA:912
HP:0000377	Abnormal pinna morphology	5824	PEX19	ORPHA:912
HP:0000377	Abnormal pinna morphology	5828	PEX2	ORPHA:912
HP:0000377	Abnormal pinna morphology	8504	PEX3	ORPHA:912
HP:0000377	Abnormal pinna morphology	8799	PEX11B	ORPHA:912
HP:0000377	Abnormal pinna morphology	9409	PEX16	ORPHA:912
HP:0000377	Abnormal pinna morphology	5190	PEX6	ORPHA:912
HP:0000377	Abnormal pinna morphology	5830	PEX5	ORPHA:912
HP:0000377	Abnormal pinna morphology	5189	PEX1	ORPHA:912
HP:0000377	Abnormal pinna morphology	5193	PEX12	ORPHA:912
HP:0000377	Abnormal pinna morphology	5194	PEX13	ORPHA:912
HP:0000377	Abnormal pinna morphology	5195	PEX14	ORPHA:912
HP:0000377	Abnormal pinna morphology	5192	PEX10	ORPHA:912
HP:0000377	Abnormal pinna morphology	2110	ETFDH	OMIM:231680
HP:0000377	Abnormal pinna morphology	2108	ETFA	OMIM:231680
HP:0000377	Abnormal pinna morphology	2109	ETFB	OMIM:231680
HP:0000377	Abnormal pinna morphology	6929	TCF3	ORPHA:33110
HP:0000377	Abnormal pinna morphology	7922	SLC39A7	ORPHA:33110
HP:0000377	Abnormal pinna morphology	973	CD79A	ORPHA:33110
HP:0000377	Abnormal pinna morphology	974	CD79B	ORPHA:33110
HP:0000377	Abnormal pinna morphology	6688	SPI1	ORPHA:33110
HP:0000377	Abnormal pinna morphology	3543	IGLL1	ORPHA:33110
HP:0000377	Abnormal pinna morphology	3507	IGHM	ORPHA:33110
HP:0000377	Abnormal pinna morphology	29760	BLNK	ORPHA:33110
HP:0000377	Abnormal pinna morphology	5295	PIK3R1	ORPHA:33110
HP:0000377	Abnormal pinna morphology	56262	LRRC8A	ORPHA:33110
HP:0000377	Abnormal pinna morphology	668	FOXL2	OMIM:110100
HP:0000377	Abnormal pinna morphology	4953	ODC1	OMIM:619075
HP:0000377	Abnormal pinna morphology	6909	TBX2	OMIM:618223
HP:0000377	Abnormal pinna morphology	26038	CHD5	OMIM:619873
HP:0000377	Abnormal pinna morphology	10664	CTCF	ORPHA:363611
HP:0000377	Abnormal pinna morphology	10664	CTCF	OMIM:615502
HP:0000377	Abnormal pinna morphology	134218	DNAJC21	OMIM:617052
HP:0000377	Abnormal pinna morphology	10526	IPO8	OMIM:619472
HP:0000377	Abnormal pinna morphology	6711	SPTBN1	OMIM:619475
HP:0000377	Abnormal pinna morphology	1909	EDNRA	OMIM:616367
HP:0000377	Abnormal pinna morphology	23394	ADNP	OMIM:615873
HP:0000377	Abnormal pinna morphology	79005	SCNM1	OMIM:620107
HP:0000377	Abnormal pinna morphology	5361	PLXNA1	OMIM:619955
HP:0000377	Abnormal pinna morphology	90459	ERI1	OMIM:620662
HP:0000377	Abnormal pinna morphology	9839	ZEB2	OMIM:235730
HP:0000377	Abnormal pinna morphology	11198	SUPT16H	OMIM:619480
HP:0000377	Abnormal pinna morphology	27125	AFF4	ORPHA:444077
HP:0000377	Abnormal pinna morphology	284252	KCTD1	OMIM:181270
HP:0000377	Abnormal pinna morphology	1457	CSNK2A1	OMIM:617062
HP:0000377	Abnormal pinna morphology	54870	QRICH1	OMIM:617982
HP:0000377	Abnormal pinna morphology	5075	PAX1	OMIM:615560
HP:0000377	Abnormal pinna morphology	53335	BCL11A	OMIM:617101
HP:0000377	Abnormal pinna morphology	1723	DHODH	OMIM:263750
HP:0000377	Abnormal pinna morphology	1723	DHODH	ORPHA:246
HP:0000377	Abnormal pinna morphology	10084	PQBP1	ORPHA:93945
HP:0000377	Abnormal pinna morphology	10084	PQBP1	ORPHA:93946
HP:0000377	Abnormal pinna morphology	10084	PQBP1	ORPHA:93947
HP:0000377	Abnormal pinna morphology	10084	PQBP1	OMIM:309500
HP:0000377	Abnormal pinna morphology	23291	FBXW11	OMIM:618914
HP:0000377	Abnormal pinna morphology	79971	WLS	OMIM:619648
HP:0000377	Abnormal pinna morphology	6925	TCF4	OMIM:610954
HP:0000377	Abnormal pinna morphology	55252	ASXL2	OMIM:617190
HP:0000377	Abnormal pinna morphology	23556	PIGN	OMIM:614080
HP:0000377	Abnormal pinna morphology	55777	MBD5	OMIM:156200
HP:0000377	Abnormal pinna morphology	84992	PIGY	ORPHA:247262
HP:0000377	Abnormal pinna morphology	84720	PIGO	ORPHA:247262
HP:0000377	Abnormal pinna morphology	93210	PGAP3	ORPHA:247262
HP:0000377	Abnormal pinna morphology	284098	PIGW	ORPHA:247262
HP:0000377	Abnormal pinna morphology	27315	PGAP2	ORPHA:247262
HP:0000377	Abnormal pinna morphology	55650	PIGV	ORPHA:247262
HP:0000377	Abnormal pinna morphology	9487	PIGL	ORPHA:247262
HP:0000377	Abnormal pinna morphology	254065	BRWD3	OMIM:300659
HP:0000377	Abnormal pinna morphology	1984	EIF5A	OMIM:619376
HP:0000377	Abnormal pinna morphology	1663	DDX11	OMIM:613398
HP:0000377	Abnormal pinna morphology	57479	PRR12	OMIM:619539
HP:0000377	Abnormal pinna morphology	5455	POU3F3	OMIM:618604
HP:0000377	Abnormal pinna morphology	1889	ECE1	OMIM:613870
HP:0000377	Abnormal pinna morphology	9968	MED12	ORPHA:93932
HP:0000377	Abnormal pinna morphology	1108	CHD4	OMIM:617159
HP:0000377	Abnormal pinna morphology	9203	ZMYM3	OMIM:301111
HP:0000377	Abnormal pinna morphology	54101	RIPK4	OMIM:263650
HP:0000377	Abnormal pinna morphology	7403	KDM6A	OMIM:300867
HP:0000377	Abnormal pinna morphology	7403	KDM6A	OMIM:147920
HP:0000377	Abnormal pinna morphology	23036	ZNF292	OMIM:619188
HP:0000377	Abnormal pinna morphology	7543	ZFX	OMIM:301118
HP:0000377	Abnormal pinna morphology	25942	SIN3A	OMIM:613406
HP:0000377	Abnormal pinna morphology	26834	RNU4-2	OMIM:620851
HP:0000377	Abnormal pinna morphology	9898	UBAP2L	OMIM:620494
HP:0000377	Abnormal pinna morphology	58499	ZNF462	OMIM:618619
HP:0000377	Abnormal pinna morphology	8085	KMT2D	OMIM:147920
HP:0000377	Abnormal pinna morphology	10075	HUWE1	OMIM:309590
HP:0000377	Abnormal pinna morphology	5792	PTPRF	OMIM:616001
HP:0000377	Abnormal pinna morphology	9719	ADAMTSL2	OMIM:231050
HP:0000377	Abnormal pinna morphology	10220	GDF11	OMIM:619122
HP:0000377	Abnormal pinna morphology	92002	CCNQ	ORPHA:140952
HP:0000377	Abnormal pinna morphology	92002	CCNQ	OMIM:300707
HP:0000377	Abnormal pinna morphology	113246	C12orf57	OMIM:218340
HP:0000377	Abnormal pinna morphology	1289	COL5A1	OMIM:130000
HP:0000377	Abnormal pinna morphology	23431	AP4E1	OMIM:613744
HP:0000377	Abnormal pinna morphology	9230	RAB11B	OMIM:617807
HP:0000377	Abnormal pinna morphology	9949	AMMECR1	OMIM:300990
HP:0000377	Abnormal pinna morphology	10771	ZMYND11	OMIM:616083
HP:0000377	Abnormal pinna morphology	2077	ERF	OMIM:617180
HP:0000377	Abnormal pinna morphology	727857	BHLHA9	ORPHA:3329
HP:0000377	Abnormal pinna morphology	738	VPS51	OMIM:618606
HP:0000377	Abnormal pinna morphology	7043	TGFB3	OMIM:615582
HP:0000377	Abnormal pinna morphology	11113	CIT	OMIM:617090
HP:0000377	Abnormal pinna morphology	11253	MAN1B1	ORPHA:397941
HP:0000377	Abnormal pinna morphology	11253	MAN1B1	OMIM:614202
HP:0000377	Abnormal pinna morphology	27316	RBMX	OMIM:300238
HP:0000377	Abnormal pinna morphology	27316	RBMX	ORPHA:85286
HP:0000377	Abnormal pinna morphology	340533	NEXMIF	OMIM:300912
HP:0000377	Abnormal pinna morphology	23135	KDM6B	OMIM:618505
HP:0000377	Abnormal pinna morphology	781	CACNA2D1	OMIM:620149
HP:0000377	Abnormal pinna morphology	91801	ALKBH8	OMIM:618504
HP:0000377	Abnormal pinna morphology	84942	WDR73	OMIM:251300
HP:0000377	Abnormal pinna morphology	84942	WDR73	ORPHA:2065
HP:0000377	Abnormal pinna morphology	1134	CHRNA1	OMIM:608930
HP:0000377	Abnormal pinna morphology	4047	LSS	ORPHA:2850
HP:0000377	Abnormal pinna morphology	197	AHSG	ORPHA:2850
HP:0000377	Abnormal pinna morphology	3694	ITGB6	ORPHA:2850
HP:0000377	Abnormal pinna morphology	2067	ERCC1	ORPHA:90322
HP:0000377	Abnormal pinna morphology	4983	OPHN1	OMIM:300486
HP:0000377	Abnormal pinna morphology	10479	SLC9A6	OMIM:300243
HP:0000377	Abnormal pinna morphology	10479	SLC9A6	ORPHA:85278
HP:0000377	Abnormal pinna morphology	10300	KATNB1	OMIM:616212
HP:0000377	Abnormal pinna morphology	7552	ZNF711	OMIM:300803
HP:0000377	Abnormal pinna morphology	10730	YME1L1	OMIM:617302
HP:0000377	Abnormal pinna morphology	55690	PACS1	OMIM:615009
HP:0000377	Abnormal pinna morphology	55690	PACS1	ORPHA:329224
HP:0000377	Abnormal pinna morphology	80055	PGAP1	OMIM:615802
HP:0000377	Abnormal pinna morphology	84520	GON7	OMIM:619603
HP:0000377	Abnormal pinna morphology	84520	GON7	ORPHA:2065
HP:0000377	Abnormal pinna morphology	5818	NECTIN1	ORPHA:3253
HP:0000377	Abnormal pinna morphology	6023	RMRP	ORPHA:175
HP:0000377	Abnormal pinna morphology	51360	MBTPS2	ORPHA:2273
HP:0000377	Abnormal pinna morphology	64324	NSD1	OMIM:117550
HP:0000377	Abnormal pinna morphology	64324	NSD1	ORPHA:3447
HP:0000377	Abnormal pinna morphology	284058	KANSL1	ORPHA:363958
HP:0000377	Abnormal pinna morphology	284058	KANSL1	ORPHA:363965
HP:0000377	Abnormal pinna morphology	284058	KANSL1	OMIM:610443
HP:0000377	Abnormal pinna morphology	25885	POLR1A	OMIM:616462
HP:0000377	Abnormal pinna morphology	80204	FBXO11	OMIM:618089
HP:0000377	Abnormal pinna morphology	114034	TOE1	OMIM:614969
HP:0000377	Abnormal pinna morphology	114034	TOE1	ORPHA:284339
HP:0000377	Abnormal pinna morphology	83550	GPR101	ORPHA:963
HP:0000377	Abnormal pinna morphology	9049	AIP	ORPHA:963
HP:0000377	Abnormal pinna morphology	10555	AGPAT2	OMIM:608594
HP:0000377	Abnormal pinna morphology	259232	NALCN	ORPHA:562528
HP:0000377	Abnormal pinna morphology	259232	NALCN	OMIM:615419
HP:0000377	Abnormal pinna morphology	26523	AGO1	OMIM:620292
HP:0000377	Abnormal pinna morphology	23096	IQSEC2	ORPHA:397933
HP:0000377	Abnormal pinna morphology	652	BMP4	OMIM:607932
HP:0000377	Abnormal pinna morphology	8726	EED	OMIM:617561
HP:0000377	Abnormal pinna morphology	1193	CLIC2	ORPHA:324410
HP:0000377	Abnormal pinna morphology	55714	TENM3	OMIM:615145
HP:0000377	Abnormal pinna morphology	8036	SHOC2	ORPHA:2701
HP:0000377	Abnormal pinna morphology	5500	PPP1CB	ORPHA:2701
HP:0000377	Abnormal pinna morphology	2783	GNB2	OMIM:619503
HP:0000377	Abnormal pinna morphology	165	AEBP1	ORPHA:536532
HP:0000377	Abnormal pinna morphology	165	AEBP1	OMIM:618000
HP:0000377	Abnormal pinna morphology	26227	PHGDH	OMIM:256520
HP:0000377	Abnormal pinna morphology	92482	BBIP1	ORPHA:110
HP:0000377	Abnormal pinna morphology	80184	CEP290	ORPHA:110
HP:0000377	Abnormal pinna morphology	11020	IFT27	ORPHA:110
HP:0000377	Abnormal pinna morphology	582	BBS1	ORPHA:110
HP:0000377	Abnormal pinna morphology	49855	SCAPER	ORPHA:110
HP:0000377	Abnormal pinna morphology	4867	NPHP1	ORPHA:110
HP:0000377	Abnormal pinna morphology	51057	WDPCP	ORPHA:110
HP:0000377	Abnormal pinna morphology	132320	SCLT1	ORPHA:110
HP:0000377	Abnormal pinna morphology	27241	BBS9	ORPHA:110
HP:0000377	Abnormal pinna morphology	84984	CEP19	ORPHA:110
HP:0000377	Abnormal pinna morphology	22954	TRIM32	ORPHA:110
HP:0000377	Abnormal pinna morphology	54903	MKS1	ORPHA:110
HP:0000377	Abnormal pinna morphology	79738	BBS10	ORPHA:110
HP:0000377	Abnormal pinna morphology	123016	TTC8	ORPHA:110
HP:0000377	Abnormal pinna morphology	26160	IFT172	ORPHA:110
HP:0000377	Abnormal pinna morphology	583	BBS2	ORPHA:110
HP:0000377	Abnormal pinna morphology	585	BBS4	ORPHA:110
HP:0000377	Abnormal pinna morphology	8195	MKKS	ORPHA:110
HP:0000377	Abnormal pinna morphology	54585	LZTFL1	ORPHA:110
HP:0000377	Abnormal pinna morphology	55212	BBS7	ORPHA:110
HP:0000377	Abnormal pinna morphology	166379	BBS12	ORPHA:110
HP:0000377	Abnormal pinna morphology	10806	SDCCAG8	ORPHA:110
HP:0000377	Abnormal pinna morphology	157657	CFAP418	ORPHA:110
HP:0000377	Abnormal pinna morphology	84100	ARL6	ORPHA:110
HP:0000377	Abnormal pinna morphology	129880	BBS5	ORPHA:110
HP:0000377	Abnormal pinna morphology	80173	IFT74	ORPHA:110
HP:0000377	Abnormal pinna morphology	1182	CLCN3	OMIM:619512
HP:0000377	Abnormal pinna morphology	29081	METTL5	OMIM:618665
HP:0000377	Abnormal pinna morphology	388662	SLC6A17	ORPHA:457212
HP:0000377	Abnormal pinna morphology	388662	SLC6A17	OMIM:616269
HP:0000377	Abnormal pinna morphology	55773	TBC1D23	OMIM:617695
HP:0000377	Abnormal pinna morphology	57680	CHD8	OMIM:615032
HP:0000377	Abnormal pinna morphology	5063	PAK3	OMIM:300558
HP:0000377	Abnormal pinna morphology	8905	AP1S2	ORPHA:85335
HP:0000377	Abnormal pinna morphology	2332	FMR1	ORPHA:908
HP:0000377	Abnormal pinna morphology	2332	FMR1	ORPHA:449291
HP:0000377	Abnormal pinna morphology	2332	FMR1	OMIM:300624
HP:0000377	Abnormal pinna morphology	57282	SLC4A10	OMIM:620746
HP:0000377	Abnormal pinna morphology	6804	STX1A	ORPHA:904
HP:0000377	Abnormal pinna morphology	7461	CLIP2	ORPHA:904
HP:0000377	Abnormal pinna morphology	84277	DNAJC30	ORPHA:904
HP:0000377	Abnormal pinna morphology	8468	FKBP6	ORPHA:904
HP:0000377	Abnormal pinna morphology	5982	RFC2	ORPHA:904
HP:0000377	Abnormal pinna morphology	2969	GTF2I	ORPHA:904
HP:0000377	Abnormal pinna morphology	3984	LIMK1	ORPHA:904
HP:0000377	Abnormal pinna morphology	9569	GTF2IRD1	ORPHA:904
HP:0000377	Abnormal pinna morphology	155382	VPS37D	ORPHA:904
HP:0000377	Abnormal pinna morphology	155368	METTL27	ORPHA:904
HP:0000377	Abnormal pinna morphology	114049	BUD23	ORPHA:904
HP:0000377	Abnormal pinna morphology	7458	EIF4H	ORPHA:904
HP:0000377	Abnormal pinna morphology	84163	GTF2IRD2	ORPHA:904
HP:0000377	Abnormal pinna morphology	26608	TBL2	ORPHA:904
HP:0000377	Abnormal pinna morphology	653361	NCF1	ORPHA:904
HP:0000377	Abnormal pinna morphology	135886	TMEM270	ORPHA:904
HP:0000377	Abnormal pinna morphology	9031	BAZ1B	ORPHA:904
HP:0000377	Abnormal pinna morphology	2006	ELN	ORPHA:904
HP:0000377	Abnormal pinna morphology	116115	ZNF526	OMIM:619877
HP:0000377	Abnormal pinna morphology	5728	PTEN	ORPHA:109
HP:0000377	Abnormal pinna morphology	81031	SLC2A10	ORPHA:3342
HP:0000377	Abnormal pinna morphology	81031	SLC2A10	OMIM:208050
HP:0000377	Abnormal pinna morphology	6134	RPL10	ORPHA:459070
HP:0000377	Abnormal pinna morphology	23345	SYNE1	ORPHA:319332
HP:0000377	Abnormal pinna morphology	3675	ITGA3	OMIM:614748
HP:0000377	Abnormal pinna morphology	5727	PTCH1	OMIM:610828
HP:0000377	Abnormal pinna morphology	2736	GLI2	OMIM:610829
HP:0000377	Abnormal pinna morphology	79759	ZNF668	OMIM:620194
HP:0000377	Abnormal pinna morphology	26137	ZBTB20	OMIM:259050
HP:0000377	Abnormal pinna morphology	26137	ZBTB20	ORPHA:3042
HP:0000377	Abnormal pinna morphology	9158	FIBP	OMIM:617107
HP:0000377	Abnormal pinna morphology	9158	FIBP	ORPHA:500095
HP:0000377	Abnormal pinna morphology	182	JAG1	OMIM:118450
HP:0000377	Abnormal pinna morphology	63895	PIEZO2	ORPHA:1154
HP:0000377	Abnormal pinna morphology	6901	TAFAZZIN	OMIM:302060
HP:0000377	Abnormal pinna morphology	5832	ALDH18A1	OMIM:219150
HP:0000377	Abnormal pinna morphology	84919	PPP1R15B	OMIM:616817
HP:0000377	Abnormal pinna morphology	84919	PPP1R15B	ORPHA:391408
HP:0000377	Abnormal pinna morphology	8573	CASK	ORPHA:163937
HP:0000377	Abnormal pinna morphology	8573	CASK	OMIM:300749
HP:0000377	Abnormal pinna morphology	8242	KDM5C	OMIM:300534
HP:0000377	Abnormal pinna morphology	23007	PLCH1	OMIM:619895
HP:0000377	Abnormal pinna morphology	26047	CNTNAP2	OMIM:610042
HP:0000377	Abnormal pinna morphology	2146	EZH2	OMIM:277590
HP:0000377	Abnormal pinna morphology	2146	EZH2	ORPHA:3447
HP:0000377	Abnormal pinna morphology	50945	TBX22	ORPHA:921
HP:0000377	Abnormal pinna morphology	50945	TBX22	OMIM:302905
HP:0000377	Abnormal pinna morphology	23512	SUZ12	ORPHA:3447
HP:0000377	Abnormal pinna morphology	6595	SMARCA2	OMIM:601358
HP:0000377	Abnormal pinna morphology	7546	ZIC2	OMIM:609637
HP:0000377	Abnormal pinna morphology	55023	PHIP	ORPHA:589905
HP:0000377	Abnormal pinna morphology	55023	PHIP	OMIM:617991
HP:0000377	Abnormal pinna morphology	29123	ANKRD11	OMIM:148050
HP:0000377	Abnormal pinna morphology	29123	ANKRD11	ORPHA:2332
HP:0000377	Abnormal pinna morphology	58497	PRUNE1	OMIM:617481
HP:0000377	Abnormal pinna morphology	22930	RAB3GAP1	OMIM:619420
HP:0000377	Abnormal pinna morphology	22930	RAB3GAP1	OMIM:600118
HP:0000377	Abnormal pinna morphology	22930	RAB3GAP1	ORPHA:2510
HP:0000377	Abnormal pinna morphology	84188	FAR1	OMIM:616154
HP:0000377	Abnormal pinna morphology	84188	FAR1	ORPHA:438178
HP:0000377	Abnormal pinna morphology	867	CBL	OMIM:613563
HP:0000377	Abnormal pinna morphology	22907	DHX30	OMIM:617804
HP:0000377	Abnormal pinna morphology	7227	TRPS1	OMIM:190350
HP:0000377	Abnormal pinna morphology	7227	TRPS1	ORPHA:77258
HP:0000377	Abnormal pinna morphology	1642	DDB1	OMIM:619426
HP:0000377	Abnormal pinna morphology	7319	UBE2A	ORPHA:163956
HP:0000377	Abnormal pinna morphology	8925	HERC1	OMIM:617011
HP:0000377	Abnormal pinna morphology	8925	HERC1	ORPHA:457359
HP:0000377	Abnormal pinna morphology	9759	HDAC4	OMIM:619797
HP:0000377	Abnormal pinna morphology	56896	DPYSL5	OMIM:619435
HP:0000377	Abnormal pinna morphology	4683	NBN	OMIM:251260
HP:0000377	Abnormal pinna morphology	4683	NBN	ORPHA:647
HP:0000377	Abnormal pinna morphology	83548	COG3	OMIM:620546
HP:0000377	Abnormal pinna morphology	6418	SET	OMIM:618106
HP:0000377	Abnormal pinna morphology	85358	SHANK3	OMIM:606232
HP:0000377	Abnormal pinna morphology	2202	EFEMP1	OMIM:620780
HP:0000377	Abnormal pinna morphology	6567	SLC16A2	OMIM:300523
HP:0000377	Abnormal pinna morphology	57520	HECW2	OMIM:617268
HP:0000377	Abnormal pinna morphology	113179	ADAT3	ORPHA:363528
HP:0000377	Abnormal pinna morphology	9342	SNAP29	ORPHA:66631
HP:0000377	Abnormal pinna morphology	23030	KDM4B	OMIM:619320
HP:0000377	Abnormal pinna morphology	1363	CPE	OMIM:619326
HP:0000377	Abnormal pinna morphology	26128	KIFBP	ORPHA:66629
HP:0000377	Abnormal pinna morphology	54820	NDE1	OMIM:605013
HP:0000377	Abnormal pinna morphology	2720	GLB1	ORPHA:79255
HP:0000377	Abnormal pinna morphology	3417	IDH1	ORPHA:99646
HP:0000377	Abnormal pinna morphology	161725	OTUD7A	OMIM:620790
HP:0000377	Abnormal pinna morphology	6904	TBCD	ORPHA:496641
HP:0000377	Abnormal pinna morphology	4810	NHS	OMIM:302350
HP:0000377	Abnormal pinna morphology	4204	MECP2	OMIM:300055
HP:0000377	Abnormal pinna morphology	4204	MECP2	OMIM:300260
HP:0000377	Abnormal pinna morphology	23221	RHOBTB2	OMIM:618004
HP:0000377	Abnormal pinna morphology	24140	FTSJ1	OMIM:309549
HP:0000377	Abnormal pinna morphology	4125	MAN2B1	OMIM:248500
HP:0000377	Abnormal pinna morphology	92255	LMBRD2	OMIM:619694
HP:0000377	Abnormal pinna morphology	8831	SYNGAP1	ORPHA:544254
HP:0000377	Abnormal pinna morphology	3643	INSR	OMIM:246200
HP:0000377	Abnormal pinna morphology	3643	INSR	ORPHA:769
HP:0000377	Abnormal pinna morphology	23476	BRD4	OMIM:620568
HP:0000377	Abnormal pinna morphology	23476	BRD4	ORPHA:199
HP:0000377	Abnormal pinna morphology	5604	MAP2K1	ORPHA:1340
HP:0000377	Abnormal pinna morphology	5605	MAP2K2	ORPHA:1340
HP:0000377	Abnormal pinna morphology	3845	KRAS	ORPHA:1340
HP:0000377	Abnormal pinna morphology	673	BRAF	ORPHA:1340
HP:0000377	Abnormal pinna morphology	29920	PYCR2	ORPHA:481152
HP:0000377	Abnormal pinna morphology	23389	MED13L	ORPHA:369891
HP:0000377	Abnormal pinna morphology	23389	MED13L	OMIM:616789
HP:0000377	Abnormal pinna morphology	6821	SUOX	OMIM:272300
HP:0000377	Abnormal pinna morphology	23258	DENND5A	OMIM:617281
HP:0000377	Abnormal pinna morphology	2068	ERCC2	OMIM:601675
HP:0000377	Abnormal pinna morphology	80185	TTI2	OMIM:615541
HP:0000377	Abnormal pinna morphology	80185	TTI2	ORPHA:391307
HP:0000377	Abnormal pinna morphology	3758	KCNJ1	OMIM:241200
HP:0000377	Abnormal pinna morphology	92949	ADAMTSL1	ORPHA:521445
HP:0000377	Abnormal pinna morphology	57187	THOC2	ORPHA:457240
HP:0000377	Abnormal pinna morphology	6874	TAF4	OMIM:620450
HP:0000377	Abnormal pinna morphology	760	CA2	ORPHA:2785
HP:0000377	Abnormal pinna morphology	79718	TBL1XR1	ORPHA:487825
HP:0000377	Abnormal pinna morphology	9126	SMC3	ORPHA:199
HP:0000377	Abnormal pinna morphology	8243	SMC1A	ORPHA:199
HP:0000377	Abnormal pinna morphology	6878	TAF6	ORPHA:199
HP:0000377	Abnormal pinna morphology	25836	NIPBL	ORPHA:199
HP:0000377	Abnormal pinna morphology	55869	HDAC8	ORPHA:199
HP:0000377	Abnormal pinna morphology	5885	RAD21	ORPHA:199
HP:0000377	Abnormal pinna morphology	9791	PTDSS1	OMIM:151050
HP:0000377	Abnormal pinna morphology	9791	PTDSS1	ORPHA:2658
HP:0000377	Abnormal pinna morphology	8943	AP3D1	OMIM:617050
HP:0000377	Abnormal pinna morphology	5977	DPF2	OMIM:618027
HP:0000377	Abnormal pinna morphology	2892	GRIA3	ORPHA:364028
HP:0000377	Abnormal pinna morphology	348180	CTU2	OMIM:618142
HP:0000377	Abnormal pinna morphology	26580	BSCL2	OMIM:269700
HP:0000377	Abnormal pinna morphology	25782	RAB3GAP2	OMIM:614225
HP:0000377	Abnormal pinna morphology	25782	RAB3GAP2	ORPHA:2510
HP:0000377	Abnormal pinna morphology	1859	DYRK1A	OMIM:614104
HP:0000377	Abnormal pinna morphology	1861	TOR1A	OMIM:618947
HP:0000377	Abnormal pinna morphology	22931	RAB18	OMIM:614222
HP:0000377	Abnormal pinna morphology	22931	RAB18	ORPHA:2510
HP:0000377	Abnormal pinna morphology	10283	CWC27	OMIM:250410
HP:0000377	Abnormal pinna morphology	10283	CWC27	ORPHA:166035
HP:0000377	Abnormal pinna morphology	6513	SLC2A1	ORPHA:168577
HP:0000377	Abnormal pinna morphology	207	AKT1	ORPHA:744
HP:0000377	Abnormal pinna morphology	63932	STEEP1	OMIM:301013
HP:0000377	Abnormal pinna morphology	8720	MBTPS1	OMIM:618392
HP:0000377	Abnormal pinna morphology	136647	MPLKIP	OMIM:234050
HP:0000377	Abnormal pinna morphology	7204	TRIO	OMIM:617061
HP:0000377	Abnormal pinna morphology	2222	FDFT1	OMIM:618156
HP:0000377	Abnormal pinna morphology	6872	TAF1	OMIM:300966
HP:0000377	Abnormal pinna morphology	374879	ZNF699	OMIM:619488
HP:0000377	Abnormal pinna morphology	2893	GRIA4	OMIM:617864
HP:0000377	Abnormal pinna morphology	93587	TRMT10A	ORPHA:391408
HP:0000377	Abnormal pinna morphology	3756	KCNH1	ORPHA:420561
HP:0000377	Abnormal pinna morphology	6748	SSR4	ORPHA:370927
HP:0000377	Abnormal pinna morphology	6748	SSR4	OMIM:300934
HP:0000377	Abnormal pinna morphology	84295	PHF6	OMIM:301900
HP:0000377	Abnormal pinna morphology	4256	MGP	OMIM:245150
HP:0000377	Abnormal pinna morphology	153241	CEP120	OMIM:616300
HP:0000377	Abnormal pinna morphology	440	ASNS	OMIM:615574
HP:0000377	Abnormal pinna morphology	55733	HHAT	ORPHA:1422
HP:0000377	Abnormal pinna morphology	11043	MID2	OMIM:300928
HP:0000377	Abnormal pinna morphology	4693	NDP	ORPHA:649
HP:0000377	Abnormal pinna morphology	128637	TBC1D20	ORPHA:2510
HP:0000377	Abnormal pinna morphology	9562	MINPP1	ORPHA:284339
HP:0000377	Abnormal pinna morphology	55553	SOX6	OMIM:618971
HP:0000377	Abnormal pinna morphology	55181	SMG8	OMIM:619268
HP:0000377	Abnormal pinna morphology	1968	EIF2S3	OMIM:300148
HP:0000377	Abnormal pinna morphology	51109	RDH11	ORPHA:436245
HP:0000377	Abnormal pinna morphology	523	ATP6V1A	OMIM:617403
HP:0000377	Abnormal pinna morphology	79693	YRDC	ORPHA:2065
HP:0000377	Abnormal pinna morphology	51002	TPRKB	ORPHA:2065
HP:0000377	Abnormal pinna morphology	55644	OSGEP	ORPHA:2065
HP:0000377	Abnormal pinna morphology	57122	NUP107	ORPHA:2065
HP:0000377	Abnormal pinna morphology	10785	WDR4	ORPHA:2065
HP:0000377	Abnormal pinna morphology	55746	NUP133	ORPHA:2065
HP:0000377	Abnormal pinna morphology	112858	TP53RK	ORPHA:2065
HP:0000377	Abnormal pinna morphology	8270	LAGE3	ORPHA:2065
HP:0000377	Abnormal pinna morphology	27445	PCLO	OMIM:608027
HP:0000377	Abnormal pinna morphology	5696	PSMB8	OMIM:256040
HP:0000377	Abnormal pinna morphology	5052	PRDX1	OMIM:277400
HP:0000377	Abnormal pinna morphology	25974	MMACHC	OMIM:277400
HP:0000377	Abnormal pinna morphology	9990	SLC12A6	OMIM:218000
HP:0000377	Abnormal pinna morphology	283450	HECTD4	OMIM:620250
HP:0000377	Abnormal pinna morphology	26235	FBXL4	OMIM:615471
HP:0000377	Abnormal pinna morphology	10054	UBA2	OMIM:619959
HP:0000377	Abnormal pinna morphology	9820	CUL7	ORPHA:2616
HP:0000377	Abnormal pinna morphology	23363	OBSL1	ORPHA:2616
HP:0000377	Abnormal pinna morphology	23363	OBSL1	OMIM:612921
HP:0000377	Abnormal pinna morphology	83987	CCDC8	ORPHA:2616
HP:0000377	Abnormal pinna morphology	83987	CCDC8	OMIM:614205
HP:0000377	Abnormal pinna morphology	55627	SMPD4	OMIM:618622
HP:0000377	Abnormal pinna morphology	7021	TFAP2B	OMIM:169100
HP:0000377	Abnormal pinna morphology	3190	HNRNPK	ORPHA:453504
HP:0000377	Abnormal pinna morphology	3190	HNRNPK	ORPHA:352665
HP:0000377	Abnormal pinna morphology	3481	IGF2	ORPHA:231140
HP:0000377	Abnormal pinna morphology	283120	H19	ORPHA:231140
HP:0000377	Abnormal pinna morphology	170302	ARX	OMIM:300004
HP:0000377	Abnormal pinna morphology	170302	ARX	ORPHA:2508
HP:0000377	Abnormal pinna morphology	27245	AHDC1	ORPHA:412069
HP:0000377	Abnormal pinna morphology	27245	AHDC1	OMIM:615829
HP:0000377	Abnormal pinna morphology	24142	NAA80	OMIM:620830
HP:0000377	Abnormal pinna morphology	4038	LRP4	ORPHA:3258
HP:0000377	Abnormal pinna morphology	324	APC	ORPHA:3258
HP:0000377	Abnormal pinna morphology	6197	RPS6KA3	OMIM:303600
HP:0000377	Abnormal pinna morphology	6197	RPS6KA3	ORPHA:192
HP:0000377	Abnormal pinna morphology	818	CAMK2G	OMIM:618522
HP:0000377	Abnormal pinna morphology	1281	COL3A1	ORPHA:286
HP:0000377	Abnormal pinna morphology	4763	NF1	ORPHA:363700
HP:0000377	Abnormal pinna morphology	3340	NDST1	OMIM:616116
HP:0000377	Abnormal pinna morphology	1954	MEGF8	OMIM:614976
HP:0000377	Abnormal pinna morphology	649	BMP1	OMIM:614856
HP:0000377	Abnormal pinna morphology	11193	WBP4	OMIM:620852
HP:0000377	Abnormal pinna morphology	55361	PI4K2A	OMIM:620732
HP:0000377	Abnormal pinna morphology	3981	LIG4	ORPHA:235
HP:0000377	Abnormal pinna morphology	54888	NSUN2	ORPHA:235
HP:0000377	Abnormal pinna morphology	7809	BSND	ORPHA:89938
HP:0000377	Abnormal pinna morphology	1188	CLCNKB	ORPHA:89938
HP:0000377	Abnormal pinna morphology	1187	CLCNKA	ORPHA:89938
HP:0000377	Abnormal pinna morphology	7025	NR2F1	ORPHA:401777
HP:0000377	Abnormal pinna morphology	7025	NR2F1	OMIM:615722
HP:0000377	Abnormal pinna morphology	51114	ZDHHC9	OMIM:300799
HP:0000377	Abnormal pinna morphology	51114	ZDHHC9	ORPHA:776
HP:0000377	Abnormal pinna morphology	55621	TRMT1	OMIM:618302
HP:0000377	Abnormal pinna morphology	23137	SMC5	OMIM:620185
HP:0000377	Abnormal pinna morphology	10907	TXNL4A	OMIM:608572
HP:0000377	Abnormal pinna morphology	55027	HEATR3	OMIM:620072
HP:0000377	Abnormal pinna morphology	283209	PGM2L1	OMIM:620191
HP:0000377	Abnormal pinna morphology	163175	LGI4	OMIM:617468
HP:0000377	Abnormal pinna morphology	641	BLM	OMIM:210900
HP:0000377	Abnormal pinna morphology	23261	CAMTA1	OMIM:614756
HP:0000377	Abnormal pinna morphology	200424	TET3	OMIM:618798
HP:0000377	Abnormal pinna morphology	55691	FRMD4A	OMIM:616819
HP:0000377	Abnormal pinna morphology	2556	GABRA3	OMIM:301091
HP:0000377	Abnormal pinna morphology	23162	MAPK8IP3	OMIM:618443
HP:0000377	Abnormal pinna morphology	79989	IFT56	OMIM:619534
HP:0000377	Abnormal pinna morphology	7140	TNNT3	ORPHA:1147
HP:0000377	Abnormal pinna morphology	4621	MYH3	ORPHA:1147
HP:0000377	Abnormal pinna morphology	7169	TPM2	ORPHA:1147
HP:0000377	Abnormal pinna morphology	7136	TNNI2	ORPHA:1147
HP:0000377	Abnormal pinna morphology	84168	ANTXR1	OMIM:230740
HP:0000377	Abnormal pinna morphology	10516	FBLN5	ORPHA:90348
HP:0000377	Abnormal pinna morphology	85459	CEP295	OMIM:620767
HP:0000377	Abnormal pinna morphology	404672	GTF2H5	ORPHA:33364
HP:0000377	Abnormal pinna morphology	833	CARS1	ORPHA:33364
HP:0000377	Abnormal pinna morphology	7737	RNF113A	ORPHA:33364
HP:0000377	Abnormal pinna morphology	6897	TARS1	ORPHA:33364
HP:0000377	Abnormal pinna morphology	16	AARS1	ORPHA:33364
HP:0000377	Abnormal pinna morphology	16	AARS1	OMIM:619691
HP:0000377	Abnormal pinna morphology	2071	ERCC3	ORPHA:33364
HP:0000377	Abnormal pinna morphology	2961	GTF2E2	ORPHA:33364
HP:0000377	Abnormal pinna morphology	6509	SLC1A4	ORPHA:447997
HP:0000377	Abnormal pinna morphology	80067	DCAF17	OMIM:241080
HP:0000377	Abnormal pinna morphology	1387	CREBBP	OMIM:618332
HP:0000377	Abnormal pinna morphology	5781	PTPN11	OMIM:151100
HP:0000377	Abnormal pinna morphology	9775	EIF4A3	OMIM:268305
HP:0000377	Abnormal pinna morphology	26173	INTS1	OMIM:618571
HP:0000377	Abnormal pinna morphology	2703	GJA8	OMIM:612474
HP:0000377	Abnormal pinna morphology	2702	GJA5	OMIM:612474
HP:0000377	Abnormal pinna morphology	7046	TGFBR1	OMIM:609192
HP:0000377	Abnormal pinna morphology	2200	FBN1	ORPHA:2462
HP:0000377	Abnormal pinna morphology	3720	JARID2	OMIM:620098
HP:0000377	Abnormal pinna morphology	274	BIN1	ORPHA:169186
HP:0000377	Abnormal pinna morphology	10290	SPEG	ORPHA:169186
HP:0000377	Abnormal pinna morphology	6261	RYR1	ORPHA:169186
HP:0000377	Abnormal pinna morphology	7273	TTN	ORPHA:169186
HP:0000377	Abnormal pinna morphology	1291	COL6A1	OMIM:254090
HP:0000377	Abnormal pinna morphology	54517	PUS7	OMIM:618342
HP:0000377	Abnormal pinna morphology	2335	FN1	ORPHA:93315
HP:0000377	Abnormal pinna morphology	1280	COL2A1	ORPHA:93315
HP:0000377	Abnormal pinna morphology	2290	FOXG1	OMIM:613454
HP:0000377	Abnormal pinna morphology	2290	FOXG1	ORPHA:261144
HP:0000377	Abnormal pinna morphology	55628	ZNF407	OMIM:619557
HP:0000377	Abnormal pinna morphology	253738	EBF3	ORPHA:96148
HP:0000377	Abnormal pinna morphology	91179	SCARF2	OMIM:600920
HP:0000377	Abnormal pinna morphology	29998	BICRA	OMIM:619325
HP:0000377	Abnormal pinna morphology	6651	SON	OMIM:617140
HP:0000377	Abnormal pinna morphology	6651	SON	ORPHA:500150
HP:0000377	Abnormal pinna morphology	4081	MAB21L1	OMIM:618479
HP:0000377	Abnormal pinna morphology	65109	UPF3B	ORPHA:776
HP:0000377	Abnormal pinna morphology	4952	OCRL	ORPHA:534
HP:0000377	Abnormal pinna morphology	84892	POMGNT2	ORPHA:899
HP:0000377	Abnormal pinna morphology	148789	B3GALNT2	ORPHA:899
HP:0000377	Abnormal pinna morphology	79147	FKRP	ORPHA:899
HP:0000377	Abnormal pinna morphology	29954	POMT2	ORPHA:899
HP:0000377	Abnormal pinna morphology	9215	LARGE1	ORPHA:899
HP:0000377	Abnormal pinna morphology	1282	COL4A1	ORPHA:899
HP:0000377	Abnormal pinna morphology	729920	CRPPA	ORPHA:899
HP:0000377	Abnormal pinna morphology	10329	RXYLT1	ORPHA:899
HP:0000377	Abnormal pinna morphology	1605	DAG1	ORPHA:899
HP:0000377	Abnormal pinna morphology	11041	B4GAT1	ORPHA:899
HP:0000377	Abnormal pinna morphology	10585	POMT1	ORPHA:899
HP:0000377	Abnormal pinna morphology	84197	POMK	ORPHA:899
HP:0000377	Abnormal pinna morphology	2218	FKTN	ORPHA:899
HP:0000377	Abnormal pinna morphology	55624	POMGNT1	ORPHA:899
HP:0000377	Abnormal pinna morphology	5925	RB1	ORPHA:1587
HP:0000377	Abnormal pinna morphology	5831	PYCR1	OMIM:612940
HP:0000377	Abnormal pinna morphology	55764	IFT122	OMIM:218330
HP:0000377	Abnormal pinna morphology	5422	POLA1	OMIM:301030
HP:0000377	Abnormal pinna morphology	9496	TBX4	ORPHA:261279
HP:0000377	Abnormal pinna morphology	79576	NKAP	OMIM:301039
HP:0000377	Abnormal pinna morphology	51305	KCNK9	ORPHA:166108
HP:0000377	Abnormal pinna morphology	2707	GJB3	ORPHA:317
HP:0000377	Abnormal pinna morphology	2531	KDSR	ORPHA:317
HP:0000377	Abnormal pinna morphology	127534	GJB4	ORPHA:317
HP:0000377	Abnormal pinna morphology	57572	DOCK6	OMIM:614219
HP:0000377	Abnormal pinna morphology	64864	RFX7	OMIM:620330
HP:0000377	Abnormal pinna morphology	10847	SRCAP	OMIM:619595
HP:0000377	Abnormal pinna morphology	145173	B3GLCT	OMIM:261540
HP:0000377	Abnormal pinna morphology	1213	CLTC	OMIM:617854
HP:0000377	Abnormal pinna morphology	54361	WNT4	ORPHA:247768
HP:0000377	Abnormal pinna morphology	4659	PPP1R12A	OMIM:618820
HP:0000377	Abnormal pinna morphology	285590	SH3PXD2B	ORPHA:137834
HP:0000377	Abnormal pinna morphology	285590	SH3PXD2B	OMIM:249420
HP:0000377	Abnormal pinna morphology	5293	PIK3CD	ORPHA:221139
HP:0000377	Abnormal pinna morphology	90417	KNSTRN	ORPHA:221139
HP:0000377	Abnormal pinna morphology	8405	SPOP	OMIM:618829
HP:0000377	Abnormal pinna morphology	2131	EXT1	ORPHA:502
HP:0000377	Abnormal pinna morphology	55617	TASP1	OMIM:618950
HP:0000377	Abnormal pinna morphology	90416	CCDC32	OMIM:619123
HP:0000377	Abnormal pinna morphology	2260	FGFR1	ORPHA:2645
HP:0000377	Abnormal pinna morphology	3832	KIF11	ORPHA:2526
HP:0000377	Abnormal pinna morphology	3832	KIF11	OMIM:152950
HP:0000377	Abnormal pinna morphology	54676	GTPBP2	OMIM:617988
HP:0000377	Abnormal pinna morphology	23529	CLCF1	OMIM:610313
HP:0000377	Abnormal pinna morphology	80267	EDEM3	OMIM:619493
HP:0000377	Abnormal pinna morphology	1748	DLX4	OMIM:616788
HP:0000377	Abnormal pinna morphology	1804	DPP6	ORPHA:2514
HP:0000377	Abnormal pinna morphology	4001	LMNB1	ORPHA:2514
HP:0000377	Abnormal pinna morphology	85378	TUBGCP6	ORPHA:2518
HP:0000377	Abnormal pinna morphology	27229	TUBGCP4	ORPHA:2518
HP:0000377	Abnormal pinna morphology	84081	NSRP1	OMIM:620001
HP:0000377	Abnormal pinna morphology	4750	NEK1	ORPHA:2751
HP:0000377	Abnormal pinna morphology	139886	SPIN4	OMIM:301114
HP:0000377	Abnormal pinna morphology	57647	DHX37	OMIM:618731
HP:0000377	Abnormal pinna morphology	101929726	MYMX	OMIM:619941
HP:0000377	Abnormal pinna morphology	5699	PSMB10	OMIM:620807
HP:0000377	Abnormal pinna morphology	57728	WDR19	OMIM:614378
HP:0000377	Abnormal pinna morphology	10844	TUBGCP2	OMIM:618737
HP:0000377	Abnormal pinna morphology	30000	TNPO2	OMIM:619556
HP:0000377	Abnormal pinna morphology	5167	ENPP1	ORPHA:51608
HP:0000377	Abnormal pinna morphology	368	ABCC6	ORPHA:51608
HP:0000377	Abnormal pinna morphology	3784	KCNQ1	OMIM:130650
HP:0000377	Abnormal pinna morphology	10984	KCNQ1OT1	OMIM:130650
HP:0000377	Abnormal pinna morphology	1371	CPOX	ORPHA:79273
HP:0000377	Abnormal pinna morphology	5339	PLEC	ORPHA:158684
HP:0000377	Abnormal pinna morphology	5339	PLEC	OMIM:612138
HP:0000377	Abnormal pinna morphology	3691	ITGB4	ORPHA:158684
HP:0000377	Abnormal pinna morphology	51099	ABHD5	OMIM:275630
HP:0000377	Abnormal pinna morphology	57589	RIC1	OMIM:618761
HP:0000377	Abnormal pinna morphology	815	CAMK2A	OMIM:617798
HP:0000377	Abnormal pinna morphology	51199	NIN	OMIM:614851
HP:0000377	Abnormal pinna morphology	51199	NIN	ORPHA:319675
HP:0000377	Abnormal pinna morphology	8642	DCHS1	OMIM:601390
HP:0000377	Abnormal pinna morphology	8642	DCHS1	ORPHA:314679
HP:0000377	Abnormal pinna morphology	175	AGA	ORPHA:93
HP:0000377	Abnormal pinna morphology	55719	SLF2	OMIM:620184
HP:0000377	Abnormal pinna morphology	51163	DBR1	OMIM:620510
HP:0000377	Abnormal pinna morphology	55343	SLC35C1	ORPHA:99843
HP:0000377	Abnormal pinna morphology	4488	MSX2	OMIM:168550
HP:0000377	Abnormal pinna morphology	3313	HSPA9	OMIM:616854
HP:0000377	Abnormal pinna morphology	344167	FOXI3	OMIM:620444
HP:0000377	Abnormal pinna morphology	3209	HOXA13	ORPHA:2438
HP:0000377	Abnormal pinna morphology	2186	BPTF	ORPHA:529962
HP:0000377	Abnormal pinna morphology	1974	EIF4A2	OMIM:620455
HP:0000377	Abnormal pinna morphology	5058	PAK1	OMIM:618158
HP:0000377	Abnormal pinna morphology	3655	ITGA6	OMIM:619817
HP:0000377	Abnormal pinna morphology	7388	UQCRH	OMIM:620137
HP:0000377	Abnormal pinna morphology	6535	SLC6A8	OMIM:300352
HP:0000377	Abnormal pinna morphology	27086	FOXP1	ORPHA:391372
HP:0000377	Abnormal pinna morphology	27161	AGO2	OMIM:619149
HP:0000377	Abnormal pinna morphology	5053	PAH	ORPHA:2209
HP:0000377	Abnormal pinna morphology	10026	PIGK	OMIM:618879
HP:0000377	Abnormal pinna morphology	10992	SF3B2	OMIM:164210
HP:0000377	Abnormal pinna morphology	23522	KAT6B	ORPHA:3047
HP:0000377	Abnormal pinna morphology	64132	XYLT2	ORPHA:85194
HP:0000377	Abnormal pinna morphology	9343	EFTUD2	ORPHA:79113
HP:0000377	Abnormal pinna morphology	2121	EVC	ORPHA:952
HP:0000377	Abnormal pinna morphology	132884	EVC2	ORPHA:952
HP:0000377	Abnormal pinna morphology	8241	RBM10	ORPHA:2886
HP:0000377	Abnormal pinna morphology	10157	AASS	ORPHA:2203
HP:0000377	Abnormal pinna morphology	55275	VPS53	OMIM:615851
HP:0000377	Abnormal pinna morphology	5290	PIK3CA	OMIM:602501
HP:0000377	Abnormal pinna morphology	7358	UGDH	OMIM:618792
HP:0000377	Abnormal pinna morphology	7453	WARS1	OMIM:620317
HP:0000377	Abnormal pinna morphology	51085	MLXIPL	OMIM:194050
HP:0000377	Abnormal pinna morphology	7840	ALMS1	ORPHA:64
HP:0000377	Abnormal pinna morphology	526	ATP6V1B2	ORPHA:3473
HP:0000377	Abnormal pinna morphology	3782	KCNN3	ORPHA:3473
HP:0000377	Abnormal pinna morphology	3767	KCNJ11	ORPHA:79134
HP:0000377	Abnormal pinna morphology	79731	NARS2	ORPHA:79134
HP:0000377	Abnormal pinna morphology	6833	ABCC8	ORPHA:79134
HP:0000377	Abnormal pinna morphology	10908	PNPLA6	ORPHA:2377
HP:0000377	Abnormal pinna morphology	9361	LONP1	OMIM:600373
HP:0000377	Abnormal pinna morphology	9361	LONP1	ORPHA:1458
HP:0000377	Abnormal pinna morphology	2201	FBN2	OMIM:121050
HP:0000377	Abnormal pinna morphology	2201	FBN2	ORPHA:115
HP:0000377	Abnormal pinna morphology	23184	MESD	OMIM:618644
HP:0000377	Abnormal pinna morphology	2334	AFF2	ORPHA:100973
HP:0000377	Abnormal pinna morphology	91452	ACBD5	OMIM:618863
HP:0000377	Abnormal pinna morphology	157680	VPS13B	ORPHA:193
HP:0000377	Abnormal pinna morphology	5965	RECQL	OMIM:620370
HP:0000377	Abnormal pinna morphology	3097	HIVEP2	OMIM:616977
HP:0000377	Abnormal pinna morphology	9091	PIGQ	OMIM:618548
HP:0000377	Abnormal pinna morphology	11141	IL1RAPL1	OMIM:300143
HP:0000377	Abnormal pinna morphology	79813	EHMT1	ORPHA:261652
HP:0000377	Abnormal pinna morphology	58508	KMT2C	ORPHA:261652
HP:0000377	Abnormal pinna morphology	51741	WWOX	OMIM:616211
HP:0000377	Abnormal pinna morphology	5277	PIGA	OMIM:300868
HP:0000377	Abnormal pinna morphology	81887	LAS1L	ORPHA:3459
HP:0000377	Abnormal pinna morphology	6602	SMARCD1	OMIM:618779
HP:0000377	Abnormal pinna morphology	140679	SLC32A1	OMIM:620774
HP:0000377	Abnormal pinna morphology	100151683	RNU4ATAC	ORPHA:2636
HP:0000377	Abnormal pinna morphology	2239	GPC4	ORPHA:373
HP:0000377	Abnormal pinna morphology	2719	GPC3	ORPHA:373
HP:0000377	Abnormal pinna morphology	23384	SPECC1L	ORPHA:1519
HP:0000377	Abnormal pinna morphology	26040	SETBP1	ORPHA:798
HP:0000377	Abnormal pinna morphology	151516	ASPRV1	ORPHA:313
HP:0000377	Abnormal pinna morphology	242	ALOX12B	ORPHA:313
HP:0000377	Abnormal pinna morphology	126410	CYP4F22	ORPHA:313
HP:0000377	Abnormal pinna morphology	6820	SULT2B1	ORPHA:313
HP:0000377	Abnormal pinna morphology	26154	ABCA12	ORPHA:313
HP:0000377	Abnormal pinna morphology	643418	LIPN	ORPHA:313
HP:0000377	Abnormal pinna morphology	59344	ALOXE3	ORPHA:313
HP:0000377	Abnormal pinna morphology	348938	NIPAL4	ORPHA:313
HP:0000377	Abnormal pinna morphology	121214	SDR9C7	ORPHA:313
HP:0000377	Abnormal pinna morphology	7051	TGM1	ORPHA:313
HP:0000377	Abnormal pinna morphology	8604	SLC25A12	OMIM:612949
HP:0000377	Abnormal pinna morphology	4123	MAN2C1	OMIM:619775
HP:0000377	Abnormal pinna morphology	4076	CAPRIN1	OMIM:620782
HP:0000377	Abnormal pinna morphology	57003	CCDC47	OMIM:618268
HP:0000377	Abnormal pinna morphology	473	RERE	OMIM:616975
HP:0000377	Abnormal pinna morphology	2033	EP300	OMIM:180849
HP:0000377	Abnormal pinna morphology	7528	YY1	OMIM:617557
HP:0000377	Abnormal pinna morphology	2137	EXTL3	OMIM:617425
HP:0000377	Abnormal pinna morphology	54187	NANS	OMIM:610442
HP:0000377	Abnormal pinna morphology	57539	WDR35	OMIM:613610
HP:0000377	Abnormal pinna morphology	8449	DHX16	OMIM:618733
HP:0000377	Abnormal pinna morphology	55770	EXOC2	OMIM:619306
HP:0000377	Abnormal pinna morphology	6650	CAPN15	OMIM:619318
HP:0000377	Abnormal pinna morphology	145258	GSC	OMIM:602471
HP:0000377	Abnormal pinna morphology	2737	GLI3	ORPHA:672
HP:0000377	Abnormal pinna morphology	9734	HDAC9	OMIM:620457
HP:0000377	Abnormal pinna morphology	7703	PCGF2	OMIM:618371
HP:0000377	Abnormal pinna morphology	8913	CACNA1G	OMIM:618087
HP:0000377	Abnormal pinna morphology	3149	HMGB3	OMIM:300915
HP:0000377	Abnormal pinna morphology	2248	FGF3	OMIM:610706
HP:0000377	Abnormal pinna morphology	9702	CEP57	OMIM:614114
HP:0000377	Abnormal pinna morphology	5702	PSMC3	OMIM:619354
HP:0000377	Abnormal pinna morphology	7317	UBA1	OMIM:301054
HP:0000377	Abnormal pinna morphology	51780	KDM3B	OMIM:618846
HP:0000377	Abnormal pinna morphology	3703	STT3A	OMIM:619714
HP:0000377	Abnormal pinna morphology	1806	DPYD	ORPHA:293948
HP:0000377	Abnormal pinna morphology	5457	POU4F1	ORPHA:314647
HP:0004464	Postauricular pit	6850	SYK	OMIM:619381
HP:0004464	Postauricular pit	7020	TFAP2A	OMIM:113620
HP:0004464	Postauricular pit	7020	TFAP2A	ORPHA:1297
HP:0004464	Postauricular pit	2719	GPC3	OMIM:312870
HP:0004464	Postauricular pit	2239	GPC4	OMIM:312870
HP:0004463	Absent brainstem auditory responses	1678	TIMM8A	ORPHA:52368
HP:0004463	Absent brainstem auditory responses	9750	RIPOR2	OMIM:616515
HP:0004463	Absent brainstem auditory responses	3735	KARS1	ORPHA:3240
HP:0004463	Absent brainstem auditory responses	9381	OTOF	OMIM:601071
HP:0004463	Absent brainstem auditory responses	7841	MOGS	ORPHA:79330
HP:0004463	Absent brainstem auditory responses	4747	NEFL	ORPHA:101085
HP:0004463	Absent brainstem auditory responses	6663	SOX10	OMIM:609136
HP:0004463	Absent brainstem auditory responses	57731	SPTBN4	OMIM:617519
HP:0004463	Absent brainstem auditory responses	1161	ERCC8	ORPHA:90321
HP:0004463	Absent brainstem auditory responses	2072	ERCC4	ORPHA:90321
HP:0004463	Absent brainstem auditory responses	2074	ERCC6	ORPHA:90321
HP:0004463	Absent brainstem auditory responses	4976	OPA1	ORPHA:1215
HP:0001260	Dysarthria	26191	PTPN22	ORPHA:397
HP:0001260	Dysarthria	3106	HLA-B	ORPHA:397
HP:0001260	Dysarthria	3123	HLA-DRB1	ORPHA:397
HP:0001260	Dysarthria	8974	P4HA2	ORPHA:397
HP:0001260	Dysarthria	5274	SERPINI1	OMIM:604218
HP:0001260	Dysarthria	10749	KIF1C	ORPHA:397946
HP:0001260	Dysarthria	10749	KIF1C	OMIM:611302
HP:0001260	Dysarthria	1145	CHRNE	OMIM:608931
HP:0001260	Dysarthria	2673	GFPT1	OMIM:608931
HP:0001260	Dysarthria	4287	ATXN3	OMIM:109150
HP:0001260	Dysarthria	4287	ATXN3	OMIM:168600
HP:0001260	Dysarthria	4287	ATXN3	ORPHA:276238
HP:0001260	Dysarthria	4287	ATXN3	ORPHA:276244
HP:0001260	Dysarthria	4287	ATXN3	ORPHA:276241
HP:0001260	Dysarthria	23646	PLD3	OMIM:617770
HP:0001260	Dysarthria	55703	POLR3B	OMIM:614381
HP:0001260	Dysarthria	55703	POLR3B	OMIM:619742
HP:0001260	Dysarthria	55703	POLR3B	OMIM:607694
HP:0001260	Dysarthria	4099	MAG	OMIM:616680
HP:0001260	Dysarthria	91452	ACBD5	OMIM:618863
HP:0001260	Dysarthria	4750	NEK1	OMIM:617892
HP:0001260	Dysarthria	4750	NEK1	ORPHA:803
HP:0001260	Dysarthria	23446	SLC44A1	OMIM:618868
HP:0001260	Dysarthria	2895	GRID2	OMIM:616204
HP:0001260	Dysarthria	60684	TRAPPC11	OMIM:615356
HP:0001260	Dysarthria	5238	PGM3	ORPHA:443811
HP:0001260	Dysarthria	5238	PGM3	OMIM:615816
HP:0001260	Dysarthria	9254	CACNA2D2	OMIM:618501
HP:0001260	Dysarthria	11284	PNKP	ORPHA:459033
HP:0001260	Dysarthria	55733	HHAT	OMIM:600092
HP:0001260	Dysarthria	1134	CHRNA1	OMIM:608930
HP:0001260	Dysarthria	1134	CHRNA1	OMIM:601462
HP:0001260	Dysarthria	5457	POU4F1	ORPHA:314647
HP:0001260	Dysarthria	5457	POU4F1	OMIM:619352
HP:0001260	Dysarthria	23261	CAMTA1	ORPHA:314647
HP:0001260	Dysarthria	23261	CAMTA1	OMIM:614756
HP:0001260	Dysarthria	5521	PPP2R2B	OMIM:604326
HP:0001260	Dysarthria	6687	SPG7	ORPHA:99013
HP:0001260	Dysarthria	6687	SPG7	OMIM:607259
HP:0001260	Dysarthria	4072	EPCAM	ORPHA:144
HP:0001260	Dysarthria	4292	MLH1	ORPHA:144
HP:0001260	Dysarthria	5395	PMS2	ORPHA:144
HP:0001260	Dysarthria	7048	TGFBR2	ORPHA:144
HP:0001260	Dysarthria	3845	KRAS	ORPHA:144
HP:0001260	Dysarthria	3845	KRAS	ORPHA:648
HP:0001260	Dysarthria	3845	KRAS	ORPHA:1340
HP:0001260	Dysarthria	5290	PIK3CA	ORPHA:144
HP:0001260	Dysarthria	2956	MSH6	ORPHA:144
HP:0001260	Dysarthria	5378	PMS1	ORPHA:144
HP:0001260	Dysarthria	4436	MSH2	ORPHA:144
HP:0001260	Dysarthria	5604	MAP2K1	ORPHA:389
HP:0001260	Dysarthria	5604	MAP2K1	ORPHA:1340
HP:0001260	Dysarthria	4893	NRAS	ORPHA:389
HP:0001260	Dysarthria	4893	NRAS	ORPHA:648
HP:0001260	Dysarthria	673	BRAF	ORPHA:389
HP:0001260	Dysarthria	673	BRAF	ORPHA:1340
HP:0001260	Dysarthria	5631	PRPS1	ORPHA:99014
HP:0001260	Dysarthria	5354	PLP1	ORPHA:99015
HP:0001260	Dysarthria	5354	PLP1	ORPHA:280210
HP:0001260	Dysarthria	5354	PLP1	OMIM:312080
HP:0001260	Dysarthria	5354	PLP1	OMIM:312920
HP:0001260	Dysarthria	57165	GJC2	OMIM:608804
HP:0001260	Dysarthria	57165	GJC2	ORPHA:320401
HP:0001260	Dysarthria	57165	GJC2	OMIM:613206
HP:0001260	Dysarthria	3074	HEXB	ORPHA:309162
HP:0001260	Dysarthria	3074	HEXB	ORPHA:309169
HP:0001260	Dysarthria	3074	HEXB	OMIM:268800
HP:0001260	Dysarthria	5155	PDGFB	OMIM:615483
HP:0001260	Dysarthria	5155	PDGFB	OMIM:213600
HP:0001260	Dysarthria	8722	CTSF	OMIM:615362
HP:0001260	Dysarthria	5917	RARS1	ORPHA:438114
HP:0001260	Dysarthria	5917	RARS1	OMIM:616140
HP:0001260	Dysarthria	1644	DDC	ORPHA:35708
HP:0001260	Dysarthria	6616	SNAP25	OMIM:616330
HP:0001260	Dysarthria	10528	NOP56	OMIM:614153
HP:0001260	Dysarthria	10528	NOP56	ORPHA:276198
HP:0001260	Dysarthria	283489	CHAMP1	OMIM:616579
HP:0001260	Dysarthria	64218	SEMA4A	ORPHA:440437
HP:0001260	Dysarthria	472	ATM	ORPHA:440437
HP:0001260	Dysarthria	472	ATM	OMIM:208900
HP:0001260	Dysarthria	472	ATM	ORPHA:100
HP:0001260	Dysarthria	5426	POLE	ORPHA:440437
HP:0001260	Dysarthria	675	BRCA2	ORPHA:440437
HP:0001260	Dysarthria	657	BMPR1A	ORPHA:440437
HP:0001260	Dysarthria	6224	RPS20	ORPHA:440437
HP:0001260	Dysarthria	4595	MUTYH	ORPHA:440437
HP:0001260	Dysarthria	5424	POLD1	ORPHA:440437
HP:0001260	Dysarthria	11200	CHEK2	ORPHA:440437
HP:0001260	Dysarthria	101060691	NUTM2B-AS1	OMIM:618637
HP:0001260	Dysarthria	2670	GFAP	OMIM:203450
HP:0001260	Dysarthria	2670	GFAP	ORPHA:363722
HP:0001260	Dysarthria	2670	GFAP	ORPHA:363717
HP:0001260	Dysarthria	5610	EIF2AK2	OMIM:618877
HP:0001260	Dysarthria	57156	TMEM63C	OMIM:619966
HP:0001260	Dysarthria	27102	EIF2AK1	OMIM:618878
HP:0001260	Dysarthria	10908	PNPLA6	OMIM:275400
HP:0001260	Dysarthria	1476	CSTB	OMIM:254800
HP:0001260	Dysarthria	1476	CSTB	ORPHA:308
HP:0001260	Dysarthria	1161	ERCC8	OMIM:216400
HP:0001260	Dysarthria	100996717	NOTCH2NLC	OMIM:603472
HP:0001260	Dysarthria	100996717	NOTCH2NLC	OMIM:619473
HP:0001260	Dysarthria	100996717	NOTCH2NLC	ORPHA:2289
HP:0001260	Dysarthria	23400	ATP13A2	ORPHA:314632
HP:0001260	Dysarthria	23400	ATP13A2	OMIM:617225
HP:0001260	Dysarthria	23400	ATP13A2	ORPHA:513436
HP:0001260	Dysarthria	23400	ATP13A2	ORPHA:306674
HP:0001260	Dysarthria	23400	ATP13A2	OMIM:606693
HP:0001260	Dysarthria	2192	FBLN1	ORPHA:404451
HP:0001260	Dysarthria	284403	WDR62	OMIM:604317
HP:0001260	Dysarthria	410	ARSA	ORPHA:309271
HP:0001260	Dysarthria	410	ARSA	ORPHA:309263
HP:0001260	Dysarthria	410	ARSA	OMIM:250100
HP:0001260	Dysarthria	410	ARSA	ORPHA:309256
HP:0001260	Dysarthria	5660	PSAP	ORPHA:309271
HP:0001260	Dysarthria	5660	PSAP	ORPHA:309263
HP:0001260	Dysarthria	5660	PSAP	ORPHA:309256
HP:0001260	Dysarthria	5660	PSAP	OMIM:249900
HP:0001260	Dysarthria	10559	SLC35A1	OMIM:603585
HP:0001260	Dysarthria	146057	TTBK2	OMIM:604432
HP:0001260	Dysarthria	146057	TTBK2	ORPHA:98767
HP:0001260	Dysarthria	51816	ADA2	OMIM:182410
HP:0001260	Dysarthria	219285	SAMD9L	OMIM:159550
HP:0001260	Dysarthria	219285	SAMD9L	OMIM:619806
HP:0001260	Dysarthria	8575	PRKRA	ORPHA:210571
HP:0001260	Dysarthria	8575	PRKRA	OMIM:612067
HP:0001260	Dysarthria	348	APOE	OMIM:607822
HP:0001260	Dysarthria	5663	PSEN1	OMIM:607822
HP:0001260	Dysarthria	5832	ALDH18A1	OMIM:616586
HP:0001260	Dysarthria	5832	ALDH18A1	OMIM:601162
HP:0001260	Dysarthria	5832	ALDH18A1	ORPHA:447760
HP:0001260	Dysarthria	215	ABCD1	ORPHA:139399
HP:0001260	Dysarthria	215	ABCD1	ORPHA:139396
HP:0001260	Dysarthria	4137	MAPT	ORPHA:240071
HP:0001260	Dysarthria	4137	MAPT	OMIM:601104
HP:0001260	Dysarthria	4137	MAPT	ORPHA:240103
HP:0001260	Dysarthria	4137	MAPT	OMIM:168600
HP:0001260	Dysarthria	50484	RRM2B	OMIM:613077
HP:0001260	Dysarthria	50484	RRM2B	ORPHA:254892
HP:0001260	Dysarthria	50484	RRM2B	ORPHA:329336
HP:0001260	Dysarthria	64834	ELOVL1	OMIM:618527
HP:0001260	Dysarthria	51308	REEP2	OMIM:620606
HP:0001260	Dysarthria	51308	REEP2	OMIM:615625
HP:0001260	Dysarthria	10381	TUBB3	ORPHA:300570
HP:0001260	Dysarthria	7436	VLDLR	OMIM:224050
HP:0001260	Dysarthria	311	ANXA11	OMIM:619733
HP:0001260	Dysarthria	311	ANXA11	ORPHA:803
HP:0001260	Dysarthria	8560	DEGS1	OMIM:618404
HP:0001260	Dysarthria	85465	SELENOI	OMIM:618768
HP:0001260	Dysarthria	6513	SLC2A1	OMIM:601042
HP:0001260	Dysarthria	6513	SLC2A1	ORPHA:53583
HP:0001260	Dysarthria	6513	SLC2A1	ORPHA:71277
HP:0001260	Dysarthria	6513	SLC2A1	OMIM:606777
HP:0001260	Dysarthria	83480	PUS3	ORPHA:488627
HP:0001260	Dysarthria	5621	PRNP	OMIM:600072
HP:0001260	Dysarthria	5621	PRNP	OMIM:603218
HP:0001260	Dysarthria	5621	PRNP	ORPHA:356
HP:0001260	Dysarthria	5621	PRNP	ORPHA:466
HP:0001260	Dysarthria	5621	PRNP	ORPHA:157941
HP:0001260	Dysarthria	5621	PRNP	OMIM:137440
HP:0001260	Dysarthria	2697	GJA1	ORPHA:2710
HP:0001260	Dysarthria	2697	GJA1	OMIM:164200
HP:0001260	Dysarthria	10049	DNAJB6	ORPHA:34516
HP:0001260	Dysarthria	343641	TGM6	ORPHA:276193
HP:0001260	Dysarthria	343641	TGM6	OMIM:613908
HP:0001260	Dysarthria	55149	MTPAP	ORPHA:254343
HP:0001260	Dysarthria	55149	MTPAP	OMIM:613672
HP:0001260	Dysarthria	10715	CERS1	OMIM:616230
HP:0001260	Dysarthria	84504	NKX6-2	OMIM:617560
HP:0001260	Dysarthria	84504	NKX6-2	ORPHA:527497
HP:0001260	Dysarthria	10935	PRDX3	OMIM:619862
HP:0001260	Dysarthria	23312	DMXL2	OMIM:616113
HP:0001260	Dysarthria	23312	DMXL2	ORPHA:453533
HP:0001260	Dysarthria	83636	C19orf12	OMIM:614298
HP:0001260	Dysarthria	83636	C19orf12	OMIM:615043
HP:0001260	Dysarthria	833	CARS1	OMIM:618891
HP:0001260	Dysarthria	833	CARS1	ORPHA:33364
HP:0001260	Dysarthria	246243	RNASEH1	OMIM:616479
HP:0001260	Dysarthria	246243	RNASEH1	ORPHA:329336
HP:0001260	Dysarthria	80208	SPG11	ORPHA:2822
HP:0001260	Dysarthria	80208	SPG11	OMIM:602099
HP:0001260	Dysarthria	80208	SPG11	OMIM:604360
HP:0001260	Dysarthria	51271	UBAP1	OMIM:618418
HP:0001260	Dysarthria	51761	ATP8A2	OMIM:615268
HP:0001260	Dysarthria	1201	CLN3	OMIM:204200
HP:0001260	Dysarthria	54840	APTX	OMIM:208920
HP:0001260	Dysarthria	79731	NARS2	OMIM:616239
HP:0001260	Dysarthria	6905	TBCE	OMIM:617207
HP:0001260	Dysarthria	6905	TBCE	ORPHA:496756
HP:0001260	Dysarthria	284439	SLC25A42	OMIM:618416
HP:0001260	Dysarthria	950	SCARB2	OMIM:254900
HP:0001260	Dysarthria	950	SCARB2	ORPHA:308
HP:0001260	Dysarthria	4747	NEFL	ORPHA:101085
HP:0001260	Dysarthria	5373	PMM2	OMIM:212065
HP:0001260	Dysarthria	5192	PEX10	ORPHA:247815
HP:0001260	Dysarthria	5192	PEX10	OMIM:614871
HP:0001260	Dysarthria	477	ATP1A2	OMIM:602481
HP:0001260	Dysarthria	477	ATP1A2	ORPHA:569
HP:0001260	Dysarthria	477	ATP1A2	ORPHA:2131
HP:0001260	Dysarthria	9897	WASHC5	OMIM:603563
HP:0001260	Dysarthria	8398	PLA2G6	ORPHA:199351
HP:0001260	Dysarthria	8398	PLA2G6	OMIM:612953
HP:0001260	Dysarthria	8398	PLA2G6	OMIM:610217
HP:0001260	Dysarthria	8398	PLA2G6	ORPHA:35069
HP:0001260	Dysarthria	8622	PDE8B	ORPHA:228169
HP:0001260	Dysarthria	8622	PDE8B	OMIM:609161
HP:0001260	Dysarthria	253738	EBF3	OMIM:617330
HP:0001260	Dysarthria	9895	TECPR2	OMIM:615031
HP:0001260	Dysarthria	9895	TECPR2	ORPHA:320385
HP:0001260	Dysarthria	2911	GRM1	OMIM:617691
HP:0001260	Dysarthria	2911	GRM1	OMIM:614831
HP:0001260	Dysarthria	10717	AP4B1	OMIM:614066
HP:0001260	Dysarthria	11277	TREX1	OMIM:192315
HP:0001260	Dysarthria	55773	TBC1D23	OMIM:617695
HP:0001260	Dysarthria	23259	DDHD2	OMIM:615033
HP:0001260	Dysarthria	23259	DDHD2	ORPHA:320380
HP:0001260	Dysarthria	55280	CWF19L1	OMIM:616127
HP:0001260	Dysarthria	55280	CWF19L1	ORPHA:453521
HP:0001260	Dysarthria	54902	TTC19	OMIM:615157
HP:0001260	Dysarthria	391356	PTRHD1	OMIM:620747
HP:0001260	Dysarthria	55823	VPS11	OMIM:619637
HP:0001260	Dysarthria	2705	GJB1	ORPHA:101075
HP:0001260	Dysarthria	2705	GJB1	OMIM:302800
HP:0001260	Dysarthria	93986	FOXP2	ORPHA:251061
HP:0001260	Dysarthria	93986	FOXP2	ORPHA:209908
HP:0001260	Dysarthria	1822	ATN1	ORPHA:101
HP:0001260	Dysarthria	111	ADCY5	OMIM:606703
HP:0001260	Dysarthria	111	ADCY5	OMIM:619647
HP:0001260	Dysarthria	111	ADCY5	ORPHA:324588
HP:0001260	Dysarthria	4311	MME	ORPHA:497764
HP:0001260	Dysarthria	4311	MME	OMIM:617018
HP:0001260	Dysarthria	1615	DARS1	OMIM:615281
HP:0001260	Dysarthria	8733	GPAA1	ORPHA:529665
HP:0001260	Dysarthria	8733	GPAA1	OMIM:617810
HP:0001260	Dysarthria	9474	ATG5	OMIM:617584
HP:0001260	Dysarthria	2720	GLB1	OMIM:230650
HP:0001260	Dysarthria	50485	SMARCAL1	ORPHA:1830
HP:0001260	Dysarthria	4076	CAPRIN1	OMIM:620636
HP:0001260	Dysarthria	6621	SNAPC4	OMIM:620515
HP:0001260	Dysarthria	22	ABCB7	ORPHA:2802
HP:0001260	Dysarthria	22	ABCB7	OMIM:301310
HP:0001260	Dysarthria	1356	CP	ORPHA:48818
HP:0001260	Dysarthria	1356	CP	OMIM:604290
HP:0001260	Dysarthria	146227	BEAN1	ORPHA:217012
HP:0001260	Dysarthria	146227	BEAN1	OMIM:117210
HP:0001260	Dysarthria	57462	MYORG	OMIM:618317
HP:0001260	Dysarthria	2729	GCLC	ORPHA:33574
HP:0001260	Dysarthria	540	ATP7B	OMIM:277900
HP:0001260	Dysarthria	540	ATP7B	ORPHA:905
HP:0001260	Dysarthria	9711	RUBCN	ORPHA:404499
HP:0001260	Dysarthria	9711	RUBCN	OMIM:615705
HP:0001260	Dysarthria	6785	ELOVL4	ORPHA:1955
HP:0001260	Dysarthria	6785	ELOVL4	OMIM:133190
HP:0001260	Dysarthria	10743	RAI1	ORPHA:1713
HP:0001260	Dysarthria	10667	FARS2	ORPHA:466722
HP:0001260	Dysarthria	4854	NOTCH3	ORPHA:136
HP:0001260	Dysarthria	5981	RFC1	ORPHA:504476
HP:0001260	Dysarthria	5981	RFC1	OMIM:614575
HP:0001260	Dysarthria	1436	CSF1R	OMIM:221820
HP:0001260	Dysarthria	1436	CSF1R	OMIM:618476
HP:0001260	Dysarthria	7143	TNR	OMIM:619653
HP:0001260	Dysarthria	6843	VAMP1	OMIM:618323
HP:0001260	Dysarthria	6843	VAMP1	OMIM:108600
HP:0001260	Dysarthria	2395	FXN	OMIM:229300
HP:0001260	Dysarthria	2395	FXN	ORPHA:95
HP:0001260	Dysarthria	57679	ALS2	OMIM:205100
HP:0001260	Dysarthria	57679	ALS2	ORPHA:293168
HP:0001260	Dysarthria	57679	ALS2	OMIM:607225
HP:0001260	Dysarthria	1107	CHD3	OMIM:618205
HP:0001260	Dysarthria	51322	WAC	ORPHA:466950
HP:0001260	Dysarthria	404672	GTF2H5	ORPHA:33364
HP:0001260	Dysarthria	2068	ERCC2	ORPHA:33364
HP:0001260	Dysarthria	2068	ERCC2	ORPHA:220295
HP:0001260	Dysarthria	7737	RNF113A	ORPHA:33364
HP:0001260	Dysarthria	136647	MPLKIP	ORPHA:33364
HP:0001260	Dysarthria	6897	TARS1	ORPHA:33364
HP:0001260	Dysarthria	16	AARS1	ORPHA:33364
HP:0001260	Dysarthria	2071	ERCC3	ORPHA:33364
HP:0001260	Dysarthria	2071	ERCC3	ORPHA:220295
HP:0001260	Dysarthria	2961	GTF2E2	ORPHA:33364
HP:0001260	Dysarthria	1967	EIF2B1	OMIM:603896
HP:0001260	Dysarthria	5654	HTRA1	OMIM:600142
HP:0001260	Dysarthria	85300	ATCAY	OMIM:601238
HP:0001260	Dysarthria	85300	ATCAY	ORPHA:94122
HP:0001260	Dysarthria	367	AR	ORPHA:481
HP:0001260	Dysarthria	367	AR	OMIM:313200
HP:0001260	Dysarthria	2512	FTL	ORPHA:157846
HP:0001260	Dysarthria	2512	FTL	OMIM:606159
HP:0001260	Dysarthria	26100	WIPI2	OMIM:618453
HP:0001260	Dysarthria	54903	MKS1	OMIM:617121
HP:0001260	Dysarthria	10533	ATG7	OMIM:619422
HP:0001260	Dysarthria	81570	CLPB	OMIM:616271
HP:0001260	Dysarthria	79734	KCTD17	OMIM:616398
HP:0001260	Dysarthria	120	ADD3	OMIM:617008
HP:0001260	Dysarthria	2583	B4GALNT1	OMIM:609195
HP:0001260	Dysarthria	6709	SPTAN1	OMIM:620538
HP:0001260	Dysarthria	4001	LMNB1	ORPHA:99027
HP:0001260	Dysarthria	7080	NKX2-1	OMIM:610978
HP:0001260	Dysarthria	7080	NKX2-1	ORPHA:209905
HP:0001260	Dysarthria	7080	NKX2-1	OMIM:118700
HP:0001260	Dysarthria	4594	MMUT	ORPHA:79312
HP:0001260	Dysarthria	2260	FGFR1	ORPHA:478
HP:0001260	Dysarthria	10371	SEMA3A	ORPHA:478
HP:0001260	Dysarthria	81848	SPRY4	ORPHA:478
HP:0001260	Dysarthria	23767	FLRT3	ORPHA:478
HP:0001260	Dysarthria	128674	PROKR2	ORPHA:478
HP:0001260	Dysarthria	79625	NDNF	ORPHA:478
HP:0001260	Dysarthria	2253	FGF8	ORPHA:478
HP:0001260	Dysarthria	389549	FEZF1	ORPHA:478
HP:0001260	Dysarthria	1630	DCC	ORPHA:478
HP:0001260	Dysarthria	3730	ANOS1	ORPHA:478
HP:0001260	Dysarthria	54756	IL17RD	ORPHA:478
HP:0001260	Dysarthria	6663	SOX10	ORPHA:478
HP:0001260	Dysarthria	285025	CCDC141	ORPHA:478
HP:0001260	Dysarthria	60675	PROK2	ORPHA:478
HP:0001260	Dysarthria	55636	CHD7	ORPHA:478
HP:0001260	Dysarthria	1848	DUSP6	ORPHA:478
HP:0001260	Dysarthria	6870	TACR3	ORPHA:478
HP:0001260	Dysarthria	55717	WDR11	ORPHA:478
HP:0001260	Dysarthria	9394	HS6ST1	ORPHA:478
HP:0001260	Dysarthria	8820	HESX1	ORPHA:478
HP:0001260	Dysarthria	8822	FGF17	ORPHA:478
HP:0001260	Dysarthria	2639	GCDH	ORPHA:25
HP:0001260	Dysarthria	291	SLC25A4	ORPHA:254892
HP:0001260	Dysarthria	5428	POLG	ORPHA:254892
HP:0001260	Dysarthria	5428	POLG	OMIM:258450
HP:0001260	Dysarthria	5428	POLG	ORPHA:254881
HP:0001260	Dysarthria	5428	POLG	OMIM:157640
HP:0001260	Dysarthria	5428	POLG	ORPHA:94125
HP:0001260	Dysarthria	5428	POLG	OMIM:607459
HP:0001260	Dysarthria	5428	POLG	ORPHA:70595
HP:0001260	Dysarthria	56652	TWNK	ORPHA:254892
HP:0001260	Dysarthria	56652	TWNK	OMIM:609286
HP:0001260	Dysarthria	56652	TWNK	OMIM:607459
HP:0001260	Dysarthria	56652	TWNK	ORPHA:70595
HP:0001260	Dysarthria	11232	POLG2	ORPHA:254892
HP:0001260	Dysarthria	353116	RILPL1	OMIM:619790
HP:0001260	Dysarthria	84706	GPT2	OMIM:616281
HP:0001260	Dysarthria	84706	GPT2	ORPHA:477673
HP:0001260	Dysarthria	23111	SPART	OMIM:275900
HP:0001260	Dysarthria	23111	SPART	ORPHA:101000
HP:0001260	Dysarthria	3155	HMGCL	ORPHA:20
HP:0001260	Dysarthria	4728	NDUFS8	OMIM:618222
HP:0001260	Dysarthria	374291	NDUFS7	OMIM:618224
HP:0001260	Dysarthria	23345	SYNE1	ORPHA:88644
HP:0001260	Dysarthria	23345	SYNE1	OMIM:610743
HP:0001260	Dysarthria	79876	UBA5	OMIM:617133
HP:0001260	Dysarthria	2495	FTH1	OMIM:620669
HP:0001260	Dysarthria	53371	NUP54	OMIM:620427
HP:0001260	Dysarthria	53371	NUP54	ORPHA:225154
HP:0001260	Dysarthria	51117	COQ4	OMIM:620666
HP:0001260	Dysarthria	4703	NEB	OMIM:256030
HP:0001260	Dysarthria	144165	PRICKLE1	ORPHA:308
HP:0001260	Dysarthria	144165	PRICKLE1	OMIM:612437
HP:0001260	Dysarthria	27235	COQ2	OMIM:146500
HP:0001260	Dysarthria	27235	COQ2	ORPHA:98933
HP:0001260	Dysarthria	27235	COQ2	ORPHA:227510
HP:0001260	Dysarthria	27235	COQ2	OMIM:607426
HP:0001260	Dysarthria	3708	ITPR1	ORPHA:208513
HP:0001260	Dysarthria	3708	ITPR1	OMIM:117360
HP:0001260	Dysarthria	3708	ITPR1	OMIM:606658
HP:0001260	Dysarthria	3208	HPCA	ORPHA:99657
HP:0001260	Dysarthria	3208	HPCA	OMIM:224500
HP:0001260	Dysarthria	170302	ARX	ORPHA:94083
HP:0001260	Dysarthria	170302	ARX	OMIM:309510
HP:0001260	Dysarthria	6548	SLC9A1	OMIM:616291
HP:0001260	Dysarthria	2581	GALC	ORPHA:206443
HP:0001260	Dysarthria	6567	SLC16A2	OMIM:300523
HP:0001260	Dysarthria	81790	RNF170	OMIM:619686
HP:0001260	Dysarthria	81790	RNF170	OMIM:608984
HP:0001260	Dysarthria	440193	CCDC88C	OMIM:616053
HP:0001260	Dysarthria	440193	CCDC88C	ORPHA:423275
HP:0001260	Dysarthria	478	ATP1A3	OMIM:601338
HP:0001260	Dysarthria	478	ATP1A3	OMIM:614820
HP:0001260	Dysarthria	478	ATP1A3	OMIM:128235
HP:0001260	Dysarthria	478	ATP1A3	ORPHA:2131
HP:0001260	Dysarthria	478	ATP1A3	ORPHA:71517
HP:0001260	Dysarthria	23114	NFASC	OMIM:618356
HP:0001260	Dysarthria	25814	ATXN10	OMIM:603516
HP:0001260	Dysarthria	25814	ATXN10	ORPHA:98761
HP:0001260	Dysarthria	55182	RNF220	OMIM:619688
HP:0001260	Dysarthria	63895	PIEZO2	OMIM:617146
HP:0001260	Dysarthria	8878	SQSTM1	OMIM:617145
HP:0001260	Dysarthria	8878	SQSTM1	ORPHA:275872
HP:0001260	Dysarthria	8878	SQSTM1	ORPHA:803
HP:0001260	Dysarthria	8878	SQSTM1	OMIM:616437
HP:0001260	Dysarthria	79133	NDUFAF5	OMIM:618238
HP:0001260	Dysarthria	137682	NDUFAF6	OMIM:618239
HP:0001260	Dysarthria	5010	CLDN11	OMIM:619328
HP:0001260	Dysarthria	8891	EIF2B3	OMIM:620313
HP:0001260	Dysarthria	8890	EIF2B4	OMIM:620314
HP:0001260	Dysarthria	8892	EIF2B2	OMIM:620312
HP:0001260	Dysarthria	154881	KCTD7	OMIM:611726
HP:0001260	Dysarthria	154881	KCTD7	ORPHA:263516
HP:0001260	Dysarthria	65055	REEP1	ORPHA:101011
HP:0001260	Dysarthria	65055	REEP1	OMIM:610250
HP:0001260	Dysarthria	5994	RFXAP	ORPHA:572
HP:0001260	Dysarthria	4261	CIITA	ORPHA:572
HP:0001260	Dysarthria	5993	RFX5	ORPHA:572
HP:0001260	Dysarthria	8625	RFXANK	ORPHA:572
HP:0001260	Dysarthria	7084	TK2	ORPHA:254875
HP:0001260	Dysarthria	7084	TK2	OMIM:617069
HP:0001260	Dysarthria	84340	GFM2	ORPHA:565624
HP:0001260	Dysarthria	84340	GFM2	OMIM:618397
HP:0001260	Dysarthria	56915	EXOSC5	OMIM:619576
HP:0001260	Dysarthria	4704	NDUFA9	OMIM:618247
HP:0001260	Dysarthria	29978	UBQLN2	OMIM:300857
HP:0001260	Dysarthria	29978	UBQLN2	ORPHA:803
HP:0001260	Dysarthria	4125	MAN2B1	OMIM:248500
HP:0001260	Dysarthria	80224	NUBPL	OMIM:618242
HP:0001260	Dysarthria	267010	RNU12	OMIM:620208
HP:0001260	Dysarthria	267010	RNU12	ORPHA:512260
HP:0001260	Dysarthria	54834	GDAP2	OMIM:618369
HP:0001260	Dysarthria	51704	GPRC5B	OMIM:620447
HP:0001260	Dysarthria	361	AQP4	OMIM:620448
HP:0001260	Dysarthria	84188	FAR1	OMIM:619338
HP:0001260	Dysarthria	4141	MARS1	OMIM:620323
HP:0001260	Dysarthria	116442	RAB39B	OMIM:311510
HP:0001260	Dysarthria	23203	PMPCA	OMIM:213200
HP:0001260	Dysarthria	23203	PMPCA	ORPHA:1170
HP:0001260	Dysarthria	549	AUH	OMIM:250950
HP:0001260	Dysarthria	4864	NPC1	OMIM:257220
HP:0001260	Dysarthria	773	CACNA1A	ORPHA:569
HP:0001260	Dysarthria	773	CACNA1A	OMIM:183086
HP:0001260	Dysarthria	773	CACNA1A	OMIM:108500
HP:0001260	Dysarthria	773	CACNA1A	ORPHA:97
HP:0001260	Dysarthria	773	CACNA1A	ORPHA:2131
HP:0001260	Dysarthria	773	CACNA1A	ORPHA:98758
HP:0001260	Dysarthria	112476	PRRT2	ORPHA:569
HP:0001260	Dysarthria	6323	SCN1A	ORPHA:569
HP:0001260	Dysarthria	4547	MTTP	ORPHA:14
HP:0001260	Dysarthria	7703	PCGF2	OMIM:618371
HP:0001260	Dysarthria	1781	DYNC1I2	OMIM:618492
HP:0001260	Dysarthria	51102	MECR	OMIM:617282
HP:0001260	Dysarthria	51102	MECR	ORPHA:508093
HP:0001260	Dysarthria	463	ZFHX3	OMIM:600223
HP:0001260	Dysarthria	5903	RANBP2	ORPHA:88619
HP:0001260	Dysarthria	6712	SPTBN2	OMIM:600224
HP:0001260	Dysarthria	6712	SPTBN2	ORPHA:352403
HP:0001260	Dysarthria	2332	FMR1	OMIM:300623
HP:0001260	Dysarthria	2332	FMR1	ORPHA:93256
HP:0001260	Dysarthria	9757	KMT2B	OMIM:617284
HP:0001260	Dysarthria	9757	KMT2B	ORPHA:589618
HP:0001260	Dysarthria	1814	DRD3	OMIM:190300
HP:0001260	Dysarthria	127833	SYT2	OMIM:619461
HP:0001260	Dysarthria	4700	NDUFA6	OMIM:618253
HP:0001260	Dysarthria	1200	TPP1	OMIM:609270
HP:0001260	Dysarthria	1200	TPP1	ORPHA:284324
HP:0001260	Dysarthria	6304	SATB1	OMIM:619228
HP:0001260	Dysarthria	6304	SATB1	OMIM:619229
HP:0001260	Dysarthria	84668	HYCC1	OMIM:610532
HP:0001260	Dysarthria	2065	ERBB3	OMIM:243180
HP:0001260	Dysarthria	64374	SIL1	ORPHA:559
HP:0001260	Dysarthria	64374	SIL1	OMIM:248800
HP:0001260	Dysarthria	220296	HEPACAM	OMIM:613925
HP:0001260	Dysarthria	29967	LRP12	OMIM:620452
HP:0001260	Dysarthria	29967	LRP12	OMIM:164310
HP:0001260	Dysarthria	9256	TSPOAP1	OMIM:620453
HP:0001260	Dysarthria	6697	SPR	OMIM:612716
HP:0001260	Dysarthria	3028	HSD17B10	ORPHA:391428
HP:0001260	Dysarthria	3028	HSD17B10	OMIM:300438
HP:0001260	Dysarthria	1938	EEF2	ORPHA:101112
HP:0001260	Dysarthria	1938	EEF2	OMIM:609306
HP:0001260	Dysarthria	84265	POLR3GL	OMIM:619234
HP:0001260	Dysarthria	65260	COA7	OMIM:618387
HP:0001260	Dysarthria	27107	ZBTB11	OMIM:618383
HP:0001260	Dysarthria	64849	SLC13A3	OMIM:618384
HP:0001260	Dysarthria	10846	PDE10A	ORPHA:494526
HP:0001260	Dysarthria	10846	PDE10A	OMIM:616921
HP:0001260	Dysarthria	7415	VCP	ORPHA:435387
HP:0001260	Dysarthria	7415	VCP	OMIM:613954
HP:0001260	Dysarthria	7415	VCP	ORPHA:275872
HP:0001260	Dysarthria	7415	VCP	ORPHA:803
HP:0001260	Dysarthria	4361	MRE11	ORPHA:251347
HP:0001260	Dysarthria	4361	MRE11	OMIM:604391
HP:0001260	Dysarthria	7345	UCHL1	OMIM:620221
HP:0001260	Dysarthria	246329	STAC3	ORPHA:168572
HP:0001260	Dysarthria	378884	NHLRC1	ORPHA:501
HP:0001260	Dysarthria	7957	EPM2A	ORPHA:501
HP:0001260	Dysarthria	7504	XK	OMIM:300842
HP:0001260	Dysarthria	128240	NAXE	OMIM:617186
HP:0001260	Dysarthria	23230	VPS13A	OMIM:200150
HP:0001260	Dysarthria	23230	VPS13A	ORPHA:2388
HP:0001260	Dysarthria	5173	PDYN	ORPHA:101108
HP:0001260	Dysarthria	5173	PDYN	OMIM:610245
HP:0001260	Dysarthria	55145	THAP1	OMIM:602629
HP:0001260	Dysarthria	55145	THAP1	ORPHA:98806
HP:0001260	Dysarthria	10939	AFG3L2	ORPHA:101109
HP:0001260	Dysarthria	10939	AFG3L2	OMIM:610246
HP:0001260	Dysarthria	10939	AFG3L2	OMIM:614487
HP:0001260	Dysarthria	79152	FA2H	ORPHA:171629
HP:0001260	Dysarthria	79152	FA2H	ORPHA:329308
HP:0001260	Dysarthria	79152	FA2H	OMIM:612319
HP:0001260	Dysarthria	2799	GNS	OMIM:252940
HP:0001260	Dysarthria	26278	SACS	OMIM:270550
HP:0001260	Dysarthria	26278	SACS	ORPHA:98
HP:0001260	Dysarthria	4508	MT-ATP6	ORPHA:225154
HP:0001260	Dysarthria	4508	MT-ATP6	ORPHA:254913
HP:0001260	Dysarthria	23636	NUP62	ORPHA:225154
HP:0001260	Dysarthria	103	ADAR	ORPHA:225154
HP:0001260	Dysarthria	6571	SLC18A2	OMIM:618049
HP:0001260	Dysarthria	6571	SLC18A2	ORPHA:352649
HP:0001260	Dysarthria	3739	KCNA4	OMIM:618284
HP:0001260	Dysarthria	2733	GLE1	OMIM:611890
HP:0001260	Dysarthria	2733	GLE1	ORPHA:803
HP:0001260	Dysarthria	10273	STUB1	ORPHA:412057
HP:0001260	Dysarthria	10273	STUB1	OMIM:618093
HP:0001260	Dysarthria	10273	STUB1	OMIM:615768
HP:0001260	Dysarthria	727676	SNORD118	ORPHA:542310
HP:0001260	Dysarthria	727676	SNORD118	OMIM:614561
HP:0001260	Dysarthria	9997	SCO2	ORPHA:521411
HP:0001260	Dysarthria	9997	SCO2	OMIM:604377
HP:0001260	Dysarthria	22800	RRAS2	ORPHA:648
HP:0001260	Dysarthria	867	CBL	ORPHA:648
HP:0001260	Dysarthria	8216	LZTR1	ORPHA:648
HP:0001260	Dysarthria	6016	RIT1	ORPHA:648
HP:0001260	Dysarthria	6237	RRAS	ORPHA:648
HP:0001260	Dysarthria	5894	RAF1	ORPHA:648
HP:0001260	Dysarthria	22808	MRAS	ORPHA:648
HP:0001260	Dysarthria	200734	SPRED2	ORPHA:648
HP:0001260	Dysarthria	6654	SOS1	ORPHA:648
HP:0001260	Dysarthria	6655	SOS2	ORPHA:648
HP:0001260	Dysarthria	5781	PTPN11	ORPHA:648
HP:0001260	Dysarthria	5922	RASA2	ORPHA:648
HP:0001260	Dysarthria	875	CBS	OMIM:236200
HP:0001260	Dysarthria	81615	TMEM163	OMIM:620243
HP:0001260	Dysarthria	5216	PFN1	OMIM:614808
HP:0001260	Dysarthria	5216	PFN1	ORPHA:803
HP:0001260	Dysarthria	54936	ADPRS	OMIM:618170
HP:0001260	Dysarthria	899	CCNF	OMIM:619141
HP:0001260	Dysarthria	899	CCNF	ORPHA:803
HP:0001260	Dysarthria	129285	PPP1R21	OMIM:619383
HP:0001260	Dysarthria	80704	SLC19A3	ORPHA:263410
HP:0001260	Dysarthria	80704	SLC19A3	OMIM:607483
HP:0001260	Dysarthria	27072	VPS41	OMIM:619389
HP:0001260	Dysarthria	27072	VPS41	ORPHA:95434
HP:0001260	Dysarthria	284361	EMC10	OMIM:619264
HP:0001260	Dysarthria	25793	FBXO7	OMIM:260300
HP:0001260	Dysarthria	341208	HEPHL1	OMIM:261990
HP:0001260	Dysarthria	2629	GBA1	OMIM:168600
HP:0001260	Dysarthria	126	ADH1C	OMIM:168600
HP:0001260	Dysarthria	4576	MT-TT	OMIM:168600
HP:0001260	Dysarthria	9627	SNCAIP	OMIM:168600
HP:0001260	Dysarthria	6908	TBP	OMIM:168600
HP:0001260	Dysarthria	6908	TBP	OMIM:607136
HP:0001260	Dysarthria	4929	NR4A2	OMIM:168600
HP:0001260	Dysarthria	6311	ATXN2	OMIM:168600
HP:0001260	Dysarthria	6311	ATXN2	OMIM:183090
HP:0001260	Dysarthria	6311	ATXN2	ORPHA:98756
HP:0001260	Dysarthria	6311	ATXN2	ORPHA:803
HP:0001260	Dysarthria	6315	ATXN8OS	OMIM:168600
HP:0001260	Dysarthria	6315	ATXN8OS	OMIM:608768
HP:0001260	Dysarthria	4771	NF2	ORPHA:637
HP:0001260	Dysarthria	6622	SNCA	OMIM:168601
HP:0001260	Dysarthria	50640	PNPLA8	OMIM:251950
HP:0001260	Dysarthria	1639	DCTN1	OMIM:168605
HP:0001260	Dysarthria	1639	DCTN1	ORPHA:803
HP:0001260	Dysarthria	1639	DCTN1	OMIM:105400
HP:0001260	Dysarthria	55129	ANO10	OMIM:613728
HP:0001260	Dysarthria	55129	ANO10	ORPHA:284289
HP:0001260	Dysarthria	60481	ELOVL5	ORPHA:423296
HP:0001260	Dysarthria	60481	ELOVL5	OMIM:615957
HP:0001260	Dysarthria	8085	KMT2D	OMIM:147920
HP:0001260	Dysarthria	7403	KDM6A	OMIM:147920
HP:0001260	Dysarthria	4352	MPL	ORPHA:71493
HP:0001260	Dysarthria	7066	THPO	ORPHA:71493
HP:0001260	Dysarthria	3717	JAK2	ORPHA:71493
HP:0001260	Dysarthria	2643	GCH1	OMIM:128230
HP:0001260	Dysarthria	23769	FLRT1	ORPHA:320406
HP:0001260	Dysarthria	64837	KLC2	ORPHA:320406
HP:0001260	Dysarthria	64837	KLC2	OMIM:609541
HP:0001260	Dysarthria	91574	MTRFR	ORPHA:254930
HP:0001260	Dysarthria	91574	MTRFR	OMIM:613559
HP:0001260	Dysarthria	23019	CNOT1	OMIM:619033
HP:0001260	Dysarthria	55532	SLC30A10	ORPHA:309854
HP:0001260	Dysarthria	55532	SLC30A10	OMIM:613280
HP:0001260	Dysarthria	9782	MATR3	OMIM:606070
HP:0001260	Dysarthria	9782	MATR3	ORPHA:600
HP:0001260	Dysarthria	9782	MATR3	ORPHA:803
HP:0001260	Dysarthria	400916	CHCHD10	OMIM:615911
HP:0001260	Dysarthria	400916	CHCHD10	ORPHA:275872
HP:0001260	Dysarthria	400916	CHCHD10	ORPHA:803
HP:0001260	Dysarthria	785	CACNB4	OMIM:613855
HP:0001260	Dysarthria	785	CACNB4	ORPHA:211067
HP:0001260	Dysarthria	785	CACNB4	OMIM:607682
HP:0001260	Dysarthria	2521	FUS	ORPHA:275872
HP:0001260	Dysarthria	2521	FUS	ORPHA:803
HP:0001260	Dysarthria	23435	TARDBP	ORPHA:275872
HP:0001260	Dysarthria	23435	TARDBP	ORPHA:803
HP:0001260	Dysarthria	23435	TARDBP	OMIM:612069
HP:0001260	Dysarthria	29110	TBK1	ORPHA:275872
HP:0001260	Dysarthria	29110	TBK1	ORPHA:803
HP:0001260	Dysarthria	29110	TBK1	OMIM:616439
HP:0001260	Dysarthria	5111	PCNA	OMIM:615919
HP:0001260	Dysarthria	25914	RTTN	OMIM:614833
HP:0001260	Dysarthria	25914	RTTN	ORPHA:468631
HP:0001260	Dysarthria	9640	ZNF592	ORPHA:83472
HP:0001260	Dysarthria	84942	WDR73	ORPHA:83472
HP:0001260	Dysarthria	224	ALDH3A2	ORPHA:816
HP:0001260	Dysarthria	10847	SRCAP	ORPHA:2044
HP:0001260	Dysarthria	6507	SLC1A3	OMIM:612656
HP:0001260	Dysarthria	6507	SLC1A3	ORPHA:2131
HP:0001260	Dysarthria	54476	RNF216	OMIM:212840
HP:0001260	Dysarthria	51324	SPG21	OMIM:248900
HP:0001260	Dysarthria	3736	KCNA1	ORPHA:972
HP:0001260	Dysarthria	3736	KCNA1	OMIM:160120
HP:0001260	Dysarthria	3736	KCNA1	ORPHA:37612
HP:0001260	Dysarthria	51204	TACO1	OMIM:619052
HP:0001260	Dysarthria	4509	MT-ATP8	ORPHA:254913
HP:0001260	Dysarthria	514	ATP5F1E	ORPHA:254913
HP:0001260	Dysarthria	513	ATP5F1D	ORPHA:254913
HP:0001260	Dysarthria	498	ATP5F1A	ORPHA:254913
HP:0001260	Dysarthria	84833	ATP5MK	ORPHA:254913
HP:0001260	Dysarthria	91647	ATPAF2	ORPHA:254913
HP:0001260	Dysarthria	116228	COX20	OMIM:619054
HP:0001260	Dysarthria	64207	IRF2BPL	OMIM:618088
HP:0001260	Dysarthria	274	BIN1	OMIM:255200
HP:0001260	Dysarthria	274	BIN1	ORPHA:169186
HP:0001260	Dysarthria	55157	DARS2	ORPHA:137898
HP:0001260	Dysarthria	55157	DARS2	OMIM:611105
HP:0001260	Dysarthria	129607	CMPK2	OMIM:621018
HP:0001260	Dysarthria	6575	SLC20A2	OMIM:213600
HP:0001260	Dysarthria	5159	PDGFRB	OMIM:213600
HP:0001260	Dysarthria	9570	GOSR2	OMIM:620166
HP:0001260	Dysarthria	9570	GOSR2	OMIM:614018
HP:0001260	Dysarthria	7276	TTR	OMIM:105210
HP:0001260	Dysarthria	55187	VPS13D	ORPHA:95434
HP:0001260	Dysarthria	55187	VPS13D	OMIM:607317
HP:0001260	Dysarthria	823	CAPN1	OMIM:616907
HP:0001260	Dysarthria	823	CAPN1	ORPHA:488594
HP:0001260	Dysarthria	84334	COA8	OMIM:619061
HP:0001260	Dysarthria	1678	TIMM8A	OMIM:304700
HP:0001260	Dysarthria	7274	TTPA	ORPHA:96
HP:0001260	Dysarthria	7274	TTPA	OMIM:277460
HP:0001260	Dysarthria	57531	HACE1	ORPHA:464282
HP:0001260	Dysarthria	7466	WFS1	OMIM:222300
HP:0001260	Dysarthria	7466	WFS1	ORPHA:3463
HP:0001260	Dysarthria	7156	TOP3A	OMIM:618098
HP:0001260	Dysarthria	4591	TRIM37	OMIM:253250
HP:0001260	Dysarthria	26090	ABHD12	OMIM:612674
HP:0001260	Dysarthria	55775	TDP1	OMIM:607250
HP:0001260	Dysarthria	60	ACTB	OMIM:607371
HP:0001260	Dysarthria	1600	DAB1	OMIM:615945
HP:0001260	Dysarthria	4598	MVK	OMIM:610377
HP:0001260	Dysarthria	10382	TUBB4A	OMIM:612438
HP:0001260	Dysarthria	57465	TBC1D24	OMIM:608105
HP:0001260	Dysarthria	57465	TBC1D24	ORPHA:352582
HP:0001260	Dysarthria	57465	TBC1D24	OMIM:605021
HP:0001260	Dysarthria	2259	FGF14	OMIM:620174
HP:0001260	Dysarthria	2259	FGF14	ORPHA:98764
HP:0001260	Dysarthria	2259	FGF14	OMIM:193003
HP:0001260	Dysarthria	3475	IFRD1	ORPHA:98771
HP:0001260	Dysarthria	3752	KCND3	ORPHA:98772
HP:0001260	Dysarthria	3752	KCND3	OMIM:607346
HP:0001260	Dysarthria	339453	TMEM240	ORPHA:98773
HP:0001260	Dysarthria	339453	TMEM240	OMIM:607454
HP:0001260	Dysarthria	84138	SLC7A6OS	OMIM:619191
HP:0001260	Dysarthria	1593	CYP27A1	ORPHA:909
HP:0001260	Dysarthria	27286	SRPX2	ORPHA:163721
HP:0001260	Dysarthria	27286	SRPX2	ORPHA:98889
HP:0001260	Dysarthria	2903	GRIN2A	ORPHA:163721
HP:0001260	Dysarthria	5828	PEX2	OMIM:614867
HP:0001260	Dysarthria	6804	STX1A	ORPHA:904
HP:0001260	Dysarthria	7461	CLIP2	ORPHA:904
HP:0001260	Dysarthria	84277	DNAJC30	ORPHA:904
HP:0001260	Dysarthria	8468	FKBP6	ORPHA:904
HP:0001260	Dysarthria	5982	RFC2	ORPHA:904
HP:0001260	Dysarthria	2969	GTF2I	ORPHA:904
HP:0001260	Dysarthria	3984	LIMK1	ORPHA:904
HP:0001260	Dysarthria	9569	GTF2IRD1	ORPHA:904
HP:0001260	Dysarthria	155382	VPS37D	ORPHA:904
HP:0001260	Dysarthria	155368	METTL27	ORPHA:904
HP:0001260	Dysarthria	114049	BUD23	ORPHA:904
HP:0001260	Dysarthria	7458	EIF4H	ORPHA:904
HP:0001260	Dysarthria	84163	GTF2IRD2	ORPHA:904
HP:0001260	Dysarthria	26608	TBL2	ORPHA:904
HP:0001260	Dysarthria	653361	NCF1	ORPHA:904
HP:0001260	Dysarthria	135886	TMEM270	ORPHA:904
HP:0001260	Dysarthria	9031	BAZ1B	ORPHA:904
HP:0001260	Dysarthria	2006	ELN	ORPHA:904
HP:0001260	Dysarthria	3211	HOXB1	OMIM:614744
HP:0001260	Dysarthria	90624	LYRM7	OMIM:615838
HP:0001260	Dysarthria	3748	KCNC3	ORPHA:98768
HP:0001260	Dysarthria	3748	KCNC3	OMIM:605259
HP:0001260	Dysarthria	9289	ADGRG1	ORPHA:98889
HP:0001260	Dysarthria	5297	PI4KA	ORPHA:98889
HP:0001260	Dysarthria	493856	CISD2	ORPHA:3463
HP:0001260	Dysarthria	5582	PRKCG	ORPHA:98763
HP:0001260	Dysarthria	5582	PRKCG	OMIM:605361
HP:0001260	Dysarthria	80025	PANK2	OMIM:234200
HP:0001260	Dysarthria	80025	PANK2	ORPHA:216873
HP:0001260	Dysarthria	80025	PANK2	ORPHA:216866
HP:0001260	Dysarthria	25894	PLEKHG4	ORPHA:98765
HP:0001260	Dysarthria	10613	ERLIN1	ORPHA:401785
HP:0001260	Dysarthria	10613	ERLIN1	OMIM:615681
HP:0001260	Dysarthria	23503	ZFYVE26	OMIM:270700
HP:0001260	Dysarthria	23503	ZFYVE26	ORPHA:100996
HP:0001260	Dysarthria	492	ATP2B3	OMIM:302500
HP:0001260	Dysarthria	3251	HPRT1	OMIM:300322
HP:0001260	Dysarthria	2934	GSN	ORPHA:85448
HP:0001260	Dysarthria	255928	SYT14	ORPHA:284271
HP:0001260	Dysarthria	255928	SYT14	OMIM:614229
HP:0001260	Dysarthria	9409	PEX16	OMIM:614877
HP:0001260	Dysarthria	84919	PPP1R15B	OMIM:616817
HP:0001260	Dysarthria	8106	PABPN1	OMIM:164300
HP:0001260	Dysarthria	6310	ATXN1	ORPHA:98755
HP:0001260	Dysarthria	6310	ATXN1	OMIM:164400
HP:0001260	Dysarthria	2937	GSS	OMIM:266130
HP:0001260	Dysarthria	51741	WWOX	ORPHA:284282
HP:0001260	Dysarthria	51741	WWOX	OMIM:614322
HP:0001260	Dysarthria	6611	SMS	OMIM:309583
HP:0001260	Dysarthria	10133	OPTN	OMIM:613435
HP:0001260	Dysarthria	10133	OPTN	ORPHA:803
HP:0001260	Dysarthria	2146	EZH2	OMIM:277590
HP:0001260	Dysarthria	10815	CPLX1	ORPHA:352582
HP:0001260	Dysarthria	57704	GBA2	OMIM:614409
HP:0001260	Dysarthria	200403	VWA3B	OMIM:616948
HP:0001260	Dysarthria	85021	REPS1	OMIM:617916
HP:0001260	Dysarthria	4556	MT-TE	ORPHA:2596
HP:0001260	Dysarthria	25978	CHMP2B	ORPHA:803
HP:0001260	Dysarthria	3178	HNRNPA1	ORPHA:803
HP:0001260	Dysarthria	8148	TAF15	ORPHA:803
HP:0001260	Dysarthria	5445	PON2	ORPHA:803
HP:0001260	Dysarthria	9217	VAPB	ORPHA:803
HP:0001260	Dysarthria	9217	VAPB	OMIM:608627
HP:0001260	Dysarthria	5630	PRPH	ORPHA:803
HP:0001260	Dysarthria	5630	PRPH	OMIM:105400
HP:0001260	Dysarthria	55830	GLT8D1	ORPHA:803
HP:0001260	Dysarthria	755	CFAP410	ORPHA:803
HP:0001260	Dysarthria	10891	PPARGC1A	ORPHA:803
HP:0001260	Dysarthria	6647	SOD1	ORPHA:803
HP:0001260	Dysarthria	6647	SOD1	OMIM:105400
HP:0001260	Dysarthria	9896	FIG4	ORPHA:803
HP:0001260	Dysarthria	5444	PON1	ORPHA:803
HP:0001260	Dysarthria	5446	PON3	ORPHA:803
HP:0001260	Dysarthria	4744	NEFH	ORPHA:803
HP:0001260	Dysarthria	4744	NEFH	OMIM:105400
HP:0001260	Dysarthria	54209	TREM2	ORPHA:803
HP:0001260	Dysarthria	283	ANG	ORPHA:803
HP:0001260	Dysarthria	1610	DAO	ORPHA:803
HP:0001260	Dysarthria	2066	ERBB4	ORPHA:803
HP:0001260	Dysarthria	23025	UNC13A	ORPHA:803
HP:0001260	Dysarthria	6314	ATXN7	ORPHA:94147
HP:0001260	Dysarthria	6314	ATXN7	OMIM:164500
HP:0001260	Dysarthria	80067	DCAF17	OMIM:241080
HP:0001260	Dysarthria	80207	OPA3	OMIM:258501
HP:0001260	Dysarthria	80207	OPA3	ORPHA:67047
HP:0001260	Dysarthria	55690	PACS1	ORPHA:329224
HP:0001260	Dysarthria	79628	SH3TC2	ORPHA:99949
HP:0001260	Dysarthria	23064	SETX	OMIM:606002
HP:0001260	Dysarthria	1861	TOR1A	OMIM:128100
HP:0001260	Dysarthria	4976	OPA1	OMIM:210000
HP:0001260	Dysarthria	11128	POLR3A	OMIM:607694
HP:0001260	Dysarthria	8729	GBF1	OMIM:606483
HP:0001260	Dysarthria	10290	SPEG	ORPHA:169186
HP:0001260	Dysarthria	6261	RYR1	ORPHA:169186
HP:0001260	Dysarthria	7273	TTN	ORPHA:169186
HP:0001260	Dysarthria	51062	ATL1	ORPHA:100984
HP:0001260	Dysarthria	55906	ZC4H2	OMIM:301041
HP:0001260	Dysarthria	92935	MARS2	OMIM:611390
HP:0001260	Dysarthria	6683	SPAST	ORPHA:100985
HP:0001260	Dysarthria	9420	CYP7B1	ORPHA:100986
HP:0001260	Dysarthria	9420	CYP7B1	OMIM:270800
HP:0001260	Dysarthria	5193	PEX12	OMIM:266510
HP:0001260	Dysarthria	124997	WDR81	OMIM:610185
HP:0001260	Dysarthria	9698	PUM1	OMIM:617931
HP:0001260	Dysarthria	6334	SCN8A	OMIM:614306
HP:0001260	Dysarthria	23600	AMACR	OMIM:614307
HP:0001260	Dysarthria	724066	ATXN8	OMIM:608768
HP:0001260	Dysarthria	125988	MICOS13	ORPHA:67047
HP:0001260	Dysarthria	473	RERE	OMIM:616975
HP:0001260	Dysarthria	80347	COASY	OMIM:615643
HP:0001260	Dysarthria	80347	COASY	ORPHA:397725
HP:0001260	Dysarthria	57505	AARS2	OMIM:615889
HP:0001260	Dysarthria	767	CA8	OMIM:613227
HP:0001260	Dysarthria	9829	DNAJC6	OMIM:615528
HP:0001260	Dysarthria	51218	GLRX5	OMIM:616859
HP:0001260	Dysarthria	26224	FBXL3	OMIM:606220
HP:0001260	Dysarthria	2592	GALT	ORPHA:79239
HP:0001260	Dysarthria	25953	PNKD	OMIM:118800
HP:0001260	Dysarthria	8867	SYNJ1	OMIM:615530
HP:0001260	Dysarthria	116150	NUS1	OMIM:617831
HP:0001260	Dysarthria	10352	WARS2	OMIM:617710
HP:0001260	Dysarthria	6331	SCN5A	ORPHA:1344
HP:0001260	Dysarthria	4878	NPPA	ORPHA:1344
HP:0001260	Dysarthria	4358	MPV17	OMIM:256810
HP:0001260	Dysarthria	2058	EPRS1	OMIM:617951
HP:0001260	Dysarthria	54974	THG1L	OMIM:618800
HP:0001260	Dysarthria	5605	MAP2K2	ORPHA:1340
HP:0001260	Dysarthria	1737	DLAT	ORPHA:79244
HP:0001260	Dysarthria	20	ABCA2	OMIM:618808
HP:0001260	Dysarthria	1641	DCX	OMIM:300067
HP:0001260	Dysarthria	54664	TMEM106B	OMIM:617964
HP:0001260	Dysarthria	128989	TANGO2	OMIM:616878
HP:0001260	Dysarthria	27010	TPK1	OMIM:614458
HP:0001260	Dysarthria	57338	JPH3	OMIM:606438
HP:0001260	Dysarthria	953	ENTPD1	ORPHA:401810
HP:0001260	Dysarthria	953	ENTPD1	OMIM:615683
HP:0001260	Dysarthria	56978	PRDM8	OMIM:616640
HP:0001260	Dysarthria	56978	PRDM8	ORPHA:324290
HP:0001260	Dysarthria	58494	JAM2	OMIM:618824
HP:0001260	Dysarthria	22934	RPIA	OMIM:608611
HP:0001260	Dysarthria	203228	C9orf72	OMIM:105550
HP:0001260	Dysarthria	7343	UBTF	ORPHA:500180
HP:0001260	Dysarthria	26503	SLC17A5	OMIM:604369
HP:0001260	Dysarthria	9213	XPR1	OMIM:616413
HP:0001260	Dysarthria	2890	GRIA1	OMIM:619927
HP:0001260	Dysarthria	3295	HSD17B4	OMIM:233400
HP:0001260	Dysarthria	2073	ERCC5	ORPHA:220295
HP:0001260	Dysarthria	2072	ERCC4	ORPHA:220295
HP:0001260	Dysarthria	9499	MYOT	ORPHA:98911
HP:0001260	Dysarthria	8292	COLQ	OMIM:603034
HP:0001260	Dysarthria	10577	NPC2	OMIM:607625
HP:0001260	Dysarthria	54888	NSUN2	OMIM:611091
HP:0001260	Dysarthria	210	ALAD	ORPHA:100924
HP:0001260	Dysarthria	8913	CACNA1G	ORPHA:458803
HP:0001260	Dysarthria	8913	CACNA1G	OMIM:616795
HP:0001260	Dysarthria	7518	XRCC4	OMIM:616541
HP:0001260	Dysarthria	1203	CLN5	OMIM:256731
HP:0001260	Dysarthria	7515	XRCC1	OMIM:617633
HP:0001260	Dysarthria	23533	PIK3R5	OMIM:615217
HP:0001260	Dysarthria	51684	SUFU	OMIM:617757
HP:0001260	Dysarthria	23389	MED13L	OMIM:616789
HP:0001260	Dysarthria	8086	AAAS	OMIM:231550
HP:0001260	Dysarthria	8139	GAN	OMIM:256850
HP:0001260	Dysarthria	87178	PNPT1	OMIM:608703
HP:0001260	Dysarthria	22978	NT5C2	OMIM:613162
HP:0001260	Dysarthria	131669	UROC1	ORPHA:210128
HP:0001260	Dysarthria	80169	CTC1	OMIM:612199
HP:0001260	Dysarthria	2196	FAT2	OMIM:617769
HP:0001260	Dysarthria	25782	RAB3GAP2	ORPHA:401830
HP:0001260	Dysarthria	9179	AP4M1	ORPHA:280763
HP:0001260	Dysarthria	11154	AP4S1	ORPHA:280763
HP:0001260	Dysarthria	23431	AP4E1	ORPHA:280763
HP:0001260	Dysarthria	5190	PEX6	ORPHA:95433
HP:0001260	Dysarthria	11160	ERLIN2	ORPHA:247604
HP:0001260	Dysarthria	4841	NONO	ORPHA:466791
HP:0001260	Dysarthria	22872	SEC31A	OMIM:618651
HP:0001260	Dysarthria	3145	HMBS	ORPHA:79276
HP:0001260	Dysarthria	7314	UBB	ORPHA:99771
HP:0001260	Dysarthria	57822	GRHL3	ORPHA:99771
HP:0001260	Dysarthria	92482	BBIP1	ORPHA:110
HP:0001260	Dysarthria	80184	CEP290	ORPHA:110
HP:0001260	Dysarthria	11020	IFT27	ORPHA:110
HP:0001260	Dysarthria	582	BBS1	ORPHA:110
HP:0001260	Dysarthria	49855	SCAPER	ORPHA:110
HP:0001260	Dysarthria	4867	NPHP1	ORPHA:110
HP:0001260	Dysarthria	51057	WDPCP	ORPHA:110
HP:0001260	Dysarthria	132320	SCLT1	ORPHA:110
HP:0001260	Dysarthria	27241	BBS9	ORPHA:110
HP:0001260	Dysarthria	84984	CEP19	ORPHA:110
HP:0001260	Dysarthria	22954	TRIM32	ORPHA:110
HP:0001260	Dysarthria	79738	BBS10	ORPHA:110
HP:0001260	Dysarthria	123016	TTC8	ORPHA:110
HP:0001260	Dysarthria	26160	IFT172	ORPHA:110
HP:0001260	Dysarthria	583	BBS2	ORPHA:110
HP:0001260	Dysarthria	585	BBS4	ORPHA:110
HP:0001260	Dysarthria	8195	MKKS	ORPHA:110
HP:0001260	Dysarthria	54585	LZTFL1	ORPHA:110
HP:0001260	Dysarthria	55212	BBS7	ORPHA:110
HP:0001260	Dysarthria	166379	BBS12	ORPHA:110
HP:0001260	Dysarthria	10806	SDCCAG8	ORPHA:110
HP:0001260	Dysarthria	157657	CFAP418	ORPHA:110
HP:0001260	Dysarthria	84100	ARL6	ORPHA:110
HP:0001260	Dysarthria	129880	BBS5	ORPHA:110
HP:0001260	Dysarthria	80173	IFT74	ORPHA:110
HP:0001260	Dysarthria	10755	GIPC1	ORPHA:98897
HP:0001262	Excessive daytime somnolence	55605	KIF21A	ORPHA:994
HP:0001262	Excessive daytime somnolence	4927	NUP88	ORPHA:994
HP:0001262	Excessive daytime somnolence	7846	TUBA1A	ORPHA:994
HP:0001262	Excessive daytime somnolence	4654	MYOD1	ORPHA:994
HP:0001262	Excessive daytime somnolence	54551	MAGEL2	ORPHA:994
HP:0001262	Excessive daytime somnolence	54551	MAGEL2	OMIM:176270
HP:0001262	Excessive daytime somnolence	4593	MUSK	ORPHA:994
HP:0001262	Excessive daytime somnolence	5913	RAPSN	ORPHA:994
HP:0001262	Excessive daytime somnolence	6572	SLC18A3	ORPHA:994
HP:0001262	Excessive daytime somnolence	285489	DOK7	ORPHA:994
HP:0001262	Excessive daytime somnolence	3064	HTT	ORPHA:399
HP:0001262	Excessive daytime somnolence	6515	SLC2A3	ORPHA:399
HP:0001262	Excessive daytime somnolence	8314	BAP1	ORPHA:2495
HP:0001262	Excessive daytime somnolence	4771	NF2	ORPHA:2495
HP:0001262	Excessive daytime somnolence	6598	SMARCB1	ORPHA:2495
HP:0001262	Excessive daytime somnolence	5155	PDGFB	ORPHA:2495
HP:0001262	Excessive daytime somnolence	84231	TRAF7	ORPHA:2495
HP:0001262	Excessive daytime somnolence	6608	SMO	ORPHA:2495
HP:0001262	Excessive daytime somnolence	207	AKT1	ORPHA:2495
HP:0001262	Excessive daytime somnolence	5290	PIK3CA	ORPHA:2495
HP:0001262	Excessive daytime somnolence	7015	TERT	ORPHA:2495
HP:0001262	Excessive daytime somnolence	51684	SUFU	ORPHA:2495
HP:0001262	Excessive daytime somnolence	6605	SMARCE1	ORPHA:2495
HP:0001262	Excessive daytime somnolence	84334	COA8	ORPHA:436271
HP:0001262	Excessive daytime somnolence	2705	GJB1	ORPHA:101075
HP:0001262	Excessive daytime somnolence	100033413	SNORD116-1	OMIM:176270
HP:0001262	Excessive daytime somnolence	8924	HERC2	OMIM:176270
HP:0001262	Excessive daytime somnolence	23742	NPAP1	OMIM:176270
HP:0001262	Excessive daytime somnolence	338433	SNORD115-1	OMIM:176270
HP:0001262	Excessive daytime somnolence	7681	MKRN3	OMIM:176270
HP:0001262	Excessive daytime somnolence	145624	PWAR1	OMIM:176270
HP:0001262	Excessive daytime somnolence	3653	IPW	OMIM:176270
HP:0001262	Excessive daytime somnolence	791114	PWRN1	OMIM:176270
HP:0001262	Excessive daytime somnolence	2203	FBP1	ORPHA:348
HP:0001262	Excessive daytime somnolence	3060	HCRT	OMIM:161400
HP:0001262	Excessive daytime somnolence	3060	HCRT	ORPHA:83465
HP:0001262	Excessive daytime somnolence	3060	HCRT	ORPHA:2073
HP:0001262	Excessive daytime somnolence	5631	PRPS1	ORPHA:99014
HP:0001262	Excessive daytime somnolence	3594	IL12RB1	ORPHA:186
HP:0001262	Excessive daytime somnolence	23534	TNPO3	ORPHA:186
HP:0001262	Excessive daytime somnolence	3592	IL12A	ORPHA:186
HP:0001262	Excessive daytime somnolence	6689	SPIB	ORPHA:186
HP:0001262	Excessive daytime somnolence	5450	POU2AF1	ORPHA:186
HP:0001262	Excessive daytime somnolence	9966	TNFSF15	ORPHA:186
HP:0001262	Excessive daytime somnolence	79258	MMEL1	ORPHA:186
HP:0001262	Excessive daytime somnolence	3663	IRF5	ORPHA:186
HP:0001262	Excessive daytime somnolence	3119	HLA-DQB1	ORPHA:83465
HP:0001262	Excessive daytime somnolence	3119	HLA-DQB1	ORPHA:2073
HP:0001262	Excessive daytime somnolence	22891	ZNF365	ORPHA:83465
HP:0001262	Excessive daytime somnolence	22891	ZNF365	ORPHA:2073
HP:0001262	Excessive daytime somnolence	3123	HLA-DRB1	ORPHA:83465
HP:0001262	Excessive daytime somnolence	3123	HLA-DRB1	ORPHA:2073
HP:0001262	Excessive daytime somnolence	57465	TBC1D24	ORPHA:352596
HP:0001262	Excessive daytime somnolence	4552	MTRR	ORPHA:2169
HP:0001262	Excessive daytime somnolence	1786	DNMT1	OMIM:614116
HP:0001262	Excessive daytime somnolence	1786	DNMT1	OMIM:604121
HP:0001262	Excessive daytime somnolence	1717	DHCR7	ORPHA:818
HP:0001262	Excessive daytime somnolence	1760	DMPK	OMIM:160900
HP:0001262	Excessive daytime somnolence	56652	TWNK	OMIM:271245
HP:0001262	Excessive daytime somnolence	29954	POMT2	OMIM:236670
HP:0001262	Excessive daytime somnolence	79147	FKRP	OMIM:236670
HP:0001262	Excessive daytime somnolence	2218	FKTN	OMIM:236670
HP:0001262	Excessive daytime somnolence	10585	POMT1	OMIM:236670
HP:0001262	Excessive daytime somnolence	9215	LARGE1	OMIM:236670
HP:0001262	Excessive daytime somnolence	38	ACAT1	ORPHA:134
HP:0001262	Excessive daytime somnolence	5805	PTS	OMIM:261640
HP:0001262	Excessive daytime somnolence	1512	CTSH	ORPHA:2073
HP:0001262	Excessive daytime somnolence	5032	P2RY11	ORPHA:2073
HP:0001262	Excessive daytime somnolence	4340	MOG	ORPHA:2073
HP:0001262	Excessive daytime somnolence	4340	MOG	OMIM:614250
HP:0001262	Excessive daytime somnolence	7292	TNFSF4	ORPHA:2073
HP:0001262	Excessive daytime somnolence	55870	ASH1L	OMIM:617796
HP:0001262	Excessive daytime somnolence	7555	CNBP	ORPHA:606
HP:0001262	Excessive daytime somnolence	1807	DPYS	OMIM:222748
HP:0001262	Excessive daytime somnolence	3155	HMGCL	OMIM:246450
HP:0001262	Excessive daytime somnolence	3145	HMBS	ORPHA:79276
HP:0001262	Excessive daytime somnolence	8260	NAA10	ORPHA:276432
HP:0001262	Excessive daytime somnolence	1188	CLCNKB	ORPHA:358
HP:0001262	Excessive daytime somnolence	6559	SLC12A3	ORPHA:358
HP:0001262	Excessive daytime somnolence	1499	CTNNB1	ORPHA:54595
HP:0001262	Excessive daytime somnolence	673	BRAF	ORPHA:54595
HP:0001262	Excessive daytime somnolence	7187	TRAF3	ORPHA:1930
HP:0001262	Excessive daytime somnolence	81622	UNC93B1	ORPHA:1930
HP:0001262	Excessive daytime somnolence	148022	TICAM1	ORPHA:1930
HP:0001262	Excessive daytime somnolence	7098	TLR3	ORPHA:1930
HP:0001262	Excessive daytime somnolence	29110	TBK1	ORPHA:1930
HP:0001262	Excessive daytime somnolence	6584	SLC22A5	OMIM:212140
HP:0001264	Spastic diplegia	1499	CTNNB1	OMIM:615075
HP:0001264	Spastic diplegia	8367	H4C5	OMIM:619950
HP:0001264	Spastic diplegia	54880	BCOR	OMIM:309800
HP:0001264	Spastic diplegia	8260	NAA10	OMIM:309800
HP:0001264	Spastic diplegia	8905	AP1S2	ORPHA:85335
HP:0001264	Spastic diplegia	6711	SPTBN1	OMIM:619475
HP:0001264	Spastic diplegia	25782	RAB3GAP2	OMIM:614225
HP:0001264	Spastic diplegia	25782	RAB3GAP2	OMIM:212720
HP:0001264	Spastic diplegia	4860	PNP	OMIM:613179
HP:0001264	Spastic diplegia	54820	NDE1	ORPHA:2177
HP:0001264	Spastic diplegia	8050	PDHX	ORPHA:255182
HP:0001264	Spastic diplegia	51218	GLRX5	ORPHA:401866
HP:0001264	Spastic diplegia	51218	GLRX5	OMIM:616859
HP:0001264	Spastic diplegia	2581	GALC	ORPHA:206443
HP:0001264	Spastic diplegia	2581	GALC	ORPHA:206436
HP:0001264	Spastic diplegia	2521	FUS	ORPHA:300605
HP:0001264	Spastic diplegia	80208	SPG11	ORPHA:300605
HP:0001264	Spastic diplegia	10280	SIGMAR1	ORPHA:300605
HP:0001264	Spastic diplegia	10558	SPTLC1	ORPHA:300605
HP:0001264	Spastic diplegia	57679	ALS2	ORPHA:300605
HP:0001264	Spastic diplegia	57679	ALS2	OMIM:205100
HP:0001264	Spastic diplegia	100147744	RNU7-1	OMIM:619487
HP:0001264	Spastic diplegia	6872	TAF1	OMIM:300966
HP:0001264	Spastic diplegia	6872	TAF1	ORPHA:480907
HP:0001264	Spastic diplegia	1615	DARS1	OMIM:615281
HP:0001264	Spastic diplegia	2316	FLNA	OMIM:300048
HP:0001264	Spastic diplegia	10157	AASS	ORPHA:2203
HP:0001264	Spastic diplegia	10157	AASS	ORPHA:3124
HP:0001264	Spastic diplegia	3295	HSD17B4	OMIM:233400
HP:0001264	Spastic diplegia	224	ALDH3A2	ORPHA:816
HP:0001264	Spastic diplegia	10084	PQBP1	ORPHA:93947
HP:0001264	Spastic diplegia	10166	SLC25A15	OMIM:238970
HP:0001264	Spastic diplegia	16	AARS1	OMIM:619691
HP:0001264	Spastic diplegia	55250	ELP2	OMIM:617270
HP:0001264	Spastic diplegia	54	ACP5	OMIM:607944
HP:0001264	Spastic diplegia	22930	RAB3GAP1	OMIM:600118
HP:0001264	Spastic diplegia	22930	RAB3GAP1	OMIM:619420
HP:0001264	Spastic diplegia	4915	NTRK2	OMIM:617830
HP:0001264	Spastic diplegia	10381	TUBB3	ORPHA:300570
HP:0001264	Spastic diplegia	5660	PSAP	ORPHA:206436
HP:0001264	Spastic diplegia	2639	GCDH	OMIM:231670
HP:0001264	Spastic diplegia	4697	NDUFA4	OMIM:619065
HP:0001264	Spastic diplegia	120	ADD3	OMIM:617008
HP:0001264	Spastic diplegia	128989	TANGO2	OMIM:616878
HP:0001264	Spastic diplegia	4990	SIX6	OMIM:206900
HP:0001264	Spastic diplegia	6657	SOX2	OMIM:206900
HP:0001264	Spastic diplegia	26834	RNU4-2	OMIM:620851
HP:0001264	Spastic diplegia	10075	HUWE1	OMIM:309590
HP:0001264	Spastic diplegia	3028	HSD17B10	ORPHA:391428
HP:0001269	Hemiparesis	5654	HTRA1	ORPHA:199354
HP:0001269	Hemiparesis	4558	MT-TF	ORPHA:550
HP:0001269	Hemiparesis	4558	MT-TF	OMIM:540000
HP:0001269	Hemiparesis	4572	MT-TQ	ORPHA:550
HP:0001269	Hemiparesis	4572	MT-TQ	OMIM:540000
HP:0001269	Hemiparesis	4512	MT-CO1	ORPHA:550
HP:0001269	Hemiparesis	4512	MT-CO1	OMIM:540000
HP:0001269	Hemiparesis	4513	MT-CO2	ORPHA:550
HP:0001269	Hemiparesis	4513	MT-CO2	OMIM:540000
HP:0001269	Hemiparesis	4514	MT-CO3	ORPHA:550
HP:0001269	Hemiparesis	4514	MT-CO3	OMIM:540000
HP:0001269	Hemiparesis	4578	MT-TW	ORPHA:550
HP:0001269	Hemiparesis	4578	MT-TW	OMIM:540000
HP:0001269	Hemiparesis	4540	MT-ND5	ORPHA:550
HP:0001269	Hemiparesis	4540	MT-ND5	OMIM:540000
HP:0001269	Hemiparesis	4541	MT-ND6	ORPHA:550
HP:0001269	Hemiparesis	4541	MT-ND6	OMIM:540000
HP:0001269	Hemiparesis	4535	MT-ND1	ORPHA:550
HP:0001269	Hemiparesis	4535	MT-ND1	OMIM:540000
HP:0001269	Hemiparesis	4538	MT-ND4	ORPHA:550
HP:0001269	Hemiparesis	4567	MT-TL1	ORPHA:550
HP:0001269	Hemiparesis	4567	MT-TL1	OMIM:540000
HP:0001269	Hemiparesis	4574	MT-TS1	ORPHA:550
HP:0001269	Hemiparesis	4574	MT-TS1	OMIM:540000
HP:0001269	Hemiparesis	4575	MT-TS2	ORPHA:550
HP:0001269	Hemiparesis	4575	MT-TS2	OMIM:540000
HP:0001269	Hemiparesis	4564	MT-TH	ORPHA:550
HP:0001269	Hemiparesis	4524	MTHFR	ORPHA:395
HP:0001269	Hemiparesis	2982	GUCY1A1	OMIM:615750
HP:0001269	Hemiparesis	11277	TREX1	OMIM:192315
HP:0001269	Hemiparesis	11277	TREX1	ORPHA:247691
HP:0001269	Hemiparesis	8314	BAP1	ORPHA:2495
HP:0001269	Hemiparesis	4771	NF2	ORPHA:2495
HP:0001269	Hemiparesis	4771	NF2	ORPHA:637
HP:0001269	Hemiparesis	6598	SMARCB1	ORPHA:2495
HP:0001269	Hemiparesis	5155	PDGFB	ORPHA:2495
HP:0001269	Hemiparesis	84231	TRAF7	ORPHA:2495
HP:0001269	Hemiparesis	6608	SMO	ORPHA:2495
HP:0001269	Hemiparesis	207	AKT1	ORPHA:2495
HP:0001269	Hemiparesis	5290	PIK3CA	ORPHA:2495
HP:0001269	Hemiparesis	5290	PIK3CA	ORPHA:99802
HP:0001269	Hemiparesis	7015	TERT	ORPHA:2495
HP:0001269	Hemiparesis	51684	SUFU	ORPHA:2495
HP:0001269	Hemiparesis	6605	SMARCE1	ORPHA:2495
HP:0001269	Hemiparesis	1282	COL4A1	OMIM:175780
HP:0001269	Hemiparesis	23600	AMACR	OMIM:614307
HP:0001269	Hemiparesis	7174	TPP2	ORPHA:444463
HP:0001269	Hemiparesis	51816	ADA2	ORPHA:820
HP:0001269	Hemiparesis	8405	SPOP	OMIM:618829
HP:0001269	Hemiparesis	2776	GNAQ	ORPHA:624
HP:0001269	Hemiparesis	478	ATP1A3	OMIM:601338
HP:0001269	Hemiparesis	1630	DCC	OMIM:617542
HP:0001269	Hemiparesis	50485	SMARCAL1	ORPHA:1830
HP:0001269	Hemiparesis	347733	TUBB2B	OMIM:610031
HP:0001269	Hemiparesis	347733	TUBB2B	ORPHA:300573
HP:0001269	Hemiparesis	57465	TBC1D24	ORPHA:352596
HP:0001269	Hemiparesis	57465	TBC1D24	OMIM:615338
HP:0001269	Hemiparesis	6507	SLC1A3	OMIM:612656
HP:0001269	Hemiparesis	29110	TBK1	OMIM:617900
HP:0001269	Hemiparesis	2475	MTOR	ORPHA:99802
HP:0001269	Hemiparesis	2475	MTOR	OMIM:607341
HP:0001269	Hemiparesis	10000	AKT3	ORPHA:99802
HP:0001269	Hemiparesis	10551	AGR2	OMIM:620233
HP:0001269	Hemiparesis	3516	RBPJ	ORPHA:974
HP:0001269	Hemiparesis	4851	NOTCH1	ORPHA:974
HP:0001269	Hemiparesis	57514	ARHGAP31	ORPHA:974
HP:0001269	Hemiparesis	57572	DOCK6	ORPHA:974
HP:0001269	Hemiparesis	285203	EOGT	ORPHA:974
HP:0001269	Hemiparesis	54567	DLL4	ORPHA:974
HP:0001269	Hemiparesis	284403	WDR62	OMIM:604317
HP:0001269	Hemiparesis	10059	DNM1L	ORPHA:98673
HP:0001269	Hemiparesis	4976	OPA1	ORPHA:98673
HP:0001269	Hemiparesis	4519	MT-CYB	OMIM:540000
HP:0001269	Hemiparesis	4511	MT-TC	OMIM:540000
HP:0001269	Hemiparesis	4577	MT-TV	OMIM:540000
HP:0001269	Hemiparesis	4566	MT-TK	OMIM:540000
HP:0001269	Hemiparesis	6513	SLC2A1	OMIM:606777
HP:0001269	Hemiparesis	6513	SLC2A1	ORPHA:71277
HP:0001269	Hemiparesis	23221	RHOBTB2	OMIM:618004
HP:0001269	Hemiparesis	215	ABCD1	ORPHA:139396
HP:0001269	Hemiparesis	9692	PRORP	OMIM:619737
HP:0001269	Hemiparesis	340665	CYP26C1	ORPHA:398189
HP:0001269	Hemiparesis	2260	FGFR1	ORPHA:2396
HP:0001269	Hemiparesis	3845	KRAS	ORPHA:2396
HP:0001269	Hemiparesis	55107	ANO1	OMIM:620687
HP:0001269	Hemiparesis	3431	SP110	ORPHA:79124
HP:0001269	Hemiparesis	3119	HLA-DQB1	OMIM:123400
HP:0001269	Hemiparesis	5621	PRNP	OMIM:123400
HP:0001269	Hemiparesis	3265	HRAS	ORPHA:2874
HP:0001269	Hemiparesis	773	CACNA1A	ORPHA:569
HP:0001269	Hemiparesis	773	CACNA1A	OMIM:141500
HP:0001269	Hemiparesis	112476	PRRT2	ORPHA:569
HP:0001269	Hemiparesis	6323	SCN1A	ORPHA:569
HP:0001269	Hemiparesis	6323	SCN1A	OMIM:609634
HP:0001269	Hemiparesis	477	ATP1A2	ORPHA:569
HP:0001269	Hemiparesis	477	ATP1A2	OMIM:602481
HP:0001269	Hemiparesis	7276	TTR	OMIM:105210
HP:0001269	Hemiparesis	7248	TSC1	OMIM:607341
HP:0001269	Hemiparesis	7249	TSC2	OMIM:607341
HP:0001269	Hemiparesis	2632	GBE1	ORPHA:206583
HP:0001269	Hemiparesis	6899	TBX1	OMIM:188400
HP:0001269	Hemiparesis	7098	TLR3	OMIM:613002
HP:0001269	Hemiparesis	8398	PLA2G6	OMIM:612953
HP:0001269	Hemiparesis	78987	CRELD1	OMIM:620771
HP:0001269	Hemiparesis	10878	CFHR3	OMIM:235400
HP:0001269	Hemiparesis	3075	CFH	OMIM:235400
HP:0001269	Hemiparesis	3078	CFHR1	OMIM:235400
HP:0001269	Hemiparesis	4854	NOTCH3	OMIM:125310
HP:0001269	Hemiparesis	55901	THSD1	ORPHA:231160
HP:0001269	Hemiparesis	7049	TGFBR3	ORPHA:231160
HP:0001269	Hemiparesis	1281	COL3A1	ORPHA:231160
HP:0001269	Hemiparesis	83854	ANGPTL6	ORPHA:231160
HP:0001269	Hemiparesis	2022	ENG	ORPHA:231160
HP:0001269	Hemiparesis	149233	IL23R	ORPHA:117
HP:0001269	Hemiparesis	6775	STAT4	ORPHA:117
HP:0001269	Hemiparesis	3586	IL10	ORPHA:117
HP:0001269	Hemiparesis	4210	MEFV	ORPHA:117
HP:0001269	Hemiparesis	1230	CCR1	ORPHA:117
HP:0001269	Hemiparesis	355	FAS	ORPHA:117
HP:0001269	Hemiparesis	3592	IL12A	ORPHA:117
HP:0001269	Hemiparesis	101928376	IL12A-AS1	ORPHA:117
HP:0001269	Hemiparesis	3106	HLA-B	ORPHA:117
HP:0001269	Hemiparesis	7099	TLR4	ORPHA:117
HP:0001269	Hemiparesis	3459	IFNGR1	ORPHA:117
HP:0001269	Hemiparesis	720	C4A	ORPHA:117
HP:0001269	Hemiparesis	337867	UBAC2	ORPHA:117
HP:0001269	Hemiparesis	51752	ERAP1	ORPHA:117
HP:0001269	Hemiparesis	8302	KLRC4	ORPHA:117
HP:0001269	Hemiparesis	79029	AFG2B	OMIM:619616
HP:0001269	Hemiparesis	3155	HMGCL	ORPHA:20
HP:0006958	Abnormal auditory evoked potentials	1678	TIMM8A	ORPHA:52368
HP:0006958	Abnormal auditory evoked potentials	9750	RIPOR2	OMIM:616515
HP:0006958	Abnormal auditory evoked potentials	3735	KARS1	ORPHA:3240
HP:0006958	Abnormal auditory evoked potentials	9381	OTOF	OMIM:601071
HP:0006958	Abnormal auditory evoked potentials	7841	MOGS	ORPHA:79330
HP:0006958	Abnormal auditory evoked potentials	4747	NEFL	ORPHA:101085
HP:0006958	Abnormal auditory evoked potentials	6663	SOX10	OMIM:609136
HP:0006958	Abnormal auditory evoked potentials	57731	SPTBN4	OMIM:617519
HP:0006958	Abnormal auditory evoked potentials	2072	ERCC4	ORPHA:90321
HP:0006958	Abnormal auditory evoked potentials	79628	SH3TC2	OMIM:601596
HP:0006958	Abnormal auditory evoked potentials	2581	GALC	ORPHA:206443
HP:0006958	Abnormal auditory evoked potentials	2581	GALC	ORPHA:206448
HP:0006958	Abnormal auditory evoked potentials	2581	GALC	ORPHA:206436
HP:0006958	Abnormal auditory evoked potentials	84668	HYCC1	OMIM:610532
HP:0006958	Abnormal auditory evoked potentials	5660	PSAP	ORPHA:206436
HP:0006958	Abnormal auditory evoked potentials	51501	HIKESHI	OMIM:616881
HP:0006958	Abnormal auditory evoked potentials	10682	EBP	ORPHA:401973
HP:0006958	Abnormal auditory evoked potentials	64802	NMNAT1	OMIM:619260
HP:0006958	Abnormal auditory evoked potentials	2074	ERCC6	OMIM:133540
HP:0006958	Abnormal auditory evoked potentials	1910	EDNRB	OMIM:600501
HP:0006958	Abnormal auditory evoked potentials	10397	NDRG1	OMIM:601455
HP:0006958	Abnormal auditory evoked potentials	81624	DIAPH3	OMIM:609129
HP:0006958	Abnormal auditory evoked potentials	4621	MYH3	OMIM:193700
HP:0006958	Abnormal auditory evoked potentials	57165	GJC2	ORPHA:320401
HP:0006958	Abnormal auditory evoked potentials	1593	CYP27A1	ORPHA:909
HP:0006958	Abnormal auditory evoked potentials	9181	ARHGEF2	OMIM:617523
HP:0006958	Abnormal auditory evoked potentials	4976	OPA1	OMIM:125250
HP:0006958	Abnormal auditory evoked potentials	1161	ERCC8	OMIM:216400
HP:0006958	Abnormal auditory evoked potentials	4001	LMNB1	ORPHA:99027
HP:0006958	Abnormal auditory evoked potentials	8898	MTMR2	OMIM:601382
HP:0004459	Exostosis of the external auditory canal	1146	CHRNG	OMIM:265000
HP:0004459	Exostosis of the external auditory canal	10526	IPO8	OMIM:619472
HP:0004459	Exostosis of the external auditory canal	207	AKT1	ORPHA:744
HP:0004458	Dilatated internal auditory canal	5456	POU3F4	OMIM:304400
HP:0004458	Dilatated internal auditory canal	5456	POU3F4	ORPHA:1435
HP:0004458	Dilatated internal auditory canal	2706	GJB2	OMIM:304400
HP:0004458	Dilatated internal auditory canal	10804	GJB6	OMIM:304400
HP:0004458	Dilatated internal auditory canal	2138	EYA1	OMIM:602588
HP:0004458	Dilatated internal auditory canal	2138	EYA1	OMIM:113650
HP:0004458	Dilatated internal auditory canal	6495	SIX1	OMIM:113650
HP:0000248	Brachycephaly	6857	SYT1	ORPHA:522077
HP:0000248	Brachycephaly	2273	FHL1	OMIM:300280
HP:0000248	Brachycephaly	5189	PEX1	OMIM:214100
HP:0000248	Brachycephaly	121340	SP7	OMIM:613849
HP:0000248	Brachycephaly	5573	PRKAR1A	ORPHA:950
HP:0000248	Brachycephaly	5573	PRKAR1A	OMIM:101800
HP:0000248	Brachycephaly	5144	PDE4D	ORPHA:950
HP:0000248	Brachycephaly	5144	PDE4D	ORPHA:439822
HP:0000248	Brachycephaly	8243	SMC1A	OMIM:300590
HP:0000248	Brachycephaly	8243	SMC1A	ORPHA:199
HP:0000248	Brachycephaly	2294	FOXF1	OMIM:265380
HP:0000248	Brachycephaly	2218	FKTN	ORPHA:272
HP:0000248	Brachycephaly	158	ADSL	OMIM:103050
HP:0000248	Brachycephaly	158	ADSL	ORPHA:46
HP:0000248	Brachycephaly	23394	ADNP	ORPHA:404448
HP:0000248	Brachycephaly	8367	H4C5	OMIM:619950
HP:0000248	Brachycephaly	104	ADARB1	OMIM:618862
HP:0000248	Brachycephaly	4750	NEK1	OMIM:263520
HP:0000248	Brachycephaly	55503	TRPV6	OMIM:618188
HP:0000248	Brachycephaly	1947	EFNB1	ORPHA:1520
HP:0000248	Brachycephaly	1947	EFNB1	OMIM:304110
HP:0000248	Brachycephaly	5885	RAD21	OMIM:614701
HP:0000248	Brachycephaly	5885	RAD21	ORPHA:199
HP:0000248	Brachycephaly	145173	B3GLCT	ORPHA:709
HP:0000248	Brachycephaly	2261	FGFR3	ORPHA:53271
HP:0000248	Brachycephaly	2261	FGFR3	ORPHA:93262
HP:0000248	Brachycephaly	2261	FGFR3	ORPHA:35099
HP:0000248	Brachycephaly	2261	FGFR3	ORPHA:794
HP:0000248	Brachycephaly	2261	FGFR3	OMIM:612247
HP:0000248	Brachycephaly	2261	FGFR3	OMIM:602849
HP:0000248	Brachycephaly	7518	XRCC4	ORPHA:99812
HP:0000248	Brachycephaly	3981	LIG4	ORPHA:99812
HP:0000248	Brachycephaly	3981	LIG4	OMIM:606593
HP:0000248	Brachycephaly	55777	MBD5	ORPHA:228402
HP:0000248	Brachycephaly	55777	MBD5	OMIM:156200
HP:0000248	Brachycephaly	23126	POGZ	ORPHA:468678
HP:0000248	Brachycephaly	23126	POGZ	OMIM:616364
HP:0000248	Brachycephaly	10084	PQBP1	ORPHA:93950
HP:0000248	Brachycephaly	10084	PQBP1	OMIM:309500
HP:0000248	Brachycephaly	55209	SETD5	ORPHA:404440
HP:0000248	Brachycephaly	55209	SETD5	OMIM:615761
HP:0000248	Brachycephaly	5447	POR	ORPHA:95699
HP:0000248	Brachycephaly	5447	POR	OMIM:201750
HP:0000248	Brachycephaly	5447	POR	OMIM:207410
HP:0000248	Brachycephaly	4125	MAN2B1	ORPHA:309282
HP:0000248	Brachycephaly	267010	RNU12	OMIM:603116
HP:0000248	Brachycephaly	267010	RNU12	ORPHA:85199
HP:0000248	Brachycephaly	3021	H3-3B	OMIM:619721
HP:0000248	Brachycephaly	89910	UBE3B	OMIM:244450
HP:0000248	Brachycephaly	89910	UBE3B	ORPHA:2707
HP:0000248	Brachycephaly	4010	LMX1B	ORPHA:495818
HP:0000248	Brachycephaly	6812	STXBP1	ORPHA:495818
HP:0000248	Brachycephaly	2201	FBN2	OMIM:121050
HP:0000248	Brachycephaly	2314	FLII	ORPHA:819
HP:0000248	Brachycephaly	23096	IQSEC2	ORPHA:819
HP:0000248	Brachycephaly	23096	IQSEC2	OMIM:309530
HP:0000248	Brachycephaly	10743	RAI1	ORPHA:819
HP:0000248	Brachycephaly	10743	RAI1	OMIM:182290
HP:0000248	Brachycephaly	10522	DEAF1	ORPHA:819
HP:0000248	Brachycephaly	10522	DEAF1	OMIM:615828
HP:0000248	Brachycephaly	25782	RAB3GAP2	OMIM:212720
HP:0000248	Brachycephaly	25782	RAB3GAP2	ORPHA:1387
HP:0000248	Brachycephaly	25782	RAB3GAP2	OMIM:614225
HP:0000248	Brachycephaly	23384	SPECC1L	ORPHA:1519
HP:0000248	Brachycephaly	6023	RMRP	ORPHA:175
HP:0000248	Brachycephaly	6023	RMRP	OMIM:250250
HP:0000248	Brachycephaly	84992	PIGY	ORPHA:247262
HP:0000248	Brachycephaly	84720	PIGO	ORPHA:247262
HP:0000248	Brachycephaly	93210	PGAP3	ORPHA:247262
HP:0000248	Brachycephaly	284098	PIGW	ORPHA:247262
HP:0000248	Brachycephaly	27315	PGAP2	ORPHA:247262
HP:0000248	Brachycephaly	55650	PIGV	ORPHA:247262
HP:0000248	Brachycephaly	9487	PIGL	ORPHA:247262
HP:0000248	Brachycephaly	9487	PIGL	ORPHA:3474
HP:0000248	Brachycephaly	9487	PIGL	OMIM:280000
HP:0000248	Brachycephaly	2892	GRIA3	OMIM:300699
HP:0000248	Brachycephaly	2892	GRIA3	ORPHA:364028
HP:0000248	Brachycephaly	129685	TAF8	OMIM:619972
HP:0000248	Brachycephaly	2590	GALNT2	OMIM:618885
HP:0000248	Brachycephaly	57492	ARID1B	OMIM:135900
HP:0000248	Brachycephaly	80204	FBXO11	OMIM:618089
HP:0000248	Brachycephaly	10606	PAICS	OMIM:619859
HP:0000248	Brachycephaly	815	CAMK2A	OMIM:617798
HP:0000248	Brachycephaly	23184	MESD	OMIM:618644
HP:0000248	Brachycephaly	93627	TBCK	OMIM:616900
HP:0000248	Brachycephaly	2260	FGFR1	ORPHA:93258
HP:0000248	Brachycephaly	2263	FGFR2	ORPHA:93258
HP:0000248	Brachycephaly	2263	FGFR2	OMIM:101400
HP:0000248	Brachycephaly	2263	FGFR2	OMIM:101200
HP:0000248	Brachycephaly	2263	FGFR2	ORPHA:794
HP:0000248	Brachycephaly	2263	FGFR2	OMIM:123500
HP:0000248	Brachycephaly	2263	FGFR2	OMIM:207410
HP:0000248	Brachycephaly	2263	FGFR2	ORPHA:207
HP:0000248	Brachycephaly	4313	MMP2	ORPHA:371428
HP:0000248	Brachycephaly	4313	MMP2	OMIM:259600
HP:0000248	Brachycephaly	4323	MMP14	ORPHA:371428
HP:0000248	Brachycephaly	259232	NALCN	ORPHA:562528
HP:0000248	Brachycephaly	259232	NALCN	OMIM:615419
HP:0000248	Brachycephaly	9401	RECQL4	OMIM:218600
HP:0000248	Brachycephaly	9401	RECQL4	ORPHA:1225
HP:0000248	Brachycephaly	652	BMP4	OMIM:607932
HP:0000248	Brachycephaly	54476	RNF216	ORPHA:1173
HP:0000248	Brachycephaly	10908	PNPLA6	ORPHA:1173
HP:0000248	Brachycephaly	10908	PNPLA6	ORPHA:2377
HP:0000248	Brachycephaly	51651	PTRH2	ORPHA:456312
HP:0000248	Brachycephaly	51651	PTRH2	OMIM:616263
HP:0000248	Brachycephaly	4330	MN1	OMIM:618774
HP:0000248	Brachycephaly	79813	EHMT1	OMIM:610253
HP:0000248	Brachycephaly	79813	EHMT1	ORPHA:261652
HP:0000248	Brachycephaly	79813	EHMT1	ORPHA:96147
HP:0000248	Brachycephaly	1009	CDH11	ORPHA:1299
HP:0000248	Brachycephaly	1009	CDH11	OMIM:211380
HP:0000248	Brachycephaly	7291	TWIST1	OMIM:101400
HP:0000248	Brachycephaly	7291	TWIST1	ORPHA:35099
HP:0000248	Brachycephaly	7291	TWIST1	ORPHA:794
HP:0000248	Brachycephaly	7291	TWIST1	OMIM:617746
HP:0000248	Brachycephaly	1954	MEGF8	OMIM:614976
HP:0000248	Brachycephaly	2783	GNB2	OMIM:619503
HP:0000248	Brachycephaly	26057	ANKRD17	OMIM:619504
HP:0000248	Brachycephaly	26834	RNU4-2	OMIM:620851
HP:0000248	Brachycephaly	4247	MGAT2	OMIM:212066
HP:0000248	Brachycephaly	2697	GJA1	OMIM:257850
HP:0000248	Brachycephaly	81794	ADAMTS10	OMIM:277600
HP:0000248	Brachycephaly	55768	NGLY1	OMIM:615273
HP:0000248	Brachycephaly	9895	TECPR2	OMIM:615031
HP:0000248	Brachycephaly	9895	TECPR2	ORPHA:320385
HP:0000248	Brachycephaly	56006	SMG9	OMIM:619995
HP:0000248	Brachycephaly	1182	CLCN3	OMIM:619512
HP:0000248	Brachycephaly	3590	IL11RA	OMIM:614188
HP:0000248	Brachycephaly	51604	PIGT	OMIM:615398
HP:0000248	Brachycephaly	51604	PIGT	ORPHA:369837
HP:0000248	Brachycephaly	8558	CDK10	OMIM:617694
HP:0000248	Brachycephaly	51633	OTUD6B	OMIM:617452
HP:0000248	Brachycephaly	51633	OTUD6B	ORPHA:505237
HP:0000248	Brachycephaly	26053	AUTS2	OMIM:615834
HP:0000248	Brachycephaly	8239	USP9X	ORPHA:480880
HP:0000248	Brachycephaly	8239	USP9X	OMIM:300968
HP:0000248	Brachycephaly	285175	UNC80	OMIM:616801
HP:0000248	Brachycephaly	5590	PRKCZ	ORPHA:1606
HP:0000248	Brachycephaly	2563	GABRD	ORPHA:1606
HP:0000248	Brachycephaly	23013	SPEN	ORPHA:1606
HP:0000248	Brachycephaly	8510	MMP23B	ORPHA:1606
HP:0000248	Brachycephaly	7798	LUZP1	ORPHA:1606
HP:0000248	Brachycephaly	6497	SKI	ORPHA:1606
HP:0000248	Brachycephaly	10630	PDPN	ORPHA:1606
HP:0000248	Brachycephaly	3339	HSPG2	ORPHA:1606
HP:0000248	Brachycephaly	10277	UBE4B	ORPHA:1606
HP:0000248	Brachycephaly	8514	KCNAB2	ORPHA:1606
HP:0000248	Brachycephaly	473	RERE	ORPHA:1606
HP:0000248	Brachycephaly	63976	PRDM16	ORPHA:1606
HP:0000248	Brachycephaly	54897	CASZ1	ORPHA:1606
HP:0000248	Brachycephaly	7337	UBE3A	OMIM:105830
HP:0000248	Brachycephaly	6638	SNRPN	OMIM:105830
HP:0000248	Brachycephaly	54499	TMCO1	OMIM:213980
HP:0000248	Brachycephaly	54499	TMCO1	ORPHA:1394
HP:0000248	Brachycephaly	11128	POLR3A	OMIM:264090
HP:0000248	Brachycephaly	157570	ESCO2	ORPHA:3103
HP:0000248	Brachycephaly	157570	ESCO2	OMIM:268300
HP:0000248	Brachycephaly	2517	FUCA1	ORPHA:349
HP:0000248	Brachycephaly	10236	HNRNPR	OMIM:620073
HP:0000248	Brachycephaly	79796	ALG9	ORPHA:79328
HP:0000248	Brachycephaly	79796	ALG9	OMIM:608776
HP:0000248	Brachycephaly	79796	ALG9	OMIM:263210
HP:0000248	Brachycephaly	79718	TBL1XR1	OMIM:602342
HP:0000248	Brachycephaly	79718	TBL1XR1	ORPHA:487825
HP:0000248	Brachycephaly	2200	FBN1	OMIM:608328
HP:0000248	Brachycephaly	26137	ZBTB20	OMIM:259050
HP:0000248	Brachycephaly	58508	KMT2C	ORPHA:261652
HP:0000248	Brachycephaly	4094	MAF	ORPHA:1272
HP:0000248	Brachycephaly	4094	MAF	OMIM:601088
HP:0000248	Brachycephaly	8314	BAP1	OMIM:619762
HP:0000248	Brachycephaly	253959	RALGAPA1	OMIM:618797
HP:0000248	Brachycephaly	4849	CNOT3	OMIM:618672
HP:0000248	Brachycephaly	6942	TCF20	OMIM:618430
HP:0000248	Brachycephaly	200424	TET3	OMIM:618798
HP:0000248	Brachycephaly	5832	ALDH18A1	OMIM:219150
HP:0000248	Brachycephaly	471	ATIC	OMIM:608688
HP:0000248	Brachycephaly	471	ATIC	ORPHA:250977
HP:0000248	Brachycephaly	57688	ZSWIM6	OMIM:603671
HP:0000248	Brachycephaly	57688	ZSWIM6	ORPHA:1827
HP:0000248	Brachycephaly	51567	TDP2	ORPHA:404493
HP:0000248	Brachycephaly	4488	MSX2	OMIM:604757
HP:0000248	Brachycephaly	5727	PTCH1	ORPHA:377
HP:0000248	Brachycephaly	8643	PTCH2	ORPHA:377
HP:0000248	Brachycephaly	51684	SUFU	ORPHA:377
HP:0000248	Brachycephaly	22930	RAB3GAP1	ORPHA:1387
HP:0000248	Brachycephaly	6611	SMS	OMIM:309583
HP:0000248	Brachycephaly	6611	SMS	ORPHA:3063
HP:0000248	Brachycephaly	25836	NIPBL	OMIM:122470
HP:0000248	Brachycephaly	25836	NIPBL	ORPHA:199
HP:0000248	Brachycephaly	51322	WAC	OMIM:616708
HP:0000248	Brachycephaly	4733	DRG1	OMIM:620641
HP:0000248	Brachycephaly	60681	FKBP10	OMIM:610968
HP:0000248	Brachycephaly	701	BUB1B	OMIM:257300
HP:0000248	Brachycephaly	29123	ANKRD11	OMIM:148050
HP:0000248	Brachycephaly	5881	RAC3	OMIM:618577
HP:0000248	Brachycephaly	60529	ALX4	ORPHA:228390
HP:0000248	Brachycephaly	60529	ALX4	OMIM:613451
HP:0000248	Brachycephaly	60529	ALX4	ORPHA:52022
HP:0000248	Brachycephaly	5587	PRKD1	OMIM:617364
HP:0000248	Brachycephaly	2703	GJA8	OMIM:612474
HP:0000248	Brachycephaly	2702	GJA5	OMIM:612474
HP:0000248	Brachycephaly	123016	TTC8	OMIM:615985
HP:0000248	Brachycephaly	27152	INTU	OMIM:617925
HP:0000248	Brachycephaly	56603	CYP26B1	OMIM:614416
HP:0000248	Brachycephaly	10664	CTCF	OMIM:615502
HP:0000248	Brachycephaly	78987	CRELD1	OMIM:620771
HP:0000248	Brachycephaly	1801	DPH1	ORPHA:459061
HP:0000248	Brachycephaly	1802	DPH2	ORPHA:459061
HP:0000248	Brachycephaly	84181	CHD6	ORPHA:2108
HP:0000248	Brachycephaly	10075	HUWE1	OMIM:309590
HP:0000248	Brachycephaly	6938	TCF12	ORPHA:35099
HP:0000248	Brachycephaly	7545	ZIC1	ORPHA:35099
HP:0000248	Brachycephaly	7545	ZIC1	OMIM:616602
HP:0000248	Brachycephaly	7545	ZIC1	OMIM:618736
HP:0000248	Brachycephaly	55906	ZC4H2	OMIM:301041
HP:0000248	Brachycephaly	6909	TBX2	OMIM:618223
HP:0000248	Brachycephaly	56896	DPYSL5	OMIM:619435
HP:0000248	Brachycephaly	8092	ALX1	OMIM:613456
HP:0000248	Brachycephaly	253738	EBF3	ORPHA:96148
HP:0000248	Brachycephaly	23028	KDM1A	OMIM:616728
HP:0000248	Brachycephaly	90459	ERI1	OMIM:620662
HP:0000248	Brachycephaly	55869	HDAC8	OMIM:300882
HP:0000248	Brachycephaly	55869	HDAC8	ORPHA:199
HP:0000248	Brachycephaly	3313	HSPA9	OMIM:616854
HP:0000248	Brachycephaly	23314	SATB2	ORPHA:251019
HP:0000248	Brachycephaly	79644	SRD5A3	OMIM:612379
HP:0000248	Brachycephaly	51114	ZDHHC9	ORPHA:776
HP:0000248	Brachycephaly	65109	UPF3B	ORPHA:776
HP:0000248	Brachycephaly	9968	MED12	ORPHA:776
HP:0000248	Brachycephaly	9126	SMC3	OMIM:610759
HP:0000248	Brachycephaly	9126	SMC3	ORPHA:199
HP:0000248	Brachycephaly	56975	FAM20C	OMIM:259775
HP:0000248	Brachycephaly	54496	PRMT7	OMIM:617157
HP:0000248	Brachycephaly	10265	IRX5	OMIM:611174
HP:0000248	Brachycephaly	3054	HCFC1	OMIM:309541
HP:0000248	Brachycephaly	3183	HNRNPC	OMIM:620688
HP:0000248	Brachycephaly	2077	ERF	ORPHA:207
HP:0000248	Brachycephaly	29940	DSE	OMIM:615539
HP:0000248	Brachycephaly	51608	GET4	OMIM:620200
HP:0000248	Brachycephaly	23389	MED13L	ORPHA:369891
HP:0000248	Brachycephaly	23389	MED13L	OMIM:616789
HP:0000248	Brachycephaly	7703	PCGF2	OMIM:618371
HP:0000248	Brachycephaly	1301	COL11A1	ORPHA:560
HP:0000248	Brachycephaly	5277	PIGA	OMIM:300868
HP:0000248	Brachycephaly	26040	SETBP1	OMIM:616078
HP:0000248	Brachycephaly	83696	TRAPPC9	ORPHA:352530
HP:0000248	Brachycephaly	92949	ADAMTSL1	ORPHA:521445
HP:0000248	Brachycephaly	128637	TBC1D20	OMIM:615663
HP:0000248	Brachycephaly	175	AGA	OMIM:208400
HP:0000248	Brachycephaly	860	RUNX2	ORPHA:1452
HP:0000248	Brachycephaly	23495	TNFRSF13B	ORPHA:1572
HP:0000248	Brachycephaly	4790	NFKB1	ORPHA:1572
HP:0000248	Brachycephaly	4791	NFKB2	ORPHA:1572
HP:0000248	Brachycephaly	115650	TNFRSF13C	ORPHA:1572
HP:0000248	Brachycephaly	1380	CR2	ORPHA:1572
HP:0000248	Brachycephaly	8742	TNFSF12	ORPHA:1572
HP:0000248	Brachycephaly	930	CD19	ORPHA:1572
HP:0000248	Brachycephaly	29851	ICOS	ORPHA:1572
HP:0000248	Brachycephaly	931	MS4A1	ORPHA:1572
HP:0000248	Brachycephaly	975	CD81	ORPHA:1572
HP:0000248	Brachycephaly	359948	IRF2BP2	ORPHA:1572
HP:0000248	Brachycephaly	6304	SATB1	OMIM:619229
HP:0000248	Brachycephaly	139285	AMER1	ORPHA:2780
HP:0000248	Brachycephaly	158326	FREM1	OMIM:608980
HP:0000248	Brachycephaly	760	CA2	ORPHA:2785
HP:0000248	Brachycephaly	64864	RFX7	OMIM:620330
HP:0000248	Brachycephaly	23476	BRD4	ORPHA:199
HP:0000248	Brachycephaly	6878	TAF6	ORPHA:199
HP:0000248	Brachycephaly	10771	ZMYND11	OMIM:616083
HP:0000248	Brachycephaly	7874	USP7	ORPHA:500055
HP:0000248	Brachycephaly	57498	KIDINS220	OMIM:617296
HP:0000248	Brachycephaly	29957	SLC25A24	ORPHA:2095
HP:0000248	Brachycephaly	29957	SLC25A24	OMIM:612289
HP:0000248	Brachycephaly	57003	CCDC47	OMIM:618268
HP:0000248	Brachycephaly	10526	IPO8	OMIM:619472
HP:0000248	Brachycephaly	348180	CTU2	OMIM:618142
HP:0000248	Brachycephaly	4041	LRP5	ORPHA:178377
HP:0000248	Brachycephaly	22931	RAB18	OMIM:614222
HP:0000248	Brachycephaly	80232	WDR26	OMIM:617616
HP:0000248	Brachycephaly	490	ATP2B1	OMIM:619910
HP:0000248	Brachycephaly	538	ATP7A	OMIM:309400
HP:0000248	Brachycephaly	8405	SPOP	OMIM:618828
HP:0000248	Brachycephaly	5781	PTPN11	ORPHA:500
HP:0000248	Brachycephaly	673	BRAF	ORPHA:500
HP:0000248	Brachycephaly	5894	RAF1	ORPHA:500
HP:0000248	Brachycephaly	10128	LRPPRC	ORPHA:70472
HP:0000248	Brachycephaly	526	ATP6V1B2	ORPHA:79500
HP:0000248	Brachycephaly	57465	TBC1D24	ORPHA:79500
HP:0000248	Brachycephaly	2132	EXT2	ORPHA:52022
HP:0000248	Brachycephaly	51317	PHF21A	ORPHA:52022
HP:0000248	Brachycephaly	84172	POLR1B	ORPHA:861
HP:0000248	Brachycephaly	9533	POLR1C	ORPHA:861
HP:0000248	Brachycephaly	51082	POLR1D	ORPHA:861
HP:0000248	Brachycephaly	6949	TCOF1	ORPHA:861
HP:0000248	Brachycephaly	113189	CHST14	OMIM:601776
HP:0000248	Brachycephaly	203068	TUBB	OMIM:156610
HP:0000248	Brachycephaly	285590	SH3PXD2B	OMIM:249420
HP:0000248	Brachycephaly	51715	RAB23	OMIM:201000
HP:0000248	Brachycephaly	10651	MTX2	OMIM:619127
HP:0000248	Brachycephaly	91875	TTC5	OMIM:619244
HP:0000248	Brachycephaly	202018	TAPT1	OMIM:616897
HP:0000248	Brachycephaly	1654	DDX3X	OMIM:300958
HP:0000248	Brachycephaly	9759	HDAC4	OMIM:600430
HP:0000248	Brachycephaly	51	ACOX1	OMIM:264470
HP:0000248	Brachycephaly	9897	WASHC5	OMIM:220210
HP:0000248	Brachycephaly	5745	PTH1R	OMIM:156400
HP:0000248	Brachycephaly	2629	GBA1	ORPHA:2072
HP:0000248	Brachycephaly	9320	TRIP12	OMIM:617752
HP:0000248	Brachycephaly	51594	NBAS	OMIM:614800
HP:0000248	Brachycephaly	54187	NANS	OMIM:610442
HP:0000248	Brachycephaly	5430	POLR2A	OMIM:618603
HP:0000248	Brachycephaly	9939	RBM8A	OMIM:274000
HP:0000248	Brachycephaly	2801	GOLGA2	OMIM:620240
HP:0000248	Brachycephaly	9469	CHST3	OMIM:245600
HP:0000248	Brachycephaly	26229	B3GAT3	OMIM:245600
HP:0000248	Brachycephaly	4204	MECP2	OMIM:300260
HP:0000248	Brachycephaly	1280	COL2A1	OMIM:200610
HP:0000248	Brachycephaly	7043	TGFB3	OMIM:615582
HP:0000248	Brachycephaly	4858	NOVA2	OMIM:618859
HP:0000248	Brachycephaly	27445	PCLO	OMIM:608027
HP:0000248	Brachycephaly	246329	STAC3	OMIM:255995
HP:0000248	Brachycephaly	9990	SLC12A6	OMIM:218000
HP:0004476	Aplasia cutis congenita over parietal area	57514	ARHGAP31	OMIM:100300
HP:0000239	Large fontanelles	9791	PTDSS1	OMIM:151050
HP:0000239	Large fontanelles	9791	PTDSS1	ORPHA:2658
HP:0000239	Large fontanelles	538	ATP7A	ORPHA:198
HP:0000239	Large fontanelles	3975	LHX1	ORPHA:261265
HP:0000239	Large fontanelles	6928	HNF1B	ORPHA:261265
HP:0000239	Large fontanelles	1182	CLCN3	OMIM:619512
HP:0000239	Large fontanelles	4598	MVK	ORPHA:29
HP:0000239	Large fontanelles	4598	MVK	OMIM:610377
HP:0000239	Large fontanelles	6711	SPTBN1	OMIM:619475
HP:0000239	Large fontanelles	8425	LTBP4	OMIM:613177
HP:0000239	Large fontanelles	5828	PEX2	OMIM:614866
HP:0000239	Large fontanelles	3248	HPGD	OMIM:259100
HP:0000239	Large fontanelles	3248	HPGD	ORPHA:1525
HP:0000239	Large fontanelles	5830	PEX5	OMIM:214110
HP:0000239	Large fontanelles	113189	CHST14	OMIM:601776
HP:0000239	Large fontanelles	113189	CHST14	ORPHA:2953
HP:0000239	Large fontanelles	267010	RNU12	OMIM:603116
HP:0000239	Large fontanelles	3636	INPPL1	OMIM:258480
HP:0000239	Large fontanelles	3636	INPPL1	ORPHA:2746
HP:0000239	Large fontanelles	8443	GNPAT	OMIM:222765
HP:0000239	Large fontanelles	4094	MAF	ORPHA:1272
HP:0000239	Large fontanelles	80816	ASXL3	OMIM:615485
HP:0000239	Large fontanelles	58	ACTA1	ORPHA:171430
HP:0000239	Large fontanelles	4703	NEB	ORPHA:171430
HP:0000239	Large fontanelles	4703	NEB	OMIM:619334
HP:0000239	Large fontanelles	131377	KLHL40	ORPHA:171430
HP:0000239	Large fontanelles	10324	KLHL41	ORPHA:171430
HP:0000239	Large fontanelles	56203	LMOD3	ORPHA:171430
HP:0000239	Large fontanelles	5831	PYCR1	OMIM:614438
HP:0000239	Large fontanelles	5831	PYCR1	OMIM:612940
HP:0000239	Large fontanelles	23729	SHPK	ORPHA:440713
HP:0000239	Large fontanelles	79633	FAT4	ORPHA:314679
HP:0000239	Large fontanelles	8642	DCHS1	ORPHA:314679
HP:0000239	Large fontanelles	5832	ALDH18A1	OMIM:219150
HP:0000239	Large fontanelles	4000	LMNA	ORPHA:90153
HP:0000239	Large fontanelles	10269	ZMPSTE24	ORPHA:90154
HP:0000239	Large fontanelles	10269	ZMPSTE24	OMIM:275210
HP:0000239	Large fontanelles	56975	FAM20C	ORPHA:1832
HP:0000239	Large fontanelles	56975	FAM20C	OMIM:259775
HP:0000239	Large fontanelles	7849	PAX8	ORPHA:95720
HP:0000239	Large fontanelles	7849	PAX8	ORPHA:95713
HP:0000239	Large fontanelles	7849	PAX8	ORPHA:95712
HP:0000239	Large fontanelles	7253	TSHR	ORPHA:95720
HP:0000239	Large fontanelles	7253	TSHR	ORPHA:95713
HP:0000239	Large fontanelles	5172	SLC26A4	ORPHA:95720
HP:0000239	Large fontanelles	5172	SLC26A4	ORPHA:95713
HP:0000239	Large fontanelles	8241	RBM10	ORPHA:2886
HP:0000239	Large fontanelles	8241	RBM10	OMIM:311900
HP:0000239	Large fontanelles	139285	AMER1	OMIM:300373
HP:0000239	Large fontanelles	139285	AMER1	ORPHA:2780
HP:0000239	Large fontanelles	2263	FGFR2	ORPHA:87
HP:0000239	Large fontanelles	2263	FGFR2	OMIM:101200
HP:0000239	Large fontanelles	10484	SEC23A	ORPHA:50814
HP:0000239	Large fontanelles	1028	CDKN1C	OMIM:130650
HP:0000239	Large fontanelles	3481	IGF2	OMIM:130650
HP:0000239	Large fontanelles	3784	KCNQ1	OMIM:130650
HP:0000239	Large fontanelles	10984	KCNQ1OT1	OMIM:130650
HP:0000239	Large fontanelles	9401	RECQL4	ORPHA:1225
HP:0000239	Large fontanelles	9401	RECQL4	OMIM:218600
HP:0000239	Large fontanelles	29940	DSE	ORPHA:2953
HP:0000239	Large fontanelles	7874	USP7	OMIM:616863
HP:0000239	Large fontanelles	7080	NKX2-1	ORPHA:95713
HP:0000239	Large fontanelles	1482	NKX2-5	ORPHA:95713
HP:0000239	Large fontanelles	1482	NKX2-5	ORPHA:95712
HP:0000239	Large fontanelles	2304	FOXE1	ORPHA:95713
HP:0000239	Large fontanelles	5194	PEX13	OMIM:614883
HP:0000239	Large fontanelles	1277	COL1A1	OMIM:166210
HP:0000239	Large fontanelles	1278	COL1A2	OMIM:166210
HP:0000239	Large fontanelles	5195	PEX14	OMIM:614887
HP:0000239	Large fontanelles	3295	HSD17B4	OMIM:261515
HP:0000239	Large fontanelles	57688	ZSWIM6	ORPHA:1827
HP:0000239	Large fontanelles	71	ACTG1	ORPHA:2995
HP:0000239	Large fontanelles	60	ACTB	ORPHA:2995
HP:0000239	Large fontanelles	3239	HOXD13	ORPHA:887
HP:0000239	Large fontanelles	9896	FIG4	OMIM:216340
HP:0000239	Large fontanelles	857	CAV1	OMIM:606721
HP:0000239	Large fontanelles	27031	NPHP3	OMIM:267010
HP:0000239	Large fontanelles	860	RUNX2	OMIM:119600
HP:0000239	Large fontanelles	860	RUNX2	ORPHA:1452
HP:0000239	Large fontanelles	5277	PIGA	OMIM:300868
HP:0000239	Large fontanelles	4281	MID1	ORPHA:2745
HP:0000239	Large fontanelles	51025	PAM16	OMIM:613320
HP:0000239	Large fontanelles	79053	ALG8	OMIM:608104
HP:0000239	Large fontanelles	56052	ALG1	OMIM:608540
HP:0000239	Large fontanelles	2697	GJA1	OMIM:257850
HP:0000239	Large fontanelles	2316	FLNA	ORPHA:90652
HP:0000239	Large fontanelles	168667	BMPER	OMIM:608022
HP:0000239	Large fontanelles	10682	EBP	ORPHA:401973
HP:0000239	Large fontanelles	4921	DDR2	OMIM:271665
HP:0000239	Large fontanelles	5648	MASP1	OMIM:257920
HP:0000239	Large fontanelles	9526	MPDU1	OMIM:609180
HP:0000239	Large fontanelles	9526	MPDU1	ORPHA:79323
HP:0000239	Large fontanelles	5447	POR	ORPHA:95699
HP:0000239	Large fontanelles	5447	POR	OMIM:207410
HP:0000239	Large fontanelles	2737	GLI3	ORPHA:36
HP:0000239	Large fontanelles	374654	KIF7	ORPHA:36
HP:0000239	Large fontanelles	374654	KIF7	OMIM:200990
HP:0000239	Large fontanelles	4920	ROR2	OMIM:113000
HP:0000239	Large fontanelles	4920	ROR2	OMIM:268310
HP:0000239	Large fontanelles	169792	GLIS3	OMIM:610199
HP:0000239	Large fontanelles	6662	SOX9	OMIM:114290
HP:0000239	Large fontanelles	5189	PEX1	OMIM:214100
HP:0000239	Large fontanelles	5189	PEX1	ORPHA:44
HP:0000239	Large fontanelles	5189	PEX1	ORPHA:912
HP:0000239	Large fontanelles	29957	SLC25A24	ORPHA:2963
HP:0000239	Large fontanelles	29957	SLC25A24	OMIM:612289
HP:0000239	Large fontanelles	64175	P3H1	OMIM:610915
HP:0000239	Large fontanelles	170302	ARX	OMIM:300215
HP:0000239	Large fontanelles	25915	NDUFAF3	OMIM:618240
HP:0000239	Large fontanelles	8260	NAA10	OMIM:300855
HP:0000239	Large fontanelles	2261	FGFR3	ORPHA:1860
HP:0000239	Large fontanelles	2261	FGFR3	ORPHA:15
HP:0000239	Large fontanelles	2261	FGFR3	OMIM:616482
HP:0000239	Large fontanelles	1147	CHUK	OMIM:619339
HP:0000239	Large fontanelles	1009	CDH11	OMIM:619736
HP:0000239	Large fontanelles	7490	WT1	OMIM:194080
HP:0000239	Large fontanelles	9377	COX5A	OMIM:619064
HP:0000239	Large fontanelles	7703	PCGF2	OMIM:618371
HP:0000239	Large fontanelles	9509	ADAMTS2	OMIM:225410
HP:0000239	Large fontanelles	1301	COL11A1	OMIM:228520
HP:0000239	Large fontanelles	1301	COL11A1	ORPHA:2021
HP:0000239	Large fontanelles	84342	COG8	OMIM:611182
HP:0000239	Large fontanelles	79796	ALG9	OMIM:263210
HP:0000239	Large fontanelles	79796	ALG9	ORPHA:79328
HP:0000239	Large fontanelles	23545	ATP6V0A2	OMIM:278250
HP:0000239	Large fontanelles	23545	ATP6V0A2	OMIM:219200
HP:0000239	Large fontanelles	2475	MTOR	OMIM:616638
HP:0000239	Large fontanelles	4036	LRP2	ORPHA:2143
HP:0000239	Large fontanelles	4036	LRP2	OMIM:222448
HP:0000239	Large fontanelles	1302	COL11A2	ORPHA:2021
HP:0000239	Large fontanelles	5193	PEX12	OMIM:614859
HP:0000239	Large fontanelles	5193	PEX12	ORPHA:44
HP:0000239	Large fontanelles	5193	PEX12	ORPHA:912
HP:0000239	Large fontanelles	3265	HRAS	OMIM:218040
HP:0000239	Large fontanelles	26040	SETBP1	ORPHA:798
HP:0000239	Large fontanelles	3981	LIG4	ORPHA:235
HP:0000239	Large fontanelles	54888	NSUN2	ORPHA:235
HP:0000239	Large fontanelles	145173	B3GLCT	OMIM:261540
HP:0000239	Large fontanelles	56006	SMG9	OMIM:616920
HP:0000239	Large fontanelles	2033	EP300	OMIM:180849
HP:0000239	Large fontanelles	1387	CREBBP	OMIM:180849
HP:0000239	Large fontanelles	9681	DEPDC5	OMIM:620504
HP:0000239	Large fontanelles	9091	PIGQ	OMIM:618548
HP:0000239	Large fontanelles	2736	GLI2	OMIM:610829
HP:0000239	Large fontanelles	25839	COG4	OMIM:618150
HP:0000239	Large fontanelles	23405	DICER1	OMIM:618272
HP:0000239	Large fontanelles	285590	SH3PXD2B	OMIM:249420
HP:0000239	Large fontanelles	8318	CDC45	OMIM:617063
HP:0000239	Large fontanelles	28952	CCDC22	OMIM:300963
HP:0000239	Large fontanelles	1654	DDX3X	ORPHA:3338
HP:0000239	Large fontanelles	55670	PEX26	OMIM:614872
HP:0000239	Large fontanelles	55670	PEX26	ORPHA:44
HP:0000239	Large fontanelles	55670	PEX26	ORPHA:912
HP:0000239	Large fontanelles	7291	TWIST1	OMIM:617746
HP:0000239	Large fontanelles	9968	MED12	OMIM:305450
HP:0000239	Large fontanelles	388015	RTL1	ORPHA:96334
HP:0000239	Large fontanelles	8788	DLK1	ORPHA:96334
HP:0000239	Large fontanelles	55384	MEG3	ORPHA:96334
HP:0000239	Large fontanelles	63895	PIEZO2	OMIM:248700
HP:0000239	Large fontanelles	6497	SKI	OMIM:182212
HP:0000239	Large fontanelles	5824	PEX19	ORPHA:44
HP:0000239	Large fontanelles	5824	PEX19	OMIM:614886
HP:0000239	Large fontanelles	5824	PEX19	ORPHA:912
HP:0000239	Large fontanelles	8504	PEX3	ORPHA:44
HP:0000239	Large fontanelles	8504	PEX3	ORPHA:912
HP:0000239	Large fontanelles	9409	PEX16	ORPHA:44
HP:0000239	Large fontanelles	9409	PEX16	ORPHA:912
HP:0000239	Large fontanelles	5190	PEX6	ORPHA:44
HP:0000239	Large fontanelles	5190	PEX6	ORPHA:912
HP:0000239	Large fontanelles	8799	PEX11B	ORPHA:44
HP:0000239	Large fontanelles	8799	PEX11B	ORPHA:912
HP:0000239	Large fontanelles	5192	PEX10	ORPHA:44
HP:0000239	Large fontanelles	5192	PEX10	ORPHA:912
HP:0000239	Large fontanelles	57020	VPS35L	OMIM:619135
HP:0000239	Large fontanelles	5528	PPP2R5D	ORPHA:457279
HP:0000239	Large fontanelles	10661	KLF1	OMIM:613673
HP:0000239	Large fontanelles	84168	ANTXR1	OMIM:230740
HP:0000239	Large fontanelles	10491	CRTAP	OMIM:610682
HP:0000239	Large fontanelles	5479	PPIB	OMIM:259440
HP:0000239	Large fontanelles	7474	WNT5A	OMIM:180700
HP:0000239	Large fontanelles	1855	DVL1	OMIM:180700
HP:0000239	Large fontanelles	56160	NSMCE3	OMIM:617241
HP:0000239	Large fontanelles	9742	IFT140	OMIM:266920
HP:0000239	Large fontanelles	7543	ZFX	OMIM:301118
HP:0000239	Large fontanelles	10736	SIX2	ORPHA:488437
HP:0000239	Large fontanelles	25871	NEPRO	OMIM:618853
HP:0000239	Large fontanelles	27152	INTU	OMIM:617925
HP:0000239	Large fontanelles	7252	TSHB	OMIM:275100
HP:0000239	Large fontanelles	6888	TALDO1	OMIM:606003
HP:0000239	Large fontanelles	2110	ETFDH	OMIM:231680
HP:0000239	Large fontanelles	2108	ETFA	OMIM:231680
HP:0000239	Large fontanelles	2109	ETFB	OMIM:231680
HP:0000239	Large fontanelles	865	CBFB	OMIM:620099
HP:0000239	Large fontanelles	5626	PROP1	ORPHA:226307
HP:0000239	Large fontanelles	89884	LHX4	ORPHA:226307
HP:0000239	Large fontanelles	8022	LHX3	ORPHA:226307
HP:0000239	Large fontanelles	5449	POU1F1	ORPHA:226307
HP:0000239	Large fontanelles	8820	HESX1	ORPHA:226307
HP:0000239	Large fontanelles	405753	DUOXA2	ORPHA:95716
HP:0000239	Large fontanelles	6528	SLC5A5	ORPHA:95716
HP:0000239	Large fontanelles	7038	TG	ORPHA:95716
HP:0000239	Large fontanelles	7173	TPO	ORPHA:95716
HP:0000239	Large fontanelles	389434	IYD	ORPHA:95716
HP:0000239	Large fontanelles	50506	DUOX2	ORPHA:95716
HP:0000239	Large fontanelles	2879	GPX4	OMIM:250220
HP:0000239	Large fontanelles	1636	ACE	OMIM:267430
HP:0000239	Large fontanelles	183	AGT	OMIM:267430
HP:0000239	Large fontanelles	185	AGTR1	OMIM:267430
HP:0000239	Large fontanelles	5972	REN	OMIM:267430
HP:0000239	Large fontanelles	249	ALPL	OMIM:241500
HP:0000239	Large fontanelles	1594	CYP27B1	OMIM:264700
HP:0000239	Large fontanelles	142680	SLC34A3	OMIM:241530
HP:0000239	Large fontanelles	7421	VDR	OMIM:277440
HP:0000239	Large fontanelles	4488	MSX2	OMIM:168550
HP:0000239	Large fontanelles	120227	CYP2R1	OMIM:600081
HP:0000239	Large fontanelles	11128	POLR3A	OMIM:264090
HP:0000239	Large fontanelles	11128	POLR3A	ORPHA:3455
HP:0004472	Mandibular hyperostosis	207	AKT1	OMIM:176920
HP:0004471	Aplasia cutis congenita over the scalp vertex	9790	BMS1	ORPHA:1114
HP:0004471	Aplasia cutis congenita over the scalp vertex	9790	BMS1	OMIM:107600
HP:0004471	Aplasia cutis congenita over the scalp vertex	5339	PLEC	ORPHA:1114
HP:0004471	Aplasia cutis congenita over the scalp vertex	10054	UBA2	ORPHA:1114
HP:0004471	Aplasia cutis congenita over the scalp vertex	3691	ITGB4	ORPHA:1114
HP:0004471	Aplasia cutis congenita over the scalp vertex	54567	DLL4	ORPHA:1114
HP:0004471	Aplasia cutis congenita over the scalp vertex	55784	MCTP2	ORPHA:1596
HP:0004471	Aplasia cutis congenita over the scalp vertex	999	CDH1	OMIM:119580
HP:0004469	Chronic bronchitis	1789	DNMT3B	OMIM:242860
HP:0004469	Chronic bronchitis	7840	ALMS1	ORPHA:64
HP:0004469	Chronic bronchitis	6340	SCNN1G	OMIM:613071
HP:0004469	Chronic bronchitis	5265	SERPINA1	OMIM:613490
HP:0004469	Chronic bronchitis	55130	ODAD2	OMIM:615451
HP:0004469	Chronic bronchitis	2990	GUSB	OMIM:253220
HP:0004469	Chronic bronchitis	9841	ZBTB24	OMIM:614069
HP:0004469	Chronic bronchitis	1080	CFTR	OMIM:211400
HP:0004469	Chronic bronchitis	6338	SCNN1B	OMIM:211400
HP:0004469	Chronic bronchitis	5880	RAC2	OMIM:618986
HP:0004469	Chronic bronchitis	26146	TRAF3IP1	OMIM:616629
HP:0004469	Chronic bronchitis	345895	RSPH4A	OMIM:612649
HP:0004469	Chronic bronchitis	54768	HYDIN	OMIM:608647
HP:0004469	Chronic bronchitis	161582	DNAAF4	OMIM:615482
HP:0004469	Chronic bronchitis	146206	CARMIL2	OMIM:618131
HP:0004469	Chronic bronchitis	6337	SCNN1A	OMIM:613021
HP:0004469	Chronic bronchitis	56683	CFAP298	OMIM:615500
HP:0004469	Chronic bronchitis	5424	POLD1	OMIM:620836
HP:0004469	Chronic bronchitis	54919	DNAAF5	OMIM:614874
HP:0004469	Chronic bronchitis	51364	ZMYND10	OMIM:615444
HP:0004469	Chronic bronchitis	115948	ODAD3	OMIM:616037
HP:0004469	Chronic bronchitis	6891	TAP2	OMIM:620813
HP:0004469	Chronic bronchitis	85478	CCDC65	OMIM:615504
HP:0004469	Chronic bronchitis	6674	SPAG1	OMIM:615505
HP:0004469	Chronic bronchitis	56171	DNAH7	OMIM:620356
HP:0004469	Chronic bronchitis	23639	DNAAF11	OMIM:614935
HP:0004469	Chronic bronchitis	9898	UBAP2L	OMIM:620494
HP:0004469	Chronic bronchitis	55036	CCDC40	OMIM:613808
HP:0004469	Chronic bronchitis	339829	CCDC39	OMIM:613807
HP:0007690	Map-dot-fingerprint corneal dystrophy	7045	TGFBI	OMIM:121820
HP:0000608	Macular degeneration	26121	PRPF31	OMIM:600138
HP:0000608	Macular degeneration	735	C9	OMIM:615591
HP:0000608	Macular degeneration	83394	PITPNM3	OMIM:600977
HP:0000608	Macular degeneration	24	ABCA4	OMIM:248200
HP:0000608	Macular degeneration	24	ABCA4	ORPHA:827
HP:0000608	Macular degeneration	24	ABCA4	OMIM:153800
HP:0000608	Macular degeneration	6103	RPGR	OMIM:300834
HP:0000608	Macular degeneration	84839	RAX2	OMIM:610381
HP:0000608	Macular degeneration	84839	RAX2	OMIM:613757
HP:0000608	Macular degeneration	94137	RP1L1	OMIM:618826
HP:0000608	Macular degeneration	3426	CFI	OMIM:615439
HP:0000608	Macular degeneration	8842	PROM1	ORPHA:827
HP:0000608	Macular degeneration	8842	PROM1	OMIM:612095
HP:0000608	Macular degeneration	8842	PROM1	OMIM:603786
HP:0000608	Macular degeneration	5961	PRPH2	ORPHA:827
HP:0000608	Macular degeneration	6785	ELOVL4	ORPHA:827
HP:0000608	Macular degeneration	54714	CNGB3	ORPHA:827
HP:0000608	Macular degeneration	5654	HTRA1	OMIM:610149
HP:0000608	Macular degeneration	1471	CST3	OMIM:611953
HP:0000608	Macular degeneration	23078	VWA8	OMIM:620422
HP:0000608	Macular degeneration	130557	ZNF513	OMIM:613617
HP:0000608	Macular degeneration	9094	UNC119	OMIM:620342
HP:0000608	Macular degeneration	10516	FBLN5	OMIM:608895
HP:0000608	Macular degeneration	10516	FBLN5	OMIM:619764
HP:0000608	Macular degeneration	23503	ZFYVE26	OMIM:270700
HP:0000608	Macular degeneration	49855	SCAPER	OMIM:618195
HP:0000608	Macular degeneration	6011	GRK1	ORPHA:75382
HP:0000608	Macular degeneration	6295	SAG	ORPHA:75382
HP:0000608	Macular degeneration	114902	C1QTNF5	ORPHA:67042
HP:0000608	Macular degeneration	368	ABCC6	OMIM:177850
HP:0000608	Macular degeneration	368	ABCC6	OMIM:264800
HP:0000608	Macular degeneration	6017	RLBP1	ORPHA:85128
HP:0000608	Macular degeneration	6017	RLBP1	OMIM:607475
HP:0000608	Macular degeneration	64131	XYLT1	OMIM:264800
HP:0000608	Macular degeneration	64132	XYLT2	OMIM:264800
HP:0000608	Macular degeneration	123016	TTC8	OMIM:613464
HP:0000608	Macular degeneration	1356	CP	ORPHA:48818
HP:0000608	Macular degeneration	9128	PRPF4	OMIM:615922
HP:0000608	Macular degeneration	224	ALDH3A2	ORPHA:816
HP:0000608	Macular degeneration	224	ALDH3A2	OMIM:270200
HP:0000608	Macular degeneration	768206	PRCD	OMIM:610599
HP:0000608	Macular degeneration	2979	GUCA1B	OMIM:613827
HP:0000608	Macular degeneration	6314	ATXN7	OMIM:164500
HP:0000608	Macular degeneration	6314	ATXN7	ORPHA:94147
HP:0000608	Macular degeneration	80208	SPG11	OMIM:604360
HP:0000608	Macular degeneration	348	APOE	OMIM:603075
HP:0000608	Macular degeneration	10878	CFHR3	OMIM:603075
HP:0000608	Macular degeneration	83872	HMCN1	OMIM:603075
HP:0000608	Macular degeneration	3078	CFHR1	OMIM:603075
HP:0000608	Macular degeneration	2192	FBLN1	ORPHA:404451
HP:0000608	Macular degeneration	427	ASAH1	ORPHA:333
HP:0000608	Macular degeneration	55129	ANO10	ORPHA:284289
HP:0000608	Macular degeneration	64218	SEMA4A	OMIM:610283
HP:0000608	Macular degeneration	5538	PPT1	OMIM:256730
HP:0000608	Macular degeneration	57096	RPGRIP1	OMIM:608194
HP:0000608	Macular degeneration	84131	CEP78	OMIM:617236
HP:0000608	Macular degeneration	404672	GTF2H5	ORPHA:33364
HP:0000608	Macular degeneration	833	CARS1	ORPHA:33364
HP:0000608	Macular degeneration	2068	ERCC2	ORPHA:33364
HP:0000608	Macular degeneration	7737	RNF113A	ORPHA:33364
HP:0000608	Macular degeneration	136647	MPLKIP	ORPHA:33364
HP:0000608	Macular degeneration	6897	TARS1	ORPHA:33364
HP:0000608	Macular degeneration	16	AARS1	ORPHA:33364
HP:0000608	Macular degeneration	2071	ERCC3	ORPHA:33364
HP:0000608	Macular degeneration	2961	GTF2E2	ORPHA:33364
HP:0000608	Macular degeneration	26146	TRAF3IP1	OMIM:616629
HP:0000608	Macular degeneration	5076	PAX2	OMIM:120330
HP:0000608	Macular degeneration	1001	CDH3	OMIM:601553
HP:0000608	Macular degeneration	1001	CDH3	ORPHA:1573
HP:0000608	Macular degeneration	9742	IFT140	OMIM:266920
HP:0000608	Macular degeneration	3980	LIG3	OMIM:619780
HP:0000608	Macular degeneration	1201	CLN3	OMIM:204200
HP:0000608	Macular degeneration	80781	COL18A1	ORPHA:1571
HP:0000608	Macular degeneration	5062	PAK2	ORPHA:1571
HP:0000608	Macular degeneration	1258	CNGB1	OMIM:613767
HP:0000608	Macular degeneration	3075	CFH	OMIM:610698
HP:0000608	Macular degeneration	2201	FBN2	OMIM:616118
HP:0000608	Macular degeneration	2202	EFEMP1	ORPHA:75376
HP:0000608	Macular degeneration	9785	DHX38	OMIM:618220
HP:0000608	Macular degeneration	23568	ARL2BP	OMIM:615434
HP:0000608	Macular degeneration	157657	CFAP418	OMIM:614500
HP:0000608	Macular degeneration	54585	LZTFL1	OMIM:615994
HP:0000608	Macular degeneration	6247	RS1	OMIM:312700
HP:0000608	Macular degeneration	10733	PLK4	OMIM:616171
HP:0000608	Macular degeneration	3000	GUCY2D	OMIM:601777
HP:0000608	Macular degeneration	3000	GUCY2D	ORPHA:75377
HP:0000608	Macular degeneration	6010	RHO	ORPHA:52427
HP:0000608	Macular degeneration	5959	RDH5	ORPHA:52427
HP:0000608	Macular degeneration	2629	GBA1	OMIM:230800
HP:0000608	Macular degeneration	3098	HK1	OMIM:617460
HP:0000608	Macular degeneration	5130	PCYT1A	ORPHA:85167
HP:0000608	Macular degeneration	5130	PCYT1A	OMIM:608940
HP:0000608	Macular degeneration	10461	MERTK	OMIM:613862
HP:0000608	Macular degeneration	169522	KCNV2	OMIM:610356
HP:0000608	Macular degeneration	2978	GUCA1A	ORPHA:75377
HP:0000608	Macular degeneration	2978	GUCA1A	OMIM:602093
HP:0000608	Macular degeneration	57724	EPG5	OMIM:242840
HP:0000608	Macular degeneration	7867	MAPKAPK3	OMIM:617111
HP:0000608	Macular degeneration	128338	DRAM2	OMIM:616502
HP:0000608	Macular degeneration	4901	NRL	OMIM:613750
HP:0000608	Macular degeneration	8565	YARS1	OMIM:619418
HP:0000608	Macular degeneration	57728	WDR19	OMIM:616307
HP:0000608	Macular degeneration	9187	SLC24A1	OMIM:613830
HP:0000608	Macular degeneration	26504	CNNM4	OMIM:217080
HP:0000608	Macular degeneration	6533	SLC6A6	OMIM:145350
HP:0000608	Macular degeneration	344658	SAMD7	OMIM:620762
HP:0000608	Macular degeneration	6100	RP9	OMIM:180104
HP:0000608	Macular degeneration	64802	NMNAT1	OMIM:608553
HP:0000608	Macular degeneration	64802	NMNAT1	OMIM:619260
HP:0000608	Macular degeneration	4990	SIX6	OMIM:212550
HP:0000608	Macular degeneration	23746	AIPL1	OMIM:604393
HP:0000608	Macular degeneration	129880	BBS5	OMIM:615983
HP:0000608	Macular degeneration	22926	ATF6	OMIM:616517
HP:0000608	Macular degeneration	10002	NR2E3	OMIM:611131
HP:0000608	Macular degeneration	7439	BEST1	ORPHA:1243
HP:0000608	Macular degeneration	7439	BEST1	OMIM:153700
HP:0000608	Macular degeneration	4982	TNFRSF11B	OMIM:239000
HP:0000608	Macular degeneration	3105	HLA-A	ORPHA:179
HP:0000608	Macular degeneration	6452	SH3BP2	OMIM:118400
HP:0007695	Abnormal pupillary light reflex	79628	SH3TC2	OMIM:601596
HP:0007695	Abnormal pupillary light reflex	79628	SH3TC2	ORPHA:99949
HP:0007695	Abnormal pupillary light reflex	22926	ATF6	ORPHA:49382
HP:0007695	Abnormal pupillary light reflex	5146	PDE6C	ORPHA:49382
HP:0007695	Abnormal pupillary light reflex	6103	RPGR	ORPHA:49382
HP:0007695	Abnormal pupillary light reflex	5149	PDE6H	ORPHA:49382
HP:0007695	Abnormal pupillary light reflex	2780	GNAT2	ORPHA:49382
HP:0007695	Abnormal pupillary light reflex	1261	CNGA3	ORPHA:49382
HP:0007695	Abnormal pupillary light reflex	54714	CNGB3	ORPHA:49382
HP:0007695	Abnormal pupillary light reflex	9227	LRAT	ORPHA:364055
HP:0007695	Abnormal pupillary light reflex	55812	SPATA7	ORPHA:364055
HP:0007695	Abnormal pupillary light reflex	6121	RPE65	ORPHA:364055
HP:0007695	Abnormal pupillary light reflex	167691	LCA5	ORPHA:364055
HP:0007695	Abnormal pupillary light reflex	80781	COL18A1	OMIM:267750
HP:0007695	Abnormal pupillary light reflex	4359	MPZ	OMIM:607736
HP:0007695	Abnormal pupillary light reflex	5631	PRPS1	ORPHA:423479
HP:0007695	Abnormal pupillary light reflex	3769	KCNJ13	ORPHA:65
HP:0007695	Abnormal pupillary light reflex	343035	RD3	ORPHA:65
HP:0007695	Abnormal pupillary light reflex	145226	RDH12	ORPHA:65
HP:0007695	Abnormal pupillary light reflex	1406	CRX	ORPHA:65
HP:0007695	Abnormal pupillary light reflex	64802	NMNAT1	ORPHA:65
HP:0007695	Abnormal pupillary light reflex	57096	RPGRIP1	ORPHA:65
HP:0007695	Abnormal pupillary light reflex	57096	RPGRIP1	OMIM:613826
HP:0007695	Abnormal pupillary light reflex	80184	CEP290	ORPHA:65
HP:0007695	Abnormal pupillary light reflex	10383	TUBB4B	ORPHA:65
HP:0007695	Abnormal pupillary light reflex	9742	IFT140	ORPHA:65
HP:0007695	Abnormal pupillary light reflex	85015	USP45	ORPHA:65
HP:0007695	Abnormal pupillary light reflex	23418	CRB1	ORPHA:65
HP:0007695	Abnormal pupillary light reflex	5130	PCYT1A	ORPHA:65
HP:0007695	Abnormal pupillary light reflex	9657	IQCB1	ORPHA:65
HP:0007695	Abnormal pupillary light reflex	392255	GDF6	ORPHA:65
HP:0007695	Abnormal pupillary light reflex	23746	AIPL1	ORPHA:65
HP:0007695	Abnormal pupillary light reflex	3000	GUCY2D	ORPHA:65
HP:0007695	Abnormal pupillary light reflex	7287	TULP1	ORPHA:65
HP:0007695	Abnormal pupillary light reflex	7287	TULP1	OMIM:613843
HP:0007695	Abnormal pupillary light reflex	3614	IMPDH1	ORPHA:65
HP:0007695	Abnormal pupillary light reflex	1136	CHRNA3	OMIM:191800
HP:0007695	Abnormal pupillary light reflex	9255	AIMP1	OMIM:260600
HP:0007695	Abnormal pupillary light reflex	55605	KIF21A	ORPHA:45358
HP:0007695	Abnormal pupillary light reflex	347733	TUBB2B	ORPHA:45358
HP:0007695	Abnormal pupillary light reflex	7846	TUBA1A	ORPHA:45358
HP:0007695	Abnormal pupillary light reflex	401	PHOX2A	ORPHA:45358
HP:0007695	Abnormal pupillary light reflex	10381	TUBB3	ORPHA:45358
HP:0007695	Abnormal pupillary light reflex	84570	COL25A1	ORPHA:45358
HP:0007695	Abnormal pupillary light reflex	5376	PMP22	ORPHA:90658
HP:0007695	Abnormal pupillary light reflex	8292	COLQ	ORPHA:98915
HP:0007695	Abnormal pupillary light reflex	3913	LAMB2	ORPHA:98915
HP:0007695	Abnormal pupillary light reflex	2581	GALC	ORPHA:206436
HP:0007695	Abnormal pupillary light reflex	5660	PSAP	ORPHA:206436
HP:0007695	Abnormal pupillary light reflex	1131	CHRM3	OMIM:100100
HP:0001274	Agenesis of corpus callosum	3476	IGBP1	OMIM:300472
HP:0001274	Agenesis of corpus callosum	3476	IGBP1	ORPHA:52055
HP:0001274	Agenesis of corpus callosum	11113	CIT	OMIM:617090
HP:0001274	Agenesis of corpus callosum	11113	CIT	ORPHA:2512
HP:0001274	Agenesis of corpus callosum	1718	DHCR24	OMIM:602398
HP:0001274	Agenesis of corpus callosum	1718	DHCR24	ORPHA:35107
HP:0001274	Agenesis of corpus callosum	7528	YY1	ORPHA:506358
HP:0001274	Agenesis of corpus callosum	23141	ANKLE2	OMIM:616681
HP:0001274	Agenesis of corpus callosum	23141	ANKLE2	ORPHA:2512
HP:0001274	Agenesis of corpus callosum	23019	CNOT1	OMIM:618500
HP:0001274	Agenesis of corpus callosum	23019	CNOT1	ORPHA:556955
HP:0001274	Agenesis of corpus callosum	1024	CDK8	OMIM:618748
HP:0001274	Agenesis of corpus callosum	23556	PIGN	ORPHA:2059
HP:0001274	Agenesis of corpus callosum	81857	MED25	OMIM:616449
HP:0001274	Agenesis of corpus callosum	81857	MED25	ORPHA:464738
HP:0001274	Agenesis of corpus callosum	5361	PLXNA1	OMIM:619955
HP:0001274	Agenesis of corpus callosum	4774	NFIA	OMIM:613735
HP:0001274	Agenesis of corpus callosum	10992	SF3B2	OMIM:164210
HP:0001274	Agenesis of corpus callosum	9839	ZEB2	OMIM:235730
HP:0001274	Agenesis of corpus callosum	9839	ZEB2	ORPHA:261552
HP:0001274	Agenesis of corpus callosum	9839	ZEB2	ORPHA:261537
HP:0001274	Agenesis of corpus callosum	2731	GLDC	OMIM:605899
HP:0001274	Agenesis of corpus callosum	3190	HNRNPK	ORPHA:453504
HP:0001274	Agenesis of corpus callosum	3190	HNRNPK	ORPHA:352665
HP:0001274	Agenesis of corpus callosum	55112	DYNC2I1	ORPHA:93271
HP:0001274	Agenesis of corpus callosum	57560	IFT80	ORPHA:93271
HP:0001274	Agenesis of corpus callosum	57539	WDR35	ORPHA:93271
HP:0001274	Agenesis of corpus callosum	79659	DYNC2H1	ORPHA:93271
HP:0001274	Agenesis of corpus callosum	79659	DYNC2H1	OMIM:613091
HP:0001274	Agenesis of corpus callosum	89891	DYNC2I2	ORPHA:93271
HP:0001274	Agenesis of corpus callosum	4281	MID1	OMIM:300000
HP:0001274	Agenesis of corpus callosum	4281	MID1	ORPHA:2745
HP:0001274	Agenesis of corpus callosum	51112	TRAPPC12	ORPHA:500144
HP:0001274	Agenesis of corpus callosum	51112	TRAPPC12	OMIM:617669
HP:0001274	Agenesis of corpus callosum	2073	ERCC5	OMIM:616570
HP:0001274	Agenesis of corpus callosum	116931	MED12L	OMIM:618872
HP:0001274	Agenesis of corpus callosum	374654	KIF7	OMIM:200990
HP:0001274	Agenesis of corpus callosum	374654	KIF7	OMIM:607131
HP:0001274	Agenesis of corpus callosum	374654	KIF7	OMIM:614120
HP:0001274	Agenesis of corpus callosum	374654	KIF7	ORPHA:2189
HP:0001274	Agenesis of corpus callosum	374654	KIF7	ORPHA:166024
HP:0001274	Agenesis of corpus callosum	9578	CDC42BPB	OMIM:619841
HP:0001274	Agenesis of corpus callosum	3020	H3-3A	OMIM:619720
HP:0001274	Agenesis of corpus callosum	170302	ARX	OMIM:300004
HP:0001274	Agenesis of corpus callosum	170302	ARX	OMIM:300215
HP:0001274	Agenesis of corpus callosum	170302	ARX	ORPHA:452
HP:0001274	Agenesis of corpus callosum	170302	ARX	ORPHA:2508
HP:0001274	Agenesis of corpus callosum	2737	GLI3	ORPHA:380
HP:0001274	Agenesis of corpus callosum	2737	GLI3	OMIM:175700
HP:0001274	Agenesis of corpus callosum	1630	DCC	OMIM:617542
HP:0001274	Agenesis of corpus callosum	1630	DCC	ORPHA:238722
HP:0001274	Agenesis of corpus callosum	1630	DCC	OMIM:157600
HP:0001274	Agenesis of corpus callosum	6576	SLC25A1	OMIM:618197
HP:0001274	Agenesis of corpus callosum	23322	RPGRIP1L	ORPHA:220497
HP:0001274	Agenesis of corpus callosum	4867	NPHP1	ORPHA:220497
HP:0001274	Agenesis of corpus callosum	65062	TMEM237	ORPHA:220497
HP:0001274	Agenesis of corpus callosum	22858	CILK1	OMIM:612651
HP:0001274	Agenesis of corpus callosum	25914	RTTN	OMIM:614833
HP:0001274	Agenesis of corpus callosum	25914	RTTN	ORPHA:468631
HP:0001274	Agenesis of corpus callosum	54806	AHI1	ORPHA:220493
HP:0001274	Agenesis of corpus callosum	56623	INPP5E	ORPHA:220493
HP:0001274	Agenesis of corpus callosum	153241	CEP120	ORPHA:220493
HP:0001274	Agenesis of corpus callosum	54903	MKS1	ORPHA:220493
HP:0001274	Agenesis of corpus callosum	54903	MKS1	OMIM:249000
HP:0001274	Agenesis of corpus callosum	95681	CEP41	ORPHA:220493
HP:0001274	Agenesis of corpus callosum	80055	PGAP1	OMIM:615802
HP:0001274	Agenesis of corpus callosum	80055	PGAP1	ORPHA:401820
HP:0001274	Agenesis of corpus callosum	84197	POMK	OMIM:615249
HP:0001274	Agenesis of corpus callosum	84197	POMK	ORPHA:899
HP:0001274	Agenesis of corpus callosum	84197	POMK	ORPHA:370959
HP:0001274	Agenesis of corpus callosum	10381	TUBB3	OMIM:614039
HP:0001274	Agenesis of corpus callosum	10381	TUBB3	OMIM:600638
HP:0001274	Agenesis of corpus callosum	26153	KIF26A	OMIM:620156
HP:0001274	Agenesis of corpus callosum	2260	FGFR1	ORPHA:280200
HP:0001274	Agenesis of corpus callosum	2260	FGFR1	ORPHA:2396
HP:0001274	Agenesis of corpus callosum	2260	FGFR1	ORPHA:93924
HP:0001274	Agenesis of corpus callosum	2260	FGFR1	OMIM:147950
HP:0001274	Agenesis of corpus callosum	2260	FGFR1	OMIM:613001
HP:0001274	Agenesis of corpus callosum	2260	FGFR1	ORPHA:220386
HP:0001274	Agenesis of corpus callosum	2260	FGFR1	OMIM:615465
HP:0001274	Agenesis of corpus callosum	2260	FGFR1	ORPHA:3157
HP:0001274	Agenesis of corpus callosum	28514	DLL1	ORPHA:280200
HP:0001274	Agenesis of corpus callosum	28514	DLL1	ORPHA:93926
HP:0001274	Agenesis of corpus callosum	28514	DLL1	ORPHA:93924
HP:0001274	Agenesis of corpus callosum	28514	DLL1	ORPHA:93925
HP:0001274	Agenesis of corpus callosum	28514	DLL1	ORPHA:220386
HP:0001274	Agenesis of corpus callosum	2253	FGF8	ORPHA:280200
HP:0001274	Agenesis of corpus callosum	2253	FGF8	ORPHA:93926
HP:0001274	Agenesis of corpus callosum	2253	FGF8	ORPHA:93924
HP:0001274	Agenesis of corpus callosum	2253	FGF8	ORPHA:93925
HP:0001274	Agenesis of corpus callosum	2253	FGF8	ORPHA:220386
HP:0001274	Agenesis of corpus callosum	6496	SIX3	ORPHA:280200
HP:0001274	Agenesis of corpus callosum	6496	SIX3	OMIM:269160
HP:0001274	Agenesis of corpus callosum	6496	SIX3	ORPHA:93926
HP:0001274	Agenesis of corpus callosum	6496	SIX3	ORPHA:93924
HP:0001274	Agenesis of corpus callosum	6496	SIX3	ORPHA:93925
HP:0001274	Agenesis of corpus callosum	6496	SIX3	ORPHA:220386
HP:0001274	Agenesis of corpus callosum	6496	SIX3	OMIM:157170
HP:0001274	Agenesis of corpus callosum	7050	TGIF1	ORPHA:280200
HP:0001274	Agenesis of corpus callosum	7050	TGIF1	ORPHA:93926
HP:0001274	Agenesis of corpus callosum	7050	TGIF1	ORPHA:93924
HP:0001274	Agenesis of corpus callosum	7050	TGIF1	ORPHA:93925
HP:0001274	Agenesis of corpus callosum	7050	TGIF1	ORPHA:220386
HP:0001274	Agenesis of corpus callosum	4838	NODAL	ORPHA:280200
HP:0001274	Agenesis of corpus callosum	4838	NODAL	ORPHA:93926
HP:0001274	Agenesis of corpus callosum	4838	NODAL	ORPHA:93924
HP:0001274	Agenesis of corpus callosum	4838	NODAL	ORPHA:93925
HP:0001274	Agenesis of corpus callosum	4838	NODAL	ORPHA:220386
HP:0001274	Agenesis of corpus callosum	6469	SHH	ORPHA:280200
HP:0001274	Agenesis of corpus callosum	6469	SHH	ORPHA:93926
HP:0001274	Agenesis of corpus callosum	6469	SHH	ORPHA:93924
HP:0001274	Agenesis of corpus callosum	6469	SHH	ORPHA:93925
HP:0001274	Agenesis of corpus callosum	6469	SHH	ORPHA:220386
HP:0001274	Agenesis of corpus callosum	51684	SUFU	ORPHA:280200
HP:0001274	Agenesis of corpus callosum	7546	ZIC2	ORPHA:280200
HP:0001274	Agenesis of corpus callosum	7546	ZIC2	ORPHA:93926
HP:0001274	Agenesis of corpus callosum	7546	ZIC2	ORPHA:93924
HP:0001274	Agenesis of corpus callosum	7546	ZIC2	ORPHA:93925
HP:0001274	Agenesis of corpus callosum	7546	ZIC2	ORPHA:220386
HP:0001274	Agenesis of corpus callosum	2619	GAS1	ORPHA:280200
HP:0001274	Agenesis of corpus callosum	2619	GAS1	ORPHA:93926
HP:0001274	Agenesis of corpus callosum	2619	GAS1	ORPHA:93924
HP:0001274	Agenesis of corpus callosum	2619	GAS1	ORPHA:93925
HP:0001274	Agenesis of corpus callosum	2619	GAS1	ORPHA:220386
HP:0001274	Agenesis of corpus callosum	84976	DISP1	ORPHA:280200
HP:0001274	Agenesis of corpus callosum	84976	DISP1	ORPHA:93926
HP:0001274	Agenesis of corpus callosum	84976	DISP1	ORPHA:93924
HP:0001274	Agenesis of corpus callosum	84976	DISP1	ORPHA:93925
HP:0001274	Agenesis of corpus callosum	84976	DISP1	ORPHA:220386
HP:0001274	Agenesis of corpus callosum	2736	GLI2	ORPHA:280200
HP:0001274	Agenesis of corpus callosum	2736	GLI2	ORPHA:93926
HP:0001274	Agenesis of corpus callosum	2736	GLI2	ORPHA:93924
HP:0001274	Agenesis of corpus callosum	2736	GLI2	ORPHA:93925
HP:0001274	Agenesis of corpus callosum	2736	GLI2	ORPHA:95494
HP:0001274	Agenesis of corpus callosum	2736	GLI2	ORPHA:220386
HP:0001274	Agenesis of corpus callosum	8928	FOXH1	ORPHA:280200
HP:0001274	Agenesis of corpus callosum	8928	FOXH1	ORPHA:93926
HP:0001274	Agenesis of corpus callosum	8928	FOXH1	ORPHA:93924
HP:0001274	Agenesis of corpus callosum	8928	FOXH1	ORPHA:93925
HP:0001274	Agenesis of corpus callosum	8928	FOXH1	ORPHA:220386
HP:0001274	Agenesis of corpus callosum	6997	CRIPTO	ORPHA:280200
HP:0001274	Agenesis of corpus callosum	6997	CRIPTO	ORPHA:93926
HP:0001274	Agenesis of corpus callosum	6997	CRIPTO	ORPHA:93924
HP:0001274	Agenesis of corpus callosum	6997	CRIPTO	ORPHA:93925
HP:0001274	Agenesis of corpus callosum	6997	CRIPTO	ORPHA:220386
HP:0001274	Agenesis of corpus callosum	5727	PTCH1	ORPHA:280200
HP:0001274	Agenesis of corpus callosum	5727	PTCH1	ORPHA:93926
HP:0001274	Agenesis of corpus callosum	5727	PTCH1	ORPHA:93924
HP:0001274	Agenesis of corpus callosum	5727	PTCH1	ORPHA:93925
HP:0001274	Agenesis of corpus callosum	5727	PTCH1	OMIM:610828
HP:0001274	Agenesis of corpus callosum	5727	PTCH1	ORPHA:220386
HP:0001274	Agenesis of corpus callosum	50937	CDON	ORPHA:280200
HP:0001274	Agenesis of corpus callosum	50937	CDON	ORPHA:93926
HP:0001274	Agenesis of corpus callosum	50937	CDON	ORPHA:93924
HP:0001274	Agenesis of corpus callosum	50937	CDON	ORPHA:93925
HP:0001274	Agenesis of corpus callosum	50937	CDON	OMIM:614226
HP:0001274	Agenesis of corpus callosum	50937	CDON	ORPHA:220386
HP:0001274	Agenesis of corpus callosum	2263	FGFR2	ORPHA:87
HP:0001274	Agenesis of corpus callosum	2263	FGFR2	OMIM:123790
HP:0001274	Agenesis of corpus callosum	2263	FGFR2	OMIM:101200
HP:0001274	Agenesis of corpus callosum	56992	KIF15	ORPHA:261323
HP:0001274	Agenesis of corpus callosum	51360	MBTPS2	ORPHA:2273
HP:0001274	Agenesis of corpus callosum	284058	KANSL1	ORPHA:363958
HP:0001274	Agenesis of corpus callosum	284058	KANSL1	ORPHA:363965
HP:0001274	Agenesis of corpus callosum	347733	TUBB2B	ORPHA:300573
HP:0001274	Agenesis of corpus callosum	347733	TUBB2B	OMIM:610031
HP:0001274	Agenesis of corpus callosum	1020	CDK5	OMIM:616342
HP:0001274	Agenesis of corpus callosum	83871	RAB34	OMIM:620718
HP:0001274	Agenesis of corpus callosum	23522	KAT6B	OMIM:606170
HP:0001274	Agenesis of corpus callosum	23522	KAT6B	ORPHA:85201
HP:0001274	Agenesis of corpus callosum	5173	PDYN	OMIM:610245
HP:0001274	Agenesis of corpus callosum	55681	SCYL2	OMIM:618766
HP:0001274	Agenesis of corpus callosum	3845	KRAS	ORPHA:2396
HP:0001274	Agenesis of corpus callosum	3845	KRAS	ORPHA:3339
HP:0001274	Agenesis of corpus callosum	2018	EMX2	OMIM:269160
HP:0001274	Agenesis of corpus callosum	546	ATRX	ORPHA:847
HP:0001274	Agenesis of corpus callosum	7080	NKX2-1	ORPHA:209905
HP:0001274	Agenesis of corpus callosum	6597	SMARCA4	OMIM:614609
HP:0001274	Agenesis of corpus callosum	6597	SMARCA4	ORPHA:1465
HP:0001274	Agenesis of corpus callosum	9401	RECQL4	OMIM:218600
HP:0001274	Agenesis of corpus callosum	4524	MTHFR	ORPHA:563612
HP:0001274	Agenesis of corpus callosum	57216	VANGL2	ORPHA:563612
HP:0001274	Agenesis of corpus callosum	171023	ASXL1	ORPHA:97297
HP:0001274	Agenesis of corpus callosum	171023	ASXL1	OMIM:605039
HP:0001274	Agenesis of corpus callosum	9896	FIG4	ORPHA:3472
HP:0001274	Agenesis of corpus callosum	9896	FIG4	OMIM:216340
HP:0001274	Agenesis of corpus callosum	55697	VAC14	ORPHA:3472
HP:0001274	Agenesis of corpus callosum	10815	CPLX1	ORPHA:280
HP:0001274	Agenesis of corpus callosum	10815	CPLX1	OMIM:194190
HP:0001274	Agenesis of corpus callosum	54872	PIGG	ORPHA:280
HP:0001274	Agenesis of corpus callosum	7469	NELFA	ORPHA:280
HP:0001274	Agenesis of corpus callosum	1487	CTBP1	ORPHA:280
HP:0001274	Agenesis of corpus callosum	1487	CTBP1	OMIM:194190
HP:0001274	Agenesis of corpus callosum	3954	LETM1	ORPHA:280
HP:0001274	Agenesis of corpus callosum	3954	LETM1	OMIM:194190
HP:0001274	Agenesis of corpus callosum	7468	NSD2	ORPHA:280
HP:0001274	Agenesis of corpus callosum	7468	NSD2	OMIM:194190
HP:0001274	Agenesis of corpus callosum	22872	SEC31A	OMIM:618651
HP:0001274	Agenesis of corpus callosum	57498	KIDINS220	OMIM:619501
HP:0001274	Agenesis of corpus callosum	55012	PPP2R3C	OMIM:618419
HP:0001274	Agenesis of corpus callosum	6491	STIL	ORPHA:93926
HP:0001274	Agenesis of corpus callosum	6491	STIL	ORPHA:93924
HP:0001274	Agenesis of corpus callosum	6491	STIL	ORPHA:93925
HP:0001274	Agenesis of corpus callosum	6491	STIL	ORPHA:220386
HP:0001274	Agenesis of corpus callosum	6491	STIL	ORPHA:2512
HP:0001274	Agenesis of corpus callosum	51021	MRPS16	OMIM:610498
HP:0001274	Agenesis of corpus callosum	11193	WBP4	OMIM:620852
HP:0001274	Agenesis of corpus callosum	23007	PLCH1	ORPHA:93925
HP:0001274	Agenesis of corpus callosum	10735	STAG2	ORPHA:93925
HP:0001274	Agenesis of corpus callosum	10735	STAG2	OMIM:301043
HP:0001274	Agenesis of corpus callosum	10735	STAG2	ORPHA:220386
HP:0001274	Agenesis of corpus callosum	79731	NARS2	OMIM:616239
HP:0001274	Agenesis of corpus callosum	6602	SMARCD1	OMIM:618779
HP:0001274	Agenesis of corpus callosum	6602	SMARCD1	ORPHA:1465
HP:0001274	Agenesis of corpus callosum	55623	THUMPD1	OMIM:619989
HP:0001274	Agenesis of corpus callosum	53834	FGFRL1	OMIM:194190
HP:0001274	Agenesis of corpus callosum	26227	PHGDH	OMIM:256520
HP:0001274	Agenesis of corpus callosum	2074	ERCC6	OMIM:214150
HP:0001274	Agenesis of corpus callosum	3192	HNRNPU	ORPHA:238769
HP:0001274	Agenesis of corpus callosum	9653	HS2ST1	OMIM:619194
HP:0001274	Agenesis of corpus callosum	129563	DIS3L2	OMIM:267000
HP:0001274	Agenesis of corpus callosum	1947	EFNB1	OMIM:304110
HP:0001274	Agenesis of corpus callosum	5518	PPP2R1A	OMIM:616362
HP:0001274	Agenesis of corpus callosum	5518	PPP2R1A	ORPHA:457284
HP:0001274	Agenesis of corpus callosum	1182	CLCN3	OMIM:619512
HP:0001274	Agenesis of corpus callosum	23512	SUZ12	OMIM:618786
HP:0001274	Agenesis of corpus callosum	6608	SMO	OMIM:601707
HP:0001274	Agenesis of corpus callosum	6608	SMO	ORPHA:1553
HP:0001274	Agenesis of corpus callosum	54539	NDUFB11	OMIM:309801
HP:0001274	Agenesis of corpus callosum	54539	NDUFB11	ORPHA:2556
HP:0001274	Agenesis of corpus callosum	54539	NDUFB11	OMIM:300952
HP:0001274	Agenesis of corpus callosum	1349	COX7B	OMIM:309801
HP:0001274	Agenesis of corpus callosum	1349	COX7B	OMIM:300887
HP:0001274	Agenesis of corpus callosum	1349	COX7B	ORPHA:2556
HP:0001274	Agenesis of corpus callosum	3052	HCCS	OMIM:309801
HP:0001274	Agenesis of corpus callosum	3052	HCCS	ORPHA:2556
HP:0001274	Agenesis of corpus callosum	55773	TBC1D23	OMIM:617695
HP:0001274	Agenesis of corpus callosum	5626	PROP1	ORPHA:226307
HP:0001274	Agenesis of corpus callosum	5626	PROP1	ORPHA:95494
HP:0001274	Agenesis of corpus callosum	89884	LHX4	ORPHA:226307
HP:0001274	Agenesis of corpus callosum	89884	LHX4	ORPHA:95494
HP:0001274	Agenesis of corpus callosum	8022	LHX3	ORPHA:226307
HP:0001274	Agenesis of corpus callosum	5449	POU1F1	ORPHA:226307
HP:0001274	Agenesis of corpus callosum	5449	POU1F1	ORPHA:95494
HP:0001274	Agenesis of corpus callosum	8820	HESX1	ORPHA:226307
HP:0001274	Agenesis of corpus callosum	8820	HESX1	ORPHA:95494
HP:0001274	Agenesis of corpus callosum	8820	HESX1	OMIM:182230
HP:0001274	Agenesis of corpus callosum	8820	HESX1	ORPHA:3157
HP:0001274	Agenesis of corpus callosum	4519	MT-CYB	ORPHA:137675
HP:0001274	Agenesis of corpus callosum	5828	PEX2	OMIM:614866
HP:0001274	Agenesis of corpus callosum	5590	PRKCZ	ORPHA:1606
HP:0001274	Agenesis of corpus callosum	2563	GABRD	ORPHA:1606
HP:0001274	Agenesis of corpus callosum	23013	SPEN	ORPHA:1606
HP:0001274	Agenesis of corpus callosum	23013	SPEN	OMIM:619312
HP:0001274	Agenesis of corpus callosum	8510	MMP23B	ORPHA:1606
HP:0001274	Agenesis of corpus callosum	7798	LUZP1	ORPHA:1606
HP:0001274	Agenesis of corpus callosum	6497	SKI	ORPHA:1606
HP:0001274	Agenesis of corpus callosum	10630	PDPN	ORPHA:1606
HP:0001274	Agenesis of corpus callosum	3339	HSPG2	ORPHA:1606
HP:0001274	Agenesis of corpus callosum	10277	UBE4B	ORPHA:1606
HP:0001274	Agenesis of corpus callosum	8514	KCNAB2	ORPHA:1606
HP:0001274	Agenesis of corpus callosum	473	RERE	ORPHA:1606
HP:0001274	Agenesis of corpus callosum	63976	PRDM16	ORPHA:1606
HP:0001274	Agenesis of corpus callosum	54897	CASZ1	ORPHA:1606
HP:0001274	Agenesis of corpus callosum	11128	POLR3A	OMIM:264090
HP:0001274	Agenesis of corpus callosum	11128	POLR3A	ORPHA:3455
HP:0001274	Agenesis of corpus callosum	6558	SLC12A2	OMIM:619083
HP:0001274	Agenesis of corpus callosum	10236	HNRNPR	OMIM:620073
HP:0001274	Agenesis of corpus callosum	4036	LRP2	OMIM:222448
HP:0001274	Agenesis of corpus callosum	3170	FOXA2	ORPHA:95494
HP:0001274	Agenesis of corpus callosum	5015	OTX2	ORPHA:95494
HP:0001274	Agenesis of corpus callosum	5015	OTX2	ORPHA:990
HP:0001274	Agenesis of corpus callosum	5015	OTX2	ORPHA:3157
HP:0001274	Agenesis of corpus callosum	83479	DDX59	ORPHA:2919
HP:0001274	Agenesis of corpus callosum	83479	DDX59	OMIM:174300
HP:0001274	Agenesis of corpus callosum	11041	B4GAT1	OMIM:615287
HP:0001274	Agenesis of corpus callosum	11041	B4GAT1	ORPHA:899
HP:0001274	Agenesis of corpus callosum	113179	ADAT3	OMIM:615286
HP:0001274	Agenesis of corpus callosum	113179	ADAT3	ORPHA:363528
HP:0001274	Agenesis of corpus callosum	1654	DDX3X	ORPHA:3338
HP:0001274	Agenesis of corpus callosum	9928	KIF14	OMIM:616258
HP:0001274	Agenesis of corpus callosum	9928	KIF14	OMIM:617914
HP:0001274	Agenesis of corpus callosum	9928	KIF14	ORPHA:2512
HP:0001274	Agenesis of corpus callosum	8481	OFD1	OMIM:311200
HP:0001274	Agenesis of corpus callosum	8481	OFD1	ORPHA:2750
HP:0001274	Agenesis of corpus callosum	10472	ZBTB18	OMIM:612337
HP:0001274	Agenesis of corpus callosum	79633	FAT4	ORPHA:314679
HP:0001274	Agenesis of corpus callosum	8642	DCHS1	ORPHA:314679
HP:0001274	Agenesis of corpus callosum	57492	ARID1B	ORPHA:251056
HP:0001274	Agenesis of corpus callosum	57492	ARID1B	ORPHA:1465
HP:0001274	Agenesis of corpus callosum	57688	ZSWIM6	OMIM:603671
HP:0001274	Agenesis of corpus callosum	57688	ZSWIM6	ORPHA:1827
HP:0001274	Agenesis of corpus callosum	7846	TUBA1A	ORPHA:171680
HP:0001274	Agenesis of corpus callosum	7846	TUBA1A	OMIM:611603
HP:0001274	Agenesis of corpus callosum	2271	FH	OMIM:606812
HP:0001274	Agenesis of corpus callosum	57724	EPG5	OMIM:242840
HP:0001274	Agenesis of corpus callosum	57724	EPG5	ORPHA:1493
HP:0001274	Agenesis of corpus callosum	63895	PIEZO2	OMIM:248700
HP:0001274	Agenesis of corpus callosum	63895	PIEZO2	ORPHA:2461
HP:0001274	Agenesis of corpus callosum	2239	GPC4	ORPHA:373
HP:0001274	Agenesis of corpus callosum	2239	GPC4	OMIM:312870
HP:0001274	Agenesis of corpus callosum	2719	GPC3	ORPHA:373
HP:0001274	Agenesis of corpus callosum	2719	GPC3	OMIM:312870
HP:0001274	Agenesis of corpus callosum	197258	FCSK	OMIM:618324
HP:0001274	Agenesis of corpus callosum	10463	SLC30A9	OMIM:617595
HP:0001274	Agenesis of corpus callosum	8565	YARS1	OMIM:619418
HP:0001274	Agenesis of corpus callosum	2678	GGT1	OMIM:231950
HP:0001274	Agenesis of corpus callosum	64919	BCL11B	OMIM:617237
HP:0001274	Agenesis of corpus callosum	11023	VAX1	OMIM:614402
HP:0001274	Agenesis of corpus callosum	701	BUB1B	OMIM:257300
HP:0001274	Agenesis of corpus callosum	257	ALX3	OMIM:136760
HP:0001274	Agenesis of corpus callosum	51645	PPIL1	OMIM:619301
HP:0001274	Agenesis of corpus callosum	51362	CDC40	OMIM:619302
HP:0001274	Agenesis of corpus callosum	8621	CDK13	OMIM:617360
HP:0001274	Agenesis of corpus callosum	5881	RAC3	OMIM:618577
HP:0001274	Agenesis of corpus callosum	60529	ALX4	ORPHA:228390
HP:0001274	Agenesis of corpus callosum	55280	CWF19L1	ORPHA:453521
HP:0001274	Agenesis of corpus callosum	3897	L1CAM	ORPHA:2466
HP:0001274	Agenesis of corpus callosum	3897	L1CAM	OMIM:303350
HP:0001274	Agenesis of corpus callosum	3897	L1CAM	OMIM:307000
HP:0001274	Agenesis of corpus callosum	3897	L1CAM	ORPHA:2182
HP:0001274	Agenesis of corpus callosum	9851	KIAA0753	OMIM:617127
HP:0001274	Agenesis of corpus callosum	9990	SLC12A6	ORPHA:1496
HP:0001274	Agenesis of corpus callosum	9990	SLC12A6	OMIM:218000
HP:0001274	Agenesis of corpus callosum	164	AP1G1	OMIM:619548
HP:0001274	Agenesis of corpus callosum	1801	DPH1	ORPHA:459061
HP:0001274	Agenesis of corpus callosum	1802	DPH2	ORPHA:459061
HP:0001274	Agenesis of corpus callosum	22827	PUF60	ORPHA:508498
HP:0001274	Agenesis of corpus callosum	5888	RAD51	ORPHA:238722
HP:0001274	Agenesis of corpus callosum	5888	RAD51	OMIM:157600
HP:0001274	Agenesis of corpus callosum	10126	DNAL4	ORPHA:238722
HP:0001274	Agenesis of corpus callosum	9423	NTN1	ORPHA:238722
HP:0001274	Agenesis of corpus callosum	9423	NTN1	OMIM:157600
HP:0001274	Agenesis of corpus callosum	4558	MT-TF	ORPHA:550
HP:0001274	Agenesis of corpus callosum	4572	MT-TQ	ORPHA:550
HP:0001274	Agenesis of corpus callosum	4512	MT-CO1	ORPHA:550
HP:0001274	Agenesis of corpus callosum	4513	MT-CO2	ORPHA:550
HP:0001274	Agenesis of corpus callosum	4514	MT-CO3	ORPHA:550
HP:0001274	Agenesis of corpus callosum	4578	MT-TW	ORPHA:550
HP:0001274	Agenesis of corpus callosum	4540	MT-ND5	ORPHA:550
HP:0001274	Agenesis of corpus callosum	4541	MT-ND6	ORPHA:550
HP:0001274	Agenesis of corpus callosum	4535	MT-ND1	ORPHA:550
HP:0001274	Agenesis of corpus callosum	4538	MT-ND4	ORPHA:550
HP:0001274	Agenesis of corpus callosum	4567	MT-TL1	ORPHA:550
HP:0001274	Agenesis of corpus callosum	4574	MT-TS1	ORPHA:550
HP:0001274	Agenesis of corpus callosum	4575	MT-TS2	ORPHA:550
HP:0001274	Agenesis of corpus callosum	4564	MT-TH	ORPHA:550
HP:0001274	Agenesis of corpus callosum	56896	DPYSL5	OMIM:619435
HP:0001274	Agenesis of corpus callosum	2879	GPX4	ORPHA:93317
HP:0001274	Agenesis of corpus callosum	100151683	RNU4ATAC	OMIM:210710
HP:0001274	Agenesis of corpus callosum	54973	INTS11	OMIM:620428
HP:0001274	Agenesis of corpus callosum	5396	PRRX1	OMIM:202650
HP:0001274	Agenesis of corpus callosum	5396	PRRX1	ORPHA:990
HP:0001274	Agenesis of corpus callosum	51807	TUBA8	ORPHA:250972
HP:0001274	Agenesis of corpus callosum	6091	ROBO1	OMIM:620305
HP:0001274	Agenesis of corpus callosum	7545	ZIC1	OMIM:616602
HP:0001274	Agenesis of corpus callosum	7545	ZIC1	OMIM:618736
HP:0001274	Agenesis of corpus callosum	11267	SNF8	OMIM:620784
HP:0001274	Agenesis of corpus callosum	11267	SNF8	OMIM:620783
HP:0001274	Agenesis of corpus callosum	79813	EHMT1	ORPHA:96147
HP:0001274	Agenesis of corpus callosum	84320	ACBD6	OMIM:620785
HP:0001274	Agenesis of corpus callosum	7473	WNT3	ORPHA:3301
HP:0001274	Agenesis of corpus callosum	340419	RSPO2	ORPHA:3301
HP:0001274	Agenesis of corpus callosum	9496	TBX4	ORPHA:3301
HP:0001274	Agenesis of corpus callosum	8050	PDHX	ORPHA:255182
HP:0001274	Agenesis of corpus callosum	55593	OTUD5	OMIM:301056
HP:0001274	Agenesis of corpus callosum	7707	ZNF148	OMIM:617260
HP:0001274	Agenesis of corpus callosum	1436	CSF1R	OMIM:618476
HP:0001274	Agenesis of corpus callosum	5649	RELN	ORPHA:89844
HP:0001274	Agenesis of corpus callosum	10300	KATNB1	ORPHA:89844
HP:0001274	Agenesis of corpus callosum	54820	NDE1	ORPHA:89844
HP:0001274	Agenesis of corpus callosum	54820	NDE1	OMIM:605013
HP:0001274	Agenesis of corpus callosum	54820	NDE1	OMIM:614019
HP:0001274	Agenesis of corpus callosum	23030	KDM4B	OMIM:619320
HP:0001274	Agenesis of corpus callosum	5160	PDHA1	OMIM:312170
HP:0001274	Agenesis of corpus callosum	5160	PDHA1	ORPHA:79243
HP:0001274	Agenesis of corpus callosum	3313	HSPA9	OMIM:616854
HP:0001274	Agenesis of corpus callosum	1806	DPYD	OMIM:274270
HP:0001274	Agenesis of corpus callosum	55215	FANCI	OMIM:609053
HP:0001274	Agenesis of corpus callosum	8320	EOMES	ORPHA:171703
HP:0001274	Agenesis of corpus callosum	79133	NDUFAF5	OMIM:618238
HP:0001274	Agenesis of corpus callosum	157922	CAMSAP1	OMIM:620316
HP:0001274	Agenesis of corpus callosum	55997	CFC1	OMIM:605376
HP:0001274	Agenesis of corpus callosum	29954	POMT2	OMIM:236670
HP:0001274	Agenesis of corpus callosum	29954	POMT2	ORPHA:899
HP:0001274	Agenesis of corpus callosum	29954	POMT2	ORPHA:370959
HP:0001274	Agenesis of corpus callosum	29954	POMT2	OMIM:613150
HP:0001274	Agenesis of corpus callosum	79147	FKRP	OMIM:236670
HP:0001274	Agenesis of corpus callosum	79147	FKRP	ORPHA:899
HP:0001274	Agenesis of corpus callosum	79147	FKRP	ORPHA:370959
HP:0001274	Agenesis of corpus callosum	79147	FKRP	OMIM:613153
HP:0001274	Agenesis of corpus callosum	2218	FKTN	OMIM:236670
HP:0001274	Agenesis of corpus callosum	2218	FKTN	ORPHA:899
HP:0001274	Agenesis of corpus callosum	2218	FKTN	OMIM:253800
HP:0001274	Agenesis of corpus callosum	10585	POMT1	OMIM:236670
HP:0001274	Agenesis of corpus callosum	10585	POMT1	ORPHA:899
HP:0001274	Agenesis of corpus callosum	10585	POMT1	ORPHA:370959
HP:0001274	Agenesis of corpus callosum	9215	LARGE1	OMIM:236670
HP:0001274	Agenesis of corpus callosum	9215	LARGE1	ORPHA:899
HP:0001274	Agenesis of corpus callosum	84892	POMGNT2	ORPHA:899
HP:0001274	Agenesis of corpus callosum	148789	B3GALNT2	ORPHA:899
HP:0001274	Agenesis of corpus callosum	1282	COL4A1	ORPHA:899
HP:0001274	Agenesis of corpus callosum	729920	CRPPA	ORPHA:899
HP:0001274	Agenesis of corpus callosum	10329	RXYLT1	ORPHA:899
HP:0001274	Agenesis of corpus callosum	1605	DAG1	ORPHA:899
HP:0001274	Agenesis of corpus callosum	55624	POMGNT1	ORPHA:899
HP:0001274	Agenesis of corpus callosum	55624	POMGNT1	ORPHA:370959
HP:0001274	Agenesis of corpus callosum	6657	SOX2	ORPHA:77298
HP:0001274	Agenesis of corpus callosum	6657	SOX2	OMIM:206900
HP:0001274	Agenesis of corpus callosum	6657	SOX2	ORPHA:3157
HP:0001274	Agenesis of corpus callosum	4784	NFIX	OMIM:602535
HP:0001274	Agenesis of corpus callosum	63925	ZNF335	OMIM:615095
HP:0001274	Agenesis of corpus callosum	22930	RAB3GAP1	OMIM:600118
HP:0001274	Agenesis of corpus callosum	2657	GDF1	OMIM:208530
HP:0001274	Agenesis of corpus callosum	6598	SMARCB1	ORPHA:1465
HP:0001274	Agenesis of corpus callosum	6659	SOX4	ORPHA:1465
HP:0001274	Agenesis of corpus callosum	8289	ARID1A	ORPHA:1465
HP:0001274	Agenesis of corpus callosum	5977	DPF2	ORPHA:1465
HP:0001274	Agenesis of corpus callosum	6601	SMARCC2	ORPHA:1465
HP:0001274	Agenesis of corpus callosum	196528	ARID2	ORPHA:1465
HP:0001274	Agenesis of corpus callosum	6605	SMARCE1	ORPHA:1465
HP:0001274	Agenesis of corpus callosum	6664	SOX11	ORPHA:1465
HP:0001274	Agenesis of corpus callosum	5831	PYCR1	OMIM:612940
HP:0001274	Agenesis of corpus callosum	29920	PYCR2	ORPHA:481152
HP:0001274	Agenesis of corpus callosum	29920	PYCR2	ORPHA:2512
HP:0001274	Agenesis of corpus callosum	1063	CENPF	OMIM:243605
HP:0001274	Agenesis of corpus callosum	9361	LONP1	ORPHA:79243
HP:0001274	Agenesis of corpus callosum	51608	GET4	OMIM:620200
HP:0001274	Agenesis of corpus callosum	1000	CDH2	OMIM:618929
HP:0001274	Agenesis of corpus callosum	1781	DYNC1I2	OMIM:618492
HP:0001274	Agenesis of corpus callosum	1583	CYP11A1	ORPHA:289548
HP:0001274	Agenesis of corpus callosum	1583	CYP11A1	ORPHA:168558
HP:0001274	Agenesis of corpus callosum	1641	DCX	OMIM:300067
HP:0001274	Agenesis of corpus callosum	7161	TP73	OMIM:619466
HP:0001274	Agenesis of corpus callosum	2009	EML1	OMIM:600348
HP:0001274	Agenesis of corpus callosum	84342	COG8	OMIM:611182
HP:0001274	Agenesis of corpus callosum	5395	PMS2	OMIM:619101
HP:0001274	Agenesis of corpus callosum	4990	SIX6	OMIM:206900
HP:0001274	Agenesis of corpus callosum	2313	FLI1	ORPHA:2308
HP:0001274	Agenesis of corpus callosum	60386	SLC25A19	ORPHA:99742
HP:0001274	Agenesis of corpus callosum	60	ACTB	OMIM:243310
HP:0001274	Agenesis of corpus callosum	64840	PORCN	OMIM:305600
HP:0001274	Agenesis of corpus callosum	9791	PTDSS1	OMIM:151050
HP:0001274	Agenesis of corpus callosum	9791	PTDSS1	ORPHA:2658
HP:0001274	Agenesis of corpus callosum	2290	FOXG1	ORPHA:261144
HP:0001274	Agenesis of corpus callosum	65250	CPLANE1	OMIM:277170
HP:0001274	Agenesis of corpus callosum	71	ACTG1	OMIM:614583
HP:0001274	Agenesis of corpus callosum	8092	ALX1	ORPHA:306542
HP:0001274	Agenesis of corpus callosum	28962	OSTM1	ORPHA:85179
HP:0001274	Agenesis of corpus callosum	348180	CTU2	OMIM:618142
HP:0001274	Agenesis of corpus callosum	57545	CC2D2A	OMIM:619111
HP:0001274	Agenesis of corpus callosum	145173	B3GLCT	OMIM:261540
HP:0001274	Agenesis of corpus callosum	2033	EP300	OMIM:180849
HP:0001274	Agenesis of corpus callosum	1387	CREBBP	OMIM:180849
HP:0001274	Agenesis of corpus callosum	4659	PPP1R12A	OMIM:618820
HP:0001274	Agenesis of corpus callosum	9968	MED12	OMIM:309520
HP:0001274	Agenesis of corpus callosum	26576	SRPK3	OMIM:301134
HP:0001274	Agenesis of corpus callosum	29925	GMPPB	ORPHA:370959
HP:0001274	Agenesis of corpus callosum	5162	PDHB	ORPHA:255138
HP:0001274	Agenesis of corpus callosum	5162	PDHB	OMIM:614111
HP:0001274	Agenesis of corpus callosum	374879	ZNF699	OMIM:619488
HP:0001274	Agenesis of corpus callosum	55640	FLVCR2	OMIM:225790
HP:0001274	Agenesis of corpus callosum	91875	TTC5	OMIM:619244
HP:0001274	Agenesis of corpus callosum	80210	ARMC9	OMIM:617622
HP:0001274	Agenesis of corpus callosum	6299	SALL1	ORPHA:857
HP:0001274	Agenesis of corpus callosum	51339	DACT1	ORPHA:857
HP:0001274	Agenesis of corpus callosum	118924	FRA10AC1	OMIM:620113
HP:0001274	Agenesis of corpus callosum	113246	C12orf57	OMIM:218340
HP:0001274	Agenesis of corpus callosum	1759	DNM1	OMIM:620352
HP:0001274	Agenesis of corpus callosum	80208	SPG11	OMIM:604360
HP:0001274	Agenesis of corpus callosum	55691	FRMD4A	ORPHA:466688
HP:0001274	Agenesis of corpus callosum	25782	RAB3GAP2	ORPHA:401830
HP:0001274	Agenesis of corpus callosum	1376	CPT2	OMIM:608836
HP:0001274	Agenesis of corpus callosum	1376	CPT2	ORPHA:228308
HP:0001274	Agenesis of corpus callosum	259266	ASPM	OMIM:608716
HP:0001274	Agenesis of corpus callosum	259266	ASPM	ORPHA:2512
HP:0001274	Agenesis of corpus callosum	2177	FANCD2	OMIM:227646
HP:0001274	Agenesis of corpus callosum	652	BMP4	ORPHA:139471
HP:0001274	Agenesis of corpus callosum	84823	LMNB2	OMIM:616540
HP:0001274	Agenesis of corpus callosum	4781	NFIB	OMIM:618286
HP:0001274	Agenesis of corpus callosum	8243	SMC1A	ORPHA:220386
HP:0001274	Agenesis of corpus callosum	8777	MPDZ	OMIM:615219
HP:0001274	Agenesis of corpus callosum	5430	POLR2A	OMIM:618603
HP:0001274	Agenesis of corpus callosum	124454	EARS2	OMIM:614924
HP:0001274	Agenesis of corpus callosum	219844	HYLS1	OMIM:236680
HP:0001274	Agenesis of corpus callosum	219844	HYLS1	ORPHA:2189
HP:0001274	Agenesis of corpus callosum	4292	MLH1	OMIM:276300
HP:0001274	Agenesis of corpus callosum	9276	COPB2	ORPHA:2512
HP:0001274	Agenesis of corpus callosum	22995	CEP152	ORPHA:2512
HP:0001274	Agenesis of corpus callosum	284403	WDR62	ORPHA:2512
HP:0001274	Agenesis of corpus callosum	55262	TRAPPC14	ORPHA:2512
HP:0001274	Agenesis of corpus callosum	163786	SASS6	ORPHA:2512
HP:0001274	Agenesis of corpus callosum	84879	MFSD2A	ORPHA:2512
HP:0001274	Agenesis of corpus callosum	4176	MCM7	ORPHA:2512
HP:0001274	Agenesis of corpus callosum	80254	CEP63	ORPHA:2512
HP:0001274	Agenesis of corpus callosum	29081	METTL5	ORPHA:2512
HP:0001274	Agenesis of corpus callosum	79023	NUP37	ORPHA:2512
HP:0001274	Agenesis of corpus callosum	23310	NCAPD3	ORPHA:2512
HP:0001274	Agenesis of corpus callosum	6301	SARS1	ORPHA:2512
HP:0001274	Agenesis of corpus callosum	55755	CDK5RAP2	ORPHA:2512
HP:0001274	Agenesis of corpus callosum	79648	MCPH1	ORPHA:2512
HP:0001274	Agenesis of corpus callosum	7109	TRAPPC10	ORPHA:2512
HP:0001274	Agenesis of corpus callosum	7453	WARS1	ORPHA:2512
HP:0001274	Agenesis of corpus callosum	1911	PHC1	ORPHA:2512
HP:0001274	Agenesis of corpus callosum	1062	CENPE	ORPHA:2512
HP:0001274	Agenesis of corpus callosum	6884	TAF13	ORPHA:2512
HP:0001274	Agenesis of corpus callosum	9662	CEP135	ORPHA:2512
HP:0001274	Agenesis of corpus callosum	57082	KNL1	ORPHA:2512
HP:0001274	Agenesis of corpus callosum	1021	CDK6	ORPHA:2512
HP:0001274	Agenesis of corpus callosum	18	ABAT	OMIM:613163
HP:0001274	Agenesis of corpus callosum	8449	DHX16	OMIM:618733
HP:0001274	Agenesis of corpus callosum	26123	TCTN3	OMIM:614815
HP:0001274	Agenesis of corpus callosum	128674	PROKR2	ORPHA:3157
HP:0001274	Agenesis of corpus callosum	6658	SOX3	ORPHA:3157
HP:0001274	Agenesis of corpus callosum	9915	ARNT2	ORPHA:3157
HP:0001274	Agenesis of corpus callosum	26275	HIBCH	OMIM:250620
HP:0001274	Agenesis of corpus callosum	58499	ZNF462	OMIM:618619
HP:0001274	Agenesis of corpus callosum	283450	HECTD4	OMIM:620250
HP:0001274	Agenesis of corpus callosum	2615	LRRC32	OMIM:619074
HP:0001274	Agenesis of corpus callosum	10128	LRPPRC	OMIM:220111
HP:0001274	Agenesis of corpus callosum	29899	GPSM2	OMIM:604213
HP:0001274	Agenesis of corpus callosum	10785	WDR4	OMIM:618346
HP:0001274	Agenesis of corpus callosum	26005	C2CD3	ORPHA:434179
HP:0001274	Agenesis of corpus callosum	26005	C2CD3	OMIM:615948
HP:0001274	Agenesis of corpus callosum	10765	KDM5B	OMIM:618109
HP:0001274	Agenesis of corpus callosum	6938	TCF12	OMIM:615314
HP:0001274	Agenesis of corpus callosum	11198	SUPT16H	OMIM:619480
HP:0001274	Agenesis of corpus callosum	136647	MPLKIP	OMIM:234050
HP:0001274	Agenesis of corpus callosum	136647	MPLKIP	ORPHA:33364
HP:0001274	Agenesis of corpus callosum	10733	PLK4	OMIM:616171
HP:0001274	Agenesis of corpus callosum	4190	MDH1	OMIM:618959
HP:0001274	Agenesis of corpus callosum	139285	AMER1	OMIM:300373
HP:0001274	Agenesis of corpus callosum	7143	TNR	OMIM:619653
HP:0001274	Agenesis of corpus callosum	4123	MAN2C1	OMIM:619775
HP:0001274	Agenesis of corpus callosum	64324	NSD1	OMIM:117550
HP:0001274	Agenesis of corpus callosum	203068	TUBB	OMIM:615771
HP:0001274	Agenesis of corpus callosum	54916	TMEM260	OMIM:617478
HP:0001274	Agenesis of corpus callosum	93627	TBCK	OMIM:616900
HP:0001274	Agenesis of corpus callosum	404672	GTF2H5	ORPHA:33364
HP:0001274	Agenesis of corpus callosum	833	CARS1	ORPHA:33364
HP:0001274	Agenesis of corpus callosum	2068	ERCC2	ORPHA:33364
HP:0001274	Agenesis of corpus callosum	7737	RNF113A	ORPHA:33364
HP:0001274	Agenesis of corpus callosum	6897	TARS1	ORPHA:33364
HP:0001274	Agenesis of corpus callosum	16	AARS1	ORPHA:33364
HP:0001274	Agenesis of corpus callosum	2071	ERCC3	ORPHA:33364
HP:0001274	Agenesis of corpus callosum	2961	GTF2E2	ORPHA:33364
HP:0001274	Agenesis of corpus callosum	1717	DHCR7	OMIM:270400
HP:0001274	Agenesis of corpus callosum	64432	MRPS25	OMIM:619025
HP:0001274	Agenesis of corpus callosum	10524	KAT5	OMIM:619103
HP:0001276	Hypertonia	10749	KIF1C	ORPHA:397946
HP:0001276	Hypertonia	10749	KIF1C	OMIM:611302
HP:0001276	Hypertonia	4287	ATXN3	OMIM:109150
HP:0001276	Hypertonia	4287	ATXN3	ORPHA:276238
HP:0001276	Hypertonia	4287	ATXN3	ORPHA:276244
HP:0001276	Hypertonia	4287	ATXN3	ORPHA:276241
HP:0001276	Hypertonia	55703	POLR3B	OMIM:614381
HP:0001276	Hypertonia	55703	POLR3B	OMIM:619742
HP:0001276	Hypertonia	55703	POLR3B	OMIM:607694
HP:0001276	Hypertonia	23141	ANKLE2	OMIM:616681
HP:0001276	Hypertonia	4099	MAG	OMIM:616680
HP:0001276	Hypertonia	4099	MAG	ORPHA:459056
HP:0001276	Hypertonia	10159	ATP6AP2	OMIM:300911
HP:0001276	Hypertonia	10159	ATP6AP2	OMIM:300423
HP:0001276	Hypertonia	10159	ATP6AP2	ORPHA:363654
HP:0001276	Hypertonia	8367	H4C5	OMIM:619950
HP:0001276	Hypertonia	104	ADARB1	OMIM:618862
HP:0001276	Hypertonia	23019	CNOT1	OMIM:618500
HP:0001276	Hypertonia	776	CACNA1D	OMIM:615474
HP:0001276	Hypertonia	9853	RUSC2	OMIM:617773
HP:0001276	Hypertonia	55823	VPS11	OMIM:616683
HP:0001276	Hypertonia	55823	VPS11	ORPHA:466934
HP:0001276	Hypertonia	4750	NEK1	OMIM:617892
HP:0001276	Hypertonia	4750	NEK1	ORPHA:803
HP:0001276	Hypertonia	51569	UFM1	OMIM:617899
HP:0001276	Hypertonia	6873	TAF2	OMIM:615599
HP:0001276	Hypertonia	6873	TAF2	ORPHA:397951
HP:0001276	Hypertonia	7360	UGP2	OMIM:618744
HP:0001276	Hypertonia	81857	MED25	OMIM:616449
HP:0001276	Hypertonia	81857	MED25	ORPHA:464738
HP:0001276	Hypertonia	1786	DNMT1	ORPHA:314404
HP:0001276	Hypertonia	1786	DNMT1	OMIM:604121
HP:0001276	Hypertonia	11160	ERLIN2	ORPHA:247604
HP:0001276	Hypertonia	11160	ERLIN2	ORPHA:209951
HP:0001276	Hypertonia	10084	PQBP1	ORPHA:93950
HP:0001276	Hypertonia	10084	PQBP1	ORPHA:93947
HP:0001276	Hypertonia	10084	PQBP1	OMIM:309500
HP:0001276	Hypertonia	5354	PLP1	ORPHA:99015
HP:0001276	Hypertonia	5354	PLP1	ORPHA:280219
HP:0001276	Hypertonia	3074	HEXB	ORPHA:309169
HP:0001276	Hypertonia	3074	HEXB	ORPHA:309155
HP:0001276	Hypertonia	3074	HEXB	OMIM:268800
HP:0001276	Hypertonia	3020	H3-3A	OMIM:619720
HP:0001276	Hypertonia	65993	MRPS34	OMIM:617664
HP:0001276	Hypertonia	10300	KATNB1	OMIM:616212
HP:0001276	Hypertonia	51741	WWOX	OMIM:616211
HP:0001276	Hypertonia	51741	WWOX	ORPHA:442835
HP:0001276	Hypertonia	51741	WWOX	OMIM:614322
HP:0001276	Hypertonia	2670	GFAP	OMIM:203450
HP:0001276	Hypertonia	2670	GFAP	ORPHA:363722
HP:0001276	Hypertonia	2670	GFAP	ORPHA:363717
HP:0001276	Hypertonia	10381	TUBB3	OMIM:614039
HP:0001276	Hypertonia	10381	TUBB3	ORPHA:300570
HP:0001276	Hypertonia	57231	SNX14	ORPHA:397709
HP:0001276	Hypertonia	57231	SNX14	OMIM:616354
HP:0001276	Hypertonia	410	ARSA	ORPHA:309271
HP:0001276	Hypertonia	410	ARSA	ORPHA:309263
HP:0001276	Hypertonia	410	ARSA	ORPHA:309256
HP:0001276	Hypertonia	54	ACP5	OMIM:607944
HP:0001276	Hypertonia	54	ACP5	ORPHA:1855
HP:0001276	Hypertonia	288	ANK3	OMIM:615493
HP:0001276	Hypertonia	288	ANK3	ORPHA:356996
HP:0001276	Hypertonia	5832	ALDH18A1	OMIM:616586
HP:0001276	Hypertonia	5832	ALDH18A1	ORPHA:447760
HP:0001276	Hypertonia	215	ABCD1	ORPHA:139399
HP:0001276	Hypertonia	7343	UBTF	OMIM:617672
HP:0001276	Hypertonia	7343	UBTF	ORPHA:500180
HP:0001276	Hypertonia	79029	AFG2B	OMIM:619616
HP:0001276	Hypertonia	64834	ELOVL1	OMIM:618527
HP:0001276	Hypertonia	10111	RAD50	OMIM:613078
HP:0001276	Hypertonia	51308	REEP2	OMIM:620606
HP:0001276	Hypertonia	51308	REEP2	OMIM:615625
HP:0001276	Hypertonia	55681	SCYL2	OMIM:618766
HP:0001276	Hypertonia	8560	DEGS1	OMIM:618404
HP:0001276	Hypertonia	10939	AFG3L2	ORPHA:313772
HP:0001276	Hypertonia	10939	AFG3L2	ORPHA:101109
HP:0001276	Hypertonia	10939	AFG3L2	OMIM:610246
HP:0001276	Hypertonia	10939	AFG3L2	OMIM:614487
HP:0001276	Hypertonia	5191	PEX7	OMIM:215100
HP:0001276	Hypertonia	2697	GJA1	ORPHA:2710
HP:0001276	Hypertonia	2697	GJA1	OMIM:164200
HP:0001276	Hypertonia	84504	NKX6-2	OMIM:617560
HP:0001276	Hypertonia	283987	HID1	OMIM:619983
HP:0001276	Hypertonia	4565	MT-TI	OMIM:545000
HP:0001276	Hypertonia	4571	MT-TP	OMIM:545000
HP:0001276	Hypertonia	4558	MT-TF	OMIM:545000
HP:0001276	Hypertonia	6712	SPTBN2	OMIM:615386
HP:0001276	Hypertonia	6712	SPTBN2	ORPHA:352403
HP:0001276	Hypertonia	83636	C19orf12	OMIM:614298
HP:0001276	Hypertonia	83636	C19orf12	OMIM:615043
HP:0001276	Hypertonia	5833	PCYT2	OMIM:618770
HP:0001276	Hypertonia	388962	BOLA3	OMIM:614299
HP:0001276	Hypertonia	28514	DLL1	ORPHA:93926
HP:0001276	Hypertonia	28514	DLL1	ORPHA:93924
HP:0001276	Hypertonia	28514	DLL1	ORPHA:93925
HP:0001276	Hypertonia	28514	DLL1	ORPHA:220386
HP:0001276	Hypertonia	2253	FGF8	ORPHA:93926
HP:0001276	Hypertonia	2253	FGF8	ORPHA:93924
HP:0001276	Hypertonia	2253	FGF8	ORPHA:93925
HP:0001276	Hypertonia	2253	FGF8	ORPHA:220386
HP:0001276	Hypertonia	6496	SIX3	ORPHA:93926
HP:0001276	Hypertonia	6496	SIX3	ORPHA:93924
HP:0001276	Hypertonia	6496	SIX3	ORPHA:93925
HP:0001276	Hypertonia	6496	SIX3	ORPHA:220386
HP:0001276	Hypertonia	7050	TGIF1	ORPHA:93926
HP:0001276	Hypertonia	7050	TGIF1	ORPHA:93924
HP:0001276	Hypertonia	7050	TGIF1	ORPHA:93925
HP:0001276	Hypertonia	7050	TGIF1	ORPHA:220386
HP:0001276	Hypertonia	4838	NODAL	ORPHA:93926
HP:0001276	Hypertonia	4838	NODAL	ORPHA:93924
HP:0001276	Hypertonia	4838	NODAL	ORPHA:93925
HP:0001276	Hypertonia	4838	NODAL	ORPHA:220386
HP:0001276	Hypertonia	6469	SHH	ORPHA:93926
HP:0001276	Hypertonia	6469	SHH	ORPHA:93924
HP:0001276	Hypertonia	6469	SHH	ORPHA:93925
HP:0001276	Hypertonia	6469	SHH	ORPHA:220386
HP:0001276	Hypertonia	7546	ZIC2	ORPHA:93926
HP:0001276	Hypertonia	7546	ZIC2	ORPHA:93924
HP:0001276	Hypertonia	7546	ZIC2	ORPHA:93925
HP:0001276	Hypertonia	7546	ZIC2	ORPHA:220386
HP:0001276	Hypertonia	6491	STIL	ORPHA:93926
HP:0001276	Hypertonia	6491	STIL	ORPHA:93924
HP:0001276	Hypertonia	6491	STIL	ORPHA:93925
HP:0001276	Hypertonia	6491	STIL	ORPHA:220386
HP:0001276	Hypertonia	2619	GAS1	ORPHA:93926
HP:0001276	Hypertonia	2619	GAS1	ORPHA:93924
HP:0001276	Hypertonia	2619	GAS1	ORPHA:93925
HP:0001276	Hypertonia	2619	GAS1	ORPHA:220386
HP:0001276	Hypertonia	84976	DISP1	ORPHA:93926
HP:0001276	Hypertonia	84976	DISP1	ORPHA:93924
HP:0001276	Hypertonia	84976	DISP1	ORPHA:93925
HP:0001276	Hypertonia	84976	DISP1	ORPHA:220386
HP:0001276	Hypertonia	2736	GLI2	ORPHA:93926
HP:0001276	Hypertonia	2736	GLI2	ORPHA:93924
HP:0001276	Hypertonia	2736	GLI2	ORPHA:93925
HP:0001276	Hypertonia	2736	GLI2	ORPHA:220386
HP:0001276	Hypertonia	8928	FOXH1	ORPHA:93926
HP:0001276	Hypertonia	8928	FOXH1	ORPHA:93924
HP:0001276	Hypertonia	8928	FOXH1	ORPHA:93925
HP:0001276	Hypertonia	8928	FOXH1	ORPHA:220386
HP:0001276	Hypertonia	6997	CRIPTO	ORPHA:93926
HP:0001276	Hypertonia	6997	CRIPTO	ORPHA:93924
HP:0001276	Hypertonia	6997	CRIPTO	ORPHA:93925
HP:0001276	Hypertonia	6997	CRIPTO	ORPHA:220386
HP:0001276	Hypertonia	5727	PTCH1	ORPHA:93926
HP:0001276	Hypertonia	5727	PTCH1	ORPHA:93924
HP:0001276	Hypertonia	5727	PTCH1	ORPHA:93925
HP:0001276	Hypertonia	5727	PTCH1	ORPHA:220386
HP:0001276	Hypertonia	50937	CDON	ORPHA:93926
HP:0001276	Hypertonia	50937	CDON	ORPHA:93924
HP:0001276	Hypertonia	50937	CDON	ORPHA:93925
HP:0001276	Hypertonia	50937	CDON	ORPHA:220386
HP:0001276	Hypertonia	23007	PLCH1	ORPHA:93925
HP:0001276	Hypertonia	10735	STAG2	ORPHA:93925
HP:0001276	Hypertonia	10735	STAG2	ORPHA:220386
HP:0001276	Hypertonia	79731	NARS2	OMIM:616239
HP:0001276	Hypertonia	54832	VPS13C	ORPHA:2828
HP:0001276	Hypertonia	54832	VPS13C	OMIM:616840
HP:0001276	Hypertonia	11315	PARK7	ORPHA:2828
HP:0001276	Hypertonia	7345	UCHL1	ORPHA:2828
HP:0001276	Hypertonia	120892	LRRK2	ORPHA:2828
HP:0001276	Hypertonia	9829	DNAJC6	ORPHA:2828
HP:0001276	Hypertonia	9829	DNAJC6	OMIM:615528
HP:0001276	Hypertonia	6622	SNCA	ORPHA:2828
HP:0001276	Hypertonia	6622	SNCA	ORPHA:171695
HP:0001276	Hypertonia	5420	PODXL	ORPHA:2828
HP:0001276	Hypertonia	65018	PINK1	ORPHA:2828
HP:0001276	Hypertonia	8867	SYNJ1	ORPHA:2828
HP:0001276	Hypertonia	8867	SYNJ1	ORPHA:442835
HP:0001276	Hypertonia	5071	PRKN	ORPHA:2828
HP:0001276	Hypertonia	3737	KCNA2	ORPHA:442835
HP:0001276	Hypertonia	1759	DNM1	ORPHA:442835
HP:0001276	Hypertonia	8120	AP3B2	ORPHA:442835
HP:0001276	Hypertonia	523	ATP6V1A	ORPHA:442835
HP:0001276	Hypertonia	523	ATP6V1A	ORPHA:357074
HP:0001276	Hypertonia	10991	SLC38A3	ORPHA:442835
HP:0001276	Hypertonia	51343	FZR1	ORPHA:442835
HP:0001276	Hypertonia	51343	FZR1	OMIM:620145
HP:0001276	Hypertonia	3747	KCNC2	ORPHA:442835
HP:0001276	Hypertonia	1917	EEF1A2	ORPHA:442835
HP:0001276	Hypertonia	23219	FBXO28	ORPHA:442835
HP:0001276	Hypertonia	2561	GABRB2	ORPHA:442835
HP:0001276	Hypertonia	2561	GABRB2	OMIM:617829
HP:0001276	Hypertonia	8831	SYNGAP1	ORPHA:442835
HP:0001276	Hypertonia	2558	GABRA5	ORPHA:442835
HP:0001276	Hypertonia	2558	GABRA5	OMIM:618559
HP:0001276	Hypertonia	2906	GRIN2D	ORPHA:442835
HP:0001276	Hypertonia	116150	NUS1	ORPHA:442835
HP:0001276	Hypertonia	1213	CLTC	ORPHA:442835
HP:0001276	Hypertonia	1213	CLTC	OMIM:617854
HP:0001276	Hypertonia	23334	SZT2	ORPHA:442835
HP:0001276	Hypertonia	348980	HCN1	ORPHA:442835
HP:0001276	Hypertonia	25977	NECAP1	ORPHA:442835
HP:0001276	Hypertonia	23241	PACS2	ORPHA:442835
HP:0001276	Hypertonia	9568	GABBR2	ORPHA:442835
HP:0001276	Hypertonia	9568	GABBR2	ORPHA:3095
HP:0001276	Hypertonia	2555	GABRA2	ORPHA:442835
HP:0001276	Hypertonia	2555	GABRA2	OMIM:618557
HP:0001276	Hypertonia	55152	DALRD3	ORPHA:442835
HP:0001276	Hypertonia	26999	CYFIP2	ORPHA:442835
HP:0001276	Hypertonia	26999	CYFIP2	OMIM:618008
HP:0001276	Hypertonia	4915	NTRK2	ORPHA:442835
HP:0001276	Hypertonia	25973	PARS2	ORPHA:442835
HP:0001276	Hypertonia	25973	PARS2	OMIM:618437
HP:0001276	Hypertonia	2257	FGF12	ORPHA:442835
HP:0001276	Hypertonia	5530	PPP3CA	ORPHA:442835
HP:0001276	Hypertonia	5530	PPP3CA	OMIM:617711
HP:0001276	Hypertonia	478	ATP1A3	ORPHA:442835
HP:0001276	Hypertonia	22906	TRAK1	ORPHA:442835
HP:0001276	Hypertonia	22906	TRAK1	OMIM:618201
HP:0001276	Hypertonia	2566	GABRG2	ORPHA:442835
HP:0001276	Hypertonia	7532	YWHAG	ORPHA:442835
HP:0001276	Hypertonia	79876	UBA5	ORPHA:442835
HP:0001276	Hypertonia	79876	UBA5	OMIM:617132
HP:0001276	Hypertonia	6328	SCN3A	ORPHA:442835
HP:0001276	Hypertonia	781	CACNA2D1	ORPHA:442835
HP:0001276	Hypertonia	781	CACNA2D1	OMIM:620149
HP:0001276	Hypertonia	10659	CELF2	ORPHA:442835
HP:0001276	Hypertonia	774	CACNA1B	ORPHA:442835
HP:0001276	Hypertonia	51412	ACTL6B	ORPHA:442835
HP:0001276	Hypertonia	2290	FOXG1	ORPHA:442835
HP:0001276	Hypertonia	2290	FOXG1	OMIM:613454
HP:0001276	Hypertonia	6506	SLC1A2	ORPHA:442835
HP:0001276	Hypertonia	6506	SLC1A2	OMIM:617105
HP:0001276	Hypertonia	477	ATP1A2	ORPHA:442835
HP:0001276	Hypertonia	3745	KCNB1	ORPHA:442835
HP:0001276	Hypertonia	284111	SLC13A5	ORPHA:442835
HP:0001276	Hypertonia	284111	SLC13A5	ORPHA:1946
HP:0001276	Hypertonia	284111	SLC13A5	OMIM:615905
HP:0001276	Hypertonia	22866	CNKSR2	ORPHA:442835
HP:0001276	Hypertonia	79947	DHDDS	ORPHA:442835
HP:0001276	Hypertonia	79947	DHDDS	OMIM:613861
HP:0001276	Hypertonia	6905	TBCE	OMIM:617207
HP:0001276	Hypertonia	55361	PI4K2A	OMIM:620732
HP:0001276	Hypertonia	26834	RNU4-2	OMIM:620851
HP:0001276	Hypertonia	1499	CTNNB1	ORPHA:404473
HP:0001276	Hypertonia	1499	CTNNB1	OMIM:615075
HP:0001276	Hypertonia	5654	HTRA1	ORPHA:199354
HP:0001276	Hypertonia	5654	HTRA1	OMIM:600142
HP:0001276	Hypertonia	92482	BBIP1	ORPHA:110
HP:0001276	Hypertonia	80184	CEP290	ORPHA:110
HP:0001276	Hypertonia	11020	IFT27	ORPHA:110
HP:0001276	Hypertonia	582	BBS1	ORPHA:110
HP:0001276	Hypertonia	49855	SCAPER	ORPHA:110
HP:0001276	Hypertonia	4867	NPHP1	ORPHA:110
HP:0001276	Hypertonia	51057	WDPCP	ORPHA:110
HP:0001276	Hypertonia	132320	SCLT1	ORPHA:110
HP:0001276	Hypertonia	27241	BBS9	ORPHA:110
HP:0001276	Hypertonia	84984	CEP19	ORPHA:110
HP:0001276	Hypertonia	22954	TRIM32	ORPHA:110
HP:0001276	Hypertonia	54903	MKS1	ORPHA:110
HP:0001276	Hypertonia	79738	BBS10	ORPHA:110
HP:0001276	Hypertonia	123016	TTC8	ORPHA:110
HP:0001276	Hypertonia	26160	IFT172	ORPHA:110
HP:0001276	Hypertonia	583	BBS2	ORPHA:110
HP:0001276	Hypertonia	585	BBS4	ORPHA:110
HP:0001276	Hypertonia	8195	MKKS	ORPHA:110
HP:0001276	Hypertonia	54585	LZTFL1	ORPHA:110
HP:0001276	Hypertonia	55212	BBS7	ORPHA:110
HP:0001276	Hypertonia	166379	BBS12	ORPHA:110
HP:0001276	Hypertonia	10806	SDCCAG8	ORPHA:110
HP:0001276	Hypertonia	157657	CFAP418	ORPHA:110
HP:0001276	Hypertonia	84100	ARL6	ORPHA:110
HP:0001276	Hypertonia	129880	BBS5	ORPHA:110
HP:0001276	Hypertonia	80173	IFT74	ORPHA:110
HP:0001276	Hypertonia	2911	GRM1	OMIM:617691
HP:0001276	Hypertonia	29081	METTL5	OMIM:618665
HP:0001276	Hypertonia	55773	TBC1D23	OMIM:617695
HP:0001276	Hypertonia	1182	CLCN3	OMIM:619517
HP:0001276	Hypertonia	391356	PTRHD1	OMIM:620747
HP:0001276	Hypertonia	51692	CPSF3	OMIM:619876
HP:0001276	Hypertonia	2517	FUCA1	ORPHA:349
HP:0001276	Hypertonia	285362	SUMF1	OMIM:272200
HP:0001276	Hypertonia	8517	IKBKG	ORPHA:464
HP:0001276	Hypertonia	8517	IKBKG	OMIM:308300
HP:0001276	Hypertonia	10908	PNPLA6	OMIM:215470
HP:0001276	Hypertonia	55210	ATAD3A	ORPHA:496790
HP:0001276	Hypertonia	55210	ATAD3A	OMIM:617183
HP:0001276	Hypertonia	55210	ATAD3A	OMIM:618810
HP:0001276	Hypertonia	9533	POLR1C	OMIM:616494
HP:0001276	Hypertonia	54828	BCAS3	OMIM:619641
HP:0001276	Hypertonia	79991	STN1	OMIM:617341
HP:0001276	Hypertonia	9276	COPB2	OMIM:619884
HP:0001276	Hypertonia	9276	COPB2	OMIM:617800
HP:0001276	Hypertonia	122961	ISCA2	OMIM:616370
HP:0001276	Hypertonia	8733	GPAA1	ORPHA:529665
HP:0001276	Hypertonia	8733	GPAA1	OMIM:617810
HP:0001276	Hypertonia	27086	FOXP1	ORPHA:391372
HP:0001276	Hypertonia	253959	RALGAPA1	OMIM:618797
HP:0001276	Hypertonia	11041	B4GAT1	OMIM:615287
HP:0001276	Hypertonia	7358	UGDH	OMIM:618792
HP:0001276	Hypertonia	113179	ADAT3	OMIM:615286
HP:0001276	Hypertonia	113179	ADAT3	ORPHA:363528
HP:0001276	Hypertonia	6942	TCF20	OMIM:618430
HP:0001276	Hypertonia	56947	MFF	ORPHA:485421
HP:0001276	Hypertonia	56947	MFF	OMIM:617086
HP:0001276	Hypertonia	2904	GRIN2B	OMIM:616139
HP:0001276	Hypertonia	2904	GRIN2B	OMIM:613970
HP:0001276	Hypertonia	6621	SNAPC4	OMIM:620515
HP:0001276	Hypertonia	146227	BEAN1	ORPHA:217012
HP:0001276	Hypertonia	11261	CHP1	OMIM:618438
HP:0001276	Hypertonia	9968	MED12	OMIM:305450
HP:0001276	Hypertonia	38	ACAT1	ORPHA:134
HP:0001276	Hypertonia	4854	NOTCH3	ORPHA:136
HP:0001276	Hypertonia	23556	PIGN	OMIM:614080
HP:0001276	Hypertonia	1436	CSF1R	OMIM:221820
HP:0001276	Hypertonia	1436	CSF1R	OMIM:618476
HP:0001276	Hypertonia	7143	TNR	OMIM:619653
HP:0001276	Hypertonia	23162	MAPK8IP3	OMIM:618443
HP:0001276	Hypertonia	6324	SCN1B	OMIM:617350
HP:0001276	Hypertonia	6324	SCN1B	ORPHA:1934
HP:0001276	Hypertonia	79989	IFT56	OMIM:619534
HP:0001276	Hypertonia	125988	MICOS13	OMIM:618329
HP:0001276	Hypertonia	23499	MACF1	OMIM:618325
HP:0001276	Hypertonia	23499	MACF1	ORPHA:572013
HP:0001276	Hypertonia	374969	SVBP	OMIM:618569
HP:0001276	Hypertonia	4733	DRG1	OMIM:620641
HP:0001276	Hypertonia	79641	ROGDI	ORPHA:1946
HP:0001276	Hypertonia	79641	ROGDI	OMIM:226750
HP:0001276	Hypertonia	8813	DPM1	ORPHA:79322
HP:0001276	Hypertonia	1967	EIF2B1	OMIM:603896
HP:0001276	Hypertonia	3897	L1CAM	OMIM:304100
HP:0001276	Hypertonia	3897	L1CAM	OMIM:307000
HP:0001276	Hypertonia	3897	L1CAM	ORPHA:2182
HP:0001276	Hypertonia	3897	L1CAM	ORPHA:1497
HP:0001276	Hypertonia	9896	FIG4	ORPHA:208441
HP:0001276	Hypertonia	9896	FIG4	ORPHA:803
HP:0001276	Hypertonia	6812	STXBP1	ORPHA:599373
HP:0001276	Hypertonia	7040	TGFB1	OMIM:618213
HP:0001276	Hypertonia	205327	C2orf69	OMIM:619423
HP:0001276	Hypertonia	1892	ECHS1	OMIM:616277
HP:0001276	Hypertonia	133686	NADK2	OMIM:616034
HP:0001276	Hypertonia	84188	FAR1	OMIM:616154
HP:0001276	Hypertonia	120	ADD3	OMIM:617008
HP:0001276	Hypertonia	164	AP1G1	OMIM:619548
HP:0001276	Hypertonia	164	AP1G1	OMIM:619467
HP:0001276	Hypertonia	835	CASP2	OMIM:620653
HP:0001276	Hypertonia	8905	AP1S2	OMIM:304340
HP:0001276	Hypertonia	78987	CRELD1	OMIM:620771
HP:0001276	Hypertonia	6792	CDKL5	ORPHA:1934
HP:0001276	Hypertonia	6792	CDKL5	ORPHA:3095
HP:0001276	Hypertonia	9091	PIGQ	ORPHA:1934
HP:0001276	Hypertonia	140679	SLC32A1	ORPHA:1934
HP:0001276	Hypertonia	2775	GNAO1	ORPHA:1934
HP:0001276	Hypertonia	2775	GNAO1	OMIM:617493
HP:0001276	Hypertonia	81603	TRIM8	ORPHA:1934
HP:0001276	Hypertonia	2902	GRIN1	ORPHA:1934
HP:0001276	Hypertonia	2902	GRIN1	ORPHA:208447
HP:0001276	Hypertonia	2902	GRIN1	OMIM:617820
HP:0001276	Hypertonia	2902	GRIN1	OMIM:614254
HP:0001276	Hypertonia	150094	SIK1	ORPHA:1934
HP:0001276	Hypertonia	23312	DMXL2	ORPHA:1934
HP:0001276	Hypertonia	2917	GRM7	ORPHA:1934
HP:0001276	Hypertonia	11284	PNKP	ORPHA:1934
HP:0001276	Hypertonia	51227	PIGP	ORPHA:1934
HP:0001276	Hypertonia	4761	NEUROD2	ORPHA:1934
HP:0001276	Hypertonia	3155	HMGCL	ORPHA:20
HP:0001276	Hypertonia	3155	HMGCL	OMIM:246450
HP:0001276	Hypertonia	4723	NDUFV1	OMIM:618225
HP:0001276	Hypertonia	23516	SLC39A14	OMIM:617013
HP:0001276	Hypertonia	23516	SLC39A14	ORPHA:521406
HP:0001276	Hypertonia	23345	SYNE1	ORPHA:88644
HP:0001276	Hypertonia	23345	SYNE1	OMIM:610743
HP:0001276	Hypertonia	2495	FTH1	OMIM:620669
HP:0001276	Hypertonia	83548	COG3	OMIM:620546
HP:0001276	Hypertonia	4729	NDUFV2	OMIM:618229
HP:0001276	Hypertonia	253738	EBF3	ORPHA:96148
HP:0001276	Hypertonia	84320	ACBD6	OMIM:620785
HP:0001276	Hypertonia	6709	SPTAN1	OMIM:620540
HP:0001276	Hypertonia	128869	PIGU	OMIM:618590
HP:0001276	Hypertonia	22854	NTNG1	ORPHA:3095
HP:0001276	Hypertonia	4204	MECP2	ORPHA:3095
HP:0001276	Hypertonia	4204	MECP2	OMIM:312750
HP:0001276	Hypertonia	4204	MECP2	ORPHA:209370
HP:0001276	Hypertonia	4695	NDUFA2	OMIM:618235
HP:0001276	Hypertonia	6651	SON	OMIM:617140
HP:0001276	Hypertonia	6651	SON	ORPHA:500150
HP:0001276	Hypertonia	7453	WARS1	OMIM:620317
HP:0001276	Hypertonia	112939	NACC1	ORPHA:500545
HP:0001276	Hypertonia	112939	NACC1	OMIM:617393
HP:0001276	Hypertonia	1654	DDX3X	ORPHA:457260
HP:0001276	Hypertonia	1654	DDX3X	OMIM:300958
HP:0001276	Hypertonia	79133	NDUFAF5	OMIM:618238
HP:0001276	Hypertonia	6833	ABCC8	OMIM:240800
HP:0001276	Hypertonia	8890	EIF2B4	OMIM:620314
HP:0001276	Hypertonia	8892	EIF2B2	OMIM:620312
HP:0001276	Hypertonia	443	ASPA	ORPHA:314911
HP:0001276	Hypertonia	387119	CEP85L	ORPHA:572013
HP:0001276	Hypertonia	10166	SLC25A15	OMIM:238970
HP:0001276	Hypertonia	6904	TBCD	ORPHA:496641
HP:0001276	Hypertonia	10059	DNM1L	ORPHA:98673
HP:0001276	Hypertonia	1725	DHPS	OMIM:618480
HP:0001276	Hypertonia	427	ASAH1	ORPHA:333
HP:0001276	Hypertonia	56915	EXOSC5	OMIM:619576
HP:0001276	Hypertonia	51132	RLIM	OMIM:300978
HP:0001276	Hypertonia	4125	MAN2B1	OMIM:248500
HP:0001276	Hypertonia	92255	LMBRD2	OMIM:619694
HP:0001276	Hypertonia	80224	NUBPL	OMIM:618242
HP:0001276	Hypertonia	54834	GDAP2	OMIM:618369
HP:0001276	Hypertonia	51704	GPRC5B	OMIM:620447
HP:0001276	Hypertonia	361	AQP4	OMIM:620448
HP:0001276	Hypertonia	3376	IARS1	ORPHA:541423
HP:0001276	Hypertonia	3376	IARS1	OMIM:617093
HP:0001276	Hypertonia	29920	PYCR2	ORPHA:481152
HP:0001276	Hypertonia	29920	PYCR2	OMIM:616420
HP:0001276	Hypertonia	10092	ARPC5	OMIM:620565
HP:0001276	Hypertonia	4141	MARS1	OMIM:620323
HP:0001276	Hypertonia	23203	PMPCA	OMIM:213200
HP:0001276	Hypertonia	23203	PMPCA	ORPHA:1170
HP:0001276	Hypertonia	549	AUH	OMIM:250950
HP:0001276	Hypertonia	4864	NPC1	OMIM:257220
HP:0001276	Hypertonia	8604	SLC25A12	OMIM:612949
HP:0001276	Hypertonia	2632	GBE1	ORPHA:206583
HP:0001276	Hypertonia	1781	DYNC1I2	OMIM:618492
HP:0001276	Hypertonia	112812	FDX2	OMIM:251900
HP:0001276	Hypertonia	51102	MECR	OMIM:617282
HP:0001276	Hypertonia	51102	MECR	ORPHA:508093
HP:0001276	Hypertonia	23111	SPART	ORPHA:101000
HP:0001276	Hypertonia	23258	DENND5A	OMIM:617281
HP:0001276	Hypertonia	27316	RBMX	OMIM:309555
HP:0001276	Hypertonia	6390	SDHB	OMIM:619224
HP:0001276	Hypertonia	6390	SDHB	ORPHA:3208
HP:0001276	Hypertonia	2009	EML1	OMIM:600348
HP:0001276	Hypertonia	9757	KMT2B	OMIM:617284
HP:0001276	Hypertonia	9758	FRMPD4	OMIM:300983
HP:0001276	Hypertonia	4700	NDUFA6	OMIM:618253
HP:0001276	Hypertonia	8635	RNASET2	OMIM:612951
HP:0001276	Hypertonia	6304	SATB1	OMIM:619228
HP:0001276	Hypertonia	6304	SATB1	OMIM:619229
HP:0001276	Hypertonia	4548	MTR	OMIM:250940
HP:0001276	Hypertonia	6874	TAF4	OMIM:620450
HP:0001276	Hypertonia	6697	SPR	OMIM:612716
HP:0001276	Hypertonia	3251	HPRT1	ORPHA:510
HP:0001276	Hypertonia	3251	HPRT1	OMIM:300322
HP:0001276	Hypertonia	57187	THOC2	OMIM:300957
HP:0001276	Hypertonia	27107	ZBTB11	OMIM:618383
HP:0001276	Hypertonia	92935	MARS2	ORPHA:314603
HP:0001276	Hypertonia	92935	MARS2	OMIM:611390
HP:0001276	Hypertonia	378884	NHLRC1	ORPHA:501
HP:0001276	Hypertonia	7957	EPM2A	ORPHA:501
HP:0001276	Hypertonia	6872	TAF1	OMIM:300966
HP:0001276	Hypertonia	90522	YIF1B	OMIM:619125
HP:0001276	Hypertonia	60558	GUF1	OMIM:617065
HP:0001276	Hypertonia	84340	GFM2	OMIM:618397
HP:0001276	Hypertonia	23287	AGTPBP1	OMIM:618276
HP:0001276	Hypertonia	23287	AGTPBP1	ORPHA:2254
HP:0001276	Hypertonia	57038	RARS2	OMIM:611523
HP:0001276	Hypertonia	7284	TUFM	OMIM:610678
HP:0001276	Hypertonia	26278	SACS	OMIM:270550
HP:0001276	Hypertonia	26278	SACS	ORPHA:98
HP:0001276	Hypertonia	55670	PEX26	ORPHA:772
HP:0001276	Hypertonia	5824	PEX19	ORPHA:772
HP:0001276	Hypertonia	5828	PEX2	ORPHA:772
HP:0001276	Hypertonia	8504	PEX3	ORPHA:772
HP:0001276	Hypertonia	5190	PEX6	ORPHA:772
HP:0001276	Hypertonia	5830	PEX5	ORPHA:772
HP:0001276	Hypertonia	5189	PEX1	ORPHA:772
HP:0001276	Hypertonia	5193	PEX12	ORPHA:772
HP:0001276	Hypertonia	5194	PEX13	ORPHA:772
HP:0001276	Hypertonia	5195	PEX14	ORPHA:772
HP:0001276	Hypertonia	5192	PEX10	ORPHA:772
HP:0001276	Hypertonia	8242	KDM5C	ORPHA:85279
HP:0001276	Hypertonia	8242	KDM5C	OMIM:300534
HP:0001276	Hypertonia	1315	COPB1	OMIM:619255
HP:0001276	Hypertonia	4668	NAGA	OMIM:609241
HP:0001276	Hypertonia	4668	NAGA	ORPHA:79279
HP:0001276	Hypertonia	727676	SNORD118	ORPHA:542310
HP:0001276	Hypertonia	727676	SNORD118	OMIM:614561
HP:0001276	Hypertonia	283	ANG	OMIM:611895
HP:0001276	Hypertonia	283	ANG	ORPHA:803
HP:0001276	Hypertonia	7415	VCP	OMIM:613954
HP:0001276	Hypertonia	7415	VCP	ORPHA:803
HP:0001276	Hypertonia	5216	PFN1	OMIM:614808
HP:0001276	Hypertonia	5216	PFN1	ORPHA:803
HP:0001276	Hypertonia	8139	GAN	ORPHA:643
HP:0001276	Hypertonia	224	ALDH3A2	OMIM:270200
HP:0001276	Hypertonia	224	ALDH3A2	ORPHA:816
HP:0001276	Hypertonia	56922	MCCC1	ORPHA:6
HP:0001276	Hypertonia	64087	MCCC2	ORPHA:6
HP:0001276	Hypertonia	91574	MTRFR	ORPHA:320375
HP:0001276	Hypertonia	27445	PCLO	OMIM:608027
HP:0001276	Hypertonia	50640	PNPLA8	OMIM:251950
HP:0001276	Hypertonia	90952	ESAM	OMIM:620371
HP:0001276	Hypertonia	27183	VPS4A	OMIM:619273
HP:0001276	Hypertonia	10128	LRPPRC	OMIM:220111
HP:0001276	Hypertonia	10128	LRPPRC	ORPHA:70472
HP:0001276	Hypertonia	2643	GCH1	OMIM:128230
HP:0001276	Hypertonia	158	ADSL	OMIM:103050
HP:0001276	Hypertonia	375	ARF1	OMIM:618185
HP:0001276	Hypertonia	8506	CNTNAP1	OMIM:618186
HP:0001276	Hypertonia	5393	EXOSC9	OMIM:618065
HP:0001276	Hypertonia	5393	EXOSC9	ORPHA:2254
HP:0001276	Hypertonia	83700	JAM3	OMIM:613730
HP:0001276	Hypertonia	1593	CYP27A1	OMIM:213700
HP:0001276	Hypertonia	1593	CYP27A1	ORPHA:909
HP:0001276	Hypertonia	25821	MTO1	OMIM:614702
HP:0001276	Hypertonia	132158	GLYCTK	ORPHA:941
HP:0001276	Hypertonia	132158	GLYCTK	OMIM:220120
HP:0001276	Hypertonia	4758	NEU1	ORPHA:93399
HP:0001276	Hypertonia	4758	NEU1	ORPHA:93400
HP:0001276	Hypertonia	4983	OPHN1	OMIM:300486
HP:0001276	Hypertonia	51112	TRAPPC12	ORPHA:500144
HP:0001276	Hypertonia	51506	UFC1	OMIM:618076
HP:0001276	Hypertonia	9442	MED27	OMIM:619286
HP:0001276	Hypertonia	6311	ATXN2	OMIM:183090
HP:0001276	Hypertonia	6311	ATXN2	ORPHA:803
HP:0001276	Hypertonia	9640	ZNF592	ORPHA:83472
HP:0001276	Hypertonia	23431	AP4E1	OMIM:613744
HP:0001276	Hypertonia	23431	AP4E1	ORPHA:280763
HP:0001276	Hypertonia	9915	ARNT2	OMIM:615926
HP:0001276	Hypertonia	26580	BSCL2	OMIM:615924
HP:0001276	Hypertonia	26580	BSCL2	ORPHA:363400
HP:0001276	Hypertonia	150468	CKAP2L	ORPHA:3255
HP:0001276	Hypertonia	4718	NDUFC2	OMIM:619170
HP:0001276	Hypertonia	1738	DLD	ORPHA:2394
HP:0001276	Hypertonia	1351	COX8A	OMIM:619059
HP:0001276	Hypertonia	8913	CACNA1G	OMIM:618087
HP:0001276	Hypertonia	64207	IRF2BPL	OMIM:618088
HP:0001276	Hypertonia	1509	CTSD	OMIM:610127
HP:0001276	Hypertonia	23325	WASHC4	OMIM:615817
HP:0001276	Hypertonia	7276	TTR	OMIM:105210
HP:0001276	Hypertonia	1678	TIMM8A	OMIM:304700
HP:0001276	Hypertonia	815	CAMK2A	OMIM:618095
HP:0001276	Hypertonia	57531	HACE1	ORPHA:464282
HP:0001276	Hypertonia	9839	ZEB2	ORPHA:261552
HP:0001276	Hypertonia	9839	ZEB2	ORPHA:261537
HP:0001276	Hypertonia	64919	BCL11B	OMIM:618092
HP:0001276	Hypertonia	26090	ABHD12	OMIM:612674
HP:0001276	Hypertonia	10382	TUBB4A	OMIM:612438
HP:0001276	Hypertonia	84947	SERAC1	OMIM:614739
HP:0001276	Hypertonia	2395	FXN	ORPHA:95
HP:0001276	Hypertonia	2512	FTL	OMIM:606159
HP:0001276	Hypertonia	7025	NR2F1	ORPHA:401777
HP:0001276	Hypertonia	7025	NR2F1	OMIM:615722
HP:0001276	Hypertonia	3028	HSD17B10	OMIM:300438
HP:0001276	Hypertonia	6804	STX1A	ORPHA:904
HP:0001276	Hypertonia	7461	CLIP2	ORPHA:904
HP:0001276	Hypertonia	84277	DNAJC30	ORPHA:904
HP:0001276	Hypertonia	8468	FKBP6	ORPHA:904
HP:0001276	Hypertonia	5982	RFC2	ORPHA:904
HP:0001276	Hypertonia	2969	GTF2I	ORPHA:904
HP:0001276	Hypertonia	3984	LIMK1	ORPHA:904
HP:0001276	Hypertonia	9569	GTF2IRD1	ORPHA:904
HP:0001276	Hypertonia	155382	VPS37D	ORPHA:904
HP:0001276	Hypertonia	155368	METTL27	ORPHA:904
HP:0001276	Hypertonia	114049	BUD23	ORPHA:904
HP:0001276	Hypertonia	7458	EIF4H	ORPHA:904
HP:0001276	Hypertonia	84163	GTF2IRD2	ORPHA:904
HP:0001276	Hypertonia	26608	TBL2	ORPHA:904
HP:0001276	Hypertonia	653361	NCF1	ORPHA:904
HP:0001276	Hypertonia	135886	TMEM270	ORPHA:904
HP:0001276	Hypertonia	9031	BAZ1B	ORPHA:904
HP:0001276	Hypertonia	2006	ELN	ORPHA:904
HP:0001276	Hypertonia	11340	EXOSC8	ORPHA:2254
HP:0001276	Hypertonia	51010	EXOSC3	ORPHA:2254
HP:0001276	Hypertonia	51010	EXOSC3	OMIM:614678
HP:0001276	Hypertonia	7443	VRK1	ORPHA:2254
HP:0001276	Hypertonia	90624	LYRM7	OMIM:615838
HP:0001276	Hypertonia	1282	COL4A1	OMIM:175780
HP:0001276	Hypertonia	27286	SRPX2	ORPHA:98889
HP:0001276	Hypertonia	9990	SLC12A6	OMIM:620068
HP:0001276	Hypertonia	80025	PANK2	OMIM:234200
HP:0001276	Hypertonia	80025	PANK2	ORPHA:216873
HP:0001276	Hypertonia	80025	PANK2	ORPHA:216866
HP:0001276	Hypertonia	6609	SMPD1	OMIM:257200
HP:0001276	Hypertonia	724066	ATXN8	ORPHA:98760
HP:0001276	Hypertonia	724066	ATXN8	OMIM:608768
HP:0001276	Hypertonia	6315	ATXN8OS	ORPHA:98760
HP:0001276	Hypertonia	6315	ATXN8OS	OMIM:608768
HP:0001276	Hypertonia	56623	INPP5E	OMIM:610156
HP:0001276	Hypertonia	25828	TXN2	OMIM:616811
HP:0001276	Hypertonia	84919	PPP1R15B	OMIM:616817
HP:0001276	Hypertonia	6908	TBP	ORPHA:98759
HP:0001276	Hypertonia	23204	ARL6IP1	ORPHA:401780
HP:0001276	Hypertonia	23204	ARL6IP1	OMIM:615685
HP:0001276	Hypertonia	7846	TUBA1A	ORPHA:171680
HP:0001276	Hypertonia	26047	CNTNAP2	OMIM:610042
HP:0001276	Hypertonia	6389	SDHA	ORPHA:3208
HP:0001276	Hypertonia	6389	SDHA	OMIM:252011
HP:0001276	Hypertonia	6392	SDHD	ORPHA:3208
HP:0001276	Hypertonia	644096	SDHAF1	ORPHA:3208
HP:0001276	Hypertonia	50628	GEMIN4	OMIM:617913
HP:0001276	Hypertonia	3954	LETM1	OMIM:620089
HP:0001276	Hypertonia	25978	CHMP2B	ORPHA:803
HP:0001276	Hypertonia	3178	HNRNPA1	ORPHA:803
HP:0001276	Hypertonia	8148	TAF15	ORPHA:803
HP:0001276	Hypertonia	5445	PON2	ORPHA:803
HP:0001276	Hypertonia	9217	VAPB	ORPHA:803
HP:0001276	Hypertonia	8878	SQSTM1	ORPHA:803
HP:0001276	Hypertonia	5630	PRPH	ORPHA:803
HP:0001276	Hypertonia	5630	PRPH	OMIM:105400
HP:0001276	Hypertonia	29110	TBK1	ORPHA:803
HP:0001276	Hypertonia	55830	GLT8D1	ORPHA:803
HP:0001276	Hypertonia	755	CFAP410	ORPHA:803
HP:0001276	Hypertonia	10891	PPARGC1A	ORPHA:803
HP:0001276	Hypertonia	10133	OPTN	ORPHA:803
HP:0001276	Hypertonia	1639	DCTN1	ORPHA:803
HP:0001276	Hypertonia	1639	DCTN1	OMIM:105400
HP:0001276	Hypertonia	5444	PON1	ORPHA:803
HP:0001276	Hypertonia	5446	PON3	ORPHA:803
HP:0001276	Hypertonia	4744	NEFH	ORPHA:803
HP:0001276	Hypertonia	4744	NEFH	OMIM:105400
HP:0001276	Hypertonia	9782	MATR3	ORPHA:803
HP:0001276	Hypertonia	23435	TARDBP	ORPHA:803
HP:0001276	Hypertonia	23435	TARDBP	OMIM:612069
HP:0001276	Hypertonia	29978	UBQLN2	ORPHA:803
HP:0001276	Hypertonia	2733	GLE1	ORPHA:803
HP:0001276	Hypertonia	1610	DAO	ORPHA:803
HP:0001276	Hypertonia	2066	ERBB4	ORPHA:803
HP:0001276	Hypertonia	311	ANXA11	ORPHA:803
HP:0001276	Hypertonia	23025	UNC13A	ORPHA:803
HP:0001276	Hypertonia	899	CCNF	ORPHA:803
HP:0001276	Hypertonia	400916	CHCHD10	ORPHA:803
HP:0001276	Hypertonia	84978	FRMD5	OMIM:620094
HP:0001276	Hypertonia	6567	SLC16A2	ORPHA:59
HP:0001276	Hypertonia	23503	ZFYVE26	ORPHA:100996
HP:0001276	Hypertonia	25793	FBXO7	ORPHA:171695
HP:0001276	Hypertonia	80207	OPA3	OMIM:258501
HP:0001276	Hypertonia	57410	SCYL1	OMIM:616719
HP:0001276	Hypertonia	57410	SCYL1	ORPHA:466794
HP:0001276	Hypertonia	9230	RAB11B	OMIM:617807
HP:0001276	Hypertonia	6310	ATXN1	OMIM:164400
HP:0001276	Hypertonia	7507	XPA	ORPHA:910
HP:0001276	Hypertonia	7507	XPA	OMIM:278700
HP:0001276	Hypertonia	7508	XPC	ORPHA:910
HP:0001276	Hypertonia	1643	DDB2	ORPHA:910
HP:0001276	Hypertonia	2072	ERCC4	ORPHA:910
HP:0001276	Hypertonia	2072	ERCC4	ORPHA:220295
HP:0001276	Hypertonia	55906	ZC4H2	OMIM:301041
HP:0001276	Hypertonia	55906	ZC4H2	OMIM:314580
HP:0001276	Hypertonia	6683	SPAST	ORPHA:100985
HP:0001276	Hypertonia	7167	TPI1	OMIM:615512
HP:0001276	Hypertonia	9698	PUM1	OMIM:617931
HP:0001276	Hypertonia	29926	GMPPA	OMIM:615510
HP:0001276	Hypertonia	57704	GBA2	ORPHA:352641
HP:0001276	Hypertonia	53616	ADAM22	OMIM:617933
HP:0001276	Hypertonia	23600	AMACR	OMIM:614307
HP:0001276	Hypertonia	546	ATRX	OMIM:301040
HP:0001276	Hypertonia	91147	TMEM67	OMIM:216360
HP:0001276	Hypertonia	55187	VPS13D	OMIM:607317
HP:0001276	Hypertonia	3748	KCNC3	OMIM:605259
HP:0001276	Hypertonia	4953	ODC1	ORPHA:544488
HP:0001276	Hypertonia	57505	AARS2	OMIM:615889
HP:0001276	Hypertonia	10273	STUB1	OMIM:615768
HP:0001276	Hypertonia	79644	SRD5A3	OMIM:612379
HP:0001276	Hypertonia	91869	RFT1	OMIM:612015
HP:0001276	Hypertonia	2891	GRIA2	OMIM:618917
HP:0001276	Hypertonia	6314	ATXN7	OMIM:164500
HP:0001276	Hypertonia	10342	TFG	ORPHA:431329
HP:0001276	Hypertonia	23732	FRRS1L	OMIM:616981
HP:0001276	Hypertonia	9512	PMPCB	OMIM:617954
HP:0001276	Hypertonia	2058	EPRS1	OMIM:617951
HP:0001276	Hypertonia	54463	RETREG1	OMIM:613115
HP:0001276	Hypertonia	80746	TSEN2	OMIM:612389
HP:0001276	Hypertonia	80746	TSEN2	ORPHA:2524
HP:0001276	Hypertonia	100506658	OCLN	ORPHA:1229
HP:0001276	Hypertonia	100506658	OCLN	OMIM:251290
HP:0001276	Hypertonia	84693	MCEE	OMIM:251120
HP:0001276	Hypertonia	5422	POLA1	OMIM:301030
HP:0001276	Hypertonia	1641	DCX	OMIM:300067
HP:0001276	Hypertonia	6687	SPG7	ORPHA:35689
HP:0001276	Hypertonia	175	AGA	OMIM:208400
HP:0001276	Hypertonia	27010	TPK1	OMIM:614458
HP:0001276	Hypertonia	953	ENTPD1	ORPHA:401810
HP:0001276	Hypertonia	953	ENTPD1	OMIM:615683
HP:0001276	Hypertonia	56978	PRDM8	OMIM:616640
HP:0001276	Hypertonia	81689	ISCA1	OMIM:617613
HP:0001276	Hypertonia	22948	CCT5	ORPHA:139578
HP:0001276	Hypertonia	56270	WDR45B	OMIM:617977
HP:0001276	Hypertonia	7305	TYROBP	ORPHA:2770
HP:0001276	Hypertonia	7305	TYROBP	OMIM:221770
HP:0001276	Hypertonia	22934	RPIA	OMIM:608611
HP:0001276	Hypertonia	23209	MLC1	OMIM:604004
HP:0001276	Hypertonia	26503	SLC17A5	OMIM:604369
HP:0001276	Hypertonia	10613	ERLIN1	OMIM:615681
HP:0001276	Hypertonia	116461	TSEN15	ORPHA:2524
HP:0001276	Hypertonia	79042	TSEN34	ORPHA:2524
HP:0001276	Hypertonia	51091	SEPSECS	ORPHA:2524
HP:0001276	Hypertonia	79867	TCTN2	OMIM:616654
HP:0001276	Hypertonia	6785	ELOVL4	OMIM:133190
HP:0001276	Hypertonia	617	BCS1L	OMIM:124000
HP:0001276	Hypertonia	84628	NTNG2	OMIM:618718
HP:0001276	Hypertonia	9179	AP4M1	ORPHA:280763
HP:0001276	Hypertonia	5621	PRNP	OMIM:137440
HP:0001276	Hypertonia	10577	NPC2	OMIM:607625
HP:0001276	Hypertonia	54802	TRIT1	OMIM:617873
HP:0001276	Hypertonia	23545	ATP6V0A2	ORPHA:357074
HP:0001276	Hypertonia	529	ATP6V1E1	ORPHA:357074
HP:0001276	Hypertonia	84631	SLITRK2	OMIM:301107
HP:0001276	Hypertonia	5538	PPT1	OMIM:256730
HP:0001276	Hypertonia	5455	POU3F3	OMIM:618604
HP:0001276	Hypertonia	4724	NDUFS4	OMIM:252010
HP:0001276	Hypertonia	9439	MED23	OMIM:614249
HP:0001276	Hypertonia	22930	RAB3GAP1	ORPHA:2510
HP:0001276	Hypertonia	25782	RAB3GAP2	ORPHA:2510
HP:0001276	Hypertonia	22931	RAB18	ORPHA:2510
HP:0001276	Hypertonia	128637	TBC1D20	ORPHA:2510
HP:0001276	Hypertonia	1468	SLC25A10	OMIM:618972
HP:0001276	Hypertonia	8884	SLC5A6	OMIM:618973
HP:0001276	Hypertonia	8803	SUCLA2	OMIM:612073
HP:0001276	Hypertonia	4747	NEFL	OMIM:617882
HP:0001276	Hypertonia	80169	CTC1	OMIM:612199
HP:0001276	Hypertonia	10844	TUBGCP2	OMIM:618737
HP:0001276	Hypertonia	4858	NOVA2	OMIM:618859
HP:0001276	Hypertonia	547	KIF1A	OMIM:614255
HP:0001276	Hypertonia	55753	OGDHL	OMIM:619701
HP:0001276	Hypertonia	3119	HLA-DQB1	OMIM:126200
HP:0001276	Hypertonia	3123	HLA-DRB1	OMIM:126200
HP:0001276	Hypertonia	3912	LAMB1	OMIM:615191
HP:0001276	Hypertonia	10973	ASCC3	OMIM:620700
HP:0001276	Hypertonia	9131	AIFM1	ORPHA:83629
HP:0001276	Hypertonia	55182	RNF220	OMIM:619688
HP:0001276	Hypertonia	518	ATP5MC3	OMIM:619681
HP:0001276	Hypertonia	5077	PAX3	ORPHA:896
HP:0001276	Hypertonia	5077	PAX3	OMIM:148820
HP:0001276	Hypertonia	4509	MT-ATP8	ORPHA:254913
HP:0001276	Hypertonia	514	ATP5F1E	ORPHA:254913
HP:0001276	Hypertonia	513	ATP5F1D	ORPHA:254913
HP:0001276	Hypertonia	84833	ATP5MK	ORPHA:254913
HP:0001276	Hypertonia	7920	ABHD16A	OMIM:619735
HP:0001276	Hypertonia	64837	KLC2	OMIM:609541
HP:0001276	Hypertonia	23064	SETX	ORPHA:357043
HP:0001276	Hypertonia	84842	HPDL	OMIM:619026
HP:0001276	Hypertonia	84842	HPDL	OMIM:619027
HP:0001276	Hypertonia	55656	INTS8	OMIM:618572
HP:0001276	Hypertonia	267	AMFR	OMIM:620379
HP:0001276	Hypertonia	5910	RAP1GDS1	OMIM:620655
HP:0001276	Hypertonia	54880	BCOR	OMIM:309800
HP:0001276	Hypertonia	8050	PDHX	ORPHA:255182
HP:0001276	Hypertonia	1615	DARS1	OMIM:615281
HP:0001276	Hypertonia	2316	FLNA	OMIM:300048
HP:0001276	Hypertonia	3295	HSD17B4	OMIM:233400
HP:0001276	Hypertonia	55250	ELP2	OMIM:617270
HP:0001276	Hypertonia	4697	NDUFA4	OMIM:619065
HP:0001276	Hypertonia	4990	SIX6	OMIM:206900
HP:0001276	Hypertonia	6657	SOX2	OMIM:206900
HP:0001276	Hypertonia	10075	HUWE1	OMIM:309590
HP:0001276	Hypertonia	2137	EXTL3	ORPHA:508533
HP:0001276	Hypertonia	11113	CIT	OMIM:617090
HP:0001276	Hypertonia	4702	NDUFA8	OMIM:619272
HP:0001276	Hypertonia	3763	KCNJ6	ORPHA:435628
HP:0001276	Hypertonia	3763	KCNJ6	OMIM:614098
HP:0001276	Hypertonia	6535	SLC6A8	OMIM:300352
HP:0001276	Hypertonia	6535	SLC6A8	ORPHA:52503
HP:0001276	Hypertonia	23394	ADNP	ORPHA:404448
HP:0001276	Hypertonia	5723	PSPH	OMIM:614023
HP:0001276	Hypertonia	5723	PSPH	ORPHA:79350
HP:0001276	Hypertonia	29925	GMPPB	OMIM:615351
HP:0001276	Hypertonia	29925	GMPPB	ORPHA:588
HP:0001276	Hypertonia	55532	SLC30A10	ORPHA:309854
HP:0001276	Hypertonia	27247	NFU1	OMIM:620938
HP:0001276	Hypertonia	22880	MORC2	OMIM:616688
HP:0001276	Hypertonia	22880	MORC2	ORPHA:466768
HP:0001276	Hypertonia	673	BRAF	OMIM:115150
HP:0001276	Hypertonia	55627	SMPD4	OMIM:618622
HP:0001276	Hypertonia	3008	H1-4	OMIM:617537
HP:0001276	Hypertonia	3703	STT3A	OMIM:619714
HP:0001276	Hypertonia	6326	SCN2A	ORPHA:293181
HP:0001276	Hypertonia	6326	SCN2A	ORPHA:306
HP:0001276	Hypertonia	57468	SLC12A5	ORPHA:293181
HP:0001276	Hypertonia	23236	PLCB1	ORPHA:293181
HP:0001276	Hypertonia	3785	KCNQ2	ORPHA:293181
HP:0001276	Hypertonia	3785	KCNQ2	ORPHA:306
HP:0001276	Hypertonia	57582	KCNT1	ORPHA:293181
HP:0001276	Hypertonia	5277	PIGA	ORPHA:293181
HP:0001276	Hypertonia	6323	SCN1A	ORPHA:293181
HP:0001276	Hypertonia	79751	SLC25A22	ORPHA:293181
HP:0001276	Hypertonia	57465	TBC1D24	ORPHA:293181
HP:0001276	Hypertonia	1119	CHKA	OMIM:620023
HP:0001276	Hypertonia	8496	PPFIBP1	OMIM:620024
HP:0001276	Hypertonia	51	ACOX1	ORPHA:2971
HP:0001276	Hypertonia	51	ACOX1	OMIM:264470
HP:0001276	Hypertonia	57176	VARS2	OMIM:615917
HP:0001276	Hypertonia	3073	HEXA	OMIM:272800
HP:0001276	Hypertonia	4072	EPCAM	ORPHA:144
HP:0001276	Hypertonia	4292	MLH1	ORPHA:144
HP:0001276	Hypertonia	5395	PMS2	ORPHA:144
HP:0001276	Hypertonia	7048	TGFBR2	ORPHA:144
HP:0001276	Hypertonia	3845	KRAS	ORPHA:144
HP:0001276	Hypertonia	3845	KRAS	ORPHA:2396
HP:0001276	Hypertonia	5290	PIK3CA	ORPHA:144
HP:0001276	Hypertonia	2956	MSH6	ORPHA:144
HP:0001276	Hypertonia	5378	PMS1	ORPHA:144
HP:0001276	Hypertonia	4436	MSH2	ORPHA:144
HP:0001276	Hypertonia	4552	MTRR	OMIM:236270
HP:0001276	Hypertonia	4535	MT-ND1	ORPHA:255210
HP:0001276	Hypertonia	4536	MT-ND2	ORPHA:255210
HP:0001276	Hypertonia	4537	MT-ND3	ORPHA:255210
HP:0001276	Hypertonia	4538	MT-ND4	ORPHA:255210
HP:0001276	Hypertonia	4567	MT-TL1	ORPHA:255210
HP:0001276	Hypertonia	4578	MT-TW	ORPHA:255210
HP:0001276	Hypertonia	4577	MT-TV	ORPHA:255210
HP:0001276	Hypertonia	4508	MT-ATP6	ORPHA:255210
HP:0001276	Hypertonia	4508	MT-ATP6	ORPHA:225154
HP:0001276	Hypertonia	4540	MT-ND5	ORPHA:255210
HP:0001276	Hypertonia	4541	MT-ND6	ORPHA:255210
HP:0001276	Hypertonia	4566	MT-TK	ORPHA:255210
HP:0001276	Hypertonia	51218	GLRX5	ORPHA:401866
HP:0001276	Hypertonia	6531	SLC6A3	ORPHA:238455
HP:0001276	Hypertonia	6531	SLC6A3	OMIM:613135
HP:0001276	Hypertonia	80816	ASXL3	OMIM:615485
HP:0001276	Hypertonia	80816	ASXL3	ORPHA:352577
HP:0001276	Hypertonia	6536	SLC6A9	OMIM:617301
HP:0001276	Hypertonia	10528	NOP56	OMIM:614153
HP:0001276	Hypertonia	64218	SEMA4A	ORPHA:440437
HP:0001276	Hypertonia	472	ATM	ORPHA:440437
HP:0001276	Hypertonia	5426	POLE	ORPHA:440437
HP:0001276	Hypertonia	675	BRCA2	ORPHA:440437
HP:0001276	Hypertonia	657	BMPR1A	ORPHA:440437
HP:0001276	Hypertonia	6224	RPS20	ORPHA:440437
HP:0001276	Hypertonia	4595	MUTYH	ORPHA:440437
HP:0001276	Hypertonia	5424	POLD1	ORPHA:440437
HP:0001276	Hypertonia	11200	CHEK2	ORPHA:440437
HP:0001276	Hypertonia	1841	DTYMK	OMIM:619847
HP:0001276	Hypertonia	166378	AFG2A	OMIM:616577
HP:0001276	Hypertonia	100996717	NOTCH2NLC	ORPHA:2289
HP:0001276	Hypertonia	3141	HLCS	OMIM:253270
HP:0001276	Hypertonia	80055	PGAP1	OMIM:615802
HP:0001276	Hypertonia	5610	EIF2AK2	OMIM:618877
HP:0001276	Hypertonia	5610	EIF2AK2	ORPHA:256
HP:0001276	Hypertonia	55163	PNPO	ORPHA:79096
HP:0001276	Hypertonia	55163	PNPO	OMIM:610090
HP:0001276	Hypertonia	1717	DHCR7	ORPHA:818
HP:0001276	Hypertonia	1717	DHCR7	OMIM:270400
HP:0001276	Hypertonia	1410	CRYAB	OMIM:613869
HP:0001276	Hypertonia	271	AMPD2	OMIM:615809
HP:0001276	Hypertonia	271	AMPD2	ORPHA:401805
HP:0001276	Hypertonia	271	AMPD2	OMIM:615686
HP:0001276	Hypertonia	51324	SPG21	OMIM:248900
HP:0001276	Hypertonia	284403	WDR62	OMIM:604317
HP:0001276	Hypertonia	9289	ADGRG1	OMIM:606854
HP:0001276	Hypertonia	2892	GRIA3	OMIM:300699
HP:0001276	Hypertonia	5119	CHMP1A	OMIM:614961
HP:0001276	Hypertonia	9692	PRORP	OMIM:619737
HP:0001276	Hypertonia	10352	WARS2	OMIM:619738
HP:0001276	Hypertonia	10352	WARS2	OMIM:617710
HP:0001276	Hypertonia	3064	HTT	OMIM:617435
HP:0001276	Hypertonia	340024	SLC6A19	OMIM:234500
HP:0001276	Hypertonia	55157	DARS2	ORPHA:137898
HP:0001276	Hypertonia	2770	GNAI1	OMIM:619854
HP:0001276	Hypertonia	2260	FGFR1	ORPHA:2396
HP:0001276	Hypertonia	114034	TOE1	OMIM:614969
HP:0001276	Hypertonia	114034	TOE1	ORPHA:284339
HP:0001276	Hypertonia	2074	ERCC6	OMIM:278800
HP:0001276	Hypertonia	2074	ERCC6	ORPHA:1466
HP:0001276	Hypertonia	259232	NALCN	ORPHA:562528
HP:0001276	Hypertonia	7274	TTPA	ORPHA:96
HP:0001276	Hypertonia	283989	TSEN54	ORPHA:166063
HP:0001276	Hypertonia	283989	TSEN54	OMIM:225753
HP:0001276	Hypertonia	22872	SEC31A	OMIM:618651
HP:0001276	Hypertonia	5297	PI4KA	OMIM:619621
HP:0001276	Hypertonia	26053	AUTS2	ORPHA:352490
HP:0001276	Hypertonia	26053	AUTS2	OMIM:615834
HP:0001276	Hypertonia	25930	PTPN23	OMIM:618890
HP:0001276	Hypertonia	23400	ATP13A2	ORPHA:306674
HP:0001276	Hypertonia	23400	ATP13A2	OMIM:606693
HP:0001276	Hypertonia	23036	ZNF292	OMIM:619188
HP:0001276	Hypertonia	2903	GRIN2A	ORPHA:289266
HP:0001276	Hypertonia	6663	SOX10	OMIM:611584
HP:0001276	Hypertonia	23230	VPS13A	ORPHA:2388
HP:0001276	Hypertonia	4338	MOCS2	OMIM:252160
HP:0001276	Hypertonia	79158	GNPTAB	OMIM:252600
HP:0001276	Hypertonia	9152	SLC6A5	OMIM:614618
HP:0001276	Hypertonia	9152	SLC6A5	ORPHA:3197
HP:0001276	Hypertonia	4247	MGAT2	OMIM:212066
HP:0001276	Hypertonia	2743	GLRB	OMIM:614619
HP:0001276	Hypertonia	2743	GLRB	ORPHA:3197
HP:0001276	Hypertonia	9653	HS2ST1	OMIM:619194
HP:0001276	Hypertonia	1798	DPAGT1	ORPHA:86309
HP:0001276	Hypertonia	1798	DPAGT1	OMIM:608093
HP:0001276	Hypertonia	1267	CNP	OMIM:619071
HP:0001276	Hypertonia	1727	CYB5R3	OMIM:250800
HP:0001276	Hypertonia	1727	CYB5R3	ORPHA:621
HP:0001276	Hypertonia	7157	TP53	ORPHA:2807
HP:0001276	Hypertonia	10717	AP4B1	OMIM:614066
HP:0001276	Hypertonia	149371	EXOC8	OMIM:619076
HP:0001276	Hypertonia	593	BCKDHA	OMIM:248600
HP:0001276	Hypertonia	11154	AP4S1	OMIM:614067
HP:0001276	Hypertonia	2629	GBA1	ORPHA:85212
HP:0001276	Hypertonia	2629	GBA1	ORPHA:2072
HP:0001276	Hypertonia	2629	GBA1	OMIM:230900
HP:0001276	Hypertonia	51633	OTUD6B	OMIM:617452
HP:0001276	Hypertonia	51633	OTUD6B	ORPHA:505237
HP:0001276	Hypertonia	92609	TIMM50	OMIM:617698
HP:0001276	Hypertonia	116115	ZNF526	OMIM:619877
HP:0001276	Hypertonia	285175	UNC80	OMIM:616801
HP:0001276	Hypertonia	8021	NUP214	OMIM:618426
HP:0001276	Hypertonia	6329	SCN4A	ORPHA:99735
HP:0001276	Hypertonia	6329	SCN4A	ORPHA:99736
HP:0001276	Hypertonia	6329	SCN4A	ORPHA:682
HP:0001276	Hypertonia	5428	POLG	OMIM:203700
HP:0001276	Hypertonia	5428	POLG	ORPHA:254892
HP:0001276	Hypertonia	11128	POLR3A	OMIM:264090
HP:0001276	Hypertonia	11128	POLR3A	ORPHA:3455
HP:0001276	Hypertonia	58	ACTA1	OMIM:161800
HP:0001276	Hypertonia	80704	SLC19A3	OMIM:607483
HP:0001276	Hypertonia	148789	B3GALNT2	ORPHA:588
HP:0001276	Hypertonia	79147	FKRP	ORPHA:588
HP:0001276	Hypertonia	9215	LARGE1	ORPHA:588
HP:0001276	Hypertonia	29954	POMT2	ORPHA:588
HP:0001276	Hypertonia	2218	FKTN	ORPHA:588
HP:0001276	Hypertonia	729920	CRPPA	ORPHA:588
HP:0001276	Hypertonia	55624	POMGNT1	ORPHA:588
HP:0001276	Hypertonia	10585	POMT1	ORPHA:588
HP:0001276	Hypertonia	55719	SLF2	OMIM:620184
HP:0001276	Hypertonia	6558	SLC12A2	OMIM:619083
HP:0001276	Hypertonia	5551	PRF1	OMIM:603553
HP:0001276	Hypertonia	79718	TBL1XR1	OMIM:602342
HP:0001276	Hypertonia	4644	MYO5A	ORPHA:33445
HP:0001276	Hypertonia	4644	MYO5A	ORPHA:79476
HP:0001276	Hypertonia	2521	FUS	ORPHA:300605
HP:0001276	Hypertonia	80208	SPG11	ORPHA:300605
HP:0001276	Hypertonia	10280	SIGMAR1	ORPHA:300605
HP:0001276	Hypertonia	10558	SPTLC1	ORPHA:300605
HP:0001276	Hypertonia	57679	ALS2	ORPHA:300605
HP:0001276	Hypertonia	57679	ALS2	OMIM:205100
HP:0001276	Hypertonia	4089	SMAD4	OMIM:139210
HP:0001276	Hypertonia	3800	KIF5C	OMIM:615282
HP:0001276	Hypertonia	2232	FDXR	ORPHA:543470
HP:0001276	Hypertonia	26227	PHGDH	OMIM:601815
HP:0001276	Hypertonia	26227	PHGDH	ORPHA:79351
HP:0001276	Hypertonia	59336	PRDM13	OMIM:619761
HP:0001276	Hypertonia	4285	MIPEP	OMIM:617228
HP:0001276	Hypertonia	773	CACNA1A	OMIM:617106
HP:0001276	Hypertonia	9409	PEX16	OMIM:614877
HP:0001276	Hypertonia	10297	APC2	OMIM:618677
HP:0001276	Hypertonia	64135	IFIH1	OMIM:615846
HP:0001276	Hypertonia	64135	IFIH1	ORPHA:51
HP:0001276	Hypertonia	3708	ITPR1	OMIM:117360
HP:0001276	Hypertonia	9440	MED17	OMIM:613668
HP:0001276	Hypertonia	57466	SCAF4	OMIM:620511
HP:0001276	Hypertonia	79971	WLS	OMIM:619648
HP:0001276	Hypertonia	1861	TOR1A	ORPHA:256
HP:0001276	Hypertonia	1861	TOR1A	OMIM:128100
HP:0001276	Hypertonia	1861	TOR1A	OMIM:618947
HP:0001276	Hypertonia	55164	SHQ1	ORPHA:256
HP:0001276	Hypertonia	5092	PCBD1	OMIM:264070
HP:0001276	Hypertonia	5092	PCBD1	ORPHA:1578
HP:0001276	Hypertonia	4677	NARS1	OMIM:619091
HP:0001276	Hypertonia	4677	NARS1	OMIM:619092
HP:0001276	Hypertonia	55275	VPS53	OMIM:615851
HP:0001276	Hypertonia	25836	NIPBL	OMIM:122470
HP:0001276	Hypertonia	25836	NIPBL	ORPHA:199
HP:0001276	Hypertonia	2720	GLB1	OMIM:230500
HP:0001276	Hypertonia	2146	EZH2	OMIM:277590
HP:0001276	Hypertonia	2146	EZH2	ORPHA:3447
HP:0001276	Hypertonia	5663	PSEN1	ORPHA:1020
HP:0001276	Hypertonia	5664	PSEN2	ORPHA:1020
HP:0001276	Hypertonia	10452	TOMM40	ORPHA:1020
HP:0001276	Hypertonia	351	APP	ORPHA:1020
HP:0001276	Hypertonia	54209	TREM2	ORPHA:1020
HP:0001276	Hypertonia	10347	ABCA7	ORPHA:1020
HP:0001276	Hypertonia	6653	SORL1	ORPHA:1020
HP:0001276	Hypertonia	404672	GTF2H5	ORPHA:33364
HP:0001276	Hypertonia	404672	GTF2H5	OMIM:616395
HP:0001276	Hypertonia	833	CARS1	ORPHA:33364
HP:0001276	Hypertonia	2068	ERCC2	ORPHA:33364
HP:0001276	Hypertonia	2068	ERCC2	ORPHA:1466
HP:0001276	Hypertonia	7737	RNF113A	ORPHA:33364
HP:0001276	Hypertonia	136647	MPLKIP	ORPHA:33364
HP:0001276	Hypertonia	6897	TARS1	ORPHA:33364
HP:0001276	Hypertonia	16	AARS1	ORPHA:33364
HP:0001276	Hypertonia	2071	ERCC3	ORPHA:33364
HP:0001276	Hypertonia	2961	GTF2E2	ORPHA:33364
HP:0001276	Hypertonia	10195	ALG3	ORPHA:79321
HP:0001276	Hypertonia	10195	ALG3	OMIM:601110
HP:0001276	Hypertonia	51750	RTEL1	ORPHA:3322
HP:0001276	Hypertonia	65057	ACD	ORPHA:3322
HP:0001276	Hypertonia	5073	PARN	ORPHA:3322
HP:0001276	Hypertonia	7015	TERT	ORPHA:3322
HP:0001276	Hypertonia	26277	TINF2	ORPHA:3322
HP:0001276	Hypertonia	26277	TINF2	OMIM:268130
HP:0001276	Hypertonia	1736	DKC1	ORPHA:3322
HP:0001276	Hypertonia	6509	SLC1A4	ORPHA:447997
HP:0001276	Hypertonia	9526	MPDU1	ORPHA:79323
HP:0001276	Hypertonia	9526	MPDU1	OMIM:609180
HP:0001276	Hypertonia	6843	VAMP1	ORPHA:251282
HP:0001276	Hypertonia	3339	HSPG2	ORPHA:800
HP:0001276	Hypertonia	64324	NSD1	ORPHA:3447
HP:0001276	Hypertonia	23512	SUZ12	ORPHA:3447
HP:0001276	Hypertonia	28962	OSTM1	OMIM:259720
HP:0001276	Hypertonia	51645	PPIL1	OMIM:619301
HP:0001276	Hypertonia	51362	CDC40	OMIM:619302
HP:0001276	Hypertonia	3658	IREB2	OMIM:618451
HP:0001276	Hypertonia	2581	GALC	OMIM:245200
HP:0001276	Hypertonia	10243	GPHN	OMIM:615501
HP:0001276	Hypertonia	10243	GPHN	ORPHA:3197
HP:0001276	Hypertonia	10243	GPHN	OMIM:149400
HP:0001276	Hypertonia	57017	COQ9	OMIM:614654
HP:0001276	Hypertonia	27429	HTRA2	OMIM:617248
HP:0001276	Hypertonia	9445	ITM2B	OMIM:176500
HP:0001276	Hypertonia	10664	CTCF	OMIM:615502
HP:0001276	Hypertonia	10535	RNASEH2A	ORPHA:51
HP:0001276	Hypertonia	84153	RNASEH2C	ORPHA:51
HP:0001276	Hypertonia	25939	SAMHD1	ORPHA:51
HP:0001276	Hypertonia	79621	RNASEH2B	ORPHA:51
HP:0001276	Hypertonia	103	ADAR	ORPHA:51
HP:0001276	Hypertonia	103	ADAR	ORPHA:225154
HP:0001276	Hypertonia	11277	TREX1	ORPHA:51
HP:0001276	Hypertonia	100147744	RNU7-1	ORPHA:51
HP:0001276	Hypertonia	100147744	RNU7-1	OMIM:619487
HP:0001276	Hypertonia	134353	LSM11	ORPHA:51
HP:0001276	Hypertonia	8260	NAA10	ORPHA:276432
HP:0001276	Hypertonia	8260	NAA10	OMIM:300855
HP:0001276	Hypertonia	4001	LMNB1	ORPHA:99027
HP:0001276	Hypertonia	6513	SLC2A1	ORPHA:71277
HP:0001276	Hypertonia	6513	SLC2A1	OMIM:608885
HP:0001276	Hypertonia	6513	SLC2A1	ORPHA:168577
HP:0001276	Hypertonia	291	SLC25A4	ORPHA:254892
HP:0001276	Hypertonia	56652	TWNK	ORPHA:254892
HP:0001276	Hypertonia	11232	POLG2	ORPHA:254892
HP:0001276	Hypertonia	50484	RRM2B	ORPHA:254892
HP:0001276	Hypertonia	84706	GPT2	OMIM:616281
HP:0001276	Hypertonia	8243	SMC1A	OMIM:301044
HP:0001276	Hypertonia	8243	SMC1A	ORPHA:199
HP:0001276	Hypertonia	84894	LINGO1	OMIM:618103
HP:0001276	Hypertonia	10785	WDR4	OMIM:618346
HP:0001276	Hypertonia	10785	WDR4	ORPHA:2065
HP:0001276	Hypertonia	30000	TNPO2	OMIM:619556
HP:0001276	Hypertonia	54892	NCAPG2	OMIM:618460
HP:0001276	Hypertonia	1859	DYRK1A	ORPHA:268261
HP:0001276	Hypertonia	8573	CASK	OMIM:300749
HP:0001276	Hypertonia	23314	SATB2	ORPHA:251028
HP:0001276	Hypertonia	85476	GFM1	OMIM:609060
HP:0001276	Hypertonia	2653	GCSH	OMIM:620423
HP:0001276	Hypertonia	51117	COQ4	OMIM:620666
HP:0001276	Hypertonia	6334	SCN8A	ORPHA:306
HP:0001276	Hypertonia	112476	PRRT2	ORPHA:306
HP:0001276	Hypertonia	3786	KCNQ3	ORPHA:306
HP:0001276	Hypertonia	5309	PITX3	OMIM:610623
HP:0001276	Hypertonia	6571	SLC18A2	ORPHA:352649
HP:0001276	Hypertonia	170302	ARX	OMIM:308350
HP:0001276	Hypertonia	170302	ARX	ORPHA:3175
HP:0001276	Hypertonia	81570	CLPB	ORPHA:445038
HP:0001276	Hypertonia	4967	OGDH	ORPHA:31
HP:0001276	Hypertonia	56521	DNAJC12	OMIM:617384
HP:0001276	Hypertonia	23114	NFASC	OMIM:618356
HP:0001276	Hypertonia	6647	SOD1	OMIM:618598
HP:0001276	Hypertonia	10978	CLP1	ORPHA:411493
HP:0001276	Hypertonia	1806	DPYD	OMIM:274270
HP:0001276	Hypertonia	1806	DPYD	ORPHA:1675
HP:0001276	Hypertonia	23291	FBXW11	OMIM:618914
HP:0001276	Hypertonia	29968	PSAT1	OMIM:610992
HP:0001276	Hypertonia	29968	PSAT1	ORPHA:284417
HP:0001276	Hypertonia	5660	PSAP	OMIM:611722
HP:0001276	Hypertonia	3736	KCNA1	ORPHA:37612
HP:0001276	Hypertonia	25885	POLR1A	OMIM:620675
HP:0001276	Hypertonia	5053	PAH	ORPHA:79254
HP:0001276	Hypertonia	23097	CDK19	OMIM:618916
HP:0001276	Hypertonia	2067	ERCC1	OMIM:610758
HP:0001276	Hypertonia	2067	ERCC1	ORPHA:1466
HP:0001276	Hypertonia	79068	FTO	OMIM:612938
HP:0001276	Hypertonia	4784	NFIX	OMIM:602535
HP:0001276	Hypertonia	65055	REEP1	ORPHA:101011
HP:0001276	Hypertonia	10588	MTHFS	OMIM:618367
HP:0001276	Hypertonia	63925	ZNF335	OMIM:615095
HP:0001276	Hypertonia	25915	NDUFAF3	OMIM:618240
HP:0001276	Hypertonia	2073	ERCC5	ORPHA:1466
HP:0001276	Hypertonia	7169	TPM2	OMIM:609285
HP:0001276	Hypertonia	23229	ARHGEF9	ORPHA:163985
HP:0001276	Hypertonia	23229	ARHGEF9	OMIM:300607
HP:0001276	Hypertonia	91137	SLC25A46	OMIM:616505
HP:0001276	Hypertonia	3183	HNRNPC	OMIM:620688
HP:0001276	Hypertonia	2138	EYA1	ORPHA:2792
HP:0001276	Hypertonia	5075	PAX1	ORPHA:2792
HP:0001276	Hypertonia	1737	DLAT	ORPHA:79244
HP:0001276	Hypertonia	128989	TANGO2	ORPHA:480864
HP:0001276	Hypertonia	91647	ATPAF2	OMIM:604273
HP:0001276	Hypertonia	6821	SUOX	OMIM:272300
HP:0001276	Hypertonia	5805	PTS	ORPHA:13
HP:0001276	Hypertonia	5805	PTS	OMIM:261640
HP:0001276	Hypertonia	538	ATP7A	ORPHA:565
HP:0001276	Hypertonia	538	ATP7A	OMIM:309400
HP:0001276	Hypertonia	27031	NPHP3	OMIM:267010
HP:0001276	Hypertonia	5903	RANBP2	ORPHA:88619
HP:0001276	Hypertonia	5903	RANBP2	OMIM:608033
HP:0001276	Hypertonia	2741	GLRA1	ORPHA:3197
HP:0001276	Hypertonia	2741	GLRA1	OMIM:149400
HP:0001276	Hypertonia	84896	ATAD1	ORPHA:3197
HP:0001276	Hypertonia	84896	ATAD1	OMIM:618011
HP:0001276	Hypertonia	11342	RNF13	OMIM:618379
HP:0001276	Hypertonia	11342	RNF13	ORPHA:544503
HP:0001276	Hypertonia	9451	EIF2AK3	OMIM:226980
HP:0001276	Hypertonia	8802	SUCLG1	ORPHA:17
HP:0001276	Hypertonia	26040	SETBP1	OMIM:616078
HP:0001276	Hypertonia	26040	SETBP1	ORPHA:798
HP:0001276	Hypertonia	3188	HNRNPH2	OMIM:300986
HP:0001276	Hypertonia	54664	TMEM106B	OMIM:617964
HP:0001276	Hypertonia	64374	SIL1	ORPHA:559
HP:0001276	Hypertonia	1974	EIF4A2	OMIM:620455
HP:0001276	Hypertonia	220296	HEPACAM	OMIM:613925
HP:0001276	Hypertonia	5873	RAB27A	ORPHA:79477
HP:0001276	Hypertonia	23476	BRD4	ORPHA:199
HP:0001276	Hypertonia	9126	SMC3	ORPHA:199
HP:0001276	Hypertonia	6878	TAF6	ORPHA:199
HP:0001276	Hypertonia	55869	HDAC8	ORPHA:199
HP:0001276	Hypertonia	5885	RAD21	ORPHA:199
HP:0001276	Hypertonia	9997	SCO2	OMIM:604377
HP:0001276	Hypertonia	11212	PLPBP	OMIM:617290
HP:0001276	Hypertonia	6197	RPS6KA3	ORPHA:192
HP:0001276	Hypertonia	55697	VAC14	OMIM:617054
HP:0001276	Hypertonia	51501	HIKESHI	OMIM:616881
HP:0001276	Hypertonia	6711	SPTBN1	OMIM:619475
HP:0001276	Hypertonia	58494	JAM2	OMIM:618824
HP:0001276	Hypertonia	9927	MFN2	OMIM:609260
HP:0001276	Hypertonia	9894	TELO2	ORPHA:488642
HP:0001276	Hypertonia	25914	RTTN	ORPHA:468631
HP:0001276	Hypertonia	8405	SPOP	OMIM:618828
HP:0001276	Hypertonia	63895	PIEZO2	OMIM:108145
HP:0001276	Hypertonia	1528	CYB5A	ORPHA:621
HP:0001276	Hypertonia	1130	LYST	ORPHA:352723
HP:0001276	Hypertonia	162417	NAGS	OMIM:237310
HP:0001276	Hypertonia	10682	EBP	OMIM:300960
HP:0001276	Hypertonia	1718	DHCR24	ORPHA:35107
HP:0001276	Hypertonia	2571	GAD1	OMIM:619124
HP:0001276	Hypertonia	440138	ALG11	ORPHA:280071
HP:0001276	Hypertonia	200894	ARL13B	OMIM:612291
HP:0001276	Hypertonia	79143	MBOAT7	OMIM:617188
HP:0001276	Hypertonia	57688	ZSWIM6	OMIM:617865
HP:0001276	Hypertonia	2893	GRIA4	OMIM:617864
HP:0001276	Hypertonia	4976	OPA1	OMIM:616896
HP:0001276	Hypertonia	3832	KIF11	ORPHA:2526
HP:0001276	Hypertonia	4190	MDH1	OMIM:618959
HP:0001276	Hypertonia	57570	TRMT5	OMIM:616539
HP:0001276	Hypertonia	2593	GAMT	OMIM:612736
HP:0001276	Hypertonia	3516	RBPJ	ORPHA:974
HP:0001276	Hypertonia	4851	NOTCH1	ORPHA:974
HP:0001276	Hypertonia	57514	ARHGAP31	ORPHA:974
HP:0001276	Hypertonia	57572	DOCK6	ORPHA:974
HP:0001276	Hypertonia	285203	EOGT	ORPHA:974
HP:0001276	Hypertonia	54567	DLL4	ORPHA:974
HP:0001276	Hypertonia	113246	C12orf57	OMIM:218340
HP:0001276	Hypertonia	55691	FRMD4A	ORPHA:466688
HP:0001276	Hypertonia	23636	NUP62	ORPHA:225154
HP:0001276	Hypertonia	53371	NUP54	ORPHA:225154
HP:0001276	Hypertonia	54888	NSUN2	OMIM:611091
HP:0001276	Hypertonia	3739	KCNA4	OMIM:618284
HP:0001276	Hypertonia	440	ASNS	OMIM:615574
HP:0001276	Hypertonia	84231	TRAF7	OMIM:618164
HP:0001276	Hypertonia	100151683	RNU4ATAC	ORPHA:2636
HP:0001276	Hypertonia	85378	TUBGCP6	ORPHA:2518
HP:0001276	Hypertonia	27229	TUBGCP4	ORPHA:2518
HP:0001276	Hypertonia	10733	PLK4	ORPHA:2518
HP:0001276	Hypertonia	1968	EIF2S3	ORPHA:85282
HP:0001276	Hypertonia	8799	PEX11B	OMIM:614920
HP:0001276	Hypertonia	4693	NDP	ORPHA:649
HP:0001276	Hypertonia	23529	CLCF1	ORPHA:1545
HP:0001276	Hypertonia	9244	CRLF1	ORPHA:1545
HP:0001276	Hypertonia	4860	PNP	ORPHA:760
HP:0001276	Hypertonia	9562	MINPP1	ORPHA:284339
HP:0001276	Hypertonia	3735	KARS1	OMIM:619147
HP:0001276	Hypertonia	5860	QDPR	OMIM:261630
HP:0001276	Hypertonia	51075	TMX2	OMIM:618730
HP:0001276	Hypertonia	1496	CTNNA2	OMIM:618174
HP:0001276	Hypertonia	35	ACADS	ORPHA:26792
HP:0001276	Hypertonia	221927	BRAT1	OMIM:618056
HP:0001276	Hypertonia	221927	BRAT1	OMIM:614498
HP:0001276	Hypertonia	54820	NDE1	OMIM:614019
HP:0001276	Hypertonia	9373	PLAA	OMIM:617527
HP:0001276	Hypertonia	79693	YRDC	ORPHA:2065
HP:0001276	Hypertonia	51002	TPRKB	ORPHA:2065
HP:0001276	Hypertonia	84942	WDR73	ORPHA:2065
HP:0001276	Hypertonia	55644	OSGEP	ORPHA:2065
HP:0001276	Hypertonia	57122	NUP107	ORPHA:2065
HP:0001276	Hypertonia	55746	NUP133	ORPHA:2065
HP:0001276	Hypertonia	84520	GON7	ORPHA:2065
HP:0001276	Hypertonia	112858	TP53RK	ORPHA:2065
HP:0001276	Hypertonia	8270	LAGE3	ORPHA:2065
HP:0001276	Hypertonia	8942	KYNU	ORPHA:79155
HP:0001276	Hypertonia	8398	PLA2G6	OMIM:610217
HP:0001276	Hypertonia	2760	GM2A	OMIM:272750
HP:0001276	Hypertonia	84065	TMEM222	OMIM:619470
HP:0001276	Hypertonia	10617	STAMBP	OMIM:614261
HP:0001276	Hypertonia	51399	TRAPPC4	OMIM:618741
HP:0001276	Hypertonia	6659	SOX4	OMIM:618506
HP:0001276	Hypertonia	7355	SLC35A2	ORPHA:356961
HP:0001276	Hypertonia	84334	COA8	ORPHA:436271
HP:0001276	Hypertonia	84334	COA8	OMIM:619061
HP:0001276	Hypertonia	51601	LIPT1	OMIM:616299
HP:0001276	Hypertonia	387787	LIPT2	OMIM:617668
HP:0001276	Hypertonia	473	RERE	OMIM:616975
HP:0001276	Hypertonia	4010	LMX1B	ORPHA:495818
HP:0001276	Hypertonia	498	ATP5F1A	OMIM:620358
HP:0001276	Hypertonia	56246	MRAP	OMIM:607398
HP:0001276	Hypertonia	79944	L2HGDH	OMIM:236792
HP:0001276	Hypertonia	79944	L2HGDH	ORPHA:79314
HP:0001276	Hypertonia	2192	FBLN1	ORPHA:404451
HP:0001276	Hypertonia	2937	GSS	OMIM:266130
HP:0001276	Hypertonia	348	APOE	OMIM:607822
HP:0001276	Hypertonia	3899	AFF3	OMIM:619297
HP:0001276	Hypertonia	29960	MRM2	OMIM:618567
HP:0001276	Hypertonia	124454	EARS2	OMIM:614924
HP:0001276	Hypertonia	58497	PRUNE1	OMIM:617481
HP:0001276	Hypertonia	58497	PRUNE1	ORPHA:544469
HP:0001276	Hypertonia	221692	PHACTR1	OMIM:618298
HP:0001276	Hypertonia	54808	DYM	ORPHA:239
HP:0001276	Hypertonia	9361	LONP1	OMIM:600373
HP:0001276	Hypertonia	4524	MTHFR	ORPHA:395
HP:0001276	Hypertonia	340533	NEXMIF	OMIM:300912
HP:0001276	Hypertonia	1183	CLCN4	OMIM:300114
HP:0001276	Hypertonia	1183	CLCN4	ORPHA:485350
HP:0001276	Hypertonia	1355	COX15	OMIM:615119
HP:0001276	Hypertonia	775	CACNA1C	OMIM:620029
HP:0001276	Hypertonia	81790	RNF170	OMIM:619686
HP:0001276	Hypertonia	27102	EIF2AK1	OMIM:618878
HP:0001276	Hypertonia	816	CAMK2B	OMIM:617799
HP:0001276	Hypertonia	51079	NDUFA13	OMIM:618249
HP:0001276	Hypertonia	9675	TTI1	OMIM:620445
HP:0001276	Hypertonia	4361	MRE11	OMIM:604391
HP:0001276	Hypertonia	9354	UBE4A	OMIM:619639
HP:0001276	Hypertonia	79759	ZNF668	OMIM:620194
HP:0001276	Hypertonia	79796	ALG9	ORPHA:79328
HP:0001276	Hypertonia	25814	ATXN10	ORPHA:98761
HP:0001276	Hypertonia	57459	GATAD2B	ORPHA:363686
HP:0001276	Hypertonia	9338	TCEAL1	OMIM:301094
HP:0001276	Hypertonia	60	ACTB	OMIM:620475
HP:0001276	Hypertonia	10667	FARS2	ORPHA:466722
HP:0001276	Hypertonia	23299	BICD2	OMIM:615290
HP:0001276	Hypertonia	339855	KY	ORPHA:496689
HP:0001276	Hypertonia	131118	DNAJC19	ORPHA:66634
HP:0001276	Hypertonia	200403	VWA3B	OMIM:616948
HP:0001276	Hypertonia	85021	REPS1	OMIM:617916
HP:0001276	Hypertonia	27072	VPS41	OMIM:619389
HP:0001276	Hypertonia	84274	COQ5	OMIM:619028
HP:0001276	Hypertonia	51763	INPP5K	OMIM:617404
HP:0001276	Hypertonia	8625	RFXANK	OMIM:620815
HP:0001276	Hypertonia	2639	GCDH	ORPHA:25
HP:0001276	Hypertonia	2639	GCDH	OMIM:231670
HP:0001276	Hypertonia	6515	SLC2A3	ORPHA:399
HP:0001276	Hypertonia	51062	ATL1	ORPHA:100984
HP:0001276	Hypertonia	26058	GIGYF2	OMIM:607688
HP:0001276	Hypertonia	26058	GIGYF2	ORPHA:411602
HP:0001276	Hypertonia	4137	MAPT	OMIM:601104
HP:0001276	Hypertonia	4137	MAPT	ORPHA:240094
HP:0001276	Hypertonia	4137	MAPT	ORPHA:240085
HP:0001276	Hypertonia	4137	MAPT	ORPHA:240103
HP:0001276	Hypertonia	4137	MAPT	OMIM:260540
HP:0001276	Hypertonia	4137	MAPT	OMIM:168600
HP:0001276	Hypertonia	7384	UQCRC1	OMIM:619279
HP:0001276	Hypertonia	4311	MME	OMIM:617018
HP:0001276	Hypertonia	9256	TSPOAP1	ORPHA:101150
HP:0001276	Hypertonia	7054	TH	ORPHA:101150
HP:0001276	Hypertonia	7054	TH	OMIM:605407
HP:0001276	Hypertonia	27235	COQ2	OMIM:146500
HP:0001276	Hypertonia	27235	COQ2	ORPHA:98933
HP:0001276	Hypertonia	27235	COQ2	ORPHA:227510
HP:0001276	Hypertonia	57165	GJC2	OMIM:608804
HP:0001276	Hypertonia	4016	LOXL1	OMIM:177650
HP:0001276	Hypertonia	80347	COASY	OMIM:615643
HP:0001276	Hypertonia	10501	SEMA6B	OMIM:618876
HP:0001276	Hypertonia	137682	NDUFAF6	OMIM:618239
HP:0001276	Hypertonia	3939	LDHA	OMIM:612933
HP:0001276	Hypertonia	11152	WDR45	ORPHA:329284
HP:0001276	Hypertonia	11152	WDR45	OMIM:300894
HP:0001276	Hypertonia	1353	COX11	OMIM:620275
HP:0001276	Hypertonia	55572	FOXRED1	OMIM:618241
HP:0001276	Hypertonia	55037	PTCD3	OMIM:619057
HP:0001276	Hypertonia	55737	VPS35	OMIM:614203
HP:0001276	Hypertonia	55737	VPS35	ORPHA:411602
HP:0001276	Hypertonia	8622	PDE8B	OMIM:609161
HP:0001276	Hypertonia	8622	PDE8B	ORPHA:228169
HP:0001276	Hypertonia	23317	DNAJC13	ORPHA:411602
HP:0001276	Hypertonia	1981	EIF4G1	ORPHA:411602
HP:0001276	Hypertonia	1981	EIF4G1	OMIM:614251
HP:0001276	Hypertonia	6575	SLC20A2	OMIM:213600
HP:0001276	Hypertonia	5159	PDGFRB	OMIM:213600
HP:0001276	Hypertonia	5155	PDGFB	OMIM:213600
HP:0001276	Hypertonia	116442	RAB39B	OMIM:311510
HP:0001276	Hypertonia	116442	RAB39B	ORPHA:2379
HP:0001276	Hypertonia	2332	FMR1	ORPHA:93256
HP:0001276	Hypertonia	80856	LNPK	OMIM:618090
HP:0001276	Hypertonia	80821	DDHD1	ORPHA:101008
HP:0001276	Hypertonia	25953	PNKD	ORPHA:98810
HP:0001276	Hypertonia	57338	JPH3	OMIM:606438
HP:0001276	Hypertonia	339453	TMEM240	ORPHA:98773
HP:0001276	Hypertonia	26154	ABCA12	OMIM:242500
HP:0001276	Hypertonia	23259	DDHD2	OMIM:615033
HP:0001276	Hypertonia	4929	NR4A2	ORPHA:98808
HP:0001276	Hypertonia	4929	NR4A2	OMIM:619911
HP:0001276	Hypertonia	4929	NR4A2	OMIM:168600
HP:0001276	Hypertonia	3615	IMPDH2	ORPHA:98808
HP:0001276	Hypertonia	6507	SLC1A3	ORPHA:2131
HP:0001276	Hypertonia	6335	SCN9A	ORPHA:33069
HP:0001276	Hypertonia	2554	GABRA1	ORPHA:33069
HP:0001276	Hypertonia	57526	PCDH19	ORPHA:33069
HP:0001276	Hypertonia	5582	PRKCG	ORPHA:98763
HP:0001276	Hypertonia	128240	NAXE	OMIM:617186
HP:0001276	Hypertonia	1356	CP	ORPHA:48818
HP:0001276	Hypertonia	540	ATP7B	OMIM:277900
HP:0001276	Hypertonia	6261	RYR1	OMIM:145600
HP:0001276	Hypertonia	5524	PTPA	OMIM:620482
HP:0001276	Hypertonia	51142	CHCHD2	OMIM:616710
HP:0001276	Hypertonia	126	ADH1C	OMIM:168600
HP:0001276	Hypertonia	4576	MT-TT	OMIM:168600
HP:0001276	Hypertonia	9627	SNCAIP	OMIM:168600
HP:0001276	Hypertonia	9897	WASHC5	ORPHA:100989
HP:0001276	Hypertonia	9897	WASHC5	OMIM:603563
HP:0001276	Hypertonia	324	APC	ORPHA:261584
HP:0001276	Hypertonia	123606	NIPA1	OMIM:600363
HP:0001276	Hypertonia	57156	TMEM63C	OMIM:619966
HP:0001276	Hypertonia	9197	SLC33A1	OMIM:612539
HP:0001276	Hypertonia	9197	SLC33A1	ORPHA:171863
HP:0001276	Hypertonia	51204	TACO1	OMIM:619052
HP:0001276	Hypertonia	11145	PLAAT3	OMIM:620683
HP:0001276	Hypertonia	25778	DSTYK	ORPHA:101003
HP:0001276	Hypertonia	9420	CYP7B1	OMIM:270800
HP:0001276	Hypertonia	9907	AP5Z1	OMIM:613647
HP:0001276	Hypertonia	9907	AP5Z1	ORPHA:306511
HP:0001276	Hypertonia	9895	TECPR2	OMIM:615031
HP:0001276	Hypertonia	84879	MFSD2A	OMIM:616486
HP:0001276	Hypertonia	80232	WDR26	OMIM:617616
HP:0001276	Hypertonia	22978	NT5C2	ORPHA:320396
HP:0001276	Hypertonia	22978	NT5C2	OMIM:613162
HP:0001276	Hypertonia	6472	SHMT2	OMIM:619121
HP:0001276	Hypertonia	6253	RTN2	OMIM:604805
HP:0001276	Hypertonia	6253	RTN2	ORPHA:100993
HP:0001276	Hypertonia	3329	HSPD1	OMIM:605280
HP:0001276	Hypertonia	3329	HSPD1	ORPHA:100994
HP:0001276	Hypertonia	383	ARG1	OMIM:207800
HP:0001276	Hypertonia	51663	ZFR	ORPHA:401840
HP:0001276	Hypertonia	51271	UBAP1	ORPHA:100993
HP:0001276	Hypertonia	126129	CPT1C	ORPHA:444099
HP:0001276	Hypertonia	3839	KPNA3	ORPHA:171612
HP:0001276	Hypertonia	113612	CYP2U1	ORPHA:320411
HP:0001276	Hypertonia	171546	SPTSSA	OMIM:620416
HP:0001276	Hypertonia	2583	B4GALNT1	OMIM:609195
HP:0001276	Hypertonia	3798	KIF5A	OMIM:604187
HP:0001276	Hypertonia	4337	MOCS1	OMIM:252150
HP:0001276	Hypertonia	55610	VPS50	OMIM:619685
HP:0001276	Hypertonia	259266	ASPM	OMIM:608716
HP:0001276	Hypertonia	5048	PAFAH1B1	ORPHA:95232
HP:0001276	Hypertonia	79587	CARS2	OMIM:616672
HP:0001276	Hypertonia	5332	PLCB4	OMIM:620458
HP:0001276	Hypertonia	594	BCKDHB	OMIM:620698
HP:0001276	Hypertonia	1629	DBT	OMIM:620699
HP:0001276	Hypertonia	9900	SV2A	OMIM:620772
HP:0001276	Hypertonia	85465	SELENOI	ORPHA:506353
HP:0001276	Hypertonia	129685	TAF8	OMIM:619972
HP:0001276	Hypertonia	10943	MSL3	OMIM:301032
HP:0001276	Hypertonia	84265	POLR3GL	OMIM:619234
HP:0001276	Hypertonia	54902	TTC19	OMIM:615157
HP:0001276	Hypertonia	3425	IDUA	ORPHA:93474
HP:0001276	Hypertonia	3425	IDUA	ORPHA:93473
HP:0001276	Hypertonia	440193	CCDC88C	OMIM:616053
HP:0001276	Hypertonia	440193	CCDC88C	ORPHA:423275
HP:0001276	Hypertonia	3145	HMBS	OMIM:620711
HP:0001276	Hypertonia	1910	EDNRB	OMIM:277580
HP:0001276	Hypertonia	93587	TRMT10A	ORPHA:391408
HP:0001276	Hypertonia	686	BTD	ORPHA:79241
HP:0001276	Hypertonia	23389	MED13L	ORPHA:369891
HP:0001276	Hypertonia	3752	KCND3	ORPHA:98772
HP:0001276	Hypertonia	3752	KCND3	OMIM:607346
HP:0001276	Hypertonia	1600	DAB1	ORPHA:363710
HP:0001276	Hypertonia	7084	TK2	ORPHA:254886
HP:0001276	Hypertonia	3781	KCNN2	OMIM:619725
HP:0001276	Hypertonia	87178	PNPT1	ORPHA:101111
HP:0001276	Hypertonia	55775	TDP1	ORPHA:94124
HP:0001276	Hypertonia	2705	GJB1	ORPHA:1175
HP:0001276	Hypertonia	492	ATP2B3	ORPHA:314978
HP:0001276	Hypertonia	340075	ARSI	ORPHA:401815
HP:0001276	Hypertonia	57498	KIDINS220	OMIM:617296
HP:0001276	Hypertonia	56006	SMG9	OMIM:616920
HP:0001276	Hypertonia	26128	KIFBP	OMIM:609460
HP:0001276	Hypertonia	1317	SLC31A1	OMIM:620306
HP:0001276	Hypertonia	3098	HK1	OMIM:618547
HP:0001276	Hypertonia	55325	UFSP2	OMIM:620028
HP:0001276	Hypertonia	80222	TARS2	OMIM:615918
HP:0001276	Hypertonia	1161	ERCC8	ORPHA:90322
HP:0001276	Hypertonia	111	ADCY5	OMIM:606703
HP:0001276	Hypertonia	111	ADCY5	ORPHA:324588
HP:0001276	Hypertonia	2258	FGF13	OMIM:301058
HP:0001276	Hypertonia	51611	DPH5	OMIM:620070
HP:0001276	Hypertonia	5631	PRPS1	ORPHA:423479
HP:0001276	Hypertonia	2972	BRF1	ORPHA:444072
HP:0001276	Hypertonia	64801	ARV1	OMIM:617020
HP:0001276	Hypertonia	9578	CDC42BPB	OMIM:619841
HP:0001276	Hypertonia	1644	DDC	ORPHA:35708
HP:0001276	Hypertonia	1644	DDC	OMIM:608643
HP:0001276	Hypertonia	2782	GNB1	ORPHA:488613
HP:0001276	Hypertonia	2782	GNB1	OMIM:616973
HP:0001276	Hypertonia	23310	NCAPD3	OMIM:617984
HP:0001276	Hypertonia	157922	CAMSAP1	OMIM:620316
HP:0001276	Hypertonia	23065	EMC1	ORPHA:480898
HP:0001276	Hypertonia	23065	EMC1	OMIM:616875
HP:0001276	Hypertonia	60386	SLC25A19	OMIM:607196
HP:0001276	Hypertonia	60386	SLC25A19	ORPHA:99742
HP:0001276	Hypertonia	55252	ASXL2	OMIM:617190
HP:0001276	Hypertonia	9101	USP8	ORPHA:401795
HP:0001276	Hypertonia	25839	COG4	ORPHA:263501
HP:0001276	Hypertonia	25839	COG4	OMIM:613489
HP:0001276	Hypertonia	23221	RHOBTB2	OMIM:618004
HP:0001276	Hypertonia	4704	NDUFA9	OMIM:618247
HP:0001276	Hypertonia	10463	SLC30A9	OMIM:617595
HP:0001276	Hypertonia	400569	MED11	OMIM:620327
HP:0001276	Hypertonia	5095	PCCA	OMIM:606054
HP:0001276	Hypertonia	5096	PCCB	OMIM:606054
HP:0001276	Hypertonia	2898	GRIK2	OMIM:619580
HP:0001276	Hypertonia	57599	WDR48	ORPHA:401800
HP:0001276	Hypertonia	56945	MRPS22	OMIM:611719
HP:0001276	Hypertonia	29078	NDUFAF4	OMIM:618237
HP:0001276	Hypertonia	79709	COLGALT1	OMIM:618360
HP:0001276	Hypertonia	535	ATP6V0A1	OMIM:619971
HP:0001276	Hypertonia	22796	COG2	OMIM:617395
HP:0001276	Hypertonia	22796	COG2	ORPHA:435934
HP:0001276	Hypertonia	100131801	PET100	OMIM:619055
HP:0001276	Hypertonia	7283	TUBG1	OMIM:615412
HP:0001276	Hypertonia	1778	DYNC1H1	OMIM:614563
HP:0001276	Hypertonia	3796	KIF2A	OMIM:615411
HP:0001276	Hypertonia	123263	MTFMT	OMIM:618248
HP:0001276	Hypertonia	170825	GSX2	OMIM:618646
HP:0001276	Hypertonia	1193	CLIC2	ORPHA:324410
HP:0001276	Hypertonia	11019	LIAS	OMIM:614462
HP:0001276	Hypertonia	5700	PSMC1	OMIM:620071
HP:0001276	Hypertonia	55739	NAXD	OMIM:618321
HP:0001276	Hypertonia	777	CACNA1E	OMIM:618285
HP:0001276	Hypertonia	200205	IBA57	OMIM:615330
HP:0001276	Hypertonia	1284	COL4A2	OMIM:614483
HP:0001276	Hypertonia	2806	GOT2	OMIM:618721
HP:0001276	Hypertonia	51294	PCDH12	OMIM:251280
HP:0001276	Hypertonia	23189	KANK1	OMIM:612900
HP:0001276	Hypertonia	2055	CLN8	ORPHA:1947
HP:0001276	Hypertonia	57192	MCOLN1	OMIM:252650
HP:0001276	Hypertonia	55770	EXOC2	OMIM:619306
HP:0001276	Hypertonia	10695	CNPY3	OMIM:617929
HP:0001276	Hypertonia	55149	MTPAP	OMIM:613672
HP:0001276	Hypertonia	55149	MTPAP	ORPHA:254343
HP:0001276	Hypertonia	7994	KAT6A	OMIM:616268
HP:0001276	Hypertonia	3930	LBR	OMIM:169400
HP:0001276	Hypertonia	23028	KDM1A	OMIM:616728
HP:0001276	Hypertonia	23028	KDM1A	ORPHA:477993
HP:0001276	Hypertonia	171023	ASXL1	ORPHA:97297
HP:0001276	Hypertonia	5917	RARS1	ORPHA:438114
HP:0001276	Hypertonia	79152	FA2H	ORPHA:171629
HP:0001276	Hypertonia	5010	CLDN11	OMIM:619328
HP:0001276	Hypertonia	137492	VPS37A	OMIM:614898
HP:0001276	Hypertonia	55343	SLC35C1	ORPHA:99843
HP:0001276	Hypertonia	23769	FLRT1	ORPHA:320406
HP:0001276	Hypertonia	10367	MICU1	ORPHA:401768
HP:0001276	Hypertonia	10157	AASS	ORPHA:2203
HP:0001276	Hypertonia	197258	FCSK	OMIM:618324
HP:0001276	Hypertonia	160418	TMTC3	OMIM:617255
HP:0001276	Hypertonia	9255	AIMP1	OMIM:260600
HP:0001276	Hypertonia	57282	SLC4A10	OMIM:620746
HP:0001276	Hypertonia	819	CAMLG	OMIM:620201
HP:0001276	Hypertonia	84081	NSRP1	OMIM:620001
HP:0001276	Hypertonia	823	CAPN1	OMIM:616907
HP:0001276	Hypertonia	55331	ACER3	OMIM:617762
HP:0001276	Hypertonia	1822	ATN1	OMIM:618494
HP:0001276	Hypertonia	54676	GTPBP2	OMIM:617988
HP:0001276	Hypertonia	79736	TEFM	OMIM:620451
HP:0001276	Hypertonia	283450	HECTD4	OMIM:620250
HP:0001278	Orthostatic hypotension	1534	CYB561	OMIM:618182
HP:0001278	Orthostatic hypotension	8518	ELP1	OMIM:223900
HP:0001278	Orthostatic hypotension	8518	ELP1	ORPHA:1764
HP:0001278	Orthostatic hypotension	6622	SNCA	OMIM:605543
HP:0001278	Orthostatic hypotension	1621	DBH	ORPHA:230
HP:0001278	Orthostatic hypotension	1621	DBH	OMIM:223360
HP:0001278	Orthostatic hypotension	1136	CHRNA3	OMIM:191800
HP:0001278	Orthostatic hypotension	29926	GMPPA	OMIM:615510
HP:0001278	Orthostatic hypotension	1585	CYP11B2	OMIM:610600
HP:0001278	Orthostatic hypotension	1585	CYP11B2	ORPHA:556030
HP:0001278	Orthostatic hypotension	538	ATP7A	OMIM:304150
HP:0001278	Orthostatic hypotension	84320	ACBD6	OMIM:620785
HP:0001278	Orthostatic hypotension	27235	COQ2	OMIM:146500
HP:0001278	Orthostatic hypotension	8086	AAAS	OMIM:231550
HP:0001278	Orthostatic hypotension	1277	COL1A1	ORPHA:287
HP:0001278	Orthostatic hypotension	1289	COL5A1	ORPHA:287
HP:0001278	Orthostatic hypotension	1290	COL5A2	ORPHA:287
HP:0001278	Orthostatic hypotension	2632	GBE1	OMIM:263570
HP:0001278	Orthostatic hypotension	857	CAV1	OMIM:606721
HP:0001278	Orthostatic hypotension	3594	IL12RB1	ORPHA:186
HP:0001278	Orthostatic hypotension	23534	TNPO3	ORPHA:186
HP:0001278	Orthostatic hypotension	3592	IL12A	ORPHA:186
HP:0001278	Orthostatic hypotension	6689	SPIB	ORPHA:186
HP:0001278	Orthostatic hypotension	5450	POU2AF1	ORPHA:186
HP:0001278	Orthostatic hypotension	9966	TNFSF15	ORPHA:186
HP:0001278	Orthostatic hypotension	79258	MMEL1	ORPHA:186
HP:0001278	Orthostatic hypotension	3663	IRF5	ORPHA:186
HP:0001278	Orthostatic hypotension	3074	HEXB	OMIM:268800
HP:0001278	Orthostatic hypotension	6288	SAA1	ORPHA:85445
HP:0001278	Orthostatic hypotension	51142	CHCHD2	OMIM:616710
HP:0001278	Orthostatic hypotension	80208	SPG11	ORPHA:2822
HP:0001278	Orthostatic hypotension	567	B2M	OMIM:620659
HP:0001278	Orthostatic hypotension	4001	LMNB1	ORPHA:99027
HP:0001278	Orthostatic hypotension	2934	GSN	OMIM:105120
HP:0001278	Orthostatic hypotension	4914	NTRK1	ORPHA:642
HP:0001278	Orthostatic hypotension	410	ARSA	ORPHA:309271
HP:0001278	Orthostatic hypotension	5660	PSAP	ORPHA:309271
HP:0001278	Orthostatic hypotension	3953	LEPR	ORPHA:179494
HP:0001278	Orthostatic hypotension	2629	GBA1	ORPHA:411602
HP:0001278	Orthostatic hypotension	23317	DNAJC13	ORPHA:411602
HP:0001278	Orthostatic hypotension	1981	EIF4G1	ORPHA:411602
HP:0001278	Orthostatic hypotension	55737	VPS35	ORPHA:411602
HP:0001278	Orthostatic hypotension	120892	LRRK2	ORPHA:411602
HP:0001278	Orthostatic hypotension	26058	GIGYF2	ORPHA:411602
HP:0001278	Orthostatic hypotension	3952	LEP	ORPHA:66628
HP:0001278	Orthostatic hypotension	7276	TTR	OMIM:105210
HP:0001278	Orthostatic hypotension	6492	SIM1	ORPHA:369873
HP:0001279	Syncope	4352	MPL	ORPHA:71493
HP:0001279	Syncope	7066	THPO	ORPHA:71493
HP:0001279	Syncope	3717	JAK2	ORPHA:71493
HP:0001279	Syncope	4000	LMNA	ORPHA:300751
HP:0001279	Syncope	4000	LMNA	OMIM:181350
HP:0001279	Syncope	9992	KCNE2	OMIM:613693
HP:0001279	Syncope	9992	KCNE2	ORPHA:334
HP:0001279	Syncope	9992	KCNE2	ORPHA:101016
HP:0001279	Syncope	253017	TECRL	OMIM:614021
HP:0001279	Syncope	253017	TECRL	ORPHA:3286
HP:0001279	Syncope	3753	KCNE1	OMIM:613695
HP:0001279	Syncope	3753	KCNE1	ORPHA:334
HP:0001279	Syncope	3753	KCNE1	ORPHA:101016
HP:0001279	Syncope	3753	KCNE1	ORPHA:90647
HP:0001279	Syncope	3753	KCNE1	OMIM:612347
HP:0001279	Syncope	5663	PSEN1	OMIM:613694
HP:0001279	Syncope	5664	PSEN2	OMIM:613697
HP:0001279	Syncope	171023	ASXL1	ORPHA:98849
HP:0001279	Syncope	54790	TET2	ORPHA:98849
HP:0001279	Syncope	3815	KIT	ORPHA:98849
HP:0001279	Syncope	6427	SRSF2	ORPHA:98849
HP:0001279	Syncope	3757	KCNH2	OMIM:609620
HP:0001279	Syncope	3757	KCNH2	ORPHA:101016
HP:0001279	Syncope	3757	KCNH2	ORPHA:51083
HP:0001279	Syncope	3757	KCNH2	OMIM:613688
HP:0001279	Syncope	3784	KCNQ1	OMIM:609621
HP:0001279	Syncope	3784	KCNQ1	OMIM:192500
HP:0001279	Syncope	3784	KCNQ1	OMIM:607554
HP:0001279	Syncope	3784	KCNQ1	ORPHA:334
HP:0001279	Syncope	3784	KCNQ1	ORPHA:101016
HP:0001279	Syncope	3784	KCNQ1	OMIM:220400
HP:0001279	Syncope	3784	KCNQ1	ORPHA:51083
HP:0001279	Syncope	3784	KCNQ1	ORPHA:90647
HP:0001279	Syncope	10021	HCN4	OMIM:163800
HP:0001279	Syncope	10021	HCN4	ORPHA:130
HP:0001279	Syncope	3728	JUP	OMIM:601214
HP:0001279	Syncope	3728	JUP	OMIM:611528
HP:0001279	Syncope	70	ACTC1	OMIM:612098
HP:0001279	Syncope	70	ACTC1	ORPHA:99103
HP:0001279	Syncope	287	ANK2	OMIM:600919
HP:0001279	Syncope	287	ANK2	ORPHA:101016
HP:0001279	Syncope	3759	KCNJ2	OMIM:613980
HP:0001279	Syncope	3759	KCNJ2	ORPHA:334
HP:0001279	Syncope	3759	KCNJ2	OMIM:170390
HP:0001279	Syncope	3759	KCNJ2	ORPHA:51083
HP:0001279	Syncope	3759	KCNJ2	ORPHA:37553
HP:0001279	Syncope	1824	DSC2	OMIM:610476
HP:0001279	Syncope	6833	ABCC8	ORPHA:276575
HP:0001279	Syncope	100996717	NOTCH2NLC	OMIM:603472
HP:0001279	Syncope	3767	KCNJ11	ORPHA:276580
HP:0001279	Syncope	54795	TRPM4	OMIM:604559
HP:0001279	Syncope	54795	TRPM4	ORPHA:871
HP:0001279	Syncope	54795	TRPM4	ORPHA:130
HP:0001279	Syncope	2702	GJA5	ORPHA:334
HP:0001279	Syncope	3760	KCNJ3	ORPHA:334
HP:0001279	Syncope	3762	KCNJ5	ORPHA:334
HP:0001279	Syncope	3762	KCNJ5	ORPHA:101016
HP:0001279	Syncope	3762	KCNJ5	OMIM:613485
HP:0001279	Syncope	3762	KCNJ5	ORPHA:37553
HP:0001279	Syncope	4635	MYL4	ORPHA:334
HP:0001279	Syncope	1482	NKX2-5	ORPHA:334
HP:0001279	Syncope	1482	NKX2-5	ORPHA:871
HP:0001279	Syncope	1482	NKX2-5	ORPHA:99103
HP:0001279	Syncope	10060	ABCC9	ORPHA:334
HP:0001279	Syncope	10060	ABCC9	ORPHA:130
HP:0001279	Syncope	137814	NKX2-6	ORPHA:334
HP:0001279	Syncope	4878	NPPA	ORPHA:334
HP:0001279	Syncope	4878	NPPA	ORPHA:1344
HP:0001279	Syncope	55800	SCN3B	ORPHA:334
HP:0001279	Syncope	55800	SCN3B	ORPHA:130
HP:0001279	Syncope	2626	GATA4	ORPHA:334
HP:0001279	Syncope	2626	GATA4	ORPHA:99103
HP:0001279	Syncope	2627	GATA6	ORPHA:334
HP:0001279	Syncope	2627	GATA6	ORPHA:99103
HP:0001279	Syncope	5308	PITX2	ORPHA:334
HP:0001279	Syncope	6327	SCN2B	ORPHA:334
HP:0001279	Syncope	6327	SCN2B	ORPHA:130
HP:0001279	Syncope	140628	GATA5	ORPHA:334
HP:0001279	Syncope	6324	SCN1B	ORPHA:334
HP:0001279	Syncope	6324	SCN1B	ORPHA:871
HP:0001279	Syncope	6324	SCN1B	ORPHA:130
HP:0001279	Syncope	6331	SCN5A	ORPHA:334
HP:0001279	Syncope	6331	SCN5A	ORPHA:101016
HP:0001279	Syncope	6331	SCN5A	ORPHA:1344
HP:0001279	Syncope	6331	SCN5A	OMIM:601154
HP:0001279	Syncope	6331	SCN5A	OMIM:113900
HP:0001279	Syncope	6331	SCN5A	ORPHA:871
HP:0001279	Syncope	6331	SCN5A	OMIM:601144
HP:0001279	Syncope	6331	SCN5A	OMIM:603830
HP:0001279	Syncope	6331	SCN5A	ORPHA:130
HP:0001279	Syncope	6331	SCN5A	OMIM:603829
HP:0001279	Syncope	6330	SCN4B	ORPHA:334
HP:0001279	Syncope	6330	SCN4B	ORPHA:101016
HP:0001279	Syncope	3741	KCNA5	ORPHA:334
HP:0001279	Syncope	7273	TTN	ORPHA:334
HP:0001279	Syncope	9631	NUP155	ORPHA:334
HP:0001279	Syncope	801	CALM1	ORPHA:101016
HP:0001279	Syncope	801	CALM1	OMIM:614916
HP:0001279	Syncope	801	CALM1	ORPHA:3286
HP:0001279	Syncope	805	CALM2	ORPHA:101016
HP:0001279	Syncope	805	CALM2	OMIM:616249
HP:0001279	Syncope	805	CALM2	ORPHA:3286
HP:0001279	Syncope	6910	TBX5	ORPHA:101016
HP:0001279	Syncope	6336	SCN10A	ORPHA:101016
HP:0001279	Syncope	6336	SCN10A	ORPHA:130
HP:0001279	Syncope	10142	AKAP9	ORPHA:101016
HP:0001279	Syncope	10142	AKAP9	ORPHA:130
HP:0001279	Syncope	10142	AKAP9	OMIM:611820
HP:0001279	Syncope	9722	NOS1AP	ORPHA:101016
HP:0001279	Syncope	775	CACNA1C	ORPHA:101016
HP:0001279	Syncope	775	CACNA1C	OMIM:611875
HP:0001279	Syncope	775	CACNA1C	ORPHA:130
HP:0001279	Syncope	775	CACNA1C	OMIM:618447
HP:0001279	Syncope	10345	TRDN	ORPHA:101016
HP:0001279	Syncope	10345	TRDN	OMIM:604772
HP:0001279	Syncope	10345	TRDN	OMIM:615441
HP:0001279	Syncope	10345	TRDN	ORPHA:3286
HP:0001279	Syncope	808	CALM3	ORPHA:101016
HP:0001279	Syncope	808	CALM3	ORPHA:3286
HP:0001279	Syncope	6640	SNTA1	ORPHA:101016
HP:0001279	Syncope	6640	SNTA1	OMIM:612955
HP:0001279	Syncope	859	CAV3	ORPHA:101016
HP:0001279	Syncope	859	CAV3	OMIM:611818
HP:0001279	Syncope	79572	ATP13A3	OMIM:265400
HP:0001279	Syncope	5318	PKP2	OMIM:609040
HP:0001279	Syncope	5318	PKP2	ORPHA:130
HP:0001279	Syncope	2006	ELN	ORPHA:3193
HP:0001279	Syncope	2783	GNB2	OMIM:619464
HP:0001279	Syncope	7134	TNNC1	OMIM:613243
HP:0001279	Syncope	1832	DSP	OMIM:615821
HP:0001279	Syncope	9152	SLC6A5	OMIM:614618
HP:0001279	Syncope	781	CACNA2D1	ORPHA:51083
HP:0001279	Syncope	781	CACNA2D1	ORPHA:130
HP:0001279	Syncope	6508	SLC4A3	ORPHA:51083
HP:0001279	Syncope	6508	SLC4A3	OMIM:620231
HP:0001279	Syncope	7092	TLL1	ORPHA:99106
HP:0001279	Syncope	7092	TLL1	ORPHA:99103
HP:0001279	Syncope	57057	TBX20	ORPHA:99103
HP:0001279	Syncope	4624	MYH6	ORPHA:99103
HP:0001279	Syncope	10370	CITED2	ORPHA:99103
HP:0001279	Syncope	1621	DBH	ORPHA:230
HP:0001279	Syncope	4607	MYBPC3	OMIM:115197
HP:0001279	Syncope	4607	MYBPC3	OMIM:615396
HP:0001279	Syncope	51422	PRKAG2	OMIM:600858
HP:0001279	Syncope	51422	PRKAG2	OMIM:194200
HP:0001279	Syncope	8314	BAP1	ORPHA:2495
HP:0001279	Syncope	4771	NF2	ORPHA:2495
HP:0001279	Syncope	6598	SMARCB1	ORPHA:2495
HP:0001279	Syncope	5155	PDGFB	ORPHA:2495
HP:0001279	Syncope	84231	TRAF7	ORPHA:2495
HP:0001279	Syncope	6608	SMO	ORPHA:2495
HP:0001279	Syncope	207	AKT1	ORPHA:2495
HP:0001279	Syncope	5290	PIK3CA	ORPHA:2495
HP:0001279	Syncope	7015	TERT	ORPHA:2495
HP:0001279	Syncope	51684	SUFU	ORPHA:2495
HP:0001279	Syncope	6605	SMARCE1	ORPHA:2495
HP:0001279	Syncope	783	CACNB2	OMIM:611876
HP:0001279	Syncope	783	CACNB2	ORPHA:130
HP:0001279	Syncope	84665	MYPN	ORPHA:75249
HP:0001279	Syncope	2318	FLNC	ORPHA:75249
HP:0001279	Syncope	7139	TNNT2	ORPHA:75249
HP:0001279	Syncope	7137	TNNI3	ORPHA:75249
HP:0001279	Syncope	10112	KIF20A	ORPHA:75249
HP:0001279	Syncope	845	CASQ2	OMIM:604772
HP:0001279	Syncope	845	CASQ2	ORPHA:3286
HP:0001279	Syncope	845	CASQ2	OMIM:611938
HP:0001279	Syncope	6262	RYR2	OMIM:604772
HP:0001279	Syncope	6262	RYR2	ORPHA:3286
HP:0001279	Syncope	11149	POPDC1	OMIM:616812
HP:0001279	Syncope	23630	KCNE5	ORPHA:130
HP:0001279	Syncope	10371	SEMA3A	ORPHA:130
HP:0001279	Syncope	3764	KCNJ8	ORPHA:130
HP:0001279	Syncope	3752	KCND3	ORPHA:130
HP:0001279	Syncope	7871	SLMAP	ORPHA:130
HP:0001279	Syncope	29098	RANGRF	ORPHA:130
HP:0001279	Syncope	10008	KCNE3	ORPHA:130
HP:0001279	Syncope	6337	SCNN1A	ORPHA:130
HP:0001279	Syncope	23171	GPD1L	ORPHA:130
HP:0001279	Syncope	23171	GPD1L	OMIM:611777
HP:0001279	Syncope	1512	CTSH	ORPHA:2073
HP:0001279	Syncope	5032	P2RY11	ORPHA:2073
HP:0001279	Syncope	4340	MOG	ORPHA:2073
HP:0001279	Syncope	3119	HLA-DQB1	ORPHA:2073
HP:0001279	Syncope	3060	HCRT	ORPHA:2073
HP:0001279	Syncope	22891	ZNF365	ORPHA:2073
HP:0001279	Syncope	7292	TNFSF4	ORPHA:2073
HP:0001279	Syncope	3123	HLA-DRB1	ORPHA:2073
HP:0001279	Syncope	54941	RNF125	OMIM:616260
HP:0001279	Syncope	3920	LAMP2	OMIM:300257
HP:0001279	Syncope	51778	MYOZ2	OMIM:613838
HP:0001279	Syncope	4914	NTRK1	ORPHA:642
HP:0001279	Syncope	6927	HNF1A	ORPHA:324575
HP:0001279	Syncope	776	CACNA1D	OMIM:614896
HP:0001279	Syncope	144245	ALG10B	OMIM:613688
HP:0001279	Syncope	7351	UCP2	ORPHA:276556
HP:0001279	Syncope	1188	CLCNKB	ORPHA:358
HP:0001279	Syncope	6559	SLC12A3	ORPHA:358
HP:0001279	Syncope	27235	COQ2	ORPHA:227510
HP:0001279	Syncope	27235	COQ2	ORPHA:98933
HP:0001279	Syncope	4247	MGAT2	ORPHA:79329
HP:0007700	Ocular anterior segment dysgenesis	2074	ERCC6	OMIM:133540
HP:0007700	Ocular anterior segment dysgenesis	2074	ERCC6	ORPHA:90322
HP:0007700	Ocular anterior segment dysgenesis	9361	LONP1	OMIM:600373
HP:0007700	Ocular anterior segment dysgenesis	64374	SIL1	OMIM:248800
HP:0007700	Ocular anterior segment dysgenesis	1409	CRYAA	OMIM:604219
HP:0007700	Ocular anterior segment dysgenesis	27183	VPS4A	OMIM:619273
HP:0007700	Ocular anterior segment dysgenesis	406987	MIR204	OMIM:616722
HP:0007700	Ocular anterior segment dysgenesis	55654	TMEM127	OMIM:171300
HP:0007700	Ocular anterior segment dysgenesis	4149	MAX	OMIM:171300
HP:0007700	Ocular anterior segment dysgenesis	5979	RET	OMIM:171300
HP:0007700	Ocular anterior segment dysgenesis	7428	VHL	OMIM:171300
HP:0007700	Ocular anterior segment dysgenesis	652	BMP4	ORPHA:828
HP:0007700	Ocular anterior segment dysgenesis	5832	ALDH18A1	OMIM:616603
HP:0007700	Ocular anterior segment dysgenesis	5832	ALDH18A1	ORPHA:90348
HP:0007700	Ocular anterior segment dysgenesis	5832	ALDH18A1	ORPHA:447757
HP:0007700	Ocular anterior segment dysgenesis	5832	ALDH18A1	ORPHA:447753
HP:0007700	Ocular anterior segment dysgenesis	79903	NAA60	OMIM:620786
HP:0007700	Ocular anterior segment dysgenesis	4693	NDP	ORPHA:91495
HP:0007700	Ocular anterior segment dysgenesis	220202	ATOH7	ORPHA:91495
HP:0007700	Ocular anterior segment dysgenesis	8322	FZD4	ORPHA:91495
HP:0007700	Ocular anterior segment dysgenesis	2671	GFER	ORPHA:330054
HP:0007700	Ocular anterior segment dysgenesis	2671	GFER	OMIM:613076
HP:0007700	Ocular anterior segment dysgenesis	1417	CRYBB3	OMIM:609741
HP:0007700	Ocular anterior segment dysgenesis	1161	ERCC8	ORPHA:90322
HP:0007700	Ocular anterior segment dysgenesis	2067	ERCC1	ORPHA:90322
HP:0007700	Ocular anterior segment dysgenesis	10093	ARPC4	OMIM:620141
HP:0007700	Ocular anterior segment dysgenesis	1411	CRYBA1	OMIM:600881
HP:0007700	Ocular anterior segment dysgenesis	1421	CRYGD	OMIM:115700
HP:0007700	Ocular anterior segment dysgenesis	9150	CTDP1	OMIM:604168
HP:0007700	Ocular anterior segment dysgenesis	23094	SIPA1L3	OMIM:616851
HP:0007700	Ocular anterior segment dysgenesis	25782	RAB3GAP2	OMIM:212720
HP:0007700	Ocular anterior segment dysgenesis	25782	RAB3GAP2	OMIM:614225
HP:0007700	Ocular anterior segment dysgenesis	1287	COL4A5	OMIM:301050
HP:0007700	Ocular anterior segment dysgenesis	2068	ERCC2	OMIM:610756
HP:0007700	Ocular anterior segment dysgenesis	2068	ERCC2	ORPHA:33364
HP:0007700	Ocular anterior segment dysgenesis	10073	SNUPN	OMIM:620793
HP:0007700	Ocular anterior segment dysgenesis	3417	IDH1	ORPHA:99646
HP:0007700	Ocular anterior segment dysgenesis	87178	PNPT1	ORPHA:319514
HP:0007700	Ocular anterior segment dysgenesis	4574	MT-TS1	OMIM:540000
HP:0007700	Ocular anterior segment dysgenesis	4575	MT-TS2	OMIM:540000
HP:0007700	Ocular anterior segment dysgenesis	4535	MT-ND1	OMIM:540000
HP:0007700	Ocular anterior segment dysgenesis	4567	MT-TL1	OMIM:540000
HP:0007700	Ocular anterior segment dysgenesis	4512	MT-CO1	OMIM:540000
HP:0007700	Ocular anterior segment dysgenesis	4513	MT-CO2	OMIM:540000
HP:0007700	Ocular anterior segment dysgenesis	4514	MT-CO3	OMIM:540000
HP:0007700	Ocular anterior segment dysgenesis	4519	MT-CYB	OMIM:540000
HP:0007700	Ocular anterior segment dysgenesis	4511	MT-TC	OMIM:540000
HP:0007700	Ocular anterior segment dysgenesis	4572	MT-TQ	OMIM:540000
HP:0007700	Ocular anterior segment dysgenesis	4577	MT-TV	OMIM:540000
HP:0007700	Ocular anterior segment dysgenesis	4578	MT-TW	OMIM:540000
HP:0007700	Ocular anterior segment dysgenesis	4558	MT-TF	OMIM:540000
HP:0007700	Ocular anterior segment dysgenesis	4566	MT-TK	OMIM:540000
HP:0007700	Ocular anterior segment dysgenesis	4540	MT-ND5	OMIM:540000
HP:0007700	Ocular anterior segment dysgenesis	4541	MT-ND6	OMIM:540000
HP:0007700	Ocular anterior segment dysgenesis	4810	NHS	OMIM:302350
HP:0007700	Ocular anterior segment dysgenesis	57589	RIC1	OMIM:618761
HP:0007700	Ocular anterior segment dysgenesis	22930	RAB3GAP1	OMIM:600118
HP:0007700	Ocular anterior segment dysgenesis	22930	RAB3GAP1	OMIM:619420
HP:0007700	Ocular anterior segment dysgenesis	284058	KANSL1	ORPHA:363958
HP:0007700	Ocular anterior segment dysgenesis	284058	KANSL1	ORPHA:363965
HP:0007700	Ocular anterior segment dysgenesis	23511	NUP188	OMIM:618804
HP:0007700	Ocular anterior segment dysgenesis	81857	MED25	ORPHA:464738
HP:0007700	Ocular anterior segment dysgenesis	55699	IARS2	ORPHA:436174
HP:0007700	Ocular anterior segment dysgenesis	4047	LSS	OMIM:616509
HP:0007700	Ocular anterior segment dysgenesis	55750	AGK	OMIM:212350
HP:0007700	Ocular anterior segment dysgenesis	55750	AGK	OMIM:614691
HP:0007700	Ocular anterior segment dysgenesis	5191	PEX7	OMIM:215100
HP:0007700	Ocular anterior segment dysgenesis	20	ABCA2	OMIM:618808
HP:0007700	Ocular anterior segment dysgenesis	3339	HSPG2	ORPHA:1865
HP:0007700	Ocular anterior segment dysgenesis	1420	CRYGC	OMIM:604307
HP:0007700	Ocular anterior segment dysgenesis	857	CAV1	OMIM:606721
HP:0007700	Ocular anterior segment dysgenesis	7086	TKT	OMIM:617044
HP:0007700	Ocular anterior segment dysgenesis	22872	SEC31A	OMIM:618651
HP:0007700	Ocular anterior segment dysgenesis	128637	TBC1D20	OMIM:615663
HP:0007700	Ocular anterior segment dysgenesis	1410	CRYAB	OMIM:613763
HP:0007700	Ocular anterior segment dysgenesis	55210	ATAD3A	OMIM:618810
HP:0007700	Ocular anterior segment dysgenesis	55210	ATAD3A	OMIM:617183
HP:0007700	Ocular anterior segment dysgenesis	84668	HYCC1	OMIM:610532
HP:0007700	Ocular anterior segment dysgenesis	84668	HYCC1	ORPHA:85163
HP:0007700	Ocular anterior segment dysgenesis	26227	PHGDH	ORPHA:79351
HP:0007700	Ocular anterior segment dysgenesis	26227	PHGDH	OMIM:601815
HP:0007700	Ocular anterior segment dysgenesis	4000	LMNA	ORPHA:79474
HP:0007700	Ocular anterior segment dysgenesis	57572	DOCK6	OMIM:614219
HP:0007700	Ocular anterior segment dysgenesis	4758	NEU1	ORPHA:93400
HP:0007700	Ocular anterior segment dysgenesis	1798	DPAGT1	ORPHA:86309
HP:0007700	Ocular anterior segment dysgenesis	1415	CRYBB2	OMIM:601547
HP:0007700	Ocular anterior segment dysgenesis	1969	EPHA2	OMIM:116600
HP:0007700	Ocular anterior segment dysgenesis	5702	PSMC3	OMIM:619354
HP:0007700	Ocular anterior segment dysgenesis	22931	RAB18	OMIM:614222
HP:0007700	Ocular anterior segment dysgenesis	9401	RECQL4	ORPHA:221016
HP:0007700	Ocular anterior segment dysgenesis	389692	MAFA	OMIM:147630
HP:0007700	Ocular anterior segment dysgenesis	9894	TELO2	ORPHA:488642
HP:0007700	Ocular anterior segment dysgenesis	8419	BFSP2	OMIM:611597
HP:0007700	Ocular anterior segment dysgenesis	1282	COL4A1	OMIM:175780
HP:0007700	Ocular anterior segment dysgenesis	4952	OCRL	OMIM:309000
HP:0007700	Ocular anterior segment dysgenesis	84992	PIGY	OMIM:616809
HP:0007700	Ocular anterior segment dysgenesis	23137	SMC5	OMIM:620185
HP:0007700	Ocular anterior segment dysgenesis	80781	COL18A1	OMIM:267750
HP:0007700	Ocular anterior segment dysgenesis	1412	CRYBA2	OMIM:115900
HP:0007700	Ocular anterior segment dysgenesis	284252	KCTD1	OMIM:181270
HP:0007700	Ocular anterior segment dysgenesis	54880	BCOR	OMIM:300166
HP:0007700	Ocular anterior segment dysgenesis	79813	EHMT1	ORPHA:261652
HP:0007700	Ocular anterior segment dysgenesis	58508	KMT2C	ORPHA:261652
HP:0007700	Ocular anterior segment dysgenesis	4094	MAF	ORPHA:1272
HP:0007700	Ocular anterior segment dysgenesis	4094	MAF	OMIM:601088
HP:0007700	Ocular anterior segment dysgenesis	953	ENTPD1	OMIM:615683
HP:0007700	Ocular anterior segment dysgenesis	57724	EPG5	OMIM:242840
HP:0007700	Ocular anterior segment dysgenesis	2651	GCNT2	OMIM:116700
HP:0007700	Ocular anterior segment dysgenesis	3739	KCNA4	OMIM:618284
HP:0007700	Ocular anterior segment dysgenesis	9197	SLC33A1	OMIM:614482
HP:0007700	Ocular anterior segment dysgenesis	9215	LARGE1	OMIM:613154
HP:0007700	Ocular anterior segment dysgenesis	5286	PIK3C2A	OMIM:618440
HP:0007700	Ocular anterior segment dysgenesis	5286	PIK3C2A	ORPHA:557003
HP:0007700	Ocular anterior segment dysgenesis	10585	POMT1	OMIM:613155
HP:0007700	Ocular anterior segment dysgenesis	2006	ELN	ORPHA:90348
HP:0007700	Ocular anterior segment dysgenesis	10516	FBLN5	ORPHA:90348
HP:0007700	Ocular anterior segment dysgenesis	8799	PEX11B	OMIM:614920
HP:0007700	Ocular anterior segment dysgenesis	63901	FAM111A	OMIM:127000
HP:0007700	Ocular anterior segment dysgenesis	63901	FAM111A	ORPHA:93325
HP:0007700	Ocular anterior segment dysgenesis	404672	GTF2H5	ORPHA:33364
HP:0007700	Ocular anterior segment dysgenesis	404672	GTF2H5	OMIM:616395
HP:0007700	Ocular anterior segment dysgenesis	833	CARS1	ORPHA:33364
HP:0007700	Ocular anterior segment dysgenesis	7737	RNF113A	ORPHA:33364
HP:0007700	Ocular anterior segment dysgenesis	136647	MPLKIP	ORPHA:33364
HP:0007700	Ocular anterior segment dysgenesis	6897	TARS1	ORPHA:33364
HP:0007700	Ocular anterior segment dysgenesis	16	AARS1	ORPHA:33364
HP:0007700	Ocular anterior segment dysgenesis	2071	ERCC3	ORPHA:33364
HP:0007700	Ocular anterior segment dysgenesis	2961	GTF2E2	ORPHA:33364
HP:0007700	Ocular anterior segment dysgenesis	5080	PAX6	OMIM:604229
HP:0007700	Ocular anterior segment dysgenesis	6138	RPL15	ORPHA:124
HP:0007700	Ocular anterior segment dysgenesis	6224	RPS20	ORPHA:124
HP:0007700	Ocular anterior segment dysgenesis	6165	RPL35A	ORPHA:124
HP:0007700	Ocular anterior segment dysgenesis	6132	RPL8	ORPHA:124
HP:0007700	Ocular anterior segment dysgenesis	6223	RPS19	ORPHA:124
HP:0007700	Ocular anterior segment dysgenesis	6232	RPS27	ORPHA:124
HP:0007700	Ocular anterior segment dysgenesis	55027	HEATR3	ORPHA:124
HP:0007700	Ocular anterior segment dysgenesis	6160	RPL31	ORPHA:124
HP:0007700	Ocular anterior segment dysgenesis	6201	RPS7	ORPHA:124
HP:0007700	Ocular anterior segment dysgenesis	6155	RPL27	ORPHA:124
HP:0007700	Ocular anterior segment dysgenesis	6234	RPS28	ORPHA:124
HP:0007700	Ocular anterior segment dysgenesis	6135	RPL11	ORPHA:124
HP:0007700	Ocular anterior segment dysgenesis	6229	RPS24	ORPHA:124
HP:0007700	Ocular anterior segment dysgenesis	6125	RPL5	ORPHA:124
HP:0007700	Ocular anterior segment dysgenesis	6204	RPS10	ORPHA:124
HP:0007700	Ocular anterior segment dysgenesis	2623	GATA1	ORPHA:124
HP:0007700	Ocular anterior segment dysgenesis	6133	RPL9	ORPHA:124
HP:0007700	Ocular anterior segment dysgenesis	6231	RPS26	ORPHA:124
HP:0007700	Ocular anterior segment dysgenesis	11224	RPL35	ORPHA:124
HP:0007700	Ocular anterior segment dysgenesis	6218	RPS17	ORPHA:124
HP:0007700	Ocular anterior segment dysgenesis	6154	RPL26	ORPHA:124
HP:0007700	Ocular anterior segment dysgenesis	6210	RPS15A	ORPHA:124
HP:0007700	Ocular anterior segment dysgenesis	90121	TSR2	ORPHA:124
HP:0007700	Ocular anterior segment dysgenesis	6141	RPL18	ORPHA:124
HP:0007700	Ocular anterior segment dysgenesis	6235	RPS29	ORPHA:124
HP:0007700	Ocular anterior segment dysgenesis	51816	ADA2	ORPHA:124
HP:0007700	Ocular anterior segment dysgenesis	1419	CRYGB	OMIM:615188
HP:0007700	Ocular anterior segment dysgenesis	7319	UBE2A	ORPHA:163956
HP:0007700	Ocular anterior segment dysgenesis	6307	MSMO1	OMIM:616834
HP:0007700	Ocular anterior segment dysgenesis	7439	BEST1	OMIM:193220
HP:0007700	Ocular anterior segment dysgenesis	1414	CRYBB1	OMIM:611544
HP:0007700	Ocular anterior segment dysgenesis	5830	PEX5	OMIM:616716
HP:0007700	Ocular anterior segment dysgenesis	2110	ETFDH	OMIM:231680
HP:0007700	Ocular anterior segment dysgenesis	2108	ETFA	OMIM:231680
HP:0007700	Ocular anterior segment dysgenesis	2109	ETFB	OMIM:231680
HP:0007700	Ocular anterior segment dysgenesis	84181	CHD6	ORPHA:2108
HP:0007700	Ocular anterior segment dysgenesis	64682	ANAPC1	ORPHA:221008
HP:0007700	Ocular anterior segment dysgenesis	57167	SALL4	ORPHA:233
HP:0007700	Ocular anterior segment dysgenesis	9935	MAFB	ORPHA:233
HP:0007700	Ocular anterior segment dysgenesis	1123	CHN1	ORPHA:233
HP:0007700	Ocular anterior segment dysgenesis	64840	PORCN	OMIM:305600
HP:0007700	Ocular anterior segment dysgenesis	197257	LDHD	OMIM:245450
HP:0007700	Ocular anterior segment dysgenesis	1743	DLST	ORPHA:29072
HP:0007700	Ocular anterior segment dysgenesis	4191	MDH2	ORPHA:29072
HP:0007700	Ocular anterior segment dysgenesis	6389	SDHA	ORPHA:29072
HP:0007700	Ocular anterior segment dysgenesis	23095	KIF1B	ORPHA:29072
HP:0007700	Ocular anterior segment dysgenesis	2271	FH	ORPHA:29072
HP:0007700	Ocular anterior segment dysgenesis	8402	SLC25A11	ORPHA:29072
HP:0007700	Ocular anterior segment dysgenesis	54949	SDHAF2	ORPHA:29072
HP:0007700	Ocular anterior segment dysgenesis	4763	NF1	ORPHA:29072
HP:0007700	Ocular anterior segment dysgenesis	6391	SDHC	ORPHA:29072
HP:0007700	Ocular anterior segment dysgenesis	6392	SDHD	ORPHA:29072
HP:0007700	Ocular anterior segment dysgenesis	6390	SDHB	ORPHA:29072
HP:0007700	Ocular anterior segment dysgenesis	3708	ITPR1	ORPHA:1065
HP:0007700	Ocular anterior segment dysgenesis	3708	ITPR1	OMIM:117360
HP:0007700	Ocular anterior segment dysgenesis	3708	ITPR1	OMIM:206700
HP:0007700	Ocular anterior segment dysgenesis	26610	ELP4	OMIM:617141
HP:0007700	Ocular anterior segment dysgenesis	1750	DLX6	ORPHA:2440
HP:0007700	Ocular anterior segment dysgenesis	7979	SEM1	ORPHA:2440
HP:0007700	Ocular anterior segment dysgenesis	8945	BTRC	ORPHA:2440
HP:0007700	Ocular anterior segment dysgenesis	8626	TP63	ORPHA:2440
HP:0007700	Ocular anterior segment dysgenesis	58513	EPS15L1	ORPHA:2440
HP:0007700	Ocular anterior segment dysgenesis	6468	FBXW4	ORPHA:2440
HP:0007700	Ocular anterior segment dysgenesis	7480	WNT10B	ORPHA:2440
HP:0007700	Ocular anterior segment dysgenesis	1749	DLX5	ORPHA:2440
HP:0007700	Ocular anterior segment dysgenesis	5978	REST	ORPHA:654
HP:0007700	Ocular anterior segment dysgenesis	129563	DIS3L2	ORPHA:654
HP:0007700	Ocular anterior segment dysgenesis	9319	TRIP13	ORPHA:654
HP:0007700	Ocular anterior segment dysgenesis	10155	TRIM28	ORPHA:654
HP:0007700	Ocular anterior segment dysgenesis	11281	POU6F2	ORPHA:654
HP:0007700	Ocular anterior segment dysgenesis	2719	GPC3	ORPHA:654
HP:0007700	Ocular anterior segment dysgenesis	283120	H19	ORPHA:654
HP:0007700	Ocular anterior segment dysgenesis	2776	GNAQ	OMIM:185300
HP:0007700	Ocular anterior segment dysgenesis	2776	GNAQ	ORPHA:3205
HP:0007700	Ocular anterior segment dysgenesis	4081	MAB21L1	ORPHA:495875
HP:0007700	Ocular anterior segment dysgenesis	4081	MAB21L1	OMIM:618479
HP:0007700	Ocular anterior segment dysgenesis	2530	FUT8	OMIM:618005
HP:0007700	Ocular anterior segment dysgenesis	55624	POMGNT1	OMIM:253280
HP:0007700	Ocular anterior segment dysgenesis	4990	SIX6	OMIM:212550
HP:0007700	Ocular anterior segment dysgenesis	1605	DAG1	ORPHA:370997
HP:0007700	Ocular anterior segment dysgenesis	1605	DAG1	OMIM:616538
HP:0007700	Ocular anterior segment dysgenesis	207	AKT1	ORPHA:744
HP:0007700	Ocular anterior segment dysgenesis	92949	ADAMTSL1	ORPHA:521445
HP:0007700	Ocular anterior segment dysgenesis	2263	FGFR2	OMIM:101400
HP:0007700	Ocular anterior segment dysgenesis	7291	TWIST1	OMIM:101400
HP:0007700	Ocular anterior segment dysgenesis	4053	LTBP2	ORPHA:98976
HP:0007700	Ocular anterior segment dysgenesis	4053	LTBP2	OMIM:251750
HP:0007700	Ocular anterior segment dysgenesis	4653	MYOC	ORPHA:98976
HP:0007700	Ocular anterior segment dysgenesis	7010	TEK	ORPHA:98976
HP:0007700	Ocular anterior segment dysgenesis	7468	NSD2	OMIM:194190
HP:0007700	Ocular anterior segment dysgenesis	10815	CPLX1	OMIM:194190
HP:0007700	Ocular anterior segment dysgenesis	1487	CTBP1	OMIM:194190
HP:0007700	Ocular anterior segment dysgenesis	53834	FGFRL1	OMIM:194190
HP:0007700	Ocular anterior segment dysgenesis	3954	LETM1	OMIM:194190
HP:0007700	Ocular anterior segment dysgenesis	3480	IGF1R	OMIM:270450
HP:0007700	Ocular anterior segment dysgenesis	473	RERE	ORPHA:494344
HP:0007700	Ocular anterior segment dysgenesis	473	RERE	OMIM:616975
HP:0007700	Ocular anterior segment dysgenesis	29954	POMT2	OMIM:613150
HP:0007700	Ocular anterior segment dysgenesis	29954	POMT2	OMIM:236670
HP:0007700	Ocular anterior segment dysgenesis	54539	NDUFB11	OMIM:309801
HP:0007700	Ocular anterior segment dysgenesis	1349	COX7B	OMIM:309801
HP:0007700	Ocular anterior segment dysgenesis	3052	HCCS	OMIM:309801
HP:0007700	Ocular anterior segment dysgenesis	54892	NCAPG2	OMIM:618460
HP:0007700	Ocular anterior segment dysgenesis	1763	DNA2	OMIM:620819
HP:0007700	Ocular anterior segment dysgenesis	2296	FOXC1	ORPHA:250923
HP:0007700	Ocular anterior segment dysgenesis	2296	FOXC1	ORPHA:708
HP:0007700	Ocular anterior segment dysgenesis	2296	FOXC1	OMIM:601631
HP:0007700	Ocular anterior segment dysgenesis	54765	TRIM44	ORPHA:250923
HP:0007700	Ocular anterior segment dysgenesis	145173	B3GLCT	OMIM:261540
HP:0007700	Ocular anterior segment dysgenesis	145173	B3GLCT	ORPHA:709
HP:0007700	Ocular anterior segment dysgenesis	57479	PRR12	OMIM:619539
HP:0007700	Ocular anterior segment dysgenesis	729920	CRPPA	OMIM:614643
HP:0007700	Ocular anterior segment dysgenesis	1545	CYP1B1	ORPHA:708
HP:0007700	Ocular anterior segment dysgenesis	2301	FOXE3	ORPHA:708
HP:0007700	Ocular anterior segment dysgenesis	2301	FOXE3	OMIM:610256
HP:0007700	Ocular anterior segment dysgenesis	5308	PITX2	ORPHA:708
HP:0007700	Ocular anterior segment dysgenesis	1063	CENPF	OMIM:243605
HP:0007700	Ocular anterior segment dysgenesis	1000	CDH2	OMIM:618929
HP:0007700	Ocular anterior segment dysgenesis	22884	WDR37	OMIM:618652
HP:0007700	Ocular anterior segment dysgenesis	8085	KMT2D	ORPHA:2322
HP:0007700	Ocular anterior segment dysgenesis	7403	KDM6A	ORPHA:2322
HP:0007700	Ocular anterior segment dysgenesis	79147	FKRP	OMIM:236670
HP:0007700	Ocular anterior segment dysgenesis	2218	FKTN	OMIM:236670
HP:0007700	Ocular anterior segment dysgenesis	9469	CHST3	OMIM:245600
HP:0007700	Ocular anterior segment dysgenesis	26229	B3GAT3	OMIM:245600
HP:0007700	Ocular anterior segment dysgenesis	285590	SH3PXD2B	OMIM:249420
HP:0007700	Ocular anterior segment dysgenesis	6736	SRY	ORPHA:1772
HP:0007700	Ocular anterior segment dysgenesis	169792	GLIS3	OMIM:610199
HP:0007700	Ocular anterior segment dysgenesis	5831	PYCR1	OMIM:614438
HP:0007700	Ocular anterior segment dysgenesis	81846	SBF2	ORPHA:99956
HP:0007700	Ocular anterior segment dysgenesis	10535	RNASEH2A	ORPHA:51
HP:0007700	Ocular anterior segment dysgenesis	84153	RNASEH2C	ORPHA:51
HP:0007700	Ocular anterior segment dysgenesis	25939	SAMHD1	ORPHA:51
HP:0007700	Ocular anterior segment dysgenesis	79621	RNASEH2B	ORPHA:51
HP:0007700	Ocular anterior segment dysgenesis	103	ADAR	ORPHA:51
HP:0007700	Ocular anterior segment dysgenesis	11277	TREX1	ORPHA:51
HP:0007700	Ocular anterior segment dysgenesis	100147744	RNU7-1	ORPHA:51
HP:0007700	Ocular anterior segment dysgenesis	134353	LSM11	ORPHA:51
HP:0007700	Ocular anterior segment dysgenesis	64135	IFIH1	ORPHA:51
HP:0007700	Ocular anterior segment dysgenesis	124583	CANT1	OMIM:251450
HP:0007700	Ocular anterior segment dysgenesis	2316	FLNA	ORPHA:90652
HP:0007700	Ocular anterior segment dysgenesis	81031	SLC2A10	ORPHA:3342
HP:0007700	Ocular anterior segment dysgenesis	11107	PRDM5	OMIM:614170
HP:0007700	Ocular anterior segment dysgenesis	11107	PRDM5	ORPHA:90354
HP:0007700	Ocular anterior segment dysgenesis	63895	PIEZO2	OMIM:108145
HP:0007700	Ocular anterior segment dysgenesis	84627	ZNF469	ORPHA:90354
HP:0007700	Ocular anterior segment dysgenesis	84627	ZNF469	OMIM:229200
HP:0007700	Ocular anterior segment dysgenesis	9839	ZEB2	ORPHA:261537
HP:0007700	Ocular anterior segment dysgenesis	9839	ZEB2	ORPHA:261552
HP:0007700	Ocular anterior segment dysgenesis	182	JAG1	OMIM:118450
HP:0007700	Ocular anterior segment dysgenesis	146167	SLC38A8	OMIM:609218
HP:0007700	Ocular anterior segment dysgenesis	9653	HS2ST1	OMIM:619194
HP:0007700	Ocular anterior segment dysgenesis	5295	PIK3R1	ORPHA:3163
HP:0007700	Ocular anterior segment dysgenesis	2200	FBN1	OMIM:154700
HP:0007700	Ocular anterior segment dysgenesis	55733	HHAT	ORPHA:1422
HP:0007700	Ocular anterior segment dysgenesis	55733	HHAT	OMIM:600092
HP:0007700	Ocular anterior segment dysgenesis	6786	STIM1	OMIM:612783
HP:0007700	Ocular anterior segment dysgenesis	27151	CPAMD8	OMIM:617319
HP:0007700	Ocular anterior segment dysgenesis	406960	MIR184	OMIM:614303
HP:0007700	Ocular anterior segment dysgenesis	84942	WDR73	OMIM:251300
HP:0007700	Ocular anterior segment dysgenesis	4036	LRP2	OMIM:222448
HP:0007700	Ocular anterior segment dysgenesis	2260	FGFR1	OMIM:613001
HP:0007700	Ocular anterior segment dysgenesis	6663	SOX10	OMIM:611584
HP:0007700	Ocular anterior segment dysgenesis	5309	PITX3	OMIM:107250
HP:0007700	Ocular anterior segment dysgenesis	7837	PXDN	OMIM:269400
HP:0007700	Ocular anterior segment dysgenesis	30813	VSX1	OMIM:614195
HP:0007700	Ocular anterior segment dysgenesis	3166	HMX1	OMIM:612109
HP:0007700	Ocular anterior segment dysgenesis	23389	MED13L	ORPHA:369891
HP:0007700	Ocular anterior segment dysgenesis	55714	TENM3	OMIM:615145
HP:0007700	Ocular anterior segment dysgenesis	4286	MITF	OMIM:193510
HP:0007700	Ocular anterior segment dysgenesis	5077	PAX3	OMIM:193500
HP:0007700	Ocular anterior segment dysgenesis	4010	LMX1B	ORPHA:2614
HP:0007700	Ocular anterior segment dysgenesis	7490	WT1	ORPHA:893
HP:0007700	Ocular anterior segment dysgenesis	627	BDNF	ORPHA:893
HP:0007700	Ocular anterior segment dysgenesis	84314	TMEM107	ORPHA:564
HP:0007700	Ocular anterior segment dysgenesis	26123	TCTN3	ORPHA:564
HP:0007700	Ocular anterior segment dysgenesis	79867	TCTN2	ORPHA:564
HP:0007700	Ocular anterior segment dysgenesis	80776	B9D2	ORPHA:564
HP:0007700	Ocular anterior segment dysgenesis	79600	TCTN1	ORPHA:564
HP:0007700	Ocular anterior segment dysgenesis	57096	RPGRIP1	ORPHA:564
HP:0007700	Ocular anterior segment dysgenesis	79848	CSPP1	ORPHA:564
HP:0007700	Ocular anterior segment dysgenesis	80184	CEP290	ORPHA:564
HP:0007700	Ocular anterior segment dysgenesis	51259	TMEM216	ORPHA:564
HP:0007700	Ocular anterior segment dysgenesis	57545	CC2D2A	ORPHA:564
HP:0007700	Ocular anterior segment dysgenesis	79583	TMEM231	ORPHA:564
HP:0007700	Ocular anterior segment dysgenesis	91147	TMEM67	ORPHA:564
HP:0007700	Ocular anterior segment dysgenesis	79770	TXNDC15	ORPHA:564
HP:0007700	Ocular anterior segment dysgenesis	27077	B9D1	ORPHA:564
HP:0007700	Ocular anterior segment dysgenesis	23322	RPGRIP1L	ORPHA:564
HP:0007700	Ocular anterior segment dysgenesis	54903	MKS1	ORPHA:564
HP:0007700	Ocular anterior segment dysgenesis	65062	TMEM237	ORPHA:564
HP:0007700	Ocular anterior segment dysgenesis	6804	STX1A	ORPHA:904
HP:0007700	Ocular anterior segment dysgenesis	7461	CLIP2	ORPHA:904
HP:0007700	Ocular anterior segment dysgenesis	84277	DNAJC30	ORPHA:904
HP:0007700	Ocular anterior segment dysgenesis	8468	FKBP6	ORPHA:904
HP:0007700	Ocular anterior segment dysgenesis	5982	RFC2	ORPHA:904
HP:0007700	Ocular anterior segment dysgenesis	2969	GTF2I	ORPHA:904
HP:0007700	Ocular anterior segment dysgenesis	3984	LIMK1	ORPHA:904
HP:0007700	Ocular anterior segment dysgenesis	9569	GTF2IRD1	ORPHA:904
HP:0007700	Ocular anterior segment dysgenesis	155382	VPS37D	ORPHA:904
HP:0007700	Ocular anterior segment dysgenesis	155368	METTL27	ORPHA:904
HP:0007700	Ocular anterior segment dysgenesis	114049	BUD23	ORPHA:904
HP:0007700	Ocular anterior segment dysgenesis	7458	EIF4H	ORPHA:904
HP:0007700	Ocular anterior segment dysgenesis	84163	GTF2IRD2	ORPHA:904
HP:0007700	Ocular anterior segment dysgenesis	26608	TBL2	ORPHA:904
HP:0007700	Ocular anterior segment dysgenesis	653361	NCF1	ORPHA:904
HP:0007700	Ocular anterior segment dysgenesis	135886	TMEM270	ORPHA:904
HP:0007700	Ocular anterior segment dysgenesis	9031	BAZ1B	ORPHA:904
HP:0007700	Ocular anterior segment dysgenesis	672	BRCA1	ORPHA:84
HP:0007700	Ocular anterior segment dysgenesis	10459	MAD2L2	ORPHA:84
HP:0007700	Ocular anterior segment dysgenesis	7516	XRCC2	ORPHA:84
HP:0007700	Ocular anterior segment dysgenesis	29089	UBE2T	ORPHA:84
HP:0007700	Ocular anterior segment dysgenesis	675	BRCA2	ORPHA:84
HP:0007700	Ocular anterior segment dysgenesis	55120	FANCL	ORPHA:84
HP:0007700	Ocular anterior segment dysgenesis	2177	FANCD2	ORPHA:84
HP:0007700	Ocular anterior segment dysgenesis	2175	FANCA	ORPHA:84
HP:0007700	Ocular anterior segment dysgenesis	2187	FANCB	ORPHA:84
HP:0007700	Ocular anterior segment dysgenesis	2176	FANCC	ORPHA:84
HP:0007700	Ocular anterior segment dysgenesis	2178	FANCE	ORPHA:84
HP:0007700	Ocular anterior segment dysgenesis	2188	FANCF	ORPHA:84
HP:0007700	Ocular anterior segment dysgenesis	2189	FANCG	ORPHA:84
HP:0007700	Ocular anterior segment dysgenesis	5888	RAD51	ORPHA:84
HP:0007700	Ocular anterior segment dysgenesis	5889	RAD51C	ORPHA:84
HP:0007700	Ocular anterior segment dysgenesis	55159	RFWD3	ORPHA:84
HP:0007700	Ocular anterior segment dysgenesis	83990	BRIP1	ORPHA:84
HP:0007700	Ocular anterior segment dysgenesis	57697	FANCM	ORPHA:84
HP:0007700	Ocular anterior segment dysgenesis	79728	PALB2	ORPHA:84
HP:0007700	Ocular anterior segment dysgenesis	84464	SLX4	ORPHA:84
HP:0007700	Ocular anterior segment dysgenesis	2072	ERCC4	ORPHA:84
HP:0007700	Ocular anterior segment dysgenesis	55215	FANCI	ORPHA:84
HP:0007700	Ocular anterior segment dysgenesis	1280	COL2A1	ORPHA:485
HP:0007700	Ocular anterior segment dysgenesis	64132	XYLT2	ORPHA:85194
HP:0007700	Ocular anterior segment dysgenesis	2670	GFAP	OMIM:203450
HP:0007700	Ocular anterior segment dysgenesis	5950	RBP4	OMIM:616428
HP:0007700	Ocular anterior segment dysgenesis	3913	LAMB2	OMIM:609049
HP:0007700	Ocular anterior segment dysgenesis	4796	TONSL	ORPHA:93357
HP:0007700	Ocular anterior segment dysgenesis	170691	ADAMTS17	ORPHA:3449
HP:0007700	Ocular anterior segment dysgenesis	81794	ADAMTS10	ORPHA:3449
HP:0007700	Ocular anterior segment dysgenesis	81794	ADAMTS10	OMIM:277600
HP:0007700	Ocular anterior segment dysgenesis	64121	RRAGC	OMIM:620609
HP:0007700	Ocular anterior segment dysgenesis	23291	FBXW11	OMIM:618914
HP:0007700	Ocular anterior segment dysgenesis	2248	FGF3	ORPHA:2791
HP:0007697	Hypoplasia of the lower eyelids	1984	EIF5A	OMIM:619376
HP:0007722	Retinal pigment epithelial atrophy	7439	BEST1	OMIM:611809
HP:0007722	Retinal pigment epithelial atrophy	10210	TOPORS	OMIM:609923
HP:0007722	Retinal pigment epithelial atrophy	7840	ALMS1	ORPHA:64
HP:0007722	Retinal pigment epithelial atrophy	22926	ATF6	ORPHA:49382
HP:0007722	Retinal pigment epithelial atrophy	5146	PDE6C	ORPHA:49382
HP:0007722	Retinal pigment epithelial atrophy	6103	RPGR	ORPHA:49382
HP:0007722	Retinal pigment epithelial atrophy	6103	RPGR	OMIM:304020
HP:0007722	Retinal pigment epithelial atrophy	5149	PDE6H	ORPHA:49382
HP:0007722	Retinal pigment epithelial atrophy	2780	GNAT2	ORPHA:49382
HP:0007722	Retinal pigment epithelial atrophy	1261	CNGA3	ORPHA:49382
HP:0007722	Retinal pigment epithelial atrophy	54714	CNGB3	ORPHA:49382
HP:0007722	Retinal pigment epithelial atrophy	54714	CNGB3	ORPHA:827
HP:0007722	Retinal pigment epithelial atrophy	6247	RS1	ORPHA:792
HP:0007722	Retinal pigment epithelial atrophy	6247	RS1	OMIM:312700
HP:0007722	Retinal pigment epithelial atrophy	83723	TLCD3B	OMIM:619531
HP:0007722	Retinal pigment epithelial atrophy	112752	IFT43	OMIM:617871
HP:0007722	Retinal pigment epithelial atrophy	7275	TUB	OMIM:616188
HP:0007722	Retinal pigment epithelial atrophy	285440	CYP4V2	ORPHA:41751
HP:0007722	Retinal pigment epithelial atrophy	8842	PROM1	OMIM:608051
HP:0007722	Retinal pigment epithelial atrophy	8842	PROM1	ORPHA:827
HP:0007722	Retinal pigment epithelial atrophy	5961	PRPH2	ORPHA:827
HP:0007722	Retinal pigment epithelial atrophy	6785	ELOVL4	ORPHA:827
HP:0007722	Retinal pigment epithelial atrophy	24	ABCA4	ORPHA:827
HP:0007722	Retinal pigment epithelial atrophy	24	ABCA4	OMIM:601718
HP:0007722	Retinal pigment epithelial atrophy	51109	RDH11	OMIM:616108
HP:0007722	Retinal pigment epithelial atrophy	344658	SAMD7	OMIM:620762
HP:0007722	Retinal pigment epithelial atrophy	1406	CRX	OMIM:120970
HP:0007722	Retinal pigment epithelial atrophy	224	ALDH3A2	OMIM:270200
HP:0007722	Retinal pigment epithelial atrophy	10908	PNPLA6	OMIM:215470
HP:0007722	Retinal pigment epithelial atrophy	9227	LRAT	ORPHA:364055
HP:0007722	Retinal pigment epithelial atrophy	55812	SPATA7	ORPHA:364055
HP:0007722	Retinal pigment epithelial atrophy	6121	RPE65	ORPHA:364055
HP:0007722	Retinal pigment epithelial atrophy	167691	LCA5	ORPHA:364055
HP:0007722	Retinal pigment epithelial atrophy	8481	OFD1	OMIM:300424
HP:0007722	Retinal pigment epithelial atrophy	6017	RLBP1	ORPHA:85128
HP:0007722	Retinal pigment epithelial atrophy	50939	IMPG2	OMIM:613581
HP:0007722	Retinal pigment epithelial atrophy	83552	MFRP	OMIM:611040
HP:0007722	Retinal pigment epithelial atrophy	92211	CDHR1	OMIM:613660
HP:0007722	Retinal pigment epithelial atrophy	24148	PRPF6	OMIM:613983
HP:0007722	Retinal pigment epithelial atrophy	3419	IDH3A	OMIM:619007
HP:0007722	Retinal pigment epithelial atrophy	7078	TIMP3	ORPHA:59181
HP:0007722	Retinal pigment epithelial atrophy	57670	KIAA1549	OMIM:618613
HP:0007722	Retinal pigment epithelial atrophy	23020	SNRNP200	OMIM:610359
HP:0007722	Retinal pigment epithelial atrophy	51095	TRNT1	OMIM:616959
HP:0007722	Retinal pigment epithelial atrophy	1462	VCAN	OMIM:143200
HP:0007722	Retinal pigment epithelial atrophy	79797	ZNF408	OMIM:616468
HP:0007722	Retinal pigment epithelial atrophy	114902	C1QTNF5	ORPHA:67042
HP:0001281	Tetany	140803	TRPM6	OMIM:602014
HP:0001281	Tetany	846	CASR	OMIM:601198
HP:0001281	Tetany	6899	TBX1	OMIM:188400
HP:0001281	Tetany	6899	TBX1	ORPHA:567
HP:0001281	Tetany	6557	SLC12A1	OMIM:601678
HP:0001281	Tetany	6905	TBCE	OMIM:244460
HP:0001281	Tetany	6905	TBCE	OMIM:241410
HP:0001281	Tetany	3758	KCNJ1	OMIM:241200
HP:0001281	Tetany	1594	CYP27B1	ORPHA:289157
HP:0001281	Tetany	120227	CYP2R1	ORPHA:289157
HP:0001281	Tetany	10312	TCIRG1	OMIM:259700
HP:0001281	Tetany	5741	PTH	OMIM:146200
HP:0001281	Tetany	2625	GATA3	OMIM:146255
HP:0001281	Tetany	10686	CLDN16	OMIM:248250
HP:0001281	Tetany	6559	SLC12A3	OMIM:263800
HP:0001281	Tetany	1312	COMT	ORPHA:567
HP:0001281	Tetany	221037	JMJD1C	ORPHA:567
HP:0001281	Tetany	2812	GP1BB	ORPHA:567
HP:0001281	Tetany	6239	RREB1	ORPHA:567
HP:0001281	Tetany	7290	HIRA	ORPHA:567
HP:0001281	Tetany	9632	SEC24C	ORPHA:567
HP:0001281	Tetany	7353	UFD1	ORPHA:567
HP:0001281	Tetany	421	ARVCF	ORPHA:567
HP:0001281	Tetany	58528	RRAGD	OMIM:620152
HP:0001283	Bulbar palsy	23299	BICD2	OMIM:615290
HP:0001283	Bulbar palsy	1145	CHRNE	OMIM:605809
HP:0001283	Bulbar palsy	91574	MTRFR	ORPHA:254930
HP:0001283	Bulbar palsy	7084	TK2	ORPHA:254875
HP:0001283	Bulbar palsy	10755	GIPC1	OMIM:618940
HP:0001283	Bulbar palsy	100131801	PET100	OMIM:619055
HP:0001283	Bulbar palsy	7072	TIA1	OMIM:619133
HP:0001283	Bulbar palsy	56203	LMOD3	OMIM:616165
HP:0001283	Bulbar palsy	1103	CHAT	OMIM:254210
HP:0001283	Bulbar palsy	1103	CHAT	ORPHA:98914
HP:0001283	Bulbar palsy	9782	MATR3	OMIM:606070
HP:0001283	Bulbar palsy	9782	MATR3	ORPHA:600
HP:0001283	Bulbar palsy	1305	COL13A1	OMIM:616720
HP:0001283	Bulbar palsy	1305	COL13A1	ORPHA:98914
HP:0001283	Bulbar palsy	400916	CHCHD10	OMIM:615911
HP:0001283	Bulbar palsy	400916	CHCHD10	ORPHA:275872
HP:0001283	Bulbar palsy	3098	HK1	OMIM:618547
HP:0001283	Bulbar palsy	113278	SLC52A3	OMIM:211500
HP:0001283	Bulbar palsy	113278	SLC52A3	OMIM:211530
HP:0001283	Bulbar palsy	1134	CHRNA1	OMIM:608930
HP:0001283	Bulbar palsy	4703	NEB	OMIM:256030
HP:0001283	Bulbar palsy	2521	FUS	ORPHA:275872
HP:0001283	Bulbar palsy	8878	SQSTM1	ORPHA:275872
HP:0001283	Bulbar palsy	8878	SQSTM1	OMIM:616437
HP:0001283	Bulbar palsy	7415	VCP	ORPHA:275872
HP:0001283	Bulbar palsy	23435	TARDBP	ORPHA:275872
HP:0001283	Bulbar palsy	29110	TBK1	ORPHA:275872
HP:0001283	Bulbar palsy	29110	TBK1	OMIM:616439
HP:0001283	Bulbar palsy	58	ACTA1	OMIM:161800
HP:0001283	Bulbar palsy	79581	SLC52A2	OMIM:614707
HP:0001283	Bulbar palsy	10049	DNAJB6	OMIM:603511
HP:0001283	Bulbar palsy	215	ABCD1	OMIM:300100
HP:0001283	Bulbar palsy	60482	SLC5A7	OMIM:617143
HP:0001283	Bulbar palsy	60482	SLC5A7	ORPHA:98914
HP:0001283	Bulbar palsy	6576	SLC25A1	OMIM:618197
HP:0001283	Bulbar palsy	6576	SLC25A1	ORPHA:98914
HP:0001283	Bulbar palsy	1674	DES	OMIM:601419
HP:0001283	Bulbar palsy	7170	TPM3	OMIM:255310
HP:0001283	Bulbar palsy	9373	PLAA	ORPHA:521426
HP:0001283	Bulbar palsy	9373	PLAA	OMIM:617527
HP:0001283	Bulbar palsy	4649	MYO9A	ORPHA:98914
HP:0001283	Bulbar palsy	6843	VAMP1	ORPHA:98914
HP:0001283	Bulbar palsy	375790	AGRN	ORPHA:98914
HP:0001283	Bulbar palsy	127833	SYT2	ORPHA:98914
HP:0001283	Bulbar palsy	6572	SLC18A3	ORPHA:98914
HP:0001283	Bulbar palsy	6616	SNAP25	ORPHA:98914
HP:0001283	Bulbar palsy	367	AR	OMIM:313200
HP:0001283	Bulbar palsy	54822	TRPM7	OMIM:105500
HP:0001283	Bulbar palsy	2934	GSN	OMIM:105120
HP:0001283	Bulbar palsy	6310	ATXN1	OMIM:164400
HP:0001283	Bulbar palsy	285489	DOK7	OMIM:254300
HP:0001283	Bulbar palsy	410	ARSA	OMIM:250100
HP:0001284	Areflexia	9131	AIFM1	ORPHA:238329
HP:0001284	Areflexia	9131	AIFM1	ORPHA:101078
HP:0001284	Areflexia	9131	AIFM1	OMIM:300614
HP:0001284	Areflexia	9131	AIFM1	OMIM:300816
HP:0001284	Areflexia	4359	MPZ	OMIM:618184
HP:0001284	Areflexia	4359	MPZ	OMIM:180800
HP:0001284	Areflexia	4359	MPZ	ORPHA:3115
HP:0001284	Areflexia	4359	MPZ	ORPHA:101082
HP:0001284	Areflexia	4359	MPZ	OMIM:118200
HP:0001284	Areflexia	4359	MPZ	OMIM:145900
HP:0001284	Areflexia	4359	MPZ	OMIM:607677
HP:0001284	Areflexia	4359	MPZ	OMIM:607791
HP:0001284	Areflexia	4359	MPZ	OMIM:607736
HP:0001284	Areflexia	91574	MTRFR	ORPHA:254930
HP:0001284	Areflexia	91574	MTRFR	OMIM:613559
HP:0001284	Areflexia	5376	PMP22	OMIM:118300
HP:0001284	Areflexia	5376	PMP22	OMIM:180800
HP:0001284	Areflexia	5376	PMP22	ORPHA:3115
HP:0001284	Areflexia	5376	PMP22	OMIM:118220
HP:0001284	Areflexia	5376	PMP22	OMIM:145900
HP:0001284	Areflexia	3094	HINT1	ORPHA:324442
HP:0001284	Areflexia	6834	SURF1	OMIM:616684
HP:0001284	Areflexia	8506	CNTNAP1	OMIM:618186
HP:0001284	Areflexia	8506	CNTNAP1	OMIM:616286
HP:0001284	Areflexia	59341	TRPV4	OMIM:606071
HP:0001284	Areflexia	59341	TRPV4	OMIM:600175
HP:0001284	Areflexia	59341	TRPV4	OMIM:181405
HP:0001284	Areflexia	22880	MORC2	OMIM:616688
HP:0001284	Areflexia	22880	MORC2	OMIM:619090
HP:0001284	Areflexia	1161	ERCC8	ORPHA:90324
HP:0001284	Areflexia	2074	ERCC6	ORPHA:90324
HP:0001284	Areflexia	2074	ERCC6	OMIM:278800
HP:0001284	Areflexia	10059	DNM1L	OMIM:614388
HP:0001284	Areflexia	10059	DNM1L	ORPHA:98673
HP:0001284	Areflexia	50717	DCAF8	OMIM:610100
HP:0001284	Areflexia	9927	MFN2	OMIM:151800
HP:0001284	Areflexia	9927	MFN2	OMIM:601152
HP:0001284	Areflexia	9927	MFN2	OMIM:609260
HP:0001284	Areflexia	400916	CHCHD10	OMIM:615911
HP:0001284	Areflexia	400916	CHCHD10	OMIM:615048
HP:0001284	Areflexia	400916	CHCHD10	ORPHA:276435
HP:0001284	Areflexia	55775	TDP1	ORPHA:94124
HP:0001284	Areflexia	55775	TDP1	OMIM:607250
HP:0001284	Areflexia	7138	TNNT1	OMIM:620389
HP:0001284	Areflexia	5830	PEX5	OMIM:214110
HP:0001284	Areflexia	79581	SLC52A2	OMIM:614707
HP:0001284	Areflexia	5428	POLG	ORPHA:94125
HP:0001284	Areflexia	5428	POLG	ORPHA:726
HP:0001284	Areflexia	5428	POLG	OMIM:607459
HP:0001284	Areflexia	5428	POLG	OMIM:258450
HP:0001284	Areflexia	5428	POLG	OMIM:603041
HP:0001284	Areflexia	5428	POLG	ORPHA:70595
HP:0001284	Areflexia	3190	HNRNPK	ORPHA:453504
HP:0001284	Areflexia	3190	HNRNPK	ORPHA:352665
HP:0001284	Areflexia	5339	PLEC	ORPHA:254361
HP:0001284	Areflexia	7879	RAB7A	OMIM:600882
HP:0001284	Areflexia	5631	PRPS1	ORPHA:99014
HP:0001284	Areflexia	5631	PRPS1	ORPHA:1187
HP:0001284	Areflexia	5631	PRPS1	OMIM:301835
HP:0001284	Areflexia	2617	GARS1	OMIM:619042
HP:0001284	Areflexia	54332	GDAP1	OMIM:607831
HP:0001284	Areflexia	54332	GDAP1	OMIM:607706
HP:0001284	Areflexia	54332	GDAP1	ORPHA:101097
HP:0001284	Areflexia	54332	GDAP1	OMIM:608340
HP:0001284	Areflexia	54332	GDAP1	ORPHA:99948
HP:0001284	Areflexia	54332	GDAP1	OMIM:214400
HP:0001284	Areflexia	56704	JPH1	OMIM:607831
HP:0001284	Areflexia	58	ACTA1	ORPHA:171433
HP:0001284	Areflexia	58	ACTA1	OMIM:620278
HP:0001284	Areflexia	58	ACTA1	ORPHA:2020
HP:0001284	Areflexia	58	ACTA1	OMIM:161800
HP:0001284	Areflexia	58	ACTA1	ORPHA:171439
HP:0001284	Areflexia	58	ACTA1	OMIM:616852
HP:0001284	Areflexia	4703	NEB	ORPHA:171433
HP:0001284	Areflexia	4703	NEB	ORPHA:171439
HP:0001284	Areflexia	4703	NEB	OMIM:256030
HP:0001284	Areflexia	10324	KLHL41	ORPHA:171433
HP:0001284	Areflexia	10324	KLHL41	ORPHA:171439
HP:0001284	Areflexia	7170	TPM3	ORPHA:171433
HP:0001284	Areflexia	7170	TPM3	ORPHA:2020
HP:0001284	Areflexia	7170	TPM3	ORPHA:171439
HP:0001284	Areflexia	8566	PDXK	OMIM:618511
HP:0001284	Areflexia	200205	IBA57	OMIM:616451
HP:0001284	Areflexia	6616	SNAP25	OMIM:616330
HP:0001284	Areflexia	6616	SNAP25	ORPHA:98914
HP:0001284	Areflexia	1785	DNM2	OMIM:615368
HP:0001284	Areflexia	1785	DNM2	OMIM:160150
HP:0001284	Areflexia	1785	DNM2	OMIM:606482
HP:0001284	Areflexia	84466	MEGF10	OMIM:614399
HP:0001284	Areflexia	84466	MEGF10	OMIM:620249
HP:0001284	Areflexia	16	AARS1	OMIM:616339
HP:0001284	Areflexia	16	AARS1	OMIM:619691
HP:0001284	Areflexia	16	AARS1	OMIM:613287
HP:0001284	Areflexia	9200	HACD1	OMIM:619967
HP:0001284	Areflexia	9200	HACD1	ORPHA:2020
HP:0001284	Areflexia	81846	SBF2	OMIM:604563
HP:0001284	Areflexia	5189	PEX1	OMIM:214100
HP:0001284	Areflexia	29925	GMPPB	ORPHA:353327
HP:0001284	Areflexia	2673	GFPT1	ORPHA:353327
HP:0001284	Areflexia	1798	DPAGT1	ORPHA:353327
HP:0001284	Areflexia	85365	ALG2	ORPHA:353327
HP:0001284	Areflexia	199857	ALG14	ORPHA:353327
HP:0001284	Areflexia	23250	ATP11A	OMIM:619851
HP:0001284	Areflexia	23321	TRIM2	OMIM:615490
HP:0001284	Areflexia	4358	MPV17	OMIM:618400
HP:0001284	Areflexia	4358	MPV17	OMIM:256810
HP:0001284	Areflexia	57449	PLEKHG5	OMIM:615376
HP:0001284	Areflexia	57449	PLEKHG5	OMIM:611067
HP:0001284	Areflexia	1020	CDK5	OMIM:616342
HP:0001284	Areflexia	274	BIN1	OMIM:255200
HP:0001284	Areflexia	274	BIN1	ORPHA:169186
HP:0001284	Areflexia	1272	CNTN1	OMIM:612540
HP:0001284	Areflexia	9692	PRORP	OMIM:619737
HP:0001284	Areflexia	6261	RYR1	OMIM:255320
HP:0001284	Areflexia	6261	RYR1	ORPHA:169186
HP:0001284	Areflexia	6261	RYR1	ORPHA:424107
HP:0001284	Areflexia	22954	TRIM32	OMIM:254110
HP:0001284	Areflexia	966	CD59	OMIM:612300
HP:0001284	Areflexia	311	ANXA11	OMIM:619733
HP:0001284	Areflexia	55681	SCYL2	OMIM:618766
HP:0001284	Areflexia	55681	SCYL2	ORPHA:1143
HP:0001284	Areflexia	93627	TBCK	OMIM:616900
HP:0001284	Areflexia	93627	TBCK	ORPHA:488632
HP:0001284	Areflexia	29967	LRP12	OMIM:164310
HP:0001284	Areflexia	29967	LRP12	ORPHA:98897
HP:0001284	Areflexia	9570	GOSR2	OMIM:620166
HP:0001284	Areflexia	9570	GOSR2	OMIM:614018
HP:0001284	Areflexia	9499	MYOT	OMIM:609200
HP:0001284	Areflexia	9217	VAPB	ORPHA:209335
HP:0001284	Areflexia	9217	VAPB	OMIM:608627
HP:0001284	Areflexia	8802	SUCLG1	OMIM:245400
HP:0001284	Areflexia	7274	TTPA	ORPHA:96
HP:0001284	Areflexia	7274	TTPA	OMIM:277460
HP:0001284	Areflexia	57190	SELENON	ORPHA:2020
HP:0001284	Areflexia	4633	MYL2	ORPHA:2020
HP:0001284	Areflexia	3679	ITGA7	ORPHA:2020
HP:0001284	Areflexia	7169	TPM2	ORPHA:2020
HP:0001284	Areflexia	7169	TPM2	ORPHA:171439
HP:0001284	Areflexia	51776	MAP3K20	ORPHA:2020
HP:0001284	Areflexia	1303	COL12A1	OMIM:616470
HP:0001284	Areflexia	1303	COL12A1	ORPHA:536516
HP:0001284	Areflexia	478	ATP1A3	ORPHA:1171
HP:0001284	Areflexia	478	ATP1A3	ORPHA:2131
HP:0001284	Areflexia	478	ATP1A3	OMIM:601338
HP:0001284	Areflexia	3735	KARS1	OMIM:613641
HP:0001284	Areflexia	4632	MYL1	OMIM:618414
HP:0001284	Areflexia	54840	APTX	OMIM:208920
HP:0001284	Areflexia	79731	NARS2	OMIM:616239
HP:0001284	Areflexia	5193	PEX12	OMIM:614859
HP:0001284	Areflexia	5193	PEX12	OMIM:266510
HP:0001284	Areflexia	9896	FIG4	OMIM:611228
HP:0001284	Areflexia	4747	NEFL	ORPHA:101085
HP:0001284	Areflexia	4747	NEFL	OMIM:607684
HP:0001284	Areflexia	4747	NEFL	OMIM:607734
HP:0001284	Areflexia	4747	NEFL	OMIM:617882
HP:0001284	Areflexia	5373	PMM2	OMIM:212065
HP:0001284	Areflexia	121512	FGD4	OMIM:609311
HP:0001284	Areflexia	3475	IFRD1	ORPHA:98771
HP:0001284	Areflexia	5621	PRNP	ORPHA:356
HP:0001284	Areflexia	5621	PRNP	OMIM:137440
HP:0001284	Areflexia	9895	TECPR2	OMIM:615031
HP:0001284	Areflexia	9895	TECPR2	ORPHA:320385
HP:0001284	Areflexia	23533	PIK3R5	ORPHA:64753
HP:0001284	Areflexia	23533	PIK3R5	OMIM:615217
HP:0001284	Areflexia	23064	SETX	ORPHA:64753
HP:0001284	Areflexia	23064	SETX	OMIM:606002
HP:0001284	Areflexia	57863	CADM3	OMIM:619519
HP:0001284	Areflexia	92609	TIMM50	OMIM:617698
HP:0001284	Areflexia	5828	PEX2	OMIM:614866
HP:0001284	Areflexia	773	CACNA1A	ORPHA:2131
HP:0001284	Areflexia	6507	SLC1A3	ORPHA:2131
HP:0001284	Areflexia	477	ATP1A2	ORPHA:2131
HP:0001284	Areflexia	10290	SPEG	OMIM:615959
HP:0001284	Areflexia	10290	SPEG	ORPHA:169186
HP:0001284	Areflexia	8659	ALDH4A1	ORPHA:79101
HP:0001284	Areflexia	2705	GJB1	ORPHA:101075
HP:0001284	Areflexia	9990	SLC12A6	OMIM:620068
HP:0001284	Areflexia	9990	SLC12A6	OMIM:218000
HP:0001284	Areflexia	4952	OCRL	OMIM:309000
HP:0001284	Areflexia	4952	OCRL	ORPHA:534
HP:0001284	Areflexia	25894	PLEKHG4	ORPHA:98765
HP:0001284	Areflexia	10908	PNPLA6	OMIM:215470
HP:0001284	Areflexia	10613	ERLIN1	ORPHA:401785
HP:0001284	Areflexia	4311	MME	ORPHA:497764
HP:0001284	Areflexia	4311	MME	OMIM:617017
HP:0001284	Areflexia	23175	LPIN1	OMIM:268200
HP:0001284	Areflexia	64419	MTMR14	OMIM:160150
HP:0001284	Areflexia	6305	SBF1	OMIM:615284
HP:0001284	Areflexia	23095	KIF1B	OMIM:118210
HP:0001284	Areflexia	2548	GAA	ORPHA:308552
HP:0001284	Areflexia	2548	GAA	OMIM:232300
HP:0001284	Areflexia	7358	UGDH	OMIM:618792
HP:0001284	Areflexia	5192	PEX10	OMIM:614871
HP:0001284	Areflexia	4076	CAPRIN1	OMIM:620636
HP:0001284	Areflexia	163175	LGI4	OMIM:617468
HP:0001284	Areflexia	10342	TFG	ORPHA:90117
HP:0001284	Areflexia	10342	TFG	OMIM:604484
HP:0001284	Areflexia	182	JAG1	OMIM:118450
HP:0001284	Areflexia	51128	SAR1B	ORPHA:71
HP:0001284	Areflexia	8565	YARS1	OMIM:608323
HP:0001284	Areflexia	91949	COG7	ORPHA:79333
HP:0001284	Areflexia	56652	TWNK	OMIM:271245
HP:0001284	Areflexia	56652	TWNK	OMIM:607459
HP:0001284	Areflexia	56652	TWNK	OMIM:609286
HP:0001284	Areflexia	56652	TWNK	ORPHA:70595
HP:0001284	Areflexia	57104	PNPLA2	OMIM:610717
HP:0001284	Areflexia	57104	PNPLA2	ORPHA:98908
HP:0001284	Areflexia	23299	BICD2	OMIM:615290
HP:0001284	Areflexia	5981	RFC1	ORPHA:504476
HP:0001284	Areflexia	9342	SNAP29	OMIM:609528
HP:0001284	Areflexia	9342	SNAP29	ORPHA:66631
HP:0001284	Areflexia	6843	VAMP1	OMIM:618323
HP:0001284	Areflexia	6843	VAMP1	ORPHA:98914
HP:0001284	Areflexia	11284	PNKP	OMIM:616267
HP:0001284	Areflexia	11284	PNKP	OMIM:605589
HP:0001284	Areflexia	3300	DNAJB2	OMIM:614881
HP:0001284	Areflexia	10743	RAI1	OMIM:182290
HP:0001284	Areflexia	729920	CRPPA	OMIM:614643
HP:0001284	Areflexia	729920	CRPPA	ORPHA:899
HP:0001284	Areflexia	8504	PEX3	OMIM:614882
HP:0001284	Areflexia	6240	RRM1	OMIM:620647
HP:0001284	Areflexia	7317	UBA1	ORPHA:1145
HP:0001284	Areflexia	7317	UBA1	OMIM:301830
HP:0001284	Areflexia	23219	FBXO28	OMIM:619777
HP:0001284	Areflexia	84665	MYPN	ORPHA:171439
HP:0001284	Areflexia	390594	KBTBD13	ORPHA:171439
HP:0001284	Areflexia	84570	COL25A1	ORPHA:1143
HP:0001284	Areflexia	57222	ERGIC1	ORPHA:1143
HP:0001284	Areflexia	5195	PEX14	OMIM:614887
HP:0001284	Areflexia	26353	HSPB8	OMIM:608673
HP:0001284	Areflexia	23479	ISCU	OMIM:255125
HP:0001284	Areflexia	3098	HK1	ORPHA:99953
HP:0001284	Areflexia	3098	HK1	OMIM:605285
HP:0001284	Areflexia	65125	WNK1	OMIM:201300
HP:0001284	Areflexia	54463	RETREG1	OMIM:201300
HP:0001284	Areflexia	54463	RETREG1	OMIM:613115
HP:0001284	Areflexia	6335	SCN9A	OMIM:201300
HP:0001284	Areflexia	547	KIF1A	OMIM:201300
HP:0001284	Areflexia	91137	SLC25A46	OMIM:619303
HP:0001284	Areflexia	91137	SLC25A46	OMIM:616505
HP:0001284	Areflexia	51117	COQ4	OMIM:616276
HP:0001284	Areflexia	667	DST	OMIM:614653
HP:0001284	Areflexia	57716	PRX	OMIM:614895
HP:0001284	Areflexia	57716	PRX	OMIM:145900
HP:0001284	Areflexia	1337	COX6A1	OMIM:616039
HP:0001284	Areflexia	23590	PDSS1	OMIM:614651
HP:0001284	Areflexia	5081	PAX7	OMIM:618578
HP:0001284	Areflexia	79628	SH3TC2	ORPHA:99949
HP:0001284	Areflexia	4000	LMNA	ORPHA:98856
HP:0001284	Areflexia	4000	LMNA	OMIM:605588
HP:0001284	Areflexia	1959	EGR2	OMIM:145900
HP:0001284	Areflexia	1959	EGR2	OMIM:605253
HP:0001284	Areflexia	56052	ALG1	OMIM:608540
HP:0001284	Areflexia	6310	ATXN1	OMIM:164400
HP:0001284	Areflexia	8729	GBF1	OMIM:606483
HP:0001284	Areflexia	7273	TTN	ORPHA:169186
HP:0001284	Areflexia	9488	PIGB	OMIM:618580
HP:0001284	Areflexia	353116	RILPL1	OMIM:619790
HP:0001284	Areflexia	353116	RILPL1	ORPHA:98897
HP:0001284	Areflexia	4141	MARS1	OMIM:616280
HP:0001284	Areflexia	127833	SYT2	OMIM:616040
HP:0001284	Areflexia	127833	SYT2	OMIM:619461
HP:0001284	Areflexia	127833	SYT2	ORPHA:98914
HP:0001284	Areflexia	80207	OPA3	ORPHA:67036
HP:0001284	Areflexia	112	ADCY6	OMIM:616287
HP:0001284	Areflexia	270	AMPD1	OMIM:615511
HP:0001284	Areflexia	79912	PYROXD1	OMIM:617258
HP:0001284	Areflexia	2653	GCSH	OMIM:620423
HP:0001284	Areflexia	10397	NDRG1	OMIM:601455
HP:0001284	Areflexia	91942	NDUFAF2	OMIM:618233
HP:0001284	Areflexia	63895	PIEZO2	OMIM:617146
HP:0001284	Areflexia	50	ACO2	OMIM:614559
HP:0001284	Areflexia	90678	LRSAM1	OMIM:614436
HP:0001284	Areflexia	10073	SNUPN	OMIM:620793
HP:0001284	Areflexia	84892	POMGNT2	ORPHA:899
HP:0001284	Areflexia	148789	B3GALNT2	ORPHA:899
HP:0001284	Areflexia	79147	FKRP	ORPHA:899
HP:0001284	Areflexia	29954	POMT2	ORPHA:899
HP:0001284	Areflexia	29954	POMT2	OMIM:613156
HP:0001284	Areflexia	9215	LARGE1	ORPHA:899
HP:0001284	Areflexia	9215	LARGE1	OMIM:613154
HP:0001284	Areflexia	1282	COL4A1	ORPHA:899
HP:0001284	Areflexia	10329	RXYLT1	ORPHA:899
HP:0001284	Areflexia	1605	DAG1	ORPHA:899
HP:0001284	Areflexia	11041	B4GAT1	ORPHA:899
HP:0001284	Areflexia	10585	POMT1	ORPHA:899
HP:0001284	Areflexia	84197	POMK	ORPHA:899
HP:0001284	Areflexia	2218	FKTN	ORPHA:899
HP:0001284	Areflexia	2218	FKTN	OMIM:253800
HP:0001284	Areflexia	55624	POMGNT1	ORPHA:899
HP:0001284	Areflexia	6904	TBCD	ORPHA:496641
HP:0001284	Areflexia	427	ASAH1	OMIM:159950
HP:0001284	Areflexia	4976	OPA1	ORPHA:98673
HP:0001284	Areflexia	25929	GEMIN5	OMIM:619333
HP:0001284	Areflexia	28982	FLVCR1	ORPHA:88628
HP:0001284	Areflexia	28982	FLVCR1	OMIM:609033
HP:0001284	Areflexia	55906	ZC4H2	OMIM:314580
HP:0001284	Areflexia	23345	SYNE1	OMIM:618484
HP:0001284	Areflexia	51008	ASCC1	OMIM:616867
HP:0001284	Areflexia	100134444	KCNJ18	OMIM:613239
HP:0001284	Areflexia	9325	TRIP4	OMIM:616866
HP:0001284	Areflexia	11145	PLAAT3	OMIM:620683
HP:0001284	Areflexia	3913	LAMB2	OMIM:609049
HP:0001284	Areflexia	3913	LAMB2	ORPHA:98915
HP:0001284	Areflexia	6606	SMN1	OMIM:253300
HP:0001284	Areflexia	4547	MTTP	ORPHA:14
HP:0001284	Areflexia	463	ZFHX3	OMIM:600223
HP:0001284	Areflexia	51305	KCNK9	ORPHA:166108
HP:0001284	Areflexia	64423	INF2	OMIM:614455
HP:0001284	Areflexia	3908	LAMA2	OMIM:618138
HP:0001284	Areflexia	3908	LAMA2	OMIM:607855
HP:0001284	Areflexia	89874	SLC25A21	OMIM:618811
HP:0001284	Areflexia	2065	ERBB3	OMIM:243180
HP:0001284	Areflexia	81790	RNF170	OMIM:608984
HP:0001284	Areflexia	64374	SIL1	ORPHA:559
HP:0001284	Areflexia	10755	GIPC1	ORPHA:98897
HP:0001284	Areflexia	100996717	NOTCH2NLC	ORPHA:98897
HP:0001284	Areflexia	9997	SCO2	OMIM:604377
HP:0001284	Areflexia	9997	SCO2	ORPHA:521411
HP:0001284	Areflexia	81857	MED25	OMIM:605589
HP:0001284	Areflexia	79784	MYH14	ORPHA:397744
HP:0001284	Areflexia	953	ENTPD1	ORPHA:401810
HP:0001284	Areflexia	340075	ARSI	ORPHA:401815
HP:0001284	Areflexia	4576	MT-TT	ORPHA:254857
HP:0001284	Areflexia	4762	NEUROG1	OMIM:620469
HP:0001284	Areflexia	8087	FXR1	OMIM:618822
HP:0001284	Areflexia	8087	FXR1	OMIM:618823
HP:0001284	Areflexia	1890	TYMP	OMIM:603041
HP:0001284	Areflexia	3032	HADHB	ORPHA:746
HP:0001284	Areflexia	3030	HADHA	ORPHA:746
HP:0001284	Areflexia	3030	HADHA	OMIM:609015
HP:0001284	Areflexia	4534	MTM1	OMIM:310400
HP:0001284	Areflexia	26047	CNTNAP2	ORPHA:163681
HP:0001284	Areflexia	283446	MYO1H	OMIM:619482
HP:0001284	Areflexia	476	ATP1A1	OMIM:618036
HP:0001284	Areflexia	23230	VPS13A	OMIM:200150
HP:0001284	Areflexia	1806	DPYD	ORPHA:1675
HP:0001284	Areflexia	2273	FHL1	OMIM:300717
HP:0001284	Areflexia	3295	HSD17B4	OMIM:233400
HP:0001284	Areflexia	60482	SLC5A7	ORPHA:98914
HP:0001284	Areflexia	4649	MYO9A	ORPHA:98914
HP:0001284	Areflexia	1305	COL13A1	ORPHA:98914
HP:0001284	Areflexia	1103	CHAT	ORPHA:98914
HP:0001284	Areflexia	6576	SLC25A1	ORPHA:98914
HP:0001284	Areflexia	375790	AGRN	ORPHA:98914
HP:0001284	Areflexia	6572	SLC18A3	ORPHA:98914
HP:0001284	Areflexia	8292	COLQ	ORPHA:98915
HP:0001284	Areflexia	859	CAV3	ORPHA:488650
HP:0001284	Areflexia	6663	SOX10	OMIM:609136
HP:0001284	Areflexia	29929	ALG6	OMIM:603147
HP:0001284	Areflexia	10558	SPTLC1	OMIM:162400
HP:0001284	Areflexia	5528	PPP2R5D	ORPHA:457279
HP:0001284	Areflexia	51099	ABHD5	ORPHA:98907
HP:0001284	Areflexia	7515	XRCC1	OMIM:617633
HP:0001284	Areflexia	55005	RMND1	OMIM:614922
HP:0001284	Areflexia	8799	PEX11B	OMIM:614920
HP:0001284	Areflexia	1073	CFL2	OMIM:610687
HP:0001284	Areflexia	57731	SPTBN4	OMIM:617519
HP:0001284	Areflexia	8139	GAN	ORPHA:643
HP:0001284	Areflexia	8139	GAN	OMIM:256850
HP:0001284	Areflexia	129285	PPP1R21	OMIM:619383
HP:0001284	Areflexia	55331	ACER3	OMIM:617762
HP:0001284	Areflexia	79587	CARS2	OMIM:616672
HP:0001284	Areflexia	1291	COL6A1	OMIM:158810
HP:0001284	Areflexia	8398	PLA2G6	OMIM:256600
HP:0001284	Areflexia	132001	TAMM41	OMIM:620139
HP:0001284	Areflexia	8449	DHX16	OMIM:618733
HP:0001284	Areflexia	3156	HMGCR	OMIM:620375
HP:0001284	Areflexia	246329	STAC3	OMIM:255995
HP:0001284	Areflexia	87178	PNPT1	ORPHA:101111
HP:0001284	Areflexia	87178	PNPT1	OMIM:608703
HP:0001284	Areflexia	3315	HSPB1	OMIM:608634
HP:0001284	Areflexia	3315	HSPB1	OMIM:606595
HP:0001284	Areflexia	51	ACOX1	OMIM:618960
HP:0001284	Areflexia	4099	MAG	OMIM:616680
HP:0001284	Areflexia	8888	MCM3AP	OMIM:618124
HP:0001284	Areflexia	2395	FXN	OMIM:229300
HP:0001284	Areflexia	2395	FXN	ORPHA:95
HP:0001284	Areflexia	6709	SPTAN1	OMIM:620528
HP:0001284	Areflexia	50484	RRM2B	ORPHA:329336
HP:0001284	Areflexia	246243	RNASEH1	ORPHA:329336
HP:0001284	Areflexia	2733	GLE1	OMIM:611890
HP:0001284	Areflexia	1674	DES	ORPHA:98909
HP:0001284	Areflexia	80208	SPG11	OMIM:616668
HP:0001284	Areflexia	4618	MYF6	ORPHA:169189
HP:0001284	Areflexia	6548	SLC9A1	OMIM:616291
HP:0001284	Areflexia	5611	DNAJC3	OMIM:616192
HP:0001284	Areflexia	5611	DNAJC3	ORPHA:445062
HP:0001284	Areflexia	8557	TCAP	OMIM:601954
HP:0001284	Areflexia	3508	IGHMBP2	OMIM:616155
HP:0001284	Areflexia	80347	COASY	OMIM:615643
HP:0001284	Areflexia	8884	SLC5A6	OMIM:619903
HP:0001284	Areflexia	84876	ORAI1	OMIM:615883
HP:0001284	Areflexia	3708	ITPR1	OMIM:206700
HP:0001284	Areflexia	374393	FAM111B	OMIM:615704
HP:0001284	Areflexia	3710	ITPR3	OMIM:620111
HP:0001284	Areflexia	6786	STIM1	OMIM:160565
HP:0001284	Areflexia	291	SLC25A4	ORPHA:254892
HP:0001284	Areflexia	11232	POLG2	ORPHA:254892
HP:0001284	Areflexia	1410	CRYAB	OMIM:608810
HP:0001284	Areflexia	4287	ATXN3	OMIM:109150
HP:0001284	Areflexia	57003	CCDC47	OMIM:618268
HP:0001284	Areflexia	7415	VCP	ORPHA:435387
HP:0001284	Areflexia	7415	VCP	OMIM:616687
HP:0001284	Areflexia	4361	MRE11	ORPHA:251347
HP:0001284	Areflexia	4361	MRE11	OMIM:604391
HP:0001284	Areflexia	5165	PDK3	OMIM:300905
HP:0001284	Areflexia	5165	PDK3	ORPHA:352675
HP:0001284	Areflexia	64837	KLC2	OMIM:609541
HP:0001284	Areflexia	10159	ATP6AP2	ORPHA:93952
HP:0001284	Areflexia	23204	ARL6IP1	OMIM:615685
HP:0001284	Areflexia	65055	REEP1	OMIM:614751
HP:0001284	Areflexia	65055	REEP1	OMIM:620011
HP:0001284	Areflexia	3035	HARS1	ORPHA:488333
HP:0001284	Areflexia	3035	HARS1	OMIM:616625
HP:0001284	Areflexia	26278	SACS	OMIM:270550
HP:0001284	Areflexia	26278	SACS	ORPHA:98
HP:0001284	Areflexia	10280	SIGMAR1	OMIM:605726
HP:0001284	Areflexia	8878	SQSTM1	OMIM:617158
HP:0001284	Areflexia	5832	ALDH18A1	ORPHA:447757
HP:0001284	Areflexia	5832	ALDH18A1	ORPHA:447760
HP:0001284	Areflexia	10020	GNE	ORPHA:602
HP:0001284	Areflexia	2632	GBE1	OMIM:263570
HP:0001284	Areflexia	84342	COG8	OMIM:611182
HP:0001284	Areflexia	1861	TOR1A	OMIM:128100
HP:0001284	Areflexia	5700	PSMC1	OMIM:620071
HP:0001284	Areflexia	59345	GNB4	OMIM:615185
HP:0001284	Areflexia	55958	KLHL9	ORPHA:399081
HP:0001284	Areflexia	5375	PMP2	OMIM:618279
HP:0001284	Areflexia	10516	FBLN5	OMIM:619764
HP:0001284	Areflexia	3977	LIFR	OMIM:601559
HP:0001284	Areflexia	3977	LIFR	ORPHA:3206
HP:0001284	Areflexia	8988	HSPB3	OMIM:613376
HP:0001284	Areflexia	7453	WARS1	OMIM:617721
HP:0001284	Areflexia	6607	SMN2	OMIM:253400
HP:0001284	Areflexia	22943	DKK1	ORPHA:268882
HP:0001284	Areflexia	7504	XK	OMIM:300842
HP:0001284	Areflexia	81570	CLPB	OMIM:616271
HP:0001284	Areflexia	11280	SCN11A	ORPHA:90026
HP:0001284	Areflexia	6336	SCN10A	ORPHA:90026
HP:0001284	Areflexia	8291	DYSF	OMIM:254130
HP:0001284	Areflexia	8291	DYSF	ORPHA:45448
HP:0001284	Areflexia	5238	PGM3	ORPHA:443811
HP:0001285	Spastic tetraparesis	84065	TMEM222	OMIM:619470
HP:0001285	Spastic tetraparesis	5354	PLP1	ORPHA:280224
HP:0001285	Spastic tetraparesis	5354	PLP1	ORPHA:280219
HP:0001285	Spastic tetraparesis	3763	KCNJ6	ORPHA:435628
HP:0001285	Spastic tetraparesis	3763	KCNJ6	OMIM:614098
HP:0001285	Spastic tetraparesis	11340	EXOSC8	OMIM:616081
HP:0001285	Spastic tetraparesis	8243	SMC1A	OMIM:301044
HP:0001285	Spastic tetraparesis	10617	STAMBP	OMIM:614261
HP:0001285	Spastic tetraparesis	51399	TRAPPC4	OMIM:618741
HP:0001285	Spastic tetraparesis	84879	MFSD2A	OMIM:616486
HP:0001285	Spastic tetraparesis	6659	SOX4	OMIM:618506
HP:0001285	Spastic tetraparesis	4337	MOCS1	OMIM:252150
HP:0001285	Spastic tetraparesis	7355	SLC35A2	ORPHA:356961
HP:0001285	Spastic tetraparesis	84334	COA8	ORPHA:436271
HP:0001285	Spastic tetraparesis	84334	COA8	OMIM:619061
HP:0001285	Spastic tetraparesis	90624	LYRM7	OMIM:615838
HP:0001285	Spastic tetraparesis	57679	ALS2	OMIM:606353
HP:0001285	Spastic tetraparesis	57679	ALS2	ORPHA:247604
HP:0001285	Spastic tetraparesis	57679	ALS2	OMIM:205100
HP:0001285	Spastic tetraparesis	6571	SLC18A2	ORPHA:352649
HP:0001285	Spastic tetraparesis	11160	ERLIN2	ORPHA:247604
HP:0001285	Spastic tetraparesis	170302	ARX	OMIM:308350
HP:0001285	Spastic tetraparesis	5660	PSAP	OMIM:249900
HP:0001285	Spastic tetraparesis	5631	PRPS1	ORPHA:423479
HP:0001285	Spastic tetraparesis	100147744	RNU7-1	OMIM:619487
HP:0001285	Spastic tetraparesis	60558	GUF1	OMIM:617065
HP:0001285	Spastic tetraparesis	6647	SOD1	OMIM:618598
HP:0001285	Spastic tetraparesis	51601	LIPT1	OMIM:616299
HP:0001285	Spastic tetraparesis	549	AUH	ORPHA:67046
HP:0001285	Spastic tetraparesis	6905	TBCE	ORPHA:496756
HP:0001285	Spastic tetraparesis	387787	LIPT2	OMIM:617668
HP:0001285	Spastic tetraparesis	473	RERE	OMIM:616975
HP:0001285	Spastic tetraparesis	4010	LMX1B	ORPHA:495818
HP:0001285	Spastic tetraparesis	6812	STXBP1	ORPHA:495818
HP:0001285	Spastic tetraparesis	10157	AASS	ORPHA:2203
HP:0001285	Spastic tetraparesis	79152	FA2H	ORPHA:171629
HP:0001285	Spastic tetraparesis	79152	FA2H	OMIM:612319
HP:0001285	Spastic tetraparesis	6621	SNAPC4	OMIM:620515
HP:0001285	Spastic tetraparesis	64135	IFIH1	OMIM:615846
HP:0001285	Spastic tetraparesis	498	ATP5F1A	OMIM:620358
HP:0001285	Spastic tetraparesis	5048	PAFAH1B1	OMIM:607432
HP:0001285	Spastic tetraparesis	56246	MRAP	OMIM:607398
HP:0001285	Spastic tetraparesis	79944	L2HGDH	OMIM:236792
HP:0001285	Spastic tetraparesis	79944	L2HGDH	ORPHA:79314
HP:0001285	Spastic tetraparesis	2192	FBLN1	ORPHA:404451
HP:0001285	Spastic tetraparesis	284403	WDR62	OMIM:604317
HP:0001285	Spastic tetraparesis	51204	TACO1	OMIM:619052
HP:0001285	Spastic tetraparesis	2937	GSS	OMIM:266130
HP:0001285	Spastic tetraparesis	65055	REEP1	ORPHA:101011
HP:0001285	Spastic tetraparesis	348	APOE	OMIM:607822
HP:0001285	Spastic tetraparesis	5663	PSEN1	OMIM:607822
HP:0001285	Spastic tetraparesis	4001	LMNB1	OMIM:619179
HP:0001285	Spastic tetraparesis	4508	MT-ATP6	ORPHA:225154
HP:0001285	Spastic tetraparesis	23636	NUP62	ORPHA:225154
HP:0001285	Spastic tetraparesis	53371	NUP54	ORPHA:225154
HP:0001285	Spastic tetraparesis	103	ADAR	ORPHA:225154
HP:0001285	Spastic tetraparesis	7143	TNR	OMIM:619653
HP:0001285	Spastic tetraparesis	3899	AFF3	OMIM:619297
HP:0001285	Spastic tetraparesis	215	ABCD1	ORPHA:139396
HP:0001285	Spastic tetraparesis	6389	SDHA	ORPHA:3208
HP:0001285	Spastic tetraparesis	6390	SDHB	ORPHA:3208
HP:0001285	Spastic tetraparesis	6392	SDHD	ORPHA:3208
HP:0001285	Spastic tetraparesis	644096	SDHAF1	ORPHA:3208
HP:0001285	Spastic tetraparesis	29960	MRM2	OMIM:618567
HP:0001285	Spastic tetraparesis	8398	PLA2G6	ORPHA:35069
HP:0001285	Spastic tetraparesis	10195	ALG3	ORPHA:79321
HP:0001285	Spastic tetraparesis	10195	ALG3	OMIM:601110
HP:0001285	Spastic tetraparesis	124454	EARS2	OMIM:614924
HP:0001285	Spastic tetraparesis	29968	PSAT1	ORPHA:284417
HP:0001285	Spastic tetraparesis	27247	NFU1	OMIM:605711
HP:0001285	Spastic tetraparesis	1968	EIF2S3	OMIM:300148
HP:0001285	Spastic tetraparesis	58497	PRUNE1	OMIM:617481
HP:0001285	Spastic tetraparesis	58497	PRUNE1	ORPHA:544469
HP:0001285	Spastic tetraparesis	84188	FAR1	ORPHA:438178
HP:0001285	Spastic tetraparesis	84188	FAR1	OMIM:616154
HP:0001285	Spastic tetraparesis	221692	PHACTR1	OMIM:618298
HP:0001285	Spastic tetraparesis	523	ATP6V1A	OMIM:618012
HP:0001285	Spastic tetraparesis	3785	KCNQ2	OMIM:613720
HP:0001285	Spastic tetraparesis	1974	EIF4A2	OMIM:620455
HP:0001285	Spastic tetraparesis	56978	PRDM8	ORPHA:324290
HP:0001285	Spastic tetraparesis	54808	DYM	ORPHA:239
HP:0001285	Spastic tetraparesis	2760	GM2A	OMIM:272750
HP:0001285	Spastic tetraparesis	90952	ESAM	OMIM:620371
HP:0001285	Spastic tetraparesis	3028	HSD17B10	ORPHA:391428
HP:0001287	Meningitis	26191	PTPN22	ORPHA:397
HP:0001287	Meningitis	26191	PTPN22	ORPHA:900
HP:0001287	Meningitis	3106	HLA-B	ORPHA:397
HP:0001287	Meningitis	3106	HLA-B	ORPHA:117
HP:0001287	Meningitis	3123	HLA-DRB1	ORPHA:397
HP:0001287	Meningitis	3123	HLA-DRB1	ORPHA:545
HP:0001287	Meningitis	8974	P4HA2	ORPHA:397
HP:0001287	Meningitis	64170	CARD9	OMIM:212050
HP:0001287	Meningitis	695	BTK	OMIM:300755
HP:0001287	Meningitis	695	BTK	ORPHA:47
HP:0001287	Meningitis	695	BTK	OMIM:307200
HP:0001287	Meningitis	54820	NDE1	ORPHA:2177
HP:0001287	Meningitis	7454	WAS	ORPHA:906
HP:0001287	Meningitis	7456	WIPF1	ORPHA:906
HP:0001287	Meningitis	1493	CTLA4	ORPHA:900
HP:0001287	Meningitis	3115	HLA-DPB1	ORPHA:900
HP:0001287	Meningitis	5657	PRTN3	ORPHA:900
HP:0001287	Meningitis	3113	HLA-DPA1	ORPHA:900
HP:0001287	Meningitis	1776	DNASE1L3	ORPHA:36412
HP:0001287	Meningitis	596	BCL2	ORPHA:545
HP:0001287	Meningitis	3492	IGH	ORPHA:545
HP:0001287	Meningitis	604	BCL6	ORPHA:545
HP:0001287	Meningitis	959	CD40LG	OMIM:308230
HP:0001287	Meningitis	4210	MEFV	ORPHA:342
HP:0001287	Meningitis	4210	MEFV	OMIM:249100
HP:0001287	Meningitis	4210	MEFV	ORPHA:117
HP:0001287	Meningitis	5551	PRF1	OMIM:603553
HP:0001287	Meningitis	5896	RAG1	OMIM:601457
HP:0001287	Meningitis	5897	RAG2	OMIM:601457
HP:0001287	Meningitis	58484	NLRC4	OMIM:616050
HP:0001287	Meningitis	3718	JAK3	OMIM:600802
HP:0001287	Meningitis	629	CFB	OMIM:615561
HP:0001287	Meningitis	3110	MNX1	ORPHA:1552
HP:0001287	Meningitis	3543	IGLL1	OMIM:613500
HP:0001287	Meningitis	3543	IGLL1	ORPHA:33110
HP:0001287	Meningitis	8456	FOXN1	ORPHA:83471
HP:0001287	Meningitis	732	C8B	OMIM:613789
HP:0001287	Meningitis	29110	TBK1	OMIM:617900
HP:0001287	Meningitis	114548	NLRP3	OMIM:607115
HP:0001287	Meningitis	114548	NLRP3	ORPHA:1451
HP:0001287	Meningitis	51135	IRAK4	OMIM:607676
HP:0001287	Meningitis	1536	CYBB	ORPHA:379
HP:0001287	Meningitis	4688	NCF2	ORPHA:379
HP:0001287	Meningitis	1535	CYBA	ORPHA:379
HP:0001287	Meningitis	4689	NCF4	ORPHA:379
HP:0001287	Meningitis	653361	NCF1	ORPHA:379
HP:0001287	Meningitis	79415	CYBC1	ORPHA:379
HP:0001287	Meningitis	4068	SH2D1A	OMIM:308240
HP:0001287	Meningitis	331	XIAP	OMIM:308240
HP:0001287	Meningitis	2215	FCGR3B	ORPHA:464370
HP:0001287	Meningitis	115650	TNFRSF13C	OMIM:240500
HP:0001287	Meningitis	29851	ICOS	OMIM:240500
HP:0001287	Meningitis	930	CD19	OMIM:240500
HP:0001287	Meningitis	23495	TNFRSF13B	OMIM:240500
HP:0001287	Meningitis	1380	CR2	OMIM:240500
HP:0001287	Meningitis	7037	TFRC	OMIM:616740
HP:0001287	Meningitis	731	C8A	OMIM:613790
HP:0001287	Meningitis	57591	MRTFA	OMIM:618847
HP:0001287	Meningitis	50943	FOXP3	ORPHA:37042
HP:0001287	Meningitis	10095	ARPC1B	OMIM:617718
HP:0001287	Meningitis	81839	VANGL1	OMIM:600145
HP:0001287	Meningitis	7852	CXCR4	ORPHA:51636
HP:0001287	Meningitis	7098	TLR3	OMIM:613002
HP:0001287	Meningitis	721	C4B	OMIM:614379
HP:0001287	Meningitis	6688	SPI1	OMIM:619707
HP:0001287	Meningitis	6688	SPI1	ORPHA:33110
HP:0001287	Meningitis	6929	TCF3	ORPHA:33110
HP:0001287	Meningitis	7922	SLC39A7	ORPHA:33110
HP:0001287	Meningitis	973	CD79A	ORPHA:33110
HP:0001287	Meningitis	974	CD79B	ORPHA:33110
HP:0001287	Meningitis	3507	IGHM	ORPHA:33110
HP:0001287	Meningitis	29760	BLNK	ORPHA:33110
HP:0001287	Meningitis	5295	PIK3R1	ORPHA:33110
HP:0001287	Meningitis	56262	LRRC8A	ORPHA:33110
HP:0001287	Meningitis	149233	IL23R	ORPHA:117
HP:0001287	Meningitis	6775	STAT4	ORPHA:117
HP:0001287	Meningitis	3586	IL10	ORPHA:117
HP:0001287	Meningitis	1230	CCR1	ORPHA:117
HP:0001287	Meningitis	355	FAS	ORPHA:117
HP:0001287	Meningitis	3592	IL12A	ORPHA:117
HP:0001287	Meningitis	101928376	IL12A-AS1	ORPHA:117
HP:0001287	Meningitis	7099	TLR4	ORPHA:117
HP:0001287	Meningitis	3459	IFNGR1	ORPHA:117
HP:0001287	Meningitis	720	C4A	ORPHA:117
HP:0001287	Meningitis	337867	UBAC2	ORPHA:117
HP:0001287	Meningitis	51752	ERAP1	ORPHA:117
HP:0001287	Meningitis	8302	KLRC4	ORPHA:117
HP:0001287	Meningitis	4261	CIITA	OMIM:209920
HP:0001287	Meningitis	55343	SLC35C1	ORPHA:99843
HP:0001287	Meningitis	3574	IL7	OMIM:618309
HP:0001289	Confusion	6584	SLC22A5	ORPHA:158
HP:0001289	Confusion	6584	SLC22A5	OMIM:212140
HP:0001289	Confusion	5621	PRNP	ORPHA:282166
HP:0001289	Confusion	5621	PRNP	OMIM:123400
HP:0001289	Confusion	8029	CUBN	OMIM:261100
HP:0001289	Confusion	54832	VPS13C	OMIM:616840
HP:0001289	Confusion	6261	RYR1	ORPHA:466650
HP:0001289	Confusion	9881	TRANK1	ORPHA:33543
HP:0001289	Confusion	4125	MAN2B1	ORPHA:309282
HP:0001289	Confusion	4125	MAN2B1	ORPHA:309288
HP:0001289	Confusion	3712	IVD	ORPHA:33
HP:0001289	Confusion	8722	CTSF	OMIM:615362
HP:0001289	Confusion	1135	CHRNA2	OMIM:610353
HP:0001289	Confusion	11093	ADAMTS13	OMIM:274150
HP:0001289	Confusion	10166	SLC25A15	ORPHA:415
HP:0001289	Confusion	10166	SLC25A15	OMIM:238970
HP:0001289	Confusion	10165	SLC25A13	OMIM:603471
HP:0001289	Confusion	10165	SLC25A13	ORPHA:247585
HP:0001289	Confusion	215	ABCD1	ORPHA:139396
HP:0001289	Confusion	3119	HLA-DQB1	OMIM:123400
HP:0001289	Confusion	773	CACNA1A	ORPHA:569
HP:0001289	Confusion	773	CACNA1A	OMIM:141500
HP:0001289	Confusion	112476	PRRT2	ORPHA:569
HP:0001289	Confusion	6323	SCN1A	ORPHA:569
HP:0001289	Confusion	477	ATP1A2	ORPHA:569
HP:0001289	Confusion	477	ATP1A2	OMIM:602481
HP:0001289	Confusion	7276	TTR	OMIM:105210
HP:0001289	Confusion	23400	ATP13A2	ORPHA:306674
HP:0001289	Confusion	7098	TLR3	OMIM:613002
HP:0001289	Confusion	6908	TBP	OMIM:607136
HP:0001289	Confusion	8659	ALDH4A1	ORPHA:79101
HP:0001289	Confusion	378884	NHLRC1	ORPHA:501
HP:0001289	Confusion	7957	EPM2A	ORPHA:501
HP:0001289	Confusion	80704	SLC19A3	OMIM:607483
HP:0001289	Confusion	80704	SLC19A3	ORPHA:263410
HP:0001289	Confusion	162417	NAGS	OMIM:237310
HP:0001289	Confusion	162417	NAGS	ORPHA:927
HP:0001289	Confusion	2068	ERCC2	ORPHA:220295
HP:0001289	Confusion	2073	ERCC5	ORPHA:220295
HP:0001289	Confusion	2072	ERCC4	ORPHA:220295
HP:0001289	Confusion	2071	ERCC3	ORPHA:220295
HP:0001289	Confusion	29110	TBK1	OMIM:617900
HP:0001289	Confusion	3033	HADH	ORPHA:71212
HP:0001289	Confusion	11128	POLR3A	ORPHA:3455
HP:0001289	Confusion	4854	NOTCH3	ORPHA:136
HP:0001289	Confusion	4221	MEN1	ORPHA:652
HP:0001289	Confusion	1027	CDKN1B	ORPHA:652
HP:0001289	Confusion	1026	CDKN1A	ORPHA:652
HP:0001289	Confusion	1030	CDKN2B	ORPHA:652
HP:0001289	Confusion	1031	CDKN2C	ORPHA:652
HP:0001289	Confusion	6513	SLC2A1	OMIM:606777
HP:0001289	Confusion	6513	SLC2A1	ORPHA:71277
HP:0001289	Confusion	210	ALAD	ORPHA:100924
HP:0001289	Confusion	5663	PSEN1	ORPHA:1020
HP:0001289	Confusion	5664	PSEN2	ORPHA:1020
HP:0001289	Confusion	5664	PSEN2	OMIM:606889
HP:0001289	Confusion	10452	TOMM40	ORPHA:1020
HP:0001289	Confusion	351	APP	ORPHA:1020
HP:0001289	Confusion	54209	TREM2	ORPHA:1020
HP:0001289	Confusion	10347	ABCA7	ORPHA:1020
HP:0001289	Confusion	6653	SORL1	ORPHA:1020
HP:0001289	Confusion	2778	GNAS	ORPHA:79443
HP:0001289	Confusion	2778	GNAS	ORPHA:79444
HP:0001289	Confusion	1371	CPOX	OMIM:121300
HP:0001289	Confusion	348	APOE	OMIM:606889
HP:0001289	Confusion	7388	UQCRH	OMIM:620137
HP:0001289	Confusion	3145	HMBS	ORPHA:79276
HP:0001289	Confusion	56978	PRDM8	ORPHA:324290
HP:0001289	Confusion	5052	PRDX1	OMIM:277400
HP:0001289	Confusion	25974	MMACHC	OMIM:277400
HP:0001289	Confusion	149233	IL23R	ORPHA:117
HP:0001289	Confusion	6775	STAT4	ORPHA:117
HP:0001289	Confusion	3586	IL10	ORPHA:117
HP:0001289	Confusion	4210	MEFV	ORPHA:117
HP:0001289	Confusion	1230	CCR1	ORPHA:117
HP:0001289	Confusion	355	FAS	ORPHA:117
HP:0001289	Confusion	3592	IL12A	ORPHA:117
HP:0001289	Confusion	101928376	IL12A-AS1	ORPHA:117
HP:0001289	Confusion	3106	HLA-B	ORPHA:117
HP:0001289	Confusion	7099	TLR4	ORPHA:117
HP:0001289	Confusion	3459	IFNGR1	ORPHA:117
HP:0001289	Confusion	720	C4A	ORPHA:117
HP:0001289	Confusion	337867	UBAC2	ORPHA:117
HP:0001289	Confusion	51752	ERAP1	ORPHA:117
HP:0001289	Confusion	8302	KLRC4	ORPHA:117
HP:0001289	Confusion	5009	OTC	ORPHA:664
HP:0001289	Confusion	9896	FIG4	ORPHA:208441
HP:0001289	Confusion	9896	FIG4	OMIM:612691
HP:0001289	Confusion	1786	DNMT1	OMIM:614116
HP:0001289	Confusion	4556	MT-TE	ORPHA:2596
HP:0001290	Generalized hypotonia	2137	EXTL3	ORPHA:508533
HP:0001290	Generalized hypotonia	8036	SHOC2	OMIM:607721
HP:0001290	Generalized hypotonia	1145	CHRNE	OMIM:608931
HP:0001290	Generalized hypotonia	1145	CHRNE	OMIM:605809
HP:0001290	Generalized hypotonia	2673	GFPT1	OMIM:608931
HP:0001290	Generalized hypotonia	2673	GFPT1	ORPHA:353327
HP:0001290	Generalized hypotonia	10617	STAMBP	OMIM:614261
HP:0001290	Generalized hypotonia	104	ADARB1	OMIM:618862
HP:0001290	Generalized hypotonia	23019	CNOT1	OMIM:618500
HP:0001290	Generalized hypotonia	23019	CNOT1	OMIM:619033
HP:0001290	Generalized hypotonia	28981	IFT81	OMIM:617895
HP:0001290	Generalized hypotonia	50651	SLC45A1	OMIM:617532
HP:0001290	Generalized hypotonia	51569	UFM1	OMIM:617899
HP:0001290	Generalized hypotonia	1024	CDK8	OMIM:618748
HP:0001290	Generalized hypotonia	6659	SOX4	OMIM:618506
HP:0001290	Generalized hypotonia	51126	NAA20	OMIM:619717
HP:0001290	Generalized hypotonia	10059	DNM1L	OMIM:614388
HP:0001290	Generalized hypotonia	60684	TRAPPC11	OMIM:615356
HP:0001290	Generalized hypotonia	4860	PNP	OMIM:613179
HP:0001290	Generalized hypotonia	6228	RPS23	OMIM:617412
HP:0001290	Generalized hypotonia	9254	CACNA2D2	OMIM:618501
HP:0001290	Generalized hypotonia	23417	MLYCD	OMIM:248360
HP:0001290	Generalized hypotonia	2720	GLB1	OMIM:230600
HP:0001290	Generalized hypotonia	84334	COA8	ORPHA:436271
HP:0001290	Generalized hypotonia	5830	PEX5	OMIM:214110
HP:0001290	Generalized hypotonia	64220	STRA6	OMIM:601186
HP:0001290	Generalized hypotonia	2731	GLDC	OMIM:605899
HP:0001290	Generalized hypotonia	79848	CSPP1	ORPHA:397715
HP:0001290	Generalized hypotonia	9786	KIAA0586	ORPHA:397715
HP:0001290	Generalized hypotonia	9786	KIAA0586	OMIM:616546
HP:0001290	Generalized hypotonia	197131	UBR1	OMIM:243800
HP:0001290	Generalized hypotonia	65267	WNK3	OMIM:309610
HP:0001290	Generalized hypotonia	116931	MED12L	OMIM:618872
HP:0001290	Generalized hypotonia	80816	ASXL3	OMIM:615485
HP:0001290	Generalized hypotonia	10026	PIGK	OMIM:618879
HP:0001290	Generalized hypotonia	1785	DNM2	OMIM:615368
HP:0001290	Generalized hypotonia	1785	DNM2	OMIM:160150
HP:0001290	Generalized hypotonia	1785	DNM2	ORPHA:169189
HP:0001290	Generalized hypotonia	2782	GNB1	ORPHA:488613
HP:0001290	Generalized hypotonia	526	ATP6V1B2	OMIM:616455
HP:0001290	Generalized hypotonia	55690	PACS1	OMIM:615009
HP:0001290	Generalized hypotonia	55904	KMT2E	OMIM:618512
HP:0001290	Generalized hypotonia	120227	CYP2R1	OMIM:600081
HP:0001290	Generalized hypotonia	120227	CYP2R1	ORPHA:289157
HP:0001290	Generalized hypotonia	79158	GNPTAB	OMIM:252500
HP:0001290	Generalized hypotonia	5189	PEX1	OMIM:214100
HP:0001290	Generalized hypotonia	5189	PEX1	OMIM:601539
HP:0001290	Generalized hypotonia	55650	PIGV	OMIM:239300
HP:0001290	Generalized hypotonia	23474	ETHE1	ORPHA:51188
HP:0001290	Generalized hypotonia	410	ARSA	ORPHA:309271
HP:0001290	Generalized hypotonia	410	ARSA	ORPHA:309263
HP:0001290	Generalized hypotonia	410	ARSA	OMIM:250100
HP:0001290	Generalized hypotonia	410	ARSA	ORPHA:309256
HP:0001290	Generalized hypotonia	5660	PSAP	ORPHA:309271
HP:0001290	Generalized hypotonia	5660	PSAP	ORPHA:309263
HP:0001290	Generalized hypotonia	5660	PSAP	ORPHA:309256
HP:0001290	Generalized hypotonia	10559	SLC35A1	OMIM:603585
HP:0001290	Generalized hypotonia	79868	ALG13	ORPHA:324422
HP:0001290	Generalized hypotonia	55687	TRMU	OMIM:613070
HP:0001290	Generalized hypotonia	55687	TRMU	ORPHA:254864
HP:0001290	Generalized hypotonia	288	ANK3	OMIM:615493
HP:0001290	Generalized hypotonia	2590	GALNT2	OMIM:618885
HP:0001290	Generalized hypotonia	818	CAMK2G	OMIM:618522
HP:0001290	Generalized hypotonia	55154	MSTO1	OMIM:617675
HP:0001290	Generalized hypotonia	55154	MSTO1	ORPHA:502423
HP:0001290	Generalized hypotonia	1759	DNM1	OMIM:616346
HP:0001290	Generalized hypotonia	1759	DNM1	ORPHA:442835
HP:0001290	Generalized hypotonia	1759	DNM1	OMIM:620352
HP:0001290	Generalized hypotonia	7436	VLDLR	OMIM:224050
HP:0001290	Generalized hypotonia	83480	PUS3	ORPHA:488627
HP:0001290	Generalized hypotonia	4620	MYH2	OMIM:605637
HP:0001290	Generalized hypotonia	6872	TAF1	ORPHA:480907
HP:0001290	Generalized hypotonia	6872	TAF1	OMIM:300966
HP:0001290	Generalized hypotonia	79147	FKRP	ORPHA:34515
HP:0001290	Generalized hypotonia	79147	FKRP	ORPHA:370980
HP:0001290	Generalized hypotonia	8726	EED	OMIM:617561
HP:0001290	Generalized hypotonia	1303	COL12A1	OMIM:616471
HP:0001290	Generalized hypotonia	1303	COL12A1	ORPHA:75840
HP:0001290	Generalized hypotonia	54968	TMEM70	OMIM:614052
HP:0001290	Generalized hypotonia	4330	MN1	OMIM:618774
HP:0001290	Generalized hypotonia	1594	CYP27B1	OMIM:264700
HP:0001290	Generalized hypotonia	1594	CYP27B1	ORPHA:289157
HP:0001290	Generalized hypotonia	88	ACTN2	OMIM:618654
HP:0001290	Generalized hypotonia	5528	PPP2R5D	OMIM:616355
HP:0001290	Generalized hypotonia	5528	PPP2R5D	ORPHA:457279
HP:0001290	Generalized hypotonia	39	ACAT2	OMIM:614055
HP:0001290	Generalized hypotonia	388962	BOLA3	OMIM:614299
HP:0001290	Generalized hypotonia	2783	GNB2	OMIM:619503
HP:0001290	Generalized hypotonia	79731	NARS2	OMIM:616239
HP:0001290	Generalized hypotonia	3737	KCNA2	ORPHA:442835
HP:0001290	Generalized hypotonia	8120	AP3B2	ORPHA:442835
HP:0001290	Generalized hypotonia	8120	AP3B2	OMIM:617276
HP:0001290	Generalized hypotonia	523	ATP6V1A	ORPHA:442835
HP:0001290	Generalized hypotonia	10991	SLC38A3	ORPHA:442835
HP:0001290	Generalized hypotonia	51343	FZR1	ORPHA:442835
HP:0001290	Generalized hypotonia	3747	KCNC2	ORPHA:442835
HP:0001290	Generalized hypotonia	1917	EEF1A2	ORPHA:442835
HP:0001290	Generalized hypotonia	23219	FBXO28	ORPHA:442835
HP:0001290	Generalized hypotonia	2561	GABRB2	ORPHA:442835
HP:0001290	Generalized hypotonia	8831	SYNGAP1	ORPHA:442835
HP:0001290	Generalized hypotonia	2558	GABRA5	ORPHA:442835
HP:0001290	Generalized hypotonia	2558	GABRA5	OMIM:618559
HP:0001290	Generalized hypotonia	2906	GRIN2D	ORPHA:442835
HP:0001290	Generalized hypotonia	116150	NUS1	ORPHA:442835
HP:0001290	Generalized hypotonia	116150	NUS1	OMIM:617082
HP:0001290	Generalized hypotonia	1213	CLTC	ORPHA:442835
HP:0001290	Generalized hypotonia	51741	WWOX	ORPHA:442835
HP:0001290	Generalized hypotonia	23334	SZT2	ORPHA:442835
HP:0001290	Generalized hypotonia	348980	HCN1	ORPHA:442835
HP:0001290	Generalized hypotonia	25977	NECAP1	ORPHA:442835
HP:0001290	Generalized hypotonia	25977	NECAP1	OMIM:615833
HP:0001290	Generalized hypotonia	23241	PACS2	ORPHA:442835
HP:0001290	Generalized hypotonia	16	AARS1	ORPHA:442835
HP:0001290	Generalized hypotonia	16	AARS1	ORPHA:33364
HP:0001290	Generalized hypotonia	6334	SCN8A	ORPHA:442835
HP:0001290	Generalized hypotonia	6334	SCN8A	OMIM:614306
HP:0001290	Generalized hypotonia	9568	GABBR2	ORPHA:442835
HP:0001290	Generalized hypotonia	9568	GABBR2	OMIM:617904
HP:0001290	Generalized hypotonia	2555	GABRA2	ORPHA:442835
HP:0001290	Generalized hypotonia	2555	GABRA2	OMIM:618557
HP:0001290	Generalized hypotonia	55152	DALRD3	ORPHA:442835
HP:0001290	Generalized hypotonia	55152	DALRD3	OMIM:618910
HP:0001290	Generalized hypotonia	26999	CYFIP2	ORPHA:442835
HP:0001290	Generalized hypotonia	26999	CYFIP2	OMIM:618008
HP:0001290	Generalized hypotonia	4915	NTRK2	ORPHA:442835
HP:0001290	Generalized hypotonia	4915	NTRK2	OMIM:617830
HP:0001290	Generalized hypotonia	25973	PARS2	ORPHA:442835
HP:0001290	Generalized hypotonia	23097	CDK19	ORPHA:442835
HP:0001290	Generalized hypotonia	2257	FGF12	ORPHA:442835
HP:0001290	Generalized hypotonia	5530	PPP3CA	ORPHA:442835
HP:0001290	Generalized hypotonia	478	ATP1A3	ORPHA:442835
HP:0001290	Generalized hypotonia	478	ATP1A3	ORPHA:71517
HP:0001290	Generalized hypotonia	22906	TRAK1	ORPHA:442835
HP:0001290	Generalized hypotonia	2566	GABRG2	ORPHA:442835
HP:0001290	Generalized hypotonia	7532	YWHAG	ORPHA:442835
HP:0001290	Generalized hypotonia	79876	UBA5	ORPHA:442835
HP:0001290	Generalized hypotonia	6328	SCN3A	ORPHA:442835
HP:0001290	Generalized hypotonia	6328	SCN3A	OMIM:617938
HP:0001290	Generalized hypotonia	781	CACNA2D1	ORPHA:442835
HP:0001290	Generalized hypotonia	10659	CELF2	ORPHA:442835
HP:0001290	Generalized hypotonia	774	CACNA1B	ORPHA:442835
HP:0001290	Generalized hypotonia	51412	ACTL6B	ORPHA:442835
HP:0001290	Generalized hypotonia	2290	FOXG1	ORPHA:442835
HP:0001290	Generalized hypotonia	2290	FOXG1	OMIM:613454
HP:0001290	Generalized hypotonia	6506	SLC1A2	ORPHA:442835
HP:0001290	Generalized hypotonia	6506	SLC1A2	OMIM:617105
HP:0001290	Generalized hypotonia	8867	SYNJ1	ORPHA:442835
HP:0001290	Generalized hypotonia	477	ATP1A2	ORPHA:442835
HP:0001290	Generalized hypotonia	3745	KCNB1	ORPHA:442835
HP:0001290	Generalized hypotonia	284111	SLC13A5	ORPHA:442835
HP:0001290	Generalized hypotonia	22866	CNKSR2	ORPHA:442835
HP:0001290	Generalized hypotonia	773	CACNA1A	ORPHA:442835
HP:0001290	Generalized hypotonia	773	CACNA1A	OMIM:617106
HP:0001290	Generalized hypotonia	6323	SCN1A	ORPHA:442835
HP:0001290	Generalized hypotonia	79947	DHDDS	ORPHA:442835
HP:0001290	Generalized hypotonia	79947	DHDDS	OMIM:617836
HP:0001290	Generalized hypotonia	3782	KCNN3	OMIM:618658
HP:0001290	Generalized hypotonia	6905	TBCE	OMIM:617207
HP:0001290	Generalized hypotonia	6905	TBCE	ORPHA:496756
HP:0001290	Generalized hypotonia	284439	SLC25A42	OMIM:618416
HP:0001290	Generalized hypotonia	8642	DCHS1	OMIM:601390
HP:0001290	Generalized hypotonia	4247	MGAT2	OMIM:212066
HP:0001290	Generalized hypotonia	4247	MGAT2	ORPHA:79329
HP:0001290	Generalized hypotonia	8241	RBM10	OMIM:311900
HP:0001290	Generalized hypotonia	8241	RBM10	ORPHA:2886
HP:0001290	Generalized hypotonia	1947	EFNB1	OMIM:304110
HP:0001290	Generalized hypotonia	11285	B4GALT7	OMIM:130070
HP:0001290	Generalized hypotonia	1187	CLCNKA	OMIM:613090
HP:0001290	Generalized hypotonia	1188	CLCNKB	OMIM:613090
HP:0001290	Generalized hypotonia	253738	EBF3	OMIM:617330
HP:0001290	Generalized hypotonia	1186	CLCN7	OMIM:618541
HP:0001290	Generalized hypotonia	339983	NAT8L	OMIM:614063
HP:0001290	Generalized hypotonia	54880	BCOR	OMIM:309800
HP:0001290	Generalized hypotonia	8260	NAA10	OMIM:309800
HP:0001290	Generalized hypotonia	8260	NAA10	ORPHA:276432
HP:0001290	Generalized hypotonia	23512	SUZ12	OMIM:618786
HP:0001290	Generalized hypotonia	29081	METTL5	OMIM:618665
HP:0001290	Generalized hypotonia	8879	SGPL1	OMIM:617575
HP:0001290	Generalized hypotonia	51604	PIGT	OMIM:615398
HP:0001290	Generalized hypotonia	84504	NKX6-2	ORPHA:527497
HP:0001290	Generalized hypotonia	23126	POGZ	OMIM:616364
HP:0001290	Generalized hypotonia	55773	TBC1D23	OMIM:617695
HP:0001290	Generalized hypotonia	8558	CDK10	OMIM:617694
HP:0001290	Generalized hypotonia	51633	OTUD6B	OMIM:617452
HP:0001290	Generalized hypotonia	51633	OTUD6B	ORPHA:505237
HP:0001290	Generalized hypotonia	92609	TIMM50	OMIM:617698
HP:0001290	Generalized hypotonia	2592	GALT	OMIM:230400
HP:0001290	Generalized hypotonia	8021	NUP214	OMIM:618426
HP:0001290	Generalized hypotonia	2643	GCH1	OMIM:233910
HP:0001290	Generalized hypotonia	7337	UBE3A	OMIM:105830
HP:0001290	Generalized hypotonia	6638	SNRPN	OMIM:105830
HP:0001290	Generalized hypotonia	166785	MMAA	OMIM:251100
HP:0001290	Generalized hypotonia	5551	PRF1	OMIM:603553
HP:0001290	Generalized hypotonia	8818	DPM2	OMIM:615042
HP:0001290	Generalized hypotonia	8818	DPM2	ORPHA:329178
HP:0001290	Generalized hypotonia	122961	ISCA2	OMIM:616370
HP:0001290	Generalized hypotonia	8733	GPAA1	ORPHA:529665
HP:0001290	Generalized hypotonia	5621	PRNP	ORPHA:157941
HP:0001290	Generalized hypotonia	7358	UGDH	OMIM:618792
HP:0001290	Generalized hypotonia	59336	PRDM13	OMIM:619761
HP:0001290	Generalized hypotonia	200424	TET3	OMIM:618798
HP:0001290	Generalized hypotonia	9772	TMEM94	OMIM:618316
HP:0001290	Generalized hypotonia	124583	CANT1	OMIM:251450
HP:0001290	Generalized hypotonia	51567	TDP2	ORPHA:404493
HP:0001290	Generalized hypotonia	51567	TDP2	OMIM:616949
HP:0001290	Generalized hypotonia	57104	PNPLA2	OMIM:610717
HP:0001290	Generalized hypotonia	57104	PNPLA2	ORPHA:98908
HP:0001290	Generalized hypotonia	2271	FH	OMIM:606812
HP:0001290	Generalized hypotonia	23556	PIGN	OMIM:614080
HP:0001290	Generalized hypotonia	4351	MPI	OMIM:602579
HP:0001290	Generalized hypotonia	3835	KIF22	OMIM:603546
HP:0001290	Generalized hypotonia	23007	PLCH1	OMIM:619895
HP:0001290	Generalized hypotonia	6324	SCN1B	OMIM:617350
HP:0001290	Generalized hypotonia	9922	IQSEC1	OMIM:618687
HP:0001290	Generalized hypotonia	85365	ALG2	OMIM:607906
HP:0001290	Generalized hypotonia	85365	ALG2	ORPHA:353327
HP:0001290	Generalized hypotonia	2562	GABRB3	OMIM:617113
HP:0001290	Generalized hypotonia	125988	MICOS13	OMIM:618329
HP:0001290	Generalized hypotonia	4099	MAG	ORPHA:459056
HP:0001290	Generalized hypotonia	64919	BCL11B	OMIM:617237
HP:0001290	Generalized hypotonia	7994	KAT6A	OMIM:616268
HP:0001290	Generalized hypotonia	9725	TMEM63A	OMIM:618688
HP:0001290	Generalized hypotonia	6261	RYR1	ORPHA:324581
HP:0001290	Generalized hypotonia	6261	RYR1	ORPHA:169186
HP:0001290	Generalized hypotonia	6261	RYR1	ORPHA:169189
HP:0001290	Generalized hypotonia	6261	RYR1	ORPHA:98905
HP:0001290	Generalized hypotonia	404672	GTF2H5	ORPHA:33364
HP:0001290	Generalized hypotonia	833	CARS1	ORPHA:33364
HP:0001290	Generalized hypotonia	2068	ERCC2	ORPHA:33364
HP:0001290	Generalized hypotonia	7737	RNF113A	ORPHA:33364
HP:0001290	Generalized hypotonia	136647	MPLKIP	ORPHA:33364
HP:0001290	Generalized hypotonia	6897	TARS1	ORPHA:33364
HP:0001290	Generalized hypotonia	2071	ERCC3	ORPHA:33364
HP:0001290	Generalized hypotonia	2961	GTF2E2	ORPHA:33364
HP:0001290	Generalized hypotonia	79087	ALG12	ORPHA:79324
HP:0001290	Generalized hypotonia	79087	ALG12	OMIM:607143
HP:0001290	Generalized hypotonia	57192	MCOLN1	OMIM:252650
HP:0001290	Generalized hypotonia	1967	EIF2B1	OMIM:603896
HP:0001290	Generalized hypotonia	54903	MKS1	OMIM:617121
HP:0001290	Generalized hypotonia	7040	TGFB1	OMIM:618213
HP:0001290	Generalized hypotonia	4633	MYL2	OMIM:619424
HP:0001290	Generalized hypotonia	1892	ECHS1	OMIM:616277
HP:0001290	Generalized hypotonia	5587	PRKD1	OMIM:617364
HP:0001290	Generalized hypotonia	27429	HTRA2	OMIM:617248
HP:0001290	Generalized hypotonia	7227	TRPS1	OMIM:190350
HP:0001290	Generalized hypotonia	5081	PAX7	OMIM:618578
HP:0001290	Generalized hypotonia	389827	MYMK	OMIM:254940
HP:0001290	Generalized hypotonia	846	CASR	OMIM:239200
HP:0001290	Generalized hypotonia	7080	NKX2-1	OMIM:610978
HP:0001290	Generalized hypotonia	2879	GPX4	OMIM:250220
HP:0001290	Generalized hypotonia	2879	GPX4	ORPHA:93317
HP:0001290	Generalized hypotonia	9949	AMMECR1	OMIM:300990
HP:0001290	Generalized hypotonia	291	SLC25A4	ORPHA:254892
HP:0001290	Generalized hypotonia	291	SLC25A4	OMIM:617184
HP:0001290	Generalized hypotonia	5428	POLG	ORPHA:254892
HP:0001290	Generalized hypotonia	5428	POLG	ORPHA:94125
HP:0001290	Generalized hypotonia	5428	POLG	OMIM:203700
HP:0001290	Generalized hypotonia	5428	POLG	OMIM:613662
HP:0001290	Generalized hypotonia	56652	TWNK	ORPHA:254892
HP:0001290	Generalized hypotonia	11232	POLG2	ORPHA:254892
HP:0001290	Generalized hypotonia	11232	POLG2	OMIM:610131
HP:0001290	Generalized hypotonia	50484	RRM2B	ORPHA:254892
HP:0001290	Generalized hypotonia	50484	RRM2B	OMIM:612075
HP:0001290	Generalized hypotonia	9361	LONP1	OMIM:600373
HP:0001290	Generalized hypotonia	57190	SELENON	ORPHA:324604
HP:0001290	Generalized hypotonia	57190	SELENON	ORPHA:97244
HP:0001290	Generalized hypotonia	57190	SELENON	OMIM:602771
HP:0001290	Generalized hypotonia	4625	MYH7	ORPHA:324604
HP:0001290	Generalized hypotonia	7273	TTN	ORPHA:324604
HP:0001290	Generalized hypotonia	7273	TTN	ORPHA:169186
HP:0001290	Generalized hypotonia	9488	PIGB	OMIM:618580
HP:0001290	Generalized hypotonia	58	ACTA1	ORPHA:97244
HP:0001290	Generalized hypotonia	58	ACTA1	OMIM:620265
HP:0001290	Generalized hypotonia	58	ACTA1	ORPHA:171439
HP:0001290	Generalized hypotonia	6134	RPL10	OMIM:300998
HP:0001290	Generalized hypotonia	374291	NDUFS7	OMIM:618224
HP:0001290	Generalized hypotonia	2775	GNAO1	OMIM:617493
HP:0001290	Generalized hypotonia	1173	AP2M1	OMIM:618587
HP:0001290	Generalized hypotonia	8506	CNTNAP1	OMIM:616286
HP:0001290	Generalized hypotonia	54517	PUS7	OMIM:618342
HP:0001290	Generalized hypotonia	57102	FERRY3	OMIM:618221
HP:0001290	Generalized hypotonia	56203	LMOD3	OMIM:616165
HP:0001290	Generalized hypotonia	10564	ARFGEF2	OMIM:608097
HP:0001290	Generalized hypotonia	4719	NDUFS1	OMIM:618226
HP:0001290	Generalized hypotonia	1798	DPAGT1	OMIM:608093
HP:0001290	Generalized hypotonia	1798	DPAGT1	ORPHA:353327
HP:0001290	Generalized hypotonia	4720	NDUFS2	OMIM:618228
HP:0001290	Generalized hypotonia	100151683	RNU4ATAC	ORPHA:353298
HP:0001290	Generalized hypotonia	100151683	RNU4ATAC	OMIM:616651
HP:0001290	Generalized hypotonia	4729	NDUFV2	OMIM:618229
HP:0001290	Generalized hypotonia	56623	INPP5E	OMIM:213300
HP:0001290	Generalized hypotonia	90459	ERI1	OMIM:620663
HP:0001290	Generalized hypotonia	9256	TSPOAP1	ORPHA:101150
HP:0001290	Generalized hypotonia	7054	TH	ORPHA:101150
HP:0001290	Generalized hypotonia	50814	NSDHL	ORPHA:251383
HP:0001290	Generalized hypotonia	50814	NSDHL	OMIM:300831
HP:0001290	Generalized hypotonia	10102	TSFM	OMIM:610505
HP:0001290	Generalized hypotonia	3708	ITPR1	ORPHA:208513
HP:0001290	Generalized hypotonia	3708	ITPR1	OMIM:206700
HP:0001290	Generalized hypotonia	3708	ITPR1	OMIM:117360
HP:0001290	Generalized hypotonia	100033413	SNORD116-1	OMIM:176270
HP:0001290	Generalized hypotonia	8924	HERC2	OMIM:176270
HP:0001290	Generalized hypotonia	8924	HERC2	OMIM:615516
HP:0001290	Generalized hypotonia	23742	NPAP1	OMIM:176270
HP:0001290	Generalized hypotonia	338433	SNORD115-1	OMIM:176270
HP:0001290	Generalized hypotonia	54551	MAGEL2	OMIM:176270
HP:0001290	Generalized hypotonia	7681	MKRN3	OMIM:176270
HP:0001290	Generalized hypotonia	145624	PWAR1	OMIM:176270
HP:0001290	Generalized hypotonia	3653	IPW	OMIM:176270
HP:0001290	Generalized hypotonia	791114	PWRN1	OMIM:176270
HP:0001290	Generalized hypotonia	56945	MRPS22	OMIM:611719
HP:0001290	Generalized hypotonia	1120	CHKB	OMIM:602541
HP:0001290	Generalized hypotonia	55869	HDAC8	OMIM:300882
HP:0001290	Generalized hypotonia	56521	DNAJC12	OMIM:617384
HP:0001290	Generalized hypotonia	126328	NDUFA11	OMIM:618236
HP:0001290	Generalized hypotonia	10978	CLP1	ORPHA:411493
HP:0001290	Generalized hypotonia	57520	HECW2	OMIM:617268
HP:0001290	Generalized hypotonia	4722	NDUFS3	OMIM:618230
HP:0001290	Generalized hypotonia	63895	PIEZO2	OMIM:617146
HP:0001290	Generalized hypotonia	63895	PIEZO2	OMIM:248700
HP:0001290	Generalized hypotonia	29078	NDUFAF4	OMIM:618237
HP:0001290	Generalized hypotonia	1654	DDX3X	ORPHA:457260
HP:0001290	Generalized hypotonia	79133	NDUFAF5	OMIM:618238
HP:0001290	Generalized hypotonia	1760	DMPK	OMIM:160900
HP:0001290	Generalized hypotonia	7846	TUBA1A	OMIM:611603
HP:0001290	Generalized hypotonia	10166	SLC25A15	ORPHA:415
HP:0001290	Generalized hypotonia	3417	IDH1	ORPHA:99646
HP:0001290	Generalized hypotonia	3192	HNRNPU	OMIM:617391
HP:0001290	Generalized hypotonia	55967	NDUFA12	OMIM:618244
HP:0001290	Generalized hypotonia	7084	TK2	ORPHA:254875
HP:0001290	Generalized hypotonia	7084	TK2	OMIM:609560
HP:0001290	Generalized hypotonia	28982	FLVCR1	ORPHA:88628
HP:0001290	Generalized hypotonia	56915	EXOSC5	OMIM:619576
HP:0001290	Generalized hypotonia	51132	RLIM	OMIM:300978
HP:0001290	Generalized hypotonia	34	ACADM	OMIM:201450
HP:0001290	Generalized hypotonia	4125	MAN2B1	OMIM:248500
HP:0001290	Generalized hypotonia	23345	SYNE1	OMIM:618484
HP:0001290	Generalized hypotonia	11274	USP18	OMIM:617397
HP:0001290	Generalized hypotonia	7169	TPM2	OMIM:609285
HP:0001290	Generalized hypotonia	7169	TPM2	OMIM:108120
HP:0001290	Generalized hypotonia	7169	TPM2	ORPHA:171881
HP:0001290	Generalized hypotonia	7169	TPM2	ORPHA:171439
HP:0001290	Generalized hypotonia	201163	FLCN	OMIM:610883
HP:0001290	Generalized hypotonia	2019	EN1	OMIM:619218
HP:0001290	Generalized hypotonia	23203	PMPCA	OMIM:213200
HP:0001290	Generalized hypotonia	4864	NPC1	OMIM:257220
HP:0001290	Generalized hypotonia	55750	AGK	OMIM:212350
HP:0001290	Generalized hypotonia	6821	SUOX	OMIM:272300
HP:0001290	Generalized hypotonia	22827	PUF60	ORPHA:508488
HP:0001290	Generalized hypotonia	2898	GRIK2	OMIM:619580
HP:0001290	Generalized hypotonia	80324	PUS1	OMIM:600462
HP:0001290	Generalized hypotonia	1781	DYNC1I2	OMIM:618492
HP:0001290	Generalized hypotonia	112812	FDX2	OMIM:251900
HP:0001290	Generalized hypotonia	56776	FMN2	OMIM:616193
HP:0001290	Generalized hypotonia	23111	SPART	ORPHA:101000
HP:0001290	Generalized hypotonia	7809	BSND	OMIM:602522
HP:0001290	Generalized hypotonia	1277	COL1A1	OMIM:130060
HP:0001290	Generalized hypotonia	1277	COL1A1	OMIM:619115
HP:0001290	Generalized hypotonia	26276	VPS33B	OMIM:208085
HP:0001290	Generalized hypotonia	4556	MT-TE	ORPHA:254864
HP:0001290	Generalized hypotonia	6390	SDHB	OMIM:619224
HP:0001290	Generalized hypotonia	6390	SDHB	ORPHA:3208
HP:0001290	Generalized hypotonia	63931	MRPS14	OMIM:618378
HP:0001290	Generalized hypotonia	3977	LIFR	OMIM:601559
HP:0001290	Generalized hypotonia	54681	P4HTM	OMIM:618493
HP:0001290	Generalized hypotonia	4714	NDUFB8	OMIM:618252
HP:0001290	Generalized hypotonia	5283	PIGH	OMIM:618010
HP:0001290	Generalized hypotonia	7403	KDM6A	OMIM:300867
HP:0001290	Generalized hypotonia	4126	MANBA	OMIM:248510
HP:0001290	Generalized hypotonia	4700	NDUFA6	OMIM:618253
HP:0001290	Generalized hypotonia	51305	KCNK9	ORPHA:166108
HP:0001290	Generalized hypotonia	1280	COL2A1	OMIM:183900
HP:0001290	Generalized hypotonia	2218	FKTN	ORPHA:370980
HP:0001290	Generalized hypotonia	2218	FKTN	OMIM:253800
HP:0001290	Generalized hypotonia	729920	CRPPA	ORPHA:370980
HP:0001290	Generalized hypotonia	729920	CRPPA	OMIM:614643
HP:0001290	Generalized hypotonia	10585	POMT1	ORPHA:370980
HP:0001290	Generalized hypotonia	4990	SIX6	OMIM:206900
HP:0001290	Generalized hypotonia	6657	SOX2	OMIM:206900
HP:0001290	Generalized hypotonia	9791	PTDSS1	OMIM:151050
HP:0001290	Generalized hypotonia	8943	AP3D1	OMIM:617050
HP:0001290	Generalized hypotonia	23322	RPGRIP1L	OMIM:619113
HP:0001290	Generalized hypotonia	23322	RPGRIP1L	OMIM:611560
HP:0001290	Generalized hypotonia	139411	PTCHD1	OMIM:300830
HP:0001290	Generalized hypotonia	65250	CPLANE1	OMIM:277170
HP:0001290	Generalized hypotonia	65250	CPLANE1	ORPHA:2754
HP:0001290	Generalized hypotonia	51095	TRNT1	OMIM:616084
HP:0001290	Generalized hypotonia	64849	SLC13A3	OMIM:618384
HP:0001290	Generalized hypotonia	348180	CTU2	OMIM:618142
HP:0001290	Generalized hypotonia	94005	PIGS	OMIM:618143
HP:0001290	Generalized hypotonia	57514	ARHGAP31	OMIM:100300
HP:0001290	Generalized hypotonia	4361	MRE11	ORPHA:251347
HP:0001290	Generalized hypotonia	788	SLC25A20	OMIM:212138
HP:0001290	Generalized hypotonia	4983	OPHN1	ORPHA:137831
HP:0001290	Generalized hypotonia	4983	OPHN1	OMIM:300486
HP:0001290	Generalized hypotonia	9968	MED12	OMIM:309520
HP:0001290	Generalized hypotonia	113189	CHST14	OMIM:601776
HP:0001290	Generalized hypotonia	5290	PIK3CA	OMIM:602501
HP:0001290	Generalized hypotonia	3636	INPPL1	OMIM:258480
HP:0001290	Generalized hypotonia	2077	ERF	OMIM:617180
HP:0001290	Generalized hypotonia	90522	YIF1B	OMIM:619125
HP:0001290	Generalized hypotonia	4841	NONO	OMIM:300967
HP:0001290	Generalized hypotonia	4841	NONO	ORPHA:466791
HP:0001290	Generalized hypotonia	5058	PAK1	OMIM:618158
HP:0001290	Generalized hypotonia	8239	USP9X	OMIM:300968
HP:0001290	Generalized hypotonia	10651	MTX2	OMIM:619127
HP:0001290	Generalized hypotonia	1278	COL1A2	OMIM:619120
HP:0001290	Generalized hypotonia	1278	COL1A2	OMIM:617821
HP:0001290	Generalized hypotonia	9326	ZNHIT3	OMIM:260565
HP:0001290	Generalized hypotonia	22983	MAST1	OMIM:618273
HP:0001290	Generalized hypotonia	28514	DLL1	ORPHA:280195
HP:0001290	Generalized hypotonia	2253	FGF8	ORPHA:280195
HP:0001290	Generalized hypotonia	6496	SIX3	ORPHA:280195
HP:0001290	Generalized hypotonia	6496	SIX3	OMIM:157170
HP:0001290	Generalized hypotonia	7050	TGIF1	ORPHA:280195
HP:0001290	Generalized hypotonia	4838	NODAL	ORPHA:280195
HP:0001290	Generalized hypotonia	6469	SHH	ORPHA:280195
HP:0001290	Generalized hypotonia	7546	ZIC2	ORPHA:280195
HP:0001290	Generalized hypotonia	6491	STIL	ORPHA:280195
HP:0001290	Generalized hypotonia	2619	GAS1	ORPHA:280195
HP:0001290	Generalized hypotonia	84976	DISP1	ORPHA:280195
HP:0001290	Generalized hypotonia	2736	GLI2	ORPHA:280195
HP:0001290	Generalized hypotonia	8928	FOXH1	ORPHA:280195
HP:0001290	Generalized hypotonia	6997	CRIPTO	ORPHA:280195
HP:0001290	Generalized hypotonia	5727	PTCH1	ORPHA:280195
HP:0001290	Generalized hypotonia	50937	CDON	ORPHA:280195
HP:0001290	Generalized hypotonia	79143	MBOAT7	OMIM:617188
HP:0001290	Generalized hypotonia	23096	IQSEC2	OMIM:309530
HP:0001290	Generalized hypotonia	57038	RARS2	OMIM:611523
HP:0001290	Generalized hypotonia	5625	PRODH	OMIM:239500
HP:0001290	Generalized hypotonia	6329	SCN4A	OMIM:620351
HP:0001290	Generalized hypotonia	673	BRAF	OMIM:613706
HP:0001290	Generalized hypotonia	673	BRAF	OMIM:115150
HP:0001290	Generalized hypotonia	201595	STT3B	ORPHA:370924
HP:0001290	Generalized hypotonia	403	ARL3	OMIM:618161
HP:0001290	Generalized hypotonia	1650	DDOST	ORPHA:300536
HP:0001290	Generalized hypotonia	6748	SSR4	ORPHA:370927
HP:0001290	Generalized hypotonia	6748	SSR4	OMIM:300934
HP:0001290	Generalized hypotonia	84295	PHF6	OMIM:301900
HP:0001290	Generalized hypotonia	9895	TECPR2	ORPHA:320385
HP:0001290	Generalized hypotonia	2193	FARSA	OMIM:619013
HP:0001290	Generalized hypotonia	89970	RSPRY1	ORPHA:457395
HP:0001290	Generalized hypotonia	89970	RSPRY1	OMIM:616723
HP:0001290	Generalized hypotonia	4668	NAGA	OMIM:609241
HP:0001290	Generalized hypotonia	2733	GLE1	OMIM:611890
HP:0001290	Generalized hypotonia	54187	NANS	OMIM:610442
HP:0001290	Generalized hypotonia	55005	RMND1	OMIM:614922
HP:0001290	Generalized hypotonia	284058	KANSL1	OMIM:610443
HP:0001290	Generalized hypotonia	10020	GNE	ORPHA:3166
HP:0001290	Generalized hypotonia	1719	DHFR	OMIM:613839
HP:0001290	Generalized hypotonia	84153	RNASEH2C	OMIM:610329
HP:0001290	Generalized hypotonia	8139	GAN	ORPHA:643
HP:0001290	Generalized hypotonia	1376	CPT2	ORPHA:228308
HP:0001290	Generalized hypotonia	11011	TLK2	OMIM:618050
HP:0001290	Generalized hypotonia	3030	HADHA	ORPHA:5
HP:0001290	Generalized hypotonia	2316	FLNA	ORPHA:555877
HP:0001290	Generalized hypotonia	11342	RNF13	ORPHA:544503
HP:0001290	Generalized hypotonia	25886	POC1A	OMIM:614813
HP:0001290	Generalized hypotonia	871	SERPINH1	OMIM:613848
HP:0001290	Generalized hypotonia	9325	TRIP4	ORPHA:486815
HP:0001290	Generalized hypotonia	9325	TRIP4	OMIM:616866
HP:0001290	Generalized hypotonia	2760	GM2A	OMIM:272750
HP:0001290	Generalized hypotonia	168667	BMPER	OMIM:608022
HP:0001290	Generalized hypotonia	6584	SLC22A5	OMIM:212140
HP:0001290	Generalized hypotonia	9131	AIFM1	ORPHA:238329
HP:0001290	Generalized hypotonia	10682	EBP	ORPHA:401973
HP:0001290	Generalized hypotonia	6095	RORA	OMIM:618060
HP:0001290	Generalized hypotonia	11198	SUPT16H	ORPHA:261229
HP:0001290	Generalized hypotonia	57680	CHD8	ORPHA:261229
HP:0001290	Generalized hypotonia	8450	CUL4B	OMIM:300354
HP:0001290	Generalized hypotonia	158	ADSL	OMIM:103050
HP:0001290	Generalized hypotonia	158	ADSL	ORPHA:46
HP:0001290	Generalized hypotonia	324	APC	ORPHA:261584
HP:0001290	Generalized hypotonia	1183	CLCN4	OMIM:300114
HP:0001290	Generalized hypotonia	10046	MAMLD1	ORPHA:456328
HP:0001290	Generalized hypotonia	4534	MTM1	ORPHA:456328
HP:0001290	Generalized hypotonia	4574	MT-TS1	OMIM:220110
HP:0001290	Generalized hypotonia	4570	MT-TN	OMIM:220110
HP:0001290	Generalized hypotonia	6834	SURF1	OMIM:220110
HP:0001290	Generalized hypotonia	5393	EXOSC9	OMIM:618065
HP:0001290	Generalized hypotonia	80308	FLAD1	OMIM:255100
HP:0001290	Generalized hypotonia	2904	GRIN2B	OMIM:613970
HP:0001290	Generalized hypotonia	55624	POMGNT1	OMIM:253280
HP:0001290	Generalized hypotonia	85300	ATCAY	ORPHA:94122
HP:0001290	Generalized hypotonia	4758	NEU1	OMIM:256550
HP:0001290	Generalized hypotonia	9839	ZEB2	OMIM:235730
HP:0001290	Generalized hypotonia	79581	SLC52A2	OMIM:614707
HP:0001290	Generalized hypotonia	4867	NPHP1	OMIM:609583
HP:0001290	Generalized hypotonia	1291	COL6A1	ORPHA:75840
HP:0001290	Generalized hypotonia	1292	COL6A2	ORPHA:75840
HP:0001290	Generalized hypotonia	1293	COL6A3	ORPHA:75840
HP:0001290	Generalized hypotonia	3073	HEXA	OMIM:272800
HP:0001290	Generalized hypotonia	2617	GARS1	OMIM:619042
HP:0001290	Generalized hypotonia	51218	GLRX5	ORPHA:401866
HP:0001290	Generalized hypotonia	10479	SLC9A6	OMIM:300243
HP:0001290	Generalized hypotonia	8443	GNPAT	OMIM:222765
HP:0001290	Generalized hypotonia	6341	SCO1	OMIM:619048
HP:0001290	Generalized hypotonia	374654	KIF7	OMIM:200990
HP:0001290	Generalized hypotonia	374654	KIF7	ORPHA:2754
HP:0001290	Generalized hypotonia	89910	UBE3B	OMIM:244450
HP:0001290	Generalized hypotonia	6311	ATXN2	OMIM:183090
HP:0001290	Generalized hypotonia	6311	ATXN2	ORPHA:98756
HP:0001290	Generalized hypotonia	1352	COX10	OMIM:619046
HP:0001290	Generalized hypotonia	55788	LMBRD1	OMIM:277380
HP:0001290	Generalized hypotonia	3141	HLCS	OMIM:253270
HP:0001290	Generalized hypotonia	1763	DNA2	ORPHA:352470
HP:0001290	Generalized hypotonia	57582	KCNT1	OMIM:614959
HP:0001290	Generalized hypotonia	10225	CD96	OMIM:211750
HP:0001290	Generalized hypotonia	9382	COG1	ORPHA:263508
HP:0001290	Generalized hypotonia	3703	STT3A	ORPHA:370921
HP:0001290	Generalized hypotonia	29925	GMPPB	ORPHA:353327
HP:0001290	Generalized hypotonia	199857	ALG14	ORPHA:353327
HP:0001290	Generalized hypotonia	87178	PNPT1	ORPHA:319514
HP:0001290	Generalized hypotonia	1340	COX6B1	OMIM:619051
HP:0001290	Generalized hypotonia	1185	CLCN6	OMIM:619173
HP:0001290	Generalized hypotonia	1738	DLD	ORPHA:2394
HP:0001290	Generalized hypotonia	170302	ARX	OMIM:300215
HP:0001290	Generalized hypotonia	100131801	PET100	OMIM:619055
HP:0001290	Generalized hypotonia	84665	MYPN	ORPHA:171881
HP:0001290	Generalized hypotonia	84665	MYPN	ORPHA:171439
HP:0001290	Generalized hypotonia	7170	TPM3	ORPHA:171881
HP:0001290	Generalized hypotonia	7170	TPM3	ORPHA:171439
HP:0001290	Generalized hypotonia	3766	KCNJ10	OMIM:612780
HP:0001290	Generalized hypotonia	9739	SETD1A	OMIM:619056
HP:0001290	Generalized hypotonia	5119	CHMP1A	OMIM:614961
HP:0001290	Generalized hypotonia	23522	KAT6B	OMIM:606170
HP:0001290	Generalized hypotonia	966	CD59	OMIM:612300
HP:0001290	Generalized hypotonia	8792	TNFRSF11A	OMIM:612301
HP:0001290	Generalized hypotonia	93627	TBCK	OMIM:616900
HP:0001290	Generalized hypotonia	5015	OTX2	OMIM:610125
HP:0001290	Generalized hypotonia	5238	PGM3	OMIM:615816
HP:0001290	Generalized hypotonia	7841	MOGS	OMIM:606056
HP:0001290	Generalized hypotonia	64087	MCCC2	OMIM:210210
HP:0001290	Generalized hypotonia	10716	TBR1	OMIM:606053
HP:0001290	Generalized hypotonia	1339	COX6A2	OMIM:619062
HP:0001290	Generalized hypotonia	1717	DHCR7	OMIM:270400
HP:0001290	Generalized hypotonia	23116	TOGARAM1	OMIM:619185
HP:0001290	Generalized hypotonia	1327	COX4I1	OMIM:619060
HP:0001290	Generalized hypotonia	26053	AUTS2	ORPHA:352490
HP:0001290	Generalized hypotonia	26053	AUTS2	OMIM:615834
HP:0001290	Generalized hypotonia	649	BMP1	OMIM:614856
HP:0001290	Generalized hypotonia	4598	MVK	OMIM:610377
HP:0001290	Generalized hypotonia	56922	MCCC1	OMIM:210200
HP:0001290	Generalized hypotonia	113235	SLC46A1	OMIM:229050
HP:0001290	Generalized hypotonia	63894	VIPAS39	OMIM:613404
HP:0001290	Generalized hypotonia	2752	GLUL	OMIM:610015
HP:0001290	Generalized hypotonia	1906	EDN1	ORPHA:137888
HP:0001290	Generalized hypotonia	5332	PLCB4	ORPHA:137888
HP:0001290	Generalized hypotonia	2773	GNAI3	ORPHA:137888
HP:0001290	Generalized hypotonia	54872	PIGG	OMIM:616917
HP:0001290	Generalized hypotonia	5728	PTEN	ORPHA:79076
HP:0001290	Generalized hypotonia	657	BMPR1A	ORPHA:79076
HP:0001290	Generalized hypotonia	26005	C2CD3	OMIM:615948
HP:0001290	Generalized hypotonia	5193	PEX12	OMIM:614859
HP:0001290	Generalized hypotonia	5193	PEX12	OMIM:266510
HP:0001290	Generalized hypotonia	7468	NSD2	OMIM:194190
HP:0001290	Generalized hypotonia	10815	CPLX1	OMIM:194190
HP:0001290	Generalized hypotonia	1487	CTBP1	OMIM:194190
HP:0001290	Generalized hypotonia	53834	FGFRL1	OMIM:194190
HP:0001290	Generalized hypotonia	3954	LETM1	OMIM:194190
HP:0001290	Generalized hypotonia	84947	SERAC1	OMIM:614739
HP:0001290	Generalized hypotonia	28976	ACAD9	ORPHA:99901
HP:0001290	Generalized hypotonia	28976	ACAD9	OMIM:611126
HP:0001290	Generalized hypotonia	7915	ALDH5A1	OMIM:271980
HP:0001290	Generalized hypotonia	2615	LRRC32	OMIM:619074
HP:0001290	Generalized hypotonia	4953	ODC1	OMIM:619075
HP:0001290	Generalized hypotonia	6792	CDKL5	OMIM:300672
HP:0001290	Generalized hypotonia	593	BCKDHA	OMIM:248600
HP:0001290	Generalized hypotonia	3028	HSD17B10	OMIM:300438
HP:0001290	Generalized hypotonia	51660	MPC1	OMIM:614741
HP:0001290	Generalized hypotonia	5190	PEX6	OMIM:614862
HP:0001290	Generalized hypotonia	5190	PEX6	OMIM:614863
HP:0001290	Generalized hypotonia	6660	SOX5	OMIM:616803
HP:0001290	Generalized hypotonia	5828	PEX2	OMIM:614867
HP:0001290	Generalized hypotonia	285175	UNC80	OMIM:616801
HP:0001290	Generalized hypotonia	10290	SPEG	OMIM:615959
HP:0001290	Generalized hypotonia	10290	SPEG	ORPHA:169186
HP:0001290	Generalized hypotonia	90624	LYRM7	OMIM:615838
HP:0001290	Generalized hypotonia	10056	FARSB	OMIM:613658
HP:0001290	Generalized hypotonia	3748	KCNC3	ORPHA:98768
HP:0001290	Generalized hypotonia	11128	POLR3A	OMIM:264090
HP:0001290	Generalized hypotonia	5582	PRKCG	ORPHA:98763
HP:0001290	Generalized hypotonia	6558	SLC12A2	OMIM:619083
HP:0001290	Generalized hypotonia	6558	SLC12A2	OMIM:619080
HP:0001290	Generalized hypotonia	25814	ATXN10	ORPHA:98761
HP:0001290	Generalized hypotonia	8905	AP1S2	ORPHA:85329
HP:0001290	Generalized hypotonia	64419	MTMR14	OMIM:160150
HP:0001290	Generalized hypotonia	64419	MTMR14	ORPHA:169189
HP:0001290	Generalized hypotonia	5594	MAPK1	OMIM:619087
HP:0001290	Generalized hypotonia	284217	LAMA1	OMIM:615960
HP:0001290	Generalized hypotonia	64135	IFIH1	OMIM:615846
HP:0001290	Generalized hypotonia	64135	IFIH1	OMIM:182250
HP:0001290	Generalized hypotonia	5340	PLG	OMIM:217090
HP:0001290	Generalized hypotonia	10472	ZBTB18	OMIM:612337
HP:0001290	Generalized hypotonia	25828	TXN2	OMIM:616811
HP:0001290	Generalized hypotonia	9409	PEX16	OMIM:614876
HP:0001290	Generalized hypotonia	2006	ELN	OMIM:194050
HP:0001290	Generalized hypotonia	51085	MLXIPL	OMIM:194050
HP:0001290	Generalized hypotonia	55343	SLC35C1	ORPHA:99843
HP:0001290	Generalized hypotonia	6310	ATXN1	ORPHA:98755
HP:0001290	Generalized hypotonia	6310	ATXN1	OMIM:164400
HP:0001290	Generalized hypotonia	5092	PCBD1	OMIM:264070
HP:0001290	Generalized hypotonia	4677	NARS1	OMIM:619091
HP:0001290	Generalized hypotonia	4677	NARS1	OMIM:619092
HP:0001290	Generalized hypotonia	8813	DPM1	OMIM:608799
HP:0001290	Generalized hypotonia	81031	SLC2A10	OMIM:208050
HP:0001290	Generalized hypotonia	9147	NEMF	OMIM:619099
HP:0001290	Generalized hypotonia	10743	RAI1	OMIM:182290
HP:0001290	Generalized hypotonia	27086	FOXP1	OMIM:613670
HP:0001290	Generalized hypotonia	26047	CNTNAP2	OMIM:610042
HP:0001290	Generalized hypotonia	10735	STAG2	ORPHA:521258
HP:0001290	Generalized hypotonia	10735	STAG2	OMIM:301022
HP:0001290	Generalized hypotonia	8504	PEX3	OMIM:614882
HP:0001290	Generalized hypotonia	6389	SDHA	ORPHA:3208
HP:0001290	Generalized hypotonia	6392	SDHD	ORPHA:3208
HP:0001290	Generalized hypotonia	644096	SDHAF1	ORPHA:3208
HP:0001290	Generalized hypotonia	1374	CPT1A	OMIM:255120
HP:0001290	Generalized hypotonia	6611	SMS	OMIM:309583
HP:0001290	Generalized hypotonia	7317	UBA1	ORPHA:1145
HP:0001290	Generalized hypotonia	9928	KIF14	OMIM:617914
HP:0001290	Generalized hypotonia	390594	KBTBD13	ORPHA:171439
HP:0001290	Generalized hypotonia	4703	NEB	ORPHA:171439
HP:0001290	Generalized hypotonia	10324	KLHL41	ORPHA:171439
HP:0001290	Generalized hypotonia	2146	EZH2	OMIM:277590
HP:0001290	Generalized hypotonia	5195	PEX14	OMIM:614887
HP:0001290	Generalized hypotonia	51322	WAC	OMIM:616708
HP:0001290	Generalized hypotonia	84317	CCDC115	OMIM:616828
HP:0001290	Generalized hypotonia	701	BUB1B	OMIM:257300
HP:0001290	Generalized hypotonia	28962	OSTM1	OMIM:259720
HP:0001290	Generalized hypotonia	65125	WNK1	OMIM:201300
HP:0001290	Generalized hypotonia	54463	RETREG1	OMIM:201300
HP:0001290	Generalized hypotonia	6335	SCN9A	OMIM:201300
HP:0001290	Generalized hypotonia	547	KIF1A	OMIM:201300
HP:0001290	Generalized hypotonia	547	KIF1A	OMIM:614255
HP:0001290	Generalized hypotonia	667	DST	OMIM:614653
HP:0001290	Generalized hypotonia	2033	EP300	OMIM:613684
HP:0001290	Generalized hypotonia	10243	GPHN	OMIM:615501
HP:0001290	Generalized hypotonia	29072	SETD2	OMIM:616831
HP:0001290	Generalized hypotonia	57017	COQ9	OMIM:614654
HP:0001290	Generalized hypotonia	7407	VARS1	OMIM:617802
HP:0001290	Generalized hypotonia	196528	ARID2	OMIM:617808
HP:0001290	Generalized hypotonia	1861	TOR1A	OMIM:128100
HP:0001290	Generalized hypotonia	1861	TOR1A	OMIM:618947
HP:0001290	Generalized hypotonia	56052	ALG1	OMIM:608540
HP:0001290	Generalized hypotonia	54704	PDP1	OMIM:608782
HP:0001290	Generalized hypotonia	10075	HUWE1	OMIM:309590
HP:0001290	Generalized hypotonia	8518	ELP1	OMIM:223900
HP:0001290	Generalized hypotonia	274	BIN1	ORPHA:169186
HP:0001290	Generalized hypotonia	274	BIN1	ORPHA:169189
HP:0001290	Generalized hypotonia	5979	RET	OMIM:162300
HP:0001290	Generalized hypotonia	55906	ZC4H2	OMIM:301041
HP:0001290	Generalized hypotonia	55906	ZC4H2	OMIM:314580
HP:0001290	Generalized hypotonia	91949	COG7	OMIM:608779
HP:0001290	Generalized hypotonia	8243	SMC1A	OMIM:301044
HP:0001290	Generalized hypotonia	3033	HADH	OMIM:231530
HP:0001290	Generalized hypotonia	7167	TPI1	OMIM:615512
HP:0001290	Generalized hypotonia	9698	PUM1	OMIM:617931
HP:0001290	Generalized hypotonia	1305	COL13A1	OMIM:616720
HP:0001290	Generalized hypotonia	29926	GMPPA	OMIM:615510
HP:0001290	Generalized hypotonia	80184	CEP290	OMIM:610188
HP:0001290	Generalized hypotonia	65062	TMEM237	OMIM:614424
HP:0001290	Generalized hypotonia	53616	ADAM22	OMIM:617933
HP:0001290	Generalized hypotonia	85358	SHANK3	OMIM:606232
HP:0001290	Generalized hypotonia	23028	KDM1A	OMIM:616728
HP:0001290	Generalized hypotonia	6571	SLC18A2	ORPHA:352649
HP:0001290	Generalized hypotonia	27249	MMADHC	OMIM:277410
HP:0001290	Generalized hypotonia	26115	TANC2	OMIM:618906
HP:0001290	Generalized hypotonia	4618	MYF6	ORPHA:169189
HP:0001290	Generalized hypotonia	91147	TMEM67	OMIM:216360
HP:0001290	Generalized hypotonia	57465	TBC1D24	OMIM:220500
HP:0001290	Generalized hypotonia	5160	PDHA1	OMIM:312170
HP:0001290	Generalized hypotonia	84162	BLTP1	OMIM:617822
HP:0001290	Generalized hypotonia	10229	COQ7	OMIM:616733
HP:0001290	Generalized hypotonia	23291	FBXW11	OMIM:618914
HP:0001290	Generalized hypotonia	4893	NRAS	OMIM:613224
HP:0001290	Generalized hypotonia	22880	MORC2	ORPHA:466768
HP:0001290	Generalized hypotonia	7280	TUBB2A	OMIM:615763
HP:0001290	Generalized hypotonia	998	CDC42	OMIM:616737
HP:0001290	Generalized hypotonia	10982	MAPRE2	OMIM:616734
HP:0001290	Generalized hypotonia	51010	EXOSC3	OMIM:614678
HP:0001290	Generalized hypotonia	64221	ROBO3	OMIM:607313
HP:0001290	Generalized hypotonia	3778	KCNMA1	ORPHA:79137
HP:0001290	Generalized hypotonia	3778	KCNMA1	OMIM:617643
HP:0001290	Generalized hypotonia	84679	SLC9A7	OMIM:301024
HP:0001290	Generalized hypotonia	2895	GRID2	ORPHA:363432
HP:0001290	Generalized hypotonia	4694	NDUFA1	OMIM:301020
HP:0001290	Generalized hypotonia	7874	USP7	OMIM:616863
HP:0001290	Generalized hypotonia	6709	SPTAN1	OMIM:613477
HP:0001290	Generalized hypotonia	4358	MPV17	OMIM:256810
HP:0001290	Generalized hypotonia	91137	SLC25A46	OMIM:616505
HP:0001290	Generalized hypotonia	9378	NRXN1	OMIM:614325
HP:0001290	Generalized hypotonia	51008	ASCC1	OMIM:616867
HP:0001290	Generalized hypotonia	6606	SMN1	OMIM:253300
HP:0001290	Generalized hypotonia	10943	MSL3	OMIM:301032
HP:0001290	Generalized hypotonia	1105	CHD1	ORPHA:529965
HP:0001290	Generalized hypotonia	5147	PDE6D	OMIM:615665
HP:0001290	Generalized hypotonia	5147	PDE6D	ORPHA:2754
HP:0001290	Generalized hypotonia	57511	COG6	OMIM:614576
HP:0001290	Generalized hypotonia	23065	EMC1	OMIM:616875
HP:0001290	Generalized hypotonia	7421	VDR	OMIM:277440
HP:0001290	Generalized hypotonia	128637	TBC1D20	OMIM:615663
HP:0001290	Generalized hypotonia	175	AGA	OMIM:208400
HP:0001290	Generalized hypotonia	2475	MTOR	OMIM:616638
HP:0001290	Generalized hypotonia	128989	TANGO2	OMIM:616878
HP:0001290	Generalized hypotonia	57531	HACE1	OMIM:616756
HP:0001290	Generalized hypotonia	4644	MYO5A	ORPHA:79476
HP:0001290	Generalized hypotonia	60	ACTB	OMIM:243310
HP:0001290	Generalized hypotonia	11019	LIAS	OMIM:614462
HP:0001290	Generalized hypotonia	1859	DYRK1A	OMIM:614104
HP:0001290	Generalized hypotonia	23443	SLC35A3	OMIM:615553
HP:0001290	Generalized hypotonia	95681	CEP41	OMIM:614464
HP:0001290	Generalized hypotonia	29957	SLC25A24	OMIM:612289
HP:0001290	Generalized hypotonia	64857	PLEKHG2	OMIM:616763
HP:0001290	Generalized hypotonia	51520	LARS1	OMIM:615438
HP:0001290	Generalized hypotonia	8936	WASF1	OMIM:618707
HP:0001290	Generalized hypotonia	10128	LRPPRC	ORPHA:70472
HP:0001290	Generalized hypotonia	23545	ATP6V0A2	OMIM:219200
HP:0001290	Generalized hypotonia	26503	SLC17A5	OMIM:604369
HP:0001290	Generalized hypotonia	26503	SLC17A5	OMIM:269920
HP:0001290	Generalized hypotonia	55617	TASP1	OMIM:618950
HP:0001290	Generalized hypotonia	200894	ARL13B	OMIM:612291
HP:0001290	Generalized hypotonia	5162	PDHB	OMIM:614111
HP:0001290	Generalized hypotonia	83737	ITCH	OMIM:613385
HP:0001290	Generalized hypotonia	92335	STRADA	OMIM:611087
HP:0001290	Generalized hypotonia	28957	MRPS28	OMIM:618958
HP:0001290	Generalized hypotonia	2670	GFAP	ORPHA:363717
HP:0001290	Generalized hypotonia	1605	DAG1	OMIM:616538
HP:0001290	Generalized hypotonia	5500	PPP1CB	OMIM:617506
HP:0001290	Generalized hypotonia	5376	PMP22	ORPHA:98916
HP:0001290	Generalized hypotonia	9215	LARGE1	OMIM:608840
HP:0001290	Generalized hypotonia	9215	LARGE1	OMIM:613154
HP:0001290	Generalized hypotonia	8292	COLQ	OMIM:603034
HP:0001290	Generalized hypotonia	617	BCS1L	OMIM:124000
HP:0001290	Generalized hypotonia	3756	KCNH1	ORPHA:420561
HP:0001290	Generalized hypotonia	139285	AMER1	OMIM:300373
HP:0001290	Generalized hypotonia	9897	WASHC5	OMIM:220210
HP:0001290	Generalized hypotonia	6497	SKI	OMIM:182212
HP:0001290	Generalized hypotonia	95	ACY1	OMIM:609924
HP:0001290	Generalized hypotonia	54802	TRIT1	OMIM:617873
HP:0001290	Generalized hypotonia	23247	KATNIP	OMIM:616784
HP:0001290	Generalized hypotonia	9731	CEP104	OMIM:616781
HP:0001290	Generalized hypotonia	51780	KDM3B	OMIM:618846
HP:0001290	Generalized hypotonia	5538	PPT1	OMIM:256730
HP:0001290	Generalized hypotonia	1663	DDX11	OMIM:613398
HP:0001290	Generalized hypotonia	29954	POMT2	OMIM:613156
HP:0001290	Generalized hypotonia	51317	PHF21A	OMIM:618725
HP:0001290	Generalized hypotonia	5455	POU3F3	OMIM:618604
HP:0001290	Generalized hypotonia	2186	BPTF	OMIM:617755
HP:0001290	Generalized hypotonia	738	VPS51	OMIM:618606
HP:0001290	Generalized hypotonia	84700	MYO18B	OMIM:616549
HP:0001290	Generalized hypotonia	23389	MED13L	OMIM:616789
HP:0001290	Generalized hypotonia	5430	POLR2A	OMIM:618603
HP:0001290	Generalized hypotonia	1585	CYP11B2	ORPHA:556030
HP:0001290	Generalized hypotonia	57731	SPTBN4	OMIM:617519
HP:0001290	Generalized hypotonia	4848	CNOT2	OMIM:618608
HP:0001290	Generalized hypotonia	2639	GCDH	OMIM:231670
HP:0001290	Generalized hypotonia	79583	TMEM231	ORPHA:2754
HP:0001290	Generalized hypotonia	10210	TOPORS	ORPHA:2754
HP:0001290	Generalized hypotonia	9851	KIAA0753	ORPHA:2754
HP:0001290	Generalized hypotonia	26123	TCTN3	ORPHA:2754
HP:0001290	Generalized hypotonia	51259	TMEM216	ORPHA:2754
HP:0001290	Generalized hypotonia	8481	OFD1	ORPHA:2754
HP:0001290	Generalized hypotonia	317662	FAM149B1	ORPHA:2754
HP:0001290	Generalized hypotonia	9469	CHST3	OMIM:245600
HP:0001290	Generalized hypotonia	26229	B3GAT3	OMIM:245600
HP:0001290	Generalized hypotonia	1468	SLC25A10	OMIM:618972
HP:0001290	Generalized hypotonia	1968	EIF2S3	OMIM:300148
HP:0001290	Generalized hypotonia	5087	PBX1	OMIM:617641
HP:0001290	Generalized hypotonia	115286	SLC25A26	OMIM:616794
HP:0001290	Generalized hypotonia	92935	MARS2	OMIM:616430
HP:0001290	Generalized hypotonia	6833	ABCC8	OMIM:618857
HP:0001290	Generalized hypotonia	8398	PLA2G6	OMIM:256600
HP:0001290	Generalized hypotonia	4858	NOVA2	OMIM:618859
HP:0001290	Generalized hypotonia	25871	NEPRO	OMIM:618853
HP:0001290	Generalized hypotonia	1460	CSNK2B	OMIM:618732
HP:0001290	Generalized hypotonia	4654	MYOD1	OMIM:618975
HP:0001290	Generalized hypotonia	8449	DHX16	OMIM:618733
HP:0001290	Generalized hypotonia	22868	FASTKD2	OMIM:618855
HP:0001290	Generalized hypotonia	58508	KMT2C	OMIM:617768
HP:0001290	Generalized hypotonia	58499	ZNF462	OMIM:618619
HP:0001290	Generalized hypotonia	5052	PRDX1	OMIM:277400
HP:0001290	Generalized hypotonia	25974	MMACHC	OMIM:277400
HP:0001290	Generalized hypotonia	2582	GALE	OMIM:230350
HP:0001290	Generalized hypotonia	1103	CHAT	OMIM:254210
HP:0001290	Generalized hypotonia	6507	SLC1A3	OMIM:612656
HP:0001291	Abnormal cranial nerve morphology	5396	PRRX1	ORPHA:990
HP:0001291	Abnormal cranial nerve morphology	5015	OTX2	ORPHA:990
HP:0001291	Abnormal cranial nerve morphology	2697	GJA1	ORPHA:1522
HP:0001291	Abnormal cranial nerve morphology	56172	ANKH	ORPHA:1522
HP:0001291	Abnormal cranial nerve morphology	10312	TCIRG1	ORPHA:1782
HP:0001291	Abnormal cranial nerve morphology	55315	SLC29A3	ORPHA:1782
HP:0001291	Abnormal cranial nerve morphology	8792	TNFRSF11A	ORPHA:1782
HP:0001291	Abnormal cranial nerve morphology	64127	NOD2	ORPHA:90340
HP:0001291	Abnormal cranial nerve morphology	64127	NOD2	OMIM:186580
HP:0001291	Abnormal cranial nerve morphology	2248	FGF3	ORPHA:90024
HP:0001291	Abnormal cranial nerve morphology	2776	GNAQ	ORPHA:624
HP:0001291	Abnormal cranial nerve morphology	79628	SH3TC2	OMIM:601596
HP:0001291	Abnormal cranial nerve morphology	9573	GDF3	ORPHA:2345
HP:0001291	Abnormal cranial nerve morphology	392255	GDF6	ORPHA:2345
HP:0001291	Abnormal cranial nerve morphology	4222	MEOX1	ORPHA:2345
HP:0001291	Abnormal cranial nerve morphology	1959	EGR2	OMIM:605253
HP:0001291	Abnormal cranial nerve morphology	55636	CHD7	ORPHA:138
HP:0001291	Abnormal cranial nerve morphology	9723	SEMA3E	ORPHA:138
HP:0001291	Abnormal cranial nerve morphology	4221	MEN1	ORPHA:652
HP:0001291	Abnormal cranial nerve morphology	1027	CDKN1B	ORPHA:652
HP:0001291	Abnormal cranial nerve morphology	1026	CDKN1A	ORPHA:652
HP:0001291	Abnormal cranial nerve morphology	1030	CDKN2B	ORPHA:652
HP:0001291	Abnormal cranial nerve morphology	1031	CDKN2C	ORPHA:652
HP:0001291	Abnormal cranial nerve morphology	1186	CLCN7	ORPHA:53
HP:0001291	Abnormal cranial nerve morphology	1186	CLCN7	ORPHA:210110
HP:0001291	Abnormal cranial nerve morphology	9842	PLEKHM1	ORPHA:210110
HP:0001291	Abnormal cranial nerve morphology	7040	TGFB1	OMIM:131300
HP:0001291	Abnormal cranial nerve morphology	22943	DKK1	ORPHA:268882
HP:0001291	Abnormal cranial nerve morphology	4038	LRP4	OMIM:614305
HP:0001291	Abnormal cranial nerve morphology	7428	VHL	ORPHA:29072
HP:0001291	Abnormal cranial nerve morphology	7428	VHL	ORPHA:276621
HP:0001291	Abnormal cranial nerve morphology	1743	DLST	ORPHA:29072
HP:0001291	Abnormal cranial nerve morphology	4191	MDH2	ORPHA:29072
HP:0001291	Abnormal cranial nerve morphology	5979	RET	ORPHA:29072
HP:0001291	Abnormal cranial nerve morphology	5979	RET	ORPHA:276621
HP:0001291	Abnormal cranial nerve morphology	6389	SDHA	ORPHA:29072
HP:0001291	Abnormal cranial nerve morphology	23095	KIF1B	ORPHA:29072
HP:0001291	Abnormal cranial nerve morphology	2271	FH	ORPHA:29072
HP:0001291	Abnormal cranial nerve morphology	8402	SLC25A11	ORPHA:29072
HP:0001291	Abnormal cranial nerve morphology	54949	SDHAF2	ORPHA:29072
HP:0001291	Abnormal cranial nerve morphology	55654	TMEM127	ORPHA:29072
HP:0001291	Abnormal cranial nerve morphology	4763	NF1	ORPHA:29072
HP:0001291	Abnormal cranial nerve morphology	6391	SDHC	ORPHA:29072
HP:0001291	Abnormal cranial nerve morphology	6392	SDHD	ORPHA:29072
HP:0001291	Abnormal cranial nerve morphology	6392	SDHD	ORPHA:276621
HP:0001291	Abnormal cranial nerve morphology	6390	SDHB	ORPHA:29072
HP:0001291	Abnormal cranial nerve morphology	6390	SDHB	ORPHA:276621
HP:0001291	Abnormal cranial nerve morphology	4149	MAX	ORPHA:29072
HP:0001291	Abnormal cranial nerve morphology	1788	DNMT3A	ORPHA:276621
HP:0001291	Abnormal cranial nerve morphology	2034	EPAS1	ORPHA:276621
HP:0001291	Abnormal cranial nerve morphology	760	CA2	ORPHA:2785
HP:0001291	Abnormal cranial nerve morphology	3178	HNRNPA1	ORPHA:52430
HP:0001291	Abnormal cranial nerve morphology	7415	VCP	ORPHA:52430
HP:0001291	Abnormal cranial nerve morphology	3181	HNRNPA2B1	ORPHA:52430
HP:0001291	Abnormal cranial nerve morphology	8600	TNFSF11	OMIM:259710
HP:0001291	Abnormal cranial nerve morphology	113278	SLC52A3	OMIM:211530
HP:0001291	Abnormal cranial nerve morphology	27247	NFU1	OMIM:605711
HP:0001291	Abnormal cranial nerve morphology	1282	COL4A1	OMIM:175780
HP:0001291	Abnormal cranial nerve morphology	91574	MTRFR	OMIM:613559
HP:0001291	Abnormal cranial nerve morphology	773	CACNA1A	ORPHA:569
HP:0001291	Abnormal cranial nerve morphology	112476	PRRT2	ORPHA:569
HP:0001291	Abnormal cranial nerve morphology	6323	SCN1A	ORPHA:569
HP:0001291	Abnormal cranial nerve morphology	477	ATP1A2	ORPHA:569
HP:0001291	Abnormal cranial nerve morphology	79639	TMEM53	OMIM:619727
HP:0001291	Abnormal cranial nerve morphology	84196	USP48	ORPHA:96253
HP:0001291	Abnormal cranial nerve morphology	7157	TP53	ORPHA:96253
HP:0001291	Abnormal cranial nerve morphology	9101	USP8	ORPHA:96253
HP:0001291	Abnormal cranial nerve morphology	64072	CDH23	ORPHA:96253
HP:0001291	Abnormal cranial nerve morphology	2908	NR3C1	ORPHA:96253
HP:0001291	Abnormal cranial nerve morphology	673	BRAF	ORPHA:96253
HP:0001291	Abnormal cranial nerve morphology	546	ATRX	ORPHA:96253
HP:0001291	Abnormal cranial nerve morphology	29887	SNX10	ORPHA:667
HP:0001291	Abnormal cranial nerve morphology	3735	KARS1	OMIM:613641
HP:0001291	Abnormal cranial nerve morphology	11235	PDCD10	ORPHA:221061
HP:0001291	Abnormal cranial nerve morphology	5290	PIK3CA	ORPHA:221061
HP:0001291	Abnormal cranial nerve morphology	83605	CCM2	ORPHA:221061
HP:0001291	Abnormal cranial nerve morphology	889	KRIT1	ORPHA:221061
HP:0001291	Abnormal cranial nerve morphology	161742	SPRED1	ORPHA:137605
HP:0001291	Abnormal cranial nerve morphology	3265	HRAS	OMIM:218040
HP:0001291	Abnormal cranial nerve morphology	6598	SMARCB1	OMIM:162091
HP:0001291	Abnormal cranial nerve morphology	4771	NF2	OMIM:101000
HP:0001291	Abnormal cranial nerve morphology	51004	COQ6	ORPHA:93921
HP:0001291	Abnormal cranial nerve morphology	8216	LZTR1	ORPHA:93921
HP:0001291	Abnormal cranial nerve morphology	1690	COCH	OMIM:601369
HP:0001293	Cranial nerve compression	4221	MEN1	ORPHA:652
HP:0001293	Cranial nerve compression	1027	CDKN1B	ORPHA:652
HP:0001293	Cranial nerve compression	1026	CDKN1A	ORPHA:652
HP:0001293	Cranial nerve compression	1030	CDKN2B	ORPHA:652
HP:0001293	Cranial nerve compression	1031	CDKN2C	ORPHA:652
HP:0001293	Cranial nerve compression	1186	CLCN7	ORPHA:53
HP:0001293	Cranial nerve compression	1186	CLCN7	ORPHA:210110
HP:0001293	Cranial nerve compression	10312	TCIRG1	ORPHA:210110
HP:0001293	Cranial nerve compression	9842	PLEKHM1	ORPHA:210110
HP:0001293	Cranial nerve compression	7040	TGFB1	OMIM:131300
HP:0001293	Cranial nerve compression	22943	DKK1	ORPHA:268882
HP:0001293	Cranial nerve compression	4038	LRP4	OMIM:614305
HP:0001293	Cranial nerve compression	7428	VHL	ORPHA:29072
HP:0001293	Cranial nerve compression	7428	VHL	ORPHA:276621
HP:0001293	Cranial nerve compression	1743	DLST	ORPHA:29072
HP:0001293	Cranial nerve compression	4191	MDH2	ORPHA:29072
HP:0001293	Cranial nerve compression	5979	RET	ORPHA:29072
HP:0001293	Cranial nerve compression	5979	RET	ORPHA:276621
HP:0001293	Cranial nerve compression	6389	SDHA	ORPHA:29072
HP:0001293	Cranial nerve compression	23095	KIF1B	ORPHA:29072
HP:0001293	Cranial nerve compression	2271	FH	ORPHA:29072
HP:0001293	Cranial nerve compression	8402	SLC25A11	ORPHA:29072
HP:0001293	Cranial nerve compression	54949	SDHAF2	ORPHA:29072
HP:0001293	Cranial nerve compression	55654	TMEM127	ORPHA:29072
HP:0001293	Cranial nerve compression	4763	NF1	ORPHA:29072
HP:0001293	Cranial nerve compression	6391	SDHC	ORPHA:29072
HP:0001293	Cranial nerve compression	6392	SDHD	ORPHA:29072
HP:0001293	Cranial nerve compression	6392	SDHD	ORPHA:276621
HP:0001293	Cranial nerve compression	6390	SDHB	ORPHA:29072
HP:0001293	Cranial nerve compression	6390	SDHB	ORPHA:276621
HP:0001293	Cranial nerve compression	4149	MAX	ORPHA:29072
HP:0001293	Cranial nerve compression	1788	DNMT3A	ORPHA:276621
HP:0001293	Cranial nerve compression	2034	EPAS1	ORPHA:276621
HP:0001293	Cranial nerve compression	760	CA2	ORPHA:2785
HP:0001293	Cranial nerve compression	3178	HNRNPA1	ORPHA:52430
HP:0001293	Cranial nerve compression	7415	VCP	ORPHA:52430
HP:0001293	Cranial nerve compression	3181	HNRNPA2B1	ORPHA:52430
HP:0001293	Cranial nerve compression	8600	TNFSF11	OMIM:259710
HP:0001293	Cranial nerve compression	79628	SH3TC2	ORPHA:99949
HP:0001293	Cranial nerve compression	27247	NFU1	OMIM:605711
HP:0001293	Cranial nerve compression	1282	COL4A1	OMIM:175780
HP:0001293	Cranial nerve compression	91574	MTRFR	OMIM:613559
HP:0001293	Cranial nerve compression	773	CACNA1A	ORPHA:569
HP:0001293	Cranial nerve compression	112476	PRRT2	ORPHA:569
HP:0001293	Cranial nerve compression	6323	SCN1A	ORPHA:569
HP:0001293	Cranial nerve compression	477	ATP1A2	ORPHA:569
HP:0001293	Cranial nerve compression	79639	TMEM53	OMIM:619727
HP:0001293	Cranial nerve compression	8792	TNFRSF11A	OMIM:612301
HP:0001293	Cranial nerve compression	84196	USP48	ORPHA:96253
HP:0001293	Cranial nerve compression	7157	TP53	ORPHA:96253
HP:0001293	Cranial nerve compression	9101	USP8	ORPHA:96253
HP:0001293	Cranial nerve compression	64072	CDH23	ORPHA:96253
HP:0001293	Cranial nerve compression	2908	NR3C1	ORPHA:96253
HP:0001293	Cranial nerve compression	673	BRAF	ORPHA:96253
HP:0001293	Cranial nerve compression	546	ATRX	ORPHA:96253
HP:0001293	Cranial nerve compression	29887	SNX10	ORPHA:667
HP:0100022	Abnormality of movement	401	PHOX2A	ORPHA:45358
HP:0100022	Abnormality of movement	91754	NEK9	OMIM:617022
HP:0100022	Abnormality of movement	64221	ROBO3	OMIM:607313
HP:0100022	Abnormality of movement	7703	PCGF2	OMIM:618371
HP:0100022	Abnormality of movement	93986	FOXP2	ORPHA:251061
HP:0100022	Abnormality of movement	11198	SUPT16H	OMIM:619480
HP:0100022	Abnormality of movement	78989	COLEC11	OMIM:265050
HP:0100022	Abnormality of movement	4617	MYF5	OMIM:618155
HP:0100022	Abnormality of movement	23187	PHLDB1	OMIM:620639
HP:0100022	Abnormality of movement	126792	B3GALT6	ORPHA:536467
HP:0100022	Abnormality of movement	7042	TGFB2	OMIM:614816
HP:0100022	Abnormality of movement	57167	SALL4	ORPHA:233
HP:0100022	Abnormality of movement	1123	CHN1	ORPHA:233
HP:0100022	Abnormality of movement	7291	TWIST1	ORPHA:794
HP:0100022	Abnormality of movement	2263	FGFR2	ORPHA:794
HP:0100022	Abnormality of movement	2261	FGFR3	ORPHA:794
HP:0100022	Abnormality of movement	1816	DRD5	OMIM:606798
HP:0100022	Abnormality of movement	84172	POLR1B	ORPHA:861
HP:0100022	Abnormality of movement	51082	POLR1D	ORPHA:861
HP:0100022	Abnormality of movement	6949	TCOF1	ORPHA:861
HP:0100022	Abnormality of movement	1545	CYP1B1	ORPHA:98976
HP:0100022	Abnormality of movement	4053	LTBP2	ORPHA:98976
HP:0100022	Abnormality of movement	4653	MYOC	ORPHA:98976
HP:0100022	Abnormality of movement	7010	TEK	ORPHA:98976
HP:0100022	Abnormality of movement	4070	TACSTD2	ORPHA:98957
HP:0100022	Abnormality of movement	11152	WDR45	OMIM:300894
HP:0100022	Abnormality of movement	11152	WDR45	ORPHA:329284
HP:0100022	Abnormality of movement	25978	CHMP2B	OMIM:600795
HP:0100022	Abnormality of movement	4137	MAPT	OMIM:601104
HP:0100022	Abnormality of movement	4137	MAPT	ORPHA:240103
HP:0100022	Abnormality of movement	6908	TBP	OMIM:607136
HP:0100022	Abnormality of movement	19	ABCA1	OMIM:205400
HP:0100022	Abnormality of movement	7253	TSHR	ORPHA:90673
HP:0100022	Abnormality of movement	7252	TSHB	ORPHA:90674
HP:0100022	Abnormality of movement	2313	FLI1	ORPHA:370348
HP:0100022	Abnormality of movement	1187	CLCNKA	OMIM:613090
HP:0100022	Abnormality of movement	1188	CLCNKB	OMIM:613090
HP:0100022	Abnormality of movement	55699	IARS2	OMIM:616007
HP:0100022	Abnormality of movement	59335	PRDM12	OMIM:616488
HP:0100022	Abnormality of movement	4669	NAGLU	OMIM:616491
HP:0100022	Abnormality of movement	91949	COG7	ORPHA:79333
HP:0100022	Abnormality of movement	91949	COG7	OMIM:608779
HP:0100022	Abnormality of movement	51651	PTRH2	OMIM:616263
HP:0100022	Abnormality of movement	51013	EXOSC1	OMIM:619304
HP:0100022	Abnormality of movement	5910	RAP1GDS1	OMIM:620655
HP:0100022	Abnormality of movement	9488	PIGB	OMIM:618580
HP:0100022	Abnormality of movement	79705	LRRK1	OMIM:615198
HP:0100022	Abnormality of movement	79912	PYROXD1	OMIM:617258
HP:0100022	Abnormality of movement	256297	PTF1A	OMIM:609069
HP:0100022	Abnormality of movement	92667	MGME1	OMIM:615084
HP:0100022	Abnormality of movement	92667	MGME1	ORPHA:352447
HP:0100022	Abnormality of movement	84892	POMGNT2	ORPHA:899
HP:0100022	Abnormality of movement	10329	RXYLT1	ORPHA:899
HP:0100022	Abnormality of movement	11041	B4GAT1	ORPHA:899
HP:0100022	Abnormality of movement	57551	TAOK1	OMIM:619575
HP:0100022	Abnormality of movement	463	ZFHX3	OMIM:600223
HP:0100022	Abnormality of movement	7809	BSND	OMIM:602522
HP:0100022	Abnormality of movement	55687	TRMU	ORPHA:254864
HP:0100022	Abnormality of movement	9759	HDAC4	OMIM:600430
HP:0100022	Abnormality of movement	9987	HNRNPDL	OMIM:609115
HP:0100022	Abnormality of movement	1351	COX8A	OMIM:619059
HP:0100022	Abnormality of movement	10801	SEPTIN9	OMIM:162100
HP:0100022	Abnormality of movement	5626	PROP1	ORPHA:226307
HP:0100022	Abnormality of movement	89884	LHX4	ORPHA:226307
HP:0100022	Abnormality of movement	8022	LHX3	ORPHA:226307
HP:0100022	Abnormality of movement	5449	POU1F1	ORPHA:226307
HP:0100022	Abnormality of movement	79753	SNIP1	OMIM:614501
HP:0100022	Abnormality of movement	51750	RTEL1	ORPHA:3322
HP:0100022	Abnormality of movement	65057	ACD	ORPHA:3322
HP:0100022	Abnormality of movement	5073	PARN	ORPHA:3322
HP:0100022	Abnormality of movement	1736	DKC1	ORPHA:3322
HP:0100022	Abnormality of movement	26353	HSPB8	OMIM:608673
HP:0100022	Abnormality of movement	65125	WNK1	OMIM:201300
HP:0100022	Abnormality of movement	54463	RETREG1	OMIM:201300
HP:0100022	Abnormality of movement	54463	RETREG1	OMIM:613115
HP:0100022	Abnormality of movement	51807	TUBA8	ORPHA:250972
HP:0100022	Abnormality of movement	5191	PEX7	OMIM:266500
HP:0100022	Abnormality of movement	5264	PHYH	OMIM:266500
HP:0100022	Abnormality of movement	405753	DUOXA2	ORPHA:95716
HP:0100022	Abnormality of movement	6528	SLC5A5	ORPHA:95716
HP:0100022	Abnormality of movement	7038	TG	ORPHA:95716
HP:0100022	Abnormality of movement	7173	TPO	ORPHA:95716
HP:0100022	Abnormality of movement	389434	IYD	ORPHA:95716
HP:0100022	Abnormality of movement	50506	DUOX2	ORPHA:95716
HP:0100022	Abnormality of movement	9181	ARHGEF2	OMIM:617523
HP:0100022	Abnormality of movement	84520	GON7	OMIM:619603
HP:0100022	Abnormality of movement	57731	SPTBN4	OMIM:617519
HP:0100022	Abnormality of movement	56704	JPH1	OMIM:607831
HP:0100022	Abnormality of movement	8566	PDXK	OMIM:618511
HP:0100022	Abnormality of movement	1020	CDK5	OMIM:616342
HP:0100022	Abnormality of movement	966	CD59	OMIM:612300
HP:0100022	Abnormality of movement	4632	MYL1	OMIM:618414
HP:0100022	Abnormality of movement	57863	CADM3	OMIM:619519
HP:0100022	Abnormality of movement	9342	SNAP29	OMIM:609528
HP:0100022	Abnormality of movement	9342	SNAP29	ORPHA:66631
HP:0100022	Abnormality of movement	667	DST	OMIM:614653
HP:0100022	Abnormality of movement	23590	PDSS1	OMIM:614651
HP:0100022	Abnormality of movement	56052	ALG1	OMIM:608540
HP:0100022	Abnormality of movement	270	AMPD1	OMIM:615511
HP:0100022	Abnormality of movement	51008	ASCC1	OMIM:616867
HP:0100022	Abnormality of movement	1890	TYMP	OMIM:603041
HP:0100022	Abnormality of movement	859	CAV3	ORPHA:488650
HP:0100022	Abnormality of movement	29929	ALG6	OMIM:603147
HP:0100022	Abnormality of movement	132001	TAMM41	OMIM:620139
HP:0100022	Abnormality of movement	3064	HTT	ORPHA:399
HP:0100022	Abnormality of movement	6515	SLC2A3	ORPHA:399
HP:0100022	Abnormality of movement	4524	MTHFR	ORPHA:395
HP:0100022	Abnormality of movement	4524	MTHFR	OMIM:236250
HP:0100022	Abnormality of movement	3094	HINT1	ORPHA:324442
HP:0100022	Abnormality of movement	6834	SURF1	OMIM:616684
HP:0100022	Abnormality of movement	27247	NFU1	OMIM:620938
HP:0100022	Abnormality of movement	8518	ELP1	ORPHA:1764
HP:0100022	Abnormality of movement	22880	MORC2	OMIM:616688
HP:0100022	Abnormality of movement	22880	MORC2	ORPHA:466768
HP:0100022	Abnormality of movement	1161	ERCC8	ORPHA:90324
HP:0100022	Abnormality of movement	1161	ERCC8	ORPHA:90321
HP:0100022	Abnormality of movement	1161	ERCC8	ORPHA:90322
HP:0100022	Abnormality of movement	1161	ERCC8	OMIM:216400
HP:0100022	Abnormality of movement	2074	ERCC6	ORPHA:90324
HP:0100022	Abnormality of movement	2074	ERCC6	ORPHA:90321
HP:0100022	Abnormality of movement	2074	ERCC6	ORPHA:90322
HP:0100022	Abnormality of movement	1024	CDK8	OMIM:618748
HP:0100022	Abnormality of movement	60684	TRAPPC11	OMIM:615356
HP:0100022	Abnormality of movement	60684	TRAPPC11	ORPHA:369840
HP:0100022	Abnormality of movement	60684	TRAPPC11	ORPHA:369847
HP:0100022	Abnormality of movement	2720	GLB1	OMIM:230600
HP:0100022	Abnormality of movement	84334	COA8	ORPHA:436271
HP:0100022	Abnormality of movement	5927	KDM5A	OMIM:620820
HP:0100022	Abnormality of movement	825	CAPN3	OMIM:253600
HP:0100022	Abnormality of movement	825	CAPN3	ORPHA:267
HP:0100022	Abnormality of movement	825	CAPN3	OMIM:618129
HP:0100022	Abnormality of movement	51	ACOX1	ORPHA:2971
HP:0100022	Abnormality of movement	51	ACOX1	OMIM:618960
HP:0100022	Abnormality of movement	10159	ATP6AP2	ORPHA:93952
HP:0100022	Abnormality of movement	10159	ATP6AP2	OMIM:300423
HP:0100022	Abnormality of movement	22947	DUX4L1	ORPHA:269
HP:0100022	Abnormality of movement	1789	DNMT3B	ORPHA:269
HP:0100022	Abnormality of movement	2483	FRG1	ORPHA:269
HP:0100022	Abnormality of movement	23347	SMCHD1	ORPHA:269
HP:0100022	Abnormality of movement	100288687	DUX4	ORPHA:269
HP:0100022	Abnormality of movement	2072	ERCC4	ORPHA:90321
HP:0100022	Abnormality of movement	2067	ERCC1	ORPHA:90322
HP:0100022	Abnormality of movement	4000	LMNA	OMIM:181350
HP:0100022	Abnormality of movement	4000	LMNA	ORPHA:157973
HP:0100022	Abnormality of movement	4000	LMNA	ORPHA:98855
HP:0100022	Abnormality of movement	4000	LMNA	ORPHA:98853
HP:0100022	Abnormality of movement	4000	LMNA	OMIM:616516
HP:0100022	Abnormality of movement	4072	EPCAM	ORPHA:144
HP:0100022	Abnormality of movement	4292	MLH1	ORPHA:144
HP:0100022	Abnormality of movement	5395	PMS2	ORPHA:144
HP:0100022	Abnormality of movement	7048	TGFBR2	ORPHA:144
HP:0100022	Abnormality of movement	3845	KRAS	ORPHA:144
HP:0100022	Abnormality of movement	5290	PIK3CA	ORPHA:144
HP:0100022	Abnormality of movement	5290	PIK3CA	ORPHA:140944
HP:0100022	Abnormality of movement	5290	PIK3CA	ORPHA:2495
HP:0100022	Abnormality of movement	2956	MSH6	ORPHA:144
HP:0100022	Abnormality of movement	5378	PMS1	ORPHA:144
HP:0100022	Abnormality of movement	4436	MSH2	ORPHA:144
HP:0100022	Abnormality of movement	5631	PRPS1	ORPHA:99014
HP:0100022	Abnormality of movement	5631	PRPS1	OMIM:311070
HP:0100022	Abnormality of movement	3074	HEXB	ORPHA:309162
HP:0100022	Abnormality of movement	5917	RARS1	ORPHA:438114
HP:0100022	Abnormality of movement	6616	SNAP25	OMIM:616330
HP:0100022	Abnormality of movement	6616	SNAP25	ORPHA:98914
HP:0100022	Abnormality of movement	64218	SEMA4A	ORPHA:440437
HP:0100022	Abnormality of movement	5426	POLE	ORPHA:440437
HP:0100022	Abnormality of movement	675	BRCA2	ORPHA:440437
HP:0100022	Abnormality of movement	657	BMPR1A	ORPHA:440437
HP:0100022	Abnormality of movement	6224	RPS20	ORPHA:440437
HP:0100022	Abnormality of movement	4595	MUTYH	ORPHA:440437
HP:0100022	Abnormality of movement	5424	POLD1	ORPHA:440437
HP:0100022	Abnormality of movement	11200	CHEK2	ORPHA:440437
HP:0100022	Abnormality of movement	23322	RPGRIP1L	ORPHA:220497
HP:0100022	Abnormality of movement	23322	RPGRIP1L	ORPHA:1454
HP:0100022	Abnormality of movement	4867	NPHP1	ORPHA:220497
HP:0100022	Abnormality of movement	65062	TMEM237	ORPHA:220497
HP:0100022	Abnormality of movement	65062	TMEM237	ORPHA:475
HP:0100022	Abnormality of movement	54806	AHI1	ORPHA:220493
HP:0100022	Abnormality of movement	54806	AHI1	ORPHA:475
HP:0100022	Abnormality of movement	56623	INPP5E	ORPHA:220493
HP:0100022	Abnormality of movement	56623	INPP5E	ORPHA:475
HP:0100022	Abnormality of movement	56623	INPP5E	ORPHA:1454
HP:0100022	Abnormality of movement	153241	CEP120	ORPHA:220493
HP:0100022	Abnormality of movement	153241	CEP120	ORPHA:475
HP:0100022	Abnormality of movement	54903	MKS1	ORPHA:220493
HP:0100022	Abnormality of movement	54903	MKS1	ORPHA:475
HP:0100022	Abnormality of movement	95681	CEP41	ORPHA:220493
HP:0100022	Abnormality of movement	95681	CEP41	ORPHA:475
HP:0100022	Abnormality of movement	54681	P4HTM	ORPHA:436141
HP:0100022	Abnormality of movement	120227	CYP2R1	OMIM:600081
HP:0100022	Abnormality of movement	120227	CYP2R1	ORPHA:289157
HP:0100022	Abnormality of movement	81846	SBF2	OMIM:604563
HP:0100022	Abnormality of movement	81846	SBF2	ORPHA:99956
HP:0100022	Abnormality of movement	22954	TRIM32	ORPHA:1878
HP:0100022	Abnormality of movement	4625	MYH7	OMIM:160500
HP:0100022	Abnormality of movement	4625	MYH7	ORPHA:59135
HP:0100022	Abnormality of movement	4625	MYH7	OMIM:608358
HP:0100022	Abnormality of movement	23400	ATP13A2	ORPHA:314632
HP:0100022	Abnormality of movement	23400	ATP13A2	ORPHA:513436
HP:0100022	Abnormality of movement	23400	ATP13A2	ORPHA:306674
HP:0100022	Abnormality of movement	23400	ATP13A2	OMIM:606693
HP:0100022	Abnormality of movement	410	ARSA	ORPHA:309271
HP:0100022	Abnormality of movement	410	ARSA	OMIM:250100
HP:0100022	Abnormality of movement	5660	PSAP	ORPHA:309271
HP:0100022	Abnormality of movement	6444	SGCD	OMIM:601287
HP:0100022	Abnormality of movement	60482	SLC5A7	OMIM:158580
HP:0100022	Abnormality of movement	60482	SLC5A7	ORPHA:98914
HP:0100022	Abnormality of movement	348	APOE	OMIM:607822
HP:0100022	Abnormality of movement	5663	PSEN1	OMIM:607822
HP:0100022	Abnormality of movement	5663	PSEN1	ORPHA:275864
HP:0100022	Abnormality of movement	57589	RIC1	OMIM:618761
HP:0100022	Abnormality of movement	1600	DAB1	ORPHA:363710
HP:0100022	Abnormality of movement	4358	MPV17	OMIM:618400
HP:0100022	Abnormality of movement	4358	MPV17	OMIM:256810
HP:0100022	Abnormality of movement	5832	ALDH18A1	OMIM:616586
HP:0100022	Abnormality of movement	5832	ALDH18A1	OMIM:601162
HP:0100022	Abnormality of movement	55154	MSTO1	OMIM:617675
HP:0100022	Abnormality of movement	55154	MSTO1	ORPHA:502423
HP:0100022	Abnormality of movement	215	ABCD1	ORPHA:139396
HP:0100022	Abnormality of movement	199857	ALG14	OMIM:616227
HP:0100022	Abnormality of movement	199857	ALG14	ORPHA:353327
HP:0100022	Abnormality of movement	51308	REEP2	OMIM:620606
HP:0100022	Abnormality of movement	1759	DNM1	OMIM:616346
HP:0100022	Abnormality of movement	1759	DNM1	ORPHA:442835
HP:0100022	Abnormality of movement	81857	MED25	ORPHA:464738
HP:0100022	Abnormality of movement	83480	PUS3	ORPHA:488627
HP:0100022	Abnormality of movement	2697	GJA1	ORPHA:2710
HP:0100022	Abnormality of movement	343641	TGM6	ORPHA:276193
HP:0100022	Abnormality of movement	343641	TGM6	OMIM:613908
HP:0100022	Abnormality of movement	5354	PLP1	ORPHA:280210
HP:0100022	Abnormality of movement	5354	PLP1	ORPHA:280219
HP:0100022	Abnormality of movement	5354	PLP1	ORPHA:280234
HP:0100022	Abnormality of movement	5354	PLP1	ORPHA:280229
HP:0100022	Abnormality of movement	8726	EED	OMIM:617561
HP:0100022	Abnormality of movement	10715	CERS1	OMIM:616230
HP:0100022	Abnormality of movement	11107	PRDM5	OMIM:614170
HP:0100022	Abnormality of movement	11107	PRDM5	ORPHA:90354
HP:0100022	Abnormality of movement	5297	PI4KA	OMIM:619621
HP:0100022	Abnormality of movement	1656	DDX6	OMIM:618653
HP:0100022	Abnormality of movement	1594	CYP27B1	OMIM:264700
HP:0100022	Abnormality of movement	1594	CYP27B1	ORPHA:289157
HP:0100022	Abnormality of movement	8789	FBP2	OMIM:619864
HP:0100022	Abnormality of movement	83636	C19orf12	OMIM:614298
HP:0100022	Abnormality of movement	83636	C19orf12	OMIM:615043
HP:0100022	Abnormality of movement	246243	RNASEH1	OMIM:616479
HP:0100022	Abnormality of movement	80208	SPG11	ORPHA:2822
HP:0100022	Abnormality of movement	80208	SPG11	ORPHA:300605
HP:0100022	Abnormality of movement	80208	SPG11	OMIM:616668
HP:0100022	Abnormality of movement	51271	UBAP1	OMIM:618418
HP:0100022	Abnormality of movement	51271	UBAP1	ORPHA:100993
HP:0100022	Abnormality of movement	55526	DHTKD1	OMIM:615025
HP:0100022	Abnormality of movement	88	ACTN2	OMIM:618655
HP:0100022	Abnormality of movement	5376	PMP22	ORPHA:90658
HP:0100022	Abnormality of movement	5376	PMP22	ORPHA:101081
HP:0100022	Abnormality of movement	5376	PMP22	OMIM:118300
HP:0100022	Abnormality of movement	5376	PMP22	ORPHA:3115
HP:0100022	Abnormality of movement	7471	WNT1	ORPHA:85193
HP:0100022	Abnormality of movement	22943	DKK1	ORPHA:85193
HP:0100022	Abnormality of movement	89780	WNT3A	ORPHA:85193
HP:0100022	Abnormality of movement	3737	KCNA2	ORPHA:442835
HP:0100022	Abnormality of movement	8120	AP3B2	ORPHA:442835
HP:0100022	Abnormality of movement	523	ATP6V1A	ORPHA:442835
HP:0100022	Abnormality of movement	523	ATP6V1A	OMIM:618012
HP:0100022	Abnormality of movement	10991	SLC38A3	ORPHA:442835
HP:0100022	Abnormality of movement	51343	FZR1	ORPHA:442835
HP:0100022	Abnormality of movement	3747	KCNC2	ORPHA:442835
HP:0100022	Abnormality of movement	1917	EEF1A2	ORPHA:442835
HP:0100022	Abnormality of movement	23219	FBXO28	ORPHA:442835
HP:0100022	Abnormality of movement	2561	GABRB2	ORPHA:442835
HP:0100022	Abnormality of movement	2561	GABRB2	OMIM:617829
HP:0100022	Abnormality of movement	8831	SYNGAP1	ORPHA:442835
HP:0100022	Abnormality of movement	8831	SYNGAP1	ORPHA:544254
HP:0100022	Abnormality of movement	2558	GABRA5	ORPHA:442835
HP:0100022	Abnormality of movement	2906	GRIN2D	ORPHA:442835
HP:0100022	Abnormality of movement	116150	NUS1	ORPHA:442835
HP:0100022	Abnormality of movement	1213	CLTC	ORPHA:442835
HP:0100022	Abnormality of movement	51741	WWOX	ORPHA:442835
HP:0100022	Abnormality of movement	23334	SZT2	ORPHA:442835
HP:0100022	Abnormality of movement	348980	HCN1	ORPHA:442835
HP:0100022	Abnormality of movement	25977	NECAP1	ORPHA:442835
HP:0100022	Abnormality of movement	23241	PACS2	ORPHA:442835
HP:0100022	Abnormality of movement	16	AARS1	ORPHA:442835
HP:0100022	Abnormality of movement	16	AARS1	OMIM:619661
HP:0100022	Abnormality of movement	6334	SCN8A	ORPHA:442835
HP:0100022	Abnormality of movement	2555	GABRA2	ORPHA:442835
HP:0100022	Abnormality of movement	55152	DALRD3	ORPHA:442835
HP:0100022	Abnormality of movement	26999	CYFIP2	ORPHA:442835
HP:0100022	Abnormality of movement	4915	NTRK2	ORPHA:442835
HP:0100022	Abnormality of movement	25973	PARS2	ORPHA:442835
HP:0100022	Abnormality of movement	23097	CDK19	ORPHA:442835
HP:0100022	Abnormality of movement	2257	FGF12	ORPHA:442835
HP:0100022	Abnormality of movement	2257	FGF12	OMIM:617166
HP:0100022	Abnormality of movement	5530	PPP3CA	ORPHA:442835
HP:0100022	Abnormality of movement	478	ATP1A3	ORPHA:442835
HP:0100022	Abnormality of movement	22906	TRAK1	ORPHA:442835
HP:0100022	Abnormality of movement	2566	GABRG2	ORPHA:442835
HP:0100022	Abnormality of movement	7532	YWHAG	ORPHA:442835
HP:0100022	Abnormality of movement	79876	UBA5	ORPHA:442835
HP:0100022	Abnormality of movement	6328	SCN3A	ORPHA:442835
HP:0100022	Abnormality of movement	781	CACNA2D1	ORPHA:442835
HP:0100022	Abnormality of movement	10659	CELF2	ORPHA:442835
HP:0100022	Abnormality of movement	774	CACNA1B	ORPHA:442835
HP:0100022	Abnormality of movement	51412	ACTL6B	ORPHA:442835
HP:0100022	Abnormality of movement	2290	FOXG1	ORPHA:442835
HP:0100022	Abnormality of movement	6506	SLC1A2	ORPHA:442835
HP:0100022	Abnormality of movement	477	ATP1A2	ORPHA:442835
HP:0100022	Abnormality of movement	3745	KCNB1	ORPHA:442835
HP:0100022	Abnormality of movement	284111	SLC13A5	ORPHA:442835
HP:0100022	Abnormality of movement	22866	CNKSR2	ORPHA:442835
HP:0100022	Abnormality of movement	773	CACNA1A	ORPHA:442835
HP:0100022	Abnormality of movement	6323	SCN1A	ORPHA:442835
HP:0100022	Abnormality of movement	79947	DHDDS	ORPHA:442835
HP:0100022	Abnormality of movement	26834	RNU4-2	OMIM:620851
HP:0100022	Abnormality of movement	10528	NOP56	ORPHA:276198
HP:0100022	Abnormality of movement	4854	NOTCH3	OMIM:125310
HP:0100022	Abnormality of movement	4854	NOTCH3	ORPHA:136
HP:0100022	Abnormality of movement	9851	KIAA0753	ORPHA:475
HP:0100022	Abnormality of movement	9851	KIAA0753	ORPHA:2754
HP:0100022	Abnormality of movement	5147	PDE6D	ORPHA:475
HP:0100022	Abnormality of movement	5147	PDE6D	ORPHA:2754
HP:0100022	Abnormality of movement	79600	TCTN1	ORPHA:475
HP:0100022	Abnormality of movement	79848	CSPP1	ORPHA:475
HP:0100022	Abnormality of movement	8481	OFD1	ORPHA:475
HP:0100022	Abnormality of movement	8481	OFD1	ORPHA:2754
HP:0100022	Abnormality of movement	51684	SUFU	ORPHA:475
HP:0100022	Abnormality of movement	51684	SUFU	ORPHA:2495
HP:0100022	Abnormality of movement	91147	TMEM67	ORPHA:475
HP:0100022	Abnormality of movement	91147	TMEM67	ORPHA:1454
HP:0100022	Abnormality of movement	200894	ARL13B	ORPHA:475
HP:0100022	Abnormality of movement	9731	CEP104	ORPHA:475
HP:0100022	Abnormality of movement	219844	HYLS1	ORPHA:475
HP:0100022	Abnormality of movement	23247	KATNIP	ORPHA:475
HP:0100022	Abnormality of movement	219854	TMEM218	ORPHA:475
HP:0100022	Abnormality of movement	9786	KIAA0586	ORPHA:475
HP:0100022	Abnormality of movement	26123	TCTN3	ORPHA:475
HP:0100022	Abnormality of movement	26123	TCTN3	ORPHA:2754
HP:0100022	Abnormality of movement	79867	TCTN2	ORPHA:475
HP:0100022	Abnormality of movement	79867	TCTN2	OMIM:616654
HP:0100022	Abnormality of movement	80776	B9D2	ORPHA:475
HP:0100022	Abnormality of movement	10464	PIBF1	ORPHA:475
HP:0100022	Abnormality of movement	80210	ARMC9	ORPHA:475
HP:0100022	Abnormality of movement	23116	TOGARAM1	ORPHA:475
HP:0100022	Abnormality of movement	25776	CBY1	ORPHA:475
HP:0100022	Abnormality of movement	27077	B9D1	ORPHA:475
HP:0100022	Abnormality of movement	403	ARL3	ORPHA:475
HP:0100022	Abnormality of movement	80173	IFT74	ORPHA:475
HP:0100022	Abnormality of movement	5654	HTRA1	ORPHA:199354
HP:0100022	Abnormality of movement	5654	HTRA1	OMIM:600142
HP:0100022	Abnormality of movement	5654	HTRA1	OMIM:616779
HP:0100022	Abnormality of movement	7273	TTN	OMIM:603689
HP:0100022	Abnormality of movement	7273	TTN	ORPHA:178464
HP:0100022	Abnormality of movement	7273	TTN	ORPHA:609
HP:0100022	Abnormality of movement	9131	AIFM1	ORPHA:101078
HP:0100022	Abnormality of movement	9131	AIFM1	ORPHA:83629
HP:0100022	Abnormality of movement	1763	DNA2	OMIM:615156
HP:0100022	Abnormality of movement	1763	DNA2	ORPHA:352470
HP:0100022	Abnormality of movement	91574	MTRFR	OMIM:615035
HP:0100022	Abnormality of movement	91574	MTRFR	ORPHA:254930
HP:0100022	Abnormality of movement	142680	SLC34A3	OMIM:241530
HP:0100022	Abnormality of movement	84504	NKX6-2	ORPHA:527497
HP:0100022	Abnormality of movement	203859	ANO5	ORPHA:399096
HP:0100022	Abnormality of movement	55773	TBC1D23	OMIM:617695
HP:0100022	Abnormality of movement	391356	PTRHD1	OMIM:620747
HP:0100022	Abnormality of movement	5590	PRKCZ	ORPHA:1606
HP:0100022	Abnormality of movement	2563	GABRD	ORPHA:1606
HP:0100022	Abnormality of movement	23013	SPEN	ORPHA:1606
HP:0100022	Abnormality of movement	8510	MMP23B	ORPHA:1606
HP:0100022	Abnormality of movement	7798	LUZP1	ORPHA:1606
HP:0100022	Abnormality of movement	6497	SKI	ORPHA:1606
HP:0100022	Abnormality of movement	10630	PDPN	ORPHA:1606
HP:0100022	Abnormality of movement	3339	HSPG2	ORPHA:1606
HP:0100022	Abnormality of movement	3339	HSPG2	ORPHA:800
HP:0100022	Abnormality of movement	10277	UBE4B	ORPHA:1606
HP:0100022	Abnormality of movement	8514	KCNAB2	ORPHA:1606
HP:0100022	Abnormality of movement	473	RERE	ORPHA:1606
HP:0100022	Abnormality of movement	63976	PRDM16	ORPHA:1606
HP:0100022	Abnormality of movement	54897	CASZ1	ORPHA:1606
HP:0100022	Abnormality of movement	2705	GJB1	ORPHA:101075
HP:0100022	Abnormality of movement	2705	GJB1	OMIM:302800
HP:0100022	Abnormality of movement	1859	DYRK1A	ORPHA:464311
HP:0100022	Abnormality of movement	1859	DYRK1A	ORPHA:268261
HP:0100022	Abnormality of movement	1859	DYRK1A	OMIM:614104
HP:0100022	Abnormality of movement	8517	IKBKG	ORPHA:464
HP:0100022	Abnormality of movement	3766	KCNJ10	ORPHA:199343
HP:0100022	Abnormality of movement	6305	SBF1	OMIM:615284
HP:0100022	Abnormality of movement	55958	KLHL9	ORPHA:399081
HP:0100022	Abnormality of movement	8733	GPAA1	ORPHA:529665
HP:0100022	Abnormality of movement	5621	PRNP	ORPHA:157941
HP:0100022	Abnormality of movement	6329	SCN4A	OMIM:614198
HP:0100022	Abnormality of movement	6329	SCN4A	ORPHA:682
HP:0100022	Abnormality of movement	6329	SCN4A	ORPHA:99735
HP:0100022	Abnormality of movement	6329	SCN4A	ORPHA:99736
HP:0100022	Abnormality of movement	6329	SCN4A	ORPHA:99734
HP:0100022	Abnormality of movement	6621	SNAPC4	OMIM:620515
HP:0100022	Abnormality of movement	400916	CHCHD10	OMIM:615048
HP:0100022	Abnormality of movement	400916	CHCHD10	ORPHA:276435
HP:0100022	Abnormality of movement	11160	ERLIN2	OMIM:620512
HP:0100022	Abnormality of movement	11160	ERLIN2	OMIM:611225
HP:0100022	Abnormality of movement	6901	TAFAZZIN	OMIM:302060
HP:0100022	Abnormality of movement	9338	TCEAL1	OMIM:301094
HP:0100022	Abnormality of movement	57192	MCOLN1	ORPHA:578
HP:0100022	Abnormality of movement	84627	ZNF469	ORPHA:90354
HP:0100022	Abnormality of movement	57104	PNPLA2	OMIM:610717
HP:0100022	Abnormality of movement	57104	PNPLA2	ORPHA:98908
HP:0100022	Abnormality of movement	1436	CSF1R	OMIM:221820
HP:0100022	Abnormality of movement	1436	CSF1R	OMIM:618476
HP:0100022	Abnormality of movement	54941	RNF125	OMIM:616260
HP:0100022	Abnormality of movement	339855	KY	OMIM:617114
HP:0100022	Abnormality of movement	10463	SLC30A9	OMIM:617595
HP:0100022	Abnormality of movement	57679	ALS2	OMIM:205100
HP:0100022	Abnormality of movement	57679	ALS2	ORPHA:300605
HP:0100022	Abnormality of movement	6709	SPTAN1	OMIM:620528
HP:0100022	Abnormality of movement	6709	SPTAN1	OMIM:620538
HP:0100022	Abnormality of movement	6572	SLC18A3	OMIM:617239
HP:0100022	Abnormality of movement	6572	SLC18A3	ORPHA:98914
HP:0100022	Abnormality of movement	10229	COQ7	OMIM:620402
HP:0100022	Abnormality of movement	6843	VAMP1	ORPHA:251282
HP:0100022	Abnormality of movement	6843	VAMP1	OMIM:108600
HP:0100022	Abnormality of movement	6843	VAMP1	ORPHA:98914
HP:0100022	Abnormality of movement	1967	EIF2B1	OMIM:603896
HP:0100022	Abnormality of movement	79628	SH3TC2	OMIM:601596
HP:0100022	Abnormality of movement	79628	SH3TC2	ORPHA:99949
HP:0100022	Abnormality of movement	2512	FTL	ORPHA:157846
HP:0100022	Abnormality of movement	2629	GBA1	ORPHA:77261
HP:0100022	Abnormality of movement	4883	NPR3	OMIM:619543
HP:0100022	Abnormality of movement	26173	INTS1	OMIM:618571
HP:0100022	Abnormality of movement	3508	IGHMBP2	OMIM:616155
HP:0100022	Abnormality of movement	2583	B4GALNT1	OMIM:609195
HP:0100022	Abnormality of movement	2583	B4GALNT1	ORPHA:101006
HP:0100022	Abnormality of movement	11232	POLG2	OMIM:619425
HP:0100022	Abnormality of movement	11232	POLG2	ORPHA:254892
HP:0100022	Abnormality of movement	5081	PAX7	OMIM:618578
HP:0100022	Abnormality of movement	8291	DYSF	ORPHA:45448
HP:0100022	Abnormality of movement	6443	SGCB	ORPHA:119
HP:0100022	Abnormality of movement	78987	CRELD1	OMIM:620771
HP:0100022	Abnormality of movement	165918	RNF168	ORPHA:420741
HP:0100022	Abnormality of movement	4001	LMNB1	ORPHA:99027
HP:0100022	Abnormality of movement	2260	FGFR1	ORPHA:478
HP:0100022	Abnormality of movement	10371	SEMA3A	ORPHA:478
HP:0100022	Abnormality of movement	81848	SPRY4	ORPHA:478
HP:0100022	Abnormality of movement	23767	FLRT3	ORPHA:478
HP:0100022	Abnormality of movement	128674	PROKR2	ORPHA:478
HP:0100022	Abnormality of movement	79625	NDNF	ORPHA:478
HP:0100022	Abnormality of movement	2253	FGF8	ORPHA:478
HP:0100022	Abnormality of movement	389549	FEZF1	ORPHA:478
HP:0100022	Abnormality of movement	3730	ANOS1	ORPHA:478
HP:0100022	Abnormality of movement	54756	IL17RD	ORPHA:478
HP:0100022	Abnormality of movement	6663	SOX10	ORPHA:478
HP:0100022	Abnormality of movement	285025	CCDC141	ORPHA:478
HP:0100022	Abnormality of movement	60675	PROK2	ORPHA:478
HP:0100022	Abnormality of movement	55636	CHD7	ORPHA:478
HP:0100022	Abnormality of movement	1848	DUSP6	ORPHA:478
HP:0100022	Abnormality of movement	6870	TACR3	ORPHA:478
HP:0100022	Abnormality of movement	55717	WDR11	ORPHA:478
HP:0100022	Abnormality of movement	9394	HS6ST1	ORPHA:478
HP:0100022	Abnormality of movement	8820	HESX1	ORPHA:478
HP:0100022	Abnormality of movement	8822	FGF17	ORPHA:478
HP:0100022	Abnormality of movement	54808	DYM	ORPHA:239
HP:0100022	Abnormality of movement	149233	IL23R	ORPHA:117
HP:0100022	Abnormality of movement	6775	STAT4	ORPHA:117
HP:0100022	Abnormality of movement	3586	IL10	ORPHA:117
HP:0100022	Abnormality of movement	4210	MEFV	ORPHA:117
HP:0100022	Abnormality of movement	1230	CCR1	ORPHA:117
HP:0100022	Abnormality of movement	355	FAS	ORPHA:117
HP:0100022	Abnormality of movement	3592	IL12A	ORPHA:117
HP:0100022	Abnormality of movement	101928376	IL12A-AS1	ORPHA:117
HP:0100022	Abnormality of movement	3106	HLA-B	ORPHA:117
HP:0100022	Abnormality of movement	7099	TLR4	ORPHA:117
HP:0100022	Abnormality of movement	3459	IFNGR1	ORPHA:117
HP:0100022	Abnormality of movement	720	C4A	ORPHA:117
HP:0100022	Abnormality of movement	337867	UBAC2	ORPHA:117
HP:0100022	Abnormality of movement	51752	ERAP1	ORPHA:117
HP:0100022	Abnormality of movement	8302	KLRC4	ORPHA:117
HP:0100022	Abnormality of movement	23064	SETX	OMIM:602433
HP:0100022	Abnormality of movement	23064	SETX	ORPHA:357043
HP:0100022	Abnormality of movement	291	SLC25A4	ORPHA:254892
HP:0100022	Abnormality of movement	50484	RRM2B	ORPHA:254892
HP:0100022	Abnormality of movement	23111	SPART	OMIM:275900
HP:0100022	Abnormality of movement	10020	GNE	OMIM:605820
HP:0100022	Abnormality of movement	4512	MT-CO1	ORPHA:550
HP:0100022	Abnormality of movement	4512	MT-CO1	ORPHA:99845
HP:0100022	Abnormality of movement	4513	MT-CO2	ORPHA:550
HP:0100022	Abnormality of movement	4514	MT-CO3	ORPHA:550
HP:0100022	Abnormality of movement	4514	MT-CO3	ORPHA:99845
HP:0100022	Abnormality of movement	4578	MT-TW	ORPHA:550
HP:0100022	Abnormality of movement	4541	MT-ND6	ORPHA:550
HP:0100022	Abnormality of movement	4535	MT-ND1	ORPHA:550
HP:0100022	Abnormality of movement	4538	MT-ND4	ORPHA:550
HP:0100022	Abnormality of movement	10059	DNM1L	ORPHA:330050
HP:0100022	Abnormality of movement	10059	DNM1L	ORPHA:98673
HP:0100022	Abnormality of movement	4728	NDUFS8	OMIM:618222
HP:0100022	Abnormality of movement	126129	CPT1C	OMIM:616282
HP:0100022	Abnormality of movement	126129	CPT1C	ORPHA:444099
HP:0100022	Abnormality of movement	23516	SLC39A14	OMIM:617013
HP:0100022	Abnormality of movement	23345	SYNE1	ORPHA:88644
HP:0100022	Abnormality of movement	23345	SYNE1	ORPHA:98853
HP:0100022	Abnormality of movement	1410	CRYAB	ORPHA:399058
HP:0100022	Abnormality of movement	4508	MT-ATP6	ORPHA:320360
HP:0100022	Abnormality of movement	4508	MT-ATP6	ORPHA:225154
HP:0100022	Abnormality of movement	7415	VCP	OMIM:167320
HP:0100022	Abnormality of movement	7415	VCP	ORPHA:435387
HP:0100022	Abnormality of movement	7415	VCP	OMIM:613954
HP:0100022	Abnormality of movement	7415	VCP	ORPHA:275864
HP:0100022	Abnormality of movement	7415	VCP	ORPHA:329478
HP:0100022	Abnormality of movement	7415	VCP	ORPHA:329475
HP:0100022	Abnormality of movement	4703	NEB	OMIM:256030
HP:0100022	Abnormality of movement	4703	NEB	ORPHA:171436
HP:0100022	Abnormality of movement	4703	NEB	ORPHA:171433
HP:0100022	Abnormality of movement	4703	NEB	ORPHA:171439
HP:0100022	Abnormality of movement	3208	HPCA	ORPHA:99657
HP:0100022	Abnormality of movement	170302	ARX	ORPHA:94083
HP:0100022	Abnormality of movement	2581	GALC	ORPHA:206443
HP:0100022	Abnormality of movement	2581	GALC	ORPHA:206448
HP:0100022	Abnormality of movement	10397	NDRG1	OMIM:601455
HP:0100022	Abnormality of movement	84909	AOPEP	OMIM:619565
HP:0100022	Abnormality of movement	518	ATP5MC3	OMIM:619681
HP:0100022	Abnormality of movement	8878	SQSTM1	OMIM:617145
HP:0100022	Abnormality of movement	8878	SQSTM1	ORPHA:275864
HP:0100022	Abnormality of movement	8878	SQSTM1	ORPHA:603
HP:0100022	Abnormality of movement	137682	NDUFAF6	OMIM:618239
HP:0100022	Abnormality of movement	427	ASAH1	OMIM:159950
HP:0100022	Abnormality of movement	427	ASAH1	ORPHA:2590
HP:0100022	Abnormality of movement	4976	OPA1	ORPHA:98673
HP:0100022	Abnormality of movement	4976	OPA1	OMIM:210000
HP:0100022	Abnormality of movement	4976	OPA1	OMIM:125250
HP:0100022	Abnormality of movement	5071	PRKN	OMIM:600116
HP:0100022	Abnormality of movement	65055	REEP1	ORPHA:101011
HP:0100022	Abnormality of movement	351	APP	ORPHA:324708
HP:0100022	Abnormality of movement	8925	HERC1	ORPHA:457359
HP:0100022	Abnormality of movement	7084	TK2	ORPHA:254875
HP:0100022	Abnormality of movement	28982	FLVCR1	ORPHA:88628
HP:0100022	Abnormality of movement	112939	NACC1	OMIM:617393
HP:0100022	Abnormality of movement	55572	FOXRED1	OMIM:618241
HP:0100022	Abnormality of movement	80224	NUBPL	OMIM:618242
HP:0100022	Abnormality of movement	7169	TPM2	OMIM:609285
HP:0100022	Abnormality of movement	7169	TPM2	ORPHA:171436
HP:0100022	Abnormality of movement	7169	TPM2	ORPHA:171439
HP:0100022	Abnormality of movement	54834	GDAP2	OMIM:618369
HP:0100022	Abnormality of movement	29920	PYCR2	ORPHA:481152
HP:0100022	Abnormality of movement	378884	NHLRC1	OMIM:620681
HP:0100022	Abnormality of movement	378884	NHLRC1	ORPHA:501
HP:0100022	Abnormality of movement	2632	GBE1	ORPHA:206583
HP:0100022	Abnormality of movement	2632	GBE1	OMIM:263570
HP:0100022	Abnormality of movement	112812	FDX2	OMIM:251900
HP:0100022	Abnormality of movement	51102	MECR	OMIM:617282
HP:0100022	Abnormality of movement	51102	MECR	ORPHA:508093
HP:0100022	Abnormality of movement	6261	RYR1	ORPHA:424107
HP:0100022	Abnormality of movement	6261	RYR1	ORPHA:169189
HP:0100022	Abnormality of movement	1280	COL2A1	OMIM:156550
HP:0100022	Abnormality of movement	51324	SPG21	ORPHA:101001
HP:0100022	Abnormality of movement	51324	SPG21	OMIM:248900
HP:0100022	Abnormality of movement	5903	RANBP2	ORPHA:88619
HP:0100022	Abnormality of movement	26175	LYSET	OMIM:619345
HP:0100022	Abnormality of movement	9757	KMT2B	OMIM:617284
HP:0100022	Abnormality of movement	2992	GYG1	OMIM:616199
HP:0100022	Abnormality of movement	3188	HNRNPH2	OMIM:300986
HP:0100022	Abnormality of movement	390594	KBTBD13	OMIM:609273
HP:0100022	Abnormality of movement	390594	KBTBD13	ORPHA:171439
HP:0100022	Abnormality of movement	2475	MTOR	ORPHA:457485
HP:0100022	Abnormality of movement	9256	TSPOAP1	OMIM:620456
HP:0100022	Abnormality of movement	57187	THOC2	ORPHA:457240
HP:0100022	Abnormality of movement	57187	THOC2	OMIM:300957
HP:0100022	Abnormality of movement	4548	MTR	OMIM:250940
HP:0100022	Abnormality of movement	29967	LRP12	OMIM:620452
HP:0100022	Abnormality of movement	29967	LRP12	ORPHA:98897
HP:0100022	Abnormality of movement	29967	LRP12	OMIM:164310
HP:0100022	Abnormality of movement	1756	DMD	ORPHA:98895
HP:0100022	Abnormality of movement	79736	TEFM	OMIM:620451
HP:0100022	Abnormality of movement	353116	RILPL1	ORPHA:98897
HP:0100022	Abnormality of movement	10755	GIPC1	ORPHA:98897
HP:0100022	Abnormality of movement	23316	CUX2	OMIM:618141
HP:0100022	Abnormality of movement	94005	PIGS	OMIM:618143
HP:0100022	Abnormality of movement	26580	BSCL2	OMIM:619112
HP:0100022	Abnormality of movement	2318	FLNC	ORPHA:63273
HP:0100022	Abnormality of movement	2318	FLNC	ORPHA:171445
HP:0100022	Abnormality of movement	4762	NEUROG1	OMIM:620469
HP:0100022	Abnormality of movement	7957	EPM2A	ORPHA:501
HP:0100022	Abnormality of movement	7957	EPM2A	OMIM:254780
HP:0100022	Abnormality of movement	6872	TAF1	ORPHA:53351
HP:0100022	Abnormality of movement	6872	TAF1	OMIM:300966
HP:0100022	Abnormality of movement	1605	DAG1	OMIM:613818
HP:0100022	Abnormality of movement	283446	MYO1H	OMIM:619482
HP:0100022	Abnormality of movement	5375	PMP2	OMIM:618279
HP:0100022	Abnormality of movement	79152	FA2H	ORPHA:171629
HP:0100022	Abnormality of movement	79152	FA2H	OMIM:612319
HP:0100022	Abnormality of movement	57704	GBA2	ORPHA:320391
HP:0100022	Abnormality of movement	3710	ITPR3	OMIM:620111
HP:0100022	Abnormality of movement	2799	GNS	OMIM:252940
HP:0100022	Abnormality of movement	1303	COL12A1	ORPHA:610
HP:0100022	Abnormality of movement	1291	COL6A1	ORPHA:610
HP:0100022	Abnormality of movement	1292	COL6A2	ORPHA:610
HP:0100022	Abnormality of movement	1293	COL6A3	ORPHA:610
HP:0100022	Abnormality of movement	1200	TPP1	ORPHA:284324
HP:0100022	Abnormality of movement	26137	ZBTB20	ORPHA:3042
HP:0100022	Abnormality of movement	5317	PKP1	ORPHA:158668
HP:0100022	Abnormality of movement	23636	NUP62	ORPHA:225154
HP:0100022	Abnormality of movement	53371	NUP54	ORPHA:225154
HP:0100022	Abnormality of movement	103	ADAR	ORPHA:225154
HP:0100022	Abnormality of movement	103	ADAR	ORPHA:51
HP:0100022	Abnormality of movement	6389	SDHA	OMIM:619259
HP:0100022	Abnormality of movement	89970	RSPRY1	ORPHA:457395
HP:0100022	Abnormality of movement	2521	FUS	OMIM:608030
HP:0100022	Abnormality of movement	2521	FUS	ORPHA:300605
HP:0100022	Abnormality of movement	2733	GLE1	OMIM:611890
HP:0100022	Abnormality of movement	10273	STUB1	ORPHA:412057
HP:0100022	Abnormality of movement	727676	SNORD118	ORPHA:542310
HP:0100022	Abnormality of movement	727676	SNORD118	OMIM:614561
HP:0100022	Abnormality of movement	60386	SLC25A19	OMIM:613710
HP:0100022	Abnormality of movement	84466	MEGF10	OMIM:620249
HP:0100022	Abnormality of movement	23259	DDHD2	ORPHA:320380
HP:0100022	Abnormality of movement	1073	CFL2	OMIM:610687
HP:0100022	Abnormality of movement	1073	CFL2	ORPHA:171436
HP:0100022	Abnormality of movement	8139	GAN	ORPHA:643
HP:0100022	Abnormality of movement	4914	NTRK1	ORPHA:642
HP:0100022	Abnormality of movement	80217	CFAP43	OMIM:236690
HP:0100022	Abnormality of movement	3839	KPNA3	ORPHA:171612
HP:0100022	Abnormality of movement	9927	MFN2	OMIM:617087
HP:0100022	Abnormality of movement	9927	MFN2	ORPHA:2398
HP:0100022	Abnormality of movement	125170	MIEF2	OMIM:619024
HP:0100022	Abnormality of movement	2896	GRN	ORPHA:275864
HP:0100022	Abnormality of movement	54664	TMEM106B	ORPHA:275864
HP:0100022	Abnormality of movement	6622	SNCA	OMIM:168601
HP:0100022	Abnormality of movement	10299	MARCHF6	OMIM:613608
HP:0100022	Abnormality of movement	60481	ELOVL5	ORPHA:423296
HP:0100022	Abnormality of movement	25792	CIZ1	ORPHA:420492
HP:0100022	Abnormality of movement	7421	VDR	ORPHA:93160
HP:0100022	Abnormality of movement	7421	VDR	OMIM:277440
HP:0100022	Abnormality of movement	23769	FLRT1	ORPHA:320406
HP:0100022	Abnormality of movement	64837	KLC2	ORPHA:320406
HP:0100022	Abnormality of movement	6535	SLC6A8	OMIM:300352
HP:0100022	Abnormality of movement	57165	GJC2	ORPHA:320401
HP:0100022	Abnormality of movement	8838	CCN6	OMIM:208230
HP:0100022	Abnormality of movement	55532	SLC30A10	ORPHA:309854
HP:0100022	Abnormality of movement	80821	DDHD1	OMIM:609340
HP:0100022	Abnormality of movement	1593	CYP27A1	OMIM:213700
HP:0100022	Abnormality of movement	1593	CYP27A1	ORPHA:909
HP:0100022	Abnormality of movement	4747	NEFL	ORPHA:99939
HP:0100022	Abnormality of movement	4747	NEFL	OMIM:607684
HP:0100022	Abnormality of movement	4747	NEFL	OMIM:617882
HP:0100022	Abnormality of movement	7138	TNNT1	OMIM:620389
HP:0100022	Abnormality of movement	200205	IBA57	ORPHA:468661
HP:0100022	Abnormality of movement	58	ACTA1	ORPHA:171436
HP:0100022	Abnormality of movement	58	ACTA1	ORPHA:171433
HP:0100022	Abnormality of movement	58	ACTA1	ORPHA:171439
HP:0100022	Abnormality of movement	10324	KLHL41	ORPHA:171436
HP:0100022	Abnormality of movement	10324	KLHL41	ORPHA:171433
HP:0100022	Abnormality of movement	10324	KLHL41	ORPHA:171439
HP:0100022	Abnormality of movement	56203	LMOD3	ORPHA:171436
HP:0100022	Abnormality of movement	7170	TPM3	ORPHA:171433
HP:0100022	Abnormality of movement	7170	TPM3	ORPHA:171439
HP:0100022	Abnormality of movement	2314	FLII	ORPHA:819
HP:0100022	Abnormality of movement	23096	IQSEC2	ORPHA:819
HP:0100022	Abnormality of movement	10743	RAI1	ORPHA:819
HP:0100022	Abnormality of movement	10522	DEAF1	ORPHA:819
HP:0100022	Abnormality of movement	10522	DEAF1	OMIM:615828
HP:0100022	Abnormality of movement	2673	GFPT1	ORPHA:353327
HP:0100022	Abnormality of movement	1798	DPAGT1	ORPHA:353327
HP:0100022	Abnormality of movement	85365	ALG2	ORPHA:353327
HP:0100022	Abnormality of movement	84992	PIGY	ORPHA:247262
HP:0100022	Abnormality of movement	84720	PIGO	ORPHA:247262
HP:0100022	Abnormality of movement	93210	PGAP3	ORPHA:247262
HP:0100022	Abnormality of movement	284098	PIGW	ORPHA:247262
HP:0100022	Abnormality of movement	27315	PGAP2	ORPHA:247262
HP:0100022	Abnormality of movement	55650	PIGV	ORPHA:247262
HP:0100022	Abnormality of movement	9487	PIGL	ORPHA:247262
HP:0100022	Abnormality of movement	84876	ORAI1	OMIM:612782
HP:0100022	Abnormality of movement	55157	DARS2	ORPHA:137898
HP:0100022	Abnormality of movement	6575	SLC20A2	OMIM:213600
HP:0100022	Abnormality of movement	5159	PDGFRB	OMIM:213600
HP:0100022	Abnormality of movement	5155	PDGFB	OMIM:213600
HP:0100022	Abnormality of movement	5155	PDGFB	ORPHA:2495
HP:0100022	Abnormality of movement	7072	TIA1	ORPHA:603
HP:0100022	Abnormality of movement	8398	PLA2G6	ORPHA:35069
HP:0100022	Abnormality of movement	9782	MATR3	ORPHA:600
HP:0100022	Abnormality of movement	10558	SPTLC1	OMIM:620285
HP:0100022	Abnormality of movement	10558	SPTLC1	ORPHA:300605
HP:0100022	Abnormality of movement	2332	FMR1	ORPHA:93256
HP:0100022	Abnormality of movement	823	CAPN1	OMIM:616907
HP:0100022	Abnormality of movement	7274	TTPA	ORPHA:96
HP:0100022	Abnormality of movement	7274	TTPA	OMIM:277460
HP:0100022	Abnormality of movement	57531	HACE1	ORPHA:464282
HP:0100022	Abnormality of movement	10367	MICU1	ORPHA:401768
HP:0100022	Abnormality of movement	10367	MICU1	OMIM:615673
HP:0100022	Abnormality of movement	6687	SPG7	OMIM:607259
HP:0100022	Abnormality of movement	80856	LNPK	OMIM:618090
HP:0100022	Abnormality of movement	26278	SACS	ORPHA:98
HP:0100022	Abnormality of movement	8557	TCAP	OMIM:601954
HP:0100022	Abnormality of movement	65998	ZFTA	ORPHA:251636
HP:0100022	Abnormality of movement	9896	FIG4	OMIM:611228
HP:0100022	Abnormality of movement	5255	PHKA1	ORPHA:715
HP:0100022	Abnormality of movement	5260	PHKG1	ORPHA:715
HP:0100022	Abnormality of movement	4359	MPZ	ORPHA:3115
HP:0100022	Abnormality of movement	3752	KCND3	ORPHA:98772
HP:0100022	Abnormality of movement	23299	BICD2	ORPHA:363454
HP:0100022	Abnormality of movement	84138	SLC7A6OS	OMIM:619191
HP:0100022	Abnormality of movement	8905	AP1S2	ORPHA:85335
HP:0100022	Abnormality of movement	8905	AP1S2	ORPHA:85329
HP:0100022	Abnormality of movement	54840	APTX	ORPHA:1168
HP:0100022	Abnormality of movement	8239	USP9X	ORPHA:480880
HP:0100022	Abnormality of movement	540	ATP7B	ORPHA:905
HP:0100022	Abnormality of movement	6804	STX1A	ORPHA:904
HP:0100022	Abnormality of movement	7461	CLIP2	ORPHA:904
HP:0100022	Abnormality of movement	84277	DNAJC30	ORPHA:904
HP:0100022	Abnormality of movement	8468	FKBP6	ORPHA:904
HP:0100022	Abnormality of movement	5982	RFC2	ORPHA:904
HP:0100022	Abnormality of movement	2969	GTF2I	ORPHA:904
HP:0100022	Abnormality of movement	3984	LIMK1	ORPHA:904
HP:0100022	Abnormality of movement	9569	GTF2IRD1	ORPHA:904
HP:0100022	Abnormality of movement	155382	VPS37D	ORPHA:904
HP:0100022	Abnormality of movement	155368	METTL27	ORPHA:904
HP:0100022	Abnormality of movement	114049	BUD23	ORPHA:904
HP:0100022	Abnormality of movement	7458	EIF4H	ORPHA:904
HP:0100022	Abnormality of movement	84163	GTF2IRD2	ORPHA:904
HP:0100022	Abnormality of movement	26608	TBL2	ORPHA:904
HP:0100022	Abnormality of movement	653361	NCF1	ORPHA:904
HP:0100022	Abnormality of movement	135886	TMEM270	ORPHA:904
HP:0100022	Abnormality of movement	9031	BAZ1B	ORPHA:904
HP:0100022	Abnormality of movement	2006	ELN	ORPHA:904
HP:0100022	Abnormality of movement	8314	BAP1	ORPHA:2495
HP:0100022	Abnormality of movement	4771	NF2	ORPHA:2495
HP:0100022	Abnormality of movement	6598	SMARCB1	ORPHA:2495
HP:0100022	Abnormality of movement	84231	TRAF7	ORPHA:2495
HP:0100022	Abnormality of movement	6608	SMO	ORPHA:2495
HP:0100022	Abnormality of movement	207	AKT1	ORPHA:2495
HP:0100022	Abnormality of movement	7015	TERT	ORPHA:2495
HP:0100022	Abnormality of movement	6605	SMARCE1	ORPHA:2495
HP:0100022	Abnormality of movement	90624	LYRM7	OMIM:615838
HP:0100022	Abnormality of movement	146057	TTBK2	ORPHA:98767
HP:0100022	Abnormality of movement	3748	KCNC3	ORPHA:98768
HP:0100022	Abnormality of movement	54499	TMCO1	OMIM:213980
HP:0100022	Abnormality of movement	2259	FGF14	ORPHA:98764
HP:0100022	Abnormality of movement	80025	PANK2	OMIM:234200
HP:0100022	Abnormality of movement	80025	PANK2	ORPHA:216873
HP:0100022	Abnormality of movement	80025	PANK2	ORPHA:216866
HP:0100022	Abnormality of movement	25894	PLEKHG4	ORPHA:98765
HP:0100022	Abnormality of movement	6712	SPTBN2	ORPHA:98766
HP:0100022	Abnormality of movement	10613	ERLIN1	ORPHA:401785
HP:0100022	Abnormality of movement	10613	ERLIN1	OMIM:615681
HP:0100022	Abnormality of movement	5521	PPP2R2B	ORPHA:98762
HP:0100022	Abnormality of movement	10280	SIGMAR1	ORPHA:300605
HP:0100022	Abnormality of movement	255928	SYT14	ORPHA:284271
HP:0100022	Abnormality of movement	255928	SYT14	OMIM:614229
HP:0100022	Abnormality of movement	5165	PDK3	ORPHA:352675
HP:0100022	Abnormality of movement	11149	POPDC1	OMIM:616812
HP:0100022	Abnormality of movement	84033	OBSCN	ORPHA:99845
HP:0100022	Abnormality of movement	23175	LPIN1	ORPHA:99845
HP:0100022	Abnormality of movement	8106	PABPN1	OMIM:164300
HP:0100022	Abnormality of movement	8565	YARS1	OMIM:608323
HP:0100022	Abnormality of movement	23204	ARL6IP1	ORPHA:401780
HP:0100022	Abnormality of movement	6310	ATXN1	ORPHA:98755
HP:0100022	Abnormality of movement	8573	CASK	ORPHA:163937
HP:0100022	Abnormality of movement	3300	DNAJB2	OMIM:614881
HP:0100022	Abnormality of movement	84665	MYPN	ORPHA:171439
HP:0100022	Abnormality of movement	57465	TBC1D24	ORPHA:352582
HP:0100022	Abnormality of movement	2273	FHL1	ORPHA:98863
HP:0100022	Abnormality of movement	2273	FHL1	OMIM:300280
HP:0100022	Abnormality of movement	2010	EMD	ORPHA:98863
HP:0100022	Abnormality of movement	79158	GNPTAB	ORPHA:423461
HP:0100022	Abnormality of movement	23479	ISCU	OMIM:255125
HP:0100022	Abnormality of movement	3098	HK1	ORPHA:99953
HP:0100022	Abnormality of movement	3098	HK1	OMIM:605285
HP:0100022	Abnormality of movement	4313	MMP2	OMIM:259600
HP:0100022	Abnormality of movement	60681	FKBP10	ORPHA:1149
HP:0100022	Abnormality of movement	6253	RTN2	ORPHA:100993
HP:0100022	Abnormality of movement	55023	PHIP	ORPHA:589905
HP:0100022	Abnormality of movement	23503	ZFYVE26	ORPHA:100996
HP:0100022	Abnormality of movement	57716	PRX	OMIM:614895
HP:0100022	Abnormality of movement	51142	CHCHD2	OMIM:616710
HP:0100022	Abnormality of movement	2316	FLNA	OMIM:309350
HP:0100022	Abnormality of movement	3897	L1CAM	ORPHA:2466
HP:0100022	Abnormality of movement	137492	VPS37A	OMIM:614898
HP:0100022	Abnormality of movement	54332	GDAP1	ORPHA:99944
HP:0100022	Abnormality of movement	9230	RAB11B	OMIM:617807
HP:0100022	Abnormality of movement	10535	RNASEH2A	ORPHA:51
HP:0100022	Abnormality of movement	84153	RNASEH2C	ORPHA:51
HP:0100022	Abnormality of movement	25939	SAMHD1	ORPHA:51
HP:0100022	Abnormality of movement	79621	RNASEH2B	ORPHA:51
HP:0100022	Abnormality of movement	11277	TREX1	ORPHA:51
HP:0100022	Abnormality of movement	100147744	RNU7-1	ORPHA:51
HP:0100022	Abnormality of movement	134353	LSM11	ORPHA:51
HP:0100022	Abnormality of movement	64135	IFIH1	ORPHA:51
HP:0100022	Abnormality of movement	219285	SAMD9L	ORPHA:2585
HP:0100022	Abnormality of movement	3720	JARID2	OMIM:620098
HP:0100022	Abnormality of movement	79188	TMEM43	ORPHA:98853
HP:0100022	Abnormality of movement	23224	SYNE2	ORPHA:98853
HP:0100022	Abnormality of movement	8729	GBF1	OMIM:606483
HP:0100022	Abnormality of movement	51062	ATL1	ORPHA:100984
HP:0100022	Abnormality of movement	9897	WASHC5	ORPHA:100989
HP:0100022	Abnormality of movement	579	NKX3-2	OMIM:613330
HP:0100022	Abnormality of movement	123606	NIPA1	ORPHA:100988
HP:0100022	Abnormality of movement	4038	LRP4	OMIM:614305
HP:0100022	Abnormality of movement	4038	LRP4	OMIM:616304
HP:0100022	Abnormality of movement	6571	SLC18A2	ORPHA:352649
HP:0100022	Abnormality of movement	274	BIN1	ORPHA:169189
HP:0100022	Abnormality of movement	64419	MTMR14	ORPHA:169189
HP:0100022	Abnormality of movement	4618	MYF6	ORPHA:169189
HP:0100022	Abnormality of movement	1785	DNM2	ORPHA:169189
HP:0100022	Abnormality of movement	59341	TRPV4	ORPHA:93314
HP:0100022	Abnormality of movement	4148	MATN3	ORPHA:93311
HP:0100022	Abnormality of movement	80207	OPA3	ORPHA:67047
HP:0100022	Abnormality of movement	125988	MICOS13	ORPHA:67047
HP:0100022	Abnormality of movement	113179	ADAT3	ORPHA:363528
HP:0100022	Abnormality of movement	6652	SORD	OMIM:618912
HP:0100022	Abnormality of movement	80347	COASY	OMIM:615643
HP:0100022	Abnormality of movement	80347	COASY	ORPHA:397725
HP:0100022	Abnormality of movement	3035	HARS1	ORPHA:488333
HP:0100022	Abnormality of movement	3035	HARS1	OMIM:616625
HP:0100022	Abnormality of movement	1311	COMP	ORPHA:93308
HP:0100022	Abnormality of movement	51218	GLRX5	OMIM:616859
HP:0100022	Abnormality of movement	3920	LAMP2	ORPHA:34587
HP:0100022	Abnormality of movement	84679	SLC9A7	OMIM:301024
HP:0100022	Abnormality of movement	2592	GALT	ORPHA:79239
HP:0100022	Abnormality of movement	2895	GRID2	ORPHA:363432
HP:0100022	Abnormality of movement	3315	HSPB1	OMIM:608634
HP:0100022	Abnormality of movement	23732	FRRS1L	OMIM:616981
HP:0100022	Abnormality of movement	10908	PNPLA6	OMIM:612020
HP:0100022	Abnormality of movement	1778	DYNC1H1	OMIM:614563
HP:0100022	Abnormality of movement	1737	DLAT	ORPHA:79244
HP:0100022	Abnormality of movement	57599	WDR48	ORPHA:401800
HP:0100022	Abnormality of movement	7453	WARS1	OMIM:617721
HP:0100022	Abnormality of movement	57545	CC2D2A	ORPHA:1454
HP:0100022	Abnormality of movement	57449	PLEKHG5	OMIM:611067
HP:0100022	Abnormality of movement	128989	TANGO2	OMIM:616878
HP:0100022	Abnormality of movement	27010	TPK1	OMIM:614458
HP:0100022	Abnormality of movement	81790	RNF170	OMIM:608984
HP:0100022	Abnormality of movement	953	ENTPD1	ORPHA:401810
HP:0100022	Abnormality of movement	953	ENTPD1	OMIM:615683
HP:0100022	Abnormality of movement	6197	RPS6KA3	ORPHA:192
HP:0100022	Abnormality of movement	7874	USP7	ORPHA:500055
HP:0100022	Abnormality of movement	340075	ARSI	ORPHA:401815
HP:0100022	Abnormality of movement	8988	HSPB3	OMIM:613376
HP:0100022	Abnormality of movement	22948	CCT5	ORPHA:139578
HP:0100022	Abnormality of movement	2548	GAA	OMIM:232300
HP:0100022	Abnormality of movement	10382	TUBB4A	ORPHA:98805
HP:0100022	Abnormality of movement	9935	MAFB	ORPHA:2774
HP:0100022	Abnormality of movement	92335	STRADA	OMIM:611087
HP:0100022	Abnormality of movement	271	AMPD2	OMIM:615686
HP:0100022	Abnormality of movement	4649	MYO9A	ORPHA:98914
HP:0100022	Abnormality of movement	1305	COL13A1	ORPHA:98914
HP:0100022	Abnormality of movement	1103	CHAT	ORPHA:98914
HP:0100022	Abnormality of movement	6576	SLC25A1	ORPHA:98914
HP:0100022	Abnormality of movement	375790	AGRN	ORPHA:98914
HP:0100022	Abnormality of movement	127833	SYT2	ORPHA:98914
HP:0100022	Abnormality of movement	10342	TFG	OMIM:604484
HP:0100022	Abnormality of movement	9499	MYOT	ORPHA:98911
HP:0100022	Abnormality of movement	11155	LDB3	ORPHA:98912
HP:0100022	Abnormality of movement	10717	AP4B1	ORPHA:280763
HP:0100022	Abnormality of movement	9179	AP4M1	ORPHA:280763
HP:0100022	Abnormality of movement	11154	AP4S1	ORPHA:280763
HP:0100022	Abnormality of movement	23431	AP4E1	ORPHA:280763
HP:0100022	Abnormality of movement	210	ALAD	ORPHA:100924
HP:0100022	Abnormality of movement	7518	XRCC4	OMIM:616541
HP:0100022	Abnormality of movement	8575	PRKRA	OMIM:612067
HP:0100022	Abnormality of movement	51099	ABHD5	ORPHA:98907
HP:0100022	Abnormality of movement	81545	FBXO38	OMIM:615575
HP:0100022	Abnormality of movement	1674	DES	ORPHA:98909
HP:0100022	Abnormality of movement	9439	MED23	OMIM:614249
HP:0100022	Abnormality of movement	9451	EIF2AK3	ORPHA:1667
HP:0100022	Abnormality of movement	79583	TMEM231	ORPHA:2754
HP:0100022	Abnormality of movement	10210	TOPORS	ORPHA:2754
HP:0100022	Abnormality of movement	51259	TMEM216	ORPHA:2754
HP:0100022	Abnormality of movement	317662	FAM149B1	ORPHA:2754
HP:0100022	Abnormality of movement	374654	KIF7	ORPHA:2754
HP:0100022	Abnormality of movement	84706	GPT2	ORPHA:477673
HP:0100022	Abnormality of movement	1968	EIF2S3	OMIM:300148
HP:0100022	Abnormality of movement	51763	INPP5K	OMIM:617404
HP:0100022	Abnormality of movement	9570	GOSR2	OMIM:614018
HP:0100022	Abnormality of movement	4322	MMP13	ORPHA:2501
HP:0100022	Abnormality of movement	267010	RNU12	ORPHA:512260
HP:0100022	Abnormality of movement	11340	EXOSC8	OMIM:616081
HP:0100022	Abnormality of movement	11340	EXOSC8	ORPHA:2254
HP:0100022	Abnormality of movement	51010	EXOSC3	ORPHA:2254
HP:0100022	Abnormality of movement	51010	EXOSC3	OMIM:614678
HP:0100022	Abnormality of movement	6607	SMN2	OMIM:253400
HP:0100022	Abnormality of movement	23250	ATP11A	OMIM:619851
HP:0100022	Abnormality of movement	7317	UBA1	ORPHA:1145
HP:0100022	Abnormality of movement	7317	UBA1	OMIM:301830
HP:0100022	Abnormality of movement	64856	VWA1	OMIM:619216
HP:0100022	Abnormality of movement	54936	ADPRS	OMIM:618170
HP:0100022	Abnormality of movement	51305	KCNK9	ORPHA:166108
HP:0100022	Abnormality of movement	1374	CPT1A	ORPHA:156
HP:0100022	Abnormality of movement	3265	HRAS	ORPHA:2612
HP:0100022	Abnormality of movement	4893	NRAS	ORPHA:2612
HP:0100022	Abnormality of movement	2671	GFER	ORPHA:330054
HP:0100022	Abnormality of movement	4591	TRIM37	ORPHA:2576
HP:0100022	Abnormality of movement	81839	VANGL1	ORPHA:3027
HP:0100022	Abnormality of movement	80199	FUZ	ORPHA:3027
HP:0100022	Abnormality of movement	112	ADCY6	ORPHA:2680
HP:0100022	Abnormality of movement	163175	LGI4	ORPHA:2680
HP:0100022	Abnormality of movement	6023	RMRP	ORPHA:175
HP:0100022	Abnormality of movement	10008	KCNE3	ORPHA:681
HP:0100022	Abnormality of movement	3679	ITGA7	ORPHA:2020
HP:0100022	Abnormality of movement	51128	SAR1B	OMIM:246700
HP:0100022	Abnormality of movement	1621	DBH	ORPHA:230
HP:0100022	Abnormality of movement	338	APOB	OMIM:615558
HP:0100022	Abnormality of movement	5162	PDHB	ORPHA:255138
HP:0100022	Abnormality of movement	1140	CHRNB1	ORPHA:98913
HP:0100022	Abnormality of movement	1145	CHRNE	ORPHA:98913
HP:0100022	Abnormality of movement	221264	AK9	ORPHA:98913
HP:0100022	Abnormality of movement	34	ACADM	ORPHA:42
HP:0100022	Abnormality of movement	5696	PSMB8	OMIM:256040
HP:0100022	Abnormality of movement	3156	HMGCR	OMIM:620375
HP:0100022	Abnormality of movement	7507	XPA	ORPHA:910
HP:0100022	Abnormality of movement	7508	XPC	ORPHA:910
HP:0100022	Abnormality of movement	1643	DDB2	ORPHA:910
HP:0100022	Abnormality of movement	7528	YY1	ORPHA:506358
HP:0100022	Abnormality of movement	7528	YY1	OMIM:617557
HP:0100022	Abnormality of movement	875	CBS	ORPHA:394
HP:0100022	Abnormality of movement	4287	ATXN3	OMIM:109150
HP:0100022	Abnormality of movement	4287	ATXN3	OMIM:168600
HP:0100022	Abnormality of movement	4287	ATXN3	ORPHA:276238
HP:0100022	Abnormality of movement	4287	ATXN3	ORPHA:276244
HP:0100022	Abnormality of movement	4287	ATXN3	ORPHA:276241
HP:0100022	Abnormality of movement	55703	POLR3B	OMIM:614381
HP:0100022	Abnormality of movement	55703	POLR3B	OMIM:607694
HP:0100022	Abnormality of movement	26235	FBXL4	OMIM:615471
HP:0100022	Abnormality of movement	8367	H4C5	OMIM:619950
HP:0100022	Abnormality of movement	2775	GNAO1	OMIM:615473
HP:0100022	Abnormality of movement	2775	GNAO1	ORPHA:1934
HP:0100022	Abnormality of movement	2775	GNAO1	OMIM:617493
HP:0100022	Abnormality of movement	51569	UFM1	OMIM:617899
HP:0100022	Abnormality of movement	23446	SLC44A1	OMIM:618868
HP:0100022	Abnormality of movement	9231	DLG5	OMIM:620703
HP:0100022	Abnormality of movement	11284	PNKP	ORPHA:459033
HP:0100022	Abnormality of movement	11284	PNKP	OMIM:616267
HP:0100022	Abnormality of movement	11284	PNKP	ORPHA:1934
HP:0100022	Abnormality of movement	84942	WDR73	OMIM:251300
HP:0100022	Abnormality of movement	4536	MT-ND2	ORPHA:255210
HP:0100022	Abnormality of movement	4536	MT-ND2	OMIM:535000
HP:0100022	Abnormality of movement	4537	MT-ND3	ORPHA:255210
HP:0100022	Abnormality of movement	4577	MT-TV	ORPHA:255210
HP:0100022	Abnormality of movement	65993	MRPS34	OMIM:617664
HP:0100022	Abnormality of movement	1644	DDC	ORPHA:35708
HP:0100022	Abnormality of movement	56997	COQ8A	ORPHA:139485
HP:0100022	Abnormality of movement	387787	LIPT2	OMIM:617668
HP:0100022	Abnormality of movement	57156	TMEM63C	OMIM:619966
HP:0100022	Abnormality of movement	3781	KCNN2	OMIM:619724
HP:0100022	Abnormality of movement	3781	KCNN2	OMIM:619725
HP:0100022	Abnormality of movement	51112	TRAPPC12	OMIM:617669
HP:0100022	Abnormality of movement	51112	TRAPPC12	ORPHA:500144
HP:0100022	Abnormality of movement	2192	FBLN1	ORPHA:404451
HP:0100022	Abnormality of movement	7343	UBTF	OMIM:617672
HP:0100022	Abnormality of movement	7343	UBTF	ORPHA:500180
HP:0100022	Abnormality of movement	6844	VAMP2	OMIM:618760
HP:0100022	Abnormality of movement	79029	AFG2B	OMIM:619616
HP:0100022	Abnormality of movement	10381	TUBB3	ORPHA:300570
HP:0100022	Abnormality of movement	7994	KAT6A	ORPHA:457193
HP:0100022	Abnormality of movement	7994	KAT6A	OMIM:616268
HP:0100022	Abnormality of movement	170825	GSX2	OMIM:618646
HP:0100022	Abnormality of movement	8560	DEGS1	OMIM:618404
HP:0100022	Abnormality of movement	10939	AFG3L2	ORPHA:313772
HP:0100022	Abnormality of movement	10939	AFG3L2	ORPHA:101109
HP:0100022	Abnormality of movement	10939	AFG3L2	OMIM:610246
HP:0100022	Abnormality of movement	10939	AFG3L2	OMIM:614487
HP:0100022	Abnormality of movement	23312	DMXL2	OMIM:616113
HP:0100022	Abnormality of movement	23312	DMXL2	ORPHA:453533
HP:0100022	Abnormality of movement	23312	DMXL2	ORPHA:1934
HP:0100022	Abnormality of movement	833	CARS1	OMIM:618891
HP:0100022	Abnormality of movement	5813	PURA	ORPHA:438216
HP:0100022	Abnormality of movement	54832	VPS13C	ORPHA:2828
HP:0100022	Abnormality of movement	11315	PARK7	ORPHA:2828
HP:0100022	Abnormality of movement	7345	UCHL1	ORPHA:2828
HP:0100022	Abnormality of movement	27429	HTRA2	ORPHA:2828
HP:0100022	Abnormality of movement	27429	HTRA2	OMIM:617248
HP:0100022	Abnormality of movement	120892	LRRK2	ORPHA:2828
HP:0100022	Abnormality of movement	120892	LRRK2	ORPHA:411602
HP:0100022	Abnormality of movement	65018	PINK1	ORPHA:2828
HP:0100022	Abnormality of movement	65018	PINK1	OMIM:605909
HP:0100022	Abnormality of movement	284439	SLC25A42	OMIM:618416
HP:0100022	Abnormality of movement	113612	CYP2U1	OMIM:615030
HP:0100022	Abnormality of movement	113612	CYP2U1	ORPHA:320411
HP:0100022	Abnormality of movement	27089	UQCRQ	OMIM:615159
HP:0100022	Abnormality of movement	55280	CWF19L1	OMIM:616127
HP:0100022	Abnormality of movement	55280	CWF19L1	ORPHA:453521
HP:0100022	Abnormality of movement	54902	TTC19	OMIM:615157
HP:0100022	Abnormality of movement	7701	ZNF142	OMIM:618425
HP:0100022	Abnormality of movement	2643	GCH1	OMIM:233910
HP:0100022	Abnormality of movement	2643	GCH1	OMIM:128230
HP:0100022	Abnormality of movement	4191	MDH2	OMIM:617339
HP:0100022	Abnormality of movement	150468	CKAP2L	OMIM:272440
HP:0100022	Abnormality of movement	54828	BCAS3	OMIM:619641
HP:0100022	Abnormality of movement	79991	STN1	OMIM:617341
HP:0100022	Abnormality of movement	7358	UGDH	OMIM:618792
HP:0100022	Abnormality of movement	2904	GRIN2B	OMIM:616139
HP:0100022	Abnormality of movement	2904	GRIN2B	OMIM:613970
HP:0100022	Abnormality of movement	1356	CP	ORPHA:48818
HP:0100022	Abnormality of movement	57462	MYORG	OMIM:618317
HP:0100022	Abnormality of movement	7841	MOGS	ORPHA:79330
HP:0100022	Abnormality of movement	10667	FARS2	ORPHA:466722
HP:0100022	Abnormality of movement	55739	NAXD	OMIM:618321
HP:0100022	Abnormality of movement	7143	TNR	OMIM:619653
HP:0100022	Abnormality of movement	3785	KCNQ2	ORPHA:439218
HP:0100022	Abnormality of movement	3785	KCNQ2	OMIM:613720
HP:0100022	Abnormality of movement	10195	ALG3	ORPHA:79321
HP:0100022	Abnormality of movement	85300	ATCAY	OMIM:601238
HP:0100022	Abnormality of movement	6812	STXBP1	ORPHA:599373
HP:0100022	Abnormality of movement	25970	SH2B1	ORPHA:261197
HP:0100022	Abnormality of movement	10533	ATG7	OMIM:619422
HP:0100022	Abnormality of movement	51645	PPIL1	OMIM:619301
HP:0100022	Abnormality of movement	51362	CDC40	OMIM:619302
HP:0100022	Abnormality of movement	81570	CLPB	OMIM:616271
HP:0100022	Abnormality of movement	79734	KCTD17	OMIM:616398
HP:0100022	Abnormality of movement	79734	KCTD17	ORPHA:36899
HP:0100022	Abnormality of movement	1892	ECHS1	OMIM:616277
HP:0100022	Abnormality of movement	51117	COQ4	OMIM:616276
HP:0100022	Abnormality of movement	133686	NADK2	OMIM:616034
HP:0100022	Abnormality of movement	133686	NADK2	ORPHA:431361
HP:0100022	Abnormality of movement	3658	IREB2	OMIM:618451
HP:0100022	Abnormality of movement	171546	SPTSSA	OMIM:620416
HP:0100022	Abnormality of movement	171546	SPTSSA	OMIM:620417
HP:0100022	Abnormality of movement	6857	SYT1	OMIM:618218
HP:0100022	Abnormality of movement	6857	SYT1	ORPHA:522077
HP:0100022	Abnormality of movement	140679	SLC32A1	OMIM:620774
HP:0100022	Abnormality of movement	140679	SLC32A1	ORPHA:1934
HP:0100022	Abnormality of movement	4519	MT-CYB	OMIM:535000
HP:0100022	Abnormality of movement	4539	MT-ND4L	OMIM:535000
HP:0100022	Abnormality of movement	9091	PIGQ	ORPHA:1934
HP:0100022	Abnormality of movement	81603	TRIM8	ORPHA:1934
HP:0100022	Abnormality of movement	79751	SLC25A22	ORPHA:1934
HP:0100022	Abnormality of movement	150094	SIK1	ORPHA:1934
HP:0100022	Abnormality of movement	2917	GRM7	ORPHA:1934
HP:0100022	Abnormality of movement	6326	SCN2A	ORPHA:1934
HP:0100022	Abnormality of movement	6326	SCN2A	OMIM:618924
HP:0100022	Abnormality of movement	51227	PIGP	ORPHA:1934
HP:0100022	Abnormality of movement	6324	SCN1B	ORPHA:1934
HP:0100022	Abnormality of movement	4761	NEUROD2	ORPHA:1934
HP:0100022	Abnormality of movement	435	ASL	ORPHA:23
HP:0100022	Abnormality of movement	2639	GCDH	ORPHA:25
HP:0100022	Abnormality of movement	2639	GCDH	OMIM:231670
HP:0100022	Abnormality of movement	374291	NDUFS7	OMIM:618224
HP:0100022	Abnormality of movement	51728	POLR3K	OMIM:619310
HP:0100022	Abnormality of movement	2495	FTH1	OMIM:620669
HP:0100022	Abnormality of movement	4719	NDUFS1	OMIM:618226
HP:0100022	Abnormality of movement	2653	GCSH	OMIM:620423
HP:0100022	Abnormality of movement	79903	NAA60	OMIM:620786
HP:0100022	Abnormality of movement	4143	MAT1A	OMIM:250850
HP:0100022	Abnormality of movement	84320	ACBD6	OMIM:620785
HP:0100022	Abnormality of movement	10102	TSFM	OMIM:610505
HP:0100022	Abnormality of movement	26275	HIBCH	ORPHA:88639
HP:0100022	Abnormality of movement	26275	HIBCH	OMIM:250620
HP:0100022	Abnormality of movement	56521	DNAJC12	OMIM:617384
HP:0100022	Abnormality of movement	64801	ARV1	OMIM:617020
HP:0100022	Abnormality of movement	57520	HECW2	OMIM:617268
HP:0100022	Abnormality of movement	51601	LIPT1	OMIM:616299
HP:0100022	Abnormality of movement	4722	NDUFS3	OMIM:618230
HP:0100022	Abnormality of movement	29078	NDUFAF4	OMIM:618237
HP:0100022	Abnormality of movement	79133	NDUFAF5	OMIM:618238
HP:0100022	Abnormality of movement	25885	POLR1A	OMIM:620675
HP:0100022	Abnormality of movement	6904	TBCD	ORPHA:496641
HP:0100022	Abnormality of movement	55967	NDUFA12	OMIM:618244
HP:0100022	Abnormality of movement	23221	RHOBTB2	OMIM:618004
HP:0100022	Abnormality of movement	4704	NDUFA9	OMIM:618247
HP:0100022	Abnormality of movement	29978	UBQLN2	OMIM:300857
HP:0100022	Abnormality of movement	51704	GPRC5B	OMIM:620447
HP:0100022	Abnormality of movement	361	AQP4	OMIM:620448
HP:0100022	Abnormality of movement	549	AUH	OMIM:250950
HP:0100022	Abnormality of movement	549	AUH	ORPHA:67046
HP:0100022	Abnormality of movement	4864	NPC1	OMIM:257220
HP:0100022	Abnormality of movement	5805	PTS	ORPHA:13
HP:0100022	Abnormality of movement	5805	PTS	OMIM:261640
HP:0100022	Abnormality of movement	6390	SDHB	OMIM:619224
HP:0100022	Abnormality of movement	8802	SUCLG1	ORPHA:17
HP:0100022	Abnormality of movement	5277	PIGA	OMIM:300868
HP:0100022	Abnormality of movement	8635	RNASET2	OMIM:612951
HP:0100022	Abnormality of movement	6697	SPR	OMIM:612716
HP:0100022	Abnormality of movement	6697	SPR	ORPHA:70594
HP:0100022	Abnormality of movement	64864	RFX7	OMIM:620330
HP:0100022	Abnormality of movement	8943	AP3D1	OMIM:617050
HP:0100022	Abnormality of movement	55697	VAC14	OMIM:617054
HP:0100022	Abnormality of movement	4361	MRE11	ORPHA:251347
HP:0100022	Abnormality of movement	4361	MRE11	OMIM:604391
HP:0100022	Abnormality of movement	92935	MARS2	ORPHA:314603
HP:0100022	Abnormality of movement	92935	MARS2	OMIM:611390
HP:0100022	Abnormality of movement	10134	BCAP31	ORPHA:369942
HP:0100022	Abnormality of movement	10134	BCAP31	OMIM:300475
HP:0100022	Abnormality of movement	55210	ATAD3A	OMIM:617183
HP:0100022	Abnormality of movement	2571	GAD1	OMIM:619124
HP:0100022	Abnormality of movement	7504	XK	OMIM:300842
HP:0100022	Abnormality of movement	374354	NHLRC2	OMIM:618278
HP:0100022	Abnormality of movement	2760	GM2A	ORPHA:309246
HP:0100022	Abnormality of movement	2760	GM2A	OMIM:272750
HP:0100022	Abnormality of movement	23230	VPS13A	OMIM:200150
HP:0100022	Abnormality of movement	84340	GFM2	OMIM:618397
HP:0100022	Abnormality of movement	23287	AGTPBP1	OMIM:618276
HP:0100022	Abnormality of movement	9373	PLAA	ORPHA:521426
HP:0100022	Abnormality of movement	539	ATP5PO	OMIM:620359
HP:0100022	Abnormality of movement	498	ATP5F1A	OMIM:620358
HP:0100022	Abnormality of movement	498	ATP5F1A	ORPHA:254913
HP:0100022	Abnormality of movement	1893	ECM1	ORPHA:530
HP:0100022	Abnormality of movement	3739	KCNA4	OMIM:618284
HP:0100022	Abnormality of movement	777	CACNA1E	OMIM:618285
HP:0100022	Abnormality of movement	1315	COPB1	OMIM:619255
HP:0100022	Abnormality of movement	131118	DNAJC19	ORPHA:66634
HP:0100022	Abnormality of movement	256472	TMEM151A	OMIM:620245
HP:0100022	Abnormality of movement	10295	BCKDK	OMIM:614923
HP:0100022	Abnormality of movement	81615	TMEM163	OMIM:620243
HP:0100022	Abnormality of movement	124454	EARS2	OMIM:614924
HP:0100022	Abnormality of movement	1678	TIMM8A	ORPHA:52368
HP:0100022	Abnormality of movement	1678	TIMM8A	OMIM:304700
HP:0100022	Abnormality of movement	80704	SLC19A3	ORPHA:263410
HP:0100022	Abnormality of movement	80704	SLC19A3	OMIM:607483
HP:0100022	Abnormality of movement	5860	QDPR	OMIM:261630
HP:0100022	Abnormality of movement	25793	FBXO7	OMIM:260300
HP:0100022	Abnormality of movement	25793	FBXO7	ORPHA:171695
HP:0100022	Abnormality of movement	87178	PNPT1	OMIM:614932
HP:0100022	Abnormality of movement	126	ADH1C	OMIM:168600
HP:0100022	Abnormality of movement	4576	MT-TT	OMIM:168600
HP:0100022	Abnormality of movement	9627	SNCAIP	OMIM:168600
HP:0100022	Abnormality of movement	4929	NR4A2	OMIM:168600
HP:0100022	Abnormality of movement	4929	NR4A2	OMIM:619911
HP:0100022	Abnormality of movement	6311	ATXN2	OMIM:168600
HP:0100022	Abnormality of movement	6311	ATXN2	ORPHA:98756
HP:0100022	Abnormality of movement	6315	ATXN8OS	OMIM:168600
HP:0100022	Abnormality of movement	6315	ATXN8OS	ORPHA:98760
HP:0100022	Abnormality of movement	161742	SPRED1	ORPHA:137605
HP:0100022	Abnormality of movement	6342	SCP2	OMIM:613724
HP:0100022	Abnormality of movement	50640	PNPLA8	OMIM:251950
HP:0100022	Abnormality of movement	1639	DCTN1	OMIM:168605
HP:0100022	Abnormality of movement	90952	ESAM	OMIM:620371
HP:0100022	Abnormality of movement	5138	PDE2A	OMIM:619150
HP:0100022	Abnormality of movement	5138	PDE2A	ORPHA:31709
HP:0100022	Abnormality of movement	27183	VPS4A	OMIM:619273
HP:0100022	Abnormality of movement	26960	NBEA	OMIM:619157
HP:0100022	Abnormality of movement	1183	CLCN4	OMIM:300114
HP:0100022	Abnormality of movement	8506	CNTNAP1	OMIM:618186
HP:0100022	Abnormality of movement	25821	MTO1	OMIM:614702
HP:0100022	Abnormality of movement	8496	PPFIBP1	OMIM:620024
HP:0100022	Abnormality of movement	6531	SLC6A3	ORPHA:238455
HP:0100022	Abnormality of movement	6531	SLC6A3	OMIM:613135
HP:0100022	Abnormality of movement	9442	MED27	OMIM:619286
HP:0100022	Abnormality of movement	6392	SDHD	OMIM:619167
HP:0100022	Abnormality of movement	1135	CHRNA2	OMIM:610353
HP:0100022	Abnormality of movement	3735	KARS1	ORPHA:3240
HP:0100022	Abnormality of movement	3735	KARS1	OMIM:619196
HP:0100022	Abnormality of movement	64601	VPS16	OMIM:619291
HP:0100022	Abnormality of movement	4509	MT-ATP8	ORPHA:254913
HP:0100022	Abnormality of movement	514	ATP5F1E	ORPHA:254913
HP:0100022	Abnormality of movement	513	ATP5F1D	ORPHA:254913
HP:0100022	Abnormality of movement	84833	ATP5MK	ORPHA:254913
HP:0100022	Abnormality of movement	91647	ATPAF2	ORPHA:254913
HP:0100022	Abnormality of movement	8913	CACNA1G	OMIM:618087
HP:0100022	Abnormality of movement	64207	IRF2BPL	OMIM:618088
HP:0100022	Abnormality of movement	2903	GRIN2A	ORPHA:725
HP:0100022	Abnormality of movement	54675	CRLS1	OMIM:620167
HP:0100022	Abnormality of movement	5095	PCCA	OMIM:606054
HP:0100022	Abnormality of movement	5096	PCCB	OMIM:606054
HP:0100022	Abnormality of movement	4697	NDUFA4	OMIM:619065
HP:0100022	Abnormality of movement	112476	PRRT2	ORPHA:98811
HP:0100022	Abnormality of movement	112476	PRRT2	ORPHA:98810
HP:0100022	Abnormality of movement	112476	PRRT2	ORPHA:31709
HP:0100022	Abnormality of movement	112476	PRRT2	ORPHA:98809
HP:0100022	Abnormality of movement	84947	SERAC1	OMIM:614739
HP:0100022	Abnormality of movement	2395	FXN	ORPHA:95
HP:0100022	Abnormality of movement	25953	PNKD	ORPHA:98810
HP:0100022	Abnormality of movement	1267	CNP	OMIM:619071
HP:0100022	Abnormality of movement	23533	PIK3R5	ORPHA:64753
HP:0100022	Abnormality of movement	6507	SLC1A3	ORPHA:2131
HP:0100022	Abnormality of movement	1282	COL4A1	OMIM:175780
HP:0100022	Abnormality of movement	11128	POLR3A	ORPHA:447896
HP:0100022	Abnormality of movement	11128	POLR3A	OMIM:607694
HP:0100022	Abnormality of movement	724066	ATXN8	ORPHA:98760
HP:0100022	Abnormality of movement	8050	PDHX	OMIM:245349
HP:0100022	Abnormality of movement	25828	TXN2	OMIM:616811
HP:0100022	Abnormality of movement	3187	HNRNPH1	OMIM:620083
HP:0100022	Abnormality of movement	26047	CNTNAP2	OMIM:610042
HP:0100022	Abnormality of movement	283989	TSEN54	OMIM:277470
HP:0100022	Abnormality of movement	64116	SLC39A8	ORPHA:468699
HP:0100022	Abnormality of movement	85021	REPS1	OMIM:617916
HP:0100022	Abnormality of movement	84978	FRMD5	OMIM:620094
HP:0100022	Abnormality of movement	6567	SLC16A2	ORPHA:59
HP:0100022	Abnormality of movement	197322	ACSF3	ORPHA:289504
HP:0100022	Abnormality of movement	80067	DCAF17	OMIM:241080
HP:0100022	Abnormality of movement	57017	COQ9	OMIM:614654
HP:0100022	Abnormality of movement	22907	DHX30	OMIM:617804
HP:0100022	Abnormality of movement	10664	CTCF	OMIM:615502
HP:0100022	Abnormality of movement	339453	TMEM240	OMIM:607454
HP:0100022	Abnormality of movement	1738	DLD	OMIM:246900
HP:0100022	Abnormality of movement	7167	TPI1	OMIM:615512
HP:0100022	Abnormality of movement	55187	VPS13D	OMIM:607317
HP:0100022	Abnormality of movement	1822	ATN1	OMIM:125370
HP:0100022	Abnormality of movement	5160	PDHA1	OMIM:312170
HP:0100022	Abnormality of movement	5160	PDHA1	ORPHA:79243
HP:0100022	Abnormality of movement	2782	GNB1	OMIM:616973
HP:0100022	Abnormality of movement	57505	AARS2	OMIM:615889
HP:0100022	Abnormality of movement	3097	HIVEP2	OMIM:616977
HP:0100022	Abnormality of movement	2891	GRIA2	OMIM:618917
HP:0100022	Abnormality of movement	9512	PMPCB	OMIM:617954
HP:0100022	Abnormality of movement	2058	EPRS1	OMIM:617951
HP:0100022	Abnormality of movement	80746	TSEN2	OMIM:612389
HP:0100022	Abnormality of movement	23317	DNAJC13	ORPHA:411602
HP:0100022	Abnormality of movement	1981	EIF4G1	ORPHA:411602
HP:0100022	Abnormality of movement	55737	VPS35	ORPHA:411602
HP:0100022	Abnormality of movement	26058	GIGYF2	ORPHA:411602
HP:0100022	Abnormality of movement	9361	LONP1	ORPHA:79243
HP:0100022	Abnormality of movement	7050	TGIF1	OMIM:142946
HP:0100022	Abnormality of movement	1813	DRD2	ORPHA:36899
HP:0100022	Abnormality of movement	8910	SGCE	ORPHA:36899
HP:0100022	Abnormality of movement	79042	TSEN34	OMIM:612390
HP:0100022	Abnormality of movement	23065	EMC1	OMIM:616875
HP:0100022	Abnormality of movement	2517	FUCA1	OMIM:230000
HP:0100022	Abnormality of movement	64857	PLEKHG2	OMIM:616763
HP:0100022	Abnormality of movement	4329	ALDH6A1	OMIM:614105
HP:0100022	Abnormality of movement	55145	THAP1	ORPHA:98806
HP:0100022	Abnormality of movement	8405	SPOP	OMIM:618829
HP:0100022	Abnormality of movement	54676	GTPBP2	OMIM:617988
HP:0100022	Abnormality of movement	10577	NPC2	OMIM:607625
HP:0100022	Abnormality of movement	54802	TRIT1	OMIM:617873
HP:0100022	Abnormality of movement	84631	SLITRK2	OMIM:301107
HP:0100022	Abnormality of movement	51294	PCDH12	OMIM:251280
HP:0100022	Abnormality of movement	3778	KCNMA1	OMIM:618729
HP:0100022	Abnormality of movement	51733	UPB1	OMIM:613161
HP:0100022	Abnormality of movement	55331	ACER3	OMIM:617762
HP:0100022	Abnormality of movement	8803	SUCLA2	OMIM:612073
HP:0100022	Abnormality of movement	79587	CARS2	OMIM:616672
HP:0100022	Abnormality of movement	35	ACADS	ORPHA:26792
HP:0100022	Abnormality of movement	80169	CTC1	OMIM:612199
HP:0100022	Abnormality of movement	6091	ROBO1	OMIM:620305
HP:0100022	Abnormality of movement	374969	SVBP	OMIM:618569
HP:0100022	Abnormality of movement	1000	CDH2	OMIM:618929
HP:0100022	Abnormality of movement	10430	TMEM147	OMIM:620075
HP:0100022	Abnormality of movement	5274	SERPINI1	OMIM:604218
HP:0100022	Abnormality of movement	10617	STAMBP	OMIM:614261
HP:0100022	Abnormality of movement	6309	SC5D	ORPHA:46059
HP:0100022	Abnormality of movement	5238	PGM3	ORPHA:443811
HP:0100022	Abnormality of movement	5238	PGM3	OMIM:615816
HP:0100022	Abnormality of movement	132158	GLYCTK	ORPHA:941
HP:0100022	Abnormality of movement	132158	GLYCTK	OMIM:220120
HP:0100022	Abnormality of movement	2731	GLDC	OMIM:605899
HP:0100022	Abnormality of movement	154881	KCTD7	ORPHA:263516
HP:0100022	Abnormality of movement	55689	YEATS2	OMIM:615127
HP:0100022	Abnormality of movement	55689	YEATS2	ORPHA:86814
HP:0100022	Abnormality of movement	54982	CLN6	OMIM:204300
HP:0100022	Abnormality of movement	10501	SEMA6B	OMIM:618876
HP:0100022	Abnormality of movement	1476	CSTB	OMIM:254800
HP:0100022	Abnormality of movement	1476	CSTB	ORPHA:308
HP:0100022	Abnormality of movement	10000	AKT3	ORPHA:99802
HP:0100022	Abnormality of movement	846	CASR	OMIM:612899
HP:0100022	Abnormality of movement	4884	NPTX1	OMIM:620158
HP:0100022	Abnormality of movement	56246	MRAP	OMIM:607398
HP:0100022	Abnormality of movement	79693	YRDC	OMIM:619609
HP:0100022	Abnormality of movement	7259	TSPYL1	ORPHA:168593
HP:0100022	Abnormality of movement	535	ATP6V0A1	OMIM:619971
HP:0100022	Abnormality of movement	2892	GRIA3	OMIM:300699
HP:0100022	Abnormality of movement	2892	GRIA3	ORPHA:364028
HP:0100022	Abnormality of movement	100131801	PET100	OMIM:619055
HP:0100022	Abnormality of movement	3899	AFF3	OMIM:619297
HP:0100022	Abnormality of movement	55037	PTCD3	OMIM:619057
HP:0100022	Abnormality of movement	1327	COX4I1	OMIM:619060
HP:0100022	Abnormality of movement	4565	MT-TI	OMIM:545000
HP:0100022	Abnormality of movement	388962	BOLA3	OMIM:614299
HP:0100022	Abnormality of movement	1201	CLN3	OMIM:204200
HP:0100022	Abnormality of movement	84342	COG8	ORPHA:95428
HP:0100022	Abnormality of movement	84342	COG8	OMIM:611182
HP:0100022	Abnormality of movement	144165	PRICKLE1	OMIM:612437
HP:0100022	Abnormality of movement	144165	PRICKLE1	ORPHA:308
HP:0100022	Abnormality of movement	8021	NUP214	OMIM:618426
HP:0100022	Abnormality of movement	9533	POLR1C	OMIM:616494
HP:0100022	Abnormality of movement	221692	PHACTR1	ORPHA:3451
HP:0100022	Abnormality of movement	60558	GUF1	ORPHA:3451
HP:0100022	Abnormality of movement	60558	GUF1	OMIM:617065
HP:0100022	Abnormality of movement	3662	IRF4	ORPHA:3452
HP:0100022	Abnormality of movement	55275	VPS53	OMIM:615851
HP:0100022	Abnormality of movement	5664	PSEN2	ORPHA:1020
HP:0100022	Abnormality of movement	5664	PSEN2	OMIM:606889
HP:0100022	Abnormality of movement	10452	TOMM40	ORPHA:1020
HP:0100022	Abnormality of movement	10347	ABCA7	ORPHA:1020
HP:0100022	Abnormality of movement	6653	SORL1	ORPHA:1020
HP:0100022	Abnormality of movement	114327	EFHC1	ORPHA:1941
HP:0100022	Abnormality of movement	80331	DNAJC5	OMIM:162350
HP:0100022	Abnormality of movement	3155	HMGCL	ORPHA:20
HP:0100022	Abnormality of movement	3155	HMGCL	OMIM:246450
HP:0100022	Abnormality of movement	4723	NDUFV1	OMIM:618225
HP:0100022	Abnormality of movement	23114	NFASC	OMIM:618356
HP:0100022	Abnormality of movement	6096	RORB	OMIM:618357
HP:0100022	Abnormality of movement	6900	CNTN2	OMIM:615400
HP:0100022	Abnormality of movement	6900	CNTN2	ORPHA:86814
HP:0100022	Abnormality of movement	29968	PSAT1	OMIM:610992
HP:0100022	Abnormality of movement	29968	PSAT1	ORPHA:284417
HP:0100022	Abnormality of movement	91869	RFT1	OMIM:612015
HP:0100022	Abnormality of movement	8869	ST3GAL5	OMIM:609056
HP:0100022	Abnormality of movement	3192	HNRNPU	OMIM:617391
HP:0100022	Abnormality of movement	25915	NDUFAF3	OMIM:618240
HP:0100022	Abnormality of movement	3746	KCNC1	OMIM:616187
HP:0100022	Abnormality of movement	8604	SLC25A12	OMIM:612949
HP:0100022	Abnormality of movement	23258	DENND5A	OMIM:617281
HP:0100022	Abnormality of movement	51300	TIMMDC1	OMIM:618251
HP:0100022	Abnormality of movement	11212	PLPBP	OMIM:617290
HP:0100022	Abnormality of movement	11019	LIAS	OMIM:614462
HP:0100022	Abnormality of movement	56978	PRDM8	OMIM:616640
HP:0100022	Abnormality of movement	56978	PRDM8	ORPHA:324290
HP:0100022	Abnormality of movement	6335	SCN9A	ORPHA:33069
HP:0100022	Abnormality of movement	57526	PCDH19	ORPHA:33069
HP:0100022	Abnormality of movement	526	ATP6V1B2	ORPHA:79500
HP:0100022	Abnormality of movement	56910	STARD7	OMIM:607876
HP:0100022	Abnormality of movement	151	ADRA2B	ORPHA:86814
HP:0100022	Abnormality of movement	1501	CTNND2	ORPHA:86814
HP:0100022	Abnormality of movement	401474	SAMD12	ORPHA:86814
HP:0100022	Abnormality of movement	55704	CCDC88A	OMIM:617507
HP:0100022	Abnormality of movement	5538	PPT1	OMIM:256730
HP:0100022	Abnormality of movement	1203	CLN5	OMIM:256731
HP:0100022	Abnormality of movement	4668	NAGA	OMIM:609241
HP:0100022	Abnormality of movement	4668	NAGA	ORPHA:79279
HP:0100022	Abnormality of movement	55005	RMND1	OMIM:614922
HP:0100022	Abnormality of movement	8996	NOL3	OMIM:614937
HP:0100022	Abnormality of movement	101060691	NUTM2B-AS1	OMIM:618637
HP:0100022	Abnormality of movement	51816	ADA2	OMIM:182410
HP:0100022	Abnormality of movement	51816	ADA2	ORPHA:820
HP:0100022	Abnormality of movement	64834	ELOVL1	OMIM:618527
HP:0100022	Abnormality of movement	9692	PRORP	OMIM:619737
HP:0100022	Abnormality of movement	54968	TMEM70	OMIM:614052
HP:0100022	Abnormality of movement	5373	PMM2	OMIM:212065
HP:0100022	Abnormality of movement	7428	VHL	ORPHA:29072
HP:0100022	Abnormality of movement	7428	VHL	ORPHA:276621
HP:0100022	Abnormality of movement	1743	DLST	ORPHA:29072
HP:0100022	Abnormality of movement	5979	RET	ORPHA:29072
HP:0100022	Abnormality of movement	5979	RET	ORPHA:276621
HP:0100022	Abnormality of movement	2271	FH	ORPHA:29072
HP:0100022	Abnormality of movement	8402	SLC25A11	ORPHA:29072
HP:0100022	Abnormality of movement	54949	SDHAF2	ORPHA:29072
HP:0100022	Abnormality of movement	55654	TMEM127	ORPHA:29072
HP:0100022	Abnormality of movement	4763	NF1	ORPHA:29072
HP:0100022	Abnormality of movement	6391	SDHC	ORPHA:29072
HP:0100022	Abnormality of movement	4149	MAX	ORPHA:29072
HP:0100022	Abnormality of movement	100134444	KCNJ18	ORPHA:79102
HP:0100022	Abnormality of movement	100134444	KCNJ18	OMIM:613239
HP:0100022	Abnormality of movement	2556	GABRA3	ORPHA:79102
HP:0100022	Abnormality of movement	779	CACNA1S	ORPHA:79102
HP:0100022	Abnormality of movement	166785	MMAA	OMIM:251100
HP:0100022	Abnormality of movement	23556	PIGN	OMIM:614080
HP:0100022	Abnormality of movement	23556	PIGN	ORPHA:280633
HP:0100022	Abnormality of movement	2678	GGT1	OMIM:231950
HP:0100022	Abnormality of movement	4633	MYL2	OMIM:619424
HP:0100022	Abnormality of movement	54517	PUS7	OMIM:618342
HP:0100022	Abnormality of movement	3712	IVD	ORPHA:33
HP:0100022	Abnormality of movement	1491	CTH	ORPHA:212
HP:0100022	Abnormality of movement	400569	MED11	OMIM:620327
HP:0100022	Abnormality of movement	6898	TAT	ORPHA:28378
HP:0100022	Abnormality of movement	3172	HNF4A	ORPHA:263455
HP:0100022	Abnormality of movement	8091	HMGA2	ORPHA:94063
HP:0100022	Abnormality of movement	23592	LEMD3	ORPHA:94063
HP:0100022	Abnormality of movement	55630	SLC39A4	OMIM:201100
HP:0100022	Abnormality of movement	9758	FRMPD4	OMIM:300983
HP:0100022	Abnormality of movement	4221	MEN1	ORPHA:97279
HP:0100022	Abnormality of movement	128240	NAXE	OMIM:617186
HP:0100022	Abnormality of movement	4841	NONO	OMIM:300967
HP:0100022	Abnormality of movement	1650	DDOST	ORPHA:300536
HP:0100022	Abnormality of movement	1493	CTLA4	ORPHA:3162
HP:0100022	Abnormality of movement	940	CD28	ORPHA:3162
HP:0100022	Abnormality of movement	7133	TNFRSF1B	ORPHA:3162
HP:0100022	Abnormality of movement	55074	OXR1	OMIM:213000
HP:0100022	Abnormality of movement	9898	UBAP2L	OMIM:620494
HP:0100022	Abnormality of movement	6095	RORA	OMIM:618060
HP:0100022	Abnormality of movement	64324	NSD1	ORPHA:821
HP:0100022	Abnormality of movement	10297	APC2	ORPHA:821
HP:0100022	Abnormality of movement	23600	AMACR	ORPHA:79095
HP:0100022	Abnormality of movement	23600	AMACR	OMIM:614307
HP:0100022	Abnormality of movement	1788	DNMT3A	ORPHA:276621
HP:0100022	Abnormality of movement	2034	EPAS1	ORPHA:276621
HP:0100022	Abnormality of movement	7276	TTR	OMIM:105210
HP:0100022	Abnormality of movement	7466	WFS1	OMIM:222300
HP:0100022	Abnormality of movement	5230	PGK1	ORPHA:713
HP:0100022	Abnormality of movement	112755	STX1B	ORPHA:36387
HP:0100022	Abnormality of movement	2258	FGF13	ORPHA:36387
HP:0100022	Abnormality of movement	84059	ADGRV1	ORPHA:36387
HP:0100022	Abnormality of movement	2073	ERCC5	OMIM:278780
HP:0100022	Abnormality of movement	8813	DPM1	OMIM:608799
HP:0100022	Abnormality of movement	9147	NEMF	OMIM:619099
HP:0100022	Abnormality of movement	340024	SLC6A19	ORPHA:2116
HP:0100022	Abnormality of movement	57393	CLTRN	ORPHA:2116
HP:0100022	Abnormality of movement	2703	GJA8	OMIM:612474
HP:0100022	Abnormality of movement	2702	GJA5	OMIM:612474
HP:0100022	Abnormality of movement	9445	ITM2B	OMIM:176500
HP:0100022	Abnormality of movement	11093	ADAMTS13	OMIM:274150
HP:0100022	Abnormality of movement	5053	PAH	ORPHA:79254
HP:0100022	Abnormality of movement	6314	ATXN7	OMIM:164500
HP:0100022	Abnormality of movement	64072	CDH23	ORPHA:91347
HP:0100022	Abnormality of movement	54658	UGT1A1	ORPHA:79234
HP:0100022	Abnormality of movement	79784	MYH14	ORPHA:397744
HP:0100022	Abnormality of movement	79784	MYH14	OMIM:614369
HP:0100022	Abnormality of movement	6182	MRPL12	OMIM:618951
HP:0100022	Abnormality of movement	4780	NFE2L2	OMIM:617744
HP:0100022	Abnormality of movement	57570	TRMT5	OMIM:616539
HP:0100022	Abnormality of movement	440	ASNS	OMIM:615574
HP:0100022	Abnormality of movement	119559	SFXN4	OMIM:615578
HP:0100022	Abnormality of movement	5052	PRDX1	OMIM:277400
HP:0100022	Abnormality of movement	25974	MMACHC	OMIM:277400
HP:0100022	Abnormality of movement	6873	TAF2	OMIM:615599
HP:0100022	Abnormality of movement	6873	TAF2	ORPHA:397951
HP:0100022	Abnormality of movement	7360	UGP2	OMIM:618744
HP:0100022	Abnormality of movement	1786	DNMT1	ORPHA:314404
HP:0100022	Abnormality of movement	1786	DNMT1	OMIM:604121
HP:0100022	Abnormality of movement	10300	KATNB1	OMIM:616212
HP:0100022	Abnormality of movement	284403	WDR62	OMIM:604317
HP:0100022	Abnormality of movement	284403	WDR62	ORPHA:2512
HP:0100022	Abnormality of movement	1716	DGUOK	OMIM:251880
HP:0100022	Abnormality of movement	5833	PCYT2	OMIM:618770
HP:0100022	Abnormality of movement	79731	NARS2	OMIM:616239
HP:0100022	Abnormality of movement	1660	DHX9	OMIM:620988
HP:0100022	Abnormality of movement	79796	ALG9	ORPHA:79328
HP:0100022	Abnormality of movement	79796	ALG9	OMIM:608776
HP:0100022	Abnormality of movement	122961	ISCA2	OMIM:616370
HP:0100022	Abnormality of movement	11261	CHP1	OMIM:618438
HP:0100022	Abnormality of movement	2729	GCLC	ORPHA:33574
HP:0100022	Abnormality of movement	51163	DBR1	OMIM:620510
HP:0100022	Abnormality of movement	3763	KCNJ6	OMIM:614098
HP:0100022	Abnormality of movement	3763	KCNJ6	ORPHA:435628
HP:0100022	Abnormality of movement	22930	RAB3GAP1	OMIM:619420
HP:0100022	Abnormality of movement	22930	RAB3GAP1	OMIM:600118
HP:0100022	Abnormality of movement	835	CASP2	OMIM:620653
HP:0100022	Abnormality of movement	7187	TRAF3	ORPHA:1930
HP:0100022	Abnormality of movement	81622	UNC93B1	ORPHA:1930
HP:0100022	Abnormality of movement	148022	TICAM1	ORPHA:1930
HP:0100022	Abnormality of movement	7098	TLR3	ORPHA:1930
HP:0100022	Abnormality of movement	1317	SLC31A1	OMIM:620306
HP:0100022	Abnormality of movement	4720	NDUFS2	OMIM:618228
HP:0100022	Abnormality of movement	959	CD40LG	OMIM:308230
HP:0100022	Abnormality of movement	55182	RNF220	OMIM:619688
HP:0100022	Abnormality of movement	10978	CLP1	ORPHA:411493
HP:0100022	Abnormality of movement	10978	CLP1	OMIM:615803
HP:0100022	Abnormality of movement	157922	CAMSAP1	OMIM:620316
HP:0100022	Abnormality of movement	55250	ELP2	OMIM:617270
HP:0100022	Abnormality of movement	6045	RNF2	OMIM:619460
HP:0100022	Abnormality of movement	9496	TBX4	ORPHA:261279
HP:0100022	Abnormality of movement	84668	HYCC1	OMIM:610532
HP:0100022	Abnormality of movement	50801	KCNK4	OMIM:618381
HP:0100022	Abnormality of movement	57003	CCDC47	OMIM:618268
HP:0100022	Abnormality of movement	29926	GMPPA	ORPHA:869
HP:0100022	Abnormality of movement	29926	GMPPA	OMIM:615510
HP:0100022	Abnormality of movement	8086	AAAS	ORPHA:869
HP:0100022	Abnormality of movement	8086	AAAS	OMIM:231550
HP:0100022	Abnormality of movement	57038	RARS2	OMIM:611523
HP:0100022	Abnormality of movement	10084	PQBP1	OMIM:309500
HP:0100022	Abnormality of movement	55315	SLC29A3	ORPHA:168569
HP:0100022	Abnormality of movement	27445	PCLO	OMIM:608027
HP:0100022	Abnormality of movement	283450	HECTD4	OMIM:620250
HP:0100022	Abnormality of movement	11113	CIT	OMIM:617090
HP:0100022	Abnormality of movement	11113	CIT	ORPHA:2512
HP:0100022	Abnormality of movement	83700	JAM3	OMIM:613730
HP:0100022	Abnormality of movement	25839	COG4	ORPHA:263501
HP:0100022	Abnormality of movement	25839	COG4	OMIM:613489
HP:0100022	Abnormality of movement	672	BRCA1	ORPHA:84
HP:0100022	Abnormality of movement	10459	MAD2L2	ORPHA:84
HP:0100022	Abnormality of movement	7516	XRCC2	ORPHA:84
HP:0100022	Abnormality of movement	29089	UBE2T	ORPHA:84
HP:0100022	Abnormality of movement	55120	FANCL	ORPHA:84
HP:0100022	Abnormality of movement	2177	FANCD2	ORPHA:84
HP:0100022	Abnormality of movement	2175	FANCA	ORPHA:84
HP:0100022	Abnormality of movement	2187	FANCB	ORPHA:84
HP:0100022	Abnormality of movement	2176	FANCC	ORPHA:84
HP:0100022	Abnormality of movement	2178	FANCE	ORPHA:84
HP:0100022	Abnormality of movement	2188	FANCF	ORPHA:84
HP:0100022	Abnormality of movement	2189	FANCG	ORPHA:84
HP:0100022	Abnormality of movement	5889	RAD51C	ORPHA:84
HP:0100022	Abnormality of movement	55159	RFWD3	ORPHA:84
HP:0100022	Abnormality of movement	83990	BRIP1	ORPHA:84
HP:0100022	Abnormality of movement	57697	FANCM	ORPHA:84
HP:0100022	Abnormality of movement	79728	PALB2	ORPHA:84
HP:0100022	Abnormality of movement	84464	SLX4	ORPHA:84
HP:0100022	Abnormality of movement	55215	FANCI	ORPHA:84
HP:0100022	Abnormality of movement	26090	ABHD12	OMIM:612674
HP:0100022	Abnormality of movement	149371	EXOC8	OMIM:619076
HP:0100022	Abnormality of movement	27286	SRPX2	ORPHA:98889
HP:0100022	Abnormality of movement	6558	SLC12A2	OMIM:619080
HP:0100022	Abnormality of movement	2776	GNAQ	ORPHA:3205
HP:0100022	Abnormality of movement	10075	HUWE1	OMIM:309590
HP:0100022	Abnormality of movement	5859	QARS1	OMIM:615760
HP:0100022	Abnormality of movement	2138	EYA1	ORPHA:2792
HP:0100022	Abnormality of movement	5075	PAX1	ORPHA:2792
HP:0100022	Abnormality of movement	5498	PPOX	ORPHA:79473
HP:0100022	Abnormality of movement	81689	ISCA1	OMIM:617613
HP:0100022	Abnormality of movement	2670	GFAP	ORPHA:363722
HP:0100022	Abnormality of movement	2670	GFAP	ORPHA:363717
HP:0100022	Abnormality of movement	617	BCS1L	OMIM:124000
HP:0100022	Abnormality of movement	9928	KIF14	ORPHA:2512
HP:0100022	Abnormality of movement	22995	CEP152	ORPHA:2512
HP:0100022	Abnormality of movement	55262	TRAPPC14	ORPHA:2512
HP:0100022	Abnormality of movement	163786	SASS6	ORPHA:2512
HP:0100022	Abnormality of movement	4176	MCM7	ORPHA:2512
HP:0100022	Abnormality of movement	80254	CEP63	ORPHA:2512
HP:0100022	Abnormality of movement	29081	METTL5	ORPHA:2512
HP:0100022	Abnormality of movement	79023	NUP37	ORPHA:2512
HP:0100022	Abnormality of movement	23310	NCAPD3	ORPHA:2512
HP:0100022	Abnormality of movement	6301	SARS1	ORPHA:2512
HP:0100022	Abnormality of movement	55755	CDK5RAP2	ORPHA:2512
HP:0100022	Abnormality of movement	79648	MCPH1	ORPHA:2512
HP:0100022	Abnormality of movement	23141	ANKLE2	ORPHA:2512
HP:0100022	Abnormality of movement	259266	ASPM	ORPHA:2512
HP:0100022	Abnormality of movement	1911	PHC1	ORPHA:2512
HP:0100022	Abnormality of movement	1062	CENPE	ORPHA:2512
HP:0100022	Abnormality of movement	6884	TAF13	ORPHA:2512
HP:0100022	Abnormality of movement	9662	CEP135	ORPHA:2512
HP:0100022	Abnormality of movement	57082	KNL1	ORPHA:2512
HP:0100022	Abnormality of movement	1021	CDK6	ORPHA:2512
HP:0100022	Abnormality of movement	2182	ACSL4	OMIM:300387
HP:0100022	Abnormality of movement	51075	TMX2	OMIM:618730
HP:0100022	Abnormality of movement	18	ABAT	OMIM:613163
HP:0100022	Abnormality of movement	10466	COG5	ORPHA:263487
HP:0100022	Abnormality of movement	10785	WDR4	OMIM:618346
HP:0100022	Abnormality of movement	4570	MT-TN	OMIM:220110
HP:0100022	Abnormality of movement	4570	MT-TN	ORPHA:663
HP:0100022	Abnormality of movement	4568	MT-TL2	ORPHA:663
HP:0100022	Abnormality of movement	1352	COX10	OMIM:619046
HP:0100022	Abnormality of movement	4784	NFIX	OMIM:602535
HP:0100022	Abnormality of movement	2660	MSTN	OMIM:614160
HP:0100022	Abnormality of movement	9377	COX5A	OMIM:619064
HP:0100022	Abnormality of movement	5063	PAK3	OMIM:300558
HP:0100022	Abnormality of movement	91461	PKDCC	OMIM:618821
HP:0100022	Abnormality of movement	23137	SMC5	OMIM:620185
HP:0100022	Abnormality of movement	1615	DARS1	OMIM:615281
HP:0100022	Abnormality of movement	51124	IER3IP1	OMIM:614231
HP:0100022	Abnormality of movement	9474	ATG5	OMIM:617584
HP:0100022	Abnormality of movement	57479	PRR12	OMIM:619539
HP:0100022	Abnormality of movement	10516	FBLN5	ORPHA:90348
HP:0100022	Abnormality of movement	587	BCAT2	OMIM:618850
HP:0100022	Abnormality of movement	10844	TUBGCP2	OMIM:618737
HP:0100022	Abnormality of movement	4099	MAG	OMIM:616680
HP:0100022	Abnormality of movement	324	APC	ORPHA:261584
HP:0100022	Abnormality of movement	547	KIF1A	OMIM:610357
HP:0100022	Abnormality of movement	547	KIF1A	ORPHA:101010
HP:0100022	Abnormality of movement	9197	SLC33A1	OMIM:612539
HP:0100022	Abnormality of movement	9197	SLC33A1	ORPHA:171863
HP:0100022	Abnormality of movement	10166	SLC25A15	ORPHA:415
HP:0100022	Abnormality of movement	10166	SLC25A15	OMIM:238970
HP:0100022	Abnormality of movement	51204	TACO1	OMIM:619052
HP:0100022	Abnormality of movement	11145	PLAAT3	OMIM:620683
HP:0100022	Abnormality of movement	25778	DSTYK	ORPHA:101003
HP:0100022	Abnormality of movement	9420	CYP7B1	OMIM:270800
HP:0100022	Abnormality of movement	9907	AP5Z1	OMIM:613647
HP:0100022	Abnormality of movement	9907	AP5Z1	ORPHA:306511
HP:0100022	Abnormality of movement	9895	TECPR2	OMIM:615031
HP:0100022	Abnormality of movement	57498	KIDINS220	OMIM:617296
HP:0100022	Abnormality of movement	84879	MFSD2A	OMIM:616486
HP:0100022	Abnormality of movement	80232	WDR26	OMIM:617616
HP:0100022	Abnormality of movement	22978	NT5C2	ORPHA:320396
HP:0100022	Abnormality of movement	22978	NT5C2	OMIM:613162
HP:0100022	Abnormality of movement	6472	SHMT2	OMIM:619121
HP:0100022	Abnormality of movement	79971	WLS	OMIM:619648
HP:0100022	Abnormality of movement	9101	USP8	ORPHA:401795
HP:0100022	Abnormality of movement	54888	NSUN2	OMIM:611091
HP:0100022	Abnormality of movement	3329	HSPD1	OMIM:605280
HP:0100022	Abnormality of movement	3329	HSPD1	ORPHA:100994
HP:0100022	Abnormality of movement	383	ARG1	OMIM:207800
HP:0100022	Abnormality of movement	6683	SPAST	OMIM:182601
HP:0100022	Abnormality of movement	3798	KIF5A	OMIM:604187
HP:0100022	Abnormality of movement	10749	KIF1C	ORPHA:397946
HP:0100022	Abnormality of movement	10749	KIF1C	OMIM:611302
HP:0100022	Abnormality of movement	8450	CUL4B	OMIM:300354
HP:0100022	Abnormality of movement	158	ADSL	OMIM:103050
HP:0100022	Abnormality of movement	23646	PLD3	OMIM:617770
HP:0100022	Abnormality of movement	146227	BEAN1	OMIM:117210
HP:0100022	Abnormality of movement	146227	BEAN1	ORPHA:217012
HP:0100022	Abnormality of movement	51126	NAA20	OMIM:619717
HP:0100022	Abnormality of movement	9254	CACNA2D2	OMIM:618501
HP:0100022	Abnormality of movement	8722	CTSF	OMIM:615362
HP:0100022	Abnormality of movement	283489	CHAMP1	OMIM:616579
HP:0100022	Abnormality of movement	8309	ACOX2	OMIM:617308
HP:0100022	Abnormality of movement	2911	GRM1	OMIM:614831
HP:0100022	Abnormality of movement	2911	GRM1	OMIM:617691
HP:0100022	Abnormality of movement	2911	GRM1	ORPHA:324262
HP:0100022	Abnormality of movement	24142	NAA80	OMIM:620830
HP:0100022	Abnormality of movement	28960	DCPS	OMIM:616459
HP:0100022	Abnormality of movement	55780	ERMARD	ORPHA:75857
HP:0100022	Abnormality of movement	7175	TPR	OMIM:620393
HP:0100022	Abnormality of movement	7054	TH	OMIM:605407
HP:0100022	Abnormality of movement	7054	TH	ORPHA:101150
HP:0100022	Abnormality of movement	57492	ARID1B	OMIM:135900
HP:0100022	Abnormality of movement	5173	PDYN	OMIM:610245
HP:0100022	Abnormality of movement	5173	PDYN	ORPHA:101108
HP:0100022	Abnormality of movement	27072	VPS41	ORPHA:95434
HP:0100022	Abnormality of movement	857	CAV1	OMIM:606721
HP:0100022	Abnormality of movement	10935	PRDX3	OMIM:619862
HP:0100022	Abnormality of movement	23203	PMPCA	ORPHA:1170
HP:0100022	Abnormality of movement	23203	PMPCA	OMIM:213200
HP:0100022	Abnormality of movement	5528	PPP2R5D	OMIM:616355
HP:0100022	Abnormality of movement	950	SCARB2	OMIM:254900
HP:0100022	Abnormality of movement	1938	EEF2	OMIM:609306
HP:0100022	Abnormality of movement	5518	PPP2R1A	OMIM:616362
HP:0100022	Abnormality of movement	253738	EBF3	OMIM:617330
HP:0100022	Abnormality of movement	5582	PRKCG	ORPHA:98763
HP:0100022	Abnormality of movement	5582	PRKCG	OMIM:605361
HP:0100022	Abnormality of movement	59336	PRDM13	OMIM:619761
HP:0100022	Abnormality of movement	23261	CAMTA1	OMIM:614756
HP:0100022	Abnormality of movement	84919	PPP1R15B	OMIM:616817
HP:0100022	Abnormality of movement	6925	TCF4	OMIM:610954
HP:0100022	Abnormality of movement	6925	TCF4	ORPHA:2896
HP:0100022	Abnormality of movement	4677	NARS1	OMIM:619092
HP:0100022	Abnormality of movement	9922	IQSEC1	OMIM:618687
HP:0100022	Abnormality of movement	55149	MTPAP	OMIM:613672
HP:0100022	Abnormality of movement	2055	CLN8	ORPHA:1947
HP:0100022	Abnormality of movement	404672	GTF2H5	ORPHA:33364
HP:0100022	Abnormality of movement	2068	ERCC2	ORPHA:33364
HP:0100022	Abnormality of movement	7737	RNF113A	ORPHA:33364
HP:0100022	Abnormality of movement	7737	RNF113A	OMIM:300953
HP:0100022	Abnormality of movement	136647	MPLKIP	ORPHA:33364
HP:0100022	Abnormality of movement	6897	TARS1	ORPHA:33364
HP:0100022	Abnormality of movement	2071	ERCC3	ORPHA:33364
HP:0100022	Abnormality of movement	2961	GTF2E2	ORPHA:33364
HP:0100022	Abnormality of movement	6595	SMARCA2	OMIM:601358
HP:0100022	Abnormality of movement	5111	PCNA	ORPHA:438134
HP:0100022	Abnormality of movement	57410	SCYL1	OMIM:616719
HP:0100022	Abnormality of movement	57410	SCYL1	ORPHA:466794
HP:0100022	Abnormality of movement	54704	PDP1	OMIM:608782
HP:0100022	Abnormality of movement	6134	RPL10	OMIM:300998
HP:0100022	Abnormality of movement	1173	AP2M1	OMIM:618587
HP:0100022	Abnormality of movement	57102	FERRY3	OMIM:618221
HP:0100022	Abnormality of movement	10765	KDM5B	OMIM:618109
HP:0100022	Abnormality of movement	6548	SLC9A1	OMIM:616291
HP:0100022	Abnormality of movement	23102	TBC1D2B	OMIM:619323
HP:0100022	Abnormality of movement	440193	CCDC88C	OMIM:616053
HP:0100022	Abnormality of movement	440193	CCDC88C	ORPHA:423275
HP:0100022	Abnormality of movement	5994	RFXAP	ORPHA:572
HP:0100022	Abnormality of movement	4261	CIITA	ORPHA:572
HP:0100022	Abnormality of movement	5993	RFX5	ORPHA:572
HP:0100022	Abnormality of movement	8625	RFXANK	ORPHA:572
HP:0100022	Abnormality of movement	1181	CLCN2	OMIM:615651
HP:0100022	Abnormality of movement	4125	MAN2B1	OMIM:248500
HP:0100022	Abnormality of movement	91137	SLC25A46	OMIM:616505
HP:0100022	Abnormality of movement	54974	THG1L	OMIM:618800
HP:0100022	Abnormality of movement	9675	TTI1	OMIM:620445
HP:0100022	Abnormality of movement	3119	HLA-DQB1	OMIM:123400
HP:0100022	Abnormality of movement	20	ABCA2	OMIM:618808
HP:0100022	Abnormality of movement	4547	MTTP	ORPHA:14
HP:0100022	Abnormality of movement	5611	DNAJC3	OMIM:616192
HP:0100022	Abnormality of movement	5611	DNAJC3	ORPHA:445062
HP:0100022	Abnormality of movement	372	ARCN1	OMIM:617164
HP:0100022	Abnormality of movement	23395	LARS2	OMIM:615300
HP:0100022	Abnormality of movement	2065	ERBB3	OMIM:243180
HP:0100022	Abnormality of movement	9997	SCO2	OMIM:604377
HP:0100022	Abnormality of movement	65260	COA7	OMIM:618387
HP:0100022	Abnormality of movement	3615	IMPDH2	ORPHA:98808
HP:0100022	Abnormality of movement	131669	UROC1	OMIM:276880
HP:0100022	Abnormality of movement	131669	UROC1	ORPHA:210128
HP:0100022	Abnormality of movement	5058	PAK1	OMIM:618158
HP:0100022	Abnormality of movement	122553	TRAPPC6B	OMIM:617862
HP:0100022	Abnormality of movement	7204	TRIO	ORPHA:476126
HP:0100022	Abnormality of movement	3295	HSD17B4	OMIM:233400
HP:0100022	Abnormality of movement	9516	LITAF	OMIM:601098
HP:0100022	Abnormality of movement	5456	POU3F4	ORPHA:1435
HP:0100022	Abnormality of movement	84823	LMNB2	OMIM:616540
HP:0100022	Abnormality of movement	7515	XRCC1	OMIM:617633
HP:0100022	Abnormality of movement	738	VPS51	OMIM:618606
HP:0100022	Abnormality of movement	1795	DOCK3	OMIM:618292
HP:0100022	Abnormality of movement	129285	PPP1R21	OMIM:619383
HP:0100022	Abnormality of movement	84842	HPDL	OMIM:619027
HP:0100022	Abnormality of movement	221927	BRAT1	OMIM:618056
HP:0100022	Abnormality of movement	2196	FAT2	OMIM:617769
HP:0100022	Abnormality of movement	55129	ANO10	OMIM:613728
HP:0100022	Abnormality of movement	56896	DPYSL5	OMIM:619435
HP:0100022	Abnormality of movement	9698	PUM1	OMIM:617931
HP:0100022	Abnormality of movement	5309	PITX3	OMIM:610623
HP:0100022	Abnormality of movement	9150	CTDP1	OMIM:604168
HP:0100022	Abnormality of movement	9150	CTDP1	ORPHA:48431
HP:0100022	Abnormality of movement	54476	RNF216	OMIM:212840
HP:0100022	Abnormality of movement	2215	FCGR3B	ORPHA:536
HP:0100022	Abnormality of movement	3684	ITGAM	ORPHA:536
HP:0100022	Abnormality of movement	221895	JAZF1	ORPHA:536
HP:0100022	Abnormality of movement	7292	TNFSF4	ORPHA:536
HP:0100022	Abnormality of movement	640	BLK	ORPHA:536
HP:0100022	Abnormality of movement	55024	BANK1	ORPHA:536
HP:0100022	Abnormality of movement	3500	IGHG1	ORPHA:536
HP:0100022	Abnormality of movement	3654	IRAK1	ORPHA:536
HP:0100022	Abnormality of movement	26191	PTPN22	ORPHA:536
HP:0100022	Abnormality of movement	1380	CR2	ORPHA:536
HP:0100022	Abnormality of movement	5133	PDCD1	ORPHA:536
HP:0100022	Abnormality of movement	2113	ETS1	ORPHA:536
HP:0100022	Abnormality of movement	2213	FCGR2B	ORPHA:536
HP:0100022	Abnormality of movement	10318	TNIP1	ORPHA:536
HP:0100022	Abnormality of movement	7332	UBE2L3	ORPHA:536
HP:0100022	Abnormality of movement	79932	KIAA0319L	ORPHA:536
HP:0100022	Abnormality of movement	3663	IRF5	ORPHA:536
HP:0100022	Abnormality of movement	3123	HLA-DRB1	ORPHA:536
HP:0100022	Abnormality of movement	721	C4B	ORPHA:536
HP:0100022	Abnormality of movement	1773	DNASE1	ORPHA:536
HP:0100022	Abnormality of movement	51284	TLR7	ORPHA:536
HP:0100022	Abnormality of movement	51284	TLR7	OMIM:301080
HP:0100022	Abnormality of movement	6696	SPP1	ORPHA:536
HP:0100022	Abnormality of movement	54899	PXK	ORPHA:536
HP:0100022	Abnormality of movement	7128	TNFAIP3	ORPHA:536
HP:0100022	Abnormality of movement	7128	TNFAIP3	OMIM:616744
HP:0100022	Abnormality of movement	3054	HCFC1	OMIM:309541
HP:0100022	Abnormality of movement	39	ACAT2	OMIM:614055
HP:0100022	Abnormality of movement	54	ACP5	ORPHA:1855
HP:0100022	Abnormality of movement	57282	SLC4A10	OMIM:620746
HP:0100022	Abnormality of movement	11338	U2AF2	OMIM:620535
HP:0100022	Abnormality of movement	9524	TECR	OMIM:614020
HP:0100022	Abnormality of movement	221496	LEMD2	OMIM:619322
HP:0100022	Abnormality of movement	81562	LMAN2L	OMIM:617863
HP:0100022	Abnormality of movement	2937	GSS	OMIM:266130
HP:0100022	Abnormality of movement	26277	TINF2	OMIM:268130
HP:0100022	Abnormality of movement	11253	MAN1B1	ORPHA:397941
HP:0100022	Abnormality of movement	23314	SATB2	ORPHA:251028
HP:0100022	Abnormality of movement	23314	SATB2	OMIM:612313
HP:0100022	Abnormality of movement	85358	SHANK3	OMIM:606232
HP:0100022	Abnormality of movement	91942	NDUFAF2	OMIM:618233
HP:0100022	Abnormality of movement	63895	PIEZO2	OMIM:617146
HP:0100022	Abnormality of movement	6492	SIM1	ORPHA:171829
HP:0100022	Abnormality of movement	790	CAD	OMIM:616457
HP:0100022	Abnormality of movement	10847	SRCAP	ORPHA:2044
HP:0100022	Abnormality of movement	2132	EXT2	ORPHA:466926
HP:0100022	Abnormality of movement	57231	SNX14	ORPHA:397709
HP:0100022	Abnormality of movement	4131	MAP1B	OMIM:618918
HP:0100022	Abnormality of movement	4297	KMT2A	OMIM:605130
HP:0100022	Abnormality of movement	9289	ADGRG1	OMIM:606854
HP:0100022	Abnormality of movement	23321	TRIM2	OMIM:615490
HP:0100022	Abnormality of movement	51132	RLIM	OMIM:300978
HP:0100022	Abnormality of movement	63035	BCORL1	OMIM:301029
HP:0100022	Abnormality of movement	9968	MED12	ORPHA:93932
HP:0100022	Abnormality of movement	26007	TKFC	OMIM:618805
HP:0100022	Abnormality of movement	9378	NRXN1	OMIM:614325
HP:0100022	Abnormality of movement	9839	ZEB2	ORPHA:261552
HP:0100022	Abnormality of movement	9839	ZEB2	ORPHA:261537
HP:0100022	Abnormality of movement	10087	CERT1	OMIM:616351
HP:0100022	Abnormality of movement	7156	TOP3A	OMIM:618098
HP:0100022	Abnormality of movement	7067	THRA	OMIM:614450
HP:0100022	Abnormality of movement	2783	GNB2	OMIM:619503
HP:0100022	Abnormality of movement	6445	SGCG	ORPHA:353
HP:0100022	Abnormality of movement	84065	TMEM222	OMIM:619470
HP:0100022	Abnormality of movement	339983	NAT8L	OMIM:614063
HP:0100022	Abnormality of movement	8493	PPM1D	OMIM:617450
HP:0100022	Abnormality of movement	8558	CDK10	OMIM:617694
HP:0100022	Abnormality of movement	6638	SNRPN	OMIM:105830
HP:0100022	Abnormality of movement	6638	SNRPN	ORPHA:411515
HP:0100022	Abnormality of movement	8936	WASF1	OMIM:618707
HP:0100022	Abnormality of movement	1298	COL9A2	OMIM:600204
HP:0100022	Abnormality of movement	9276	COPB2	OMIM:619884
HP:0100022	Abnormality of movement	53335	BCL11A	OMIM:617101
HP:0100022	Abnormality of movement	57688	ZSWIM6	OMIM:617865
HP:0100022	Abnormality of movement	93587	TRMT10A	ORPHA:391408
HP:0100022	Abnormality of movement	8241	RBM10	ORPHA:2886
HP:0100022	Abnormality of movement	1107	CHD3	OMIM:618205
HP:0100022	Abnormality of movement	96459	FNIP1	OMIM:619705
HP:0100022	Abnormality of movement	57194	ATP10A	ORPHA:411515
HP:0100022	Abnormality of movement	1959	EGR2	OMIM:145900
HP:0100022	Abnormality of movement	5728	PTEN	ORPHA:101070
HP:0100022	Abnormality of movement	51085	MLXIPL	OMIM:194050
HP:0100022	Abnormality of movement	4694	NDUFA1	OMIM:301020
HP:0100022	Abnormality of movement	1108	CHD4	OMIM:617159
HP:0100022	Abnormality of movement	84100	ARL6	OMIM:209900
HP:0100022	Abnormality of movement	79140	CCDC28B	OMIM:209900
HP:0100022	Abnormality of movement	582	BBS1	OMIM:209900
HP:0100022	Abnormality of movement	113278	SLC52A3	OMIM:211530
HP:0100022	Abnormality of movement	25923	ATL3	ORPHA:36386
HP:0100022	Abnormality of movement	9517	SPTLC2	ORPHA:36386
HP:0100022	Abnormality of movement	5091	PC	OMIM:266150
HP:0100022	Abnormality of movement	51501	HIKESHI	OMIM:616881
HP:0100022	Abnormality of movement	92609	TIMM50	OMIM:617698
HP:0100022	Abnormality of movement	92609	TIMM50	ORPHA:505216
HP:0100022	Abnormality of movement	84197	POMK	ORPHA:370959
HP:0100022	Abnormality of movement	3786	KCNQ3	ORPHA:1949
HP:0100022	Abnormality of movement	6536	SLC6A9	OMIM:617301
HP:0100022	Abnormality of movement	9440	MED17	OMIM:613668
HP:0100022	Abnormality of movement	4952	OCRL	ORPHA:534
HP:0100022	Abnormality of movement	11117	EMILIN1	OMIM:620080
HP:0100022	Abnormality of movement	819	CAMLG	OMIM:620201
HP:0100022	Abnormality of movement	4693	NDP	ORPHA:649
HP:0100022	Abnormality of movement	2801	GOLGA2	OMIM:620240
HP:0100022	Abnormality of movement	28962	OSTM1	OMIM:259720
HP:0100022	Abnormality of movement	23028	KDM1A	ORPHA:477993
HP:0100022	Abnormality of movement	7283	TUBG1	ORPHA:261183
HP:0100022	Abnormality of movement	81614	NIPA2	ORPHA:261183
HP:0100022	Abnormality of movement	4311	MME	OMIM:617018
HP:0100022	Abnormality of movement	775	CACNA1C	OMIM:620029
HP:0100022	Abnormality of movement	785	CACNB4	OMIM:613855
HP:0100022	Abnormality of movement	785	CACNB4	OMIM:607682
HP:0100022	Abnormality of movement	785	CACNB4	ORPHA:211067
HP:0100022	Abnormality of movement	27235	COQ2	OMIM:146500
HP:0100022	Abnormality of movement	27235	COQ2	OMIM:607426
HP:0100022	Abnormality of movement	27235	COQ2	ORPHA:98933
HP:0100022	Abnormality of movement	27235	COQ2	ORPHA:227510
HP:0100022	Abnormality of movement	10060	ABCC9	OMIM:619719
HP:0100022	Abnormality of movement	9227	LRAT	ORPHA:364055
HP:0100022	Abnormality of movement	55812	SPATA7	ORPHA:364055
HP:0100022	Abnormality of movement	6121	RPE65	ORPHA:364055
HP:0100022	Abnormality of movement	167691	LCA5	ORPHA:364055
HP:0100022	Abnormality of movement	5575	PRKAR1B	ORPHA:412066
HP:0100022	Abnormality of movement	7852	CXCR4	ORPHA:51636
HP:0100022	Abnormality of movement	5981	RFC1	OMIM:614575
HP:0100022	Abnormality of movement	4983	OPHN1	ORPHA:137831
HP:0100022	Abnormality of movement	7222	TRPC3	OMIM:616410
HP:0100022	Abnormality of movement	7222	TRPC3	ORPHA:458798
HP:0100022	Abnormality of movement	9711	RUBCN	ORPHA:404499
HP:0100022	Abnormality of movement	4081	MAB21L1	ORPHA:495875
HP:0100022	Abnormality of movement	5455	POU3F3	OMIM:618604
HP:0100022	Abnormality of movement	2146	EZH2	OMIM:277590
HP:0100022	Abnormality of movement	5167	ENPP1	ORPHA:758
HP:0100022	Abnormality of movement	368	ABCC6	ORPHA:758
HP:0100022	Abnormality of movement	2617	GARS1	OMIM:601472
HP:0100022	Abnormality of movement	26011	TENM4	OMIM:616736
HP:0100022	Abnormality of movement	4604	MYBPC1	OMIM:618524
HP:0100022	Abnormality of movement	51091	SEPSECS	ORPHA:2524
HP:0100022	Abnormality of movement	55605	KIF21A	ORPHA:994
HP:0100022	Abnormality of movement	4927	NUP88	ORPHA:994
HP:0100022	Abnormality of movement	7846	TUBA1A	ORPHA:994
HP:0100022	Abnormality of movement	4654	MYOD1	ORPHA:994
HP:0100022	Abnormality of movement	1272	CNTN1	OMIM:612540
HP:0100022	Abnormality of movement	8087	FXR1	OMIM:618822
HP:0100022	Abnormality of movement	55640	FLVCR2	OMIM:225790
HP:0100022	Abnormality of movement	1134	CHRNA1	OMIM:253290
HP:0100022	Abnormality of movement	1144	CHRND	OMIM:253290
HP:0100022	Abnormality of movement	80036	TRPM3	OMIM:620224
HP:0100022	Abnormality of movement	50	ACO2	OMIM:614559
HP:0100022	Abnormality of movement	5831	PYCR1	OMIM:614438
HP:0100022	Abnormality of movement	54820	NDE1	OMIM:605013
HP:0100022	Abnormality of movement	6833	ABCC8	OMIM:618857
HP:0100022	Abnormality of movement	26227	PHGDH	ORPHA:79351
HP:0100022	Abnormality of movement	10559	SLC35A1	OMIM:603585
HP:0100022	Abnormality of movement	64132	XYLT2	OMIM:605822
HP:0100022	Abnormality of movement	9853	RUSC2	OMIM:617773
HP:0100022	Abnormality of movement	8924	HERC2	OMIM:615516
HP:0100022	Abnormality of movement	123263	MTFMT	OMIM:614947
HP:0100022	Abnormality of movement	5457	POU4F1	ORPHA:314647
HP:0100022	Abnormality of movement	6442	SGCA	OMIM:608099
HP:0100022	Abnormality of movement	538	ATP7A	OMIM:300489
HP:0100022	Abnormality of movement	3145	HMBS	OMIM:620711
HP:0100022	Abnormality of movement	318	NUDT2	OMIM:619844
HP:0100022	Abnormality of movement	55163	PNPO	ORPHA:79096
HP:0100022	Abnormality of movement	55163	PNPO	OMIM:610090
HP:0100022	Abnormality of movement	8890	EIF2B4	OMIM:620314
HP:0100022	Abnormality of movement	8892	EIF2B2	OMIM:620312
HP:0100022	Abnormality of movement	10073	SNUPN	OMIM:620793
HP:0100022	Abnormality of movement	54344	DPM3	OMIM:612937
HP:0100022	Abnormality of movement	1725	DHPS	OMIM:618480
HP:0100022	Abnormality of movement	10735	STAG2	OMIM:301022
HP:0100022	Abnormality of movement	8888	MCM3AP	OMIM:618124
HP:0100022	Abnormality of movement	64919	BCL11B	OMIM:618092
HP:0100022	Abnormality of movement	56479	KCNQ5	OMIM:617601
HP:0100022	Abnormality of movement	492	ATP2B3	ORPHA:314978
HP:0100022	Abnormality of movement	492	ATP2B3	OMIM:302500
HP:0100022	Abnormality of movement	4247	MGAT2	OMIM:212066
HP:0100022	Abnormality of movement	121512	FGD4	OMIM:609311
HP:0100022	Abnormality of movement	2033	EP300	OMIM:180849
HP:0100022	Abnormality of movement	1387	CREBBP	OMIM:180849
HP:0100022	Abnormality of movement	8659	ALDH4A1	ORPHA:79101
HP:0100022	Abnormality of movement	22983	MAST1	OMIM:618273
HP:0100022	Abnormality of movement	54870	QRICH1	OMIM:617982
HP:0100022	Abnormality of movement	4076	CAPRIN1	OMIM:620636
HP:0100022	Abnormality of movement	10531	PITRM1	OMIM:619405
HP:0100022	Abnormality of movement	23162	MAPK8IP3	OMIM:618443
HP:0100022	Abnormality of movement	122622	ADSS1	ORPHA:482601
HP:0100022	Abnormality of movement	1384	CRAT	OMIM:617917
HP:0100022	Abnormality of movement	200403	VWA3B	OMIM:616948
HP:0100022	Abnormality of movement	340533	NEXMIF	ORPHA:1942
HP:0100022	Abnormality of movement	1106	CHD2	ORPHA:1942
HP:0100022	Abnormality of movement	6529	SLC6A1	ORPHA:1942
HP:0100022	Abnormality of movement	55690	PACS1	ORPHA:329224
HP:0100022	Abnormality of movement	8449	DHX16	OMIM:618733
HP:0100022	Abnormality of movement	7384	UQCRC1	OMIM:619279
HP:0100022	Abnormality of movement	5524	PTPA	OMIM:620482
HP:0100022	Abnormality of movement	1814	DRD3	OMIM:190300
HP:0100022	Abnormality of movement	2767	GNA11	ORPHA:428
HP:0100022	Abnormality of movement	8242	KDM5C	OMIM:300534
HP:0100022	Abnormality of movement	9217	VAPB	ORPHA:209335
HP:0100022	Abnormality of movement	10269	ZMPSTE24	ORPHA:740
HP:0100022	Abnormality of movement	85476	GFM1	OMIM:609060
HP:0100022	Abnormality of movement	79581	SLC52A2	OMIM:614707
HP:0100022	Abnormality of movement	100303755	PET117	OMIM:619063
HP:0100022	Abnormality of movement	8818	DPM2	OMIM:615042
HP:0100022	Abnormality of movement	440138	ALG11	ORPHA:280071
HP:0100022	Abnormality of movement	131377	KLHL40	ORPHA:171430
HP:0100022	Abnormality of movement	51025	PAM16	OMIM:613320
HP:0100022	Abnormality of movement	51021	MRPS16	OMIM:610498
HP:0100022	Abnormality of movement	4803	NGF	OMIM:608654
HP:0100022	Abnormality of movement	10058	ABCB6	OMIM:609153
HP:0100022	Abnormality of movement	2645	GCK	ORPHA:79299
HP:0100022	Abnormality of movement	5393	EXOSC9	OMIM:618065
HP:0100022	Abnormality of movement	7443	VRK1	OMIM:607596
HP:0100022	Abnormality of movement	2717	GLA	OMIM:301500
HP:0100022	Abnormality of movement	55681	SCYL2	ORPHA:1143
HP:0100022	Abnormality of movement	84570	COL25A1	ORPHA:1143
HP:0100022	Abnormality of movement	57222	ERGIC1	ORPHA:1143
HP:0100022	Abnormality of movement	51004	COQ6	ORPHA:93921
HP:0100022	Abnormality of movement	8216	LZTR1	ORPHA:93921
HP:0100022	Abnormality of movement	57128	LYRM4	OMIM:615595
HP:0100022	Abnormality of movement	5361	PLXNA1	OMIM:619955
HP:0100022	Abnormality of movement	285362	SUMF1	OMIM:272200
HP:0100022	Abnormality of movement	3930	LBR	OMIM:169400
HP:0100022	Abnormality of movement	8295	TRRAP	OMIM:618454
HP:0100022	Abnormality of movement	2752	GLUL	OMIM:610015
HP:0100022	Abnormality of movement	267	AMFR	OMIM:620379
HP:0100022	Abnormality of movement	487	ATP2A1	OMIM:601003
HP:0100022	Abnormality of movement	2934	GSN	ORPHA:85448
HP:0100022	Abnormality of movement	6647	SOD1	OMIM:618598
HP:0100022	Abnormality of movement	203190	LGI3	OMIM:620007
HP:0100022	Abnormality of movement	2774	GNAL	OMIM:615073
HP:0100022	Abnormality of movement	2774	GNAL	ORPHA:329466
HP:0100022	Abnormality of movement	58494	JAM2	OMIM:618824
HP:0100022	Abnormality of movement	347734	SLC35B2	OMIM:620269
HP:0100022	Abnormality of movement	55823	VPS11	OMIM:619637
HP:0100022	Abnormality of movement	1528	CYB5A	ORPHA:621
HP:0100022	Abnormality of movement	1727	CYB5R3	ORPHA:621
HP:0100022	Abnormality of movement	9690	UBE3C	OMIM:620270
HP:0100022	Abnormality of movement	26576	SRPK3	OMIM:301134
HP:0100022	Abnormality of movement	128486	FITM2	OMIM:618635
HP:0100022	Abnormality of movement	63982	ANO3	ORPHA:420485
HP:0100022	Abnormality of movement	116228	COX20	OMIM:619054
HP:0100022	Abnormality of movement	54112	GPR88	OMIM:616939
HP:0100022	Abnormality of movement	8260	NAA10	ORPHA:276432
HP:0100022	Abnormality of movement	10846	PDE10A	OMIM:616921
HP:0100022	Abnormality of movement	25914	RTTN	ORPHA:468631
HP:0100022	Abnormality of movement	10479	SLC9A6	OMIM:300243
HP:0100022	Abnormality of movement	10479	SLC9A6	ORPHA:85278
HP:0100022	Abnormality of movement	10730	YME1L1	OMIM:617302
HP:0100022	Abnormality of movement	816	CAMK2B	OMIM:617799
HP:0100022	Abnormality of movement	7915	ALDH5A1	OMIM:271980
HP:0100022	Abnormality of movement	53616	ADAM22	OMIM:617933
HP:0100022	Abnormality of movement	5339	PLEC	ORPHA:254361
HP:0100022	Abnormality of movement	3714	JAG2	OMIM:619566
HP:0100022	Abnormality of movement	8893	EIF2B5	OMIM:620315
HP:0100022	Abnormality of movement	8891	EIF2B3	OMIM:620313
HP:0100022	Abnormality of movement	4700	NDUFA6	OMIM:618253
HP:0100022	Abnormality of movement	9453	GGPS1	OMIM:619518
HP:0100022	Abnormality of movement	56983	POGLUT1	OMIM:617232
HP:0100022	Abnormality of movement	6240	RRM1	OMIM:620647
HP:0100022	Abnormality of movement	56945	MRPS22	OMIM:611719
HP:0100022	Abnormality of movement	644096	SDHAF1	OMIM:619166
HP:0100022	Abnormality of movement	79709	COLGALT1	OMIM:618360
HP:0100022	Abnormality of movement	22796	COG2	OMIM:617395
HP:0100022	Abnormality of movement	22796	COG2	ORPHA:435934
HP:0100022	Abnormality of movement	3796	KIF2A	OMIM:615411
HP:0100022	Abnormality of movement	4338	MOCS2	OMIM:252160
HP:0100022	Abnormality of movement	6905	TBCE	OMIM:617207
HP:0100022	Abnormality of movement	4990	SIX6	OMIM:206900
HP:0100022	Abnormality of movement	6657	SOX2	OMIM:206900
HP:0100022	Abnormality of movement	4337	MOCS1	OMIM:252150
HP:0100022	Abnormality of movement	3800	KIF5C	OMIM:615282
HP:0100022	Abnormality of movement	1284	COL4A2	OMIM:614483
HP:0100022	Abnormality of movement	120	ADD3	OMIM:617008
HP:0100022	Abnormality of movement	55770	EXOC2	OMIM:619306
HP:0100022	Abnormality of movement	10290	SPEG	ORPHA:169186
HP:0100022	Abnormality of movement	57190	SELENON	ORPHA:97244
HP:0100022	Abnormality of movement	91452	ACBD5	OMIM:618863
HP:0100022	Abnormality of movement	4593	MUSK	OMIM:616325
HP:0100022	Abnormality of movement	6606	SMN1	OMIM:271150
HP:0100022	Abnormality of movement	7109	TRAPPC10	OMIM:620027
HP:0100022	Abnormality of movement	10049	DNAJB6	OMIM:603511
HP:0100022	Abnormality of movement	1120	CHKB	OMIM:602541
HP:0100022	Abnormality of movement	1836	SLC26A2	ORPHA:93307
HP:0100022	Abnormality of movement	55033	FKBP14	OMIM:614557
HP:0100022	Abnormality of movement	9200	HACD1	OMIM:619967
HP:0100022	Abnormality of movement	1297	COL9A1	ORPHA:166002
HP:0100022	Abnormality of movement	1299	COL9A3	ORPHA:166002
HP:0100022	Abnormality of movement	7125	TNNC2	OMIM:620161
HP:0100022	Abnormality of movement	5251	PHEX	OMIM:307800
HP:0100022	Abnormality of movement	1300	COL10A1	ORPHA:174
HP:0100022	Abnormality of movement	1300	COL10A1	OMIM:156500
HP:0100022	Abnormality of movement	9469	CHST3	ORPHA:263463
HP:0100022	Abnormality of movement	9469	CHST3	OMIM:143095
HP:0100022	Abnormality of movement	7040	TGFB1	OMIM:131300
HP:0100022	Abnormality of movement	7040	TGFB1	ORPHA:1328
HP:0100022	Abnormality of movement	9581	PREPL	OMIM:616224
HP:0100022	Abnormality of movement	176	ACAN	OMIM:165800
HP:0100022	Abnormality of movement	9241	NOG	OMIM:186500
HP:0100022	Abnormality of movement	4620	MYH2	OMIM:605637
HP:0100022	Abnormality of movement	633	BGN	OMIM:300106
HP:0100022	Abnormality of movement	4041	LRP5	ORPHA:2788
HP:0100022	Abnormality of movement	3908	LAMA2	OMIM:618138
HP:0100022	Abnormality of movement	8425	LTBP4	ORPHA:98896
HP:0100022	Abnormality of movement	2335	FN1	OMIM:184255
HP:0100022	Abnormality of movement	388662	SLC6A17	ORPHA:457212
HP:0100022	Abnormality of movement	388662	SLC6A17	OMIM:616269
HP:0100022	Abnormality of movement	23126	POGZ	OMIM:616364
HP:0100022	Abnormality of movement	2588	GALNS	OMIM:253000
HP:0100022	Abnormality of movement	55325	UFSP2	OMIM:617974
HP:0100022	Abnormality of movement	4744	NEFH	OMIM:616924
HP:0100022	Abnormality of movement	8720	MBTPS1	OMIM:618392
HP:0100022	Abnormality of movement	8292	COLQ	ORPHA:98915
HP:0100022	Abnormality of movement	3913	LAMB2	ORPHA:98915
HP:0100022	Abnormality of movement	50485	SMARCAL1	OMIM:242900
HP:0100022	Abnormality of movement	124583	CANT1	OMIM:251450
HP:0100022	Abnormality of movement	3178	HNRNPA1	ORPHA:52430
HP:0100022	Abnormality of movement	3181	HNRNPA2B1	ORPHA:52430
HP:0100022	Abnormality of movement	5745	PTH1R	OMIM:156400
HP:0100022	Abnormality of movement	6569	SLC34A1	ORPHA:157215
HP:0100022	Abnormality of movement	249	ALPL	OMIM:241510
HP:0100022	Abnormality of movement	51776	MAP3K20	OMIM:617760
HP:0100022	Abnormality of movement	91252	SLC39A13	OMIM:612350
HP:0100022	Abnormality of movement	25886	POC1A	OMIM:614813
HP:0100022	Abnormality of movement	285489	DOK7	OMIM:254300
HP:0100022	Abnormality of movement	374393	FAM111B	OMIM:615704
HP:0100022	Abnormality of movement	5913	RAPSN	OMIM:616326
HP:0100022	Abnormality of movement	6418	SET	OMIM:618106
HP:0100022	Abnormality of movement	64208	POPDC3	OMIM:618848
HP:0100022	Abnormality of movement	5602	MAPK10	ORPHA:2382
HP:0100022	Abnormality of movement	89874	SLC25A21	OMIM:618811
HP:0100022	Abnormality of movement	57724	EPG5	OMIM:242840
HP:0100022	Abnormality of movement	5826	ABCD4	OMIM:614857
HP:0100022	Abnormality of movement	2137	EXTL3	ORPHA:508533
HP:0100022	Abnormality of movement	7355	SLC35A2	ORPHA:356961
HP:0100022	Abnormality of movement	57468	SLC12A5	ORPHA:293181
HP:0100022	Abnormality of movement	57468	SLC12A5	OMIM:616645
HP:0100022	Abnormality of movement	23236	PLCB1	ORPHA:293181
HP:0100022	Abnormality of movement	3190	HNRNPK	ORPHA:453504
HP:0100022	Abnormality of movement	3190	HNRNPK	ORPHA:352665
HP:0100022	Abnormality of movement	80816	ASXL3	OMIM:615485
HP:0100022	Abnormality of movement	80816	ASXL3	ORPHA:352577
HP:0100022	Abnormality of movement	6487	ST3GAL3	OMIM:615006
HP:0100022	Abnormality of movement	4010	LMX1B	ORPHA:495818
HP:0100022	Abnormality of movement	166378	AFG2A	OMIM:616577
HP:0100022	Abnormality of movement	166378	AFG2A	ORPHA:457351
HP:0100022	Abnormality of movement	65082	VPS33A	OMIM:617303
HP:0100022	Abnormality of movement	65082	VPS33A	ORPHA:505248
HP:0100022	Abnormality of movement	5689	PSMB1	OMIM:620038
HP:0100022	Abnormality of movement	7920	ABHD16A	OMIM:619735
HP:0100022	Abnormality of movement	85465	SELENOI	OMIM:618768
HP:0100022	Abnormality of movement	10716	TBR1	OMIM:606053
HP:0100022	Abnormality of movement	171023	ASXL1	ORPHA:97297
HP:0100022	Abnormality of movement	22872	SEC31A	OMIM:618651
HP:0100022	Abnormality of movement	1193	CLIC2	ORPHA:324410
HP:0100022	Abnormality of movement	84314	TMEM107	OMIM:617563
HP:0100022	Abnormality of movement	93627	TBCK	ORPHA:488632
HP:0100022	Abnormality of movement	28514	DLL1	ORPHA:93926
HP:0100022	Abnormality of movement	28514	DLL1	ORPHA:93924
HP:0100022	Abnormality of movement	28514	DLL1	ORPHA:93925
HP:0100022	Abnormality of movement	28514	DLL1	ORPHA:220386
HP:0100022	Abnormality of movement	6496	SIX3	ORPHA:93926
HP:0100022	Abnormality of movement	6496	SIX3	ORPHA:93924
HP:0100022	Abnormality of movement	6496	SIX3	ORPHA:93925
HP:0100022	Abnormality of movement	6496	SIX3	ORPHA:220386
HP:0100022	Abnormality of movement	4838	NODAL	ORPHA:93926
HP:0100022	Abnormality of movement	4838	NODAL	ORPHA:93924
HP:0100022	Abnormality of movement	4838	NODAL	ORPHA:93925
HP:0100022	Abnormality of movement	4838	NODAL	ORPHA:220386
HP:0100022	Abnormality of movement	6469	SHH	ORPHA:93926
HP:0100022	Abnormality of movement	6469	SHH	ORPHA:93924
HP:0100022	Abnormality of movement	6469	SHH	ORPHA:93925
HP:0100022	Abnormality of movement	6469	SHH	ORPHA:220386
HP:0100022	Abnormality of movement	7546	ZIC2	ORPHA:93926
HP:0100022	Abnormality of movement	7546	ZIC2	ORPHA:93924
HP:0100022	Abnormality of movement	7546	ZIC2	ORPHA:93925
HP:0100022	Abnormality of movement	7546	ZIC2	ORPHA:220386
HP:0100022	Abnormality of movement	6491	STIL	ORPHA:93926
HP:0100022	Abnormality of movement	6491	STIL	ORPHA:93924
HP:0100022	Abnormality of movement	6491	STIL	ORPHA:93925
HP:0100022	Abnormality of movement	6491	STIL	ORPHA:220386
HP:0100022	Abnormality of movement	2619	GAS1	ORPHA:93926
HP:0100022	Abnormality of movement	2619	GAS1	ORPHA:93924
HP:0100022	Abnormality of movement	2619	GAS1	ORPHA:93925
HP:0100022	Abnormality of movement	2619	GAS1	ORPHA:220386
HP:0100022	Abnormality of movement	84976	DISP1	ORPHA:93926
HP:0100022	Abnormality of movement	84976	DISP1	ORPHA:93924
HP:0100022	Abnormality of movement	84976	DISP1	ORPHA:93925
HP:0100022	Abnormality of movement	84976	DISP1	ORPHA:220386
HP:0100022	Abnormality of movement	2736	GLI2	ORPHA:93926
HP:0100022	Abnormality of movement	2736	GLI2	ORPHA:93924
HP:0100022	Abnormality of movement	2736	GLI2	ORPHA:93925
HP:0100022	Abnormality of movement	2736	GLI2	ORPHA:220386
HP:0100022	Abnormality of movement	8928	FOXH1	ORPHA:93926
HP:0100022	Abnormality of movement	8928	FOXH1	ORPHA:93924
HP:0100022	Abnormality of movement	8928	FOXH1	ORPHA:93925
HP:0100022	Abnormality of movement	8928	FOXH1	ORPHA:220386
HP:0100022	Abnormality of movement	6997	CRIPTO	ORPHA:93926
HP:0100022	Abnormality of movement	6997	CRIPTO	ORPHA:93924
HP:0100022	Abnormality of movement	6997	CRIPTO	ORPHA:93925
HP:0100022	Abnormality of movement	6997	CRIPTO	ORPHA:220386
HP:0100022	Abnormality of movement	5727	PTCH1	ORPHA:93926
HP:0100022	Abnormality of movement	5727	PTCH1	ORPHA:93924
HP:0100022	Abnormality of movement	5727	PTCH1	ORPHA:93925
HP:0100022	Abnormality of movement	5727	PTCH1	ORPHA:220386
HP:0100022	Abnormality of movement	50937	CDON	ORPHA:93926
HP:0100022	Abnormality of movement	50937	CDON	ORPHA:93924
HP:0100022	Abnormality of movement	50937	CDON	ORPHA:93925
HP:0100022	Abnormality of movement	50937	CDON	ORPHA:220386
HP:0100022	Abnormality of movement	23007	PLCH1	ORPHA:93925
HP:0100022	Abnormality of movement	55361	PI4K2A	OMIM:620732
HP:0100022	Abnormality of movement	4534	MTM1	ORPHA:596
HP:0100022	Abnormality of movement	9354	UBE4A	OMIM:619639
HP:0100022	Abnormality of movement	116115	ZNF526	OMIM:619877
HP:0100022	Abnormality of movement	83475	DOHH	OMIM:620066
HP:0100022	Abnormality of movement	6609	SMPD1	OMIM:257200
HP:0100022	Abnormality of movement	5700	PSMC1	OMIM:620071
HP:0100022	Abnormality of movement	197258	FCSK	OMIM:618324
HP:0100022	Abnormality of movement	50628	GEMIN4	OMIM:617913
HP:0100022	Abnormality of movement	4556	MT-TE	ORPHA:2596
HP:0100022	Abnormality of movement	58497	PRUNE1	OMIM:617481
HP:0100022	Abnormality of movement	58497	PRUNE1	ORPHA:544469
HP:0100022	Abnormality of movement	55656	INTS8	OMIM:618572
HP:0100022	Abnormality of movement	51693	TRAPPC2L	OMIM:618331
HP:0100022	Abnormality of movement	4208	MEF2C	OMIM:613443
HP:0100022	Abnormality of movement	7407	VARS1	OMIM:617802
HP:0100022	Abnormality of movement	10695	CNPY3	OMIM:617929
HP:0100022	Abnormality of movement	30000	TNPO2	OMIM:619556
HP:0100022	Abnormality of movement	116461	TSEN15	OMIM:617026
HP:0100022	Abnormality of movement	5010	CLDN11	OMIM:619328
HP:0100022	Abnormality of movement	443	ASPA	ORPHA:314911
HP:0100022	Abnormality of movement	161725	OTUD7A	OMIM:620790
HP:0100022	Abnormality of movement	25929	GEMIN5	OMIM:619333
HP:0100022	Abnormality of movement	56915	EXOSC5	OMIM:619576
HP:0100022	Abnormality of movement	7965	AIMP2	OMIM:618006
HP:0100022	Abnormality of movement	1781	DYNC1I2	OMIM:618492
HP:0100022	Abnormality of movement	84188	FAR1	ORPHA:438178
HP:0100022	Abnormality of movement	128637	TBC1D20	OMIM:615663
HP:0100022	Abnormality of movement	6304	SATB1	OMIM:619229
HP:0100022	Abnormality of movement	54551	MAGEL2	OMIM:615547
HP:0100022	Abnormality of movement	22931	RAB18	OMIM:614222
HP:0100022	Abnormality of movement	85440	DOCK7	ORPHA:411986
HP:0100022	Abnormality of movement	56270	WDR45B	OMIM:617977
HP:0100022	Abnormality of movement	246329	STAC3	ORPHA:168572
HP:0100022	Abnormality of movement	26503	SLC17A5	OMIM:604369
HP:0100022	Abnormality of movement	9325	TRIP4	OMIM:617066
HP:0100022	Abnormality of movement	79143	MBOAT7	OMIM:617188
HP:0100022	Abnormality of movement	1806	DPYD	ORPHA:1675
HP:0100022	Abnormality of movement	2893	GRIA4	OMIM:617864
HP:0100022	Abnormality of movement	6509	SLC1A4	OMIM:616657
HP:0100022	Abnormality of movement	8911	CACNA1I	OMIM:620114
HP:0100022	Abnormality of movement	84628	NTNG2	OMIM:618718
HP:0100022	Abnormality of movement	2806	GOT2	OMIM:618721
HP:0100022	Abnormality of movement	25913	POT1	OMIM:620368
HP:0100022	Abnormality of movement	5479	PPIB	OMIM:259440
HP:0100022	Abnormality of movement	56947	MFF	OMIM:617086
HP:0100022	Abnormality of movement	1496	CTNNA2	OMIM:618174
HP:0100022	Abnormality of movement	55753	OGDHL	OMIM:619701
HP:0100022	Abnormality of movement	9990	SLC12A6	OMIM:218000
HP:0100022	Abnormality of movement	9725	TMEM63A	OMIM:618688
HP:0100022	Abnormality of movement	284217	LAMA1	ORPHA:370022
HP:0100022	Abnormality of movement	6786	STIM1	OMIM:160565
HP:0100022	Abnormality of movement	50717	DCAF8	OMIM:610100
HP:0100022	Abnormality of movement	55775	TDP1	ORPHA:94124
HP:0100022	Abnormality of movement	55775	TDP1	OMIM:607250
HP:0100022	Abnormality of movement	7879	RAB7A	OMIM:600882
HP:0100022	Abnormality of movement	476	ATP1A1	OMIM:618036
HP:0100022	Abnormality of movement	23095	KIF1B	OMIM:118210
HP:0100022	Abnormality of movement	90678	LRSAM1	OMIM:614436
HP:0100022	Abnormality of movement	8148	TAF15	ORPHA:803
HP:0100022	Abnormality of movement	5445	PON2	ORPHA:803
HP:0100022	Abnormality of movement	5630	PRPH	ORPHA:803
HP:0100022	Abnormality of movement	29110	TBK1	ORPHA:803
HP:0100022	Abnormality of movement	55830	GLT8D1	ORPHA:803
HP:0100022	Abnormality of movement	755	CFAP410	ORPHA:803
HP:0100022	Abnormality of movement	10891	PPARGC1A	ORPHA:803
HP:0100022	Abnormality of movement	10133	OPTN	ORPHA:803
HP:0100022	Abnormality of movement	5444	PON1	ORPHA:803
HP:0100022	Abnormality of movement	5446	PON3	ORPHA:803
HP:0100022	Abnormality of movement	5216	PFN1	ORPHA:803
HP:0100022	Abnormality of movement	283	ANG	ORPHA:803
HP:0100022	Abnormality of movement	23435	TARDBP	ORPHA:803
HP:0100022	Abnormality of movement	4750	NEK1	ORPHA:803
HP:0100022	Abnormality of movement	1610	DAO	ORPHA:803
HP:0100022	Abnormality of movement	2066	ERBB4	ORPHA:803
HP:0100022	Abnormality of movement	311	ANXA11	ORPHA:803
HP:0100022	Abnormality of movement	23025	UNC13A	ORPHA:803
HP:0100022	Abnormality of movement	59345	GNB4	OMIM:615185
HP:0100022	Abnormality of movement	64423	INF2	OMIM:614455
HP:0100022	Abnormality of movement	1337	COX6A1	OMIM:616039
HP:0100022	Abnormality of movement	50846	DHH	ORPHA:168563
HP:0100022	Abnormality of movement	23474	ETHE1	OMIM:602473
HP:0100022	Abnormality of movement	6611	SMS	ORPHA:3063
HP:0100022	Abnormality of movement	9213	XPR1	OMIM:616413
HP:0100022	Abnormality of movement	23499	MACF1	ORPHA:572013
HP:0100022	Abnormality of movement	23499	MACF1	OMIM:618325
HP:0100022	Abnormality of movement	387119	CEP85L	ORPHA:572013
HP:0100022	Abnormality of movement	2898	GRIK2	OMIM:611092
HP:0100022	Abnormality of movement	5119	CHMP1A	OMIM:614961
HP:0100022	Abnormality of movement	815	CAMK2A	OMIM:617798
HP:0100022	Abnormality of movement	2778	GNAS	ORPHA:79443
HP:0100022	Abnormality of movement	1137	CHRNA4	ORPHA:98784
HP:0100022	Abnormality of movement	57010	CABP4	ORPHA:98784
HP:0100022	Abnormality of movement	1141	CHRNB2	ORPHA:98784
HP:0100022	Abnormality of movement	57582	KCNT1	ORPHA:98784
HP:0100022	Abnormality of movement	1392	CRH	ORPHA:98784
HP:0100022	Abnormality of movement	9681	DEPDC5	ORPHA:98784
HP:0100022	Abnormality of movement	114034	TOE1	ORPHA:284339
HP:0100022	Abnormality of movement	9562	MINPP1	ORPHA:284339
HP:0100022	Abnormality of movement	3980	LIG3	OMIM:619780
HP:0100022	Abnormality of movement	7543	ZFX	OMIM:301118
HP:0100022	Abnormality of movement	8492	PRSS12	OMIM:249500
HP:0100022	Abnormality of movement	3977	LIFR	OMIM:601559
HP:0100022	Abnormality of movement	3977	LIFR	ORPHA:3206
HP:0100022	Abnormality of movement	2554	GABRA1	ORPHA:64280
HP:0100022	Abnormality of movement	8912	CACNA1H	ORPHA:64280
HP:0100022	Abnormality of movement	8629	JRK	ORPHA:64280
HP:0100022	Abnormality of movement	51604	PIGT	ORPHA:369837
HP:0100022	Abnormality of movement	22858	CILK1	ORPHA:307
HP:0100022	Abnormality of movement	38	ACAT1	ORPHA:134
HP:0100022	Abnormality of movement	1807	DPYS	OMIM:222748
HP:0100022	Abnormality of movement	203228	C9orf72	OMIM:105550
HP:0100022	Abnormality of movement	60	ACTB	ORPHA:79107
HP:0100022	Abnormality of movement	60	ACTB	OMIM:607371
HP:0100022	Abnormality of movement	64432	MRPS25	OMIM:619025
HP:0100022	Abnormality of movement	4695	NDUFA2	OMIM:618235
HP:0100022	Abnormality of movement	51506	UFC1	OMIM:618076
HP:0100022	Abnormality of movement	3475	IFRD1	ORPHA:98771
HP:0100022	Abnormality of movement	899	CCNF	OMIM:619141
HP:0100022	Abnormality of movement	56006	SMG9	OMIM:619995
HP:0100022	Abnormality of movement	9900	SV2A	OMIM:620772
HP:0100022	Abnormality of movement	10079	ATP9A	OMIM:620242
HP:0100022	Abnormality of movement	10165	SLC25A13	ORPHA:247585
HP:0100022	Abnormality of movement	5205	ATP8B1	ORPHA:69665
HP:0100022	Abnormality of movement	8647	ABCB11	ORPHA:69665
HP:0100022	Abnormality of movement	5244	ABCB4	ORPHA:69665
HP:0100022	Abnormality of movement	9971	NR1H4	ORPHA:69665
HP:0100022	Abnormality of movement	1512	CTSH	ORPHA:2073
HP:0100022	Abnormality of movement	5032	P2RY11	ORPHA:2073
HP:0100022	Abnormality of movement	4340	MOG	ORPHA:2073
HP:0100022	Abnormality of movement	3060	HCRT	ORPHA:2073
HP:0100022	Abnormality of movement	22891	ZNF365	ORPHA:2073
HP:0100022	Abnormality of movement	7555	CNBP	ORPHA:606
HP:0100022	Abnormality of movement	83550	GPR101	ORPHA:963
HP:0100022	Abnormality of movement	9049	AIP	ORPHA:963
HP:0100022	Abnormality of movement	1719	DHFR	OMIM:613839
HP:0100022	Abnormality of movement	2200	FBN1	OMIM:614185
HP:0100022	Abnormality of movement	3032	HADHB	ORPHA:746
HP:0100022	Abnormality of movement	3030	HADHA	ORPHA:746
HP:0100022	Abnormality of movement	11011	TLK2	OMIM:618050
HP:0100022	Abnormality of movement	55181	SMG8	OMIM:619268
HP:0100022	Abnormality of movement	9531	BAG3	OMIM:612954
HP:0100022	Abnormality of movement	6874	TAF4	OMIM:620450
HP:0100022	Abnormality of movement	4128	MAOA	OMIM:300615
HP:0100022	Abnormality of movement	63929	XPNPEP3	OMIM:613159
HP:0100022	Abnormality of movement	84274	COQ5	OMIM:619028
HP:0100022	Abnormality of movement	182	JAG1	OMIM:619574
HP:0100022	Abnormality of movement	65217	PCDH15	OMIM:602083
HP:0100022	Abnormality of movement	5351	PLOD1	ORPHA:1900
HP:0100022	Abnormality of movement	55343	SLC35C1	ORPHA:99843
HP:0100022	Abnormality of movement	4613	MYCN	ORPHA:635
HP:0100022	Abnormality of movement	238	ALK	ORPHA:635
HP:0100022	Abnormality of movement	389421	LIN28B	ORPHA:635
HP:0100022	Abnormality of movement	4004	LMO1	ORPHA:635
HP:0100022	Abnormality of movement	8929	PHOX2B	ORPHA:635
HP:0100022	Abnormality of movement	5741	PTH	OMIM:146200
HP:0100022	Abnormality of movement	27327	TNRC6A	OMIM:618074
HP:0100022	Abnormality of movement	9693	RAPGEF2	OMIM:618075
HP:0100022	Abnormality of movement	9573	GDF3	ORPHA:2345
HP:0100022	Abnormality of movement	392255	GDF6	ORPHA:2345
HP:0100022	Abnormality of movement	4222	MEOX1	ORPHA:2345
HP:0100022	Abnormality of movement	776	CACNA1D	OMIM:615474
HP:0100022	Abnormality of movement	776	CACNA1D	ORPHA:369929
HP:0100022	Abnormality of movement	57680	CHD8	OMIM:615032
HP:0100022	Abnormality of movement	26053	AUTS2	OMIM:615834
HP:0100022	Abnormality of movement	26053	AUTS2	ORPHA:352490
HP:0100022	Abnormality of movement	51692	CPSF3	OMIM:619876
HP:0100022	Abnormality of movement	4897	NRCAM	OMIM:619833
HP:0100022	Abnormality of movement	3425	IDUA	ORPHA:93474
HP:0100022	Abnormality of movement	3425	IDUA	ORPHA:93473
HP:0100022	Abnormality of movement	1776	DNASE1L3	ORPHA:36412
HP:0100022	Abnormality of movement	51611	DPH5	OMIM:620070
HP:0100022	Abnormality of movement	51633	OTUD6B	ORPHA:505237
HP:0100022	Abnormality of movement	1841	DTYMK	OMIM:619847
HP:0100022	Abnormality of movement	23291	FBXW11	OMIM:618914
HP:0100022	Abnormality of movement	2811	GP1BA	ORPHA:853
HP:0100022	Abnormality of movement	2812	GP1BB	ORPHA:853
HP:0100022	Abnormality of movement	3674	ITGA2B	ORPHA:853
HP:0100022	Abnormality of movement	3673	ITGA2	ORPHA:853
HP:0100022	Abnormality of movement	135228	CD109	ORPHA:853
HP:0100022	Abnormality of movement	3690	ITGB3	ORPHA:853
HP:0100022	Abnormality of movement	5624	PROC	OMIM:612304
HP:0100022	Abnormality of movement	23189	KANK1	OMIM:612900
HP:0100022	Abnormality of movement	84081	NSRP1	OMIM:620001
HP:0100022	Abnormality of movement	3248	HPGD	ORPHA:2796
HP:0100022	Abnormality of movement	6578	SLCO2A1	ORPHA:2796
HP:0100022	Abnormality of movement	4860	PNP	ORPHA:760
HP:0100022	Abnormality of movement	8884	SLC5A6	OMIM:618973
HP:0100022	Abnormality of movement	1641	DCX	ORPHA:2148
HP:0100022	Abnormality of movement	23152	CIC	OMIM:617600
HP:0100022	Abnormality of movement	3418	IDH2	ORPHA:163634
HP:0100022	Abnormality of movement	3417	IDH1	ORPHA:163634
HP:0100022	Abnormality of movement	27145	FILIP1	OMIM:620775
HP:0100022	Abnormality of movement	5092	PCBD1	ORPHA:1578
HP:0100022	Abnormality of movement	4558	MT-TF	ORPHA:551
HP:0100022	Abnormality of movement	4567	MT-TL1	ORPHA:551
HP:0100022	Abnormality of movement	4549	MT-RNR1	ORPHA:551
HP:0100022	Abnormality of movement	4574	MT-TS1	ORPHA:551
HP:0100022	Abnormality of movement	4575	MT-TS2	ORPHA:551
HP:0100022	Abnormality of movement	4571	MT-TP	ORPHA:551
HP:0100022	Abnormality of movement	4572	MT-TQ	ORPHA:551
HP:0100022	Abnormality of movement	4540	MT-ND5	ORPHA:551
HP:0100022	Abnormality of movement	4566	MT-TK	ORPHA:551
HP:0100022	Abnormality of movement	4564	MT-TH	ORPHA:551
HP:0100022	Abnormality of movement	5888	RAD51	ORPHA:238722
HP:0100022	Abnormality of movement	10126	DNAL4	ORPHA:238722
HP:0100022	Abnormality of movement	9423	NTN1	ORPHA:238722
HP:0100022	Abnormality of movement	1630	DCC	ORPHA:238722
HP:0100022	Abnormality of movement	113235	SLC46A1	ORPHA:90045
HP:0100022	Abnormality of movement	347733	TUBB2B	ORPHA:1766
HP:0100022	Abnormality of movement	7436	VLDLR	ORPHA:1766
HP:0100022	Abnormality of movement	124997	WDR81	ORPHA:1766
HP:0100022	Abnormality of movement	51761	ATP8A2	ORPHA:1766
HP:0100022	Abnormality of movement	767	CA8	ORPHA:1766
HP:0100022	Abnormality of movement	5428	POLG	ORPHA:94125
HP:0100022	Abnormality of movement	5428	POLG	ORPHA:726
HP:0100022	Abnormality of movement	10312	TCIRG1	ORPHA:667
HP:0100022	Abnormality of movement	1186	CLCN7	ORPHA:667
HP:0100022	Abnormality of movement	29887	SNX10	ORPHA:667
HP:0100022	Abnormality of movement	8600	TNFSF11	ORPHA:667
HP:0100022	Abnormality of movement	6792	CDKL5	ORPHA:3095
HP:0100022	Abnormality of movement	22854	NTNG1	ORPHA:3095
HP:0100022	Abnormality of movement	9568	GABBR2	ORPHA:3095
HP:0100022	Abnormality of movement	4204	MECP2	ORPHA:3095
HP:0100022	Abnormality of movement	8243	SMC1A	ORPHA:3095
HP:0100022	Abnormality of movement	4967	OGDH	ORPHA:31
HP:0100022	Abnormality of movement	2593	GAMT	ORPHA:382
HP:0100022	Abnormality of movement	10157	AASS	ORPHA:2203
HP:0100022	Abnormality of movement	4552	MTRR	ORPHA:2169
HP:0100022	Abnormality of movement	100996717	NOTCH2NLC	ORPHA:2289
HP:0100022	Abnormality of movement	4758	NEU1	ORPHA:812
HP:0100022	Abnormality of movement	7337	UBE3A	ORPHA:98794
HP:0100022	Abnormality of movement	7337	UBE3A	ORPHA:411511
HP:0100022	Abnormality of movement	4948	OCA2	ORPHA:98794
HP:0100022	Abnormality of movement	3736	KCNA1	ORPHA:972
HP:0100022	Abnormality of movement	1185	CLCN6	OMIM:619173
HP:0100022	Abnormality of movement	1757	SARDH	ORPHA:3129
HP:0100022	Abnormality of movement	9326	ZNHIT3	ORPHA:2836
HP:0100022	Abnormality of movement	5080	PAX6	ORPHA:1065
HP:0100022	Abnormality of movement	3708	ITPR1	ORPHA:1065
HP:0100022	Abnormality of movement	56652	TWNK	ORPHA:1186
HP:0100022	Abnormality of movement	546	ATRX	ORPHA:847
HP:0100022	Abnormality of movement	100506658	OCLN	ORPHA:1229
HP:0100022	Abnormality of movement	22	ABCB7	OMIM:301310
HP:0100022	Abnormality of movement	10943	MSL3	OMIM:301032
HP:0100022	Abnormality of movement	2743	GLRB	ORPHA:3197
HP:0100022	Abnormality of movement	2741	GLRA1	ORPHA:3197
HP:0100022	Abnormality of movement	10243	GPHN	ORPHA:3197
HP:0100022	Abnormality of movement	84896	ATAD1	ORPHA:3197
HP:0100022	Abnormality of movement	9152	SLC6A5	ORPHA:3197
HP:0100022	Abnormality of movement	10815	CPLX1	ORPHA:280
HP:0100022	Abnormality of movement	54872	PIGG	ORPHA:280
HP:0100022	Abnormality of movement	7469	NELFA	ORPHA:280
HP:0100022	Abnormality of movement	1487	CTBP1	ORPHA:280
HP:0100022	Abnormality of movement	3954	LETM1	ORPHA:280
HP:0100022	Abnormality of movement	7468	NSD2	ORPHA:280
HP:0100022	Abnormality of movement	10352	WARS2	ORPHA:572798
HP:0100022	Abnormality of movement	57338	JPH3	ORPHA:98934
HP:0100022	Abnormality of movement	4644	MYO5A	ORPHA:79476
HP:0100022	Abnormality of movement	4644	MYO5A	ORPHA:33445
HP:0100022	Abnormality of movement	3251	HPRT1	ORPHA:510
HP:0100022	Abnormality of movement	8622	PDE8B	ORPHA:228169
HP:0100022	Abnormality of movement	55768	NGLY1	OMIM:615273
HP:0100022	Abnormality of movement	6711	SPTBN1	OMIM:619475
HP:0100022	Abnormality of movement	116442	RAB39B	ORPHA:2379
HP:0100022	Abnormality of movement	9894	TELO2	ORPHA:488642
HP:0100022	Abnormality of movement	9894	TELO2	OMIM:616954
HP:0100022	Abnormality of movement	6513	SLC2A1	ORPHA:168577
HP:0100022	Abnormality of movement	7305	TYROBP	ORPHA:2770
HP:0100022	Abnormality of movement	54209	TREM2	ORPHA:2770
HP:0100022	Abnormality of movement	148789	B3GALNT2	ORPHA:588
HP:0100022	Abnormality of movement	29925	GMPPB	ORPHA:588
HP:0100022	Abnormality of movement	79147	FKRP	ORPHA:588
HP:0100022	Abnormality of movement	9215	LARGE1	ORPHA:588
HP:0100022	Abnormality of movement	29954	POMT2	ORPHA:588
HP:0100022	Abnormality of movement	2218	FKTN	ORPHA:588
HP:0100022	Abnormality of movement	729920	CRPPA	ORPHA:588
HP:0100022	Abnormality of movement	55624	POMGNT1	ORPHA:588
HP:0100022	Abnormality of movement	10585	POMT1	ORPHA:588
HP:0100022	Abnormality of movement	10128	LRPPRC	ORPHA:70472
HP:0100022	Abnormality of movement	1130	LYST	ORPHA:352723
HP:0100022	Abnormality of movement	472	ATM	ORPHA:100
HP:0100022	Abnormality of movement	9829	DNAJC6	ORPHA:391411
HP:0100022	Abnormality of movement	5420	PODXL	ORPHA:391411
HP:0100022	Abnormality of movement	8867	SYNJ1	ORPHA:391411
HP:0100022	Abnormality of movement	80055	PGAP1	ORPHA:401820
HP:0100022	Abnormality of movement	2232	FDXR	ORPHA:543470
HP:0100022	Abnormality of movement	3028	HSD17B10	ORPHA:85295
HP:0100022	Abnormality of movement	55906	ZC4H2	ORPHA:3454
HP:0100022	Abnormality of movement	6785	ELOVL4	ORPHA:1955
HP:0100022	Abnormality of movement	25782	RAB3GAP2	ORPHA:401830
HP:0100022	Abnormality of movement	5610	EIF2AK2	ORPHA:256
HP:0100022	Abnormality of movement	1861	TOR1A	ORPHA:256
HP:0100022	Abnormality of movement	55164	SHQ1	ORPHA:256
HP:0100022	Abnormality of movement	55670	PEX26	ORPHA:44
HP:0100022	Abnormality of movement	5824	PEX19	ORPHA:44
HP:0100022	Abnormality of movement	5828	PEX2	ORPHA:44
HP:0100022	Abnormality of movement	8504	PEX3	ORPHA:44
HP:0100022	Abnormality of movement	9409	PEX16	ORPHA:44
HP:0100022	Abnormality of movement	5190	PEX6	ORPHA:44
HP:0100022	Abnormality of movement	8799	PEX11B	ORPHA:44
HP:0100022	Abnormality of movement	5830	PEX5	ORPHA:44
HP:0100022	Abnormality of movement	5189	PEX1	ORPHA:44
HP:0100022	Abnormality of movement	5193	PEX12	ORPHA:44
HP:0100022	Abnormality of movement	5194	PEX13	ORPHA:44
HP:0100022	Abnormality of movement	5195	PEX14	ORPHA:44
HP:0100022	Abnormality of movement	5192	PEX10	ORPHA:44
HP:0100022	Abnormality of movement	4141	MARS1	ORPHA:401835
HP:0100022	Abnormality of movement	27249	MMADHC	ORPHA:79283
HP:0100022	Abnormality of movement	4621	MYH3	ORPHA:2990
HP:0100022	Abnormality of movement	1146	CHRNG	ORPHA:2990
HP:0100022	Abnormality of movement	111	ADCY5	ORPHA:1429
HP:0100022	Abnormality of movement	7080	NKX2-1	ORPHA:1429
HP:0100022	Abnormality of movement	51663	ZFR	ORPHA:401840
HP:0100022	Abnormality of movement	56922	MCCC1	ORPHA:6
HP:0100022	Abnormality of movement	64087	MCCC2	ORPHA:6
HP:0100022	Abnormality of movement	367	AR	ORPHA:481
HP:0100022	Abnormality of movement	65250	CPLANE1	ORPHA:65684
HP:0100022	Abnormality of movement	57562	CEP126	ORPHA:65684
HP:0100022	Abnormality of movement	2902	GRIN1	ORPHA:208447
HP:0100022	Abnormality of movement	4594	MMUT	ORPHA:79312
HP:0100022	Abnormality of movement	1119	CHKA	OMIM:620023
HP:0100022	Abnormality of movement	8675	STX16	ORPHA:94089
HP:0100022	Abnormality of movement	1654	DDX3X	ORPHA:457260
HP:0100022	Abnormality of movement	1654	DDX3X	OMIM:300958
HP:0100022	Abnormality of movement	1353	COX11	OMIM:620275
HP:0100022	Abnormality of movement	51079	NDUFA13	OMIM:618249
HP:0100022	Abnormality of movement	6821	SUOX	OMIM:272300
HP:0100022	Abnormality of movement	175	AGA	ORPHA:93
HP:0100022	Abnormality of movement	64374	SIL1	ORPHA:559
HP:0100022	Abnormality of movement	285175	UNC80	OMIM:616801
HP:0100022	Abnormality of movement	285175	UNC80	ORPHA:371364
HP:0100022	Abnormality of movement	259232	NALCN	ORPHA:371364
HP:0100022	Abnormality of movement	25814	ATXN10	ORPHA:98761
HP:0100022	Abnormality of movement	90522	YIF1B	OMIM:619125
HP:0100022	Abnormality of movement	2562	GABRB3	OMIM:617113
HP:0100022	Abnormality of movement	4724	NDUFS4	OMIM:252010
HP:0100022	Abnormality of movement	29960	MRM2	OMIM:618567
HP:0100022	Abnormality of movement	64802	NMNAT1	OMIM:619260
HP:0100022	Abnormality of movement	26100	WIPI2	OMIM:618453
HP:0100022	Abnormality of movement	1468	SLC25A10	OMIM:618972
HP:0100022	Abnormality of movement	22868	FASTKD2	OMIM:618855
HP:0100022	Abnormality of movement	90417	KNSTRN	OMIM:613328
HP:0100022	Abnormality of movement	5293	PIK3CD	OMIM:613328
HP:0100022	Abnormality of movement	3704	ITPA	OMIM:616647
HP:0100022	Abnormality of movement	9578	CDC42BPB	OMIM:619841
HP:0100022	Abnormality of movement	11280	SCN11A	ORPHA:90026
HP:0100022	Abnormality of movement	6336	SCN10A	ORPHA:90026
HP:0001337	Tremor	401474	SAMD12	OMIM:601068
HP:0001337	Tremor	10749	KIF1C	ORPHA:397946
HP:0001337	Tremor	10749	KIF1C	OMIM:611302
HP:0001337	Tremor	7528	YY1	ORPHA:506358
HP:0001337	Tremor	7528	YY1	OMIM:617557
HP:0001337	Tremor	7528	YY1	ORPHA:97279
HP:0001337	Tremor	55703	POLR3B	OMIM:614381
HP:0001337	Tremor	55703	POLR3B	OMIM:607694
HP:0001337	Tremor	60684	TRAPPC11	OMIM:615356
HP:0001337	Tremor	4860	PNP	OMIM:613179
HP:0001337	Tremor	1161	ERCC8	ORPHA:90321
HP:0001337	Tremor	1161	ERCC8	OMIM:216400
HP:0001337	Tremor	2072	ERCC4	ORPHA:90321
HP:0001337	Tremor	2072	ERCC4	OMIM:278760
HP:0001337	Tremor	2074	ERCC6	ORPHA:90321
HP:0001337	Tremor	2074	ERCC6	OMIM:133540
HP:0001337	Tremor	5631	PRPS1	ORPHA:99014
HP:0001337	Tremor	1639	DCTN1	ORPHA:178509
HP:0001337	Tremor	1639	DCTN1	OMIM:168605
HP:0001337	Tremor	3074	HEXB	ORPHA:309169
HP:0001337	Tremor	65993	MRPS34	OMIM:617664
HP:0001337	Tremor	8722	CTSF	OMIM:615362
HP:0001337	Tremor	1644	DDC	ORPHA:35708
HP:0001337	Tremor	56997	COQ8A	ORPHA:139485
HP:0001337	Tremor	56997	COQ8A	OMIM:612016
HP:0001337	Tremor	23322	RPGRIP1L	ORPHA:220497
HP:0001337	Tremor	23322	RPGRIP1L	ORPHA:1454
HP:0001337	Tremor	4867	NPHP1	ORPHA:220497
HP:0001337	Tremor	65062	TMEM237	ORPHA:220497
HP:0001337	Tremor	65062	TMEM237	ORPHA:475
HP:0001337	Tremor	101060691	NUTM2B-AS1	OMIM:618637
HP:0001337	Tremor	55689	YEATS2	OMIM:615127
HP:0001337	Tremor	4137	MAPT	ORPHA:240085
HP:0001337	Tremor	4137	MAPT	ORPHA:240071
HP:0001337	Tremor	4137	MAPT	OMIM:601104
HP:0001337	Tremor	4137	MAPT	ORPHA:240103
HP:0001337	Tremor	4137	MAPT	OMIM:260540
HP:0001337	Tremor	4137	MAPT	OMIM:168600
HP:0001337	Tremor	472	ATM	OMIM:208900
HP:0001337	Tremor	472	ATM	ORPHA:100
HP:0001337	Tremor	54806	AHI1	ORPHA:220493
HP:0001337	Tremor	54806	AHI1	ORPHA:475
HP:0001337	Tremor	56623	INPP5E	ORPHA:220493
HP:0001337	Tremor	56623	INPP5E	ORPHA:475
HP:0001337	Tremor	56623	INPP5E	ORPHA:1454
HP:0001337	Tremor	153241	CEP120	ORPHA:220493
HP:0001337	Tremor	153241	CEP120	ORPHA:475
HP:0001337	Tremor	54903	MKS1	ORPHA:220493
HP:0001337	Tremor	54903	MKS1	ORPHA:475
HP:0001337	Tremor	95681	CEP41	ORPHA:220493
HP:0001337	Tremor	95681	CEP41	ORPHA:475
HP:0001337	Tremor	5610	EIF2AK2	OMIM:618877
HP:0001337	Tremor	100996717	NOTCH2NLC	OMIM:603472
HP:0001337	Tremor	100996717	NOTCH2NLC	OMIM:619473
HP:0001337	Tremor	23400	ATP13A2	ORPHA:314632
HP:0001337	Tremor	23400	ATP13A2	OMIM:606693
HP:0001337	Tremor	7054	TH	OMIM:605407
HP:0001337	Tremor	60482	SLC5A7	OMIM:158580
HP:0001337	Tremor	51816	ADA2	OMIM:182410
HP:0001337	Tremor	51816	ADA2	ORPHA:820
HP:0001337	Tremor	1600	DAB1	ORPHA:363710
HP:0001337	Tremor	1600	DAB1	OMIM:615945
HP:0001337	Tremor	5832	ALDH18A1	OMIM:616586
HP:0001337	Tremor	5832	ALDH18A1	ORPHA:447753
HP:0001337	Tremor	55154	MSTO1	OMIM:617675
HP:0001337	Tremor	55154	MSTO1	ORPHA:502423
HP:0001337	Tremor	103	ADAR	OMIM:615010
HP:0001337	Tremor	103	ADAR	ORPHA:51
HP:0001337	Tremor	64834	ELOVL1	OMIM:618527
HP:0001337	Tremor	9692	PRORP	OMIM:619737
HP:0001337	Tremor	10352	WARS2	OMIM:619738
HP:0001337	Tremor	10352	WARS2	ORPHA:572798
HP:0001337	Tremor	10352	WARS2	OMIM:617710
HP:0001337	Tremor	3064	HTT	OMIM:617435
HP:0001337	Tremor	1130	LYST	ORPHA:167
HP:0001337	Tremor	1130	LYST	OMIM:214500
HP:0001337	Tremor	9217	VAPB	ORPHA:209335
HP:0001337	Tremor	9217	VAPB	OMIM:182980
HP:0001337	Tremor	6872	TAF1	ORPHA:480907
HP:0001337	Tremor	6872	TAF1	OMIM:314250
HP:0001337	Tremor	6872	TAF1	OMIM:300966
HP:0001337	Tremor	54968	TMEM70	OMIM:614052
HP:0001337	Tremor	83636	C19orf12	OMIM:614298
HP:0001337	Tremor	54840	APTX	OMIM:208920
HP:0001337	Tremor	54832	VPS13C	ORPHA:2828
HP:0001337	Tremor	11315	PARK7	ORPHA:2828
HP:0001337	Tremor	7345	UCHL1	ORPHA:2828
HP:0001337	Tremor	27429	HTRA2	ORPHA:2828
HP:0001337	Tremor	27429	HTRA2	OMIM:617248
HP:0001337	Tremor	27429	HTRA2	OMIM:610297
HP:0001337	Tremor	120892	LRRK2	ORPHA:2828
HP:0001337	Tremor	9829	DNAJC6	ORPHA:2828
HP:0001337	Tremor	6622	SNCA	ORPHA:2828
HP:0001337	Tremor	5420	PODXL	ORPHA:2828
HP:0001337	Tremor	65018	PINK1	ORPHA:2828
HP:0001337	Tremor	8867	SYNJ1	ORPHA:2828
HP:0001337	Tremor	8867	SYNJ1	ORPHA:442835
HP:0001337	Tremor	8867	SYNJ1	OMIM:615530
HP:0001337	Tremor	5071	PRKN	ORPHA:2828
HP:0001337	Tremor	5071	PRKN	OMIM:600116
HP:0001337	Tremor	3737	KCNA2	ORPHA:442835
HP:0001337	Tremor	3737	KCNA2	OMIM:616366
HP:0001337	Tremor	1759	DNM1	ORPHA:442835
HP:0001337	Tremor	8120	AP3B2	ORPHA:442835
HP:0001337	Tremor	523	ATP6V1A	ORPHA:442835
HP:0001337	Tremor	10991	SLC38A3	ORPHA:442835
HP:0001337	Tremor	51343	FZR1	ORPHA:442835
HP:0001337	Tremor	3747	KCNC2	ORPHA:442835
HP:0001337	Tremor	1917	EEF1A2	ORPHA:442835
HP:0001337	Tremor	23219	FBXO28	ORPHA:442835
HP:0001337	Tremor	2561	GABRB2	ORPHA:442835
HP:0001337	Tremor	8831	SYNGAP1	ORPHA:442835
HP:0001337	Tremor	8831	SYNGAP1	ORPHA:1942
HP:0001337	Tremor	8831	SYNGAP1	ORPHA:544254
HP:0001337	Tremor	2558	GABRA5	ORPHA:442835
HP:0001337	Tremor	2906	GRIN2D	ORPHA:442835
HP:0001337	Tremor	2906	GRIN2D	OMIM:617162
HP:0001337	Tremor	116150	NUS1	ORPHA:442835
HP:0001337	Tremor	116150	NUS1	OMIM:617831
HP:0001337	Tremor	1213	CLTC	ORPHA:442835
HP:0001337	Tremor	51741	WWOX	ORPHA:442835
HP:0001337	Tremor	23334	SZT2	ORPHA:442835
HP:0001337	Tremor	348980	HCN1	ORPHA:442835
HP:0001337	Tremor	348980	HCN1	ORPHA:36387
HP:0001337	Tremor	25977	NECAP1	ORPHA:442835
HP:0001337	Tremor	23241	PACS2	ORPHA:442835
HP:0001337	Tremor	16	AARS1	ORPHA:442835
HP:0001337	Tremor	6334	SCN8A	ORPHA:442835
HP:0001337	Tremor	9568	GABBR2	ORPHA:442835
HP:0001337	Tremor	9568	GABBR2	ORPHA:3095
HP:0001337	Tremor	2555	GABRA2	ORPHA:442835
HP:0001337	Tremor	55152	DALRD3	ORPHA:442835
HP:0001337	Tremor	26999	CYFIP2	ORPHA:442835
HP:0001337	Tremor	4915	NTRK2	ORPHA:442835
HP:0001337	Tremor	25973	PARS2	ORPHA:442835
HP:0001337	Tremor	23097	CDK19	ORPHA:442835
HP:0001337	Tremor	2257	FGF12	ORPHA:442835
HP:0001337	Tremor	5530	PPP3CA	ORPHA:442835
HP:0001337	Tremor	478	ATP1A3	ORPHA:442835
HP:0001337	Tremor	478	ATP1A3	OMIM:128235
HP:0001337	Tremor	478	ATP1A3	ORPHA:2131
HP:0001337	Tremor	22906	TRAK1	ORPHA:442835
HP:0001337	Tremor	2566	GABRG2	ORPHA:442835
HP:0001337	Tremor	2566	GABRG2	ORPHA:36387
HP:0001337	Tremor	7532	YWHAG	ORPHA:442835
HP:0001337	Tremor	79876	UBA5	ORPHA:442835
HP:0001337	Tremor	6328	SCN3A	ORPHA:442835
HP:0001337	Tremor	781	CACNA2D1	ORPHA:442835
HP:0001337	Tremor	10659	CELF2	ORPHA:442835
HP:0001337	Tremor	10659	CELF2	OMIM:619561
HP:0001337	Tremor	774	CACNA1B	ORPHA:442835
HP:0001337	Tremor	51412	ACTL6B	ORPHA:442835
HP:0001337	Tremor	2290	FOXG1	ORPHA:442835
HP:0001337	Tremor	6506	SLC1A2	ORPHA:442835
HP:0001337	Tremor	477	ATP1A2	ORPHA:442835
HP:0001337	Tremor	477	ATP1A2	OMIM:602481
HP:0001337	Tremor	477	ATP1A2	ORPHA:2131
HP:0001337	Tremor	3745	KCNB1	ORPHA:442835
HP:0001337	Tremor	284111	SLC13A5	ORPHA:442835
HP:0001337	Tremor	22866	CNKSR2	ORPHA:442835
HP:0001337	Tremor	773	CACNA1A	ORPHA:442835
HP:0001337	Tremor	773	CACNA1A	OMIM:617106
HP:0001337	Tremor	773	CACNA1A	ORPHA:2131
HP:0001337	Tremor	773	CACNA1A	OMIM:141500
HP:0001337	Tremor	6323	SCN1A	ORPHA:442835
HP:0001337	Tremor	6323	SCN1A	ORPHA:1942
HP:0001337	Tremor	6323	SCN1A	ORPHA:36387
HP:0001337	Tremor	79947	DHDDS	ORPHA:442835
HP:0001337	Tremor	79947	DHDDS	OMIM:617836
HP:0001337	Tremor	5373	PMM2	OMIM:212065
HP:0001337	Tremor	9851	KIAA0753	ORPHA:475
HP:0001337	Tremor	9851	KIAA0753	ORPHA:2754
HP:0001337	Tremor	5147	PDE6D	ORPHA:475
HP:0001337	Tremor	5147	PDE6D	ORPHA:2754
HP:0001337	Tremor	79600	TCTN1	ORPHA:475
HP:0001337	Tremor	79848	CSPP1	ORPHA:475
HP:0001337	Tremor	8481	OFD1	ORPHA:475
HP:0001337	Tremor	8481	OFD1	ORPHA:2750
HP:0001337	Tremor	8481	OFD1	ORPHA:2754
HP:0001337	Tremor	51684	SUFU	ORPHA:475
HP:0001337	Tremor	65250	CPLANE1	ORPHA:475
HP:0001337	Tremor	65250	CPLANE1	ORPHA:65684
HP:0001337	Tremor	65250	CPLANE1	ORPHA:2754
HP:0001337	Tremor	91147	TMEM67	ORPHA:475
HP:0001337	Tremor	91147	TMEM67	ORPHA:1454
HP:0001337	Tremor	200894	ARL13B	ORPHA:475
HP:0001337	Tremor	9731	CEP104	ORPHA:475
HP:0001337	Tremor	219844	HYLS1	ORPHA:475
HP:0001337	Tremor	23247	KATNIP	ORPHA:475
HP:0001337	Tremor	219854	TMEM218	ORPHA:475
HP:0001337	Tremor	9786	KIAA0586	ORPHA:475
HP:0001337	Tremor	26123	TCTN3	ORPHA:475
HP:0001337	Tremor	26123	TCTN3	ORPHA:2754
HP:0001337	Tremor	79867	TCTN2	ORPHA:475
HP:0001337	Tremor	80776	B9D2	ORPHA:475
HP:0001337	Tremor	10464	PIBF1	ORPHA:475
HP:0001337	Tremor	80210	ARMC9	ORPHA:475
HP:0001337	Tremor	23116	TOGARAM1	ORPHA:475
HP:0001337	Tremor	25776	CBY1	ORPHA:475
HP:0001337	Tremor	27077	B9D1	ORPHA:475
HP:0001337	Tremor	403	ARL3	ORPHA:475
HP:0001337	Tremor	80173	IFT74	ORPHA:475
HP:0001337	Tremor	8398	PLA2G6	ORPHA:199351
HP:0001337	Tremor	8398	PLA2G6	OMIM:612953
HP:0001337	Tremor	9131	AIFM1	ORPHA:101078
HP:0001337	Tremor	9131	AIFM1	ORPHA:83629
HP:0001337	Tremor	54902	TTC19	OMIM:615157
HP:0001337	Tremor	7428	VHL	ORPHA:29072
HP:0001337	Tremor	7428	VHL	ORPHA:276621
HP:0001337	Tremor	1743	DLST	ORPHA:29072
HP:0001337	Tremor	4191	MDH2	ORPHA:29072
HP:0001337	Tremor	5979	RET	ORPHA:29072
HP:0001337	Tremor	5979	RET	ORPHA:276621
HP:0001337	Tremor	6389	SDHA	ORPHA:29072
HP:0001337	Tremor	23095	KIF1B	ORPHA:29072
HP:0001337	Tremor	2271	FH	ORPHA:29072
HP:0001337	Tremor	8402	SLC25A11	ORPHA:29072
HP:0001337	Tremor	54949	SDHAF2	ORPHA:29072
HP:0001337	Tremor	55654	TMEM127	ORPHA:29072
HP:0001337	Tremor	4763	NF1	ORPHA:29072
HP:0001337	Tremor	6391	SDHC	ORPHA:29072
HP:0001337	Tremor	6392	SDHD	ORPHA:29072
HP:0001337	Tremor	6392	SDHD	ORPHA:276621
HP:0001337	Tremor	6390	SDHB	ORPHA:29072
HP:0001337	Tremor	6390	SDHB	ORPHA:276621
HP:0001337	Tremor	4149	MAX	ORPHA:29072
HP:0001337	Tremor	7701	ZNF142	OMIM:618425
HP:0001337	Tremor	2643	GCH1	OMIM:233910
HP:0001337	Tremor	2705	GJB1	ORPHA:101075
HP:0001337	Tremor	2705	GJB1	OMIM:302800
HP:0001337	Tremor	100134444	KCNJ18	ORPHA:79102
HP:0001337	Tremor	100134444	KCNJ18	OMIM:613239
HP:0001337	Tremor	2556	GABRA3	ORPHA:79102
HP:0001337	Tremor	779	CACNA1S	ORPHA:79102
HP:0001337	Tremor	166785	MMAA	OMIM:251100
HP:0001337	Tremor	4644	MYO5A	ORPHA:33445
HP:0001337	Tremor	9533	POLR1C	OMIM:616494
HP:0001337	Tremor	8733	GPAA1	ORPHA:529665
HP:0001337	Tremor	8733	GPAA1	OMIM:617810
HP:0001337	Tremor	5205	ATP8B1	ORPHA:69665
HP:0001337	Tremor	8647	ABCB11	ORPHA:69665
HP:0001337	Tremor	5244	ABCB4	ORPHA:69665
HP:0001337	Tremor	9971	NR1H4	ORPHA:69665
HP:0001337	Tremor	4076	CAPRIN1	OMIM:620636
HP:0001337	Tremor	400916	CHCHD10	OMIM:615048
HP:0001337	Tremor	400916	CHCHD10	ORPHA:276435
HP:0001337	Tremor	10342	TFG	ORPHA:90117
HP:0001337	Tremor	1356	CP	ORPHA:48818
HP:0001337	Tremor	111	ADCY5	OMIM:619647
HP:0001337	Tremor	111	ADCY5	OMIM:619651
HP:0001337	Tremor	10531	PITRM1	OMIM:619405
HP:0001337	Tremor	146227	BEAN1	ORPHA:217012
HP:0001337	Tremor	540	ATP7B	OMIM:277900
HP:0001337	Tremor	540	ATP7B	ORPHA:905
HP:0001337	Tremor	23556	PIGN	OMIM:614080
HP:0001337	Tremor	23556	PIGN	ORPHA:280633
HP:0001337	Tremor	5354	PLP1	OMIM:312080
HP:0001337	Tremor	388662	SLC6A17	OMIM:616269
HP:0001337	Tremor	2678	GGT1	OMIM:231950
HP:0001337	Tremor	6843	VAMP1	ORPHA:251282
HP:0001337	Tremor	6513	SLC2A1	ORPHA:1942
HP:0001337	Tremor	6513	SLC2A1	OMIM:612126
HP:0001337	Tremor	1173	AP2M1	ORPHA:1942
HP:0001337	Tremor	1173	AP2M1	OMIM:618587
HP:0001337	Tremor	340533	NEXMIF	ORPHA:1942
HP:0001337	Tremor	1106	CHD2	ORPHA:1942
HP:0001337	Tremor	6529	SLC6A1	ORPHA:1942
HP:0001337	Tremor	6529	SLC6A1	OMIM:616421
HP:0001337	Tremor	6812	STXBP1	ORPHA:599373
HP:0001337	Tremor	6812	STXBP1	OMIM:612164
HP:0001337	Tremor	10533	ATG7	OMIM:619422
HP:0001337	Tremor	4509	MT-ATP8	ORPHA:480
HP:0001337	Tremor	4567	MT-TL1	ORPHA:480
HP:0001337	Tremor	50484	RRM2B	ORPHA:480
HP:0001337	Tremor	50484	RRM2B	ORPHA:254892
HP:0001337	Tremor	81570	CLPB	OMIM:616271
HP:0001337	Tremor	4633	MYL2	OMIM:619424
HP:0001337	Tremor	6792	CDKL5	ORPHA:1934
HP:0001337	Tremor	6792	CDKL5	ORPHA:3095
HP:0001337	Tremor	3736	KCNA1	ORPHA:1934
HP:0001337	Tremor	3736	KCNA1	OMIM:160120
HP:0001337	Tremor	9091	PIGQ	ORPHA:1934
HP:0001337	Tremor	140679	SLC32A1	ORPHA:1934
HP:0001337	Tremor	2775	GNAO1	ORPHA:1934
HP:0001337	Tremor	81603	TRIM8	ORPHA:1934
HP:0001337	Tremor	2902	GRIN1	ORPHA:1934
HP:0001337	Tremor	79751	SLC25A22	ORPHA:1934
HP:0001337	Tremor	150094	SIK1	ORPHA:1934
HP:0001337	Tremor	8573	CASK	ORPHA:1934
HP:0001337	Tremor	23312	DMXL2	ORPHA:1934
HP:0001337	Tremor	2917	GRM7	ORPHA:1934
HP:0001337	Tremor	170302	ARX	ORPHA:1934
HP:0001337	Tremor	11284	PNKP	ORPHA:1934
HP:0001337	Tremor	6326	SCN2A	ORPHA:1934
HP:0001337	Tremor	6326	SCN2A	ORPHA:36387
HP:0001337	Tremor	51227	PIGP	ORPHA:1934
HP:0001337	Tremor	6324	SCN1B	ORPHA:1934
HP:0001337	Tremor	6324	SCN1B	ORPHA:36387
HP:0001337	Tremor	4761	NEUROD2	ORPHA:1934
HP:0001337	Tremor	4001	LMNB1	ORPHA:99027
HP:0001337	Tremor	2260	FGFR1	ORPHA:478
HP:0001337	Tremor	10371	SEMA3A	ORPHA:478
HP:0001337	Tremor	81848	SPRY4	ORPHA:478
HP:0001337	Tremor	23767	FLRT3	ORPHA:478
HP:0001337	Tremor	128674	PROKR2	ORPHA:478
HP:0001337	Tremor	79625	NDNF	ORPHA:478
HP:0001337	Tremor	2253	FGF8	ORPHA:478
HP:0001337	Tremor	389549	FEZF1	ORPHA:478
HP:0001337	Tremor	1630	DCC	ORPHA:478
HP:0001337	Tremor	3730	ANOS1	ORPHA:478
HP:0001337	Tremor	54756	IL17RD	ORPHA:478
HP:0001337	Tremor	6663	SOX10	ORPHA:478
HP:0001337	Tremor	6663	SOX10	ORPHA:163746
HP:0001337	Tremor	285025	CCDC141	ORPHA:478
HP:0001337	Tremor	60675	PROK2	ORPHA:478
HP:0001337	Tremor	55636	CHD7	ORPHA:478
HP:0001337	Tremor	1848	DUSP6	ORPHA:478
HP:0001337	Tremor	6870	TACR3	ORPHA:478
HP:0001337	Tremor	55717	WDR11	ORPHA:478
HP:0001337	Tremor	9394	HS6ST1	ORPHA:478
HP:0001337	Tremor	8820	HESX1	ORPHA:478
HP:0001337	Tremor	8822	FGF17	ORPHA:478
HP:0001337	Tremor	435	ASL	ORPHA:23
HP:0001337	Tremor	2639	GCDH	ORPHA:25
HP:0001337	Tremor	291	SLC25A4	ORPHA:254892
HP:0001337	Tremor	5428	POLG	ORPHA:254892
HP:0001337	Tremor	5428	POLG	ORPHA:254881
HP:0001337	Tremor	56652	TWNK	ORPHA:254892
HP:0001337	Tremor	11232	POLG2	ORPHA:254892
HP:0001337	Tremor	353116	RILPL1	OMIM:619790
HP:0001337	Tremor	10059	DNM1L	ORPHA:330050
HP:0001337	Tremor	6134	RPL10	OMIM:300998
HP:0001337	Tremor	23013	SPEN	OMIM:619312
HP:0001337	Tremor	30000	TNPO2	OMIM:619556
HP:0001337	Tremor	23516	SLC39A14	OMIM:617013
HP:0001337	Tremor	23516	SLC39A14	ORPHA:521406
HP:0001337	Tremor	54517	PUS7	OMIM:618342
HP:0001337	Tremor	4311	MME	OMIM:617018
HP:0001337	Tremor	1798	DPAGT1	OMIM:608093
HP:0001337	Tremor	1798	DPAGT1	ORPHA:86309
HP:0001337	Tremor	84320	ACBD6	OMIM:620785
HP:0001337	Tremor	27235	COQ2	OMIM:146500
HP:0001337	Tremor	27235	COQ2	OMIM:607426
HP:0001337	Tremor	10102	TSFM	OMIM:610505
HP:0001337	Tremor	10312	TCIRG1	ORPHA:667
HP:0001337	Tremor	1186	CLCN7	ORPHA:667
HP:0001337	Tremor	29887	SNX10	ORPHA:667
HP:0001337	Tremor	8600	TNFSF11	ORPHA:667
HP:0001337	Tremor	3208	HPCA	ORPHA:99657
HP:0001337	Tremor	3208	HPCA	OMIM:224500
HP:0001337	Tremor	123606	NIPA1	OMIM:600363
HP:0001337	Tremor	5575	PRKAR1B	OMIM:619680
HP:0001337	Tremor	22854	NTNG1	ORPHA:3095
HP:0001337	Tremor	4204	MECP2	ORPHA:3095
HP:0001337	Tremor	4204	MECP2	ORPHA:3077
HP:0001337	Tremor	4204	MECP2	OMIM:300055
HP:0001337	Tremor	8243	SMC1A	ORPHA:3095
HP:0001337	Tremor	2581	GALC	ORPHA:206443
HP:0001337	Tremor	3712	IVD	ORPHA:33
HP:0001337	Tremor	440193	CCDC88C	OMIM:616053
HP:0001337	Tremor	8878	SQSTM1	OMIM:617145
HP:0001337	Tremor	11152	WDR45	ORPHA:329284
HP:0001337	Tremor	11152	WDR45	OMIM:300894
HP:0001337	Tremor	427	ASAH1	OMIM:159950
HP:0001337	Tremor	427	ASAH1	ORPHA:2590
HP:0001337	Tremor	7337	UBE3A	ORPHA:98794
HP:0001337	Tremor	4948	OCA2	ORPHA:98794
HP:0001337	Tremor	1491	CTH	ORPHA:212
HP:0001337	Tremor	51132	RLIM	OMIM:300978
HP:0001337	Tremor	182	JAG1	OMIM:619574
HP:0001337	Tremor	3746	KCNC1	OMIM:616187
HP:0001337	Tremor	8622	PDE8B	OMIM:609161
HP:0001337	Tremor	400569	MED11	OMIM:620327
HP:0001337	Tremor	23203	PMPCA	OMIM:213200
HP:0001337	Tremor	23203	PMPCA	ORPHA:1170
HP:0001337	Tremor	6898	TAT	ORPHA:28378
HP:0001337	Tremor	3172	HNF4A	ORPHA:263455
HP:0001337	Tremor	8091	HMGA2	ORPHA:94063
HP:0001337	Tremor	23592	LEMD3	ORPHA:94063
HP:0001337	Tremor	55630	SLC39A4	OMIM:201100
HP:0001337	Tremor	9757	KMT2B	OMIM:617284
HP:0001337	Tremor	9758	FRMPD4	OMIM:300983
HP:0001337	Tremor	6304	SATB1	OMIM:619229
HP:0001337	Tremor	57187	THOC2	ORPHA:457240
HP:0001337	Tremor	57187	THOC2	OMIM:300957
HP:0001337	Tremor	6697	SPR	OMIM:612716
HP:0001337	Tremor	6697	SPR	ORPHA:70594
HP:0001337	Tremor	84065	TMEM222	OMIM:619470
HP:0001337	Tremor	65260	COA7	OMIM:618387
HP:0001337	Tremor	10846	PDE10A	ORPHA:494526
HP:0001337	Tremor	10846	PDE10A	OMIM:616921
HP:0001337	Tremor	9927	MFN2	OMIM:609260
HP:0001337	Tremor	4221	MEN1	ORPHA:97279
HP:0001337	Tremor	7204	TRIO	OMIM:617061
HP:0001337	Tremor	7204	TRIO	ORPHA:476126
HP:0001337	Tremor	128240	NAXE	OMIM:617186
HP:0001337	Tremor	4841	NONO	OMIM:300967
HP:0001337	Tremor	8450	CUL4B	ORPHA:85293
HP:0001337	Tremor	8450	CUL4B	OMIM:300354
HP:0001337	Tremor	2593	GAMT	OMIM:612736
HP:0001337	Tremor	1650	DDOST	ORPHA:300536
HP:0001337	Tremor	1493	CTLA4	ORPHA:3162
HP:0001337	Tremor	940	CD28	ORPHA:3162
HP:0001337	Tremor	7133	TNFRSF1B	ORPHA:3162
HP:0001337	Tremor	5805	PTS	OMIM:261640
HP:0001337	Tremor	6571	SLC18A2	OMIM:618049
HP:0001337	Tremor	6571	SLC18A2	ORPHA:352649
HP:0001337	Tremor	727676	SNORD118	ORPHA:542310
HP:0001337	Tremor	727676	SNORD118	OMIM:614561
HP:0001337	Tremor	55074	OXR1	OMIM:213000
HP:0001337	Tremor	1678	TIMM8A	ORPHA:52368
HP:0001337	Tremor	1678	TIMM8A	OMIM:304700
HP:0001337	Tremor	5860	QDPR	OMIM:261630
HP:0001337	Tremor	84274	COQ5	OMIM:619028
HP:0001337	Tremor	57562	CEP126	ORPHA:65684
HP:0001337	Tremor	8910	SGCE	OMIM:159900
HP:0001337	Tremor	221927	BRAT1	OMIM:618056
HP:0001337	Tremor	4287	ATXN3	OMIM:168600
HP:0001337	Tremor	2629	GBA1	OMIM:168600
HP:0001337	Tremor	126	ADH1C	OMIM:168600
HP:0001337	Tremor	4576	MT-TT	OMIM:168600
HP:0001337	Tremor	9627	SNCAIP	OMIM:168600
HP:0001337	Tremor	6908	TBP	OMIM:168600
HP:0001337	Tremor	4929	NR4A2	OMIM:168600
HP:0001337	Tremor	6311	ATXN2	OMIM:168600
HP:0001337	Tremor	6315	ATXN8OS	OMIM:168600
HP:0001337	Tremor	6315	ATXN8OS	OMIM:608768
HP:0001337	Tremor	10299	MARCHF6	OMIM:613608
HP:0001337	Tremor	9898	UBAP2L	OMIM:620494
HP:0001337	Tremor	60481	ELOVL5	ORPHA:423296
HP:0001337	Tremor	60481	ELOVL5	OMIM:615957
HP:0001337	Tremor	6095	RORA	OMIM:618060
HP:0001337	Tremor	5621	PRNP	ORPHA:282166
HP:0001337	Tremor	5621	PRNP	OMIM:137440
HP:0001337	Tremor	10128	LRPPRC	OMIM:220111
HP:0001337	Tremor	5376	PMP22	OMIM:118300
HP:0001337	Tremor	123263	MTFMT	OMIM:614947
HP:0001337	Tremor	80207	OPA3	OMIM:165300
HP:0001337	Tremor	64324	NSD1	ORPHA:821
HP:0001337	Tremor	10297	APC2	ORPHA:821
HP:0001337	Tremor	9690	UBE3C	OMIM:620270
HP:0001337	Tremor	23600	AMACR	ORPHA:79095
HP:0001337	Tremor	23600	AMACR	OMIM:614307
HP:0001337	Tremor	2911	GRM1	OMIM:614831
HP:0001337	Tremor	4758	NEU1	ORPHA:812
HP:0001337	Tremor	26580	BSCL2	OMIM:615924
HP:0001337	Tremor	26580	BSCL2	ORPHA:363400
HP:0001337	Tremor	55157	DARS2	ORPHA:137898
HP:0001337	Tremor	55157	DARS2	OMIM:611105
HP:0001337	Tremor	5173	PDYN	OMIM:610245
HP:0001337	Tremor	6575	SLC20A2	OMIM:213600
HP:0001337	Tremor	5159	PDGFRB	OMIM:213600
HP:0001337	Tremor	5155	PDGFB	OMIM:213600
HP:0001337	Tremor	1788	DNMT3A	ORPHA:276621
HP:0001337	Tremor	2034	EPAS1	ORPHA:276621
HP:0001337	Tremor	29967	LRP12	OMIM:164310
HP:0001337	Tremor	10157	AASS	ORPHA:3124
HP:0001337	Tremor	10157	AASS	ORPHA:2203
HP:0001337	Tremor	7276	TTR	OMIM:105210
HP:0001337	Tremor	10273	STUB1	OMIM:618093
HP:0001337	Tremor	10273	STUB1	OMIM:615768
HP:0001337	Tremor	7274	TTPA	ORPHA:96
HP:0001337	Tremor	7466	WFS1	OMIM:222300
HP:0001337	Tremor	80856	LNPK	OMIM:618090
HP:0001337	Tremor	10382	TUBB4A	OMIM:612438
HP:0001337	Tremor	5230	PGK1	ORPHA:713
HP:0001337	Tremor	144165	PRICKLE1	OMIM:612437
HP:0001337	Tremor	6335	SCN9A	ORPHA:36387
HP:0001337	Tremor	112755	STX1B	ORPHA:36387
HP:0001337	Tremor	2563	GABRD	ORPHA:36387
HP:0001337	Tremor	112476	PRRT2	ORPHA:36387
HP:0001337	Tremor	2258	FGF13	ORPHA:36387
HP:0001337	Tremor	84059	ADGRV1	ORPHA:36387
HP:0001337	Tremor	339453	TMEM240	ORPHA:98773
HP:0001337	Tremor	2512	FTL	OMIM:606159
HP:0001337	Tremor	1727	CYB5R3	OMIM:250800
HP:0001337	Tremor	5828	PEX2	OMIM:614867
HP:0001337	Tremor	6804	STX1A	ORPHA:904
HP:0001337	Tremor	7461	CLIP2	ORPHA:904
HP:0001337	Tremor	84277	DNAJC30	ORPHA:904
HP:0001337	Tremor	8468	FKBP6	ORPHA:904
HP:0001337	Tremor	5982	RFC2	ORPHA:904
HP:0001337	Tremor	2969	GTF2I	ORPHA:904
HP:0001337	Tremor	3984	LIMK1	ORPHA:904
HP:0001337	Tremor	9569	GTF2IRD1	ORPHA:904
HP:0001337	Tremor	155382	VPS37D	ORPHA:904
HP:0001337	Tremor	155368	METTL27	ORPHA:904
HP:0001337	Tremor	114049	BUD23	ORPHA:904
HP:0001337	Tremor	7458	EIF4H	ORPHA:904
HP:0001337	Tremor	84163	GTF2IRD2	ORPHA:904
HP:0001337	Tremor	26608	TBL2	ORPHA:904
HP:0001337	Tremor	653361	NCF1	ORPHA:904
HP:0001337	Tremor	135886	TMEM270	ORPHA:904
HP:0001337	Tremor	9031	BAZ1B	ORPHA:904
HP:0001337	Tremor	2006	ELN	ORPHA:904
HP:0001337	Tremor	2073	ERCC5	OMIM:278780
HP:0001337	Tremor	6507	SLC1A3	ORPHA:2131
HP:0001337	Tremor	5582	PRKCG	ORPHA:98763
HP:0001337	Tremor	2259	FGF14	ORPHA:98764
HP:0001337	Tremor	80025	PANK2	OMIM:234200
HP:0001337	Tremor	80025	PANK2	ORPHA:216873
HP:0001337	Tremor	3708	ITPR1	OMIM:117360
HP:0001337	Tremor	3708	ITPR1	OMIM:606658
HP:0001337	Tremor	11128	POLR3A	ORPHA:3455
HP:0001337	Tremor	11128	POLR3A	OMIM:607694
HP:0001337	Tremor	5092	PCBD1	OMIM:264070
HP:0001337	Tremor	5092	PCBD1	ORPHA:1578
HP:0001337	Tremor	4677	NARS1	OMIM:619092
HP:0001337	Tremor	8813	DPM1	OMIM:608799
HP:0001337	Tremor	9147	NEMF	OMIM:619099
HP:0001337	Tremor	7415	VCP	ORPHA:329478
HP:0001337	Tremor	340024	SLC6A19	ORPHA:2116
HP:0001337	Tremor	57393	CLTRN	ORPHA:2116
HP:0001337	Tremor	10165	SLC25A13	ORPHA:247585
HP:0001337	Tremor	1384	CRAT	OMIM:617917
HP:0001337	Tremor	81846	SBF2	ORPHA:99956
HP:0001337	Tremor	85021	REPS1	OMIM:617916
HP:0001337	Tremor	2703	GJA8	OMIM:612474
HP:0001337	Tremor	2702	GJA5	OMIM:612474
HP:0001337	Tremor	9445	ITM2B	OMIM:176500
HP:0001337	Tremor	57410	SCYL1	OMIM:616719
HP:0001337	Tremor	23064	SETX	OMIM:606002
HP:0001337	Tremor	10535	RNASEH2A	ORPHA:51
HP:0001337	Tremor	84153	RNASEH2C	ORPHA:51
HP:0001337	Tremor	25939	SAMHD1	ORPHA:51
HP:0001337	Tremor	79621	RNASEH2B	ORPHA:51
HP:0001337	Tremor	11277	TREX1	ORPHA:51
HP:0001337	Tremor	100147744	RNU7-1	ORPHA:51
HP:0001337	Tremor	134353	LSM11	ORPHA:51
HP:0001337	Tremor	64135	IFIH1	ORPHA:51
HP:0001337	Tremor	1861	TOR1A	OMIM:128100
HP:0001337	Tremor	4976	OPA1	OMIM:210000
HP:0001337	Tremor	124997	WDR81	OMIM:610185
HP:0001337	Tremor	7167	TPI1	OMIM:615512
HP:0001337	Tremor	724066	ATXN8	OMIM:608768
HP:0001337	Tremor	55187	VPS13D	OMIM:607317
HP:0001337	Tremor	5160	PDHA1	OMIM:312170
HP:0001337	Tremor	22880	MORC2	ORPHA:466768
HP:0001337	Tremor	6900	CNTN2	OMIM:615400
HP:0001337	Tremor	767	CA8	OMIM:613227
HP:0001337	Tremor	11093	ADAMTS13	OMIM:274150
HP:0001337	Tremor	5053	PAH	ORPHA:79254
HP:0001337	Tremor	6314	ATXN7	OMIM:164500
HP:0001337	Tremor	55737	VPS35	OMIM:614203
HP:0001337	Tremor	91137	SLC25A46	OMIM:616505
HP:0001337	Tremor	64072	CDH23	ORPHA:91347
HP:0001337	Tremor	57545	CC2D2A	ORPHA:1454
HP:0001337	Tremor	7138	TNNT1	OMIM:605355
HP:0001337	Tremor	7138	TNNT1	ORPHA:98902
HP:0001337	Tremor	54658	UGT1A1	ORPHA:79234
HP:0001337	Tremor	9997	SCO2	OMIM:604377
HP:0001337	Tremor	79784	MYH14	ORPHA:397744
HP:0001337	Tremor	79784	MYH14	OMIM:614369
HP:0001337	Tremor	10367	MICU1	OMIM:615673
HP:0001337	Tremor	6531	SLC6A3	OMIM:613135
HP:0001337	Tremor	56910	STARD7	OMIM:607876
HP:0001337	Tremor	6182	MRPL12	OMIM:618951
HP:0001337	Tremor	4780	NFE2L2	OMIM:617744
HP:0001337	Tremor	57570	TRMT5	OMIM:616539
HP:0001337	Tremor	54676	GTPBP2	OMIM:617988
HP:0001337	Tremor	84628	NTNG2	OMIM:618718
HP:0001337	Tremor	440	ASNS	OMIM:615574
HP:0001337	Tremor	119559	SFXN4	OMIM:615578
HP:0001337	Tremor	79583	TMEM231	ORPHA:2754
HP:0001337	Tremor	10210	TOPORS	ORPHA:2754
HP:0001337	Tremor	51259	TMEM216	ORPHA:2754
HP:0001337	Tremor	317662	FAM149B1	ORPHA:2754
HP:0001337	Tremor	374654	KIF7	ORPHA:2754
HP:0001337	Tremor	4747	NEFL	OMIM:607734
HP:0001337	Tremor	55532	SLC30A10	OMIM:613280
HP:0001337	Tremor	84706	GPT2	ORPHA:477673
HP:0001337	Tremor	8913	CACNA1G	OMIM:616795
HP:0001337	Tremor	80169	CTC1	OMIM:612199
HP:0001337	Tremor	367	AR	OMIM:313200
HP:0001337	Tremor	9570	GOSR2	OMIM:614018
HP:0001337	Tremor	3145	HMBS	ORPHA:79276
HP:0001337	Tremor	5052	PRDX1	OMIM:277400
HP:0001337	Tremor	25974	MMACHC	OMIM:277400
HP:0001337	Tremor	9990	SLC12A6	OMIM:218000
HP:0001337	Tremor	9524	TECR	OMIM:614020
HP:0001337	Tremor	775	CACNA1C	OMIM:620029
HP:0001337	Tremor	5457	POU4F1	ORPHA:314647
HP:0001337	Tremor	5457	POU4F1	OMIM:619352
HP:0001337	Tremor	1476	CSTB	ORPHA:308
HP:0001337	Tremor	85300	ATCAY	ORPHA:94122
HP:0001337	Tremor	85300	ATCAY	OMIM:601238
HP:0001337	Tremor	6712	SPTBN2	ORPHA:352403
HP:0001337	Tremor	6712	SPTBN2	OMIM:600224
HP:0001337	Tremor	6712	SPTBN2	OMIM:615386
HP:0001337	Tremor	57165	GJC2	OMIM:608804
HP:0001337	Tremor	57165	GJC2	OMIM:613206
HP:0001337	Tremor	221496	LEMD2	OMIM:619322
HP:0001337	Tremor	23114	NFASC	OMIM:618356
HP:0001337	Tremor	51506	UFC1	OMIM:618076
HP:0001337	Tremor	5917	RARS1	ORPHA:438114
HP:0001337	Tremor	5917	RARS1	OMIM:616140
HP:0001337	Tremor	10501	SEMA6B	OMIM:618876
HP:0001337	Tremor	10908	PNPLA6	OMIM:275400
HP:0001337	Tremor	10908	PNPLA6	OMIM:215470
HP:0001337	Tremor	7175	TPR	OMIM:620393
HP:0001337	Tremor	343641	TGM6	OMIM:613908
HP:0001337	Tremor	343641	TGM6	ORPHA:276193
HP:0001337	Tremor	410	ARSA	ORPHA:309271
HP:0001337	Tremor	410	ARSA	ORPHA:309263
HP:0001337	Tremor	2058	EPRS1	OMIM:617951
HP:0001337	Tremor	7436	VLDLR	OMIM:224050
HP:0001337	Tremor	267010	RNU12	OMIM:620208
HP:0001337	Tremor	267010	RNU12	ORPHA:512260
HP:0001337	Tremor	7080	NKX2-1	ORPHA:209905
HP:0001337	Tremor	22	ABCB7	OMIM:301310
HP:0001337	Tremor	26278	SACS	ORPHA:98
HP:0001337	Tremor	54664	TMEM106B	OMIM:617964
HP:0001337	Tremor	26090	ABHD12	OMIM:612674
HP:0001337	Tremor	84668	HYCC1	OMIM:610532
HP:0001337	Tremor	27010	TPK1	OMIM:614458
HP:0001337	Tremor	2395	FXN	ORPHA:95
HP:0001337	Tremor	50801	KCNK4	OMIM:618381
HP:0001337	Tremor	56006	SMG9	OMIM:619995
HP:0001337	Tremor	9150	CTDP1	ORPHA:48431
HP:0001337	Tremor	55280	CWF19L1	OMIM:616127
HP:0001337	Tremor	55280	CWF19L1	ORPHA:453521
HP:0001337	Tremor	4361	MRE11	ORPHA:251347
HP:0001337	Tremor	4983	OPHN1	ORPHA:137831
HP:0001337	Tremor	54499	TMCO1	OMIM:213980
HP:0001337	Tremor	5293	PIK3CD	ORPHA:221139
HP:0001337	Tremor	90417	KNSTRN	ORPHA:221139
HP:0001337	Tremor	5728	PTEN	OMIM:158350
HP:0001337	Tremor	54870	QRICH1	OMIM:617982
HP:0001337	Tremor	5192	PEX10	OMIM:614871
HP:0001337	Tremor	81562	LMAN2L	OMIM:617863
HP:0001337	Tremor	3295	HSD17B4	OMIM:233400
HP:0001337	Tremor	6785	ELOVL4	OMIM:133190
HP:0001337	Tremor	10667	FARS2	ORPHA:466722
HP:0001337	Tremor	55129	ANO10	ORPHA:284289
HP:0001337	Tremor	55129	ANO10	OMIM:613728
HP:0001337	Tremor	5981	RFC1	ORPHA:504476
HP:0001337	Tremor	2937	GSS	OMIM:266130
HP:0001337	Tremor	9725	TMEM63A	OMIM:618688
HP:0001337	Tremor	404672	GTF2H5	ORPHA:33364
HP:0001337	Tremor	833	CARS1	ORPHA:33364
HP:0001337	Tremor	2068	ERCC2	ORPHA:33364
HP:0001337	Tremor	7737	RNF113A	ORPHA:33364
HP:0001337	Tremor	136647	MPLKIP	ORPHA:33364
HP:0001337	Tremor	6897	TARS1	ORPHA:33364
HP:0001337	Tremor	2071	ERCC3	ORPHA:33364
HP:0001337	Tremor	2961	GTF2E2	ORPHA:33364
HP:0001337	Tremor	200403	VWA3B	OMIM:616948
HP:0001337	Tremor	54936	ADPRS	OMIM:618170
HP:0001337	Tremor	5290	PIK3CA	OMIM:615108
HP:0001337	Tremor	207	AKT1	OMIM:615109
HP:0001337	Tremor	5297	PI4KA	OMIM:619708
HP:0001337	Tremor	3615	IMPDH2	ORPHA:98808
HP:0001337	Tremor	23533	PIK3R5	ORPHA:64753
HP:0001337	Tremor	51117	COQ4	OMIM:620666
HP:0001337	Tremor	9256	TSPOAP1	ORPHA:101150
HP:0001337	Tremor	4535	MT-ND1	ORPHA:104
HP:0001337	Tremor	4535	MT-ND1	OMIM:535000
HP:0001337	Tremor	4536	MT-ND2	ORPHA:104
HP:0001337	Tremor	4536	MT-ND2	OMIM:535000
HP:0001337	Tremor	4538	MT-ND4	ORPHA:104
HP:0001337	Tremor	4538	MT-ND4	OMIM:535000
HP:0001337	Tremor	4720	NDUFS2	ORPHA:104
HP:0001337	Tremor	4512	MT-CO1	ORPHA:104
HP:0001337	Tremor	4514	MT-CO3	ORPHA:104
HP:0001337	Tremor	4514	MT-CO3	OMIM:535000
HP:0001337	Tremor	4519	MT-CYB	ORPHA:104
HP:0001337	Tremor	4519	MT-CYB	OMIM:535000
HP:0001337	Tremor	4508	MT-ATP6	ORPHA:104
HP:0001337	Tremor	4508	MT-ATP6	OMIM:535000
HP:0001337	Tremor	4540	MT-ND5	ORPHA:104
HP:0001337	Tremor	4540	MT-ND5	OMIM:535000
HP:0001337	Tremor	4541	MT-ND6	ORPHA:104
HP:0001337	Tremor	4541	MT-ND6	OMIM:535000
HP:0001337	Tremor	4539	MT-ND4L	ORPHA:104
HP:0001337	Tremor	4539	MT-ND4L	OMIM:535000
HP:0001337	Tremor	26011	TENM4	OMIM:616736
HP:0001337	Tremor	6310	ATXN1	ORPHA:98755
HP:0001337	Tremor	1200	TPP1	ORPHA:284324
HP:0001337	Tremor	1200	TPP1	OMIM:609270
HP:0001337	Tremor	8575	PRKRA	ORPHA:210571
HP:0001337	Tremor	8575	PRKRA	OMIM:612067
HP:0001337	Tremor	2898	GRIK2	OMIM:611092
HP:0001337	Tremor	4604	MYBPC1	OMIM:618524
HP:0001337	Tremor	80208	SPG11	OMIM:616668
HP:0001337	Tremor	3752	KCND3	OMIM:607346
HP:0001337	Tremor	10397	NDRG1	ORPHA:99950
HP:0001337	Tremor	9420	CYP7B1	OMIM:270800
HP:0001337	Tremor	51308	REEP2	ORPHA:401849
HP:0001337	Tremor	10935	PRDX3	OMIM:619862
HP:0001337	Tremor	5277	PIGA	OMIM:300868
HP:0001337	Tremor	5277	PIGA	OMIM:301072
HP:0001337	Tremor	26058	GIGYF2	OMIM:607688
HP:0001337	Tremor	26058	GIGYF2	ORPHA:411602
HP:0001337	Tremor	11253	MAN1B1	ORPHA:397941
HP:0001337	Tremor	10159	ATP6AP2	OMIM:300911
HP:0001337	Tremor	10159	ATP6AP2	ORPHA:363654
HP:0001337	Tremor	7384	UQCRC1	OMIM:619279
HP:0001337	Tremor	1593	CYP27A1	ORPHA:909
HP:0001337	Tremor	391356	PTRHD1	OMIM:620747
HP:0001337	Tremor	1786	DNMT1	ORPHA:314404
HP:0001337	Tremor	3781	KCNN2	OMIM:619725
HP:0001337	Tremor	5660	PSAP	OMIM:619491
HP:0001337	Tremor	23317	DNAJC13	ORPHA:411602
HP:0001337	Tremor	1981	EIF4G1	ORPHA:411602
HP:0001337	Tremor	1981	EIF4G1	OMIM:614251
HP:0001337	Tremor	116442	RAB39B	OMIM:311510
HP:0001337	Tremor	5524	PTPA	OMIM:620482
HP:0001337	Tremor	2332	FMR1	OMIM:300623
HP:0001337	Tremor	25793	FBXO7	OMIM:260300
HP:0001337	Tremor	51142	CHCHD2	OMIM:616710
HP:0001337	Tremor	23230	VPS13A	ORPHA:2388
HP:0001337	Tremor	2592	GALT	ORPHA:79239
HP:0001337	Tremor	57338	JPH3	OMIM:606438
HP:0001337	Tremor	55768	NGLY1	OMIM:615273
HP:0001337	Tremor	55768	NGLY1	ORPHA:404454
HP:0001337	Tremor	1181	CLCN2	OMIM:615651
HP:0001337	Tremor	2521	FUS	OMIM:614782
HP:0001337	Tremor	131669	UROC1	OMIM:276880
HP:0001337	Tremor	131669	UROC1	ORPHA:210128
HP:0001337	Tremor	131118	DNAJC19	ORPHA:66634
HP:0001337	Tremor	2554	GABRA1	ORPHA:33069
HP:0001337	Tremor	57526	PCDH19	ORPHA:33069
HP:0001337	Tremor	80704	SLC19A3	OMIM:607483
HP:0001337	Tremor	4359	MPZ	OMIM:180800
HP:0001337	Tremor	5521	PPP2R2B	OMIM:604326
HP:0001337	Tremor	5521	PPP2R2B	ORPHA:98762
HP:0001337	Tremor	1822	ATN1	ORPHA:101
HP:0001337	Tremor	492	ATP2B3	OMIM:302500
HP:0001337	Tremor	492	ATP2B3	ORPHA:314978
HP:0001337	Tremor	3766	KCNJ10	ORPHA:199343
HP:0001337	Tremor	6548	SLC9A1	OMIM:616291
HP:0001337	Tremor	7084	TK2	ORPHA:254886
HP:0001337	Tremor	1814	DRD3	OMIM:190300
HP:0001337	Tremor	1293	COL6A3	OMIM:616411
HP:0001337	Tremor	1293	COL6A3	ORPHA:464440
HP:0001337	Tremor	950	SCARB2	OMIM:254900
HP:0001337	Tremor	8996	NOL3	OMIM:614937
HP:0001337	Tremor	4884	NPTX1	OMIM:620158
HP:0001337	Tremor	25792	CIZ1	ORPHA:420492
HP:0001337	Tremor	57704	GBA2	ORPHA:352641
HP:0001337	Tremor	57704	GBA2	OMIM:614409
HP:0001337	Tremor	57704	GBA2	ORPHA:320391
HP:0001337	Tremor	5190	PEX6	ORPHA:95433
HP:0001337	Tremor	79628	SH3TC2	ORPHA:99949
HP:0001337	Tremor	6342	SCP2	OMIM:613724
HP:0001337	Tremor	10528	NOP56	ORPHA:276198
HP:0001337	Tremor	25782	RAB3GAP2	ORPHA:401830
HP:0001337	Tremor	11160	ERLIN2	ORPHA:280384
HP:0001337	Tremor	11160	ERLIN2	ORPHA:209951
HP:0001337	Tremor	10558	SPTLC1	OMIM:162400
HP:0001337	Tremor	4141	MARS1	ORPHA:401835
HP:0001337	Tremor	6606	SMN1	OMIM:271150
HP:0001337	Tremor	6606	SMN1	OMIM:253400
HP:0001337	Tremor	6606	SMN1	OMIM:253550
HP:0001337	Tremor	5165	PDK3	OMIM:300905
HP:0001337	Tremor	5165	PDK3	ORPHA:352675
HP:0001337	Tremor	7253	TSHR	ORPHA:99819
HP:0001337	Tremor	7253	TSHR	ORPHA:424
HP:0001337	Tremor	4803	NGF	OMIM:608654
HP:0001337	Tremor	6607	SMN2	OMIM:253400
HP:0001337	Tremor	51663	ZFR	ORPHA:401840
HP:0001337	Tremor	151	ADRA2B	ORPHA:86814
HP:0001337	Tremor	1501	CTNND2	ORPHA:86814
HP:0001337	Tremor	55023	PHIP	ORPHA:589905
HP:0001337	Tremor	5375	PMP2	OMIM:618279
HP:0001337	Tremor	122553	TRAPPC6B	OMIM:617862
HP:0001337	Tremor	23503	ZFYVE26	ORPHA:100996
HP:0001337	Tremor	10058	ABCB6	OMIM:609153
HP:0001337	Tremor	23261	CAMTA1	OMIM:614756
HP:0001337	Tremor	57505	AARS2	OMIM:615889
HP:0001337	Tremor	57465	TBC1D24	OMIM:608105
HP:0001337	Tremor	7443	VRK1	OMIM:607596
HP:0001337	Tremor	2645	GCK	ORPHA:79299
HP:0001337	Tremor	3735	KARS1	ORPHA:3240
HP:0001337	Tremor	84504	NKX6-2	ORPHA:527497
HP:0001337	Tremor	84504	NKX6-2	OMIM:617560
HP:0001337	Tremor	57679	ALS2	OMIM:205100
HP:0001337	Tremor	57679	ALS2	ORPHA:300605
HP:0001337	Tremor	10280	SIGMAR1	ORPHA:300605
HP:0001337	Tremor	26275	HIBCH	ORPHA:88639
HP:0001337	Tremor	26275	HIBCH	OMIM:250620
HP:0001337	Tremor	3329	HSPD1	OMIM:612233
HP:0001337	Tremor	284217	LAMA1	ORPHA:370022
HP:0001337	Tremor	25885	POLR1A	OMIM:620675
HP:0001337	Tremor	79587	CARS2	ORPHA:477774
HP:0001337	Tremor	63982	ANO3	ORPHA:420485
HP:0001337	Tremor	54974	THG1L	OMIM:618800
HP:0001337	Tremor	28982	FLVCR1	ORPHA:88628
HP:0001337	Tremor	91452	ACBD5	OMIM:618863
HP:0001337	Tremor	6711	SPTBN1	OMIM:619475
HP:0001337	Tremor	25814	ATXN10	ORPHA:98761
HP:0001337	Tremor	4128	MAOA	OMIM:300615
HP:0001337	Tremor	10939	AFG3L2	ORPHA:101109
HP:0001337	Tremor	63929	XPNPEP3	OMIM:613159
HP:0001337	Tremor	84919	PPP1R15B	OMIM:616817
HP:0001337	Tremor	3475	IFRD1	ORPHA:98771
HP:0001337	Tremor	4099	MAG	ORPHA:459056
HP:0001337	Tremor	3748	KCNC3	ORPHA:98768
HP:0001337	Tremor	1203	CLN5	OMIM:256731
HP:0001337	Tremor	9409	PEX16	OMIM:614877
HP:0001337	Tremor	3704	ITPA	OMIM:616647
HP:0001337	Tremor	80055	PGAP1	ORPHA:401820
HP:0001337	Tremor	2892	GRIA3	OMIM:300699
HP:0001337	Tremor	6638	SNRPN	OMIM:105830
HP:0001337	Tremor	9578	CDC42BPB	OMIM:619841
HP:0100852	Abnormal fear-induced behavior	1387	CREBBP	ORPHA:353277
HP:0100852	Abnormal fear-induced behavior	1387	CREBBP	ORPHA:353281
HP:0100852	Abnormal fear-induced behavior	9049	AIP	OMIM:219090
HP:0100852	Abnormal fear-induced behavior	9101	USP8	OMIM:219090
HP:0100852	Abnormal fear-induced behavior	2033	EP300	ORPHA:353284
HP:0100852	Abnormal fear-induced behavior	9896	FIG4	ORPHA:208441
HP:0100852	Abnormal fear-induced behavior	4204	MECP2	ORPHA:3077
HP:0100852	Abnormal fear-induced behavior	210	ALAD	ORPHA:100924
HP:0100852	Abnormal fear-induced behavior	2760	GM2A	ORPHA:309246
HP:0001298	Encephalopathy	5274	SERPINI1	OMIM:604218
HP:0001298	Encephalopathy	10128	LRPPRC	OMIM:220111
HP:0001298	Encephalopathy	84706	GPT2	OMIM:616281
HP:0001298	Encephalopathy	3155	HMGCL	ORPHA:20
HP:0001298	Encephalopathy	3155	HMGCL	OMIM:246450
HP:0001298	Encephalopathy	1738	DLD	OMIM:246900
HP:0001298	Encephalopathy	4558	MT-TF	ORPHA:550
HP:0001298	Encephalopathy	4558	MT-TF	OMIM:540000
HP:0001298	Encephalopathy	4572	MT-TQ	ORPHA:550
HP:0001298	Encephalopathy	4572	MT-TQ	OMIM:540000
HP:0001298	Encephalopathy	4512	MT-CO1	ORPHA:550
HP:0001298	Encephalopathy	4512	MT-CO1	OMIM:540000
HP:0001298	Encephalopathy	4513	MT-CO2	ORPHA:550
HP:0001298	Encephalopathy	4513	MT-CO2	OMIM:540000
HP:0001298	Encephalopathy	4514	MT-CO3	ORPHA:550
HP:0001298	Encephalopathy	4514	MT-CO3	OMIM:540000
HP:0001298	Encephalopathy	4578	MT-TW	ORPHA:550
HP:0001298	Encephalopathy	4578	MT-TW	OMIM:540000
HP:0001298	Encephalopathy	4540	MT-ND5	ORPHA:550
HP:0001298	Encephalopathy	4540	MT-ND5	OMIM:540000
HP:0001298	Encephalopathy	4541	MT-ND6	ORPHA:550
HP:0001298	Encephalopathy	4541	MT-ND6	OMIM:540000
HP:0001298	Encephalopathy	4535	MT-ND1	ORPHA:550
HP:0001298	Encephalopathy	4535	MT-ND1	ORPHA:2609
HP:0001298	Encephalopathy	4535	MT-ND1	OMIM:540000
HP:0001298	Encephalopathy	4538	MT-ND4	ORPHA:550
HP:0001298	Encephalopathy	4567	MT-TL1	ORPHA:550
HP:0001298	Encephalopathy	4567	MT-TL1	OMIM:540000
HP:0001298	Encephalopathy	4574	MT-TS1	ORPHA:550
HP:0001298	Encephalopathy	4574	MT-TS1	OMIM:540000
HP:0001298	Encephalopathy	4575	MT-TS2	ORPHA:550
HP:0001298	Encephalopathy	4575	MT-TS2	OMIM:540000
HP:0001298	Encephalopathy	4564	MT-TH	ORPHA:550
HP:0001298	Encephalopathy	4524	MTHFR	ORPHA:395
HP:0001298	Encephalopathy	54539	NDUFB11	ORPHA:2609
HP:0001298	Encephalopathy	25915	NDUFAF3	ORPHA:2609
HP:0001298	Encephalopathy	51103	NDUFAF1	ORPHA:2609
HP:0001298	Encephalopathy	51103	NDUFAF1	OMIM:618234
HP:0001298	Encephalopathy	91942	NDUFAF2	ORPHA:2609
HP:0001298	Encephalopathy	91942	NDUFAF2	OMIM:618233
HP:0001298	Encephalopathy	51300	TIMMDC1	ORPHA:2609
HP:0001298	Encephalopathy	4716	NDUFB10	ORPHA:2609
HP:0001298	Encephalopathy	4723	NDUFV1	ORPHA:2609
HP:0001298	Encephalopathy	55572	FOXRED1	ORPHA:2609
HP:0001298	Encephalopathy	284184	NDUFAF8	ORPHA:2609
HP:0001298	Encephalopathy	55863	TMEM126B	ORPHA:2609
HP:0001298	Encephalopathy	4537	MT-ND3	ORPHA:2609
HP:0001298	Encephalopathy	4729	NDUFV2	ORPHA:2609
HP:0001298	Encephalopathy	4729	NDUFV2	OMIM:618229
HP:0001298	Encephalopathy	4694	NDUFA1	ORPHA:2609
HP:0001298	Encephalopathy	4720	NDUFS2	ORPHA:2609
HP:0001298	Encephalopathy	4724	NDUFS4	ORPHA:2609
HP:0001298	Encephalopathy	4726	NDUFS6	ORPHA:2609
HP:0001298	Encephalopathy	4726	NDUFS6	OMIM:618232
HP:0001298	Encephalopathy	4728	NDUFS8	ORPHA:2609
HP:0001298	Encephalopathy	4722	NDUFS3	ORPHA:2609
HP:0001298	Encephalopathy	4722	NDUFS3	OMIM:618230
HP:0001298	Encephalopathy	79133	NDUFAF5	ORPHA:2609
HP:0001298	Encephalopathy	126328	NDUFA11	ORPHA:2609
HP:0001298	Encephalopathy	126328	NDUFA11	OMIM:618236
HP:0001298	Encephalopathy	4709	NDUFB3	ORPHA:2609
HP:0001298	Encephalopathy	4709	NDUFB3	OMIM:618246
HP:0001298	Encephalopathy	80224	NUBPL	ORPHA:2609
HP:0001298	Encephalopathy	29078	NDUFAF4	ORPHA:2609
HP:0001298	Encephalopathy	29078	NDUFAF4	OMIM:618237
HP:0001298	Encephalopathy	374291	NDUFS7	ORPHA:2609
HP:0001298	Encephalopathy	374291	NDUFS7	OMIM:618224
HP:0001298	Encephalopathy	4700	NDUFA6	ORPHA:2609
HP:0001298	Encephalopathy	4700	NDUFA6	OMIM:618253
HP:0001298	Encephalopathy	4536	MT-ND2	ORPHA:2609
HP:0001298	Encephalopathy	4719	NDUFS1	ORPHA:2609
HP:0001298	Encephalopathy	4715	NDUFB9	ORPHA:2609
HP:0001298	Encephalopathy	26235	FBXL4	OMIM:615471
HP:0001298	Encephalopathy	79621	RNASEH2B	OMIM:610181
HP:0001298	Encephalopathy	498	ATP5F1A	OMIM:616045
HP:0001298	Encephalopathy	498	ATP5F1A	ORPHA:254913
HP:0001298	Encephalopathy	498	ATP5F1A	OMIM:615228
HP:0001298	Encephalopathy	27247	NFU1	OMIM:620938
HP:0001298	Encephalopathy	763	CA5A	OMIM:615751
HP:0001298	Encephalopathy	10059	DNM1L	OMIM:614388
HP:0001298	Encephalopathy	1355	COX15	OMIM:615119
HP:0001298	Encephalopathy	95	ACY1	ORPHA:137754
HP:0001298	Encephalopathy	10102	TSFM	OMIM:610505
HP:0001298	Encephalopathy	81570	CLPB	ORPHA:445038
HP:0001298	Encephalopathy	2731	GLDC	OMIM:605899
HP:0001298	Encephalopathy	5009	OTC	ORPHA:664
HP:0001298	Encephalopathy	26275	HIBCH	ORPHA:88639
HP:0001298	Encephalopathy	4695	NDUFA2	OMIM:618235
HP:0001298	Encephalopathy	6536	SLC6A9	OMIM:617301
HP:0001298	Encephalopathy	57520	HECW2	OMIM:617268
HP:0001298	Encephalopathy	387787	LIPT2	OMIM:617668
HP:0001298	Encephalopathy	23600	AMACR	ORPHA:79095
HP:0001298	Encephalopathy	51112	TRAPPC12	OMIM:617669
HP:0001298	Encephalopathy	26580	BSCL2	OMIM:615924
HP:0001298	Encephalopathy	10978	CLP1	OMIM:615803
HP:0001298	Encephalopathy	23474	ETHE1	ORPHA:51188
HP:0001298	Encephalopathy	23474	ETHE1	OMIM:602473
HP:0001298	Encephalopathy	2592	GALT	ORPHA:79239
HP:0001298	Encephalopathy	10559	SLC35A1	OMIM:603585
HP:0001298	Encephalopathy	4519	MT-CYB	OMIM:540000
HP:0001298	Encephalopathy	4511	MT-TC	OMIM:540000
HP:0001298	Encephalopathy	4577	MT-TV	OMIM:540000
HP:0001298	Encephalopathy	4566	MT-TK	OMIM:540000
HP:0001298	Encephalopathy	4566	MT-TK	ORPHA:1349
HP:0001298	Encephalopathy	27235	COQ2	OMIM:607426
HP:0001298	Encephalopathy	2859	GPR35	ORPHA:171
HP:0001298	Encephalopathy	10507	SEMA4D	ORPHA:171
HP:0001298	Encephalopathy	4485	MST1	ORPHA:171
HP:0001298	Encephalopathy	6925	TCF4	ORPHA:171
HP:0001298	Encephalopathy	4509	MT-ATP8	ORPHA:254913
HP:0001298	Encephalopathy	514	ATP5F1E	ORPHA:254913
HP:0001298	Encephalopathy	513	ATP5F1D	ORPHA:254913
HP:0001298	Encephalopathy	513	ATP5F1D	OMIM:618120
HP:0001298	Encephalopathy	4508	MT-ATP6	ORPHA:254913
HP:0001298	Encephalopathy	84833	ATP5MK	ORPHA:254913
HP:0001298	Encephalopathy	91647	ATPAF2	ORPHA:254913
HP:0001298	Encephalopathy	150094	SIK1	OMIM:616341
HP:0001298	Encephalopathy	6326	SCN2A	OMIM:618924
HP:0001298	Encephalopathy	4358	MPV17	OMIM:256810
HP:0001298	Encephalopathy	93627	TBCK	OMIM:616900
HP:0001298	Encephalopathy	8772	FADD	OMIM:613759
HP:0001298	Encephalopathy	8772	FADD	ORPHA:306550
HP:0001298	Encephalopathy	1716	DGUOK	OMIM:251880
HP:0001298	Encephalopathy	3158	HMGCS2	OMIM:605911
HP:0001298	Encephalopathy	8802	SUCLG1	OMIM:245400
HP:0001298	Encephalopathy	8802	SUCLG1	ORPHA:17
HP:0001298	Encephalopathy	2898	GRIK2	OMIM:619580
HP:0001298	Encephalopathy	5621	PRNP	OMIM:606688
HP:0001298	Encephalopathy	54968	TMEM70	OMIM:614052
HP:0001298	Encephalopathy	55163	PNPO	OMIM:610090
HP:0001298	Encephalopathy	1759	DNM1	ORPHA:2382
HP:0001298	Encephalopathy	1759	DNM1	ORPHA:442835
HP:0001298	Encephalopathy	2562	GABRB3	ORPHA:2382
HP:0001298	Encephalopathy	5602	MAPK10	ORPHA:2382
HP:0001298	Encephalopathy	773	CACNA1A	ORPHA:2382
HP:0001298	Encephalopathy	773	CACNA1A	ORPHA:442835
HP:0001298	Encephalopathy	6323	SCN1A	ORPHA:2382
HP:0001298	Encephalopathy	6323	SCN1A	ORPHA:442835
HP:0001298	Encephalopathy	23316	CUX2	ORPHA:2382
HP:0001298	Encephalopathy	1106	CHD2	ORPHA:2382
HP:0001298	Encephalopathy	478	ATP1A3	ORPHA:1171
HP:0001298	Encephalopathy	478	ATP1A3	ORPHA:442835
HP:0001298	Encephalopathy	25930	PTPN23	OMIM:618890
HP:0001298	Encephalopathy	5277	PIGA	OMIM:300868
HP:0001298	Encephalopathy	132158	GLYCTK	OMIM:220120
HP:0001298	Encephalopathy	84896	ATAD1	OMIM:618011
HP:0001298	Encephalopathy	1376	CPT2	OMIM:614212
HP:0001298	Encephalopathy	55210	ATAD3A	OMIM:618810
HP:0001298	Encephalopathy	6773	STAT2	OMIM:616636
HP:0001298	Encephalopathy	2752	GLUL	OMIM:610015
HP:0001298	Encephalopathy	27010	TPK1	OMIM:614458
HP:0001298	Encephalopathy	3737	KCNA2	ORPHA:442835
HP:0001298	Encephalopathy	8120	AP3B2	ORPHA:442835
HP:0001298	Encephalopathy	523	ATP6V1A	ORPHA:442835
HP:0001298	Encephalopathy	10991	SLC38A3	ORPHA:442835
HP:0001298	Encephalopathy	51343	FZR1	ORPHA:442835
HP:0001298	Encephalopathy	3747	KCNC2	ORPHA:442835
HP:0001298	Encephalopathy	1917	EEF1A2	ORPHA:442835
HP:0001298	Encephalopathy	23219	FBXO28	ORPHA:442835
HP:0001298	Encephalopathy	2561	GABRB2	ORPHA:442835
HP:0001298	Encephalopathy	8831	SYNGAP1	ORPHA:442835
HP:0001298	Encephalopathy	2558	GABRA5	ORPHA:442835
HP:0001298	Encephalopathy	2906	GRIN2D	ORPHA:442835
HP:0001298	Encephalopathy	116150	NUS1	ORPHA:442835
HP:0001298	Encephalopathy	1213	CLTC	ORPHA:442835
HP:0001298	Encephalopathy	51741	WWOX	ORPHA:442835
HP:0001298	Encephalopathy	23334	SZT2	ORPHA:442835
HP:0001298	Encephalopathy	348980	HCN1	ORPHA:442835
HP:0001298	Encephalopathy	25977	NECAP1	ORPHA:442835
HP:0001298	Encephalopathy	23241	PACS2	ORPHA:442835
HP:0001298	Encephalopathy	16	AARS1	ORPHA:442835
HP:0001298	Encephalopathy	6334	SCN8A	ORPHA:442835
HP:0001298	Encephalopathy	9568	GABBR2	ORPHA:442835
HP:0001298	Encephalopathy	2555	GABRA2	ORPHA:442835
HP:0001298	Encephalopathy	55152	DALRD3	ORPHA:442835
HP:0001298	Encephalopathy	26999	CYFIP2	ORPHA:442835
HP:0001298	Encephalopathy	4915	NTRK2	ORPHA:442835
HP:0001298	Encephalopathy	25973	PARS2	ORPHA:442835
HP:0001298	Encephalopathy	23097	CDK19	ORPHA:442835
HP:0001298	Encephalopathy	2257	FGF12	ORPHA:442835
HP:0001298	Encephalopathy	5530	PPP3CA	ORPHA:442835
HP:0001298	Encephalopathy	22906	TRAK1	ORPHA:442835
HP:0001298	Encephalopathy	22906	TRAK1	OMIM:618201
HP:0001298	Encephalopathy	2566	GABRG2	ORPHA:442835
HP:0001298	Encephalopathy	7532	YWHAG	ORPHA:442835
HP:0001298	Encephalopathy	79876	UBA5	ORPHA:442835
HP:0001298	Encephalopathy	6328	SCN3A	ORPHA:442835
HP:0001298	Encephalopathy	781	CACNA2D1	ORPHA:442835
HP:0001298	Encephalopathy	10659	CELF2	ORPHA:442835
HP:0001298	Encephalopathy	774	CACNA1B	ORPHA:442835
HP:0001298	Encephalopathy	51412	ACTL6B	ORPHA:442835
HP:0001298	Encephalopathy	2290	FOXG1	ORPHA:442835
HP:0001298	Encephalopathy	6506	SLC1A2	ORPHA:442835
HP:0001298	Encephalopathy	8867	SYNJ1	ORPHA:442835
HP:0001298	Encephalopathy	477	ATP1A2	ORPHA:442835
HP:0001298	Encephalopathy	3745	KCNB1	ORPHA:442835
HP:0001298	Encephalopathy	284111	SLC13A5	ORPHA:442835
HP:0001298	Encephalopathy	22866	CNKSR2	ORPHA:442835
HP:0001298	Encephalopathy	79947	DHDDS	ORPHA:442835
HP:0001298	Encephalopathy	6905	TBCE	OMIM:617207
HP:0001298	Encephalopathy	84947	SERAC1	OMIM:614739
HP:0001298	Encephalopathy	28976	ACAD9	ORPHA:99901
HP:0001298	Encephalopathy	28976	ACAD9	OMIM:611126
HP:0001298	Encephalopathy	26834	RNU4-2	OMIM:620851
HP:0001298	Encephalopathy	113278	SLC52A3	OMIM:211530
HP:0001298	Encephalopathy	788	SLC25A20	ORPHA:159
HP:0001298	Encephalopathy	9997	SCO2	OMIM:604377
HP:0001298	Encephalopathy	4204	MECP2	OMIM:300673
HP:0001298	Encephalopathy	4204	MECP2	ORPHA:209370
HP:0001298	Encephalopathy	51241	COX16	OMIM:619355
HP:0001298	Encephalopathy	11019	LIAS	OMIM:614462
HP:0001298	Encephalopathy	51660	MPC1	OMIM:614741
HP:0001298	Encephalopathy	3704	ITPA	OMIM:616647
HP:0001298	Encephalopathy	90624	LYRM7	OMIM:615838
HP:0001298	Encephalopathy	5428	POLG	OMIM:203700
HP:0001298	Encephalopathy	8659	ALDH4A1	ORPHA:79101
HP:0001298	Encephalopathy	6050	RNH1	OMIM:620461
HP:0001298	Encephalopathy	80704	SLC19A3	OMIM:607483
HP:0001298	Encephalopathy	23137	SMC5	OMIM:620185
HP:0001298	Encephalopathy	128240	NAXE	OMIM:617186
HP:0001298	Encephalopathy	50485	SMARCAL1	ORPHA:1830
HP:0001298	Encephalopathy	7284	TUFM	OMIM:610678
HP:0001298	Encephalopathy	51163	DBR1	OMIM:620510
HP:0001298	Encephalopathy	56652	TWNK	OMIM:271245
HP:0001298	Encephalopathy	4854	NOTCH3	ORPHA:136
HP:0001298	Encephalopathy	6904	TBCD	OMIM:617193
HP:0001298	Encephalopathy	55739	NAXD	OMIM:618321
HP:0001298	Encephalopathy	51	ACOX1	OMIM:618960
HP:0001298	Encephalopathy	440	ASNS	OMIM:615574
HP:0001298	Encephalopathy	1537	CYC1	OMIM:615453
HP:0001298	Encephalopathy	200205	IBA57	OMIM:615330
HP:0001298	Encephalopathy	162417	NAGS	ORPHA:927
HP:0001298	Encephalopathy	25974	MMACHC	ORPHA:79282
HP:0001298	Encephalopathy	2581	GALC	ORPHA:206436
HP:0001298	Encephalopathy	5660	PSAP	ORPHA:206436
HP:0001298	Encephalopathy	8813	DPM1	ORPHA:79322
HP:0001298	Encephalopathy	84153	RNASEH2C	OMIM:610329
HP:0001298	Encephalopathy	2639	GCDH	OMIM:231670
HP:0001298	Encephalopathy	5903	RANBP2	OMIM:608033
HP:0001298	Encephalopathy	197322	ACSF3	ORPHA:289504
HP:0001298	Encephalopathy	54658	UGT1A1	OMIM:218800
HP:0001298	Encephalopathy	2629	GBA1	ORPHA:77261
HP:0001298	Encephalopathy	2629	GBA1	ORPHA:77260
HP:0001298	Encephalopathy	10533	ATG7	OMIM:619422
HP:0001298	Encephalopathy	6576	SLC25A1	OMIM:615182
HP:0001298	Encephalopathy	7040	TGFB1	OMIM:618213
HP:0001298	Encephalopathy	84274	COQ5	OMIM:619028
HP:0001298	Encephalopathy	133686	NADK2	OMIM:616034
HP:0001298	Encephalopathy	57017	COQ9	OMIM:614654
HP:0001298	Encephalopathy	87178	PNPT1	OMIM:614932
HP:0001298	Encephalopathy	92609	TIMM50	ORPHA:505216
HP:0001298	Encephalopathy	8942	KYNU	ORPHA:79155
HP:0001298	Encephalopathy	6584	SLC22A5	OMIM:212140
HP:0001298	Encephalopathy	6513	SLC2A1	ORPHA:71277
HP:0001298	Encephalopathy	5654	HTRA1	OMIM:600142
HP:0001298	Encephalopathy	11152	WDR45	ORPHA:329284
HP:0001298	Encephalopathy	11277	TREX1	OMIM:225750
HP:0001298	Encephalopathy	9256	TSPOAP1	ORPHA:101150
HP:0001298	Encephalopathy	7054	TH	ORPHA:101150
HP:0001298	Encephalopathy	8803	SUCLA2	OMIM:612073
HP:0001298	Encephalopathy	7840	ALMS1	ORPHA:64
HP:0001298	Encephalopathy	811	CALR	ORPHA:131
HP:0001298	Encephalopathy	3717	JAK2	ORPHA:131
HP:0001298	Encephalopathy	2153	F5	ORPHA:131
HP:0001298	Encephalopathy	3594	IL12RB1	ORPHA:186
HP:0001298	Encephalopathy	23534	TNPO3	ORPHA:186
HP:0001298	Encephalopathy	3592	IL12A	ORPHA:186
HP:0001298	Encephalopathy	6689	SPIB	ORPHA:186
HP:0001298	Encephalopathy	5450	POU2AF1	ORPHA:186
HP:0001298	Encephalopathy	9966	TNFSF15	ORPHA:186
HP:0001298	Encephalopathy	79258	MMEL1	ORPHA:186
HP:0001298	Encephalopathy	3663	IRF5	ORPHA:186
HP:0001298	Encephalopathy	51594	NBAS	OMIM:616483
HP:0001298	Encephalopathy	60561	RINT1	OMIM:618641
HP:0001298	Encephalopathy	57169	ZNFX1	OMIM:619644
HP:0001298	Encephalopathy	5105	PCK1	OMIM:261680
HP:0001298	Encephalopathy	54914	FOCAD	OMIM:619991
HP:0001298	Encephalopathy	7289	TULP3	OMIM:619902
HP:0001298	Encephalopathy	10165	SLC25A13	ORPHA:247585
HP:0001298	Encephalopathy	6261	RYR1	ORPHA:466650
HP:0001298	Encephalopathy	4068	SH2D1A	OMIM:308240
HP:0001298	Encephalopathy	331	XIAP	OMIM:308240
HP:0001298	Encephalopathy	9451	EIF2AK3	ORPHA:1667
HP:0001298	Encephalopathy	1188	CLCNKB	ORPHA:358
HP:0001298	Encephalopathy	6559	SLC12A3	ORPHA:358
HP:0001298	Encephalopathy	617	BCS1L	OMIM:124000
HP:0001298	Encephalopathy	745	MYRF	OMIM:618113
HP:0001298	Encephalopathy	84342	COG8	OMIM:611182
HP:0001298	Encephalopathy	84342	COG8	ORPHA:95428
HP:0001298	Encephalopathy	58472	SQOR	OMIM:619221
HP:0001298	Encephalopathy	7187	TRAF3	OMIM:614849
HP:0001298	Encephalopathy	10166	SLC25A15	ORPHA:415
HP:0001298	Encephalopathy	10166	SLC25A15	OMIM:238970
HP:0001298	Encephalopathy	5095	PCCA	OMIM:606054
HP:0001298	Encephalopathy	5096	PCCB	OMIM:606054
HP:0001298	Encephalopathy	3033	HADH	OMIM:231530
HP:0001298	Encephalopathy	3033	HADH	ORPHA:71212
HP:0001298	Encephalopathy	35	ACADS	ORPHA:26792
HP:0001298	Encephalopathy	9439	MED23	OMIM:614249
HP:0001298	Encephalopathy	2192	FBLN1	ORPHA:404451
HP:0001298	Encephalopathy	3028	HSD17B10	ORPHA:391428
HP:0001298	Encephalopathy	285175	UNC80	OMIM:616801
HP:0001298	Encephalopathy	55704	CCDC88A	OMIM:617507
HP:0001298	Encephalopathy	728294	D2HGDH	OMIM:600721
HP:0001298	Encephalopathy	7084	TK2	ORPHA:254875
HP:0001298	Encephalopathy	283989	TSEN54	OMIM:225753
HP:0001298	Encephalopathy	9326	ZNHIT3	OMIM:260565
HP:0001298	Encephalopathy	6812	STXBP1	OMIM:612164
HP:0001298	Encephalopathy	1374	CPT1A	OMIM:255120
HP:0001298	Encephalopathy	2775	GNAO1	OMIM:617493
HP:0001298	Encephalopathy	2775	GNAO1	OMIM:615473
HP:0001298	Encephalopathy	2775	GNAO1	ORPHA:1934
HP:0001298	Encephalopathy	1183	CLCN4	OMIM:300114
HP:0001298	Encephalopathy	343450	KCNT2	OMIM:617771
HP:0001298	Encephalopathy	9254	CACNA2D2	OMIM:618501
HP:0001298	Encephalopathy	8818	DPM2	ORPHA:329178
HP:0001298	Encephalopathy	53616	ADAM22	OMIM:617933
HP:0001298	Encephalopathy	10274	STAG1	ORPHA:502434
HP:0001298	Encephalopathy	79796	ALG9	OMIM:608776
HP:0001298	Encephalopathy	1119	CHKA	OMIM:620023
HP:0001298	Encephalopathy	170302	ARX	OMIM:308350
HP:0001298	Encephalopathy	170302	ARX	ORPHA:1934
HP:0001298	Encephalopathy	64801	ARV1	OMIM:617020
HP:0001298	Encephalopathy	79587	CARS2	ORPHA:477774
HP:0001298	Encephalopathy	79587	CARS2	OMIM:616672
HP:0001298	Encephalopathy	57465	TBC1D24	ORPHA:352596
HP:0001298	Encephalopathy	57465	TBC1D24	OMIM:615338
HP:0001298	Encephalopathy	790	CAD	OMIM:616457
HP:0001298	Encephalopathy	6487	ST3GAL3	OMIM:615006
HP:0001298	Encephalopathy	2902	GRIN1	OMIM:617820
HP:0001298	Encephalopathy	2902	GRIN1	OMIM:619814
HP:0001298	Encephalopathy	2902	GRIN1	ORPHA:1934
HP:0001298	Encephalopathy	55904	KMT2E	OMIM:618512
HP:0001298	Encephalopathy	57582	KCNT1	OMIM:614959
HP:0001298	Encephalopathy	63908	NAPB	OMIM:620033
HP:0001298	Encephalopathy	3192	HNRNPU	OMIM:617391
HP:0001298	Encephalopathy	2560	GABRB1	OMIM:617153
HP:0001298	Encephalopathy	23732	FRRS1L	OMIM:616981
HP:0001298	Encephalopathy	79641	ROGDI	OMIM:226750
HP:0001298	Encephalopathy	3899	AFF3	OMIM:619297
HP:0001298	Encephalopathy	25885	POLR1A	OMIM:616462
HP:0001298	Encephalopathy	9512	PMPCB	OMIM:617954
HP:0001298	Encephalopathy	23229	ARHGEF9	ORPHA:163985
HP:0001298	Encephalopathy	23229	ARHGEF9	OMIM:300607
HP:0001298	Encephalopathy	6709	SPTAN1	OMIM:613477
HP:0001298	Encephalopathy	9378	NRXN1	OMIM:614325
HP:0001298	Encephalopathy	54675	CRLS1	OMIM:620167
HP:0001298	Encephalopathy	8604	SLC25A12	OMIM:612949
HP:0001298	Encephalopathy	23258	DENND5A	OMIM:617281
HP:0001298	Encephalopathy	11342	RNF13	OMIM:618379
HP:0001298	Encephalopathy	11342	RNF13	ORPHA:544503
HP:0001298	Encephalopathy	4905	NSF	OMIM:619340
HP:0001298	Encephalopathy	4761	NEUROD2	OMIM:618374
HP:0001298	Encephalopathy	4761	NEUROD2	ORPHA:1934
HP:0001298	Encephalopathy	56479	KCNQ5	OMIM:617601
HP:0001298	Encephalopathy	1641	DCX	ORPHA:2148
HP:0001298	Encephalopathy	388962	BOLA3	OMIM:614299
HP:0001298	Encephalopathy	2903	GRIN2A	ORPHA:98818
HP:0001298	Encephalopathy	1798	DPAGT1	ORPHA:86309
HP:0001298	Encephalopathy	6792	CDKL5	OMIM:300672
HP:0001298	Encephalopathy	6792	CDKL5	ORPHA:1934
HP:0001298	Encephalopathy	10815	CPLX1	OMIM:617976
HP:0001298	Encephalopathy	4191	MDH2	OMIM:617339
HP:0001298	Encephalopathy	79751	SLC25A22	OMIM:609304
HP:0001298	Encephalopathy	79751	SLC25A22	ORPHA:1934
HP:0001298	Encephalopathy	79759	ZNF668	OMIM:620194
HP:0001298	Encephalopathy	10236	HNRNPR	OMIM:620073
HP:0001298	Encephalopathy	60558	GUF1	OMIM:617065
HP:0001298	Encephalopathy	7358	UGDH	OMIM:618792
HP:0001298	Encephalopathy	2904	GRIN2B	OMIM:616139
HP:0001298	Encephalopathy	4190	MDH1	OMIM:618959
HP:0001298	Encephalopathy	23031	MAST3	OMIM:620115
HP:0001298	Encephalopathy	8573	CASK	ORPHA:163937
HP:0001298	Encephalopathy	8573	CASK	ORPHA:1934
HP:0001298	Encephalopathy	7355	SLC35A2	OMIM:300896
HP:0001298	Encephalopathy	6324	SCN1B	OMIM:617350
HP:0001298	Encephalopathy	6324	SCN1B	ORPHA:1934
HP:0001298	Encephalopathy	197258	FCSK	OMIM:618324
HP:0001298	Encephalopathy	54802	TRIT1	OMIM:617873
HP:0001298	Encephalopathy	10479	SLC9A6	ORPHA:85278
HP:0001298	Encephalopathy	777	CACNA1E	OMIM:618285
HP:0001298	Encephalopathy	51227	PIGP	OMIM:617599
HP:0001298	Encephalopathy	51227	PIGP	ORPHA:1934
HP:0001298	Encephalopathy	3785	KCNQ2	ORPHA:439218
HP:0001298	Encephalopathy	3785	KCNQ2	OMIM:613720
HP:0001298	Encephalopathy	2744	GLS	OMIM:618328
HP:0001298	Encephalopathy	5048	PAFAH1B1	ORPHA:95232
HP:0001298	Encephalopathy	85440	DOCK7	OMIM:615859
HP:0001298	Encephalopathy	1173	AP2M1	ORPHA:1942
HP:0001298	Encephalopathy	340533	NEXMIF	ORPHA:1942
HP:0001298	Encephalopathy	6529	SLC6A1	ORPHA:1942
HP:0001298	Encephalopathy	51117	COQ4	OMIM:616276
HP:0001298	Encephalopathy	221692	PHACTR1	OMIM:618298
HP:0001298	Encephalopathy	27133	KCNH5	OMIM:620537
HP:0001298	Encephalopathy	4208	MEF2C	OMIM:613443
HP:0001298	Encephalopathy	2554	GABRA1	OMIM:615744
HP:0001298	Encephalopathy	23236	PLCB1	OMIM:613722
HP:0001298	Encephalopathy	10695	CNPY3	OMIM:617929
HP:0001298	Encephalopathy	3736	KCNA1	ORPHA:1934
HP:0001298	Encephalopathy	9091	PIGQ	ORPHA:1934
HP:0001298	Encephalopathy	140679	SLC32A1	ORPHA:1934
HP:0001298	Encephalopathy	81603	TRIM8	ORPHA:1934
HP:0001298	Encephalopathy	23312	DMXL2	ORPHA:1934
HP:0001298	Encephalopathy	2917	GRM7	ORPHA:1934
HP:0001298	Encephalopathy	11284	PNKP	ORPHA:1934
HP:0033800	Blistering by anatomical location	5317	PKP1	OMIM:604536
HP:0033800	Blistering by anatomical location	1294	COL7A1	ORPHA:79409
HP:0033800	Blistering by anatomical location	1294	COL7A1	ORPHA:79410
HP:0033800	Blistering by anatomical location	3861	KRT14	ORPHA:89838
HP:0033800	Blistering by anatomical location	3861	KRT14	OMIM:131800
HP:0033800	Blistering by anatomical location	3861	KRT14	ORPHA:79400
HP:0033800	Blistering by anatomical location	3852	KRT5	OMIM:619555
HP:0033800	Blistering by anatomical location	3852	KRT5	OMIM:619588
HP:0033800	Blistering by anatomical location	3852	KRT5	OMIM:619594
HP:0033800	Blistering by anatomical location	3852	KRT5	ORPHA:79400
HP:0033800	Blistering by anatomical location	3848	KRT1	ORPHA:530838
HP:0033800	Blistering by anatomical location	3868	KRT16	ORPHA:2309
HP:0033800	Blistering by anatomical location	3872	KRT17	ORPHA:2309
HP:0033800	Blistering by anatomical location	3853	KRT6A	ORPHA:2309
HP:0033800	Blistering by anatomical location	3854	KRT6B	ORPHA:2309
HP:0033800	Blistering by anatomical location	5339	PLEC	ORPHA:79401
HP:0033800	Blistering by anatomical location	1828	DSG1	OMIM:148700
HP:0033800	Blistering by anatomical location	1280	COL2A1	ORPHA:85198
HP:0033800	Blistering by anatomical location	977	CD151	OMIM:609057
HP:0033800	Blistering by anatomical location	23219	FBXO28	OMIM:619777
HP:0033800	Blistering by anatomical location	55612	FERMT1	OMIM:173650
HP:0033800	Blistering by anatomical location	56916	SMARCAD1	OMIM:129200
HP:0033800	Blistering by anatomical location	1308	COL17A1	ORPHA:251393
HP:0033800	Blistering by anatomical location	3691	ITGB4	ORPHA:251393
HP:0033800	Blistering by anatomical location	4312	MMP1	ORPHA:79408
HP:0033800	Blistering by anatomical location	3914	LAMB3	OMIM:226650
HP:0033800	Blistering by anatomical location	3914	LAMB3	ORPHA:79402
HP:0033800	Blistering by anatomical location	3655	ITGA6	OMIM:619817
HP:0033800	Blistering by anatomical location	3655	ITGA6	ORPHA:79403
HP:0033800	Blistering by anatomical location	3119	HLA-DQB1	ORPHA:703
HP:0033800	Blistering by anatomical location	3123	HLA-DRB1	ORPHA:703
HP:0033800	Blistering by anatomical location	3909	LAMA3	ORPHA:79402
HP:0033800	Blistering by anatomical location	3909	LAMA3	OMIM:619784
HP:0033800	Blistering by anatomical location	3909	LAMA3	OMIM:619783
HP:0033800	Blistering by anatomical location	3918	LAMC2	ORPHA:79402
HP:0033800	Blistering by anatomical location	3918	LAMC2	OMIM:619785
HP:0033800	Blistering by anatomical location	3918	LAMC2	OMIM:619786
HP:0033800	Blistering by anatomical location	1830	DSG3	OMIM:619226
HP:0033801	Blistering by histological location	3914	LAMB3	OMIM:226700
HP:0033801	Blistering by histological location	3918	LAMC2	OMIM:226700
HP:0033801	Blistering by histological location	3918	LAMC2	OMIM:619785
HP:0033801	Blistering by histological location	3918	LAMC2	OMIM:619786
HP:0033801	Blistering by histological location	1308	COL17A1	OMIM:619787
HP:0033801	Blistering by histological location	1294	COL7A1	ORPHA:89843
HP:0033801	Blistering by histological location	3655	ITGA6	OMIM:619817
HP:0033801	Blistering by histological location	5339	PLEC	OMIM:612138
HP:0033801	Blistering by histological location	5339	PLEC	OMIM:226670
HP:0033801	Blistering by histological location	3852	KRT5	OMIM:619555
HP:0033801	Blistering by histological location	3852	KRT5	OMIM:609352
HP:0033801	Blistering by histological location	3852	KRT5	OMIM:131960
HP:0033801	Blistering by histological location	3909	LAMA3	OMIM:619783
HP:0033801	Blistering by histological location	3691	ITGB4	OMIM:619816
HP:0033801	Blistering by histological location	3861	KRT14	OMIM:601001
HP:0033801	Blistering by histological location	3861	KRT14	OMIM:131800
HP:0033801	Blistering by histological location	3861	KRT14	OMIM:131760
HP:0033801	Blistering by histological location	9333	TGM5	OMIM:609796
HP:0033801	Blistering by histological location	1041	CDSN	OMIM:270300
HP:0033802	Intra-epidermal blistering	5339	PLEC	OMIM:612138
HP:0033802	Intra-epidermal blistering	5339	PLEC	OMIM:226670
HP:0033802	Intra-epidermal blistering	3852	KRT5	OMIM:619555
HP:0033802	Intra-epidermal blistering	3852	KRT5	OMIM:609352
HP:0033802	Intra-epidermal blistering	3852	KRT5	OMIM:131960
HP:0033802	Intra-epidermal blistering	3691	ITGB4	OMIM:619816
HP:0033802	Intra-epidermal blistering	3861	KRT14	OMIM:601001
HP:0033802	Intra-epidermal blistering	3861	KRT14	OMIM:131800
HP:0033802	Intra-epidermal blistering	3861	KRT14	OMIM:131760
HP:0033802	Intra-epidermal blistering	9333	TGM5	OMIM:609796
HP:0033802	Intra-epidermal blistering	1041	CDSN	OMIM:270300
HP:0033803	Sub-lamina densa cleavage	1294	COL7A1	OMIM:132000
HP:0033803	Sub-lamina densa cleavage	1294	COL7A1	OMIM:226600
HP:0033803	Sub-lamina densa cleavage	1294	COL7A1	OMIM:131750
HP:0033804	Subepidermal blistering	3914	LAMB3	OMIM:226700
HP:0033804	Subepidermal blistering	3918	LAMC2	OMIM:226700
HP:0033804	Subepidermal blistering	3918	LAMC2	OMIM:619785
HP:0033804	Subepidermal blistering	3918	LAMC2	OMIM:619786
HP:0033804	Subepidermal blistering	3691	ITGB4	OMIM:226730
HP:0033804	Subepidermal blistering	3691	ITGB4	ORPHA:158684
HP:0033804	Subepidermal blistering	3691	ITGB4	OMIM:619816
HP:0033804	Subepidermal blistering	5339	PLEC	OMIM:226730
HP:0033804	Subepidermal blistering	5339	PLEC	ORPHA:158684
HP:0033804	Subepidermal blistering	1308	COL17A1	OMIM:619787
HP:0033804	Subepidermal blistering	1294	COL7A1	ORPHA:89843
HP:0033804	Subepidermal blistering	3852	KRT5	ORPHA:158681
HP:0033804	Subepidermal blistering	3852	KRT5	ORPHA:79397
HP:0033804	Subepidermal blistering	3852	KRT5	ORPHA:79399
HP:0033804	Subepidermal blistering	3852	KRT5	ORPHA:79400
HP:0033804	Subepidermal blistering	3655	ITGA6	OMIM:619817
HP:0033804	Subepidermal blistering	3861	KRT14	ORPHA:79397
HP:0033804	Subepidermal blistering	3861	KRT14	ORPHA:79399
HP:0033804	Subepidermal blistering	3861	KRT14	ORPHA:79400
HP:0033804	Subepidermal blistering	3909	LAMA3	OMIM:619783
HP:0033806	Abnormal epidermis stratum granulosum morphology	2312	FLG	OMIM:146700
HP:0033807	Absent keratohyalin granules	2312	FLG	OMIM:146700
HP:0033808	Spermatocele	9075	CLDN2	OMIM:301060
HP:0033809	Increased circulating 17 hydroxypregnenolone concentration	3284	HSD3B2	OMIM:201810
HP:0033810	Decreased circulating dihydrotestosterone concentration	3972	LHB	OMIM:228300
HP:0033811	Abnormal circulating androstenedione concentration	2908	NR3C1	OMIM:615962
HP:0033811	Abnormal circulating androstenedione concentration	54361	WNT4	OMIM:158330
HP:0033811	Abnormal circulating androstenedione concentration	3284	HSD3B2	ORPHA:90791
HP:0033811	Abnormal circulating androstenedione concentration	1584	CYP11B1	OMIM:202010
HP:0033811	Abnormal circulating androstenedione concentration	1584	CYP11B1	ORPHA:90795
HP:0033811	Abnormal circulating androstenedione concentration	84133	ZNRF3	ORPHA:1501
HP:0033811	Abnormal circulating androstenedione concentration	7157	TP53	ORPHA:1501
HP:0033811	Abnormal circulating androstenedione concentration	5573	PRKAR1A	ORPHA:1501
HP:0033811	Abnormal circulating androstenedione concentration	1499	CTNNB1	ORPHA:1501
HP:0033811	Abnormal circulating androstenedione concentration	1029	CDKN2A	ORPHA:1501
HP:0033811	Abnormal circulating androstenedione concentration	7015	TERT	ORPHA:1501
HP:0033811	Abnormal circulating androstenedione concentration	5447	POR	OMIM:201750
HP:0033812	Decreased circulating androstenedione concentration	5447	POR	OMIM:201750
HP:0033822	Mass on thoracic imaging	23095	KIF1B	OMIM:256700
HP:0033822	Mass on thoracic imaging	596	BCL2	ORPHA:545
HP:0033822	Mass on thoracic imaging	3492	IGH	ORPHA:545
HP:0033822	Mass on thoracic imaging	3123	HLA-DRB1	ORPHA:545
HP:0033822	Mass on thoracic imaging	604	BCL6	ORPHA:545
HP:0033823	Mediastinal mass	23095	KIF1B	OMIM:256700
HP:0033823	Mediastinal mass	596	BCL2	ORPHA:545
HP:0033823	Mediastinal mass	3492	IGH	ORPHA:545
HP:0033823	Mediastinal mass	3123	HLA-DRB1	ORPHA:545
HP:0033823	Mediastinal mass	604	BCL6	ORPHA:545
HP:0033832	Livedo	5965	RECQL	OMIM:620370
HP:0033832	Livedo	875	CBS	ORPHA:394
HP:0033832	Livedo	84196	USP48	ORPHA:96253
HP:0033832	Livedo	7157	TP53	ORPHA:96253
HP:0033832	Livedo	9101	USP8	ORPHA:96253
HP:0033832	Livedo	64072	CDH23	ORPHA:96253
HP:0033832	Livedo	2908	NR3C1	ORPHA:96253
HP:0033832	Livedo	673	BRAF	ORPHA:96253
HP:0033832	Livedo	546	ATRX	ORPHA:96253
HP:0033832	Livedo	2982	GUCY1A1	OMIM:615750
HP:0033832	Livedo	81575	APOLD1	OMIM:620715
HP:0033832	Livedo	23590	PDSS1	OMIM:614651
HP:0033832	Livedo	340061	STING1	OMIM:615934
HP:0033832	Livedo	4629	MYH11	OMIM:132900
HP:0033832	Livedo	59	ACTA2	OMIM:611788
HP:0033832	Livedo	56244	BTNL2	ORPHA:797
HP:0033832	Livedo	3123	HLA-DRB1	ORPHA:797
HP:0033832	Livedo	545	ATR	OMIM:614564
HP:0033832	Livedo	51816	ADA2	OMIM:182410
HP:0033832	Livedo	5426	POLE	OMIM:618336
HP:0033832	Livedo	5426	POLE	OMIM:615139
HP:0033833	Elevated circulating soluble CD25 concentration	5698	PSMB9	OMIM:620796
HP:0033834	Malaise	26191	PTPN22	ORPHA:397
HP:0033834	Malaise	26191	PTPN22	ORPHA:536
HP:0033834	Malaise	3106	HLA-B	ORPHA:397
HP:0033834	Malaise	3106	HLA-B	ORPHA:3287
HP:0033834	Malaise	3123	HLA-DRB1	ORPHA:397
HP:0033834	Malaise	3123	HLA-DRB1	ORPHA:536
HP:0033834	Malaise	8974	P4HA2	ORPHA:397
HP:0033834	Malaise	3593	IL12B	ORPHA:3287
HP:0033834	Malaise	6945	MLX	ORPHA:3287
HP:0033834	Malaise	540	ATP7B	OMIM:277900
HP:0033834	Malaise	1991	ELANE	OMIM:162800
HP:0033834	Malaise	5978	REST	ORPHA:654
HP:0033834	Malaise	129563	DIS3L2	ORPHA:654
HP:0033834	Malaise	675	BRCA2	ORPHA:654
HP:0033834	Malaise	9319	TRIP13	ORPHA:654
HP:0033834	Malaise	7490	WT1	ORPHA:654
HP:0033834	Malaise	10155	TRIM28	ORPHA:654
HP:0033834	Malaise	11281	POU6F2	ORPHA:654
HP:0033834	Malaise	2719	GPC3	ORPHA:654
HP:0033834	Malaise	283120	H19	ORPHA:654
HP:0033834	Malaise	2215	FCGR3B	ORPHA:536
HP:0033834	Malaise	6775	STAT4	ORPHA:536
HP:0033834	Malaise	3684	ITGAM	ORPHA:536
HP:0033834	Malaise	3586	IL10	ORPHA:536
HP:0033834	Malaise	221895	JAZF1	ORPHA:536
HP:0033834	Malaise	11277	TREX1	ORPHA:536
HP:0033834	Malaise	7292	TNFSF4	ORPHA:536
HP:0033834	Malaise	640	BLK	ORPHA:536
HP:0033834	Malaise	720	C4A	ORPHA:536
HP:0033834	Malaise	55024	BANK1	ORPHA:536
HP:0033834	Malaise	3500	IGHG1	ORPHA:536
HP:0033834	Malaise	3654	IRAK1	ORPHA:536
HP:0033834	Malaise	1493	CTLA4	ORPHA:536
HP:0033834	Malaise	1380	CR2	ORPHA:536
HP:0033834	Malaise	5133	PDCD1	ORPHA:536
HP:0033834	Malaise	2113	ETS1	ORPHA:536
HP:0033834	Malaise	2213	FCGR2B	ORPHA:536
HP:0033834	Malaise	10318	TNIP1	ORPHA:536
HP:0033834	Malaise	7332	UBE2L3	ORPHA:536
HP:0033834	Malaise	79932	KIAA0319L	ORPHA:536
HP:0033834	Malaise	4204	MECP2	ORPHA:536
HP:0033834	Malaise	3663	IRF5	ORPHA:536
HP:0033834	Malaise	721	C4B	ORPHA:536
HP:0033834	Malaise	1773	DNASE1	ORPHA:536
HP:0033834	Malaise	51284	TLR7	ORPHA:536
HP:0033834	Malaise	6696	SPP1	ORPHA:536
HP:0033834	Malaise	54899	PXK	ORPHA:536
HP:0033834	Malaise	7128	TNFAIP3	ORPHA:536
HP:0033835	Abnormal renal vascular morphology	3949	LDLR	ORPHA:391665
HP:0033835	Abnormal renal vascular morphology	255738	PCSK9	ORPHA:391665
HP:0033835	Abnormal renal vascular morphology	26119	LDLRAP1	ORPHA:391665
HP:0033835	Abnormal renal vascular morphology	338	APOB	ORPHA:391665
HP:0033835	Abnormal renal vascular morphology	64240	ABCG5	ORPHA:391665
HP:0033835	Abnormal renal vascular morphology	64241	ABCG8	ORPHA:391665
HP:0033835	Abnormal renal vascular morphology	55249	YY1AP1	OMIM:602531
HP:0033835	Abnormal renal vascular morphology	4763	NF1	OMIM:162200
HP:0033835	Abnormal renal vascular morphology	4763	NF1	ORPHA:97685
HP:0033835	Abnormal renal vascular morphology	6772	STAT1	ORPHA:391487
HP:0033835	Abnormal renal vascular morphology	9896	FIG4	ORPHA:3472
HP:0033835	Abnormal renal vascular morphology	55697	VAC14	ORPHA:3472
HP:0033835	Abnormal renal vascular morphology	5167	ENPP1	OMIM:208000
HP:0033835	Abnormal renal vascular morphology	55654	TMEM127	OMIM:171300
HP:0033835	Abnormal renal vascular morphology	4149	MAX	OMIM:171300
HP:0033835	Abnormal renal vascular morphology	5979	RET	OMIM:171300
HP:0033835	Abnormal renal vascular morphology	7428	VHL	OMIM:171300
HP:0033835	Abnormal renal vascular morphology	50628	GEMIN4	OMIM:617913
HP:0033835	Abnormal renal vascular morphology	182	JAG1	OMIM:118450
HP:0033835	Abnormal renal vascular morphology	3593	IL12B	ORPHA:3287
HP:0033835	Abnormal renal vascular morphology	3106	HLA-B	ORPHA:3287
HP:0033835	Abnormal renal vascular morphology	6945	MLX	ORPHA:3287
HP:0033835	Abnormal renal vascular morphology	2006	ELN	OMIM:194050
HP:0033835	Abnormal renal vascular morphology	51085	MLXIPL	OMIM:194050
HP:0033835	Abnormal renal vascular morphology	5456	POU3F4	ORPHA:1435
HP:0033835	Abnormal renal vascular morphology	79796	ALG9	ORPHA:79328
HP:0033835	Abnormal renal vascular morphology	57104	PNPLA2	ORPHA:565612
HP:0033835	Abnormal renal vascular morphology	51816	ADA2	OMIM:615688
HP:0033835	Abnormal renal vascular morphology	57728	WDR19	OMIM:614377
HP:0033836	Abnormal intrarenal artery morphology	3949	LDLR	ORPHA:391665
HP:0033836	Abnormal intrarenal artery morphology	255738	PCSK9	ORPHA:391665
HP:0033836	Abnormal intrarenal artery morphology	26119	LDLRAP1	ORPHA:391665
HP:0033836	Abnormal intrarenal artery morphology	338	APOB	ORPHA:391665
HP:0033836	Abnormal intrarenal artery morphology	64240	ABCG5	ORPHA:391665
HP:0033836	Abnormal intrarenal artery morphology	64241	ABCG8	ORPHA:391665
HP:0033836	Abnormal intrarenal artery morphology	55249	YY1AP1	OMIM:602531
HP:0033836	Abnormal intrarenal artery morphology	4763	NF1	OMIM:162200
HP:0033836	Abnormal intrarenal artery morphology	4763	NF1	ORPHA:97685
HP:0033836	Abnormal intrarenal artery morphology	6772	STAT1	ORPHA:391487
HP:0033836	Abnormal intrarenal artery morphology	9896	FIG4	ORPHA:3472
HP:0033836	Abnormal intrarenal artery morphology	55697	VAC14	ORPHA:3472
HP:0033836	Abnormal intrarenal artery morphology	5167	ENPP1	OMIM:208000
HP:0033836	Abnormal intrarenal artery morphology	55654	TMEM127	OMIM:171300
HP:0033836	Abnormal intrarenal artery morphology	4149	MAX	OMIM:171300
HP:0033836	Abnormal intrarenal artery morphology	5979	RET	OMIM:171300
HP:0033836	Abnormal intrarenal artery morphology	7428	VHL	OMIM:171300
HP:0033836	Abnormal intrarenal artery morphology	50628	GEMIN4	OMIM:617913
HP:0033836	Abnormal intrarenal artery morphology	182	JAG1	OMIM:118450
HP:0033836	Abnormal intrarenal artery morphology	3593	IL12B	ORPHA:3287
HP:0033836	Abnormal intrarenal artery morphology	3106	HLA-B	ORPHA:3287
HP:0033836	Abnormal intrarenal artery morphology	6945	MLX	ORPHA:3287
HP:0033836	Abnormal intrarenal artery morphology	2006	ELN	OMIM:194050
HP:0033836	Abnormal intrarenal artery morphology	51085	MLXIPL	OMIM:194050
HP:0033836	Abnormal intrarenal artery morphology	5456	POU3F4	ORPHA:1435
HP:0033836	Abnormal intrarenal artery morphology	79796	ALG9	ORPHA:79328
HP:0033836	Abnormal intrarenal artery morphology	57104	PNPLA2	ORPHA:565612
HP:0033836	Abnormal intrarenal artery morphology	51816	ADA2	OMIM:615688
HP:0033838	Dysphoria	10079	ATP9A	OMIM:620242
HP:0007703	Abnormality of retinal pigmentation	1497	CTNS	OMIM:219800
HP:0007703	Abnormality of retinal pigmentation	1497	CTNS	ORPHA:411629
HP:0007703	Abnormality of retinal pigmentation	4558	MT-TF	ORPHA:550
HP:0007703	Abnormality of retinal pigmentation	4572	MT-TQ	ORPHA:550
HP:0007703	Abnormality of retinal pigmentation	4512	MT-CO1	ORPHA:550
HP:0007703	Abnormality of retinal pigmentation	4513	MT-CO2	ORPHA:550
HP:0007703	Abnormality of retinal pigmentation	4514	MT-CO3	ORPHA:550
HP:0007703	Abnormality of retinal pigmentation	4578	MT-TW	ORPHA:550
HP:0007703	Abnormality of retinal pigmentation	4578	MT-TW	ORPHA:255210
HP:0007703	Abnormality of retinal pigmentation	4540	MT-ND5	ORPHA:550
HP:0007703	Abnormality of retinal pigmentation	4540	MT-ND5	ORPHA:255210
HP:0007703	Abnormality of retinal pigmentation	4541	MT-ND6	ORPHA:550
HP:0007703	Abnormality of retinal pigmentation	4541	MT-ND6	ORPHA:255210
HP:0007703	Abnormality of retinal pigmentation	4535	MT-ND1	ORPHA:550
HP:0007703	Abnormality of retinal pigmentation	4535	MT-ND1	ORPHA:255210
HP:0007703	Abnormality of retinal pigmentation	4538	MT-ND4	ORPHA:550
HP:0007703	Abnormality of retinal pigmentation	4538	MT-ND4	ORPHA:255210
HP:0007703	Abnormality of retinal pigmentation	4567	MT-TL1	ORPHA:550
HP:0007703	Abnormality of retinal pigmentation	4567	MT-TL1	ORPHA:255210
HP:0007703	Abnormality of retinal pigmentation	4567	MT-TL1	ORPHA:480
HP:0007703	Abnormality of retinal pigmentation	4574	MT-TS1	ORPHA:550
HP:0007703	Abnormality of retinal pigmentation	4574	MT-TS1	OMIM:220110
HP:0007703	Abnormality of retinal pigmentation	4575	MT-TS2	ORPHA:550
HP:0007703	Abnormality of retinal pigmentation	4564	MT-TH	ORPHA:550
HP:0007703	Abnormality of retinal pigmentation	54892	NCAPG2	OMIM:618460
HP:0007703	Abnormality of retinal pigmentation	4570	MT-TN	OMIM:220110
HP:0007703	Abnormality of retinal pigmentation	6834	SURF1	OMIM:220110
HP:0007703	Abnormality of retinal pigmentation	50484	RRM2B	ORPHA:329336
HP:0007703	Abnormality of retinal pigmentation	50484	RRM2B	ORPHA:480
HP:0007703	Abnormality of retinal pigmentation	246243	RNASEH1	ORPHA:329336
HP:0007703	Abnormality of retinal pigmentation	84334	COA8	ORPHA:436271
HP:0007703	Abnormality of retinal pigmentation	23600	AMACR	OMIM:614307
HP:0007703	Abnormality of retinal pigmentation	23600	AMACR	ORPHA:79095
HP:0007703	Abnormality of retinal pigmentation	1161	ERCC8	ORPHA:90321
HP:0007703	Abnormality of retinal pigmentation	1161	ERCC8	OMIM:216400
HP:0007703	Abnormality of retinal pigmentation	2072	ERCC4	ORPHA:90321
HP:0007703	Abnormality of retinal pigmentation	4536	MT-ND2	ORPHA:255210
HP:0007703	Abnormality of retinal pigmentation	4537	MT-ND3	ORPHA:255210
HP:0007703	Abnormality of retinal pigmentation	4577	MT-TV	ORPHA:255210
HP:0007703	Abnormality of retinal pigmentation	4508	MT-ATP6	ORPHA:255210
HP:0007703	Abnormality of retinal pigmentation	4566	MT-TK	ORPHA:255210
HP:0007703	Abnormality of retinal pigmentation	51103	NDUFAF1	OMIM:618234
HP:0007703	Abnormality of retinal pigmentation	55768	NGLY1	ORPHA:404454
HP:0007703	Abnormality of retinal pigmentation	6314	ATXN7	OMIM:164500
HP:0007703	Abnormality of retinal pigmentation	29925	GMPPB	ORPHA:370968
HP:0007703	Abnormality of retinal pigmentation	79147	FKRP	ORPHA:370968
HP:0007703	Abnormality of retinal pigmentation	29954	POMT2	ORPHA:370968
HP:0007703	Abnormality of retinal pigmentation	29954	POMT2	OMIM:613156
HP:0007703	Abnormality of retinal pigmentation	9215	LARGE1	ORPHA:370968
HP:0007703	Abnormality of retinal pigmentation	9215	LARGE1	OMIM:613154
HP:0007703	Abnormality of retinal pigmentation	10585	POMT1	ORPHA:370968
HP:0007703	Abnormality of retinal pigmentation	28982	FLVCR1	ORPHA:88628
HP:0007703	Abnormality of retinal pigmentation	28982	FLVCR1	OMIM:609033
HP:0007703	Abnormality of retinal pigmentation	1351	COX8A	OMIM:619059
HP:0007703	Abnormality of retinal pigmentation	55154	MSTO1	OMIM:617675
HP:0007703	Abnormality of retinal pigmentation	55154	MSTO1	ORPHA:502423
HP:0007703	Abnormality of retinal pigmentation	4358	MPV17	OMIM:256810
HP:0007703	Abnormality of retinal pigmentation	80201	HKDC1	OMIM:619614
HP:0007703	Abnormality of retinal pigmentation	7840	ALMS1	OMIM:203800
HP:0007703	Abnormality of retinal pigmentation	80324	PUS1	OMIM:600462
HP:0007703	Abnormality of retinal pigmentation	7466	WFS1	OMIM:222300
HP:0007703	Abnormality of retinal pigmentation	857	CAV1	OMIM:606721
HP:0007703	Abnormality of retinal pigmentation	51102	MECR	OMIM:617282
HP:0007703	Abnormality of retinal pigmentation	4591	TRIM37	OMIM:253250
HP:0007703	Abnormality of retinal pigmentation	2071	ERCC3	OMIM:610651
HP:0007703	Abnormality of retinal pigmentation	8195	MKKS	OMIM:605231
HP:0007703	Abnormality of retinal pigmentation	100996717	NOTCH2NLC	OMIM:619473
HP:0007703	Abnormality of retinal pigmentation	81689	ISCA1	OMIM:617613
HP:0007703	Abnormality of retinal pigmentation	285440	CYP4V2	ORPHA:41751
HP:0007703	Abnormality of retinal pigmentation	3032	HADHB	ORPHA:746
HP:0007703	Abnormality of retinal pigmentation	80025	PANK2	OMIM:234200
HP:0007703	Abnormality of retinal pigmentation	80025	PANK2	ORPHA:216866
HP:0007703	Abnormality of retinal pigmentation	5959	RDH5	ORPHA:52427
HP:0007703	Abnormality of retinal pigmentation	200894	ARL13B	OMIM:612291
HP:0007703	Abnormality of retinal pigmentation	3913	LAMB2	OMIM:614199
HP:0007703	Abnormality of retinal pigmentation	182	JAG1	OMIM:118450
HP:0007703	Abnormality of retinal pigmentation	7078	TIMP3	ORPHA:59181
HP:0007703	Abnormality of retinal pigmentation	256471	MFSD8	OMIM:610951
HP:0007703	Abnormality of retinal pigmentation	3033	HADH	ORPHA:71212
HP:0007703	Abnormality of retinal pigmentation	11128	POLR3A	ORPHA:3455
HP:0007703	Abnormality of retinal pigmentation	9968	MED12	OMIM:301068
HP:0007703	Abnormality of retinal pigmentation	51	ACOX1	OMIM:264470
HP:0007703	Abnormality of retinal pigmentation	2937	GSS	OMIM:266130
HP:0007703	Abnormality of retinal pigmentation	326	AIRE	OMIM:240300
HP:0007703	Abnormality of retinal pigmentation	6389	SDHA	ORPHA:3208
HP:0007703	Abnormality of retinal pigmentation	6389	SDHA	OMIM:252011
HP:0007703	Abnormality of retinal pigmentation	6390	SDHB	ORPHA:3208
HP:0007703	Abnormality of retinal pigmentation	6392	SDHD	ORPHA:3208
HP:0007703	Abnormality of retinal pigmentation	644096	SDHAF1	ORPHA:3208
HP:0007703	Abnormality of retinal pigmentation	25974	MMACHC	ORPHA:79282
HP:0007703	Abnormality of retinal pigmentation	25974	MMACHC	OMIM:277400
HP:0007703	Abnormality of retinal pigmentation	23155	CLCC1	OMIM:609913
HP:0007703	Abnormality of retinal pigmentation	54903	MKS1	OMIM:617121
HP:0007703	Abnormality of retinal pigmentation	4509	MT-ATP8	ORPHA:480
HP:0007703	Abnormality of retinal pigmentation	23503	ZFYVE26	ORPHA:100996
HP:0007703	Abnormality of retinal pigmentation	5052	PRDX1	OMIM:277400
HP:0007703	Abnormality of retinal pigmentation	875	CBS	ORPHA:394
HP:0007703	Abnormality of retinal pigmentation	92840	REEP6	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	6094	ROM1	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	6017	RLBP1	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	7401	CLRN1	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	24	ABCA4	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	24	ABCA4	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	130557	ZNF513	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	582	BBS1	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	92211	CDHR1	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	92211	CDHR1	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	23568	ARL2BP	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	6121	RPE65	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	6121	RPE65	ORPHA:364055
HP:0007703	Abnormality of retinal pigmentation	6121	RPE65	ORPHA:65
HP:0007703	Abnormality of retinal pigmentation	54806	AHI1	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	6101	RP1	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	3419	IDH3A	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	4751	NEK2	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	346007	EYS	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	8100	IFT88	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	23020	SNRNP200	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	762	CA4	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	138050	HGSNAT	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	196	AHR	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	3614	IMPDH1	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	3614	IMPDH1	ORPHA:65
HP:0007703	Abnormality of retinal pigmentation	123016	TTC8	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	6103	RPGR	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	6103	RPGR	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	1406	CRX	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	1406	CRX	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	1406	CRX	ORPHA:65
HP:0007703	Abnormality of retinal pigmentation	5148	PDE6G	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	26160	IFT172	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	26160	IFT172	ORPHA:474
HP:0007703	Abnormality of retinal pigmentation	26121	PRPF31	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	583	BBS2	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	4117	MAK	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	25794	FSCN2	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	375298	CERKL	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	3420	IDH3B	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	57670	KIAA1549	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	7275	TUB	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	24148	PRPF6	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	23418	CRB1	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	23418	CRB1	ORPHA:35612
HP:0007703	Abnormality of retinal pigmentation	23418	CRB1	ORPHA:65
HP:0007703	Abnormality of retinal pigmentation	10461	MERTK	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	57709	SLC7A14	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	768206	PRCD	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	7399	USH2A	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	23370	ARHGEF18	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	5949	RBP3	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	6010	RHO	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	6010	RHO	ORPHA:215
HP:0007703	Abnormality of retinal pigmentation	6100	RP9	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	10002	NR2E3	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	9227	LRAT	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	9227	LRAT	ORPHA:364055
HP:0007703	Abnormality of retinal pigmentation	9227	LRAT	ORPHA:65
HP:0007703	Abnormality of retinal pigmentation	84140	FAM161A	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	55812	SPATA7	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	55812	SPATA7	ORPHA:364055
HP:0007703	Abnormality of retinal pigmentation	55812	SPATA7	ORPHA:65
HP:0007703	Abnormality of retinal pigmentation	55624	POMGNT1	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	79797	ZNF408	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	403	ARL3	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	5145	PDE6A	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	10210	TOPORS	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	8842	PROM1	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	8842	PROM1	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	9128	PRPF4	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	145226	RDH12	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	145226	RDH12	ORPHA:65
HP:0007703	Abnormality of retinal pigmentation	50939	IMPG2	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	57545	CC2D2A	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	8481	OFD1	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	49855	SCAPER	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	9742	IFT140	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	9742	IFT140	ORPHA:474
HP:0007703	Abnormality of retinal pigmentation	9742	IFT140	ORPHA:65
HP:0007703	Abnormality of retinal pigmentation	2979	GUCA1B	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	1259	CNGA1	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	1258	CNGB1	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	60509	AGBL5	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	5961	PRPH2	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	5961	PRPH2	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	388939	PCARE	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	7439	BEST1	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	7439	BEST1	ORPHA:35612
HP:0007703	Abnormality of retinal pigmentation	9785	DHX38	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	7287	TULP1	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	7287	TULP1	ORPHA:65
HP:0007703	Abnormality of retinal pigmentation	5995	RGR	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	9129	PRPF3	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	55975	KLHL7	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	3617	IMPG1	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	94137	RP1L1	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	5158	PDE6B	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	5158	PDE6B	ORPHA:215
HP:0007703	Abnormality of retinal pigmentation	6102	RP2	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	55857	KIZ	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	64218	SEMA4A	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	64218	SEMA4A	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	4901	NRL	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	157657	CFAP418	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	157657	CFAP418	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	10594	PRPF8	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	84100	ARL6	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	6295	SAG	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	6295	SAG	ORPHA:215
HP:0007703	Abnormality of retinal pigmentation	79947	DHDDS	ORPHA:791
HP:0007703	Abnormality of retinal pigmentation	167691	LCA5	ORPHA:364055
HP:0007703	Abnormality of retinal pigmentation	167691	LCA5	ORPHA:65
HP:0007703	Abnormality of retinal pigmentation	6873	TAF2	ORPHA:397951
HP:0007703	Abnormality of retinal pigmentation	63916	ELMO2	ORPHA:3019
HP:0007703	Abnormality of retinal pigmentation	26504	CNNM4	ORPHA:1873
HP:0007703	Abnormality of retinal pigmentation	22926	ATF6	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	64802	NMNAT1	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	64802	NMNAT1	ORPHA:65
HP:0007703	Abnormality of retinal pigmentation	84839	RAX2	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	57096	RPGRIP1	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	57096	RPGRIP1	ORPHA:65
HP:0007703	Abnormality of retinal pigmentation	1261	CNGA3	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	5956	OPN1LW	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	5956	OPN1LW	ORPHA:16
HP:0007703	Abnormality of retinal pigmentation	755	CFAP410	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	778	CACNA1F	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	778	CACNA1F	ORPHA:215
HP:0007703	Abnormality of retinal pigmentation	8754	ADAM9	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	3000	GUCY2D	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	3000	GUCY2D	ORPHA:65
HP:0007703	Abnormality of retinal pigmentation	22999	RIMS1	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	128338	DRAM2	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	2652	OPN1MW	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	2652	OPN1MW	ORPHA:16
HP:0007703	Abnormality of retinal pigmentation	9094	UNC119	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	93589	CACNA2D4	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	93589	CACNA2D4	ORPHA:215
HP:0007703	Abnormality of retinal pigmentation	2978	GUCA1A	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	2978	GUCA1A	ORPHA:1871
HP:0007703	Abnormality of retinal pigmentation	282809	POC1B	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	83394	PITPNM3	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	23093	TTLL5	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	83723	TLCD3B	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	23746	AIPL1	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	23746	AIPL1	ORPHA:65
HP:0007703	Abnormality of retinal pigmentation	9364	RAB28	ORPHA:1872
HP:0007703	Abnormality of retinal pigmentation	22880	MORC2	ORPHA:466768
HP:0007703	Abnormality of retinal pigmentation	5146	PDE6C	ORPHA:1871
HP:0007703	Abnormality of retinal pigmentation	2780	GNAT2	ORPHA:1871
HP:0007703	Abnormality of retinal pigmentation	54714	CNGB3	ORPHA:1871
HP:0007703	Abnormality of retinal pigmentation	224	ALDH3A2	ORPHA:816
HP:0007703	Abnormality of retinal pigmentation	1908	EDN3	ORPHA:897
HP:0007703	Abnormality of retinal pigmentation	4286	MITF	ORPHA:897
HP:0007703	Abnormality of retinal pigmentation	1910	EDNRB	ORPHA:897
HP:0007703	Abnormality of retinal pigmentation	6663	SOX10	ORPHA:897
HP:0007703	Abnormality of retinal pigmentation	5080	PAX6	ORPHA:35737
HP:0007703	Abnormality of retinal pigmentation	65082	VPS33A	ORPHA:505248
HP:0007703	Abnormality of retinal pigmentation	26022	TMEM98	ORPHA:35612
HP:0007703	Abnormality of retinal pigmentation	6657	SOX2	ORPHA:35612
HP:0007703	Abnormality of retinal pigmentation	220	ALDH1A3	ORPHA:35612
HP:0007703	Abnormality of retinal pigmentation	646960	PRSS56	ORPHA:35612
HP:0007703	Abnormality of retinal pigmentation	83552	MFRP	ORPHA:35612
HP:0007703	Abnormality of retinal pigmentation	30062	RAX	ORPHA:35612
HP:0007703	Abnormality of retinal pigmentation	5015	OTX2	ORPHA:35612
HP:0007703	Abnormality of retinal pigmentation	4990	SIX6	ORPHA:35612
HP:0007703	Abnormality of retinal pigmentation	6023	RMRP	ORPHA:175
HP:0007703	Abnormality of retinal pigmentation	2068	ERCC2	ORPHA:1466
HP:0007703	Abnormality of retinal pigmentation	2067	ERCC1	ORPHA:1466
HP:0007703	Abnormality of retinal pigmentation	2074	ERCC6	ORPHA:1466
HP:0007703	Abnormality of retinal pigmentation	2073	ERCC5	ORPHA:1466
HP:0007703	Abnormality of retinal pigmentation	3423	IDS	ORPHA:217085
HP:0007703	Abnormality of retinal pigmentation	3423	IDS	ORPHA:217093
HP:0007703	Abnormality of retinal pigmentation	3423	IDS	OMIM:309900
HP:0007703	Abnormality of retinal pigmentation	54539	NDUFB11	ORPHA:2556
HP:0007703	Abnormality of retinal pigmentation	1349	COX7B	ORPHA:2556
HP:0007703	Abnormality of retinal pigmentation	3052	HCCS	ORPHA:2556
HP:0007703	Abnormality of retinal pigmentation	1130	LYST	ORPHA:167
HP:0007703	Abnormality of retinal pigmentation	4547	MTTP	ORPHA:14
HP:0007703	Abnormality of retinal pigmentation	7274	TTPA	ORPHA:96
HP:0007703	Abnormality of retinal pigmentation	54476	RNF216	ORPHA:1173
HP:0007703	Abnormality of retinal pigmentation	10908	PNPLA6	ORPHA:1173
HP:0007703	Abnormality of retinal pigmentation	4000	LMNA	ORPHA:79474
HP:0007703	Abnormality of retinal pigmentation	2202	EFEMP1	ORPHA:75376
HP:0007703	Abnormality of retinal pigmentation	3075	CFH	ORPHA:75376
HP:0007703	Abnormality of retinal pigmentation	3426	CFI	ORPHA:75376
HP:0007703	Abnormality of retinal pigmentation	9851	KIAA0753	ORPHA:474
HP:0007703	Abnormality of retinal pigmentation	55112	DYNC2I1	ORPHA:474
HP:0007703	Abnormality of retinal pigmentation	153241	CEP120	ORPHA:474
HP:0007703	Abnormality of retinal pigmentation	57560	IFT80	ORPHA:474
HP:0007703	Abnormality of retinal pigmentation	51626	DYNC2LI1	ORPHA:474
HP:0007703	Abnormality of retinal pigmentation	79659	DYNC2H1	ORPHA:474
HP:0007703	Abnormality of retinal pigmentation	57728	WDR19	ORPHA:474
HP:0007703	Abnormality of retinal pigmentation	57728	WDR19	ORPHA:3156
HP:0007703	Abnormality of retinal pigmentation	89891	DYNC2I2	ORPHA:474
HP:0007703	Abnormality of retinal pigmentation	79809	TTC21B	ORPHA:474
HP:0007703	Abnormality of retinal pigmentation	1499	CTNNB1	ORPHA:873
HP:0007703	Abnormality of retinal pigmentation	324	APC	ORPHA:873
HP:0007703	Abnormality of retinal pigmentation	3769	KCNJ13	ORPHA:65
HP:0007703	Abnormality of retinal pigmentation	343035	RD3	ORPHA:65
HP:0007703	Abnormality of retinal pigmentation	80184	CEP290	ORPHA:65
HP:0007703	Abnormality of retinal pigmentation	80184	CEP290	ORPHA:3156
HP:0007703	Abnormality of retinal pigmentation	10383	TUBB4B	ORPHA:65
HP:0007703	Abnormality of retinal pigmentation	85015	USP45	ORPHA:65
HP:0007703	Abnormality of retinal pigmentation	5130	PCYT1A	ORPHA:65
HP:0007703	Abnormality of retinal pigmentation	5130	PCYT1A	ORPHA:85167
HP:0007703	Abnormality of retinal pigmentation	9657	IQCB1	ORPHA:65
HP:0007703	Abnormality of retinal pigmentation	9657	IQCB1	ORPHA:3156
HP:0007703	Abnormality of retinal pigmentation	392255	GDF6	ORPHA:65
HP:0007703	Abnormality of retinal pigmentation	6197	RPS6KA3	ORPHA:192
HP:0007703	Abnormality of retinal pigmentation	157680	VPS13B	ORPHA:193
HP:0007703	Abnormality of retinal pigmentation	7486	WRN	ORPHA:902
HP:0007703	Abnormality of retinal pigmentation	63895	PIEZO2	OMIM:108145
HP:0007703	Abnormality of retinal pigmentation	5184	PEPD	ORPHA:742
HP:0007703	Abnormality of retinal pigmentation	207	AKT1	ORPHA:744
HP:0007703	Abnormality of retinal pigmentation	285362	SUMF1	ORPHA:585
HP:0007703	Abnormality of retinal pigmentation	1121	CHM	ORPHA:180
HP:0007703	Abnormality of retinal pigmentation	4982	TNFRSF11B	ORPHA:2801
HP:0007703	Abnormality of retinal pigmentation	8792	TNFRSF11A	ORPHA:2801
HP:0007703	Abnormality of retinal pigmentation	3832	KIF11	ORPHA:2526
HP:0007703	Abnormality of retinal pigmentation	1356	CP	ORPHA:48818
HP:0007703	Abnormality of retinal pigmentation	4308	TRPM1	ORPHA:215
HP:0007703	Abnormality of retinal pigmentation	57010	CABP4	ORPHA:215
HP:0007703	Abnormality of retinal pigmentation	345193	LRIT3	ORPHA:215
HP:0007703	Abnormality of retinal pigmentation	2916	GRM6	ORPHA:215
HP:0007703	Abnormality of retinal pigmentation	440435	GPR179	ORPHA:215
HP:0007703	Abnormality of retinal pigmentation	6011	GRK1	ORPHA:215
HP:0007703	Abnormality of retinal pigmentation	9187	SLC24A1	ORPHA:215
HP:0007703	Abnormality of retinal pigmentation	2784	GNB3	ORPHA:215
HP:0007703	Abnormality of retinal pigmentation	2779	GNAT1	ORPHA:215
HP:0007703	Abnormality of retinal pigmentation	60506	NYX	ORPHA:215
HP:0007703	Abnormality of retinal pigmentation	57192	MCOLN1	ORPHA:578
HP:0007703	Abnormality of retinal pigmentation	5264	PHYH	ORPHA:773
HP:0007703	Abnormality of retinal pigmentation	5191	PEX7	ORPHA:773
HP:0007703	Abnormality of retinal pigmentation	55670	PEX26	ORPHA:44
HP:0007703	Abnormality of retinal pigmentation	5824	PEX19	ORPHA:44
HP:0007703	Abnormality of retinal pigmentation	5828	PEX2	ORPHA:44
HP:0007703	Abnormality of retinal pigmentation	8504	PEX3	ORPHA:44
HP:0007703	Abnormality of retinal pigmentation	9409	PEX16	ORPHA:44
HP:0007703	Abnormality of retinal pigmentation	5190	PEX6	ORPHA:44
HP:0007703	Abnormality of retinal pigmentation	8799	PEX11B	ORPHA:44
HP:0007703	Abnormality of retinal pigmentation	5830	PEX5	ORPHA:44
HP:0007703	Abnormality of retinal pigmentation	5189	PEX1	ORPHA:44
HP:0007703	Abnormality of retinal pigmentation	5193	PEX12	ORPHA:44
HP:0007703	Abnormality of retinal pigmentation	5194	PEX13	ORPHA:44
HP:0007703	Abnormality of retinal pigmentation	5195	PEX14	ORPHA:44
HP:0007703	Abnormality of retinal pigmentation	5192	PEX10	ORPHA:44
HP:0007703	Abnormality of retinal pigmentation	149461	CLDN19	ORPHA:2196
HP:0007703	Abnormality of retinal pigmentation	85378	TUBGCP6	ORPHA:2518
HP:0007703	Abnormality of retinal pigmentation	85378	TUBGCP6	OMIM:251270
HP:0007703	Abnormality of retinal pigmentation	27229	TUBGCP4	ORPHA:2518
HP:0007703	Abnormality of retinal pigmentation	10733	PLK4	ORPHA:2518
HP:0007703	Abnormality of retinal pigmentation	2317	FLNB	OMIM:272460
HP:0007703	Abnormality of retinal pigmentation	100151683	RNU4ATAC	ORPHA:1824
HP:0007703	Abnormality of retinal pigmentation	22930	RAB3GAP1	ORPHA:2510
HP:0007703	Abnormality of retinal pigmentation	25782	RAB3GAP2	ORPHA:2510
HP:0007703	Abnormality of retinal pigmentation	22931	RAB18	ORPHA:2510
HP:0007703	Abnormality of retinal pigmentation	128637	TBC1D20	ORPHA:2510
HP:0007703	Abnormality of retinal pigmentation	56980	PRDM10	ORPHA:122
HP:0007703	Abnormality of retinal pigmentation	201163	FLCN	ORPHA:122
HP:0007703	Abnormality of retinal pigmentation	3030	HADHA	ORPHA:5
HP:0007703	Abnormality of retinal pigmentation	9990	SLC12A6	ORPHA:1496
HP:0007703	Abnormality of retinal pigmentation	57724	EPG5	ORPHA:1493
HP:0007703	Abnormality of retinal pigmentation	26146	TRAF3IP1	ORPHA:3156
HP:0007703	Abnormality of retinal pigmentation	10806	SDCCAG8	ORPHA:3156
HP:0007703	Abnormality of retinal pigmentation	27130	INVS	ORPHA:3156
HP:0007703	Abnormality of retinal pigmentation	4867	NPHP1	ORPHA:3156
HP:0007703	Abnormality of retinal pigmentation	261734	NPHP4	ORPHA:3156
HP:0007703	Abnormality of retinal pigmentation	27031	NPHP3	ORPHA:3156
HP:0007703	Abnormality of retinal pigmentation	22897	CEP164	ORPHA:3156
HP:0007703	Abnormality of retinal pigmentation	4157	MC1R	ORPHA:79432
HP:0007703	Abnormality of retinal pigmentation	4948	OCA2	ORPHA:79432
HP:0007703	Abnormality of retinal pigmentation	7299	TYR	ORPHA:79434
HP:0007703	Abnormality of retinal pigmentation	51151	SLC45A2	ORPHA:79435
HP:0007703	Abnormality of retinal pigmentation	1001	CDH3	ORPHA:1897
HP:0007703	Abnormality of retinal pigmentation	22901	ARSG	OMIM:618144
HP:0007703	Abnormality of retinal pigmentation	54585	LZTFL1	OMIM:615994
HP:0007703	Abnormality of retinal pigmentation	3098	HK1	OMIM:617460
HP:0007703	Abnormality of retinal pigmentation	112752	IFT43	OMIM:617871
HP:0007703	Abnormality of retinal pigmentation	51109	RDH11	OMIM:616108
HP:0007703	Abnormality of retinal pigmentation	79140	CCDC28B	OMIM:209900
HP:0007703	Abnormality of retinal pigmentation	129880	BBS5	OMIM:615983
HP:0007703	Abnormality of retinal pigmentation	27241	BBS9	OMIM:615986
HP:0007703	Abnormality of retinal pigmentation	51095	TRNT1	OMIM:616959
HP:0007703	Abnormality of retinal pigmentation	85465	SELENOI	ORPHA:506353
HP:0007703	Abnormality of retinal pigmentation	5149	PDE6H	ORPHA:49382
HP:0007703	Abnormality of retinal pigmentation	4935	GPR143	OMIM:300814
HP:0007703	Abnormality of retinal pigmentation	4683	NBN	OMIM:251260
HP:0007703	Abnormality of retinal pigmentation	1182	CLCN3	OMIM:619517
HP:0007703	Abnormality of retinal pigmentation	6785	ELOVL4	ORPHA:827
HP:0007703	Abnormality of retinal pigmentation	4329	ALDH6A1	OMIM:614105
HP:0007703	Abnormality of retinal pigmentation	23761	PISD	OMIM:618889
HP:0007703	Abnormality of retinal pigmentation	6533	SLC6A6	OMIM:145350
HP:0007703	Abnormality of retinal pigmentation	56652	TWNK	OMIM:607459
HP:0007703	Abnormality of retinal pigmentation	5428	POLG	OMIM:607459
HP:0007703	Abnormality of retinal pigmentation	27072	VPS41	OMIM:619389
HP:0007703	Abnormality of retinal pigmentation	51098	IFT52	OMIM:617102
HP:0007703	Abnormality of retinal pigmentation	8449	DHX16	OMIM:618733
HP:0007704	Paroxysmal involuntary eye movements	7355	SLC35A2	ORPHA:356961
HP:0007704	Paroxysmal involuntary eye movements	29968	PSAT1	ORPHA:284417
HP:0007704	Paroxysmal involuntary eye movements	8842	PROM1	ORPHA:827
HP:0007704	Paroxysmal involuntary eye movements	5961	PRPH2	ORPHA:827
HP:0007704	Paroxysmal involuntary eye movements	6785	ELOVL4	ORPHA:827
HP:0007704	Paroxysmal involuntary eye movements	24	ABCA4	ORPHA:827
HP:0007704	Paroxysmal involuntary eye movements	54714	CNGB3	ORPHA:827
HP:0007704	Paroxysmal involuntary eye movements	6513	SLC2A1	OMIM:606777
HP:0007704	Paroxysmal involuntary eye movements	6513	SLC2A1	ORPHA:71277
HP:0007704	Paroxysmal involuntary eye movements	54539	NDUFB11	ORPHA:2609
HP:0007704	Paroxysmal involuntary eye movements	25915	NDUFAF3	ORPHA:2609
HP:0007704	Paroxysmal involuntary eye movements	51103	NDUFAF1	ORPHA:2609
HP:0007704	Paroxysmal involuntary eye movements	91942	NDUFAF2	ORPHA:2609
HP:0007704	Paroxysmal involuntary eye movements	51300	TIMMDC1	ORPHA:2609
HP:0007704	Paroxysmal involuntary eye movements	4716	NDUFB10	ORPHA:2609
HP:0007704	Paroxysmal involuntary eye movements	4723	NDUFV1	ORPHA:2609
HP:0007704	Paroxysmal involuntary eye movements	55572	FOXRED1	ORPHA:2609
HP:0007704	Paroxysmal involuntary eye movements	284184	NDUFAF8	ORPHA:2609
HP:0007704	Paroxysmal involuntary eye movements	55863	TMEM126B	ORPHA:2609
HP:0007704	Paroxysmal involuntary eye movements	4535	MT-ND1	ORPHA:2609
HP:0007704	Paroxysmal involuntary eye movements	4537	MT-ND3	ORPHA:2609
HP:0007704	Paroxysmal involuntary eye movements	4729	NDUFV2	ORPHA:2609
HP:0007704	Paroxysmal involuntary eye movements	4694	NDUFA1	ORPHA:2609
HP:0007704	Paroxysmal involuntary eye movements	4720	NDUFS2	ORPHA:2609
HP:0007704	Paroxysmal involuntary eye movements	4724	NDUFS4	ORPHA:2609
HP:0007704	Paroxysmal involuntary eye movements	4726	NDUFS6	ORPHA:2609
HP:0007704	Paroxysmal involuntary eye movements	4728	NDUFS8	ORPHA:2609
HP:0007704	Paroxysmal involuntary eye movements	4722	NDUFS3	ORPHA:2609
HP:0007704	Paroxysmal involuntary eye movements	79133	NDUFAF5	ORPHA:2609
HP:0007704	Paroxysmal involuntary eye movements	126328	NDUFA11	ORPHA:2609
HP:0007704	Paroxysmal involuntary eye movements	4709	NDUFB3	ORPHA:2609
HP:0007704	Paroxysmal involuntary eye movements	80224	NUBPL	ORPHA:2609
HP:0007704	Paroxysmal involuntary eye movements	29078	NDUFAF4	ORPHA:2609
HP:0007704	Paroxysmal involuntary eye movements	374291	NDUFS7	ORPHA:2609
HP:0007704	Paroxysmal involuntary eye movements	4700	NDUFA6	ORPHA:2609
HP:0007704	Paroxysmal involuntary eye movements	4536	MT-ND2	ORPHA:2609
HP:0007704	Paroxysmal involuntary eye movements	4719	NDUFS1	ORPHA:2609
HP:0007704	Paroxysmal involuntary eye movements	4715	NDUFB9	ORPHA:2609
HP:0007704	Paroxysmal involuntary eye movements	84504	NKX6-2	ORPHA:527497
HP:0007705	Corneal degeneration	1296	COL8A2	OMIM:136800
HP:0007875	Congenital blindness	4041	LRP5	ORPHA:2788
HP:0007875	Congenital blindness	4041	LRP5	OMIM:259770
HP:0007875	Congenital blindness	471	ATIC	ORPHA:250977
HP:0007875	Congenital blindness	471	ATIC	OMIM:608688
HP:0007875	Congenital blindness	1757	SARDH	ORPHA:3129
HP:0007875	Congenital blindness	80184	CEP290	OMIM:610188
HP:0007875	Congenital blindness	286053	NSMCE2	ORPHA:436182
HP:0007875	Congenital blindness	7518	XRCC4	ORPHA:436182
HP:0007875	Congenital blindness	343035	RD3	OMIM:610612
HP:0007875	Congenital blindness	9227	LRAT	OMIM:613341
HP:0007707	Congenital aphakia	4519	MT-CYB	ORPHA:137675
HP:0007707	Congenital aphakia	2301	FOXE3	ORPHA:83461
HP:0007707	Congenital aphakia	2301	FOXE3	OMIM:610256
HP:0007707	Congenital aphakia	4796	TONSL	ORPHA:93357
HP:0007709	Band-shaped corneal dystrophy	1634	DCN	OMIM:610048
HP:0007709	Band-shaped corneal dystrophy	57192	MCOLN1	OMIM:620763
HP:0000597	Ophthalmoparesis	4287	ATXN3	OMIM:109150
HP:0000597	Ophthalmoparesis	2483	FRG1	OMIM:158900
HP:0000597	Ophthalmoparesis	35	ACADS	OMIM:201470
HP:0000597	Ophthalmoparesis	63899	NSUN3	OMIM:619012
HP:0000597	Ophthalmoparesis	27247	NFU1	OMIM:620938
HP:0000597	Ophthalmoparesis	6390	SDHB	ORPHA:3208
HP:0000597	Ophthalmoparesis	6392	SDHD	ORPHA:3208
HP:0000597	Ophthalmoparesis	644096	SDHAF1	ORPHA:3208
HP:0000597	Ophthalmoparesis	90624	LYRM7	OMIM:615838
HP:0000597	Ophthalmoparesis	4534	MTM1	OMIM:310400
HP:0000597	Ophthalmoparesis	80704	SLC19A3	OMIM:607483
HP:0000597	Ophthalmoparesis	4618	MYF6	ORPHA:169189
HP:0000597	Ophthalmoparesis	91942	NDUFAF2	OMIM:618233
HP:0000597	Ophthalmoparesis	84842	HPDL	OMIM:619026
HP:0000597	Ophthalmoparesis	10533	ATG7	OMIM:619422
HP:0000597	Ophthalmoparesis	56947	MFF	OMIM:617086
HP:0000597	Ophthalmoparesis	56947	MFF	ORPHA:485421
HP:0000597	Ophthalmoparesis	4617	MYF5	OMIM:618155
HP:0000597	Ophthalmoparesis	101060691	NUTM2B-AS1	OMIM:618637
HP:0000597	Ophthalmoparesis	113278	SLC52A3	OMIM:211530
HP:0000597	Ophthalmoparesis	6786	STIM1	OMIM:160565
HP:0000597	Ophthalmoparesis	4564	MT-TH	ORPHA:550
HP:0000597	Ophthalmoparesis	1716	DGUOK	OMIM:617070
HP:0000597	Ophthalmoparesis	1716	DGUOK	ORPHA:329314
HP:0000597	Ophthalmoparesis	4576	MT-TT	ORPHA:254857
HP:0000597	Ophthalmoparesis	708	C1QBP	OMIM:617713
HP:0000597	Ophthalmoparesis	57176	VARS2	OMIM:615917
HP:0000597	Ophthalmoparesis	92667	MGME1	ORPHA:352447
HP:0000597	Ophthalmoparesis	92667	MGME1	OMIM:615084
HP:0000597	Ophthalmoparesis	4568	MT-TL2	ORPHA:663
HP:0000597	Ophthalmoparesis	5442	POLRMT	OMIM:619743
HP:0000597	Ophthalmoparesis	7156	TOP3A	OMIM:618098
HP:0000597	Ophthalmoparesis	132001	TAMM41	OMIM:620139
HP:0000597	Ophthalmoparesis	54840	APTX	OMIM:208920
HP:0000597	Ophthalmoparesis	26191	PTPN22	ORPHA:397
HP:0000597	Ophthalmoparesis	3106	HLA-B	ORPHA:397
HP:0000597	Ophthalmoparesis	3123	HLA-DRB1	ORPHA:397
HP:0000597	Ophthalmoparesis	8974	P4HA2	ORPHA:397
HP:0000597	Ophthalmoparesis	274	BIN1	ORPHA:169186
HP:0000597	Ophthalmoparesis	10290	SPEG	ORPHA:169186
HP:0000597	Ophthalmoparesis	6261	RYR1	ORPHA:169186
HP:0000597	Ophthalmoparesis	7273	TTN	ORPHA:169186
HP:0000597	Ophthalmoparesis	291	SLC25A4	ORPHA:254892
HP:0000597	Ophthalmoparesis	5428	POLG	ORPHA:254892
HP:0000597	Ophthalmoparesis	5428	POLG	OMIM:603041
HP:0000597	Ophthalmoparesis	5428	POLG	ORPHA:70595
HP:0000597	Ophthalmoparesis	5428	POLG	ORPHA:254881
HP:0000597	Ophthalmoparesis	5428	POLG	ORPHA:298
HP:0000597	Ophthalmoparesis	5428	POLG	OMIM:607459
HP:0000597	Ophthalmoparesis	56652	TWNK	ORPHA:254892
HP:0000597	Ophthalmoparesis	56652	TWNK	ORPHA:70595
HP:0000597	Ophthalmoparesis	56652	TWNK	OMIM:607459
HP:0000597	Ophthalmoparesis	11232	POLG2	ORPHA:254892
HP:0000597	Ophthalmoparesis	50484	RRM2B	ORPHA:254892
HP:0000597	Ophthalmoparesis	50484	RRM2B	ORPHA:298
HP:0000597	Ophthalmoparesis	1134	CHRNA1	OMIM:601462
HP:0000597	Ophthalmoparesis	1134	CHRNA1	OMIM:608930
HP:0000597	Ophthalmoparesis	1134	CHRNA1	ORPHA:98913
HP:0000597	Ophthalmoparesis	1145	CHRNE	OMIM:608931
HP:0000597	Ophthalmoparesis	1145	CHRNE	ORPHA:98913
HP:0000597	Ophthalmoparesis	1145	CHRNE	OMIM:605809
HP:0000597	Ophthalmoparesis	2673	GFPT1	OMIM:608931
HP:0000597	Ophthalmoparesis	2673	GFPT1	OMIM:610542
HP:0000597	Ophthalmoparesis	4574	MT-TS1	OMIM:220110
HP:0000597	Ophthalmoparesis	4570	MT-TN	OMIM:220110
HP:0000597	Ophthalmoparesis	6834	SURF1	OMIM:220110
HP:0000597	Ophthalmoparesis	1763	DNA2	OMIM:615156
HP:0000597	Ophthalmoparesis	23345	SYNE1	ORPHA:88644
HP:0000597	Ophthalmoparesis	1103	CHAT	OMIM:254210
HP:0000597	Ophthalmoparesis	10312	TCIRG1	OMIM:259700
HP:0000597	Ophthalmoparesis	1890	TYMP	OMIM:603041
HP:0000597	Ophthalmoparesis	1890	TYMP	ORPHA:298
HP:0000597	Ophthalmoparesis	6329	SCN4A	ORPHA:99735
HP:0000597	Ophthalmoparesis	6329	SCN4A	ORPHA:99736
HP:0000597	Ophthalmoparesis	6329	SCN4A	ORPHA:98913
HP:0000597	Ophthalmoparesis	6329	SCN4A	ORPHA:682
HP:0000597	Ophthalmoparesis	8659	ALDH4A1	ORPHA:79101
HP:0000597	Ophthalmoparesis	100134444	KCNJ18	ORPHA:79102
HP:0000597	Ophthalmoparesis	2556	GABRA3	ORPHA:79102
HP:0000597	Ophthalmoparesis	779	CACNA1S	ORPHA:79102
HP:0000597	Ophthalmoparesis	1822	ATN1	ORPHA:101
HP:0000597	Ophthalmoparesis	4535	MT-ND1	ORPHA:255210
HP:0000597	Ophthalmoparesis	4536	MT-ND2	ORPHA:255210
HP:0000597	Ophthalmoparesis	4537	MT-ND3	ORPHA:255210
HP:0000597	Ophthalmoparesis	4538	MT-ND4	ORPHA:255210
HP:0000597	Ophthalmoparesis	4567	MT-TL1	ORPHA:255210
HP:0000597	Ophthalmoparesis	4578	MT-TW	ORPHA:255210
HP:0000597	Ophthalmoparesis	4577	MT-TV	ORPHA:255210
HP:0000597	Ophthalmoparesis	4508	MT-ATP6	ORPHA:255210
HP:0000597	Ophthalmoparesis	4540	MT-ND5	ORPHA:255210
HP:0000597	Ophthalmoparesis	4541	MT-ND6	ORPHA:255210
HP:0000597	Ophthalmoparesis	4566	MT-TK	ORPHA:255210
HP:0000597	Ophthalmoparesis	4566	MT-TK	ORPHA:1349
HP:0000597	Ophthalmoparesis	64419	MTMR14	OMIM:160150
HP:0000597	Ophthalmoparesis	1785	DNM2	OMIM:160150
HP:0000597	Ophthalmoparesis	60482	SLC5A7	OMIM:617143
HP:0000597	Ophthalmoparesis	2934	GSN	ORPHA:85448
HP:0000597	Ophthalmoparesis	10939	AFG3L2	ORPHA:101109
HP:0000597	Ophthalmoparesis	10939	AFG3L2	OMIM:610246
HP:0000597	Ophthalmoparesis	8292	COLQ	ORPHA:98915
HP:0000597	Ophthalmoparesis	8292	COLQ	OMIM:603034
HP:0000597	Ophthalmoparesis	3913	LAMB2	ORPHA:98915
HP:0000597	Ophthalmoparesis	6311	ATXN2	ORPHA:98756
HP:0000597	Ophthalmoparesis	4038	LRP4	ORPHA:98913
HP:0000597	Ophthalmoparesis	1305	COL13A1	ORPHA:98913
HP:0000597	Ophthalmoparesis	1140	CHRNB1	ORPHA:98913
HP:0000597	Ophthalmoparesis	1144	CHRND	ORPHA:98913
HP:0000597	Ophthalmoparesis	4593	MUSK	ORPHA:98913
HP:0000597	Ophthalmoparesis	5913	RAPSN	ORPHA:98913
HP:0000597	Ophthalmoparesis	375790	AGRN	ORPHA:98913
HP:0000597	Ophthalmoparesis	221264	AK9	ORPHA:98913
HP:0000597	Ophthalmoparesis	285489	DOK7	ORPHA:98913
HP:0000597	Ophthalmoparesis	285489	DOK7	OMIM:254300
HP:0000597	Ophthalmoparesis	6310	ATXN1	ORPHA:98755
HP:0000597	Ophthalmoparesis	3980	LIG3	ORPHA:298
HP:0000597	Ophthalmoparesis	5339	PLEC	ORPHA:257
HP:0000597	Ophthalmoparesis	7084	TK2	ORPHA:254875
HP:0000597	Ophthalmoparesis	7345	UCHL1	OMIM:615491
HP:0000597	Ophthalmoparesis	4358	MPV17	OMIM:256810
HP:0000597	Ophthalmoparesis	29967	LRP12	OMIM:164310
HP:0000597	Ophthalmoparesis	29967	LRP12	ORPHA:98897
HP:0000597	Ophthalmoparesis	23479	ISCU	OMIM:255125
HP:0000597	Ophthalmoparesis	6314	ATXN7	ORPHA:94147
HP:0000597	Ophthalmoparesis	88	ACTN2	OMIM:618654
HP:0000597	Ophthalmoparesis	4137	MAPT	OMIM:260540
HP:0000597	Ophthalmoparesis	246243	RNASEH1	OMIM:616479
HP:0000597	Ophthalmoparesis	131377	KLHL40	OMIM:615348
HP:0000597	Ophthalmoparesis	79736	TEFM	OMIM:620451
HP:0000597	Ophthalmoparesis	353116	RILPL1	ORPHA:98897
HP:0000597	Ophthalmoparesis	10755	GIPC1	ORPHA:98897
HP:0000597	Ophthalmoparesis	100996717	NOTCH2NLC	ORPHA:98897
HP:0000597	Ophthalmoparesis	92840	REEP6	ORPHA:791
HP:0000597	Ophthalmoparesis	6094	ROM1	ORPHA:791
HP:0000597	Ophthalmoparesis	6017	RLBP1	ORPHA:791
HP:0000597	Ophthalmoparesis	7401	CLRN1	ORPHA:791
HP:0000597	Ophthalmoparesis	24	ABCA4	ORPHA:791
HP:0000597	Ophthalmoparesis	130557	ZNF513	ORPHA:791
HP:0000597	Ophthalmoparesis	582	BBS1	ORPHA:791
HP:0000597	Ophthalmoparesis	92211	CDHR1	ORPHA:791
HP:0000597	Ophthalmoparesis	23568	ARL2BP	ORPHA:791
HP:0000597	Ophthalmoparesis	6121	RPE65	ORPHA:791
HP:0000597	Ophthalmoparesis	54806	AHI1	ORPHA:791
HP:0000597	Ophthalmoparesis	6101	RP1	ORPHA:791
HP:0000597	Ophthalmoparesis	3419	IDH3A	ORPHA:791
HP:0000597	Ophthalmoparesis	4751	NEK2	ORPHA:791
HP:0000597	Ophthalmoparesis	346007	EYS	ORPHA:791
HP:0000597	Ophthalmoparesis	8100	IFT88	ORPHA:791
HP:0000597	Ophthalmoparesis	23020	SNRNP200	ORPHA:791
HP:0000597	Ophthalmoparesis	762	CA4	ORPHA:791
HP:0000597	Ophthalmoparesis	138050	HGSNAT	ORPHA:791
HP:0000597	Ophthalmoparesis	196	AHR	ORPHA:791
HP:0000597	Ophthalmoparesis	3614	IMPDH1	ORPHA:791
HP:0000597	Ophthalmoparesis	123016	TTC8	ORPHA:791
HP:0000597	Ophthalmoparesis	6103	RPGR	ORPHA:791
HP:0000597	Ophthalmoparesis	1406	CRX	ORPHA:791
HP:0000597	Ophthalmoparesis	5148	PDE6G	ORPHA:791
HP:0000597	Ophthalmoparesis	26160	IFT172	ORPHA:791
HP:0000597	Ophthalmoparesis	26121	PRPF31	ORPHA:791
HP:0000597	Ophthalmoparesis	583	BBS2	ORPHA:791
HP:0000597	Ophthalmoparesis	4117	MAK	ORPHA:791
HP:0000597	Ophthalmoparesis	25794	FSCN2	ORPHA:791
HP:0000597	Ophthalmoparesis	375298	CERKL	ORPHA:791
HP:0000597	Ophthalmoparesis	3420	IDH3B	ORPHA:791
HP:0000597	Ophthalmoparesis	57670	KIAA1549	ORPHA:791
HP:0000597	Ophthalmoparesis	7275	TUB	ORPHA:791
HP:0000597	Ophthalmoparesis	24148	PRPF6	ORPHA:791
HP:0000597	Ophthalmoparesis	23418	CRB1	ORPHA:791
HP:0000597	Ophthalmoparesis	10461	MERTK	ORPHA:791
HP:0000597	Ophthalmoparesis	57709	SLC7A14	ORPHA:791
HP:0000597	Ophthalmoparesis	768206	PRCD	ORPHA:791
HP:0000597	Ophthalmoparesis	7399	USH2A	ORPHA:791
HP:0000597	Ophthalmoparesis	23370	ARHGEF18	ORPHA:791
HP:0000597	Ophthalmoparesis	5949	RBP3	ORPHA:791
HP:0000597	Ophthalmoparesis	6010	RHO	ORPHA:791
HP:0000597	Ophthalmoparesis	6100	RP9	ORPHA:791
HP:0000597	Ophthalmoparesis	10002	NR2E3	ORPHA:791
HP:0000597	Ophthalmoparesis	9227	LRAT	ORPHA:791
HP:0000597	Ophthalmoparesis	84140	FAM161A	ORPHA:791
HP:0000597	Ophthalmoparesis	55812	SPATA7	ORPHA:791
HP:0000597	Ophthalmoparesis	55624	POMGNT1	ORPHA:791
HP:0000597	Ophthalmoparesis	79797	ZNF408	ORPHA:791
HP:0000597	Ophthalmoparesis	403	ARL3	ORPHA:791
HP:0000597	Ophthalmoparesis	5145	PDE6A	ORPHA:791
HP:0000597	Ophthalmoparesis	10210	TOPORS	ORPHA:791
HP:0000597	Ophthalmoparesis	8842	PROM1	ORPHA:791
HP:0000597	Ophthalmoparesis	9128	PRPF4	ORPHA:791
HP:0000597	Ophthalmoparesis	145226	RDH12	ORPHA:791
HP:0000597	Ophthalmoparesis	50939	IMPG2	ORPHA:791
HP:0000597	Ophthalmoparesis	57545	CC2D2A	ORPHA:791
HP:0000597	Ophthalmoparesis	8481	OFD1	ORPHA:791
HP:0000597	Ophthalmoparesis	49855	SCAPER	ORPHA:791
HP:0000597	Ophthalmoparesis	9742	IFT140	ORPHA:791
HP:0000597	Ophthalmoparesis	2979	GUCA1B	ORPHA:791
HP:0000597	Ophthalmoparesis	1259	CNGA1	ORPHA:791
HP:0000597	Ophthalmoparesis	1258	CNGB1	ORPHA:791
HP:0000597	Ophthalmoparesis	60509	AGBL5	ORPHA:791
HP:0000597	Ophthalmoparesis	5961	PRPH2	ORPHA:791
HP:0000597	Ophthalmoparesis	388939	PCARE	ORPHA:791
HP:0000597	Ophthalmoparesis	7439	BEST1	ORPHA:791
HP:0000597	Ophthalmoparesis	9785	DHX38	ORPHA:791
HP:0000597	Ophthalmoparesis	7287	TULP1	ORPHA:791
HP:0000597	Ophthalmoparesis	5995	RGR	ORPHA:791
HP:0000597	Ophthalmoparesis	9129	PRPF3	ORPHA:791
HP:0000597	Ophthalmoparesis	55975	KLHL7	ORPHA:791
HP:0000597	Ophthalmoparesis	3617	IMPG1	ORPHA:791
HP:0000597	Ophthalmoparesis	94137	RP1L1	ORPHA:791
HP:0000597	Ophthalmoparesis	5158	PDE6B	ORPHA:791
HP:0000597	Ophthalmoparesis	6102	RP2	ORPHA:791
HP:0000597	Ophthalmoparesis	55857	KIZ	ORPHA:791
HP:0000597	Ophthalmoparesis	64218	SEMA4A	ORPHA:791
HP:0000597	Ophthalmoparesis	4901	NRL	ORPHA:791
HP:0000597	Ophthalmoparesis	157657	CFAP418	ORPHA:791
HP:0000597	Ophthalmoparesis	10594	PRPF8	ORPHA:791
HP:0000597	Ophthalmoparesis	84100	ARL6	ORPHA:791
HP:0000597	Ophthalmoparesis	6295	SAG	ORPHA:791
HP:0000597	Ophthalmoparesis	79947	DHDDS	ORPHA:791
HP:0000597	Ophthalmoparesis	91574	MTRFR	ORPHA:254930
HP:0000597	Ophthalmoparesis	91574	MTRFR	OMIM:613559
HP:0000597	Ophthalmoparesis	91574	MTRFR	ORPHA:320375
HP:0000597	Ophthalmoparesis	8106	PABPN1	ORPHA:270
HP:0000597	Ophthalmoparesis	4723	NDUFV1	OMIM:618225
HP:0000597	Ophthalmoparesis	56203	LMOD3	OMIM:616165
HP:0000597	Ophthalmoparesis	56203	LMOD3	ORPHA:171430
HP:0000597	Ophthalmoparesis	4719	NDUFS1	OMIM:618226
HP:0000597	Ophthalmoparesis	10479	SLC9A6	OMIM:300243
HP:0000597	Ophthalmoparesis	10479	SLC9A6	ORPHA:85278
HP:0000597	Ophthalmoparesis	58	ACTA1	ORPHA:171433
HP:0000597	Ophthalmoparesis	58	ACTA1	ORPHA:171430
HP:0000597	Ophthalmoparesis	58	ACTA1	ORPHA:2020
HP:0000597	Ophthalmoparesis	4703	NEB	ORPHA:171433
HP:0000597	Ophthalmoparesis	4703	NEB	ORPHA:171430
HP:0000597	Ophthalmoparesis	10324	KLHL41	ORPHA:171433
HP:0000597	Ophthalmoparesis	10324	KLHL41	ORPHA:171430
HP:0000597	Ophthalmoparesis	7170	TPM3	ORPHA:171433
HP:0000597	Ophthalmoparesis	7170	TPM3	ORPHA:2020
HP:0000597	Ophthalmoparesis	7170	TPM3	OMIM:255310
HP:0000597	Ophthalmoparesis	4649	MYO9A	OMIM:618198
HP:0000597	Ophthalmoparesis	4649	MYO9A	ORPHA:98914
HP:0000597	Ophthalmoparesis	4976	OPA1	OMIM:125250
HP:0000597	Ophthalmoparesis	4976	OPA1	ORPHA:98673
HP:0000597	Ophthalmoparesis	10059	DNM1L	ORPHA:98673
HP:0000597	Ophthalmoparesis	7259	TSPYL1	ORPHA:168593
HP:0000597	Ophthalmoparesis	4575	MT-TS2	OMIM:540000
HP:0000597	Ophthalmoparesis	4512	MT-CO1	OMIM:540000
HP:0000597	Ophthalmoparesis	4513	MT-CO2	OMIM:540000
HP:0000597	Ophthalmoparesis	4514	MT-CO3	OMIM:540000
HP:0000597	Ophthalmoparesis	4519	MT-CYB	OMIM:540000
HP:0000597	Ophthalmoparesis	4511	MT-TC	OMIM:540000
HP:0000597	Ophthalmoparesis	4572	MT-TQ	OMIM:540000
HP:0000597	Ophthalmoparesis	4558	MT-TF	OMIM:540000
HP:0000597	Ophthalmoparesis	5980	REV3L	ORPHA:570
HP:0000597	Ophthalmoparesis	23129	PLXND1	ORPHA:570
HP:0000597	Ophthalmoparesis	8888	MCM3AP	OMIM:618124
HP:0000597	Ophthalmoparesis	4509	MT-ATP8	ORPHA:254913
HP:0000597	Ophthalmoparesis	514	ATP5F1E	ORPHA:254913
HP:0000597	Ophthalmoparesis	513	ATP5F1D	ORPHA:254913
HP:0000597	Ophthalmoparesis	498	ATP5F1A	ORPHA:254913
HP:0000597	Ophthalmoparesis	84833	ATP5MK	ORPHA:254913
HP:0000597	Ophthalmoparesis	84833	ATP5MK	OMIM:618683
HP:0000597	Ophthalmoparesis	91647	ATPAF2	ORPHA:254913
HP:0000597	Ophthalmoparesis	83550	GPR101	ORPHA:963
HP:0000597	Ophthalmoparesis	9049	AIP	ORPHA:963
HP:0000597	Ophthalmoparesis	22	ABCB7	OMIM:301310
HP:0000597	Ophthalmoparesis	4547	MTTP	ORPHA:14
HP:0000597	Ophthalmoparesis	4620	MYH2	OMIM:605637
HP:0000597	Ophthalmoparesis	343641	TGM6	ORPHA:276193
HP:0000597	Ophthalmoparesis	10367	MICU1	ORPHA:401768
HP:0000597	Ophthalmoparesis	57190	SELENON	ORPHA:2020
HP:0000597	Ophthalmoparesis	4633	MYL2	ORPHA:2020
HP:0000597	Ophthalmoparesis	3679	ITGA7	ORPHA:2020
HP:0000597	Ophthalmoparesis	7169	TPM2	ORPHA:2020
HP:0000597	Ophthalmoparesis	9200	HACD1	ORPHA:2020
HP:0000597	Ophthalmoparesis	51776	MAP3K20	ORPHA:2020
HP:0000597	Ophthalmoparesis	23203	PMPCA	ORPHA:1170
HP:0000597	Ophthalmoparesis	27010	TPK1	OMIM:614458
HP:0000597	Ophthalmoparesis	3752	KCND3	ORPHA:98772
HP:0000597	Ophthalmoparesis	63895	PIEZO2	OMIM:114300
HP:0000597	Ophthalmoparesis	63895	PIEZO2	OMIM:108145
HP:0000597	Ophthalmoparesis	63895	PIEZO2	ORPHA:1154
HP:0000597	Ophthalmoparesis	8314	BAP1	ORPHA:2495
HP:0000597	Ophthalmoparesis	4771	NF2	ORPHA:2495
HP:0000597	Ophthalmoparesis	6598	SMARCB1	ORPHA:2495
HP:0000597	Ophthalmoparesis	5155	PDGFB	ORPHA:2495
HP:0000597	Ophthalmoparesis	84231	TRAF7	ORPHA:2495
HP:0000597	Ophthalmoparesis	6608	SMO	ORPHA:2495
HP:0000597	Ophthalmoparesis	207	AKT1	ORPHA:2495
HP:0000597	Ophthalmoparesis	5290	PIK3CA	ORPHA:2495
HP:0000597	Ophthalmoparesis	7015	TERT	ORPHA:2495
HP:0000597	Ophthalmoparesis	51684	SUFU	ORPHA:2495
HP:0000597	Ophthalmoparesis	6605	SMARCE1	ORPHA:2495
HP:0000597	Ophthalmoparesis	493856	CISD2	ORPHA:3463
HP:0000597	Ophthalmoparesis	7466	WFS1	ORPHA:3463
HP:0000597	Ophthalmoparesis	4893	NRAS	OMIM:163200
HP:0000597	Ophthalmoparesis	3845	KRAS	OMIM:163200
HP:0000597	Ophthalmoparesis	3265	HRAS	OMIM:163200
HP:0000597	Ophthalmoparesis	3181	HNRNPA2B1	OMIM:620460
HP:0000597	Ophthalmoparesis	6305	SBF1	OMIM:615284
HP:0000597	Ophthalmoparesis	5130	PCYT1A	ORPHA:85167
HP:0000597	Ophthalmoparesis	51816	ADA2	OMIM:615688
HP:0000597	Ophthalmoparesis	79152	FA2H	ORPHA:171629
HP:0000597	Ophthalmoparesis	6576	SLC25A1	ORPHA:98914
HP:0000597	Ophthalmoparesis	6843	VAMP1	ORPHA:98914
HP:0000597	Ophthalmoparesis	127833	SYT2	ORPHA:98914
HP:0000597	Ophthalmoparesis	6572	SLC18A3	ORPHA:98914
HP:0000597	Ophthalmoparesis	6572	SLC18A3	OMIM:617239
HP:0000597	Ophthalmoparesis	6616	SNAP25	ORPHA:98914
HP:0000597	Ophthalmoparesis	55739	NAXD	OMIM:618321
HP:0000597	Ophthalmoparesis	2629	GBA1	ORPHA:2072
HP:0000597	Ophthalmoparesis	2629	GBA1	ORPHA:77261
HP:0000597	Ophthalmoparesis	2629	GBA1	OMIM:230900
HP:0000597	Ophthalmoparesis	2629	GBA1	ORPHA:77260
HP:0000597	Ophthalmoparesis	10273	STUB1	ORPHA:412057
HP:0000597	Ophthalmoparesis	6240	RRM1	OMIM:620647
HP:0000597	Ophthalmoparesis	124454	EARS2	OMIM:614924
HP:0000597	Ophthalmoparesis	6389	SDHA	OMIM:252011
HP:0000597	Ophthalmoparesis	54936	ADPRS	OMIM:618170
HP:0000597	Ophthalmoparesis	3908	LAMA2	OMIM:607855
HP:0000597	Ophthalmoparesis	57647	DHX37	OMIM:618731
HP:0000597	Ophthalmoparesis	8803	SUCLA2	OMIM:612073
HP:0000597	Ophthalmoparesis	133686	NADK2	OMIM:616034
HP:0000597	Ophthalmoparesis	389827	MYMK	OMIM:254940
HP:0000597	Ophthalmoparesis	64221	ROBO3	OMIM:607313
HP:0000597	Ophthalmoparesis	6792	CDKL5	ORPHA:3095
HP:0000597	Ophthalmoparesis	22854	NTNG1	ORPHA:3095
HP:0000597	Ophthalmoparesis	9568	GABBR2	ORPHA:3095
HP:0000597	Ophthalmoparesis	4204	MECP2	ORPHA:3095
HP:0000597	Ophthalmoparesis	8243	SMC1A	ORPHA:3095
HP:0000597	Ophthalmoparesis	2902	GRIN1	ORPHA:208447
HP:0000597	Ophthalmoparesis	91147	TMEM67	OMIM:602152
HP:0000597	Ophthalmoparesis	55605	KIF21A	ORPHA:45358
HP:0000597	Ophthalmoparesis	347733	TUBB2B	ORPHA:45358
HP:0000597	Ophthalmoparesis	7846	TUBA1A	ORPHA:45358
HP:0000597	Ophthalmoparesis	401	PHOX2A	ORPHA:45358
HP:0000597	Ophthalmoparesis	10381	TUBB3	ORPHA:45358
HP:0000597	Ophthalmoparesis	10381	TUBB3	OMIM:600638
HP:0000597	Ophthalmoparesis	84570	COL25A1	ORPHA:45358
HP:0000597	Ophthalmoparesis	57167	SALL4	ORPHA:233
HP:0000597	Ophthalmoparesis	9935	MAFB	ORPHA:233
HP:0000597	Ophthalmoparesis	1123	CHN1	ORPHA:233
HP:0000597	Ophthalmoparesis	64072	CDH23	ORPHA:91347
HP:0000597	Ophthalmoparesis	64072	CDH23	ORPHA:2965
HP:0000597	Ophthalmoparesis	59341	TRPV4	OMIM:606071
HP:0000597	Ophthalmoparesis	4221	MEN1	ORPHA:2965
HP:0000597	Ophthalmoparesis	2475	MTOR	ORPHA:99802
HP:0000597	Ophthalmoparesis	10000	AKT3	ORPHA:99802
HP:0000597	Ophthalmoparesis	54658	UGT1A1	ORPHA:79234
HP:0000597	Ophthalmoparesis	55901	THSD1	ORPHA:231160
HP:0000597	Ophthalmoparesis	7049	TGFBR3	ORPHA:231160
HP:0000597	Ophthalmoparesis	1281	COL3A1	ORPHA:231160
HP:0000597	Ophthalmoparesis	83854	ANGPTL6	ORPHA:231160
HP:0000597	Ophthalmoparesis	2022	ENG	ORPHA:231160
HP:0000597	Ophthalmoparesis	51241	COX16	OMIM:619355
HP:0033842	Early satiety	3717	JAK2	ORPHA:729
HP:0033842	Early satiety	11231	SEC63	ORPHA:2924
HP:0033842	Early satiety	5589	PRKCSH	ORPHA:2924
HP:0033842	Early satiety	4041	LRP5	ORPHA:2924
HP:0033842	Early satiety	1890	TYMP	OMIM:603041
HP:0033842	Early satiety	5428	POLG	OMIM:603041
HP:0033842	Early satiety	6774	STAT3	OMIM:147060
HP:0000494	Downslanted palpebral fissures	1718	DHCR24	OMIM:602398
HP:0000494	Downslanted palpebral fissures	1718	DHCR24	ORPHA:35107
HP:0000494	Downslanted palpebral fissures	7528	YY1	ORPHA:506358
HP:0000494	Downslanted palpebral fissures	7528	YY1	OMIM:617557
HP:0000494	Downslanted palpebral fissures	8036	SHOC2	OMIM:607721
HP:0000494	Downslanted palpebral fissures	11253	MAN1B1	ORPHA:397941
HP:0000494	Downslanted palpebral fissures	11253	MAN1B1	OMIM:614202
HP:0000494	Downslanted palpebral fissures	26235	FBXL4	OMIM:615471
HP:0000494	Downslanted palpebral fissures	8367	H4C5	OMIM:619950
HP:0000494	Downslanted palpebral fissures	340533	NEXMIF	OMIM:300912
HP:0000494	Downslanted palpebral fissures	8294	H4C9	OMIM:619951
HP:0000494	Downslanted palpebral fissures	1139	CHRNA7	ORPHA:199318
HP:0000494	Downslanted palpebral fissures	8216	LZTR1	OMIM:616564
HP:0000494	Downslanted palpebral fissures	8216	LZTR1	ORPHA:648
HP:0000494	Downslanted palpebral fissures	8216	LZTR1	OMIM:605275
HP:0000494	Downslanted palpebral fissures	50651	SLC45A1	OMIM:617532
HP:0000494	Downslanted palpebral fissures	23334	SZT2	OMIM:615476
HP:0000494	Downslanted palpebral fissures	23334	SZT2	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	6016	RIT1	OMIM:615355
HP:0000494	Downslanted palpebral fissures	6016	RIT1	ORPHA:648
HP:0000494	Downslanted palpebral fissures	1947	EFNB1	ORPHA:1520
HP:0000494	Downslanted palpebral fissures	1947	EFNB1	OMIM:304110
HP:0000494	Downslanted palpebral fissures	51126	NAA20	OMIM:619717
HP:0000494	Downslanted palpebral fissures	2263	FGFR2	OMIM:149730
HP:0000494	Downslanted palpebral fissures	2263	FGFR2	OMIM:123790
HP:0000494	Downslanted palpebral fissures	2263	FGFR2	OMIM:101200
HP:0000494	Downslanted palpebral fissures	2263	FGFR2	OMIM:101600
HP:0000494	Downslanted palpebral fissures	2263	FGFR2	ORPHA:87
HP:0000494	Downslanted palpebral fissures	2263	FGFR2	ORPHA:1555
HP:0000494	Downslanted palpebral fissures	55627	SMPD4	OMIM:618622
HP:0000494	Downslanted palpebral fissures	81857	MED25	OMIM:616449
HP:0000494	Downslanted palpebral fissures	81857	MED25	ORPHA:464738
HP:0000494	Downslanted palpebral fissures	5927	KDM5A	OMIM:620820
HP:0000494	Downslanted palpebral fissures	5077	PAX3	ORPHA:1529
HP:0000494	Downslanted palpebral fissures	5077	PAX3	ORPHA:896
HP:0000494	Downslanted palpebral fissures	5077	PAX3	OMIM:122880
HP:0000494	Downslanted palpebral fissures	55209	SETD5	ORPHA:404440
HP:0000494	Downslanted palpebral fissures	55209	SETD5	OMIM:615761
HP:0000494	Downslanted palpebral fissures	5781	PTPN11	OMIM:156250
HP:0000494	Downslanted palpebral fissures	5781	PTPN11	ORPHA:648
HP:0000494	Downslanted palpebral fissures	5781	PTPN11	OMIM:163950
HP:0000494	Downslanted palpebral fissures	10743	RAI1	ORPHA:477817
HP:0000494	Downslanted palpebral fissures	10743	RAI1	ORPHA:1713
HP:0000494	Downslanted palpebral fissures	116931	MED12L	OMIM:618872
HP:0000494	Downslanted palpebral fissures	9578	CDC42BPB	OMIM:619841
HP:0000494	Downslanted palpebral fissures	3020	H3-3A	OMIM:619720
HP:0000494	Downslanted palpebral fissures	80816	ASXL3	OMIM:615485
HP:0000494	Downslanted palpebral fissures	80816	ASXL3	ORPHA:352577
HP:0000494	Downslanted palpebral fissures	55790	CSGALNACT1	OMIM:618870
HP:0000494	Downslanted palpebral fissures	1723	DHODH	OMIM:263750
HP:0000494	Downslanted palpebral fissures	1723	DHODH	ORPHA:246
HP:0000494	Downslanted palpebral fissures	27245	AHDC1	ORPHA:412069
HP:0000494	Downslanted palpebral fissures	27245	AHDC1	OMIM:615829
HP:0000494	Downslanted palpebral fissures	55690	PACS1	OMIM:615009
HP:0000494	Downslanted palpebral fissures	55690	PACS1	ORPHA:329224
HP:0000494	Downslanted palpebral fissures	55904	KMT2E	OMIM:618512
HP:0000494	Downslanted palpebral fissures	5728	PTEN	ORPHA:2969
HP:0000494	Downslanted palpebral fissures	5728	PTEN	ORPHA:79076
HP:0000494	Downslanted palpebral fissures	23384	SPECC1L	ORPHA:1519
HP:0000494	Downslanted palpebral fissures	23384	SPECC1L	OMIM:145420
HP:0000494	Downslanted palpebral fissures	3190	HNRNPK	OMIM:616580
HP:0000494	Downslanted palpebral fissures	2590	GALNT2	OMIM:618885
HP:0000494	Downslanted palpebral fissures	54453	RIN2	OMIM:613075
HP:0000494	Downslanted palpebral fissures	54453	RIN2	ORPHA:217335
HP:0000494	Downslanted palpebral fissures	25885	POLR1A	OMIM:616462
HP:0000494	Downslanted palpebral fissures	113189	CHST14	ORPHA:2953
HP:0000494	Downslanted palpebral fissures	113189	CHST14	OMIM:601776
HP:0000494	Downslanted palpebral fissures	29940	DSE	ORPHA:2953
HP:0000494	Downslanted palpebral fissures	29940	DSE	OMIM:615539
HP:0000494	Downslanted palpebral fissures	79029	AFG2B	OMIM:619616
HP:0000494	Downslanted palpebral fissures	7021	TFAP2B	ORPHA:46627
HP:0000494	Downslanted palpebral fissures	815	CAMK2A	OMIM:617798
HP:0000494	Downslanted palpebral fissures	23545	ATP6V0A2	ORPHA:2834
HP:0000494	Downslanted palpebral fissures	23545	ATP6V0A2	OMIM:278250
HP:0000494	Downslanted palpebral fissures	23545	ATP6V0A2	OMIM:219200
HP:0000494	Downslanted palpebral fissures	23545	ATP6V0A2	ORPHA:357074
HP:0000494	Downslanted palpebral fissures	4853	NOTCH2	OMIM:102500
HP:0000494	Downslanted palpebral fissures	4853	NOTCH2	ORPHA:955
HP:0000494	Downslanted palpebral fissures	9968	MED12	ORPHA:93932
HP:0000494	Downslanted palpebral fissures	9968	MED12	OMIM:305450
HP:0000494	Downslanted palpebral fissures	9968	MED12	OMIM:300895
HP:0000494	Downslanted palpebral fissures	10381	TUBB3	ORPHA:300570
HP:0000494	Downslanted palpebral fissures	64359	NXN	ORPHA:1507
HP:0000494	Downslanted palpebral fissures	4920	ROR2	ORPHA:1507
HP:0000494	Downslanted palpebral fissures	4920	ROR2	OMIM:268310
HP:0000494	Downslanted palpebral fissures	157680	VPS13B	OMIM:216550
HP:0000494	Downslanted palpebral fissures	157680	VPS13B	ORPHA:193
HP:0000494	Downslanted palpebral fissures	2626	GATA4	ORPHA:251071
HP:0000494	Downslanted palpebral fissures	9401	RECQL4	OMIM:218600
HP:0000494	Downslanted palpebral fissures	6872	TAF1	ORPHA:480907
HP:0000494	Downslanted palpebral fissures	6872	TAF1	OMIM:300966
HP:0000494	Downslanted palpebral fissures	1105	CHD1	OMIM:617682
HP:0000494	Downslanted palpebral fissures	1105	CHD1	ORPHA:529965
HP:0000494	Downslanted palpebral fissures	8726	EED	OMIM:617561
HP:0000494	Downslanted palpebral fissures	10815	CPLX1	ORPHA:280
HP:0000494	Downslanted palpebral fissures	54872	PIGG	ORPHA:280
HP:0000494	Downslanted palpebral fissures	7469	NELFA	ORPHA:280
HP:0000494	Downslanted palpebral fissures	1487	CTBP1	ORPHA:280
HP:0000494	Downslanted palpebral fissures	3954	LETM1	ORPHA:280
HP:0000494	Downslanted palpebral fissures	7468	NSD2	ORPHA:280
HP:0000494	Downslanted palpebral fissures	5159	PDGFRB	OMIM:616592
HP:0000494	Downslanted palpebral fissures	4330	MN1	OMIM:618774
HP:0000494	Downslanted palpebral fissures	1501	CTNND2	ORPHA:281
HP:0000494	Downslanted palpebral fissures	9037	SEMA5A	ORPHA:281
HP:0000494	Downslanted palpebral fissures	5528	PPP2R5D	OMIM:616355
HP:0000494	Downslanted palpebral fissures	5528	PPP2R5D	ORPHA:457279
HP:0000494	Downslanted palpebral fissures	64121	RRAGC	OMIM:620609
HP:0000494	Downslanted palpebral fissures	56992	KIF15	OMIM:619981
HP:0000494	Downslanted palpebral fissures	56992	KIF15	ORPHA:261323
HP:0000494	Downslanted palpebral fissures	57178	ZMIZ1	OMIM:618659
HP:0000494	Downslanted palpebral fissures	200734	SPRED2	OMIM:619745
HP:0000494	Downslanted palpebral fissures	200734	SPRED2	ORPHA:648
HP:0000494	Downslanted palpebral fissures	11193	WBP4	OMIM:620852
HP:0000494	Downslanted palpebral fissures	3737	KCNA2	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	1759	DNM1	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	8120	AP3B2	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	523	ATP6V1A	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	523	ATP6V1A	ORPHA:357074
HP:0000494	Downslanted palpebral fissures	523	ATP6V1A	OMIM:617403
HP:0000494	Downslanted palpebral fissures	10991	SLC38A3	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	51343	FZR1	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	3747	KCNC2	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	1917	EEF1A2	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	1917	EEF1A2	OMIM:616393
HP:0000494	Downslanted palpebral fissures	23219	FBXO28	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	2561	GABRB2	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	8831	SYNGAP1	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	2558	GABRA5	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	2906	GRIN2D	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	116150	NUS1	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	1213	CLTC	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	51741	WWOX	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	348980	HCN1	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	25977	NECAP1	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	23241	PACS2	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	23241	PACS2	OMIM:618067
HP:0000494	Downslanted palpebral fissures	16	AARS1	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	6334	SCN8A	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	9568	GABBR2	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	2555	GABRA2	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	55152	DALRD3	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	26999	CYFIP2	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	4915	NTRK2	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	25973	PARS2	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	23097	CDK19	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	2257	FGF12	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	5530	PPP3CA	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	478	ATP1A3	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	22906	TRAK1	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	2566	GABRG2	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	7532	YWHAG	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	79876	UBA5	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	6328	SCN3A	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	781	CACNA2D1	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	10659	CELF2	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	774	CACNA1B	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	51412	ACTL6B	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	2290	FOXG1	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	2290	FOXG1	ORPHA:261144
HP:0000494	Downslanted palpebral fissures	6506	SLC1A2	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	8867	SYNJ1	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	477	ATP1A2	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	3745	KCNB1	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	284111	SLC13A5	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	22866	CNKSR2	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	773	CACNA1A	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	6323	SCN1A	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	79947	DHDDS	ORPHA:442835
HP:0000494	Downslanted palpebral fissures	55623	THUMPD1	OMIM:619989
HP:0000494	Downslanted palpebral fissures	4929	NR4A2	ORPHA:1617
HP:0000494	Downslanted palpebral fissures	10716	TBR1	ORPHA:1617
HP:0000494	Downslanted palpebral fissures	26834	RNU4-2	OMIM:620851
HP:0000494	Downslanted palpebral fissures	4247	MGAT2	OMIM:212066
HP:0000494	Downslanted palpebral fissures	4247	MGAT2	ORPHA:79329
HP:0000494	Downslanted palpebral fissures	2316	FLNA	ORPHA:90650
HP:0000494	Downslanted palpebral fissures	2316	FLNA	ORPHA:90652
HP:0000494	Downslanted palpebral fissures	2316	FLNA	OMIM:304120
HP:0000494	Downslanted palpebral fissures	2316	FLNA	ORPHA:1826
HP:0000494	Downslanted palpebral fissures	2316	FLNA	OMIM:311300
HP:0000494	Downslanted palpebral fissures	2316	FLNA	OMIM:305620
HP:0000494	Downslanted palpebral fissures	2316	FLNA	OMIM:300048
HP:0000494	Downslanted palpebral fissures	3476	IGBP1	ORPHA:52055
HP:0000494	Downslanted palpebral fissures	3476	IGBP1	OMIM:300472
HP:0000494	Downslanted palpebral fissures	92482	BBIP1	ORPHA:110
HP:0000494	Downslanted palpebral fissures	80184	CEP290	ORPHA:110
HP:0000494	Downslanted palpebral fissures	11020	IFT27	ORPHA:110
HP:0000494	Downslanted palpebral fissures	582	BBS1	ORPHA:110
HP:0000494	Downslanted palpebral fissures	49855	SCAPER	ORPHA:110
HP:0000494	Downslanted palpebral fissures	4867	NPHP1	ORPHA:110
HP:0000494	Downslanted palpebral fissures	51057	WDPCP	ORPHA:110
HP:0000494	Downslanted palpebral fissures	132320	SCLT1	ORPHA:110
HP:0000494	Downslanted palpebral fissures	27241	BBS9	ORPHA:110
HP:0000494	Downslanted palpebral fissures	84984	CEP19	ORPHA:110
HP:0000494	Downslanted palpebral fissures	22954	TRIM32	ORPHA:110
HP:0000494	Downslanted palpebral fissures	54903	MKS1	ORPHA:110
HP:0000494	Downslanted palpebral fissures	79738	BBS10	ORPHA:110
HP:0000494	Downslanted palpebral fissures	123016	TTC8	ORPHA:110
HP:0000494	Downslanted palpebral fissures	26160	IFT172	ORPHA:110
HP:0000494	Downslanted palpebral fissures	583	BBS2	ORPHA:110
HP:0000494	Downslanted palpebral fissures	583	BBS2	OMIM:615981
HP:0000494	Downslanted palpebral fissures	585	BBS4	ORPHA:110
HP:0000494	Downslanted palpebral fissures	8195	MKKS	ORPHA:110
HP:0000494	Downslanted palpebral fissures	54585	LZTFL1	ORPHA:110
HP:0000494	Downslanted palpebral fissures	55212	BBS7	ORPHA:110
HP:0000494	Downslanted palpebral fissures	166379	BBS12	ORPHA:110
HP:0000494	Downslanted palpebral fissures	10806	SDCCAG8	ORPHA:110
HP:0000494	Downslanted palpebral fissures	157657	CFAP418	ORPHA:110
HP:0000494	Downslanted palpebral fissures	84100	ARL6	ORPHA:110
HP:0000494	Downslanted palpebral fissures	129880	BBS5	ORPHA:110
HP:0000494	Downslanted palpebral fissures	80173	IFT74	ORPHA:110
HP:0000494	Downslanted palpebral fissures	5518	PPP2R1A	OMIM:616362
HP:0000494	Downslanted palpebral fissures	253738	EBF3	OMIM:617330
HP:0000494	Downslanted palpebral fissures	253738	EBF3	ORPHA:96148
HP:0000494	Downslanted palpebral fissures	23312	DMXL2	OMIM:618663
HP:0000494	Downslanted palpebral fissures	1182	CLCN3	OMIM:619512
HP:0000494	Downslanted palpebral fissures	23512	SUZ12	OMIM:618786
HP:0000494	Downslanted palpebral fissures	23512	SUZ12	ORPHA:3447
HP:0000494	Downslanted palpebral fissures	3590	IL11RA	OMIM:614188
HP:0000494	Downslanted palpebral fissures	7862	BRPF1	OMIM:617333
HP:0000494	Downslanted palpebral fissures	23126	POGZ	OMIM:616364
HP:0000494	Downslanted palpebral fissures	57680	CHD8	OMIM:615032
HP:0000494	Downslanted palpebral fissures	23461	ABCA5	OMIM:135400
HP:0000494	Downslanted palpebral fissures	8558	CDK10	OMIM:617694
HP:0000494	Downslanted palpebral fissures	51633	OTUD6B	OMIM:617452
HP:0000494	Downslanted palpebral fissures	51633	OTUD6B	ORPHA:505237
HP:0000494	Downslanted palpebral fissures	3572	IL6ST	OMIM:619750
HP:0000494	Downslanted palpebral fissures	5048	PAFAH1B1	ORPHA:217385
HP:0000494	Downslanted palpebral fissures	7531	YWHAE	ORPHA:217385
HP:0000494	Downslanted palpebral fissures	6899	TBX1	ORPHA:1727
HP:0000494	Downslanted palpebral fissures	6899	TBX1	ORPHA:567
HP:0000494	Downslanted palpebral fissures	145258	GSC	OMIM:602471
HP:0000494	Downslanted palpebral fissures	2248	FGF3	OMIM:610706
HP:0000494	Downslanted palpebral fissures	2248	FGF3	ORPHA:90024
HP:0000494	Downslanted palpebral fissures	85365	ALG2	ORPHA:79326
HP:0000494	Downslanted palpebral fissures	26137	ZBTB20	OMIM:259050
HP:0000494	Downslanted palpebral fissures	26137	ZBTB20	ORPHA:3042
HP:0000494	Downslanted palpebral fissures	8314	BAP1	OMIM:619762
HP:0000494	Downslanted palpebral fissures	7750	ZMYM2	OMIM:619522
HP:0000494	Downslanted palpebral fissures	27086	FOXP1	ORPHA:391372
HP:0000494	Downslanted palpebral fissures	27086	FOXP1	OMIM:613670
HP:0000494	Downslanted palpebral fissures	53335	BCL11A	OMIM:617101
HP:0000494	Downslanted palpebral fissures	9158	FIBP	OMIM:617107
HP:0000494	Downslanted palpebral fissures	9158	FIBP	ORPHA:500095
HP:0000494	Downslanted palpebral fissures	4621	MYH3	OMIM:618436
HP:0000494	Downslanted palpebral fissures	4621	MYH3	OMIM:178110
HP:0000494	Downslanted palpebral fissures	4621	MYH3	ORPHA:2053
HP:0000494	Downslanted palpebral fissures	4621	MYH3	ORPHA:2990
HP:0000494	Downslanted palpebral fissures	57492	ARID1B	ORPHA:251056
HP:0000494	Downslanted palpebral fissures	57492	ARID1B	OMIM:135900
HP:0000494	Downslanted palpebral fissures	51163	DBR1	OMIM:620510
HP:0000494	Downslanted palpebral fissures	57688	ZSWIM6	OMIM:603671
HP:0000494	Downslanted palpebral fissures	7030	TFE3	OMIM:301066
HP:0000494	Downslanted palpebral fissures	2239	GPC4	ORPHA:373
HP:0000494	Downslanted palpebral fissures	2239	GPC4	OMIM:312870
HP:0000494	Downslanted palpebral fissures	2719	GPC3	ORPHA:373
HP:0000494	Downslanted palpebral fissures	2719	GPC3	OMIM:312870
HP:0000494	Downslanted palpebral fissures	259232	NALCN	OMIM:616266
HP:0000494	Downslanted palpebral fissures	259232	NALCN	ORPHA:2053
HP:0000494	Downslanted palpebral fissures	259232	NALCN	ORPHA:562528
HP:0000494	Downslanted palpebral fissures	259232	NALCN	ORPHA:371364
HP:0000494	Downslanted palpebral fissures	57479	PRR12	OMIM:619539
HP:0000494	Downslanted palpebral fissures	2260	FGFR1	OMIM:166250
HP:0000494	Downslanted palpebral fissures	2260	FGFR1	OMIM:101600
HP:0000494	Downslanted palpebral fissures	2260	FGFR1	ORPHA:2117
HP:0000494	Downslanted palpebral fissures	4087	SMAD2	OMIM:619656
HP:0000494	Downslanted palpebral fissures	85459	CEP295	OMIM:620767
HP:0000494	Downslanted palpebral fissures	6885	MAP3K7	ORPHA:1826
HP:0000494	Downslanted palpebral fissures	6885	MAP3K7	OMIM:617137
HP:0000494	Downslanted palpebral fissures	8813	DPM1	ORPHA:79322
HP:0000494	Downslanted palpebral fissures	8813	DPM1	OMIM:608799
HP:0000494	Downslanted palpebral fissures	10262	SF3B4	ORPHA:245
HP:0000494	Downslanted palpebral fissures	10262	SF3B4	OMIM:154400
HP:0000494	Downslanted palpebral fissures	6595	SMARCA2	OMIM:601358
HP:0000494	Downslanted palpebral fissures	6595	SMARCA2	ORPHA:3051
HP:0000494	Downslanted palpebral fissures	91252	SLC39A13	ORPHA:157965
HP:0000494	Downslanted palpebral fissures	91252	SLC39A13	OMIM:612350
HP:0000494	Downslanted palpebral fissures	117581	TWIST2	ORPHA:1807
HP:0000494	Downslanted palpebral fissures	1387	CREBBP	OMIM:618332
HP:0000494	Downslanted palpebral fissures	1387	CREBBP	OMIM:180849
HP:0000494	Downslanted palpebral fissures	1387	CREBBP	ORPHA:353277
HP:0000494	Downslanted palpebral fissures	6261	RYR1	OMIM:619542
HP:0000494	Downslanted palpebral fissures	9533	POLR1C	OMIM:248390
HP:0000494	Downslanted palpebral fissures	9533	POLR1C	ORPHA:861
HP:0000494	Downslanted palpebral fissures	7046	TGFBR1	OMIM:609192
HP:0000494	Downslanted palpebral fissures	5908	RAP1B	OMIM:620654
HP:0000494	Downslanted palpebral fissures	27145	FILIP1	OMIM:620775
HP:0000494	Downslanted palpebral fissures	6654	SOS1	OMIM:610733
HP:0000494	Downslanted palpebral fissures	6654	SOS1	ORPHA:648
HP:0000494	Downslanted palpebral fissures	140679	SLC32A1	OMIM:620774
HP:0000494	Downslanted palpebral fissures	1801	DPH1	ORPHA:459061
HP:0000494	Downslanted palpebral fissures	1801	DPH1	OMIM:616901
HP:0000494	Downslanted palpebral fissures	1802	DPH2	ORPHA:459061
HP:0000494	Downslanted palpebral fissures	389827	MYMK	OMIM:254940
HP:0000494	Downslanted palpebral fissures	389827	MYMK	ORPHA:1358
HP:0000494	Downslanted palpebral fissures	5813	PURA	ORPHA:314655
HP:0000494	Downslanted palpebral fissures	9949	AMMECR1	OMIM:300990
HP:0000494	Downslanted palpebral fissures	9949	AMMECR1	ORPHA:86818
HP:0000494	Downslanted palpebral fissures	2737	GLI3	ORPHA:672
HP:0000494	Downslanted palpebral fissures	2737	GLI3	OMIM:175700
HP:0000494	Downslanted palpebral fissures	8925	HERC1	OMIM:617011
HP:0000494	Downslanted palpebral fissures	8925	HERC1	ORPHA:457359
HP:0000494	Downslanted palpebral fissures	23013	SPEN	OMIM:619312
HP:0000494	Downslanted palpebral fissures	5351	PLOD1	OMIM:225400
HP:0000494	Downslanted palpebral fissures	56896	DPYSL5	OMIM:619435
HP:0000494	Downslanted palpebral fissures	56896	DPYSL5	ORPHA:7
HP:0000494	Downslanted palpebral fissures	6477	SIAH1	OMIM:619314
HP:0000494	Downslanted palpebral fissures	4598	MVK	ORPHA:29
HP:0000494	Downslanted palpebral fissures	4598	MVK	OMIM:610377
HP:0000494	Downslanted palpebral fissures	54517	PUS7	OMIM:618342
HP:0000494	Downslanted palpebral fissures	10765	KDM5B	OMIM:618109
HP:0000494	Downslanted palpebral fissures	8573	CASK	OMIM:300749
HP:0000494	Downslanted palpebral fissures	23314	SATB2	ORPHA:251028
HP:0000494	Downslanted palpebral fissures	23314	SATB2	ORPHA:251019
HP:0000494	Downslanted palpebral fissures	23314	SATB2	OMIM:612313
HP:0000494	Downslanted palpebral fissures	5396	PRRX1	OMIM:202650
HP:0000494	Downslanted palpebral fissures	6418	SET	OMIM:618106
HP:0000494	Downslanted palpebral fissures	2200	FBN1	ORPHA:284979
HP:0000494	Downslanted palpebral fissures	2200	FBN1	OMIM:616914
HP:0000494	Downslanted palpebral fissures	2200	FBN1	ORPHA:2462
HP:0000494	Downslanted palpebral fissures	2200	FBN1	OMIM:154700
HP:0000494	Downslanted palpebral fissures	2202	EFEMP1	OMIM:620780
HP:0000494	Downslanted palpebral fissures	27125	AFF4	ORPHA:444077
HP:0000494	Downslanted palpebral fissures	55315	SLC29A3	OMIM:602782
HP:0000494	Downslanted palpebral fissures	7372	UMPS	ORPHA:30
HP:0000494	Downslanted palpebral fissures	7707	ZNF148	OMIM:617260
HP:0000494	Downslanted palpebral fissures	91754	NEK9	OMIM:617022
HP:0000494	Downslanted palpebral fissures	650	BMP2	ORPHA:261295
HP:0000494	Downslanted palpebral fissures	650	BMP2	OMIM:617877
HP:0000494	Downslanted palpebral fissures	9871	SEC24D	OMIM:616294
HP:0000494	Downslanted palpebral fissures	9871	SEC24D	ORPHA:2050
HP:0000494	Downslanted palpebral fissures	29998	BICRA	OMIM:619325
HP:0000494	Downslanted palpebral fissures	6651	SON	OMIM:617140
HP:0000494	Downslanted palpebral fissures	6651	SON	ORPHA:500150
HP:0000494	Downslanted palpebral fissures	9342	SNAP29	ORPHA:66631
HP:0000494	Downslanted palpebral fissures	9342	SNAP29	OMIM:609528
HP:0000494	Downslanted palpebral fissures	2033	EP300	ORPHA:353284
HP:0000494	Downslanted palpebral fissures	2033	EP300	OMIM:180849
HP:0000494	Downslanted palpebral fissures	2033	EP300	OMIM:613684
HP:0000494	Downslanted palpebral fissures	1289	COL5A1	OMIM:619329
HP:0000494	Downslanted palpebral fissures	3417	IDH1	ORPHA:99646
HP:0000494	Downslanted palpebral fissures	56975	FAM20C	OMIM:259775
HP:0000494	Downslanted palpebral fissures	161725	OTUD7A	OMIM:620790
HP:0000494	Downslanted palpebral fissures	4763	NF1	OMIM:601321
HP:0000494	Downslanted palpebral fissures	4763	NF1	ORPHA:97685
HP:0000494	Downslanted palpebral fissures	4763	NF1	ORPHA:638
HP:0000494	Downslanted palpebral fissures	4763	NF1	OMIM:162200
HP:0000494	Downslanted palpebral fissures	83999	KREMEN1	OMIM:617392
HP:0000494	Downslanted palpebral fissures	3039	HBA1	ORPHA:98791
HP:0000494	Downslanted palpebral fissures	3040	HBA2	ORPHA:98791
HP:0000494	Downslanted palpebral fissures	51132	RLIM	OMIM:300978
HP:0000494	Downslanted palpebral fissures	4052	LTBP1	OMIM:619451
HP:0000494	Downslanted palpebral fissures	8260	NAA10	OMIM:300855
HP:0000494	Downslanted palpebral fissures	8260	NAA10	ORPHA:276432
HP:0000494	Downslanted palpebral fissures	5831	PYCR1	OMIM:612940
HP:0000494	Downslanted palpebral fissures	23476	BRD4	OMIM:620568
HP:0000494	Downslanted palpebral fissures	201163	FLCN	OMIM:610883
HP:0000494	Downslanted palpebral fissures	29920	PYCR2	ORPHA:481152
HP:0000494	Downslanted palpebral fissures	29920	PYCR2	OMIM:616420
HP:0000494	Downslanted palpebral fissures	3183	HNRNPC	OMIM:620688
HP:0000494	Downslanted palpebral fissures	92344	GORAB	OMIM:231070
HP:0000494	Downslanted palpebral fissures	1312	COMT	ORPHA:567
HP:0000494	Downslanted palpebral fissures	221037	JMJD1C	ORPHA:567
HP:0000494	Downslanted palpebral fissures	2812	GP1BB	ORPHA:567
HP:0000494	Downslanted palpebral fissures	6239	RREB1	ORPHA:567
HP:0000494	Downslanted palpebral fissures	7290	HIRA	ORPHA:567
HP:0000494	Downslanted palpebral fissures	9632	SEC24C	ORPHA:567
HP:0000494	Downslanted palpebral fissures	7353	UFD1	ORPHA:567
HP:0000494	Downslanted palpebral fissures	421	ARVCF	ORPHA:567
HP:0000494	Downslanted palpebral fissures	7136	TNNI2	OMIM:601680
HP:0000494	Downslanted palpebral fissures	1009	CDH11	OMIM:211380
HP:0000494	Downslanted palpebral fissures	1009	CDH11	ORPHA:1299
HP:0000494	Downslanted palpebral fissures	444	ASPH	OMIM:601552
HP:0000494	Downslanted palpebral fissures	7703	PCGF2	OMIM:618371
HP:0000494	Downslanted palpebral fissures	23111	SPART	ORPHA:101000
HP:0000494	Downslanted palpebral fissures	25942	SIN3A	ORPHA:94065
HP:0000494	Downslanted palpebral fissures	25942	SIN3A	OMIM:613406
HP:0000494	Downslanted palpebral fissures	9509	ADAMTS2	OMIM:225410
HP:0000494	Downslanted palpebral fissures	10524	KAT5	OMIM:619103
HP:0000494	Downslanted palpebral fissures	372	ARCN1	OMIM:617164
HP:0000494	Downslanted palpebral fissures	633	BGN	OMIM:300989
HP:0000494	Downslanted palpebral fissures	22808	MRAS	OMIM:618499
HP:0000494	Downslanted palpebral fissures	22808	MRAS	ORPHA:648
HP:0000494	Downslanted palpebral fissures	26040	SETBP1	OMIM:616078
HP:0000494	Downslanted palpebral fissures	2475	MTOR	ORPHA:457485
HP:0000494	Downslanted palpebral fissures	2475	MTOR	OMIM:616638
HP:0000494	Downslanted palpebral fissures	6304	SATB1	OMIM:619229
HP:0000494	Downslanted palpebral fissures	9343	EFTUD2	OMIM:610536
HP:0000494	Downslanted palpebral fissures	91039	DPP9	OMIM:620331
HP:0000494	Downslanted palpebral fissures	23594	ORC6	OMIM:613803
HP:0000494	Downslanted palpebral fissures	7291	TWIST1	OMIM:180750
HP:0000494	Downslanted palpebral fissures	6874	TAF4	OMIM:620450
HP:0000494	Downslanted palpebral fissures	5913	RAPSN	OMIM:618388
HP:0000494	Downslanted palpebral fissures	285489	DOK7	OMIM:618389
HP:0000494	Downslanted palpebral fissures	134218	DNAJC21	OMIM:617052
HP:0000494	Downslanted palpebral fissures	5977	DPF2	OMIM:618027
HP:0000494	Downslanted palpebral fissures	79005	SCNM1	OMIM:620107
HP:0000494	Downslanted palpebral fissures	285590	SH3PXD2B	ORPHA:137834
HP:0000494	Downslanted palpebral fissures	285590	SH3PXD2B	OMIM:249420
HP:0000494	Downslanted palpebral fissures	10283	CWC27	OMIM:250410
HP:0000494	Downslanted palpebral fissures	10283	CWC27	ORPHA:166035
HP:0000494	Downslanted palpebral fissures	1836	SLC26A2	ORPHA:628
HP:0000494	Downslanted palpebral fissures	246329	STAC3	ORPHA:168572
HP:0000494	Downslanted palpebral fissures	246329	STAC3	OMIM:255995
HP:0000494	Downslanted palpebral fissures	207	AKT1	ORPHA:744
HP:0000494	Downslanted palpebral fissures	207	AKT1	OMIM:176920
HP:0000494	Downslanted palpebral fissures	11198	SUPT16H	OMIM:619480
HP:0000494	Downslanted palpebral fissures	84172	POLR1B	ORPHA:861
HP:0000494	Downslanted palpebral fissures	84172	POLR1B	OMIM:618939
HP:0000494	Downslanted palpebral fissures	51082	POLR1D	ORPHA:861
HP:0000494	Downslanted palpebral fissures	51082	POLR1D	OMIM:613717
HP:0000494	Downslanted palpebral fissures	6949	TCOF1	ORPHA:861
HP:0000494	Downslanted palpebral fissures	6949	TCOF1	OMIM:154500
HP:0000494	Downslanted palpebral fissures	7204	TRIO	OMIM:617061
HP:0000494	Downslanted palpebral fissures	7204	TRIO	OMIM:618825
HP:0000494	Downslanted palpebral fissures	5290	PIK3CA	OMIM:602501
HP:0000494	Downslanted palpebral fissures	2571	GAD1	OMIM:619124
HP:0000494	Downslanted palpebral fissures	23067	SETD1B	OMIM:619000
HP:0000494	Downslanted palpebral fissures	23112	TNRC6B	OMIM:619243
HP:0000494	Downslanted palpebral fissures	8450	CUL4B	ORPHA:85293
HP:0000494	Downslanted palpebral fissures	64093	SMOC1	OMIM:206920
HP:0000494	Downslanted palpebral fissures	22995	CEP152	OMIM:613823
HP:0000494	Downslanted palpebral fissures	22995	CEP152	ORPHA:808
HP:0000494	Downslanted palpebral fissures	93587	TRMT10A	ORPHA:391408
HP:0000494	Downslanted palpebral fissures	84919	PPP1R15B	ORPHA:391408
HP:0000494	Downslanted palpebral fissures	84919	PPP1R15B	OMIM:616817
HP:0000494	Downslanted palpebral fissures	673	BRAF	OMIM:613707
HP:0000494	Downslanted palpebral fissures	673	BRAF	OMIM:613706
HP:0000494	Downslanted palpebral fissures	673	BRAF	OMIM:115150
HP:0000494	Downslanted palpebral fissures	673	BRAF	ORPHA:1340
HP:0000494	Downslanted palpebral fissures	673	BRAF	OMIM:163950
HP:0000494	Downslanted palpebral fissures	6329	SCN4A	OMIM:620351
HP:0000494	Downslanted palpebral fissures	6329	SCN4A	OMIM:620369
HP:0000494	Downslanted palpebral fissures	80267	EDEM3	OMIM:619493
HP:0000494	Downslanted palpebral fissures	57020	VPS35L	OMIM:619135
HP:0000494	Downslanted palpebral fissures	57020	VPS35L	ORPHA:7
HP:0000494	Downslanted palpebral fissures	4781	NFIB	OMIM:618286
HP:0000494	Downslanted palpebral fissures	1984	EIF5A	OMIM:619376
HP:0000494	Downslanted palpebral fissures	2733	GLE1	OMIM:611890
HP:0000494	Downslanted palpebral fissures	8481	OFD1	OMIM:300804
HP:0000494	Downslanted palpebral fissures	8481	OFD1	OMIM:311200
HP:0000494	Downslanted palpebral fissures	8481	OFD1	ORPHA:2750
HP:0000494	Downslanted palpebral fissures	22800	RRAS2	ORPHA:648
HP:0000494	Downslanted palpebral fissures	867	CBL	ORPHA:648
HP:0000494	Downslanted palpebral fissures	867	CBL	OMIM:613563
HP:0000494	Downslanted palpebral fissures	6237	RRAS	ORPHA:648
HP:0000494	Downslanted palpebral fissures	5894	RAF1	ORPHA:648
HP:0000494	Downslanted palpebral fissures	5894	RAF1	OMIM:611554
HP:0000494	Downslanted palpebral fissures	5894	RAF1	OMIM:611553
HP:0000494	Downslanted palpebral fissures	3845	KRAS	ORPHA:648
HP:0000494	Downslanted palpebral fissures	3845	KRAS	ORPHA:1340
HP:0000494	Downslanted palpebral fissures	3845	KRAS	OMIM:609942
HP:0000494	Downslanted palpebral fissures	4893	NRAS	ORPHA:648
HP:0000494	Downslanted palpebral fissures	4893	NRAS	OMIM:613224
HP:0000494	Downslanted palpebral fissures	6655	SOS2	ORPHA:648
HP:0000494	Downslanted palpebral fissures	6655	SOS2	OMIM:616559
HP:0000494	Downslanted palpebral fissures	5922	RASA2	ORPHA:648
HP:0000494	Downslanted palpebral fissures	84081	NSRP1	OMIM:620001
HP:0000494	Downslanted palpebral fissures	7474	WNT5A	OMIM:180700
HP:0000494	Downslanted palpebral fissures	7474	WNT5A	ORPHA:3107
HP:0000494	Downslanted palpebral fissures	1855	DVL1	OMIM:180700
HP:0000494	Downslanted palpebral fissures	1855	DVL1	ORPHA:3107
HP:0000494	Downslanted palpebral fissures	5727	PTCH1	ORPHA:77301
HP:0000494	Downslanted palpebral fissures	9897	WASHC5	ORPHA:7
HP:0000494	Downslanted palpebral fissures	9897	WASHC5	OMIM:220210
HP:0000494	Downslanted palpebral fissures	28952	CCDC22	ORPHA:7
HP:0000494	Downslanted palpebral fissures	1795	DOCK3	OMIM:618292
HP:0000494	Downslanted palpebral fissures	51626	DYNC2LI1	OMIM:617088
HP:0000494	Downslanted palpebral fissures	80704	SLC19A3	ORPHA:263410
HP:0000494	Downslanted palpebral fissures	90121	TSR2	OMIM:300946
HP:0000494	Downslanted palpebral fissures	2261	FGFR3	OMIM:602849
HP:0000494	Downslanted palpebral fissures	51109	RDH11	ORPHA:436245
HP:0000494	Downslanted palpebral fissures	7042	TGFB2	OMIM:614816
HP:0000494	Downslanted palpebral fissures	5605	MAP2K2	ORPHA:638
HP:0000494	Downslanted palpebral fissures	5605	MAP2K2	ORPHA:1340
HP:0000494	Downslanted palpebral fissures	283450	HECTD4	OMIM:620250
HP:0000494	Downslanted palpebral fissures	8085	KMT2D	OMIM:147920
HP:0000494	Downslanted palpebral fissures	8085	KMT2D	OMIM:620186
HP:0000494	Downslanted palpebral fissures	7403	KDM6A	OMIM:147920
HP:0000494	Downslanted palpebral fissures	8243	SMC1A	OMIM:300590
HP:0000494	Downslanted palpebral fissures	8243	SMC1A	OMIM:301044
HP:0000494	Downslanted palpebral fissures	7337	UBE3A	ORPHA:238446
HP:0000494	Downslanted palpebral fissures	58499	ZNF462	ORPHA:502430
HP:0000494	Downslanted palpebral fissures	58499	ZNF462	OMIM:618619
HP:0000494	Downslanted palpebral fissures	54084	TSPEAR	OMIM:618180
HP:0000494	Downslanted palpebral fissures	324	APC	ORPHA:261584
HP:0000494	Downslanted palpebral fissures	324	APC	ORPHA:3258
HP:0000494	Downslanted palpebral fissures	6309	SC5D	ORPHA:46059
HP:0000494	Downslanted palpebral fissures	1183	CLCN4	OMIM:300114
HP:0000494	Downslanted palpebral fissures	10491	CRTAP	ORPHA:2050
HP:0000494	Downslanted palpebral fissures	5034	P4HB	ORPHA:2050
HP:0000494	Downslanted palpebral fissures	26128	KIFBP	OMIM:609460
HP:0000494	Downslanted palpebral fissures	161742	SPRED1	OMIM:611431
HP:0000494	Downslanted palpebral fissures	84282	RNF135	ORPHA:137634
HP:0000494	Downslanted palpebral fissures	8854	ALDH1A2	OMIM:620025
HP:0000494	Downslanted palpebral fissures	9839	ZEB2	OMIM:235730
HP:0000494	Downslanted palpebral fissures	1299	COL9A3	OMIM:620022
HP:0000494	Downslanted palpebral fissures	64324	NSD1	ORPHA:821
HP:0000494	Downslanted palpebral fissures	64324	NSD1	OMIM:117550
HP:0000494	Downslanted palpebral fissures	64324	NSD1	ORPHA:3447
HP:0000494	Downslanted palpebral fissures	10297	APC2	ORPHA:821
HP:0000494	Downslanted palpebral fissures	4784	NFIX	ORPHA:447980
HP:0000494	Downslanted palpebral fissures	4784	NFIX	ORPHA:420179
HP:0000494	Downslanted palpebral fissures	4784	NFIX	OMIM:614753
HP:0000494	Downslanted palpebral fissures	374654	KIF7	OMIM:200990
HP:0000494	Downslanted palpebral fissures	1717	DHCR7	ORPHA:818
HP:0000494	Downslanted palpebral fissures	23431	AP4E1	OMIM:613744
HP:0000494	Downslanted palpebral fissures	25782	RAB3GAP2	OMIM:212720
HP:0000494	Downslanted palpebral fissures	5818	NECTIN1	ORPHA:3253
HP:0000494	Downslanted palpebral fissures	29072	SETD2	OMIM:620157
HP:0000494	Downslanted palpebral fissures	29072	SETD2	OMIM:620155
HP:0000494	Downslanted palpebral fissures	29072	SETD2	OMIM:616831
HP:0000494	Downslanted palpebral fissures	150468	CKAP2L	ORPHA:3255
HP:0000494	Downslanted palpebral fissures	271	AMPD2	OMIM:615809
HP:0000494	Downslanted palpebral fissures	9382	COG1	OMIM:611209
HP:0000494	Downslanted palpebral fissures	9382	COG1	ORPHA:263508
HP:0000494	Downslanted palpebral fissures	4038	LRP4	ORPHA:3258
HP:0000494	Downslanted palpebral fissures	4038	LRP4	OMIM:212780
HP:0000494	Downslanted palpebral fissures	6197	RPS6KA3	OMIM:303600
HP:0000494	Downslanted palpebral fissures	6197	RPS6KA3	ORPHA:276630
HP:0000494	Downslanted palpebral fissures	6197	RPS6KA3	ORPHA:192
HP:0000494	Downslanted palpebral fissures	1146	CHRNG	OMIM:265000
HP:0000494	Downslanted palpebral fissures	1146	CHRNG	ORPHA:2990
HP:0000494	Downslanted palpebral fissures	9739	SETD1A	OMIM:619056
HP:0000494	Downslanted palpebral fissures	80204	FBXO11	OMIM:618089
HP:0000494	Downslanted palpebral fissures	23522	KAT6B	OMIM:606170
HP:0000494	Downslanted palpebral fissures	26523	AGO1	OMIM:620292
HP:0000494	Downslanted palpebral fissures	9184	BUB3	ORPHA:1052
HP:0000494	Downslanted palpebral fissures	699	BUB1	ORPHA:1052
HP:0000494	Downslanted palpebral fissures	9702	CEP57	ORPHA:1052
HP:0000494	Downslanted palpebral fissures	9702	CEP57	OMIM:614114
HP:0000494	Downslanted palpebral fissures	9319	TRIP13	ORPHA:1052
HP:0000494	Downslanted palpebral fissures	701	BUB1B	ORPHA:1052
HP:0000494	Downslanted palpebral fissures	55148	UBR7	OMIM:619189
HP:0000494	Downslanted palpebral fissures	10682	EBP	ORPHA:35173
HP:0000494	Downslanted palpebral fissures	10682	EBP	OMIM:302960
HP:0000494	Downslanted palpebral fissures	55636	CHD7	OMIM:214800
HP:0000494	Downslanted palpebral fissures	4036	LRP2	ORPHA:2143
HP:0000494	Downslanted palpebral fissures	4036	LRP2	OMIM:222448
HP:0000494	Downslanted palpebral fissures	1301	COL11A1	ORPHA:2021
HP:0000494	Downslanted palpebral fissures	1302	COL11A2	ORPHA:2021
HP:0000494	Downslanted palpebral fissures	657	BMPR1A	ORPHA:79076
HP:0000494	Downslanted palpebral fissures	526	ATP6V1B2	ORPHA:3473
HP:0000494	Downslanted palpebral fissures	3756	KCNH1	ORPHA:3473
HP:0000494	Downslanted palpebral fissures	3782	KCNN3	ORPHA:3473
HP:0000494	Downslanted palpebral fissures	3265	HRAS	OMIM:218040
HP:0000494	Downslanted palpebral fissures	2697	GJA1	OMIM:257850
HP:0000494	Downslanted palpebral fissures	6234	RPS28	OMIM:606164
HP:0000494	Downslanted palpebral fissures	4953	ODC1	OMIM:619075
HP:0000494	Downslanted palpebral fissures	4953	ODC1	ORPHA:544488
HP:0000494	Downslanted palpebral fissures	197257	LDHD	OMIM:245450
HP:0000494	Downslanted palpebral fissures	1857	DVL3	ORPHA:3107
HP:0000494	Downslanted palpebral fissures	2535	FZD2	ORPHA:3107
HP:0000494	Downslanted palpebral fissures	6660	SOX5	OMIM:616803
HP:0000494	Downslanted palpebral fissures	26053	AUTS2	OMIM:615834
HP:0000494	Downslanted palpebral fissures	8239	USP9X	ORPHA:480880
HP:0000494	Downslanted palpebral fissures	285175	UNC80	OMIM:616801
HP:0000494	Downslanted palpebral fissures	285175	UNC80	ORPHA:371364
HP:0000494	Downslanted palpebral fissures	11128	POLR3A	OMIM:264090
HP:0000494	Downslanted palpebral fissures	55719	SLF2	OMIM:620184
HP:0000494	Downslanted palpebral fissures	55027	HEATR3	OMIM:620072
HP:0000494	Downslanted palpebral fissures	283209	PGM2L1	OMIM:620191
HP:0000494	Downslanted palpebral fissures	78989	COLEC11	OMIM:265050
HP:0000494	Downslanted palpebral fissures	78989	COLEC11	ORPHA:293843
HP:0000494	Downslanted palpebral fissures	4094	MAF	ORPHA:1272
HP:0000494	Downslanted palpebral fissures	4094	MAF	OMIM:601088
HP:0000494	Downslanted palpebral fissures	5594	MAPK1	OMIM:619087
HP:0000494	Downslanted palpebral fissures	23261	CAMTA1	OMIM:614756
HP:0000494	Downslanted palpebral fissures	54499	TMCO1	ORPHA:1394
HP:0000494	Downslanted palpebral fissures	10430	TMEM147	OMIM:620075
HP:0000494	Downslanted palpebral fissures	3187	HNRNPH1	OMIM:620083
HP:0000494	Downslanted palpebral fissures	51322	WAC	ORPHA:284169
HP:0000494	Downslanted palpebral fissures	81031	SLC2A10	OMIM:208050
HP:0000494	Downslanted palpebral fissures	9652	SKIC3	OMIM:222470
HP:0000494	Downslanted palpebral fissures	8504	PEX3	OMIM:614882
HP:0000494	Downslanted palpebral fissures	2146	EZH2	OMIM:277590
HP:0000494	Downslanted palpebral fissures	2146	EZH2	ORPHA:3447
HP:0000494	Downslanted palpebral fissures	545	ATR	ORPHA:808
HP:0000494	Downslanted palpebral fissures	545	ATR	OMIM:210600
HP:0000494	Downslanted palpebral fissures	1062	CENPE	ORPHA:808
HP:0000494	Downslanted palpebral fissures	5116	PCNT	ORPHA:808
HP:0000494	Downslanted palpebral fissures	5116	PCNT	ORPHA:2637
HP:0000494	Downslanted palpebral fissures	5932	RBBP8	ORPHA:808
HP:0000494	Downslanted palpebral fissures	79902	NUP85	ORPHA:808
HP:0000494	Downslanted palpebral fissures	84126	ATRIP	ORPHA:808
HP:0000494	Downslanted palpebral fissures	10293	TRAIP	ORPHA:808
HP:0000494	Downslanted palpebral fissures	1763	DNA2	ORPHA:808
HP:0000494	Downslanted palpebral fissures	10733	PLK4	ORPHA:808
HP:0000494	Downslanted palpebral fissures	84317	CCDC115	OMIM:616828
HP:0000494	Downslanted palpebral fissures	79791	FBXO31	OMIM:615979
HP:0000494	Downslanted palpebral fissures	157570	ESCO2	OMIM:268300
HP:0000494	Downslanted palpebral fissures	5631	PRPS1	OMIM:300661
HP:0000494	Downslanted palpebral fissures	29123	ANKRD11	OMIM:148050
HP:0000494	Downslanted palpebral fissures	22907	DHX30	OMIM:617804
HP:0000494	Downslanted palpebral fissures	51053	GMNN	OMIM:616835
HP:0000494	Downslanted palpebral fissures	2245	FGD1	ORPHA:915
HP:0000494	Downslanted palpebral fissures	2245	FGD1	OMIM:305400
HP:0000494	Downslanted palpebral fissures	10664	CTCF	OMIM:615502
HP:0000494	Downslanted palpebral fissures	6497	SKI	ORPHA:2462
HP:0000494	Downslanted palpebral fissures	6497	SKI	OMIM:182212
HP:0000494	Downslanted palpebral fissures	196528	ARID2	OMIM:617808
HP:0000494	Downslanted palpebral fissures	3720	JARID2	OMIM:620098
HP:0000494	Downslanted palpebral fissures	10075	HUWE1	OMIM:309590
HP:0000494	Downslanted palpebral fissures	5648	MASP1	OMIM:257920
HP:0000494	Downslanted palpebral fissures	5648	MASP1	ORPHA:293843
HP:0000494	Downslanted palpebral fissures	23394	ADNP	OMIM:615873
HP:0000494	Downslanted palpebral fissures	11133	KPTN	OMIM:615637
HP:0000494	Downslanted palpebral fissures	11133	KPTN	ORPHA:397612
HP:0000494	Downslanted palpebral fissures	65062	TMEM237	OMIM:614424
HP:0000494	Downslanted palpebral fissures	23028	KDM1A	OMIM:616728
HP:0000494	Downslanted palpebral fissures	23028	KDM1A	ORPHA:477993
HP:0000494	Downslanted palpebral fissures	55593	OTUD5	OMIM:301056
HP:0000494	Downslanted palpebral fissures	4854	NOTCH3	OMIM:130720
HP:0000494	Downslanted palpebral fissures	4854	NOTCH3	ORPHA:2789
HP:0000494	Downslanted palpebral fissures	473	RERE	OMIM:616975
HP:0000494	Downslanted palpebral fissures	83479	DDX59	OMIM:174300
HP:0000494	Downslanted palpebral fissures	998	CDC42	OMIM:616737
HP:0000494	Downslanted palpebral fissures	998	CDC42	ORPHA:487796
HP:0000494	Downslanted palpebral fissures	30008	EFEMP2	OMIM:614437
HP:0000494	Downslanted palpebral fissures	10982	MAPRE2	OMIM:616734
HP:0000494	Downslanted palpebral fissures	4297	KMT2A	OMIM:605130
HP:0000494	Downslanted palpebral fissures	101929726	MYMX	ORPHA:1358
HP:0000494	Downslanted palpebral fissures	84679	SLC9A7	OMIM:301024
HP:0000494	Downslanted palpebral fissures	90161	HS6ST2	OMIM:301025
HP:0000494	Downslanted palpebral fissures	63035	BCORL1	OMIM:301029
HP:0000494	Downslanted palpebral fissures	1778	DYNC1H1	OMIM:614563
HP:0000494	Downslanted palpebral fissures	5604	MAP2K1	ORPHA:1340
HP:0000494	Downslanted palpebral fissures	5604	MAP2K1	OMIM:163950
HP:0000494	Downslanted palpebral fissures	1000	CDH2	OMIM:618929
HP:0000494	Downslanted palpebral fissures	10943	MSL3	OMIM:301032
HP:0000494	Downslanted palpebral fissures	5718	PSMD12	ORPHA:529962
HP:0000494	Downslanted palpebral fissures	2186	BPTF	ORPHA:529962
HP:0000494	Downslanted palpebral fissures	55644	OSGEP	OMIM:617729
HP:0000494	Downslanted palpebral fissures	2313	FLI1	ORPHA:2308
HP:0000494	Downslanted palpebral fissures	538	ATP7A	ORPHA:198
HP:0000494	Downslanted palpebral fissures	6628	SNRPB	OMIM:117650
HP:0000494	Downslanted palpebral fissures	8929	PHOX2B	OMIM:209880
HP:0000494	Downslanted palpebral fissures	1859	DYRK1A	OMIM:614104
HP:0000494	Downslanted palpebral fissures	29957	SLC25A24	OMIM:612289
HP:0000494	Downslanted palpebral fissures	91461	PKDCC	OMIM:618821
HP:0000494	Downslanted palpebral fissures	4329	ALDH6A1	OMIM:614105
HP:0000494	Downslanted palpebral fissures	80152	CENPT	OMIM:618702
HP:0000494	Downslanted palpebral fissures	8405	SPOP	OMIM:618828
HP:0000494	Downslanted palpebral fissures	26047	CNTNAP2	ORPHA:163681
HP:0000494	Downslanted palpebral fissures	23630	KCNE5	ORPHA:86818
HP:0000494	Downslanted palpebral fissures	2182	ACSL4	ORPHA:86818
HP:0000494	Downslanted palpebral fissures	55617	TASP1	OMIM:618950
HP:0000494	Downslanted palpebral fissures	100151683	RNU4ATAC	OMIM:616651
HP:0000494	Downslanted palpebral fissures	100151683	RNU4ATAC	ORPHA:2636
HP:0000494	Downslanted palpebral fissures	1806	DPYD	ORPHA:1675
HP:0000494	Downslanted palpebral fissures	5500	PPP1CB	OMIM:617506
HP:0000494	Downslanted palpebral fissures	113246	C12orf57	OMIM:218340
HP:0000494	Downslanted palpebral fissures	2273	FHL1	OMIM:300280
HP:0000494	Downslanted palpebral fissures	4841	NONO	ORPHA:466791
HP:0000494	Downslanted palpebral fissures	529	ATP6V1E1	ORPHA:357074
HP:0000494	Downslanted palpebral fissures	158326	FREM1	OMIM:614485
HP:0000494	Downslanted palpebral fissures	4000	LMNA	ORPHA:1662
HP:0000494	Downslanted palpebral fissures	10269	ZMPSTE24	ORPHA:1662
HP:0000494	Downslanted palpebral fissures	8777	MPDZ	OMIM:615219
HP:0000494	Downslanted palpebral fissures	10584	COLEC10	ORPHA:293843
HP:0000494	Downslanted palpebral fissures	3778	KCNMA1	OMIM:618729
HP:0000494	Downslanted palpebral fissures	71	ACTG1	ORPHA:2995
HP:0000494	Downslanted palpebral fissures	60	ACTB	ORPHA:2995
HP:0000494	Downslanted palpebral fissures	6223	RPS19	OMIM:105650
HP:0000494	Downslanted palpebral fissures	9469	CHST3	OMIM:245600
HP:0000494	Downslanted palpebral fissures	26229	B3GAT3	OMIM:245600
HP:0000494	Downslanted palpebral fissures	139886	SPIN4	OMIM:301114
HP:0000494	Downslanted palpebral fissures	5307	PITX1	OMIM:119800
HP:0000494	Downslanted palpebral fissures	18	ABAT	OMIM:613163
HP:0000494	Downslanted palpebral fissures	3832	KIF11	OMIM:152950
HP:0000494	Downslanted palpebral fissures	7043	TGFB3	OMIM:615582
HP:0000494	Downslanted palpebral fissures	7543	ZFX	OMIM:301118
HP:0000494	Downslanted palpebral fissures	7545	ZIC1	OMIM:618736
HP:0000494	Downslanted palpebral fissures	4281	MID1	ORPHA:2745
HP:0000494	Downslanted palpebral fissures	4858	NOVA2	OMIM:618859
HP:0000494	Downslanted palpebral fissures	9181	ARHGEF2	OMIM:617523
HP:0000494	Downslanted palpebral fissures	4654	MYOD1	OMIM:618975
HP:0000494	Downslanted palpebral fissures	55753	OGDHL	OMIM:619701
HP:0007715	Weak extraocular muscles	8314	BAP1	ORPHA:2495
HP:0007715	Weak extraocular muscles	4771	NF2	ORPHA:2495
HP:0007715	Weak extraocular muscles	6598	SMARCB1	ORPHA:2495
HP:0007715	Weak extraocular muscles	5155	PDGFB	ORPHA:2495
HP:0007715	Weak extraocular muscles	84231	TRAF7	ORPHA:2495
HP:0007715	Weak extraocular muscles	6608	SMO	ORPHA:2495
HP:0007715	Weak extraocular muscles	207	AKT1	ORPHA:2495
HP:0007715	Weak extraocular muscles	5290	PIK3CA	ORPHA:2495
HP:0007715	Weak extraocular muscles	7015	TERT	ORPHA:2495
HP:0007715	Weak extraocular muscles	51684	SUFU	ORPHA:2495
HP:0007715	Weak extraocular muscles	6605	SMARCE1	ORPHA:2495
HP:0007715	Weak extraocular muscles	88	ACTN2	OMIM:618654
HP:0007716	Uveal melanoma	8314	BAP1	OMIM:614327
HP:0007716	Uveal melanoma	8314	BAP1	OMIM:606661
HP:0007716	Uveal melanoma	8930	MBD4	OMIM:619975
HP:0007716	Uveal melanoma	8930	MBD4	OMIM:606660
HP:0007716	Uveal melanoma	673	BRAF	OMIM:155600
HP:0007716	Uveal melanoma	6794	STK11	OMIM:155600
HP:0007716	Uveal melanoma	57105	CYSLTR2	ORPHA:39044
HP:0007716	Uveal melanoma	2776	GNAQ	ORPHA:39044
HP:0007716	Uveal melanoma	2767	GNA11	ORPHA:39044
HP:0007716	Uveal melanoma	23451	SF3B1	ORPHA:39044
HP:0007717	Chronic irritative conjunctivitis	8626	TP63	ORPHA:69085
HP:0000567	Chorioretinal coloboma	60	ACTB	OMIM:243310
HP:0000567	Chorioretinal coloboma	57167	SALL4	ORPHA:233
HP:0000567	Chorioretinal coloboma	57167	SALL4	ORPHA:959
HP:0000567	Chorioretinal coloboma	9935	MAFB	ORPHA:233
HP:0000567	Chorioretinal coloboma	1123	CHN1	ORPHA:233
HP:0000567	Chorioretinal coloboma	64840	PORCN	OMIM:305600
HP:0000567	Chorioretinal coloboma	64840	PORCN	ORPHA:2092
HP:0000567	Chorioretinal coloboma	54880	BCOR	OMIM:309800
HP:0000567	Chorioretinal coloboma	54880	BCOR	ORPHA:568
HP:0000567	Chorioretinal coloboma	8260	NAA10	OMIM:309800
HP:0000567	Chorioretinal coloboma	8260	NAA10	ORPHA:568
HP:0000567	Chorioretinal coloboma	57545	CC2D2A	OMIM:619111
HP:0000567	Chorioretinal coloboma	57545	CC2D2A	ORPHA:2318
HP:0000567	Chorioretinal coloboma	57545	CC2D2A	ORPHA:1454
HP:0000567	Chorioretinal coloboma	6711	SPTBN1	OMIM:619475
HP:0000567	Chorioretinal coloboma	51259	TMEM216	OMIM:608091
HP:0000567	Chorioretinal coloboma	51259	TMEM216	ORPHA:2318
HP:0000567	Chorioretinal coloboma	56623	INPP5E	OMIM:213300
HP:0000567	Chorioretinal coloboma	56623	INPP5E	ORPHA:1454
HP:0000567	Chorioretinal coloboma	10413	YAP1	OMIM:120433
HP:0000567	Chorioretinal coloboma	10413	YAP1	ORPHA:1473
HP:0000567	Chorioretinal coloboma	9839	ZEB2	OMIM:235730
HP:0000567	Chorioretinal coloboma	6469	SHH	OMIM:611638
HP:0000567	Chorioretinal coloboma	207	AKT1	ORPHA:744
HP:0000567	Chorioretinal coloboma	79759	ZNF668	OMIM:620194
HP:0000567	Chorioretinal coloboma	6299	SALL1	OMIM:107480
HP:0000567	Chorioretinal coloboma	6299	SALL1	ORPHA:857
HP:0000567	Chorioretinal coloboma	64412	GZF1	OMIM:617662
HP:0000567	Chorioretinal coloboma	3149	HMGB3	OMIM:300915
HP:0000567	Chorioretinal coloboma	4149	MAX	OMIM:620712
HP:0000567	Chorioretinal coloboma	51339	DACT1	ORPHA:857
HP:0000567	Chorioretinal coloboma	9573	GDF3	OMIM:613702
HP:0000567	Chorioretinal coloboma	5080	PAX6	OMIM:120200
HP:0000567	Chorioretinal coloboma	55636	CHD7	ORPHA:138
HP:0000567	Chorioretinal coloboma	9723	SEMA3E	ORPHA:138
HP:0000567	Chorioretinal coloboma	113246	C12orf57	OMIM:218340
HP:0000567	Chorioretinal coloboma	51322	WAC	ORPHA:284169
HP:0000567	Chorioretinal coloboma	473	RERE	ORPHA:494344
HP:0000567	Chorioretinal coloboma	652	BMP4	ORPHA:139471
HP:0000567	Chorioretinal coloboma	57020	VPS35L	OMIM:619135
HP:0000567	Chorioretinal coloboma	57020	VPS35L	ORPHA:7
HP:0000567	Chorioretinal coloboma	149461	CLDN19	ORPHA:2196
HP:0000567	Chorioretinal coloboma	55733	HHAT	ORPHA:1422
HP:0000567	Chorioretinal coloboma	9487	PIGL	OMIM:280000
HP:0000567	Chorioretinal coloboma	8777	MPDZ	OMIM:615219
HP:0000567	Chorioretinal coloboma	5950	RBP4	OMIM:616428
HP:0000567	Chorioretinal coloboma	91147	TMEM67	OMIM:610688
HP:0000567	Chorioretinal coloboma	91147	TMEM67	ORPHA:1454
HP:0000567	Chorioretinal coloboma	4990	SIX6	OMIM:212550
HP:0000567	Chorioretinal coloboma	3166	HMX1	OMIM:612109
HP:0000567	Chorioretinal coloboma	79583	TMEM231	ORPHA:2318
HP:0000567	Chorioretinal coloboma	51524	TMEM138	ORPHA:2318
HP:0000567	Chorioretinal coloboma	23090	ZNF423	ORPHA:2318
HP:0000567	Chorioretinal coloboma	80184	CEP290	ORPHA:2318
HP:0000567	Chorioretinal coloboma	65062	TMEM237	ORPHA:2318
HP:0000567	Chorioretinal coloboma	6496	SIX3	OMIM:157170
HP:0000567	Chorioretinal coloboma	50945	TBX22	ORPHA:921
HP:0000567	Chorioretinal coloboma	9897	WASHC5	ORPHA:7
HP:0000567	Chorioretinal coloboma	28952	CCDC22	ORPHA:7
HP:0000567	Chorioretinal coloboma	56896	DPYSL5	ORPHA:7
HP:0000567	Chorioretinal coloboma	23322	RPGRIP1L	ORPHA:1454
HP:0000567	Chorioretinal coloboma	7855	FZD5	OMIM:620731
HP:0000567	Chorioretinal coloboma	10058	ABCB6	OMIM:614497
HP:0007911	Congenital bilateral ptosis	3479	IGF1	ORPHA:73272
HP:0007710	Peripheral vitreous opacities	4693	NDP	OMIM:305390
HP:0000520	Proptosis	2137	EXTL3	ORPHA:508533
HP:0000520	Proptosis	50964	SOST	OMIM:269500
HP:0000520	Proptosis	2077	ERF	OMIM:600775
HP:0000520	Proptosis	2077	ERF	ORPHA:207
HP:0000520	Proptosis	2077	ERF	OMIM:617180
HP:0000520	Proptosis	3763	KCNJ6	ORPHA:435628
HP:0000520	Proptosis	3763	KCNJ6	OMIM:614098
HP:0000520	Proptosis	4287	ATXN3	OMIM:109150
HP:0000520	Proptosis	4287	ATXN3	ORPHA:276238
HP:0000520	Proptosis	4287	ATXN3	ORPHA:276244
HP:0000520	Proptosis	4287	ATXN3	ORPHA:276241
HP:0000520	Proptosis	10491	CRTAP	ORPHA:2050
HP:0000520	Proptosis	10491	CRTAP	OMIM:610682
HP:0000520	Proptosis	9871	SEC24D	ORPHA:2050
HP:0000520	Proptosis	9871	SEC24D	OMIM:616294
HP:0000520	Proptosis	5034	P4HB	ORPHA:2050
HP:0000520	Proptosis	5034	P4HB	OMIM:112240
HP:0000520	Proptosis	28981	IFT81	OMIM:617895
HP:0000520	Proptosis	652	BMP4	ORPHA:828
HP:0000520	Proptosis	673	BRAF	OMIM:115150
HP:0000520	Proptosis	775	CACNA1C	OMIM:620029
HP:0000520	Proptosis	7253	TSHR	ORPHA:99819
HP:0000520	Proptosis	7253	TSHR	OMIM:609152
HP:0000520	Proptosis	5927	KDM5A	OMIM:620820
HP:0000520	Proptosis	2261	FGFR3	ORPHA:53271
HP:0000520	Proptosis	2261	FGFR3	ORPHA:93274
HP:0000520	Proptosis	2261	FGFR3	ORPHA:93262
HP:0000520	Proptosis	2261	FGFR3	ORPHA:1860
HP:0000520	Proptosis	2261	FGFR3	ORPHA:35099
HP:0000520	Proptosis	2261	FGFR3	OMIM:612247
HP:0000520	Proptosis	2261	FGFR3	OMIM:602849
HP:0000520	Proptosis	7068	THRB	OMIM:274300
HP:0000520	Proptosis	4125	MAN2B1	ORPHA:309282
HP:0000520	Proptosis	6662	SOX9	ORPHA:140
HP:0000520	Proptosis	80816	ASXL3	OMIM:615485
HP:0000520	Proptosis	2317	FLNB	ORPHA:1190
HP:0000520	Proptosis	2317	FLNB	OMIM:108720
HP:0000520	Proptosis	1855	DVL1	OMIM:616331
HP:0000520	Proptosis	1855	DVL1	ORPHA:3107
HP:0000520	Proptosis	1855	DVL1	OMIM:180700
HP:0000520	Proptosis	79639	TMEM53	OMIM:619727
HP:0000520	Proptosis	5184	PEPD	OMIM:170100
HP:0000520	Proptosis	5184	PEPD	ORPHA:742
HP:0000520	Proptosis	4000	LMNA	OMIM:248370
HP:0000520	Proptosis	4000	LMNA	OMIM:619793
HP:0000520	Proptosis	4000	LMNA	ORPHA:90153
HP:0000520	Proptosis	4000	LMNA	OMIM:151660
HP:0000520	Proptosis	1717	DHCR7	ORPHA:818
HP:0000520	Proptosis	23384	SPECC1L	ORPHA:1519
HP:0000520	Proptosis	10978	CLP1	OMIM:615803
HP:0000520	Proptosis	10978	CLP1	ORPHA:411493
HP:0000520	Proptosis	9382	COG1	OMIM:611209
HP:0000520	Proptosis	4038	LRP4	ORPHA:3258
HP:0000520	Proptosis	324	APC	ORPHA:3258
HP:0000520	Proptosis	64175	P3H1	OMIM:610915
HP:0000520	Proptosis	2263	FGFR2	ORPHA:87
HP:0000520	Proptosis	2263	FGFR2	ORPHA:93260
HP:0000520	Proptosis	2263	FGFR2	ORPHA:93258
HP:0000520	Proptosis	2263	FGFR2	ORPHA:93259
HP:0000520	Proptosis	2263	FGFR2	OMIM:123790
HP:0000520	Proptosis	2263	FGFR2	OMIM:101200
HP:0000520	Proptosis	2263	FGFR2	OMIM:123500
HP:0000520	Proptosis	2263	FGFR2	OMIM:207410
HP:0000520	Proptosis	2263	FGFR2	ORPHA:207
HP:0000520	Proptosis	2263	FGFR2	ORPHA:1555
HP:0000520	Proptosis	2263	FGFR2	OMIM:123150
HP:0000520	Proptosis	2263	FGFR2	ORPHA:1540
HP:0000520	Proptosis	6452	SH3BP2	OMIM:118400
HP:0000520	Proptosis	6452	SH3BP2	ORPHA:184
HP:0000520	Proptosis	7040	TGFB1	OMIM:131300
HP:0000520	Proptosis	7040	TGFB1	ORPHA:1328
HP:0000520	Proptosis	80204	FBXO11	OMIM:618089
HP:0000520	Proptosis	64359	NXN	OMIM:618529
HP:0000520	Proptosis	64359	NXN	ORPHA:1507
HP:0000520	Proptosis	8792	TNFRSF11A	OMIM:612301
HP:0000520	Proptosis	93627	TBCK	OMIM:616900
HP:0000520	Proptosis	1009	CDH11	OMIM:619736
HP:0000520	Proptosis	1009	CDH11	ORPHA:1299
HP:0000520	Proptosis	1009	CDH11	OMIM:211380
HP:0000520	Proptosis	4920	ROR2	ORPHA:1507
HP:0000520	Proptosis	4920	ROR2	OMIM:268310
HP:0000520	Proptosis	672	BRCA1	ORPHA:84
HP:0000520	Proptosis	10459	MAD2L2	ORPHA:84
HP:0000520	Proptosis	7516	XRCC2	ORPHA:84
HP:0000520	Proptosis	29089	UBE2T	ORPHA:84
HP:0000520	Proptosis	675	BRCA2	ORPHA:84
HP:0000520	Proptosis	55120	FANCL	ORPHA:84
HP:0000520	Proptosis	2177	FANCD2	ORPHA:84
HP:0000520	Proptosis	2175	FANCA	ORPHA:84
HP:0000520	Proptosis	2187	FANCB	ORPHA:84
HP:0000520	Proptosis	2176	FANCC	ORPHA:84
HP:0000520	Proptosis	2178	FANCE	ORPHA:84
HP:0000520	Proptosis	2188	FANCF	ORPHA:84
HP:0000520	Proptosis	2189	FANCG	ORPHA:84
HP:0000520	Proptosis	5888	RAD51	ORPHA:84
HP:0000520	Proptosis	5889	RAD51C	ORPHA:84
HP:0000520	Proptosis	55159	RFWD3	ORPHA:84
HP:0000520	Proptosis	83990	BRIP1	ORPHA:84
HP:0000520	Proptosis	57697	FANCM	ORPHA:84
HP:0000520	Proptosis	79728	PALB2	ORPHA:84
HP:0000520	Proptosis	84464	SLX4	ORPHA:84
HP:0000520	Proptosis	2072	ERCC4	ORPHA:84
HP:0000520	Proptosis	55215	FANCI	ORPHA:84
HP:0000520	Proptosis	2260	FGFR1	ORPHA:93258
HP:0000520	Proptosis	2260	FGFR1	OMIM:166250
HP:0000520	Proptosis	2260	FGFR1	OMIM:123150
HP:0000520	Proptosis	3339	HSPG2	ORPHA:1865
HP:0000520	Proptosis	4524	MTHFR	ORPHA:563612
HP:0000520	Proptosis	57216	VANGL2	ORPHA:563612
HP:0000520	Proptosis	1281	COL3A1	ORPHA:286
HP:0000520	Proptosis	171023	ASXL1	ORPHA:97297
HP:0000520	Proptosis	171023	ASXL1	OMIM:605039
HP:0000520	Proptosis	9896	FIG4	ORPHA:3472
HP:0000520	Proptosis	9896	FIG4	OMIM:216340
HP:0000520	Proptosis	55697	VAC14	ORPHA:3472
HP:0000520	Proptosis	10815	CPLX1	ORPHA:280
HP:0000520	Proptosis	10815	CPLX1	OMIM:194190
HP:0000520	Proptosis	10815	CPLX1	ORPHA:352582
HP:0000520	Proptosis	54872	PIGG	ORPHA:280
HP:0000520	Proptosis	7469	NELFA	ORPHA:280
HP:0000520	Proptosis	1487	CTBP1	ORPHA:280
HP:0000520	Proptosis	1487	CTBP1	OMIM:194190
HP:0000520	Proptosis	3954	LETM1	ORPHA:280
HP:0000520	Proptosis	3954	LETM1	OMIM:194190
HP:0000520	Proptosis	7468	NSD2	ORPHA:280
HP:0000520	Proptosis	7468	NSD2	OMIM:194190
HP:0000520	Proptosis	5159	PDGFRB	OMIM:616592
HP:0000520	Proptosis	5159	PDGFRB	OMIM:601812
HP:0000520	Proptosis	5424	POLD1	OMIM:615381
HP:0000520	Proptosis	26053	AUTS2	ORPHA:352490
HP:0000520	Proptosis	26053	AUTS2	OMIM:615834
HP:0000520	Proptosis	1301	COL11A1	OMIM:228520
HP:0000520	Proptosis	1301	COL11A1	ORPHA:2021
HP:0000520	Proptosis	1301	COL11A1	ORPHA:440354
HP:0000520	Proptosis	1301	COL11A1	ORPHA:560
HP:0000520	Proptosis	23327	NEDD4L	OMIM:617201
HP:0000520	Proptosis	1280	COL2A1	ORPHA:90653
HP:0000520	Proptosis	1280	COL2A1	ORPHA:485
HP:0000520	Proptosis	1280	COL2A1	ORPHA:93315
HP:0000520	Proptosis	1280	COL2A1	OMIM:156550
HP:0000520	Proptosis	267010	RNU12	ORPHA:85199
HP:0000520	Proptosis	4036	LRP2	ORPHA:2143
HP:0000520	Proptosis	4036	LRP2	OMIM:222448
HP:0000520	Proptosis	11193	WBP4	OMIM:620852
HP:0000520	Proptosis	1302	COL11A2	ORPHA:2021
HP:0000520	Proptosis	1302	COL11A2	OMIM:215150
HP:0000520	Proptosis	1302	COL11A2	ORPHA:1427
HP:0000520	Proptosis	79158	GNPTAB	OMIM:252600
HP:0000520	Proptosis	79158	GNPTAB	ORPHA:423461
HP:0000520	Proptosis	53834	FGFRL1	OMIM:194190
HP:0000520	Proptosis	2200	FBN1	OMIM:616914
HP:0000520	Proptosis	2200	FBN1	ORPHA:2462
HP:0000520	Proptosis	2313	FLI1	ORPHA:370348
HP:0000520	Proptosis	2296	FOXC1	OMIM:602482
HP:0000520	Proptosis	26227	PHGDH	OMIM:256520
HP:0000520	Proptosis	26154	ABCA12	OMIM:242500
HP:0000520	Proptosis	11285	B4GALT7	OMIM:130070
HP:0000520	Proptosis	5447	POR	OMIM:201750
HP:0000520	Proptosis	5447	POR	OMIM:207410
HP:0000520	Proptosis	4593	MUSK	OMIM:208150
HP:0000520	Proptosis	3590	IL11RA	OMIM:614188
HP:0000520	Proptosis	54914	FOCAD	OMIM:619991
HP:0000520	Proptosis	1593	CYP27A1	ORPHA:909
HP:0000520	Proptosis	1857	DVL3	ORPHA:3107
HP:0000520	Proptosis	1857	DVL3	OMIM:616894
HP:0000520	Proptosis	7474	WNT5A	ORPHA:3107
HP:0000520	Proptosis	7474	WNT5A	OMIM:180700
HP:0000520	Proptosis	2535	FZD2	ORPHA:3107
HP:0000520	Proptosis	27125	AFF4	OMIM:616368
HP:0000520	Proptosis	27125	AFF4	ORPHA:444077
HP:0000520	Proptosis	8314	BAP1	ORPHA:2495
HP:0000520	Proptosis	4771	NF2	ORPHA:2495
HP:0000520	Proptosis	6598	SMARCB1	ORPHA:2495
HP:0000520	Proptosis	5155	PDGFB	ORPHA:2495
HP:0000520	Proptosis	84231	TRAF7	ORPHA:2495
HP:0000520	Proptosis	6608	SMO	ORPHA:2495
HP:0000520	Proptosis	207	AKT1	ORPHA:2495
HP:0000520	Proptosis	207	AKT1	ORPHA:744
HP:0000520	Proptosis	5290	PIK3CA	ORPHA:2495
HP:0000520	Proptosis	7015	TERT	ORPHA:2495
HP:0000520	Proptosis	51684	SUFU	ORPHA:2495
HP:0000520	Proptosis	6605	SMARCE1	ORPHA:2495
HP:0000520	Proptosis	150468	CKAP2L	OMIM:272440
HP:0000520	Proptosis	1493	CTLA4	ORPHA:900
HP:0000520	Proptosis	26191	PTPN22	ORPHA:900
HP:0000520	Proptosis	3115	HLA-DPB1	ORPHA:900
HP:0000520	Proptosis	5657	PRTN3	ORPHA:900
HP:0000520	Proptosis	3113	HLA-DPA1	ORPHA:900
HP:0000520	Proptosis	11128	POLR3A	OMIM:264090
HP:0000520	Proptosis	157570	ESCO2	ORPHA:3103
HP:0000520	Proptosis	157570	ESCO2	OMIM:268300
HP:0000520	Proptosis	79796	ALG9	ORPHA:79328
HP:0000520	Proptosis	79796	ALG9	OMIM:263210
HP:0000520	Proptosis	54928	BPNT2	OMIM:614078
HP:0000520	Proptosis	3845	KRAS	ORPHA:3339
HP:0000520	Proptosis	3845	KRAS	OMIM:600268
HP:0000520	Proptosis	3845	KRAS	ORPHA:648
HP:0000520	Proptosis	2316	FLNA	ORPHA:2484
HP:0000520	Proptosis	2316	FLNA	OMIM:309350
HP:0000520	Proptosis	25973	PARS2	OMIM:618437
HP:0000520	Proptosis	3662	IRF4	ORPHA:3452
HP:0000520	Proptosis	114548	NLRP3	OMIM:607115
HP:0000520	Proptosis	114548	NLRP3	ORPHA:1451
HP:0000520	Proptosis	124583	CANT1	OMIM:251450
HP:0000520	Proptosis	124583	CANT1	ORPHA:1425
HP:0000520	Proptosis	56975	FAM20C	ORPHA:1832
HP:0000520	Proptosis	56975	FAM20C	OMIM:259775
HP:0000520	Proptosis	1482	NKX2-5	OMIM:187500
HP:0000520	Proptosis	1482	NKX2-5	ORPHA:3303
HP:0000520	Proptosis	6899	TBX1	OMIM:187500
HP:0000520	Proptosis	6899	TBX1	ORPHA:3303
HP:0000520	Proptosis	2626	GATA4	OMIM:187500
HP:0000520	Proptosis	2626	GATA4	ORPHA:3303
HP:0000520	Proptosis	23414	ZFPM2	OMIM:187500
HP:0000520	Proptosis	23414	ZFPM2	ORPHA:3303
HP:0000520	Proptosis	182	JAG1	OMIM:187500
HP:0000520	Proptosis	182	JAG1	ORPHA:3303
HP:0000520	Proptosis	2627	GATA6	OMIM:187500
HP:0000520	Proptosis	2627	GATA6	ORPHA:3303
HP:0000520	Proptosis	249	ALPL	OMIM:241510
HP:0000520	Proptosis	23483	TGDS	OMIM:616145
HP:0000520	Proptosis	1028	CDKN1C	OMIM:130650
HP:0000520	Proptosis	3481	IGF2	OMIM:130650
HP:0000520	Proptosis	3784	KCNQ1	OMIM:130650
HP:0000520	Proptosis	10984	KCNQ1OT1	OMIM:130650
HP:0000520	Proptosis	9652	SKIC3	OMIM:222470
HP:0000520	Proptosis	7994	KAT6A	OMIM:616268
HP:0000520	Proptosis	4088	SMAD3	OMIM:613795
HP:0000520	Proptosis	25836	NIPBL	OMIM:122470
HP:0000520	Proptosis	7048	TGFBR2	OMIM:610168
HP:0000520	Proptosis	57465	TBC1D24	ORPHA:352582
HP:0000520	Proptosis	4313	MMP2	OMIM:259600
HP:0000520	Proptosis	28962	OSTM1	OMIM:259720
HP:0000520	Proptosis	7546	ZIC2	OMIM:609637
HP:0000520	Proptosis	4615	MYD88	ORPHA:33226
HP:0000520	Proptosis	91252	SLC39A13	ORPHA:157965
HP:0000520	Proptosis	58497	PRUNE1	OMIM:617481
HP:0000520	Proptosis	5881	RAC3	OMIM:618577
HP:0000520	Proptosis	29968	PSAT1	OMIM:616038
HP:0000520	Proptosis	7046	TGFBR1	OMIM:609192
HP:0000520	Proptosis	6497	SKI	ORPHA:2462
HP:0000520	Proptosis	6497	SKI	OMIM:182212
HP:0000520	Proptosis	78987	CRELD1	OMIM:620771
HP:0000520	Proptosis	8260	NAA10	ORPHA:276432
HP:0000520	Proptosis	8260	NAA10	OMIM:300855
HP:0000520	Proptosis	7291	TWIST1	ORPHA:35099
HP:0000520	Proptosis	6938	TCF12	ORPHA:35099
HP:0000520	Proptosis	7545	ZIC1	ORPHA:35099
HP:0000520	Proptosis	4921	DDR2	OMIM:271665
HP:0000520	Proptosis	9488	PIGB	OMIM:618580
HP:0000520	Proptosis	8925	HERC1	OMIM:617011
HP:0000520	Proptosis	8925	HERC1	ORPHA:457359
HP:0000520	Proptosis	10785	WDR4	OMIM:618346
HP:0000520	Proptosis	56896	DPYSL5	OMIM:619435
HP:0000520	Proptosis	100151683	RNU4ATAC	OMIM:210710
HP:0000520	Proptosis	100151683	RNU4ATAC	ORPHA:2636
HP:0000520	Proptosis	2335	FN1	ORPHA:93315
HP:0000520	Proptosis	79903	NAA60	OMIM:620786
HP:0000520	Proptosis	253738	EBF3	ORPHA:96148
HP:0000520	Proptosis	90459	ERI1	OMIM:620663
HP:0000520	Proptosis	2702	GJA5	ORPHA:3303
HP:0000520	Proptosis	137814	NKX2-6	ORPHA:3303
HP:0000520	Proptosis	3791	KDR	ORPHA:3303
HP:0000520	Proptosis	2657	GDF1	ORPHA:3303
HP:0000520	Proptosis	140628	GATA5	ORPHA:3303
HP:0000520	Proptosis	2324	FLT4	ORPHA:3303
HP:0000520	Proptosis	10370	CITED2	ORPHA:3303
HP:0000520	Proptosis	55315	SLC29A3	OMIM:602782
HP:0000520	Proptosis	55315	SLC29A3	ORPHA:168569
HP:0000520	Proptosis	10733	PLK4	OMIM:616171
HP:0000520	Proptosis	5515	PPP2CA	OMIM:618354
HP:0000520	Proptosis	221496	LEMD2	OMIM:619322
HP:0000520	Proptosis	30008	EFEMP2	OMIM:614437
HP:0000520	Proptosis	8312	AXIN1	OMIM:620558
HP:0000520	Proptosis	54820	NDE1	OMIM:605013
HP:0000520	Proptosis	10269	ZMPSTE24	ORPHA:90154
HP:0000520	Proptosis	10269	ZMPSTE24	OMIM:608612
HP:0000520	Proptosis	4784	NFIX	OMIM:602535
HP:0000520	Proptosis	4784	NFIX	ORPHA:561
HP:0000520	Proptosis	10735	STAG2	OMIM:301022
HP:0000520	Proptosis	4052	LTBP1	OMIM:619451
HP:0000520	Proptosis	3643	INSR	OMIM:246200
HP:0000520	Proptosis	8120	AP3B2	OMIM:617276
HP:0000520	Proptosis	9401	RECQL4	ORPHA:1225
HP:0000520	Proptosis	64131	XYLT1	OMIM:615777
HP:0000520	Proptosis	64131	XYLT1	ORPHA:370930
HP:0000520	Proptosis	64131	XYLT1	ORPHA:1425
HP:0000520	Proptosis	6469	SHH	OMIM:142945
HP:0000520	Proptosis	1781	DYNC1I2	OMIM:618492
HP:0000520	Proptosis	633	BGN	OMIM:300989
HP:0000520	Proptosis	5745	PTH1R	ORPHA:50945
HP:0000520	Proptosis	5745	PTH1R	OMIM:156400
HP:0000520	Proptosis	4854	NOTCH3	ORPHA:2789
HP:0000520	Proptosis	9419	CRIPT	OMIM:615789
HP:0000520	Proptosis	6638	SNRPN	ORPHA:177907
HP:0000520	Proptosis	4763	NF1	ORPHA:97685
HP:0000520	Proptosis	26040	SETBP1	ORPHA:798
HP:0000520	Proptosis	6611	SMS	ORPHA:3063
HP:0000520	Proptosis	84265	POLR3GL	OMIM:619234
HP:0000520	Proptosis	10526	IPO8	OMIM:619472
HP:0000520	Proptosis	6711	SPTBN1	OMIM:619475
HP:0000520	Proptosis	2033	EP300	OMIM:180849
HP:0000520	Proptosis	1387	CREBBP	OMIM:180849
HP:0000520	Proptosis	29957	SLC25A24	OMIM:612289
HP:0000520	Proptosis	80232	WDR26	OMIM:617616
HP:0000520	Proptosis	91461	PKDCC	OMIM:618821
HP:0000520	Proptosis	2254	FGF9	OMIM:612961
HP:0000520	Proptosis	50937	CDON	OMIM:614226
HP:0000520	Proptosis	25914	RTTN	ORPHA:468631
HP:0000520	Proptosis	8936	WASF1	OMIM:618707
HP:0000520	Proptosis	9935	MAFB	ORPHA:2774
HP:0000520	Proptosis	9935	MAFB	OMIM:166300
HP:0000520	Proptosis	25839	COG4	OMIM:618150
HP:0000520	Proptosis	25839	COG4	ORPHA:85172
HP:0000520	Proptosis	3636	INPPL1	OMIM:258480
HP:0000520	Proptosis	6872	TAF1	OMIM:300966
HP:0000520	Proptosis	285590	SH3PXD2B	OMIM:249420
HP:0000520	Proptosis	374879	ZNF699	OMIM:619488
HP:0000520	Proptosis	10651	MTX2	OMIM:619127
HP:0000520	Proptosis	8318	CDC45	OMIM:617063
HP:0000520	Proptosis	55755	CDK5RAP2	OMIM:604804
HP:0000520	Proptosis	83737	ITCH	OMIM:613385
HP:0000520	Proptosis	83737	ITCH	ORPHA:228426
HP:0000520	Proptosis	1277	COL1A1	ORPHA:1310
HP:0000520	Proptosis	23516	SLC39A14	OMIM:144755
HP:0000520	Proptosis	6329	SCN4A	OMIM:620351
HP:0000520	Proptosis	6329	SCN4A	OMIM:620369
HP:0000520	Proptosis	126792	B3GALT6	OMIM:271640
HP:0000520	Proptosis	126792	B3GALT6	ORPHA:536467
HP:0000520	Proptosis	126792	B3GALT6	OMIM:615349
HP:0000520	Proptosis	55252	ASXL2	OMIM:617190
HP:0000520	Proptosis	259266	ASPM	OMIM:608716
HP:0000520	Proptosis	5331	PLCB3	OMIM:618961
HP:0000520	Proptosis	89970	RSPRY1	ORPHA:457395
HP:0000520	Proptosis	8815	BANF1	OMIM:614008
HP:0000520	Proptosis	51594	NBAS	OMIM:614800
HP:0000520	Proptosis	63916	ELMO2	OMIM:606893
HP:0000520	Proptosis	22800	RRAS2	ORPHA:648
HP:0000520	Proptosis	867	CBL	ORPHA:648
HP:0000520	Proptosis	8216	LZTR1	ORPHA:648
HP:0000520	Proptosis	6016	RIT1	ORPHA:648
HP:0000520	Proptosis	6237	RRAS	ORPHA:648
HP:0000520	Proptosis	5894	RAF1	ORPHA:648
HP:0000520	Proptosis	22808	MRAS	ORPHA:648
HP:0000520	Proptosis	200734	SPRED2	ORPHA:648
HP:0000520	Proptosis	4893	NRAS	ORPHA:648
HP:0000520	Proptosis	6654	SOS1	ORPHA:648
HP:0000520	Proptosis	6655	SOS2	ORPHA:648
HP:0000520	Proptosis	5781	PTPN11	ORPHA:648
HP:0000520	Proptosis	5922	RASA2	ORPHA:648
HP:0000520	Proptosis	5479	PPIB	OMIM:259440
HP:0000520	Proptosis	6496	SIX3	OMIM:157170
HP:0000520	Proptosis	26123	TCTN3	ORPHA:2753
HP:0000520	Proptosis	55790	CSGALNACT1	ORPHA:1425
HP:0000520	Proptosis	1513	CTSK	ORPHA:763
HP:0000520	Proptosis	9469	CHST3	OMIM:245600
HP:0000520	Proptosis	26229	B3GAT3	OMIM:245600
HP:0000520	Proptosis	7043	TGFB3	OMIM:615582
HP:0000520	Proptosis	4654	MYOD1	OMIM:618975
HP:0000520	Proptosis	27445	PCLO	OMIM:608027
HP:0000520	Proptosis	5696	PSMB8	OMIM:256040
HP:0000520	Proptosis	4613	MYCN	ORPHA:635
HP:0000520	Proptosis	238	ALK	ORPHA:635
HP:0000520	Proptosis	389421	LIN28B	ORPHA:635
HP:0000520	Proptosis	4004	LMO1	ORPHA:635
HP:0000520	Proptosis	57531	HACE1	ORPHA:635
HP:0000520	Proptosis	8929	PHOX2B	ORPHA:635
HP:0000520	Proptosis	283450	HECTD4	OMIM:620250
HP:0000520	Proptosis	3190	HNRNPK	OMIM:616580
HP:0000520	Proptosis	3190	HNRNPK	ORPHA:352665
HP:0000520	Proptosis	3190	HNRNPK	ORPHA:453504
HP:0000520	Proptosis	57061	HYMAI	ORPHA:96191
HP:0000520	Proptosis	5325	PLAGL1	ORPHA:96191
HP:0000520	Proptosis	84168	ANTXR1	OMIM:230740
HP:0000520	Proptosis	5727	PTCH1	OMIM:610828
HP:0000520	Proptosis	5422	POLA1	OMIM:301030
HP:0000520	Proptosis	4094	MAF	ORPHA:1272
HP:0000520	Proptosis	8985	PLOD3	OMIM:612394
HP:0000520	Proptosis	23729	SHPK	ORPHA:440713
HP:0000520	Proptosis	4286	MITF	OMIM:617306
HP:0000520	Proptosis	25942	SIN3A	OMIM:613406
HP:0000520	Proptosis	51163	DBR1	OMIM:620510
HP:0000520	Proptosis	871	SERPINH1	OMIM:613848
HP:0000520	Proptosis	81794	ADAMTS10	OMIM:277600
HP:0033850	Coldness	7080	NKX2-1	ORPHA:95713
HP:0033850	Coldness	7849	PAX8	ORPHA:95713
HP:0033850	Coldness	1482	NKX2-5	ORPHA:95713
HP:0033850	Coldness	2304	FOXE1	ORPHA:95713
HP:0033850	Coldness	7253	TSHR	ORPHA:95713
HP:0033850	Coldness	5172	SLC26A4	ORPHA:95713
HP:0033850	Coldness	6792	CDKL5	ORPHA:505652
HP:0033850	Coldness	4204	MECP2	ORPHA:778
HP:0033851	Oculomotor synkinesis	57007	ACKR3	OMIM:619215
HP:0025300	Malar rash	875	CBS	ORPHA:394
HP:0025300	Malar rash	7156	TOP3A	OMIM:618097
HP:0025300	Malar rash	8558	CDK10	OMIM:617694
HP:0025300	Malar rash	2212	FCGR2A	OMIM:152700
HP:0025300	Malar rash	2213	FCGR2B	OMIM:152700
HP:0025300	Malar rash	2213	FCGR2B	ORPHA:536
HP:0025300	Malar rash	26191	PTPN22	OMIM:152700
HP:0025300	Malar rash	26191	PTPN22	ORPHA:536
HP:0025300	Malar rash	11277	TREX1	OMIM:152700
HP:0025300	Malar rash	11277	TREX1	ORPHA:536
HP:0025300	Malar rash	1493	CTLA4	OMIM:152700
HP:0025300	Malar rash	1493	CTLA4	ORPHA:536
HP:0025300	Malar rash	1773	DNASE1	OMIM:152700
HP:0025300	Malar rash	1773	DNASE1	ORPHA:536
HP:0025300	Malar rash	641	BLM	OMIM:210900
HP:0025300	Malar rash	843	CASP10	OMIM:603909
HP:0025300	Malar rash	340061	STING1	OMIM:615934
HP:0025300	Malar rash	6775	STAT4	ORPHA:93552
HP:0025300	Malar rash	6775	STAT4	ORPHA:536
HP:0025300	Malar rash	6696	SPP1	ORPHA:93552
HP:0025300	Malar rash	6696	SPP1	ORPHA:536
HP:0025300	Malar rash	6303	SAT1	ORPHA:93552
HP:0025300	Malar rash	3654	IRAK1	ORPHA:93552
HP:0025300	Malar rash	3654	IRAK1	ORPHA:536
HP:0025300	Malar rash	713	C1QB	OMIM:620321
HP:0025300	Malar rash	2215	FCGR3B	ORPHA:536
HP:0025300	Malar rash	3684	ITGAM	ORPHA:536
HP:0025300	Malar rash	3586	IL10	ORPHA:536
HP:0025300	Malar rash	221895	JAZF1	ORPHA:536
HP:0025300	Malar rash	7292	TNFSF4	ORPHA:536
HP:0025300	Malar rash	640	BLK	ORPHA:536
HP:0025300	Malar rash	720	C4A	ORPHA:536
HP:0025300	Malar rash	55024	BANK1	ORPHA:536
HP:0025300	Malar rash	3500	IGHG1	ORPHA:536
HP:0025300	Malar rash	1380	CR2	ORPHA:536
HP:0025300	Malar rash	5133	PDCD1	ORPHA:536
HP:0025300	Malar rash	2113	ETS1	ORPHA:536
HP:0025300	Malar rash	10318	TNIP1	ORPHA:536
HP:0025300	Malar rash	7332	UBE2L3	ORPHA:536
HP:0025300	Malar rash	79932	KIAA0319L	ORPHA:536
HP:0025300	Malar rash	4204	MECP2	ORPHA:536
HP:0025300	Malar rash	3663	IRF5	ORPHA:536
HP:0025300	Malar rash	3123	HLA-DRB1	ORPHA:536
HP:0025300	Malar rash	721	C4B	ORPHA:536
HP:0025300	Malar rash	51284	TLR7	ORPHA:536
HP:0025300	Malar rash	51284	TLR7	OMIM:301080
HP:0025300	Malar rash	54899	PXK	ORPHA:536
HP:0025300	Malar rash	7128	TNFAIP3	ORPHA:536
HP:0025303	Episodic	5741	PTH	OMIM:146200
HP:0025309	Abnormal pupil shape	55605	KIF21A	ORPHA:45358
HP:0025309	Abnormal pupil shape	347733	TUBB2B	ORPHA:45358
HP:0025309	Abnormal pupil shape	7846	TUBA1A	ORPHA:45358
HP:0025309	Abnormal pupil shape	401	PHOX2A	ORPHA:45358
HP:0025309	Abnormal pupil shape	10381	TUBB3	ORPHA:45358
HP:0025309	Abnormal pupil shape	84570	COL25A1	ORPHA:45358
HP:0033859	Abnormal peritubular capillary morphology	57728	WDR19	OMIM:614377
HP:0030601	Abnormal posterior segment imaging	3419	IDH3A	OMIM:619007
HP:0030601	Abnormal posterior segment imaging	6247	RS1	ORPHA:792
HP:0030601	Abnormal posterior segment imaging	57670	KIAA1549	OMIM:618613
HP:0030601	Abnormal posterior segment imaging	9371	KIF3B	OMIM:618955
HP:0030601	Abnormal posterior segment imaging	10283	CWC27	OMIM:250410
HP:0030601	Abnormal posterior segment imaging	83723	TLCD3B	OMIM:619531
HP:0030601	Abnormal posterior segment imaging	344658	SAMD7	OMIM:620762
HP:0030601	Abnormal posterior segment imaging	7078	TIMP3	ORPHA:59181
HP:0030601	Abnormal posterior segment imaging	1121	CHM	ORPHA:180
HP:0030601	Abnormal posterior segment imaging	94137	RP1L1	OMIM:613587
HP:0030601	Abnormal posterior segment imaging	5373	PMM2	ORPHA:79318
HP:0030601	Abnormal posterior segment imaging	3105	HLA-A	ORPHA:179
HP:0030601	Abnormal posterior segment imaging	23155	CLCC1	OMIM:609913
HP:0030601	Abnormal posterior segment imaging	6533	SLC6A6	OMIM:145350
HP:0030601	Abnormal posterior segment imaging	51095	TRNT1	OMIM:616959
HP:0030601	Abnormal posterior segment imaging	92840	REEP6	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	6094	ROM1	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	6017	RLBP1	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	7401	CLRN1	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	24	ABCA4	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	130557	ZNF513	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	92211	CDHR1	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	23568	ARL2BP	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	6121	RPE65	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	54806	AHI1	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	6101	RP1	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	4751	NEK2	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	346007	EYS	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	8100	IFT88	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	23020	SNRNP200	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	762	CA4	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	138050	HGSNAT	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	196	AHR	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	3614	IMPDH1	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	123016	TTC8	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	1406	CRX	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	5148	PDE6G	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	583	BBS2	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	4117	MAK	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	25794	FSCN2	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	375298	CERKL	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	3420	IDH3B	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	7275	TUB	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	24148	PRPF6	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	23418	CRB1	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	10461	MERTK	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	57709	SLC7A14	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	768206	PRCD	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	7399	USH2A	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	23370	ARHGEF18	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	5949	RBP3	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	6010	RHO	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	6100	RP9	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	10002	NR2E3	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	9227	LRAT	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	84140	FAM161A	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	55812	SPATA7	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	79797	ZNF408	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	403	ARL3	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	5145	PDE6A	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	10210	TOPORS	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	9128	PRPF4	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	145226	RDH12	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	50939	IMPG2	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	57545	CC2D2A	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	8481	OFD1	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	49855	SCAPER	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	9742	IFT140	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	2979	GUCA1B	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	1259	CNGA1	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	1258	CNGB1	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	60509	AGBL5	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	388939	PCARE	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	7439	BEST1	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	9785	DHX38	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	7287	TULP1	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	5995	RGR	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	9129	PRPF3	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	3617	IMPG1	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	5158	PDE6B	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	6102	RP2	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	64218	SEMA4A	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	4901	NRL	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	6295	SAG	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	79947	DHDDS	ORPHA:791
HP:0030601	Abnormal posterior segment imaging	283652	SLC24A5	ORPHA:370097
HP:0030601	Abnormal posterior segment imaging	7123	CLEC3B	OMIM:619977
HP:0030601	Abnormal posterior segment imaging	2652	OPN1MW	ORPHA:16
HP:0030601	Abnormal posterior segment imaging	5956	OPN1LW	ORPHA:16
HP:0030601	Abnormal posterior segment imaging	22926	ATF6	ORPHA:49382
HP:0030601	Abnormal posterior segment imaging	5146	PDE6C	ORPHA:49382
HP:0030601	Abnormal posterior segment imaging	5149	PDE6H	ORPHA:49382
HP:0030601	Abnormal posterior segment imaging	2780	GNAT2	ORPHA:49382
HP:0030601	Abnormal posterior segment imaging	1261	CNGA3	ORPHA:49382
HP:0030601	Abnormal posterior segment imaging	54714	CNGB3	ORPHA:49382
HP:0030601	Abnormal posterior segment imaging	5080	PAX6	ORPHA:250923
HP:0030601	Abnormal posterior segment imaging	2296	FOXC1	ORPHA:250923
HP:0030601	Abnormal posterior segment imaging	54765	TRIM44	ORPHA:250923
HP:0030601	Abnormal posterior segment imaging	85465	SELENOI	ORPHA:506353
HP:0030601	Abnormal posterior segment imaging	2202	EFEMP1	ORPHA:75376
HP:0030601	Abnormal posterior segment imaging	3075	CFH	ORPHA:75376
HP:0030601	Abnormal posterior segment imaging	3426	CFI	ORPHA:75376
HP:0030601	Abnormal posterior segment imaging	8842	PROM1	OMIM:608051
HP:0030601	Abnormal posterior segment imaging	26121	PRPF31	OMIM:600138
HP:0030601	Abnormal posterior segment imaging	256471	MFSD8	OMIM:616170
HP:0030601	Abnormal posterior segment imaging	10594	PRPF8	OMIM:600059
HP:0030601	Abnormal posterior segment imaging	84839	RAX2	OMIM:620102
HP:0030601	Abnormal posterior segment imaging	26160	IFT172	OMIM:616394
HP:0030601	Abnormal posterior segment imaging	55975	KLHL7	OMIM:612943
HP:0030601	Abnormal posterior segment imaging	326	AIRE	OMIM:240300
HP:0030601	Abnormal posterior segment imaging	23093	TTLL5	OMIM:615860
HP:0030601	Abnormal posterior segment imaging	5961	PRPH2	ORPHA:75377
HP:0030601	Abnormal posterior segment imaging	3000	GUCY2D	ORPHA:75377
HP:0030601	Abnormal posterior segment imaging	2978	GUCA1A	ORPHA:75377
HP:0030601	Abnormal posterior segment imaging	157657	CFAP418	OMIM:617406
HP:0030601	Abnormal posterior segment imaging	84100	ARL6	OMIM:209900
HP:0030601	Abnormal posterior segment imaging	79140	CCDC28B	OMIM:209900
HP:0030601	Abnormal posterior segment imaging	582	BBS1	OMIM:209900
HP:0030601	Abnormal posterior segment imaging	55624	POMGNT1	OMIM:617123
HP:0030601	Abnormal posterior segment imaging	22901	ARSG	OMIM:618144
HP:0030601	Abnormal posterior segment imaging	6103	RPGR	OMIM:304020
HP:0030601	Abnormal posterior segment imaging	55857	KIZ	OMIM:615780
HP:0030609	Photoreceptor layer loss on macular OCT	5373	PMM2	ORPHA:79318
HP:0030609	Photoreceptor layer loss on macular OCT	3105	HLA-A	ORPHA:179
HP:0030609	Photoreceptor layer loss on macular OCT	23155	CLCC1	OMIM:609913
HP:0030609	Photoreceptor layer loss on macular OCT	6533	SLC6A6	OMIM:145350
HP:0030609	Photoreceptor layer loss on macular OCT	51095	TRNT1	OMIM:616959
HP:0030604	Abnormal fundus fluorescein angiography	94137	RP1L1	OMIM:613587
HP:0030603	Abnormal optical coherence tomography	5373	PMM2	ORPHA:79318
HP:0030603	Abnormal optical coherence tomography	3105	HLA-A	ORPHA:179
HP:0030603	Abnormal optical coherence tomography	23155	CLCC1	OMIM:609913
HP:0030603	Abnormal optical coherence tomography	6533	SLC6A6	OMIM:145350
HP:0030603	Abnormal optical coherence tomography	51095	TRNT1	OMIM:616959
HP:0030603	Abnormal optical coherence tomography	92840	REEP6	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	6094	ROM1	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	6017	RLBP1	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	7401	CLRN1	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	24	ABCA4	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	130557	ZNF513	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	582	BBS1	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	92211	CDHR1	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	23568	ARL2BP	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	6121	RPE65	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	54806	AHI1	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	6101	RP1	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	3419	IDH3A	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	4751	NEK2	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	346007	EYS	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	8100	IFT88	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	23020	SNRNP200	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	762	CA4	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	138050	HGSNAT	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	196	AHR	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	3614	IMPDH1	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	123016	TTC8	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	6103	RPGR	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	1406	CRX	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	5148	PDE6G	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	26160	IFT172	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	26121	PRPF31	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	583	BBS2	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	4117	MAK	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	25794	FSCN2	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	375298	CERKL	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	3420	IDH3B	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	57670	KIAA1549	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	7275	TUB	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	24148	PRPF6	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	23418	CRB1	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	10461	MERTK	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	57709	SLC7A14	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	768206	PRCD	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	7399	USH2A	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	23370	ARHGEF18	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	5949	RBP3	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	6010	RHO	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	6100	RP9	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	10002	NR2E3	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	9227	LRAT	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	84140	FAM161A	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	55812	SPATA7	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	55624	POMGNT1	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	79797	ZNF408	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	403	ARL3	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	5145	PDE6A	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	10210	TOPORS	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	8842	PROM1	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	9128	PRPF4	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	145226	RDH12	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	50939	IMPG2	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	57545	CC2D2A	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	8481	OFD1	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	49855	SCAPER	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	9742	IFT140	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	2979	GUCA1B	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	1259	CNGA1	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	1258	CNGB1	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	60509	AGBL5	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	5961	PRPH2	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	388939	PCARE	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	7439	BEST1	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	9785	DHX38	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	7287	TULP1	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	5995	RGR	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	9129	PRPF3	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	55975	KLHL7	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	3617	IMPG1	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	94137	RP1L1	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	5158	PDE6B	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	6102	RP2	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	55857	KIZ	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	64218	SEMA4A	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	4901	NRL	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	157657	CFAP418	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	10594	PRPF8	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	84100	ARL6	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	6295	SAG	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	79947	DHDDS	ORPHA:791
HP:0030603	Abnormal optical coherence tomography	283652	SLC24A5	ORPHA:370097
HP:0030603	Abnormal optical coherence tomography	3000	GUCY2D	ORPHA:75377
HP:0030603	Abnormal optical coherence tomography	2978	GUCA1A	ORPHA:75377
HP:0030603	Abnormal optical coherence tomography	7123	CLEC3B	OMIM:619977
HP:0030603	Abnormal optical coherence tomography	2652	OPN1MW	ORPHA:16
HP:0030603	Abnormal optical coherence tomography	5956	OPN1LW	ORPHA:16
HP:0030603	Abnormal optical coherence tomography	22926	ATF6	ORPHA:49382
HP:0030603	Abnormal optical coherence tomography	5146	PDE6C	ORPHA:49382
HP:0030603	Abnormal optical coherence tomography	5149	PDE6H	ORPHA:49382
HP:0030603	Abnormal optical coherence tomography	2780	GNAT2	ORPHA:49382
HP:0030603	Abnormal optical coherence tomography	1261	CNGA3	ORPHA:49382
HP:0030603	Abnormal optical coherence tomography	54714	CNGB3	ORPHA:49382
HP:0030603	Abnormal optical coherence tomography	5080	PAX6	ORPHA:250923
HP:0030603	Abnormal optical coherence tomography	2296	FOXC1	ORPHA:250923
HP:0030603	Abnormal optical coherence tomography	54765	TRIM44	ORPHA:250923
HP:0030603	Abnormal optical coherence tomography	85465	SELENOI	ORPHA:506353
HP:0030603	Abnormal optical coherence tomography	7078	TIMP3	ORPHA:59181
HP:0030602	Abnormal fundus autofluorescence imaging	3419	IDH3A	OMIM:619007
HP:0030602	Abnormal fundus autofluorescence imaging	6247	RS1	ORPHA:792
HP:0030602	Abnormal fundus autofluorescence imaging	57670	KIAA1549	OMIM:618613
HP:0030602	Abnormal fundus autofluorescence imaging	9371	KIF3B	OMIM:618955
HP:0030602	Abnormal fundus autofluorescence imaging	10283	CWC27	OMIM:250410
HP:0030602	Abnormal fundus autofluorescence imaging	83723	TLCD3B	OMIM:619531
HP:0030602	Abnormal fundus autofluorescence imaging	344658	SAMD7	OMIM:620762
HP:0030602	Abnormal fundus autofluorescence imaging	7078	TIMP3	ORPHA:59181
HP:0030602	Abnormal fundus autofluorescence imaging	1121	CHM	ORPHA:180
HP:0030602	Abnormal fundus autofluorescence imaging	2202	EFEMP1	ORPHA:75376
HP:0030602	Abnormal fundus autofluorescence imaging	3075	CFH	ORPHA:75376
HP:0030602	Abnormal fundus autofluorescence imaging	3426	CFI	ORPHA:75376
HP:0030602	Abnormal fundus autofluorescence imaging	8842	PROM1	OMIM:608051
HP:0030602	Abnormal fundus autofluorescence imaging	26121	PRPF31	OMIM:600138
HP:0030602	Abnormal fundus autofluorescence imaging	256471	MFSD8	OMIM:616170
HP:0030602	Abnormal fundus autofluorescence imaging	10594	PRPF8	OMIM:600059
HP:0030602	Abnormal fundus autofluorescence imaging	84839	RAX2	OMIM:620102
HP:0030602	Abnormal fundus autofluorescence imaging	26160	IFT172	OMIM:616394
HP:0030602	Abnormal fundus autofluorescence imaging	55975	KLHL7	OMIM:612943
HP:0030602	Abnormal fundus autofluorescence imaging	326	AIRE	OMIM:240300
HP:0030602	Abnormal fundus autofluorescence imaging	23093	TTLL5	OMIM:615860
HP:0030602	Abnormal fundus autofluorescence imaging	5961	PRPH2	ORPHA:75377
HP:0030602	Abnormal fundus autofluorescence imaging	3000	GUCY2D	ORPHA:75377
HP:0030602	Abnormal fundus autofluorescence imaging	2978	GUCA1A	ORPHA:75377
HP:0030602	Abnormal fundus autofluorescence imaging	157657	CFAP418	OMIM:617406
HP:0030602	Abnormal fundus autofluorescence imaging	84100	ARL6	OMIM:209900
HP:0030602	Abnormal fundus autofluorescence imaging	79140	CCDC28B	OMIM:209900
HP:0030602	Abnormal fundus autofluorescence imaging	582	BBS1	OMIM:209900
HP:0030602	Abnormal fundus autofluorescence imaging	55624	POMGNT1	OMIM:617123
HP:0030602	Abnormal fundus autofluorescence imaging	22901	ARSG	OMIM:618144
HP:0030602	Abnormal fundus autofluorescence imaging	6103	RPGR	OMIM:304020
HP:0030602	Abnormal fundus autofluorescence imaging	55857	KIZ	OMIM:615780
HP:0007720	Flat cornea	11081	KERA	OMIM:217300
HP:0007720	Flat cornea	4140	MARK3	OMIM:618283
HP:0007720	Flat cornea	6804	STX1A	ORPHA:904
HP:0007720	Flat cornea	7461	CLIP2	ORPHA:904
HP:0007720	Flat cornea	84277	DNAJC30	ORPHA:904
HP:0007720	Flat cornea	8468	FKBP6	ORPHA:904
HP:0007720	Flat cornea	5982	RFC2	ORPHA:904
HP:0007720	Flat cornea	2969	GTF2I	ORPHA:904
HP:0007720	Flat cornea	3984	LIMK1	ORPHA:904
HP:0007720	Flat cornea	9569	GTF2IRD1	ORPHA:904
HP:0007720	Flat cornea	155382	VPS37D	ORPHA:904
HP:0007720	Flat cornea	155368	METTL27	ORPHA:904
HP:0007720	Flat cornea	114049	BUD23	ORPHA:904
HP:0007720	Flat cornea	7458	EIF4H	ORPHA:904
HP:0007720	Flat cornea	84163	GTF2IRD2	ORPHA:904
HP:0007720	Flat cornea	26608	TBL2	ORPHA:904
HP:0007720	Flat cornea	653361	NCF1	ORPHA:904
HP:0007720	Flat cornea	135886	TMEM270	ORPHA:904
HP:0007720	Flat cornea	9031	BAZ1B	ORPHA:904
HP:0007720	Flat cornea	2006	ELN	ORPHA:904
HP:0007720	Flat cornea	7042	TGFB2	OMIM:614816
HP:0007720	Flat cornea	11107	PRDM5	OMIM:614170
HP:0007720	Flat cornea	57096	RPGRIP1	OMIM:613826
HP:0033864	Abnormal medullary peritubular capillary morphology	57728	WDR19	OMIM:614377
HP:0033867	Multilamellation of medullary peritubular capillary basement membranes	57728	WDR19	OMIM:614377
HP:0025312	Esophoria	6899	TBX1	OMIM:188400
HP:0025312	Esophoria	51102	MECR	OMIM:617282
HP:0025312	Esophoria	51102	MECR	ORPHA:508093
HP:0025312	Esophoria	6334	SCN8A	OMIM:614306
HP:0025312	Esophoria	3211	HOXB1	OMIM:614744
HP:0025312	Esophoria	57498	KIDINS220	ORPHA:521390
HP:0025313	Exophoria	2703	GJA8	OMIM:612474
HP:0025313	Exophoria	2702	GJA5	OMIM:612474
HP:0025313	Exophoria	27125	AFF4	ORPHA:444077
HP:0025313	Exophoria	57531	HACE1	ORPHA:464282
HP:0025313	Exophoria	60684	TRAPPC11	ORPHA:369840
HP:0025313	Exophoria	6050	RNH1	OMIM:620461
HP:0025318	Ovarian carcinoma	672	BRCA1	ORPHA:1333
HP:0025318	Ovarian carcinoma	672	BRCA1	OMIM:617883
HP:0025318	Ovarian carcinoma	285282	RABL3	ORPHA:1333
HP:0025318	Ovarian carcinoma	7157	TP53	ORPHA:1333
HP:0025318	Ovarian carcinoma	675	BRCA2	ORPHA:1333
HP:0025318	Ovarian carcinoma	3845	KRAS	ORPHA:1333
HP:0025318	Ovarian carcinoma	1029	CDKN2A	ORPHA:1333
HP:0025318	Ovarian carcinoma	79728	PALB2	ORPHA:1333
HP:0025318	Ovarian carcinoma	4089	SMAD4	ORPHA:1333
HP:0025318	Ovarian carcinoma	23022	PALLD	ORPHA:1333
HP:0025318	Ovarian carcinoma	5889	RAD51C	OMIM:613399
HP:0025318	Ovarian carcinoma	5728	PTEN	OMIM:158350
HP:0025318	Ovarian carcinoma	5573	PRKAR1A	ORPHA:1359
HP:0025318	Ovarian carcinoma	50940	PDE11A	ORPHA:1359
HP:0025318	Ovarian carcinoma	5727	PTCH1	OMIM:109400
HP:0030612	Abnormal retinal morphology on macular OCT	5373	PMM2	ORPHA:79318
HP:0030612	Abnormal retinal morphology on macular OCT	3105	HLA-A	ORPHA:179
HP:0030612	Abnormal retinal morphology on macular OCT	23155	CLCC1	OMIM:609913
HP:0030612	Abnormal retinal morphology on macular OCT	6533	SLC6A6	OMIM:145350
HP:0030612	Abnormal retinal morphology on macular OCT	51095	TRNT1	OMIM:616959
HP:0030612	Abnormal retinal morphology on macular OCT	92840	REEP6	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	6094	ROM1	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	6017	RLBP1	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	7401	CLRN1	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	24	ABCA4	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	130557	ZNF513	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	582	BBS1	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	92211	CDHR1	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	23568	ARL2BP	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	6121	RPE65	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	54806	AHI1	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	6101	RP1	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	3419	IDH3A	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	4751	NEK2	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	346007	EYS	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	8100	IFT88	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	23020	SNRNP200	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	762	CA4	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	138050	HGSNAT	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	196	AHR	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	3614	IMPDH1	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	123016	TTC8	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	6103	RPGR	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	1406	CRX	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	5148	PDE6G	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	26160	IFT172	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	26121	PRPF31	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	583	BBS2	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	4117	MAK	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	25794	FSCN2	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	375298	CERKL	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	3420	IDH3B	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	57670	KIAA1549	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	7275	TUB	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	24148	PRPF6	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	23418	CRB1	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	10461	MERTK	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	57709	SLC7A14	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	768206	PRCD	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	7399	USH2A	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	23370	ARHGEF18	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	5949	RBP3	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	6010	RHO	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	6100	RP9	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	10002	NR2E3	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	9227	LRAT	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	84140	FAM161A	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	55812	SPATA7	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	55624	POMGNT1	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	79797	ZNF408	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	403	ARL3	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	5145	PDE6A	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	10210	TOPORS	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	8842	PROM1	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	9128	PRPF4	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	145226	RDH12	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	50939	IMPG2	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	57545	CC2D2A	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	8481	OFD1	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	49855	SCAPER	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	9742	IFT140	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	2979	GUCA1B	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	1259	CNGA1	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	1258	CNGB1	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	60509	AGBL5	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	5961	PRPH2	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	388939	PCARE	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	7439	BEST1	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	9785	DHX38	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	7287	TULP1	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	5995	RGR	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	9129	PRPF3	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	55975	KLHL7	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	3617	IMPG1	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	94137	RP1L1	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	5158	PDE6B	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	6102	RP2	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	55857	KIZ	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	64218	SEMA4A	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	4901	NRL	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	157657	CFAP418	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	10594	PRPF8	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	84100	ARL6	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	6295	SAG	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	79947	DHDDS	ORPHA:791
HP:0030612	Abnormal retinal morphology on macular OCT	283652	SLC24A5	ORPHA:370097
HP:0030612	Abnormal retinal morphology on macular OCT	3000	GUCY2D	ORPHA:75377
HP:0030612	Abnormal retinal morphology on macular OCT	2978	GUCA1A	ORPHA:75377
HP:0030612	Abnormal retinal morphology on macular OCT	7123	CLEC3B	OMIM:619977
HP:0030612	Abnormal retinal morphology on macular OCT	2652	OPN1MW	ORPHA:16
HP:0030612	Abnormal retinal morphology on macular OCT	5956	OPN1LW	ORPHA:16
HP:0030612	Abnormal retinal morphology on macular OCT	22926	ATF6	ORPHA:49382
HP:0030612	Abnormal retinal morphology on macular OCT	5146	PDE6C	ORPHA:49382
HP:0030612	Abnormal retinal morphology on macular OCT	5149	PDE6H	ORPHA:49382
HP:0030612	Abnormal retinal morphology on macular OCT	2780	GNAT2	ORPHA:49382
HP:0030612	Abnormal retinal morphology on macular OCT	1261	CNGA3	ORPHA:49382
HP:0030612	Abnormal retinal morphology on macular OCT	54714	CNGB3	ORPHA:49382
HP:0030612	Abnormal retinal morphology on macular OCT	5080	PAX6	ORPHA:250923
HP:0030612	Abnormal retinal morphology on macular OCT	2296	FOXC1	ORPHA:250923
HP:0030612	Abnormal retinal morphology on macular OCT	54765	TRIM44	ORPHA:250923
HP:0030612	Abnormal retinal morphology on macular OCT	85465	SELENOI	ORPHA:506353
HP:0030612	Abnormal retinal morphology on macular OCT	7078	TIMP3	ORPHA:59181
HP:0030610	Photoreceptor outer segment loss on macular OCT	92840	REEP6	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	6094	ROM1	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	6017	RLBP1	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	7401	CLRN1	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	24	ABCA4	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	130557	ZNF513	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	582	BBS1	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	92211	CDHR1	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	23568	ARL2BP	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	6121	RPE65	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	54806	AHI1	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	6101	RP1	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	3419	IDH3A	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	4751	NEK2	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	346007	EYS	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	8100	IFT88	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	23020	SNRNP200	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	762	CA4	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	138050	HGSNAT	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	196	AHR	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	3614	IMPDH1	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	123016	TTC8	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	6103	RPGR	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	1406	CRX	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	5148	PDE6G	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	26160	IFT172	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	26121	PRPF31	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	583	BBS2	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	4117	MAK	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	25794	FSCN2	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	375298	CERKL	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	3420	IDH3B	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	57670	KIAA1549	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	7275	TUB	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	24148	PRPF6	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	23418	CRB1	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	10461	MERTK	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	57709	SLC7A14	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	768206	PRCD	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	7399	USH2A	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	23370	ARHGEF18	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	5949	RBP3	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	6010	RHO	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	6100	RP9	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	10002	NR2E3	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	9227	LRAT	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	84140	FAM161A	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	55812	SPATA7	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	55624	POMGNT1	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	79797	ZNF408	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	403	ARL3	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	5145	PDE6A	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	10210	TOPORS	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	8842	PROM1	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	9128	PRPF4	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	145226	RDH12	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	50939	IMPG2	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	57545	CC2D2A	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	8481	OFD1	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	49855	SCAPER	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	9742	IFT140	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	2979	GUCA1B	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	1259	CNGA1	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	1258	CNGB1	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	60509	AGBL5	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	5961	PRPH2	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	388939	PCARE	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	7439	BEST1	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	9785	DHX38	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	7287	TULP1	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	5995	RGR	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	9129	PRPF3	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	55975	KLHL7	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	3617	IMPG1	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	94137	RP1L1	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	5158	PDE6B	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	6102	RP2	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	55857	KIZ	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	64218	SEMA4A	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	4901	NRL	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	157657	CFAP418	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	10594	PRPF8	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	84100	ARL6	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	6295	SAG	ORPHA:791
HP:0030610	Photoreceptor outer segment loss on macular OCT	79947	DHDDS	ORPHA:791
HP:0030618	Increased OCT-measured foveal thickness	6017	RLBP1	ORPHA:85128
HP:0030619	Reduced OCT-measured foveal thickness	7123	CLEC3B	OMIM:619977
HP:0030619	Reduced OCT-measured foveal thickness	2652	OPN1MW	ORPHA:16
HP:0030619	Reduced OCT-measured foveal thickness	5956	OPN1LW	ORPHA:16
HP:0030617	Abnormal OCT-measured foveal thickness	6017	RLBP1	ORPHA:85128
HP:0030617	Abnormal OCT-measured foveal thickness	7123	CLEC3B	OMIM:619977
HP:0030617	Abnormal OCT-measured foveal thickness	2652	OPN1MW	ORPHA:16
HP:0030617	Abnormal OCT-measured foveal thickness	5956	OPN1LW	ORPHA:16
HP:0030615	Foveal photoreceptor outer segment loss on macular OCT	5961	PRPH2	ORPHA:75377
HP:0030615	Foveal photoreceptor outer segment loss on macular OCT	3000	GUCY2D	ORPHA:75377
HP:0030615	Foveal photoreceptor outer segment loss on macular OCT	2978	GUCA1A	ORPHA:75377
HP:0030613	Abnormal foveal morphology on macular OCT	283652	SLC24A5	ORPHA:370097
HP:0030613	Abnormal foveal morphology on macular OCT	5961	PRPH2	ORPHA:75377
HP:0030613	Abnormal foveal morphology on macular OCT	3000	GUCY2D	ORPHA:75377
HP:0030613	Abnormal foveal morphology on macular OCT	2978	GUCA1A	ORPHA:75377
HP:0030613	Abnormal foveal morphology on macular OCT	6017	RLBP1	ORPHA:85128
HP:0030613	Abnormal foveal morphology on macular OCT	7123	CLEC3B	OMIM:619977
HP:0030613	Abnormal foveal morphology on macular OCT	2652	OPN1MW	ORPHA:16
HP:0030613	Abnormal foveal morphology on macular OCT	5956	OPN1LW	ORPHA:16
HP:0030613	Abnormal foveal morphology on macular OCT	5080	PAX6	ORPHA:250923
HP:0030613	Abnormal foveal morphology on macular OCT	2296	FOXC1	ORPHA:250923
HP:0030613	Abnormal foveal morphology on macular OCT	54765	TRIM44	ORPHA:250923
HP:0000622	Blurred vision	50964	SOST	OMIM:269500
HP:0000622	Blurred vision	6335	SCN9A	OMIM:133020
HP:0000622	Blurred vision	3736	KCNA1	OMIM:160120
HP:0000622	Blurred vision	3736	KCNA1	ORPHA:37612
HP:0000622	Blurred vision	1621	DBH	ORPHA:230
HP:0000622	Blurred vision	4137	MAPT	OMIM:601104
HP:0000622	Blurred vision	4137	MAPT	ORPHA:240071
HP:0000622	Blurred vision	4070	TACSTD2	OMIM:204870
HP:0000622	Blurred vision	4070	TACSTD2	ORPHA:98957
HP:0000622	Blurred vision	114548	NLRP3	OMIM:148200
HP:0000622	Blurred vision	1282	COL4A1	OMIM:175780
HP:0000622	Blurred vision	9881	TRANK1	ORPHA:33543
HP:0000622	Blurred vision	1308	COL17A1	ORPHA:293381
HP:0000622	Blurred vision	84277	DNAJC30	ORPHA:104
HP:0000622	Blurred vision	4535	MT-ND1	ORPHA:104
HP:0000622	Blurred vision	4536	MT-ND2	ORPHA:104
HP:0000622	Blurred vision	4538	MT-ND4	ORPHA:104
HP:0000622	Blurred vision	4720	NDUFS2	ORPHA:104
HP:0000622	Blurred vision	4512	MT-CO1	ORPHA:104
HP:0000622	Blurred vision	4514	MT-CO3	ORPHA:104
HP:0000622	Blurred vision	4519	MT-CYB	ORPHA:104
HP:0000622	Blurred vision	4508	MT-ATP6	ORPHA:104
HP:0000622	Blurred vision	4540	MT-ND5	ORPHA:104
HP:0000622	Blurred vision	4541	MT-ND6	ORPHA:104
HP:0000622	Blurred vision	4539	MT-ND4L	ORPHA:104
HP:0000622	Blurred vision	7045	TGFBI	ORPHA:98963
HP:0000622	Blurred vision	335	APOA1	ORPHA:425
HP:0000622	Blurred vision	19	ABCA1	ORPHA:425
HP:0000622	Blurred vision	6329	SCN4A	ORPHA:99734
HP:0000622	Blurred vision	9227	LRAT	ORPHA:364055
HP:0000622	Blurred vision	55812	SPATA7	ORPHA:364055
HP:0000622	Blurred vision	6121	RPE65	ORPHA:364055
HP:0000622	Blurred vision	167691	LCA5	ORPHA:364055
HP:0000622	Blurred vision	83959	SLC4A11	ORPHA:293603
HP:0000622	Blurred vision	3105	HLA-A	ORPHA:179
HP:0000622	Blurred vision	3123	HLA-DRB1	OMIM:181000
HP:0000622	Blurred vision	138050	HGSNAT	OMIM:616544
HP:0000622	Blurred vision	355	FAS	ORPHA:3437
HP:0000622	Blurred vision	26191	PTPN22	ORPHA:3437
HP:0000622	Blurred vision	6559	SLC12A3	OMIM:263800
HP:0000622	Blurred vision	6559	SLC12A3	ORPHA:358
HP:0000622	Blurred vision	10528	NOP56	ORPHA:276198
HP:0000622	Blurred vision	1188	CLCNKB	ORPHA:358
HP:0000622	Blurred vision	6935	ZEB1	ORPHA:98973
HP:0000622	Blurred vision	30813	VSX1	ORPHA:98973
HP:0000622	Blurred vision	58495	OVOL2	ORPHA:98973
HP:0000622	Blurred vision	79977	GRHL2	ORPHA:98973
HP:0000622	Blurred vision	1296	COL8A2	ORPHA:98973
HP:0000622	Blurred vision	477	ATP1A2	OMIM:602481
HP:0000622	Blurred vision	773	CACNA1A	OMIM:141500
HP:0025321	Copper accumulation in liver	123264	SLC51B	OMIM:619481
HP:0025321	Copper accumulation in liver	147007	TMEM199	OMIM:616829
HP:0025321	Copper accumulation in liver	84317	CCDC115	OMIM:616828
HP:0025321	Copper accumulation in liver	10667	FARS2	OMIM:614946
HP:0025321	Copper accumulation in liver	55532	SLC30A10	ORPHA:309854
HP:0025323	Abnormal arterial physiology	3043	HBB	ORPHA:232
HP:0025323	Abnormal arterial physiology	94	ACVRL1	OMIM:600376
HP:0025323	Abnormal arterial physiology	2022	ENG	OMIM:187300
HP:0025323	Abnormal arterial physiology	81031	SLC2A10	OMIM:208050
HP:0025323	Abnormal arterial physiology	6651	SON	ORPHA:500150
HP:0025323	Abnormal arterial physiology	6331	SCN5A	ORPHA:1344
HP:0025323	Abnormal arterial physiology	4878	NPPA	ORPHA:1344
HP:0025323	Abnormal arterial physiology	79184	BRCC3	ORPHA:280679
HP:0025323	Abnormal arterial physiology	2783	GNB2	OMIM:619503
HP:0025323	Abnormal arterial physiology	4629	MYH11	ORPHA:91387
HP:0025323	Abnormal arterial physiology	7046	TGFBR1	ORPHA:91387
HP:0025323	Abnormal arterial physiology	7048	TGFBR2	ORPHA:91387
HP:0025323	Abnormal arterial physiology	4015	LOX	ORPHA:91387
HP:0025323	Abnormal arterial physiology	4087	SMAD2	ORPHA:91387
HP:0025323	Abnormal arterial physiology	7043	TGFB3	ORPHA:91387
HP:0025323	Abnormal arterial physiology	4088	SMAD3	ORPHA:91387
HP:0025323	Abnormal arterial physiology	7042	TGFB2	ORPHA:91387
HP:0025323	Abnormal arterial physiology	4089	SMAD4	ORPHA:91387
HP:0025323	Abnormal arterial physiology	2200	FBN1	ORPHA:91387
HP:0025323	Abnormal arterial physiology	59	ACTA2	ORPHA:91387
HP:0025323	Abnormal arterial physiology	5592	PRKG1	ORPHA:91387
HP:0025323	Abnormal arterial physiology	2301	FOXE3	ORPHA:91387
HP:0025323	Abnormal arterial physiology	4144	MAT2A	ORPHA:91387
HP:0025323	Abnormal arterial physiology	23493	HEY2	ORPHA:91387
HP:0025323	Abnormal arterial physiology	8076	MFAP5	ORPHA:91387
HP:0025323	Abnormal arterial physiology	4638	MYLK	ORPHA:91387
HP:0025323	Abnormal arterial physiology	79875	THSD4	ORPHA:91387
HP:0025323	Abnormal arterial physiology	2658	GDF2	ORPHA:774
HP:0025323	Abnormal arterial physiology	7092	TLL1	ORPHA:99103
HP:0025323	Abnormal arterial physiology	57057	TBX20	ORPHA:99103
HP:0025323	Abnormal arterial physiology	4624	MYH6	ORPHA:99103
HP:0025323	Abnormal arterial physiology	1482	NKX2-5	ORPHA:99103
HP:0025323	Abnormal arterial physiology	70	ACTC1	ORPHA:99103
HP:0025323	Abnormal arterial physiology	10370	CITED2	ORPHA:99103
HP:0025323	Abnormal arterial physiology	2626	GATA4	ORPHA:99103
HP:0025323	Abnormal arterial physiology	2627	GATA6	ORPHA:99103
HP:0025323	Abnormal arterial physiology	4607	MYBPC3	OMIM:115197
HP:0025323	Abnormal arterial physiology	2717	GLA	OMIM:301500
HP:0025323	Abnormal arterial physiology	2717	GLA	ORPHA:324
HP:0025323	Abnormal arterial physiology	55107	ANO1	OMIM:620687
HP:0025323	Abnormal arterial physiology	71	ACTG1	ORPHA:2995
HP:0025323	Abnormal arterial physiology	60	ACTB	ORPHA:2995
HP:0025323	Abnormal arterial physiology	5654	HTRA1	OMIM:600142
HP:0025323	Abnormal arterial physiology	5654	HTRA1	OMIM:616779
HP:0025323	Abnormal arterial physiology	3845	KRAS	OMIM:600268
HP:0025323	Abnormal arterial physiology	10019	SH2B3	ORPHA:3318
HP:0025323	Abnormal arterial physiology	811	CALR	ORPHA:3318
HP:0025323	Abnormal arterial physiology	7157	TP53	ORPHA:3318
HP:0025323	Abnormal arterial physiology	54790	TET2	ORPHA:3318
HP:0025323	Abnormal arterial physiology	57674	RNF213	OMIM:607151
HP:0025323	Abnormal arterial physiology	11093	ADAMTS13	OMIM:274150
HP:0025323	Abnormal arterial physiology	55901	THSD1	ORPHA:231160
HP:0025323	Abnormal arterial physiology	7049	TGFBR3	ORPHA:231160
HP:0025323	Abnormal arterial physiology	83854	ANGPTL6	ORPHA:231160
HP:0025323	Abnormal arterial physiology	4854	NOTCH3	ORPHA:136
HP:0025323	Abnormal arterial physiology	4352	MPL	ORPHA:71493
HP:0025323	Abnormal arterial physiology	7066	THPO	ORPHA:71493
HP:0025323	Abnormal arterial physiology	875	CBS	ORPHA:394
HP:0025323	Abnormal arterial physiology	5290	PIK3CA	ORPHA:60040
HP:0025323	Abnormal arterial physiology	162417	NAGS	ORPHA:927
HP:0025323	Abnormal arterial physiology	4625	MYH7	ORPHA:1880
HP:0025323	Abnormal arterial physiology	6804	STX1A	ORPHA:904
HP:0025323	Abnormal arterial physiology	7461	CLIP2	ORPHA:904
HP:0025323	Abnormal arterial physiology	84277	DNAJC30	ORPHA:904
HP:0025323	Abnormal arterial physiology	8468	FKBP6	ORPHA:904
HP:0025323	Abnormal arterial physiology	5982	RFC2	ORPHA:904
HP:0025323	Abnormal arterial physiology	2969	GTF2I	ORPHA:904
HP:0025323	Abnormal arterial physiology	3984	LIMK1	ORPHA:904
HP:0025323	Abnormal arterial physiology	9569	GTF2IRD1	ORPHA:904
HP:0025323	Abnormal arterial physiology	155382	VPS37D	ORPHA:904
HP:0025323	Abnormal arterial physiology	155368	METTL27	ORPHA:904
HP:0025323	Abnormal arterial physiology	114049	BUD23	ORPHA:904
HP:0025323	Abnormal arterial physiology	7458	EIF4H	ORPHA:904
HP:0025323	Abnormal arterial physiology	84163	GTF2IRD2	ORPHA:904
HP:0025323	Abnormal arterial physiology	26608	TBL2	ORPHA:904
HP:0025323	Abnormal arterial physiology	653361	NCF1	ORPHA:904
HP:0025323	Abnormal arterial physiology	135886	TMEM270	ORPHA:904
HP:0025323	Abnormal arterial physiology	9031	BAZ1B	ORPHA:904
HP:0025323	Abnormal arterial physiology	2006	ELN	ORPHA:904
HP:0025323	Abnormal arterial physiology	6340	SCNN1G	ORPHA:526
HP:0025323	Abnormal arterial physiology	6338	SCNN1B	ORPHA:526
HP:0025323	Abnormal arterial physiology	6337	SCNN1A	ORPHA:526
HP:0025323	Abnormal arterial physiology	3115	HLA-DPB1	ORPHA:900
HP:0025323	Abnormal arterial physiology	5657	PRTN3	ORPHA:900
HP:0025323	Abnormal arterial physiology	3113	HLA-DPA1	ORPHA:900
HP:0025323	Abnormal arterial physiology	8517	IKBKG	ORPHA:464
HP:0025323	Abnormal arterial physiology	351	APP	OMIM:605714
HP:0025323	Abnormal arterial physiology	50485	SMARCAL1	ORPHA:1830
HP:0025323	Abnormal arterial physiology	50485	SMARCAL1	OMIM:242900
HP:0025323	Abnormal arterial physiology	2050	EPHB4	ORPHA:137667
HP:0025323	Abnormal arterial physiology	149233	IL23R	ORPHA:117
HP:0025323	Abnormal arterial physiology	4210	MEFV	ORPHA:117
HP:0025323	Abnormal arterial physiology	1230	CCR1	ORPHA:117
HP:0025323	Abnormal arterial physiology	355	FAS	ORPHA:117
HP:0025323	Abnormal arterial physiology	3592	IL12A	ORPHA:117
HP:0025323	Abnormal arterial physiology	101928376	IL12A-AS1	ORPHA:117
HP:0025323	Abnormal arterial physiology	7099	TLR4	ORPHA:117
HP:0025323	Abnormal arterial physiology	3459	IFNGR1	ORPHA:117
HP:0025323	Abnormal arterial physiology	337867	UBAC2	ORPHA:117
HP:0025323	Abnormal arterial physiology	51752	ERAP1	ORPHA:117
HP:0025323	Abnormal arterial physiology	8302	KLRC4	ORPHA:117
HP:0025323	Abnormal arterial physiology	1499	CTNNB1	ORPHA:54595
HP:0025323	Abnormal arterial physiology	673	BRAF	ORPHA:54595
HP:0025323	Abnormal arterial physiology	4907	NT5E	OMIM:211800
HP:0025323	Abnormal arterial physiology	189	AGXT	OMIM:259900
HP:0025323	Abnormal arterial physiology	3717	JAK2	ORPHA:729
HP:0025323	Abnormal arterial physiology	5167	ENPP1	ORPHA:758
HP:0025323	Abnormal arterial physiology	368	ABCC6	ORPHA:758
HP:0025323	Abnormal arterial physiology	368	ABCC6	OMIM:264800
HP:0025323	Abnormal arterial physiology	3593	IL12B	ORPHA:3287
HP:0025323	Abnormal arterial physiology	3106	HLA-B	ORPHA:3287
HP:0025323	Abnormal arterial physiology	6945	MLX	ORPHA:3287
HP:0025323	Abnormal arterial physiology	64131	XYLT1	OMIM:264800
HP:0025323	Abnormal arterial physiology	64132	XYLT2	OMIM:264800
HP:0025323	Abnormal arterial physiology	165	AEBP1	OMIM:618000
HP:0025323	Abnormal arterial physiology	1281	COL3A1	OMIM:130050
HP:0025323	Abnormal arterial physiology	1277	COL1A1	ORPHA:287
HP:0025323	Abnormal arterial physiology	1277	COL1A1	OMIM:619115
HP:0025323	Abnormal arterial physiology	1289	COL5A1	ORPHA:287
HP:0025323	Abnormal arterial physiology	1290	COL5A2	ORPHA:287
HP:0025323	Abnormal arterial physiology	5351	PLOD1	OMIM:225400
HP:0025323	Abnormal arterial physiology	5351	PLOD1	ORPHA:1900
HP:0025323	Abnormal arterial physiology	1278	COL1A2	OMIM:619120
HP:0025323	Abnormal arterial physiology	55033	FKBP14	ORPHA:300179
HP:0025323	Abnormal arterial physiology	8985	PLOD3	OMIM:612394
HP:0025323	Abnormal arterial physiology	462	SERPINC1	OMIM:613118
HP:0025323	Abnormal arterial physiology	7840	ALMS1	ORPHA:64
HP:0025323	Abnormal arterial physiology	26191	PTPN22	ORPHA:397
HP:0025323	Abnormal arterial physiology	3123	HLA-DRB1	ORPHA:397
HP:0025323	Abnormal arterial physiology	8974	P4HA2	ORPHA:397
HP:0025323	Abnormal arterial physiology	6288	SAA1	ORPHA:85445
HP:0025323	Abnormal arterial physiology	2982	GUCY1A1	OMIM:615750
HP:0025323	Abnormal arterial physiology	2982	GUCY1A1	ORPHA:401945
HP:0025323	Abnormal arterial physiology	11277	TREX1	OMIM:192315
HP:0025323	Abnormal arterial physiology	11277	TREX1	ORPHA:536
HP:0025323	Abnormal arterial physiology	11277	TREX1	OMIM:610448
HP:0025323	Abnormal arterial physiology	11277	TREX1	ORPHA:247691
HP:0025323	Abnormal arterial physiology	11277	TREX1	ORPHA:51
HP:0025323	Abnormal arterial physiology	27235	COQ2	ORPHA:227510
HP:0025323	Abnormal arterial physiology	27235	COQ2	ORPHA:98933
HP:0025323	Abnormal arterial physiology	6775	STAT4	ORPHA:93552
HP:0025323	Abnormal arterial physiology	6775	STAT4	ORPHA:536
HP:0025323	Abnormal arterial physiology	6696	SPP1	ORPHA:93552
HP:0025323	Abnormal arterial physiology	6696	SPP1	ORPHA:536
HP:0025323	Abnormal arterial physiology	6303	SAT1	ORPHA:93552
HP:0025323	Abnormal arterial physiology	3654	IRAK1	ORPHA:93552
HP:0025323	Abnormal arterial physiology	3654	IRAK1	ORPHA:536
HP:0025323	Abnormal arterial physiology	51816	ADA2	ORPHA:820
HP:0025323	Abnormal arterial physiology	51816	ADA2	OMIM:615688
HP:0025323	Abnormal arterial physiology	51284	TLR7	OMIM:301080
HP:0025323	Abnormal arterial physiology	51284	TLR7	ORPHA:536
HP:0025323	Abnormal arterial physiology	4000	LMNA	ORPHA:740
HP:0025323	Abnormal arterial physiology	10269	ZMPSTE24	ORPHA:740
HP:0025323	Abnormal arterial physiology	81575	APOLD1	OMIM:620715
HP:0025323	Abnormal arterial physiology	29927	SEC61A1	OMIM:620670
HP:0025323	Abnormal arterial physiology	2215	FCGR3B	ORPHA:536
HP:0025323	Abnormal arterial physiology	3684	ITGAM	ORPHA:536
HP:0025323	Abnormal arterial physiology	3586	IL10	ORPHA:536
HP:0025323	Abnormal arterial physiology	221895	JAZF1	ORPHA:536
HP:0025323	Abnormal arterial physiology	7292	TNFSF4	ORPHA:536
HP:0025323	Abnormal arterial physiology	640	BLK	ORPHA:536
HP:0025323	Abnormal arterial physiology	720	C4A	ORPHA:536
HP:0025323	Abnormal arterial physiology	55024	BANK1	ORPHA:536
HP:0025323	Abnormal arterial physiology	3500	IGHG1	ORPHA:536
HP:0025323	Abnormal arterial physiology	1493	CTLA4	ORPHA:536
HP:0025323	Abnormal arterial physiology	1380	CR2	ORPHA:536
HP:0025323	Abnormal arterial physiology	5133	PDCD1	ORPHA:536
HP:0025323	Abnormal arterial physiology	2113	ETS1	ORPHA:536
HP:0025323	Abnormal arterial physiology	2213	FCGR2B	ORPHA:536
HP:0025323	Abnormal arterial physiology	10318	TNIP1	ORPHA:536
HP:0025323	Abnormal arterial physiology	7332	UBE2L3	ORPHA:536
HP:0025323	Abnormal arterial physiology	79932	KIAA0319L	ORPHA:536
HP:0025323	Abnormal arterial physiology	4204	MECP2	ORPHA:536
HP:0025323	Abnormal arterial physiology	3663	IRF5	ORPHA:536
HP:0025323	Abnormal arterial physiology	721	C4B	ORPHA:536
HP:0025323	Abnormal arterial physiology	1773	DNASE1	ORPHA:536
HP:0025323	Abnormal arterial physiology	54899	PXK	ORPHA:536
HP:0025323	Abnormal arterial physiology	7128	TNFAIP3	ORPHA:536
HP:0025323	Abnormal arterial physiology	54	ACP5	OMIM:607944
HP:0025323	Abnormal arterial physiology	54	ACP5	ORPHA:1855
HP:0025323	Abnormal arterial physiology	54941	RNF125	OMIM:616260
HP:0025323	Abnormal arterial physiology	3930	LBR	OMIM:613471
HP:0025323	Abnormal arterial physiology	340061	STING1	OMIM:615934
HP:0025323	Abnormal arterial physiology	1282	COL4A1	OMIM:611773
HP:0025323	Abnormal arterial physiology	3265	HRAS	ORPHA:2874
HP:0025323	Abnormal arterial physiology	10535	RNASEH2A	ORPHA:51
HP:0025323	Abnormal arterial physiology	84153	RNASEH2C	ORPHA:51
HP:0025323	Abnormal arterial physiology	25939	SAMHD1	ORPHA:51
HP:0025323	Abnormal arterial physiology	79621	RNASEH2B	ORPHA:51
HP:0025323	Abnormal arterial physiology	103	ADAR	ORPHA:51
HP:0025323	Abnormal arterial physiology	100147744	RNU7-1	ORPHA:51
HP:0025323	Abnormal arterial physiology	134353	LSM11	ORPHA:51
HP:0025323	Abnormal arterial physiology	64135	IFIH1	ORPHA:51
HP:0025323	Abnormal arterial physiology	1188	CLCNKB	ORPHA:358
HP:0025323	Abnormal arterial physiology	6559	SLC12A3	ORPHA:358
HP:0025323	Abnormal arterial physiology	79709	COLGALT1	OMIM:618360
HP:0025323	Abnormal arterial physiology	4668	NAGA	OMIM:609242
HP:0025323	Abnormal arterial physiology	5286	PIK3C2A	OMIM:618440
HP:0025323	Abnormal arterial physiology	5921	RASA1	ORPHA:90307
HP:0025324	Arterial occlusion	189	AGXT	OMIM:259900
HP:0025324	Arterial occlusion	462	SERPINC1	OMIM:613118
HP:0025324	Arterial occlusion	4907	NT5E	ORPHA:289601
HP:0025325	Sparse medial eyebrow	23511	NUP188	OMIM:618804
HP:0025325	Sparse medial eyebrow	7994	KAT6A	OMIM:616268
HP:0025325	Sparse medial eyebrow	6595	SMARCA2	OMIM:601358
HP:0025325	Sparse medial eyebrow	6925	TCF4	OMIM:610954
HP:0025325	Sparse medial eyebrow	6477	SIAH1	OMIM:619314
HP:0025326	Retinal arterial occlusion	3043	HBB	ORPHA:232
HP:0025326	Retinal arterial occlusion	2202	EFEMP1	ORPHA:98977
HP:0025326	Retinal arterial occlusion	1545	CYP1B1	ORPHA:98977
HP:0025326	Retinal arterial occlusion	4653	MYOC	ORPHA:98977
HP:0025326	Retinal arterial occlusion	51816	ADA2	ORPHA:820
HP:0025328	Antepartum hemorrhage	2159	F10	ORPHA:328
HP:0025329	Anti-glutamic acid decarboxylase antibody positivity	3767	KCNJ11	OMIM:610582
HP:0025329	Anti-glutamic acid decarboxylase antibody positivity	3767	KCNJ11	OMIM:616329
HP:0025329	Anti-glutamic acid decarboxylase antibody positivity	5078	PAX4	OMIM:612225
HP:0025329	Anti-glutamic acid decarboxylase antibody positivity	9103	FCGR2C	ORPHA:3002
HP:0025329	Anti-glutamic acid decarboxylase antibody positivity	50943	FOXP3	OMIM:304790
HP:0025329	Anti-glutamic acid decarboxylase antibody positivity	83737	ITCH	ORPHA:228426
HP:0025329	Anti-glutamic acid decarboxylase antibody positivity	1854	DUT	OMIM:620044
HP:0030622	Abnormal foveal pit on macular OCT	5080	PAX6	ORPHA:250923
HP:0030622	Abnormal foveal pit on macular OCT	2296	FOXC1	ORPHA:250923
HP:0030622	Abnormal foveal pit on macular OCT	54765	TRIM44	ORPHA:250923
HP:0030620	Inner retinal layer loss on macular OCT	22926	ATF6	ORPHA:49382
HP:0030620	Inner retinal layer loss on macular OCT	5146	PDE6C	ORPHA:49382
HP:0030620	Inner retinal layer loss on macular OCT	6103	RPGR	ORPHA:49382
HP:0030620	Inner retinal layer loss on macular OCT	5149	PDE6H	ORPHA:49382
HP:0030620	Inner retinal layer loss on macular OCT	2780	GNAT2	ORPHA:49382
HP:0030620	Inner retinal layer loss on macular OCT	1261	CNGA3	ORPHA:49382
HP:0030620	Inner retinal layer loss on macular OCT	54714	CNGB3	ORPHA:49382
HP:0030629	Perifoveal ring of hyperautofluorescence	2202	EFEMP1	ORPHA:75376
HP:0030629	Perifoveal ring of hyperautofluorescence	3075	CFH	ORPHA:75376
HP:0030629	Perifoveal ring of hyperautofluorescence	3426	CFI	ORPHA:75376
HP:0030629	Perifoveal ring of hyperautofluorescence	8842	PROM1	OMIM:608051
HP:0030629	Perifoveal ring of hyperautofluorescence	26121	PRPF31	OMIM:600138
HP:0030629	Perifoveal ring of hyperautofluorescence	256471	MFSD8	OMIM:616170
HP:0030629	Perifoveal ring of hyperautofluorescence	10594	PRPF8	OMIM:600059
HP:0030629	Perifoveal ring of hyperautofluorescence	84839	RAX2	OMIM:620102
HP:0030629	Perifoveal ring of hyperautofluorescence	83723	TLCD3B	OMIM:619531
HP:0030629	Perifoveal ring of hyperautofluorescence	26160	IFT172	OMIM:616394
HP:0030629	Perifoveal ring of hyperautofluorescence	55975	KLHL7	OMIM:612943
HP:0030629	Perifoveal ring of hyperautofluorescence	326	AIRE	OMIM:240300
HP:0030629	Perifoveal ring of hyperautofluorescence	23093	TTLL5	OMIM:615860
HP:0030629	Perifoveal ring of hyperautofluorescence	5961	PRPH2	ORPHA:75377
HP:0030629	Perifoveal ring of hyperautofluorescence	3000	GUCY2D	ORPHA:75377
HP:0030629	Perifoveal ring of hyperautofluorescence	2978	GUCA1A	ORPHA:75377
HP:0030625	Hyporeflective spaces on macular OCT	85465	SELENOI	ORPHA:506353
HP:0030625	Hyporeflective spaces on macular OCT	7078	TIMP3	ORPHA:59181
HP:0025330	Downgaze palsy	51604	PIGT	ORPHA:369837
HP:0025331	Upgaze palsy	2512	FTL	ORPHA:157846
HP:0025331	Upgaze palsy	84504	NKX6-2	OMIM:617560
HP:0025331	Upgaze palsy	91754	NEK9	OMIM:614262
HP:0025331	Upgaze palsy	23287	AGTPBP1	OMIM:618276
HP:0025331	Upgaze palsy	4593	MUSK	OMIM:616325
HP:0025331	Upgaze palsy	10157	AASS	ORPHA:2203
HP:0025331	Upgaze palsy	23230	VPS13A	ORPHA:2388
HP:0025331	Upgaze palsy	3748	KCNC3	ORPHA:98768
HP:0025331	Upgaze palsy	84320	ACBD6	OMIM:620785
HP:0025331	Upgaze palsy	8398	PLA2G6	ORPHA:35069
HP:0025331	Upgaze palsy	1737	DLAT	ORPHA:79244
HP:0025331	Upgaze palsy	5428	POLG	ORPHA:70595
HP:0025331	Upgaze palsy	56652	TWNK	ORPHA:70595
HP:0025331	Upgaze palsy	23400	ATP13A2	ORPHA:314632
HP:0025331	Upgaze palsy	6310	ATXN1	ORPHA:98755
HP:0025335	Delayed ability to stand	1303	COL12A1	ORPHA:536516
HP:0025335	Delayed ability to stand	4359	MPZ	OMIM:618184
HP:0025335	Delayed ability to stand	7840	ALMS1	ORPHA:64
HP:0025335	Delayed ability to stand	7809	BSND	ORPHA:89938
HP:0025335	Delayed ability to stand	1188	CLCNKB	ORPHA:89938
HP:0025335	Delayed ability to stand	1187	CLCNKA	ORPHA:89938
HP:0025335	Delayed ability to stand	54344	DPM3	OMIM:618992
HP:0025335	Delayed ability to stand	5251	PHEX	ORPHA:89936
HP:0025335	Delayed ability to stand	6390	SDHB	OMIM:619224
HP:0025335	Delayed ability to stand	57498	KIDINS220	OMIM:617296
HP:0025335	Delayed ability to stand	2548	GAA	ORPHA:308552
HP:0025335	Delayed ability to stand	91875	TTC5	OMIM:619244
HP:0025335	Delayed ability to stand	6326	SCN2A	OMIM:618924
HP:0025335	Delayed ability to stand	55628	ZNF407	OMIM:619557
HP:0025335	Delayed ability to stand	3708	ITPR1	OMIM:117360
HP:0025335	Delayed ability to stand	3708	ITPR1	OMIM:206700
HP:0025335	Delayed ability to stand	22845	DOLK	ORPHA:91131
HP:0025335	Delayed ability to stand	1737	DLAT	ORPHA:79244
HP:0025336	Delayed ability to sit	2137	EXTL3	ORPHA:508533
HP:0025336	Delayed ability to sit	7840	ALMS1	ORPHA:64
HP:0025336	Delayed ability to sit	1281	COL3A1	OMIM:618343
HP:0025336	Delayed ability to sit	1499	CTNNB1	OMIM:615075
HP:0025336	Delayed ability to sit	339983	NAT8L	OMIM:614063
HP:0025336	Delayed ability to sit	340533	NEXMIF	OMIM:300912
HP:0025336	Delayed ability to sit	56896	DPYSL5	OMIM:619435
HP:0025336	Delayed ability to sit	1144	CHRND	OMIM:616321
HP:0025336	Delayed ability to sit	51728	POLR3K	OMIM:619310
HP:0025336	Delayed ability to sit	7204	TRIO	OMIM:618825
HP:0025336	Delayed ability to sit	64116	SLC39A8	OMIM:616721
HP:0025336	Delayed ability to sit	2495	FTH1	OMIM:620669
HP:0025336	Delayed ability to sit	2290	FOXG1	OMIM:613454
HP:0025336	Delayed ability to sit	8573	CASK	OMIM:300749
HP:0025336	Delayed ability to sit	8452	CUL3	OMIM:619239
HP:0025336	Delayed ability to sit	7701	ZNF142	OMIM:618425
HP:0025336	Delayed ability to sit	3098	HK1	OMIM:618547
HP:0025336	Delayed ability to sit	4191	MDH2	OMIM:617339
HP:0025336	Delayed ability to sit	56623	INPP5E	OMIM:213300
HP:0025336	Delayed ability to sit	7443	VRK1	OMIM:620542
HP:0025336	Delayed ability to sit	5354	PLP1	ORPHA:280219
HP:0025336	Delayed ability to sit	58	ACTA1	OMIM:620265
HP:0025336	Delayed ability to sit	22859	ADGRL1	OMIM:620065
HP:0025336	Delayed ability to sit	8936	WASF1	OMIM:618707
HP:0025336	Delayed ability to sit	1605	DAG1	ORPHA:370997
HP:0025336	Delayed ability to sit	111	ADCY5	OMIM:606703
HP:0025336	Delayed ability to sit	111	ADCY5	OMIM:619651
HP:0025336	Delayed ability to sit	4983	OPHN1	OMIM:300486
HP:0025336	Delayed ability to sit	80232	WDR26	ORPHA:513456
HP:0025336	Delayed ability to sit	3020	H3-3A	OMIM:619720
HP:0025336	Delayed ability to sit	2548	GAA	ORPHA:308552
HP:0025336	Delayed ability to sit	6651	SON	OMIM:617140
HP:0025336	Delayed ability to sit	10659	CELF2	OMIM:619561
HP:0025336	Delayed ability to sit	7358	UGDH	OMIM:618792
HP:0025336	Delayed ability to sit	91875	TTC5	OMIM:619244
HP:0025336	Delayed ability to sit	2904	GRIN2B	OMIM:616139
HP:0025336	Delayed ability to sit	2902	GRIN1	OMIM:617820
HP:0025336	Delayed ability to sit	80055	PGAP1	OMIM:615802
HP:0025336	Delayed ability to sit	3097	HIVEP2	OMIM:616977
HP:0025336	Delayed ability to sit	3708	ITPR1	OMIM:117360
HP:0025336	Delayed ability to sit	3708	ITPR1	OMIM:206700
HP:0025336	Delayed ability to sit	5010	CLDN11	OMIM:619328
HP:0025336	Delayed ability to sit	28960	DCPS	OMIM:616459
HP:0025336	Delayed ability to sit	25782	RAB3GAP2	OMIM:212720
HP:0025336	Delayed ability to sit	55768	NGLY1	ORPHA:404454
HP:0025336	Delayed ability to sit	64221	ROBO3	OMIM:607313
HP:0025336	Delayed ability to sit	9215	LARGE1	OMIM:608840
HP:0025336	Delayed ability to sit	161725	OTUD7A	OMIM:620790
HP:0025336	Delayed ability to sit	84679	SLC9A7	OMIM:301024
HP:0025336	Delayed ability to sit	5934	RBL2	OMIM:619690
HP:0025336	Delayed ability to sit	23387	SIK3	OMIM:618162
HP:0025336	Delayed ability to sit	55777	MBD5	OMIM:156200
HP:0025336	Delayed ability to sit	4677	NARS1	OMIM:619091
HP:0025336	Delayed ability to sit	4677	NARS1	OMIM:619092
HP:0025336	Delayed ability to sit	4204	MECP2	OMIM:300055
HP:0025336	Delayed ability to sit	4204	MECP2	OMIM:300260
HP:0025336	Delayed ability to sit	57020	VPS35L	OMIM:619135
HP:0025336	Delayed ability to sit	129685	TAF8	OMIM:619972
HP:0025336	Delayed ability to sit	6843	VAMP1	OMIM:618323
HP:0025336	Delayed ability to sit	2590	GALNT2	OMIM:618885
HP:0025336	Delayed ability to sit	6571	SLC18A2	OMIM:618049
HP:0025336	Delayed ability to sit	8120	AP3B2	OMIM:617276
HP:0025336	Delayed ability to sit	738	VPS51	OMIM:618606
HP:0025336	Delayed ability to sit	10381	TUBB3	ORPHA:300570
HP:0025336	Delayed ability to sit	7994	KAT6A	OMIM:616268
HP:0025336	Delayed ability to sit	23499	MACF1	OMIM:618325
HP:0025336	Delayed ability to sit	2770	GNAI1	OMIM:619854
HP:0025336	Delayed ability to sit	5430	POLR2A	OMIM:618603
HP:0025336	Delayed ability to sit	5048	PAFAH1B1	ORPHA:95232
HP:0025336	Delayed ability to sit	1487	CTBP1	OMIM:617915
HP:0025336	Delayed ability to sit	51608	GET4	OMIM:620200
HP:0025336	Delayed ability to sit	2898	GRIK2	OMIM:619580
HP:0025336	Delayed ability to sit	6390	SDHB	OMIM:619224
HP:0025336	Delayed ability to sit	54903	MKS1	OMIM:249000
HP:0025336	Delayed ability to sit	8621	CDK13	OMIM:617360
HP:0025336	Delayed ability to sit	8665	EIF3F	OMIM:618295
HP:0025336	Delayed ability to sit	57231	SNX14	OMIM:616354
HP:0025336	Delayed ability to sit	4761	NEUROD2	OMIM:618374
HP:0025336	Delayed ability to sit	5833	PCYT2	OMIM:618770
HP:0025336	Delayed ability to sit	1140	CHRNB1	OMIM:616313
HP:0025336	Delayed ability to sit	4208	MEF2C	OMIM:613443
HP:0025336	Delayed ability to sit	6304	SATB1	OMIM:619229
HP:0025336	Delayed ability to sit	81603	TRIM8	OMIM:619428
HP:0025336	Delayed ability to sit	284439	SLC25A42	OMIM:618416
HP:0025336	Delayed ability to sit	6874	TAF4	OMIM:620450
HP:0025336	Delayed ability to sit	27245	AHDC1	OMIM:615829
HP:0025336	Delayed ability to sit	90952	ESAM	OMIM:620371
HP:0025337	Red eye	695	BTK	OMIM:300755
HP:0025337	Red eye	695	BTK	ORPHA:47
HP:0025337	Red eye	695	BTK	OMIM:307200
HP:0025337	Red eye	114548	NLRP3	OMIM:617772
HP:0025337	Red eye	114548	NLRP3	ORPHA:575
HP:0025337	Red eye	114548	NLRP3	ORPHA:47045
HP:0025337	Red eye	114548	NLRP3	OMIM:191900
HP:0025337	Red eye	114548	NLRP3	OMIM:120100
HP:0025337	Red eye	1643	DDB2	OMIM:278740
HP:0025337	Red eye	2263	FGFR2	OMIM:149730
HP:0025337	Red eye	2263	FGFR2	OMIM:123500
HP:0025337	Red eye	2263	FGFR2	ORPHA:207
HP:0025337	Red eye	987	LRBA	OMIM:614700
HP:0025337	Red eye	1736	DKC1	OMIM:305000
HP:0025337	Red eye	1776	DNASE1L3	ORPHA:36412
HP:0025337	Red eye	2778	GNAS	ORPHA:94089
HP:0025337	Red eye	2778	GNAS	ORPHA:79443
HP:0025337	Red eye	2778	GNAS	ORPHA:79444
HP:0025337	Red eye	8675	STX16	ORPHA:94089
HP:0025337	Red eye	22947	DUX4L1	ORPHA:269
HP:0025337	Red eye	1789	DNMT3B	ORPHA:269
HP:0025337	Red eye	2483	FRG1	ORPHA:269
HP:0025337	Red eye	23347	SMCHD1	ORPHA:269
HP:0025337	Red eye	100288687	DUX4	ORPHA:269
HP:0025337	Red eye	1161	ERCC8	ORPHA:90321
HP:0025337	Red eye	1161	ERCC8	ORPHA:90322
HP:0025337	Red eye	2072	ERCC4	ORPHA:90321
HP:0025337	Red eye	2074	ERCC6	ORPHA:90321
HP:0025337	Red eye	2074	ERCC6	ORPHA:90322
HP:0025337	Red eye	2074	ERCC6	OMIM:278800
HP:0025337	Red eye	79650	USB1	OMIM:604173
HP:0025337	Red eye	2067	ERCC1	ORPHA:90322
HP:0025337	Red eye	55630	SLC39A4	ORPHA:37
HP:0025337	Red eye	51360	MBTPS2	OMIM:308800
HP:0025337	Red eye	51360	MBTPS2	ORPHA:2273
HP:0025337	Red eye	5896	RAG1	OMIM:601457
HP:0025337	Red eye	5897	RAG2	OMIM:601457
HP:0025337	Red eye	3106	HLA-B	ORPHA:29207
HP:0025337	Red eye	3106	HLA-B	ORPHA:36426
HP:0025337	Red eye	1294	COL7A1	OMIM:226600
HP:0025337	Red eye	162	AP1B1	OMIM:242150
HP:0025337	Red eye	5429	POLH	OMIM:278750
HP:0025337	Red eye	8626	TP63	OMIM:103285
HP:0025337	Red eye	8626	TP63	OMIM:106260
HP:0025337	Red eye	7132	TNFRSF1A	ORPHA:32960
HP:0025337	Red eye	7132	TNFRSF1A	OMIM:142680
HP:0025337	Red eye	7086	TKT	ORPHA:488618
HP:0025337	Red eye	65082	VPS33A	ORPHA:505248
HP:0025337	Red eye	10320	IKZF1	ORPHA:36426
HP:0025337	Red eye	115650	TNFRSF13C	OMIM:240500
HP:0025337	Red eye	29851	ICOS	OMIM:240500
HP:0025337	Red eye	29851	ICOS	OMIM:607594
HP:0025337	Red eye	930	CD19	OMIM:240500
HP:0025337	Red eye	930	CD19	OMIM:613493
HP:0025337	Red eye	23495	TNFRSF13B	OMIM:240500
HP:0025337	Red eye	1380	CR2	OMIM:240500
HP:0025337	Red eye	7037	TFRC	OMIM:616740
HP:0025337	Red eye	686	BTD	OMIM:253260
HP:0025337	Red eye	686	BTD	ORPHA:79241
HP:0025337	Red eye	2077	ERF	ORPHA:207
HP:0025337	Red eye	10804	GJB6	OMIM:129500
HP:0025337	Red eye	10804	GJB6	ORPHA:477
HP:0025337	Red eye	2706	GJB2	ORPHA:477
HP:0025337	Red eye	7454	WAS	ORPHA:906
HP:0025337	Red eye	7456	WIPF1	ORPHA:906
HP:0025337	Red eye	7507	XPA	OMIM:278700
HP:0025337	Red eye	3507	IGHM	OMIM:601495
HP:0025337	Red eye	3507	IGHM	ORPHA:33110
HP:0025337	Red eye	8676	STX11	OMIM:603552
HP:0025337	Red eye	2261	FGFR3	OMIM:620192
HP:0025337	Red eye	5075	PAX1	OMIM:615560
HP:0025337	Red eye	974	CD79B	OMIM:612692
HP:0025337	Red eye	974	CD79B	ORPHA:33110
HP:0025337	Red eye	5340	PLG	OMIM:217090
HP:0025337	Red eye	55612	FERMT1	ORPHA:2908
HP:0025337	Red eye	7390	UROS	OMIM:263700
HP:0025337	Red eye	5692	PSMB4	OMIM:617591
HP:0025337	Red eye	7994	KAT6A	OMIM:616268
HP:0025337	Red eye	404672	GTF2H5	ORPHA:33364
HP:0025337	Red eye	833	CARS1	ORPHA:33364
HP:0025337	Red eye	2068	ERCC2	ORPHA:33364
HP:0025337	Red eye	2068	ERCC2	OMIM:278730
HP:0025337	Red eye	7737	RNF113A	ORPHA:33364
HP:0025337	Red eye	136647	MPLKIP	ORPHA:33364
HP:0025337	Red eye	6897	TARS1	ORPHA:33364
HP:0025337	Red eye	16	AARS1	ORPHA:33364
HP:0025337	Red eye	2071	ERCC3	ORPHA:33364
HP:0025337	Red eye	2961	GTF2E2	ORPHA:33364
HP:0025337	Red eye	2303	FOXC2	ORPHA:33001
HP:0025337	Red eye	2303	FOXC2	OMIM:153400
HP:0025337	Red eye	7508	XPC	OMIM:278720
HP:0025337	Red eye	29110	TBK1	OMIM:620880
HP:0025337	Red eye	54809	SAMD9	OMIM:610455
HP:0025337	Red eye	5696	PSMB8	OMIM:256040
HP:0025337	Red eye	4067	LYN	OMIM:620376
HP:0025337	Red eye	3321	IGSF3	OMIM:149700
HP:0025337	Red eye	6929	TCF3	ORPHA:33110
HP:0025337	Red eye	7922	SLC39A7	ORPHA:33110
HP:0025337	Red eye	973	CD79A	ORPHA:33110
HP:0025337	Red eye	6688	SPI1	ORPHA:33110
HP:0025337	Red eye	3543	IGLL1	ORPHA:33110
HP:0025337	Red eye	29760	BLNK	ORPHA:33110
HP:0025337	Red eye	5295	PIK3R1	ORPHA:33110
HP:0025337	Red eye	56262	LRRC8A	ORPHA:33110
HP:0025337	Red eye	6720	SREBF1	OMIM:158310
HP:0025337	Red eye	2255	FGF10	ORPHA:2363
HP:0025337	Red eye	3141	HLCS	ORPHA:79242
HP:0025337	Red eye	2623	GATA1	ORPHA:79277
HP:0025337	Red eye	326	AIRE	OMIM:240300
HP:0025337	Red eye	7389	UROD	ORPHA:95159
HP:0025337	Red eye	6335	SCN9A	OMIM:133020
HP:0025337	Red eye	5080	PAX6	ORPHA:250923
HP:0025337	Red eye	2296	FOXC1	ORPHA:250923
HP:0025337	Red eye	54765	TRIM44	ORPHA:250923
HP:0025337	Red eye	55699	IARS2	OMIM:616007
HP:0025337	Red eye	1308	COL17A1	ORPHA:293381
HP:0025337	Red eye	29926	GMPPA	ORPHA:869
HP:0025337	Red eye	60684	TRAPPC11	ORPHA:869
HP:0025337	Red eye	8086	AAAS	ORPHA:869
HP:0025337	Red eye	2934	GSN	ORPHA:85448
HP:0025337	Red eye	22861	NLRP1	OMIM:617388
HP:0025337	Red eye	4081	MAB21L1	OMIM:618479
HP:0025337	Red eye	4081	MAB21L1	ORPHA:495875
HP:0025337	Red eye	488	ATP2A2	ORPHA:218
HP:0025337	Red eye	3930	LBR	ORPHA:779
HP:0025337	Red eye	54941	RNF125	OMIM:616260
HP:0025337	Red eye	4547	MTTP	ORPHA:14
HP:0025337	Red eye	64127	NOD2	OMIM:617321
HP:0025337	Red eye	7543	ZFX	OMIM:301118
HP:0025337	Red eye	4069	LYZ	OMIM:620658
HP:0025337	Red eye	2200	FBN1	OMIM:616914
HP:0025337	Red eye	165	AEBP1	ORPHA:536532
HP:0025337	Red eye	56244	BTNL2	ORPHA:797
HP:0025337	Red eye	3123	HLA-DRB1	ORPHA:797
HP:0025337	Red eye	149233	IL23R	ORPHA:117
HP:0025337	Red eye	6775	STAT4	ORPHA:117
HP:0025337	Red eye	3586	IL10	ORPHA:117
HP:0025337	Red eye	4210	MEFV	ORPHA:117
HP:0025337	Red eye	1230	CCR1	ORPHA:117
HP:0025337	Red eye	3592	IL12A	ORPHA:117
HP:0025337	Red eye	101928376	IL12A-AS1	ORPHA:117
HP:0025337	Red eye	7099	TLR4	ORPHA:117
HP:0025337	Red eye	3459	IFNGR1	ORPHA:117
HP:0025337	Red eye	720	C4A	ORPHA:117
HP:0025337	Red eye	337867	UBAC2	ORPHA:117
HP:0025337	Red eye	51752	ERAP1	ORPHA:117
HP:0025337	Red eye	8302	KLRC4	ORPHA:117
HP:0025337	Red eye	5965	RECQL	OMIM:620370
HP:0025337	Red eye	7045	TGFBI	ORPHA:98964
HP:0025337	Red eye	4137	MAPT	ORPHA:240071
HP:0025337	Red eye	6472	SHMT2	OMIM:619121
HP:0025337	Red eye	355	FAS	ORPHA:3437
HP:0025337	Red eye	26191	PTPN22	ORPHA:3437
HP:0025337	Red eye	164	AP1G1	OMIM:619548
HP:0030632	Hypoautofluorescent macular lesion	2202	EFEMP1	ORPHA:75376
HP:0030632	Hypoautofluorescent macular lesion	3075	CFH	ORPHA:75376
HP:0030632	Hypoautofluorescent macular lesion	3426	CFI	ORPHA:75376
HP:0030632	Hypoautofluorescent macular lesion	6103	RPGR	OMIM:304020
HP:0030631	Hyperautofluorescent macular lesion	2202	EFEMP1	ORPHA:75376
HP:0030631	Hyperautofluorescent macular lesion	3075	CFH	ORPHA:75376
HP:0030631	Hyperautofluorescent macular lesion	3426	CFI	ORPHA:75376
HP:0030631	Hyperautofluorescent macular lesion	157657	CFAP418	OMIM:617406
HP:0030631	Hyperautofluorescent macular lesion	84100	ARL6	OMIM:209900
HP:0030631	Hyperautofluorescent macular lesion	79140	CCDC28B	OMIM:209900
HP:0030631	Hyperautofluorescent macular lesion	582	BBS1	OMIM:209900
HP:0030631	Hyperautofluorescent macular lesion	83723	TLCD3B	OMIM:619531
HP:0030631	Hyperautofluorescent macular lesion	5961	PRPH2	ORPHA:75377
HP:0030631	Hyperautofluorescent macular lesion	3000	GUCY2D	ORPHA:75377
HP:0030631	Hyperautofluorescent macular lesion	2978	GUCA1A	ORPHA:75377
HP:0030631	Hyperautofluorescent macular lesion	55624	POMGNT1	OMIM:617123
HP:0030631	Hyperautofluorescent macular lesion	22901	ARSG	OMIM:618144
HP:0030639	Congenital stationary night blindness with abnormal fundus	4308	TRPM1	ORPHA:215
HP:0030639	Congenital stationary night blindness with abnormal fundus	57010	CABP4	ORPHA:215
HP:0030639	Congenital stationary night blindness with abnormal fundus	345193	LRIT3	ORPHA:215
HP:0030639	Congenital stationary night blindness with abnormal fundus	93589	CACNA2D4	ORPHA:215
HP:0030639	Congenital stationary night blindness with abnormal fundus	2916	GRM6	ORPHA:215
HP:0030639	Congenital stationary night blindness with abnormal fundus	5158	PDE6B	ORPHA:215
HP:0030639	Congenital stationary night blindness with abnormal fundus	440435	GPR179	ORPHA:215
HP:0030639	Congenital stationary night blindness with abnormal fundus	6011	GRK1	ORPHA:215
HP:0030639	Congenital stationary night blindness with abnormal fundus	778	CACNA1F	ORPHA:215
HP:0030639	Congenital stationary night blindness with abnormal fundus	6010	RHO	ORPHA:215
HP:0030639	Congenital stationary night blindness with abnormal fundus	9187	SLC24A1	ORPHA:215
HP:0030639	Congenital stationary night blindness with abnormal fundus	6295	SAG	ORPHA:215
HP:0030639	Congenital stationary night blindness with abnormal fundus	2784	GNB3	ORPHA:215
HP:0030639	Congenital stationary night blindness with abnormal fundus	2779	GNAT1	ORPHA:215
HP:0030639	Congenital stationary night blindness with abnormal fundus	60506	NYX	ORPHA:215
HP:0030639	Congenital stationary night blindness with abnormal fundus	5959	RDH5	OMIM:136880
HP:0030639	Congenital stationary night blindness with abnormal fundus	6017	RLBP1	OMIM:136880
HP:0030639	Congenital stationary night blindness with abnormal fundus	5961	PRPH2	OMIM:136880
HP:0030638	Congenital stationary night blindness with normal fundus	4308	TRPM1	ORPHA:215
HP:0030638	Congenital stationary night blindness with normal fundus	57010	CABP4	ORPHA:215
HP:0030638	Congenital stationary night blindness with normal fundus	345193	LRIT3	ORPHA:215
HP:0030638	Congenital stationary night blindness with normal fundus	93589	CACNA2D4	ORPHA:215
HP:0030638	Congenital stationary night blindness with normal fundus	2916	GRM6	ORPHA:215
HP:0030638	Congenital stationary night blindness with normal fundus	5158	PDE6B	ORPHA:215
HP:0030638	Congenital stationary night blindness with normal fundus	440435	GPR179	ORPHA:215
HP:0030638	Congenital stationary night blindness with normal fundus	6011	GRK1	ORPHA:215
HP:0030638	Congenital stationary night blindness with normal fundus	778	CACNA1F	ORPHA:215
HP:0030638	Congenital stationary night blindness with normal fundus	6010	RHO	ORPHA:215
HP:0030638	Congenital stationary night blindness with normal fundus	9187	SLC24A1	ORPHA:215
HP:0030638	Congenital stationary night blindness with normal fundus	6295	SAG	ORPHA:215
HP:0030638	Congenital stationary night blindness with normal fundus	2784	GNB3	ORPHA:215
HP:0030638	Congenital stationary night blindness with normal fundus	2779	GNAT1	ORPHA:215
HP:0030638	Congenital stationary night blindness with normal fundus	60506	NYX	ORPHA:215
HP:0000455	Broad nasal tip	9131	AIFM1	OMIM:300232
HP:0000455	Broad nasal tip	324	APC	ORPHA:261584
HP:0000455	Broad nasal tip	8367	H4C5	OMIM:619950
HP:0000455	Broad nasal tip	84282	RNF135	ORPHA:137634
HP:0000455	Broad nasal tip	7021	TFAP2B	OMIM:169100
HP:0000455	Broad nasal tip	5927	KDM5A	OMIM:620820
HP:0000455	Broad nasal tip	10060	ABCC9	OMIM:619719
HP:0000455	Broad nasal tip	23126	POGZ	ORPHA:468678
HP:0000455	Broad nasal tip	23126	POGZ	OMIM:616364
HP:0000455	Broad nasal tip	3190	HNRNPK	ORPHA:453504
HP:0000455	Broad nasal tip	3190	HNRNPK	ORPHA:352665
HP:0000455	Broad nasal tip	9578	CDC42BPB	OMIM:619841
HP:0000455	Broad nasal tip	80816	ASXL3	OMIM:615485
HP:0000455	Broad nasal tip	2137	EXTL3	OMIM:617425
HP:0000455	Broad nasal tip	10847	SRCAP	ORPHA:2044
HP:0000455	Broad nasal tip	25782	RAB3GAP2	OMIM:212720
HP:0000455	Broad nasal tip	29072	SETD2	OMIM:620157
HP:0000455	Broad nasal tip	29072	SETD2	OMIM:620155
HP:0000455	Broad nasal tip	7175	TPR	OMIM:620393
HP:0000455	Broad nasal tip	55650	PIGV	OMIM:239300
HP:0000455	Broad nasal tip	57492	ARID1B	OMIM:135900
HP:0000455	Broad nasal tip	57492	ARID1B	ORPHA:1465
HP:0000455	Broad nasal tip	64324	NSD1	OMIM:117550
HP:0000455	Broad nasal tip	80204	FBXO11	OMIM:618089
HP:0000455	Broad nasal tip	7528	YY1	OMIM:617557
HP:0000455	Broad nasal tip	23545	ATP6V0A2	ORPHA:2834
HP:0000455	Broad nasal tip	23545	ATP6V0A2	ORPHA:357074
HP:0000455	Broad nasal tip	64359	NXN	OMIM:618529
HP:0000455	Broad nasal tip	7994	KAT6A	ORPHA:457193
HP:0000455	Broad nasal tip	7994	KAT6A	OMIM:616268
HP:0000455	Broad nasal tip	1009	CDH11	OMIM:619736
HP:0000455	Broad nasal tip	1009	CDH11	ORPHA:1299
HP:0000455	Broad nasal tip	114034	TOE1	OMIM:614969
HP:0000455	Broad nasal tip	23325	WASHC4	OMIM:615817
HP:0000455	Broad nasal tip	7020	TFAP2A	OMIM:113620
HP:0000455	Broad nasal tip	7020	TFAP2A	ORPHA:1297
HP:0000455	Broad nasal tip	6872	TAF1	ORPHA:480907
HP:0000455	Broad nasal tip	6872	TAF1	OMIM:300966
HP:0000455	Broad nasal tip	5813	PURA	ORPHA:438216
HP:0000455	Broad nasal tip	23314	SATB2	OMIM:612313
HP:0000455	Broad nasal tip	3782	KCNN3	OMIM:618658
HP:0000455	Broad nasal tip	3425	IDUA	OMIM:607014
HP:0000455	Broad nasal tip	26834	RNU4-2	OMIM:620851
HP:0000455	Broad nasal tip	1499	CTNNB1	ORPHA:404473
HP:0000455	Broad nasal tip	1499	CTNNB1	OMIM:615075
HP:0000455	Broad nasal tip	9653	HS2ST1	OMIM:619194
HP:0000455	Broad nasal tip	253738	EBF3	OMIM:617330
HP:0000455	Broad nasal tip	56006	SMG9	OMIM:619995
HP:0000455	Broad nasal tip	29081	METTL5	OMIM:618665
HP:0000455	Broad nasal tip	5792	PTPRF	OMIM:616001
HP:0000455	Broad nasal tip	8558	CDK10	OMIM:617694
HP:0000455	Broad nasal tip	9091	PIGQ	OMIM:618548
HP:0000455	Broad nasal tip	8364	H4C3	OMIM:619758
HP:0000455	Broad nasal tip	84720	PIGO	OMIM:614749
HP:0000455	Broad nasal tip	93210	PGAP3	OMIM:615716
HP:0000455	Broad nasal tip	415	ARSL	ORPHA:79345
HP:0000455	Broad nasal tip	2736	GLI2	OMIM:610829
HP:0000455	Broad nasal tip	4036	LRP2	OMIM:222448
HP:0000455	Broad nasal tip	79718	TBL1XR1	OMIM:602342
HP:0000455	Broad nasal tip	57459	GATAD2B	ORPHA:363686
HP:0000455	Broad nasal tip	57459	GATAD2B	OMIM:615074
HP:0000455	Broad nasal tip	26137	ZBTB20	OMIM:259050
HP:0000455	Broad nasal tip	7750	ZMYM2	OMIM:619522
HP:0000455	Broad nasal tip	8733	GPAA1	ORPHA:529665
HP:0000455	Broad nasal tip	27086	FOXP1	ORPHA:391372
HP:0000455	Broad nasal tip	27086	FOXP1	OMIM:613670
HP:0000455	Broad nasal tip	50485	SMARCAL1	ORPHA:1830
HP:0000455	Broad nasal tip	81887	LAS1L	ORPHA:3459
HP:0000455	Broad nasal tip	55869	HDAC8	ORPHA:3459
HP:0000455	Broad nasal tip	55869	HDAC8	OMIM:300882
HP:0000455	Broad nasal tip	2006	ELN	OMIM:194050
HP:0000455	Broad nasal tip	51085	MLXIPL	OMIM:194050
HP:0000455	Broad nasal tip	57688	ZSWIM6	OMIM:603671
HP:0000455	Broad nasal tip	57688	ZSWIM6	ORPHA:1827
HP:0000455	Broad nasal tip	8573	CASK	ORPHA:163937
HP:0000455	Broad nasal tip	8573	CASK	OMIM:300749
HP:0000455	Broad nasal tip	25836	NIPBL	OMIM:122470
HP:0000455	Broad nasal tip	23219	FBXO28	OMIM:619777
HP:0000455	Broad nasal tip	51322	WAC	ORPHA:466950
HP:0000455	Broad nasal tip	2317	FLNB	OMIM:272460
HP:0000455	Broad nasal tip	85440	DOCK7	OMIM:615859
HP:0000455	Broad nasal tip	85440	DOCK7	ORPHA:411986
HP:0000455	Broad nasal tip	257	ALX3	OMIM:136760
HP:0000455	Broad nasal tip	55023	PHIP	ORPHA:589905
HP:0000455	Broad nasal tip	6261	RYR1	OMIM:619542
HP:0000455	Broad nasal tip	22930	RAB3GAP1	OMIM:619420
HP:0000455	Broad nasal tip	10664	CTCF	OMIM:615502
HP:0000455	Broad nasal tip	10664	CTCF	ORPHA:363611
HP:0000455	Broad nasal tip	196528	ARID2	OMIM:617808
HP:0000455	Broad nasal tip	196528	ARID2	ORPHA:1465
HP:0000455	Broad nasal tip	389827	MYMK	OMIM:254940
HP:0000455	Broad nasal tip	10075	HUWE1	OMIM:309590
HP:0000455	Broad nasal tip	3480	IGF1R	ORPHA:73273
HP:0000455	Broad nasal tip	6909	TBX2	OMIM:618223
HP:0000455	Broad nasal tip	1859	DYRK1A	ORPHA:268261
HP:0000455	Broad nasal tip	23394	ADNP	OMIM:615873
HP:0000455	Broad nasal tip	6885	MAP3K7	OMIM:617137
HP:0000455	Broad nasal tip	11133	KPTN	OMIM:615637
HP:0000455	Broad nasal tip	6418	SET	OMIM:618106
HP:0000455	Broad nasal tip	4076	CAPRIN1	OMIM:620782
HP:0000455	Broad nasal tip	5575	PRKAR1B	OMIM:619680
HP:0000455	Broad nasal tip	5515	PPP2CA	OMIM:618354
HP:0000455	Broad nasal tip	57511	COG6	ORPHA:363523
HP:0000455	Broad nasal tip	55784	MCTP2	ORPHA:1596
HP:0000455	Broad nasal tip	112939	NACC1	ORPHA:500545
HP:0000455	Broad nasal tip	112939	NACC1	OMIM:617393
HP:0000455	Broad nasal tip	5915	RARB	OMIM:615524
HP:0000455	Broad nasal tip	2720	GLB1	ORPHA:79255
HP:0000455	Broad nasal tip	9126	SMC3	OMIM:610759
HP:0000455	Broad nasal tip	4297	KMT2A	OMIM:605130
HP:0000455	Broad nasal tip	4750	NEK1	OMIM:252100
HP:0000455	Broad nasal tip	23221	RHOBTB2	OMIM:618004
HP:0000455	Broad nasal tip	4052	LTBP1	OMIM:619451
HP:0000455	Broad nasal tip	54496	PRMT7	OMIM:617157
HP:0000455	Broad nasal tip	3756	KCNH1	OMIM:135500
HP:0000455	Broad nasal tip	6597	SMARCA4	ORPHA:1465
HP:0000455	Broad nasal tip	6598	SMARCB1	ORPHA:1465
HP:0000455	Broad nasal tip	6659	SOX4	ORPHA:1465
HP:0000455	Broad nasal tip	8289	ARID1A	ORPHA:1465
HP:0000455	Broad nasal tip	5977	DPF2	ORPHA:1465
HP:0000455	Broad nasal tip	6601	SMARCC2	ORPHA:1465
HP:0000455	Broad nasal tip	6602	SMARCD1	ORPHA:1465
HP:0000455	Broad nasal tip	6605	SMARCE1	ORPHA:1465
HP:0000455	Broad nasal tip	6664	SOX11	ORPHA:1465
HP:0000455	Broad nasal tip	27315	PGAP2	OMIM:614207
HP:0000455	Broad nasal tip	22827	PUF60	ORPHA:508488
HP:0000455	Broad nasal tip	22827	PUF60	OMIM:615583
HP:0000455	Broad nasal tip	7403	KDM6A	OMIM:300867
HP:0000455	Broad nasal tip	51305	KCNK9	ORPHA:166108
HP:0000455	Broad nasal tip	5573	PRKAR1A	OMIM:101800
HP:0000455	Broad nasal tip	6638	SNRPN	ORPHA:177907
HP:0000455	Broad nasal tip	26040	SETBP1	ORPHA:798
HP:0000455	Broad nasal tip	64864	RFX7	OMIM:620330
HP:0000455	Broad nasal tip	64840	PORCN	OMIM:305600
HP:0000455	Broad nasal tip	8812	CCNK	OMIM:618147
HP:0000455	Broad nasal tip	65250	CPLANE1	OMIM:277170
HP:0000455	Broad nasal tip	65250	CPLANE1	ORPHA:2754
HP:0000455	Broad nasal tip	92002	CCNQ	OMIM:300707
HP:0000455	Broad nasal tip	80232	WDR26	OMIM:617616
HP:0000455	Broad nasal tip	5293	PIK3CD	ORPHA:221139
HP:0000455	Broad nasal tip	90417	KNSTRN	ORPHA:221139
HP:0000455	Broad nasal tip	526	ATP6V1B2	ORPHA:79500
HP:0000455	Broad nasal tip	57465	TBC1D24	ORPHA:79500
HP:0000455	Broad nasal tip	2132	EXT2	ORPHA:52022
HP:0000455	Broad nasal tip	60529	ALX4	ORPHA:52022
HP:0000455	Broad nasal tip	51317	PHF21A	ORPHA:52022
HP:0000455	Broad nasal tip	11198	SUPT16H	OMIM:619480
HP:0000455	Broad nasal tip	4893	NRAS	OMIM:137550
HP:0000455	Broad nasal tip	3265	HRAS	OMIM:137550
HP:0000455	Broad nasal tip	54880	BCOR	OMIM:300166
HP:0000455	Broad nasal tip	285590	SH3PXD2B	OMIM:249420
HP:0000455	Broad nasal tip	158326	FREM1	OMIM:248450
HP:0000455	Broad nasal tip	54870	QRICH1	OMIM:617982
HP:0000455	Broad nasal tip	6197	RPS6KA3	OMIM:300844
HP:0000455	Broad nasal tip	7291	TWIST1	OMIM:617746
HP:0000455	Broad nasal tip	60	ACTB	OMIM:620475
HP:0000455	Broad nasal tip	9759	HDAC4	OMIM:600430
HP:0000455	Broad nasal tip	55252	ASXL2	OMIM:617190
HP:0000455	Broad nasal tip	4081	MAB21L1	ORPHA:495875
HP:0000455	Broad nasal tip	523	ATP6V1A	ORPHA:357074
HP:0000455	Broad nasal tip	529	ATP6V1E1	ORPHA:357074
HP:0000455	Broad nasal tip	529	ATP6V1E1	OMIM:617402
HP:0000455	Broad nasal tip	7518	XRCC4	OMIM:616541
HP:0000455	Broad nasal tip	178	AGL	OMIM:232400
HP:0000455	Broad nasal tip	51780	KDM3B	OMIM:618846
HP:0000455	Broad nasal tip	2186	BPTF	OMIM:617755
HP:0000455	Broad nasal tip	23133	PHF8	ORPHA:85287
HP:0000455	Broad nasal tip	23133	PHF8	OMIM:300263
HP:0000455	Broad nasal tip	170692	ADAMTS18	OMIM:615458
HP:0000455	Broad nasal tip	79583	TMEM231	ORPHA:2754
HP:0000455	Broad nasal tip	10210	TOPORS	ORPHA:2754
HP:0000455	Broad nasal tip	9851	KIAA0753	ORPHA:2754
HP:0000455	Broad nasal tip	26123	TCTN3	ORPHA:2754
HP:0000455	Broad nasal tip	5147	PDE6D	ORPHA:2754
HP:0000455	Broad nasal tip	51259	TMEM216	ORPHA:2754
HP:0000455	Broad nasal tip	8481	OFD1	ORPHA:2754
HP:0000455	Broad nasal tip	317662	FAM149B1	ORPHA:2754
HP:0000455	Broad nasal tip	374654	KIF7	ORPHA:2754
HP:0000455	Broad nasal tip	11011	TLK2	OMIM:618050
HP:0000455	Broad nasal tip	1968	EIF2S3	OMIM:300148
HP:0000455	Broad nasal tip	23404	EXOSC2	OMIM:617763
HP:0000455	Broad nasal tip	3832	KIF11	OMIM:152950
HP:0000455	Broad nasal tip	1806	DPYD	ORPHA:293948
HP:0000455	Broad nasal tip	7543	ZFX	OMIM:301118
HP:0000455	Broad nasal tip	10736	SIX2	ORPHA:488437
HP:0000455	Broad nasal tip	25886	POC1A	OMIM:614813
HP:0025341	Corneal keratic precipitates	355	FAS	ORPHA:3437
HP:0025341	Corneal keratic precipitates	26191	PTPN22	ORPHA:3437
HP:0025342	Central retinal artery occlusion	51816	ADA2	ORPHA:820
HP:0025343	Lupus anticoagulant	7128	TNFAIP3	OMIM:616744
HP:0025343	Lupus anticoagulant	51816	ADA2	OMIM:615688
HP:0025343	Lupus anticoagulant	6775	STAT4	ORPHA:93552
HP:0025343	Lupus anticoagulant	6696	SPP1	ORPHA:93552
HP:0025343	Lupus anticoagulant	6303	SAT1	ORPHA:93552
HP:0025343	Lupus anticoagulant	3654	IRAK1	ORPHA:93552
HP:0025343	Lupus anticoagulant	4067	LYN	OMIM:620376
HP:0025345	Abnormality of circulating beta-2-microglobulin level	5994	RFXAP	ORPHA:572
HP:0025345	Abnormality of circulating beta-2-microglobulin level	4261	CIITA	ORPHA:572
HP:0025345	Abnormality of circulating beta-2-microglobulin level	5993	RFX5	ORPHA:572
HP:0025345	Abnormality of circulating beta-2-microglobulin level	8625	RFXANK	ORPHA:572
HP:0025345	Abnormality of circulating beta-2-microglobulin level	567	B2M	OMIM:241600
HP:0025347	Decreased circulating beta-2-microglobulin level	5994	RFXAP	ORPHA:572
HP:0025347	Decreased circulating beta-2-microglobulin level	4261	CIITA	ORPHA:572
HP:0025347	Decreased circulating beta-2-microglobulin level	5993	RFX5	ORPHA:572
HP:0025347	Decreased circulating beta-2-microglobulin level	8625	RFXANK	ORPHA:572
HP:0025347	Decreased circulating beta-2-microglobulin level	567	B2M	OMIM:241600
HP:0025348	Abnormal corneal limbus morphology	5080	PAX6	ORPHA:2334
HP:0025348	Abnormal corneal limbus morphology	5308	PITX2	OMIM:180550
HP:0025348	Abnormal corneal limbus morphology	710	SERPING1	ORPHA:100050
HP:0025349	Limbal edema	710	SERPING1	ORPHA:100050
HP:0030644	Blind-spot enlargement	84816	RTN4IP1	OMIM:616732
HP:0030644	Blind-spot enlargement	3105	HLA-A	ORPHA:179
HP:0030644	Blind-spot enlargement	7466	WFS1	OMIM:614296
HP:0030642	Fundus albipunctatus	5959	RDH5	OMIM:136880
HP:0030642	Fundus albipunctatus	6010	RHO	OMIM:136880
HP:0030642	Fundus albipunctatus	6017	RLBP1	OMIM:136880
HP:0030642	Fundus albipunctatus	5961	PRPH2	OMIM:136880
HP:0000653	Sparse eyelashes	147495	APCDD1	OMIM:605389
HP:0000653	Sparse eyelashes	147495	APCDD1	ORPHA:55654
HP:0000653	Sparse eyelashes	60529	ALX4	OMIM:613451
HP:0000653	Sparse eyelashes	81607	NECTIN4	OMIM:613573
HP:0000653	Sparse eyelashes	100151683	RNU4ATAC	OMIM:210710
HP:0000653	Sparse eyelashes	8092	ALX1	OMIM:613456
HP:0000653	Sparse eyelashes	8092	ALX1	ORPHA:306542
HP:0000653	Sparse eyelashes	57539	WDR35	OMIM:613610
HP:0000653	Sparse eyelashes	128178	EDARADD	OMIM:614941
HP:0000653	Sparse eyelashes	128178	EDARADD	OMIM:129490
HP:0000653	Sparse eyelashes	128178	EDARADD	OMIM:224900
HP:0000653	Sparse eyelashes	1736	DKC1	OMIM:305000
HP:0000653	Sparse eyelashes	8626	TP63	OMIM:604292
HP:0000653	Sparse eyelashes	8626	TP63	OMIM:106260
HP:0000653	Sparse eyelashes	8626	TP63	OMIM:129400
HP:0000653	Sparse eyelashes	9401	RECQL4	OMIM:268400
HP:0000653	Sparse eyelashes	9401	RECQL4	OMIM:266280
HP:0000653	Sparse eyelashes	2706	GJB2	OMIM:602540
HP:0000653	Sparse eyelashes	2706	GJB2	ORPHA:477
HP:0000653	Sparse eyelashes	2706	GJB2	OMIM:148210
HP:0000653	Sparse eyelashes	51360	MBTPS2	OMIM:308800
HP:0000653	Sparse eyelashes	267010	RNU12	OMIM:603116
HP:0000653	Sparse eyelashes	1825	DSC3	OMIM:613102
HP:0000653	Sparse eyelashes	4953	ODC1	ORPHA:544488
HP:0000653	Sparse eyelashes	4953	ODC1	OMIM:619075
HP:0000653	Sparse eyelashes	9076	CLDN1	ORPHA:59303
HP:0000653	Sparse eyelashes	9076	CLDN1	OMIM:607626
HP:0000653	Sparse eyelashes	7298	TYMS	OMIM:620040
HP:0000653	Sparse eyelashes	6595	SMARCA2	OMIM:619293
HP:0000653	Sparse eyelashes	83999	KREMEN1	OMIM:617392
HP:0000653	Sparse eyelashes	1896	EDA	OMIM:305100
HP:0000653	Sparse eyelashes	9698	PUM1	OMIM:620719
HP:0000653	Sparse eyelashes	10265	IRX5	OMIM:611174
HP:0000653	Sparse eyelashes	112802	KRT71	OMIM:615896
HP:0000653	Sparse eyelashes	1801	DPH1	OMIM:616901
HP:0000653	Sparse eyelashes	22845	DOLK	OMIM:610768
HP:0000653	Sparse eyelashes	10804	GJB6	OMIM:129500
HP:0000653	Sparse eyelashes	10804	GJB6	ORPHA:477
HP:0000653	Sparse eyelashes	10804	GJB6	ORPHA:189
HP:0000653	Sparse eyelashes	6768	ST14	OMIM:602400
HP:0000653	Sparse eyelashes	1301	COL11A1	ORPHA:560
HP:0000653	Sparse eyelashes	9896	FIG4	ORPHA:3472
HP:0000653	Sparse eyelashes	9896	FIG4	OMIM:216340
HP:0000653	Sparse eyelashes	55697	VAC14	ORPHA:3472
HP:0000653	Sparse eyelashes	10682	EBP	ORPHA:35173
HP:0000653	Sparse eyelashes	10682	EBP	OMIM:302960
HP:0000653	Sparse eyelashes	1474	CST6	OMIM:618535
HP:0000653	Sparse eyelashes	374393	FAM111B	OMIM:615704
HP:0000653	Sparse eyelashes	2697	GJA1	OMIM:257850
HP:0000653	Sparse eyelashes	2697	GJA1	ORPHA:1010
HP:0000653	Sparse eyelashes	54345	SOX18	OMIM:137940
HP:0000653	Sparse eyelashes	11285	B4GALT7	ORPHA:75496
HP:0000653	Sparse eyelashes	200879	LIPH	OMIM:604379
HP:0000653	Sparse eyelashes	200879	LIPH	ORPHA:55654
HP:0000653	Sparse eyelashes	147183	KRT25	OMIM:616760
HP:0000653	Sparse eyelashes	55505	NOP10	OMIM:224230
HP:0000653	Sparse eyelashes	55651	NHP2	OMIM:224230
HP:0000653	Sparse eyelashes	1001	CDH3	OMIM:225280
HP:0000653	Sparse eyelashes	6023	RMRP	OMIM:250250
HP:0000653	Sparse eyelashes	117581	TWIST2	OMIM:209885
HP:0000653	Sparse eyelashes	1909	EDNRA	OMIM:616367
HP:0000653	Sparse eyelashes	79574	EPS8L3	OMIM:612841
HP:0000653	Sparse eyelashes	10283	CWC27	OMIM:250410
HP:0000653	Sparse eyelashes	11128	POLR3A	OMIM:264090
HP:0000653	Sparse eyelashes	3675	ITGA3	OMIM:614748
HP:0000653	Sparse eyelashes	10913	EDAR	OMIM:129490
HP:0000653	Sparse eyelashes	10913	EDAR	OMIM:224900
HP:0000653	Sparse eyelashes	4047	LSS	ORPHA:55654
HP:0000653	Sparse eyelashes	6144	RPL21	ORPHA:55654
HP:0000653	Sparse eyelashes	147409	DSG4	ORPHA:55654
HP:0000653	Sparse eyelashes	147409	DSG4	OMIM:607903
HP:0000653	Sparse eyelashes	6635	SNRPE	ORPHA:55654
HP:0000653	Sparse eyelashes	10161	LPAR6	ORPHA:55654
HP:0000653	Sparse eyelashes	10161	LPAR6	OMIM:278150
HP:0000653	Sparse eyelashes	51611	DPH5	OMIM:620070
HP:0000653	Sparse eyelashes	136647	MPLKIP	OMIM:234050
HP:0000653	Sparse eyelashes	5605	MAP2K2	OMIM:615280
HP:0000653	Sparse eyelashes	25959	KANK2	OMIM:616099
HP:0000653	Sparse eyelashes	54676	GTPBP2	OMIM:617988
HP:0000653	Sparse eyelashes	84946	LTV1	OMIM:620199
HP:0000653	Sparse eyelashes	4763	NF1	ORPHA:139474
HP:0000653	Sparse eyelashes	1748	DLX4	OMIM:616788
HP:0000653	Sparse eyelashes	5818	NECTIN1	OMIM:225060
HP:0000653	Sparse eyelashes	84168	ANTXR1	OMIM:230740
HP:0000653	Sparse eyelashes	84168	ANTXR1	ORPHA:2067
HP:0000653	Sparse eyelashes	8815	BANF1	OMIM:614008
HP:0000653	Sparse eyelashes	10269	ZMPSTE24	OMIM:275210
HP:0000653	Sparse eyelashes	121391	KRT74	OMIM:614929
HP:0000653	Sparse eyelashes	641	BLM	ORPHA:125
HP:0000653	Sparse eyelashes	1832	DSP	OMIM:605676
HP:0000653	Sparse eyelashes	90121	TSR2	OMIM:300946
HP:0000653	Sparse eyelashes	120766137	HRURF	OMIM:146550
HP:0000653	Sparse eyelashes	84181	CHD6	ORPHA:2108
HP:0000653	Sparse eyelashes	7227	TRPS1	ORPHA:77258
HP:0000653	Sparse eyelashes	11005	SPINK5	ORPHA:634
HP:0000653	Sparse eyelashes	10262	SF3B4	ORPHA:245
HP:0000653	Sparse eyelashes	10262	SF3B4	OMIM:154400
HP:0000653	Sparse eyelashes	6949	TCOF1	OMIM:154500
HP:0002215	Sparse axillary hair	147495	APCDD1	OMIM:605389
HP:0002215	Sparse axillary hair	8313	AXIN2	OMIM:608615
HP:0002215	Sparse axillary hair	200879	LIPH	OMIM:604379
HP:0002215	Sparse axillary hair	9508	ADAMTS3	ORPHA:2136
HP:0002215	Sparse axillary hair	147372	CCBE1	ORPHA:2136
HP:0002215	Sparse axillary hair	79633	FAT4	ORPHA:2136
HP:0002215	Sparse axillary hair	3122	HLA-DRA	ORPHA:505
HP:0002215	Sparse axillary hair	8626	TP63	OMIM:604292
HP:0002215	Sparse axillary hair	8626	TP63	OMIM:103285
HP:0002215	Sparse axillary hair	10804	GJB6	ORPHA:189
HP:0002215	Sparse axillary hair	284252	KCTD1	OMIM:181270
HP:0002215	Sparse axillary hair	367	AR	OMIM:300068
HP:0002215	Sparse axillary hair	367	AR	ORPHA:99429
HP:0002215	Sparse axillary hair	6926	TBX3	OMIM:181450
HP:0002215	Sparse axillary hair	2488	FSHB	ORPHA:52901
HP:0002215	Sparse axillary hair	3972	LHB	OMIM:228300
HP:0002215	Sparse axillary hair	1528	CYB5A	ORPHA:90796
HP:0002215	Sparse axillary hair	1586	CYP17A1	ORPHA:90796
HP:0002215	Sparse axillary hair	6144	RPL21	OMIM:615885
HP:0002215	Sparse axillary hair	285025	CCDC141	OMIM:146110
HP:0002215	Sparse axillary hair	9723	SEMA3E	OMIM:146110
HP:0002215	Sparse axillary hair	10011	SRA1	OMIM:146110
HP:0002215	Sparse axillary hair	2796	GNRH1	OMIM:146110
HP:0002215	Sparse axillary hair	81848	SPRY4	OMIM:146110
HP:0002215	Sparse axillary hair	389549	FEZF1	OMIM:146110
HP:0002215	Sparse axillary hair	55717	WDR11	OMIM:146110
HP:0002215	Sparse axillary hair	8822	FGF17	OMIM:146110
HP:0002215	Sparse axillary hair	558	AXL	OMIM:146110
HP:0002215	Sparse axillary hair	1848	DUSP6	OMIM:146110
HP:0002215	Sparse axillary hair	2798	GNRHR	OMIM:146110
HP:0002215	Sparse axillary hair	1825	DSC3	OMIM:613102
HP:0002215	Sparse axillary hair	4214	MAP3K1	OMIM:613762
HP:0002215	Sparse axillary hair	4214	MAP3K1	ORPHA:251510
HP:0002215	Sparse axillary hair	10161	LPAR6	OMIM:278150
HP:0002215	Sparse axillary hair	6662	SOX9	ORPHA:251510
HP:0002215	Sparse axillary hair	6845	VAMP7	ORPHA:251510
HP:0002215	Sparse axillary hair	51741	WWOX	ORPHA:251510
HP:0002215	Sparse axillary hair	2516	NR5A1	ORPHA:251510
HP:0002215	Sparse axillary hair	7490	WT1	ORPHA:251510
HP:0002215	Sparse axillary hair	57647	DHX37	ORPHA:251510
HP:0002215	Sparse axillary hair	6736	SRY	ORPHA:251510
HP:0002215	Sparse axillary hair	23414	ZFPM2	ORPHA:251510
HP:0002215	Sparse axillary hair	190	NR0B1	ORPHA:251510
HP:0002215	Sparse axillary hair	2626	GATA4	ORPHA:251510
HP:0002215	Sparse axillary hair	5696	PSMB8	OMIM:256040
HP:0002215	Sparse axillary hair	23594	ORC6	OMIM:613803
HP:0002215	Sparse axillary hair	1308	COL17A1	ORPHA:251393
HP:0002215	Sparse axillary hair	3691	ITGB4	ORPHA:251393
HP:0000561	Absent eyelashes	54345	SOX18	OMIM:137940
HP:0000561	Absent eyelashes	54345	SOX18	OMIM:607823
HP:0000561	Absent eyelashes	54345	SOX18	ORPHA:69735
HP:0000561	Absent eyelashes	8626	TP63	OMIM:106260
HP:0000561	Absent eyelashes	5317	PKP1	OMIM:604536
HP:0000561	Absent eyelashes	1896	EDA	OMIM:305100
HP:0000561	Absent eyelashes	1832	DSP	ORPHA:158687
HP:0000561	Absent eyelashes	3728	JUP	ORPHA:158687
HP:0000561	Absent eyelashes	6949	TCOF1	OMIM:154500
HP:0000561	Absent eyelashes	6949	TCOF1	ORPHA:861
HP:0000561	Absent eyelashes	4035	LRP1	OMIM:604093
HP:0000561	Absent eyelashes	673	BRAF	OMIM:115150
HP:0000561	Absent eyelashes	128178	EDARADD	OMIM:614941
HP:0000561	Absent eyelashes	64682	ANAPC1	OMIM:618625
HP:0000561	Absent eyelashes	10283	CWC27	OMIM:250410
HP:0000561	Absent eyelashes	10283	CWC27	ORPHA:166035
HP:0000561	Absent eyelashes	11128	POLR3A	OMIM:264090
HP:0000561	Absent eyelashes	10269	ZMPSTE24	OMIM:275210
HP:0000561	Absent eyelashes	80144	FRAS1	OMIM:219000
HP:0000561	Absent eyelashes	3891	KRT85	OMIM:602032
HP:0000561	Absent eyelashes	55806	HR	ORPHA:701
HP:0000561	Absent eyelashes	55806	HR	OMIM:203655
HP:0000561	Absent eyelashes	117581	TWIST2	ORPHA:920
HP:0000561	Absent eyelashes	117581	TWIST2	OMIM:200110
HP:0000561	Absent eyelashes	9401	RECQL4	OMIM:268400
HP:0000561	Absent eyelashes	2255	FGF10	OMIM:620193
HP:0000561	Absent eyelashes	2706	GJB2	OMIM:602540
HP:0000561	Absent eyelashes	84172	POLR1B	ORPHA:861
HP:0000561	Absent eyelashes	9533	POLR1C	ORPHA:861
HP:0000561	Absent eyelashes	51082	POLR1D	ORPHA:861
HP:0000561	Absent eyelashes	51360	MBTPS2	OMIM:308205
HP:0000561	Absent eyelashes	54101	RIPK4	OMIM:263650
HP:0000561	Absent eyelashes	4000	LMNA	ORPHA:363618
HP:0000561	Absent eyelashes	4000	LMNA	ORPHA:90153
HP:0000561	Absent eyelashes	267010	RNU12	ORPHA:85199
HP:0000561	Absent eyelashes	4953	ODC1	ORPHA:544488
HP:0000561	Absent eyelashes	3229	HOXC13	OMIM:614931
HP:0000561	Absent eyelashes	26227	PHGDH	OMIM:256520
HP:0000561	Absent eyelashes	5965	RECQL	OMIM:620370
HP:0000561	Absent eyelashes	10262	SF3B4	OMIM:154400
HP:0004528	Generalized hypotrichosis	10804	GJB6	ORPHA:189
HP:0004528	Generalized hypotrichosis	1041	CDSN	ORPHA:90368
HP:0004528	Generalized hypotrichosis	121391	KRT74	ORPHA:90368
HP:0004528	Generalized hypotrichosis	2697	GJA1	ORPHA:1010
HP:0000431	Wide nasal bridge	11253	MAN1B1	ORPHA:397941
HP:0000431	Wide nasal bridge	11253	MAN1B1	OMIM:614202
HP:0000431	Wide nasal bridge	26235	FBXL4	OMIM:615471
HP:0000431	Wide nasal bridge	8367	H4C5	OMIM:619950
HP:0000431	Wide nasal bridge	2697	GJA1	ORPHA:1522
HP:0000431	Wide nasal bridge	2697	GJA1	OMIM:218400
HP:0000431	Wide nasal bridge	56172	ANKH	ORPHA:1522
HP:0000431	Wide nasal bridge	56172	ANKH	OMIM:123000
HP:0000431	Wide nasal bridge	8425	LTBP4	OMIM:613177
HP:0000431	Wide nasal bridge	1947	EFNB1	ORPHA:1520
HP:0000431	Wide nasal bridge	1947	EFNB1	OMIM:304110
HP:0000431	Wide nasal bridge	3703	STT3A	OMIM:619714
HP:0000431	Wide nasal bridge	64220	STRA6	OMIM:601186
HP:0000431	Wide nasal bridge	55209	SETD5	ORPHA:404440
HP:0000431	Wide nasal bridge	55209	SETD5	OMIM:615761
HP:0000431	Wide nasal bridge	3190	HNRNPK	ORPHA:453504
HP:0000431	Wide nasal bridge	3190	HNRNPK	ORPHA:352665
HP:0000431	Wide nasal bridge	2737	GLI3	ORPHA:380
HP:0000431	Wide nasal bridge	2737	GLI3	OMIM:175700
HP:0000431	Wide nasal bridge	80816	ASXL3	OMIM:615485
HP:0000431	Wide nasal bridge	1855	DVL1	OMIM:616331
HP:0000431	Wide nasal bridge	1855	DVL1	OMIM:180700
HP:0000431	Wide nasal bridge	1855	DVL1	ORPHA:3107
HP:0000431	Wide nasal bridge	2317	FLNB	OMIM:112310
HP:0000431	Wide nasal bridge	5830	PEX5	OMIM:202370
HP:0000431	Wide nasal bridge	5830	PEX5	ORPHA:44
HP:0000431	Wide nasal bridge	5830	PEX5	ORPHA:912
HP:0000431	Wide nasal bridge	51111	KMT5B	OMIM:617788
HP:0000431	Wide nasal bridge	79639	TMEM53	OMIM:619727
HP:0000431	Wide nasal bridge	65082	VPS33A	OMIM:617303
HP:0000431	Wide nasal bridge	318	NUDT2	OMIM:619844
HP:0000431	Wide nasal bridge	10084	PQBP1	ORPHA:93946
HP:0000431	Wide nasal bridge	10084	PQBP1	OMIM:309500
HP:0000431	Wide nasal bridge	129563	DIS3L2	ORPHA:2849
HP:0000431	Wide nasal bridge	129563	DIS3L2	OMIM:267000
HP:0000431	Wide nasal bridge	23384	SPECC1L	ORPHA:1519
HP:0000431	Wide nasal bridge	23384	SPECC1L	OMIM:145420
HP:0000431	Wide nasal bridge	3764	KCNJ8	ORPHA:1517
HP:0000431	Wide nasal bridge	10060	ABCC9	ORPHA:1517
HP:0000431	Wide nasal bridge	10060	ABCC9	OMIM:239850
HP:0000431	Wide nasal bridge	57231	SNX14	ORPHA:397709
HP:0000431	Wide nasal bridge	50964	SOST	ORPHA:1513
HP:0000431	Wide nasal bridge	50964	SOST	OMIM:122860
HP:0000431	Wide nasal bridge	50964	SOST	OMIM:269500
HP:0000431	Wide nasal bridge	121340	SP7	ORPHA:1513
HP:0000431	Wide nasal bridge	55650	PIGV	OMIM:239300
HP:0000431	Wide nasal bridge	55650	PIGV	ORPHA:247262
HP:0000431	Wide nasal bridge	6023	RMRP	ORPHA:175
HP:0000431	Wide nasal bridge	83696	TRAPPC9	OMIM:613192
HP:0000431	Wide nasal bridge	83696	TRAPPC9	ORPHA:352530
HP:0000431	Wide nasal bridge	284058	KANSL1	ORPHA:363958
HP:0000431	Wide nasal bridge	284058	KANSL1	ORPHA:363965
HP:0000431	Wide nasal bridge	54453	RIN2	OMIM:613075
HP:0000431	Wide nasal bridge	9698	PUM1	OMIM:620719
HP:0000431	Wide nasal bridge	9698	PUM1	OMIM:617931
HP:0000431	Wide nasal bridge	83871	RAB34	OMIM:620718
HP:0000431	Wide nasal bridge	3423	IDS	ORPHA:217085
HP:0000431	Wide nasal bridge	3423	IDS	ORPHA:217093
HP:0000431	Wide nasal bridge	64359	NXN	OMIM:618529
HP:0000431	Wide nasal bridge	64359	NXN	ORPHA:1507
HP:0000431	Wide nasal bridge	51319	RSRC1	OMIM:618402
HP:0000431	Wide nasal bridge	4920	ROR2	ORPHA:1507
HP:0000431	Wide nasal bridge	4920	ROR2	OMIM:268310
HP:0000431	Wide nasal bridge	3339	HSPG2	ORPHA:1865
HP:0000431	Wide nasal bridge	3339	HSPG2	ORPHA:1606
HP:0000431	Wide nasal bridge	3339	HSPG2	OMIM:224410
HP:0000431	Wide nasal bridge	2626	GATA4	ORPHA:251071
HP:0000431	Wide nasal bridge	171023	ASXL1	ORPHA:97297
HP:0000431	Wide nasal bridge	171023	ASXL1	OMIM:605039
HP:0000431	Wide nasal bridge	10484	SEC23A	OMIM:607812
HP:0000431	Wide nasal bridge	8726	EED	OMIM:617561
HP:0000431	Wide nasal bridge	10815	CPLX1	ORPHA:280
HP:0000431	Wide nasal bridge	10815	CPLX1	OMIM:194190
HP:0000431	Wide nasal bridge	54872	PIGG	ORPHA:280
HP:0000431	Wide nasal bridge	7469	NELFA	ORPHA:280
HP:0000431	Wide nasal bridge	1487	CTBP1	ORPHA:280
HP:0000431	Wide nasal bridge	1487	CTBP1	OMIM:194190
HP:0000431	Wide nasal bridge	3954	LETM1	ORPHA:280
HP:0000431	Wide nasal bridge	3954	LETM1	OMIM:194190
HP:0000431	Wide nasal bridge	7468	NSD2	ORPHA:280
HP:0000431	Wide nasal bridge	7468	NSD2	OMIM:619695
HP:0000431	Wide nasal bridge	7468	NSD2	OMIM:194190
HP:0000431	Wide nasal bridge	5159	PDGFRB	OMIM:616592
HP:0000431	Wide nasal bridge	54968	TMEM70	OMIM:614052
HP:0000431	Wide nasal bridge	1501	CTNND2	ORPHA:281
HP:0000431	Wide nasal bridge	9037	SEMA5A	ORPHA:281
HP:0000431	Wide nasal bridge	4297	KMT2A	ORPHA:319182
HP:0000431	Wide nasal bridge	4297	KMT2A	OMIM:605130
HP:0000431	Wide nasal bridge	57178	ZMIZ1	OMIM:618659
HP:0000431	Wide nasal bridge	5813	PURA	ORPHA:438216
HP:0000431	Wide nasal bridge	5813	PURA	OMIM:616158
HP:0000431	Wide nasal bridge	93627	TBCK	ORPHA:488632
HP:0000431	Wide nasal bridge	93627	TBCK	OMIM:616900
HP:0000431	Wide nasal bridge	3782	KCNN3	OMIM:618658
HP:0000431	Wide nasal bridge	8642	DCHS1	OMIM:601390
HP:0000431	Wide nasal bridge	8642	DCHS1	ORPHA:314679
HP:0000431	Wide nasal bridge	26834	RNU4-2	OMIM:620851
HP:0000431	Wide nasal bridge	2316	FLNA	ORPHA:90650
HP:0000431	Wide nasal bridge	2316	FLNA	ORPHA:1826
HP:0000431	Wide nasal bridge	2316	FLNA	OMIM:311300
HP:0000431	Wide nasal bridge	2316	FLNA	OMIM:305620
HP:0000431	Wide nasal bridge	8241	RBM10	OMIM:311900
HP:0000431	Wide nasal bridge	8241	RBM10	ORPHA:2886
HP:0000431	Wide nasal bridge	54345	SOX18	OMIM:137940
HP:0000431	Wide nasal bridge	57167	SALL4	ORPHA:233
HP:0000431	Wide nasal bridge	9935	MAFB	ORPHA:233
HP:0000431	Wide nasal bridge	9935	MAFB	ORPHA:2774
HP:0000431	Wide nasal bridge	1123	CHN1	ORPHA:233
HP:0000431	Wide nasal bridge	11285	B4GALT7	OMIM:130070
HP:0000431	Wide nasal bridge	11285	B4GALT7	ORPHA:75496
HP:0000431	Wide nasal bridge	56006	SMG9	OMIM:619995
HP:0000431	Wide nasal bridge	56006	SMG9	OMIM:616920
HP:0000431	Wide nasal bridge	55621	TRMT1	OMIM:618302
HP:0000431	Wide nasal bridge	85301	COL27A1	OMIM:615155
HP:0000431	Wide nasal bridge	10717	AP4B1	OMIM:614066
HP:0000431	Wide nasal bridge	11154	AP4S1	OMIM:614067
HP:0000431	Wide nasal bridge	7862	BRPF1	OMIM:617333
HP:0000431	Wide nasal bridge	57680	CHD8	OMIM:615032
HP:0000431	Wide nasal bridge	57680	CHD8	ORPHA:261229
HP:0000431	Wide nasal bridge	8558	CDK10	OMIM:617694
HP:0000431	Wide nasal bridge	51633	OTUD6B	OMIM:617452
HP:0000431	Wide nasal bridge	4613	MYCN	OMIM:620748
HP:0000431	Wide nasal bridge	4613	MYCN	OMIM:164280
HP:0000431	Wide nasal bridge	1660	DHX9	OMIM:620988
HP:0000431	Wide nasal bridge	57282	SLC4A10	OMIM:620746
HP:0000431	Wide nasal bridge	1909	EDNRA	OMIM:616367
HP:0000431	Wide nasal bridge	2550	GABBR1	OMIM:620502
HP:0000431	Wide nasal bridge	5593	PRKG2	OMIM:619636
HP:0000431	Wide nasal bridge	150468	CKAP2L	OMIM:272440
HP:0000431	Wide nasal bridge	150468	CKAP2L	ORPHA:3255
HP:0000431	Wide nasal bridge	5590	PRKCZ	ORPHA:1606
HP:0000431	Wide nasal bridge	2563	GABRD	ORPHA:1606
HP:0000431	Wide nasal bridge	23013	SPEN	ORPHA:1606
HP:0000431	Wide nasal bridge	23013	SPEN	OMIM:619312
HP:0000431	Wide nasal bridge	8510	MMP23B	ORPHA:1606
HP:0000431	Wide nasal bridge	7798	LUZP1	ORPHA:1606
HP:0000431	Wide nasal bridge	6497	SKI	ORPHA:1606
HP:0000431	Wide nasal bridge	10630	PDPN	ORPHA:1606
HP:0000431	Wide nasal bridge	10277	UBE4B	ORPHA:1606
HP:0000431	Wide nasal bridge	8514	KCNAB2	ORPHA:1606
HP:0000431	Wide nasal bridge	473	RERE	ORPHA:1606
HP:0000431	Wide nasal bridge	63976	PRDM16	ORPHA:1606
HP:0000431	Wide nasal bridge	54897	CASZ1	ORPHA:1606
HP:0000431	Wide nasal bridge	85365	ALG2	ORPHA:79326
HP:0000431	Wide nasal bridge	85365	ALG2	OMIM:607906
HP:0000431	Wide nasal bridge	5727	PTCH1	OMIM:610828
HP:0000431	Wide nasal bridge	5727	PTCH1	ORPHA:377
HP:0000431	Wide nasal bridge	5727	PTCH1	OMIM:109400
HP:0000431	Wide nasal bridge	26137	ZBTB20	OMIM:259050
HP:0000431	Wide nasal bridge	54828	BCAS3	OMIM:619641
HP:0000431	Wide nasal bridge	4286	MITF	OMIM:193510
HP:0000431	Wide nasal bridge	4286	MITF	ORPHA:897
HP:0000431	Wide nasal bridge	7750	ZMYM2	OMIM:619522
HP:0000431	Wide nasal bridge	54928	BPNT2	OMIM:614078
HP:0000431	Wide nasal bridge	51098	IFT52	OMIM:617102
HP:0000431	Wide nasal bridge	9928	KIF14	OMIM:616258
HP:0000431	Wide nasal bridge	9772	TMEM94	OMIM:618316
HP:0000431	Wide nasal bridge	25973	PARS2	OMIM:618437
HP:0000431	Wide nasal bridge	79971	WLS	OMIM:619648
HP:0000431	Wide nasal bridge	79633	FAT4	ORPHA:314679
HP:0000431	Wide nasal bridge	79633	FAT4	ORPHA:2136
HP:0000431	Wide nasal bridge	79633	FAT4	OMIM:615546
HP:0000431	Wide nasal bridge	57492	ARID1B	ORPHA:251056
HP:0000431	Wide nasal bridge	6925	TCF4	OMIM:610954
HP:0000431	Wide nasal bridge	2683	B4GALT1	ORPHA:79332
HP:0000431	Wide nasal bridge	57688	ZSWIM6	OMIM:603671
HP:0000431	Wide nasal bridge	8643	PTCH2	ORPHA:377
HP:0000431	Wide nasal bridge	51684	SUFU	ORPHA:377
HP:0000431	Wide nasal bridge	2239	GPC4	ORPHA:373
HP:0000431	Wide nasal bridge	2239	GPC4	OMIM:312870
HP:0000431	Wide nasal bridge	2719	GPC3	ORPHA:373
HP:0000431	Wide nasal bridge	2719	GPC3	OMIM:312870
HP:0000431	Wide nasal bridge	55120	FANCL	OMIM:614083
HP:0000431	Wide nasal bridge	5077	PAX3	OMIM:193500
HP:0000431	Wide nasal bridge	5077	PAX3	OMIM:148820
HP:0000431	Wide nasal bridge	5077	PAX3	ORPHA:894
HP:0000431	Wide nasal bridge	284098	PIGW	OMIM:616025
HP:0000431	Wide nasal bridge	284098	PIGW	ORPHA:247262
HP:0000431	Wide nasal bridge	259232	NALCN	OMIM:616266
HP:0000431	Wide nasal bridge	259232	NALCN	ORPHA:2053
HP:0000431	Wide nasal bridge	259232	NALCN	ORPHA:562528
HP:0000431	Wide nasal bridge	259232	NALCN	ORPHA:1147
HP:0000431	Wide nasal bridge	259232	NALCN	ORPHA:371364
HP:0000431	Wide nasal bridge	5286	PIK3C2A	OMIM:618440
HP:0000431	Wide nasal bridge	5286	PIK3C2A	ORPHA:557003
HP:0000431	Wide nasal bridge	8565	YARS1	OMIM:619418
HP:0000431	Wide nasal bridge	1107	CHD3	OMIM:618205
HP:0000431	Wide nasal bridge	374969	SVBP	OMIM:618569
HP:0000431	Wide nasal bridge	6261	RYR1	ORPHA:324581
HP:0000431	Wide nasal bridge	7476	WNT7A	OMIM:276820
HP:0000431	Wide nasal bridge	4733	DRG1	OMIM:620641
HP:0000431	Wide nasal bridge	6885	MAP3K7	ORPHA:1826
HP:0000431	Wide nasal bridge	6885	MAP3K7	OMIM:617137
HP:0000431	Wide nasal bridge	6885	MAP3K7	OMIM:157800
HP:0000431	Wide nasal bridge	51322	WAC	ORPHA:466950
HP:0000431	Wide nasal bridge	6513	SLC2A1	ORPHA:1942
HP:0000431	Wide nasal bridge	8831	SYNGAP1	ORPHA:1942
HP:0000431	Wide nasal bridge	1173	AP2M1	ORPHA:1942
HP:0000431	Wide nasal bridge	6323	SCN1A	ORPHA:1942
HP:0000431	Wide nasal bridge	340533	NEXMIF	ORPHA:1942
HP:0000431	Wide nasal bridge	1106	CHD2	ORPHA:1942
HP:0000431	Wide nasal bridge	6529	SLC6A1	ORPHA:1942
HP:0000431	Wide nasal bridge	10195	ALG3	OMIM:601110
HP:0000431	Wide nasal bridge	257	ALX3	OMIM:136760
HP:0000431	Wide nasal bridge	6138	RPL15	ORPHA:124
HP:0000431	Wide nasal bridge	6224	RPS20	ORPHA:124
HP:0000431	Wide nasal bridge	6165	RPL35A	ORPHA:124
HP:0000431	Wide nasal bridge	6132	RPL8	ORPHA:124
HP:0000431	Wide nasal bridge	6223	RPS19	ORPHA:124
HP:0000431	Wide nasal bridge	6232	RPS27	ORPHA:124
HP:0000431	Wide nasal bridge	55027	HEATR3	ORPHA:124
HP:0000431	Wide nasal bridge	6160	RPL31	ORPHA:124
HP:0000431	Wide nasal bridge	6201	RPS7	ORPHA:124
HP:0000431	Wide nasal bridge	6201	RPS7	OMIM:612563
HP:0000431	Wide nasal bridge	6155	RPL27	ORPHA:124
HP:0000431	Wide nasal bridge	6234	RPS28	ORPHA:124
HP:0000431	Wide nasal bridge	6135	RPL11	ORPHA:124
HP:0000431	Wide nasal bridge	6229	RPS24	ORPHA:124
HP:0000431	Wide nasal bridge	6125	RPL5	ORPHA:124
HP:0000431	Wide nasal bridge	6204	RPS10	ORPHA:124
HP:0000431	Wide nasal bridge	2623	GATA1	ORPHA:124
HP:0000431	Wide nasal bridge	6133	RPL9	ORPHA:124
HP:0000431	Wide nasal bridge	6231	RPS26	ORPHA:124
HP:0000431	Wide nasal bridge	11224	RPL35	ORPHA:124
HP:0000431	Wide nasal bridge	6218	RPS17	ORPHA:124
HP:0000431	Wide nasal bridge	6154	RPL26	ORPHA:124
HP:0000431	Wide nasal bridge	6210	RPS15A	ORPHA:124
HP:0000431	Wide nasal bridge	90121	TSR2	ORPHA:124
HP:0000431	Wide nasal bridge	6141	RPL18	ORPHA:124
HP:0000431	Wide nasal bridge	6235	RPS29	ORPHA:124
HP:0000431	Wide nasal bridge	51816	ADA2	ORPHA:124
HP:0000431	Wide nasal bridge	6473	SHOX	ORPHA:240
HP:0000431	Wide nasal bridge	117581	TWIST2	ORPHA:1807
HP:0000431	Wide nasal bridge	117581	TWIST2	ORPHA:1231
HP:0000431	Wide nasal bridge	3845	KRAS	OMIM:600268
HP:0000431	Wide nasal bridge	54903	MKS1	OMIM:617121
HP:0000431	Wide nasal bridge	8295	TRRAP	OMIM:618454
HP:0000431	Wide nasal bridge	9742	IFT140	OMIM:266920
HP:0000431	Wide nasal bridge	8621	CDK13	OMIM:617360
HP:0000431	Wide nasal bridge	5881	RAC3	OMIM:618577
HP:0000431	Wide nasal bridge	26173	INTS1	OMIM:618571
HP:0000431	Wide nasal bridge	9851	KIAA0753	OMIM:617127
HP:0000431	Wide nasal bridge	9851	KIAA0753	OMIM:619479
HP:0000431	Wide nasal bridge	55770	EXOC2	OMIM:619306
HP:0000431	Wide nasal bridge	27145	FILIP1	OMIM:620775
HP:0000431	Wide nasal bridge	3480	IGF1R	ORPHA:73273
HP:0000431	Wide nasal bridge	3480	IGF1R	OMIM:270450
HP:0000431	Wide nasal bridge	22827	PUF60	ORPHA:508498
HP:0000431	Wide nasal bridge	22827	PUF60	ORPHA:508488
HP:0000431	Wide nasal bridge	22827	PUF60	OMIM:615583
HP:0000431	Wide nasal bridge	9488	PIGB	OMIM:618580
HP:0000431	Wide nasal bridge	51574	LARP7	OMIM:615071
HP:0000431	Wide nasal bridge	57459	GATAD2B	OMIM:615074
HP:0000431	Wide nasal bridge	6134	RPL10	OMIM:300998
HP:0000431	Wide nasal bridge	5898	RALA	OMIM:619311
HP:0000431	Wide nasal bridge	10466	COG5	ORPHA:263487
HP:0000431	Wide nasal bridge	30000	TNPO2	OMIM:619556
HP:0000431	Wide nasal bridge	56896	DPYSL5	OMIM:619435
HP:0000431	Wide nasal bridge	56896	DPYSL5	ORPHA:7
HP:0000431	Wide nasal bridge	54517	PUS7	OMIM:618342
HP:0000431	Wide nasal bridge	8573	CASK	OMIM:300749
HP:0000431	Wide nasal bridge	8573	CASK	ORPHA:163937
HP:0000431	Wide nasal bridge	8573	CASK	OMIM:300422
HP:0000431	Wide nasal bridge	6418	SET	OMIM:618106
HP:0000431	Wide nasal bridge	253738	EBF3	ORPHA:96148
HP:0000431	Wide nasal bridge	90459	ERI1	OMIM:620662
HP:0000431	Wide nasal bridge	2200	FBN1	ORPHA:284979
HP:0000431	Wide nasal bridge	5308	PITX2	ORPHA:782
HP:0000431	Wide nasal bridge	5308	PITX2	OMIM:180500
HP:0000431	Wide nasal bridge	2296	FOXC1	ORPHA:782
HP:0000431	Wide nasal bridge	7372	UMPS	ORPHA:30
HP:0000431	Wide nasal bridge	2972	BRF1	ORPHA:444072
HP:0000431	Wide nasal bridge	650	BMP2	ORPHA:261295
HP:0000431	Wide nasal bridge	23114	NFASC	OMIM:618356
HP:0000431	Wide nasal bridge	6651	SON	OMIM:617140
HP:0000431	Wide nasal bridge	6651	SON	ORPHA:500150
HP:0000431	Wide nasal bridge	5649	RELN	ORPHA:89844
HP:0000431	Wide nasal bridge	10300	KATNB1	ORPHA:89844
HP:0000431	Wide nasal bridge	54820	NDE1	ORPHA:89844
HP:0000431	Wide nasal bridge	54820	NDE1	OMIM:614019
HP:0000431	Wide nasal bridge	10978	CLP1	ORPHA:411493
HP:0000431	Wide nasal bridge	10978	CLP1	OMIM:615803
HP:0000431	Wide nasal bridge	63895	PIEZO2	OMIM:617146
HP:0000431	Wide nasal bridge	23030	KDM4B	OMIM:619320
HP:0000431	Wide nasal bridge	157922	CAMSAP1	OMIM:620316
HP:0000431	Wide nasal bridge	26128	KIFBP	ORPHA:66629
HP:0000431	Wide nasal bridge	26128	KIFBP	OMIM:609460
HP:0000431	Wide nasal bridge	1908	EDN3	ORPHA:897
HP:0000431	Wide nasal bridge	1910	EDNRB	ORPHA:897
HP:0000431	Wide nasal bridge	6663	SOX10	ORPHA:897
HP:0000431	Wide nasal bridge	6663	SOX10	ORPHA:163746
HP:0000431	Wide nasal bridge	8626	TP63	OMIM:106260
HP:0000431	Wide nasal bridge	8626	TP63	ORPHA:978
HP:0000431	Wide nasal bridge	5934	RBL2	OMIM:619690
HP:0000431	Wide nasal bridge	83999	KREMEN1	OMIM:617392
HP:0000431	Wide nasal bridge	3039	HBA1	ORPHA:98791
HP:0000431	Wide nasal bridge	3040	HBA2	ORPHA:98791
HP:0000431	Wide nasal bridge	4621	MYH3	OMIM:193700
HP:0000431	Wide nasal bridge	4621	MYH3	ORPHA:2053
HP:0000431	Wide nasal bridge	4621	MYH3	ORPHA:1147
HP:0000431	Wide nasal bridge	51132	RLIM	OMIM:300978
HP:0000431	Wide nasal bridge	153642	ARSK	OMIM:619698
HP:0000431	Wide nasal bridge	22930	RAB3GAP1	OMIM:600118
HP:0000431	Wide nasal bridge	22930	RAB3GAP1	ORPHA:2510
HP:0000431	Wide nasal bridge	2530	FUT8	OMIM:618005
HP:0000431	Wide nasal bridge	4052	LTBP1	OMIM:619451
HP:0000431	Wide nasal bridge	54496	PRMT7	OMIM:617157
HP:0000431	Wide nasal bridge	3756	KCNH1	OMIM:135500
HP:0000431	Wide nasal bridge	3756	KCNH1	ORPHA:420561
HP:0000431	Wide nasal bridge	8260	NAA10	OMIM:300855
HP:0000431	Wide nasal bridge	10082	GPC6	OMIM:258315
HP:0000431	Wide nasal bridge	2260	FGFR1	OMIM:190440
HP:0000431	Wide nasal bridge	2260	FGFR1	ORPHA:3366
HP:0000431	Wide nasal bridge	9969	MED13	OMIM:618009
HP:0000431	Wide nasal bridge	23389	MED13L	ORPHA:369891
HP:0000431	Wide nasal bridge	1312	COMT	ORPHA:567
HP:0000431	Wide nasal bridge	221037	JMJD1C	ORPHA:567
HP:0000431	Wide nasal bridge	2812	GP1BB	ORPHA:567
HP:0000431	Wide nasal bridge	6239	RREB1	ORPHA:567
HP:0000431	Wide nasal bridge	6899	TBX1	ORPHA:567
HP:0000431	Wide nasal bridge	7290	HIRA	ORPHA:567
HP:0000431	Wide nasal bridge	9632	SEC24C	ORPHA:567
HP:0000431	Wide nasal bridge	7353	UFD1	ORPHA:567
HP:0000431	Wide nasal bridge	421	ARVCF	ORPHA:567
HP:0000431	Wide nasal bridge	7136	TNNI2	OMIM:601680
HP:0000431	Wide nasal bridge	7136	TNNI2	ORPHA:1147
HP:0000431	Wide nasal bridge	1009	CDH11	OMIM:211380
HP:0000431	Wide nasal bridge	1301	COL11A1	ORPHA:560
HP:0000431	Wide nasal bridge	9758	FRMPD4	OMIM:300983
HP:0000431	Wide nasal bridge	10297	APC2	OMIM:617169
HP:0000431	Wide nasal bridge	92949	ADAMTSL1	ORPHA:521445
HP:0000431	Wide nasal bridge	79644	SRD5A3	OMIM:612713
HP:0000431	Wide nasal bridge	1974	EIF4A2	OMIM:620455
HP:0000431	Wide nasal bridge	6874	TAF4	OMIM:620450
HP:0000431	Wide nasal bridge	64864	RFX7	OMIM:620330
HP:0000431	Wide nasal bridge	668	FOXL2	OMIM:110100
HP:0000431	Wide nasal bridge	668	FOXL2	ORPHA:572333
HP:0000431	Wide nasal bridge	5913	RAPSN	OMIM:618388
HP:0000431	Wide nasal bridge	8812	CCNK	OMIM:618147
HP:0000431	Wide nasal bridge	10847	SRCAP	OMIM:619595
HP:0000431	Wide nasal bridge	51604	PIGT	ORPHA:369837
HP:0000431	Wide nasal bridge	6711	SPTBN1	OMIM:619475
HP:0000431	Wide nasal bridge	2033	EP300	OMIM:180849
HP:0000431	Wide nasal bridge	1387	CREBBP	OMIM:180849
HP:0000431	Wide nasal bridge	79005	SCNM1	OMIM:620107
HP:0000431	Wide nasal bridge	4983	OPHN1	ORPHA:137831
HP:0000431	Wide nasal bridge	285590	SH3PXD2B	ORPHA:137834
HP:0000431	Wide nasal bridge	5781	PTPN11	ORPHA:500
HP:0000431	Wide nasal bridge	673	BRAF	ORPHA:500
HP:0000431	Wide nasal bridge	5894	RAF1	ORPHA:500
HP:0000431	Wide nasal bridge	526	ATP6V1B2	ORPHA:79500
HP:0000431	Wide nasal bridge	57465	TBC1D24	ORPHA:79500
HP:0000431	Wide nasal bridge	57465	TBC1D24	OMIM:220500
HP:0000431	Wide nasal bridge	2131	EXT1	ORPHA:502
HP:0000431	Wide nasal bridge	5885	RAD21	ORPHA:502
HP:0000431	Wide nasal bridge	5885	RAD21	OMIM:614701
HP:0000431	Wide nasal bridge	7227	TRPS1	ORPHA:502
HP:0000431	Wide nasal bridge	11198	SUPT16H	OMIM:619480
HP:0000431	Wide nasal bridge	11198	SUPT16H	ORPHA:261229
HP:0000431	Wide nasal bridge	84172	POLR1B	ORPHA:861
HP:0000431	Wide nasal bridge	9533	POLR1C	ORPHA:861
HP:0000431	Wide nasal bridge	51082	POLR1D	ORPHA:861
HP:0000431	Wide nasal bridge	6949	TCOF1	ORPHA:861
HP:0000431	Wide nasal bridge	4927	NUP88	OMIM:618393
HP:0000431	Wide nasal bridge	1457	CSNK2A1	OMIM:617062
HP:0000431	Wide nasal bridge	7204	TRIO	OMIM:617061
HP:0000431	Wide nasal bridge	2077	ERF	OMIM:617180
HP:0000431	Wide nasal bridge	2571	GAD1	OMIM:619124
HP:0000431	Wide nasal bridge	5189	PEX1	OMIM:601539
HP:0000431	Wide nasal bridge	5189	PEX1	ORPHA:44
HP:0000431	Wide nasal bridge	5189	PEX1	ORPHA:912
HP:0000431	Wide nasal bridge	8239	USP9X	OMIM:300968
HP:0000431	Wide nasal bridge	8239	USP9X	ORPHA:480880
HP:0000431	Wide nasal bridge	1654	DDX3X	OMIM:300958
HP:0000431	Wide nasal bridge	50485	SMARCAL1	OMIM:242900
HP:0000431	Wide nasal bridge	60	ACTB	OMIM:620475
HP:0000431	Wide nasal bridge	60	ACTB	OMIM:243310
HP:0000431	Wide nasal bridge	60	ACTB	ORPHA:2995
HP:0000431	Wide nasal bridge	6329	SCN4A	OMIM:620351
HP:0000431	Wide nasal bridge	6329	SCN4A	OMIM:620369
HP:0000431	Wide nasal bridge	745	MYRF	OMIM:618280
HP:0000431	Wide nasal bridge	80267	EDEM3	OMIM:619493
HP:0000431	Wide nasal bridge	5295	PIK3R1	ORPHA:3163
HP:0000431	Wide nasal bridge	5295	PIK3R1	OMIM:269880
HP:0000431	Wide nasal bridge	4256	MGP	OMIM:245150
HP:0000431	Wide nasal bridge	9487	PIGL	OMIM:280000
HP:0000431	Wide nasal bridge	9487	PIGL	ORPHA:247262
HP:0000431	Wide nasal bridge	8481	OFD1	OMIM:300804
HP:0000431	Wide nasal bridge	8481	OFD1	OMIM:311200
HP:0000431	Wide nasal bridge	8481	OFD1	ORPHA:2750
HP:0000431	Wide nasal bridge	10020	GNE	ORPHA:3166
HP:0000431	Wide nasal bridge	10020	GNE	OMIM:269921
HP:0000431	Wide nasal bridge	7474	WNT5A	OMIM:180700
HP:0000431	Wide nasal bridge	7474	WNT5A	ORPHA:3107
HP:0000431	Wide nasal bridge	9897	WASHC5	ORPHA:7
HP:0000431	Wide nasal bridge	28952	CCDC22	ORPHA:7
HP:0000431	Wide nasal bridge	57020	VPS35L	ORPHA:7
HP:0000431	Wide nasal bridge	129285	PPP1R21	OMIM:619383
HP:0000431	Wide nasal bridge	114034	TOE1	ORPHA:284339
HP:0000431	Wide nasal bridge	114034	TOE1	OMIM:614969
HP:0000431	Wide nasal bridge	9562	MINPP1	ORPHA:284339
HP:0000431	Wide nasal bridge	27161	AGO2	OMIM:619149
HP:0000431	Wide nasal bridge	9652	SKIC3	ORPHA:84064
HP:0000431	Wide nasal bridge	6499	SKIC2	ORPHA:84064
HP:0000431	Wide nasal bridge	6499	SKIC2	OMIM:614602
HP:0000431	Wide nasal bridge	9898	UBAP2L	OMIM:620494
HP:0000431	Wide nasal bridge	283450	HECTD4	OMIM:620250
HP:0000431	Wide nasal bridge	90952	ESAM	OMIM:620371
HP:0000431	Wide nasal bridge	374654	KIF7	ORPHA:166024
HP:0000431	Wide nasal bridge	374654	KIF7	OMIM:200990
HP:0000431	Wide nasal bridge	374654	KIF7	OMIM:607131
HP:0000431	Wide nasal bridge	8085	KMT2D	OMIM:147920
HP:0000431	Wide nasal bridge	8085	KMT2D	OMIM:620186
HP:0000431	Wide nasal bridge	7403	KDM6A	OMIM:147920
HP:0000431	Wide nasal bridge	5573	PRKAR1A	ORPHA:950
HP:0000431	Wide nasal bridge	5144	PDE4D	ORPHA:950
HP:0000431	Wide nasal bridge	10128	LRPPRC	OMIM:220111
HP:0000431	Wide nasal bridge	341640	FREM2	ORPHA:2052
HP:0000431	Wide nasal bridge	80144	FRAS1	ORPHA:2052
HP:0000431	Wide nasal bridge	80144	FRAS1	OMIM:219000
HP:0000431	Wide nasal bridge	23426	GRIP1	ORPHA:2052
HP:0000431	Wide nasal bridge	55503	TRPV6	OMIM:618188
HP:0000431	Wide nasal bridge	23241	PACS2	OMIM:618067
HP:0000431	Wide nasal bridge	23556	PIGN	ORPHA:2059
HP:0000431	Wide nasal bridge	57539	WDR35	OMIM:613610
HP:0000431	Wide nasal bridge	7518	XRCC4	ORPHA:99812
HP:0000431	Wide nasal bridge	3981	LIG4	ORPHA:99812
HP:0000431	Wide nasal bridge	3981	LIG4	OMIM:606593
HP:0000431	Wide nasal bridge	9839	ZEB2	OMIM:235730
HP:0000431	Wide nasal bridge	9839	ZEB2	ORPHA:261552
HP:0000431	Wide nasal bridge	9839	ZEB2	ORPHA:261537
HP:0000431	Wide nasal bridge	4281	MID1	OMIM:300000
HP:0000431	Wide nasal bridge	4281	MID1	ORPHA:2745
HP:0000431	Wide nasal bridge	8443	GNPAT	OMIM:222765
HP:0000431	Wide nasal bridge	22858	CILK1	OMIM:612651
HP:0000431	Wide nasal bridge	2314	FLII	ORPHA:819
HP:0000431	Wide nasal bridge	23096	IQSEC2	ORPHA:819
HP:0000431	Wide nasal bridge	10743	RAI1	ORPHA:819
HP:0000431	Wide nasal bridge	10743	RAI1	OMIM:182290
HP:0000431	Wide nasal bridge	10522	DEAF1	ORPHA:819
HP:0000431	Wide nasal bridge	1717	DHCR7	ORPHA:818
HP:0000431	Wide nasal bridge	1717	DHCR7	OMIM:270400
HP:0000431	Wide nasal bridge	23431	AP4E1	OMIM:613744
HP:0000431	Wide nasal bridge	5818	NECTIN1	ORPHA:3253
HP:0000431	Wide nasal bridge	29072	SETD2	OMIM:620157
HP:0000431	Wide nasal bridge	29072	SETD2	OMIM:620155
HP:0000431	Wide nasal bridge	4758	NEU1	ORPHA:812
HP:0000431	Wide nasal bridge	10225	CD96	OMIM:211750
HP:0000431	Wide nasal bridge	9382	COG1	OMIM:611209
HP:0000431	Wide nasal bridge	9382	COG1	ORPHA:263508
HP:0000431	Wide nasal bridge	7175	TPR	OMIM:620393
HP:0000431	Wide nasal bridge	6595	SMARCA2	OMIM:619293
HP:0000431	Wide nasal bridge	84992	PIGY	ORPHA:247262
HP:0000431	Wide nasal bridge	84720	PIGO	ORPHA:247262
HP:0000431	Wide nasal bridge	84720	PIGO	OMIM:614749
HP:0000431	Wide nasal bridge	93210	PGAP3	ORPHA:247262
HP:0000431	Wide nasal bridge	93210	PGAP3	OMIM:615716
HP:0000431	Wide nasal bridge	27315	PGAP2	ORPHA:247262
HP:0000431	Wide nasal bridge	27315	PGAP2	OMIM:614207
HP:0000431	Wide nasal bridge	4001	LMNB1	OMIM:619179
HP:0000431	Wide nasal bridge	170302	ARX	OMIM:300215
HP:0000431	Wide nasal bridge	80204	FBXO11	OMIM:618089
HP:0000431	Wide nasal bridge	23522	KAT6B	OMIM:606170
HP:0000431	Wide nasal bridge	92579	G6PC3	OMIM:612541
HP:0000431	Wide nasal bridge	1509	CTSD	OMIM:610127
HP:0000431	Wide nasal bridge	158326	FREM1	ORPHA:3366
HP:0000431	Wide nasal bridge	158326	FREM1	OMIM:614485
HP:0000431	Wide nasal bridge	8546	AP3B1	OMIM:608233
HP:0000431	Wide nasal bridge	6597	SMARCA4	OMIM:614609
HP:0000431	Wide nasal bridge	26523	AGO1	OMIM:620292
HP:0000431	Wide nasal bridge	23116	TOGARAM1	OMIM:619185
HP:0000431	Wide nasal bridge	860	RUNX2	OMIM:119600
HP:0000431	Wide nasal bridge	26053	AUTS2	ORPHA:352490
HP:0000431	Wide nasal bridge	26053	AUTS2	OMIM:615834
HP:0000431	Wide nasal bridge	4591	TRIM37	OMIM:253250
HP:0000431	Wide nasal bridge	4591	TRIM37	ORPHA:2576
HP:0000431	Wide nasal bridge	10352	WARS2	ORPHA:572798
HP:0000431	Wide nasal bridge	23545	ATP6V0A2	OMIM:278250
HP:0000431	Wide nasal bridge	1954	MEGF8	OMIM:614976
HP:0000431	Wide nasal bridge	7020	TFAP2A	ORPHA:1297
HP:0000431	Wide nasal bridge	2752	GLUL	OMIM:610015
HP:0000431	Wide nasal bridge	25942	SIN3A	OMIM:613406
HP:0000431	Wide nasal bridge	5193	PEX12	OMIM:614859
HP:0000431	Wide nasal bridge	5193	PEX12	ORPHA:44
HP:0000431	Wide nasal bridge	5193	PEX12	ORPHA:912
HP:0000431	Wide nasal bridge	3425	IDUA	OMIM:607014
HP:0000431	Wide nasal bridge	3425	IDUA	ORPHA:93473
HP:0000431	Wide nasal bridge	175	AGA	ORPHA:93
HP:0000431	Wide nasal bridge	53834	FGFRL1	OMIM:194190
HP:0000431	Wide nasal bridge	4853	NOTCH2	ORPHA:955
HP:0000431	Wide nasal bridge	9653	HS2ST1	OMIM:619194
HP:0000431	Wide nasal bridge	1857	DVL3	ORPHA:3107
HP:0000431	Wide nasal bridge	1857	DVL3	OMIM:616894
HP:0000431	Wide nasal bridge	2535	FZD2	ORPHA:3107
HP:0000431	Wide nasal bridge	2535	FZD2	OMIM:164745
HP:0000431	Wide nasal bridge	9508	ADAMTS3	ORPHA:2136
HP:0000431	Wide nasal bridge	147372	CCBE1	ORPHA:2136
HP:0000431	Wide nasal bridge	147372	CCBE1	OMIM:235510
HP:0000431	Wide nasal bridge	6660	SOX5	OMIM:616803
HP:0000431	Wide nasal bridge	6804	STX1A	ORPHA:904
HP:0000431	Wide nasal bridge	7461	CLIP2	ORPHA:904
HP:0000431	Wide nasal bridge	84277	DNAJC30	ORPHA:904
HP:0000431	Wide nasal bridge	8468	FKBP6	ORPHA:904
HP:0000431	Wide nasal bridge	5982	RFC2	ORPHA:904
HP:0000431	Wide nasal bridge	2969	GTF2I	ORPHA:904
HP:0000431	Wide nasal bridge	3984	LIMK1	ORPHA:904
HP:0000431	Wide nasal bridge	9569	GTF2IRD1	ORPHA:904
HP:0000431	Wide nasal bridge	155382	VPS37D	ORPHA:904
HP:0000431	Wide nasal bridge	155368	METTL27	ORPHA:904
HP:0000431	Wide nasal bridge	114049	BUD23	ORPHA:904
HP:0000431	Wide nasal bridge	7458	EIF4H	ORPHA:904
HP:0000431	Wide nasal bridge	84163	GTF2IRD2	ORPHA:904
HP:0000431	Wide nasal bridge	26608	TBL2	ORPHA:904
HP:0000431	Wide nasal bridge	653361	NCF1	ORPHA:904
HP:0000431	Wide nasal bridge	135886	TMEM270	ORPHA:904
HP:0000431	Wide nasal bridge	9031	BAZ1B	ORPHA:904
HP:0000431	Wide nasal bridge	2006	ELN	ORPHA:904
HP:0000431	Wide nasal bridge	54499	TMCO1	OMIM:213980
HP:0000431	Wide nasal bridge	9719	ADAMTSL2	OMIM:231050
HP:0000431	Wide nasal bridge	10236	HNRNPR	OMIM:620073
HP:0000431	Wide nasal bridge	51611	DPH5	OMIM:620070
HP:0000431	Wide nasal bridge	78989	COLEC11	OMIM:265050
HP:0000431	Wide nasal bridge	5594	MAPK1	OMIM:619087
HP:0000431	Wide nasal bridge	5192	PEX10	OMIM:614870
HP:0000431	Wide nasal bridge	5192	PEX10	ORPHA:44
HP:0000431	Wide nasal bridge	5192	PEX10	ORPHA:912
HP:0000431	Wide nasal bridge	92002	CCNQ	ORPHA:140952
HP:0000431	Wide nasal bridge	5591	PRKDC	OMIM:615966
HP:0000431	Wide nasal bridge	388015	RTL1	ORPHA:96334
HP:0000431	Wide nasal bridge	8788	DLK1	ORPHA:96334
HP:0000431	Wide nasal bridge	55384	MEG3	ORPHA:96334
HP:0000431	Wide nasal bridge	55343	SLC35C1	ORPHA:99843
HP:0000431	Wide nasal bridge	9342	SNAP29	OMIM:609528
HP:0000431	Wide nasal bridge	55670	PEX26	ORPHA:44
HP:0000431	Wide nasal bridge	55670	PEX26	ORPHA:912
HP:0000431	Wide nasal bridge	5824	PEX19	ORPHA:44
HP:0000431	Wide nasal bridge	5824	PEX19	OMIM:614886
HP:0000431	Wide nasal bridge	5824	PEX19	ORPHA:912
HP:0000431	Wide nasal bridge	5828	PEX2	ORPHA:44
HP:0000431	Wide nasal bridge	5828	PEX2	ORPHA:912
HP:0000431	Wide nasal bridge	8504	PEX3	ORPHA:44
HP:0000431	Wide nasal bridge	8504	PEX3	ORPHA:912
HP:0000431	Wide nasal bridge	9409	PEX16	ORPHA:44
HP:0000431	Wide nasal bridge	9409	PEX16	ORPHA:912
HP:0000431	Wide nasal bridge	5190	PEX6	ORPHA:44
HP:0000431	Wide nasal bridge	5190	PEX6	ORPHA:912
HP:0000431	Wide nasal bridge	8799	PEX11B	ORPHA:44
HP:0000431	Wide nasal bridge	8799	PEX11B	ORPHA:912
HP:0000431	Wide nasal bridge	5194	PEX13	ORPHA:44
HP:0000431	Wide nasal bridge	5194	PEX13	ORPHA:912
HP:0000431	Wide nasal bridge	5195	PEX14	ORPHA:44
HP:0000431	Wide nasal bridge	5195	PEX14	OMIM:614887
HP:0000431	Wide nasal bridge	5195	PEX14	ORPHA:912
HP:0000431	Wide nasal bridge	7355	SLC35A2	OMIM:300896
HP:0000431	Wide nasal bridge	9968	MED12	OMIM:300895
HP:0000431	Wide nasal bridge	546	ATRX	OMIM:309580
HP:0000431	Wide nasal bridge	7140	TNNT3	ORPHA:1147
HP:0000431	Wide nasal bridge	7169	TPM2	ORPHA:1147
HP:0000431	Wide nasal bridge	79791	FBXO31	OMIM:615979
HP:0000431	Wide nasal bridge	6509	SLC1A4	ORPHA:447997
HP:0000431	Wide nasal bridge	157570	ESCO2	OMIM:268300
HP:0000431	Wide nasal bridge	2245	FGD1	ORPHA:915
HP:0000431	Wide nasal bridge	2245	FGD1	OMIM:305400
HP:0000431	Wide nasal bridge	10664	CTCF	OMIM:615502
HP:0000431	Wide nasal bridge	8216	LZTR1	OMIM:605275
HP:0000431	Wide nasal bridge	90417	KNSTRN	OMIM:613328
HP:0000431	Wide nasal bridge	90417	KNSTRN	ORPHA:221139
HP:0000431	Wide nasal bridge	5293	PIK3CD	OMIM:613328
HP:0000431	Wide nasal bridge	5293	PIK3CD	ORPHA:221139
HP:0000431	Wide nasal bridge	55081	IFT57	OMIM:617927
HP:0000431	Wide nasal bridge	3720	JARID2	OMIM:620098
HP:0000431	Wide nasal bridge	4000	LMNA	ORPHA:2229
HP:0000431	Wide nasal bridge	4054	LTBP3	OMIM:617809
HP:0000431	Wide nasal bridge	60529	ALX4	OMIM:613451
HP:0000431	Wide nasal bridge	23394	ADNP	OMIM:615873
HP:0000431	Wide nasal bridge	8092	ALX1	OMIM:613456
HP:0000431	Wide nasal bridge	8092	ALX1	ORPHA:306542
HP:0000431	Wide nasal bridge	85358	SHANK3	OMIM:606232
HP:0000431	Wide nasal bridge	23028	KDM1A	OMIM:616728
HP:0000431	Wide nasal bridge	23028	KDM1A	ORPHA:477993
HP:0000431	Wide nasal bridge	5859	QARS1	OMIM:615760
HP:0000431	Wide nasal bridge	5160	PDHA1	OMIM:312170
HP:0000431	Wide nasal bridge	10525	HYOU1	OMIM:233600
HP:0000431	Wide nasal bridge	4893	NRAS	OMIM:613224
HP:0000431	Wide nasal bridge	998	CDC42	OMIM:616737
HP:0000431	Wide nasal bridge	998	CDC42	ORPHA:487796
HP:0000431	Wide nasal bridge	3097	HIVEP2	OMIM:616977
HP:0000431	Wide nasal bridge	5915	RARB	OMIM:615524
HP:0000431	Wide nasal bridge	10982	MAPRE2	OMIM:616734
HP:0000431	Wide nasal bridge	5053	PAH	ORPHA:2209
HP:0000431	Wide nasal bridge	26224	FBXL3	OMIM:606220
HP:0000431	Wide nasal bridge	10735	STAG2	OMIM:301022
HP:0000431	Wide nasal bridge	10265	IRX5	OMIM:611174
HP:0000431	Wide nasal bridge	6774	STAT3	ORPHA:2314
HP:0000431	Wide nasal bridge	2068	ERCC2	ORPHA:1466
HP:0000431	Wide nasal bridge	2067	ERCC1	ORPHA:1466
HP:0000431	Wide nasal bridge	2074	ERCC6	ORPHA:1466
HP:0000431	Wide nasal bridge	2073	ERCC5	ORPHA:1466
HP:0000431	Wide nasal bridge	5925	RB1	ORPHA:1587
HP:0000431	Wide nasal bridge	23511	NUP188	OMIM:618804
HP:0000431	Wide nasal bridge	55603	TENT5A	OMIM:617952
HP:0000431	Wide nasal bridge	4358	MPV17	OMIM:256810
HP:0000431	Wide nasal bridge	1063	CENPF	OMIM:243605
HP:0000431	Wide nasal bridge	55764	IFT122	OMIM:218330
HP:0000431	Wide nasal bridge	2248	FGF3	ORPHA:90024
HP:0000431	Wide nasal bridge	54539	NDUFB11	ORPHA:2556
HP:0000431	Wide nasal bridge	1349	COX7B	ORPHA:2556
HP:0000431	Wide nasal bridge	3052	HCCS	ORPHA:2556
HP:0000431	Wide nasal bridge	54806	AHI1	OMIM:608629
HP:0000431	Wide nasal bridge	9241	NOG	OMIM:186500
HP:0000431	Wide nasal bridge	5718	PSMD12	ORPHA:529962
HP:0000431	Wide nasal bridge	2186	BPTF	ORPHA:529962
HP:0000431	Wide nasal bridge	7421	VDR	OMIM:277440
HP:0000431	Wide nasal bridge	55210	ATAD3A	OMIM:618810
HP:0000431	Wide nasal bridge	139285	AMER1	ORPHA:2780
HP:0000431	Wide nasal bridge	139285	AMER1	OMIM:300373
HP:0000431	Wide nasal bridge	2313	FLI1	ORPHA:2308
HP:0000431	Wide nasal bridge	9997	SCO2	OMIM:604377
HP:0000431	Wide nasal bridge	1861	TOR1A	OMIM:618947
HP:0000431	Wide nasal bridge	23040	MYT1L	OMIM:616521
HP:0000431	Wide nasal bridge	25885	POLR1A	ORPHA:1200
HP:0000431	Wide nasal bridge	10907	TXNL4A	ORPHA:1200
HP:0000431	Wide nasal bridge	91461	PKDCC	OMIM:618821
HP:0000431	Wide nasal bridge	285175	UNC80	ORPHA:371364
HP:0000431	Wide nasal bridge	25914	RTTN	ORPHA:468631
HP:0000431	Wide nasal bridge	55617	TASP1	OMIM:618950
HP:0000431	Wide nasal bridge	5075	PAX1	OMIM:615560
HP:0000431	Wide nasal bridge	114928	GPRASP2	OMIM:301018
HP:0000431	Wide nasal bridge	92335	STRADA	OMIM:611087
HP:0000431	Wide nasal bridge	6911	TBX6	ORPHA:1797
HP:0000431	Wide nasal bridge	202018	TAPT1	OMIM:616897
HP:0000431	Wide nasal bridge	80210	ARMC9	OMIM:617622
HP:0000431	Wide nasal bridge	3832	KIF11	ORPHA:2526
HP:0000431	Wide nasal bridge	7291	TWIST1	OMIM:617746
HP:0000431	Wide nasal bridge	6591	SNAI2	ORPHA:2884
HP:0000431	Wide nasal bridge	3815	KIT	ORPHA:2884
HP:0000431	Wide nasal bridge	51	ACOX1	OMIM:264470
HP:0000431	Wide nasal bridge	4094	MAF	OMIM:601088
HP:0000431	Wide nasal bridge	95	ACY1	OMIM:609924
HP:0000431	Wide nasal bridge	54888	NSUN2	OMIM:611091
HP:0000431	Wide nasal bridge	387	RHOA	OMIM:618727
HP:0000431	Wide nasal bridge	5116	PCNT	ORPHA:2637
HP:0000431	Wide nasal bridge	85378	TUBGCP6	ORPHA:2518
HP:0000431	Wide nasal bridge	27229	TUBGCP4	ORPHA:2518
HP:0000431	Wide nasal bridge	10733	PLK4	ORPHA:2518
HP:0000431	Wide nasal bridge	4750	NEK1	ORPHA:2751
HP:0000431	Wide nasal bridge	3778	KCNMA1	OMIM:618729
HP:0000431	Wide nasal bridge	25782	RAB3GAP2	ORPHA:2510
HP:0000431	Wide nasal bridge	22931	RAB18	ORPHA:2510
HP:0000431	Wide nasal bridge	128637	TBC1D20	ORPHA:2510
HP:0000431	Wide nasal bridge	71	ACTG1	ORPHA:2995
HP:0000431	Wide nasal bridge	4204	MECP2	OMIM:300260
HP:0000431	Wide nasal bridge	11133	KPTN	ORPHA:397612
HP:0000431	Wide nasal bridge	29071	C1GALT1C1	OMIM:301110
HP:0000431	Wide nasal bridge	55553	SOX6	OMIM:618971
HP:0000431	Wide nasal bridge	5087	PBX1	OMIM:617641
HP:0000431	Wide nasal bridge	92935	MARS2	OMIM:616430
HP:0000431	Wide nasal bridge	523	ATP6V1A	OMIM:617403
HP:0000431	Wide nasal bridge	57728	WDR19	OMIM:614376
HP:0000431	Wide nasal bridge	3762	KCNJ5	ORPHA:37553
HP:0000431	Wide nasal bridge	3759	KCNJ2	ORPHA:37553
HP:0000431	Wide nasal bridge	9990	SLC12A6	OMIM:218000
HP:0001735	Acute pancreatitis	3155	HMGCL	ORPHA:20
HP:0001735	Acute pancreatitis	3712	IVD	ORPHA:33
HP:0001735	Acute pancreatitis	100147744	RNU7-1	OMIM:619487
HP:0001735	Acute pancreatitis	286053	NSMCE2	OMIM:617253
HP:0001735	Acute pancreatitis	4000	LMNA	OMIM:151660
HP:0001735	Acute pancreatitis	26580	BSCL2	OMIM:269700
HP:0001735	Acute pancreatitis	79415	CYBC1	OMIM:618935
HP:0001735	Acute pancreatitis	4023	LPL	OMIM:238600
HP:0001735	Acute pancreatitis	348	APOE	ORPHA:412
HP:0001735	Acute pancreatitis	10555	AGPAT2	OMIM:608594
HP:0025352	Typically de novo	5296	PIK3R2	OMIM:603387
HP:0025352	Typically de novo	23250	ATP11A	OMIM:619851
HP:0025352	Typically de novo	5594	MAPK1	OMIM:619087
HP:0025352	Typically de novo	1822	ATN1	OMIM:618494
HP:0025352	Typically de novo	57680	CHD8	OMIM:615032
HP:0025352	Typically de novo	10501	SEMA6B	OMIM:618876
HP:0025352	Typically de novo	2783	GNB2	OMIM:619503
HP:0025352	Typically de novo	58508	KMT2C	OMIM:617768
HP:0025352	Typically de novo	27102	EIF2AK1	OMIM:618878
HP:0025352	Typically de novo	5290	PIK3CA	OMIM:619538
HP:0025352	Typically de novo	5430	POLR2A	OMIM:618603
HP:0025352	Typically de novo	51341	ZBTB7A	OMIM:619769
HP:0025354	Abnormal cellular phenotype	64421	DCLRE1C	ORPHA:275
HP:0025354	Abnormal cellular phenotype	695	BTK	OMIM:300755
HP:0025354	Abnormal cellular phenotype	3932	LCK	OMIM:615758
HP:0025354	Abnormal cellular phenotype	987	LRBA	OMIM:614700
HP:0025354	Abnormal cellular phenotype	5424	POLD1	OMIM:620836
HP:0025354	Abnormal cellular phenotype	8085	KMT2D	ORPHA:2322
HP:0025354	Abnormal cellular phenotype	8085	KMT2D	OMIM:147920
HP:0025354	Abnormal cellular phenotype	7403	KDM6A	ORPHA:2322
HP:0025354	Abnormal cellular phenotype	7403	KDM6A	OMIM:147920
HP:0025354	Abnormal cellular phenotype	3543	IGLL1	OMIM:613500
HP:0025354	Abnormal cellular phenotype	2314	FLII	ORPHA:819
HP:0025354	Abnormal cellular phenotype	23096	IQSEC2	ORPHA:819
HP:0025354	Abnormal cellular phenotype	10522	DEAF1	ORPHA:819
HP:0025354	Abnormal cellular phenotype	29760	BLNK	OMIM:613502
HP:0025354	Abnormal cellular phenotype	868	CBLB	OMIM:620430
HP:0025354	Abnormal cellular phenotype	29927	SEC61A1	OMIM:620670
HP:0025354	Abnormal cellular phenotype	84876	ORAI1	OMIM:612782
HP:0025354	Abnormal cellular phenotype	9020	MAP3K14	OMIM:620449
HP:0025354	Abnormal cellular phenotype	6786	STIM1	OMIM:612783
HP:0025354	Abnormal cellular phenotype	8792	TNFRSF11A	OMIM:612301
HP:0025354	Abnormal cellular phenotype	3117	HLA-DQA1	OMIM:212750
HP:0025354	Abnormal cellular phenotype	3119	HLA-DQB1	OMIM:212750
HP:0025354	Abnormal cellular phenotype	10815	CPLX1	ORPHA:280
HP:0025354	Abnormal cellular phenotype	54872	PIGG	ORPHA:280
HP:0025354	Abnormal cellular phenotype	7469	NELFA	ORPHA:280
HP:0025354	Abnormal cellular phenotype	1487	CTBP1	ORPHA:280
HP:0025354	Abnormal cellular phenotype	3954	LETM1	ORPHA:280
HP:0025354	Abnormal cellular phenotype	7468	NSD2	ORPHA:280
HP:0025354	Abnormal cellular phenotype	2475	MTOR	ORPHA:457485
HP:0025354	Abnormal cellular phenotype	2475	MTOR	OMIM:616638
HP:0025354	Abnormal cellular phenotype	5373	PMM2	OMIM:212065
HP:0025354	Abnormal cellular phenotype	10043	TOM1	OMIM:619510
HP:0025354	Abnormal cellular phenotype	10526	IPO8	OMIM:619472
HP:0025354	Abnormal cellular phenotype	51604	PIGT	ORPHA:369837
HP:0025354	Abnormal cellular phenotype	54440	SASH3	OMIM:301082
HP:0025354	Abnormal cellular phenotype	60468	BACH2	OMIM:618394
HP:0025354	Abnormal cellular phenotype	83737	ITCH	OMIM:613385
HP:0025354	Abnormal cellular phenotype	974	CD79B	OMIM:612692
HP:0025354	Abnormal cellular phenotype	5336	PLCG2	OMIM:614878
HP:0025354	Abnormal cellular phenotype	84905	ZNF341	OMIM:618282
HP:0025354	Abnormal cellular phenotype	139818	DOCK11	OMIM:301109
HP:0025354	Abnormal cellular phenotype	5557	PRIM1	OMIM:620005
HP:0025354	Abnormal cellular phenotype	3501	IGHG2	ORPHA:183675
HP:0025354	Abnormal cellular phenotype	6688	SPI1	OMIM:619707
HP:0025354	Abnormal cellular phenotype	284119	CAVIN1	OMIM:613327
HP:0025354	Abnormal cellular phenotype	6929	TCF3	OMIM:619824
HP:0025354	Abnormal cellular phenotype	4893	NRAS	OMIM:614470
HP:0025354	Abnormal cellular phenotype	3845	KRAS	OMIM:614470
HP:0025354	Abnormal cellular phenotype	958	CD40	OMIM:606843
HP:0025354	Abnormal cellular phenotype	959	CD40LG	OMIM:308230
HP:0025354	Abnormal cellular phenotype	30011	SH3KBP1	OMIM:300310
HP:0025354	Abnormal cellular phenotype	3570	IL6R	OMIM:618944
HP:0025354	Abnormal cellular phenotype	28956	LAMTOR2	OMIM:610798
HP:0025354	Abnormal cellular phenotype	23387	SIK3	OMIM:618162
HP:0025354	Abnormal cellular phenotype	5426	POLE	OMIM:615139
HP:0025354	Abnormal cellular phenotype	81704	DOCK8	OMIM:243700
HP:0025354	Abnormal cellular phenotype	96459	FNIP1	OMIM:619705
HP:0025354	Abnormal cellular phenotype	9138	ARHGEF1	OMIM:618459
HP:0025354	Abnormal cellular phenotype	8883	NAE1	OMIM:620210
HP:0025354	Abnormal cellular phenotype	140732	SUN5	ORPHA:529970
HP:0025354	Abnormal cellular phenotype	83449	PMFBP1	ORPHA:529970
HP:0025354	Abnormal cellular phenotype	4204	MECP2	ORPHA:1762
HP:0025354	Abnormal cellular phenotype	6469	SHH	OMIM:147250
HP:0025354	Abnormal cellular phenotype	3930	LBR	OMIM:169400
HP:0025354	Abnormal cellular phenotype	2697	GJA1	ORPHA:2248
HP:0025354	Abnormal cellular phenotype	1482	NKX2-5	ORPHA:2248
HP:0025354	Abnormal cellular phenotype	10743	RAI1	ORPHA:1713
HP:0025354	Abnormal cellular phenotype	1737	DLAT	OMIM:245348
HP:0025354	Abnormal cellular phenotype	51218	GLRX5	ORPHA:401866
HP:0025354	Abnormal cellular phenotype	51218	GLRX5	OMIM:616859
HP:0025354	Abnormal cellular phenotype	8050	PDHX	OMIM:245349
HP:0025354	Abnormal cellular phenotype	8050	PDHX	ORPHA:255182
HP:0025354	Abnormal cellular phenotype	5162	PDHB	ORPHA:255138
HP:0025354	Abnormal cellular phenotype	11019	LIAS	OMIM:614462
HP:0025354	Abnormal cellular phenotype	1892	ECHS1	OMIM:616277
HP:0025354	Abnormal cellular phenotype	5160	PDHA1	OMIM:312170
HP:0025354	Abnormal cellular phenotype	388962	BOLA3	OMIM:614299
HP:0025354	Abnormal cellular phenotype	54148	MRPL39	OMIM:620646
HP:0025354	Abnormal cellular phenotype	64116	SLC39A8	ORPHA:468699
HP:0025354	Abnormal cellular phenotype	54704	PDP1	OMIM:608782
HP:0025354	Abnormal cellular phenotype	54704	PDP1	ORPHA:79246
HP:0025354	Abnormal cellular phenotype	57379	AICDA	OMIM:605258
HP:0025354	Abnormal cellular phenotype	7374	UNG	OMIM:608106
HP:0025354	Abnormal cellular phenotype	7454	WAS	OMIM:301000
HP:0025354	Abnormal cellular phenotype	57724	EPG5	OMIM:242840
HP:0025354	Abnormal cellular phenotype	5873	RAB27A	OMIM:607624
HP:0025354	Abnormal cellular phenotype	1643	DDB2	OMIM:278740
HP:0025354	Abnormal cellular phenotype	2073	ERCC5	OMIM:278780
HP:0025354	Abnormal cellular phenotype	404672	GTF2H5	ORPHA:33364
HP:0025354	Abnormal cellular phenotype	833	CARS1	ORPHA:33364
HP:0025354	Abnormal cellular phenotype	2068	ERCC2	ORPHA:33364
HP:0025354	Abnormal cellular phenotype	2068	ERCC2	OMIM:278730
HP:0025354	Abnormal cellular phenotype	7737	RNF113A	ORPHA:33364
HP:0025354	Abnormal cellular phenotype	136647	MPLKIP	ORPHA:33364
HP:0025354	Abnormal cellular phenotype	6897	TARS1	ORPHA:33364
HP:0025354	Abnormal cellular phenotype	16	AARS1	ORPHA:33364
HP:0025354	Abnormal cellular phenotype	2961	GTF2E2	ORPHA:33364
HP:0025354	Abnormal cellular phenotype	7508	XPC	OMIM:278720
HP:0025354	Abnormal cellular phenotype	7507	XPA	OMIM:278700
HP:0025354	Abnormal cellular phenotype	6499	SKIC2	ORPHA:84064
HP:0025354	Abnormal cellular phenotype	50615	IL21R	OMIM:615207
HP:0025354	Abnormal cellular phenotype	3431	SP110	ORPHA:79124
HP:0025354	Abnormal cellular phenotype	4982	TNFRSF11B	OMIM:239000
HP:0025354	Abnormal cellular phenotype	4041	LRP5	OMIM:607634
HP:0025354	Abnormal cellular phenotype	4952	OCRL	OMIM:309000
HP:0025354	Abnormal cellular phenotype	760	CA2	OMIM:259730
HP:0025354	Abnormal cellular phenotype	760	CA2	ORPHA:2785
HP:0025354	Abnormal cellular phenotype	1186	CLCN7	OMIM:166600
HP:0025354	Abnormal cellular phenotype	5660	PSAP	OMIM:610539
HP:0025354	Abnormal cellular phenotype	2055	CLN8	ORPHA:1947
HP:0025354	Abnormal cellular phenotype	1203	CLN5	OMIM:256731
HP:0025354	Abnormal cellular phenotype	1201	CLN3	OMIM:204200
HP:0025354	Abnormal cellular phenotype	54982	CLN6	OMIM:204300
HP:0025354	Abnormal cellular phenotype	54982	CLN6	OMIM:601780
HP:0025354	Abnormal cellular phenotype	1200	TPP1	OMIM:204500
HP:0025354	Abnormal cellular phenotype	80331	DNAJC5	OMIM:162350
HP:0025354	Abnormal cellular phenotype	154881	KCTD7	OMIM:611726
HP:0025354	Abnormal cellular phenotype	64170	CARD9	OMIM:212050
HP:0025354	Abnormal cellular phenotype	3071	NCKAP1L	OMIM:618982
HP:0025354	Abnormal cellular phenotype	29775	CARD10	OMIM:619632
HP:0025354	Abnormal cellular phenotype	1041	CDSN	ORPHA:90368
HP:0025354	Abnormal cellular phenotype	1041	CDSN	OMIM:270300
HP:0025354	Abnormal cellular phenotype	121391	KRT74	ORPHA:90368
HP:0025354	Abnormal cellular phenotype	6777	STAT5B	OMIM:618985
HP:0025354	Abnormal cellular phenotype	50943	FOXP3	OMIM:304790
HP:0025354	Abnormal cellular phenotype	50943	FOXP3	ORPHA:37042
HP:0025354	Abnormal cellular phenotype	3857	KRT9	OMIM:144200
HP:0025354	Abnormal cellular phenotype	7297	TYK2	OMIM:611521
HP:0025354	Abnormal cellular phenotype	51135	IRAK4	OMIM:607676
HP:0025354	Abnormal cellular phenotype	2239	GPC4	ORPHA:373
HP:0025354	Abnormal cellular phenotype	2719	GPC3	ORPHA:373
HP:0025354	Abnormal cellular phenotype	1956	EGFR	OMIM:616069
HP:0025354	Abnormal cellular phenotype	6868	ADAM17	OMIM:614328
HP:0025354	Abnormal cellular phenotype	10092	ARPC5	OMIM:620565
HP:0025354	Abnormal cellular phenotype	1828	DSG1	OMIM:615508
HP:0025354	Abnormal cellular phenotype	6778	STAT6	OMIM:620532
HP:0025354	Abnormal cellular phenotype	472	ATM	ORPHA:100
HP:0025354	Abnormal cellular phenotype	6023	RMRP	ORPHA:175
HP:0025354	Abnormal cellular phenotype	2189	FANCG	OMIM:614082
HP:0025354	Abnormal cellular phenotype	2189	FANCG	ORPHA:84
HP:0025354	Abnormal cellular phenotype	2187	FANCB	OMIM:300514
HP:0025354	Abnormal cellular phenotype	2187	FANCB	ORPHA:84
HP:0025354	Abnormal cellular phenotype	29128	UHRF1	ORPHA:2268
HP:0025354	Abnormal cellular phenotype	3070	HELLS	ORPHA:2268
HP:0025354	Abnormal cellular phenotype	1789	DNMT3B	ORPHA:2268
HP:0025354	Abnormal cellular phenotype	83879	CDCA7	ORPHA:2268
HP:0025354	Abnormal cellular phenotype	9841	ZBTB24	ORPHA:2268
HP:0025354	Abnormal cellular phenotype	641	BLM	OMIM:210900
HP:0025354	Abnormal cellular phenotype	7518	XRCC4	ORPHA:99812
HP:0025354	Abnormal cellular phenotype	3981	LIG4	ORPHA:99812
HP:0025354	Abnormal cellular phenotype	4683	NBN	ORPHA:647
HP:0025354	Abnormal cellular phenotype	6948	TCN2	ORPHA:859
HP:0025354	Abnormal cellular phenotype	672	BRCA1	ORPHA:84
HP:0025354	Abnormal cellular phenotype	10459	MAD2L2	ORPHA:84
HP:0025354	Abnormal cellular phenotype	7516	XRCC2	ORPHA:84
HP:0025354	Abnormal cellular phenotype	29089	UBE2T	ORPHA:84
HP:0025354	Abnormal cellular phenotype	675	BRCA2	ORPHA:84
HP:0025354	Abnormal cellular phenotype	55120	FANCL	ORPHA:84
HP:0025354	Abnormal cellular phenotype	2177	FANCD2	ORPHA:84
HP:0025354	Abnormal cellular phenotype	2175	FANCA	ORPHA:84
HP:0025354	Abnormal cellular phenotype	2176	FANCC	ORPHA:84
HP:0025354	Abnormal cellular phenotype	2178	FANCE	ORPHA:84
HP:0025354	Abnormal cellular phenotype	2188	FANCF	ORPHA:84
HP:0025354	Abnormal cellular phenotype	5888	RAD51	ORPHA:84
HP:0025354	Abnormal cellular phenotype	5889	RAD51C	ORPHA:84
HP:0025354	Abnormal cellular phenotype	55159	RFWD3	ORPHA:84
HP:0025354	Abnormal cellular phenotype	83990	BRIP1	ORPHA:84
HP:0025354	Abnormal cellular phenotype	57697	FANCM	ORPHA:84
HP:0025354	Abnormal cellular phenotype	79728	PALB2	ORPHA:84
HP:0025354	Abnormal cellular phenotype	84464	SLX4	ORPHA:84
HP:0025354	Abnormal cellular phenotype	2072	ERCC4	ORPHA:84
HP:0025354	Abnormal cellular phenotype	55215	FANCI	ORPHA:84
HP:0025354	Abnormal cellular phenotype	338657	CENATAC	OMIM:620153
HP:0025354	Abnormal cellular phenotype	1327	COX4I1	OMIM:619060
HP:0025354	Abnormal cellular phenotype	64858	DCLRE1B	OMIM:620133
HP:0025354	Abnormal cellular phenotype	1161	ERCC8	OMIM:614621
HP:0025354	Abnormal cellular phenotype	1161	ERCC8	OMIM:216400
HP:0025354	Abnormal cellular phenotype	2074	ERCC6	OMIM:133540
HP:0025354	Abnormal cellular phenotype	2074	ERCC6	OMIM:600630
HP:0025354	Abnormal cellular phenotype	57654	UVSSA	OMIM:614640
HP:0025354	Abnormal cellular phenotype	2071	ERCC3	OMIM:610651
HP:0025354	Abnormal cellular phenotype	2395	FXN	OMIM:229300
HP:0025354	Abnormal cellular phenotype	1738	DLD	ORPHA:2394
HP:0025354	Abnormal cellular phenotype	3155	HMGCL	OMIM:246450
HP:0025354	Abnormal cellular phenotype	4556	MT-TE	ORPHA:254864
HP:0025354	Abnormal cellular phenotype	55687	TRMU	ORPHA:254864
HP:0025354	Abnormal cellular phenotype	37	ACADVL	OMIM:201475
HP:0025354	Abnormal cellular phenotype	4695	NDUFA2	OMIM:618235
HP:0025354	Abnormal cellular phenotype	34	ACADM	OMIM:201450
HP:0025354	Abnormal cellular phenotype	1294	COL7A1	ORPHA:89842
HP:0025354	Abnormal cellular phenotype	27034	ACAD8	OMIM:611283
HP:0025354	Abnormal cellular phenotype	27034	ACAD8	ORPHA:79159
HP:0025354	Abnormal cellular phenotype	133686	NADK2	ORPHA:431361
HP:0025354	Abnormal cellular phenotype	3033	HADH	ORPHA:71212
HP:0025354	Abnormal cellular phenotype	28976	ACAD9	ORPHA:99901
HP:0025354	Abnormal cellular phenotype	64087	MCCC2	OMIM:210210
HP:0025354	Abnormal cellular phenotype	788	SLC25A20	ORPHA:159
HP:0025354	Abnormal cellular phenotype	1962	EHHADH	ORPHA:3337
HP:0025354	Abnormal cellular phenotype	2628	GATM	ORPHA:3337
HP:0025354	Abnormal cellular phenotype	137682	NDUFAF6	ORPHA:3337
HP:0025354	Abnormal cellular phenotype	6569	SLC34A1	ORPHA:3337
HP:0025354	Abnormal cellular phenotype	6584	SLC22A5	OMIM:212140
HP:0025354	Abnormal cellular phenotype	340061	STING1	OMIM:615934
HP:0025354	Abnormal cellular phenotype	7174	TPP2	OMIM:619220
HP:0025354	Abnormal cellular phenotype	22861	NLRP1	OMIM:617388
HP:0025354	Abnormal cellular phenotype	3560	IL2RB	OMIM:618495
HP:0025354	Abnormal cellular phenotype	3459	IFNGR1	OMIM:209950
HP:0025354	Abnormal cellular phenotype	90268	OTULIN	OMIM:617099
HP:0025354	Abnormal cellular phenotype	4598	MVK	OMIM:260920
HP:0025354	Abnormal cellular phenotype	4598	MVK	ORPHA:343
HP:0025354	Abnormal cellular phenotype	3659	IRF1	OMIM:620668
HP:0025354	Abnormal cellular phenotype	3594	IL12RB1	ORPHA:186
HP:0025354	Abnormal cellular phenotype	23534	TNPO3	ORPHA:186
HP:0025354	Abnormal cellular phenotype	3592	IL12A	ORPHA:186
HP:0025354	Abnormal cellular phenotype	6689	SPIB	ORPHA:186
HP:0025354	Abnormal cellular phenotype	5450	POU2AF1	ORPHA:186
HP:0025354	Abnormal cellular phenotype	9966	TNFSF15	ORPHA:186
HP:0025354	Abnormal cellular phenotype	79258	MMEL1	ORPHA:186
HP:0025354	Abnormal cellular phenotype	3663	IRF5	ORPHA:186
HP:0025354	Abnormal cellular phenotype	79158	GNPTAB	OMIM:252600
HP:0025354	Abnormal cellular phenotype	79158	GNPTAB	OMIM:252500
HP:0025354	Abnormal cellular phenotype	1786	DNMT1	ORPHA:314404
HP:0025354	Abnormal cellular phenotype	26275	HIBCH	ORPHA:88639
HP:0025354	Abnormal cellular phenotype	204	AK2	ORPHA:33355
HP:0025354	Abnormal cellular phenotype	3028	HSD17B10	ORPHA:391428
HP:0025354	Abnormal cellular phenotype	10483	SEC23B	OMIM:224100
HP:0025354	Abnormal cellular phenotype	146059	CDAN1	OMIM:224120
HP:0025354	Abnormal cellular phenotype	1497	CTNS	OMIM:219800
HP:0025354	Abnormal cellular phenotype	1497	CTNS	OMIM:219900
HP:0025354	Abnormal cellular phenotype	79648	MCPH1	OMIM:251200
HP:0025354	Abnormal cellular phenotype	2859	GPR35	ORPHA:171
HP:0025354	Abnormal cellular phenotype	10507	SEMA4D	ORPHA:171
HP:0025354	Abnormal cellular phenotype	4485	MST1	ORPHA:171
HP:0025354	Abnormal cellular phenotype	6925	TCF4	ORPHA:171
HP:0025354	Abnormal cellular phenotype	4615	MYD88	OMIM:153600
HP:0025354	Abnormal cellular phenotype	200942	KLHDC8B	OMIM:236000
HP:0025354	Abnormal cellular phenotype	1536	CYBB	OMIM:306400
HP:0025354	Abnormal cellular phenotype	1535	CYBA	OMIM:233690
HP:0025354	Abnormal cellular phenotype	2332	FMR1	ORPHA:908
HP:0025354	Abnormal cellular phenotype	2332	FMR1	OMIM:300624
HP:0025354	Abnormal cellular phenotype	84548	TMEM185A	ORPHA:100974
HP:0025354	Abnormal cellular phenotype	6005	RHAG	OMIM:185000
HP:0025354	Abnormal cellular phenotype	6513	SLC2A1	ORPHA:168577
HP:0025354	Abnormal cellular phenotype	157570	ESCO2	OMIM:268300
HP:0025354	Abnormal cellular phenotype	2110	ETFDH	OMIM:231680
HP:0025354	Abnormal cellular phenotype	2108	ETFA	OMIM:231680
HP:0025354	Abnormal cellular phenotype	2109	ETFB	OMIM:231680
HP:0025354	Abnormal cellular phenotype	138050	HGSNAT	OMIM:252930
HP:0025354	Abnormal cellular phenotype	2799	GNS	OMIM:252940
HP:0025354	Abnormal cellular phenotype	6240	RRM1	OMIM:620647
HP:0025354	Abnormal cellular phenotype	10159	ATP6AP2	OMIM:301045
HP:0025354	Abnormal cellular phenotype	83483	PLVAP	OMIM:618183
HP:0025354	Abnormal cellular phenotype	4791	NFKB2	ORPHA:293978
HP:0025354	Abnormal cellular phenotype	4791	NFKB2	ORPHA:1572
HP:0025354	Abnormal cellular phenotype	5728	PTEN	OMIM:605309
HP:0025354	Abnormal cellular phenotype	5728	PTEN	OMIM:158350
HP:0025354	Abnormal cellular phenotype	5728	PTEN	ORPHA:397596
HP:0025354	Abnormal cellular phenotype	23308	ICOSLG	OMIM:620825
HP:0025354	Abnormal cellular phenotype	10309	CCNO	OMIM:615872
HP:0025354	Abnormal cellular phenotype	100151683	RNU4ATAC	ORPHA:353298
HP:0025354	Abnormal cellular phenotype	8737	RIPK1	OMIM:618108
HP:0025354	Abnormal cellular phenotype	113235	SLC46A1	ORPHA:90045
HP:0025354	Abnormal cellular phenotype	2316	FLNA	ORPHA:99811
HP:0025354	Abnormal cellular phenotype	4522	MTHFD1	OMIM:617780
HP:0025354	Abnormal cellular phenotype	10525	HYOU1	OMIM:233600
HP:0025354	Abnormal cellular phenotype	4790	NFKB1	OMIM:616576
HP:0025354	Abnormal cellular phenotype	4790	NFKB1	ORPHA:1572
HP:0025354	Abnormal cellular phenotype	114803	MYSM1	OMIM:618116
HP:0025354	Abnormal cellular phenotype	56259	CTNNBL1	OMIM:619846
HP:0025354	Abnormal cellular phenotype	79840	NHEJ1	ORPHA:169079
HP:0025354	Abnormal cellular phenotype	7037	TFRC	OMIM:616740
HP:0025354	Abnormal cellular phenotype	537	ATP6AP1	OMIM:300972
HP:0025354	Abnormal cellular phenotype	4125	MAN2B1	OMIM:248500
HP:0025354	Abnormal cellular phenotype	7852	CXCR4	OMIM:193670
HP:0025354	Abnormal cellular phenotype	7852	CXCR4	ORPHA:51636
HP:0025354	Abnormal cellular phenotype	7841	MOGS	OMIM:606056
HP:0025354	Abnormal cellular phenotype	7841	MOGS	ORPHA:79330
HP:0025354	Abnormal cellular phenotype	7555	CNBP	ORPHA:606
HP:0025354	Abnormal cellular phenotype	9839	ZEB2	ORPHA:261552
HP:0025354	Abnormal cellular phenotype	9839	ZEB2	ORPHA:261537
HP:0025354	Abnormal cellular phenotype	4478	MSN	OMIM:300988
HP:0025354	Abnormal cellular phenotype	146206	CARMIL2	OMIM:618131
HP:0025354	Abnormal cellular phenotype	10320	IKZF1	OMIM:616873
HP:0025354	Abnormal cellular phenotype	8742	TNFSF12	ORPHA:1572
HP:0025354	Abnormal cellular phenotype	931	MS4A1	ORPHA:1572
HP:0025354	Abnormal cellular phenotype	975	CD81	ORPHA:1572
HP:0025354	Abnormal cellular phenotype	970	CD70	OMIM:618261
HP:0025354	Abnormal cellular phenotype	57217	TTC7A	OMIM:243150
HP:0025354	Abnormal cellular phenotype	595	CCND1	ORPHA:29073
HP:0025354	Abnormal cellular phenotype	51095	TRNT1	OMIM:616084
HP:0025354	Abnormal cellular phenotype	3702	ITK	OMIM:613011
HP:0025354	Abnormal cellular phenotype	3572	IL6ST	OMIM:619750
HP:0025354	Abnormal cellular phenotype	6774	STAT3	OMIM:615952
HP:0025354	Abnormal cellular phenotype	9508	ADAMTS3	ORPHA:2136
HP:0025354	Abnormal cellular phenotype	147372	CCBE1	ORPHA:2136
HP:0025354	Abnormal cellular phenotype	79633	FAT4	ORPHA:2136
HP:0025354	Abnormal cellular phenotype	4796	TONSL	ORPHA:93357
HP:0025354	Abnormal cellular phenotype	3507	IGHM	OMIM:601495
HP:0025354	Abnormal cellular phenotype	1457	CSNK2A1	OMIM:617062
HP:0025354	Abnormal cellular phenotype	493856	CISD2	OMIM:604928
HP:0025354	Abnormal cellular phenotype	8915	BCL10	OMIM:616098
HP:0025354	Abnormal cellular phenotype	5295	PIK3R1	ORPHA:397596
HP:0025354	Abnormal cellular phenotype	5788	PTPRC	OMIM:619924
HP:0025354	Abnormal cellular phenotype	4780	NFE2L2	OMIM:617744
HP:0025354	Abnormal cellular phenotype	51816	ADA2	OMIM:615688
HP:0025354	Abnormal cellular phenotype	10165	SLC25A13	ORPHA:247598
HP:0025354	Abnormal cellular phenotype	5294	PIK3CG	OMIM:619802
HP:0025354	Abnormal cellular phenotype	4938	OAS1	OMIM:618042
HP:0025354	Abnormal cellular phenotype	9652	SKIC3	OMIM:222470
HP:0025354	Abnormal cellular phenotype	10625	IVNS1ABP	OMIM:618969
HP:0025354	Abnormal cellular phenotype	9939	RBM8A	OMIM:274000
HP:0025354	Abnormal cellular phenotype	1604	CD55	OMIM:226300
HP:0025354	Abnormal cellular phenotype	28985	MCTS1	OMIM:301115
HP:0025354	Abnormal cellular phenotype	3852	KRT5	ORPHA:79396
HP:0025354	Abnormal cellular phenotype	3861	KRT14	ORPHA:79396
HP:0025354	Abnormal cellular phenotype	219285	SAMD9L	ORPHA:2585
HP:0025354	Abnormal cellular phenotype	11005	SPINK5	ORPHA:634
HP:0025354	Abnormal cellular phenotype	59067	IL21	OMIM:615767
HP:0025354	Abnormal cellular phenotype	5698	PSMB9	OMIM:620796
HP:0025354	Abnormal cellular phenotype	65082	VPS33A	ORPHA:505248
HP:0025354	Abnormal cellular phenotype	6573	SLC19A1	OMIM:620603
HP:0025354	Abnormal cellular phenotype	374354	NHLRC2	OMIM:618278
HP:0025354	Abnormal cellular phenotype	6651	SON	ORPHA:500150
HP:0025354	Abnormal cellular phenotype	51311	TLR8	OMIM:301078
HP:0025354	Abnormal cellular phenotype	8884	SLC5A6	OMIM:618973
HP:0025354	Abnormal cellular phenotype	84888	SPPL2A	OMIM:619549
HP:0025354	Abnormal cellular phenotype	7922	SLC39A7	OMIM:619693
HP:0025354	Abnormal cellular phenotype	7922	SLC39A7	ORPHA:33110
HP:0025354	Abnormal cellular phenotype	1678	TIMM8A	ORPHA:52368
HP:0025354	Abnormal cellular phenotype	973	CD79A	OMIM:613501
HP:0025354	Abnormal cellular phenotype	973	CD79A	ORPHA:33110
HP:0025354	Abnormal cellular phenotype	56262	LRRC8A	OMIM:613506
HP:0025354	Abnormal cellular phenotype	56262	LRRC8A	ORPHA:33110
HP:0025354	Abnormal cellular phenotype	100	ADA	ORPHA:277
HP:0025354	Abnormal cellular phenotype	359948	IRF2BP2	OMIM:617765
HP:0025354	Abnormal cellular phenotype	4860	PNP	OMIM:613179
HP:0025354	Abnormal cellular phenotype	3718	JAK3	OMIM:600802
HP:0025354	Abnormal cellular phenotype	841	CASP8	OMIM:607271
HP:0025354	Abnormal cellular phenotype	3953	LEPR	ORPHA:179494
HP:0025354	Abnormal cellular phenotype	3952	LEP	ORPHA:66628
HP:0025354	Abnormal cellular phenotype	84061	MAGT1	OMIM:300853
HP:0025354	Abnormal cellular phenotype	7372	UMPS	ORPHA:30
HP:0025354	Abnormal cellular phenotype	7372	UMPS	OMIM:258900
HP:0025354	Abnormal cellular phenotype	6899	TBX1	OMIM:188400
HP:0025354	Abnormal cellular phenotype	6899	TBX1	OMIM:192430
HP:0025354	Abnormal cellular phenotype	6899	TBX1	ORPHA:567
HP:0025354	Abnormal cellular phenotype	115650	TNFRSF13C	OMIM:240500
HP:0025354	Abnormal cellular phenotype	29851	ICOS	OMIM:240500
HP:0025354	Abnormal cellular phenotype	29851	ICOS	OMIM:607594
HP:0025354	Abnormal cellular phenotype	930	CD19	OMIM:240500
HP:0025354	Abnormal cellular phenotype	23495	TNFRSF13B	OMIM:240500
HP:0025354	Abnormal cellular phenotype	1380	CR2	OMIM:240500
HP:0025354	Abnormal cellular phenotype	55630	SLC39A4	OMIM:201100
HP:0025354	Abnormal cellular phenotype	57511	COG6	OMIM:614576
HP:0025354	Abnormal cellular phenotype	54487	DGCR8	OMIM:192430
HP:0025354	Abnormal cellular phenotype	8214	DGCR6	OMIM:192430
HP:0025354	Abnormal cellular phenotype	8220	ESS2	OMIM:192430
HP:0025354	Abnormal cellular phenotype	9993	DGCR2	OMIM:192430
HP:0025354	Abnormal cellular phenotype	1312	COMT	ORPHA:567
HP:0025354	Abnormal cellular phenotype	221037	JMJD1C	ORPHA:567
HP:0025354	Abnormal cellular phenotype	2812	GP1BB	ORPHA:567
HP:0025354	Abnormal cellular phenotype	6239	RREB1	ORPHA:567
HP:0025354	Abnormal cellular phenotype	7290	HIRA	ORPHA:567
HP:0025354	Abnormal cellular phenotype	9632	SEC24C	ORPHA:567
HP:0025354	Abnormal cellular phenotype	7353	UFD1	ORPHA:567
HP:0025354	Abnormal cellular phenotype	421	ARVCF	ORPHA:567
HP:0025354	Abnormal cellular phenotype	1716	DGUOK	OMIM:251880
HP:0025354	Abnormal cellular phenotype	10397	NDRG1	OMIM:601455
HP:0025354	Abnormal cellular phenotype	23479	ISCU	OMIM:255125
HP:0025354	Abnormal cellular phenotype	200205	IBA57	ORPHA:468661
HP:0025354	Abnormal cellular phenotype	200205	IBA57	OMIM:615330
HP:0025354	Abnormal cellular phenotype	112812	FDX2	OMIM:251900
HP:0025354	Abnormal cellular phenotype	6390	SDHB	OMIM:619224
HP:0025354	Abnormal cellular phenotype	51102	MECR	ORPHA:508093
HP:0025354	Abnormal cellular phenotype	51117	COQ4	OMIM:616276
HP:0025354	Abnormal cellular phenotype	9054	NFS1	OMIM:619386
HP:0025354	Abnormal cellular phenotype	6392	SDHD	OMIM:619167
HP:0025354	Abnormal cellular phenotype	125170	MIEF2	OMIM:619024
HP:0025354	Abnormal cellular phenotype	54931	TRMT10C	OMIM:616974
HP:0025354	Abnormal cellular phenotype	84300	UQCC2	OMIM:615824
HP:0025354	Abnormal cellular phenotype	1376	CPT2	OMIM:608836
HP:0025354	Abnormal cellular phenotype	1376	CPT2	ORPHA:228305
HP:0025354	Abnormal cellular phenotype	1376	CPT2	ORPHA:228308
HP:0025354	Abnormal cellular phenotype	6341	SCO1	OMIM:619048
HP:0025354	Abnormal cellular phenotype	4568	MT-TL2	ORPHA:663
HP:0025354	Abnormal cellular phenotype	4567	MT-TL1	ORPHA:663
HP:0025354	Abnormal cellular phenotype	4567	MT-TL1	ORPHA:550
HP:0025354	Abnormal cellular phenotype	4570	MT-TN	ORPHA:663
HP:0025354	Abnormal cellular phenotype	4574	MT-TS1	ORPHA:663
HP:0025354	Abnormal cellular phenotype	4574	MT-TS1	ORPHA:550
HP:0025354	Abnormal cellular phenotype	4558	MT-TF	ORPHA:550
HP:0025354	Abnormal cellular phenotype	4572	MT-TQ	ORPHA:550
HP:0025354	Abnormal cellular phenotype	4512	MT-CO1	ORPHA:550
HP:0025354	Abnormal cellular phenotype	4513	MT-CO2	ORPHA:550
HP:0025354	Abnormal cellular phenotype	4514	MT-CO3	ORPHA:550
HP:0025354	Abnormal cellular phenotype	4578	MT-TW	ORPHA:550
HP:0025354	Abnormal cellular phenotype	4540	MT-ND5	ORPHA:550
HP:0025354	Abnormal cellular phenotype	4541	MT-ND6	ORPHA:550
HP:0025354	Abnormal cellular phenotype	4535	MT-ND1	ORPHA:550
HP:0025354	Abnormal cellular phenotype	4535	MT-ND1	ORPHA:2609
HP:0025354	Abnormal cellular phenotype	4538	MT-ND4	ORPHA:550
HP:0025354	Abnormal cellular phenotype	4575	MT-TS2	ORPHA:550
HP:0025354	Abnormal cellular phenotype	4564	MT-TH	ORPHA:550
HP:0025354	Abnormal cellular phenotype	54539	NDUFB11	ORPHA:2609
HP:0025354	Abnormal cellular phenotype	25915	NDUFAF3	ORPHA:2609
HP:0025354	Abnormal cellular phenotype	51103	NDUFAF1	ORPHA:2609
HP:0025354	Abnormal cellular phenotype	91942	NDUFAF2	ORPHA:2609
HP:0025354	Abnormal cellular phenotype	51300	TIMMDC1	ORPHA:2609
HP:0025354	Abnormal cellular phenotype	4716	NDUFB10	ORPHA:2609
HP:0025354	Abnormal cellular phenotype	4723	NDUFV1	ORPHA:2609
HP:0025354	Abnormal cellular phenotype	55572	FOXRED1	ORPHA:2609
HP:0025354	Abnormal cellular phenotype	284184	NDUFAF8	ORPHA:2609
HP:0025354	Abnormal cellular phenotype	55863	TMEM126B	ORPHA:2609
HP:0025354	Abnormal cellular phenotype	4537	MT-ND3	ORPHA:2609
HP:0025354	Abnormal cellular phenotype	4729	NDUFV2	ORPHA:2609
HP:0025354	Abnormal cellular phenotype	4694	NDUFA1	ORPHA:2609
HP:0025354	Abnormal cellular phenotype	4720	NDUFS2	ORPHA:2609
HP:0025354	Abnormal cellular phenotype	4724	NDUFS4	ORPHA:2609
HP:0025354	Abnormal cellular phenotype	4726	NDUFS6	ORPHA:2609
HP:0025354	Abnormal cellular phenotype	4728	NDUFS8	ORPHA:2609
HP:0025354	Abnormal cellular phenotype	4722	NDUFS3	ORPHA:2609
HP:0025354	Abnormal cellular phenotype	79133	NDUFAF5	ORPHA:2609
HP:0025354	Abnormal cellular phenotype	126328	NDUFA11	ORPHA:2609
HP:0025354	Abnormal cellular phenotype	4709	NDUFB3	ORPHA:2609
HP:0025354	Abnormal cellular phenotype	80224	NUBPL	ORPHA:2609
HP:0025354	Abnormal cellular phenotype	29078	NDUFAF4	ORPHA:2609
HP:0025354	Abnormal cellular phenotype	374291	NDUFS7	ORPHA:2609
HP:0025354	Abnormal cellular phenotype	4700	NDUFA6	ORPHA:2609
HP:0025354	Abnormal cellular phenotype	4536	MT-ND2	ORPHA:2609
HP:0025354	Abnormal cellular phenotype	4719	NDUFS1	ORPHA:2609
HP:0025354	Abnormal cellular phenotype	4715	NDUFB9	ORPHA:2609
HP:0025354	Abnormal cellular phenotype	4508	MT-ATP6	ORPHA:644
HP:0025354	Abnormal cellular phenotype	10939	AFG3L2	ORPHA:313772
HP:0025354	Abnormal cellular phenotype	6389	SDHA	OMIM:252011
HP:0025354	Abnormal cellular phenotype	4625	MYH7	ORPHA:59135
HP:0025354	Abnormal cellular phenotype	6687	SPG7	ORPHA:99013
HP:0025354	Abnormal cellular phenotype	6901	TAFAZZIN	ORPHA:111
HP:0025354	Abnormal cellular phenotype	6901	TAFAZZIN	OMIM:302060
HP:0025354	Abnormal cellular phenotype	63931	MRPS14	OMIM:618378
HP:0025354	Abnormal cellular phenotype	2521	FUS	ORPHA:275872
HP:0025354	Abnormal cellular phenotype	8878	SQSTM1	ORPHA:275872
HP:0025354	Abnormal cellular phenotype	7415	VCP	ORPHA:275872
HP:0025354	Abnormal cellular phenotype	23435	TARDBP	ORPHA:275872
HP:0025354	Abnormal cellular phenotype	29110	TBK1	ORPHA:275872
HP:0025354	Abnormal cellular phenotype	400916	CHCHD10	ORPHA:275872
HP:0025354	Abnormal cellular phenotype	10128	LRPPRC	OMIM:220111
HP:0025354	Abnormal cellular phenotype	10128	LRPPRC	ORPHA:70472
HP:0025354	Abnormal cellular phenotype	9997	SCO2	OMIM:604377
HP:0025354	Abnormal cellular phenotype	51241	COX16	OMIM:619355
HP:0025354	Abnormal cellular phenotype	80308	FLAD1	OMIM:255100
HP:0025354	Abnormal cellular phenotype	85476	GFM1	OMIM:609060
HP:0025354	Abnormal cellular phenotype	123263	MTFMT	OMIM:614947
HP:0025354	Abnormal cellular phenotype	10102	TSFM	OMIM:610505
HP:0025354	Abnormal cellular phenotype	57176	VARS2	OMIM:615917
HP:0025354	Abnormal cellular phenotype	56945	MRPS22	OMIM:611719
HP:0025354	Abnormal cellular phenotype	6182	MRPL12	OMIM:618951
HP:0025354	Abnormal cellular phenotype	79587	CARS2	ORPHA:477774
HP:0025354	Abnormal cellular phenotype	79587	CARS2	OMIM:616672
HP:0025354	Abnormal cellular phenotype	84340	GFM2	OMIM:618397
HP:0025354	Abnormal cellular phenotype	55278	QRSL1	OMIM:618835
HP:0025354	Abnormal cellular phenotype	57570	TRMT5	OMIM:616539
HP:0025354	Abnormal cellular phenotype	51649	MRPS23	OMIM:618952
HP:0025354	Abnormal cellular phenotype	57038	RARS2	OMIM:611523
HP:0025354	Abnormal cellular phenotype	283459	GATC	OMIM:618839
HP:0025354	Abnormal cellular phenotype	28958	COA3	OMIM:619058
HP:0025354	Abnormal cellular phenotype	54802	TRIT1	OMIM:617873
HP:0025354	Abnormal cellular phenotype	116228	COX20	OMIM:619054
HP:0025354	Abnormal cellular phenotype	100131801	PET100	OMIM:619055
HP:0025354	Abnormal cellular phenotype	63899	NSUN3	OMIM:619012
HP:0025354	Abnormal cellular phenotype	388753	COA6	OMIM:616501
HP:0025354	Abnormal cellular phenotype	29960	MRM2	OMIM:618567
HP:0025354	Abnormal cellular phenotype	708	C1QBP	OMIM:617713
HP:0025354	Abnormal cellular phenotype	91574	MTRFR	OMIM:613559
HP:0025354	Abnormal cellular phenotype	124454	EARS2	OMIM:614924
HP:0025354	Abnormal cellular phenotype	54675	CRLS1	OMIM:620167
HP:0025354	Abnormal cellular phenotype	84334	COA8	OMIM:619061
HP:0025354	Abnormal cellular phenotype	1339	COX6A2	OMIM:619062
HP:0025354	Abnormal cellular phenotype	80324	PUS1	OMIM:600462
HP:0025354	Abnormal cellular phenotype	9377	COX5A	OMIM:619064
HP:0025354	Abnormal cellular phenotype	64432	MRPS25	OMIM:619025
HP:0025354	Abnormal cellular phenotype	57505	AARS2	OMIM:614096
HP:0025354	Abnormal cellular phenotype	29928	TIMM22	OMIM:618851
HP:0025354	Abnormal cellular phenotype	4697	NDUFA4	OMIM:619065
HP:0025354	Abnormal cellular phenotype	115286	SLC25A26	OMIM:616794
HP:0025354	Abnormal cellular phenotype	51067	YARS2	OMIM:613561
HP:0025354	Abnormal cellular phenotype	84705	GTPBP3	OMIM:616198
HP:0025354	Abnormal cellular phenotype	84705	GTPBP3	ORPHA:444013
HP:0025354	Abnormal cellular phenotype	9131	AIFM1	OMIM:300816
HP:0025354	Abnormal cellular phenotype	132001	TAMM41	OMIM:620139
HP:0025354	Abnormal cellular phenotype	51021	MRPS16	OMIM:610498
HP:0025354	Abnormal cellular phenotype	79731	NARS2	OMIM:616239
HP:0025354	Abnormal cellular phenotype	79736	TEFM	OMIM:620451
HP:0025354	Abnormal cellular phenotype	27247	NFU1	OMIM:605711
HP:0025354	Abnormal cellular phenotype	3735	KARS1	OMIM:619147
HP:0025354	Abnormal cellular phenotype	8803	SUCLA2	OMIM:612073
HP:0025354	Abnormal cellular phenotype	2671	GFER	OMIM:613076
HP:0025354	Abnormal cellular phenotype	1468	SLC25A10	OMIM:618972
HP:0025354	Abnormal cellular phenotype	7084	TK2	OMIM:617069
HP:0025354	Abnormal cellular phenotype	7084	TK2	OMIM:609560
HP:0025354	Abnormal cellular phenotype	498	ATP5F1A	OMIM:616045
HP:0025354	Abnormal cellular phenotype	7019	TFAM	OMIM:617156
HP:0025354	Abnormal cellular phenotype	4976	OPA1	OMIM:616896
HP:0025354	Abnormal cellular phenotype	55750	AGK	OMIM:212350
HP:0025354	Abnormal cellular phenotype	9056	SLC7A7	ORPHA:470
HP:0025354	Abnormal cellular phenotype	1493	CTLA4	ORPHA:3162
HP:0025354	Abnormal cellular phenotype	940	CD28	ORPHA:3162
HP:0025354	Abnormal cellular phenotype	7133	TNFRSF1B	ORPHA:3162
HP:0025354	Abnormal cellular phenotype	8517	IKBKG	ORPHA:98813
HP:0025354	Abnormal cellular phenotype	4792	NFKBIA	ORPHA:98813
HP:0025354	Abnormal cellular phenotype	6729	SRP54	OMIM:618752
HP:0025354	Abnormal cellular phenotype	213	ALB	ORPHA:86816
HP:0025354	Abnormal cellular phenotype	727897	MUC5B	OMIM:178500
HP:0025354	Abnormal cellular phenotype	6440	SFTPC	OMIM:178500
HP:0025354	Abnormal cellular phenotype	729238	SFTPA2	OMIM:178500
HP:0025354	Abnormal cellular phenotype	11311	VPS45	OMIM:615285
HP:0025354	Abnormal cellular phenotype	5184	PEPD	OMIM:170100
HP:0025354	Abnormal cellular phenotype	1277	COL1A1	ORPHA:1310
HP:0025354	Abnormal cellular phenotype	64135	IFIH1	OMIM:615846
HP:0025354	Abnormal cellular phenotype	5692	PSMB4	OMIM:617591
HP:0025354	Abnormal cellular phenotype	4733	DRG1	OMIM:620641
HP:0025354	Abnormal cellular phenotype	2629	GBA1	ORPHA:77261
HP:0025354	Abnormal cellular phenotype	2629	GBA1	ORPHA:77259
HP:0025354	Abnormal cellular phenotype	9051	PSTPIP1	ORPHA:69126
HP:0025354	Abnormal cellular phenotype	23064	SETX	OMIM:606002
HP:0025354	Abnormal cellular phenotype	5696	PSMB8	OMIM:256040
HP:0025354	Abnormal cellular phenotype	1991	ELANE	OMIM:202700
HP:0025354	Abnormal cellular phenotype	950	SCARB2	ORPHA:77259
HP:0025354	Abnormal cellular phenotype	10111	RAD50	OMIM:613078
HP:0025354	Abnormal cellular phenotype	7156	TOP3A	OMIM:618097
HP:0025354	Abnormal cellular phenotype	57192	MCOLN1	ORPHA:578
HP:0025354	Abnormal cellular phenotype	57192	MCOLN1	OMIM:252650
HP:0025354	Abnormal cellular phenotype	5286	PIK3C2A	ORPHA:557003
HP:0025354	Abnormal cellular phenotype	8314	BAP1	ORPHA:2495
HP:0025354	Abnormal cellular phenotype	4771	NF2	ORPHA:2495
HP:0025354	Abnormal cellular phenotype	6598	SMARCB1	ORPHA:2495
HP:0025354	Abnormal cellular phenotype	5155	PDGFB	ORPHA:2495
HP:0025354	Abnormal cellular phenotype	84231	TRAF7	ORPHA:2495
HP:0025354	Abnormal cellular phenotype	6608	SMO	ORPHA:2495
HP:0025354	Abnormal cellular phenotype	207	AKT1	ORPHA:2495
HP:0025354	Abnormal cellular phenotype	5290	PIK3CA	ORPHA:2495
HP:0025354	Abnormal cellular phenotype	7015	TERT	ORPHA:2495
HP:0025354	Abnormal cellular phenotype	51684	SUFU	ORPHA:2495
HP:0025354	Abnormal cellular phenotype	6605	SMARCE1	ORPHA:2495
HP:0025354	Abnormal cellular phenotype	165918	RNF168	OMIM:611943
HP:0025354	Abnormal cellular phenotype	56160	NSMCE3	OMIM:617241
HP:0025354	Abnormal cellular phenotype	4361	MRE11	OMIM:604391
HP:0025354	Abnormal cellular phenotype	2625	GATA3	ORPHA:2237
HP:0025354	Abnormal cellular phenotype	3123	HLA-DRB1	OMIM:181000
HP:0025354	Abnormal cellular phenotype	9200	HACD1	OMIM:619967
HP:0025354	Abnormal cellular phenotype	128240	NAXE	OMIM:617186
HP:0025354	Abnormal cellular phenotype	1020	CDK5	OMIM:616342
HP:0025354	Abnormal cellular phenotype	4702	NDUFA8	OMIM:619272
HP:0025354	Abnormal cellular phenotype	4718	NDUFC2	OMIM:619170
HP:0025354	Abnormal cellular phenotype	55967	NDUFA12	OMIM:618244
HP:0025354	Abnormal cellular phenotype	4704	NDUFA9	OMIM:618247
HP:0025354	Abnormal cellular phenotype	55037	PTCD3	OMIM:619057
HP:0025354	Abnormal cellular phenotype	4705	NDUFA10	OMIM:618243
HP:0025354	Abnormal cellular phenotype	51079	NDUFA13	OMIM:618249
HP:0025354	Abnormal cellular phenotype	4714	NDUFB8	OMIM:618252
HP:0025354	Abnormal cellular phenotype	122961	ISCA2	OMIM:616370
HP:0025354	Abnormal cellular phenotype	25828	TXN2	ORPHA:478029
HP:0025354	Abnormal cellular phenotype	25828	TXN2	OMIM:616811
HP:0025354	Abnormal cellular phenotype	60528	ELAC2	OMIM:615440
HP:0025354	Abnormal cellular phenotype	6329	SCN4A	OMIM:620351
HP:0025354	Abnormal cellular phenotype	4713	NDUFB7	OMIM:620135
HP:0025354	Abnormal cellular phenotype	27089	UQCRQ	OMIM:615159
HP:0025354	Abnormal cellular phenotype	54902	TTC19	OMIM:615157
HP:0025354	Abnormal cellular phenotype	7381	UQCRB	OMIM:615158
HP:0025354	Abnormal cellular phenotype	25821	MTO1	OMIM:614702
HP:0025354	Abnormal cellular phenotype	90624	LYRM7	OMIM:615838
HP:0025354	Abnormal cellular phenotype	617	BCS1L	OMIM:124000
HP:0025354	Abnormal cellular phenotype	1537	CYC1	OMIM:615453
HP:0025354	Abnormal cellular phenotype	790955	UQCC3	OMIM:616111
HP:0025354	Abnormal cellular phenotype	7388	UQCRH	OMIM:620137
HP:0025354	Abnormal cellular phenotype	54968	TMEM70	OMIM:614052
HP:0025354	Abnormal cellular phenotype	513	ATP5F1D	OMIM:618120
HP:0025354	Abnormal cellular phenotype	514	ATP5F1E	OMIM:614053
HP:0025354	Abnormal cellular phenotype	92609	TIMM50	ORPHA:505216
HP:0025354	Abnormal cellular phenotype	91647	ATPAF2	OMIM:604273
HP:0025354	Abnormal cellular phenotype	4312	MMP1	ORPHA:79408
HP:0025354	Abnormal cellular phenotype	56947	MFF	ORPHA:485421
HP:0025354	Abnormal cellular phenotype	8802	SUCLG1	ORPHA:17
HP:0025354	Abnormal cellular phenotype	2232	FDXR	ORPHA:543470
HP:0025354	Abnormal cellular phenotype	291	SLC25A4	ORPHA:254892
HP:0025354	Abnormal cellular phenotype	56652	TWNK	ORPHA:254892
HP:0025354	Abnormal cellular phenotype	11232	POLG2	ORPHA:254892
HP:0025354	Abnormal cellular phenotype	10059	DNM1L	ORPHA:330050
HP:0025354	Abnormal cellular phenotype	5250	SLC25A3	ORPHA:91130
HP:0025354	Abnormal cellular phenotype	10020	GNE	ORPHA:3166
HP:0025354	Abnormal cellular phenotype	5830	PEX5	OMIM:214110
HP:0025354	Abnormal cellular phenotype	5277	PIGA	OMIM:300868
HP:0025354	Abnormal cellular phenotype	6813	STXBP2	OMIM:613101
HP:0025354	Abnormal cellular phenotype	5551	PRF1	ORPHA:540
HP:0025354	Abnormal cellular phenotype	5551	PRF1	OMIM:603553
HP:0025354	Abnormal cellular phenotype	8676	STX11	ORPHA:540
HP:0025354	Abnormal cellular phenotype	201294	UNC13D	ORPHA:540
HP:0025354	Abnormal cellular phenotype	201294	UNC13D	OMIM:608898
HP:0025354	Abnormal cellular phenotype	58484	NLRC4	OMIM:616050
HP:0025354	Abnormal cellular phenotype	7456	WIPF1	OMIM:614493
HP:0025354	Abnormal cellular phenotype	5580	PRKCD	OMIM:615559
HP:0025354	Abnormal cellular phenotype	2214	FCGR3A	OMIM:615707
HP:0025354	Abnormal cellular phenotype	4068	SH2D1A	OMIM:308240
HP:0025354	Abnormal cellular phenotype	331	XIAP	OMIM:308240
HP:0025354	Abnormal cellular phenotype	8546	AP3B1	OMIM:608233
HP:0025354	Abnormal cellular phenotype	494551	WEE2	ORPHA:488191
HP:0025354	Abnormal cellular phenotype	197135	PATL2	ORPHA:488191
HP:0025354	Abnormal cellular phenotype	347688	TUBB8	ORPHA:488191
HP:0025354	Abnormal cellular phenotype	7783	ZP2	OMIM:618353
HP:0025354	Abnormal cellular phenotype	9493	KIF23	ORPHA:98870
HP:0025354	Abnormal cellular phenotype	29127	RACGAP1	ORPHA:98870
HP:0025354	Abnormal cellular phenotype	4000	LMNA	ORPHA:1662
HP:0025354	Abnormal cellular phenotype	10269	ZMPSTE24	ORPHA:1662
HP:0025354	Abnormal cellular phenotype	50674	NEUROG3	ORPHA:83620
HP:0025354	Abnormal cellular phenotype	5428	POLG	ORPHA:298
HP:0025354	Abnormal cellular phenotype	1890	TYMP	ORPHA:298
HP:0025354	Abnormal cellular phenotype	3980	LIG3	ORPHA:298
HP:0025354	Abnormal cellular phenotype	50484	RRM2B	ORPHA:298
HP:0025354	Abnormal cellular phenotype	65998	ZFTA	ORPHA:251636
HP:0025354	Abnormal cellular phenotype	6311	ATXN2	ORPHA:98756
HP:0025354	Abnormal cellular phenotype	3937	LCP2	OMIM:619374
HP:0025354	Abnormal cellular phenotype	4358	MPV17	OMIM:256810
HP:0025354	Abnormal cellular phenotype	26235	FBXL4	OMIM:615471
HP:0025354	Abnormal cellular phenotype	4703	NEB	OMIM:256030
HP:0025354	Abnormal cellular phenotype	7273	TTN	OMIM:611705
HP:0025354	Abnormal cellular phenotype	27040	LAT	OMIM:617514
HP:0025354	Abnormal cellular phenotype	57591	MRTFA	OMIM:618847
HP:0025354	Abnormal cellular phenotype	1503	CTPS1	OMIM:615897
HP:0025354	Abnormal cellular phenotype	3978	LIG1	OMIM:619774
HP:0025354	Abnormal cellular phenotype	7040	TGFB1	OMIM:618213
HP:0025354	Abnormal cellular phenotype	2271	FH	OMIM:606812
HP:0025354	Abnormal cellular phenotype	79784	MYH14	ORPHA:397744
HP:0025354	Abnormal cellular phenotype	57128	LYRM4	OMIM:615595
HP:0025354	Abnormal cellular phenotype	355	FAS	ORPHA:3261
HP:0025354	Abnormal cellular phenotype	356	FASLG	ORPHA:3261
HP:0025354	Abnormal cellular phenotype	843	CASP10	ORPHA:3261
HP:0025354	Abnormal cellular phenotype	7414	VCL	OMIM:613255
HP:0025354	Abnormal cellular phenotype	7137	TNNI3	OMIM:611880
HP:0025354	Abnormal cellular phenotype	57538	ALPK3	OMIM:618052
HP:0025354	Abnormal cellular phenotype	70	ACTC1	OMIM:613424
HP:0025354	Abnormal cellular phenotype	1832	DSP	OMIM:605676
HP:0025354	Abnormal cellular phenotype	88	ACTN2	OMIM:612158
HP:0025354	Abnormal cellular phenotype	54800	KLHL24	OMIM:620236
HP:0025354	Abnormal cellular phenotype	2992	GYG1	ORPHA:263297
HP:0025354	Abnormal cellular phenotype	2992	GYG1	OMIM:613507
HP:0025354	Abnormal cellular phenotype	22845	DOLK	ORPHA:91131
HP:0025354	Abnormal cellular phenotype	493753	COA5	OMIM:616500
HP:0025354	Abnormal cellular phenotype	779	CACNA1S	ORPHA:423
HP:0025354	Abnormal cellular phenotype	6261	RYR1	ORPHA:423
HP:0025354	Abnormal cellular phenotype	57104	PNPLA2	ORPHA:565612
HP:0025354	Abnormal cellular phenotype	7139	TNNT2	OMIM:612422
HP:0025354	Abnormal cellular phenotype	442721	LMOD2	OMIM:619897
HP:0025354	Abnormal cellular phenotype	50619	DEF6	OMIM:619573
HP:0025354	Abnormal cellular phenotype	5966	REL	OMIM:619652
HP:0025354	Abnormal cellular phenotype	2137	EXTL3	ORPHA:508533
HP:0025354	Abnormal cellular phenotype	3561	IL2RG	ORPHA:276
HP:0025354	Abnormal cellular phenotype	6850	SYK	OMIM:619381
HP:0025354	Abnormal cellular phenotype	3575	IL7R	ORPHA:169154
HP:0025354	Abnormal cellular phenotype	4247	MGAT2	ORPHA:79329
HP:0025354	Abnormal cellular phenotype	915	CD3D	ORPHA:169160
HP:0025354	Abnormal cellular phenotype	916	CD3E	ORPHA:169160
HP:0025354	Abnormal cellular phenotype	919	CD247	ORPHA:169160
HP:0025354	Abnormal cellular phenotype	5994	RFXAP	ORPHA:572
HP:0025354	Abnormal cellular phenotype	4261	CIITA	ORPHA:572
HP:0025354	Abnormal cellular phenotype	5993	RFX5	ORPHA:572
HP:0025354	Abnormal cellular phenotype	8625	RFXANK	ORPHA:572
HP:0025354	Abnormal cellular phenotype	3551	IKBKB	OMIM:615592
HP:0025354	Abnormal cellular phenotype	939	CD27	OMIM:615122
HP:0025354	Abnormal cellular phenotype	5699	PSMB10	OMIM:620807
HP:0025354	Abnormal cellular phenotype	5896	RAG1	ORPHA:331206
HP:0025354	Abnormal cellular phenotype	5897	RAG2	ORPHA:331206
HP:0025354	Abnormal cellular phenotype	10125	RASGRP1	OMIM:618534
HP:0025354	Abnormal cellular phenotype	8456	FOXN1	ORPHA:83471
HP:0025354	Abnormal cellular phenotype	7535	ZAP70	ORPHA:911
HP:0025354	Abnormal cellular phenotype	5293	PIK3CD	ORPHA:221139
HP:0025354	Abnormal cellular phenotype	90417	KNSTRN	ORPHA:221139
HP:0025354	Abnormal cellular phenotype	10892	MALT1	OMIM:615468
HP:0025354	Abnormal cellular phenotype	3604	TNFRSF9	OMIM:620282
HP:0025354	Abnormal cellular phenotype	5880	RAC2	OMIM:618986
HP:0025354	Abnormal cellular phenotype	6772	STAT1	OMIM:614162
HP:0025354	Abnormal cellular phenotype	3559	IL2RA	OMIM:606367
HP:0025354	Abnormal cellular phenotype	55388	MCM10	OMIM:619313
HP:0025354	Abnormal cellular phenotype	55719	SLF2	OMIM:620184
HP:0025354	Abnormal cellular phenotype	1794	DOCK2	OMIM:616433
HP:0025354	Abnormal cellular phenotype	5238	PGM3	ORPHA:443811
HP:0025354	Abnormal cellular phenotype	55072	RNF31	OMIM:620632
HP:0025354	Abnormal cellular phenotype	84433	CARD11	OMIM:615206
HP:0025354	Abnormal cellular phenotype	50485	SMARCAL1	ORPHA:1830
HP:0025354	Abnormal cellular phenotype	23765	IL17RA	OMIM:613953
HP:0025354	Abnormal cellular phenotype	7298	TYMS	OMIM:620040
HP:0025354	Abnormal cellular phenotype	26277	TINF2	OMIM:268130
HP:0025354	Abnormal cellular phenotype	26277	TINF2	OMIM:613990
HP:0025354	Abnormal cellular phenotype	51750	RTEL1	OMIM:616373
HP:0025354	Abnormal cellular phenotype	55596	ZCCHC8	OMIM:618674
HP:0025354	Abnormal cellular phenotype	5073	PARN	OMIM:616371
HP:0025354	Abnormal cellular phenotype	5073	PARN	OMIM:616353
HP:0025354	Abnormal cellular phenotype	65057	ACD	OMIM:616553
HP:0025354	Abnormal cellular phenotype	7157	TP53	OMIM:618165
HP:0025354	Abnormal cellular phenotype	4194	MDM4	OMIM:618849
HP:0025354	Abnormal cellular phenotype	6117	RPA1	OMIM:619767
HP:0025354	Abnormal cellular phenotype	55505	NOP10	OMIM:620400
HP:0025354	Abnormal cellular phenotype	25913	POT1	OMIM:620367
HP:0025354	Abnormal cellular phenotype	55135	WRAP53	OMIM:613988
HP:0025354	Abnormal cellular phenotype	93183	PIGM	OMIM:610293
HP:0025354	Abnormal cellular phenotype	24145	PANX1	OMIM:618550
HP:0025354	Abnormal cellular phenotype	9453	GGPS1	OMIM:619518
HP:0025354	Abnormal cellular phenotype	1120	CHKB	OMIM:602541
HP:0025354	Abnormal cellular phenotype	6123	RPL3L	OMIM:619371
HP:0025354	Abnormal cellular phenotype	5190	PEX6	OMIM:614862
HP:0025354	Abnormal cellular phenotype	410	ARSA	OMIM:250100
HP:0025354	Abnormal cellular phenotype	51293	CD320	OMIM:613646
HP:0025354	Abnormal cellular phenotype	134218	DNAJC21	OMIM:617052
HP:0025354	Abnormal cellular phenotype	4173	MCM4	OMIM:609981
HP:0025354	Abnormal cellular phenotype	1763	DNA2	ORPHA:352470
HP:0025354	Abnormal cellular phenotype	92667	MGME1	ORPHA:352447
HP:0025354	Abnormal cellular phenotype	119559	SFXN4	OMIM:615578
HP:0025354	Abnormal cellular phenotype	100303755	PET117	OMIM:619063
HP:0025354	Abnormal cellular phenotype	427	ASAH1	OMIM:228000
HP:0025354	Abnormal cellular phenotype	10026	PIGK	OMIM:618879
HP:0025354	Abnormal cellular phenotype	917	CD3G	OMIM:615607
HP:0025354	Abnormal cellular phenotype	3030	HADHA	OMIM:609016
HP:0025354	Abnormal cellular phenotype	7248	TSC1	OMIM:191100
HP:0025354	Abnormal cellular phenotype	701	BUB1B	OMIM:176430
HP:0025354	Abnormal cellular phenotype	701	BUB1B	OMIM:257300
HP:0025354	Abnormal cellular phenotype	9319	TRIP13	OMIM:617598
HP:0025354	Abnormal cellular phenotype	1593	CYP27A1	ORPHA:909
HP:0025354	Abnormal cellular phenotype	87178	PNPT1	ORPHA:319514
HP:0025354	Abnormal cellular phenotype	84277	DNAJC30	ORPHA:104
HP:0025354	Abnormal cellular phenotype	4519	MT-CYB	ORPHA:104
HP:0025354	Abnormal cellular phenotype	4539	MT-ND4L	ORPHA:104
HP:0025354	Abnormal cellular phenotype	5495	PPM1B	ORPHA:163693
HP:0025354	Abnormal cellular phenotype	6519	SLC3A1	ORPHA:163693
HP:0025354	Abnormal cellular phenotype	9581	PREPL	ORPHA:163693
HP:0025354	Abnormal cellular phenotype	79823	CAMKMT	ORPHA:163693
HP:0025354	Abnormal cellular phenotype	567	B2M	OMIM:241600
HP:0025354	Abnormal cellular phenotype	79087	ALG12	ORPHA:79324
HP:0025354	Abnormal cellular phenotype	6773	STAT2	OMIM:616636
HP:0025354	Abnormal cellular phenotype	4067	LYN	OMIM:620376
HP:0025354	Abnormal cellular phenotype	3394	IRF8	OMIM:226990
HP:0025354	Abnormal cellular phenotype	51371	POMP	OMIM:618048
HP:0025354	Abnormal cellular phenotype	55343	SLC35C1	ORPHA:99843
HP:0025354	Abnormal cellular phenotype	11151	CORO1A	OMIM:615401
HP:0025354	Abnormal cellular phenotype	81858	SHARPIN	OMIM:620795
HP:0025354	Abnormal cellular phenotype	54790	TET2	OMIM:619126
HP:0025354	Abnormal cellular phenotype	4864	NPC1	OMIM:257220
HP:0025354	Abnormal cellular phenotype	3514	IGKC	OMIM:614102
HP:0025354	Abnormal cellular phenotype	22917	ZP1	OMIM:615774
HP:0025355	Retinal arterial macroaneurysms	3490	IGFBP7	OMIM:614224
HP:0025357	Erratic myoclonus	10749	KIF1C	ORPHA:397946
HP:0025357	Erratic myoclonus	535	ATP6V0A1	OMIM:619971
HP:0025357	Erratic myoclonus	378884	NHLRC1	ORPHA:501
HP:0025357	Erratic myoclonus	7957	EPM2A	ORPHA:501
HP:0025357	Erratic myoclonus	170302	ARX	OMIM:308350
HP:0025358	Uveal ectropion	58495	OVOL2	OMIM:122000
HP:0025358	Uveal ectropion	58495	OVOL2	ORPHA:98973
HP:0025358	Uveal ectropion	27151	CPAMD8	OMIM:617319
HP:0025358	Uveal ectropion	3913	LAMB2	OMIM:609049
HP:0025358	Uveal ectropion	6935	ZEB1	ORPHA:98973
HP:0025358	Uveal ectropion	30813	VSX1	ORPHA:98973
HP:0025358	Uveal ectropion	79977	GRHL2	ORPHA:98973
HP:0025358	Uveal ectropion	1296	COL8A2	ORPHA:98973
HP:0030657	Umbilical cord hematoma	2165	F13B	ORPHA:331
HP:0030657	Umbilical cord hematoma	2162	F13A1	ORPHA:331
HP:0030657	Umbilical cord hematoma	5054	SERPINE1	ORPHA:465
HP:0004523	Long eyebrows	11253	MAN1B1	OMIM:614202
HP:0004523	Long eyebrows	11253	MAN1B1	ORPHA:397941
HP:0004523	Long eyebrows	4893	NRAS	OMIM:613224
HP:0004523	Long eyebrows	23013	SPEN	OMIM:619312
HP:0005338	Sparse lateral eyebrow	3981	LIG4	ORPHA:235
HP:0005338	Sparse lateral eyebrow	54888	NSUN2	ORPHA:235
HP:0005338	Sparse lateral eyebrow	8367	H4C5	OMIM:619950
HP:0005338	Sparse lateral eyebrow	126695	KDF1	OMIM:617337
HP:0005338	Sparse lateral eyebrow	80232	WDR26	OMIM:617616
HP:0005338	Sparse lateral eyebrow	80232	WDR26	ORPHA:513456
HP:0005338	Sparse lateral eyebrow	128178	EDARADD	OMIM:614941
HP:0005338	Sparse lateral eyebrow	5361	PLXNA1	OMIM:619955
HP:0005338	Sparse lateral eyebrow	79650	USB1	OMIM:604173
HP:0005338	Sparse lateral eyebrow	57511	COG6	ORPHA:363523
HP:0005338	Sparse lateral eyebrow	9578	CDC42BPB	OMIM:619841
HP:0005338	Sparse lateral eyebrow	10026	PIGK	OMIM:618879
HP:0005338	Sparse lateral eyebrow	51111	KMT5B	OMIM:617788
HP:0005338	Sparse lateral eyebrow	8085	KMT2D	ORPHA:2322
HP:0005338	Sparse lateral eyebrow	8085	KMT2D	OMIM:147920
HP:0005338	Sparse lateral eyebrow	7403	KDM6A	ORPHA:2322
HP:0005338	Sparse lateral eyebrow	7403	KDM6A	OMIM:300867
HP:0005338	Sparse lateral eyebrow	7403	KDM6A	OMIM:147920
HP:0005338	Sparse lateral eyebrow	5500	PPP1CB	OMIM:617506
HP:0005338	Sparse lateral eyebrow	79971	WLS	OMIM:619648
HP:0005338	Sparse lateral eyebrow	5818	NECTIN1	ORPHA:3253
HP:0005338	Sparse lateral eyebrow	112802	KRT71	ORPHA:170
HP:0005338	Sparse lateral eyebrow	121391	KRT74	ORPHA:170
HP:0005338	Sparse lateral eyebrow	200879	LIPH	ORPHA:170
HP:0005338	Sparse lateral eyebrow	10161	LPAR6	ORPHA:170
HP:0005338	Sparse lateral eyebrow	147183	KRT25	ORPHA:170
HP:0005338	Sparse lateral eyebrow	10084	PQBP1	OMIM:309500
HP:0005338	Sparse lateral eyebrow	3190	HNRNPK	OMIM:616580
HP:0005338	Sparse lateral eyebrow	92255	LMBRD2	OMIM:619694
HP:0005338	Sparse lateral eyebrow	10265	IRX5	OMIM:611174
HP:0005338	Sparse lateral eyebrow	11253	MAN1B1	OMIM:614202
HP:0005338	Sparse lateral eyebrow	9487	PIGL	OMIM:280000
HP:0005338	Sparse lateral eyebrow	545	ATR	OMIM:614564
HP:0005338	Sparse lateral eyebrow	23184	MESD	OMIM:618644
HP:0005338	Sparse lateral eyebrow	117581	TWIST2	ORPHA:1807
HP:0005338	Sparse lateral eyebrow	6926	TBX3	OMIM:181450
HP:0005338	Sparse lateral eyebrow	10524	KAT5	OMIM:619103
HP:0005338	Sparse lateral eyebrow	341208	HEPHL1	OMIM:261990
HP:0005338	Sparse lateral eyebrow	7227	TRPS1	OMIM:190350
HP:0005338	Sparse lateral eyebrow	7227	TRPS1	OMIM:190351
HP:0005338	Sparse lateral eyebrow	5813	PURA	ORPHA:314655
HP:0004529	Atrophic, patchy alopecia	8517	IKBKG	OMIM:308300
HP:0004529	Atrophic, patchy alopecia	1308	COL17A1	ORPHA:251393
HP:0004529	Atrophic, patchy alopecia	3691	ITGB4	ORPHA:251393
HP:0004527	Large clumps of pigment irregularly distributed along hair shaft	1130	LYST	ORPHA:167
HP:0004527	Large clumps of pigment irregularly distributed along hair shaft	79083	MLPH	OMIM:609227
HP:0004527	Large clumps of pigment irregularly distributed along hair shaft	4644	MYO5A	OMIM:214450
HP:0004524	Temporal hypotrichosis	3891	KRT85	OMIM:602032
HP:0004510	Pancreatic islet-cell hyperplasia	3930	LBR	OMIM:215140
HP:0004510	Pancreatic islet-cell hyperplasia	6566	SLC16A1	OMIM:610021
HP:0004510	Pancreatic islet-cell hyperplasia	129563	DIS3L2	OMIM:267000
HP:0004510	Pancreatic islet-cell hyperplasia	3767	KCNJ11	OMIM:601820
HP:0004510	Pancreatic islet-cell hyperplasia	3172	HNF4A	ORPHA:263455
HP:0004510	Pancreatic islet-cell hyperplasia	2719	GPC3	OMIM:312870
HP:0004510	Pancreatic islet-cell hyperplasia	2719	GPC3	ORPHA:373
HP:0004510	Pancreatic islet-cell hyperplasia	2239	GPC4	OMIM:312870
HP:0004510	Pancreatic islet-cell hyperplasia	2239	GPC4	ORPHA:373
HP:0004510	Pancreatic islet-cell hyperplasia	2184	FAH	OMIM:276700
HP:0004510	Pancreatic islet-cell hyperplasia	6833	ABCC8	OMIM:256450
HP:0004510	Pancreatic islet-cell hyperplasia	3643	INSR	OMIM:246200
HP:0004510	Pancreatic islet-cell hyperplasia	7351	UCP2	ORPHA:276556
HP:0004510	Pancreatic islet-cell hyperplasia	2642	GCGR	OMIM:619290
HP:0025361	Abnormal medullary pyramid morphology	9361	LONP1	ORPHA:79243
HP:0025361	Abnormal medullary pyramid morphology	5160	PDHA1	ORPHA:79243
HP:0025368	Abnormal growth plate morphology	1300	COL10A1	ORPHA:174
HP:0025368	Abnormal growth plate morphology	5251	PHEX	ORPHA:89936
HP:0025368	Abnormal growth plate morphology	4322	MMP13	ORPHA:93356
HP:0025369	Thick growth plates	1300	COL10A1	ORPHA:174
HP:0025369	Thick growth plates	5251	PHEX	ORPHA:89936
HP:0025369	Thick growth plates	4322	MMP13	ORPHA:93356
HP:0030666	Retinal neovascularization	726	CAPN5	OMIM:193235
HP:0030666	Retinal neovascularization	8322	FZD4	OMIM:133780
HP:0030666	Retinal neovascularization	8322	FZD4	ORPHA:891
HP:0030666	Retinal neovascularization	4041	LRP5	OMIM:133780
HP:0030666	Retinal neovascularization	4041	LRP5	ORPHA:891
HP:0030666	Retinal neovascularization	2615	LRRC32	OMIM:619074
HP:0030666	Retinal neovascularization	7439	BEST1	OMIM:193220
HP:0030666	Retinal neovascularization	4693	NDP	ORPHA:891
HP:0030666	Retinal neovascularization	4693	NDP	OMIM:305390
HP:0030666	Retinal neovascularization	1499	CTNNB1	ORPHA:891
HP:0030666	Retinal neovascularization	23554	TSPAN12	ORPHA:891
HP:0030666	Retinal neovascularization	79797	ZNF408	ORPHA:891
HP:0030666	Retinal neovascularization	11277	TREX1	ORPHA:247691
HP:0030667	Peripheral retinal neovascularization	726	CAPN5	OMIM:193235
HP:0030664	Beevor's sign	2483	FRG1	OMIM:158900
HP:0030664	Beevor's sign	2483	FRG1	ORPHA:269
HP:0030664	Beevor's sign	23347	SMCHD1	OMIM:158901
HP:0030664	Beevor's sign	23347	SMCHD1	ORPHA:269
HP:0030664	Beevor's sign	22947	DUX4L1	ORPHA:269
HP:0030664	Beevor's sign	1789	DNMT3B	ORPHA:269
HP:0030664	Beevor's sign	100288687	DUX4	ORPHA:269
HP:0030663	Optically empty vitreous	3769	KCNJ13	OMIM:193230
HP:0030663	Optically empty vitreous	1280	COL2A1	OMIM:609508
HP:0030663	Optically empty vitreous	1462	VCAN	OMIM:143200
HP:0030669	Abnormal ocular adnexa morphology	1718	DHCR24	OMIM:602398
HP:0030669	Abnormal ocular adnexa morphology	1718	DHCR24	ORPHA:35107
HP:0030669	Abnormal ocular adnexa morphology	26235	FBXL4	OMIM:615471
HP:0030669	Abnormal ocular adnexa morphology	1139	CHRNA7	ORPHA:199318
HP:0030669	Abnormal ocular adnexa morphology	23019	CNOT1	OMIM:618500
HP:0030669	Abnormal ocular adnexa morphology	8216	LZTR1	OMIM:616564
HP:0030669	Abnormal ocular adnexa morphology	8216	LZTR1	OMIM:605275
HP:0030669	Abnormal ocular adnexa morphology	23135	KDM6B	OMIM:618505
HP:0030669	Abnormal ocular adnexa morphology	6659	SOX4	OMIM:618506
HP:0030669	Abnormal ocular adnexa morphology	6228	RPS23	OMIM:617412
HP:0030669	Abnormal ocular adnexa morphology	7360	UGP2	OMIM:618744
HP:0030669	Abnormal ocular adnexa morphology	51	ACOX1	ORPHA:2971
HP:0030669	Abnormal ocular adnexa morphology	51	ACOX1	OMIM:264470
HP:0030669	Abnormal ocular adnexa morphology	1836	SLC26A2	ORPHA:56304
HP:0030669	Abnormal ocular adnexa morphology	80816	ASXL3	OMIM:615485
HP:0030669	Abnormal ocular adnexa morphology	1855	DVL1	OMIM:616331
HP:0030669	Abnormal ocular adnexa morphology	1855	DVL1	OMIM:180700
HP:0030669	Abnormal ocular adnexa morphology	1855	DVL1	ORPHA:3107
HP:0030669	Abnormal ocular adnexa morphology	283489	CHAMP1	OMIM:616579
HP:0030669	Abnormal ocular adnexa morphology	24142	NAA80	OMIM:620830
HP:0030669	Abnormal ocular adnexa morphology	10084	PQBP1	ORPHA:93947
HP:0030669	Abnormal ocular adnexa morphology	10084	PQBP1	OMIM:309500
HP:0030669	Abnormal ocular adnexa morphology	79158	GNPTAB	OMIM:252500
HP:0030669	Abnormal ocular adnexa morphology	79158	GNPTAB	ORPHA:576
HP:0030669	Abnormal ocular adnexa morphology	79158	GNPTAB	ORPHA:423461
HP:0030669	Abnormal ocular adnexa morphology	55636	CHD7	ORPHA:138
HP:0030669	Abnormal ocular adnexa morphology	9723	SEMA3E	ORPHA:138
HP:0030669	Abnormal ocular adnexa morphology	6023	RMRP	ORPHA:175
HP:0030669	Abnormal ocular adnexa morphology	57589	RIC1	OMIM:618761
HP:0030669	Abnormal ocular adnexa morphology	54453	RIN2	OMIM:613075
HP:0030669	Abnormal ocular adnexa morphology	7994	KAT6A	ORPHA:457193
HP:0030669	Abnormal ocular adnexa morphology	7994	KAT6A	OMIM:616268
HP:0030669	Abnormal ocular adnexa morphology	81857	MED25	ORPHA:464738
HP:0030669	Abnormal ocular adnexa morphology	81857	MED25	OMIM:616449
HP:0030669	Abnormal ocular adnexa morphology	2697	GJA1	ORPHA:2710
HP:0030669	Abnormal ocular adnexa morphology	2697	GJA1	OMIM:164200
HP:0030669	Abnormal ocular adnexa morphology	2697	GJA1	OMIM:257850
HP:0030669	Abnormal ocular adnexa morphology	9401	RECQL4	OMIM:218600
HP:0030669	Abnormal ocular adnexa morphology	9401	RECQL4	OMIM:268400
HP:0030669	Abnormal ocular adnexa morphology	9401	RECQL4	ORPHA:1225
HP:0030669	Abnormal ocular adnexa morphology	10087	CERT1	OMIM:616351
HP:0030669	Abnormal ocular adnexa morphology	57231	SNX14	OMIM:616354
HP:0030669	Abnormal ocular adnexa morphology	80776	B9D2	OMIM:614175
HP:0030669	Abnormal ocular adnexa morphology	8036	SHOC2	ORPHA:2701
HP:0030669	Abnormal ocular adnexa morphology	8036	SHOC2	OMIM:607721
HP:0030669	Abnormal ocular adnexa morphology	5500	PPP1CB	ORPHA:2701
HP:0030669	Abnormal ocular adnexa morphology	5500	PPP1CB	OMIM:617506
HP:0030669	Abnormal ocular adnexa morphology	5813	PURA	ORPHA:438216
HP:0030669	Abnormal ocular adnexa morphology	3340	NDST1	OMIM:616116
HP:0030669	Abnormal ocular adnexa morphology	11193	WBP4	OMIM:620852
HP:0030669	Abnormal ocular adnexa morphology	89910	UBE3B	ORPHA:2707
HP:0030669	Abnormal ocular adnexa morphology	89910	UBE3B	OMIM:244450
HP:0030669	Abnormal ocular adnexa morphology	26834	RNU4-2	OMIM:620851
HP:0030669	Abnormal ocular adnexa morphology	54345	SOX18	OMIM:137940
HP:0030669	Abnormal ocular adnexa morphology	1186	CLCN7	OMIM:618541
HP:0030669	Abnormal ocular adnexa morphology	26038	CHD5	OMIM:619873
HP:0030669	Abnormal ocular adnexa morphology	23126	POGZ	OMIM:616364
HP:0030669	Abnormal ocular adnexa morphology	8558	CDK10	OMIM:617694
HP:0030669	Abnormal ocular adnexa morphology	3098	HK1	OMIM:618547
HP:0030669	Abnormal ocular adnexa morphology	5979	RET	ORPHA:1848
HP:0030669	Abnormal ocular adnexa morphology	8516	ITGA8	ORPHA:1848
HP:0030669	Abnormal ocular adnexa morphology	26281	FGF20	ORPHA:1848
HP:0030669	Abnormal ocular adnexa morphology	2674	GFRA1	ORPHA:1848
HP:0030669	Abnormal ocular adnexa morphology	7484	WNT9B	ORPHA:1848
HP:0030669	Abnormal ocular adnexa morphology	80000	GREB1L	ORPHA:1848
HP:0030669	Abnormal ocular adnexa morphology	2736	GLI2	OMIM:610829
HP:0030669	Abnormal ocular adnexa morphology	5605	MAP2K2	OMIM:615280
HP:0030669	Abnormal ocular adnexa morphology	5605	MAP2K2	ORPHA:1340
HP:0030669	Abnormal ocular adnexa morphology	54828	BCAS3	OMIM:619641
HP:0030669	Abnormal ocular adnexa morphology	56098	PCDHGC4	OMIM:619880
HP:0030669	Abnormal ocular adnexa morphology	7358	UGDH	OMIM:618792
HP:0030669	Abnormal ocular adnexa morphology	113179	ADAT3	OMIM:615286
HP:0030669	Abnormal ocular adnexa morphology	113179	ADAT3	ORPHA:363528
HP:0030669	Abnormal ocular adnexa morphology	79633	FAT4	ORPHA:314679
HP:0030669	Abnormal ocular adnexa morphology	79633	FAT4	ORPHA:2136
HP:0030669	Abnormal ocular adnexa morphology	79633	FAT4	OMIM:616006
HP:0030669	Abnormal ocular adnexa morphology	79633	FAT4	OMIM:615546
HP:0030669	Abnormal ocular adnexa morphology	8642	DCHS1	ORPHA:314679
HP:0030669	Abnormal ocular adnexa morphology	8642	DCHS1	OMIM:601390
HP:0030669	Abnormal ocular adnexa morphology	2324	FLT4	ORPHA:79452
HP:0030669	Abnormal ocular adnexa morphology	9780	PIEZO1	ORPHA:79452
HP:0030669	Abnormal ocular adnexa morphology	9780	PIEZO1	OMIM:616843
HP:0030669	Abnormal ocular adnexa morphology	285	ANGPT2	ORPHA:79452
HP:0030669	Abnormal ocular adnexa morphology	57165	GJC2	ORPHA:79452
HP:0030669	Abnormal ocular adnexa morphology	5727	PTCH1	ORPHA:377
HP:0030669	Abnormal ocular adnexa morphology	5727	PTCH1	ORPHA:77301
HP:0030669	Abnormal ocular adnexa morphology	8643	PTCH2	ORPHA:377
HP:0030669	Abnormal ocular adnexa morphology	51684	SUFU	ORPHA:377
HP:0030669	Abnormal ocular adnexa morphology	2239	GPC4	ORPHA:373
HP:0030669	Abnormal ocular adnexa morphology	2239	GPC4	OMIM:312870
HP:0030669	Abnormal ocular adnexa morphology	2239	GPC4	ORPHA:2662
HP:0030669	Abnormal ocular adnexa morphology	2719	GPC3	ORPHA:373
HP:0030669	Abnormal ocular adnexa morphology	2719	GPC3	OMIM:312870
HP:0030669	Abnormal ocular adnexa morphology	8565	YARS1	OMIM:619418
HP:0030669	Abnormal ocular adnexa morphology	84168	ANTXR1	OMIM:230740
HP:0030669	Abnormal ocular adnexa morphology	23499	MACF1	OMIM:618325
HP:0030669	Abnormal ocular adnexa morphology	374969	SVBP	OMIM:618569
HP:0030669	Abnormal ocular adnexa morphology	51322	WAC	ORPHA:466950
HP:0030669	Abnormal ocular adnexa morphology	6138	RPL15	ORPHA:124
HP:0030669	Abnormal ocular adnexa morphology	6224	RPS20	ORPHA:124
HP:0030669	Abnormal ocular adnexa morphology	6165	RPL35A	ORPHA:124
HP:0030669	Abnormal ocular adnexa morphology	6132	RPL8	ORPHA:124
HP:0030669	Abnormal ocular adnexa morphology	6223	RPS19	ORPHA:124
HP:0030669	Abnormal ocular adnexa morphology	6223	RPS19	OMIM:105650
HP:0030669	Abnormal ocular adnexa morphology	6232	RPS27	ORPHA:124
HP:0030669	Abnormal ocular adnexa morphology	55027	HEATR3	ORPHA:124
HP:0030669	Abnormal ocular adnexa morphology	6160	RPL31	ORPHA:124
HP:0030669	Abnormal ocular adnexa morphology	6201	RPS7	ORPHA:124
HP:0030669	Abnormal ocular adnexa morphology	6155	RPL27	ORPHA:124
HP:0030669	Abnormal ocular adnexa morphology	6234	RPS28	ORPHA:124
HP:0030669	Abnormal ocular adnexa morphology	6234	RPS28	OMIM:606164
HP:0030669	Abnormal ocular adnexa morphology	6135	RPL11	ORPHA:124
HP:0030669	Abnormal ocular adnexa morphology	6229	RPS24	ORPHA:124
HP:0030669	Abnormal ocular adnexa morphology	6125	RPL5	ORPHA:124
HP:0030669	Abnormal ocular adnexa morphology	6204	RPS10	ORPHA:124
HP:0030669	Abnormal ocular adnexa morphology	2623	GATA1	ORPHA:124
HP:0030669	Abnormal ocular adnexa morphology	6133	RPL9	ORPHA:124
HP:0030669	Abnormal ocular adnexa morphology	6231	RPS26	ORPHA:124
HP:0030669	Abnormal ocular adnexa morphology	11224	RPL35	ORPHA:124
HP:0030669	Abnormal ocular adnexa morphology	6218	RPS17	ORPHA:124
HP:0030669	Abnormal ocular adnexa morphology	6154	RPL26	ORPHA:124
HP:0030669	Abnormal ocular adnexa morphology	6210	RPS15A	ORPHA:124
HP:0030669	Abnormal ocular adnexa morphology	90121	TSR2	ORPHA:124
HP:0030669	Abnormal ocular adnexa morphology	6141	RPL18	ORPHA:124
HP:0030669	Abnormal ocular adnexa morphology	6235	RPS29	ORPHA:124
HP:0030669	Abnormal ocular adnexa morphology	51816	ADA2	ORPHA:124
HP:0030669	Abnormal ocular adnexa morphology	257	ALX3	ORPHA:391474
HP:0030669	Abnormal ocular adnexa morphology	257	ALX3	OMIM:136760
HP:0030669	Abnormal ocular adnexa morphology	117581	TWIST2	ORPHA:1807
HP:0030669	Abnormal ocular adnexa morphology	117581	TWIST2	OMIM:227260
HP:0030669	Abnormal ocular adnexa morphology	1387	CREBBP	OMIM:618332
HP:0030669	Abnormal ocular adnexa morphology	1387	CREBBP	OMIM:180849
HP:0030669	Abnormal ocular adnexa morphology	1387	CREBBP	ORPHA:592574
HP:0030669	Abnormal ocular adnexa morphology	2033	EP300	OMIM:618333
HP:0030669	Abnormal ocular adnexa morphology	2033	EP300	OMIM:613684
HP:0030669	Abnormal ocular adnexa morphology	2033	EP300	OMIM:180849
HP:0030669	Abnormal ocular adnexa morphology	1917	EEF1A2	OMIM:616393
HP:0030669	Abnormal ocular adnexa morphology	9742	IFT140	OMIM:266920
HP:0030669	Abnormal ocular adnexa morphology	26173	INTS1	OMIM:618571
HP:0030669	Abnormal ocular adnexa morphology	10801	SEPTIN9	ORPHA:2901
HP:0030669	Abnormal ocular adnexa morphology	10801	SEPTIN9	OMIM:162100
HP:0030669	Abnormal ocular adnexa morphology	1642	DDB1	OMIM:619426
HP:0030669	Abnormal ocular adnexa morphology	5908	RAP1B	OMIM:620654
HP:0030669	Abnormal ocular adnexa morphology	389827	MYMK	OMIM:254940
HP:0030669	Abnormal ocular adnexa morphology	389827	MYMK	ORPHA:1358
HP:0030669	Abnormal ocular adnexa morphology	2261	FGFR3	ORPHA:794
HP:0030669	Abnormal ocular adnexa morphology	6134	RPL10	OMIM:300998
HP:0030669	Abnormal ocular adnexa morphology	6134	RPL10	ORPHA:459070
HP:0030669	Abnormal ocular adnexa morphology	54517	PUS7	OMIM:618342
HP:0030669	Abnormal ocular adnexa morphology	8573	CASK	OMIM:300749
HP:0030669	Abnormal ocular adnexa morphology	54973	INTS11	OMIM:620428
HP:0030669	Abnormal ocular adnexa morphology	10785	WDR4	OMIM:618347
HP:0030669	Abnormal ocular adnexa morphology	56623	INPP5E	OMIM:213300
HP:0030669	Abnormal ocular adnexa morphology	253738	EBF3	ORPHA:96148
HP:0030669	Abnormal ocular adnexa morphology	90459	ERI1	OMIM:620662
HP:0030669	Abnormal ocular adnexa morphology	50814	NSDHL	ORPHA:251383
HP:0030669	Abnormal ocular adnexa morphology	50814	NSDHL	OMIM:300831
HP:0030669	Abnormal ocular adnexa morphology	128869	PIGU	OMIM:618590
HP:0030669	Abnormal ocular adnexa morphology	5575	PRKAR1B	OMIM:619680
HP:0030669	Abnormal ocular adnexa morphology	7707	ZNF148	OMIM:617260
HP:0030669	Abnormal ocular adnexa morphology	5515	PPP2CA	OMIM:618354
HP:0030669	Abnormal ocular adnexa morphology	57520	HECW2	OMIM:617268
HP:0030669	Abnormal ocular adnexa morphology	23524	SRRM2	OMIM:620439
HP:0030669	Abnormal ocular adnexa morphology	5980	REV3L	ORPHA:570
HP:0030669	Abnormal ocular adnexa morphology	23129	PLXND1	ORPHA:570
HP:0030669	Abnormal ocular adnexa morphology	3039	HBA1	ORPHA:98791
HP:0030669	Abnormal ocular adnexa morphology	3040	HBA2	ORPHA:98791
HP:0030669	Abnormal ocular adnexa morphology	2334	AFF2	OMIM:309548
HP:0030669	Abnormal ocular adnexa morphology	2334	AFF2	ORPHA:100973
HP:0030669	Abnormal ocular adnexa morphology	4141	MARS1	OMIM:619692
HP:0030669	Abnormal ocular adnexa morphology	7468	NSD2	OMIM:619695
HP:0030669	Abnormal ocular adnexa morphology	7468	NSD2	OMIM:194190
HP:0030669	Abnormal ocular adnexa morphology	7468	NSD2	ORPHA:280
HP:0030669	Abnormal ocular adnexa morphology	22827	PUF60	ORPHA:508488
HP:0030669	Abnormal ocular adnexa morphology	23111	SPART	ORPHA:101000
HP:0030669	Abnormal ocular adnexa morphology	3188	HNRNPH2	OMIM:300986
HP:0030669	Abnormal ocular adnexa morphology	4613	MYCN	OMIM:164280
HP:0030669	Abnormal ocular adnexa morphology	4613	MYCN	OMIM:620748
HP:0030669	Abnormal ocular adnexa morphology	1974	EIF4A2	OMIM:620455
HP:0030669	Abnormal ocular adnexa morphology	79736	TEFM	OMIM:620451
HP:0030669	Abnormal ocular adnexa morphology	11285	B4GALT7	ORPHA:75496
HP:0030669	Abnormal ocular adnexa morphology	9851	KIAA0753	OMIM:619476
HP:0030669	Abnormal ocular adnexa morphology	9851	KIAA0753	ORPHA:2754
HP:0030669	Abnormal ocular adnexa morphology	2290	FOXG1	ORPHA:261144
HP:0030669	Abnormal ocular adnexa morphology	65250	CPLANE1	OMIM:277170
HP:0030669	Abnormal ocular adnexa morphology	65250	CPLANE1	ORPHA:2754
HP:0030669	Abnormal ocular adnexa morphology	134218	DNAJC21	OMIM:617052
HP:0030669	Abnormal ocular adnexa morphology	63895	PIEZO2	OMIM:108145
HP:0030669	Abnormal ocular adnexa morphology	63895	PIEZO2	OMIM:114300
HP:0030669	Abnormal ocular adnexa morphology	63895	PIEZO2	OMIM:248700
HP:0030669	Abnormal ocular adnexa morphology	11198	SUPT16H	OMIM:619480
HP:0030669	Abnormal ocular adnexa morphology	11198	SUPT16H	ORPHA:261229
HP:0030669	Abnormal ocular adnexa morphology	136647	MPLKIP	OMIM:234050
HP:0030669	Abnormal ocular adnexa morphology	136647	MPLKIP	ORPHA:33364
HP:0030669	Abnormal ocular adnexa morphology	1457	CSNK2A1	OMIM:617062
HP:0030669	Abnormal ocular adnexa morphology	7204	TRIO	OMIM:617061
HP:0030669	Abnormal ocular adnexa morphology	7204	TRIO	ORPHA:476126
HP:0030669	Abnormal ocular adnexa morphology	5290	PIK3CA	OMIM:602501
HP:0030669	Abnormal ocular adnexa morphology	2222	FDFT1	OMIM:618156
HP:0030669	Abnormal ocular adnexa morphology	203068	TUBB	OMIM:156610
HP:0030669	Abnormal ocular adnexa morphology	203068	TUBB	ORPHA:2505
HP:0030669	Abnormal ocular adnexa morphology	8567	MADD	OMIM:619004
HP:0030669	Abnormal ocular adnexa morphology	57477	SHROOM4	ORPHA:85288
HP:0030669	Abnormal ocular adnexa morphology	9326	ZNHIT3	OMIM:260565
HP:0030669	Abnormal ocular adnexa morphology	9326	ZNHIT3	ORPHA:2836
HP:0030669	Abnormal ocular adnexa morphology	1289	COL5A1	OMIM:130000
HP:0030669	Abnormal ocular adnexa morphology	1289	COL5A1	ORPHA:287
HP:0030669	Abnormal ocular adnexa morphology	8450	CUL4B	ORPHA:85293
HP:0030669	Abnormal ocular adnexa morphology	93587	TRMT10A	ORPHA:391408
HP:0030669	Abnormal ocular adnexa morphology	84919	PPP1R15B	ORPHA:391408
HP:0030669	Abnormal ocular adnexa morphology	84919	PPP1R15B	OMIM:616817
HP:0030669	Abnormal ocular adnexa morphology	60	ACTB	OMIM:620475
HP:0030669	Abnormal ocular adnexa morphology	60	ACTB	OMIM:243310
HP:0030669	Abnormal ocular adnexa morphology	60	ACTB	ORPHA:2995
HP:0030669	Abnormal ocular adnexa morphology	673	BRAF	OMIM:613706
HP:0030669	Abnormal ocular adnexa morphology	673	BRAF	OMIM:115150
HP:0030669	Abnormal ocular adnexa morphology	673	BRAF	ORPHA:1340
HP:0030669	Abnormal ocular adnexa morphology	673	BRAF	OMIM:163950
HP:0030669	Abnormal ocular adnexa morphology	3090	HIC1	ORPHA:531
HP:0030669	Abnormal ocular adnexa morphology	5048	PAFAH1B1	ORPHA:531
HP:0030669	Abnormal ocular adnexa morphology	7531	YWHAE	ORPHA:531
HP:0030669	Abnormal ocular adnexa morphology	80267	EDEM3	OMIM:619493
HP:0030669	Abnormal ocular adnexa morphology	1290	COL5A2	OMIM:130010
HP:0030669	Abnormal ocular adnexa morphology	1290	COL5A2	ORPHA:287
HP:0030669	Abnormal ocular adnexa morphology	84231	TRAF7	OMIM:618164
HP:0030669	Abnormal ocular adnexa morphology	89970	RSPRY1	ORPHA:457395
HP:0030669	Abnormal ocular adnexa morphology	89970	RSPRY1	OMIM:616723
HP:0030669	Abnormal ocular adnexa morphology	51594	NBAS	OMIM:614800
HP:0030669	Abnormal ocular adnexa morphology	54187	NANS	OMIM:610442
HP:0030669	Abnormal ocular adnexa morphology	284058	KANSL1	OMIM:610443
HP:0030669	Abnormal ocular adnexa morphology	284058	KANSL1	ORPHA:363958
HP:0030669	Abnormal ocular adnexa morphology	284058	KANSL1	ORPHA:363965
HP:0030669	Abnormal ocular adnexa morphology	10020	GNE	ORPHA:3166
HP:0030669	Abnormal ocular adnexa morphology	10020	GNE	OMIM:269921
HP:0030669	Abnormal ocular adnexa morphology	10079	ATP9A	OMIM:620242
HP:0030669	Abnormal ocular adnexa morphology	7474	WNT5A	OMIM:180700
HP:0030669	Abnormal ocular adnexa morphology	7474	WNT5A	ORPHA:3107
HP:0030669	Abnormal ocular adnexa morphology	114034	TOE1	ORPHA:284339
HP:0030669	Abnormal ocular adnexa morphology	114034	TOE1	OMIM:614969
HP:0030669	Abnormal ocular adnexa morphology	9562	MINPP1	ORPHA:284339
HP:0030669	Abnormal ocular adnexa morphology	51626	DYNC2LI1	OMIM:617088
HP:0030669	Abnormal ocular adnexa morphology	4921	DDR2	OMIM:618175
HP:0030669	Abnormal ocular adnexa morphology	9898	UBAP2L	OMIM:620494
HP:0030669	Abnormal ocular adnexa morphology	8085	KMT2D	OMIM:147920
HP:0030669	Abnormal ocular adnexa morphology	8085	KMT2D	OMIM:620186
HP:0030669	Abnormal ocular adnexa morphology	7403	KDM6A	OMIM:147920
HP:0030669	Abnormal ocular adnexa morphology	7403	KDM6A	OMIM:300867
HP:0030669	Abnormal ocular adnexa morphology	168667	BMPER	OMIM:608022
HP:0030669	Abnormal ocular adnexa morphology	6309	SC5D	ORPHA:46059
HP:0030669	Abnormal ocular adnexa morphology	6309	SC5D	OMIM:607330
HP:0030669	Abnormal ocular adnexa morphology	5393	EXOSC9	OMIM:618065
HP:0030669	Abnormal ocular adnexa morphology	161742	SPRED1	OMIM:611431
HP:0030669	Abnormal ocular adnexa morphology	652	BMP4	ORPHA:828
HP:0030669	Abnormal ocular adnexa morphology	57539	WDR35	OMIM:613610
HP:0030669	Abnormal ocular adnexa morphology	57539	WDR35	ORPHA:93271
HP:0030669	Abnormal ocular adnexa morphology	57539	WDR35	ORPHA:1515
HP:0030669	Abnormal ocular adnexa morphology	57539	WDR35	OMIM:614091
HP:0030669	Abnormal ocular adnexa morphology	7518	XRCC4	ORPHA:99812
HP:0030669	Abnormal ocular adnexa morphology	3981	LIG4	ORPHA:99812
HP:0030669	Abnormal ocular adnexa morphology	3981	LIG4	OMIM:606593
HP:0030669	Abnormal ocular adnexa morphology	3981	LIG4	ORPHA:235
HP:0030669	Abnormal ocular adnexa morphology	4784	NFIX	ORPHA:447980
HP:0030669	Abnormal ocular adnexa morphology	55112	DYNC2I1	ORPHA:93271
HP:0030669	Abnormal ocular adnexa morphology	57560	IFT80	ORPHA:93271
HP:0030669	Abnormal ocular adnexa morphology	79659	DYNC2H1	ORPHA:93271
HP:0030669	Abnormal ocular adnexa morphology	89891	DYNC2I2	ORPHA:93271
HP:0030669	Abnormal ocular adnexa morphology	51506	UFC1	OMIM:618076
HP:0030669	Abnormal ocular adnexa morphology	55788	LMBRD1	OMIM:277380
HP:0030669	Abnormal ocular adnexa morphology	6662	SOX9	OMIM:114290
HP:0030669	Abnormal ocular adnexa morphology	1717	DHCR7	ORPHA:818
HP:0030669	Abnormal ocular adnexa morphology	1717	DHCR7	OMIM:270400
HP:0030669	Abnormal ocular adnexa morphology	10225	CD96	OMIM:211750
HP:0030669	Abnormal ocular adnexa morphology	10225	CD96	ORPHA:1308
HP:0030669	Abnormal ocular adnexa morphology	1301	COL11A1	OMIM:154780
HP:0030669	Abnormal ocular adnexa morphology	84992	PIGY	ORPHA:247262
HP:0030669	Abnormal ocular adnexa morphology	84720	PIGO	ORPHA:247262
HP:0030669	Abnormal ocular adnexa morphology	93210	PGAP3	ORPHA:247262
HP:0030669	Abnormal ocular adnexa morphology	284098	PIGW	ORPHA:247262
HP:0030669	Abnormal ocular adnexa morphology	27315	PGAP2	ORPHA:247262
HP:0030669	Abnormal ocular adnexa morphology	55650	PIGV	ORPHA:247262
HP:0030669	Abnormal ocular adnexa morphology	9487	PIGL	ORPHA:247262
HP:0030669	Abnormal ocular adnexa morphology	9487	PIGL	ORPHA:3474
HP:0030669	Abnormal ocular adnexa morphology	9487	PIGL	OMIM:280000
HP:0030669	Abnormal ocular adnexa morphology	80204	FBXO11	OMIM:618089
HP:0030669	Abnormal ocular adnexa morphology	1801	DPH1	OMIM:616901
HP:0030669	Abnormal ocular adnexa morphology	1801	DPH1	ORPHA:459061
HP:0030669	Abnormal ocular adnexa morphology	93627	TBCK	OMIM:616900
HP:0030669	Abnormal ocular adnexa morphology	93627	TBCK	ORPHA:488632
HP:0030669	Abnormal ocular adnexa morphology	546	ATRX	ORPHA:847
HP:0030669	Abnormal ocular adnexa morphology	546	ATRX	OMIM:309580
HP:0030669	Abnormal ocular adnexa morphology	546	ATRX	OMIM:301040
HP:0030669	Abnormal ocular adnexa morphology	9839	ZEB2	ORPHA:261552
HP:0030669	Abnormal ocular adnexa morphology	64919	BCL11B	OMIM:618092
HP:0030669	Abnormal ocular adnexa morphology	9184	BUB3	ORPHA:1052
HP:0030669	Abnormal ocular adnexa morphology	699	BUB1	ORPHA:1052
HP:0030669	Abnormal ocular adnexa morphology	699	BUB1	OMIM:620183
HP:0030669	Abnormal ocular adnexa morphology	9702	CEP57	ORPHA:1052
HP:0030669	Abnormal ocular adnexa morphology	9702	CEP57	OMIM:614114
HP:0030669	Abnormal ocular adnexa morphology	9319	TRIP13	ORPHA:1052
HP:0030669	Abnormal ocular adnexa morphology	701	BUB1B	ORPHA:1052
HP:0030669	Abnormal ocular adnexa morphology	701	BUB1B	OMIM:257300
HP:0030669	Abnormal ocular adnexa morphology	23036	ZNF292	OMIM:619188
HP:0030669	Abnormal ocular adnexa morphology	6885	MAP3K7	OMIM:157800
HP:0030669	Abnormal ocular adnexa morphology	23545	ATP6V0A2	OMIM:278250
HP:0030669	Abnormal ocular adnexa morphology	23545	ATP6V0A2	ORPHA:2834
HP:0030669	Abnormal ocular adnexa morphology	1954	MEGF8	OMIM:614976
HP:0030669	Abnormal ocular adnexa morphology	1954	MEGF8	ORPHA:65759
HP:0030669	Abnormal ocular adnexa morphology	84300	UQCC2	OMIM:615824
HP:0030669	Abnormal ocular adnexa morphology	3070	HELLS	OMIM:616911
HP:0030669	Abnormal ocular adnexa morphology	3070	HELLS	ORPHA:2268
HP:0030669	Abnormal ocular adnexa morphology	83879	CDCA7	OMIM:616910
HP:0030669	Abnormal ocular adnexa morphology	83879	CDCA7	ORPHA:2268
HP:0030669	Abnormal ocular adnexa morphology	25942	SIN3A	OMIM:613406
HP:0030669	Abnormal ocular adnexa morphology	25942	SIN3A	ORPHA:94065
HP:0030669	Abnormal ocular adnexa morphology	10815	CPLX1	OMIM:194190
HP:0030669	Abnormal ocular adnexa morphology	10815	CPLX1	ORPHA:280
HP:0030669	Abnormal ocular adnexa morphology	1487	CTBP1	OMIM:194190
HP:0030669	Abnormal ocular adnexa morphology	1487	CTBP1	ORPHA:280
HP:0030669	Abnormal ocular adnexa morphology	53834	FGFRL1	OMIM:194190
HP:0030669	Abnormal ocular adnexa morphology	3954	LETM1	OMIM:194190
HP:0030669	Abnormal ocular adnexa morphology	3954	LETM1	ORPHA:280
HP:0030669	Abnormal ocular adnexa morphology	10522	DEAF1	OMIM:615828
HP:0030669	Abnormal ocular adnexa morphology	3192	HNRNPU	ORPHA:238769
HP:0030669	Abnormal ocular adnexa morphology	9653	HS2ST1	OMIM:619194
HP:0030669	Abnormal ocular adnexa morphology	7025	NR2F1	ORPHA:401777
HP:0030669	Abnormal ocular adnexa morphology	7025	NR2F1	OMIM:615722
HP:0030669	Abnormal ocular adnexa morphology	51660	MPC1	OMIM:614741
HP:0030669	Abnormal ocular adnexa morphology	9508	ADAMTS3	ORPHA:2136
HP:0030669	Abnormal ocular adnexa morphology	147372	CCBE1	ORPHA:2136
HP:0030669	Abnormal ocular adnexa morphology	147372	CCBE1	OMIM:235510
HP:0030669	Abnormal ocular adnexa morphology	10908	PNPLA6	ORPHA:2377
HP:0030669	Abnormal ocular adnexa morphology	26053	AUTS2	OMIM:615834
HP:0030669	Abnormal ocular adnexa morphology	26053	AUTS2	ORPHA:352490
HP:0030669	Abnormal ocular adnexa morphology	3211	HOXB1	OMIM:614744
HP:0030669	Abnormal ocular adnexa morphology	54499	TMCO1	OMIM:213980
HP:0030669	Abnormal ocular adnexa morphology	54499	TMCO1	ORPHA:1394
HP:0030669	Abnormal ocular adnexa morphology	23137	SMC5	OMIM:620185
HP:0030669	Abnormal ocular adnexa morphology	2255	FGF10	OMIM:620193
HP:0030669	Abnormal ocular adnexa morphology	283209	PGM2L1	OMIM:620191
HP:0030669	Abnormal ocular adnexa morphology	79228	THOC6	ORPHA:363444
HP:0030669	Abnormal ocular adnexa morphology	57459	GATAD2B	ORPHA:363686
HP:0030669	Abnormal ocular adnexa morphology	8050	PDHX	OMIM:245349
HP:0030669	Abnormal ocular adnexa morphology	8481	OFD1	OMIM:311200
HP:0030669	Abnormal ocular adnexa morphology	8481	OFD1	ORPHA:2750
HP:0030669	Abnormal ocular adnexa morphology	8481	OFD1	ORPHA:2754
HP:0030669	Abnormal ocular adnexa morphology	8481	OFD1	OMIM:300804
HP:0030669	Abnormal ocular adnexa morphology	10472	ZBTB18	OMIM:612337
HP:0030669	Abnormal ocular adnexa morphology	10472	ZBTB18	ORPHA:36367
HP:0030669	Abnormal ocular adnexa morphology	388015	RTL1	ORPHA:96334
HP:0030669	Abnormal ocular adnexa morphology	388015	RTL1	ORPHA:254528
HP:0030669	Abnormal ocular adnexa morphology	8788	DLK1	ORPHA:96334
HP:0030669	Abnormal ocular adnexa morphology	8788	DLK1	ORPHA:254528
HP:0030669	Abnormal ocular adnexa morphology	55384	MEG3	ORPHA:96334
HP:0030669	Abnormal ocular adnexa morphology	55384	MEG3	ORPHA:254528
HP:0030669	Abnormal ocular adnexa morphology	10735	STAG2	ORPHA:521258
HP:0030669	Abnormal ocular adnexa morphology	55275	VPS53	OMIM:615851
HP:0030669	Abnormal ocular adnexa morphology	2146	EZH2	OMIM:277590
HP:0030669	Abnormal ocular adnexa morphology	171023	ASXL1	OMIM:605039
HP:0030669	Abnormal ocular adnexa morphology	55023	PHIP	ORPHA:589905
HP:0030669	Abnormal ocular adnexa morphology	55023	PHIP	OMIM:617991
HP:0030669	Abnormal ocular adnexa morphology	22907	DHX30	OMIM:617804
HP:0030669	Abnormal ocular adnexa morphology	196528	ARID2	OMIM:617808
HP:0030669	Abnormal ocular adnexa morphology	26123	TCTN3	OMIM:258860
HP:0030669	Abnormal ocular adnexa morphology	26123	TCTN3	ORPHA:2754
HP:0030669	Abnormal ocular adnexa morphology	84627	ZNF469	OMIM:229200
HP:0030669	Abnormal ocular adnexa morphology	23394	ADNP	OMIM:615873
HP:0030669	Abnormal ocular adnexa morphology	1788	DNMT3A	OMIM:615879
HP:0030669	Abnormal ocular adnexa morphology	1788	DNMT3A	OMIM:618724
HP:0030669	Abnormal ocular adnexa morphology	10586	MAB21L2	OMIM:615877
HP:0030669	Abnormal ocular adnexa morphology	4893	NRAS	OMIM:613224
HP:0030669	Abnormal ocular adnexa morphology	169792	GLIS3	OMIM:610199
HP:0030669	Abnormal ocular adnexa morphology	10982	MAPRE2	OMIM:616734
HP:0030669	Abnormal ocular adnexa morphology	10982	MAPRE2	ORPHA:2505
HP:0030669	Abnormal ocular adnexa morphology	55033	FKBP14	OMIM:614557
HP:0030669	Abnormal ocular adnexa morphology	4131	MAP1B	OMIM:618918
HP:0030669	Abnormal ocular adnexa morphology	55764	IFT122	OMIM:218330
HP:0030669	Abnormal ocular adnexa morphology	55764	IFT122	ORPHA:1515
HP:0030669	Abnormal ocular adnexa morphology	10943	MSL3	OMIM:301032
HP:0030669	Abnormal ocular adnexa morphology	57511	COG6	OMIM:614576
HP:0030669	Abnormal ocular adnexa morphology	83696	TRAPPC9	ORPHA:352530
HP:0030669	Abnormal ocular adnexa morphology	4854	NOTCH3	ORPHA:2789
HP:0030669	Abnormal ocular adnexa morphology	139285	AMER1	ORPHA:2780
HP:0030669	Abnormal ocular adnexa morphology	139285	AMER1	OMIM:300373
HP:0030669	Abnormal ocular adnexa morphology	2313	FLI1	ORPHA:2308
HP:0030669	Abnormal ocular adnexa morphology	9343	EFTUD2	ORPHA:79113
HP:0030669	Abnormal ocular adnexa morphology	9343	EFTUD2	OMIM:610536
HP:0030669	Abnormal ocular adnexa morphology	9361	LONP1	ORPHA:1458
HP:0030669	Abnormal ocular adnexa morphology	6197	RPS6KA3	ORPHA:192
HP:0030669	Abnormal ocular adnexa morphology	10664	CTCF	ORPHA:363611
HP:0030669	Abnormal ocular adnexa morphology	10664	CTCF	OMIM:615502
HP:0030669	Abnormal ocular adnexa morphology	10367	MICU1	OMIM:615673
HP:0030669	Abnormal ocular adnexa morphology	4329	ALDH6A1	OMIM:614105
HP:0030669	Abnormal ocular adnexa morphology	80781	COL18A1	OMIM:267750
HP:0030669	Abnormal ocular adnexa morphology	80781	COL18A1	ORPHA:1571
HP:0030669	Abnormal ocular adnexa morphology	284252	KCTD1	OMIM:181270
HP:0030669	Abnormal ocular adnexa morphology	23556	PIGN	ORPHA:280633
HP:0030669	Abnormal ocular adnexa morphology	23556	PIGN	OMIM:614080
HP:0030669	Abnormal ocular adnexa morphology	55617	TASP1	OMIM:618950
HP:0030669	Abnormal ocular adnexa morphology	6182	MRPL12	OMIM:618951
HP:0030669	Abnormal ocular adnexa morphology	112752	IFT43	OMIM:617866
HP:0030669	Abnormal ocular adnexa morphology	112752	IFT43	ORPHA:1515
HP:0030669	Abnormal ocular adnexa morphology	259266	ASPM	OMIM:608716
HP:0030669	Abnormal ocular adnexa morphology	6651	SON	ORPHA:500150
HP:0030669	Abnormal ocular adnexa morphology	6651	SON	OMIM:617140
HP:0030669	Abnormal ocular adnexa morphology	26503	SLC17A5	OMIM:269920
HP:0030669	Abnormal ocular adnexa morphology	1748	DLX4	OMIM:616788
HP:0030669	Abnormal ocular adnexa morphology	71	ACTG1	ORPHA:2995
HP:0030669	Abnormal ocular adnexa morphology	5286	PIK3C2A	ORPHA:557003
HP:0030669	Abnormal ocular adnexa morphology	5286	PIK3C2A	OMIM:618440
HP:0030669	Abnormal ocular adnexa morphology	79583	TMEM231	ORPHA:2754
HP:0030669	Abnormal ocular adnexa morphology	10210	TOPORS	ORPHA:2754
HP:0030669	Abnormal ocular adnexa morphology	5147	PDE6D	ORPHA:2754
HP:0030669	Abnormal ocular adnexa morphology	51259	TMEM216	ORPHA:2754
HP:0030669	Abnormal ocular adnexa morphology	317662	FAM149B1	ORPHA:2754
HP:0030669	Abnormal ocular adnexa morphology	374654	KIF7	ORPHA:2754
HP:0030669	Abnormal ocular adnexa morphology	374654	KIF7	OMIM:200990
HP:0030669	Abnormal ocular adnexa morphology	5087	PBX1	OMIM:617641
HP:0030669	Abnormal ocular adnexa morphology	57728	WDR19	OMIM:614378
HP:0030669	Abnormal ocular adnexa morphology	57728	WDR19	ORPHA:1515
HP:0030669	Abnormal ocular adnexa morphology	1297	COL9A1	OMIM:614134
HP:0030669	Abnormal ocular adnexa morphology	84148	KAT8	OMIM:618974
HP:0030669	Abnormal ocular adnexa morphology	8449	DHX16	OMIM:618733
HP:0030669	Abnormal ocular adnexa morphology	1278	COL1A2	ORPHA:1899
HP:0030669	Abnormal ocular adnexa morphology	1277	COL1A1	ORPHA:1899
HP:0030669	Abnormal ocular adnexa morphology	1277	COL1A1	ORPHA:287
HP:0030669	Abnormal ocular adnexa morphology	11253	MAN1B1	ORPHA:397941
HP:0030669	Abnormal ocular adnexa morphology	8367	H4C5	OMIM:619950
HP:0030669	Abnormal ocular adnexa morphology	5728	PTEN	OMIM:605309
HP:0030669	Abnormal ocular adnexa morphology	6016	RIT1	OMIM:615355
HP:0030669	Abnormal ocular adnexa morphology	4204	MECP2	ORPHA:1762
HP:0030669	Abnormal ocular adnexa morphology	4204	MECP2	OMIM:300260
HP:0030669	Abnormal ocular adnexa morphology	51126	NAA20	OMIM:619717
HP:0030669	Abnormal ocular adnexa morphology	55627	SMPD4	OMIM:618622
HP:0030669	Abnormal ocular adnexa morphology	84942	WDR73	OMIM:251300
HP:0030669	Abnormal ocular adnexa morphology	5830	PEX5	OMIM:214110
HP:0030669	Abnormal ocular adnexa morphology	5830	PEX5	OMIM:202370
HP:0030669	Abnormal ocular adnexa morphology	5830	PEX5	ORPHA:912
HP:0030669	Abnormal ocular adnexa morphology	79848	CSPP1	ORPHA:397715
HP:0030669	Abnormal ocular adnexa morphology	9786	KIAA0586	ORPHA:397715
HP:0030669	Abnormal ocular adnexa morphology	65267	WNK3	OMIM:309610
HP:0030669	Abnormal ocular adnexa morphology	3020	H3-3A	OMIM:619720
HP:0030669	Abnormal ocular adnexa morphology	51741	WWOX	OMIM:616211
HP:0030669	Abnormal ocular adnexa morphology	51111	KMT5B	OMIM:617788
HP:0030669	Abnormal ocular adnexa morphology	2624	GATA2	OMIM:614038
HP:0030669	Abnormal ocular adnexa morphology	79639	TMEM53	OMIM:619727
HP:0030669	Abnormal ocular adnexa morphology	65082	VPS33A	OMIM:617303
HP:0030669	Abnormal ocular adnexa morphology	65082	VPS33A	ORPHA:505248
HP:0030669	Abnormal ocular adnexa morphology	129563	DIS3L2	ORPHA:2849
HP:0030669	Abnormal ocular adnexa morphology	3764	KCNJ8	ORPHA:1517
HP:0030669	Abnormal ocular adnexa morphology	10060	ABCC9	ORPHA:1517
HP:0030669	Abnormal ocular adnexa morphology	10060	ABCC9	OMIM:239850
HP:0030669	Abnormal ocular adnexa morphology	51098	IFT52	ORPHA:1515
HP:0030669	Abnormal ocular adnexa morphology	9698	PUM1	OMIM:620719
HP:0030669	Abnormal ocular adnexa morphology	25885	POLR1A	OMIM:616462
HP:0030669	Abnormal ocular adnexa morphology	9692	PRORP	OMIM:619737
HP:0030669	Abnormal ocular adnexa morphology	815	CAMK2A	OMIM:617798
HP:0030669	Abnormal ocular adnexa morphology	4853	NOTCH2	OMIM:102500
HP:0030669	Abnormal ocular adnexa morphology	10381	TUBB3	ORPHA:300570
HP:0030669	Abnormal ocular adnexa morphology	64359	NXN	ORPHA:1507
HP:0030669	Abnormal ocular adnexa morphology	4920	ROR2	ORPHA:1507
HP:0030669	Abnormal ocular adnexa morphology	4920	ROR2	OMIM:268310
HP:0030669	Abnormal ocular adnexa morphology	2626	GATA4	ORPHA:251071
HP:0030669	Abnormal ocular adnexa morphology	6872	TAF1	ORPHA:480907
HP:0030669	Abnormal ocular adnexa morphology	1281	COL3A1	ORPHA:286
HP:0030669	Abnormal ocular adnexa morphology	8726	EED	OMIM:617561
HP:0030669	Abnormal ocular adnexa morphology	54872	PIGG	ORPHA:280
HP:0030669	Abnormal ocular adnexa morphology	7469	NELFA	ORPHA:280
HP:0030669	Abnormal ocular adnexa morphology	4763	NF1	ORPHA:363700
HP:0030669	Abnormal ocular adnexa morphology	4763	NF1	OMIM:193520
HP:0030669	Abnormal ocular adnexa morphology	4763	NF1	OMIM:601321
HP:0030669	Abnormal ocular adnexa morphology	22884	WDR37	OMIM:618652
HP:0030669	Abnormal ocular adnexa morphology	1656	DDX6	OMIM:618653
HP:0030669	Abnormal ocular adnexa morphology	1501	CTNND2	ORPHA:281
HP:0030669	Abnormal ocular adnexa morphology	9037	SEMA5A	ORPHA:281
HP:0030669	Abnormal ocular adnexa morphology	5442	POLRMT	OMIM:619743
HP:0030669	Abnormal ocular adnexa morphology	4297	KMT2A	ORPHA:319182
HP:0030669	Abnormal ocular adnexa morphology	4297	KMT2A	OMIM:605130
HP:0030669	Abnormal ocular adnexa morphology	57178	ZMIZ1	OMIM:618659
HP:0030669	Abnormal ocular adnexa morphology	55012	PPP2R3C	OMIM:618419
HP:0030669	Abnormal ocular adnexa morphology	200734	SPRED2	OMIM:619745
HP:0030669	Abnormal ocular adnexa morphology	55623	THUMPD1	OMIM:619989
HP:0030669	Abnormal ocular adnexa morphology	1789	DNMT3B	OMIM:242860
HP:0030669	Abnormal ocular adnexa morphology	1789	DNMT3B	ORPHA:2268
HP:0030669	Abnormal ocular adnexa morphology	54888	NSUN2	ORPHA:235
HP:0030669	Abnormal ocular adnexa morphology	23312	DMXL2	OMIM:618663
HP:0030669	Abnormal ocular adnexa morphology	1182	CLCN3	OMIM:619512
HP:0030669	Abnormal ocular adnexa morphology	23461	ABCA5	OMIM:135400
HP:0030669	Abnormal ocular adnexa morphology	54914	FOCAD	OMIM:619991
HP:0030669	Abnormal ocular adnexa morphology	1660	DHX9	OMIM:620988
HP:0030669	Abnormal ocular adnexa morphology	9841	ZBTB24	OMIM:614069
HP:0030669	Abnormal ocular adnexa morphology	9841	ZBTB24	ORPHA:2268
HP:0030669	Abnormal ocular adnexa morphology	286	ANK1	ORPHA:251066
HP:0030669	Abnormal ocular adnexa morphology	93986	FOXP2	ORPHA:251061
HP:0030669	Abnormal ocular adnexa morphology	85365	ALG2	ORPHA:79326
HP:0030669	Abnormal ocular adnexa morphology	85365	ALG2	OMIM:607906
HP:0030669	Abnormal ocular adnexa morphology	26137	ZBTB20	OMIM:259050
HP:0030669	Abnormal ocular adnexa morphology	7750	ZMYM2	OMIM:619522
HP:0030669	Abnormal ocular adnexa morphology	53335	BCL11A	OMIM:617101
HP:0030669	Abnormal ocular adnexa morphology	59336	PRDM13	OMIM:619761
HP:0030669	Abnormal ocular adnexa morphology	59336	PRDM13	OMIM:619909
HP:0030669	Abnormal ocular adnexa morphology	6942	TCF20	OMIM:618430
HP:0030669	Abnormal ocular adnexa morphology	9158	FIBP	OMIM:617107
HP:0030669	Abnormal ocular adnexa morphology	9158	FIBP	ORPHA:500095
HP:0030669	Abnormal ocular adnexa morphology	57466	SCAF4	OMIM:620511
HP:0030669	Abnormal ocular adnexa morphology	9968	MED12	OMIM:305450
HP:0030669	Abnormal ocular adnexa morphology	9968	MED12	OMIM:300895
HP:0030669	Abnormal ocular adnexa morphology	57492	ARID1B	ORPHA:251056
HP:0030669	Abnormal ocular adnexa morphology	5373	PMM2	ORPHA:79318
HP:0030669	Abnormal ocular adnexa morphology	57724	EPG5	OMIM:242840
HP:0030669	Abnormal ocular adnexa morphology	7030	TFE3	OMIM:301066
HP:0030669	Abnormal ocular adnexa morphology	1107	CHD3	OMIM:618205
HP:0030669	Abnormal ocular adnexa morphology	6261	RYR1	ORPHA:324581
HP:0030669	Abnormal ocular adnexa morphology	7476	WNT7A	OMIM:276820
HP:0030669	Abnormal ocular adnexa morphology	404672	GTF2H5	ORPHA:33364
HP:0030669	Abnormal ocular adnexa morphology	833	CARS1	ORPHA:33364
HP:0030669	Abnormal ocular adnexa morphology	2068	ERCC2	ORPHA:33364
HP:0030669	Abnormal ocular adnexa morphology	7737	RNF113A	ORPHA:33364
HP:0030669	Abnormal ocular adnexa morphology	6897	TARS1	ORPHA:33364
HP:0030669	Abnormal ocular adnexa morphology	16	AARS1	ORPHA:33364
HP:0030669	Abnormal ocular adnexa morphology	2071	ERCC3	ORPHA:33364
HP:0030669	Abnormal ocular adnexa morphology	2961	GTF2E2	ORPHA:33364
HP:0030669	Abnormal ocular adnexa morphology	79087	ALG12	ORPHA:79324
HP:0030669	Abnormal ocular adnexa morphology	79087	ALG12	OMIM:607143
HP:0030669	Abnormal ocular adnexa morphology	3756	KCNH1	OMIM:611816
HP:0030669	Abnormal ocular adnexa morphology	3756	KCNH1	ORPHA:420561
HP:0030669	Abnormal ocular adnexa morphology	9896	FIG4	OMIM:216340
HP:0030669	Abnormal ocular adnexa morphology	10195	ALG3	OMIM:601110
HP:0030669	Abnormal ocular adnexa morphology	8295	TRRAP	OMIM:618454
HP:0030669	Abnormal ocular adnexa morphology	8621	CDK13	OMIM:617360
HP:0030669	Abnormal ocular adnexa morphology	51117	COQ4	OMIM:616276
HP:0030669	Abnormal ocular adnexa morphology	164	AP1G1	OMIM:619548
HP:0030669	Abnormal ocular adnexa morphology	27145	FILIP1	OMIM:620775
HP:0030669	Abnormal ocular adnexa morphology	6857	SYT1	OMIM:618218
HP:0030669	Abnormal ocular adnexa morphology	6857	SYT1	ORPHA:522077
HP:0030669	Abnormal ocular adnexa morphology	6654	SOS1	OMIM:610733
HP:0030669	Abnormal ocular adnexa morphology	1802	DPH2	ORPHA:459061
HP:0030669	Abnormal ocular adnexa morphology	6929	TCF3	ORPHA:33110
HP:0030669	Abnormal ocular adnexa morphology	7922	SLC39A7	ORPHA:33110
HP:0030669	Abnormal ocular adnexa morphology	973	CD79A	ORPHA:33110
HP:0030669	Abnormal ocular adnexa morphology	974	CD79B	ORPHA:33110
HP:0030669	Abnormal ocular adnexa morphology	6688	SPI1	ORPHA:33110
HP:0030669	Abnormal ocular adnexa morphology	3543	IGLL1	ORPHA:33110
HP:0030669	Abnormal ocular adnexa morphology	3507	IGHM	ORPHA:33110
HP:0030669	Abnormal ocular adnexa morphology	29760	BLNK	ORPHA:33110
HP:0030669	Abnormal ocular adnexa morphology	5295	PIK3R1	ORPHA:33110
HP:0030669	Abnormal ocular adnexa morphology	56262	LRRC8A	ORPHA:33110
HP:0030669	Abnormal ocular adnexa morphology	56262	LRRC8A	OMIM:613506
HP:0030669	Abnormal ocular adnexa morphology	84706	GPT2	OMIM:616281
HP:0030669	Abnormal ocular adnexa morphology	5898	RALA	OMIM:619311
HP:0030669	Abnormal ocular adnexa morphology	6909	TBX2	OMIM:618223
HP:0030669	Abnormal ocular adnexa morphology	5351	PLOD1	OMIM:225400
HP:0030669	Abnormal ocular adnexa morphology	6477	SIAH1	OMIM:619314
HP:0030669	Abnormal ocular adnexa morphology	57102	FERRY3	OMIM:618221
HP:0030669	Abnormal ocular adnexa morphology	55628	ZNF407	OMIM:619557
HP:0030669	Abnormal ocular adnexa morphology	84320	ACBD6	OMIM:620785
HP:0030669	Abnormal ocular adnexa morphology	26275	HIBCH	ORPHA:88639
HP:0030669	Abnormal ocular adnexa morphology	26275	HIBCH	OMIM:250620
HP:0030669	Abnormal ocular adnexa morphology	650	BMP2	ORPHA:261295
HP:0030669	Abnormal ocular adnexa morphology	1436	CSF1R	OMIM:618476
HP:0030669	Abnormal ocular adnexa morphology	29998	BICRA	OMIM:619325
HP:0030669	Abnormal ocular adnexa morphology	6263	RYR3	OMIM:620310
HP:0030669	Abnormal ocular adnexa morphology	9126	SMC3	OMIM:610759
HP:0030669	Abnormal ocular adnexa morphology	23221	RHOBTB2	OMIM:618004
HP:0030669	Abnormal ocular adnexa morphology	4125	MAN2B1	OMIM:248500
HP:0030669	Abnormal ocular adnexa morphology	54496	PRMT7	OMIM:617157
HP:0030669	Abnormal ocular adnexa morphology	2316	FLNA	ORPHA:88630
HP:0030669	Abnormal ocular adnexa morphology	2316	FLNA	OMIM:300244
HP:0030669	Abnormal ocular adnexa morphology	10082	GPC6	OMIM:258315
HP:0030669	Abnormal ocular adnexa morphology	1108	CHD4	OMIM:617159
HP:0030669	Abnormal ocular adnexa morphology	9719	ADAMTSL2	ORPHA:1901
HP:0030669	Abnormal ocular adnexa morphology	9509	ADAMTS2	ORPHA:1901
HP:0030669	Abnormal ocular adnexa morphology	9509	ADAMTS2	OMIM:225410
HP:0030669	Abnormal ocular adnexa morphology	23389	MED13L	ORPHA:369891
HP:0030669	Abnormal ocular adnexa morphology	3265	HRAS	ORPHA:3071
HP:0030669	Abnormal ocular adnexa morphology	3265	HRAS	OMIM:218040
HP:0030669	Abnormal ocular adnexa morphology	9496	TBX4	ORPHA:261279
HP:0030669	Abnormal ocular adnexa morphology	1822	ATN1	OMIM:618494
HP:0030669	Abnormal ocular adnexa morphology	5573	PRKAR1A	OMIM:101800
HP:0030669	Abnormal ocular adnexa morphology	5573	PRKAR1A	ORPHA:950
HP:0030669	Abnormal ocular adnexa morphology	51715	RAB23	ORPHA:65759
HP:0030669	Abnormal ocular adnexa morphology	51715	RAB23	OMIM:201000
HP:0030669	Abnormal ocular adnexa morphology	64864	RFX7	OMIM:620330
HP:0030669	Abnormal ocular adnexa morphology	57003	CCDC47	OMIM:618268
HP:0030669	Abnormal ocular adnexa morphology	5977	DPF2	OMIM:618027
HP:0030669	Abnormal ocular adnexa morphology	10847	SRCAP	OMIM:619595
HP:0030669	Abnormal ocular adnexa morphology	79005	SCNM1	OMIM:620107
HP:0030669	Abnormal ocular adnexa morphology	526	ATP6V1B2	ORPHA:79500
HP:0030669	Abnormal ocular adnexa morphology	57465	TBC1D24	ORPHA:79500
HP:0030669	Abnormal ocular adnexa morphology	57465	TBC1D24	OMIM:220500
HP:0030669	Abnormal ocular adnexa morphology	2132	EXT2	ORPHA:52022
HP:0030669	Abnormal ocular adnexa morphology	60529	ALX4	ORPHA:52022
HP:0030669	Abnormal ocular adnexa morphology	51317	PHF21A	ORPHA:52022
HP:0030669	Abnormal ocular adnexa morphology	10220	GDF11	OMIM:619122
HP:0030669	Abnormal ocular adnexa morphology	226	ALDOA	OMIM:611881
HP:0030669	Abnormal ocular adnexa morphology	55252	ASXL2	OMIM:617190
HP:0030669	Abnormal ocular adnexa morphology	23154	NCDN	OMIM:619373
HP:0030669	Abnormal ocular adnexa morphology	1984	EIF5A	OMIM:619376
HP:0030669	Abnormal ocular adnexa morphology	3295	HSD17B4	OMIM:261515
HP:0030669	Abnormal ocular adnexa morphology	1795	DOCK3	OMIM:618292
HP:0030669	Abnormal ocular adnexa morphology	11011	TLK2	OMIM:618050
HP:0030669	Abnormal ocular adnexa morphology	129285	PPP1R21	OMIM:619383
HP:0030669	Abnormal ocular adnexa morphology	27161	AGO2	OMIM:619149
HP:0030669	Abnormal ocular adnexa morphology	221927	BRAT1	OMIM:618056
HP:0030669	Abnormal ocular adnexa morphology	57680	CHD8	ORPHA:261229
HP:0030669	Abnormal ocular adnexa morphology	5144	PDE4D	ORPHA:950
HP:0030669	Abnormal ocular adnexa morphology	7337	UBE3A	ORPHA:238446
HP:0030669	Abnormal ocular adnexa morphology	58499	ZNF462	ORPHA:502430
HP:0030669	Abnormal ocular adnexa morphology	58499	ZNF462	OMIM:618619
HP:0030669	Abnormal ocular adnexa morphology	8506	CNTNAP1	OMIM:618186
HP:0030669	Abnormal ocular adnexa morphology	5894	RAF1	OMIM:611554
HP:0030669	Abnormal ocular adnexa morphology	5894	RAF1	OMIM:611553
HP:0030669	Abnormal ocular adnexa morphology	25782	RAB3GAP2	OMIM:212720
HP:0030669	Abnormal ocular adnexa morphology	6595	SMARCA2	OMIM:619293
HP:0030669	Abnormal ocular adnexa morphology	28958	COA3	OMIM:619058
HP:0030669	Abnormal ocular adnexa morphology	9739	SETD1A	OMIM:619056
HP:0030669	Abnormal ocular adnexa morphology	7490	WT1	OMIM:194080
HP:0030669	Abnormal ocular adnexa morphology	8546	AP3B1	OMIM:608233
HP:0030669	Abnormal ocular adnexa morphology	259232	NALCN	ORPHA:562528
HP:0030669	Abnormal ocular adnexa morphology	26523	AGO1	OMIM:620292
HP:0030669	Abnormal ocular adnexa morphology	29128	UHRF1	ORPHA:2268
HP:0030669	Abnormal ocular adnexa morphology	57167	SALL4	ORPHA:959
HP:0030669	Abnormal ocular adnexa morphology	57167	SALL4	OMIM:607323
HP:0030669	Abnormal ocular adnexa morphology	1857	DVL3	ORPHA:3107
HP:0030669	Abnormal ocular adnexa morphology	1857	DVL3	OMIM:616894
HP:0030669	Abnormal ocular adnexa morphology	2535	FZD2	ORPHA:3107
HP:0030669	Abnormal ocular adnexa morphology	6660	SOX5	OMIM:616803
HP:0030669	Abnormal ocular adnexa morphology	5828	PEX2	OMIM:614866
HP:0030669	Abnormal ocular adnexa morphology	5828	PEX2	ORPHA:912
HP:0030669	Abnormal ocular adnexa morphology	6804	STX1A	ORPHA:904
HP:0030669	Abnormal ocular adnexa morphology	7461	CLIP2	ORPHA:904
HP:0030669	Abnormal ocular adnexa morphology	84277	DNAJC30	ORPHA:904
HP:0030669	Abnormal ocular adnexa morphology	8468	FKBP6	ORPHA:904
HP:0030669	Abnormal ocular adnexa morphology	5982	RFC2	ORPHA:904
HP:0030669	Abnormal ocular adnexa morphology	2969	GTF2I	ORPHA:904
HP:0030669	Abnormal ocular adnexa morphology	3984	LIMK1	ORPHA:904
HP:0030669	Abnormal ocular adnexa morphology	9569	GTF2IRD1	ORPHA:904
HP:0030669	Abnormal ocular adnexa morphology	155382	VPS37D	ORPHA:904
HP:0030669	Abnormal ocular adnexa morphology	155368	METTL27	ORPHA:904
HP:0030669	Abnormal ocular adnexa morphology	114049	BUD23	ORPHA:904
HP:0030669	Abnormal ocular adnexa morphology	7458	EIF4H	ORPHA:904
HP:0030669	Abnormal ocular adnexa morphology	84163	GTF2IRD2	ORPHA:904
HP:0030669	Abnormal ocular adnexa morphology	26608	TBL2	ORPHA:904
HP:0030669	Abnormal ocular adnexa morphology	653361	NCF1	ORPHA:904
HP:0030669	Abnormal ocular adnexa morphology	135886	TMEM270	ORPHA:904
HP:0030669	Abnormal ocular adnexa morphology	9031	BAZ1B	ORPHA:904
HP:0030669	Abnormal ocular adnexa morphology	2006	ELN	ORPHA:904
HP:0030669	Abnormal ocular adnexa morphology	2006	ELN	OMIM:194050
HP:0030669	Abnormal ocular adnexa morphology	285175	UNC80	OMIM:616801
HP:0030669	Abnormal ocular adnexa morphology	6329	SCN4A	ORPHA:99735
HP:0030669	Abnormal ocular adnexa morphology	51611	DPH5	OMIM:620070
HP:0030669	Abnormal ocular adnexa morphology	5594	MAPK1	OMIM:619087
HP:0030669	Abnormal ocular adnexa morphology	51085	MLXIPL	OMIM:194050
HP:0030669	Abnormal ocular adnexa morphology	10430	TMEM147	OMIM:620075
HP:0030669	Abnormal ocular adnexa morphology	7355	SLC35A2	OMIM:300896
HP:0030669	Abnormal ocular adnexa morphology	26047	CNTNAP2	OMIM:610042
HP:0030669	Abnormal ocular adnexa morphology	8504	PEX3	OMIM:614882
HP:0030669	Abnormal ocular adnexa morphology	8504	PEX3	ORPHA:912
HP:0030669	Abnormal ocular adnexa morphology	5824	PEX19	OMIM:614886
HP:0030669	Abnormal ocular adnexa morphology	5824	PEX19	ORPHA:912
HP:0030669	Abnormal ocular adnexa morphology	50945	TBX22	ORPHA:921
HP:0030669	Abnormal ocular adnexa morphology	92154	MTSS2	OMIM:620086
HP:0030669	Abnormal ocular adnexa morphology	5631	PRPS1	OMIM:300661
HP:0030669	Abnormal ocular adnexa morphology	5781	PTPN11	OMIM:151100
HP:0030669	Abnormal ocular adnexa morphology	5781	PTPN11	OMIM:163950
HP:0030669	Abnormal ocular adnexa morphology	2703	GJA8	OMIM:612474
HP:0030669	Abnormal ocular adnexa morphology	2702	GJA5	OMIM:612474
HP:0030669	Abnormal ocular adnexa morphology	867	CBL	OMIM:613563
HP:0030669	Abnormal ocular adnexa morphology	2245	FGD1	ORPHA:915
HP:0030669	Abnormal ocular adnexa morphology	1134	CHRNA1	OMIM:253290
HP:0030669	Abnormal ocular adnexa morphology	1144	CHRND	OMIM:253290
HP:0030669	Abnormal ocular adnexa morphology	55670	PEX26	ORPHA:912
HP:0030669	Abnormal ocular adnexa morphology	8799	PEX11B	ORPHA:912
HP:0030669	Abnormal ocular adnexa morphology	9409	PEX16	ORPHA:912
HP:0030669	Abnormal ocular adnexa morphology	5193	PEX12	ORPHA:912
HP:0030669	Abnormal ocular adnexa morphology	5194	PEX13	ORPHA:912
HP:0030669	Abnormal ocular adnexa morphology	5195	PEX14	ORPHA:912
HP:0030669	Abnormal ocular adnexa morphology	5192	PEX10	ORPHA:912
HP:0030669	Abnormal ocular adnexa morphology	3720	JARID2	OMIM:620098
HP:0030669	Abnormal ocular adnexa morphology	65062	TMEM237	OMIM:614424
HP:0030669	Abnormal ocular adnexa morphology	85358	SHANK3	OMIM:606232
HP:0030669	Abnormal ocular adnexa morphology	5859	QARS1	OMIM:615760
HP:0030669	Abnormal ocular adnexa morphology	5053	PAH	ORPHA:2209
HP:0030669	Abnormal ocular adnexa morphology	101929726	MYMX	ORPHA:1358
HP:0030669	Abnormal ocular adnexa morphology	5925	RB1	ORPHA:1587
HP:0030669	Abnormal ocular adnexa morphology	23511	NUP188	OMIM:618804
HP:0030669	Abnormal ocular adnexa morphology	5604	MAP2K1	ORPHA:1340
HP:0030669	Abnormal ocular adnexa morphology	5604	MAP2K1	OMIM:163950
HP:0030669	Abnormal ocular adnexa morphology	64131	XYLT1	OMIM:615777
HP:0030669	Abnormal ocular adnexa morphology	54806	AHI1	OMIM:608629
HP:0030669	Abnormal ocular adnexa morphology	84342	COG8	OMIM:611182
HP:0030669	Abnormal ocular adnexa morphology	79796	ALG9	OMIM:263210
HP:0030669	Abnormal ocular adnexa morphology	7421	VDR	OMIM:277440
HP:0030669	Abnormal ocular adnexa morphology	5062	PAK2	ORPHA:1571
HP:0030669	Abnormal ocular adnexa morphology	55644	OSGEP	OMIM:617729
HP:0030669	Abnormal ocular adnexa morphology	6628	SNRPB	OMIM:117650
HP:0030669	Abnormal ocular adnexa morphology	8092	ALX1	ORPHA:306542
HP:0030669	Abnormal ocular adnexa morphology	51002	TPRKB	OMIM:617731
HP:0030669	Abnormal ocular adnexa morphology	4659	PPP1R12A	OMIM:618820
HP:0030669	Abnormal ocular adnexa morphology	8405	SPOP	OMIM:618828
HP:0030669	Abnormal ocular adnexa morphology	4796	TONSL	ORPHA:93357
HP:0030669	Abnormal ocular adnexa morphology	55704	CCDC88A	OMIM:617507
HP:0030669	Abnormal ocular adnexa morphology	6519	SLC3A1	ORPHA:163690
HP:0030669	Abnormal ocular adnexa morphology	9581	PREPL	ORPHA:163690
HP:0030669	Abnormal ocular adnexa morphology	4841	NONO	ORPHA:466791
HP:0030669	Abnormal ocular adnexa morphology	9320	TRIP12	OMIM:617752
HP:0030669	Abnormal ocular adnexa morphology	1663	DDX11	OMIM:613398
HP:0030669	Abnormal ocular adnexa morphology	5455	POU3F3	OMIM:618604
HP:0030669	Abnormal ocular adnexa morphology	2186	BPTF	OMIM:617755
HP:0030669	Abnormal ocular adnexa morphology	2990	GUSB	OMIM:253220
HP:0030669	Abnormal ocular adnexa morphology	738	VPS51	OMIM:618606
HP:0030669	Abnormal ocular adnexa morphology	9757	KMT2B	OMIM:619934
HP:0030669	Abnormal ocular adnexa morphology	7543	ZFX	OMIM:301118
HP:0030669	Abnormal ocular adnexa morphology	6736	SRY	ORPHA:1772
HP:0030669	Abnormal ocular adnexa morphology	51360	MBTPS2	ORPHA:2273
HP:0030669	Abnormal ocular adnexa morphology	29957	SLC25A24	ORPHA:2095
HP:0030669	Abnormal ocular adnexa morphology	157680	VPS13B	ORPHA:193
HP:0030669	Abnormal ocular adnexa morphology	8260	NAA10	OMIM:300855
HP:0030669	Abnormal ocular adnexa morphology	1593	CYP27A1	ORPHA:909
HP:0030669	Abnormal ocular adnexa morphology	2260	FGFR1	ORPHA:2396
HP:0030669	Abnormal ocular adnexa morphology	3845	KRAS	ORPHA:2396
HP:0030669	Abnormal ocular adnexa morphology	5189	PEX1	ORPHA:3220
HP:0030669	Abnormal ocular adnexa morphology	5190	PEX6	ORPHA:3220
HP:0030669	Abnormal ocular adnexa morphology	4683	NBN	ORPHA:647
HP:0030669	Abnormal ocular adnexa morphology	4621	MYH3	ORPHA:2990
HP:0030669	Abnormal ocular adnexa morphology	1146	CHRNG	ORPHA:2990
HP:0030669	Abnormal ocular adnexa morphology	672	BRCA1	ORPHA:84
HP:0030669	Abnormal ocular adnexa morphology	10459	MAD2L2	ORPHA:84
HP:0030669	Abnormal ocular adnexa morphology	7516	XRCC2	ORPHA:84
HP:0030669	Abnormal ocular adnexa morphology	29089	UBE2T	ORPHA:84
HP:0030669	Abnormal ocular adnexa morphology	675	BRCA2	ORPHA:84
HP:0030669	Abnormal ocular adnexa morphology	55120	FANCL	ORPHA:84
HP:0030669	Abnormal ocular adnexa morphology	2177	FANCD2	ORPHA:84
HP:0030669	Abnormal ocular adnexa morphology	2175	FANCA	ORPHA:84
HP:0030669	Abnormal ocular adnexa morphology	2187	FANCB	ORPHA:84
HP:0030669	Abnormal ocular adnexa morphology	2176	FANCC	ORPHA:84
HP:0030669	Abnormal ocular adnexa morphology	2178	FANCE	ORPHA:84
HP:0030669	Abnormal ocular adnexa morphology	2188	FANCF	ORPHA:84
HP:0030669	Abnormal ocular adnexa morphology	2189	FANCG	ORPHA:84
HP:0030669	Abnormal ocular adnexa morphology	5888	RAD51	ORPHA:84
HP:0030669	Abnormal ocular adnexa morphology	5889	RAD51C	ORPHA:84
HP:0030669	Abnormal ocular adnexa morphology	55159	RFWD3	ORPHA:84
HP:0030669	Abnormal ocular adnexa morphology	83990	BRIP1	ORPHA:84
HP:0030669	Abnormal ocular adnexa morphology	57697	FANCM	ORPHA:84
HP:0030669	Abnormal ocular adnexa morphology	79728	PALB2	ORPHA:84
HP:0030669	Abnormal ocular adnexa morphology	84464	SLX4	ORPHA:84
HP:0030669	Abnormal ocular adnexa morphology	2072	ERCC4	ORPHA:84
HP:0030669	Abnormal ocular adnexa morphology	55215	FANCI	ORPHA:84
HP:0030669	Abnormal ocular adnexa morphology	1312	COMT	ORPHA:567
HP:0030669	Abnormal ocular adnexa morphology	221037	JMJD1C	ORPHA:567
HP:0030669	Abnormal ocular adnexa morphology	2812	GP1BB	ORPHA:567
HP:0030669	Abnormal ocular adnexa morphology	6239	RREB1	ORPHA:567
HP:0030669	Abnormal ocular adnexa morphology	6899	TBX1	ORPHA:567
HP:0030669	Abnormal ocular adnexa morphology	7290	HIRA	ORPHA:567
HP:0030669	Abnormal ocular adnexa morphology	9632	SEC24C	ORPHA:567
HP:0030669	Abnormal ocular adnexa morphology	7353	UFD1	ORPHA:567
HP:0030669	Abnormal ocular adnexa morphology	421	ARVCF	ORPHA:567
HP:0030669	Abnormal ocular adnexa morphology	6843	VAMP1	ORPHA:251282
HP:0030669	Abnormal ocular adnexa morphology	54539	NDUFB11	ORPHA:2556
HP:0030669	Abnormal ocular adnexa morphology	1349	COX7B	ORPHA:2556
HP:0030669	Abnormal ocular adnexa morphology	3052	HCCS	ORPHA:2556
HP:0030669	Abnormal ocular adnexa morphology	55630	SLC39A4	ORPHA:37
HP:0030669	Abnormal ocular adnexa morphology	3832	KIF11	ORPHA:2526
HP:0030669	Abnormal ocular adnexa morphology	1493	CTLA4	ORPHA:2584
HP:0030669	Abnormal ocular adnexa morphology	940	CD28	ORPHA:2584
HP:0030669	Abnormal ocular adnexa morphology	7133	TNFRSF1B	ORPHA:2584
HP:0030669	Abnormal ocular adnexa morphology	1500	CTNND1	ORPHA:1997
HP:0030669	Abnormal ocular adnexa morphology	999	CDH1	ORPHA:1997
HP:0030669	Abnormal ocular adnexa morphology	340533	NEXMIF	OMIM:300912
HP:0030669	Abnormal ocular adnexa morphology	5927	KDM5A	OMIM:620820
HP:0030669	Abnormal ocular adnexa morphology	27245	AHDC1	ORPHA:412069
HP:0030669	Abnormal ocular adnexa morphology	27245	AHDC1	OMIM:615829
HP:0030669	Abnormal ocular adnexa morphology	55904	KMT2E	OMIM:618512
HP:0030669	Abnormal ocular adnexa morphology	2590	GALNT2	OMIM:618885
HP:0030669	Abnormal ocular adnexa morphology	5528	PPP2R5D	OMIM:616355
HP:0030669	Abnormal ocular adnexa morphology	5528	PPP2R5D	ORPHA:457279
HP:0030669	Abnormal ocular adnexa morphology	64121	RRAGC	OMIM:620609
HP:0030669	Abnormal ocular adnexa morphology	3737	KCNA2	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	10991	SLC38A3	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	51343	FZR1	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	3747	KCNC2	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	2561	GABRB2	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	8831	SYNGAP1	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	2558	GABRA5	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	2906	GRIN2D	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	116150	NUS1	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	1213	CLTC	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	348980	HCN1	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	25977	NECAP1	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	6334	SCN8A	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	9568	GABBR2	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	2555	GABRA2	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	55152	DALRD3	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	4915	NTRK2	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	25973	PARS2	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	2257	FGF12	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	5530	PPP3CA	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	22906	TRAK1	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	2566	GABRG2	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	7532	YWHAG	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	79876	UBA5	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	6328	SCN3A	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	781	CACNA2D1	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	10659	CELF2	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	774	CACNA1B	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	51412	ACTL6B	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	6506	SLC1A2	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	8867	SYNJ1	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	3745	KCNB1	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	284111	SLC13A5	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	22866	CNKSR2	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	6323	SCN1A	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	79947	DHDDS	ORPHA:442835
HP:0030669	Abnormal ocular adnexa morphology	4929	NR4A2	ORPHA:1617
HP:0030669	Abnormal ocular adnexa morphology	10716	TBR1	ORPHA:1617
HP:0030669	Abnormal ocular adnexa morphology	3476	IGBP1	ORPHA:52055
HP:0030669	Abnormal ocular adnexa morphology	3476	IGBP1	OMIM:300472
HP:0030669	Abnormal ocular adnexa morphology	23512	SUZ12	OMIM:618786
HP:0030669	Abnormal ocular adnexa morphology	23512	SUZ12	ORPHA:3447
HP:0030669	Abnormal ocular adnexa morphology	3590	IL11RA	OMIM:614188
HP:0030669	Abnormal ocular adnexa morphology	7862	BRPF1	OMIM:617333
HP:0030669	Abnormal ocular adnexa morphology	3572	IL6ST	OMIM:619750
HP:0030669	Abnormal ocular adnexa morphology	145258	GSC	OMIM:602471
HP:0030669	Abnormal ocular adnexa morphology	8314	BAP1	OMIM:619762
HP:0030669	Abnormal ocular adnexa morphology	4087	SMAD2	OMIM:619656
HP:0030669	Abnormal ocular adnexa morphology	8813	DPM1	ORPHA:79322
HP:0030669	Abnormal ocular adnexa morphology	8813	DPM1	OMIM:608799
HP:0030669	Abnormal ocular adnexa morphology	91252	SLC39A13	ORPHA:157965
HP:0030669	Abnormal ocular adnexa morphology	91252	SLC39A13	OMIM:612350
HP:0030669	Abnormal ocular adnexa morphology	7046	TGFBR1	OMIM:609192
HP:0030669	Abnormal ocular adnexa morphology	56896	DPYSL5	OMIM:619435
HP:0030669	Abnormal ocular adnexa morphology	56896	DPYSL5	ORPHA:7
HP:0030669	Abnormal ocular adnexa morphology	4598	MVK	ORPHA:29
HP:0030669	Abnormal ocular adnexa morphology	4598	MVK	OMIM:610377
HP:0030669	Abnormal ocular adnexa morphology	10765	KDM5B	OMIM:618109
HP:0030669	Abnormal ocular adnexa morphology	6418	SET	OMIM:618106
HP:0030669	Abnormal ocular adnexa morphology	7372	UMPS	ORPHA:30
HP:0030669	Abnormal ocular adnexa morphology	91754	NEK9	OMIM:617022
HP:0030669	Abnormal ocular adnexa morphology	9871	SEC24D	OMIM:616294
HP:0030669	Abnormal ocular adnexa morphology	9871	SEC24D	ORPHA:2050
HP:0030669	Abnormal ocular adnexa morphology	9342	SNAP29	ORPHA:66631
HP:0030669	Abnormal ocular adnexa morphology	9342	SNAP29	OMIM:609528
HP:0030669	Abnormal ocular adnexa morphology	161725	OTUD7A	OMIM:620790
HP:0030669	Abnormal ocular adnexa morphology	51132	RLIM	OMIM:300978
HP:0030669	Abnormal ocular adnexa morphology	5831	PYCR1	OMIM:612940
HP:0030669	Abnormal ocular adnexa morphology	201163	FLCN	OMIM:610883
HP:0030669	Abnormal ocular adnexa morphology	3183	HNRNPC	OMIM:620688
HP:0030669	Abnormal ocular adnexa morphology	92344	GORAB	OMIM:231070
HP:0030669	Abnormal ocular adnexa morphology	7136	TNNI2	OMIM:601680
HP:0030669	Abnormal ocular adnexa morphology	7703	PCGF2	OMIM:618371
HP:0030669	Abnormal ocular adnexa morphology	372	ARCN1	OMIM:617164
HP:0030669	Abnormal ocular adnexa morphology	633	BGN	OMIM:300989
HP:0030669	Abnormal ocular adnexa morphology	22808	MRAS	OMIM:618499
HP:0030669	Abnormal ocular adnexa morphology	22808	MRAS	ORPHA:648
HP:0030669	Abnormal ocular adnexa morphology	2475	MTOR	ORPHA:457485
HP:0030669	Abnormal ocular adnexa morphology	2475	MTOR	OMIM:616638
HP:0030669	Abnormal ocular adnexa morphology	91039	DPP9	OMIM:620331
HP:0030669	Abnormal ocular adnexa morphology	23594	ORC6	OMIM:613803
HP:0030669	Abnormal ocular adnexa morphology	5913	RAPSN	OMIM:618388
HP:0030669	Abnormal ocular adnexa morphology	285489	DOK7	OMIM:618389
HP:0030669	Abnormal ocular adnexa morphology	285590	SH3PXD2B	ORPHA:137834
HP:0030669	Abnormal ocular adnexa morphology	285590	SH3PXD2B	OMIM:249420
HP:0030669	Abnormal ocular adnexa morphology	23112	TNRC6B	OMIM:619243
HP:0030669	Abnormal ocular adnexa morphology	22995	CEP152	OMIM:613823
HP:0030669	Abnormal ocular adnexa morphology	22995	CEP152	ORPHA:808
HP:0030669	Abnormal ocular adnexa morphology	2733	GLE1	OMIM:611890
HP:0030669	Abnormal ocular adnexa morphology	22800	RRAS2	ORPHA:648
HP:0030669	Abnormal ocular adnexa morphology	6237	RRAS	ORPHA:648
HP:0030669	Abnormal ocular adnexa morphology	5922	RASA2	ORPHA:648
HP:0030669	Abnormal ocular adnexa morphology	84081	NSRP1	OMIM:620001
HP:0030669	Abnormal ocular adnexa morphology	9897	WASHC5	ORPHA:7
HP:0030669	Abnormal ocular adnexa morphology	9897	WASHC5	OMIM:220210
HP:0030669	Abnormal ocular adnexa morphology	28952	CCDC22	ORPHA:7
HP:0030669	Abnormal ocular adnexa morphology	80704	SLC19A3	ORPHA:263410
HP:0030669	Abnormal ocular adnexa morphology	51109	RDH11	ORPHA:436245
HP:0030669	Abnormal ocular adnexa morphology	7042	TGFB2	OMIM:614816
HP:0030669	Abnormal ocular adnexa morphology	54084	TSPEAR	OMIM:618180
HP:0030669	Abnormal ocular adnexa morphology	1183	CLCN4	OMIM:300114
HP:0030669	Abnormal ocular adnexa morphology	10491	CRTAP	ORPHA:2050
HP:0030669	Abnormal ocular adnexa morphology	5034	P4HB	ORPHA:2050
HP:0030669	Abnormal ocular adnexa morphology	84282	RNF135	ORPHA:137634
HP:0030669	Abnormal ocular adnexa morphology	8854	ALDH1A2	OMIM:620025
HP:0030669	Abnormal ocular adnexa morphology	1299	COL9A3	OMIM:620022
HP:0030669	Abnormal ocular adnexa morphology	10297	APC2	ORPHA:821
HP:0030669	Abnormal ocular adnexa morphology	23431	AP4E1	OMIM:613744
HP:0030669	Abnormal ocular adnexa morphology	150468	CKAP2L	ORPHA:3255
HP:0030669	Abnormal ocular adnexa morphology	271	AMPD2	OMIM:615809
HP:0030669	Abnormal ocular adnexa morphology	9382	COG1	OMIM:611209
HP:0030669	Abnormal ocular adnexa morphology	9382	COG1	ORPHA:263508
HP:0030669	Abnormal ocular adnexa morphology	4036	LRP2	ORPHA:2143
HP:0030669	Abnormal ocular adnexa morphology	4036	LRP2	OMIM:222448
HP:0030669	Abnormal ocular adnexa morphology	1302	COL11A2	ORPHA:2021
HP:0030669	Abnormal ocular adnexa morphology	657	BMPR1A	ORPHA:79076
HP:0030669	Abnormal ocular adnexa morphology	197257	LDHD	OMIM:245450
HP:0030669	Abnormal ocular adnexa morphology	55719	SLF2	OMIM:620184
HP:0030669	Abnormal ocular adnexa morphology	81031	SLC2A10	OMIM:208050
HP:0030669	Abnormal ocular adnexa morphology	9652	SKIC3	OMIM:222470
HP:0030669	Abnormal ocular adnexa morphology	545	ATR	ORPHA:808
HP:0030669	Abnormal ocular adnexa morphology	545	ATR	OMIM:210600
HP:0030669	Abnormal ocular adnexa morphology	1062	CENPE	ORPHA:808
HP:0030669	Abnormal ocular adnexa morphology	5932	RBBP8	ORPHA:808
HP:0030669	Abnormal ocular adnexa morphology	79902	NUP85	ORPHA:808
HP:0030669	Abnormal ocular adnexa morphology	84126	ATRIP	ORPHA:808
HP:0030669	Abnormal ocular adnexa morphology	10293	TRAIP	ORPHA:808
HP:0030669	Abnormal ocular adnexa morphology	84317	CCDC115	OMIM:616828
HP:0030669	Abnormal ocular adnexa morphology	84679	SLC9A7	OMIM:301024
HP:0030669	Abnormal ocular adnexa morphology	90161	HS6ST2	OMIM:301025
HP:0030669	Abnormal ocular adnexa morphology	63035	BCORL1	OMIM:301029
HP:0030669	Abnormal ocular adnexa morphology	1778	DYNC1H1	OMIM:614563
HP:0030669	Abnormal ocular adnexa morphology	538	ATP7A	ORPHA:198
HP:0030669	Abnormal ocular adnexa morphology	8929	PHOX2B	OMIM:209880
HP:0030669	Abnormal ocular adnexa morphology	1859	DYRK1A	OMIM:614104
HP:0030669	Abnormal ocular adnexa morphology	91461	PKDCC	OMIM:618821
HP:0030669	Abnormal ocular adnexa morphology	80152	CENPT	OMIM:618702
HP:0030669	Abnormal ocular adnexa morphology	23630	KCNE5	ORPHA:86818
HP:0030669	Abnormal ocular adnexa morphology	2182	ACSL4	ORPHA:86818
HP:0030669	Abnormal ocular adnexa morphology	8777	MPDZ	OMIM:615219
HP:0030669	Abnormal ocular adnexa morphology	139886	SPIN4	OMIM:301114
HP:0030669	Abnormal ocular adnexa morphology	5307	PITX1	OMIM:119800
HP:0030669	Abnormal ocular adnexa morphology	18	ABAT	OMIM:613163
HP:0030669	Abnormal ocular adnexa morphology	7043	TGFB3	OMIM:615582
HP:0030669	Abnormal ocular adnexa morphology	7545	ZIC1	OMIM:618736
HP:0030669	Abnormal ocular adnexa morphology	4858	NOVA2	OMIM:618859
HP:0030669	Abnormal ocular adnexa morphology	55753	OGDHL	OMIM:619701
HP:0030669	Abnormal ocular adnexa morphology	8626	TP63	OMIM:106260
HP:0030669	Abnormal ocular adnexa morphology	8626	TP63	OMIM:604292
HP:0030669	Abnormal ocular adnexa morphology	8626	TP63	ORPHA:69085
HP:0030669	Abnormal ocular adnexa morphology	8626	TP63	ORPHA:1896
HP:0030669	Abnormal ocular adnexa morphology	23476	BRD4	ORPHA:199
HP:0030669	Abnormal ocular adnexa morphology	8243	SMC1A	ORPHA:199
HP:0030669	Abnormal ocular adnexa morphology	6878	TAF6	ORPHA:199
HP:0030669	Abnormal ocular adnexa morphology	25836	NIPBL	ORPHA:199
HP:0030669	Abnormal ocular adnexa morphology	55869	HDAC8	ORPHA:199
HP:0030669	Abnormal ocular adnexa morphology	5885	RAD21	ORPHA:199
HP:0030669	Abnormal ocular adnexa morphology	348	APOE	ORPHA:158029
HP:0030669	Abnormal ocular adnexa morphology	6868	ADAM17	OMIM:614328
HP:0030669	Abnormal ocular adnexa morphology	6868	ADAM17	ORPHA:294023
HP:0030669	Abnormal ocular adnexa morphology	7454	WAS	ORPHA:906
HP:0030669	Abnormal ocular adnexa morphology	7456	WIPF1	ORPHA:906
HP:0030669	Abnormal ocular adnexa morphology	10095	ARPC1B	OMIM:617718
HP:0030669	Abnormal ocular adnexa morphology	10804	GJB6	OMIM:129500
HP:0030669	Abnormal ocular adnexa morphology	6768	ST14	OMIM:602400
HP:0030669	Abnormal ocular adnexa morphology	2137	EXTL3	OMIM:617425
HP:0030669	Abnormal ocular adnexa morphology	5333	PLCD1	ORPHA:2387
HP:0030669	Abnormal ocular adnexa morphology	10758	TRAF3IP2	OMIM:615527
HP:0030669	Abnormal ocular adnexa morphology	1474	CST6	OMIM:618535
HP:0030669	Abnormal ocular adnexa morphology	6307	MSMO1	OMIM:616834
HP:0030669	Abnormal ocular adnexa morphology	488	ATP2A2	ORPHA:218
HP:0030669	Abnormal ocular adnexa morphology	1956	EGFR	ORPHA:294023
HP:0030669	Abnormal ocular adnexa morphology	7507	XPA	ORPHA:910
HP:0030669	Abnormal ocular adnexa morphology	7508	XPC	ORPHA:910
HP:0030669	Abnormal ocular adnexa morphology	1643	DDB2	ORPHA:910
HP:0030669	Abnormal ocular adnexa morphology	2073	ERCC5	ORPHA:910
HP:0030669	Abnormal ocular adnexa morphology	85378	TUBGCP6	ORPHA:2518
HP:0030669	Abnormal ocular adnexa morphology	27229	TUBGCP4	ORPHA:2518
HP:0030669	Abnormal ocular adnexa morphology	10733	PLK4	ORPHA:2518
HP:0030669	Abnormal ocular adnexa morphology	124583	CANT1	ORPHA:1425
HP:0030669	Abnormal ocular adnexa morphology	55790	CSGALNACT1	ORPHA:1425
HP:0030669	Abnormal ocular adnexa morphology	427	ASAH1	ORPHA:333
HP:0030669	Abnormal ocular adnexa morphology	5308	PITX2	OMIM:180550
HP:0030669	Abnormal ocular adnexa morphology	3861	KRT14	OMIM:125595
HP:0030669	Abnormal ocular adnexa morphology	56244	BTNL2	ORPHA:797
HP:0030669	Abnormal ocular adnexa morphology	3123	HLA-DRB1	ORPHA:797
HP:0030669	Abnormal ocular adnexa morphology	3851	KRT4	OMIM:193900
HP:0030669	Abnormal ocular adnexa morphology	55129	ANO10	ORPHA:284289
HP:0030669	Abnormal ocular adnexa morphology	55129	ANO10	OMIM:613728
HP:0030669	Abnormal ocular adnexa morphology	4668	NAGA	OMIM:609242
HP:0030669	Abnormal ocular adnexa morphology	4126	MANBA	OMIM:248510
HP:0030669	Abnormal ocular adnexa morphology	10682	EBP	ORPHA:401973
HP:0030669	Abnormal ocular adnexa morphology	128	ADH5	OMIM:619151
HP:0030669	Abnormal ocular adnexa morphology	7528	YY1	ORPHA:506358
HP:0030669	Abnormal ocular adnexa morphology	7528	YY1	OMIM:617557
HP:0030669	Abnormal ocular adnexa morphology	23141	ANKLE2	OMIM:616681
HP:0030669	Abnormal ocular adnexa morphology	894	CCND2	ORPHA:83473
HP:0030669	Abnormal ocular adnexa morphology	5296	PIK3R2	ORPHA:83473
HP:0030669	Abnormal ocular adnexa morphology	10000	AKT3	ORPHA:83473
HP:0030669	Abnormal ocular adnexa morphology	56172	ANKH	ORPHA:1522
HP:0030669	Abnormal ocular adnexa morphology	56172	ANKH	OMIM:123000
HP:0030669	Abnormal ocular adnexa morphology	26128	KIFBP	OMIM:609460
HP:0030669	Abnormal ocular adnexa morphology	3008	H1-4	OMIM:617537
HP:0030669	Abnormal ocular adnexa morphology	4281	MID1	OMIM:300000
HP:0030669	Abnormal ocular adnexa morphology	4281	MID1	ORPHA:2745
HP:0030669	Abnormal ocular adnexa morphology	2737	GLI3	ORPHA:380
HP:0030669	Abnormal ocular adnexa morphology	2317	FLNB	ORPHA:1190
HP:0030669	Abnormal ocular adnexa morphology	4010	LMX1B	ORPHA:495818
HP:0030669	Abnormal ocular adnexa morphology	6812	STXBP1	ORPHA:495818
HP:0030669	Abnormal ocular adnexa morphology	79029	AFG2B	OMIM:619616
HP:0030669	Abnormal ocular adnexa morphology	7020	TFAP2A	OMIM:113620
HP:0030669	Abnormal ocular adnexa morphology	55148	UBR7	OMIM:619189
HP:0030669	Abnormal ocular adnexa morphology	1009	CDH11	ORPHA:1299
HP:0030669	Abnormal ocular adnexa morphology	2783	GNB2	OMIM:619503
HP:0030669	Abnormal ocular adnexa morphology	26005	C2CD3	OMIM:615948
HP:0030669	Abnormal ocular adnexa morphology	26005	C2CD3	ORPHA:434179
HP:0030669	Abnormal ocular adnexa morphology	3782	KCNN3	ORPHA:3473
HP:0030669	Abnormal ocular adnexa morphology	1947	EFNB1	OMIM:304110
HP:0030669	Abnormal ocular adnexa morphology	4593	MUSK	OMIM:208150
HP:0030669	Abnormal ocular adnexa morphology	23259	DDHD2	OMIM:615033
HP:0030669	Abnormal ocular adnexa morphology	8239	USP9X	ORPHA:480880
HP:0030669	Abnormal ocular adnexa morphology	9091	PIGQ	OMIM:618548
HP:0030669	Abnormal ocular adnexa morphology	10236	HNRNPR	OMIM:620073
HP:0030669	Abnormal ocular adnexa morphology	79718	TBL1XR1	OMIM:602342
HP:0030669	Abnormal ocular adnexa morphology	79718	TBL1XR1	ORPHA:487825
HP:0030669	Abnormal ocular adnexa morphology	1654	DDX3X	ORPHA:3338
HP:0030669	Abnormal ocular adnexa morphology	92002	CCNQ	ORPHA:140952
HP:0030669	Abnormal ocular adnexa morphology	92002	CCNQ	OMIM:300707
HP:0030669	Abnormal ocular adnexa morphology	57688	ZSWIM6	OMIM:603671
HP:0030669	Abnormal ocular adnexa morphology	57688	ZSWIM6	ORPHA:1827
HP:0030669	Abnormal ocular adnexa morphology	668	FOXL2	ORPHA:572333
HP:0030669	Abnormal ocular adnexa morphology	668	FOXL2	OMIM:110100
HP:0030669	Abnormal ocular adnexa morphology	54941	RNF125	OMIM:616260
HP:0030669	Abnormal ocular adnexa morphology	5077	PAX3	OMIM:193500
HP:0030669	Abnormal ocular adnexa morphology	5077	PAX3	ORPHA:896
HP:0030669	Abnormal ocular adnexa morphology	5077	PAX3	OMIM:148820
HP:0030669	Abnormal ocular adnexa morphology	5077	PAX3	ORPHA:894
HP:0030669	Abnormal ocular adnexa morphology	5077	PAX3	OMIM:122880
HP:0030669	Abnormal ocular adnexa morphology	85440	DOCK7	OMIM:615859
HP:0030669	Abnormal ocular adnexa morphology	85440	DOCK7	ORPHA:411986
HP:0030669	Abnormal ocular adnexa morphology	29123	ANKRD11	OMIM:148050
HP:0030669	Abnormal ocular adnexa morphology	29123	ANKRD11	ORPHA:2332
HP:0030669	Abnormal ocular adnexa morphology	51013	EXOSC1	OMIM:619304
HP:0030669	Abnormal ocular adnexa morphology	84181	CHD6	ORPHA:2108
HP:0030669	Abnormal ocular adnexa morphology	5648	MASP1	OMIM:257920
HP:0030669	Abnormal ocular adnexa morphology	5648	MASP1	ORPHA:293843
HP:0030669	Abnormal ocular adnexa morphology	2202	EFEMP1	OMIM:620780
HP:0030669	Abnormal ocular adnexa morphology	55593	OTUD5	OMIM:301056
HP:0030669	Abnormal ocular adnexa morphology	2296	FOXC1	ORPHA:782
HP:0030669	Abnormal ocular adnexa morphology	4750	NEK1	OMIM:252100
HP:0030669	Abnormal ocular adnexa morphology	4750	NEK1	ORPHA:2751
HP:0030669	Abnormal ocular adnexa morphology	3417	IDH1	ORPHA:99646
HP:0030669	Abnormal ocular adnexa morphology	10265	IRX5	OMIM:611174
HP:0030669	Abnormal ocular adnexa morphology	29940	DSE	OMIM:615539
HP:0030669	Abnormal ocular adnexa morphology	1000	CDH2	OMIM:618929
HP:0030669	Abnormal ocular adnexa morphology	5745	PTH1R	ORPHA:50945
HP:0030669	Abnormal ocular adnexa morphology	5332	PLCB4	OMIM:620458
HP:0030669	Abnormal ocular adnexa morphology	9419	CRIPT	OMIM:615789
HP:0030669	Abnormal ocular adnexa morphology	80036	TRPM3	OMIM:620224
HP:0030669	Abnormal ocular adnexa morphology	9935	MAFB	ORPHA:2774
HP:0030669	Abnormal ocular adnexa morphology	113189	CHST14	OMIM:601776
HP:0030669	Abnormal ocular adnexa morphology	114928	GPRASP2	OMIM:301018
HP:0030669	Abnormal ocular adnexa morphology	202018	TAPT1	OMIM:616897
HP:0030669	Abnormal ocular adnexa morphology	2890	GRIA1	OMIM:619927
HP:0030669	Abnormal ocular adnexa morphology	7299	TYR	ORPHA:895
HP:0030669	Abnormal ocular adnexa morphology	6591	SNAI2	ORPHA:895
HP:0030669	Abnormal ocular adnexa morphology	4254	KITLG	ORPHA:895
HP:0030669	Abnormal ocular adnexa morphology	4254	KITLG	OMIM:619947
HP:0030669	Abnormal ocular adnexa morphology	403	ARL3	OMIM:618161
HP:0030669	Abnormal ocular adnexa morphology	55733	HHAT	ORPHA:1422
HP:0030669	Abnormal ocular adnexa morphology	10269	ZMPSTE24	ORPHA:1662
HP:0030669	Abnormal ocular adnexa morphology	170692	ADAMTS18	OMIM:615458
HP:0030669	Abnormal ocular adnexa morphology	10584	COLEC10	ORPHA:293843
HP:0030669	Abnormal ocular adnexa morphology	78989	COLEC11	ORPHA:293843
HP:0030669	Abnormal ocular adnexa morphology	23102	TBC1D2B	ORPHA:397973
HP:0030669	Abnormal ocular adnexa morphology	4654	MYOD1	OMIM:618975
HP:0030669	Abnormal ocular adnexa morphology	2110	ETFDH	OMIM:231680
HP:0030669	Abnormal ocular adnexa morphology	2108	ETFA	OMIM:231680
HP:0030669	Abnormal ocular adnexa morphology	2109	ETFB	OMIM:231680
HP:0030669	Abnormal ocular adnexa morphology	246329	STAC3	OMIM:255995
HP:0030669	Abnormal ocular adnexa morphology	90952	ESAM	OMIM:620371
HP:0030669	Abnormal ocular adnexa morphology	695	BTK	OMIM:300755
HP:0030669	Abnormal ocular adnexa morphology	695	BTK	ORPHA:47
HP:0030669	Abnormal ocular adnexa morphology	695	BTK	OMIM:307200
HP:0030669	Abnormal ocular adnexa morphology	114548	NLRP3	OMIM:617772
HP:0030669	Abnormal ocular adnexa morphology	114548	NLRP3	ORPHA:575
HP:0030669	Abnormal ocular adnexa morphology	114548	NLRP3	ORPHA:47045
HP:0030669	Abnormal ocular adnexa morphology	114548	NLRP3	OMIM:191900
HP:0030669	Abnormal ocular adnexa morphology	114548	NLRP3	OMIM:120100
HP:0030669	Abnormal ocular adnexa morphology	987	LRBA	OMIM:614700
HP:0030669	Abnormal ocular adnexa morphology	1776	DNASE1L3	ORPHA:36412
HP:0030669	Abnormal ocular adnexa morphology	2778	GNAS	ORPHA:94089
HP:0030669	Abnormal ocular adnexa morphology	2778	GNAS	ORPHA:79443
HP:0030669	Abnormal ocular adnexa morphology	2778	GNAS	ORPHA:79444
HP:0030669	Abnormal ocular adnexa morphology	8675	STX16	ORPHA:94089
HP:0030669	Abnormal ocular adnexa morphology	22947	DUX4L1	ORPHA:269
HP:0030669	Abnormal ocular adnexa morphology	2483	FRG1	ORPHA:269
HP:0030669	Abnormal ocular adnexa morphology	23347	SMCHD1	ORPHA:269
HP:0030669	Abnormal ocular adnexa morphology	100288687	DUX4	ORPHA:269
HP:0030669	Abnormal ocular adnexa morphology	1161	ERCC8	ORPHA:90321
HP:0030669	Abnormal ocular adnexa morphology	1161	ERCC8	ORPHA:90322
HP:0030669	Abnormal ocular adnexa morphology	2067	ERCC1	ORPHA:90322
HP:0030669	Abnormal ocular adnexa morphology	5896	RAG1	OMIM:601457
HP:0030669	Abnormal ocular adnexa morphology	5897	RAG2	OMIM:601457
HP:0030669	Abnormal ocular adnexa morphology	1294	COL7A1	OMIM:226600
HP:0030669	Abnormal ocular adnexa morphology	162	AP1B1	OMIM:242150
HP:0030669	Abnormal ocular adnexa morphology	7132	TNFRSF1A	ORPHA:32960
HP:0030669	Abnormal ocular adnexa morphology	7132	TNFRSF1A	OMIM:142680
HP:0030669	Abnormal ocular adnexa morphology	7086	TKT	ORPHA:488618
HP:0030669	Abnormal ocular adnexa morphology	115650	TNFRSF13C	OMIM:240500
HP:0030669	Abnormal ocular adnexa morphology	29851	ICOS	OMIM:240500
HP:0030669	Abnormal ocular adnexa morphology	29851	ICOS	OMIM:607594
HP:0030669	Abnormal ocular adnexa morphology	930	CD19	OMIM:240500
HP:0030669	Abnormal ocular adnexa morphology	930	CD19	OMIM:613493
HP:0030669	Abnormal ocular adnexa morphology	23495	TNFRSF13B	OMIM:240500
HP:0030669	Abnormal ocular adnexa morphology	1380	CR2	OMIM:240500
HP:0030669	Abnormal ocular adnexa morphology	7037	TFRC	OMIM:616740
HP:0030669	Abnormal ocular adnexa morphology	686	BTD	OMIM:253260
HP:0030669	Abnormal ocular adnexa morphology	686	BTD	ORPHA:79241
HP:0030669	Abnormal ocular adnexa morphology	2077	ERF	ORPHA:207
HP:0030669	Abnormal ocular adnexa morphology	2706	GJB2	ORPHA:477
HP:0030669	Abnormal ocular adnexa morphology	8676	STX11	OMIM:603552
HP:0030669	Abnormal ocular adnexa morphology	5075	PAX1	OMIM:615560
HP:0030669	Abnormal ocular adnexa morphology	5340	PLG	OMIM:217090
HP:0030669	Abnormal ocular adnexa morphology	5692	PSMB4	OMIM:617591
HP:0030669	Abnormal ocular adnexa morphology	29110	TBK1	OMIM:620880
HP:0030669	Abnormal ocular adnexa morphology	54809	SAMD9	OMIM:610455
HP:0030669	Abnormal ocular adnexa morphology	5696	PSMB8	OMIM:256040
HP:0030669	Abnormal ocular adnexa morphology	4067	LYN	OMIM:620376
HP:0030669	Abnormal ocular adnexa morphology	3321	IGSF3	OMIM:149700
HP:0030669	Abnormal ocular adnexa morphology	94	ACVRL1	OMIM:600376
HP:0030669	Abnormal ocular adnexa morphology	94	ACVRL1	ORPHA:774
HP:0030669	Abnormal ocular adnexa morphology	2658	GDF2	ORPHA:774
HP:0030669	Abnormal ocular adnexa morphology	2022	ENG	ORPHA:774
HP:0030669	Abnormal ocular adnexa morphology	2022	ENG	OMIM:187300
HP:0030669	Abnormal ocular adnexa morphology	3978	LIG1	OMIM:619774
HP:0030669	Abnormal ocular adnexa morphology	23328	SASH1	OMIM:618373
HP:0030669	Abnormal ocular adnexa morphology	472	ATM	OMIM:208900
HP:0030669	Abnormal ocular adnexa morphology	23064	SETX	OMIM:606002
HP:0030669	Abnormal ocular adnexa morphology	165918	RNF168	ORPHA:420741
HP:0030669	Abnormal ocular adnexa morphology	5111	PCNA	OMIM:615919
HP:0030669	Abnormal ocular adnexa morphology	5476	CTSA	OMIM:256540
HP:0030669	Abnormal ocular adnexa morphology	2717	GLA	ORPHA:324
HP:0030669	Abnormal ocular adnexa morphology	2776	GNAQ	ORPHA:3205
HP:0030669	Abnormal ocular adnexa morphology	6536	SLC6A9	OMIM:617301
HP:0030669	Abnormal ocular adnexa morphology	2250	FGF5	OMIM:190330
HP:0030669	Abnormal ocular adnexa morphology	4998	ORC1	OMIM:224690
HP:0030669	Abnormal ocular adnexa morphology	8120	AP3B2	OMIM:617276
HP:0030669	Abnormal ocular adnexa morphology	55603	TENT5A	OMIM:617952
HP:0030669	Abnormal ocular adnexa morphology	7841	MOGS	OMIM:606056
HP:0030669	Abnormal ocular adnexa morphology	7841	MOGS	ORPHA:79330
HP:0030669	Abnormal ocular adnexa morphology	22872	SEC31A	OMIM:618651
HP:0030669	Abnormal ocular adnexa morphology	649	BMP1	OMIM:614856
HP:0030669	Abnormal ocular adnexa morphology	149371	EXOC8	OMIM:619076
HP:0030669	Abnormal ocular adnexa morphology	92609	TIMM50	OMIM:617698
HP:0030669	Abnormal ocular adnexa morphology	5495	PPM1B	ORPHA:163693
HP:0030669	Abnormal ocular adnexa morphology	79823	CAMKMT	ORPHA:163693
HP:0030669	Abnormal ocular adnexa morphology	10463	SLC30A9	OMIM:617595
HP:0030669	Abnormal ocular adnexa morphology	29071	C1GALT1C1	OMIM:301110
HP:0030669	Abnormal ocular adnexa morphology	84842	HPDL	OMIM:619026
HP:0030669	Abnormal ocular adnexa morphology	5881	RAC3	OMIM:618577
HP:0030669	Abnormal ocular adnexa morphology	9181	ARHGEF2	OMIM:617523
HP:0030669	Abnormal ocular adnexa morphology	7407	VARS1	OMIM:617802
HP:0030669	Abnormal ocular adnexa morphology	147409	DSG4	ORPHA:573
HP:0030669	Abnormal ocular adnexa morphology	3892	KRT86	ORPHA:573
HP:0030669	Abnormal ocular adnexa morphology	3889	KRT83	ORPHA:573
HP:0030669	Abnormal ocular adnexa morphology	3887	KRT81	ORPHA:573
HP:0030669	Abnormal ocular adnexa morphology	1041	CDSN	ORPHA:90368
HP:0030669	Abnormal ocular adnexa morphology	121391	KRT74	ORPHA:90368
HP:0030669	Abnormal ocular adnexa morphology	121391	KRT74	OMIM:194300
HP:0030669	Abnormal ocular adnexa morphology	6663	SOX10	ORPHA:163746
HP:0030669	Abnormal ocular adnexa morphology	6663	SOX10	ORPHA:897
HP:0030669	Abnormal ocular adnexa morphology	5590	PRKCZ	ORPHA:1606
HP:0030669	Abnormal ocular adnexa morphology	2563	GABRD	ORPHA:1606
HP:0030669	Abnormal ocular adnexa morphology	23013	SPEN	ORPHA:1606
HP:0030669	Abnormal ocular adnexa morphology	8510	MMP23B	ORPHA:1606
HP:0030669	Abnormal ocular adnexa morphology	7798	LUZP1	ORPHA:1606
HP:0030669	Abnormal ocular adnexa morphology	6497	SKI	ORPHA:1606
HP:0030669	Abnormal ocular adnexa morphology	10630	PDPN	ORPHA:1606
HP:0030669	Abnormal ocular adnexa morphology	3339	HSPG2	ORPHA:1606
HP:0030669	Abnormal ocular adnexa morphology	3339	HSPG2	ORPHA:800
HP:0030669	Abnormal ocular adnexa morphology	10277	UBE4B	ORPHA:1606
HP:0030669	Abnormal ocular adnexa morphology	8514	KCNAB2	ORPHA:1606
HP:0030669	Abnormal ocular adnexa morphology	473	RERE	ORPHA:1606
HP:0030669	Abnormal ocular adnexa morphology	63976	PRDM16	ORPHA:1606
HP:0030669	Abnormal ocular adnexa morphology	54897	CASZ1	ORPHA:1606
HP:0030669	Abnormal ocular adnexa morphology	2200	FBN1	ORPHA:969
HP:0030669	Abnormal ocular adnexa morphology	4054	LTBP3	ORPHA:969
HP:0030669	Abnormal ocular adnexa morphology	157570	ESCO2	ORPHA:2319
HP:0030669	Abnormal ocular adnexa morphology	64093	SMOC1	ORPHA:1106
HP:0030669	Abnormal ocular adnexa morphology	374879	ZNF699	OMIM:619488
HP:0030669	Abnormal ocular adnexa morphology	91179	SCARF2	OMIM:600920
HP:0030669	Abnormal ocular adnexa morphology	80169	CTC1	ORPHA:1775
HP:0030669	Abnormal ocular adnexa morphology	26277	TINF2	ORPHA:1775
HP:0030669	Abnormal ocular adnexa morphology	55651	NHP2	ORPHA:1775
HP:0030669	Abnormal ocular adnexa morphology	79650	USB1	ORPHA:1775
HP:0030669	Abnormal ocular adnexa morphology	55135	WRAP53	ORPHA:1775
HP:0030669	Abnormal ocular adnexa morphology	51750	RTEL1	ORPHA:1775
HP:0030669	Abnormal ocular adnexa morphology	4869	NPM1	ORPHA:1775
HP:0030669	Abnormal ocular adnexa morphology	7012	TERC	ORPHA:1775
HP:0030669	Abnormal ocular adnexa morphology	55505	NOP10	ORPHA:1775
HP:0030669	Abnormal ocular adnexa morphology	5073	PARN	ORPHA:1775
HP:0030669	Abnormal ocular adnexa morphology	7015	TERT	ORPHA:1775
HP:0030669	Abnormal ocular adnexa morphology	1736	DKC1	ORPHA:1775
HP:0030669	Abnormal ocular adnexa morphology	7298	TYMS	ORPHA:1775
HP:0030669	Abnormal ocular adnexa morphology	355	FAS	ORPHA:3437
HP:0030669	Abnormal ocular adnexa morphology	26191	PTPN22	ORPHA:3437
HP:0030669	Abnormal ocular adnexa morphology	55315	SLC29A3	ORPHA:168569
HP:0030669	Abnormal ocular adnexa morphology	64132	XYLT2	ORPHA:85194
HP:0030669	Abnormal ocular adnexa morphology	4000	LMNA	ORPHA:90153
HP:0030669	Abnormal ocular adnexa morphology	1908	EDN3	ORPHA:897
HP:0030669	Abnormal ocular adnexa morphology	4286	MITF	ORPHA:897
HP:0030669	Abnormal ocular adnexa morphology	1910	EDNRB	ORPHA:897
HP:0030669	Abnormal ocular adnexa morphology	10736	SIX2	ORPHA:488437
HP:0030669	Abnormal ocular adnexa morphology	10075	HUWE1	OMIM:309590
HP:0030669	Abnormal ocular adnexa morphology	9131	AIFM1	OMIM:300232
HP:0030669	Abnormal ocular adnexa morphology	9853	RUSC2	OMIM:617773
HP:0030669	Abnormal ocular adnexa morphology	9820	CUL7	ORPHA:2616
HP:0030669	Abnormal ocular adnexa morphology	9820	CUL7	OMIM:273750
HP:0030669	Abnormal ocular adnexa morphology	23363	OBSL1	ORPHA:2616
HP:0030669	Abnormal ocular adnexa morphology	83987	CCDC8	ORPHA:2616
HP:0030669	Abnormal ocular adnexa morphology	10973	ASCC3	OMIM:620700
HP:0030669	Abnormal ocular adnexa morphology	4897	NRCAM	OMIM:619833
HP:0030669	Abnormal ocular adnexa morphology	7021	TFAP2B	OMIM:169100
HP:0030669	Abnormal ocular adnexa morphology	10479	SLC9A6	OMIM:300243
HP:0030669	Abnormal ocular adnexa morphology	10479	SLC9A6	ORPHA:85278
HP:0030669	Abnormal ocular adnexa morphology	23384	SPECC1L	ORPHA:1519
HP:0030669	Abnormal ocular adnexa morphology	57082	KNL1	OMIM:604321
HP:0030669	Abnormal ocular adnexa morphology	5119	CHMP1A	OMIM:614961
HP:0030669	Abnormal ocular adnexa morphology	55699	IARS2	ORPHA:436174
HP:0030669	Abnormal ocular adnexa morphology	55699	IARS2	OMIM:616007
HP:0030669	Abnormal ocular adnexa morphology	10015	PDCD6IP	OMIM:620047
HP:0030669	Abnormal ocular adnexa morphology	8289	ARID1A	OMIM:614607
HP:0030669	Abnormal ocular adnexa morphology	8289	ARID1A	ORPHA:1465
HP:0030669	Abnormal ocular adnexa morphology	6598	SMARCB1	OMIM:614608
HP:0030669	Abnormal ocular adnexa morphology	6598	SMARCB1	ORPHA:1465
HP:0030669	Abnormal ocular adnexa morphology	6597	SMARCA4	OMIM:614609
HP:0030669	Abnormal ocular adnexa morphology	6597	SMARCA4	ORPHA:1465
HP:0030669	Abnormal ocular adnexa morphology	4330	MN1	OMIM:618774
HP:0030669	Abnormal ocular adnexa morphology	4247	MGAT2	OMIM:212066
HP:0030669	Abnormal ocular adnexa morphology	388662	SLC6A17	ORPHA:457212
HP:0030669	Abnormal ocular adnexa morphology	55280	CWF19L1	OMIM:616127
HP:0030669	Abnormal ocular adnexa morphology	27125	AFF4	OMIM:616368
HP:0030669	Abnormal ocular adnexa morphology	27125	AFF4	ORPHA:444077
HP:0030669	Abnormal ocular adnexa morphology	9681	DEPDC5	OMIM:620504
HP:0030669	Abnormal ocular adnexa morphology	5593	PRKG2	OMIM:619636
HP:0030669	Abnormal ocular adnexa morphology	285362	SUMF1	ORPHA:585
HP:0030669	Abnormal ocular adnexa morphology	5700	PSMC1	OMIM:620071
HP:0030669	Abnormal ocular adnexa morphology	4089	SMAD4	OMIM:139210
HP:0030669	Abnormal ocular adnexa morphology	253959	RALGAPA1	OMIM:618797
HP:0030669	Abnormal ocular adnexa morphology	81887	LAS1L	ORPHA:3459
HP:0030669	Abnormal ocular adnexa morphology	81887	LAS1L	OMIM:309585
HP:0030669	Abnormal ocular adnexa morphology	6605	SMARCE1	OMIM:616938
HP:0030669	Abnormal ocular adnexa morphology	6605	SMARCE1	ORPHA:1465
HP:0030669	Abnormal ocular adnexa morphology	4208	MEF2C	ORPHA:228384
HP:0030669	Abnormal ocular adnexa morphology	8242	KDM5C	OMIM:300534
HP:0030669	Abnormal ocular adnexa morphology	23162	MAPK8IP3	OMIM:618443
HP:0030669	Abnormal ocular adnexa morphology	79791	FBXO31	OMIM:615979
HP:0030669	Abnormal ocular adnexa morphology	84295	PHF6	ORPHA:127
HP:0030669	Abnormal ocular adnexa morphology	11338	U2AF2	OMIM:620535
HP:0030669	Abnormal ocular adnexa morphology	11160	ERLIN2	ORPHA:280384
HP:0030669	Abnormal ocular adnexa morphology	11160	ERLIN2	ORPHA:209951
HP:0030669	Abnormal ocular adnexa morphology	6492	SIM1	ORPHA:171829
HP:0030669	Abnormal ocular adnexa morphology	83479	DDX59	OMIM:174300
HP:0030669	Abnormal ocular adnexa morphology	54808	DYM	OMIM:223800
HP:0030669	Abnormal ocular adnexa morphology	55777	MBD5	OMIM:156200
HP:0030669	Abnormal ocular adnexa morphology	6601	SMARCC2	OMIM:618362
HP:0030669	Abnormal ocular adnexa morphology	6601	SMARCC2	ORPHA:1465
HP:0030669	Abnormal ocular adnexa morphology	6602	SMARCD1	ORPHA:1465
HP:0030669	Abnormal ocular adnexa morphology	6664	SOX11	ORPHA:1465
HP:0030669	Abnormal ocular adnexa morphology	23258	DENND5A	OMIM:617281
HP:0030669	Abnormal ocular adnexa morphology	8091	HMGA2	ORPHA:94063
HP:0030669	Abnormal ocular adnexa morphology	23592	LEMD3	ORPHA:94063
HP:0030669	Abnormal ocular adnexa morphology	1105	CHD1	ORPHA:529965
HP:0030669	Abnormal ocular adnexa morphology	5718	PSMD12	ORPHA:529962
HP:0030669	Abnormal ocular adnexa morphology	6304	SATB1	OMIM:619229
HP:0030669	Abnormal ocular adnexa morphology	54551	MAGEL2	OMIM:615547
HP:0030669	Abnormal ocular adnexa morphology	50801	KCNK4	OMIM:618381
HP:0030669	Abnormal ocular adnexa morphology	2517	FUCA1	OMIM:230000
HP:0030669	Abnormal ocular adnexa morphology	54361	WNT4	ORPHA:247768
HP:0030669	Abnormal ocular adnexa morphology	50937	CDON	OMIM:614226
HP:0030669	Abnormal ocular adnexa morphology	3425	IDUA	ORPHA:93473
HP:0030669	Abnormal ocular adnexa morphology	2131	EXT1	ORPHA:502
HP:0030669	Abnormal ocular adnexa morphology	7227	TRPS1	ORPHA:502
HP:0030669	Abnormal ocular adnexa morphology	23067	SETD1B	OMIM:619000
HP:0030669	Abnormal ocular adnexa morphology	2799	GNS	OMIM:252940
HP:0030669	Abnormal ocular adnexa morphology	2273	FHL1	OMIM:300280
HP:0030669	Abnormal ocular adnexa morphology	8241	RBM10	ORPHA:2886
HP:0030669	Abnormal ocular adnexa morphology	4848	CNOT2	OMIM:618608
HP:0030669	Abnormal ocular adnexa morphology	9469	CHST3	OMIM:245600
HP:0030669	Abnormal ocular adnexa morphology	26229	B3GAT3	OMIM:245600
HP:0030669	Abnormal ocular adnexa morphology	55331	ACER3	OMIM:617762
HP:0030669	Abnormal ocular adnexa morphology	10844	TUBGCP2	OMIM:618737
HP:0030669	Abnormal ocular adnexa morphology	58508	KMT2C	OMIM:617768
HP:0030669	Abnormal ocular adnexa morphology	3480	IGF1R	OMIM:270450
HP:0030669	Abnormal ocular adnexa morphology	3115	HLA-DPB1	ORPHA:900
HP:0030669	Abnormal ocular adnexa morphology	5657	PRTN3	ORPHA:900
HP:0030669	Abnormal ocular adnexa morphology	3113	HLA-DPA1	ORPHA:900
HP:0030669	Abnormal ocular adnexa morphology	3166	HMX1	OMIM:612109
HP:0030669	Abnormal ocular adnexa morphology	199857	ALG14	OMIM:619036
HP:0030669	Abnormal ocular adnexa morphology	64220	STRA6	OMIM:601186
HP:0030669	Abnormal ocular adnexa morphology	1123	CHN1	ORPHA:233
HP:0030669	Abnormal ocular adnexa morphology	6608	SMO	OMIM:601707
HP:0030669	Abnormal ocular adnexa morphology	10907	TXNL4A	OMIM:608572
HP:0030669	Abnormal ocular adnexa morphology	54487	DGCR8	OMIM:192430
HP:0030669	Abnormal ocular adnexa morphology	8214	DGCR6	OMIM:192430
HP:0030669	Abnormal ocular adnexa morphology	8220	ESS2	OMIM:192430
HP:0030669	Abnormal ocular adnexa morphology	9993	DGCR2	OMIM:192430
HP:0030669	Abnormal ocular adnexa morphology	27238	GPKOW	ORPHA:2570
HP:0030669	Abnormal ocular adnexa morphology	3759	KCNJ2	OMIM:170390
HP:0030669	Abnormal ocular adnexa morphology	29895	MYL11	OMIM:619110
HP:0030669	Abnormal ocular adnexa morphology	22931	RAB18	OMIM:614222
HP:0030669	Abnormal ocular adnexa morphology	5557	PRIM1	OMIM:620005
HP:0030669	Abnormal ocular adnexa morphology	6913	TBX15	ORPHA:93333
HP:0030669	Abnormal ocular adnexa morphology	6913	TBX15	OMIM:260660
HP:0030669	Abnormal ocular adnexa morphology	104	ADARB1	OMIM:618862
HP:0030669	Abnormal ocular adnexa morphology	5191	PEX7	OMIM:215100
HP:0030669	Abnormal ocular adnexa morphology	3043	HBB	ORPHA:231214
HP:0030669	Abnormal ocular adnexa morphology	3043	HBB	ORPHA:231226
HP:0030669	Abnormal ocular adnexa morphology	84879	MFSD2A	OMIM:616486
HP:0030669	Abnormal ocular adnexa morphology	84879	MFSD2A	ORPHA:2512
HP:0030669	Abnormal ocular adnexa morphology	116115	ZNF526	OMIM:619877
HP:0030669	Abnormal ocular adnexa morphology	8364	H4C3	OMIM:619758
HP:0030669	Abnormal ocular adnexa morphology	4849	CNOT3	OMIM:618672
HP:0030669	Abnormal ocular adnexa morphology	6925	TCF4	OMIM:610954
HP:0030669	Abnormal ocular adnexa morphology	6925	TCF4	ORPHA:2896
HP:0030669	Abnormal ocular adnexa morphology	79989	IFT56	OMIM:619534
HP:0030669	Abnormal ocular adnexa morphology	55770	EXOC2	OMIM:619306
HP:0030669	Abnormal ocular adnexa morphology	9488	PIGB	OMIM:618580
HP:0030669	Abnormal ocular adnexa morphology	4952	OCRL	ORPHA:534
HP:0030669	Abnormal ocular adnexa morphology	1741	DLG3	OMIM:300850
HP:0030669	Abnormal ocular adnexa morphology	92255	LMBRD2	OMIM:619694
HP:0030669	Abnormal ocular adnexa morphology	1781	DYNC1I2	OMIM:618492
HP:0030669	Abnormal ocular adnexa morphology	9451	EIF2AK3	OMIM:226980
HP:0030669	Abnormal ocular adnexa morphology	11212	PLPBP	OMIM:617290
HP:0030669	Abnormal ocular adnexa morphology	84265	POLR3GL	OMIM:619234
HP:0030669	Abnormal ocular adnexa morphology	51604	PIGT	ORPHA:369837
HP:0030669	Abnormal ocular adnexa morphology	145173	B3GLCT	OMIM:261540
HP:0030669	Abnormal ocular adnexa morphology	145173	B3GLCT	ORPHA:709
HP:0030669	Abnormal ocular adnexa morphology	90416	CCDC32	OMIM:619123
HP:0030669	Abnormal ocular adnexa morphology	10551	AGR2	OMIM:620233
HP:0030669	Abnormal ocular adnexa morphology	1315	COPB1	OMIM:619255
HP:0030669	Abnormal ocular adnexa morphology	4774	NFIA	OMIM:613735
HP:0030669	Abnormal ocular adnexa morphology	8913	CACNA1G	OMIM:618087
HP:0030669	Abnormal ocular adnexa morphology	1174	AP1S1	OMIM:609313
HP:0030669	Abnormal ocular adnexa morphology	5063	PAK3	OMIM:300558
HP:0030669	Abnormal ocular adnexa morphology	182	JAG1	OMIM:118450
HP:0030669	Abnormal ocular adnexa morphology	3708	ITPR1	OMIM:117360
HP:0030669	Abnormal ocular adnexa morphology	4677	NARS1	OMIM:619092
HP:0030669	Abnormal ocular adnexa morphology	9230	RAB11B	OMIM:617807
HP:0030669	Abnormal ocular adnexa morphology	55081	IFT57	OMIM:617927
HP:0030669	Abnormal ocular adnexa morphology	91949	COG7	OMIM:608779
HP:0030669	Abnormal ocular adnexa morphology	84162	BLTP1	OMIM:617822
HP:0030669	Abnormal ocular adnexa morphology	55784	MCTP2	ORPHA:1596
HP:0030669	Abnormal ocular adnexa morphology	51116	MRPS2	OMIM:617950
HP:0030669	Abnormal ocular adnexa morphology	55906	ZC4H2	OMIM:314580
HP:0030669	Abnormal ocular adnexa morphology	9241	NOG	OMIM:186500
HP:0030669	Abnormal ocular adnexa morphology	29980	DONSON	OMIM:617604
HP:0030669	Abnormal ocular adnexa morphology	1861	TOR1A	OMIM:618947
HP:0030669	Abnormal ocular adnexa morphology	9894	TELO2	ORPHA:488642
HP:0030669	Abnormal ocular adnexa morphology	80232	WDR26	OMIM:617616
HP:0030669	Abnormal ocular adnexa morphology	25914	RTTN	ORPHA:468631
HP:0030669	Abnormal ocular adnexa morphology	8936	WASF1	OMIM:618707
HP:0030669	Abnormal ocular adnexa morphology	63932	STEEP1	OMIM:301013
HP:0030669	Abnormal ocular adnexa morphology	54870	QRICH1	OMIM:617982
HP:0030669	Abnormal ocular adnexa morphology	6911	TBX6	ORPHA:1797
HP:0030669	Abnormal ocular adnexa morphology	4724	NDUFS4	OMIM:252010
HP:0030669	Abnormal ocular adnexa morphology	9276	COPB2	ORPHA:2512
HP:0030669	Abnormal ocular adnexa morphology	11113	CIT	ORPHA:2512
HP:0030669	Abnormal ocular adnexa morphology	9928	KIF14	ORPHA:2512
HP:0030669	Abnormal ocular adnexa morphology	284403	WDR62	ORPHA:2512
HP:0030669	Abnormal ocular adnexa morphology	55262	TRAPPC14	ORPHA:2512
HP:0030669	Abnormal ocular adnexa morphology	163786	SASS6	ORPHA:2512
HP:0030669	Abnormal ocular adnexa morphology	4176	MCM7	ORPHA:2512
HP:0030669	Abnormal ocular adnexa morphology	80254	CEP63	ORPHA:2512
HP:0030669	Abnormal ocular adnexa morphology	29081	METTL5	ORPHA:2512
HP:0030669	Abnormal ocular adnexa morphology	79023	NUP37	ORPHA:2512
HP:0030669	Abnormal ocular adnexa morphology	23310	NCAPD3	ORPHA:2512
HP:0030669	Abnormal ocular adnexa morphology	6301	SARS1	ORPHA:2512
HP:0030669	Abnormal ocular adnexa morphology	55755	CDK5RAP2	ORPHA:2512
HP:0030669	Abnormal ocular adnexa morphology	79648	MCPH1	ORPHA:2512
HP:0030669	Abnormal ocular adnexa morphology	6491	STIL	ORPHA:2512
HP:0030669	Abnormal ocular adnexa morphology	1911	PHC1	ORPHA:2512
HP:0030669	Abnormal ocular adnexa morphology	6884	TAF13	ORPHA:2512
HP:0030669	Abnormal ocular adnexa morphology	9662	CEP135	ORPHA:2512
HP:0030669	Abnormal ocular adnexa morphology	1021	CDK6	ORPHA:2512
HP:0030669	Abnormal ocular adnexa morphology	23404	EXOSC2	OMIM:617763
HP:0030669	Abnormal ocular adnexa morphology	2138	EYA1	ORPHA:52429
HP:0030669	Abnormal ocular adnexa morphology	6495	SIX1	ORPHA:52429
HP:0030669	Abnormal ocular adnexa morphology	330	BIRC3	ORPHA:52417
HP:0030669	Abnormal ocular adnexa morphology	10892	MALT1	ORPHA:52417
HP:0030669	Abnormal ocular adnexa morphology	27086	FOXP1	ORPHA:52417
HP:0030669	Abnormal ocular adnexa morphology	3492	IGH	ORPHA:52417
HP:0030669	Abnormal ocular adnexa morphology	8915	BCL10	ORPHA:52417
HP:0030669	Abnormal ocular adnexa morphology	9791	PTDSS1	ORPHA:2658
HP:0030669	Abnormal ocular adnexa morphology	2263	FGFR2	OMIM:101400
HP:0030669	Abnormal ocular adnexa morphology	7291	TWIST1	OMIM:101400
HP:0030669	Abnormal ocular adnexa morphology	23522	KAT6B	ORPHA:3047
HP:0030669	Abnormal ocular adnexa morphology	23314	SATB2	ORPHA:251028
HP:0030669	Abnormal ocular adnexa morphology	3106	HLA-B	ORPHA:36426
HP:0030669	Abnormal ocular adnexa morphology	10320	IKZF1	ORPHA:36426
HP:0030669	Abnormal ocular adnexa morphology	523	ATP6V1A	OMIM:617403
HP:0030669	Abnormal ocular adnexa morphology	220	ALDH1A3	OMIM:615113
HP:0030669	Abnormal ocular adnexa morphology	529	ATP6V1E1	OMIM:617402
HP:0030669	Abnormal ocular adnexa morphology	5429	POLH	OMIM:278750
HP:0030669	Abnormal ocular adnexa morphology	51053	GMNN	OMIM:616835
HP:0030669	Abnormal ocular adnexa morphology	2074	ERCC6	OMIM:278800
HP:0030669	Abnormal ocular adnexa morphology	11128	POLR3A	OMIM:264090
HP:0030669	Abnormal ocular adnexa morphology	11128	POLR3A	ORPHA:3455
HP:0030669	Abnormal ocular adnexa morphology	10535	RNASEH2A	ORPHA:51
HP:0030669	Abnormal ocular adnexa morphology	84153	RNASEH2C	ORPHA:51
HP:0030669	Abnormal ocular adnexa morphology	25939	SAMHD1	ORPHA:51
HP:0030669	Abnormal ocular adnexa morphology	79621	RNASEH2B	ORPHA:51
HP:0030669	Abnormal ocular adnexa morphology	103	ADAR	ORPHA:51
HP:0030669	Abnormal ocular adnexa morphology	11277	TREX1	ORPHA:51
HP:0030669	Abnormal ocular adnexa morphology	100147744	RNU7-1	ORPHA:51
HP:0030669	Abnormal ocular adnexa morphology	134353	LSM11	ORPHA:51
HP:0030669	Abnormal ocular adnexa morphology	64135	IFIH1	ORPHA:51
HP:0030669	Abnormal ocular adnexa morphology	3636	INPPL1	OMIM:258480
HP:0030669	Abnormal ocular adnexa morphology	24140	FTSJ1	OMIM:309549
HP:0030669	Abnormal ocular adnexa morphology	1523	CUX1	OMIM:618330
HP:0030669	Abnormal ocular adnexa morphology	27445	PCLO	OMIM:608027
HP:0030669	Abnormal ocular adnexa morphology	81607	NECTIN4	OMIM:613573
HP:0030669	Abnormal ocular adnexa morphology	112802	KRT71	OMIM:615896
HP:0030669	Abnormal ocular adnexa morphology	147183	KRT25	OMIM:616760
HP:0030669	Abnormal ocular adnexa morphology	1909	EDNRA	OMIM:616367
HP:0030669	Abnormal ocular adnexa morphology	641	BLM	ORPHA:125
HP:0030669	Abnormal ocular adnexa morphology	59344	ALOXE3	OMIM:242100
HP:0030669	Abnormal ocular adnexa morphology	59344	ALOXE3	OMIM:606545
HP:0030669	Abnormal ocular adnexa morphology	59344	ALOXE3	ORPHA:79394
HP:0030669	Abnormal ocular adnexa morphology	59344	ALOXE3	ORPHA:313
HP:0030669	Abnormal ocular adnexa morphology	242	ALOX12B	OMIM:242100
HP:0030669	Abnormal ocular adnexa morphology	242	ALOX12B	ORPHA:79394
HP:0030669	Abnormal ocular adnexa morphology	242	ALOX12B	ORPHA:313
HP:0030669	Abnormal ocular adnexa morphology	7051	TGM1	OMIM:242300
HP:0030669	Abnormal ocular adnexa morphology	7051	TGM1	ORPHA:100976
HP:0030669	Abnormal ocular adnexa morphology	7051	TGM1	ORPHA:79394
HP:0030669	Abnormal ocular adnexa morphology	7051	TGM1	ORPHA:313
HP:0030669	Abnormal ocular adnexa morphology	26154	ABCA12	OMIM:242500
HP:0030669	Abnormal ocular adnexa morphology	26154	ABCA12	ORPHA:457
HP:0030669	Abnormal ocular adnexa morphology	26154	ABCA12	OMIM:601277
HP:0030669	Abnormal ocular adnexa morphology	26154	ABCA12	ORPHA:79394
HP:0030669	Abnormal ocular adnexa morphology	26154	ABCA12	ORPHA:313
HP:0030669	Abnormal ocular adnexa morphology	348938	NIPAL4	OMIM:612281
HP:0030669	Abnormal ocular adnexa morphology	348938	NIPAL4	ORPHA:79394
HP:0030669	Abnormal ocular adnexa morphology	348938	NIPAL4	ORPHA:313
HP:0030669	Abnormal ocular adnexa morphology	3691	ITGB4	OMIM:226730
HP:0030669	Abnormal ocular adnexa morphology	3691	ITGB4	ORPHA:79403
HP:0030669	Abnormal ocular adnexa morphology	5339	PLEC	OMIM:226730
HP:0030669	Abnormal ocular adnexa morphology	10526	IPO8	OMIM:619472
HP:0030669	Abnormal ocular adnexa morphology	2629	GBA1	ORPHA:85212
HP:0030669	Abnormal ocular adnexa morphology	79092	CARD14	OMIM:173200
HP:0030669	Abnormal ocular adnexa morphology	19	ABCA1	OMIM:205400
HP:0030669	Abnormal ocular adnexa morphology	19	ABCA1	ORPHA:31150
HP:0030669	Abnormal ocular adnexa morphology	51099	ABHD5	OMIM:275630
HP:0030669	Abnormal ocular adnexa morphology	51099	ABHD5	ORPHA:98907
HP:0030669	Abnormal ocular adnexa morphology	3655	ITGA6	ORPHA:79403
HP:0030669	Abnormal ocular adnexa morphology	267010	RNU12	OMIM:603116
HP:0030669	Abnormal ocular adnexa morphology	1723	DHODH	OMIM:263750
HP:0030669	Abnormal ocular adnexa morphology	51163	DBR1	OMIM:620510
HP:0030669	Abnormal ocular adnexa morphology	4038	LRP4	ORPHA:3258
HP:0030669	Abnormal ocular adnexa morphology	324	APC	ORPHA:3258
HP:0030669	Abnormal ocular adnexa morphology	55612	FERMT1	ORPHA:2908
HP:0030669	Abnormal ocular adnexa morphology	2303	FOXC2	ORPHA:33001
HP:0030669	Abnormal ocular adnexa morphology	2303	FOXC2	OMIM:153400
HP:0030669	Abnormal ocular adnexa morphology	3858	KRT10	OMIM:609165
HP:0030669	Abnormal ocular adnexa morphology	7389	UROD	ORPHA:95159
HP:0030669	Abnormal ocular adnexa morphology	204219	CERS3	OMIM:615023
HP:0030669	Abnormal ocular adnexa morphology	204219	CERS3	ORPHA:79394
HP:0030669	Abnormal ocular adnexa morphology	54101	RIPK4	OMIM:263650
HP:0030669	Abnormal ocular adnexa morphology	6820	SULT2B1	ORPHA:79394
HP:0030669	Abnormal ocular adnexa morphology	6820	SULT2B1	ORPHA:313
HP:0030669	Abnormal ocular adnexa morphology	285848	PNPLA1	ORPHA:79394
HP:0030669	Abnormal ocular adnexa morphology	121214	SDR9C7	ORPHA:79394
HP:0030669	Abnormal ocular adnexa morphology	121214	SDR9C7	ORPHA:313
HP:0030669	Abnormal ocular adnexa morphology	1906	EDN1	OMIM:615706
HP:0030669	Abnormal ocular adnexa morphology	7390	UROS	ORPHA:79277
HP:0030669	Abnormal ocular adnexa morphology	151516	ASPRV1	ORPHA:313
HP:0030669	Abnormal ocular adnexa morphology	126410	CYP4F22	ORPHA:313
HP:0030669	Abnormal ocular adnexa morphology	643418	LIPN	ORPHA:313
HP:0030669	Abnormal ocular adnexa morphology	23241	PACS2	OMIM:618067
HP:0030669	Abnormal ocular adnexa morphology	7109	TRAPPC10	OMIM:620027
HP:0030669	Abnormal ocular adnexa morphology	10274	STAG1	ORPHA:502434
HP:0030669	Abnormal ocular adnexa morphology	170302	ARX	OMIM:300004
HP:0030669	Abnormal ocular adnexa morphology	10300	KATNB1	OMIM:616212
HP:0030669	Abnormal ocular adnexa morphology	7552	ZNF711	OMIM:300803
HP:0030669	Abnormal ocular adnexa morphology	9442	MED27	OMIM:619286
HP:0030669	Abnormal ocular adnexa morphology	55690	PACS1	OMIM:615009
HP:0030669	Abnormal ocular adnexa morphology	55690	PACS1	ORPHA:329224
HP:0030669	Abnormal ocular adnexa morphology	318	NUDT2	OMIM:619844
HP:0030669	Abnormal ocular adnexa morphology	2314	FLII	ORPHA:819
HP:0030669	Abnormal ocular adnexa morphology	23096	IQSEC2	ORPHA:819
HP:0030669	Abnormal ocular adnexa morphology	10743	RAI1	ORPHA:819
HP:0030669	Abnormal ocular adnexa morphology	10743	RAI1	OMIM:182290
HP:0030669	Abnormal ocular adnexa morphology	5818	NECTIN1	ORPHA:3253
HP:0030669	Abnormal ocular adnexa morphology	10978	CLP1	OMIM:615803
HP:0030669	Abnormal ocular adnexa morphology	26153	KIF26A	OMIM:620156
HP:0030669	Abnormal ocular adnexa morphology	55870	ASH1L	OMIM:617796
HP:0030669	Abnormal ocular adnexa morphology	3899	AFF3	OMIM:619297
HP:0030669	Abnormal ocular adnexa morphology	83871	RAB34	OMIM:620718
HP:0030669	Abnormal ocular adnexa morphology	9377	COX5A	OMIM:619064
HP:0030669	Abnormal ocular adnexa morphology	84504	NKX6-2	OMIM:617560
HP:0030669	Abnormal ocular adnexa morphology	283987	HID1	OMIM:619983
HP:0030669	Abnormal ocular adnexa morphology	79813	EHMT1	OMIM:610253
HP:0030669	Abnormal ocular adnexa morphology	79813	EHMT1	ORPHA:96147
HP:0030669	Abnormal ocular adnexa morphology	55621	TRMT1	OMIM:618302
HP:0030669	Abnormal ocular adnexa morphology	57282	SLC4A10	OMIM:620746
HP:0030669	Abnormal ocular adnexa morphology	9772	TMEM94	OMIM:618316
HP:0030669	Abnormal ocular adnexa morphology	2556	GABRA3	OMIM:301091
HP:0030669	Abnormal ocular adnexa morphology	6611	SMS	OMIM:309583
HP:0030669	Abnormal ocular adnexa morphology	6611	SMS	ORPHA:3063
HP:0030669	Abnormal ocular adnexa morphology	23219	FBXO28	OMIM:619777
HP:0030669	Abnormal ocular adnexa morphology	22856	CHSY1	OMIM:605282
HP:0030669	Abnormal ocular adnexa morphology	6509	SLC1A4	ORPHA:447997
HP:0030669	Abnormal ocular adnexa morphology	7546	ZIC2	OMIM:609637
HP:0030669	Abnormal ocular adnexa morphology	7319	UBE2A	ORPHA:163956
HP:0030669	Abnormal ocular adnexa morphology	7319	UBE2A	OMIM:300860
HP:0030669	Abnormal ocular adnexa morphology	81603	TRIM8	OMIM:619428
HP:0030669	Abnormal ocular adnexa morphology	835	CASP2	OMIM:620653
HP:0030669	Abnormal ocular adnexa morphology	140679	SLC32A1	OMIM:620774
HP:0030669	Abnormal ocular adnexa morphology	6888	TALDO1	OMIM:606003
HP:0030669	Abnormal ocular adnexa morphology	9949	AMMECR1	OMIM:300990
HP:0030669	Abnormal ocular adnexa morphology	6448	SGSH	OMIM:252900
HP:0030669	Abnormal ocular adnexa morphology	8473	OGT	OMIM:300997
HP:0030669	Abnormal ocular adnexa morphology	23028	KDM1A	OMIM:616728
HP:0030669	Abnormal ocular adnexa morphology	23028	KDM1A	ORPHA:477993
HP:0030669	Abnormal ocular adnexa morphology	55209	SETD5	OMIM:615761
HP:0030669	Abnormal ocular adnexa morphology	23030	KDM4B	OMIM:619320
HP:0030669	Abnormal ocular adnexa morphology	3313	HSPA9	OMIM:616854
HP:0030669	Abnormal ocular adnexa morphology	7453	WARS1	OMIM:620317
HP:0030669	Abnormal ocular adnexa morphology	998	CDC42	OMIM:616737
HP:0030669	Abnormal ocular adnexa morphology	998	CDC42	ORPHA:487796
HP:0030669	Abnormal ocular adnexa morphology	4081	MAB21L1	OMIM:618479
HP:0030669	Abnormal ocular adnexa morphology	4081	MAB21L1	ORPHA:495875
HP:0030669	Abnormal ocular adnexa morphology	3097	HIVEP2	OMIM:616977
HP:0030669	Abnormal ocular adnexa morphology	9969	MED13	OMIM:618009
HP:0030669	Abnormal ocular adnexa morphology	2248	FGF3	ORPHA:90024
HP:0030669	Abnormal ocular adnexa morphology	6792	CDKL5	ORPHA:505652
HP:0030669	Abnormal ocular adnexa morphology	80185	TTI2	OMIM:615541
HP:0030669	Abnormal ocular adnexa morphology	80185	TTI2	ORPHA:391307
HP:0030669	Abnormal ocular adnexa morphology	26040	SETBP1	OMIM:616078
HP:0030669	Abnormal ocular adnexa morphology	10771	ZMYND11	OMIM:616083
HP:0030669	Abnormal ocular adnexa morphology	5702	PSMC3	OMIM:619354
HP:0030669	Abnormal ocular adnexa morphology	118924	FRA10AC1	OMIM:620113
HP:0030669	Abnormal ocular adnexa morphology	3815	KIT	ORPHA:2884
HP:0030669	Abnormal ocular adnexa morphology	6904	TBCD	OMIM:617193
HP:0030669	Abnormal ocular adnexa morphology	5879	RAC1	OMIM:617751
HP:0030669	Abnormal ocular adnexa morphology	23133	PHF8	ORPHA:85287
HP:0030669	Abnormal ocular adnexa morphology	23133	PHF8	OMIM:300263
HP:0030669	Abnormal ocular adnexa morphology	138050	HGSNAT	OMIM:252930
HP:0030669	Abnormal ocular adnexa morphology	3778	KCNMA1	OMIM:618729
HP:0030669	Abnormal ocular adnexa morphology	64802	NMNAT1	OMIM:619260
HP:0030669	Abnormal ocular adnexa morphology	11141	IL1RAPL1	OMIM:300143
HP:0030669	Abnormal ocular adnexa morphology	284361	EMC10	OMIM:619264
HP:0030669	Abnormal ocular adnexa morphology	4669	NAGLU	OMIM:252920
HP:0030669	Abnormal ocular adnexa morphology	283450	HECTD4	OMIM:620250
HP:0030669	Abnormal ocular adnexa morphology	3141	HLCS	ORPHA:79242
HP:0030669	Abnormal ocular adnexa morphology	326	AIRE	OMIM:240300
HP:0030669	Abnormal ocular adnexa morphology	6335	SCN9A	OMIM:133020
HP:0030669	Abnormal ocular adnexa morphology	5080	PAX6	ORPHA:250923
HP:0030669	Abnormal ocular adnexa morphology	54765	TRIM44	ORPHA:250923
HP:0030669	Abnormal ocular adnexa morphology	1308	COL17A1	ORPHA:293381
HP:0030669	Abnormal ocular adnexa morphology	29926	GMPPA	ORPHA:869
HP:0030669	Abnormal ocular adnexa morphology	60684	TRAPPC11	ORPHA:869
HP:0030669	Abnormal ocular adnexa morphology	8086	AAAS	ORPHA:869
HP:0030669	Abnormal ocular adnexa morphology	22861	NLRP1	OMIM:617388
HP:0030669	Abnormal ocular adnexa morphology	3930	LBR	ORPHA:779
HP:0030669	Abnormal ocular adnexa morphology	5965	RECQL	OMIM:620370
HP:0030669	Abnormal ocular adnexa morphology	4547	MTTP	ORPHA:14
HP:0030669	Abnormal ocular adnexa morphology	64127	NOD2	OMIM:617321
HP:0030669	Abnormal ocular adnexa morphology	149233	IL23R	ORPHA:117
HP:0030669	Abnormal ocular adnexa morphology	6775	STAT4	ORPHA:117
HP:0030669	Abnormal ocular adnexa morphology	3586	IL10	ORPHA:117
HP:0030669	Abnormal ocular adnexa morphology	4210	MEFV	ORPHA:117
HP:0030669	Abnormal ocular adnexa morphology	1230	CCR1	ORPHA:117
HP:0030669	Abnormal ocular adnexa morphology	101928376	IL12A-AS1	ORPHA:117
HP:0030669	Abnormal ocular adnexa morphology	7099	TLR4	ORPHA:117
HP:0030669	Abnormal ocular adnexa morphology	3459	IFNGR1	ORPHA:117
HP:0030669	Abnormal ocular adnexa morphology	720	C4A	ORPHA:117
HP:0030669	Abnormal ocular adnexa morphology	337867	UBAC2	ORPHA:117
HP:0030669	Abnormal ocular adnexa morphology	51752	ERAP1	ORPHA:117
HP:0030669	Abnormal ocular adnexa morphology	8302	KLRC4	ORPHA:117
HP:0030669	Abnormal ocular adnexa morphology	3594	IL12RB1	ORPHA:186
HP:0030669	Abnormal ocular adnexa morphology	23534	TNPO3	ORPHA:186
HP:0030669	Abnormal ocular adnexa morphology	3592	IL12A	ORPHA:186
HP:0030669	Abnormal ocular adnexa morphology	6689	SPIB	ORPHA:186
HP:0030669	Abnormal ocular adnexa morphology	5450	POU2AF1	ORPHA:186
HP:0030669	Abnormal ocular adnexa morphology	9966	TNFSF15	ORPHA:186
HP:0030669	Abnormal ocular adnexa morphology	79258	MMEL1	ORPHA:186
HP:0030669	Abnormal ocular adnexa morphology	3663	IRF5	ORPHA:186
HP:0030669	Abnormal ocular adnexa morphology	255738	PCSK9	OMIM:603776
HP:0030669	Abnormal ocular adnexa morphology	5159	PDGFRB	OMIM:616592
HP:0030669	Abnormal ocular adnexa morphology	6774	STAT3	ORPHA:2314
HP:0030669	Abnormal ocular adnexa morphology	338	APOB	OMIM:144010
HP:0030669	Abnormal ocular adnexa morphology	336	APOA2	OMIM:143890
HP:0030669	Abnormal ocular adnexa morphology	2053	EPHX2	OMIM:143890
HP:0030669	Abnormal ocular adnexa morphology	10842	PPP1R17	OMIM:143890
HP:0030669	Abnormal ocular adnexa morphology	3949	LDLR	OMIM:143890
HP:0030669	Abnormal ocular adnexa morphology	2690	GHR	OMIM:143890
HP:0030669	Abnormal ocular adnexa morphology	2538	G6PC1	OMIM:232200
HP:0030669	Abnormal ocular adnexa morphology	4023	LPL	OMIM:144250
HP:0030669	Abnormal ocular adnexa morphology	7274	TTPA	OMIM:277460
HP:0030669	Abnormal ocular adnexa morphology	2542	SLC37A4	OMIM:232220
HP:0030669	Abnormal ocular adnexa morphology	2542	SLC37A4	OMIM:232240
HP:0030669	Abnormal ocular adnexa morphology	2542	SLC37A4	ORPHA:79259
HP:0030669	Abnormal ocular adnexa morphology	64241	ABCG8	OMIM:210250
HP:0030669	Abnormal ocular adnexa morphology	23426	GRIP1	OMIM:617667
HP:0030669	Abnormal ocular adnexa morphology	23426	GRIP1	ORPHA:2052
HP:0030669	Abnormal ocular adnexa morphology	80144	FRAS1	ORPHA:2052
HP:0030669	Abnormal ocular adnexa morphology	80144	FRAS1	OMIM:219000
HP:0030669	Abnormal ocular adnexa morphology	207	AKT1	OMIM:176920
HP:0030669	Abnormal ocular adnexa morphology	6299	SALL1	ORPHA:857
HP:0030669	Abnormal ocular adnexa morphology	51339	DACT1	ORPHA:857
HP:0030669	Abnormal ocular adnexa morphology	10992	SF3B2	OMIM:164210
HP:0030669	Abnormal ocular adnexa morphology	347733	TUBB2B	OMIM:610031
HP:0030669	Abnormal ocular adnexa morphology	347733	TUBB2B	ORPHA:45358
HP:0030669	Abnormal ocular adnexa morphology	401	PHOX2A	OMIM:602078
HP:0030669	Abnormal ocular adnexa morphology	401	PHOX2A	ORPHA:45358
HP:0030669	Abnormal ocular adnexa morphology	55605	KIF21A	ORPHA:45358
HP:0030669	Abnormal ocular adnexa morphology	55605	KIF21A	OMIM:135700
HP:0030669	Abnormal ocular adnexa morphology	7846	TUBA1A	ORPHA:45358
HP:0030669	Abnormal ocular adnexa morphology	84570	COL25A1	ORPHA:45358
HP:0030669	Abnormal ocular adnexa morphology	5317	PKP1	OMIM:604536
HP:0030669	Abnormal ocular adnexa morphology	4953	ODC1	OMIM:619075
HP:0030669	Abnormal ocular adnexa morphology	4953	ODC1	ORPHA:544488
HP:0030669	Abnormal ocular adnexa morphology	1832	DSP	ORPHA:158687
HP:0030669	Abnormal ocular adnexa morphology	3728	JUP	ORPHA:158687
HP:0030669	Abnormal ocular adnexa morphology	128178	EDARADD	OMIM:614941
HP:0030669	Abnormal ocular adnexa morphology	10283	CWC27	OMIM:250410
HP:0030669	Abnormal ocular adnexa morphology	10283	CWC27	ORPHA:166035
HP:0030669	Abnormal ocular adnexa morphology	3891	KRT85	OMIM:602032
HP:0030669	Abnormal ocular adnexa morphology	84946	LTV1	OMIM:620199
HP:0030669	Abnormal ocular adnexa morphology	5297	PI4KA	ORPHA:436252
HP:0030669	Abnormal ocular adnexa morphology	57217	TTC7A	ORPHA:436252
HP:0030669	Abnormal ocular adnexa morphology	3229	HOXC13	OMIM:614931
HP:0030669	Abnormal ocular adnexa morphology	1001	CDH3	ORPHA:1897
HP:0030669	Abnormal ocular adnexa morphology	4157	MC1R	ORPHA:79432
HP:0030669	Abnormal ocular adnexa morphology	4948	OCA2	ORPHA:79432
HP:0030669	Abnormal ocular adnexa morphology	7306	TYRP1	ORPHA:79433
HP:0030669	Abnormal ocular adnexa morphology	4644	MYO5A	OMIM:214450
HP:0030669	Abnormal ocular adnexa morphology	79083	MLPH	OMIM:609227
HP:0030669	Abnormal ocular adnexa morphology	10128	LRPPRC	OMIM:220111
HP:0030669	Abnormal ocular adnexa morphology	8294	H4C9	OMIM:619951
HP:0030669	Abnormal ocular adnexa morphology	50651	SLC45A1	OMIM:617532
HP:0030669	Abnormal ocular adnexa morphology	23334	SZT2	OMIM:615476
HP:0030669	Abnormal ocular adnexa morphology	613	BCR	ORPHA:261330
HP:0030669	Abnormal ocular adnexa morphology	1399	CRKL	ORPHA:261330
HP:0030669	Abnormal ocular adnexa morphology	23322	RPGRIP1L	ORPHA:220497
HP:0030669	Abnormal ocular adnexa morphology	23322	RPGRIP1L	ORPHA:1454
HP:0030669	Abnormal ocular adnexa morphology	4867	NPHP1	ORPHA:220497
HP:0030669	Abnormal ocular adnexa morphology	153241	CEP120	ORPHA:220493
HP:0030669	Abnormal ocular adnexa morphology	153241	CEP120	ORPHA:475
HP:0030669	Abnormal ocular adnexa morphology	54903	MKS1	ORPHA:220493
HP:0030669	Abnormal ocular adnexa morphology	54903	MKS1	ORPHA:475
HP:0030669	Abnormal ocular adnexa morphology	54903	MKS1	OMIM:617121
HP:0030669	Abnormal ocular adnexa morphology	95681	CEP41	ORPHA:220493
HP:0030669	Abnormal ocular adnexa morphology	95681	CEP41	ORPHA:475
HP:0030669	Abnormal ocular adnexa morphology	80055	PGAP1	OMIM:615802
HP:0030669	Abnormal ocular adnexa morphology	29072	SETD2	OMIM:620157
HP:0030669	Abnormal ocular adnexa morphology	29072	SETD2	OMIM:620155
HP:0030669	Abnormal ocular adnexa morphology	55780	ERMARD	ORPHA:75857
HP:0030669	Abnormal ocular adnexa morphology	1185	CLCN6	OMIM:619173
HP:0030669	Abnormal ocular adnexa morphology	818	CAMK2G	OMIM:618522
HP:0030669	Abnormal ocular adnexa morphology	23184	MESD	OMIM:618644
HP:0030669	Abnormal ocular adnexa morphology	23325	WASHC4	OMIM:615817
HP:0030669	Abnormal ocular adnexa morphology	4212	MEIS2	OMIM:600987
HP:0030669	Abnormal ocular adnexa morphology	79600	TCTN1	ORPHA:475
HP:0030669	Abnormal ocular adnexa morphology	91147	TMEM67	ORPHA:475
HP:0030669	Abnormal ocular adnexa morphology	91147	TMEM67	ORPHA:1454
HP:0030669	Abnormal ocular adnexa morphology	200894	ARL13B	ORPHA:475
HP:0030669	Abnormal ocular adnexa morphology	9731	CEP104	ORPHA:475
HP:0030669	Abnormal ocular adnexa morphology	219844	HYLS1	ORPHA:475
HP:0030669	Abnormal ocular adnexa morphology	23247	KATNIP	ORPHA:475
HP:0030669	Abnormal ocular adnexa morphology	219854	TMEM218	ORPHA:475
HP:0030669	Abnormal ocular adnexa morphology	79867	TCTN2	ORPHA:475
HP:0030669	Abnormal ocular adnexa morphology	10464	PIBF1	ORPHA:475
HP:0030669	Abnormal ocular adnexa morphology	80210	ARMC9	ORPHA:475
HP:0030669	Abnormal ocular adnexa morphology	23116	TOGARAM1	ORPHA:475
HP:0030669	Abnormal ocular adnexa morphology	25776	CBY1	ORPHA:475
HP:0030669	Abnormal ocular adnexa morphology	27077	B9D1	ORPHA:475
HP:0030669	Abnormal ocular adnexa morphology	80173	IFT74	ORPHA:475
HP:0030669	Abnormal ocular adnexa morphology	5792	PTPRF	OMIM:616001
HP:0030669	Abnormal ocular adnexa morphology	51633	OTUD6B	OMIM:617452
HP:0030669	Abnormal ocular adnexa morphology	51633	OTUD6B	ORPHA:505237
HP:0030669	Abnormal ocular adnexa morphology	8363	H4C11	OMIM:619759
HP:0030669	Abnormal ocular adnexa morphology	3187	HNRNPH1	OMIM:620083
HP:0030669	Abnormal ocular adnexa morphology	4123	MAN2C1	OMIM:619775
HP:0030669	Abnormal ocular adnexa morphology	23483	TGDS	ORPHA:1388
HP:0030669	Abnormal ocular adnexa morphology	85459	CEP295	OMIM:620767
HP:0030669	Abnormal ocular adnexa morphology	84188	FAR1	OMIM:616154
HP:0030669	Abnormal ocular adnexa morphology	84188	FAR1	ORPHA:438178
HP:0030669	Abnormal ocular adnexa morphology	5910	RAP1GDS1	OMIM:620655
HP:0030669	Abnormal ocular adnexa morphology	9900	SV2A	OMIM:620772
HP:0030669	Abnormal ocular adnexa morphology	9759	HDAC4	ORPHA:1001
HP:0030669	Abnormal ocular adnexa morphology	9759	HDAC4	OMIM:600430
HP:0030669	Abnormal ocular adnexa morphology	92335	STRADA	ORPHA:500533
HP:0030669	Abnormal ocular adnexa morphology	6091	ROBO1	OMIM:620305
HP:0030669	Abnormal ocular adnexa morphology	56975	FAM20C	OMIM:259775
HP:0030669	Abnormal ocular adnexa morphology	166378	AFG2A	ORPHA:457351
HP:0030669	Abnormal ocular adnexa morphology	26999	CYFIP2	OMIM:618008
HP:0030669	Abnormal ocular adnexa morphology	51524	TMEM138	ORPHA:2318
HP:0030669	Abnormal ocular adnexa morphology	23090	ZNF423	ORPHA:2318
HP:0030669	Abnormal ocular adnexa morphology	80184	CEP290	ORPHA:2318
HP:0030669	Abnormal ocular adnexa morphology	57545	CC2D2A	ORPHA:2318
HP:0030669	Abnormal ocular adnexa morphology	57545	CC2D2A	ORPHA:1454
HP:0030669	Abnormal ocular adnexa morphology	6045	RNF2	OMIM:619460
HP:0030669	Abnormal ocular adnexa morphology	51305	KCNK9	ORPHA:166108
HP:0030669	Abnormal ocular adnexa morphology	51305	KCNK9	OMIM:612292
HP:0030669	Abnormal ocular adnexa morphology	348180	CTU2	OMIM:618142
HP:0030669	Abnormal ocular adnexa morphology	94005	PIGS	OMIM:618143
HP:0030669	Abnormal ocular adnexa morphology	4762	NEUROG1	OMIM:620469
HP:0030669	Abnormal ocular adnexa morphology	2571	GAD1	OMIM:619124
HP:0030669	Abnormal ocular adnexa morphology	91875	TTC5	OMIM:619244
HP:0030669	Abnormal ocular adnexa morphology	113246	C12orf57	OMIM:218340
HP:0030669	Abnormal ocular adnexa morphology	57020	VPS35L	OMIM:619135
HP:0030669	Abnormal ocular adnexa morphology	9373	PLAA	OMIM:617527
HP:0030669	Abnormal ocular adnexa morphology	126695	KDF1	OMIM:617337
HP:0030669	Abnormal ocular adnexa morphology	5361	PLXNA1	OMIM:619955
HP:0030669	Abnormal ocular adnexa morphology	10026	PIGK	OMIM:618879
HP:0030669	Abnormal ocular adnexa morphology	6926	TBX3	OMIM:181450
HP:0030669	Abnormal ocular adnexa morphology	341208	HEPHL1	OMIM:261990
HP:0030669	Abnormal ocular adnexa morphology	2892	GRIA3	ORPHA:364028
HP:0030669	Abnormal ocular adnexa morphology	200424	TET3	OMIM:618798
HP:0030669	Abnormal ocular adnexa morphology	977	CD151	OMIM:609057
HP:0030669	Abnormal ocular adnexa morphology	2591	GALNT3	OMIM:211900
HP:0030669	Abnormal ocular adnexa morphology	6638	SNRPN	ORPHA:177904
HP:0030669	Abnormal ocular adnexa morphology	6638	SNRPN	ORPHA:177901
HP:0030669	Abnormal ocular adnexa morphology	6638	SNRPN	ORPHA:177907
HP:0030669	Abnormal ocular adnexa morphology	6638	SNRPN	ORPHA:98754
HP:0030669	Abnormal ocular adnexa morphology	4692	NDN	ORPHA:177904
HP:0030669	Abnormal ocular adnexa morphology	4692	NDN	ORPHA:177901
HP:0030669	Abnormal ocular adnexa morphology	4692	NDN	ORPHA:98754
HP:0030669	Abnormal ocular adnexa morphology	56992	KIF15	ORPHA:261323
HP:0030669	Abnormal ocular adnexa morphology	79903	NAA60	OMIM:620786
HP:0030669	Abnormal ocular adnexa morphology	100033413	SNORD116-1	OMIM:176270
HP:0030669	Abnormal ocular adnexa morphology	8924	HERC2	OMIM:176270
HP:0030669	Abnormal ocular adnexa morphology	23742	NPAP1	OMIM:176270
HP:0030669	Abnormal ocular adnexa morphology	338433	SNORD115-1	OMIM:176270
HP:0030669	Abnormal ocular adnexa morphology	7681	MKRN3	OMIM:176270
HP:0030669	Abnormal ocular adnexa morphology	145624	PWAR1	OMIM:176270
HP:0030669	Abnormal ocular adnexa morphology	3653	IPW	OMIM:176270
HP:0030669	Abnormal ocular adnexa morphology	791114	PWRN1	OMIM:176270
HP:0030669	Abnormal ocular adnexa morphology	23040	MYT1L	ORPHA:647799
HP:0030669	Abnormal ocular adnexa morphology	84520	GON7	OMIM:619603
HP:0030669	Abnormal ocular adnexa morphology	26057	ANKRD17	OMIM:619504
HP:0030669	Abnormal ocular adnexa morphology	1759	DNM1	OMIM:620352
HP:0030669	Abnormal ocular adnexa morphology	387	RHOA	OMIM:618727
HP:0030669	Abnormal ocular adnexa morphology	5428	POLG	ORPHA:298
HP:0030669	Abnormal ocular adnexa morphology	1890	TYMP	ORPHA:298
HP:0030669	Abnormal ocular adnexa morphology	3980	LIG3	ORPHA:298
HP:0030669	Abnormal ocular adnexa morphology	50484	RRM2B	ORPHA:298
HP:0030669	Abnormal ocular adnexa morphology	9782	MATR3	ORPHA:600
HP:0030669	Abnormal ocular adnexa morphology	51621	KLF13	OMIM:612001
HP:0030669	Abnormal ocular adnexa morphology	80324	PUS1	OMIM:600462
HP:0030669	Abnormal ocular adnexa morphology	80324	PUS1	ORPHA:2598
HP:0030669	Abnormal ocular adnexa morphology	51067	YARS2	ORPHA:2598
HP:0030669	Abnormal ocular adnexa morphology	3664	IRF6	OMIM:119500
HP:0030669	Abnormal ocular adnexa morphology	3664	IRF6	ORPHA:1300
HP:0030669	Abnormal ocular adnexa morphology	22858	CILK1	OMIM:612651
HP:0030669	Abnormal ocular adnexa morphology	341640	FREM2	OMIM:123570
HP:0030669	Abnormal ocular adnexa morphology	30062	RAX	OMIM:611038
HP:0030669	Abnormal ocular adnexa morphology	1147	CHUK	OMIM:619339
HP:0030669	Abnormal ocular adnexa morphology	54880	BCOR	ORPHA:568
HP:0030669	Abnormal ocular adnexa morphology	4069	LYZ	OMIM:620658
HP:0030669	Abnormal ocular adnexa morphology	335	APOA1	OMIM:620657
HP:0030669	Abnormal ocular adnexa morphology	4070	TACSTD2	ORPHA:98957
HP:0030669	Abnormal ocular adnexa morphology	50940	PDE11A	ORPHA:1359
HP:0030669	Abnormal ocular adnexa morphology	92482	BBIP1	ORPHA:110
HP:0030669	Abnormal ocular adnexa morphology	11020	IFT27	ORPHA:110
HP:0030669	Abnormal ocular adnexa morphology	49855	SCAPER	ORPHA:110
HP:0030669	Abnormal ocular adnexa morphology	51057	WDPCP	ORPHA:110
HP:0030669	Abnormal ocular adnexa morphology	132320	SCLT1	ORPHA:110
HP:0030669	Abnormal ocular adnexa morphology	27241	BBS9	ORPHA:110
HP:0030669	Abnormal ocular adnexa morphology	84984	CEP19	ORPHA:110
HP:0030669	Abnormal ocular adnexa morphology	22954	TRIM32	ORPHA:110
HP:0030669	Abnormal ocular adnexa morphology	79738	BBS10	ORPHA:110
HP:0030669	Abnormal ocular adnexa morphology	123016	TTC8	ORPHA:110
HP:0030669	Abnormal ocular adnexa morphology	26160	IFT172	ORPHA:110
HP:0030669	Abnormal ocular adnexa morphology	583	BBS2	ORPHA:110
HP:0030669	Abnormal ocular adnexa morphology	585	BBS4	ORPHA:110
HP:0030669	Abnormal ocular adnexa morphology	8195	MKKS	ORPHA:110
HP:0030669	Abnormal ocular adnexa morphology	54585	LZTFL1	ORPHA:110
HP:0030669	Abnormal ocular adnexa morphology	55212	BBS7	ORPHA:110
HP:0030669	Abnormal ocular adnexa morphology	166379	BBS12	ORPHA:110
HP:0030669	Abnormal ocular adnexa morphology	10806	SDCCAG8	ORPHA:110
HP:0030669	Abnormal ocular adnexa morphology	157657	CFAP418	ORPHA:110
HP:0030669	Abnormal ocular adnexa morphology	129880	BBS5	ORPHA:110
HP:0030669	Abnormal ocular adnexa morphology	5587	PRKD1	OMIM:617364
HP:0030669	Abnormal ocular adnexa morphology	25	ABL1	OMIM:617602
HP:0030669	Abnormal ocular adnexa morphology	54840	APTX	ORPHA:1168
HP:0030669	Abnormal ocular adnexa morphology	2934	GSN	ORPHA:85448
HP:0030669	Abnormal ocular adnexa morphology	4052	LTBP1	ORPHA:90349
HP:0030669	Abnormal ocular adnexa morphology	30008	EFEMP2	ORPHA:90349
HP:0030669	Abnormal ocular adnexa morphology	10516	FBLN5	ORPHA:90349
HP:0030669	Abnormal ocular adnexa morphology	84100	ARL6	OMIM:209900
HP:0030669	Abnormal ocular adnexa morphology	79140	CCDC28B	OMIM:209900
HP:0030669	Abnormal ocular adnexa morphology	582	BBS1	OMIM:209900
HP:0030669	Abnormal ocular adnexa morphology	5293	PIK3CD	ORPHA:221139
HP:0030669	Abnormal ocular adnexa morphology	90417	KNSTRN	ORPHA:221139
HP:0030669	Abnormal ocular adnexa morphology	8313	AXIN2	OMIM:608615
HP:0030669	Abnormal ocular adnexa morphology	4733	DRG1	OMIM:620641
HP:0030669	Abnormal ocular adnexa morphology	29968	PSAT1	OMIM:616038
HP:0030669	Abnormal ocular adnexa morphology	26227	PHGDH	OMIM:256520
HP:0030669	Abnormal ocular adnexa morphology	10524	KAT5	OMIM:619103
HP:0030669	Abnormal ocular adnexa morphology	10588	MTHFS	OMIM:618367
HP:0030669	Abnormal ocular adnexa morphology	6874	TAF4	OMIM:620450
HP:0030669	Abnormal ocular adnexa morphology	54892	NCAPG2	OMIM:618460
HP:0030669	Abnormal ocular adnexa morphology	23097	CDK19	OMIM:618916
HP:0030669	Abnormal ocular adnexa morphology	4094	MAF	OMIM:601088
HP:0030669	Abnormal ocular adnexa morphology	5422	POLA1	OMIM:301220
HP:0030669	Abnormal ocular adnexa morphology	8925	HERC1	ORPHA:457359
HP:0030669	Abnormal ocular adnexa morphology	29920	PYCR2	ORPHA:481152
HP:0030669	Abnormal ocular adnexa morphology	25871	NEPRO	OMIM:618853
HP:0030669	Abnormal ocular adnexa morphology	100151683	RNU4ATAC	ORPHA:353298
HP:0030669	Abnormal ocular adnexa morphology	100151683	RNU4ATAC	OMIM:616651
HP:0030669	Abnormal ocular adnexa morphology	4001	LMNB1	OMIM:619179
HP:0030669	Abnormal ocular adnexa morphology	84172	POLR1B	ORPHA:861
HP:0030669	Abnormal ocular adnexa morphology	9533	POLR1C	ORPHA:861
HP:0030669	Abnormal ocular adnexa morphology	51082	POLR1D	ORPHA:861
HP:0030669	Abnormal ocular adnexa morphology	6949	TCOF1	ORPHA:861
HP:0030669	Abnormal ocular adnexa morphology	147912	SIX5	ORPHA:107
HP:0030669	Abnormal ocular adnexa morphology	3162	HMOX1	OMIM:614034
HP:0030669	Abnormal ocular adnexa morphology	116931	MED12L	OMIM:618872
HP:0030669	Abnormal ocular adnexa morphology	3703	STT3A	OMIM:619714
HP:0030669	Abnormal ocular adnexa morphology	81788	NUAK2	OMIM:619452
HP:0030669	Abnormal ocular adnexa morphology	3977	LIFR	OMIM:601559
HP:0030669	Abnormal ocular adnexa morphology	84314	TMEM107	OMIM:617563
HP:0030669	Abnormal ocular adnexa morphology	8218	CLTCL1	ORPHA:453510
HP:0030669	Abnormal ocular adnexa morphology	3516	RBPJ	OMIM:614814
HP:0030669	Abnormal ocular adnexa morphology	3762	KCNJ5	ORPHA:37553
HP:0030669	Abnormal ocular adnexa morphology	444	ASPH	OMIM:601552
HP:0030669	Abnormal ocular adnexa morphology	5518	PPP2R1A	ORPHA:457284
HP:0030669	Abnormal ocular adnexa morphology	6720	SREBF1	OMIM:619016
HP:0030669	Abnormal ocular adnexa morphology	57479	PRR12	OMIM:619539
HP:0030669	Abnormal ocular adnexa morphology	3190	HNRNPK	OMIM:616580
HP:0030669	Abnormal ocular adnexa morphology	55768	NGLY1	ORPHA:404454
HP:0030669	Abnormal ocular adnexa morphology	9427	ECEL1	OMIM:615065
HP:0030669	Abnormal ocular adnexa morphology	6452	SH3BP2	OMIM:118400
HP:0030669	Abnormal ocular adnexa morphology	55553	SOX6	OMIM:618971
HP:0030669	Abnormal ocular adnexa morphology	9578	CDC42BPB	OMIM:619841
HP:0030669	Abnormal ocular adnexa morphology	1806	DPYD	ORPHA:1675
HP:0030669	Abnormal ocular adnexa morphology	4137	MAPT	ORPHA:240071
HP:0030669	Abnormal ocular adnexa morphology	6472	SHMT2	OMIM:619121
HP:0030669	Abnormal ocular adnexa morphology	950	SCARB2	ORPHA:77259
HP:0030669	Abnormal ocular adnexa morphology	2271	FH	OMIM:606812
HP:0030669	Abnormal ocular adnexa morphology	197131	UBR1	OMIM:243800
HP:0030669	Abnormal ocular adnexa morphology	28234	SLCO1B3	ORPHA:3111
HP:0030669	Abnormal ocular adnexa morphology	10599	SLCO1B1	ORPHA:3111
HP:0030669	Abnormal ocular adnexa morphology	5314	PKHD1	ORPHA:53035
HP:0030669	Abnormal ocular adnexa morphology	5277	PIGA	ORPHA:447
HP:0030669	Abnormal ocular adnexa morphology	80326	WNT10A	OMIM:224750
HP:0030669	Abnormal ocular adnexa morphology	5238	PGM3	ORPHA:443811
HP:0030669	Abnormal ocular adnexa morphology	55165	CEP55	OMIM:236500
HP:0030669	Abnormal ocular adnexa morphology	55714	TENM3	OMIM:615145
HP:0030669	Abnormal ocular adnexa morphology	57572	DOCK6	OMIM:614219
HP:0030669	Abnormal ocular adnexa morphology	5934	RBL2	OMIM:619690
HP:0030669	Abnormal ocular adnexa morphology	83999	KREMEN1	OMIM:617392
HP:0030669	Abnormal ocular adnexa morphology	8812	CCNK	OMIM:618147
HP:0030669	Abnormal ocular adnexa morphology	165	AEBP1	OMIM:618000
HP:0030669	Abnormal ocular adnexa morphology	773	CACNA1A	ORPHA:2131
HP:0030669	Abnormal ocular adnexa morphology	6507	SLC1A3	ORPHA:2131
HP:0030669	Abnormal ocular adnexa morphology	477	ATP1A2	ORPHA:2131
HP:0030669	Abnormal ocular adnexa morphology	478	ATP1A3	ORPHA:2131
HP:0030669	Abnormal ocular adnexa morphology	8318	CDC45	OMIM:617063
HP:0030669	Abnormal ocular adnexa morphology	10157	AASS	ORPHA:2203
HP:0030669	Abnormal ocular adnexa morphology	78987	CRELD1	OMIM:620771
HP:0030669	Abnormal ocular adnexa morphology	147495	APCDD1	OMIM:605389
HP:0030669	Abnormal ocular adnexa morphology	147495	APCDD1	ORPHA:55654
HP:0030669	Abnormal ocular adnexa morphology	1763	DNA2	OMIM:620819
HP:0030669	Abnormal ocular adnexa morphology	2972	BRF1	OMIM:616202
HP:0030669	Abnormal ocular adnexa morphology	2972	BRF1	ORPHA:444072
HP:0030669	Abnormal ocular adnexa morphology	1825	DSC3	OMIM:613102
HP:0030669	Abnormal ocular adnexa morphology	3872	KRT17	OMIM:167210
HP:0030669	Abnormal ocular adnexa morphology	9076	CLDN1	ORPHA:59303
HP:0030669	Abnormal ocular adnexa morphology	9076	CLDN1	OMIM:607626
HP:0030669	Abnormal ocular adnexa morphology	64324	NSD1	OMIM:117550
HP:0030669	Abnormal ocular adnexa morphology	22845	DOLK	OMIM:610768
HP:0030669	Abnormal ocular adnexa morphology	55697	VAC14	ORPHA:3472
HP:0030669	Abnormal ocular adnexa morphology	8550	MAPKAPK5	OMIM:619869
HP:0030669	Abnormal ocular adnexa morphology	55210	ATAD3A	OMIM:618810
HP:0030669	Abnormal ocular adnexa morphology	374393	FAM111B	OMIM:615704
HP:0030669	Abnormal ocular adnexa morphology	200879	LIPH	OMIM:604379
HP:0030669	Abnormal ocular adnexa morphology	200879	LIPH	ORPHA:55654
HP:0030669	Abnormal ocular adnexa morphology	4035	LRP1	OMIM:604093
HP:0030669	Abnormal ocular adnexa morphology	3675	ITGA3	OMIM:614748
HP:0030669	Abnormal ocular adnexa morphology	10913	EDAR	OMIM:129490
HP:0030669	Abnormal ocular adnexa morphology	10913	EDAR	OMIM:224900
HP:0030669	Abnormal ocular adnexa morphology	10161	LPAR6	ORPHA:55654
HP:0030669	Abnormal ocular adnexa morphology	10161	LPAR6	OMIM:278150
HP:0030669	Abnormal ocular adnexa morphology	10651	MTX2	OMIM:619127
HP:0030669	Abnormal ocular adnexa morphology	25959	KANK2	OMIM:616099
HP:0030669	Abnormal ocular adnexa morphology	11005	SPINK5	OMIM:256500
HP:0030669	Abnormal ocular adnexa morphology	11005	SPINK5	ORPHA:634
HP:0030669	Abnormal ocular adnexa morphology	54676	GTPBP2	OMIM:617988
HP:0030669	Abnormal ocular adnexa morphology	79971	WLS	OMIM:619648
HP:0030669	Abnormal ocular adnexa morphology	7480	WNT10B	OMIM:617073
HP:0030669	Abnormal ocular adnexa morphology	4781	NFIB	OMIM:618286
HP:0030669	Abnormal ocular adnexa morphology	8815	BANF1	OMIM:614008
HP:0030669	Abnormal ocular adnexa morphology	51574	LARP7	ORPHA:319671
HP:0030669	Abnormal ocular adnexa morphology	120766137	HRURF	OMIM:146550
HP:0030669	Abnormal ocular adnexa morphology	6655	SOS2	OMIM:616559
HP:0030669	Abnormal ocular adnexa morphology	6711	SPTBN1	OMIM:619475
HP:0030669	Abnormal ocular adnexa morphology	7045	TGFBI	OMIM:608470
HP:0030669	Abnormal ocular adnexa morphology	27316	RBMX	ORPHA:85286
HP:0030669	Abnormal ocular adnexa morphology	5457	POU4F1	ORPHA:314647
HP:0030669	Abnormal ocular adnexa morphology	23261	CAMTA1	ORPHA:314647
HP:0030669	Abnormal ocular adnexa morphology	23261	CAMTA1	OMIM:614756
HP:0030669	Abnormal ocular adnexa morphology	83550	GPR101	ORPHA:963
HP:0030669	Abnormal ocular adnexa morphology	9049	AIP	ORPHA:963
HP:0030669	Abnormal ocular adnexa morphology	7512	XPNPEP2	ORPHA:100057
HP:0030669	Abnormal ocular adnexa morphology	11133	KPTN	ORPHA:397612
HP:0030669	Abnormal ocular adnexa morphology	5723	PSPH	ORPHA:79350
HP:0030669	Abnormal ocular adnexa morphology	55343	SLC35C1	ORPHA:99843
HP:0030669	Abnormal ocular adnexa morphology	55691	FRMD4A	ORPHA:466688
HP:0030669	Abnormal ocular adnexa morphology	3848	KRT1	ORPHA:312
HP:0030669	Abnormal ocular adnexa morphology	10483	SEC23B	ORPHA:201
HP:0030669	Abnormal ocular adnexa morphology	6390	SDHB	ORPHA:201
HP:0030669	Abnormal ocular adnexa morphology	6392	SDHD	ORPHA:201
HP:0030669	Abnormal ocular adnexa morphology	6391	SDHC	ORPHA:201
HP:0030669	Abnormal ocular adnexa morphology	205717	USF3	ORPHA:201
HP:0030669	Abnormal ocular adnexa morphology	100144748	KLLN	ORPHA:201
HP:0030669	Abnormal ocular adnexa morphology	5396	PRRX1	ORPHA:990
HP:0030669	Abnormal ocular adnexa morphology	5015	OTX2	ORPHA:990
HP:0030669	Abnormal ocular adnexa morphology	6635	SNRPE	OMIM:615059
HP:0030669	Abnormal ocular adnexa morphology	5116	PCNT	ORPHA:2637
HP:0030669	Abnormal ocular adnexa morphology	64421	DCLRE1C	ORPHA:39041
HP:0030669	Abnormal ocular adnexa morphology	100	ADA	ORPHA:39041
HP:0030669	Abnormal ocular adnexa morphology	3575	IL7R	ORPHA:39041
HP:0030669	Abnormal ocular adnexa morphology	3561	IL2RG	ORPHA:39041
HP:0030669	Abnormal ocular adnexa morphology	4047	LSS	ORPHA:2850
HP:0030669	Abnormal ocular adnexa morphology	197	AHSG	ORPHA:2850
HP:0030669	Abnormal ocular adnexa morphology	3694	ITGB6	ORPHA:2850
HP:0030669	Abnormal ocular adnexa morphology	79574	EPS8L3	ORPHA:444
HP:0030669	Abnormal ocular adnexa morphology	55806	HR	ORPHA:444
HP:0030669	Abnormal ocular adnexa morphology	10262	SF3B4	ORPHA:245
HP:0030669	Abnormal ocular adnexa morphology	60401	EDA2R	ORPHA:181
HP:0030669	Abnormal ocular adnexa morphology	1896	EDA	ORPHA:181
HP:0030669	Abnormal ocular adnexa morphology	6144	RPL21	OMIM:615885
HP:0030669	Abnormal ocular adnexa morphology	64682	ANAPC1	ORPHA:221008
HP:0030669	Abnormal ocular adnexa morphology	3909	LAMA3	OMIM:245660
HP:0030669	Abnormal ocular adnexa morphology	8882	ZPR1	OMIM:619321
HP:0030669	Abnormal ocular adnexa morphology	158326	FREM1	OMIM:248450
HP:0030669	Abnormal ocular adnexa morphology	3081	HGD	OMIM:203500
HP:0030669	Abnormal ocular adnexa morphology	1893	ECM1	OMIM:247100
HP:0030668	Periorbital dermoid cyst	5075	PAX1	OMIM:615560
HP:0002226	White eyebrow	5077	PAX3	ORPHA:894
HP:0002226	White eyebrow	5077	PAX3	OMIM:193500
HP:0002226	White eyebrow	5077	PAX3	OMIM:148820
HP:0002226	White eyebrow	1910	EDNRB	OMIM:600501
HP:0002226	White eyebrow	1910	EDNRB	OMIM:277580
HP:0002226	White eyebrow	1910	EDNRB	ORPHA:897
HP:0002226	White eyebrow	4286	MITF	OMIM:193510
HP:0002226	White eyebrow	4286	MITF	ORPHA:42665
HP:0002226	White eyebrow	4286	MITF	OMIM:103500
HP:0002226	White eyebrow	4286	MITF	ORPHA:897
HP:0002226	White eyebrow	6663	SOX10	OMIM:613266
HP:0002226	White eyebrow	6663	SOX10	OMIM:611584
HP:0002226	White eyebrow	6663	SOX10	OMIM:609136
HP:0002226	White eyebrow	6663	SOX10	ORPHA:897
HP:0002226	White eyebrow	1908	EDN3	OMIM:613265
HP:0002226	White eyebrow	1908	EDN3	ORPHA:897
HP:0002226	White eyebrow	4157	MC1R	ORPHA:79432
HP:0002226	White eyebrow	4948	OCA2	ORPHA:79432
HP:0002226	White eyebrow	7306	TYRP1	ORPHA:79433
HP:0002226	White eyebrow	6591	SNAI2	ORPHA:2884
HP:0002226	White eyebrow	3815	KIT	ORPHA:2884
HP:0002226	White eyebrow	4644	MYO5A	OMIM:214450
HP:0004532	Sacral hypertrichosis	166378	AFG2A	ORPHA:457351
HP:0000499	Abnormal eyelash morphology	147409	DSG4	ORPHA:573
HP:0000499	Abnormal eyelash morphology	3892	KRT86	ORPHA:573
HP:0000499	Abnormal eyelash morphology	3889	KRT83	ORPHA:573
HP:0000499	Abnormal eyelash morphology	3887	KRT81	ORPHA:573
HP:0000499	Abnormal eyelash morphology	51360	MBTPS2	ORPHA:2273
HP:0000499	Abnormal eyelash morphology	157680	VPS13B	ORPHA:193
HP:0000499	Abnormal eyelash morphology	1041	CDSN	ORPHA:90368
HP:0000499	Abnormal eyelash morphology	121391	KRT74	ORPHA:90368
HP:0000499	Abnormal eyelash morphology	121391	KRT74	OMIM:194300
HP:0000499	Abnormal eyelash morphology	121391	KRT74	OMIM:613981
HP:0000499	Abnormal eyelash morphology	85378	TUBGCP6	ORPHA:2518
HP:0000499	Abnormal eyelash morphology	27229	TUBGCP4	ORPHA:2518
HP:0000499	Abnormal eyelash morphology	10733	PLK4	ORPHA:2518
HP:0000499	Abnormal eyelash morphology	5604	MAP2K1	ORPHA:1340
HP:0000499	Abnormal eyelash morphology	5605	MAP2K2	ORPHA:1340
HP:0000499	Abnormal eyelash morphology	3845	KRAS	ORPHA:1340
HP:0000499	Abnormal eyelash morphology	3845	KRAS	ORPHA:2396
HP:0000499	Abnormal eyelash morphology	673	BRAF	ORPHA:1340
HP:0000499	Abnormal eyelash morphology	2260	FGFR1	ORPHA:2396
HP:0000499	Abnormal eyelash morphology	64131	XYLT1	ORPHA:1425
HP:0000499	Abnormal eyelash morphology	124583	CANT1	ORPHA:1425
HP:0000499	Abnormal eyelash morphology	55790	CSGALNACT1	ORPHA:1425
HP:0000499	Abnormal eyelash morphology	54539	NDUFB11	ORPHA:2556
HP:0000499	Abnormal eyelash morphology	1349	COX7B	ORPHA:2556
HP:0000499	Abnormal eyelash morphology	3052	HCCS	ORPHA:2556
HP:0000499	Abnormal eyelash morphology	1281	COL3A1	ORPHA:286
HP:0000499	Abnormal eyelash morphology	374879	ZNF699	OMIM:619488
HP:0000499	Abnormal eyelash morphology	80169	CTC1	ORPHA:1775
HP:0000499	Abnormal eyelash morphology	26277	TINF2	ORPHA:1775
HP:0000499	Abnormal eyelash morphology	55651	NHP2	ORPHA:1775
HP:0000499	Abnormal eyelash morphology	79650	USB1	ORPHA:1775
HP:0000499	Abnormal eyelash morphology	55135	WRAP53	ORPHA:1775
HP:0000499	Abnormal eyelash morphology	51750	RTEL1	ORPHA:1775
HP:0000499	Abnormal eyelash morphology	4869	NPM1	ORPHA:1775
HP:0000499	Abnormal eyelash morphology	7012	TERC	ORPHA:1775
HP:0000499	Abnormal eyelash morphology	55505	NOP10	ORPHA:1775
HP:0000499	Abnormal eyelash morphology	5073	PARN	ORPHA:1775
HP:0000499	Abnormal eyelash morphology	7015	TERT	ORPHA:1775
HP:0000499	Abnormal eyelash morphology	1736	DKC1	ORPHA:1775
HP:0000499	Abnormal eyelash morphology	7298	TYMS	ORPHA:1775
HP:0000499	Abnormal eyelash morphology	355	FAS	ORPHA:3437
HP:0000499	Abnormal eyelash morphology	26191	PTPN22	ORPHA:3437
HP:0000499	Abnormal eyelash morphology	3832	KIF11	ORPHA:2526
HP:0000499	Abnormal eyelash morphology	5333	PLCD1	ORPHA:2387
HP:0000499	Abnormal eyelash morphology	64093	SMOC1	OMIM:206920
HP:0000499	Abnormal eyelash morphology	1717	DHCR7	ORPHA:818
HP:0000499	Abnormal eyelash morphology	8243	SMC1A	OMIM:300590
HP:0000499	Abnormal eyelash morphology	8243	SMC1A	ORPHA:199
HP:0000499	Abnormal eyelash morphology	8036	SHOC2	OMIM:607721
HP:0000499	Abnormal eyelash morphology	11253	MAN1B1	ORPHA:397941
HP:0000499	Abnormal eyelash morphology	26235	FBXL4	OMIM:615471
HP:0000499	Abnormal eyelash morphology	23013	SPEN	OMIM:619312
HP:0000499	Abnormal eyelash morphology	8367	H4C5	OMIM:619950
HP:0000499	Abnormal eyelash morphology	9853	RUSC2	OMIM:617773
HP:0000499	Abnormal eyelash morphology	6228	RPS23	OMIM:617412
HP:0000499	Abnormal eyelash morphology	10973	ASCC3	OMIM:620700
HP:0000499	Abnormal eyelash morphology	4897	NRCAM	OMIM:619833
HP:0000499	Abnormal eyelash morphology	10586	MAB21L2	OMIM:615877
HP:0000499	Abnormal eyelash morphology	10274	STAG1	ORPHA:502434
HP:0000499	Abnormal eyelash morphology	85358	SHANK3	OMIM:606232
HP:0000499	Abnormal eyelash morphology	27125	AFF4	ORPHA:444077
HP:0000499	Abnormal eyelash morphology	27125	AFF4	OMIM:616368
HP:0000499	Abnormal eyelash morphology	55869	HDAC8	OMIM:300882
HP:0000499	Abnormal eyelash morphology	55869	HDAC8	ORPHA:199
HP:0000499	Abnormal eyelash morphology	10847	SRCAP	OMIM:136140
HP:0000499	Abnormal eyelash morphology	1436	CSF1R	OMIM:618476
HP:0000499	Abnormal eyelash morphology	9578	CDC42BPB	OMIM:619841
HP:0000499	Abnormal eyelash morphology	29998	BICRA	OMIM:619325
HP:0000499	Abnormal eyelash morphology	80816	ASXL3	OMIM:615485
HP:0000499	Abnormal eyelash morphology	10978	CLP1	ORPHA:411493
HP:0000499	Abnormal eyelash morphology	10978	CLP1	OMIM:615803
HP:0000499	Abnormal eyelash morphology	6536	SLC6A9	OMIM:617301
HP:0000499	Abnormal eyelash morphology	51506	UFC1	OMIM:618076
HP:0000499	Abnormal eyelash morphology	9442	MED27	OMIM:619286
HP:0000499	Abnormal eyelash morphology	1855	DVL1	OMIM:616331
HP:0000499	Abnormal eyelash morphology	1855	DVL1	ORPHA:3107
HP:0000499	Abnormal eyelash morphology	1855	DVL1	OMIM:180700
HP:0000499	Abnormal eyelash morphology	65082	VPS33A	OMIM:617303
HP:0000499	Abnormal eyelash morphology	65082	VPS33A	ORPHA:505248
HP:0000499	Abnormal eyelash morphology	526	ATP6V1B2	OMIM:616455
HP:0000499	Abnormal eyelash morphology	526	ATP6V1B2	ORPHA:3473
HP:0000499	Abnormal eyelash morphology	8085	KMT2D	ORPHA:2322
HP:0000499	Abnormal eyelash morphology	8085	KMT2D	OMIM:147920
HP:0000499	Abnormal eyelash morphology	7403	KDM6A	ORPHA:2322
HP:0000499	Abnormal eyelash morphology	7403	KDM6A	OMIM:300867
HP:0000499	Abnormal eyelash morphology	7403	KDM6A	OMIM:147920
HP:0000499	Abnormal eyelash morphology	55690	PACS1	OMIM:615009
HP:0000499	Abnormal eyelash morphology	55690	PACS1	ORPHA:329224
HP:0000499	Abnormal eyelash morphology	4081	MAB21L1	OMIM:618479
HP:0000499	Abnormal eyelash morphology	4081	MAB21L1	ORPHA:495875
HP:0000499	Abnormal eyelash morphology	2250	FGF5	OMIM:190330
HP:0000499	Abnormal eyelash morphology	10908	PNPLA6	OMIM:275400
HP:0000499	Abnormal eyelash morphology	10908	PNPLA6	ORPHA:3363
HP:0000499	Abnormal eyelash morphology	3764	KCNJ8	ORPHA:1517
HP:0000499	Abnormal eyelash morphology	10060	ABCC9	ORPHA:1517
HP:0000499	Abnormal eyelash morphology	10060	ABCC9	OMIM:239850
HP:0000499	Abnormal eyelash morphology	9126	SMC3	OMIM:610759
HP:0000499	Abnormal eyelash morphology	9126	SMC3	ORPHA:199
HP:0000499	Abnormal eyelash morphology	4297	KMT2A	OMIM:605130
HP:0000499	Abnormal eyelash morphology	4297	KMT2A	ORPHA:319182
HP:0000499	Abnormal eyelash morphology	6595	SMARCA2	OMIM:619293
HP:0000499	Abnormal eyelash morphology	6595	SMARCA2	ORPHA:3051
HP:0000499	Abnormal eyelash morphology	6595	SMARCA2	OMIM:601358
HP:0000499	Abnormal eyelash morphology	55777	MBD5	OMIM:156200
HP:0000499	Abnormal eyelash morphology	23221	RHOBTB2	OMIM:618004
HP:0000499	Abnormal eyelash morphology	57492	ARID1B	OMIM:135900
HP:0000499	Abnormal eyelash morphology	1956	EGFR	OMIM:616069
HP:0000499	Abnormal eyelash morphology	4998	ORC1	OMIM:224690
HP:0000499	Abnormal eyelash morphology	6601	SMARCC2	OMIM:618362
HP:0000499	Abnormal eyelash morphology	4052	LTBP1	OMIM:619451
HP:0000499	Abnormal eyelash morphology	8260	NAA10	OMIM:300855
HP:0000499	Abnormal eyelash morphology	80204	FBXO11	OMIM:618089
HP:0000499	Abnormal eyelash morphology	8120	AP3B2	OMIM:617276
HP:0000499	Abnormal eyelash morphology	5119	CHMP1A	OMIM:614961
HP:0000499	Abnormal eyelash morphology	55603	TENT5A	OMIM:617952
HP:0000499	Abnormal eyelash morphology	4853	NOTCH2	OMIM:102500
HP:0000499	Abnormal eyelash morphology	64359	NXN	OMIM:618529
HP:0000499	Abnormal eyelash morphology	64359	NXN	ORPHA:1507
HP:0000499	Abnormal eyelash morphology	93627	TBCK	OMIM:616900
HP:0000499	Abnormal eyelash morphology	4920	ROR2	ORPHA:1507
HP:0000499	Abnormal eyelash morphology	4920	ROR2	OMIM:268310
HP:0000499	Abnormal eyelash morphology	8289	ARID1A	OMIM:614607
HP:0000499	Abnormal eyelash morphology	7841	MOGS	OMIM:606056
HP:0000499	Abnormal eyelash morphology	7841	MOGS	ORPHA:79330
HP:0000499	Abnormal eyelash morphology	2200	FBN1	ORPHA:969
HP:0000499	Abnormal eyelash morphology	2200	FBN1	OMIM:102370
HP:0000499	Abnormal eyelash morphology	4054	LTBP3	ORPHA:969
HP:0000499	Abnormal eyelash morphology	6598	SMARCB1	OMIM:614608
HP:0000499	Abnormal eyelash morphology	6597	SMARCA4	OMIM:614609
HP:0000499	Abnormal eyelash morphology	22827	PUF60	ORPHA:508488
HP:0000499	Abnormal eyelash morphology	9377	COX5A	OMIM:619064
HP:0000499	Abnormal eyelash morphology	6045	RNF2	OMIM:619460
HP:0000499	Abnormal eyelash morphology	6872	TAF1	ORPHA:480907
HP:0000499	Abnormal eyelash morphology	23258	DENND5A	OMIM:617281
HP:0000499	Abnormal eyelash morphology	9496	TBX4	ORPHA:261279
HP:0000499	Abnormal eyelash morphology	1105	CHD1	OMIM:617682
HP:0000499	Abnormal eyelash morphology	22872	SEC31A	OMIM:618651
HP:0000499	Abnormal eyelash morphology	283987	HID1	OMIM:619983
HP:0000499	Abnormal eyelash morphology	23314	SATB2	OMIM:612313
HP:0000499	Abnormal eyelash morphology	649	BMP1	OMIM:614856
HP:0000499	Abnormal eyelash morphology	2783	GNB2	OMIM:619503
HP:0000499	Abnormal eyelash morphology	3782	KCNN3	OMIM:618658
HP:0000499	Abnormal eyelash morphology	3782	KCNN3	ORPHA:3473
HP:0000499	Abnormal eyelash morphology	3756	KCNH1	ORPHA:3473
HP:0000499	Abnormal eyelash morphology	3756	KCNH1	ORPHA:420561
HP:0000499	Abnormal eyelash morphology	26834	RNU4-2	OMIM:620851
HP:0000499	Abnormal eyelash morphology	4247	MGAT2	OMIM:212066
HP:0000499	Abnormal eyelash morphology	4247	MGAT2	ORPHA:79329
HP:0000499	Abnormal eyelash morphology	23476	BRD4	ORPHA:199
HP:0000499	Abnormal eyelash morphology	6878	TAF6	ORPHA:199
HP:0000499	Abnormal eyelash morphology	6878	TAF6	OMIM:617126
HP:0000499	Abnormal eyelash morphology	25836	NIPBL	ORPHA:199
HP:0000499	Abnormal eyelash morphology	25836	NIPBL	OMIM:122470
HP:0000499	Abnormal eyelash morphology	5885	RAD21	ORPHA:199
HP:0000499	Abnormal eyelash morphology	50801	KCNK4	OMIM:618381
HP:0000499	Abnormal eyelash morphology	10664	CTCF	ORPHA:363611
HP:0000499	Abnormal eyelash morphology	10664	CTCF	OMIM:615502
HP:0000499	Abnormal eyelash morphology	57003	CCDC47	OMIM:618268
HP:0000499	Abnormal eyelash morphology	149371	EXOC8	OMIM:619076
HP:0000499	Abnormal eyelash morphology	51633	OTUD6B	OMIM:617452
HP:0000499	Abnormal eyelash morphology	51633	OTUD6B	ORPHA:505237
HP:0000499	Abnormal eyelash morphology	2033	EP300	OMIM:180849
HP:0000499	Abnormal eyelash morphology	2033	EP300	OMIM:613684
HP:0000499	Abnormal eyelash morphology	1387	CREBBP	OMIM:180849
HP:0000499	Abnormal eyelash morphology	1387	CREBBP	ORPHA:592574
HP:0000499	Abnormal eyelash morphology	1387	CREBBP	OMIM:618332
HP:0000499	Abnormal eyelash morphology	1857	DVL3	ORPHA:3107
HP:0000499	Abnormal eyelash morphology	1857	DVL3	OMIM:616894
HP:0000499	Abnormal eyelash morphology	7474	WNT5A	ORPHA:3107
HP:0000499	Abnormal eyelash morphology	7474	WNT5A	OMIM:180700
HP:0000499	Abnormal eyelash morphology	2535	FZD2	ORPHA:3107
HP:0000499	Abnormal eyelash morphology	9681	DEPDC5	OMIM:620504
HP:0000499	Abnormal eyelash morphology	57282	SLC4A10	OMIM:620746
HP:0000499	Abnormal eyelash morphology	92609	TIMM50	OMIM:617698
HP:0000499	Abnormal eyelash morphology	85440	DOCK7	ORPHA:411986
HP:0000499	Abnormal eyelash morphology	85440	DOCK7	OMIM:615859
HP:0000499	Abnormal eyelash morphology	54499	TMCO1	OMIM:213980
HP:0000499	Abnormal eyelash morphology	8405	SPOP	OMIM:618828
HP:0000499	Abnormal eyelash morphology	283209	PGM2L1	OMIM:620191
HP:0000499	Abnormal eyelash morphology	4094	MAF	ORPHA:1272
HP:0000499	Abnormal eyelash morphology	4089	SMAD4	OMIM:139210
HP:0000499	Abnormal eyelash morphology	51305	KCNK9	OMIM:612292
HP:0000499	Abnormal eyelash morphology	8567	MADD	OMIM:619005
HP:0000499	Abnormal eyelash morphology	1806	DPYD	ORPHA:1675
HP:0000499	Abnormal eyelash morphology	23261	CAMTA1	OMIM:614756
HP:0000499	Abnormal eyelash morphology	6605	SMARCE1	OMIM:616938
HP:0000499	Abnormal eyelash morphology	60	ACTB	OMIM:620475
HP:0000499	Abnormal eyelash morphology	55343	SLC35C1	ORPHA:99843
HP:0000499	Abnormal eyelash morphology	55691	FRMD4A	OMIM:616819
HP:0000499	Abnormal eyelash morphology	55691	FRMD4A	ORPHA:466688
HP:0000499	Abnormal eyelash morphology	5495	PPM1B	ORPHA:163693
HP:0000499	Abnormal eyelash morphology	6519	SLC3A1	ORPHA:163693
HP:0000499	Abnormal eyelash morphology	9581	PREPL	ORPHA:163693
HP:0000499	Abnormal eyelash morphology	79823	CAMKMT	ORPHA:163693
HP:0000499	Abnormal eyelash morphology	55252	ASXL2	OMIM:617190
HP:0000499	Abnormal eyelash morphology	10463	SLC30A9	OMIM:617595
HP:0000499	Abnormal eyelash morphology	26047	CNTNAP2	OMIM:610042
HP:0000499	Abnormal eyelash morphology	57479	PRR12	OMIM:619539
HP:0000499	Abnormal eyelash morphology	738	VPS51	OMIM:618606
HP:0000499	Abnormal eyelash morphology	4848	CNOT2	OMIM:618608
HP:0000499	Abnormal eyelash morphology	29071	C1GALT1C1	OMIM:301110
HP:0000499	Abnormal eyelash morphology	84842	HPDL	OMIM:619026
HP:0000499	Abnormal eyelash morphology	5881	RAC3	OMIM:618577
HP:0000499	Abnormal eyelash morphology	672	BRCA1	OMIM:617883
HP:0000499	Abnormal eyelash morphology	9181	ARHGEF2	OMIM:617523
HP:0000499	Abnormal eyelash morphology	1642	DDB1	OMIM:619426
HP:0000499	Abnormal eyelash morphology	7407	VARS1	OMIM:617802
HP:0000499	Abnormal eyelash morphology	6664	SOX11	OMIM:615866
HP:0000499	Abnormal eyelash morphology	283450	HECTD4	OMIM:620250
HP:0000499	Abnormal eyelash morphology	90952	ESAM	OMIM:620371
HP:0000499	Abnormal eyelash morphology	54345	SOX18	OMIM:137940
HP:0000499	Abnormal eyelash morphology	54345	SOX18	OMIM:607823
HP:0000499	Abnormal eyelash morphology	54345	SOX18	ORPHA:69735
HP:0000499	Abnormal eyelash morphology	8626	TP63	OMIM:106260
HP:0000499	Abnormal eyelash morphology	5317	PKP1	OMIM:604536
HP:0000499	Abnormal eyelash morphology	1896	EDA	OMIM:305100
HP:0000499	Abnormal eyelash morphology	1832	DSP	ORPHA:158687
HP:0000499	Abnormal eyelash morphology	3728	JUP	ORPHA:158687
HP:0000499	Abnormal eyelash morphology	4035	LRP1	OMIM:604093
HP:0000499	Abnormal eyelash morphology	128178	EDARADD	OMIM:614941
HP:0000499	Abnormal eyelash morphology	10283	CWC27	OMIM:250410
HP:0000499	Abnormal eyelash morphology	10283	CWC27	ORPHA:166035
HP:0000499	Abnormal eyelash morphology	11128	POLR3A	OMIM:264090
HP:0000499	Abnormal eyelash morphology	80144	FRAS1	OMIM:219000
HP:0000499	Abnormal eyelash morphology	3891	KRT85	OMIM:602032
HP:0000499	Abnormal eyelash morphology	2255	FGF10	OMIM:620193
HP:0000499	Abnormal eyelash morphology	84172	POLR1B	ORPHA:861
HP:0000499	Abnormal eyelash morphology	9533	POLR1C	ORPHA:861
HP:0000499	Abnormal eyelash morphology	51082	POLR1D	ORPHA:861
HP:0000499	Abnormal eyelash morphology	267010	RNU12	ORPHA:85199
HP:0000499	Abnormal eyelash morphology	4953	ODC1	ORPHA:544488
HP:0000499	Abnormal eyelash morphology	3229	HOXC13	OMIM:614931
HP:0000499	Abnormal eyelash morphology	26227	PHGDH	OMIM:256520
HP:0000499	Abnormal eyelash morphology	147495	APCDD1	OMIM:605389
HP:0000499	Abnormal eyelash morphology	147495	APCDD1	ORPHA:55654
HP:0000499	Abnormal eyelash morphology	60529	ALX4	OMIM:613451
HP:0000499	Abnormal eyelash morphology	81607	NECTIN4	OMIM:613573
HP:0000499	Abnormal eyelash morphology	8092	ALX1	OMIM:613456
HP:0000499	Abnormal eyelash morphology	8092	ALX1	ORPHA:306542
HP:0000499	Abnormal eyelash morphology	57539	WDR35	OMIM:613610
HP:0000499	Abnormal eyelash morphology	1825	DSC3	OMIM:613102
HP:0000499	Abnormal eyelash morphology	9076	CLDN1	ORPHA:59303
HP:0000499	Abnormal eyelash morphology	9076	CLDN1	OMIM:607626
HP:0000499	Abnormal eyelash morphology	83999	KREMEN1	OMIM:617392
HP:0000499	Abnormal eyelash morphology	9698	PUM1	OMIM:620719
HP:0000499	Abnormal eyelash morphology	10265	IRX5	OMIM:611174
HP:0000499	Abnormal eyelash morphology	112802	KRT71	OMIM:615896
HP:0000499	Abnormal eyelash morphology	1801	DPH1	OMIM:616901
HP:0000499	Abnormal eyelash morphology	22845	DOLK	OMIM:610768
HP:0000499	Abnormal eyelash morphology	10804	GJB6	OMIM:129500
HP:0000499	Abnormal eyelash morphology	10804	GJB6	ORPHA:477
HP:0000499	Abnormal eyelash morphology	10804	GJB6	ORPHA:189
HP:0000499	Abnormal eyelash morphology	1301	COL11A1	ORPHA:560
HP:0000499	Abnormal eyelash morphology	9896	FIG4	ORPHA:3472
HP:0000499	Abnormal eyelash morphology	9896	FIG4	OMIM:216340
HP:0000499	Abnormal eyelash morphology	55697	VAC14	ORPHA:3472
HP:0000499	Abnormal eyelash morphology	10682	EBP	ORPHA:35173
HP:0000499	Abnormal eyelash morphology	10682	EBP	OMIM:302960
HP:0000499	Abnormal eyelash morphology	1474	CST6	OMIM:618535
HP:0000499	Abnormal eyelash morphology	374393	FAM111B	OMIM:615704
HP:0000499	Abnormal eyelash morphology	2697	GJA1	OMIM:257850
HP:0000499	Abnormal eyelash morphology	2697	GJA1	ORPHA:1010
HP:0000499	Abnormal eyelash morphology	11285	B4GALT7	ORPHA:75496
HP:0000499	Abnormal eyelash morphology	200879	LIPH	OMIM:604379
HP:0000499	Abnormal eyelash morphology	200879	LIPH	ORPHA:55654
HP:0000499	Abnormal eyelash morphology	147183	KRT25	OMIM:616760
HP:0000499	Abnormal eyelash morphology	1001	CDH3	OMIM:225280
HP:0000499	Abnormal eyelash morphology	6023	RMRP	OMIM:250250
HP:0000499	Abnormal eyelash morphology	1909	EDNRA	OMIM:616367
HP:0000499	Abnormal eyelash morphology	3675	ITGA3	OMIM:614748
HP:0000499	Abnormal eyelash morphology	10913	EDAR	OMIM:129490
HP:0000499	Abnormal eyelash morphology	10913	EDAR	OMIM:224900
HP:0000499	Abnormal eyelash morphology	10161	LPAR6	ORPHA:55654
HP:0000499	Abnormal eyelash morphology	10161	LPAR6	OMIM:278150
HP:0000499	Abnormal eyelash morphology	51611	DPH5	OMIM:620070
HP:0000499	Abnormal eyelash morphology	136647	MPLKIP	OMIM:234050
HP:0000499	Abnormal eyelash morphology	25959	KANK2	OMIM:616099
HP:0000499	Abnormal eyelash morphology	54676	GTPBP2	OMIM:617988
HP:0000499	Abnormal eyelash morphology	84946	LTV1	OMIM:620199
HP:0000499	Abnormal eyelash morphology	4763	NF1	ORPHA:139474
HP:0000499	Abnormal eyelash morphology	5818	NECTIN1	OMIM:225060
HP:0000499	Abnormal eyelash morphology	84168	ANTXR1	OMIM:230740
HP:0000499	Abnormal eyelash morphology	84168	ANTXR1	ORPHA:2067
HP:0000499	Abnormal eyelash morphology	8815	BANF1	OMIM:614008
HP:0000499	Abnormal eyelash morphology	641	BLM	ORPHA:125
HP:0000499	Abnormal eyelash morphology	90121	TSR2	OMIM:300946
HP:0000499	Abnormal eyelash morphology	120766137	HRURF	OMIM:146550
HP:0000499	Abnormal eyelash morphology	84181	CHD6	ORPHA:2108
HP:0000499	Abnormal eyelash morphology	7227	TRPS1	ORPHA:77258
HP:0000499	Abnormal eyelash morphology	11005	SPINK5	ORPHA:634
HP:0000499	Abnormal eyelash morphology	2706	GJB2	OMIM:148210
HP:0000499	Abnormal eyelash morphology	54892	NCAPG2	OMIM:618460
HP:0000499	Abnormal eyelash morphology	5077	PAX3	ORPHA:894
HP:0000499	Abnormal eyelash morphology	5077	PAX3	OMIM:193500
HP:0000499	Abnormal eyelash morphology	5077	PAX3	OMIM:148820
HP:0000499	Abnormal eyelash morphology	1910	EDNRB	OMIM:600501
HP:0000499	Abnormal eyelash morphology	1910	EDNRB	OMIM:277580
HP:0000499	Abnormal eyelash morphology	1910	EDNRB	ORPHA:897
HP:0000499	Abnormal eyelash morphology	4286	MITF	OMIM:193510
HP:0000499	Abnormal eyelash morphology	4286	MITF	OMIM:103500
HP:0000499	Abnormal eyelash morphology	4286	MITF	ORPHA:897
HP:0000499	Abnormal eyelash morphology	6663	SOX10	OMIM:613266
HP:0000499	Abnormal eyelash morphology	6663	SOX10	OMIM:611584
HP:0000499	Abnormal eyelash morphology	6663	SOX10	OMIM:609136
HP:0000499	Abnormal eyelash morphology	6663	SOX10	ORPHA:897
HP:0000499	Abnormal eyelash morphology	1908	EDN3	OMIM:613265
HP:0000499	Abnormal eyelash morphology	1908	EDN3	ORPHA:897
HP:0000499	Abnormal eyelash morphology	79083	MLPH	OMIM:609227
HP:0000499	Abnormal eyelash morphology	4157	MC1R	ORPHA:79432
HP:0000499	Abnormal eyelash morphology	4948	OCA2	ORPHA:79432
HP:0000499	Abnormal eyelash morphology	7306	TYRP1	ORPHA:79433
HP:0000499	Abnormal eyelash morphology	6591	SNAI2	ORPHA:2884
HP:0000499	Abnormal eyelash morphology	3815	KIT	ORPHA:2884
HP:0000499	Abnormal eyelash morphology	4644	MYO5A	OMIM:214450
HP:0000499	Abnormal eyelash morphology	5965	RECQL	OMIM:620370
HP:0000499	Abnormal eyelash morphology	6768	ST14	OMIM:602400
HP:0000499	Abnormal eyelash morphology	10735	STAG2	OMIM:301022
HP:0000499	Abnormal eyelash morphology	3339	HSPG2	OMIM:255800
HP:0000499	Abnormal eyelash morphology	3339	HSPG2	ORPHA:800
HP:0000499	Abnormal eyelash morphology	29957	SLC25A24	ORPHA:2963
HP:0000499	Abnormal eyelash morphology	10262	SF3B4	ORPHA:245
HP:0000499	Abnormal eyelash morphology	10262	SF3B4	OMIM:154400
HP:0000499	Abnormal eyelash morphology	6949	TCOF1	OMIM:154500
HP:0000499	Abnormal eyelash morphology	80324	PUS1	OMIM:600462
HP:0000499	Abnormal eyelash morphology	80324	PUS1	ORPHA:2598
HP:0000499	Abnormal eyelash morphology	1500	CTNND1	OMIM:617681
HP:0000499	Abnormal eyelash morphology	1500	CTNND1	ORPHA:1997
HP:0000499	Abnormal eyelash morphology	2303	FOXC2	OMIM:153400
HP:0000499	Abnormal eyelash morphology	2303	FOXC2	ORPHA:33001
HP:0000499	Abnormal eyelash morphology	1748	DLX4	OMIM:616788
HP:0000499	Abnormal eyelash morphology	999	CDH1	OMIM:119580
HP:0000499	Abnormal eyelash morphology	999	CDH1	ORPHA:1997
HP:0000499	Abnormal eyelash morphology	51067	YARS2	ORPHA:2598
HP:0000499	Abnormal eyelash morphology	8313	AXIN2	OMIM:608615
HP:0000499	Abnormal eyelash morphology	4733	DRG1	OMIM:620641
HP:0000499	Abnormal eyelash morphology	4047	LSS	OMIM:618275
HP:0000499	Abnormal eyelash morphology	80326	WNT10A	OMIM:150400
HP:0000499	Abnormal eyelash morphology	6659	SOX4	ORPHA:1465
HP:0000499	Abnormal eyelash morphology	5977	DPF2	ORPHA:1465
HP:0000499	Abnormal eyelash morphology	6602	SMARCD1	ORPHA:1465
HP:0000499	Abnormal eyelash morphology	196528	ARID2	ORPHA:1465
HP:0000499	Abnormal eyelash morphology	100151683	RNU4ATAC	ORPHA:353298
HP:0000499	Abnormal eyelash morphology	100151683	RNU4ATAC	OMIM:616651
HP:0000499	Abnormal eyelash morphology	4001	LMNB1	OMIM:619179
HP:0000499	Abnormal eyelash morphology	29920	PYCR2	OMIM:616420
HP:0000499	Abnormal eyelash morphology	7543	ZFX	OMIM:301118
HP:0000499	Abnormal eyelash morphology	4000	LMNA	ORPHA:740
HP:0000499	Abnormal eyelash morphology	10269	ZMPSTE24	ORPHA:740
HP:0000499	Abnormal eyelash morphology	7390	UROS	OMIM:263700
HP:0000499	Abnormal eyelash morphology	7390	UROS	ORPHA:79277
HP:0000499	Abnormal eyelash morphology	2623	GATA1	ORPHA:79277
HP:0000499	Abnormal eyelash morphology	7389	UROD	ORPHA:95159
HP:0000499	Abnormal eyelash morphology	2703	GJA8	OMIM:612474
HP:0000499	Abnormal eyelash morphology	2702	GJA5	OMIM:612474
HP:0000499	Abnormal eyelash morphology	79574	EPS8L3	ORPHA:444
HP:0000499	Abnormal eyelash morphology	55806	HR	ORPHA:444
HP:0000499	Abnormal eyelash morphology	6144	RPL21	OMIM:615885
HP:0000499	Abnormal eyelash morphology	54101	RIPK4	ORPHA:1234
HP:0000499	Abnormal eyelash morphology	9401	RECQL4	ORPHA:221016
HP:0000499	Abnormal eyelash morphology	6635	SNRPE	OMIM:615059
HP:0000499	Abnormal eyelash morphology	117581	TWIST2	ORPHA:1231
HP:0000499	Abnormal eyelash morphology	64682	ANAPC1	ORPHA:221008
HP:0025370	Abnormal ossification of the sacrum	1280	COL2A1	ORPHA:93296
HP:0025370	Abnormal ossification of the sacrum	168667	BMPER	OMIM:608022
HP:0025372	Loud snoring	2990	GUSB	OMIM:253220
HP:0025372	Loud snoring	24142	NAA80	OMIM:620830
HP:0025373	Interictal EEG abnormality	401474	SAMD12	OMIM:601068
HP:0025373	Interictal EEG abnormality	56910	STARD7	OMIM:607876
HP:0025373	Interictal EEG abnormality	6326	SCN2A	OMIM:607745
HP:0025373	Interictal EEG abnormality	6326	SCN2A	ORPHA:306
HP:0025373	Interictal EEG abnormality	5138	PDE2A	ORPHA:31709
HP:0025373	Interictal EEG abnormality	6334	SCN8A	ORPHA:31709
HP:0025373	Interictal EEG abnormality	6334	SCN8A	ORPHA:306
HP:0025373	Interictal EEG abnormality	112476	PRRT2	ORPHA:31709
HP:0025373	Interictal EEG abnormality	112476	PRRT2	ORPHA:306
HP:0025373	Interictal EEG abnormality	112476	PRRT2	OMIM:602066
HP:0025373	Interictal EEG abnormality	3785	KCNQ2	ORPHA:306
HP:0025373	Interictal EEG abnormality	3786	KCNQ3	ORPHA:306
HP:0025373	Interictal EEG abnormality	55689	YEATS2	OMIM:615127
HP:0025373	Interictal EEG abnormality	60482	SLC5A7	ORPHA:98914
HP:0025373	Interictal EEG abnormality	4649	MYO9A	ORPHA:98914
HP:0025373	Interictal EEG abnormality	1305	COL13A1	ORPHA:98914
HP:0025373	Interictal EEG abnormality	1103	CHAT	ORPHA:98914
HP:0025373	Interictal EEG abnormality	6576	SLC25A1	ORPHA:98914
HP:0025373	Interictal EEG abnormality	6843	VAMP1	ORPHA:98914
HP:0025373	Interictal EEG abnormality	375790	AGRN	ORPHA:98914
HP:0025373	Interictal EEG abnormality	127833	SYT2	ORPHA:98914
HP:0025373	Interictal EEG abnormality	6572	SLC18A3	ORPHA:98914
HP:0025373	Interictal EEG abnormality	6616	SNAP25	ORPHA:98914
HP:0025373	Interictal EEG abnormality	1181	CLCN2	ORPHA:307
HP:0025373	Interictal EEG abnormality	22858	CILK1	ORPHA:307
HP:0025373	Interictal EEG abnormality	8629	JRK	ORPHA:307
HP:0025373	Interictal EEG abnormality	144165	PRICKLE1	ORPHA:308
HP:0025373	Interictal EEG abnormality	950	SCARB2	ORPHA:308
HP:0025373	Interictal EEG abnormality	3155	HMGCL	ORPHA:20
HP:0025373	Interictal EEG abnormality	8243	SMC1A	OMIM:301044
HP:0025373	Interictal EEG abnormality	199857	ALG14	OMIM:619036
HP:0025373	Interictal EEG abnormality	9853	RUSC2	OMIM:617773
HP:0025373	Interictal EEG abnormality	343450	KCNT2	OMIM:617771
HP:0025373	Interictal EEG abnormality	10564	ARFGEF2	OMIM:608097
HP:0025373	Interictal EEG abnormality	1798	DPAGT1	OMIM:608093
HP:0025373	Interictal EEG abnormality	1798	DPAGT1	ORPHA:86309
HP:0025373	Interictal EEG abnormality	2653	GCSH	OMIM:620423
HP:0025373	Interictal EEG abnormality	9526	MPDU1	OMIM:609180
HP:0025373	Interictal EEG abnormality	9526	MPDU1	ORPHA:79323
HP:0025373	Interictal EEG abnormality	6328	SCN3A	OMIM:617938
HP:0025373	Interictal EEG abnormality	6328	SCN3A	ORPHA:442835
HP:0025373	Interictal EEG abnormality	4076	CAPRIN1	OMIM:620782
HP:0025373	Interictal EEG abnormality	8496	PPFIBP1	OMIM:620024
HP:0025373	Interictal EEG abnormality	170302	ARX	OMIM:308350
HP:0025373	Interictal EEG abnormality	170302	ARX	ORPHA:3451
HP:0025373	Interictal EEG abnormality	170302	ARX	ORPHA:1934
HP:0025373	Interictal EEG abnormality	2258	FGF13	OMIM:301058
HP:0025373	Interictal EEG abnormality	51112	TRAPPC12	ORPHA:500144
HP:0025373	Interictal EEG abnormality	51112	TRAPPC12	OMIM:617669
HP:0025373	Interictal EEG abnormality	26275	HIBCH	ORPHA:88639
HP:0025373	Interictal EEG abnormality	64801	ARV1	OMIM:617020
HP:0025373	Interictal EEG abnormality	79868	ALG13	OMIM:300884
HP:0025373	Interictal EEG abnormality	79868	ALG13	ORPHA:324422
HP:0025373	Interictal EEG abnormality	8867	SYNJ1	OMIM:617389
HP:0025373	Interictal EEG abnormality	8867	SYNJ1	ORPHA:442835
HP:0025373	Interictal EEG abnormality	10659	CELF2	OMIM:619561
HP:0025373	Interictal EEG abnormality	10659	CELF2	ORPHA:442835
HP:0025373	Interictal EEG abnormality	51506	UFC1	OMIM:618076
HP:0025373	Interictal EEG abnormality	3745	KCNB1	OMIM:616056
HP:0025373	Interictal EEG abnormality	3745	KCNB1	ORPHA:442835
HP:0025373	Interictal EEG abnormality	6487	ST3GAL3	OMIM:615006
HP:0025373	Interictal EEG abnormality	6487	ST3GAL3	ORPHA:3451
HP:0025373	Interictal EEG abnormality	112939	NACC1	ORPHA:500545
HP:0025373	Interictal EEG abnormality	157922	CAMSAP1	OMIM:620316
HP:0025373	Interictal EEG abnormality	55780	ERMARD	ORPHA:75857
HP:0025373	Interictal EEG abnormality	55780	ERMARD	OMIM:615544
HP:0025373	Interictal EEG abnormality	3767	KCNJ11	ORPHA:79134
HP:0025373	Interictal EEG abnormality	3767	KCNJ11	OMIM:618856
HP:0025373	Interictal EEG abnormality	79731	NARS2	ORPHA:79134
HP:0025373	Interictal EEG abnormality	23097	CDK19	OMIM:618916
HP:0025373	Interictal EEG abnormality	23097	CDK19	ORPHA:442835
HP:0025373	Interictal EEG abnormality	161725	OTUD7A	OMIM:620790
HP:0025373	Interictal EEG abnormality	4763	NF1	OMIM:162200
HP:0025373	Interictal EEG abnormality	84340	GFM2	ORPHA:565624
HP:0025373	Interictal EEG abnormality	84340	GFM2	OMIM:618397
HP:0025373	Interictal EEG abnormality	2560	GABRB1	OMIM:617153
HP:0025373	Interictal EEG abnormality	79641	ROGDI	OMIM:226750
HP:0025373	Interictal EEG abnormality	150094	SIK1	OMIM:616341
HP:0025373	Interictal EEG abnormality	150094	SIK1	ORPHA:3451
HP:0025373	Interictal EEG abnormality	150094	SIK1	ORPHA:1934
HP:0025373	Interictal EEG abnormality	535	ATP6V0A1	OMIM:619970
HP:0025373	Interictal EEG abnormality	8120	AP3B2	OMIM:617276
HP:0025373	Interictal EEG abnormality	8120	AP3B2	ORPHA:442835
HP:0025373	Interictal EEG abnormality	166378	AFG2A	ORPHA:457351
HP:0025373	Interictal EEG abnormality	4915	NTRK2	OMIM:617830
HP:0025373	Interictal EEG abnormality	4915	NTRK2	ORPHA:442835
HP:0025373	Interictal EEG abnormality	4915	NTRK2	ORPHA:3451
HP:0025373	Interictal EEG abnormality	9326	ZNHIT3	ORPHA:2836
HP:0025373	Interictal EEG abnormality	9326	ZNHIT3	OMIM:260565
HP:0025373	Interictal EEG abnormality	7965	AIMP2	OMIM:618006
HP:0025373	Interictal EEG abnormality	3054	HCFC1	OMIM:309541
HP:0025373	Interictal EEG abnormality	26999	CYFIP2	OMIM:618008
HP:0025373	Interictal EEG abnormality	26999	CYFIP2	ORPHA:442835
HP:0025373	Interictal EEG abnormality	5805	PTS	ORPHA:13
HP:0025373	Interictal EEG abnormality	1327	COX4I1	OMIM:619060
HP:0025373	Interictal EEG abnormality	2906	GRIN2D	OMIM:617162
HP:0025373	Interictal EEG abnormality	2906	GRIN2D	ORPHA:442835
HP:0025373	Interictal EEG abnormality	25930	PTPN23	OMIM:618890
HP:0025373	Interictal EEG abnormality	23327	NEDD4L	OMIM:617201
HP:0025373	Interictal EEG abnormality	1822	ATN1	OMIM:618494
HP:0025373	Interictal EEG abnormality	132158	GLYCTK	OMIM:220120
HP:0025373	Interictal EEG abnormality	4761	NEUROD2	OMIM:618374
HP:0025373	Interictal EEG abnormality	4761	NEUROD2	ORPHA:1934
HP:0025373	Interictal EEG abnormality	84896	ATAD1	OMIM:618011
HP:0025373	Interictal EEG abnormality	523	ATP6V1A	OMIM:618012
HP:0025373	Interictal EEG abnormality	523	ATP6V1A	ORPHA:442835
HP:0025373	Interictal EEG abnormality	523	ATP6V1A	OMIM:617403
HP:0025373	Interictal EEG abnormality	1641	DCX	ORPHA:2148
HP:0025373	Interictal EEG abnormality	284184	NDUFAF8	OMIM:618776
HP:0025373	Interictal EEG abnormality	3737	KCNA2	ORPHA:442835
HP:0025373	Interictal EEG abnormality	10991	SLC38A3	ORPHA:442835
HP:0025373	Interictal EEG abnormality	51343	FZR1	ORPHA:442835
HP:0025373	Interictal EEG abnormality	1917	EEF1A2	ORPHA:442835
HP:0025373	Interictal EEG abnormality	1917	EEF1A2	OMIM:616409
HP:0025373	Interictal EEG abnormality	23219	FBXO28	ORPHA:442835
HP:0025373	Interictal EEG abnormality	2561	GABRB2	ORPHA:442835
HP:0025373	Interictal EEG abnormality	2558	GABRA5	ORPHA:442835
HP:0025373	Interictal EEG abnormality	116150	NUS1	ORPHA:442835
HP:0025373	Interictal EEG abnormality	1213	CLTC	ORPHA:442835
HP:0025373	Interictal EEG abnormality	51741	WWOX	ORPHA:442835
HP:0025373	Interictal EEG abnormality	23334	SZT2	ORPHA:442835
HP:0025373	Interictal EEG abnormality	348980	HCN1	ORPHA:442835
HP:0025373	Interictal EEG abnormality	23241	PACS2	ORPHA:442835
HP:0025373	Interictal EEG abnormality	16	AARS1	ORPHA:442835
HP:0025373	Interictal EEG abnormality	2555	GABRA2	ORPHA:442835
HP:0025373	Interictal EEG abnormality	55152	DALRD3	ORPHA:442835
HP:0025373	Interictal EEG abnormality	25973	PARS2	ORPHA:442835
HP:0025373	Interictal EEG abnormality	25973	PARS2	OMIM:618437
HP:0025373	Interictal EEG abnormality	22906	TRAK1	ORPHA:442835
HP:0025373	Interictal EEG abnormality	7532	YWHAG	ORPHA:442835
HP:0025373	Interictal EEG abnormality	79876	UBA5	ORPHA:442835
HP:0025373	Interictal EEG abnormality	774	CACNA1B	ORPHA:442835
HP:0025373	Interictal EEG abnormality	2290	FOXG1	ORPHA:442835
HP:0025373	Interictal EEG abnormality	6506	SLC1A2	ORPHA:442835
HP:0025373	Interictal EEG abnormality	6506	SLC1A2	OMIM:617105
HP:0025373	Interictal EEG abnormality	284111	SLC13A5	ORPHA:442835
HP:0025373	Interictal EEG abnormality	79947	DHDDS	ORPHA:442835
HP:0025373	Interictal EEG abnormality	55361	PI4K2A	OMIM:620732
HP:0025373	Interictal EEG abnormality	26040	SETBP1	OMIM:269150
HP:0025373	Interictal EEG abnormality	26040	SETBP1	ORPHA:798
HP:0025373	Interictal EEG abnormality	149371	EXOC8	OMIM:619076
HP:0025373	Interictal EEG abnormality	4567	MT-TL1	ORPHA:324525
HP:0025373	Interictal EEG abnormality	55699	IARS2	OMIM:616007
HP:0025373	Interictal EEG abnormality	92609	TIMM50	OMIM:617698
HP:0025373	Interictal EEG abnormality	92609	TIMM50	ORPHA:505216
HP:0025373	Interictal EEG abnormality	8452	CUL3	OMIM:619239
HP:0025373	Interictal EEG abnormality	116115	ZNF526	OMIM:619877
HP:0025373	Interictal EEG abnormality	538	ATP7A	OMIM:309400
HP:0025373	Interictal EEG abnormality	378884	NHLRC1	ORPHA:501
HP:0025373	Interictal EEG abnormality	7957	EPM2A	ORPHA:501
HP:0025373	Interictal EEG abnormality	85365	ALG2	ORPHA:79326
HP:0025373	Interictal EEG abnormality	85365	ALG2	OMIM:607906
HP:0025373	Interictal EEG abnormality	4247	MGAT2	ORPHA:79329
HP:0025373	Interictal EEG abnormality	728294	D2HGDH	OMIM:600721
HP:0025373	Interictal EEG abnormality	2571	GAD1	OMIM:619124
HP:0025373	Interictal EEG abnormality	60558	GUF1	OMIM:617065
HP:0025373	Interictal EEG abnormality	60558	GUF1	ORPHA:3451
HP:0025373	Interictal EEG abnormality	51124	IER3IP1	OMIM:614231
HP:0025373	Interictal EEG abnormality	26227	PHGDH	OMIM:601815
HP:0025373	Interictal EEG abnormality	7358	UGDH	OMIM:618792
HP:0025373	Interictal EEG abnormality	56947	MFF	ORPHA:485421
HP:0025373	Interictal EEG abnormality	56947	MFF	OMIM:617086
HP:0025373	Interictal EEG abnormality	2904	GRIN2B	OMIM:616139
HP:0025373	Interictal EEG abnormality	2904	GRIN2B	ORPHA:3451
HP:0025373	Interictal EEG abnormality	4190	MDH1	OMIM:618959
HP:0025373	Interictal EEG abnormality	9373	PLAA	ORPHA:521426
HP:0025373	Interictal EEG abnormality	55704	CCDC88A	OMIM:617507
HP:0025373	Interictal EEG abnormality	10297	APC2	OMIM:618677
HP:0025373	Interictal EEG abnormality	9440	MED17	OMIM:613668
HP:0025373	Interictal EEG abnormality	221692	PHACTR1	ORPHA:3451
HP:0025373	Interictal EEG abnormality	221692	PHACTR1	OMIM:618298
HP:0025373	Interictal EEG abnormality	10695	CNPY3	ORPHA:3451
HP:0025373	Interictal EEG abnormality	10695	CNPY3	OMIM:617929
HP:0025373	Interictal EEG abnormality	11152	WDR45	ORPHA:3451
HP:0025373	Interictal EEG abnormality	10681	GNB5	ORPHA:542306
HP:0025373	Interictal EEG abnormality	55739	NAXD	OMIM:618321
HP:0025373	Interictal EEG abnormality	284098	PIGW	OMIM:616025
HP:0025373	Interictal EEG abnormality	440	ASNS	OMIM:615574
HP:0025373	Interictal EEG abnormality	777	CACNA1E	OMIM:618285
HP:0025373	Interictal EEG abnormality	79718	TBL1XR1	OMIM:616944
HP:0025373	Interictal EEG abnormality	51294	PCDH12	OMIM:251280
HP:0025373	Interictal EEG abnormality	64116	SLC39A8	ORPHA:468699
HP:0025373	Interictal EEG abnormality	5048	PAFAH1B1	ORPHA:95232
HP:0025373	Interictal EEG abnormality	6509	SLC1A4	ORPHA:447997
HP:0025373	Interictal EEG abnormality	2801	GOLGA2	OMIM:620240
HP:0025373	Interictal EEG abnormality	10195	ALG3	OMIM:601110
HP:0025373	Interictal EEG abnormality	51733	UPB1	OMIM:613161
HP:0025373	Interictal EEG abnormality	7040	TGFB1	OMIM:618213
HP:0025373	Interictal EEG abnormality	1496	CTNNA2	OMIM:618174
HP:0025373	Interictal EEG abnormality	55753	OGDHL	OMIM:619701
HP:0025373	Interictal EEG abnormality	3736	KCNA1	ORPHA:1934
HP:0025373	Interictal EEG abnormality	9091	PIGQ	ORPHA:1934
HP:0025373	Interictal EEG abnormality	140679	SLC32A1	ORPHA:1934
HP:0025373	Interictal EEG abnormality	2902	GRIN1	ORPHA:1934
HP:0025373	Interictal EEG abnormality	8573	CASK	ORPHA:1934
HP:0025373	Interictal EEG abnormality	23312	DMXL2	ORPHA:1934
HP:0025373	Interictal EEG abnormality	11284	PNKP	ORPHA:1934
HP:0025373	Interictal EEG abnormality	90952	ESAM	OMIM:620371
HP:0025373	Interictal EEG abnormality	443	ASPA	OMIM:271900
HP:0025373	Interictal EEG abnormality	2775	GNAO1	OMIM:617493
HP:0025373	Interictal EEG abnormality	51604	PIGT	OMIM:615398
HP:0025373	Interictal EEG abnormality	51604	PIGT	ORPHA:369837
HP:0025373	Interictal EEG abnormality	8913	CACNA1G	OMIM:618087
HP:0025373	Interictal EEG abnormality	8218	CLTCL1	ORPHA:453510
HP:0025373	Interictal EEG abnormality	6711	SPTBN1	OMIM:619475
HP:0025373	Interictal EEG abnormality	5530	PPP3CA	OMIM:617711
HP:0025373	Interictal EEG abnormality	51227	PIGP	OMIM:617599
HP:0025373	Interictal EEG abnormality	132	ADK	OMIM:614300
HP:0025373	Interictal EEG abnormality	51412	ACTL6B	OMIM:618468
HP:0025373	Interictal EEG abnormality	85440	DOCK7	ORPHA:411986
HP:0025373	Interictal EEG abnormality	57468	SLC12A5	ORPHA:293181
HP:0025373	Interictal EEG abnormality	23236	PLCB1	ORPHA:293181
HP:0025373	Interictal EEG abnormality	5277	PIGA	ORPHA:293181
HP:0025373	Interictal EEG abnormality	79751	SLC25A22	ORPHA:293181
HP:0025373	Interictal EEG abnormality	6709	SPTAN1	OMIM:620540
HP:0025373	Interictal EEG abnormality	22845	DOLK	ORPHA:91131
HP:0025373	Interictal EEG abnormality	23389	MED13L	ORPHA:369891
HP:0025373	Interictal EEG abnormality	10128	LRPPRC	ORPHA:70472
HP:0025373	Interictal EEG abnormality	6821	SUOX	OMIM:272300
HP:0025373	Interictal EEG abnormality	4615	MYD88	ORPHA:33226
HP:0025373	Interictal EEG abnormality	6792	CDKL5	ORPHA:505652
HP:0025373	Interictal EEG abnormality	3778	KCNMA1	OMIM:618596
HP:0025373	Interictal EEG abnormality	4204	MECP2	ORPHA:209370
HP:0025373	Interictal EEG abnormality	1468	SLC25A10	OMIM:618972
HP:0025373	Interictal EEG abnormality	79587	CARS2	OMIM:616672
HP:0025373	Interictal EEG abnormality	2257	FGF12	OMIM:617166
HP:0025373	Interictal EEG abnormality	1806	DPYD	ORPHA:1675
HP:0025373	Interictal EEG abnormality	478	ATP1A3	OMIM:619606
HP:0025373	Interictal EEG abnormality	7280	TUBB2A	OMIM:615763
HP:0025373	Interictal EEG abnormality	10565	ARFGEF1	OMIM:619964
HP:0025373	Interictal EEG abnormality	6304	SATB1	OMIM:619229
HP:0025373	Interictal EEG abnormality	9568	GABBR2	OMIM:617904
HP:0025373	Interictal EEG abnormality	56052	ALG1	OMIM:608540
HP:0025373	Interictal EEG abnormality	8869	ST3GAL5	OMIM:609056
HP:0025373	Interictal EEG abnormality	8912	CACNA1H	ORPHA:64280
HP:0025373	Interictal EEG abnormality	5621	PRNP	ORPHA:466
HP:0025373	Interictal EEG abnormality	84992	PIGY	ORPHA:247262
HP:0025373	Interictal EEG abnormality	84720	PIGO	ORPHA:247262
HP:0025373	Interictal EEG abnormality	93210	PGAP3	ORPHA:247262
HP:0025373	Interictal EEG abnormality	27315	PGAP2	ORPHA:247262
HP:0025373	Interictal EEG abnormality	55650	PIGV	ORPHA:247262
HP:0025373	Interictal EEG abnormality	9487	PIGL	ORPHA:247262
HP:0025373	Interictal EEG abnormality	10157	AASS	ORPHA:2203
HP:0025373	Interictal EEG abnormality	785	CACNB4	OMIM:613855
HP:0025373	Interictal EEG abnormality	785	CACNB4	OMIM:607682
HP:0025373	Interictal EEG abnormality	57094	CPA6	OMIM:614417
HP:0025373	Interictal EEG abnormality	112755	STX1B	ORPHA:36387
HP:0025373	Interictal EEG abnormality	2563	GABRD	ORPHA:36387
HP:0025373	Interictal EEG abnormality	84059	ADGRV1	ORPHA:36387
HP:0025373	Interictal EEG abnormality	51422	PRKAG2	OMIM:261740
HP:0025373	Interictal EEG abnormality	94005	PIGS	OMIM:618143
HP:0025373	Interictal EEG abnormality	8818	DPM2	ORPHA:329178
HP:0025373	Interictal EEG abnormality	57176	VARS2	OMIM:615917
HP:0025373	Interictal EEG abnormality	7707	ZNF148	OMIM:617260
HP:0025373	Interictal EEG abnormality	1785	DNM2	OMIM:615368
HP:0025373	Interictal EEG abnormality	55163	PNPO	ORPHA:79096
HP:0025373	Interictal EEG abnormality	275	AMT	OMIM:620398
HP:0025373	Interictal EEG abnormality	1020	CDK5	OMIM:616342
HP:0025373	Interictal EEG abnormality	708	C1QBP	OMIM:617713
HP:0025373	Interictal EEG abnormality	2744	GLS	OMIM:618328
HP:0025373	Interictal EEG abnormality	7841	MOGS	OMIM:606056
HP:0025373	Interictal EEG abnormality	91137	SLC25A46	OMIM:619303
HP:0025373	Interictal EEG abnormality	18	ABAT	OMIM:613163
HP:0025373	Interictal EEG abnormality	4905	NSF	OMIM:619340
HP:0025373	Interictal EEG abnormality	51117	COQ4	OMIM:616276
HP:0025373	Interictal EEG abnormality	221927	BRAT1	OMIM:614498
HP:0025373	Interictal EEG abnormality	26960	NBEA	OMIM:619157
HP:0025373	Interictal EEG abnormality	2892	GRIA3	OMIM:300699
HP:0025373	Interictal EEG abnormality	104	ADARB1	OMIM:618862
HP:0025373	Interictal EEG abnormality	284058	KANSL1	ORPHA:363958
HP:0025373	Interictal EEG abnormality	284058	KANSL1	ORPHA:363965
HP:0025373	Interictal EEG abnormality	92335	STRADA	ORPHA:500533
HP:0025373	Interictal EEG abnormality	2890	GRIA1	OMIM:619931
HP:0025373	Interictal EEG abnormality	2917	GRM7	OMIM:618922
HP:0025373	Interictal EEG abnormality	25977	NECAP1	OMIM:615833
HP:0025373	Interictal EEG abnormality	23732	FRRS1L	ORPHA:725
HP:0025373	Interictal EEG abnormality	10295	BCKDK	OMIM:614923
HP:0025373	Interictal EEG abnormality	9570	GOSR2	OMIM:620166
HP:0025373	Interictal EEG abnormality	84081	NSRP1	OMIM:620001
HP:0025373	Interictal EEG abnormality	6335	SCN9A	ORPHA:33069
HP:0025373	Interictal EEG abnormality	2554	GABRA1	ORPHA:33069
HP:0025373	Interictal EEG abnormality	6323	SCN1A	ORPHA:33069
HP:0025373	Interictal EEG abnormality	6323	SCN1A	ORPHA:1942
HP:0025373	Interictal EEG abnormality	6324	SCN1B	ORPHA:33069
HP:0025373	Interictal EEG abnormality	57526	PCDH19	ORPHA:33069
HP:0025373	Interictal EEG abnormality	2566	GABRG2	ORPHA:33069
HP:0025373	Interictal EEG abnormality	6513	SLC2A1	ORPHA:1942
HP:0025373	Interictal EEG abnormality	8831	SYNGAP1	ORPHA:1942
HP:0025373	Interictal EEG abnormality	1173	AP2M1	ORPHA:1942
HP:0025373	Interictal EEG abnormality	340533	NEXMIF	ORPHA:1942
HP:0025373	Interictal EEG abnormality	1106	CHD2	ORPHA:1942
HP:0025373	Interictal EEG abnormality	6529	SLC6A1	ORPHA:1942
HP:0025373	Interictal EEG abnormality	26047	CNTNAP2	ORPHA:163681
HP:0025373	Interictal EEG abnormality	815	CAMK2A	OMIM:618095
HP:0025373	Interictal EEG abnormality	1137	CHRNA4	ORPHA:98784
HP:0025373	Interictal EEG abnormality	1135	CHRNA2	ORPHA:98784
HP:0025373	Interictal EEG abnormality	57010	CABP4	ORPHA:98784
HP:0025373	Interictal EEG abnormality	1141	CHRNB2	ORPHA:98784
HP:0025373	Interictal EEG abnormality	57582	KCNT1	ORPHA:98784
HP:0025373	Interictal EEG abnormality	57582	KCNT1	OMIM:614959
HP:0025373	Interictal EEG abnormality	1392	CRH	ORPHA:98784
HP:0025373	Interictal EEG abnormality	10479	SLC9A6	OMIM:300243
HP:0025373	Interictal EEG abnormality	5649	RELN	ORPHA:101046
HP:0025373	Interictal EEG abnormality	9211	LGI1	ORPHA:101046
HP:0025373	Interictal EEG abnormality	6833	ABCC8	OMIM:618857
HP:0025373	Interictal EEG abnormality	10844	TUBGCP2	OMIM:618737
HP:0025373	Interictal EEG abnormality	6900	CNTN2	OMIM:615400
HP:0025373	Interictal EEG abnormality	7407	VARS1	OMIM:617802
HP:0025373	Interictal EEG abnormality	1476	CSTB	OMIM:254800
HP:0025373	Interictal EEG abnormality	9990	SLC12A6	OMIM:218000
HP:0025373	Interictal EEG abnormality	4131	MAP1B	OMIM:618918
HP:0025373	Interictal EEG abnormality	154881	KCTD7	ORPHA:263516
HP:0025373	Interictal EEG abnormality	7337	UBE3A	ORPHA:98795
HP:0025373	Interictal EEG abnormality	6812	STXBP1	ORPHA:599373
HP:0025373	Interictal EEG abnormality	54681	P4HTM	OMIM:618493
HP:0025373	Interictal EEG abnormality	7355	SLC35A2	ORPHA:356961
HP:0025373	Interictal EEG abnormality	5631	PRPS1	ORPHA:1187
HP:0025373	Interictal EEG abnormality	54872	PIGG	ORPHA:488635
HP:0025373	Interictal EEG abnormality	54872	PIGG	OMIM:616917
HP:0025373	Interictal EEG abnormality	1183	CLCN4	ORPHA:485350
HP:0025373	Interictal EEG abnormality	9361	LONP1	ORPHA:79243
HP:0025373	Interictal EEG abnormality	5160	PDHA1	ORPHA:79243
HP:0025373	Interictal EEG abnormality	1759	DNM1	ORPHA:2382
HP:0025373	Interictal EEG abnormality	2562	GABRB3	ORPHA:2382
HP:0025373	Interictal EEG abnormality	5602	MAPK10	ORPHA:2382
HP:0025373	Interictal EEG abnormality	773	CACNA1A	ORPHA:2382
HP:0025373	Interictal EEG abnormality	23316	CUX2	ORPHA:2382
HP:0025373	Interictal EEG abnormality	283987	HID1	OMIM:619983
HP:0025373	Interictal EEG abnormality	10730	YME1L1	OMIM:617302
HP:0025373	Interictal EEG abnormality	29968	PSAT1	ORPHA:284417
HP:0025373	Interictal EEG abnormality	6857	SYT1	ORPHA:522077
HP:0025373	Interictal EEG abnormality	477	ATP1A2	ORPHA:569
HP:0025373	Interictal EEG abnormality	1605	DAG1	ORPHA:370997
HP:0025373	Interictal EEG abnormality	25814	ATXN10	ORPHA:98761
HP:0025373	Interictal EEG abnormality	2746	GLUD1	ORPHA:35878
HP:0025373	Interictal EEG abnormality	23102	TBC1D2B	OMIM:619323
HP:0025373	Interictal EEG abnormality	3746	KCNC1	OMIM:616187
HP:0025373	Interictal EEG abnormality	2782	GNB1	ORPHA:488613
HP:0025373	Interictal EEG abnormality	2782	GNB1	OMIM:616973
HP:0025373	Interictal EEG abnormality	440138	ALG11	OMIM:613661
HP:0025373	Interictal EEG abnormality	55367	PIDD1	OMIM:619827
HP:0025373	Interictal EEG abnormality	93627	TBCK	ORPHA:488632
HP:0025373	Interictal EEG abnormality	2055	CLN8	ORPHA:1947
HP:0025373	Interictal EEG abnormality	501	ALDH7A1	ORPHA:3006
HP:0025373	Interictal EEG abnormality	11212	PLPBP	ORPHA:3006
HP:0025373	Interictal EEG abnormality	8659	ALDH4A1	ORPHA:79101
HP:0025373	Interictal EEG abnormality	114327	EFHC1	OMIM:254770
HP:0025373	Interictal EEG abnormality	2896	GRN	OMIM:614706
HP:0025373	Interictal EEG abnormality	7030	TFE3	OMIM:301066
HP:0025373	Interictal EEG abnormality	9289	ADGRG1	ORPHA:98889
HP:0025373	Interictal EEG abnormality	5297	PI4KA	ORPHA:98889
HP:0025373	Interictal EEG abnormality	23229	ARHGEF9	ORPHA:163985
HP:0025373	Interictal EEG abnormality	23096	IQSEC2	ORPHA:217377
HP:0025373	Interictal EEG abnormality	22	ABCB7	OMIM:301310
HP:0025373	Interictal EEG abnormality	2903	GRIN2A	ORPHA:98818
HP:0025373	Interictal EEG abnormality	11342	RNF13	ORPHA:544503
HP:0025373	Interictal EEG abnormality	10815	CPLX1	ORPHA:352582
HP:0025373	Interictal EEG abnormality	57465	TBC1D24	ORPHA:352582
HP:0025373	Interictal EEG abnormality	5290	PIK3CA	ORPHA:99802
HP:0025373	Interictal EEG abnormality	2475	MTOR	ORPHA:99802
HP:0025373	Interictal EEG abnormality	10000	AKT3	ORPHA:99802
HP:0025373	Interictal EEG abnormality	9900	SV2A	OMIM:620772
HP:0025373	Interictal EEG abnormality	8131	NPRL3	ORPHA:98820
HP:0025373	Interictal EEG abnormality	10641	NPRL2	ORPHA:98820
HP:0025373	Interictal EEG abnormality	9681	DEPDC5	ORPHA:98820
HP:0025373	Interictal EEG abnormality	22866	CNKSR2	OMIM:301008
HP:0025373	Interictal EEG abnormality	3747	KCNC2	OMIM:619913
HP:0025373	Interictal EEG abnormality	27286	SRPX2	ORPHA:163721
HP:0025373	Interictal EEG abnormality	3708	ITPR1	OMIM:117360
HP:0025373	Interictal EEG abnormality	781	CACNA2D1	OMIM:620149
HP:0025373	Interictal EEG abnormality	81603	TRIM8	OMIM:619428
HP:0025373	Interictal EEG abnormality	80036	TRPM3	OMIM:620224
HP:0025373	Interictal EEG abnormality	387787	LIPT2	OMIM:617668
HP:0025373	Interictal EEG abnormality	6134	RPL10	ORPHA:459070
HP:0025373	Interictal EEG abnormality	23067	SETD1B	OMIM:619000
HP:0025373	Interictal EEG abnormality	5428	POLG	ORPHA:254881
HP:0025376	Hyperglutaminuria	51601	LIPT1	OMIM:616299
HP:0030670	Hamartoma of the orbital region	3458	IFNG	OMIM:613254
HP:0030670	Hamartoma of the orbital region	3458	IFNG	ORPHA:805
HP:0030670	Hamartoma of the orbital region	7249	TSC2	OMIM:613254
HP:0030670	Hamartoma of the orbital region	7249	TSC2	ORPHA:805
HP:0030670	Hamartoma of the orbital region	7249	TSC2	ORPHA:538
HP:0030670	Hamartoma of the orbital region	7248	TSC1	ORPHA:805
HP:0030670	Hamartoma of the orbital region	7248	TSC1	OMIM:191100
HP:0030670	Hamartoma of the orbital region	7248	TSC1	ORPHA:538
HP:0030670	Hamartoma of the orbital region	4771	NF2	ORPHA:637
HP:0030670	Hamartoma of the orbital region	4771	NF2	OMIM:101000
HP:0030670	Hamartoma of the orbital region	207	AKT1	ORPHA:744
HP:0030670	Hamartoma of the orbital region	7428	VHL	ORPHA:892
HP:0030670	Hamartoma of the orbital region	7428	VHL	ORPHA:29072
HP:0030670	Hamartoma of the orbital region	7428	VHL	OMIM:193300
HP:0030670	Hamartoma of the orbital region	595	CCND1	ORPHA:892
HP:0030670	Hamartoma of the orbital region	595	CCND1	OMIM:193300
HP:0030670	Hamartoma of the orbital region	1743	DLST	ORPHA:29072
HP:0030670	Hamartoma of the orbital region	4191	MDH2	ORPHA:29072
HP:0030670	Hamartoma of the orbital region	5979	RET	ORPHA:29072
HP:0030670	Hamartoma of the orbital region	6389	SDHA	ORPHA:29072
HP:0030670	Hamartoma of the orbital region	23095	KIF1B	ORPHA:29072
HP:0030670	Hamartoma of the orbital region	2271	FH	ORPHA:29072
HP:0030670	Hamartoma of the orbital region	8402	SLC25A11	ORPHA:29072
HP:0030670	Hamartoma of the orbital region	54949	SDHAF2	ORPHA:29072
HP:0030670	Hamartoma of the orbital region	55654	TMEM127	ORPHA:29072
HP:0030670	Hamartoma of the orbital region	4149	MAX	ORPHA:29072
HP:0030670	Hamartoma of the orbital region	4763	NF1	OMIM:601321
HP:0030670	Hamartoma of the orbital region	4763	NF1	OMIM:162200
HP:0030670	Hamartoma of the orbital region	4763	NF1	OMIM:162210
HP:0030670	Hamartoma of the orbital region	4763	NF1	OMIM:193520
HP:0030670	Hamartoma of the orbital region	4763	NF1	ORPHA:363700
HP:0030670	Hamartoma of the orbital region	4763	NF1	ORPHA:97685
HP:0030670	Hamartoma of the orbital region	2956	MSH6	OMIM:619097
HP:0030670	Hamartoma of the orbital region	161742	SPRED1	ORPHA:137605
HP:0030670	Hamartoma of the orbital region	3858	KRT10	ORPHA:312
HP:0030670	Hamartoma of the orbital region	3848	KRT1	ORPHA:312
HP:0030670	Hamartoma of the orbital region	10483	SEC23B	ORPHA:201
HP:0030670	Hamartoma of the orbital region	5728	PTEN	ORPHA:201
HP:0030670	Hamartoma of the orbital region	6390	SDHB	ORPHA:201
HP:0030670	Hamartoma of the orbital region	6392	SDHD	ORPHA:201
HP:0030670	Hamartoma of the orbital region	6391	SDHC	ORPHA:201
HP:0030670	Hamartoma of the orbital region	205717	USF3	ORPHA:201
HP:0030670	Hamartoma of the orbital region	5290	PIK3CA	ORPHA:201
HP:0030670	Hamartoma of the orbital region	100144748	KLLN	ORPHA:201
HP:0025379	Anti-thyroid peroxidase antibody positivity	100	ADA	ORPHA:277
HP:0025379	Anti-thyroid peroxidase antibody positivity	139818	DOCK11	OMIM:301109
HP:0025379	Anti-thyroid peroxidase antibody positivity	51371	POMP	OMIM:618048
HP:0025379	Anti-thyroid peroxidase antibody positivity	326	AIRE	OMIM:240300
HP:0025379	Anti-thyroid peroxidase antibody positivity	4791	NFKB2	OMIM:615577
HP:0025379	Anti-thyroid peroxidase antibody positivity	7253	TSHR	OMIM:609152
HP:0025379	Anti-thyroid peroxidase antibody positivity	7068	THRB	ORPHA:566243
HP:0025379	Anti-thyroid peroxidase antibody positivity	7068	THRB	OMIM:274300
HP:0025379	Anti-thyroid peroxidase antibody positivity	50943	FOXP3	ORPHA:37042
HP:0025379	Anti-thyroid peroxidase antibody positivity	169792	GLIS3	OMIM:610199
HP:0025379	Anti-thyroid peroxidase antibody positivity	10125	RASGRP1	OMIM:618534
HP:0025379	Anti-thyroid peroxidase antibody positivity	9103	FCGR2C	ORPHA:3002
HP:0025379	Anti-thyroid peroxidase antibody positivity	83737	ITCH	ORPHA:228426
HP:0025379	Anti-thyroid peroxidase antibody positivity	4067	LYN	OMIM:620376
HP:0030676	Satyr ear	7703	PCGF2	OMIM:618371
HP:0030676	Satyr ear	6299	SALL1	OMIM:107480
HP:0030674	Antenatal onset	3651	PDX1	OMIM:260370
HP:0030674	Antenatal onset	6134	RPL10	OMIM:300998
HP:0030674	Antenatal onset	79879	CCDC134	OMIM:619795
HP:0030674	Antenatal onset	10112	KIF20A	OMIM:619433
HP:0030674	Antenatal onset	55388	MCM10	OMIM:619313
HP:0030674	Antenatal onset	5393	EXOSC9	OMIM:618065
HP:0030674	Antenatal onset	60529	ALX4	OMIM:613451
HP:0030674	Antenatal onset	4000	LMNA	OMIM:619793
HP:0030674	Antenatal onset	72	ACTG2	OMIM:619431
HP:0030674	Antenatal onset	6873	TAF2	OMIM:615599
HP:0030674	Antenatal onset	201595	STT3B	OMIM:615597
HP:0030674	Antenatal onset	5885	RAD21	OMIM:614701
HP:0030674	Antenatal onset	5396	PRRX1	OMIM:202650
HP:0030674	Antenatal onset	10785	WDR4	OMIM:618347
HP:0030674	Antenatal onset	23363	OBSL1	OMIM:612921
HP:0030674	Antenatal onset	2629	GBA1	OMIM:608013
HP:0030674	Antenatal onset	100033413	SNORD116-1	OMIM:176270
HP:0030674	Antenatal onset	8924	HERC2	OMIM:176270
HP:0030674	Antenatal onset	23742	NPAP1	OMIM:176270
HP:0030674	Antenatal onset	338433	SNORD115-1	OMIM:176270
HP:0030674	Antenatal onset	54551	MAGEL2	OMIM:176270
HP:0030674	Antenatal onset	7681	MKRN3	OMIM:176270
HP:0030674	Antenatal onset	145624	PWAR1	OMIM:176270
HP:0030674	Antenatal onset	3653	IPW	OMIM:176270
HP:0030674	Antenatal onset	791114	PWRN1	OMIM:176270
HP:0030674	Antenatal onset	117581	TWIST2	OMIM:200110
HP:0030674	Antenatal onset	9578	CDC42BPB	OMIM:619841
HP:0030674	Antenatal onset	1062	CENPE	OMIM:616051
HP:0030674	Antenatal onset	1630	DCC	OMIM:617542
HP:0030674	Antenatal onset	1855	DVL1	OMIM:616331
HP:0030674	Antenatal onset	6392	SDHD	OMIM:619167
HP:0030674	Antenatal onset	4893	NRAS	OMIM:613224
HP:0030674	Antenatal onset	84466	MEGF10	OMIM:614399
HP:0030674	Antenatal onset	477	ATP1A2	OMIM:619602
HP:0030674	Antenatal onset	5339	PLEC	OMIM:612138
HP:0030674	Antenatal onset	55033	FKBP14	OMIM:614557
HP:0030674	Antenatal onset	51259	TMEM216	OMIM:603194
HP:0030674	Antenatal onset	1161	ERCC8	OMIM:216400
HP:0030674	Antenatal onset	79158	GNPTAB	OMIM:252500
HP:0030674	Antenatal onset	145873	MESP2	OMIM:277300
HP:0030674	Antenatal onset	10683	DLL3	OMIM:277300
HP:0030674	Antenatal onset	79068	FTO	OMIM:612938
HP:0030674	Antenatal onset	64175	P3H1	OMIM:610915
HP:0030674	Antenatal onset	1146	CHRNG	OMIM:265000
HP:0030674	Antenatal onset	64324	NSD1	OMIM:117550
HP:0030674	Antenatal onset	50619	DEF6	OMIM:619573
HP:0030674	Antenatal onset	23345	SYNE1	OMIM:618484
HP:0030674	Antenatal onset	7468	NSD2	OMIM:619695
HP:0030674	Antenatal onset	11274	USP18	OMIM:617397
HP:0030674	Antenatal onset	10606	PAICS	OMIM:619859
HP:0030674	Antenatal onset	1147	CHUK	OMIM:613630
HP:0030674	Antenatal onset	6499	SKIC2	OMIM:614602
HP:0030674	Antenatal onset	64131	XYLT1	OMIM:615777
HP:0030674	Antenatal onset	23116	TOGARAM1	OMIM:619185
HP:0030674	Antenatal onset	6045	RNF2	OMIM:619460
HP:0030674	Antenatal onset	6557	SLC12A1	OMIM:601678
HP:0030674	Antenatal onset	57498	KIDINS220	OMIM:619501
HP:0030674	Antenatal onset	57498	KIDINS220	OMIM:617296
HP:0030674	Antenatal onset	127833	SYT2	OMIM:619461
HP:0030674	Antenatal onset	5277	PIGA	OMIM:300868
HP:0030674	Antenatal onset	80776	B9D2	OMIM:614175
HP:0030674	Antenatal onset	6885	MAP3K7	OMIM:157800
HP:0030674	Antenatal onset	8985	PLOD3	OMIM:612394
HP:0030674	Antenatal onset	55636	CHD7	OMIM:214800
HP:0030674	Antenatal onset	54872	PIGG	OMIM:616917
HP:0030674	Antenatal onset	9096	TBX18	OMIM:143400
HP:0030674	Antenatal onset	79053	ALG8	OMIM:608104
HP:0030674	Antenatal onset	26834	RNU4-2	OMIM:620851
HP:0030674	Antenatal onset	54345	SOX18	OMIM:137940
HP:0030674	Antenatal onset	23265	EXOC7	OMIM:619072
HP:0030674	Antenatal onset	51241	COX16	OMIM:619355
HP:0030674	Antenatal onset	3572	IL6ST	OMIM:619751
HP:0030674	Antenatal onset	9851	KIAA0753	OMIM:619479
HP:0030674	Antenatal onset	4629	MYH11	OMIM:619351
HP:0030674	Antenatal onset	57680	CHD8	OMIM:615032
HP:0030674	Antenatal onset	57545	CC2D2A	OMIM:612284
HP:0030674	Antenatal onset	805	CALM2	OMIM:616249
HP:0030674	Antenatal onset	284086	NEK8	OMIM:620903
HP:0030674	Antenatal onset	23443	SLC35A3	OMIM:615553
HP:0030674	Antenatal onset	51692	CPSF3	OMIM:619876
HP:0030674	Antenatal onset	116115	ZNF526	OMIM:619877
HP:0030674	Antenatal onset	10056	FARSB	OMIM:613658
HP:0030674	Antenatal onset	7168	TPM1	OMIM:611878
HP:0030674	Antenatal onset	3800	KIF5C	OMIM:615282
HP:0030674	Antenatal onset	10293	TRAIP	OMIM:616777
HP:0030674	Antenatal onset	163175	LGI4	OMIM:617468
HP:0030674	Antenatal onset	5500	PPP1CB	OMIM:617506
HP:0030674	Antenatal onset	64135	IFIH1	OMIM:615846
HP:0030674	Antenatal onset	55164	SHQ1	OMIM:619922
HP:0030674	Antenatal onset	23169	SLC35D1	OMIM:269250
HP:0030674	Antenatal onset	6663	SOX10	OMIM:609136
HP:0030674	Antenatal onset	7139	TNNT2	OMIM:601494
HP:0030674	Antenatal onset	1376	CPT2	OMIM:608836
HP:0030674	Antenatal onset	259266	ASPM	OMIM:608716
HP:0030674	Antenatal onset	23007	PLCH1	OMIM:619895
HP:0030674	Antenatal onset	11014	KDELR2	OMIM:619131
HP:0030674	Antenatal onset	5879	RAC1	OMIM:617751
HP:0030674	Antenatal onset	10463	SLC30A9	OMIM:617595
HP:0030674	Antenatal onset	374654	KIF7	OMIM:614120
HP:0030674	Antenatal onset	2193	FARSA	OMIM:619013
HP:0030674	Antenatal onset	10661	KLF1	OMIM:613673
HP:0030674	Antenatal onset	2990	GUSB	OMIM:253220
HP:0030674	Antenatal onset	2146	EZH2	OMIM:277590
HP:0030674	Antenatal onset	4087	SMAD2	OMIM:619657
HP:0030674	Antenatal onset	5557	PRIM1	OMIM:620005
HP:0030674	Antenatal onset	10269	ZMPSTE24	OMIM:275210
HP:0030674	Antenatal onset	7473	WNT3	OMIM:273395
HP:0030674	Antenatal onset	286204	CRB2	OMIM:219730
HP:0030674	Antenatal onset	7546	ZIC2	OMIM:609637
HP:0030674	Antenatal onset	6261	RYR1	OMIM:619542
HP:0030674	Antenatal onset	54903	MKS1	OMIM:617121
HP:0030674	Antenatal onset	81570	CLPB	OMIM:616271
HP:0030674	Antenatal onset	54101	RIPK4	OMIM:263650
HP:0030674	Antenatal onset	51117	COQ4	OMIM:616276
HP:0030674	Antenatal onset	57728	WDR19	OMIM:614377
HP:0030674	Antenatal onset	6654	SOS1	OMIM:610733
HP:0030674	Antenatal onset	8085	KMT2D	OMIM:147920
HP:0030674	Antenatal onset	7403	KDM6A	OMIM:147920
HP:0030674	Antenatal onset	4921	DDR2	OMIM:271665
HP:0030674	Antenatal onset	65992	DDRGK1	OMIM:602557
HP:0030674	Antenatal onset	3376	IARS1	OMIM:617093
HP:0030674	Antenatal onset	26235	FBXL4	OMIM:615471
HP:0030674	Antenatal onset	23126	POGZ	OMIM:616364
HP:0030674	Antenatal onset	5314	PKHD1	OMIM:263200
HP:0030674	Antenatal onset	340419	RSPO2	OMIM:618022
HP:0030674	Antenatal onset	100128927	ZBTB42	OMIM:616248
HP:0030674	Antenatal onset	100151683	RNU4ATAC	OMIM:210710
HP:0030674	Antenatal onset	1317	SLC31A1	OMIM:620306
HP:0030674	Antenatal onset	51126	NAA20	OMIM:619717
HP:0030674	Antenatal onset	55329	MNS1	OMIM:618948
HP:0030674	Antenatal onset	9231	DLG5	OMIM:620703
HP:0030674	Antenatal onset	347734	SLC35B2	OMIM:620269
HP:0030674	Antenatal onset	56270	WDR45B	OMIM:617977
HP:0030674	Antenatal onset	148867	SLC30A7	OMIM:620501
HP:0030674	Antenatal onset	10283	CWC27	OMIM:250410
HP:0030674	Antenatal onset	8854	ALDH1A2	OMIM:620025
HP:0030674	Antenatal onset	90459	ERI1	OMIM:620663
HP:0030674	Antenatal onset	7443	VRK1	OMIM:620542
HP:0030674	Antenatal onset	5745	PTH1R	OMIM:215045
HP:0030674	Antenatal onset	56945	MRPS22	OMIM:611719
HP:0030674	Antenatal onset	8204	NRIP1	OMIM:618270
HP:0030674	Antenatal onset	51360	MBTPS2	OMIM:301014
HP:0030674	Antenatal onset	51611	DPH5	OMIM:620070
HP:0030674	Antenatal onset	80114	BICC1	OMIM:601331
HP:0030674	Antenatal onset	91754	NEK9	OMIM:617022
HP:0030674	Antenatal onset	23395	LARS2	OMIM:617021
HP:0030674	Antenatal onset	9871	SEC24D	OMIM:616294
HP:0030674	Antenatal onset	219854	TMEM218	OMIM:619562
HP:0030674	Antenatal onset	26281	FGF20	OMIM:615721
HP:0030674	Antenatal onset	22858	CILK1	OMIM:612651
HP:0030674	Antenatal onset	6662	SOX9	OMIM:114290
HP:0030674	Antenatal onset	9562	MINPP1	OMIM:619527
HP:0030674	Antenatal onset	51163	DBR1	OMIM:620510
HP:0030674	Antenatal onset	6263	RYR3	OMIM:620310
HP:0030674	Antenatal onset	1759	DNM1	OMIM:620352
HP:0030674	Antenatal onset	3930	LBR	OMIM:215140
HP:0030674	Antenatal onset	4718	NDUFC2	OMIM:619170
HP:0030674	Antenatal onset	4001	LMNB1	OMIM:619179
HP:0030674	Antenatal onset	3190	HNRNPK	OMIM:616580
HP:0030674	Antenatal onset	4709	NDUFB3	OMIM:618246
HP:0030674	Antenatal onset	1984	EIF5A	OMIM:619376
HP:0030674	Antenatal onset	1292	COL6A2	OMIM:620727
HP:0030674	Antenatal onset	10491	CRTAP	OMIM:610682
HP:0030674	Antenatal onset	6550	SLC9A3	OMIM:616868
HP:0030674	Antenatal onset	3054	HCFC1	OMIM:309541
HP:0030674	Antenatal onset	51294	PCDH12	OMIM:251280
HP:0030674	Antenatal onset	6329	SCN4A	OMIM:620369
HP:0030674	Antenatal onset	779	CACNA1S	OMIM:620246
HP:0030674	Antenatal onset	79645	CLXN	OMIM:620642
HP:0030674	Antenatal onset	55901	THSD1	OMIM:620244
HP:0030674	Antenatal onset	54361	WNT4	OMIM:611812
HP:0030674	Antenatal onset	701	BUB1B	OMIM:257300
HP:0030674	Antenatal onset	222663	SCUBE3	OMIM:619184
HP:0030674	Antenatal onset	51626	DYNC2LI1	OMIM:617088
HP:0030674	Antenatal onset	7156	TOP3A	OMIM:618097
HP:0030674	Antenatal onset	55151	TMEM38B	OMIM:615066
HP:0030674	Antenatal onset	56603	CYP26B1	OMIM:614416
HP:0030674	Antenatal onset	2752	GLUL	OMIM:610015
HP:0030674	Antenatal onset	5908	RAP1B	OMIM:620654
HP:0030674	Antenatal onset	25939	SAMHD1	OMIM:612952
HP:0030674	Antenatal onset	8216	LZTR1	OMIM:605275
HP:0030674	Antenatal onset	5297	PI4KA	OMIM:619708
HP:0030674	Antenatal onset	90952	ESAM	OMIM:620371
HP:0030674	Antenatal onset	23129	PLXND1	OMIM:620294
HP:0030674	Antenatal onset	342035	GLDN	OMIM:617194
HP:0030674	Antenatal onset	80347	COASY	OMIM:618266
HP:0030674	Antenatal onset	51422	PRKAG2	OMIM:261740
HP:0030674	Antenatal onset	440	ASNS	OMIM:615574
HP:0030674	Antenatal onset	112	ADCY6	OMIM:616287
HP:0030674	Antenatal onset	54539	NDUFB11	OMIM:300952
HP:0030674	Antenatal onset	8506	CNTNAP1	OMIM:616286
HP:0030674	Antenatal onset	9631	NUP155	OMIM:615770
HP:0030674	Antenatal onset	5530	PPP3CA	OMIM:618265
HP:0030674	Antenatal onset	55503	TRPV6	OMIM:618188
HP:0030674	Antenatal onset	2632	GBE1	OMIM:232500
HP:0030674	Antenatal onset	9681	DEPDC5	OMIM:620504
HP:0030674	Antenatal onset	5831	PYCR1	OMIM:612940
HP:0030674	Antenatal onset	23476	BRD4	OMIM:620568
HP:0030674	Antenatal onset	8777	MPDZ	OMIM:615219
HP:0030674	Antenatal onset	6154	RPL26	OMIM:614900
HP:0030674	Antenatal onset	57211	ADGRG6	OMIM:616503
HP:0030674	Antenatal onset	9757	KMT2B	OMIM:619934
HP:0030674	Antenatal onset	51343	FZR1	OMIM:620145
HP:0030674	Antenatal onset	54675	CRLS1	OMIM:620167
HP:0030674	Antenatal onset	23299	BICD2	OMIM:618291
HP:0030674	Antenatal onset	57538	ALPK3	OMIM:618052
HP:0030674	Antenatal onset	9401	RECQL4	OMIM:218600
HP:0030674	Antenatal onset	197131	UBR1	OMIM:243800
HP:0030674	Antenatal onset	2077	ERF	OMIM:617180
HP:0030674	Antenatal onset	7547	ZIC3	OMIM:314390
HP:0030674	Antenatal onset	2187	FANCB	OMIM:314390
HP:0030674	Antenatal onset	64121	RRAGC	OMIM:620609
HP:0030674	Antenatal onset	133686	NADK2	OMIM:616034
HP:0030674	Antenatal onset	6616	SNAP25	OMIM:616330
HP:0030674	Antenatal onset	6389	SDHA	OMIM:613642
HP:0030674	Antenatal onset	8792	TNFRSF11A	OMIM:602080
HP:0030674	Antenatal onset	84197	POMK	OMIM:615249
HP:0030674	Antenatal onset	5340	PLG	OMIM:217090
HP:0030674	Antenatal onset	29969	MDFIC	OMIM:620014
HP:0030674	Antenatal onset	871	SERPINH1	OMIM:613848
HP:0030674	Antenatal onset	9837	GINS1	OMIM:617827
HP:0030674	Antenatal onset	56052	ALG1	OMIM:608540
HP:0030674	Antenatal onset	2261	FGFR3	OMIM:187601
HP:0030674	Antenatal onset	3458	IFNG	OMIM:613254
HP:0030674	Antenatal onset	7249	TSC2	OMIM:613254
HP:0030674	Antenatal onset	6091	ROBO1	OMIM:620305
HP:0030674	Antenatal onset	79770	TXNDC15	OMIM:619879
HP:0030674	Antenatal onset	64220	STRA6	OMIM:601186
HP:0030674	Antenatal onset	6331	SCN5A	OMIM:603830
HP:0030674	Antenatal onset	26576	SRPK3	OMIM:301134
HP:0030674	Antenatal onset	4927	NUP88	OMIM:618393
HP:0030674	Antenatal onset	2073	ERCC5	OMIM:616570
HP:0030674	Antenatal onset	11041	B4GAT1	OMIM:615287
HP:0030674	Antenatal onset	25802	LMOD1	OMIM:619362
HP:0030674	Antenatal onset	23426	GRIP1	OMIM:617667
HP:0030674	Antenatal onset	9928	KIF14	OMIM:616258
HP:0030674	Antenatal onset	9928	KIF14	OMIM:617914
HP:0030674	Antenatal onset	2674	GFRA1	OMIM:619887
HP:0030674	Antenatal onset	58	ACTA1	OMIM:620278
HP:0030674	Antenatal onset	60386	SLC25A19	OMIM:607196
HP:0030674	Antenatal onset	745	MYRF	OMIM:618280
HP:0030674	Antenatal onset	2271	FH	OMIM:606812
HP:0030674	Antenatal onset	9321	TRIP11	OMIM:200600
HP:0030674	Antenatal onset	83871	RAB34	OMIM:620718
HP:0030674	Antenatal onset	440193	CCDC88C	OMIM:236600
HP:0030674	Antenatal onset	90993	CREB3L1	OMIM:616229
HP:0030674	Antenatal onset	5479	PPIB	OMIM:259440
HP:0030674	Antenatal onset	7490	WT1	OMIM:194080
HP:0030674	Antenatal onset	6910	TBX5	OMIM:142900
HP:0030674	Antenatal onset	3897	L1CAM	OMIM:304100
HP:0030674	Antenatal onset	1280	COL2A1	OMIM:200610
HP:0030674	Antenatal onset	6023	RMRP	OMIM:607095
HP:0030674	Antenatal onset	26123	TCTN3	OMIM:614815
HP:0030674	Antenatal onset	25942	SIN3A	OMIM:613406
HP:0030674	Antenatal onset	4713	NDUFB7	OMIM:620135
HP:0030674	Antenatal onset	6862	TBXT	OMIM:615709
HP:0030674	Antenatal onset	168667	BMPER	OMIM:608022
HP:0030674	Antenatal onset	6309	SC5D	OMIM:607330
HP:0030674	Antenatal onset	27077	B9D1	OMIM:614209
HP:0030674	Antenatal onset	84342	COG8	OMIM:611182
HP:0030674	Antenatal onset	57688	ZSWIM6	OMIM:603671
HP:0030672	Asteroid hyalosis	1280	COL2A1	OMIM:132450
HP:0030672	Asteroid hyalosis	403	ARL3	OMIM:618173
HP:0030672	Asteroid hyalosis	10594	PRPF8	OMIM:600059
HP:0030672	Asteroid hyalosis	57096	RPGRIP1	OMIM:613826
HP:0000349	Widow's peak	2245	FGD1	OMIM:305400
HP:0000349	Widow's peak	1947	EFNB1	OMIM:304110
HP:0000349	Widow's peak	1947	EFNB1	ORPHA:1520
HP:0000349	Widow's peak	8092	ALX1	ORPHA:306542
HP:0000349	Widow's peak	253738	EBF3	ORPHA:96148
HP:0000349	Widow's peak	55343	SLC35C1	OMIM:266265
HP:0000349	Widow's peak	55027	HEATR3	OMIM:620072
HP:0000349	Widow's peak	257	ALX3	OMIM:136760
HP:0000349	Widow's peak	257	ALX3	ORPHA:391474
HP:0000349	Widow's peak	4281	MID1	OMIM:300000
HP:0000349	Widow's peak	4281	MID1	ORPHA:2745
HP:0000349	Widow's peak	6857	SYT1	ORPHA:522077
HP:0000349	Widow's peak	10220	GDF11	OMIM:619122
HP:0000349	Widow's peak	473	RERE	OMIM:616975
HP:0000349	Widow's peak	526	ATP6V1B2	OMIM:616455
HP:0000349	Widow's peak	23384	SPECC1L	OMIM:145420
HP:0000349	Widow's peak	23384	SPECC1L	ORPHA:1519
HP:0000349	Widow's peak	22907	DHX30	OMIM:617804
HP:0000349	Widow's peak	6304	SATB1	OMIM:619229
HP:0000349	Widow's peak	4036	LRP2	ORPHA:2143
HP:0000349	Widow's peak	7291	TWIST1	OMIM:617746
HP:0000349	Widow's peak	10522	DEAF1	OMIM:615828
HP:0000349	Widow's peak	2316	FLNA	OMIM:304120
HP:0004554	Generalized hypertrichosis	10847	SRCAP	OMIM:136140
HP:0004554	Generalized hypertrichosis	526	ATP6V1B2	ORPHA:3473
HP:0004554	Generalized hypertrichosis	3756	KCNH1	ORPHA:3473
HP:0004554	Generalized hypertrichosis	3782	KCNN3	ORPHA:3473
HP:0004554	Generalized hypertrichosis	26040	SETBP1	ORPHA:798
HP:0004554	Generalized hypertrichosis	4758	NEU1	ORPHA:93399
HP:0004554	Generalized hypertrichosis	4758	NEU1	ORPHA:93400
HP:0004554	Generalized hypertrichosis	4297	KMT2A	OMIM:605130
HP:0004540	Congenital, generalized hypertrichosis	4297	KMT2A	ORPHA:319182
HP:0004540	Congenital, generalized hypertrichosis	23461	ABCA5	OMIM:135400
HP:0004540	Congenital, generalized hypertrichosis	10060	ABCC9	OMIM:239850
HP:0002221	Absent axillary hair	10804	GJB6	ORPHA:189
HP:0002221	Absent axillary hair	10804	GJB6	OMIM:129500
HP:0002221	Absent axillary hair	26137	ZBTB20	OMIM:259050
HP:0002221	Absent axillary hair	4047	LSS	OMIM:618275
HP:0002221	Absent axillary hair	348	APOE	OMIM:269600
HP:0002221	Absent axillary hair	3691	ITGB4	OMIM:619816
HP:0002221	Absent axillary hair	55012	PPP2R3C	OMIM:618419
HP:0002221	Absent axillary hair	6635	SNRPE	OMIM:615059
HP:0002221	Absent axillary hair	79574	EPS8L3	OMIM:612841
HP:0002221	Absent axillary hair	2706	GJB2	OMIM:148210
HP:0002221	Absent axillary hair	55806	HR	OMIM:203655
HP:0002221	Absent axillary hair	367	AR	ORPHA:99429
HP:0002221	Absent axillary hair	1586	CYP17A1	ORPHA:90793
HP:0002221	Absent axillary hair	6926	TBX3	ORPHA:3138
HP:0002298	Absent hair	8626	TP63	OMIM:106260
HP:0002298	Absent hair	6949	TCOF1	OMIM:154500
HP:0002298	Absent hair	6949	TCOF1	ORPHA:861
HP:0002298	Absent hair	4035	LRP1	OMIM:604093
HP:0002298	Absent hair	2255	FGF10	OMIM:620193
HP:0002298	Absent hair	84172	POLR1B	ORPHA:861
HP:0002298	Absent hair	9533	POLR1C	ORPHA:861
HP:0002298	Absent hair	51082	POLR1D	ORPHA:861
HP:0002298	Absent hair	26227	PHGDH	OMIM:256520
HP:0002298	Absent hair	10804	GJB6	ORPHA:189
HP:0002298	Absent hair	10804	GJB6	OMIM:129500
HP:0002298	Absent hair	26137	ZBTB20	OMIM:259050
HP:0002298	Absent hair	4047	LSS	OMIM:618275
HP:0002298	Absent hair	348	APOE	OMIM:269600
HP:0002298	Absent hair	3691	ITGB4	OMIM:619816
HP:0002298	Absent hair	55012	PPP2R3C	OMIM:618419
HP:0002298	Absent hair	6635	SNRPE	OMIM:615059
HP:0002298	Absent hair	79574	EPS8L3	OMIM:612841
HP:0002298	Absent hair	2706	GJB2	OMIM:148210
HP:0002298	Absent hair	55806	HR	OMIM:203655
HP:0002298	Absent hair	367	AR	ORPHA:99429
HP:0002298	Absent hair	1586	CYP17A1	ORPHA:90793
HP:0002298	Absent hair	6926	TBX3	ORPHA:3138
HP:0002298	Absent hair	54345	SOX18	OMIM:137940
HP:0002298	Absent hair	54345	SOX18	ORPHA:69735
HP:0002298	Absent hair	54345	SOX18	OMIM:607823
HP:0002298	Absent hair	5317	PKP1	OMIM:604536
HP:0002298	Absent hair	4953	ODC1	OMIM:619075
HP:0002298	Absent hair	4953	ODC1	ORPHA:544488
HP:0002298	Absent hair	8313	AXIN2	OMIM:608615
HP:0002298	Absent hair	3845	KRAS	OMIM:615278
HP:0002298	Absent hair	673	BRAF	OMIM:115150
HP:0002298	Absent hair	8092	ALX1	OMIM:613456
HP:0002298	Absent hair	64682	ANAPC1	OMIM:618625
HP:0002298	Absent hair	10283	CWC27	OMIM:250410
HP:0002298	Absent hair	10283	CWC27	ORPHA:166035
HP:0002298	Absent hair	11128	POLR3A	OMIM:264090
HP:0002298	Absent hair	80144	FRAS1	OMIM:219000
HP:0002298	Absent hair	3891	KRT85	OMIM:602032
HP:0002298	Absent hair	9401	RECQL4	OMIM:268400
HP:0002298	Absent hair	4000	LMNA	ORPHA:740
HP:0002298	Absent hair	4000	LMNA	ORPHA:363618
HP:0002298	Absent hair	10269	ZMPSTE24	ORPHA:740
HP:0002298	Absent hair	51360	MBTPS2	OMIM:308205
HP:0002298	Absent hair	51360	MBTPS2	ORPHA:2273
HP:0002298	Absent hair	5605	MAP2K2	OMIM:615280
HP:0002298	Absent hair	117581	TWIST2	OMIM:200110
HP:0002298	Absent hair	117581	TWIST2	ORPHA:920
HP:0002298	Absent hair	84946	LTV1	OMIM:620199
HP:0002298	Absent hair	1896	EDA	OMIM:305100
HP:0002298	Absent hair	7390	UROS	OMIM:263700
HP:0002298	Absent hair	5297	PI4KA	ORPHA:436252
HP:0002298	Absent hair	57217	TTC7A	ORPHA:436252
HP:0002298	Absent hair	6595	SMARCA2	OMIM:601358
HP:0002298	Absent hair	54101	RIPK4	OMIM:263650
HP:0002298	Absent hair	267010	RNU12	ORPHA:85199
HP:0002298	Absent hair	89910	UBE3B	ORPHA:2707
HP:0002298	Absent hair	1001	CDH3	ORPHA:1897
HP:0002298	Absent hair	128178	EDARADD	OMIM:614940
HP:0002298	Absent hair	2697	GJA1	ORPHA:1010
HP:0002298	Absent hair	3229	HOXC13	OMIM:614931
HP:0002298	Absent hair	1832	DSP	ORPHA:158687
HP:0002298	Absent hair	3728	JUP	ORPHA:158687
HP:0002298	Absent hair	1041	CDSN	ORPHA:90368
HP:0002298	Absent hair	121391	KRT74	ORPHA:90368
HP:0002298	Absent hair	81607	NECTIN4	OMIM:613573
HP:0002298	Absent hair	2796	GNRH1	OMIM:614841
HP:0002298	Absent hair	2516	NR5A1	OMIM:612964
HP:0002298	Absent hair	5965	RECQL	OMIM:620370
HP:0002298	Absent hair	10262	SF3B4	OMIM:154400
HP:0000574	Thick eyebrow	8243	SMC1A	OMIM:300590
HP:0000574	Thick eyebrow	8243	SMC1A	ORPHA:199
HP:0000574	Thick eyebrow	9131	AIFM1	OMIM:300232
HP:0000574	Thick eyebrow	26235	FBXL4	OMIM:615471
HP:0000574	Thick eyebrow	8367	H4C5	OMIM:619950
HP:0000574	Thick eyebrow	9853	RUSC2	OMIM:617773
HP:0000574	Thick eyebrow	26128	KIFBP	OMIM:609460
HP:0000574	Thick eyebrow	6228	RPS23	OMIM:617412
HP:0000574	Thick eyebrow	5885	RAD21	OMIM:614701
HP:0000574	Thick eyebrow	5885	RAD21	ORPHA:199
HP:0000574	Thick eyebrow	5885	RAD21	ORPHA:502
HP:0000574	Thick eyebrow	9820	CUL7	ORPHA:2616
HP:0000574	Thick eyebrow	9820	CUL7	OMIM:273750
HP:0000574	Thick eyebrow	23363	OBSL1	ORPHA:2616
HP:0000574	Thick eyebrow	83987	CCDC8	ORPHA:2616
HP:0000574	Thick eyebrow	10973	ASCC3	OMIM:620700
HP:0000574	Thick eyebrow	4897	NRCAM	OMIM:619833
HP:0000574	Thick eyebrow	7021	TFAP2B	OMIM:169100
HP:0000574	Thick eyebrow	1788	DNMT3A	ORPHA:404443
HP:0000574	Thick eyebrow	1788	DNMT3A	OMIM:615879
HP:0000574	Thick eyebrow	10479	SLC9A6	OMIM:300243
HP:0000574	Thick eyebrow	10479	SLC9A6	ORPHA:85278
HP:0000574	Thick eyebrow	1278	COL1A2	ORPHA:230851
HP:0000574	Thick eyebrow	80816	ASXL3	OMIM:615485
HP:0000574	Thick eyebrow	526	ATP6V1B2	OMIM:616455
HP:0000574	Thick eyebrow	526	ATP6V1B2	ORPHA:3473
HP:0000574	Thick eyebrow	23384	SPECC1L	ORPHA:1519
HP:0000574	Thick eyebrow	3764	KCNJ8	ORPHA:1517
HP:0000574	Thick eyebrow	10060	ABCC9	ORPHA:1517
HP:0000574	Thick eyebrow	57082	KNL1	OMIM:604321
HP:0000574	Thick eyebrow	29957	SLC25A24	ORPHA:2963
HP:0000574	Thick eyebrow	6595	SMARCA2	OMIM:619293
HP:0000574	Thick eyebrow	6197	RPS6KA3	OMIM:303600
HP:0000574	Thick eyebrow	57492	ARID1B	OMIM:135900
HP:0000574	Thick eyebrow	57492	ARID1B	ORPHA:1465
HP:0000574	Thick eyebrow	25885	POLR1A	OMIM:616462
HP:0000574	Thick eyebrow	5119	CHMP1A	OMIM:614961
HP:0000574	Thick eyebrow	4853	NOTCH2	OMIM:102500
HP:0000574	Thick eyebrow	4853	NOTCH2	ORPHA:955
HP:0000574	Thick eyebrow	55699	IARS2	ORPHA:436174
HP:0000574	Thick eyebrow	55699	IARS2	OMIM:616007
HP:0000574	Thick eyebrow	1009	CDH11	OMIM:619736
HP:0000574	Thick eyebrow	1009	CDH11	OMIM:211380
HP:0000574	Thick eyebrow	10015	PDCD6IP	OMIM:620047
HP:0000574	Thick eyebrow	8289	ARID1A	OMIM:614607
HP:0000574	Thick eyebrow	8289	ARID1A	ORPHA:1465
HP:0000574	Thick eyebrow	6598	SMARCB1	OMIM:614608
HP:0000574	Thick eyebrow	6598	SMARCB1	ORPHA:1465
HP:0000574	Thick eyebrow	6597	SMARCA4	OMIM:614609
HP:0000574	Thick eyebrow	6597	SMARCA4	ORPHA:1465
HP:0000574	Thick eyebrow	157680	VPS13B	OMIM:216550
HP:0000574	Thick eyebrow	157680	VPS13B	ORPHA:193
HP:0000574	Thick eyebrow	6872	TAF1	ORPHA:480907
HP:0000574	Thick eyebrow	4330	MN1	OMIM:618774
HP:0000574	Thick eyebrow	4297	KMT2A	ORPHA:319182
HP:0000574	Thick eyebrow	4297	KMT2A	OMIM:605130
HP:0000574	Thick eyebrow	55148	UBR7	OMIM:619189
HP:0000574	Thick eyebrow	23461	ABCA5	ORPHA:2026
HP:0000574	Thick eyebrow	93627	TBCK	ORPHA:488632
HP:0000574	Thick eyebrow	2783	GNB2	OMIM:619503
HP:0000574	Thick eyebrow	3782	KCNN3	OMIM:618658
HP:0000574	Thick eyebrow	3782	KCNN3	ORPHA:3473
HP:0000574	Thick eyebrow	3756	KCNH1	ORPHA:3473
HP:0000574	Thick eyebrow	3756	KCNH1	OMIM:135500
HP:0000574	Thick eyebrow	3756	KCNH1	ORPHA:420561
HP:0000574	Thick eyebrow	4247	MGAT2	OMIM:212066
HP:0000574	Thick eyebrow	253738	EBF3	OMIM:617330
HP:0000574	Thick eyebrow	1182	CLCN3	OMIM:619512
HP:0000574	Thick eyebrow	388662	SLC6A17	ORPHA:457212
HP:0000574	Thick eyebrow	4613	MYCN	OMIM:620748
HP:0000574	Thick eyebrow	55280	CWF19L1	OMIM:616127
HP:0000574	Thick eyebrow	27125	AFF4	OMIM:616368
HP:0000574	Thick eyebrow	27125	AFF4	ORPHA:444077
HP:0000574	Thick eyebrow	9681	DEPDC5	OMIM:620504
HP:0000574	Thick eyebrow	26053	AUTS2	OMIM:615834
HP:0000574	Thick eyebrow	5593	PRKG2	OMIM:619636
HP:0000574	Thick eyebrow	54499	TMCO1	OMIM:213980
HP:0000574	Thick eyebrow	54499	TMCO1	ORPHA:1394
HP:0000574	Thick eyebrow	285362	SUMF1	ORPHA:585
HP:0000574	Thick eyebrow	5700	PSMC1	OMIM:620071
HP:0000574	Thick eyebrow	54828	BCAS3	OMIM:619641
HP:0000574	Thick eyebrow	4089	SMAD4	OMIM:139210
HP:0000574	Thick eyebrow	253959	RALGAPA1	OMIM:618797
HP:0000574	Thick eyebrow	81887	LAS1L	ORPHA:3459
HP:0000574	Thick eyebrow	81887	LAS1L	OMIM:309585
HP:0000574	Thick eyebrow	55869	HDAC8	ORPHA:3459
HP:0000574	Thick eyebrow	55869	HDAC8	ORPHA:199
HP:0000574	Thick eyebrow	6605	SMARCE1	OMIM:616938
HP:0000574	Thick eyebrow	6605	SMARCE1	ORPHA:1465
HP:0000574	Thick eyebrow	668	FOXL2	ORPHA:572333
HP:0000574	Thick eyebrow	55691	FRMD4A	OMIM:616819
HP:0000574	Thick eyebrow	55691	FRMD4A	ORPHA:466688
HP:0000574	Thick eyebrow	4208	MEF2C	ORPHA:228384
HP:0000574	Thick eyebrow	8242	KDM5C	OMIM:300534
HP:0000574	Thick eyebrow	23162	MAPK8IP3	OMIM:618443
HP:0000574	Thick eyebrow	7355	SLC35A2	OMIM:300896
HP:0000574	Thick eyebrow	54941	RNF125	OMIM:616260
HP:0000574	Thick eyebrow	5077	PAX3	OMIM:193500
HP:0000574	Thick eyebrow	5077	PAX3	ORPHA:896
HP:0000574	Thick eyebrow	5077	PAX3	ORPHA:894
HP:0000574	Thick eyebrow	57479	PRR12	OMIM:619539
HP:0000574	Thick eyebrow	25836	NIPBL	OMIM:122470
HP:0000574	Thick eyebrow	25836	NIPBL	ORPHA:199
HP:0000574	Thick eyebrow	79718	TBL1XR1	OMIM:616944
HP:0000574	Thick eyebrow	51322	WAC	OMIM:616708
HP:0000574	Thick eyebrow	51322	WAC	ORPHA:466950
HP:0000574	Thick eyebrow	79791	FBXO31	OMIM:615979
HP:0000574	Thick eyebrow	85440	DOCK7	OMIM:615859
HP:0000574	Thick eyebrow	85440	DOCK7	ORPHA:411986
HP:0000574	Thick eyebrow	84295	PHF6	ORPHA:127
HP:0000574	Thick eyebrow	1387	CREBBP	OMIM:618332
HP:0000574	Thick eyebrow	1387	CREBBP	OMIM:180849
HP:0000574	Thick eyebrow	29123	ANKRD11	OMIM:148050
HP:0000574	Thick eyebrow	29123	ANKRD11	ORPHA:2332
HP:0000574	Thick eyebrow	8621	CDK13	OMIM:617360
HP:0000574	Thick eyebrow	2033	EP300	OMIM:613684
HP:0000574	Thick eyebrow	2033	EP300	OMIM:180849
HP:0000574	Thick eyebrow	6878	TAF6	OMIM:617126
HP:0000574	Thick eyebrow	6878	TAF6	ORPHA:199
HP:0000574	Thick eyebrow	11338	U2AF2	OMIM:620535
HP:0000574	Thick eyebrow	1642	DDB1	OMIM:619426
HP:0000574	Thick eyebrow	10664	CTCF	OMIM:615502
HP:0000574	Thick eyebrow	10664	CTCF	ORPHA:363611
HP:0000574	Thick eyebrow	3720	JARID2	OMIM:620098
HP:0000574	Thick eyebrow	11160	ERLIN2	ORPHA:280384
HP:0000574	Thick eyebrow	11160	ERLIN2	ORPHA:209951
HP:0000574	Thick eyebrow	5979	RET	OMIM:162300
HP:0000574	Thick eyebrow	23013	SPEN	OMIM:619312
HP:0000574	Thick eyebrow	6885	MAP3K7	OMIM:617137
HP:0000574	Thick eyebrow	85358	SHANK3	OMIM:606232
HP:0000574	Thick eyebrow	29998	BICRA	OMIM:619325
HP:0000574	Thick eyebrow	57520	HECW2	OMIM:617268
HP:0000574	Thick eyebrow	6492	SIM1	ORPHA:171829
HP:0000574	Thick eyebrow	83479	DDX59	OMIM:174300
HP:0000574	Thick eyebrow	9126	SMC3	OMIM:610759
HP:0000574	Thick eyebrow	9126	SMC3	ORPHA:199
HP:0000574	Thick eyebrow	54808	DYM	OMIM:223800
HP:0000574	Thick eyebrow	55777	MBD5	OMIM:156200
HP:0000574	Thick eyebrow	4784	NFIX	OMIM:602535
HP:0000574	Thick eyebrow	10588	MTHFS	OMIM:618367
HP:0000574	Thick eyebrow	23221	RHOBTB2	OMIM:618004
HP:0000574	Thick eyebrow	4125	MAN2B1	OMIM:248500
HP:0000574	Thick eyebrow	6601	SMARCC2	OMIM:618362
HP:0000574	Thick eyebrow	6601	SMARCC2	ORPHA:1465
HP:0000574	Thick eyebrow	6659	SOX4	ORPHA:1465
HP:0000574	Thick eyebrow	5977	DPF2	ORPHA:1465
HP:0000574	Thick eyebrow	5977	DPF2	OMIM:618027
HP:0000574	Thick eyebrow	6602	SMARCD1	ORPHA:1465
HP:0000574	Thick eyebrow	196528	ARID2	ORPHA:1465
HP:0000574	Thick eyebrow	6664	SOX11	ORPHA:1465
HP:0000574	Thick eyebrow	22827	PUF60	ORPHA:508488
HP:0000574	Thick eyebrow	23258	DENND5A	OMIM:617281
HP:0000574	Thick eyebrow	8091	HMGA2	ORPHA:94063
HP:0000574	Thick eyebrow	23592	LEMD3	ORPHA:94063
HP:0000574	Thick eyebrow	1105	CHD1	ORPHA:529965
HP:0000574	Thick eyebrow	5718	PSMD12	ORPHA:529962
HP:0000574	Thick eyebrow	2186	BPTF	ORPHA:529962
HP:0000574	Thick eyebrow	6304	SATB1	OMIM:619229
HP:0000574	Thick eyebrow	54551	MAGEL2	OMIM:615547
HP:0000574	Thick eyebrow	158326	FREM1	OMIM:608980
HP:0000574	Thick eyebrow	6874	TAF4	OMIM:620450
HP:0000574	Thick eyebrow	23476	BRD4	ORPHA:199
HP:0000574	Thick eyebrow	50801	KCNK4	OMIM:618381
HP:0000574	Thick eyebrow	6711	SPTBN1	OMIM:619475
HP:0000574	Thick eyebrow	10815	CPLX1	OMIM:617976
HP:0000574	Thick eyebrow	2517	FUCA1	OMIM:230000
HP:0000574	Thick eyebrow	54361	WNT4	ORPHA:247768
HP:0000574	Thick eyebrow	50937	CDON	OMIM:614226
HP:0000574	Thick eyebrow	3425	IDUA	ORPHA:93473
HP:0000574	Thick eyebrow	2131	EXT1	ORPHA:502
HP:0000574	Thick eyebrow	7227	TRPS1	ORPHA:502
HP:0000574	Thick eyebrow	7204	TRIO	OMIM:617061
HP:0000574	Thick eyebrow	54880	BCOR	OMIM:300166
HP:0000574	Thick eyebrow	55617	TASP1	OMIM:618950
HP:0000574	Thick eyebrow	23067	SETD1B	OMIM:619000
HP:0000574	Thick eyebrow	114928	GPRASP2	OMIM:301018
HP:0000574	Thick eyebrow	57688	ZSWIM6	OMIM:617865
HP:0000574	Thick eyebrow	2799	GNS	OMIM:252940
HP:0000574	Thick eyebrow	2273	FHL1	OMIM:300280
HP:0000574	Thick eyebrow	8241	RBM10	ORPHA:2886
HP:0000574	Thick eyebrow	54888	NSUN2	OMIM:611091
HP:0000574	Thick eyebrow	55023	PHIP	OMIM:617991
HP:0000574	Thick eyebrow	2990	GUSB	OMIM:253220
HP:0000574	Thick eyebrow	51594	NBAS	OMIM:614800
HP:0000574	Thick eyebrow	4848	CNOT2	OMIM:618608
HP:0000574	Thick eyebrow	9469	CHST3	OMIM:245600
HP:0000574	Thick eyebrow	26229	B3GAT3	OMIM:245600
HP:0000574	Thick eyebrow	129285	PPP1R21	OMIM:619383
HP:0000574	Thick eyebrow	55553	SOX6	OMIM:618971
HP:0000574	Thick eyebrow	55331	ACER3	OMIM:617762
HP:0000574	Thick eyebrow	7543	ZFX	OMIM:301118
HP:0000574	Thick eyebrow	8626	TP63	ORPHA:1896
HP:0000574	Thick eyebrow	10844	TUBGCP2	OMIM:618737
HP:0000574	Thick eyebrow	58508	KMT2C	OMIM:617768
HP:0000574	Thick eyebrow	3480	IGF1R	OMIM:270450
HP:0025380	Increased circulating androstenedione concentration	2908	NR3C1	OMIM:615962
HP:0025380	Increased circulating androstenedione concentration	54361	WNT4	OMIM:158330
HP:0025380	Increased circulating androstenedione concentration	3284	HSD3B2	ORPHA:90791
HP:0025380	Increased circulating androstenedione concentration	1584	CYP11B1	OMIM:202010
HP:0025380	Increased circulating androstenedione concentration	1584	CYP11B1	ORPHA:90795
HP:0025380	Increased circulating androstenedione concentration	84133	ZNRF3	ORPHA:1501
HP:0025380	Increased circulating androstenedione concentration	7157	TP53	ORPHA:1501
HP:0025380	Increased circulating androstenedione concentration	5573	PRKAR1A	ORPHA:1501
HP:0025380	Increased circulating androstenedione concentration	1499	CTNNB1	ORPHA:1501
HP:0025380	Increased circulating androstenedione concentration	1029	CDKN2A	ORPHA:1501
HP:0025380	Increased circulating androstenedione concentration	7015	TERT	ORPHA:1501
HP:0025383	Dorsocervical fat pad	5566	PRKACA	OMIM:615830
HP:0025383	Dorsocervical fat pad	79798	ARMC5	ORPHA:189427
HP:0025383	Dorsocervical fat pad	23028	KDM1A	ORPHA:189427
HP:0025383	Dorsocervical fat pad	2778	GNAS	ORPHA:189427
HP:0025383	Dorsocervical fat pad	7840	ALMS1	ORPHA:64
HP:0025383	Dorsocervical fat pad	84196	USP48	ORPHA:96253
HP:0025383	Dorsocervical fat pad	7157	TP53	ORPHA:96253
HP:0025383	Dorsocervical fat pad	9101	USP8	ORPHA:96253
HP:0025383	Dorsocervical fat pad	64072	CDH23	ORPHA:96253
HP:0025383	Dorsocervical fat pad	2908	NR3C1	ORPHA:96253
HP:0025383	Dorsocervical fat pad	673	BRAF	ORPHA:96253
HP:0025383	Dorsocervical fat pad	546	ATRX	ORPHA:96253
HP:0025383	Dorsocervical fat pad	150	ADRA2A	OMIM:620679
HP:0025383	Dorsocervical fat pad	93587	TRMT10A	ORPHA:391408
HP:0025383	Dorsocervical fat pad	93587	TRMT10A	OMIM:616033
HP:0025383	Dorsocervical fat pad	84919	PPP1R15B	ORPHA:391408
HP:0025383	Dorsocervical fat pad	5573	PRKAR1A	ORPHA:1359
HP:0025383	Dorsocervical fat pad	50940	PDE11A	ORPHA:1359
HP:0025386	Bitemporal hollowing	55770	EXOC2	OMIM:619306
HP:0025386	Bitemporal hollowing	6711	SPTBN1	OMIM:619475
HP:0025387	Pill-rolling tremor	6792	CDKL5	ORPHA:3095
HP:0025387	Pill-rolling tremor	22854	NTNG1	ORPHA:3095
HP:0025387	Pill-rolling tremor	9568	GABBR2	ORPHA:3095
HP:0025387	Pill-rolling tremor	4204	MECP2	ORPHA:3095
HP:0025387	Pill-rolling tremor	8243	SMC1A	ORPHA:3095
HP:0025387	Pill-rolling tremor	5071	PRKN	OMIM:600116
HP:0025387	Pill-rolling tremor	8398	PLA2G6	OMIM:612953
HP:0025387	Pill-rolling tremor	9829	DNAJC6	OMIM:615528
HP:0025388	Thyroid nodule	23405	DICER1	OMIM:180295
HP:0025388	Thyroid nodule	324	APC	ORPHA:247806
HP:0025388	Thyroid nodule	324	APC	ORPHA:79665
HP:0025388	Thyroid nodule	5979	RET	OMIM:171400
HP:0025389	Pulmonary interstitial high-resolution computed tomography abnormality	7015	TERT	OMIM:614742
HP:0025389	Pulmonary interstitial high-resolution computed tomography abnormality	7015	TERT	ORPHA:2032
HP:0025389	Pulmonary interstitial high-resolution computed tomography abnormality	6440	SFTPC	ORPHA:2032
HP:0025389	Pulmonary interstitial high-resolution computed tomography abnormality	729238	SFTPA2	ORPHA:2032
HP:0025389	Pulmonary interstitial high-resolution computed tomography abnormality	79991	STN1	ORPHA:2032
HP:0025389	Pulmonary interstitial high-resolution computed tomography abnormality	653509	SFTPA1	ORPHA:2032
HP:0025389	Pulmonary interstitial high-resolution computed tomography abnormality	21	ABCA3	ORPHA:2032
HP:0025389	Pulmonary interstitial high-resolution computed tomography abnormality	21	ABCA3	OMIM:610921
HP:0025389	Pulmonary interstitial high-resolution computed tomography abnormality	1832	DSP	ORPHA:2032
HP:0025389	Pulmonary interstitial high-resolution computed tomography abnormality	727897	MUC5B	ORPHA:2032
HP:0025389	Pulmonary interstitial high-resolution computed tomography abnormality	10144	FAM13A	ORPHA:2032
HP:0025389	Pulmonary interstitial high-resolution computed tomography abnormality	23250	ATP11A	ORPHA:2032
HP:0025389	Pulmonary interstitial high-resolution computed tomography abnormality	91039	DPP9	ORPHA:2032
HP:0025389	Pulmonary interstitial high-resolution computed tomography abnormality	51750	RTEL1	ORPHA:2032
HP:0025389	Pulmonary interstitial high-resolution computed tomography abnormality	7012	TERC	ORPHA:2032
HP:0025389	Pulmonary interstitial high-resolution computed tomography abnormality	5073	PARN	ORPHA:2032
HP:0025389	Pulmonary interstitial high-resolution computed tomography abnormality	1439	CSF2RB	ORPHA:264675
HP:0025389	Pulmonary interstitial high-resolution computed tomography abnormality	1438	CSF2RA	ORPHA:264675
HP:0025389	Pulmonary interstitial high-resolution computed tomography abnormality	3123	HLA-DRB1	ORPHA:747
HP:0025389	Pulmonary interstitial high-resolution computed tomography abnormality	1281	COL3A1	OMIM:130050
HP:0025389	Pulmonary interstitial high-resolution computed tomography abnormality	427	ASAH1	ORPHA:333
HP:0025389	Pulmonary interstitial high-resolution computed tomography abnormality	3115	HLA-DPB1	ORPHA:133
HP:0025389	Pulmonary interstitial high-resolution computed tomography abnormality	7080	NKX2-1	OMIM:610978
HP:0025389	Pulmonary interstitial high-resolution computed tomography abnormality	6439	SFTPB	OMIM:265120
HP:0025389	Pulmonary interstitial high-resolution computed tomography abnormality	659	BMPR2	OMIM:265450
HP:0025389	Pulmonary interstitial high-resolution computed tomography abnormality	440275	EIF2AK4	ORPHA:199241
HP:0025389	Pulmonary interstitial high-resolution computed tomography abnormality	10568	SLC34A2	ORPHA:60025
HP:0030681	Abnormal morphology of myocardial trabeculae	10021	HCN4	OMIM:163800
HP:0030681	Abnormal morphology of myocardial trabeculae	57534	MIB1	OMIM:615092
HP:0030681	Abnormal morphology of myocardial trabeculae	1837	DTNA	OMIM:604169
HP:0030681	Abnormal morphology of myocardial trabeculae	4841	NONO	OMIM:300967
HP:0030681	Abnormal morphology of myocardial trabeculae	63976	PRDM16	OMIM:615373
HP:0030681	Abnormal morphology of myocardial trabeculae	4607	MYBPC3	OMIM:615396
HP:0030681	Abnormal morphology of myocardial trabeculae	6392	SDHD	OMIM:619167
HP:0030681	Abnormal morphology of myocardial trabeculae	805	CALM2	OMIM:616249
HP:0030681	Abnormal morphology of myocardial trabeculae	4285	MIPEP	OMIM:617228
HP:0030681	Abnormal morphology of myocardial trabeculae	388753	COA6	OMIM:616501
HP:0030681	Abnormal morphology of myocardial trabeculae	6331	SCN5A	ORPHA:1344
HP:0030681	Abnormal morphology of myocardial trabeculae	4878	NPPA	ORPHA:1344
HP:0030681	Abnormal morphology of myocardial trabeculae	6389	SDHA	OMIM:613642
HP:0030681	Abnormal morphology of myocardial trabeculae	6389	SDHA	OMIM:252011
HP:0030681	Abnormal morphology of myocardial trabeculae	70	ACTC1	OMIM:613424
HP:0030681	Abnormal morphology of myocardial trabeculae	88	ACTN2	OMIM:612158
HP:0030681	Abnormal morphology of myocardial trabeculae	4625	MYH7	OMIM:613426
HP:0030681	Abnormal morphology of myocardial trabeculae	11155	LDB3	OMIM:601493
HP:0030681	Abnormal morphology of myocardial trabeculae	7139	TNNT2	OMIM:601494
HP:0030681	Abnormal morphology of myocardial trabeculae	57176	VARS2	OMIM:615917
HP:0030681	Abnormal morphology of myocardial trabeculae	3728	JUP	OMIM:601214
HP:0030687	Abnormal glucagon level	2642	GCGR	OMIM:619290
HP:0030687	Abnormal glucagon level	2642	GCGR	ORPHA:438274
HP:0030687	Abnormal glucagon level	1027	CDKN1B	ORPHA:276152
HP:0030688	Increased glucagon level	2642	GCGR	OMIM:619290
HP:0030688	Increased glucagon level	2642	GCGR	ORPHA:438274
HP:0030688	Increased glucagon level	1027	CDKN1B	ORPHA:276152
HP:0030685	Decreased adiponectin level	63924	CIDEC	ORPHA:435651
HP:0030685	Decreased adiponectin level	63924	CIDEC	OMIM:615238
HP:0030685	Decreased adiponectin level	3991	LIPE	ORPHA:435660
HP:0030685	Decreased adiponectin level	4000	LMNA	ORPHA:280365
HP:0030685	Decreased adiponectin level	208	AKT2	ORPHA:79085
HP:0030685	Decreased adiponectin level	5130	PCYT1A	OMIM:620680
HP:0030684	Abnormal adiponectin level	63924	CIDEC	ORPHA:435651
HP:0030684	Abnormal adiponectin level	63924	CIDEC	OMIM:615238
HP:0030684	Abnormal adiponectin level	3991	LIPE	ORPHA:435660
HP:0030684	Abnormal adiponectin level	4000	LMNA	ORPHA:280365
HP:0030684	Abnormal adiponectin level	208	AKT2	ORPHA:79085
HP:0030684	Abnormal adiponectin level	5130	PCYT1A	OMIM:620680
HP:0030682	Left ventricular noncompaction	10021	HCN4	OMIM:163800
HP:0030682	Left ventricular noncompaction	57534	MIB1	OMIM:615092
HP:0030682	Left ventricular noncompaction	1837	DTNA	OMIM:604169
HP:0030682	Left ventricular noncompaction	4841	NONO	OMIM:300967
HP:0030682	Left ventricular noncompaction	63976	PRDM16	OMIM:615373
HP:0030682	Left ventricular noncompaction	4607	MYBPC3	OMIM:615396
HP:0030682	Left ventricular noncompaction	6392	SDHD	OMIM:619167
HP:0030682	Left ventricular noncompaction	805	CALM2	OMIM:616249
HP:0030682	Left ventricular noncompaction	4285	MIPEP	OMIM:617228
HP:0030682	Left ventricular noncompaction	388753	COA6	OMIM:616501
HP:0030682	Left ventricular noncompaction	6331	SCN5A	ORPHA:1344
HP:0030682	Left ventricular noncompaction	4878	NPPA	ORPHA:1344
HP:0030682	Left ventricular noncompaction	6389	SDHA	OMIM:613642
HP:0030682	Left ventricular noncompaction	6389	SDHA	OMIM:252011
HP:0030682	Left ventricular noncompaction	70	ACTC1	OMIM:613424
HP:0030682	Left ventricular noncompaction	88	ACTN2	OMIM:612158
HP:0030682	Left ventricular noncompaction	4625	MYH7	OMIM:613426
HP:0030682	Left ventricular noncompaction	11155	LDB3	OMIM:601493
HP:0030682	Left ventricular noncompaction	7139	TNNT2	OMIM:601494
HP:0030682	Left ventricular noncompaction	57176	VARS2	OMIM:615917
HP:0003300	Ovoid vertebral bodies	1280	COL2A1	OMIM:184255
HP:0003300	Ovoid vertebral bodies	1280	COL2A1	OMIM:271700
HP:0003300	Ovoid vertebral bodies	1280	COL2A1	OMIM:151210
HP:0003300	Ovoid vertebral bodies	1280	COL2A1	ORPHA:93315
HP:0003300	Ovoid vertebral bodies	1280	COL2A1	OMIM:183900
HP:0003300	Ovoid vertebral bodies	1280	COL2A1	ORPHA:1856
HP:0003300	Ovoid vertebral bodies	2335	FN1	OMIM:184255
HP:0003300	Ovoid vertebral bodies	2335	FN1	ORPHA:93315
HP:0003300	Ovoid vertebral bodies	126792	B3GALT6	ORPHA:536467
HP:0003300	Ovoid vertebral bodies	126792	B3GALT6	OMIM:271640
HP:0003300	Ovoid vertebral bodies	4882	NPR2	OMIM:602875
HP:0003300	Ovoid vertebral bodies	4882	NPR2	ORPHA:40
HP:0003300	Ovoid vertebral bodies	10940	POP1	OMIM:617396
HP:0003300	Ovoid vertebral bodies	3549	IHH	ORPHA:63446
HP:0003300	Ovoid vertebral bodies	3549	IHH	OMIM:607778
HP:0003300	Ovoid vertebral bodies	4052	LTBP1	OMIM:619451
HP:0003300	Ovoid vertebral bodies	2200	FBN1	OMIM:614185
HP:0003300	Ovoid vertebral bodies	2200	FBN1	ORPHA:969
HP:0003300	Ovoid vertebral bodies	2200	FBN1	OMIM:102370
HP:0003300	Ovoid vertebral bodies	2517	FUCA1	OMIM:230000
HP:0003300	Ovoid vertebral bodies	2588	GALNS	OMIM:253000
HP:0003300	Ovoid vertebral bodies	54543	TOMM7	OMIM:620601
HP:0003300	Ovoid vertebral bodies	4054	LTBP3	ORPHA:969
HP:0003300	Ovoid vertebral bodies	9719	ADAMTSL2	OMIM:231050
HP:0003300	Ovoid vertebral bodies	411	ARSB	OMIM:253200
HP:0003300	Ovoid vertebral bodies	10060	ABCC9	OMIM:239850
HP:0003300	Ovoid vertebral bodies	10060	ABCC9	ORPHA:1517
HP:0003300	Ovoid vertebral bodies	4148	MATN3	OMIM:608728
HP:0003300	Ovoid vertebral bodies	3977	LIFR	OMIM:601559
HP:0003300	Ovoid vertebral bodies	5130	PCYT1A	ORPHA:85167
HP:0003300	Ovoid vertebral bodies	5130	PCYT1A	OMIM:608940
HP:0003300	Ovoid vertebral bodies	6729	SRP54	OMIM:260400
HP:0003300	Ovoid vertebral bodies	51119	SBDS	OMIM:260400
HP:0003300	Ovoid vertebral bodies	134218	DNAJC21	OMIM:260400
HP:0003300	Ovoid vertebral bodies	89910	UBE3B	OMIM:244450
HP:0003300	Ovoid vertebral bodies	1311	COMP	OMIM:132400
HP:0003300	Ovoid vertebral bodies	2720	GLB1	OMIM:253010
HP:0003300	Ovoid vertebral bodies	50485	SMARCAL1	ORPHA:1830
HP:0003300	Ovoid vertebral bodies	50485	SMARCAL1	OMIM:242900
HP:0003300	Ovoid vertebral bodies	3930	LBR	OMIM:618019
HP:0003300	Ovoid vertebral bodies	23169	SLC35D1	OMIM:269250
HP:0003300	Ovoid vertebral bodies	3764	KCNJ8	ORPHA:1517
HP:0003300	Ovoid vertebral bodies	79158	GNPTAB	OMIM:252500
HP:0003300	Ovoid vertebral bodies	6448	SGSH	OMIM:252900
HP:0003300	Ovoid vertebral bodies	138050	HGSNAT	OMIM:252930
HP:0003300	Ovoid vertebral bodies	4669	NAGLU	OMIM:252920
HP:0003300	Ovoid vertebral bodies	2799	GNS	OMIM:252940
HP:0003300	Ovoid vertebral bodies	6913	TBX15	OMIM:260660
HP:0001300	Parkinsonism	6622	SNCA	OMIM:605543
HP:0001300	Parkinsonism	6622	SNCA	ORPHA:411602
HP:0001300	Parkinsonism	6622	SNCA	OMIM:127750
HP:0001300	Parkinsonism	6622	SNCA	ORPHA:171695
HP:0001300	Parkinsonism	6622	SNCA	OMIM:168601
HP:0001300	Parkinsonism	875	CBS	ORPHA:394
HP:0001300	Parkinsonism	4287	ATXN3	OMIM:109150
HP:0001300	Parkinsonism	4287	ATXN3	OMIM:168600
HP:0001300	Parkinsonism	4137	MAPT	OMIM:601104
HP:0001300	Parkinsonism	4137	MAPT	ORPHA:240071
HP:0001300	Parkinsonism	4137	MAPT	ORPHA:240112
HP:0001300	Parkinsonism	4137	MAPT	OMIM:600274
HP:0001300	Parkinsonism	4137	MAPT	OMIM:260540
HP:0001300	Parkinsonism	4137	MAPT	OMIM:168600
HP:0001300	Parkinsonism	4137	MAPT	ORPHA:100070
HP:0001300	Parkinsonism	10159	ATP6AP2	OMIM:300911
HP:0001300	Parkinsonism	10159	ATP6AP2	OMIM:300423
HP:0001300	Parkinsonism	23516	SLC39A14	OMIM:617013
HP:0001300	Parkinsonism	23516	SLC39A14	ORPHA:521406
HP:0001300	Parkinsonism	400916	CHCHD10	OMIM:615911
HP:0001300	Parkinsonism	400916	CHCHD10	ORPHA:275872
HP:0001300	Parkinsonism	79903	NAA60	OMIM:620786
HP:0001300	Parkinsonism	5428	POLG	OMIM:258450
HP:0001300	Parkinsonism	5428	POLG	OMIM:157640
HP:0001300	Parkinsonism	4353	MPO	OMIM:104300
HP:0001300	Parkinsonism	4846	NOS3	OMIM:104300
HP:0001300	Parkinsonism	5328	PLAU	OMIM:104300
HP:0001300	Parkinsonism	351	APP	OMIM:104300
HP:0001300	Parkinsonism	351	APP	ORPHA:1020
HP:0001300	Parkinsonism	9256	TSPOAP1	ORPHA:101150
HP:0001300	Parkinsonism	7054	TH	ORPHA:101150
HP:0001300	Parkinsonism	7054	TH	OMIM:605407
HP:0001300	Parkinsonism	84320	ACBD6	OMIM:620785
HP:0001300	Parkinsonism	2521	FUS	ORPHA:275872
HP:0001300	Parkinsonism	2521	FUS	ORPHA:300605
HP:0001300	Parkinsonism	8878	SQSTM1	ORPHA:275872
HP:0001300	Parkinsonism	7415	VCP	ORPHA:275872
HP:0001300	Parkinsonism	7415	VCP	ORPHA:329478
HP:0001300	Parkinsonism	7415	VCP	ORPHA:100070
HP:0001300	Parkinsonism	23435	TARDBP	ORPHA:275872
HP:0001300	Parkinsonism	29110	TBK1	ORPHA:275872
HP:0001300	Parkinsonism	6571	SLC18A2	ORPHA:352649
HP:0001300	Parkinsonism	6571	SLC18A2	OMIM:618049
HP:0001300	Parkinsonism	27235	COQ2	OMIM:146500
HP:0001300	Parkinsonism	27235	COQ2	ORPHA:98933
HP:0001300	Parkinsonism	27235	COQ2	ORPHA:227510
HP:0001300	Parkinsonism	478	ATP1A3	OMIM:128235
HP:0001300	Parkinsonism	478	ATP1A3	ORPHA:71517
HP:0001300	Parkinsonism	5521	PPP2R2B	OMIM:604326
HP:0001300	Parkinsonism	5521	PPP2R2B	ORPHA:98762
HP:0001300	Parkinsonism	1639	DCTN1	ORPHA:178509
HP:0001300	Parkinsonism	1639	DCTN1	OMIM:168605
HP:0001300	Parkinsonism	6531	SLC6A3	ORPHA:238455
HP:0001300	Parkinsonism	6531	SLC6A3	OMIM:613135
HP:0001300	Parkinsonism	1822	ATN1	OMIM:125370
HP:0001300	Parkinsonism	84909	AOPEP	OMIM:619565
HP:0001300	Parkinsonism	56521	DNAJC12	OMIM:617384
HP:0001300	Parkinsonism	6311	ATXN2	OMIM:183090
HP:0001300	Parkinsonism	6311	ATXN2	ORPHA:98756
HP:0001300	Parkinsonism	6311	ATXN2	OMIM:168600
HP:0001300	Parkinsonism	5155	PDGFB	OMIM:615483
HP:0001300	Parkinsonism	5155	PDGFB	OMIM:213600
HP:0001300	Parkinsonism	5575	PRKAR1B	ORPHA:412066
HP:0001300	Parkinsonism	5159	PDGFRB	OMIM:615007
HP:0001300	Parkinsonism	5159	PDGFRB	OMIM:213600
HP:0001300	Parkinsonism	5610	EIF2AK2	OMIM:618877
HP:0001300	Parkinsonism	3781	KCNN2	OMIM:619725
HP:0001300	Parkinsonism	11152	WDR45	ORPHA:329284
HP:0001300	Parkinsonism	11152	WDR45	OMIM:300894
HP:0001300	Parkinsonism	9829	DNAJC6	OMIM:615528
HP:0001300	Parkinsonism	54822	TRPM7	OMIM:105500
HP:0001300	Parkinsonism	5071	PRKN	OMIM:600116
HP:0001300	Parkinsonism	8575	PRKRA	ORPHA:210571
HP:0001300	Parkinsonism	8575	PRKRA	OMIM:612067
HP:0001300	Parkinsonism	4204	MECP2	OMIM:300055
HP:0001300	Parkinsonism	4204	MECP2	ORPHA:3077
HP:0001300	Parkinsonism	8867	SYNJ1	OMIM:615530
HP:0001300	Parkinsonism	7343	UBTF	OMIM:617672
HP:0001300	Parkinsonism	55737	VPS35	OMIM:614203
HP:0001300	Parkinsonism	55737	VPS35	ORPHA:411602
HP:0001300	Parkinsonism	10352	WARS2	OMIM:619738
HP:0001300	Parkinsonism	4358	MPV17	OMIM:256810
HP:0001300	Parkinsonism	2629	GBA1	ORPHA:411602
HP:0001300	Parkinsonism	2629	GBA1	OMIM:127750
HP:0001300	Parkinsonism	2629	GBA1	OMIM:168600
HP:0001300	Parkinsonism	2629	GBA1	ORPHA:77259
HP:0001300	Parkinsonism	23317	DNAJC13	ORPHA:411602
HP:0001300	Parkinsonism	1981	EIF4G1	ORPHA:411602
HP:0001300	Parkinsonism	1981	EIF4G1	OMIM:614251
HP:0001300	Parkinsonism	120892	LRRK2	ORPHA:411602
HP:0001300	Parkinsonism	120892	LRRK2	OMIM:607060
HP:0001300	Parkinsonism	26058	GIGYF2	ORPHA:411602
HP:0001300	Parkinsonism	10939	AFG3L2	OMIM:610246
HP:0001300	Parkinsonism	10939	AFG3L2	ORPHA:101109
HP:0001300	Parkinsonism	6575	SLC20A2	OMIM:213600
HP:0001300	Parkinsonism	116442	RAB39B	OMIM:311510
HP:0001300	Parkinsonism	1312	COMT	ORPHA:567
HP:0001300	Parkinsonism	221037	JMJD1C	ORPHA:567
HP:0001300	Parkinsonism	2812	GP1BB	ORPHA:567
HP:0001300	Parkinsonism	6239	RREB1	ORPHA:567
HP:0001300	Parkinsonism	6899	TBX1	ORPHA:567
HP:0001300	Parkinsonism	7290	HIRA	ORPHA:567
HP:0001300	Parkinsonism	9632	SEC24C	ORPHA:567
HP:0001300	Parkinsonism	7353	UFD1	ORPHA:567
HP:0001300	Parkinsonism	421	ARVCF	ORPHA:567
HP:0001300	Parkinsonism	2332	FMR1	ORPHA:93256
HP:0001300	Parkinsonism	2332	FMR1	OMIM:300623
HP:0001300	Parkinsonism	56652	TWNK	OMIM:609286
HP:0001300	Parkinsonism	23400	ATP13A2	OMIM:606693
HP:0001300	Parkinsonism	23400	ATP13A2	ORPHA:306674
HP:0001300	Parkinsonism	23400	ATP13A2	OMIM:617225
HP:0001300	Parkinsonism	1130	LYST	ORPHA:167
HP:0001300	Parkinsonism	10273	STUB1	OMIM:618093
HP:0001300	Parkinsonism	5621	PRNP	OMIM:606688
HP:0001300	Parkinsonism	5621	PRNP	OMIM:137440
HP:0001300	Parkinsonism	83636	C19orf12	OMIM:614298
HP:0001300	Parkinsonism	80208	SPG11	ORPHA:2822
HP:0001300	Parkinsonism	80208	SPG11	ORPHA:300605
HP:0001300	Parkinsonism	1201	CLN3	OMIM:204200
HP:0001300	Parkinsonism	23230	VPS13A	ORPHA:2388
HP:0001300	Parkinsonism	23230	VPS13A	OMIM:200150
HP:0001300	Parkinsonism	8398	PLA2G6	OMIM:612953
HP:0001300	Parkinsonism	9907	AP5Z1	OMIM:613647
HP:0001300	Parkinsonism	9907	AP5Z1	ORPHA:306511
HP:0001300	Parkinsonism	57338	JPH3	ORPHA:98934
HP:0001300	Parkinsonism	6908	TBP	OMIM:607136
HP:0001300	Parkinsonism	6908	TBP	ORPHA:98759
HP:0001300	Parkinsonism	6908	TBP	OMIM:168600
HP:0001300	Parkinsonism	5092	PCBD1	ORPHA:1578
HP:0001300	Parkinsonism	2512	FTL	OMIM:606159
HP:0001300	Parkinsonism	2512	FTL	ORPHA:157846
HP:0001300	Parkinsonism	65018	PINK1	OMIM:605909
HP:0001300	Parkinsonism	58494	JAM2	OMIM:618824
HP:0001300	Parkinsonism	1593	CYP27A1	ORPHA:909
HP:0001300	Parkinsonism	2643	GCH1	ORPHA:98808
HP:0001300	Parkinsonism	4929	NR4A2	ORPHA:98808
HP:0001300	Parkinsonism	4929	NR4A2	OMIM:619911
HP:0001300	Parkinsonism	4929	NR4A2	OMIM:168600
HP:0001300	Parkinsonism	3615	IMPDH2	ORPHA:98808
HP:0001300	Parkinsonism	391356	PTRHD1	OMIM:620747
HP:0001300	Parkinsonism	10846	PDE10A	OMIM:616922
HP:0001300	Parkinsonism	6335	SCN9A	ORPHA:33069
HP:0001300	Parkinsonism	6326	SCN2A	ORPHA:33069
HP:0001300	Parkinsonism	2554	GABRA1	ORPHA:33069
HP:0001300	Parkinsonism	6323	SCN1A	ORPHA:33069
HP:0001300	Parkinsonism	6324	SCN1B	ORPHA:33069
HP:0001300	Parkinsonism	57526	PCDH19	ORPHA:33069
HP:0001300	Parkinsonism	2566	GABRG2	ORPHA:33069
HP:0001300	Parkinsonism	203228	C9orf72	OMIM:105550
HP:0001300	Parkinsonism	80025	PANK2	OMIM:234200
HP:0001300	Parkinsonism	80025	PANK2	ORPHA:216873
HP:0001300	Parkinsonism	2896	GRN	OMIM:607485
HP:0001300	Parkinsonism	2896	GRN	ORPHA:100070
HP:0001300	Parkinsonism	10280	SIGMAR1	ORPHA:300605
HP:0001300	Parkinsonism	10558	SPTLC1	ORPHA:300605
HP:0001300	Parkinsonism	57679	ALS2	ORPHA:300605
HP:0001300	Parkinsonism	9213	XPR1	OMIM:616413
HP:0001300	Parkinsonism	1356	CP	ORPHA:48818
HP:0001300	Parkinsonism	57462	MYORG	OMIM:618317
HP:0001300	Parkinsonism	6620	SNCB	OMIM:127750
HP:0001300	Parkinsonism	4854	NOTCH3	ORPHA:136
HP:0001300	Parkinsonism	5663	PSEN1	OMIM:600274
HP:0001300	Parkinsonism	5663	PSEN1	ORPHA:1020
HP:0001300	Parkinsonism	5663	PSEN1	ORPHA:100070
HP:0001300	Parkinsonism	80347	COASY	ORPHA:397725
HP:0001300	Parkinsonism	1436	CSF1R	OMIM:221820
HP:0001300	Parkinsonism	5805	PTS	OMIM:261640
HP:0001300	Parkinsonism	7143	TNR	OMIM:619653
HP:0001300	Parkinsonism	847	CAT	ORPHA:926
HP:0001300	Parkinsonism	5664	PSEN2	ORPHA:1020
HP:0001300	Parkinsonism	10452	TOMM40	ORPHA:1020
HP:0001300	Parkinsonism	54209	TREM2	ORPHA:1020
HP:0001300	Parkinsonism	54209	TREM2	ORPHA:100070
HP:0001300	Parkinsonism	10347	ABCA7	ORPHA:1020
HP:0001300	Parkinsonism	6653	SORL1	ORPHA:1020
HP:0001300	Parkinsonism	80331	DNAJC5	OMIM:162350
HP:0001300	Parkinsonism	3798	KIF5A	ORPHA:100991
HP:0001300	Parkinsonism	3798	KIF5A	OMIM:604187
HP:0001300	Parkinsonism	55532	SLC30A10	OMIM:613280
HP:0001300	Parkinsonism	25793	FBXO7	ORPHA:171695
HP:0001300	Parkinsonism	25793	FBXO7	OMIM:260300
HP:0001300	Parkinsonism	126	ADH1C	OMIM:168600
HP:0001300	Parkinsonism	4576	MT-TT	OMIM:168600
HP:0001300	Parkinsonism	9627	SNCAIP	OMIM:168600
HP:0001300	Parkinsonism	6315	ATXN8OS	OMIM:168600
HP:0001300	Parkinsonism	348	APOE	OMIM:104310
HP:0001300	Parkinsonism	339453	TMEM240	OMIM:607454
HP:0001300	Parkinsonism	950	SCARB2	ORPHA:77259
HP:0001300	Parkinsonism	25978	CHMP2B	ORPHA:100070
HP:0001300	Parkinsonism	54664	TMEM106B	ORPHA:100070
HP:0001300	Parkinsonism	5660	PSAP	OMIM:619491
HP:0001300	Parkinsonism	7384	UQCRC1	OMIM:619279
HP:0001300	Parkinsonism	54832	VPS13C	OMIM:616840
HP:0001300	Parkinsonism	6872	TAF1	ORPHA:53351
HP:0001300	Parkinsonism	6872	TAF1	OMIM:314250
HP:0001300	Parkinsonism	5524	PTPA	OMIM:620482
HP:0001300	Parkinsonism	11315	PARK7	OMIM:606324
HP:0001300	Parkinsonism	7084	TK2	ORPHA:254886
HP:0001300	Parkinsonism	51142	CHCHD2	OMIM:616710
HP:0001300	Parkinsonism	27429	HTRA2	OMIM:610297
HP:0001300	Parkinsonism	7345	UCHL1	OMIM:613643
HP:0001300	Parkinsonism	540	ATP7B	OMIM:277900
HP:0001301	Chronic sensorineural polyneuropathy	340075	ARSI	ORPHA:401815
HP:0001304	Torsion dystonia	103	ADAR	ORPHA:41
HP:0001304	Torsion dystonia	3208	HPCA	OMIM:224500
HP:0001304	Torsion dystonia	3208	HPCA	ORPHA:99657
HP:0001304	Torsion dystonia	6872	TAF1	OMIM:314250
HP:0001304	Torsion dystonia	6872	TAF1	ORPHA:53351
HP:0001304	Torsion dystonia	55145	THAP1	OMIM:602629
HP:0001304	Torsion dystonia	10382	TUBB4A	OMIM:128101
HP:0001304	Torsion dystonia	6513	SLC2A1	ORPHA:98811
HP:0001304	Torsion dystonia	112476	PRRT2	ORPHA:98811
HP:0001304	Torsion dystonia	1861	TOR1A	OMIM:128100
HP:0001305	Dandy-Walker malformation	10682	EBP	ORPHA:401973
HP:0001305	Dandy-Walker malformation	10682	EBP	OMIM:300960
HP:0001305	Dandy-Walker malformation	10682	EBP	OMIM:302960
HP:0001305	Dandy-Walker malformation	56896	DPYSL5	OMIM:619435
HP:0001305	Dandy-Walker malformation	56896	DPYSL5	ORPHA:7
HP:0001305	Dandy-Walker malformation	3265	HRAS	ORPHA:2612
HP:0001305	Dandy-Walker malformation	3845	KRAS	ORPHA:2612
HP:0001305	Dandy-Walker malformation	3845	KRAS	OMIM:609942
HP:0001305	Dandy-Walker malformation	4893	NRAS	ORPHA:2612
HP:0001305	Dandy-Walker malformation	4893	NRAS	OMIM:249400
HP:0001305	Dandy-Walker malformation	23556	PIGN	ORPHA:2059
HP:0001305	Dandy-Walker malformation	7355	SLC35A2	ORPHA:356961
HP:0001305	Dandy-Walker malformation	65062	TMEM237	OMIM:614424
HP:0001305	Dandy-Walker malformation	65062	TMEM237	ORPHA:564
HP:0001305	Dandy-Walker malformation	7545	ZIC1	OMIM:616602
HP:0001305	Dandy-Walker malformation	7545	ZIC1	OMIM:618736
HP:0001305	Dandy-Walker malformation	84942	WDR73	OMIM:251300
HP:0001305	Dandy-Walker malformation	2737	GLI3	ORPHA:36
HP:0001305	Dandy-Walker malformation	374654	KIF7	ORPHA:36
HP:0001305	Dandy-Walker malformation	79848	CSPP1	ORPHA:397715
HP:0001305	Dandy-Walker malformation	79848	CSPP1	ORPHA:564
HP:0001305	Dandy-Walker malformation	9786	KIAA0586	ORPHA:397715
HP:0001305	Dandy-Walker malformation	57465	TBC1D24	OMIM:220500
HP:0001305	Dandy-Walker malformation	57465	TBC1D24	ORPHA:79500
HP:0001305	Dandy-Walker malformation	55112	DYNC2I1	ORPHA:93271
HP:0001305	Dandy-Walker malformation	57560	IFT80	ORPHA:93271
HP:0001305	Dandy-Walker malformation	57539	WDR35	ORPHA:93271
HP:0001305	Dandy-Walker malformation	79659	DYNC2H1	ORPHA:93271
HP:0001305	Dandy-Walker malformation	89891	DYNC2I2	ORPHA:93271
HP:0001305	Dandy-Walker malformation	1436	CSF1R	OMIM:618476
HP:0001305	Dandy-Walker malformation	84162	BLTP1	OMIM:617822
HP:0001305	Dandy-Walker malformation	4081	MAB21L1	OMIM:618479
HP:0001305	Dandy-Walker malformation	4081	MAB21L1	ORPHA:495875
HP:0001305	Dandy-Walker malformation	51259	TMEM216	OMIM:603194
HP:0001305	Dandy-Walker malformation	51259	TMEM216	ORPHA:564
HP:0001305	Dandy-Walker malformation	55636	CHD7	ORPHA:138
HP:0001305	Dandy-Walker malformation	9723	SEMA3E	ORPHA:138
HP:0001305	Dandy-Walker malformation	29954	POMT2	OMIM:236670
HP:0001305	Dandy-Walker malformation	29954	POMT2	ORPHA:899
HP:0001305	Dandy-Walker malformation	79147	FKRP	OMIM:236670
HP:0001305	Dandy-Walker malformation	79147	FKRP	ORPHA:899
HP:0001305	Dandy-Walker malformation	79147	FKRP	OMIM:613153
HP:0001305	Dandy-Walker malformation	2218	FKTN	OMIM:236670
HP:0001305	Dandy-Walker malformation	2218	FKTN	ORPHA:899
HP:0001305	Dandy-Walker malformation	10585	POMT1	OMIM:236670
HP:0001305	Dandy-Walker malformation	10585	POMT1	ORPHA:899
HP:0001305	Dandy-Walker malformation	9215	LARGE1	OMIM:236670
HP:0001305	Dandy-Walker malformation	9215	LARGE1	ORPHA:899
HP:0001305	Dandy-Walker malformation	9215	LARGE1	OMIM:613154
HP:0001305	Dandy-Walker malformation	84892	POMGNT2	ORPHA:899
HP:0001305	Dandy-Walker malformation	148789	B3GALNT2	ORPHA:899
HP:0001305	Dandy-Walker malformation	1282	COL4A1	ORPHA:899
HP:0001305	Dandy-Walker malformation	729920	CRPPA	ORPHA:899
HP:0001305	Dandy-Walker malformation	729920	CRPPA	OMIM:614643
HP:0001305	Dandy-Walker malformation	10329	RXYLT1	ORPHA:899
HP:0001305	Dandy-Walker malformation	1605	DAG1	ORPHA:899
HP:0001305	Dandy-Walker malformation	11041	B4GAT1	ORPHA:899
HP:0001305	Dandy-Walker malformation	11041	B4GAT1	OMIM:615287
HP:0001305	Dandy-Walker malformation	84197	POMK	ORPHA:899
HP:0001305	Dandy-Walker malformation	55624	POMGNT1	ORPHA:899
HP:0001305	Dandy-Walker malformation	79068	FTO	OMIM:612938
HP:0001305	Dandy-Walker malformation	57492	ARID1B	OMIM:135900
HP:0001305	Dandy-Walker malformation	57492	ARID1B	ORPHA:1465
HP:0001305	Dandy-Walker malformation	3899	AFF3	OMIM:619297
HP:0001305	Dandy-Walker malformation	25885	POLR1A	OMIM:616462
HP:0001305	Dandy-Walker malformation	6597	SMARCA4	ORPHA:1465
HP:0001305	Dandy-Walker malformation	6597	SMARCA4	OMIM:614609
HP:0001305	Dandy-Walker malformation	6598	SMARCB1	ORPHA:1465
HP:0001305	Dandy-Walker malformation	6598	SMARCB1	OMIM:614608
HP:0001305	Dandy-Walker malformation	6659	SOX4	ORPHA:1465
HP:0001305	Dandy-Walker malformation	8289	ARID1A	ORPHA:1465
HP:0001305	Dandy-Walker malformation	8289	ARID1A	OMIM:614607
HP:0001305	Dandy-Walker malformation	5977	DPF2	ORPHA:1465
HP:0001305	Dandy-Walker malformation	6601	SMARCC2	ORPHA:1465
HP:0001305	Dandy-Walker malformation	6602	SMARCD1	ORPHA:1465
HP:0001305	Dandy-Walker malformation	196528	ARID2	ORPHA:1465
HP:0001305	Dandy-Walker malformation	6605	SMARCE1	ORPHA:1465
HP:0001305	Dandy-Walker malformation	6605	SMARCE1	OMIM:616938
HP:0001305	Dandy-Walker malformation	6664	SOX11	ORPHA:1465
HP:0001305	Dandy-Walker malformation	23545	ATP6V0A2	ORPHA:2834
HP:0001305	Dandy-Walker malformation	23545	ATP6V0A2	OMIM:219200
HP:0001305	Dandy-Walker malformation	23545	ATP6V0A2	ORPHA:357074
HP:0001305	Dandy-Walker malformation	1801	DPH1	OMIM:616901
HP:0001305	Dandy-Walker malformation	1801	DPH1	ORPHA:459061
HP:0001305	Dandy-Walker malformation	27315	PGAP2	OMIM:614207
HP:0001305	Dandy-Walker malformation	157570	ESCO2	ORPHA:2319
HP:0001305	Dandy-Walker malformation	5340	PLG	ORPHA:722
HP:0001305	Dandy-Walker malformation	5340	PLG	OMIM:217090
HP:0001305	Dandy-Walker malformation	1717	DHCR7	OMIM:270400
HP:0001305	Dandy-Walker malformation	84314	TMEM107	ORPHA:564
HP:0001305	Dandy-Walker malformation	26123	TCTN3	ORPHA:564
HP:0001305	Dandy-Walker malformation	79867	TCTN2	ORPHA:564
HP:0001305	Dandy-Walker malformation	80776	B9D2	ORPHA:564
HP:0001305	Dandy-Walker malformation	80776	B9D2	OMIM:614175
HP:0001305	Dandy-Walker malformation	79600	TCTN1	ORPHA:564
HP:0001305	Dandy-Walker malformation	57096	RPGRIP1	ORPHA:564
HP:0001305	Dandy-Walker malformation	80184	CEP290	ORPHA:564
HP:0001305	Dandy-Walker malformation	80184	CEP290	OMIM:611134
HP:0001305	Dandy-Walker malformation	57545	CC2D2A	ORPHA:564
HP:0001305	Dandy-Walker malformation	79583	TMEM231	ORPHA:564
HP:0001305	Dandy-Walker malformation	91147	TMEM67	ORPHA:564
HP:0001305	Dandy-Walker malformation	91147	TMEM67	OMIM:607361
HP:0001305	Dandy-Walker malformation	79770	TXNDC15	ORPHA:564
HP:0001305	Dandy-Walker malformation	27077	B9D1	ORPHA:564
HP:0001305	Dandy-Walker malformation	23322	RPGRIP1L	ORPHA:564
HP:0001305	Dandy-Walker malformation	54903	MKS1	ORPHA:564
HP:0001305	Dandy-Walker malformation	54903	MKS1	OMIM:249000
HP:0001305	Dandy-Walker malformation	27031	NPHP3	OMIM:267010
HP:0001305	Dandy-Walker malformation	27031	NPHP3	OMIM:208540
HP:0001305	Dandy-Walker malformation	27031	NPHP3	ORPHA:3032
HP:0001305	Dandy-Walker malformation	23258	DENND5A	OMIM:617281
HP:0001305	Dandy-Walker malformation	171023	ASXL1	ORPHA:97297
HP:0001305	Dandy-Walker malformation	171023	ASXL1	OMIM:605039
HP:0001305	Dandy-Walker malformation	9184	BUB3	ORPHA:1052
HP:0001305	Dandy-Walker malformation	699	BUB1	ORPHA:1052
HP:0001305	Dandy-Walker malformation	9702	CEP57	ORPHA:1052
HP:0001305	Dandy-Walker malformation	9319	TRIP13	ORPHA:1052
HP:0001305	Dandy-Walker malformation	701	BUB1B	ORPHA:1052
HP:0001305	Dandy-Walker malformation	701	BUB1B	OMIM:257300
HP:0001305	Dandy-Walker malformation	84342	COG8	OMIM:611182
HP:0001305	Dandy-Walker malformation	84188	FAR1	ORPHA:438178
HP:0001305	Dandy-Walker malformation	84188	FAR1	OMIM:616154
HP:0001305	Dandy-Walker malformation	2260	FGFR1	OMIM:613001
HP:0001305	Dandy-Walker malformation	124997	WDR81	OMIM:617967
HP:0001305	Dandy-Walker malformation	2683	B4GALT1	OMIM:607091
HP:0001305	Dandy-Walker malformation	2683	B4GALT1	ORPHA:79332
HP:0001305	Dandy-Walker malformation	26005	C2CD3	OMIM:615948
HP:0001305	Dandy-Walker malformation	26005	C2CD3	ORPHA:434179
HP:0001305	Dandy-Walker malformation	26227	PHGDH	OMIM:256520
HP:0001305	Dandy-Walker malformation	10804	GJB6	ORPHA:477
HP:0001305	Dandy-Walker malformation	2706	GJB2	ORPHA:477
HP:0001305	Dandy-Walker malformation	55605	KIF21A	ORPHA:994
HP:0001305	Dandy-Walker malformation	4927	NUP88	ORPHA:994
HP:0001305	Dandy-Walker malformation	7846	TUBA1A	ORPHA:994
HP:0001305	Dandy-Walker malformation	4654	MYOD1	ORPHA:994
HP:0001305	Dandy-Walker malformation	54551	MAGEL2	ORPHA:994
HP:0001305	Dandy-Walker malformation	4593	MUSK	ORPHA:994
HP:0001305	Dandy-Walker malformation	5913	RAPSN	ORPHA:994
HP:0001305	Dandy-Walker malformation	6572	SLC18A3	ORPHA:994
HP:0001305	Dandy-Walker malformation	285489	DOK7	ORPHA:994
HP:0001305	Dandy-Walker malformation	23126	POGZ	OMIM:616364
HP:0001305	Dandy-Walker malformation	7737	RNF113A	OMIM:300953
HP:0001305	Dandy-Walker malformation	56006	SMG9	OMIM:616920
HP:0001305	Dandy-Walker malformation	998	CDC42	ORPHA:487796
HP:0001305	Dandy-Walker malformation	51524	TMEM138	OMIM:614465
HP:0001305	Dandy-Walker malformation	8239	USP9X	ORPHA:480880
HP:0001305	Dandy-Walker malformation	8239	USP9X	OMIM:300968
HP:0001305	Dandy-Walker malformation	11128	POLR3A	OMIM:264090
HP:0001305	Dandy-Walker malformation	4534	MTM1	OMIM:310400
HP:0001305	Dandy-Walker malformation	526	ATP6V1B2	ORPHA:79500
HP:0001305	Dandy-Walker malformation	54880	BCOR	OMIM:300166
HP:0001305	Dandy-Walker malformation	203068	TUBB	OMIM:156610
HP:0001305	Dandy-Walker malformation	55640	FLVCR2	OMIM:225790
HP:0001305	Dandy-Walker malformation	28952	CCDC22	OMIM:300963
HP:0001305	Dandy-Walker malformation	28952	CCDC22	ORPHA:7
HP:0001305	Dandy-Walker malformation	1654	DDX3X	ORPHA:3338
HP:0001305	Dandy-Walker malformation	80210	ARMC9	OMIM:617622
HP:0001305	Dandy-Walker malformation	5500	PPP1CB	OMIM:617506
HP:0001305	Dandy-Walker malformation	54676	GTPBP2	OMIM:617988
HP:0001305	Dandy-Walker malformation	5373	PMM2	ORPHA:79318
HP:0001305	Dandy-Walker malformation	63895	PIEZO2	OMIM:248700
HP:0001305	Dandy-Walker malformation	9897	WASHC5	OMIM:220210
HP:0001305	Dandy-Walker malformation	9897	WASHC5	ORPHA:7
HP:0001305	Dandy-Walker malformation	2239	GPC4	ORPHA:373
HP:0001305	Dandy-Walker malformation	2719	GPC3	ORPHA:373
HP:0001305	Dandy-Walker malformation	23007	PLCH1	OMIM:619895
HP:0001305	Dandy-Walker malformation	132884	EVC2	OMIM:225500
HP:0001305	Dandy-Walker malformation	2121	EVC	OMIM:225500
HP:0001305	Dandy-Walker malformation	153241	CEP120	OMIM:616300
HP:0001305	Dandy-Walker malformation	523	ATP6V1A	ORPHA:357074
HP:0001305	Dandy-Walker malformation	529	ATP6V1E1	ORPHA:357074
HP:0001305	Dandy-Walker malformation	3798	KIF5A	OMIM:617235
HP:0001305	Dandy-Walker malformation	1028	CDKN1C	OMIM:130650
HP:0001305	Dandy-Walker malformation	3481	IGF2	OMIM:130650
HP:0001305	Dandy-Walker malformation	3784	KCNQ1	OMIM:130650
HP:0001305	Dandy-Walker malformation	10984	KCNQ1OT1	OMIM:130650
HP:0001305	Dandy-Walker malformation	738	VPS51	OMIM:618606
HP:0001305	Dandy-Walker malformation	1376	CPT2	ORPHA:228305
HP:0001305	Dandy-Walker malformation	10195	ALG3	ORPHA:79321
HP:0001305	Dandy-Walker malformation	8481	OFD1	ORPHA:2750
HP:0001305	Dandy-Walker malformation	219844	HYLS1	OMIM:236680
HP:0001305	Dandy-Walker malformation	57020	VPS35L	ORPHA:7
HP:0001305	Dandy-Walker malformation	4281	MID1	ORPHA:2745
HP:0001305	Dandy-Walker malformation	8905	AP1S2	OMIM:304340
HP:0001305	Dandy-Walker malformation	1802	DPH2	ORPHA:459061
HP:0001308	Tongue fasciculations	9131	AIFM1	ORPHA:238329
HP:0001308	Tongue fasciculations	9131	AIFM1	OMIM:300816
HP:0001308	Tongue fasciculations	11340	EXOSC8	OMIM:616081
HP:0001308	Tongue fasciculations	11340	EXOSC8	ORPHA:2254
HP:0001308	Tongue fasciculations	5393	EXOSC9	OMIM:618065
HP:0001308	Tongue fasciculations	5393	EXOSC9	ORPHA:2254
HP:0001308	Tongue fasciculations	23287	AGTPBP1	ORPHA:2254
HP:0001308	Tongue fasciculations	23287	AGTPBP1	OMIM:618276
HP:0001308	Tongue fasciculations	51010	EXOSC3	ORPHA:2254
HP:0001308	Tongue fasciculations	51010	EXOSC3	OMIM:614678
HP:0001308	Tongue fasciculations	7443	VRK1	ORPHA:2254
HP:0001308	Tongue fasciculations	7443	VRK1	OMIM:607596
HP:0001308	Tongue fasciculations	91137	SLC25A46	ORPHA:2254
HP:0001308	Tongue fasciculations	6606	SMN1	OMIM:271150
HP:0001308	Tongue fasciculations	6606	SMN1	OMIM:253400
HP:0001308	Tongue fasciculations	6606	SMN1	OMIM:253550
HP:0001308	Tongue fasciculations	6606	SMN1	OMIM:253300
HP:0001308	Tongue fasciculations	8087	FXR1	OMIM:618822
HP:0001308	Tongue fasciculations	8087	FXR1	OMIM:618823
HP:0001308	Tongue fasciculations	6607	SMN2	OMIM:253400
HP:0001308	Tongue fasciculations	79581	SLC52A2	OMIM:614707
HP:0001308	Tongue fasciculations	7259	TSPYL1	OMIM:608800
HP:0001308	Tongue fasciculations	10528	NOP56	OMIM:614153
HP:0001308	Tongue fasciculations	10528	NOP56	ORPHA:276198
HP:0001308	Tongue fasciculations	84466	MEGF10	OMIM:614399
HP:0001308	Tongue fasciculations	10558	SPTLC1	OMIM:162400
HP:0001308	Tongue fasciculations	10558	SPTLC1	OMIM:620285
HP:0001308	Tongue fasciculations	427	ASAH1	OMIM:159950
HP:0001308	Tongue fasciculations	6904	TBCD	OMIM:617193
HP:0001308	Tongue fasciculations	23250	ATP11A	OMIM:619851
HP:0001308	Tongue fasciculations	4724	NDUFS4	OMIM:252010
HP:0001308	Tongue fasciculations	7317	UBA1	ORPHA:1145
HP:0001308	Tongue fasciculations	7317	UBA1	OMIM:301830
HP:0001308	Tongue fasciculations	10133	OPTN	OMIM:613435
HP:0001308	Tongue fasciculations	10133	OPTN	ORPHA:803
HP:0001308	Tongue fasciculations	64856	VWA1	OMIM:619216
HP:0001308	Tongue fasciculations	203190	LGI3	OMIM:620007
HP:0001308	Tongue fasciculations	55005	RMND1	OMIM:614922
HP:0001308	Tongue fasciculations	7415	VCP	ORPHA:329475
HP:0001308	Tongue fasciculations	7415	VCP	ORPHA:803
HP:0001308	Tongue fasciculations	114034	TOE1	OMIM:614969
HP:0001308	Tongue fasciculations	25978	CHMP2B	ORPHA:803
HP:0001308	Tongue fasciculations	3178	HNRNPA1	ORPHA:803
HP:0001308	Tongue fasciculations	8148	TAF15	ORPHA:803
HP:0001308	Tongue fasciculations	5445	PON2	ORPHA:803
HP:0001308	Tongue fasciculations	9217	VAPB	ORPHA:803
HP:0001308	Tongue fasciculations	8878	SQSTM1	ORPHA:803
HP:0001308	Tongue fasciculations	5630	PRPH	ORPHA:803
HP:0001308	Tongue fasciculations	29110	TBK1	ORPHA:803
HP:0001308	Tongue fasciculations	55830	GLT8D1	ORPHA:803
HP:0001308	Tongue fasciculations	755	CFAP410	ORPHA:803
HP:0001308	Tongue fasciculations	10891	PPARGC1A	ORPHA:803
HP:0001308	Tongue fasciculations	6647	SOD1	ORPHA:803
HP:0001308	Tongue fasciculations	1639	DCTN1	ORPHA:803
HP:0001308	Tongue fasciculations	9896	FIG4	ORPHA:803
HP:0001308	Tongue fasciculations	5444	PON1	ORPHA:803
HP:0001308	Tongue fasciculations	5446	PON3	ORPHA:803
HP:0001308	Tongue fasciculations	4744	NEFH	ORPHA:803
HP:0001308	Tongue fasciculations	5216	PFN1	ORPHA:803
HP:0001308	Tongue fasciculations	9782	MATR3	ORPHA:803
HP:0001308	Tongue fasciculations	54209	TREM2	ORPHA:803
HP:0001308	Tongue fasciculations	283	ANG	ORPHA:803
HP:0001308	Tongue fasciculations	23435	TARDBP	ORPHA:803
HP:0001308	Tongue fasciculations	29978	UBQLN2	ORPHA:803
HP:0001308	Tongue fasciculations	2733	GLE1	ORPHA:803
HP:0001308	Tongue fasciculations	2521	FUS	ORPHA:803
HP:0001308	Tongue fasciculations	4750	NEK1	ORPHA:803
HP:0001308	Tongue fasciculations	6311	ATXN2	ORPHA:803
HP:0001308	Tongue fasciculations	1610	DAO	ORPHA:803
HP:0001308	Tongue fasciculations	2066	ERBB4	ORPHA:803
HP:0001308	Tongue fasciculations	311	ANXA11	ORPHA:803
HP:0001308	Tongue fasciculations	23025	UNC13A	ORPHA:803
HP:0001308	Tongue fasciculations	899	CCNF	ORPHA:803
HP:0001308	Tongue fasciculations	400916	CHCHD10	ORPHA:803
HP:0001308	Tongue fasciculations	400916	CHCHD10	ORPHA:276435
HP:0001308	Tongue fasciculations	773	CACNA1A	ORPHA:569
HP:0001308	Tongue fasciculations	112476	PRRT2	ORPHA:569
HP:0001308	Tongue fasciculations	6323	SCN1A	ORPHA:569
HP:0001308	Tongue fasciculations	477	ATP1A2	ORPHA:569
HP:0001308	Tongue fasciculations	79628	SH3TC2	OMIM:601596
HP:0001308	Tongue fasciculations	79628	SH3TC2	ORPHA:99949
HP:0001308	Tongue fasciculations	54936	ADPRS	OMIM:618170
HP:0001308	Tongue fasciculations	127833	SYT2	OMIM:619461
HP:0001308	Tongue fasciculations	51305	KCNK9	ORPHA:166108
HP:0001308	Tongue fasciculations	58497	PRUNE1	ORPHA:544469
HP:0001308	Tongue fasciculations	89874	SLC25A21	OMIM:618811
HP:0001308	Tongue fasciculations	5376	PMP22	OMIM:145900
HP:0001308	Tongue fasciculations	4359	MPZ	OMIM:145900
HP:0001308	Tongue fasciculations	1959	EGR2	OMIM:145900
HP:0001308	Tongue fasciculations	57716	PRX	OMIM:145900
HP:0001308	Tongue fasciculations	113278	SLC52A3	OMIM:211530
HP:0025390	Reticular pattern on pulmonary HRCT	7015	TERT	OMIM:614742
HP:0025390	Reticular pattern on pulmonary HRCT	7015	TERT	ORPHA:2032
HP:0025390	Reticular pattern on pulmonary HRCT	6440	SFTPC	ORPHA:2032
HP:0025390	Reticular pattern on pulmonary HRCT	729238	SFTPA2	ORPHA:2032
HP:0025390	Reticular pattern on pulmonary HRCT	79991	STN1	ORPHA:2032
HP:0025390	Reticular pattern on pulmonary HRCT	653509	SFTPA1	ORPHA:2032
HP:0025390	Reticular pattern on pulmonary HRCT	21	ABCA3	ORPHA:2032
HP:0025390	Reticular pattern on pulmonary HRCT	21	ABCA3	OMIM:610921
HP:0025390	Reticular pattern on pulmonary HRCT	1832	DSP	ORPHA:2032
HP:0025390	Reticular pattern on pulmonary HRCT	727897	MUC5B	ORPHA:2032
HP:0025390	Reticular pattern on pulmonary HRCT	10144	FAM13A	ORPHA:2032
HP:0025390	Reticular pattern on pulmonary HRCT	23250	ATP11A	ORPHA:2032
HP:0025390	Reticular pattern on pulmonary HRCT	91039	DPP9	ORPHA:2032
HP:0025390	Reticular pattern on pulmonary HRCT	51750	RTEL1	ORPHA:2032
HP:0025390	Reticular pattern on pulmonary HRCT	7012	TERC	ORPHA:2032
HP:0025390	Reticular pattern on pulmonary HRCT	5073	PARN	ORPHA:2032
HP:0025392	Nodular pattern on pulmonary HRCT	1281	COL3A1	OMIM:130050
HP:0025392	Nodular pattern on pulmonary HRCT	427	ASAH1	ORPHA:333
HP:0025392	Nodular pattern on pulmonary HRCT	21	ABCA3	OMIM:610921
HP:0025393	Reticulonodular pattern on pulmonary HRCT	3115	HLA-DPB1	ORPHA:133
HP:0025394	Cystic pattern on pulmonary HRCT	21	ABCA3	OMIM:610921
HP:0025394	Cystic pattern on pulmonary HRCT	7080	NKX2-1	OMIM:610978
HP:0025394	Cystic pattern on pulmonary HRCT	6440	SFTPC	OMIM:610913
HP:0025395	Combined cystic and ground-glass pattern on pulmonary HRCT	1281	COL3A1	OMIM:130050
HP:0030692	Brain neoplasm	5925	RB1	OMIM:180200
HP:0030692	Brain neoplasm	324	APC	ORPHA:99818
HP:0030692	Brain neoplasm	324	APC	ORPHA:79665
HP:0030692	Brain neoplasm	5426	POLE	ORPHA:447877
HP:0030692	Brain neoplasm	5424	POLD1	ORPHA:447877
HP:0030692	Brain neoplasm	4763	NF1	ORPHA:97685
HP:0030692	Brain neoplasm	2313	FLI1	ORPHA:370348
HP:0030692	Brain neoplasm	7373	COL14A1	ORPHA:79501
HP:0030692	Brain neoplasm	79719	AAGAB	ORPHA:79501
HP:0030692	Brain neoplasm	25978	CHMP2B	ORPHA:100070
HP:0030692	Brain neoplasm	5663	PSEN1	ORPHA:100070
HP:0030692	Brain neoplasm	2896	GRN	ORPHA:100070
HP:0030692	Brain neoplasm	54664	TMEM106B	ORPHA:100070
HP:0030692	Brain neoplasm	4137	MAPT	ORPHA:100070
HP:0030692	Brain neoplasm	54209	TREM2	ORPHA:100070
HP:0030692	Brain neoplasm	7415	VCP	ORPHA:100070
HP:0030692	Brain neoplasm	65998	ZFTA	ORPHA:251636
HP:0030691	Divergence nystagmus	80055	PGAP1	OMIM:615802
HP:0030690	Gingival cleft	219844	HYLS1	ORPHA:2189
HP:0030690	Gingival cleft	374654	KIF7	ORPHA:2189
HP:0030690	Gingival cleft	4089	SMAD4	ORPHA:2588
HP:0030693	Supratentorial neoplasm	5925	RB1	OMIM:180200
HP:0030693	Supratentorial neoplasm	65998	ZFTA	ORPHA:251636
HP:0004566	Pear-shaped vertebrae	2137	EXTL3	OMIM:617425
HP:0004566	Pear-shaped vertebrae	4322	MMP13	OMIM:602111
HP:0004566	Pear-shaped vertebrae	4322	MMP13	ORPHA:93356
HP:0004565	Severe platyspondyly	2137	EXTL3	ORPHA:508533
HP:0004565	Severe platyspondyly	51025	PAM16	OMIM:613320
HP:0004565	Severe platyspondyly	23187	PHLDB1	OMIM:620639
HP:0004565	Severe platyspondyly	2261	FGFR3	OMIM:187600
HP:0004565	Severe platyspondyly	2261	FGFR3	OMIM:100800
HP:0004565	Severe platyspondyly	3636	INPPL1	OMIM:258480
HP:0004565	Severe platyspondyly	5130	PCYT1A	OMIM:608940
HP:0004565	Severe platyspondyly	4041	LRP5	OMIM:259770
HP:0004565	Severe platyspondyly	1280	COL2A1	OMIM:151210
HP:0004563	Increased spinal bone density	7415	VCP	ORPHA:329475
HP:0004562	Beaking of vertebral bodies T12-L3	2720	GLB1	ORPHA:79255
HP:0004562	Beaking of vertebral bodies T12-L3	79158	GNPTAB	OMIM:252500
HP:0004562	Beaking of vertebral bodies T12-L3	4763	NF1	ORPHA:97685
HP:0001310	Dysmetria	10749	KIF1C	ORPHA:397946
HP:0001310	Dysmetria	10749	KIF1C	OMIM:611302
HP:0001310	Dysmetria	10128	LRPPRC	OMIM:220111
HP:0001310	Dysmetria	773	CACNA1A	OMIM:183086
HP:0001310	Dysmetria	23646	PLD3	OMIM:617770
HP:0001310	Dysmetria	55703	POLR3B	OMIM:614381
HP:0001310	Dysmetria	55703	POLR3B	OMIM:607694
HP:0001310	Dysmetria	4099	MAG	OMIM:616680
HP:0001310	Dysmetria	4099	MAG	ORPHA:459056
HP:0001310	Dysmetria	91452	ACBD5	OMIM:618863
HP:0001310	Dysmetria	9853	RUSC2	OMIM:617773
HP:0001310	Dysmetria	2895	GRID2	OMIM:616204
HP:0001310	Dysmetria	9254	CACNA2D2	OMIM:618501
HP:0001310	Dysmetria	5457	POU4F1	ORPHA:314647
HP:0001310	Dysmetria	5457	POU4F1	OMIM:619352
HP:0001310	Dysmetria	23261	CAMTA1	ORPHA:314647
HP:0001310	Dysmetria	23261	CAMTA1	OMIM:614756
HP:0001310	Dysmetria	4758	NEU1	OMIM:256550
HP:0001310	Dysmetria	4758	NEU1	ORPHA:93399
HP:0001310	Dysmetria	4758	NEU1	ORPHA:93400
HP:0001310	Dysmetria	10159	ATP6AP2	ORPHA:93952
HP:0001310	Dysmetria	5428	POLG	ORPHA:94125
HP:0001310	Dysmetria	5428	POLG	OMIM:607459
HP:0001310	Dysmetria	5428	POLG	ORPHA:254881
HP:0001310	Dysmetria	5521	PPP2R2B	OMIM:604326
HP:0001310	Dysmetria	6311	ATXN2	OMIM:183090
HP:0001310	Dysmetria	5917	RARS1	ORPHA:438114
HP:0001310	Dysmetria	5917	RARS1	OMIM:616140
HP:0001310	Dysmetria	2670	GFAP	OMIM:203450
HP:0001310	Dysmetria	10730	YME1L1	OMIM:617302
HP:0001310	Dysmetria	8309	ACOX2	OMIM:617308
HP:0001310	Dysmetria	2911	GRM1	OMIM:614831
HP:0001310	Dysmetria	2911	GRM1	OMIM:617691
HP:0001310	Dysmetria	2911	GRM1	ORPHA:324262
HP:0001310	Dysmetria	547	KIF1A	OMIM:610357
HP:0001310	Dysmetria	55780	ERMARD	ORPHA:75857
HP:0001310	Dysmetria	219285	SAMD9L	OMIM:159550
HP:0001310	Dysmetria	219285	SAMD9L	OMIM:619806
HP:0001310	Dysmetria	9289	ADGRG1	OMIM:606854
HP:0001310	Dysmetria	9289	ADGRG1	ORPHA:98889
HP:0001310	Dysmetria	7345	UCHL1	OMIM:615491
HP:0001310	Dysmetria	55154	MSTO1	OMIM:617675
HP:0001310	Dysmetria	55154	MSTO1	ORPHA:502423
HP:0001310	Dysmetria	8913	CACNA1G	OMIM:618087
HP:0001310	Dysmetria	215	ABCD1	ORPHA:139396
HP:0001310	Dysmetria	64207	IRF2BPL	OMIM:618088
HP:0001310	Dysmetria	64834	ELOVL1	OMIM:618527
HP:0001310	Dysmetria	7436	VLDLR	OMIM:224050
HP:0001310	Dysmetria	5173	PDYN	OMIM:610245
HP:0001310	Dysmetria	5173	PDYN	ORPHA:101108
HP:0001310	Dysmetria	8560	DEGS1	OMIM:618404
HP:0001310	Dysmetria	10939	AFG3L2	ORPHA:313772
HP:0001310	Dysmetria	10939	AFG3L2	OMIM:614487
HP:0001310	Dysmetria	2332	FMR1	ORPHA:93256
HP:0001310	Dysmetria	2332	FMR1	OMIM:300623
HP:0001310	Dysmetria	823	CAPN1	OMIM:616907
HP:0001310	Dysmetria	10273	STUB1	OMIM:618093
HP:0001310	Dysmetria	22	ABCB7	OMIM:301310
HP:0001310	Dysmetria	22	ABCB7	ORPHA:2802
HP:0001310	Dysmetria	343641	TGM6	ORPHA:276193
HP:0001310	Dysmetria	343641	TGM6	OMIM:613908
HP:0001310	Dysmetria	5621	PRNP	OMIM:603218
HP:0001310	Dysmetria	5621	PRNP	ORPHA:157941
HP:0001310	Dysmetria	7274	TTPA	ORPHA:96
HP:0001310	Dysmetria	7274	TTPA	OMIM:277460
HP:0001310	Dysmetria	857	CAV1	OMIM:606721
HP:0001310	Dysmetria	6687	SPG7	OMIM:607259
HP:0001310	Dysmetria	80856	LNPK	OMIM:618090
HP:0001310	Dysmetria	26278	SACS	ORPHA:98
HP:0001310	Dysmetria	26278	SACS	OMIM:270550
HP:0001310	Dysmetria	51651	PTRH2	ORPHA:456312
HP:0001310	Dysmetria	51651	PTRH2	OMIM:616263
HP:0001310	Dysmetria	23203	PMPCA	ORPHA:1170
HP:0001310	Dysmetria	23203	PMPCA	OMIM:213200
HP:0001310	Dysmetria	6712	SPTBN2	OMIM:615386
HP:0001310	Dysmetria	6712	SPTBN2	ORPHA:352403
HP:0001310	Dysmetria	6712	SPTBN2	OMIM:600224
HP:0001310	Dysmetria	7156	TOP3A	OMIM:618098
HP:0001310	Dysmetria	246243	RNASEH1	OMIM:616479
HP:0001310	Dysmetria	26090	ABHD12	OMIM:612674
HP:0001310	Dysmetria	10352	WARS2	ORPHA:572798
HP:0001310	Dysmetria	10352	WARS2	OMIM:617710
HP:0001310	Dysmetria	2705	GJB1	ORPHA:1175
HP:0001310	Dysmetria	2705	GJB1	OMIM:302800
HP:0001310	Dysmetria	144165	PRICKLE1	OMIM:612437
HP:0001310	Dysmetria	9907	AP5Z1	OMIM:613647
HP:0001310	Dysmetria	79152	FA2H	OMIM:612319
HP:0001310	Dysmetria	79152	FA2H	ORPHA:171629
HP:0001310	Dysmetria	2395	FXN	ORPHA:95
HP:0001310	Dysmetria	6908	TBP	OMIM:607136
HP:0001310	Dysmetria	10528	NOP56	ORPHA:276198
HP:0001310	Dysmetria	5373	PMM2	OMIM:212065
HP:0001310	Dysmetria	477	ATP1A2	OMIM:602481
HP:0001310	Dysmetria	3475	IFRD1	ORPHA:98771
HP:0001310	Dysmetria	84138	SLC7A6OS	OMIM:619191
HP:0001310	Dysmetria	253738	EBF3	OMIM:617330
HP:0001310	Dysmetria	55768	NGLY1	OMIM:615273
HP:0001310	Dysmetria	9895	TECPR2	OMIM:615031
HP:0001310	Dysmetria	9895	TECPR2	ORPHA:320385
HP:0001310	Dysmetria	55280	CWF19L1	OMIM:616127
HP:0001310	Dysmetria	55280	CWF19L1	ORPHA:453521
HP:0001310	Dysmetria	54902	TTC19	OMIM:615157
HP:0001310	Dysmetria	5828	PEX2	OMIM:614867
HP:0001310	Dysmetria	6804	STX1A	ORPHA:904
HP:0001310	Dysmetria	7461	CLIP2	ORPHA:904
HP:0001310	Dysmetria	84277	DNAJC30	ORPHA:904
HP:0001310	Dysmetria	8468	FKBP6	ORPHA:904
HP:0001310	Dysmetria	5982	RFC2	ORPHA:904
HP:0001310	Dysmetria	2969	GTF2I	ORPHA:904
HP:0001310	Dysmetria	3984	LIMK1	ORPHA:904
HP:0001310	Dysmetria	9569	GTF2IRD1	ORPHA:904
HP:0001310	Dysmetria	155382	VPS37D	ORPHA:904
HP:0001310	Dysmetria	155368	METTL27	ORPHA:904
HP:0001310	Dysmetria	114049	BUD23	ORPHA:904
HP:0001310	Dysmetria	7458	EIF4H	ORPHA:904
HP:0001310	Dysmetria	84163	GTF2IRD2	ORPHA:904
HP:0001310	Dysmetria	26608	TBL2	ORPHA:904
HP:0001310	Dysmetria	653361	NCF1	ORPHA:904
HP:0001310	Dysmetria	135886	TMEM270	ORPHA:904
HP:0001310	Dysmetria	9031	BAZ1B	ORPHA:904
HP:0001310	Dysmetria	2006	ELN	ORPHA:904
HP:0001310	Dysmetria	5297	PI4KA	ORPHA:98889
HP:0001310	Dysmetria	5297	PI4KA	OMIM:619708
HP:0001310	Dysmetria	27286	SRPX2	ORPHA:98889
HP:0001310	Dysmetria	11128	POLR3A	ORPHA:447896
HP:0001310	Dysmetria	11128	POLR3A	OMIM:607694
HP:0001310	Dysmetria	23137	SMC5	OMIM:620185
HP:0001310	Dysmetria	1822	ATN1	ORPHA:101
HP:0001310	Dysmetria	25814	ATXN10	ORPHA:98761
HP:0001310	Dysmetria	25814	ATXN10	OMIM:603516
HP:0001310	Dysmetria	8733	GPAA1	ORPHA:529665
HP:0001310	Dysmetria	8733	GPAA1	OMIM:617810
HP:0001310	Dysmetria	9474	ATG5	OMIM:617584
HP:0001310	Dysmetria	59336	PRDM13	OMIM:619761
HP:0001310	Dysmetria	9409	PEX16	OMIM:614877
HP:0001310	Dysmetria	3708	ITPR1	OMIM:117360
HP:0001310	Dysmetria	3708	ITPR1	ORPHA:208513
HP:0001310	Dysmetria	10531	PITRM1	OMIM:619405
HP:0001310	Dysmetria	57462	MYORG	OMIM:618317
HP:0001310	Dysmetria	11261	CHP1	OMIM:618438
HP:0001310	Dysmetria	6310	ATXN1	ORPHA:98755
HP:0001310	Dysmetria	6310	ATXN1	OMIM:164400
HP:0001310	Dysmetria	55129	ANO10	ORPHA:284289
HP:0001310	Dysmetria	55129	ANO10	OMIM:613728
HP:0001310	Dysmetria	5981	RFC1	ORPHA:504476
HP:0001310	Dysmetria	9725	TMEM63A	OMIM:618688
HP:0001310	Dysmetria	1384	CRAT	OMIM:617917
HP:0001310	Dysmetria	200403	VWA3B	OMIM:616948
HP:0001310	Dysmetria	85021	REPS1	OMIM:617916
HP:0001310	Dysmetria	6314	ATXN7	ORPHA:94147
HP:0001310	Dysmetria	6314	ATXN7	OMIM:164500
HP:0001310	Dysmetria	5654	HTRA1	OMIM:600142
HP:0001310	Dysmetria	56652	TWNK	OMIM:607459
HP:0001310	Dysmetria	3980	LIG3	OMIM:619780
HP:0001310	Dysmetria	51117	COQ4	OMIM:616276
HP:0001310	Dysmetria	2583	B4GALNT1	OMIM:609195
HP:0001310	Dysmetria	57165	GJC2	OMIM:613206
HP:0001310	Dysmetria	4976	OPA1	OMIM:210000
HP:0001310	Dysmetria	4001	LMNB1	ORPHA:99027
HP:0001310	Dysmetria	23111	SPART	OMIM:275900
HP:0001310	Dysmetria	92935	MARS2	OMIM:611390
HP:0001310	Dysmetria	92935	MARS2	ORPHA:314603
HP:0001310	Dysmetria	23345	SYNE1	ORPHA:88644
HP:0001310	Dysmetria	23345	SYNE1	OMIM:610743
HP:0001310	Dysmetria	124997	WDR81	OMIM:610185
HP:0001310	Dysmetria	9698	PUM1	OMIM:617931
HP:0001310	Dysmetria	2495	FTH1	OMIM:620669
HP:0001310	Dysmetria	6334	SCN8A	OMIM:614306
HP:0001310	Dysmetria	4967	OGDH	OMIM:203740
HP:0001310	Dysmetria	6548	SLC9A1	OMIM:616291
HP:0001310	Dysmetria	3712	IVD	ORPHA:33
HP:0001310	Dysmetria	91942	NDUFAF2	OMIM:618233
HP:0001310	Dysmetria	440193	CCDC88C	OMIM:616053
HP:0001310	Dysmetria	440193	CCDC88C	ORPHA:423275
HP:0001310	Dysmetria	478	ATP1A3	OMIM:601338
HP:0001310	Dysmetria	23114	NFASC	OMIM:618356
HP:0001310	Dysmetria	8878	SQSTM1	OMIM:617145
HP:0001310	Dysmetria	10157	AASS	ORPHA:2203
HP:0001310	Dysmetria	10166	SLC25A15	OMIM:238970
HP:0001310	Dysmetria	56915	EXOSC5	OMIM:619576
HP:0001310	Dysmetria	9512	PMPCB	OMIM:617954
HP:0001310	Dysmetria	91137	SLC25A46	OMIM:616505
HP:0001310	Dysmetria	4361	MRE11	OMIM:604391
HP:0001310	Dysmetria	4361	MRE11	ORPHA:251347
HP:0001310	Dysmetria	5582	PRKCG	OMIM:605361
HP:0001310	Dysmetria	4547	MTTP	ORPHA:14
HP:0001310	Dysmetria	84342	COG8	OMIM:611182
HP:0001310	Dysmetria	51300	TIMMDC1	OMIM:618251
HP:0001310	Dysmetria	54664	TMEM106B	OMIM:617964
HP:0001310	Dysmetria	8884	SLC5A6	OMIM:619903
HP:0001310	Dysmetria	1200	TPP1	OMIM:609270
HP:0001310	Dysmetria	1200	TPP1	ORPHA:284324
HP:0001310	Dysmetria	9256	TSPOAP1	OMIM:620453
HP:0001310	Dysmetria	9997	SCO2	OMIM:604377
HP:0001310	Dysmetria	65260	COA7	OMIM:618387
HP:0001310	Dysmetria	9150	CTDP1	ORPHA:48431
HP:0001310	Dysmetria	8270	LAGE3	OMIM:301006
HP:0001310	Dysmetria	64849	SLC13A3	OMIM:618384
HP:0001310	Dysmetria	131669	UROC1	OMIM:276880
HP:0001310	Dysmetria	6472	SHMT2	OMIM:619121
HP:0001310	Dysmetria	79867	TCTN2	OMIM:616654
HP:0001310	Dysmetria	54676	GTPBP2	OMIM:617988
HP:0001310	Dysmetria	7518	XRCC4	OMIM:616541
HP:0001310	Dysmetria	1203	CLN5	OMIM:256731
HP:0001310	Dysmetria	119559	SFXN4	OMIM:615578
HP:0001310	Dysmetria	7515	XRCC1	OMIM:617633
HP:0001310	Dysmetria	8481	OFD1	OMIM:300804
HP:0001310	Dysmetria	23533	PIK3R5	OMIM:615217
HP:0001310	Dysmetria	5354	PLP1	OMIM:312920
HP:0001310	Dysmetria	54936	ADPRS	OMIM:618170
HP:0001310	Dysmetria	84274	COQ5	OMIM:619028
HP:0001310	Dysmetria	221927	BRAT1	OMIM:618056
HP:0001310	Dysmetria	8398	PLA2G6	OMIM:610217
HP:0001310	Dysmetria	26275	HIBCH	OMIM:250620
HP:0001310	Dysmetria	50640	PNPLA8	OMIM:251950
HP:0001310	Dysmetria	9420	CYP7B1	OMIM:270800
HP:0001310	Dysmetria	463	ZFHX3	OMIM:600223
HP:0001310	Dysmetria	3748	KCNC3	OMIM:605259
HP:0001310	Dysmetria	9897	WASHC5	ORPHA:100989
HP:0001310	Dysmetria	1600	DAB1	ORPHA:363710
HP:0001310	Dysmetria	50484	RRM2B	ORPHA:329336
HP:0001310	Dysmetria	6575	SLC20A2	OMIM:213600
HP:0001310	Dysmetria	5159	PDGFRB	OMIM:213600
HP:0001310	Dysmetria	5155	PDGFB	OMIM:213600
HP:0001310	Dysmetria	57704	GBA2	OMIM:614409
HP:0001310	Dysmetria	4763	NF1	ORPHA:363700
HP:0001312	Giant somatosensory evoked potentials	401474	SAMD12	OMIM:601068
HP:0001312	Giant somatosensory evoked potentials	56910	STARD7	OMIM:607876
HP:0001312	Giant somatosensory evoked potentials	10501	SEMA6B	OMIM:618876
HP:0001312	Giant somatosensory evoked potentials	378884	NHLRC1	ORPHA:501
HP:0001312	Giant somatosensory evoked potentials	7957	EPM2A	ORPHA:501
HP:0001312	Giant somatosensory evoked potentials	10299	MARCHF6	OMIM:613608
HP:0001315	Reduced tendon reflexes	2137	EXTL3	ORPHA:508533
HP:0001315	Reduced tendon reflexes	8518	ELP1	ORPHA:1764
HP:0001315	Reduced tendon reflexes	8518	ELP1	OMIM:223900
HP:0001315	Reduced tendon reflexes	3145	HMBS	OMIM:620704
HP:0001315	Reduced tendon reflexes	19	ABCA1	OMIM:205400
HP:0001315	Reduced tendon reflexes	2731	GLDC	OMIM:605899
HP:0001315	Reduced tendon reflexes	4535	MT-ND1	ORPHA:255210
HP:0001315	Reduced tendon reflexes	4536	MT-ND2	ORPHA:255210
HP:0001315	Reduced tendon reflexes	4537	MT-ND3	ORPHA:255210
HP:0001315	Reduced tendon reflexes	4538	MT-ND4	ORPHA:255210
HP:0001315	Reduced tendon reflexes	4578	MT-TW	ORPHA:255210
HP:0001315	Reduced tendon reflexes	4577	MT-TV	ORPHA:255210
HP:0001315	Reduced tendon reflexes	4508	MT-ATP6	ORPHA:255210
HP:0001315	Reduced tendon reflexes	4540	MT-ND5	ORPHA:255210
HP:0001315	Reduced tendon reflexes	4541	MT-ND6	ORPHA:255210
HP:0001315	Reduced tendon reflexes	4566	MT-TK	ORPHA:255210
HP:0001315	Reduced tendon reflexes	65082	VPS33A	OMIM:617303
HP:0001315	Reduced tendon reflexes	65082	VPS33A	ORPHA:505248
HP:0001315	Reduced tendon reflexes	84466	MEGF10	OMIM:614399
HP:0001315	Reduced tendon reflexes	10908	PNPLA6	OMIM:275400
HP:0001315	Reduced tendon reflexes	10908	PNPLA6	OMIM:215470
HP:0001315	Reduced tendon reflexes	3508	IGHMBP2	OMIM:604320
HP:0001315	Reduced tendon reflexes	3508	IGHMBP2	OMIM:616155
HP:0001315	Reduced tendon reflexes	55768	NGLY1	ORPHA:404454
HP:0001315	Reduced tendon reflexes	55768	NGLY1	OMIM:615273
HP:0001315	Reduced tendon reflexes	81846	SBF2	OMIM:604563
HP:0001315	Reduced tendon reflexes	79158	GNPTAB	OMIM:252500
HP:0001315	Reduced tendon reflexes	57231	SNX14	ORPHA:397709
HP:0001315	Reduced tendon reflexes	57231	SNX14	OMIM:616354
HP:0001315	Reduced tendon reflexes	100996717	NOTCH2NLC	OMIM:603472
HP:0001315	Reduced tendon reflexes	100996717	NOTCH2NLC	OMIM:619473
HP:0001315	Reduced tendon reflexes	7253	TSHR	ORPHA:90673
HP:0001315	Reduced tendon reflexes	4625	MYH7	OMIM:160500
HP:0001315	Reduced tendon reflexes	7252	TSHB	ORPHA:90674
HP:0001315	Reduced tendon reflexes	410	ARSA	ORPHA:309271
HP:0001315	Reduced tendon reflexes	410	ARSA	ORPHA:309263
HP:0001315	Reduced tendon reflexes	410	ARSA	OMIM:250100
HP:0001315	Reduced tendon reflexes	410	ARSA	ORPHA:309256
HP:0001315	Reduced tendon reflexes	5660	PSAP	ORPHA:309271
HP:0001315	Reduced tendon reflexes	5660	PSAP	ORPHA:309263
HP:0001315	Reduced tendon reflexes	5660	PSAP	OMIM:611722
HP:0001315	Reduced tendon reflexes	5660	PSAP	ORPHA:309256
HP:0001315	Reduced tendon reflexes	5660	PSAP	ORPHA:206436
HP:0001315	Reduced tendon reflexes	5660	PSAP	OMIM:249900
HP:0001315	Reduced tendon reflexes	10559	SLC35A1	OMIM:603585
HP:0001315	Reduced tendon reflexes	60482	SLC5A7	OMIM:158580
HP:0001315	Reduced tendon reflexes	60482	SLC5A7	ORPHA:98914
HP:0001315	Reduced tendon reflexes	4358	MPV17	OMIM:618400
HP:0001315	Reduced tendon reflexes	4358	MPV17	OMIM:256810
HP:0001315	Reduced tendon reflexes	55154	MSTO1	OMIM:617675
HP:0001315	Reduced tendon reflexes	55154	MSTO1	ORPHA:502423
HP:0001315	Reduced tendon reflexes	9698	PUM1	OMIM:620719
HP:0001315	Reduced tendon reflexes	311	ANXA11	OMIM:619733
HP:0001315	Reduced tendon reflexes	55149	MTPAP	ORPHA:254343
HP:0001315	Reduced tendon reflexes	55703	POLR3B	OMIM:619742
HP:0001315	Reduced tendon reflexes	83636	C19orf12	OMIM:614298
HP:0001315	Reduced tendon reflexes	83636	C19orf12	OMIM:615043
HP:0001315	Reduced tendon reflexes	2903	GRIN2A	ORPHA:289266
HP:0001315	Reduced tendon reflexes	54872	PIGG	ORPHA:488635
HP:0001315	Reduced tendon reflexes	54872	PIGG	OMIM:616917
HP:0001315	Reduced tendon reflexes	246243	RNASEH1	OMIM:616479
HP:0001315	Reduced tendon reflexes	55526	DHTKD1	OMIM:615025
HP:0001315	Reduced tendon reflexes	54840	APTX	OMIM:208920
HP:0001315	Reduced tendon reflexes	79731	NARS2	OMIM:616239
HP:0001315	Reduced tendon reflexes	5373	PMM2	OMIM:212065
HP:0001315	Reduced tendon reflexes	5373	PMM2	ORPHA:79318
HP:0001315	Reduced tendon reflexes	2313	FLI1	ORPHA:370348
HP:0001315	Reduced tendon reflexes	5376	PMP22	ORPHA:101081
HP:0001315	Reduced tendon reflexes	5376	PMP22	ORPHA:640
HP:0001315	Reduced tendon reflexes	5376	PMP22	OMIM:118300
HP:0001315	Reduced tendon reflexes	5376	PMP22	OMIM:180800
HP:0001315	Reduced tendon reflexes	5376	PMP22	OMIM:118220
HP:0001315	Reduced tendon reflexes	5376	PMP22	OMIM:145900
HP:0001315	Reduced tendon reflexes	5376	PMP22	OMIM:162500
HP:0001315	Reduced tendon reflexes	5376	PMP22	ORPHA:98916
HP:0001315	Reduced tendon reflexes	59341	TRPV4	OMIM:600175
HP:0001315	Reduced tendon reflexes	59341	TRPV4	OMIM:181405
HP:0001315	Reduced tendon reflexes	59341	TRPV4	OMIM:606071
HP:0001315	Reduced tendon reflexes	1187	CLCNKA	OMIM:613090
HP:0001315	Reduced tendon reflexes	1188	CLCNKB	OMIM:613090
HP:0001315	Reduced tendon reflexes	55773	TBC1D23	OMIM:617695
HP:0001315	Reduced tendon reflexes	2318	FLNC	OMIM:614065
HP:0001315	Reduced tendon reflexes	55699	IARS2	OMIM:616007
HP:0001315	Reduced tendon reflexes	59335	PRDM12	OMIM:616488
HP:0001315	Reduced tendon reflexes	4191	MDH2	OMIM:617339
HP:0001315	Reduced tendon reflexes	100134444	KCNJ18	ORPHA:79102
HP:0001315	Reduced tendon reflexes	100134444	KCNJ18	OMIM:613239
HP:0001315	Reduced tendon reflexes	2556	GABRA3	ORPHA:79102
HP:0001315	Reduced tendon reflexes	6606	SMN1	OMIM:253400
HP:0001315	Reduced tendon reflexes	6607	SMN2	OMIM:253400
HP:0001315	Reduced tendon reflexes	1822	ATN1	ORPHA:101
HP:0001315	Reduced tendon reflexes	4311	MME	ORPHA:497764
HP:0001315	Reduced tendon reflexes	4311	MME	OMIM:617018
HP:0001315	Reduced tendon reflexes	4311	MME	OMIM:617017
HP:0001315	Reduced tendon reflexes	4669	NAGLU	OMIM:616491
HP:0001315	Reduced tendon reflexes	59336	PRDM13	OMIM:619761
HP:0001315	Reduced tendon reflexes	59336	PRDM13	OMIM:619909
HP:0001315	Reduced tendon reflexes	400916	CHCHD10	OMIM:615048
HP:0001315	Reduced tendon reflexes	400916	CHCHD10	OMIM:615911
HP:0001315	Reduced tendon reflexes	400916	CHCHD10	ORPHA:275872
HP:0001315	Reduced tendon reflexes	400916	CHCHD10	ORPHA:276435
HP:0001315	Reduced tendon reflexes	146227	BEAN1	ORPHA:217012
HP:0001315	Reduced tendon reflexes	9711	RUBCN	ORPHA:404499
HP:0001315	Reduced tendon reflexes	91949	COG7	ORPHA:79333
HP:0001315	Reduced tendon reflexes	91949	COG7	OMIM:608779
HP:0001315	Reduced tendon reflexes	6785	ELOVL4	ORPHA:1955
HP:0001315	Reduced tendon reflexes	6785	ELOVL4	OMIM:133190
HP:0001315	Reduced tendon reflexes	38	ACAT1	ORPHA:134
HP:0001315	Reduced tendon reflexes	23556	PIGN	OMIM:614080
HP:0001315	Reduced tendon reflexes	23556	PIGN	ORPHA:280633
HP:0001315	Reduced tendon reflexes	51651	PTRH2	OMIM:616263
HP:0001315	Reduced tendon reflexes	5354	PLP1	OMIM:312080
HP:0001315	Reduced tendon reflexes	339855	KY	OMIM:617114
HP:0001315	Reduced tendon reflexes	4099	MAG	ORPHA:459056
HP:0001315	Reduced tendon reflexes	6261	RYR1	ORPHA:324581
HP:0001315	Reduced tendon reflexes	6261	RYR1	OMIM:117000
HP:0001315	Reduced tendon reflexes	404672	GTF2H5	ORPHA:33364
HP:0001315	Reduced tendon reflexes	833	CARS1	ORPHA:33364
HP:0001315	Reduced tendon reflexes	7737	RNF113A	ORPHA:33364
HP:0001315	Reduced tendon reflexes	136647	MPLKIP	ORPHA:33364
HP:0001315	Reduced tendon reflexes	6897	TARS1	ORPHA:33364
HP:0001315	Reduced tendon reflexes	2961	GTF2E2	ORPHA:33364
HP:0001315	Reduced tendon reflexes	3339	HSPG2	OMIM:255800
HP:0001315	Reduced tendon reflexes	3339	HSPG2	ORPHA:800
HP:0001315	Reduced tendon reflexes	2778	GNAS	ORPHA:79443
HP:0001315	Reduced tendon reflexes	2778	GNAS	ORPHA:79444
HP:0001315	Reduced tendon reflexes	2778	GNAS	ORPHA:94089
HP:0001315	Reduced tendon reflexes	367	AR	ORPHA:481
HP:0001315	Reduced tendon reflexes	367	AR	OMIM:313200
HP:0001315	Reduced tendon reflexes	9217	VAPB	OMIM:182980
HP:0001315	Reduced tendon reflexes	59345	GNB4	OMIM:615185
HP:0001315	Reduced tendon reflexes	57505	AARS2	OMIM:614096
HP:0001315	Reduced tendon reflexes	1337	COX6A1	OMIM:616039
HP:0001315	Reduced tendon reflexes	2583	B4GALNT1	OMIM:609195
HP:0001315	Reduced tendon reflexes	2583	B4GALNT1	ORPHA:101006
HP:0001315	Reduced tendon reflexes	51013	EXOSC1	OMIM:619304
HP:0001315	Reduced tendon reflexes	5910	RAP1GDS1	OMIM:620655
HP:0001315	Reduced tendon reflexes	81603	TRIM8	OMIM:619428
HP:0001315	Reduced tendon reflexes	8803	SUCLA2	ORPHA:1933
HP:0001315	Reduced tendon reflexes	8803	SUCLA2	OMIM:612073
HP:0001315	Reduced tendon reflexes	2617	GARS1	OMIM:601472
HP:0001315	Reduced tendon reflexes	291	SLC25A4	ORPHA:254892
HP:0001315	Reduced tendon reflexes	291	SLC25A4	OMIM:617184
HP:0001315	Reduced tendon reflexes	5428	POLG	ORPHA:254892
HP:0001315	Reduced tendon reflexes	5428	POLG	OMIM:258450
HP:0001315	Reduced tendon reflexes	5428	POLG	ORPHA:254886
HP:0001315	Reduced tendon reflexes	5428	POLG	OMIM:157640
HP:0001315	Reduced tendon reflexes	5428	POLG	OMIM:607459
HP:0001315	Reduced tendon reflexes	5428	POLG	ORPHA:70595
HP:0001315	Reduced tendon reflexes	11232	POLG2	ORPHA:254892
HP:0001315	Reduced tendon reflexes	9488	PIGB	OMIM:618580
HP:0001315	Reduced tendon reflexes	3155	HMGCL	ORPHA:20
HP:0001315	Reduced tendon reflexes	3155	HMGCL	OMIM:246450
HP:0001315	Reduced tendon reflexes	127833	SYT2	OMIM:616040
HP:0001315	Reduced tendon reflexes	127833	SYT2	ORPHA:98914
HP:0001315	Reduced tendon reflexes	79705	LRRK1	OMIM:615198
HP:0001315	Reduced tendon reflexes	1410	CRYAB	ORPHA:399058
HP:0001315	Reduced tendon reflexes	79912	PYROXD1	OMIM:617258
HP:0001315	Reduced tendon reflexes	1756	DMD	OMIM:310200
HP:0001315	Reduced tendon reflexes	1756	DMD	OMIM:300376
HP:0001315	Reduced tendon reflexes	7443	VRK1	OMIM:620542
HP:0001315	Reduced tendon reflexes	7443	VRK1	ORPHA:2254
HP:0001315	Reduced tendon reflexes	4703	NEB	OMIM:256030
HP:0001315	Reduced tendon reflexes	4703	NEB	ORPHA:171436
HP:0001315	Reduced tendon reflexes	4703	NEB	ORPHA:171433
HP:0001315	Reduced tendon reflexes	4703	NEB	ORPHA:171439
HP:0001315	Reduced tendon reflexes	2200	FBN1	ORPHA:284979
HP:0001315	Reduced tendon reflexes	8675	STX16	ORPHA:94089
HP:0001315	Reduced tendon reflexes	256297	PTF1A	OMIM:609069
HP:0001315	Reduced tendon reflexes	7555	CNBP	OMIM:602668
HP:0001315	Reduced tendon reflexes	10397	NDRG1	OMIM:601455
HP:0001315	Reduced tendon reflexes	91942	NDUFAF2	OMIM:618233
HP:0001315	Reduced tendon reflexes	7084	TK2	ORPHA:254886
HP:0001315	Reduced tendon reflexes	7084	TK2	ORPHA:254875
HP:0001315	Reduced tendon reflexes	23114	NFASC	OMIM:618356
HP:0001315	Reduced tendon reflexes	92667	MGME1	OMIM:615084
HP:0001315	Reduced tendon reflexes	92667	MGME1	ORPHA:352447
HP:0001315	Reduced tendon reflexes	116461	TSEN15	OMIM:617026
HP:0001315	Reduced tendon reflexes	1130	LYST	OMIM:214500
HP:0001315	Reduced tendon reflexes	84892	POMGNT2	ORPHA:899
HP:0001315	Reduced tendon reflexes	148789	B3GALNT2	ORPHA:899
HP:0001315	Reduced tendon reflexes	1282	COL4A1	ORPHA:899
HP:0001315	Reduced tendon reflexes	729920	CRPPA	ORPHA:899
HP:0001315	Reduced tendon reflexes	10329	RXYLT1	ORPHA:899
HP:0001315	Reduced tendon reflexes	1605	DAG1	ORPHA:899
HP:0001315	Reduced tendon reflexes	11041	B4GAT1	ORPHA:899
HP:0001315	Reduced tendon reflexes	84197	POMK	ORPHA:899
HP:0001315	Reduced tendon reflexes	84197	POMK	OMIM:616094
HP:0001315	Reduced tendon reflexes	2218	FKTN	ORPHA:899
HP:0001315	Reduced tendon reflexes	2218	FKTN	OMIM:611588
HP:0001315	Reduced tendon reflexes	55624	POMGNT1	ORPHA:899
HP:0001315	Reduced tendon reflexes	57551	TAOK1	OMIM:619575
HP:0001315	Reduced tendon reflexes	8888	MCM3AP	OMIM:618124
HP:0001315	Reduced tendon reflexes	4704	NDUFA9	OMIM:618247
HP:0001315	Reduced tendon reflexes	64856	VWA1	OMIM:619216
HP:0001315	Reduced tendon reflexes	23203	PMPCA	OMIM:213200
HP:0001315	Reduced tendon reflexes	3913	LAMB2	OMIM:609049
HP:0001315	Reduced tendon reflexes	3913	LAMB2	ORPHA:98915
HP:0001315	Reduced tendon reflexes	112812	FDX2	OMIM:251900
HP:0001315	Reduced tendon reflexes	463	ZFHX3	OMIM:600223
HP:0001315	Reduced tendon reflexes	7809	BSND	OMIM:602522
HP:0001315	Reduced tendon reflexes	2332	FMR1	OMIM:300623
HP:0001315	Reduced tendon reflexes	2332	FMR1	ORPHA:93256
HP:0001315	Reduced tendon reflexes	4556	MT-TE	ORPHA:254864
HP:0001315	Reduced tendon reflexes	55687	TRMU	ORPHA:254864
HP:0001315	Reduced tendon reflexes	2705	GJB1	OMIM:302800
HP:0001315	Reduced tendon reflexes	64374	SIL1	ORPHA:559
HP:0001315	Reduced tendon reflexes	9531	BAG3	OMIM:612954
HP:0001315	Reduced tendon reflexes	65260	COA7	OMIM:618387
HP:0001315	Reduced tendon reflexes	57003	CCDC47	OMIM:618268
HP:0001315	Reduced tendon reflexes	2892	GRIA3	ORPHA:364028
HP:0001315	Reduced tendon reflexes	2892	GRIA3	OMIM:300699
HP:0001315	Reduced tendon reflexes	63895	PIEZO2	OMIM:108145
HP:0001315	Reduced tendon reflexes	526	ATP6V1B2	ORPHA:79500
HP:0001315	Reduced tendon reflexes	57465	TBC1D24	ORPHA:79500
HP:0001315	Reduced tendon reflexes	57465	TBC1D24	OMIM:220500
HP:0001315	Reduced tendon reflexes	9829	DNAJC6	ORPHA:391411
HP:0001315	Reduced tendon reflexes	5420	PODXL	ORPHA:391411
HP:0001315	Reduced tendon reflexes	476	ATP1A1	OMIM:618036
HP:0001315	Reduced tendon reflexes	6663	SOX10	OMIM:609136
HP:0001315	Reduced tendon reflexes	9759	HDAC4	OMIM:600430
HP:0001315	Reduced tendon reflexes	1716	DGUOK	OMIM:617070
HP:0001315	Reduced tendon reflexes	2629	GBA1	ORPHA:2072
HP:0001315	Reduced tendon reflexes	2521	FUS	OMIM:608030
HP:0001315	Reduced tendon reflexes	2521	FUS	ORPHA:275872
HP:0001315	Reduced tendon reflexes	60386	SLC25A19	OMIM:613710
HP:0001315	Reduced tendon reflexes	203190	LGI3	OMIM:620007
HP:0001315	Reduced tendon reflexes	55005	RMND1	OMIM:614922
HP:0001315	Reduced tendon reflexes	2581	GALC	ORPHA:206436
HP:0001315	Reduced tendon reflexes	129285	PPP1R21	OMIM:619383
HP:0001315	Reduced tendon reflexes	60684	TRAPPC11	ORPHA:369840
HP:0001315	Reduced tendon reflexes	9131	AIFM1	OMIM:300816
HP:0001315	Reduced tendon reflexes	87178	PNPT1	OMIM:614932
HP:0001315	Reduced tendon reflexes	9987	HNRNPDL	OMIM:609115
HP:0001315	Reduced tendon reflexes	9898	UBAP2L	OMIM:620494
HP:0001315	Reduced tendon reflexes	65055	REEP1	OMIM:620011
HP:0001315	Reduced tendon reflexes	4359	MPZ	OMIM:618184
HP:0001315	Reduced tendon reflexes	4359	MPZ	OMIM:180800
HP:0001315	Reduced tendon reflexes	4359	MPZ	OMIM:118200
HP:0001315	Reduced tendon reflexes	4359	MPZ	OMIM:145900
HP:0001315	Reduced tendon reflexes	4359	MPZ	OMIM:607677
HP:0001315	Reduced tendon reflexes	4359	MPZ	OMIM:607791
HP:0001315	Reduced tendon reflexes	4359	MPZ	OMIM:607736
HP:0001315	Reduced tendon reflexes	5393	EXOSC9	OMIM:618065
HP:0001315	Reduced tendon reflexes	5393	EXOSC9	ORPHA:2254
HP:0001315	Reduced tendon reflexes	50717	DCAF8	OMIM:610100
HP:0001315	Reduced tendon reflexes	4747	NEFL	ORPHA:99939
HP:0001315	Reduced tendon reflexes	4747	NEFL	OMIM:607684
HP:0001315	Reduced tendon reflexes	4747	NEFL	OMIM:607734
HP:0001315	Reduced tendon reflexes	4747	NEFL	OMIM:617882
HP:0001315	Reduced tendon reflexes	8878	SQSTM1	ORPHA:275872
HP:0001315	Reduced tendon reflexes	8878	SQSTM1	OMIM:616437
HP:0001315	Reduced tendon reflexes	23435	TARDBP	ORPHA:275872
HP:0001315	Reduced tendon reflexes	29110	TBK1	ORPHA:275872
HP:0001315	Reduced tendon reflexes	29110	TBK1	OMIM:616439
HP:0001315	Reduced tendon reflexes	7879	RAB7A	OMIM:600882
HP:0001315	Reduced tendon reflexes	10324	KLHL41	ORPHA:171436
HP:0001315	Reduced tendon reflexes	10324	KLHL41	ORPHA:171433
HP:0001315	Reduced tendon reflexes	10324	KLHL41	ORPHA:171439
HP:0001315	Reduced tendon reflexes	56203	LMOD3	ORPHA:171436
HP:0001315	Reduced tendon reflexes	1073	CFL2	ORPHA:171436
HP:0001315	Reduced tendon reflexes	538	ATP7A	OMIM:300489
HP:0001315	Reduced tendon reflexes	6576	SLC25A1	OMIM:618197
HP:0001315	Reduced tendon reflexes	6576	SLC25A1	ORPHA:98914
HP:0001315	Reduced tendon reflexes	6311	ATXN2	OMIM:183090
HP:0001315	Reduced tendon reflexes	6311	ATXN2	ORPHA:98756
HP:0001315	Reduced tendon reflexes	6335	SCN9A	OMIM:243000
HP:0001315	Reduced tendon reflexes	6335	SCN9A	OMIM:201300
HP:0001315	Reduced tendon reflexes	2314	FLII	ORPHA:819
HP:0001315	Reduced tendon reflexes	23096	IQSEC2	ORPHA:819
HP:0001315	Reduced tendon reflexes	10743	RAI1	ORPHA:819
HP:0001315	Reduced tendon reflexes	10743	RAI1	OMIM:182290
HP:0001315	Reduced tendon reflexes	10522	DEAF1	ORPHA:819
HP:0001315	Reduced tendon reflexes	7259	TSPYL1	ORPHA:168593
HP:0001315	Reduced tendon reflexes	1351	COX8A	OMIM:619059
HP:0001315	Reduced tendon reflexes	22954	TRIM32	OMIM:254110
HP:0001315	Reduced tendon reflexes	5238	PGM3	OMIM:615816
HP:0001315	Reduced tendon reflexes	10558	SPTLC1	OMIM:620285
HP:0001315	Reduced tendon reflexes	10558	SPTLC1	OMIM:162400
HP:0001315	Reduced tendon reflexes	7276	TTR	OMIM:105210
HP:0001315	Reduced tendon reflexes	26090	ABHD12	OMIM:612674
HP:0001315	Reduced tendon reflexes	3735	KARS1	OMIM:613641
HP:0001315	Reduced tendon reflexes	11284	PNKP	OMIM:613402
HP:0001315	Reduced tendon reflexes	11284	PNKP	OMIM:605589
HP:0001315	Reduced tendon reflexes	9896	FIG4	OMIM:611228
HP:0001315	Reduced tendon reflexes	5255	PHKA1	ORPHA:715
HP:0001315	Reduced tendon reflexes	5260	PHKG1	ORPHA:715
HP:0001315	Reduced tendon reflexes	121512	FGD4	OMIM:609311
HP:0001315	Reduced tendon reflexes	7915	ALDH5A1	OMIM:271980
HP:0001315	Reduced tendon reflexes	3752	KCND3	ORPHA:98772
HP:0001315	Reduced tendon reflexes	3752	KCND3	OMIM:607346
HP:0001315	Reduced tendon reflexes	1798	DPAGT1	ORPHA:86309
HP:0001315	Reduced tendon reflexes	10801	SEPTIN9	OMIM:162100
HP:0001315	Reduced tendon reflexes	23299	BICD2	ORPHA:363454
HP:0001315	Reduced tendon reflexes	5626	PROP1	ORPHA:226307
HP:0001315	Reduced tendon reflexes	89884	LHX4	ORPHA:226307
HP:0001315	Reduced tendon reflexes	8022	LHX3	ORPHA:226307
HP:0001315	Reduced tendon reflexes	5449	POU1F1	ORPHA:226307
HP:0001315	Reduced tendon reflexes	8820	HESX1	ORPHA:226307
HP:0001315	Reduced tendon reflexes	4744	NEFH	OMIM:616924
HP:0001315	Reduced tendon reflexes	11340	EXOSC8	ORPHA:2254
HP:0001315	Reduced tendon reflexes	23287	AGTPBP1	ORPHA:2254
HP:0001315	Reduced tendon reflexes	51010	EXOSC3	ORPHA:2254
HP:0001315	Reduced tendon reflexes	91137	SLC25A46	ORPHA:2254
HP:0001315	Reduced tendon reflexes	91137	SLC25A46	OMIM:616505
HP:0001315	Reduced tendon reflexes	79753	SNIP1	OMIM:614501
HP:0001315	Reduced tendon reflexes	54499	TMCO1	OMIM:213980
HP:0001315	Reduced tendon reflexes	6609	SMPD1	OMIM:257200
HP:0001315	Reduced tendon reflexes	25814	ATXN10	ORPHA:98761
HP:0001315	Reduced tendon reflexes	23095	KIF1B	OMIM:118210
HP:0001315	Reduced tendon reflexes	23065	EMC1	ORPHA:480898
HP:0001315	Reduced tendon reflexes	23065	EMC1	OMIM:616875
HP:0001315	Reduced tendon reflexes	6310	ATXN1	ORPHA:98755
HP:0001315	Reduced tendon reflexes	4677	NARS1	OMIM:619091
HP:0001315	Reduced tendon reflexes	4677	NARS1	OMIM:619092
HP:0001315	Reduced tendon reflexes	390594	KBTBD13	ORPHA:171439
HP:0001315	Reduced tendon reflexes	50628	GEMIN4	OMIM:617913
HP:0001315	Reduced tendon reflexes	51750	RTEL1	ORPHA:3322
HP:0001315	Reduced tendon reflexes	65057	ACD	ORPHA:3322
HP:0001315	Reduced tendon reflexes	5073	PARN	ORPHA:3322
HP:0001315	Reduced tendon reflexes	7015	TERT	ORPHA:3322
HP:0001315	Reduced tendon reflexes	26277	TINF2	ORPHA:3322
HP:0001315	Reduced tendon reflexes	1736	DKC1	ORPHA:3322
HP:0001315	Reduced tendon reflexes	26353	HSPB8	OMIM:608673
HP:0001315	Reduced tendon reflexes	3098	HK1	OMIM:605285
HP:0001315	Reduced tendon reflexes	65125	WNK1	OMIM:201300
HP:0001315	Reduced tendon reflexes	54463	RETREG1	OMIM:201300
HP:0001315	Reduced tendon reflexes	54463	RETREG1	OMIM:613115
HP:0001315	Reduced tendon reflexes	547	KIF1A	OMIM:201300
HP:0001315	Reduced tendon reflexes	547	KIF1A	OMIM:614213
HP:0001315	Reduced tendon reflexes	10159	ATP6AP2	OMIM:300423
HP:0001315	Reduced tendon reflexes	22907	DHX30	OMIM:617804
HP:0001315	Reduced tendon reflexes	57410	SCYL1	OMIM:616719
HP:0001315	Reduced tendon reflexes	57410	SCYL1	ORPHA:466794
HP:0001315	Reduced tendon reflexes	339453	TMEM240	OMIM:607454
HP:0001315	Reduced tendon reflexes	1959	EGR2	OMIM:145900
HP:0001315	Reduced tendon reflexes	57716	PRX	OMIM:145900
HP:0001315	Reduced tendon reflexes	1785	DNM2	OMIM:606482
HP:0001315	Reduced tendon reflexes	8729	GBF1	OMIM:606483
HP:0001315	Reduced tendon reflexes	124997	WDR81	OMIM:610185
HP:0001315	Reduced tendon reflexes	7167	TPI1	OMIM:615512
HP:0001315	Reduced tendon reflexes	51807	TUBA8	ORPHA:250972
HP:0001315	Reduced tendon reflexes	85358	SHANK3	OMIM:606232
HP:0001315	Reduced tendon reflexes	5191	PEX7	OMIM:266500
HP:0001315	Reduced tendon reflexes	5264	PHYH	OMIM:266500
HP:0001315	Reduced tendon reflexes	80347	COASY	OMIM:615643
HP:0001315	Reduced tendon reflexes	50	ACO2	OMIM:614559
HP:0001315	Reduced tendon reflexes	90678	LRSAM1	OMIM:614436
HP:0001315	Reduced tendon reflexes	4694	NDUFA1	OMIM:301020
HP:0001315	Reduced tendon reflexes	405753	DUOXA2	ORPHA:95716
HP:0001315	Reduced tendon reflexes	6528	SLC5A5	ORPHA:95716
HP:0001315	Reduced tendon reflexes	7038	TG	ORPHA:95716
HP:0001315	Reduced tendon reflexes	7173	TPO	ORPHA:95716
HP:0001315	Reduced tendon reflexes	389434	IYD	ORPHA:95716
HP:0001315	Reduced tendon reflexes	50506	DUOX2	ORPHA:95716
HP:0001315	Reduced tendon reflexes	1778	DYNC1H1	OMIM:614563
HP:0001315	Reduced tendon reflexes	1778	DYNC1H1	OMIM:614228
HP:0001315	Reduced tendon reflexes	64423	INF2	OMIM:614455
HP:0001315	Reduced tendon reflexes	7453	WARS1	OMIM:617721
HP:0001315	Reduced tendon reflexes	5981	RFC1	OMIM:614575
HP:0001315	Reduced tendon reflexes	6638	SNRPN	ORPHA:177907
HP:0001315	Reduced tendon reflexes	81790	RNF170	OMIM:608984
HP:0001315	Reduced tendon reflexes	5498	PPOX	ORPHA:79473
HP:0001315	Reduced tendon reflexes	9997	SCO2	OMIM:604377
HP:0001315	Reduced tendon reflexes	79784	MYH14	ORPHA:397744
HP:0001315	Reduced tendon reflexes	2548	GAA	OMIM:232300
HP:0001315	Reduced tendon reflexes	54870	QRICH1	OMIM:617982
HP:0001315	Reduced tendon reflexes	57688	ZSWIM6	OMIM:617865
HP:0001315	Reduced tendon reflexes	3295	HSD17B4	OMIM:233400
HP:0001315	Reduced tendon reflexes	57570	TRMT5	OMIM:616539
HP:0001315	Reduced tendon reflexes	4649	MYO9A	ORPHA:98914
HP:0001315	Reduced tendon reflexes	1103	CHAT	ORPHA:98914
HP:0001315	Reduced tendon reflexes	6843	VAMP1	ORPHA:98914
HP:0001315	Reduced tendon reflexes	6572	SLC18A3	ORPHA:98914
HP:0001315	Reduced tendon reflexes	6616	SNAP25	ORPHA:98914
HP:0001315	Reduced tendon reflexes	8292	COLQ	ORPHA:98915
HP:0001315	Reduced tendon reflexes	1786	DNMT1	OMIM:614116
HP:0001315	Reduced tendon reflexes	9499	MYOT	ORPHA:98911
HP:0001315	Reduced tendon reflexes	9516	LITAF	OMIM:601098
HP:0001315	Reduced tendon reflexes	9786	KIAA0586	OMIM:616546
HP:0001315	Reduced tendon reflexes	4724	NDUFS4	OMIM:252010
HP:0001315	Reduced tendon reflexes	23533	PIK3R5	OMIM:615217
HP:0001315	Reduced tendon reflexes	9181	ARHGEF2	OMIM:617523
HP:0001315	Reduced tendon reflexes	91574	MTRFR	ORPHA:254930
HP:0001315	Reduced tendon reflexes	91574	MTRFR	OMIM:613559
HP:0001315	Reduced tendon reflexes	6834	SURF1	OMIM:616684
HP:0001315	Reduced tendon reflexes	1161	ERCC8	ORPHA:90324
HP:0001315	Reduced tendon reflexes	10059	DNM1L	OMIM:614388
HP:0001315	Reduced tendon reflexes	10059	DNM1L	ORPHA:98673
HP:0001315	Reduced tendon reflexes	55775	TDP1	ORPHA:94124
HP:0001315	Reduced tendon reflexes	55775	TDP1	OMIM:607250
HP:0001315	Reduced tendon reflexes	7138	TNNT1	OMIM:620389
HP:0001315	Reduced tendon reflexes	79581	SLC52A2	OMIM:614707
HP:0001315	Reduced tendon reflexes	5339	PLEC	ORPHA:254361
HP:0001315	Reduced tendon reflexes	5631	PRPS1	ORPHA:99014
HP:0001315	Reduced tendon reflexes	5631	PRPS1	ORPHA:1187
HP:0001315	Reduced tendon reflexes	5631	PRPS1	OMIM:301835
HP:0001315	Reduced tendon reflexes	56704	JPH1	OMIM:607831
HP:0001315	Reduced tendon reflexes	8566	PDXK	OMIM:618511
HP:0001315	Reduced tendon reflexes	200205	IBA57	OMIM:616451
HP:0001315	Reduced tendon reflexes	2673	GFPT1	ORPHA:353327
HP:0001315	Reduced tendon reflexes	85365	ALG2	ORPHA:353327
HP:0001315	Reduced tendon reflexes	199857	ALG14	ORPHA:353327
HP:0001315	Reduced tendon reflexes	23250	ATP11A	OMIM:619851
HP:0001315	Reduced tendon reflexes	23321	TRIM2	OMIM:615490
HP:0001315	Reduced tendon reflexes	57449	PLEKHG5	OMIM:615376
HP:0001315	Reduced tendon reflexes	57449	PLEKHG5	OMIM:611067
HP:0001315	Reduced tendon reflexes	1020	CDK5	OMIM:616342
HP:0001315	Reduced tendon reflexes	274	BIN1	OMIM:255200
HP:0001315	Reduced tendon reflexes	274	BIN1	ORPHA:169186
HP:0001315	Reduced tendon reflexes	1272	CNTN1	OMIM:612540
HP:0001315	Reduced tendon reflexes	9692	PRORP	OMIM:619737
HP:0001315	Reduced tendon reflexes	966	CD59	OMIM:612300
HP:0001315	Reduced tendon reflexes	55681	SCYL2	OMIM:618766
HP:0001315	Reduced tendon reflexes	55681	SCYL2	ORPHA:1143
HP:0001315	Reduced tendon reflexes	9570	GOSR2	OMIM:620166
HP:0001315	Reduced tendon reflexes	9570	GOSR2	OMIM:614018
HP:0001315	Reduced tendon reflexes	8802	SUCLG1	OMIM:245400
HP:0001315	Reduced tendon reflexes	7274	TTPA	ORPHA:96
HP:0001315	Reduced tendon reflexes	7274	TTPA	OMIM:277460
HP:0001315	Reduced tendon reflexes	1303	COL12A1	OMIM:616470
HP:0001315	Reduced tendon reflexes	1303	COL12A1	ORPHA:536516
HP:0001315	Reduced tendon reflexes	4632	MYL1	OMIM:618414
HP:0001315	Reduced tendon reflexes	3475	IFRD1	ORPHA:98771
HP:0001315	Reduced tendon reflexes	9895	TECPR2	OMIM:615031
HP:0001315	Reduced tendon reflexes	9895	TECPR2	ORPHA:320385
HP:0001315	Reduced tendon reflexes	57863	CADM3	OMIM:619519
HP:0001315	Reduced tendon reflexes	92609	TIMM50	OMIM:617698
HP:0001315	Reduced tendon reflexes	6507	SLC1A3	ORPHA:2131
HP:0001315	Reduced tendon reflexes	10290	SPEG	OMIM:615959
HP:0001315	Reduced tendon reflexes	10290	SPEG	ORPHA:169186
HP:0001315	Reduced tendon reflexes	8659	ALDH4A1	ORPHA:79101
HP:0001315	Reduced tendon reflexes	9990	SLC12A6	OMIM:620068
HP:0001315	Reduced tendon reflexes	9990	SLC12A6	OMIM:218000
HP:0001315	Reduced tendon reflexes	4952	OCRL	OMIM:309000
HP:0001315	Reduced tendon reflexes	4952	OCRL	ORPHA:534
HP:0001315	Reduced tendon reflexes	25894	PLEKHG4	ORPHA:98765
HP:0001315	Reduced tendon reflexes	10613	ERLIN1	ORPHA:401785
HP:0001315	Reduced tendon reflexes	64419	MTMR14	OMIM:160150
HP:0001315	Reduced tendon reflexes	6305	SBF1	OMIM:615284
HP:0001315	Reduced tendon reflexes	7358	UGDH	OMIM:618792
HP:0001315	Reduced tendon reflexes	4076	CAPRIN1	OMIM:620636
HP:0001315	Reduced tendon reflexes	10342	TFG	ORPHA:90117
HP:0001315	Reduced tendon reflexes	10342	TFG	OMIM:604484
HP:0001315	Reduced tendon reflexes	182	JAG1	OMIM:118450
HP:0001315	Reduced tendon reflexes	8565	YARS1	OMIM:608323
HP:0001315	Reduced tendon reflexes	57104	PNPLA2	OMIM:610717
HP:0001315	Reduced tendon reflexes	57104	PNPLA2	ORPHA:98908
HP:0001315	Reduced tendon reflexes	9342	SNAP29	OMIM:609528
HP:0001315	Reduced tendon reflexes	9342	SNAP29	ORPHA:66631
HP:0001315	Reduced tendon reflexes	3300	DNAJB2	OMIM:614881
HP:0001315	Reduced tendon reflexes	6240	RRM1	OMIM:620647
HP:0001315	Reduced tendon reflexes	7317	UBA1	ORPHA:1145
HP:0001315	Reduced tendon reflexes	7317	UBA1	OMIM:301830
HP:0001315	Reduced tendon reflexes	84570	COL25A1	ORPHA:1143
HP:0001315	Reduced tendon reflexes	57222	ERGIC1	ORPHA:1143
HP:0001315	Reduced tendon reflexes	23479	ISCU	OMIM:255125
HP:0001315	Reduced tendon reflexes	51117	COQ4	OMIM:616276
HP:0001315	Reduced tendon reflexes	667	DST	OMIM:614653
HP:0001315	Reduced tendon reflexes	23590	PDSS1	OMIM:614651
HP:0001315	Reduced tendon reflexes	5081	PAX7	OMIM:618578
HP:0001315	Reduced tendon reflexes	79628	SH3TC2	ORPHA:99949
HP:0001315	Reduced tendon reflexes	56052	ALG1	OMIM:608540
HP:0001315	Reduced tendon reflexes	7273	TTN	ORPHA:169186
HP:0001315	Reduced tendon reflexes	353116	RILPL1	OMIM:619790
HP:0001315	Reduced tendon reflexes	353116	RILPL1	ORPHA:98897
HP:0001315	Reduced tendon reflexes	270	AMPD1	OMIM:615511
HP:0001315	Reduced tendon reflexes	2653	GCSH	OMIM:620423
HP:0001315	Reduced tendon reflexes	10073	SNUPN	OMIM:620793
HP:0001315	Reduced tendon reflexes	6904	TBCD	ORPHA:496641
HP:0001315	Reduced tendon reflexes	427	ASAH1	OMIM:159950
HP:0001315	Reduced tendon reflexes	4976	OPA1	ORPHA:98673
HP:0001315	Reduced tendon reflexes	25929	GEMIN5	OMIM:619333
HP:0001315	Reduced tendon reflexes	28982	FLVCR1	ORPHA:88628
HP:0001315	Reduced tendon reflexes	28982	FLVCR1	OMIM:609033
HP:0001315	Reduced tendon reflexes	55906	ZC4H2	OMIM:314580
HP:0001315	Reduced tendon reflexes	51008	ASCC1	OMIM:616867
HP:0001315	Reduced tendon reflexes	9325	TRIP4	OMIM:616866
HP:0001315	Reduced tendon reflexes	11145	PLAAT3	OMIM:620683
HP:0001315	Reduced tendon reflexes	4547	MTTP	ORPHA:14
HP:0001315	Reduced tendon reflexes	51305	KCNK9	ORPHA:166108
HP:0001315	Reduced tendon reflexes	89874	SLC25A21	OMIM:618811
HP:0001315	Reduced tendon reflexes	2065	ERBB3	OMIM:243180
HP:0001315	Reduced tendon reflexes	10755	GIPC1	ORPHA:98897
HP:0001315	Reduced tendon reflexes	953	ENTPD1	ORPHA:401810
HP:0001315	Reduced tendon reflexes	340075	ARSI	ORPHA:401815
HP:0001315	Reduced tendon reflexes	4576	MT-TT	ORPHA:254857
HP:0001315	Reduced tendon reflexes	4762	NEUROG1	OMIM:620469
HP:0001315	Reduced tendon reflexes	8087	FXR1	OMIM:618822
HP:0001315	Reduced tendon reflexes	8087	FXR1	OMIM:618823
HP:0001315	Reduced tendon reflexes	1890	TYMP	OMIM:603041
HP:0001315	Reduced tendon reflexes	3032	HADHB	ORPHA:746
HP:0001315	Reduced tendon reflexes	3030	HADHA	ORPHA:746
HP:0001315	Reduced tendon reflexes	3030	HADHA	OMIM:609015
HP:0001315	Reduced tendon reflexes	4534	MTM1	OMIM:310400
HP:0001315	Reduced tendon reflexes	283446	MYO1H	OMIM:619482
HP:0001315	Reduced tendon reflexes	1806	DPYD	ORPHA:1675
HP:0001315	Reduced tendon reflexes	859	CAV3	ORPHA:488650
HP:0001315	Reduced tendon reflexes	29929	ALG6	OMIM:603147
HP:0001315	Reduced tendon reflexes	5528	PPP2R5D	ORPHA:457279
HP:0001315	Reduced tendon reflexes	51099	ABHD5	ORPHA:98907
HP:0001315	Reduced tendon reflexes	7515	XRCC1	OMIM:617633
HP:0001315	Reduced tendon reflexes	57731	SPTBN4	OMIM:617519
HP:0001315	Reduced tendon reflexes	8139	GAN	ORPHA:643
HP:0001315	Reduced tendon reflexes	8139	GAN	OMIM:256850
HP:0001315	Reduced tendon reflexes	55331	ACER3	OMIM:617762
HP:0001315	Reduced tendon reflexes	79587	CARS2	OMIM:616672
HP:0001315	Reduced tendon reflexes	1291	COL6A1	OMIM:158810
HP:0001315	Reduced tendon reflexes	8398	PLA2G6	OMIM:256600
HP:0001315	Reduced tendon reflexes	132001	TAMM41	OMIM:620139
HP:0001315	Reduced tendon reflexes	8449	DHX16	OMIM:618733
HP:0001315	Reduced tendon reflexes	1374	CPT1A	ORPHA:156
HP:0001315	Reduced tendon reflexes	3094	HINT1	ORPHA:324442
HP:0001315	Reduced tendon reflexes	80207	OPA3	ORPHA:67036
HP:0001315	Reduced tendon reflexes	23345	SYNE1	ORPHA:88644
HP:0001315	Reduced tendon reflexes	23345	SYNE1	ORPHA:98853
HP:0001315	Reduced tendon reflexes	3265	HRAS	ORPHA:2612
HP:0001315	Reduced tendon reflexes	3845	KRAS	ORPHA:2612
HP:0001315	Reduced tendon reflexes	4893	NRAS	ORPHA:2612
HP:0001315	Reduced tendon reflexes	2632	GBE1	OMIM:232500
HP:0001315	Reduced tendon reflexes	5309	PITX3	OMIM:610623
HP:0001315	Reduced tendon reflexes	2671	GFER	ORPHA:330054
HP:0001315	Reduced tendon reflexes	1776	DNASE1L3	ORPHA:36412
HP:0001315	Reduced tendon reflexes	4591	TRIM37	ORPHA:2576
HP:0001315	Reduced tendon reflexes	81839	VANGL1	ORPHA:3027
HP:0001315	Reduced tendon reflexes	80199	FUZ	ORPHA:3027
HP:0001315	Reduced tendon reflexes	3190	HNRNPK	ORPHA:453504
HP:0001315	Reduced tendon reflexes	3190	HNRNPK	ORPHA:352665
HP:0001315	Reduced tendon reflexes	8291	DYSF	ORPHA:268
HP:0001315	Reduced tendon reflexes	112	ADCY6	ORPHA:2680
HP:0001315	Reduced tendon reflexes	163175	LGI4	ORPHA:2680
HP:0001315	Reduced tendon reflexes	8506	CNTNAP1	ORPHA:2680
HP:0001315	Reduced tendon reflexes	3074	HEXB	ORPHA:309169
HP:0001315	Reduced tendon reflexes	1644	DDC	ORPHA:35708
HP:0001315	Reduced tendon reflexes	58	ACTA1	OMIM:616852
HP:0001315	Reduced tendon reflexes	58	ACTA1	ORPHA:2020
HP:0001315	Reduced tendon reflexes	22880	MORC2	ORPHA:466768
HP:0001315	Reduced tendon reflexes	6492	SIM1	ORPHA:398079
HP:0001315	Reduced tendon reflexes	472	ATM	OMIM:208900
HP:0001315	Reduced tendon reflexes	25782	RAB3GAP2	OMIM:212720
HP:0001315	Reduced tendon reflexes	3908	LAMA2	ORPHA:258
HP:0001315	Reduced tendon reflexes	29925	GMPPB	ORPHA:370968
HP:0001315	Reduced tendon reflexes	79147	FKRP	ORPHA:370968
HP:0001315	Reduced tendon reflexes	29954	POMT2	ORPHA:370968
HP:0001315	Reduced tendon reflexes	9215	LARGE1	ORPHA:370968
HP:0001315	Reduced tendon reflexes	10585	POMT1	ORPHA:370968
HP:0001315	Reduced tendon reflexes	6023	RMRP	ORPHA:175
HP:0001315	Reduced tendon reflexes	84992	PIGY	ORPHA:247262
HP:0001315	Reduced tendon reflexes	84720	PIGO	ORPHA:247262
HP:0001315	Reduced tendon reflexes	93210	PGAP3	ORPHA:247262
HP:0001315	Reduced tendon reflexes	284098	PIGW	ORPHA:247262
HP:0001315	Reduced tendon reflexes	27315	PGAP2	ORPHA:247262
HP:0001315	Reduced tendon reflexes	55650	PIGV	ORPHA:247262
HP:0001315	Reduced tendon reflexes	9487	PIGL	ORPHA:247262
HP:0001315	Reduced tendon reflexes	4141	MARS1	OMIM:619692
HP:0001315	Reduced tendon reflexes	84665	MYPN	ORPHA:171881
HP:0001315	Reduced tendon reflexes	7169	TPM2	ORPHA:171881
HP:0001315	Reduced tendon reflexes	7169	TPM2	ORPHA:2020
HP:0001315	Reduced tendon reflexes	7170	TPM3	ORPHA:171881
HP:0001315	Reduced tendon reflexes	7170	TPM3	ORPHA:2020
HP:0001315	Reduced tendon reflexes	2068	ERCC2	ORPHA:1466
HP:0001315	Reduced tendon reflexes	2068	ERCC2	ORPHA:910
HP:0001315	Reduced tendon reflexes	2067	ERCC1	ORPHA:1466
HP:0001315	Reduced tendon reflexes	2074	ERCC6	ORPHA:1466
HP:0001315	Reduced tendon reflexes	2073	ERCC5	ORPHA:1466
HP:0001315	Reduced tendon reflexes	2073	ERCC5	ORPHA:910
HP:0001315	Reduced tendon reflexes	54551	MAGEL2	ORPHA:398069
HP:0001315	Reduced tendon reflexes	81857	MED25	ORPHA:464738
HP:0001315	Reduced tendon reflexes	9927	MFN2	ORPHA:2398
HP:0001315	Reduced tendon reflexes	55157	DARS2	ORPHA:137898
HP:0001315	Reduced tendon reflexes	56652	TWNK	ORPHA:1186
HP:0001315	Reduced tendon reflexes	54332	GDAP1	ORPHA:101097
HP:0001315	Reduced tendon reflexes	4361	MRE11	OMIM:604391
HP:0001315	Reduced tendon reflexes	4361	MRE11	ORPHA:251347
HP:0001315	Reduced tendon reflexes	5351	PLOD1	ORPHA:1900
HP:0001315	Reduced tendon reflexes	22	ABCB7	OMIM:301310
HP:0001315	Reduced tendon reflexes	6329	SCN4A	ORPHA:682
HP:0001315	Reduced tendon reflexes	6329	SCN4A	ORPHA:681
HP:0001315	Reduced tendon reflexes	6329	SCN4A	ORPHA:98913
HP:0001315	Reduced tendon reflexes	779	CACNA1S	ORPHA:681
HP:0001315	Reduced tendon reflexes	10008	KCNE3	ORPHA:681
HP:0001315	Reduced tendon reflexes	57190	SELENON	ORPHA:2020
HP:0001315	Reduced tendon reflexes	4633	MYL2	ORPHA:2020
HP:0001315	Reduced tendon reflexes	3679	ITGA7	ORPHA:2020
HP:0001315	Reduced tendon reflexes	9200	HACD1	ORPHA:2020
HP:0001315	Reduced tendon reflexes	51776	MAP3K20	ORPHA:2020
HP:0001315	Reduced tendon reflexes	93627	TBCK	ORPHA:488632
HP:0001315	Reduced tendon reflexes	23230	VPS13A	ORPHA:2388
HP:0001315	Reduced tendon reflexes	3737	KCNA2	ORPHA:442835
HP:0001315	Reduced tendon reflexes	1759	DNM1	ORPHA:442835
HP:0001315	Reduced tendon reflexes	8120	AP3B2	ORPHA:442835
HP:0001315	Reduced tendon reflexes	523	ATP6V1A	ORPHA:442835
HP:0001315	Reduced tendon reflexes	10991	SLC38A3	ORPHA:442835
HP:0001315	Reduced tendon reflexes	51343	FZR1	ORPHA:442835
HP:0001315	Reduced tendon reflexes	3747	KCNC2	ORPHA:442835
HP:0001315	Reduced tendon reflexes	1917	EEF1A2	ORPHA:442835
HP:0001315	Reduced tendon reflexes	23219	FBXO28	ORPHA:442835
HP:0001315	Reduced tendon reflexes	2561	GABRB2	ORPHA:442835
HP:0001315	Reduced tendon reflexes	8831	SYNGAP1	ORPHA:442835
HP:0001315	Reduced tendon reflexes	2558	GABRA5	ORPHA:442835
HP:0001315	Reduced tendon reflexes	2906	GRIN2D	ORPHA:442835
HP:0001315	Reduced tendon reflexes	116150	NUS1	ORPHA:442835
HP:0001315	Reduced tendon reflexes	1213	CLTC	ORPHA:442835
HP:0001315	Reduced tendon reflexes	51741	WWOX	ORPHA:442835
HP:0001315	Reduced tendon reflexes	23334	SZT2	ORPHA:442835
HP:0001315	Reduced tendon reflexes	348980	HCN1	ORPHA:442835
HP:0001315	Reduced tendon reflexes	25977	NECAP1	ORPHA:442835
HP:0001315	Reduced tendon reflexes	23241	PACS2	ORPHA:442835
HP:0001315	Reduced tendon reflexes	16	AARS1	ORPHA:442835
HP:0001315	Reduced tendon reflexes	6334	SCN8A	ORPHA:442835
HP:0001315	Reduced tendon reflexes	9568	GABBR2	ORPHA:442835
HP:0001315	Reduced tendon reflexes	2555	GABRA2	ORPHA:442835
HP:0001315	Reduced tendon reflexes	55152	DALRD3	ORPHA:442835
HP:0001315	Reduced tendon reflexes	26999	CYFIP2	ORPHA:442835
HP:0001315	Reduced tendon reflexes	4915	NTRK2	ORPHA:442835
HP:0001315	Reduced tendon reflexes	25973	PARS2	ORPHA:442835
HP:0001315	Reduced tendon reflexes	23097	CDK19	ORPHA:442835
HP:0001315	Reduced tendon reflexes	2257	FGF12	ORPHA:442835
HP:0001315	Reduced tendon reflexes	5530	PPP3CA	ORPHA:442835
HP:0001315	Reduced tendon reflexes	478	ATP1A3	ORPHA:442835
HP:0001315	Reduced tendon reflexes	22906	TRAK1	ORPHA:442835
HP:0001315	Reduced tendon reflexes	2566	GABRG2	ORPHA:442835
HP:0001315	Reduced tendon reflexes	7532	YWHAG	ORPHA:442835
HP:0001315	Reduced tendon reflexes	79876	UBA5	ORPHA:442835
HP:0001315	Reduced tendon reflexes	6328	SCN3A	ORPHA:442835
HP:0001315	Reduced tendon reflexes	781	CACNA2D1	ORPHA:442835
HP:0001315	Reduced tendon reflexes	10659	CELF2	ORPHA:442835
HP:0001315	Reduced tendon reflexes	774	CACNA1B	ORPHA:442835
HP:0001315	Reduced tendon reflexes	51412	ACTL6B	ORPHA:442835
HP:0001315	Reduced tendon reflexes	2290	FOXG1	ORPHA:442835
HP:0001315	Reduced tendon reflexes	6506	SLC1A2	ORPHA:442835
HP:0001315	Reduced tendon reflexes	8867	SYNJ1	ORPHA:442835
HP:0001315	Reduced tendon reflexes	477	ATP1A2	ORPHA:442835
HP:0001315	Reduced tendon reflexes	3745	KCNB1	ORPHA:442835
HP:0001315	Reduced tendon reflexes	284111	SLC13A5	ORPHA:442835
HP:0001315	Reduced tendon reflexes	22866	CNKSR2	ORPHA:442835
HP:0001315	Reduced tendon reflexes	773	CACNA1A	ORPHA:442835
HP:0001315	Reduced tendon reflexes	6323	SCN1A	ORPHA:442835
HP:0001315	Reduced tendon reflexes	79947	DHDDS	ORPHA:442835
HP:0001315	Reduced tendon reflexes	29967	LRP12	OMIM:620452
HP:0001315	Reduced tendon reflexes	51128	SAR1B	OMIM:246700
HP:0001315	Reduced tendon reflexes	5621	PRNP	ORPHA:356
HP:0001315	Reduced tendon reflexes	1621	DBH	ORPHA:230
HP:0001315	Reduced tendon reflexes	7415	VCP	ORPHA:435387
HP:0001315	Reduced tendon reflexes	338	APOB	OMIM:615558
HP:0001315	Reduced tendon reflexes	246329	STAC3	ORPHA:168572
HP:0001315	Reduced tendon reflexes	5162	PDHB	ORPHA:255138
HP:0001315	Reduced tendon reflexes	6872	TAF1	OMIM:300966
HP:0001315	Reduced tendon reflexes	57462	MYORG	OMIM:618317
HP:0001315	Reduced tendon reflexes	84033	OBSCN	ORPHA:99845
HP:0001315	Reduced tendon reflexes	23175	LPIN1	ORPHA:99845
HP:0001315	Reduced tendon reflexes	4512	MT-CO1	ORPHA:99845
HP:0001315	Reduced tendon reflexes	4514	MT-CO3	ORPHA:99845
HP:0001315	Reduced tendon reflexes	1134	CHRNA1	ORPHA:98913
HP:0001315	Reduced tendon reflexes	4038	LRP4	ORPHA:98913
HP:0001315	Reduced tendon reflexes	1305	COL13A1	ORPHA:98913
HP:0001315	Reduced tendon reflexes	1140	CHRNB1	ORPHA:98913
HP:0001315	Reduced tendon reflexes	1144	CHRND	ORPHA:98913
HP:0001315	Reduced tendon reflexes	1145	CHRNE	ORPHA:98913
HP:0001315	Reduced tendon reflexes	4593	MUSK	ORPHA:98913
HP:0001315	Reduced tendon reflexes	5913	RAPSN	ORPHA:98913
HP:0001315	Reduced tendon reflexes	375790	AGRN	ORPHA:98913
HP:0001315	Reduced tendon reflexes	221264	AK9	ORPHA:98913
HP:0001315	Reduced tendon reflexes	285489	DOK7	ORPHA:98913
HP:0001315	Reduced tendon reflexes	34	ACADM	ORPHA:42
HP:0001315	Reduced tendon reflexes	26047	CNTNAP2	OMIM:610042
HP:0001315	Reduced tendon reflexes	122622	ADSS1	ORPHA:482601
HP:0001315	Reduced tendon reflexes	2273	FHL1	ORPHA:98863
HP:0001315	Reduced tendon reflexes	2010	EMD	ORPHA:98863
HP:0001315	Reduced tendon reflexes	60681	FKBP10	ORPHA:1149
HP:0001315	Reduced tendon reflexes	1795	DOCK3	OMIM:618292
HP:0001315	Reduced tendon reflexes	4509	MT-ATP8	ORPHA:480
HP:0001315	Reduced tendon reflexes	4567	MT-TL1	ORPHA:480
HP:0001315	Reduced tendon reflexes	50484	RRM2B	ORPHA:480
HP:0001315	Reduced tendon reflexes	54344	DPM3	ORPHA:263494
HP:0001315	Reduced tendon reflexes	55670	PEX26	ORPHA:912
HP:0001315	Reduced tendon reflexes	5824	PEX19	ORPHA:912
HP:0001315	Reduced tendon reflexes	5828	PEX2	ORPHA:912
HP:0001315	Reduced tendon reflexes	8504	PEX3	ORPHA:912
HP:0001315	Reduced tendon reflexes	8799	PEX11B	ORPHA:912
HP:0001315	Reduced tendon reflexes	9409	PEX16	ORPHA:912
HP:0001315	Reduced tendon reflexes	5190	PEX6	ORPHA:912
HP:0001315	Reduced tendon reflexes	5830	PEX5	ORPHA:912
HP:0001315	Reduced tendon reflexes	5189	PEX1	ORPHA:912
HP:0001315	Reduced tendon reflexes	5193	PEX12	ORPHA:912
HP:0001315	Reduced tendon reflexes	5194	PEX13	ORPHA:912
HP:0001315	Reduced tendon reflexes	5195	PEX14	ORPHA:912
HP:0001315	Reduced tendon reflexes	5192	PEX10	ORPHA:912
HP:0001315	Reduced tendon reflexes	23064	SETX	OMIM:606002
HP:0001315	Reduced tendon reflexes	5696	PSMB8	OMIM:256040
HP:0001315	Reduced tendon reflexes	3156	HMGCR	OMIM:620375
HP:0001315	Reduced tendon reflexes	3315	HSPB1	ORPHA:99940
HP:0001315	Reduced tendon reflexes	50846	DHH	ORPHA:168563
HP:0001315	Reduced tendon reflexes	79188	TMEM43	ORPHA:98853
HP:0001315	Reduced tendon reflexes	23224	SYNE2	ORPHA:98853
HP:0001315	Reduced tendon reflexes	4000	LMNA	ORPHA:98853
HP:0001315	Reduced tendon reflexes	7507	XPA	ORPHA:910
HP:0001315	Reduced tendon reflexes	2071	ERCC3	ORPHA:910
HP:0001315	Reduced tendon reflexes	7508	XPC	ORPHA:910
HP:0001315	Reduced tendon reflexes	1643	DDB2	ORPHA:910
HP:0001315	Reduced tendon reflexes	2072	ERCC4	ORPHA:910
HP:0001315	Reduced tendon reflexes	2395	FXN	OMIM:229300
HP:0001315	Reduced tendon reflexes	2395	FXN	ORPHA:95
HP:0001315	Reduced tendon reflexes	2733	GLE1	OMIM:611890
HP:0001315	Reduced tendon reflexes	80208	SPG11	OMIM:616668
HP:0001315	Reduced tendon reflexes	4618	MYF6	ORPHA:169189
HP:0001315	Reduced tendon reflexes	6548	SLC9A1	OMIM:616291
HP:0001315	Reduced tendon reflexes	5611	DNAJC3	OMIM:616192
HP:0001315	Reduced tendon reflexes	5611	DNAJC3	ORPHA:445062
HP:0001315	Reduced tendon reflexes	8557	TCAP	OMIM:601954
HP:0001315	Reduced tendon reflexes	8884	SLC5A6	OMIM:619903
HP:0001315	Reduced tendon reflexes	84876	ORAI1	OMIM:615883
HP:0001315	Reduced tendon reflexes	3708	ITPR1	OMIM:206700
HP:0001315	Reduced tendon reflexes	374393	FAM111B	OMIM:615704
HP:0001315	Reduced tendon reflexes	3710	ITPR3	OMIM:620111
HP:0001315	Reduced tendon reflexes	23769	FLRT1	ORPHA:320406
HP:0001315	Reduced tendon reflexes	64837	KLC2	ORPHA:320406
HP:0001315	Reduced tendon reflexes	25923	ATL3	OMIM:615632
HP:0001315	Reduced tendon reflexes	6709	SPTAN1	OMIM:620528
HP:0001315	Reduced tendon reflexes	5582	PRKCG	ORPHA:98763
HP:0001315	Reduced tendon reflexes	1674	DES	OMIM:601419
HP:0001315	Reduced tendon reflexes	9517	SPTLC2	OMIM:613640
HP:0001315	Reduced tendon reflexes	22868	FASTKD2	OMIM:618855
HP:0001315	Reduced tendon reflexes	6786	STIM1	OMIM:160565
HP:0001315	Reduced tendon reflexes	11155	LDB3	OMIM:609452
HP:0001315	Reduced tendon reflexes	4287	ATXN3	OMIM:109150
HP:0001315	Reduced tendon reflexes	23204	ARL6IP1	OMIM:615685
HP:0001315	Reduced tendon reflexes	3035	HARS1	ORPHA:488333
HP:0001315	Reduced tendon reflexes	3035	HARS1	OMIM:616625
HP:0001315	Reduced tendon reflexes	26278	SACS	OMIM:270550
HP:0001315	Reduced tendon reflexes	26278	SACS	ORPHA:98
HP:0001315	Reduced tendon reflexes	10280	SIGMAR1	OMIM:605726
HP:0001315	Reduced tendon reflexes	5832	ALDH18A1	ORPHA:447757
HP:0001315	Reduced tendon reflexes	5832	ALDH18A1	ORPHA:447760
HP:0001315	Reduced tendon reflexes	10020	GNE	ORPHA:602
HP:0001315	Reduced tendon reflexes	84342	COG8	OMIM:611182
HP:0001315	Reduced tendon reflexes	1861	TOR1A	OMIM:128100
HP:0001315	Reduced tendon reflexes	5700	PSMC1	OMIM:620071
HP:0001315	Reduced tendon reflexes	55958	KLHL9	ORPHA:399081
HP:0001315	Reduced tendon reflexes	5375	PMP2	OMIM:618279
HP:0001315	Reduced tendon reflexes	3977	LIFR	OMIM:601559
HP:0001315	Reduced tendon reflexes	3977	LIFR	ORPHA:3206
HP:0001315	Reduced tendon reflexes	8988	HSPB3	OMIM:613376
HP:0001315	Reduced tendon reflexes	81545	FBXO38	OMIM:615575
HP:0001315	Reduced tendon reflexes	5165	PDK3	OMIM:300905
HP:0001315	Reduced tendon reflexes	10516	FBLN5	OMIM:608895
HP:0001315	Reduced tendon reflexes	10079	ATP9A	OMIM:620242
HP:0001315	Reduced tendon reflexes	22943	DKK1	ORPHA:268882
HP:0001315	Reduced tendon reflexes	7504	XK	OMIM:300842
HP:0001315	Reduced tendon reflexes	51	ACOX1	OMIM:618960
HP:0001315	Reduced tendon reflexes	8869	ST3GAL5	OMIM:609056
HP:0001315	Reduced tendon reflexes	81570	CLPB	OMIM:616271
HP:0001315	Reduced tendon reflexes	11280	SCN11A	ORPHA:90026
HP:0001315	Reduced tendon reflexes	6336	SCN10A	ORPHA:90026
HP:0001317	Abnormal cerebellum morphology	10749	KIF1C	ORPHA:397946
HP:0001317	Abnormal cerebellum morphology	10749	KIF1C	OMIM:611302
HP:0001317	Abnormal cerebellum morphology	4287	ATXN3	OMIM:109150
HP:0001317	Abnormal cerebellum morphology	4287	ATXN3	ORPHA:276238
HP:0001317	Abnormal cerebellum morphology	4287	ATXN3	ORPHA:276244
HP:0001317	Abnormal cerebellum morphology	4287	ATXN3	ORPHA:276241
HP:0001317	Abnormal cerebellum morphology	23646	PLD3	OMIM:617770
HP:0001317	Abnormal cerebellum morphology	55703	POLR3B	OMIM:614381
HP:0001317	Abnormal cerebellum morphology	55703	POLR3B	OMIM:619742
HP:0001317	Abnormal cerebellum morphology	55703	POLR3B	OMIM:607694
HP:0001317	Abnormal cerebellum morphology	26235	FBXL4	OMIM:615471
HP:0001317	Abnormal cerebellum morphology	4099	MAG	OMIM:616680
HP:0001317	Abnormal cerebellum morphology	51399	TRAPPC4	OMIM:618741
HP:0001317	Abnormal cerebellum morphology	3703	STT3A	OMIM:615596
HP:0001317	Abnormal cerebellum morphology	3703	STT3A	ORPHA:370921
HP:0001317	Abnormal cerebellum morphology	55823	VPS11	OMIM:616683
HP:0001317	Abnormal cerebellum morphology	55823	VPS11	ORPHA:466934
HP:0001317	Abnormal cerebellum morphology	51569	UFM1	OMIM:617899
HP:0001317	Abnormal cerebellum morphology	23446	SLC44A1	OMIM:618868
HP:0001317	Abnormal cerebellum morphology	2895	GRID2	OMIM:616204
HP:0001317	Abnormal cerebellum morphology	6659	SOX4	OMIM:618506
HP:0001317	Abnormal cerebellum morphology	201595	STT3B	OMIM:615597
HP:0001317	Abnormal cerebellum morphology	201595	STT3B	ORPHA:370924
HP:0001317	Abnormal cerebellum morphology	60684	TRAPPC11	OMIM:615356
HP:0001317	Abnormal cerebellum morphology	100996717	NOTCH2NLC	OMIM:618866
HP:0001317	Abnormal cerebellum morphology	81570	CLPB	OMIM:619835
HP:0001317	Abnormal cerebellum morphology	81570	CLPB	OMIM:616271
HP:0001317	Abnormal cerebellum morphology	81570	CLPB	ORPHA:445038
HP:0001317	Abnormal cerebellum morphology	1786	DNMT1	ORPHA:314404
HP:0001317	Abnormal cerebellum morphology	1786	DNMT1	OMIM:604121
HP:0001317	Abnormal cerebellum morphology	84942	WDR73	OMIM:251300
HP:0001317	Abnormal cerebellum morphology	10159	ATP6AP2	ORPHA:93952
HP:0001317	Abnormal cerebellum morphology	10159	ATP6AP2	OMIM:300423
HP:0001317	Abnormal cerebellum morphology	6687	SPG7	ORPHA:99013
HP:0001317	Abnormal cerebellum morphology	6687	SPG7	OMIM:607259
HP:0001317	Abnormal cerebellum morphology	4125	MAN2B1	ORPHA:309282
HP:0001317	Abnormal cerebellum morphology	4125	MAN2B1	ORPHA:309288
HP:0001317	Abnormal cerebellum morphology	4125	MAN2B1	OMIM:248500
HP:0001317	Abnormal cerebellum morphology	3074	HEXB	ORPHA:309162
HP:0001317	Abnormal cerebellum morphology	10908	PNPLA6	ORPHA:139480
HP:0001317	Abnormal cerebellum morphology	10908	PNPLA6	OMIM:215470
HP:0001317	Abnormal cerebellum morphology	10908	PNPLA6	OMIM:612020
HP:0001317	Abnormal cerebellum morphology	65993	MRPS34	OMIM:617664
HP:0001317	Abnormal cerebellum morphology	10300	KATNB1	OMIM:616212
HP:0001317	Abnormal cerebellum morphology	10300	KATNB1	ORPHA:89844
HP:0001317	Abnormal cerebellum morphology	8722	CTSF	OMIM:615362
HP:0001317	Abnormal cerebellum morphology	10528	NOP56	OMIM:614153
HP:0001317	Abnormal cerebellum morphology	56997	COQ8A	ORPHA:139485
HP:0001317	Abnormal cerebellum morphology	56997	COQ8A	OMIM:612016
HP:0001317	Abnormal cerebellum morphology	10026	PIGK	OMIM:618879
HP:0001317	Abnormal cerebellum morphology	477	ATP1A2	OMIM:619605
HP:0001317	Abnormal cerebellum morphology	477	ATP1A2	OMIM:602481
HP:0001317	Abnormal cerebellum morphology	477	ATP1A2	ORPHA:569
HP:0001317	Abnormal cerebellum morphology	478	ATP1A3	OMIM:619606
HP:0001317	Abnormal cerebellum morphology	478	ATP1A3	ORPHA:71517
HP:0001317	Abnormal cerebellum morphology	3145	HMBS	OMIM:620711
HP:0001317	Abnormal cerebellum morphology	10501	SEMA6B	OMIM:618876
HP:0001317	Abnormal cerebellum morphology	84520	GON7	OMIM:619603
HP:0001317	Abnormal cerebellum morphology	55768	NGLY1	ORPHA:404454
HP:0001317	Abnormal cerebellum morphology	1161	ERCC8	OMIM:216400
HP:0001317	Abnormal cerebellum morphology	79693	YRDC	OMIM:619609
HP:0001317	Abnormal cerebellum morphology	146057	TTBK2	OMIM:604432
HP:0001317	Abnormal cerebellum morphology	219285	SAMD9L	OMIM:159550
HP:0001317	Abnormal cerebellum morphology	219285	SAMD9L	ORPHA:2585
HP:0001317	Abnormal cerebellum morphology	219285	SAMD9L	OMIM:619806
HP:0001317	Abnormal cerebellum morphology	535	ATP6V0A1	OMIM:619971
HP:0001317	Abnormal cerebellum morphology	7345	UCHL1	OMIM:615491
HP:0001317	Abnormal cerebellum morphology	347733	TUBB2B	ORPHA:300573
HP:0001317	Abnormal cerebellum morphology	7343	UBTF	OMIM:617672
HP:0001317	Abnormal cerebellum morphology	816	CAMK2B	OMIM:617799
HP:0001317	Abnormal cerebellum morphology	10352	WARS2	OMIM:619738
HP:0001317	Abnormal cerebellum morphology	10352	WARS2	ORPHA:572798
HP:0001317	Abnormal cerebellum morphology	10352	WARS2	OMIM:617710
HP:0001317	Abnormal cerebellum morphology	6573	SLC19A1	OMIM:620603
HP:0001317	Abnormal cerebellum morphology	3064	HTT	OMIM:617435
HP:0001317	Abnormal cerebellum morphology	3064	HTT	OMIM:143100
HP:0001317	Abnormal cerebellum morphology	3064	HTT	ORPHA:248111
HP:0001317	Abnormal cerebellum morphology	7436	VLDLR	OMIM:224050
HP:0001317	Abnormal cerebellum morphology	9326	ZNHIT3	ORPHA:2836
HP:0001317	Abnormal cerebellum morphology	9326	ZNHIT3	OMIM:260565
HP:0001317	Abnormal cerebellum morphology	8560	DEGS1	OMIM:618404
HP:0001317	Abnormal cerebellum morphology	10939	AFG3L2	ORPHA:313772
HP:0001317	Abnormal cerebellum morphology	10939	AFG3L2	OMIM:610246
HP:0001317	Abnormal cerebellum morphology	10939	AFG3L2	OMIM:614487
HP:0001317	Abnormal cerebellum morphology	1130	LYST	ORPHA:167
HP:0001317	Abnormal cerebellum morphology	343641	TGM6	ORPHA:276193
HP:0001317	Abnormal cerebellum morphology	343641	TGM6	OMIM:613908
HP:0001317	Abnormal cerebellum morphology	10715	CERS1	OMIM:616230
HP:0001317	Abnormal cerebellum morphology	84504	NKX6-2	OMIM:617560
HP:0001317	Abnormal cerebellum morphology	84504	NKX6-2	ORPHA:527497
HP:0001317	Abnormal cerebellum morphology	10935	PRDX3	OMIM:619862
HP:0001317	Abnormal cerebellum morphology	2744	GLS	OMIM:618412
HP:0001317	Abnormal cerebellum morphology	6712	SPTBN2	OMIM:615386
HP:0001317	Abnormal cerebellum morphology	6712	SPTBN2	OMIM:600224
HP:0001317	Abnormal cerebellum morphology	6712	SPTBN2	ORPHA:98766
HP:0001317	Abnormal cerebellum morphology	6712	SPTBN2	ORPHA:352403
HP:0001317	Abnormal cerebellum morphology	57231	SNX14	OMIM:616354
HP:0001317	Abnormal cerebellum morphology	83636	C19orf12	OMIM:614298
HP:0001317	Abnormal cerebellum morphology	833	CARS1	OMIM:618891
HP:0001317	Abnormal cerebellum morphology	54872	PIGG	ORPHA:488635
HP:0001317	Abnormal cerebellum morphology	57178	ZMIZ1	OMIM:618659
HP:0001317	Abnormal cerebellum morphology	246243	RNASEH1	OMIM:616479
HP:0001317	Abnormal cerebellum morphology	51761	ATP8A2	OMIM:615268
HP:0001317	Abnormal cerebellum morphology	54840	APTX	OMIM:208920
HP:0001317	Abnormal cerebellum morphology	79731	NARS2	OMIM:616239
HP:0001317	Abnormal cerebellum morphology	6905	TBCE	OMIM:617207
HP:0001317	Abnormal cerebellum morphology	6905	TBCE	ORPHA:496756
HP:0001317	Abnormal cerebellum morphology	950	SCARB2	OMIM:254900
HP:0001317	Abnormal cerebellum morphology	5373	PMM2	OMIM:212065
HP:0001317	Abnormal cerebellum morphology	2074	ERCC6	OMIM:214150
HP:0001317	Abnormal cerebellum morphology	253738	EBF3	OMIM:617330
HP:0001317	Abnormal cerebellum morphology	1186	CLCN7	OMIM:618541
HP:0001317	Abnormal cerebellum morphology	2911	GRM1	OMIM:617691
HP:0001317	Abnormal cerebellum morphology	2911	GRM1	OMIM:614831
HP:0001317	Abnormal cerebellum morphology	55621	TRMT1	OMIM:618302
HP:0001317	Abnormal cerebellum morphology	51604	PIGT	OMIM:615398
HP:0001317	Abnormal cerebellum morphology	51604	PIGT	ORPHA:369837
HP:0001317	Abnormal cerebellum morphology	55280	CWF19L1	OMIM:616127
HP:0001317	Abnormal cerebellum morphology	54902	TTC19	OMIM:615157
HP:0001317	Abnormal cerebellum morphology	1660	DHX9	OMIM:620988
HP:0001317	Abnormal cerebellum morphology	3098	HK1	OMIM:618547
HP:0001317	Abnormal cerebellum morphology	8021	NUP214	OMIM:618426
HP:0001317	Abnormal cerebellum morphology	4191	MDH2	OMIM:617339
HP:0001317	Abnormal cerebellum morphology	150468	CKAP2L	OMIM:272440
HP:0001317	Abnormal cerebellum morphology	285362	SUMF1	OMIM:272200
HP:0001317	Abnormal cerebellum morphology	56052	ALG1	ORPHA:79327
HP:0001317	Abnormal cerebellum morphology	79796	ALG9	ORPHA:79328
HP:0001317	Abnormal cerebellum morphology	79796	ALG9	OMIM:608776
HP:0001317	Abnormal cerebellum morphology	3766	KCNJ10	ORPHA:199343
HP:0001317	Abnormal cerebellum morphology	3766	KCNJ10	OMIM:612780
HP:0001317	Abnormal cerebellum morphology	55210	ATAD3A	ORPHA:496790
HP:0001317	Abnormal cerebellum morphology	55210	ATAD3A	OMIM:617183
HP:0001317	Abnormal cerebellum morphology	9533	POLR1C	OMIM:616494
HP:0001317	Abnormal cerebellum morphology	54828	BCAS3	OMIM:619641
HP:0001317	Abnormal cerebellum morphology	8733	GPAA1	ORPHA:529665
HP:0001317	Abnormal cerebellum morphology	8733	GPAA1	OMIM:617810
HP:0001317	Abnormal cerebellum morphology	2232	FDXR	ORPHA:543470
HP:0001317	Abnormal cerebellum morphology	56947	MFF	ORPHA:485421
HP:0001317	Abnormal cerebellum morphology	56947	MFF	OMIM:617086
HP:0001317	Abnormal cerebellum morphology	4076	CAPRIN1	OMIM:620636
HP:0001317	Abnormal cerebellum morphology	6621	SNAPC4	OMIM:620515
HP:0001317	Abnormal cerebellum morphology	22	ABCB7	ORPHA:2802
HP:0001317	Abnormal cerebellum morphology	22	ABCB7	OMIM:301310
HP:0001317	Abnormal cerebellum morphology	23400	ATP13A2	OMIM:617225
HP:0001317	Abnormal cerebellum morphology	23400	ATP13A2	ORPHA:513436
HP:0001317	Abnormal cerebellum morphology	57466	SCAF4	OMIM:620511
HP:0001317	Abnormal cerebellum morphology	10531	PITRM1	OMIM:619405
HP:0001317	Abnormal cerebellum morphology	146227	BEAN1	ORPHA:217012
HP:0001317	Abnormal cerebellum morphology	146227	BEAN1	OMIM:117210
HP:0001317	Abnormal cerebellum morphology	256471	MFSD8	OMIM:610951
HP:0001317	Abnormal cerebellum morphology	91949	COG7	ORPHA:79333
HP:0001317	Abnormal cerebellum morphology	91949	COG7	OMIM:608779
HP:0001317	Abnormal cerebellum morphology	56652	TWNK	OMIM:271245
HP:0001317	Abnormal cerebellum morphology	56652	TWNK	ORPHA:254892
HP:0001317	Abnormal cerebellum morphology	23556	PIGN	OMIM:614080
HP:0001317	Abnormal cerebellum morphology	23556	PIGN	ORPHA:280633
HP:0001317	Abnormal cerebellum morphology	51651	PTRH2	OMIM:616263
HP:0001317	Abnormal cerebellum morphology	23007	PLCH1	OMIM:619895
HP:0001317	Abnormal cerebellum morphology	23162	MAPK8IP3	OMIM:618443
HP:0001317	Abnormal cerebellum morphology	197258	FCSK	OMIM:618324
HP:0001317	Abnormal cerebellum morphology	11284	PNKP	OMIM:616267
HP:0001317	Abnormal cerebellum morphology	11284	PNKP	ORPHA:1934
HP:0001317	Abnormal cerebellum morphology	11284	PNKP	OMIM:613402
HP:0001317	Abnormal cerebellum morphology	259232	NALCN	OMIM:616266
HP:0001317	Abnormal cerebellum morphology	339855	KY	ORPHA:496689
HP:0001317	Abnormal cerebellum morphology	125988	MICOS13	OMIM:618329
HP:0001317	Abnormal cerebellum morphology	29960	MRM2	OMIM:618567
HP:0001317	Abnormal cerebellum morphology	2055	CLN8	ORPHA:1947
HP:0001317	Abnormal cerebellum morphology	2055	CLN8	OMIM:600143
HP:0001317	Abnormal cerebellum morphology	2055	CLN8	OMIM:610003
HP:0001317	Abnormal cerebellum morphology	8813	DPM1	ORPHA:79322
HP:0001317	Abnormal cerebellum morphology	57192	MCOLN1	OMIM:252650
HP:0001317	Abnormal cerebellum morphology	10195	ALG3	OMIM:601110
HP:0001317	Abnormal cerebellum morphology	85300	ATCAY	OMIM:601238
HP:0001317	Abnormal cerebellum morphology	91137	SLC25A46	OMIM:619303
HP:0001317	Abnormal cerebellum morphology	91137	SLC25A46	OMIM:616505
HP:0001317	Abnormal cerebellum morphology	58497	PRUNE1	OMIM:617481
HP:0001317	Abnormal cerebellum morphology	58497	PRUNE1	ORPHA:544469
HP:0001317	Abnormal cerebellum morphology	5111	PCNA	ORPHA:438134
HP:0001317	Abnormal cerebellum morphology	5111	PCNA	OMIM:615919
HP:0001317	Abnormal cerebellum morphology	3980	LIG3	OMIM:619780
HP:0001317	Abnormal cerebellum morphology	51117	COQ4	OMIM:616276
HP:0001317	Abnormal cerebellum morphology	51117	COQ4	OMIM:620666
HP:0001317	Abnormal cerebellum morphology	133686	NADK2	OMIM:616034
HP:0001317	Abnormal cerebellum morphology	133686	NADK2	ORPHA:431361
HP:0001317	Abnormal cerebellum morphology	6709	SPTAN1	OMIM:620538
HP:0001317	Abnormal cerebellum morphology	6709	SPTAN1	OMIM:620540
HP:0001317	Abnormal cerebellum morphology	6709	SPTAN1	OMIM:613477
HP:0001317	Abnormal cerebellum morphology	11232	POLG2	OMIM:619425
HP:0001317	Abnormal cerebellum morphology	11232	POLG2	ORPHA:254892
HP:0001317	Abnormal cerebellum morphology	11232	POLG2	OMIM:610131
HP:0001317	Abnormal cerebellum morphology	5277	PIGA	OMIM:301072
HP:0001317	Abnormal cerebellum morphology	5277	PIGA	OMIM:300868
HP:0001317	Abnormal cerebellum morphology	6792	CDKL5	ORPHA:1934
HP:0001317	Abnormal cerebellum morphology	3736	KCNA1	ORPHA:1934
HP:0001317	Abnormal cerebellum morphology	3736	KCNA1	ORPHA:37612
HP:0001317	Abnormal cerebellum morphology	9091	PIGQ	ORPHA:1934
HP:0001317	Abnormal cerebellum morphology	140679	SLC32A1	ORPHA:1934
HP:0001317	Abnormal cerebellum morphology	2775	GNAO1	ORPHA:1934
HP:0001317	Abnormal cerebellum morphology	2775	GNAO1	OMIM:617493
HP:0001317	Abnormal cerebellum morphology	81603	TRIM8	ORPHA:1934
HP:0001317	Abnormal cerebellum morphology	2902	GRIN1	ORPHA:1934
HP:0001317	Abnormal cerebellum morphology	2902	GRIN1	OMIM:614254
HP:0001317	Abnormal cerebellum morphology	79751	SLC25A22	ORPHA:1934
HP:0001317	Abnormal cerebellum morphology	150094	SIK1	ORPHA:1934
HP:0001317	Abnormal cerebellum morphology	8573	CASK	ORPHA:1934
HP:0001317	Abnormal cerebellum morphology	23312	DMXL2	ORPHA:1934
HP:0001317	Abnormal cerebellum morphology	2917	GRM7	ORPHA:1934
HP:0001317	Abnormal cerebellum morphology	2917	GRM7	OMIM:618922
HP:0001317	Abnormal cerebellum morphology	170302	ARX	ORPHA:1934
HP:0001317	Abnormal cerebellum morphology	6326	SCN2A	ORPHA:1934
HP:0001317	Abnormal cerebellum morphology	51227	PIGP	ORPHA:1934
HP:0001317	Abnormal cerebellum morphology	6324	SCN1B	ORPHA:1934
HP:0001317	Abnormal cerebellum morphology	4761	NEUROD2	ORPHA:1934
HP:0001317	Abnormal cerebellum morphology	291	SLC25A4	ORPHA:254892
HP:0001317	Abnormal cerebellum morphology	5428	POLG	ORPHA:254892
HP:0001317	Abnormal cerebellum morphology	5428	POLG	OMIM:258450
HP:0001317	Abnormal cerebellum morphology	5428	POLG	ORPHA:254886
HP:0001317	Abnormal cerebellum morphology	5428	POLG	OMIM:203700
HP:0001317	Abnormal cerebellum morphology	50484	RRM2B	ORPHA:254892
HP:0001317	Abnormal cerebellum morphology	10059	DNM1L	ORPHA:330050
HP:0001317	Abnormal cerebellum morphology	10059	DNM1L	ORPHA:98673
HP:0001317	Abnormal cerebellum morphology	8925	HERC1	OMIM:617011
HP:0001317	Abnormal cerebellum morphology	79876	UBA5	OMIM:617132
HP:0001317	Abnormal cerebellum morphology	79876	UBA5	OMIM:617133
HP:0001317	Abnormal cerebellum morphology	10466	COG5	ORPHA:263487
HP:0001317	Abnormal cerebellum morphology	10466	COG5	OMIM:613612
HP:0001317	Abnormal cerebellum morphology	9759	HDAC4	OMIM:619797
HP:0001317	Abnormal cerebellum morphology	23516	SLC39A14	OMIM:617013
HP:0001317	Abnormal cerebellum morphology	23516	SLC39A14	ORPHA:521406
HP:0001317	Abnormal cerebellum morphology	8506	CNTNAP1	OMIM:616286
HP:0001317	Abnormal cerebellum morphology	8506	CNTNAP1	OMIM:618186
HP:0001317	Abnormal cerebellum morphology	23345	SYNE1	ORPHA:88644
HP:0001317	Abnormal cerebellum morphology	23345	SYNE1	OMIM:610743
HP:0001317	Abnormal cerebellum morphology	51728	POLR3K	OMIM:619310
HP:0001317	Abnormal cerebellum morphology	2495	FTH1	OMIM:620669
HP:0001317	Abnormal cerebellum morphology	1317	SLC31A1	OMIM:620306
HP:0001317	Abnormal cerebellum morphology	54973	INTS11	OMIM:620428
HP:0001317	Abnormal cerebellum morphology	10785	WDR4	OMIM:618347
HP:0001317	Abnormal cerebellum morphology	4719	NDUFS1	OMIM:618226
HP:0001317	Abnormal cerebellum morphology	51412	ACTL6B	OMIM:618468
HP:0001317	Abnormal cerebellum morphology	11267	SNF8	OMIM:620784
HP:0001317	Abnormal cerebellum morphology	11267	SNF8	OMIM:620783
HP:0001317	Abnormal cerebellum morphology	84320	ACBD6	OMIM:620785
HP:0001317	Abnormal cerebellum morphology	3708	ITPR1	ORPHA:208513
HP:0001317	Abnormal cerebellum morphology	3708	ITPR1	OMIM:206700
HP:0001317	Abnormal cerebellum morphology	3708	ITPR1	ORPHA:98769
HP:0001317	Abnormal cerebellum morphology	3708	ITPR1	OMIM:117360
HP:0001317	Abnormal cerebellum morphology	3708	ITPR1	OMIM:606658
HP:0001317	Abnormal cerebellum morphology	4838	NODAL	OMIM:270100
HP:0001317	Abnormal cerebellum morphology	6507	SLC1A3	ORPHA:209967
HP:0001317	Abnormal cerebellum morphology	6507	SLC1A3	OMIM:612656
HP:0001317	Abnormal cerebellum morphology	128869	PIGU	OMIM:618590
HP:0001317	Abnormal cerebellum morphology	10733	PLK4	OMIM:616171
HP:0001317	Abnormal cerebellum morphology	6548	SLC9A1	OMIM:616291
HP:0001317	Abnormal cerebellum morphology	55610	VPS50	OMIM:619685
HP:0001317	Abnormal cerebellum morphology	7084	TK2	ORPHA:254886
HP:0001317	Abnormal cerebellum morphology	23102	TBC1D2B	OMIM:619323
HP:0001317	Abnormal cerebellum morphology	23114	NFASC	OMIM:618356
HP:0001317	Abnormal cerebellum morphology	6647	SOD1	OMIM:618598
HP:0001317	Abnormal cerebellum morphology	92667	MGME1	OMIM:615084
HP:0001317	Abnormal cerebellum morphology	92667	MGME1	ORPHA:352447
HP:0001317	Abnormal cerebellum morphology	25814	ATXN10	OMIM:603516
HP:0001317	Abnormal cerebellum morphology	25814	ATXN10	ORPHA:98761
HP:0001317	Abnormal cerebellum morphology	5649	RELN	ORPHA:89844
HP:0001317	Abnormal cerebellum morphology	54820	NDE1	ORPHA:89844
HP:0001317	Abnormal cerebellum morphology	51601	LIPT1	OMIM:616299
HP:0001317	Abnormal cerebellum morphology	8878	SQSTM1	OMIM:617145
HP:0001317	Abnormal cerebellum morphology	29078	NDUFAF4	OMIM:618237
HP:0001317	Abnormal cerebellum morphology	11152	WDR45	ORPHA:329284
HP:0001317	Abnormal cerebellum morphology	11152	WDR45	OMIM:300894
HP:0001317	Abnormal cerebellum morphology	25885	POLR1A	OMIM:620675
HP:0001317	Abnormal cerebellum morphology	10073	SNUPN	OMIM:620793
HP:0001317	Abnormal cerebellum morphology	154881	KCTD7	OMIM:611726
HP:0001317	Abnormal cerebellum morphology	154881	KCTD7	ORPHA:263516
HP:0001317	Abnormal cerebellum morphology	9179	AP4M1	OMIM:612936
HP:0001317	Abnormal cerebellum morphology	9179	AP4M1	ORPHA:280763
HP:0001317	Abnormal cerebellum morphology	79944	L2HGDH	OMIM:236792
HP:0001317	Abnormal cerebellum morphology	6904	TBCD	ORPHA:496641
HP:0001317	Abnormal cerebellum morphology	6904	TBCD	OMIM:617193
HP:0001317	Abnormal cerebellum morphology	4976	OPA1	ORPHA:98673
HP:0001317	Abnormal cerebellum morphology	4976	OPA1	OMIM:210000
HP:0001317	Abnormal cerebellum morphology	5934	RBL2	OMIM:619690
HP:0001317	Abnormal cerebellum morphology	25929	GEMIN5	OMIM:619333
HP:0001317	Abnormal cerebellum morphology	4621	MYH3	OMIM:193700
HP:0001317	Abnormal cerebellum morphology	56915	EXOSC5	OMIM:619576
HP:0001317	Abnormal cerebellum morphology	10588	MTHFS	OMIM:618367
HP:0001317	Abnormal cerebellum morphology	4704	NDUFA9	OMIM:618247
HP:0001317	Abnormal cerebellum morphology	55572	FOXRED1	OMIM:618241
HP:0001317	Abnormal cerebellum morphology	3746	KCNC1	OMIM:616187
HP:0001317	Abnormal cerebellum morphology	8120	AP3B2	OMIM:617276
HP:0001317	Abnormal cerebellum morphology	54834	GDAP2	OMIM:618369
HP:0001317	Abnormal cerebellum morphology	7965	AIMP2	OMIM:618006
HP:0001317	Abnormal cerebellum morphology	51079	NDUFA13	OMIM:618249
HP:0001317	Abnormal cerebellum morphology	400569	MED11	OMIM:620327
HP:0001317	Abnormal cerebellum morphology	26999	CYFIP2	OMIM:618008
HP:0001317	Abnormal cerebellum morphology	773	CACNA1A	ORPHA:569
HP:0001317	Abnormal cerebellum morphology	773	CACNA1A	OMIM:183086
HP:0001317	Abnormal cerebellum morphology	773	CACNA1A	OMIM:141500
HP:0001317	Abnormal cerebellum morphology	112476	PRRT2	ORPHA:569
HP:0001317	Abnormal cerebellum morphology	6323	SCN1A	ORPHA:569
HP:0001317	Abnormal cerebellum morphology	2898	GRIK2	OMIM:619580
HP:0001317	Abnormal cerebellum morphology	5611	DNAJC3	OMIM:616192
HP:0001317	Abnormal cerebellum morphology	5611	DNAJC3	ORPHA:445062
HP:0001317	Abnormal cerebellum morphology	463	ZFHX3	OMIM:600223
HP:0001317	Abnormal cerebellum morphology	2332	FMR1	OMIM:300623
HP:0001317	Abnormal cerebellum morphology	10524	KAT5	OMIM:619103
HP:0001317	Abnormal cerebellum morphology	372	ARCN1	OMIM:617164
HP:0001317	Abnormal cerebellum morphology	2705	GJB1	OMIM:302800
HP:0001317	Abnormal cerebellum morphology	523	ATP6V1A	OMIM:618012
HP:0001317	Abnormal cerebellum morphology	2257	FGF12	OMIM:617166
HP:0001317	Abnormal cerebellum morphology	2071	ERCC3	OMIM:610651
HP:0001317	Abnormal cerebellum morphology	1200	TPP1	OMIM:609270
HP:0001317	Abnormal cerebellum morphology	1200	TPP1	ORPHA:284324
HP:0001317	Abnormal cerebellum morphology	2218	FKTN	ORPHA:370980
HP:0001317	Abnormal cerebellum morphology	729920	CRPPA	ORPHA:370980
HP:0001317	Abnormal cerebellum morphology	220296	HEPACAM	OMIM:613925
HP:0001317	Abnormal cerebellum morphology	9256	TSPOAP1	OMIM:620453
HP:0001317	Abnormal cerebellum morphology	79736	TEFM	OMIM:620451
HP:0001317	Abnormal cerebellum morphology	1938	EEF2	ORPHA:101112
HP:0001317	Abnormal cerebellum morphology	1938	EEF2	OMIM:609306
HP:0001317	Abnormal cerebellum morphology	65260	COA7	OMIM:618387
HP:0001317	Abnormal cerebellum morphology	23316	CUX2	OMIM:618141
HP:0001317	Abnormal cerebellum morphology	64849	SLC13A3	OMIM:618384
HP:0001317	Abnormal cerebellum morphology	94005	PIGS	OMIM:618143
HP:0001317	Abnormal cerebellum morphology	4361	MRE11	ORPHA:251347
HP:0001317	Abnormal cerebellum morphology	4361	MRE11	OMIM:604391
HP:0001317	Abnormal cerebellum morphology	51091	SEPSECS	OMIM:613811
HP:0001317	Abnormal cerebellum morphology	1528	CYB5A	ORPHA:621
HP:0001317	Abnormal cerebellum morphology	1727	CYB5R3	ORPHA:621
HP:0001317	Abnormal cerebellum morphology	215	ABCD1	ORPHA:369942
HP:0001317	Abnormal cerebellum morphology	10134	BCAP31	ORPHA:369942
HP:0001317	Abnormal cerebellum morphology	10134	BCAP31	OMIM:300475
HP:0001317	Abnormal cerebellum morphology	10134	BCAP31	ORPHA:369939
HP:0001317	Abnormal cerebellum morphology	2571	GAD1	OMIM:619124
HP:0001317	Abnormal cerebellum morphology	6872	TAF1	OMIM:300966
HP:0001317	Abnormal cerebellum morphology	90522	YIF1B	OMIM:619125
HP:0001317	Abnormal cerebellum morphology	23287	AGTPBP1	OMIM:618276
HP:0001317	Abnormal cerebellum morphology	79152	FA2H	ORPHA:171629
HP:0001317	Abnormal cerebellum morphology	79152	FA2H	ORPHA:329308
HP:0001317	Abnormal cerebellum morphology	79152	FA2H	OMIM:612319
HP:0001317	Abnormal cerebellum morphology	57038	RARS2	OMIM:611523
HP:0001317	Abnormal cerebellum morphology	57704	GBA2	ORPHA:320391
HP:0001317	Abnormal cerebellum morphology	57704	GBA2	OMIM:614409
HP:0001317	Abnormal cerebellum morphology	2799	GNS	OMIM:252940
HP:0001317	Abnormal cerebellum morphology	9895	TECPR2	ORPHA:320385
HP:0001317	Abnormal cerebellum morphology	6389	SDHA	OMIM:619259
HP:0001317	Abnormal cerebellum morphology	10479	SLC9A6	ORPHA:85278
HP:0001317	Abnormal cerebellum morphology	10479	SLC9A6	OMIM:300243
HP:0001317	Abnormal cerebellum morphology	10273	STUB1	ORPHA:412057
HP:0001317	Abnormal cerebellum morphology	10273	STUB1	OMIM:618093
HP:0001317	Abnormal cerebellum morphology	10273	STUB1	OMIM:615768
HP:0001317	Abnormal cerebellum morphology	383	ARG1	OMIM:207800
HP:0001317	Abnormal cerebellum morphology	3295	HSD17B4	OMIM:261515
HP:0001317	Abnormal cerebellum morphology	3295	HSD17B4	OMIM:233400
HP:0001317	Abnormal cerebellum morphology	54936	ADPRS	OMIM:618170
HP:0001317	Abnormal cerebellum morphology	64802	NMNAT1	OMIM:619260
HP:0001317	Abnormal cerebellum morphology	27072	VPS41	OMIM:619389
HP:0001317	Abnormal cerebellum morphology	84274	COQ5	OMIM:619028
HP:0001317	Abnormal cerebellum morphology	10535	RNASEH2A	OMIM:610333
HP:0001317	Abnormal cerebellum morphology	11342	RNF13	ORPHA:544503
HP:0001317	Abnormal cerebellum morphology	27445	PCLO	OMIM:608027
HP:0001317	Abnormal cerebellum morphology	8398	PLA2G6	OMIM:610217
HP:0001317	Abnormal cerebellum morphology	8398	PLA2G6	ORPHA:35069
HP:0001317	Abnormal cerebellum morphology	8398	PLA2G6	OMIM:256600
HP:0001317	Abnormal cerebellum morphology	64858	DCLRE1B	OMIM:620133
HP:0001317	Abnormal cerebellum morphology	55129	ANO10	OMIM:613728
HP:0001317	Abnormal cerebellum morphology	55129	ANO10	ORPHA:284289
HP:0001317	Abnormal cerebellum morphology	60481	ELOVL5	ORPHA:423296
HP:0001317	Abnormal cerebellum morphology	25792	CIZ1	ORPHA:420492
HP:0001317	Abnormal cerebellum morphology	64374	SIL1	OMIM:248800
HP:0001317	Abnormal cerebellum morphology	4702	NDUFA8	OMIM:619272
HP:0001317	Abnormal cerebellum morphology	158	ADSL	OMIM:103050
HP:0001317	Abnormal cerebellum morphology	51102	MECR	ORPHA:508093
HP:0001317	Abnormal cerebellum morphology	5393	EXOSC9	OMIM:618065
HP:0001317	Abnormal cerebellum morphology	7355	SLC35A2	ORPHA:356961
HP:0001317	Abnormal cerebellum morphology	347734	SLC35B2	OMIM:620269
HP:0001317	Abnormal cerebellum morphology	2896	GRN	OMIM:614706
HP:0001317	Abnormal cerebellum morphology	10667	FARS2	OMIM:614946
HP:0001317	Abnormal cerebellum morphology	23126	POGZ	ORPHA:468678
HP:0001317	Abnormal cerebellum morphology	200205	IBA57	ORPHA:468661
HP:0001317	Abnormal cerebellum morphology	9442	MED27	OMIM:619286
HP:0001317	Abnormal cerebellum morphology	6311	ATXN2	OMIM:183090
HP:0001317	Abnormal cerebellum morphology	25914	RTTN	OMIM:614833
HP:0001317	Abnormal cerebellum morphology	25914	RTTN	ORPHA:468631
HP:0001317	Abnormal cerebellum morphology	54476	RNF216	OMIM:212840
HP:0001317	Abnormal cerebellum morphology	23431	AP4E1	OMIM:613744
HP:0001317	Abnormal cerebellum morphology	23431	AP4E1	ORPHA:280763
HP:0001317	Abnormal cerebellum morphology	547	KIF1A	OMIM:610357
HP:0001317	Abnormal cerebellum morphology	547	KIF1A	OMIM:614255
HP:0001317	Abnormal cerebellum morphology	4884	NPTX1	OMIM:620158
HP:0001317	Abnormal cerebellum morphology	9382	COG1	OMIM:611209
HP:0001317	Abnormal cerebellum morphology	4509	MT-ATP8	ORPHA:254913
HP:0001317	Abnormal cerebellum morphology	514	ATP5F1E	ORPHA:254913
HP:0001317	Abnormal cerebellum morphology	513	ATP5F1D	ORPHA:254913
HP:0001317	Abnormal cerebellum morphology	498	ATP5F1A	ORPHA:254913
HP:0001317	Abnormal cerebellum morphology	84833	ATP5MK	ORPHA:254913
HP:0001317	Abnormal cerebellum morphology	91647	ATPAF2	ORPHA:254913
HP:0001317	Abnormal cerebellum morphology	64207	IRF2BPL	OMIM:618088
HP:0001317	Abnormal cerebellum morphology	5173	PDYN	OMIM:610245
HP:0001317	Abnormal cerebellum morphology	93627	TBCK	OMIM:616900
HP:0001317	Abnormal cerebellum morphology	1509	CTSD	OMIM:610127
HP:0001317	Abnormal cerebellum morphology	823	CAPN1	OMIM:616907
HP:0001317	Abnormal cerebellum morphology	1717	DHCR7	OMIM:270400
HP:0001317	Abnormal cerebellum morphology	7274	TTPA	ORPHA:96
HP:0001317	Abnormal cerebellum morphology	7274	TTPA	OMIM:277460
HP:0001317	Abnormal cerebellum morphology	80856	LNPK	OMIM:618090
HP:0001317	Abnormal cerebellum morphology	1327	COX4I1	OMIM:619060
HP:0001317	Abnormal cerebellum morphology	23203	PMPCA	ORPHA:1170
HP:0001317	Abnormal cerebellum morphology	7156	TOP3A	OMIM:618098
HP:0001317	Abnormal cerebellum morphology	26090	ABHD12	OMIM:612674
HP:0001317	Abnormal cerebellum morphology	55775	TDP1	OMIM:607250
HP:0001317	Abnormal cerebellum morphology	84342	COG8	ORPHA:95428
HP:0001317	Abnormal cerebellum morphology	84342	COG8	OMIM:611182
HP:0001317	Abnormal cerebellum morphology	1600	DAB1	OMIM:615945
HP:0001317	Abnormal cerebellum morphology	4598	MVK	OMIM:610377
HP:0001317	Abnormal cerebellum morphology	10382	TUBB4A	OMIM:612438
HP:0001317	Abnormal cerebellum morphology	84947	SERAC1	OMIM:614739
HP:0001317	Abnormal cerebellum morphology	2395	FXN	ORPHA:95
HP:0001317	Abnormal cerebellum morphology	9711	RUBCN	OMIM:615705
HP:0001317	Abnormal cerebellum morphology	6908	TBP	OMIM:607136
HP:0001317	Abnormal cerebellum morphology	6908	TBP	ORPHA:98759
HP:0001317	Abnormal cerebellum morphology	7915	ALDH5A1	OMIM:271980
HP:0001317	Abnormal cerebellum morphology	2259	FGF14	OMIM:620174
HP:0001317	Abnormal cerebellum morphology	2259	FGF14	ORPHA:98764
HP:0001317	Abnormal cerebellum morphology	2259	FGF14	OMIM:193003
HP:0001317	Abnormal cerebellum morphology	3475	IFRD1	ORPHA:98771
HP:0001317	Abnormal cerebellum morphology	3752	KCND3	ORPHA:98772
HP:0001317	Abnormal cerebellum morphology	3752	KCND3	OMIM:607346
HP:0001317	Abnormal cerebellum morphology	1267	CNP	OMIM:619071
HP:0001317	Abnormal cerebellum morphology	5828	PEX2	OMIM:614866
HP:0001317	Abnormal cerebellum morphology	5828	PEX2	OMIM:614867
HP:0001317	Abnormal cerebellum morphology	90624	LYRM7	OMIM:615838
HP:0001317	Abnormal cerebellum morphology	1282	COL4A1	OMIM:175780
HP:0001317	Abnormal cerebellum morphology	3748	KCNC3	ORPHA:98768
HP:0001317	Abnormal cerebellum morphology	3748	KCNC3	OMIM:605259
HP:0001317	Abnormal cerebellum morphology	83475	DOHH	OMIM:620066
HP:0001317	Abnormal cerebellum morphology	724066	ATXN8	ORPHA:98760
HP:0001317	Abnormal cerebellum morphology	724066	ATXN8	OMIM:608768
HP:0001317	Abnormal cerebellum morphology	6315	ATXN8OS	ORPHA:98760
HP:0001317	Abnormal cerebellum morphology	6315	ATXN8OS	OMIM:608768
HP:0001317	Abnormal cerebellum morphology	492	ATP2B3	OMIM:302500
HP:0001317	Abnormal cerebellum morphology	255928	SYT14	ORPHA:284271
HP:0001317	Abnormal cerebellum morphology	255928	SYT14	OMIM:614229
HP:0001317	Abnormal cerebellum morphology	5192	PEX10	OMIM:614871
HP:0001317	Abnormal cerebellum morphology	9409	PEX16	OMIM:614877
HP:0001317	Abnormal cerebellum morphology	64135	IFIH1	OMIM:615846
HP:0001317	Abnormal cerebellum morphology	25828	TXN2	OMIM:616811
HP:0001317	Abnormal cerebellum morphology	6310	ATXN1	ORPHA:98755
HP:0001317	Abnormal cerebellum morphology	22880	MORC2	OMIM:619090
HP:0001317	Abnormal cerebellum morphology	22880	MORC2	ORPHA:466768
HP:0001317	Abnormal cerebellum morphology	55275	VPS53	OMIM:615851
HP:0001317	Abnormal cerebellum morphology	10815	CPLX1	ORPHA:352582
HP:0001317	Abnormal cerebellum morphology	57465	TBC1D24	ORPHA:352582
HP:0001317	Abnormal cerebellum morphology	1384	CRAT	OMIM:617917
HP:0001317	Abnormal cerebellum morphology	64116	SLC39A8	ORPHA:468699
HP:0001317	Abnormal cerebellum morphology	64116	SLC39A8	OMIM:616721
HP:0001317	Abnormal cerebellum morphology	200403	VWA3B	OMIM:616948
HP:0001317	Abnormal cerebellum morphology	85021	REPS1	OMIM:617916
HP:0001317	Abnormal cerebellum morphology	3954	LETM1	OMIM:620089
HP:0001317	Abnormal cerebellum morphology	1487	CTBP1	OMIM:617915
HP:0001317	Abnormal cerebellum morphology	6314	ATXN7	ORPHA:94147
HP:0001317	Abnormal cerebellum morphology	7546	ZIC2	OMIM:609637
HP:0001317	Abnormal cerebellum morphology	57017	COQ9	OMIM:614654
HP:0001317	Abnormal cerebellum morphology	55690	PACS1	ORPHA:329224
HP:0001317	Abnormal cerebellum morphology	22907	DHX30	OMIM:617804
HP:0001317	Abnormal cerebellum morphology	79628	SH3TC2	ORPHA:99949
HP:0001317	Abnormal cerebellum morphology	7407	VARS1	OMIM:617802
HP:0001317	Abnormal cerebellum morphology	10664	CTCF	OMIM:615502
HP:0001317	Abnormal cerebellum morphology	339453	TMEM240	OMIM:607454
HP:0001317	Abnormal cerebellum morphology	23064	SETX	OMIM:606002
HP:0001317	Abnormal cerebellum morphology	1861	TOR1A	OMIM:128100
HP:0001317	Abnormal cerebellum morphology	11128	POLR3A	OMIM:607694
HP:0001317	Abnormal cerebellum morphology	92935	MARS2	OMIM:611390
HP:0001317	Abnormal cerebellum morphology	92935	MARS2	OMIM:616430
HP:0001317	Abnormal cerebellum morphology	80207	OPA3	ORPHA:67036
HP:0001317	Abnormal cerebellum morphology	124997	WDR81	OMIM:610185
HP:0001317	Abnormal cerebellum morphology	6334	SCN8A	OMIM:614306
HP:0001317	Abnormal cerebellum morphology	7545	ZIC1	OMIM:616602
HP:0001317	Abnormal cerebellum morphology	55187	VPS13D	OMIM:607317
HP:0001317	Abnormal cerebellum morphology	998	CDC42	OMIM:616737
HP:0001317	Abnormal cerebellum morphology	998	CDC42	ORPHA:487796
HP:0001317	Abnormal cerebellum morphology	57505	AARS2	OMIM:615889
HP:0001317	Abnormal cerebellum morphology	50	ACO2	OMIM:614559
HP:0001317	Abnormal cerebellum morphology	51010	EXOSC3	OMIM:614678
HP:0001317	Abnormal cerebellum morphology	2891	GRIA2	OMIM:618917
HP:0001317	Abnormal cerebellum morphology	4694	NDUFA1	OMIM:301020
HP:0001317	Abnormal cerebellum morphology	27235	COQ2	OMIM:607426
HP:0001317	Abnormal cerebellum morphology	23732	FRRS1L	OMIM:616981
HP:0001317	Abnormal cerebellum morphology	63035	BCORL1	OMIM:301029
HP:0001317	Abnormal cerebellum morphology	9512	PMPCB	OMIM:617954
HP:0001317	Abnormal cerebellum morphology	51741	WWOX	OMIM:614322
HP:0001317	Abnormal cerebellum morphology	2058	EPRS1	OMIM:617951
HP:0001317	Abnormal cerebellum morphology	80746	TSEN2	OMIM:612389
HP:0001317	Abnormal cerebellum morphology	5582	PRKCG	OMIM:605361
HP:0001317	Abnormal cerebellum morphology	5422	POLA1	OMIM:301030
HP:0001317	Abnormal cerebellum morphology	84188	FAR1	ORPHA:438178
HP:0001317	Abnormal cerebellum morphology	57511	COG6	OMIM:614576
HP:0001317	Abnormal cerebellum morphology	23065	EMC1	OMIM:616875
HP:0001317	Abnormal cerebellum morphology	5981	RFC1	OMIM:614575
HP:0001317	Abnormal cerebellum morphology	55644	OSGEP	OMIM:617729
HP:0001317	Abnormal cerebellum morphology	9997	SCO2	OMIM:604377
HP:0001317	Abnormal cerebellum morphology	8270	LAGE3	OMIM:301006
HP:0001317	Abnormal cerebellum morphology	80781	COL18A1	OMIM:267750
HP:0001317	Abnormal cerebellum morphology	26576	SRPK3	OMIM:301134
HP:0001317	Abnormal cerebellum morphology	122553	TRAPPC6B	OMIM:617862
HP:0001317	Abnormal cerebellum morphology	7222	TRPC3	OMIM:616410
HP:0001317	Abnormal cerebellum morphology	80210	ARMC9	OMIM:617622
HP:0001317	Abnormal cerebellum morphology	2670	GFAP	ORPHA:363717
HP:0001317	Abnormal cerebellum morphology	55704	CCDC88A	OMIM:617507
HP:0001317	Abnormal cerebellum morphology	55164	SHQ1	OMIM:619922
HP:0001317	Abnormal cerebellum morphology	6785	ELOVL4	OMIM:133190
HP:0001317	Abnormal cerebellum morphology	617	BCS1L	OMIM:124000
HP:0001317	Abnormal cerebellum morphology	10717	AP4B1	ORPHA:280763
HP:0001317	Abnormal cerebellum morphology	11154	AP4S1	ORPHA:280763
HP:0001317	Abnormal cerebellum morphology	95	ACY1	OMIM:609924
HP:0001317	Abnormal cerebellum morphology	1736	DKC1	OMIM:301108
HP:0001317	Abnormal cerebellum morphology	9197	SLC33A1	OMIM:614482
HP:0001317	Abnormal cerebellum morphology	1203	CLN5	OMIM:256731
HP:0001317	Abnormal cerebellum morphology	4724	NDUFS4	OMIM:252010
HP:0001317	Abnormal cerebellum morphology	7515	XRCC1	OMIM:617633
HP:0001317	Abnormal cerebellum morphology	23533	PIK3R5	OMIM:615217
HP:0001317	Abnormal cerebellum morphology	3778	KCNMA1	OMIM:618729
HP:0001317	Abnormal cerebellum morphology	3778	KCNMA1	OMIM:617643
HP:0001317	Abnormal cerebellum morphology	87178	PNPT1	OMIM:608703
HP:0001317	Abnormal cerebellum morphology	51075	TMX2	OMIM:618730
HP:0001317	Abnormal cerebellum morphology	8884	SLC5A6	OMIM:618973
HP:0001317	Abnormal cerebellum morphology	23404	EXOSC2	OMIM:617763
HP:0001317	Abnormal cerebellum morphology	79587	CARS2	OMIM:616672
HP:0001317	Abnormal cerebellum morphology	2196	FAT2	OMIM:617769
HP:0001317	Abnormal cerebellum morphology	5297	PI4KA	OMIM:619708
HP:0001317	Abnormal cerebellum morphology	267010	RNU12	ORPHA:512260
HP:0001317	Abnormal cerebellum morphology	10682	EBP	ORPHA:401973
HP:0001317	Abnormal cerebellum morphology	10682	EBP	OMIM:300960
HP:0001317	Abnormal cerebellum morphology	10682	EBP	OMIM:302960
HP:0001317	Abnormal cerebellum morphology	79068	FTO	OMIM:612938
HP:0001317	Abnormal cerebellum morphology	57492	ARID1B	OMIM:135900
HP:0001317	Abnormal cerebellum morphology	57492	ARID1B	ORPHA:1465
HP:0001317	Abnormal cerebellum morphology	3899	AFF3	OMIM:619297
HP:0001317	Abnormal cerebellum morphology	6597	SMARCA4	ORPHA:1465
HP:0001317	Abnormal cerebellum morphology	6597	SMARCA4	OMIM:614609
HP:0001317	Abnormal cerebellum morphology	6601	SMARCC2	ORPHA:1465
HP:0001317	Abnormal cerebellum morphology	6602	SMARCD1	ORPHA:1465
HP:0001317	Abnormal cerebellum morphology	196528	ARID2	ORPHA:1465
HP:0001317	Abnormal cerebellum morphology	6664	SOX11	ORPHA:1465
HP:0001317	Abnormal cerebellum morphology	27315	PGAP2	OMIM:614207
HP:0001317	Abnormal cerebellum morphology	157570	ESCO2	ORPHA:2319
HP:0001317	Abnormal cerebellum morphology	79770	TXNDC15	ORPHA:564
HP:0001317	Abnormal cerebellum morphology	27031	NPHP3	OMIM:267010
HP:0001317	Abnormal cerebellum morphology	27031	NPHP3	OMIM:208540
HP:0001317	Abnormal cerebellum morphology	27031	NPHP3	ORPHA:3032
HP:0001317	Abnormal cerebellum morphology	171023	ASXL1	ORPHA:97297
HP:0001317	Abnormal cerebellum morphology	171023	ASXL1	OMIM:605039
HP:0001317	Abnormal cerebellum morphology	55605	KIF21A	ORPHA:994
HP:0001317	Abnormal cerebellum morphology	4927	NUP88	ORPHA:994
HP:0001317	Abnormal cerebellum morphology	4654	MYOD1	ORPHA:994
HP:0001317	Abnormal cerebellum morphology	54551	MAGEL2	ORPHA:994
HP:0001317	Abnormal cerebellum morphology	5913	RAPSN	ORPHA:994
HP:0001317	Abnormal cerebellum morphology	6572	SLC18A3	ORPHA:994
HP:0001317	Abnormal cerebellum morphology	285489	DOK7	ORPHA:994
HP:0001317	Abnormal cerebellum morphology	4534	MTM1	OMIM:310400
HP:0001317	Abnormal cerebellum morphology	54880	BCOR	OMIM:300166
HP:0001317	Abnormal cerebellum morphology	132884	EVC2	OMIM:225500
HP:0001317	Abnormal cerebellum morphology	2121	EVC	OMIM:225500
HP:0001317	Abnormal cerebellum morphology	3798	KIF5A	OMIM:617235
HP:0001317	Abnormal cerebellum morphology	1028	CDKN1C	OMIM:130650
HP:0001317	Abnormal cerebellum morphology	3481	IGF2	OMIM:130650
HP:0001317	Abnormal cerebellum morphology	3784	KCNQ1	OMIM:130650
HP:0001317	Abnormal cerebellum morphology	10984	KCNQ1OT1	OMIM:130650
HP:0001317	Abnormal cerebellum morphology	5621	PRNP	ORPHA:356
HP:0001317	Abnormal cerebellum morphology	5621	PRNP	OMIM:123400
HP:0001317	Abnormal cerebellum morphology	23111	SPART	OMIM:275900
HP:0001317	Abnormal cerebellum morphology	23111	SPART	ORPHA:101000
HP:0001317	Abnormal cerebellum morphology	1798	DPAGT1	ORPHA:86309
HP:0001317	Abnormal cerebellum morphology	57187	THOC2	OMIM:300957
HP:0001317	Abnormal cerebellum morphology	9420	CYP7B1	ORPHA:100986
HP:0001317	Abnormal cerebellum morphology	9420	CYP7B1	OMIM:270800
HP:0001317	Abnormal cerebellum morphology	8905	AP1S2	ORPHA:85335
HP:0001317	Abnormal cerebellum morphology	5626	PROP1	ORPHA:226307
HP:0001317	Abnormal cerebellum morphology	89884	LHX4	ORPHA:226307
HP:0001317	Abnormal cerebellum morphology	8022	LHX3	ORPHA:226307
HP:0001317	Abnormal cerebellum morphology	5449	POU1F1	ORPHA:226307
HP:0001317	Abnormal cerebellum morphology	8820	HESX1	ORPHA:226307
HP:0001317	Abnormal cerebellum morphology	1593	CYP27A1	ORPHA:909
HP:0001317	Abnormal cerebellum morphology	4508	MT-ATP6	ORPHA:320360
HP:0001317	Abnormal cerebellum morphology	8314	BAP1	ORPHA:2495
HP:0001317	Abnormal cerebellum morphology	4771	NF2	ORPHA:2495
HP:0001317	Abnormal cerebellum morphology	4771	NF2	ORPHA:637
HP:0001317	Abnormal cerebellum morphology	6598	SMARCB1	ORPHA:2495
HP:0001317	Abnormal cerebellum morphology	5155	PDGFB	ORPHA:2495
HP:0001317	Abnormal cerebellum morphology	84231	TRAF7	ORPHA:2495
HP:0001317	Abnormal cerebellum morphology	6608	SMO	ORPHA:2495
HP:0001317	Abnormal cerebellum morphology	207	AKT1	ORPHA:2495
HP:0001317	Abnormal cerebellum morphology	207	AKT1	ORPHA:201
HP:0001317	Abnormal cerebellum morphology	5290	PIK3CA	ORPHA:2495
HP:0001317	Abnormal cerebellum morphology	5290	PIK3CA	ORPHA:201
HP:0001317	Abnormal cerebellum morphology	7015	TERT	ORPHA:2495
HP:0001317	Abnormal cerebellum morphology	51684	SUFU	ORPHA:2495
HP:0001317	Abnormal cerebellum morphology	51684	SUFU	OMIM:617757
HP:0001317	Abnormal cerebellum morphology	6605	SMARCE1	ORPHA:2495
HP:0001317	Abnormal cerebellum morphology	55746	NUP133	OMIM:618349
HP:0001317	Abnormal cerebellum morphology	4001	LMNB1	OMIM:169500
HP:0001317	Abnormal cerebellum morphology	8050	PDHX	ORPHA:255182
HP:0001317	Abnormal cerebellum morphology	9289	ADGRG1	ORPHA:101070
HP:0001317	Abnormal cerebellum morphology	5728	PTEN	ORPHA:101070
HP:0001317	Abnormal cerebellum morphology	5728	PTEN	ORPHA:201
HP:0001317	Abnormal cerebellum morphology	10613	ERLIN1	ORPHA:401785
HP:0001317	Abnormal cerebellum morphology	10613	ERLIN1	OMIM:615681
HP:0001317	Abnormal cerebellum morphology	23503	ZFYVE26	OMIM:270700
HP:0001317	Abnormal cerebellum morphology	23503	ZFYVE26	ORPHA:100996
HP:0001317	Abnormal cerebellum morphology	79848	CSPP1	ORPHA:397715
HP:0001317	Abnormal cerebellum morphology	9786	KIAA0586	ORPHA:397715
HP:0001317	Abnormal cerebellum morphology	5521	PPP2R2B	ORPHA:98762
HP:0001317	Abnormal cerebellum morphology	29925	GMPPB	ORPHA:370959
HP:0001317	Abnormal cerebellum morphology	79147	FKRP	ORPHA:370959
HP:0001317	Abnormal cerebellum morphology	29954	POMT2	ORPHA:370959
HP:0001317	Abnormal cerebellum morphology	84197	POMK	ORPHA:370959
HP:0001317	Abnormal cerebellum morphology	55624	POMGNT1	ORPHA:370959
HP:0001317	Abnormal cerebellum morphology	10585	POMT1	ORPHA:370959
HP:0001317	Abnormal cerebellum morphology	5354	PLP1	ORPHA:280234
HP:0001317	Abnormal cerebellum morphology	5354	PLP1	OMIM:312920
HP:0001317	Abnormal cerebellum morphology	2521	FUS	ORPHA:300605
HP:0001317	Abnormal cerebellum morphology	80208	SPG11	ORPHA:300605
HP:0001317	Abnormal cerebellum morphology	10280	SIGMAR1	ORPHA:300605
HP:0001317	Abnormal cerebellum morphology	10558	SPTLC1	ORPHA:300605
HP:0001317	Abnormal cerebellum morphology	57679	ALS2	ORPHA:300605
HP:0001317	Abnormal cerebellum morphology	9101	USP8	ORPHA:401795
HP:0001317	Abnormal cerebellum morphology	6609	SMPD1	ORPHA:77293
HP:0001317	Abnormal cerebellum morphology	84340	GFM2	ORPHA:565624
HP:0001317	Abnormal cerebellum morphology	8913	CACNA1G	ORPHA:458803
HP:0001317	Abnormal cerebellum morphology	80224	NUBPL	OMIM:618242
HP:0001317	Abnormal cerebellum morphology	84668	HYCC1	ORPHA:85163
HP:0001317	Abnormal cerebellum morphology	84668	HYCC1	OMIM:610532
HP:0001317	Abnormal cerebellum morphology	9968	MED12	ORPHA:93932
HP:0001317	Abnormal cerebellum morphology	55157	DARS2	ORPHA:137898
HP:0001317	Abnormal cerebellum morphology	22930	RAB3GAP1	ORPHA:2510
HP:0001317	Abnormal cerebellum morphology	25782	RAB3GAP2	ORPHA:2510
HP:0001317	Abnormal cerebellum morphology	22931	RAB18	ORPHA:2510
HP:0001317	Abnormal cerebellum morphology	128637	TBC1D20	ORPHA:2510
HP:0001317	Abnormal cerebellum morphology	8139	GAN	ORPHA:643
HP:0001317	Abnormal cerebellum morphology	8139	GAN	OMIM:256850
HP:0001317	Abnormal cerebellum morphology	3119	HLA-DQB1	OMIM:123400
HP:0001317	Abnormal cerebellum morphology	5832	ALDH18A1	ORPHA:447753
HP:0001317	Abnormal cerebellum morphology	79644	SRD5A3	ORPHA:324737
HP:0001317	Abnormal cerebellum morphology	10483	SEC23B	ORPHA:201
HP:0001317	Abnormal cerebellum morphology	6390	SDHB	ORPHA:201
HP:0001317	Abnormal cerebellum morphology	6392	SDHD	ORPHA:201
HP:0001317	Abnormal cerebellum morphology	6391	SDHC	ORPHA:201
HP:0001317	Abnormal cerebellum morphology	205717	USF3	ORPHA:201
HP:0001317	Abnormal cerebellum morphology	100144748	KLLN	ORPHA:201
HP:0001317	Abnormal cerebellum morphology	2583	B4GALNT1	ORPHA:101006
HP:0001317	Abnormal cerebellum morphology	26278	SACS	ORPHA:98
HP:0001317	Abnormal cerebellum morphology	51324	SPG21	ORPHA:101001
HP:0001317	Abnormal cerebellum morphology	80331	DNAJC5	OMIM:162350
HP:0001317	Abnormal cerebellum morphology	22884	WDR37	OMIM:618652
HP:0001317	Abnormal cerebellum morphology	63925	ZNF335	ORPHA:329228
HP:0001317	Abnormal cerebellum morphology	221927	BRAT1	OMIM:618056
HP:0001317	Abnormal cerebellum morphology	1201	CLN3	OMIM:204200
HP:0001317	Abnormal cerebellum morphology	81790	RNF170	OMIM:608984
HP:0001317	Abnormal cerebellum morphology	113278	SLC52A3	OMIM:211530
HP:0001317	Abnormal cerebellum morphology	10128	LRPPRC	OMIM:220111
HP:0001317	Abnormal cerebellum morphology	54892	NCAPG2	OMIM:618460
HP:0001317	Abnormal cerebellum morphology	60529	ALX4	OMIM:613451
HP:0001317	Abnormal cerebellum morphology	4750	NEK1	OMIM:263520
HP:0001317	Abnormal cerebellum morphology	23241	PACS2	OMIM:618067
HP:0001317	Abnormal cerebellum morphology	100151683	RNU4ATAC	OMIM:210710
HP:0001317	Abnormal cerebellum morphology	26160	IFT172	OMIM:615630
HP:0001317	Abnormal cerebellum morphology	6091	ROBO1	OMIM:620305
HP:0001317	Abnormal cerebellum morphology	2355	FOSL2	OMIM:620789
HP:0001317	Abnormal cerebellum morphology	65062	TMEM237	OMIM:614424
HP:0001317	Abnormal cerebellum morphology	65062	TMEM237	ORPHA:220497
HP:0001317	Abnormal cerebellum morphology	65062	TMEM237	ORPHA:2318
HP:0001317	Abnormal cerebellum morphology	65062	TMEM237	ORPHA:475
HP:0001317	Abnormal cerebellum morphology	55733	HHAT	OMIM:600092
HP:0001317	Abnormal cerebellum morphology	8496	PPFIBP1	OMIM:620024
HP:0001317	Abnormal cerebellum morphology	4867	NPHP1	OMIM:609583
HP:0001317	Abnormal cerebellum morphology	4867	NPHP1	ORPHA:220497
HP:0001317	Abnormal cerebellum morphology	64324	NSD1	ORPHA:821
HP:0001317	Abnormal cerebellum morphology	9578	CDC42BPB	OMIM:619841
HP:0001317	Abnormal cerebellum morphology	3020	H3-3A	OMIM:619720
HP:0001317	Abnormal cerebellum morphology	219854	TMEM218	OMIM:619562
HP:0001317	Abnormal cerebellum morphology	219854	TMEM218	ORPHA:475
HP:0001317	Abnormal cerebellum morphology	473	RERE	OMIM:616975
HP:0001317	Abnormal cerebellum morphology	473	RERE	ORPHA:494344
HP:0001317	Abnormal cerebellum morphology	7280	TUBB2A	OMIM:615763
HP:0001317	Abnormal cerebellum morphology	54806	AHI1	ORPHA:220493
HP:0001317	Abnormal cerebellum morphology	54806	AHI1	OMIM:608629
HP:0001317	Abnormal cerebellum morphology	54806	AHI1	ORPHA:475
HP:0001317	Abnormal cerebellum morphology	95681	CEP41	ORPHA:220493
HP:0001317	Abnormal cerebellum morphology	95681	CEP41	ORPHA:475
HP:0001317	Abnormal cerebellum morphology	57082	KNL1	OMIM:604321
HP:0001317	Abnormal cerebellum morphology	7846	TUBA1A	OMIM:611603
HP:0001317	Abnormal cerebellum morphology	7846	TUBA1A	ORPHA:467166
HP:0001317	Abnormal cerebellum morphology	7846	TUBA1A	ORPHA:171680
HP:0001317	Abnormal cerebellum morphology	55777	MBD5	OMIM:156200
HP:0001317	Abnormal cerebellum morphology	1778	DYNC1H1	OMIM:614563
HP:0001317	Abnormal cerebellum morphology	23090	ZNF423	OMIM:614844
HP:0001317	Abnormal cerebellum morphology	23090	ZNF423	ORPHA:2318
HP:0001317	Abnormal cerebellum morphology	1801	DPH1	OMIM:616901
HP:0001317	Abnormal cerebellum morphology	1801	DPH1	ORPHA:459061
HP:0001317	Abnormal cerebellum morphology	22897	CEP164	OMIM:614845
HP:0001317	Abnormal cerebellum morphology	54974	THG1L	OMIM:618800
HP:0001317	Abnormal cerebellum morphology	79583	TMEM231	ORPHA:2318
HP:0001317	Abnormal cerebellum morphology	79583	TMEM231	ORPHA:2754
HP:0001317	Abnormal cerebellum morphology	51524	TMEM138	ORPHA:2318
HP:0001317	Abnormal cerebellum morphology	23116	TOGARAM1	OMIM:619185
HP:0001317	Abnormal cerebellum morphology	23116	TOGARAM1	ORPHA:475
HP:0001317	Abnormal cerebellum morphology	7703	PCGF2	OMIM:618371
HP:0001317	Abnormal cerebellum morphology	23258	DENND5A	OMIM:617281
HP:0001317	Abnormal cerebellum morphology	79600	TCTN1	OMIM:614173
HP:0001317	Abnormal cerebellum morphology	79600	TCTN1	ORPHA:475
HP:0001317	Abnormal cerebellum morphology	127833	SYT2	OMIM:619461
HP:0001317	Abnormal cerebellum morphology	8550	MAPKAPK5	OMIM:619869
HP:0001317	Abnormal cerebellum morphology	545	ATR	OMIM:210600
HP:0001317	Abnormal cerebellum morphology	1974	EIF4A2	OMIM:620455
HP:0001317	Abnormal cerebellum morphology	64864	RFX7	OMIM:620330
HP:0001317	Abnormal cerebellum morphology	2296	FOXC1	OMIM:602482
HP:0001317	Abnormal cerebellum morphology	2296	FOXC1	OMIM:601631
HP:0001317	Abnormal cerebellum morphology	5147	PDE6D	ORPHA:475
HP:0001317	Abnormal cerebellum morphology	5147	PDE6D	ORPHA:2754
HP:0001317	Abnormal cerebellum morphology	65250	CPLANE1	ORPHA:475
HP:0001317	Abnormal cerebellum morphology	65250	CPLANE1	OMIM:277170
HP:0001317	Abnormal cerebellum morphology	65250	CPLANE1	ORPHA:2754
HP:0001317	Abnormal cerebellum morphology	200894	ARL13B	ORPHA:475
HP:0001317	Abnormal cerebellum morphology	219844	HYLS1	ORPHA:475
HP:0001317	Abnormal cerebellum morphology	23247	KATNIP	ORPHA:475
HP:0001317	Abnormal cerebellum morphology	23247	KATNIP	OMIM:616784
HP:0001317	Abnormal cerebellum morphology	26123	TCTN3	ORPHA:475
HP:0001317	Abnormal cerebellum morphology	26123	TCTN3	ORPHA:2754
HP:0001317	Abnormal cerebellum morphology	10464	PIBF1	ORPHA:475
HP:0001317	Abnormal cerebellum morphology	25776	CBY1	ORPHA:475
HP:0001317	Abnormal cerebellum morphology	27077	B9D1	ORPHA:475
HP:0001317	Abnormal cerebellum morphology	403	ARL3	ORPHA:475
HP:0001317	Abnormal cerebellum morphology	403	ARL3	OMIM:618161
HP:0001317	Abnormal cerebellum morphology	80173	IFT74	ORPHA:475
HP:0001317	Abnormal cerebellum morphology	10804	GJB6	ORPHA:477
HP:0001317	Abnormal cerebellum morphology	2706	GJB2	ORPHA:477
HP:0001317	Abnormal cerebellum morphology	2615	LRRC32	OMIM:619074
HP:0001317	Abnormal cerebellum morphology	4352	MPL	OMIM:604498
HP:0001317	Abnormal cerebellum morphology	2892	GRIA3	ORPHA:364028
HP:0001317	Abnormal cerebellum morphology	56006	SMG9	OMIM:616920
HP:0001317	Abnormal cerebellum morphology	163786	SASS6	OMIM:616402
HP:0001317	Abnormal cerebellum morphology	51692	CPSF3	OMIM:619876
HP:0001317	Abnormal cerebellum morphology	10236	HNRNPR	OMIM:620073
HP:0001317	Abnormal cerebellum morphology	51611	DPH5	OMIM:620070
HP:0001317	Abnormal cerebellum morphology	90416	CCDC32	OMIM:619123
HP:0001317	Abnormal cerebellum morphology	5591	PRKDC	OMIM:615966
HP:0001317	Abnormal cerebellum morphology	54499	TMCO1	ORPHA:1394
HP:0001317	Abnormal cerebellum morphology	79971	WLS	OMIM:619648
HP:0001317	Abnormal cerebellum morphology	79633	FAT4	ORPHA:314679
HP:0001317	Abnormal cerebellum morphology	8642	DCHS1	ORPHA:314679
HP:0001317	Abnormal cerebellum morphology	3187	HNRNPH1	OMIM:620083
HP:0001317	Abnormal cerebellum morphology	4123	MAN2C1	OMIM:619775
HP:0001317	Abnormal cerebellum morphology	738	VPS51	OMIM:618606
HP:0001317	Abnormal cerebellum morphology	2806	GOT2	OMIM:618721
HP:0001317	Abnormal cerebellum morphology	79645	CLXN	OMIM:620642
HP:0001317	Abnormal cerebellum morphology	84081	NSRP1	OMIM:620001
HP:0001317	Abnormal cerebellum morphology	10079	ATP9A	OMIM:620242
HP:0001317	Abnormal cerebellum morphology	1376	CPT2	ORPHA:228308
HP:0001317	Abnormal cerebellum morphology	10210	TOPORS	ORPHA:2754
HP:0001317	Abnormal cerebellum morphology	317662	FAM149B1	ORPHA:2754
HP:0001317	Abnormal cerebellum morphology	129285	PPP1R21	OMIM:619383
HP:0001317	Abnormal cerebellum morphology	79023	NUP37	OMIM:618179
HP:0001317	Abnormal cerebellum morphology	8295	TRRAP	OMIM:618454
HP:0001317	Abnormal cerebellum morphology	9181	ARHGEF2	OMIM:617523
HP:0001317	Abnormal cerebellum morphology	221078	NSUN6	OMIM:620779
HP:0001317	Abnormal cerebellum morphology	2719	GPC3	OMIM:312870
HP:0001317	Abnormal cerebellum morphology	2239	GPC4	OMIM:312870
HP:0001317	Abnormal cerebellum morphology	5908	RAP1B	OMIM:620654
HP:0001317	Abnormal cerebellum morphology	9230	RAB11B	OMIM:617807
HP:0001317	Abnormal cerebellum morphology	1802	DPH2	ORPHA:459061
HP:0001317	Abnormal cerebellum morphology	80816	ASXL3	ORPHA:352577
HP:0001317	Abnormal cerebellum morphology	11113	CIT	OMIM:617090
HP:0001317	Abnormal cerebellum morphology	11253	MAN1B1	ORPHA:397941
HP:0001317	Abnormal cerebellum morphology	11253	MAN1B1	OMIM:614202
HP:0001317	Abnormal cerebellum morphology	83700	JAM3	OMIM:613730
HP:0001317	Abnormal cerebellum morphology	2972	BRF1	OMIM:616202
HP:0001317	Abnormal cerebellum morphology	2972	BRF1	ORPHA:444072
HP:0001317	Abnormal cerebellum morphology	55627	SMPD4	OMIM:618622
HP:0001317	Abnormal cerebellum morphology	55325	UFSP2	OMIM:620028
HP:0001317	Abnormal cerebellum morphology	5457	POU4F1	ORPHA:314647
HP:0001317	Abnormal cerebellum morphology	23261	CAMTA1	ORPHA:314647
HP:0001317	Abnormal cerebellum morphology	23261	CAMTA1	OMIM:614756
HP:0001317	Abnormal cerebellum morphology	57176	VARS2	OMIM:615917
HP:0001317	Abnormal cerebellum morphology	9690	UBE3C	OMIM:620270
HP:0001317	Abnormal cerebellum morphology	55112	DYNC2I1	ORPHA:93271
HP:0001317	Abnormal cerebellum morphology	57560	IFT80	ORPHA:93271
HP:0001317	Abnormal cerebellum morphology	57539	WDR35	ORPHA:93271
HP:0001317	Abnormal cerebellum morphology	89891	DYNC2I2	ORPHA:93271
HP:0001317	Abnormal cerebellum morphology	80232	WDR26	ORPHA:513456
HP:0001317	Abnormal cerebellum morphology	51506	UFC1	OMIM:618076
HP:0001317	Abnormal cerebellum morphology	10730	YME1L1	OMIM:617302
HP:0001317	Abnormal cerebellum morphology	51112	TRAPPC12	OMIM:617669
HP:0001317	Abnormal cerebellum morphology	55780	ERMARD	ORPHA:75857
HP:0001317	Abnormal cerebellum morphology	271	AMPD2	OMIM:615809
HP:0001317	Abnormal cerebellum morphology	3735	KARS1	ORPHA:3240
HP:0001317	Abnormal cerebellum morphology	26277	TINF2	OMIM:613990
HP:0001317	Abnormal cerebellum morphology	26277	TINF2	ORPHA:3322
HP:0001317	Abnormal cerebellum morphology	26277	TINF2	OMIM:268130
HP:0001317	Abnormal cerebellum morphology	26277	TINF2	OMIM:127550
HP:0001317	Abnormal cerebellum morphology	1020	CDK5	OMIM:616342
HP:0001317	Abnormal cerebellum morphology	83871	RAB34	OMIM:620718
HP:0001317	Abnormal cerebellum morphology	5119	CHMP1A	OMIM:614961
HP:0001317	Abnormal cerebellum morphology	6773	STAT2	OMIM:618886
HP:0001317	Abnormal cerebellum morphology	114034	TOE1	OMIM:614969
HP:0001317	Abnormal cerebellum morphology	8289	ARID1A	OMIM:614607
HP:0001317	Abnormal cerebellum morphology	157680	VPS13B	OMIM:216550
HP:0001317	Abnormal cerebellum morphology	9896	FIG4	ORPHA:3472
HP:0001317	Abnormal cerebellum morphology	9896	FIG4	OMIM:216340
HP:0001317	Abnormal cerebellum morphology	55697	VAC14	ORPHA:3472
HP:0001317	Abnormal cerebellum morphology	652	BMP4	OMIM:607932
HP:0001317	Abnormal cerebellum morphology	57498	KIDINS220	OMIM:619501
HP:0001317	Abnormal cerebellum morphology	5073	PARN	OMIM:616353
HP:0001317	Abnormal cerebellum morphology	5073	PARN	ORPHA:3322
HP:0001317	Abnormal cerebellum morphology	23036	ZNF292	OMIM:619188
HP:0001317	Abnormal cerebellum morphology	84314	TMEM107	OMIM:617562
HP:0001317	Abnormal cerebellum morphology	80776	B9D2	OMIM:614175
HP:0001317	Abnormal cerebellum morphology	26005	C2CD3	OMIM:615948
HP:0001317	Abnormal cerebellum morphology	55154	MSTO1	ORPHA:502423
HP:0001317	Abnormal cerebellum morphology	4247	MGAT2	OMIM:212066
HP:0001317	Abnormal cerebellum morphology	4247	MGAT2	ORPHA:79329
HP:0001317	Abnormal cerebellum morphology	26227	PHGDH	OMIM:256520
HP:0001317	Abnormal cerebellum morphology	8241	RBM10	OMIM:311900
HP:0001317	Abnormal cerebellum morphology	8241	RBM10	ORPHA:2886
HP:0001317	Abnormal cerebellum morphology	23265	EXOC7	OMIM:619072
HP:0001317	Abnormal cerebellum morphology	4593	MUSK	OMIM:208150
HP:0001317	Abnormal cerebellum morphology	84879	MFSD2A	OMIM:616486
HP:0001317	Abnormal cerebellum morphology	55773	TBC1D23	OMIM:617695
HP:0001317	Abnormal cerebellum morphology	10013	HDAC6	ORPHA:163966
HP:0001317	Abnormal cerebellum morphology	3912	LAMB1	ORPHA:352682
HP:0001317	Abnormal cerebellum morphology	6134	RPL10	ORPHA:459070
HP:0001317	Abnormal cerebellum morphology	6134	RPL10	OMIM:300998
HP:0001317	Abnormal cerebellum morphology	55165	CEP55	OMIM:236500
HP:0001317	Abnormal cerebellum morphology	5605	MAP2K2	OMIM:615280
HP:0001317	Abnormal cerebellum morphology	79813	EHMT1	ORPHA:261652
HP:0001317	Abnormal cerebellum morphology	58508	KMT2C	ORPHA:261652
HP:0001317	Abnormal cerebellum morphology	8818	DPM2	OMIM:615042
HP:0001317	Abnormal cerebellum morphology	8818	DPM2	ORPHA:329178
HP:0001317	Abnormal cerebellum morphology	9474	ATG5	OMIM:617584
HP:0001317	Abnormal cerebellum morphology	59336	PRDM13	OMIM:619761
HP:0001317	Abnormal cerebellum morphology	9928	KIF14	OMIM:616258
HP:0001317	Abnormal cerebellum morphology	9928	KIF14	OMIM:617914
HP:0001317	Abnormal cerebellum morphology	10297	APC2	OMIM:618677
HP:0001317	Abnormal cerebellum morphology	5340	PLG	OMIM:217090
HP:0001317	Abnormal cerebellum morphology	9562	MINPP1	OMIM:619527
HP:0001317	Abnormal cerebellum morphology	2683	B4GALT1	ORPHA:79332
HP:0001317	Abnormal cerebellum morphology	51085	MLXIPL	OMIM:194050
HP:0001317	Abnormal cerebellum morphology	55691	FRMD4A	OMIM:616819
HP:0001317	Abnormal cerebellum morphology	51322	WAC	ORPHA:284169
HP:0001317	Abnormal cerebellum morphology	55120	FANCL	OMIM:614083
HP:0001317	Abnormal cerebellum morphology	10735	STAG2	ORPHA:521258
HP:0001317	Abnormal cerebellum morphology	2146	EZH2	OMIM:277590
HP:0001317	Abnormal cerebellum morphology	29929	ALG6	ORPHA:79320
HP:0001317	Abnormal cerebellum morphology	51750	RTEL1	ORPHA:3322
HP:0001317	Abnormal cerebellum morphology	51750	RTEL1	OMIM:615190
HP:0001317	Abnormal cerebellum morphology	65057	ACD	ORPHA:3322
HP:0001317	Abnormal cerebellum morphology	65057	ACD	OMIM:616553
HP:0001317	Abnormal cerebellum morphology	79087	ALG12	ORPHA:79324
HP:0001317	Abnormal cerebellum morphology	3897	L1CAM	OMIM:304100
HP:0001317	Abnormal cerebellum morphology	3897	L1CAM	ORPHA:1497
HP:0001317	Abnormal cerebellum morphology	10533	ATG7	OMIM:619422
HP:0001317	Abnormal cerebellum morphology	51645	PPIL1	OMIM:619301
HP:0001317	Abnormal cerebellum morphology	6576	SLC25A1	OMIM:615182
HP:0001317	Abnormal cerebellum morphology	51362	CDC40	OMIM:619302
HP:0001317	Abnormal cerebellum morphology	256297	PTF1A	ORPHA:65288
HP:0001317	Abnormal cerebellum morphology	256297	PTF1A	OMIM:609069
HP:0001317	Abnormal cerebellum morphology	55656	INTS8	OMIM:618572
HP:0001317	Abnormal cerebellum morphology	10243	GPHN	OMIM:615501
HP:0001317	Abnormal cerebellum morphology	29968	PSAT1	OMIM:616038
HP:0001317	Abnormal cerebellum morphology	51013	EXOSC1	OMIM:619304
HP:0001317	Abnormal cerebellum morphology	57724	EPG5	ORPHA:1493
HP:0001317	Abnormal cerebellum morphology	84181	CHD6	ORPHA:2108
HP:0001317	Abnormal cerebellum morphology	30000	TNPO2	OMIM:619556
HP:0001317	Abnormal cerebellum morphology	160418	TMTC3	OMIM:617255
HP:0001317	Abnormal cerebellum morphology	2187	FANCB	OMIM:300514
HP:0001317	Abnormal cerebellum morphology	2879	GPX4	ORPHA:93317
HP:0001317	Abnormal cerebellum morphology	55505	NOP10	OMIM:620425
HP:0001317	Abnormal cerebellum morphology	55593	OTUD5	OMIM:301056
HP:0001317	Abnormal cerebellum morphology	1436	CSF1R	OMIM:618476
HP:0001317	Abnormal cerebellum morphology	1062	CENPE	OMIM:616051
HP:0001317	Abnormal cerebellum morphology	4081	MAB21L1	OMIM:618479
HP:0001317	Abnormal cerebellum morphology	4081	MAB21L1	ORPHA:495875
HP:0001317	Abnormal cerebellum morphology	8320	EOMES	ORPHA:171703
HP:0001317	Abnormal cerebellum morphology	157922	CAMSAP1	OMIM:620316
HP:0001317	Abnormal cerebellum morphology	7012	TERC	OMIM:127550
HP:0001317	Abnormal cerebellum morphology	5048	PAFAH1B1	OMIM:607432
HP:0001317	Abnormal cerebellum morphology	64221	ROBO3	OMIM:607313
HP:0001317	Abnormal cerebellum morphology	7547	ZIC3	OMIM:306955
HP:0001317	Abnormal cerebellum morphology	4784	NFIX	OMIM:602535
HP:0001317	Abnormal cerebellum morphology	4784	NFIX	ORPHA:561
HP:0001317	Abnormal cerebellum morphology	23221	RHOBTB2	OMIM:618004
HP:0001317	Abnormal cerebellum morphology	79641	ROGDI	OMIM:226750
HP:0001317	Abnormal cerebellum morphology	11274	USP18	OMIM:617397
HP:0001317	Abnormal cerebellum morphology	26007	TKFC	OMIM:618805
HP:0001317	Abnormal cerebellum morphology	1063	CENPF	OMIM:243605
HP:0001317	Abnormal cerebellum morphology	6821	SUOX	OMIM:272300
HP:0001317	Abnormal cerebellum morphology	191	AHCY	ORPHA:88618
HP:0001317	Abnormal cerebellum morphology	4700	NDUFA6	OMIM:618253
HP:0001317	Abnormal cerebellum morphology	3188	HNRNPH2	OMIM:300986
HP:0001317	Abnormal cerebellum morphology	83696	TRAPPC9	ORPHA:352530
HP:0001317	Abnormal cerebellum morphology	57572	DOCK6	OMIM:614219
HP:0001317	Abnormal cerebellum morphology	80347	COASY	OMIM:618266
HP:0001317	Abnormal cerebellum morphology	340075	ARSI	ORPHA:401815
HP:0001317	Abnormal cerebellum morphology	57003	CCDC47	OMIM:618268
HP:0001317	Abnormal cerebellum morphology	112858	TP53RK	OMIM:617730
HP:0001317	Abnormal cerebellum morphology	27107	ZBTB11	OMIM:618383
HP:0001317	Abnormal cerebellum morphology	29957	SLC25A24	OMIM:612289
HP:0001317	Abnormal cerebellum morphology	3839	KPNA3	OMIM:620106
HP:0001317	Abnormal cerebellum morphology	5162	PDHB	ORPHA:255138
HP:0001317	Abnormal cerebellum morphology	4841	NONO	OMIM:300967
HP:0001317	Abnormal cerebellum morphology	4841	NONO	ORPHA:466791
HP:0001317	Abnormal cerebellum morphology	51124	IER3IP1	OMIM:614231
HP:0001317	Abnormal cerebellum morphology	22983	MAST1	OMIM:618273
HP:0001317	Abnormal cerebellum morphology	55640	FLVCR2	OMIM:225790
HP:0001317	Abnormal cerebellum morphology	202018	TAPT1	OMIM:616897
HP:0001317	Abnormal cerebellum morphology	79867	TCTN2	OMIM:616654
HP:0001317	Abnormal cerebellum morphology	7291	TWIST1	OMIM:617746
HP:0001317	Abnormal cerebellum morphology	100506658	OCLN	OMIM:251290
HP:0001317	Abnormal cerebellum morphology	93587	TRMT10A	ORPHA:391408
HP:0001317	Abnormal cerebellum morphology	84919	PPP1R15B	ORPHA:391408
HP:0001317	Abnormal cerebellum morphology	60386	SLC25A19	OMIM:607196
HP:0001317	Abnormal cerebellum morphology	259266	ASPM	OMIM:608716
HP:0001317	Abnormal cerebellum morphology	153241	CEP120	OMIM:616300
HP:0001317	Abnormal cerebellum morphology	23545	ATP6V0A2	ORPHA:357074
HP:0001317	Abnormal cerebellum morphology	529	ATP6V1E1	ORPHA:357074
HP:0001317	Abnormal cerebellum morphology	440	ASNS	OMIM:615574
HP:0001317	Abnormal cerebellum morphology	9731	CEP104	OMIM:616781
HP:0001317	Abnormal cerebellum morphology	9939	RBM8A	OMIM:274000
HP:0001317	Abnormal cerebellum morphology	1719	DHFR	OMIM:613839
HP:0001317	Abnormal cerebellum morphology	55074	OXR1	OMIM:213000
HP:0001317	Abnormal cerebellum morphology	23299	BICD2	OMIM:618291
HP:0001317	Abnormal cerebellum morphology	57647	DHX37	OMIM:618731
HP:0001317	Abnormal cerebellum morphology	18	ABAT	OMIM:613163
HP:0001317	Abnormal cerebellum morphology	1496	CTNNA2	OMIM:618174
HP:0001317	Abnormal cerebellum morphology	7471	WNT1	OMIM:615220
HP:0001317	Abnormal cerebellum morphology	51259	TMEM216	OMIM:608091
HP:0001317	Abnormal cerebellum morphology	9851	KIAA0753	OMIM:619479
HP:0001317	Abnormal cerebellum morphology	64840	PORCN	OMIM:305600
HP:0001317	Abnormal cerebellum morphology	2294	FOXF1	OMIM:265380
HP:0001317	Abnormal cerebellum morphology	5447	POR	OMIM:201750
HP:0001317	Abnormal cerebellum morphology	5447	POR	ORPHA:95699
HP:0001317	Abnormal cerebellum morphology	3590	IL11RA	OMIM:614188
HP:0001317	Abnormal cerebellum morphology	4659	PPP1R12A	OMIM:618820
HP:0001317	Abnormal cerebellum morphology	6804	STX1A	ORPHA:904
HP:0001317	Abnormal cerebellum morphology	7461	CLIP2	ORPHA:904
HP:0001317	Abnormal cerebellum morphology	84277	DNAJC30	ORPHA:904
HP:0001317	Abnormal cerebellum morphology	8468	FKBP6	ORPHA:904
HP:0001317	Abnormal cerebellum morphology	5982	RFC2	ORPHA:904
HP:0001317	Abnormal cerebellum morphology	2969	GTF2I	ORPHA:904
HP:0001317	Abnormal cerebellum morphology	3984	LIMK1	ORPHA:904
HP:0001317	Abnormal cerebellum morphology	9569	GTF2IRD1	ORPHA:904
HP:0001317	Abnormal cerebellum morphology	155382	VPS37D	ORPHA:904
HP:0001317	Abnormal cerebellum morphology	155368	METTL27	ORPHA:904
HP:0001317	Abnormal cerebellum morphology	114049	BUD23	ORPHA:904
HP:0001317	Abnormal cerebellum morphology	7458	EIF4H	ORPHA:904
HP:0001317	Abnormal cerebellum morphology	84163	GTF2IRD2	ORPHA:904
HP:0001317	Abnormal cerebellum morphology	26608	TBL2	ORPHA:904
HP:0001317	Abnormal cerebellum morphology	653361	NCF1	ORPHA:904
HP:0001317	Abnormal cerebellum morphology	135886	TMEM270	ORPHA:904
HP:0001317	Abnormal cerebellum morphology	9031	BAZ1B	ORPHA:904
HP:0001317	Abnormal cerebellum morphology	2006	ELN	ORPHA:904
HP:0001317	Abnormal cerebellum morphology	22800	RRAS2	OMIM:618624
HP:0001317	Abnormal cerebellum morphology	10283	CWC27	OMIM:250410
HP:0001317	Abnormal cerebellum morphology	10992	SF3B2	OMIM:164210
HP:0001317	Abnormal cerebellum morphology	1788	DNMT3A	ORPHA:404443
HP:0001317	Abnormal cerebellum morphology	4796	TONSL	ORPHA:93357
HP:0001317	Abnormal cerebellum morphology	4796	TONSL	OMIM:271510
HP:0001317	Abnormal cerebellum morphology	81839	VANGL1	ORPHA:3027
HP:0001317	Abnormal cerebellum morphology	80199	FUZ	ORPHA:3027
HP:0001317	Abnormal cerebellum morphology	5745	PTH1R	OMIM:600002
HP:0001317	Abnormal cerebellum morphology	79718	TBL1XR1	OMIM:602342
HP:0001317	Abnormal cerebellum morphology	79718	TBL1XR1	ORPHA:487825
HP:0001317	Abnormal cerebellum morphology	1387	CREBBP	ORPHA:353281
HP:0001317	Abnormal cerebellum morphology	1387	CREBBP	ORPHA:353277
HP:0001317	Abnormal cerebellum morphology	55159	RFWD3	OMIM:617784
HP:0001317	Abnormal cerebellum morphology	55215	FANCI	OMIM:609053
HP:0001317	Abnormal cerebellum morphology	2263	FGFR2	OMIM:123790
HP:0001317	Abnormal cerebellum morphology	2263	FGFR2	ORPHA:87
HP:0001317	Abnormal cerebellum morphology	2263	FGFR2	ORPHA:93260
HP:0001317	Abnormal cerebellum morphology	2263	FGFR2	ORPHA:207
HP:0001317	Abnormal cerebellum morphology	2263	FGFR2	ORPHA:93259
HP:0001317	Abnormal cerebellum morphology	2263	FGFR2	OMIM:101600
HP:0001317	Abnormal cerebellum morphology	2033	EP300	ORPHA:353284
HP:0001317	Abnormal cerebellum morphology	6299	SALL1	ORPHA:857
HP:0001317	Abnormal cerebellum morphology	51339	DACT1	ORPHA:857
HP:0001317	Abnormal cerebellum morphology	6595	SMARCA2	OMIM:619293
HP:0001317	Abnormal cerebellum morphology	23387	SIK3	OMIM:618162
HP:0001317	Abnormal cerebellum morphology	6651	SON	ORPHA:500150
HP:0001317	Abnormal cerebellum morphology	1108	CHD4	OMIM:617159
HP:0001317	Abnormal cerebellum morphology	7048	TGFBR2	OMIM:610168
HP:0001317	Abnormal cerebellum morphology	2077	ERF	ORPHA:207
HP:0001317	Abnormal cerebellum morphology	2316	FLNA	ORPHA:1826
HP:0001317	Abnormal cerebellum morphology	6885	MAP3K7	ORPHA:1826
HP:0001317	Abnormal cerebellum morphology	2776	GNAQ	ORPHA:3205
HP:0001317	Abnormal cerebellum morphology	1513	CTSK	ORPHA:763
HP:0001317	Abnormal cerebellum morphology	9401	RECQL4	OMIM:218600
HP:0001317	Abnormal cerebellum morphology	8091	HMGA2	ORPHA:94063
HP:0001317	Abnormal cerebellum morphology	23592	LEMD3	ORPHA:94063
HP:0001317	Abnormal cerebellum morphology	54903	MKS1	OMIM:249000
HP:0001317	Abnormal cerebellum morphology	29072	SETD2	OMIM:616831
HP:0001317	Abnormal cerebellum morphology	4854	NOTCH3	ORPHA:2789
HP:0001317	Abnormal cerebellum morphology	7046	TGFBR1	OMIM:609192
HP:0001317	Abnormal cerebellum morphology	2200	FBN1	ORPHA:2462
HP:0001317	Abnormal cerebellum morphology	6497	SKI	ORPHA:2462
HP:0001317	Abnormal cerebellum morphology	4853	NOTCH2	ORPHA:955
HP:0001317	Abnormal cerebellum morphology	26834	RNU4-2	OMIM:620851
HP:0001317	Abnormal cerebellum morphology	4644	MYO5A	ORPHA:33445
HP:0001317	Abnormal cerebellum morphology	10381	TUBB3	ORPHA:300570
HP:0001317	Abnormal cerebellum morphology	4953	ODC1	ORPHA:544488
HP:0001317	Abnormal cerebellum morphology	63895	PIEZO2	ORPHA:2461
HP:0001317	Abnormal cerebellum morphology	84892	POMGNT2	ORPHA:899
HP:0001317	Abnormal cerebellum morphology	148789	B3GALNT2	ORPHA:899
HP:0001317	Abnormal cerebellum morphology	9215	LARGE1	ORPHA:899
HP:0001317	Abnormal cerebellum morphology	10329	RXYLT1	ORPHA:899
HP:0001317	Abnormal cerebellum morphology	1605	DAG1	ORPHA:899
HP:0001317	Abnormal cerebellum morphology	11041	B4GAT1	ORPHA:899
HP:0001317	Abnormal cerebellum morphology	4208	MEF2C	ORPHA:228384
HP:0001317	Abnormal cerebellum morphology	7020	TFAP2A	OMIM:113620
HP:0001317	Abnormal cerebellum morphology	79659	DYNC2H1	OMIM:613091
HP:0001317	Abnormal cerebellum morphology	1281	COL3A1	OMIM:618343
HP:0001317	Abnormal cerebellum morphology	116461	TSEN15	ORPHA:2524
HP:0001317	Abnormal cerebellum morphology	79042	TSEN34	ORPHA:2524
HP:0001317	Abnormal cerebellum morphology	8481	OFD1	OMIM:311200
HP:0001317	Abnormal cerebellum morphology	4519	MT-CYB	ORPHA:137675
HP:0001317	Abnormal cerebellum morphology	727676	SNORD118	ORPHA:542310
HP:0001317	Abnormal cerebellum morphology	6575	SLC20A2	OMIM:213600
HP:0001317	Abnormal cerebellum morphology	5159	PDGFRB	OMIM:213600
HP:0001317	Abnormal cerebellum morphology	57462	MYORG	OMIM:618317
HP:0001317	Abnormal cerebellum morphology	51360	MBTPS2	OMIM:308205
HP:0001317	Abnormal cerebellum morphology	3769	KCNJ13	ORPHA:65
HP:0001317	Abnormal cerebellum morphology	343035	RD3	ORPHA:65
HP:0001317	Abnormal cerebellum morphology	145226	RDH12	ORPHA:65
HP:0001317	Abnormal cerebellum morphology	1406	CRX	ORPHA:65
HP:0001317	Abnormal cerebellum morphology	57096	RPGRIP1	ORPHA:65
HP:0001317	Abnormal cerebellum morphology	80184	CEP290	ORPHA:65
HP:0001317	Abnormal cerebellum morphology	80184	CEP290	OMIM:610188
HP:0001317	Abnormal cerebellum morphology	80184	CEP290	OMIM:610189
HP:0001317	Abnormal cerebellum morphology	10383	TUBB4B	ORPHA:65
HP:0001317	Abnormal cerebellum morphology	9742	IFT140	ORPHA:65
HP:0001317	Abnormal cerebellum morphology	85015	USP45	ORPHA:65
HP:0001317	Abnormal cerebellum morphology	6121	RPE65	ORPHA:65
HP:0001317	Abnormal cerebellum morphology	23418	CRB1	ORPHA:65
HP:0001317	Abnormal cerebellum morphology	5130	PCYT1A	ORPHA:65
HP:0001317	Abnormal cerebellum morphology	9657	IQCB1	ORPHA:65
HP:0001317	Abnormal cerebellum morphology	392255	GDF6	ORPHA:65
HP:0001317	Abnormal cerebellum morphology	23746	AIPL1	ORPHA:65
HP:0001317	Abnormal cerebellum morphology	3000	GUCY2D	ORPHA:65
HP:0001317	Abnormal cerebellum morphology	9227	LRAT	ORPHA:65
HP:0001317	Abnormal cerebellum morphology	55812	SPATA7	ORPHA:65
HP:0001317	Abnormal cerebellum morphology	7287	TULP1	ORPHA:65
HP:0001317	Abnormal cerebellum morphology	167691	LCA5	ORPHA:65
HP:0001317	Abnormal cerebellum morphology	3614	IMPDH1	ORPHA:65
HP:0001317	Abnormal cerebellum morphology	80055	PGAP1	ORPHA:401820
HP:0001317	Abnormal cerebellum morphology	4281	MID1	ORPHA:2745
HP:0001317	Abnormal cerebellum morphology	4983	OPHN1	ORPHA:137831
HP:0001317	Abnormal cerebellum morphology	8450	CUL4B	OMIM:300354
HP:0001317	Abnormal cerebellum morphology	375	ARF1	OMIM:618185
HP:0001317	Abnormal cerebellum morphology	57680	CHD8	OMIM:615032
HP:0001317	Abnormal cerebellum morphology	9698	PUM1	OMIM:617931
HP:0001317	Abnormal cerebellum morphology	4311	MME	OMIM:617018
HP:0001317	Abnormal cerebellum morphology	4311	MME	ORPHA:497764
HP:0001317	Abnormal cerebellum morphology	83548	COG3	OMIM:620546
HP:0001317	Abnormal cerebellum morphology	9254	CACNA2D2	OMIM:618501
HP:0001317	Abnormal cerebellum morphology	26047	CNTNAP2	ORPHA:163681
HP:0001317	Abnormal cerebellum morphology	26047	CNTNAP2	OMIM:610042
HP:0001317	Abnormal cerebellum morphology	203068	TUBB	OMIM:156610
HP:0001317	Abnormal cerebellum morphology	5859	QARS1	OMIM:615760
HP:0001317	Abnormal cerebellum morphology	53335	BCL11A	OMIM:617101
HP:0001317	Abnormal cerebellum morphology	1742	DLG4	OMIM:618793
HP:0001317	Abnormal cerebellum morphology	4010	LMX1B	ORPHA:495818
HP:0001317	Abnormal cerebellum morphology	6812	STXBP1	ORPHA:495818
HP:0001317	Abnormal cerebellum morphology	54676	GTPBP2	OMIM:617988
HP:0001317	Abnormal cerebellum morphology	11261	CHP1	OMIM:618438
HP:0001317	Abnormal cerebellum morphology	116228	COX20	OMIM:619054
HP:0001317	Abnormal cerebellum morphology	7518	XRCC4	OMIM:616541
HP:0001317	Abnormal cerebellum morphology	57410	SCYL1	ORPHA:466794
HP:0001317	Abnormal cerebellum morphology	57410	SCYL1	OMIM:616719
HP:0001317	Abnormal cerebellum morphology	6874	TAF4	OMIM:620450
HP:0001317	Abnormal cerebellum morphology	6095	RORA	OMIM:618060
HP:0001317	Abnormal cerebellum morphology	1213	CLTC	OMIM:617854
HP:0001317	Abnormal cerebellum morphology	27183	VPS4A	OMIM:619273
HP:0001317	Abnormal cerebellum morphology	440193	CCDC88C	OMIM:616053
HP:0001317	Abnormal cerebellum morphology	440193	CCDC88C	ORPHA:423275
HP:0001317	Abnormal cerebellum morphology	3908	LAMA2	ORPHA:258
HP:0001317	Abnormal cerebellum morphology	7428	VHL	ORPHA:892
HP:0001317	Abnormal cerebellum morphology	7428	VHL	OMIM:193300
HP:0001317	Abnormal cerebellum morphology	595	CCND1	ORPHA:892
HP:0001317	Abnormal cerebellum morphology	595	CCND1	OMIM:193300
HP:0001317	Abnormal cerebellum morphology	27245	AHDC1	ORPHA:412069
HP:0001317	Abnormal cerebellum morphology	27245	AHDC1	OMIM:615829
HP:0001317	Abnormal cerebellum morphology	57688	ZSWIM6	ORPHA:1827
HP:0001317	Abnormal cerebellum morphology	57688	ZSWIM6	OMIM:603671
HP:0001317	Abnormal cerebellum morphology	5518	PPP2R1A	ORPHA:457284
HP:0001317	Abnormal cerebellum morphology	283989	TSEN54	OMIM:225753
HP:0001317	Abnormal cerebellum morphology	29899	GPSM2	OMIM:604213
HP:0001317	Abnormal cerebellum morphology	5879	RAC1	OMIM:617751
HP:0001317	Abnormal cerebellum morphology	5879	RAC1	ORPHA:500159
HP:0001317	Abnormal cerebellum morphology	10367	MICU1	OMIM:615673
HP:0001317	Abnormal cerebellum morphology	27286	SRPX2	ORPHA:98889
HP:0001317	Abnormal cerebellum morphology	84162	BLTP1	OMIM:617822
HP:0001317	Abnormal cerebellum morphology	284217	LAMA1	OMIM:615960
HP:0001317	Abnormal cerebellum morphology	284217	LAMA1	ORPHA:370022
HP:0001317	Abnormal cerebellum morphology	3417	IDH1	ORPHA:99646
HP:0001317	Abnormal cerebellum morphology	1822	ATN1	OMIM:125370
HP:0001317	Abnormal cerebellum morphology	26173	INTS1	OMIM:618571
HP:0001317	Abnormal cerebellum morphology	4190	MDH1	OMIM:618959
HP:0001317	Abnormal cerebellum morphology	50628	GEMIN4	OMIM:617913
HP:0001317	Abnormal cerebellum morphology	5251	PHEX	ORPHA:89936
HP:0001317	Abnormal cerebellum morphology	5977	DPF2	OMIM:618027
HP:0001317	Abnormal cerebellum morphology	148867	SLC30A7	OMIM:620501
HP:0001317	Abnormal cerebellum morphology	4774	NFIA	OMIM:613735
HP:0001317	Abnormal cerebellum morphology	4774	NFIA	ORPHA:401986
HP:0001317	Abnormal cerebellum morphology	80036	TRPM3	OMIM:620224
HP:0001317	Abnormal cerebellum morphology	284058	KANSL1	ORPHA:363965
HP:0001317	Abnormal cerebellum morphology	284058	KANSL1	ORPHA:363958
HP:0001317	Abnormal cerebellum morphology	4094	MAF	ORPHA:1272
HP:0001317	Abnormal cerebellum morphology	4094	MAF	OMIM:601088
HP:0001317	Abnormal cerebellum morphology	8318	CDC45	OMIM:617063
HP:0001317	Abnormal cerebellum morphology	5500	PPP1CB	OMIM:617506
HP:0001317	Abnormal cerebellum morphology	9772	TMEM94	OMIM:618316
HP:0001317	Abnormal cerebellum morphology	57551	TAOK1	OMIM:619575
HP:0001317	Abnormal cerebellum morphology	10274	STAG1	OMIM:617635
HP:0001317	Abnormal cerebellum morphology	4791	NFKB2	OMIM:615577
HP:0001317	Abnormal cerebellum morphology	6774	STAT3	ORPHA:2314
HP:0001317	Abnormal cerebellum morphology	22943	DKK1	ORPHA:268882
HP:0001317	Abnormal cerebellum morphology	79947	DHDDS	OMIM:617836
HP:0001317	Abnormal cerebellum morphology	8799	PEX11B	OMIM:614920
HP:0001317	Abnormal cerebellum morphology	11145	PLAAT3	OMIM:620683
HP:0001317	Abnormal cerebellum morphology	5076	PAX2	OMIM:120330
HP:0001317	Abnormal cerebellum morphology	25970	SH2B1	ORPHA:261197
HP:0001317	Abnormal cerebellum morphology	5888	RAD51	OMIM:617244
HP:0001317	Abnormal cerebellum morphology	4858	NOVA2	OMIM:618859
HP:0001317	Abnormal cerebellum morphology	27133	KCNH5	OMIM:620537
HP:0001317	Abnormal cerebellum morphology	161742	SPRED1	ORPHA:137605
HP:0001317	Abnormal cerebellum morphology	26040	SETBP1	ORPHA:798
HP:0001317	Abnormal cerebellum morphology	8085	KMT2D	OMIM:147920
HP:0001317	Abnormal cerebellum morphology	7403	KDM6A	OMIM:147920
HP:0001317	Abnormal cerebellum morphology	5190	PEX6	ORPHA:95433
HP:0001317	Abnormal cerebellum morphology	58494	JAM2	OMIM:618824
HP:0001317	Abnormal cerebellum morphology	129607	CMPK2	OMIM:621018
HP:0001317	Abnormal cerebellum morphology	79903	NAA60	OMIM:620786
HP:0001317	Abnormal cerebellum morphology	5932	RBBP8	OMIM:606744
HP:0001317	Abnormal cerebellum morphology	11277	TREX1	OMIM:225750
HP:0001317	Abnormal cerebellum morphology	23476	BRD4	ORPHA:199
HP:0001317	Abnormal cerebellum morphology	9126	SMC3	ORPHA:199
HP:0001317	Abnormal cerebellum morphology	8243	SMC1A	ORPHA:199
HP:0001317	Abnormal cerebellum morphology	6878	TAF6	ORPHA:199
HP:0001317	Abnormal cerebellum morphology	25836	NIPBL	ORPHA:199
HP:0001317	Abnormal cerebellum morphology	55869	HDAC8	ORPHA:199
HP:0001317	Abnormal cerebellum morphology	5885	RAD21	ORPHA:199
HP:0001317	Abnormal cerebellum morphology	5396	PRRX1	ORPHA:990
HP:0001317	Abnormal cerebellum morphology	5015	OTX2	ORPHA:990
HP:0001317	Abnormal cerebellum morphology	5015	OTX2	ORPHA:3157
HP:0001317	Abnormal cerebellum morphology	7399	USH2A	ORPHA:231178
HP:0001317	Abnormal cerebellum morphology	79955	PDZD7	ORPHA:231178
HP:0001317	Abnormal cerebellum morphology	4647	MYO7A	ORPHA:231178
HP:0001317	Abnormal cerebellum morphology	4647	MYO7A	ORPHA:231169
HP:0001317	Abnormal cerebellum morphology	25861	WHRN	ORPHA:231178
HP:0001317	Abnormal cerebellum morphology	84059	ADGRV1	ORPHA:231178
HP:0001317	Abnormal cerebellum morphology	27238	GPKOW	ORPHA:2570
HP:0001317	Abnormal cerebellum morphology	6197	RPS6KA3	ORPHA:192
HP:0001317	Abnormal cerebellum morphology	3265	HRAS	ORPHA:2612
HP:0001317	Abnormal cerebellum morphology	3845	KRAS	ORPHA:2612
HP:0001317	Abnormal cerebellum morphology	4893	NRAS	ORPHA:2612
HP:0001317	Abnormal cerebellum morphology	8239	USP9X	ORPHA:480880
HP:0001317	Abnormal cerebellum morphology	11340	EXOSC8	ORPHA:2254
HP:0001317	Abnormal cerebellum morphology	7443	VRK1	ORPHA:2254
HP:0001317	Abnormal cerebellum morphology	2737	GLI3	ORPHA:36
HP:0001317	Abnormal cerebellum morphology	374654	KIF7	ORPHA:36
HP:0001317	Abnormal cerebellum morphology	1654	DDX3X	ORPHA:3338
HP:0001317	Abnormal cerebellum morphology	22858	CILK1	OMIM:612651
HP:0001317	Abnormal cerebellum morphology	9640	ZNF592	ORPHA:83472
HP:0001317	Abnormal cerebellum morphology	55636	CHD7	ORPHA:138
HP:0001317	Abnormal cerebellum morphology	9723	SEMA3E	ORPHA:138
HP:0001317	Abnormal cerebellum morphology	23499	MACF1	ORPHA:572013
HP:0001317	Abnormal cerebellum morphology	387119	CEP85L	ORPHA:572013
HP:0001317	Abnormal cerebellum morphology	389827	MYMK	ORPHA:1358
HP:0001317	Abnormal cerebellum morphology	101929726	MYMX	ORPHA:1358
HP:0001317	Abnormal cerebellum morphology	2261	FGFR3	ORPHA:93262
HP:0001317	Abnormal cerebellum morphology	2068	ERCC2	ORPHA:1466
HP:0001317	Abnormal cerebellum morphology	2067	ERCC1	ORPHA:1466
HP:0001317	Abnormal cerebellum morphology	2073	ERCC5	ORPHA:1466
HP:0001317	Abnormal cerebellum morphology	85378	TUBGCP6	ORPHA:2518
HP:0001317	Abnormal cerebellum morphology	27229	TUBGCP4	ORPHA:2518
HP:0001317	Abnormal cerebellum morphology	4693	NDP	ORPHA:649
HP:0001317	Abnormal cerebellum morphology	2697	GJA1	ORPHA:2710
HP:0001317	Abnormal cerebellum morphology	9897	WASHC5	ORPHA:7
HP:0001317	Abnormal cerebellum morphology	28952	CCDC22	ORPHA:7
HP:0001317	Abnormal cerebellum morphology	57020	VPS35L	ORPHA:7
HP:0001317	Abnormal cerebellum morphology	56896	DPYSL5	ORPHA:7
HP:0001317	Abnormal cerebellum morphology	64072	CDH23	ORPHA:231169
HP:0001317	Abnormal cerebellum morphology	10083	USH1C	ORPHA:231169
HP:0001317	Abnormal cerebellum morphology	124590	USH1G	ORPHA:231169
HP:0001317	Abnormal cerebellum morphology	83715	ESPN	ORPHA:231169
HP:0001317	Abnormal cerebellum morphology	10518	CIB2	ORPHA:231169
HP:0001317	Abnormal cerebellum morphology	65217	PCDH15	ORPHA:231169
HP:0001317	Abnormal cerebellum morphology	4524	MTHFR	ORPHA:563612
HP:0001317	Abnormal cerebellum morphology	57216	VANGL2	ORPHA:563612
HP:0001317	Abnormal cerebellum morphology	7469	NELFA	ORPHA:280
HP:0001317	Abnormal cerebellum morphology	7468	NSD2	ORPHA:280
HP:0001317	Abnormal cerebellum morphology	9184	BUB3	ORPHA:1052
HP:0001317	Abnormal cerebellum morphology	699	BUB1	ORPHA:1052
HP:0001317	Abnormal cerebellum morphology	9702	CEP57	ORPHA:1052
HP:0001317	Abnormal cerebellum morphology	9319	TRIP13	ORPHA:1052
HP:0001317	Abnormal cerebellum morphology	701	BUB1B	ORPHA:1052
HP:0001317	Abnormal cerebellum morphology	56623	INPP5E	ORPHA:1454
HP:0001317	Abnormal cerebellum morphology	91147	TMEM67	ORPHA:1454
HP:0001317	Abnormal cerebellum morphology	23322	RPGRIP1L	ORPHA:1454
HP:0001317	Abnormal cerebellum morphology	57545	CC2D2A	ORPHA:1454
HP:0001317	Abnormal cerebellum morphology	2260	FGFR1	ORPHA:3157
HP:0001317	Abnormal cerebellum morphology	128674	PROKR2	ORPHA:3157
HP:0001317	Abnormal cerebellum morphology	6657	SOX2	ORPHA:3157
HP:0001317	Abnormal cerebellum morphology	6658	SOX3	ORPHA:3157
HP:0001317	Abnormal cerebellum morphology	9915	ARNT2	ORPHA:3157
HP:0001317	Abnormal cerebellum morphology	4668	NAGA	ORPHA:79279
HP:0001317	Abnormal cerebellum morphology	9373	PLAA	ORPHA:521426
HP:0001317	Abnormal cerebellum morphology	6309	SC5D	ORPHA:46059
HP:0001317	Abnormal cerebellum morphology	8882	ZPR1	OMIM:619321
HP:0001317	Abnormal cerebellum morphology	2313	FLI1	ORPHA:370348
HP:0001317	Abnormal cerebellum morphology	9839	ZEB2	ORPHA:261537
HP:0001317	Abnormal cerebellum morphology	9839	ZEB2	ORPHA:261552
HP:0001317	Abnormal cerebellum morphology	10015	PDCD6IP	OMIM:620047
HP:0001317	Abnormal cerebellum morphology	23028	KDM1A	ORPHA:477993
HP:0001317	Abnormal cerebellum morphology	29998	BICRA	OMIM:619325
HP:0001317	Abnormal cerebellum morphology	2019	EN1	OMIM:619218
HP:0001317	Abnormal cerebellum morphology	9361	LONP1	ORPHA:79243
HP:0001317	Abnormal cerebellum morphology	5160	PDHA1	ORPHA:79243
HP:0001317	Abnormal cerebellum morphology	84667	HES7	OMIM:613686
HP:0001317	Abnormal cerebellum morphology	128240	NAXE	OMIM:617186
HP:0001317	Abnormal cerebellum morphology	526	ATP6V1B2	ORPHA:79500
HP:0001317	Abnormal cerebellum morphology	55770	EXOC2	OMIM:619306
HP:0001317	Abnormal cerebellum morphology	28514	DLL1	ORPHA:280195
HP:0001317	Abnormal cerebellum morphology	2253	FGF8	ORPHA:280195
HP:0001317	Abnormal cerebellum morphology	6496	SIX3	ORPHA:280195
HP:0001317	Abnormal cerebellum morphology	7050	TGIF1	ORPHA:280195
HP:0001317	Abnormal cerebellum morphology	6469	SHH	ORPHA:280195
HP:0001317	Abnormal cerebellum morphology	6491	STIL	ORPHA:280195
HP:0001317	Abnormal cerebellum morphology	2619	GAS1	ORPHA:280195
HP:0001317	Abnormal cerebellum morphology	84976	DISP1	ORPHA:280195
HP:0001317	Abnormal cerebellum morphology	2736	GLI2	ORPHA:280195
HP:0001317	Abnormal cerebellum morphology	8928	FOXH1	ORPHA:280195
HP:0001317	Abnormal cerebellum morphology	6997	CRIPTO	ORPHA:280195
HP:0001317	Abnormal cerebellum morphology	5727	PTCH1	ORPHA:280195
HP:0001317	Abnormal cerebellum morphology	50937	CDON	ORPHA:280195
HP:0001317	Abnormal cerebellum morphology	686	BTD	OMIM:253260
HP:0001317	Abnormal cerebellum morphology	819	CAMLG	OMIM:620201
HP:0001317	Abnormal cerebellum morphology	404672	GTF2H5	ORPHA:33364
HP:0001317	Abnormal cerebellum morphology	7737	RNF113A	ORPHA:33364
HP:0001317	Abnormal cerebellum morphology	136647	MPLKIP	ORPHA:33364
HP:0001317	Abnormal cerebellum morphology	6897	TARS1	ORPHA:33364
HP:0001317	Abnormal cerebellum morphology	16	AARS1	ORPHA:33364
HP:0001317	Abnormal cerebellum morphology	2961	GTF2E2	ORPHA:33364
HP:0001317	Abnormal cerebellum morphology	1182	CLCN3	OMIM:619517
HP:0001317	Abnormal cerebellum morphology	1182	CLCN3	OMIM:619512
HP:0001317	Abnormal cerebellum morphology	1356	CP	ORPHA:48818
HP:0001317	Abnormal cerebellum morphology	2512	FTL	ORPHA:157846
HP:0004557	Anterior vertebral fusion	1280	COL2A1	ORPHA:485
HP:0004568	Beaking of vertebral bodies	79158	GNPTAB	OMIM:252500
HP:0004568	Beaking of vertebral bodies	4763	NF1	ORPHA:97685
HP:0004568	Beaking of vertebral bodies	1311	COMP	ORPHA:750
HP:0004568	Beaking of vertebral bodies	1311	COMP	OMIM:177170
HP:0004568	Beaking of vertebral bodies	54808	DYM	OMIM:223800
HP:0004568	Beaking of vertebral bodies	54808	DYM	OMIM:607326
HP:0004568	Beaking of vertebral bodies	54808	DYM	ORPHA:239
HP:0004568	Beaking of vertebral bodies	126792	B3GALT6	ORPHA:536467
HP:0004568	Beaking of vertebral bodies	126792	B3GALT6	OMIM:615349
HP:0004568	Beaking of vertebral bodies	126792	B3GALT6	OMIM:271640
HP:0004568	Beaking of vertebral bodies	4882	NPR2	OMIM:602875
HP:0004568	Beaking of vertebral bodies	4882	NPR2	ORPHA:40
HP:0004568	Beaking of vertebral bodies	60561	RINT1	OMIM:618641
HP:0004568	Beaking of vertebral bodies	5331	PLCB3	OMIM:618961
HP:0004568	Beaking of vertebral bodies	153642	ARSK	OMIM:619698
HP:0004568	Beaking of vertebral bodies	1280	COL2A1	OMIM:616583
HP:0004568	Beaking of vertebral bodies	1280	COL2A1	OMIM:108300
HP:0004568	Beaking of vertebral bodies	1280	COL2A1	OMIM:604864
HP:0004568	Beaking of vertebral bodies	89970	RSPRY1	ORPHA:457395
HP:0004568	Beaking of vertebral bodies	2517	FUCA1	OMIM:230000
HP:0004568	Beaking of vertebral bodies	2720	GLB1	OMIM:230500
HP:0004568	Beaking of vertebral bodies	2720	GLB1	OMIM:230600
HP:0004568	Beaking of vertebral bodies	92344	GORAB	ORPHA:2078
HP:0004568	Beaking of vertebral bodies	92344	GORAB	OMIM:231070
HP:0004568	Beaking of vertebral bodies	5831	PYCR1	ORPHA:2078
HP:0004568	Beaking of vertebral bodies	5593	PRKG2	OMIM:619636
HP:0004568	Beaking of vertebral bodies	285590	SH3PXD2B	ORPHA:137834
HP:0004568	Beaking of vertebral bodies	138050	HGSNAT	OMIM:252930
HP:0004568	Beaking of vertebral bodies	54499	TMCO1	OMIM:213980
HP:0004568	Beaking of vertebral bodies	1302	COL11A2	OMIM:215150
HP:0004568	Beaking of vertebral bodies	2317	FLNB	OMIM:150250
HP:0004568	Beaking of vertebral bodies	5176	SERPINF1	OMIM:613982
HP:0004568	Beaking of vertebral bodies	8838	CCN6	ORPHA:1159
HP:0004568	Beaking of vertebral bodies	175	AGA	OMIM:208400
HP:0004568	Beaking of vertebral bodies	175	AGA	ORPHA:93
HP:0004568	Beaking of vertebral bodies	25871	NEPRO	OMIM:618853
HP:0004568	Beaking of vertebral bodies	2990	GUSB	OMIM:253220
HP:0004568	Beaking of vertebral bodies	2990	GUSB	ORPHA:584
HP:0004568	Beaking of vertebral bodies	2588	GALNS	OMIM:253000
HP:0004571	Widening of cervical spinal canal	2733	GLE1	OMIM:253310
HP:0005121	Posterior scalloping of vertebral bodies	54187	NANS	OMIM:610442
HP:0005121	Posterior scalloping of vertebral bodies	26137	ZBTB20	OMIM:259050
HP:0005121	Posterior scalloping of vertebral bodies	26137	ZBTB20	ORPHA:3042
HP:0005121	Posterior scalloping of vertebral bodies	3835	KIF22	OMIM:603546
HP:0005121	Posterior scalloping of vertebral bodies	153642	ARSK	OMIM:619698
HP:0004573	Anterior wedging of T11	2535	FZD2	OMIM:164745
HP:0004573	Anterior wedging of T11	633	BGN	OMIM:300106
HP:0004576	Sclerotic vertebral endplates	50964	SOST	OMIM:269500
HP:0004576	Sclerotic vertebral endplates	1758	DMP1	ORPHA:289176
HP:0004576	Sclerotic vertebral endplates	5167	ENPP1	ORPHA:289176
HP:0004576	Sclerotic vertebral endplates	1186	CLCN7	OMIM:611490
HP:0004576	Sclerotic vertebral endplates	8838	CCN6	OMIM:208230
HP:0004576	Sclerotic vertebral endplates	79705	LRRK1	OMIM:615198
HP:0100861	Sclerotic vertebral body	4041	LRP5	ORPHA:2790
HP:0100861	Sclerotic vertebral body	4041	LRP5	OMIM:144750
HP:0100861	Sclerotic vertebral body	1436	CSF1R	OMIM:618476
HP:0100038	Slow-growing scalp hair	1041	CDSN	ORPHA:90368
HP:0100038	Slow-growing scalp hair	121391	KRT74	ORPHA:90368
HP:0100038	Slow-growing scalp hair	6868	ADAM17	ORPHA:294023
HP:0100038	Slow-growing scalp hair	1956	EGFR	ORPHA:294023
HP:0004552	Scarring alopecia of scalp	10804	GJB6	ORPHA:477
HP:0004552	Scarring alopecia of scalp	2706	GJB2	ORPHA:477
HP:0004552	Scarring alopecia of scalp	2706	GJB2	OMIM:602540
HP:0004552	Scarring alopecia of scalp	51360	MBTPS2	OMIM:308800
HP:0004552	Scarring alopecia of scalp	1308	COL17A1	OMIM:619787
HP:0004552	Scarring alopecia of scalp	1308	COL17A1	ORPHA:251393
HP:0004552	Scarring alopecia of scalp	1308	COL17A1	ORPHA:79402
HP:0004552	Scarring alopecia of scalp	5339	PLEC	OMIM:226670
HP:0004552	Scarring alopecia of scalp	5339	PLEC	ORPHA:158684
HP:0004552	Scarring alopecia of scalp	3691	ITGB4	ORPHA:158684
HP:0004552	Scarring alopecia of scalp	3691	ITGB4	ORPHA:251393
HP:0004552	Scarring alopecia of scalp	3691	ITGB4	ORPHA:79402
HP:0004552	Scarring alopecia of scalp	10682	EBP	ORPHA:35173
HP:0004552	Scarring alopecia of scalp	126695	KDF1	OMIM:617337
HP:0004552	Scarring alopecia of scalp	387	RHOA	OMIM:618727
HP:0004552	Scarring alopecia of scalp	9076	CLDN1	ORPHA:59303
HP:0004552	Scarring alopecia of scalp	7390	UROS	ORPHA:79277
HP:0004552	Scarring alopecia of scalp	2623	GATA1	ORPHA:79277
HP:0004552	Scarring alopecia of scalp	7389	UROD	ORPHA:95159
HP:0004552	Scarring alopecia of scalp	3909	LAMA3	ORPHA:79402
HP:0004552	Scarring alopecia of scalp	3918	LAMC2	ORPHA:79402
HP:0004552	Scarring alopecia of scalp	3914	LAMB3	ORPHA:79402
HP:0002289	Alopecia universalis	1832	DSP	OMIM:609638
HP:0002289	Alopecia universalis	5317	PKP1	ORPHA:158668
HP:0002289	Alopecia universalis	326	AIRE	OMIM:240300
HP:0002289	Alopecia universalis	162514	TRPV3	OMIM:614594
HP:0002289	Alopecia universalis	7421	VDR	OMIM:277440
HP:0002289	Alopecia universalis	6635	SNRPE	OMIM:615059
HP:0002289	Alopecia universalis	4000	LMNA	ORPHA:363618
HP:0002289	Alopecia universalis	197	AHSG	OMIM:203650
HP:0002289	Alopecia universalis	64065	PERP	OMIM:619208
HP:0002289	Alopecia universalis	55806	HR	OMIM:203655
HP:0002289	Alopecia universalis	55806	HR	ORPHA:701
HP:0002289	Alopecia universalis	3559	IL2RA	OMIM:606367
HP:0004502	Bilateral choanal atresia	8626	TP63	OMIM:106260
HP:0004502	Bilateral choanal atresia	10606	PAICS	OMIM:619859
HP:0004502	Bilateral choanal atresia	25885	POLR1A	ORPHA:1200
HP:0004502	Bilateral choanal atresia	25885	POLR1A	OMIM:616462
HP:0004502	Bilateral choanal atresia	10907	TXNL4A	ORPHA:1200
HP:0004502	Bilateral choanal atresia	10907	TXNL4A	OMIM:608572
HP:0004502	Bilateral choanal atresia	2542	SLC37A4	OMIM:619525
HP:0004502	Bilateral choanal atresia	2304	FOXE1	OMIM:241850
HP:0004502	Bilateral choanal atresia	8085	KMT2D	OMIM:620186
HP:0004502	Bilateral choanal atresia	79633	FAT4	ORPHA:314679
HP:0004502	Bilateral choanal atresia	8642	DCHS1	ORPHA:314679
HP:0001320	Cerebellar vermis hypoplasia	10682	EBP	ORPHA:401973
HP:0001320	Cerebellar vermis hypoplasia	10682	EBP	OMIM:300960
HP:0001320	Cerebellar vermis hypoplasia	10682	EBP	OMIM:302960
HP:0001320	Cerebellar vermis hypoplasia	56896	DPYSL5	OMIM:619435
HP:0001320	Cerebellar vermis hypoplasia	56896	DPYSL5	ORPHA:7
HP:0001320	Cerebellar vermis hypoplasia	3265	HRAS	ORPHA:2612
HP:0001320	Cerebellar vermis hypoplasia	3845	KRAS	ORPHA:2612
HP:0001320	Cerebellar vermis hypoplasia	3845	KRAS	OMIM:609942
HP:0001320	Cerebellar vermis hypoplasia	4893	NRAS	ORPHA:2612
HP:0001320	Cerebellar vermis hypoplasia	4893	NRAS	OMIM:249400
HP:0001320	Cerebellar vermis hypoplasia	23556	PIGN	ORPHA:2059
HP:0001320	Cerebellar vermis hypoplasia	7355	SLC35A2	ORPHA:356961
HP:0001320	Cerebellar vermis hypoplasia	7545	ZIC1	OMIM:616602
HP:0001320	Cerebellar vermis hypoplasia	7545	ZIC1	OMIM:618736
HP:0001320	Cerebellar vermis hypoplasia	84942	WDR73	OMIM:251300
HP:0001320	Cerebellar vermis hypoplasia	2737	GLI3	ORPHA:36
HP:0001320	Cerebellar vermis hypoplasia	57465	TBC1D24	OMIM:220500
HP:0001320	Cerebellar vermis hypoplasia	57465	TBC1D24	ORPHA:79500
HP:0001320	Cerebellar vermis hypoplasia	55112	DYNC2I1	ORPHA:93271
HP:0001320	Cerebellar vermis hypoplasia	57560	IFT80	ORPHA:93271
HP:0001320	Cerebellar vermis hypoplasia	57539	WDR35	ORPHA:93271
HP:0001320	Cerebellar vermis hypoplasia	79659	DYNC2H1	ORPHA:93271
HP:0001320	Cerebellar vermis hypoplasia	89891	DYNC2I2	ORPHA:93271
HP:0001320	Cerebellar vermis hypoplasia	1436	CSF1R	OMIM:618476
HP:0001320	Cerebellar vermis hypoplasia	84162	BLTP1	OMIM:617822
HP:0001320	Cerebellar vermis hypoplasia	55636	CHD7	ORPHA:138
HP:0001320	Cerebellar vermis hypoplasia	9723	SEMA3E	ORPHA:138
HP:0001320	Cerebellar vermis hypoplasia	2218	FKTN	OMIM:236670
HP:0001320	Cerebellar vermis hypoplasia	2218	FKTN	ORPHA:899
HP:0001320	Cerebellar vermis hypoplasia	84892	POMGNT2	ORPHA:899
HP:0001320	Cerebellar vermis hypoplasia	148789	B3GALNT2	ORPHA:899
HP:0001320	Cerebellar vermis hypoplasia	1282	COL4A1	ORPHA:899
HP:0001320	Cerebellar vermis hypoplasia	729920	CRPPA	ORPHA:899
HP:0001320	Cerebellar vermis hypoplasia	729920	CRPPA	OMIM:614643
HP:0001320	Cerebellar vermis hypoplasia	10329	RXYLT1	ORPHA:899
HP:0001320	Cerebellar vermis hypoplasia	11041	B4GAT1	ORPHA:899
HP:0001320	Cerebellar vermis hypoplasia	11041	B4GAT1	OMIM:615287
HP:0001320	Cerebellar vermis hypoplasia	84197	POMK	ORPHA:899
HP:0001320	Cerebellar vermis hypoplasia	55624	POMGNT1	ORPHA:899
HP:0001320	Cerebellar vermis hypoplasia	79068	FTO	OMIM:612938
HP:0001320	Cerebellar vermis hypoplasia	57492	ARID1B	OMIM:135900
HP:0001320	Cerebellar vermis hypoplasia	57492	ARID1B	ORPHA:1465
HP:0001320	Cerebellar vermis hypoplasia	3899	AFF3	OMIM:619297
HP:0001320	Cerebellar vermis hypoplasia	25885	POLR1A	OMIM:616462
HP:0001320	Cerebellar vermis hypoplasia	6597	SMARCA4	ORPHA:1465
HP:0001320	Cerebellar vermis hypoplasia	6597	SMARCA4	OMIM:614609
HP:0001320	Cerebellar vermis hypoplasia	6598	SMARCB1	ORPHA:1465
HP:0001320	Cerebellar vermis hypoplasia	6598	SMARCB1	OMIM:614608
HP:0001320	Cerebellar vermis hypoplasia	6659	SOX4	ORPHA:1465
HP:0001320	Cerebellar vermis hypoplasia	8289	ARID1A	ORPHA:1465
HP:0001320	Cerebellar vermis hypoplasia	8289	ARID1A	OMIM:614607
HP:0001320	Cerebellar vermis hypoplasia	5977	DPF2	ORPHA:1465
HP:0001320	Cerebellar vermis hypoplasia	6601	SMARCC2	ORPHA:1465
HP:0001320	Cerebellar vermis hypoplasia	6602	SMARCD1	ORPHA:1465
HP:0001320	Cerebellar vermis hypoplasia	196528	ARID2	ORPHA:1465
HP:0001320	Cerebellar vermis hypoplasia	6605	SMARCE1	ORPHA:1465
HP:0001320	Cerebellar vermis hypoplasia	6605	SMARCE1	OMIM:616938
HP:0001320	Cerebellar vermis hypoplasia	6664	SOX11	ORPHA:1465
HP:0001320	Cerebellar vermis hypoplasia	27315	PGAP2	OMIM:614207
HP:0001320	Cerebellar vermis hypoplasia	157570	ESCO2	ORPHA:2319
HP:0001320	Cerebellar vermis hypoplasia	5340	PLG	ORPHA:722
HP:0001320	Cerebellar vermis hypoplasia	5340	PLG	OMIM:217090
HP:0001320	Cerebellar vermis hypoplasia	1717	DHCR7	OMIM:270400
HP:0001320	Cerebellar vermis hypoplasia	84314	TMEM107	ORPHA:564
HP:0001320	Cerebellar vermis hypoplasia	57096	RPGRIP1	ORPHA:564
HP:0001320	Cerebellar vermis hypoplasia	79770	TXNDC15	ORPHA:564
HP:0001320	Cerebellar vermis hypoplasia	27031	NPHP3	OMIM:267010
HP:0001320	Cerebellar vermis hypoplasia	27031	NPHP3	OMIM:208540
HP:0001320	Cerebellar vermis hypoplasia	27031	NPHP3	ORPHA:3032
HP:0001320	Cerebellar vermis hypoplasia	171023	ASXL1	ORPHA:97297
HP:0001320	Cerebellar vermis hypoplasia	171023	ASXL1	OMIM:605039
HP:0001320	Cerebellar vermis hypoplasia	9184	BUB3	ORPHA:1052
HP:0001320	Cerebellar vermis hypoplasia	699	BUB1	ORPHA:1052
HP:0001320	Cerebellar vermis hypoplasia	9702	CEP57	ORPHA:1052
HP:0001320	Cerebellar vermis hypoplasia	9319	TRIP13	ORPHA:1052
HP:0001320	Cerebellar vermis hypoplasia	701	BUB1B	ORPHA:1052
HP:0001320	Cerebellar vermis hypoplasia	701	BUB1B	OMIM:257300
HP:0001320	Cerebellar vermis hypoplasia	84342	COG8	OMIM:611182
HP:0001320	Cerebellar vermis hypoplasia	84188	FAR1	ORPHA:438178
HP:0001320	Cerebellar vermis hypoplasia	84188	FAR1	OMIM:616154
HP:0001320	Cerebellar vermis hypoplasia	2260	FGFR1	OMIM:613001
HP:0001320	Cerebellar vermis hypoplasia	124997	WDR81	OMIM:617967
HP:0001320	Cerebellar vermis hypoplasia	2683	B4GALT1	OMIM:607091
HP:0001320	Cerebellar vermis hypoplasia	2683	B4GALT1	ORPHA:79332
HP:0001320	Cerebellar vermis hypoplasia	26227	PHGDH	OMIM:256520
HP:0001320	Cerebellar vermis hypoplasia	55605	KIF21A	ORPHA:994
HP:0001320	Cerebellar vermis hypoplasia	4927	NUP88	ORPHA:994
HP:0001320	Cerebellar vermis hypoplasia	4654	MYOD1	ORPHA:994
HP:0001320	Cerebellar vermis hypoplasia	54551	MAGEL2	ORPHA:994
HP:0001320	Cerebellar vermis hypoplasia	4593	MUSK	ORPHA:994
HP:0001320	Cerebellar vermis hypoplasia	5913	RAPSN	ORPHA:994
HP:0001320	Cerebellar vermis hypoplasia	6572	SLC18A3	ORPHA:994
HP:0001320	Cerebellar vermis hypoplasia	285489	DOK7	ORPHA:994
HP:0001320	Cerebellar vermis hypoplasia	23126	POGZ	OMIM:616364
HP:0001320	Cerebellar vermis hypoplasia	7737	RNF113A	OMIM:300953
HP:0001320	Cerebellar vermis hypoplasia	998	CDC42	ORPHA:487796
HP:0001320	Cerebellar vermis hypoplasia	11128	POLR3A	OMIM:264090
HP:0001320	Cerebellar vermis hypoplasia	4534	MTM1	OMIM:310400
HP:0001320	Cerebellar vermis hypoplasia	526	ATP6V1B2	ORPHA:79500
HP:0001320	Cerebellar vermis hypoplasia	54880	BCOR	OMIM:300166
HP:0001320	Cerebellar vermis hypoplasia	55640	FLVCR2	OMIM:225790
HP:0001320	Cerebellar vermis hypoplasia	28952	CCDC22	OMIM:300963
HP:0001320	Cerebellar vermis hypoplasia	28952	CCDC22	ORPHA:7
HP:0001320	Cerebellar vermis hypoplasia	1654	DDX3X	ORPHA:3338
HP:0001320	Cerebellar vermis hypoplasia	5500	PPP1CB	OMIM:617506
HP:0001320	Cerebellar vermis hypoplasia	54676	GTPBP2	OMIM:617988
HP:0001320	Cerebellar vermis hypoplasia	63895	PIEZO2	OMIM:248700
HP:0001320	Cerebellar vermis hypoplasia	9897	WASHC5	OMIM:220210
HP:0001320	Cerebellar vermis hypoplasia	9897	WASHC5	ORPHA:7
HP:0001320	Cerebellar vermis hypoplasia	23007	PLCH1	OMIM:619895
HP:0001320	Cerebellar vermis hypoplasia	132884	EVC2	OMIM:225500
HP:0001320	Cerebellar vermis hypoplasia	2121	EVC	OMIM:225500
HP:0001320	Cerebellar vermis hypoplasia	523	ATP6V1A	ORPHA:357074
HP:0001320	Cerebellar vermis hypoplasia	529	ATP6V1E1	ORPHA:357074
HP:0001320	Cerebellar vermis hypoplasia	3798	KIF5A	OMIM:617235
HP:0001320	Cerebellar vermis hypoplasia	1028	CDKN1C	OMIM:130650
HP:0001320	Cerebellar vermis hypoplasia	3481	IGF2	OMIM:130650
HP:0001320	Cerebellar vermis hypoplasia	3784	KCNQ1	OMIM:130650
HP:0001320	Cerebellar vermis hypoplasia	10984	KCNQ1OT1	OMIM:130650
HP:0001320	Cerebellar vermis hypoplasia	10195	ALG3	ORPHA:79321
HP:0001320	Cerebellar vermis hypoplasia	27183	VPS4A	OMIM:619273
HP:0001320	Cerebellar vermis hypoplasia	10128	LRPPRC	OMIM:220111
HP:0001320	Cerebellar vermis hypoplasia	3912	LAMB1	OMIM:615191
HP:0001320	Cerebellar vermis hypoplasia	54892	NCAPG2	OMIM:618460
HP:0001320	Cerebellar vermis hypoplasia	60529	ALX4	OMIM:613451
HP:0001320	Cerebellar vermis hypoplasia	4750	NEK1	OMIM:263520
HP:0001320	Cerebellar vermis hypoplasia	23241	PACS2	OMIM:618067
HP:0001320	Cerebellar vermis hypoplasia	100151683	RNU4ATAC	OMIM:210710
HP:0001320	Cerebellar vermis hypoplasia	26160	IFT172	OMIM:615630
HP:0001320	Cerebellar vermis hypoplasia	6091	ROBO1	OMIM:620305
HP:0001320	Cerebellar vermis hypoplasia	2355	FOSL2	OMIM:620789
HP:0001320	Cerebellar vermis hypoplasia	65062	TMEM237	OMIM:614424
HP:0001320	Cerebellar vermis hypoplasia	65062	TMEM237	ORPHA:220497
HP:0001320	Cerebellar vermis hypoplasia	65062	TMEM237	ORPHA:2318
HP:0001320	Cerebellar vermis hypoplasia	65062	TMEM237	ORPHA:475
HP:0001320	Cerebellar vermis hypoplasia	51117	COQ4	OMIM:620666
HP:0001320	Cerebellar vermis hypoplasia	55733	HHAT	OMIM:600092
HP:0001320	Cerebellar vermis hypoplasia	56623	INPP5E	OMIM:213300
HP:0001320	Cerebellar vermis hypoplasia	56623	INPP5E	ORPHA:220493
HP:0001320	Cerebellar vermis hypoplasia	56623	INPP5E	ORPHA:1454
HP:0001320	Cerebellar vermis hypoplasia	56623	INPP5E	ORPHA:475
HP:0001320	Cerebellar vermis hypoplasia	84320	ACBD6	OMIM:620785
HP:0001320	Cerebellar vermis hypoplasia	8496	PPFIBP1	OMIM:620024
HP:0001320	Cerebellar vermis hypoplasia	1605	DAG1	ORPHA:370997
HP:0001320	Cerebellar vermis hypoplasia	1605	DAG1	OMIM:616538
HP:0001320	Cerebellar vermis hypoplasia	4867	NPHP1	OMIM:609583
HP:0001320	Cerebellar vermis hypoplasia	4867	NPHP1	ORPHA:220497
HP:0001320	Cerebellar vermis hypoplasia	64324	NSD1	ORPHA:821
HP:0001320	Cerebellar vermis hypoplasia	10297	APC2	ORPHA:821
HP:0001320	Cerebellar vermis hypoplasia	91147	TMEM67	OMIM:216360
HP:0001320	Cerebellar vermis hypoplasia	91147	TMEM67	ORPHA:1454
HP:0001320	Cerebellar vermis hypoplasia	91147	TMEM67	ORPHA:475
HP:0001320	Cerebellar vermis hypoplasia	91147	TMEM67	OMIM:610688
HP:0001320	Cerebellar vermis hypoplasia	79848	CSPP1	ORPHA:397715
HP:0001320	Cerebellar vermis hypoplasia	79848	CSPP1	ORPHA:475
HP:0001320	Cerebellar vermis hypoplasia	9786	KIAA0586	ORPHA:397715
HP:0001320	Cerebellar vermis hypoplasia	9786	KIAA0586	ORPHA:475
HP:0001320	Cerebellar vermis hypoplasia	9786	KIAA0586	OMIM:616546
HP:0001320	Cerebellar vermis hypoplasia	128869	PIGU	OMIM:618590
HP:0001320	Cerebellar vermis hypoplasia	4983	OPHN1	OMIM:300486
HP:0001320	Cerebellar vermis hypoplasia	4281	MID1	OMIM:300000
HP:0001320	Cerebellar vermis hypoplasia	9578	CDC42BPB	OMIM:619841
HP:0001320	Cerebellar vermis hypoplasia	3020	H3-3A	OMIM:619720
HP:0001320	Cerebellar vermis hypoplasia	219854	TMEM218	OMIM:619562
HP:0001320	Cerebellar vermis hypoplasia	219854	TMEM218	ORPHA:475
HP:0001320	Cerebellar vermis hypoplasia	473	RERE	OMIM:616975
HP:0001320	Cerebellar vermis hypoplasia	473	RERE	ORPHA:494344
HP:0001320	Cerebellar vermis hypoplasia	23322	RPGRIP1L	ORPHA:220497
HP:0001320	Cerebellar vermis hypoplasia	23322	RPGRIP1L	ORPHA:1454
HP:0001320	Cerebellar vermis hypoplasia	7280	TUBB2A	OMIM:615763
HP:0001320	Cerebellar vermis hypoplasia	79644	SRD5A3	OMIM:612379
HP:0001320	Cerebellar vermis hypoplasia	54806	AHI1	ORPHA:220493
HP:0001320	Cerebellar vermis hypoplasia	54806	AHI1	OMIM:608629
HP:0001320	Cerebellar vermis hypoplasia	54806	AHI1	ORPHA:475
HP:0001320	Cerebellar vermis hypoplasia	153241	CEP120	ORPHA:220493
HP:0001320	Cerebellar vermis hypoplasia	153241	CEP120	ORPHA:475
HP:0001320	Cerebellar vermis hypoplasia	54903	MKS1	ORPHA:220493
HP:0001320	Cerebellar vermis hypoplasia	54903	MKS1	ORPHA:475
HP:0001320	Cerebellar vermis hypoplasia	95681	CEP41	ORPHA:220493
HP:0001320	Cerebellar vermis hypoplasia	95681	CEP41	ORPHA:475
HP:0001320	Cerebellar vermis hypoplasia	29968	PSAT1	OMIM:610992
HP:0001320	Cerebellar vermis hypoplasia	29968	PSAT1	ORPHA:284417
HP:0001320	Cerebellar vermis hypoplasia	10501	SEMA6B	OMIM:618876
HP:0001320	Cerebellar vermis hypoplasia	80055	PGAP1	OMIM:615802
HP:0001320	Cerebellar vermis hypoplasia	57082	KNL1	OMIM:604321
HP:0001320	Cerebellar vermis hypoplasia	7846	TUBA1A	OMIM:611603
HP:0001320	Cerebellar vermis hypoplasia	7846	TUBA1A	ORPHA:467166
HP:0001320	Cerebellar vermis hypoplasia	7846	TUBA1A	ORPHA:171680
HP:0001320	Cerebellar vermis hypoplasia	9382	COG1	OMIM:611209
HP:0001320	Cerebellar vermis hypoplasia	9382	COG1	ORPHA:263508
HP:0001320	Cerebellar vermis hypoplasia	29925	GMPPB	ORPHA:370968
HP:0001320	Cerebellar vermis hypoplasia	79147	FKRP	ORPHA:370968
HP:0001320	Cerebellar vermis hypoplasia	29954	POMT2	ORPHA:370968
HP:0001320	Cerebellar vermis hypoplasia	29954	POMT2	OMIM:613156
HP:0001320	Cerebellar vermis hypoplasia	9215	LARGE1	ORPHA:370968
HP:0001320	Cerebellar vermis hypoplasia	10585	POMT1	ORPHA:370968
HP:0001320	Cerebellar vermis hypoplasia	10585	POMT1	OMIM:613155
HP:0001320	Cerebellar vermis hypoplasia	55777	MBD5	OMIM:156200
HP:0001320	Cerebellar vermis hypoplasia	347733	TUBB2B	ORPHA:467166
HP:0001320	Cerebellar vermis hypoplasia	347733	TUBB2B	OMIM:610031
HP:0001320	Cerebellar vermis hypoplasia	10381	TUBB3	ORPHA:467166
HP:0001320	Cerebellar vermis hypoplasia	10381	TUBB3	ORPHA:300570
HP:0001320	Cerebellar vermis hypoplasia	22930	RAB3GAP1	OMIM:600118
HP:0001320	Cerebellar vermis hypoplasia	22930	RAB3GAP1	ORPHA:2510
HP:0001320	Cerebellar vermis hypoplasia	203068	TUBB	OMIM:615771
HP:0001320	Cerebellar vermis hypoplasia	23545	ATP6V0A2	ORPHA:2834
HP:0001320	Cerebellar vermis hypoplasia	1778	DYNC1H1	OMIM:614563
HP:0001320	Cerebellar vermis hypoplasia	23090	ZNF423	OMIM:614844
HP:0001320	Cerebellar vermis hypoplasia	23090	ZNF423	ORPHA:2318
HP:0001320	Cerebellar vermis hypoplasia	1801	DPH1	OMIM:616901
HP:0001320	Cerebellar vermis hypoplasia	1801	DPH1	ORPHA:459061
HP:0001320	Cerebellar vermis hypoplasia	80746	TSEN2	OMIM:612389
HP:0001320	Cerebellar vermis hypoplasia	80746	TSEN2	ORPHA:2524
HP:0001320	Cerebellar vermis hypoplasia	22897	CEP164	OMIM:614845
HP:0001320	Cerebellar vermis hypoplasia	54974	THG1L	OMIM:618800
HP:0001320	Cerebellar vermis hypoplasia	93627	TBCK	OMIM:616900
HP:0001320	Cerebellar vermis hypoplasia	1063	CENPF	OMIM:243605
HP:0001320	Cerebellar vermis hypoplasia	79583	TMEM231	ORPHA:2318
HP:0001320	Cerebellar vermis hypoplasia	79583	TMEM231	ORPHA:2754
HP:0001320	Cerebellar vermis hypoplasia	51524	TMEM138	ORPHA:2318
HP:0001320	Cerebellar vermis hypoplasia	80184	CEP290	ORPHA:2318
HP:0001320	Cerebellar vermis hypoplasia	51259	TMEM216	ORPHA:2318
HP:0001320	Cerebellar vermis hypoplasia	51259	TMEM216	ORPHA:2754
HP:0001320	Cerebellar vermis hypoplasia	57545	CC2D2A	ORPHA:2318
HP:0001320	Cerebellar vermis hypoplasia	57545	CC2D2A	ORPHA:1454
HP:0001320	Cerebellar vermis hypoplasia	57545	CC2D2A	OMIM:619111
HP:0001320	Cerebellar vermis hypoplasia	23116	TOGARAM1	OMIM:619185
HP:0001320	Cerebellar vermis hypoplasia	23116	TOGARAM1	ORPHA:475
HP:0001320	Cerebellar vermis hypoplasia	7703	PCGF2	OMIM:618371
HP:0001320	Cerebellar vermis hypoplasia	80856	LNPK	OMIM:618090
HP:0001320	Cerebellar vermis hypoplasia	23258	DENND5A	OMIM:617281
HP:0001320	Cerebellar vermis hypoplasia	26278	SACS	ORPHA:98
HP:0001320	Cerebellar vermis hypoplasia	9839	ZEB2	ORPHA:261552
HP:0001320	Cerebellar vermis hypoplasia	9839	ZEB2	ORPHA:261537
HP:0001320	Cerebellar vermis hypoplasia	79600	TCTN1	OMIM:614173
HP:0001320	Cerebellar vermis hypoplasia	79600	TCTN1	ORPHA:475
HP:0001320	Cerebellar vermis hypoplasia	79042	TSEN34	OMIM:612390
HP:0001320	Cerebellar vermis hypoplasia	79042	TSEN34	ORPHA:2524
HP:0001320	Cerebellar vermis hypoplasia	127833	SYT2	OMIM:619461
HP:0001320	Cerebellar vermis hypoplasia	1822	ATN1	OMIM:618494
HP:0001320	Cerebellar vermis hypoplasia	8550	MAPKAPK5	OMIM:619869
HP:0001320	Cerebellar vermis hypoplasia	545	ATR	OMIM:210600
HP:0001320	Cerebellar vermis hypoplasia	10352	WARS2	ORPHA:572798
HP:0001320	Cerebellar vermis hypoplasia	26005	C2CD3	OMIM:615948
HP:0001320	Cerebellar vermis hypoplasia	1974	EIF4A2	OMIM:620455
HP:0001320	Cerebellar vermis hypoplasia	492	ATP2B3	ORPHA:314978
HP:0001320	Cerebellar vermis hypoplasia	60386	SLC25A19	ORPHA:99742
HP:0001320	Cerebellar vermis hypoplasia	60386	SLC25A19	OMIM:607196
HP:0001320	Cerebellar vermis hypoplasia	6874	TAF4	OMIM:620450
HP:0001320	Cerebellar vermis hypoplasia	5373	PMM2	OMIM:212065
HP:0001320	Cerebellar vermis hypoplasia	5373	PMM2	ORPHA:79318
HP:0001320	Cerebellar vermis hypoplasia	64864	RFX7	OMIM:620330
HP:0001320	Cerebellar vermis hypoplasia	2296	FOXC1	OMIM:602482
HP:0001320	Cerebellar vermis hypoplasia	2296	FOXC1	OMIM:601631
HP:0001320	Cerebellar vermis hypoplasia	8241	RBM10	OMIM:311900
HP:0001320	Cerebellar vermis hypoplasia	59336	PRDM13	OMIM:619909
HP:0001320	Cerebellar vermis hypoplasia	9851	KIAA0753	ORPHA:475
HP:0001320	Cerebellar vermis hypoplasia	9851	KIAA0753	OMIM:619476
HP:0001320	Cerebellar vermis hypoplasia	9851	KIAA0753	ORPHA:2754
HP:0001320	Cerebellar vermis hypoplasia	9851	KIAA0753	OMIM:617127
HP:0001320	Cerebellar vermis hypoplasia	5147	PDE6D	ORPHA:475
HP:0001320	Cerebellar vermis hypoplasia	5147	PDE6D	ORPHA:2754
HP:0001320	Cerebellar vermis hypoplasia	8481	OFD1	ORPHA:475
HP:0001320	Cerebellar vermis hypoplasia	8481	OFD1	OMIM:300804
HP:0001320	Cerebellar vermis hypoplasia	8481	OFD1	ORPHA:2754
HP:0001320	Cerebellar vermis hypoplasia	51684	SUFU	ORPHA:475
HP:0001320	Cerebellar vermis hypoplasia	65250	CPLANE1	ORPHA:475
HP:0001320	Cerebellar vermis hypoplasia	65250	CPLANE1	OMIM:277170
HP:0001320	Cerebellar vermis hypoplasia	65250	CPLANE1	ORPHA:2754
HP:0001320	Cerebellar vermis hypoplasia	200894	ARL13B	ORPHA:475
HP:0001320	Cerebellar vermis hypoplasia	9731	CEP104	ORPHA:475
HP:0001320	Cerebellar vermis hypoplasia	219844	HYLS1	ORPHA:475
HP:0001320	Cerebellar vermis hypoplasia	23247	KATNIP	ORPHA:475
HP:0001320	Cerebellar vermis hypoplasia	23247	KATNIP	OMIM:616784
HP:0001320	Cerebellar vermis hypoplasia	26123	TCTN3	ORPHA:475
HP:0001320	Cerebellar vermis hypoplasia	26123	TCTN3	ORPHA:2754
HP:0001320	Cerebellar vermis hypoplasia	79867	TCTN2	ORPHA:475
HP:0001320	Cerebellar vermis hypoplasia	80776	B9D2	ORPHA:475
HP:0001320	Cerebellar vermis hypoplasia	10464	PIBF1	ORPHA:475
HP:0001320	Cerebellar vermis hypoplasia	80210	ARMC9	ORPHA:475
HP:0001320	Cerebellar vermis hypoplasia	25776	CBY1	ORPHA:475
HP:0001320	Cerebellar vermis hypoplasia	27077	B9D1	ORPHA:475
HP:0001320	Cerebellar vermis hypoplasia	403	ARL3	ORPHA:475
HP:0001320	Cerebellar vermis hypoplasia	403	ARL3	OMIM:618161
HP:0001320	Cerebellar vermis hypoplasia	80173	IFT74	ORPHA:475
HP:0001320	Cerebellar vermis hypoplasia	10804	GJB6	ORPHA:477
HP:0001320	Cerebellar vermis hypoplasia	2706	GJB2	ORPHA:477
HP:0001320	Cerebellar vermis hypoplasia	2615	LRRC32	OMIM:619074
HP:0001320	Cerebellar vermis hypoplasia	4352	MPL	OMIM:604498
HP:0001320	Cerebellar vermis hypoplasia	11340	EXOSC8	OMIM:616081
HP:0001320	Cerebellar vermis hypoplasia	253738	EBF3	OMIM:617330
HP:0001320	Cerebellar vermis hypoplasia	57187	THOC2	OMIM:300957
HP:0001320	Cerebellar vermis hypoplasia	2892	GRIA3	ORPHA:364028
HP:0001320	Cerebellar vermis hypoplasia	56006	SMG9	OMIM:616920
HP:0001320	Cerebellar vermis hypoplasia	163786	SASS6	OMIM:616402
HP:0001320	Cerebellar vermis hypoplasia	55280	CWF19L1	OMIM:616127
HP:0001320	Cerebellar vermis hypoplasia	55280	CWF19L1	ORPHA:453521
HP:0001320	Cerebellar vermis hypoplasia	29957	SLC25A24	OMIM:612289
HP:0001320	Cerebellar vermis hypoplasia	4361	MRE11	ORPHA:251347
HP:0001320	Cerebellar vermis hypoplasia	8239	USP9X	ORPHA:480880
HP:0001320	Cerebellar vermis hypoplasia	51692	CPSF3	OMIM:619876
HP:0001320	Cerebellar vermis hypoplasia	9289	ADGRG1	ORPHA:98889
HP:0001320	Cerebellar vermis hypoplasia	9289	ADGRG1	ORPHA:101070
HP:0001320	Cerebellar vermis hypoplasia	5297	PI4KA	ORPHA:98889
HP:0001320	Cerebellar vermis hypoplasia	5297	PI4KA	OMIM:616531
HP:0001320	Cerebellar vermis hypoplasia	27286	SRPX2	ORPHA:98889
HP:0001320	Cerebellar vermis hypoplasia	5728	PTEN	ORPHA:101070
HP:0001320	Cerebellar vermis hypoplasia	10236	HNRNPR	OMIM:620073
HP:0001320	Cerebellar vermis hypoplasia	51611	DPH5	OMIM:620070
HP:0001320	Cerebellar vermis hypoplasia	6872	TAF1	OMIM:300966
HP:0001320	Cerebellar vermis hypoplasia	22983	MAST1	OMIM:618273
HP:0001320	Cerebellar vermis hypoplasia	2232	FDXR	ORPHA:543470
HP:0001320	Cerebellar vermis hypoplasia	90416	CCDC32	OMIM:619123
HP:0001320	Cerebellar vermis hypoplasia	283989	TSEN54	ORPHA:2524
HP:0001320	Cerebellar vermis hypoplasia	116461	TSEN15	ORPHA:2524
HP:0001320	Cerebellar vermis hypoplasia	51091	SEPSECS	ORPHA:2524
HP:0001320	Cerebellar vermis hypoplasia	6121	RPE65	OMIM:204100
HP:0001320	Cerebellar vermis hypoplasia	284217	LAMA1	OMIM:615960
HP:0001320	Cerebellar vermis hypoplasia	5591	PRKDC	OMIM:615966
HP:0001320	Cerebellar vermis hypoplasia	3708	ITPR1	OMIM:117360
HP:0001320	Cerebellar vermis hypoplasia	57038	RARS2	OMIM:611523
HP:0001320	Cerebellar vermis hypoplasia	54499	TMCO1	ORPHA:1394
HP:0001320	Cerebellar vermis hypoplasia	79971	WLS	OMIM:619648
HP:0001320	Cerebellar vermis hypoplasia	79633	FAT4	ORPHA:314679
HP:0001320	Cerebellar vermis hypoplasia	8642	DCHS1	ORPHA:314679
HP:0001320	Cerebellar vermis hypoplasia	55691	FRMD4A	OMIM:616819
HP:0001320	Cerebellar vermis hypoplasia	55691	FRMD4A	ORPHA:466688
HP:0001320	Cerebellar vermis hypoplasia	3187	HNRNPH1	OMIM:620083
HP:0001320	Cerebellar vermis hypoplasia	57724	EPG5	OMIM:242840
HP:0001320	Cerebellar vermis hypoplasia	57020	VPS35L	OMIM:619135
HP:0001320	Cerebellar vermis hypoplasia	4081	MAB21L1	ORPHA:495875
HP:0001320	Cerebellar vermis hypoplasia	4123	MAN2C1	OMIM:619775
HP:0001320	Cerebellar vermis hypoplasia	5879	RAC1	OMIM:617751
HP:0001320	Cerebellar vermis hypoplasia	440	ASNS	OMIM:615574
HP:0001320	Cerebellar vermis hypoplasia	26047	CNTNAP2	OMIM:610042
HP:0001320	Cerebellar vermis hypoplasia	738	VPS51	OMIM:618606
HP:0001320	Cerebellar vermis hypoplasia	23499	MACF1	OMIM:618325
HP:0001320	Cerebellar vermis hypoplasia	2806	GOT2	OMIM:618721
HP:0001320	Cerebellar vermis hypoplasia	79645	CLXN	OMIM:620642
HP:0001320	Cerebellar vermis hypoplasia	3954	LETM1	OMIM:620089
HP:0001320	Cerebellar vermis hypoplasia	84081	NSRP1	OMIM:620001
HP:0001320	Cerebellar vermis hypoplasia	5048	PAFAH1B1	ORPHA:95232
HP:0001320	Cerebellar vermis hypoplasia	9939	RBM8A	OMIM:274000
HP:0001320	Cerebellar vermis hypoplasia	25782	RAB3GAP2	ORPHA:2510
HP:0001320	Cerebellar vermis hypoplasia	22931	RAB18	ORPHA:2510
HP:0001320	Cerebellar vermis hypoplasia	128637	TBC1D20	ORPHA:2510
HP:0001320	Cerebellar vermis hypoplasia	10079	ATP9A	OMIM:620242
HP:0001320	Cerebellar vermis hypoplasia	1376	CPT2	ORPHA:228308
HP:0001320	Cerebellar vermis hypoplasia	10210	TOPORS	ORPHA:2754
HP:0001320	Cerebellar vermis hypoplasia	317662	FAM149B1	ORPHA:2754
HP:0001320	Cerebellar vermis hypoplasia	374654	KIF7	ORPHA:2754
HP:0001320	Cerebellar vermis hypoplasia	9896	FIG4	OMIM:216340
HP:0001320	Cerebellar vermis hypoplasia	23299	BICD2	OMIM:618291
HP:0001320	Cerebellar vermis hypoplasia	129285	PPP1R21	OMIM:619383
HP:0001320	Cerebellar vermis hypoplasia	79023	NUP37	OMIM:618179
HP:0001320	Cerebellar vermis hypoplasia	8295	TRRAP	OMIM:618454
HP:0001320	Cerebellar vermis hypoplasia	9181	ARHGEF2	OMIM:617523
HP:0001320	Cerebellar vermis hypoplasia	221078	NSUN6	OMIM:620779
HP:0001320	Cerebellar vermis hypoplasia	2719	GPC3	OMIM:312870
HP:0001320	Cerebellar vermis hypoplasia	2239	GPC4	OMIM:312870
HP:0001320	Cerebellar vermis hypoplasia	5908	RAP1B	OMIM:620654
HP:0001320	Cerebellar vermis hypoplasia	55770	EXOC2	OMIM:619306
HP:0001320	Cerebellar vermis hypoplasia	9230	RAB11B	OMIM:617807
HP:0001320	Cerebellar vermis hypoplasia	8905	AP1S2	OMIM:304340
HP:0001320	Cerebellar vermis hypoplasia	1802	DPH2	ORPHA:459061
HP:0001320	Cerebellar vermis hypoplasia	80816	ASXL3	ORPHA:352577
HP:0001320	Cerebellar vermis hypoplasia	3897	L1CAM	OMIM:304100
HP:0001320	Cerebellar vermis hypoplasia	2972	BRF1	ORPHA:444072
HP:0001320	Cerebellar vermis hypoplasia	652	BMP4	OMIM:607932
HP:0001320	Cerebellar vermis hypoplasia	652	BMP4	ORPHA:139471
HP:0001320	Cerebellar vermis hypoplasia	83696	TRAPPC9	OMIM:613192
HP:0001320	Cerebellar vermis hypoplasia	26173	INTS1	OMIM:618571
HP:0001320	Cerebellar vermis hypoplasia	4190	MDH1	OMIM:618959
HP:0001320	Cerebellar vermis hypoplasia	7436	VLDLR	OMIM:224050
HP:0001320	Cerebellar vermis hypoplasia	50628	GEMIN4	OMIM:617913
HP:0001320	Cerebellar vermis hypoplasia	400569	MED11	OMIM:620327
HP:0001320	Cerebellar vermis hypoplasia	2911	GRM1	OMIM:614831
HP:0006872	Cerebral hypoplasia	114803	MYSM1	ORPHA:508542
HP:0006872	Cerebral hypoplasia	80347	COASY	OMIM:618266
HP:0006872	Cerebral hypoplasia	54903	MKS1	OMIM:249000
HP:0006872	Cerebral hypoplasia	476	ATP1A1	ORPHA:564178
HP:0006872	Cerebral hypoplasia	55733	HHAT	ORPHA:1422
HP:0006872	Cerebral hypoplasia	100151683	RNU4ATAC	OMIM:210710
HP:0006872	Cerebral hypoplasia	9928	KIF14	OMIM:616258
HP:0006872	Cerebral hypoplasia	56270	WDR45B	OMIM:617977
HP:0006872	Cerebral hypoplasia	3295	HSD17B4	OMIM:261515
HP:0006872	Cerebral hypoplasia	26227	PHGDH	ORPHA:79351
HP:0006872	Cerebral hypoplasia	25914	RTTN	ORPHA:468631
HP:0006872	Cerebral hypoplasia	701	BUB1B	OMIM:257300
HP:0006872	Cerebral hypoplasia	9896	FIG4	OMIM:216340
HP:0006872	Cerebral hypoplasia	9896	FIG4	ORPHA:3472
HP:0006872	Cerebral hypoplasia	1717	DHCR7	OMIM:270400
HP:0006872	Cerebral hypoplasia	55777	MBD5	OMIM:156200
HP:0006872	Cerebral hypoplasia	55697	VAC14	ORPHA:3472
HP:0006872	Cerebral hypoplasia	2232	FDXR	ORPHA:543470
HP:0006872	Cerebral hypoplasia	23229	ARHGEF9	ORPHA:163985
HP:0006872	Cerebral hypoplasia	23229	ARHGEF9	OMIM:300607
HP:0006872	Cerebral hypoplasia	2290	FOXG1	OMIM:613454
HP:0006872	Cerebral hypoplasia	673	BRAF	OMIM:115150
HP:0006872	Cerebral hypoplasia	8813	DPM1	ORPHA:79322
HP:0006872	Cerebral hypoplasia	55343	SLC35C1	ORPHA:99843
HP:0006872	Cerebral hypoplasia	9276	COPB2	ORPHA:2512
HP:0006872	Cerebral hypoplasia	11113	CIT	ORPHA:2512
HP:0006872	Cerebral hypoplasia	22995	CEP152	ORPHA:2512
HP:0006872	Cerebral hypoplasia	284403	WDR62	ORPHA:2512
HP:0006872	Cerebral hypoplasia	55262	TRAPPC14	ORPHA:2512
HP:0006872	Cerebral hypoplasia	163786	SASS6	ORPHA:2512
HP:0006872	Cerebral hypoplasia	29920	PYCR2	ORPHA:2512
HP:0006872	Cerebral hypoplasia	84879	MFSD2A	ORPHA:2512
HP:0006872	Cerebral hypoplasia	4176	MCM7	ORPHA:2512
HP:0006872	Cerebral hypoplasia	80254	CEP63	ORPHA:2512
HP:0006872	Cerebral hypoplasia	29081	METTL5	ORPHA:2512
HP:0006872	Cerebral hypoplasia	79023	NUP37	ORPHA:2512
HP:0006872	Cerebral hypoplasia	23310	NCAPD3	ORPHA:2512
HP:0006872	Cerebral hypoplasia	6301	SARS1	ORPHA:2512
HP:0006872	Cerebral hypoplasia	55755	CDK5RAP2	ORPHA:2512
HP:0006872	Cerebral hypoplasia	79648	MCPH1	ORPHA:2512
HP:0006872	Cerebral hypoplasia	6491	STIL	ORPHA:2512
HP:0006872	Cerebral hypoplasia	23141	ANKLE2	ORPHA:2512
HP:0006872	Cerebral hypoplasia	259266	ASPM	ORPHA:2512
HP:0006872	Cerebral hypoplasia	7109	TRAPPC10	ORPHA:2512
HP:0006872	Cerebral hypoplasia	7453	WARS1	ORPHA:2512
HP:0006872	Cerebral hypoplasia	1911	PHC1	ORPHA:2512
HP:0006872	Cerebral hypoplasia	1062	CENPE	ORPHA:2512
HP:0006872	Cerebral hypoplasia	6884	TAF13	ORPHA:2512
HP:0006872	Cerebral hypoplasia	9662	CEP135	ORPHA:2512
HP:0006872	Cerebral hypoplasia	57082	KNL1	ORPHA:2512
HP:0006872	Cerebral hypoplasia	1021	CDK6	ORPHA:2512
HP:0006872	Cerebral hypoplasia	2271	FH	OMIM:606812
HP:0006872	Cerebral hypoplasia	2639	GCDH	ORPHA:25
HP:0006872	Cerebral hypoplasia	79848	CSPP1	ORPHA:397715
HP:0006872	Cerebral hypoplasia	9786	KIAA0586	ORPHA:397715
HP:0006872	Cerebral hypoplasia	54805	CNNM2	OMIM:616418
HP:0006872	Cerebral hypoplasia	26005	C2CD3	ORPHA:434179
HP:0001325	Hypoglycemic coma	3158	HMGCS2	OMIM:605911
HP:0001325	Hypoglycemic coma	3767	KCNJ11	ORPHA:276580
HP:0001325	Hypoglycemic coma	2645	GCK	OMIM:602485
HP:0001325	Hypoglycemic coma	56246	MRAP	ORPHA:361
HP:0001325	Hypoglycemic coma	6770	STAR	ORPHA:361
HP:0001325	Hypoglycemic coma	4158	MC2R	ORPHA:361
HP:0001325	Hypoglycemic coma	23530	NNT	ORPHA:361
HP:0001325	Hypoglycemic coma	23530	NNT	OMIM:614736
HP:0001325	Hypoglycemic coma	10587	TXNRD2	ORPHA:361
HP:0001325	Hypoglycemic coma	3155	HMGCL	ORPHA:20
HP:0001325	Hypoglycemic coma	3643	INSR	OMIM:609968
HP:0001325	Hypoglycemic coma	4791	NFKB2	ORPHA:293978
HP:0001325	Hypoglycemic coma	6927	HNF1A	ORPHA:324575
HP:0001325	Hypoglycemic coma	7351	UCP2	ORPHA:276556
HP:0001325	Hypoglycemic coma	208	AKT2	ORPHA:293964
HP:0001325	Hypoglycemic coma	3033	HADH	OMIM:609975
HP:0001325	Hypoglycemic coma	6833	ABCC8	OMIM:256450
HP:0001325	Hypoglycemic coma	6833	ABCC8	ORPHA:276575
HP:0001325	Hypoglycemic coma	2746	GLUD1	OMIM:606762
HP:0001325	Hypoglycemic coma	2110	ETFDH	OMIM:231680
HP:0001325	Hypoglycemic coma	2108	ETFA	OMIM:231680
HP:0001325	Hypoglycemic coma	2109	ETFB	OMIM:231680
HP:0001326	EEG with irregular generalized spike and wave complexes	401474	SAMD12	OMIM:601068
HP:0001326	EEG with irregular generalized spike and wave complexes	57465	TBC1D24	ORPHA:352596
HP:0001326	EEG with irregular generalized spike and wave complexes	56910	STARD7	OMIM:607876
HP:0001326	EEG with irregular generalized spike and wave complexes	27286	SRPX2	ORPHA:1945
HP:0001326	EEG with irregular generalized spike and wave complexes	2903	GRIN2A	ORPHA:1945
HP:0001326	EEG with irregular generalized spike and wave complexes	2566	GABRG2	ORPHA:1945
HP:0001326	EEG with irregular generalized spike and wave complexes	6513	SLC2A1	ORPHA:1942
HP:0001326	EEG with irregular generalized spike and wave complexes	8831	SYNGAP1	ORPHA:1942
HP:0001326	EEG with irregular generalized spike and wave complexes	1173	AP2M1	ORPHA:1942
HP:0001326	EEG with irregular generalized spike and wave complexes	6323	SCN1A	ORPHA:1942
HP:0001326	EEG with irregular generalized spike and wave complexes	340533	NEXMIF	ORPHA:1942
HP:0001326	EEG with irregular generalized spike and wave complexes	1106	CHD2	ORPHA:1942
HP:0001326	EEG with irregular generalized spike and wave complexes	6529	SLC6A1	ORPHA:1942
HP:0001327	Photosensitive myoclonic seizure	154881	KCTD7	ORPHA:263516
HP:0001327	Photosensitive myoclonic seizure	6335	SCN9A	ORPHA:33069
HP:0001327	Photosensitive myoclonic seizure	6326	SCN2A	ORPHA:33069
HP:0001327	Photosensitive myoclonic seizure	2554	GABRA1	ORPHA:33069
HP:0001327	Photosensitive myoclonic seizure	6323	SCN1A	ORPHA:33069
HP:0001327	Photosensitive myoclonic seizure	6324	SCN1B	ORPHA:33069
HP:0001327	Photosensitive myoclonic seizure	57526	PCDH19	ORPHA:33069
HP:0001327	Photosensitive myoclonic seizure	2566	GABRG2	ORPHA:33069
HP:0007791	Patchy atrophy of the retinal pigment epithelium	51109	RDH11	ORPHA:436245
HP:0007791	Patchy atrophy of the retinal pigment epithelium	79797	ZNF408	OMIM:616468
HP:0007791	Patchy atrophy of the retinal pigment epithelium	114902	C1QTNF5	ORPHA:67042
HP:0007792	Microsaccadic pursuit	339453	TMEM240	OMIM:607454
HP:0007793	Granular macular appearance	2202	EFEMP1	ORPHA:75376
HP:0007793	Granular macular appearance	3075	CFH	ORPHA:75376
HP:0007793	Granular macular appearance	3426	CFI	ORPHA:75376
HP:0007793	Granular macular appearance	8842	PROM1	OMIM:608051
HP:0007793	Granular macular appearance	9227	LRAT	ORPHA:364055
HP:0007793	Granular macular appearance	55812	SPATA7	ORPHA:364055
HP:0007793	Granular macular appearance	6121	RPE65	ORPHA:364055
HP:0007793	Granular macular appearance	167691	LCA5	ORPHA:364055
HP:0007793	Granular macular appearance	1121	CHM	OMIM:303100
HP:0007766	Optic disc hypoplasia	8820	HESX1	OMIM:182230
HP:0007766	Optic disc hypoplasia	57167	SALL4	ORPHA:233
HP:0007766	Optic disc hypoplasia	57167	SALL4	ORPHA:959
HP:0007766	Optic disc hypoplasia	57167	SALL4	OMIM:607323
HP:0007766	Optic disc hypoplasia	9935	MAFB	ORPHA:233
HP:0007766	Optic disc hypoplasia	1123	CHN1	ORPHA:233
HP:0007766	Optic disc hypoplasia	3192	HNRNPU	ORPHA:238769
HP:0007766	Optic disc hypoplasia	79644	SRD5A3	ORPHA:324737
HP:0007766	Optic disc hypoplasia	9342	SNAP29	OMIM:609528
HP:0007766	Optic disc hypoplasia	7025	NR2F1	ORPHA:401777
HP:0007766	Optic disc hypoplasia	324	APC	ORPHA:261584
HP:0007766	Optic disc hypoplasia	54802	TRIT1	OMIM:617873
HP:0007766	Optic disc hypoplasia	2187	FANCB	OMIM:300514
HP:0007766	Optic disc hypoplasia	55770	EXOC2	OMIM:619306
HP:0007766	Optic disc hypoplasia	5361	PLXNA1	OMIM:619955
HP:0007766	Optic disc hypoplasia	7855	FZD5	OMIM:620731
HP:0007766	Optic disc hypoplasia	23259	DDHD2	ORPHA:320380
HP:0007766	Optic disc hypoplasia	392255	GDF6	OMIM:613703
HP:0007766	Optic disc hypoplasia	9573	GDF3	OMIM:613703
HP:0007766	Optic disc hypoplasia	4784	NFIX	ORPHA:420179
HP:0007766	Optic disc hypoplasia	11128	POLR3A	ORPHA:3455
HP:0007766	Optic disc hypoplasia	415	ARSL	ORPHA:79345
HP:0007795	Anterior cortical cataract	5062	PAK2	OMIM:618458
HP:0007795	Anterior cortical cataract	80207	OPA3	ORPHA:67036
HP:0004582	Irregularity of vertebral bodies	8838	CCN6	ORPHA:1159
HP:0004582	Irregularity of vertebral bodies	25839	COG4	ORPHA:85172
HP:0004582	Irregularity of vertebral bodies	9382	COG1	ORPHA:263508
HP:0003301	Irregular vertebral endplates	1280	COL2A1	OMIM:271700
HP:0003301	Irregular vertebral endplates	1280	COL2A1	OMIM:609162
HP:0003301	Irregular vertebral endplates	1280	COL2A1	OMIM:604864
HP:0003301	Irregular vertebral endplates	1300	COL10A1	ORPHA:174
HP:0003301	Irregular vertebral endplates	1300	COL10A1	OMIM:156500
HP:0003301	Irregular vertebral endplates	3835	KIF22	OMIM:603546
HP:0003301	Irregular vertebral endplates	26137	ZBTB20	ORPHA:3042
HP:0003301	Irregular vertebral endplates	26137	ZBTB20	OMIM:259050
HP:0003301	Irregular vertebral endplates	54	ACP5	OMIM:607944
HP:0003301	Irregular vertebral endplates	84068	SLC10A7	OMIM:618363
HP:0003301	Irregular vertebral endplates	9469	CHST3	OMIM:143095
HP:0003301	Irregular vertebral endplates	10312	TCIRG1	ORPHA:1782
HP:0003301	Irregular vertebral endplates	55315	SLC29A3	ORPHA:1782
HP:0003301	Irregular vertebral endplates	8792	TNFRSF11A	ORPHA:1782
HP:0003301	Irregular vertebral endplates	54187	NANS	OMIM:610442
HP:0003301	Irregular vertebral endplates	92344	GORAB	OMIM:231070
HP:0003301	Irregular vertebral endplates	9060	PAPSS2	OMIM:612847
HP:0003301	Irregular vertebral endplates	25839	COG4	OMIM:618150
HP:0003301	Irregular vertebral endplates	8443	GNPAT	OMIM:222765
HP:0003301	Irregular vertebral endplates	9451	EIF2AK3	OMIM:226980
HP:0003301	Irregular vertebral endplates	100151683	RNU4ATAC	OMIM:616651
HP:0003301	Irregular vertebral endplates	23233	EXOC6B	OMIM:618395
HP:0003301	Irregular vertebral endplates	1311	COMP	OMIM:132400
HP:0003301	Irregular vertebral endplates	7543	ZFX	OMIM:301118
HP:0003301	Irregular vertebral endplates	91252	SLC39A13	OMIM:612350
HP:0003301	Irregular vertebral endplates	5144	PDE4D	ORPHA:439822
HP:0003301	Irregular vertebral endplates	8838	CCN6	ORPHA:1159
HP:0003301	Irregular vertebral endplates	1297	COL9A1	OMIM:614135
HP:0003301	Irregular vertebral endplates	1297	COL9A1	ORPHA:250984
HP:0003301	Irregular vertebral endplates	1298	COL9A2	ORPHA:250984
HP:0003301	Irregular vertebral endplates	1299	COL9A3	ORPHA:250984
HP:0003301	Irregular vertebral endplates	3417	IDH1	ORPHA:99646
HP:0003301	Irregular vertebral endplates	126792	B3GALT6	OMIM:271640
HP:0003301	Irregular vertebral endplates	6399	TRAPPC2	ORPHA:93284
HP:0003301	Irregular vertebral endplates	6399	TRAPPC2	OMIM:313400
HP:0003301	Irregular vertebral endplates	4322	MMP13	OMIM:602111
HP:0003301	Irregular vertebral endplates	11128	POLR3A	ORPHA:3455
HP:0003319	Abnormality of the cervical spine	1718	DHCR24	OMIM:602398
HP:0003319	Abnormality of the cervical spine	8036	SHOC2	OMIM:607721
HP:0003319	Abnormality of the cervical spine	11253	MAN1B1	ORPHA:397941
HP:0003319	Abnormality of the cervical spine	11253	MAN1B1	OMIM:614202
HP:0003319	Abnormality of the cervical spine	8367	H4C5	OMIM:619950
HP:0003319	Abnormality of the cervical spine	8216	LZTR1	OMIM:616564
HP:0003319	Abnormality of the cervical spine	8216	LZTR1	OMIM:605275
HP:0003319	Abnormality of the cervical spine	6016	RIT1	OMIM:615355
HP:0003319	Abnormality of the cervical spine	2972	BRF1	OMIM:616202
HP:0003319	Abnormality of the cervical spine	2972	BRF1	ORPHA:444072
HP:0003319	Abnormality of the cervical spine	9820	CUL7	ORPHA:2616
HP:0003319	Abnormality of the cervical spine	9820	CUL7	OMIM:273750
HP:0003319	Abnormality of the cervical spine	23363	OBSL1	ORPHA:2616
HP:0003319	Abnormality of the cervical spine	23363	OBSL1	OMIM:612921
HP:0003319	Abnormality of the cervical spine	83987	CCDC8	ORPHA:2616
HP:0003319	Abnormality of the cervical spine	83987	CCDC8	OMIM:614205
HP:0003319	Abnormality of the cervical spine	55627	SMPD4	OMIM:618622
HP:0003319	Abnormality of the cervical spine	10973	ASCC3	OMIM:620700
HP:0003319	Abnormality of the cervical spine	5361	PLXNA1	OMIM:619955
HP:0003319	Abnormality of the cervical spine	1836	SLC26A2	ORPHA:56304
HP:0003319	Abnormality of the cervical spine	1836	SLC26A2	OMIM:256050
HP:0003319	Abnormality of the cervical spine	1836	SLC26A2	ORPHA:93298
HP:0003319	Abnormality of the cervical spine	4125	MAN2B1	ORPHA:309282
HP:0003319	Abnormality of the cervical spine	6662	SOX9	ORPHA:140
HP:0003319	Abnormality of the cervical spine	51741	WWOX	OMIM:616211
HP:0003319	Abnormality of the cervical spine	1855	DVL1	OMIM:616331
HP:0003319	Abnormality of the cervical spine	1855	DVL1	OMIM:180700
HP:0003319	Abnormality of the cervical spine	1855	DVL1	ORPHA:3107
HP:0003319	Abnormality of the cervical spine	341640	FREM2	OMIM:617666
HP:0003319	Abnormality of the cervical spine	65082	VPS33A	OMIM:617303
HP:0003319	Abnormality of the cervical spine	65082	VPS33A	ORPHA:505248
HP:0003319	Abnormality of the cervical spine	526	ATP6V1B2	OMIM:616455
HP:0003319	Abnormality of the cervical spine	526	ATP6V1B2	ORPHA:3473
HP:0003319	Abnormality of the cervical spine	2201	FBN2	OMIM:121050
HP:0003319	Abnormality of the cervical spine	3764	KCNJ8	ORPHA:1517
HP:0003319	Abnormality of the cervical spine	10060	ABCC9	ORPHA:1517
HP:0003319	Abnormality of the cervical spine	10060	ABCC9	OMIM:239850
HP:0003319	Abnormality of the cervical spine	84572	GNPTG	OMIM:252605
HP:0003319	Abnormality of the cervical spine	6023	RMRP	ORPHA:175
HP:0003319	Abnormality of the cervical spine	6023	RMRP	OMIM:607095
HP:0003319	Abnormality of the cervical spine	83696	TRAPPC9	OMIM:613192
HP:0003319	Abnormality of the cervical spine	1020	CDK5	OMIM:616342
HP:0003319	Abnormality of the cervical spine	9469	CHST3	OMIM:143095
HP:0003319	Abnormality of the cervical spine	9469	CHST3	OMIM:245600
HP:0003319	Abnormality of the cervical spine	10606	PAICS	OMIM:619859
HP:0003319	Abnormality of the cervical spine	1292	COL6A2	OMIM:620727
HP:0003319	Abnormality of the cervical spine	1292	COL6A2	ORPHA:75840
HP:0003319	Abnormality of the cervical spine	4853	NOTCH2	OMIM:102500
HP:0003319	Abnormality of the cervical spine	4853	NOTCH2	ORPHA:955
HP:0003319	Abnormality of the cervical spine	55681	SCYL2	OMIM:618766
HP:0003319	Abnormality of the cervical spine	64359	NXN	ORPHA:1507
HP:0003319	Abnormality of the cervical spine	4920	ROR2	ORPHA:1507
HP:0003319	Abnormality of the cervical spine	4920	ROR2	OMIM:268310
HP:0003319	Abnormality of the cervical spine	3339	HSPG2	ORPHA:1865
HP:0003319	Abnormality of the cervical spine	3339	HSPG2	OMIM:255800
HP:0003319	Abnormality of the cervical spine	3339	HSPG2	ORPHA:800
HP:0003319	Abnormality of the cervical spine	2626	GATA4	ORPHA:251071
HP:0003319	Abnormality of the cervical spine	59341	TRPV4	OMIM:113500
HP:0003319	Abnormality of the cervical spine	59341	TRPV4	OMIM:168400
HP:0003319	Abnormality of the cervical spine	59341	TRPV4	OMIM:184095
HP:0003319	Abnormality of the cervical spine	59341	TRPV4	OMIM:184252
HP:0003319	Abnormality of the cervical spine	7020	TFAP2A	OMIM:113620
HP:0003319	Abnormality of the cervical spine	1501	CTNND2	ORPHA:281
HP:0003319	Abnormality of the cervical spine	9037	SEMA5A	ORPHA:281
HP:0003319	Abnormality of the cervical spine	1301	COL11A1	OMIM:228520
HP:0003319	Abnormality of the cervical spine	1301	COL11A1	ORPHA:2021
HP:0003319	Abnormality of the cervical spine	93627	TBCK	ORPHA:488632
HP:0003319	Abnormality of the cervical spine	93627	TBCK	OMIM:616900
HP:0003319	Abnormality of the cervical spine	200734	SPRED2	OMIM:619745
HP:0003319	Abnormality of the cervical spine	64132	XYLT2	ORPHA:85194
HP:0003319	Abnormality of the cervical spine	4929	NR4A2	ORPHA:1617
HP:0003319	Abnormality of the cervical spine	10716	TBR1	ORPHA:1617
HP:0003319	Abnormality of the cervical spine	26040	SETBP1	OMIM:269150
HP:0003319	Abnormality of the cervical spine	26040	SETBP1	ORPHA:798
HP:0003319	Abnormality of the cervical spine	26834	RNU4-2	OMIM:620851
HP:0003319	Abnormality of the cervical spine	4247	MGAT2	OMIM:212066
HP:0003319	Abnormality of the cervical spine	3476	IGBP1	ORPHA:52055
HP:0003319	Abnormality of the cervical spine	3476	IGBP1	OMIM:300472
HP:0003319	Abnormality of the cervical spine	57167	SALL4	ORPHA:233
HP:0003319	Abnormality of the cervical spine	9935	MAFB	ORPHA:233
HP:0003319	Abnormality of the cervical spine	1123	CHN1	ORPHA:233
HP:0003319	Abnormality of the cervical spine	1947	EFNB1	OMIM:304110
HP:0003319	Abnormality of the cervical spine	92482	BBIP1	ORPHA:110
HP:0003319	Abnormality of the cervical spine	80184	CEP290	ORPHA:110
HP:0003319	Abnormality of the cervical spine	11020	IFT27	ORPHA:110
HP:0003319	Abnormality of the cervical spine	582	BBS1	ORPHA:110
HP:0003319	Abnormality of the cervical spine	49855	SCAPER	ORPHA:110
HP:0003319	Abnormality of the cervical spine	4867	NPHP1	ORPHA:110
HP:0003319	Abnormality of the cervical spine	51057	WDPCP	ORPHA:110
HP:0003319	Abnormality of the cervical spine	132320	SCLT1	ORPHA:110
HP:0003319	Abnormality of the cervical spine	27241	BBS9	ORPHA:110
HP:0003319	Abnormality of the cervical spine	84984	CEP19	ORPHA:110
HP:0003319	Abnormality of the cervical spine	22954	TRIM32	ORPHA:110
HP:0003319	Abnormality of the cervical spine	54903	MKS1	ORPHA:110
HP:0003319	Abnormality of the cervical spine	54903	MKS1	OMIM:249000
HP:0003319	Abnormality of the cervical spine	79738	BBS10	ORPHA:110
HP:0003319	Abnormality of the cervical spine	123016	TTC8	ORPHA:110
HP:0003319	Abnormality of the cervical spine	26160	IFT172	ORPHA:110
HP:0003319	Abnormality of the cervical spine	583	BBS2	ORPHA:110
HP:0003319	Abnormality of the cervical spine	583	BBS2	OMIM:615981
HP:0003319	Abnormality of the cervical spine	585	BBS4	ORPHA:110
HP:0003319	Abnormality of the cervical spine	8195	MKKS	ORPHA:110
HP:0003319	Abnormality of the cervical spine	54585	LZTFL1	ORPHA:110
HP:0003319	Abnormality of the cervical spine	55212	BBS7	ORPHA:110
HP:0003319	Abnormality of the cervical spine	166379	BBS12	ORPHA:110
HP:0003319	Abnormality of the cervical spine	10806	SDCCAG8	ORPHA:110
HP:0003319	Abnormality of the cervical spine	157657	CFAP418	ORPHA:110
HP:0003319	Abnormality of the cervical spine	84100	ARL6	ORPHA:110
HP:0003319	Abnormality of the cervical spine	129880	BBS5	ORPHA:110
HP:0003319	Abnormality of the cervical spine	80173	IFT74	ORPHA:110
HP:0003319	Abnormality of the cervical spine	9895	TECPR2	OMIM:615031
HP:0003319	Abnormality of the cervical spine	9895	TECPR2	ORPHA:320385
HP:0003319	Abnormality of the cervical spine	63895	PIEZO2	OMIM:114300
HP:0003319	Abnormality of the cervical spine	63895	PIEZO2	OMIM:248700
HP:0003319	Abnormality of the cervical spine	23126	POGZ	OMIM:616364
HP:0003319	Abnormality of the cervical spine	23126	POGZ	ORPHA:468678
HP:0003319	Abnormality of the cervical spine	51633	OTUD6B	OMIM:617452
HP:0003319	Abnormality of the cervical spine	51633	OTUD6B	ORPHA:505237
HP:0003319	Abnormality of the cervical spine	3572	IL6ST	OMIM:619750
HP:0003319	Abnormality of the cervical spine	5048	PAFAH1B1	ORPHA:217385
HP:0003319	Abnormality of the cervical spine	7531	YWHAE	ORPHA:217385
HP:0003319	Abnormality of the cervical spine	5604	MAP2K1	OMIM:615279
HP:0003319	Abnormality of the cervical spine	5604	MAP2K1	ORPHA:1340
HP:0003319	Abnormality of the cervical spine	5604	MAP2K1	OMIM:163950
HP:0003319	Abnormality of the cervical spine	92609	TIMM50	OMIM:617698
HP:0003319	Abnormality of the cervical spine	79770	TXNDC15	OMIM:619879
HP:0003319	Abnormality of the cervical spine	2990	GUSB	ORPHA:584
HP:0003319	Abnormality of the cervical spine	2990	GUSB	OMIM:253220
HP:0003319	Abnormality of the cervical spine	2736	GLI2	OMIM:610829
HP:0003319	Abnormality of the cervical spine	79796	ALG9	ORPHA:79328
HP:0003319	Abnormality of the cervical spine	79796	ALG9	OMIM:608776
HP:0003319	Abnormality of the cervical spine	79796	ALG9	OMIM:263210
HP:0003319	Abnormality of the cervical spine	79718	TBL1XR1	OMIM:602342
HP:0003319	Abnormality of the cervical spine	79718	TBL1XR1	ORPHA:487825
HP:0003319	Abnormality of the cervical spine	8314	BAP1	OMIM:619762
HP:0003319	Abnormality of the cervical spine	50485	SMARCAL1	ORPHA:1830
HP:0003319	Abnormality of the cervical spine	50485	SMARCAL1	OMIM:242900
HP:0003319	Abnormality of the cervical spine	9968	MED12	OMIM:305450
HP:0003319	Abnormality of the cervical spine	79728	PALB2	OMIM:610832
HP:0003319	Abnormality of the cervical spine	6925	TCF4	OMIM:610954
HP:0003319	Abnormality of the cervical spine	6925	TCF4	ORPHA:2896
HP:0003319	Abnormality of the cervical spine	2316	FLNA	OMIM:304120
HP:0003319	Abnormality of the cervical spine	91949	COG7	ORPHA:79333
HP:0003319	Abnormality of the cervical spine	91949	COG7	OMIM:608779
HP:0003319	Abnormality of the cervical spine	6473	SHOX	ORPHA:314795
HP:0003319	Abnormality of the cervical spine	124583	CANT1	OMIM:251450
HP:0003319	Abnormality of the cervical spine	124583	CANT1	ORPHA:1425
HP:0003319	Abnormality of the cervical spine	56975	FAM20C	ORPHA:1832
HP:0003319	Abnormality of the cervical spine	56975	FAM20C	OMIM:259775
HP:0003319	Abnormality of the cervical spine	2556	GABRA3	OMIM:301091
HP:0003319	Abnormality of the cervical spine	4621	MYH3	OMIM:178110
HP:0003319	Abnormality of the cervical spine	4621	MYH3	OMIM:618469
HP:0003319	Abnormality of the cervical spine	4621	MYH3	OMIM:193700
HP:0003319	Abnormality of the cervical spine	4621	MYH3	ORPHA:1147
HP:0003319	Abnormality of the cervical spine	2239	GPC4	ORPHA:373
HP:0003319	Abnormality of the cervical spine	2719	GPC3	ORPHA:373
HP:0003319	Abnormality of the cervical spine	55120	FANCL	OMIM:614083
HP:0003319	Abnormality of the cervical spine	3423	IDS	OMIM:309900
HP:0003319	Abnormality of the cervical spine	259232	NALCN	OMIM:616266
HP:0003319	Abnormality of the cervical spine	259232	NALCN	ORPHA:562528
HP:0003319	Abnormality of the cervical spine	259232	NALCN	ORPHA:1147
HP:0003319	Abnormality of the cervical spine	259232	NALCN	ORPHA:371364
HP:0003319	Abnormality of the cervical spine	23483	TGDS	OMIM:616145
HP:0003319	Abnormality of the cervical spine	2260	FGFR1	OMIM:166250
HP:0003319	Abnormality of the cervical spine	25836	NIPBL	OMIM:122470
HP:0003319	Abnormality of the cervical spine	25836	NIPBL	ORPHA:199
HP:0003319	Abnormality of the cervical spine	2720	GLB1	OMIM:230500
HP:0003319	Abnormality of the cervical spine	7476	WNT7A	OMIM:276820
HP:0003319	Abnormality of the cervical spine	7476	WNT7A	ORPHA:2879
HP:0003319	Abnormality of the cervical spine	2778	GNAS	ORPHA:79443
HP:0003319	Abnormality of the cervical spine	2778	GNAS	ORPHA:79444
HP:0003319	Abnormality of the cervical spine	2778	GNAS	ORPHA:94089
HP:0003319	Abnormality of the cervical spine	2778	GNAS	OMIM:612463
HP:0003319	Abnormality of the cervical spine	2778	GNAS	OMIM:612462
HP:0003319	Abnormality of the cervical spine	2778	GNAS	OMIM:103580
HP:0003319	Abnormality of the cervical spine	1280	COL2A1	ORPHA:485
HP:0003319	Abnormality of the cervical spine	1280	COL2A1	ORPHA:94068
HP:0003319	Abnormality of the cervical spine	1280	COL2A1	OMIM:156550
HP:0003319	Abnormality of the cervical spine	1280	COL2A1	OMIM:183900
HP:0003319	Abnormality of the cervical spine	1280	COL2A1	OMIM:271700
HP:0003319	Abnormality of the cervical spine	1280	COL2A1	OMIM:151210
HP:0003319	Abnormality of the cervical spine	1280	COL2A1	ORPHA:93315
HP:0003319	Abnormality of the cervical spine	6138	RPL15	ORPHA:124
HP:0003319	Abnormality of the cervical spine	6224	RPS20	ORPHA:124
HP:0003319	Abnormality of the cervical spine	6165	RPL35A	ORPHA:124
HP:0003319	Abnormality of the cervical spine	6132	RPL8	ORPHA:124
HP:0003319	Abnormality of the cervical spine	6223	RPS19	ORPHA:124
HP:0003319	Abnormality of the cervical spine	6223	RPS19	OMIM:105650
HP:0003319	Abnormality of the cervical spine	6232	RPS27	ORPHA:124
HP:0003319	Abnormality of the cervical spine	55027	HEATR3	ORPHA:124
HP:0003319	Abnormality of the cervical spine	6160	RPL31	ORPHA:124
HP:0003319	Abnormality of the cervical spine	6201	RPS7	ORPHA:124
HP:0003319	Abnormality of the cervical spine	6155	RPL27	ORPHA:124
HP:0003319	Abnormality of the cervical spine	6234	RPS28	ORPHA:124
HP:0003319	Abnormality of the cervical spine	6135	RPL11	ORPHA:124
HP:0003319	Abnormality of the cervical spine	6229	RPS24	ORPHA:124
HP:0003319	Abnormality of the cervical spine	6125	RPL5	ORPHA:124
HP:0003319	Abnormality of the cervical spine	6204	RPS10	ORPHA:124
HP:0003319	Abnormality of the cervical spine	2623	GATA1	ORPHA:124
HP:0003319	Abnormality of the cervical spine	6133	RPL9	ORPHA:124
HP:0003319	Abnormality of the cervical spine	6231	RPS26	ORPHA:124
HP:0003319	Abnormality of the cervical spine	11224	RPL35	ORPHA:124
HP:0003319	Abnormality of the cervical spine	6218	RPS17	ORPHA:124
HP:0003319	Abnormality of the cervical spine	6154	RPL26	ORPHA:124
HP:0003319	Abnormality of the cervical spine	6210	RPS15A	ORPHA:124
HP:0003319	Abnormality of the cervical spine	90121	TSR2	ORPHA:124
HP:0003319	Abnormality of the cervical spine	6141	RPL18	ORPHA:124
HP:0003319	Abnormality of the cervical spine	6235	RPS29	ORPHA:124
HP:0003319	Abnormality of the cervical spine	51816	ADA2	ORPHA:124
HP:0003319	Abnormality of the cervical spine	3845	KRAS	OMIM:600268
HP:0003319	Abnormality of the cervical spine	3845	KRAS	ORPHA:1340
HP:0003319	Abnormality of the cervical spine	3845	KRAS	OMIM:609942
HP:0003319	Abnormality of the cervical spine	6261	RYR1	OMIM:619542
HP:0003319	Abnormality of the cervical spine	9742	IFT140	OMIM:266920
HP:0003319	Abnormality of the cervical spine	54101	RIPK4	OMIM:263650
HP:0003319	Abnormality of the cervical spine	26173	INTS1	OMIM:618571
HP:0003319	Abnormality of the cervical spine	9427	ECEL1	OMIM:615065
HP:0003319	Abnormality of the cervical spine	93587	TRMT10A	OMIM:616033
HP:0003319	Abnormality of the cervical spine	93587	TRMT10A	ORPHA:391408
HP:0003319	Abnormality of the cervical spine	29968	PSAT1	OMIM:616038
HP:0003319	Abnormality of the cervical spine	29968	PSAT1	ORPHA:284417
HP:0003319	Abnormality of the cervical spine	5426	POLE	OMIM:618336
HP:0003319	Abnormality of the cervical spine	27145	FILIP1	OMIM:620775
HP:0003319	Abnormality of the cervical spine	6654	SOS1	OMIM:610733
HP:0003319	Abnormality of the cervical spine	54808	DYM	ORPHA:239
HP:0003319	Abnormality of the cervical spine	54808	DYM	OMIM:607326
HP:0003319	Abnormality of the cervical spine	54808	DYM	OMIM:223800
HP:0003319	Abnormality of the cervical spine	2879	GPX4	OMIM:250220
HP:0003319	Abnormality of the cervical spine	9949	AMMECR1	OMIM:300990
HP:0003319	Abnormality of the cervical spine	4921	DDR2	OMIM:271665
HP:0003319	Abnormality of the cervical spine	22827	PUF60	ORPHA:508498
HP:0003319	Abnormality of the cervical spine	22827	PUF60	ORPHA:508488
HP:0003319	Abnormality of the cervical spine	22827	PUF60	OMIM:615583
HP:0003319	Abnormality of the cervical spine	65992	DDRGK1	OMIM:602557
HP:0003319	Abnormality of the cervical spine	65992	DDRGK1	ORPHA:93352
HP:0003319	Abnormality of the cervical spine	10466	COG5	ORPHA:263487
HP:0003319	Abnormality of the cervical spine	6909	TBX2	OMIM:618223
HP:0003319	Abnormality of the cervical spine	2187	FANCB	OMIM:300514
HP:0003319	Abnormality of the cervical spine	23314	SATB2	ORPHA:251028
HP:0003319	Abnormality of the cervical spine	8675	STX16	ORPHA:94089
HP:0003319	Abnormality of the cervical spine	55869	HDAC8	OMIM:300882
HP:0003319	Abnormality of the cervical spine	55869	HDAC8	ORPHA:199
HP:0003319	Abnormality of the cervical spine	91754	NEK9	OMIM:617022
HP:0003319	Abnormality of the cervical spine	55215	FANCI	OMIM:609053
HP:0003319	Abnormality of the cervical spine	23524	SRRM2	OMIM:620439
HP:0003319	Abnormality of the cervical spine	5010	CLDN11	OMIM:619328
HP:0003319	Abnormality of the cervical spine	176	ACAN	OMIM:612813
HP:0003319	Abnormality of the cervical spine	176	ACAN	ORPHA:171866
HP:0003319	Abnormality of the cervical spine	9126	SMC3	OMIM:610759
HP:0003319	Abnormality of the cervical spine	9126	SMC3	ORPHA:199
HP:0003319	Abnormality of the cervical spine	79068	FTO	OMIM:612938
HP:0003319	Abnormality of the cervical spine	3417	IDH1	ORPHA:99646
HP:0003319	Abnormality of the cervical spine	4763	NF1	OMIM:601321
HP:0003319	Abnormality of the cervical spine	3039	HBA1	ORPHA:98791
HP:0003319	Abnormality of the cervical spine	3040	HBA2	ORPHA:98791
HP:0003319	Abnormality of the cervical spine	10940	POP1	OMIM:617396
HP:0003319	Abnormality of the cervical spine	54496	PRMT7	OMIM:617157
HP:0003319	Abnormality of the cervical spine	54496	PRMT7	ORPHA:464288
HP:0003319	Abnormality of the cervical spine	165	AEBP1	OMIM:618000
HP:0003319	Abnormality of the cervical spine	8260	NAA10	OMIM:300855
HP:0003319	Abnormality of the cervical spine	10082	GPC6	OMIM:258315
HP:0003319	Abnormality of the cervical spine	11145	PLAAT3	OMIM:620683
HP:0003319	Abnormality of the cervical spine	23389	MED13L	ORPHA:369891
HP:0003319	Abnormality of the cervical spine	23389	MED13L	OMIM:616789
HP:0003319	Abnormality of the cervical spine	1312	COMT	ORPHA:567
HP:0003319	Abnormality of the cervical spine	221037	JMJD1C	ORPHA:567
HP:0003319	Abnormality of the cervical spine	2812	GP1BB	ORPHA:567
HP:0003319	Abnormality of the cervical spine	6239	RREB1	ORPHA:567
HP:0003319	Abnormality of the cervical spine	6899	TBX1	ORPHA:567
HP:0003319	Abnormality of the cervical spine	7290	HIRA	ORPHA:567
HP:0003319	Abnormality of the cervical spine	9632	SEC24C	ORPHA:567
HP:0003319	Abnormality of the cervical spine	7353	UFD1	ORPHA:567
HP:0003319	Abnormality of the cervical spine	421	ARVCF	ORPHA:567
HP:0003319	Abnormality of the cervical spine	3265	HRAS	ORPHA:3071
HP:0003319	Abnormality of the cervical spine	3265	HRAS	OMIM:218040
HP:0003319	Abnormality of the cervical spine	7319	UBE2A	OMIM:300860
HP:0003319	Abnormality of the cervical spine	3977	LIFR	OMIM:601559
HP:0003319	Abnormality of the cervical spine	5277	PIGA	OMIM:300868
HP:0003319	Abnormality of the cervical spine	9244	CRLF1	OMIM:272430
HP:0003319	Abnormality of the cervical spine	64864	RFX7	OMIM:620330
HP:0003319	Abnormality of the cervical spine	285489	DOK7	OMIM:618389
HP:0003319	Abnormality of the cervical spine	29895	MYL11	OMIM:619110
HP:0003319	Abnormality of the cervical spine	145173	B3GLCT	OMIM:261540
HP:0003319	Abnormality of the cervical spine	145173	B3GLCT	ORPHA:709
HP:0003319	Abnormality of the cervical spine	26005	C2CD3	ORPHA:434179
HP:0003319	Abnormality of the cervical spine	6513	SLC2A1	ORPHA:168577
HP:0003319	Abnormality of the cervical spine	80036	TRPM3	OMIM:620224
HP:0003319	Abnormality of the cervical spine	4927	NUP88	OMIM:618393
HP:0003319	Abnormality of the cervical spine	3636	INPPL1	OMIM:258480
HP:0003319	Abnormality of the cervical spine	3636	INPPL1	ORPHA:3144
HP:0003319	Abnormality of the cervical spine	203068	TUBB	OMIM:156610
HP:0003319	Abnormality of the cervical spine	6872	TAF1	OMIM:300966
HP:0003319	Abnormality of the cervical spine	8567	MADD	OMIM:619004
HP:0003319	Abnormality of the cervical spine	51715	RAB23	OMIM:201000
HP:0003319	Abnormality of the cervical spine	23233	EXOC6B	OMIM:618395
HP:0003319	Abnormality of the cervical spine	2273	FHL1	OMIM:300718
HP:0003319	Abnormality of the cervical spine	2273	FHL1	OMIM:300696
HP:0003319	Abnormality of the cervical spine	2273	FHL1	ORPHA:98863
HP:0003319	Abnormality of the cervical spine	226	ALDOA	OMIM:611881
HP:0003319	Abnormality of the cervical spine	8450	CUL4B	ORPHA:85293
HP:0003319	Abnormality of the cervical spine	23169	SLC35D1	OMIM:269250
HP:0003319	Abnormality of the cervical spine	23169	SLC35D1	ORPHA:3144
HP:0003319	Abnormality of the cervical spine	84919	PPP1R15B	ORPHA:391408
HP:0003319	Abnormality of the cervical spine	4222	MEOX1	OMIM:214300
HP:0003319	Abnormality of the cervical spine	4222	MEOX1	ORPHA:2345
HP:0003319	Abnormality of the cervical spine	2799	GNS	OMIM:252940
HP:0003319	Abnormality of the cervical spine	673	BRAF	OMIM:613707
HP:0003319	Abnormality of the cervical spine	673	BRAF	OMIM:613706
HP:0003319	Abnormality of the cervical spine	673	BRAF	OMIM:115150
HP:0003319	Abnormality of the cervical spine	673	BRAF	ORPHA:1340
HP:0003319	Abnormality of the cervical spine	673	BRAF	OMIM:163950
HP:0003319	Abnormality of the cervical spine	126792	B3GALT6	OMIM:271640
HP:0003319	Abnormality of the cervical spine	4081	MAB21L1	ORPHA:495875
HP:0003319	Abnormality of the cervical spine	84231	TRAF7	OMIM:618164
HP:0003319	Abnormality of the cervical spine	89970	RSPRY1	ORPHA:457395
HP:0003319	Abnormality of the cervical spine	89970	RSPRY1	OMIM:616723
HP:0003319	Abnormality of the cervical spine	2733	GLE1	OMIM:611890
HP:0003319	Abnormality of the cervical spine	2733	GLE1	ORPHA:1486
HP:0003319	Abnormality of the cervical spine	51594	NBAS	OMIM:614800
HP:0003319	Abnormality of the cervical spine	168667	BMPER	ORPHA:66637
HP:0003319	Abnormality of the cervical spine	168667	BMPER	OMIM:608022
HP:0003319	Abnormality of the cervical spine	54187	NANS	OMIM:610442
HP:0003319	Abnormality of the cervical spine	6329	SCN4A	OMIM:620369
HP:0003319	Abnormality of the cervical spine	4683	NBN	ORPHA:647
HP:0003319	Abnormality of the cervical spine	7474	WNT5A	OMIM:180700
HP:0003319	Abnormality of the cervical spine	7474	WNT5A	ORPHA:3107
HP:0003319	Abnormality of the cervical spine	5727	PTCH1	ORPHA:77301
HP:0003319	Abnormality of the cervical spine	9897	WASHC5	ORPHA:7
HP:0003319	Abnormality of the cervical spine	28952	CCDC22	ORPHA:7
HP:0003319	Abnormality of the cervical spine	57020	VPS35L	ORPHA:7
HP:0003319	Abnormality of the cervical spine	56896	DPYSL5	ORPHA:7
HP:0003319	Abnormality of the cervical spine	6913	TBX15	OMIM:260660
HP:0003319	Abnormality of the cervical spine	6913	TBX15	ORPHA:93333
HP:0003319	Abnormality of the cervical spine	84842	HPDL	OMIM:619026
HP:0003319	Abnormality of the cervical spine	8022	LHX3	ORPHA:231720
HP:0003319	Abnormality of the cervical spine	8022	LHX3	ORPHA:226307
HP:0003319	Abnormality of the cervical spine	8022	LHX3	OMIM:221750
HP:0003319	Abnormality of the cervical spine	51109	RDH11	ORPHA:436245
HP:0003319	Abnormality of the cervical spine	283450	HECTD4	OMIM:620250
HP:0003319	Abnormality of the cervical spine	8243	SMC1A	OMIM:300590
HP:0003319	Abnormality of the cervical spine	8243	SMC1A	ORPHA:199
HP:0003319	Abnormality of the cervical spine	6399	TRAPPC2	ORPHA:93284
HP:0003319	Abnormality of the cervical spine	6399	TRAPPC2	OMIM:313400
HP:0003319	Abnormality of the cervical spine	9131	AIFM1	OMIM:300232
HP:0003319	Abnormality of the cervical spine	324	APC	ORPHA:261584
HP:0003319	Abnormality of the cervical spine	5393	EXOSC9	OMIM:618065
HP:0003319	Abnormality of the cervical spine	26128	KIFBP	OMIM:609460
HP:0003319	Abnormality of the cervical spine	23556	PIGN	ORPHA:2059
HP:0003319	Abnormality of the cervical spine	23556	PIGN	ORPHA:280633
HP:0003319	Abnormality of the cervical spine	161742	SPRED1	OMIM:611431
HP:0003319	Abnormality of the cervical spine	5894	RAF1	OMIM:611554
HP:0003319	Abnormality of the cervical spine	5894	RAF1	OMIM:611553
HP:0003319	Abnormality of the cervical spine	57539	WDR35	OMIM:613610
HP:0003319	Abnormality of the cervical spine	118429	ANTXR2	ORPHA:2176
HP:0003319	Abnormality of the cervical spine	1303	COL12A1	ORPHA:75840
HP:0003319	Abnormality of the cervical spine	1291	COL6A1	ORPHA:75840
HP:0003319	Abnormality of the cervical spine	1293	COL6A3	ORPHA:75840
HP:0003319	Abnormality of the cervical spine	58	ACTA1	ORPHA:171436
HP:0003319	Abnormality of the cervical spine	7169	TPM2	ORPHA:171436
HP:0003319	Abnormality of the cervical spine	7169	TPM2	ORPHA:1147
HP:0003319	Abnormality of the cervical spine	4703	NEB	ORPHA:171436
HP:0003319	Abnormality of the cervical spine	10324	KLHL41	ORPHA:171436
HP:0003319	Abnormality of the cervical spine	56203	LMOD3	ORPHA:171436
HP:0003319	Abnormality of the cervical spine	1073	CFL2	ORPHA:171436
HP:0003319	Abnormality of the cervical spine	4010	LMX1B	ORPHA:495818
HP:0003319	Abnormality of the cervical spine	6812	STXBP1	ORPHA:495818
HP:0003319	Abnormality of the cervical spine	80055	PGAP1	OMIM:615802
HP:0003319	Abnormality of the cervical spine	10847	SRCAP	ORPHA:2044
HP:0003319	Abnormality of the cervical spine	10847	SRCAP	OMIM:136140
HP:0003319	Abnormality of the cervical spine	1717	DHCR7	ORPHA:818
HP:0003319	Abnormality of the cervical spine	55780	ERMARD	ORPHA:75857
HP:0003319	Abnormality of the cervical spine	10978	CLP1	OMIM:615803
HP:0003319	Abnormality of the cervical spine	26153	KIF26A	OMIM:620156
HP:0003319	Abnormality of the cervical spine	9382	COG1	OMIM:611209
HP:0003319	Abnormality of the cervical spine	9382	COG1	ORPHA:263508
HP:0003319	Abnormality of the cervical spine	1146	CHRNG	OMIM:265000
HP:0003319	Abnormality of the cervical spine	84992	PIGY	ORPHA:247262
HP:0003319	Abnormality of the cervical spine	84992	PIGY	OMIM:616809
HP:0003319	Abnormality of the cervical spine	84720	PIGO	ORPHA:247262
HP:0003319	Abnormality of the cervical spine	93210	PGAP3	ORPHA:247262
HP:0003319	Abnormality of the cervical spine	284098	PIGW	ORPHA:247262
HP:0003319	Abnormality of the cervical spine	27315	PGAP2	ORPHA:247262
HP:0003319	Abnormality of the cervical spine	55650	PIGV	ORPHA:247262
HP:0003319	Abnormality of the cervical spine	9487	PIGL	ORPHA:247262
HP:0003319	Abnormality of the cervical spine	3899	AFF3	OMIM:619297
HP:0003319	Abnormality of the cervical spine	1954	MEGF8	OMIM:614976
HP:0003319	Abnormality of the cervical spine	79867	TCTN2	OMIM:613885
HP:0003319	Abnormality of the cervical spine	1302	COL11A2	ORPHA:2021
HP:0003319	Abnormality of the cervical spine	1302	COL11A2	ORPHA:1427
HP:0003319	Abnormality of the cervical spine	79053	ALG8	OMIM:608104
HP:0003319	Abnormality of the cervical spine	3756	KCNH1	ORPHA:3473
HP:0003319	Abnormality of the cervical spine	3782	KCNN3	ORPHA:3473
HP:0003319	Abnormality of the cervical spine	3425	IDUA	OMIM:607014
HP:0003319	Abnormality of the cervical spine	3425	IDUA	OMIM:607016
HP:0003319	Abnormality of the cervical spine	3425	IDUA	ORPHA:93473
HP:0003319	Abnormality of the cervical spine	6911	TBX6	OMIM:122600
HP:0003319	Abnormality of the cervical spine	6911	TBX6	ORPHA:1797
HP:0003319	Abnormality of the cervical spine	374654	KIF7	OMIM:607131
HP:0003319	Abnormality of the cervical spine	26227	PHGDH	OMIM:256520
HP:0003319	Abnormality of the cervical spine	9653	HS2ST1	OMIM:619194
HP:0003319	Abnormality of the cervical spine	392255	GDF6	OMIM:118100
HP:0003319	Abnormality of the cervical spine	392255	GDF6	ORPHA:2345
HP:0003319	Abnormality of the cervical spine	4593	MUSK	OMIM:208150
HP:0003319	Abnormality of the cervical spine	5626	PROP1	ORPHA:226307
HP:0003319	Abnormality of the cervical spine	89884	LHX4	ORPHA:226307
HP:0003319	Abnormality of the cervical spine	5449	POU1F1	ORPHA:226307
HP:0003319	Abnormality of the cervical spine	8820	HESX1	ORPHA:226307
HP:0003319	Abnormality of the cervical spine	1857	DVL3	ORPHA:3107
HP:0003319	Abnormality of the cervical spine	1857	DVL3	OMIM:616894
HP:0003319	Abnormality of the cervical spine	2535	FZD2	ORPHA:3107
HP:0003319	Abnormality of the cervical spine	285175	UNC80	OMIM:616801
HP:0003319	Abnormality of the cervical spine	285175	UNC80	ORPHA:371364
HP:0003319	Abnormality of the cervical spine	54499	TMCO1	OMIM:213980
HP:0003319	Abnormality of the cervical spine	54499	TMCO1	ORPHA:1394
HP:0003319	Abnormality of the cervical spine	11128	POLR3A	OMIM:264090
HP:0003319	Abnormality of the cervical spine	55165	CEP55	OMIM:236500
HP:0003319	Abnormality of the cervical spine	157570	ESCO2	ORPHA:3103
HP:0003319	Abnormality of the cervical spine	157570	ESCO2	OMIM:268300
HP:0003319	Abnormality of the cervical spine	10236	HNRNPR	OMIM:620073
HP:0003319	Abnormality of the cervical spine	4089	SMAD4	OMIM:139210
HP:0003319	Abnormality of the cervical spine	5594	MAPK1	OMIM:619087
HP:0003319	Abnormality of the cervical spine	1654	DDX3X	ORPHA:3338
HP:0003319	Abnormality of the cervical spine	388015	RTL1	ORPHA:96334
HP:0003319	Abnormality of the cervical spine	8788	DLK1	ORPHA:96334
HP:0003319	Abnormality of the cervical spine	55384	MEG3	ORPHA:96334
HP:0003319	Abnormality of the cervical spine	3911	LAMA5	OMIM:620076
HP:0003319	Abnormality of the cervical spine	145873	MESP2	OMIM:608681
HP:0003319	Abnormality of the cervical spine	145873	MESP2	OMIM:277300
HP:0003319	Abnormality of the cervical spine	145873	MESP2	ORPHA:2311
HP:0003319	Abnormality of the cervical spine	546	ATRX	OMIM:309580
HP:0003319	Abnormality of the cervical spine	7140	TNNT3	ORPHA:1147
HP:0003319	Abnormality of the cervical spine	7136	TNNI2	ORPHA:1147
HP:0003319	Abnormality of the cervical spine	6611	SMS	OMIM:309583
HP:0003319	Abnormality of the cervical spine	51322	WAC	OMIM:616708
HP:0003319	Abnormality of the cervical spine	9321	TRIP11	ORPHA:93299
HP:0003319	Abnormality of the cervical spine	9321	TRIP11	OMIM:200600
HP:0003319	Abnormality of the cervical spine	2010	EMD	ORPHA:98863
HP:0003319	Abnormality of the cervical spine	79158	GNPTAB	ORPHA:423461
HP:0003319	Abnormality of the cervical spine	701	BUB1B	OMIM:257300
HP:0003319	Abnormality of the cervical spine	10682	EBP	OMIM:302960
HP:0003319	Abnormality of the cervical spine	5781	PTPN11	OMIM:151100
HP:0003319	Abnormality of the cervical spine	5781	PTPN11	OMIM:163950
HP:0003319	Abnormality of the cervical spine	29123	ANKRD11	OMIM:148050
HP:0003319	Abnormality of the cervical spine	29123	ANKRD11	ORPHA:2332
HP:0003319	Abnormality of the cervical spine	2703	GJA8	OMIM:612474
HP:0003319	Abnormality of the cervical spine	2702	GJA5	OMIM:612474
HP:0003319	Abnormality of the cervical spine	867	CBL	OMIM:613563
HP:0003319	Abnormality of the cervical spine	51025	PAM16	OMIM:613320
HP:0003319	Abnormality of the cervical spine	84667	HES7	OMIM:613686
HP:0003319	Abnormality of the cervical spine	84667	HES7	ORPHA:2311
HP:0003319	Abnormality of the cervical spine	9573	GDF3	ORPHA:2345
HP:0003319	Abnormality of the cervical spine	4352	MPL	ORPHA:3319
HP:0003319	Abnormality of the cervical spine	7066	THPO	ORPHA:3319
HP:0003319	Abnormality of the cervical spine	27152	INTU	OMIM:617925
HP:0003319	Abnormality of the cervical spine	27152	INTU	OMIM:617926
HP:0003319	Abnormality of the cervical spine	90417	KNSTRN	OMIM:613328
HP:0003319	Abnormality of the cervical spine	5293	PIK3CD	OMIM:613328
HP:0003319	Abnormality of the cervical spine	6888	TALDO1	OMIM:606003
HP:0003319	Abnormality of the cervical spine	2261	FGFR3	OMIM:187600
HP:0003319	Abnormality of the cervical spine	55906	ZC4H2	OMIM:301041
HP:0003319	Abnormality of the cervical spine	55906	ZC4H2	OMIM:314580
HP:0003319	Abnormality of the cervical spine	27238	GPKOW	ORPHA:2570
HP:0003319	Abnormality of the cervical spine	579	NKX3-2	OMIM:613330
HP:0003319	Abnormality of the cervical spine	100151683	RNU4ATAC	OMIM:210710
HP:0003319	Abnormality of the cervical spine	100151683	RNU4ATAC	ORPHA:2636
HP:0003319	Abnormality of the cervical spine	2335	FN1	ORPHA:93315
HP:0003319	Abnormality of the cervical spine	9759	HDAC4	ORPHA:1001
HP:0003319	Abnormality of the cervical spine	54361	WNT4	ORPHA:2578
HP:0003319	Abnormality of the cervical spine	54361	WNT4	ORPHA:247768
HP:0003319	Abnormality of the cervical spine	6928	HNF1B	ORPHA:2578
HP:0003319	Abnormality of the cervical spine	4854	NOTCH3	OMIM:130720
HP:0003319	Abnormality of the cervical spine	4854	NOTCH3	ORPHA:2789
HP:0003319	Abnormality of the cervical spine	113179	ADAT3	ORPHA:363528
HP:0003319	Abnormality of the cervical spine	3313	HSPA9	OMIM:616854
HP:0003319	Abnormality of the cervical spine	4893	NRAS	OMIM:613224
HP:0003319	Abnormality of the cervical spine	91869	RFT1	OMIM:612015
HP:0003319	Abnormality of the cervical spine	10982	MAPRE2	OMIM:616734
HP:0003319	Abnormality of the cervical spine	10683	DLL3	OMIM:277300
HP:0003319	Abnormality of the cervical spine	10683	DLL3	ORPHA:2311
HP:0003319	Abnormality of the cervical spine	4204	MECP2	OMIM:300055
HP:0003319	Abnormality of the cervical spine	2068	ERCC2	ORPHA:1466
HP:0003319	Abnormality of the cervical spine	2067	ERCC1	ORPHA:1466
HP:0003319	Abnormality of the cervical spine	2074	ERCC6	ORPHA:1466
HP:0003319	Abnormality of the cervical spine	2073	ERCC5	ORPHA:1466
HP:0003319	Abnormality of the cervical spine	5925	RB1	ORPHA:1587
HP:0003319	Abnormality of the cervical spine	23511	NUP188	OMIM:618804
HP:0003319	Abnormality of the cervical spine	134701	RIPPLY2	ORPHA:2311
HP:0003319	Abnormality of the cervical spine	3955	LFNG	ORPHA:2311
HP:0003319	Abnormality of the cervical spine	5605	MAP2K2	ORPHA:1340
HP:0003319	Abnormality of the cervical spine	64131	XYLT1	OMIM:615777
HP:0003319	Abnormality of the cervical spine	64131	XYLT1	ORPHA:1425
HP:0003319	Abnormality of the cervical spine	10943	MSL3	OMIM:301032
HP:0003319	Abnormality of the cervical spine	5718	PSMD12	ORPHA:529962
HP:0003319	Abnormality of the cervical spine	2186	BPTF	ORPHA:529962
HP:0003319	Abnormality of the cervical spine	84342	COG8	OMIM:611182
HP:0003319	Abnormality of the cervical spine	55969	RAB5IF	OMIM:616994
HP:0003319	Abnormality of the cervical spine	6638	SNRPN	ORPHA:177907
HP:0003319	Abnormality of the cervical spine	2313	FLI1	ORPHA:2308
HP:0003319	Abnormality of the cervical spine	29980	DONSON	OMIM:251230
HP:0003319	Abnormality of the cervical spine	60	ACTB	OMIM:243310
HP:0003319	Abnormality of the cervical spine	60	ACTB	ORPHA:2995
HP:0003319	Abnormality of the cervical spine	23476	BRD4	ORPHA:199
HP:0003319	Abnormality of the cervical spine	6878	TAF6	ORPHA:199
HP:0003319	Abnormality of the cervical spine	5885	RAD21	ORPHA:199
HP:0003319	Abnormality of the cervical spine	71	ACTG1	OMIM:614583
HP:0003319	Abnormality of the cervical spine	71	ACTG1	ORPHA:2995
HP:0003319	Abnormality of the cervical spine	10367	MICU1	OMIM:615673
HP:0003319	Abnormality of the cervical spine	2588	GALNS	OMIM:253000
HP:0003319	Abnormality of the cervical spine	1861	TOR1A	OMIM:618947
HP:0003319	Abnormality of the cervical spine	91461	PKDCC	OMIM:618821
HP:0003319	Abnormality of the cervical spine	6182	MRPL12	OMIM:618951
HP:0003319	Abnormality of the cervical spine	202018	TAPT1	OMIM:616897
HP:0003319	Abnormality of the cervical spine	1806	DPYD	ORPHA:1675
HP:0003319	Abnormality of the cervical spine	28957	MRPS28	OMIM:618958
HP:0003319	Abnormality of the cervical spine	5500	PPP1CB	OMIM:617506
HP:0003319	Abnormality of the cervical spine	9786	KIAA0586	OMIM:616546
HP:0003319	Abnormality of the cervical spine	84700	MYO18B	OMIM:616549
HP:0003319	Abnormality of the cervical spine	10225	CD96	ORPHA:1308
HP:0003319	Abnormality of the cervical spine	55790	CSGALNACT1	ORPHA:1425
HP:0003319	Abnormality of the cervical spine	6910	TBX5	OMIM:142900
HP:0003319	Abnormality of the cervical spine	26229	B3GAT3	OMIM:245600
HP:0003319	Abnormality of the cervical spine	83452	RAB33B	OMIM:615222
HP:0003319	Abnormality of the cervical spine	22861	NLRP1	OMIM:615225
HP:0003319	Abnormality of the cervical spine	64221	ROBO3	ORPHA:2744
HP:0003319	Abnormality of the cervical spine	1630	DCC	ORPHA:2744
HP:0003319	Abnormality of the cervical spine	6655	SOS2	OMIM:616559
HP:0003319	Abnormality of the cervical spine	64412	GZF1	OMIM:617662
HP:0003319	Abnormality of the cervical spine	2137	EXTL3	ORPHA:508533
HP:0003319	Abnormality of the cervical spine	10262	SF3B4	OMIM:154400
HP:0003319	Abnormality of the cervical spine	9150	CTDP1	ORPHA:48431
HP:0003319	Abnormality of the cervical spine	113189	CHST14	ORPHA:2953
HP:0003319	Abnormality of the cervical spine	29940	DSE	ORPHA:2953
HP:0003319	Abnormality of the cervical spine	1387	CREBBP	ORPHA:353277
HP:0003319	Abnormality of the cervical spine	1387	CREBBP	ORPHA:353281
HP:0003319	Abnormality of the cervical spine	2263	FGFR2	OMIM:123500
HP:0003319	Abnormality of the cervical spine	1859	DYRK1A	ORPHA:464311
HP:0003319	Abnormality of the cervical spine	2317	FLNB	ORPHA:503
HP:0003319	Abnormality of the cervical spine	6775	STAT4	ORPHA:85408
HP:0003319	Abnormality of the cervical spine	3560	IL2RB	ORPHA:85408
HP:0003319	Abnormality of the cervical spine	79722	ANKRD55	ORPHA:85408
HP:0003319	Abnormality of the cervical spine	26191	PTPN22	ORPHA:85408
HP:0003319	Abnormality of the cervical spine	919	CD247	ORPHA:85408
HP:0003319	Abnormality of the cervical spine	3559	IL2RA	ORPHA:85408
HP:0003319	Abnormality of the cervical spine	5771	PTPN2	ORPHA:85408
HP:0003319	Abnormality of the cervical spine	9907	AP5Z1	ORPHA:306511
HP:0003319	Abnormality of the cervical spine	1009	CDH11	ORPHA:1299
HP:0003319	Abnormality of the cervical spine	5332	PLCB4	OMIM:620458
HP:0003319	Abnormality of the cervical spine	2245	FGD1	ORPHA:915
HP:0003319	Abnormality of the cervical spine	2033	EP300	ORPHA:353284
HP:0003319	Abnormality of the cervical spine	4313	MMP2	OMIM:259600
HP:0003319	Abnormality of the cervical spine	2517	FUCA1	OMIM:230000
HP:0003319	Abnormality of the cervical spine	57647	DHX37	OMIM:618731
HP:0003319	Abnormality of the cervical spine	29925	GMPPB	ORPHA:370968
HP:0003319	Abnormality of the cervical spine	79147	FKRP	ORPHA:370968
HP:0003319	Abnormality of the cervical spine	29954	POMT2	ORPHA:370968
HP:0003319	Abnormality of the cervical spine	9215	LARGE1	ORPHA:370968
HP:0003319	Abnormality of the cervical spine	10585	POMT1	ORPHA:370968
HP:0003319	Abnormality of the cervical spine	3170	FOXA2	ORPHA:95494
HP:0003319	Abnormality of the cervical spine	5015	OTX2	ORPHA:95494
HP:0003319	Abnormality of the cervical spine	8838	CCN6	OMIM:208230
HP:0003319	Abnormality of the cervical spine	1134	CHRNA1	OMIM:253290
HP:0003319	Abnormality of the cervical spine	1144	CHRND	OMIM:253290
HP:0003319	Abnormality of the cervical spine	347734	SLC35B2	OMIM:620269
HP:0003319	Abnormality of the cervical spine	6497	SKI	OMIM:182212
HP:0003319	Abnormality of the cervical spine	5654	HTRA1	ORPHA:199354
HP:0003319	Abnormality of the cervical spine	1311	COMP	ORPHA:750
HP:0003319	Abnormality of the cervical spine	4088	SMAD3	OMIM:613795
HP:0003319	Abnormality of the cervical spine	7046	TGFBR1	OMIM:609192
HP:0003319	Abnormality of the cervical spine	633	BGN	OMIM:300989
HP:0003319	Abnormality of the cervical spine	415	ARSL	ORPHA:79345
HP:0003319	Abnormality of the cervical spine	7043	TGFB3	OMIM:615582
HP:0100876	Infra-orbital crease	55699	IARS2	OMIM:616007
HP:0100876	Infra-orbital crease	4036	LRP2	OMIM:222448
HP:0100876	Infra-orbital crease	6659	SOX4	OMIM:618506
HP:0100876	Infra-orbital crease	1725	DHPS	OMIM:618480
HP:0100876	Infra-orbital crease	4190	MDH1	OMIM:618959
HP:0100876	Infra-orbital crease	16	AARS1	OMIM:619691
HP:0100876	Infra-orbital crease	2263	FGFR2	OMIM:123790
HP:0100876	Infra-orbital crease	8260	NAA10	OMIM:300855
HP:0100876	Infra-orbital crease	54517	PUS7	OMIM:618342
HP:0007797	Retinal vascular malformation	889	KRIT1	OMIM:116860
HP:0007797	Retinal vascular malformation	11235	PDCD10	ORPHA:221061
HP:0007797	Retinal vascular malformation	5290	PIK3CA	ORPHA:221061
HP:0007797	Retinal vascular malformation	83605	CCM2	ORPHA:221061
HP:0007799	Conjunctival whitish salt-like deposits	2591	GALNT3	OMIM:211900
HP:0010852	EEG with photoparoxysmal response	401474	SAMD12	OMIM:601068
HP:0010852	EEG with photoparoxysmal response	56910	STARD7	OMIM:607876
HP:0010852	EEG with photoparoxysmal response	23219	FBXO28	OMIM:619777
HP:0010852	EEG with photoparoxysmal response	2554	GABRA1	OMIM:615744
HP:0010852	EEG with photoparoxysmal response	55164	SHQ1	OMIM:619922
HP:0010852	EEG with photoparoxysmal response	10715	CERS1	OMIM:616230
HP:0010852	EEG with photoparoxysmal response	10299	MARCHF6	OMIM:613608
HP:0001331	Absent septum pellucidum	8820	HESX1	OMIM:182230
HP:0001331	Absent septum pellucidum	8820	HESX1	ORPHA:95494
HP:0001331	Absent septum pellucidum	8820	HESX1	ORPHA:3157
HP:0001331	Absent septum pellucidum	4784	NFIX	OMIM:602535
HP:0001331	Absent septum pellucidum	6748	SSR4	ORPHA:370927
HP:0001331	Absent septum pellucidum	2263	FGFR2	ORPHA:87
HP:0001331	Absent septum pellucidum	2263	FGFR2	OMIM:101200
HP:0001331	Absent septum pellucidum	51360	MBTPS2	ORPHA:2273
HP:0001331	Absent septum pellucidum	23007	PLCH1	OMIM:619895
HP:0001331	Absent septum pellucidum	4593	MUSK	OMIM:208150
HP:0001331	Absent septum pellucidum	23019	CNOT1	OMIM:618500
HP:0001331	Absent septum pellucidum	54539	NDUFB11	OMIM:309801
HP:0001331	Absent septum pellucidum	54539	NDUFB11	ORPHA:2556
HP:0001331	Absent septum pellucidum	1349	COX7B	OMIM:309801
HP:0001331	Absent septum pellucidum	1349	COX7B	ORPHA:2556
HP:0001331	Absent septum pellucidum	3052	HCCS	OMIM:309801
HP:0001331	Absent septum pellucidum	3052	HCCS	ORPHA:2556
HP:0001331	Absent septum pellucidum	9791	PTDSS1	ORPHA:2658
HP:0001331	Absent septum pellucidum	4659	PPP1R12A	OMIM:618820
HP:0001331	Absent septum pellucidum	2146	EZH2	OMIM:277590
HP:0001331	Absent septum pellucidum	2260	FGFR1	ORPHA:2396
HP:0001331	Absent septum pellucidum	2260	FGFR1	ORPHA:3157
HP:0001331	Absent septum pellucidum	3845	KRAS	ORPHA:2396
HP:0001331	Absent septum pellucidum	3845	KRAS	ORPHA:3339
HP:0001331	Absent septum pellucidum	79813	EHMT1	ORPHA:96147
HP:0001331	Absent septum pellucidum	3897	L1CAM	OMIM:307000
HP:0001331	Absent septum pellucidum	3897	L1CAM	ORPHA:2182
HP:0001331	Absent septum pellucidum	219844	HYLS1	OMIM:236680
HP:0001331	Absent septum pellucidum	219844	HYLS1	ORPHA:2189
HP:0001331	Absent septum pellucidum	80781	COL18A1	OMIM:267750
HP:0001331	Absent septum pellucidum	79848	CSPP1	ORPHA:397715
HP:0001331	Absent septum pellucidum	9786	KIAA0586	ORPHA:397715
HP:0001331	Absent septum pellucidum	1781	DYNC1I2	OMIM:618492
HP:0001331	Absent septum pellucidum	5626	PROP1	ORPHA:95494
HP:0001331	Absent septum pellucidum	2736	GLI2	ORPHA:95494
HP:0001331	Absent septum pellucidum	89884	LHX4	ORPHA:95494
HP:0001331	Absent septum pellucidum	3170	FOXA2	ORPHA:95494
HP:0001331	Absent septum pellucidum	5449	POU1F1	ORPHA:95494
HP:0001331	Absent septum pellucidum	5015	OTX2	ORPHA:95494
HP:0001331	Absent septum pellucidum	5015	OTX2	ORPHA:3157
HP:0001331	Absent septum pellucidum	1718	DHCR24	ORPHA:35107
HP:0001331	Absent septum pellucidum	11041	B4GAT1	OMIM:615287
HP:0001331	Absent septum pellucidum	11041	B4GAT1	ORPHA:899
HP:0001331	Absent septum pellucidum	5277	PIGA	OMIM:300868
HP:0001331	Absent septum pellucidum	55790	CSGALNACT1	OMIM:618870
HP:0001331	Absent septum pellucidum	55215	FANCI	OMIM:609053
HP:0001331	Absent septum pellucidum	22858	CILK1	OMIM:612651
HP:0001331	Absent septum pellucidum	374654	KIF7	ORPHA:2189
HP:0001331	Absent septum pellucidum	63895	PIEZO2	ORPHA:2461
HP:0001331	Absent septum pellucidum	7468	NSD2	OMIM:194190
HP:0001331	Absent septum pellucidum	10815	CPLX1	OMIM:194190
HP:0001331	Absent septum pellucidum	1487	CTBP1	OMIM:194190
HP:0001331	Absent septum pellucidum	53834	FGFRL1	OMIM:194190
HP:0001331	Absent septum pellucidum	3954	LETM1	OMIM:194190
HP:0001331	Absent septum pellucidum	128674	PROKR2	ORPHA:3157
HP:0001331	Absent septum pellucidum	6657	SOX2	ORPHA:3157
HP:0001331	Absent septum pellucidum	6658	SOX3	ORPHA:3157
HP:0001331	Absent septum pellucidum	9915	ARNT2	ORPHA:3157
HP:0001331	Absent septum pellucidum	57688	ZSWIM6	OMIM:603671
HP:0001331	Absent septum pellucidum	84892	POMGNT2	ORPHA:899
HP:0001331	Absent septum pellucidum	148789	B3GALNT2	ORPHA:899
HP:0001331	Absent septum pellucidum	79147	FKRP	ORPHA:899
HP:0001331	Absent septum pellucidum	29954	POMT2	ORPHA:899
HP:0001331	Absent septum pellucidum	9215	LARGE1	ORPHA:899
HP:0001331	Absent septum pellucidum	1282	COL4A1	ORPHA:899
HP:0001331	Absent septum pellucidum	729920	CRPPA	ORPHA:899
HP:0001331	Absent septum pellucidum	10329	RXYLT1	ORPHA:899
HP:0001331	Absent septum pellucidum	1605	DAG1	ORPHA:899
HP:0001331	Absent septum pellucidum	10585	POMT1	ORPHA:899
HP:0001331	Absent septum pellucidum	84197	POMK	ORPHA:899
HP:0001331	Absent septum pellucidum	2218	FKTN	ORPHA:899
HP:0001331	Absent septum pellucidum	55624	POMGNT1	ORPHA:899
HP:0001331	Absent septum pellucidum	10735	STAG2	OMIM:301043
HP:0001331	Absent septum pellucidum	55717	WDR11	ORPHA:95496
HP:0001331	Absent septum pellucidum	6091	ROBO1	ORPHA:95496
HP:0001331	Absent septum pellucidum	50937	CDON	ORPHA:95496
HP:0001331	Absent septum pellucidum	23432	GPR161	ORPHA:95496
HP:0001331	Absent septum pellucidum	9578	CDC42BPB	OMIM:619841
HP:0001331	Absent septum pellucidum	7473	WNT3	ORPHA:3301
HP:0001331	Absent septum pellucidum	340419	RSPO2	ORPHA:3301
HP:0001331	Absent septum pellucidum	9496	TBX4	ORPHA:3301
HP:0001332	Dystonia	58	ACTA1	ORPHA:97240
HP:0001332	Dystonia	10749	KIF1C	ORPHA:397946
HP:0001332	Dystonia	10749	KIF1C	OMIM:611302
HP:0001332	Dystonia	1291	COL6A1	OMIM:254090
HP:0001332	Dystonia	1291	COL6A1	ORPHA:75840
HP:0001332	Dystonia	1291	COL6A1	OMIM:158810
HP:0001332	Dystonia	55605	KIF21A	ORPHA:45358
HP:0001332	Dystonia	347733	TUBB2B	ORPHA:45358
HP:0001332	Dystonia	7846	TUBA1A	ORPHA:45358
HP:0001332	Dystonia	401	PHOX2A	ORPHA:45358
HP:0001332	Dystonia	84570	COL25A1	ORPHA:45358
HP:0001332	Dystonia	1303	COL12A1	ORPHA:75840
HP:0001332	Dystonia	1292	COL6A2	ORPHA:75840
HP:0001332	Dystonia	1292	COL6A2	OMIM:620727
HP:0001332	Dystonia	91754	NEK9	OMIM:617022
HP:0001332	Dystonia	81790	RNF170	OMIM:619686
HP:0001332	Dystonia	387119	CEP85L	OMIM:618873
HP:0001332	Dystonia	64221	ROBO3	OMIM:607313
HP:0001332	Dystonia	343641	TGM6	OMIM:613908
HP:0001332	Dystonia	343641	TGM6	ORPHA:276193
HP:0001332	Dystonia	8260	NAA10	OMIM:300855
HP:0001332	Dystonia	8260	NAA10	ORPHA:276432
HP:0001332	Dystonia	54834	GDAP2	OMIM:618369
HP:0001332	Dystonia	7703	PCGF2	OMIM:618371
HP:0001332	Dystonia	10935	PRDX3	OMIM:619862
HP:0001332	Dystonia	2313	FLI1	ORPHA:370348
HP:0001332	Dystonia	8558	CDK10	OMIM:617694
HP:0001332	Dystonia	3098	HK1	OMIM:618547
HP:0001332	Dystonia	3748	KCNC3	ORPHA:98768
HP:0001332	Dystonia	80036	TRPM3	OMIM:620224
HP:0001332	Dystonia	93986	FOXP2	ORPHA:251061
HP:0001332	Dystonia	11198	SUPT16H	OMIM:619480
HP:0001332	Dystonia	79796	ALG9	ORPHA:79328
HP:0001332	Dystonia	78989	COLEC11	OMIM:265050
HP:0001332	Dystonia	128240	NAXE	OMIM:617186
HP:0001332	Dystonia	4617	MYF5	OMIM:618155
HP:0001332	Dystonia	23187	PHLDB1	OMIM:620639
HP:0001332	Dystonia	6663	SOX10	OMIM:609136
HP:0001332	Dystonia	126792	B3GALT6	ORPHA:536467
HP:0001332	Dystonia	2898	GRIK2	OMIM:611092
HP:0001332	Dystonia	8831	SYNGAP1	OMIM:612621
HP:0001332	Dystonia	3679	ITGA7	OMIM:613204
HP:0001332	Dystonia	7042	TGFB2	OMIM:614816
HP:0001332	Dystonia	59341	TRPV4	OMIM:181405
HP:0001332	Dystonia	57167	SALL4	ORPHA:233
HP:0001332	Dystonia	9935	MAFB	ORPHA:233
HP:0001332	Dystonia	1123	CHN1	ORPHA:233
HP:0001332	Dystonia	7291	TWIST1	ORPHA:794
HP:0001332	Dystonia	2263	FGFR2	ORPHA:794
HP:0001332	Dystonia	2261	FGFR3	ORPHA:794
HP:0001332	Dystonia	1816	DRD5	OMIM:606798
HP:0001332	Dystonia	10815	CPLX1	ORPHA:352582
HP:0001332	Dystonia	3339	HSPG2	ORPHA:800
HP:0001332	Dystonia	84172	POLR1B	ORPHA:861
HP:0001332	Dystonia	9533	POLR1C	ORPHA:861
HP:0001332	Dystonia	51082	POLR1D	ORPHA:861
HP:0001332	Dystonia	6949	TCOF1	ORPHA:861
HP:0001332	Dystonia	56910	STARD7	OMIM:607876
HP:0001332	Dystonia	1545	CYP1B1	ORPHA:98976
HP:0001332	Dystonia	4053	LTBP2	ORPHA:98976
HP:0001332	Dystonia	4653	MYOC	ORPHA:98976
HP:0001332	Dystonia	7010	TEK	ORPHA:98976
HP:0001332	Dystonia	4070	TACSTD2	ORPHA:98957
HP:0001332	Dystonia	3208	HPCA	OMIM:224500
HP:0001332	Dystonia	3208	HPCA	ORPHA:99657
HP:0001332	Dystonia	3064	HTT	ORPHA:399
HP:0001332	Dystonia	3064	HTT	OMIM:617435
HP:0001332	Dystonia	3064	HTT	ORPHA:248111
HP:0001332	Dystonia	6515	SLC2A3	ORPHA:399
HP:0001332	Dystonia	7528	YY1	ORPHA:506358
HP:0001332	Dystonia	7528	YY1	OMIM:617557
HP:0001332	Dystonia	875	CBS	ORPHA:394
HP:0001332	Dystonia	4287	ATXN3	OMIM:109150
HP:0001332	Dystonia	4287	ATXN3	OMIM:168600
HP:0001332	Dystonia	4287	ATXN3	ORPHA:276238
HP:0001332	Dystonia	4287	ATXN3	ORPHA:276244
HP:0001332	Dystonia	4287	ATXN3	ORPHA:276241
HP:0001332	Dystonia	55703	POLR3B	OMIM:614381
HP:0001332	Dystonia	55703	POLR3B	OMIM:607694
HP:0001332	Dystonia	26235	FBXL4	OMIM:615471
HP:0001332	Dystonia	8367	H4C5	OMIM:619950
HP:0001332	Dystonia	6834	SURF1	OMIM:616684
HP:0001332	Dystonia	2775	GNAO1	OMIM:615473
HP:0001332	Dystonia	2775	GNAO1	ORPHA:1934
HP:0001332	Dystonia	2775	GNAO1	OMIM:617493
HP:0001332	Dystonia	51569	UFM1	OMIM:617899
HP:0001332	Dystonia	23446	SLC44A1	OMIM:618868
HP:0001332	Dystonia	60684	TRAPPC11	OMIM:615356
HP:0001332	Dystonia	9231	DLG5	OMIM:620703
HP:0001332	Dystonia	11284	PNKP	ORPHA:459033
HP:0001332	Dystonia	11284	PNKP	OMIM:616267
HP:0001332	Dystonia	11284	PNKP	ORPHA:1934
HP:0001332	Dystonia	84942	WDR73	OMIM:251300
HP:0001332	Dystonia	57165	GJC2	OMIM:608804
HP:0001332	Dystonia	4535	MT-ND1	ORPHA:255210
HP:0001332	Dystonia	4535	MT-ND1	OMIM:535000
HP:0001332	Dystonia	4536	MT-ND2	ORPHA:255210
HP:0001332	Dystonia	4536	MT-ND2	OMIM:535000
HP:0001332	Dystonia	4537	MT-ND3	ORPHA:255210
HP:0001332	Dystonia	4538	MT-ND4	ORPHA:255210
HP:0001332	Dystonia	4538	MT-ND4	OMIM:535000
HP:0001332	Dystonia	4567	MT-TL1	ORPHA:255210
HP:0001332	Dystonia	4578	MT-TW	ORPHA:255210
HP:0001332	Dystonia	4577	MT-TV	ORPHA:255210
HP:0001332	Dystonia	4508	MT-ATP6	ORPHA:255210
HP:0001332	Dystonia	4508	MT-ATP6	OMIM:535000
HP:0001332	Dystonia	4508	MT-ATP6	ORPHA:225154
HP:0001332	Dystonia	4508	MT-ATP6	ORPHA:254913
HP:0001332	Dystonia	4540	MT-ND5	ORPHA:255210
HP:0001332	Dystonia	4540	MT-ND5	OMIM:535000
HP:0001332	Dystonia	4541	MT-ND6	ORPHA:255210
HP:0001332	Dystonia	4541	MT-ND6	OMIM:535000
HP:0001332	Dystonia	4566	MT-TK	ORPHA:255210
HP:0001332	Dystonia	2593	GAMT	ORPHA:382
HP:0001332	Dystonia	3074	HEXB	ORPHA:309169
HP:0001332	Dystonia	65993	MRPS34	OMIM:617664
HP:0001332	Dystonia	5917	RARS1	ORPHA:438114
HP:0001332	Dystonia	5917	RARS1	OMIM:616140
HP:0001332	Dystonia	1644	DDC	ORPHA:35708
HP:0001332	Dystonia	56997	COQ8A	ORPHA:139485
HP:0001332	Dystonia	387787	LIPT2	OMIM:617668
HP:0001332	Dystonia	4137	MAPT	ORPHA:240085
HP:0001332	Dystonia	4137	MAPT	ORPHA:240071
HP:0001332	Dystonia	4137	MAPT	OMIM:168600
HP:0001332	Dystonia	472	ATM	OMIM:208900
HP:0001332	Dystonia	5610	EIF2AK2	OMIM:618877
HP:0001332	Dystonia	5610	EIF2AK2	OMIM:619687
HP:0001332	Dystonia	57156	TMEM63C	OMIM:619966
HP:0001332	Dystonia	3781	KCNN2	OMIM:619724
HP:0001332	Dystonia	3781	KCNN2	OMIM:619725
HP:0001332	Dystonia	51112	TRAPPC12	OMIM:617669
HP:0001332	Dystonia	51112	TRAPPC12	ORPHA:500144
HP:0001332	Dystonia	55768	NGLY1	ORPHA:404454
HP:0001332	Dystonia	23400	ATP13A2	ORPHA:314632
HP:0001332	Dystonia	23400	ATP13A2	ORPHA:513436
HP:0001332	Dystonia	23400	ATP13A2	OMIM:606693
HP:0001332	Dystonia	2192	FBLN1	ORPHA:404451
HP:0001332	Dystonia	410	ARSA	ORPHA:309271
HP:0001332	Dystonia	410	ARSA	ORPHA:309263
HP:0001332	Dystonia	410	ARSA	OMIM:250100
HP:0001332	Dystonia	410	ARSA	ORPHA:309256
HP:0001332	Dystonia	5660	PSAP	ORPHA:309271
HP:0001332	Dystonia	5660	PSAP	ORPHA:309263
HP:0001332	Dystonia	5660	PSAP	ORPHA:309256
HP:0001332	Dystonia	5660	PSAP	ORPHA:139406
HP:0001332	Dystonia	348	APOE	OMIM:607822
HP:0001332	Dystonia	5663	PSEN1	OMIM:607822
HP:0001332	Dystonia	103	ADAR	OMIM:615010
HP:0001332	Dystonia	103	ADAR	ORPHA:225154
HP:0001332	Dystonia	103	ADAR	ORPHA:51
HP:0001332	Dystonia	7343	UBTF	OMIM:617672
HP:0001332	Dystonia	7343	UBTF	ORPHA:500180
HP:0001332	Dystonia	6844	VAMP2	OMIM:618760
HP:0001332	Dystonia	79029	AFG2B	OMIM:619616
HP:0001332	Dystonia	10352	WARS2	OMIM:619738
HP:0001332	Dystonia	10352	WARS2	OMIM:617710
HP:0001332	Dystonia	10381	TUBB3	ORPHA:300570
HP:0001332	Dystonia	7994	KAT6A	ORPHA:457193
HP:0001332	Dystonia	7994	KAT6A	OMIM:616268
HP:0001332	Dystonia	170825	GSX2	OMIM:618646
HP:0001332	Dystonia	8560	DEGS1	OMIM:618404
HP:0001332	Dystonia	6513	SLC2A1	OMIM:601042
HP:0001332	Dystonia	6513	SLC2A1	ORPHA:53583
HP:0001332	Dystonia	6513	SLC2A1	ORPHA:98811
HP:0001332	Dystonia	6513	SLC2A1	ORPHA:71277
HP:0001332	Dystonia	6513	SLC2A1	OMIM:612126
HP:0001332	Dystonia	10939	AFG3L2	ORPHA:313772
HP:0001332	Dystonia	10939	AFG3L2	ORPHA:101109
HP:0001332	Dystonia	10939	AFG3L2	OMIM:610246
HP:0001332	Dystonia	10939	AFG3L2	OMIM:614487
HP:0001332	Dystonia	6872	TAF1	ORPHA:480907
HP:0001332	Dystonia	6872	TAF1	OMIM:300966
HP:0001332	Dystonia	84504	NKX6-2	OMIM:617560
HP:0001332	Dystonia	84504	NKX6-2	ORPHA:527497
HP:0001332	Dystonia	23312	DMXL2	OMIM:616113
HP:0001332	Dystonia	23312	DMXL2	ORPHA:453533
HP:0001332	Dystonia	23312	DMXL2	ORPHA:1934
HP:0001332	Dystonia	83636	C19orf12	OMIM:614298
HP:0001332	Dystonia	833	CARS1	OMIM:618891
HP:0001332	Dystonia	5813	PURA	ORPHA:438216
HP:0001332	Dystonia	51271	UBAP1	OMIM:618418
HP:0001332	Dystonia	54840	APTX	OMIM:208920
HP:0001332	Dystonia	54832	VPS13C	ORPHA:2828
HP:0001332	Dystonia	11315	PARK7	ORPHA:2828
HP:0001332	Dystonia	7345	UCHL1	ORPHA:2828
HP:0001332	Dystonia	27429	HTRA2	ORPHA:2828
HP:0001332	Dystonia	27429	HTRA2	OMIM:617248
HP:0001332	Dystonia	120892	LRRK2	ORPHA:2828
HP:0001332	Dystonia	120892	LRRK2	ORPHA:411602
HP:0001332	Dystonia	9829	DNAJC6	ORPHA:2828
HP:0001332	Dystonia	9829	DNAJC6	ORPHA:391411
HP:0001332	Dystonia	9829	DNAJC6	OMIM:615528
HP:0001332	Dystonia	6622	SNCA	ORPHA:2828
HP:0001332	Dystonia	6622	SNCA	OMIM:168601
HP:0001332	Dystonia	6622	SNCA	ORPHA:171695
HP:0001332	Dystonia	6622	SNCA	ORPHA:411602
HP:0001332	Dystonia	5420	PODXL	ORPHA:2828
HP:0001332	Dystonia	5420	PODXL	ORPHA:391411
HP:0001332	Dystonia	65018	PINK1	ORPHA:2828
HP:0001332	Dystonia	65018	PINK1	OMIM:605909
HP:0001332	Dystonia	8867	SYNJ1	ORPHA:2828
HP:0001332	Dystonia	8867	SYNJ1	OMIM:617389
HP:0001332	Dystonia	8867	SYNJ1	ORPHA:391411
HP:0001332	Dystonia	8867	SYNJ1	OMIM:615530
HP:0001332	Dystonia	5071	PRKN	ORPHA:2828
HP:0001332	Dystonia	5071	PRKN	OMIM:600116
HP:0001332	Dystonia	284439	SLC25A42	OMIM:618416
HP:0001332	Dystonia	26834	RNU4-2	OMIM:620851
HP:0001332	Dystonia	8398	PLA2G6	ORPHA:199351
HP:0001332	Dystonia	8398	PLA2G6	OMIM:612953
HP:0001332	Dystonia	8398	PLA2G6	OMIM:610217
HP:0001332	Dystonia	8398	PLA2G6	ORPHA:35069
HP:0001332	Dystonia	113612	CYP2U1	OMIM:615030
HP:0001332	Dystonia	113612	CYP2U1	ORPHA:320411
HP:0001332	Dystonia	10717	AP4B1	OMIM:614066
HP:0001332	Dystonia	10717	AP4B1	ORPHA:280763
HP:0001332	Dystonia	27089	UQCRQ	OMIM:615159
HP:0001332	Dystonia	55280	CWF19L1	OMIM:616127
HP:0001332	Dystonia	55280	CWF19L1	ORPHA:453521
HP:0001332	Dystonia	54902	TTC19	OMIM:615157
HP:0001332	Dystonia	7701	ZNF142	OMIM:618425
HP:0001332	Dystonia	2643	GCH1	OMIM:233910
HP:0001332	Dystonia	2643	GCH1	OMIM:128230
HP:0001332	Dystonia	4191	MDH2	OMIM:617339
HP:0001332	Dystonia	150468	CKAP2L	OMIM:272440
HP:0001332	Dystonia	5354	PLP1	ORPHA:280219
HP:0001332	Dystonia	5354	PLP1	OMIM:312080
HP:0001332	Dystonia	111	ADCY5	OMIM:606703
HP:0001332	Dystonia	111	ADCY5	OMIM:619647
HP:0001332	Dystonia	111	ADCY5	ORPHA:324588
HP:0001332	Dystonia	111	ADCY5	OMIM:619651
HP:0001332	Dystonia	54828	BCAS3	OMIM:619641
HP:0001332	Dystonia	79991	STN1	OMIM:617341
HP:0001332	Dystonia	7358	UGDH	OMIM:618792
HP:0001332	Dystonia	2720	GLB1	OMIM:230650
HP:0001332	Dystonia	2904	GRIN2B	OMIM:616139
HP:0001332	Dystonia	2904	GRIN2B	OMIM:613970
HP:0001332	Dystonia	6621	SNAPC4	OMIM:620515
HP:0001332	Dystonia	1356	CP	ORPHA:48818
HP:0001332	Dystonia	57462	MYORG	OMIM:618317
HP:0001332	Dystonia	7841	MOGS	ORPHA:79330
HP:0001332	Dystonia	540	ATP7B	OMIM:277900
HP:0001332	Dystonia	540	ATP7B	ORPHA:905
HP:0001332	Dystonia	10667	FARS2	ORPHA:466722
HP:0001332	Dystonia	55739	NAXD	OMIM:618321
HP:0001332	Dystonia	7143	TNR	OMIM:619653
HP:0001332	Dystonia	85365	ALG2	OMIM:607906
HP:0001332	Dystonia	10463	SLC30A9	OMIM:617595
HP:0001332	Dystonia	57679	ALS2	OMIM:205100
HP:0001332	Dystonia	57679	ALS2	ORPHA:300605
HP:0001332	Dystonia	3785	KCNQ2	ORPHA:439218
HP:0001332	Dystonia	3785	KCNQ2	OMIM:613720
HP:0001332	Dystonia	10195	ALG3	ORPHA:79321
HP:0001332	Dystonia	6843	VAMP1	ORPHA:251282
HP:0001332	Dystonia	6843	VAMP1	OMIM:108600
HP:0001332	Dystonia	57192	MCOLN1	OMIM:252650
HP:0001332	Dystonia	85300	ATCAY	OMIM:601238
HP:0001332	Dystonia	2512	FTL	ORPHA:157846
HP:0001332	Dystonia	2512	FTL	OMIM:606159
HP:0001332	Dystonia	6812	STXBP1	ORPHA:599373
HP:0001332	Dystonia	2629	GBA1	ORPHA:77260
HP:0001332	Dystonia	2629	GBA1	OMIM:168600
HP:0001332	Dystonia	2629	GBA1	ORPHA:411602
HP:0001332	Dystonia	25970	SH2B1	ORPHA:261197
HP:0001332	Dystonia	10533	ATG7	OMIM:619422
HP:0001332	Dystonia	51645	PPIL1	OMIM:619301
HP:0001332	Dystonia	51362	CDC40	OMIM:619302
HP:0001332	Dystonia	81570	CLPB	OMIM:616271
HP:0001332	Dystonia	79734	KCTD17	OMIM:616398
HP:0001332	Dystonia	79734	KCTD17	ORPHA:36899
HP:0001332	Dystonia	1892	ECHS1	OMIM:616277
HP:0001332	Dystonia	51117	COQ4	OMIM:616276
HP:0001332	Dystonia	16	AARS1	OMIM:619661
HP:0001332	Dystonia	133686	NADK2	OMIM:616034
HP:0001332	Dystonia	133686	NADK2	ORPHA:431361
HP:0001332	Dystonia	3658	IREB2	OMIM:618451
HP:0001332	Dystonia	171546	SPTSSA	OMIM:620416
HP:0001332	Dystonia	171546	SPTSSA	OMIM:620417
HP:0001332	Dystonia	2583	B4GALNT1	OMIM:609195
HP:0001332	Dystonia	2583	B4GALNT1	ORPHA:101006
HP:0001332	Dystonia	6709	SPTAN1	OMIM:620538
HP:0001332	Dystonia	6857	SYT1	OMIM:618218
HP:0001332	Dystonia	6857	SYT1	ORPHA:522077
HP:0001332	Dystonia	140679	SLC32A1	OMIM:620774
HP:0001332	Dystonia	140679	SLC32A1	ORPHA:1934
HP:0001332	Dystonia	4514	MT-CO3	OMIM:535000
HP:0001332	Dystonia	4519	MT-CYB	OMIM:535000
HP:0001332	Dystonia	4539	MT-ND4L	OMIM:535000
HP:0001332	Dystonia	6792	CDKL5	ORPHA:1934
HP:0001332	Dystonia	6792	CDKL5	ORPHA:3095
HP:0001332	Dystonia	6792	CDKL5	ORPHA:505652
HP:0001332	Dystonia	3736	KCNA1	ORPHA:1934
HP:0001332	Dystonia	3736	KCNA1	ORPHA:98809
HP:0001332	Dystonia	9091	PIGQ	ORPHA:1934
HP:0001332	Dystonia	81603	TRIM8	ORPHA:1934
HP:0001332	Dystonia	2902	GRIN1	ORPHA:1934
HP:0001332	Dystonia	2902	GRIN1	ORPHA:208447
HP:0001332	Dystonia	2902	GRIN1	OMIM:617820
HP:0001332	Dystonia	2902	GRIN1	OMIM:614254
HP:0001332	Dystonia	79751	SLC25A22	ORPHA:1934
HP:0001332	Dystonia	150094	SIK1	ORPHA:1934
HP:0001332	Dystonia	8573	CASK	ORPHA:1934
HP:0001332	Dystonia	8573	CASK	ORPHA:163937
HP:0001332	Dystonia	2917	GRM7	ORPHA:1934
HP:0001332	Dystonia	170302	ARX	ORPHA:1934
HP:0001332	Dystonia	170302	ARX	OMIM:308350
HP:0001332	Dystonia	6326	SCN2A	ORPHA:1934
HP:0001332	Dystonia	6326	SCN2A	OMIM:618924
HP:0001332	Dystonia	51227	PIGP	ORPHA:1934
HP:0001332	Dystonia	6324	SCN1B	ORPHA:1934
HP:0001332	Dystonia	4761	NEUROD2	ORPHA:1934
HP:0001332	Dystonia	7080	NKX2-1	OMIM:610978
HP:0001332	Dystonia	7080	NKX2-1	ORPHA:209905
HP:0001332	Dystonia	4594	MMUT	ORPHA:79312
HP:0001332	Dystonia	4594	MMUT	ORPHA:289916
HP:0001332	Dystonia	435	ASL	ORPHA:23
HP:0001332	Dystonia	2639	GCDH	ORPHA:25
HP:0001332	Dystonia	2639	GCDH	OMIM:231670
HP:0001332	Dystonia	10059	DNM1L	ORPHA:330050
HP:0001332	Dystonia	4728	NDUFS8	OMIM:618222
HP:0001332	Dystonia	79876	UBA5	OMIM:617132
HP:0001332	Dystonia	374291	NDUFS7	OMIM:618224
HP:0001332	Dystonia	23516	SLC39A14	OMIM:617013
HP:0001332	Dystonia	23516	SLC39A14	ORPHA:521406
HP:0001332	Dystonia	51728	POLR3K	OMIM:619310
HP:0001332	Dystonia	2495	FTH1	OMIM:620669
HP:0001332	Dystonia	4719	NDUFS1	OMIM:618226
HP:0001332	Dystonia	4967	OGDH	OMIM:203740
HP:0001332	Dystonia	2653	GCSH	OMIM:620423
HP:0001332	Dystonia	6323	SCN1A	OMIM:619317
HP:0001332	Dystonia	79903	NAA60	OMIM:620786
HP:0001332	Dystonia	7415	VCP	OMIM:167320
HP:0001332	Dystonia	4143	MAT1A	OMIM:250850
HP:0001332	Dystonia	5428	POLG	OMIM:258450
HP:0001332	Dystonia	5428	POLG	ORPHA:254881
HP:0001332	Dystonia	84320	ACBD6	OMIM:620785
HP:0001332	Dystonia	10102	TSFM	OMIM:610505
HP:0001332	Dystonia	22854	NTNG1	ORPHA:3095
HP:0001332	Dystonia	9568	GABBR2	ORPHA:3095
HP:0001332	Dystonia	9568	GABBR2	OMIM:617903
HP:0001332	Dystonia	4204	MECP2	ORPHA:3095
HP:0001332	Dystonia	4204	MECP2	ORPHA:778
HP:0001332	Dystonia	4204	MECP2	OMIM:312750
HP:0001332	Dystonia	4204	MECP2	OMIM:300055
HP:0001332	Dystonia	8243	SMC1A	ORPHA:3095
HP:0001332	Dystonia	26275	HIBCH	ORPHA:88639
HP:0001332	Dystonia	26275	HIBCH	OMIM:250620
HP:0001332	Dystonia	11277	TREX1	OMIM:225750
HP:0001332	Dystonia	11277	TREX1	ORPHA:51
HP:0001332	Dystonia	56521	DNAJC12	OMIM:617384
HP:0001332	Dystonia	478	ATP1A3	OMIM:601338
HP:0001332	Dystonia	478	ATP1A3	OMIM:614820
HP:0001332	Dystonia	478	ATP1A3	OMIM:128235
HP:0001332	Dystonia	478	ATP1A3	ORPHA:1171
HP:0001332	Dystonia	478	ATP1A3	ORPHA:2131
HP:0001332	Dystonia	64801	ARV1	OMIM:617020
HP:0001332	Dystonia	518	ATP5MC3	OMIM:619681
HP:0001332	Dystonia	57520	HECW2	OMIM:617268
HP:0001332	Dystonia	51601	LIPT1	OMIM:616299
HP:0001332	Dystonia	4722	NDUFS3	OMIM:618230
HP:0001332	Dystonia	8878	SQSTM1	OMIM:617145
HP:0001332	Dystonia	29078	NDUFAF4	OMIM:618237
HP:0001332	Dystonia	79133	NDUFAF5	OMIM:618238
HP:0001332	Dystonia	137682	NDUFAF6	OMIM:618239
HP:0001332	Dystonia	11152	WDR45	ORPHA:329284
HP:0001332	Dystonia	11152	WDR45	OMIM:300894
HP:0001332	Dystonia	25885	POLR1A	OMIM:620675
HP:0001332	Dystonia	6904	TBCD	ORPHA:496641
HP:0001332	Dystonia	55967	NDUFA12	OMIM:618244
HP:0001332	Dystonia	23221	RHOBTB2	OMIM:618004
HP:0001332	Dystonia	4704	NDUFA9	OMIM:618247
HP:0001332	Dystonia	29978	UBQLN2	OMIM:300857
HP:0001332	Dystonia	6334	SCN8A	OMIM:618364
HP:0001332	Dystonia	6334	SCN8A	ORPHA:31709
HP:0001332	Dystonia	51704	GPRC5B	OMIM:620447
HP:0001332	Dystonia	361	AQP4	OMIM:620448
HP:0001332	Dystonia	549	AUH	OMIM:250950
HP:0001332	Dystonia	549	AUH	ORPHA:67046
HP:0001332	Dystonia	4864	NPC1	OMIM:257220
HP:0001332	Dystonia	5805	PTS	ORPHA:13
HP:0001332	Dystonia	5805	PTS	OMIM:261640
HP:0001332	Dystonia	51102	MECR	OMIM:617282
HP:0001332	Dystonia	51102	MECR	ORPHA:508093
HP:0001332	Dystonia	774	CACNA1B	OMIM:618497
HP:0001332	Dystonia	6390	SDHB	OMIM:619224
HP:0001332	Dystonia	9757	KMT2B	OMIM:617284
HP:0001332	Dystonia	8802	SUCLG1	ORPHA:17
HP:0001332	Dystonia	5277	PIGA	OMIM:300868
HP:0001332	Dystonia	8635	RNASET2	OMIM:612951
HP:0001332	Dystonia	6697	SPR	OMIM:612716
HP:0001332	Dystonia	6697	SPR	ORPHA:70594
HP:0001332	Dystonia	64864	RFX7	OMIM:620330
HP:0001332	Dystonia	3028	HSD17B10	ORPHA:391428
HP:0001332	Dystonia	8943	AP3D1	OMIM:617050
HP:0001332	Dystonia	55697	VAC14	OMIM:617054
HP:0001332	Dystonia	23316	CUX2	OMIM:618141
HP:0001332	Dystonia	6711	SPTBN1	OMIM:619475
HP:0001332	Dystonia	4361	MRE11	ORPHA:251347
HP:0001332	Dystonia	4361	MRE11	OMIM:604391
HP:0001332	Dystonia	92935	MARS2	ORPHA:314603
HP:0001332	Dystonia	92935	MARS2	OMIM:611390
HP:0001332	Dystonia	215	ABCD1	ORPHA:369942
HP:0001332	Dystonia	10134	BCAP31	ORPHA:369942
HP:0001332	Dystonia	10134	BCAP31	OMIM:300475
HP:0001332	Dystonia	55210	ATAD3A	OMIM:617183
HP:0001332	Dystonia	2571	GAD1	OMIM:619124
HP:0001332	Dystonia	100147744	RNU7-1	OMIM:619487
HP:0001332	Dystonia	100147744	RNU7-1	ORPHA:51
HP:0001332	Dystonia	7504	XK	OMIM:300842
HP:0001332	Dystonia	374354	NHLRC2	OMIM:618278
HP:0001332	Dystonia	2760	GM2A	ORPHA:309246
HP:0001332	Dystonia	2760	GM2A	OMIM:272750
HP:0001332	Dystonia	23230	VPS13A	OMIM:200150
HP:0001332	Dystonia	84340	GFM2	OMIM:618397
HP:0001332	Dystonia	23287	AGTPBP1	OMIM:618276
HP:0001332	Dystonia	9373	PLAA	ORPHA:521426
HP:0001332	Dystonia	539	ATP5PO	OMIM:620359
HP:0001332	Dystonia	498	ATP5F1A	OMIM:620358
HP:0001332	Dystonia	498	ATP5F1A	ORPHA:254913
HP:0001332	Dystonia	1893	ECM1	ORPHA:530
HP:0001332	Dystonia	25978	CHMP2B	OMIM:600795
HP:0001332	Dystonia	23636	NUP62	ORPHA:225154
HP:0001332	Dystonia	23636	NUP62	OMIM:271930
HP:0001332	Dystonia	53371	NUP54	ORPHA:225154
HP:0001332	Dystonia	6571	SLC18A2	OMIM:618049
HP:0001332	Dystonia	6571	SLC18A2	ORPHA:352649
HP:0001332	Dystonia	3739	KCNA4	OMIM:618284
HP:0001332	Dystonia	777	CACNA1E	OMIM:618285
HP:0001332	Dystonia	1315	COPB1	OMIM:619255
HP:0001332	Dystonia	2733	GLE1	OMIM:611890
HP:0001332	Dystonia	727676	SNORD118	ORPHA:542310
HP:0001332	Dystonia	727676	SNORD118	OMIM:614561
HP:0001332	Dystonia	131118	DNAJC19	ORPHA:66634
HP:0001332	Dystonia	256472	TMEM151A	OMIM:620245
HP:0001332	Dystonia	10295	BCKDK	OMIM:614923
HP:0001332	Dystonia	81615	TMEM163	OMIM:620243
HP:0001332	Dystonia	124454	EARS2	OMIM:614924
HP:0001332	Dystonia	84153	RNASEH2C	OMIM:610329
HP:0001332	Dystonia	84153	RNASEH2C	ORPHA:51
HP:0001332	Dystonia	1678	TIMM8A	ORPHA:52368
HP:0001332	Dystonia	1678	TIMM8A	OMIM:304700
HP:0001332	Dystonia	80704	SLC19A3	ORPHA:263410
HP:0001332	Dystonia	80704	SLC19A3	OMIM:607483
HP:0001332	Dystonia	5860	QDPR	OMIM:261630
HP:0001332	Dystonia	25793	FBXO7	OMIM:260300
HP:0001332	Dystonia	25793	FBXO7	ORPHA:171695
HP:0001332	Dystonia	87178	PNPT1	OMIM:614932
HP:0001332	Dystonia	10535	RNASEH2A	OMIM:610333
HP:0001332	Dystonia	10535	RNASEH2A	ORPHA:51
HP:0001332	Dystonia	126	ADH1C	OMIM:168600
HP:0001332	Dystonia	4576	MT-TT	OMIM:168600
HP:0001332	Dystonia	9627	SNCAIP	OMIM:168600
HP:0001332	Dystonia	6908	TBP	OMIM:168600
HP:0001332	Dystonia	6908	TBP	OMIM:607136
HP:0001332	Dystonia	6908	TBP	ORPHA:98759
HP:0001332	Dystonia	4929	NR4A2	OMIM:168600
HP:0001332	Dystonia	4929	NR4A2	OMIM:619911
HP:0001332	Dystonia	6311	ATXN2	OMIM:168600
HP:0001332	Dystonia	6311	ATXN2	ORPHA:98756
HP:0001332	Dystonia	6315	ATXN8OS	OMIM:168600
HP:0001332	Dystonia	6315	ATXN8OS	ORPHA:98760
HP:0001332	Dystonia	161742	SPRED1	ORPHA:137605
HP:0001332	Dystonia	284111	SLC13A5	OMIM:615905
HP:0001332	Dystonia	6342	SCP2	OMIM:613724
HP:0001332	Dystonia	50640	PNPLA8	OMIM:251950
HP:0001332	Dystonia	1639	DCTN1	OMIM:168605
HP:0001332	Dystonia	90952	ESAM	OMIM:620371
HP:0001332	Dystonia	5138	PDE2A	OMIM:619150
HP:0001332	Dystonia	5138	PDE2A	ORPHA:31709
HP:0001332	Dystonia	27183	VPS4A	OMIM:619273
HP:0001332	Dystonia	10128	LRPPRC	OMIM:220111
HP:0001332	Dystonia	6535	SLC6A8	OMIM:300352
HP:0001332	Dystonia	6535	SLC6A8	ORPHA:52503
HP:0001332	Dystonia	26960	NBEA	OMIM:619157
HP:0001332	Dystonia	1183	CLCN4	OMIM:300114
HP:0001332	Dystonia	8506	CNTNAP1	OMIM:618186
HP:0001332	Dystonia	55532	SLC30A10	ORPHA:309854
HP:0001332	Dystonia	55532	SLC30A10	OMIM:613280
HP:0001332	Dystonia	25821	MTO1	OMIM:614702
HP:0001332	Dystonia	8496	PPFIBP1	OMIM:620024
HP:0001332	Dystonia	773	CACNA1A	OMIM:108500
HP:0001332	Dystonia	773	CACNA1A	ORPHA:97
HP:0001332	Dystonia	773	CACNA1A	ORPHA:2131
HP:0001332	Dystonia	773	CACNA1A	ORPHA:98758
HP:0001332	Dystonia	6531	SLC6A3	ORPHA:238455
HP:0001332	Dystonia	6531	SLC6A3	OMIM:613135
HP:0001332	Dystonia	9442	MED27	OMIM:619286
HP:0001332	Dystonia	6392	SDHD	OMIM:619167
HP:0001332	Dystonia	57465	TBC1D24	ORPHA:352596
HP:0001332	Dystonia	57465	TBC1D24	OMIM:615338
HP:0001332	Dystonia	1135	CHRNA2	OMIM:610353
HP:0001332	Dystonia	26580	BSCL2	OMIM:615924
HP:0001332	Dystonia	271	AMPD2	OMIM:615809
HP:0001332	Dystonia	3735	KARS1	ORPHA:3240
HP:0001332	Dystonia	3735	KARS1	OMIM:619196
HP:0001332	Dystonia	64601	VPS16	OMIM:619291
HP:0001332	Dystonia	4509	MT-ATP8	ORPHA:254913
HP:0001332	Dystonia	514	ATP5F1E	ORPHA:254913
HP:0001332	Dystonia	513	ATP5F1D	ORPHA:254913
HP:0001332	Dystonia	84833	ATP5MK	ORPHA:254913
HP:0001332	Dystonia	91647	ATPAF2	ORPHA:254913
HP:0001332	Dystonia	8913	CACNA1G	OMIM:618087
HP:0001332	Dystonia	64207	IRF2BPL	OMIM:618088
HP:0001332	Dystonia	6575	SLC20A2	OMIM:213600
HP:0001332	Dystonia	5159	PDGFRB	OMIM:213600
HP:0001332	Dystonia	5155	PDGFB	OMIM:213600
HP:0001332	Dystonia	23732	FRRS1L	ORPHA:725
HP:0001332	Dystonia	2903	GRIN2A	ORPHA:725
HP:0001332	Dystonia	54675	CRLS1	OMIM:620167
HP:0001332	Dystonia	5095	PCCA	OMIM:606054
HP:0001332	Dystonia	5096	PCCB	OMIM:606054
HP:0001332	Dystonia	10273	STUB1	OMIM:618093
HP:0001332	Dystonia	7274	TTPA	ORPHA:96
HP:0001332	Dystonia	7274	TTPA	OMIM:277460
HP:0001332	Dystonia	57531	HACE1	ORPHA:464282
HP:0001332	Dystonia	57531	HACE1	OMIM:616756
HP:0001332	Dystonia	10367	MICU1	ORPHA:401768
HP:0001332	Dystonia	10367	MICU1	OMIM:615673
HP:0001332	Dystonia	4697	NDUFA4	OMIM:619065
HP:0001332	Dystonia	10382	TUBB4A	OMIM:612438
HP:0001332	Dystonia	112476	PRRT2	ORPHA:98811
HP:0001332	Dystonia	112476	PRRT2	ORPHA:98810
HP:0001332	Dystonia	112476	PRRT2	ORPHA:31709
HP:0001332	Dystonia	112476	PRRT2	ORPHA:98809
HP:0001332	Dystonia	84947	SERAC1	OMIM:614739
HP:0001332	Dystonia	79152	FA2H	OMIM:612319
HP:0001332	Dystonia	57338	JPH3	ORPHA:98934
HP:0001332	Dystonia	57338	JPH3	OMIM:606438
HP:0001332	Dystonia	2395	FXN	ORPHA:95
HP:0001332	Dystonia	25953	PNKD	ORPHA:98810
HP:0001332	Dystonia	1267	CNP	OMIM:619071
HP:0001332	Dystonia	1593	CYP27A1	ORPHA:909
HP:0001332	Dystonia	23533	PIK3R5	ORPHA:64753
HP:0001332	Dystonia	23064	SETX	ORPHA:64753
HP:0001332	Dystonia	23064	SETX	OMIM:606002
HP:0001332	Dystonia	6507	SLC1A3	ORPHA:2131
HP:0001332	Dystonia	477	ATP1A2	ORPHA:2131
HP:0001332	Dystonia	477	ATP1A2	OMIM:104290
HP:0001332	Dystonia	146057	TTBK2	ORPHA:98767
HP:0001332	Dystonia	1282	COL4A1	OMIM:175780
HP:0001332	Dystonia	80025	PANK2	OMIM:234200
HP:0001332	Dystonia	11128	POLR3A	ORPHA:447896
HP:0001332	Dystonia	11128	POLR3A	OMIM:607694
HP:0001332	Dystonia	724066	ATXN8	ORPHA:98760
HP:0001332	Dystonia	1737	DLAT	OMIM:245348
HP:0001332	Dystonia	3251	HPRT1	OMIM:300322
HP:0001332	Dystonia	3251	HPRT1	ORPHA:79233
HP:0001332	Dystonia	8050	PDHX	OMIM:245349
HP:0001332	Dystonia	2521	FUS	ORPHA:300605
HP:0001332	Dystonia	80208	SPG11	ORPHA:300605
HP:0001332	Dystonia	10280	SIGMAR1	ORPHA:300605
HP:0001332	Dystonia	10558	SPTLC1	ORPHA:300605
HP:0001332	Dystonia	64135	IFIH1	OMIM:615846
HP:0001332	Dystonia	64135	IFIH1	ORPHA:51
HP:0001332	Dystonia	3708	ITPR1	OMIM:117360
HP:0001332	Dystonia	25828	TXN2	OMIM:616811
HP:0001332	Dystonia	6310	ATXN1	ORPHA:98755
HP:0001332	Dystonia	3187	HNRNPH1	OMIM:620083
HP:0001332	Dystonia	26047	CNTNAP2	OMIM:610042
HP:0001332	Dystonia	283989	TSEN54	OMIM:277470
HP:0001332	Dystonia	64116	SLC39A8	ORPHA:468699
HP:0001332	Dystonia	85021	REPS1	OMIM:617916
HP:0001332	Dystonia	84978	FRMD5	OMIM:620094
HP:0001332	Dystonia	6567	SLC16A2	ORPHA:59
HP:0001332	Dystonia	197322	ACSF3	ORPHA:289504
HP:0001332	Dystonia	80067	DCAF17	OMIM:241080
HP:0001332	Dystonia	57017	COQ9	OMIM:614654
HP:0001332	Dystonia	22907	DHX30	OMIM:617804
HP:0001332	Dystonia	10664	CTCF	OMIM:615502
HP:0001332	Dystonia	137492	VPS37A	OMIM:614898
HP:0001332	Dystonia	339453	TMEM240	OMIM:607454
HP:0001332	Dystonia	9230	RAB11B	OMIM:617807
HP:0001332	Dystonia	25939	SAMHD1	ORPHA:51
HP:0001332	Dystonia	79621	RNASEH2B	ORPHA:51
HP:0001332	Dystonia	79621	RNASEH2B	OMIM:610181
HP:0001332	Dystonia	134353	LSM11	ORPHA:51
HP:0001332	Dystonia	1738	DLD	OMIM:246900
HP:0001332	Dystonia	7167	TPI1	OMIM:615512
HP:0001332	Dystonia	2290	FOXG1	OMIM:613454
HP:0001332	Dystonia	27249	MMADHC	OMIM:277410
HP:0001332	Dystonia	91147	TMEM67	OMIM:216360
HP:0001332	Dystonia	55187	VPS13D	OMIM:607317
HP:0001332	Dystonia	1822	ATN1	OMIM:125370
HP:0001332	Dystonia	5160	PDHA1	OMIM:312170
HP:0001332	Dystonia	5160	PDHA1	ORPHA:79243
HP:0001332	Dystonia	80347	COASY	OMIM:615643
HP:0001332	Dystonia	2782	GNB1	OMIM:616973
HP:0001332	Dystonia	57505	AARS2	OMIM:615889
HP:0001332	Dystonia	55152	DALRD3	OMIM:618910
HP:0001332	Dystonia	3097	HIVEP2	OMIM:616977
HP:0001332	Dystonia	2561	GABRB2	OMIM:617829
HP:0001332	Dystonia	2891	GRIA2	OMIM:618917
HP:0001332	Dystonia	2592	GALT	ORPHA:79239
HP:0001332	Dystonia	55906	ZC4H2	OMIM:314580
HP:0001332	Dystonia	9512	PMPCB	OMIM:617954
HP:0001332	Dystonia	4358	MPV17	OMIM:256810
HP:0001332	Dystonia	2058	EPRS1	OMIM:617951
HP:0001332	Dystonia	79947	DHDDS	OMIM:617836
HP:0001332	Dystonia	80746	TSEN2	OMIM:612389
HP:0001332	Dystonia	23317	DNAJC13	ORPHA:411602
HP:0001332	Dystonia	1981	EIF4G1	ORPHA:411602
HP:0001332	Dystonia	55737	VPS35	ORPHA:411602
HP:0001332	Dystonia	26058	GIGYF2	ORPHA:411602
HP:0001332	Dystonia	9361	LONP1	ORPHA:79243
HP:0001332	Dystonia	128989	TANGO2	ORPHA:480864
HP:0001332	Dystonia	128989	TANGO2	OMIM:616878
HP:0001332	Dystonia	7050	TGIF1	OMIM:142946
HP:0001332	Dystonia	1813	DRD2	ORPHA:36899
HP:0001332	Dystonia	8910	SGCE	ORPHA:36899
HP:0001332	Dystonia	1861	TOR1A	ORPHA:36899
HP:0001332	Dystonia	1861	TOR1A	OMIM:618947
HP:0001332	Dystonia	79042	TSEN34	OMIM:612390
HP:0001332	Dystonia	23065	EMC1	OMIM:616875
HP:0001332	Dystonia	54664	TMEM106B	OMIM:617964
HP:0001332	Dystonia	27010	TPK1	OMIM:614458
HP:0001332	Dystonia	1213	CLTC	OMIM:617854
HP:0001332	Dystonia	2517	FUCA1	OMIM:230000
HP:0001332	Dystonia	64857	PLEKHG2	OMIM:616763
HP:0001332	Dystonia	4329	ALDH6A1	OMIM:614105
HP:0001332	Dystonia	55145	THAP1	ORPHA:98806
HP:0001332	Dystonia	8405	SPOP	OMIM:618829
HP:0001332	Dystonia	55164	SHQ1	OMIM:619921
HP:0001332	Dystonia	55164	SHQ1	OMIM:619922
HP:0001332	Dystonia	54676	GTPBP2	OMIM:617988
HP:0001332	Dystonia	100506658	OCLN	OMIM:251290
HP:0001332	Dystonia	51	ACOX1	OMIM:264470
HP:0001332	Dystonia	9179	AP4M1	ORPHA:280763
HP:0001332	Dystonia	11154	AP4S1	ORPHA:280763
HP:0001332	Dystonia	23431	AP4E1	ORPHA:280763
HP:0001332	Dystonia	10577	NPC2	OMIM:607625
HP:0001332	Dystonia	54802	TRIT1	OMIM:617873
HP:0001332	Dystonia	84631	SLITRK2	OMIM:301107
HP:0001332	Dystonia	51294	PCDH12	OMIM:251280
HP:0001332	Dystonia	9439	MED23	OMIM:614249
HP:0001332	Dystonia	8481	OFD1	ORPHA:2750
HP:0001332	Dystonia	3778	KCNMA1	OMIM:618729
HP:0001332	Dystonia	6389	SDHA	OMIM:252011
HP:0001332	Dystonia	51733	UPB1	OMIM:613161
HP:0001332	Dystonia	55331	ACER3	OMIM:617762
HP:0001332	Dystonia	8803	SUCLA2	OMIM:612073
HP:0001332	Dystonia	79587	CARS2	OMIM:616672
HP:0001332	Dystonia	35	ACADS	ORPHA:26792
HP:0001332	Dystonia	80169	CTC1	OMIM:612199
HP:0001332	Dystonia	5297	PI4KA	OMIM:619708
HP:0001332	Dystonia	1137	CHRNA4	ORPHA:98784
HP:0001332	Dystonia	57010	CABP4	ORPHA:98784
HP:0001332	Dystonia	1141	CHRNB2	ORPHA:98784
HP:0001332	Dystonia	57582	KCNT1	ORPHA:98784
HP:0001332	Dystonia	1392	CRH	ORPHA:98784
HP:0001332	Dystonia	9681	DEPDC5	ORPHA:98784
HP:0001332	Dystonia	116461	TSEN15	ORPHA:2524
HP:0001332	Dystonia	51091	SEPSECS	ORPHA:2524
HP:0001332	Dystonia	59336	PRDM13	OMIM:619909
HP:0001332	Dystonia	3094	HINT1	ORPHA:324442
HP:0001332	Dystonia	2767	GNA11	ORPHA:428
HP:0001332	Dystonia	846	CASR	ORPHA:428
HP:0001332	Dystonia	9997	SCO2	OMIM:604377
HP:0001332	Dystonia	2774	GNAL	OMIM:615073
HP:0001332	Dystonia	2774	GNAL	ORPHA:329466
HP:0001332	Dystonia	57680	CHD8	OMIM:615032
HP:0001332	Dystonia	58494	JAM2	OMIM:618824
HP:0001332	Dystonia	3615	IMPDH2	ORPHA:98808
HP:0001332	Dystonia	347734	SLC35B2	OMIM:620269
HP:0001332	Dystonia	55823	VPS11	OMIM:619637
HP:0001332	Dystonia	9256	TSPOAP1	ORPHA:101150
HP:0001332	Dystonia	7054	TH	ORPHA:101150
HP:0001332	Dystonia	7054	TH	OMIM:605407
HP:0001332	Dystonia	1528	CYB5A	ORPHA:621
HP:0001332	Dystonia	1727	CYB5R3	ORPHA:621
HP:0001332	Dystonia	9690	UBE3C	OMIM:620270
HP:0001332	Dystonia	26576	SRPK3	OMIM:301134
HP:0001332	Dystonia	90522	YIF1B	OMIM:619125
HP:0001332	Dystonia	1841	DTYMK	OMIM:619847
HP:0001332	Dystonia	1293	COL6A3	OMIM:616411
HP:0001332	Dystonia	1293	COL6A3	ORPHA:464440
HP:0001332	Dystonia	128486	FITM2	OMIM:618635
HP:0001332	Dystonia	63982	ANO3	ORPHA:420485
HP:0001332	Dystonia	8575	PRKRA	ORPHA:210571
HP:0001332	Dystonia	8575	PRKRA	OMIM:612067
HP:0001332	Dystonia	116228	COX20	OMIM:619054
HP:0001332	Dystonia	166378	AFG2A	ORPHA:457351
HP:0001332	Dystonia	2260	FGFR1	ORPHA:220386
HP:0001332	Dystonia	2260	FGFR1	ORPHA:93924
HP:0001332	Dystonia	28514	DLL1	ORPHA:220386
HP:0001332	Dystonia	28514	DLL1	ORPHA:93926
HP:0001332	Dystonia	28514	DLL1	ORPHA:93924
HP:0001332	Dystonia	28514	DLL1	ORPHA:93925
HP:0001332	Dystonia	10735	STAG2	ORPHA:220386
HP:0001332	Dystonia	10735	STAG2	ORPHA:93925
HP:0001332	Dystonia	2253	FGF8	ORPHA:220386
HP:0001332	Dystonia	2253	FGF8	ORPHA:93926
HP:0001332	Dystonia	2253	FGF8	ORPHA:93924
HP:0001332	Dystonia	2253	FGF8	ORPHA:93925
HP:0001332	Dystonia	6496	SIX3	ORPHA:220386
HP:0001332	Dystonia	6496	SIX3	ORPHA:93926
HP:0001332	Dystonia	6496	SIX3	ORPHA:93924
HP:0001332	Dystonia	6496	SIX3	ORPHA:93925
HP:0001332	Dystonia	4838	NODAL	ORPHA:220386
HP:0001332	Dystonia	4838	NODAL	ORPHA:93926
HP:0001332	Dystonia	4838	NODAL	ORPHA:93924
HP:0001332	Dystonia	4838	NODAL	ORPHA:93925
HP:0001332	Dystonia	6469	SHH	ORPHA:220386
HP:0001332	Dystonia	6469	SHH	ORPHA:93926
HP:0001332	Dystonia	6469	SHH	ORPHA:93924
HP:0001332	Dystonia	6469	SHH	ORPHA:93925
HP:0001332	Dystonia	7546	ZIC2	ORPHA:220386
HP:0001332	Dystonia	7546	ZIC2	ORPHA:93926
HP:0001332	Dystonia	7546	ZIC2	ORPHA:93924
HP:0001332	Dystonia	7546	ZIC2	ORPHA:93925
HP:0001332	Dystonia	6491	STIL	ORPHA:220386
HP:0001332	Dystonia	6491	STIL	ORPHA:93926
HP:0001332	Dystonia	6491	STIL	ORPHA:93924
HP:0001332	Dystonia	6491	STIL	ORPHA:93925
HP:0001332	Dystonia	2619	GAS1	ORPHA:220386
HP:0001332	Dystonia	2619	GAS1	ORPHA:93926
HP:0001332	Dystonia	2619	GAS1	ORPHA:93924
HP:0001332	Dystonia	2619	GAS1	ORPHA:93925
HP:0001332	Dystonia	84976	DISP1	ORPHA:220386
HP:0001332	Dystonia	84976	DISP1	ORPHA:93926
HP:0001332	Dystonia	84976	DISP1	ORPHA:93924
HP:0001332	Dystonia	84976	DISP1	ORPHA:93925
HP:0001332	Dystonia	2736	GLI2	ORPHA:220386
HP:0001332	Dystonia	2736	GLI2	ORPHA:93926
HP:0001332	Dystonia	2736	GLI2	ORPHA:93924
HP:0001332	Dystonia	2736	GLI2	ORPHA:93925
HP:0001332	Dystonia	8928	FOXH1	ORPHA:220386
HP:0001332	Dystonia	8928	FOXH1	ORPHA:93926
HP:0001332	Dystonia	8928	FOXH1	ORPHA:93924
HP:0001332	Dystonia	8928	FOXH1	ORPHA:93925
HP:0001332	Dystonia	6997	CRIPTO	ORPHA:220386
HP:0001332	Dystonia	6997	CRIPTO	ORPHA:93926
HP:0001332	Dystonia	6997	CRIPTO	ORPHA:93924
HP:0001332	Dystonia	6997	CRIPTO	ORPHA:93925
HP:0001332	Dystonia	5727	PTCH1	ORPHA:220386
HP:0001332	Dystonia	5727	PTCH1	ORPHA:93926
HP:0001332	Dystonia	5727	PTCH1	ORPHA:93924
HP:0001332	Dystonia	5727	PTCH1	ORPHA:93925
HP:0001332	Dystonia	50937	CDON	ORPHA:220386
HP:0001332	Dystonia	50937	CDON	ORPHA:93926
HP:0001332	Dystonia	50937	CDON	ORPHA:93924
HP:0001332	Dystonia	50937	CDON	ORPHA:93925
HP:0001332	Dystonia	23007	PLCH1	ORPHA:93925
HP:0001332	Dystonia	5521	PPP2R2B	OMIM:604326
HP:0001332	Dystonia	25792	CIZ1	ORPHA:420492
HP:0001332	Dystonia	84842	HPDL	OMIM:619026
HP:0001332	Dystonia	27235	COQ2	ORPHA:227510
HP:0001332	Dystonia	27235	COQ2	ORPHA:98933
HP:0001332	Dystonia	5832	ALDH18A1	ORPHA:447757
HP:0001332	Dystonia	5582	PRKCG	OMIM:605361
HP:0001332	Dystonia	6821	SUOX	OMIM:272300
HP:0001332	Dystonia	60	ACTB	ORPHA:79107
HP:0001332	Dystonia	60	ACTB	OMIM:607371
HP:0001332	Dystonia	64432	MRPS25	OMIM:619025
HP:0001332	Dystonia	84909	AOPEP	OMIM:619565
HP:0001332	Dystonia	27072	VPS41	OMIM:619389
HP:0001332	Dystonia	4695	NDUFA2	OMIM:618235
HP:0001332	Dystonia	51506	UFC1	OMIM:618076
HP:0001332	Dystonia	5092	PCBD1	ORPHA:1578
HP:0001332	Dystonia	9898	UBAP2L	OMIM:620494
HP:0001332	Dystonia	2778	GNAS	ORPHA:94089
HP:0001332	Dystonia	2778	GNAS	ORPHA:79443
HP:0001332	Dystonia	2778	GNAS	ORPHA:79444
HP:0001332	Dystonia	8675	STX16	ORPHA:94089
HP:0001332	Dystonia	4700	NDUFA6	OMIM:618253
HP:0001332	Dystonia	65055	REEP1	OMIM:620011
HP:0001332	Dystonia	55361	PI4K2A	OMIM:620732
HP:0001332	Dystonia	23345	SYNE1	ORPHA:88644
HP:0001332	Dystonia	51204	TACO1	OMIM:619052
HP:0001332	Dystonia	5575	PRKAR1B	OMIM:619680
HP:0000707	Abnormality of the nervous system	55630	SLC39A4	OMIM:201100
HP:0000707	Abnormality of the nervous system	7547	ZIC3	OMIM:314390
HP:0000707	Abnormality of the nervous system	7547	ZIC3	OMIM:306955
HP:0000707	Abnormality of the nervous system	6347	CCL2	OMIM:182940
HP:0000707	Abnormality of the nervous system	6862	TBXT	OMIM:182940
HP:0000707	Abnormality of the nervous system	8882	ZPR1	OMIM:619321
HP:0000707	Abnormality of the nervous system	79770	TXNDC15	ORPHA:564
HP:0000707	Abnormality of the nervous system	6913	TBX15	OMIM:260660
HP:0000707	Abnormality of the nervous system	5340	PLG	ORPHA:722
HP:0000707	Abnormality of the nervous system	5340	PLG	OMIM:217090
HP:0000707	Abnormality of the nervous system	7473	WNT3	ORPHA:3301
HP:0000707	Abnormality of the nervous system	7473	WNT3	OMIM:273395
HP:0000707	Abnormality of the nervous system	340419	RSPO2	ORPHA:3301
HP:0000707	Abnormality of the nervous system	1063	CENPF	OMIM:243605
HP:0000707	Abnormality of the nervous system	112752	IFT43	OMIM:617866
HP:0000707	Abnormality of the nervous system	54916	TMEM260	OMIM:617478
HP:0000707	Abnormality of the nervous system	54084	TSPEAR	OMIM:620173
HP:0000707	Abnormality of the nervous system	3675	ITGA3	OMIM:614748
HP:0000707	Abnormality of the nervous system	9837	GINS1	OMIM:617827
HP:0000707	Abnormality of the nervous system	79840	NHEJ1	ORPHA:169079
HP:0000707	Abnormality of the nervous system	1636	ACE	OMIM:267430
HP:0000707	Abnormality of the nervous system	183	AGT	OMIM:267430
HP:0000707	Abnormality of the nervous system	185	AGTR1	OMIM:267430
HP:0000707	Abnormality of the nervous system	5972	REN	OMIM:267430
HP:0000707	Abnormality of the nervous system	55997	CFC1	OMIM:605376
HP:0000707	Abnormality of the nervous system	6777	STAT5B	OMIM:618985
HP:0000707	Abnormality of the nervous system	286053	NSMCE2	OMIM:617253
HP:0000707	Abnormality of the nervous system	55599	RNPC3	OMIM:618160
HP:0000707	Abnormality of the nervous system	668	FOXL2	OMIM:110100
HP:0000707	Abnormality of the nervous system	5965	RECQL	OMIM:620370
HP:0000707	Abnormality of the nervous system	375748	ERCC6L2	OMIM:615715
HP:0000707	Abnormality of the nervous system	5429	POLH	OMIM:278750
HP:0000707	Abnormality of the nervous system	6938	TCF12	OMIM:619718
HP:0000707	Abnormality of the nervous system	4808	NHLH2	OMIM:619755
HP:0000707	Abnormality of the nervous system	84634	KISS1R	OMIM:614837
HP:0000707	Abnormality of the nervous system	26012	NSMF	OMIM:614838
HP:0000707	Abnormality of the nervous system	6866	TAC3	OMIM:614839
HP:0000707	Abnormality of the nervous system	415	ARSL	OMIM:302950
HP:0000707	Abnormality of the nervous system	3814	KISS1	OMIM:614842
HP:0000707	Abnormality of the nervous system	109	ADCY3	OMIM:617885
HP:0000707	Abnormality of the nervous system	25792	CIZ1	ORPHA:420492
HP:0000707	Abnormality of the nervous system	2774	GNAL	OMIM:615073
HP:0000707	Abnormality of the nervous system	2774	GNAL	ORPHA:329466
HP:0000707	Abnormality of the nervous system	55605	KIF21A	ORPHA:45358
HP:0000707	Abnormality of the nervous system	401	PHOX2A	ORPHA:45358
HP:0000707	Abnormality of the nervous system	1303	COL12A1	ORPHA:75840
HP:0000707	Abnormality of the nervous system	1292	COL6A2	ORPHA:75840
HP:0000707	Abnormality of the nervous system	1292	COL6A2	OMIM:620727
HP:0000707	Abnormality of the nervous system	1293	COL6A3	ORPHA:75840
HP:0000707	Abnormality of the nervous system	1293	COL6A3	OMIM:620728
HP:0000707	Abnormality of the nervous system	1293	COL6A3	OMIM:616411
HP:0000707	Abnormality of the nervous system	63982	ANO3	ORPHA:420485
HP:0000707	Abnormality of the nervous system	63982	ANO3	OMIM:615034
HP:0000707	Abnormality of the nervous system	116228	COX20	OMIM:619054
HP:0000707	Abnormality of the nervous system	7703	PCGF2	OMIM:618371
HP:0000707	Abnormality of the nervous system	1813	DRD2	ORPHA:36899
HP:0000707	Abnormality of the nervous system	8910	SGCE	ORPHA:36899
HP:0000707	Abnormality of the nervous system	8910	SGCE	OMIM:159900
HP:0000707	Abnormality of the nervous system	79734	KCTD17	ORPHA:36899
HP:0000707	Abnormality of the nervous system	79734	KCTD17	OMIM:616398
HP:0000707	Abnormality of the nervous system	1267	CNP	OMIM:619071
HP:0000707	Abnormality of the nervous system	3615	IMPDH2	ORPHA:98808
HP:0000707	Abnormality of the nervous system	55145	THAP1	ORPHA:98806
HP:0000707	Abnormality of the nervous system	55145	THAP1	OMIM:602629
HP:0000707	Abnormality of the nervous system	78989	COLEC11	OMIM:265050
HP:0000707	Abnormality of the nervous system	4617	MYF5	OMIM:618155
HP:0000707	Abnormality of the nervous system	23187	PHLDB1	OMIM:620639
HP:0000707	Abnormality of the nervous system	256472	TMEM151A	OMIM:620245
HP:0000707	Abnormality of the nervous system	7042	TGFB2	OMIM:614816
HP:0000707	Abnormality of the nervous system	220	ALDH1A3	OMIM:615113
HP:0000707	Abnormality of the nervous system	8854	ALDH1A2	OMIM:620025
HP:0000707	Abnormality of the nervous system	64121	RRAGC	OMIM:620609
HP:0000707	Abnormality of the nervous system	2296	FOXC1	ORPHA:250923
HP:0000707	Abnormality of the nervous system	54765	TRIM44	ORPHA:250923
HP:0000707	Abnormality of the nervous system	778	CACNA1F	OMIM:300476
HP:0000707	Abnormality of the nervous system	778	CACNA1F	ORPHA:1872
HP:0000707	Abnormality of the nervous system	4166	CHST6	ORPHA:98969
HP:0000707	Abnormality of the nervous system	4166	CHST6	OMIM:217800
HP:0000707	Abnormality of the nervous system	2780	GNAT2	OMIM:613856
HP:0000707	Abnormality of the nervous system	2780	GNAT2	ORPHA:1871
HP:0000707	Abnormality of the nervous system	2780	GNAT2	ORPHA:49382
HP:0000707	Abnormality of the nervous system	7045	TGFBI	ORPHA:98962
HP:0000707	Abnormality of the nervous system	7045	TGFBI	ORPHA:98964
HP:0000707	Abnormality of the nervous system	7045	TGFBI	ORPHA:98960
HP:0000707	Abnormality of the nervous system	7045	TGFBI	OMIM:608470
HP:0000707	Abnormality of the nervous system	7045	TGFBI	OMIM:602082
HP:0000707	Abnormality of the nervous system	6720	SREBF1	OMIM:158310
HP:0000707	Abnormality of the nervous system	6720	SREBF1	OMIM:619016
HP:0000707	Abnormality of the nervous system	1638	DCT	OMIM:619165
HP:0000707	Abnormality of the nervous system	26504	CNNM4	ORPHA:1873
HP:0000707	Abnormality of the nervous system	26504	CNNM4	OMIM:217080
HP:0000707	Abnormality of the nervous system	22926	ATF6	ORPHA:1872
HP:0000707	Abnormality of the nervous system	22926	ATF6	ORPHA:49382
HP:0000707	Abnormality of the nervous system	22926	ATF6	OMIM:616517
HP:0000707	Abnormality of the nervous system	84839	RAX2	ORPHA:1872
HP:0000707	Abnormality of the nervous system	84839	RAX2	OMIM:610381
HP:0000707	Abnormality of the nervous system	1261	CNGA3	ORPHA:1872
HP:0000707	Abnormality of the nervous system	1261	CNGA3	ORPHA:49382
HP:0000707	Abnormality of the nervous system	1261	CNGA3	OMIM:216900
HP:0000707	Abnormality of the nervous system	92211	CDHR1	ORPHA:1872
HP:0000707	Abnormality of the nervous system	92211	CDHR1	OMIM:613660
HP:0000707	Abnormality of the nervous system	92211	CDHR1	ORPHA:791
HP:0000707	Abnormality of the nervous system	5956	OPN1LW	ORPHA:1872
HP:0000707	Abnormality of the nervous system	5956	OPN1LW	OMIM:303700
HP:0000707	Abnormality of the nervous system	5956	OPN1LW	ORPHA:16
HP:0000707	Abnormality of the nervous system	8754	ADAM9	ORPHA:1872
HP:0000707	Abnormality of the nervous system	22999	RIMS1	ORPHA:1872
HP:0000707	Abnormality of the nervous system	128338	DRAM2	ORPHA:1872
HP:0000707	Abnormality of the nervous system	128338	DRAM2	OMIM:616502
HP:0000707	Abnormality of the nervous system	2652	OPN1MW	ORPHA:1872
HP:0000707	Abnormality of the nervous system	2652	OPN1MW	OMIM:303700
HP:0000707	Abnormality of the nervous system	2652	OPN1MW	ORPHA:16
HP:0000707	Abnormality of the nervous system	9094	UNC119	ORPHA:1872
HP:0000707	Abnormality of the nervous system	9094	UNC119	OMIM:620342
HP:0000707	Abnormality of the nervous system	93589	CACNA2D4	ORPHA:1872
HP:0000707	Abnormality of the nervous system	93589	CACNA2D4	OMIM:610478
HP:0000707	Abnormality of the nervous system	2978	GUCA1A	ORPHA:1872
HP:0000707	Abnormality of the nervous system	2978	GUCA1A	ORPHA:1871
HP:0000707	Abnormality of the nervous system	2978	GUCA1A	OMIM:602093
HP:0000707	Abnormality of the nervous system	282809	POC1B	ORPHA:1872
HP:0000707	Abnormality of the nervous system	83394	PITPNM3	ORPHA:1872
HP:0000707	Abnormality of the nervous system	83394	PITPNM3	OMIM:600977
HP:0000707	Abnormality of the nervous system	23093	TTLL5	ORPHA:1872
HP:0000707	Abnormality of the nervous system	83723	TLCD3B	ORPHA:1872
HP:0000707	Abnormality of the nervous system	83723	TLCD3B	OMIM:619531
HP:0000707	Abnormality of the nervous system	9364	RAB28	ORPHA:1872
HP:0000707	Abnormality of the nervous system	5146	PDE6C	ORPHA:1871
HP:0000707	Abnormality of the nervous system	5146	PDE6C	OMIM:613093
HP:0000707	Abnormality of the nervous system	5146	PDE6C	ORPHA:49382
HP:0000707	Abnormality of the nervous system	169522	KCNV2	OMIM:610356
HP:0000707	Abnormality of the nervous system	4070	TACSTD2	ORPHA:98957
HP:0000707	Abnormality of the nervous system	4070	TACSTD2	OMIM:204870
HP:0000707	Abnormality of the nervous system	200576	PIKFYVE	OMIM:121850
HP:0000707	Abnormality of the nervous system	63915	BLOC1S5	OMIM:619172
HP:0000707	Abnormality of the nervous system	3105	HLA-A	ORPHA:179
HP:0000707	Abnormality of the nervous system	283652	SLC24A5	OMIM:113750
HP:0000707	Abnormality of the nervous system	283652	SLC24A5	ORPHA:370097
HP:0000707	Abnormality of the nervous system	3850	KRT3	OMIM:618767
HP:0000707	Abnormality of the nervous system	80326	WNT10A	OMIM:257980
HP:0000707	Abnormality of the nervous system	80326	WNT10A	OMIM:150400
HP:0000707	Abnormality of the nervous system	1420	CRYGC	OMIM:604307
HP:0000707	Abnormality of the nervous system	5333	PLCD1	ORPHA:2387
HP:0000707	Abnormality of the nervous system	1474	CST6	OMIM:618535
HP:0000707	Abnormality of the nervous system	7855	FZD5	OMIM:620731
HP:0000707	Abnormality of the nervous system	5149	PDE6H	OMIM:610024
HP:0000707	Abnormality of the nervous system	5149	PDE6H	ORPHA:49382
HP:0000707	Abnormality of the nervous system	6017	RLBP1	ORPHA:52427
HP:0000707	Abnormality of the nervous system	6017	RLBP1	ORPHA:791
HP:0000707	Abnormality of the nervous system	6010	RHO	ORPHA:52427
HP:0000707	Abnormality of the nervous system	6010	RHO	ORPHA:791
HP:0000707	Abnormality of the nervous system	5959	RDH5	ORPHA:52427
HP:0000707	Abnormality of the nervous system	3859	KRT12	OMIM:122100
HP:0000707	Abnormality of the nervous system	10002	NR2E3	OMIM:611131
HP:0000707	Abnormality of the nervous system	10002	NR2E3	ORPHA:791
HP:0000707	Abnormality of the nervous system	83938	LRMDA	OMIM:615179
HP:0000707	Abnormality of the nervous system	1634	DCN	OMIM:610048
HP:0000707	Abnormality of the nervous system	4935	GPR143	ORPHA:54
HP:0000707	Abnormality of the nervous system	4935	GPR143	OMIM:300500
HP:0000707	Abnormality of the nervous system	58495	OVOL2	OMIM:122000
HP:0000707	Abnormality of the nervous system	58495	OVOL2	ORPHA:98973
HP:0000707	Abnormality of the nervous system	1545	CYP1B1	ORPHA:98976
HP:0000707	Abnormality of the nervous system	4653	MYOC	ORPHA:98976
HP:0000707	Abnormality of the nervous system	7010	TEK	ORPHA:98976
HP:0000707	Abnormality of the nervous system	6935	ZEB1	ORPHA:98973
HP:0000707	Abnormality of the nervous system	1296	COL8A2	ORPHA:98973
HP:0000707	Abnormality of the nervous system	51151	SLC45A2	ORPHA:79435
HP:0000707	Abnormality of the nervous system	92840	REEP6	ORPHA:791
HP:0000707	Abnormality of the nervous system	6094	ROM1	ORPHA:791
HP:0000707	Abnormality of the nervous system	130557	ZNF513	ORPHA:791
HP:0000707	Abnormality of the nervous system	23568	ARL2BP	ORPHA:791
HP:0000707	Abnormality of the nervous system	6101	RP1	ORPHA:791
HP:0000707	Abnormality of the nervous system	3419	IDH3A	ORPHA:791
HP:0000707	Abnormality of the nervous system	4751	NEK2	ORPHA:791
HP:0000707	Abnormality of the nervous system	346007	EYS	ORPHA:791
HP:0000707	Abnormality of the nervous system	346007	EYS	OMIM:602772
HP:0000707	Abnormality of the nervous system	8100	IFT88	ORPHA:791
HP:0000707	Abnormality of the nervous system	23020	SNRNP200	ORPHA:791
HP:0000707	Abnormality of the nervous system	762	CA4	ORPHA:791
HP:0000707	Abnormality of the nervous system	196	AHR	ORPHA:791
HP:0000707	Abnormality of the nervous system	5148	PDE6G	ORPHA:791
HP:0000707	Abnormality of the nervous system	26121	PRPF31	ORPHA:791
HP:0000707	Abnormality of the nervous system	4117	MAK	ORPHA:791
HP:0000707	Abnormality of the nervous system	25794	FSCN2	ORPHA:791
HP:0000707	Abnormality of the nervous system	375298	CERKL	ORPHA:791
HP:0000707	Abnormality of the nervous system	3420	IDH3B	ORPHA:791
HP:0000707	Abnormality of the nervous system	57670	KIAA1549	ORPHA:791
HP:0000707	Abnormality of the nervous system	7275	TUB	ORPHA:791
HP:0000707	Abnormality of the nervous system	24148	PRPF6	ORPHA:791
HP:0000707	Abnormality of the nervous system	10461	MERTK	ORPHA:791
HP:0000707	Abnormality of the nervous system	57709	SLC7A14	ORPHA:791
HP:0000707	Abnormality of the nervous system	768206	PRCD	ORPHA:791
HP:0000707	Abnormality of the nervous system	23370	ARHGEF18	ORPHA:791
HP:0000707	Abnormality of the nervous system	5949	RBP3	ORPHA:791
HP:0000707	Abnormality of the nervous system	6100	RP9	ORPHA:791
HP:0000707	Abnormality of the nervous system	84140	FAM161A	ORPHA:791
HP:0000707	Abnormality of the nervous system	5145	PDE6A	ORPHA:791
HP:0000707	Abnormality of the nervous system	9128	PRPF4	ORPHA:791
HP:0000707	Abnormality of the nervous system	50939	IMPG2	ORPHA:791
HP:0000707	Abnormality of the nervous system	2979	GUCA1B	ORPHA:791
HP:0000707	Abnormality of the nervous system	1259	CNGA1	ORPHA:791
HP:0000707	Abnormality of the nervous system	1258	CNGB1	ORPHA:791
HP:0000707	Abnormality of the nervous system	60509	AGBL5	ORPHA:791
HP:0000707	Abnormality of the nervous system	388939	PCARE	ORPHA:791
HP:0000707	Abnormality of the nervous system	7439	BEST1	ORPHA:791
HP:0000707	Abnormality of the nervous system	9785	DHX38	ORPHA:791
HP:0000707	Abnormality of the nervous system	5995	RGR	ORPHA:791
HP:0000707	Abnormality of the nervous system	9129	PRPF3	ORPHA:791
HP:0000707	Abnormality of the nervous system	3617	IMPG1	ORPHA:791
HP:0000707	Abnormality of the nervous system	94137	RP1L1	ORPHA:791
HP:0000707	Abnormality of the nervous system	5158	PDE6B	ORPHA:791
HP:0000707	Abnormality of the nervous system	6102	RP2	ORPHA:791
HP:0000707	Abnormality of the nervous system	55857	KIZ	ORPHA:791
HP:0000707	Abnormality of the nervous system	4901	NRL	ORPHA:791
HP:0000707	Abnormality of the nervous system	10594	PRPF8	ORPHA:791
HP:0000707	Abnormality of the nervous system	6295	SAG	ORPHA:791
HP:0000707	Abnormality of the nervous system	8787	RGS9	OMIM:608415
HP:0000707	Abnormality of the nervous system	8787	RGS9	ORPHA:75374
HP:0000707	Abnormality of the nervous system	114902	C1QTNF5	ORPHA:67042
HP:0000707	Abnormality of the nervous system	83552	MFRP	OMIM:611040
HP:0000707	Abnormality of the nervous system	22861	NLRP1	OMIM:617388
HP:0000707	Abnormality of the nervous system	2784	GNB3	OMIM:617024
HP:0000707	Abnormality of the nervous system	11190	CEP250	OMIM:618358
HP:0000707	Abnormality of the nervous system	611	OPN1SW	ORPHA:88629
HP:0000707	Abnormality of the nervous system	6768	ST14	OMIM:602400
HP:0000707	Abnormality of the nervous system	388531	RGS9BP	ORPHA:75374
HP:0000707	Abnormality of the nervous system	388531	RGS9BP	OMIM:620344
HP:0000707	Abnormality of the nervous system	3257	HPS1	OMIM:203300
HP:0000707	Abnormality of the nervous system	1308	COL17A1	ORPHA:293381
HP:0000707	Abnormality of the nervous system	1308	COL17A1	OMIM:122400
HP:0000707	Abnormality of the nervous system	23155	CLCC1	OMIM:609913
HP:0000707	Abnormality of the nervous system	8842	PROM1	ORPHA:827
HP:0000707	Abnormality of the nervous system	5961	PRPH2	ORPHA:827
HP:0000707	Abnormality of the nervous system	24	ABCA4	ORPHA:827
HP:0000707	Abnormality of the nervous system	54714	CNGB3	ORPHA:827
HP:0000707	Abnormality of the nervous system	7299	TYR	ORPHA:79431
HP:0000707	Abnormality of the nervous system	5631	PRPS1	ORPHA:411543
HP:0000707	Abnormality of the nervous system	5631	PRPS1	ORPHA:411536
HP:0000707	Abnormality of the nervous system	7355	SLC35A2	ORPHA:356961
HP:0000707	Abnormality of the nervous system	51807	TUBA8	ORPHA:250972
HP:0000707	Abnormality of the nervous system	5156	PDGFRA	OMIM:607685
HP:0000707	Abnormality of the nervous system	6775	STAT4	ORPHA:93552
HP:0000707	Abnormality of the nervous system	6696	SPP1	ORPHA:93552
HP:0000707	Abnormality of the nervous system	6303	SAT1	ORPHA:93552
HP:0000707	Abnormality of the nervous system	3654	IRAK1	ORPHA:93552
HP:0000707	Abnormality of the nervous system	79083	MLPH	OMIM:609227
HP:0000707	Abnormality of the nervous system	6261	RYR1	ORPHA:466650
HP:0000707	Abnormality of the nervous system	5551	PRF1	ORPHA:540
HP:0000707	Abnormality of the nervous system	8676	STX11	ORPHA:540
HP:0000707	Abnormality of the nervous system	201294	UNC13D	ORPHA:540
HP:0000707	Abnormality of the nervous system	6813	STXBP2	ORPHA:540
HP:0000707	Abnormality of the nervous system	2720	GLB1	ORPHA:79255
HP:0000707	Abnormality of the nervous system	3767	KCNJ11	ORPHA:99886
HP:0000707	Abnormality of the nervous system	3767	KCNJ11	ORPHA:79644
HP:0000707	Abnormality of the nervous system	346171	ZFP57	ORPHA:99886
HP:0000707	Abnormality of the nervous system	57061	HYMAI	ORPHA:99886
HP:0000707	Abnormality of the nervous system	6833	ABCC8	ORPHA:99886
HP:0000707	Abnormality of the nervous system	5325	PLAGL1	ORPHA:99886
HP:0000707	Abnormality of the nervous system	4868	NPHS1	ORPHA:656
HP:0000707	Abnormality of the nervous system	23607	CD2AP	ORPHA:656
HP:0000707	Abnormality of the nervous system	9688	NUP93	ORPHA:656
HP:0000707	Abnormality of the nervous system	4643	MYO1E	ORPHA:656
HP:0000707	Abnormality of the nervous system	64423	INF2	ORPHA:656
HP:0000707	Abnormality of the nervous system	26130	GAPVD1	ORPHA:656
HP:0000707	Abnormality of the nervous system	7490	WT1	ORPHA:656
HP:0000707	Abnormality of the nervous system	57122	NUP107	ORPHA:656
HP:0000707	Abnormality of the nervous system	51479	ANKFY1	ORPHA:656
HP:0000707	Abnormality of the nervous system	54443	ANLN	ORPHA:656
HP:0000707	Abnormality of the nervous system	5800	PTPRO	ORPHA:656
HP:0000707	Abnormality of the nervous system	286204	CRB2	ORPHA:656
HP:0000707	Abnormality of the nervous system	23165	NUP205	ORPHA:656
HP:0000707	Abnormality of the nervous system	2013	EMP2	ORPHA:656
HP:0000707	Abnormality of the nervous system	79023	NUP37	ORPHA:656
HP:0000707	Abnormality of the nervous system	51196	PLCE1	ORPHA:656
HP:0000707	Abnormality of the nervous system	79902	NUP85	ORPHA:656
HP:0000707	Abnormality of the nervous system	1285	COL4A3	ORPHA:656
HP:0000707	Abnormality of the nervous system	396	ARHGDIA	ORPHA:656
HP:0000707	Abnormality of the nervous system	79934	COQ8B	ORPHA:656
HP:0000707	Abnormality of the nervous system	23279	NUP160	ORPHA:656
HP:0000707	Abnormality of the nervous system	9863	MAGI2	ORPHA:656
HP:0000707	Abnormality of the nervous system	81	ACTN4	ORPHA:656
HP:0000707	Abnormality of the nervous system	7225	TRPC6	ORPHA:656
HP:0000707	Abnormality of the nervous system	8542	APOL1	ORPHA:656
HP:0000707	Abnormality of the nervous system	54885	TBC1D8B	ORPHA:656
HP:0000707	Abnormality of the nervous system	7827	NPHS2	ORPHA:656
HP:0000707	Abnormality of the nervous system	83478	ARHGAP24	ORPHA:656
HP:0000707	Abnormality of the nervous system	23500	DAAM2	ORPHA:656
HP:0000707	Abnormality of the nervous system	5076	PAX2	ORPHA:656
HP:0000707	Abnormality of the nervous system	55746	NUP133	ORPHA:656
HP:0000707	Abnormality of the nervous system	8626	TP63	OMIM:106260
HP:0000707	Abnormality of the nervous system	2592	GALT	ORPHA:79239
HP:0000707	Abnormality of the nervous system	29925	GMPPB	ORPHA:370968
HP:0000707	Abnormality of the nervous system	79147	FKRP	ORPHA:370968
HP:0000707	Abnormality of the nervous system	29954	POMT2	ORPHA:370968
HP:0000707	Abnormality of the nervous system	9215	LARGE1	ORPHA:370968
HP:0000707	Abnormality of the nervous system	10585	POMT1	ORPHA:370968
HP:0000707	Abnormality of the nervous system	8029	CUBN	ORPHA:35858
HP:0000707	Abnormality of the nervous system	81693	AMN	ORPHA:35858
HP:0000707	Abnormality of the nervous system	427	ASAH1	ORPHA:333
HP:0000707	Abnormality of the nervous system	2074	ERCC6	OMIM:600630
HP:0000707	Abnormality of the nervous system	6609	SMPD1	ORPHA:77293
HP:0000707	Abnormality of the nervous system	3423	IDS	ORPHA:217085
HP:0000707	Abnormality of the nervous system	3423	IDS	ORPHA:217093
HP:0000707	Abnormality of the nervous system	130589	GALM	ORPHA:570422
HP:0000707	Abnormality of the nervous system	79184	BRCC3	ORPHA:280679
HP:0000707	Abnormality of the nervous system	686	BTD	ORPHA:79241
HP:0000707	Abnormality of the nervous system	9361	LONP1	ORPHA:79243
HP:0000707	Abnormality of the nervous system	5160	PDHA1	ORPHA:79243
HP:0000707	Abnormality of the nervous system	1737	DLAT	ORPHA:79244
HP:0000707	Abnormality of the nervous system	7080	NKX2-1	ORPHA:209905
HP:0000707	Abnormality of the nervous system	1130	LYST	ORPHA:167
HP:0000707	Abnormality of the nervous system	4547	MTTP	ORPHA:14
HP:0000707	Abnormality of the nervous system	9839	ZEB2	ORPHA:261552
HP:0000707	Abnormality of the nervous system	9839	ZEB2	ORPHA:261537
HP:0000707	Abnormality of the nervous system	4556	MT-TE	ORPHA:254864
HP:0000707	Abnormality of the nervous system	55687	TRMU	ORPHA:254864
HP:0000707	Abnormality of the nervous system	5498	PPOX	ORPHA:79473
HP:0000707	Abnormality of the nervous system	3251	HPRT1	ORPHA:79233
HP:0000707	Abnormality of the nervous system	54	ACP5	ORPHA:1855
HP:0000707	Abnormality of the nervous system	3043	HBB	ORPHA:232
HP:0000707	Abnormality of the nervous system	10312	TCIRG1	ORPHA:210110
HP:0000707	Abnormality of the nervous system	1186	CLCN7	ORPHA:210110
HP:0000707	Abnormality of the nervous system	9842	PLEKHM1	ORPHA:210110
HP:0000707	Abnormality of the nervous system	392255	GDF6	OMIM:118100
HP:0000707	Abnormality of the nervous system	6711	SPTBN1	OMIM:619475
HP:0000707	Abnormality of the nervous system	54840	APTX	ORPHA:1168
HP:0000707	Abnormality of the nervous system	2321	FLT1	ORPHA:275555
HP:0000707	Abnormality of the nervous system	219736	STOX1	ORPHA:275555
HP:0000707	Abnormality of the nervous system	10699	CORIN	ORPHA:275555
HP:0000707	Abnormality of the nervous system	1528	CYB5A	ORPHA:621
HP:0000707	Abnormality of the nervous system	1727	CYB5R3	ORPHA:621
HP:0000707	Abnormality of the nervous system	10283	CWC27	ORPHA:166035
HP:0000707	Abnormality of the nervous system	85365	ALG2	ORPHA:79326
HP:0000707	Abnormality of the nervous system	2934	GSN	ORPHA:85448
HP:0000707	Abnormality of the nervous system	50485	SMARCAL1	ORPHA:1830
HP:0000707	Abnormality of the nervous system	1356	CP	ORPHA:48818
HP:0000707	Abnormality of the nervous system	6792	CDKL5	ORPHA:3451
HP:0000707	Abnormality of the nervous system	221692	PHACTR1	ORPHA:3451
HP:0000707	Abnormality of the nervous system	6487	ST3GAL3	ORPHA:3451
HP:0000707	Abnormality of the nervous system	10695	CNPY3	ORPHA:3451
HP:0000707	Abnormality of the nervous system	23236	PLCB1	ORPHA:3451
HP:0000707	Abnormality of the nervous system	150094	SIK1	ORPHA:3451
HP:0000707	Abnormality of the nervous system	6709	SPTAN1	ORPHA:3451
HP:0000707	Abnormality of the nervous system	60558	GUF1	ORPHA:3451
HP:0000707	Abnormality of the nervous system	170302	ARX	ORPHA:3451
HP:0000707	Abnormality of the nervous system	6326	SCN2A	ORPHA:3451
HP:0000707	Abnormality of the nervous system	11152	WDR45	ORPHA:3451
HP:0000707	Abnormality of the nervous system	2904	GRIN2B	ORPHA:3451
HP:0000707	Abnormality of the nervous system	5277	PIGA	ORPHA:3451
HP:0000707	Abnormality of the nervous system	4915	NTRK2	ORPHA:3451
HP:0000707	Abnormality of the nervous system	2811	GP1BA	ORPHA:853
HP:0000707	Abnormality of the nervous system	2812	GP1BB	ORPHA:853
HP:0000707	Abnormality of the nervous system	3674	ITGA2B	ORPHA:853
HP:0000707	Abnormality of the nervous system	3673	ITGA2	ORPHA:853
HP:0000707	Abnormality of the nervous system	135228	CD109	ORPHA:853
HP:0000707	Abnormality of the nervous system	3690	ITGB3	ORPHA:853
HP:0000707	Abnormality of the nervous system	4351	MPI	ORPHA:79319
HP:0000707	Abnormality of the nervous system	210	ALAD	ORPHA:100924
HP:0000707	Abnormality of the nervous system	25974	MMACHC	ORPHA:79282
HP:0000707	Abnormality of the nervous system	29929	ALG6	ORPHA:79320
HP:0000707	Abnormality of the nervous system	7201	TRHR	ORPHA:99832
HP:0000707	Abnormality of the nervous system	79053	ALG8	ORPHA:79325
HP:0000707	Abnormality of the nervous system	4860	PNP	ORPHA:760
HP:0000707	Abnormality of the nervous system	1513	CTSK	ORPHA:763
HP:0000707	Abnormality of the nervous system	5624	PROC	OMIM:176860
HP:0000707	Abnormality of the nervous system	3229	HOXC13	OMIM:614931
HP:0000707	Abnormality of the nervous system	4014	LORICRIN	ORPHA:79395
HP:0000707	Abnormality of the nervous system	84705	GTPBP3	ORPHA:444013
HP:0000707	Abnormality of the nervous system	4125	MAN2B1	ORPHA:309282
HP:0000707	Abnormality of the nervous system	4125	MAN2B1	ORPHA:309288
HP:0000707	Abnormality of the nervous system	134218	DNAJC21	ORPHA:811
HP:0000707	Abnormality of the nervous system	79631	EFL1	ORPHA:811
HP:0000707	Abnormality of the nervous system	51119	SBDS	ORPHA:811
HP:0000707	Abnormality of the nervous system	3034	HAL	ORPHA:2157
HP:0000707	Abnormality of the nervous system	3973	LHCGR	ORPHA:3000
HP:0000707	Abnormality of the nervous system	54476	RNF216	ORPHA:1173
HP:0000707	Abnormality of the nervous system	4035	LRP1	ORPHA:79100
HP:0000707	Abnormality of the nervous system	2324	FLT4	ORPHA:79452
HP:0000707	Abnormality of the nervous system	9780	PIEZO1	ORPHA:79452
HP:0000707	Abnormality of the nervous system	285	ANGPT2	ORPHA:79452
HP:0000707	Abnormality of the nervous system	51085	MLXIPL	OMIM:194050
HP:0000707	Abnormality of the nervous system	57192	MCOLN1	ORPHA:578
HP:0000707	Abnormality of the nervous system	2245	FGD1	ORPHA:915
HP:0000707	Abnormality of the nervous system	3479	IGF1	ORPHA:73272
HP:0000707	Abnormality of the nervous system	50940	PDE11A	ORPHA:1359
HP:0000707	Abnormality of the nervous system	23389	MED13L	ORPHA:369891
HP:0000707	Abnormality of the nervous system	9496	TBX4	ORPHA:261279
HP:0000707	Abnormality of the nervous system	389856	USP27X	OMIM:300984
HP:0000707	Abnormality of the nervous system	80185	TTI2	ORPHA:391307
HP:0000707	Abnormality of the nervous system	10664	CTCF	ORPHA:363611
HP:0000707	Abnormality of the nervous system	4810	NHS	ORPHA:627
HP:0000707	Abnormality of the nervous system	407975	MIR17HG	ORPHA:391646
HP:0000707	Abnormality of the nervous system	1540	CYLD	OMIM:619132
HP:0000707	Abnormality of the nervous system	9203	ZMYM3	OMIM:301111
HP:0000707	Abnormality of the nervous system	2036	EPB41L1	OMIM:614257
HP:0000707	Abnormality of the nervous system	2328	FMO3	ORPHA:468726
HP:0000707	Abnormality of the nervous system	2947	GSTM3	ORPHA:586
HP:0000707	Abnormality of the nervous system	1084	CEACAM3	ORPHA:586
HP:0000707	Abnormality of the nervous system	6556	SLC11A1	ORPHA:586
HP:0000707	Abnormality of the nervous system	51164	DCTN4	ORPHA:586
HP:0000707	Abnormality of the nervous system	3783	KCNN4	ORPHA:586
HP:0000707	Abnormality of the nervous system	4282	MIF	ORPHA:586
HP:0000707	Abnormality of the nervous system	6550	SLC9A3	ORPHA:586
HP:0000707	Abnormality of the nervous system	115019	SLC26A9	ORPHA:586
HP:0000707	Abnormality of the nervous system	11254	SLC6A14	ORPHA:586
HP:0000707	Abnormality of the nervous system	5265	SERPINA1	ORPHA:586
HP:0000707	Abnormality of the nervous system	1080	CFTR	ORPHA:586
HP:0000707	Abnormality of the nervous system	22802	CLCA4	ORPHA:586
HP:0000707	Abnormality of the nervous system	4680	CEACAM6	ORPHA:586
HP:0000707	Abnormality of the nervous system	2289	FKBP5	OMIM:608516
HP:0000707	Abnormality of the nervous system	10046	MAMLD1	ORPHA:95706
HP:0000707	Abnormality of the nervous system	6532	SLC6A4	OMIM:164230
HP:0000707	Abnormality of the nervous system	1471	CST3	OMIM:105150
HP:0000707	Abnormality of the nervous system	6909	TBX2	OMIM:618223
HP:0000707	Abnormality of the nervous system	23414	ZFPM2	OMIM:616067
HP:0000707	Abnormality of the nervous system	105371045	PERCC1	ORPHA:92050
HP:0000707	Abnormality of the nervous system	84133	ZNRF3	ORPHA:1501
HP:0000707	Abnormality of the nervous system	2620	GAS2	OMIM:620877
HP:0000707	Abnormality of the nervous system	695	BTK	OMIM:300755
HP:0000707	Abnormality of the nervous system	2019	EN1	OMIM:619218
HP:0000707	Abnormality of the nervous system	63931	MRPS14	OMIM:618378
HP:0000707	Abnormality of the nervous system	51082	POLR1D	OMIM:613717
HP:0000707	Abnormality of the nervous system	51082	POLR1D	ORPHA:861
HP:0000707	Abnormality of the nervous system	340990	OTOG	OMIM:614945
HP:0000707	Abnormality of the nervous system	3199	HOXA2	ORPHA:83463
HP:0000707	Abnormality of the nervous system	56984	PSMG2	OMIM:619183
HP:0000707	Abnormality of the nervous system	89891	DYNC2I2	OMIM:615633
HP:0000707	Abnormality of the nervous system	90161	HS6ST2	OMIM:301025
HP:0000707	Abnormality of the nervous system	6678	SPARC	OMIM:616507
HP:0000707	Abnormality of the nervous system	79853	TM4SF20	OMIM:615432
HP:0000707	Abnormality of the nervous system	27034	ACAD8	ORPHA:79159
HP:0000707	Abnormality of the nervous system	91452	ACBD5	OMIM:618863
HP:0000707	Abnormality of the nervous system	10054	UBA2	OMIM:619959
HP:0000707	Abnormality of the nervous system	23184	MESD	OMIM:618644
HP:0000707	Abnormality of the nervous system	6477	SIAH1	OMIM:619314
HP:0000707	Abnormality of the nervous system	161725	OTUD7A	OMIM:620790
HP:0000707	Abnormality of the nervous system	64858	DCLRE1B	OMIM:620133
HP:0000707	Abnormality of the nervous system	55503	TRPV6	OMIM:618188
HP:0000707	Abnormality of the nervous system	2615	LRRC32	OMIM:619074
HP:0000707	Abnormality of the nervous system	1028	CDKN1C	ORPHA:397590
HP:0000707	Abnormality of the nervous system	5324	PLAG1	ORPHA:397590
HP:0000707	Abnormality of the nervous system	286262	TPRN	OMIM:613307
HP:0000707	Abnormality of the nervous system	51244	CCDC174	OMIM:616816
HP:0000707	Abnormality of the nervous system	9775	EIF4A3	OMIM:268305
HP:0000707	Abnormality of the nervous system	27152	INTU	OMIM:617926
HP:0000707	Abnormality of the nervous system	10484	SEC23A	ORPHA:50814
HP:0000707	Abnormality of the nervous system	55603	TENT5A	OMIM:617952
HP:0000707	Abnormality of the nervous system	26007	TKFC	OMIM:618805
HP:0000707	Abnormality of the nervous system	5257	PHKB	ORPHA:79240
HP:0000707	Abnormality of the nervous system	4848	CNOT2	OMIM:618608
HP:0000707	Abnormality of the nervous system	1815	DRD4	OMIM:143465
HP:0000707	Abnormality of the nervous system	1816	DRD5	OMIM:143465
HP:0000707	Abnormality of the nervous system	9150	CTDP1	ORPHA:48431
HP:0000707	Abnormality of the nervous system	1311	COMP	OMIM:177170
HP:0000707	Abnormality of the nervous system	23204	ARL6IP1	OMIM:615685
HP:0000707	Abnormality of the nervous system	7518	XRCC4	OMIM:616541
HP:0000707	Abnormality of the nervous system	1384	CRAT	OMIM:617917
HP:0000707	Abnormality of the nervous system	667	DST	OMIM:614653
HP:0000707	Abnormality of the nervous system	79158	GNPTAB	OMIM:252600
HP:0000707	Abnormality of the nervous system	5308	PITX2	OMIM:180500
HP:0000707	Abnormality of the nervous system	60401	EDA2R	ORPHA:181
HP:0000707	Abnormality of the nervous system	1896	EDA	ORPHA:181
HP:0000707	Abnormality of the nervous system	6845	VAMP7	ORPHA:251510
HP:0000707	Abnormality of the nervous system	4214	MAP3K1	ORPHA:251510
HP:0000707	Abnormality of the nervous system	56154	TEX15	ORPHA:399805
HP:0000707	Abnormality of the nervous system	6875	TAF4B	ORPHA:399805
HP:0000707	Abnormality of the nervous system	254528	MEIOB	ORPHA:399805
HP:0000707	Abnormality of the nervous system	10734	STAG3	ORPHA:399805
HP:0000707	Abnormality of the nervous system	145645	TERB2	ORPHA:399805
HP:0000707	Abnormality of the nervous system	54967	CT55	ORPHA:399805
HP:0000707	Abnormality of the nervous system	4439	MSH5	ORPHA:399805
HP:0000707	Abnormality of the nervous system	283847	TERB1	ORPHA:399805
HP:0000707	Abnormality of the nervous system	402381	SOHLH1	ORPHA:399805
HP:0000707	Abnormality of the nervous system	56159	TEX11	ORPHA:399805
HP:0000707	Abnormality of the nervous system	144132	DNHD1	ORPHA:399805
HP:0000707	Abnormality of the nervous system	50511	SYCP3	ORPHA:399805
HP:0000707	Abnormality of the nervous system	285498	RNF212	ORPHA:399805
HP:0000707	Abnormality of the nervous system	54456	MOV10L1	ORPHA:399805
HP:0000707	Abnormality of the nervous system	56155	TEX14	ORPHA:399805
HP:0000707	Abnormality of the nervous system	91057	CCDC34	ORPHA:399805
HP:0000707	Abnormality of the nervous system	375307	CATIP	ORPHA:399805
HP:0000707	Abnormality of the nervous system	196385	DNAH10	ORPHA:399805
HP:0000707	Abnormality of the nervous system	140801	RPL10L	ORPHA:399805
HP:0000707	Abnormality of the nervous system	317719	KLHL10	ORPHA:399805
HP:0000707	Abnormality of the nervous system	200162	SPAG17	ORPHA:399805
HP:0000707	Abnormality of the nervous system	84225	ZMYND15	ORPHA:399805
HP:0000707	Abnormality of the nervous system	122402	TDRD9	ORPHA:399805
HP:0000707	Abnormality of the nervous system	154197	PNLDC1	ORPHA:399805
HP:0000707	Abnormality of the nervous system	93426	SYCE1	ORPHA:399805
HP:0000707	Abnormality of the nervous system	340719	NANOS1	ORPHA:399805
HP:0000707	Abnormality of the nervous system	286151	FBXO43	ORPHA:399805
HP:0000707	Abnormality of the nervous system	158401	SHOC1	ORPHA:399805
HP:0000707	Abnormality of the nervous system	5161	PDHA2	ORPHA:399805
HP:0000707	Abnormality of the nervous system	1586	CYP17A1	ORPHA:90793
HP:0000707	Abnormality of the nervous system	5618	PRLR	OMIM:615555
HP:0000707	Abnormality of the nervous system	51256	TBC1D7	OMIM:248000
HP:0000707	Abnormality of the nervous system	51099	ABHD5	OMIM:275630
HP:0000707	Abnormality of the nervous system	283489	CHAMP1	OMIM:616579
HP:0000707	Abnormality of the nervous system	10111	RAD50	OMIM:613078
HP:0000707	Abnormality of the nervous system	4313	MMP2	ORPHA:371428
HP:0000707	Abnormality of the nervous system	4323	MMP14	ORPHA:371428
HP:0000707	Abnormality of the nervous system	1280	COL2A1	ORPHA:90653
HP:0000707	Abnormality of the nervous system	1280	COL2A1	OMIM:184250
HP:0000707	Abnormality of the nervous system	1280	COL2A1	ORPHA:85198
HP:0000707	Abnormality of the nervous system	8036	SHOC2	ORPHA:2701
HP:0000707	Abnormality of the nervous system	8036	SHOC2	OMIM:607721
HP:0000707	Abnormality of the nervous system	5500	PPP1CB	ORPHA:2701
HP:0000707	Abnormality of the nervous system	89910	UBE3B	ORPHA:2707
HP:0000707	Abnormality of the nervous system	1187	CLCNKA	OMIM:613090
HP:0000707	Abnormality of the nervous system	8493	PPM1D	OMIM:617450
HP:0000707	Abnormality of the nervous system	23512	SUZ12	OMIM:618786
HP:0000707	Abnormality of the nervous system	23512	SUZ12	ORPHA:3447
HP:0000707	Abnormality of the nervous system	6654	SOS1	OMIM:135300
HP:0000707	Abnormality of the nervous system	6654	SOS1	OMIM:610733
HP:0000707	Abnormality of the nervous system	6654	SOS1	ORPHA:648
HP:0000707	Abnormality of the nervous system	6885	MAP3K7	ORPHA:1826
HP:0000707	Abnormality of the nervous system	56246	MRAP	ORPHA:361
HP:0000707	Abnormality of the nervous system	6770	STAR	ORPHA:361
HP:0000707	Abnormality of the nervous system	10587	TXNRD2	ORPHA:361
HP:0000707	Abnormality of the nervous system	1523	CUX1	OMIM:618330
HP:0000707	Abnormality of the nervous system	3480	IGF1R	ORPHA:73273
HP:0000707	Abnormality of the nervous system	3480	IGF1R	OMIM:270450
HP:0000707	Abnormality of the nervous system	54517	PUS7	OMIM:618342
HP:0000707	Abnormality of the nervous system	90459	ERI1	OMIM:620663
HP:0000707	Abnormality of the nervous system	90459	ERI1	OMIM:620662
HP:0000707	Abnormality of the nervous system	144165	PRICKLE1	ORPHA:308
HP:0000707	Abnormality of the nervous system	7038	TG	OMIM:274700
HP:0000707	Abnormality of the nervous system	7038	TG	ORPHA:95716
HP:0000707	Abnormality of the nervous system	27125	AFF4	ORPHA:444077
HP:0000707	Abnormality of the nervous system	27125	AFF4	OMIM:616368
HP:0000707	Abnormality of the nervous system	55262	TRAPPC14	OMIM:618351
HP:0000707	Abnormality of the nervous system	23043	TNIK	OMIM:617028
HP:0000707	Abnormality of the nervous system	2334	AFF2	OMIM:309548
HP:0000707	Abnormality of the nervous system	2334	AFF2	ORPHA:100973
HP:0000707	Abnormality of the nervous system	56776	FMN2	OMIM:616193
HP:0000707	Abnormality of the nervous system	7086	TKT	OMIM:617044
HP:0000707	Abnormality of the nervous system	2707	GJB3	ORPHA:317
HP:0000707	Abnormality of the nervous system	2531	KDSR	ORPHA:317
HP:0000707	Abnormality of the nervous system	127534	GJB4	ORPHA:317
HP:0000707	Abnormality of the nervous system	5184	PEPD	ORPHA:742
HP:0000707	Abnormality of the nervous system	1457	CSNK2A1	OMIM:617062
HP:0000707	Abnormality of the nervous system	203068	TUBB	OMIM:156610
HP:0000707	Abnormality of the nervous system	203068	TUBB	ORPHA:2505
HP:0000707	Abnormality of the nervous system	89970	RSPRY1	ORPHA:457395
HP:0000707	Abnormality of the nervous system	89970	RSPRY1	OMIM:616723
HP:0000707	Abnormality of the nervous system	7474	WNT5A	OMIM:180700
HP:0000707	Abnormality of the nervous system	7474	WNT5A	ORPHA:3107
HP:0000707	Abnormality of the nervous system	128	ADH5	OMIM:619151
HP:0000707	Abnormality of the nervous system	80254	CEP63	OMIM:614728
HP:0000707	Abnormality of the nervous system	10555	AGPAT2	OMIM:608594
HP:0000707	Abnormality of the nervous system	10555	AGPAT2	ORPHA:528
HP:0000707	Abnormality of the nervous system	6999	TDO2	OMIM:600627
HP:0000707	Abnormality of the nervous system	3070	HELLS	OMIM:616911
HP:0000707	Abnormality of the nervous system	3070	HELLS	ORPHA:2268
HP:0000707	Abnormality of the nervous system	83879	CDCA7	OMIM:616910
HP:0000707	Abnormality of the nervous system	83879	CDCA7	ORPHA:2268
HP:0000707	Abnormality of the nervous system	9653	HS2ST1	OMIM:619194
HP:0000707	Abnormality of the nervous system	64327	LMBR1	ORPHA:2378
HP:0000707	Abnormality of the nervous system	6473	SHOX	OMIM:249700
HP:0000707	Abnormality of the nervous system	6949	TCOF1	OMIM:154500
HP:0000707	Abnormality of the nervous system	1062	CENPE	ORPHA:808
HP:0000707	Abnormality of the nervous system	5932	RBBP8	ORPHA:808
HP:0000707	Abnormality of the nervous system	5932	RBBP8	OMIM:251255
HP:0000707	Abnormality of the nervous system	84126	ATRIP	ORPHA:808
HP:0000707	Abnormality of the nervous system	10293	TRAIP	ORPHA:808
HP:0000707	Abnormality of the nervous system	1763	DNA2	ORPHA:808
HP:0000707	Abnormality of the nervous system	1763	DNA2	OMIM:615807
HP:0000707	Abnormality of the nervous system	200403	VWA3B	OMIM:616948
HP:0000707	Abnormality of the nervous system	226	ALDOA	ORPHA:57
HP:0000707	Abnormality of the nervous system	226	ALDOA	OMIM:611881
HP:0000707	Abnormality of the nervous system	22856	CHSY1	ORPHA:363417
HP:0000707	Abnormality of the nervous system	8092	ALX1	OMIM:613456
HP:0000707	Abnormality of the nervous system	8092	ALX1	ORPHA:306542
HP:0000707	Abnormality of the nervous system	5447	POR	OMIM:207410
HP:0000707	Abnormality of the nervous system	10413	YAP1	ORPHA:1473
HP:0000707	Abnormality of the nervous system	10413	YAP1	OMIM:120433
HP:0000707	Abnormality of the nervous system	7200	TRH	OMIM:275120
HP:0000707	Abnormality of the nervous system	2821	GPI	OMIM:613470
HP:0000707	Abnormality of the nervous system	134701	RIPPLY2	ORPHA:2311
HP:0000707	Abnormality of the nervous system	10683	DLL3	ORPHA:2311
HP:0000707	Abnormality of the nervous system	3955	LFNG	ORPHA:2311
HP:0000707	Abnormality of the nervous system	84667	HES7	ORPHA:2311
HP:0000707	Abnormality of the nervous system	145873	MESP2	ORPHA:2311
HP:0000707	Abnormality of the nervous system	2138	EYA1	ORPHA:2792
HP:0000707	Abnormality of the nervous system	5075	PAX1	ORPHA:2792
HP:0000707	Abnormality of the nervous system	157570	ESCO2	ORPHA:2319
HP:0000707	Abnormality of the nervous system	157570	ESCO2	OMIM:268300
HP:0000707	Abnormality of the nervous system	157570	ESCO2	OMIM:216100
HP:0000707	Abnormality of the nervous system	157570	ESCO2	ORPHA:3103
HP:0000707	Abnormality of the nervous system	197131	UBR1	ORPHA:2315
HP:0000707	Abnormality of the nervous system	197131	UBR1	OMIM:243800
HP:0000707	Abnormality of the nervous system	64840	PORCN	OMIM:305600
HP:0000707	Abnormality of the nervous system	55180	LINS1	OMIM:614340
HP:0000707	Abnormality of the nervous system	8022	LHX3	OMIM:221750
HP:0000707	Abnormality of the nervous system	1836	SLC26A2	OMIM:222600
HP:0000707	Abnormality of the nervous system	22796	COG2	ORPHA:435934
HP:0000707	Abnormality of the nervous system	953	ENTPD1	OMIM:615683
HP:0000707	Abnormality of the nervous system	9076	CLDN1	OMIM:607626
HP:0000707	Abnormality of the nervous system	387	RHOA	OMIM:618727
HP:0000707	Abnormality of the nervous system	8086	AAAS	OMIM:231550
HP:0000707	Abnormality of the nervous system	8086	AAAS	ORPHA:869
HP:0000707	Abnormality of the nervous system	64131	XYLT1	ORPHA:1425
HP:0000707	Abnormality of the nervous system	64131	XYLT1	OMIM:615777
HP:0000707	Abnormality of the nervous system	124583	CANT1	ORPHA:1425
HP:0000707	Abnormality of the nervous system	124583	CANT1	OMIM:251450
HP:0000707	Abnormality of the nervous system	55790	CSGALNACT1	ORPHA:1425
HP:0000707	Abnormality of the nervous system	2182	ACSL4	OMIM:300387
HP:0000707	Abnormality of the nervous system	83452	RAB33B	OMIM:615222
HP:0000707	Abnormality of the nervous system	7545	ZIC1	OMIM:618736
HP:0000707	Abnormality of the nervous system	7545	ZIC1	ORPHA:35099
HP:0000707	Abnormality of the nervous system	1460	CSNK2B	OMIM:618732
HP:0000707	Abnormality of the nervous system	246329	STAC3	OMIM:255995
HP:0000707	Abnormality of the nervous system	8294	H4C9	OMIM:619951
HP:0000707	Abnormality of the nervous system	9853	RUSC2	OMIM:617773
HP:0000707	Abnormality of the nervous system	6873	TAF2	OMIM:615599
HP:0000707	Abnormality of the nervous system	6873	TAF2	ORPHA:397951
HP:0000707	Abnormality of the nervous system	1947	EFNB1	ORPHA:1520
HP:0000707	Abnormality of the nervous system	1947	EFNB1	OMIM:304110
HP:0000707	Abnormality of the nervous system	114803	MYSM1	ORPHA:508542
HP:0000707	Abnormality of the nervous system	65267	WNK3	OMIM:309610
HP:0000707	Abnormality of the nervous system	7552	ZNF711	OMIM:300803
HP:0000707	Abnormality of the nervous system	51111	KMT5B	OMIM:617788
HP:0000707	Abnormality of the nervous system	121340	SP7	ORPHA:1513
HP:0000707	Abnormality of the nervous system	129685	TAF8	OMIM:619972
HP:0000707	Abnormality of the nervous system	10584	COLEC10	OMIM:248340
HP:0000707	Abnormality of the nervous system	10584	COLEC10	ORPHA:293843
HP:0000707	Abnormality of the nervous system	55109	AGGF1	ORPHA:90308
HP:0000707	Abnormality of the nervous system	64359	NXN	ORPHA:1507
HP:0000707	Abnormality of the nervous system	4920	ROR2	ORPHA:1507
HP:0000707	Abnormality of the nervous system	4920	ROR2	OMIM:268310
HP:0000707	Abnormality of the nervous system	5566	PRKACA	ORPHA:289
HP:0000707	Abnormality of the nervous system	5567	PRKACB	ORPHA:289
HP:0000707	Abnormality of the nervous system	2735	GLI1	ORPHA:289
HP:0000707	Abnormality of the nervous system	2121	EVC	ORPHA:289
HP:0000707	Abnormality of the nervous system	2121	EVC	OMIM:225500
HP:0000707	Abnormality of the nervous system	51626	DYNC2LI1	ORPHA:289
HP:0000707	Abnormality of the nervous system	132884	EVC2	ORPHA:289
HP:0000707	Abnormality of the nervous system	132884	EVC2	OMIM:225500
HP:0000707	Abnormality of the nervous system	3612	IMPA1	OMIM:617323
HP:0000707	Abnormality of the nervous system	55714	TENM3	OMIM:615145
HP:0000707	Abnormality of the nervous system	55623	THUMPD1	OMIM:619989
HP:0000707	Abnormality of the nervous system	8642	DCHS1	OMIM:601390
HP:0000707	Abnormality of the nervous system	3476	IGBP1	ORPHA:52055
HP:0000707	Abnormality of the nervous system	3476	IGBP1	OMIM:300472
HP:0000707	Abnormality of the nervous system	9533	POLR1C	OMIM:616494
HP:0000707	Abnormality of the nervous system	4849	CNOT3	OMIM:618672
HP:0000707	Abnormality of the nervous system	153201	SLC36A2	OMIM:242600
HP:0000707	Abnormality of the nervous system	10848	PPP1R13L	OMIM:620519
HP:0000707	Abnormality of the nervous system	57479	PRR12	OMIM:619539
HP:0000707	Abnormality of the nervous system	2678	GGT1	OMIM:231950
HP:0000707	Abnormality of the nervous system	1107	CHD3	OMIM:618205
HP:0000707	Abnormality of the nervous system	54808	DYM	ORPHA:239
HP:0000707	Abnormality of the nervous system	54808	DYM	OMIM:223800
HP:0000707	Abnormality of the nervous system	54808	DYM	OMIM:607326
HP:0000707	Abnormality of the nervous system	57102	FERRY3	OMIM:618221
HP:0000707	Abnormality of the nervous system	170689	ADAMTS15	OMIM:620545
HP:0000707	Abnormality of the nervous system	5745	PTH1R	OMIM:600002
HP:0000707	Abnormality of the nervous system	79048	SECISBP2	ORPHA:171706
HP:0000707	Abnormality of the nervous system	2664	GDI1	OMIM:300849
HP:0000707	Abnormality of the nervous system	5831	PYCR1	OMIM:612940
HP:0000707	Abnormality of the nervous system	5831	PYCR1	OMIM:614438
HP:0000707	Abnormality of the nervous system	9820	CUL7	OMIM:273750
HP:0000707	Abnormality of the nervous system	92344	GORAB	OMIM:231070
HP:0000707	Abnormality of the nervous system	2299	FOXI1	OMIM:274600
HP:0000707	Abnormality of the nervous system	2299	FOXI1	ORPHA:705
HP:0000707	Abnormality of the nervous system	5172	SLC26A4	OMIM:274600
HP:0000707	Abnormality of the nervous system	5172	SLC26A4	ORPHA:705
HP:0000707	Abnormality of the nervous system	80324	PUS1	OMIM:600462
HP:0000707	Abnormality of the nervous system	80324	PUS1	ORPHA:2598
HP:0000707	Abnormality of the nervous system	10013	HDAC6	OMIM:300863
HP:0000707	Abnormality of the nervous system	6023	RMRP	OMIM:607095
HP:0000707	Abnormality of the nervous system	51715	RAB23	ORPHA:65759
HP:0000707	Abnormality of the nervous system	51715	RAB23	OMIM:201000
HP:0000707	Abnormality of the nervous system	1954	MEGF8	ORPHA:65759
HP:0000707	Abnormality of the nervous system	81620	CDT1	OMIM:613804
HP:0000707	Abnormality of the nervous system	81620	CDT1	ORPHA:2554
HP:0000707	Abnormality of the nervous system	139411	PTCHD1	OMIM:300830
HP:0000707	Abnormality of the nervous system	79005	SCNM1	OMIM:620107
HP:0000707	Abnormality of the nervous system	4796	TONSL	OMIM:271510
HP:0000707	Abnormality of the nervous system	113189	CHST14	OMIM:601776
HP:0000707	Abnormality of the nervous system	22978	NT5C2	ORPHA:320396
HP:0000707	Abnormality of the nervous system	22978	NT5C2	OMIM:613162
HP:0000707	Abnormality of the nervous system	6566	SLC16A1	OMIM:616095
HP:0000707	Abnormality of the nervous system	64093	SMOC1	OMIM:206920
HP:0000707	Abnormality of the nervous system	57020	VPS35L	OMIM:619135
HP:0000707	Abnormality of the nervous system	57020	VPS35L	ORPHA:7
HP:0000707	Abnormality of the nervous system	3739	KCNA4	OMIM:618284
HP:0000707	Abnormality of the nervous system	22800	RRAS2	ORPHA:648
HP:0000707	Abnormality of the nervous system	867	CBL	ORPHA:648
HP:0000707	Abnormality of the nervous system	6016	RIT1	ORPHA:648
HP:0000707	Abnormality of the nervous system	6016	RIT1	OMIM:615355
HP:0000707	Abnormality of the nervous system	6237	RRAS	ORPHA:648
HP:0000707	Abnormality of the nervous system	22808	MRAS	ORPHA:648
HP:0000707	Abnormality of the nervous system	200734	SPRED2	ORPHA:648
HP:0000707	Abnormality of the nervous system	6655	SOS2	ORPHA:648
HP:0000707	Abnormality of the nervous system	5922	RASA2	ORPHA:648
HP:0000707	Abnormality of the nervous system	2690	GHR	ORPHA:633
HP:0000707	Abnormality of the nervous system	341640	FREM2	ORPHA:2052
HP:0000707	Abnormality of the nervous system	23426	GRIP1	ORPHA:2052
HP:0000707	Abnormality of the nervous system	10262	SF3B4	OMIM:154400
HP:0000707	Abnormality of the nervous system	10992	SF3B2	OMIM:164210
HP:0000707	Abnormality of the nervous system	1299	COL9A3	OMIM:620022
HP:0000707	Abnormality of the nervous system	51204	TACO1	OMIM:619052
HP:0000707	Abnormality of the nervous system	81031	SLC2A10	ORPHA:3342
HP:0000707	Abnormality of the nervous system	81031	SLC2A10	OMIM:208050
HP:0000707	Abnormality of the nervous system	55691	FRMD4A	OMIM:616819
HP:0000707	Abnormality of the nervous system	10430	TMEM147	OMIM:620075
HP:0000707	Abnormality of the nervous system	64220	STRA6	ORPHA:2470
HP:0000707	Abnormality of the nervous system	7477	WNT7B	ORPHA:2470
HP:0000707	Abnormality of the nervous system	5915	RARB	ORPHA:2470
HP:0000707	Abnormality of the nervous system	5915	RARB	OMIM:615524
HP:0000707	Abnormality of the nervous system	79791	FBXO31	OMIM:615979
HP:0000707	Abnormality of the nervous system	51750	RTEL1	ORPHA:3322
HP:0000707	Abnormality of the nervous system	5073	PARN	ORPHA:3322
HP:0000707	Abnormality of the nervous system	26277	TINF2	ORPHA:3322
HP:0000707	Abnormality of the nervous system	1736	DKC1	ORPHA:3322
HP:0000707	Abnormality of the nervous system	1736	DKC1	OMIM:305000
HP:0000707	Abnormality of the nervous system	51053	GMNN	OMIM:616835
HP:0000707	Abnormality of the nervous system	51053	GMNN	ORPHA:2554
HP:0000707	Abnormality of the nervous system	91179	SCARF2	OMIM:600920
HP:0000707	Abnormality of the nervous system	125988	MICOS13	ORPHA:67047
HP:0000707	Abnormality of the nervous system	3920	LAMP2	ORPHA:34587
HP:0000707	Abnormality of the nervous system	3920	LAMP2	OMIM:300257
HP:0000707	Abnormality of the nervous system	26224	FBXL3	OMIM:606220
HP:0000707	Abnormality of the nervous system	10265	IRX5	OMIM:611174
HP:0000707	Abnormality of the nervous system	10841	FTCD	OMIM:229100
HP:0000707	Abnormality of the nervous system	5925	RB1	ORPHA:1587
HP:0000707	Abnormality of the nervous system	29940	DSE	OMIM:615539
HP:0000707	Abnormality of the nervous system	8200	GDF5	OMIM:200700
HP:0000707	Abnormality of the nervous system	23443	SLC35A3	OMIM:615553
HP:0000707	Abnormality of the nervous system	5293	PIK3CD	ORPHA:221139
HP:0000707	Abnormality of the nervous system	90417	KNSTRN	ORPHA:221139
HP:0000707	Abnormality of the nervous system	6591	SNAI2	ORPHA:2884
HP:0000707	Abnormality of the nervous system	1663	DDX11	OMIM:613398
HP:0000707	Abnormality of the nervous system	2990	GUSB	OMIM:253220
HP:0000707	Abnormality of the nervous system	2990	GUSB	ORPHA:584
HP:0000707	Abnormality of the nervous system	10082	GPC6	ORPHA:93329
HP:0000707	Abnormality of the nervous system	406932	MIR140	OMIM:618618
HP:0000707	Abnormality of the nervous system	23498	HAAO	OMIM:617660
HP:0000707	Abnormality of the nervous system	9578	CDC42BPB	OMIM:619841
HP:0000707	Abnormality of the nervous system	64412	GZF1	OMIM:617662
HP:0000707	Abnormality of the nervous system	3149	HMGB3	OMIM:300915
HP:0000707	Abnormality of the nervous system	64834	ELOVL1	OMIM:618527
HP:0000707	Abnormality of the nervous system	79140	CCDC28B	OMIM:209900
HP:0000707	Abnormality of the nervous system	1428	CRYM	OMIM:616357
HP:0000707	Abnormality of the nervous system	10531	PITRM1	OMIM:619405
HP:0000707	Abnormality of the nervous system	1749	DLX5	OMIM:183600
HP:0000707	Abnormality of the nervous system	7227	TRPS1	OMIM:190350
HP:0000707	Abnormality of the nervous system	7227	TRPS1	OMIM:190351
HP:0000707	Abnormality of the nervous system	7227	TRPS1	ORPHA:502
HP:0000707	Abnormality of the nervous system	7046	TGFBR1	OMIM:609192
HP:0000707	Abnormality of the nervous system	1642	DDB1	OMIM:619426
HP:0000707	Abnormality of the nervous system	9949	AMMECR1	OMIM:300990
HP:0000707	Abnormality of the nervous system	8473	OGT	OMIM:300997
HP:0000707	Abnormality of the nervous system	5309	PITX3	OMIM:610623
HP:0000707	Abnormality of the nervous system	7707	ZNF148	OMIM:617260
HP:0000707	Abnormality of the nervous system	6299	SALL1	OMIM:107480
HP:0000707	Abnormality of the nervous system	6299	SALL1	ORPHA:857
HP:0000707	Abnormality of the nervous system	55249	YY1AP1	OMIM:602531
HP:0000707	Abnormality of the nervous system	147409	DSG4	ORPHA:573
HP:0000707	Abnormality of the nervous system	3892	KRT86	ORPHA:573
HP:0000707	Abnormality of the nervous system	3889	KRT83	ORPHA:573
HP:0000707	Abnormality of the nervous system	3887	KRT81	ORPHA:573
HP:0000707	Abnormality of the nervous system	55250	ELP2	OMIM:617270
HP:0000707	Abnormality of the nervous system	3039	HBA1	ORPHA:98791
HP:0000707	Abnormality of the nervous system	3040	HBA2	ORPHA:98791
HP:0000707	Abnormality of the nervous system	27341	RRP7A	OMIM:619453
HP:0000707	Abnormality of the nervous system	5077	PAX3	OMIM:148820
HP:0000707	Abnormality of the nervous system	5077	PAX3	ORPHA:896
HP:0000707	Abnormality of the nervous system	7809	BSND	OMIM:602522
HP:0000707	Abnormality of the nervous system	7253	TSHR	OMIM:609152
HP:0000707	Abnormality of the nervous system	57498	KIDINS220	OMIM:617296
HP:0000707	Abnormality of the nervous system	57498	KIDINS220	ORPHA:521390
HP:0000707	Abnormality of the nervous system	55505	NOP10	OMIM:224230
HP:0000707	Abnormality of the nervous system	55651	NHP2	OMIM:224230
HP:0000707	Abnormality of the nervous system	55651	NHP2	OMIM:613987
HP:0000707	Abnormality of the nervous system	2317	FLNB	ORPHA:503
HP:0000707	Abnormality of the nervous system	2317	FLNB	OMIM:150250
HP:0000707	Abnormality of the nervous system	405753	DUOXA2	OMIM:274900
HP:0000707	Abnormality of the nervous system	405753	DUOXA2	ORPHA:95716
HP:0000707	Abnormality of the nervous system	28952	CCDC22	OMIM:300963
HP:0000707	Abnormality of the nervous system	28952	CCDC22	ORPHA:7
HP:0000707	Abnormality of the nervous system	80267	EDEM3	OMIM:619493
HP:0000707	Abnormality of the nervous system	10491	CRTAP	OMIM:610682
HP:0000707	Abnormality of the nervous system	203190	LGI3	OMIM:620007
HP:0000707	Abnormality of the nervous system	5468	PPARG	ORPHA:528
HP:0000707	Abnormality of the nervous system	2353	FOS	ORPHA:528
HP:0000707	Abnormality of the nervous system	5524	PTPA	OMIM:620482
HP:0000707	Abnormality of the nervous system	118429	ANTXR2	OMIM:228600
HP:0000707	Abnormality of the nervous system	57539	WDR35	OMIM:613610
HP:0000707	Abnormality of the nervous system	3953	LEPR	OMIM:614963
HP:0000707	Abnormality of the nervous system	23325	WASHC4	OMIM:615817
HP:0000707	Abnormality of the nervous system	633	BGN	OMIM:300106
HP:0000707	Abnormality of the nervous system	54499	TMCO1	OMIM:213980
HP:0000707	Abnormality of the nervous system	54499	TMCO1	ORPHA:1394
HP:0000707	Abnormality of the nervous system	55275	VPS53	OMIM:615851
HP:0000707	Abnormality of the nervous system	79228	THOC6	OMIM:613680
HP:0000707	Abnormality of the nervous system	51134	CEP83	OMIM:615862
HP:0000707	Abnormality of the nervous system	84181	CHD6	ORPHA:2108
HP:0000707	Abnormality of the nervous system	5648	MASP1	OMIM:257920
HP:0000707	Abnormality of the nervous system	5648	MASP1	ORPHA:293843
HP:0000707	Abnormality of the nervous system	6948	TCN2	OMIM:275350
HP:0000707	Abnormality of the nervous system	54101	RIPK4	ORPHA:1234
HP:0000707	Abnormality of the nervous system	3176	HNMT	OMIM:616739
HP:0000707	Abnormality of the nervous system	5000	ORC4	ORPHA:2554
HP:0000707	Abnormality of the nervous system	23594	ORC6	ORPHA:2554
HP:0000707	Abnormality of the nervous system	8318	CDC45	ORPHA:2554
HP:0000707	Abnormality of the nervous system	990	CDC6	ORPHA:2554
HP:0000707	Abnormality of the nervous system	4998	ORC1	ORPHA:2554
HP:0000707	Abnormality of the nervous system	1000	CDH2	OMIM:618929
HP:0000707	Abnormality of the nervous system	55764	IFT122	OMIM:218330
HP:0000707	Abnormality of the nervous system	2304	FOXE1	ORPHA:1226
HP:0000707	Abnormality of the nervous system	84061	MAGT1	OMIM:301031
HP:0000707	Abnormality of the nervous system	84172	POLR1B	OMIM:618939
HP:0000707	Abnormality of the nervous system	117581	TWIST2	OMIM:209885
HP:0000707	Abnormality of the nervous system	114928	GPRASP2	OMIM:301018
HP:0000707	Abnormality of the nervous system	7991	TUSC3	OMIM:611093
HP:0000707	Abnormality of the nervous system	55553	SOX6	OMIM:618971
HP:0000707	Abnormality of the nervous system	1804	DPP6	OMIM:616311
HP:0000707	Abnormality of the nervous system	64682	ANAPC1	ORPHA:221008
HP:0000707	Abnormality of the nervous system	9524	TECR	OMIM:614020
HP:0000707	Abnormality of the nervous system	2895	GRID2	OMIM:616204
HP:0000707	Abnormality of the nervous system	51126	NAA20	OMIM:619717
HP:0000707	Abnormality of the nervous system	2972	BRF1	OMIM:616202
HP:0000707	Abnormality of the nervous system	3008	H1-4	OMIM:617537
HP:0000707	Abnormality of the nervous system	3891	KRT85	OMIM:602032
HP:0000707	Abnormality of the nervous system	84572	GNPTG	OMIM:252605
HP:0000707	Abnormality of the nervous system	9469	CHST3	OMIM:143095
HP:0000707	Abnormality of the nervous system	7920	ABHD16A	OMIM:619735
HP:0000707	Abnormality of the nervous system	23761	PISD	OMIM:618889
HP:0000707	Abnormality of the nervous system	84314	TMEM107	OMIM:617562
HP:0000707	Abnormality of the nervous system	64132	XYLT2	ORPHA:85194
HP:0000707	Abnormality of the nervous system	9056	SLC7A7	ORPHA:470
HP:0000707	Abnormality of the nervous system	9056	SLC7A7	OMIM:222700
HP:0000707	Abnormality of the nervous system	8363	H4C11	OMIM:619759
HP:0000707	Abnormality of the nervous system	9841	ZBTB24	OMIM:614069
HP:0000707	Abnormality of the nervous system	9841	ZBTB24	ORPHA:2268
HP:0000707	Abnormality of the nervous system	6810	STX4	OMIM:620745
HP:0000707	Abnormality of the nervous system	145258	GSC	OMIM:602471
HP:0000707	Abnormality of the nervous system	2312	FLG	ORPHA:461
HP:0000707	Abnormality of the nervous system	53335	BCL11A	OMIM:617101
HP:0000707	Abnormality of the nervous system	54487	DGCR8	OMIM:192430
HP:0000707	Abnormality of the nervous system	8214	DGCR6	OMIM:192430
HP:0000707	Abnormality of the nervous system	8220	ESS2	OMIM:192430
HP:0000707	Abnormality of the nervous system	9993	DGCR2	OMIM:192430
HP:0000707	Abnormality of the nervous system	11261	CHP1	OMIM:618438
HP:0000707	Abnormality of the nervous system	3978	LIG1	OMIM:619774
HP:0000707	Abnormality of the nervous system	85459	CEP295	OMIM:620767
HP:0000707	Abnormality of the nervous system	6528	SLC5A5	OMIM:274400
HP:0000707	Abnormality of the nervous system	6528	SLC5A5	ORPHA:95716
HP:0000707	Abnormality of the nervous system	257	ALX3	OMIM:136760
HP:0000707	Abnormality of the nervous system	79882	ZC3H14	OMIM:617125
HP:0000707	Abnormality of the nervous system	5256	PHKA2	ORPHA:264580
HP:0000707	Abnormality of the nervous system	5261	PHKG2	ORPHA:264580
HP:0000707	Abnormality of the nervous system	2582	GALE	OMIM:620776
HP:0000707	Abnormality of the nervous system	2582	GALE	OMIM:230350
HP:0000707	Abnormality of the nervous system	203547	VMA21	OMIM:310440
HP:0000707	Abnormality of the nervous system	4143	MAT1A	OMIM:250850
HP:0000707	Abnormality of the nervous system	1363	CPE	OMIM:619326
HP:0000707	Abnormality of the nervous system	93035	PKHD1L1	OMIM:620794
HP:0000707	Abnormality of the nervous system	1108	CHD4	OMIM:617159
HP:0000707	Abnormality of the nervous system	11080	DNAJB4	OMIM:620326
HP:0000707	Abnormality of the nervous system	2628	GATM	OMIM:612718
HP:0000707	Abnormality of the nervous system	9791	PTDSS1	OMIM:151050
HP:0000707	Abnormality of the nervous system	9791	PTDSS1	ORPHA:2658
HP:0000707	Abnormality of the nervous system	4882	NPR2	OMIM:602875
HP:0000707	Abnormality of the nervous system	51339	DACT1	ORPHA:857
HP:0000707	Abnormality of the nervous system	389434	IYD	OMIM:274800
HP:0000707	Abnormality of the nervous system	389434	IYD	ORPHA:95716
HP:0000707	Abnormality of the nervous system	8443	GNPAT	OMIM:222765
HP:0000707	Abnormality of the nervous system	7102	TSPAN7	OMIM:300210
HP:0000707	Abnormality of the nervous system	29128	UHRF1	ORPHA:2268
HP:0000707	Abnormality of the nervous system	649	BMP1	OMIM:614856
HP:0000707	Abnormality of the nervous system	197257	LDHD	OMIM:245450
HP:0000707	Abnormality of the nervous system	1857	DVL3	ORPHA:3107
HP:0000707	Abnormality of the nervous system	2535	FZD2	ORPHA:3107
HP:0000707	Abnormality of the nervous system	6628	SNRPB	ORPHA:1393
HP:0000707	Abnormality of the nervous system	6628	SNRPB	OMIM:117650
HP:0000707	Abnormality of the nervous system	2548	GAA	ORPHA:308552
HP:0000707	Abnormality of the nervous system	254065	BRWD3	OMIM:300659
HP:0000707	Abnormality of the nervous system	9928	KIF14	OMIM:617914
HP:0000707	Abnormality of the nervous system	2273	FHL1	ORPHA:98863
HP:0000707	Abnormality of the nervous system	2273	FHL1	OMIM:300280
HP:0000707	Abnormality of the nervous system	2010	EMD	ORPHA:98863
HP:0000707	Abnormality of the nervous system	79188	TMEM43	ORPHA:98853
HP:0000707	Abnormality of the nervous system	23224	SYNE2	ORPHA:98853
HP:0000707	Abnormality of the nervous system	9158	FIBP	ORPHA:500095
HP:0000707	Abnormality of the nervous system	4683	NBN	OMIM:251260
HP:0000707	Abnormality of the nervous system	101929726	MYMX	ORPHA:1358
HP:0000707	Abnormality of the nervous system	8671	SLC4A4	OMIM:604278
HP:0000707	Abnormality of the nervous system	7173	TPO	ORPHA:95716
HP:0000707	Abnormality of the nervous system	50506	DUOX2	ORPHA:95716
HP:0000707	Abnormality of the nervous system	3549	IHH	OMIM:607778
HP:0000707	Abnormality of the nervous system	338917	VSX2	OMIM:610093
HP:0000707	Abnormality of the nervous system	6505	SLC1A1	OMIM:222730
HP:0000707	Abnormality of the nervous system	2588	GALNS	OMIM:253000
HP:0000707	Abnormality of the nervous system	54870	QRICH1	OMIM:617982
HP:0000707	Abnormality of the nervous system	55315	SLC29A3	ORPHA:1782
HP:0000707	Abnormality of the nervous system	6223	RPS19	OMIM:105650
HP:0000707	Abnormality of the nervous system	23133	PHF8	OMIM:300263
HP:0000707	Abnormality of the nervous system	139886	SPIN4	OMIM:301114
HP:0000707	Abnormality of the nervous system	10083	USH1C	ORPHA:231169
HP:0000707	Abnormality of the nervous system	124590	USH1G	ORPHA:231169
HP:0000707	Abnormality of the nervous system	83715	ESPN	ORPHA:231169
HP:0000707	Abnormality of the nervous system	10518	CIB2	ORPHA:231169
HP:0000707	Abnormality of the nervous system	4647	MYO7A	ORPHA:231169
HP:0000707	Abnormality of the nervous system	65217	PCDH15	ORPHA:231169
HP:0000707	Abnormality of the nervous system	23001	WDFY3	OMIM:617520
HP:0000707	Abnormality of the nervous system	9181	ARHGEF2	OMIM:617523
HP:0000707	Abnormality of the nervous system	1718	DHCR24	OMIM:602398
HP:0000707	Abnormality of the nervous system	1718	DHCR24	ORPHA:35107
HP:0000707	Abnormality of the nervous system	3064	HTT	ORPHA:399
HP:0000707	Abnormality of the nervous system	3064	HTT	OMIM:617435
HP:0000707	Abnormality of the nervous system	3064	HTT	OMIM:143100
HP:0000707	Abnormality of the nervous system	3064	HTT	ORPHA:248111
HP:0000707	Abnormality of the nervous system	6515	SLC2A3	ORPHA:399
HP:0000707	Abnormality of the nervous system	875	CBS	ORPHA:394
HP:0000707	Abnormality of the nervous system	875	CBS	OMIM:236200
HP:0000707	Abnormality of the nervous system	4524	MTHFR	ORPHA:395
HP:0000707	Abnormality of the nervous system	4524	MTHFR	OMIM:236250
HP:0000707	Abnormality of the nervous system	23394	ADNP	ORPHA:404448
HP:0000707	Abnormality of the nervous system	23394	ADNP	OMIM:615873
HP:0000707	Abnormality of the nervous system	51399	TRAPPC4	OMIM:618741
HP:0000707	Abnormality of the nervous system	1139	CHRNA7	ORPHA:199318
HP:0000707	Abnormality of the nervous system	1139	CHRNA7	OMIM:612001
HP:0000707	Abnormality of the nervous system	51569	UFM1	OMIM:617899
HP:0000707	Abnormality of the nervous system	1024	CDK8	OMIM:618748
HP:0000707	Abnormality of the nervous system	10059	DNM1L	OMIM:614388
HP:0000707	Abnormality of the nervous system	10059	DNM1L	ORPHA:330050
HP:0000707	Abnormality of the nervous system	10059	DNM1L	ORPHA:98673
HP:0000707	Abnormality of the nervous system	7360	UGP2	OMIM:618744
HP:0000707	Abnormality of the nervous system	1788	DNMT3A	ORPHA:404443
HP:0000707	Abnormality of the nervous system	1788	DNMT3A	OMIM:615879
HP:0000707	Abnormality of the nervous system	55209	SETD5	ORPHA:404440
HP:0000707	Abnormality of the nervous system	2731	GLDC	OMIM:605899
HP:0000707	Abnormality of the nervous system	3909	LAMA3	ORPHA:79404
HP:0000707	Abnormality of the nervous system	3918	LAMC2	ORPHA:79404
HP:0000707	Abnormality of the nervous system	3914	LAMB3	ORPHA:79404
HP:0000707	Abnormality of the nervous system	1729	DIAPH1	ORPHA:477814
HP:0000707	Abnormality of the nervous system	1729	DIAPH1	ORPHA:2573
HP:0000707	Abnormality of the nervous system	1729	DIAPH1	OMIM:616632
HP:0000707	Abnormality of the nervous system	3481	IGF2	ORPHA:231140
HP:0000707	Abnormality of the nervous system	283120	H19	ORPHA:231140
HP:0000707	Abnormality of the nervous system	2593	GAMT	ORPHA:382
HP:0000707	Abnormality of the nervous system	2593	GAMT	OMIM:612736
HP:0000707	Abnormality of the nervous system	2737	GLI3	ORPHA:380
HP:0000707	Abnormality of the nervous system	2737	GLI3	OMIM:175700
HP:0000707	Abnormality of the nervous system	2737	GLI3	OMIM:146510
HP:0000707	Abnormality of the nervous system	2348	FOLR1	OMIM:613068
HP:0000707	Abnormality of the nervous system	23322	RPGRIP1L	ORPHA:220497
HP:0000707	Abnormality of the nervous system	23322	RPGRIP1L	ORPHA:1454
HP:0000707	Abnormality of the nervous system	4867	NPHP1	ORPHA:220497
HP:0000707	Abnormality of the nervous system	4867	NPHP1	ORPHA:110
HP:0000707	Abnormality of the nervous system	65062	TMEM237	ORPHA:220497
HP:0000707	Abnormality of the nervous system	65062	TMEM237	ORPHA:2318
HP:0000707	Abnormality of the nervous system	65062	TMEM237	ORPHA:475
HP:0000707	Abnormality of the nervous system	27245	AHDC1	ORPHA:412069
HP:0000707	Abnormality of the nervous system	2137	EXTL3	OMIM:617425
HP:0000707	Abnormality of the nervous system	2137	EXTL3	ORPHA:508533
HP:0000707	Abnormality of the nervous system	166378	AFG2A	OMIM:616577
HP:0000707	Abnormality of the nervous system	166378	AFG2A	ORPHA:457351
HP:0000707	Abnormality of the nervous system	84466	MEGF10	OMIM:614399
HP:0000707	Abnormality of the nervous system	54806	AHI1	ORPHA:220493
HP:0000707	Abnormality of the nervous system	54806	AHI1	ORPHA:475
HP:0000707	Abnormality of the nervous system	56623	INPP5E	ORPHA:220493
HP:0000707	Abnormality of the nervous system	56623	INPP5E	ORPHA:1454
HP:0000707	Abnormality of the nervous system	56623	INPP5E	ORPHA:475
HP:0000707	Abnormality of the nervous system	153241	CEP120	ORPHA:220493
HP:0000707	Abnormality of the nervous system	153241	CEP120	ORPHA:475
HP:0000707	Abnormality of the nervous system	54903	MKS1	ORPHA:220493
HP:0000707	Abnormality of the nervous system	54903	MKS1	ORPHA:110
HP:0000707	Abnormality of the nervous system	54903	MKS1	ORPHA:475
HP:0000707	Abnormality of the nervous system	95681	CEP41	ORPHA:220493
HP:0000707	Abnormality of the nervous system	95681	CEP41	ORPHA:475
HP:0000707	Abnormality of the nervous system	84197	POMK	OMIM:615249
HP:0000707	Abnormality of the nervous system	84197	POMK	ORPHA:370959
HP:0000707	Abnormality of the nervous system	84197	POMK	ORPHA:899
HP:0000707	Abnormality of the nervous system	1161	ERCC8	OMIM:216400
HP:0000707	Abnormality of the nervous system	1161	ERCC8	ORPHA:90324
HP:0000707	Abnormality of the nervous system	1161	ERCC8	ORPHA:90321
HP:0000707	Abnormality of the nervous system	488	ATP2A2	OMIM:124200
HP:0000707	Abnormality of the nervous system	488	ATP2A2	ORPHA:218
HP:0000707	Abnormality of the nervous system	317662	FAM149B1	OMIM:618763
HP:0000707	Abnormality of the nervous system	317662	FAM149B1	ORPHA:2754
HP:0000707	Abnormality of the nervous system	79029	AFG2B	OMIM:619616
HP:0000707	Abnormality of the nervous system	79029	AFG2B	OMIM:619615
HP:0000707	Abnormality of the nervous system	6573	SLC19A1	OMIM:620603
HP:0000707	Abnormality of the nervous system	2261	FGFR3	ORPHA:1860
HP:0000707	Abnormality of the nervous system	2261	FGFR3	ORPHA:794
HP:0000707	Abnormality of the nervous system	2261	FGFR3	ORPHA:93274
HP:0000707	Abnormality of the nervous system	2261	FGFR3	ORPHA:2363
HP:0000707	Abnormality of the nervous system	2261	FGFR3	OMIM:616482
HP:0000707	Abnormality of the nervous system	2261	FGFR3	OMIM:602849
HP:0000707	Abnormality of the nervous system	7436	VLDLR	OMIM:224050
HP:0000707	Abnormality of the nervous system	7436	VLDLR	ORPHA:1766
HP:0000707	Abnormality of the nervous system	55681	SCYL2	OMIM:618766
HP:0000707	Abnormality of the nervous system	5191	PEX7	OMIM:215100
HP:0000707	Abnormality of the nervous system	8659	ALDH4A1	OMIM:239510
HP:0000707	Abnormality of the nervous system	8659	ALDH4A1	ORPHA:79101
HP:0000707	Abnormality of the nervous system	2697	GJA1	ORPHA:2710
HP:0000707	Abnormality of the nervous system	2697	GJA1	ORPHA:1010
HP:0000707	Abnormality of the nervous system	2697	GJA1	OMIM:164200
HP:0000707	Abnormality of the nervous system	4508	MT-ATP6	OMIM:551500
HP:0000707	Abnormality of the nervous system	4508	MT-ATP6	ORPHA:644
HP:0000707	Abnormality of the nervous system	4508	MT-ATP6	ORPHA:254913
HP:0000707	Abnormality of the nervous system	4508	MT-ATP6	ORPHA:255210
HP:0000707	Abnormality of the nervous system	9401	RECQL4	OMIM:218600
HP:0000707	Abnormality of the nervous system	171023	ASXL1	ORPHA:97297
HP:0000707	Abnormality of the nervous system	171023	ASXL1	OMIM:605039
HP:0000707	Abnormality of the nervous system	4330	MN1	OMIM:618774
HP:0000707	Abnormality of the nervous system	9997	SCO2	OMIM:608908
HP:0000707	Abnormality of the nervous system	9997	SCO2	OMIM:604377
HP:0000707	Abnormality of the nervous system	5813	PURA	ORPHA:438216
HP:0000707	Abnormality of the nervous system	5813	PURA	OMIM:616158
HP:0000707	Abnormality of the nervous system	5813	PURA	ORPHA:314655
HP:0000707	Abnormality of the nervous system	3340	NDST1	OMIM:616116
HP:0000707	Abnormality of the nervous system	284184	NDUFAF8	OMIM:618776
HP:0000707	Abnormality of the nervous system	4247	MGAT2	OMIM:212066
HP:0000707	Abnormality of the nervous system	4247	MGAT2	ORPHA:79329
HP:0000707	Abnormality of the nervous system	5373	PMM2	OMIM:212065
HP:0000707	Abnormality of the nervous system	5373	PMM2	ORPHA:79318
HP:0000707	Abnormality of the nervous system	63901	FAM111A	OMIM:602361
HP:0000707	Abnormality of the nervous system	63901	FAM111A	OMIM:127000
HP:0000707	Abnormality of the nervous system	1499	CTNNB1	ORPHA:54595
HP:0000707	Abnormality of the nervous system	1499	CTNNB1	ORPHA:404473
HP:0000707	Abnormality of the nervous system	673	BRAF	ORPHA:54595
HP:0000707	Abnormality of the nervous system	673	BRAF	ORPHA:626
HP:0000707	Abnormality of the nervous system	673	BRAF	OMIM:613707
HP:0000707	Abnormality of the nervous system	673	BRAF	OMIM:613706
HP:0000707	Abnormality of the nervous system	673	BRAF	OMIM:115150
HP:0000707	Abnormality of the nervous system	8398	PLA2G6	ORPHA:199351
HP:0000707	Abnormality of the nervous system	8398	PLA2G6	ORPHA:35069
HP:0000707	Abnormality of the nervous system	8398	PLA2G6	OMIM:610217
HP:0000707	Abnormality of the nervous system	8398	PLA2G6	OMIM:256600
HP:0000707	Abnormality of the nervous system	5476	CTSA	ORPHA:351
HP:0000707	Abnormality of the nervous system	5476	CTSA	OMIM:256540
HP:0000707	Abnormality of the nervous system	55768	NGLY1	OMIM:615273
HP:0000707	Abnormality of the nervous system	55621	TRMT1	OMIM:618302
HP:0000707	Abnormality of the nervous system	6905	TBCE	OMIM:241410
HP:0000707	Abnormality of the nervous system	6905	TBCE	OMIM:244460
HP:0000707	Abnormality of the nervous system	6905	TBCE	ORPHA:2323
HP:0000707	Abnormality of the nervous system	6905	TBCE	OMIM:617207
HP:0000707	Abnormality of the nervous system	6905	TBCE	ORPHA:496756
HP:0000707	Abnormality of the nervous system	11277	TREX1	OMIM:192315
HP:0000707	Abnormality of the nervous system	11277	TREX1	OMIM:225750
HP:0000707	Abnormality of the nervous system	11277	TREX1	ORPHA:51
HP:0000707	Abnormality of the nervous system	11277	TREX1	OMIM:152700
HP:0000707	Abnormality of the nervous system	11277	TREX1	ORPHA:536
HP:0000707	Abnormality of the nervous system	51633	OTUD6B	OMIM:617452
HP:0000707	Abnormality of the nervous system	51633	OTUD6B	ORPHA:505237
HP:0000707	Abnormality of the nervous system	9636	ISG15	OMIM:616126
HP:0000707	Abnormality of the nervous system	5604	MAP2K1	OMIM:615279
HP:0000707	Abnormality of the nervous system	2517	FUCA1	ORPHA:349
HP:0000707	Abnormality of the nervous system	2517	FUCA1	OMIM:230000
HP:0000707	Abnormality of the nervous system	9289	ADGRG1	ORPHA:101070
HP:0000707	Abnormality of the nervous system	9289	ADGRG1	OMIM:606854
HP:0000707	Abnormality of the nervous system	9289	ADGRG1	ORPHA:98889
HP:0000707	Abnormality of the nervous system	9289	ADGRG1	OMIM:615752
HP:0000707	Abnormality of the nervous system	5728	PTEN	ORPHA:101070
HP:0000707	Abnormality of the nervous system	5728	PTEN	ORPHA:65285
HP:0000707	Abnormality of the nervous system	5728	PTEN	ORPHA:210548
HP:0000707	Abnormality of the nervous system	5728	PTEN	ORPHA:201
HP:0000707	Abnormality of the nervous system	5728	PTEN	OMIM:158350
HP:0000707	Abnormality of the nervous system	5728	PTEN	ORPHA:109
HP:0000707	Abnormality of the nervous system	2203	FBP1	ORPHA:348
HP:0000707	Abnormality of the nervous system	2203	FBP1	OMIM:229700
HP:0000707	Abnormality of the nervous system	4598	MVK	ORPHA:343
HP:0000707	Abnormality of the nervous system	4598	MVK	ORPHA:29
HP:0000707	Abnormality of the nervous system	5727	PTCH1	OMIM:610828
HP:0000707	Abnormality of the nervous system	5727	PTCH1	ORPHA:220386
HP:0000707	Abnormality of the nervous system	5727	PTCH1	ORPHA:280200
HP:0000707	Abnormality of the nervous system	5727	PTCH1	ORPHA:77301
HP:0000707	Abnormality of the nervous system	5727	PTCH1	ORPHA:93926
HP:0000707	Abnormality of the nervous system	5727	PTCH1	ORPHA:93924
HP:0000707	Abnormality of the nervous system	5727	PTCH1	ORPHA:93925
HP:0000707	Abnormality of the nervous system	4210	MEFV	ORPHA:342
HP:0000707	Abnormality of the nervous system	4210	MEFV	ORPHA:117
HP:0000707	Abnormality of the nervous system	2736	GLI2	OMIM:610829
HP:0000707	Abnormality of the nervous system	2736	GLI2	ORPHA:95494
HP:0000707	Abnormality of the nervous system	2736	GLI2	ORPHA:220386
HP:0000707	Abnormality of the nervous system	2736	GLI2	ORPHA:280200
HP:0000707	Abnormality of the nervous system	2736	GLI2	ORPHA:93926
HP:0000707	Abnormality of the nervous system	2736	GLI2	ORPHA:93924
HP:0000707	Abnormality of the nervous system	2736	GLI2	ORPHA:93925
HP:0000707	Abnormality of the nervous system	79718	TBL1XR1	OMIM:602342
HP:0000707	Abnormality of the nervous system	79718	TBL1XR1	OMIM:616944
HP:0000707	Abnormality of the nervous system	3766	KCNJ10	ORPHA:199343
HP:0000707	Abnormality of the nervous system	3766	KCNJ10	OMIM:612780
HP:0000707	Abnormality of the nervous system	54828	BCAS3	OMIM:619641
HP:0000707	Abnormality of the nervous system	1615	DARS1	OMIM:615281
HP:0000707	Abnormality of the nervous system	3800	KIF5C	OMIM:615282
HP:0000707	Abnormality of the nervous system	5621	PRNP	ORPHA:157941
HP:0000707	Abnormality of the nervous system	5621	PRNP	ORPHA:282166
HP:0000707	Abnormality of the nervous system	57169	ZNFX1	OMIM:619644
HP:0000707	Abnormality of the nervous system	11041	B4GAT1	OMIM:615287
HP:0000707	Abnormality of the nervous system	11041	B4GAT1	ORPHA:899
HP:0000707	Abnormality of the nervous system	2232	FDXR	ORPHA:543470
HP:0000707	Abnormality of the nervous system	7358	UGDH	OMIM:618792
HP:0000707	Abnormality of the nervous system	113179	ADAT3	OMIM:615286
HP:0000707	Abnormality of the nervous system	113179	ADAT3	ORPHA:363528
HP:0000707	Abnormality of the nervous system	1742	DLG4	OMIM:618793
HP:0000707	Abnormality of the nervous system	56947	MFF	ORPHA:485421
HP:0000707	Abnormality of the nervous system	56947	MFF	OMIM:617086
HP:0000707	Abnormality of the nervous system	56652	TWNK	OMIM:616138
HP:0000707	Abnormality of the nervous system	56652	TWNK	ORPHA:70595
HP:0000707	Abnormality of the nervous system	56652	TWNK	OMIM:609286
HP:0000707	Abnormality of the nervous system	56652	TWNK	ORPHA:254892
HP:0000707	Abnormality of the nervous system	56652	TWNK	OMIM:607459
HP:0000707	Abnormality of the nervous system	476	ATP1A1	OMIM:618314
HP:0000707	Abnormality of the nervous system	200424	TET3	OMIM:618798
HP:0000707	Abnormality of the nervous system	79971	WLS	OMIM:619648
HP:0000707	Abnormality of the nervous system	9711	RUBCN	ORPHA:404499
HP:0000707	Abnormality of the nervous system	9711	RUBCN	OMIM:615705
HP:0000707	Abnormality of the nervous system	10667	FARS2	ORPHA:466722
HP:0000707	Abnormality of the nervous system	10667	FARS2	OMIM:614946
HP:0000707	Abnormality of the nervous system	57688	ZSWIM6	OMIM:603671
HP:0000707	Abnormality of the nervous system	57688	ZSWIM6	ORPHA:1827
HP:0000707	Abnormality of the nervous system	51567	TDP2	ORPHA:404493
HP:0000707	Abnormality of the nervous system	51567	TDP2	OMIM:616949
HP:0000707	Abnormality of the nervous system	90	ACVR1	ORPHA:337
HP:0000707	Abnormality of the nervous system	57609	DIP2B	OMIM:136630
HP:0000707	Abnormality of the nervous system	1436	CSF1R	OMIM:221820
HP:0000707	Abnormality of the nervous system	1436	CSF1R	OMIM:618476
HP:0000707	Abnormality of the nervous system	775	CACNA1C	OMIM:601005
HP:0000707	Abnormality of the nervous system	775	CACNA1C	ORPHA:101016
HP:0000707	Abnormality of the nervous system	775	CACNA1C	OMIM:620029
HP:0000707	Abnormality of the nervous system	2239	GPC4	ORPHA:373
HP:0000707	Abnormality of the nervous system	2719	GPC3	ORPHA:373
HP:0000707	Abnormality of the nervous system	55739	NAXD	OMIM:618321
HP:0000707	Abnormality of the nervous system	197258	FCSK	OMIM:618324
HP:0000707	Abnormality of the nervous system	23483	TGDS	OMIM:616145
HP:0000707	Abnormality of the nervous system	84168	ANTXR1	OMIM:230740
HP:0000707	Abnormality of the nervous system	25836	NIPBL	OMIM:122470
HP:0000707	Abnormality of the nervous system	25836	NIPBL	ORPHA:199
HP:0000707	Abnormality of the nervous system	23499	MACF1	OMIM:618325
HP:0000707	Abnormality of the nervous system	4087	SMAD2	OMIM:619657
HP:0000707	Abnormality of the nervous system	2744	GLS	OMIM:618328
HP:0000707	Abnormality of the nervous system	4733	DRG1	OMIM:620641
HP:0000707	Abnormality of the nervous system	79648	MCPH1	OMIM:251200
HP:0000707	Abnormality of the nervous system	2055	CLN8	OMIM:600143
HP:0000707	Abnormality of the nervous system	2055	CLN8	ORPHA:1947
HP:0000707	Abnormality of the nervous system	2629	GBA1	ORPHA:77261
HP:0000707	Abnormality of the nervous system	2629	GBA1	ORPHA:77260
HP:0000707	Abnormality of the nervous system	2629	GBA1	ORPHA:85212
HP:0000707	Abnormality of the nervous system	2629	GBA1	OMIM:608013
HP:0000707	Abnormality of the nervous system	2629	GBA1	OMIM:231005
HP:0000707	Abnormality of the nervous system	2629	GBA1	OMIM:230900
HP:0000707	Abnormality of the nervous system	1387	CREBBP	OMIM:618332
HP:0000707	Abnormality of the nervous system	1387	CREBBP	ORPHA:353281
HP:0000707	Abnormality of the nervous system	1387	CREBBP	ORPHA:353277
HP:0000707	Abnormality of the nervous system	1387	CREBBP	OMIM:180849
HP:0000707	Abnormality of the nervous system	1387	CREBBP	ORPHA:592574
HP:0000707	Abnormality of the nervous system	58497	PRUNE1	OMIM:617481
HP:0000707	Abnormality of the nervous system	58497	PRUNE1	ORPHA:544469
HP:0000707	Abnormality of the nervous system	51693	TRAPPC2L	OMIM:618331
HP:0000707	Abnormality of the nervous system	84188	FAR1	OMIM:616154
HP:0000707	Abnormality of the nervous system	84188	FAR1	ORPHA:438178
HP:0000707	Abnormality of the nervous system	120	ADD3	OMIM:617008
HP:0000707	Abnormality of the nervous system	5426	POLE	OMIM:618336
HP:0000707	Abnormality of the nervous system	5426	POLE	ORPHA:440437
HP:0000707	Abnormality of the nervous system	5910	RAP1GDS1	OMIM:620655
HP:0000707	Abnormality of the nervous system	835	CASP2	OMIM:620653
HP:0000707	Abnormality of the nervous system	435	ASL	ORPHA:23
HP:0000707	Abnormality of the nervous system	435	ASL	OMIM:207900
HP:0000707	Abnormality of the nervous system	7291	TWIST1	ORPHA:794
HP:0000707	Abnormality of the nervous system	2263	FGFR2	ORPHA:794
HP:0000707	Abnormality of the nervous system	2263	FGFR2	ORPHA:93260
HP:0000707	Abnormality of the nervous system	2263	FGFR2	ORPHA:93259
HP:0000707	Abnormality of the nervous system	2263	FGFR2	ORPHA:2363
HP:0000707	Abnormality of the nervous system	2263	FGFR2	OMIM:123500
HP:0000707	Abnormality of the nervous system	2639	GCDH	ORPHA:25
HP:0000707	Abnormality of the nervous system	2639	GCDH	OMIM:231670
HP:0000707	Abnormality of the nervous system	3155	HMGCL	ORPHA:20
HP:0000707	Abnormality of the nervous system	3155	HMGCL	OMIM:246450
HP:0000707	Abnormality of the nervous system	6448	SGSH	OMIM:252900
HP:0000707	Abnormality of the nervous system	8925	HERC1	OMIM:617011
HP:0000707	Abnormality of the nervous system	1281	COL3A1	OMIM:618343
HP:0000707	Abnormality of the nervous system	1281	COL3A1	ORPHA:231160
HP:0000707	Abnormality of the nervous system	10785	WDR4	OMIM:618346
HP:0000707	Abnormality of the nervous system	10785	WDR4	OMIM:618347
HP:0000707	Abnormality of the nervous system	10785	WDR4	ORPHA:2065
HP:0000707	Abnormality of the nervous system	2495	FTH1	OMIM:620669
HP:0000707	Abnormality of the nervous system	8573	CASK	OMIM:300749
HP:0000707	Abnormality of the nervous system	8573	CASK	ORPHA:1934
HP:0000707	Abnormality of the nervous system	8573	CASK	OMIM:300422
HP:0000707	Abnormality of the nervous system	8573	CASK	ORPHA:163937
HP:0000707	Abnormality of the nervous system	1798	DPAGT1	OMIM:608093
HP:0000707	Abnormality of the nervous system	1798	DPAGT1	ORPHA:86309
HP:0000707	Abnormality of the nervous system	51259	TMEM216	OMIM:608091
HP:0000707	Abnormality of the nervous system	51259	TMEM216	ORPHA:2318
HP:0000707	Abnormality of the nervous system	51259	TMEM216	ORPHA:2754
HP:0000707	Abnormality of the nervous system	51117	COQ4	OMIM:620666
HP:0000707	Abnormality of the nervous system	51117	COQ4	OMIM:616276
HP:0000707	Abnormality of the nervous system	100033413	SNORD116-1	OMIM:176270
HP:0000707	Abnormality of the nervous system	8924	HERC2	OMIM:176270
HP:0000707	Abnormality of the nervous system	8924	HERC2	OMIM:615516
HP:0000707	Abnormality of the nervous system	23742	NPAP1	OMIM:176270
HP:0000707	Abnormality of the nervous system	338433	SNORD115-1	OMIM:176270
HP:0000707	Abnormality of the nervous system	54551	MAGEL2	OMIM:176270
HP:0000707	Abnormality of the nervous system	54551	MAGEL2	ORPHA:398069
HP:0000707	Abnormality of the nervous system	54551	MAGEL2	ORPHA:177904
HP:0000707	Abnormality of the nervous system	54551	MAGEL2	ORPHA:177901
HP:0000707	Abnormality of the nervous system	54551	MAGEL2	OMIM:615547
HP:0000707	Abnormality of the nervous system	54551	MAGEL2	ORPHA:98754
HP:0000707	Abnormality of the nervous system	7681	MKRN3	OMIM:176270
HP:0000707	Abnormality of the nervous system	145624	PWAR1	OMIM:176270
HP:0000707	Abnormality of the nervous system	3653	IPW	OMIM:176270
HP:0000707	Abnormality of the nervous system	791114	PWRN1	OMIM:176270
HP:0000707	Abnormality of the nervous system	1950	EGF	OMIM:611718
HP:0000707	Abnormality of the nervous system	56945	MRPS22	OMIM:611719
HP:0000707	Abnormality of the nervous system	5575	PRKAR1B	OMIM:619680
HP:0000707	Abnormality of the nervous system	3028	HSD17B10	ORPHA:391457
HP:0000707	Abnormality of the nervous system	3028	HSD17B10	ORPHA:391428
HP:0000707	Abnormality of the nervous system	3028	HSD17B10	OMIM:300438
HP:0000707	Abnormality of the nervous system	10733	PLK4	OMIM:616171
HP:0000707	Abnormality of the nervous system	10733	PLK4	ORPHA:2518
HP:0000707	Abnormality of the nervous system	3712	IVD	ORPHA:33
HP:0000707	Abnormality of the nervous system	3712	IVD	OMIM:243500
HP:0000707	Abnormality of the nervous system	23395	LARS2	OMIM:617021
HP:0000707	Abnormality of the nervous system	283989	TSEN54	OMIM:225753
HP:0000707	Abnormality of the nervous system	283989	TSEN54	OMIM:610204
HP:0000707	Abnormality of the nervous system	283989	TSEN54	ORPHA:2524
HP:0000707	Abnormality of the nervous system	283989	TSEN54	ORPHA:166063
HP:0000707	Abnormality of the nervous system	283989	TSEN54	OMIM:277470
HP:0000707	Abnormality of the nervous system	23114	NFASC	OMIM:618356
HP:0000707	Abnormality of the nervous system	55182	RNF220	OMIM:619688
HP:0000707	Abnormality of the nervous system	6096	RORB	OMIM:618357
HP:0000707	Abnormality of the nervous system	116461	TSEN15	OMIM:617026
HP:0000707	Abnormality of the nervous system	116461	TSEN15	ORPHA:2524
HP:0000707	Abnormality of the nervous system	6492	SIM1	ORPHA:398079
HP:0000707	Abnormality of the nervous system	25885	POLR1A	OMIM:620675
HP:0000707	Abnormality of the nervous system	25885	POLR1A	OMIM:616462
HP:0000707	Abnormality of the nervous system	51114	ZDHHC9	ORPHA:776
HP:0000707	Abnormality of the nervous system	65109	UPF3B	ORPHA:776
HP:0000707	Abnormality of the nervous system	9968	MED12	ORPHA:776
HP:0000707	Abnormality of the nervous system	9968	MED12	OMIM:309520
HP:0000707	Abnormality of the nervous system	9968	MED12	OMIM:300895
HP:0000707	Abnormality of the nervous system	9968	MED12	ORPHA:93932
HP:0000707	Abnormality of the nervous system	9968	MED12	OMIM:305450
HP:0000707	Abnormality of the nervous system	4204	MECP2	ORPHA:778
HP:0000707	Abnormality of the nervous system	4204	MECP2	OMIM:312750
HP:0000707	Abnormality of the nervous system	4204	MECP2	OMIM:300055
HP:0000707	Abnormality of the nervous system	4204	MECP2	OMIM:300496
HP:0000707	Abnormality of the nervous system	4204	MECP2	ORPHA:536
HP:0000707	Abnormality of the nervous system	4204	MECP2	ORPHA:209370
HP:0000707	Abnormality of the nervous system	4204	MECP2	ORPHA:3095
HP:0000707	Abnormality of the nervous system	4204	MECP2	ORPHA:3077
HP:0000707	Abnormality of the nervous system	4204	MECP2	OMIM:300673
HP:0000707	Abnormality of the nervous system	4204	MECP2	OMIM:300260
HP:0000707	Abnormality of the nervous system	801	CALM1	ORPHA:101016
HP:0000707	Abnormality of the nervous system	3753	KCNE1	ORPHA:101016
HP:0000707	Abnormality of the nervous system	3753	KCNE1	ORPHA:90647
HP:0000707	Abnormality of the nervous system	3762	KCNJ5	ORPHA:101016
HP:0000707	Abnormality of the nervous system	3762	KCNJ5	ORPHA:37553
HP:0000707	Abnormality of the nervous system	805	CALM2	ORPHA:101016
HP:0000707	Abnormality of the nervous system	805	CALM2	OMIM:616249
HP:0000707	Abnormality of the nervous system	6910	TBX5	ORPHA:101016
HP:0000707	Abnormality of the nervous system	6336	SCN10A	ORPHA:101016
HP:0000707	Abnormality of the nervous system	6336	SCN10A	ORPHA:46348
HP:0000707	Abnormality of the nervous system	3757	KCNH2	ORPHA:101016
HP:0000707	Abnormality of the nervous system	9992	KCNE2	ORPHA:101016
HP:0000707	Abnormality of the nervous system	10142	AKAP9	ORPHA:101016
HP:0000707	Abnormality of the nervous system	9722	NOS1AP	ORPHA:101016
HP:0000707	Abnormality of the nervous system	3784	KCNQ1	ORPHA:101016
HP:0000707	Abnormality of the nervous system	3784	KCNQ1	ORPHA:90647
HP:0000707	Abnormality of the nervous system	10345	TRDN	ORPHA:101016
HP:0000707	Abnormality of the nervous system	10345	TRDN	OMIM:604772
HP:0000707	Abnormality of the nervous system	6331	SCN5A	ORPHA:101016
HP:0000707	Abnormality of the nervous system	6330	SCN4B	ORPHA:101016
HP:0000707	Abnormality of the nervous system	808	CALM3	ORPHA:101016
HP:0000707	Abnormality of the nervous system	6640	SNTA1	ORPHA:101016
HP:0000707	Abnormality of the nervous system	859	CAV3	ORPHA:101016
HP:0000707	Abnormality of the nervous system	287	ANK2	ORPHA:101016
HP:0000707	Abnormality of the nervous system	79709	COLGALT1	OMIM:618360
HP:0000707	Abnormality of the nervous system	473	RERE	ORPHA:494344
HP:0000707	Abnormality of the nervous system	473	RERE	OMIM:616975
HP:0000707	Abnormality of the nervous system	473	RERE	ORPHA:1606
HP:0000707	Abnormality of the nervous system	55777	MBD5	OMIM:156200
HP:0000707	Abnormality of the nervous system	55777	MBD5	ORPHA:228402
HP:0000707	Abnormality of the nervous system	486	FXYD2	OMIM:154020
HP:0000707	Abnormality of the nervous system	84340	GFM2	ORPHA:565624
HP:0000707	Abnormality of the nervous system	10588	MTHFS	OMIM:618367
HP:0000707	Abnormality of the nervous system	24140	FTSJ1	OMIM:309549
HP:0000707	Abnormality of the nervous system	6601	SMARCC2	OMIM:618362
HP:0000707	Abnormality of the nervous system	6601	SMARCC2	ORPHA:1465
HP:0000707	Abnormality of the nervous system	92255	LMBRD2	OMIM:619694
HP:0000707	Abnormality of the nervous system	6334	SCN8A	OMIM:618364
HP:0000707	Abnormality of the nervous system	6334	SCN8A	ORPHA:442835
HP:0000707	Abnormality of the nervous system	6334	SCN8A	ORPHA:31709
HP:0000707	Abnormality of the nervous system	3054	HCFC1	OMIM:309541
HP:0000707	Abnormality of the nervous system	201163	FLCN	OMIM:610883
HP:0000707	Abnormality of the nervous system	819	CAMLG	OMIM:620201
HP:0000707	Abnormality of the nervous system	2717	GLA	ORPHA:324
HP:0000707	Abnormality of the nervous system	2717	GLA	OMIM:301500
HP:0000707	Abnormality of the nervous system	25778	DSTYK	ORPHA:101003
HP:0000707	Abnormality of the nervous system	5805	PTS	ORPHA:13
HP:0000707	Abnormality of the nervous system	5805	PTS	OMIM:261640
HP:0000707	Abnormality of the nervous system	2743	GLRB	ORPHA:3197
HP:0000707	Abnormality of the nervous system	2741	GLRA1	ORPHA:3197
HP:0000707	Abnormality of the nervous system	2741	GLRA1	OMIM:149400
HP:0000707	Abnormality of the nervous system	10243	GPHN	ORPHA:3197
HP:0000707	Abnormality of the nervous system	10243	GPHN	OMIM:149400
HP:0000707	Abnormality of the nervous system	84896	ATAD1	ORPHA:3197
HP:0000707	Abnormality of the nervous system	84896	ATAD1	OMIM:618011
HP:0000707	Abnormality of the nervous system	9152	SLC6A5	ORPHA:3197
HP:0000707	Abnormality of the nervous system	27316	RBMX	OMIM:309555
HP:0000707	Abnormality of the nervous system	27316	RBMX	ORPHA:85286
HP:0000707	Abnormality of the nervous system	11342	RNF13	OMIM:618379
HP:0000707	Abnormality of the nervous system	11342	RNF13	ORPHA:544503
HP:0000707	Abnormality of the nervous system	8802	SUCLG1	ORPHA:17
HP:0000707	Abnormality of the nervous system	6304	SATB1	OMIM:619228
HP:0000707	Abnormality of the nervous system	6304	SATB1	OMIM:619229
HP:0000707	Abnormality of the nervous system	594	BCKDHB	OMIM:620698
HP:0000707	Abnormality of the nervous system	220296	HEPACAM	OMIM:613925
HP:0000707	Abnormality of the nervous system	220296	HEPACAM	OMIM:613926
HP:0000707	Abnormality of the nervous system	220296	HEPACAM	ORPHA:210548
HP:0000707	Abnormality of the nervous system	220296	HEPACAM	OMIM:604004
HP:0000707	Abnormality of the nervous system	8883	NAE1	OMIM:620210
HP:0000707	Abnormality of the nervous system	4763	NF1	ORPHA:97685
HP:0000707	Abnormality of the nervous system	4763	NF1	ORPHA:139474
HP:0000707	Abnormality of the nervous system	4763	NF1	ORPHA:363700
HP:0000707	Abnormality of the nervous system	4763	NF1	OMIM:162200
HP:0000707	Abnormality of the nervous system	26040	SETBP1	ORPHA:798
HP:0000707	Abnormality of the nervous system	26040	SETBP1	OMIM:616078
HP:0000707	Abnormality of the nervous system	26040	SETBP1	OMIM:269150
HP:0000707	Abnormality of the nervous system	83480	PUS3	OMIM:617051
HP:0000707	Abnormality of the nervous system	83480	PUS3	ORPHA:488627
HP:0000707	Abnormality of the nervous system	9197	SLC33A1	ORPHA:171863
HP:0000707	Abnormality of the nervous system	9197	SLC33A1	OMIM:614482
HP:0000707	Abnormality of the nervous system	4158	MC2R	OMIM:202200
HP:0000707	Abnormality of the nervous system	54809	SAMD9	OMIM:617053
HP:0000707	Abnormality of the nervous system	8452	CUL3	OMIM:619239
HP:0000707	Abnormality of the nervous system	3032	HADHB	ORPHA:746
HP:0000707	Abnormality of the nervous system	3032	HADHB	OMIM:620300
HP:0000707	Abnormality of the nervous system	3030	HADHA	ORPHA:746
HP:0000707	Abnormality of the nervous system	3030	HADHA	ORPHA:5
HP:0000707	Abnormality of the nervous system	2218	FKTN	OMIM:253800
HP:0000707	Abnormality of the nervous system	2218	FKTN	ORPHA:272
HP:0000707	Abnormality of the nervous system	2218	FKTN	ORPHA:588
HP:0000707	Abnormality of the nervous system	2218	FKTN	OMIM:236670
HP:0000707	Abnormality of the nervous system	2218	FKTN	ORPHA:899
HP:0000707	Abnormality of the nervous system	80184	CEP290	OMIM:611755
HP:0000707	Abnormality of the nervous system	80184	CEP290	ORPHA:65
HP:0000707	Abnormality of the nervous system	80184	CEP290	ORPHA:2318
HP:0000707	Abnormality of the nervous system	80184	CEP290	ORPHA:110
HP:0000707	Abnormality of the nervous system	80036	TRPM3	OMIM:620224
HP:0000707	Abnormality of the nervous system	4221	MEN1	ORPHA:97279
HP:0000707	Abnormality of the nervous system	4221	MEN1	ORPHA:2965
HP:0000707	Abnormality of the nervous system	7528	YY1	ORPHA:97279
HP:0000707	Abnormality of the nervous system	207	AKT1	ORPHA:744
HP:0000707	Abnormality of the nervous system	207	AKT1	ORPHA:201
HP:0000707	Abnormality of the nervous system	207	AKT1	ORPHA:2495
HP:0000707	Abnormality of the nervous system	207	AKT1	OMIM:615109
HP:0000707	Abnormality of the nervous system	162417	NAGS	OMIM:237310
HP:0000707	Abnormality of the nervous system	162417	NAGS	ORPHA:927
HP:0000707	Abnormality of the nervous system	215	ABCD1	ORPHA:369942
HP:0000707	Abnormality of the nervous system	215	ABCD1	OMIM:300100
HP:0000707	Abnormality of the nervous system	215	ABCD1	ORPHA:139396
HP:0000707	Abnormality of the nervous system	10134	BCAP31	ORPHA:369942
HP:0000707	Abnormality of the nervous system	10134	BCAP31	OMIM:300475
HP:0000707	Abnormality of the nervous system	55624	POMGNT1	ORPHA:370959
HP:0000707	Abnormality of the nervous system	55624	POMGNT1	OMIM:253280
HP:0000707	Abnormality of the nervous system	55624	POMGNT1	ORPHA:588
HP:0000707	Abnormality of the nervous system	55624	POMGNT1	ORPHA:899
HP:0000707	Abnormality of the nervous system	51360	MBTPS2	OMIM:308205
HP:0000707	Abnormality of the nervous system	51360	MBTPS2	ORPHA:659
HP:0000707	Abnormality of the nervous system	51360	MBTPS2	ORPHA:2273
HP:0000707	Abnormality of the nervous system	7204	TRIO	OMIM:617061
HP:0000707	Abnormality of the nervous system	7204	TRIO	ORPHA:476126
HP:0000707	Abnormality of the nervous system	7204	TRIO	OMIM:618825
HP:0000707	Abnormality of the nervous system	57477	SHROOM4	ORPHA:85288
HP:0000707	Abnormality of the nervous system	9326	ZNHIT3	OMIM:260565
HP:0000707	Abnormality of the nervous system	9326	ZNHIT3	ORPHA:2836
HP:0000707	Abnormality of the nervous system	55640	FLVCR2	OMIM:225790
HP:0000707	Abnormality of the nervous system	23112	TNRC6B	OMIM:619243
HP:0000707	Abnormality of the nervous system	91875	TTC5	OMIM:619244
HP:0000707	Abnormality of the nervous system	23096	IQSEC2	OMIM:309530
HP:0000707	Abnormality of the nervous system	23096	IQSEC2	ORPHA:819
HP:0000707	Abnormality of the nervous system	23096	IQSEC2	ORPHA:397933
HP:0000707	Abnormality of the nervous system	23096	IQSEC2	ORPHA:217377
HP:0000707	Abnormality of the nervous system	8450	CUL4B	ORPHA:85293
HP:0000707	Abnormality of the nervous system	8450	CUL4B	OMIM:300354
HP:0000707	Abnormality of the nervous system	6853	SYN1	ORPHA:85294
HP:0000707	Abnormality of the nervous system	6853	SYN1	OMIM:300491
HP:0000707	Abnormality of the nervous system	5625	PRODH	OMIM:239500
HP:0000707	Abnormality of the nervous system	5625	PRODH	ORPHA:419
HP:0000707	Abnormality of the nervous system	93587	TRMT10A	ORPHA:391408
HP:0000707	Abnormality of the nervous system	93587	TRMT10A	OMIM:616033
HP:0000707	Abnormality of the nervous system	84919	PPP1R15B	ORPHA:391408
HP:0000707	Abnormality of the nervous system	84919	PPP1R15B	OMIM:616817
HP:0000707	Abnormality of the nervous system	2799	GNS	OMIM:252940
HP:0000707	Abnormality of the nervous system	55670	PEX26	ORPHA:772
HP:0000707	Abnormality of the nervous system	55670	PEX26	ORPHA:44
HP:0000707	Abnormality of the nervous system	55670	PEX26	OMIM:614872
HP:0000707	Abnormality of the nervous system	55670	PEX26	ORPHA:912
HP:0000707	Abnormality of the nervous system	5824	PEX19	ORPHA:772
HP:0000707	Abnormality of the nervous system	5824	PEX19	ORPHA:44
HP:0000707	Abnormality of the nervous system	5824	PEX19	OMIM:614886
HP:0000707	Abnormality of the nervous system	5824	PEX19	ORPHA:912
HP:0000707	Abnormality of the nervous system	5828	PEX2	ORPHA:772
HP:0000707	Abnormality of the nervous system	5828	PEX2	ORPHA:44
HP:0000707	Abnormality of the nervous system	5828	PEX2	OMIM:614866
HP:0000707	Abnormality of the nervous system	5828	PEX2	ORPHA:912
HP:0000707	Abnormality of the nervous system	8504	PEX3	ORPHA:772
HP:0000707	Abnormality of the nervous system	8504	PEX3	ORPHA:44
HP:0000707	Abnormality of the nervous system	8504	PEX3	OMIM:614882
HP:0000707	Abnormality of the nervous system	8504	PEX3	ORPHA:912
HP:0000707	Abnormality of the nervous system	9409	PEX16	ORPHA:772
HP:0000707	Abnormality of the nervous system	9409	PEX16	ORPHA:44
HP:0000707	Abnormality of the nervous system	9409	PEX16	OMIM:614876
HP:0000707	Abnormality of the nervous system	9409	PEX16	ORPHA:912
HP:0000707	Abnormality of the nervous system	5190	PEX6	ORPHA:772
HP:0000707	Abnormality of the nervous system	5190	PEX6	ORPHA:44
HP:0000707	Abnormality of the nervous system	5190	PEX6	OMIM:614862
HP:0000707	Abnormality of the nervous system	5190	PEX6	OMIM:614863
HP:0000707	Abnormality of the nervous system	5190	PEX6	ORPHA:912
HP:0000707	Abnormality of the nervous system	8799	PEX11B	ORPHA:772
HP:0000707	Abnormality of the nervous system	8799	PEX11B	ORPHA:44
HP:0000707	Abnormality of the nervous system	8799	PEX11B	ORPHA:912
HP:0000707	Abnormality of the nervous system	5830	PEX5	ORPHA:772
HP:0000707	Abnormality of the nervous system	5830	PEX5	ORPHA:44
HP:0000707	Abnormality of the nervous system	5830	PEX5	OMIM:214110
HP:0000707	Abnormality of the nervous system	5830	PEX5	OMIM:616716
HP:0000707	Abnormality of the nervous system	5830	PEX5	OMIM:202370
HP:0000707	Abnormality of the nervous system	5830	PEX5	ORPHA:912
HP:0000707	Abnormality of the nervous system	5189	PEX1	ORPHA:772
HP:0000707	Abnormality of the nervous system	5189	PEX1	ORPHA:44
HP:0000707	Abnormality of the nervous system	5189	PEX1	OMIM:214100
HP:0000707	Abnormality of the nervous system	5189	PEX1	OMIM:601539
HP:0000707	Abnormality of the nervous system	5189	PEX1	ORPHA:912
HP:0000707	Abnormality of the nervous system	5193	PEX12	ORPHA:772
HP:0000707	Abnormality of the nervous system	5193	PEX12	ORPHA:44
HP:0000707	Abnormality of the nervous system	5193	PEX12	OMIM:614859
HP:0000707	Abnormality of the nervous system	5193	PEX12	ORPHA:912
HP:0000707	Abnormality of the nervous system	5194	PEX13	ORPHA:772
HP:0000707	Abnormality of the nervous system	5194	PEX13	ORPHA:44
HP:0000707	Abnormality of the nervous system	5194	PEX13	OMIM:614883
HP:0000707	Abnormality of the nervous system	5194	PEX13	ORPHA:912
HP:0000707	Abnormality of the nervous system	5195	PEX14	ORPHA:772
HP:0000707	Abnormality of the nervous system	5195	PEX14	ORPHA:44
HP:0000707	Abnormality of the nervous system	5195	PEX14	OMIM:614887
HP:0000707	Abnormality of the nervous system	5195	PEX14	ORPHA:912
HP:0000707	Abnormality of the nervous system	5192	PEX10	ORPHA:772
HP:0000707	Abnormality of the nervous system	5192	PEX10	ORPHA:44
HP:0000707	Abnormality of the nervous system	5192	PEX10	OMIM:614870
HP:0000707	Abnormality of the nervous system	5192	PEX10	ORPHA:912
HP:0000707	Abnormality of the nervous system	2658	GDF2	ORPHA:774
HP:0000707	Abnormality of the nervous system	94	ACVRL1	ORPHA:774
HP:0000707	Abnormality of the nervous system	94	ACVRL1	OMIM:600376
HP:0000707	Abnormality of the nervous system	4089	SMAD4	ORPHA:774
HP:0000707	Abnormality of the nervous system	4089	SMAD4	OMIM:139210
HP:0000707	Abnormality of the nervous system	2022	ENG	ORPHA:774
HP:0000707	Abnormality of the nervous system	2022	ENG	OMIM:187300
HP:0000707	Abnormality of the nervous system	2022	ENG	ORPHA:231160
HP:0000707	Abnormality of the nervous system	201595	STT3B	ORPHA:370924
HP:0000707	Abnormality of the nervous system	201595	STT3B	OMIM:615597
HP:0000707	Abnormality of the nervous system	6748	SSR4	ORPHA:370927
HP:0000707	Abnormality of the nervous system	6748	SSR4	OMIM:300934
HP:0000707	Abnormality of the nervous system	10084	PQBP1	OMIM:309500
HP:0000707	Abnormality of the nervous system	10084	PQBP1	ORPHA:93947
HP:0000707	Abnormality of the nervous system	340533	NEXMIF	ORPHA:85277
HP:0000707	Abnormality of the nervous system	10479	SLC9A6	ORPHA:85278
HP:0000707	Abnormality of the nervous system	10479	SLC9A6	OMIM:300243
HP:0000707	Abnormality of the nervous system	8242	KDM5C	ORPHA:85279
HP:0000707	Abnormality of the nervous system	8242	KDM5C	OMIM:300534
HP:0000707	Abnormality of the nervous system	10273	STUB1	ORPHA:412057
HP:0000707	Abnormality of the nervous system	8831	SYNGAP1	OMIM:612621
HP:0000707	Abnormality of the nervous system	8831	SYNGAP1	ORPHA:442835
HP:0000707	Abnormality of the nervous system	54187	NANS	OMIM:610442
HP:0000707	Abnormality of the nervous system	284058	KANSL1	OMIM:610443
HP:0000707	Abnormality of the nervous system	284058	KANSL1	ORPHA:363958
HP:0000707	Abnormality of the nervous system	284058	KANSL1	ORPHA:363965
HP:0000707	Abnormality of the nervous system	1968	EIF2S3	ORPHA:85282
HP:0000707	Abnormality of the nervous system	1968	EIF2S3	OMIM:300148
HP:0000707	Abnormality of the nervous system	138050	HGSNAT	OMIM:252930
HP:0000707	Abnormality of the nervous system	10020	GNE	ORPHA:3166
HP:0000707	Abnormality of the nervous system	10020	GNE	OMIM:269921
HP:0000707	Abnormality of the nervous system	81615	TMEM163	OMIM:620243
HP:0000707	Abnormality of the nervous system	1376	CPT2	ORPHA:228305
HP:0000707	Abnormality of the nervous system	1376	CPT2	ORPHA:228308
HP:0000707	Abnormality of the nervous system	1376	CPT2	OMIM:600649
HP:0000707	Abnormality of the nervous system	1376	CPT2	OMIM:614212
HP:0000707	Abnormality of the nervous system	1376	CPT2	OMIM:608836
HP:0000707	Abnormality of the nervous system	10079	ATP9A	OMIM:620242
HP:0000707	Abnormality of the nervous system	124093	CCDC78	OMIM:614807
HP:0000707	Abnormality of the nervous system	5903	RANBP2	OMIM:608033
HP:0000707	Abnormality of the nervous system	5903	RANBP2	ORPHA:88619
HP:0000707	Abnormality of the nervous system	126129	CPT1C	ORPHA:444099
HP:0000707	Abnormality of the nervous system	1893	ECM1	OMIM:247100
HP:0000707	Abnormality of the nervous system	1893	ECM1	ORPHA:530
HP:0000707	Abnormality of the nervous system	27445	PCLO	OMIM:608027
HP:0000707	Abnormality of the nervous system	1373	CPS1	OMIM:237300
HP:0000707	Abnormality of the nervous system	1373	CPS1	ORPHA:147
HP:0000707	Abnormality of the nervous system	5696	PSMB8	OMIM:256040
HP:0000707	Abnormality of the nervous system	4669	NAGLU	OMIM:252920
HP:0000707	Abnormality of the nervous system	2260	FGFR1	ORPHA:3157
HP:0000707	Abnormality of the nervous system	2260	FGFR1	ORPHA:2396
HP:0000707	Abnormality of the nervous system	2260	FGFR1	OMIM:613001
HP:0000707	Abnormality of the nervous system	2260	FGFR1	ORPHA:220386
HP:0000707	Abnormality of the nervous system	2260	FGFR1	ORPHA:280200
HP:0000707	Abnormality of the nervous system	2260	FGFR1	ORPHA:93924
HP:0000707	Abnormality of the nervous system	2260	FGFR1	ORPHA:478
HP:0000707	Abnormality of the nervous system	128674	PROKR2	ORPHA:3157
HP:0000707	Abnormality of the nervous system	128674	PROKR2	ORPHA:95496
HP:0000707	Abnormality of the nervous system	128674	PROKR2	OMIM:244200
HP:0000707	Abnormality of the nervous system	128674	PROKR2	ORPHA:478
HP:0000707	Abnormality of the nervous system	6657	SOX2	ORPHA:3157
HP:0000707	Abnormality of the nervous system	6658	SOX3	ORPHA:3157
HP:0000707	Abnormality of the nervous system	9915	ARNT2	ORPHA:3157
HP:0000707	Abnormality of the nervous system	8820	HESX1	ORPHA:3157
HP:0000707	Abnormality of the nervous system	8820	HESX1	ORPHA:95496
HP:0000707	Abnormality of the nervous system	8820	HESX1	ORPHA:95494
HP:0000707	Abnormality of the nervous system	8820	HESX1	ORPHA:478
HP:0000707	Abnormality of the nervous system	5015	OTX2	ORPHA:3157
HP:0000707	Abnormality of the nervous system	5015	OTX2	ORPHA:95494
HP:0000707	Abnormality of the nervous system	5015	OTX2	OMIM:610125
HP:0000707	Abnormality of the nervous system	5015	OTX2	OMIM:613986
HP:0000707	Abnormality of the nervous system	283450	HECTD4	OMIM:620250
HP:0000707	Abnormality of the nervous system	5138	PDE2A	OMIM:619150
HP:0000707	Abnormality of the nervous system	5138	PDE2A	ORPHA:31709
HP:0000707	Abnormality of the nervous system	4352	MPL	ORPHA:71493
HP:0000707	Abnormality of the nervous system	7066	THPO	ORPHA:71493
HP:0000707	Abnormality of the nervous system	3717	JAK2	ORPHA:71493
HP:0000707	Abnormality of the nervous system	355	FAS	ORPHA:3261
HP:0000707	Abnormality of the nervous system	355	FAS	ORPHA:117
HP:0000707	Abnormality of the nervous system	356	FASLG	ORPHA:3261
HP:0000707	Abnormality of the nervous system	843	CASP10	ORPHA:3261
HP:0000707	Abnormality of the nervous system	6535	SLC6A8	OMIM:300352
HP:0000707	Abnormality of the nervous system	6535	SLC6A8	ORPHA:52503
HP:0000707	Abnormality of the nervous system	26960	NBEA	OMIM:619157
HP:0000707	Abnormality of the nervous system	6309	SC5D	ORPHA:46059
HP:0000707	Abnormality of the nervous system	894	CCND2	ORPHA:83473
HP:0000707	Abnormality of the nervous system	5296	PIK3R2	ORPHA:83473
HP:0000707	Abnormality of the nervous system	5296	PIK3R2	OMIM:603387
HP:0000707	Abnormality of the nervous system	10000	AKT3	ORPHA:83473
HP:0000707	Abnormality of the nervous system	10000	AKT3	ORPHA:99802
HP:0000707	Abnormality of the nervous system	10000	AKT3	OMIM:615937
HP:0000707	Abnormality of the nervous system	5885	RAD21	OMIM:614701
HP:0000707	Abnormality of the nervous system	5885	RAD21	ORPHA:199
HP:0000707	Abnormality of the nervous system	1593	CYP27A1	OMIM:213700
HP:0000707	Abnormality of the nervous system	1593	CYP27A1	ORPHA:909
HP:0000707	Abnormality of the nervous system	25821	MTO1	OMIM:614702
HP:0000707	Abnormality of the nervous system	2896	GRN	OMIM:614706
HP:0000707	Abnormality of the nervous system	55775	TDP1	ORPHA:94124
HP:0000707	Abnormality of the nervous system	55775	TDP1	OMIM:607250
HP:0000707	Abnormality of the nervous system	51816	ADA2	ORPHA:820
HP:0000707	Abnormality of the nervous system	51816	ADA2	OMIM:182410
HP:0000707	Abnormality of the nervous system	80144	FRAS1	OMIM:219000
HP:0000707	Abnormality of the nervous system	5428	POLG	ORPHA:94125
HP:0000707	Abnormality of the nervous system	5428	POLG	ORPHA:70595
HP:0000707	Abnormality of the nervous system	5428	POLG	ORPHA:254892
HP:0000707	Abnormality of the nervous system	5428	POLG	OMIM:613662
HP:0000707	Abnormality of the nervous system	5428	POLG	OMIM:607459
HP:0000707	Abnormality of the nervous system	64324	NSD1	ORPHA:821
HP:0000707	Abnormality of the nervous system	64324	NSD1	OMIM:117550
HP:0000707	Abnormality of the nervous system	64324	NSD1	ORPHA:228415
HP:0000707	Abnormality of the nervous system	10297	APC2	ORPHA:821
HP:0000707	Abnormality of the nervous system	10297	APC2	OMIM:617169
HP:0000707	Abnormality of the nervous system	613	BCR	ORPHA:261330
HP:0000707	Abnormality of the nervous system	1399	CRKL	ORPHA:261330
HP:0000707	Abnormality of the nervous system	5594	MAPK1	ORPHA:261330
HP:0000707	Abnormality of the nervous system	6392	SDHD	OMIM:619167
HP:0000707	Abnormality of the nervous system	6392	SDHD	ORPHA:3208
HP:0000707	Abnormality of the nervous system	6392	SDHD	ORPHA:201
HP:0000707	Abnormality of the nervous system	79947	DHDDS	OMIM:613861
HP:0000707	Abnormality of the nervous system	79947	DHDDS	ORPHA:442835
HP:0000707	Abnormality of the nervous system	9640	ZNF592	ORPHA:83472
HP:0000707	Abnormality of the nervous system	84942	WDR73	ORPHA:83472
HP:0000707	Abnormality of the nervous system	84942	WDR73	ORPHA:2065
HP:0000707	Abnormality of the nervous system	84942	WDR73	OMIM:251300
HP:0000707	Abnormality of the nervous system	224	ALDH3A2	ORPHA:816
HP:0000707	Abnormality of the nervous system	224	ALDH3A2	OMIM:270200
HP:0000707	Abnormality of the nervous system	2314	FLII	ORPHA:819
HP:0000707	Abnormality of the nervous system	10743	RAI1	ORPHA:819
HP:0000707	Abnormality of the nervous system	10743	RAI1	OMIM:182290
HP:0000707	Abnormality of the nervous system	10522	DEAF1	ORPHA:819
HP:0000707	Abnormality of the nervous system	10522	DEAF1	ORPHA:468620
HP:0000707	Abnormality of the nervous system	1717	DHCR7	ORPHA:818
HP:0000707	Abnormality of the nervous system	1717	DHCR7	OMIM:270400
HP:0000707	Abnormality of the nervous system	5818	NECTIN1	ORPHA:3253
HP:0000707	Abnormality of the nervous system	4758	NEU1	ORPHA:812
HP:0000707	Abnormality of the nervous system	4758	NEU1	ORPHA:93399
HP:0000707	Abnormality of the nervous system	4758	NEU1	ORPHA:93400
HP:0000707	Abnormality of the nervous system	4758	NEU1	OMIM:256550
HP:0000707	Abnormality of the nervous system	2475	MTOR	ORPHA:99802
HP:0000707	Abnormality of the nervous system	2475	MTOR	ORPHA:457485
HP:0000707	Abnormality of the nervous system	2475	MTOR	OMIM:616638
HP:0000707	Abnormality of the nervous system	150468	CKAP2L	ORPHA:3255
HP:0000707	Abnormality of the nervous system	150468	CKAP2L	OMIM:272440
HP:0000707	Abnormality of the nervous system	5979	RET	ORPHA:99803
HP:0000707	Abnormality of the nervous system	429	ASCL1	ORPHA:99803
HP:0000707	Abnormality of the nervous system	8929	PHOX2B	ORPHA:99803
HP:0000707	Abnormality of the nervous system	8929	PHOX2B	ORPHA:661
HP:0000707	Abnormality of the nervous system	8929	PHOX2B	ORPHA:2151
HP:0000707	Abnormality of the nervous system	29072	SETD2	OMIM:620155
HP:0000707	Abnormality of the nervous system	29072	SETD2	OMIM:616831
HP:0000707	Abnormality of the nervous system	26153	KIF26A	OMIM:620156
HP:0000707	Abnormality of the nervous system	58528	RRAGD	OMIM:620152
HP:0000707	Abnormality of the nervous system	1185	CLCN6	OMIM:619173
HP:0000707	Abnormality of the nervous system	3735	KARS1	ORPHA:3240
HP:0000707	Abnormality of the nervous system	3735	KARS1	OMIM:619147
HP:0000707	Abnormality of the nervous system	56992	KIF15	ORPHA:261323
HP:0000707	Abnormality of the nervous system	4718	NDUFC2	OMIM:619170
HP:0000707	Abnormality of the nervous system	2483	FRG1	OMIM:158900
HP:0000707	Abnormality of the nervous system	2483	FRG1	ORPHA:269
HP:0000707	Abnormality of the nervous system	1738	DLD	ORPHA:2394
HP:0000707	Abnormality of the nervous system	1738	DLD	OMIM:246900
HP:0000707	Abnormality of the nervous system	4001	LMNB1	OMIM:619179
HP:0000707	Abnormality of the nervous system	55157	DARS2	ORPHA:137898
HP:0000707	Abnormality of the nervous system	412	STS	ORPHA:281090
HP:0000707	Abnormality of the nervous system	93627	TBCK	OMIM:616900
HP:0000707	Abnormality of the nervous system	93627	TBCK	ORPHA:488632
HP:0000707	Abnormality of the nervous system	129607	CMPK2	OMIM:621018
HP:0000707	Abnormality of the nervous system	55858	TMEM165	OMIM:614727
HP:0000707	Abnormality of the nervous system	3778	KCNMA1	OMIM:609446
HP:0000707	Abnormality of the nervous system	64087	MCCC2	OMIM:210210
HP:0000707	Abnormality of the nervous system	546	ATRX	ORPHA:847
HP:0000707	Abnormality of the nervous system	546	ATRX	OMIM:309580
HP:0000707	Abnormality of the nervous system	546	ATRX	OMIM:301040
HP:0000707	Abnormality of the nervous system	54675	CRLS1	OMIM:620167
HP:0000707	Abnormality of the nervous system	9184	BUB3	ORPHA:1052
HP:0000707	Abnormality of the nervous system	699	BUB1	ORPHA:1052
HP:0000707	Abnormality of the nervous system	9702	CEP57	ORPHA:1052
HP:0000707	Abnormality of the nervous system	9319	TRIP13	ORPHA:1052
HP:0000707	Abnormality of the nervous system	9319	TRIP13	OMIM:617598
HP:0000707	Abnormality of the nervous system	701	BUB1B	ORPHA:1052
HP:0000707	Abnormality of the nervous system	701	BUB1B	OMIM:257300
HP:0000707	Abnormality of the nervous system	23036	ZNF292	OMIM:619188
HP:0000707	Abnormality of the nervous system	55148	UBR7	OMIM:619189
HP:0000707	Abnormality of the nervous system	23230	VPS13A	ORPHA:2388
HP:0000707	Abnormality of the nervous system	23230	VPS13A	OMIM:200150
HP:0000707	Abnormality of the nervous system	84342	COG8	ORPHA:95428
HP:0000707	Abnormality of the nervous system	84342	COG8	OMIM:611182
HP:0000707	Abnormality of the nervous system	11284	PNKP	OMIM:613402
HP:0000707	Abnormality of the nervous system	11284	PNKP	ORPHA:1934
HP:0000707	Abnormality of the nervous system	56922	MCCC1	OMIM:210200
HP:0000707	Abnormality of the nervous system	11160	ERLIN2	OMIM:611225
HP:0000707	Abnormality of the nervous system	11160	ERLIN2	OMIM:620512
HP:0000707	Abnormality of the nervous system	11160	ERLIN2	ORPHA:209951
HP:0000707	Abnormality of the nervous system	54872	PIGG	OMIM:616917
HP:0000707	Abnormality of the nervous system	54872	PIGG	ORPHA:280
HP:0000707	Abnormality of the nervous system	54872	PIGG	ORPHA:488635
HP:0000707	Abnormality of the nervous system	25942	SIN3A	OMIM:613406
HP:0000707	Abnormality of the nervous system	25942	SIN3A	ORPHA:500166
HP:0000707	Abnormality of the nervous system	175	AGA	ORPHA:93
HP:0000707	Abnormality of the nervous system	175	AGA	OMIM:208400
HP:0000707	Abnormality of the nervous system	7468	NSD2	OMIM:194190
HP:0000707	Abnormality of the nervous system	7468	NSD2	ORPHA:280
HP:0000707	Abnormality of the nervous system	10815	CPLX1	OMIM:194190
HP:0000707	Abnormality of the nervous system	10815	CPLX1	ORPHA:280
HP:0000707	Abnormality of the nervous system	10815	CPLX1	ORPHA:352582
HP:0000707	Abnormality of the nervous system	10815	CPLX1	OMIM:617976
HP:0000707	Abnormality of the nervous system	1487	CTBP1	OMIM:194190
HP:0000707	Abnormality of the nervous system	1487	CTBP1	ORPHA:280
HP:0000707	Abnormality of the nervous system	53834	FGFRL1	OMIM:194190
HP:0000707	Abnormality of the nervous system	3954	LETM1	OMIM:194190
HP:0000707	Abnormality of the nervous system	3954	LETM1	ORPHA:280
HP:0000707	Abnormality of the nervous system	3954	LETM1	OMIM:620089
HP:0000707	Abnormality of the nervous system	84947	SERAC1	OMIM:614739
HP:0000707	Abnormality of the nervous system	23530	NNT	OMIM:614736
HP:0000707	Abnormality of the nervous system	383	ARG1	ORPHA:90
HP:0000707	Abnormality of the nervous system	383	ARG1	OMIM:207800
HP:0000707	Abnormality of the nervous system	3769	KCNJ13	ORPHA:65
HP:0000707	Abnormality of the nervous system	343035	RD3	ORPHA:65
HP:0000707	Abnormality of the nervous system	145226	RDH12	ORPHA:65
HP:0000707	Abnormality of the nervous system	1406	CRX	ORPHA:65
HP:0000707	Abnormality of the nervous system	64802	NMNAT1	ORPHA:65
HP:0000707	Abnormality of the nervous system	57096	RPGRIP1	ORPHA:65
HP:0000707	Abnormality of the nervous system	10383	TUBB4B	ORPHA:65
HP:0000707	Abnormality of the nervous system	9742	IFT140	ORPHA:65
HP:0000707	Abnormality of the nervous system	9742	IFT140	OMIM:266920
HP:0000707	Abnormality of the nervous system	85015	USP45	ORPHA:65
HP:0000707	Abnormality of the nervous system	6121	RPE65	ORPHA:65
HP:0000707	Abnormality of the nervous system	23418	CRB1	ORPHA:65
HP:0000707	Abnormality of the nervous system	5130	PCYT1A	ORPHA:65
HP:0000707	Abnormality of the nervous system	9657	IQCB1	ORPHA:65
HP:0000707	Abnormality of the nervous system	23746	AIPL1	ORPHA:65
HP:0000707	Abnormality of the nervous system	3000	GUCY2D	ORPHA:65
HP:0000707	Abnormality of the nervous system	9227	LRAT	ORPHA:65
HP:0000707	Abnormality of the nervous system	55812	SPATA7	ORPHA:65
HP:0000707	Abnormality of the nervous system	7287	TULP1	ORPHA:65
HP:0000707	Abnormality of the nervous system	167691	LCA5	ORPHA:65
HP:0000707	Abnormality of the nervous system	3614	IMPDH1	ORPHA:65
HP:0000707	Abnormality of the nervous system	7025	NR2F1	ORPHA:401777
HP:0000707	Abnormality of the nervous system	56006	SMG9	OMIM:616920
HP:0000707	Abnormality of the nervous system	51660	MPC1	OMIM:614741
HP:0000707	Abnormality of the nervous system	27286	SRPX2	ORPHA:163721
HP:0000707	Abnormality of the nervous system	27286	SRPX2	OMIM:300643
HP:0000707	Abnormality of the nervous system	27286	SRPX2	ORPHA:98889
HP:0000707	Abnormality of the nervous system	2903	GRIN2A	ORPHA:163721
HP:0000707	Abnormality of the nervous system	2903	GRIN2A	ORPHA:725
HP:0000707	Abnormality of the nervous system	2903	GRIN2A	OMIM:245570
HP:0000707	Abnormality of the nervous system	2903	GRIN2A	ORPHA:98818
HP:0000707	Abnormality of the nervous system	116442	RAB39B	ORPHA:2379
HP:0000707	Abnormality of the nervous system	116442	RAB39B	OMIM:311510
HP:0000707	Abnormality of the nervous system	116442	RAB39B	OMIM:300271
HP:0000707	Abnormality of the nervous system	91754	NEK9	ORPHA:64754
HP:0000707	Abnormality of the nervous system	10846	PDE10A	OMIM:616921
HP:0000707	Abnormality of the nervous system	84720	PIGO	OMIM:614749
HP:0000707	Abnormality of the nervous system	84720	PIGO	ORPHA:247262
HP:0000707	Abnormality of the nervous system	89884	LHX4	ORPHA:95496
HP:0000707	Abnormality of the nervous system	89884	LHX4	ORPHA:95494
HP:0000707	Abnormality of the nervous system	55717	WDR11	ORPHA:95496
HP:0000707	Abnormality of the nervous system	55717	WDR11	ORPHA:478
HP:0000707	Abnormality of the nervous system	6091	ROBO1	ORPHA:95496
HP:0000707	Abnormality of the nervous system	50937	CDON	ORPHA:95496
HP:0000707	Abnormality of the nervous system	50937	CDON	ORPHA:220386
HP:0000707	Abnormality of the nervous system	50937	CDON	ORPHA:280200
HP:0000707	Abnormality of the nervous system	50937	CDON	ORPHA:93926
HP:0000707	Abnormality of the nervous system	50937	CDON	ORPHA:93924
HP:0000707	Abnormality of the nervous system	50937	CDON	ORPHA:93925
HP:0000707	Abnormality of the nervous system	23432	GPR161	ORPHA:95496
HP:0000707	Abnormality of the nervous system	80025	PANK2	OMIM:234200
HP:0000707	Abnormality of the nervous system	80025	PANK2	ORPHA:216866
HP:0000707	Abnormality of the nervous system	23137	SMC5	OMIM:620185
HP:0000707	Abnormality of the nervous system	79759	ZNF668	OMIM:620194
HP:0000707	Abnormality of the nervous system	283209	PGM2L1	OMIM:620191
HP:0000707	Abnormality of the nervous system	5626	PROP1	ORPHA:95494
HP:0000707	Abnormality of the nervous system	5626	PROP1	OMIM:262600
HP:0000707	Abnormality of the nervous system	3170	FOXA2	ORPHA:95494
HP:0000707	Abnormality of the nervous system	5449	POU1F1	ORPHA:95494
HP:0000707	Abnormality of the nervous system	8050	PDHX	OMIM:245349
HP:0000707	Abnormality of the nervous system	8050	PDHX	ORPHA:255182
HP:0000707	Abnormality of the nervous system	57465	TBC1D24	ORPHA:163727
HP:0000707	Abnormality of the nervous system	57465	TBC1D24	OMIM:605021
HP:0000707	Abnormality of the nervous system	57465	TBC1D24	ORPHA:352582
HP:0000707	Abnormality of the nervous system	57465	TBC1D24	OMIM:220500
HP:0000707	Abnormality of the nervous system	23522	KAT6B	ORPHA:85201
HP:0000707	Abnormality of the nervous system	23522	KAT6B	ORPHA:3047
HP:0000707	Abnormality of the nervous system	4256	MGP	ORPHA:85202
HP:0000707	Abnormality of the nervous system	4256	MGP	OMIM:245150
HP:0000707	Abnormality of the nervous system	23261	CAMTA1	OMIM:614756
HP:0000707	Abnormality of the nervous system	2255	FGF10	ORPHA:2363
HP:0000707	Abnormality of the nervous system	112476	PRRT2	OMIM:128200
HP:0000707	Abnormality of the nervous system	112476	PRRT2	ORPHA:98811
HP:0000707	Abnormality of the nervous system	112476	PRRT2	ORPHA:31709
HP:0000707	Abnormality of the nervous system	112476	PRRT2	ORPHA:98809
HP:0000707	Abnormality of the nervous system	6605	SMARCE1	OMIM:616938
HP:0000707	Abnormality of the nervous system	6605	SMARCE1	ORPHA:1465
HP:0000707	Abnormality of the nervous system	6605	SMARCE1	ORPHA:2495
HP:0000707	Abnormality of the nervous system	388015	RTL1	ORPHA:96334
HP:0000707	Abnormality of the nervous system	8788	DLK1	ORPHA:96334
HP:0000707	Abnormality of the nervous system	55384	MEG3	ORPHA:96334
HP:0000707	Abnormality of the nervous system	55343	SLC35C1	ORPHA:99843
HP:0000707	Abnormality of the nervous system	158	ADSL	ORPHA:46
HP:0000707	Abnormality of the nervous system	158	ADSL	OMIM:103050
HP:0000707	Abnormality of the nervous system	51322	WAC	ORPHA:284169
HP:0000707	Abnormality of the nervous system	51322	WAC	OMIM:616708
HP:0000707	Abnormality of the nervous system	1013	CDH15	OMIM:612580
HP:0000707	Abnormality of the nervous system	10735	STAG2	ORPHA:521258
HP:0000707	Abnormality of the nervous system	10735	STAG2	ORPHA:220386
HP:0000707	Abnormality of the nervous system	10735	STAG2	ORPHA:93925
HP:0000707	Abnormality of the nervous system	10735	STAG2	OMIM:301043
HP:0000707	Abnormality of the nervous system	6389	SDHA	ORPHA:3208
HP:0000707	Abnormality of the nervous system	6389	SDHA	OMIM:252011
HP:0000707	Abnormality of the nervous system	6390	SDHB	ORPHA:3208
HP:0000707	Abnormality of the nervous system	6390	SDHB	ORPHA:201
HP:0000707	Abnormality of the nervous system	644096	SDHAF1	ORPHA:3208
HP:0000707	Abnormality of the nervous system	1374	CPT1A	OMIM:255120
HP:0000707	Abnormality of the nervous system	1374	CPT1A	ORPHA:156
HP:0000707	Abnormality of the nervous system	6611	SMS	OMIM:309583
HP:0000707	Abnormality of the nervous system	3458	IFNG	ORPHA:805
HP:0000707	Abnormality of the nervous system	3458	IFNG	OMIM:613254
HP:0000707	Abnormality of the nervous system	7248	TSC1	ORPHA:805
HP:0000707	Abnormality of the nervous system	7248	TSC1	ORPHA:538
HP:0000707	Abnormality of the nervous system	7248	TSC1	OMIM:191100
HP:0000707	Abnormality of the nervous system	7249	TSC2	ORPHA:805
HP:0000707	Abnormality of the nervous system	7249	TSC2	ORPHA:538
HP:0000707	Abnormality of the nervous system	7249	TSC2	OMIM:613254
HP:0000707	Abnormality of the nervous system	5663	PSEN1	ORPHA:1020
HP:0000707	Abnormality of the nervous system	5663	PSEN1	OMIM:607822
HP:0000707	Abnormality of the nervous system	5664	PSEN2	ORPHA:1020
HP:0000707	Abnormality of the nervous system	10452	TOMM40	ORPHA:1020
HP:0000707	Abnormality of the nervous system	351	APP	ORPHA:1020
HP:0000707	Abnormality of the nervous system	351	APP	ORPHA:324713
HP:0000707	Abnormality of the nervous system	351	APP	ORPHA:100006
HP:0000707	Abnormality of the nervous system	54209	TREM2	ORPHA:1020
HP:0000707	Abnormality of the nervous system	54209	TREM2	ORPHA:2770
HP:0000707	Abnormality of the nervous system	54209	TREM2	OMIM:618193
HP:0000707	Abnormality of the nervous system	10347	ABCA7	ORPHA:1020
HP:0000707	Abnormality of the nervous system	6653	SORL1	ORPHA:1020
HP:0000707	Abnormality of the nervous system	147372	CCBE1	OMIM:235510
HP:0000707	Abnormality of the nervous system	147372	CCBE1	ORPHA:2136
HP:0000707	Abnormality of the nervous system	2776	GNAQ	ORPHA:3205
HP:0000707	Abnormality of the nervous system	2776	GNAQ	ORPHA:624
HP:0000707	Abnormality of the nervous system	2776	GNAQ	OMIM:185300
HP:0000707	Abnormality of the nervous system	6567	SLC16A2	ORPHA:59
HP:0000707	Abnormality of the nervous system	3897	L1CAM	ORPHA:1497
HP:0000707	Abnormality of the nervous system	3897	L1CAM	OMIM:304100
HP:0000707	Abnormality of the nervous system	3897	L1CAM	ORPHA:2182
HP:0000707	Abnormality of the nervous system	22907	DHX30	OMIM:617804
HP:0000707	Abnormality of the nervous system	9990	SLC12A6	ORPHA:1496
HP:0000707	Abnormality of the nervous system	9990	SLC12A6	OMIM:620068
HP:0000707	Abnormality of the nervous system	9990	SLC12A6	OMIM:218000
HP:0000707	Abnormality of the nervous system	7407	VARS1	OMIM:617802
HP:0000707	Abnormality of the nervous system	9894	TELO2	OMIM:616954
HP:0000707	Abnormality of the nervous system	9894	TELO2	ORPHA:488642
HP:0000707	Abnormality of the nervous system	57724	EPG5	ORPHA:1493
HP:0000707	Abnormality of the nervous system	57724	EPG5	OMIM:242840
HP:0000707	Abnormality of the nervous system	196528	ARID2	OMIM:617808
HP:0000707	Abnormality of the nervous system	196528	ARID2	ORPHA:1465
HP:0000707	Abnormality of the nervous system	10535	RNASEH2A	ORPHA:51
HP:0000707	Abnormality of the nervous system	10535	RNASEH2A	OMIM:610333
HP:0000707	Abnormality of the nervous system	84153	RNASEH2C	ORPHA:51
HP:0000707	Abnormality of the nervous system	25939	SAMHD1	ORPHA:51
HP:0000707	Abnormality of the nervous system	79621	RNASEH2B	ORPHA:51
HP:0000707	Abnormality of the nervous system	103	ADAR	ORPHA:51
HP:0000707	Abnormality of the nervous system	100147744	RNU7-1	ORPHA:51
HP:0000707	Abnormality of the nervous system	100147744	RNU7-1	OMIM:619487
HP:0000707	Abnormality of the nervous system	134353	LSM11	ORPHA:51
HP:0000707	Abnormality of the nervous system	134353	LSM11	OMIM:619486
HP:0000707	Abnormality of the nervous system	64135	IFIH1	ORPHA:51
HP:0000707	Abnormality of the nervous system	64135	IFIH1	OMIM:615846
HP:0000707	Abnormality of the nervous system	56052	ALG1	OMIM:608540
HP:0000707	Abnormality of the nervous system	56052	ALG1	ORPHA:79327
HP:0000707	Abnormality of the nervous system	11128	POLR3A	OMIM:607694
HP:0000707	Abnormality of the nervous system	11128	POLR3A	ORPHA:3455
HP:0000707	Abnormality of the nervous system	55703	POLR3B	OMIM:607694
HP:0000707	Abnormality of the nervous system	55703	POLR3B	OMIM:619742
HP:0000707	Abnormality of the nervous system	10075	HUWE1	OMIM:309590
HP:0000707	Abnormality of the nervous system	132	ADK	OMIM:614300
HP:0000707	Abnormality of the nervous system	2290	FOXG1	OMIM:613454
HP:0000707	Abnormality of the nervous system	2290	FOXG1	ORPHA:442835
HP:0000707	Abnormality of the nervous system	2290	FOXG1	ORPHA:261144
HP:0000707	Abnormality of the nervous system	79848	CSPP1	OMIM:615636
HP:0000707	Abnormality of the nervous system	79848	CSPP1	ORPHA:475
HP:0000707	Abnormality of the nervous system	6513	SLC2A1	OMIM:612126
HP:0000707	Abnormality of the nervous system	6513	SLC2A1	OMIM:606777
HP:0000707	Abnormality of the nervous system	6513	SLC2A1	ORPHA:168577
HP:0000707	Abnormality of the nervous system	6513	SLC2A1	OMIM:608885
HP:0000707	Abnormality of the nervous system	6513	SLC2A1	ORPHA:71277
HP:0000707	Abnormality of the nervous system	6513	SLC2A1	ORPHA:98811
HP:0000707	Abnormality of the nervous system	29123	ANKRD11	ORPHA:2332
HP:0000707	Abnormality of the nervous system	29123	ANKRD11	ORPHA:261250
HP:0000707	Abnormality of the nervous system	29123	ANKRD11	OMIM:148050
HP:0000707	Abnormality of the nervous system	9759	HDAC4	ORPHA:1001
HP:0000707	Abnormality of the nervous system	9759	HDAC4	OMIM:600430
HP:0000707	Abnormality of the nervous system	9759	HDAC4	OMIM:619797
HP:0000707	Abnormality of the nervous system	23600	AMACR	OMIM:614307
HP:0000707	Abnormality of the nervous system	23600	AMACR	ORPHA:79095
HP:0000707	Abnormality of the nervous system	50943	FOXP3	OMIM:304790
HP:0000707	Abnormality of the nervous system	5279	PIGC	OMIM:617816
HP:0000707	Abnormality of the nervous system	91147	TMEM67	OMIM:216360
HP:0000707	Abnormality of the nervous system	91147	TMEM67	ORPHA:1454
HP:0000707	Abnormality of the nervous system	91147	TMEM67	ORPHA:475
HP:0000707	Abnormality of the nervous system	26580	BSCL2	ORPHA:363400
HP:0000707	Abnormality of the nervous system	26580	BSCL2	OMIM:615924
HP:0000707	Abnormality of the nervous system	84162	BLTP1	OMIM:617822
HP:0000707	Abnormality of the nervous system	1806	DPYD	OMIM:274270
HP:0000707	Abnormality of the nervous system	1806	DPYD	ORPHA:1675
HP:0000707	Abnormality of the nervous system	2902	GRIN1	OMIM:617820
HP:0000707	Abnormality of the nervous system	2902	GRIN1	ORPHA:1934
HP:0000707	Abnormality of the nervous system	2902	GRIN1	OMIM:614254
HP:0000707	Abnormality of the nervous system	2902	GRIN1	OMIM:619814
HP:0000707	Abnormality of the nervous system	2782	GNB1	OMIM:616973
HP:0000707	Abnormality of the nervous system	2782	GNB1	ORPHA:488613
HP:0000707	Abnormality of the nervous system	8085	KMT2D	ORPHA:2322
HP:0000707	Abnormality of the nervous system	8085	KMT2D	OMIM:147920
HP:0000707	Abnormality of the nervous system	7403	KDM6A	ORPHA:2322
HP:0000707	Abnormality of the nervous system	7403	KDM6A	OMIM:300867
HP:0000707	Abnormality of the nervous system	7403	KDM6A	OMIM:147920
HP:0000707	Abnormality of the nervous system	3097	HIVEP2	OMIM:616977
HP:0000707	Abnormality of the nervous system	2561	GABRB2	OMIM:617829
HP:0000707	Abnormality of the nervous system	2561	GABRB2	ORPHA:442835
HP:0000707	Abnormality of the nervous system	6638	SNRPN	ORPHA:177904
HP:0000707	Abnormality of the nervous system	6638	SNRPN	ORPHA:177901
HP:0000707	Abnormality of the nervous system	6638	SNRPN	ORPHA:177907
HP:0000707	Abnormality of the nervous system	6638	SNRPN	ORPHA:411515
HP:0000707	Abnormality of the nervous system	6638	SNRPN	OMIM:105830
HP:0000707	Abnormality of the nervous system	6638	SNRPN	ORPHA:98754
HP:0000707	Abnormality of the nervous system	6638	SNRPN	OMIM:209850
HP:0000707	Abnormality of the nervous system	4692	NDN	ORPHA:177904
HP:0000707	Abnormality of the nervous system	4692	NDN	ORPHA:177901
HP:0000707	Abnormality of the nervous system	4692	NDN	ORPHA:98754
HP:0000707	Abnormality of the nervous system	4948	OCA2	ORPHA:177904
HP:0000707	Abnormality of the nervous system	4948	OCA2	ORPHA:177901
HP:0000707	Abnormality of the nervous system	4948	OCA2	ORPHA:98794
HP:0000707	Abnormality of the nervous system	4948	OCA2	ORPHA:98754
HP:0000707	Abnormality of the nervous system	2332	FMR1	ORPHA:449291
HP:0000707	Abnormality of the nervous system	2332	FMR1	OMIM:300624
HP:0000707	Abnormality of the nervous system	2332	FMR1	ORPHA:908
HP:0000707	Abnormality of the nervous system	55906	ZC4H2	OMIM:314580
HP:0000707	Abnormality of the nervous system	10560	SLC19A2	OMIM:249270
HP:0000707	Abnormality of the nervous system	2068	ERCC2	ORPHA:1466
HP:0000707	Abnormality of the nervous system	2068	ERCC2	ORPHA:910
HP:0000707	Abnormality of the nervous system	2067	ERCC1	ORPHA:1466
HP:0000707	Abnormality of the nervous system	2073	ERCC5	ORPHA:1466
HP:0000707	Abnormality of the nervous system	2073	ERCC5	ORPHA:910
HP:0000707	Abnormality of the nervous system	116150	NUS1	OMIM:617831
HP:0000707	Abnormality of the nervous system	116150	NUS1	ORPHA:442835
HP:0000707	Abnormality of the nervous system	6597	SMARCA4	ORPHA:1465
HP:0000707	Abnormality of the nervous system	6597	SMARCA4	OMIM:614609
HP:0000707	Abnormality of the nervous system	6598	SMARCB1	ORPHA:1465
HP:0000707	Abnormality of the nervous system	6598	SMARCB1	OMIM:614608
HP:0000707	Abnormality of the nervous system	6598	SMARCB1	ORPHA:2495
HP:0000707	Abnormality of the nervous system	6598	SMARCB1	ORPHA:99966
HP:0000707	Abnormality of the nervous system	6598	SMARCB1	ORPHA:93921
HP:0000707	Abnormality of the nervous system	6659	SOX4	ORPHA:1465
HP:0000707	Abnormality of the nervous system	8289	ARID1A	ORPHA:1465
HP:0000707	Abnormality of the nervous system	8289	ARID1A	OMIM:614607
HP:0000707	Abnormality of the nervous system	5977	DPF2	ORPHA:1465
HP:0000707	Abnormality of the nervous system	6602	SMARCD1	ORPHA:1465
HP:0000707	Abnormality of the nervous system	6664	SOX11	ORPHA:1465
HP:0000707	Abnormality of the nervous system	4358	MPV17	OMIM:256810
HP:0000707	Abnormality of the nervous system	6663	SOX10	ORPHA:163746
HP:0000707	Abnormality of the nervous system	6663	SOX10	OMIM:609136
HP:0000707	Abnormality of the nervous system	6663	SOX10	ORPHA:478
HP:0000707	Abnormality of the nervous system	2911	GRM1	ORPHA:324262
HP:0000707	Abnormality of the nervous system	2911	GRM1	OMIM:614831
HP:0000707	Abnormality of the nervous system	79583	TMEM231	ORPHA:2318
HP:0000707	Abnormality of the nervous system	79583	TMEM231	ORPHA:2754
HP:0000707	Abnormality of the nervous system	51524	TMEM138	ORPHA:2318
HP:0000707	Abnormality of the nervous system	23090	ZNF423	ORPHA:2318
HP:0000707	Abnormality of the nervous system	57545	CC2D2A	ORPHA:2318
HP:0000707	Abnormality of the nervous system	57545	CC2D2A	ORPHA:1454
HP:0000707	Abnormality of the nervous system	57545	CC2D2A	OMIM:612285
HP:0000707	Abnormality of the nervous system	7050	TGIF1	OMIM:142946
HP:0000707	Abnormality of the nervous system	7050	TGIF1	ORPHA:220386
HP:0000707	Abnormality of the nervous system	7050	TGIF1	ORPHA:280200
HP:0000707	Abnormality of the nervous system	7050	TGIF1	ORPHA:93926
HP:0000707	Abnormality of the nervous system	7050	TGIF1	ORPHA:93924
HP:0000707	Abnormality of the nervous system	7050	TGIF1	ORPHA:93925
HP:0000707	Abnormality of the nervous system	7098	TLR3	OMIM:613002
HP:0000707	Abnormality of the nervous system	7098	TLR3	ORPHA:1930
HP:0000707	Abnormality of the nervous system	545	ATR	OMIM:210600
HP:0000707	Abnormality of the nervous system	128637	TBC1D20	OMIM:615663
HP:0000707	Abnormality of the nervous system	128637	TBC1D20	ORPHA:2510
HP:0000707	Abnormality of the nervous system	25839	COG4	OMIM:613489
HP:0000707	Abnormality of the nervous system	2313	FLI1	ORPHA:2308
HP:0000707	Abnormality of the nervous system	2313	FLI1	ORPHA:370348
HP:0000707	Abnormality of the nervous system	10367	MICU1	OMIM:615673
HP:0000707	Abnormality of the nervous system	1213	CLTC	OMIM:617854
HP:0000707	Abnormality of the nervous system	1213	CLTC	ORPHA:442835
HP:0000707	Abnormality of the nervous system	7305	TYROBP	ORPHA:2770
HP:0000707	Abnormality of the nervous system	7305	TYROBP	OMIM:221770
HP:0000707	Abnormality of the nervous system	8936	WASF1	OMIM:618707
HP:0000707	Abnormality of the nervous system	11235	PDCD10	OMIM:603285
HP:0000707	Abnormality of the nervous system	11235	PDCD10	ORPHA:221061
HP:0000707	Abnormality of the nervous system	6697	SPR	ORPHA:70594
HP:0000707	Abnormality of the nervous system	6697	SPR	OMIM:612716
HP:0000707	Abnormality of the nervous system	28514	DLL1	OMIM:618709
HP:0000707	Abnormality of the nervous system	28514	DLL1	ORPHA:220386
HP:0000707	Abnormality of the nervous system	28514	DLL1	ORPHA:280200
HP:0000707	Abnormality of the nervous system	28514	DLL1	ORPHA:93926
HP:0000707	Abnormality of the nervous system	28514	DLL1	ORPHA:93924
HP:0000707	Abnormality of the nervous system	28514	DLL1	ORPHA:93925
HP:0000707	Abnormality of the nervous system	83605	CCM2	OMIM:603284
HP:0000707	Abnormality of the nervous system	83605	CCM2	ORPHA:221061
HP:0000707	Abnormality of the nervous system	6134	RPL10	ORPHA:435938
HP:0000707	Abnormality of the nervous system	6134	RPL10	OMIM:300998
HP:0000707	Abnormality of the nervous system	6134	RPL10	ORPHA:459070
HP:0000707	Abnormality of the nervous system	23556	PIGN	ORPHA:280633
HP:0000707	Abnormality of the nervous system	23556	PIGN	ORPHA:2059
HP:0000707	Abnormality of the nervous system	23556	PIGN	OMIM:614080
HP:0000707	Abnormality of the nervous system	2893	GRIA4	OMIM:617864
HP:0000707	Abnormality of the nervous system	3661	IRF3	OMIM:616532
HP:0000707	Abnormality of the nervous system	60482	SLC5A7	ORPHA:98914
HP:0000707	Abnormality of the nervous system	4649	MYO9A	ORPHA:98914
HP:0000707	Abnormality of the nervous system	1305	COL13A1	ORPHA:98914
HP:0000707	Abnormality of the nervous system	1103	CHAT	ORPHA:98914
HP:0000707	Abnormality of the nervous system	6576	SLC25A1	ORPHA:98914
HP:0000707	Abnormality of the nervous system	6576	SLC25A1	OMIM:615182
HP:0000707	Abnormality of the nervous system	6843	VAMP1	ORPHA:98914
HP:0000707	Abnormality of the nervous system	6843	VAMP1	ORPHA:251282
HP:0000707	Abnormality of the nervous system	375790	AGRN	ORPHA:98914
HP:0000707	Abnormality of the nervous system	127833	SYT2	ORPHA:98914
HP:0000707	Abnormality of the nervous system	6572	SLC18A3	ORPHA:98914
HP:0000707	Abnormality of the nervous system	6616	SNAP25	ORPHA:98914
HP:0000707	Abnormality of the nervous system	84628	NTNG2	OMIM:618718
HP:0000707	Abnormality of the nervous system	5456	POU3F4	ORPHA:1435
HP:0000707	Abnormality of the nervous system	139285	AMER1	OMIM:300373
HP:0000707	Abnormality of the nervous system	4094	MAF	OMIM:601088
HP:0000707	Abnormality of the nervous system	4094	MAF	ORPHA:1272
HP:0000707	Abnormality of the nervous system	10577	NPC2	OMIM:607625
HP:0000707	Abnormality of the nervous system	5873	RAB27A	OMIM:607624
HP:0000707	Abnormality of the nervous system	5873	RAB27A	ORPHA:79477
HP:0000707	Abnormality of the nervous system	51317	PHF21A	OMIM:618725
HP:0000707	Abnormality of the nervous system	51317	PHF21A	ORPHA:52022
HP:0000707	Abnormality of the nervous system	2253	FGF8	ORPHA:220386
HP:0000707	Abnormality of the nervous system	2253	FGF8	ORPHA:280200
HP:0000707	Abnormality of the nervous system	2253	FGF8	ORPHA:93926
HP:0000707	Abnormality of the nervous system	2253	FGF8	ORPHA:93924
HP:0000707	Abnormality of the nervous system	2253	FGF8	ORPHA:93925
HP:0000707	Abnormality of the nervous system	2253	FGF8	ORPHA:478
HP:0000707	Abnormality of the nervous system	8243	SMC1A	ORPHA:220386
HP:0000707	Abnormality of the nervous system	8243	SMC1A	OMIM:300590
HP:0000707	Abnormality of the nervous system	8243	SMC1A	OMIM:301044
HP:0000707	Abnormality of the nervous system	8243	SMC1A	ORPHA:199
HP:0000707	Abnormality of the nervous system	8243	SMC1A	ORPHA:3095
HP:0000707	Abnormality of the nervous system	6496	SIX3	ORPHA:220386
HP:0000707	Abnormality of the nervous system	6496	SIX3	OMIM:157170
HP:0000707	Abnormality of the nervous system	6496	SIX3	ORPHA:280200
HP:0000707	Abnormality of the nervous system	6496	SIX3	ORPHA:93926
HP:0000707	Abnormality of the nervous system	6496	SIX3	ORPHA:93924
HP:0000707	Abnormality of the nervous system	6496	SIX3	ORPHA:93925
HP:0000707	Abnormality of the nervous system	4838	NODAL	ORPHA:220386
HP:0000707	Abnormality of the nervous system	4838	NODAL	ORPHA:280200
HP:0000707	Abnormality of the nervous system	4838	NODAL	ORPHA:93926
HP:0000707	Abnormality of the nervous system	4838	NODAL	ORPHA:93924
HP:0000707	Abnormality of the nervous system	4838	NODAL	ORPHA:93925
HP:0000707	Abnormality of the nervous system	6469	SHH	ORPHA:220386
HP:0000707	Abnormality of the nervous system	6469	SHH	ORPHA:280200
HP:0000707	Abnormality of the nervous system	6469	SHH	ORPHA:93926
HP:0000707	Abnormality of the nervous system	6469	SHH	ORPHA:93924
HP:0000707	Abnormality of the nervous system	6469	SHH	ORPHA:93925
HP:0000707	Abnormality of the nervous system	7546	ZIC2	ORPHA:220386
HP:0000707	Abnormality of the nervous system	7546	ZIC2	ORPHA:280200
HP:0000707	Abnormality of the nervous system	7546	ZIC2	ORPHA:93926
HP:0000707	Abnormality of the nervous system	7546	ZIC2	ORPHA:93924
HP:0000707	Abnormality of the nervous system	7546	ZIC2	ORPHA:93925
HP:0000707	Abnormality of the nervous system	7546	ZIC2	OMIM:609637
HP:0000707	Abnormality of the nervous system	6491	STIL	ORPHA:220386
HP:0000707	Abnormality of the nervous system	6491	STIL	ORPHA:93926
HP:0000707	Abnormality of the nervous system	6491	STIL	ORPHA:93924
HP:0000707	Abnormality of the nervous system	6491	STIL	ORPHA:93925
HP:0000707	Abnormality of the nervous system	6491	STIL	OMIM:612703
HP:0000707	Abnormality of the nervous system	2619	GAS1	ORPHA:220386
HP:0000707	Abnormality of the nervous system	2619	GAS1	ORPHA:280200
HP:0000707	Abnormality of the nervous system	2619	GAS1	ORPHA:93926
HP:0000707	Abnormality of the nervous system	2619	GAS1	ORPHA:93924
HP:0000707	Abnormality of the nervous system	2619	GAS1	ORPHA:93925
HP:0000707	Abnormality of the nervous system	84976	DISP1	ORPHA:220386
HP:0000707	Abnormality of the nervous system	84976	DISP1	ORPHA:280200
HP:0000707	Abnormality of the nervous system	84976	DISP1	ORPHA:93926
HP:0000707	Abnormality of the nervous system	84976	DISP1	ORPHA:93924
HP:0000707	Abnormality of the nervous system	84976	DISP1	ORPHA:93925
HP:0000707	Abnormality of the nervous system	8928	FOXH1	ORPHA:220386
HP:0000707	Abnormality of the nervous system	8928	FOXH1	ORPHA:280200
HP:0000707	Abnormality of the nervous system	8928	FOXH1	ORPHA:93926
HP:0000707	Abnormality of the nervous system	8928	FOXH1	ORPHA:93924
HP:0000707	Abnormality of the nervous system	8928	FOXH1	ORPHA:93925
HP:0000707	Abnormality of the nervous system	6997	CRIPTO	ORPHA:220386
HP:0000707	Abnormality of the nervous system	6997	CRIPTO	ORPHA:280200
HP:0000707	Abnormality of the nervous system	6997	CRIPTO	ORPHA:93926
HP:0000707	Abnormality of the nervous system	6997	CRIPTO	ORPHA:93924
HP:0000707	Abnormality of the nervous system	6997	CRIPTO	ORPHA:93925
HP:0000707	Abnormality of the nervous system	2806	GOT2	OMIM:618721
HP:0000707	Abnormality of the nervous system	8777	MPDZ	OMIM:615219
HP:0000707	Abnormality of the nervous system	8481	OFD1	ORPHA:2750
HP:0000707	Abnormality of the nervous system	8481	OFD1	ORPHA:2754
HP:0000707	Abnormality of the nervous system	8481	OFD1	OMIM:311200
HP:0000707	Abnormality of the nervous system	8481	OFD1	ORPHA:475
HP:0000707	Abnormality of the nervous system	10210	TOPORS	ORPHA:2754
HP:0000707	Abnormality of the nervous system	9851	KIAA0753	ORPHA:2754
HP:0000707	Abnormality of the nervous system	9851	KIAA0753	ORPHA:475
HP:0000707	Abnormality of the nervous system	26123	TCTN3	ORPHA:2754
HP:0000707	Abnormality of the nervous system	26123	TCTN3	ORPHA:475
HP:0000707	Abnormality of the nervous system	5147	PDE6D	ORPHA:2754
HP:0000707	Abnormality of the nervous system	5147	PDE6D	ORPHA:475
HP:0000707	Abnormality of the nervous system	65250	CPLANE1	ORPHA:2754
HP:0000707	Abnormality of the nervous system	65250	CPLANE1	ORPHA:475
HP:0000707	Abnormality of the nervous system	374654	KIF7	ORPHA:2754
HP:0000707	Abnormality of the nervous system	374654	KIF7	OMIM:200990
HP:0000707	Abnormality of the nervous system	11133	KPTN	ORPHA:397612
HP:0000707	Abnormality of the nervous system	51075	TMX2	OMIM:618730
HP:0000707	Abnormality of the nervous system	57647	DHX37	OMIM:618731
HP:0000707	Abnormality of the nervous system	64221	ROBO3	ORPHA:2744
HP:0000707	Abnormality of the nervous system	1630	DCC	ORPHA:2744
HP:0000707	Abnormality of the nervous system	1630	DCC	OMIM:617542
HP:0000707	Abnormality of the nervous system	1630	DCC	ORPHA:478
HP:0000707	Abnormality of the nervous system	80169	CTC1	OMIM:612199
HP:0000707	Abnormality of the nervous system	51763	INPP5K	OMIM:617404
HP:0000707	Abnormality of the nervous system	2212	FCGR2A	OMIM:152700
HP:0000707	Abnormality of the nervous system	2213	FCGR2B	OMIM:152700
HP:0000707	Abnormality of the nervous system	2213	FCGR2B	ORPHA:536
HP:0000707	Abnormality of the nervous system	26191	PTPN22	OMIM:152700
HP:0000707	Abnormality of the nervous system	26191	PTPN22	ORPHA:536
HP:0000707	Abnormality of the nervous system	26191	PTPN22	ORPHA:900
HP:0000707	Abnormality of the nervous system	1493	CTLA4	OMIM:152700
HP:0000707	Abnormality of the nervous system	1493	CTLA4	ORPHA:536
HP:0000707	Abnormality of the nervous system	1493	CTLA4	ORPHA:900
HP:0000707	Abnormality of the nervous system	1773	DNASE1	OMIM:152700
HP:0000707	Abnormality of the nervous system	1773	DNASE1	ORPHA:536
HP:0000707	Abnormality of the nervous system	523	ATP6V1A	OMIM:617403
HP:0000707	Abnormality of the nervous system	523	ATP6V1A	ORPHA:442835
HP:0000707	Abnormality of the nervous system	523	ATP6V1A	ORPHA:357074
HP:0000707	Abnormality of the nervous system	7337	UBE3A	ORPHA:411511
HP:0000707	Abnormality of the nervous system	7337	UBE3A	ORPHA:411515
HP:0000707	Abnormality of the nervous system	7337	UBE3A	OMIM:105830
HP:0000707	Abnormality of the nervous system	7337	UBE3A	ORPHA:238446
HP:0000707	Abnormality of the nervous system	7337	UBE3A	ORPHA:98794
HP:0000707	Abnormality of the nervous system	7337	UBE3A	ORPHA:98795
HP:0000707	Abnormality of the nervous system	498	ATP5F1A	OMIM:615228
HP:0000707	Abnormality of the nervous system	498	ATP5F1A	OMIM:616045
HP:0000707	Abnormality of the nervous system	498	ATP5F1A	ORPHA:254913
HP:0000707	Abnormality of the nervous system	57194	ATP10A	ORPHA:411515
HP:0000707	Abnormality of the nervous system	56978	PRDM8	ORPHA:324290
HP:0000707	Abnormality of the nervous system	56978	PRDM8	OMIM:616640
HP:0000707	Abnormality of the nervous system	4982	TNFRSF11B	ORPHA:1416
HP:0000707	Abnormality of the nervous system	56172	ANKH	ORPHA:1416
HP:0000707	Abnormality of the nervous system	3759	KCNJ2	ORPHA:37553
HP:0000707	Abnormality of the nervous system	85465	SELENOI	ORPHA:506353
HP:0000707	Abnormality of the nervous system	2815	GP9	ORPHA:274
HP:0000707	Abnormality of the nervous system	10617	STAMBP	OMIM:614261
HP:0000707	Abnormality of the nervous system	8367	H4C5	OMIM:619950
HP:0000707	Abnormality of the nervous system	229	ALDOB	OMIM:229600
HP:0000707	Abnormality of the nervous system	229	ALDOB	ORPHA:469
HP:0000707	Abnormality of the nervous system	3703	STT3A	OMIM:615596
HP:0000707	Abnormality of the nervous system	3703	STT3A	ORPHA:370921
HP:0000707	Abnormality of the nervous system	343450	KCNT2	OMIM:617771
HP:0000707	Abnormality of the nervous system	55627	SMPD4	OMIM:618622
HP:0000707	Abnormality of the nervous system	23417	MLYCD	OMIM:248360
HP:0000707	Abnormality of the nervous system	81857	MED25	OMIM:616449
HP:0000707	Abnormality of the nervous system	81857	MED25	ORPHA:464738
HP:0000707	Abnormality of the nervous system	5361	PLXNA1	OMIM:619955
HP:0000707	Abnormality of the nervous system	4693	NDP	OMIM:310600
HP:0000707	Abnormality of the nervous system	4693	NDP	ORPHA:649
HP:0000707	Abnormality of the nervous system	4047	LSS	ORPHA:2850
HP:0000707	Abnormality of the nervous system	4047	LSS	OMIM:618840
HP:0000707	Abnormality of the nervous system	197	AHSG	ORPHA:2850
HP:0000707	Abnormality of the nervous system	3694	ITGB6	ORPHA:2850
HP:0000707	Abnormality of the nervous system	22947	DUX4L1	ORPHA:269
HP:0000707	Abnormality of the nervous system	1789	DNMT3B	ORPHA:269
HP:0000707	Abnormality of the nervous system	23347	SMCHD1	ORPHA:269
HP:0000707	Abnormality of the nervous system	100288687	DUX4	ORPHA:269
HP:0000707	Abnormality of the nervous system	3190	HNRNPK	ORPHA:453504
HP:0000707	Abnormality of the nervous system	3190	HNRNPK	ORPHA:352665
HP:0000707	Abnormality of the nervous system	57165	GJC2	OMIM:608804
HP:0000707	Abnormality of the nervous system	57165	GJC2	ORPHA:320401
HP:0000707	Abnormality of the nervous system	57165	GJC2	OMIM:613206
HP:0000707	Abnormality of the nervous system	3074	HEXB	ORPHA:309162
HP:0000707	Abnormality of the nervous system	3074	HEXB	ORPHA:309155
HP:0000707	Abnormality of the nervous system	4522	MTHFD1	OMIM:617780
HP:0000707	Abnormality of the nervous system	6855	SYP	OMIM:300802
HP:0000707	Abnormality of the nervous system	790	CAD	OMIM:616457
HP:0000707	Abnormality of the nervous system	55689	YEATS2	OMIM:615127
HP:0000707	Abnormality of the nervous system	2670	GFAP	OMIM:203450
HP:0000707	Abnormality of the nervous system	2670	GFAP	ORPHA:363717
HP:0000707	Abnormality of the nervous system	80155	NAA15	OMIM:617787
HP:0000707	Abnormality of the nervous system	10730	YME1L1	OMIM:617302
HP:0000707	Abnormality of the nervous system	54681	P4HTM	ORPHA:436141
HP:0000707	Abnormality of the nervous system	54681	P4HTM	OMIM:618493
HP:0000707	Abnormality of the nervous system	129563	DIS3L2	ORPHA:2849
HP:0000707	Abnormality of the nervous system	128486	FITM2	OMIM:618635
HP:0000707	Abnormality of the nervous system	28960	DCPS	OMIM:616459
HP:0000707	Abnormality of the nervous system	3908	LAMA2	ORPHA:258
HP:0000707	Abnormality of the nervous system	3908	LAMA2	OMIM:618138
HP:0000707	Abnormality of the nervous system	3908	LAMA2	OMIM:607855
HP:0000707	Abnormality of the nervous system	57231	SNX14	ORPHA:397709
HP:0000707	Abnormality of the nervous system	57231	SNX14	OMIM:616354
HP:0000707	Abnormality of the nervous system	23474	ETHE1	ORPHA:51188
HP:0000707	Abnormality of the nervous system	23474	ETHE1	OMIM:602473
HP:0000707	Abnormality of the nervous system	51684	SUFU	ORPHA:280200
HP:0000707	Abnormality of the nervous system	51684	SUFU	ORPHA:2495
HP:0000707	Abnormality of the nervous system	51684	SUFU	ORPHA:475
HP:0000707	Abnormality of the nervous system	10559	SLC35A1	OMIM:603585
HP:0000707	Abnormality of the nervous system	535	ATP6V0A1	OMIM:619971
HP:0000707	Abnormality of the nervous system	535	ATP6V0A1	OMIM:619970
HP:0000707	Abnormality of the nervous system	55870	ASH1L	OMIM:617796
HP:0000707	Abnormality of the nervous system	91869	RFT1	ORPHA:244310
HP:0000707	Abnormality of the nervous system	91869	RFT1	OMIM:612015
HP:0000707	Abnormality of the nervous system	816	CAMK2B	OMIM:617799
HP:0000707	Abnormality of the nervous system	5155	PDGFB	ORPHA:1980
HP:0000707	Abnormality of the nervous system	5155	PDGFB	OMIM:213600
HP:0000707	Abnormality of the nervous system	5155	PDGFB	ORPHA:2495
HP:0000707	Abnormality of the nervous system	9213	XPR1	ORPHA:1980
HP:0000707	Abnormality of the nervous system	9213	XPR1	OMIM:616413
HP:0000707	Abnormality of the nervous system	5159	PDGFRB	ORPHA:1980
HP:0000707	Abnormality of the nervous system	5159	PDGFRB	OMIM:213600
HP:0000707	Abnormality of the nervous system	57462	MYORG	ORPHA:1980
HP:0000707	Abnormality of the nervous system	6575	SLC20A2	ORPHA:1980
HP:0000707	Abnormality of the nervous system	6575	SLC20A2	OMIM:213600
HP:0000707	Abnormality of the nervous system	58494	JAM2	ORPHA:1980
HP:0000707	Abnormality of the nervous system	58494	JAM2	OMIM:618824
HP:0000707	Abnormality of the nervous system	2626	GATA4	ORPHA:251071
HP:0000707	Abnormality of the nervous system	7469	NELFA	ORPHA:280
HP:0000707	Abnormality of the nervous system	22884	WDR37	OMIM:618652
HP:0000707	Abnormality of the nervous system	57178	ZMIZ1	OMIM:618659
HP:0000707	Abnormality of the nervous system	80208	SPG11	ORPHA:2822
HP:0000707	Abnormality of the nervous system	388962	BOLA3	OMIM:614299
HP:0000707	Abnormality of the nervous system	2783	GNB2	OMIM:619503
HP:0000707	Abnormality of the nervous system	26057	ANKRD17	OMIM:619504
HP:0000707	Abnormality of the nervous system	3737	KCNA2	ORPHA:442835
HP:0000707	Abnormality of the nervous system	3737	KCNA2	OMIM:616366
HP:0000707	Abnormality of the nervous system	1759	DNM1	ORPHA:442835
HP:0000707	Abnormality of the nervous system	1759	DNM1	OMIM:620352
HP:0000707	Abnormality of the nervous system	8120	AP3B2	ORPHA:442835
HP:0000707	Abnormality of the nervous system	8120	AP3B2	OMIM:617276
HP:0000707	Abnormality of the nervous system	10991	SLC38A3	ORPHA:442835
HP:0000707	Abnormality of the nervous system	51343	FZR1	ORPHA:442835
HP:0000707	Abnormality of the nervous system	3747	KCNC2	ORPHA:442835
HP:0000707	Abnormality of the nervous system	1917	EEF1A2	ORPHA:442835
HP:0000707	Abnormality of the nervous system	1917	EEF1A2	OMIM:616409
HP:0000707	Abnormality of the nervous system	23219	FBXO28	ORPHA:442835
HP:0000707	Abnormality of the nervous system	23219	FBXO28	OMIM:619777
HP:0000707	Abnormality of the nervous system	2558	GABRA5	ORPHA:442835
HP:0000707	Abnormality of the nervous system	2558	GABRA5	OMIM:618559
HP:0000707	Abnormality of the nervous system	2906	GRIN2D	ORPHA:442835
HP:0000707	Abnormality of the nervous system	2906	GRIN2D	OMIM:617162
HP:0000707	Abnormality of the nervous system	51741	WWOX	ORPHA:442835
HP:0000707	Abnormality of the nervous system	51741	WWOX	OMIM:616211
HP:0000707	Abnormality of the nervous system	23334	SZT2	ORPHA:442835
HP:0000707	Abnormality of the nervous system	348980	HCN1	ORPHA:442835
HP:0000707	Abnormality of the nervous system	348980	HCN1	OMIM:618482
HP:0000707	Abnormality of the nervous system	25977	NECAP1	ORPHA:442835
HP:0000707	Abnormality of the nervous system	23241	PACS2	ORPHA:442835
HP:0000707	Abnormality of the nervous system	23241	PACS2	OMIM:618067
HP:0000707	Abnormality of the nervous system	16	AARS1	ORPHA:442835
HP:0000707	Abnormality of the nervous system	9568	GABBR2	ORPHA:442835
HP:0000707	Abnormality of the nervous system	9568	GABBR2	ORPHA:3095
HP:0000707	Abnormality of the nervous system	9568	GABBR2	OMIM:617903
HP:0000707	Abnormality of the nervous system	2555	GABRA2	ORPHA:442835
HP:0000707	Abnormality of the nervous system	2555	GABRA2	OMIM:618557
HP:0000707	Abnormality of the nervous system	55152	DALRD3	ORPHA:442835
HP:0000707	Abnormality of the nervous system	26999	CYFIP2	ORPHA:442835
HP:0000707	Abnormality of the nervous system	26999	CYFIP2	OMIM:618008
HP:0000707	Abnormality of the nervous system	25973	PARS2	ORPHA:442835
HP:0000707	Abnormality of the nervous system	25973	PARS2	OMIM:618437
HP:0000707	Abnormality of the nervous system	23097	CDK19	ORPHA:442835
HP:0000707	Abnormality of the nervous system	23097	CDK19	OMIM:618916
HP:0000707	Abnormality of the nervous system	2257	FGF12	ORPHA:442835
HP:0000707	Abnormality of the nervous system	5530	PPP3CA	ORPHA:442835
HP:0000707	Abnormality of the nervous system	5530	PPP3CA	OMIM:617711
HP:0000707	Abnormality of the nervous system	478	ATP1A3	ORPHA:442835
HP:0000707	Abnormality of the nervous system	478	ATP1A3	OMIM:601338
HP:0000707	Abnormality of the nervous system	478	ATP1A3	ORPHA:1171
HP:0000707	Abnormality of the nervous system	478	ATP1A3	ORPHA:71517
HP:0000707	Abnormality of the nervous system	478	ATP1A3	ORPHA:2131
HP:0000707	Abnormality of the nervous system	478	ATP1A3	OMIM:614820
HP:0000707	Abnormality of the nervous system	22906	TRAK1	ORPHA:442835
HP:0000707	Abnormality of the nervous system	2566	GABRG2	ORPHA:442835
HP:0000707	Abnormality of the nervous system	7532	YWHAG	ORPHA:442835
HP:0000707	Abnormality of the nervous system	7532	YWHAG	OMIM:617665
HP:0000707	Abnormality of the nervous system	79876	UBA5	ORPHA:442835
HP:0000707	Abnormality of the nervous system	79876	UBA5	OMIM:617132
HP:0000707	Abnormality of the nervous system	6328	SCN3A	ORPHA:442835
HP:0000707	Abnormality of the nervous system	6328	SCN3A	OMIM:617938
HP:0000707	Abnormality of the nervous system	781	CACNA2D1	ORPHA:442835
HP:0000707	Abnormality of the nervous system	10659	CELF2	ORPHA:442835
HP:0000707	Abnormality of the nervous system	10659	CELF2	OMIM:619561
HP:0000707	Abnormality of the nervous system	774	CACNA1B	ORPHA:442835
HP:0000707	Abnormality of the nervous system	774	CACNA1B	OMIM:618497
HP:0000707	Abnormality of the nervous system	51412	ACTL6B	ORPHA:442835
HP:0000707	Abnormality of the nervous system	51412	ACTL6B	OMIM:618468
HP:0000707	Abnormality of the nervous system	6506	SLC1A2	ORPHA:442835
HP:0000707	Abnormality of the nervous system	477	ATP1A2	ORPHA:442835
HP:0000707	Abnormality of the nervous system	477	ATP1A2	ORPHA:2131
HP:0000707	Abnormality of the nervous system	3745	KCNB1	ORPHA:442835
HP:0000707	Abnormality of the nervous system	284111	SLC13A5	ORPHA:442835
HP:0000707	Abnormality of the nervous system	284111	SLC13A5	ORPHA:1946
HP:0000707	Abnormality of the nervous system	22866	CNKSR2	ORPHA:442835
HP:0000707	Abnormality of the nervous system	22866	CNKSR2	OMIM:301008
HP:0000707	Abnormality of the nervous system	773	CACNA1A	ORPHA:442835
HP:0000707	Abnormality of the nervous system	773	CACNA1A	OMIM:141500
HP:0000707	Abnormality of the nervous system	773	CACNA1A	ORPHA:2131
HP:0000707	Abnormality of the nervous system	6323	SCN1A	ORPHA:442835
HP:0000707	Abnormality of the nervous system	6323	SCN1A	OMIM:609634
HP:0000707	Abnormality of the nervous system	8241	RBM10	OMIM:311900
HP:0000707	Abnormality of the nervous system	8241	RBM10	ORPHA:2886
HP:0000707	Abnormality of the nervous system	57167	SALL4	ORPHA:233
HP:0000707	Abnormality of the nervous system	9935	MAFB	ORPHA:233
HP:0000707	Abnormality of the nervous system	1123	CHN1	ORPHA:233
HP:0000707	Abnormality of the nervous system	3981	LIG4	ORPHA:235
HP:0000707	Abnormality of the nervous system	54888	NSUN2	ORPHA:235
HP:0000707	Abnormality of the nervous system	54888	NSUN2	OMIM:611091
HP:0000707	Abnormality of the nervous system	51594	NBAS	OMIM:616483
HP:0000707	Abnormality of the nervous system	253738	EBF3	OMIM:617330
HP:0000707	Abnormality of the nervous system	253738	EBF3	ORPHA:96148
HP:0000707	Abnormality of the nervous system	29081	METTL5	OMIM:618665
HP:0000707	Abnormality of the nervous system	84879	MFSD2A	OMIM:616486
HP:0000707	Abnormality of the nervous system	7862	BRPF1	OMIM:617333
HP:0000707	Abnormality of the nervous system	1660	DHX9	OMIM:620988
HP:0000707	Abnormality of the nervous system	2550	GABBR1	OMIM:620502
HP:0000707	Abnormality of the nervous system	131405	TRIM71	OMIM:618667
HP:0000707	Abnormality of the nervous system	4191	MDH2	OMIM:617339
HP:0000707	Abnormality of the nervous system	286	ANK1	ORPHA:251066
HP:0000707	Abnormality of the nervous system	166785	MMAA	OMIM:251100
HP:0000707	Abnormality of the nervous system	554	AVPR2	ORPHA:223
HP:0000707	Abnormality of the nervous system	554	AVPR2	OMIM:304800
HP:0000707	Abnormality of the nervous system	359	AQP2	ORPHA:223
HP:0000707	Abnormality of the nervous system	359	AQP2	OMIM:125800
HP:0000707	Abnormality of the nervous system	26137	ZBTB20	OMIM:259050
HP:0000707	Abnormality of the nervous system	26137	ZBTB20	ORPHA:3042
HP:0000707	Abnormality of the nervous system	7750	ZMYM2	OMIM:619522
HP:0000707	Abnormality of the nervous system	22	ABCB7	ORPHA:2802
HP:0000707	Abnormality of the nervous system	22	ABCB7	OMIM:301310
HP:0000707	Abnormality of the nervous system	57466	SCAF4	OMIM:620511
HP:0000707	Abnormality of the nervous system	9562	MINPP1	OMIM:619527
HP:0000707	Abnormality of the nervous system	9562	MINPP1	ORPHA:284339
HP:0000707	Abnormality of the nervous system	51163	DBR1	OMIM:620510
HP:0000707	Abnormality of the nervous system	23314	SATB2	ORPHA:576283
HP:0000707	Abnormality of the nervous system	23314	SATB2	ORPHA:251028
HP:0000707	Abnormality of the nervous system	23314	SATB2	OMIM:612313
HP:0000707	Abnormality of the nervous system	6324	SCN1B	OMIM:617350
HP:0000707	Abnormality of the nervous system	6324	SCN1B	ORPHA:1934
HP:0000707	Abnormality of the nervous system	79989	IFT56	OMIM:619534
HP:0000707	Abnormality of the nervous system	9922	IQSEC1	OMIM:618687
HP:0000707	Abnormality of the nervous system	284098	PIGW	OMIM:616025
HP:0000707	Abnormality of the nervous system	284098	PIGW	ORPHA:247262
HP:0000707	Abnormality of the nervous system	2157	F8	ORPHA:169805
HP:0000707	Abnormality of the nervous system	4851	NOTCH1	OMIM:616028
HP:0000707	Abnormality of the nervous system	4851	NOTCH1	ORPHA:974
HP:0000707	Abnormality of the nervous system	3785	KCNQ2	ORPHA:439218
HP:0000707	Abnormality of the nervous system	3785	KCNQ2	OMIM:613720
HP:0000707	Abnormality of the nervous system	3930	LBR	OMIM:169400
HP:0000707	Abnormality of the nervous system	79641	ROGDI	ORPHA:1946
HP:0000707	Abnormality of the nervous system	79641	ROGDI	OMIM:226750
HP:0000707	Abnormality of the nervous system	6595	SMARCA2	OMIM:601358
HP:0000707	Abnormality of the nervous system	6595	SMARCA2	ORPHA:3051
HP:0000707	Abnormality of the nervous system	6595	SMARCA2	OMIM:619293
HP:0000707	Abnormality of the nervous system	6812	STXBP1	ORPHA:599373
HP:0000707	Abnormality of the nervous system	6812	STXBP1	ORPHA:495818
HP:0000707	Abnormality of the nervous system	8621	CDK13	OMIM:617360
HP:0000707	Abnormality of the nervous system	133686	NADK2	OMIM:616034
HP:0000707	Abnormality of the nervous system	133686	NADK2	ORPHA:431361
HP:0000707	Abnormality of the nervous system	164	AP1G1	OMIM:619548
HP:0000707	Abnormality of the nervous system	164	AP1G1	OMIM:619467
HP:0000707	Abnormality of the nervous system	8905	AP1S2	OMIM:304340
HP:0000707	Abnormality of the nervous system	3736	KCNA1	ORPHA:1934
HP:0000707	Abnormality of the nervous system	3736	KCNA1	ORPHA:972
HP:0000707	Abnormality of the nervous system	3736	KCNA1	ORPHA:98809
HP:0000707	Abnormality of the nervous system	9091	PIGQ	ORPHA:1934
HP:0000707	Abnormality of the nervous system	140679	SLC32A1	ORPHA:1934
HP:0000707	Abnormality of the nervous system	140679	SLC32A1	OMIM:620755
HP:0000707	Abnormality of the nervous system	2775	GNAO1	ORPHA:1934
HP:0000707	Abnormality of the nervous system	81603	TRIM8	ORPHA:1934
HP:0000707	Abnormality of the nervous system	81603	TRIM8	OMIM:619428
HP:0000707	Abnormality of the nervous system	79751	SLC25A22	ORPHA:1934
HP:0000707	Abnormality of the nervous system	79751	SLC25A22	OMIM:609304
HP:0000707	Abnormality of the nervous system	23312	DMXL2	ORPHA:1934
HP:0000707	Abnormality of the nervous system	2917	GRM7	ORPHA:1934
HP:0000707	Abnormality of the nervous system	2917	GRM7	OMIM:618922
HP:0000707	Abnormality of the nervous system	51227	PIGP	ORPHA:1934
HP:0000707	Abnormality of the nervous system	51227	PIGP	OMIM:617599
HP:0000707	Abnormality of the nervous system	4761	NEUROD2	ORPHA:1934
HP:0000707	Abnormality of the nervous system	8803	SUCLA2	ORPHA:1933
HP:0000707	Abnormality of the nervous system	8803	SUCLA2	OMIM:612073
HP:0000707	Abnormality of the nervous system	10456	HAX1	OMIM:610738
HP:0000707	Abnormality of the nervous system	7187	TRAF3	ORPHA:1930
HP:0000707	Abnormality of the nervous system	81622	UNC93B1	ORPHA:1930
HP:0000707	Abnormality of the nervous system	148022	TICAM1	ORPHA:1930
HP:0000707	Abnormality of the nervous system	29110	TBK1	ORPHA:1930
HP:0000707	Abnormality of the nervous system	29110	TBK1	OMIM:620880
HP:0000707	Abnormality of the nervous system	29110	TBK1	OMIM:617900
HP:0000707	Abnormality of the nervous system	3912	LAMB1	OMIM:615191
HP:0000707	Abnormality of the nervous system	3912	LAMB1	ORPHA:352682
HP:0000707	Abnormality of the nervous system	55217	TMLHE	OMIM:300872
HP:0000707	Abnormality of the nervous system	4728	NDUFS8	OMIM:618222
HP:0000707	Abnormality of the nervous system	10466	COG5	ORPHA:263487
HP:0000707	Abnormality of the nervous system	51422	PRKAG2	OMIM:261740
HP:0000707	Abnormality of the nervous system	374291	NDUFS7	OMIM:618224
HP:0000707	Abnormality of the nervous system	4723	NDUFV1	OMIM:618225
HP:0000707	Abnormality of the nervous system	30000	TNPO2	OMIM:619556
HP:0000707	Abnormality of the nervous system	79705	LRRK1	OMIM:615198
HP:0000707	Abnormality of the nervous system	4719	NDUFS1	OMIM:618226
HP:0000707	Abnormality of the nervous system	83548	COG3	OMIM:620546
HP:0000707	Abnormality of the nervous system	81570	CLPB	ORPHA:445038
HP:0000707	Abnormality of the nervous system	81570	CLPB	OMIM:619813
HP:0000707	Abnormality of the nervous system	81570	CLPB	OMIM:616271
HP:0000707	Abnormality of the nervous system	6507	SLC1A3	ORPHA:209967
HP:0000707	Abnormality of the nervous system	6507	SLC1A3	ORPHA:2131
HP:0000707	Abnormality of the nervous system	6507	SLC1A3	OMIM:612656
HP:0000707	Abnormality of the nervous system	2627	GATA6	OMIM:600001
HP:0000707	Abnormality of the nervous system	2627	GATA6	ORPHA:2255
HP:0000707	Abnormality of the nervous system	1908	EDN3	ORPHA:661
HP:0000707	Abnormality of the nervous system	2668	GDNF	ORPHA:661
HP:0000707	Abnormality of the nervous system	627	BDNF	ORPHA:661
HP:0000707	Abnormality of the nervous system	10660	LBX1	ORPHA:661
HP:0000707	Abnormality of the nervous system	283446	MYO1H	ORPHA:661
HP:0000707	Abnormality of the nervous system	283446	MYO1H	OMIM:619482
HP:0000707	Abnormality of the nervous system	5009	OTC	ORPHA:664
HP:0000707	Abnormality of the nervous system	5009	OTC	OMIM:311250
HP:0000707	Abnormality of the nervous system	55869	HDAC8	OMIM:300882
HP:0000707	Abnormality of the nervous system	55869	HDAC8	ORPHA:3459
HP:0000707	Abnormality of the nervous system	55869	HDAC8	ORPHA:199
HP:0000707	Abnormality of the nervous system	2581	GALC	ORPHA:206443
HP:0000707	Abnormality of the nervous system	2581	GALC	ORPHA:206436
HP:0000707	Abnormality of the nervous system	2581	GALC	OMIM:245200
HP:0000707	Abnormality of the nervous system	91942	NDUFAF2	OMIM:618233
HP:0000707	Abnormality of the nervous system	650	BMP2	ORPHA:261295
HP:0000707	Abnormality of the nervous system	25814	ATXN10	OMIM:603516
HP:0000707	Abnormality of the nervous system	79868	ALG13	OMIM:300884
HP:0000707	Abnormality of the nervous system	126328	NDUFA11	OMIM:618236
HP:0000707	Abnormality of the nervous system	9342	SNAP29	ORPHA:66631
HP:0000707	Abnormality of the nervous system	4726	NDUFS6	OMIM:618232
HP:0000707	Abnormality of the nervous system	443	ASPA	ORPHA:314918
HP:0000707	Abnormality of the nervous system	443	ASPA	ORPHA:314911
HP:0000707	Abnormality of the nervous system	79133	NDUFAF5	OMIM:618238
HP:0000707	Abnormality of the nervous system	2033	EP300	ORPHA:353284
HP:0000707	Abnormality of the nervous system	2033	EP300	OMIM:180849
HP:0000707	Abnormality of the nervous system	137682	NDUFAF6	OMIM:618239
HP:0000707	Abnormality of the nervous system	162514	TRPV3	ORPHA:659
HP:0000707	Abnormality of the nervous system	64065	PERP	ORPHA:659
HP:0000707	Abnormality of the nervous system	26128	KIFBP	ORPHA:66629
HP:0000707	Abnormality of the nervous system	7846	TUBA1A	OMIM:611603
HP:0000707	Abnormality of the nervous system	2710	GK	OMIM:307030
HP:0000707	Abnormality of the nervous system	9179	AP4M1	OMIM:612936
HP:0000707	Abnormality of the nervous system	9179	AP4M1	ORPHA:280763
HP:0000707	Abnormality of the nervous system	9126	SMC3	OMIM:610759
HP:0000707	Abnormality of the nervous system	9126	SMC3	ORPHA:199
HP:0000707	Abnormality of the nervous system	79944	L2HGDH	OMIM:236792
HP:0000707	Abnormality of the nervous system	79944	L2HGDH	ORPHA:79314
HP:0000707	Abnormality of the nervous system	79068	FTO	OMIM:612938
HP:0000707	Abnormality of the nervous system	4976	OPA1	ORPHA:98673
HP:0000707	Abnormality of the nervous system	1491	CTH	ORPHA:212
HP:0000707	Abnormality of the nervous system	1741	DLG3	OMIM:300850
HP:0000707	Abnormality of the nervous system	3192	HNRNPU	OMIM:617391
HP:0000707	Abnormality of the nervous system	57551	TAOK1	OMIM:619575
HP:0000707	Abnormality of the nervous system	112939	NACC1	OMIM:617393
HP:0000707	Abnormality of the nervous system	112939	NACC1	ORPHA:500545
HP:0000707	Abnormality of the nervous system	55572	FOXRED1	OMIM:618241
HP:0000707	Abnormality of the nervous system	11274	USP18	OMIM:617397
HP:0000707	Abnormality of the nervous system	7169	TPM2	OMIM:609285
HP:0000707	Abnormality of the nervous system	29920	PYCR2	ORPHA:481152
HP:0000707	Abnormality of the nervous system	29920	PYCR2	OMIM:616420
HP:0000707	Abnormality of the nervous system	22845	DOLK	OMIM:610768
HP:0000707	Abnormality of the nervous system	22845	DOLK	ORPHA:91131
HP:0000707	Abnormality of the nervous system	4864	NPC1	OMIM:257220
HP:0000707	Abnormality of the nervous system	8604	SLC25A12	OMIM:612949
HP:0000707	Abnormality of the nervous system	6898	TAT	ORPHA:28378
HP:0000707	Abnormality of the nervous system	10483	SEC23B	ORPHA:201
HP:0000707	Abnormality of the nervous system	6391	SDHC	ORPHA:201
HP:0000707	Abnormality of the nervous system	205717	USF3	ORPHA:201
HP:0000707	Abnormality of the nervous system	100144748	KLLN	ORPHA:201
HP:0000707	Abnormality of the nervous system	3643	INSR	ORPHA:263458
HP:0000707	Abnormality of the nervous system	7319	UBE2A	OMIM:300860
HP:0000707	Abnormality of the nervous system	7319	UBE2A	ORPHA:163956
HP:0000707	Abnormality of the nervous system	3172	HNF4A	ORPHA:263455
HP:0000707	Abnormality of the nervous system	10524	KAT5	OMIM:619103
HP:0000707	Abnormality of the nervous system	51300	TIMMDC1	OMIM:618251
HP:0000707	Abnormality of the nervous system	4714	NDUFB8	OMIM:618252
HP:0000707	Abnormality of the nervous system	4700	NDUFA6	OMIM:618253
HP:0000707	Abnormality of the nervous system	8635	RNASET2	OMIM:612951
HP:0000707	Abnormality of the nervous system	9244	CRLF1	OMIM:272430
HP:0000707	Abnormality of the nervous system	9244	CRLF1	ORPHA:1545
HP:0000707	Abnormality of the nervous system	1021	CDK6	OMIM:616080
HP:0000707	Abnormality of the nervous system	50814	NSDHL	OMIM:300831
HP:0000707	Abnormality of the nervous system	50814	NSDHL	ORPHA:251383
HP:0000707	Abnormality of the nervous system	3975	LHX1	ORPHA:261265
HP:0000707	Abnormality of the nervous system	6928	HNF1B	ORPHA:261265
HP:0000707	Abnormality of the nervous system	57003	CCDC47	OMIM:618268
HP:0000707	Abnormality of the nervous system	51095	TRNT1	OMIM:616084
HP:0000707	Abnormality of the nervous system	10847	SRCAP	OMIM:619595
HP:0000707	Abnormality of the nervous system	10847	SRCAP	ORPHA:2044
HP:0000707	Abnormality of the nervous system	51091	SEPSECS	OMIM:613811
HP:0000707	Abnormality of the nervous system	51091	SEPSECS	ORPHA:2524
HP:0000707	Abnormality of the nervous system	6660	SOX5	ORPHA:626
HP:0000707	Abnormality of the nervous system	6660	SOX5	ORPHA:313892
HP:0000707	Abnormality of the nervous system	238	ALK	ORPHA:626
HP:0000707	Abnormality of the nervous system	4893	NRAS	ORPHA:626
HP:0000707	Abnormality of the nervous system	4893	NRAS	OMIM:163200
HP:0000707	Abnormality of the nervous system	4893	NRAS	ORPHA:2612
HP:0000707	Abnormality of the nervous system	4893	NRAS	OMIM:249400
HP:0000707	Abnormality of the nervous system	5894	RAF1	ORPHA:626
HP:0000707	Abnormality of the nervous system	54982	CLN6	OMIM:601780
HP:0000707	Abnormality of the nervous system	2132	EXT2	ORPHA:52022
HP:0000707	Abnormality of the nervous system	2132	EXT2	ORPHA:466926
HP:0000707	Abnormality of the nervous system	2132	EXT2	OMIM:616682
HP:0000707	Abnormality of the nervous system	60529	ALX4	ORPHA:52022
HP:0000707	Abnormality of the nervous system	60529	ALX4	ORPHA:60015
HP:0000707	Abnormality of the nervous system	8915	BCL10	OMIM:616098
HP:0000707	Abnormality of the nervous system	7504	XK	OMIM:300842
HP:0000707	Abnormality of the nervous system	90522	YIF1B	OMIM:619125
HP:0000707	Abnormality of the nervous system	374354	NHLRC2	OMIM:618278
HP:0000707	Abnormality of the nervous system	22983	MAST1	OMIM:618273
HP:0000707	Abnormality of the nervous system	118924	FRA10AC1	OMIM:620113
HP:0000707	Abnormality of the nervous system	8911	CACNA1I	OMIM:620114
HP:0000707	Abnormality of the nervous system	4488	MSX2	OMIM:168500
HP:0000707	Abnormality of the nervous system	4488	MSX2	ORPHA:60015
HP:0000707	Abnormality of the nervous system	4488	MSX2	OMIM:604757
HP:0000707	Abnormality of the nervous system	9895	TECPR2	ORPHA:320385
HP:0000707	Abnormality of the nervous system	4781	NFIB	OMIM:618286
HP:0000707	Abnormality of the nervous system	55835	CPAP	OMIM:608393
HP:0000707	Abnormality of the nervous system	4668	NAGA	OMIM:609241
HP:0000707	Abnormality of the nervous system	4668	NAGA	ORPHA:79281
HP:0000707	Abnormality of the nervous system	4668	NAGA	ORPHA:79279
HP:0000707	Abnormality of the nervous system	9487	PIGL	OMIM:280000
HP:0000707	Abnormality of the nervous system	9487	PIGL	ORPHA:247262
HP:0000707	Abnormality of the nervous system	9487	PIGL	ORPHA:3474
HP:0000707	Abnormality of the nervous system	131118	DNAJC19	ORPHA:66634
HP:0000707	Abnormality of the nervous system	131118	DNAJC19	OMIM:610198
HP:0000707	Abnormality of the nervous system	3593	IL12B	ORPHA:3287
HP:0000707	Abnormality of the nervous system	3106	HLA-B	ORPHA:3287
HP:0000707	Abnormality of the nervous system	3106	HLA-B	ORPHA:117
HP:0000707	Abnormality of the nervous system	6945	MLX	ORPHA:3287
HP:0000707	Abnormality of the nervous system	5660	PSAP	ORPHA:206436
HP:0000707	Abnormality of the nervous system	5660	PSAP	ORPHA:309271
HP:0000707	Abnormality of the nervous system	5660	PSAP	ORPHA:309263
HP:0000707	Abnormality of the nervous system	5660	PSAP	ORPHA:309256
HP:0000707	Abnormality of the nervous system	5660	PSAP	OMIM:249900
HP:0000707	Abnormality of the nervous system	5660	PSAP	OMIM:610539
HP:0000707	Abnormality of the nervous system	79644	SRD5A3	ORPHA:324737
HP:0000707	Abnormality of the nervous system	79644	SRD5A3	OMIM:612713
HP:0000707	Abnormality of the nervous system	80704	SLC19A3	ORPHA:263410
HP:0000707	Abnormality of the nervous system	80704	SLC19A3	OMIM:607483
HP:0000707	Abnormality of the nervous system	27161	AGO2	OMIM:619149
HP:0000707	Abnormality of the nervous system	8665	EIF3F	OMIM:618295
HP:0000707	Abnormality of the nervous system	9131	AIFM1	OMIM:300816
HP:0000707	Abnormality of the nervous system	9131	AIFM1	OMIM:300232
HP:0000707	Abnormality of the nervous system	4771	NF2	ORPHA:637
HP:0000707	Abnormality of the nervous system	4771	NF2	ORPHA:2495
HP:0000707	Abnormality of the nervous system	4771	NF2	OMIM:101000
HP:0000707	Abnormality of the nervous system	4771	NF2	ORPHA:93921
HP:0000707	Abnormality of the nervous system	8517	IKBKG	OMIM:308300
HP:0000707	Abnormality of the nervous system	8517	IKBKG	ORPHA:464
HP:0000707	Abnormality of the nervous system	26275	HIBCH	OMIM:250620
HP:0000707	Abnormality of the nervous system	26275	HIBCH	ORPHA:88639
HP:0000707	Abnormality of the nervous system	50640	PNPLA8	OMIM:251950
HP:0000707	Abnormality of the nervous system	11005	SPINK5	ORPHA:634
HP:0000707	Abnormality of the nervous system	11198	SUPT16H	ORPHA:261229
HP:0000707	Abnormality of the nervous system	57680	CHD8	ORPHA:261229
HP:0000707	Abnormality of the nervous system	57680	CHD8	OMIM:615032
HP:0000707	Abnormality of the nervous system	199857	ALG14	OMIM:619031
HP:0000707	Abnormality of the nervous system	25970	SH2B1	ORPHA:261222
HP:0000707	Abnormality of the nervous system	25970	SH2B1	ORPHA:261197
HP:0000707	Abnormality of the nervous system	3763	KCNJ6	ORPHA:435628
HP:0000707	Abnormality of the nervous system	3763	KCNJ6	OMIM:614098
HP:0000707	Abnormality of the nervous system	23019	CNOT1	OMIM:619033
HP:0000707	Abnormality of the nervous system	23019	CNOT1	OMIM:618500
HP:0000707	Abnormality of the nervous system	8506	CNTNAP1	OMIM:618186
HP:0000707	Abnormality of the nervous system	83700	JAM3	OMIM:613730
HP:0000707	Abnormality of the nervous system	95	ACY1	ORPHA:137754
HP:0000707	Abnormality of the nervous system	95	ACY1	OMIM:609924
HP:0000707	Abnormality of the nervous system	7109	TRAPPC10	OMIM:620027
HP:0000707	Abnormality of the nervous system	10274	STAG1	ORPHA:502434
HP:0000707	Abnormality of the nervous system	10274	STAG1	OMIM:617635
HP:0000707	Abnormality of the nervous system	4774	NFIA	OMIM:613735
HP:0000707	Abnormality of the nervous system	4774	NFIA	ORPHA:401986
HP:0000707	Abnormality of the nervous system	118987	PDZD8	OMIM:620021
HP:0000707	Abnormality of the nervous system	80222	TARS2	OMIM:615918
HP:0000707	Abnormality of the nervous system	3073	HEXA	OMIM:272800
HP:0000707	Abnormality of the nervous system	4983	OPHN1	OMIM:300486
HP:0000707	Abnormality of the nervous system	54968	TMEM70	ORPHA:1194
HP:0000707	Abnormality of the nervous system	54968	TMEM70	OMIM:614052
HP:0000707	Abnormality of the nervous system	3141	HLCS	OMIM:253270
HP:0000707	Abnormality of the nervous system	3141	HLCS	ORPHA:79242
HP:0000707	Abnormality of the nervous system	55163	PNPO	ORPHA:79096
HP:0000707	Abnormality of the nervous system	55163	PNPO	OMIM:610090
HP:0000707	Abnormality of the nervous system	23431	AP4E1	OMIM:613744
HP:0000707	Abnormality of the nervous system	23431	AP4E1	ORPHA:280763
HP:0000707	Abnormality of the nervous system	846	CASR	OMIM:612899
HP:0000707	Abnormality of the nervous system	846	CASR	OMIM:601198
HP:0000707	Abnormality of the nervous system	10472	ZBTB18	ORPHA:36367
HP:0000707	Abnormality of the nervous system	10472	ZBTB18	OMIM:612337
HP:0000707	Abnormality of the nervous system	63908	NAPB	OMIM:620033
HP:0000707	Abnormality of the nervous system	1137	CHRNA4	OMIM:600513
HP:0000707	Abnormality of the nervous system	4509	MT-ATP8	ORPHA:254913
HP:0000707	Abnormality of the nervous system	514	ATP5F1E	ORPHA:254913
HP:0000707	Abnormality of the nervous system	513	ATP5F1D	ORPHA:254913
HP:0000707	Abnormality of the nervous system	84833	ATP5MK	ORPHA:254913
HP:0000707	Abnormality of the nervous system	91647	ATPAF2	ORPHA:254913
HP:0000707	Abnormality of the nervous system	100131801	PET100	OMIM:619055
HP:0000707	Abnormality of the nervous system	9739	SETD1A	OMIM:619056
HP:0000707	Abnormality of the nervous system	340024	SLC6A19	OMIM:234500
HP:0000707	Abnormality of the nervous system	340024	SLC6A19	ORPHA:2116
HP:0000707	Abnormality of the nervous system	84823	LMNB2	ORPHA:79087
HP:0000707	Abnormality of the nervous system	23732	FRRS1L	ORPHA:725
HP:0000707	Abnormality of the nervous system	10908	PNPLA6	ORPHA:3363
HP:0000707	Abnormality of the nervous system	10015	PDCD6IP	OMIM:620047
HP:0000707	Abnormality of the nervous system	3117	HLA-DQA1	OMIM:212750
HP:0000707	Abnormality of the nervous system	3119	HLA-DQB1	OMIM:212750
HP:0000707	Abnormality of the nervous system	8772	FADD	OMIM:613759
HP:0000707	Abnormality of the nervous system	8772	FADD	ORPHA:306550
HP:0000707	Abnormality of the nervous system	259232	NALCN	ORPHA:562528
HP:0000707	Abnormality of the nervous system	259232	NALCN	OMIM:615419
HP:0000707	Abnormality of the nervous system	259232	NALCN	OMIM:616266
HP:0000707	Abnormality of the nervous system	259232	NALCN	ORPHA:371364
HP:0000707	Abnormality of the nervous system	84334	COA8	OMIM:619061
HP:0000707	Abnormality of the nervous system	84334	COA8	ORPHA:436271
HP:0000707	Abnormality of the nervous system	26053	AUTS2	ORPHA:352490
HP:0000707	Abnormality of the nervous system	23461	ABCA5	ORPHA:2026
HP:0000707	Abnormality of the nervous system	79813	EHMT1	OMIM:610253
HP:0000707	Abnormality of the nervous system	79813	EHMT1	ORPHA:261652
HP:0000707	Abnormality of the nervous system	79813	EHMT1	ORPHA:96147
HP:0000707	Abnormality of the nervous system	10352	WARS2	ORPHA:572798
HP:0000707	Abnormality of the nervous system	10352	WARS2	OMIM:617710
HP:0000707	Abnormality of the nervous system	10382	TUBB4A	OMIM:612438
HP:0000707	Abnormality of the nervous system	6197	RPS6KA3	ORPHA:276630
HP:0000707	Abnormality of the nervous system	6197	RPS6KA3	OMIM:303600
HP:0000707	Abnormality of the nervous system	6197	RPS6KA3	ORPHA:192
HP:0000707	Abnormality of the nervous system	6908	TBP	OMIM:607136
HP:0000707	Abnormality of the nervous system	7915	ALDH5A1	OMIM:271980
HP:0000707	Abnormality of the nervous system	5091	PC	OMIM:266150
HP:0000707	Abnormality of the nervous system	149371	EXOC8	OMIM:619076
HP:0000707	Abnormality of the nervous system	285175	UNC80	OMIM:616801
HP:0000707	Abnormality of the nervous system	285175	UNC80	ORPHA:371364
HP:0000707	Abnormality of the nervous system	8314	BAP1	ORPHA:2495
HP:0000707	Abnormality of the nervous system	8314	BAP1	OMIM:619762
HP:0000707	Abnormality of the nervous system	84231	TRAF7	ORPHA:2495
HP:0000707	Abnormality of the nervous system	84231	TRAF7	OMIM:618164
HP:0000707	Abnormality of the nervous system	6608	SMO	ORPHA:2495
HP:0000707	Abnormality of the nervous system	7015	TERT	ORPHA:2495
HP:0000707	Abnormality of the nervous system	1282	COL4A1	OMIM:175780
HP:0000707	Abnormality of the nervous system	1282	COL4A1	ORPHA:899
HP:0000707	Abnormality of the nervous system	4784	NFIX	ORPHA:420179
HP:0000707	Abnormality of the nervous system	9719	ADAMTSL2	OMIM:231050
HP:0000707	Abnormality of the nervous system	22859	ADGRL1	OMIM:620065
HP:0000707	Abnormality of the nervous system	84992	PIGY	OMIM:616809
HP:0000707	Abnormality of the nervous system	84992	PIGY	ORPHA:247262
HP:0000707	Abnormality of the nervous system	10236	HNRNPR	OMIM:620073
HP:0000707	Abnormality of the nervous system	58508	KMT2C	ORPHA:261652
HP:0000707	Abnormality of the nervous system	58508	KMT2C	OMIM:617768
HP:0000707	Abnormality of the nervous system	26227	PHGDH	OMIM:601815
HP:0000707	Abnormality of the nervous system	1654	DDX3X	ORPHA:3338
HP:0000707	Abnormality of the nervous system	1654	DDX3X	OMIM:300958
HP:0000707	Abnormality of the nervous system	1654	DDX3X	ORPHA:457260
HP:0000707	Abnormality of the nervous system	92002	CCNQ	ORPHA:140952
HP:0000707	Abnormality of the nervous system	5591	PRKDC	OMIM:615966
HP:0000707	Abnormality of the nervous system	25828	TXN2	OMIM:616811
HP:0000707	Abnormality of the nervous system	114548	NLRP3	OMIM:607115
HP:0000707	Abnormality of the nervous system	3187	HNRNPH1	OMIM:620083
HP:0000707	Abnormality of the nervous system	63895	PIEZO2	OMIM:248700
HP:0000707	Abnormality of the nervous system	2937	GSS	OMIM:266130
HP:0000707	Abnormality of the nervous system	2778	GNAS	OMIM:612462
HP:0000707	Abnormality of the nervous system	2778	GNAS	OMIM:103580
HP:0000707	Abnormality of the nervous system	84317	CCDC115	OMIM:616828
HP:0000707	Abnormality of the nervous system	92154	MTSS2	OMIM:620086
HP:0000707	Abnormality of the nervous system	84978	FRMD5	OMIM:620094
HP:0000707	Abnormality of the nervous system	6253	RTN2	ORPHA:100993
HP:0000707	Abnormality of the nervous system	51271	UBAP1	ORPHA:100993
HP:0000707	Abnormality of the nervous system	197322	ACSF3	ORPHA:289504
HP:0000707	Abnormality of the nervous system	54413	NLGN3	OMIM:300425
HP:0000707	Abnormality of the nervous system	10159	ATP6AP2	OMIM:300423
HP:0000707	Abnormality of the nervous system	10159	ATP6AP2	ORPHA:363654
HP:0000707	Abnormality of the nervous system	23503	ZFYVE26	ORPHA:100996
HP:0000707	Abnormality of the nervous system	51004	COQ6	OMIM:614650
HP:0000707	Abnormality of the nervous system	51004	COQ6	ORPHA:93921
HP:0000707	Abnormality of the nervous system	2703	GJA8	OMIM:612474
HP:0000707	Abnormality of the nervous system	2702	GJA5	OMIM:612474
HP:0000707	Abnormality of the nervous system	57017	COQ9	OMIM:614654
HP:0000707	Abnormality of the nervous system	55690	PACS1	ORPHA:329224
HP:0000707	Abnormality of the nervous system	55690	PACS1	OMIM:615009
HP:0000707	Abnormality of the nervous system	79738	BBS10	OMIM:615987
HP:0000707	Abnormality of the nervous system	79738	BBS10	ORPHA:110
HP:0000707	Abnormality of the nervous system	3720	JARID2	OMIM:620098
HP:0000707	Abnormality of the nervous system	10878	CFHR3	OMIM:235400
HP:0000707	Abnormality of the nervous system	3075	CFH	OMIM:235400
HP:0000707	Abnormality of the nervous system	3078	CFHR1	OMIM:235400
HP:0000707	Abnormality of the nervous system	6683	SPAST	ORPHA:100985
HP:0000707	Abnormality of the nervous system	51621	KLF13	OMIM:612001
HP:0000707	Abnormality of the nervous system	471	ATIC	ORPHA:250977
HP:0000707	Abnormality of the nervous system	471	ATIC	OMIM:608688
HP:0000707	Abnormality of the nervous system	85358	SHANK3	OMIM:606232
HP:0000707	Abnormality of the nervous system	411	ARSB	OMIM:253200
HP:0000707	Abnormality of the nervous system	549	AUH	ORPHA:67046
HP:0000707	Abnormality of the nervous system	22880	MORC2	ORPHA:466768
HP:0000707	Abnormality of the nervous system	55784	MCTP2	ORPHA:1596
HP:0000707	Abnormality of the nervous system	56997	COQ8A	OMIM:612016
HP:0000707	Abnormality of the nervous system	56997	COQ8A	ORPHA:139485
HP:0000707	Abnormality of the nervous system	51010	EXOSC3	OMIM:614678
HP:0000707	Abnormality of the nervous system	51010	EXOSC3	ORPHA:2254
HP:0000707	Abnormality of the nervous system	1141	CHRNB2	OMIM:605375
HP:0000707	Abnormality of the nervous system	51218	GLRX5	OMIM:616859
HP:0000707	Abnormality of the nervous system	526	ATP6V1B2	ORPHA:79499
HP:0000707	Abnormality of the nervous system	526	ATP6V1B2	ORPHA:3473
HP:0000707	Abnormality of the nervous system	11253	MAN1B1	OMIM:614202
HP:0000707	Abnormality of the nervous system	11253	MAN1B1	ORPHA:397941
HP:0000707	Abnormality of the nervous system	7874	USP7	OMIM:616863
HP:0000707	Abnormality of the nervous system	7874	USP7	ORPHA:500055
HP:0000707	Abnormality of the nervous system	27315	PGAP2	OMIM:614207
HP:0000707	Abnormality of the nervous system	27315	PGAP2	ORPHA:247262
HP:0000707	Abnormality of the nervous system	4594	MMUT	OMIM:251000
HP:0000707	Abnormality of the nervous system	4594	MMUT	ORPHA:79312
HP:0000707	Abnormality of the nervous system	23400	ATP13A2	OMIM:606693
HP:0000707	Abnormality of the nervous system	1641	DCX	OMIM:300067
HP:0000707	Abnormality of the nervous system	1641	DCX	ORPHA:2148
HP:0000707	Abnormality of the nervous system	1105	CHD1	ORPHA:529965
HP:0000707	Abnormality of the nervous system	1105	CHD1	OMIM:617682
HP:0000707	Abnormality of the nervous system	5718	PSMD12	ORPHA:529962
HP:0000707	Abnormality of the nervous system	5718	PSMD12	OMIM:617516
HP:0000707	Abnormality of the nervous system	2186	BPTF	ORPHA:529962
HP:0000707	Abnormality of the nervous system	3758	KCNJ1	OMIM:241200
HP:0000707	Abnormality of the nervous system	23065	EMC1	OMIM:616875
HP:0000707	Abnormality of the nervous system	128989	TANGO2	OMIM:616878
HP:0000707	Abnormality of the nervous system	128989	TANGO2	ORPHA:480864
HP:0000707	Abnormality of the nervous system	80781	COL18A1	ORPHA:1571
HP:0000707	Abnormality of the nervous system	80781	COL18A1	OMIM:267750
HP:0000707	Abnormality of the nervous system	5062	PAK2	ORPHA:1571
HP:0000707	Abnormality of the nervous system	5062	PAK2	OMIM:618458
HP:0000707	Abnormality of the nervous system	55644	OSGEP	OMIM:617729
HP:0000707	Abnormality of the nervous system	55644	OSGEP	ORPHA:2065
HP:0000707	Abnormality of the nervous system	57572	DOCK6	OMIM:614219
HP:0000707	Abnormality of the nervous system	57572	DOCK6	ORPHA:974
HP:0000707	Abnormality of the nervous system	4644	MYO5A	ORPHA:79476
HP:0000707	Abnormality of the nervous system	4644	MYO5A	ORPHA:33445
HP:0000707	Abnormality of the nervous system	4644	MYO5A	OMIM:214450
HP:0000707	Abnormality of the nervous system	7074	TIAM1	OMIM:619908
HP:0000707	Abnormality of the nervous system	59336	PRDM13	OMIM:619909
HP:0000707	Abnormality of the nervous system	59336	PRDM13	OMIM:619761
HP:0000707	Abnormality of the nervous system	3835	KIF22	ORPHA:93360
HP:0000707	Abnormality of the nervous system	2464	FRA16E	OMIM:136570
HP:0000707	Abnormality of the nervous system	79784	MYH14	ORPHA:397744
HP:0000707	Abnormality of the nervous system	112858	TP53RK	OMIM:617730
HP:0000707	Abnormality of the nervous system	112858	TP53RK	ORPHA:2065
HP:0000707	Abnormality of the nervous system	81562	LMAN2L	OMIM:616887
HP:0000707	Abnormality of the nervous system	163786	SASS6	OMIM:616402
HP:0000707	Abnormality of the nervous system	490	ATP2B1	OMIM:619910
HP:0000707	Abnormality of the nervous system	4929	NR4A2	OMIM:619911
HP:0000707	Abnormality of the nervous system	4929	NR4A2	ORPHA:1617
HP:0000707	Abnormality of the nervous system	6925	TCF4	ORPHA:2896
HP:0000707	Abnormality of the nervous system	6925	TCF4	OMIM:610954
HP:0000707	Abnormality of the nervous system	26047	CNTNAP2	ORPHA:163681
HP:0000707	Abnormality of the nervous system	26047	CNTNAP2	OMIM:610042
HP:0000707	Abnormality of the nervous system	23209	MLC1	OMIM:604004
HP:0000707	Abnormality of the nervous system	51124	IER3IP1	OMIM:614231
HP:0000707	Abnormality of the nervous system	2890	GRIA1	OMIM:619927
HP:0000707	Abnormality of the nervous system	2890	GRIA1	OMIM:619931
HP:0000707	Abnormality of the nervous system	54805	CNNM2	OMIM:616418
HP:0000707	Abnormality of the nervous system	55164	SHQ1	OMIM:619922
HP:0000707	Abnormality of the nervous system	2767	GNA11	ORPHA:1556
HP:0000707	Abnormality of the nervous system	151188	ARL6IP6	ORPHA:1556
HP:0000707	Abnormality of the nervous system	3756	KCNH1	ORPHA:420561
HP:0000707	Abnormality of the nervous system	3756	KCNH1	OMIM:135500
HP:0000707	Abnormality of the nervous system	3756	KCNH1	ORPHA:3473
HP:0000707	Abnormality of the nervous system	3756	KCNH1	OMIM:611816
HP:0000707	Abnormality of the nervous system	5495	PPM1B	ORPHA:163693
HP:0000707	Abnormality of the nervous system	6519	SLC3A1	ORPHA:163693
HP:0000707	Abnormality of the nervous system	9581	PREPL	ORPHA:163693
HP:0000707	Abnormality of the nervous system	79823	CAMKMT	ORPHA:163693
HP:0000707	Abnormality of the nervous system	10717	AP4B1	ORPHA:280763
HP:0000707	Abnormality of the nervous system	10717	AP4B1	OMIM:614066
HP:0000707	Abnormality of the nervous system	11154	AP4S1	ORPHA:280763
HP:0000707	Abnormality of the nervous system	4841	NONO	ORPHA:466791
HP:0000707	Abnormality of the nervous system	4841	NONO	OMIM:300967
HP:0000707	Abnormality of the nervous system	57502	NLGN4X	OMIM:300495
HP:0000707	Abnormality of the nervous system	9320	TRIP12	OMIM:617752
HP:0000707	Abnormality of the nervous system	5879	RAC1	OMIM:617751
HP:0000707	Abnormality of the nervous system	5879	RAC1	ORPHA:500159
HP:0000707	Abnormality of the nervous system	440	ASNS	OMIM:615574
HP:0000707	Abnormality of the nervous system	5538	PPT1	OMIM:256730
HP:0000707	Abnormality of the nervous system	5455	POU3F3	OMIM:618604
HP:0000707	Abnormality of the nervous system	1203	CLN5	OMIM:256731
HP:0000707	Abnormality of the nervous system	5430	POLR2A	OMIM:618603
HP:0000707	Abnormality of the nervous system	3265	HRAS	ORPHA:2874
HP:0000707	Abnormality of the nervous system	3265	HRAS	OMIM:163200
HP:0000707	Abnormality of the nervous system	3265	HRAS	ORPHA:2612
HP:0000707	Abnormality of the nervous system	23529	CLCF1	ORPHA:1545
HP:0000707	Abnormality of the nervous system	22827	PUF60	OMIM:615583
HP:0000707	Abnormality of the nervous system	22827	PUF60	ORPHA:508488
HP:0000707	Abnormality of the nervous system	50484	RRM2B	OMIM:612075
HP:0000707	Abnormality of the nervous system	50484	RRM2B	ORPHA:254892
HP:0000707	Abnormality of the nervous system	547	KIF1A	OMIM:614255
HP:0000707	Abnormality of the nervous system	10369	CACNG2	OMIM:614256
HP:0000707	Abnormality of the nervous system	1497	CTNS	ORPHA:411634
HP:0000707	Abnormality of the nervous system	26235	FBXL4	OMIM:615471
HP:0000707	Abnormality of the nervous system	55823	VPS11	ORPHA:466934
HP:0000707	Abnormality of the nervous system	5238	PGM3	ORPHA:443811
HP:0000707	Abnormality of the nervous system	9254	CACNA2D2	OMIM:618501
HP:0000707	Abnormality of the nervous system	5927	KDM5A	OMIM:620820
HP:0000707	Abnormality of the nervous system	91801	ALKBH8	OMIM:618504
HP:0000707	Abnormality of the nervous system	4072	EPCAM	ORPHA:144
HP:0000707	Abnormality of the nervous system	4292	MLH1	ORPHA:144
HP:0000707	Abnormality of the nervous system	5395	PMS2	ORPHA:144
HP:0000707	Abnormality of the nervous system	7048	TGFBR2	ORPHA:144
HP:0000707	Abnormality of the nervous system	2956	MSH6	ORPHA:144
HP:0000707	Abnormality of the nervous system	5378	PMS1	ORPHA:144
HP:0000707	Abnormality of the nervous system	4436	MSH2	ORPHA:144
HP:0000707	Abnormality of the nervous system	4552	MTRR	OMIM:236270
HP:0000707	Abnormality of the nervous system	4552	MTRR	ORPHA:2169
HP:0000707	Abnormality of the nervous system	65993	MRPS34	OMIM:617664
HP:0000707	Abnormality of the nervous system	80816	ASXL3	OMIM:615485
HP:0000707	Abnormality of the nervous system	80816	ASXL3	ORPHA:352577
HP:0000707	Abnormality of the nervous system	1855	DVL1	OMIM:616331
HP:0000707	Abnormality of the nervous system	387787	LIPT2	OMIM:617668
HP:0000707	Abnormality of the nervous system	1841	DTYMK	OMIM:619847
HP:0000707	Abnormality of the nervous system	64072	CDH23	ORPHA:2965
HP:0000707	Abnormality of the nervous system	64072	CDH23	ORPHA:91347
HP:0000707	Abnormality of the nervous system	9049	AIP	ORPHA:2965
HP:0000707	Abnormality of the nervous system	55904	KMT2E	OMIM:618512
HP:0000707	Abnormality of the nervous system	10686	CLDN16	OMIM:248250
HP:0000707	Abnormality of the nervous system	51112	TRAPPC12	OMIM:617669
HP:0000707	Abnormality of the nervous system	51112	TRAPPC12	ORPHA:500144
HP:0000707	Abnormality of the nervous system	57082	KNL1	OMIM:604321
HP:0000707	Abnormality of the nervous system	100996717	NOTCH2NLC	OMIM:603472
HP:0000707	Abnormality of the nervous system	100996717	NOTCH2NLC	ORPHA:2289
HP:0000707	Abnormality of the nervous system	55650	PIGV	OMIM:239300
HP:0000707	Abnormality of the nervous system	55650	PIGV	ORPHA:247262
HP:0000707	Abnormality of the nervous system	284403	WDR62	OMIM:604317
HP:0000707	Abnormality of the nervous system	410	ARSA	ORPHA:309271
HP:0000707	Abnormality of the nervous system	410	ARSA	ORPHA:309263
HP:0000707	Abnormality of the nervous system	410	ARSA	OMIM:250100
HP:0000707	Abnormality of the nervous system	410	ARSA	ORPHA:309256
HP:0000707	Abnormality of the nervous system	348	APOE	OMIM:607822
HP:0000707	Abnormality of the nervous system	288	ANK3	OMIM:615493
HP:0000707	Abnormality of the nervous system	288	ANK3	ORPHA:356996
HP:0000707	Abnormality of the nervous system	23250	ATP11A	OMIM:619851
HP:0000707	Abnormality of the nervous system	818	CAMK2G	OMIM:618522
HP:0000707	Abnormality of the nervous system	5105	PCK1	OMIM:261680
HP:0000707	Abnormality of the nervous system	1020	CDK5	OMIM:616342
HP:0000707	Abnormality of the nervous system	7343	UBTF	OMIM:617672
HP:0000707	Abnormality of the nervous system	7343	UBTF	ORPHA:500180
HP:0000707	Abnormality of the nervous system	7994	KAT6A	ORPHA:457193
HP:0000707	Abnormality of the nervous system	7994	KAT6A	OMIM:616268
HP:0000707	Abnormality of the nervous system	2770	GNAI1	OMIM:619854
HP:0000707	Abnormality of the nervous system	1716	DGUOK	OMIM:251880
HP:0000707	Abnormality of the nervous system	4566	MT-TK	OMIM:545000
HP:0000707	Abnormality of the nervous system	4566	MT-TK	ORPHA:255210
HP:0000707	Abnormality of the nervous system	4565	MT-TI	OMIM:545000
HP:0000707	Abnormality of the nervous system	4567	MT-TL1	OMIM:545000
HP:0000707	Abnormality of the nervous system	4567	MT-TL1	ORPHA:550
HP:0000707	Abnormality of the nervous system	4567	MT-TL1	ORPHA:255210
HP:0000707	Abnormality of the nervous system	4567	MT-TL1	ORPHA:324525
HP:0000707	Abnormality of the nervous system	4571	MT-TP	OMIM:545000
HP:0000707	Abnormality of the nervous system	4558	MT-TF	OMIM:545000
HP:0000707	Abnormality of the nervous system	4558	MT-TF	ORPHA:550
HP:0000707	Abnormality of the nervous system	1193	CLIC2	ORPHA:324410
HP:0000707	Abnormality of the nervous system	5528	PPP2R5D	OMIM:616355
HP:0000707	Abnormality of the nervous system	5528	PPP2R5D	ORPHA:457279
HP:0000707	Abnormality of the nervous system	80776	B9D2	OMIM:614175
HP:0000707	Abnormality of the nervous system	80776	B9D2	ORPHA:475
HP:0000707	Abnormality of the nervous system	8216	LZTR1	ORPHA:93921
HP:0000707	Abnormality of the nervous system	8216	LZTR1	OMIM:605275
HP:0000707	Abnormality of the nervous system	1201	CLN3	OMIM:204200
HP:0000707	Abnormality of the nervous system	11193	WBP4	OMIM:620852
HP:0000707	Abnormality of the nervous system	23007	PLCH1	ORPHA:93925
HP:0000707	Abnormality of the nervous system	10716	TBR1	ORPHA:1617
HP:0000707	Abnormality of the nervous system	26834	RNU4-2	OMIM:620851
HP:0000707	Abnormality of the nervous system	788	SLC25A20	ORPHA:159
HP:0000707	Abnormality of the nervous system	788	SLC25A20	OMIM:212138
HP:0000707	Abnormality of the nervous system	4854	NOTCH3	OMIM:125310
HP:0000707	Abnormality of the nervous system	4854	NOTCH3	ORPHA:136
HP:0000707	Abnormality of the nervous system	92482	BBIP1	ORPHA:110
HP:0000707	Abnormality of the nervous system	11020	IFT27	ORPHA:110
HP:0000707	Abnormality of the nervous system	582	BBS1	ORPHA:110
HP:0000707	Abnormality of the nervous system	49855	SCAPER	ORPHA:110
HP:0000707	Abnormality of the nervous system	51057	WDPCP	ORPHA:110
HP:0000707	Abnormality of the nervous system	132320	SCLT1	ORPHA:110
HP:0000707	Abnormality of the nervous system	27241	BBS9	ORPHA:110
HP:0000707	Abnormality of the nervous system	84984	CEP19	ORPHA:110
HP:0000707	Abnormality of the nervous system	22954	TRIM32	ORPHA:110
HP:0000707	Abnormality of the nervous system	123016	TTC8	ORPHA:110
HP:0000707	Abnormality of the nervous system	26160	IFT172	ORPHA:110
HP:0000707	Abnormality of the nervous system	583	BBS2	ORPHA:110
HP:0000707	Abnormality of the nervous system	585	BBS4	ORPHA:110
HP:0000707	Abnormality of the nervous system	8195	MKKS	ORPHA:110
HP:0000707	Abnormality of the nervous system	54585	LZTFL1	ORPHA:110
HP:0000707	Abnormality of the nervous system	55212	BBS7	ORPHA:110
HP:0000707	Abnormality of the nervous system	166379	BBS12	ORPHA:110
HP:0000707	Abnormality of the nervous system	10806	SDCCAG8	ORPHA:110
HP:0000707	Abnormality of the nervous system	157657	CFAP418	ORPHA:110
HP:0000707	Abnormality of the nervous system	84100	ARL6	ORPHA:110
HP:0000707	Abnormality of the nervous system	129880	BBS5	ORPHA:110
HP:0000707	Abnormality of the nervous system	80173	IFT74	ORPHA:110
HP:0000707	Abnormality of the nervous system	80173	IFT74	ORPHA:475
HP:0000707	Abnormality of the nervous system	5518	PPP2R1A	OMIM:616362
HP:0000707	Abnormality of the nervous system	5518	PPP2R1A	ORPHA:457284
HP:0000707	Abnormality of the nervous system	26038	CHD5	OMIM:619873
HP:0000707	Abnormality of the nervous system	3590	IL11RA	OMIM:614188
HP:0000707	Abnormality of the nervous system	23126	POGZ	OMIM:616364
HP:0000707	Abnormality of the nervous system	23126	POGZ	ORPHA:468678
HP:0000707	Abnormality of the nervous system	55773	TBC1D23	OMIM:617695
HP:0000707	Abnormality of the nervous system	8558	CDK10	OMIM:617694
HP:0000707	Abnormality of the nervous system	92609	TIMM50	OMIM:617698
HP:0000707	Abnormality of the nervous system	92609	TIMM50	ORPHA:505216
HP:0000707	Abnormality of the nervous system	51692	CPSF3	OMIM:619876
HP:0000707	Abnormality of the nervous system	5590	PRKCZ	ORPHA:1606
HP:0000707	Abnormality of the nervous system	2563	GABRD	ORPHA:1606
HP:0000707	Abnormality of the nervous system	23013	SPEN	ORPHA:1606
HP:0000707	Abnormality of the nervous system	23013	SPEN	OMIM:619312
HP:0000707	Abnormality of the nervous system	8510	MMP23B	ORPHA:1606
HP:0000707	Abnormality of the nervous system	7798	LUZP1	ORPHA:1606
HP:0000707	Abnormality of the nervous system	6497	SKI	ORPHA:1606
HP:0000707	Abnormality of the nervous system	10630	PDPN	ORPHA:1606
HP:0000707	Abnormality of the nervous system	3339	HSPG2	ORPHA:1606
HP:0000707	Abnormality of the nervous system	10277	UBE4B	ORPHA:1606
HP:0000707	Abnormality of the nervous system	8514	KCNAB2	ORPHA:1606
HP:0000707	Abnormality of the nervous system	63976	PRDM16	ORPHA:1606
HP:0000707	Abnormality of the nervous system	54897	CASZ1	ORPHA:1606
HP:0000707	Abnormality of the nervous system	845	CASQ2	OMIM:604772
HP:0000707	Abnormality of the nervous system	845	CASQ2	OMIM:611938
HP:0000707	Abnormality of the nervous system	6262	RYR2	OMIM:604772
HP:0000707	Abnormality of the nervous system	148789	B3GALNT2	ORPHA:588
HP:0000707	Abnormality of the nervous system	148789	B3GALNT2	ORPHA:899
HP:0000707	Abnormality of the nervous system	729920	CRPPA	ORPHA:588
HP:0000707	Abnormality of the nervous system	729920	CRPPA	ORPHA:899
HP:0000707	Abnormality of the nervous system	1859	DYRK1A	ORPHA:464311
HP:0000707	Abnormality of the nervous system	1859	DYRK1A	ORPHA:268261
HP:0000707	Abnormality of the nervous system	1859	DYRK1A	OMIM:614104
HP:0000707	Abnormality of the nervous system	1822	ATN1	ORPHA:101
HP:0000707	Abnormality of the nervous system	1822	ATN1	OMIM:125370
HP:0000707	Abnormality of the nervous system	1822	ATN1	OMIM:618494
HP:0000707	Abnormality of the nervous system	285362	SUMF1	ORPHA:585
HP:0000707	Abnormality of the nervous system	472	ATM	ORPHA:100
HP:0000707	Abnormality of the nervous system	472	ATM	ORPHA:440437
HP:0000707	Abnormality of the nervous system	472	ATM	OMIM:208900
HP:0000707	Abnormality of the nervous system	55210	ATAD3A	ORPHA:496790
HP:0000707	Abnormality of the nervous system	55210	ATAD3A	OMIM:618810
HP:0000707	Abnormality of the nervous system	8818	DPM2	OMIM:615042
HP:0000707	Abnormality of the nervous system	9276	COPB2	OMIM:619884
HP:0000707	Abnormality of the nervous system	56098	PCDHGC4	OMIM:619880
HP:0000707	Abnormality of the nervous system	27068	PPA2	OMIM:617222
HP:0000707	Abnormality of the nervous system	4285	MIPEP	OMIM:617228
HP:0000707	Abnormality of the nervous system	3773	KCNJ16	OMIM:619406
HP:0000707	Abnormality of the nervous system	38	ACAT1	ORPHA:134
HP:0000707	Abnormality of the nervous system	5354	PLP1	OMIM:312080
HP:0000707	Abnormality of the nervous system	326	AIRE	OMIM:240300
HP:0000707	Abnormality of the nervous system	1758	DMP1	ORPHA:289176
HP:0000707	Abnormality of the nervous system	5167	ENPP1	ORPHA:289176
HP:0000707	Abnormality of the nervous system	5167	ENPP1	ORPHA:51608
HP:0000707	Abnormality of the nervous system	64919	BCL11B	OMIM:617237
HP:0000707	Abnormality of the nervous system	29960	MRM2	OMIM:618567
HP:0000707	Abnormality of the nervous system	374969	SVBP	OMIM:618569
HP:0000707	Abnormality of the nervous system	84295	PHF6	ORPHA:127
HP:0000707	Abnormality of the nervous system	84295	PHF6	OMIM:301900
HP:0000707	Abnormality of the nervous system	1967	EIF2B1	OMIM:603896
HP:0000707	Abnormality of the nervous system	10533	ATG7	OMIM:619422
HP:0000707	Abnormality of the nervous system	205327	C2orf69	OMIM:619423
HP:0000707	Abnormality of the nervous system	5881	RAC3	OMIM:618577
HP:0000707	Abnormality of the nervous system	26173	INTS1	OMIM:618571
HP:0000707	Abnormality of the nervous system	55656	INTS8	OMIM:618572
HP:0000707	Abnormality of the nervous system	171546	SPTSSA	OMIM:620416
HP:0000707	Abnormality of the nervous system	171546	SPTSSA	OMIM:620417
HP:0000707	Abnormality of the nervous system	27429	HTRA2	OMIM:617248
HP:0000707	Abnormality of the nervous system	4212	MEIS2	ORPHA:261190
HP:0000707	Abnormality of the nervous system	3242	HPD	OMIM:276710
HP:0000707	Abnormality of the nervous system	389827	MYMK	OMIM:254940
HP:0000707	Abnormality of the nervous system	4126	MANBA	ORPHA:118
HP:0000707	Abnormality of the nervous system	4126	MANBA	OMIM:248510
HP:0000707	Abnormality of the nervous system	149233	IL23R	ORPHA:117
HP:0000707	Abnormality of the nervous system	3586	IL10	ORPHA:117
HP:0000707	Abnormality of the nervous system	3586	IL10	ORPHA:536
HP:0000707	Abnormality of the nervous system	1230	CCR1	ORPHA:117
HP:0000707	Abnormality of the nervous system	3592	IL12A	ORPHA:117
HP:0000707	Abnormality of the nervous system	101928376	IL12A-AS1	ORPHA:117
HP:0000707	Abnormality of the nervous system	7099	TLR4	ORPHA:117
HP:0000707	Abnormality of the nervous system	3459	IFNGR1	ORPHA:117
HP:0000707	Abnormality of the nervous system	720	C4A	ORPHA:117
HP:0000707	Abnormality of the nervous system	720	C4A	ORPHA:536
HP:0000707	Abnormality of the nervous system	337867	UBAC2	ORPHA:117
HP:0000707	Abnormality of the nervous system	51752	ERAP1	ORPHA:117
HP:0000707	Abnormality of the nervous system	8302	KLRC4	ORPHA:117
HP:0000707	Abnormality of the nervous system	291	SLC25A4	ORPHA:254892
HP:0000707	Abnormality of the nervous system	291	SLC25A4	OMIM:617184
HP:0000707	Abnormality of the nervous system	11232	POLG2	ORPHA:254892
HP:0000707	Abnormality of the nervous system	11232	POLG2	OMIM:610131
HP:0000707	Abnormality of the nervous system	9488	PIGB	OMIM:618580
HP:0000707	Abnormality of the nervous system	4572	MT-TQ	ORPHA:550
HP:0000707	Abnormality of the nervous system	4512	MT-CO1	ORPHA:550
HP:0000707	Abnormality of the nervous system	4513	MT-CO2	ORPHA:550
HP:0000707	Abnormality of the nervous system	4514	MT-CO3	ORPHA:550
HP:0000707	Abnormality of the nervous system	4578	MT-TW	ORPHA:550
HP:0000707	Abnormality of the nervous system	4578	MT-TW	ORPHA:255210
HP:0000707	Abnormality of the nervous system	4540	MT-ND5	ORPHA:550
HP:0000707	Abnormality of the nervous system	4540	MT-ND5	ORPHA:255210
HP:0000707	Abnormality of the nervous system	4541	MT-ND6	ORPHA:550
HP:0000707	Abnormality of the nervous system	4541	MT-ND6	ORPHA:255210
HP:0000707	Abnormality of the nervous system	4535	MT-ND1	ORPHA:550
HP:0000707	Abnormality of the nervous system	4535	MT-ND1	ORPHA:255210
HP:0000707	Abnormality of the nervous system	4538	MT-ND4	ORPHA:550
HP:0000707	Abnormality of the nervous system	4538	MT-ND4	ORPHA:255210
HP:0000707	Abnormality of the nervous system	4574	MT-TS1	ORPHA:550
HP:0000707	Abnormality of the nervous system	4574	MT-TS1	OMIM:220110
HP:0000707	Abnormality of the nervous system	4575	MT-TS2	ORPHA:550
HP:0000707	Abnormality of the nervous system	4564	MT-TH	ORPHA:550
HP:0000707	Abnormality of the nervous system	84894	LINGO1	OMIM:618103
HP:0000707	Abnormality of the nervous system	123606	NIPA1	ORPHA:261183
HP:0000707	Abnormality of the nervous system	123606	NIPA1	OMIM:600363
HP:0000707	Abnormality of the nervous system	7283	TUBG1	ORPHA:261183
HP:0000707	Abnormality of the nervous system	7283	TUBG1	OMIM:615412
HP:0000707	Abnormality of the nervous system	81614	NIPA2	ORPHA:261183
HP:0000707	Abnormality of the nervous system	54973	INTS11	OMIM:620428
HP:0000707	Abnormality of the nervous system	92335	STRADA	ORPHA:500533
HP:0000707	Abnormality of the nervous system	92335	STRADA	OMIM:611087
HP:0000707	Abnormality of the nervous system	6418	SET	OMIM:618106
HP:0000707	Abnormality of the nervous system	2653	GCSH	OMIM:620423
HP:0000707	Abnormality of the nervous system	9526	MPDU1	OMIM:609180
HP:0000707	Abnormality of the nervous system	9526	MPDU1	ORPHA:79323
HP:0000707	Abnormality of the nervous system	60675	PROK2	OMIM:610628
HP:0000707	Abnormality of the nervous system	60675	PROK2	ORPHA:478
HP:0000707	Abnormality of the nervous system	1120	CHKB	OMIM:602541
HP:0000707	Abnormality of the nervous system	128869	PIGU	OMIM:618590
HP:0000707	Abnormality of the nervous system	745	MYRF	OMIM:618113
HP:0000707	Abnormality of the nervous system	5649	RELN	ORPHA:89844
HP:0000707	Abnormality of the nervous system	10300	KATNB1	ORPHA:89844
HP:0000707	Abnormality of the nervous system	10300	KATNB1	OMIM:616212
HP:0000707	Abnormality of the nervous system	54820	NDE1	ORPHA:89844
HP:0000707	Abnormality of the nervous system	54820	NDE1	ORPHA:2177
HP:0000707	Abnormality of the nervous system	54820	NDE1	OMIM:614019
HP:0000707	Abnormality of the nervous system	57520	HECW2	OMIM:617268
HP:0000707	Abnormality of the nervous system	5053	PAH	OMIM:261600
HP:0000707	Abnormality of the nervous system	5053	PAH	ORPHA:79254
HP:0000707	Abnormality of the nervous system	5053	PAH	ORPHA:2209
HP:0000707	Abnormality of the nervous system	4952	OCRL	ORPHA:534
HP:0000707	Abnormality of the nervous system	4952	OCRL	OMIM:309000
HP:0000707	Abnormality of the nervous system	2215	FCGR3B	ORPHA:536
HP:0000707	Abnormality of the nervous system	3684	ITGAM	ORPHA:536
HP:0000707	Abnormality of the nervous system	221895	JAZF1	ORPHA:536
HP:0000707	Abnormality of the nervous system	7292	TNFSF4	ORPHA:536
HP:0000707	Abnormality of the nervous system	640	BLK	ORPHA:536
HP:0000707	Abnormality of the nervous system	55024	BANK1	ORPHA:536
HP:0000707	Abnormality of the nervous system	3500	IGHG1	ORPHA:536
HP:0000707	Abnormality of the nervous system	1380	CR2	ORPHA:536
HP:0000707	Abnormality of the nervous system	5133	PDCD1	ORPHA:536
HP:0000707	Abnormality of the nervous system	2113	ETS1	ORPHA:536
HP:0000707	Abnormality of the nervous system	10318	TNIP1	ORPHA:536
HP:0000707	Abnormality of the nervous system	7332	UBE2L3	ORPHA:536
HP:0000707	Abnormality of the nervous system	79932	KIAA0319L	ORPHA:536
HP:0000707	Abnormality of the nervous system	3663	IRF5	ORPHA:536
HP:0000707	Abnormality of the nervous system	3123	HLA-DRB1	ORPHA:536
HP:0000707	Abnormality of the nervous system	721	C4B	ORPHA:536
HP:0000707	Abnormality of the nervous system	51284	TLR7	ORPHA:536
HP:0000707	Abnormality of the nervous system	54899	PXK	ORPHA:536
HP:0000707	Abnormality of the nervous system	7128	TNFAIP3	ORPHA:536
HP:0000707	Abnormality of the nervous system	537	ATP6AP1	OMIM:300972
HP:0000707	Abnormality of the nervous system	1621	DBH	OMIM:223360
HP:0000707	Abnormality of the nervous system	51704	GPRC5B	OMIM:620447
HP:0000707	Abnormality of the nervous system	361	AQP4	OMIM:620448
HP:0000707	Abnormality of the nervous system	3376	IARS1	ORPHA:541423
HP:0000707	Abnormality of the nervous system	3376	IARS1	OMIM:617093
HP:0000707	Abnormality of the nervous system	9675	TTI1	OMIM:620445
HP:0000707	Abnormality of the nervous system	1312	COMT	ORPHA:567
HP:0000707	Abnormality of the nervous system	221037	JMJD1C	ORPHA:567
HP:0000707	Abnormality of the nervous system	6239	RREB1	ORPHA:567
HP:0000707	Abnormality of the nervous system	6899	TBX1	ORPHA:567
HP:0000707	Abnormality of the nervous system	6899	TBX1	ORPHA:1727
HP:0000707	Abnormality of the nervous system	6899	TBX1	OMIM:188400
HP:0000707	Abnormality of the nervous system	7290	HIRA	ORPHA:567
HP:0000707	Abnormality of the nervous system	9632	SEC24C	ORPHA:567
HP:0000707	Abnormality of the nervous system	7353	UFD1	ORPHA:567
HP:0000707	Abnormality of the nervous system	421	ARVCF	ORPHA:567
HP:0000707	Abnormality of the nervous system	8260	NAA10	ORPHA:568
HP:0000707	Abnormality of the nervous system	8260	NAA10	OMIM:309800
HP:0000707	Abnormality of the nervous system	54880	BCOR	ORPHA:568
HP:0000707	Abnormality of the nervous system	54880	BCOR	OMIM:300166
HP:0000707	Abnormality of the nervous system	54880	BCOR	OMIM:309800
HP:0000707	Abnormality of the nervous system	538	ATP7A	ORPHA:565
HP:0000707	Abnormality of the nervous system	538	ATP7A	OMIM:304150
HP:0000707	Abnormality of the nervous system	538	ATP7A	OMIM:309400
HP:0000707	Abnormality of the nervous system	80311	KLHL15	OMIM:300982
HP:0000707	Abnormality of the nervous system	6045	RNF2	OMIM:619460
HP:0000707	Abnormality of the nervous system	6557	SLC12A1	OMIM:601678
HP:0000707	Abnormality of the nervous system	7161	TP73	OMIM:619466
HP:0000707	Abnormality of the nervous system	2009	EML1	OMIM:600348
HP:0000707	Abnormality of the nervous system	9758	FRMPD4	OMIM:300983
HP:0000707	Abnormality of the nervous system	3188	HNRNPH2	OMIM:300986
HP:0000707	Abnormality of the nervous system	1974	EIF4A2	OMIM:620455
HP:0000707	Abnormality of the nervous system	4548	MTR	OMIM:250940
HP:0000707	Abnormality of the nervous system	6874	TAF4	OMIM:620450
HP:0000707	Abnormality of the nervous system	84065	TMEM222	OMIM:619470
HP:0000707	Abnormality of the nervous system	57187	THOC2	OMIM:300957
HP:0000707	Abnormality of the nervous system	57187	THOC2	ORPHA:457240
HP:0000707	Abnormality of the nervous system	2892	GRIA3	ORPHA:364028
HP:0000707	Abnormality of the nervous system	2892	GRIA3	OMIM:300699
HP:0000707	Abnormality of the nervous system	4576	MT-TT	ORPHA:254857
HP:0000707	Abnormality of the nervous system	348180	CTU2	OMIM:618142
HP:0000707	Abnormality of the nervous system	54539	NDUFB11	OMIM:300952
HP:0000707	Abnormality of the nervous system	54539	NDUFB11	ORPHA:2556
HP:0000707	Abnormality of the nervous system	54539	NDUFB11	OMIM:309801
HP:0000707	Abnormality of the nervous system	94005	PIGS	OMIM:618143
HP:0000707	Abnormality of the nervous system	378884	NHLRC1	ORPHA:501
HP:0000707	Abnormality of the nervous system	7957	EPM2A	ORPHA:501
HP:0000707	Abnormality of the nervous system	10682	EBP	OMIM:300960
HP:0000707	Abnormality of the nervous system	10682	EBP	ORPHA:401973
HP:0000707	Abnormality of the nervous system	2222	FDFT1	OMIM:618156
HP:0000707	Abnormality of the nervous system	6872	TAF1	OMIM:300966
HP:0000707	Abnormality of the nervous system	6872	TAF1	ORPHA:480907
HP:0000707	Abnormality of the nervous system	8567	MADD	OMIM:619004
HP:0000707	Abnormality of the nervous system	8567	MADD	OMIM:619005
HP:0000707	Abnormality of the nervous system	2760	GM2A	ORPHA:309246
HP:0000707	Abnormality of the nervous system	2760	GM2A	OMIM:272750
HP:0000707	Abnormality of the nervous system	5058	PAK1	OMIM:618158
HP:0000707	Abnormality of the nervous system	8239	USP9X	OMIM:300968
HP:0000707	Abnormality of the nervous system	8239	USP9X	ORPHA:480880
HP:0000707	Abnormality of the nervous system	79152	FA2H	ORPHA:171629
HP:0000707	Abnormality of the nervous system	79152	FA2H	OMIM:612319
HP:0000707	Abnormality of the nervous system	9373	PLAA	ORPHA:521426
HP:0000707	Abnormality of the nervous system	9373	PLAA	OMIM:617527
HP:0000707	Abnormality of the nervous system	2998	GYS2	ORPHA:2089
HP:0000707	Abnormality of the nervous system	2998	GYS2	OMIM:240600
HP:0000707	Abnormality of the nervous system	57038	RARS2	OMIM:611523
HP:0000707	Abnormality of the nervous system	3145	HMBS	OMIM:176000
HP:0000707	Abnormality of the nervous system	3145	HMBS	ORPHA:79276
HP:0000707	Abnormality of the nervous system	10681	GNB5	ORPHA:542306
HP:0000707	Abnormality of the nervous system	10681	GNB5	OMIM:617173
HP:0000707	Abnormality of the nervous system	10681	GNB5	OMIM:617182
HP:0000707	Abnormality of the nervous system	60	ACTB	OMIM:620475
HP:0000707	Abnormality of the nervous system	60	ACTB	OMIM:243310
HP:0000707	Abnormality of the nervous system	60	ACTB	ORPHA:2995
HP:0000707	Abnormality of the nervous system	3516	RBPJ	ORPHA:974
HP:0000707	Abnormality of the nervous system	57514	ARHGAP31	ORPHA:974
HP:0000707	Abnormality of the nervous system	57514	ARHGAP31	OMIM:100300
HP:0000707	Abnormality of the nervous system	285203	EOGT	ORPHA:974
HP:0000707	Abnormality of the nervous system	54567	DLL4	ORPHA:974
HP:0000707	Abnormality of the nervous system	1200	TPP1	ORPHA:284324
HP:0000707	Abnormality of the nervous system	1200	TPP1	OMIM:204500
HP:0000707	Abnormality of the nervous system	3090	HIC1	ORPHA:531
HP:0000707	Abnormality of the nervous system	5048	PAFAH1B1	ORPHA:531
HP:0000707	Abnormality of the nervous system	5048	PAFAH1B1	ORPHA:95232
HP:0000707	Abnormality of the nervous system	5048	PAFAH1B1	OMIM:607432
HP:0000707	Abnormality of the nervous system	7531	YWHAE	ORPHA:531
HP:0000707	Abnormality of the nervous system	23387	SIK3	OMIM:618162
HP:0000707	Abnormality of the nervous system	63899	NSUN3	OMIM:619012
HP:0000707	Abnormality of the nervous system	727676	SNORD118	ORPHA:542310
HP:0000707	Abnormality of the nervous system	727676	SNORD118	OMIM:614561
HP:0000707	Abnormality of the nervous system	11043	MID2	OMIM:300928
HP:0000707	Abnormality of the nervous system	84081	NSRP1	OMIM:620001
HP:0000707	Abnormality of the nervous system	54936	ADPRS	OMIM:618170
HP:0000707	Abnormality of the nervous system	114034	TOE1	ORPHA:284339
HP:0000707	Abnormality of the nervous system	114034	TOE1	OMIM:614969
HP:0000707	Abnormality of the nervous system	3839	KPNA3	ORPHA:171612
HP:0000707	Abnormality of the nervous system	84842	HPDL	OMIM:619026
HP:0000707	Abnormality of the nervous system	5860	QDPR	OMIM:261630
HP:0000707	Abnormality of the nervous system	1496	CTNNA2	OMIM:618174
HP:0000707	Abnormality of the nervous system	83550	GPR101	OMIM:300942
HP:0000707	Abnormality of the nervous system	6559	SLC12A3	OMIM:263800
HP:0000707	Abnormality of the nervous system	79693	YRDC	ORPHA:2065
HP:0000707	Abnormality of the nervous system	51002	TPRKB	ORPHA:2065
HP:0000707	Abnormality of the nervous system	84520	GON7	ORPHA:2065
HP:0000707	Abnormality of the nervous system	8270	LAGE3	ORPHA:2065
HP:0000707	Abnormality of the nervous system	8270	LAGE3	OMIM:301006
HP:0000707	Abnormality of the nervous system	55294	FBXW7	OMIM:620012
HP:0000707	Abnormality of the nervous system	9898	UBAP2L	OMIM:620494
HP:0000707	Abnormality of the nervous system	6095	RORA	OMIM:618060
HP:0000707	Abnormality of the nervous system	1183	CLCN4	OMIM:300114
HP:0000707	Abnormality of the nervous system	1183	CLCN4	ORPHA:485350
HP:0000707	Abnormality of the nervous system	5393	EXOSC9	OMIM:618065
HP:0000707	Abnormality of the nervous system	5393	EXOSC9	ORPHA:2254
HP:0000707	Abnormality of the nervous system	123263	MTFMT	OMIM:614947
HP:0000707	Abnormality of the nervous system	80232	WDR26	ORPHA:513456
HP:0000707	Abnormality of the nervous system	80232	WDR26	OMIM:617616
HP:0000707	Abnormality of the nervous system	1278	COL1A2	ORPHA:230851
HP:0000707	Abnormality of the nervous system	9693	RAPGEF2	OMIM:618075
HP:0000707	Abnormality of the nervous system	51506	UFC1	OMIM:618076
HP:0000707	Abnormality of the nervous system	63916	ELMO2	ORPHA:3019
HP:0000707	Abnormality of the nervous system	4010	LMX1B	ORPHA:495818
HP:0000707	Abnormality of the nervous system	4010	LMX1B	ORPHA:2614
HP:0000707	Abnormality of the nervous system	80055	PGAP1	OMIM:615802
HP:0000707	Abnormality of the nervous system	6662	SOX9	OMIM:114290
HP:0000707	Abnormality of the nervous system	10978	CLP1	OMIM:615803
HP:0000707	Abnormality of the nervous system	10978	CLP1	ORPHA:411493
HP:0000707	Abnormality of the nervous system	10225	CD96	OMIM:211750
HP:0000707	Abnormality of the nervous system	10225	CD96	ORPHA:1308
HP:0000707	Abnormality of the nervous system	275	AMT	OMIM:620398
HP:0000707	Abnormality of the nervous system	271	AMPD2	OMIM:615809
HP:0000707	Abnormality of the nervous system	93210	PGAP3	ORPHA:247262
HP:0000707	Abnormality of the nervous system	93210	PGAP3	OMIM:615716
HP:0000707	Abnormality of the nervous system	8913	CACNA1G	OMIM:618087
HP:0000707	Abnormality of the nervous system	64207	IRF2BPL	OMIM:618088
HP:0000707	Abnormality of the nervous system	80204	FBXO11	OMIM:618089
HP:0000707	Abnormality of the nervous system	1509	CTSD	OMIM:610127
HP:0000707	Abnormality of the nervous system	501	ALDH7A1	ORPHA:3006
HP:0000707	Abnormality of the nervous system	11212	PLPBP	ORPHA:3006
HP:0000707	Abnormality of the nervous system	57531	HACE1	ORPHA:464282
HP:0000707	Abnormality of the nervous system	57531	HACE1	OMIM:616756
HP:0000707	Abnormality of the nervous system	7852	CXCR4	ORPHA:51636
HP:0000707	Abnormality of the nervous system	1009	CDH11	ORPHA:1299
HP:0000707	Abnormality of the nervous system	84300	UQCC2	OMIM:615824
HP:0000707	Abnormality of the nervous system	113235	SLC46A1	OMIM:229050
HP:0000707	Abnormality of the nervous system	113235	SLC46A1	ORPHA:90045
HP:0000707	Abnormality of the nervous system	4036	LRP2	ORPHA:2143
HP:0000707	Abnormality of the nervous system	4036	LRP2	OMIM:222448
HP:0000707	Abnormality of the nervous system	3782	KCNN3	ORPHA:3473
HP:0000707	Abnormality of the nervous system	54496	PRMT7	ORPHA:464288
HP:0000707	Abnormality of the nervous system	593	BCKDHA	OMIM:248600
HP:0000707	Abnormality of the nervous system	5063	PAK3	OMIM:300558
HP:0000707	Abnormality of the nervous system	9508	ADAMTS3	ORPHA:2136
HP:0000707	Abnormality of the nervous system	79633	FAT4	ORPHA:2136
HP:0000707	Abnormality of the nervous system	4519	MT-CYB	ORPHA:137675
HP:0000707	Abnormality of the nervous system	79753	SNIP1	OMIM:614501
HP:0000707	Abnormality of the nervous system	3418	IDH2	OMIM:613657
HP:0000707	Abnormality of the nervous system	10056	FARSB	OMIM:613658
HP:0000707	Abnormality of the nervous system	3748	KCNC3	ORPHA:98768
HP:0000707	Abnormality of the nervous system	493856	CISD2	ORPHA:3463
HP:0000707	Abnormality of the nervous system	7466	WFS1	ORPHA:3463
HP:0000707	Abnormality of the nervous system	7466	WFS1	OMIM:222300
HP:0000707	Abnormality of the nervous system	10436	EMG1	ORPHA:1270
HP:0000707	Abnormality of the nervous system	81887	LAS1L	ORPHA:3459
HP:0000707	Abnormality of the nervous system	440138	ALG11	OMIM:613661
HP:0000707	Abnormality of the nervous system	440138	ALG11	ORPHA:280071
HP:0000707	Abnormality of the nervous system	5627	PROS1	OMIM:614514
HP:0000707	Abnormality of the nervous system	2050	EPHB4	ORPHA:137667
HP:0000707	Abnormality of the nervous system	5921	RASA1	ORPHA:137667
HP:0000707	Abnormality of the nervous system	3708	ITPR1	OMIM:117360
HP:0000707	Abnormality of the nervous system	3708	ITPR1	OMIM:206700
HP:0000707	Abnormality of the nervous system	9440	MED17	OMIM:613668
HP:0000707	Abnormality of the nervous system	3662	IRF4	ORPHA:3452
HP:0000707	Abnormality of the nervous system	4846	NOS3	OMIM:189800
HP:0000707	Abnormality of the nervous system	8813	DPM1	OMIM:608799
HP:0000707	Abnormality of the nervous system	8813	DPM1	ORPHA:79322
HP:0000707	Abnormality of the nervous system	57393	CLTRN	ORPHA:2116
HP:0000707	Abnormality of the nervous system	440193	CCDC88C	OMIM:236600
HP:0000707	Abnormality of the nervous system	2146	EZH2	OMIM:277590
HP:0000707	Abnormality of the nervous system	445	ASS1	OMIM:215700
HP:0000707	Abnormality of the nervous system	64116	SLC39A8	ORPHA:468699
HP:0000707	Abnormality of the nervous system	64116	SLC39A8	OMIM:616721
HP:0000707	Abnormality of the nervous system	5832	ALDH18A1	ORPHA:447753
HP:0000707	Abnormality of the nervous system	5832	ALDH18A1	OMIM:219150
HP:0000707	Abnormality of the nervous system	28962	OSTM1	OMIM:259720
HP:0000707	Abnormality of the nervous system	28962	OSTM1	ORPHA:85179
HP:0000707	Abnormality of the nervous system	55023	PHIP	ORPHA:589905
HP:0000707	Abnormality of the nervous system	80331	DNAJC5	OMIM:162350
HP:0000707	Abnormality of the nervous system	54704	PDP1	OMIM:608782
HP:0000707	Abnormality of the nervous system	8600	TNFSF11	OMIM:259710
HP:0000707	Abnormality of the nervous system	91949	COG7	OMIM:608779
HP:0000707	Abnormality of the nervous system	91949	COG7	ORPHA:79333
HP:0000707	Abnormality of the nervous system	79796	ALG9	OMIM:608776
HP:0000707	Abnormality of the nervous system	79796	ALG9	ORPHA:79328
HP:0000707	Abnormality of the nervous system	59	ACTA2	ORPHA:2573
HP:0000707	Abnormality of the nervous system	57674	RNF213	ORPHA:2573
HP:0000707	Abnormality of the nervous system	1776	DNASE1L3	ORPHA:36412
HP:0000707	Abnormality of the nervous system	26115	TANC2	OMIM:618906
HP:0000707	Abnormality of the nervous system	55593	OTUD5	OMIM:301056
HP:0000707	Abnormality of the nervous system	889	KRIT1	ORPHA:221061
HP:0000707	Abnormality of the nervous system	889	KRIT1	OMIM:116860
HP:0000707	Abnormality of the nervous system	998	CDC42	OMIM:616737
HP:0000707	Abnormality of the nervous system	998	CDC42	ORPHA:487796
HP:0000707	Abnormality of the nervous system	10982	MAPRE2	OMIM:616734
HP:0000707	Abnormality of the nervous system	79731	NARS2	ORPHA:79134
HP:0000707	Abnormality of the nervous system	79731	NARS2	OMIM:616239
HP:0000707	Abnormality of the nervous system	4694	NDUFA1	OMIM:301020
HP:0000707	Abnormality of the nervous system	27235	COQ2	OMIM:607426
HP:0000707	Abnormality of the nervous system	63035	BCORL1	OMIM:301029
HP:0000707	Abnormality of the nervous system	1778	DYNC1H1	OMIM:614563
HP:0000707	Abnormality of the nervous system	3796	KIF2A	OMIM:615411
HP:0000707	Abnormality of the nervous system	10616	RBCK1	OMIM:615895
HP:0000707	Abnormality of the nervous system	80746	TSEN2	OMIM:612389
HP:0000707	Abnormality of the nervous system	80746	TSEN2	ORPHA:2524
HP:0000707	Abnormality of the nervous system	100506658	OCLN	ORPHA:1229
HP:0000707	Abnormality of the nervous system	100506658	OCLN	OMIM:251290
HP:0000707	Abnormality of the nervous system	1349	COX7B	ORPHA:2556
HP:0000707	Abnormality of the nervous system	1349	COX7B	OMIM:309801
HP:0000707	Abnormality of the nervous system	3052	HCCS	ORPHA:2556
HP:0000707	Abnormality of the nervous system	3052	HCCS	OMIM:309801
HP:0000707	Abnormality of the nervous system	51185	CRBN	OMIM:607417
HP:0000707	Abnormality of the nervous system	5422	POLA1	OMIM:301030
HP:0000707	Abnormality of the nervous system	10943	MSL3	OMIM:301032
HP:0000707	Abnormality of the nervous system	57511	COG6	OMIM:614576
HP:0000707	Abnormality of the nervous system	83696	TRAPPC9	ORPHA:352530
HP:0000707	Abnormality of the nervous system	83696	TRAPPC9	OMIM:613192
HP:0000707	Abnormality of the nervous system	56479	KCNQ5	OMIM:617601
HP:0000707	Abnormality of the nervous system	9343	EFTUD2	ORPHA:79113
HP:0000707	Abnormality of the nervous system	9343	EFTUD2	OMIM:610536
HP:0000707	Abnormality of the nervous system	23476	BRD4	ORPHA:199
HP:0000707	Abnormality of the nervous system	6878	TAF6	ORPHA:199
HP:0000707	Abnormality of the nervous system	157680	VPS13B	ORPHA:193
HP:0000707	Abnormality of the nervous system	157680	VPS13B	OMIM:216550
HP:0000707	Abnormality of the nervous system	71	ACTG1	OMIM:614583
HP:0000707	Abnormality of the nervous system	71	ACTG1	ORPHA:2995
HP:0000707	Abnormality of the nervous system	368	ABCC6	ORPHA:51608
HP:0000707	Abnormality of the nervous system	81689	ISCA1	OMIM:617613
HP:0000707	Abnormality of the nervous system	64857	PLEKHG2	OMIM:616763
HP:0000707	Abnormality of the nervous system	51520	LARS1	OMIM:615438
HP:0000707	Abnormality of the nervous system	25914	RTTN	ORPHA:468631
HP:0000707	Abnormality of the nervous system	25914	RTTN	OMIM:614833
HP:0000707	Abnormality of the nervous system	23545	ATP6V0A2	OMIM:219200
HP:0000707	Abnormality of the nervous system	23545	ATP6V0A2	ORPHA:357074
HP:0000707	Abnormality of the nervous system	63932	STEEP1	OMIM:301013
HP:0000707	Abnormality of the nervous system	26503	SLC17A5	OMIM:604369
HP:0000707	Abnormality of the nervous system	26503	SLC17A5	OMIM:269920
HP:0000707	Abnormality of the nervous system	55617	TASP1	OMIM:618950
HP:0000707	Abnormality of the nervous system	6182	MRPL12	OMIM:618951
HP:0000707	Abnormality of the nervous system	79042	TSEN34	ORPHA:2524
HP:0000707	Abnormality of the nervous system	80210	ARMC9	OMIM:617622
HP:0000707	Abnormality of the nervous system	80210	ARMC9	ORPHA:475
HP:0000707	Abnormality of the nervous system	3832	KIF11	ORPHA:2526
HP:0000707	Abnormality of the nervous system	4190	MDH1	OMIM:618959
HP:0000707	Abnormality of the nervous system	5654	HTRA1	OMIM:616779
HP:0000707	Abnormality of the nervous system	9681	DEPDC5	OMIM:604364
HP:0000707	Abnormality of the nervous system	617	BCS1L	OMIM:124000
HP:0000707	Abnormality of the nervous system	113246	C12orf57	OMIM:218340
HP:0000707	Abnormality of the nervous system	259266	ASPM	OMIM:608716
HP:0000707	Abnormality of the nervous system	652	BMP4	ORPHA:139471
HP:0000707	Abnormality of the nervous system	8192	CLPP	OMIM:614129
HP:0000707	Abnormality of the nervous system	85378	TUBGCP6	ORPHA:2518
HP:0000707	Abnormality of the nervous system	85378	TUBGCP6	OMIM:251270
HP:0000707	Abnormality of the nervous system	27229	TUBGCP4	ORPHA:2518
HP:0000707	Abnormality of the nervous system	9939	RBM8A	OMIM:274000
HP:0000707	Abnormality of the nervous system	22930	RAB3GAP1	ORPHA:2510
HP:0000707	Abnormality of the nervous system	25782	RAB3GAP2	ORPHA:2510
HP:0000707	Abnormality of the nervous system	22931	RAB18	ORPHA:2510
HP:0000707	Abnormality of the nervous system	9451	EIF2AK3	ORPHA:1667
HP:0000707	Abnormality of the nervous system	11141	IL1RAPL1	OMIM:300143
HP:0000707	Abnormality of the nervous system	23309	SIN3B	ORPHA:500166
HP:0000707	Abnormality of the nervous system	8884	SLC5A6	OMIM:618973
HP:0000707	Abnormality of the nervous system	55367	PIDD1	OMIM:619827
HP:0000707	Abnormality of the nervous system	84148	KAT8	OMIM:618974
HP:0000707	Abnormality of the nervous system	5274	SERPINI1	OMIM:604218
HP:0000707	Abnormality of the nervous system	29899	GPSM2	OMIM:604213
HP:0000707	Abnormality of the nervous system	23141	ANKLE2	OMIM:616681
HP:0000707	Abnormality of the nervous system	104	ADARB1	OMIM:618862
HP:0000707	Abnormality of the nervous system	50651	SLC45A1	OMIM:617532
HP:0000707	Abnormality of the nervous system	57468	SLC12A5	OMIM:616685
HP:0000707	Abnormality of the nervous system	57468	SLC12A5	OMIM:616645
HP:0000707	Abnormality of the nervous system	5723	PSPH	OMIM:614023
HP:0000707	Abnormality of the nervous system	8518	ELP1	ORPHA:1764
HP:0000707	Abnormality of the nervous system	60684	TRAPPC11	OMIM:615356
HP:0000707	Abnormality of the nervous system	60684	TRAPPC11	ORPHA:369847
HP:0000707	Abnormality of the nervous system	10973	ASCC3	OMIM:620700
HP:0000707	Abnormality of the nervous system	347733	TUBB2B	ORPHA:1766
HP:0000707	Abnormality of the nervous system	347733	TUBB2B	ORPHA:300573
HP:0000707	Abnormality of the nervous system	347733	TUBB2B	OMIM:610031
HP:0000707	Abnormality of the nervous system	124997	WDR81	ORPHA:1766
HP:0000707	Abnormality of the nervous system	51761	ATP8A2	ORPHA:1766
HP:0000707	Abnormality of the nervous system	767	CA8	ORPHA:1766
HP:0000707	Abnormality of the nervous system	4536	MT-ND2	ORPHA:255210
HP:0000707	Abnormality of the nervous system	4537	MT-ND3	ORPHA:255210
HP:0000707	Abnormality of the nervous system	4577	MT-TV	ORPHA:255210
HP:0000707	Abnormality of the nervous system	3158	HMGCS2	ORPHA:35701
HP:0000707	Abnormality of the nervous system	3158	HMGCS2	OMIM:605911
HP:0000707	Abnormality of the nervous system	116931	MED12L	OMIM:618872
HP:0000707	Abnormality of the nervous system	249	ALPL	OMIM:241500
HP:0000707	Abnormality of the nervous system	249	ALPL	OMIM:241510
HP:0000707	Abnormality of the nervous system	3020	H3-3A	OMIM:619720
HP:0000707	Abnormality of the nervous system	8722	CTSF	OMIM:615362
HP:0000707	Abnormality of the nervous system	1644	DDC	ORPHA:35708
HP:0000707	Abnormality of the nervous system	10026	PIGK	OMIM:618879
HP:0000707	Abnormality of the nervous system	64218	SEMA4A	ORPHA:440437
HP:0000707	Abnormality of the nervous system	657	BMPR1A	ORPHA:440437
HP:0000707	Abnormality of the nervous system	6224	RPS20	ORPHA:440437
HP:0000707	Abnormality of the nervous system	4595	MUTYH	ORPHA:440437
HP:0000707	Abnormality of the nervous system	5424	POLD1	ORPHA:440437
HP:0000707	Abnormality of the nervous system	11200	CHEK2	ORPHA:440437
HP:0000707	Abnormality of the nervous system	375387	NRROS	OMIM:618875
HP:0000707	Abnormality of the nervous system	10501	SEMA6B	OMIM:618876
HP:0000707	Abnormality of the nervous system	5610	EIF2AK2	OMIM:618877
HP:0000707	Abnormality of the nervous system	10381	TUBB3	OMIM:614039
HP:0000707	Abnormality of the nervous system	10381	TUBB3	ORPHA:300570
HP:0000707	Abnormality of the nervous system	140803	TRPM6	OMIM:602014
HP:0000707	Abnormality of the nervous system	2590	GALNT2	OMIM:618885
HP:0000707	Abnormality of the nervous system	9692	PRORP	OMIM:619737
HP:0000707	Abnormality of the nervous system	6773	STAT2	OMIM:618886
HP:0000707	Abnormality of the nervous system	51319	RSRC1	OMIM:618402
HP:0000707	Abnormality of the nervous system	8560	DEGS1	OMIM:618404
HP:0000707	Abnormality of the nervous system	7020	TFAP2A	OMIM:113620
HP:0000707	Abnormality of the nervous system	8726	EED	OMIM:617561
HP:0000707	Abnormality of the nervous system	84504	NKX6-2	OMIM:617560
HP:0000707	Abnormality of the nervous system	84504	NKX6-2	ORPHA:527497
HP:0000707	Abnormality of the nervous system	4297	KMT2A	ORPHA:319182
HP:0000707	Abnormality of the nervous system	4297	KMT2A	OMIM:605130
HP:0000707	Abnormality of the nervous system	833	CARS1	OMIM:618891
HP:0000707	Abnormality of the nervous system	284439	SLC25A42	OMIM:618416
HP:0000707	Abnormality of the nervous system	79600	TCTN1	ORPHA:475
HP:0000707	Abnormality of the nervous system	200894	ARL13B	ORPHA:475
HP:0000707	Abnormality of the nervous system	9731	CEP104	ORPHA:475
HP:0000707	Abnormality of the nervous system	219844	HYLS1	ORPHA:475
HP:0000707	Abnormality of the nervous system	23247	KATNIP	ORPHA:475
HP:0000707	Abnormality of the nervous system	219854	TMEM218	ORPHA:475
HP:0000707	Abnormality of the nervous system	9786	KIAA0586	ORPHA:475
HP:0000707	Abnormality of the nervous system	79867	TCTN2	ORPHA:475
HP:0000707	Abnormality of the nervous system	10464	PIBF1	ORPHA:475
HP:0000707	Abnormality of the nervous system	23116	TOGARAM1	ORPHA:475
HP:0000707	Abnormality of the nervous system	25776	CBY1	ORPHA:475
HP:0000707	Abnormality of the nervous system	27077	B9D1	ORPHA:475
HP:0000707	Abnormality of the nervous system	403	ARL3	ORPHA:475
HP:0000707	Abnormality of the nervous system	339983	NAT8L	OMIM:614063
HP:0000707	Abnormality of the nervous system	8879	SGPL1	OMIM:617575
HP:0000707	Abnormality of the nervous system	51604	PIGT	OMIM:615398
HP:0000707	Abnormality of the nervous system	57282	SLC4A10	OMIM:620746
HP:0000707	Abnormality of the nervous system	391356	PTRHD1	OMIM:620747
HP:0000707	Abnormality of the nervous system	8021	NUP214	OMIM:618426
HP:0000707	Abnormality of the nervous system	2643	GCH1	OMIM:233910
HP:0000707	Abnormality of the nervous system	8364	H4C3	OMIM:619758
HP:0000707	Abnormality of the nervous system	8733	GPAA1	ORPHA:529665
HP:0000707	Abnormality of the nervous system	27086	FOXP1	ORPHA:391372
HP:0000707	Abnormality of the nervous system	6942	TCF20	OMIM:618430
HP:0000707	Abnormality of the nervous system	51341	ZBTB7A	OMIM:619769
HP:0000707	Abnormality of the nervous system	7841	MOGS	ORPHA:79330
HP:0000707	Abnormality of the nervous system	7841	MOGS	OMIM:606056
HP:0000707	Abnormality of the nervous system	9338	TCEAL1	OMIM:301094
HP:0000707	Abnormality of the nervous system	540	ATP7B	OMIM:277900
HP:0000707	Abnormality of the nervous system	540	ATP7B	ORPHA:905
HP:0000707	Abnormality of the nervous system	7030	TFE3	OMIM:301066
HP:0000707	Abnormality of the nervous system	51651	PTRH2	OMIM:616263
HP:0000707	Abnormality of the nervous system	54941	RNF125	OMIM:616260
HP:0000707	Abnormality of the nervous system	8131	NPRL3	OMIM:617118
HP:0000707	Abnormality of the nervous system	10641	NPRL2	OMIM:617116
HP:0000707	Abnormality of the nervous system	10195	ALG3	ORPHA:79321
HP:0000707	Abnormality of the nervous system	10195	ALG3	OMIM:601110
HP:0000707	Abnormality of the nervous system	79087	ALG12	ORPHA:79324
HP:0000707	Abnormality of the nervous system	9896	FIG4	ORPHA:208441
HP:0000707	Abnormality of the nervous system	8295	TRRAP	OMIM:618454
HP:0000707	Abnormality of the nervous system	3658	IREB2	OMIM:618451
HP:0000707	Abnormality of the nervous system	221078	NSUN6	OMIM:620779
HP:0000707	Abnormality of the nervous system	55770	EXOC2	OMIM:619306
HP:0000707	Abnormality of the nervous system	27145	FILIP1	OMIM:620775
HP:0000707	Abnormality of the nervous system	1801	DPH1	ORPHA:459061
HP:0000707	Abnormality of the nervous system	1802	DPH2	ORPHA:459061
HP:0000707	Abnormality of the nervous system	10371	SEMA3A	ORPHA:478
HP:0000707	Abnormality of the nervous system	81848	SPRY4	ORPHA:478
HP:0000707	Abnormality of the nervous system	23767	FLRT3	ORPHA:478
HP:0000707	Abnormality of the nervous system	79625	NDNF	ORPHA:478
HP:0000707	Abnormality of the nervous system	389549	FEZF1	ORPHA:478
HP:0000707	Abnormality of the nervous system	3730	ANOS1	ORPHA:478
HP:0000707	Abnormality of the nervous system	54756	IL17RD	ORPHA:478
HP:0000707	Abnormality of the nervous system	285025	CCDC141	ORPHA:478
HP:0000707	Abnormality of the nervous system	55636	CHD7	ORPHA:478
HP:0000707	Abnormality of the nervous system	1848	DUSP6	ORPHA:478
HP:0000707	Abnormality of the nervous system	6870	TACR3	ORPHA:478
HP:0000707	Abnormality of the nervous system	9394	HS6ST1	ORPHA:478
HP:0000707	Abnormality of the nervous system	8822	FGF17	ORPHA:478
HP:0000707	Abnormality of the nervous system	84706	GPT2	OMIM:616281
HP:0000707	Abnormality of the nervous system	84706	GPT2	ORPHA:477673
HP:0000707	Abnormality of the nervous system	5898	RALA	OMIM:619311
HP:0000707	Abnormality of the nervous system	1317	SLC31A1	OMIM:620306
HP:0000707	Abnormality of the nervous system	85476	GFM1	OMIM:609060
HP:0000707	Abnormality of the nervous system	2355	FOSL2	OMIM:620789
HP:0000707	Abnormality of the nervous system	79903	NAA60	OMIM:620786
HP:0000707	Abnormality of the nervous system	11267	SNF8	OMIM:620784
HP:0000707	Abnormality of the nervous system	11267	SNF8	OMIM:620783
HP:0000707	Abnormality of the nervous system	84320	ACBD6	OMIM:620785
HP:0000707	Abnormality of the nervous system	10102	TSFM	OMIM:610505
HP:0000707	Abnormality of the nervous system	256297	PTF1A	OMIM:609069
HP:0000707	Abnormality of the nervous system	22854	NTNG1	ORPHA:3095
HP:0000707	Abnormality of the nervous system	23102	TBC1D2B	OMIM:619323
HP:0000707	Abnormality of the nervous system	29998	BICRA	OMIM:619325
HP:0000707	Abnormality of the nervous system	6651	SON	OMIM:617140
HP:0000707	Abnormality of the nervous system	23030	KDM4B	OMIM:619320
HP:0000707	Abnormality of the nervous system	7453	WARS1	OMIM:620317
HP:0000707	Abnormality of the nervous system	29968	PSAT1	OMIM:610992
HP:0000707	Abnormality of the nervous system	29968	PSAT1	ORPHA:284417
HP:0000707	Abnormality of the nervous system	157922	CAMSAP1	OMIM:620316
HP:0000707	Abnormality of the nervous system	8891	EIF2B3	OMIM:620313
HP:0000707	Abnormality of the nervous system	5698	PSMB9	OMIM:620796
HP:0000707	Abnormality of the nervous system	6263	RYR3	OMIM:620310
HP:0000707	Abnormality of the nervous system	10166	SLC25A15	ORPHA:415
HP:0000707	Abnormality of the nervous system	84892	POMGNT2	ORPHA:899
HP:0000707	Abnormality of the nervous system	10329	RXYLT1	ORPHA:899
HP:0000707	Abnormality of the nervous system	1605	DAG1	ORPHA:899
HP:0000707	Abnormality of the nervous system	4942	OAT	ORPHA:414
HP:0000707	Abnormality of the nervous system	1725	DHPS	OMIM:618480
HP:0000707	Abnormality of the nervous system	28982	FLVCR1	ORPHA:88628
HP:0000707	Abnormality of the nervous system	4621	MYH3	OMIM:193700
HP:0000707	Abnormality of the nervous system	2560	GABRB1	OMIM:617153
HP:0000707	Abnormality of the nervous system	23221	RHOBTB2	OMIM:618004
HP:0000707	Abnormality of the nervous system	2530	FUT8	OMIM:618005
HP:0000707	Abnormality of the nervous system	34	ACADM	OMIM:201450
HP:0000707	Abnormality of the nervous system	7965	AIMP2	OMIM:618006
HP:0000707	Abnormality of the nervous system	10157	AASS	OMIM:238700
HP:0000707	Abnormality of the nervous system	10157	AASS	ORPHA:3124
HP:0000707	Abnormality of the nervous system	10157	AASS	ORPHA:2203
HP:0000707	Abnormality of the nervous system	1781	DYNC1I2	OMIM:618492
HP:0000707	Abnormality of the nervous system	372	ARCN1	OMIM:617164
HP:0000707	Abnormality of the nervous system	3977	LIFR	OMIM:601559
HP:0000707	Abnormality of the nervous system	5283	PIGH	OMIM:618010
HP:0000707	Abnormality of the nervous system	5144	PDE4D	ORPHA:439822
HP:0000707	Abnormality of the nervous system	84668	HYCC1	OMIM:610532
HP:0000707	Abnormality of the nervous system	1938	EEF2	ORPHA:101112
HP:0000707	Abnormality of the nervous system	35	ACADS	OMIM:201470
HP:0000707	Abnormality of the nervous system	35	ACADS	ORPHA:26792
HP:0000707	Abnormality of the nervous system	145173	B3GLCT	OMIM:261540
HP:0000707	Abnormality of the nervous system	128240	NAXE	OMIM:617186
HP:0000707	Abnormality of the nervous system	3198	HOXA1	OMIM:601536
HP:0000707	Abnormality of the nervous system	79143	MBOAT7	OMIM:617188
HP:0000707	Abnormality of the nervous system	539	ATP5PO	OMIM:620359
HP:0000707	Abnormality of the nervous system	55252	ASXL2	OMIM:617190
HP:0000707	Abnormality of the nervous system	1650	DDOST	ORPHA:300536
HP:0000707	Abnormality of the nervous system	6904	TBCD	OMIM:617193
HP:0000707	Abnormality of the nervous system	51371	POMP	OMIM:618048
HP:0000707	Abnormality of the nervous system	2733	GLE1	OMIM:611890
HP:0000707	Abnormality of the nervous system	55005	RMND1	OMIM:614922
HP:0000707	Abnormality of the nervous system	3295	HSD17B4	OMIM:261515
HP:0000707	Abnormality of the nervous system	10295	BCKDK	OMIM:614923
HP:0000707	Abnormality of the nervous system	124454	EARS2	OMIM:614924
HP:0000707	Abnormality of the nervous system	55074	OXR1	OMIM:213000
HP:0000707	Abnormality of the nervous system	11011	TLK2	OMIM:618050
HP:0000707	Abnormality of the nervous system	23040	MYT1L	ORPHA:647799
HP:0000707	Abnormality of the nervous system	27072	VPS41	OMIM:619389
HP:0000707	Abnormality of the nervous system	9054	NFS1	OMIM:619386
HP:0000707	Abnormality of the nervous system	221927	BRAT1	OMIM:618056
HP:0000707	Abnormality of the nervous system	267	AMFR	OMIM:620379
HP:0000707	Abnormality of the nervous system	161742	SPRED1	ORPHA:137605
HP:0000707	Abnormality of the nervous system	90952	ESAM	OMIM:620371
HP:0000707	Abnormality of the nervous system	11113	CIT	OMIM:617090
HP:0000707	Abnormality of the nervous system	4702	NDUFA8	OMIM:619272
HP:0000707	Abnormality of the nervous system	27183	VPS4A	OMIM:619273
HP:0000707	Abnormality of the nervous system	10128	LRPPRC	OMIM:220111
HP:0000707	Abnormality of the nervous system	10128	LRPPRC	ORPHA:70472
HP:0000707	Abnormality of the nervous system	4570	MT-TN	OMIM:220110
HP:0000707	Abnormality of the nervous system	6834	SURF1	OMIM:220110
HP:0000707	Abnormality of the nervous system	132158	GLYCTK	ORPHA:941
HP:0000707	Abnormality of the nervous system	132158	GLYCTK	OMIM:220120
HP:0000707	Abnormality of the nervous system	9442	MED27	OMIM:619286
HP:0000707	Abnormality of the nervous system	64601	VPS16	OMIM:619291
HP:0000707	Abnormality of the nervous system	7084	TK2	OMIM:609560
HP:0000707	Abnormality of the nervous system	22897	CEP164	OMIM:614845
HP:0000707	Abnormality of the nervous system	36	ACADSB	OMIM:610006
HP:0000707	Abnormality of the nervous system	7276	TTR	OMIM:105210
HP:0000707	Abnormality of the nervous system	5095	PCCA	OMIM:606054
HP:0000707	Abnormality of the nervous system	5096	PCCB	OMIM:606054
HP:0000707	Abnormality of the nervous system	26523	AGO1	OMIM:620292
HP:0000707	Abnormality of the nervous system	776	CACNA1D	ORPHA:369929
HP:0000707	Abnormality of the nervous system	51199	NIN	OMIM:614851
HP:0000707	Abnormality of the nervous system	51199	NIN	ORPHA:319675
HP:0000707	Abnormality of the nervous system	65998	ZFTA	ORPHA:251636
HP:0000707	Abnormality of the nervous system	22995	CEP152	OMIM:614852
HP:0000707	Abnormality of the nervous system	4338	MOCS2	OMIM:252160
HP:0000707	Abnormality of the nervous system	2752	GLUL	OMIM:610015
HP:0000707	Abnormality of the nervous system	9255	AIMP1	OMIM:260600
HP:0000707	Abnormality of the nervous system	11340	EXOSC8	ORPHA:2254
HP:0000707	Abnormality of the nervous system	23287	AGTPBP1	ORPHA:2254
HP:0000707	Abnormality of the nervous system	7443	VRK1	ORPHA:2254
HP:0000707	Abnormality of the nervous system	91137	SLC25A46	ORPHA:2254
HP:0000707	Abnormality of the nervous system	5297	PI4KA	ORPHA:98889
HP:0000707	Abnormality of the nervous system	5297	PI4KA	OMIM:619708
HP:0000707	Abnormality of the nervous system	3115	HLA-DPB1	ORPHA:900
HP:0000707	Abnormality of the nervous system	5657	PRTN3	ORPHA:900
HP:0000707	Abnormality of the nervous system	3113	HLA-DPA1	ORPHA:900
HP:0000707	Abnormality of the nervous system	728294	D2HGDH	OMIM:600721
HP:0000707	Abnormality of the nervous system	9095	TBX19	OMIM:201400
HP:0000707	Abnormality of the nervous system	10165	SLC25A13	ORPHA:247585
HP:0000707	Abnormality of the nervous system	50628	GEMIN4	OMIM:617913
HP:0000707	Abnormality of the nervous system	51574	LARP7	ORPHA:319671
HP:0000707	Abnormality of the nervous system	3329	HSPD1	OMIM:612233
HP:0000707	Abnormality of the nervous system	7507	XPA	ORPHA:910
HP:0000707	Abnormality of the nervous system	2071	ERCC3	ORPHA:910
HP:0000707	Abnormality of the nervous system	7508	XPC	ORPHA:910
HP:0000707	Abnormality of the nervous system	1643	DDB2	ORPHA:910
HP:0000707	Abnormality of the nervous system	9698	PUM1	OMIM:617931
HP:0000707	Abnormality of the nervous system	100151683	RNU4ATAC	OMIM:210710
HP:0000707	Abnormality of the nervous system	100151683	RNU4ATAC	ORPHA:2636
HP:0000707	Abnormality of the nervous system	53616	ADAM22	OMIM:617933
HP:0000707	Abnormality of the nervous system	27249	MMADHC	OMIM:277410
HP:0000707	Abnormality of the nervous system	27249	MMADHC	ORPHA:79283
HP:0000707	Abnormality of the nervous system	55187	VPS13D	OMIM:607317
HP:0000707	Abnormality of the nervous system	7280	TUBB2A	OMIM:615763
HP:0000707	Abnormality of the nervous system	4953	ODC1	ORPHA:544488
HP:0000707	Abnormality of the nervous system	9512	PMPCB	OMIM:617954
HP:0000707	Abnormality of the nervous system	2058	EPRS1	OMIM:617951
HP:0000707	Abnormality of the nervous system	6335	SCN9A	ORPHA:46348
HP:0000707	Abnormality of the nervous system	11280	SCN11A	ORPHA:46348
HP:0000707	Abnormality of the nervous system	20	ABCA2	OMIM:618808
HP:0000707	Abnormality of the nervous system	54664	TMEM106B	OMIM:617964
HP:0000707	Abnormality of the nervous system	84818	IL17RC	ORPHA:1334
HP:0000707	Abnormality of the nervous system	64581	CLEC7A	ORPHA:1334
HP:0000707	Abnormality of the nervous system	23765	IL17RA	ORPHA:1334
HP:0000707	Abnormality of the nervous system	10758	TRAF3IP2	ORPHA:1334
HP:0000707	Abnormality of the nervous system	112744	IL17F	ORPHA:1334
HP:0000707	Abnormality of the nervous system	190	NR0B1	ORPHA:95702
HP:0000707	Abnormality of the nervous system	6785	ELOVL4	OMIM:614457
HP:0000707	Abnormality of the nervous system	27010	TPK1	OMIM:614458
HP:0000707	Abnormality of the nervous system	54658	UGT1A1	ORPHA:79234
HP:0000707	Abnormality of the nervous system	2584	GALK1	ORPHA:79237
HP:0000707	Abnormality of the nervous system	11019	LIAS	OMIM:614462
HP:0000707	Abnormality of the nervous system	4337	MOCS1	OMIM:252150
HP:0000707	Abnormality of the nervous system	3704	ITPA	OMIM:616647
HP:0000707	Abnormality of the nervous system	56270	WDR45B	OMIM:617977
HP:0000707	Abnormality of the nervous system	22934	RPIA	OMIM:608611
HP:0000707	Abnormality of the nervous system	8405	SPOP	OMIM:618829
HP:0000707	Abnormality of the nervous system	5162	PDHB	ORPHA:255138
HP:0000707	Abnormality of the nervous system	23310	NCAPD3	OMIM:617984
HP:0000707	Abnormality of the nervous system	6509	SLC1A4	OMIM:616657
HP:0000707	Abnormality of the nervous system	126792	B3GALT6	ORPHA:536467
HP:0000707	Abnormality of the nervous system	529	ATP6V1E1	ORPHA:357074
HP:0000707	Abnormality of the nervous system	200205	IBA57	OMIM:615330
HP:0000707	Abnormality of the nervous system	84631	SLITRK2	OMIM:301107
HP:0000707	Abnormality of the nervous system	51780	KDM3B	OMIM:618846
HP:0000707	Abnormality of the nervous system	5116	PCNT	ORPHA:2637
HP:0000707	Abnormality of the nervous system	63929	XPNPEP3	OMIM:613159
HP:0000707	Abnormality of the nervous system	51294	PCDH12	OMIM:251280
HP:0000707	Abnormality of the nervous system	55788	LMBRD1	ORPHA:79284
HP:0000707	Abnormality of the nervous system	57731	SPTBN4	OMIM:617519
HP:0000707	Abnormality of the nervous system	1807	DPYS	OMIM:222748
HP:0000707	Abnormality of the nervous system	9130	FAM50A	OMIM:300261
HP:0000707	Abnormality of the nervous system	51733	UPB1	OMIM:613161
HP:0000707	Abnormality of the nervous system	18	ABAT	OMIM:613163
HP:0000707	Abnormality of the nervous system	7543	ZFX	OMIM:301118
HP:0000707	Abnormality of the nervous system	8738	CRADD	OMIM:614499
HP:0000707	Abnormality of the nervous system	4858	NOVA2	OMIM:618859
HP:0000707	Abnormality of the nervous system	22868	FASTKD2	OMIM:618855
HP:0000707	Abnormality of the nervous system	1371	CPOX	ORPHA:79273
HP:0000707	Abnormality of the nervous system	5052	PRDX1	OMIM:277400
HP:0000707	Abnormality of the nervous system	55901	THSD1	ORPHA:231160
HP:0000707	Abnormality of the nervous system	7049	TGFBR3	ORPHA:231160
HP:0000707	Abnormality of the nervous system	83854	ANGPTL6	ORPHA:231160
HP:0000707	Abnormality of the nervous system	5994	RFXAP	OMIM:620817
HP:0000707	Abnormality of the nervous system	64849	SLC13A3	OMIM:618384
HP:0000707	Abnormality of the nervous system	26146	TRAF3IP1	ORPHA:3156
HP:0000707	Abnormality of the nervous system	27130	INVS	ORPHA:3156
HP:0000707	Abnormality of the nervous system	261734	NPHP4	ORPHA:3156
HP:0000707	Abnormality of the nervous system	57728	WDR19	ORPHA:3156
HP:0000707	Abnormality of the nervous system	27031	NPHP3	ORPHA:3156
HP:0000707	Abnormality of the nervous system	2038	EPB42	ORPHA:822
HP:0000707	Abnormality of the nervous system	6521	SLC4A1	ORPHA:822
HP:0000707	Abnormality of the nervous system	6710	SPTB	ORPHA:822
HP:0000707	Abnormality of the nervous system	6708	SPTA1	ORPHA:822
HP:0000707	Abnormality of the nervous system	131669	UROC1	OMIM:276880
HP:0000707	Abnormality of the nervous system	131669	UROC1	ORPHA:210128
HP:0000707	Abnormality of the nervous system	9699	RIMS2	OMIM:618970
HP:0000707	Abnormality of the nervous system	8309	ACOX2	OMIM:617308
HP:0000707	Abnormality of the nervous system	9474	ATG5	OMIM:617584
HP:0000707	Abnormality of the nervous system	29893	PSMC3IP	ORPHA:243
HP:0000707	Abnormality of the nervous system	171568	POLR3H	ORPHA:243
HP:0000707	Abnormality of the nervous system	2516	NR5A1	ORPHA:243
HP:0000707	Abnormality of the nervous system	125150	ZSWIM7	ORPHA:243
HP:0000707	Abnormality of the nervous system	9210	BMP15	ORPHA:243
HP:0000707	Abnormality of the nervous system	23514	SPIDR	ORPHA:243
HP:0000707	Abnormality of the nervous system	2492	FSHR	ORPHA:243
HP:0000707	Abnormality of the nervous system	646	BNC1	ORPHA:243
HP:0000707	Abnormality of the nervous system	4438	MSH4	ORPHA:243
HP:0000707	Abnormality of the nervous system	6548	SLC9A1	OMIM:616291
HP:0000707	Abnormality of the nervous system	25929	GEMIN5	OMIM:619333
HP:0000707	Abnormality of the nervous system	7399	USH2A	ORPHA:231178
HP:0000707	Abnormality of the nervous system	79955	PDZD7	ORPHA:231178
HP:0000707	Abnormality of the nervous system	25861	WHRN	ORPHA:231178
HP:0000707	Abnormality of the nervous system	26576	SRPK3	OMIM:301134
HP:0000707	Abnormality of the nervous system	7401	CLRN1	ORPHA:231183
HP:0000707	Abnormality of the nervous system	22901	ARSG	ORPHA:231183
HP:0000707	Abnormality of the nervous system	84131	CEP78	ORPHA:231183
HP:0000707	Abnormality of the nervous system	148738	HJV	OMIM:602390
HP:0000707	Abnormality of the nervous system	148738	HJV	ORPHA:79230
HP:0000707	Abnormality of the nervous system	55065	SLC52A1	OMIM:615026
HP:0000707	Abnormality of the nervous system	1591	CYP24A1	OMIM:143880
HP:0000707	Abnormality of the nervous system	3875	KRT18	OMIM:215600
HP:0000707	Abnormality of the nervous system	7019	TFAM	OMIM:617156
HP:0000707	Abnormality of the nervous system	57817	HAMP	ORPHA:79230
HP:0000707	Abnormality of the nervous system	54796	BNC2	ORPHA:93110
HP:0000707	Abnormality of the nervous system	3764	KCNJ8	ORPHA:1517
HP:0000707	Abnormality of the nervous system	80153	EDC3	OMIM:616460
HP:0000707	Abnormality of the nervous system	6884	TAF13	OMIM:617432
HP:0000707	Abnormality of the nervous system	81794	ADAMTS10	OMIM:277600
HP:0000707	Abnormality of the nervous system	81794	ADAMTS10	ORPHA:3449
HP:0000707	Abnormality of the nervous system	178	AGL	ORPHA:366
HP:0000707	Abnormality of the nervous system	5908	RAP1B	OMIM:620654
HP:0000707	Abnormality of the nervous system	4568	MT-TL2	ORPHA:663
HP:0000707	Abnormality of the nervous system	3714	JAG2	OMIM:619566
HP:0000707	Abnormality of the nervous system	23524	SRRM2	OMIM:620439
HP:0000707	Abnormality of the nervous system	51473	DCDC2	OMIM:617394
HP:0000707	Abnormality of the nervous system	55213	RCBTB1	OMIM:617175
HP:0000707	Abnormality of the nervous system	29957	SLC25A24	ORPHA:2095
HP:0000707	Abnormality of the nervous system	84905	ZNF341	OMIM:618282
HP:0000707	Abnormality of the nervous system	23554	TSPAN12	ORPHA:891
HP:0000707	Abnormality of the nervous system	79797	ZNF408	ORPHA:891
HP:0000707	Abnormality of the nervous system	8322	FZD4	ORPHA:891
HP:0000707	Abnormality of the nervous system	375056	MIA3	OMIM:619269
HP:0000707	Abnormality of the nervous system	6499	SKIC2	ORPHA:84064
HP:0000707	Abnormality of the nervous system	9382	COG1	ORPHA:263508
HP:0000707	Abnormality of the nervous system	8546	AP3B1	OMIM:608233
HP:0000707	Abnormality of the nervous system	4591	TRIM37	OMIM:253250
HP:0000707	Abnormality of the nervous system	10984	KCNQ1OT1	ORPHA:2128
HP:0000707	Abnormality of the nervous system	170691	ADAMTS17	ORPHA:3449
HP:0000707	Abnormality of the nervous system	4053	LTBP2	ORPHA:3449
HP:0000707	Abnormality of the nervous system	6307	MSMO1	OMIM:616834
HP:0000707	Abnormality of the nervous system	10290	SPEG	ORPHA:169186
HP:0000707	Abnormality of the nervous system	169792	GLIS3	OMIM:610199
HP:0000707	Abnormality of the nervous system	2122	MECOM	OMIM:616738
HP:0000707	Abnormality of the nervous system	29980	DONSON	OMIM:617604
HP:0000707	Abnormality of the nervous system	23404	EXOSC2	OMIM:617763
HP:0000707	Abnormality of the nervous system	1478	CSTF2	OMIM:301116
HP:0000707	Abnormality of the nervous system	6736	SRY	ORPHA:1772
HP:0000707	Abnormality of the nervous system	253959	RALGAPA1	OMIM:618797
HP:0000707	Abnormality of the nervous system	8890	EIF2B4	OMIM:620314
HP:0000707	Abnormality of the nervous system	8892	EIF2B2	OMIM:620312
HP:0000707	Abnormality of the nervous system	10092	ARPC5	OMIM:620565
HP:0000707	Abnormality of the nervous system	27107	ZBTB11	OMIM:618383
HP:0000707	Abnormality of the nervous system	9445	ITM2B	OMIM:117300
HP:0000707	Abnormality of the nervous system	9445	ITM2B	OMIM:176500
HP:0000707	Abnormality of the nervous system	84693	MCEE	OMIM:251120
HP:0000707	Abnormality of the nervous system	10844	TUBGCP2	OMIM:618737
HP:0000707	Abnormality of the nervous system	8893	EIF2B5	OMIM:620315
HP:0000707	Abnormality of the nervous system	326625	MMAB	OMIM:251110
HP:0000707	Abnormality of the nervous system	10068	IL18BP	OMIM:618549
HP:0000707	Abnormality of the nervous system	4927	NUP88	ORPHA:994
HP:0000707	Abnormality of the nervous system	4654	MYOD1	ORPHA:994
HP:0000707	Abnormality of the nervous system	2671	GFER	OMIM:613076
HP:0000707	Abnormality of the nervous system	2671	GFER	ORPHA:330054
HP:0000707	Abnormality of the nervous system	54345	SOX18	OMIM:137940
HP:0000707	Abnormality of the nervous system	5034	P4HB	OMIM:112240
HP:0000707	Abnormality of the nervous system	5034	P4HB	ORPHA:2050
HP:0000707	Abnormality of the nervous system	11311	VPS45	OMIM:615285
HP:0000707	Abnormality of the nervous system	55072	RNF31	OMIM:620632
HP:0000707	Abnormality of the nervous system	6603	SMARCD2	OMIM:617475
HP:0000707	Abnormality of the nervous system	7873	MANF	OMIM:620651
HP:0000707	Abnormality of the nervous system	4921	DDR2	OMIM:271665
HP:0000707	Abnormality of the nervous system	6888	TALDO1	ORPHA:101028
HP:0000707	Abnormality of the nervous system	7372	UMPS	ORPHA:30
HP:0000707	Abnormality of the nervous system	7372	UMPS	OMIM:258900
HP:0000707	Abnormality of the nervous system	51434	ANAPC7	OMIM:619699
HP:0000707	Abnormality of the nervous system	84068	SLC10A7	OMIM:618363
HP:0000707	Abnormality of the nervous system	7174	TPP2	OMIM:619220
HP:0000707	Abnormality of the nervous system	51729	WBP11	OMIM:619227
HP:0000707	Abnormality of the nervous system	11285	B4GALT7	ORPHA:75496
HP:0000707	Abnormality of the nervous system	31	ACACA	OMIM:613933
HP:0000707	Abnormality of the nervous system	10551	AGR2	OMIM:620233
HP:0000707	Abnormality of the nervous system	55181	SMG8	OMIM:619268
HP:0000707	Abnormality of the nervous system	168667	BMPER	OMIM:608022
HP:0000707	Abnormality of the nervous system	2294	FOXF1	OMIM:265380
HP:0000707	Abnormality of the nervous system	1272	CNTN1	OMIM:612540
HP:0000707	Abnormality of the nervous system	92579	G6PC3	OMIM:612541
HP:0000707	Abnormality of the nervous system	63894	VIPAS39	OMIM:613404
HP:0000707	Abnormality of the nervous system	1906	EDN1	ORPHA:137888
HP:0000707	Abnormality of the nervous system	5332	PLCB4	ORPHA:137888
HP:0000707	Abnormality of the nervous system	2773	GNAI3	ORPHA:137888
HP:0000707	Abnormality of the nervous system	8379	MAD1L1	OMIM:620189
HP:0000707	Abnormality of the nervous system	55719	SLF2	OMIM:620184
HP:0000707	Abnormality of the nervous system	121278	TPH2	OMIM:613003
HP:0000707	Abnormality of the nervous system	80152	CENPT	OMIM:618702
HP:0000707	Abnormality of the nervous system	10736	SIX2	ORPHA:488437
HP:0000707	Abnormality of the nervous system	3284	HSD3B2	ORPHA:90791
HP:0000707	Abnormality of the nervous system	85301	COL27A1	OMIM:615155
HP:0000707	Abnormality of the nervous system	213	ALB	OMIM:616000
HP:0000707	Abnormality of the nervous system	7385	UQCRC2	OMIM:615160
HP:0000707	Abnormality of the nervous system	6514	SLC2A2	OMIM:227810
HP:0000707	Abnormality of the nervous system	8312	AXIN1	OMIM:620558
HP:0000707	Abnormality of the nervous system	4705	NDUFA10	OMIM:618243
HP:0000707	Abnormality of the nervous system	23384	SPECC1L	OMIM:145420
HP:0000707	Abnormality of the nervous system	2683	B4GALT1	OMIM:607091
HP:0000707	Abnormality of the nervous system	23405	DICER1	OMIM:618272
HP:0000707	Abnormality of the nervous system	90416	CCDC32	OMIM:619123
HP:0000707	Abnormality of the nervous system	1795	DOCK3	OMIM:618292
HP:0000707	Abnormality of the nervous system	54938	SARS2	OMIM:613845
HP:0000707	Abnormality of the nervous system	9871	SEC24D	ORPHA:2050
HP:0000707	Abnormality of the nervous system	9871	SEC24D	OMIM:616294
HP:0000707	Abnormality of the nervous system	147007	TMEM199	OMIM:616829
HP:0000707	Abnormality of the nervous system	51025	PAM16	OMIM:613320
HP:0000707	Abnormality of the nervous system	1828	DSG1	OMIM:615508
HP:0000707	Abnormality of the nervous system	865	CBFB	OMIM:620099
HP:0000707	Abnormality of the nervous system	3313	HSPA9	OMIM:616854
HP:0000707	Abnormality of the nervous system	83737	ITCH	OMIM:613385
HP:0000707	Abnormality of the nervous system	83737	ITCH	ORPHA:228426
HP:0000707	Abnormality of the nervous system	24142	NAA80	OMIM:620830
HP:0000707	Abnormality of the nervous system	26258	BLOC1S6	OMIM:614171
HP:0000707	Abnormality of the nervous system	55151	TMEM38B	OMIM:615066
HP:0000707	Abnormality of the nervous system	6809	STX3	OMIM:619446
HP:0000707	Abnormality of the nervous system	6809	STX3	ORPHA:2290
HP:0000707	Abnormality of the nervous system	56975	FAM20C	OMIM:259775
HP:0000707	Abnormality of the nervous system	9734	HDAC9	OMIM:620457
HP:0000707	Abnormality of the nervous system	3988	LIPA	ORPHA:75233
HP:0000707	Abnormality of the nervous system	2193	FARSA	OMIM:619013
HP:0000707	Abnormality of the nervous system	26276	VPS33B	OMIM:620009
HP:0000707	Abnormality of the nervous system	26276	VPS33B	OMIM:208085
HP:0000707	Abnormality of the nervous system	3110	MNX1	OMIM:176450
HP:0000707	Abnormality of the nervous system	11151	CORO1A	OMIM:615401
HP:0000707	Abnormality of the nervous system	79576	NKAP	OMIM:301039
HP:0000707	Abnormality of the nervous system	8985	PLOD3	OMIM:612394
HP:0000707	Abnormality of the nervous system	25	ABL1	OMIM:617602
HP:0000707	Abnormality of the nervous system	11222	MRPL3	OMIM:614582
HP:0000707	Abnormality of the nervous system	60528	ELAC2	OMIM:615440
HP:0000707	Abnormality of the nervous system	115286	SLC25A26	OMIM:616794
HP:0000707	Abnormality of the nervous system	8625	RFXANK	OMIM:620815
HP:0000707	Abnormality of the nervous system	3021	H3-3B	OMIM:619721
HP:0000707	Abnormality of the nervous system	3162	HMOX1	OMIM:614034
HP:0000707	Abnormality of the nervous system	4056	LTC4S	OMIM:614037
HP:0000707	Abnormality of the nervous system	79639	TMEM53	OMIM:619727
HP:0000707	Abnormality of the nervous system	6440	SFTPC	OMIM:610913
HP:0000707	Abnormality of the nervous system	64175	P3H1	OMIM:610915
HP:0000707	Abnormality of the nervous system	79803	HPS6	OMIM:614075
HP:0000707	Abnormality of the nervous system	51013	EXOSC1	OMIM:619304
HP:0000707	Abnormality of the nervous system	6650	CAPN15	OMIM:619318
HP:0000707	Abnormality of the nervous system	10073	SNUPN	OMIM:620793
HP:0000707	Abnormality of the nervous system	84701	COX4I2	OMIM:612714
HP:0000707	Abnormality of the nervous system	55898	UNC45A	OMIM:619377
HP:0000707	Abnormality of the nervous system	5236	PGM1	OMIM:614921
HP:0000707	Abnormality of the nervous system	4645	MYO5B	ORPHA:2290
HP:0000707	Abnormality of the nervous system	347734	SLC35B2	OMIM:620269
HP:0000707	Abnormality of the nervous system	11023	VAX1	OMIM:614402
HP:0000707	Abnormality of the nervous system	4659	PPP1R12A	OMIM:618820
HP:0000707	Abnormality of the nervous system	22871	NLGN1	OMIM:618830
HP:0000707	Abnormality of the nervous system	28985	MCTS1	OMIM:301115
HP:0000707	Abnormality of the nervous system	79650	USB1	ORPHA:1775
HP:0000707	Abnormality of the nervous system	55135	WRAP53	ORPHA:1775
HP:0000707	Abnormality of the nervous system	4869	NPM1	ORPHA:1775
HP:0000707	Abnormality of the nervous system	96459	FNIP1	OMIM:619705
HP:0000707	Abnormality of the nervous system	25871	NEPRO	OMIM:618853
HP:0000707	Abnormality of the nervous system	9987	HNRNPDL	OMIM:609115
HP:0000707	Abnormality of the nervous system	1340	COX6B1	OMIM:619051
HP:0000707	Abnormality of the nervous system	4919	ROR1	OMIM:617654
HP:0000707	Abnormality of the nervous system	1777	DNASE2	OMIM:619858
HP:0000707	Abnormality of the nervous system	7386	UQCRFS1	OMIM:618775
HP:0000707	Abnormality of the nervous system	6811	STX5	OMIM:620454
HP:0000707	Abnormality of the nervous system	3636	INPPL1	OMIM:258480
HP:0000707	Abnormality of the nervous system	3557	IL1RN	OMIM:612852
HP:0000707	Abnormality of the nervous system	27178	IL37	OMIM:619398
HP:0000707	Abnormality of the nervous system	91252	SLC39A13	OMIM:612350
HP:0000707	Abnormality of the nervous system	84700	MYO18B	OMIM:616549
HP:0000707	Abnormality of the nervous system	2201	FBN2	OMIM:121050
HP:0000707	Abnormality of the nervous system	4632	MYL1	OMIM:618414
HP:0000707	Abnormality of the nervous system	9453	GGPS1	OMIM:619518
HP:0000707	Abnormality of the nervous system	51098	IFT52	OMIM:617102
HP:0000707	Abnormality of the nervous system	30008	EFEMP2	ORPHA:90349
HP:0000707	Abnormality of the nervous system	4534	MTM1	OMIM:310400
HP:0000707	Abnormality of the nervous system	285590	SH3PXD2B	OMIM:249420
HP:0000707	Abnormality of the nervous system	11014	KDELR2	OMIM:619131
HP:0000707	Abnormality of the nervous system	100	ADA	OMIM:102700
HP:0000707	Abnormality of the nervous system	90523	MLIP	OMIM:620138
HP:0000707	Abnormality of the nervous system	5176	SERPINF1	OMIM:613982
HP:0000707	Abnormality of the nervous system	9321	TRIP11	OMIM:184260
HP:0000707	Abnormality of the nervous system	8087	FXR1	OMIM:618822
HP:0000707	Abnormality of the nervous system	8087	FXR1	OMIM:618823
HP:0000707	Abnormality of the nervous system	374462	PTPRQ	OMIM:613391
HP:0000707	Abnormality of the nervous system	166929	SGMS2	OMIM:126550
HP:0000707	Abnormality of the nervous system	26229	B3GAT3	OMIM:245600
HP:0000707	Abnormality of the nervous system	7384	UQCRC1	OMIM:619279
HP:0000707	Abnormality of the nervous system	23345	SYNE1	ORPHA:88644
HP:0000707	Abnormality of the nervous system	5702	PSMC3	OMIM:619354
HP:0000707	Abnormality of the nervous system	50846	DHH	OMIM:607080
HP:0000707	Abnormality of the nervous system	50846	DHH	ORPHA:168563
HP:0000707	Abnormality of the nervous system	10229	COQ7	OMIM:616733
HP:0000707	Abnormality of the nervous system	1910	EDNRB	OMIM:277580
HP:0000707	Abnormality of the nervous system	966	CD59	OMIM:612300
HP:0000707	Abnormality of the nervous system	567	B2M	OMIM:620659
HP:0000707	Abnormality of the nervous system	2018	EMX2	OMIM:269160
HP:0000707	Abnormality of the nervous system	55012	PPP2R3C	OMIM:618419
HP:0000707	Abnormality of the nervous system	2657	GDF1	OMIM:208530
HP:0000707	Abnormality of the nervous system	1583	CYP11A1	ORPHA:289548
HP:0000707	Abnormality of the nervous system	1583	CYP11A1	ORPHA:168558
HP:0000707	Abnormality of the nervous system	1534	CYB561	OMIM:618182
HP:0000707	Abnormality of the nervous system	1136	CHRNA3	OMIM:191800
HP:0000707	Abnormality of the nervous system	23299	BICD2	OMIM:615290
HP:0000707	Abnormality of the nervous system	1145	CHRNE	OMIM:605809
HP:0000707	Abnormality of the nervous system	91574	MTRFR	ORPHA:254930
HP:0000707	Abnormality of the nervous system	10755	GIPC1	OMIM:618940
HP:0000707	Abnormality of the nervous system	7072	TIA1	OMIM:619133
HP:0000707	Abnormality of the nervous system	56203	LMOD3	OMIM:616165
HP:0000707	Abnormality of the nervous system	9782	MATR3	OMIM:606070
HP:0000707	Abnormality of the nervous system	9782	MATR3	ORPHA:600
HP:0000707	Abnormality of the nervous system	400916	CHCHD10	OMIM:615911
HP:0000707	Abnormality of the nervous system	400916	CHCHD10	ORPHA:275872
HP:0000707	Abnormality of the nervous system	3098	HK1	OMIM:618547
HP:0000707	Abnormality of the nervous system	113278	SLC52A3	OMIM:211500
HP:0000707	Abnormality of the nervous system	113278	SLC52A3	OMIM:211530
HP:0000707	Abnormality of the nervous system	1134	CHRNA1	OMIM:608930
HP:0000707	Abnormality of the nervous system	4703	NEB	OMIM:256030
HP:0000707	Abnormality of the nervous system	2521	FUS	ORPHA:275872
HP:0000707	Abnormality of the nervous system	8878	SQSTM1	ORPHA:275872
HP:0000707	Abnormality of the nervous system	8878	SQSTM1	OMIM:616437
HP:0000707	Abnormality of the nervous system	7415	VCP	ORPHA:275872
HP:0000707	Abnormality of the nervous system	23435	TARDBP	ORPHA:275872
HP:0000707	Abnormality of the nervous system	58	ACTA1	OMIM:161800
HP:0000707	Abnormality of the nervous system	79581	SLC52A2	OMIM:614707
HP:0000707	Abnormality of the nervous system	10049	DNAJB6	OMIM:603511
HP:0000707	Abnormality of the nervous system	1674	DES	OMIM:601419
HP:0000707	Abnormality of the nervous system	7170	TPM3	OMIM:255310
HP:0000707	Abnormality of the nervous system	367	AR	OMIM:313200
HP:0000707	Abnormality of the nervous system	54822	TRPM7	OMIM:105500
HP:0000707	Abnormality of the nervous system	6310	ATXN1	OMIM:164400
HP:0000707	Abnormality of the nervous system	285489	DOK7	OMIM:254300
HP:0000707	Abnormality of the nervous system	270	AMPD1	OMIM:615511
HP:0000707	Abnormality of the nervous system	64170	CARD9	OMIM:212050
HP:0000707	Abnormality of the nervous system	596	BCL2	ORPHA:545
HP:0000707	Abnormality of the nervous system	3492	IGH	ORPHA:545
HP:0000707	Abnormality of the nervous system	604	BCL6	ORPHA:545
HP:0000707	Abnormality of the nervous system	5896	RAG1	OMIM:601457
HP:0000707	Abnormality of the nervous system	5897	RAG2	OMIM:601457
HP:0000707	Abnormality of the nervous system	58484	NLRC4	OMIM:616050
HP:0000707	Abnormality of the nervous system	3718	JAK3	OMIM:600802
HP:0000707	Abnormality of the nervous system	629	CFB	OMIM:615561
HP:0000707	Abnormality of the nervous system	3543	IGLL1	OMIM:613500
HP:0000707	Abnormality of the nervous system	3543	IGLL1	ORPHA:33110
HP:0000707	Abnormality of the nervous system	732	C8B	OMIM:613789
HP:0000707	Abnormality of the nervous system	51135	IRAK4	OMIM:607676
HP:0000707	Abnormality of the nervous system	1536	CYBB	ORPHA:379
HP:0000707	Abnormality of the nervous system	4688	NCF2	ORPHA:379
HP:0000707	Abnormality of the nervous system	1535	CYBA	ORPHA:379
HP:0000707	Abnormality of the nervous system	4689	NCF4	ORPHA:379
HP:0000707	Abnormality of the nervous system	79415	CYBC1	ORPHA:379
HP:0000707	Abnormality of the nervous system	115650	TNFRSF13C	OMIM:240500
HP:0000707	Abnormality of the nervous system	29851	ICOS	OMIM:240500
HP:0000707	Abnormality of the nervous system	930	CD19	OMIM:240500
HP:0000707	Abnormality of the nervous system	23495	TNFRSF13B	OMIM:240500
HP:0000707	Abnormality of the nervous system	7037	TFRC	OMIM:616740
HP:0000707	Abnormality of the nervous system	731	C8A	OMIM:613790
HP:0000707	Abnormality of the nervous system	57591	MRTFA	OMIM:618847
HP:0000707	Abnormality of the nervous system	10095	ARPC1B	OMIM:617718
HP:0000707	Abnormality of the nervous system	6688	SPI1	OMIM:619707
HP:0000707	Abnormality of the nervous system	6688	SPI1	ORPHA:33110
HP:0000707	Abnormality of the nervous system	6929	TCF3	ORPHA:33110
HP:0000707	Abnormality of the nervous system	7922	SLC39A7	ORPHA:33110
HP:0000707	Abnormality of the nervous system	973	CD79A	ORPHA:33110
HP:0000707	Abnormality of the nervous system	974	CD79B	ORPHA:33110
HP:0000707	Abnormality of the nervous system	3507	IGHM	ORPHA:33110
HP:0000707	Abnormality of the nervous system	29760	BLNK	ORPHA:33110
HP:0000707	Abnormality of the nervous system	56262	LRRC8A	ORPHA:33110
HP:0000707	Abnormality of the nervous system	825	CAPN3	OMIM:253600
HP:0000707	Abnormality of the nervous system	825	CAPN3	ORPHA:267
HP:0000707	Abnormality of the nervous system	825	CAPN3	OMIM:618129
HP:0000707	Abnormality of the nervous system	120227	CYP2R1	OMIM:600081
HP:0000707	Abnormality of the nervous system	120227	CYP2R1	ORPHA:289157
HP:0000707	Abnormality of the nervous system	4625	MYH7	OMIM:160500
HP:0000707	Abnormality of the nervous system	4625	MYH7	ORPHA:59135
HP:0000707	Abnormality of the nervous system	4625	MYH7	OMIM:608358
HP:0000707	Abnormality of the nervous system	6444	SGCD	OMIM:601287
HP:0000707	Abnormality of the nervous system	11107	PRDM5	OMIM:614170
HP:0000707	Abnormality of the nervous system	11107	PRDM5	ORPHA:90354
HP:0000707	Abnormality of the nervous system	1594	CYP27B1	OMIM:264700
HP:0000707	Abnormality of the nervous system	1594	CYP27B1	ORPHA:289157
HP:0000707	Abnormality of the nervous system	88	ACTN2	OMIM:618655
HP:0000707	Abnormality of the nervous system	7471	WNT1	ORPHA:85193
HP:0000707	Abnormality of the nervous system	89780	WNT3A	ORPHA:85193
HP:0000707	Abnormality of the nervous system	7273	TTN	OMIM:603689
HP:0000707	Abnormality of the nervous system	7273	TTN	ORPHA:178464
HP:0000707	Abnormality of the nervous system	7273	TTN	ORPHA:609
HP:0000707	Abnormality of the nervous system	142680	SLC34A3	OMIM:241530
HP:0000707	Abnormality of the nervous system	203859	ANO5	ORPHA:399096
HP:0000707	Abnormality of the nervous system	6621	SNAPC4	OMIM:620515
HP:0000707	Abnormality of the nervous system	6901	TAFAZZIN	OMIM:302060
HP:0000707	Abnormality of the nervous system	84627	ZNF469	ORPHA:90354
HP:0000707	Abnormality of the nervous system	4883	NPR3	OMIM:619543
HP:0000707	Abnormality of the nervous system	6443	SGCB	ORPHA:119
HP:0000707	Abnormality of the nervous system	518	ATP5MC3	OMIM:619681
HP:0000707	Abnormality of the nervous system	26175	LYSET	OMIM:619345
HP:0000707	Abnormality of the nervous system	2992	GYG1	OMIM:616199
HP:0000707	Abnormality of the nervous system	4762	NEUROG1	OMIM:620469
HP:0000707	Abnormality of the nervous system	5317	PKP1	ORPHA:158668
HP:0000707	Abnormality of the nervous system	1073	CFL2	OMIM:610687
HP:0000707	Abnormality of the nervous system	1073	CFL2	ORPHA:171436
HP:0000707	Abnormality of the nervous system	80217	CFAP43	OMIM:236690
HP:0000707	Abnormality of the nervous system	125170	MIEF2	OMIM:619024
HP:0000707	Abnormality of the nervous system	7421	VDR	ORPHA:93160
HP:0000707	Abnormality of the nervous system	7421	VDR	OMIM:277440
HP:0000707	Abnormality of the nervous system	84876	ORAI1	OMIM:612782
HP:0000707	Abnormality of the nervous system	8557	TCAP	OMIM:601954
HP:0000707	Abnormality of the nervous system	5255	PHKA1	ORPHA:715
HP:0000707	Abnormality of the nervous system	5260	PHKG1	ORPHA:715
HP:0000707	Abnormality of the nervous system	2259	FGF14	ORPHA:98764
HP:0000707	Abnormality of the nervous system	10613	ERLIN1	ORPHA:401785
HP:0000707	Abnormality of the nervous system	10613	ERLIN1	OMIM:615681
HP:0000707	Abnormality of the nervous system	11149	POPDC1	OMIM:616812
HP:0000707	Abnormality of the nervous system	84033	OBSCN	ORPHA:99845
HP:0000707	Abnormality of the nervous system	23175	LPIN1	ORPHA:99845
HP:0000707	Abnormality of the nervous system	60681	FKBP10	ORPHA:1149
HP:0000707	Abnormality of the nervous system	51142	CHCHD2	OMIM:616710
HP:0000707	Abnormality of the nervous system	579	NKX3-2	OMIM:613330
HP:0000707	Abnormality of the nervous system	4148	MATN3	ORPHA:93311
HP:0000707	Abnormality of the nervous system	6652	SORD	OMIM:618912
HP:0000707	Abnormality of the nervous system	84679	SLC9A7	OMIM:301024
HP:0000707	Abnormality of the nervous system	57599	WDR48	ORPHA:401800
HP:0000707	Abnormality of the nervous system	81545	FBXO38	OMIM:615575
HP:0000707	Abnormality of the nervous system	4322	MMP13	ORPHA:2501
HP:0000707	Abnormality of the nervous system	7388	UQCRH	OMIM:620137
HP:0000707	Abnormality of the nervous system	5396	PRRX1	ORPHA:990
HP:0000707	Abnormality of the nervous system	64127	NOD2	ORPHA:90340
HP:0000707	Abnormality of the nervous system	64127	NOD2	OMIM:186580
HP:0000707	Abnormality of the nervous system	2248	FGF3	ORPHA:90024
HP:0000707	Abnormality of the nervous system	9149	DYRK1B	OMIM:615812
HP:0000707	Abnormality of the nervous system	5346	PLIN1	OMIM:613877
HP:0000707	Abnormality of the nervous system	3291	HSD11B2	ORPHA:320
HP:0000707	Abnormality of the nervous system	10370	CITED2	ORPHA:99105
HP:0000707	Abnormality of the nervous system	10370	CITED2	ORPHA:99103
HP:0000707	Abnormality of the nervous system	7092	TLL1	ORPHA:99103
HP:0000707	Abnormality of the nervous system	57057	TBX20	ORPHA:99103
HP:0000707	Abnormality of the nervous system	4624	MYH6	ORPHA:99103
HP:0000707	Abnormality of the nervous system	70	ACTC1	ORPHA:99103
HP:0000707	Abnormality of the nervous system	4607	MYBPC3	OMIM:115197
HP:0000707	Abnormality of the nervous system	7139	TNNT2	ORPHA:75249
HP:0000707	Abnormality of the nervous system	10112	KIF20A	ORPHA:75249
HP:0000707	Abnormality of the nervous system	80206	FHOD3	OMIM:619402
HP:0000707	Abnormality of the nervous system	2147	F2	OMIM:601367
HP:0000707	Abnormality of the nervous system	5583	PRKCH	OMIM:601367
HP:0000707	Abnormality of the nervous system	241	ALOX5AP	OMIM:601367
HP:0000707	Abnormality of the nervous system	7535	ZAP70	ORPHA:911
HP:0000707	Abnormality of the nervous system	25915	NDUFAF3	ORPHA:2609
HP:0000707	Abnormality of the nervous system	51103	NDUFAF1	ORPHA:2609
HP:0000707	Abnormality of the nervous system	51103	NDUFAF1	OMIM:618234
HP:0000707	Abnormality of the nervous system	4716	NDUFB10	ORPHA:2609
HP:0000707	Abnormality of the nervous system	55863	TMEM126B	ORPHA:2609
HP:0000707	Abnormality of the nervous system	4729	NDUFV2	ORPHA:2609
HP:0000707	Abnormality of the nervous system	4729	NDUFV2	OMIM:618229
HP:0000707	Abnormality of the nervous system	4720	NDUFS2	ORPHA:2609
HP:0000707	Abnormality of the nervous system	4724	NDUFS4	ORPHA:2609
HP:0000707	Abnormality of the nervous system	4722	NDUFS3	ORPHA:2609
HP:0000707	Abnormality of the nervous system	4722	NDUFS3	OMIM:618230
HP:0000707	Abnormality of the nervous system	4709	NDUFB3	ORPHA:2609
HP:0000707	Abnormality of the nervous system	4709	NDUFB3	OMIM:618246
HP:0000707	Abnormality of the nervous system	80224	NUBPL	ORPHA:2609
HP:0000707	Abnormality of the nervous system	29078	NDUFAF4	ORPHA:2609
HP:0000707	Abnormality of the nervous system	29078	NDUFAF4	OMIM:618237
HP:0000707	Abnormality of the nervous system	4715	NDUFB9	ORPHA:2609
HP:0000707	Abnormality of the nervous system	27247	NFU1	OMIM:620938
HP:0000707	Abnormality of the nervous system	763	CA5A	OMIM:615751
HP:0000707	Abnormality of the nervous system	1355	COX15	OMIM:615119
HP:0000707	Abnormality of the nervous system	4695	NDUFA2	OMIM:618235
HP:0000707	Abnormality of the nervous system	6536	SLC6A9	OMIM:617301
HP:0000707	Abnormality of the nervous system	4511	MT-TC	OMIM:540000
HP:0000707	Abnormality of the nervous system	2859	GPR35	ORPHA:171
HP:0000707	Abnormality of the nervous system	10507	SEMA4D	ORPHA:171
HP:0000707	Abnormality of the nervous system	4485	MST1	ORPHA:171
HP:0000707	Abnormality of the nervous system	2898	GRIK2	OMIM:619580
HP:0000707	Abnormality of the nervous system	2562	GABRB3	ORPHA:2382
HP:0000707	Abnormality of the nervous system	5602	MAPK10	ORPHA:2382
HP:0000707	Abnormality of the nervous system	23316	CUX2	ORPHA:2382
HP:0000707	Abnormality of the nervous system	1106	CHD2	ORPHA:2382
HP:0000707	Abnormality of the nervous system	25930	PTPN23	OMIM:618890
HP:0000707	Abnormality of the nervous system	28976	ACAD9	ORPHA:99901
HP:0000707	Abnormality of the nervous system	28976	ACAD9	OMIM:611126
HP:0000707	Abnormality of the nervous system	51241	COX16	OMIM:619355
HP:0000707	Abnormality of the nervous system	90624	LYRM7	OMIM:615838
HP:0000707	Abnormality of the nervous system	6050	RNH1	OMIM:620461
HP:0000707	Abnormality of the nervous system	7284	TUFM	OMIM:610678
HP:0000707	Abnormality of the nervous system	1537	CYC1	OMIM:615453
HP:0000707	Abnormality of the nervous system	7040	TGFB1	OMIM:618213
HP:0000707	Abnormality of the nervous system	84274	COQ5	OMIM:619028
HP:0000707	Abnormality of the nervous system	87178	PNPT1	OMIM:614932
HP:0000707	Abnormality of the nervous system	8942	KYNU	ORPHA:79155
HP:0000707	Abnormality of the nervous system	6584	SLC22A5	OMIM:212140
HP:0000707	Abnormality of the nervous system	6620	SNCB	OMIM:127750
HP:0000707	Abnormality of the nervous system	847	CAT	ORPHA:926
HP:0000707	Abnormality of the nervous system	340075	ARSI	ORPHA:401815
HP:0000707	Abnormality of the nervous system	6607	SMN2	OMIM:253400
HP:0000707	Abnormality of the nervous system	80199	FUZ	ORPHA:3027
HP:0000707	Abnormality of the nervous system	79645	CLXN	OMIM:620642
HP:0000707	Abnormality of the nervous system	55112	DYNC2I1	ORPHA:93271
HP:0000707	Abnormality of the nervous system	57560	IFT80	ORPHA:93271
HP:0000707	Abnormality of the nervous system	79659	DYNC2H1	ORPHA:93271
HP:0000707	Abnormality of the nervous system	83871	RAB34	OMIM:620718
HP:0000707	Abnormality of the nervous system	2879	GPX4	ORPHA:93317
HP:0000707	Abnormality of the nervous system	202018	TAPT1	OMIM:616897
HP:0000707	Abnormality of the nervous system	6228	RPS23	OMIM:617412
HP:0000707	Abnormality of the nervous system	79783	SUGCT	ORPHA:35706
HP:0000707	Abnormality of the nervous system	641	BLM	OMIM:210900
HP:0000707	Abnormality of the nervous system	9725	TMEM63A	OMIM:618688
HP:0000707	Abnormality of the nervous system	5587	PRKD1	OMIM:617364
HP:0000707	Abnormality of the nervous system	7068	THRB	ORPHA:566243
HP:0000707	Abnormality of the nervous system	9948	WDR1	OMIM:150550
HP:0000707	Abnormality of the nervous system	6729	SRP54	OMIM:260400
HP:0000707	Abnormality of the nervous system	7012	TERC	OMIM:127550
HP:0000707	Abnormality of the nervous system	4052	LTBP1	OMIM:619451
HP:0000707	Abnormality of the nervous system	8091	HMGA2	ORPHA:94063
HP:0000707	Abnormality of the nervous system	23592	LEMD3	ORPHA:94063
HP:0000707	Abnormality of the nervous system	4990	SIX6	OMIM:206900
HP:0000707	Abnormality of the nervous system	91039	DPP9	OMIM:620331
HP:0000707	Abnormality of the nervous system	2887	GRB10	ORPHA:96182
HP:0000707	Abnormality of the nervous system	60676	PAPPA2	OMIM:619489
HP:0000707	Abnormality of the nervous system	5286	PIK3C2A	ORPHA:557003
HP:0000707	Abnormality of the nervous system	51109	RDH11	ORPHA:436245
HP:0000707	Abnormality of the nervous system	9231	DLG5	OMIM:620703
HP:0000707	Abnormality of the nervous system	57156	TMEM63C	OMIM:619966
HP:0000707	Abnormality of the nervous system	170825	GSX2	OMIM:618646
HP:0000707	Abnormality of the nervous system	79991	STN1	OMIM:617341
HP:0000707	Abnormality of the nervous system	85300	ATCAY	OMIM:601238
HP:0000707	Abnormality of the nervous system	1892	ECHS1	OMIM:616277
HP:0000707	Abnormality of the nervous system	51728	POLR3K	OMIM:619310
HP:0000707	Abnormality of the nervous system	56521	DNAJC12	OMIM:617384
HP:0000707	Abnormality of the nervous system	55967	NDUFA12	OMIM:618244
HP:0000707	Abnormality of the nervous system	2571	GAD1	OMIM:619124
HP:0000707	Abnormality of the nervous system	4329	ALDH6A1	OMIM:614105
HP:0000707	Abnormality of the nervous system	55149	MTPAP	ORPHA:254343
HP:0000707	Abnormality of the nervous system	8996	NOL3	OMIM:614937
HP:0000707	Abnormality of the nervous system	388662	SLC6A17	OMIM:616269
HP:0000707	Abnormality of the nervous system	11093	ADAMTS13	OMIM:274150
HP:0000707	Abnormality of the nervous system	119559	SFXN4	OMIM:615578
HP:0000707	Abnormality of the nervous system	2677	GGCX	OMIM:277450
HP:0000707	Abnormality of the nervous system	2244	FGB	ORPHA:98880
HP:0000707	Abnormality of the nervous system	2266	FGG	ORPHA:98880
HP:0000707	Abnormality of the nervous system	2165	F13B	ORPHA:331
HP:0000707	Abnormality of the nervous system	442721	LMOD2	OMIM:619897
HP:0000707	Abnormality of the nervous system	9103	FCGR2C	ORPHA:3002
HP:0000707	Abnormality of the nervous system	6007	RHD	OMIM:619462
HP:0000707	Abnormality of the nervous system	2660	MSTN	OMIM:614160
HP:0000707	Abnormality of the nervous system	9377	COX5A	OMIM:619064
HP:0000707	Abnormality of the nervous system	7125	TNNC2	OMIM:620161
HP:0000707	Abnormality of the nervous system	10651	MTX2	OMIM:619127
HP:0000707	Abnormality of the nervous system	284086	NEK8	OMIM:620903
HP:0000707	Abnormality of the nervous system	284086	NEK8	OMIM:613824
HP:0000707	Abnormality of the nervous system	9071	CLDN10	OMIM:617671
HP:0000707	Abnormality of the nervous system	5078	PAX4	OMIM:612225
HP:0000707	Abnormality of the nervous system	254428	SLC41A1	OMIM:619468
HP:0000707	Abnormality of the nervous system	9860	LRIG2	ORPHA:2704
HP:0000707	Abnormality of the nervous system	60495	HPSE2	ORPHA:2704
HP:0000707	Abnormality of the nervous system	6524	SLC5A2	OMIM:233100
HP:0000707	Abnormality of the nervous system	25981	DNAH1	ORPHA:244
HP:0000707	Abnormality of the nervous system	115948	ODAD3	ORPHA:244
HP:0000707	Abnormality of the nervous system	54768	HYDIN	ORPHA:244
HP:0000707	Abnormality of the nervous system	352909	DNAAF3	ORPHA:244
HP:0000707	Abnormality of the nervous system	27148	STK36	ORPHA:244
HP:0000707	Abnormality of the nervous system	51314	NME8	ORPHA:244
HP:0000707	Abnormality of the nervous system	92749	DRC1	ORPHA:244
HP:0000707	Abnormality of the nervous system	54970	TTC12	ORPHA:244
HP:0000707	Abnormality of the nervous system	152110	NEK10	ORPHA:244
HP:0000707	Abnormality of the nervous system	2302	FOXJ1	ORPHA:244
HP:0000707	Abnormality of the nervous system	221421	RSPH9	ORPHA:244
HP:0000707	Abnormality of the nervous system	85478	CCDC65	ORPHA:244
HP:0000707	Abnormality of the nervous system	55036	CCDC40	ORPHA:244
HP:0000707	Abnormality of the nervous system	51364	ZMYND10	ORPHA:244
HP:0000707	Abnormality of the nervous system	64446	DNAI2	ORPHA:244
HP:0000707	Abnormality of the nervous system	8382	NME5	ORPHA:244
HP:0000707	Abnormality of the nervous system	6674	SPAG1	ORPHA:244
HP:0000707	Abnormality of the nervous system	83544	DNAL1	ORPHA:244
HP:0000707	Abnormality of the nervous system	89765	RSPH1	ORPHA:244
HP:0000707	Abnormality of the nervous system	83538	ODAD4	ORPHA:244
HP:0000707	Abnormality of the nervous system	200373	CFAP221	ORPHA:244
HP:0000707	Abnormality of the nervous system	374407	DNAJB13	ORPHA:244
HP:0000707	Abnormality of the nervous system	55172	DNAAF2	ORPHA:244
HP:0000707	Abnormality of the nervous system	161582	DNAAF4	ORPHA:244
HP:0000707	Abnormality of the nervous system	2622	GAS8	ORPHA:244
HP:0000707	Abnormality of the nervous system	23639	DNAAF11	ORPHA:244
HP:0000707	Abnormality of the nervous system	345895	RSPH4A	ORPHA:244
HP:0000707	Abnormality of the nervous system	54919	DNAAF5	ORPHA:244
HP:0000707	Abnormality of the nervous system	6103	RPGR	ORPHA:244
HP:0000707	Abnormality of the nervous system	85452	CFAP74	ORPHA:244
HP:0000707	Abnormality of the nervous system	93233	ODAD1	ORPHA:244
HP:0000707	Abnormality of the nervous system	55130	ODAD2	ORPHA:244
HP:0000707	Abnormality of the nervous system	1767	DNAH5	ORPHA:244
HP:0000707	Abnormality of the nervous system	83861	RSPH3	ORPHA:244
HP:0000707	Abnormality of the nervous system	345643	MCIDAS	ORPHA:244
HP:0000707	Abnormality of the nervous system	56683	CFAP298	ORPHA:244
HP:0000707	Abnormality of the nervous system	79925	SPEF2	ORPHA:244
HP:0000707	Abnormality of the nervous system	10309	CCNO	ORPHA:244
HP:0000707	Abnormality of the nervous system	115399	LRRC56	ORPHA:244
HP:0000707	Abnormality of the nervous system	139212	DNAAF6	ORPHA:244
HP:0000707	Abnormality of the nervous system	123872	DNAAF1	ORPHA:244
HP:0000707	Abnormality of the nervous system	85016	CFAP300	ORPHA:244
HP:0000707	Abnormality of the nervous system	339829	CCDC39	ORPHA:244
HP:0000707	Abnormality of the nervous system	8701	DNAH11	ORPHA:244
HP:0000707	Abnormality of the nervous system	1770	DNAH9	ORPHA:244
HP:0000707	Abnormality of the nervous system	246176	GAS2L2	ORPHA:244
HP:0000707	Abnormality of the nervous system	2673	GFPT1	OMIM:608931
HP:0000707	Abnormality of the nervous system	1410	CRYAB	OMIM:608810
HP:0000707	Abnormality of the nervous system	1410	CRYAB	ORPHA:399058
HP:0000707	Abnormality of the nervous system	4287	ATXN3	OMIM:109150
HP:0000707	Abnormality of the nervous system	4287	ATXN3	OMIM:168600
HP:0000707	Abnormality of the nervous system	4287	ATXN3	ORPHA:276238
HP:0000707	Abnormality of the nervous system	4287	ATXN3	ORPHA:276244
HP:0000707	Abnormality of the nervous system	4287	ATXN3	ORPHA:276241
HP:0000707	Abnormality of the nervous system	8106	PABPN1	ORPHA:270
HP:0000707	Abnormality of the nervous system	8106	PABPN1	OMIM:164300
HP:0000707	Abnormality of the nervous system	1144	CHRND	OMIM:616321
HP:0000707	Abnormality of the nervous system	1144	CHRND	OMIM:616323
HP:0000707	Abnormality of the nervous system	4750	NEK1	OMIM:617892
HP:0000707	Abnormality of the nervous system	4750	NEK1	ORPHA:803
HP:0000707	Abnormality of the nervous system	23446	SLC44A1	OMIM:618868
HP:0000707	Abnormality of the nervous system	4593	MUSK	OMIM:616325
HP:0000707	Abnormality of the nervous system	57679	ALS2	ORPHA:247604
HP:0000707	Abnormality of the nervous system	57679	ALS2	OMIM:205100
HP:0000707	Abnormality of the nervous system	57679	ALS2	ORPHA:300605
HP:0000707	Abnormality of the nervous system	57679	ALS2	OMIM:607225
HP:0000707	Abnormality of the nervous system	57679	ALS2	OMIM:606353
HP:0000707	Abnormality of the nervous system	9499	MYOT	ORPHA:266
HP:0000707	Abnormality of the nervous system	5339	PLEC	ORPHA:254361
HP:0000707	Abnormality of the nervous system	6687	SPG7	ORPHA:99013
HP:0000707	Abnormality of the nervous system	6687	SPG7	OMIM:607259
HP:0000707	Abnormality of the nervous system	6687	SPG7	ORPHA:35689
HP:0000707	Abnormality of the nervous system	8291	DYSF	ORPHA:268
HP:0000707	Abnormality of the nervous system	4312	MMP1	ORPHA:79408
HP:0000707	Abnormality of the nervous system	1294	COL7A1	ORPHA:79408
HP:0000707	Abnormality of the nervous system	1294	COL7A1	OMIM:226600
HP:0000707	Abnormality of the nervous system	1294	COL7A1	ORPHA:89842
HP:0000707	Abnormality of the nervous system	79577	CDC73	ORPHA:143
HP:0000707	Abnormality of the nervous system	79577	CDC73	ORPHA:99880
HP:0000707	Abnormality of the nervous system	10528	NOP56	OMIM:614153
HP:0000707	Abnormality of the nervous system	10528	NOP56	ORPHA:276198
HP:0000707	Abnormality of the nervous system	101060691	NUTM2B-AS1	OMIM:618637
HP:0000707	Abnormality of the nervous system	9723	SEMA3E	ORPHA:138
HP:0000707	Abnormality of the nervous system	1890	TYMP	ORPHA:298
HP:0000707	Abnormality of the nervous system	1890	TYMP	OMIM:603041
HP:0000707	Abnormality of the nervous system	3980	LIG3	ORPHA:298
HP:0000707	Abnormality of the nervous system	3980	LIG3	OMIM:619780
HP:0000707	Abnormality of the nervous system	8575	PRKRA	ORPHA:210571
HP:0000707	Abnormality of the nervous system	8575	PRKRA	OMIM:612067
HP:0000707	Abnormality of the nervous system	10939	AFG3L2	ORPHA:313772
HP:0000707	Abnormality of the nervous system	10939	AFG3L2	OMIM:614487
HP:0000707	Abnormality of the nervous system	4620	MYH2	OMIM:605637
HP:0000707	Abnormality of the nervous system	857	CAV1	OMIM:606721
HP:0000707	Abnormality of the nervous system	857	CAV1	ORPHA:220402
HP:0000707	Abnormality of the nervous system	857	CAV1	ORPHA:220393
HP:0000707	Abnormality of the nervous system	10935	PRDX3	OMIM:619862
HP:0000707	Abnormality of the nervous system	246243	RNASEH1	OMIM:616479
HP:0000707	Abnormality of the nervous system	246243	RNASEH1	ORPHA:329336
HP:0000707	Abnormality of the nervous system	950	SCARB2	OMIM:254900
HP:0000707	Abnormality of the nervous system	9897	WASHC5	OMIM:603563
HP:0000707	Abnormality of the nervous system	8622	PDE8B	ORPHA:228169
HP:0000707	Abnormality of the nervous system	3572	IL6ST	OMIM:619751
HP:0000707	Abnormality of the nervous system	23259	DDHD2	OMIM:615033
HP:0000707	Abnormality of the nervous system	23259	DDHD2	ORPHA:320380
HP:0000707	Abnormality of the nervous system	54902	TTC19	OMIM:615157
HP:0000707	Abnormality of the nervous system	1180	CLCN1	OMIM:255700
HP:0000707	Abnormality of the nervous system	1180	CLCN1	ORPHA:614
HP:0000707	Abnormality of the nervous system	93986	FOXP2	ORPHA:251061
HP:0000707	Abnormality of the nervous system	4076	CAPRIN1	OMIM:620636
HP:0000707	Abnormality of the nervous system	10342	TFG	ORPHA:90117
HP:0000707	Abnormality of the nervous system	4626	MYH8	OMIM:158300
HP:0000707	Abnormality of the nervous system	55612	FERMT1	ORPHA:2908
HP:0000707	Abnormality of the nervous system	55612	FERMT1	OMIM:173650
HP:0000707	Abnormality of the nervous system	4123	MAN2C1	OMIM:619775
HP:0000707	Abnormality of the nervous system	3798	KIF5A	OMIM:617235
HP:0000707	Abnormality of the nervous system	339855	KY	OMIM:617114
HP:0000707	Abnormality of the nervous system	339855	KY	ORPHA:496689
HP:0000707	Abnormality of the nervous system	79977	GRHL2	OMIM:616029
HP:0000707	Abnormality of the nervous system	6240	RRM1	OMIM:620647
HP:0000707	Abnormality of the nervous system	5837	PYGM	ORPHA:368
HP:0000707	Abnormality of the nervous system	2512	FTL	ORPHA:157846
HP:0000707	Abnormality of the nervous system	2512	FTL	OMIM:606159
HP:0000707	Abnormality of the nervous system	5081	PAX7	OMIM:618578
HP:0000707	Abnormality of the nervous system	4487	MSX1	ORPHA:141291
HP:0000707	Abnormality of the nervous system	3664	IRF6	ORPHA:141291
HP:0000707	Abnormality of the nervous system	353116	RILPL1	OMIM:619790
HP:0000707	Abnormality of the nervous system	23111	SPART	OMIM:275900
HP:0000707	Abnormality of the nervous system	23111	SPART	ORPHA:101000
HP:0000707	Abnormality of the nervous system	4137	MAPT	OMIM:601104
HP:0000707	Abnormality of the nervous system	4137	MAPT	ORPHA:240112
HP:0000707	Abnormality of the nervous system	4137	MAPT	ORPHA:240103
HP:0000707	Abnormality of the nervous system	4137	MAPT	OMIM:168600
HP:0000707	Abnormality of the nervous system	56896	DPYSL5	OMIM:619435
HP:0000707	Abnormality of the nervous system	54892	NCAPG2	OMIM:618460
HP:0000707	Abnormality of the nervous system	53371	NUP54	OMIM:620427
HP:0000707	Abnormality of the nervous system	53371	NUP54	ORPHA:225154
HP:0000707	Abnormality of the nervous system	79912	PYROXD1	OMIM:617258
HP:0000707	Abnormality of the nervous system	1235	CCR6	ORPHA:220402
HP:0000707	Abnormality of the nervous system	1235	CCR6	ORPHA:220393
HP:0000707	Abnormality of the nervous system	1490	CCN2	ORPHA:220402
HP:0000707	Abnormality of the nervous system	1490	CCN2	ORPHA:220393
HP:0000707	Abnormality of the nervous system	81790	RNF170	OMIM:619686
HP:0000707	Abnormality of the nervous system	84909	AOPEP	OMIM:619565
HP:0000707	Abnormality of the nervous system	710	SERPING1	ORPHA:100050
HP:0000707	Abnormality of the nervous system	1760	DMPK	OMIM:160900
HP:0000707	Abnormality of the nervous system	1760	DMPK	ORPHA:589821
HP:0000707	Abnormality of the nervous system	387119	CEP85L	ORPHA:572013
HP:0000707	Abnormality of the nervous system	5980	REV3L	ORPHA:570
HP:0000707	Abnormality of the nervous system	23129	PLXND1	ORPHA:570
HP:0000707	Abnormality of the nervous system	65055	REEP1	ORPHA:101011
HP:0000707	Abnormality of the nervous system	65055	REEP1	OMIM:610250
HP:0000707	Abnormality of the nervous system	56915	EXOSC5	OMIM:619576
HP:0000707	Abnormality of the nervous system	51132	RLIM	OMIM:300978
HP:0000707	Abnormality of the nervous system	4704	NDUFA9	OMIM:618247
HP:0000707	Abnormality of the nervous system	29978	UBQLN2	OMIM:300857
HP:0000707	Abnormality of the nervous system	29978	UBQLN2	ORPHA:803
HP:0000707	Abnormality of the nervous system	182	JAG1	OMIM:619574
HP:0000707	Abnormality of the nervous system	54834	GDAP2	OMIM:618369
HP:0000707	Abnormality of the nervous system	2131	EXT1	ORPHA:321
HP:0000707	Abnormality of the nervous system	6329	SCN4A	ORPHA:684
HP:0000707	Abnormality of the nervous system	6329	SCN4A	ORPHA:99735
HP:0000707	Abnormality of the nervous system	6329	SCN4A	ORPHA:99736
HP:0000707	Abnormality of the nervous system	51102	MECR	OMIM:617282
HP:0000707	Abnormality of the nervous system	51102	MECR	ORPHA:508093
HP:0000707	Abnormality of the nervous system	51324	SPG21	ORPHA:101001
HP:0000707	Abnormality of the nervous system	51324	SPG21	OMIM:248900
HP:0000707	Abnormality of the nervous system	146206	CARMIL2	OMIM:618131
HP:0000707	Abnormality of the nervous system	2705	GJB1	OMIM:302800
HP:0000707	Abnormality of the nervous system	51305	KCNK9	ORPHA:166108
HP:0000707	Abnormality of the nervous system	51305	KCNK9	OMIM:612292
HP:0000707	Abnormality of the nervous system	29967	LRP12	OMIM:620452
HP:0000707	Abnormality of the nervous system	29967	LRP12	OMIM:164310
HP:0000707	Abnormality of the nervous system	4629	MYH11	OMIM:619350
HP:0000707	Abnormality of the nervous system	9757	KMT2B	ORPHA:589618
HP:0000707	Abnormality of the nervous system	55975	KLHL7	OMIM:617055
HP:0000707	Abnormality of the nervous system	55697	VAC14	OMIM:617054
HP:0000707	Abnormality of the nervous system	10526	IPO8	OMIM:619472
HP:0000707	Abnormality of the nervous system	2318	FLNC	ORPHA:63273
HP:0000707	Abnormality of the nervous system	7345	UCHL1	OMIM:620221
HP:0000707	Abnormality of the nervous system	3181	HNRNPA2B1	OMIM:620460
HP:0000707	Abnormality of the nervous system	23636	NUP62	ORPHA:225154
HP:0000707	Abnormality of the nervous system	23636	NUP62	OMIM:271930
HP:0000707	Abnormality of the nervous system	72	ACTG2	OMIM:155310
HP:0000707	Abnormality of the nervous system	3815	KIT	ORPHA:44890
HP:0000707	Abnormality of the nervous system	3815	KIT	OMIM:606764
HP:0000707	Abnormality of the nervous system	1984	EIF5A	OMIM:619376
HP:0000707	Abnormality of the nervous system	79651	RHBDF2	ORPHA:2198
HP:0000707	Abnormality of the nervous system	5216	PFN1	OMIM:614808
HP:0000707	Abnormality of the nervous system	5216	PFN1	ORPHA:803
HP:0000707	Abnormality of the nervous system	1678	TIMM8A	ORPHA:52368
HP:0000707	Abnormality of the nervous system	1678	TIMM8A	OMIM:304700
HP:0000707	Abnormality of the nervous system	4914	NTRK1	ORPHA:642
HP:0000707	Abnormality of the nervous system	64432	MRPS25	OMIM:619025
HP:0000707	Abnormality of the nervous system	132001	TAMM41	OMIM:620139
HP:0000707	Abnormality of the nervous system	126	ADH1C	OMIM:168600
HP:0000707	Abnormality of the nervous system	9627	SNCAIP	OMIM:168600
HP:0000707	Abnormality of the nervous system	6311	ATXN2	OMIM:168600
HP:0000707	Abnormality of the nervous system	6311	ATXN2	OMIM:183090
HP:0000707	Abnormality of the nervous system	6311	ATXN2	ORPHA:803
HP:0000707	Abnormality of the nervous system	6315	ATXN8OS	OMIM:168600
HP:0000707	Abnormality of the nervous system	6315	ATXN8OS	ORPHA:98760
HP:0000707	Abnormality of the nervous system	6315	ATXN8OS	OMIM:608768
HP:0000707	Abnormality of the nervous system	6622	SNCA	OMIM:168601
HP:0000707	Abnormality of the nervous system	6622	SNCA	ORPHA:171695
HP:0000707	Abnormality of the nervous system	6622	SNCA	ORPHA:411602
HP:0000707	Abnormality of the nervous system	3156	HMGCR	OMIM:620375
HP:0000707	Abnormality of the nervous system	5605	MAP2K2	ORPHA:638
HP:0000707	Abnormality of the nervous system	80308	FLAD1	OMIM:255100
HP:0000707	Abnormality of the nervous system	7138	TNNT1	OMIM:620389
HP:0000707	Abnormality of the nervous system	5111	PCNA	OMIM:615919
HP:0000707	Abnormality of the nervous system	4281	MID1	OMIM:300000
HP:0000707	Abnormality of the nervous system	4281	MID1	ORPHA:2745
HP:0000707	Abnormality of the nervous system	10324	KLHL41	ORPHA:171433
HP:0000707	Abnormality of the nervous system	10324	KLHL41	ORPHA:171430
HP:0000707	Abnormality of the nervous system	131377	KLHL40	ORPHA:171430
HP:0000707	Abnormality of the nervous system	131377	KLHL40	OMIM:615348
HP:0000707	Abnormality of the nervous system	4842	NOS1	ORPHA:930
HP:0000707	Abnormality of the nervous system	7298	TYMS	OMIM:620040
HP:0000707	Abnormality of the nervous system	729359	PLIN4	OMIM:601846
HP:0000707	Abnormality of the nervous system	146862	UNC45B	OMIM:619178
HP:0000707	Abnormality of the nervous system	5119	CHMP1A	OMIM:614961
HP:0000707	Abnormality of the nervous system	7555	CNBP	ORPHA:606
HP:0000707	Abnormality of the nervous system	9570	GOSR2	OMIM:620166
HP:0000707	Abnormality of the nervous system	4151	MB	OMIM:620286
HP:0000707	Abnormality of the nervous system	26278	SACS	ORPHA:98
HP:0000707	Abnormality of the nervous system	57190	SELENON	ORPHA:2020
HP:0000707	Abnormality of the nervous system	4633	MYL2	ORPHA:2020
HP:0000707	Abnormality of the nervous system	3679	ITGA7	ORPHA:2020
HP:0000707	Abnormality of the nervous system	9200	HACD1	ORPHA:2020
HP:0000707	Abnormality of the nervous system	51776	MAP3K20	ORPHA:2020
HP:0000707	Abnormality of the nervous system	7156	TOP3A	OMIM:618098
HP:0000707	Abnormality of the nervous system	1600	DAB1	OMIM:615945
HP:0000707	Abnormality of the nervous system	2395	FXN	ORPHA:95
HP:0000707	Abnormality of the nervous system	5251	PHEX	ORPHA:89936
HP:0000707	Abnormality of the nervous system	23533	PIK3R5	ORPHA:64753
HP:0000707	Abnormality of the nervous system	23064	SETX	ORPHA:64753
HP:0000707	Abnormality of the nervous system	23064	SETX	OMIM:606002
HP:0000707	Abnormality of the nervous system	3211	HOXB1	OMIM:614744
HP:0000707	Abnormality of the nervous system	146057	TTBK2	ORPHA:98767
HP:0000707	Abnormality of the nervous system	92667	MGME1	ORPHA:352447
HP:0000707	Abnormality of the nervous system	6558	SLC12A2	OMIM:619083
HP:0000707	Abnormality of the nervous system	724066	ATXN8	ORPHA:98760
HP:0000707	Abnormality of the nervous system	724066	ATXN8	OMIM:608768
HP:0000707	Abnormality of the nervous system	492	ATP2B3	OMIM:302500
HP:0000707	Abnormality of the nervous system	3208	HPCA	OMIM:224500
HP:0000707	Abnormality of the nervous system	10280	SIGMAR1	ORPHA:300605
HP:0000707	Abnormality of the nervous system	10558	SPTLC1	ORPHA:300605
HP:0000707	Abnormality of the nervous system	6774	STAT3	OMIM:147060
HP:0000707	Abnormality of the nervous system	255928	SYT14	ORPHA:284271
HP:0000707	Abnormality of the nervous system	255928	SYT14	OMIM:614229
HP:0000707	Abnormality of the nervous system	10133	OPTN	OMIM:613435
HP:0000707	Abnormality of the nervous system	10133	OPTN	ORPHA:803
HP:0000707	Abnormality of the nervous system	85021	REPS1	OMIM:617916
HP:0000707	Abnormality of the nervous system	3752	KCND3	OMIM:607346
HP:0000707	Abnormality of the nervous system	25978	CHMP2B	ORPHA:803
HP:0000707	Abnormality of the nervous system	3178	HNRNPA1	ORPHA:803
HP:0000707	Abnormality of the nervous system	8148	TAF15	ORPHA:803
HP:0000707	Abnormality of the nervous system	5445	PON2	ORPHA:803
HP:0000707	Abnormality of the nervous system	9217	VAPB	ORPHA:803
HP:0000707	Abnormality of the nervous system	9217	VAPB	OMIM:608627
HP:0000707	Abnormality of the nervous system	5630	PRPH	ORPHA:803
HP:0000707	Abnormality of the nervous system	5630	PRPH	OMIM:105400
HP:0000707	Abnormality of the nervous system	55830	GLT8D1	ORPHA:803
HP:0000707	Abnormality of the nervous system	755	CFAP410	ORPHA:803
HP:0000707	Abnormality of the nervous system	10891	PPARGC1A	ORPHA:803
HP:0000707	Abnormality of the nervous system	6647	SOD1	ORPHA:803
HP:0000707	Abnormality of the nervous system	6647	SOD1	OMIM:105400
HP:0000707	Abnormality of the nervous system	1639	DCTN1	ORPHA:803
HP:0000707	Abnormality of the nervous system	1639	DCTN1	OMIM:105400
HP:0000707	Abnormality of the nervous system	5444	PON1	ORPHA:803
HP:0000707	Abnormality of the nervous system	5446	PON3	ORPHA:803
HP:0000707	Abnormality of the nervous system	4744	NEFH	ORPHA:803
HP:0000707	Abnormality of the nervous system	4744	NEFH	OMIM:105400
HP:0000707	Abnormality of the nervous system	283	ANG	ORPHA:803
HP:0000707	Abnormality of the nervous system	1610	DAO	ORPHA:803
HP:0000707	Abnormality of the nervous system	2066	ERBB4	ORPHA:803
HP:0000707	Abnormality of the nervous system	311	ANXA11	ORPHA:803
HP:0000707	Abnormality of the nervous system	311	ANXA11	OMIM:617839
HP:0000707	Abnormality of the nervous system	23025	UNC13A	ORPHA:803
HP:0000707	Abnormality of the nervous system	899	CCNF	ORPHA:803
HP:0000707	Abnormality of the nervous system	6314	ATXN7	ORPHA:94147
HP:0000707	Abnormality of the nervous system	6314	ATXN7	OMIM:164500
HP:0000707	Abnormality of the nervous system	25793	FBXO7	ORPHA:171695
HP:0000707	Abnormality of the nervous system	51067	YARS2	OMIM:613561
HP:0000707	Abnormality of the nervous system	284119	CAVIN1	OMIM:613327
HP:0000707	Abnormality of the nervous system	23534	TNPO3	OMIM:608423
HP:0000707	Abnormality of the nervous system	1861	TOR1A	OMIM:128100
HP:0000707	Abnormality of the nervous system	1288	COL4A6	ORPHA:1018
HP:0000707	Abnormality of the nervous system	1287	COL4A5	ORPHA:1018
HP:0000707	Abnormality of the nervous system	2982	GUCY1A1	OMIM:615750
HP:0000707	Abnormality of the nervous system	9420	CYP7B1	ORPHA:100986
HP:0000707	Abnormality of the nervous system	29926	GMPPA	OMIM:615510
HP:0000707	Abnormality of the nervous system	54832	VPS13C	OMIM:616840
HP:0000707	Abnormality of the nervous system	57704	GBA2	ORPHA:352641
HP:0000707	Abnormality of the nervous system	79587	CARS2	ORPHA:477774
HP:0000707	Abnormality of the nervous system	10320	IKZF1	ORPHA:36426
HP:0000707	Abnormality of the nervous system	25953	PNKD	OMIM:118800
HP:0000707	Abnormality of the nervous system	23317	DNAJC13	ORPHA:411602
HP:0000707	Abnormality of the nervous system	1981	EIF4G1	ORPHA:411602
HP:0000707	Abnormality of the nervous system	55737	VPS35	ORPHA:411602
HP:0000707	Abnormality of the nervous system	120892	LRRK2	ORPHA:411602
HP:0000707	Abnormality of the nervous system	26058	GIGYF2	ORPHA:411602
HP:0000707	Abnormality of the nervous system	51008	ASCC1	OMIM:616867
HP:0000707	Abnormality of the nervous system	9325	TRIP4	OMIM:616866
HP:0000707	Abnormality of the nervous system	7849	PAX8	ORPHA:95712
HP:0000707	Abnormality of the nervous system	1482	NKX2-5	ORPHA:95712
HP:0000707	Abnormality of the nervous system	5582	PRKCG	OMIM:605361
HP:0000707	Abnormality of the nervous system	3417	IDH1	ORPHA:163634
HP:0000707	Abnormality of the nervous system	84617	TUBB6	OMIM:617732
HP:0000707	Abnormality of the nervous system	122553	TRAPPC6B	OMIM:617862
HP:0000707	Abnormality of the nervous system	28957	MRPS28	OMIM:618958
HP:0000707	Abnormality of the nervous system	8292	COLQ	ORPHA:98915
HP:0000707	Abnormality of the nervous system	8292	COLQ	OMIM:603034
HP:0000707	Abnormality of the nervous system	3913	LAMB2	ORPHA:98915
HP:0000707	Abnormality of the nervous system	22943	DKK1	ORPHA:268882
HP:0000707	Abnormality of the nervous system	7515	XRCC1	OMIM:617633
HP:0000707	Abnormality of the nervous system	4359	MPZ	OMIM:607736
HP:0000707	Abnormality of the nervous system	4747	NEFL	OMIM:607734
HP:0000707	Abnormality of the nervous system	861	RUNX1	ORPHA:98850
HP:0000707	Abnormality of the nervous system	5774	PTPN3	ORPHA:70567
HP:0000707	Abnormality of the nervous system	6098	ROS1	ORPHA:70567
HP:0000707	Abnormality of the nervous system	915	CD3D	ORPHA:169160
HP:0000707	Abnormality of the nervous system	916	CD3E	ORPHA:169160
HP:0000707	Abnormality of the nervous system	919	CD247	ORPHA:169160
HP:0000707	Abnormality of the nervous system	285282	RABL3	ORPHA:1333
HP:0000707	Abnormality of the nervous system	23022	PALLD	ORPHA:1333
HP:0000707	Abnormality of the nervous system	5371	PML	ORPHA:520
HP:0000707	Abnormality of the nervous system	5914	RARA	ORPHA:520
HP:0000707	Abnormality of the nervous system	359948	IRF2BP2	ORPHA:520
HP:0000707	Abnormality of the nervous system	81608	FIP1L1	ORPHA:520
HP:0000707	Abnormality of the nervous system	64859	NABP1	ORPHA:520
HP:0000707	Abnormality of the nervous system	4926	NUMA1	ORPHA:520
HP:0000707	Abnormality of the nervous system	7704	ZBTB16	ORPHA:520
HP:0000707	Abnormality of the nervous system	4261	CIITA	ORPHA:572
HP:0000707	Abnormality of the nervous system	5993	RFX5	ORPHA:572
HP:0000707	Abnormality of the nervous system	2196	FAT2	OMIM:617769
HP:0000707	Abnormality of the nervous system	26011	TENM4	OMIM:616736
HP:0000707	Abnormality of the nervous system	27102	EIF2AK1	OMIM:618878
HP:0000707	Abnormality of the nervous system	2554	GABRA1	ORPHA:64280
HP:0000707	Abnormality of the nervous system	8912	CACNA1H	ORPHA:64280
HP:0000707	Abnormality of the nervous system	8629	JRK	ORPHA:64280
HP:0000707	Abnormality of the nervous system	81555	YIPF5	OMIM:619278
HP:0000707	Abnormality of the nervous system	785	CACNB4	OMIM:613855
HP:0000707	Abnormality of the nervous system	785	CACNB4	OMIM:607682
HP:0000707	Abnormality of the nervous system	2997	GYS1	OMIM:611556
HP:0000707	Abnormality of the nervous system	55325	UFSP2	OMIM:620028
HP:0000707	Abnormality of the nervous system	55733	HHAT	OMIM:600092
HP:0000707	Abnormality of the nervous system	57582	KCNT1	ORPHA:293181
HP:0000707	Abnormality of the nervous system	57582	KCNT1	ORPHA:98784
HP:0000707	Abnormality of the nervous system	154881	KCTD7	ORPHA:263516
HP:0000707	Abnormality of the nervous system	24137	KIF4A	OMIM:300923
HP:0000707	Abnormality of the nervous system	10565	ARFGEF1	OMIM:619964
HP:0000707	Abnormality of the nervous system	3781	KCNN2	OMIM:619725
HP:0000707	Abnormality of the nervous system	1476	CSTB	OMIM:254800
HP:0000707	Abnormality of the nervous system	64780	MICAL1	OMIM:600512
HP:0000707	Abnormality of the nervous system	3899	AFF3	OMIM:619297
HP:0000707	Abnormality of the nervous system	815	CAMK2A	OMIM:617798
HP:0000707	Abnormality of the nervous system	80856	LNPK	OMIM:618090
HP:0000707	Abnormality of the nervous system	10087	CERT1	OMIM:616351
HP:0000707	Abnormality of the nervous system	10715	CERS1	OMIM:616230
HP:0000707	Abnormality of the nervous system	283987	HID1	OMIM:619983
HP:0000707	Abnormality of the nervous system	4697	NDUFA4	OMIM:619065
HP:0000707	Abnormality of the nervous system	124512	METTL23	OMIM:615942
HP:0000707	Abnormality of the nervous system	112755	STX1B	ORPHA:36387
HP:0000707	Abnormality of the nervous system	112755	STX1B	OMIM:616172
HP:0000707	Abnormality of the nervous system	2258	FGF13	ORPHA:36387
HP:0000707	Abnormality of the nervous system	2258	FGF13	OMIM:301058
HP:0000707	Abnormality of the nervous system	84059	ADGRV1	ORPHA:36387
HP:0000707	Abnormality of the nervous system	84059	ADGRV1	OMIM:604352
HP:0000707	Abnormality of the nervous system	610	HCN2	OMIM:602477
HP:0000707	Abnormality of the nervous system	84138	SLC7A6OS	OMIM:619191
HP:0000707	Abnormality of the nervous system	1182	CLCN3	OMIM:619512
HP:0000707	Abnormality of the nervous system	9354	UBE4A	OMIM:619639
HP:0000707	Abnormality of the nervous system	116115	ZNF526	OMIM:619877
HP:0000707	Abnormality of the nervous system	7701	ZNF142	OMIM:618425
HP:0000707	Abnormality of the nervous system	83475	DOHH	OMIM:620066
HP:0000707	Abnormality of the nervous system	51611	DPH5	OMIM:620070
HP:0000707	Abnormality of the nervous system	163175	LGI4	OMIM:617468
HP:0000707	Abnormality of the nervous system	9772	TMEM94	OMIM:618316
HP:0000707	Abnormality of the nervous system	2556	GABRA3	OMIM:301091
HP:0000707	Abnormality of the nervous system	8218	CLTCL1	ORPHA:453510
HP:0000707	Abnormality of the nervous system	85440	DOCK7	OMIM:615859
HP:0000707	Abnormality of the nervous system	114327	EFHC1	ORPHA:1941
HP:0000707	Abnormality of the nervous system	114327	EFHC1	OMIM:254770
HP:0000707	Abnormality of the nervous system	2742	GLRA2	OMIM:301076
HP:0000707	Abnormality of the nervous system	51645	PPIL1	OMIM:619301
HP:0000707	Abnormality of the nervous system	51362	CDC40	OMIM:619302
HP:0000707	Abnormality of the nervous system	27133	KCNH5	OMIM:620537
HP:0000707	Abnormality of the nervous system	22858	CILK1	OMIM:617924
HP:0000707	Abnormality of the nervous system	57094	CPA6	OMIM:614417
HP:0000707	Abnormality of the nervous system	57094	CPA6	OMIM:614418
HP:0000707	Abnormality of the nervous system	9900	SV2A	OMIM:620772
HP:0000707	Abnormality of the nervous system	57526	PCDH19	ORPHA:101039
HP:0000707	Abnormality of the nervous system	57526	PCDH19	OMIM:300088
HP:0000707	Abnormality of the nervous system	5515	PPP2CA	OMIM:618354
HP:0000707	Abnormality of the nervous system	50	ACO2	OMIM:614559
HP:0000707	Abnormality of the nervous system	6301	SARS1	OMIM:617709
HP:0000707	Abnormality of the nervous system	3651	PDX1	ORPHA:99885
HP:0000707	Abnormality of the nervous system	3630	INS	ORPHA:99885
HP:0000707	Abnormality of the nervous system	2891	GRIA2	OMIM:618917
HP:0000707	Abnormality of the nervous system	8869	ST3GAL5	OMIM:609056
HP:0000707	Abnormality of the nervous system	3746	KCNC1	OMIM:616187
HP:0000707	Abnormality of the nervous system	23229	ARHGEF9	OMIM:300607
HP:0000707	Abnormality of the nervous system	3183	HNRNPC	OMIM:620688
HP:0000707	Abnormality of the nervous system	51608	GET4	OMIM:620200
HP:0000707	Abnormality of the nervous system	3431	SP110	ORPHA:79124
HP:0000707	Abnormality of the nervous system	6821	SUOX	OMIM:272300
HP:0000707	Abnormality of the nervous system	57010	CABP4	ORPHA:98784
HP:0000707	Abnormality of the nervous system	1392	CRH	ORPHA:98784
HP:0000707	Abnormality of the nervous system	23258	DENND5A	OMIM:617281
HP:0000707	Abnormality of the nervous system	135	ADORA2A	ORPHA:363549
HP:0000707	Abnormality of the nervous system	23152	CIC	OMIM:617600
HP:0000707	Abnormality of the nervous system	208	AKT2	OMIM:240900
HP:0000707	Abnormality of the nervous system	9256	TSPOAP1	OMIM:620453
HP:0000707	Abnormality of the nervous system	60386	SLC25A19	ORPHA:99742
HP:0000707	Abnormality of the nervous system	64864	RFX7	OMIM:620330
HP:0000707	Abnormality of the nervous system	50801	KCNK4	OMIM:618381
HP:0000707	Abnormality of the nervous system	10771	ZMYND11	OMIM:616083
HP:0000707	Abnormality of the nervous system	8943	AP3D1	OMIM:617050
HP:0000707	Abnormality of the nervous system	37	ACADVL	OMIM:201475
HP:0000707	Abnormality of the nervous system	5281	PIGF	OMIM:619356
HP:0000707	Abnormality of the nervous system	527	ATP6V0C	OMIM:620465
HP:0000707	Abnormality of the nervous system	56910	STARD7	OMIM:607876
HP:0000707	Abnormality of the nervous system	23067	SETD1B	OMIM:619000
HP:0000707	Abnormality of the nervous system	10319	LAMC3	OMIM:614115
HP:0000707	Abnormality of the nervous system	55704	CCDC88A	OMIM:617507
HP:0000707	Abnormality of the nervous system	54676	GTPBP2	OMIM:617988
HP:0000707	Abnormality of the nervous system	1284	COL4A2	OMIM:614483
HP:0000707	Abnormality of the nervous system	8449	DHX16	OMIM:618733
HP:0000707	Abnormality of the nervous system	55753	OGDHL	OMIM:619701
HP:0000707	Abnormality of the nervous system	51601	LIPT1	OMIM:616299
HP:0000707	Abnormality of the nervous system	339453	TMEM240	ORPHA:98773
HP:0000707	Abnormality of the nervous system	339453	TMEM240	OMIM:607454
HP:0000707	Abnormality of the nervous system	27089	UQCRQ	OMIM:615159
HP:0000707	Abnormality of the nervous system	4286	MITF	ORPHA:618
HP:0000707	Abnormality of the nervous system	1019	CDK4	ORPHA:618
HP:0000707	Abnormality of the nervous system	4255	MGMT	ORPHA:618
HP:0000707	Abnormality of the nervous system	54386	TERF2IP	ORPHA:618
HP:0000707	Abnormality of the nervous system	4157	MC1R	ORPHA:618
HP:0000707	Abnormality of the nervous system	65057	ACD	ORPHA:618
HP:0000707	Abnormality of the nervous system	1029	CDKN2A	ORPHA:618
HP:0000707	Abnormality of the nervous system	25913	POT1	ORPHA:618
HP:0000707	Abnormality of the nervous system	80067	DCAF17	OMIM:241080
HP:0000707	Abnormality of the nervous system	39	ACAT2	OMIM:614055
HP:0000707	Abnormality of the nervous system	5700	PSMC1	OMIM:620071
HP:0000707	Abnormality of the nervous system	11338	U2AF2	OMIM:620535
HP:0000707	Abnormality of the nervous system	3350	HTR1A	OMIM:614674
HP:0000707	Abnormality of the nervous system	11145	PLAAT3	OMIM:620683
HP:0000707	Abnormality of the nervous system	92949	ADAMTSL1	ORPHA:521445
HP:0000707	Abnormality of the nervous system	80216	ALPK1	OMIM:614979
HP:0000707	Abnormality of the nervous system	1512	CTSH	ORPHA:2073
HP:0000707	Abnormality of the nervous system	5032	P2RY11	ORPHA:2073
HP:0000707	Abnormality of the nervous system	4340	MOG	ORPHA:2073
HP:0000707	Abnormality of the nervous system	3060	HCRT	ORPHA:2073
HP:0000707	Abnormality of the nervous system	22891	ZNF365	ORPHA:2073
HP:0000707	Abnormality of the nervous system	54148	MRPL39	OMIM:620646
HP:0000707	Abnormality of the nervous system	2624	GATA2	ORPHA:228423
HP:0000707	Abnormality of the nervous system	1453	CSNK1D	OMIM:615224
HP:0000707	Abnormality of the nervous system	1909	EDNRA	OMIM:157300
HP:0000707	Abnormality of the nervous system	2099	ESR1	OMIM:157300
HP:0000707	Abnormality of the nervous system	7124	TNF	OMIM:157300
HP:0000707	Abnormality of the nervous system	338567	KCNK18	OMIM:613656
HP:0000707	Abnormality of the nervous system	5307	PITX1	OMIM:119800
HP:0000707	Abnormality of the nervous system	56603	CYP26B1	OMIM:614416
HP:0000707	Abnormality of the nervous system	57538	ALPK3	OMIM:618052
HP:0000707	Abnormality of the nervous system	7137	TNNI3	OMIM:115210
HP:0000707	Abnormality of the nervous system	4582	MUC1	OMIM:174000
HP:0000707	Abnormality of the nervous system	4791	NFKB2	ORPHA:293978
HP:0000707	Abnormality of the nervous system	54344	DPM3	OMIM:618992
HP:0000707	Abnormality of the nervous system	93183	PIGM	OMIM:610293
HP:0000707	Abnormality of the nervous system	54931	TRMT10C	OMIM:616974
HP:0000707	Abnormality of the nervous system	8320	EOMES	ORPHA:171703
HP:0000707	Abnormality of the nervous system	64801	ARV1	OMIM:617020
HP:0000707	Abnormality of the nervous system	5859	QARS1	OMIM:615760
HP:0000707	Abnormality of the nervous system	1352	COX10	OMIM:619046
HP:0000707	Abnormality of the nervous system	1889	ECE1	OMIM:613870
HP:0000707	Abnormality of the nervous system	2271	FH	OMIM:606812
HP:0000707	Abnormality of the nervous system	777	CACNA1E	OMIM:618285
HP:0000707	Abnormality of the nervous system	738	VPS51	OMIM:618606
HP:0000707	Abnormality of the nervous system	78987	CRELD1	OMIM:620771
HP:0000707	Abnormality of the nervous system	6445	SGCG	ORPHA:353
HP:0000707	Abnormality of the nervous system	1298	COL9A2	OMIM:600204
HP:0000707	Abnormality of the nervous system	2159	F10	ORPHA:328
HP:0000707	Abnormality of the nervous system	81704	DOCK8	OMIM:243700
HP:0000707	Abnormality of the nervous system	4015	LOX	ORPHA:91387
HP:0000707	Abnormality of the nervous system	7043	TGFB3	ORPHA:91387
HP:0000707	Abnormality of the nervous system	5592	PRKG1	ORPHA:91387
HP:0000707	Abnormality of the nervous system	2301	FOXE3	ORPHA:91387
HP:0000707	Abnormality of the nervous system	4144	MAT2A	ORPHA:91387
HP:0000707	Abnormality of the nervous system	23493	HEY2	ORPHA:91387
HP:0000707	Abnormality of the nervous system	8076	MFAP5	ORPHA:91387
HP:0000707	Abnormality of the nervous system	4638	MYLK	ORPHA:91387
HP:0000707	Abnormality of the nervous system	79875	THSD4	ORPHA:91387
HP:0000707	Abnormality of the nervous system	6916	TBXAS1	ORPHA:1802
HP:0000707	Abnormality of the nervous system	89874	SLC25A21	OMIM:618811
HP:0000707	Abnormality of the nervous system	2155	F7	OMIM:227500
HP:0000707	Abnormality of the nervous system	2155	F7	ORPHA:327
HP:0000707	Abnormality of the nervous system	5345	SERPINF2	ORPHA:79
HP:0000707	Abnormality of the nervous system	5054	SERPINE1	ORPHA:465
HP:0000707	Abnormality of the nervous system	3998	LMAN1	ORPHA:35909
HP:0000707	Abnormality of the nervous system	90411	MCFD2	ORPHA:35909
HP:0000707	Abnormality of the nervous system	2162	F13A1	OMIM:613225
HP:0000707	Abnormality of the nervous system	551	AVP	OMIM:125700
HP:0000707	Abnormality of the nervous system	2110	ETFDH	OMIM:231680
HP:0000707	Abnormality of the nervous system	2108	ETFA	OMIM:231680
HP:0000707	Abnormality of the nervous system	2109	ETFB	OMIM:231680
HP:0000707	Abnormality of the nervous system	10060	ABCC9	OMIM:619719
HP:0000707	Abnormality of the nervous system	7222	TRPC3	OMIM:616410
HP:0000707	Abnormality of the nervous system	7222	TRPC3	ORPHA:458798
HP:0000707	Abnormality of the nervous system	4081	MAB21L1	ORPHA:495875
HP:0000707	Abnormality of the nervous system	5443	POMC	OMIM:609734
HP:0000707	Abnormality of the nervous system	5443	POMC	ORPHA:71526
HP:0000707	Abnormality of the nervous system	5122	PCSK1	ORPHA:71528
HP:0000707	Abnormality of the nervous system	55186	SLC25A36	OMIM:620211
HP:0000707	Abnormality of the nervous system	4604	MYBPC1	OMIM:618524
HP:0000707	Abnormality of the nervous system	3026	HABP2	ORPHA:319487
HP:0000707	Abnormality of the nervous system	1629	DBT	OMIM:620699
HP:0000707	Abnormality of the nervous system	708	C1QBP	OMIM:617713
HP:0000707	Abnormality of the nervous system	7143	TNR	OMIM:619653
HP:0000707	Abnormality of the nervous system	203228	C9orf72	OMIM:105550
HP:0000707	Abnormality of the nervous system	10093	ARPC4	OMIM:620141
HP:0000707	Abnormality of the nervous system	57505	AARS2	OMIM:615889
HP:0000707	Abnormality of the nervous system	4884	NPTX1	OMIM:620158
HP:0000707	Abnormality of the nervous system	497661	C18orf32	OMIM:619985
HP:0000707	Abnormality of the nervous system	91461	PKDCC	OMIM:618821
HP:0000707	Abnormality of the nervous system	29928	TIMM22	OMIM:618851
HP:0000707	Abnormality of the nervous system	8496	PPFIBP1	OMIM:620024
HP:0000707	Abnormality of the nervous system	83479	DDX59	OMIM:174300
HP:0000707	Abnormality of the nervous system	51079	NDUFA13	OMIM:618249
HP:0000707	Abnormality of the nervous system	22872	SEC31A	OMIM:618651
HP:0000707	Abnormality of the nervous system	55361	PI4K2A	OMIM:620732
HP:0000707	Abnormality of the nervous system	2746	GLUD1	ORPHA:35878
HP:0000707	Abnormality of the nervous system	55129	ANO10	ORPHA:284289
HP:0000707	Abnormality of the nervous system	23162	MAPK8IP3	OMIM:618443
HP:0000707	Abnormality of the nervous system	8565	YARS1	OMIM:619418
HP:0000707	Abnormality of the nervous system	29071	C1GALT1C1	OMIM:301110
HP:0000707	Abnormality of the nervous system	9230	RAB11B	OMIM:617807
HP:0000707	Abnormality of the nervous system	9247	GCM2	OMIM:618883
HP:0000707	Abnormality of the nervous system	9247	GCM2	ORPHA:2239
HP:0000707	Abnormality of the nervous system	2625	GATA3	ORPHA:2237
HP:0000707	Abnormality of the nervous system	5741	PTH	OMIM:146200
HP:0000707	Abnormality of the nervous system	122622	ADSS1	ORPHA:482601
HP:0000707	Abnormality of the nervous system	1786	DNMT1	ORPHA:314404
HP:0000707	Abnormality of the nervous system	2192	FBLN1	ORPHA:404451
HP:0000707	Abnormality of the nervous system	223117	SEMA3D	ORPHA:388
HP:0000707	Abnormality of the nervous system	10512	SEMA3C	ORPHA:388
HP:0000707	Abnormality of the nervous system	4902	NRTN	ORPHA:388
HP:0000707	Abnormality of the nervous system	4254	KITLG	ORPHA:895
HP:0000707	Abnormality of the nervous system	51501	HIKESHI	OMIM:616881
HP:0000707	Abnormality of the nervous system	25923	ATL3	ORPHA:36386
HP:0000707	Abnormality of the nervous system	9517	SPTLC2	ORPHA:36386
HP:0000707	Abnormality of the nervous system	55679	LIMS2	OMIM:616827
HP:0000707	Abnormality of the nervous system	658	BMPR1B	OMIM:616849
HP:0000707	Abnormality of the nervous system	7175	TPR	OMIM:620393
HP:0000707	Abnormality of the nervous system	50964	SOST	OMIM:269500
HP:0000707	Abnormality of the nervous system	50964	SOST	OMIM:122860
HP:0000707	Abnormality of the nervous system	8974	P4HA2	ORPHA:397
HP:0000707	Abnormality of the nervous system	7428	VHL	OMIM:263400
HP:0000707	Abnormality of the nervous system	7428	VHL	ORPHA:892
HP:0000707	Abnormality of the nervous system	85446	ZFHX2	OMIM:147430
HP:0000707	Abnormality of the nervous system	54790	TET2	ORPHA:98849
HP:0000707	Abnormality of the nervous system	54790	TET2	ORPHA:3318
HP:0000707	Abnormality of the nervous system	6427	SRSF2	ORPHA:98849
HP:0000707	Abnormality of the nervous system	324	APC	ORPHA:99818
HP:0000707	Abnormality of the nervous system	9881	TRANK1	ORPHA:33543
HP:0000707	Abnormality of the nervous system	7132	TNFRSF1A	OMIM:142680
HP:0000707	Abnormality of the nervous system	1277	COL1A1	ORPHA:287
HP:0000707	Abnormality of the nervous system	1289	COL5A1	ORPHA:287
HP:0000707	Abnormality of the nervous system	1290	COL5A2	ORPHA:287
HP:0000707	Abnormality of the nervous system	1175	AP2S1	OMIM:600740
HP:0000707	Abnormality of the nervous system	4853	NOTCH2	ORPHA:955
HP:0000707	Abnormality of the nervous system	10019	SH2B3	OMIM:133100
HP:0000707	Abnormality of the nervous system	10019	SH2B3	ORPHA:3318
HP:0000707	Abnormality of the nervous system	2057	EPOR	OMIM:133100
HP:0000707	Abnormality of the nervous system	2057	EPOR	ORPHA:90042
HP:0000707	Abnormality of the nervous system	30813	VSX1	OMIM:614195
HP:0000707	Abnormality of the nervous system	9493	KIF23	ORPHA:98870
HP:0000707	Abnormality of the nervous system	29127	RACGAP1	ORPHA:98870
HP:0000707	Abnormality of the nervous system	81839	VANGL1	OMIM:600145
HP:0000707	Abnormality of the nervous system	811	CALR	ORPHA:3318
HP:0000707	Abnormality of the nervous system	9573	GDF3	ORPHA:2345
HP:0000707	Abnormality of the nervous system	4222	MEOX1	ORPHA:2345
HP:0000707	Abnormality of the nervous system	165918	RNF168	ORPHA:420741
HP:0000707	Abnormality of the nervous system	1188	CLCNKB	ORPHA:358
HP:0000707	Abnormality of the nervous system	4088	SMAD3	ORPHA:284984
HP:0000707	Abnormality of the nervous system	1991	ELANE	ORPHA:2686
HP:0000707	Abnormality of the nervous system	9663	LPIN2	ORPHA:77297
HP:0000707	Abnormality of the nervous system	84196	USP48	ORPHA:96253
HP:0000707	Abnormality of the nervous system	9101	USP8	ORPHA:96253
HP:0000707	Abnormality of the nervous system	2908	NR3C1	ORPHA:96253
HP:0000707	Abnormality of the nervous system	51116	MRPS2	OMIM:617950
HP:0000707	Abnormality of the nervous system	1181	CLCN2	OMIM:615651
HP:0000707	Abnormality of the nervous system	1181	CLCN2	ORPHA:404
HP:0000707	Abnormality of the nervous system	4128	MAOA	OMIM:300615
HP:0000707	Abnormality of the nervous system	4878	NPPA	ORPHA:1344
HP:0000707	Abnormality of the nervous system	55107	ANO1	OMIM:620687
HP:0000707	Abnormality of the nervous system	2077	ERF	ORPHA:207
HP:0000707	Abnormality of the nervous system	8792	TNFRSF11A	OMIM:602080
HP:0000707	Abnormality of the nervous system	27019	DNAI1	OMIM:244400
HP:0000707	Abnormality of the nervous system	4041	LRP5	ORPHA:178377
HP:0000707	Abnormality of the nervous system	4041	LRP5	OMIM:607634
HP:0000707	Abnormality of the nervous system	27349	MCAT	OMIM:620583
HP:0000707	Abnormality of the nervous system	151	ADRA2B	ORPHA:86814
HP:0000707	Abnormality of the nervous system	1501	CTNND2	ORPHA:86814
HP:0000707	Abnormality of the nervous system	10299	MARCHF6	ORPHA:86814
HP:0000707	Abnormality of the nervous system	6900	CNTN2	ORPHA:86814
HP:0000707	Abnormality of the nervous system	401474	SAMD12	ORPHA:86814
HP:0000707	Abnormality of the nervous system	4780	NFE2L2	OMIM:617744
HP:0000707	Abnormality of the nervous system	3426	CFI	ORPHA:244242
HP:0000707	Abnormality of the nervous system	4179	CD46	ORPHA:244242
HP:0000707	Abnormality of the nervous system	101101692	HELLPAR	ORPHA:244242
HP:0000707	Abnormality of the nervous system	91662	NLRP12	OMIM:611762
HP:0000707	Abnormality of the nervous system	23516	SLC39A14	OMIM:144755
HP:0000707	Abnormality of the nervous system	595	CCND1	ORPHA:892
HP:0000707	Abnormality of the nervous system	1027	CDKN1B	ORPHA:652
HP:0000707	Abnormality of the nervous system	1026	CDKN1A	ORPHA:652
HP:0000707	Abnormality of the nervous system	1030	CDKN2B	ORPHA:652
HP:0000707	Abnormality of the nervous system	1031	CDKN2C	ORPHA:652
HP:0000707	Abnormality of the nervous system	9365	KL	OMIM:617994
HP:0000707	Abnormality of the nervous system	1584	CYP11B1	ORPHA:403
HP:0000707	Abnormality of the nervous system	1585	CYP11B2	ORPHA:403
HP:0000707	Abnormality of the nervous system	587	BCAT2	OMIM:618850
HP:0000707	Abnormality of the nervous system	4067	LYN	OMIM:620376
HP:0000707	Abnormality of the nervous system	6442	SGCA	OMIM:608099
HP:0000707	Abnormality of the nervous system	81788	NUAK2	OMIM:619452
HP:0000707	Abnormality of the nervous system	3239	HOXD13	ORPHA:887
HP:0000707	Abnormality of the nervous system	7067	THRA	OMIM:614450
HP:0000707	Abnormality of the nervous system	1743	DLST	ORPHA:29072
HP:0000707	Abnormality of the nervous system	8402	SLC25A11	ORPHA:29072
HP:0000707	Abnormality of the nervous system	54949	SDHAF2	ORPHA:29072
HP:0000707	Abnormality of the nervous system	55654	TMEM127	ORPHA:29072
HP:0000707	Abnormality of the nervous system	4149	MAX	ORPHA:29072
HP:0000707	Abnormality of the nervous system	2034	EPAS1	ORPHA:276621
HP:0000707	Abnormality of the nervous system	10765	KDM5B	OMIM:618109
HP:0000707	Abnormality of the nervous system	10586	MAB21L2	OMIM:615877
HP:0000707	Abnormality of the nervous system	8812	CCNK	OMIM:618147
HP:0000707	Abnormality of the nervous system	9918	NCAPD2	OMIM:617983
HP:0000707	Abnormality of the nervous system	55755	CDK5RAP2	OMIM:604804
HP:0000707	Abnormality of the nervous system	23397	NCAPH	OMIM:617985
HP:0000707	Abnormality of the nervous system	23780	APOL2	OMIM:181500
HP:0000707	Abnormality of the nervous system	267012	DAOA	OMIM:181500
HP:0000707	Abnormality of the nervous system	3356	HTR2A	OMIM:181500
HP:0000707	Abnormality of the nervous system	6854	SYN2	OMIM:181500
HP:0000707	Abnormality of the nervous system	1814	DRD3	OMIM:181500
HP:0000707	Abnormality of the nervous system	27184	DISC2	OMIM:181500
HP:0000707	Abnormality of the nervous system	65078	RTN4R	OMIM:181500
HP:0000707	Abnormality of the nervous system	80832	APOL4	OMIM:181500
HP:0000707	Abnormality of the nervous system	1116	CHI3L1	OMIM:181500
HP:0000707	Abnormality of the nervous system	23511	NUP188	OMIM:618804
HP:0000707	Abnormality of the nervous system	23135	KDM6B	OMIM:618505
HP:0000707	Abnormality of the nervous system	9690	UBE3C	OMIM:620270
HP:0000707	Abnormality of the nervous system	7021	TFAP2B	ORPHA:46627
HP:0000707	Abnormality of the nervous system	790955	UQCC3	OMIM:616111
HP:0000707	Abnormality of the nervous system	57459	GATAD2B	ORPHA:363686
HP:0000707	Abnormality of the nervous system	256471	MFSD8	OMIM:610951
HP:0000707	Abnormality of the nervous system	5836	PYGL	ORPHA:369
HP:0000707	Abnormality of the nervous system	3067	HDC	OMIM:137580
HP:0000707	Abnormality of the nervous system	114798	SLITRK1	OMIM:137580
HP:0000707	Abnormality of the nervous system	284361	EMC10	OMIM:619264
HP:0000707	Abnormality of the nervous system	10269	ZMPSTE24	ORPHA:740
HP:0000707	Abnormality of the nervous system	51021	MRPS16	OMIM:610498
HP:0000707	Abnormality of the nervous system	55037	PTCD3	OMIM:619057
HP:0000707	Abnormality of the nervous system	100303755	PET117	OMIM:619063
HP:0000707	Abnormality of the nervous system	1327	COX4I1	OMIM:619060
HP:0000707	Abnormality of the nervous system	122961	ISCA2	OMIM:616370
HP:0000707	Abnormality of the nervous system	10463	SLC30A9	OMIM:617595
HP:0000707	Abnormality of the nervous system	959	CD40LG	OMIM:308230
HP:0000707	Abnormality of the nervous system	341208	HEPHL1	OMIM:261990
HP:0000707	Abnormality of the nervous system	25886	POC1A	OMIM:614813
HP:0000707	Abnormality of the nervous system	6772	STAT1	ORPHA:391487
HP:0000707	Abnormality of the nervous system	9419	CRIPT	OMIM:615789
HP:0000707	Abnormality of the nervous system	8815	BANF1	OMIM:614008
HP:0000707	Abnormality of the nervous system	9080	CLDN9	OMIM:619093
HP:0000707	Abnormality of the nervous system	23646	PLD3	OMIM:617770
HP:0000707	Abnormality of the nervous system	5357	PLS1	OMIM:618787
HP:0000707	Abnormality of the nervous system	5457	POU4F1	ORPHA:314647
HP:0000707	Abnormality of the nervous system	8566	PDXK	OMIM:618511
HP:0000707	Abnormality of the nervous system	9750	RIPOR2	OMIM:616515
HP:0000707	Abnormality of the nervous system	3569	IL6	OMIM:108010
HP:0000707	Abnormality of the nervous system	55521	TRIM36	OMIM:206500
HP:0000707	Abnormality of the nervous system	7476	WNT7A	ORPHA:2879
HP:0000707	Abnormality of the nervous system	7054	TH	ORPHA:101150
HP:0000707	Abnormality of the nervous system	2153	F5	ORPHA:131
HP:0000707	Abnormality of the nervous system	3594	IL12RB1	ORPHA:186
HP:0000707	Abnormality of the nervous system	6689	SPIB	ORPHA:186
HP:0000707	Abnormality of the nervous system	5450	POU2AF1	ORPHA:186
HP:0000707	Abnormality of the nervous system	9966	TNFSF15	ORPHA:186
HP:0000707	Abnormality of the nervous system	79258	MMEL1	ORPHA:186
HP:0000707	Abnormality of the nervous system	60561	RINT1	OMIM:618641
HP:0000707	Abnormality of the nervous system	54914	FOCAD	OMIM:619991
HP:0000707	Abnormality of the nervous system	7289	TULP3	OMIM:619902
HP:0000707	Abnormality of the nervous system	4068	SH2D1A	OMIM:308240
HP:0000707	Abnormality of the nervous system	331	XIAP	OMIM:308240
HP:0000707	Abnormality of the nervous system	84665	MYPN	ORPHA:171439
HP:0000707	Abnormality of the nervous system	390594	KBTBD13	ORPHA:171439
HP:0000707	Abnormality of the nervous system	6712	SPTBN2	OMIM:600224
HP:0000707	Abnormality of the nervous system	55131	RBM28	OMIM:612079
HP:0000707	Abnormality of the nervous system	146227	BEAN1	ORPHA:217012
HP:0000707	Abnormality of the nervous system	56983	POGLUT1	OMIM:617232
HP:0000707	Abnormality of the nervous system	4353	MPO	OMIM:104300
HP:0000707	Abnormality of the nervous system	5328	PLAU	OMIM:104300
HP:0000707	Abnormality of the nervous system	3394	IRF8	OMIM:226990
HP:0000707	Abnormality of the nervous system	6606	SMN1	OMIM:271150
HP:0000707	Abnormality of the nervous system	1297	COL9A1	ORPHA:166002
HP:0000707	Abnormality of the nervous system	1300	COL10A1	ORPHA:174
HP:0000707	Abnormality of the nervous system	1300	COL10A1	OMIM:156500
HP:0000707	Abnormality of the nervous system	9241	NOG	OMIM:186500
HP:0000707	Abnormality of the nervous system	2335	FN1	OMIM:184255
HP:0000707	Abnormality of the nervous system	8720	MBTPS1	OMIM:618392
HP:0000707	Abnormality of the nervous system	6569	SLC34A1	ORPHA:157215
HP:0000707	Abnormality of the nervous system	158326	FREM1	ORPHA:3366
HP:0000707	Abnormality of the nervous system	374393	FAM111B	OMIM:615704
HP:0000707	Abnormality of the nervous system	64208	POPDC3	OMIM:618848
HP:0000707	Abnormality of the nervous system	5826	ABCD4	OMIM:614857
HP:0000707	Abnormality of the nervous system	5479	PPIB	OMIM:259440
HP:0000707	Abnormality of the nervous system	4160	MC4R	ORPHA:71529
HP:0000707	Abnormality of the nervous system	4160	MC4R	OMIM:618406
HP:0000707	Abnormality of the nervous system	4913	NTHL1	ORPHA:454840
HP:0000707	Abnormality of the nervous system	4913	NTHL1	OMIM:616415
HP:0000707	Abnormality of the nervous system	7486	WRN	ORPHA:902
HP:0000707	Abnormality of the nervous system	7486	WRN	OMIM:277700
HP:0000707	Abnormality of the nervous system	6452	SH3BP2	ORPHA:184
HP:0000707	Abnormality of the nervous system	150	ADRA2A	OMIM:620679
HP:0000707	Abnormality of the nervous system	59341	TRPV4	OMIM:606071
HP:0000707	Abnormality of the nervous system	59341	TRPV4	OMIM:181405
HP:0000707	Abnormality of the nervous system	80821	DDHD1	OMIM:609340
HP:0000707	Abnormality of the nervous system	4311	MME	OMIM:617018
HP:0000707	Abnormality of the nervous system	4311	MME	OMIM:617017
HP:0000707	Abnormality of the nervous system	4311	MME	ORPHA:497764
HP:0000707	Abnormality of the nervous system	10516	FBLN5	OMIM:608895
HP:0000707	Abnormality of the nervous system	10516	FBLN5	OMIM:619764
HP:0000707	Abnormality of the nervous system	56704	JPH1	OMIM:607831
HP:0000707	Abnormality of the nervous system	90678	LRSAM1	OMIM:614436
HP:0000707	Abnormality of the nervous system	81846	SBF2	OMIM:604563
HP:0000707	Abnormality of the nervous system	81846	SBF2	ORPHA:99956
HP:0000707	Abnormality of the nervous system	219285	SAMD9L	OMIM:159550
HP:0000707	Abnormality of the nervous system	8888	MCM3AP	OMIM:618124
HP:0000707	Abnormality of the nervous system	463	ZFHX3	OMIM:600223
HP:0000707	Abnormality of the nervous system	26090	ABHD12	OMIM:612674
HP:0000707	Abnormality of the nervous system	121512	FGD4	OMIM:609311
HP:0000707	Abnormality of the nervous system	4000	LMNA	OMIM:605588
HP:0000707	Abnormality of the nervous system	4000	LMNA	ORPHA:98856
HP:0000707	Abnormality of the nervous system	65260	COA7	OMIM:618387
HP:0000707	Abnormality of the nervous system	8898	MTMR2	OMIM:601382
HP:0000707	Abnormality of the nervous system	6305	SBF1	OMIM:615284
HP:0000707	Abnormality of the nervous system	55958	KLHL9	ORPHA:399081
HP:0000707	Abnormality of the nervous system	5375	PMP2	OMIM:618279
HP:0000707	Abnormality of the nervous system	9516	LITAF	OMIM:601098
HP:0000707	Abnormality of the nervous system	3094	HINT1	OMIM:137200
HP:0000707	Abnormality of the nervous system	3300	DNAJB2	OMIM:614881
HP:0000707	Abnormality of the nervous system	8139	GAN	ORPHA:643
HP:0000707	Abnormality of the nervous system	8139	GAN	OMIM:256850
HP:0000707	Abnormality of the nervous system	26353	HSPB8	OMIM:608673
HP:0000707	Abnormality of the nervous system	79628	SH3TC2	OMIM:601596
HP:0000707	Abnormality of the nervous system	59345	GNB4	OMIM:615185
HP:0000707	Abnormality of the nervous system	3508	IGHMBP2	OMIM:616155
HP:0000707	Abnormality of the nervous system	57716	PRX	OMIM:614895
HP:0000707	Abnormality of the nervous system	57716	PRX	OMIM:145900
HP:0000707	Abnormality of the nervous system	8729	GBF1	OMIM:606483
HP:0000707	Abnormality of the nervous system	256646	NUTM1	ORPHA:443167
HP:0000707	Abnormality of the nervous system	3166	HMX1	OMIM:612109
HP:0000707	Abnormality of the nervous system	9639	ARHGEF10	OMIM:608236
HP:0000707	Abnormality of the nervous system	10126	DNAL4	ORPHA:238722
HP:0000707	Abnormality of the nervous system	9423	NTN1	ORPHA:238722
HP:0000707	Abnormality of the nervous system	3939	LDHA	ORPHA:284426
HP:0000707	Abnormality of the nervous system	5913	RAPSN	OMIM:616326
HP:0000707	Abnormality of the nervous system	5913	RAPSN	ORPHA:98913
HP:0000707	Abnormality of the nervous system	8988	HSPB3	OMIM:613376
HP:0000707	Abnormality of the nervous system	55280	CWF19L1	OMIM:616127
HP:0000707	Abnormality of the nervous system	64419	MTMR14	OMIM:160150
HP:0000707	Abnormality of the nervous system	1785	DNM2	OMIM:160150
HP:0000707	Abnormality of the nervous system	8838	CCN6	ORPHA:1159
HP:0000707	Abnormality of the nervous system	5573	PRKAR1A	ORPHA:615
HP:0000707	Abnormality of the nervous system	4038	LRP4	ORPHA:98913
HP:0000707	Abnormality of the nervous system	1140	CHRNB1	ORPHA:98913
HP:0000707	Abnormality of the nervous system	1140	CHRNB1	OMIM:616313
HP:0000707	Abnormality of the nervous system	221264	AK9	ORPHA:98913
HP:0000707	Abnormality of the nervous system	7234	TRU-TCA1-1	OMIM:620198
HP:0000707	Abnormality of the nervous system	57104	PNPLA2	OMIM:610717
HP:0000707	Abnormality of the nervous system	57104	PNPLA2	ORPHA:98908
HP:0000707	Abnormality of the nervous system	50515	CHST11	OMIM:618167
HP:0000707	Abnormality of the nervous system	55033	FKBP14	ORPHA:300179
HP:0000707	Abnormality of the nervous system	79572	ATP13A3	OMIM:265400
HP:0000707	Abnormality of the nervous system	5213	PFKM	OMIM:232800
HP:0000707	Abnormality of the nervous system	55750	AGK	OMIM:212350
HP:0000707	Abnormality of the nervous system	23479	ISCU	OMIM:255125
HP:0000707	Abnormality of the nervous system	844	CASQ1	OMIM:616231
HP:0000707	Abnormality of the nervous system	9531	BAG3	OMIM:612954
HP:0000707	Abnormality of the nervous system	6786	STIM1	OMIM:160565
HP:0000707	Abnormality of the nervous system	6472	SHMT2	OMIM:619121
HP:0000707	Abnormality of the nervous system	6911	TBX6	OMIM:122600
HP:0000707	Abnormality of the nervous system	6399	TRAPPC2	ORPHA:93284
HP:0000707	Abnormality of the nervous system	9630	GNA14	ORPHA:1063
HP:0000707	Abnormality of the nervous system	64856	VWA1	OMIM:619216
HP:0000707	Abnormality of the nervous system	7389	UROD	ORPHA:95159
HP:0000707	Abnormality of the nervous system	7390	UROS	ORPHA:79277
HP:0000707	Abnormality of the nervous system	221496	LEMD2	OMIM:619322
HP:0000707	Abnormality of the nervous system	59344	ALOXE3	OMIM:242100
HP:0000707	Abnormality of the nervous system	242	ALOX12B	OMIM:242100
HP:0000707	Abnormality of the nervous system	590	BCHE	ORPHA:132
HP:0000707	Abnormality of the nervous system	100134444	KCNJ18	ORPHA:79102
HP:0000707	Abnormality of the nervous system	779	CACNA1S	ORPHA:79102
HP:0000707	Abnormality of the nervous system	779	CACNA1S	ORPHA:681
HP:0000707	Abnormality of the nervous system	10008	KCNE3	ORPHA:681
HP:0000707	Abnormality of the nervous system	8456	FOXN1	ORPHA:83471
HP:0000707	Abnormality of the nervous system	8675	STX16	ORPHA:94089
HP:0000707	Abnormality of the nervous system	10568	SLC34A2	ORPHA:60025
HP:0000707	Abnormality of the nervous system	3475	IFRD1	ORPHA:98771
HP:0000707	Abnormality of the nervous system	7840	ALMS1	ORPHA:64
HP:0000707	Abnormality of the nervous system	80207	OPA3	ORPHA:67036
HP:0000707	Abnormality of the nervous system	7879	RAB7A	OMIM:600882
HP:0000707	Abnormality of the nervous system	5264	PHYH	OMIM:266500
HP:0000707	Abnormality of the nervous system	3035	HARS1	ORPHA:488333
HP:0000707	Abnormality of the nervous system	487	ATP2A1	OMIM:601003
HP:0000707	Abnormality of the nervous system	57449	PLEKHG5	OMIM:615376
HP:0000707	Abnormality of the nervous system	2694	CBLIF	OMIM:261000
HP:0000707	Abnormality of the nervous system	4141	MARS1	OMIM:620323
HP:0000707	Abnormality of the nervous system	57410	SCYL1	ORPHA:466794
HP:0000707	Abnormality of the nervous system	10397	NDRG1	ORPHA:99950
HP:0000707	Abnormality of the nervous system	55526	DHTKD1	OMIM:615025
HP:0000707	Abnormality of the nervous system	55154	MSTO1	ORPHA:502423
HP:0000707	Abnormality of the nervous system	9927	MFN2	ORPHA:99947
HP:0000707	Abnormality of the nervous system	5376	PMP22	ORPHA:3115
HP:0000707	Abnormality of the nervous system	60481	ELOVL5	ORPHA:423296
HP:0000707	Abnormality of the nervous system	23769	FLRT1	ORPHA:320406
HP:0000707	Abnormality of the nervous system	64837	KLC2	ORPHA:320406
HP:0000707	Abnormality of the nervous system	50717	DCAF8	OMIM:610100
HP:0000707	Abnormality of the nervous system	19	ABCA1	OMIM:205400
HP:0000707	Abnormality of the nervous system	19	ABCA1	ORPHA:31150
HP:0000707	Abnormality of the nervous system	274	BIN1	ORPHA:169189
HP:0000707	Abnormality of the nervous system	4618	MYF6	ORPHA:169189
HP:0000707	Abnormality of the nervous system	23321	TRIM2	OMIM:615490
HP:0000707	Abnormality of the nervous system	5351	PLOD1	ORPHA:1900
HP:0000707	Abnormality of the nervous system	2064	ERBB2	OMIM:619465
HP:0000707	Abnormality of the nervous system	113612	CYP2U1	OMIM:615030
HP:0000707	Abnormality of the nervous system	113612	CYP2U1	ORPHA:320411
HP:0000707	Abnormality of the nervous system	80347	COASY	ORPHA:397725
HP:0000707	Abnormality of the nervous system	9147	NEMF	OMIM:619099
HP:0000707	Abnormality of the nervous system	3852	KRT5	ORPHA:79400
HP:0000707	Abnormality of the nervous system	3861	KRT14	ORPHA:79400
HP:0000707	Abnormality of the nervous system	10058	ABCB6	OMIM:609153
HP:0000707	Abnormality of the nervous system	54112	GPR88	OMIM:616939
HP:0000707	Abnormality of the nervous system	6857	SYT1	OMIM:618218
HP:0000707	Abnormality of the nervous system	4665	NAB2	ORPHA:2126
HP:0000707	Abnormality of the nervous system	6778	STAT6	ORPHA:2126
HP:0000707	Abnormality of the nervous system	4613	MYCN	ORPHA:635
HP:0000707	Abnormality of the nervous system	389421	LIN28B	ORPHA:635
HP:0000707	Abnormality of the nervous system	4004	LMO1	ORPHA:635
HP:0000707	Abnormality of the nervous system	8643	PTCH2	ORPHA:377
HP:0000707	Abnormality of the nervous system	3972	LHB	OMIM:228300
HP:0000707	Abnormality of the nervous system	10011	SRA1	OMIM:146110
HP:0000707	Abnormality of the nervous system	2796	GNRH1	OMIM:146110
HP:0000707	Abnormality of the nervous system	558	AXL	OMIM:146110
HP:0000707	Abnormality of the nervous system	2798	GNRHR	OMIM:146110
HP:0000707	Abnormality of the nervous system	2488	FSHB	OMIM:229070
HP:0000707	Abnormality of the nervous system	10194	TSHZ1	OMIM:607842
HP:0000707	Abnormality of the nervous system	5781	PTPN11	OMIM:151100
HP:0000707	Abnormality of the nervous system	1656	DDX6	OMIM:618653
HP:0000707	Abnormality of the nervous system	11315	PARK7	ORPHA:2828
HP:0000707	Abnormality of the nervous system	65018	PINK1	ORPHA:2828
HP:0000707	Abnormality of the nervous system	5071	PRKN	ORPHA:2828
HP:0000707	Abnormality of the nervous system	9381	OTOF	OMIM:601071
HP:0000707	Abnormality of the nervous system	3952	LEP	ORPHA:66628
HP:0000707	Abnormality of the nervous system	5589	PRKCSH	OMIM:174050
HP:0000707	Abnormality of the nervous system	5589	PRKCSH	ORPHA:2924
HP:0000707	Abnormality of the nervous system	11231	SEC63	ORPHA:2924
HP:0000707	Abnormality of the nervous system	335	APOA1	OMIM:620657
HP:0000707	Abnormality of the nervous system	10621	POLR3F	OMIM:619872
HP:0000707	Abnormality of the nervous system	54543	TOMM7	OMIM:620601
HP:0000707	Abnormality of the nervous system	58472	SQOR	OMIM:619221
HP:0000707	Abnormality of the nervous system	318	NUDT2	OMIM:619844
HP:0000707	Abnormality of the nervous system	5010	CLDN11	OMIM:619328
HP:0000707	Abnormality of the nervous system	2184	FAH	OMIM:276700
HP:0000707	Abnormality of the nervous system	284252	KCTD1	OMIM:181270
HP:0000707	Abnormality of the nervous system	81624	DIAPH3	OMIM:609129
HP:0000707	Abnormality of the nervous system	1075	CTSC	OMIM:245000
HP:0000707	Abnormality of the nervous system	8864	PER2	OMIM:604348
HP:0000707	Abnormality of the nervous system	30011	SH3KBP1	OMIM:300310
HP:0000707	Abnormality of the nervous system	2583	B4GALNT1	ORPHA:101006
HP:0000707	Abnormality of the nervous system	9439	MED23	OMIM:614249
HP:0000707	Abnormality of the nervous system	4897	NRCAM	OMIM:619833
HP:0000707	Abnormality of the nervous system	9817	KEAP1	ORPHA:276399
HP:0000707	Abnormality of the nervous system	5521	PPP2R2B	OMIM:604326
HP:0000707	Abnormality of the nervous system	5521	PPP2R2B	ORPHA:98762
HP:0000707	Abnormality of the nervous system	28958	COA3	OMIM:619058
HP:0000707	Abnormality of the nervous system	112812	FDX2	OMIM:251900
HP:0000707	Abnormality of the nervous system	191	AHCY	ORPHA:88618
HP:0000707	Abnormality of the nervous system	4361	MRE11	ORPHA:251347
HP:0000707	Abnormality of the nervous system	7317	UBA1	ORPHA:1145
HP:0000707	Abnormality of the nervous system	54974	THG1L	OMIM:618800
HP:0000707	Abnormality of the nervous system	714	C1QC	OMIM:620322
HP:0000707	Abnormality of the nervous system	3561	IL2RG	OMIM:300400
HP:0000707	Abnormality of the nervous system	176	ACAN	ORPHA:435804
HP:0000707	Abnormality of the nervous system	51083	GAL	OMIM:616461
HP:0000707	Abnormality of the nervous system	57107	PDSS2	OMIM:614652
HP:0000707	Abnormality of the nervous system	7277	TUBA4A	OMIM:616208
HP:0000707	Abnormality of the nervous system	57176	VARS2	OMIM:615917
HP:0000707	Abnormality of the nervous system	5917	RARS1	ORPHA:438114
HP:0000707	Abnormality of the nervous system	1353	COX11	OMIM:620275
HP:0000707	Abnormality of the nervous system	6844	VAMP2	OMIM:618760
HP:0000707	Abnormality of the nervous system	340665	CYP26C1	ORPHA:398189
HP:0000707	Abnormality of the nervous system	8789	FBP2	OMIM:619864
HP:0000707	Abnormality of the nervous system	5442	POLRMT	OMIM:619743
HP:0000707	Abnormality of the nervous system	5833	PCYT2	OMIM:618770
HP:0000707	Abnormality of the nervous system	23265	EXOC7	OMIM:619072
HP:0000707	Abnormality of the nervous system	23154	NCDN	OMIM:619373
HP:0000707	Abnormality of the nervous system	1315	COPB1	OMIM:619255
HP:0000707	Abnormality of the nervous system	2801	GOLGA2	OMIM:620240
HP:0000707	Abnormality of the nervous system	1468	SLC25A10	OMIM:618972
HP:0000707	Abnormality of the nervous system	27238	GPKOW	ORPHA:2570
HP:0000707	Abnormality of the nervous system	389692	MAFA	OMIM:147630
HP:0000707	Abnormality of the nervous system	3547	IGSF1	OMIM:300888
HP:0000707	Abnormality of the nervous system	1730	DIAPH2	OMIM:300511
HP:0000707	Abnormality of the nervous system	2100	ESR2	OMIM:618187
HP:0000707	Abnormality of the nervous system	147872	KASH5	OMIM:620548
HP:0000707	Abnormality of the nervous system	84515	MCM8	OMIM:612885
HP:0000707	Abnormality of the nervous system	317761	C14orf39	OMIM:619203
HP:0000707	Abnormality of the nervous system	164045	HFM1	OMIM:615724
HP:0000707	Abnormality of the nervous system	84690	SPATA22	OMIM:621002
HP:0000707	Abnormality of the nervous system	254394	MCM9	OMIM:616185
HP:0000707	Abnormality of the nervous system	221711	SYCP2L	OMIM:620840
HP:0000707	Abnormality of the nervous system	84733	CBX2	OMIM:613080
HP:0000707	Abnormality of the nervous system	93953	GCNA	OMIM:301077
HP:0000707	Abnormality of the nervous system	2661	GDF9	OMIM:618014
HP:0000707	Abnormality of the nervous system	344018	FIGLA	OMIM:612310
HP:0000707	Abnormality of the nervous system	78995	HROB	OMIM:620897
HP:0000707	Abnormality of the nervous system	1690	COCH	OMIM:601369
HP:0000707	Abnormality of the nervous system	4437	MSH3	OMIM:617100
HP:0000707	Abnormality of the nervous system	4437	MSH3	ORPHA:480536
HP:0000707	Abnormality of the nervous system	2303	FOXC2	ORPHA:33001
HP:0000707	Abnormality of the nervous system	10749	KIF1C	ORPHA:397946
HP:0000707	Abnormality of the nervous system	4099	MAG	OMIM:616680
HP:0000707	Abnormality of the nervous system	55532	SLC30A10	ORPHA:309854
HP:0000707	Abnormality of the nervous system	7148	TNXB	ORPHA:230839
HP:0000707	Abnormality of the nervous system	5165	PDK3	OMIM:300905
HP:0000707	Abnormality of the nervous system	80270	HSD3B7	ORPHA:79301
HP:0000707	Abnormality of the nervous system	162	AP1B1	OMIM:242150
HP:0000707	Abnormality of the nervous system	162	AP1B1	ORPHA:171851
HP:0000707	Abnormality of the nervous system	2200	FBN1	ORPHA:2833
HP:0000707	Abnormality of the nervous system	2200	FBN1	OMIM:184900
HP:0000707	Abnormality of the nervous system	55699	IARS2	ORPHA:436174
HP:0000707	Abnormality of the nervous system	55699	IARS2	OMIM:616007
HP:0000707	Abnormality of the nervous system	823	CAPN1	OMIM:616907
HP:0000707	Abnormality of the nervous system	823	CAPN1	ORPHA:488594
HP:0000707	Abnormality of the nervous system	343641	TGM6	ORPHA:276193
HP:0000707	Abnormality of the nervous system	7274	TTPA	ORPHA:96
HP:0000707	Abnormality of the nervous system	23203	PMPCA	ORPHA:1170
HP:0000707	Abnormality of the nervous system	9907	AP5Z1	OMIM:613647
HP:0000707	Abnormality of the nervous system	9907	AP5Z1	ORPHA:306511
HP:0000707	Abnormality of the nervous system	1174	AP1S1	OMIM:609313
HP:0000707	Abnormality of the nervous system	1174	AP1S1	ORPHA:171851
HP:0000707	Abnormality of the nervous system	54332	GDAP1	OMIM:608340
HP:0000707	Abnormality of the nervous system	2243	FGA	OMIM:105200
HP:0000707	Abnormality of the nervous system	10804	GJB6	ORPHA:477
HP:0000707	Abnormality of the nervous system	2706	GJB2	ORPHA:477
HP:0000707	Abnormality of the nervous system	10801	SEPTIN9	OMIM:162100
HP:0000707	Abnormality of the nervous system	10801	SEPTIN9	ORPHA:2901
HP:0000707	Abnormality of the nervous system	57863	CADM3	OMIM:619519
HP:0000707	Abnormality of the nervous system	7454	WAS	ORPHA:906
HP:0000707	Abnormality of the nervous system	7456	WIPF1	ORPHA:906
HP:0000707	Abnormality of the nervous system	4539	MT-ND4L	ORPHA:104
HP:0000707	Abnormality of the nervous system	25894	PLEKHG4	ORPHA:98765
HP:0000707	Abnormality of the nervous system	23095	KIF1B	OMIM:118210
HP:0000707	Abnormality of the nervous system	83636	C19orf12	OMIM:615043
HP:0000707	Abnormality of the nervous system	6288	SAA1	ORPHA:85445
HP:0000707	Abnormality of the nervous system	2729	GCLC	ORPHA:33574
HP:0000707	Abnormality of the nervous system	11117	EMILIN1	OMIM:620080
HP:0000707	Abnormality of the nervous system	4677	NARS1	OMIM:619091
HP:0000707	Abnormality of the nervous system	4677	NARS1	OMIM:619092
HP:0000707	Abnormality of the nervous system	654	BMP6	ORPHA:465508
HP:0000707	Abnormality of the nervous system	3077	HFE	ORPHA:465508
HP:0000707	Abnormality of the nervous system	404672	GTF2H5	ORPHA:33364
HP:0000707	Abnormality of the nervous system	7737	RNF113A	ORPHA:33364
HP:0000707	Abnormality of the nervous system	136647	MPLKIP	ORPHA:33364
HP:0000707	Abnormality of the nervous system	6897	TARS1	ORPHA:33364
HP:0000707	Abnormality of the nervous system	2961	GTF2E2	ORPHA:33364
HP:0000707	Abnormality of the nervous system	4615	MYD88	ORPHA:33226
HP:0000707	Abnormality of the nervous system	65125	WNK1	OMIM:201300
HP:0000707	Abnormality of the nervous system	54463	RETREG1	OMIM:201300
HP:0000707	Abnormality of the nervous system	1337	COX6A1	OMIM:616039
HP:0000707	Abnormality of the nervous system	23590	PDSS1	OMIM:614651
HP:0000707	Abnormality of the nervous system	4069	LYZ	OMIM:620658
HP:0000707	Abnormality of the nervous system	51062	ATL1	ORPHA:100984
HP:0000707	Abnormality of the nervous system	51062	ATL1	OMIM:613708
HP:0000707	Abnormality of the nervous system	7167	TPI1	OMIM:615512
HP:0000707	Abnormality of the nervous system	4803	NGF	OMIM:608654
HP:0000707	Abnormality of the nervous system	1959	EGR2	OMIM:607678
HP:0000707	Abnormality of the nervous system	1959	EGR2	OMIM:605253
HP:0000707	Abnormality of the nervous system	3315	HSPB1	OMIM:608634
HP:0000707	Abnormality of the nervous system	2632	GBE1	ORPHA:206583
HP:0000707	Abnormality of the nervous system	5611	DNAJC3	OMIM:616192
HP:0000707	Abnormality of the nervous system	5981	RFC1	OMIM:614575
HP:0000707	Abnormality of the nervous system	2065	ERBB3	OMIM:243180
HP:0000707	Abnormality of the nervous system	64374	SIL1	ORPHA:559
HP:0000707	Abnormality of the nervous system	56244	BTNL2	ORPHA:797
HP:0000707	Abnormality of the nervous system	79736	TEFM	OMIM:620451
HP:0000707	Abnormality of the nervous system	22948	CCT5	ORPHA:139578
HP:0000707	Abnormality of the nervous system	189	AGXT	OMIM:259900
HP:0000707	Abnormality of the nervous system	57570	TRMT5	OMIM:616539
HP:0000707	Abnormality of the nervous system	3033	HADH	ORPHA:71212
HP:0000707	Abnormality of the nervous system	3710	ITPR3	OMIM:620111
HP:0000707	Abnormality of the nervous system	11155	LDB3	ORPHA:98912
HP:0000707	Abnormality of the nervous system	2617	GARS1	OMIM:600794
HP:0000707	Abnormality of the nervous system	940	CD28	ORPHA:3162
HP:0000707	Abnormality of the nervous system	7133	TNFRSF1B	ORPHA:3162
HP:0000707	Abnormality of the nervous system	51663	ZFR	ORPHA:401840
HP:0000707	Abnormality of the nervous system	55331	ACER3	OMIM:617762
HP:0000707	Abnormality of the nervous system	6342	SCP2	OMIM:613724
HP:0000707	Abnormality of the nervous system	9509	ADAMTS2	ORPHA:1901
HP:0000707	Abnormality of the nervous system	860	RUNX2	ORPHA:1452
HP:0000707	Abnormality of the nervous system	4054	LTBP3	OMIM:617809
HP:0000707	Abnormality of the nervous system	2688	GH1	OMIM:173100
HP:0000707	Abnormality of the nervous system	148867	SLC30A7	OMIM:620501
HP:0000707	Abnormality of the nervous system	6926	TBX3	OMIM:181450
HP:0000707	Abnormality of the nervous system	2692	GHRHR	OMIM:618157
HP:0000707	Abnormality of the nervous system	9790	BMS1	ORPHA:1114
HP:0000707	Abnormality of the nervous system	3691	ITGB4	ORPHA:1114
HP:0000707	Abnormality of the nervous system	55610	VPS50	OMIM:619685
HP:0000707	Abnormality of the nervous system	3868	KRT16	ORPHA:2199
HP:0000707	Abnormality of the nervous system	3857	KRT9	ORPHA:2199
HP:0000707	Abnormality of the nervous system	3848	KRT1	ORPHA:2199
HP:0000707	Abnormality of the nervous system	165	AEBP1	ORPHA:536532
HP:0000707	Abnormality of the nervous system	137492	VPS37A	ORPHA:319199
HP:0000707	Abnormality of the nervous system	59335	PRDM12	OMIM:616488
HP:0000707	Abnormality of the nervous system	5173	PDYN	ORPHA:101108
HP:0000707	Abnormality of the nervous system	51128	SAR1B	ORPHA:71
HP:0000707	Abnormality of the nervous system	9037	SEMA5A	ORPHA:281
HP:0000707	Abnormality of the nervous system	55628	ZNF407	OMIM:619557
HP:0000707	Abnormality of the nervous system	8492	PRSS12	OMIM:249500
HP:0000707	Abnormality of the nervous system	5689	PSMB1	OMIM:620038
HP:0000707	Abnormality of the nervous system	54862	CC2D1A	OMIM:608443
HP:0000707	Abnormality of the nervous system	55084	SOBP	OMIM:613671
HP:0000707	Abnormality of the nervous system	9662	CEP135	OMIM:614673
HP:0000707	Abnormality of the nervous system	9662	CEP135	ORPHA:2512
HP:0000707	Abnormality of the nervous system	55969	RAB5IF	OMIM:616994
HP:0000707	Abnormality of the nervous system	23630	KCNE5	ORPHA:86818
HP:0000707	Abnormality of the nervous system	4176	MCM7	ORPHA:2512
HP:0000707	Abnormality of the nervous system	1911	PHC1	ORPHA:2512
HP:0000707	Abnormality of the nervous system	6599	SMARCC1	OMIM:620241
HP:0000707	Abnormality of the nervous system	84282	RNF135	ORPHA:137634
HP:0000707	Abnormality of the nervous system	9969	MED13	OMIM:618009
HP:0000707	Abnormality of the nervous system	29927	SEC61A1	OMIM:617056
HP:0000707	Abnormality of the nervous system	4173	MCM4	OMIM:609981
HP:0000707	Abnormality of the nervous system	338657	CENATAC	OMIM:620153
HP:0000707	Abnormality of the nervous system	506	ATP5F1B	OMIM:620085
HP:0000707	Abnormality of the nervous system	56160	NSMCE3	OMIM:617241
HP:0000707	Abnormality of the nervous system	8550	MAPKAPK5	OMIM:619869
HP:0000707	Abnormality of the nervous system	5331	PLCB3	OMIM:618961
HP:0000707	Abnormality of the nervous system	5557	PRIM1	OMIM:620005
HP:0000707	Abnormality of the nervous system	84987	COX14	OMIM:619053
HP:0000707	Abnormality of the nervous system	23729	SHPK	ORPHA:440713
HP:0000707	Abnormality of the nervous system	6571	SLC18A2	ORPHA:352649
HP:0000707	Abnormality of the nervous system	51308	REEP2	ORPHA:401849
HP:0000707	Abnormality of the nervous system	6530	SLC6A2	OMIM:604715
HP:0000707	Abnormality of the nervous system	760	CA2	ORPHA:2785
HP:0000707	Abnormality of the nervous system	3071	NCKAP1L	OMIM:618982
HP:0000707	Abnormality of the nervous system	677814	SNORA31	OMIM:619396
HP:0000707	Abnormality of the nervous system	10525	HYOU1	OMIM:233600
HP:0000707	Abnormality of the nervous system	7259	TSPYL1	ORPHA:168593
HP:0000707	Abnormality of the nervous system	57216	VANGL2	ORPHA:563612
HP:0000707	Abnormality of the nervous system	6341	SCO1	OMIM:619048
HP:0000707	Abnormality of the nervous system	374879	ZNF699	OMIM:619488
HP:0000707	Abnormality of the nervous system	26005	C2CD3	ORPHA:434179
HP:0000707	Abnormality of the nervous system	1719	DHFR	OMIM:613839
HP:0000707	Abnormality of the nervous system	2693	GHSR	OMIM:615925
HP:0000707	Abnormality of the nervous system	3949	LDLR	ORPHA:391665
HP:0000707	Abnormality of the nervous system	255738	PCSK9	ORPHA:391665
HP:0000707	Abnormality of the nervous system	26119	LDLRAP1	ORPHA:391665
HP:0000707	Abnormality of the nervous system	338	APOB	ORPHA:391665
HP:0000707	Abnormality of the nervous system	64240	ABCG5	ORPHA:391665
HP:0000707	Abnormality of the nervous system	64241	ABCG8	ORPHA:391665
HP:0000707	Abnormality of the nervous system	9829	DNAJC6	ORPHA:391411
HP:0000707	Abnormality of the nervous system	5420	PODXL	ORPHA:391411
HP:0000707	Abnormality of the nervous system	8867	SYNJ1	ORPHA:391411
HP:0000707	Abnormality of the nervous system	5230	PGK1	ORPHA:713
HP:0000707	Abnormality of the nervous system	2645	GCK	ORPHA:79299
HP:0000707	Abnormality of the nervous system	375	ARF1	ORPHA:98892
HP:0000707	Abnormality of the nervous system	4131	MAP1B	ORPHA:98892
HP:0000707	Abnormality of the nervous system	2316	FLNA	ORPHA:98892
HP:0000707	Abnormality of the nervous system	23327	NEDD4L	ORPHA:98892
HP:0000707	Abnormality of the nervous system	160418	TMTC3	ORPHA:98892
HP:0000707	Abnormality of the nervous system	10564	ARFGEF2	ORPHA:98892
HP:0000707	Abnormality of the nervous system	55780	ERMARD	ORPHA:98892
HP:0000707	Abnormality of the nervous system	4208	MEF2C	ORPHA:228384
HP:0000707	Abnormality of the nervous system	7157	TP53	ORPHA:2807
HP:0000707	Abnormality of the nervous system	3845	KRAS	ORPHA:3339
HP:0000707	Abnormality of the nervous system	5290	PIK3CA	ORPHA:60040
HP:0000707	Abnormality of the nervous system	6804	STX1A	ORPHA:904
HP:0000707	Abnormality of the nervous system	7461	CLIP2	ORPHA:904
HP:0000707	Abnormality of the nervous system	84277	DNAJC30	ORPHA:904
HP:0000707	Abnormality of the nervous system	8468	FKBP6	ORPHA:904
HP:0000707	Abnormality of the nervous system	5982	RFC2	ORPHA:904
HP:0000707	Abnormality of the nervous system	2969	GTF2I	ORPHA:904
HP:0000707	Abnormality of the nervous system	3984	LIMK1	ORPHA:904
HP:0000707	Abnormality of the nervous system	9569	GTF2IRD1	ORPHA:904
HP:0000707	Abnormality of the nervous system	155382	VPS37D	ORPHA:904
HP:0000707	Abnormality of the nervous system	155368	METTL27	ORPHA:904
HP:0000707	Abnormality of the nervous system	114049	BUD23	ORPHA:904
HP:0000707	Abnormality of the nervous system	7458	EIF4H	ORPHA:904
HP:0000707	Abnormality of the nervous system	84163	GTF2IRD2	ORPHA:904
HP:0000707	Abnormality of the nervous system	26608	TBL2	ORPHA:904
HP:0000707	Abnormality of the nervous system	653361	NCF1	ORPHA:904
HP:0000707	Abnormality of the nervous system	135886	TMEM270	ORPHA:904
HP:0000707	Abnormality of the nervous system	9031	BAZ1B	ORPHA:904
HP:0000707	Abnormality of the nervous system	2006	ELN	ORPHA:904
HP:0000707	Abnormality of the nervous system	57492	ARID1B	ORPHA:251056
HP:0000707	Abnormality of the nervous system	672	BRCA1	ORPHA:84
HP:0000707	Abnormality of the nervous system	10459	MAD2L2	ORPHA:84
HP:0000707	Abnormality of the nervous system	7516	XRCC2	ORPHA:84
HP:0000707	Abnormality of the nervous system	29089	UBE2T	ORPHA:84
HP:0000707	Abnormality of the nervous system	675	BRCA2	ORPHA:84
HP:0000707	Abnormality of the nervous system	55120	FANCL	ORPHA:84
HP:0000707	Abnormality of the nervous system	2177	FANCD2	ORPHA:84
HP:0000707	Abnormality of the nervous system	2175	FANCA	ORPHA:84
HP:0000707	Abnormality of the nervous system	2187	FANCB	ORPHA:84
HP:0000707	Abnormality of the nervous system	2176	FANCC	ORPHA:84
HP:0000707	Abnormality of the nervous system	2178	FANCE	ORPHA:84
HP:0000707	Abnormality of the nervous system	2188	FANCF	ORPHA:84
HP:0000707	Abnormality of the nervous system	2189	FANCG	ORPHA:84
HP:0000707	Abnormality of the nervous system	5888	RAD51	ORPHA:84
HP:0000707	Abnormality of the nervous system	5889	RAD51C	ORPHA:84
HP:0000707	Abnormality of the nervous system	55159	RFWD3	ORPHA:84
HP:0000707	Abnormality of the nervous system	83990	BRIP1	ORPHA:84
HP:0000707	Abnormality of the nervous system	57697	FANCM	ORPHA:84
HP:0000707	Abnormality of the nervous system	79728	PALB2	ORPHA:84
HP:0000707	Abnormality of the nervous system	84464	SLX4	ORPHA:84
HP:0000707	Abnormality of the nervous system	2072	ERCC4	ORPHA:84
HP:0000707	Abnormality of the nervous system	55215	FANCI	ORPHA:84
HP:0000707	Abnormality of the nervous system	51	ACOX1	ORPHA:2971
HP:0000707	Abnormality of the nervous system	5205	ATP8B1	ORPHA:69665
HP:0000707	Abnormality of the nervous system	8647	ABCB11	ORPHA:69665
HP:0000707	Abnormality of the nervous system	5244	ABCB4	ORPHA:69665
HP:0000707	Abnormality of the nervous system	9971	NR1H4	ORPHA:69665
HP:0000707	Abnormality of the nervous system	4713	NDUFB7	OMIM:620135
HP:0000707	Abnormality of the nervous system	63925	ZNF335	ORPHA:329228
HP:0000707	Abnormality of the nervous system	58499	ZNF462	ORPHA:502430
HP:0000707	Abnormality of the nervous system	5087	PBX1	ORPHA:97362
HP:0000707	Abnormality of the nervous system	84548	TMEM185A	ORPHA:100974
HP:0000707	Abnormality of the nervous system	7252	TSHB	ORPHA:90674
HP:0000707	Abnormality of the nervous system	4091	SMAD6	OMIM:617439
HP:0000707	Abnormality of the nervous system	5295	PIK3R1	OMIM:616005
HP:0000707	Abnormality of the nervous system	5295	PIK3R1	ORPHA:397596
HP:0000707	Abnormality of the nervous system	6138	RPL15	ORPHA:124
HP:0000707	Abnormality of the nervous system	6165	RPL35A	ORPHA:124
HP:0000707	Abnormality of the nervous system	6132	RPL8	ORPHA:124
HP:0000707	Abnormality of the nervous system	6232	RPS27	ORPHA:124
HP:0000707	Abnormality of the nervous system	55027	HEATR3	ORPHA:124
HP:0000707	Abnormality of the nervous system	6160	RPL31	ORPHA:124
HP:0000707	Abnormality of the nervous system	6201	RPS7	ORPHA:124
HP:0000707	Abnormality of the nervous system	6155	RPL27	ORPHA:124
HP:0000707	Abnormality of the nervous system	6234	RPS28	ORPHA:124
HP:0000707	Abnormality of the nervous system	6135	RPL11	ORPHA:124
HP:0000707	Abnormality of the nervous system	6229	RPS24	ORPHA:124
HP:0000707	Abnormality of the nervous system	6125	RPL5	ORPHA:124
HP:0000707	Abnormality of the nervous system	6204	RPS10	ORPHA:124
HP:0000707	Abnormality of the nervous system	2623	GATA1	ORPHA:124
HP:0000707	Abnormality of the nervous system	6133	RPL9	ORPHA:124
HP:0000707	Abnormality of the nervous system	6231	RPS26	ORPHA:124
HP:0000707	Abnormality of the nervous system	11224	RPL35	ORPHA:124
HP:0000707	Abnormality of the nervous system	6218	RPS17	ORPHA:124
HP:0000707	Abnormality of the nervous system	6154	RPL26	ORPHA:124
HP:0000707	Abnormality of the nervous system	6210	RPS15A	ORPHA:124
HP:0000707	Abnormality of the nervous system	90121	TSR2	ORPHA:124
HP:0000707	Abnormality of the nervous system	6141	RPL18	ORPHA:124
HP:0000707	Abnormality of the nervous system	6235	RPS29	ORPHA:124
HP:0000707	Abnormality of the nervous system	6927	HNF1A	ORPHA:324575
HP:0000707	Abnormality of the nervous system	7381	UQCRB	OMIM:615158
HP:0000707	Abnormality of the nervous system	1135	CHRNA2	OMIM:610353
HP:0000707	Abnormality of the nervous system	7351	UCP2	ORPHA:276556
HP:0000707	Abnormality of the nervous system	267010	RNU12	ORPHA:512260
HP:0000707	Abnormality of the nervous system	10398	MYL9	OMIM:619365
HP:0000707	Abnormality of the nervous system	344167	FOXI3	OMIM:620444
HP:0000707	Abnormality of the nervous system	1351	COX8A	OMIM:619059
HP:0000707	Abnormality of the nervous system	2642	GCGR	ORPHA:438274
HP:0000707	Abnormality of the nervous system	7373	COL14A1	ORPHA:79501
HP:0000707	Abnormality of the nervous system	79719	AAGAB	ORPHA:79501
HP:0000707	Abnormality of the nervous system	50833	TAS2R16	OMIM:103780
HP:0000707	Abnormality of the nervous system	125	ADH1B	OMIM:103780
HP:0000707	Abnormality of the nervous system	3514	IGKC	ORPHA:183675
HP:0000707	Abnormality of the nervous system	3501	IGHG2	ORPHA:183675
HP:0000707	Abnormality of the nervous system	1407	CRY1	OMIM:614163
HP:0000707	Abnormality of the nervous system	8914	TIMELESS	OMIM:620015
HP:0000707	Abnormality of the nervous system	8863	PER3	OMIM:616882
HP:0000707	Abnormality of the nervous system	1291	COL6A1	OMIM:158810
HP:0000707	Abnormality of the nervous system	1576	CYP3A4	OMIM:619073
HP:0000707	Abnormality of the nervous system	79879	CCDC134	OMIM:619795
HP:0000707	Abnormality of the nervous system	23233	EXOC6B	OMIM:618395
HP:0000707	Abnormality of the nervous system	6907	TBL1X	OMIM:301033
HP:0000707	Abnormality of the nervous system	3574	IL7	OMIM:618309
HP:0000707	Abnormality of the nervous system	84816	RTN4IP1	OMIM:616732
HP:0000707	Abnormality of the nervous system	5934	RBL2	OMIM:619690
HP:0000707	Abnormality of the nervous system	400569	MED11	OMIM:620327
HP:0000707	Abnormality of the nervous system	10021	HCN4	OMIM:619521
HP:0000707	Abnormality of the nervous system	129285	PPP1R21	OMIM:619383
HP:0000707	Abnormality of the nervous system	57128	LYRM4	OMIM:615595
HP:0000707	Abnormality of the nervous system	871	SERPINH1	OMIM:613848
HP:0000707	Abnormality of the nervous system	84265	POLR3GL	OMIM:619234
HP:0000707	Abnormality of the nervous system	27327	TNRC6A	OMIM:618074
HP:0000707	Abnormality of the nervous system	153	ADRB1	OMIM:618591
HP:0000707	Abnormality of the nervous system	939	CD27	OMIM:615122
HP:0000707	Abnormality of the nervous system	116519	APOA5	OMIM:145750
HP:0000707	Abnormality of the nervous system	4792	NFKBIA	ORPHA:98813
HP:0000707	Abnormality of the nervous system	1053	CEBPE	OMIM:245480
HP:0000707	Abnormality of the nervous system	2048	EPHB2	OMIM:603688
HP:0000707	Abnormality of the nervous system	2130	EWSR1	ORPHA:83469
HP:0000707	Abnormality of the nervous system	4193	MDM2	ORPHA:524
HP:0000707	Abnormality of the nervous system	8930	MBD4	OMIM:619975
HP:0000707	Abnormality of the nervous system	54894	RNF43	ORPHA:157798
HP:0000707	Abnormality of the nervous system	3425	IDUA	ORPHA:93474
HP:0000707	Abnormality of the nervous system	3425	IDUA	ORPHA:93473
HP:0000707	Abnormality of the nervous system	6531	SLC6A3	ORPHA:238455
HP:0000707	Abnormality of the nervous system	23291	FBXW11	OMIM:618914
HP:0000707	Abnormality of the nervous system	23189	KANK1	OMIM:612900
HP:0000707	Abnormality of the nervous system	3248	HPGD	ORPHA:2796
HP:0000707	Abnormality of the nervous system	6578	SLCO2A1	ORPHA:2796
HP:0000707	Abnormality of the nervous system	5092	PCBD1	ORPHA:1578
HP:0000707	Abnormality of the nervous system	4549	MT-RNR1	ORPHA:551
HP:0000707	Abnormality of the nervous system	29887	SNX10	ORPHA:667
HP:0000707	Abnormality of the nervous system	4967	OGDH	ORPHA:31
HP:0000707	Abnormality of the nervous system	1757	SARDH	ORPHA:3129
HP:0000707	Abnormality of the nervous system	5080	PAX6	ORPHA:1065
HP:0000707	Abnormality of the nervous system	57338	JPH3	ORPHA:98934
HP:0000707	Abnormality of the nervous system	1146	CHRNG	ORPHA:2990
HP:0000707	Abnormality of the nervous system	111	ADCY5	ORPHA:1429
HP:0000707	Abnormality of the nervous system	57562	CEP126	ORPHA:65684
HP:0000707	Abnormality of the nervous system	1301	COL11A1	OMIM:154780
HP:0000707	Abnormality of the nervous system	6495	SIX1	OMIM:113650
HP:0000707	Abnormality of the nervous system	6495	SIX1	ORPHA:107
HP:0000707	Abnormality of the nervous system	147912	SIX5	ORPHA:107
HP:0000707	Abnormality of the nervous system	54507	ADAMTSL4	ORPHA:1885
HP:0000707	Abnormality of the nervous system	1131	CHRM3	ORPHA:2970
HP:0000707	Abnormality of the nervous system	79798	ARMC5	ORPHA:189427
HP:0000707	Abnormality of the nervous system	23028	KDM1A	ORPHA:189427
HP:0000707	Abnormality of the nervous system	9652	SKIC3	OMIM:222470
HP:0000707	Abnormality of the nervous system	92935	MARS2	OMIM:611390
HP:0000707	Abnormality of the nervous system	54453	RIN2	ORPHA:217335
HP:0000707	Abnormality of the nervous system	2542	SLC37A4	ORPHA:79259
HP:0000707	Abnormality of the nervous system	79827	CLMP	ORPHA:2301
HP:0000707	Abnormality of the nervous system	151516	ASPRV1	ORPHA:313
HP:0000707	Abnormality of the nervous system	126410	CYP4F22	ORPHA:313
HP:0000707	Abnormality of the nervous system	6820	SULT2B1	ORPHA:313
HP:0000707	Abnormality of the nervous system	26154	ABCA12	ORPHA:313
HP:0000707	Abnormality of the nervous system	643418	LIPN	ORPHA:313
HP:0000707	Abnormality of the nervous system	348938	NIPAL4	ORPHA:313
HP:0000707	Abnormality of the nervous system	121214	SDR9C7	ORPHA:313
HP:0000707	Abnormality of the nervous system	7051	TGM1	ORPHA:313
HP:0000707	Abnormality of the nervous system	1756	DMD	ORPHA:98896
HP:0000707	Abnormality of the nervous system	8425	LTBP4	ORPHA:98896
HP:0000707	Abnormality of the nervous system	10137	RBM12	OMIM:617629
HP:0000707	Abnormality of the nervous system	199221	DZIP1L	ORPHA:731
HP:0000707	Abnormality of the nervous system	5314	PKHD1	ORPHA:731
HP:0000707	Abnormality of the nervous system	284217	LAMA1	ORPHA:370022
HP:0000707	Abnormality of the nervous system	23363	OBSL1	ORPHA:2616
HP:0000707	Abnormality of the nervous system	83987	CCDC8	ORPHA:2616
HP:0000707	Abnormality of the nervous system	26100	WIPI2	OMIM:618453
HP:0000707	Abnormality of the nervous system	51726	DNAJB11	ORPHA:730
HP:0000707	Abnormality of the nervous system	23193	GANAB	ORPHA:730
HP:0000707	Abnormality of the nervous system	5310	PKD1	ORPHA:730
HP:0000707	Abnormality of the nervous system	5311	PKD2	ORPHA:730
HP:0000707	Abnormality of the nervous system	29880	ALG5	ORPHA:730
HP:0000707	Abnormality of the nervous system	80114	BICC1	ORPHA:730
HP:0000707	Abnormality of the nervous system	2202	EFEMP1	OMIM:620780
HP:0000707	Abnormality of the nervous system	1119	CHKA	OMIM:620023
HP:0000707	Abnormality of the nervous system	9378	NRXN1	OMIM:614325
HP:0000707	Abnormality of the nervous system	4905	NSF	OMIM:619340
HP:0000707	Abnormality of the nervous system	23031	MAST3	OMIM:620115
HP:0000707	Abnormality of the nervous system	54802	TRIT1	OMIM:617873
HP:0000707	Abnormality of the nervous system	112	ADCY6	OMIM:616287
HP:0000707	Abnormality of the nervous system	7314	UBB	ORPHA:99772
HP:0000707	Abnormality of the nervous system	57822	GRHL3	ORPHA:99772
HP:0000707	Abnormality of the nervous system	222663	SCUBE3	OMIM:619184
HP:0000707	Abnormality of the nervous system	57589	RIC1	ORPHA:199306
HP:0000707	Abnormality of the nervous system	1739	DLG1	ORPHA:199306
HP:0000707	Abnormality of the nervous system	999	CDH1	ORPHA:199306
HP:0000707	Abnormality of the nervous system	1748	DLX4	ORPHA:199306
HP:0000707	Abnormality of the nervous system	22837	COBLL1	ORPHA:199306
HP:0000707	Abnormality of the nervous system	54848	ARHGEF38	ORPHA:199306
HP:0000707	Abnormality of the nervous system	9411	ARHGAP29	ORPHA:199306
HP:0000707	Abnormality of the nervous system	3786	KCNQ3	ORPHA:306
HP:0000707	Abnormality of the nervous system	65082	VPS33A	ORPHA:505248
HP:0000707	Abnormality of the nervous system	84570	COL25A1	ORPHA:1143
HP:0000707	Abnormality of the nervous system	57222	ERGIC1	ORPHA:1143
HP:0000707	Abnormality of the nervous system	1173	AP2M1	ORPHA:1942
HP:0000707	Abnormality of the nervous system	6529	SLC6A1	ORPHA:1942
HP:0000707	Abnormality of the nervous system	9211	LGI1	ORPHA:101046
HP:0000707	Abnormality of the nervous system	55165	CEP55	OMIM:236500
HP:0000707	Abnormality of the nervous system	6850	SYK	OMIM:619381
HP:0001334	Communicating hydrocephalus	27019	DNAI1	OMIM:244400
HP:0001334	Communicating hydrocephalus	2639	GCDH	ORPHA:25
HP:0001334	Communicating hydrocephalus	8925	HERC1	ORPHA:457359
HP:0001334	Communicating hydrocephalus	8925	HERC1	OMIM:617011
HP:0001334	Communicating hydrocephalus	5034	P4HB	OMIM:112240
HP:0001334	Communicating hydrocephalus	5034	P4HB	ORPHA:2050
HP:0001334	Communicating hydrocephalus	10491	CRTAP	ORPHA:2050
HP:0001334	Communicating hydrocephalus	9871	SEC24D	ORPHA:2050
HP:0001334	Communicating hydrocephalus	51095	TRNT1	OMIM:616084
HP:0001334	Communicating hydrocephalus	55503	TRPV6	OMIM:618188
HP:0001334	Communicating hydrocephalus	9231	DLG5	OMIM:620703
HP:0001334	Communicating hydrocephalus	8777	MPDZ	OMIM:615219
HP:0001334	Communicating hydrocephalus	131405	TRIM71	OMIM:618667
HP:0001334	Communicating hydrocephalus	6513	SLC2A1	ORPHA:168577
HP:0001334	Communicating hydrocephalus	4125	MAN2B1	ORPHA:309282
HP:0001334	Communicating hydrocephalus	9578	CDC42BPB	OMIM:619841
HP:0001334	Communicating hydrocephalus	11041	B4GAT1	OMIM:615287
HP:0001334	Communicating hydrocephalus	29128	UHRF1	ORPHA:2268
HP:0001334	Communicating hydrocephalus	3070	HELLS	ORPHA:2268
HP:0001334	Communicating hydrocephalus	1789	DNMT3B	ORPHA:2268
HP:0001334	Communicating hydrocephalus	83879	CDCA7	ORPHA:2268
HP:0001334	Communicating hydrocephalus	9841	ZBTB24	ORPHA:2268
HP:0001334	Communicating hydrocephalus	5728	PTEN	ORPHA:2969
HP:0001334	Communicating hydrocephalus	2200	FBN1	ORPHA:2462
HP:0001334	Communicating hydrocephalus	6497	SKI	ORPHA:2462
HP:0001334	Communicating hydrocephalus	26834	RNU4-2	OMIM:620851
HP:0001335	Bimanual synkinesia	3730	ANOS1	OMIM:308700
HP:0001335	Bimanual synkinesia	3730	ANOS1	ORPHA:478
HP:0001335	Bimanual synkinesia	5888	RAD51	ORPHA:238722
HP:0001335	Bimanual synkinesia	5888	RAD51	OMIM:157600
HP:0001335	Bimanual synkinesia	5888	RAD51	OMIM:614508
HP:0001335	Bimanual synkinesia	10126	DNAL4	ORPHA:238722
HP:0001335	Bimanual synkinesia	10126	DNAL4	OMIM:616059
HP:0001335	Bimanual synkinesia	9423	NTN1	ORPHA:238722
HP:0001335	Bimanual synkinesia	9423	NTN1	OMIM:157600
HP:0001335	Bimanual synkinesia	9423	NTN1	OMIM:618264
HP:0001335	Bimanual synkinesia	1630	DCC	ORPHA:238722
HP:0001335	Bimanual synkinesia	1630	DCC	OMIM:157600
HP:0001335	Bimanual synkinesia	1630	DCC	OMIM:617542
HP:0001335	Bimanual synkinesia	1630	DCC	ORPHA:478
HP:0001335	Bimanual synkinesia	392255	GDF6	OMIM:118100
HP:0001335	Bimanual synkinesia	128674	PROKR2	OMIM:244200
HP:0001335	Bimanual synkinesia	128674	PROKR2	ORPHA:478
HP:0001335	Bimanual synkinesia	22995	CEP152	OMIM:614852
HP:0001335	Bimanual synkinesia	2260	FGFR1	OMIM:147950
HP:0001335	Bimanual synkinesia	2260	FGFR1	ORPHA:478
HP:0001335	Bimanual synkinesia	6091	ROBO1	OMIM:620305
HP:0001335	Bimanual synkinesia	10371	SEMA3A	OMIM:614897
HP:0001335	Bimanual synkinesia	10371	SEMA3A	ORPHA:478
HP:0001335	Bimanual synkinesia	374969	SVBP	OMIM:618569
HP:0001335	Bimanual synkinesia	57082	KNL1	OMIM:604321
HP:0001335	Bimanual synkinesia	9215	LARGE1	OMIM:608840
HP:0001335	Bimanual synkinesia	81848	SPRY4	ORPHA:478
HP:0001335	Bimanual synkinesia	23767	FLRT3	ORPHA:478
HP:0001335	Bimanual synkinesia	79625	NDNF	ORPHA:478
HP:0001335	Bimanual synkinesia	2253	FGF8	ORPHA:478
HP:0001335	Bimanual synkinesia	389549	FEZF1	ORPHA:478
HP:0001335	Bimanual synkinesia	54756	IL17RD	ORPHA:478
HP:0001335	Bimanual synkinesia	6663	SOX10	ORPHA:478
HP:0001335	Bimanual synkinesia	285025	CCDC141	ORPHA:478
HP:0001335	Bimanual synkinesia	60675	PROK2	ORPHA:478
HP:0001335	Bimanual synkinesia	60675	PROK2	OMIM:610628
HP:0001335	Bimanual synkinesia	55636	CHD7	ORPHA:478
HP:0001335	Bimanual synkinesia	1848	DUSP6	ORPHA:478
HP:0001335	Bimanual synkinesia	6870	TACR3	ORPHA:478
HP:0001335	Bimanual synkinesia	55717	WDR11	ORPHA:478
HP:0001335	Bimanual synkinesia	9394	HS6ST1	ORPHA:478
HP:0001335	Bimanual synkinesia	8820	HESX1	ORPHA:478
HP:0001335	Bimanual synkinesia	8822	FGF17	ORPHA:478
HP:0001335	Bimanual synkinesia	1000	CDH2	OMIM:618929
HP:0001335	Bimanual synkinesia	10430	TMEM147	OMIM:620075
HP:0007780	Cortical pulverulent cataract	4094	MAF	OMIM:610202
HP:0007780	Cortical pulverulent cataract	3982	LIM2	OMIM:615277
HP:0007769	Peripheral retinal degeneration	6247	RS1	OMIM:312700
HP:0007769	Peripheral retinal degeneration	2202	EFEMP1	ORPHA:75376
HP:0007769	Peripheral retinal degeneration	2202	EFEMP1	OMIM:126600
HP:0007769	Peripheral retinal degeneration	3075	CFH	ORPHA:75376
HP:0007769	Peripheral retinal degeneration	3426	CFI	ORPHA:75376
HP:0007769	Peripheral retinal degeneration	5456	POU3F4	ORPHA:1435
HP:0007769	Peripheral retinal degeneration	1280	COL2A1	ORPHA:485
HP:0007769	Peripheral retinal degeneration	1280	COL2A1	OMIM:619248
HP:0007769	Peripheral retinal degeneration	652	BMP4	ORPHA:828
HP:0007769	Peripheral retinal degeneration	55214	P3H2	OMIM:614292
HP:0007769	Peripheral retinal degeneration	3769	KCNJ13	OMIM:193230
HP:0007776	Sparse lower eyelashes	10262	SF3B4	ORPHA:245
HP:0007776	Sparse lower eyelashes	10262	SF3B4	OMIM:154400
HP:0007776	Sparse lower eyelashes	117581	TWIST2	ORPHA:1807
HP:0007776	Sparse lower eyelashes	6949	TCOF1	OMIM:154500
HP:0007858	Chorioretinal lacunae	8449	DHX16	OMIM:618733
HP:0007858	Chorioretinal lacunae	3832	KIF11	OMIM:152950
HP:0004590	Hypoplastic sacrum	4920	ROR2	OMIM:268310
HP:0004590	Hypoplastic sacrum	4920	ROR2	OMIM:113000
HP:0004590	Hypoplastic sacrum	9321	TRIP11	OMIM:200600
HP:0004590	Hypoplastic sacrum	25886	POC1A	OMIM:614813
HP:0004590	Hypoplastic sacrum	55120	FANCL	OMIM:614083
HP:0004590	Hypoplastic sacrum	8626	TP63	OMIM:604292
HP:0004590	Hypoplastic sacrum	6223	RPS19	OMIM:105650
HP:0004591	Disc-like vertebral bodies	1280	COL2A1	OMIM:151210
HP:0004592	Thoracic platyspondyly	89970	RSPRY1	ORPHA:457395
HP:0004592	Thoracic platyspondyly	4149	MAX	OMIM:620712
HP:0004592	Thoracic platyspondyly	5593	PRKG2	OMIM:619636
HP:0004592	Thoracic platyspondyly	3930	LBR	OMIM:618019
HP:0004592	Thoracic platyspondyly	5331	PLCB3	OMIM:618961
HP:0004592	Thoracic platyspondyly	2317	FLNB	OMIM:108720
HP:0004594	Hump-shaped mound of bone in central and posterior portions of vertebral endplate	6399	TRAPPC2	ORPHA:93284
HP:0004594	Hump-shaped mound of bone in central and posterior portions of vertebral endplate	6399	TRAPPC2	OMIM:313400
HP:0004598	Supernumerary vertebral ossification centers	3930	LBR	OMIM:215140
HP:0004598	Supernumerary vertebral ossification centers	3955	LFNG	OMIM:609813
HP:0004599	Absent or minimally ossified vertebral bodies	3930	LBR	OMIM:215140
HP:0004599	Absent or minimally ossified vertebral bodies	168667	BMPER	ORPHA:66637
HP:0004599	Absent or minimally ossified vertebral bodies	55112	DYNC2I1	ORPHA:93271
HP:0004599	Absent or minimally ossified vertebral bodies	57560	IFT80	ORPHA:93271
HP:0004599	Absent or minimally ossified vertebral bodies	57539	WDR35	ORPHA:93271
HP:0004599	Absent or minimally ossified vertebral bodies	79659	DYNC2H1	ORPHA:93271
HP:0004599	Absent or minimally ossified vertebral bodies	89891	DYNC2I2	ORPHA:93271
HP:0004599	Absent or minimally ossified vertebral bodies	1836	SLC26A2	OMIM:600972
HP:0004599	Absent or minimally ossified vertebral bodies	2317	FLNB	ORPHA:1190
HP:0004599	Absent or minimally ossified vertebral bodies	1280	COL2A1	OMIM:200610
HP:0004599	Absent or minimally ossified vertebral bodies	1280	COL2A1	ORPHA:93296
HP:0004599	Absent or minimally ossified vertebral bodies	9321	TRIP11	OMIM:200600
HP:0004599	Absent or minimally ossified vertebral bodies	249	ALPL	OMIM:241500
HP:0004599	Absent or minimally ossified vertebral bodies	6662	SOX9	ORPHA:140
HP:0004599	Absent or minimally ossified vertebral bodies	6662	SOX9	OMIM:114290
HP:0004599	Absent or minimally ossified vertebral bodies	57020	VPS35L	OMIM:619135
HP:0008020	Cone dystrophy	5149	PDE6H	OMIM:610024
HP:0007770	Hypoplasia of the retina	55624	POMGNT1	OMIM:253280
HP:0001340	Enhancement of the C-reflex	401474	SAMD12	OMIM:601068
HP:0001340	Enhancement of the C-reflex	55689	YEATS2	OMIM:615127
HP:0001340	Enhancement of the C-reflex	56910	STARD7	OMIM:607876
HP:0001340	Enhancement of the C-reflex	10299	MARCHF6	OMIM:613608
HP:0001341	Olfactory lobe agenesis	3730	ANOS1	OMIM:308700
HP:0001341	Olfactory lobe agenesis	54903	MKS1	OMIM:249000
HP:0001341	Olfactory lobe agenesis	1908	EDN3	ORPHA:897
HP:0001341	Olfactory lobe agenesis	4286	MITF	ORPHA:897
HP:0001341	Olfactory lobe agenesis	1910	EDNRB	ORPHA:897
HP:0001341	Olfactory lobe agenesis	6663	SOX10	ORPHA:897
HP:0001341	Olfactory lobe agenesis	5277	PIGA	OMIM:300868
HP:0001342	Cerebral hemorrhage	1471	CST3	OMIM:105150
HP:0001342	Cerebral hemorrhage	1471	CST3	ORPHA:100008
HP:0001342	Cerebral hemorrhage	94	ACVRL1	OMIM:600376
HP:0001342	Cerebral hemorrhage	94	ACVRL1	ORPHA:774
HP:0001342	Cerebral hemorrhage	10019	SH2B3	OMIM:133100
HP:0001342	Cerebral hemorrhage	3717	JAK2	OMIM:133100
HP:0001342	Cerebral hemorrhage	3717	JAK2	OMIM:263300
HP:0001342	Cerebral hemorrhage	2057	EPOR	OMIM:133100
HP:0001342	Cerebral hemorrhage	7428	VHL	OMIM:263400
HP:0001342	Cerebral hemorrhage	7428	VHL	OMIM:171300
HP:0001342	Cerebral hemorrhage	7428	VHL	ORPHA:29072
HP:0001342	Cerebral hemorrhage	7428	VHL	ORPHA:276621
HP:0001342	Cerebral hemorrhage	2132	EXT2	OMIM:616682
HP:0001342	Cerebral hemorrhage	2677	GGCX	OMIM:277450
HP:0001342	Cerebral hemorrhage	55654	TMEM127	OMIM:171300
HP:0001342	Cerebral hemorrhage	55654	TMEM127	ORPHA:29072
HP:0001342	Cerebral hemorrhage	4149	MAX	OMIM:171300
HP:0001342	Cerebral hemorrhage	4149	MAX	ORPHA:29072
HP:0001342	Cerebral hemorrhage	5979	RET	OMIM:171300
HP:0001342	Cerebral hemorrhage	5979	RET	ORPHA:29072
HP:0001342	Cerebral hemorrhage	5979	RET	ORPHA:276621
HP:0001342	Cerebral hemorrhage	1743	DLST	ORPHA:29072
HP:0001342	Cerebral hemorrhage	4191	MDH2	ORPHA:29072
HP:0001342	Cerebral hemorrhage	6389	SDHA	ORPHA:29072
HP:0001342	Cerebral hemorrhage	23095	KIF1B	ORPHA:29072
HP:0001342	Cerebral hemorrhage	2271	FH	ORPHA:29072
HP:0001342	Cerebral hemorrhage	8402	SLC25A11	ORPHA:29072
HP:0001342	Cerebral hemorrhage	54949	SDHAF2	ORPHA:29072
HP:0001342	Cerebral hemorrhage	4763	NF1	ORPHA:29072
HP:0001342	Cerebral hemorrhage	6391	SDHC	ORPHA:29072
HP:0001342	Cerebral hemorrhage	6392	SDHD	ORPHA:29072
HP:0001342	Cerebral hemorrhage	6392	SDHD	ORPHA:276621
HP:0001342	Cerebral hemorrhage	6390	SDHB	ORPHA:29072
HP:0001342	Cerebral hemorrhage	6390	SDHB	ORPHA:276621
HP:0001342	Cerebral hemorrhage	8314	BAP1	ORPHA:2495
HP:0001342	Cerebral hemorrhage	4771	NF2	ORPHA:2495
HP:0001342	Cerebral hemorrhage	6598	SMARCB1	ORPHA:2495
HP:0001342	Cerebral hemorrhage	5155	PDGFB	ORPHA:2495
HP:0001342	Cerebral hemorrhage	84231	TRAF7	ORPHA:2495
HP:0001342	Cerebral hemorrhage	6608	SMO	ORPHA:2495
HP:0001342	Cerebral hemorrhage	207	AKT1	ORPHA:2495
HP:0001342	Cerebral hemorrhage	5290	PIK3CA	ORPHA:2495
HP:0001342	Cerebral hemorrhage	5290	PIK3CA	ORPHA:221061
HP:0001342	Cerebral hemorrhage	7015	TERT	ORPHA:2495
HP:0001342	Cerebral hemorrhage	51684	SUFU	ORPHA:2495
HP:0001342	Cerebral hemorrhage	6605	SMARCE1	ORPHA:2495
HP:0001342	Cerebral hemorrhage	8517	IKBKG	OMIM:301081
HP:0001342	Cerebral hemorrhage	3032	HADHB	OMIM:620300
HP:0001342	Cerebral hemorrhage	1282	COL4A1	OMIM:175780
HP:0001342	Cerebral hemorrhage	2335	FN1	ORPHA:84090
HP:0001342	Cerebral hemorrhage	11235	PDCD10	OMIM:603285
HP:0001342	Cerebral hemorrhage	11235	PDCD10	ORPHA:221061
HP:0001342	Cerebral hemorrhage	83605	CCM2	OMIM:603284
HP:0001342	Cerebral hemorrhage	83605	CCM2	ORPHA:221061
HP:0001342	Cerebral hemorrhage	2243	FGA	ORPHA:98880
HP:0001342	Cerebral hemorrhage	2244	FGB	ORPHA:98880
HP:0001342	Cerebral hemorrhage	2266	FGG	ORPHA:98880
HP:0001342	Cerebral hemorrhage	889	KRIT1	ORPHA:221061
HP:0001342	Cerebral hemorrhage	368	ABCC6	OMIM:177850
HP:0001342	Cerebral hemorrhage	2316	FLNA	OMIM:300049
HP:0001342	Cerebral hemorrhage	351	APP	ORPHA:324713
HP:0001342	Cerebral hemorrhage	351	APP	ORPHA:324703
HP:0001342	Cerebral hemorrhage	351	APP	ORPHA:324708
HP:0001342	Cerebral hemorrhage	351	APP	ORPHA:100006
HP:0001342	Cerebral hemorrhage	3075	CFH	ORPHA:244242
HP:0001342	Cerebral hemorrhage	3426	CFI	ORPHA:244242
HP:0001342	Cerebral hemorrhage	4179	CD46	ORPHA:244242
HP:0001342	Cerebral hemorrhage	101101692	HELLPAR	ORPHA:244242
HP:0001342	Cerebral hemorrhage	5627	PROS1	OMIM:614514
HP:0001342	Cerebral hemorrhage	58	ACTA1	OMIM:620278
HP:0001342	Cerebral hemorrhage	2165	F13B	ORPHA:331
HP:0001342	Cerebral hemorrhage	2162	F13A1	ORPHA:331
HP:0001342	Cerebral hemorrhage	4854	NOTCH3	ORPHA:136
HP:0001342	Cerebral hemorrhage	2658	GDF2	ORPHA:774
HP:0001342	Cerebral hemorrhage	4089	SMAD4	ORPHA:774
HP:0001342	Cerebral hemorrhage	2022	ENG	ORPHA:774
HP:0001342	Cerebral hemorrhage	2022	ENG	OMIM:187300
HP:0001342	Cerebral hemorrhage	51816	ADA2	OMIM:182410
HP:0001342	Cerebral hemorrhage	442721	LMOD2	OMIM:619897
HP:0001342	Cerebral hemorrhage	11274	USP18	OMIM:617397
HP:0001342	Cerebral hemorrhage	727676	SNORD118	ORPHA:542310
HP:0001342	Cerebral hemorrhage	6773	STAT2	OMIM:618886
HP:0001342	Cerebral hemorrhage	79184	BRCC3	ORPHA:280679
HP:0001342	Cerebral hemorrhage	1788	DNMT3A	ORPHA:276621
HP:0001342	Cerebral hemorrhage	2034	EPAS1	ORPHA:276621
HP:0001342	Cerebral hemorrhage	9103	FCGR2C	ORPHA:3002
HP:0001342	Cerebral hemorrhage	7543	ZFX	OMIM:301118
HP:0001342	Cerebral hemorrhage	2582	GALE	OMIM:620776
HP:0001342	Cerebral hemorrhage	90952	ESAM	OMIM:620371
HP:0001342	Cerebral hemorrhage	1376	CPT2	OMIM:608836
HP:0001342	Cerebral hemorrhage	54820	NDE1	ORPHA:2177
HP:0001343	Kernicterus	54658	UGT1A1	OMIM:218800
HP:0001343	Kernicterus	54658	UGT1A1	OMIM:237900
HP:0001343	Kernicterus	54658	UGT1A1	ORPHA:79234
HP:0001343	Kernicterus	6007	RHD	OMIM:619462
HP:0001344	Absent speech	2137	EXTL3	ORPHA:508533
HP:0001344	Absent speech	7528	YY1	ORPHA:506358
HP:0001344	Absent speech	29925	GMPPB	OMIM:615350
HP:0001344	Absent speech	104	ADARB1	OMIM:618862
HP:0001344	Absent speech	340533	NEXMIF	OMIM:300912
HP:0001344	Absent speech	340533	NEXMIF	ORPHA:85277
HP:0001344	Absent speech	55823	VPS11	OMIM:616683
HP:0001344	Absent speech	55823	VPS11	ORPHA:466934
HP:0001344	Absent speech	2775	GNAO1	OMIM:615473
HP:0001344	Absent speech	2775	GNAO1	OMIM:617493
HP:0001344	Absent speech	51569	UFM1	OMIM:617899
HP:0001344	Absent speech	23334	SZT2	OMIM:615476
HP:0001344	Absent speech	9254	CACNA2D2	OMIM:618501
HP:0001344	Absent speech	7360	UGP2	OMIM:618744
HP:0001344	Absent speech	81570	CLPB	OMIM:619835
HP:0001344	Absent speech	5927	KDM5A	OMIM:620820
HP:0001344	Absent speech	79848	CSPP1	ORPHA:397715
HP:0001344	Absent speech	9786	KIAA0586	ORPHA:397715
HP:0001344	Absent speech	6873	TAF2	ORPHA:397951
HP:0001344	Absent speech	65993	MRPS34	OMIM:617664
HP:0001344	Absent speech	80816	ASXL3	OMIM:615485
HP:0001344	Absent speech	80816	ASXL3	ORPHA:352577
HP:0001344	Absent speech	283489	CHAMP1	OMIM:616579
HP:0001344	Absent speech	387787	LIPT2	OMIM:617668
HP:0001344	Absent speech	477	ATP1A2	OMIM:619605
HP:0001344	Absent speech	51111	KMT5B	OMIM:617788
HP:0001344	Absent speech	166378	AFG2A	OMIM:616577
HP:0001344	Absent speech	166378	AFG2A	ORPHA:457351
HP:0001344	Absent speech	65082	VPS33A	OMIM:617303
HP:0001344	Absent speech	65082	VPS33A	ORPHA:505248
HP:0001344	Absent speech	10730	YME1L1	OMIM:617302
HP:0001344	Absent speech	55690	PACS1	OMIM:615009
HP:0001344	Absent speech	55690	PACS1	ORPHA:329224
HP:0001344	Absent speech	10565	ARFGEF1	OMIM:619964
HP:0001344	Absent speech	5610	EIF2AK2	OMIM:618877
HP:0001344	Absent speech	28960	DCPS	OMIM:616459
HP:0001344	Absent speech	55768	NGLY1	ORPHA:404454
HP:0001344	Absent speech	7086	TKT	ORPHA:488618
HP:0001344	Absent speech	7086	TKT	OMIM:617044
HP:0001344	Absent speech	57231	SNX14	ORPHA:397709
HP:0001344	Absent speech	57231	SNX14	OMIM:616354
HP:0001344	Absent speech	55650	PIGV	OMIM:239300
HP:0001344	Absent speech	3190	HNRNPK	OMIM:616580
HP:0001344	Absent speech	5832	ALDH18A1	OMIM:616586
HP:0001344	Absent speech	5832	ALDH18A1	OMIM:219150
HP:0001344	Absent speech	55870	ASH1L	OMIM:617796
HP:0001344	Absent speech	7343	UBTF	OMIM:617672
HP:0001344	Absent speech	7343	UBTF	ORPHA:500180
HP:0001344	Absent speech	150094	SIK1	OMIM:616341
HP:0001344	Absent speech	816	CAMK2B	OMIM:617799
HP:0001344	Absent speech	815	CAMK2A	OMIM:617798
HP:0001344	Absent speech	815	CAMK2A	OMIM:618095
HP:0001344	Absent speech	1759	DNM1	OMIM:616346
HP:0001344	Absent speech	3064	HTT	OMIM:617435
HP:0001344	Absent speech	81857	MED25	ORPHA:464738
HP:0001344	Absent speech	2770	GNAI1	OMIM:619854
HP:0001344	Absent speech	170825	GSX2	OMIM:618646
HP:0001344	Absent speech	7920	ABHD16A	OMIM:619735
HP:0001344	Absent speech	8560	DEGS1	OMIM:618404
HP:0001344	Absent speech	83480	PUS3	ORPHA:488627
HP:0001344	Absent speech	5354	PLP1	ORPHA:280210
HP:0001344	Absent speech	23096	IQSEC2	ORPHA:397933
HP:0001344	Absent speech	652	BMP4	OMIM:607932
HP:0001344	Absent speech	283987	HID1	OMIM:619983
HP:0001344	Absent speech	22884	WDR37	OMIM:618652
HP:0001344	Absent speech	1193	CLIC2	ORPHA:324410
HP:0001344	Absent speech	5442	POLRMT	OMIM:619743
HP:0001344	Absent speech	5528	PPP2R5D	OMIM:616355
HP:0001344	Absent speech	5528	PPP2R5D	ORPHA:457279
HP:0001344	Absent speech	23327	NEDD4L	OMIM:617201
HP:0001344	Absent speech	54872	PIGG	ORPHA:488635
HP:0001344	Absent speech	54872	PIGG	OMIM:616917
HP:0001344	Absent speech	28514	DLL1	ORPHA:93926
HP:0001344	Absent speech	28514	DLL1	ORPHA:93924
HP:0001344	Absent speech	28514	DLL1	ORPHA:93925
HP:0001344	Absent speech	28514	DLL1	ORPHA:220386
HP:0001344	Absent speech	2253	FGF8	ORPHA:93926
HP:0001344	Absent speech	2253	FGF8	ORPHA:93924
HP:0001344	Absent speech	2253	FGF8	ORPHA:93925
HP:0001344	Absent speech	2253	FGF8	ORPHA:220386
HP:0001344	Absent speech	6496	SIX3	ORPHA:93926
HP:0001344	Absent speech	6496	SIX3	ORPHA:93924
HP:0001344	Absent speech	6496	SIX3	ORPHA:93925
HP:0001344	Absent speech	6496	SIX3	ORPHA:220386
HP:0001344	Absent speech	7050	TGIF1	ORPHA:93926
HP:0001344	Absent speech	7050	TGIF1	ORPHA:93924
HP:0001344	Absent speech	7050	TGIF1	ORPHA:93925
HP:0001344	Absent speech	7050	TGIF1	ORPHA:220386
HP:0001344	Absent speech	4838	NODAL	ORPHA:93926
HP:0001344	Absent speech	4838	NODAL	ORPHA:93924
HP:0001344	Absent speech	4838	NODAL	ORPHA:93925
HP:0001344	Absent speech	4838	NODAL	ORPHA:220386
HP:0001344	Absent speech	6469	SHH	ORPHA:93926
HP:0001344	Absent speech	6469	SHH	ORPHA:93924
HP:0001344	Absent speech	6469	SHH	ORPHA:93925
HP:0001344	Absent speech	6469	SHH	ORPHA:220386
HP:0001344	Absent speech	7546	ZIC2	ORPHA:93926
HP:0001344	Absent speech	7546	ZIC2	ORPHA:93924
HP:0001344	Absent speech	7546	ZIC2	ORPHA:93925
HP:0001344	Absent speech	7546	ZIC2	ORPHA:220386
HP:0001344	Absent speech	6491	STIL	ORPHA:93926
HP:0001344	Absent speech	6491	STIL	ORPHA:93924
HP:0001344	Absent speech	6491	STIL	ORPHA:93925
HP:0001344	Absent speech	6491	STIL	OMIM:612703
HP:0001344	Absent speech	6491	STIL	ORPHA:220386
HP:0001344	Absent speech	2619	GAS1	ORPHA:93926
HP:0001344	Absent speech	2619	GAS1	ORPHA:93924
HP:0001344	Absent speech	2619	GAS1	ORPHA:93925
HP:0001344	Absent speech	2619	GAS1	ORPHA:220386
HP:0001344	Absent speech	84976	DISP1	ORPHA:93926
HP:0001344	Absent speech	84976	DISP1	ORPHA:93924
HP:0001344	Absent speech	84976	DISP1	ORPHA:93925
HP:0001344	Absent speech	84976	DISP1	ORPHA:220386
HP:0001344	Absent speech	2736	GLI2	ORPHA:93926
HP:0001344	Absent speech	2736	GLI2	ORPHA:93924
HP:0001344	Absent speech	2736	GLI2	ORPHA:93925
HP:0001344	Absent speech	2736	GLI2	ORPHA:220386
HP:0001344	Absent speech	8928	FOXH1	ORPHA:93926
HP:0001344	Absent speech	8928	FOXH1	ORPHA:93924
HP:0001344	Absent speech	8928	FOXH1	ORPHA:93925
HP:0001344	Absent speech	8928	FOXH1	ORPHA:220386
HP:0001344	Absent speech	6997	CRIPTO	ORPHA:93926
HP:0001344	Absent speech	6997	CRIPTO	ORPHA:93924
HP:0001344	Absent speech	6997	CRIPTO	ORPHA:93925
HP:0001344	Absent speech	6997	CRIPTO	ORPHA:220386
HP:0001344	Absent speech	5727	PTCH1	ORPHA:93926
HP:0001344	Absent speech	5727	PTCH1	ORPHA:93924
HP:0001344	Absent speech	5727	PTCH1	ORPHA:93925
HP:0001344	Absent speech	5727	PTCH1	ORPHA:220386
HP:0001344	Absent speech	50937	CDON	ORPHA:93926
HP:0001344	Absent speech	50937	CDON	ORPHA:93924
HP:0001344	Absent speech	50937	CDON	ORPHA:93925
HP:0001344	Absent speech	50937	CDON	ORPHA:220386
HP:0001344	Absent speech	2260	FGFR1	ORPHA:93924
HP:0001344	Absent speech	2260	FGFR1	ORPHA:220386
HP:0001344	Absent speech	11193	WBP4	OMIM:620852
HP:0001344	Absent speech	23007	PLCH1	ORPHA:93925
HP:0001344	Absent speech	10735	STAG2	ORPHA:93925
HP:0001344	Absent speech	10735	STAG2	ORPHA:220386
HP:0001344	Absent speech	6905	TBCE	OMIM:617207
HP:0001344	Absent speech	55361	PI4K2A	OMIM:620732
HP:0001344	Absent speech	26834	RNU4-2	OMIM:620851
HP:0001344	Absent speech	5518	PPP2R1A	OMIM:616362
HP:0001344	Absent speech	5518	PPP2R1A	ORPHA:457284
HP:0001344	Absent speech	1182	CLCN3	OMIM:619512
HP:0001344	Absent speech	1182	CLCN3	OMIM:619517
HP:0001344	Absent speech	3737	KCNA2	OMIM:616366
HP:0001344	Absent speech	84879	MFSD2A	OMIM:616486
HP:0001344	Absent speech	27089	UQCRQ	OMIM:615159
HP:0001344	Absent speech	8363	H4C11	OMIM:619759
HP:0001344	Absent speech	57282	SLC4A10	OMIM:620746
HP:0001344	Absent speech	92609	TIMM50	OMIM:617698
HP:0001344	Absent speech	92609	TIMM50	ORPHA:505216
HP:0001344	Absent speech	4191	MDH2	OMIM:617339
HP:0001344	Absent speech	5590	PRKCZ	ORPHA:1606
HP:0001344	Absent speech	2563	GABRD	ORPHA:1606
HP:0001344	Absent speech	23013	SPEN	ORPHA:1606
HP:0001344	Absent speech	23013	SPEN	OMIM:619312
HP:0001344	Absent speech	8510	MMP23B	ORPHA:1606
HP:0001344	Absent speech	7798	LUZP1	ORPHA:1606
HP:0001344	Absent speech	6497	SKI	ORPHA:1606
HP:0001344	Absent speech	10630	PDPN	ORPHA:1606
HP:0001344	Absent speech	3339	HSPG2	ORPHA:1606
HP:0001344	Absent speech	10277	UBE4B	ORPHA:1606
HP:0001344	Absent speech	8514	KCNAB2	ORPHA:1606
HP:0001344	Absent speech	473	RERE	ORPHA:1606
HP:0001344	Absent speech	63976	PRDM16	ORPHA:1606
HP:0001344	Absent speech	54897	CASZ1	ORPHA:1606
HP:0001344	Absent speech	6134	RPL10	ORPHA:459070
HP:0001344	Absent speech	7337	UBE3A	OMIM:105830
HP:0001344	Absent speech	7337	UBE3A	ORPHA:98794
HP:0001344	Absent speech	7337	UBE3A	ORPHA:411515
HP:0001344	Absent speech	6638	SNRPN	OMIM:105830
HP:0001344	Absent speech	6638	SNRPN	ORPHA:177907
HP:0001344	Absent speech	6638	SNRPN	ORPHA:411515
HP:0001344	Absent speech	1859	DYRK1A	ORPHA:464311
HP:0001344	Absent speech	1859	DYRK1A	ORPHA:268261
HP:0001344	Absent speech	3766	KCNJ10	ORPHA:199343
HP:0001344	Absent speech	51633	OTUD6B	ORPHA:505237
HP:0001344	Absent speech	54828	BCAS3	OMIM:619641
HP:0001344	Absent speech	3800	KIF5C	OMIM:615282
HP:0001344	Absent speech	122961	ISCA2	OMIM:616370
HP:0001344	Absent speech	253959	RALGAPA1	OMIM:618797
HP:0001344	Absent speech	10991	SLC38A3	OMIM:619881
HP:0001344	Absent speech	2904	GRIN2B	OMIM:616139
HP:0001344	Absent speech	6506	SLC1A2	OMIM:617105
HP:0001344	Absent speech	25973	PARS2	OMIM:618437
HP:0001344	Absent speech	9562	MINPP1	OMIM:619527
HP:0001344	Absent speech	6925	TCF4	OMIM:610954
HP:0001344	Absent speech	6925	TCF4	ORPHA:2896
HP:0001344	Absent speech	2258	FGF13	OMIM:301095
HP:0001344	Absent speech	57192	MCOLN1	ORPHA:578
HP:0001344	Absent speech	57192	MCOLN1	OMIM:252650
HP:0001344	Absent speech	10667	FARS2	ORPHA:466722
HP:0001344	Absent speech	23314	SATB2	ORPHA:576283
HP:0001344	Absent speech	23314	SATB2	ORPHA:251028
HP:0001344	Absent speech	23556	PIGN	OMIM:614080
HP:0001344	Absent speech	7030	TFE3	OMIM:301066
HP:0001344	Absent speech	9922	IQSEC1	OMIM:618687
HP:0001344	Absent speech	284098	PIGW	OMIM:616025
HP:0001344	Absent speech	388662	SLC6A17	OMIM:616269
HP:0001344	Absent speech	64919	BCL11B	OMIM:617237
HP:0001344	Absent speech	7994	KAT6A	OMIM:616268
HP:0001344	Absent speech	51227	PIGP	OMIM:617599
HP:0001344	Absent speech	23499	MACF1	OMIM:618325
HP:0001344	Absent speech	51322	WAC	ORPHA:466950
HP:0001344	Absent speech	6595	SMARCA2	OMIM:601358
HP:0001344	Absent speech	6812	STXBP1	ORPHA:599373
HP:0001344	Absent speech	6812	STXBP1	OMIM:612164
HP:0001344	Absent speech	10533	ATG7	OMIM:619422
HP:0001344	Absent speech	51645	PPIL1	OMIM:619301
HP:0001344	Absent speech	8295	TRRAP	OMIM:618454
HP:0001344	Absent speech	1917	EEF1A2	OMIM:616393
HP:0001344	Absent speech	1917	EEF1A2	OMIM:616409
HP:0001344	Absent speech	54903	MKS1	OMIM:249000
HP:0001344	Absent speech	58497	PRUNE1	OMIM:617481
HP:0001344	Absent speech	58497	PRUNE1	ORPHA:544469
HP:0001344	Absent speech	26173	INTS1	OMIM:618571
HP:0001344	Absent speech	55656	INTS8	OMIM:618572
HP:0001344	Absent speech	3658	IREB2	OMIM:618451
HP:0001344	Absent speech	51693	TRAPPC2L	OMIM:618331
HP:0001344	Absent speech	171546	SPTSSA	OMIM:620416
HP:0001344	Absent speech	171546	SPTSSA	OMIM:620417
HP:0001344	Absent speech	5813	PURA	OMIM:616158
HP:0001344	Absent speech	6857	SYT1	OMIM:618218
HP:0001344	Absent speech	6857	SYT1	ORPHA:522077
HP:0001344	Absent speech	81603	TRIM8	OMIM:619428
HP:0001344	Absent speech	5277	PIGA	OMIM:301072
HP:0001344	Absent speech	5277	PIGA	OMIM:300868
HP:0001344	Absent speech	8905	AP1S2	OMIM:304340
HP:0001344	Absent speech	11160	ERLIN2	ORPHA:280384
HP:0001344	Absent speech	11160	ERLIN2	ORPHA:209951
HP:0001344	Absent speech	11160	ERLIN2	OMIM:611225
HP:0001344	Absent speech	84706	GPT2	OMIM:616281
HP:0001344	Absent speech	10059	DNM1L	ORPHA:330050
HP:0001344	Absent speech	8925	HERC1	OMIM:617011
HP:0001344	Absent speech	8925	HERC1	ORPHA:457359
HP:0001344	Absent speech	5898	RALA	OMIM:619311
HP:0001344	Absent speech	79876	UBA5	OMIM:617132
HP:0001344	Absent speech	84894	LINGO1	OMIM:618103
HP:0001344	Absent speech	9759	HDAC4	OMIM:619797
HP:0001344	Absent speech	10785	WDR4	OMIM:618346
HP:0001344	Absent speech	30000	TNPO2	OMIM:619556
HP:0001344	Absent speech	56896	DPYSL5	OMIM:619435
HP:0001344	Absent speech	54892	NCAPG2	OMIM:618460
HP:0001344	Absent speech	23516	SLC39A14	OMIM:617013
HP:0001344	Absent speech	160418	TMTC3	OMIM:617255
HP:0001344	Absent speech	51728	POLR3K	OMIM:619310
HP:0001344	Absent speech	2495	FTH1	OMIM:620669
HP:0001344	Absent speech	8573	CASK	OMIM:300749
HP:0001344	Absent speech	8573	CASK	ORPHA:163937
HP:0001344	Absent speech	92335	STRADA	ORPHA:500533
HP:0001344	Absent speech	92335	STRADA	OMIM:611087
HP:0001344	Absent speech	83548	COG3	OMIM:620546
HP:0001344	Absent speech	51412	ACTL6B	OMIM:618468
HP:0001344	Absent speech	51412	ACTL6B	OMIM:618470
HP:0001344	Absent speech	8818	DPM2	ORPHA:329178
HP:0001344	Absent speech	6323	SCN1A	OMIM:619317
HP:0001344	Absent speech	9526	MPDU1	OMIM:609180
HP:0001344	Absent speech	84320	ACBD6	OMIM:620785
HP:0001344	Absent speech	1605	DAG1	ORPHA:370997
HP:0001344	Absent speech	1605	DAG1	OMIM:616538
HP:0001344	Absent speech	10733	PLK4	OMIM:616171
HP:0001344	Absent speech	1387	CREBBP	ORPHA:353281
HP:0001344	Absent speech	1387	CREBBP	ORPHA:353277
HP:0001344	Absent speech	11277	TREX1	OMIM:225750
HP:0001344	Absent speech	6647	SOD1	OMIM:618598
HP:0001344	Absent speech	57520	HECW2	OMIM:617268
HP:0001344	Absent speech	3745	KCNB1	OMIM:616056
HP:0001344	Absent speech	7453	WARS1	OMIM:620317
HP:0001344	Absent speech	4081	MAB21L1	OMIM:618479
HP:0001344	Absent speech	2033	EP300	ORPHA:353284
HP:0001344	Absent speech	25885	POLR1A	OMIM:620675
HP:0001344	Absent speech	443	ASPA	ORPHA:314911
HP:0001344	Absent speech	154881	KCTD7	OMIM:611726
HP:0001344	Absent speech	29954	POMT2	OMIM:236670
HP:0001344	Absent speech	79147	FKRP	OMIM:236670
HP:0001344	Absent speech	2218	FKTN	OMIM:236670
HP:0001344	Absent speech	10585	POMT1	OMIM:236670
HP:0001344	Absent speech	10585	POMT1	OMIM:613155
HP:0001344	Absent speech	9215	LARGE1	OMIM:236670
HP:0001344	Absent speech	4204	MECP2	ORPHA:778
HP:0001344	Absent speech	4204	MECP2	OMIM:300055
HP:0001344	Absent speech	4204	MECP2	OMIM:300260
HP:0001344	Absent speech	8869	ST3GAL5	OMIM:609056
HP:0001344	Absent speech	6904	TBCD	ORPHA:496641
HP:0001344	Absent speech	6904	TBCD	OMIM:617193
HP:0001344	Absent speech	4948	OCA2	ORPHA:98794
HP:0001344	Absent speech	3192	HNRNPU	OMIM:617391
HP:0001344	Absent speech	55250	ELP2	OMIM:617270
HP:0001344	Absent speech	84340	GFM2	ORPHA:565624
HP:0001344	Absent speech	56915	EXOSC5	OMIM:619576
HP:0001344	Absent speech	23221	RHOBTB2	OMIM:618004
HP:0001344	Absent speech	112939	NACC1	OMIM:617393
HP:0001344	Absent speech	6601	SMARCC2	OMIM:618362
HP:0001344	Absent speech	6601	SMARCC2	ORPHA:1465
HP:0001344	Absent speech	55572	FOXRED1	OMIM:618241
HP:0001344	Absent speech	8120	AP3B2	OMIM:617276
HP:0001344	Absent speech	7965	AIMP2	OMIM:618006
HP:0001344	Absent speech	3376	IARS1	ORPHA:541423
HP:0001344	Absent speech	3376	IARS1	OMIM:617093
HP:0001344	Absent speech	26999	CYFIP2	OMIM:618008
HP:0001344	Absent speech	29920	PYCR2	ORPHA:481152
HP:0001344	Absent speech	29920	PYCR2	OMIM:616420
HP:0001344	Absent speech	3183	HNRNPC	OMIM:620688
HP:0001344	Absent speech	51608	GET4	OMIM:620200
HP:0001344	Absent speech	8604	SLC25A12	OMIM:612949
HP:0001344	Absent speech	6821	SUOX	OMIM:272300
HP:0001344	Absent speech	2898	GRIK2	OMIM:619580
HP:0001344	Absent speech	80311	KLHL15	OMIM:300982
HP:0001344	Absent speech	7703	PCGF2	OMIM:618371
HP:0001344	Absent speech	7319	UBE2A	OMIM:300860
HP:0001344	Absent speech	23258	DENND5A	OMIM:617281
HP:0001344	Absent speech	774	CACNA1B	OMIM:618497
HP:0001344	Absent speech	5631	PRPS1	OMIM:301835
HP:0001344	Absent speech	2906	GRIN2D	OMIM:617162
HP:0001344	Absent speech	9758	FRMPD4	OMIM:300983
HP:0001344	Absent speech	389856	USP27X	OMIM:300984
HP:0001344	Absent speech	1822	ATN1	OMIM:618494
HP:0001344	Absent speech	26040	SETBP1	OMIM:616078
HP:0001344	Absent speech	3188	HNRNPH2	OMIM:300986
HP:0001344	Absent speech	523	ATP6V1A	OMIM:618012
HP:0001344	Absent speech	2257	FGF12	OMIM:617166
HP:0001344	Absent speech	6304	SATB1	OMIM:619229
HP:0001344	Absent speech	1974	EIF4A2	OMIM:620455
HP:0001344	Absent speech	220296	HEPACAM	OMIM:613926
HP:0001344	Absent speech	79718	TBL1XR1	ORPHA:487825
HP:0001344	Absent speech	3028	HSD17B10	ORPHA:391428
HP:0001344	Absent speech	6611	SMS	ORPHA:3063
HP:0001344	Absent speech	10522	DEAF1	OMIM:617171
HP:0001344	Absent speech	10522	DEAF1	ORPHA:468620
HP:0001344	Absent speech	5281	PIGF	OMIM:619356
HP:0001344	Absent speech	2290	FOXG1	ORPHA:261144
HP:0001344	Absent speech	2290	FOXG1	OMIM:613454
HP:0001344	Absent speech	57003	CCDC47	OMIM:618268
HP:0001344	Absent speech	94005	PIGS	OMIM:618143
HP:0001344	Absent speech	6711	SPTBN1	OMIM:619475
HP:0001344	Absent speech	527	ATP6V0C	OMIM:620465
HP:0001344	Absent speech	80036	TRPM3	OMIM:620224
HP:0001344	Absent speech	11198	SUPT16H	OMIM:619480
HP:0001344	Absent speech	10682	EBP	OMIM:300960
HP:0001344	Absent speech	1457	CSNK2A1	OMIM:617062
HP:0001344	Absent speech	10681	GNB5	OMIM:617182
HP:0001344	Absent speech	10681	GNB5	ORPHA:542306
HP:0001344	Absent speech	100147744	RNU7-1	OMIM:619487
HP:0001344	Absent speech	57477	SHROOM4	ORPHA:85288
HP:0001344	Absent speech	22983	MAST1	OMIM:618273
HP:0001344	Absent speech	2566	GABRG2	OMIM:618396
HP:0001344	Absent speech	91875	TTC5	OMIM:619244
HP:0001344	Absent speech	23287	AGTPBP1	OMIM:618276
HP:0001344	Absent speech	79143	MBOAT7	OMIM:617188
HP:0001344	Absent speech	8450	CUL4B	ORPHA:85293
HP:0001344	Absent speech	8450	CUL4B	OMIM:300354
HP:0001344	Absent speech	57038	RARS2	OMIM:611523
HP:0001344	Absent speech	498	ATP5F1A	OMIM:620358
HP:0001344	Absent speech	118924	FRA10AC1	OMIM:620113
HP:0001344	Absent speech	8911	CACNA1I	OMIM:620114
HP:0001344	Absent speech	2799	GNS	OMIM:252940
HP:0001344	Absent speech	2593	GAMT	OMIM:612736
HP:0001344	Absent speech	10479	SLC9A6	ORPHA:85278
HP:0001344	Absent speech	10479	SLC9A6	OMIM:300243
HP:0001344	Absent speech	777	CACNA1E	OMIM:618285
HP:0001344	Absent speech	1315	COPB1	OMIM:619255
HP:0001344	Absent speech	55835	CPAP	OMIM:608393
HP:0001344	Absent speech	8481	OFD1	OMIM:300804
HP:0001344	Absent speech	55005	RMND1	OMIM:614922
HP:0001344	Absent speech	25913	POT1	OMIM:620368
HP:0001344	Absent speech	84081	NSRP1	OMIM:620001
HP:0001344	Absent speech	124454	EARS2	OMIM:614924
HP:0001344	Absent speech	10079	ATP9A	OMIM:620242
HP:0001344	Absent speech	1795	DOCK3	OMIM:618292
HP:0001344	Absent speech	60684	TRAPPC11	ORPHA:369840
HP:0001344	Absent speech	3735	KARS1	OMIM:619147
HP:0001344	Absent speech	3735	KARS1	ORPHA:3240
HP:0001344	Absent speech	27072	VPS41	OMIM:619389
HP:0001344	Absent speech	56947	MFF	OMIM:617086
HP:0001344	Absent speech	8665	EIF3F	OMIM:618295
HP:0001344	Absent speech	1496	CTNNA2	OMIM:618174
HP:0001344	Absent speech	221927	BRAT1	OMIM:618056
HP:0001344	Absent speech	87178	PNPT1	OMIM:614932
HP:0001344	Absent speech	87178	PNPT1	ORPHA:319514
HP:0001344	Absent speech	284111	SLC13A5	OMIM:615905
HP:0001344	Absent speech	199857	ALG14	OMIM:619031
HP:0001344	Absent speech	27183	VPS4A	OMIM:619273
HP:0001344	Absent speech	1183	CLCN4	OMIM:300114
HP:0001344	Absent speech	55503	TRPV6	OMIM:618188
HP:0001344	Absent speech	7109	TRAPPC10	OMIM:620027
HP:0001344	Absent speech	347734	SLC35B2	OMIM:620269
HP:0001344	Absent speech	781	CACNA2D1	OMIM:620149
HP:0001344	Absent speech	55325	UFSP2	OMIM:620028
HP:0001344	Absent speech	1119	CHKA	OMIM:620023
HP:0001344	Absent speech	8496	PPFIBP1	OMIM:620024
HP:0001344	Absent speech	9839	ZEB2	OMIM:235730
HP:0001344	Absent speech	9839	ZEB2	ORPHA:261552
HP:0001344	Absent speech	9839	ZEB2	ORPHA:261537
HP:0001344	Absent speech	23126	POGZ	ORPHA:468678
HP:0001344	Absent speech	4784	NFIX	ORPHA:447980
HP:0001344	Absent speech	4983	OPHN1	OMIM:300486
HP:0001344	Absent speech	6531	SLC6A3	ORPHA:238455
HP:0001344	Absent speech	80232	WDR26	ORPHA:513456
HP:0001344	Absent speech	80232	WDR26	OMIM:617616
HP:0001344	Absent speech	89910	UBE3B	OMIM:244450
HP:0001344	Absent speech	51506	UFC1	OMIM:618076
HP:0001344	Absent speech	80055	PGAP1	OMIM:615802
HP:0001344	Absent speech	2911	GRM1	OMIM:614831
HP:0001344	Absent speech	2911	GRM1	ORPHA:324262
HP:0001344	Absent speech	10847	SRCAP	ORPHA:2044
HP:0001344	Absent speech	5689	PSMB1	OMIM:620038
HP:0001344	Absent speech	57582	KCNT1	OMIM:614959
HP:0001344	Absent speech	10978	CLP1	OMIM:615803
HP:0001344	Absent speech	271	AMPD2	OMIM:615809
HP:0001344	Absent speech	25839	COG4	ORPHA:263501
HP:0001344	Absent speech	25839	COG4	OMIM:613489
HP:0001344	Absent speech	56992	KIF15	ORPHA:261323
HP:0001344	Absent speech	4001	LMNB1	OMIM:619179
HP:0001344	Absent speech	64324	NSD1	OMIM:117550
HP:0001344	Absent speech	64207	IRF2BPL	OMIM:618088
HP:0001344	Absent speech	5119	CHMP1A	OMIM:614961
HP:0001344	Absent speech	55157	DARS2	ORPHA:137898
HP:0001344	Absent speech	93627	TBCK	OMIM:616900
HP:0001344	Absent speech	114034	TOE1	OMIM:614969
HP:0001344	Absent speech	894	CCND2	OMIM:615938
HP:0001344	Absent speech	6597	SMARCA4	OMIM:614609
HP:0001344	Absent speech	6597	SMARCA4	ORPHA:1465
HP:0001344	Absent speech	23116	TOGARAM1	OMIM:619185
HP:0001344	Absent speech	80856	LNPK	OMIM:618090
HP:0001344	Absent speech	79583	TMEM231	OMIM:614970
HP:0001344	Absent speech	79813	EHMT1	OMIM:610253
HP:0001344	Absent speech	10352	WARS2	ORPHA:572798
HP:0001344	Absent speech	10352	WARS2	OMIM:617710
HP:0001344	Absent speech	26005	C2CD3	OMIM:615948
HP:0001344	Absent speech	84947	SERAC1	OMIM:614739
HP:0001344	Absent speech	1798	DPAGT1	ORPHA:86309
HP:0001344	Absent speech	7025	NR2F1	ORPHA:401777
HP:0001344	Absent speech	9255	AIMP1	OMIM:260600
HP:0001344	Absent speech	285175	UNC80	OMIM:616801
HP:0001344	Absent speech	285175	UNC80	ORPHA:371364
HP:0001344	Absent speech	54499	TMCO1	OMIM:213980
HP:0001344	Absent speech	93210	PGAP3	OMIM:615716
HP:0001344	Absent speech	83475	DOHH	OMIM:620066
HP:0001344	Absent speech	6558	SLC12A2	OMIM:619083
HP:0001344	Absent speech	6558	SLC12A2	OMIM:619080
HP:0001344	Absent speech	51611	DPH5	OMIM:620070
HP:0001344	Absent speech	5700	PSMC1	OMIM:620071
HP:0001344	Absent speech	440138	ALG11	OMIM:613661
HP:0001344	Absent speech	9568	GABBR2	OMIM:617903
HP:0001344	Absent speech	9568	GABBR2	OMIM:617904
HP:0001344	Absent speech	64135	IFIH1	OMIM:615846
HP:0001344	Absent speech	10472	ZBTB18	OMIM:612337
HP:0001344	Absent speech	6605	SMARCE1	OMIM:616938
HP:0001344	Absent speech	6605	SMARCE1	ORPHA:1465
HP:0001344	Absent speech	55691	FRMD4A	OMIM:616819
HP:0001344	Absent speech	55691	FRMD4A	ORPHA:466688
HP:0001344	Absent speech	10430	TMEM147	OMIM:620075
HP:0001344	Absent speech	3187	HNRNPH1	OMIM:620083
HP:0001344	Absent speech	158	ADSL	ORPHA:46
HP:0001344	Absent speech	11152	WDR45	OMIM:300894
HP:0001344	Absent speech	7355	SLC35A2	OMIM:300896
HP:0001344	Absent speech	9968	MED12	OMIM:300895
HP:0001344	Absent speech	26047	CNTNAP2	OMIM:610042
HP:0001344	Absent speech	26047	CNTNAP2	ORPHA:163681
HP:0001344	Absent speech	50628	GEMIN4	OMIM:617913
HP:0001344	Absent speech	81887	LAS1L	OMIM:309585
HP:0001344	Absent speech	85440	DOCK7	OMIM:615859
HP:0001344	Absent speech	4208	MEF2C	OMIM:613443
HP:0001344	Absent speech	22907	DHX30	OMIM:617804
HP:0001344	Absent speech	7407	VARS1	OMIM:617802
HP:0001344	Absent speech	9894	TELO2	OMIM:616954
HP:0001344	Absent speech	9894	TELO2	ORPHA:488642
HP:0001344	Absent speech	9230	RAB11B	OMIM:617807
HP:0001344	Absent speech	10075	HUWE1	OMIM:309590
HP:0001344	Absent speech	55906	ZC4H2	OMIM:301041
HP:0001344	Absent speech	8243	SMC1A	OMIM:301044
HP:0001344	Absent speech	8243	SMC1A	ORPHA:220386
HP:0001344	Absent speech	348980	HCN1	OMIM:615871
HP:0001344	Absent speech	23394	ADNP	OMIM:615873
HP:0001344	Absent speech	51807	TUBA8	ORPHA:250972
HP:0001344	Absent speech	6328	SCN3A	OMIM:617938
HP:0001344	Absent speech	22845	DOLK	ORPHA:91131
HP:0001344	Absent speech	79587	CARS2	ORPHA:477774
HP:0001344	Absent speech	84162	BLTP1	OMIM:617822
HP:0001344	Absent speech	2902	GRIN1	OMIM:617820
HP:0001344	Absent speech	2902	GRIN1	OMIM:614254
HP:0001344	Absent speech	7280	TUBB2A	OMIM:615763
HP:0001344	Absent speech	4953	ODC1	ORPHA:544488
HP:0001344	Absent speech	998	CDC42	OMIM:616737
HP:0001344	Absent speech	998	CDC42	ORPHA:487796
HP:0001344	Absent speech	55152	DALRD3	OMIM:618910
HP:0001344	Absent speech	3097	HIVEP2	OMIM:616977
HP:0001344	Absent speech	51010	EXOSC3	OMIM:614678
HP:0001344	Absent speech	6513	SLC2A1	OMIM:608885
HP:0001344	Absent speech	2561	GABRB2	OMIM:617829
HP:0001344	Absent speech	2891	GRIA2	OMIM:618917
HP:0001344	Absent speech	54808	DYM	OMIM:223800
HP:0001344	Absent speech	23732	FRRS1L	OMIM:616981
HP:0001344	Absent speech	8831	SYNGAP1	ORPHA:544254
HP:0001344	Absent speech	9512	PMPCB	OMIM:617954
HP:0001344	Absent speech	5530	PPP3CA	OMIM:617711
HP:0001344	Absent speech	7874	USP7	OMIM:616863
HP:0001344	Absent speech	7874	USP7	ORPHA:500055
HP:0001344	Absent speech	6598	SMARCB1	ORPHA:1465
HP:0001344	Absent speech	6659	SOX4	ORPHA:1465
HP:0001344	Absent speech	8289	ARID1A	ORPHA:1465
HP:0001344	Absent speech	5977	DPF2	ORPHA:1465
HP:0001344	Absent speech	6602	SMARCD1	ORPHA:1465
HP:0001344	Absent speech	57492	ARID1B	ORPHA:1465
HP:0001344	Absent speech	196528	ARID2	ORPHA:1465
HP:0001344	Absent speech	6664	SOX11	ORPHA:1465
HP:0001344	Absent speech	4915	NTRK2	OMIM:617830
HP:0001344	Absent speech	27315	PGAP2	OMIM:614207
HP:0001344	Absent speech	259232	NALCN	OMIM:615419
HP:0001344	Absent speech	259232	NALCN	ORPHA:371364
HP:0001344	Absent speech	51185	CRBN	OMIM:607417
HP:0001344	Absent speech	10943	MSL3	OMIM:301032
HP:0001344	Absent speech	84342	COG8	OMIM:611182
HP:0001344	Absent speech	56479	KCNQ5	OMIM:617601
HP:0001344	Absent speech	54664	TMEM106B	OMIM:617964
HP:0001344	Absent speech	128637	TBC1D20	OMIM:615663
HP:0001344	Absent speech	55969	RAB5IF	OMIM:616994
HP:0001344	Absent speech	128989	TANGO2	OMIM:616878
HP:0001344	Absent speech	54551	MAGEL2	OMIM:615547
HP:0001344	Absent speech	51501	HIKESHI	OMIM:616881
HP:0001344	Absent speech	55180	LINS1	OMIM:614340
HP:0001344	Absent speech	22866	CNKSR2	OMIM:301008
HP:0001344	Absent speech	10815	CPLX1	OMIM:617976
HP:0001344	Absent speech	3747	KCNC2	OMIM:619913
HP:0001344	Absent speech	1213	CLTC	OMIM:617854
HP:0001344	Absent speech	25782	RAB3GAP2	OMIM:614225
HP:0001344	Absent speech	1861	TOR1A	OMIM:618947
HP:0001344	Absent speech	22931	RAB18	OMIM:614222
HP:0001344	Absent speech	56270	WDR45B	OMIM:617977
HP:0001344	Absent speech	26576	SRPK3	OMIM:301134
HP:0001344	Absent speech	6182	MRPL12	OMIM:618951
HP:0001344	Absent speech	200894	ARL13B	OMIM:612291
HP:0001344	Absent speech	122553	TRAPPC6B	OMIM:617862
HP:0001344	Absent speech	9918	NCAPD2	OMIM:617983
HP:0001344	Absent speech	7204	TRIO	ORPHA:476126
HP:0001344	Absent speech	57688	ZSWIM6	OMIM:617865
HP:0001344	Absent speech	1806	DPYD	ORPHA:1675
HP:0001344	Absent speech	2893	GRIA4	OMIM:617864
HP:0001344	Absent speech	79867	TCTN2	OMIM:616654
HP:0001344	Absent speech	81562	LMAN2L	OMIM:617863
HP:0001344	Absent speech	2890	GRIA1	OMIM:619927
HP:0001344	Absent speech	2890	GRIA1	OMIM:619931
HP:0001344	Absent speech	54805	CNNM2	OMIM:616418
HP:0001344	Absent speech	55704	CCDC88A	OMIM:617507
HP:0001344	Absent speech	55164	SHQ1	OMIM:619922
HP:0001344	Absent speech	6509	SLC1A4	OMIM:616657
HP:0001344	Absent speech	84628	NTNG2	OMIM:618718
HP:0001344	Absent speech	3756	KCNH1	ORPHA:420561
HP:0001344	Absent speech	51	ACOX1	OMIM:618960
HP:0001344	Absent speech	54888	NSUN2	OMIM:611091
HP:0001344	Absent speech	54802	TRIT1	OMIM:617873
HP:0001344	Absent speech	5879	RAC1	OMIM:617751
HP:0001344	Absent speech	5879	RAC1	ORPHA:500159
HP:0001344	Absent speech	9197	SLC33A1	OMIM:614482
HP:0001344	Absent speech	84631	SLITRK2	OMIM:301107
HP:0001344	Absent speech	2806	GOT2	OMIM:618721
HP:0001344	Absent speech	9439	MED23	OMIM:614249
HP:0001344	Absent speech	57731	SPTBN4	OMIM:617519
HP:0001344	Absent speech	2639	GCDH	OMIM:231670
HP:0001344	Absent speech	547	KIF1A	OMIM:614255
HP:0001344	Absent speech	9373	PLAA	OMIM:617527
HP:0001344	Absent speech	57194	ATP10A	ORPHA:411515
HP:0001344	Absent speech	9990	SLC12A6	OMIM:218000
HP:0001345	Psychotic mentation	1137	CHRNA4	ORPHA:98784
HP:0001345	Psychotic mentation	1135	CHRNA2	ORPHA:98784
HP:0001345	Psychotic mentation	57010	CABP4	ORPHA:98784
HP:0001345	Psychotic mentation	1141	CHRNB2	ORPHA:98784
HP:0001345	Psychotic mentation	57582	KCNT1	ORPHA:98784
HP:0001345	Psychotic mentation	1392	CRH	ORPHA:98784
HP:0001345	Psychotic mentation	9681	DEPDC5	ORPHA:98784
HP:0001345	Psychotic mentation	2937	GSS	OMIM:266130
HP:0001345	Psychotic mentation	9049	AIP	OMIM:219090
HP:0001345	Psychotic mentation	9101	USP8	OMIM:219090
HP:0001345	Psychotic mentation	4558	MT-TF	ORPHA:550
HP:0001345	Psychotic mentation	4572	MT-TQ	ORPHA:550
HP:0001345	Psychotic mentation	4512	MT-CO1	ORPHA:550
HP:0001345	Psychotic mentation	4513	MT-CO2	ORPHA:550
HP:0001345	Psychotic mentation	4514	MT-CO3	ORPHA:550
HP:0001345	Psychotic mentation	4578	MT-TW	ORPHA:550
HP:0001345	Psychotic mentation	4540	MT-ND5	ORPHA:550
HP:0001345	Psychotic mentation	4541	MT-ND6	ORPHA:550
HP:0001345	Psychotic mentation	4535	MT-ND1	ORPHA:550
HP:0001345	Psychotic mentation	4538	MT-ND4	ORPHA:550
HP:0001345	Psychotic mentation	4567	MT-TL1	ORPHA:550
HP:0001345	Psychotic mentation	4574	MT-TS1	ORPHA:550
HP:0001345	Psychotic mentation	4575	MT-TS2	ORPHA:550
HP:0001345	Psychotic mentation	4564	MT-TH	ORPHA:550
HP:0001345	Psychotic mentation	9896	FIG4	ORPHA:208441
HP:0001345	Psychotic mentation	4524	MTHFR	ORPHA:395
HP:0001345	Psychotic mentation	23732	FRRS1L	ORPHA:725
HP:0001345	Psychotic mentation	2903	GRIN2A	ORPHA:725
HP:0001345	Psychotic mentation	8659	ALDH4A1	ORPHA:79101
HP:0001348	Brisk reflexes	158	ADSL	OMIM:103050
HP:0001348	Brisk reflexes	4728	NDUFS8	OMIM:618222
HP:0001348	Brisk reflexes	10466	COG5	ORPHA:263487
HP:0001348	Brisk reflexes	8367	H4C5	OMIM:619950
HP:0001348	Brisk reflexes	10785	WDR4	OMIM:618346
HP:0001348	Brisk reflexes	6683	SPAST	ORPHA:100985
HP:0001348	Brisk reflexes	4574	MT-TS1	OMIM:220110
HP:0001348	Brisk reflexes	4574	MT-TS1	ORPHA:663
HP:0001348	Brisk reflexes	4570	MT-TN	OMIM:220110
HP:0001348	Brisk reflexes	4570	MT-TN	ORPHA:663
HP:0001348	Brisk reflexes	6834	SURF1	OMIM:220110
HP:0001348	Brisk reflexes	5393	EXOSC9	OMIM:618065
HP:0001348	Brisk reflexes	23516	SLC39A14	OMIM:617013
HP:0001348	Brisk reflexes	27247	NFU1	OMIM:620938
HP:0001348	Brisk reflexes	57704	GBA2	ORPHA:352641
HP:0001348	Brisk reflexes	6418	SET	OMIM:618106
HP:0001348	Brisk reflexes	5832	ALDH18A1	OMIM:616603
HP:0001348	Brisk reflexes	5832	ALDH18A1	ORPHA:90348
HP:0001348	Brisk reflexes	6323	SCN1A	OMIM:619317
HP:0001348	Brisk reflexes	9256	TSPOAP1	ORPHA:101150
HP:0001348	Brisk reflexes	7054	TH	ORPHA:101150
HP:0001348	Brisk reflexes	5457	POU4F1	ORPHA:314647
HP:0001348	Brisk reflexes	23261	CAMTA1	ORPHA:314647
HP:0001348	Brisk reflexes	4568	MT-TL2	ORPHA:663
HP:0001348	Brisk reflexes	4567	MT-TL1	ORPHA:663
HP:0001348	Brisk reflexes	26580	BSCL2	ORPHA:363400
HP:0001348	Brisk reflexes	81790	RNF170	OMIM:619686
HP:0001348	Brisk reflexes	56997	COQ8A	ORPHA:139485
HP:0001348	Brisk reflexes	1352	COX10	OMIM:619046
HP:0001348	Brisk reflexes	10157	AASS	ORPHA:2203
HP:0001348	Brisk reflexes	3035	HARS1	ORPHA:488333
HP:0001348	Brisk reflexes	2067	ERCC1	OMIM:610758
HP:0001348	Brisk reflexes	1353	COX11	OMIM:620275
HP:0001348	Brisk reflexes	84679	SLC9A7	OMIM:301024
HP:0001348	Brisk reflexes	284403	WDR62	OMIM:604317
HP:0001348	Brisk reflexes	4784	NFIX	OMIM:602535
HP:0001348	Brisk reflexes	65055	REEP1	ORPHA:101011
HP:0001348	Brisk reflexes	25929	GEMIN5	OMIM:619333
HP:0001348	Brisk reflexes	2660	MSTN	OMIM:614160
HP:0001348	Brisk reflexes	5119	CHMP1A	OMIM:614961
HP:0001348	Brisk reflexes	64834	ELOVL1	OMIM:618527
HP:0001348	Brisk reflexes	8622	PDE8B	OMIM:609161
HP:0001348	Brisk reflexes	54834	GDAP2	OMIM:618369
HP:0001348	Brisk reflexes	3778	KCNMA1	OMIM:609446
HP:0001348	Brisk reflexes	7555	CNBP	ORPHA:606
HP:0001348	Brisk reflexes	23400	ATP13A2	OMIM:606693
HP:0001348	Brisk reflexes	9377	COX5A	OMIM:619064
HP:0001348	Brisk reflexes	11315	PARK7	OMIM:606324
HP:0001348	Brisk reflexes	23203	PMPCA	ORPHA:1170
HP:0001348	Brisk reflexes	4697	NDUFA4	OMIM:619065
HP:0001348	Brisk reflexes	5277	PIGA	OMIM:300868
HP:0001348	Brisk reflexes	132158	GLYCTK	OMIM:220120
HP:0001348	Brisk reflexes	833	CARS1	OMIM:618891
HP:0001348	Brisk reflexes	246243	RNASEH1	OMIM:616479
HP:0001348	Brisk reflexes	54664	TMEM106B	OMIM:617964
HP:0001348	Brisk reflexes	128989	TANGO2	OMIM:616878
HP:0001348	Brisk reflexes	8398	PLA2G6	OMIM:612953
HP:0001348	Brisk reflexes	55361	PI4K2A	OMIM:620732
HP:0001348	Brisk reflexes	9152	SLC6A5	OMIM:614618
HP:0001348	Brisk reflexes	113278	SLC52A3	OMIM:211530
HP:0001348	Brisk reflexes	1267	CNP	OMIM:619071
HP:0001348	Brisk reflexes	2911	GRM1	OMIM:617691
HP:0001348	Brisk reflexes	56006	SMG9	OMIM:619995
HP:0001348	Brisk reflexes	5063	PAK3	OMIM:300558
HP:0001348	Brisk reflexes	6711	SPTBN1	OMIM:619475
HP:0001348	Brisk reflexes	58494	JAM2	OMIM:618824
HP:0001348	Brisk reflexes	2643	GCH1	ORPHA:98808
HP:0001348	Brisk reflexes	4929	NR4A2	ORPHA:98808
HP:0001348	Brisk reflexes	3615	IMPDH2	ORPHA:98808
HP:0001348	Brisk reflexes	2517	FUCA1	OMIM:230000
HP:0001348	Brisk reflexes	57863	CADM3	OMIM:619519
HP:0001348	Brisk reflexes	91461	PKDCC	OMIM:618821
HP:0001348	Brisk reflexes	90624	LYRM7	OMIM:615838
HP:0001348	Brisk reflexes	166785	MMAA	OMIM:251100
HP:0001348	Brisk reflexes	23137	SMC5	OMIM:620185
HP:0001348	Brisk reflexes	1737	DLAT	OMIM:245348
HP:0001348	Brisk reflexes	2521	FUS	ORPHA:300605
HP:0001348	Brisk reflexes	80208	SPG11	ORPHA:300605
HP:0001348	Brisk reflexes	10280	SIGMAR1	ORPHA:300605
HP:0001348	Brisk reflexes	10558	SPTLC1	ORPHA:300605
HP:0001348	Brisk reflexes	57679	ALS2	ORPHA:300605
HP:0001348	Brisk reflexes	1615	DARS1	OMIM:615281
HP:0001348	Brisk reflexes	51124	IER3IP1	OMIM:614231
HP:0001348	Brisk reflexes	9474	ATG5	OMIM:617584
HP:0001348	Brisk reflexes	22	ABCB7	ORPHA:2802
HP:0001348	Brisk reflexes	9409	PEX16	OMIM:614877
HP:0001348	Brisk reflexes	3708	ITPR1	OMIM:117360
HP:0001348	Brisk reflexes	10531	PITRM1	OMIM:619405
HP:0001348	Brisk reflexes	6509	SLC1A4	OMIM:616657
HP:0001348	Brisk reflexes	54676	GTPBP2	OMIM:617988
HP:0001348	Brisk reflexes	84919	PPP1R15B	OMIM:616817
HP:0001348	Brisk reflexes	84919	PPP1R15B	ORPHA:391408
HP:0001348	Brisk reflexes	7443	VRK1	OMIM:607596
HP:0001348	Brisk reflexes	93587	TRMT10A	ORPHA:391408
HP:0001348	Brisk reflexes	2799	GNS	OMIM:252940
HP:0001348	Brisk reflexes	55129	ANO10	ORPHA:284289
HP:0001348	Brisk reflexes	6904	TBCD	OMIM:617193
HP:0001348	Brisk reflexes	57479	PRR12	OMIM:619539
HP:0001348	Brisk reflexes	2733	GLE1	OMIM:611890
HP:0001348	Brisk reflexes	2006	ELN	ORPHA:90348
HP:0001348	Brisk reflexes	10516	FBLN5	ORPHA:90348
HP:0001348	Brisk reflexes	7415	VCP	OMIM:613954
HP:0001348	Brisk reflexes	5824	PEX19	OMIM:614886
HP:0001348	Brisk reflexes	85021	REPS1	OMIM:617916
HP:0001348	Brisk reflexes	3954	LETM1	OMIM:620089
HP:0001348	Brisk reflexes	6567	SLC16A2	ORPHA:59
HP:0001348	Brisk reflexes	2512	FTL	ORPHA:157846
HP:0001348	Brisk reflexes	64432	MRPS25	OMIM:619025
HP:0001348	Brisk reflexes	587	BCAT2	OMIM:618850
HP:0001348	Brisk reflexes	51645	PPIL1	OMIM:619301
HP:0001348	Brisk reflexes	51362	CDC40	OMIM:619302
HP:0001348	Brisk reflexes	84274	COQ5	OMIM:619028
HP:0001348	Brisk reflexes	10844	TUBGCP2	OMIM:618737
HP:0000481	Abnormal cornea morphology	27019	DNAI1	OMIM:244400
HP:0000481	Abnormal cornea morphology	3909	LAMA3	ORPHA:79404
HP:0000481	Abnormal cornea morphology	3918	LAMC2	ORPHA:79404
HP:0000481	Abnormal cornea morphology	3914	LAMB3	ORPHA:79404
HP:0000481	Abnormal cornea morphology	1277	COL1A1	ORPHA:287
HP:0000481	Abnormal cornea morphology	1289	COL5A1	ORPHA:287
HP:0000481	Abnormal cornea morphology	1290	COL5A2	ORPHA:287
HP:0000481	Abnormal cornea morphology	5308	PITX2	OMIM:180550
HP:0000481	Abnormal cornea morphology	84627	ZNF469	OMIM:229200
HP:0000481	Abnormal cornea morphology	1497	CTNS	ORPHA:411634
HP:0000481	Abnormal cornea morphology	1497	CTNS	ORPHA:411629
HP:0000481	Abnormal cornea morphology	51715	RAB23	ORPHA:65759
HP:0000481	Abnormal cornea morphology	1954	MEGF8	ORPHA:65759
HP:0000481	Abnormal cornea morphology	2316	FLNA	ORPHA:1826
HP:0000481	Abnormal cornea morphology	6885	MAP3K7	ORPHA:1826
HP:0000481	Abnormal cornea morphology	7045	TGFBI	ORPHA:98964
HP:0000481	Abnormal cornea morphology	5309	PITX3	OMIM:107250
HP:0000481	Abnormal cornea morphology	2074	ERCC6	OMIM:133540
HP:0000481	Abnormal cornea morphology	2074	ERCC6	ORPHA:90324
HP:0000481	Abnormal cornea morphology	6309	SC5D	ORPHA:46059
HP:0000481	Abnormal cornea morphology	5351	PLOD1	OMIM:225400
HP:0000481	Abnormal cornea morphology	5351	PLOD1	ORPHA:1900
HP:0000481	Abnormal cornea morphology	1161	ERCC8	ORPHA:90324
HP:0000481	Abnormal cornea morphology	81857	MED25	OMIM:616449
HP:0000481	Abnormal cornea morphology	81857	MED25	ORPHA:464738
HP:0000481	Abnormal cornea morphology	406960	MIR184	OMIM:614303
HP:0000481	Abnormal cornea morphology	10586	MAB21L2	OMIM:615877
HP:0000481	Abnormal cornea morphology	7473	WNT3	ORPHA:3301
HP:0000481	Abnormal cornea morphology	340419	RSPO2	ORPHA:3301
HP:0000481	Abnormal cornea morphology	9496	TBX4	ORPHA:3301
HP:0000481	Abnormal cornea morphology	9839	ZEB2	OMIM:235730
HP:0000481	Abnormal cornea morphology	9839	ZEB2	ORPHA:261552
HP:0000481	Abnormal cornea morphology	9401	RECQL4	OMIM:268400
HP:0000481	Abnormal cornea morphology	4010	LMX1B	OMIM:161200
HP:0000481	Abnormal cornea morphology	10733	PLK4	OMIM:616171
HP:0000481	Abnormal cornea morphology	9150	CTDP1	OMIM:604168
HP:0000481	Abnormal cornea morphology	9150	CTDP1	ORPHA:48431
HP:0000481	Abnormal cornea morphology	89910	UBE3B	OMIM:244450
HP:0000481	Abnormal cornea morphology	89910	UBE3B	ORPHA:2707
HP:0000481	Abnormal cornea morphology	8085	KMT2D	ORPHA:2322
HP:0000481	Abnormal cornea morphology	7403	KDM6A	ORPHA:2322
HP:0000481	Abnormal cornea morphology	3149	HMGB3	OMIM:300915
HP:0000481	Abnormal cornea morphology	387700	SLC16A12	OMIM:612018
HP:0000481	Abnormal cornea morphology	2314	FLII	ORPHA:819
HP:0000481	Abnormal cornea morphology	23096	IQSEC2	ORPHA:819
HP:0000481	Abnormal cornea morphology	10743	RAI1	ORPHA:819
HP:0000481	Abnormal cornea morphology	10522	DEAF1	ORPHA:819
HP:0000481	Abnormal cornea morphology	10982	MAPRE2	OMIM:616734
HP:0000481	Abnormal cornea morphology	10982	MAPRE2	ORPHA:2505
HP:0000481	Abnormal cornea morphology	55033	FKBP14	OMIM:614557
HP:0000481	Abnormal cornea morphology	55033	FKBP14	ORPHA:300179
HP:0000481	Abnormal cornea morphology	4286	MITF	OMIM:617306
HP:0000481	Abnormal cornea morphology	2187	FANCB	ORPHA:3412
HP:0000481	Abnormal cornea morphology	4810	NHS	OMIM:302350
HP:0000481	Abnormal cornea morphology	4810	NHS	ORPHA:627
HP:0000481	Abnormal cornea morphology	22930	RAB3GAP1	OMIM:600118
HP:0000481	Abnormal cornea morphology	22930	RAB3GAP1	ORPHA:2510
HP:0000481	Abnormal cornea morphology	54880	BCOR	ORPHA:2712
HP:0000481	Abnormal cornea morphology	54880	BCOR	ORPHA:568
HP:0000481	Abnormal cornea morphology	54880	BCOR	OMIM:309800
HP:0000481	Abnormal cornea morphology	54880	BCOR	OMIM:300166
HP:0000481	Abnormal cornea morphology	5015	OTX2	OMIM:610125
HP:0000481	Abnormal cornea morphology	2248	FGF3	ORPHA:2791
HP:0000481	Abnormal cornea morphology	1063	CENPF	OMIM:243605
HP:0000481	Abnormal cornea morphology	646960	PRSS56	OMIM:613517
HP:0000481	Abnormal cornea morphology	8260	NAA10	ORPHA:568
HP:0000481	Abnormal cornea morphology	8260	NAA10	OMIM:309800
HP:0000481	Abnormal cornea morphology	84314	TMEM107	ORPHA:564
HP:0000481	Abnormal cornea morphology	26123	TCTN3	ORPHA:564
HP:0000481	Abnormal cornea morphology	79867	TCTN2	ORPHA:564
HP:0000481	Abnormal cornea morphology	80776	B9D2	ORPHA:564
HP:0000481	Abnormal cornea morphology	79600	TCTN1	ORPHA:564
HP:0000481	Abnormal cornea morphology	57096	RPGRIP1	ORPHA:564
HP:0000481	Abnormal cornea morphology	79848	CSPP1	ORPHA:564
HP:0000481	Abnormal cornea morphology	80184	CEP290	ORPHA:564
HP:0000481	Abnormal cornea morphology	51259	TMEM216	ORPHA:564
HP:0000481	Abnormal cornea morphology	57545	CC2D2A	ORPHA:564
HP:0000481	Abnormal cornea morphology	79583	TMEM231	ORPHA:564
HP:0000481	Abnormal cornea morphology	91147	TMEM67	ORPHA:564
HP:0000481	Abnormal cornea morphology	79770	TXNDC15	ORPHA:564
HP:0000481	Abnormal cornea morphology	27077	B9D1	ORPHA:564
HP:0000481	Abnormal cornea morphology	23322	RPGRIP1L	ORPHA:564
HP:0000481	Abnormal cornea morphology	54903	MKS1	ORPHA:564
HP:0000481	Abnormal cornea morphology	65062	TMEM237	ORPHA:564
HP:0000481	Abnormal cornea morphology	652	BMP4	OMIM:607932
HP:0000481	Abnormal cornea morphology	652	BMP4	ORPHA:139471
HP:0000481	Abnormal cornea morphology	55714	TENM3	OMIM:615145
HP:0000481	Abnormal cornea morphology	10682	EBP	ORPHA:35173
HP:0000481	Abnormal cornea morphology	128637	TBC1D20	OMIM:615663
HP:0000481	Abnormal cornea morphology	128637	TBC1D20	ORPHA:2510
HP:0000481	Abnormal cornea morphology	5950	RBP4	OMIM:615147
HP:0000481	Abnormal cornea morphology	7020	TFAP2A	ORPHA:1297
HP:0000481	Abnormal cornea morphology	57167	SALL4	ORPHA:959
HP:0000481	Abnormal cornea morphology	57167	SALL4	ORPHA:233
HP:0000481	Abnormal cornea morphology	2313	FLI1	ORPHA:2308
HP:0000481	Abnormal cornea morphology	79718	TBL1XR1	ORPHA:487825
HP:0000481	Abnormal cornea morphology	79718	TBL1XR1	OMIM:602342
HP:0000481	Abnormal cornea morphology	668	FOXL2	OMIM:110100
HP:0000481	Abnormal cornea morphology	1123	CHN1	ORPHA:233
HP:0000481	Abnormal cornea morphology	23476	BRD4	ORPHA:199
HP:0000481	Abnormal cornea morphology	9126	SMC3	ORPHA:199
HP:0000481	Abnormal cornea morphology	8243	SMC1A	ORPHA:199
HP:0000481	Abnormal cornea morphology	6878	TAF6	ORPHA:199
HP:0000481	Abnormal cornea morphology	25836	NIPBL	ORPHA:199
HP:0000481	Abnormal cornea morphology	25836	NIPBL	OMIM:122470
HP:0000481	Abnormal cornea morphology	55869	HDAC8	ORPHA:199
HP:0000481	Abnormal cornea morphology	5885	RAD21	ORPHA:199
HP:0000481	Abnormal cornea morphology	10664	CTCF	ORPHA:363611
HP:0000481	Abnormal cornea morphology	25782	RAB3GAP2	OMIM:614225
HP:0000481	Abnormal cornea morphology	25782	RAB3GAP2	ORPHA:2510
HP:0000481	Abnormal cornea morphology	22931	RAB18	OMIM:614222
HP:0000481	Abnormal cornea morphology	22931	RAB18	ORPHA:2510
HP:0000481	Abnormal cornea morphology	286	ANK1	ORPHA:251066
HP:0000481	Abnormal cornea morphology	113189	CHST14	OMIM:601776
HP:0000481	Abnormal cornea morphology	136647	MPLKIP	OMIM:234050
HP:0000481	Abnormal cornea morphology	136647	MPLKIP	ORPHA:33364
HP:0000481	Abnormal cornea morphology	402	ARL2	OMIM:619082
HP:0000481	Abnormal cornea morphology	203068	TUBB	OMIM:156610
HP:0000481	Abnormal cornea morphology	203068	TUBB	ORPHA:2505
HP:0000481	Abnormal cornea morphology	1806	DPYD	ORPHA:1675
HP:0000481	Abnormal cornea morphology	182	JAG1	OMIM:118450
HP:0000481	Abnormal cornea morphology	57479	PRR12	OMIM:619539
HP:0000481	Abnormal cornea morphology	92344	GORAB	ORPHA:2078
HP:0000481	Abnormal cornea morphology	5831	PYCR1	ORPHA:2078
HP:0000481	Abnormal cornea morphology	170692	ADAMTS18	OMIM:615458
HP:0000481	Abnormal cornea morphology	2961	GTF2E2	OMIM:616943
HP:0000481	Abnormal cornea morphology	2961	GTF2E2	ORPHA:33364
HP:0000481	Abnormal cornea morphology	404672	GTF2H5	ORPHA:33364
HP:0000481	Abnormal cornea morphology	833	CARS1	ORPHA:33364
HP:0000481	Abnormal cornea morphology	7737	RNF113A	ORPHA:33364
HP:0000481	Abnormal cornea morphology	6897	TARS1	ORPHA:33364
HP:0000481	Abnormal cornea morphology	16	AARS1	ORPHA:33364
HP:0000481	Abnormal cornea morphology	2071	ERCC3	ORPHA:33364
HP:0000481	Abnormal cornea morphology	3339	HSPG2	OMIM:255800
HP:0000481	Abnormal cornea morphology	3339	HSPG2	ORPHA:800
HP:0000481	Abnormal cornea morphology	3166	HMX1	OMIM:612109
HP:0000481	Abnormal cornea morphology	71	ACTG1	ORPHA:2995
HP:0000481	Abnormal cornea morphology	60	ACTB	ORPHA:2995
HP:0000481	Abnormal cornea morphology	50945	TBX22	ORPHA:921
HP:0000481	Abnormal cornea morphology	6913	TBX15	OMIM:260660
HP:0000481	Abnormal cornea morphology	7439	BEST1	OMIM:193220
HP:0000481	Abnormal cornea morphology	7528	YY1	ORPHA:506358
HP:0000481	Abnormal cornea morphology	778	CACNA1F	OMIM:300476
HP:0000481	Abnormal cornea morphology	778	CACNA1F	ORPHA:178333
HP:0000481	Abnormal cornea morphology	778	CACNA1F	OMIM:300600
HP:0000481	Abnormal cornea morphology	8036	SHOC2	OMIM:607721
HP:0000481	Abnormal cornea morphology	5076	PAX2	ORPHA:97362
HP:0000481	Abnormal cornea morphology	5087	PBX1	ORPHA:97362
HP:0000481	Abnormal cornea morphology	23394	ADNP	ORPHA:404448
HP:0000481	Abnormal cornea morphology	23394	ADNP	OMIM:615873
HP:0000481	Abnormal cornea morphology	4099	MAG	OMIM:616680
HP:0000481	Abnormal cornea morphology	4099	MAG	ORPHA:459056
HP:0000481	Abnormal cornea morphology	51256	TBC1D7	OMIM:248000
HP:0000481	Abnormal cornea morphology	9759	HDAC4	OMIM:619797
HP:0000481	Abnormal cornea morphology	30000	TNPO2	OMIM:619556
HP:0000481	Abnormal cornea morphology	9158	FIBP	ORPHA:500095
HP:0000481	Abnormal cornea morphology	23241	PACS2	OMIM:618067
HP:0000481	Abnormal cornea morphology	10765	KDM5B	OMIM:618109
HP:0000481	Abnormal cornea morphology	64116	SLC39A8	OMIM:616721
HP:0000481	Abnormal cornea morphology	64116	SLC39A8	ORPHA:468699
HP:0000481	Abnormal cornea morphology	7299	TYR	OMIM:203100
HP:0000481	Abnormal cornea morphology	54973	INTS11	OMIM:620428
HP:0000481	Abnormal cornea morphology	3008	H1-4	OMIM:617537
HP:0000481	Abnormal cornea morphology	253738	EBF3	ORPHA:96148
HP:0000481	Abnormal cornea morphology	253738	EBF3	OMIM:617330
HP:0000481	Abnormal cornea morphology	7003	TEAD1	OMIM:108985
HP:0000481	Abnormal cornea morphology	4076	CAPRIN1	OMIM:620782
HP:0000481	Abnormal cornea morphology	90459	ERI1	OMIM:620662
HP:0000481	Abnormal cornea morphology	118987	PDZD8	OMIM:620021
HP:0000481	Abnormal cornea morphology	2202	EFEMP1	OMIM:620780
HP:0000481	Abnormal cornea morphology	1299	COL9A3	OMIM:620022
HP:0000481	Abnormal cornea morphology	1299	COL9A3	ORPHA:250984
HP:0000481	Abnormal cornea morphology	23126	POGZ	ORPHA:468678
HP:0000481	Abnormal cornea morphology	23126	POGZ	OMIM:616364
HP:0000481	Abnormal cornea morphology	64324	NSD1	ORPHA:821
HP:0000481	Abnormal cornea morphology	10297	APC2	ORPHA:821
HP:0000481	Abnormal cornea morphology	5575	PRKAR1B	OMIM:619680
HP:0000481	Abnormal cornea morphology	55209	SETD5	OMIM:615761
HP:0000481	Abnormal cornea morphology	473	RERE	OMIM:616975
HP:0000481	Abnormal cornea morphology	473	RERE	ORPHA:494344
HP:0000481	Abnormal cornea morphology	55215	FANCI	OMIM:609053
HP:0000481	Abnormal cornea morphology	55215	FANCI	ORPHA:84
HP:0000481	Abnormal cornea morphology	6812	STXBP1	ORPHA:495818
HP:0000481	Abnormal cornea morphology	10686	CLDN16	OMIM:248250
HP:0000481	Abnormal cornea morphology	157922	CAMSAP1	OMIM:620316
HP:0000481	Abnormal cornea morphology	169522	KCNV2	OMIM:610356
HP:0000481	Abnormal cornea morphology	5010	CLDN11	OMIM:619328
HP:0000481	Abnormal cornea morphology	55777	MBD5	OMIM:156200
HP:0000481	Abnormal cornea morphology	56915	EXOSC5	OMIM:619576
HP:0000481	Abnormal cornea morphology	2590	GALNT2	OMIM:618885
HP:0000481	Abnormal cornea morphology	57492	ARID1B	OMIM:135900
HP:0000481	Abnormal cornea morphology	55870	ASH1L	OMIM:617796
HP:0000481	Abnormal cornea morphology	54496	PRMT7	OMIM:617157
HP:0000481	Abnormal cornea morphology	92255	LMBRD2	OMIM:619694
HP:0000481	Abnormal cornea morphology	7275	TUB	OMIM:616188
HP:0000481	Abnormal cornea morphology	29940	DSE	ORPHA:2953
HP:0000481	Abnormal cornea morphology	5119	CHMP1A	OMIM:614961
HP:0000481	Abnormal cornea morphology	816	CAMK2B	OMIM:617799
HP:0000481	Abnormal cornea morphology	1108	CHD4	OMIM:617159
HP:0000481	Abnormal cornea morphology	84100	ARL6	OMIM:209900
HP:0000481	Abnormal cornea morphology	84100	ARL6	ORPHA:110
HP:0000481	Abnormal cornea morphology	79140	CCDC28B	OMIM:209900
HP:0000481	Abnormal cornea morphology	582	BBS1	OMIM:209900
HP:0000481	Abnormal cornea morphology	582	BBS1	ORPHA:110
HP:0000481	Abnormal cornea morphology	708	C1QBP	OMIM:617713
HP:0000481	Abnormal cornea morphology	672	BRCA1	ORPHA:84
HP:0000481	Abnormal cornea morphology	10459	MAD2L2	ORPHA:84
HP:0000481	Abnormal cornea morphology	7516	XRCC2	ORPHA:84
HP:0000481	Abnormal cornea morphology	29089	UBE2T	ORPHA:84
HP:0000481	Abnormal cornea morphology	675	BRCA2	ORPHA:84
HP:0000481	Abnormal cornea morphology	55120	FANCL	ORPHA:84
HP:0000481	Abnormal cornea morphology	2177	FANCD2	ORPHA:84
HP:0000481	Abnormal cornea morphology	2175	FANCA	ORPHA:84
HP:0000481	Abnormal cornea morphology	2176	FANCC	ORPHA:84
HP:0000481	Abnormal cornea morphology	2178	FANCE	ORPHA:84
HP:0000481	Abnormal cornea morphology	2188	FANCF	ORPHA:84
HP:0000481	Abnormal cornea morphology	2189	FANCG	ORPHA:84
HP:0000481	Abnormal cornea morphology	5888	RAD51	ORPHA:84
HP:0000481	Abnormal cornea morphology	5889	RAD51C	ORPHA:84
HP:0000481	Abnormal cornea morphology	55159	RFWD3	ORPHA:84
HP:0000481	Abnormal cornea morphology	83990	BRIP1	ORPHA:84
HP:0000481	Abnormal cornea morphology	57697	FANCM	ORPHA:84
HP:0000481	Abnormal cornea morphology	79728	PALB2	ORPHA:84
HP:0000481	Abnormal cornea morphology	84464	SLX4	ORPHA:84
HP:0000481	Abnormal cornea morphology	9241	NOG	OMIM:186500
HP:0000481	Abnormal cornea morphology	222663	SCUBE3	OMIM:619184
HP:0000481	Abnormal cornea morphology	6045	RNF2	OMIM:619460
HP:0000481	Abnormal cornea morphology	372	ARCN1	OMIM:617164
HP:0000481	Abnormal cornea morphology	9757	KMT2B	OMIM:617284
HP:0000481	Abnormal cornea morphology	9757	KMT2B	OMIM:619934
HP:0000481	Abnormal cornea morphology	54681	P4HTM	OMIM:618493
HP:0000481	Abnormal cornea morphology	4761	NEUROD2	OMIM:618374
HP:0000481	Abnormal cornea morphology	26040	SETBP1	OMIM:616078
HP:0000481	Abnormal cornea morphology	57178	ZMIZ1	OMIM:618659
HP:0000481	Abnormal cornea morphology	23065	EMC1	OMIM:616875
HP:0000481	Abnormal cornea morphology	23065	EMC1	ORPHA:480898
HP:0000481	Abnormal cornea morphology	149461	CLDN19	OMIM:248190
HP:0000481	Abnormal cornea morphology	26834	RNU4-2	OMIM:620851
HP:0000481	Abnormal cornea morphology	165	AEBP1	ORPHA:536532
HP:0000481	Abnormal cornea morphology	2743	GLRB	OMIM:614619
HP:0000481	Abnormal cornea morphology	26160	IFT172	OMIM:619471
HP:0000481	Abnormal cornea morphology	26160	IFT172	ORPHA:110
HP:0000481	Abnormal cornea morphology	1798	DPAGT1	ORPHA:86309
HP:0000481	Abnormal cornea morphology	92482	BBIP1	ORPHA:110
HP:0000481	Abnormal cornea morphology	11020	IFT27	ORPHA:110
HP:0000481	Abnormal cornea morphology	49855	SCAPER	ORPHA:110
HP:0000481	Abnormal cornea morphology	4867	NPHP1	ORPHA:110
HP:0000481	Abnormal cornea morphology	51057	WDPCP	ORPHA:110
HP:0000481	Abnormal cornea morphology	132320	SCLT1	ORPHA:110
HP:0000481	Abnormal cornea morphology	27241	BBS9	ORPHA:110
HP:0000481	Abnormal cornea morphology	27241	BBS9	OMIM:615986
HP:0000481	Abnormal cornea morphology	84984	CEP19	ORPHA:110
HP:0000481	Abnormal cornea morphology	22954	TRIM32	ORPHA:110
HP:0000481	Abnormal cornea morphology	79738	BBS10	ORPHA:110
HP:0000481	Abnormal cornea morphology	123016	TTC8	ORPHA:110
HP:0000481	Abnormal cornea morphology	583	BBS2	ORPHA:110
HP:0000481	Abnormal cornea morphology	585	BBS4	ORPHA:110
HP:0000481	Abnormal cornea morphology	8195	MKKS	ORPHA:110
HP:0000481	Abnormal cornea morphology	54585	LZTFL1	ORPHA:110
HP:0000481	Abnormal cornea morphology	55212	BBS7	ORPHA:110
HP:0000481	Abnormal cornea morphology	166379	BBS12	ORPHA:110
HP:0000481	Abnormal cornea morphology	10806	SDCCAG8	ORPHA:110
HP:0000481	Abnormal cornea morphology	157657	CFAP418	ORPHA:110
HP:0000481	Abnormal cornea morphology	129880	BBS5	ORPHA:110
HP:0000481	Abnormal cornea morphology	80173	IFT74	ORPHA:110
HP:0000481	Abnormal cornea morphology	84265	POLR3GL	OMIM:619234
HP:0000481	Abnormal cornea morphology	57498	KIDINS220	OMIM:617296
HP:0000481	Abnormal cornea morphology	57003	CCDC47	OMIM:618268
HP:0000481	Abnormal cornea morphology	134218	DNAJC21	OMIM:617052
HP:0000481	Abnormal cornea morphology	51604	PIGT	ORPHA:369837
HP:0000481	Abnormal cornea morphology	4659	PPP1R12A	OMIM:618820
HP:0000481	Abnormal cornea morphology	8239	USP9X	ORPHA:480880
HP:0000481	Abnormal cornea morphology	8239	USP9X	OMIM:300968
HP:0000481	Abnormal cornea morphology	3098	HK1	OMIM:618547
HP:0000481	Abnormal cornea morphology	9091	PIGQ	OMIM:618548
HP:0000481	Abnormal cornea morphology	63895	PIEZO2	OMIM:108145
HP:0000481	Abnormal cornea morphology	283446	MYO1H	OMIM:619482
HP:0000481	Abnormal cornea morphology	57459	GATAD2B	ORPHA:363686
HP:0000481	Abnormal cornea morphology	8314	BAP1	OMIM:619762
HP:0000481	Abnormal cornea morphology	388552	BLOC1S3	OMIM:614077
HP:0000481	Abnormal cornea morphology	29123	ANKRD11	ORPHA:261250
HP:0000481	Abnormal cornea morphology	4784	NFIX	OMIM:614753
HP:0000481	Abnormal cornea morphology	2890	GRIA1	OMIM:619927
HP:0000481	Abnormal cornea morphology	23261	CAMTA1	OMIM:614756
HP:0000481	Abnormal cornea morphology	51341	ZBTB7A	OMIM:619769
HP:0000481	Abnormal cornea morphology	9338	TCEAL1	OMIM:301094
HP:0000481	Abnormal cornea morphology	7401	CLRN1	ORPHA:231183
HP:0000481	Abnormal cornea morphology	22901	ARSG	ORPHA:231183
HP:0000481	Abnormal cornea morphology	4575	MT-TS2	ORPHA:231183
HP:0000481	Abnormal cornea morphology	3035	HARS1	ORPHA:231183
HP:0000481	Abnormal cornea morphology	84131	CEP78	ORPHA:231183
HP:0000481	Abnormal cornea morphology	51322	WAC	ORPHA:284169
HP:0000481	Abnormal cornea morphology	51322	WAC	OMIM:616708
HP:0000481	Abnormal cornea morphology	80267	EDEM3	OMIM:619493
HP:0000481	Abnormal cornea morphology	81031	SLC2A10	OMIM:208050
HP:0000481	Abnormal cornea morphology	4935	GPR143	OMIM:300814
HP:0000481	Abnormal cornea morphology	4935	GPR143	ORPHA:54
HP:0000481	Abnormal cornea morphology	5528	PPP2R5D	ORPHA:457279
HP:0000481	Abnormal cornea morphology	387	RHOA	OMIM:618727
HP:0000481	Abnormal cornea morphology	7994	KAT6A	OMIM:616268
HP:0000481	Abnormal cornea morphology	1107	CHD3	OMIM:618205
HP:0000481	Abnormal cornea morphology	100151683	RNU4ATAC	ORPHA:1824
HP:0000481	Abnormal cornea morphology	8943	AP3D1	ORPHA:54
HP:0000481	Abnormal cornea morphology	23040	MYT1L	ORPHA:647799
HP:0000481	Abnormal cornea morphology	55181	SMG8	OMIM:619268
HP:0000481	Abnormal cornea morphology	26173	INTS1	OMIM:618571
HP:0000481	Abnormal cornea morphology	7543	ZFX	OMIM:301118
HP:0000481	Abnormal cornea morphology	9181	ARHGEF2	OMIM:617523
HP:0000481	Abnormal cornea morphology	1297	COL9A1	OMIM:614134
HP:0000481	Abnormal cornea morphology	1297	COL9A1	ORPHA:250984
HP:0000481	Abnormal cornea morphology	1298	COL9A2	ORPHA:250984
HP:0000481	Abnormal cornea morphology	5908	RAP1B	OMIM:620654
HP:0000481	Abnormal cornea morphology	55294	FBXW7	OMIM:620012
HP:0000481	Abnormal cornea morphology	78987	CRELD1	OMIM:620771
HP:0000481	Abnormal cornea morphology	9898	UBAP2L	OMIM:620494
HP:0000481	Abnormal cornea morphology	23102	TBC1D2B	ORPHA:397973
HP:0000481	Abnormal cornea morphology	64221	ROBO3	OMIM:607313
HP:0000481	Abnormal cornea morphology	3981	LIG4	ORPHA:235
HP:0000481	Abnormal cornea morphology	54888	NSUN2	ORPHA:235
HP:0000481	Abnormal cornea morphology	26277	TINF2	OMIM:268130
HP:0000481	Abnormal cornea morphology	26128	KIFBP	OMIM:609460
HP:0000481	Abnormal cornea morphology	84168	ANTXR1	OMIM:230740
HP:0000481	Abnormal cornea morphology	91851	CHRDL1	OMIM:309300
HP:0000481	Abnormal cornea morphology	2200	FBN1	ORPHA:284979
HP:0000481	Abnormal cornea morphology	3778	KCNMA1	OMIM:618729
HP:0000481	Abnormal cornea morphology	1009	CDH11	OMIM:211380
HP:0000481	Abnormal cornea morphology	29925	GMPPB	ORPHA:370959
HP:0000481	Abnormal cornea morphology	10815	CPLX1	ORPHA:280
HP:0000481	Abnormal cornea morphology	54872	PIGG	ORPHA:280
HP:0000481	Abnormal cornea morphology	7469	NELFA	ORPHA:280
HP:0000481	Abnormal cornea morphology	1487	CTBP1	ORPHA:280
HP:0000481	Abnormal cornea morphology	3954	LETM1	ORPHA:280
HP:0000481	Abnormal cornea morphology	7468	NSD2	ORPHA:280
HP:0000481	Abnormal cornea morphology	5515	PPP2CA	OMIM:618354
HP:0000481	Abnormal cornea morphology	285590	SH3PXD2B	OMIM:249420
HP:0000481	Abnormal cornea morphology	2245	FGD1	ORPHA:915
HP:0000481	Abnormal cornea morphology	7454	WAS	ORPHA:906
HP:0000481	Abnormal cornea morphology	7456	WIPF1	ORPHA:906
HP:0000481	Abnormal cornea morphology	1493	CTLA4	ORPHA:900
HP:0000481	Abnormal cornea morphology	3115	HLA-DPB1	ORPHA:900
HP:0000481	Abnormal cornea morphology	5657	PRTN3	ORPHA:900
HP:0000481	Abnormal cornea morphology	3113	HLA-DPA1	ORPHA:900
HP:0000481	Abnormal cornea morphology	22947	DUX4L1	ORPHA:269
HP:0000481	Abnormal cornea morphology	1789	DNMT3B	ORPHA:269
HP:0000481	Abnormal cornea morphology	2483	FRG1	ORPHA:269
HP:0000481	Abnormal cornea morphology	23347	SMCHD1	ORPHA:269
HP:0000481	Abnormal cornea morphology	100288687	DUX4	ORPHA:269
HP:0000481	Abnormal cornea morphology	5429	POLH	OMIM:278750
HP:0000481	Abnormal cornea morphology	5429	POLH	ORPHA:90342
HP:0000481	Abnormal cornea morphology	55343	SLC35C1	ORPHA:99843
HP:0000481	Abnormal cornea morphology	5339	PLEC	OMIM:226670
HP:0000481	Abnormal cornea morphology	8218	CLTCL1	ORPHA:453510
HP:0000481	Abnormal cornea morphology	3572	IL6ST	OMIM:618523
HP:0000481	Abnormal cornea morphology	64127	NOD2	ORPHA:90340
HP:0000481	Abnormal cornea morphology	8626	TP63	ORPHA:1896
HP:0000481	Abnormal cornea morphology	242	ALOX12B	ORPHA:79394
HP:0000481	Abnormal cornea morphology	204219	CERS3	ORPHA:79394
HP:0000481	Abnormal cornea morphology	6820	SULT2B1	ORPHA:79394
HP:0000481	Abnormal cornea morphology	26154	ABCA12	ORPHA:79394
HP:0000481	Abnormal cornea morphology	285848	PNPLA1	ORPHA:79394
HP:0000481	Abnormal cornea morphology	59344	ALOXE3	ORPHA:79394
HP:0000481	Abnormal cornea morphology	348938	NIPAL4	ORPHA:79394
HP:0000481	Abnormal cornea morphology	7051	TGM1	ORPHA:79394
HP:0000481	Abnormal cornea morphology	121214	SDR9C7	ORPHA:79394
HP:0000481	Abnormal cornea morphology	9244	CRLF1	OMIM:272430
HP:0000481	Abnormal cornea morphology	1288	COL4A6	ORPHA:1018
HP:0000481	Abnormal cornea morphology	1287	COL4A5	ORPHA:1018
HP:0000481	Abnormal cornea morphology	3850	KRT3	OMIM:618767
HP:0000481	Abnormal cornea morphology	5422	POLA1	OMIM:301220
HP:0000481	Abnormal cornea morphology	7390	UROS	OMIM:263700
HP:0000481	Abnormal cornea morphology	54892	NCAPG2	OMIM:618460
HP:0000481	Abnormal cornea morphology	85446	ZFHX2	OMIM:147430
HP:0000481	Abnormal cornea morphology	1387	CREBBP	ORPHA:353277
HP:0000481	Abnormal cornea morphology	59335	PRDM12	OMIM:616488
HP:0000481	Abnormal cornea morphology	4358	MPV17	OMIM:256810
HP:0000481	Abnormal cornea morphology	4990	SIX6	OMIM:212550
HP:0000481	Abnormal cornea morphology	2072	ERCC4	OMIM:610965
HP:0000481	Abnormal cornea morphology	4914	NTRK1	ORPHA:642
HP:0000481	Abnormal cornea morphology	4914	NTRK1	OMIM:256800
HP:0000481	Abnormal cornea morphology	1294	COL7A1	OMIM:226600
HP:0000481	Abnormal cornea morphology	667	DST	OMIM:614653
HP:0000481	Abnormal cornea morphology	2033	EP300	ORPHA:353284
HP:0000481	Abnormal cornea morphology	1281	COL3A1	OMIM:130050
HP:0000481	Abnormal cornea morphology	1281	COL3A1	ORPHA:286
HP:0000481	Abnormal cornea morphology	3769	KCNJ13	ORPHA:65
HP:0000481	Abnormal cornea morphology	343035	RD3	ORPHA:65
HP:0000481	Abnormal cornea morphology	145226	RDH12	ORPHA:65
HP:0000481	Abnormal cornea morphology	145226	RDH12	ORPHA:791
HP:0000481	Abnormal cornea morphology	1406	CRX	ORPHA:65
HP:0000481	Abnormal cornea morphology	1406	CRX	ORPHA:791
HP:0000481	Abnormal cornea morphology	1406	CRX	OMIM:613829
HP:0000481	Abnormal cornea morphology	64802	NMNAT1	ORPHA:65
HP:0000481	Abnormal cornea morphology	64802	NMNAT1	OMIM:608553
HP:0000481	Abnormal cornea morphology	10383	TUBB4B	ORPHA:65
HP:0000481	Abnormal cornea morphology	9742	IFT140	ORPHA:65
HP:0000481	Abnormal cornea morphology	9742	IFT140	ORPHA:791
HP:0000481	Abnormal cornea morphology	85015	USP45	ORPHA:65
HP:0000481	Abnormal cornea morphology	23418	CRB1	ORPHA:65
HP:0000481	Abnormal cornea morphology	23418	CRB1	ORPHA:791
HP:0000481	Abnormal cornea morphology	23418	CRB1	OMIM:613835
HP:0000481	Abnormal cornea morphology	9657	IQCB1	ORPHA:65
HP:0000481	Abnormal cornea morphology	392255	GDF6	ORPHA:65
HP:0000481	Abnormal cornea morphology	23746	AIPL1	ORPHA:65
HP:0000481	Abnormal cornea morphology	23746	AIPL1	OMIM:604393
HP:0000481	Abnormal cornea morphology	3000	GUCY2D	ORPHA:65
HP:0000481	Abnormal cornea morphology	3000	GUCY2D	OMIM:204000
HP:0000481	Abnormal cornea morphology	7287	TULP1	ORPHA:65
HP:0000481	Abnormal cornea morphology	7287	TULP1	ORPHA:791
HP:0000481	Abnormal cornea morphology	3614	IMPDH1	ORPHA:65
HP:0000481	Abnormal cornea morphology	3614	IMPDH1	ORPHA:791
HP:0000481	Abnormal cornea morphology	7025	NR2F1	ORPHA:401777
HP:0000481	Abnormal cornea morphology	92840	REEP6	ORPHA:791
HP:0000481	Abnormal cornea morphology	6094	ROM1	ORPHA:791
HP:0000481	Abnormal cornea morphology	6017	RLBP1	ORPHA:791
HP:0000481	Abnormal cornea morphology	24	ABCA4	ORPHA:791
HP:0000481	Abnormal cornea morphology	130557	ZNF513	ORPHA:791
HP:0000481	Abnormal cornea morphology	92211	CDHR1	ORPHA:791
HP:0000481	Abnormal cornea morphology	23568	ARL2BP	ORPHA:791
HP:0000481	Abnormal cornea morphology	54806	AHI1	ORPHA:791
HP:0000481	Abnormal cornea morphology	6101	RP1	ORPHA:791
HP:0000481	Abnormal cornea morphology	3419	IDH3A	ORPHA:791
HP:0000481	Abnormal cornea morphology	4751	NEK2	ORPHA:791
HP:0000481	Abnormal cornea morphology	346007	EYS	ORPHA:791
HP:0000481	Abnormal cornea morphology	8100	IFT88	ORPHA:791
HP:0000481	Abnormal cornea morphology	23020	SNRNP200	ORPHA:791
HP:0000481	Abnormal cornea morphology	762	CA4	ORPHA:791
HP:0000481	Abnormal cornea morphology	138050	HGSNAT	ORPHA:791
HP:0000481	Abnormal cornea morphology	196	AHR	ORPHA:791
HP:0000481	Abnormal cornea morphology	6103	RPGR	ORPHA:791
HP:0000481	Abnormal cornea morphology	5148	PDE6G	ORPHA:791
HP:0000481	Abnormal cornea morphology	26121	PRPF31	ORPHA:791
HP:0000481	Abnormal cornea morphology	4117	MAK	ORPHA:791
HP:0000481	Abnormal cornea morphology	25794	FSCN2	ORPHA:791
HP:0000481	Abnormal cornea morphology	375298	CERKL	ORPHA:791
HP:0000481	Abnormal cornea morphology	3420	IDH3B	ORPHA:791
HP:0000481	Abnormal cornea morphology	57670	KIAA1549	ORPHA:791
HP:0000481	Abnormal cornea morphology	24148	PRPF6	ORPHA:791
HP:0000481	Abnormal cornea morphology	10461	MERTK	ORPHA:791
HP:0000481	Abnormal cornea morphology	57709	SLC7A14	ORPHA:791
HP:0000481	Abnormal cornea morphology	768206	PRCD	ORPHA:791
HP:0000481	Abnormal cornea morphology	7399	USH2A	ORPHA:791
HP:0000481	Abnormal cornea morphology	23370	ARHGEF18	ORPHA:791
HP:0000481	Abnormal cornea morphology	5949	RBP3	ORPHA:791
HP:0000481	Abnormal cornea morphology	6010	RHO	ORPHA:791
HP:0000481	Abnormal cornea morphology	6100	RP9	ORPHA:791
HP:0000481	Abnormal cornea morphology	10002	NR2E3	ORPHA:791
HP:0000481	Abnormal cornea morphology	84140	FAM161A	ORPHA:791
HP:0000481	Abnormal cornea morphology	79797	ZNF408	ORPHA:791
HP:0000481	Abnormal cornea morphology	403	ARL3	ORPHA:791
HP:0000481	Abnormal cornea morphology	5145	PDE6A	ORPHA:791
HP:0000481	Abnormal cornea morphology	10210	TOPORS	ORPHA:791
HP:0000481	Abnormal cornea morphology	8842	PROM1	ORPHA:791
HP:0000481	Abnormal cornea morphology	9128	PRPF4	ORPHA:791
HP:0000481	Abnormal cornea morphology	50939	IMPG2	ORPHA:791
HP:0000481	Abnormal cornea morphology	8481	OFD1	ORPHA:791
HP:0000481	Abnormal cornea morphology	2979	GUCA1B	ORPHA:791
HP:0000481	Abnormal cornea morphology	1259	CNGA1	ORPHA:791
HP:0000481	Abnormal cornea morphology	1258	CNGB1	ORPHA:791
HP:0000481	Abnormal cornea morphology	60509	AGBL5	ORPHA:791
HP:0000481	Abnormal cornea morphology	5961	PRPH2	ORPHA:791
HP:0000481	Abnormal cornea morphology	388939	PCARE	ORPHA:791
HP:0000481	Abnormal cornea morphology	9785	DHX38	ORPHA:791
HP:0000481	Abnormal cornea morphology	5995	RGR	ORPHA:791
HP:0000481	Abnormal cornea morphology	9129	PRPF3	ORPHA:791
HP:0000481	Abnormal cornea morphology	55975	KLHL7	ORPHA:791
HP:0000481	Abnormal cornea morphology	3617	IMPG1	ORPHA:791
HP:0000481	Abnormal cornea morphology	94137	RP1L1	ORPHA:791
HP:0000481	Abnormal cornea morphology	5158	PDE6B	ORPHA:791
HP:0000481	Abnormal cornea morphology	6102	RP2	ORPHA:791
HP:0000481	Abnormal cornea morphology	55857	KIZ	ORPHA:791
HP:0000481	Abnormal cornea morphology	64218	SEMA4A	ORPHA:791
HP:0000481	Abnormal cornea morphology	4901	NRL	ORPHA:791
HP:0000481	Abnormal cornea morphology	10594	PRPF8	ORPHA:791
HP:0000481	Abnormal cornea morphology	6295	SAG	ORPHA:791
HP:0000481	Abnormal cornea morphology	79947	DHDDS	ORPHA:791
HP:0000481	Abnormal cornea morphology	2737	GLI3	OMIM:175700
HP:0000481	Abnormal cornea morphology	162	AP1B1	OMIM:242150
HP:0000481	Abnormal cornea morphology	3708	ITPR1	OMIM:117360
HP:0000481	Abnormal cornea morphology	10681	GNB5	ORPHA:542306
HP:0000481	Abnormal cornea morphology	80781	COL18A1	OMIM:267750
HP:0000481	Abnormal cornea morphology	8671	SLC4A4	OMIM:604278
HP:0000481	Abnormal cornea morphology	6775	STAT4	ORPHA:85410
HP:0000481	Abnormal cornea morphology	3560	IL2RB	ORPHA:85410
HP:0000481	Abnormal cornea morphology	79722	ANKRD55	ORPHA:85410
HP:0000481	Abnormal cornea morphology	919	CD247	ORPHA:85410
HP:0000481	Abnormal cornea morphology	3559	IL2RA	ORPHA:85410
HP:0000481	Abnormal cornea morphology	5771	PTPN2	ORPHA:85410
HP:0000481	Abnormal cornea morphology	2778	GNAS	ORPHA:79443
HP:0000481	Abnormal cornea morphology	9653	HS2ST1	OMIM:619194
HP:0000481	Abnormal cornea morphology	146167	SLC38A8	OMIM:609218
HP:0000481	Abnormal cornea morphology	54487	DGCR8	OMIM:192430
HP:0000481	Abnormal cornea morphology	8214	DGCR6	OMIM:192430
HP:0000481	Abnormal cornea morphology	8220	ESS2	OMIM:192430
HP:0000481	Abnormal cornea morphology	9993	DGCR2	OMIM:192430
HP:0000481	Abnormal cornea morphology	5927	KDM5A	OMIM:620820
HP:0000481	Abnormal cornea morphology	4853	NOTCH2	OMIM:610205
HP:0000481	Abnormal cornea morphology	6657	SOX2	ORPHA:77298
HP:0000481	Abnormal cornea morphology	6657	SOX2	OMIM:206900
HP:0000481	Abnormal cornea morphology	29957	SLC25A24	ORPHA:2095
HP:0000481	Abnormal cornea morphology	30062	RAX	OMIM:611038
HP:0000481	Abnormal cornea morphology	9896	FIG4	OMIM:216340
HP:0000481	Abnormal cornea morphology	9896	FIG4	ORPHA:3472
HP:0000481	Abnormal cornea morphology	55697	VAC14	ORPHA:3472
HP:0000481	Abnormal cornea morphology	91179	SCARF2	OMIM:600920
HP:0000481	Abnormal cornea morphology	8550	MAPKAPK5	OMIM:619869
HP:0000481	Abnormal cornea morphology	1717	DHCR7	ORPHA:818
HP:0000481	Abnormal cornea morphology	55315	SLC29A3	OMIM:602782
HP:0000481	Abnormal cornea morphology	55315	SLC29A3	ORPHA:168569
HP:0000481	Abnormal cornea morphology	255738	PCSK9	OMIM:603776
HP:0000481	Abnormal cornea morphology	338	APOB	OMIM:144010
HP:0000481	Abnormal cornea morphology	336	APOA2	OMIM:143890
HP:0000481	Abnormal cornea morphology	2053	EPHX2	OMIM:143890
HP:0000481	Abnormal cornea morphology	10842	PPP1R17	OMIM:143890
HP:0000481	Abnormal cornea morphology	3949	LDLR	OMIM:143890
HP:0000481	Abnormal cornea morphology	2690	GHR	OMIM:143890
HP:0000481	Abnormal cornea morphology	3990	LIPC	OMIM:614025
HP:0000481	Abnormal cornea morphology	348	APOE	ORPHA:412
HP:0000481	Abnormal cornea morphology	64241	ABCG8	OMIM:210250
HP:0000481	Abnormal cornea morphology	3141	HLCS	ORPHA:79242
HP:0000481	Abnormal cornea morphology	6335	SCN9A	OMIM:133020
HP:0000481	Abnormal cornea morphology	55699	IARS2	OMIM:616007
HP:0000481	Abnormal cornea morphology	3930	LBR	ORPHA:779
HP:0000481	Abnormal cornea morphology	54941	RNF125	OMIM:616260
HP:0000481	Abnormal cornea morphology	5965	RECQL	OMIM:620370
HP:0000481	Abnormal cornea morphology	4069	LYZ	OMIM:620658
HP:0000481	Abnormal cornea morphology	56244	BTNL2	ORPHA:797
HP:0000481	Abnormal cornea morphology	3123	HLA-DRB1	ORPHA:797
HP:0000481	Abnormal cornea morphology	149233	IL23R	ORPHA:117
HP:0000481	Abnormal cornea morphology	3586	IL10	ORPHA:117
HP:0000481	Abnormal cornea morphology	4210	MEFV	ORPHA:117
HP:0000481	Abnormal cornea morphology	1230	CCR1	ORPHA:117
HP:0000481	Abnormal cornea morphology	3592	IL12A	ORPHA:117
HP:0000481	Abnormal cornea morphology	101928376	IL12A-AS1	ORPHA:117
HP:0000481	Abnormal cornea morphology	7099	TLR4	ORPHA:117
HP:0000481	Abnormal cornea morphology	3459	IFNGR1	ORPHA:117
HP:0000481	Abnormal cornea morphology	720	C4A	ORPHA:117
HP:0000481	Abnormal cornea morphology	337867	UBAC2	ORPHA:117
HP:0000481	Abnormal cornea morphology	51752	ERAP1	ORPHA:117
HP:0000481	Abnormal cornea morphology	8302	KLRC4	ORPHA:117
HP:0000481	Abnormal cornea morphology	83959	SLC4A11	OMIM:217400
HP:0000481	Abnormal cornea morphology	83959	SLC4A11	OMIM:217700
HP:0000481	Abnormal cornea morphology	83959	SLC4A11	ORPHA:1490
HP:0000481	Abnormal cornea morphology	83959	SLC4A11	OMIM:613268
HP:0000481	Abnormal cornea morphology	4166	CHST6	OMIM:217800
HP:0000481	Abnormal cornea morphology	4081	MAB21L1	ORPHA:495875
HP:0000481	Abnormal cornea morphology	6935	ZEB1	OMIM:613270
HP:0000481	Abnormal cornea morphology	6935	ZEB1	OMIM:609141
HP:0000481	Abnormal cornea morphology	2717	GLA	OMIM:301500
HP:0000481	Abnormal cornea morphology	2717	GLA	ORPHA:324
HP:0000481	Abnormal cornea morphology	4070	TACSTD2	OMIM:204870
HP:0000481	Abnormal cornea morphology	1296	COL8A2	OMIM:609140
HP:0000481	Abnormal cornea morphology	1296	COL8A2	OMIM:136800
HP:0000481	Abnormal cornea morphology	1634	DCN	OMIM:610048
HP:0000481	Abnormal cornea morphology	29914	UBIAD1	OMIM:121800
HP:0000481	Abnormal cornea morphology	1308	COL17A1	ORPHA:293381
HP:0000481	Abnormal cornea morphology	291	SLC25A4	ORPHA:1369
HP:0000481	Abnormal cornea morphology	26007	TKFC	ORPHA:1369
HP:0000481	Abnormal cornea morphology	55750	AGK	ORPHA:1369
HP:0000481	Abnormal cornea morphology	2776	GNAQ	ORPHA:3205
HP:0000481	Abnormal cornea morphology	51360	MBTPS2	OMIM:308800
HP:0000481	Abnormal cornea morphology	2652	OPN1MW	ORPHA:16
HP:0000481	Abnormal cornea morphology	5956	OPN1LW	ORPHA:16
HP:0000481	Abnormal cornea morphology	23404	EXOSC2	OMIM:617763
HP:0000481	Abnormal cornea morphology	3859	KRT12	OMIM:122100
HP:0000481	Abnormal cornea morphology	123624	AGBL1	OMIM:615523
HP:0000481	Abnormal cornea morphology	4591	TRIM37	OMIM:253250
HP:0000481	Abnormal cornea morphology	2703	GJA8	ORPHA:1377
HP:0000481	Abnormal cornea morphology	4094	MAF	ORPHA:1377
HP:0000481	Abnormal cornea morphology	1413	CRYBA4	ORPHA:1377
HP:0000481	Abnormal cornea morphology	1409	CRYAA	ORPHA:1377
HP:0000481	Abnormal cornea morphology	1415	CRYBB2	ORPHA:1377
HP:0000481	Abnormal cornea morphology	1414	CRYBB1	ORPHA:1377
HP:0000481	Abnormal cornea morphology	1420	CRYGC	ORPHA:1377
HP:0000481	Abnormal cornea morphology	1421	CRYGD	ORPHA:1377
HP:0000481	Abnormal cornea morphology	11107	PRDM5	ORPHA:90354
HP:0000481	Abnormal cornea morphology	2260	FGFR1	OMIM:613001
HP:0000481	Abnormal cornea morphology	3845	KRAS	ORPHA:3339
HP:0000481	Abnormal cornea morphology	3845	KRAS	OMIM:600268
HP:0000481	Abnormal cornea morphology	207	AKT1	OMIM:176920
HP:0000481	Abnormal cornea morphology	5332	PLCB4	OMIM:620458
HP:0000481	Abnormal cornea morphology	5728	PTEN	ORPHA:2969
HP:0000481	Abnormal cornea morphology	6299	SALL1	ORPHA:857
HP:0000481	Abnormal cornea morphology	51339	DACT1	ORPHA:857
HP:0000481	Abnormal cornea morphology	10992	SF3B2	OMIM:164210
HP:0000481	Abnormal cornea morphology	2934	GSN	ORPHA:85448
HP:0000481	Abnormal cornea morphology	2934	GSN	OMIM:105120
HP:0000481	Abnormal cornea morphology	4140	MARK3	OMIM:618283
HP:0000481	Abnormal cornea morphology	7042	TGFB2	OMIM:614816
HP:0000481	Abnormal cornea morphology	224	ALDH3A2	OMIM:270200
HP:0000481	Abnormal cornea morphology	59341	TRPV4	OMIM:184095
HP:0000481	Abnormal cornea morphology	2588	GALNS	OMIM:253000
HP:0000481	Abnormal cornea morphology	114548	NLRP3	OMIM:148200
HP:0000481	Abnormal cornea morphology	84942	WDR73	OMIM:251300
HP:0000481	Abnormal cornea morphology	335	APOA1	ORPHA:425
HP:0000481	Abnormal cornea morphology	2312	FLG	ORPHA:461
HP:0000481	Abnormal cornea morphology	100506658	OCLN	OMIM:251290
HP:0000481	Abnormal cornea morphology	326	AIRE	ORPHA:3453
HP:0000481	Abnormal cornea morphology	84572	GNPTG	OMIM:252605
HP:0000481	Abnormal cornea morphology	4668	NAGA	ORPHA:79280
HP:0000481	Abnormal cornea morphology	3977	LIFR	OMIM:601559
HP:0000481	Abnormal cornea morphology	338917	VSX2	OMIM:610093
HP:0000481	Abnormal cornea morphology	6399	TRAPPC2	OMIM:313400
HP:0000481	Abnormal cornea morphology	7507	XPA	ORPHA:910
HP:0000481	Abnormal cornea morphology	7508	XPC	ORPHA:910
HP:0000481	Abnormal cornea morphology	1643	DDB2	ORPHA:910
HP:0000481	Abnormal cornea morphology	2073	ERCC5	ORPHA:910
HP:0000481	Abnormal cornea morphology	5696	PSMB8	OMIM:256040
HP:0000481	Abnormal cornea morphology	285440	CYP4V2	OMIM:210370
HP:0000481	Abnormal cornea morphology	1763	DNA2	OMIM:620819
HP:0000481	Abnormal cornea morphology	8518	ELP1	ORPHA:1764
HP:0000481	Abnormal cornea morphology	23556	PIGN	ORPHA:2059
HP:0000481	Abnormal cornea morphology	5832	ALDH18A1	OMIM:616603
HP:0000481	Abnormal cornea morphology	5832	ALDH18A1	ORPHA:90348
HP:0000481	Abnormal cornea morphology	145173	B3GLCT	ORPHA:709
HP:0000481	Abnormal cornea morphology	4693	NDP	OMIM:310600
HP:0000481	Abnormal cornea morphology	4693	NDP	ORPHA:91495
HP:0000481	Abnormal cornea morphology	4693	NDP	ORPHA:649
HP:0000481	Abnormal cornea morphology	220202	ATOH7	ORPHA:91495
HP:0000481	Abnormal cornea morphology	220202	ATOH7	OMIM:221900
HP:0000481	Abnormal cornea morphology	8322	FZD4	ORPHA:91495
HP:0000481	Abnormal cornea morphology	80144	FRAS1	OMIM:219000
HP:0000481	Abnormal cornea morphology	126792	B3GALT6	OMIM:609465
HP:0000481	Abnormal cornea morphology	4758	NEU1	ORPHA:93399
HP:0000481	Abnormal cornea morphology	4758	NEU1	ORPHA:812
HP:0000481	Abnormal cornea morphology	4758	NEU1	ORPHA:93400
HP:0000481	Abnormal cornea morphology	411	ARSB	OMIM:253200
HP:0000481	Abnormal cornea morphology	55593	OTUD5	OMIM:301056
HP:0000481	Abnormal cornea morphology	4125	MAN2B1	ORPHA:309282
HP:0000481	Abnormal cornea morphology	4125	MAN2B1	ORPHA:309288
HP:0000481	Abnormal cornea morphology	54101	RIPK4	ORPHA:1234
HP:0000481	Abnormal cornea morphology	6905	TBCE	ORPHA:2323
HP:0000481	Abnormal cornea morphology	10413	YAP1	ORPHA:1473
HP:0000481	Abnormal cornea morphology	4952	OCRL	ORPHA:534
HP:0000481	Abnormal cornea morphology	29954	POMT2	OMIM:236670
HP:0000481	Abnormal cornea morphology	29954	POMT2	ORPHA:899
HP:0000481	Abnormal cornea morphology	79147	FKRP	OMIM:236670
HP:0000481	Abnormal cornea morphology	79147	FKRP	ORPHA:899
HP:0000481	Abnormal cornea morphology	79147	FKRP	OMIM:613153
HP:0000481	Abnormal cornea morphology	2218	FKTN	OMIM:236670
HP:0000481	Abnormal cornea morphology	2218	FKTN	ORPHA:899
HP:0000481	Abnormal cornea morphology	10585	POMT1	OMIM:236670
HP:0000481	Abnormal cornea morphology	10585	POMT1	ORPHA:899
HP:0000481	Abnormal cornea morphology	9215	LARGE1	OMIM:236670
HP:0000481	Abnormal cornea morphology	9215	LARGE1	ORPHA:899
HP:0000481	Abnormal cornea morphology	84892	POMGNT2	ORPHA:899
HP:0000481	Abnormal cornea morphology	148789	B3GALNT2	ORPHA:899
HP:0000481	Abnormal cornea morphology	1282	COL4A1	ORPHA:899
HP:0000481	Abnormal cornea morphology	1282	COL4A1	OMIM:175780
HP:0000481	Abnormal cornea morphology	729920	CRPPA	ORPHA:899
HP:0000481	Abnormal cornea morphology	10329	RXYLT1	ORPHA:899
HP:0000481	Abnormal cornea morphology	1605	DAG1	ORPHA:899
HP:0000481	Abnormal cornea morphology	11041	B4GAT1	ORPHA:899
HP:0000481	Abnormal cornea morphology	84197	POMK	ORPHA:899
HP:0000481	Abnormal cornea morphology	55624	POMGNT1	ORPHA:899
HP:0000481	Abnormal cornea morphology	427	ASAH1	ORPHA:333
HP:0000481	Abnormal cornea morphology	5980	REV3L	ORPHA:570
HP:0000481	Abnormal cornea morphology	23129	PLXND1	ORPHA:570
HP:0000481	Abnormal cornea morphology	10584	COLEC10	OMIM:248340
HP:0000481	Abnormal cornea morphology	1545	CYP1B1	OMIM:617315
HP:0000481	Abnormal cornea morphology	1545	CYP1B1	ORPHA:98976
HP:0000481	Abnormal cornea morphology	3423	IDS	ORPHA:217085
HP:0000481	Abnormal cornea morphology	3423	IDS	ORPHA:217093
HP:0000481	Abnormal cornea morphology	5155	PDGFB	ORPHA:1980
HP:0000481	Abnormal cornea morphology	9213	XPR1	ORPHA:1980
HP:0000481	Abnormal cornea morphology	5159	PDGFRB	ORPHA:1980
HP:0000481	Abnormal cornea morphology	5159	PDGFRB	OMIM:601812
HP:0000481	Abnormal cornea morphology	57462	MYORG	ORPHA:1980
HP:0000481	Abnormal cornea morphology	6575	SLC20A2	ORPHA:1980
HP:0000481	Abnormal cornea morphology	58494	JAM2	ORPHA:1980
HP:0000481	Abnormal cornea morphology	412	STS	ORPHA:281090
HP:0000481	Abnormal cornea morphology	27151	CPAMD8	OMIM:617319
HP:0000481	Abnormal cornea morphology	93627	TBCK	OMIM:616900
HP:0000481	Abnormal cornea morphology	93627	TBCK	ORPHA:488632
HP:0000481	Abnormal cornea morphology	1147	CHUK	OMIM:619339
HP:0000481	Abnormal cornea morphology	4323	MMP14	OMIM:277950
HP:0000481	Abnormal cornea morphology	54539	NDUFB11	ORPHA:2556
HP:0000481	Abnormal cornea morphology	1349	COX7B	ORPHA:2556
HP:0000481	Abnormal cornea morphology	3052	HCCS	ORPHA:2556
HP:0000481	Abnormal cornea morphology	6768	ST14	OMIM:602400
HP:0000481	Abnormal cornea morphology	6898	TAT	ORPHA:28378
HP:0000481	Abnormal cornea morphology	9184	BUB3	ORPHA:1052
HP:0000481	Abnormal cornea morphology	699	BUB1	ORPHA:1052
HP:0000481	Abnormal cornea morphology	9702	CEP57	ORPHA:1052
HP:0000481	Abnormal cornea morphology	9319	TRIP13	ORPHA:1052
HP:0000481	Abnormal cornea morphology	701	BUB1B	ORPHA:1052
HP:0000481	Abnormal cornea morphology	4053	LTBP2	OMIM:613086
HP:0000481	Abnormal cornea morphology	4053	LTBP2	ORPHA:98976
HP:0000481	Abnormal cornea morphology	2720	GLB1	OMIM:253010
HP:0000481	Abnormal cornea morphology	4041	LRP5	ORPHA:2788
HP:0000481	Abnormal cornea morphology	1301	COL11A1	ORPHA:90654
HP:0000481	Abnormal cornea morphology	2301	FOXE3	OMIM:610256
HP:0000481	Abnormal cornea morphology	3425	IDUA	OMIM:607014
HP:0000481	Abnormal cornea morphology	3425	IDUA	OMIM:607016
HP:0000481	Abnormal cornea morphology	3425	IDUA	OMIM:607015
HP:0000481	Abnormal cornea morphology	3425	IDUA	ORPHA:93474
HP:0000481	Abnormal cornea morphology	3425	IDUA	ORPHA:93473
HP:0000481	Abnormal cornea morphology	3425	IDUA	ORPHA:93476
HP:0000481	Abnormal cornea morphology	2697	GJA1	ORPHA:317
HP:0000481	Abnormal cornea morphology	2707	GJB3	ORPHA:317
HP:0000481	Abnormal cornea morphology	2531	KDSR	ORPHA:317
HP:0000481	Abnormal cornea morphology	127534	GJB4	ORPHA:317
HP:0000481	Abnormal cornea morphology	9487	PIGL	ORPHA:3474
HP:0000481	Abnormal cornea morphology	11081	KERA	OMIM:217300
HP:0000481	Abnormal cornea morphology	5476	CTSA	ORPHA:351
HP:0000481	Abnormal cornea morphology	55768	NGLY1	OMIM:615273
HP:0000481	Abnormal cornea morphology	2629	GBA1	ORPHA:85212
HP:0000481	Abnormal cornea morphology	2629	GBA1	ORPHA:2072
HP:0000481	Abnormal cornea morphology	64840	PORCN	ORPHA:2092
HP:0000481	Abnormal cornea morphology	5080	PAX6	ORPHA:250923
HP:0000481	Abnormal cornea morphology	5080	PAX6	OMIM:120200
HP:0000481	Abnormal cornea morphology	2296	FOXC1	ORPHA:250923
HP:0000481	Abnormal cornea morphology	54765	TRIM44	ORPHA:250923
HP:0000481	Abnormal cornea morphology	4519	MT-CYB	ORPHA:137675
HP:0000481	Abnormal cornea morphology	4762	NEUROG1	OMIM:620469
HP:0000481	Abnormal cornea morphology	6804	STX1A	ORPHA:904
HP:0000481	Abnormal cornea morphology	7461	CLIP2	ORPHA:904
HP:0000481	Abnormal cornea morphology	84277	DNAJC30	ORPHA:904
HP:0000481	Abnormal cornea morphology	8468	FKBP6	ORPHA:904
HP:0000481	Abnormal cornea morphology	5982	RFC2	ORPHA:904
HP:0000481	Abnormal cornea morphology	2969	GTF2I	ORPHA:904
HP:0000481	Abnormal cornea morphology	3984	LIMK1	ORPHA:904
HP:0000481	Abnormal cornea morphology	9569	GTF2IRD1	ORPHA:904
HP:0000481	Abnormal cornea morphology	155382	VPS37D	ORPHA:904
HP:0000481	Abnormal cornea morphology	155368	METTL27	ORPHA:904
HP:0000481	Abnormal cornea morphology	114049	BUD23	ORPHA:904
HP:0000481	Abnormal cornea morphology	7458	EIF4H	ORPHA:904
HP:0000481	Abnormal cornea morphology	84163	GTF2IRD2	ORPHA:904
HP:0000481	Abnormal cornea morphology	26608	TBL2	ORPHA:904
HP:0000481	Abnormal cornea morphology	653361	NCF1	ORPHA:904
HP:0000481	Abnormal cornea morphology	135886	TMEM270	ORPHA:904
HP:0000481	Abnormal cornea morphology	9031	BAZ1B	ORPHA:904
HP:0000481	Abnormal cornea morphology	2006	ELN	ORPHA:904
HP:0000481	Abnormal cornea morphology	2006	ELN	ORPHA:90348
HP:0000481	Abnormal cornea morphology	4893	NRAS	OMIM:163200
HP:0000481	Abnormal cornea morphology	3265	HRAS	OMIM:163200
HP:0000481	Abnormal cornea morphology	1859	DYRK1A	ORPHA:464311
HP:0000481	Abnormal cornea morphology	2517	FUCA1	ORPHA:349
HP:0000481	Abnormal cornea morphology	285362	SUMF1	OMIM:272200
HP:0000481	Abnormal cornea morphology	285362	SUMF1	ORPHA:585
HP:0000481	Abnormal cornea morphology	8517	IKBKG	ORPHA:464
HP:0000481	Abnormal cornea morphology	2990	GUSB	ORPHA:584
HP:0000481	Abnormal cornea morphology	2990	GUSB	OMIM:253220
HP:0000481	Abnormal cornea morphology	4000	LMNA	ORPHA:740
HP:0000481	Abnormal cornea morphology	10269	ZMPSTE24	ORPHA:740
HP:0000481	Abnormal cornea morphology	55210	ATAD3A	ORPHA:496790
HP:0000481	Abnormal cornea morphology	55210	ATAD3A	OMIM:617183
HP:0000481	Abnormal cornea morphology	162514	TRPV3	OMIM:614594
HP:0000481	Abnormal cornea morphology	5130	PCYT1A	ORPHA:85167
HP:0000481	Abnormal cornea morphology	5130	PCYT1A	OMIM:608940
HP:0000481	Abnormal cornea morphology	50485	SMARCAL1	ORPHA:1830
HP:0000481	Abnormal cornea morphology	6925	TCF4	OMIM:613267
HP:0000481	Abnormal cornea morphology	6925	TCF4	ORPHA:98974
HP:0000481	Abnormal cornea morphology	3931	LCAT	ORPHA:79292
HP:0000481	Abnormal cornea morphology	57192	MCOLN1	ORPHA:578
HP:0000481	Abnormal cornea morphology	57192	MCOLN1	OMIM:252650
HP:0000481	Abnormal cornea morphology	11128	POLR3A	ORPHA:3455
HP:0000481	Abnormal cornea morphology	19	ABCA1	ORPHA:31150
HP:0000481	Abnormal cornea morphology	7837	PXDN	OMIM:269400
HP:0000481	Abnormal cornea morphology	5295	PIK3R1	ORPHA:3163
HP:0000481	Abnormal cornea morphology	5331	PLCB3	OMIM:618961
HP:0000481	Abnormal cornea morphology	55612	FERMT1	ORPHA:2908
HP:0000481	Abnormal cornea morphology	10848	PPP1R13L	OMIM:620519
HP:0000481	Abnormal cornea morphology	10516	FBLN5	ORPHA:90348
HP:0000481	Abnormal cornea morphology	9939	RBM8A	OMIM:274000
HP:0000481	Abnormal cornea morphology	79158	GNPTAB	ORPHA:423461
HP:0000481	Abnormal cornea morphology	4313	MMP2	OMIM:259600
HP:0000481	Abnormal cornea morphology	117581	TWIST2	ORPHA:920
HP:0000481	Abnormal cornea morphology	157570	ESCO2	OMIM:268300
HP:0000481	Abnormal cornea morphology	2317	FLNB	OMIM:150250
HP:0000481	Abnormal cornea morphology	3832	KIF11	OMIM:152950
HP:0000481	Abnormal cornea morphology	58495	OVOL2	OMIM:122000
HP:0000481	Abnormal cornea morphology	58495	OVOL2	ORPHA:98973
HP:0000481	Abnormal cornea morphology	9935	MAFB	OMIM:166300
HP:0000481	Abnormal cornea morphology	55670	PEX26	ORPHA:912
HP:0000481	Abnormal cornea morphology	5824	PEX19	ORPHA:912
HP:0000481	Abnormal cornea morphology	5828	PEX2	ORPHA:912
HP:0000481	Abnormal cornea morphology	8504	PEX3	ORPHA:912
HP:0000481	Abnormal cornea morphology	8799	PEX11B	ORPHA:912
HP:0000481	Abnormal cornea morphology	9409	PEX16	ORPHA:912
HP:0000481	Abnormal cornea morphology	5190	PEX6	ORPHA:912
HP:0000481	Abnormal cornea morphology	5830	PEX5	ORPHA:912
HP:0000481	Abnormal cornea morphology	5189	PEX1	ORPHA:912
HP:0000481	Abnormal cornea morphology	5193	PEX12	ORPHA:912
HP:0000481	Abnormal cornea morphology	5194	PEX13	ORPHA:912
HP:0000481	Abnormal cornea morphology	5195	PEX14	ORPHA:912
HP:0000481	Abnormal cornea morphology	5192	PEX10	ORPHA:912
HP:0000481	Abnormal cornea morphology	4653	MYOC	ORPHA:98976
HP:0000481	Abnormal cornea morphology	7010	TEK	ORPHA:98976
HP:0000481	Abnormal cornea morphology	3852	KRT5	ORPHA:79396
HP:0000481	Abnormal cornea morphology	3861	KRT14	ORPHA:79396
HP:0000481	Abnormal cornea morphology	30813	VSX1	ORPHA:98973
HP:0000481	Abnormal cornea morphology	79977	GRHL2	ORPHA:98973
HP:0000481	Abnormal cornea morphology	54808	DYM	ORPHA:239
HP:0000481	Abnormal cornea morphology	200576	PIKFYVE	OMIM:121850
HP:0000481	Abnormal cornea morphology	6655	SOS2	OMIM:616559
HP:0000481	Abnormal cornea morphology	8216	LZTR1	OMIM:616564
HP:0000481	Abnormal cornea morphology	9227	LRAT	ORPHA:364055
HP:0000481	Abnormal cornea morphology	55812	SPATA7	ORPHA:364055
HP:0000481	Abnormal cornea morphology	6121	RPE65	ORPHA:364055
HP:0000481	Abnormal cornea morphology	167691	LCA5	ORPHA:364055
HP:0000481	Abnormal cornea morphology	6720	SREBF1	OMIM:158310
HP:0000481	Abnormal cornea morphology	10804	GJB6	ORPHA:477
HP:0000481	Abnormal cornea morphology	2706	GJB2	ORPHA:477
HP:0000481	Abnormal cornea morphology	4921	DDR2	OMIM:618175
HP:0000481	Abnormal cornea morphology	22861	NLRP1	OMIM:617388
HP:0000481	Abnormal cornea morphology	22861	NLRP1	OMIM:615225
HP:0000481	Abnormal cornea morphology	2263	FGFR2	ORPHA:2363
HP:0000481	Abnormal cornea morphology	2261	FGFR3	ORPHA:2363
HP:0000481	Abnormal cornea morphology	2255	FGF10	ORPHA:2363
HP:0000481	Abnormal cornea morphology	1312	COMT	ORPHA:567
HP:0000481	Abnormal cornea morphology	221037	JMJD1C	ORPHA:567
HP:0000481	Abnormal cornea morphology	2812	GP1BB	ORPHA:567
HP:0000481	Abnormal cornea morphology	6239	RREB1	ORPHA:567
HP:0000481	Abnormal cornea morphology	6899	TBX1	ORPHA:567
HP:0000481	Abnormal cornea morphology	7290	HIRA	ORPHA:567
HP:0000481	Abnormal cornea morphology	9632	SEC24C	ORPHA:567
HP:0000481	Abnormal cornea morphology	7353	UFD1	ORPHA:567
HP:0000481	Abnormal cornea morphology	421	ARVCF	ORPHA:567
HP:0000481	Abnormal cornea morphology	7490	WT1	OMIM:106210
HP:0000481	Abnormal cornea morphology	2068	ERCC2	OMIM:278730
HP:0000481	Abnormal cornea morphology	488	ATP2A2	ORPHA:218
HP:0000481	Abnormal cornea morphology	29926	GMPPA	ORPHA:869
HP:0000481	Abnormal cornea morphology	60684	TRAPPC11	ORPHA:869
HP:0000481	Abnormal cornea morphology	8086	AAAS	ORPHA:869
HP:0000481	Abnormal cornea morphology	7389	UROD	ORPHA:95159
HP:0000481	Abnormal cornea morphology	4547	MTTP	ORPHA:14
HP:0000481	Abnormal cornea morphology	2303	FOXC2	OMIM:153400
HP:0000481	Abnormal cornea morphology	2623	GATA1	ORPHA:79277
HP:0000481	Abnormal cornea morphology	355	FAS	ORPHA:3437
HP:0000481	Abnormal cornea morphology	26191	PTPN22	ORPHA:3437
HP:0000481	Abnormal cornea morphology	710	SERPING1	ORPHA:100050
HP:0000481	Abnormal cornea morphology	3081	HGD	ORPHA:56
HP:0000481	Abnormal cornea morphology	10935	PRDX3	OMIM:619871
HP:0000481	Abnormal cornea morphology	113457	TUBA3D	OMIM:617928
HP:0000481	Abnormal cornea morphology	4072	EPCAM	ORPHA:92050
HP:0000481	Abnormal cornea morphology	105371045	PERCC1	ORPHA:92050
HP:0000481	Abnormal cornea morphology	3106	HLA-B	ORPHA:36426
HP:0000481	Abnormal cornea morphology	10320	IKZF1	ORPHA:36426
HP:0000481	Abnormal cornea morphology	1286	COL4A4	OMIM:203780
HP:0000481	Abnormal cornea morphology	10653	SPINT2	OMIM:270420
HP:0000481	Abnormal cornea morphology	55630	SLC39A4	ORPHA:37
HP:0000481	Abnormal cornea morphology	4312	MMP1	ORPHA:79408
HP:0000481	Abnormal cornea morphology	5336	PLCG2	OMIM:614878
HP:0000481	Abnormal cornea morphology	540	ATP7B	ORPHA:905
HP:0000481	Abnormal cornea morphology	540	ATP7B	OMIM:277900
HP:0000481	Abnormal cornea morphology	7407	VARS1	OMIM:617802
HP:0000481	Abnormal cornea morphology	1261	CNGA3	OMIM:216900
HP:0000481	Abnormal cornea morphology	7030	TFE3	OMIM:301066
HP:0000481	Abnormal cornea morphology	23162	MAPK8IP3	OMIM:618443
HP:0000481	Abnormal cornea morphology	1278	COL1A2	ORPHA:230851
HP:0000481	Abnormal cornea morphology	10093	ARPC4	OMIM:620141
HP:0000481	Abnormal cornea morphology	158326	FREM1	OMIM:248450
HP:0007772	Impaired smooth pursuit	5981	RFC1	OMIM:614575
HP:0007772	Impaired smooth pursuit	4287	ATXN3	OMIM:109150
HP:0007772	Impaired smooth pursuit	1938	EEF2	OMIM:609306
HP:0007772	Impaired smooth pursuit	1938	EEF2	ORPHA:101112
HP:0007772	Impaired smooth pursuit	55703	POLR3B	OMIM:614381
HP:0007772	Impaired smooth pursuit	6310	ATXN1	OMIM:164400
HP:0007772	Impaired smooth pursuit	6311	ATXN2	OMIM:183090
HP:0007772	Impaired smooth pursuit	6812	STXBP1	OMIM:612164
HP:0007772	Impaired smooth pursuit	6904	TBCD	ORPHA:496641
HP:0007772	Impaired smooth pursuit	6904	TBCD	OMIM:617193
HP:0007772	Impaired smooth pursuit	8818	DPM2	ORPHA:329178
HP:0007772	Impaired smooth pursuit	5917	RARS1	OMIM:616140
HP:0007772	Impaired smooth pursuit	5917	RARS1	ORPHA:438114
HP:0007772	Impaired smooth pursuit	3708	ITPR1	OMIM:606658
HP:0007772	Impaired smooth pursuit	3752	KCND3	ORPHA:98772
HP:0007772	Impaired smooth pursuit	773	CACNA1A	OMIM:183086
HP:0007772	Impaired smooth pursuit	5621	PRNP	OMIM:137440
HP:0007772	Impaired smooth pursuit	7518	XRCC4	OMIM:616541
HP:0007772	Impaired smooth pursuit	4125	MAN2B1	OMIM:248500
HP:0007772	Impaired smooth pursuit	23345	SYNE1	ORPHA:88644
HP:0007772	Impaired smooth pursuit	255928	SYT14	OMIM:614229
HP:0007772	Impaired smooth pursuit	54974	THG1L	OMIM:618800
HP:0007772	Impaired smooth pursuit	283989	TSEN54	OMIM:277470
HP:0007772	Impaired smooth pursuit	51259	TMEM216	OMIM:608091
HP:0007772	Impaired smooth pursuit	56623	INPP5E	OMIM:213300
HP:0007772	Impaired smooth pursuit	5048	PAFAH1B1	ORPHA:95232
HP:0007772	Impaired smooth pursuit	4361	MRE11	OMIM:604391
HP:0007772	Impaired smooth pursuit	724066	ATXN8	ORPHA:98760
HP:0007772	Impaired smooth pursuit	724066	ATXN8	OMIM:608768
HP:0007772	Impaired smooth pursuit	6315	ATXN8OS	ORPHA:98760
HP:0007772	Impaired smooth pursuit	6315	ATXN8OS	OMIM:608768
HP:0007772	Impaired smooth pursuit	25814	ATXN10	ORPHA:98761
HP:0007772	Impaired smooth pursuit	25814	ATXN10	OMIM:603516
HP:0007772	Impaired smooth pursuit	463	ZFHX3	OMIM:600223
HP:0007772	Impaired smooth pursuit	5162	PDHB	ORPHA:255138
HP:0007772	Impaired smooth pursuit	2512	FTL	ORPHA:157846
HP:0007772	Impaired smooth pursuit	6712	SPTBN2	OMIM:600224
HP:0007772	Impaired smooth pursuit	10528	NOP56	OMIM:614153
HP:0007772	Impaired smooth pursuit	2782	GNB1	ORPHA:488613
HP:0007772	Impaired smooth pursuit	2782	GNB1	OMIM:616973
HP:0007772	Impaired smooth pursuit	5192	PEX10	OMIM:614871
HP:0007772	Impaired smooth pursuit	5192	PEX10	ORPHA:247815
HP:0007772	Impaired smooth pursuit	10352	WARS2	ORPHA:572798
HP:0007772	Impaired smooth pursuit	2259	FGF14	OMIM:193003
HP:0007772	Impaired smooth pursuit	3781	KCNN2	OMIM:619724
HP:0007772	Impaired smooth pursuit	7287	TULP1	OMIM:613843
HP:0007772	Impaired smooth pursuit	8398	PLA2G6	OMIM:610217
HP:0007772	Impaired smooth pursuit	6785	ELOVL4	OMIM:133190
HP:0007772	Impaired smooth pursuit	26278	SACS	OMIM:270550
HP:0007772	Impaired smooth pursuit	3703	STT3A	ORPHA:370921
HP:0007773	Vitreoretinopathy	80781	COL18A1	OMIM:267750
HP:0007773	Vitreoretinopathy	80781	COL18A1	ORPHA:1571
HP:0007773	Vitreoretinopathy	1280	COL2A1	ORPHA:485
HP:0007773	Vitreoretinopathy	1280	COL2A1	OMIM:183900
HP:0007773	Vitreoretinopathy	1280	COL2A1	OMIM:108300
HP:0007773	Vitreoretinopathy	10002	NR2E3	OMIM:268100
HP:0007773	Vitreoretinopathy	1301	COL11A1	OMIM:154780
HP:0007773	Vitreoretinopathy	1301	COL11A1	ORPHA:560
HP:0007773	Vitreoretinopathy	4693	NDP	ORPHA:891
HP:0007773	Vitreoretinopathy	1499	CTNNB1	ORPHA:891
HP:0007773	Vitreoretinopathy	23554	TSPAN12	ORPHA:891
HP:0007773	Vitreoretinopathy	4041	LRP5	ORPHA:891
HP:0007773	Vitreoretinopathy	4041	LRP5	OMIM:259770
HP:0007773	Vitreoretinopathy	79797	ZNF408	ORPHA:891
HP:0007773	Vitreoretinopathy	8322	FZD4	ORPHA:891
HP:0007773	Vitreoretinopathy	726	CAPN5	OMIM:193235
HP:0007773	Vitreoretinopathy	1298	COL9A2	OMIM:614284
HP:0007773	Vitreoretinopathy	1298	COL9A2	ORPHA:250984
HP:0007773	Vitreoretinopathy	23418	CRB1	OMIM:172870
HP:0007773	Vitreoretinopathy	1297	COL9A1	ORPHA:250984
HP:0007773	Vitreoretinopathy	1299	COL9A3	ORPHA:250984
HP:0007773	Vitreoretinopathy	5062	PAK2	OMIM:618458
HP:0007773	Vitreoretinopathy	5062	PAK2	ORPHA:1571
HP:0007773	Vitreoretinopathy	1462	VCAN	OMIM:143200
HP:0007773	Vitreoretinopathy	2065	ERBB3	OMIM:607598
HP:0007773	Vitreoretinopathy	1302	COL11A2	ORPHA:1427
HP:0007773	Vitreoretinopathy	3769	KCNJ13	OMIM:193230
HP:0007773	Vitreoretinopathy	8314	BAP1	OMIM:619762
HP:0007773	Vitreoretinopathy	55214	P3H2	OMIM:614292
HP:0007774	Hypoplasia of the ciliary body	3913	LAMB2	OMIM:609049
HP:0007778	Posterior retinal neovascularization	726	CAPN5	OMIM:193235
HP:0007779	Anterior segment of eye aplasia	2301	FOXE3	OMIM:610256
HP:0000505	Visual impairment	26191	PTPN22	ORPHA:397
HP:0000505	Visual impairment	26191	PTPN22	ORPHA:900
HP:0000505	Visual impairment	26191	PTPN22	ORPHA:3437
HP:0000505	Visual impairment	3106	HLA-B	ORPHA:397
HP:0000505	Visual impairment	3106	HLA-B	ORPHA:3287
HP:0000505	Visual impairment	3106	HLA-B	ORPHA:36426
HP:0000505	Visual impairment	3123	HLA-DRB1	ORPHA:397
HP:0000505	Visual impairment	8974	P4HA2	ORPHA:397
HP:0000505	Visual impairment	1409	CRYAA	OMIM:604219
HP:0000505	Visual impairment	1497	CTNS	OMIM:219800
HP:0000505	Visual impairment	1497	CTNS	ORPHA:411641
HP:0000505	Visual impairment	2218	FKTN	ORPHA:272
HP:0000505	Visual impairment	2218	FKTN	ORPHA:588
HP:0000505	Visual impairment	5949	RBP3	OMIM:615233
HP:0000505	Visual impairment	5949	RBP3	ORPHA:791
HP:0000505	Visual impairment	2697	GJA1	ORPHA:1522
HP:0000505	Visual impairment	2697	GJA1	ORPHA:2710
HP:0000505	Visual impairment	56172	ANKH	ORPHA:1522
HP:0000505	Visual impairment	2200	FBN1	ORPHA:1885
HP:0000505	Visual impairment	54507	ADAMTSL4	ORPHA:1885
HP:0000505	Visual impairment	1024	CDK8	OMIM:618748
HP:0000505	Visual impairment	7299	TYR	OMIM:203100
HP:0000505	Visual impairment	7299	TYR	OMIM:606952
HP:0000505	Visual impairment	7299	TYR	ORPHA:79431
HP:0000505	Visual impairment	7299	TYR	ORPHA:79434
HP:0000505	Visual impairment	19	ABCA1	OMIM:205400
HP:0000505	Visual impairment	1161	ERCC8	ORPHA:90321
HP:0000505	Visual impairment	1161	ERCC8	ORPHA:90322
HP:0000505	Visual impairment	2072	ERCC4	ORPHA:90321
HP:0000505	Visual impairment	2072	ERCC4	OMIM:610965
HP:0000505	Visual impairment	2072	ERCC4	ORPHA:84
HP:0000505	Visual impairment	2074	ERCC6	ORPHA:90321
HP:0000505	Visual impairment	2074	ERCC6	ORPHA:90322
HP:0000505	Visual impairment	2074	ERCC6	ORPHA:1466
HP:0000505	Visual impairment	2067	ERCC1	ORPHA:90322
HP:0000505	Visual impairment	2067	ERCC1	ORPHA:1466
HP:0000505	Visual impairment	4072	EPCAM	ORPHA:144
HP:0000505	Visual impairment	4292	MLH1	ORPHA:144
HP:0000505	Visual impairment	5395	PMS2	ORPHA:144
HP:0000505	Visual impairment	7048	TGFBR2	ORPHA:144
HP:0000505	Visual impairment	3845	KRAS	ORPHA:144
HP:0000505	Visual impairment	5290	PIK3CA	ORPHA:144
HP:0000505	Visual impairment	2956	MSH6	ORPHA:144
HP:0000505	Visual impairment	5378	PMS1	ORPHA:144
HP:0000505	Visual impairment	4436	MSH2	ORPHA:144
HP:0000505	Visual impairment	5322	PLA2G5	OMIM:228980
HP:0000505	Visual impairment	200205	IBA57	OMIM:616451
HP:0000505	Visual impairment	200205	IBA57	ORPHA:468661
HP:0000505	Visual impairment	200205	IBA57	OMIM:615330
HP:0000505	Visual impairment	64218	SEMA4A	ORPHA:440437
HP:0000505	Visual impairment	64218	SEMA4A	ORPHA:1872
HP:0000505	Visual impairment	64218	SEMA4A	ORPHA:791
HP:0000505	Visual impairment	472	ATM	ORPHA:440437
HP:0000505	Visual impairment	5426	POLE	ORPHA:440437
HP:0000505	Visual impairment	675	BRCA2	ORPHA:440437
HP:0000505	Visual impairment	675	BRCA2	ORPHA:84
HP:0000505	Visual impairment	657	BMPR1A	ORPHA:440437
HP:0000505	Visual impairment	6224	RPS20	ORPHA:440437
HP:0000505	Visual impairment	4595	MUTYH	ORPHA:440437
HP:0000505	Visual impairment	5424	POLD1	ORPHA:440437
HP:0000505	Visual impairment	11200	CHEK2	ORPHA:440437
HP:0000505	Visual impairment	26504	CNNM4	ORPHA:1873
HP:0000505	Visual impairment	26504	CNNM4	OMIM:217080
HP:0000505	Visual impairment	79639	TMEM53	OMIM:619727
HP:0000505	Visual impairment	166378	AFG2A	OMIM:616577
HP:0000505	Visual impairment	166378	AFG2A	ORPHA:457351
HP:0000505	Visual impairment	27229	TUBGCP4	OMIM:616335
HP:0000505	Visual impairment	27229	TUBGCP4	ORPHA:2518
HP:0000505	Visual impairment	8842	PROM1	ORPHA:1872
HP:0000505	Visual impairment	8842	PROM1	ORPHA:791
HP:0000505	Visual impairment	22926	ATF6	ORPHA:1872
HP:0000505	Visual impairment	64802	NMNAT1	ORPHA:1872
HP:0000505	Visual impairment	64802	NMNAT1	OMIM:619260
HP:0000505	Visual impairment	84839	RAX2	ORPHA:1872
HP:0000505	Visual impairment	57096	RPGRIP1	ORPHA:1872
HP:0000505	Visual impairment	57096	RPGRIP1	OMIM:608194
HP:0000505	Visual impairment	24	ABCA4	ORPHA:1872
HP:0000505	Visual impairment	24	ABCA4	ORPHA:791
HP:0000505	Visual impairment	24	ABCA4	OMIM:601718
HP:0000505	Visual impairment	1261	CNGA3	ORPHA:1872
HP:0000505	Visual impairment	92211	CDHR1	ORPHA:1872
HP:0000505	Visual impairment	92211	CDHR1	ORPHA:791
HP:0000505	Visual impairment	5956	OPN1LW	ORPHA:1872
HP:0000505	Visual impairment	5956	OPN1LW	ORPHA:16
HP:0000505	Visual impairment	5956	OPN1LW	OMIM:303700
HP:0000505	Visual impairment	5961	PRPH2	ORPHA:1872
HP:0000505	Visual impairment	5961	PRPH2	ORPHA:99000
HP:0000505	Visual impairment	5961	PRPH2	ORPHA:791
HP:0000505	Visual impairment	5961	PRPH2	OMIM:608161
HP:0000505	Visual impairment	5961	PRPH2	ORPHA:75377
HP:0000505	Visual impairment	755	CFAP410	ORPHA:1872
HP:0000505	Visual impairment	778	CACNA1F	ORPHA:1872
HP:0000505	Visual impairment	778	CACNA1F	OMIM:300476
HP:0000505	Visual impairment	778	CACNA1F	OMIM:300071
HP:0000505	Visual impairment	8754	ADAM9	ORPHA:1872
HP:0000505	Visual impairment	8754	ADAM9	OMIM:612775
HP:0000505	Visual impairment	3000	GUCY2D	ORPHA:1872
HP:0000505	Visual impairment	3000	GUCY2D	ORPHA:75377
HP:0000505	Visual impairment	22999	RIMS1	ORPHA:1872
HP:0000505	Visual impairment	128338	DRAM2	ORPHA:1872
HP:0000505	Visual impairment	6103	RPGR	ORPHA:1872
HP:0000505	Visual impairment	6103	RPGR	OMIM:304020
HP:0000505	Visual impairment	6103	RPGR	ORPHA:791
HP:0000505	Visual impairment	2652	OPN1MW	ORPHA:1872
HP:0000505	Visual impairment	2652	OPN1MW	ORPHA:16
HP:0000505	Visual impairment	2652	OPN1MW	OMIM:303700
HP:0000505	Visual impairment	1406	CRX	ORPHA:1872
HP:0000505	Visual impairment	1406	CRX	ORPHA:791
HP:0000505	Visual impairment	1406	CRX	OMIM:613829
HP:0000505	Visual impairment	9094	UNC119	ORPHA:1872
HP:0000505	Visual impairment	93589	CACNA2D4	ORPHA:1872
HP:0000505	Visual impairment	93589	CACNA2D4	OMIM:610478
HP:0000505	Visual impairment	2978	GUCA1A	ORPHA:1872
HP:0000505	Visual impairment	2978	GUCA1A	ORPHA:1871
HP:0000505	Visual impairment	2978	GUCA1A	ORPHA:75377
HP:0000505	Visual impairment	282809	POC1B	ORPHA:1872
HP:0000505	Visual impairment	282809	POC1B	OMIM:615973
HP:0000505	Visual impairment	83394	PITPNM3	ORPHA:1872
HP:0000505	Visual impairment	23093	TTLL5	ORPHA:1872
HP:0000505	Visual impairment	83723	TLCD3B	ORPHA:1872
HP:0000505	Visual impairment	157657	CFAP418	ORPHA:1872
HP:0000505	Visual impairment	157657	CFAP418	ORPHA:791
HP:0000505	Visual impairment	23746	AIPL1	ORPHA:1872
HP:0000505	Visual impairment	9364	RAB28	ORPHA:1872
HP:0000505	Visual impairment	5146	PDE6C	ORPHA:1871
HP:0000505	Visual impairment	5146	PDE6C	OMIM:613093
HP:0000505	Visual impairment	2780	GNAT2	ORPHA:1871
HP:0000505	Visual impairment	2780	GNAT2	OMIM:613856
HP:0000505	Visual impairment	54714	CNGB3	ORPHA:1871
HP:0000505	Visual impairment	10730	YME1L1	OMIM:617302
HP:0000505	Visual impairment	85015	USP45	OMIM:618513
HP:0000505	Visual impairment	84197	POMK	OMIM:615249
HP:0000505	Visual impairment	7439	BEST1	ORPHA:99000
HP:0000505	Visual impairment	7439	BEST1	ORPHA:791
HP:0000505	Visual impairment	7439	BEST1	ORPHA:1243
HP:0000505	Visual impairment	7439	BEST1	OMIM:153700
HP:0000505	Visual impairment	50939	IMPG2	ORPHA:99000
HP:0000505	Visual impairment	50939	IMPG2	ORPHA:791
HP:0000505	Visual impairment	3617	IMPG1	ORPHA:99000
HP:0000505	Visual impairment	3617	IMPG1	ORPHA:791
HP:0000505	Visual impairment	6023	RMRP	ORPHA:175
HP:0000505	Visual impairment	284058	KANSL1	ORPHA:363958
HP:0000505	Visual impairment	284058	KANSL1	ORPHA:363965
HP:0000505	Visual impairment	535	ATP6V0A1	OMIM:619970
HP:0000505	Visual impairment	283652	SLC24A5	OMIM:113750
HP:0000505	Visual impairment	91869	RFT1	ORPHA:244310
HP:0000505	Visual impairment	816	CAMK2B	OMIM:617799
HP:0000505	Visual impairment	815	CAMK2A	OMIM:617798
HP:0000505	Visual impairment	3423	IDS	ORPHA:217085
HP:0000505	Visual impairment	3423	IDS	ORPHA:217093
HP:0000505	Visual impairment	80201	HKDC1	OMIM:619614
HP:0000505	Visual impairment	83480	PUS3	ORPHA:488627
HP:0000505	Visual impairment	157680	VPS13B	OMIM:216550
HP:0000505	Visual impairment	1420	CRYGC	OMIM:604307
HP:0000505	Visual impairment	55714	TENM3	OMIM:615145
HP:0000505	Visual impairment	80208	SPG11	ORPHA:2822
HP:0000505	Visual impairment	80208	SPG11	OMIM:604360
HP:0000505	Visual impairment	388962	BOLA3	OMIM:614299
HP:0000505	Visual impairment	5950	RBP4	OMIM:615147
HP:0000505	Visual impairment	167691	LCA5	OMIM:604537
HP:0000505	Visual impairment	167691	LCA5	ORPHA:364055
HP:0000505	Visual impairment	7401	CLRN1	OMIM:614180
HP:0000505	Visual impairment	7401	CLRN1	ORPHA:791
HP:0000505	Visual impairment	25794	FSCN2	OMIM:607921
HP:0000505	Visual impairment	25794	FSCN2	ORPHA:791
HP:0000505	Visual impairment	5518	PPP2R1A	OMIM:616362
HP:0000505	Visual impairment	7157	TP53	ORPHA:2807
HP:0000505	Visual impairment	7157	TP53	ORPHA:3318
HP:0000505	Visual impairment	51604	PIGT	OMIM:615398
HP:0000505	Visual impairment	11277	TREX1	OMIM:192315
HP:0000505	Visual impairment	23126	POGZ	OMIM:616364
HP:0000505	Visual impairment	23126	POGZ	ORPHA:468678
HP:0000505	Visual impairment	3769	KCNJ13	OMIM:614186
HP:0000505	Visual impairment	9681	DEPDC5	OMIM:620504
HP:0000505	Visual impairment	57282	SLC4A10	OMIM:620746
HP:0000505	Visual impairment	150468	CKAP2L	OMIM:272440
HP:0000505	Visual impairment	5590	PRKCZ	ORPHA:1606
HP:0000505	Visual impairment	2563	GABRD	ORPHA:1606
HP:0000505	Visual impairment	23013	SPEN	ORPHA:1606
HP:0000505	Visual impairment	8510	MMP23B	ORPHA:1606
HP:0000505	Visual impairment	7798	LUZP1	ORPHA:1606
HP:0000505	Visual impairment	6497	SKI	ORPHA:1606
HP:0000505	Visual impairment	10630	PDPN	ORPHA:1606
HP:0000505	Visual impairment	3339	HSPG2	ORPHA:1606
HP:0000505	Visual impairment	3339	HSPG2	ORPHA:800
HP:0000505	Visual impairment	10277	UBE4B	ORPHA:1606
HP:0000505	Visual impairment	8514	KCNAB2	ORPHA:1606
HP:0000505	Visual impairment	473	RERE	ORPHA:1606
HP:0000505	Visual impairment	63976	PRDM16	ORPHA:1606
HP:0000505	Visual impairment	54897	CASZ1	ORPHA:1606
HP:0000505	Visual impairment	148789	B3GALNT2	ORPHA:588
HP:0000505	Visual impairment	29925	GMPPB	ORPHA:588
HP:0000505	Visual impairment	79147	FKRP	ORPHA:588
HP:0000505	Visual impairment	9215	LARGE1	ORPHA:588
HP:0000505	Visual impairment	29954	POMT2	ORPHA:588
HP:0000505	Visual impairment	729920	CRPPA	ORPHA:588
HP:0000505	Visual impairment	55624	POMGNT1	ORPHA:588
HP:0000505	Visual impairment	55624	POMGNT1	ORPHA:791
HP:0000505	Visual impairment	10585	POMT1	ORPHA:588
HP:0000505	Visual impairment	285362	SUMF1	ORPHA:585
HP:0000505	Visual impairment	8517	IKBKG	ORPHA:464
HP:0000505	Visual impairment	122961	ISCA2	OMIM:616370
HP:0000505	Visual impairment	8733	GPAA1	ORPHA:529665
HP:0000505	Visual impairment	8733	GPAA1	OMIM:617810
HP:0000505	Visual impairment	84343	HPS3	OMIM:614072
HP:0000505	Visual impairment	2232	FDXR	ORPHA:543470
HP:0000505	Visual impairment	2232	FDXR	OMIM:617717
HP:0000505	Visual impairment	10991	SLC38A3	OMIM:619881
HP:0000505	Visual impairment	84062	DTNBP1	OMIM:614076
HP:0000505	Visual impairment	56947	MFF	ORPHA:485421
HP:0000505	Visual impairment	56947	MFF	OMIM:617086
HP:0000505	Visual impairment	2271	FH	OMIM:606812
HP:0000505	Visual impairment	197258	FCSK	OMIM:618324
HP:0000505	Visual impairment	9922	IQSEC1	OMIM:618687
HP:0000505	Visual impairment	85365	ALG2	OMIM:607906
HP:0000505	Visual impairment	2395	FXN	OMIM:229300
HP:0000505	Visual impairment	125988	MICOS13	OMIM:618329
HP:0000505	Visual impairment	125988	MICOS13	ORPHA:67047
HP:0000505	Visual impairment	2779	GNAT1	OMIM:616389
HP:0000505	Visual impairment	84131	CEP78	OMIM:617236
HP:0000505	Visual impairment	80173	IFT74	OMIM:617119
HP:0000505	Visual impairment	2055	CLN8	ORPHA:1947
HP:0000505	Visual impairment	100151683	RNU4ATAC	ORPHA:1824
HP:0000505	Visual impairment	84100	ARL6	OMIM:600151
HP:0000505	Visual impairment	84100	ARL6	ORPHA:791
HP:0000505	Visual impairment	57192	MCOLN1	OMIM:252650
HP:0000505	Visual impairment	5080	PAX6	OMIM:136520
HP:0000505	Visual impairment	5080	PAX6	ORPHA:893
HP:0000505	Visual impairment	5080	PAX6	OMIM:165550
HP:0000505	Visual impairment	9896	FIG4	ORPHA:208441
HP:0000505	Visual impairment	8295	TRRAP	OMIM:618454
HP:0000505	Visual impairment	2202	EFEMP1	OMIM:126600
HP:0000505	Visual impairment	2202	EFEMP1	ORPHA:98977
HP:0000505	Visual impairment	27145	FILIP1	OMIM:620775
HP:0000505	Visual impairment	6857	SYT1	OMIM:618218
HP:0000505	Visual impairment	8803	SUCLA2	ORPHA:1933
HP:0000505	Visual impairment	2260	FGFR1	ORPHA:478
HP:0000505	Visual impairment	2260	FGFR1	ORPHA:3157
HP:0000505	Visual impairment	10371	SEMA3A	ORPHA:478
HP:0000505	Visual impairment	81848	SPRY4	ORPHA:478
HP:0000505	Visual impairment	23767	FLRT3	ORPHA:478
HP:0000505	Visual impairment	128674	PROKR2	ORPHA:478
HP:0000505	Visual impairment	128674	PROKR2	ORPHA:3157
HP:0000505	Visual impairment	79625	NDNF	ORPHA:478
HP:0000505	Visual impairment	2253	FGF8	ORPHA:478
HP:0000505	Visual impairment	389549	FEZF1	ORPHA:478
HP:0000505	Visual impairment	1630	DCC	ORPHA:478
HP:0000505	Visual impairment	1630	DCC	ORPHA:2744
HP:0000505	Visual impairment	3730	ANOS1	ORPHA:478
HP:0000505	Visual impairment	54756	IL17RD	ORPHA:478
HP:0000505	Visual impairment	6663	SOX10	ORPHA:478
HP:0000505	Visual impairment	285025	CCDC141	ORPHA:478
HP:0000505	Visual impairment	60675	PROK2	ORPHA:478
HP:0000505	Visual impairment	55636	CHD7	ORPHA:478
HP:0000505	Visual impairment	1848	DUSP6	ORPHA:478
HP:0000505	Visual impairment	6870	TACR3	ORPHA:478
HP:0000505	Visual impairment	55717	WDR11	ORPHA:478
HP:0000505	Visual impairment	9394	HS6ST1	ORPHA:478
HP:0000505	Visual impairment	8820	HESX1	ORPHA:478
HP:0000505	Visual impairment	8820	HESX1	ORPHA:3157
HP:0000505	Visual impairment	8822	FGF17	ORPHA:478
HP:0000505	Visual impairment	64132	XYLT2	OMIM:605822
HP:0000505	Visual impairment	64132	XYLT2	OMIM:264800
HP:0000505	Visual impairment	291	SLC25A4	ORPHA:254892
HP:0000505	Visual impairment	5428	POLG	ORPHA:254892
HP:0000505	Visual impairment	5428	POLG	OMIM:258450
HP:0000505	Visual impairment	5428	POLG	ORPHA:254886
HP:0000505	Visual impairment	56652	TWNK	ORPHA:254892
HP:0000505	Visual impairment	11232	POLG2	ORPHA:254892
HP:0000505	Visual impairment	50484	RRM2B	ORPHA:254892
HP:0000505	Visual impairment	50484	RRM2B	OMIM:268315
HP:0000505	Visual impairment	9488	PIGB	OMIM:618580
HP:0000505	Visual impairment	92840	REEP6	ORPHA:791
HP:0000505	Visual impairment	6094	ROM1	ORPHA:791
HP:0000505	Visual impairment	6017	RLBP1	ORPHA:791
HP:0000505	Visual impairment	130557	ZNF513	ORPHA:791
HP:0000505	Visual impairment	582	BBS1	ORPHA:791
HP:0000505	Visual impairment	23568	ARL2BP	ORPHA:791
HP:0000505	Visual impairment	6121	RPE65	ORPHA:791
HP:0000505	Visual impairment	6121	RPE65	ORPHA:364055
HP:0000505	Visual impairment	6121	RPE65	OMIM:613794
HP:0000505	Visual impairment	54806	AHI1	ORPHA:791
HP:0000505	Visual impairment	54806	AHI1	OMIM:608629
HP:0000505	Visual impairment	6101	RP1	ORPHA:791
HP:0000505	Visual impairment	3419	IDH3A	ORPHA:791
HP:0000505	Visual impairment	4751	NEK2	ORPHA:791
HP:0000505	Visual impairment	346007	EYS	ORPHA:791
HP:0000505	Visual impairment	8100	IFT88	ORPHA:791
HP:0000505	Visual impairment	23020	SNRNP200	ORPHA:791
HP:0000505	Visual impairment	23020	SNRNP200	OMIM:610359
HP:0000505	Visual impairment	762	CA4	ORPHA:791
HP:0000505	Visual impairment	138050	HGSNAT	ORPHA:791
HP:0000505	Visual impairment	196	AHR	ORPHA:791
HP:0000505	Visual impairment	3614	IMPDH1	ORPHA:791
HP:0000505	Visual impairment	3614	IMPDH1	OMIM:613837
HP:0000505	Visual impairment	123016	TTC8	ORPHA:791
HP:0000505	Visual impairment	123016	TTC8	OMIM:613464
HP:0000505	Visual impairment	5148	PDE6G	ORPHA:791
HP:0000505	Visual impairment	26160	IFT172	ORPHA:791
HP:0000505	Visual impairment	26121	PRPF31	ORPHA:791
HP:0000505	Visual impairment	583	BBS2	ORPHA:791
HP:0000505	Visual impairment	4117	MAK	ORPHA:791
HP:0000505	Visual impairment	375298	CERKL	ORPHA:791
HP:0000505	Visual impairment	375298	CERKL	OMIM:608380
HP:0000505	Visual impairment	3420	IDH3B	ORPHA:791
HP:0000505	Visual impairment	3420	IDH3B	OMIM:612572
HP:0000505	Visual impairment	57670	KIAA1549	ORPHA:791
HP:0000505	Visual impairment	7275	TUB	ORPHA:791
HP:0000505	Visual impairment	7275	TUB	OMIM:616188
HP:0000505	Visual impairment	24148	PRPF6	ORPHA:791
HP:0000505	Visual impairment	24148	PRPF6	OMIM:613983
HP:0000505	Visual impairment	23418	CRB1	ORPHA:791
HP:0000505	Visual impairment	10461	MERTK	ORPHA:791
HP:0000505	Visual impairment	57709	SLC7A14	ORPHA:791
HP:0000505	Visual impairment	768206	PRCD	ORPHA:791
HP:0000505	Visual impairment	7399	USH2A	ORPHA:791
HP:0000505	Visual impairment	7399	USH2A	OMIM:613809
HP:0000505	Visual impairment	23370	ARHGEF18	ORPHA:791
HP:0000505	Visual impairment	6010	RHO	ORPHA:791
HP:0000505	Visual impairment	6100	RP9	ORPHA:791
HP:0000505	Visual impairment	10002	NR2E3	ORPHA:791
HP:0000505	Visual impairment	9227	LRAT	ORPHA:791
HP:0000505	Visual impairment	9227	LRAT	ORPHA:364055
HP:0000505	Visual impairment	84140	FAM161A	ORPHA:791
HP:0000505	Visual impairment	55812	SPATA7	ORPHA:791
HP:0000505	Visual impairment	55812	SPATA7	ORPHA:364055
HP:0000505	Visual impairment	79797	ZNF408	ORPHA:791
HP:0000505	Visual impairment	403	ARL3	ORPHA:791
HP:0000505	Visual impairment	5145	PDE6A	ORPHA:791
HP:0000505	Visual impairment	5145	PDE6A	OMIM:613810
HP:0000505	Visual impairment	10210	TOPORS	ORPHA:791
HP:0000505	Visual impairment	9128	PRPF4	ORPHA:791
HP:0000505	Visual impairment	145226	RDH12	ORPHA:791
HP:0000505	Visual impairment	57545	CC2D2A	ORPHA:791
HP:0000505	Visual impairment	57545	CC2D2A	ORPHA:2318
HP:0000505	Visual impairment	57545	CC2D2A	ORPHA:1454
HP:0000505	Visual impairment	8481	OFD1	ORPHA:791
HP:0000505	Visual impairment	49855	SCAPER	ORPHA:791
HP:0000505	Visual impairment	9742	IFT140	ORPHA:791
HP:0000505	Visual impairment	2979	GUCA1B	ORPHA:791
HP:0000505	Visual impairment	2979	GUCA1B	OMIM:613827
HP:0000505	Visual impairment	1259	CNGA1	ORPHA:791
HP:0000505	Visual impairment	1258	CNGB1	ORPHA:791
HP:0000505	Visual impairment	60509	AGBL5	ORPHA:791
HP:0000505	Visual impairment	388939	PCARE	ORPHA:791
HP:0000505	Visual impairment	388939	PCARE	OMIM:613428
HP:0000505	Visual impairment	9785	DHX38	ORPHA:791
HP:0000505	Visual impairment	7287	TULP1	ORPHA:791
HP:0000505	Visual impairment	7287	TULP1	OMIM:613843
HP:0000505	Visual impairment	5995	RGR	ORPHA:791
HP:0000505	Visual impairment	5995	RGR	OMIM:613769
HP:0000505	Visual impairment	9129	PRPF3	ORPHA:791
HP:0000505	Visual impairment	55975	KLHL7	ORPHA:791
HP:0000505	Visual impairment	94137	RP1L1	ORPHA:791
HP:0000505	Visual impairment	5158	PDE6B	ORPHA:791
HP:0000505	Visual impairment	6102	RP2	ORPHA:791
HP:0000505	Visual impairment	55857	KIZ	ORPHA:791
HP:0000505	Visual impairment	4901	NRL	ORPHA:791
HP:0000505	Visual impairment	4901	NRL	OMIM:613750
HP:0000505	Visual impairment	10594	PRPF8	ORPHA:791
HP:0000505	Visual impairment	6295	SAG	ORPHA:791
HP:0000505	Visual impairment	6295	SAG	ORPHA:75382
HP:0000505	Visual impairment	6295	SAG	OMIM:613758
HP:0000505	Visual impairment	79947	DHDDS	ORPHA:791
HP:0000505	Visual impairment	50	ACO2	OMIM:616289
HP:0000505	Visual impairment	54892	NCAPG2	OMIM:618460
HP:0000505	Visual impairment	83548	COG3	OMIM:620546
HP:0000505	Visual impairment	51259	TMEM216	OMIM:608091
HP:0000505	Visual impairment	51259	TMEM216	ORPHA:2318
HP:0000505	Visual impairment	51117	COQ4	OMIM:620666
HP:0000505	Visual impairment	84320	ACBD6	OMIM:620785
HP:0000505	Visual impairment	10102	TSFM	OMIM:610505
HP:0000505	Visual impairment	2263	FGFR2	OMIM:123500
HP:0000505	Visual impairment	2263	FGFR2	ORPHA:87
HP:0000505	Visual impairment	10312	TCIRG1	ORPHA:667
HP:0000505	Visual impairment	10312	TCIRG1	OMIM:259700
HP:0000505	Visual impairment	10312	TCIRG1	ORPHA:210110
HP:0000505	Visual impairment	1186	CLCN7	ORPHA:667
HP:0000505	Visual impairment	1186	CLCN7	OMIM:611490
HP:0000505	Visual impairment	1186	CLCN7	ORPHA:53
HP:0000505	Visual impairment	1186	CLCN7	ORPHA:210110
HP:0000505	Visual impairment	29887	SNX10	ORPHA:667
HP:0000505	Visual impairment	8600	TNFSF11	ORPHA:667
HP:0000505	Visual impairment	55630	SLC39A4	ORPHA:37
HP:0000505	Visual impairment	10733	PLK4	OMIM:616171
HP:0000505	Visual impairment	10733	PLK4	ORPHA:2518
HP:0000505	Visual impairment	256471	MFSD8	OMIM:616170
HP:0000505	Visual impairment	2581	GALC	ORPHA:206443
HP:0000505	Visual impairment	1349	COX7B	OMIM:300887
HP:0000505	Visual impairment	5515	PPP2CA	OMIM:618354
HP:0000505	Visual impairment	7084	TK2	ORPHA:254886
HP:0000505	Visual impairment	1436	CSF1R	OMIM:618476
HP:0000505	Visual impairment	478	ATP1A3	OMIM:601338
HP:0000505	Visual impairment	10978	CLP1	ORPHA:411493
HP:0000505	Visual impairment	8867	SYNJ1	OMIM:617389
HP:0000505	Visual impairment	4081	MAB21L1	OMIM:618479
HP:0000505	Visual impairment	4081	MAB21L1	ORPHA:495875
HP:0000505	Visual impairment	1654	DDX3X	ORPHA:457260
HP:0000505	Visual impairment	10059	DNM1L	ORPHA:98673
HP:0000505	Visual impairment	4976	OPA1	ORPHA:98673
HP:0000505	Visual impairment	4976	OPA1	OMIM:165500
HP:0000505	Visual impairment	4976	OPA1	OMIM:210000
HP:0000505	Visual impairment	4976	OPA1	OMIM:125250
HP:0000505	Visual impairment	6785	ELOVL4	OMIM:600110
HP:0000505	Visual impairment	55777	MBD5	OMIM:156200
HP:0000505	Visual impairment	5980	REV3L	ORPHA:570
HP:0000505	Visual impairment	23129	PLXND1	ORPHA:570
HP:0000505	Visual impairment	57551	TAOK1	OMIM:619575
HP:0000505	Visual impairment	79955	PDZD7	OMIM:618003
HP:0000505	Visual impairment	3119	HLA-DQB1	OMIM:123400
HP:0000505	Visual impairment	5621	PRNP	OMIM:123400
HP:0000505	Visual impairment	8260	NAA10	ORPHA:568
HP:0000505	Visual impairment	54880	BCOR	ORPHA:568
HP:0000505	Visual impairment	444	ASPH	OMIM:601552
HP:0000505	Visual impairment	112812	FDX2	OMIM:251900
HP:0000505	Visual impairment	51102	MECR	OMIM:617282
HP:0000505	Visual impairment	1301	COL11A1	ORPHA:560
HP:0000505	Visual impairment	26040	SETBP1	OMIM:616078
HP:0000505	Visual impairment	26040	SETBP1	ORPHA:798
HP:0000505	Visual impairment	84705	GTPBP3	OMIM:616198
HP:0000505	Visual impairment	84705	GTPBP3	ORPHA:444013
HP:0000505	Visual impairment	5144	PDE4D	ORPHA:439822
HP:0000505	Visual impairment	1974	EIF4A2	OMIM:620455
HP:0000505	Visual impairment	388531	RGS9BP	ORPHA:75374
HP:0000505	Visual impairment	8787	RGS9	ORPHA:75374
HP:0000505	Visual impairment	11340	EXOSC8	OMIM:616081
HP:0000505	Visual impairment	57187	THOC2	OMIM:300957
HP:0000505	Visual impairment	4041	LRP5	ORPHA:178377
HP:0000505	Visual impairment	94005	PIGS	OMIM:618143
HP:0000505	Visual impairment	4070	TACSTD2	OMIM:204870
HP:0000505	Visual impairment	80184	CEP290	OMIM:611755
HP:0000505	Visual impairment	80184	CEP290	ORPHA:3156
HP:0000505	Visual impairment	80184	CEP290	OMIM:610189
HP:0000505	Visual impairment	80184	CEP290	ORPHA:2318
HP:0000505	Visual impairment	4810	NHS	ORPHA:627
HP:0000505	Visual impairment	57010	CABP4	OMIM:610427
HP:0000505	Visual impairment	29926	GMPPA	ORPHA:869
HP:0000505	Visual impairment	60684	TRAPPC11	ORPHA:869
HP:0000505	Visual impairment	8086	AAAS	ORPHA:869
HP:0000505	Visual impairment	5184	PEPD	ORPHA:742
HP:0000505	Visual impairment	84172	POLR1B	ORPHA:861
HP:0000505	Visual impairment	9533	POLR1C	ORPHA:861
HP:0000505	Visual impairment	51082	POLR1D	ORPHA:861
HP:0000505	Visual impairment	6949	TCOF1	ORPHA:861
HP:0000505	Visual impairment	6011	GRK1	ORPHA:75382
HP:0000505	Visual impairment	374354	NHLRC2	OMIM:618278
HP:0000505	Visual impairment	64131	XYLT1	OMIM:264800
HP:0000505	Visual impairment	368	ABCC6	OMIM:264800
HP:0000505	Visual impairment	368	ABCC6	ORPHA:758
HP:0000505	Visual impairment	368	ABCC6	OMIM:177850
HP:0000505	Visual impairment	5130	PCYT1A	ORPHA:85167
HP:0000505	Visual impairment	29123	ANKRD11	ORPHA:261250
HP:0000505	Visual impairment	392255	GDF6	OMIM:613703
HP:0000505	Visual impairment	9573	GDF3	OMIM:613703
HP:0000505	Visual impairment	2799	GNS	OMIM:252940
HP:0000505	Visual impairment	55670	PEX26	ORPHA:772
HP:0000505	Visual impairment	55670	PEX26	OMIM:614873
HP:0000505	Visual impairment	55670	PEX26	ORPHA:44
HP:0000505	Visual impairment	55670	PEX26	ORPHA:912
HP:0000505	Visual impairment	5824	PEX19	ORPHA:772
HP:0000505	Visual impairment	5824	PEX19	ORPHA:44
HP:0000505	Visual impairment	5824	PEX19	ORPHA:912
HP:0000505	Visual impairment	5828	PEX2	ORPHA:772
HP:0000505	Visual impairment	5828	PEX2	OMIM:614867
HP:0000505	Visual impairment	5828	PEX2	ORPHA:44
HP:0000505	Visual impairment	5828	PEX2	ORPHA:912
HP:0000505	Visual impairment	8504	PEX3	ORPHA:772
HP:0000505	Visual impairment	8504	PEX3	ORPHA:44
HP:0000505	Visual impairment	8504	PEX3	ORPHA:912
HP:0000505	Visual impairment	9409	PEX16	ORPHA:772
HP:0000505	Visual impairment	9409	PEX16	OMIM:614877
HP:0000505	Visual impairment	9409	PEX16	ORPHA:44
HP:0000505	Visual impairment	9409	PEX16	ORPHA:912
HP:0000505	Visual impairment	5190	PEX6	ORPHA:772
HP:0000505	Visual impairment	5190	PEX6	OMIM:614863
HP:0000505	Visual impairment	5190	PEX6	ORPHA:44
HP:0000505	Visual impairment	5190	PEX6	ORPHA:912
HP:0000505	Visual impairment	8799	PEX11B	ORPHA:772
HP:0000505	Visual impairment	8799	PEX11B	ORPHA:44
HP:0000505	Visual impairment	8799	PEX11B	ORPHA:912
HP:0000505	Visual impairment	5830	PEX5	ORPHA:772
HP:0000505	Visual impairment	5830	PEX5	ORPHA:44
HP:0000505	Visual impairment	5830	PEX5	ORPHA:912
HP:0000505	Visual impairment	5189	PEX1	ORPHA:772
HP:0000505	Visual impairment	5189	PEX1	ORPHA:44
HP:0000505	Visual impairment	5189	PEX1	ORPHA:912
HP:0000505	Visual impairment	5193	PEX12	ORPHA:772
HP:0000505	Visual impairment	5193	PEX12	ORPHA:44
HP:0000505	Visual impairment	5193	PEX12	ORPHA:912
HP:0000505	Visual impairment	5194	PEX13	ORPHA:772
HP:0000505	Visual impairment	5194	PEX13	ORPHA:44
HP:0000505	Visual impairment	5194	PEX13	ORPHA:912
HP:0000505	Visual impairment	5195	PEX14	ORPHA:772
HP:0000505	Visual impairment	5195	PEX14	ORPHA:44
HP:0000505	Visual impairment	5195	PEX14	ORPHA:912
HP:0000505	Visual impairment	5192	PEX10	ORPHA:772
HP:0000505	Visual impairment	5192	PEX10	OMIM:614871
HP:0000505	Visual impairment	5192	PEX10	ORPHA:44
HP:0000505	Visual impairment	5192	PEX10	ORPHA:912
HP:0000505	Visual impairment	7490	WT1	ORPHA:893
HP:0000505	Visual impairment	627	BDNF	ORPHA:893
HP:0000505	Visual impairment	5264	PHYH	ORPHA:773
HP:0000505	Visual impairment	5191	PEX7	ORPHA:773
HP:0000505	Visual impairment	84295	PHF6	OMIM:301900
HP:0000505	Visual impairment	6389	SDHA	OMIM:619259
HP:0000505	Visual impairment	6389	SDHA	OMIM:252011
HP:0000505	Visual impairment	4157	MC1R	OMIM:203200
HP:0000505	Visual impairment	4948	OCA2	OMIM:203200
HP:0000505	Visual impairment	875	CBS	OMIM:236200
HP:0000505	Visual impairment	3593	IL12B	ORPHA:3287
HP:0000505	Visual impairment	6945	MLX	ORPHA:3287
HP:0000505	Visual impairment	124454	EARS2	OMIM:614924
HP:0000505	Visual impairment	84233	TMEM126A	OMIM:612989
HP:0000505	Visual impairment	1678	TIMM8A	ORPHA:52368
HP:0000505	Visual impairment	1678	TIMM8A	OMIM:304700
HP:0000505	Visual impairment	84842	HPDL	OMIM:619026
HP:0000505	Visual impairment	27161	AGO2	OMIM:619149
HP:0000505	Visual impairment	4921	DDR2	OMIM:618175
HP:0000505	Visual impairment	221927	BRAT1	OMIM:618056
HP:0000505	Visual impairment	84168	ANTXR1	ORPHA:2067
HP:0000505	Visual impairment	3708	ITPR1	OMIM:206700
HP:0000505	Visual impairment	5167	ENPP1	ORPHA:758
HP:0000505	Visual impairment	26146	TRAF3IP1	ORPHA:3156
HP:0000505	Visual impairment	9657	IQCB1	ORPHA:3156
HP:0000505	Visual impairment	10806	SDCCAG8	ORPHA:3156
HP:0000505	Visual impairment	27130	INVS	ORPHA:3156
HP:0000505	Visual impairment	4867	NPHP1	ORPHA:3156
HP:0000505	Visual impairment	261734	NPHP4	ORPHA:3156
HP:0000505	Visual impairment	57728	WDR19	ORPHA:3156
HP:0000505	Visual impairment	57728	WDR19	OMIM:616307
HP:0000505	Visual impairment	57728	WDR19	OMIM:614378
HP:0000505	Visual impairment	27031	NPHP3	ORPHA:3156
HP:0000505	Visual impairment	22897	CEP164	ORPHA:3156
HP:0000505	Visual impairment	6657	SOX2	ORPHA:3157
HP:0000505	Visual impairment	6658	SOX3	ORPHA:3157
HP:0000505	Visual impairment	9915	ARNT2	ORPHA:3157
HP:0000505	Visual impairment	5015	OTX2	ORPHA:3157
HP:0000505	Visual impairment	9898	UBAP2L	OMIM:620494
HP:0000505	Visual impairment	1308	COL17A1	OMIM:122400
HP:0000505	Visual impairment	3476	IGBP1	OMIM:300472
HP:0000505	Visual impairment	27183	VPS4A	OMIM:619273
HP:0000505	Visual impairment	91574	MTRFR	ORPHA:254930
HP:0000505	Visual impairment	91574	MTRFR	OMIM:613559
HP:0000505	Visual impairment	126326	GIPC3	OMIM:601869
HP:0000505	Visual impairment	8506	CNTNAP1	OMIM:618186
HP:0000505	Visual impairment	652	BMP4	ORPHA:828
HP:0000505	Visual impairment	145173	B3GLCT	ORPHA:709
HP:0000505	Visual impairment	324	APC	ORPHA:99818
HP:0000505	Visual impairment	6326	SCN2A	ORPHA:293181
HP:0000505	Visual impairment	57468	SLC12A5	ORPHA:293181
HP:0000505	Visual impairment	23236	PLCB1	ORPHA:293181
HP:0000505	Visual impairment	3785	KCNQ2	ORPHA:293181
HP:0000505	Visual impairment	57582	KCNT1	ORPHA:293181
HP:0000505	Visual impairment	5277	PIGA	ORPHA:293181
HP:0000505	Visual impairment	6323	SCN1A	ORPHA:293181
HP:0000505	Visual impairment	79751	SLC25A22	ORPHA:293181
HP:0000505	Visual impairment	57465	TBC1D24	ORPHA:293181
HP:0000505	Visual impairment	2896	GRN	OMIM:614706
HP:0000505	Visual impairment	10667	FARS2	OMIM:614946
HP:0000505	Visual impairment	7045	TGFBI	ORPHA:98962
HP:0000505	Visual impairment	7045	TGFBI	ORPHA:98963
HP:0000505	Visual impairment	7045	TGFBI	OMIM:608471
HP:0000505	Visual impairment	7045	TGFBI	OMIM:607541
HP:0000505	Visual impairment	51218	GLRX5	ORPHA:401866
HP:0000505	Visual impairment	51218	GLRX5	OMIM:616859
HP:0000505	Visual impairment	170302	ARX	OMIM:300004
HP:0000505	Visual impairment	6392	SDHD	OMIM:619167
HP:0000505	Visual impairment	4552	MTRR	ORPHA:2169
HP:0000505	Visual impairment	56623	INPP5E	ORPHA:75858
HP:0000505	Visual impairment	56623	INPP5E	ORPHA:1454
HP:0000505	Visual impairment	4758	NEU1	ORPHA:812
HP:0000505	Visual impairment	63908	NAPB	OMIM:620033
HP:0000505	Visual impairment	1353	COX11	OMIM:620275
HP:0000505	Visual impairment	2261	FGFR3	ORPHA:93262
HP:0000505	Visual impairment	6452	SH3BP2	OMIM:118400
HP:0000505	Visual impairment	6452	SH3BP2	ORPHA:184
HP:0000505	Visual impairment	57492	ARID1B	OMIM:135900
HP:0000505	Visual impairment	57492	ARID1B	ORPHA:1465
HP:0000505	Visual impairment	9739	SETD1A	OMIM:619056
HP:0000505	Visual impairment	5631	PRPS1	ORPHA:1187
HP:0000505	Visual impairment	8289	ARID1A	OMIM:614607
HP:0000505	Visual impairment	8289	ARID1A	ORPHA:1465
HP:0000505	Visual impairment	7840	ALMS1	OMIM:203800
HP:0000505	Visual impairment	672	BRCA1	ORPHA:84
HP:0000505	Visual impairment	10459	MAD2L2	ORPHA:84
HP:0000505	Visual impairment	7516	XRCC2	ORPHA:84
HP:0000505	Visual impairment	29089	UBE2T	ORPHA:84
HP:0000505	Visual impairment	55120	FANCL	ORPHA:84
HP:0000505	Visual impairment	2177	FANCD2	ORPHA:84
HP:0000505	Visual impairment	2175	FANCA	ORPHA:84
HP:0000505	Visual impairment	2187	FANCB	ORPHA:84
HP:0000505	Visual impairment	2176	FANCC	ORPHA:84
HP:0000505	Visual impairment	2178	FANCE	ORPHA:84
HP:0000505	Visual impairment	2188	FANCF	ORPHA:84
HP:0000505	Visual impairment	2189	FANCG	ORPHA:84
HP:0000505	Visual impairment	5888	RAD51	ORPHA:84
HP:0000505	Visual impairment	5889	RAD51C	ORPHA:84
HP:0000505	Visual impairment	55159	RFWD3	ORPHA:84
HP:0000505	Visual impairment	83990	BRIP1	ORPHA:84
HP:0000505	Visual impairment	57697	FANCM	ORPHA:84
HP:0000505	Visual impairment	79728	PALB2	ORPHA:84
HP:0000505	Visual impairment	84464	SLX4	ORPHA:84
HP:0000505	Visual impairment	55215	FANCI	ORPHA:84
HP:0000505	Visual impairment	6598	SMARCB1	OMIM:614608
HP:0000505	Visual impairment	6598	SMARCB1	ORPHA:1465
HP:0000505	Visual impairment	7276	TTR	OMIM:105210
HP:0000505	Visual impairment	6597	SMARCA4	OMIM:614609
HP:0000505	Visual impairment	6597	SMARCA4	ORPHA:1465
HP:0000505	Visual impairment	7274	TTPA	ORPHA:96
HP:0000505	Visual impairment	9839	ZEB2	ORPHA:261552
HP:0000505	Visual impairment	6999	TDO2	OMIM:600627
HP:0000505	Visual impairment	388551	CEACAM16	OMIM:614614
HP:0000505	Visual impairment	57167	SALL4	ORPHA:959
HP:0000505	Visual impairment	10382	TUBB4A	OMIM:612438
HP:0000505	Visual impairment	443	ASPA	OMIM:271900
HP:0000505	Visual impairment	330	BIRC3	ORPHA:52417
HP:0000505	Visual impairment	10892	MALT1	ORPHA:52417
HP:0000505	Visual impairment	27086	FOXP1	ORPHA:52417
HP:0000505	Visual impairment	3492	IGH	ORPHA:52417
HP:0000505	Visual impairment	8915	BCL10	ORPHA:52417
HP:0000505	Visual impairment	56006	SMG9	OMIM:616920
HP:0000505	Visual impairment	1593	CYP27A1	ORPHA:909
HP:0000505	Visual impairment	9255	AIMP1	OMIM:260600
HP:0000505	Visual impairment	285440	CYP4V2	ORPHA:41751
HP:0000505	Visual impairment	3035	HARS1	OMIM:614504
HP:0000505	Visual impairment	6804	STX1A	ORPHA:904
HP:0000505	Visual impairment	7461	CLIP2	ORPHA:904
HP:0000505	Visual impairment	84277	DNAJC30	ORPHA:904
HP:0000505	Visual impairment	8468	FKBP6	ORPHA:904
HP:0000505	Visual impairment	5982	RFC2	ORPHA:904
HP:0000505	Visual impairment	2969	GTF2I	ORPHA:904
HP:0000505	Visual impairment	3984	LIMK1	ORPHA:904
HP:0000505	Visual impairment	9569	GTF2IRD1	ORPHA:904
HP:0000505	Visual impairment	155382	VPS37D	ORPHA:904
HP:0000505	Visual impairment	155368	METTL27	ORPHA:904
HP:0000505	Visual impairment	114049	BUD23	ORPHA:904
HP:0000505	Visual impairment	7458	EIF4H	ORPHA:904
HP:0000505	Visual impairment	84163	GTF2IRD2	ORPHA:904
HP:0000505	Visual impairment	26608	TBL2	ORPHA:904
HP:0000505	Visual impairment	653361	NCF1	ORPHA:904
HP:0000505	Visual impairment	135886	TMEM270	ORPHA:904
HP:0000505	Visual impairment	9031	BAZ1B	ORPHA:904
HP:0000505	Visual impairment	2006	ELN	ORPHA:904
HP:0000505	Visual impairment	90624	LYRM7	OMIM:615838
HP:0000505	Visual impairment	1493	CTLA4	ORPHA:900
HP:0000505	Visual impairment	3115	HLA-DPB1	ORPHA:900
HP:0000505	Visual impairment	5657	PRTN3	ORPHA:900
HP:0000505	Visual impairment	3113	HLA-DPA1	ORPHA:900
HP:0000505	Visual impairment	643226	GRXCR2	OMIM:615837
HP:0000505	Visual impairment	4952	OCRL	OMIM:309000
HP:0000505	Visual impairment	84992	PIGY	OMIM:616809
HP:0000505	Visual impairment	23503	ZFYVE26	OMIM:270700
HP:0000505	Visual impairment	4094	MAF	ORPHA:1272
HP:0000505	Visual impairment	2934	GSN	ORPHA:85448
HP:0000505	Visual impairment	5591	PRKDC	OMIM:615966
HP:0000505	Visual impairment	63895	PIEZO2	ORPHA:1154
HP:0000505	Visual impairment	51128	SAR1B	ORPHA:71
HP:0000505	Visual impairment	326	AIRE	ORPHA:3453
HP:0000505	Visual impairment	65217	PCDH15	OMIM:609533
HP:0000505	Visual impairment	760	CA2	OMIM:259730
HP:0000505	Visual impairment	51322	WAC	ORPHA:284169
HP:0000505	Visual impairment	8573	CASK	ORPHA:163937
HP:0000505	Visual impairment	55084	SOBP	OMIM:613671
HP:0000505	Visual impairment	23554	TSPAN12	OMIM:613310
HP:0000505	Visual impairment	283989	TSEN54	OMIM:277470
HP:0000505	Visual impairment	3954	LETM1	OMIM:620089
HP:0000505	Visual impairment	4942	OAT	OMIM:258870
HP:0000505	Visual impairment	117581	TWIST2	ORPHA:920
HP:0000505	Visual impairment	28962	OSTM1	OMIM:259720
HP:0000505	Visual impairment	8943	AP3D1	ORPHA:54
HP:0000505	Visual impairment	8943	AP3D1	ORPHA:1000
HP:0000505	Visual impairment	4935	GPR143	ORPHA:54
HP:0000505	Visual impairment	83959	SLC4A11	ORPHA:1490
HP:0000505	Visual impairment	83959	SLC4A11	OMIM:613268
HP:0000505	Visual impairment	355	FAS	ORPHA:3437
HP:0000505	Visual impairment	80207	OPA3	OMIM:258501
HP:0000505	Visual impairment	80207	OPA3	ORPHA:67036
HP:0000505	Visual impairment	80207	OPA3	ORPHA:67047
HP:0000505	Visual impairment	10019	SH2B3	ORPHA:3318
HP:0000505	Visual impairment	811	CALR	ORPHA:3318
HP:0000505	Visual impairment	4352	MPL	ORPHA:3318
HP:0000505	Visual impairment	3717	JAK2	ORPHA:3318
HP:0000505	Visual impairment	54790	TET2	ORPHA:3318
HP:0000505	Visual impairment	9230	RAB11B	OMIM:617807
HP:0000505	Visual impairment	1545	CYP1B1	ORPHA:98977
HP:0000505	Visual impairment	4653	MYOC	ORPHA:98977
HP:0000505	Visual impairment	84181	CHD6	ORPHA:2108
HP:0000505	Visual impairment	1121	CHM	OMIM:303100
HP:0000505	Visual impairment	1121	CHM	ORPHA:180
HP:0000505	Visual impairment	2335	FN1	ORPHA:93315
HP:0000505	Visual impairment	1280	COL2A1	ORPHA:93315
HP:0000505	Visual impairment	4047	LSS	ORPHA:1366
HP:0000505	Visual impairment	54585	LZTFL1	OMIM:615994
HP:0000505	Visual impairment	23394	ADNP	OMIM:615873
HP:0000505	Visual impairment	406960	MIR184	OMIM:614303
HP:0000505	Visual impairment	23600	AMACR	OMIM:614307
HP:0000505	Visual impairment	22845	DOLK	ORPHA:91131
HP:0000505	Visual impairment	9131	AIFM1	ORPHA:83629
HP:0000505	Visual impairment	10229	COQ7	OMIM:616733
HP:0000505	Visual impairment	5076	PAX2	ORPHA:1475
HP:0000505	Visual impairment	10413	YAP1	ORPHA:1473
HP:0000505	Visual impairment	10320	IKZF1	ORPHA:36426
HP:0000505	Visual impairment	440435	GPR179	OMIM:614565
HP:0000505	Visual impairment	2068	ERCC2	ORPHA:1466
HP:0000505	Visual impairment	2073	ERCC5	ORPHA:1466
HP:0000505	Visual impairment	6659	SOX4	ORPHA:1465
HP:0000505	Visual impairment	5977	DPF2	ORPHA:1465
HP:0000505	Visual impairment	6601	SMARCC2	ORPHA:1465
HP:0000505	Visual impairment	6602	SMARCD1	ORPHA:1465
HP:0000505	Visual impairment	196528	ARID2	ORPHA:1465
HP:0000505	Visual impairment	6605	SMARCE1	ORPHA:1465
HP:0000505	Visual impairment	6664	SOX11	ORPHA:1465
HP:0000505	Visual impairment	4915	NTRK2	OMIM:617830
HP:0000505	Visual impairment	91137	SLC25A46	OMIM:616505
HP:0000505	Visual impairment	80746	TSEN2	OMIM:612389
HP:0000505	Visual impairment	51151	SLC45A2	OMIM:606574
HP:0000505	Visual impairment	79583	TMEM231	ORPHA:2318
HP:0000505	Visual impairment	51524	TMEM138	ORPHA:2318
HP:0000505	Visual impairment	23090	ZNF423	ORPHA:2318
HP:0000505	Visual impairment	65062	TMEM237	ORPHA:2318
HP:0000505	Visual impairment	79042	TSEN34	OMIM:612390
HP:0000505	Visual impairment	128637	TBC1D20	OMIM:615663
HP:0000505	Visual impairment	91147	TMEM67	ORPHA:1454
HP:0000505	Visual impairment	23322	RPGRIP1L	ORPHA:1454
HP:0000505	Visual impairment	114548	NLRP3	ORPHA:1451
HP:0000505	Visual impairment	55644	OSGEP	OMIM:617729
HP:0000505	Visual impairment	57572	DOCK6	OMIM:614219
HP:0000505	Visual impairment	401	PHOX2A	OMIM:602078
HP:0000505	Visual impairment	64840	PORCN	OMIM:305600
HP:0000505	Visual impairment	9997	SCO2	OMIM:604377
HP:0000505	Visual impairment	9842	PLEKHM1	ORPHA:210110
HP:0000505	Visual impairment	112858	TP53RK	OMIM:617730
HP:0000505	Visual impairment	4043	LRPAP1	OMIM:615431
HP:0000505	Visual impairment	51501	HIKESHI	OMIM:616881
HP:0000505	Visual impairment	1213	CLTC	OMIM:617854
HP:0000505	Visual impairment	4659	PPP1R12A	OMIM:618820
HP:0000505	Visual impairment	56270	WDR45B	OMIM:617977
HP:0000505	Visual impairment	80781	COL18A1	OMIM:267750
HP:0000505	Visual impairment	6925	TCF4	OMIM:613267
HP:0000505	Visual impairment	3931	LCAT	ORPHA:79292
HP:0000505	Visual impairment	54676	GTPBP2	OMIM:617988
HP:0000505	Visual impairment	5422	POLA1	OMIM:301220
HP:0000505	Visual impairment	3920	LAMP2	OMIM:300257
HP:0000505	Visual impairment	119559	SFXN4	OMIM:615578
HP:0000505	Visual impairment	2990	GUSB	OMIM:253220
HP:0000505	Visual impairment	8777	MPDZ	OMIM:615219
HP:0000505	Visual impairment	25974	MMACHC	ORPHA:79282
HP:0000505	Visual impairment	25974	MMACHC	OMIM:277400
HP:0000505	Visual impairment	85378	TUBGCP6	ORPHA:2518
HP:0000505	Visual impairment	85378	TUBGCP6	OMIM:251270
HP:0000505	Visual impairment	51294	PCDH12	OMIM:251280
HP:0000505	Visual impairment	5430	POLR2A	OMIM:618603
HP:0000505	Visual impairment	87178	PNPT1	OMIM:608703
HP:0000505	Visual impairment	79587	CARS2	OMIM:616672
HP:0000505	Visual impairment	7543	ZFX	OMIM:301118
HP:0000505	Visual impairment	22861	NLRP1	OMIM:615225
HP:0000505	Visual impairment	64221	ROBO3	ORPHA:2744
HP:0000505	Visual impairment	6736	SRY	ORPHA:1772
HP:0000505	Visual impairment	406932	MIR140	OMIM:618618
HP:0000505	Visual impairment	55753	OGDHL	OMIM:619701
HP:0000505	Visual impairment	5052	PRDX1	OMIM:277400
HP:0000505	Visual impairment	3735	KARS1	OMIM:619196
HP:0000505	Visual impairment	6247	RS1	ORPHA:792
HP:0000505	Visual impairment	6247	RS1	OMIM:312700
HP:0000505	Visual impairment	5393	EXOSC9	ORPHA:2254
HP:0000505	Visual impairment	23287	AGTPBP1	ORPHA:2254
HP:0000505	Visual impairment	51010	EXOSC3	ORPHA:2254
HP:0000505	Visual impairment	7443	VRK1	ORPHA:2254
HP:0000505	Visual impairment	4720	NDUFS2	ORPHA:104
HP:0000505	Visual impairment	4720	NDUFS2	OMIM:620569
HP:0000505	Visual impairment	54982	CLN6	OMIM:601780
HP:0000505	Visual impairment	10908	PNPLA6	OMIM:215470
HP:0000505	Visual impairment	4036	LRP2	OMIM:222448
HP:0000505	Visual impairment	4036	LRP2	ORPHA:2143
HP:0000505	Visual impairment	5959	RDH5	ORPHA:52427
HP:0000505	Visual impairment	4221	MEN1	ORPHA:2965
HP:0000505	Visual impairment	3145	HMBS	OMIM:620711
HP:0000505	Visual impairment	1200	TPP1	OMIM:204500
HP:0000505	Visual impairment	348	APOE	OMIM:603075
HP:0000505	Visual impairment	10878	CFHR3	OMIM:603075
HP:0000505	Visual impairment	83872	HMCN1	OMIM:603075
HP:0000505	Visual impairment	3078	CFHR1	OMIM:603075
HP:0000505	Visual impairment	5538	PPT1	OMIM:256730
HP:0000505	Visual impairment	1203	CLN5	OMIM:256731
HP:0000505	Visual impairment	8792	TNFRSF11A	OMIM:612301
HP:0000505	Visual impairment	1634	DCN	OMIM:610048
HP:0000505	Visual impairment	4547	MTTP	ORPHA:14
HP:0000505	Visual impairment	83636	C19orf12	OMIM:614298
HP:0000505	Visual impairment	51109	RDH11	ORPHA:436245
HP:0000505	Visual impairment	4763	NF1	ORPHA:97685
HP:0000505	Visual impairment	50964	SOST	OMIM:269500
HP:0000505	Visual impairment	4558	MT-TF	ORPHA:550
HP:0000505	Visual impairment	4572	MT-TQ	ORPHA:550
HP:0000505	Visual impairment	4512	MT-CO1	ORPHA:550
HP:0000505	Visual impairment	4513	MT-CO2	ORPHA:550
HP:0000505	Visual impairment	4514	MT-CO3	ORPHA:550
HP:0000505	Visual impairment	4514	MT-CO3	OMIM:535000
HP:0000505	Visual impairment	4578	MT-TW	ORPHA:550
HP:0000505	Visual impairment	4540	MT-ND5	ORPHA:550
HP:0000505	Visual impairment	4540	MT-ND5	OMIM:535000
HP:0000505	Visual impairment	4541	MT-ND6	ORPHA:550
HP:0000505	Visual impairment	4541	MT-ND6	OMIM:535000
HP:0000505	Visual impairment	4535	MT-ND1	ORPHA:550
HP:0000505	Visual impairment	4535	MT-ND1	OMIM:535000
HP:0000505	Visual impairment	4538	MT-ND4	ORPHA:550
HP:0000505	Visual impairment	4538	MT-ND4	OMIM:535000
HP:0000505	Visual impairment	4567	MT-TL1	ORPHA:550
HP:0000505	Visual impairment	4574	MT-TS1	ORPHA:550
HP:0000505	Visual impairment	4575	MT-TS2	ORPHA:550
HP:0000505	Visual impairment	4575	MT-TS2	ORPHA:231183
HP:0000505	Visual impairment	4564	MT-TH	ORPHA:550
HP:0000505	Visual impairment	26277	TINF2	OMIM:268130
HP:0000505	Visual impairment	6775	STAT4	ORPHA:85410
HP:0000505	Visual impairment	3560	IL2RB	ORPHA:85410
HP:0000505	Visual impairment	79722	ANKRD55	ORPHA:85410
HP:0000505	Visual impairment	919	CD247	ORPHA:85410
HP:0000505	Visual impairment	3559	IL2RA	ORPHA:85410
HP:0000505	Visual impairment	5771	PTPN2	ORPHA:85410
HP:0000505	Visual impairment	84627	ZNF469	OMIM:229200
HP:0000505	Visual impairment	84627	ZNF469	ORPHA:90354
HP:0000505	Visual impairment	22947	DUX4L1	ORPHA:269
HP:0000505	Visual impairment	1789	DNMT3B	ORPHA:269
HP:0000505	Visual impairment	2483	FRG1	ORPHA:269
HP:0000505	Visual impairment	23347	SMCHD1	ORPHA:269
HP:0000505	Visual impairment	23347	SMCHD1	ORPHA:2250
HP:0000505	Visual impairment	100288687	DUX4	ORPHA:269
HP:0000505	Visual impairment	79581	SLC52A2	OMIM:614707
HP:0000505	Visual impairment	79848	CSPP1	ORPHA:397715
HP:0000505	Visual impairment	9786	KIAA0586	ORPHA:397715
HP:0000505	Visual impairment	4312	MMP1	ORPHA:79408
HP:0000505	Visual impairment	1294	COL7A1	ORPHA:79408
HP:0000505	Visual impairment	1294	COL7A1	ORPHA:89842
HP:0000505	Visual impairment	114902	C1QTNF5	ORPHA:67042
HP:0000505	Visual impairment	114902	C1QTNF5	OMIM:605670
HP:0000505	Visual impairment	79644	SRD5A3	OMIM:612379
HP:0000505	Visual impairment	79644	SRD5A3	ORPHA:324737
HP:0000505	Visual impairment	153241	CEP120	ORPHA:220493
HP:0000505	Visual impairment	54903	MKS1	ORPHA:220493
HP:0000505	Visual impairment	95681	CEP41	ORPHA:220493
HP:0000505	Visual impairment	10560	SLC19A2	ORPHA:49827
HP:0000505	Visual impairment	10560	SLC19A2	OMIM:249270
HP:0000505	Visual impairment	154881	KCTD7	OMIM:611726
HP:0000505	Visual impairment	8869	ST3GAL5	OMIM:609056
HP:0000505	Visual impairment	1340	COX6B1	OMIM:619051
HP:0000505	Visual impairment	3105	HLA-A	ORPHA:179
HP:0000505	Visual impairment	27235	COQ2	OMIM:607426
HP:0000505	Visual impairment	28982	FLVCR1	ORPHA:88628
HP:0000505	Visual impairment	7345	UCHL1	OMIM:615491
HP:0000505	Visual impairment	9512	PMPCB	OMIM:617954
HP:0000505	Visual impairment	10381	TUBB3	ORPHA:300570
HP:0000505	Visual impairment	2058	EPRS1	OMIM:617951
HP:0000505	Visual impairment	10342	TFG	OMIM:615658
HP:0000505	Visual impairment	9326	ZNHIT3	ORPHA:2836
HP:0000505	Visual impairment	686	BTD	OMIM:253260
HP:0000505	Visual impairment	1509	CTSD	OMIM:610127
HP:0000505	Visual impairment	4647	MYO7A	OMIM:276900
HP:0000505	Visual impairment	4647	MYO7A	ORPHA:231178
HP:0000505	Visual impairment	4647	MYO7A	ORPHA:231169
HP:0000505	Visual impairment	10083	USH1C	OMIM:276900
HP:0000505	Visual impairment	10083	USH1C	ORPHA:231169
HP:0000505	Visual impairment	54539	NDUFB11	ORPHA:2556
HP:0000505	Visual impairment	3052	HCCS	ORPHA:2556
HP:0000505	Visual impairment	6898	TAT	ORPHA:28378
HP:0000505	Visual impairment	2778	GNAS	ORPHA:562
HP:0000505	Visual impairment	1282	COL4A1	OMIM:180000
HP:0000505	Visual impairment	215	ABCD1	OMIM:300100
HP:0000505	Visual impairment	5062	PAK2	ORPHA:1571
HP:0000505	Visual impairment	80216	ALPK1	OMIM:614979
HP:0000505	Visual impairment	4854	NOTCH3	OMIM:125310
HP:0000505	Visual impairment	79736	TEFM	OMIM:620451
HP:0000505	Visual impairment	4771	NF2	OMIM:101000
HP:0000505	Visual impairment	4771	NF2	ORPHA:637
HP:0000505	Visual impairment	3028	HSD17B10	ORPHA:391428
HP:0000505	Visual impairment	3028	HSD17B10	OMIM:300438
HP:0000505	Visual impairment	3075	CFH	ORPHA:75376
HP:0000505	Visual impairment	3426	CFI	ORPHA:75376
HP:0000505	Visual impairment	10804	GJB6	ORPHA:477
HP:0000505	Visual impairment	2706	GJB2	ORPHA:477
HP:0000505	Visual impairment	25861	WHRN	ORPHA:231178
HP:0000505	Visual impairment	84059	ADGRV1	ORPHA:231178
HP:0000505	Visual impairment	2296	FOXC1	ORPHA:250923
HP:0000505	Visual impairment	54765	TRIM44	ORPHA:250923
HP:0000505	Visual impairment	6711	SPTBN1	OMIM:619475
HP:0000505	Visual impairment	8314	BAP1	ORPHA:39044
HP:0000505	Visual impairment	57105	CYSLTR2	ORPHA:39044
HP:0000505	Visual impairment	2776	GNAQ	ORPHA:39044
HP:0000505	Visual impairment	2776	GNAQ	ORPHA:3205
HP:0000505	Visual impairment	2767	GNA11	ORPHA:39044
HP:0000505	Visual impairment	23451	SF3B1	ORPHA:39044
HP:0000505	Visual impairment	10319	LAMC3	OMIM:614115
HP:0000505	Visual impairment	3832	KIF11	ORPHA:2526
HP:0000505	Visual impairment	7078	TIMP3	ORPHA:59181
HP:0000505	Visual impairment	22901	ARSG	ORPHA:231183
HP:0000505	Visual impairment	11107	PRDM5	ORPHA:90354
HP:0000505	Visual impairment	7428	VHL	ORPHA:892
HP:0000505	Visual impairment	595	CCND1	ORPHA:892
HP:0000505	Visual impairment	5230	PGK1	OMIM:300653
HP:0000505	Visual impairment	170691	ADAMTS17	ORPHA:3449
HP:0000505	Visual impairment	4053	LTBP2	ORPHA:3449
HP:0000505	Visual impairment	4053	LTBP2	ORPHA:98976
HP:0000505	Visual impairment	81794	ADAMTS10	ORPHA:3449
HP:0000505	Visual impairment	3295	HSD17B4	OMIM:261515
HP:0000505	Visual impairment	63916	ELMO2	OMIM:606893
HP:0000505	Visual impairment	2624	GATA2	ORPHA:228423
HP:0000505	Visual impairment	5660	PSAP	ORPHA:206436
HP:0000505	Visual impairment	64127	NOD2	ORPHA:90340
HP:0000505	Visual impairment	6314	ATXN7	ORPHA:94147
HP:0000505	Visual impairment	3030	HADHA	ORPHA:5
HP:0000505	Visual impairment	64072	CDH23	ORPHA:231169
HP:0000505	Visual impairment	124590	USH1G	ORPHA:231169
HP:0000505	Visual impairment	83715	ESPN	ORPHA:231169
HP:0000505	Visual impairment	10518	CIB2	ORPHA:231169
HP:0000505	Visual impairment	8398	PLA2G6	OMIM:256600
HP:0000505	Visual impairment	7957	EPM2A	OMIM:254780
HP:0000505	Visual impairment	7010	TEK	ORPHA:98976
HP:0000505	Visual impairment	1462	VCAN	OMIM:143200
HP:0000505	Visual impairment	4536	MT-ND2	OMIM:535000
HP:0000505	Visual impairment	4519	MT-CYB	OMIM:535000
HP:0000505	Visual impairment	4508	MT-ATP6	OMIM:535000
HP:0000505	Visual impairment	4539	MT-ND4L	OMIM:535000
HP:0000505	Visual impairment	6935	ZEB1	ORPHA:98974
HP:0000505	Visual impairment	123624	AGBL1	ORPHA:98974
HP:0000505	Visual impairment	1296	COL8A2	ORPHA:98974
HP:0000505	Visual impairment	773	CACNA1A	ORPHA:569
HP:0000505	Visual impairment	112476	PRRT2	ORPHA:569
HP:0000505	Visual impairment	477	ATP1A2	ORPHA:569
HP:0000505	Visual impairment	25915	NDUFAF3	ORPHA:2609
HP:0000505	Visual impairment	91942	NDUFAF2	ORPHA:2609
HP:0000505	Visual impairment	51300	TIMMDC1	ORPHA:2609
HP:0000505	Visual impairment	4716	NDUFB10	ORPHA:2609
HP:0000505	Visual impairment	4723	NDUFV1	ORPHA:2609
HP:0000505	Visual impairment	4723	NDUFV1	OMIM:618225
HP:0000505	Visual impairment	284184	NDUFAF8	ORPHA:2609
HP:0000505	Visual impairment	55863	TMEM126B	ORPHA:2609
HP:0000505	Visual impairment	4537	MT-ND3	ORPHA:2609
HP:0000505	Visual impairment	4729	NDUFV2	ORPHA:2609
HP:0000505	Visual impairment	4694	NDUFA1	ORPHA:2609
HP:0000505	Visual impairment	4724	NDUFS4	ORPHA:2609
HP:0000505	Visual impairment	4724	NDUFS4	OMIM:252010
HP:0000505	Visual impairment	4726	NDUFS6	ORPHA:2609
HP:0000505	Visual impairment	4728	NDUFS8	ORPHA:2609
HP:0000505	Visual impairment	4722	NDUFS3	ORPHA:2609
HP:0000505	Visual impairment	79133	NDUFAF5	ORPHA:2609
HP:0000505	Visual impairment	126328	NDUFA11	ORPHA:2609
HP:0000505	Visual impairment	4709	NDUFB3	ORPHA:2609
HP:0000505	Visual impairment	80224	NUBPL	ORPHA:2609
HP:0000505	Visual impairment	29078	NDUFAF4	ORPHA:2609
HP:0000505	Visual impairment	374291	NDUFS7	ORPHA:2609
HP:0000505	Visual impairment	4700	NDUFA6	ORPHA:2609
HP:0000505	Visual impairment	4719	NDUFS1	ORPHA:2609
HP:0000505	Visual impairment	4715	NDUFB9	ORPHA:2609
HP:0000505	Visual impairment	341640	FREM2	ORPHA:2052
HP:0000505	Visual impairment	80144	FRAS1	ORPHA:2052
HP:0000505	Visual impairment	80144	FRAS1	OMIM:219000
HP:0000505	Visual impairment	23426	GRIP1	ORPHA:2052
HP:0000505	Visual impairment	5351	PLOD1	OMIM:225400
HP:0000505	Visual impairment	51569	UFM1	OMIM:617899
HP:0000505	Visual impairment	54820	NDE1	ORPHA:2177
HP:0000505	Visual impairment	5309	PITX3	OMIM:610623
HP:0000505	Visual impairment	3073	HEXA	OMIM:272800
HP:0000505	Visual impairment	6720	SREBF1	OMIM:158310
HP:0000505	Visual impairment	3074	HEXB	OMIM:268800
HP:0000505	Visual impairment	2720	GLB1	ORPHA:79255
HP:0000505	Visual impairment	4509	MT-ATP8	ORPHA:254913
HP:0000505	Visual impairment	514	ATP5F1E	ORPHA:254913
HP:0000505	Visual impairment	513	ATP5F1D	ORPHA:254913
HP:0000505	Visual impairment	498	ATP5F1A	ORPHA:254913
HP:0000505	Visual impairment	84833	ATP5MK	ORPHA:254913
HP:0000505	Visual impairment	91647	ATPAF2	ORPHA:254913
HP:0000505	Visual impairment	9361	LONP1	ORPHA:79243
HP:0000505	Visual impairment	5160	PDHA1	ORPHA:79243
HP:0000505	Visual impairment	7389	UROD	ORPHA:95159
HP:0000505	Visual impairment	60	ACTB	ORPHA:79107
HP:0000505	Visual impairment	27316	RBMX	OMIM:309555
HP:0000505	Visual impairment	26834	RNU4-2	OMIM:620851
HP:0000505	Visual impairment	4548	MTR	OMIM:250940
HP:0000505	Visual impairment	56244	BTNL2	ORPHA:797
HP:0000505	Visual impairment	3257	HPS1	OMIM:203300
HP:0000505	Visual impairment	5155	PDGFB	ORPHA:2495
HP:0000505	Visual impairment	6608	SMO	ORPHA:2495
HP:0000505	Visual impairment	207	AKT1	ORPHA:2495
HP:0000505	Visual impairment	7015	TERT	ORPHA:2495
HP:0000505	Visual impairment	51684	SUFU	ORPHA:2495
HP:0000505	Visual impairment	726	CAPN5	OMIM:193235
HP:0000505	Visual impairment	11041	B4GAT1	OMIM:615287
HP:0000505	Visual impairment	5627	PROS1	OMIM:614514
HP:0000505	Visual impairment	5340	PLG	OMIM:217090
HP:0000505	Visual impairment	2811	GP1BA	ORPHA:853
HP:0000505	Visual impairment	2812	GP1BB	ORPHA:853
HP:0000505	Visual impairment	3674	ITGA2B	ORPHA:853
HP:0000505	Visual impairment	3673	ITGA2	ORPHA:853
HP:0000505	Visual impairment	135228	CD109	ORPHA:853
HP:0000505	Visual impairment	3690	ITGB3	ORPHA:853
HP:0000505	Visual impairment	5296	PIK3R2	OMIM:603387
HP:0000505	Visual impairment	10084	PQBP1	OMIM:309500
HP:0000505	Visual impairment	80025	PANK2	ORPHA:216873
HP:0000505	Visual impairment	80025	PANK2	ORPHA:216866
HP:0000505	Visual impairment	9928	KIF14	OMIM:617914
HP:0000505	Visual impairment	1967	EIF2B1	OMIM:603896
HP:0000505	Visual impairment	1387	CREBBP	OMIM:618332
HP:0000505	Visual impairment	57647	DHX37	OMIM:618731
HP:0000505	Visual impairment	80169	CTC1	OMIM:612199
HP:0000505	Visual impairment	7390	UROS	ORPHA:79277
HP:0000505	Visual impairment	2623	GATA1	ORPHA:79277
HP:0000505	Visual impairment	2760	GM2A	OMIM:272750
HP:0000505	Visual impairment	149233	IL23R	ORPHA:117
HP:0000505	Visual impairment	3586	IL10	ORPHA:117
HP:0000505	Visual impairment	4210	MEFV	ORPHA:117
HP:0000505	Visual impairment	1230	CCR1	ORPHA:117
HP:0000505	Visual impairment	3592	IL12A	ORPHA:117
HP:0000505	Visual impairment	101928376	IL12A-AS1	ORPHA:117
HP:0000505	Visual impairment	7099	TLR4	ORPHA:117
HP:0000505	Visual impairment	3459	IFNGR1	ORPHA:117
HP:0000505	Visual impairment	720	C4A	ORPHA:117
HP:0000505	Visual impairment	337867	UBAC2	ORPHA:117
HP:0000505	Visual impairment	51752	ERAP1	ORPHA:117
HP:0000505	Visual impairment	8302	KLRC4	ORPHA:117
HP:0000505	Visual impairment	7291	TWIST1	ORPHA:794
HP:0000505	Visual impairment	6095	RORA	OMIM:618060
HP:0000505	Visual impairment	9759	HDAC4	OMIM:619797
HP:0000505	Visual impairment	8473	OGT	OMIM:300997
HP:0000505	Visual impairment	6334	SCN8A	OMIM:614306
HP:0000505	Visual impairment	22800	RRAS2	OMIM:618624
HP:0000505	Visual impairment	3008	H1-4	OMIM:617537
HP:0000505	Visual impairment	10992	SF3B2	OMIM:164210
HP:0000505	Visual impairment	118987	PDZD8	OMIM:620021
HP:0000505	Visual impairment	27125	AFF4	ORPHA:444077
HP:0000505	Visual impairment	4784	NFIX	ORPHA:447980
HP:0000505	Visual impairment	80232	WDR26	ORPHA:513456
HP:0000505	Visual impairment	80232	WDR26	OMIM:617616
HP:0000505	Visual impairment	9578	CDC42BPB	OMIM:619841
HP:0000505	Visual impairment	26610	ELP4	OMIM:617141
HP:0000505	Visual impairment	51506	UFC1	OMIM:618076
HP:0000505	Visual impairment	9968	MED12	ORPHA:2728
HP:0000505	Visual impairment	3781	KCNN2	OMIM:619724
HP:0000505	Visual impairment	23431	AP4E1	OMIM:613744
HP:0000505	Visual impairment	23431	AP4E1	ORPHA:280763
HP:0000505	Visual impairment	57589	RIC1	OMIM:618761
HP:0000505	Visual impairment	92255	LMBRD2	OMIM:619694
HP:0000505	Visual impairment	10352	WARS2	OMIM:617710
HP:0000505	Visual impairment	10352	WARS2	ORPHA:572798
HP:0000505	Visual impairment	81857	MED25	ORPHA:464738
HP:0000505	Visual impairment	708	C1QBP	OMIM:617713
HP:0000505	Visual impairment	2077	ERF	ORPHA:207
HP:0000505	Visual impairment	646960	PRSS56	OMIM:613517
HP:0000505	Visual impairment	9241	NOG	OMIM:186500
HP:0000505	Visual impairment	6899	TBX1	OMIM:188400
HP:0000505	Visual impairment	164	AP1G1	OMIM:619467
HP:0000505	Visual impairment	57178	ZMIZ1	OMIM:618659
HP:0000505	Visual impairment	9935	MAFB	ORPHA:233
HP:0000505	Visual impairment	1123	CHN1	ORPHA:233
HP:0000505	Visual impairment	1123	CHN1	OMIM:604356
HP:0000505	Visual impairment	3982	LIM2	OMIM:615277
HP:0000505	Visual impairment	10367	MICU1	OMIM:615673
HP:0000505	Visual impairment	8364	H4C3	OMIM:619758
HP:0000505	Visual impairment	8085	KMT2D	OMIM:620186
HP:0000505	Visual impairment	1859	DYRK1A	ORPHA:464311
HP:0000505	Visual impairment	23556	PIGN	ORPHA:280633
HP:0000505	Visual impairment	23556	PIGN	OMIM:614080
HP:0000505	Visual impairment	55617	TASP1	OMIM:618950
HP:0000505	Visual impairment	7204	TRIO	ORPHA:476126
HP:0000505	Visual impairment	284217	LAMA1	OMIM:615960
HP:0000505	Visual impairment	284217	LAMA1	ORPHA:370022
HP:0000505	Visual impairment	51085	MLXIPL	OMIM:194050
HP:0000505	Visual impairment	668	FOXL2	ORPHA:572333
HP:0000505	Visual impairment	10717	AP4B1	ORPHA:280763
HP:0000505	Visual impairment	9179	AP4M1	ORPHA:280763
HP:0000505	Visual impairment	11154	AP4S1	ORPHA:280763
HP:0000505	Visual impairment	5308	PITX2	OMIM:180550
HP:0000505	Visual impairment	7030	TFE3	OMIM:301066
HP:0000505	Visual impairment	57479	PRR12	OMIM:619539
HP:0000505	Visual impairment	2316	FLNA	ORPHA:1826
HP:0000505	Visual impairment	6885	MAP3K7	ORPHA:1826
HP:0000505	Visual impairment	9469	CHST3	OMIM:245600
HP:0000505	Visual impairment	26229	B3GAT3	OMIM:245600
HP:0000505	Visual impairment	1804	DPP6	OMIM:616311
HP:0000505	Visual impairment	9181	ARHGEF2	OMIM:617523
HP:0000505	Visual impairment	1297	COL9A1	ORPHA:250984
HP:0000505	Visual impairment	1298	COL9A2	ORPHA:250984
HP:0000505	Visual impairment	1299	COL9A3	ORPHA:250984
HP:0000505	Visual impairment	90952	ESAM	OMIM:620371
HP:0000505	Visual impairment	7066	THPO	ORPHA:71493
HP:0000505	Visual impairment	7025	NR2F1	ORPHA:401777
HP:0000505	Visual impairment	7025	NR2F1	OMIM:615722
HP:0000505	Visual impairment	51816	ADA2	ORPHA:820
HP:0000505	Visual impairment	10283	CWC27	ORPHA:166035
HP:0000505	Visual impairment	4488	MSX2	OMIM:604757
HP:0000505	Visual impairment	84196	USP48	ORPHA:96253
HP:0000505	Visual impairment	9101	USP8	ORPHA:96253
HP:0000505	Visual impairment	2908	NR3C1	ORPHA:96253
HP:0000505	Visual impairment	673	BRAF	ORPHA:96253
HP:0000505	Visual impairment	546	ATRX	ORPHA:96253
HP:0000505	Visual impairment	1181	CLCN2	OMIM:615651
HP:0000505	Visual impairment	83550	GPR101	ORPHA:963
HP:0000505	Visual impairment	9049	AIP	ORPHA:963
HP:0000505	Visual impairment	79152	FA2H	ORPHA:329308
HP:0000505	Visual impairment	4327	MMP19	OMIM:611543
HP:0000505	Visual impairment	55901	THSD1	ORPHA:231160
HP:0000505	Visual impairment	7049	TGFBR3	ORPHA:231160
HP:0000505	Visual impairment	1281	COL3A1	ORPHA:231160
HP:0000505	Visual impairment	83854	ANGPTL6	ORPHA:231160
HP:0000505	Visual impairment	2022	ENG	ORPHA:231160
HP:0000505	Visual impairment	9371	KIF3B	OMIM:618955
HP:0000505	Visual impairment	8565	YARS1	OMIM:619418
HP:0000505	Visual impairment	8216	LZTR1	OMIM:605275
HP:0000505	Visual impairment	343035	RD3	ORPHA:65
HP:0000505	Visual impairment	4166	CHST6	ORPHA:98969
HP:0000505	Visual impairment	10195	ALG3	OMIM:601110
HP:0000505	Visual impairment	6809	STX3	OMIM:619446
HP:0000505	Visual impairment	10749	KIF1C	ORPHA:397946
HP:0000505	Visual impairment	10749	KIF1C	OMIM:611302
HP:0000505	Visual impairment	85465	SELENOI	ORPHA:506353
HP:0000505	Visual impairment	85465	SELENOI	OMIM:618768
HP:0000505	Visual impairment	26235	FBXL4	OMIM:615471
HP:0000505	Visual impairment	4099	MAG	OMIM:616680
HP:0000505	Visual impairment	8294	H4C9	OMIM:619951
HP:0000505	Visual impairment	1763	DNA2	OMIM:620819
HP:0000505	Visual impairment	55823	VPS11	OMIM:616683
HP:0000505	Visual impairment	123263	MTFMT	OMIM:614947
HP:0000505	Visual impairment	146167	SLC38A8	OMIM:609218
HP:0000505	Visual impairment	8566	PDXK	OMIM:618511
HP:0000505	Visual impairment	1638	DCT	OMIM:619165
HP:0000505	Visual impairment	169522	KCNV2	OMIM:610356
HP:0000505	Visual impairment	63915	BLOC1S5	OMIM:619172
HP:0000505	Visual impairment	410	ARSA	ORPHA:309271
HP:0000505	Visual impairment	410	ARSA	ORPHA:309263
HP:0000505	Visual impairment	410	ARSA	ORPHA:309256
HP:0000505	Visual impairment	1738	DLD	ORPHA:2394
HP:0000505	Visual impairment	64834	ELOVL1	OMIM:618527
HP:0000505	Visual impairment	54543	TOMM7	OMIM:620601
HP:0000505	Visual impairment	7123	CLEC3B	OMIM:619977
HP:0000505	Visual impairment	79140	CCDC28B	OMIM:209900
HP:0000505	Visual impairment	54675	CRLS1	OMIM:620167
HP:0000505	Visual impairment	8546	AP3B1	OMIM:608233
HP:0000505	Visual impairment	90167	FRMD7	OMIM:310700
HP:0000505	Visual impairment	1130	LYST	ORPHA:167
HP:0000505	Visual impairment	1130	LYST	OMIM:214500
HP:0000505	Visual impairment	5833	PCYT2	OMIM:618770
HP:0000505	Visual impairment	7466	WFS1	OMIM:614296
HP:0000505	Visual impairment	246243	RNASEH1	OMIM:616479
HP:0000505	Visual impairment	1201	CLN3	OMIM:204200
HP:0000505	Visual impairment	2301	FOXE3	OMIM:610256
HP:0000505	Visual impairment	7855	FZD5	OMIM:620731
HP:0000505	Visual impairment	23268	DNMBP	OMIM:618415
HP:0000505	Visual impairment	2201	FBN2	OMIM:616118
HP:0000505	Visual impairment	11081	KERA	OMIM:217300
HP:0000505	Visual impairment	92482	BBIP1	ORPHA:110
HP:0000505	Visual impairment	11020	IFT27	ORPHA:110
HP:0000505	Visual impairment	51057	WDPCP	ORPHA:110
HP:0000505	Visual impairment	132320	SCLT1	ORPHA:110
HP:0000505	Visual impairment	27241	BBS9	ORPHA:110
HP:0000505	Visual impairment	84984	CEP19	ORPHA:110
HP:0000505	Visual impairment	22954	TRIM32	ORPHA:110
HP:0000505	Visual impairment	79738	BBS10	ORPHA:110
HP:0000505	Visual impairment	585	BBS4	ORPHA:110
HP:0000505	Visual impairment	8195	MKKS	ORPHA:110
HP:0000505	Visual impairment	55212	BBS7	ORPHA:110
HP:0000505	Visual impairment	166379	BBS12	ORPHA:110
HP:0000505	Visual impairment	129880	BBS5	ORPHA:110
HP:0000505	Visual impairment	129880	BBS5	OMIM:615983
HP:0000505	Visual impairment	5149	PDE6H	OMIM:610024
HP:0000505	Visual impairment	5149	PDE6H	ORPHA:49382
HP:0000505	Visual impairment	402	ARL2	OMIM:619082
HP:0000505	Visual impairment	89781	HPS4	OMIM:614073
HP:0000505	Visual impairment	30813	VSX1	OMIM:614195
HP:0000505	Visual impairment	30813	VSX1	ORPHA:98973
HP:0000505	Visual impairment	11234	HPS5	OMIM:614074
HP:0000505	Visual impairment	3098	HK1	OMIM:617460
HP:0000505	Visual impairment	388552	BLOC1S3	OMIM:614077
HP:0000505	Visual impairment	3913	LAMB2	OMIM:614199
HP:0000505	Visual impairment	79803	HPS6	OMIM:614075
HP:0000505	Visual impairment	3859	KRT12	OMIM:122100
HP:0000505	Visual impairment	11261	CHP1	OMIM:618438
HP:0000505	Visual impairment	6742	SSBP1	OMIM:165510
HP:0000505	Visual impairment	4308	TRPM1	ORPHA:215
HP:0000505	Visual impairment	4308	TRPM1	OMIM:613216
HP:0000505	Visual impairment	345193	LRIT3	ORPHA:215
HP:0000505	Visual impairment	345193	LRIT3	OMIM:615058
HP:0000505	Visual impairment	2916	GRM6	ORPHA:215
HP:0000505	Visual impairment	9187	SLC24A1	ORPHA:215
HP:0000505	Visual impairment	2784	GNB3	ORPHA:215
HP:0000505	Visual impairment	60506	NYX	ORPHA:215
HP:0000505	Visual impairment	7837	PXDN	OMIM:269400
HP:0000505	Visual impairment	7867	MAPKAPK3	OMIM:617111
HP:0000505	Visual impairment	11152	WDR45	OMIM:615179
HP:0000505	Visual impairment	83938	LRMDA	OMIM:615179
HP:0000505	Visual impairment	6390	SDHB	ORPHA:3208
HP:0000505	Visual impairment	644096	SDHAF1	ORPHA:3208
HP:0000505	Visual impairment	26022	TMEM98	OMIM:615972
HP:0000505	Visual impairment	344658	SAMD7	OMIM:620762
HP:0000505	Visual impairment	113457	TUBA3D	OMIM:617928
HP:0000505	Visual impairment	8905	AP1S2	OMIM:304340
HP:0000505	Visual impairment	58495	OVOL2	ORPHA:98973
HP:0000505	Visual impairment	79977	GRHL2	ORPHA:98973
HP:0000505	Visual impairment	79977	GRHL2	OMIM:618031
HP:0000505	Visual impairment	8322	FZD4	OMIM:133780
HP:0000505	Visual impairment	8322	FZD4	ORPHA:90050
HP:0000505	Visual impairment	8322	FZD4	ORPHA:91495
HP:0000505	Visual impairment	8322	FZD4	ORPHA:891
HP:0000505	Visual impairment	4693	NDP	ORPHA:90050
HP:0000505	Visual impairment	4693	NDP	ORPHA:91495
HP:0000505	Visual impairment	4693	NDP	ORPHA:891
HP:0000505	Visual impairment	4693	NDP	OMIM:305390
HP:0000505	Visual impairment	406987	MIR204	OMIM:616722
HP:0000505	Visual impairment	23078	VWA8	OMIM:620422
HP:0000505	Visual impairment	220202	ATOH7	ORPHA:91495
HP:0000505	Visual impairment	6507	SLC1A3	ORPHA:209967
HP:0000505	Visual impairment	83552	MFRP	OMIM:611040
HP:0000505	Visual impairment	84816	RTN4IP1	OMIM:616732
HP:0000505	Visual impairment	11190	CEP250	OMIM:618358
HP:0000505	Visual impairment	54471	MIEF1	OMIM:620550
HP:0000505	Visual impairment	611	OPN1SW	ORPHA:88629
HP:0000505	Visual impairment	267010	RNU12	OMIM:620208
HP:0000505	Visual impairment	91851	CHRDL1	OMIM:309300
HP:0000505	Visual impairment	1001	CDH3	OMIM:601553
HP:0000505	Visual impairment	22827	PUF60	ORPHA:508488
HP:0000505	Visual impairment	201973	PRIMPOL	OMIM:615420
HP:0000505	Visual impairment	9445	ITM2B	OMIM:616079
HP:0000505	Visual impairment	6297	SALL2	OMIM:216820
HP:0000505	Visual impairment	57498	KIDINS220	OMIM:617296
HP:0000505	Visual impairment	55213	RCBTB1	OMIM:617175
HP:0000505	Visual impairment	55229	PANK4	OMIM:619593
HP:0000505	Visual impairment	998	CDC42	ORPHA:487796
HP:0000505	Visual impairment	8936	WASF1	OMIM:618707
HP:0000505	Visual impairment	1495	CTNNA1	OMIM:608970
HP:0000505	Visual impairment	27349	MCAT	OMIM:620583
HP:0000505	Visual impairment	10682	EBP	OMIM:300960
HP:0000505	Visual impairment	116461	TSEN15	ORPHA:2524
HP:0000505	Visual impairment	51091	SEPSECS	ORPHA:2524
HP:0000505	Visual impairment	80210	ARMC9	OMIM:617622
HP:0000505	Visual impairment	23516	SLC39A14	OMIM:144755
HP:0000505	Visual impairment	5456	POU3F4	ORPHA:1435
HP:0000505	Visual impairment	4140	MARK3	OMIM:618283
HP:0000505	Visual impairment	1499	CTNNB1	ORPHA:891
HP:0000505	Visual impairment	112752	IFT43	OMIM:617871
HP:0000505	Visual impairment	387	RHOA	OMIM:618727
HP:0000505	Visual impairment	51594	NBAS	OMIM:614800
HP:0000505	Visual impairment	10383	TUBB4B	OMIM:617879
HP:0000505	Visual impairment	6522	SLC4A2	OMIM:620366
HP:0000505	Visual impairment	57410	SCYL1	ORPHA:466794
HP:0000505	Visual impairment	224	ALDH3A2	OMIM:270200
HP:0000505	Visual impairment	23155	CLCC1	OMIM:609913
HP:0000505	Visual impairment	9699	RIMS2	OMIM:618970
HP:0000505	Visual impairment	23102	TBC1D2B	ORPHA:397973
HP:0000505	Visual impairment	10939	AFG3L2	OMIM:618977
HP:0000505	Visual impairment	1414	CRYBB1	OMIM:611544
HP:0000505	Visual impairment	5297	PI4KA	OMIM:619708
HP:0000505	Visual impairment	136371	ASB10	OMIM:603383
HP:0000505	Visual impairment	471	ATIC	ORPHA:250977
HP:0000505	Visual impairment	471	ATIC	OMIM:608688
HP:0000505	Visual impairment	1757	SARDH	ORPHA:3129
HP:0000505	Visual impairment	286053	NSMCE2	ORPHA:436182
HP:0000505	Visual impairment	7518	XRCC4	ORPHA:436182
HP:0000505	Visual impairment	9927	MFN2	OMIM:601152
HP:0000505	Visual impairment	6533	SLC6A6	OMIM:145350
HP:0000505	Visual impairment	1737	DLAT	ORPHA:79244
HP:0000505	Visual impairment	79628	SH3TC2	ORPHA:99949
HP:0000505	Visual impairment	347733	TUBB2B	ORPHA:300573
HP:0000505	Visual impairment	16	AARS1	OMIM:619661
HP:0000505	Visual impairment	9692	PRORP	OMIM:619737
HP:0000505	Visual impairment	8891	EIF2B3	OMIM:620313
HP:0000505	Visual impairment	2475	MTOR	ORPHA:99802
HP:0000505	Visual impairment	10000	AKT3	ORPHA:99802
HP:0000505	Visual impairment	55209	SETD5	ORPHA:404440
HP:0000505	Visual impairment	5879	RAC1	ORPHA:500159
HP:0000505	Visual impairment	51095	TRNT1	OMIM:616959
HP:0000505	Visual impairment	55605	KIF21A	ORPHA:45358
HP:0000505	Visual impairment	7846	TUBA1A	ORPHA:45358
HP:0000505	Visual impairment	84570	COL25A1	ORPHA:45358
HP:0000505	Visual impairment	55214	P3H2	OMIM:614292
HP:0000505	Visual impairment	3166	HMX1	OMIM:612109
HP:0000505	Visual impairment	10466	COG5	ORPHA:263487
HP:0000505	Visual impairment	104	ADARB1	OMIM:618862
HP:0000505	Visual impairment	1183	CLCN4	OMIM:300114
HP:0000505	Visual impairment	1183	CLCN4	ORPHA:485350
HP:0000505	Visual impairment	776	CACNA1D	OMIM:615474
HP:0000505	Visual impairment	776	CACNA1D	ORPHA:369929
HP:0000505	Visual impairment	2495	FTH1	OMIM:620669
HP:0000505	Visual impairment	1317	SLC31A1	OMIM:620306
HP:0000505	Visual impairment	7355	SLC35A2	ORPHA:356961
HP:0000505	Visual impairment	781	CACNA2D1	OMIM:620149
HP:0000505	Visual impairment	85358	SHANK3	OMIM:606232
HP:0000505	Visual impairment	6328	SCN3A	OMIM:617938
HP:0000505	Visual impairment	1119	CHKA	OMIM:620023
HP:0000505	Visual impairment	132158	GLYCTK	ORPHA:941
HP:0000505	Visual impairment	10093	ARPC4	OMIM:620141
HP:0000505	Visual impairment	1729	DIAPH1	ORPHA:477814
HP:0000505	Visual impairment	1729	DIAPH1	OMIM:616632
HP:0000505	Visual impairment	128869	PIGU	OMIM:618590
HP:0000505	Visual impairment	51112	TRAPPC12	ORPHA:500144
HP:0000505	Visual impairment	51112	TRAPPC12	OMIM:617669
HP:0000505	Visual impairment	51103	NDUFAF1	OMIM:618234
HP:0000505	Visual impairment	387119	CEP85L	OMIM:618873
HP:0000505	Visual impairment	387119	CEP85L	ORPHA:572013
HP:0000505	Visual impairment	3020	H3-3A	OMIM:619720
HP:0000505	Visual impairment	6651	SON	OMIM:617140
HP:0000505	Visual impairment	6651	SON	ORPHA:500150
HP:0000505	Visual impairment	57520	HECW2	OMIM:617268
HP:0000505	Visual impairment	396	ARHGDIA	OMIM:615244
HP:0000505	Visual impairment	2782	GNB1	ORPHA:488613
HP:0000505	Visual impairment	2782	GNB1	OMIM:616973
HP:0000505	Visual impairment	27245	AHDC1	ORPHA:412069
HP:0000505	Visual impairment	1841	DTYMK	OMIM:619847
HP:0000505	Visual impairment	80055	PGAP1	OMIM:615802
HP:0000505	Visual impairment	157922	CAMSAP1	OMIM:620316
HP:0000505	Visual impairment	2561	GABRB2	OMIM:617829
HP:0000505	Visual impairment	271	AMPD2	OMIM:615809
HP:0000505	Visual impairment	23499	MACF1	ORPHA:572013
HP:0000505	Visual impairment	23499	MACF1	OMIM:618325
HP:0000505	Visual impairment	1185	CLCN6	OMIM:619173
HP:0000505	Visual impairment	4511	MT-TC	OMIM:540000
HP:0000505	Visual impairment	4577	MT-TV	OMIM:540000
HP:0000505	Visual impairment	4566	MT-TK	OMIM:540000
HP:0000505	Visual impairment	4001	LMNB1	OMIM:619179
HP:0000505	Visual impairment	2560	GABRB1	OMIM:617153
HP:0000505	Visual impairment	10588	MTHFS	OMIM:618367
HP:0000505	Visual impairment	9698	PUM1	OMIM:620719
HP:0000505	Visual impairment	100131801	PET100	OMIM:619055
HP:0000505	Visual impairment	55572	FOXRED1	OMIM:618241
HP:0000505	Visual impairment	3899	AFF3	OMIM:619297
HP:0000505	Visual impairment	6844	VAMP2	OMIM:618760
HP:0000505	Visual impairment	5119	CHMP1A	OMIM:614961
HP:0000505	Visual impairment	79029	AFG2B	OMIM:619616
HP:0000505	Visual impairment	5530	PPP3CA	OMIM:617711
HP:0000505	Visual impairment	7994	KAT6A	ORPHA:457193
HP:0000505	Visual impairment	7994	KAT6A	OMIM:616268
HP:0000505	Visual impairment	93627	TBCK	OMIM:616900
HP:0000505	Visual impairment	9675	TTI1	OMIM:620445
HP:0000505	Visual impairment	29920	PYCR2	ORPHA:481152
HP:0000505	Visual impairment	2917	GRM7	OMIM:618922
HP:0000505	Visual impairment	128989	TANGO2	ORPHA:480864
HP:0000505	Visual impairment	6821	SUOX	OMIM:272300
HP:0000505	Visual impairment	2898	GRIK2	OMIM:619580
HP:0000505	Visual impairment	6792	CDKL5	ORPHA:505652
HP:0000505	Visual impairment	6792	CDKL5	OMIM:300672
HP:0000505	Visual impairment	10087	CERT1	OMIM:616351
HP:0000505	Visual impairment	774	CACNA1B	OMIM:618497
HP:0000505	Visual impairment	11342	RNF13	OMIM:618379
HP:0000505	Visual impairment	11342	RNF13	ORPHA:544503
HP:0000505	Visual impairment	2906	GRIN2D	OMIM:617162
HP:0000505	Visual impairment	54681	P4HTM	OMIM:618493
HP:0000505	Visual impairment	23327	NEDD4L	OMIM:617201
HP:0000505	Visual impairment	1822	ATN1	OMIM:618494
HP:0000505	Visual impairment	4761	NEUROD2	OMIM:618374
HP:0000505	Visual impairment	2257	FGF12	OMIM:617166
HP:0000505	Visual impairment	23065	EMC1	OMIM:616875
HP:0000505	Visual impairment	23065	EMC1	ORPHA:480898
HP:0000505	Visual impairment	28514	DLL1	ORPHA:93926
HP:0000505	Visual impairment	28514	DLL1	ORPHA:93924
HP:0000505	Visual impairment	28514	DLL1	ORPHA:93925
HP:0000505	Visual impairment	28514	DLL1	ORPHA:220386
HP:0000505	Visual impairment	6496	SIX3	ORPHA:93926
HP:0000505	Visual impairment	6496	SIX3	ORPHA:93924
HP:0000505	Visual impairment	6496	SIX3	ORPHA:93925
HP:0000505	Visual impairment	6496	SIX3	ORPHA:220386
HP:0000505	Visual impairment	7050	TGIF1	ORPHA:93926
HP:0000505	Visual impairment	7050	TGIF1	ORPHA:93924
HP:0000505	Visual impairment	7050	TGIF1	ORPHA:93925
HP:0000505	Visual impairment	7050	TGIF1	ORPHA:220386
HP:0000505	Visual impairment	4838	NODAL	ORPHA:93926
HP:0000505	Visual impairment	4838	NODAL	ORPHA:93924
HP:0000505	Visual impairment	4838	NODAL	ORPHA:93925
HP:0000505	Visual impairment	4838	NODAL	ORPHA:220386
HP:0000505	Visual impairment	6469	SHH	ORPHA:93926
HP:0000505	Visual impairment	6469	SHH	ORPHA:93924
HP:0000505	Visual impairment	6469	SHH	ORPHA:93925
HP:0000505	Visual impairment	6469	SHH	ORPHA:220386
HP:0000505	Visual impairment	7546	ZIC2	ORPHA:93926
HP:0000505	Visual impairment	7546	ZIC2	ORPHA:93924
HP:0000505	Visual impairment	7546	ZIC2	ORPHA:93925
HP:0000505	Visual impairment	7546	ZIC2	ORPHA:220386
HP:0000505	Visual impairment	6491	STIL	ORPHA:93926
HP:0000505	Visual impairment	6491	STIL	ORPHA:93924
HP:0000505	Visual impairment	6491	STIL	ORPHA:93925
HP:0000505	Visual impairment	6491	STIL	ORPHA:220386
HP:0000505	Visual impairment	2619	GAS1	ORPHA:93926
HP:0000505	Visual impairment	2619	GAS1	ORPHA:93924
HP:0000505	Visual impairment	2619	GAS1	ORPHA:93925
HP:0000505	Visual impairment	2619	GAS1	ORPHA:220386
HP:0000505	Visual impairment	84976	DISP1	ORPHA:93926
HP:0000505	Visual impairment	84976	DISP1	ORPHA:93924
HP:0000505	Visual impairment	84976	DISP1	ORPHA:93925
HP:0000505	Visual impairment	84976	DISP1	ORPHA:220386
HP:0000505	Visual impairment	2736	GLI2	ORPHA:93926
HP:0000505	Visual impairment	2736	GLI2	ORPHA:93924
HP:0000505	Visual impairment	2736	GLI2	ORPHA:93925
HP:0000505	Visual impairment	2736	GLI2	ORPHA:220386
HP:0000505	Visual impairment	8928	FOXH1	ORPHA:93926
HP:0000505	Visual impairment	8928	FOXH1	ORPHA:93924
HP:0000505	Visual impairment	8928	FOXH1	ORPHA:93925
HP:0000505	Visual impairment	8928	FOXH1	ORPHA:220386
HP:0000505	Visual impairment	6997	CRIPTO	ORPHA:93926
HP:0000505	Visual impairment	6997	CRIPTO	ORPHA:93924
HP:0000505	Visual impairment	6997	CRIPTO	ORPHA:93925
HP:0000505	Visual impairment	6997	CRIPTO	ORPHA:220386
HP:0000505	Visual impairment	5727	PTCH1	ORPHA:93926
HP:0000505	Visual impairment	5727	PTCH1	ORPHA:93924
HP:0000505	Visual impairment	5727	PTCH1	ORPHA:93925
HP:0000505	Visual impairment	5727	PTCH1	ORPHA:220386
HP:0000505	Visual impairment	50937	CDON	ORPHA:93926
HP:0000505	Visual impairment	50937	CDON	ORPHA:93924
HP:0000505	Visual impairment	50937	CDON	ORPHA:93925
HP:0000505	Visual impairment	50937	CDON	ORPHA:220386
HP:0000505	Visual impairment	23007	PLCH1	ORPHA:93925
HP:0000505	Visual impairment	10735	STAG2	ORPHA:93925
HP:0000505	Visual impairment	10735	STAG2	ORPHA:220386
HP:0000505	Visual impairment	79731	NARS2	OMIM:616239
HP:0000505	Visual impairment	26227	PHGDH	ORPHA:79351
HP:0000505	Visual impairment	6638	SNRPN	ORPHA:177907
HP:0000505	Visual impairment	84265	POLR3GL	OMIM:619234
HP:0000505	Visual impairment	57003	CCDC47	OMIM:618268
HP:0000505	Visual impairment	22931	RAB18	OMIM:614222
HP:0000505	Visual impairment	22931	RAB18	ORPHA:2510
HP:0000505	Visual impairment	9894	TELO2	ORPHA:488642
HP:0000505	Visual impairment	9894	TELO2	OMIM:616954
HP:0000505	Visual impairment	51692	CPSF3	OMIM:619876
HP:0000505	Visual impairment	85440	DOCK7	ORPHA:411986
HP:0000505	Visual impairment	85440	DOCK7	OMIM:615859
HP:0000505	Visual impairment	9091	PIGQ	OMIM:618548
HP:0000505	Visual impairment	83475	DOHH	OMIM:620066
HP:0000505	Visual impairment	728294	D2HGDH	OMIM:600721
HP:0000505	Visual impairment	2222	FDFT1	OMIM:618156
HP:0000505	Visual impairment	90522	YIF1B	OMIM:619125
HP:0000505	Visual impairment	253959	RALGAPA1	OMIM:618797
HP:0000505	Visual impairment	2555	GABRA2	OMIM:618557
HP:0000505	Visual impairment	25973	PARS2	OMIM:618437
HP:0000505	Visual impairment	8911	CACNA1I	OMIM:620114
HP:0000505	Visual impairment	60386	SLC25A19	OMIM:607196
HP:0000505	Visual impairment	8813	DPM1	OMIM:608799
HP:0000505	Visual impairment	8813	DPM1	ORPHA:79322
HP:0000505	Visual impairment	23162	MAPK8IP3	OMIM:618443
HP:0000505	Visual impairment	3798	KIF5A	OMIM:617235
HP:0000505	Visual impairment	440	ASNS	OMIM:615574
HP:0000505	Visual impairment	777	CACNA1E	OMIM:618285
HP:0000505	Visual impairment	84231	TRAF7	OMIM:618164
HP:0000505	Visual impairment	4668	NAGA	OMIM:609241
HP:0000505	Visual impairment	4668	NAGA	ORPHA:79279
HP:0000505	Visual impairment	8243	SMC1A	ORPHA:220386
HP:0000505	Visual impairment	133686	NADK2	ORPHA:431361
HP:0000505	Visual impairment	133686	NADK2	OMIM:616034
HP:0000505	Visual impairment	738	VPS51	OMIM:618606
HP:0000505	Visual impairment	51227	PIGP	OMIM:617599
HP:0000505	Visual impairment	1107	CHD3	OMIM:618205
HP:0000505	Visual impairment	5718	PSMD12	OMIM:617516
HP:0000505	Visual impairment	9757	KMT2B	OMIM:619934
HP:0000505	Visual impairment	57731	SPTBN4	OMIM:617519
HP:0000505	Visual impairment	22930	RAB3GAP1	ORPHA:2510
HP:0000505	Visual impairment	25782	RAB3GAP2	ORPHA:2510
HP:0000505	Visual impairment	116150	NUS1	OMIM:617082
HP:0000505	Visual impairment	6576	SLC25A1	OMIM:615182
HP:0000505	Visual impairment	2902	GRIN1	OMIM:614254
HP:0000505	Visual impairment	2902	GRIN1	ORPHA:208447
HP:0000505	Visual impairment	51693	TRAPPC2L	OMIM:618331
HP:0000505	Visual impairment	9276	COPB2	OMIM:617800
HP:0000505	Visual impairment	10844	TUBGCP2	OMIM:618737
HP:0000505	Visual impairment	547	KIF1A	OMIM:614255
HP:0000505	Visual impairment	57107	PDSS2	OMIM:614652
HP:0000505	Visual impairment	58497	PRUNE1	ORPHA:544469
HP:0000505	Visual impairment	55294	FBXW7	OMIM:620012
HP:0000505	Visual impairment	9900	SV2A	OMIM:620772
HP:0007760	Crystalline corneal dystrophy	285440	CYP4V2	ORPHA:41751
HP:0007760	Crystalline corneal dystrophy	29914	UBIAD1	OMIM:121800
HP:0007761	Pericentral scotoma	9094	UNC119	OMIM:620342
HP:0007761	Pericentral scotoma	6102	RP2	OMIM:312600
HP:0000544	External ophthalmoplegia	5428	POLG	ORPHA:298
HP:0000544	External ophthalmoplegia	5428	POLG	ORPHA:254892
HP:0000544	External ophthalmoplegia	5428	POLG	OMIM:607459
HP:0000544	External ophthalmoplegia	5428	POLG	ORPHA:254886
HP:0000544	External ophthalmoplegia	1890	TYMP	ORPHA:298
HP:0000544	External ophthalmoplegia	3980	LIG3	ORPHA:298
HP:0000544	External ophthalmoplegia	50484	RRM2B	ORPHA:298
HP:0000544	External ophthalmoplegia	50484	RRM2B	ORPHA:254892
HP:0000544	External ophthalmoplegia	50484	RRM2B	OMIM:612075
HP:0000544	External ophthalmoplegia	291	SLC25A4	ORPHA:254892
HP:0000544	External ophthalmoplegia	56652	TWNK	ORPHA:254892
HP:0000544	External ophthalmoplegia	56652	TWNK	OMIM:607459
HP:0000544	External ophthalmoplegia	11232	POLG2	ORPHA:254892
HP:0000544	External ophthalmoplegia	353116	RILPL1	OMIM:619790
HP:0000544	External ophthalmoplegia	4287	ATXN3	OMIM:109150
HP:0000544	External ophthalmoplegia	2483	FRG1	OMIM:158900
HP:0000544	External ophthalmoplegia	10755	GIPC1	OMIM:618940
HP:0000544	External ophthalmoplegia	35	ACADS	OMIM:201470
HP:0000544	External ophthalmoplegia	63899	NSUN3	OMIM:619012
HP:0000544	External ophthalmoplegia	27247	NFU1	OMIM:620938
HP:0000544	External ophthalmoplegia	57167	SALL4	OMIM:147750
HP:0000544	External ophthalmoplegia	6261	RYR1	OMIM:255320
HP:0000544	External ophthalmoplegia	6261	RYR1	ORPHA:98905
HP:0000544	External ophthalmoplegia	6261	RYR1	ORPHA:169189
HP:0000544	External ophthalmoplegia	6389	SDHA	ORPHA:3208
HP:0000544	External ophthalmoplegia	6390	SDHB	ORPHA:3208
HP:0000544	External ophthalmoplegia	6392	SDHD	ORPHA:3208
HP:0000544	External ophthalmoplegia	644096	SDHAF1	ORPHA:3208
HP:0000544	External ophthalmoplegia	90624	LYRM7	OMIM:615838
HP:0000544	External ophthalmoplegia	91574	MTRFR	OMIM:613559
HP:0000544	External ophthalmoplegia	29967	LRP12	OMIM:164310
HP:0000544	External ophthalmoplegia	4534	MTM1	OMIM:310400
HP:0000544	External ophthalmoplegia	80704	SLC19A3	OMIM:607483
HP:0000544	External ophthalmoplegia	274	BIN1	ORPHA:169189
HP:0000544	External ophthalmoplegia	64419	MTMR14	ORPHA:169189
HP:0000544	External ophthalmoplegia	64419	MTMR14	OMIM:160150
HP:0000544	External ophthalmoplegia	4618	MYF6	ORPHA:169189
HP:0000544	External ophthalmoplegia	1785	DNM2	ORPHA:169189
HP:0000544	External ophthalmoplegia	1785	DNM2	OMIM:160150
HP:0000544	External ophthalmoplegia	91942	NDUFAF2	OMIM:618233
HP:0000544	External ophthalmoplegia	7084	TK2	ORPHA:254886
HP:0000544	External ophthalmoplegia	84842	HPDL	OMIM:619026
HP:0000544	External ophthalmoplegia	10533	ATG7	OMIM:619422
HP:0000544	External ophthalmoplegia	56947	MFF	OMIM:617086
HP:0000544	External ophthalmoplegia	56947	MFF	ORPHA:485421
HP:0000544	External ophthalmoplegia	6329	SCN4A	OMIM:614198
HP:0000544	External ophthalmoplegia	6329	SCN4A	OMIM:620351
HP:0000544	External ophthalmoplegia	4617	MYF5	OMIM:618155
HP:0000544	External ophthalmoplegia	101060691	NUTM2B-AS1	OMIM:618637
HP:0000544	External ophthalmoplegia	10273	STUB1	OMIM:615768
HP:0000544	External ophthalmoplegia	79152	FA2H	OMIM:612319
HP:0000544	External ophthalmoplegia	113278	SLC52A3	OMIM:211530
HP:0000544	External ophthalmoplegia	6786	STIM1	OMIM:160565
HP:0000544	External ophthalmoplegia	4558	MT-TF	ORPHA:550
HP:0000544	External ophthalmoplegia	4572	MT-TQ	ORPHA:550
HP:0000544	External ophthalmoplegia	4512	MT-CO1	ORPHA:550
HP:0000544	External ophthalmoplegia	4513	MT-CO2	ORPHA:550
HP:0000544	External ophthalmoplegia	4514	MT-CO3	ORPHA:550
HP:0000544	External ophthalmoplegia	4578	MT-TW	ORPHA:550
HP:0000544	External ophthalmoplegia	4540	MT-ND5	ORPHA:550
HP:0000544	External ophthalmoplegia	4541	MT-ND6	ORPHA:550
HP:0000544	External ophthalmoplegia	4535	MT-ND1	ORPHA:550
HP:0000544	External ophthalmoplegia	4538	MT-ND4	ORPHA:550
HP:0000544	External ophthalmoplegia	4567	MT-TL1	ORPHA:550
HP:0000544	External ophthalmoplegia	4567	MT-TL1	ORPHA:663
HP:0000544	External ophthalmoplegia	4567	MT-TL1	ORPHA:480
HP:0000544	External ophthalmoplegia	4574	MT-TS1	ORPHA:550
HP:0000544	External ophthalmoplegia	4574	MT-TS1	ORPHA:663
HP:0000544	External ophthalmoplegia	4575	MT-TS2	ORPHA:550
HP:0000544	External ophthalmoplegia	4564	MT-TH	ORPHA:550
HP:0000544	External ophthalmoplegia	1716	DGUOK	OMIM:617070
HP:0000544	External ophthalmoplegia	1716	DGUOK	ORPHA:329314
HP:0000544	External ophthalmoplegia	1763	DNA2	OMIM:615156
HP:0000544	External ophthalmoplegia	1763	DNA2	ORPHA:352470
HP:0000544	External ophthalmoplegia	4576	MT-TT	ORPHA:254857
HP:0000544	External ophthalmoplegia	246243	RNASEH1	ORPHA:329336
HP:0000544	External ophthalmoplegia	246243	RNASEH1	OMIM:616479
HP:0000544	External ophthalmoplegia	708	C1QBP	OMIM:617713
HP:0000544	External ophthalmoplegia	4566	MT-TK	ORPHA:1349
HP:0000544	External ophthalmoplegia	4976	OPA1	OMIM:165500
HP:0000544	External ophthalmoplegia	4976	OPA1	ORPHA:1215
HP:0000544	External ophthalmoplegia	57176	VARS2	OMIM:615917
HP:0000544	External ophthalmoplegia	92667	MGME1	ORPHA:352447
HP:0000544	External ophthalmoplegia	92667	MGME1	OMIM:615084
HP:0000544	External ophthalmoplegia	4568	MT-TL2	ORPHA:663
HP:0000544	External ophthalmoplegia	4570	MT-TN	ORPHA:663
HP:0000544	External ophthalmoplegia	4509	MT-ATP8	ORPHA:480
HP:0000544	External ophthalmoplegia	5442	POLRMT	OMIM:619743
HP:0000544	External ophthalmoplegia	7156	TOP3A	OMIM:618098
HP:0000544	External ophthalmoplegia	132001	TAMM41	OMIM:620139
HP:0000544	External ophthalmoplegia	54840	APTX	OMIM:208920
HP:0000544	External ophthalmoplegia	100996717	NOTCH2NLC	ORPHA:98897
HP:0000544	External ophthalmoplegia	55605	KIF21A	ORPHA:45358
HP:0000544	External ophthalmoplegia	347733	TUBB2B	ORPHA:45358
HP:0000544	External ophthalmoplegia	7846	TUBA1A	ORPHA:45358
HP:0000544	External ophthalmoplegia	401	PHOX2A	ORPHA:45358
HP:0000544	External ophthalmoplegia	10381	TUBB3	ORPHA:45358
HP:0000544	External ophthalmoplegia	10381	TUBB3	OMIM:600638
HP:0000544	External ophthalmoplegia	84570	COL25A1	ORPHA:45358
HP:0007763	Retinal telangiectasia	80169	CTC1	OMIM:612199
HP:0007763	Retinal telangiectasia	2658	GDF2	ORPHA:774
HP:0007763	Retinal telangiectasia	94	ACVRL1	ORPHA:774
HP:0007763	Retinal telangiectasia	4089	SMAD4	ORPHA:774
HP:0007763	Retinal telangiectasia	2022	ENG	ORPHA:774
HP:0007763	Retinal telangiectasia	84277	DNAJC30	OMIM:619382
HP:0007763	Retinal telangiectasia	84277	DNAJC30	ORPHA:104
HP:0007763	Retinal telangiectasia	2483	FRG1	OMIM:158900
HP:0007763	Retinal telangiectasia	29072	SETD2	OMIM:620157
HP:0007763	Retinal telangiectasia	29072	SETD2	OMIM:620155
HP:0007763	Retinal telangiectasia	79991	STN1	OMIM:617341
HP:0007763	Retinal telangiectasia	5111	PCNA	ORPHA:438134
HP:0007763	Retinal telangiectasia	4535	MT-ND1	ORPHA:104
HP:0007763	Retinal telangiectasia	4536	MT-ND2	ORPHA:104
HP:0007763	Retinal telangiectasia	4538	MT-ND4	ORPHA:104
HP:0007763	Retinal telangiectasia	4720	NDUFS2	ORPHA:104
HP:0007763	Retinal telangiectasia	4512	MT-CO1	ORPHA:104
HP:0007763	Retinal telangiectasia	4514	MT-CO3	ORPHA:104
HP:0007763	Retinal telangiectasia	4519	MT-CYB	ORPHA:104
HP:0007763	Retinal telangiectasia	4508	MT-ATP6	ORPHA:104
HP:0007763	Retinal telangiectasia	4540	MT-ND5	ORPHA:104
HP:0007763	Retinal telangiectasia	4541	MT-ND6	ORPHA:104
HP:0007763	Retinal telangiectasia	4539	MT-ND4L	ORPHA:104
HP:0007763	Retinal telangiectasia	4693	NDP	ORPHA:891
HP:0007763	Retinal telangiectasia	1499	CTNNB1	ORPHA:891
HP:0007763	Retinal telangiectasia	23554	TSPAN12	ORPHA:891
HP:0007763	Retinal telangiectasia	4041	LRP5	ORPHA:891
HP:0007763	Retinal telangiectasia	79797	ZNF408	ORPHA:891
HP:0007763	Retinal telangiectasia	8322	FZD4	ORPHA:891
HP:0000657	Oculomotor apraxia	6095	RORA	OMIM:618060
HP:0000657	Oculomotor apraxia	55906	ZC4H2	OMIM:301041
HP:0000657	Oculomotor apraxia	55906	ZC4H2	OMIM:314580
HP:0000657	Oculomotor apraxia	55906	ZC4H2	ORPHA:3454
HP:0000657	Oculomotor apraxia	4137	MAPT	ORPHA:240094
HP:0000657	Oculomotor apraxia	2895	GRID2	OMIM:616204
HP:0000657	Oculomotor apraxia	26160	IFT172	OMIM:615630
HP:0000657	Oculomotor apraxia	53371	NUP54	OMIM:620427
HP:0000657	Oculomotor apraxia	10059	DNM1L	OMIM:614388
HP:0000657	Oculomotor apraxia	80184	CEP290	OMIM:610188
HP:0000657	Oculomotor apraxia	79848	CSPP1	OMIM:615636
HP:0000657	Oculomotor apraxia	79848	CSPP1	ORPHA:397715
HP:0000657	Oculomotor apraxia	79848	CSPP1	ORPHA:475
HP:0000657	Oculomotor apraxia	673	BRAF	OMIM:115150
HP:0000657	Oculomotor apraxia	11284	PNKP	ORPHA:459033
HP:0000657	Oculomotor apraxia	11284	PNKP	OMIM:616267
HP:0000657	Oculomotor apraxia	51259	TMEM216	OMIM:608091
HP:0000657	Oculomotor apraxia	56623	INPP5E	OMIM:213300
HP:0000657	Oculomotor apraxia	56623	INPP5E	ORPHA:220493
HP:0000657	Oculomotor apraxia	56623	INPP5E	ORPHA:1454
HP:0000657	Oculomotor apraxia	56623	INPP5E	ORPHA:475
HP:0000657	Oculomotor apraxia	253738	EBF3	ORPHA:96148
HP:0000657	Oculomotor apraxia	23028	KDM1A	OMIM:616728
HP:0000657	Oculomotor apraxia	23028	KDM1A	ORPHA:477993
HP:0000657	Oculomotor apraxia	3708	ITPR1	ORPHA:208513
HP:0000657	Oculomotor apraxia	3708	ITPR1	OMIM:117360
HP:0000657	Oculomotor apraxia	3708	ITPR1	OMIM:206700
HP:0000657	Oculomotor apraxia	4867	NPHP1	OMIM:609583
HP:0000657	Oculomotor apraxia	4867	NPHP1	ORPHA:220497
HP:0000657	Oculomotor apraxia	91147	TMEM67	OMIM:216360
HP:0000657	Oculomotor apraxia	91147	TMEM67	ORPHA:1454
HP:0000657	Oculomotor apraxia	91147	TMEM67	ORPHA:475
HP:0000657	Oculomotor apraxia	91147	TMEM67	OMIM:610688
HP:0000657	Oculomotor apraxia	9786	KIAA0586	ORPHA:397715
HP:0000657	Oculomotor apraxia	9786	KIAA0586	ORPHA:475
HP:0000657	Oculomotor apraxia	6658	SOX3	ORPHA:67045
HP:0000657	Oculomotor apraxia	613	BCR	ORPHA:261330
HP:0000657	Oculomotor apraxia	1399	CRKL	ORPHA:261330
HP:0000657	Oculomotor apraxia	5594	MAPK1	ORPHA:261330
HP:0000657	Oculomotor apraxia	51506	UFC1	OMIM:618076
HP:0000657	Oculomotor apraxia	6311	ATXN2	OMIM:183090
HP:0000657	Oculomotor apraxia	219854	TMEM218	OMIM:619562
HP:0000657	Oculomotor apraxia	219854	TMEM218	ORPHA:475
HP:0000657	Oculomotor apraxia	4649	MYO9A	OMIM:618198
HP:0000657	Oculomotor apraxia	8878	SQSTM1	OMIM:617145
HP:0000657	Oculomotor apraxia	84162	BLTP1	OMIM:617822
HP:0000657	Oculomotor apraxia	23322	RPGRIP1L	ORPHA:220497
HP:0000657	Oculomotor apraxia	23322	RPGRIP1L	OMIM:611560
HP:0000657	Oculomotor apraxia	23322	RPGRIP1L	ORPHA:1454
HP:0000657	Oculomotor apraxia	23322	RPGRIP1L	OMIM:619113
HP:0000657	Oculomotor apraxia	65062	TMEM237	ORPHA:220497
HP:0000657	Oculomotor apraxia	65062	TMEM237	ORPHA:475
HP:0000657	Oculomotor apraxia	54806	AHI1	ORPHA:220493
HP:0000657	Oculomotor apraxia	54806	AHI1	OMIM:608629
HP:0000657	Oculomotor apraxia	54806	AHI1	ORPHA:475
HP:0000657	Oculomotor apraxia	153241	CEP120	ORPHA:220493
HP:0000657	Oculomotor apraxia	153241	CEP120	ORPHA:475
HP:0000657	Oculomotor apraxia	153241	CEP120	OMIM:617761
HP:0000657	Oculomotor apraxia	54903	MKS1	ORPHA:220493
HP:0000657	Oculomotor apraxia	54903	MKS1	ORPHA:475
HP:0000657	Oculomotor apraxia	54903	MKS1	OMIM:617121
HP:0000657	Oculomotor apraxia	95681	CEP41	ORPHA:220493
HP:0000657	Oculomotor apraxia	95681	CEP41	ORPHA:475
HP:0000657	Oculomotor apraxia	95681	CEP41	OMIM:614464
HP:0000657	Oculomotor apraxia	51010	EXOSC3	OMIM:614678
HP:0000657	Oculomotor apraxia	55768	NGLY1	ORPHA:404454
HP:0000657	Oculomotor apraxia	347733	TUBB2B	ORPHA:467166
HP:0000657	Oculomotor apraxia	7846	TUBA1A	ORPHA:467166
HP:0000657	Oculomotor apraxia	10381	TUBB3	ORPHA:467166
HP:0000657	Oculomotor apraxia	10381	TUBB3	ORPHA:300570
HP:0000657	Oculomotor apraxia	84992	PIGY	ORPHA:247262
HP:0000657	Oculomotor apraxia	84720	PIGO	ORPHA:247262
HP:0000657	Oculomotor apraxia	93210	PGAP3	ORPHA:247262
HP:0000657	Oculomotor apraxia	284098	PIGW	ORPHA:247262
HP:0000657	Oculomotor apraxia	27315	PGAP2	ORPHA:247262
HP:0000657	Oculomotor apraxia	55650	PIGV	ORPHA:247262
HP:0000657	Oculomotor apraxia	9487	PIGL	ORPHA:247262
HP:0000657	Oculomotor apraxia	8913	CACNA1G	OMIM:618087
HP:0000657	Oculomotor apraxia	215	ABCD1	ORPHA:139396
HP:0000657	Oculomotor apraxia	3756	KCNH1	OMIM:135500
HP:0000657	Oculomotor apraxia	114034	TOE1	OMIM:614969
HP:0000657	Oculomotor apraxia	5190	PEX6	ORPHA:95433
HP:0000657	Oculomotor apraxia	4361	MRE11	OMIM:604391
HP:0000657	Oculomotor apraxia	4361	MRE11	ORPHA:251347
HP:0000657	Oculomotor apraxia	10939	AFG3L2	ORPHA:313772
HP:0000657	Oculomotor apraxia	10939	AFG3L2	OMIM:614487
HP:0000657	Oculomotor apraxia	23116	TOGARAM1	OMIM:619185
HP:0000657	Oculomotor apraxia	23116	TOGARAM1	ORPHA:475
HP:0000657	Oculomotor apraxia	23203	PMPCA	ORPHA:1170
HP:0000657	Oculomotor apraxia	84342	COG8	OMIM:611182
HP:0000657	Oculomotor apraxia	80173	IFT74	OMIM:619582
HP:0000657	Oculomotor apraxia	80173	IFT74	ORPHA:475
HP:0000657	Oculomotor apraxia	84314	TMEM107	OMIM:617563
HP:0000657	Oculomotor apraxia	84314	TMEM107	OMIM:617562
HP:0000657	Oculomotor apraxia	5147	PDE6D	OMIM:615665
HP:0000657	Oculomotor apraxia	5147	PDE6D	ORPHA:475
HP:0000657	Oculomotor apraxia	57545	CC2D2A	ORPHA:1454
HP:0000657	Oculomotor apraxia	57545	CC2D2A	OMIM:612285
HP:0000657	Oculomotor apraxia	57545	CC2D2A	OMIM:619111
HP:0000657	Oculomotor apraxia	79583	TMEM231	OMIM:614970
HP:0000657	Oculomotor apraxia	1200	TPP1	OMIM:609270
HP:0000657	Oculomotor apraxia	1200	TPP1	ORPHA:284324
HP:0000657	Oculomotor apraxia	54840	APTX	OMIM:208920
HP:0000657	Oculomotor apraxia	10382	TUBB4A	OMIM:612438
HP:0000657	Oculomotor apraxia	65250	CPLANE1	OMIM:614615
HP:0000657	Oculomotor apraxia	65250	CPLANE1	ORPHA:475
HP:0000657	Oculomotor apraxia	6697	SPR	OMIM:612716
HP:0000657	Oculomotor apraxia	5192	PEX10	ORPHA:247815
HP:0000657	Oculomotor apraxia	57167	SALL4	ORPHA:233
HP:0000657	Oculomotor apraxia	9935	MAFB	ORPHA:233
HP:0000657	Oculomotor apraxia	1123	CHN1	ORPHA:233
HP:0000657	Oculomotor apraxia	9851	KIAA0753	ORPHA:475
HP:0000657	Oculomotor apraxia	9851	KIAA0753	OMIM:619476
HP:0000657	Oculomotor apraxia	79600	TCTN1	ORPHA:475
HP:0000657	Oculomotor apraxia	8481	OFD1	ORPHA:475
HP:0000657	Oculomotor apraxia	51684	SUFU	ORPHA:475
HP:0000657	Oculomotor apraxia	51684	SUFU	OMIM:617757
HP:0000657	Oculomotor apraxia	200894	ARL13B	ORPHA:475
HP:0000657	Oculomotor apraxia	200894	ARL13B	OMIM:612291
HP:0000657	Oculomotor apraxia	9731	CEP104	ORPHA:475
HP:0000657	Oculomotor apraxia	9731	CEP104	OMIM:616781
HP:0000657	Oculomotor apraxia	219844	HYLS1	ORPHA:475
HP:0000657	Oculomotor apraxia	23247	KATNIP	ORPHA:475
HP:0000657	Oculomotor apraxia	26123	TCTN3	ORPHA:475
HP:0000657	Oculomotor apraxia	79867	TCTN2	ORPHA:475
HP:0000657	Oculomotor apraxia	80776	B9D2	ORPHA:475
HP:0000657	Oculomotor apraxia	10464	PIBF1	ORPHA:475
HP:0000657	Oculomotor apraxia	10464	PIBF1	OMIM:617767
HP:0000657	Oculomotor apraxia	80210	ARMC9	ORPHA:475
HP:0000657	Oculomotor apraxia	25776	CBY1	ORPHA:475
HP:0000657	Oculomotor apraxia	27077	B9D1	ORPHA:475
HP:0000657	Oculomotor apraxia	27077	B9D1	OMIM:617120
HP:0000657	Oculomotor apraxia	403	ARL3	ORPHA:475
HP:0000657	Oculomotor apraxia	403	ARL3	OMIM:618161
HP:0000657	Oculomotor apraxia	8363	H4C11	OMIM:619759
HP:0000657	Oculomotor apraxia	55280	CWF19L1	OMIM:616127
HP:0000657	Oculomotor apraxia	55280	CWF19L1	ORPHA:453521
HP:0000657	Oculomotor apraxia	23533	PIK3R5	ORPHA:64753
HP:0000657	Oculomotor apraxia	23533	PIK3R5	OMIM:615217
HP:0000657	Oculomotor apraxia	23064	SETX	ORPHA:64753
HP:0000657	Oculomotor apraxia	23064	SETX	OMIM:606002
HP:0000657	Oculomotor apraxia	51524	TMEM138	OMIM:614465
HP:0000657	Oculomotor apraxia	5828	PEX2	OMIM:614867
HP:0000657	Oculomotor apraxia	773	CACNA1A	ORPHA:2131
HP:0000657	Oculomotor apraxia	6507	SLC1A3	ORPHA:2131
HP:0000657	Oculomotor apraxia	477	ATP1A2	ORPHA:2131
HP:0000657	Oculomotor apraxia	478	ATP1A3	ORPHA:2131
HP:0000657	Oculomotor apraxia	7305	TYROBP	ORPHA:2770
HP:0000657	Oculomotor apraxia	54209	TREM2	ORPHA:2770
HP:0000657	Oculomotor apraxia	54209	TREM2	ORPHA:1020
HP:0000657	Oculomotor apraxia	1737	DLAT	OMIM:245348
HP:0000657	Oculomotor apraxia	8733	GPAA1	ORPHA:529665
HP:0000657	Oculomotor apraxia	22983	MAST1	OMIM:618273
HP:0000657	Oculomotor apraxia	79152	FA2H	ORPHA:171629
HP:0000657	Oculomotor apraxia	284217	LAMA1	OMIM:615960
HP:0000657	Oculomotor apraxia	284217	LAMA1	ORPHA:370022
HP:0000657	Oculomotor apraxia	2629	GBA1	ORPHA:2072
HP:0000657	Oculomotor apraxia	2629	GBA1	OMIM:230900
HP:0000657	Oculomotor apraxia	10463	SLC30A9	OMIM:617595
HP:0000657	Oculomotor apraxia	10273	STUB1	ORPHA:412057
HP:0000657	Oculomotor apraxia	7515	XRCC1	OMIM:617633
HP:0000657	Oculomotor apraxia	5663	PSEN1	ORPHA:1020
HP:0000657	Oculomotor apraxia	5664	PSEN2	ORPHA:1020
HP:0000657	Oculomotor apraxia	10452	TOMM40	ORPHA:1020
HP:0000657	Oculomotor apraxia	351	APP	ORPHA:1020
HP:0000657	Oculomotor apraxia	10347	ABCA7	ORPHA:1020
HP:0000657	Oculomotor apraxia	6653	SORL1	ORPHA:1020
HP:0000657	Oculomotor apraxia	87178	PNPT1	OMIM:608703
HP:0000657	Oculomotor apraxia	23040	MYT1L	ORPHA:647799
HP:0000657	Oculomotor apraxia	283450	HECTD4	OMIM:620250
HP:0007765	Deep anterior chamber	91851	CHRDL1	OMIM:309300
HP:0007765	Deep anterior chamber	1545	CYP1B1	ORPHA:98976
HP:0007765	Deep anterior chamber	4053	LTBP2	ORPHA:98976
HP:0007765	Deep anterior chamber	4053	LTBP2	OMIM:251750
HP:0007765	Deep anterior chamber	4653	MYOC	ORPHA:98976
HP:0007765	Deep anterior chamber	7010	TEK	ORPHA:98976
HP:0000589	Coloboma	4123	MAN2C1	OMIM:619775
HP:0000589	Coloboma	145173	B3GLCT	OMIM:261540
HP:0000589	Coloboma	26005	C2CD3	ORPHA:434179
HP:0000589	Coloboma	26005	C2CD3	OMIM:615948
HP:0000589	Coloboma	220	ALDH1A3	OMIM:615113
HP:0000589	Coloboma	9487	PIGL	OMIM:280000
HP:0000589	Coloboma	9487	PIGL	ORPHA:3474
HP:0000589	Coloboma	8573	CASK	OMIM:300749
HP:0000589	Coloboma	80184	CEP290	OMIM:610188
HP:0000589	Coloboma	2248	FGF3	ORPHA:2791
HP:0000589	Coloboma	3166	HMX1	OMIM:612109
HP:0000589	Coloboma	22930	RAB3GAP1	ORPHA:2510
HP:0000589	Coloboma	25782	RAB3GAP2	ORPHA:2510
HP:0000589	Coloboma	22931	RAB18	ORPHA:2510
HP:0000589	Coloboma	128637	TBC1D20	ORPHA:2510
HP:0000589	Coloboma	5076	PAX2	OMIM:120330
HP:0000589	Coloboma	5076	PAX2	ORPHA:1475
HP:0000589	Coloboma	9839	ZEB2	ORPHA:261537
HP:0000589	Coloboma	9839	ZEB2	ORPHA:261552
HP:0000589	Coloboma	26173	INTS1	OMIM:618571
HP:0000589	Coloboma	54806	AHI1	ORPHA:220493
HP:0000589	Coloboma	56623	INPP5E	ORPHA:220493
HP:0000589	Coloboma	153241	CEP120	ORPHA:220493
HP:0000589	Coloboma	54903	MKS1	ORPHA:220493
HP:0000589	Coloboma	5908	RAP1B	OMIM:620654
HP:0000589	Coloboma	7855	FZD5	OMIM:620731
HP:0000589	Coloboma	6297	SALL2	OMIM:216820
HP:0000589	Coloboma	60	ACTB	OMIM:243310
HP:0000589	Coloboma	9935	MAFB	ORPHA:233
HP:0000589	Coloboma	1123	CHN1	ORPHA:233
HP:0000589	Coloboma	64840	PORCN	OMIM:305600
HP:0000589	Coloboma	64840	PORCN	ORPHA:2092
HP:0000589	Coloboma	54880	BCOR	OMIM:309800
HP:0000589	Coloboma	54880	BCOR	ORPHA:568
HP:0000589	Coloboma	8260	NAA10	OMIM:309800
HP:0000589	Coloboma	8260	NAA10	ORPHA:568
HP:0000589	Coloboma	51259	TMEM216	OMIM:608091
HP:0000589	Coloboma	51259	TMEM216	ORPHA:2318
HP:0000589	Coloboma	10413	YAP1	OMIM:120433
HP:0000589	Coloboma	10413	YAP1	ORPHA:1473
HP:0000589	Coloboma	207	AKT1	ORPHA:744
HP:0000589	Coloboma	79759	ZNF668	OMIM:620194
HP:0000589	Coloboma	6299	SALL1	OMIM:107480
HP:0000589	Coloboma	6299	SALL1	ORPHA:857
HP:0000589	Coloboma	64412	GZF1	OMIM:617662
HP:0000589	Coloboma	3149	HMGB3	OMIM:300915
HP:0000589	Coloboma	4149	MAX	OMIM:620712
HP:0000589	Coloboma	51339	DACT1	ORPHA:857
HP:0000589	Coloboma	113246	C12orf57	OMIM:218340
HP:0000589	Coloboma	51322	WAC	ORPHA:284169
HP:0000589	Coloboma	57020	VPS35L	OMIM:619135
HP:0000589	Coloboma	57020	VPS35L	ORPHA:7
HP:0000589	Coloboma	149461	CLDN19	ORPHA:2196
HP:0000589	Coloboma	55733	HHAT	ORPHA:1422
HP:0000589	Coloboma	8777	MPDZ	OMIM:615219
HP:0000589	Coloboma	5950	RBP4	OMIM:616428
HP:0000589	Coloboma	79583	TMEM231	ORPHA:2318
HP:0000589	Coloboma	23090	ZNF423	ORPHA:2318
HP:0000589	Coloboma	6496	SIX3	OMIM:157170
HP:0000589	Coloboma	28952	CCDC22	ORPHA:7
HP:0000589	Coloboma	56896	DPYSL5	ORPHA:7
HP:0000589	Coloboma	23322	RPGRIP1L	ORPHA:1454
HP:0000589	Coloboma	3476	IGBP1	OMIM:300472
HP:0000589	Coloboma	3476	IGBP1	ORPHA:52055
HP:0000589	Coloboma	4072	EPCAM	ORPHA:92050
HP:0000589	Coloboma	105371045	PERCC1	ORPHA:92050
HP:0000589	Coloboma	1663	DDX11	OMIM:613398
HP:0000589	Coloboma	25836	NIPBL	OMIM:122470
HP:0000589	Coloboma	10653	SPINT2	OMIM:270420
HP:0000589	Coloboma	8295	TRRAP	OMIM:618454
HP:0000589	Coloboma	6608	SMO	ORPHA:1553
HP:0000589	Coloboma	83479	DDX59	OMIM:174300
HP:0000589	Coloboma	83483	PLVAP	OMIM:618183
HP:0000589	Coloboma	22827	PUF60	ORPHA:508498
HP:0000589	Coloboma	22827	PUF60	OMIM:615583
HP:0000589	Coloboma	392255	GDF6	OMIM:613094
HP:0000589	Coloboma	392255	GDF6	OMIM:613703
HP:0000589	Coloboma	71	ACTG1	OMIM:614583
HP:0000589	Coloboma	23126	POGZ	OMIM:616364
HP:0000589	Coloboma	55773	TBC1D23	OMIM:617695
HP:0000589	Coloboma	57545	CC2D2A	OMIM:619111
HP:0000589	Coloboma	6711	SPTBN1	OMIM:619475
HP:0000589	Coloboma	2033	EP300	OMIM:180849
HP:0000589	Coloboma	2033	EP300	ORPHA:353284
HP:0000589	Coloboma	2033	EP300	OMIM:613684
HP:0000589	Coloboma	1387	CREBBP	OMIM:180849
HP:0000589	Coloboma	1387	CREBBP	ORPHA:353281
HP:0000589	Coloboma	1387	CREBBP	ORPHA:353277
HP:0000589	Coloboma	95681	CEP41	OMIM:614464
HP:0000589	Coloboma	5080	PAX6	ORPHA:2334
HP:0000589	Coloboma	51524	TMEM138	OMIM:614465
HP:0000589	Coloboma	23314	SATB2	ORPHA:251028
HP:0000589	Coloboma	65062	TMEM237	OMIM:614424
HP:0000589	Coloboma	55624	POMGNT1	OMIM:253280
HP:0000589	Coloboma	55624	POMGNT1	ORPHA:370959
HP:0000589	Coloboma	10586	MAB21L2	OMIM:615877
HP:0000589	Coloboma	6650	CAPN15	OMIM:619318
HP:0000589	Coloboma	4893	NRAS	OMIM:163200
HP:0000589	Coloboma	3845	KRAS	OMIM:163200
HP:0000589	Coloboma	3265	HRAS	OMIM:163200
HP:0000589	Coloboma	3265	HRAS	ORPHA:2874
HP:0000589	Coloboma	23384	SPECC1L	OMIM:600251
HP:0000589	Coloboma	3190	HNRNPK	ORPHA:453504
HP:0000589	Coloboma	3190	HNRNPK	ORPHA:352665
HP:0000589	Coloboma	91147	TMEM67	OMIM:216360
HP:0000589	Coloboma	9786	KIAA0586	OMIM:616490
HP:0000589	Coloboma	29925	GMPPB	ORPHA:370959
HP:0000589	Coloboma	79147	FKRP	ORPHA:370959
HP:0000589	Coloboma	79147	FKRP	OMIM:236670
HP:0000589	Coloboma	79147	FKRP	OMIM:613153
HP:0000589	Coloboma	29954	POMT2	ORPHA:370959
HP:0000589	Coloboma	29954	POMT2	OMIM:236670
HP:0000589	Coloboma	84197	POMK	ORPHA:370959
HP:0000589	Coloboma	84197	POMK	OMIM:615249
HP:0000589	Coloboma	10585	POMT1	ORPHA:370959
HP:0000589	Coloboma	10585	POMT1	OMIM:236670
HP:0000589	Coloboma	374654	KIF7	OMIM:200990
HP:0000589	Coloboma	5130	PCYT1A	ORPHA:85167
HP:0000589	Coloboma	473	RERE	OMIM:616975
HP:0000589	Coloboma	1806	DPYD	OMIM:274270
HP:0000589	Coloboma	9158	FIBP	OMIM:617107
HP:0000589	Coloboma	80210	ARMC9	OMIM:617622
HP:0000589	Coloboma	8085	KMT2D	ORPHA:2322
HP:0000589	Coloboma	7403	KDM6A	ORPHA:2322
HP:0000589	Coloboma	79644	SRD5A3	OMIM:612379
HP:0000589	Coloboma	79644	SRD5A3	ORPHA:324737
HP:0000589	Coloboma	4286	MITF	OMIM:617306
HP:0000589	Coloboma	9573	GDF3	OMIM:613703
HP:0000589	Coloboma	55636	CHD7	ORPHA:138
HP:0000589	Coloboma	55636	CHD7	OMIM:214800
HP:0000589	Coloboma	9723	SEMA3E	ORPHA:138
HP:0000589	Coloboma	2218	FKTN	OMIM:236670
HP:0000589	Coloboma	9215	LARGE1	OMIM:236670
HP:0000589	Coloboma	9897	WASHC5	OMIM:220210
HP:0000589	Coloboma	10084	PQBP1	OMIM:309500
HP:0000589	Coloboma	79989	IFT56	OMIM:619534
HP:0000589	Coloboma	50945	TBX22	OMIM:302905
HP:0000589	Coloboma	50945	TBX22	ORPHA:921
HP:0000589	Coloboma	6469	SHH	OMIM:147250
HP:0000589	Coloboma	5015	OTX2	OMIM:610125
HP:0000589	Coloboma	23389	MED13L	OMIM:616789
HP:0000589	Coloboma	157570	ESCO2	OMIM:268300
HP:0000589	Coloboma	257	ALX3	OMIM:136760
HP:0000589	Coloboma	25942	SIN3A	ORPHA:94065
HP:0000589	Coloboma	171023	ASXL1	ORPHA:97297
HP:0000589	Coloboma	23347	SMCHD1	OMIM:603457
HP:0000589	Coloboma	652	BMP4	OMIM:607932
HP:0000589	Coloboma	22884	WDR37	OMIM:618652
HP:0000589	Coloboma	8665	EIF3F	OMIM:618295
HP:0000589	Coloboma	5147	PDE6D	OMIM:615665
HP:0000589	Coloboma	57178	ZMIZ1	OMIM:618659
HP:0000589	Coloboma	55690	PACS1	ORPHA:329224
HP:0000589	Coloboma	7020	TFAP2A	ORPHA:1297
HP:0000589	Coloboma	2301	FOXE3	OMIM:610256
HP:0000589	Coloboma	57167	SALL4	ORPHA:959
HP:0000589	Coloboma	4990	SIX6	OMIM:206900
HP:0000589	Coloboma	6657	SOX2	OMIM:206900
HP:0000589	Coloboma	4929	NR4A2	ORPHA:1617
HP:0000589	Coloboma	10716	TBR1	ORPHA:1617
HP:0000589	Coloboma	54496	PRMT7	ORPHA:464288
HP:0000589	Coloboma	1409	CRYAA	OMIM:604219
HP:0000589	Coloboma	1409	CRYAA	ORPHA:1377
HP:0000589	Coloboma	23394	ADNP	ORPHA:404448
HP:0000589	Coloboma	1859	DYRK1A	ORPHA:268261
HP:0000589	Coloboma	406987	MIR204	OMIM:616722
HP:0000589	Coloboma	2260	FGFR1	OMIM:147950
HP:0000589	Coloboma	2260	FGFR1	ORPHA:280200
HP:0000589	Coloboma	2260	FGFR1	ORPHA:2396
HP:0000589	Coloboma	4919	ROR1	OMIM:617654
HP:0000589	Coloboma	7473	WNT3	ORPHA:3301
HP:0000589	Coloboma	340419	RSPO2	ORPHA:3301
HP:0000589	Coloboma	9496	TBX4	ORPHA:3301
HP:0000589	Coloboma	2316	FLNA	OMIM:300244
HP:0000589	Coloboma	2316	FLNA	ORPHA:88630
HP:0000589	Coloboma	116931	MED12L	OMIM:618872
HP:0000589	Coloboma	26610	ELP4	OMIM:617141
HP:0000589	Coloboma	4867	NPHP1	ORPHA:220497
HP:0000589	Coloboma	1717	DHCR7	ORPHA:818
HP:0000589	Coloboma	26128	KIFBP	ORPHA:66629
HP:0000589	Coloboma	84892	POMGNT2	ORPHA:899
HP:0000589	Coloboma	148789	B3GALNT2	ORPHA:899
HP:0000589	Coloboma	1282	COL4A1	ORPHA:899
HP:0000589	Coloboma	729920	CRPPA	ORPHA:899
HP:0000589	Coloboma	10329	RXYLT1	ORPHA:899
HP:0000589	Coloboma	1605	DAG1	ORPHA:899
HP:0000589	Coloboma	11041	B4GAT1	ORPHA:899
HP:0000589	Coloboma	28514	DLL1	ORPHA:280200
HP:0000589	Coloboma	2253	FGF8	ORPHA:280200
HP:0000589	Coloboma	7050	TGIF1	ORPHA:280200
HP:0000589	Coloboma	4838	NODAL	ORPHA:280200
HP:0000589	Coloboma	51684	SUFU	ORPHA:280200
HP:0000589	Coloboma	51684	SUFU	ORPHA:475
HP:0000589	Coloboma	51684	SUFU	ORPHA:377
HP:0000589	Coloboma	7546	ZIC2	ORPHA:280200
HP:0000589	Coloboma	2619	GAS1	ORPHA:280200
HP:0000589	Coloboma	84976	DISP1	ORPHA:280200
HP:0000589	Coloboma	2736	GLI2	ORPHA:280200
HP:0000589	Coloboma	8928	FOXH1	ORPHA:280200
HP:0000589	Coloboma	6997	CRIPTO	ORPHA:280200
HP:0000589	Coloboma	5727	PTCH1	ORPHA:280200
HP:0000589	Coloboma	5727	PTCH1	OMIM:109400
HP:0000589	Coloboma	5727	PTCH1	OMIM:610828
HP:0000589	Coloboma	5727	PTCH1	ORPHA:377
HP:0000589	Coloboma	50937	CDON	ORPHA:280200
HP:0000589	Coloboma	220202	ATOH7	OMIM:221900
HP:0000589	Coloboma	5925	RB1	ORPHA:1587
HP:0000589	Coloboma	4853	NOTCH2	OMIM:102500
HP:0000589	Coloboma	4853	NOTCH2	ORPHA:955
HP:0000589	Coloboma	1063	CENPF	OMIM:243605
HP:0000589	Coloboma	2263	FGFR2	ORPHA:207
HP:0000589	Coloboma	2077	ERF	ORPHA:207
HP:0000589	Coloboma	4313	MMP2	ORPHA:371428
HP:0000589	Coloboma	4323	MMP14	ORPHA:371428
HP:0000589	Coloboma	10815	CPLX1	ORPHA:280
HP:0000589	Coloboma	10815	CPLX1	OMIM:194190
HP:0000589	Coloboma	54872	PIGG	ORPHA:280
HP:0000589	Coloboma	7469	NELFA	ORPHA:280
HP:0000589	Coloboma	1487	CTBP1	ORPHA:280
HP:0000589	Coloboma	1487	CTBP1	OMIM:194190
HP:0000589	Coloboma	3954	LETM1	ORPHA:280
HP:0000589	Coloboma	3954	LETM1	OMIM:194190
HP:0000589	Coloboma	7468	NSD2	ORPHA:280
HP:0000589	Coloboma	7468	NSD2	OMIM:194190
HP:0000589	Coloboma	338917	VSX2	OMIM:610092
HP:0000589	Coloboma	55714	TENM3	OMIM:615145
HP:0000589	Coloboma	523	ATP6V1A	OMIM:618012
HP:0000589	Coloboma	4854	NOTCH3	ORPHA:2789
HP:0000589	Coloboma	4591	TRIM37	OMIM:253250
HP:0000589	Coloboma	4036	LRP2	ORPHA:2143
HP:0000589	Coloboma	4036	LRP2	OMIM:222448
HP:0000589	Coloboma	53834	FGFRL1	OMIM:194190
HP:0000589	Coloboma	2313	FLI1	ORPHA:2308
HP:0000589	Coloboma	9851	KIAA0753	ORPHA:475
HP:0000589	Coloboma	79600	TCTN1	ORPHA:475
HP:0000589	Coloboma	79848	CSPP1	ORPHA:475
HP:0000589	Coloboma	8481	OFD1	ORPHA:475
HP:0000589	Coloboma	65250	CPLANE1	ORPHA:475
HP:0000589	Coloboma	200894	ARL13B	ORPHA:475
HP:0000589	Coloboma	9731	CEP104	ORPHA:475
HP:0000589	Coloboma	219844	HYLS1	ORPHA:475
HP:0000589	Coloboma	23247	KATNIP	ORPHA:475
HP:0000589	Coloboma	219854	TMEM218	ORPHA:475
HP:0000589	Coloboma	26123	TCTN3	ORPHA:475
HP:0000589	Coloboma	79867	TCTN2	ORPHA:475
HP:0000589	Coloboma	80776	B9D2	ORPHA:475
HP:0000589	Coloboma	10464	PIBF1	ORPHA:475
HP:0000589	Coloboma	23116	TOGARAM1	ORPHA:475
HP:0000589	Coloboma	25776	CBY1	ORPHA:475
HP:0000589	Coloboma	27077	B9D1	ORPHA:475
HP:0000589	Coloboma	403	ARL3	ORPHA:475
HP:0000589	Coloboma	80173	IFT74	ORPHA:475
HP:0000589	Coloboma	3981	LIG4	ORPHA:235
HP:0000589	Coloboma	54888	NSUN2	ORPHA:235
HP:0000589	Coloboma	157680	VPS13B	ORPHA:193
HP:0000589	Coloboma	54539	NDUFB11	OMIM:309801
HP:0000589	Coloboma	1349	COX7B	OMIM:309801
HP:0000589	Coloboma	3052	HCCS	OMIM:309801
HP:0000589	Coloboma	10908	PNPLA6	ORPHA:2377
HP:0000589	Coloboma	286	ANK1	ORPHA:251066
HP:0000589	Coloboma	85365	ALG2	ORPHA:79326
HP:0000589	Coloboma	85365	ALG2	OMIM:607906
HP:0000589	Coloboma	284252	KCTD1	OMIM:181270
HP:0000589	Coloboma	84172	POLR1B	ORPHA:861
HP:0000589	Coloboma	9533	POLR1C	ORPHA:861
HP:0000589	Coloboma	51082	POLR1D	ORPHA:861
HP:0000589	Coloboma	6949	TCOF1	ORPHA:861
HP:0000589	Coloboma	9338	TCEAL1	OMIM:301094
HP:0000589	Coloboma	7837	PXDN	OMIM:269400
HP:0000589	Coloboma	8643	PTCH2	ORPHA:377
HP:0000589	Coloboma	51360	MBTPS2	ORPHA:85284
HP:0000589	Coloboma	57479	PRR12	OMIM:619539
HP:0000589	Coloboma	4094	MAF	OMIM:610202
HP:0000589	Coloboma	4094	MAF	ORPHA:1377
HP:0000589	Coloboma	2776	GNAQ	ORPHA:3205
HP:0000589	Coloboma	10195	ALG3	OMIM:601110
HP:0000589	Coloboma	2703	GJA8	ORPHA:1377
HP:0000589	Coloboma	1413	CRYBA4	ORPHA:1377
HP:0000589	Coloboma	1415	CRYBB2	ORPHA:1377
HP:0000589	Coloboma	1414	CRYBB1	ORPHA:1377
HP:0000589	Coloboma	1420	CRYGC	ORPHA:1377
HP:0000589	Coloboma	1421	CRYGD	ORPHA:1377
HP:0000589	Coloboma	10058	ABCB6	OMIM:614497
HP:0000589	Coloboma	90952	ESAM	OMIM:620371
HP:0000589	Coloboma	64802	NMNAT1	OMIM:619260
HP:0000589	Coloboma	64802	NMNAT1	OMIM:608553
HP:0000589	Coloboma	5631	PRPS1	ORPHA:423479
HP:0000589	Coloboma	9227	LRAT	ORPHA:364055
HP:0000589	Coloboma	55812	SPATA7	ORPHA:364055
HP:0000589	Coloboma	6121	RPE65	ORPHA:364055
HP:0000589	Coloboma	167691	LCA5	ORPHA:364055
HP:0000589	Coloboma	9785	DHX38	OMIM:618220
HP:0000589	Coloboma	25974	MMACHC	ORPHA:79282
HP:0000589	Coloboma	23418	CRB1	OMIM:613835
HP:0000589	Coloboma	23291	FBXW11	OMIM:618914
HP:0000589	Coloboma	2296	FOXC1	ORPHA:250923
HP:0000589	Coloboma	54765	TRIM44	ORPHA:250923
HP:0007768	Central retinal vessel vascular tortuosity	84277	DNAJC30	OMIM:619382
HP:0007768	Central retinal vessel vascular tortuosity	85465	SELENOI	ORPHA:506353
HP:0007768	Central retinal vessel vascular tortuosity	4535	MT-ND1	OMIM:535000
HP:0007768	Central retinal vessel vascular tortuosity	4536	MT-ND2	OMIM:535000
HP:0007768	Central retinal vessel vascular tortuosity	4538	MT-ND4	OMIM:535000
HP:0007768	Central retinal vessel vascular tortuosity	4514	MT-CO3	OMIM:535000
HP:0007768	Central retinal vessel vascular tortuosity	4519	MT-CYB	OMIM:535000
HP:0007768	Central retinal vessel vascular tortuosity	4508	MT-ATP6	OMIM:535000
HP:0007768	Central retinal vessel vascular tortuosity	4540	MT-ND5	OMIM:535000
HP:0007768	Central retinal vessel vascular tortuosity	4541	MT-ND6	OMIM:535000
HP:0007768	Central retinal vessel vascular tortuosity	4539	MT-ND4L	OMIM:535000
HP:0007768	Central retinal vessel vascular tortuosity	4750	NEK1	ORPHA:2751
HP:0001350	Slurred speech	11198	SUPT16H	ORPHA:261229
HP:0001350	Slurred speech	57680	CHD8	ORPHA:261229
HP:0001350	Slurred speech	5621	PRNP	ORPHA:282166
HP:0001350	Slurred speech	5621	PRNP	ORPHA:157941
HP:0001350	Slurred speech	3752	KCND3	ORPHA:98772
HP:0001350	Slurred speech	773	CACNA1A	OMIM:183086
HP:0001350	Slurred speech	3736	KCNA1	OMIM:160120
HP:0001350	Slurred speech	3736	KCNA1	ORPHA:972
HP:0001350	Slurred speech	84894	LINGO1	OMIM:618103
HP:0001350	Slurred speech	54832	VPS13C	OMIM:616840
HP:0001350	Slurred speech	9881	TRANK1	ORPHA:33543
HP:0001350	Slurred speech	4758	NEU1	OMIM:256550
HP:0001350	Slurred speech	4758	NEU1	ORPHA:812
HP:0001350	Slurred speech	10159	ATP6AP2	ORPHA:93952
HP:0001350	Slurred speech	10159	ATP6AP2	OMIM:300423
HP:0001350	Slurred speech	6712	SPTBN2	ORPHA:98766
HP:0001350	Slurred speech	6712	SPTBN2	ORPHA:352403
HP:0001350	Slurred speech	6507	SLC1A3	ORPHA:209967
HP:0001350	Slurred speech	6507	SLC1A3	OMIM:612656
HP:0001350	Slurred speech	2581	GALC	ORPHA:206443
HP:0001350	Slurred speech	23102	TBC1D2B	OMIM:619323
HP:0001350	Slurred speech	2720	GLB1	OMIM:230650
HP:0001350	Slurred speech	472	ATM	OMIM:208900
HP:0001350	Slurred speech	8309	ACOX2	OMIM:617308
HP:0001350	Slurred speech	3708	ITPR1	OMIM:117360
HP:0001350	Slurred speech	3708	ITPR1	OMIM:206700
HP:0001350	Slurred speech	767	CA8	OMIM:613227
HP:0001350	Slurred speech	57462	MYORG	OMIM:618317
HP:0001350	Slurred speech	6310	ATXN1	ORPHA:98755
HP:0001350	Slurred speech	55129	ANO10	ORPHA:284289
HP:0001350	Slurred speech	4081	MAB21L1	ORPHA:495875
HP:0001350	Slurred speech	1512	CTSH	ORPHA:2073
HP:0001350	Slurred speech	5032	P2RY11	ORPHA:2073
HP:0001350	Slurred speech	4340	MOG	ORPHA:2073
HP:0001350	Slurred speech	3119	HLA-DQB1	ORPHA:2073
HP:0001350	Slurred speech	3060	HCRT	ORPHA:2073
HP:0001350	Slurred speech	22891	ZNF365	ORPHA:2073
HP:0001350	Slurred speech	7292	TNFSF4	ORPHA:2073
HP:0001350	Slurred speech	3123	HLA-DRB1	ORPHA:2073
HP:0001350	Slurred speech	23545	ATP6V0A2	ORPHA:2834
HP:0001350	Slurred speech	8622	PDE8B	OMIM:609161
HP:0001350	Slurred speech	55157	DARS2	ORPHA:137898
HP:0001350	Slurred speech	2146	EZH2	OMIM:277590
HP:0001350	Slurred speech	4566	MT-TK	ORPHA:1349
HP:0001350	Slurred speech	5428	POLG	OMIM:157640
HP:0001350	Slurred speech	23111	SPART	ORPHA:101000
HP:0001350	Slurred speech	6687	SPG7	OMIM:607259
HP:0001350	Slurred speech	215	ABCD1	OMIM:300100
HP:0001350	Slurred speech	6326	SCN2A	ORPHA:140927
HP:0001350	Slurred speech	3785	KCNQ2	ORPHA:140927
HP:0001350	Slurred speech	55280	CWF19L1	ORPHA:453521
HP:0001350	Slurred speech	29072	SETD2	OMIM:616831
HP:0001350	Slurred speech	23230	VPS13A	ORPHA:2388
HP:0001350	Slurred speech	22868	FASTKD2	OMIM:618855
HP:0001350	Slurred speech	2903	GRIN2A	ORPHA:98818
HP:0001350	Slurred speech	91039	DPP9	OMIM:620331
HP:0001350	Slurred speech	9829	DNAJC6	ORPHA:391411
HP:0001350	Slurred speech	5420	PODXL	ORPHA:391411
HP:0001350	Slurred speech	8867	SYNJ1	ORPHA:391411
HP:0001350	Slurred speech	55367	PIDD1	OMIM:619827
HP:0001350	Slurred speech	4137	MAPT	ORPHA:240071
HP:0001351	Jerk-locked premyoclonus spikes	401474	SAMD12	OMIM:601068
HP:0001351	Jerk-locked premyoclonus spikes	55689	YEATS2	OMIM:615127
HP:0001351	Jerk-locked premyoclonus spikes	56910	STARD7	OMIM:607876
HP:0001351	Jerk-locked premyoclonus spikes	10299	MARCHF6	OMIM:613608
HP:0003487	Babinski sign	10749	KIF1C	ORPHA:397946
HP:0003487	Babinski sign	10749	KIF1C	OMIM:611302
HP:0003487	Babinski sign	85465	SELENOI	ORPHA:506353
HP:0003487	Babinski sign	85465	SELENOI	OMIM:618768
HP:0003487	Babinski sign	3064	HTT	ORPHA:399
HP:0003487	Babinski sign	6515	SLC2A3	ORPHA:399
HP:0003487	Babinski sign	4287	ATXN3	OMIM:109150
HP:0003487	Babinski sign	4287	ATXN3	ORPHA:276238
HP:0003487	Babinski sign	4287	ATXN3	ORPHA:276244
HP:0003487	Babinski sign	4287	ATXN3	ORPHA:276241
HP:0003487	Babinski sign	26235	FBXL4	OMIM:615471
HP:0003487	Babinski sign	4099	MAG	OMIM:616680
HP:0003487	Babinski sign	4099	MAG	ORPHA:459056
HP:0003487	Babinski sign	10159	ATP6AP2	OMIM:300911
HP:0003487	Babinski sign	10159	ATP6AP2	ORPHA:93952
HP:0003487	Babinski sign	10159	ATP6AP2	OMIM:300423
HP:0003487	Babinski sign	10159	ATP6AP2	ORPHA:363654
HP:0003487	Babinski sign	9853	RUSC2	OMIM:617773
HP:0003487	Babinski sign	27247	NFU1	OMIM:620938
HP:0003487	Babinski sign	23446	SLC44A1	OMIM:618868
HP:0003487	Babinski sign	6873	TAF2	OMIM:615599
HP:0003487	Babinski sign	6873	TAF2	ORPHA:397951
HP:0003487	Babinski sign	3145	HMBS	OMIM:620704
HP:0003487	Babinski sign	2895	GRID2	OMIM:616204
HP:0003487	Babinski sign	22880	MORC2	OMIM:616688
HP:0003487	Babinski sign	22880	MORC2	OMIM:619090
HP:0003487	Babinski sign	22880	MORC2	ORPHA:466768
HP:0003487	Babinski sign	1786	DNMT1	ORPHA:314404
HP:0003487	Babinski sign	6687	SPG7	ORPHA:99013
HP:0003487	Babinski sign	6687	SPG7	OMIM:607259
HP:0003487	Babinski sign	6687	SPG7	ORPHA:35689
HP:0003487	Babinski sign	5354	PLP1	ORPHA:99015
HP:0003487	Babinski sign	5354	PLP1	ORPHA:280229
HP:0003487	Babinski sign	5354	PLP1	OMIM:312920
HP:0003487	Babinski sign	57165	GJC2	OMIM:608804
HP:0003487	Babinski sign	57165	GJC2	OMIM:613206
HP:0003487	Babinski sign	10908	PNPLA6	ORPHA:139480
HP:0003487	Babinski sign	10908	PNPLA6	OMIM:215470
HP:0003487	Babinski sign	10908	PNPLA6	OMIM:612020
HP:0003487	Babinski sign	8722	CTSF	OMIM:615362
HP:0003487	Babinski sign	1644	DDC	ORPHA:35708
HP:0003487	Babinski sign	1644	DDC	OMIM:608643
HP:0003487	Babinski sign	200205	IBA57	OMIM:616451
HP:0003487	Babinski sign	200205	IBA57	ORPHA:468661
HP:0003487	Babinski sign	10528	NOP56	OMIM:614153
HP:0003487	Babinski sign	10528	NOP56	ORPHA:276198
HP:0003487	Babinski sign	1841	DTYMK	OMIM:619847
HP:0003487	Babinski sign	2670	GFAP	OMIM:203450
HP:0003487	Babinski sign	2670	GFAP	ORPHA:363722
HP:0003487	Babinski sign	57156	TMEM63C	OMIM:619966
HP:0003487	Babinski sign	57231	SNX14	ORPHA:397709
HP:0003487	Babinski sign	57231	SNX14	OMIM:616354
HP:0003487	Babinski sign	23400	ATP13A2	ORPHA:314632
HP:0003487	Babinski sign	23400	ATP13A2	OMIM:617225
HP:0003487	Babinski sign	23400	ATP13A2	ORPHA:513436
HP:0003487	Babinski sign	23400	ATP13A2	ORPHA:306674
HP:0003487	Babinski sign	23400	ATP13A2	OMIM:606693
HP:0003487	Babinski sign	410	ARSA	ORPHA:309271
HP:0003487	Babinski sign	410	ARSA	ORPHA:309263
HP:0003487	Babinski sign	410	ARSA	OMIM:250100
HP:0003487	Babinski sign	410	ARSA	ORPHA:309256
HP:0003487	Babinski sign	5660	PSAP	ORPHA:309271
HP:0003487	Babinski sign	5660	PSAP	ORPHA:309263
HP:0003487	Babinski sign	5660	PSAP	OMIM:611721
HP:0003487	Babinski sign	5660	PSAP	ORPHA:309256
HP:0003487	Babinski sign	5660	PSAP	OMIM:249900
HP:0003487	Babinski sign	219285	SAMD9L	OMIM:159550
HP:0003487	Babinski sign	219285	SAMD9L	OMIM:619806
HP:0003487	Babinski sign	9289	ADGRG1	OMIM:606854
HP:0003487	Babinski sign	348	APOE	OMIM:607822
HP:0003487	Babinski sign	5663	PSEN1	OMIM:607822
HP:0003487	Babinski sign	7345	UCHL1	OMIM:615491
HP:0003487	Babinski sign	5832	ALDH18A1	OMIM:616586
HP:0003487	Babinski sign	5832	ALDH18A1	OMIM:601162
HP:0003487	Babinski sign	5832	ALDH18A1	ORPHA:447757
HP:0003487	Babinski sign	5832	ALDH18A1	ORPHA:447753
HP:0003487	Babinski sign	5832	ALDH18A1	ORPHA:447760
HP:0003487	Babinski sign	215	ABCD1	ORPHA:139399
HP:0003487	Babinski sign	64834	ELOVL1	OMIM:618527
HP:0003487	Babinski sign	51308	REEP2	OMIM:620606
HP:0003487	Babinski sign	51308	REEP2	OMIM:615625
HP:0003487	Babinski sign	311	ANXA11	OMIM:619733
HP:0003487	Babinski sign	311	ANXA11	ORPHA:803
HP:0003487	Babinski sign	7920	ABHD16A	OMIM:619735
HP:0003487	Babinski sign	8560	DEGS1	OMIM:618404
HP:0003487	Babinski sign	2074	ERCC6	OMIM:278800
HP:0003487	Babinski sign	343641	TGM6	ORPHA:276193
HP:0003487	Babinski sign	343641	TGM6	OMIM:613908
HP:0003487	Babinski sign	857	CAV1	OMIM:606721
HP:0003487	Babinski sign	55149	MTPAP	ORPHA:254343
HP:0003487	Babinski sign	55149	MTPAP	OMIM:613672
HP:0003487	Babinski sign	5297	PI4KA	OMIM:619621
HP:0003487	Babinski sign	55703	POLR3B	OMIM:619742
HP:0003487	Babinski sign	55703	POLR3B	OMIM:607694
HP:0003487	Babinski sign	83636	C19orf12	OMIM:614298
HP:0003487	Babinski sign	83636	C19orf12	OMIM:615043
HP:0003487	Babinski sign	5833	PCYT2	OMIM:618770
HP:0003487	Babinski sign	246243	RNASEH1	OMIM:616479
HP:0003487	Babinski sign	51271	UBAP1	OMIM:618418
HP:0003487	Babinski sign	51271	UBAP1	ORPHA:100993
HP:0003487	Babinski sign	492	ATP2B3	ORPHA:314978
HP:0003487	Babinski sign	9897	WASHC5	OMIM:603563
HP:0003487	Babinski sign	9897	WASHC5	ORPHA:100989
HP:0003487	Babinski sign	113612	CYP2U1	OMIM:615030
HP:0003487	Babinski sign	113612	CYP2U1	ORPHA:320411
HP:0003487	Babinski sign	10717	AP4B1	OMIM:614066
HP:0003487	Babinski sign	10717	AP4B1	ORPHA:280763
HP:0003487	Babinski sign	91574	MTRFR	OMIM:615035
HP:0003487	Babinski sign	91574	MTRFR	ORPHA:320375
HP:0003487	Babinski sign	51604	PIGT	OMIM:615398
HP:0003487	Babinski sign	11154	AP4S1	OMIM:614067
HP:0003487	Babinski sign	11154	AP4S1	ORPHA:280763
HP:0003487	Babinski sign	23259	DDHD2	OMIM:615033
HP:0003487	Babinski sign	54902	TTC19	OMIM:615157
HP:0003487	Babinski sign	391356	PTRHD1	OMIM:620747
HP:0003487	Babinski sign	4191	MDH2	OMIM:617339
HP:0003487	Babinski sign	23474	ETHE1	OMIM:602473
HP:0003487	Babinski sign	1615	DARS1	OMIM:615281
HP:0003487	Babinski sign	7358	UGDH	OMIM:618792
HP:0003487	Babinski sign	9474	ATG5	OMIM:617584
HP:0003487	Babinski sign	6506	SLC1A2	OMIM:617105
HP:0003487	Babinski sign	25973	PARS2	OMIM:618437
HP:0003487	Babinski sign	11160	ERLIN2	OMIM:620512
HP:0003487	Babinski sign	11160	ERLIN2	ORPHA:209951
HP:0003487	Babinski sign	11160	ERLIN2	OMIM:611225
HP:0003487	Babinski sign	11261	CHP1	OMIM:618438
HP:0003487	Babinski sign	10667	FARS2	ORPHA:466722
HP:0003487	Babinski sign	10667	FARS2	OMIM:617046
HP:0003487	Babinski sign	56652	TWNK	OMIM:271245
HP:0003487	Babinski sign	56652	TWNK	OMIM:607459
HP:0003487	Babinski sign	10280	SIGMAR1	OMIM:605726
HP:0003487	Babinski sign	23299	BICD2	OMIM:615290
HP:0003487	Babinski sign	5981	RFC1	ORPHA:504476
HP:0003487	Babinski sign	5917	RARS1	OMIM:616140
HP:0003487	Babinski sign	339855	KY	ORPHA:496689
HP:0003487	Babinski sign	2395	FXN	OMIM:229300
HP:0003487	Babinski sign	2395	FXN	ORPHA:95
HP:0003487	Babinski sign	57679	ALS2	OMIM:205100
HP:0003487	Babinski sign	57679	ALS2	OMIM:607225
HP:0003487	Babinski sign	57679	ALS2	OMIM:606353
HP:0003487	Babinski sign	6709	SPTAN1	OMIM:620528
HP:0003487	Babinski sign	6709	SPTAN1	OMIM:620538
HP:0003487	Babinski sign	9725	TMEM63A	OMIM:618688
HP:0003487	Babinski sign	10229	COQ7	OMIM:620402
HP:0003487	Babinski sign	6683	SPAST	OMIM:182601
HP:0003487	Babinski sign	6683	SPAST	ORPHA:100985
HP:0003487	Babinski sign	51062	ATL1	OMIM:182600
HP:0003487	Babinski sign	51062	ATL1	ORPHA:100984
HP:0003487	Babinski sign	6843	VAMP1	ORPHA:251282
HP:0003487	Babinski sign	57192	MCOLN1	OMIM:252650
HP:0003487	Babinski sign	5654	HTRA1	OMIM:600142
HP:0003487	Babinski sign	2512	FTL	ORPHA:157846
HP:0003487	Babinski sign	2512	FTL	OMIM:606159
HP:0003487	Babinski sign	54344	DPM3	ORPHA:263494
HP:0003487	Babinski sign	3658	IREB2	OMIM:618451
HP:0003487	Babinski sign	55280	CWF19L1	ORPHA:453521
HP:0003487	Babinski sign	2583	B4GALNT1	OMIM:609195
HP:0003487	Babinski sign	2583	B4GALNT1	ORPHA:101006
HP:0003487	Babinski sign	5277	PIGA	OMIM:301072
HP:0003487	Babinski sign	5277	PIGA	OMIM:300868
HP:0003487	Babinski sign	4001	LMNB1	ORPHA:99027
HP:0003487	Babinski sign	4001	LMNB1	OMIM:169500
HP:0003487	Babinski sign	23064	SETX	OMIM:602433
HP:0003487	Babinski sign	23064	SETX	ORPHA:64753
HP:0003487	Babinski sign	23064	SETX	ORPHA:357043
HP:0003487	Babinski sign	23111	SPART	OMIM:275900
HP:0003487	Babinski sign	23111	SPART	ORPHA:101000
HP:0003487	Babinski sign	126129	CPT1C	OMIM:616282
HP:0003487	Babinski sign	126129	CPT1C	ORPHA:444099
HP:0003487	Babinski sign	23516	SLC39A14	OMIM:617013
HP:0003487	Babinski sign	23516	SLC39A14	ORPHA:521406
HP:0003487	Babinski sign	23345	SYNE1	ORPHA:88644
HP:0003487	Babinski sign	4719	NDUFS1	OMIM:618226
HP:0003487	Babinski sign	4508	MT-ATP6	ORPHA:320360
HP:0003487	Babinski sign	4508	MT-ATP6	ORPHA:225154
HP:0003487	Babinski sign	4508	MT-ATP6	ORPHA:644
HP:0003487	Babinski sign	51117	COQ4	OMIM:620666
HP:0003487	Babinski sign	7443	VRK1	OMIM:620542
HP:0003487	Babinski sign	5428	POLG	OMIM:258450
HP:0003487	Babinski sign	5428	POLG	OMIM:607459
HP:0003487	Babinski sign	9256	TSPOAP1	ORPHA:101150
HP:0003487	Babinski sign	9256	TSPOAP1	OMIM:620456
HP:0003487	Babinski sign	7054	TH	ORPHA:101150
HP:0003487	Babinski sign	27235	COQ2	OMIM:146500
HP:0003487	Babinski sign	123606	NIPA1	OMIM:600363
HP:0003487	Babinski sign	123606	NIPA1	ORPHA:100988
HP:0003487	Babinski sign	5631	PRPS1	ORPHA:423479
HP:0003487	Babinski sign	6567	SLC16A2	OMIM:300523
HP:0003487	Babinski sign	6567	SLC16A2	ORPHA:59
HP:0003487	Babinski sign	81790	RNF170	OMIM:619686
HP:0003487	Babinski sign	81790	RNF170	OMIM:608984
HP:0003487	Babinski sign	23114	NFASC	OMIM:618356
HP:0003487	Babinski sign	5610	EIF2AK2	OMIM:619687
HP:0003487	Babinski sign	6647	SOD1	OMIM:618598
HP:0003487	Babinski sign	6647	SOD1	ORPHA:803
HP:0003487	Babinski sign	25814	ATXN10	OMIM:603516
HP:0003487	Babinski sign	25814	ATXN10	ORPHA:98761
HP:0003487	Babinski sign	116461	TSEN15	OMIM:617026
HP:0003487	Babinski sign	116461	TSEN15	ORPHA:2524
HP:0003487	Babinski sign	8492	PRSS12	OMIM:249500
HP:0003487	Babinski sign	443	ASPA	ORPHA:314918
HP:0003487	Babinski sign	443	ASPA	ORPHA:314911
HP:0003487	Babinski sign	157922	CAMSAP1	OMIM:620316
HP:0003487	Babinski sign	5010	CLDN11	OMIM:619328
HP:0003487	Babinski sign	2581	GALC	ORPHA:206448
HP:0003487	Babinski sign	25885	POLR1A	OMIM:620675
HP:0003487	Babinski sign	9179	AP4M1	OMIM:612936
HP:0003487	Babinski sign	9179	AP4M1	ORPHA:280763
HP:0003487	Babinski sign	16	AARS1	OMIM:619691
HP:0003487	Babinski sign	547	KIF1A	ORPHA:101010
HP:0003487	Babinski sign	547	KIF1A	OMIM:610357
HP:0003487	Babinski sign	547	KIF1A	OMIM:614255
HP:0003487	Babinski sign	5071	PRKN	OMIM:600116
HP:0003487	Babinski sign	84340	GFM2	ORPHA:565624
HP:0003487	Babinski sign	84340	GFM2	OMIM:618397
HP:0003487	Babinski sign	8878	SQSTM1	OMIM:617158
HP:0003487	Babinski sign	8878	SQSTM1	ORPHA:275872
HP:0003487	Babinski sign	8878	SQSTM1	ORPHA:803
HP:0003487	Babinski sign	4125	MAN2B1	OMIM:248500
HP:0003487	Babinski sign	80224	NUBPL	OMIM:618242
HP:0003487	Babinski sign	4547	MTTP	ORPHA:14
HP:0003487	Babinski sign	51102	MECR	OMIM:617282
HP:0003487	Babinski sign	5611	DNAJC3	OMIM:616192
HP:0003487	Babinski sign	5611	DNAJC3	ORPHA:445062
HP:0003487	Babinski sign	463	ZFHX3	OMIM:600223
HP:0003487	Babinski sign	80821	DDHD1	ORPHA:101008
HP:0003487	Babinski sign	80821	DDHD1	OMIM:609340
HP:0003487	Babinski sign	2705	GJB1	OMIM:302800
HP:0003487	Babinski sign	2705	GJB1	ORPHA:1175
HP:0003487	Babinski sign	1200	TPP1	OMIM:609270
HP:0003487	Babinski sign	1200	TPP1	ORPHA:284324
HP:0003487	Babinski sign	84668	HYCC1	OMIM:610532
HP:0003487	Babinski sign	29967	LRP12	OMIM:620452
HP:0003487	Babinski sign	87178	PNPT1	ORPHA:101111
HP:0003487	Babinski sign	87178	PNPT1	OMIM:608703
HP:0003487	Babinski sign	1938	EEF2	ORPHA:101112
HP:0003487	Babinski sign	9197	SLC33A1	ORPHA:171863
HP:0003487	Babinski sign	9197	SLC33A1	OMIM:612539
HP:0003487	Babinski sign	2892	GRIA3	ORPHA:364028
HP:0003487	Babinski sign	26580	BSCL2	OMIM:619112
HP:0003487	Babinski sign	26580	BSCL2	OMIM:270685
HP:0003487	Babinski sign	26580	BSCL2	ORPHA:100998
HP:0003487	Babinski sign	9927	MFN2	OMIM:609260
HP:0003487	Babinski sign	9927	MFN2	ORPHA:99947
HP:0003487	Babinski sign	3839	KPNA3	OMIM:620106
HP:0003487	Babinski sign	3839	KPNA3	ORPHA:171612
HP:0003487	Babinski sign	538	ATP7A	OMIM:309400
HP:0003487	Babinski sign	3032	HADHB	ORPHA:746
HP:0003487	Babinski sign	3030	HADHA	ORPHA:746
HP:0003487	Babinski sign	22978	NT5C2	ORPHA:320396
HP:0003487	Babinski sign	22978	NT5C2	OMIM:613162
HP:0003487	Babinski sign	5375	PMP2	OMIM:618279
HP:0003487	Babinski sign	6472	SHMT2	OMIM:619121
HP:0003487	Babinski sign	6253	RTN2	OMIM:604805
HP:0003487	Babinski sign	6253	RTN2	ORPHA:100993
HP:0003487	Babinski sign	5173	PDYN	ORPHA:101108
HP:0003487	Babinski sign	5173	PDYN	OMIM:610245
HP:0003487	Babinski sign	10939	AFG3L2	ORPHA:101109
HP:0003487	Babinski sign	10939	AFG3L2	OMIM:610246
HP:0003487	Babinski sign	79152	FA2H	ORPHA:171629
HP:0003487	Babinski sign	79152	FA2H	OMIM:612319
HP:0003487	Babinski sign	57704	GBA2	ORPHA:320391
HP:0003487	Babinski sign	57704	GBA2	OMIM:614409
HP:0003487	Babinski sign	57704	GBA2	ORPHA:352641
HP:0003487	Babinski sign	26278	SACS	OMIM:270550
HP:0003487	Babinski sign	26278	SACS	ORPHA:98
HP:0003487	Babinski sign	25978	CHMP2B	OMIM:600795
HP:0003487	Babinski sign	25978	CHMP2B	ORPHA:803
HP:0003487	Babinski sign	23636	NUP62	ORPHA:225154
HP:0003487	Babinski sign	53371	NUP54	ORPHA:225154
HP:0003487	Babinski sign	103	ADAR	ORPHA:225154
HP:0003487	Babinski sign	6389	SDHA	OMIM:619259
HP:0003487	Babinski sign	6389	SDHA	ORPHA:3208
HP:0003487	Babinski sign	6389	SDHA	OMIM:252011
HP:0003487	Babinski sign	3739	KCNA4	OMIM:618284
HP:0003487	Babinski sign	7415	VCP	OMIM:613954
HP:0003487	Babinski sign	7415	VCP	ORPHA:275872
HP:0003487	Babinski sign	7415	VCP	ORPHA:329475
HP:0003487	Babinski sign	7415	VCP	ORPHA:803
HP:0003487	Babinski sign	124454	EARS2	OMIM:614924
HP:0003487	Babinski sign	8139	GAN	ORPHA:643
HP:0003487	Babinski sign	54936	ADPRS	OMIM:618170
HP:0003487	Babinski sign	1678	TIMM8A	ORPHA:52368
HP:0003487	Babinski sign	84842	HPDL	OMIM:619027
HP:0003487	Babinski sign	25793	FBXO7	OMIM:260300
HP:0003487	Babinski sign	25793	FBXO7	ORPHA:171695
HP:0003487	Babinski sign	8398	PLA2G6	OMIM:610217
HP:0003487	Babinski sign	55129	ANO10	OMIM:613728
HP:0003487	Babinski sign	5621	PRNP	ORPHA:282166
HP:0003487	Babinski sign	2643	GCH1	OMIM:128230
HP:0003487	Babinski sign	2643	GCH1	ORPHA:98808
HP:0003487	Babinski sign	9131	AIFM1	OMIM:300232
HP:0003487	Babinski sign	9131	AIFM1	ORPHA:83629
HP:0003487	Babinski sign	8506	CNTNAP1	OMIM:618186
HP:0003487	Babinski sign	400916	CHCHD10	OMIM:615911
HP:0003487	Babinski sign	400916	CHCHD10	ORPHA:275872
HP:0003487	Babinski sign	400916	CHCHD10	ORPHA:803
HP:0003487	Babinski sign	1593	CYP27A1	OMIM:213700
HP:0003487	Babinski sign	1593	CYP27A1	ORPHA:909
HP:0003487	Babinski sign	2521	FUS	ORPHA:275872
HP:0003487	Babinski sign	2521	FUS	ORPHA:803
HP:0003487	Babinski sign	23435	TARDBP	ORPHA:275872
HP:0003487	Babinski sign	23435	TARDBP	ORPHA:803
HP:0003487	Babinski sign	23435	TARDBP	OMIM:612069
HP:0003487	Babinski sign	29110	TBK1	ORPHA:275872
HP:0003487	Babinski sign	29110	TBK1	ORPHA:803
HP:0003487	Babinski sign	54209	TREM2	OMIM:618193
HP:0003487	Babinski sign	54209	TREM2	ORPHA:803
HP:0003487	Babinski sign	51218	GLRX5	ORPHA:401866
HP:0003487	Babinski sign	51218	GLRX5	OMIM:616859
HP:0003487	Babinski sign	51506	UFC1	OMIM:618076
HP:0003487	Babinski sign	6311	ATXN2	OMIM:183090
HP:0003487	Babinski sign	6311	ATXN2	ORPHA:803
HP:0003487	Babinski sign	80055	PGAP1	OMIM:615802
HP:0003487	Babinski sign	80055	PGAP1	ORPHA:401820
HP:0003487	Babinski sign	23431	AP4E1	OMIM:613744
HP:0003487	Babinski sign	23431	AP4E1	ORPHA:280763
HP:0003487	Babinski sign	25778	DSTYK	OMIM:270750
HP:0003487	Babinski sign	51324	SPG21	OMIM:248900
HP:0003487	Babinski sign	116228	COX20	OMIM:619054
HP:0003487	Babinski sign	64207	IRF2BPL	OMIM:618088
HP:0003487	Babinski sign	55157	DARS2	ORPHA:137898
HP:0003487	Babinski sign	55157	DARS2	OMIM:611105
HP:0003487	Babinski sign	823	CAPN1	OMIM:616907
HP:0003487	Babinski sign	823	CAPN1	ORPHA:488594
HP:0003487	Babinski sign	10273	STUB1	OMIM:618093
HP:0003487	Babinski sign	10273	STUB1	OMIM:615768
HP:0003487	Babinski sign	22	ABCB7	OMIM:301310
HP:0003487	Babinski sign	100303755	PET117	OMIM:619063
HP:0003487	Babinski sign	7274	TTPA	ORPHA:96
HP:0003487	Babinski sign	4697	NDUFA4	OMIM:619065
HP:0003487	Babinski sign	65055	REEP1	OMIM:610250
HP:0003487	Babinski sign	26090	ABHD12	OMIM:612674
HP:0003487	Babinski sign	144165	PRICKLE1	OMIM:612437
HP:0003487	Babinski sign	5376	PMP22	ORPHA:3115
HP:0003487	Babinski sign	4359	MPZ	ORPHA:3115
HP:0003487	Babinski sign	1267	CNP	OMIM:619071
HP:0003487	Babinski sign	23533	PIK3R5	ORPHA:64753
HP:0003487	Babinski sign	4744	NEFH	OMIM:616924
HP:0003487	Babinski sign	4744	NEFH	ORPHA:803
HP:0003487	Babinski sign	90624	LYRM7	OMIM:615838
HP:0003487	Babinski sign	1282	COL4A1	OMIM:175780
HP:0003487	Babinski sign	64837	KLC2	OMIM:609541
HP:0003487	Babinski sign	80704	SLC19A3	OMIM:607483
HP:0003487	Babinski sign	80025	PANK2	OMIM:234200
HP:0003487	Babinski sign	11128	POLR3A	ORPHA:447896
HP:0003487	Babinski sign	11128	POLR3A	OMIM:607694
HP:0003487	Babinski sign	23503	ZFYVE26	OMIM:270700
HP:0003487	Babinski sign	23503	ZFYVE26	ORPHA:100996
HP:0003487	Babinski sign	9409	PEX16	OMIM:614877
HP:0003487	Babinski sign	773	CACNA1A	ORPHA:98758
HP:0003487	Babinski sign	8242	KDM5C	OMIM:300534
HP:0003487	Babinski sign	6390	SDHB	ORPHA:3208
HP:0003487	Babinski sign	6392	SDHD	ORPHA:3208
HP:0003487	Babinski sign	644096	SDHAF1	ORPHA:3208
HP:0003487	Babinski sign	3329	HSPD1	OMIM:605280
HP:0003487	Babinski sign	3329	HSPD1	ORPHA:100994
HP:0003487	Babinski sign	3329	HSPD1	OMIM:612233
HP:0003487	Babinski sign	3954	LETM1	OMIM:620089
HP:0003487	Babinski sign	4556	MT-TE	ORPHA:2596
HP:0003487	Babinski sign	3178	HNRNPA1	ORPHA:803
HP:0003487	Babinski sign	8148	TAF15	ORPHA:803
HP:0003487	Babinski sign	5445	PON2	ORPHA:803
HP:0003487	Babinski sign	9217	VAPB	ORPHA:803
HP:0003487	Babinski sign	5630	PRPH	ORPHA:803
HP:0003487	Babinski sign	55830	GLT8D1	ORPHA:803
HP:0003487	Babinski sign	755	CFAP410	ORPHA:803
HP:0003487	Babinski sign	10891	PPARGC1A	ORPHA:803
HP:0003487	Babinski sign	10133	OPTN	ORPHA:803
HP:0003487	Babinski sign	1639	DCTN1	ORPHA:803
HP:0003487	Babinski sign	9896	FIG4	ORPHA:803
HP:0003487	Babinski sign	5444	PON1	ORPHA:803
HP:0003487	Babinski sign	5446	PON3	ORPHA:803
HP:0003487	Babinski sign	5216	PFN1	ORPHA:803
HP:0003487	Babinski sign	9782	MATR3	ORPHA:803
HP:0003487	Babinski sign	283	ANG	ORPHA:803
HP:0003487	Babinski sign	29978	UBQLN2	ORPHA:803
HP:0003487	Babinski sign	2733	GLE1	ORPHA:803
HP:0003487	Babinski sign	4750	NEK1	ORPHA:803
HP:0003487	Babinski sign	1610	DAO	ORPHA:803
HP:0003487	Babinski sign	2066	ERBB4	ORPHA:803
HP:0003487	Babinski sign	23025	UNC13A	ORPHA:803
HP:0003487	Babinski sign	899	CCNF	ORPHA:803
HP:0003487	Babinski sign	6314	ATXN7	ORPHA:94147
HP:0003487	Babinski sign	6314	ATXN7	OMIM:164500
HP:0003487	Babinski sign	3798	KIF5A	ORPHA:100991
HP:0003487	Babinski sign	3798	KIF5A	OMIM:604187
HP:0003487	Babinski sign	6622	SNCA	ORPHA:171695
HP:0003487	Babinski sign	80207	OPA3	OMIM:258501
HP:0003487	Babinski sign	170302	ARX	OMIM:300419
HP:0003487	Babinski sign	1861	TOR1A	OMIM:128100
HP:0003487	Babinski sign	4976	OPA1	OMIM:210000
HP:0003487	Babinski sign	6310	ATXN1	OMIM:164400
HP:0003487	Babinski sign	3736	KCNA1	OMIM:160120
HP:0003487	Babinski sign	9420	CYP7B1	ORPHA:100986
HP:0003487	Babinski sign	9420	CYP7B1	OMIM:270800
HP:0003487	Babinski sign	2258	FGF13	OMIM:301058
HP:0003487	Babinski sign	9150	CTDP1	OMIM:604168
HP:0003487	Babinski sign	55187	VPS13D	OMIM:607317
HP:0003487	Babinski sign	57505	AARS2	OMIM:615889
HP:0003487	Babinski sign	84679	SLC9A7	OMIM:301024
HP:0003487	Babinski sign	10342	TFG	ORPHA:431329
HP:0003487	Babinski sign	10342	TFG	OMIM:615658
HP:0003487	Babinski sign	4204	MECP2	OMIM:300055
HP:0003487	Babinski sign	51741	WWOX	OMIM:614322
HP:0003487	Babinski sign	91137	SLC25A46	OMIM:616505
HP:0003487	Babinski sign	54463	RETREG1	OMIM:613115
HP:0003487	Babinski sign	80746	TSEN2	OMIM:612389
HP:0003487	Babinski sign	80746	TSEN2	ORPHA:2524
HP:0003487	Babinski sign	1737	DLAT	ORPHA:79244
HP:0003487	Babinski sign	80208	SPG11	OMIM:602099
HP:0003487	Babinski sign	80208	SPG11	OMIM:604360
HP:0003487	Babinski sign	80208	SPG11	OMIM:616668
HP:0003487	Babinski sign	128989	TANGO2	ORPHA:480864
HP:0003487	Babinski sign	128989	TANGO2	OMIM:616878
HP:0003487	Babinski sign	128637	TBC1D20	OMIM:615663
HP:0003487	Babinski sign	58494	JAM2	OMIM:618824
HP:0003487	Babinski sign	22948	CCT5	ORPHA:139578
HP:0003487	Babinski sign	22948	CCT5	OMIM:256840
HP:0003487	Babinski sign	4929	NR4A2	ORPHA:98808
HP:0003487	Babinski sign	3615	IMPDH2	ORPHA:98808
HP:0003487	Babinski sign	10613	ERLIN1	OMIM:615681
HP:0003487	Babinski sign	283989	TSEN54	ORPHA:2524
HP:0003487	Babinski sign	79042	TSEN34	ORPHA:2524
HP:0003487	Babinski sign	51091	SEPSECS	ORPHA:2524
HP:0003487	Babinski sign	271	AMPD2	OMIM:615686
HP:0003487	Babinski sign	57570	TRMT5	OMIM:616539
HP:0003487	Babinski sign	6509	SLC1A4	OMIM:616657
HP:0003487	Babinski sign	9215	LARGE1	OMIM:608840
HP:0003487	Babinski sign	51	ACOX1	OMIM:264470
HP:0003487	Babinski sign	3708	ITPR1	OMIM:606658
HP:0003487	Babinski sign	6513	SLC2A1	OMIM:606777
HP:0003487	Babinski sign	8913	CACNA1G	ORPHA:458803
HP:0003487	Babinski sign	8913	CACNA1G	OMIM:616795
HP:0003487	Babinski sign	29920	PYCR2	OMIM:616420
HP:0003487	Babinski sign	22943	DKK1	ORPHA:268882
HP:0003487	Babinski sign	4724	NDUFS4	OMIM:252010
HP:0003487	Babinski sign	8086	AAAS	OMIM:231550
HP:0003487	Babinski sign	51663	ZFR	ORPHA:401840
HP:0003487	Babinski sign	84706	GPT2	ORPHA:477673
HP:0003487	Babinski sign	1968	EIF2S3	OMIM:300148
HP:0003487	Babinski sign	7305	TYROBP	OMIM:221770
HP:0003487	Babinski sign	4747	NEFL	OMIM:617882
HP:0003487	Babinski sign	221927	BRAT1	OMIM:614498
HP:0003487	Babinski sign	54820	NDE1	OMIM:614019
HP:0003487	Babinski sign	9373	PLAA	OMIM:617527
HP:0006824	Cranial nerve paralysis	4359	MPZ	OMIM:618184
HP:0006824	Cranial nerve paralysis	91574	MTRFR	ORPHA:254930
HP:0006824	Cranial nerve paralysis	91574	MTRFR	OMIM:613559
HP:0006824	Cranial nerve paralysis	8506	CNTNAP1	OMIM:618186
HP:0006824	Cranial nerve paralysis	8506	CNTNAP1	OMIM:616286
HP:0006824	Cranial nerve paralysis	112	ADCY6	OMIM:616287
HP:0006824	Cranial nerve paralysis	2733	GLE1	OMIM:611890
HP:0006824	Cranial nerve paralysis	1410	CRYAB	ORPHA:399058
HP:0006824	Cranial nerve paralysis	19	ABCA1	OMIM:205400
HP:0006824	Cranial nerve paralysis	19	ABCA1	ORPHA:31150
HP:0006824	Cranial nerve paralysis	9997	SCO2	ORPHA:521411
HP:0006824	Cranial nerve paralysis	253738	EBF3	ORPHA:96148
HP:0006824	Cranial nerve paralysis	9289	ADGRG1	ORPHA:98889
HP:0006824	Cranial nerve paralysis	5297	PI4KA	ORPHA:98889
HP:0006824	Cranial nerve paralysis	27286	SRPX2	ORPHA:98889
HP:0006824	Cranial nerve paralysis	8803	SUCLA2	OMIM:612073
HP:0006824	Cranial nerve paralysis	6472	SHMT2	OMIM:619121
HP:0006824	Cranial nerve paralysis	10730	YME1L1	OMIM:617302
HP:0006824	Cranial nerve paralysis	2218	FKTN	ORPHA:370980
HP:0006824	Cranial nerve paralysis	729920	CRPPA	ORPHA:370980
HP:0006824	Cranial nerve paralysis	1760	DMPK	OMIM:160900
HP:0006824	Cranial nerve paralysis	9990	SLC12A6	OMIM:218000
HP:0006824	Cranial nerve paralysis	4649	MYO9A	ORPHA:98914
HP:0006824	Cranial nerve paralysis	1103	CHAT	ORPHA:98914
HP:0006824	Cranial nerve paralysis	6576	SLC25A1	ORPHA:98914
HP:0006824	Cranial nerve paralysis	6843	VAMP1	ORPHA:98914
HP:0006824	Cranial nerve paralysis	127833	SYT2	ORPHA:98914
HP:0006824	Cranial nerve paralysis	6572	SLC18A3	ORPHA:98914
HP:0006824	Cranial nerve paralysis	6616	SNAP25	ORPHA:98914
HP:0006824	Cranial nerve paralysis	6390	SDHB	ORPHA:97286
HP:0006824	Cranial nerve paralysis	6390	SDHB	OMIM:115310
HP:0006824	Cranial nerve paralysis	6391	SDHC	ORPHA:97286
HP:0006824	Cranial nerve paralysis	6391	SDHC	OMIM:605373
HP:0006824	Cranial nerve paralysis	6392	SDHD	ORPHA:97286
HP:0006824	Cranial nerve paralysis	6392	SDHD	OMIM:168000
HP:0006824	Cranial nerve paralysis	28962	OSTM1	ORPHA:85179
HP:0006824	Cranial nerve paralysis	10312	TCIRG1	OMIM:259700
HP:0006824	Cranial nerve paralysis	10312	TCIRG1	ORPHA:667
HP:0006824	Cranial nerve paralysis	5781	PTPN11	ORPHA:2499
HP:0006824	Cranial nerve paralysis	8314	BAP1	ORPHA:2495
HP:0006824	Cranial nerve paralysis	4771	NF2	ORPHA:2495
HP:0006824	Cranial nerve paralysis	4771	NF2	ORPHA:637
HP:0006824	Cranial nerve paralysis	6598	SMARCB1	ORPHA:2495
HP:0006824	Cranial nerve paralysis	6598	SMARCB1	ORPHA:99966
HP:0006824	Cranial nerve paralysis	5155	PDGFB	ORPHA:2495
HP:0006824	Cranial nerve paralysis	84231	TRAF7	ORPHA:2495
HP:0006824	Cranial nerve paralysis	6608	SMO	ORPHA:2495
HP:0006824	Cranial nerve paralysis	207	AKT1	ORPHA:2495
HP:0006824	Cranial nerve paralysis	5290	PIK3CA	ORPHA:2495
HP:0006824	Cranial nerve paralysis	5290	PIK3CA	ORPHA:99802
HP:0006824	Cranial nerve paralysis	7015	TERT	ORPHA:2495
HP:0006824	Cranial nerve paralysis	51684	SUFU	ORPHA:2495
HP:0006824	Cranial nerve paralysis	6605	SMARCE1	ORPHA:2495
HP:0006824	Cranial nerve paralysis	5590	PRKCZ	ORPHA:1606
HP:0006824	Cranial nerve paralysis	2563	GABRD	ORPHA:1606
HP:0006824	Cranial nerve paralysis	23013	SPEN	ORPHA:1606
HP:0006824	Cranial nerve paralysis	8510	MMP23B	ORPHA:1606
HP:0006824	Cranial nerve paralysis	7798	LUZP1	ORPHA:1606
HP:0006824	Cranial nerve paralysis	6497	SKI	ORPHA:1606
HP:0006824	Cranial nerve paralysis	10630	PDPN	ORPHA:1606
HP:0006824	Cranial nerve paralysis	3339	HSPG2	ORPHA:1606
HP:0006824	Cranial nerve paralysis	10277	UBE4B	ORPHA:1606
HP:0006824	Cranial nerve paralysis	8514	KCNAB2	ORPHA:1606
HP:0006824	Cranial nerve paralysis	473	RERE	ORPHA:1606
HP:0006824	Cranial nerve paralysis	63976	PRDM16	ORPHA:1606
HP:0006824	Cranial nerve paralysis	54897	CASZ1	ORPHA:1606
HP:0006824	Cranial nerve paralysis	1493	CTLA4	ORPHA:900
HP:0006824	Cranial nerve paralysis	26191	PTPN22	ORPHA:900
HP:0006824	Cranial nerve paralysis	3115	HLA-DPB1	ORPHA:900
HP:0006824	Cranial nerve paralysis	5657	PRTN3	ORPHA:900
HP:0006824	Cranial nerve paralysis	3113	HLA-DPA1	ORPHA:900
HP:0006824	Cranial nerve paralysis	1776	DNASE1L3	ORPHA:36412
HP:0006824	Cranial nerve paralysis	79581	SLC52A2	OMIM:614707
HP:0006824	Cranial nerve paralysis	1186	CLCN7	ORPHA:667
HP:0006824	Cranial nerve paralysis	1186	CLCN7	ORPHA:53
HP:0006824	Cranial nerve paralysis	29887	SNX10	ORPHA:667
HP:0006824	Cranial nerve paralysis	8600	TNFSF11	ORPHA:667
HP:0006824	Cranial nerve paralysis	54949	SDHAF2	OMIM:601650
HP:0006824	Cranial nerve paralysis	4221	MEN1	ORPHA:2965
HP:0006824	Cranial nerve paralysis	64072	CDH23	ORPHA:2965
HP:0006824	Cranial nerve paralysis	64072	CDH23	ORPHA:91347
HP:0006824	Cranial nerve paralysis	9049	AIP	ORPHA:2965
HP:0006824	Cranial nerve paralysis	9049	AIP	ORPHA:963
HP:0006824	Cranial nerve paralysis	1130	LYST	OMIM:214500
HP:0006824	Cranial nerve paralysis	1130	LYST	ORPHA:167
HP:0006824	Cranial nerve paralysis	6299	SALL1	ORPHA:857
HP:0006824	Cranial nerve paralysis	51339	DACT1	ORPHA:857
HP:0006824	Cranial nerve paralysis	2475	MTOR	ORPHA:99802
HP:0006824	Cranial nerve paralysis	10000	AKT3	ORPHA:99802
HP:0006824	Cranial nerve paralysis	3662	IRF4	ORPHA:3452
HP:0006824	Cranial nerve paralysis	7132	TNFRSF1A	ORPHA:32960
HP:0006824	Cranial nerve paralysis	55636	CHD7	ORPHA:138
HP:0006824	Cranial nerve paralysis	9723	SEMA3E	ORPHA:138
HP:0006824	Cranial nerve paralysis	389827	MYMK	ORPHA:1358
HP:0006824	Cranial nerve paralysis	101929726	MYMX	ORPHA:1358
HP:0006824	Cranial nerve paralysis	114548	NLRP3	ORPHA:575
HP:0006824	Cranial nerve paralysis	5980	REV3L	ORPHA:570
HP:0006824	Cranial nerve paralysis	23129	PLXND1	ORPHA:570
HP:0006824	Cranial nerve paralysis	5745	PTH1R	ORPHA:296
HP:0006824	Cranial nerve paralysis	3418	IDH2	ORPHA:296
HP:0006824	Cranial nerve paralysis	3418	IDH2	ORPHA:163634
HP:0006824	Cranial nerve paralysis	3417	IDH1	ORPHA:296
HP:0006824	Cranial nerve paralysis	3417	IDH1	ORPHA:163634
HP:0006824	Cranial nerve paralysis	22943	DKK1	ORPHA:268882
HP:0006824	Cranial nerve paralysis	672	BRCA1	ORPHA:84
HP:0006824	Cranial nerve paralysis	10459	MAD2L2	ORPHA:84
HP:0006824	Cranial nerve paralysis	7516	XRCC2	ORPHA:84
HP:0006824	Cranial nerve paralysis	29089	UBE2T	ORPHA:84
HP:0006824	Cranial nerve paralysis	675	BRCA2	ORPHA:84
HP:0006824	Cranial nerve paralysis	55120	FANCL	ORPHA:84
HP:0006824	Cranial nerve paralysis	2177	FANCD2	ORPHA:84
HP:0006824	Cranial nerve paralysis	2175	FANCA	ORPHA:84
HP:0006824	Cranial nerve paralysis	2187	FANCB	ORPHA:84
HP:0006824	Cranial nerve paralysis	2176	FANCC	ORPHA:84
HP:0006824	Cranial nerve paralysis	2178	FANCE	ORPHA:84
HP:0006824	Cranial nerve paralysis	2188	FANCF	ORPHA:84
HP:0006824	Cranial nerve paralysis	2189	FANCG	ORPHA:84
HP:0006824	Cranial nerve paralysis	5888	RAD51	ORPHA:84
HP:0006824	Cranial nerve paralysis	5889	RAD51C	ORPHA:84
HP:0006824	Cranial nerve paralysis	55159	RFWD3	ORPHA:84
HP:0006824	Cranial nerve paralysis	83990	BRIP1	ORPHA:84
HP:0006824	Cranial nerve paralysis	57697	FANCM	ORPHA:84
HP:0006824	Cranial nerve paralysis	79728	PALB2	ORPHA:84
HP:0006824	Cranial nerve paralysis	84464	SLX4	ORPHA:84
HP:0006824	Cranial nerve paralysis	2072	ERCC4	ORPHA:84
HP:0006824	Cranial nerve paralysis	55215	FANCI	ORPHA:84
HP:0006824	Cranial nerve paralysis	83550	GPR101	ORPHA:963
HP:0006824	Cranial nerve paralysis	5376	PMP22	ORPHA:640
HP:0006824	Cranial nerve paralysis	157570	ESCO2	OMIM:268300
HP:0006824	Cranial nerve paralysis	4615	MYD88	ORPHA:33226
HP:0006824	Cranial nerve paralysis	5728	PTEN	ORPHA:65285
HP:0006824	Cranial nerve paralysis	4893	NRAS	OMIM:249400
HP:0006824	Cranial nerve paralysis	91147	TMEM67	ORPHA:140976
HP:0006824	Cranial nerve paralysis	8792	TNFRSF11A	OMIM:602080
HP:0006824	Cranial nerve paralysis	3145	HMBS	ORPHA:79276
HP:0006824	Cranial nerve paralysis	113278	SLC52A3	OMIM:211530
HP:0006824	Cranial nerve paralysis	760	CA2	ORPHA:2785
HP:0006824	Cranial nerve paralysis	149233	IL23R	ORPHA:117
HP:0006824	Cranial nerve paralysis	6775	STAT4	ORPHA:117
HP:0006824	Cranial nerve paralysis	3586	IL10	ORPHA:117
HP:0006824	Cranial nerve paralysis	4210	MEFV	ORPHA:117
HP:0006824	Cranial nerve paralysis	1230	CCR1	ORPHA:117
HP:0006824	Cranial nerve paralysis	355	FAS	ORPHA:117
HP:0006824	Cranial nerve paralysis	3592	IL12A	ORPHA:117
HP:0006824	Cranial nerve paralysis	101928376	IL12A-AS1	ORPHA:117
HP:0006824	Cranial nerve paralysis	3106	HLA-B	ORPHA:117
HP:0006824	Cranial nerve paralysis	7099	TLR4	ORPHA:117
HP:0006824	Cranial nerve paralysis	3459	IFNGR1	ORPHA:117
HP:0006824	Cranial nerve paralysis	720	C4A	ORPHA:117
HP:0006824	Cranial nerve paralysis	337867	UBAC2	ORPHA:117
HP:0006824	Cranial nerve paralysis	51752	ERAP1	ORPHA:117
HP:0006824	Cranial nerve paralysis	8302	KLRC4	ORPHA:117
HP:0006824	Cranial nerve paralysis	4000	LMNA	ORPHA:2348
HP:0006824	Cranial nerve paralysis	22	ABCB7	OMIM:301310
HP:0006824	Cranial nerve paralysis	80232	WDR26	ORPHA:513456
HP:0006824	Cranial nerve paralysis	23102	TBC1D2B	ORPHA:397973
HP:0006824	Cranial nerve paralysis	128240	NAXE	OMIM:617186
HP:0006824	Cranial nerve paralysis	59341	TRPV4	OMIM:606071
HP:0006824	Cranial nerve paralysis	59341	TRPV4	OMIM:181405
HP:0006824	Cranial nerve paralysis	51244	CCDC174	OMIM:616816
HP:0006824	Cranial nerve paralysis	5660	PSAP	OMIM:610539
HP:0006824	Cranial nerve paralysis	58	ACTA1	ORPHA:97240
HP:0006824	Cranial nerve paralysis	58	ACTA1	ORPHA:171436
HP:0006824	Cranial nerve paralysis	58	ACTA1	ORPHA:171433
HP:0006824	Cranial nerve paralysis	58	ACTA1	ORPHA:171430
HP:0006824	Cranial nerve paralysis	58	ACTA1	OMIM:616852
HP:0006824	Cranial nerve paralysis	58	ACTA1	OMIM:161800
HP:0006824	Cranial nerve paralysis	50964	SOST	OMIM:269500
HP:0006824	Cranial nerve paralysis	50964	SOST	ORPHA:3416
HP:0006824	Cranial nerve paralysis	50964	SOST	ORPHA:3152
HP:0006824	Cranial nerve paralysis	274	BIN1	ORPHA:169186
HP:0006824	Cranial nerve paralysis	274	BIN1	OMIM:255200
HP:0006824	Cranial nerve paralysis	10290	SPEG	ORPHA:169186
HP:0006824	Cranial nerve paralysis	6261	RYR1	ORPHA:169186
HP:0006824	Cranial nerve paralysis	6261	RYR1	OMIM:255320
HP:0006824	Cranial nerve paralysis	6261	RYR1	ORPHA:178145
HP:0006824	Cranial nerve paralysis	6261	RYR1	ORPHA:98905
HP:0006824	Cranial nerve paralysis	7273	TTN	ORPHA:169186
HP:0006824	Cranial nerve paralysis	291	SLC25A4	ORPHA:254892
HP:0006824	Cranial nerve paralysis	291	SLC25A4	OMIM:609283
HP:0006824	Cranial nerve paralysis	5428	POLG	ORPHA:254892
HP:0006824	Cranial nerve paralysis	5428	POLG	OMIM:258450
HP:0006824	Cranial nerve paralysis	5428	POLG	ORPHA:254886
HP:0006824	Cranial nerve paralysis	5428	POLG	OMIM:157640
HP:0006824	Cranial nerve paralysis	56652	TWNK	ORPHA:254892
HP:0006824	Cranial nerve paralysis	11232	POLG2	ORPHA:254892
HP:0006824	Cranial nerve paralysis	11232	POLG2	OMIM:610131
HP:0006824	Cranial nerve paralysis	50484	RRM2B	ORPHA:254892
HP:0006824	Cranial nerve paralysis	22827	PUF60	ORPHA:508498
HP:0006824	Cranial nerve paralysis	55906	ZC4H2	OMIM:301041
HP:0006824	Cranial nerve paralysis	55906	ZC4H2	OMIM:314580
HP:0006824	Cranial nerve paralysis	1145	CHRNE	OMIM:608931
HP:0006824	Cranial nerve paralysis	1145	CHRNE	ORPHA:98913
HP:0006824	Cranial nerve paralysis	2673	GFPT1	OMIM:608931
HP:0006824	Cranial nerve paralysis	2673	GFPT1	ORPHA:353327
HP:0006824	Cranial nerve paralysis	2673	GFPT1	OMIM:610542
HP:0006824	Cranial nerve paralysis	1291	COL6A1	OMIM:254090
HP:0006824	Cranial nerve paralysis	1144	CHRND	OMIM:616322
HP:0006824	Cranial nerve paralysis	1144	CHRND	OMIM:616323
HP:0006824	Cranial nerve paralysis	1144	CHRND	ORPHA:98913
HP:0006824	Cranial nerve paralysis	2138	EYA1	OMIM:113650
HP:0006824	Cranial nerve paralysis	2138	EYA1	ORPHA:107
HP:0006824	Cranial nerve paralysis	2138	EYA1	ORPHA:52429
HP:0006824	Cranial nerve paralysis	6495	SIX1	OMIM:113650
HP:0006824	Cranial nerve paralysis	6495	SIX1	ORPHA:107
HP:0006824	Cranial nerve paralysis	6495	SIX1	ORPHA:52429
HP:0006824	Cranial nerve paralysis	56203	LMOD3	OMIM:616165
HP:0006824	Cranial nerve paralysis	56203	LMOD3	ORPHA:171436
HP:0006824	Cranial nerve paralysis	56203	LMOD3	ORPHA:171430
HP:0006824	Cranial nerve paralysis	2697	GJA1	ORPHA:1522
HP:0006824	Cranial nerve paralysis	2697	GJA1	OMIM:218400
HP:0006824	Cranial nerve paralysis	56172	ANKH	ORPHA:1522
HP:0006824	Cranial nerve paralysis	56172	ANKH	OMIM:123000
HP:0006824	Cranial nerve paralysis	1305	COL13A1	OMIM:616720
HP:0006824	Cranial nerve paralysis	1305	COL13A1	ORPHA:98913
HP:0006824	Cranial nerve paralysis	23394	ADNP	OMIM:615873
HP:0006824	Cranial nerve paralysis	400916	CHCHD10	OMIM:616209
HP:0006824	Cranial nerve paralysis	4038	LRP4	OMIM:614305
HP:0006824	Cranial nerve paralysis	4038	LRP4	ORPHA:98913
HP:0006824	Cranial nerve paralysis	4038	LRP4	ORPHA:3152
HP:0006824	Cranial nerve paralysis	7415	VCP	OMIM:167320
HP:0006824	Cranial nerve paralysis	1134	CHRNA1	OMIM:608930
HP:0006824	Cranial nerve paralysis	1134	CHRNA1	ORPHA:98913
HP:0006824	Cranial nerve paralysis	4747	NEFL	OMIM:607684
HP:0006824	Cranial nerve paralysis	825	CAPN3	OMIM:253600
HP:0006824	Cranial nerve paralysis	57167	SALL4	OMIM:607323
HP:0006824	Cranial nerve paralysis	10049	DNAJB6	OMIM:603511
HP:0006824	Cranial nerve paralysis	1120	CHKB	OMIM:602541
HP:0006824	Cranial nerve paralysis	57165	GJC2	OMIM:608804
HP:0006824	Cranial nerve paralysis	7169	TPM2	ORPHA:171436
HP:0006824	Cranial nerve paralysis	7169	TPM2	ORPHA:171881
HP:0006824	Cranial nerve paralysis	4703	NEB	ORPHA:171436
HP:0006824	Cranial nerve paralysis	4703	NEB	ORPHA:171433
HP:0006824	Cranial nerve paralysis	4703	NEB	ORPHA:171430
HP:0006824	Cranial nerve paralysis	10324	KLHL41	ORPHA:171436
HP:0006824	Cranial nerve paralysis	10324	KLHL41	ORPHA:171433
HP:0006824	Cranial nerve paralysis	10324	KLHL41	ORPHA:171430
HP:0006824	Cranial nerve paralysis	1073	CFL2	ORPHA:171436
HP:0006824	Cranial nerve paralysis	60482	SLC5A7	OMIM:617143
HP:0006824	Cranial nerve paralysis	7084	TK2	ORPHA:254886
HP:0006824	Cranial nerve paralysis	92667	MGME1	OMIM:615084
HP:0006824	Cranial nerve paralysis	7170	TPM3	ORPHA:171433
HP:0006824	Cranial nerve paralysis	7170	TPM3	ORPHA:171881
HP:0006824	Cranial nerve paralysis	7170	TPM3	OMIM:255310
HP:0006824	Cranial nerve paralysis	29998	BICRA	OMIM:619325
HP:0006824	Cranial nerve paralysis	131377	KLHL40	ORPHA:171430
HP:0006824	Cranial nerve paralysis	131377	KLHL40	OMIM:615348
HP:0006824	Cranial nerve paralysis	9790	BMS1	ORPHA:1114
HP:0006824	Cranial nerve paralysis	5339	PLEC	ORPHA:1114
HP:0006824	Cranial nerve paralysis	10054	UBA2	ORPHA:1114
HP:0006824	Cranial nerve paralysis	3691	ITGB4	ORPHA:1114
HP:0006824	Cranial nerve paralysis	54567	DLL4	ORPHA:1114
HP:0006824	Cranial nerve paralysis	4041	LRP5	ORPHA:3416
HP:0006824	Cranial nerve paralysis	4041	LRP5	ORPHA:2790
HP:0006824	Cranial nerve paralysis	4041	LRP5	ORPHA:178377
HP:0006824	Cranial nerve paralysis	84466	MEGF10	OMIM:614399
HP:0006824	Cranial nerve paralysis	3908	LAMA2	ORPHA:258
HP:0006824	Cranial nerve paralysis	4625	MYH7	OMIM:160500
HP:0006824	Cranial nerve paralysis	29925	GMPPB	ORPHA:353327
HP:0006824	Cranial nerve paralysis	29925	GMPPB	ORPHA:370968
HP:0006824	Cranial nerve paralysis	1798	DPAGT1	ORPHA:353327
HP:0006824	Cranial nerve paralysis	85365	ALG2	ORPHA:353327
HP:0006824	Cranial nerve paralysis	199857	ALG14	ORPHA:353327
HP:0006824	Cranial nerve paralysis	427	ASAH1	OMIM:159950
HP:0006824	Cranial nerve paralysis	79147	FKRP	ORPHA:370968
HP:0006824	Cranial nerve paralysis	79147	FKRP	OMIM:606612
HP:0006824	Cranial nerve paralysis	29954	POMT2	ORPHA:370968
HP:0006824	Cranial nerve paralysis	29954	POMT2	OMIM:613156
HP:0006824	Cranial nerve paralysis	9215	LARGE1	ORPHA:370968
HP:0006824	Cranial nerve paralysis	9215	LARGE1	OMIM:608840
HP:0006824	Cranial nerve paralysis	10585	POMT1	ORPHA:370968
HP:0006824	Cranial nerve paralysis	10585	POMT1	OMIM:613155
HP:0006824	Cranial nerve paralysis	57190	SELENON	OMIM:602771
HP:0006824	Cranial nerve paralysis	51816	ADA2	OMIM:182410
HP:0006824	Cranial nerve paralysis	10735	STAG2	OMIM:301022
HP:0006824	Cranial nerve paralysis	2483	FRG1	OMIM:158900
HP:0006824	Cranial nerve paralysis	23347	SMCHD1	OMIM:158901
HP:0006824	Cranial nerve paralysis	8878	SQSTM1	OMIM:617158
HP:0006824	Cranial nerve paralysis	84665	MYPN	ORPHA:171881
HP:0006824	Cranial nerve paralysis	84665	MYPN	OMIM:617336
HP:0006824	Cranial nerve paralysis	10381	TUBB3	OMIM:600638
HP:0006824	Cranial nerve paralysis	22954	TRIM32	OMIM:254110
HP:0006824	Cranial nerve paralysis	56244	BTNL2	OMIM:612387
HP:0006824	Cranial nerve paralysis	56244	BTNL2	ORPHA:797
HP:0006824	Cranial nerve paralysis	29967	LRP12	OMIM:164310
HP:0006824	Cranial nerve paralysis	1292	COL6A2	OMIM:255600
HP:0006824	Cranial nerve paralysis	10020	GNE	ORPHA:602
HP:0006824	Cranial nerve paralysis	7020	TFAP2A	OMIM:113620
HP:0006824	Cranial nerve paralysis	51651	PTRH2	ORPHA:456312
HP:0006824	Cranial nerve paralysis	1303	COL12A1	OMIM:616470
HP:0006824	Cranial nerve paralysis	7317	UBA1	OMIM:301830
HP:0006824	Cranial nerve paralysis	390594	KBTBD13	OMIM:609273
HP:0006824	Cranial nerve paralysis	139285	AMER1	ORPHA:2780
HP:0006824	Cranial nerve paralysis	139285	AMER1	OMIM:300373
HP:0006824	Cranial nerve paralysis	9531	BAG3	OMIM:612954
HP:0006824	Cranial nerve paralysis	9244	CRLF1	OMIM:272430
HP:0006824	Cranial nerve paralysis	3123	HLA-DRB1	ORPHA:797
HP:0006824	Cranial nerve paralysis	84617	TUBB6	OMIM:617732
HP:0006824	Cranial nerve paralysis	9791	PTDSS1	ORPHA:2658
HP:0006824	Cranial nerve paralysis	3211	HOXB1	OMIM:614744
HP:0006824	Cranial nerve paralysis	4534	MTM1	OMIM:310400
HP:0006824	Cranial nerve paralysis	7040	TGFB1	ORPHA:1328
HP:0006824	Cranial nerve paralysis	8085	KMT2D	OMIM:620186
HP:0006824	Cranial nerve paralysis	80704	SLC19A3	OMIM:607483
HP:0006824	Cranial nerve paralysis	147912	SIX5	ORPHA:107
HP:0006824	Cranial nerve paralysis	8898	MTMR2	OMIM:601382
HP:0006824	Cranial nerve paralysis	64419	MTMR14	OMIM:160150
HP:0006824	Cranial nerve paralysis	1785	DNM2	OMIM:160150
HP:0006824	Cranial nerve paralysis	2934	GSN	ORPHA:85448
HP:0006824	Cranial nerve paralysis	23095	KIF1B	OMIM:118210
HP:0006824	Cranial nerve paralysis	1674	DES	OMIM:601419
HP:0006824	Cranial nerve paralysis	8292	COLQ	ORPHA:98915
HP:0006824	Cranial nerve paralysis	3913	LAMB2	ORPHA:98915
HP:0006824	Cranial nerve paralysis	6444	SGCD	ORPHA:219
HP:0006824	Cranial nerve paralysis	23516	SLC39A14	OMIM:144755
HP:0006824	Cranial nerve paralysis	8106	PABPN1	OMIM:164300
HP:0006824	Cranial nerve paralysis	6329	SCN4A	ORPHA:98913
HP:0006824	Cranial nerve paralysis	1140	CHRNB1	ORPHA:98913
HP:0006824	Cranial nerve paralysis	1140	CHRNB1	OMIM:616313
HP:0006824	Cranial nerve paralysis	4593	MUSK	ORPHA:98913
HP:0006824	Cranial nerve paralysis	5913	RAPSN	ORPHA:98913
HP:0006824	Cranial nerve paralysis	375790	AGRN	ORPHA:98913
HP:0006824	Cranial nerve paralysis	221264	AK9	ORPHA:98913
HP:0006824	Cranial nerve paralysis	285489	DOK7	ORPHA:98913
HP:0006824	Cranial nerve paralysis	55670	PEX26	ORPHA:772
HP:0006824	Cranial nerve paralysis	5824	PEX19	ORPHA:772
HP:0006824	Cranial nerve paralysis	5828	PEX2	ORPHA:772
HP:0006824	Cranial nerve paralysis	8504	PEX3	ORPHA:772
HP:0006824	Cranial nerve paralysis	9409	PEX16	ORPHA:772
HP:0006824	Cranial nerve paralysis	5190	PEX6	ORPHA:772
HP:0006824	Cranial nerve paralysis	8799	PEX11B	ORPHA:772
HP:0006824	Cranial nerve paralysis	5830	PEX5	ORPHA:772
HP:0006824	Cranial nerve paralysis	5189	PEX1	ORPHA:772
HP:0006824	Cranial nerve paralysis	5193	PEX12	ORPHA:772
HP:0006824	Cranial nerve paralysis	5194	PEX13	ORPHA:772
HP:0006824	Cranial nerve paralysis	5195	PEX14	ORPHA:772
HP:0006824	Cranial nerve paralysis	5192	PEX10	ORPHA:772
HP:0006824	Cranial nerve paralysis	339855	KY	OMIM:617114
HP:0006824	Cranial nerve paralysis	84168	ANTXR1	OMIM:230740
HP:0006824	Cranial nerve paralysis	57731	SPTBN4	OMIM:617519
HP:0006824	Cranial nerve paralysis	64127	NOD2	ORPHA:90340
HP:0006824	Cranial nerve paralysis	8139	GAN	ORPHA:643
HP:0006824	Cranial nerve paralysis	8139	GAN	OMIM:256850
HP:0006824	Cranial nerve paralysis	79628	SH3TC2	OMIM:601596
HP:0006824	Cranial nerve paralysis	4633	MYL2	OMIM:619424
HP:0006824	Cranial nerve paralysis	203859	ANO5	OMIM:611307
HP:0006824	Cranial nerve paralysis	203859	ANO5	ORPHA:206549
HP:0006824	Cranial nerve paralysis	1861	TOR1A	OMIM:128100
HP:0006824	Cranial nerve paralysis	9935	MAFB	ORPHA:233
HP:0006824	Cranial nerve paralysis	1123	CHN1	ORPHA:233
HP:0006824	Cranial nerve paralysis	54658	UGT1A1	ORPHA:79234
HP:0006824	Cranial nerve paralysis	55901	THSD1	ORPHA:231160
HP:0006824	Cranial nerve paralysis	7049	TGFBR3	ORPHA:231160
HP:0006824	Cranial nerve paralysis	1281	COL3A1	ORPHA:231160
HP:0006824	Cranial nerve paralysis	83854	ANGPTL6	ORPHA:231160
HP:0006824	Cranial nerve paralysis	2022	ENG	ORPHA:231160
HP:0006824	Cranial nerve paralysis	11198	SUPT16H	OMIM:619480
HP:0006824	Cranial nerve paralysis	3098	HK1	OMIM:618547
HP:0006824	Cranial nerve paralysis	3708	ITPR1	OMIM:117360
HP:0006824	Cranial nerve paralysis	23345	SYNE1	ORPHA:319332
HP:0002315	Headache	94	ACVRL1	OMIM:600376
HP:0002315	Headache	94	ACVRL1	ORPHA:774
HP:0002315	Headache	56652	TWNK	ORPHA:254892
HP:0002315	Headache	56652	TWNK	ORPHA:70595
HP:0002315	Headache	56652	TWNK	OMIM:271245
HP:0002315	Headache	56652	TWNK	OMIM:607459
HP:0002315	Headache	50484	RRM2B	ORPHA:254892
HP:0002315	Headache	50484	RRM2B	ORPHA:329336
HP:0002315	Headache	25970	SH2B1	ORPHA:261222
HP:0002315	Headache	4558	MT-TF	ORPHA:550
HP:0002315	Headache	4558	MT-TF	OMIM:540000
HP:0002315	Headache	4572	MT-TQ	ORPHA:550
HP:0002315	Headache	4572	MT-TQ	OMIM:540000
HP:0002315	Headache	4512	MT-CO1	ORPHA:550
HP:0002315	Headache	4512	MT-CO1	OMIM:540000
HP:0002315	Headache	4513	MT-CO2	ORPHA:550
HP:0002315	Headache	4513	MT-CO2	OMIM:540000
HP:0002315	Headache	4514	MT-CO3	ORPHA:550
HP:0002315	Headache	4514	MT-CO3	OMIM:540000
HP:0002315	Headache	4578	MT-TW	ORPHA:550
HP:0002315	Headache	4578	MT-TW	OMIM:540000
HP:0002315	Headache	4540	MT-ND5	ORPHA:550
HP:0002315	Headache	4540	MT-ND5	OMIM:540000
HP:0002315	Headache	4541	MT-ND6	ORPHA:550
HP:0002315	Headache	4541	MT-ND6	OMIM:540000
HP:0002315	Headache	4535	MT-ND1	ORPHA:550
HP:0002315	Headache	4535	MT-ND1	OMIM:540000
HP:0002315	Headache	4538	MT-ND4	ORPHA:550
HP:0002315	Headache	4567	MT-TL1	ORPHA:550
HP:0002315	Headache	4567	MT-TL1	OMIM:540000
HP:0002315	Headache	4574	MT-TS1	ORPHA:550
HP:0002315	Headache	4574	MT-TS1	OMIM:540000
HP:0002315	Headache	4575	MT-TS2	ORPHA:550
HP:0002315	Headache	4575	MT-TS2	OMIM:540000
HP:0002315	Headache	4564	MT-TH	ORPHA:550
HP:0002315	Headache	2811	GP1BA	ORPHA:274
HP:0002315	Headache	2812	GP1BB	ORPHA:274
HP:0002315	Headache	2815	GP9	ORPHA:274
HP:0002315	Headache	246243	RNASEH1	ORPHA:329336
HP:0002315	Headache	79903	NAA60	OMIM:620786
HP:0002315	Headache	23600	AMACR	OMIM:614307
HP:0002315	Headache	23600	AMACR	ORPHA:79095
HP:0002315	Headache	4072	EPCAM	ORPHA:144
HP:0002315	Headache	4292	MLH1	ORPHA:144
HP:0002315	Headache	5395	PMS2	ORPHA:144
HP:0002315	Headache	7048	TGFBR2	ORPHA:144
HP:0002315	Headache	3845	KRAS	ORPHA:144
HP:0002315	Headache	2956	MSH6	ORPHA:144
HP:0002315	Headache	5378	PMS1	ORPHA:144
HP:0002315	Headache	4436	MSH2	ORPHA:144
HP:0002315	Headache	64218	SEMA4A	ORPHA:440437
HP:0002315	Headache	472	ATM	ORPHA:440437
HP:0002315	Headache	5426	POLE	ORPHA:440437
HP:0002315	Headache	675	BRCA2	ORPHA:440437
HP:0002315	Headache	657	BMPR1A	ORPHA:440437
HP:0002315	Headache	6224	RPS20	ORPHA:440437
HP:0002315	Headache	4595	MUTYH	ORPHA:440437
HP:0002315	Headache	5424	POLD1	ORPHA:440437
HP:0002315	Headache	11200	CHEK2	ORPHA:440437
HP:0002315	Headache	3350	HTR1A	OMIM:614674
HP:0002315	Headache	5159	PDGFRB	OMIM:615007
HP:0002315	Headache	10059	DNM1L	ORPHA:98673
HP:0002315	Headache	4976	OPA1	ORPHA:98673
HP:0002315	Headache	4976	OPA1	ORPHA:1215
HP:0002315	Headache	4519	MT-CYB	OMIM:540000
HP:0002315	Headache	4511	MT-TC	OMIM:540000
HP:0002315	Headache	4577	MT-TV	OMIM:540000
HP:0002315	Headache	4566	MT-TK	OMIM:540000
HP:0002315	Headache	2022	ENG	OMIM:187300
HP:0002315	Headache	2022	ENG	ORPHA:774
HP:0002315	Headache	182	JAG1	OMIM:619574
HP:0002315	Headache	11145	PLAAT3	OMIM:620683
HP:0002315	Headache	1281	COL3A1	ORPHA:286
HP:0002315	Headache	58472	SQOR	OMIM:619221
HP:0002315	Headache	92949	ADAMTSL1	ORPHA:521445
HP:0002315	Headache	65998	ZFTA	ORPHA:251636
HP:0002315	Headache	5230	PGK1	ORPHA:713
HP:0002315	Headache	5230	PGK1	OMIM:300653
HP:0002315	Headache	112476	PRRT2	OMIM:605751
HP:0002315	Headache	112476	PRRT2	ORPHA:98809
HP:0002315	Headache	80216	ALPK1	OMIM:614979
HP:0002315	Headache	10528	NOP56	ORPHA:276198
HP:0002315	Headache	4854	NOTCH3	OMIM:125310
HP:0002315	Headache	4854	NOTCH3	ORPHA:136
HP:0002315	Headache	1282	COL4A1	OMIM:175780
HP:0002315	Headache	4784	NFIX	ORPHA:420179
HP:0002315	Headache	8405	SPOP	OMIM:618829
HP:0002315	Headache	56910	STARD7	OMIM:607876
HP:0002315	Headache	9508	ADAMTS3	OMIM:618154
HP:0002315	Headache	6786	STIM1	OMIM:185070
HP:0002315	Headache	57462	MYORG	OMIM:618317
HP:0002315	Headache	2658	GDF2	ORPHA:774
HP:0002315	Headache	4089	SMAD4	ORPHA:774
HP:0002315	Headache	1512	CTSH	ORPHA:2073
HP:0002315	Headache	5032	P2RY11	ORPHA:2073
HP:0002315	Headache	4340	MOG	ORPHA:2073
HP:0002315	Headache	3119	HLA-DQB1	ORPHA:2073
HP:0002315	Headache	3060	HCRT	ORPHA:2073
HP:0002315	Headache	22891	ZNF365	ORPHA:2073
HP:0002315	Headache	7292	TNFSF4	ORPHA:2073
HP:0002315	Headache	1315	COPB1	OMIM:619255
HP:0002315	Headache	340024	SLC6A19	ORPHA:2116
HP:0002315	Headache	57393	CLTRN	ORPHA:2116
HP:0002315	Headache	4087	SMAD2	OMIM:619656
HP:0002315	Headache	54148	MRPL39	OMIM:620646
HP:0002315	Headache	8799	PEX11B	OMIM:614920
HP:0002315	Headache	2624	GATA2	ORPHA:228423
HP:0002315	Headache	27286	SRPX2	ORPHA:1945
HP:0002315	Headache	2903	GRIN2A	ORPHA:1945
HP:0002315	Headache	2566	GABRG2	ORPHA:1945
HP:0002315	Headache	4693	NDP	ORPHA:649
HP:0002315	Headache	84978	FRMD5	OMIM:620094
HP:0002315	Headache	197322	ACSF3	ORPHA:289504
HP:0002315	Headache	4615	MYD88	ORPHA:33226
HP:0002315	Headache	5649	RELN	ORPHA:101046
HP:0002315	Headache	9211	LGI1	ORPHA:101046
HP:0002315	Headache	9681	DEPDC5	ORPHA:101046
HP:0002315	Headache	1453	CSNK1D	OMIM:615224
HP:0002315	Headache	1909	EDNRA	OMIM:157300
HP:0002315	Headache	2099	ESR1	OMIM:157300
HP:0002315	Headache	7124	TNF	OMIM:157300
HP:0002315	Headache	338567	KCNK18	OMIM:613656
HP:0002315	Headache	6323	SCN1A	OMIM:609634
HP:0002315	Headache	6323	SCN1A	ORPHA:569
HP:0002315	Headache	50964	SOST	OMIM:269500
HP:0002315	Headache	50964	SOST	OMIM:122860
HP:0002315	Headache	26191	PTPN22	ORPHA:397
HP:0002315	Headache	26191	PTPN22	ORPHA:900
HP:0002315	Headache	26191	PTPN22	ORPHA:3437
HP:0002315	Headache	3106	HLA-B	ORPHA:397
HP:0002315	Headache	3106	HLA-B	ORPHA:117
HP:0002315	Headache	3106	HLA-B	ORPHA:3287
HP:0002315	Headache	3123	HLA-DRB1	ORPHA:397
HP:0002315	Headache	8974	P4HA2	ORPHA:397
HP:0002315	Headache	4352	MPL	ORPHA:71493
HP:0002315	Headache	4352	MPL	ORPHA:3318
HP:0002315	Headache	7066	THPO	ORPHA:71493
HP:0002315	Headache	3717	JAK2	ORPHA:71493
HP:0002315	Headache	3717	JAK2	ORPHA:729
HP:0002315	Headache	3717	JAK2	OMIM:133100
HP:0002315	Headache	3717	JAK2	ORPHA:3318
HP:0002315	Headache	355	FAS	ORPHA:3261
HP:0002315	Headache	355	FAS	ORPHA:3437
HP:0002315	Headache	355	FAS	ORPHA:117
HP:0002315	Headache	356	FASLG	ORPHA:3261
HP:0002315	Headache	843	CASP10	ORPHA:3261
HP:0002315	Headache	4524	MTHFR	ORPHA:395
HP:0002315	Headache	7428	VHL	OMIM:263400
HP:0002315	Headache	7428	VHL	ORPHA:892
HP:0002315	Headache	51102	MECR	ORPHA:508093
HP:0002315	Headache	51102	MECR	OMIM:620629
HP:0002315	Headache	114548	NLRP3	OMIM:617772
HP:0002315	Headache	114548	NLRP3	ORPHA:47045
HP:0002315	Headache	114548	NLRP3	OMIM:191900
HP:0002315	Headache	114548	NLRP3	OMIM:120100
HP:0002315	Headache	85446	ZFHX2	OMIM:147430
HP:0002315	Headache	4598	MVK	OMIM:260920
HP:0002315	Headache	171023	ASXL1	ORPHA:98849
HP:0002315	Headache	54790	TET2	ORPHA:98849
HP:0002315	Headache	54790	TET2	ORPHA:3318
HP:0002315	Headache	3815	KIT	ORPHA:98849
HP:0002315	Headache	3815	KIT	ORPHA:79455
HP:0002315	Headache	6427	SRSF2	ORPHA:98849
HP:0002315	Headache	324	APC	ORPHA:99818
HP:0002315	Headache	9881	TRANK1	ORPHA:33543
HP:0002315	Headache	51816	ADA2	ORPHA:820
HP:0002315	Headache	51816	ADA2	OMIM:182410
HP:0002315	Headache	51816	ADA2	OMIM:615688
HP:0002315	Headache	5428	POLG	ORPHA:94125
HP:0002315	Headache	79577	CDC73	ORPHA:143
HP:0002315	Headache	79577	CDC73	ORPHA:99880
HP:0002315	Headache	4210	MEFV	OMIM:249100
HP:0002315	Headache	4210	MEFV	ORPHA:117
HP:0002315	Headache	4221	MEN1	ORPHA:2965
HP:0002315	Headache	4221	MEN1	ORPHA:652
HP:0002315	Headache	64072	CDH23	ORPHA:2965
HP:0002315	Headache	64072	CDH23	ORPHA:96253
HP:0002315	Headache	64072	CDH23	ORPHA:91347
HP:0002315	Headache	9049	AIP	ORPHA:2965
HP:0002315	Headache	9049	AIP	ORPHA:963
HP:0002315	Headache	7040	TGFB1	OMIM:131300
HP:0002315	Headache	9692	PRORP	OMIM:619737
HP:0002315	Headache	7132	TNFRSF1A	OMIM:142680
HP:0002315	Headache	5921	RASA1	ORPHA:90307
HP:0002315	Headache	5921	RASA1	ORPHA:137667
HP:0002315	Headache	129607	CMPK2	OMIM:621018
HP:0002315	Headache	6513	SLC2A1	OMIM:601042
HP:0002315	Headache	6513	SLC2A1	ORPHA:71277
HP:0002315	Headache	6513	SLC2A1	ORPHA:53583
HP:0002315	Headache	83550	GPR101	ORPHA:963
HP:0002315	Headache	83550	GPR101	OMIM:300942
HP:0002315	Headache	7276	TTR	OMIM:105210
HP:0002315	Headache	1277	COL1A1	ORPHA:287
HP:0002315	Headache	1289	COL5A1	ORPHA:287
HP:0002315	Headache	1290	COL5A2	ORPHA:287
HP:0002315	Headache	1175	AP2S1	OMIM:600740
HP:0002315	Headache	57190	SELENON	ORPHA:2020
HP:0002315	Headache	58	ACTA1	ORPHA:2020
HP:0002315	Headache	4633	MYL2	ORPHA:2020
HP:0002315	Headache	3679	ITGA7	ORPHA:2020
HP:0002315	Headache	7169	TPM2	ORPHA:2020
HP:0002315	Headache	9200	HACD1	ORPHA:2020
HP:0002315	Headache	7170	TPM3	ORPHA:2020
HP:0002315	Headache	51776	MAP3K20	ORPHA:2020
HP:0002315	Headache	6326	SCN2A	ORPHA:140927
HP:0002315	Headache	3785	KCNQ2	ORPHA:140927
HP:0002315	Headache	4763	NF1	ORPHA:363700
HP:0002315	Headache	4763	NF1	ORPHA:97685
HP:0002315	Headache	776	CACNA1D	ORPHA:369929
HP:0002315	Headache	5979	RET	OMIM:171400
HP:0002315	Headache	54805	CNNM2	OMIM:613882
HP:0002315	Headache	2783	GNB2	OMIM:619503
HP:0002315	Headache	4853	NOTCH2	ORPHA:955
HP:0002315	Headache	54	ACP5	ORPHA:1855
HP:0002315	Headache	2313	FLI1	ORPHA:370348
HP:0002315	Headache	1499	CTNNB1	ORPHA:54595
HP:0002315	Headache	673	BRAF	ORPHA:54595
HP:0002315	Headache	673	BRAF	ORPHA:96253
HP:0002315	Headache	673	BRAF	ORPHA:626
HP:0002315	Headache	10019	SH2B3	OMIM:133100
HP:0002315	Headache	10019	SH2B3	ORPHA:3318
HP:0002315	Headache	2057	EPOR	OMIM:133100
HP:0002315	Headache	2057	EPOR	ORPHA:90042
HP:0002315	Headache	1727	CYB5R3	OMIM:250800
HP:0002315	Headache	51604	PIGT	OMIM:615399
HP:0002315	Headache	2321	FLT1	ORPHA:275555
HP:0002315	Headache	219736	STOX1	ORPHA:275555
HP:0002315	Headache	10699	CORIN	ORPHA:275555
HP:0002315	Headache	8314	BAP1	ORPHA:2495
HP:0002315	Headache	4771	NF2	ORPHA:2495
HP:0002315	Headache	4771	NF2	OMIM:101000
HP:0002315	Headache	6598	SMARCB1	ORPHA:2495
HP:0002315	Headache	5155	PDGFB	ORPHA:2495
HP:0002315	Headache	84231	TRAF7	ORPHA:2495
HP:0002315	Headache	6608	SMO	ORPHA:2495
HP:0002315	Headache	207	AKT1	ORPHA:2495
HP:0002315	Headache	5290	PIK3CA	ORPHA:2495
HP:0002315	Headache	5290	PIK3CA	ORPHA:221061
HP:0002315	Headache	7015	TERT	ORPHA:2495
HP:0002315	Headache	51684	SUFU	ORPHA:2495
HP:0002315	Headache	6605	SMARCE1	ORPHA:2495
HP:0002315	Headache	773	CACNA1A	ORPHA:2131
HP:0002315	Headache	6507	SLC1A3	ORPHA:2131
HP:0002315	Headache	6507	SLC1A3	ORPHA:209967
HP:0002315	Headache	477	ATP1A2	ORPHA:2131
HP:0002315	Headache	477	ATP1A2	OMIM:104290
HP:0002315	Headache	478	ATP1A3	ORPHA:2131
HP:0002315	Headache	10056	FARSB	OMIM:613658
HP:0002315	Headache	1493	CTLA4	ORPHA:900
HP:0002315	Headache	3115	HLA-DPB1	ORPHA:900
HP:0002315	Headache	5657	PRTN3	ORPHA:900
HP:0002315	Headache	3113	HLA-DPA1	ORPHA:900
HP:0002315	Headache	51284	TLR7	OMIM:301080
HP:0002315	Headache	30813	VSX1	OMIM:614195
HP:0002315	Headache	50485	SMARCAL1	ORPHA:1830
HP:0002315	Headache	2050	EPHB4	ORPHA:137667
HP:0002315	Headache	9493	KIF23	ORPHA:98870
HP:0002315	Headache	29127	RACGAP1	ORPHA:98870
HP:0002315	Headache	4488	MSX2	OMIM:604757
HP:0002315	Headache	4488	MSX2	ORPHA:60015
HP:0002315	Headache	4488	MSX2	OMIM:168500
HP:0002315	Headache	60529	ALX4	ORPHA:60015
HP:0002315	Headache	2157	F8	ORPHA:169805
HP:0002315	Headache	2157	F8	ORPHA:169802
HP:0002315	Headache	162417	NAGS	ORPHA:927
HP:0002315	Headache	2776	GNAQ	ORPHA:3205
HP:0002315	Headache	81839	VANGL1	OMIM:600145
HP:0002315	Headache	5728	PTEN	ORPHA:65285
HP:0002315	Headache	3980	LIG3	OMIM:619780
HP:0002315	Headache	811	CALR	ORPHA:3318
HP:0002315	Headache	7157	TP53	ORPHA:3318
HP:0002315	Headache	7157	TP53	ORPHA:96253
HP:0002315	Headache	7157	TP53	OMIM:260500
HP:0002315	Headache	9573	GDF3	ORPHA:2345
HP:0002315	Headache	392255	GDF6	ORPHA:2345
HP:0002315	Headache	4222	MEOX1	ORPHA:2345
HP:0002315	Headache	11232	POLG2	OMIM:619425
HP:0002315	Headache	10535	RNASEH2A	ORPHA:51
HP:0002315	Headache	84153	RNASEH2C	ORPHA:51
HP:0002315	Headache	25939	SAMHD1	ORPHA:51
HP:0002315	Headache	79621	RNASEH2B	ORPHA:51
HP:0002315	Headache	103	ADAR	ORPHA:51
HP:0002315	Headache	11277	TREX1	ORPHA:51
HP:0002315	Headache	100147744	RNU7-1	ORPHA:51
HP:0002315	Headache	134353	LSM11	ORPHA:51
HP:0002315	Headache	64135	IFIH1	ORPHA:51
HP:0002315	Headache	3762	KCNJ5	ORPHA:251274
HP:0002315	Headache	165918	RNF168	ORPHA:420741
HP:0002315	Headache	1188	CLCNKB	ORPHA:358
HP:0002315	Headache	6559	SLC12A3	ORPHA:358
HP:0002315	Headache	149233	IL23R	ORPHA:117
HP:0002315	Headache	6775	STAT4	ORPHA:117
HP:0002315	Headache	6775	STAT4	ORPHA:93552
HP:0002315	Headache	3586	IL10	ORPHA:117
HP:0002315	Headache	1230	CCR1	ORPHA:117
HP:0002315	Headache	3592	IL12A	ORPHA:117
HP:0002315	Headache	101928376	IL12A-AS1	ORPHA:117
HP:0002315	Headache	7099	TLR4	ORPHA:117
HP:0002315	Headache	3459	IFNGR1	ORPHA:117
HP:0002315	Headache	720	C4A	ORPHA:117
HP:0002315	Headache	337867	UBAC2	ORPHA:117
HP:0002315	Headache	51752	ERAP1	ORPHA:117
HP:0002315	Headache	8302	KLRC4	ORPHA:117
HP:0002315	Headache	7187	TRAF3	ORPHA:1930
HP:0002315	Headache	81622	UNC93B1	ORPHA:1930
HP:0002315	Headache	148022	TICAM1	ORPHA:1930
HP:0002315	Headache	7098	TLR3	ORPHA:1930
HP:0002315	Headache	29110	TBK1	ORPHA:1930
HP:0002315	Headache	7291	TWIST1	ORPHA:794
HP:0002315	Headache	2263	FGFR2	ORPHA:794
HP:0002315	Headache	2263	FGFR2	ORPHA:207
HP:0002315	Headache	2261	FGFR3	ORPHA:794
HP:0002315	Headache	4088	SMAD3	ORPHA:284984
HP:0002315	Headache	2639	GCDH	ORPHA:25
HP:0002315	Headache	3736	KCNA1	OMIM:160120
HP:0002315	Headache	3736	KCNA1	ORPHA:37612
HP:0002315	Headache	6696	SPP1	ORPHA:93552
HP:0002315	Headache	6303	SAT1	ORPHA:93552
HP:0002315	Headache	3654	IRAK1	ORPHA:93552
HP:0002315	Headache	6261	RYR1	ORPHA:466650
HP:0002315	Headache	11235	PDCD10	ORPHA:221061
HP:0002315	Headache	11235	PDCD10	OMIM:603285
HP:0002315	Headache	83605	CCM2	ORPHA:221061
HP:0002315	Headache	83605	CCM2	OMIM:603284
HP:0002315	Headache	889	KRIT1	ORPHA:221061
HP:0002315	Headache	889	KRIT1	OMIM:116860
HP:0002315	Headache	10560	SLC19A2	ORPHA:49827
HP:0002315	Headache	1991	ELANE	ORPHA:2686
HP:0002315	Headache	4868	NPHS1	ORPHA:656
HP:0002315	Headache	23607	CD2AP	ORPHA:656
HP:0002315	Headache	9688	NUP93	ORPHA:656
HP:0002315	Headache	4643	MYO1E	ORPHA:656
HP:0002315	Headache	64423	INF2	ORPHA:656
HP:0002315	Headache	26130	GAPVD1	ORPHA:656
HP:0002315	Headache	7490	WT1	ORPHA:656
HP:0002315	Headache	57122	NUP107	ORPHA:656
HP:0002315	Headache	51479	ANKFY1	ORPHA:656
HP:0002315	Headache	54443	ANLN	ORPHA:656
HP:0002315	Headache	5800	PTPRO	ORPHA:656
HP:0002315	Headache	286204	CRB2	ORPHA:656
HP:0002315	Headache	23165	NUP205	ORPHA:656
HP:0002315	Headache	2013	EMP2	ORPHA:656
HP:0002315	Headache	79023	NUP37	ORPHA:656
HP:0002315	Headache	51196	PLCE1	ORPHA:656
HP:0002315	Headache	79902	NUP85	ORPHA:656
HP:0002315	Headache	1285	COL4A3	ORPHA:656
HP:0002315	Headache	396	ARHGDIA	ORPHA:656
HP:0002315	Headache	79934	COQ8B	ORPHA:656
HP:0002315	Headache	23279	NUP160	ORPHA:656
HP:0002315	Headache	9863	MAGI2	ORPHA:656
HP:0002315	Headache	81	ACTN4	ORPHA:656
HP:0002315	Headache	7225	TRPC6	ORPHA:656
HP:0002315	Headache	8542	APOL1	ORPHA:656
HP:0002315	Headache	54885	TBC1D8B	ORPHA:656
HP:0002315	Headache	7827	NPHS2	ORPHA:656
HP:0002315	Headache	83478	ARHGAP24	ORPHA:656
HP:0002315	Headache	23500	DAAM2	ORPHA:656
HP:0002315	Headache	5076	PAX2	ORPHA:656
HP:0002315	Headache	55746	NUP133	ORPHA:656
HP:0002315	Headache	9663	LPIN2	ORPHA:77297
HP:0002315	Headache	84196	USP48	ORPHA:96253
HP:0002315	Headache	9101	USP8	ORPHA:96253
HP:0002315	Headache	2908	NR3C1	ORPHA:96253
HP:0002315	Headache	546	ATRX	ORPHA:96253
HP:0002315	Headache	51116	MRPS2	OMIM:617950
HP:0002315	Headache	1181	CLCN2	OMIM:615651
HP:0002315	Headache	1181	CLCN2	ORPHA:404
HP:0002315	Headache	4128	MAOA	OMIM:300615
HP:0002315	Headache	6331	SCN5A	ORPHA:1344
HP:0002315	Headache	4878	NPPA	ORPHA:1344
HP:0002315	Headache	55107	ANO1	OMIM:620687
HP:0002315	Headache	2077	ERF	ORPHA:207
HP:0002315	Headache	291	SLC25A4	OMIM:615418
HP:0002315	Headache	5277	PIGA	ORPHA:447
HP:0002315	Headache	8792	TNFRSF11A	OMIM:602080
HP:0002315	Headache	27019	DNAI1	OMIM:244400
HP:0002315	Headache	4041	LRP5	ORPHA:178377
HP:0002315	Headache	4041	LRP5	OMIM:607634
HP:0002315	Headache	6660	SOX5	ORPHA:626
HP:0002315	Headache	238	ALK	ORPHA:626
HP:0002315	Headache	9839	ZEB2	ORPHA:626
HP:0002315	Headache	4893	NRAS	ORPHA:626
HP:0002315	Headache	5894	RAF1	ORPHA:626
HP:0002315	Headache	378884	NHLRC1	ORPHA:501
HP:0002315	Headache	7957	EPM2A	ORPHA:501
HP:0002315	Headache	27349	MCAT	OMIM:620583
HP:0002315	Headache	151	ADRA2B	ORPHA:86814
HP:0002315	Headache	55689	YEATS2	ORPHA:86814
HP:0002315	Headache	1501	CTNND2	ORPHA:86814
HP:0002315	Headache	10299	MARCHF6	ORPHA:86814
HP:0002315	Headache	6900	CNTN2	ORPHA:86814
HP:0002315	Headache	401474	SAMD12	ORPHA:86814
HP:0002315	Headache	4780	NFE2L2	OMIM:617744
HP:0002315	Headache	3075	CFH	ORPHA:244242
HP:0002315	Headache	3426	CFI	ORPHA:244242
HP:0002315	Headache	4179	CD46	ORPHA:244242
HP:0002315	Headache	101101692	HELLPAR	ORPHA:244242
HP:0002315	Headache	3661	IRF3	OMIM:616532
HP:0002315	Headache	91662	NLRP12	OMIM:611762
HP:0002315	Headache	5654	HTRA1	OMIM:616779
HP:0002315	Headache	23516	SLC39A14	OMIM:144755
HP:0002315	Headache	139285	AMER1	OMIM:300373
HP:0002315	Headache	595	CCND1	ORPHA:892
HP:0002315	Headache	1027	CDKN1B	ORPHA:652
HP:0002315	Headache	1026	CDKN1A	ORPHA:652
HP:0002315	Headache	1030	CDKN2B	ORPHA:652
HP:0002315	Headache	1031	CDKN2C	ORPHA:652
HP:0002315	Headache	6389	SDHA	OMIM:619259
HP:0002315	Headache	2629	GBA1	ORPHA:2072
HP:0002315	Headache	9365	KL	OMIM:617994
HP:0002315	Headache	351	APP	ORPHA:100006
HP:0002315	Headache	22943	DKK1	ORPHA:268882
HP:0002315	Headache	3593	IL12B	ORPHA:3287
HP:0002315	Headache	6945	MLX	ORPHA:3287
HP:0002315	Headache	1376	CPT2	ORPHA:228305
HP:0002315	Headache	4508	MT-ATP6	ORPHA:644
HP:0002315	Headache	1584	CYP11B1	ORPHA:403
HP:0002315	Headache	1585	CYP11B2	ORPHA:403
HP:0002315	Headache	587	BCAT2	OMIM:618850
HP:0002315	Headache	8942	KYNU	ORPHA:79155
HP:0002315	Headache	4067	LYN	OMIM:620376
HP:0002315	Headache	1743	DLST	ORPHA:29072
HP:0002315	Headache	4191	MDH2	ORPHA:29072
HP:0002315	Headache	23095	KIF1B	ORPHA:29072
HP:0002315	Headache	2271	FH	ORPHA:29072
HP:0002315	Headache	8402	SLC25A11	ORPHA:29072
HP:0002315	Headache	54949	SDHAF2	ORPHA:29072
HP:0002315	Headache	55654	TMEM127	ORPHA:29072
HP:0002315	Headache	6391	SDHC	ORPHA:29072
HP:0002315	Headache	6391	SDHC	OMIM:605373
HP:0002315	Headache	6392	SDHD	ORPHA:29072
HP:0002315	Headache	6392	SDHD	OMIM:168000
HP:0002315	Headache	6392	SDHD	ORPHA:276621
HP:0002315	Headache	6390	SDHB	ORPHA:29072
HP:0002315	Headache	6390	SDHB	ORPHA:276621
HP:0002315	Headache	6390	SDHB	OMIM:115310
HP:0002315	Headache	4149	MAX	ORPHA:29072
HP:0002315	Headache	1788	DNMT3A	ORPHA:276621
HP:0002315	Headache	2034	EPAS1	ORPHA:276621
HP:0001355	Megalencephaly	5296	PIK3R2	OMIM:603387
HP:0001355	Megalencephaly	5296	PIK3R2	ORPHA:83473
HP:0001355	Megalencephaly	6611	SMS	ORPHA:3063
HP:0001355	Megalencephaly	8925	HERC1	ORPHA:457359
HP:0001355	Megalencephaly	8925	HERC1	OMIM:617011
HP:0001355	Megalencephaly	2261	FGFR3	OMIM:616482
HP:0001355	Megalencephaly	2261	FGFR3	OMIM:100800
HP:0001355	Megalencephaly	51256	TBC1D7	OMIM:248000
HP:0001355	Megalencephaly	894	CCND2	ORPHA:83473
HP:0001355	Megalencephaly	894	CCND2	OMIM:615938
HP:0001355	Megalencephaly	10000	AKT3	ORPHA:83473
HP:0001355	Megalencephaly	6608	SMO	OMIM:601707
HP:0001355	Megalencephaly	4613	MYCN	OMIM:620748
HP:0001355	Megalencephaly	92335	STRADA	ORPHA:500533
HP:0001355	Megalencephaly	92335	STRADA	OMIM:611087
HP:0001355	Megalencephaly	116442	RAB39B	OMIM:311510
HP:0001355	Megalencephaly	220296	HEPACAM	OMIM:604004
HP:0001355	Megalencephaly	220296	HEPACAM	OMIM:613925
HP:0001355	Megalencephaly	220296	HEPACAM	OMIM:613926
HP:0001355	Megalencephaly	23209	MLC1	OMIM:604004
HP:0001355	Megalencephaly	5290	PIK3CA	OMIM:602501
HP:0001355	Megalencephaly	28514	DLL1	ORPHA:280195
HP:0001355	Megalencephaly	2253	FGF8	ORPHA:280195
HP:0001355	Megalencephaly	6496	SIX3	ORPHA:280195
HP:0001355	Megalencephaly	7050	TGIF1	ORPHA:280195
HP:0001355	Megalencephaly	4838	NODAL	ORPHA:280195
HP:0001355	Megalencephaly	6469	SHH	ORPHA:280195
HP:0001355	Megalencephaly	7546	ZIC2	ORPHA:280195
HP:0001355	Megalencephaly	6491	STIL	ORPHA:280195
HP:0001355	Megalencephaly	2619	GAS1	ORPHA:280195
HP:0001355	Megalencephaly	84976	DISP1	ORPHA:280195
HP:0001355	Megalencephaly	2736	GLI2	ORPHA:280195
HP:0001355	Megalencephaly	8928	FOXH1	ORPHA:280195
HP:0001355	Megalencephaly	6997	CRIPTO	ORPHA:280195
HP:0001355	Megalencephaly	5727	PTCH1	ORPHA:280195
HP:0001355	Megalencephaly	50937	CDON	ORPHA:280195
HP:0001355	Megalencephaly	8738	CRADD	OMIM:614499
HP:0001355	Megalencephaly	2475	MTOR	ORPHA:457485
HP:0001355	Megalencephaly	2475	MTOR	OMIM:616638
HP:0001355	Megalencephaly	8893	EIF2B5	OMIM:620315
HP:0001355	Megalencephaly	443	ASPA	ORPHA:314911
HP:0001355	Megalencephaly	2263	FGFR2	OMIM:101200
HP:0001355	Megalencephaly	5728	PTEN	OMIM:158350
HP:0001355	Megalencephaly	3458	IFNG	OMIM:613254
HP:0001355	Megalencephaly	7249	TSC2	OMIM:613254
HP:0001355	Megalencephaly	7249	TSC2	OMIM:607341
HP:0001355	Megalencephaly	7248	TSC1	OMIM:191100
HP:0001355	Megalencephaly	7248	TSC1	OMIM:607341
HP:0001355	Megalencephaly	9681	DEPDC5	OMIM:604364
HP:0001355	Megalencephaly	9681	DEPDC5	ORPHA:98820
HP:0001355	Megalencephaly	4893	NRAS	OMIM:163200
HP:0001355	Megalencephaly	3845	KRAS	OMIM:163200
HP:0001355	Megalencephaly	3265	HRAS	OMIM:163200
HP:0001355	Megalencephaly	8131	NPRL3	ORPHA:98820
HP:0001355	Megalencephaly	10641	NPRL2	ORPHA:98820
HP:0000262	Turricephaly	6497	SKI	OMIM:182212
HP:0000262	Turricephaly	6857	SYT1	ORPHA:522077
HP:0000262	Turricephaly	2260	FGFR1	OMIM:101600
HP:0000262	Turricephaly	2273	FHL1	OMIM:300280
HP:0000262	Turricephaly	5189	PEX1	OMIM:214100
HP:0000262	Turricephaly	121340	SP7	OMIM:613849
HP:0000262	Turricephaly	56975	FAM20C	OMIM:259775
HP:0000262	Turricephaly	199857	ALG14	OMIM:619036
HP:0000262	Turricephaly	10491	CRTAP	ORPHA:2050
HP:0000262	Turricephaly	9871	SEC24D	ORPHA:2050
HP:0000262	Turricephaly	9871	SEC24D	OMIM:616294
HP:0000262	Turricephaly	5034	P4HB	ORPHA:2050
HP:0000262	Turricephaly	3590	IL11RA	OMIM:614188
HP:0000262	Turricephaly	2879	GPX4	ORPHA:93317
HP:0000262	Turricephaly	2879	GPX4	OMIM:250220
HP:0000262	Turricephaly	7291	TWIST1	OMIM:123100
HP:0000262	Turricephaly	29957	SLC25A24	OMIM:612289
HP:0000262	Turricephaly	7545	ZIC1	OMIM:616602
HP:0000262	Turricephaly	80036	TRPM3	OMIM:620224
HP:0000262	Turricephaly	5830	PEX5	OMIM:214110
HP:0000262	Turricephaly	5447	POR	ORPHA:95699
HP:0000262	Turricephaly	23030	KDM4B	OMIM:619320
HP:0000262	Turricephaly	2263	FGFR2	ORPHA:1555
HP:0000262	Turricephaly	2263	FGFR2	ORPHA:1540
HP:0000262	Turricephaly	2263	FGFR2	ORPHA:207
HP:0000262	Turricephaly	4488	MSX2	OMIM:604757
HP:0000262	Turricephaly	9321	TRIP11	OMIM:200600
HP:0000262	Turricephaly	2261	FGFR3	ORPHA:93262
HP:0000262	Turricephaly	54	ACP5	OMIM:607944
HP:0000262	Turricephaly	55612	FERMT1	ORPHA:2908
HP:0000262	Turricephaly	83871	RAB34	OMIM:620718
HP:0000262	Turricephaly	93627	TBCK	OMIM:616900
HP:0000262	Turricephaly	2077	ERF	ORPHA:207
HP:0000262	Turricephaly	1312	COMT	ORPHA:567
HP:0000262	Turricephaly	221037	JMJD1C	ORPHA:567
HP:0000262	Turricephaly	2812	GP1BB	ORPHA:567
HP:0000262	Turricephaly	6239	RREB1	ORPHA:567
HP:0000262	Turricephaly	6899	TBX1	ORPHA:567
HP:0000262	Turricephaly	7290	HIRA	ORPHA:567
HP:0000262	Turricephaly	9632	SEC24C	ORPHA:567
HP:0000262	Turricephaly	7353	UFD1	ORPHA:567
HP:0000262	Turricephaly	421	ARVCF	ORPHA:567
HP:0000262	Turricephaly	9401	RECQL4	OMIM:218600
HP:0000262	Turricephaly	164	AP1G1	OMIM:619467
HP:0000262	Turricephaly	4330	MN1	OMIM:618774
HP:0000262	Turricephaly	7543	ZFX	OMIM:301118
HP:0000262	Turricephaly	2703	GJA8	OMIM:612474
HP:0000262	Turricephaly	2702	GJA5	OMIM:612474
HP:0000262	Turricephaly	9990	SLC12A6	ORPHA:1496
HP:0000262	Turricephaly	11193	WBP4	OMIM:620852
HP:0000262	Turricephaly	51715	RAB23	ORPHA:65759
HP:0000262	Turricephaly	1954	MEGF8	ORPHA:65759
HP:0000262	Turricephaly	55553	SOX6	OMIM:618971
HP:0002007	Frontal bossing	2137	EXTL3	ORPHA:508533
HP:0002007	Frontal bossing	2137	EXTL3	OMIM:617425
HP:0002007	Frontal bossing	1718	DHCR24	OMIM:602398
HP:0002007	Frontal bossing	1718	DHCR24	ORPHA:35107
HP:0002007	Frontal bossing	1497	CTNS	OMIM:219800
HP:0002007	Frontal bossing	11253	MAN1B1	ORPHA:397941
HP:0002007	Frontal bossing	26235	FBXL4	OMIM:615471
HP:0002007	Frontal bossing	1139	CHRNA7	ORPHA:199318
HP:0002007	Frontal bossing	5728	PTEN	OMIM:605309
HP:0002007	Frontal bossing	5728	PTEN	ORPHA:210548
HP:0002007	Frontal bossing	5728	PTEN	ORPHA:109
HP:0002007	Frontal bossing	5728	PTEN	ORPHA:79076
HP:0002007	Frontal bossing	83932	SPRTN	OMIM:616200
HP:0002007	Frontal bossing	1763	DNA2	OMIM:620819
HP:0002007	Frontal bossing	3265	HRAS	ORPHA:2612
HP:0002007	Frontal bossing	3845	KRAS	ORPHA:2612
HP:0002007	Frontal bossing	3845	KRAS	ORPHA:1340
HP:0002007	Frontal bossing	3845	KRAS	OMIM:609942
HP:0002007	Frontal bossing	4893	NRAS	ORPHA:2612
HP:0002007	Frontal bossing	7291	TWIST1	OMIM:123100
HP:0002007	Frontal bossing	7291	TWIST1	ORPHA:35093
HP:0002007	Frontal bossing	1947	EFNB1	ORPHA:1520
HP:0002007	Frontal bossing	1947	EFNB1	OMIM:304110
HP:0002007	Frontal bossing	9820	CUL7	ORPHA:2616
HP:0002007	Frontal bossing	9820	CUL7	OMIM:273750
HP:0002007	Frontal bossing	23363	OBSL1	ORPHA:2616
HP:0002007	Frontal bossing	23363	OBSL1	OMIM:612921
HP:0002007	Frontal bossing	83987	CCDC8	ORPHA:2616
HP:0002007	Frontal bossing	83987	CCDC8	OMIM:614205
HP:0002007	Frontal bossing	7360	UGP2	OMIM:618744
HP:0002007	Frontal bossing	5927	KDM5A	OMIM:620820
HP:0002007	Frontal bossing	79848	CSPP1	ORPHA:397715
HP:0002007	Frontal bossing	9786	KIAA0586	ORPHA:397715
HP:0002007	Frontal bossing	267010	RNU12	OMIM:603116
HP:0002007	Frontal bossing	267010	RNU12	ORPHA:85199
HP:0002007	Frontal bossing	9578	CDC42BPB	OMIM:619841
HP:0002007	Frontal bossing	3020	H3-3A	OMIM:619720
HP:0002007	Frontal bossing	2737	GLI3	ORPHA:380
HP:0002007	Frontal bossing	2737	GLI3	OMIM:175700
HP:0002007	Frontal bossing	3021	H3-3B	OMIM:619721
HP:0002007	Frontal bossing	220296	HEPACAM	ORPHA:210548
HP:0002007	Frontal bossing	51741	WWOX	OMIM:616211
HP:0002007	Frontal bossing	1855	DVL1	OMIM:616331
HP:0002007	Frontal bossing	1855	DVL1	OMIM:180700
HP:0002007	Frontal bossing	1855	DVL1	ORPHA:3107
HP:0002007	Frontal bossing	8942	KYNU	OMIM:617661
HP:0002007	Frontal bossing	55790	CSGALNACT1	OMIM:618870
HP:0002007	Frontal bossing	5830	PEX5	OMIM:202370
HP:0002007	Frontal bossing	2201	FBN2	OMIM:121050
HP:0002007	Frontal bossing	4286	MITF	OMIM:617306
HP:0002007	Frontal bossing	120227	CYP2R1	OMIM:600081
HP:0002007	Frontal bossing	120227	CYP2R1	ORPHA:289157
HP:0002007	Frontal bossing	57539	WDR35	ORPHA:1515
HP:0002007	Frontal bossing	57539	WDR35	OMIM:613610
HP:0002007	Frontal bossing	57539	WDR35	ORPHA:93271
HP:0002007	Frontal bossing	112752	IFT43	ORPHA:1515
HP:0002007	Frontal bossing	112752	IFT43	OMIM:614099
HP:0002007	Frontal bossing	51098	IFT52	ORPHA:1515
HP:0002007	Frontal bossing	55764	IFT122	ORPHA:1515
HP:0002007	Frontal bossing	55764	IFT122	OMIM:218330
HP:0002007	Frontal bossing	57728	WDR19	ORPHA:1515
HP:0002007	Frontal bossing	57728	WDR19	OMIM:614378
HP:0002007	Frontal bossing	57231	SNX14	ORPHA:397709
HP:0002007	Frontal bossing	50964	SOST	ORPHA:1513
HP:0002007	Frontal bossing	50964	SOST	OMIM:269500
HP:0002007	Frontal bossing	121340	SP7	ORPHA:1513
HP:0002007	Frontal bossing	6660	SOX5	ORPHA:313892
HP:0002007	Frontal bossing	6660	SOX5	OMIM:616803
HP:0002007	Frontal bossing	1896	EDA	OMIM:305100
HP:0002007	Frontal bossing	1896	EDA	ORPHA:181
HP:0002007	Frontal bossing	54	ACP5	OMIM:607944
HP:0002007	Frontal bossing	1513	CTSK	OMIM:265800
HP:0002007	Frontal bossing	1513	CTSK	ORPHA:763
HP:0002007	Frontal bossing	2261	FGFR3	OMIM:146000
HP:0002007	Frontal bossing	2261	FGFR3	ORPHA:1860
HP:0002007	Frontal bossing	2261	FGFR3	OMIM:616482
HP:0002007	Frontal bossing	2261	FGFR3	ORPHA:15
HP:0002007	Frontal bossing	2261	FGFR3	ORPHA:93274
HP:0002007	Frontal bossing	2261	FGFR3	ORPHA:93262
HP:0002007	Frontal bossing	2261	FGFR3	OMIM:100800
HP:0002007	Frontal bossing	2261	FGFR3	OMIM:187601
HP:0002007	Frontal bossing	2261	FGFR3	OMIM:187600
HP:0002007	Frontal bossing	64359	NXN	OMIM:618529
HP:0002007	Frontal bossing	64359	NXN	ORPHA:1507
HP:0002007	Frontal bossing	56172	ANKH	OMIM:123000
HP:0002007	Frontal bossing	4920	ROR2	ORPHA:1507
HP:0002007	Frontal bossing	4920	ROR2	OMIM:268310
HP:0002007	Frontal bossing	5191	PEX7	OMIM:215100
HP:0002007	Frontal bossing	2035	EPB41	ORPHA:288
HP:0002007	Frontal bossing	2995	GYPC	ORPHA:288
HP:0002007	Frontal bossing	6710	SPTB	ORPHA:288
HP:0002007	Frontal bossing	6708	SPTA1	ORPHA:288
HP:0002007	Frontal bossing	10484	SEC23A	OMIM:607812
HP:0002007	Frontal bossing	10484	SEC23A	ORPHA:50814
HP:0002007	Frontal bossing	1105	CHD1	OMIM:617682
HP:0002007	Frontal bossing	1105	CHD1	ORPHA:529965
HP:0002007	Frontal bossing	10815	CPLX1	ORPHA:280
HP:0002007	Frontal bossing	54872	PIGG	ORPHA:280
HP:0002007	Frontal bossing	7469	NELFA	ORPHA:280
HP:0002007	Frontal bossing	1487	CTBP1	ORPHA:280
HP:0002007	Frontal bossing	1487	CTBP1	OMIM:617915
HP:0002007	Frontal bossing	3954	LETM1	ORPHA:280
HP:0002007	Frontal bossing	7468	NSD2	ORPHA:280
HP:0002007	Frontal bossing	84504	NKX6-2	OMIM:617560
HP:0002007	Frontal bossing	1656	DDX6	OMIM:618653
HP:0002007	Frontal bossing	1594	CYP27B1	OMIM:264700
HP:0002007	Frontal bossing	1594	CYP27B1	ORPHA:289157
HP:0002007	Frontal bossing	1301	COL11A1	OMIM:228520
HP:0002007	Frontal bossing	1301	COL11A1	ORPHA:440354
HP:0002007	Frontal bossing	1301	COL11A1	ORPHA:560
HP:0002007	Frontal bossing	80776	B9D2	OMIM:614175
HP:0002007	Frontal bossing	5813	PURA	ORPHA:438216
HP:0002007	Frontal bossing	2783	GNB2	OMIM:619503
HP:0002007	Frontal bossing	6602	SMARCD1	OMIM:618779
HP:0002007	Frontal bossing	55623	THUMPD1	OMIM:619989
HP:0002007	Frontal bossing	26038	CHD5	OMIM:619873
HP:0002007	Frontal bossing	5034	P4HB	OMIM:112240
HP:0002007	Frontal bossing	5034	P4HB	ORPHA:2050
HP:0002007	Frontal bossing	1182	CLCN3	OMIM:619512
HP:0002007	Frontal bossing	3043	HBB	ORPHA:231214
HP:0002007	Frontal bossing	3043	HBB	ORPHA:231226
HP:0002007	Frontal bossing	6905	TBCE	OMIM:241410
HP:0002007	Frontal bossing	3590	IL11RA	OMIM:614188
HP:0002007	Frontal bossing	142680	SLC34A3	OMIM:241530
HP:0002007	Frontal bossing	57167	SALL4	OMIM:147750
HP:0002007	Frontal bossing	5048	PAFAH1B1	ORPHA:217385
HP:0002007	Frontal bossing	7531	YWHAE	ORPHA:217385
HP:0002007	Frontal bossing	3481	IGF2	OMIM:616489
HP:0002007	Frontal bossing	3481	IGF2	OMIM:180860
HP:0002007	Frontal bossing	3481	IGF2	ORPHA:397590
HP:0002007	Frontal bossing	9681	DEPDC5	OMIM:620504
HP:0002007	Frontal bossing	92609	TIMM50	OMIM:617698
HP:0002007	Frontal bossing	3098	HK1	OMIM:618547
HP:0002007	Frontal bossing	5590	PRKCZ	ORPHA:1606
HP:0002007	Frontal bossing	2563	GABRD	ORPHA:1606
HP:0002007	Frontal bossing	23013	SPEN	ORPHA:1606
HP:0002007	Frontal bossing	23013	SPEN	OMIM:619312
HP:0002007	Frontal bossing	8510	MMP23B	ORPHA:1606
HP:0002007	Frontal bossing	7798	LUZP1	ORPHA:1606
HP:0002007	Frontal bossing	6497	SKI	ORPHA:1606
HP:0002007	Frontal bossing	6497	SKI	ORPHA:2462
HP:0002007	Frontal bossing	6497	SKI	OMIM:182212
HP:0002007	Frontal bossing	10630	PDPN	ORPHA:1606
HP:0002007	Frontal bossing	3339	HSPG2	ORPHA:1606
HP:0002007	Frontal bossing	10277	UBE4B	ORPHA:1606
HP:0002007	Frontal bossing	8514	KCNAB2	ORPHA:1606
HP:0002007	Frontal bossing	473	RERE	ORPHA:1606
HP:0002007	Frontal bossing	473	RERE	ORPHA:494344
HP:0002007	Frontal bossing	473	RERE	OMIM:616975
HP:0002007	Frontal bossing	63976	PRDM16	ORPHA:1606
HP:0002007	Frontal bossing	54897	CASZ1	ORPHA:1606
HP:0002007	Frontal bossing	5727	PTCH1	OMIM:610828
HP:0002007	Frontal bossing	5727	PTCH1	ORPHA:377
HP:0002007	Frontal bossing	5727	PTCH1	OMIM:109400
HP:0002007	Frontal bossing	79796	ALG9	ORPHA:79328
HP:0002007	Frontal bossing	79796	ALG9	OMIM:608776
HP:0002007	Frontal bossing	8314	BAP1	OMIM:619762
HP:0002007	Frontal bossing	83479	DDX59	ORPHA:2919
HP:0002007	Frontal bossing	83479	DDX59	OMIM:174300
HP:0002007	Frontal bossing	6942	TCF20	OMIM:618430
HP:0002007	Frontal bossing	9968	MED12	OMIM:305450
HP:0002007	Frontal bossing	9968	MED12	OMIM:309520
HP:0002007	Frontal bossing	2316	FLNA	OMIM:304120
HP:0002007	Frontal bossing	2316	FLNA	ORPHA:2484
HP:0002007	Frontal bossing	2316	FLNA	OMIM:311300
HP:0002007	Frontal bossing	2271	FH	OMIM:606812
HP:0002007	Frontal bossing	4488	MSX2	OMIM:604757
HP:0002007	Frontal bossing	8643	PTCH2	ORPHA:377
HP:0002007	Frontal bossing	51684	SUFU	ORPHA:377
HP:0002007	Frontal bossing	51684	SUFU	OMIM:620343
HP:0002007	Frontal bossing	51684	SUFU	OMIM:617757
HP:0002007	Frontal bossing	23556	PIGN	OMIM:614080
HP:0002007	Frontal bossing	23007	PLCH1	OMIM:619895
HP:0002007	Frontal bossing	249	ALPL	OMIM:241510
HP:0002007	Frontal bossing	79989	IFT56	OMIM:619534
HP:0002007	Frontal bossing	84168	ANTXR1	OMIM:230740
HP:0002007	Frontal bossing	84168	ANTXR1	ORPHA:2067
HP:0002007	Frontal bossing	2260	FGFR1	OMIM:166250
HP:0002007	Frontal bossing	7994	KAT6A	OMIM:616268
HP:0002007	Frontal bossing	2720	GLB1	OMIM:230500
HP:0002007	Frontal bossing	2720	GLB1	ORPHA:79255
HP:0002007	Frontal bossing	3930	LBR	OMIM:169400
HP:0002007	Frontal bossing	3930	LBR	OMIM:618019
HP:0002007	Frontal bossing	1107	CHD3	OMIM:618205
HP:0002007	Frontal bossing	2317	FLNB	OMIM:272460
HP:0002007	Frontal bossing	2317	FLNB	OMIM:108721
HP:0002007	Frontal bossing	2317	FLNB	OMIM:108720
HP:0002007	Frontal bossing	2317	FLNB	OMIM:150250
HP:0002007	Frontal bossing	1749	DLX5	OMIM:220600
HP:0002007	Frontal bossing	27077	B9D1	OMIM:617120
HP:0002007	Frontal bossing	9742	IFT140	OMIM:266920
HP:0002007	Frontal bossing	60529	ALX4	ORPHA:228390
HP:0002007	Frontal bossing	60529	ALX4	ORPHA:35093
HP:0002007	Frontal bossing	26173	INTS1	OMIM:618571
HP:0002007	Frontal bossing	1523	CUX1	OMIM:618330
HP:0002007	Frontal bossing	5587	PRKD1	OMIM:617364
HP:0002007	Frontal bossing	5426	POLE	OMIM:618336
HP:0002007	Frontal bossing	5426	POLE	ORPHA:85173
HP:0002007	Frontal bossing	2263	FGFR2	OMIM:101200
HP:0002007	Frontal bossing	2263	FGFR2	OMIM:123500
HP:0002007	Frontal bossing	2263	FGFR2	ORPHA:207
HP:0002007	Frontal bossing	2263	FGFR2	ORPHA:87
HP:0002007	Frontal bossing	2263	FGFR2	OMIM:207410
HP:0002007	Frontal bossing	2263	FGFR2	ORPHA:1540
HP:0002007	Frontal bossing	7227	TRPS1	ORPHA:77258
HP:0002007	Frontal bossing	4921	DDR2	OMIM:271665
HP:0002007	Frontal bossing	8925	HERC1	OMIM:617011
HP:0002007	Frontal bossing	54892	NCAPG2	OMIM:618460
HP:0002007	Frontal bossing	23314	SATB2	ORPHA:251028
HP:0002007	Frontal bossing	23314	SATB2	OMIM:612313
HP:0002007	Frontal bossing	51259	TMEM216	OMIM:608091
HP:0002007	Frontal bossing	51259	TMEM216	ORPHA:2754
HP:0002007	Frontal bossing	253738	EBF3	ORPHA:96148
HP:0002007	Frontal bossing	90459	ERI1	OMIM:620663
HP:0002007	Frontal bossing	1277	COL1A1	OMIM:259420
HP:0002007	Frontal bossing	1278	COL1A2	OMIM:259420
HP:0002007	Frontal bossing	7707	ZNF148	OMIM:617260
HP:0002007	Frontal bossing	29887	SNX10	OMIM:615085
HP:0002007	Frontal bossing	5515	PPP2CA	OMIM:618354
HP:0002007	Frontal bossing	1747	DLX3	OMIM:190320
HP:0002007	Frontal bossing	1747	DLX3	ORPHA:3352
HP:0002007	Frontal bossing	9871	SEC24D	OMIM:616294
HP:0002007	Frontal bossing	9871	SEC24D	ORPHA:2050
HP:0002007	Frontal bossing	29998	BICRA	OMIM:619325
HP:0002007	Frontal bossing	6651	SON	OMIM:617140
HP:0002007	Frontal bossing	6651	SON	ORPHA:500150
HP:0002007	Frontal bossing	8312	AXIN1	OMIM:620558
HP:0002007	Frontal bossing	4952	OCRL	ORPHA:534
HP:0002007	Frontal bossing	2710	GK	OMIM:307030
HP:0002007	Frontal bossing	9126	SMC3	OMIM:610759
HP:0002007	Frontal bossing	55777	MBD5	OMIM:156200
HP:0002007	Frontal bossing	4784	NFIX	OMIM:602535
HP:0002007	Frontal bossing	4784	NFIX	ORPHA:420179
HP:0002007	Frontal bossing	3039	HBA1	ORPHA:98791
HP:0002007	Frontal bossing	3040	HBA2	ORPHA:98791
HP:0002007	Frontal bossing	4998	ORC1	OMIM:224690
HP:0002007	Frontal bossing	4125	MAN2B1	OMIM:248500
HP:0002007	Frontal bossing	54496	PRMT7	OMIM:617157
HP:0002007	Frontal bossing	10082	GPC6	OMIM:258315
HP:0002007	Frontal bossing	10082	GPC6	ORPHA:93329
HP:0002007	Frontal bossing	5831	PYCR1	OMIM:612940
HP:0002007	Frontal bossing	2077	ERF	ORPHA:207
HP:0002007	Frontal bossing	2077	ERF	ORPHA:35093
HP:0002007	Frontal bossing	116442	RAB39B	OMIM:311510
HP:0002007	Frontal bossing	116442	RAB39B	ORPHA:2379
HP:0002007	Frontal bossing	7703	PCGF2	OMIM:618371
HP:0002007	Frontal bossing	23258	DENND5A	OMIM:617281
HP:0002007	Frontal bossing	9496	TBX4	ORPHA:261279
HP:0002007	Frontal bossing	8091	HMGA2	ORPHA:94063
HP:0002007	Frontal bossing	8091	HMGA2	ORPHA:397590
HP:0002007	Frontal bossing	23592	LEMD3	ORPHA:94063
HP:0002007	Frontal bossing	10013	HDAC6	OMIM:300863
HP:0002007	Frontal bossing	10013	HDAC6	ORPHA:163966
HP:0002007	Frontal bossing	633	BGN	OMIM:300989
HP:0002007	Frontal bossing	164	AP1G1	OMIM:619467
HP:0002007	Frontal bossing	3977	LIFR	OMIM:601559
HP:0002007	Frontal bossing	26040	SETBP1	OMIM:616078
HP:0002007	Frontal bossing	26040	SETBP1	ORPHA:798
HP:0002007	Frontal bossing	5144	PDE4D	ORPHA:439822
HP:0002007	Frontal bossing	5144	PDE4D	ORPHA:950
HP:0002007	Frontal bossing	2475	MTOR	ORPHA:457485
HP:0002007	Frontal bossing	2475	MTOR	OMIM:616638
HP:0002007	Frontal bossing	23384	SPECC1L	OMIM:145420
HP:0002007	Frontal bossing	4990	SIX6	OMIM:206900
HP:0002007	Frontal bossing	6657	SOX2	OMIM:206900
HP:0002007	Frontal bossing	64864	RFX7	OMIM:620330
HP:0002007	Frontal bossing	9321	TRIP11	ORPHA:166272
HP:0002007	Frontal bossing	9321	TRIP11	ORPHA:93299
HP:0002007	Frontal bossing	9791	PTDSS1	OMIM:151050
HP:0002007	Frontal bossing	4882	NPR2	OMIM:602875
HP:0002007	Frontal bossing	4882	NPR2	ORPHA:40
HP:0002007	Frontal bossing	9851	KIAA0753	OMIM:619476
HP:0002007	Frontal bossing	9851	KIAA0753	OMIM:619479
HP:0002007	Frontal bossing	9851	KIAA0753	ORPHA:2754
HP:0002007	Frontal bossing	57498	KIDINS220	OMIM:617296
HP:0002007	Frontal bossing	10526	IPO8	OMIM:619472
HP:0002007	Frontal bossing	145173	B3GLCT	OMIM:261540
HP:0002007	Frontal bossing	145173	B3GLCT	ORPHA:709
HP:0002007	Frontal bossing	2033	EP300	OMIM:180849
HP:0002007	Frontal bossing	1387	CREBBP	OMIM:180849
HP:0002007	Frontal bossing	79005	SCNM1	OMIM:620107
HP:0002007	Frontal bossing	10283	CWC27	OMIM:250410
HP:0002007	Frontal bossing	10283	CWC27	ORPHA:166035
HP:0002007	Frontal bossing	4796	TONSL	OMIM:271510
HP:0002007	Frontal bossing	4796	TONSL	ORPHA:93357
HP:0002007	Frontal bossing	526	ATP6V1B2	ORPHA:79500
HP:0002007	Frontal bossing	57465	TBC1D24	ORPHA:79500
HP:0002007	Frontal bossing	11198	SUPT16H	OMIM:619480
HP:0002007	Frontal bossing	2887	GRB10	ORPHA:96182
HP:0002007	Frontal bossing	84172	POLR1B	ORPHA:861
HP:0002007	Frontal bossing	9533	POLR1C	ORPHA:861
HP:0002007	Frontal bossing	51082	POLR1D	ORPHA:861
HP:0002007	Frontal bossing	6949	TCOF1	ORPHA:861
HP:0002007	Frontal bossing	23405	DICER1	OMIM:618272
HP:0002007	Frontal bossing	55210	ATAD3A	OMIM:617183
HP:0002007	Frontal bossing	1298	COL9A2	OMIM:600204
HP:0002007	Frontal bossing	3636	INPPL1	OMIM:258480
HP:0002007	Frontal bossing	3636	INPPL1	ORPHA:2746
HP:0002007	Frontal bossing	4841	NONO	OMIM:300967
HP:0002007	Frontal bossing	4841	NONO	ORPHA:466791
HP:0002007	Frontal bossing	8567	MADD	OMIM:619005
HP:0002007	Frontal bossing	5058	PAK1	OMIM:618158
HP:0002007	Frontal bossing	10651	MTX2	OMIM:619127
HP:0002007	Frontal bossing	29123	ANKRD11	ORPHA:261250
HP:0002007	Frontal bossing	25839	COG4	ORPHA:85172
HP:0002007	Frontal bossing	64093	SMOC1	OMIM:206920
HP:0002007	Frontal bossing	64093	SMOC1	ORPHA:1106
HP:0002007	Frontal bossing	1028	CDKN1C	ORPHA:85173
HP:0002007	Frontal bossing	1028	CDKN1C	ORPHA:397590
HP:0002007	Frontal bossing	2799	GNS	OMIM:252940
HP:0002007	Frontal bossing	6329	SCN4A	OMIM:620351
HP:0002007	Frontal bossing	6329	SCN4A	OMIM:620369
HP:0002007	Frontal bossing	55599	RNPC3	OMIM:618160
HP:0002007	Frontal bossing	23387	SIK3	OMIM:618162
HP:0002007	Frontal bossing	6904	TBCD	OMIM:617193
HP:0002007	Frontal bossing	5528	PPP2R5D	ORPHA:457279
HP:0002007	Frontal bossing	1984	EIF5A	OMIM:619376
HP:0002007	Frontal bossing	89970	RSPRY1	ORPHA:457395
HP:0002007	Frontal bossing	89970	RSPRY1	OMIM:616723
HP:0002007	Frontal bossing	9487	PIGL	OMIM:280000
HP:0002007	Frontal bossing	8481	OFD1	OMIM:300804
HP:0002007	Frontal bossing	8481	OFD1	OMIM:311200
HP:0002007	Frontal bossing	8481	OFD1	ORPHA:2750
HP:0002007	Frontal bossing	8481	OFD1	ORPHA:2754
HP:0002007	Frontal bossing	5557	PRIM1	OMIM:620005
HP:0002007	Frontal bossing	3295	HSD17B4	OMIM:261515
HP:0002007	Frontal bossing	83737	ITCH	ORPHA:228426
HP:0002007	Frontal bossing	83737	ITCH	OMIM:613385
HP:0002007	Frontal bossing	7474	WNT5A	OMIM:180700
HP:0002007	Frontal bossing	7474	WNT5A	ORPHA:3107
HP:0002007	Frontal bossing	9897	WASHC5	ORPHA:7
HP:0002007	Frontal bossing	28952	CCDC22	ORPHA:7
HP:0002007	Frontal bossing	57020	VPS35L	ORPHA:7
HP:0002007	Frontal bossing	56896	DPYSL5	ORPHA:7
HP:0002007	Frontal bossing	6913	TBX15	OMIM:260660
HP:0002007	Frontal bossing	6913	TBX15	ORPHA:93333
HP:0002007	Frontal bossing	55181	SMG8	OMIM:619268
HP:0002007	Frontal bossing	27161	AGO2	OMIM:619149
HP:0002007	Frontal bossing	284361	EMC10	OMIM:619264
HP:0002007	Frontal bossing	4067	LYN	OMIM:620376
HP:0002007	Frontal bossing	283450	HECTD4	OMIM:620250
HP:0002007	Frontal bossing	374654	KIF7	ORPHA:166024
HP:0002007	Frontal bossing	374654	KIF7	OMIM:200990
HP:0002007	Frontal bossing	374654	KIF7	OMIM:607131
HP:0002007	Frontal bossing	374654	KIF7	ORPHA:2754
HP:0002007	Frontal bossing	5573	PRKAR1A	ORPHA:950
HP:0002007	Frontal bossing	7421	VDR	ORPHA:93160
HP:0002007	Frontal bossing	7421	VDR	OMIM:277440
HP:0002007	Frontal bossing	10491	CRTAP	ORPHA:2050
HP:0002007	Frontal bossing	55503	TRPV6	OMIM:618188
HP:0002007	Frontal bossing	10312	TCIRG1	OMIM:259700
HP:0002007	Frontal bossing	775	CACNA1C	OMIM:620029
HP:0002007	Frontal bossing	5447	POR	ORPHA:95699
HP:0002007	Frontal bossing	5447	POR	OMIM:201750
HP:0002007	Frontal bossing	5447	POR	OMIM:207410
HP:0002007	Frontal bossing	9401	RECQL4	OMIM:268400
HP:0002007	Frontal bossing	9401	RECQL4	ORPHA:1225
HP:0002007	Frontal bossing	4983	OPHN1	OMIM:300486
HP:0002007	Frontal bossing	4774	NFIA	ORPHA:401986
HP:0002007	Frontal bossing	55112	DYNC2I1	ORPHA:93271
HP:0002007	Frontal bossing	57560	IFT80	ORPHA:93271
HP:0002007	Frontal bossing	79659	DYNC2H1	ORPHA:93271
HP:0002007	Frontal bossing	89891	DYNC2I2	ORPHA:93271
HP:0002007	Frontal bossing	4281	MID1	OMIM:300000
HP:0002007	Frontal bossing	9442	MED27	OMIM:619286
HP:0002007	Frontal bossing	2314	FLII	ORPHA:819
HP:0002007	Frontal bossing	23096	IQSEC2	ORPHA:819
HP:0002007	Frontal bossing	10743	RAI1	ORPHA:819
HP:0002007	Frontal bossing	10522	DEAF1	ORPHA:819
HP:0002007	Frontal bossing	10522	DEAF1	OMIM:615828
HP:0002007	Frontal bossing	6662	SOX9	OMIM:114290
HP:0002007	Frontal bossing	5744	PTHLH	ORPHA:93387
HP:0002007	Frontal bossing	3239	HOXD13	ORPHA:93387
HP:0002007	Frontal bossing	4758	NEU1	ORPHA:812
HP:0002007	Frontal bossing	150468	CKAP2L	ORPHA:3255
HP:0002007	Frontal bossing	4038	LRP4	ORPHA:3258
HP:0002007	Frontal bossing	4038	LRP4	OMIM:614305
HP:0002007	Frontal bossing	324	APC	ORPHA:3258
HP:0002007	Frontal bossing	6595	SMARCA2	OMIM:619293
HP:0002007	Frontal bossing	51360	MBTPS2	ORPHA:2273
HP:0002007	Frontal bossing	57492	ARID1B	OMIM:135900
HP:0002007	Frontal bossing	64324	NSD1	OMIM:117550
HP:0002007	Frontal bossing	80204	FBXO11	OMIM:618089
HP:0002007	Frontal bossing	10908	PNPLA6	ORPHA:3363
HP:0002007	Frontal bossing	672	BRCA1	ORPHA:84
HP:0002007	Frontal bossing	10459	MAD2L2	ORPHA:84
HP:0002007	Frontal bossing	7516	XRCC2	ORPHA:84
HP:0002007	Frontal bossing	29089	UBE2T	ORPHA:84
HP:0002007	Frontal bossing	675	BRCA2	ORPHA:84
HP:0002007	Frontal bossing	55120	FANCL	ORPHA:84
HP:0002007	Frontal bossing	2177	FANCD2	ORPHA:84
HP:0002007	Frontal bossing	2175	FANCA	ORPHA:84
HP:0002007	Frontal bossing	2187	FANCB	ORPHA:84
HP:0002007	Frontal bossing	2176	FANCC	ORPHA:84
HP:0002007	Frontal bossing	2178	FANCE	ORPHA:84
HP:0002007	Frontal bossing	2188	FANCF	ORPHA:84
HP:0002007	Frontal bossing	2189	FANCG	ORPHA:84
HP:0002007	Frontal bossing	5888	RAD51	ORPHA:84
HP:0002007	Frontal bossing	5889	RAD51C	ORPHA:84
HP:0002007	Frontal bossing	55159	RFWD3	ORPHA:84
HP:0002007	Frontal bossing	83990	BRIP1	ORPHA:84
HP:0002007	Frontal bossing	57697	FANCM	ORPHA:84
HP:0002007	Frontal bossing	79728	PALB2	ORPHA:84
HP:0002007	Frontal bossing	84464	SLX4	ORPHA:84
HP:0002007	Frontal bossing	2072	ERCC4	ORPHA:84
HP:0002007	Frontal bossing	55215	FANCI	ORPHA:84
HP:0002007	Frontal bossing	83550	GPR101	ORPHA:963
HP:0002007	Frontal bossing	9049	AIP	ORPHA:963
HP:0002007	Frontal bossing	9049	AIP	ORPHA:99725
HP:0002007	Frontal bossing	23116	TOGARAM1	OMIM:619185
HP:0002007	Frontal bossing	9377	COX5A	OMIM:619064
HP:0002007	Frontal bossing	9839	ZEB2	ORPHA:261552
HP:0002007	Frontal bossing	1327	COX4I1	OMIM:619060
HP:0002007	Frontal bossing	860	RUNX2	OMIM:119600
HP:0002007	Frontal bossing	860	RUNX2	ORPHA:1452
HP:0002007	Frontal bossing	9184	BUB3	ORPHA:1052
HP:0002007	Frontal bossing	699	BUB1	ORPHA:1052
HP:0002007	Frontal bossing	9702	CEP57	ORPHA:1052
HP:0002007	Frontal bossing	9702	CEP57	OMIM:614114
HP:0002007	Frontal bossing	9319	TRIP13	ORPHA:1052
HP:0002007	Frontal bossing	701	BUB1B	ORPHA:1052
HP:0002007	Frontal bossing	10682	EBP	ORPHA:35173
HP:0002007	Frontal bossing	10682	EBP	OMIM:302960
HP:0002007	Frontal bossing	4591	TRIM37	OMIM:253250
HP:0002007	Frontal bossing	1954	MEGF8	OMIM:614976
HP:0002007	Frontal bossing	4338	MOCS2	OMIM:252160
HP:0002007	Frontal bossing	657	BMPR1A	ORPHA:79076
HP:0002007	Frontal bossing	25942	SIN3A	OMIM:613406
HP:0002007	Frontal bossing	3425	IDUA	OMIM:607014
HP:0002007	Frontal bossing	3425	IDUA	ORPHA:93473
HP:0002007	Frontal bossing	6197	RPS6KA3	ORPHA:276630
HP:0002007	Frontal bossing	6197	RPS6KA3	ORPHA:192
HP:0002007	Frontal bossing	2697	GJA1	OMIM:257850
HP:0002007	Frontal bossing	3192	HNRNPU	ORPHA:238769
HP:0002007	Frontal bossing	5251	PHEX	ORPHA:89936
HP:0002007	Frontal bossing	5251	PHEX	OMIM:307800
HP:0002007	Frontal bossing	1857	DVL3	ORPHA:3107
HP:0002007	Frontal bossing	1857	DVL3	OMIM:616894
HP:0002007	Frontal bossing	2535	FZD2	ORPHA:3107
HP:0002007	Frontal bossing	2535	FZD2	OMIM:164745
HP:0002007	Frontal bossing	2535	FZD2	ORPHA:93328
HP:0002007	Frontal bossing	2332	FMR1	ORPHA:908
HP:0002007	Frontal bossing	5290	PIK3CA	ORPHA:60040
HP:0002007	Frontal bossing	285175	UNC80	OMIM:616801
HP:0002007	Frontal bossing	285175	UNC80	ORPHA:371364
HP:0002007	Frontal bossing	11128	POLR3A	OMIM:264090
HP:0002007	Frontal bossing	11128	POLR3A	ORPHA:3455
HP:0002007	Frontal bossing	23137	SMC5	OMIM:620185
HP:0002007	Frontal bossing	57459	GATAD2B	ORPHA:363686
HP:0002007	Frontal bossing	728294	D2HGDH	OMIM:600721
HP:0002007	Frontal bossing	6774	STAT3	OMIM:147060
HP:0002007	Frontal bossing	5159	PDGFRB	OMIM:601812
HP:0002007	Frontal bossing	5324	PLAG1	ORPHA:397590
HP:0002007	Frontal bossing	182	JAG1	OMIM:118450
HP:0002007	Frontal bossing	3708	ITPR1	OMIM:117360
HP:0002007	Frontal bossing	5832	ALDH18A1	OMIM:219150
HP:0002007	Frontal bossing	4221	MEN1	ORPHA:99725
HP:0002007	Frontal bossing	471	ATIC	OMIM:608688
HP:0002007	Frontal bossing	388015	RTL1	ORPHA:96334
HP:0002007	Frontal bossing	8788	DLK1	ORPHA:96334
HP:0002007	Frontal bossing	55384	MEG3	ORPHA:96334
HP:0002007	Frontal bossing	114548	NLRP3	OMIM:607115
HP:0002007	Frontal bossing	114548	NLRP3	ORPHA:1451
HP:0002007	Frontal bossing	5295	PIK3R1	OMIM:269880
HP:0002007	Frontal bossing	254065	BRWD3	OMIM:300659
HP:0002007	Frontal bossing	9652	SKIC3	OMIM:222470
HP:0002007	Frontal bossing	10661	KLF1	OMIM:613673
HP:0002007	Frontal bossing	26047	CNTNAP2	OMIM:610042
HP:0002007	Frontal bossing	729920	CRPPA	OMIM:614643
HP:0002007	Frontal bossing	1302	COL11A2	OMIM:614524
HP:0002007	Frontal bossing	1836	SLC26A2	ORPHA:93298
HP:0002007	Frontal bossing	4313	MMP2	OMIM:259600
HP:0002007	Frontal bossing	1186	CLCN7	ORPHA:53
HP:0002007	Frontal bossing	91252	SLC39A13	OMIM:612350
HP:0002007	Frontal bossing	2703	GJA8	OMIM:612474
HP:0002007	Frontal bossing	2702	GJA5	OMIM:612474
HP:0002007	Frontal bossing	867	CBL	OMIM:613563
HP:0002007	Frontal bossing	51025	PAM16	OMIM:613320
HP:0002007	Frontal bossing	27152	INTU	OMIM:617925
HP:0002007	Frontal bossing	51053	GMNN	OMIM:616835
HP:0002007	Frontal bossing	2200	FBN1	ORPHA:2462
HP:0002007	Frontal bossing	196528	ARID2	OMIM:617808
HP:0002007	Frontal bossing	8260	NAA10	ORPHA:276432
HP:0002007	Frontal bossing	3720	JARID2	OMIM:620098
HP:0002007	Frontal bossing	84181	CHD6	ORPHA:2108
HP:0002007	Frontal bossing	2245	FGD1	OMIM:305400
HP:0002007	Frontal bossing	132	ADK	OMIM:614300
HP:0002007	Frontal bossing	9759	HDAC4	ORPHA:1001
HP:0002007	Frontal bossing	11133	KPTN	OMIM:615637
HP:0002007	Frontal bossing	11133	KPTN	ORPHA:397612
HP:0002007	Frontal bossing	23028	KDM1A	OMIM:616728
HP:0002007	Frontal bossing	79650	USB1	OMIM:604173
HP:0002007	Frontal bossing	5160	PDHA1	OMIM:312170
HP:0002007	Frontal bossing	4792	NFKBIA	OMIM:612132
HP:0002007	Frontal bossing	2902	GRIN1	OMIM:617820
HP:0002007	Frontal bossing	10735	STAG2	OMIM:301022
HP:0002007	Frontal bossing	5604	MAP2K1	ORPHA:1340
HP:0002007	Frontal bossing	5605	MAP2K2	ORPHA:1340
HP:0002007	Frontal bossing	673	BRAF	ORPHA:1340
HP:0002007	Frontal bossing	29940	DSE	OMIM:615539
HP:0002007	Frontal bossing	8517	IKBKG	OMIM:300291
HP:0002007	Frontal bossing	1000	CDH2	OMIM:618929
HP:0002007	Frontal bossing	176	ACAN	OMIM:165800
HP:0002007	Frontal bossing	3758	KCNJ1	OMIM:241200
HP:0002007	Frontal bossing	25	ABL1	OMIM:617602
HP:0002007	Frontal bossing	4041	LRP5	ORPHA:2788
HP:0002007	Frontal bossing	54551	MAGEL2	OMIM:615547
HP:0002007	Frontal bossing	9419	CRIPT	OMIM:615789
HP:0002007	Frontal bossing	139285	AMER1	ORPHA:2780
HP:0002007	Frontal bossing	139285	AMER1	OMIM:300373
HP:0002007	Frontal bossing	55644	OSGEP	OMIM:617729
HP:0002007	Frontal bossing	2313	FLI1	ORPHA:2308
HP:0002007	Frontal bossing	2517	FUCA1	OMIM:230000
HP:0002007	Frontal bossing	7204	TRIO	OMIM:618825
HP:0002007	Frontal bossing	4337	MOCS1	OMIM:252150
HP:0002007	Frontal bossing	51520	LARS1	OMIM:615438
HP:0002007	Frontal bossing	80232	WDR26	OMIM:617616
HP:0002007	Frontal bossing	4329	ALDH6A1	OMIM:614105
HP:0002007	Frontal bossing	259232	NALCN	ORPHA:371364
HP:0002007	Frontal bossing	7040	TGFB1	ORPHA:1328
HP:0002007	Frontal bossing	5293	PIK3CD	ORPHA:221139
HP:0002007	Frontal bossing	90417	KNSTRN	ORPHA:221139
HP:0002007	Frontal bossing	8405	SPOP	OMIM:618829
HP:0002007	Frontal bossing	23545	ATP6V0A2	OMIM:219200
HP:0002007	Frontal bossing	128178	EDARADD	OMIM:224900
HP:0002007	Frontal bossing	10913	EDAR	OMIM:224900
HP:0002007	Frontal bossing	284252	KCTD1	OMIM:181270
HP:0002007	Frontal bossing	60401	EDA2R	ORPHA:181
HP:0002007	Frontal bossing	5500	PPP1CB	OMIM:617506
HP:0002007	Frontal bossing	6519	SLC3A1	ORPHA:163690
HP:0002007	Frontal bossing	6519	SLC3A1	ORPHA:163693
HP:0002007	Frontal bossing	9581	PREPL	ORPHA:163690
HP:0002007	Frontal bossing	9581	PREPL	ORPHA:163693
HP:0002007	Frontal bossing	84628	NTNG2	OMIM:618718
HP:0002007	Frontal bossing	113246	C12orf57	OMIM:218340
HP:0002007	Frontal bossing	5495	PPM1B	ORPHA:163693
HP:0002007	Frontal bossing	79823	CAMKMT	ORPHA:163693
HP:0002007	Frontal bossing	51	ACOX1	OMIM:264470
HP:0002007	Frontal bossing	5296	PIK3R2	OMIM:603387
HP:0002007	Frontal bossing	126792	B3GALT6	ORPHA:536467
HP:0002007	Frontal bossing	126792	B3GALT6	OMIM:615349
HP:0002007	Frontal bossing	23247	KATNIP	OMIM:616784
HP:0002007	Frontal bossing	10020	GNE	OMIM:269921
HP:0002007	Frontal bossing	8777	MPDZ	OMIM:615219
HP:0002007	Frontal bossing	5449	POU1F1	OMIM:613038
HP:0002007	Frontal bossing	23389	MED13L	OMIM:616789
HP:0002007	Frontal bossing	9757	KMT2B	OMIM:619934
HP:0002007	Frontal bossing	79583	TMEM231	ORPHA:2754
HP:0002007	Frontal bossing	10210	TOPORS	ORPHA:2754
HP:0002007	Frontal bossing	26123	TCTN3	ORPHA:2754
HP:0002007	Frontal bossing	5147	PDE6D	ORPHA:2754
HP:0002007	Frontal bossing	65250	CPLANE1	ORPHA:2754
HP:0002007	Frontal bossing	317662	FAM149B1	ORPHA:2754
HP:0002007	Frontal bossing	9469	CHST3	OMIM:245600
HP:0002007	Frontal bossing	26229	B3GAT3	OMIM:245600
HP:0002007	Frontal bossing	1280	COL2A1	OMIM:200610
HP:0002007	Frontal bossing	7543	ZFX	OMIM:301118
HP:0002007	Frontal bossing	2036	EPB41L1	OMIM:614257
HP:0002007	Frontal bossing	10736	SIX2	ORPHA:488437
HP:0002007	Frontal bossing	8398	PLA2G6	OMIM:256600
HP:0000612	Iris coloboma	3476	IGBP1	OMIM:300472
HP:0000612	Iris coloboma	3476	IGBP1	ORPHA:52055
HP:0000612	Iris coloboma	22827	PUF60	ORPHA:508498
HP:0000612	Iris coloboma	1409	CRYAA	OMIM:604219
HP:0000612	Iris coloboma	1409	CRYAA	ORPHA:1377
HP:0000612	Iris coloboma	23394	ADNP	ORPHA:404448
HP:0000612	Iris coloboma	1859	DYRK1A	ORPHA:268261
HP:0000612	Iris coloboma	406987	MIR204	OMIM:616722
HP:0000612	Iris coloboma	3265	HRAS	ORPHA:2612
HP:0000612	Iris coloboma	3845	KRAS	ORPHA:2612
HP:0000612	Iris coloboma	3845	KRAS	ORPHA:2396
HP:0000612	Iris coloboma	4893	NRAS	ORPHA:2612
HP:0000612	Iris coloboma	2260	FGFR1	OMIM:147950
HP:0000612	Iris coloboma	2260	FGFR1	ORPHA:280200
HP:0000612	Iris coloboma	2260	FGFR1	ORPHA:2396
HP:0000612	Iris coloboma	4919	ROR1	OMIM:617654
HP:0000612	Iris coloboma	145173	B3GLCT	ORPHA:709
HP:0000612	Iris coloboma	145173	B3GLCT	OMIM:261540
HP:0000612	Iris coloboma	57167	SALL4	OMIM:607323
HP:0000612	Iris coloboma	57167	SALL4	ORPHA:959
HP:0000612	Iris coloboma	57167	SALL4	ORPHA:233
HP:0000612	Iris coloboma	7473	WNT3	ORPHA:3301
HP:0000612	Iris coloboma	340419	RSPO2	ORPHA:3301
HP:0000612	Iris coloboma	9496	TBX4	ORPHA:3301
HP:0000612	Iris coloboma	9839	ZEB2	OMIM:235730
HP:0000612	Iris coloboma	9839	ZEB2	ORPHA:261552
HP:0000612	Iris coloboma	9839	ZEB2	ORPHA:261537
HP:0000612	Iris coloboma	23126	POGZ	ORPHA:468678
HP:0000612	Iris coloboma	23126	POGZ	OMIM:616364
HP:0000612	Iris coloboma	2316	FLNA	OMIM:300244
HP:0000612	Iris coloboma	2316	FLNA	ORPHA:88630
HP:0000612	Iris coloboma	116931	MED12L	OMIM:618872
HP:0000612	Iris coloboma	26610	ELP4	OMIM:617141
HP:0000612	Iris coloboma	64412	GZF1	OMIM:617662
HP:0000612	Iris coloboma	23322	RPGRIP1L	ORPHA:220497
HP:0000612	Iris coloboma	23322	RPGRIP1L	ORPHA:1454
HP:0000612	Iris coloboma	4867	NPHP1	ORPHA:220497
HP:0000612	Iris coloboma	65062	TMEM237	ORPHA:220497
HP:0000612	Iris coloboma	65062	TMEM237	ORPHA:2318
HP:0000612	Iris coloboma	65062	TMEM237	ORPHA:475
HP:0000612	Iris coloboma	54806	AHI1	ORPHA:220493
HP:0000612	Iris coloboma	54806	AHI1	ORPHA:475
HP:0000612	Iris coloboma	56623	INPP5E	ORPHA:220493
HP:0000612	Iris coloboma	56623	INPP5E	ORPHA:1454
HP:0000612	Iris coloboma	56623	INPP5E	ORPHA:475
HP:0000612	Iris coloboma	153241	CEP120	ORPHA:220493
HP:0000612	Iris coloboma	153241	CEP120	ORPHA:475
HP:0000612	Iris coloboma	54903	MKS1	ORPHA:220493
HP:0000612	Iris coloboma	54903	MKS1	ORPHA:475
HP:0000612	Iris coloboma	54903	MKS1	OMIM:249000
HP:0000612	Iris coloboma	95681	CEP41	ORPHA:220493
HP:0000612	Iris coloboma	95681	CEP41	ORPHA:475
HP:0000612	Iris coloboma	10413	YAP1	ORPHA:1473
HP:0000612	Iris coloboma	10413	YAP1	OMIM:120433
HP:0000612	Iris coloboma	3149	HMGB3	OMIM:300915
HP:0000612	Iris coloboma	1717	DHCR7	ORPHA:818
HP:0000612	Iris coloboma	26128	KIFBP	ORPHA:66629
HP:0000612	Iris coloboma	55636	CHD7	ORPHA:138
HP:0000612	Iris coloboma	55636	CHD7	OMIM:214800
HP:0000612	Iris coloboma	9723	SEMA3E	ORPHA:138
HP:0000612	Iris coloboma	84892	POMGNT2	ORPHA:899
HP:0000612	Iris coloboma	148789	B3GALNT2	ORPHA:899
HP:0000612	Iris coloboma	79147	FKRP	ORPHA:899
HP:0000612	Iris coloboma	29954	POMT2	ORPHA:899
HP:0000612	Iris coloboma	9215	LARGE1	ORPHA:899
HP:0000612	Iris coloboma	1282	COL4A1	ORPHA:899
HP:0000612	Iris coloboma	729920	CRPPA	ORPHA:899
HP:0000612	Iris coloboma	10329	RXYLT1	ORPHA:899
HP:0000612	Iris coloboma	1605	DAG1	ORPHA:899
HP:0000612	Iris coloboma	11041	B4GAT1	ORPHA:899
HP:0000612	Iris coloboma	10585	POMT1	ORPHA:899
HP:0000612	Iris coloboma	84197	POMK	ORPHA:899
HP:0000612	Iris coloboma	2218	FKTN	ORPHA:899
HP:0000612	Iris coloboma	55624	POMGNT1	ORPHA:899
HP:0000612	Iris coloboma	28514	DLL1	ORPHA:280200
HP:0000612	Iris coloboma	2253	FGF8	ORPHA:280200
HP:0000612	Iris coloboma	6496	SIX3	ORPHA:280200
HP:0000612	Iris coloboma	6496	SIX3	OMIM:157170
HP:0000612	Iris coloboma	7050	TGIF1	ORPHA:280200
HP:0000612	Iris coloboma	4838	NODAL	ORPHA:280200
HP:0000612	Iris coloboma	6469	SHH	ORPHA:280200
HP:0000612	Iris coloboma	6469	SHH	OMIM:611638
HP:0000612	Iris coloboma	51684	SUFU	ORPHA:280200
HP:0000612	Iris coloboma	51684	SUFU	ORPHA:475
HP:0000612	Iris coloboma	51684	SUFU	ORPHA:377
HP:0000612	Iris coloboma	7546	ZIC2	ORPHA:280200
HP:0000612	Iris coloboma	2619	GAS1	ORPHA:280200
HP:0000612	Iris coloboma	84976	DISP1	ORPHA:280200
HP:0000612	Iris coloboma	2736	GLI2	ORPHA:280200
HP:0000612	Iris coloboma	8928	FOXH1	ORPHA:280200
HP:0000612	Iris coloboma	6997	CRIPTO	ORPHA:280200
HP:0000612	Iris coloboma	5727	PTCH1	ORPHA:280200
HP:0000612	Iris coloboma	5727	PTCH1	OMIM:109400
HP:0000612	Iris coloboma	5727	PTCH1	OMIM:610828
HP:0000612	Iris coloboma	5727	PTCH1	ORPHA:377
HP:0000612	Iris coloboma	50937	CDON	ORPHA:280200
HP:0000612	Iris coloboma	6657	SOX2	ORPHA:77298
HP:0000612	Iris coloboma	473	RERE	ORPHA:494344
HP:0000612	Iris coloboma	220202	ATOH7	OMIM:221900
HP:0000612	Iris coloboma	54880	BCOR	ORPHA:2712
HP:0000612	Iris coloboma	54880	BCOR	ORPHA:568
HP:0000612	Iris coloboma	54880	BCOR	OMIM:309800
HP:0000612	Iris coloboma	54880	BCOR	OMIM:300166
HP:0000612	Iris coloboma	5925	RB1	ORPHA:1587
HP:0000612	Iris coloboma	4853	NOTCH2	OMIM:102500
HP:0000612	Iris coloboma	4853	NOTCH2	ORPHA:955
HP:0000612	Iris coloboma	2248	FGF3	ORPHA:2791
HP:0000612	Iris coloboma	1063	CENPF	OMIM:243605
HP:0000612	Iris coloboma	2263	FGFR2	ORPHA:207
HP:0000612	Iris coloboma	2077	ERF	ORPHA:207
HP:0000612	Iris coloboma	79583	TMEM231	ORPHA:2318
HP:0000612	Iris coloboma	51524	TMEM138	ORPHA:2318
HP:0000612	Iris coloboma	23090	ZNF423	ORPHA:2318
HP:0000612	Iris coloboma	80184	CEP290	ORPHA:2318
HP:0000612	Iris coloboma	51259	TMEM216	ORPHA:2318
HP:0000612	Iris coloboma	57545	CC2D2A	ORPHA:2318
HP:0000612	Iris coloboma	57545	CC2D2A	ORPHA:1454
HP:0000612	Iris coloboma	8260	NAA10	ORPHA:568
HP:0000612	Iris coloboma	8260	NAA10	OMIM:309800
HP:0000612	Iris coloboma	4313	MMP2	ORPHA:371428
HP:0000612	Iris coloboma	4323	MMP14	ORPHA:371428
HP:0000612	Iris coloboma	7020	TFAP2A	OMIM:113620
HP:0000612	Iris coloboma	7020	TFAP2A	ORPHA:1297
HP:0000612	Iris coloboma	10815	CPLX1	ORPHA:280
HP:0000612	Iris coloboma	10815	CPLX1	OMIM:194190
HP:0000612	Iris coloboma	54872	PIGG	ORPHA:280
HP:0000612	Iris coloboma	7469	NELFA	ORPHA:280
HP:0000612	Iris coloboma	1487	CTBP1	ORPHA:280
HP:0000612	Iris coloboma	1487	CTBP1	OMIM:194190
HP:0000612	Iris coloboma	3954	LETM1	ORPHA:280
HP:0000612	Iris coloboma	3954	LETM1	OMIM:194190
HP:0000612	Iris coloboma	7468	NSD2	ORPHA:280
HP:0000612	Iris coloboma	7468	NSD2	OMIM:194190
HP:0000612	Iris coloboma	338917	VSX2	OMIM:610092
HP:0000612	Iris coloboma	55714	TENM3	OMIM:615145
HP:0000612	Iris coloboma	523	ATP6V1A	OMIM:618012
HP:0000612	Iris coloboma	4854	NOTCH3	ORPHA:2789
HP:0000612	Iris coloboma	91147	TMEM67	ORPHA:1454
HP:0000612	Iris coloboma	91147	TMEM67	ORPHA:475
HP:0000612	Iris coloboma	4591	TRIM37	OMIM:253250
HP:0000612	Iris coloboma	5950	RBP4	OMIM:615147
HP:0000612	Iris coloboma	5950	RBP4	OMIM:616428
HP:0000612	Iris coloboma	4036	LRP2	ORPHA:2143
HP:0000612	Iris coloboma	4036	LRP2	OMIM:222448
HP:0000612	Iris coloboma	7855	FZD5	OMIM:620731
HP:0000612	Iris coloboma	25942	SIN3A	OMIM:613406
HP:0000612	Iris coloboma	79644	SRD5A3	OMIM:612713
HP:0000612	Iris coloboma	53834	FGFRL1	OMIM:194190
HP:0000612	Iris coloboma	6297	SALL2	OMIM:216820
HP:0000612	Iris coloboma	2313	FLI1	ORPHA:2308
HP:0000612	Iris coloboma	60	ACTB	OMIM:243310
HP:0000612	Iris coloboma	60	ACTB	ORPHA:2995
HP:0000612	Iris coloboma	9935	MAFB	ORPHA:233
HP:0000612	Iris coloboma	1123	CHN1	ORPHA:233
HP:0000612	Iris coloboma	9851	KIAA0753	ORPHA:475
HP:0000612	Iris coloboma	5147	PDE6D	ORPHA:475
HP:0000612	Iris coloboma	79600	TCTN1	ORPHA:475
HP:0000612	Iris coloboma	79848	CSPP1	ORPHA:475
HP:0000612	Iris coloboma	8481	OFD1	ORPHA:475
HP:0000612	Iris coloboma	65250	CPLANE1	ORPHA:475
HP:0000612	Iris coloboma	200894	ARL13B	ORPHA:475
HP:0000612	Iris coloboma	9731	CEP104	ORPHA:475
HP:0000612	Iris coloboma	219844	HYLS1	ORPHA:475
HP:0000612	Iris coloboma	23247	KATNIP	ORPHA:475
HP:0000612	Iris coloboma	219854	TMEM218	ORPHA:475
HP:0000612	Iris coloboma	9786	KIAA0586	ORPHA:475
HP:0000612	Iris coloboma	26123	TCTN3	ORPHA:475
HP:0000612	Iris coloboma	79867	TCTN2	ORPHA:475
HP:0000612	Iris coloboma	80776	B9D2	ORPHA:475
HP:0000612	Iris coloboma	10464	PIBF1	ORPHA:475
HP:0000612	Iris coloboma	80210	ARMC9	ORPHA:475
HP:0000612	Iris coloboma	23116	TOGARAM1	ORPHA:475
HP:0000612	Iris coloboma	25776	CBY1	ORPHA:475
HP:0000612	Iris coloboma	27077	B9D1	ORPHA:475
HP:0000612	Iris coloboma	403	ARL3	ORPHA:475
HP:0000612	Iris coloboma	80173	IFT74	ORPHA:475
HP:0000612	Iris coloboma	3981	LIG4	ORPHA:235
HP:0000612	Iris coloboma	54888	NSUN2	ORPHA:235
HP:0000612	Iris coloboma	64840	PORCN	OMIM:305600
HP:0000612	Iris coloboma	64840	PORCN	ORPHA:2092
HP:0000612	Iris coloboma	23347	SMCHD1	ORPHA:2250
HP:0000612	Iris coloboma	157680	VPS13B	ORPHA:193
HP:0000612	Iris coloboma	6608	SMO	OMIM:601707
HP:0000612	Iris coloboma	6608	SMO	ORPHA:1553
HP:0000612	Iris coloboma	54539	NDUFB11	OMIM:309801
HP:0000612	Iris coloboma	1349	COX7B	OMIM:309801
HP:0000612	Iris coloboma	3052	HCCS	OMIM:309801
HP:0000612	Iris coloboma	6711	SPTBN1	OMIM:619475
HP:0000612	Iris coloboma	10908	PNPLA6	ORPHA:2377
HP:0000612	Iris coloboma	286	ANK1	ORPHA:251066
HP:0000612	Iris coloboma	8085	KMT2D	OMIM:620186
HP:0000612	Iris coloboma	85365	ALG2	ORPHA:79326
HP:0000612	Iris coloboma	85365	ALG2	OMIM:607906
HP:0000612	Iris coloboma	284252	KCTD1	OMIM:181270
HP:0000612	Iris coloboma	84172	POLR1B	ORPHA:861
HP:0000612	Iris coloboma	9533	POLR1C	ORPHA:861
HP:0000612	Iris coloboma	51082	POLR1D	ORPHA:861
HP:0000612	Iris coloboma	6949	TCOF1	ORPHA:861
HP:0000612	Iris coloboma	6299	SALL1	ORPHA:857
HP:0000612	Iris coloboma	51339	DACT1	ORPHA:857
HP:0000612	Iris coloboma	9573	GDF3	OMIM:613702
HP:0000612	Iris coloboma	9338	TCEAL1	OMIM:301094
HP:0000612	Iris coloboma	113246	C12orf57	OMIM:218340
HP:0000612	Iris coloboma	7837	PXDN	OMIM:269400
HP:0000612	Iris coloboma	8643	PTCH2	ORPHA:377
HP:0000612	Iris coloboma	652	BMP4	ORPHA:139471
HP:0000612	Iris coloboma	51360	MBTPS2	ORPHA:85284
HP:0000612	Iris coloboma	57479	PRR12	OMIM:619539
HP:0000612	Iris coloboma	8777	MPDZ	OMIM:615219
HP:0000612	Iris coloboma	4094	MAF	OMIM:610202
HP:0000612	Iris coloboma	4094	MAF	ORPHA:1377
HP:0000612	Iris coloboma	4990	SIX6	OMIM:212550
HP:0000612	Iris coloboma	3166	HMX1	OMIM:612109
HP:0000612	Iris coloboma	71	ACTG1	ORPHA:2995
HP:0000612	Iris coloboma	50945	TBX22	ORPHA:921
HP:0000612	Iris coloboma	2776	GNAQ	ORPHA:3205
HP:0000612	Iris coloboma	9897	WASHC5	ORPHA:7
HP:0000612	Iris coloboma	28952	CCDC22	ORPHA:7
HP:0000612	Iris coloboma	57020	VPS35L	ORPHA:7
HP:0000612	Iris coloboma	56896	DPYSL5	ORPHA:7
HP:0000612	Iris coloboma	10195	ALG3	OMIM:601110
HP:0000612	Iris coloboma	257	ALX3	ORPHA:391474
HP:0000612	Iris coloboma	2703	GJA8	ORPHA:1377
HP:0000612	Iris coloboma	1413	CRYBA4	ORPHA:1377
HP:0000612	Iris coloboma	1415	CRYBB2	ORPHA:1377
HP:0000612	Iris coloboma	1414	CRYBB1	ORPHA:1377
HP:0000612	Iris coloboma	1420	CRYGC	ORPHA:1377
HP:0000612	Iris coloboma	1421	CRYGD	ORPHA:1377
HP:0000612	Iris coloboma	10058	ABCB6	OMIM:614497
HP:0000612	Iris coloboma	5908	RAP1B	OMIM:620654
HP:0000612	Iris coloboma	90952	ESAM	OMIM:620371
HP:0007750	Hypoplasia of the fovea	63915	BLOC1S5	OMIM:619172
HP:0007750	Hypoplasia of the fovea	22926	ATF6	ORPHA:49382
HP:0007750	Hypoplasia of the fovea	22926	ATF6	OMIM:616517
HP:0007750	Hypoplasia of the fovea	5146	PDE6C	ORPHA:49382
HP:0007750	Hypoplasia of the fovea	6103	RPGR	ORPHA:49382
HP:0007750	Hypoplasia of the fovea	5149	PDE6H	ORPHA:49382
HP:0007750	Hypoplasia of the fovea	2780	GNAT2	ORPHA:49382
HP:0007750	Hypoplasia of the fovea	1261	CNGA3	ORPHA:49382
HP:0007750	Hypoplasia of the fovea	1261	CNGA3	OMIM:216900
HP:0007750	Hypoplasia of the fovea	54714	CNGB3	ORPHA:49382
HP:0007750	Hypoplasia of the fovea	778	CACNA1F	ORPHA:178333
HP:0007750	Hypoplasia of the fovea	778	CACNA1F	OMIM:300600
HP:0007750	Hypoplasia of the fovea	5080	PAX6	ORPHA:250923
HP:0007750	Hypoplasia of the fovea	5080	PAX6	ORPHA:2334
HP:0007750	Hypoplasia of the fovea	5080	PAX6	OMIM:136520
HP:0007750	Hypoplasia of the fovea	5080	PAX6	OMIM:604229
HP:0007750	Hypoplasia of the fovea	5080	PAX6	OMIM:106210
HP:0007750	Hypoplasia of the fovea	2296	FOXC1	ORPHA:250923
HP:0007750	Hypoplasia of the fovea	54765	TRIM44	ORPHA:250923
HP:0007750	Hypoplasia of the fovea	283652	SLC24A5	OMIM:113750
HP:0007750	Hypoplasia of the fovea	57479	PRR12	OMIM:619539
HP:0007750	Hypoplasia of the fovea	7299	TYR	OMIM:203100
HP:0007750	Hypoplasia of the fovea	7299	TYR	ORPHA:79431
HP:0007750	Hypoplasia of the fovea	7299	TYR	ORPHA:79434
HP:0007750	Hypoplasia of the fovea	4157	MC1R	OMIM:203200
HP:0007750	Hypoplasia of the fovea	4157	MC1R	ORPHA:79432
HP:0007750	Hypoplasia of the fovea	4948	OCA2	OMIM:203200
HP:0007750	Hypoplasia of the fovea	4948	OCA2	ORPHA:79432
HP:0007750	Hypoplasia of the fovea	7360	UGP2	OMIM:618744
HP:0007750	Hypoplasia of the fovea	92154	MTSS2	OMIM:620086
HP:0007750	Hypoplasia of the fovea	8943	AP3D1	ORPHA:54
HP:0007750	Hypoplasia of the fovea	4935	GPR143	ORPHA:54
HP:0007750	Hypoplasia of the fovea	4935	GPR143	OMIM:300500
HP:0007750	Hypoplasia of the fovea	146167	SLC38A8	OMIM:609218
HP:0007750	Hypoplasia of the fovea	89781	HPS4	OMIM:614073
HP:0007750	Hypoplasia of the fovea	11234	HPS5	OMIM:614074
HP:0007750	Hypoplasia of the fovea	388552	BLOC1S3	OMIM:614077
HP:0007750	Hypoplasia of the fovea	1638	DCT	OMIM:619165
HP:0007750	Hypoplasia of the fovea	157657	CFAP418	OMIM:617406
HP:0007750	Hypoplasia of the fovea	7855	FZD5	OMIM:620731
HP:0007750	Hypoplasia of the fovea	3708	ITPR1	OMIM:206700
HP:0007750	Hypoplasia of the fovea	392255	GDF6	OMIM:613703
HP:0007750	Hypoplasia of the fovea	9573	GDF3	OMIM:613703
HP:0007750	Hypoplasia of the fovea	8517	IKBKG	OMIM:308300
HP:0007750	Hypoplasia of the fovea	7490	WT1	OMIM:106210
HP:0007750	Hypoplasia of the fovea	60386	SLC25A19	OMIM:607196
HP:0007750	Hypoplasia of the fovea	51151	SLC45A2	ORPHA:79435
HP:0007750	Hypoplasia of the fovea	4758	NEU1	ORPHA:93400
HP:0000648	Optic atrophy	26191	PTPN22	ORPHA:397
HP:0000648	Optic atrophy	3106	HLA-B	ORPHA:397
HP:0000648	Optic atrophy	3123	HLA-DRB1	ORPHA:397
HP:0000648	Optic atrophy	8974	P4HA2	ORPHA:397
HP:0000648	Optic atrophy	875	CBS	ORPHA:394
HP:0000648	Optic atrophy	2218	FKTN	ORPHA:272
HP:0000648	Optic atrophy	2218	FKTN	ORPHA:588
HP:0000648	Optic atrophy	2218	FKTN	OMIM:236670
HP:0000648	Optic atrophy	2218	FKTN	ORPHA:899
HP:0000648	Optic atrophy	2218	FKTN	OMIM:253800
HP:0000648	Optic atrophy	4524	MTHFR	ORPHA:395
HP:0000648	Optic atrophy	55703	POLR3B	OMIM:614381
HP:0000648	Optic atrophy	55703	POLR3B	OMIM:607694
HP:0000648	Optic atrophy	10617	STAMBP	OMIM:614261
HP:0000648	Optic atrophy	26235	FBXL4	OMIM:615471
HP:0000648	Optic atrophy	4099	MAG	OMIM:616680
HP:0000648	Optic atrophy	51256	TBC1D7	OMIM:248000
HP:0000648	Optic atrophy	1763	DNA2	OMIM:620819
HP:0000648	Optic atrophy	55823	VPS11	OMIM:616683
HP:0000648	Optic atrophy	55823	VPS11	ORPHA:466934
HP:0000648	Optic atrophy	27247	NFU1	OMIM:620938
HP:0000648	Optic atrophy	23446	SLC44A1	OMIM:618868
HP:0000648	Optic atrophy	8518	ELP1	ORPHA:1764
HP:0000648	Optic atrophy	201595	STT3B	OMIM:615597
HP:0000648	Optic atrophy	201595	STT3B	ORPHA:370924
HP:0000648	Optic atrophy	10059	DNM1L	OMIM:614388
HP:0000648	Optic atrophy	10059	DNM1L	OMIM:610708
HP:0000648	Optic atrophy	10059	DNM1L	ORPHA:330050
HP:0000648	Optic atrophy	10059	DNM1L	ORPHA:98673
HP:0000648	Optic atrophy	4897	NRCAM	OMIM:619833
HP:0000648	Optic atrophy	2720	GLB1	OMIM:230600
HP:0000648	Optic atrophy	84334	COA8	ORPHA:436271
HP:0000648	Optic atrophy	1786	DNMT1	ORPHA:314404
HP:0000648	Optic atrophy	1786	DNMT1	OMIM:604121
HP:0000648	Optic atrophy	755	CFAP410	OMIM:602271
HP:0000648	Optic atrophy	84942	WDR73	OMIM:251300
HP:0000648	Optic atrophy	84942	WDR73	ORPHA:83472
HP:0000648	Optic atrophy	4693	NDP	OMIM:310600
HP:0000648	Optic atrophy	4693	NDP	ORPHA:649
HP:0000648	Optic atrophy	1736	DKC1	OMIM:305000
HP:0000648	Optic atrophy	51	ACOX1	ORPHA:2971
HP:0000648	Optic atrophy	51	ACOX1	OMIM:264470
HP:0000648	Optic atrophy	1161	ERCC8	ORPHA:90321
HP:0000648	Optic atrophy	1161	ERCC8	OMIM:216400
HP:0000648	Optic atrophy	2072	ERCC4	ORPHA:90321
HP:0000648	Optic atrophy	2072	ERCC4	OMIM:610965
HP:0000648	Optic atrophy	2072	ERCC4	ORPHA:910
HP:0000648	Optic atrophy	2072	ERCC4	ORPHA:220295
HP:0000648	Optic atrophy	2074	ERCC6	ORPHA:90321
HP:0000648	Optic atrophy	2074	ERCC6	OMIM:278800
HP:0000648	Optic atrophy	2074	ERCC6	OMIM:133540
HP:0000648	Optic atrophy	2074	ERCC6	ORPHA:1466
HP:0000648	Optic atrophy	6687	SPG7	ORPHA:99013
HP:0000648	Optic atrophy	6687	SPG7	OMIM:607259
HP:0000648	Optic atrophy	5631	PRPS1	ORPHA:99014
HP:0000648	Optic atrophy	5631	PRPS1	OMIM:301835
HP:0000648	Optic atrophy	5631	PRPS1	ORPHA:1187
HP:0000648	Optic atrophy	5631	PRPS1	OMIM:311070
HP:0000648	Optic atrophy	1729	DIAPH1	ORPHA:477814
HP:0000648	Optic atrophy	1729	DIAPH1	OMIM:616632
HP:0000648	Optic atrophy	5354	PLP1	ORPHA:99015
HP:0000648	Optic atrophy	5354	PLP1	ORPHA:280234
HP:0000648	Optic atrophy	5354	PLP1	OMIM:312080
HP:0000648	Optic atrophy	5354	PLP1	OMIM:312920
HP:0000648	Optic atrophy	57165	GJC2	OMIM:608804
HP:0000648	Optic atrophy	4535	MT-ND1	ORPHA:255210
HP:0000648	Optic atrophy	4535	MT-ND1	ORPHA:104
HP:0000648	Optic atrophy	4535	MT-ND1	OMIM:535000
HP:0000648	Optic atrophy	4535	MT-ND1	ORPHA:550
HP:0000648	Optic atrophy	4536	MT-ND2	ORPHA:255210
HP:0000648	Optic atrophy	4536	MT-ND2	ORPHA:104
HP:0000648	Optic atrophy	4536	MT-ND2	OMIM:535000
HP:0000648	Optic atrophy	4537	MT-ND3	ORPHA:255210
HP:0000648	Optic atrophy	4538	MT-ND4	ORPHA:255210
HP:0000648	Optic atrophy	4538	MT-ND4	ORPHA:104
HP:0000648	Optic atrophy	4538	MT-ND4	OMIM:535000
HP:0000648	Optic atrophy	4538	MT-ND4	ORPHA:550
HP:0000648	Optic atrophy	4567	MT-TL1	ORPHA:255210
HP:0000648	Optic atrophy	4567	MT-TL1	ORPHA:551
HP:0000648	Optic atrophy	4567	MT-TL1	ORPHA:550
HP:0000648	Optic atrophy	4578	MT-TW	ORPHA:255210
HP:0000648	Optic atrophy	4578	MT-TW	ORPHA:550
HP:0000648	Optic atrophy	4577	MT-TV	ORPHA:255210
HP:0000648	Optic atrophy	4508	MT-ATP6	ORPHA:255210
HP:0000648	Optic atrophy	4508	MT-ATP6	ORPHA:104
HP:0000648	Optic atrophy	4508	MT-ATP6	OMIM:535000
HP:0000648	Optic atrophy	4508	MT-ATP6	ORPHA:320360
HP:0000648	Optic atrophy	4508	MT-ATP6	ORPHA:225154
HP:0000648	Optic atrophy	4508	MT-ATP6	ORPHA:254913
HP:0000648	Optic atrophy	4540	MT-ND5	ORPHA:255210
HP:0000648	Optic atrophy	4540	MT-ND5	ORPHA:104
HP:0000648	Optic atrophy	4540	MT-ND5	OMIM:535000
HP:0000648	Optic atrophy	4540	MT-ND5	ORPHA:551
HP:0000648	Optic atrophy	4540	MT-ND5	ORPHA:550
HP:0000648	Optic atrophy	4541	MT-ND6	ORPHA:255210
HP:0000648	Optic atrophy	4541	MT-ND6	ORPHA:104
HP:0000648	Optic atrophy	4541	MT-ND6	OMIM:535000
HP:0000648	Optic atrophy	4541	MT-ND6	ORPHA:550
HP:0000648	Optic atrophy	4566	MT-TK	ORPHA:255210
HP:0000648	Optic atrophy	4566	MT-TK	ORPHA:551
HP:0000648	Optic atrophy	8566	PDXK	OMIM:618511
HP:0000648	Optic atrophy	65993	MRPS34	OMIM:617664
HP:0000648	Optic atrophy	6536	SLC6A9	OMIM:617301
HP:0000648	Optic atrophy	51741	WWOX	OMIM:616211
HP:0000648	Optic atrophy	51741	WWOX	ORPHA:442835
HP:0000648	Optic atrophy	51741	WWOX	OMIM:614322
HP:0000648	Optic atrophy	200205	IBA57	OMIM:616451
HP:0000648	Optic atrophy	200205	IBA57	ORPHA:468661
HP:0000648	Optic atrophy	200205	IBA57	OMIM:615330
HP:0000648	Optic atrophy	26504	CNNM4	ORPHA:1873
HP:0000648	Optic atrophy	79639	TMEM53	OMIM:619727
HP:0000648	Optic atrophy	65082	VPS33A	OMIM:617303
HP:0000648	Optic atrophy	65082	VPS33A	ORPHA:505248
HP:0000648	Optic atrophy	10730	YME1L1	OMIM:617302
HP:0000648	Optic atrophy	3145	HMBS	OMIM:620711
HP:0000648	Optic atrophy	51112	TRAPPC12	OMIM:617669
HP:0000648	Optic atrophy	51112	TRAPPC12	ORPHA:500144
HP:0000648	Optic atrophy	55768	NGLY1	ORPHA:404454
HP:0000648	Optic atrophy	55636	CHD7	ORPHA:138
HP:0000648	Optic atrophy	9723	SEMA3E	ORPHA:138
HP:0000648	Optic atrophy	50964	SOST	ORPHA:1513
HP:0000648	Optic atrophy	50964	SOST	OMIM:122860
HP:0000648	Optic atrophy	50964	SOST	ORPHA:3152
HP:0000648	Optic atrophy	50964	SOST	OMIM:269500
HP:0000648	Optic atrophy	121340	SP7	ORPHA:1513
HP:0000648	Optic atrophy	6660	SOX5	ORPHA:313892
HP:0000648	Optic atrophy	6660	SOX5	OMIM:616803
HP:0000648	Optic atrophy	410	ARSA	ORPHA:309271
HP:0000648	Optic atrophy	410	ARSA	ORPHA:309263
HP:0000648	Optic atrophy	410	ARSA	OMIM:250100
HP:0000648	Optic atrophy	410	ARSA	ORPHA:309256
HP:0000648	Optic atrophy	5660	PSAP	ORPHA:309271
HP:0000648	Optic atrophy	5660	PSAP	ORPHA:309263
HP:0000648	Optic atrophy	5660	PSAP	OMIM:611721
HP:0000648	Optic atrophy	5660	PSAP	ORPHA:309256
HP:0000648	Optic atrophy	5660	PSAP	ORPHA:206436
HP:0000648	Optic atrophy	7345	UCHL1	OMIM:615491
HP:0000648	Optic atrophy	7345	UCHL1	OMIM:620221
HP:0000648	Optic atrophy	284058	KANSL1	ORPHA:363958
HP:0000648	Optic atrophy	284058	KANSL1	ORPHA:363965
HP:0000648	Optic atrophy	5105	PCK1	OMIM:261680
HP:0000648	Optic atrophy	3423	IDS	ORPHA:217085
HP:0000648	Optic atrophy	3423	IDS	ORPHA:217093
HP:0000648	Optic atrophy	56172	ANKH	OMIM:123000
HP:0000648	Optic atrophy	7994	KAT6A	ORPHA:457193
HP:0000648	Optic atrophy	7994	KAT6A	OMIM:616268
HP:0000648	Optic atrophy	9326	ZNHIT3	ORPHA:2836
HP:0000648	Optic atrophy	9326	ZNHIT3	OMIM:260565
HP:0000648	Optic atrophy	55681	SCYL2	OMIM:618766
HP:0000648	Optic atrophy	85465	SELENOI	OMIM:618768
HP:0000648	Optic atrophy	2697	GJA1	ORPHA:2710
HP:0000648	Optic atrophy	2697	GJA1	OMIM:218400
HP:0000648	Optic atrophy	157680	VPS13B	OMIM:216550
HP:0000648	Optic atrophy	157680	VPS13B	ORPHA:193
HP:0000648	Optic atrophy	9401	RECQL4	OMIM:218600
HP:0000648	Optic atrophy	55149	MTPAP	ORPHA:254343
HP:0000648	Optic atrophy	55149	MTPAP	OMIM:613672
HP:0000648	Optic atrophy	171023	ASXL1	ORPHA:97297
HP:0000648	Optic atrophy	10484	SEC23A	OMIM:607812
HP:0000648	Optic atrophy	10815	CPLX1	ORPHA:280
HP:0000648	Optic atrophy	54872	PIGG	ORPHA:280
HP:0000648	Optic atrophy	7469	NELFA	ORPHA:280
HP:0000648	Optic atrophy	1487	CTBP1	ORPHA:280
HP:0000648	Optic atrophy	3954	LETM1	ORPHA:280
HP:0000648	Optic atrophy	3954	LETM1	OMIM:620089
HP:0000648	Optic atrophy	7468	NSD2	ORPHA:280
HP:0000648	Optic atrophy	22872	SEC31A	OMIM:618651
HP:0000648	Optic atrophy	83636	C19orf12	OMIM:614298
HP:0000648	Optic atrophy	83636	C19orf12	OMIM:615043
HP:0000648	Optic atrophy	5833	PCYT2	OMIM:618770
HP:0000648	Optic atrophy	7466	WFS1	OMIM:614296
HP:0000648	Optic atrophy	7466	WFS1	OMIM:222300
HP:0000648	Optic atrophy	7466	WFS1	ORPHA:3463
HP:0000648	Optic atrophy	7466	WFS1	ORPHA:411590
HP:0000648	Optic atrophy	388962	BOLA3	OMIM:614299
HP:0000648	Optic atrophy	1201	CLN3	OMIM:204200
HP:0000648	Optic atrophy	284184	NDUFAF8	OMIM:618776
HP:0000648	Optic atrophy	79731	NARS2	OMIM:616239
HP:0000648	Optic atrophy	89910	UBE3B	ORPHA:2707
HP:0000648	Optic atrophy	3737	KCNA2	ORPHA:442835
HP:0000648	Optic atrophy	1759	DNM1	ORPHA:442835
HP:0000648	Optic atrophy	1759	DNM1	OMIM:620352
HP:0000648	Optic atrophy	8120	AP3B2	ORPHA:442835
HP:0000648	Optic atrophy	523	ATP6V1A	ORPHA:442835
HP:0000648	Optic atrophy	523	ATP6V1A	OMIM:618012
HP:0000648	Optic atrophy	10991	SLC38A3	ORPHA:442835
HP:0000648	Optic atrophy	51343	FZR1	ORPHA:442835
HP:0000648	Optic atrophy	3747	KCNC2	ORPHA:442835
HP:0000648	Optic atrophy	1917	EEF1A2	ORPHA:442835
HP:0000648	Optic atrophy	23219	FBXO28	ORPHA:442835
HP:0000648	Optic atrophy	2561	GABRB2	ORPHA:442835
HP:0000648	Optic atrophy	8831	SYNGAP1	ORPHA:442835
HP:0000648	Optic atrophy	2558	GABRA5	ORPHA:442835
HP:0000648	Optic atrophy	2906	GRIN2D	ORPHA:442835
HP:0000648	Optic atrophy	116150	NUS1	ORPHA:442835
HP:0000648	Optic atrophy	1213	CLTC	ORPHA:442835
HP:0000648	Optic atrophy	23334	SZT2	ORPHA:442835
HP:0000648	Optic atrophy	348980	HCN1	ORPHA:442835
HP:0000648	Optic atrophy	25977	NECAP1	ORPHA:442835
HP:0000648	Optic atrophy	23241	PACS2	ORPHA:442835
HP:0000648	Optic atrophy	16	AARS1	ORPHA:442835
HP:0000648	Optic atrophy	6334	SCN8A	ORPHA:442835
HP:0000648	Optic atrophy	9568	GABBR2	ORPHA:442835
HP:0000648	Optic atrophy	2555	GABRA2	ORPHA:442835
HP:0000648	Optic atrophy	55152	DALRD3	ORPHA:442835
HP:0000648	Optic atrophy	26999	CYFIP2	ORPHA:442835
HP:0000648	Optic atrophy	4915	NTRK2	ORPHA:442835
HP:0000648	Optic atrophy	4915	NTRK2	OMIM:617830
HP:0000648	Optic atrophy	25973	PARS2	ORPHA:442835
HP:0000648	Optic atrophy	25973	PARS2	OMIM:618437
HP:0000648	Optic atrophy	23097	CDK19	ORPHA:442835
HP:0000648	Optic atrophy	2257	FGF12	ORPHA:442835
HP:0000648	Optic atrophy	5530	PPP3CA	ORPHA:442835
HP:0000648	Optic atrophy	478	ATP1A3	ORPHA:442835
HP:0000648	Optic atrophy	478	ATP1A3	OMIM:601338
HP:0000648	Optic atrophy	478	ATP1A3	ORPHA:1171
HP:0000648	Optic atrophy	22906	TRAK1	ORPHA:442835
HP:0000648	Optic atrophy	2566	GABRG2	ORPHA:442835
HP:0000648	Optic atrophy	7532	YWHAG	ORPHA:442835
HP:0000648	Optic atrophy	79876	UBA5	ORPHA:442835
HP:0000648	Optic atrophy	6328	SCN3A	ORPHA:442835
HP:0000648	Optic atrophy	781	CACNA2D1	ORPHA:442835
HP:0000648	Optic atrophy	10659	CELF2	ORPHA:442835
HP:0000648	Optic atrophy	774	CACNA1B	ORPHA:442835
HP:0000648	Optic atrophy	51412	ACTL6B	ORPHA:442835
HP:0000648	Optic atrophy	2290	FOXG1	ORPHA:442835
HP:0000648	Optic atrophy	6506	SLC1A2	ORPHA:442835
HP:0000648	Optic atrophy	8867	SYNJ1	ORPHA:442835
HP:0000648	Optic atrophy	477	ATP1A2	ORPHA:442835
HP:0000648	Optic atrophy	3745	KCNB1	ORPHA:442835
HP:0000648	Optic atrophy	284111	SLC13A5	ORPHA:442835
HP:0000648	Optic atrophy	22866	CNKSR2	ORPHA:442835
HP:0000648	Optic atrophy	773	CACNA1A	ORPHA:442835
HP:0000648	Optic atrophy	6323	SCN1A	ORPHA:442835
HP:0000648	Optic atrophy	79947	DHDDS	ORPHA:442835
HP:0000648	Optic atrophy	79947	DHDDS	ORPHA:791
HP:0000648	Optic atrophy	6905	TBCE	OMIM:617207
HP:0000648	Optic atrophy	6905	TBCE	ORPHA:496756
HP:0000648	Optic atrophy	9927	MFN2	OMIM:601152
HP:0000648	Optic atrophy	9927	MFN2	OMIM:609260
HP:0000648	Optic atrophy	9927	MFN2	OMIM:617087
HP:0000648	Optic atrophy	9927	MFN2	ORPHA:99947
HP:0000648	Optic atrophy	1499	CTNNB1	ORPHA:54595
HP:0000648	Optic atrophy	1499	CTNNB1	OMIM:615075
HP:0000648	Optic atrophy	673	BRAF	ORPHA:54595
HP:0000648	Optic atrophy	673	BRAF	ORPHA:1340
HP:0000648	Optic atrophy	8241	RBM10	OMIM:311900
HP:0000648	Optic atrophy	8241	RBM10	ORPHA:2886
HP:0000648	Optic atrophy	25794	FSCN2	OMIM:607921
HP:0000648	Optic atrophy	25794	FSCN2	ORPHA:791
HP:0000648	Optic atrophy	1182	CLCN3	OMIM:619512
HP:0000648	Optic atrophy	91574	MTRFR	OMIM:615035
HP:0000648	Optic atrophy	91574	MTRFR	ORPHA:320375
HP:0000648	Optic atrophy	91574	MTRFR	ORPHA:254930
HP:0000648	Optic atrophy	91574	MTRFR	OMIM:613559
HP:0000648	Optic atrophy	23126	POGZ	OMIM:616364
HP:0000648	Optic atrophy	23126	POGZ	ORPHA:468678
HP:0000648	Optic atrophy	27125	AFF4	OMIM:616368
HP:0000648	Optic atrophy	92609	TIMM50	OMIM:617698
HP:0000648	Optic atrophy	92609	TIMM50	ORPHA:505216
HP:0000648	Optic atrophy	51692	CPSF3	OMIM:619876
HP:0000648	Optic atrophy	3098	HK1	OMIM:618547
HP:0000648	Optic atrophy	150468	CKAP2L	OMIM:272440
HP:0000648	Optic atrophy	150468	CKAP2L	ORPHA:3255
HP:0000648	Optic atrophy	5590	PRKCZ	ORPHA:1606
HP:0000648	Optic atrophy	2563	GABRD	ORPHA:1606
HP:0000648	Optic atrophy	23013	SPEN	ORPHA:1606
HP:0000648	Optic atrophy	8510	MMP23B	ORPHA:1606
HP:0000648	Optic atrophy	7798	LUZP1	ORPHA:1606
HP:0000648	Optic atrophy	6497	SKI	ORPHA:1606
HP:0000648	Optic atrophy	10630	PDPN	ORPHA:1606
HP:0000648	Optic atrophy	3339	HSPG2	ORPHA:1606
HP:0000648	Optic atrophy	10277	UBE4B	ORPHA:1606
HP:0000648	Optic atrophy	8514	KCNAB2	ORPHA:1606
HP:0000648	Optic atrophy	473	RERE	ORPHA:1606
HP:0000648	Optic atrophy	473	RERE	ORPHA:494344
HP:0000648	Optic atrophy	473	RERE	OMIM:616975
HP:0000648	Optic atrophy	63976	PRDM16	ORPHA:1606
HP:0000648	Optic atrophy	54897	CASZ1	ORPHA:1606
HP:0000648	Optic atrophy	84277	DNAJC30	ORPHA:104
HP:0000648	Optic atrophy	4720	NDUFS2	ORPHA:104
HP:0000648	Optic atrophy	4720	NDUFS2	OMIM:618228
HP:0000648	Optic atrophy	4720	NDUFS2	OMIM:620569
HP:0000648	Optic atrophy	4512	MT-CO1	ORPHA:104
HP:0000648	Optic atrophy	4512	MT-CO1	ORPHA:550
HP:0000648	Optic atrophy	4514	MT-CO3	ORPHA:104
HP:0000648	Optic atrophy	4514	MT-CO3	OMIM:535000
HP:0000648	Optic atrophy	4514	MT-CO3	ORPHA:550
HP:0000648	Optic atrophy	4519	MT-CYB	ORPHA:104
HP:0000648	Optic atrophy	4519	MT-CYB	OMIM:535000
HP:0000648	Optic atrophy	4519	MT-CYB	ORPHA:137675
HP:0000648	Optic atrophy	4539	MT-ND4L	ORPHA:104
HP:0000648	Optic atrophy	4539	MT-ND4L	OMIM:535000
HP:0000648	Optic atrophy	148789	B3GALNT2	ORPHA:588
HP:0000648	Optic atrophy	148789	B3GALNT2	ORPHA:899
HP:0000648	Optic atrophy	29925	GMPPB	ORPHA:588
HP:0000648	Optic atrophy	29925	GMPPB	ORPHA:370959
HP:0000648	Optic atrophy	79147	FKRP	ORPHA:588
HP:0000648	Optic atrophy	79147	FKRP	OMIM:236670
HP:0000648	Optic atrophy	79147	FKRP	ORPHA:899
HP:0000648	Optic atrophy	79147	FKRP	ORPHA:370959
HP:0000648	Optic atrophy	9215	LARGE1	ORPHA:588
HP:0000648	Optic atrophy	9215	LARGE1	OMIM:236670
HP:0000648	Optic atrophy	9215	LARGE1	ORPHA:899
HP:0000648	Optic atrophy	9215	LARGE1	OMIM:613154
HP:0000648	Optic atrophy	29954	POMT2	ORPHA:588
HP:0000648	Optic atrophy	29954	POMT2	OMIM:236670
HP:0000648	Optic atrophy	29954	POMT2	ORPHA:899
HP:0000648	Optic atrophy	29954	POMT2	ORPHA:370959
HP:0000648	Optic atrophy	729920	CRPPA	ORPHA:588
HP:0000648	Optic atrophy	729920	CRPPA	ORPHA:899
HP:0000648	Optic atrophy	55624	POMGNT1	ORPHA:588
HP:0000648	Optic atrophy	55624	POMGNT1	ORPHA:791
HP:0000648	Optic atrophy	55624	POMGNT1	ORPHA:899
HP:0000648	Optic atrophy	55624	POMGNT1	ORPHA:370959
HP:0000648	Optic atrophy	55624	POMGNT1	OMIM:253280
HP:0000648	Optic atrophy	55624	POMGNT1	OMIM:613151
HP:0000648	Optic atrophy	10585	POMT1	ORPHA:588
HP:0000648	Optic atrophy	10585	POMT1	OMIM:236670
HP:0000648	Optic atrophy	10585	POMT1	ORPHA:899
HP:0000648	Optic atrophy	10585	POMT1	ORPHA:370959
HP:0000648	Optic atrophy	285362	SUMF1	ORPHA:585
HP:0000648	Optic atrophy	55210	ATAD3A	ORPHA:496790
HP:0000648	Optic atrophy	55210	ATAD3A	OMIM:617183
HP:0000648	Optic atrophy	4644	MYO5A	ORPHA:33445
HP:0000648	Optic atrophy	8818	DPM2	OMIM:615042
HP:0000648	Optic atrophy	8818	DPM2	ORPHA:329178
HP:0000648	Optic atrophy	122961	ISCA2	OMIM:616370
HP:0000648	Optic atrophy	8733	GPAA1	ORPHA:529665
HP:0000648	Optic atrophy	8733	GPAA1	OMIM:617810
HP:0000648	Optic atrophy	2232	FDXR	ORPHA:543470
HP:0000648	Optic atrophy	2232	FDXR	OMIM:617717
HP:0000648	Optic atrophy	51102	MECR	OMIM:620629
HP:0000648	Optic atrophy	51102	MECR	OMIM:617282
HP:0000648	Optic atrophy	51102	MECR	ORPHA:508093
HP:0000648	Optic atrophy	4849	CNOT3	OMIM:618672
HP:0000648	Optic atrophy	56947	MFF	ORPHA:485421
HP:0000648	Optic atrophy	56947	MFF	OMIM:617086
HP:0000648	Optic atrophy	4982	TNFRSF11B	ORPHA:2801
HP:0000648	Optic atrophy	8792	TNFRSF11A	ORPHA:2801
HP:0000648	Optic atrophy	8792	TNFRSF11A	OMIM:612301
HP:0000648	Optic atrophy	8792	TNFRSF11A	ORPHA:1782
HP:0000648	Optic atrophy	2263	FGFR2	OMIM:123790
HP:0000648	Optic atrophy	2263	FGFR2	ORPHA:794
HP:0000648	Optic atrophy	2263	FGFR2	OMIM:123500
HP:0000648	Optic atrophy	2263	FGFR2	ORPHA:207
HP:0000648	Optic atrophy	2263	FGFR2	ORPHA:87
HP:0000648	Optic atrophy	2263	FGFR2	ORPHA:1555
HP:0000648	Optic atrophy	9562	MINPP1	OMIM:619527
HP:0000648	Optic atrophy	9562	MINPP1	ORPHA:284339
HP:0000648	Optic atrophy	256471	MFSD8	OMIM:610951
HP:0000648	Optic atrophy	7841	MOGS	ORPHA:79330
HP:0000648	Optic atrophy	7841	MOGS	OMIM:606056
HP:0000648	Optic atrophy	56652	TWNK	OMIM:271245
HP:0000648	Optic atrophy	56652	TWNK	ORPHA:1186
HP:0000648	Optic atrophy	2271	FH	OMIM:606812
HP:0000648	Optic atrophy	5981	RFC1	ORPHA:504476
HP:0000648	Optic atrophy	197258	FCSK	OMIM:618324
HP:0000648	Optic atrophy	2395	FXN	OMIM:229300
HP:0000648	Optic atrophy	2395	FXN	ORPHA:95
HP:0000648	Optic atrophy	10463	SLC30A9	OMIM:617595
HP:0000648	Optic atrophy	125988	MICOS13	OMIM:618329
HP:0000648	Optic atrophy	84168	ANTXR1	OMIM:230740
HP:0000648	Optic atrophy	84168	ANTXR1	ORPHA:2067
HP:0000648	Optic atrophy	25836	NIPBL	OMIM:122470
HP:0000648	Optic atrophy	9725	TMEM63A	OMIM:618688
HP:0000648	Optic atrophy	8813	DPM1	ORPHA:79322
HP:0000648	Optic atrophy	8813	DPM1	OMIM:608799
HP:0000648	Optic atrophy	9526	MPDU1	ORPHA:79323
HP:0000648	Optic atrophy	9526	MPDU1	OMIM:609180
HP:0000648	Optic atrophy	79053	ALG8	ORPHA:79325
HP:0000648	Optic atrophy	57192	MCOLN1	OMIM:252650
HP:0000648	Optic atrophy	1967	EIF2B1	OMIM:603896
HP:0000648	Optic atrophy	10195	ALG3	OMIM:601110
HP:0000648	Optic atrophy	10533	ATG7	OMIM:619422
HP:0000648	Optic atrophy	91137	SLC25A46	OMIM:619303
HP:0000648	Optic atrophy	91137	SLC25A46	ORPHA:2254
HP:0000648	Optic atrophy	91137	SLC25A46	OMIM:616505
HP:0000648	Optic atrophy	58497	PRUNE1	OMIM:617481
HP:0000648	Optic atrophy	58497	PRUNE1	ORPHA:544469
HP:0000648	Optic atrophy	133686	NADK2	OMIM:616034
HP:0000648	Optic atrophy	55656	INTS8	OMIM:618572
HP:0000648	Optic atrophy	11232	POLG2	OMIM:619425
HP:0000648	Optic atrophy	835	CASP2	OMIM:620653
HP:0000648	Optic atrophy	8905	AP1S2	OMIM:304340
HP:0000648	Optic atrophy	9900	SV2A	OMIM:620772
HP:0000648	Optic atrophy	4594	MMUT	ORPHA:79312
HP:0000648	Optic atrophy	4594	MMUT	ORPHA:289916
HP:0000648	Optic atrophy	7291	TWIST1	ORPHA:794
HP:0000648	Optic atrophy	2261	FGFR3	ORPHA:794
HP:0000648	Optic atrophy	2261	FGFR3	ORPHA:93262
HP:0000648	Optic atrophy	4558	MT-TF	ORPHA:551
HP:0000648	Optic atrophy	4558	MT-TF	ORPHA:550
HP:0000648	Optic atrophy	4549	MT-RNR1	ORPHA:551
HP:0000648	Optic atrophy	4574	MT-TS1	ORPHA:551
HP:0000648	Optic atrophy	4574	MT-TS1	ORPHA:550
HP:0000648	Optic atrophy	4574	MT-TS1	OMIM:220110
HP:0000648	Optic atrophy	4575	MT-TS2	ORPHA:551
HP:0000648	Optic atrophy	4575	MT-TS2	ORPHA:550
HP:0000648	Optic atrophy	4571	MT-TP	ORPHA:551
HP:0000648	Optic atrophy	4572	MT-TQ	ORPHA:551
HP:0000648	Optic atrophy	4572	MT-TQ	ORPHA:550
HP:0000648	Optic atrophy	4564	MT-TH	ORPHA:551
HP:0000648	Optic atrophy	4564	MT-TH	ORPHA:550
HP:0000648	Optic atrophy	3912	LAMB1	OMIM:615191
HP:0000648	Optic atrophy	3912	LAMB1	ORPHA:352682
HP:0000648	Optic atrophy	4513	MT-CO2	ORPHA:550
HP:0000648	Optic atrophy	92840	REEP6	ORPHA:791
HP:0000648	Optic atrophy	6094	ROM1	ORPHA:791
HP:0000648	Optic atrophy	6017	RLBP1	ORPHA:791
HP:0000648	Optic atrophy	7401	CLRN1	ORPHA:791
HP:0000648	Optic atrophy	24	ABCA4	ORPHA:791
HP:0000648	Optic atrophy	130557	ZNF513	ORPHA:791
HP:0000648	Optic atrophy	582	BBS1	ORPHA:791
HP:0000648	Optic atrophy	92211	CDHR1	ORPHA:791
HP:0000648	Optic atrophy	23568	ARL2BP	ORPHA:791
HP:0000648	Optic atrophy	6121	RPE65	ORPHA:791
HP:0000648	Optic atrophy	54806	AHI1	ORPHA:791
HP:0000648	Optic atrophy	6101	RP1	ORPHA:791
HP:0000648	Optic atrophy	3419	IDH3A	ORPHA:791
HP:0000648	Optic atrophy	4751	NEK2	ORPHA:791
HP:0000648	Optic atrophy	346007	EYS	ORPHA:791
HP:0000648	Optic atrophy	8100	IFT88	ORPHA:791
HP:0000648	Optic atrophy	23020	SNRNP200	ORPHA:791
HP:0000648	Optic atrophy	762	CA4	ORPHA:791
HP:0000648	Optic atrophy	138050	HGSNAT	ORPHA:791
HP:0000648	Optic atrophy	196	AHR	ORPHA:791
HP:0000648	Optic atrophy	3614	IMPDH1	ORPHA:791
HP:0000648	Optic atrophy	123016	TTC8	ORPHA:791
HP:0000648	Optic atrophy	6103	RPGR	ORPHA:791
HP:0000648	Optic atrophy	1406	CRX	ORPHA:791
HP:0000648	Optic atrophy	5148	PDE6G	ORPHA:791
HP:0000648	Optic atrophy	26160	IFT172	ORPHA:791
HP:0000648	Optic atrophy	26121	PRPF31	ORPHA:791
HP:0000648	Optic atrophy	583	BBS2	ORPHA:791
HP:0000648	Optic atrophy	4117	MAK	ORPHA:791
HP:0000648	Optic atrophy	375298	CERKL	ORPHA:791
HP:0000648	Optic atrophy	3420	IDH3B	ORPHA:791
HP:0000648	Optic atrophy	57670	KIAA1549	ORPHA:791
HP:0000648	Optic atrophy	7275	TUB	ORPHA:791
HP:0000648	Optic atrophy	24148	PRPF6	ORPHA:791
HP:0000648	Optic atrophy	23418	CRB1	ORPHA:791
HP:0000648	Optic atrophy	10461	MERTK	ORPHA:791
HP:0000648	Optic atrophy	57709	SLC7A14	ORPHA:791
HP:0000648	Optic atrophy	768206	PRCD	ORPHA:791
HP:0000648	Optic atrophy	7399	USH2A	ORPHA:791
HP:0000648	Optic atrophy	23370	ARHGEF18	ORPHA:791
HP:0000648	Optic atrophy	5949	RBP3	ORPHA:791
HP:0000648	Optic atrophy	6010	RHO	ORPHA:791
HP:0000648	Optic atrophy	6100	RP9	ORPHA:791
HP:0000648	Optic atrophy	10002	NR2E3	ORPHA:791
HP:0000648	Optic atrophy	9227	LRAT	ORPHA:791
HP:0000648	Optic atrophy	84140	FAM161A	ORPHA:791
HP:0000648	Optic atrophy	55812	SPATA7	ORPHA:791
HP:0000648	Optic atrophy	79797	ZNF408	ORPHA:791
HP:0000648	Optic atrophy	403	ARL3	ORPHA:791
HP:0000648	Optic atrophy	5145	PDE6A	ORPHA:791
HP:0000648	Optic atrophy	10210	TOPORS	ORPHA:791
HP:0000648	Optic atrophy	8842	PROM1	ORPHA:791
HP:0000648	Optic atrophy	9128	PRPF4	ORPHA:791
HP:0000648	Optic atrophy	145226	RDH12	ORPHA:791
HP:0000648	Optic atrophy	50939	IMPG2	ORPHA:791
HP:0000648	Optic atrophy	57545	CC2D2A	ORPHA:791
HP:0000648	Optic atrophy	57545	CC2D2A	ORPHA:564
HP:0000648	Optic atrophy	8481	OFD1	ORPHA:791
HP:0000648	Optic atrophy	49855	SCAPER	ORPHA:791
HP:0000648	Optic atrophy	9742	IFT140	ORPHA:791
HP:0000648	Optic atrophy	2979	GUCA1B	ORPHA:791
HP:0000648	Optic atrophy	1259	CNGA1	ORPHA:791
HP:0000648	Optic atrophy	1258	CNGB1	ORPHA:791
HP:0000648	Optic atrophy	60509	AGBL5	ORPHA:791
HP:0000648	Optic atrophy	5961	PRPH2	ORPHA:791
HP:0000648	Optic atrophy	388939	PCARE	ORPHA:791
HP:0000648	Optic atrophy	7439	BEST1	ORPHA:791
HP:0000648	Optic atrophy	9785	DHX38	ORPHA:791
HP:0000648	Optic atrophy	7287	TULP1	ORPHA:791
HP:0000648	Optic atrophy	5995	RGR	ORPHA:791
HP:0000648	Optic atrophy	9129	PRPF3	ORPHA:791
HP:0000648	Optic atrophy	55975	KLHL7	ORPHA:791
HP:0000648	Optic atrophy	3617	IMPG1	ORPHA:791
HP:0000648	Optic atrophy	94137	RP1L1	ORPHA:791
HP:0000648	Optic atrophy	5158	PDE6B	ORPHA:791
HP:0000648	Optic atrophy	6102	RP2	ORPHA:791
HP:0000648	Optic atrophy	55857	KIZ	ORPHA:791
HP:0000648	Optic atrophy	64218	SEMA4A	ORPHA:791
HP:0000648	Optic atrophy	4901	NRL	ORPHA:791
HP:0000648	Optic atrophy	157657	CFAP418	ORPHA:791
HP:0000648	Optic atrophy	10594	PRPF8	ORPHA:791
HP:0000648	Optic atrophy	84100	ARL6	ORPHA:791
HP:0000648	Optic atrophy	6295	SAG	ORPHA:791
HP:0000648	Optic atrophy	10785	WDR4	OMIM:618346
HP:0000648	Optic atrophy	50	ACO2	OMIM:616289
HP:0000648	Optic atrophy	50	ACO2	OMIM:614559
HP:0000648	Optic atrophy	160418	TMTC3	OMIM:617255
HP:0000648	Optic atrophy	51728	POLR3K	OMIM:619310
HP:0000648	Optic atrophy	54973	INTS11	OMIM:620428
HP:0000648	Optic atrophy	4719	NDUFS1	OMIM:618226
HP:0000648	Optic atrophy	4729	NDUFV2	OMIM:618229
HP:0000648	Optic atrophy	2767	GNA11	ORPHA:428
HP:0000648	Optic atrophy	846	CASR	ORPHA:428
HP:0000648	Optic atrophy	23345	SYNE1	OMIM:610743
HP:0000648	Optic atrophy	5428	POLG	OMIM:258450
HP:0000648	Optic atrophy	5428	POLG	ORPHA:254881
HP:0000648	Optic atrophy	5428	POLG	ORPHA:254886
HP:0000648	Optic atrophy	11267	SNF8	OMIM:620784
HP:0000648	Optic atrophy	10102	TSFM	OMIM:610505
HP:0000648	Optic atrophy	128869	PIGU	OMIM:618590
HP:0000648	Optic atrophy	10733	PLK4	OMIM:616171
HP:0000648	Optic atrophy	10733	PLK4	ORPHA:2518
HP:0000648	Optic atrophy	29887	SNX10	OMIM:615085
HP:0000648	Optic atrophy	91942	NDUFAF2	OMIM:618233
HP:0000648	Optic atrophy	7084	TK2	ORPHA:254886
HP:0000648	Optic atrophy	81790	RNF170	OMIM:619686
HP:0000648	Optic atrophy	23102	TBC1D2B	OMIM:619323
HP:0000648	Optic atrophy	1436	CSF1R	OMIM:618476
HP:0000648	Optic atrophy	26610	ELP4	OMIM:617141
HP:0000648	Optic atrophy	79868	ALG13	OMIM:300884
HP:0000648	Optic atrophy	126328	NDUFA11	OMIM:618236
HP:0000648	Optic atrophy	6651	SON	OMIM:617140
HP:0000648	Optic atrophy	6651	SON	ORPHA:500150
HP:0000648	Optic atrophy	10978	CLP1	ORPHA:411493
HP:0000648	Optic atrophy	9342	SNAP29	ORPHA:66631
HP:0000648	Optic atrophy	8882	ZPR1	OMIM:619321
HP:0000648	Optic atrophy	29078	NDUFAF4	OMIM:618237
HP:0000648	Optic atrophy	79133	NDUFAF5	OMIM:618238
HP:0000648	Optic atrophy	8890	EIF2B4	OMIM:620314
HP:0000648	Optic atrophy	7248	TSC1	ORPHA:538
HP:0000648	Optic atrophy	7249	TSC2	ORPHA:538
HP:0000648	Optic atrophy	11152	WDR45	ORPHA:329284
HP:0000648	Optic atrophy	25885	POLR1A	OMIM:620675
HP:0000648	Optic atrophy	8892	EIF2B2	OMIM:620312
HP:0000648	Optic atrophy	443	ASPA	ORPHA:314911
HP:0000648	Optic atrophy	443	ASPA	OMIM:271900
HP:0000648	Optic atrophy	154881	KCTD7	OMIM:611726
HP:0000648	Optic atrophy	154881	KCTD7	ORPHA:263516
HP:0000648	Optic atrophy	84892	POMGNT2	ORPHA:899
HP:0000648	Optic atrophy	1282	COL4A1	ORPHA:899
HP:0000648	Optic atrophy	10329	RXYLT1	ORPHA:899
HP:0000648	Optic atrophy	1605	DAG1	ORPHA:899
HP:0000648	Optic atrophy	11041	B4GAT1	ORPHA:899
HP:0000648	Optic atrophy	84197	POMK	ORPHA:899
HP:0000648	Optic atrophy	84197	POMK	ORPHA:370959
HP:0000648	Optic atrophy	79944	L2HGDH	OMIM:236792
HP:0000648	Optic atrophy	8869	ST3GAL5	OMIM:609056
HP:0000648	Optic atrophy	6904	TBCD	ORPHA:496641
HP:0000648	Optic atrophy	6904	TBCD	OMIM:617193
HP:0000648	Optic atrophy	4976	OPA1	ORPHA:98673
HP:0000648	Optic atrophy	4976	OPA1	OMIM:165500
HP:0000648	Optic atrophy	4976	OPA1	OMIM:210000
HP:0000648	Optic atrophy	4976	OPA1	OMIM:125250
HP:0000648	Optic atrophy	4976	OPA1	ORPHA:1215
HP:0000648	Optic atrophy	4976	OPA1	OMIM:616896
HP:0000648	Optic atrophy	5934	RBL2	OMIM:619690
HP:0000648	Optic atrophy	114548	NLRP3	ORPHA:575
HP:0000648	Optic atrophy	56915	EXOSC5	OMIM:619576
HP:0000648	Optic atrophy	22930	RAB3GAP1	OMIM:600118
HP:0000648	Optic atrophy	22930	RAB3GAP1	ORPHA:2510
HP:0000648	Optic atrophy	55572	FOXRED1	OMIM:618241
HP:0000648	Optic atrophy	123263	MTFMT	OMIM:618248
HP:0000648	Optic atrophy	123263	MTFMT	OMIM:614947
HP:0000648	Optic atrophy	51079	NDUFA13	OMIM:618249
HP:0000648	Optic atrophy	2077	ERF	ORPHA:207
HP:0000648	Optic atrophy	549	AUH	OMIM:250950
HP:0000648	Optic atrophy	1312	COMT	ORPHA:567
HP:0000648	Optic atrophy	221037	JMJD1C	ORPHA:567
HP:0000648	Optic atrophy	2812	GP1BB	ORPHA:567
HP:0000648	Optic atrophy	6239	RREB1	ORPHA:567
HP:0000648	Optic atrophy	6899	TBX1	ORPHA:567
HP:0000648	Optic atrophy	7290	HIRA	ORPHA:567
HP:0000648	Optic atrophy	9632	SEC24C	ORPHA:567
HP:0000648	Optic atrophy	7353	UFD1	ORPHA:567
HP:0000648	Optic atrophy	421	ARVCF	ORPHA:567
HP:0000648	Optic atrophy	2717	GLA	ORPHA:324
HP:0000648	Optic atrophy	84314	TMEM107	ORPHA:564
HP:0000648	Optic atrophy	26123	TCTN3	ORPHA:564
HP:0000648	Optic atrophy	79867	TCTN2	ORPHA:564
HP:0000648	Optic atrophy	80776	B9D2	ORPHA:564
HP:0000648	Optic atrophy	79600	TCTN1	ORPHA:564
HP:0000648	Optic atrophy	57096	RPGRIP1	ORPHA:564
HP:0000648	Optic atrophy	57096	RPGRIP1	OMIM:613826
HP:0000648	Optic atrophy	79848	CSPP1	ORPHA:564
HP:0000648	Optic atrophy	79848	CSPP1	OMIM:615636
HP:0000648	Optic atrophy	80184	CEP290	ORPHA:564
HP:0000648	Optic atrophy	51259	TMEM216	ORPHA:564
HP:0000648	Optic atrophy	79583	TMEM231	ORPHA:564
HP:0000648	Optic atrophy	91147	TMEM67	ORPHA:564
HP:0000648	Optic atrophy	79770	TXNDC15	ORPHA:564
HP:0000648	Optic atrophy	27077	B9D1	ORPHA:564
HP:0000648	Optic atrophy	23322	RPGRIP1L	ORPHA:564
HP:0000648	Optic atrophy	54903	MKS1	ORPHA:564
HP:0000648	Optic atrophy	65062	TMEM237	ORPHA:564
HP:0000648	Optic atrophy	65062	TMEM237	OMIM:614424
HP:0000648	Optic atrophy	112812	FDX2	OMIM:251900
HP:0000648	Optic atrophy	23258	DENND5A	OMIM:617281
HP:0000648	Optic atrophy	4784	NFIX	ORPHA:561
HP:0000648	Optic atrophy	27316	RBMX	OMIM:309555
HP:0000648	Optic atrophy	9758	FRMPD4	OMIM:300983
HP:0000648	Optic atrophy	54681	P4HTM	OMIM:618493
HP:0000648	Optic atrophy	4700	NDUFA6	OMIM:618253
HP:0000648	Optic atrophy	2071	ERCC3	OMIM:610651
HP:0000648	Optic atrophy	2071	ERCC3	ORPHA:910
HP:0000648	Optic atrophy	2071	ERCC3	ORPHA:220295
HP:0000648	Optic atrophy	5573	PRKAR1A	OMIM:101800
HP:0000648	Optic atrophy	64374	SIL1	ORPHA:559
HP:0000648	Optic atrophy	60386	SLC25A19	ORPHA:99742
HP:0000648	Optic atrophy	60386	SLC25A19	OMIM:607196
HP:0000648	Optic atrophy	79736	TEFM	OMIM:620451
HP:0000648	Optic atrophy	28982	FLVCR1	OMIM:609033
HP:0000648	Optic atrophy	3028	HSD17B10	ORPHA:391428
HP:0000648	Optic atrophy	3028	HSD17B10	OMIM:300438
HP:0000648	Optic atrophy	84065	TMEM222	OMIM:619470
HP:0000648	Optic atrophy	4041	LRP5	ORPHA:178377
HP:0000648	Optic atrophy	29926	GMPPA	ORPHA:869
HP:0000648	Optic atrophy	60684	TRAPPC11	ORPHA:869
HP:0000648	Optic atrophy	8086	AAAS	ORPHA:869
HP:0000648	Optic atrophy	8086	AAAS	OMIM:231550
HP:0000648	Optic atrophy	27349	MCAT	OMIM:620583
HP:0000648	Optic atrophy	526	ATP6V1B2	ORPHA:79500
HP:0000648	Optic atrophy	57465	TBC1D24	ORPHA:79500
HP:0000648	Optic atrophy	57465	TBC1D24	ORPHA:352596
HP:0000648	Optic atrophy	57465	TBC1D24	OMIM:220500
HP:0000648	Optic atrophy	57465	TBC1D24	OMIM:615338
HP:0000648	Optic atrophy	136647	MPLKIP	OMIM:234050
HP:0000648	Optic atrophy	493856	CISD2	OMIM:604928
HP:0000648	Optic atrophy	493856	CISD2	ORPHA:3463
HP:0000648	Optic atrophy	22978	NT5C2	ORPHA:320396
HP:0000648	Optic atrophy	22978	NT5C2	OMIM:613162
HP:0000648	Optic atrophy	100147744	RNU7-1	OMIM:619487
HP:0000648	Optic atrophy	5189	PEX1	OMIM:601539
HP:0000648	Optic atrophy	5189	PEX1	ORPHA:772
HP:0000648	Optic atrophy	5189	PEX1	ORPHA:44
HP:0000648	Optic atrophy	5189	PEX1	ORPHA:912
HP:0000648	Optic atrophy	51715	RAB23	OMIM:201000
HP:0000648	Optic atrophy	79152	FA2H	ORPHA:171629
HP:0000648	Optic atrophy	79152	FA2H	ORPHA:329308
HP:0000648	Optic atrophy	79152	FA2H	OMIM:612319
HP:0000648	Optic atrophy	9373	PLAA	ORPHA:521426
HP:0000648	Optic atrophy	9373	PLAA	OMIM:617527
HP:0000648	Optic atrophy	23516	SLC39A14	OMIM:144755
HP:0000648	Optic atrophy	55670	PEX26	ORPHA:772
HP:0000648	Optic atrophy	55670	PEX26	ORPHA:44
HP:0000648	Optic atrophy	55670	PEX26	ORPHA:912
HP:0000648	Optic atrophy	5824	PEX19	ORPHA:772
HP:0000648	Optic atrophy	5824	PEX19	ORPHA:44
HP:0000648	Optic atrophy	5824	PEX19	ORPHA:912
HP:0000648	Optic atrophy	5828	PEX2	ORPHA:772
HP:0000648	Optic atrophy	5828	PEX2	OMIM:614866
HP:0000648	Optic atrophy	5828	PEX2	ORPHA:44
HP:0000648	Optic atrophy	5828	PEX2	ORPHA:912
HP:0000648	Optic atrophy	8504	PEX3	ORPHA:772
HP:0000648	Optic atrophy	8504	PEX3	ORPHA:44
HP:0000648	Optic atrophy	8504	PEX3	ORPHA:912
HP:0000648	Optic atrophy	9409	PEX16	ORPHA:772
HP:0000648	Optic atrophy	9409	PEX16	OMIM:614877
HP:0000648	Optic atrophy	9409	PEX16	ORPHA:44
HP:0000648	Optic atrophy	9409	PEX16	ORPHA:912
HP:0000648	Optic atrophy	5190	PEX6	ORPHA:772
HP:0000648	Optic atrophy	5190	PEX6	ORPHA:95433
HP:0000648	Optic atrophy	5190	PEX6	OMIM:614863
HP:0000648	Optic atrophy	5190	PEX6	ORPHA:44
HP:0000648	Optic atrophy	5190	PEX6	ORPHA:912
HP:0000648	Optic atrophy	8799	PEX11B	ORPHA:772
HP:0000648	Optic atrophy	8799	PEX11B	ORPHA:44
HP:0000648	Optic atrophy	8799	PEX11B	ORPHA:912
HP:0000648	Optic atrophy	5830	PEX5	ORPHA:772
HP:0000648	Optic atrophy	5830	PEX5	ORPHA:44
HP:0000648	Optic atrophy	5830	PEX5	ORPHA:912
HP:0000648	Optic atrophy	5193	PEX12	ORPHA:772
HP:0000648	Optic atrophy	5193	PEX12	ORPHA:44
HP:0000648	Optic atrophy	5193	PEX12	ORPHA:912
HP:0000648	Optic atrophy	5194	PEX13	ORPHA:772
HP:0000648	Optic atrophy	5194	PEX13	ORPHA:44
HP:0000648	Optic atrophy	5194	PEX13	ORPHA:912
HP:0000648	Optic atrophy	5195	PEX14	ORPHA:772
HP:0000648	Optic atrophy	5195	PEX14	ORPHA:44
HP:0000648	Optic atrophy	5195	PEX14	ORPHA:912
HP:0000648	Optic atrophy	5192	PEX10	ORPHA:772
HP:0000648	Optic atrophy	5192	PEX10	ORPHA:44
HP:0000648	Optic atrophy	5192	PEX10	ORPHA:912
HP:0000648	Optic atrophy	23636	NUP62	ORPHA:225154
HP:0000648	Optic atrophy	23636	NUP62	OMIM:271930
HP:0000648	Optic atrophy	53371	NUP54	ORPHA:225154
HP:0000648	Optic atrophy	103	ADAR	ORPHA:225154
HP:0000648	Optic atrophy	6389	SDHA	OMIM:619259
HP:0000648	Optic atrophy	6389	SDHA	OMIM:252011
HP:0000648	Optic atrophy	84231	TRAF7	OMIM:618164
HP:0000648	Optic atrophy	4668	NAGA	OMIM:609241
HP:0000648	Optic atrophy	4668	NAGA	ORPHA:79279
HP:0000648	Optic atrophy	131118	DNAJC19	ORPHA:66634
HP:0000648	Optic atrophy	131118	DNAJC19	OMIM:610198
HP:0000648	Optic atrophy	51594	NBAS	OMIM:614800
HP:0000648	Optic atrophy	11043	MID2	OMIM:300928
HP:0000648	Optic atrophy	2581	GALC	ORPHA:206436
HP:0000648	Optic atrophy	2581	GALC	OMIM:245200
HP:0000648	Optic atrophy	84233	TMEM126A	OMIM:612989
HP:0000648	Optic atrophy	9897	WASHC5	ORPHA:7
HP:0000648	Optic atrophy	28952	CCDC22	ORPHA:7
HP:0000648	Optic atrophy	57020	VPS35L	ORPHA:7
HP:0000648	Optic atrophy	56896	DPYSL5	ORPHA:7
HP:0000648	Optic atrophy	1678	TIMM8A	ORPHA:52368
HP:0000648	Optic atrophy	79644	SRD5A3	ORPHA:324737
HP:0000648	Optic atrophy	79644	SRD5A3	OMIM:612379
HP:0000648	Optic atrophy	129285	PPP1R21	OMIM:619383
HP:0000648	Optic atrophy	114034	TOE1	ORPHA:284339
HP:0000648	Optic atrophy	114034	TOE1	OMIM:614969
HP:0000648	Optic atrophy	4038	LRP4	ORPHA:3152
HP:0000648	Optic atrophy	1496	CTNNA2	OMIM:618174
HP:0000648	Optic atrophy	27445	PCLO	OMIM:608027
HP:0000648	Optic atrophy	8517	IKBKG	OMIM:308300
HP:0000648	Optic atrophy	1462	VCAN	OMIM:143200
HP:0000648	Optic atrophy	8398	PLA2G6	OMIM:610217
HP:0000648	Optic atrophy	8398	PLA2G6	ORPHA:35069
HP:0000648	Optic atrophy	8398	PLA2G6	OMIM:256600
HP:0000648	Optic atrophy	10134	BCAP31	OMIM:300475
HP:0000648	Optic atrophy	10134	BCAP31	ORPHA:369939
HP:0000648	Optic atrophy	23769	FLRT1	ORPHA:320406
HP:0000648	Optic atrophy	64837	KLC2	ORPHA:320406
HP:0000648	Optic atrophy	64837	KLC2	OMIM:609541
HP:0000648	Optic atrophy	4570	MT-TN	OMIM:220110
HP:0000648	Optic atrophy	6834	SURF1	OMIM:220110
HP:0000648	Optic atrophy	10312	TCIRG1	OMIM:259700
HP:0000648	Optic atrophy	10312	TCIRG1	ORPHA:1782
HP:0000648	Optic atrophy	25821	MTO1	OMIM:614702
HP:0000648	Optic atrophy	145173	B3GLCT	ORPHA:709
HP:0000648	Optic atrophy	2896	GRN	OMIM:614706
HP:0000648	Optic atrophy	80207	OPA3	OMIM:165300
HP:0000648	Optic atrophy	80207	OPA3	OMIM:258501
HP:0000648	Optic atrophy	80207	OPA3	ORPHA:67036
HP:0000648	Optic atrophy	4758	NEU1	ORPHA:93399
HP:0000648	Optic atrophy	4758	NEU1	ORPHA:93400
HP:0000648	Optic atrophy	79581	SLC52A2	OMIM:614707
HP:0000648	Optic atrophy	51218	GLRX5	ORPHA:401866
HP:0000648	Optic atrophy	51218	GLRX5	OMIM:616859
HP:0000648	Optic atrophy	374654	KIF7	OMIM:200990
HP:0000648	Optic atrophy	170302	ARX	OMIM:300004
HP:0000648	Optic atrophy	100996717	NOTCH2NLC	ORPHA:2289
HP:0000648	Optic atrophy	9640	ZNF592	ORPHA:83472
HP:0000648	Optic atrophy	1717	DHCR7	ORPHA:818
HP:0000648	Optic atrophy	5290	PIK3CA	ORPHA:99802
HP:0000648	Optic atrophy	5290	PIK3CA	ORPHA:60040
HP:0000648	Optic atrophy	2475	MTOR	ORPHA:99802
HP:0000648	Optic atrophy	10000	AKT3	ORPHA:99802
HP:0000648	Optic atrophy	271	AMPD2	OMIM:615809
HP:0000648	Optic atrophy	51204	TACO1	OMIM:619052
HP:0000648	Optic atrophy	4509	MT-ATP8	ORPHA:254913
HP:0000648	Optic atrophy	514	ATP5F1E	ORPHA:254913
HP:0000648	Optic atrophy	513	ATP5F1D	ORPHA:254913
HP:0000648	Optic atrophy	498	ATP5F1A	ORPHA:254913
HP:0000648	Optic atrophy	84833	ATP5MK	ORPHA:254913
HP:0000648	Optic atrophy	91647	ATPAF2	ORPHA:254913
HP:0000648	Optic atrophy	55037	PTCD3	OMIM:619057
HP:0000648	Optic atrophy	1757	SARDH	ORPHA:3129
HP:0000648	Optic atrophy	1716	DGUOK	ORPHA:329314
HP:0000648	Optic atrophy	55157	DARS2	ORPHA:137898
HP:0000648	Optic atrophy	686	BTD	OMIM:253260
HP:0000648	Optic atrophy	686	BTD	ORPHA:79241
HP:0000648	Optic atrophy	546	ATRX	ORPHA:847
HP:0000648	Optic atrophy	546	ATRX	OMIM:309580
HP:0000648	Optic atrophy	10367	MICU1	ORPHA:401768
HP:0000648	Optic atrophy	10367	MICU1	OMIM:615673
HP:0000648	Optic atrophy	9839	ZEB2	ORPHA:261552
HP:0000648	Optic atrophy	54476	RNF216	ORPHA:1173
HP:0000648	Optic atrophy	10908	PNPLA6	ORPHA:1173
HP:0000648	Optic atrophy	26090	ABHD12	OMIM:612674
HP:0000648	Optic atrophy	10382	TUBB4A	OMIM:612438
HP:0000648	Optic atrophy	84947	SERAC1	OMIM:614739
HP:0000648	Optic atrophy	1798	DPAGT1	ORPHA:86309
HP:0000648	Optic atrophy	7025	NR2F1	ORPHA:401777
HP:0000648	Optic atrophy	7025	NR2F1	OMIM:615722
HP:0000648	Optic atrophy	23347	SMCHD1	ORPHA:2250
HP:0000648	Optic atrophy	1593	CYP27A1	ORPHA:909
HP:0000648	Optic atrophy	11340	EXOSC8	ORPHA:2254
HP:0000648	Optic atrophy	5393	EXOSC9	ORPHA:2254
HP:0000648	Optic atrophy	23287	AGTPBP1	ORPHA:2254
HP:0000648	Optic atrophy	51010	EXOSC3	ORPHA:2254
HP:0000648	Optic atrophy	7443	VRK1	ORPHA:2254
HP:0000648	Optic atrophy	5080	PAX6	ORPHA:2253
HP:0000648	Optic atrophy	3748	KCNC3	ORPHA:98768
HP:0000648	Optic atrophy	3748	KCNC3	OMIM:605259
HP:0000648	Optic atrophy	80025	PANK2	OMIM:234200
HP:0000648	Optic atrophy	80025	PANK2	ORPHA:216873
HP:0000648	Optic atrophy	11128	POLR3A	ORPHA:447896
HP:0000648	Optic atrophy	11128	POLR3A	ORPHA:3455
HP:0000648	Optic atrophy	11128	POLR3A	OMIM:607694
HP:0000648	Optic atrophy	8050	PDHX	OMIM:245349
HP:0000648	Optic atrophy	4256	MGP	ORPHA:85202
HP:0000648	Optic atrophy	63895	PIEZO2	ORPHA:1154
HP:0000648	Optic atrophy	25828	TXN2	OMIM:616811
HP:0000648	Optic atrophy	471	ATIC	OMIM:608688
HP:0000648	Optic atrophy	6742	SSBP1	OMIM:165510
HP:0000648	Optic atrophy	23065	EMC1	ORPHA:480898
HP:0000648	Optic atrophy	23065	EMC1	OMIM:616875
HP:0000648	Optic atrophy	6310	ATXN1	ORPHA:98755
HP:0000648	Optic atrophy	6310	ATXN1	OMIM:164400
HP:0000648	Optic atrophy	8573	CASK	ORPHA:163937
HP:0000648	Optic atrophy	50484	RRM2B	OMIM:268315
HP:0000648	Optic atrophy	1186	CLCN7	OMIM:611490
HP:0000648	Optic atrophy	1186	CLCN7	ORPHA:53
HP:0000648	Optic atrophy	55275	VPS53	OMIM:615851
HP:0000648	Optic atrophy	50628	GEMIN4	OMIM:617913
HP:0000648	Optic atrophy	283989	TSEN54	OMIM:277470
HP:0000648	Optic atrophy	81846	SBF2	ORPHA:99956
HP:0000648	Optic atrophy	64802	NMNAT1	OMIM:608553
HP:0000648	Optic atrophy	22856	CHSY1	OMIM:605282
HP:0000648	Optic atrophy	22856	CHSY1	ORPHA:363417
HP:0000648	Optic atrophy	2776	GNAQ	ORPHA:3205
HP:0000648	Optic atrophy	92154	MTSS2	OMIM:620086
HP:0000648	Optic atrophy	28962	OSTM1	OMIM:259720
HP:0000648	Optic atrophy	23590	PDSS1	OMIM:614651
HP:0000648	Optic atrophy	79628	SH3TC2	ORPHA:99949
HP:0000648	Optic atrophy	57724	EPG5	ORPHA:1493
HP:0000648	Optic atrophy	8216	LZTR1	OMIM:605275
HP:0000648	Optic atrophy	9230	RAB11B	OMIM:617807
HP:0000648	Optic atrophy	90417	KNSTRN	OMIM:613328
HP:0000648	Optic atrophy	5293	PIK3CD	OMIM:613328
HP:0000648	Optic atrophy	2068	ERCC2	ORPHA:910
HP:0000648	Optic atrophy	2068	ERCC2	ORPHA:1466
HP:0000648	Optic atrophy	2068	ERCC2	ORPHA:220295
HP:0000648	Optic atrophy	7507	XPA	ORPHA:910
HP:0000648	Optic atrophy	7508	XPC	ORPHA:910
HP:0000648	Optic atrophy	1643	DDB2	ORPHA:910
HP:0000648	Optic atrophy	2073	ERCC5	ORPHA:910
HP:0000648	Optic atrophy	2073	ERCC5	ORPHA:1466
HP:0000648	Optic atrophy	2073	ERCC5	ORPHA:220295
HP:0000648	Optic atrophy	8600	TNFSF11	OMIM:259710
HP:0000648	Optic atrophy	10075	HUWE1	OMIM:309590
HP:0000648	Optic atrophy	53616	ADAM22	OMIM:617933
HP:0000648	Optic atrophy	7473	WNT3	ORPHA:3301
HP:0000648	Optic atrophy	340419	RSPO2	ORPHA:3301
HP:0000648	Optic atrophy	9496	TBX4	ORPHA:3301
HP:0000648	Optic atrophy	1806	DPYD	OMIM:274270
HP:0000648	Optic atrophy	998	CDC42	OMIM:616737
HP:0000648	Optic atrophy	998	CDC42	ORPHA:487796
HP:0000648	Optic atrophy	10413	YAP1	ORPHA:1473
HP:0000648	Optic atrophy	10560	SLC19A2	ORPHA:49827
HP:0000648	Optic atrophy	10560	SLC19A2	OMIM:249270
HP:0000648	Optic atrophy	6314	ATXN7	OMIM:164500
HP:0000648	Optic atrophy	10342	TFG	ORPHA:431329
HP:0000648	Optic atrophy	10342	TFG	OMIM:615658
HP:0000648	Optic atrophy	9512	PMPCB	OMIM:617954
HP:0000648	Optic atrophy	2067	ERCC1	ORPHA:1466
HP:0000648	Optic atrophy	10352	WARS2	OMIM:617710
HP:0000648	Optic atrophy	2058	EPRS1	OMIM:617951
HP:0000648	Optic atrophy	54974	THG1L	OMIM:618800
HP:0000648	Optic atrophy	5604	MAP2K1	ORPHA:1340
HP:0000648	Optic atrophy	5605	MAP2K2	ORPHA:1340
HP:0000648	Optic atrophy	3845	KRAS	ORPHA:1340
HP:0000648	Optic atrophy	259232	NALCN	OMIM:615419
HP:0000648	Optic atrophy	128989	TANGO2	ORPHA:480864
HP:0000648	Optic atrophy	128989	TANGO2	OMIM:616878
HP:0000648	Optic atrophy	64093	SMOC1	ORPHA:1106
HP:0000648	Optic atrophy	9420	CYP7B1	OMIM:270800
HP:0000648	Optic atrophy	4007	PRICKLE3	OMIM:308905
HP:0000648	Optic atrophy	57511	COG6	OMIM:614576
HP:0000648	Optic atrophy	128637	TBC1D20	OMIM:615663
HP:0000648	Optic atrophy	128637	TBC1D20	ORPHA:2510
HP:0000648	Optic atrophy	57572	DOCK6	OMIM:614219
HP:0000648	Optic atrophy	760	CA2	ORPHA:2785
HP:0000648	Optic atrophy	64840	PORCN	OMIM:305600
HP:0000648	Optic atrophy	6197	RPS6KA3	ORPHA:192
HP:0000648	Optic atrophy	51501	HIKESHI	OMIM:616881
HP:0000648	Optic atrophy	25782	RAB3GAP2	OMIM:614225
HP:0000648	Optic atrophy	25782	RAB3GAP2	ORPHA:2510
HP:0000648	Optic atrophy	1859	DYRK1A	OMIM:614104
HP:0000648	Optic atrophy	22931	RAB18	OMIM:614222
HP:0000648	Optic atrophy	22931	RAB18	ORPHA:2510
HP:0000648	Optic atrophy	189	AGXT	OMIM:259900
HP:0000648	Optic atrophy	22934	RPIA	OMIM:608611
HP:0000648	Optic atrophy	7040	TGFB1	ORPHA:1328
HP:0000648	Optic atrophy	6452	SH3BP2	ORPHA:184
HP:0000648	Optic atrophy	51124	IER3IP1	OMIM:614231
HP:0000648	Optic atrophy	51816	ADA2	OMIM:615688
HP:0000648	Optic atrophy	3832	KIF11	ORPHA:2526
HP:0000648	Optic atrophy	3832	KIF11	OMIM:152950
HP:0000648	Optic atrophy	55704	CCDC88A	OMIM:617507
HP:0000648	Optic atrophy	54676	GTPBP2	OMIM:617988
HP:0000648	Optic atrophy	5456	POU3F4	ORPHA:1435
HP:0000648	Optic atrophy	5538	PPT1	OMIM:256730
HP:0000648	Optic atrophy	387	RHOA	OMIM:618727
HP:0000648	Optic atrophy	55315	SLC29A3	ORPHA:1782
HP:0000648	Optic atrophy	8777	MPDZ	OMIM:615219
HP:0000648	Optic atrophy	25974	MMACHC	ORPHA:79282
HP:0000648	Optic atrophy	85378	TUBGCP6	ORPHA:2518
HP:0000648	Optic atrophy	27229	TUBGCP4	ORPHA:2518
HP:0000648	Optic atrophy	57410	SCYL1	ORPHA:466794
HP:0000648	Optic atrophy	7543	ZFX	OMIM:301118
HP:0000648	Optic atrophy	35	ACADS	ORPHA:26792
HP:0000648	Optic atrophy	80169	CTC1	OMIM:612199
HP:0000648	Optic atrophy	10844	TUBGCP2	OMIM:618737
HP:0000648	Optic atrophy	547	KIF1A	OMIM:614255
HP:0000648	Optic atrophy	221927	BRAT1	OMIM:614498
HP:0000648	Optic atrophy	55753	OGDHL	OMIM:619701
HP:0000648	Optic atrophy	10939	AFG3L2	OMIM:618977
HP:0000648	Optic atrophy	5297	PI4KA	OMIM:619708
HP:0000648	Optic atrophy	9842	PLEKHM1	ORPHA:210110
HP:0000529	Progressive visual loss	3735	KARS1	OMIM:619196
HP:0000529	Progressive visual loss	6247	RS1	ORPHA:792
HP:0000529	Progressive visual loss	6247	RS1	OMIM:312700
HP:0000529	Progressive visual loss	1121	CHM	OMIM:303100
HP:0000529	Progressive visual loss	1121	CHM	ORPHA:180
HP:0000529	Progressive visual loss	11277	TREX1	OMIM:192315
HP:0000529	Progressive visual loss	157657	CFAP418	OMIM:614500
HP:0000529	Progressive visual loss	157657	CFAP418	ORPHA:1872
HP:0000529	Progressive visual loss	673	BRAF	OMIM:115150
HP:0000529	Progressive visual loss	3426	CFI	OMIM:615439
HP:0000529	Progressive visual loss	11340	EXOSC8	ORPHA:2254
HP:0000529	Progressive visual loss	5393	EXOSC9	ORPHA:2254
HP:0000529	Progressive visual loss	23287	AGTPBP1	ORPHA:2254
HP:0000529	Progressive visual loss	51010	EXOSC3	ORPHA:2254
HP:0000529	Progressive visual loss	7443	VRK1	ORPHA:2254
HP:0000529	Progressive visual loss	91137	SLC25A46	ORPHA:2254
HP:0000529	Progressive visual loss	91137	SLC25A46	OMIM:616505
HP:0000529	Progressive visual loss	1308	COL17A1	ORPHA:293381
HP:0000529	Progressive visual loss	4758	NEU1	OMIM:256550
HP:0000529	Progressive visual loss	4758	NEU1	ORPHA:812
HP:0000529	Progressive visual loss	84277	DNAJC30	ORPHA:104
HP:0000529	Progressive visual loss	4535	MT-ND1	ORPHA:104
HP:0000529	Progressive visual loss	4536	MT-ND2	ORPHA:104
HP:0000529	Progressive visual loss	4538	MT-ND4	ORPHA:104
HP:0000529	Progressive visual loss	4720	NDUFS2	ORPHA:104
HP:0000529	Progressive visual loss	4720	NDUFS2	OMIM:620569
HP:0000529	Progressive visual loss	4512	MT-CO1	ORPHA:104
HP:0000529	Progressive visual loss	4514	MT-CO3	ORPHA:104
HP:0000529	Progressive visual loss	4519	MT-CYB	ORPHA:104
HP:0000529	Progressive visual loss	4508	MT-ATP6	ORPHA:104
HP:0000529	Progressive visual loss	4540	MT-ND5	ORPHA:104
HP:0000529	Progressive visual loss	4541	MT-ND6	ORPHA:104
HP:0000529	Progressive visual loss	4539	MT-ND4L	ORPHA:104
HP:0000529	Progressive visual loss	54982	CLN6	OMIM:601780
HP:0000529	Progressive visual loss	10908	PNPLA6	OMIM:215470
HP:0000529	Progressive visual loss	4036	LRP2	OMIM:222448
HP:0000529	Progressive visual loss	4036	LRP2	ORPHA:2143
HP:0000529	Progressive visual loss	6452	SH3BP2	ORPHA:184
HP:0000529	Progressive visual loss	5961	PRPH2	ORPHA:52427
HP:0000529	Progressive visual loss	5961	PRPH2	ORPHA:1872
HP:0000529	Progressive visual loss	6017	RLBP1	ORPHA:52427
HP:0000529	Progressive visual loss	6017	RLBP1	ORPHA:85128
HP:0000529	Progressive visual loss	6010	RHO	ORPHA:52427
HP:0000529	Progressive visual loss	5959	RDH5	ORPHA:52427
HP:0000529	Progressive visual loss	9742	IFT140	OMIM:617781
HP:0000529	Progressive visual loss	478	ATP1A3	OMIM:601338
HP:0000529	Progressive visual loss	79587	CARS2	ORPHA:477774
HP:0000529	Progressive visual loss	92211	CDHR1	OMIM:613660
HP:0000529	Progressive visual loss	92211	CDHR1	ORPHA:1872
HP:0000529	Progressive visual loss	3075	CFH	OMIM:126700
HP:0000529	Progressive visual loss	4221	MEN1	ORPHA:2965
HP:0000529	Progressive visual loss	64072	CDH23	ORPHA:2965
HP:0000529	Progressive visual loss	64072	CDH23	ORPHA:91347
HP:0000529	Progressive visual loss	9049	AIP	ORPHA:2965
HP:0000529	Progressive visual loss	8842	PROM1	ORPHA:1872
HP:0000529	Progressive visual loss	22926	ATF6	ORPHA:1872
HP:0000529	Progressive visual loss	64802	NMNAT1	ORPHA:1872
HP:0000529	Progressive visual loss	84839	RAX2	ORPHA:1872
HP:0000529	Progressive visual loss	57096	RPGRIP1	ORPHA:1872
HP:0000529	Progressive visual loss	57096	RPGRIP1	OMIM:608194
HP:0000529	Progressive visual loss	24	ABCA4	ORPHA:1872
HP:0000529	Progressive visual loss	1261	CNGA3	ORPHA:1872
HP:0000529	Progressive visual loss	5956	OPN1LW	ORPHA:1872
HP:0000529	Progressive visual loss	755	CFAP410	ORPHA:1872
HP:0000529	Progressive visual loss	778	CACNA1F	ORPHA:1872
HP:0000529	Progressive visual loss	8754	ADAM9	ORPHA:1872
HP:0000529	Progressive visual loss	3000	GUCY2D	ORPHA:1872
HP:0000529	Progressive visual loss	22999	RIMS1	ORPHA:1872
HP:0000529	Progressive visual loss	128338	DRAM2	ORPHA:1872
HP:0000529	Progressive visual loss	6103	RPGR	ORPHA:1872
HP:0000529	Progressive visual loss	2652	OPN1MW	ORPHA:1872
HP:0000529	Progressive visual loss	1406	CRX	ORPHA:1872
HP:0000529	Progressive visual loss	9094	UNC119	ORPHA:1872
HP:0000529	Progressive visual loss	93589	CACNA2D4	ORPHA:1872
HP:0000529	Progressive visual loss	2978	GUCA1A	ORPHA:1872
HP:0000529	Progressive visual loss	2978	GUCA1A	OMIM:602093
HP:0000529	Progressive visual loss	282809	POC1B	ORPHA:1872
HP:0000529	Progressive visual loss	64218	SEMA4A	ORPHA:1872
HP:0000529	Progressive visual loss	64218	SEMA4A	OMIM:610283
HP:0000529	Progressive visual loss	83394	PITPNM3	ORPHA:1872
HP:0000529	Progressive visual loss	23093	TTLL5	ORPHA:1872
HP:0000529	Progressive visual loss	83723	TLCD3B	ORPHA:1872
HP:0000529	Progressive visual loss	23746	AIPL1	ORPHA:1872
HP:0000529	Progressive visual loss	9364	RAB28	ORPHA:1872
HP:0000529	Progressive visual loss	10461	MERTK	OMIM:613862
HP:0000529	Progressive visual loss	3145	HMBS	OMIM:620711
HP:0000529	Progressive visual loss	1200	TPP1	OMIM:204500
HP:0000529	Progressive visual loss	6314	ATXN7	OMIM:164500
HP:0000529	Progressive visual loss	348	APOE	OMIM:603075
HP:0000529	Progressive visual loss	10878	CFHR3	OMIM:603075
HP:0000529	Progressive visual loss	83872	HMCN1	OMIM:603075
HP:0000529	Progressive visual loss	3078	CFHR1	OMIM:603075
HP:0000529	Progressive visual loss	50964	SOST	OMIM:122860
HP:0000529	Progressive visual loss	4942	OAT	ORPHA:414
HP:0000529	Progressive visual loss	403	ARL3	OMIM:618161
HP:0000529	Progressive visual loss	5264	PHYH	ORPHA:773
HP:0000529	Progressive visual loss	5191	PEX7	ORPHA:773
HP:0000529	Progressive visual loss	7345	UCHL1	OMIM:615491
HP:0000529	Progressive visual loss	6651	SON	ORPHA:500150
HP:0000529	Progressive visual loss	5631	PRPS1	OMIM:311070
HP:0000529	Progressive visual loss	5538	PPT1	OMIM:256730
HP:0000529	Progressive visual loss	79797	ZNF408	OMIM:616468
HP:0000529	Progressive visual loss	1203	CLN5	OMIM:256731
HP:0000529	Progressive visual loss	2058	EPRS1	OMIM:617951
HP:0000529	Progressive visual loss	8792	TNFRSF11A	OMIM:612301
HP:0000529	Progressive visual loss	1634	DCN	OMIM:610048
HP:0000529	Progressive visual loss	2055	CLN8	ORPHA:1947
HP:0000529	Progressive visual loss	2055	CLN8	OMIM:600143
HP:0000529	Progressive visual loss	285440	CYP4V2	OMIM:210370
HP:0000529	Progressive visual loss	4547	MTTP	ORPHA:14
HP:0000529	Progressive visual loss	83636	C19orf12	OMIM:614298
HP:0000529	Progressive visual loss	51109	RDH11	ORPHA:436245
HP:0000529	Progressive visual loss	1201	CLN3	OMIM:204200
HP:0000529	Progressive visual loss	80781	COL18A1	ORPHA:1571
HP:0000529	Progressive visual loss	5062	PAK2	ORPHA:1571
HP:0000529	Progressive visual loss	57670	KIAA1549	OMIM:618613
HP:0000529	Progressive visual loss	5130	PCYT1A	OMIM:608940
HP:0000529	Progressive visual loss	26146	TRAF3IP1	ORPHA:3156
HP:0000529	Progressive visual loss	9657	IQCB1	ORPHA:3156
HP:0000529	Progressive visual loss	10806	SDCCAG8	ORPHA:3156
HP:0000529	Progressive visual loss	27130	INVS	ORPHA:3156
HP:0000529	Progressive visual loss	80184	CEP290	ORPHA:3156
HP:0000529	Progressive visual loss	4867	NPHP1	ORPHA:3156
HP:0000529	Progressive visual loss	261734	NPHP4	ORPHA:3156
HP:0000529	Progressive visual loss	57728	WDR19	ORPHA:3156
HP:0000529	Progressive visual loss	27031	NPHP3	ORPHA:3156
HP:0000529	Progressive visual loss	22897	CEP164	ORPHA:3156
HP:0000529	Progressive visual loss	4976	OPA1	OMIM:210000
HP:0000529	Progressive visual loss	4976	OPA1	ORPHA:1215
HP:0000529	Progressive visual loss	4763	NF1	ORPHA:97685
HP:0000529	Progressive visual loss	7045	TGFBI	OMIM:122200
HP:0000529	Progressive visual loss	10059	DNM1L	OMIM:610708
HP:0000529	Progressive visual loss	79152	FA2H	ORPHA:329308
HP:0000529	Progressive visual loss	94137	RP1L1	OMIM:613587
HP:0000529	Progressive visual loss	8314	BAP1	ORPHA:2495
HP:0000529	Progressive visual loss	4771	NF2	ORPHA:2495
HP:0000529	Progressive visual loss	6598	SMARCB1	ORPHA:2495
HP:0000529	Progressive visual loss	5155	PDGFB	ORPHA:2495
HP:0000529	Progressive visual loss	84231	TRAF7	ORPHA:2495
HP:0000529	Progressive visual loss	6608	SMO	ORPHA:2495
HP:0000529	Progressive visual loss	207	AKT1	ORPHA:2495
HP:0000529	Progressive visual loss	5290	PIK3CA	ORPHA:2495
HP:0000529	Progressive visual loss	7015	TERT	ORPHA:2495
HP:0000529	Progressive visual loss	51684	SUFU	ORPHA:2495
HP:0000529	Progressive visual loss	6605	SMARCE1	ORPHA:2495
HP:0000529	Progressive visual loss	9927	MFN2	OMIM:601152
HP:0000529	Progressive visual loss	1499	CTNNB1	ORPHA:54595
HP:0007755	Juvenile epithelial corneal dystrophy	7045	TGFBI	OMIM:602082
HP:0000594	Shallow anterior chamber	444	ASPH	OMIM:601552
HP:0000594	Shallow anterior chamber	220202	ATOH7	OMIM:221900
HP:0000594	Shallow anterior chamber	220202	ATOH7	ORPHA:91495
HP:0000594	Shallow anterior chamber	2200	FBN1	OMIM:608328
HP:0000594	Shallow anterior chamber	2200	FBN1	OMIM:129600
HP:0000594	Shallow anterior chamber	84992	PIGY	ORPHA:247262
HP:0000594	Shallow anterior chamber	84720	PIGO	ORPHA:247262
HP:0000594	Shallow anterior chamber	93210	PGAP3	ORPHA:247262
HP:0000594	Shallow anterior chamber	284098	PIGW	ORPHA:247262
HP:0000594	Shallow anterior chamber	27315	PGAP2	ORPHA:247262
HP:0000594	Shallow anterior chamber	55650	PIGV	ORPHA:247262
HP:0000594	Shallow anterior chamber	9487	PIGL	ORPHA:247262
HP:0000594	Shallow anterior chamber	170691	ADAMTS17	OMIM:613195
HP:0000594	Shallow anterior chamber	23554	TSPAN12	OMIM:613310
HP:0000594	Shallow anterior chamber	22931	RAB18	OMIM:614222
HP:0000594	Shallow anterior chamber	84168	ANTXR1	OMIM:230740
HP:0000594	Shallow anterior chamber	4693	NDP	OMIM:310600
HP:0000594	Shallow anterior chamber	4693	NDP	ORPHA:91495
HP:0000594	Shallow anterior chamber	4693	NDP	OMIM:305390
HP:0000594	Shallow anterior chamber	8322	FZD4	ORPHA:91495
HP:0000594	Shallow anterior chamber	4053	LTBP2	OMIM:614819
HP:0000594	Shallow anterior chamber	81794	ADAMTS10	OMIM:277600
HP:0000556	Retinal dystrophy	65217	PCDH15	OMIM:601067
HP:0000556	Retinal dystrophy	65217	PCDH15	OMIM:602083
HP:0000556	Retinal dystrophy	64072	CDH23	OMIM:601067
HP:0000556	Retinal dystrophy	64072	CDH23	OMIM:601386
HP:0000556	Retinal dystrophy	91452	ACBD5	OMIM:618863
HP:0000556	Retinal dystrophy	5949	RBP3	OMIM:615233
HP:0000556	Retinal dystrophy	5949	RBP3	OMIM:268000
HP:0000556	Retinal dystrophy	4598	MVK	OMIM:260920
HP:0000556	Retinal dystrophy	2677	GGCX	ORPHA:436274
HP:0000556	Retinal dystrophy	6010	RHO	OMIM:613731
HP:0000556	Retinal dystrophy	130557	ZNF513	OMIM:613617
HP:0000556	Retinal dystrophy	6094	ROM1	OMIM:608133
HP:0000556	Retinal dystrophy	6094	ROM1	OMIM:268000
HP:0000556	Retinal dystrophy	5961	PRPH2	OMIM:608133
HP:0000556	Retinal dystrophy	91147	TMEM67	OMIM:602152
HP:0000556	Retinal dystrophy	91147	TMEM67	ORPHA:140976
HP:0000556	Retinal dystrophy	91147	TMEM67	OMIM:615991
HP:0000556	Retinal dystrophy	23126	POGZ	ORPHA:468678
HP:0000556	Retinal dystrophy	23126	POGZ	OMIM:616364
HP:0000556	Retinal dystrophy	4535	MT-ND1	ORPHA:255210
HP:0000556	Retinal dystrophy	4536	MT-ND2	ORPHA:255210
HP:0000556	Retinal dystrophy	4537	MT-ND3	ORPHA:255210
HP:0000556	Retinal dystrophy	4538	MT-ND4	ORPHA:255210
HP:0000556	Retinal dystrophy	4567	MT-TL1	ORPHA:255210
HP:0000556	Retinal dystrophy	4578	MT-TW	ORPHA:255210
HP:0000556	Retinal dystrophy	4577	MT-TV	ORPHA:255210
HP:0000556	Retinal dystrophy	4508	MT-ATP6	ORPHA:255210
HP:0000556	Retinal dystrophy	4508	MT-ATP6	ORPHA:254913
HP:0000556	Retinal dystrophy	4508	MT-ATP6	OMIM:551500
HP:0000556	Retinal dystrophy	4508	MT-ATP6	ORPHA:644
HP:0000556	Retinal dystrophy	4540	MT-ND5	ORPHA:255210
HP:0000556	Retinal dystrophy	4541	MT-ND6	ORPHA:255210
HP:0000556	Retinal dystrophy	4566	MT-TK	ORPHA:255210
HP:0000556	Retinal dystrophy	8842	PROM1	OMIM:612095
HP:0000556	Retinal dystrophy	6311	ATXN2	OMIM:183090
HP:0000556	Retinal dystrophy	24148	PRPF6	OMIM:613983
HP:0000556	Retinal dystrophy	92840	REEP6	OMIM:617304
HP:0000556	Retinal dystrophy	10461	MERTK	OMIM:613862
HP:0000556	Retinal dystrophy	79947	DHDDS	OMIM:613861
HP:0000556	Retinal dystrophy	9128	PRPF4	OMIM:615922
HP:0000556	Retinal dystrophy	768206	PRCD	OMIM:610599
HP:0000556	Retinal dystrophy	84140	FAM161A	OMIM:606068
HP:0000556	Retinal dystrophy	23020	SNRNP200	OMIM:610359
HP:0000556	Retinal dystrophy	4646	MYO6	OMIM:607821
HP:0000556	Retinal dystrophy	7439	BEST1	OMIM:613194
HP:0000556	Retinal dystrophy	6103	RPGR	OMIM:300455
HP:0000556	Retinal dystrophy	6103	RPGR	ORPHA:244
HP:0000556	Retinal dystrophy	6103	RPGR	OMIM:300029
HP:0000556	Retinal dystrophy	4509	MT-ATP8	ORPHA:254913
HP:0000556	Retinal dystrophy	514	ATP5F1E	ORPHA:254913
HP:0000556	Retinal dystrophy	513	ATP5F1D	ORPHA:254913
HP:0000556	Retinal dystrophy	498	ATP5F1A	ORPHA:254913
HP:0000556	Retinal dystrophy	84833	ATP5MK	ORPHA:254913
HP:0000556	Retinal dystrophy	91647	ATPAF2	ORPHA:254913
HP:0000556	Retinal dystrophy	79797	ZNF408	OMIM:616469
HP:0000556	Retinal dystrophy	4901	NRL	OMIM:613750
HP:0000556	Retinal dystrophy	1259	CNGA1	OMIM:613756
HP:0000556	Retinal dystrophy	1259	CNGA1	OMIM:268000
HP:0000556	Retinal dystrophy	6295	SAG	OMIM:613758
HP:0000556	Retinal dystrophy	6295	SAG	OMIM:620228
HP:0000556	Retinal dystrophy	6295	SAG	ORPHA:75382
HP:0000556	Retinal dystrophy	1509	CTSD	OMIM:610127
HP:0000556	Retinal dystrophy	6100	RP9	OMIM:180104
HP:0000556	Retinal dystrophy	3614	IMPDH1	OMIM:180105
HP:0000556	Retinal dystrophy	24	ABCA4	OMIM:601718
HP:0000556	Retinal dystrophy	26090	ABHD12	OMIM:612674
HP:0000556	Retinal dystrophy	10352	WARS2	ORPHA:572798
HP:0000556	Retinal dystrophy	10352	WARS2	OMIM:617710
HP:0000556	Retinal dystrophy	55012	PPP2R3C	OMIM:618419
HP:0000556	Retinal dystrophy	1201	CLN3	OMIM:204200
HP:0000556	Retinal dystrophy	1258	CNGB1	OMIM:613767
HP:0000556	Retinal dystrophy	5995	RGR	OMIM:613769
HP:0000556	Retinal dystrophy	5373	PMM2	OMIM:212065
HP:0000556	Retinal dystrophy	5373	PMM2	ORPHA:79318
HP:0000556	Retinal dystrophy	491	ATP2B2	OMIM:601386
HP:0000556	Retinal dystrophy	1798	DPAGT1	ORPHA:86309
HP:0000556	Retinal dystrophy	7401	CLRN1	OMIM:614180
HP:0000556	Retinal dystrophy	7401	CLRN1	OMIM:268000
HP:0000556	Retinal dystrophy	7401	CLRN1	OMIM:276902
HP:0000556	Retinal dystrophy	10594	PRPF8	OMIM:600059
HP:0000556	Retinal dystrophy	25794	FSCN2	OMIM:607921
HP:0000556	Retinal dystrophy	4117	MAK	OMIM:614181
HP:0000556	Retinal dystrophy	3098	HK1	OMIM:618547
HP:0000556	Retinal dystrophy	4191	MDH2	OMIM:617339
HP:0000556	Retinal dystrophy	6134	RPL10	ORPHA:459070
HP:0000556	Retinal dystrophy	6134	RPL10	OMIM:300998
HP:0000556	Retinal dystrophy	10518	CIB2	OMIM:614869
HP:0000556	Retinal dystrophy	6101	RP1	OMIM:180100
HP:0000556	Retinal dystrophy	124590	USH1G	OMIM:606943
HP:0000556	Retinal dystrophy	402	ARL2	OMIM:619082
HP:0000556	Retinal dystrophy	3913	LAMB2	OMIM:614199
HP:0000556	Retinal dystrophy	92211	CDHR1	OMIM:613660
HP:0000556	Retinal dystrophy	3420	IDH3B	OMIM:612572
HP:0000556	Retinal dystrophy	57709	SLC7A14	OMIM:615725
HP:0000556	Retinal dystrophy	388939	PCARE	OMIM:613428
HP:0000556	Retinal dystrophy	5191	PEX7	OMIM:614879
HP:0000556	Retinal dystrophy	5191	PEX7	OMIM:266500
HP:0000556	Retinal dystrophy	7355	SLC35A2	OMIM:300896
HP:0000556	Retinal dystrophy	9319	TRIP13	OMIM:617598
HP:0000556	Retinal dystrophy	50484	RRM2B	OMIM:268315
HP:0000556	Retinal dystrophy	64218	SEMA4A	OMIM:610282
HP:0000556	Retinal dystrophy	64218	SEMA4A	OMIM:610283
HP:0000556	Retinal dystrophy	7867	MAPKAPK3	OMIM:617111
HP:0000556	Retinal dystrophy	6121	RPE65	OMIM:613794
HP:0000556	Retinal dystrophy	10002	NR2E3	OMIM:611131
HP:0000556	Retinal dystrophy	2625	GATA3	ORPHA:2237
HP:0000556	Retinal dystrophy	2779	GNAT1	OMIM:616389
HP:0000556	Retinal dystrophy	29929	ALG6	ORPHA:79320
HP:0000556	Retinal dystrophy	3166	HMX1	OMIM:612109
HP:0000556	Retinal dystrophy	25981	DNAH1	ORPHA:244
HP:0000556	Retinal dystrophy	115948	ODAD3	ORPHA:244
HP:0000556	Retinal dystrophy	54768	HYDIN	ORPHA:244
HP:0000556	Retinal dystrophy	352909	DNAAF3	ORPHA:244
HP:0000556	Retinal dystrophy	27148	STK36	ORPHA:244
HP:0000556	Retinal dystrophy	51314	NME8	ORPHA:244
HP:0000556	Retinal dystrophy	92749	DRC1	ORPHA:244
HP:0000556	Retinal dystrophy	54970	TTC12	ORPHA:244
HP:0000556	Retinal dystrophy	152110	NEK10	ORPHA:244
HP:0000556	Retinal dystrophy	8481	OFD1	ORPHA:244
HP:0000556	Retinal dystrophy	8481	OFD1	OMIM:300424
HP:0000556	Retinal dystrophy	8481	OFD1	OMIM:300804
HP:0000556	Retinal dystrophy	2302	FOXJ1	ORPHA:244
HP:0000556	Retinal dystrophy	221421	RSPH9	ORPHA:244
HP:0000556	Retinal dystrophy	85478	CCDC65	ORPHA:244
HP:0000556	Retinal dystrophy	55036	CCDC40	ORPHA:244
HP:0000556	Retinal dystrophy	51364	ZMYND10	ORPHA:244
HP:0000556	Retinal dystrophy	64446	DNAI2	ORPHA:244
HP:0000556	Retinal dystrophy	8382	NME5	ORPHA:244
HP:0000556	Retinal dystrophy	6674	SPAG1	ORPHA:244
HP:0000556	Retinal dystrophy	83544	DNAL1	ORPHA:244
HP:0000556	Retinal dystrophy	89765	RSPH1	ORPHA:244
HP:0000556	Retinal dystrophy	83538	ODAD4	ORPHA:244
HP:0000556	Retinal dystrophy	200373	CFAP221	ORPHA:244
HP:0000556	Retinal dystrophy	374407	DNAJB13	ORPHA:244
HP:0000556	Retinal dystrophy	55172	DNAAF2	ORPHA:244
HP:0000556	Retinal dystrophy	161582	DNAAF4	ORPHA:244
HP:0000556	Retinal dystrophy	2622	GAS8	ORPHA:244
HP:0000556	Retinal dystrophy	23639	DNAAF11	ORPHA:244
HP:0000556	Retinal dystrophy	27019	DNAI1	ORPHA:244
HP:0000556	Retinal dystrophy	345895	RSPH4A	ORPHA:244
HP:0000556	Retinal dystrophy	54919	DNAAF5	ORPHA:244
HP:0000556	Retinal dystrophy	85452	CFAP74	ORPHA:244
HP:0000556	Retinal dystrophy	93233	ODAD1	ORPHA:244
HP:0000556	Retinal dystrophy	55130	ODAD2	ORPHA:244
HP:0000556	Retinal dystrophy	1767	DNAH5	ORPHA:244
HP:0000556	Retinal dystrophy	83861	RSPH3	ORPHA:244
HP:0000556	Retinal dystrophy	345643	MCIDAS	ORPHA:244
HP:0000556	Retinal dystrophy	56683	CFAP298	ORPHA:244
HP:0000556	Retinal dystrophy	79925	SPEF2	ORPHA:244
HP:0000556	Retinal dystrophy	10309	CCNO	ORPHA:244
HP:0000556	Retinal dystrophy	115399	LRRC56	ORPHA:244
HP:0000556	Retinal dystrophy	139212	DNAAF6	ORPHA:244
HP:0000556	Retinal dystrophy	123872	DNAAF1	ORPHA:244
HP:0000556	Retinal dystrophy	85016	CFAP300	ORPHA:244
HP:0000556	Retinal dystrophy	339829	CCDC39	ORPHA:244
HP:0000556	Retinal dystrophy	8701	DNAH11	ORPHA:244
HP:0000556	Retinal dystrophy	1770	DNAH9	ORPHA:244
HP:0000556	Retinal dystrophy	246176	GAS2L2	ORPHA:244
HP:0000556	Retinal dystrophy	3329	HSPD1	ORPHA:100994
HP:0000556	Retinal dystrophy	3798	KIF5A	ORPHA:100991
HP:0000556	Retinal dystrophy	80025	PANK2	ORPHA:216866
HP:0000556	Retinal dystrophy	25861	WHRN	OMIM:611383
HP:0000556	Retinal dystrophy	7287	TULP1	OMIM:600132
HP:0000556	Retinal dystrophy	26121	PRPF31	OMIM:600138
HP:0000556	Retinal dystrophy	196	AHR	OMIM:618345
HP:0000556	Retinal dystrophy	9785	DHX38	OMIM:618220
HP:0000556	Retinal dystrophy	89891	DYNC2I2	OMIM:615633
HP:0000556	Retinal dystrophy	23078	VWA8	OMIM:620422
HP:0000556	Retinal dystrophy	23600	AMACR	OMIM:614307
HP:0000556	Retinal dystrophy	5148	PDE6G	OMIM:268000
HP:0000556	Retinal dystrophy	5148	PDE6G	OMIM:613582
HP:0000556	Retinal dystrophy	23746	AIPL1	OMIM:268000
HP:0000556	Retinal dystrophy	1406	CRX	OMIM:268000
HP:0000556	Retinal dystrophy	5264	PHYH	OMIM:266500
HP:0000556	Retinal dystrophy	50939	IMPG2	OMIM:613581
HP:0000556	Retinal dystrophy	60509	AGBL5	OMIM:617023
HP:0000556	Retinal dystrophy	443	ASPA	ORPHA:314918
HP:0000556	Retinal dystrophy	346007	EYS	OMIM:602772
HP:0000556	Retinal dystrophy	4694	NDUFA1	OMIM:301020
HP:0000556	Retinal dystrophy	27235	COQ2	OMIM:607426
HP:0000556	Retinal dystrophy	28982	FLVCR1	ORPHA:88628
HP:0000556	Retinal dystrophy	28982	FLVCR1	OMIM:609033
HP:0000556	Retinal dystrophy	4704	NDUFA9	OMIM:618247
HP:0000556	Retinal dystrophy	8120	AP3B2	OMIM:617276
HP:0000556	Retinal dystrophy	55975	KLHL7	OMIM:612943
HP:0000556	Retinal dystrophy	55975	KLHL7	OMIM:617055
HP:0000556	Retinal dystrophy	2232	FDXR	OMIM:617717
HP:0000556	Retinal dystrophy	6102	RP2	OMIM:312600
HP:0000556	Retinal dystrophy	4647	MYO7A	OMIM:276900
HP:0000556	Retinal dystrophy	10083	USH1C	OMIM:276900
HP:0000556	Retinal dystrophy	10083	USH1C	OMIM:276904
HP:0000556	Retinal dystrophy	4547	MTTP	ORPHA:14
HP:0000556	Retinal dystrophy	7399	USH2A	OMIM:276901
HP:0000556	Retinal dystrophy	7399	USH2A	OMIM:613809
HP:0000556	Retinal dystrophy	79955	PDZD7	OMIM:276901
HP:0000556	Retinal dystrophy	79955	PDZD7	OMIM:605472
HP:0000556	Retinal dystrophy	23418	CRB1	OMIM:600105
HP:0000556	Retinal dystrophy	55857	KIZ	OMIM:615780
HP:0000556	Retinal dystrophy	149461	CLDN19	OMIM:248190
HP:0000556	Retinal dystrophy	5158	PDE6B	OMIM:613801
HP:0000556	Retinal dystrophy	3028	HSD17B10	ORPHA:391428
HP:0000556	Retinal dystrophy	84059	ADGRV1	OMIM:605472
HP:0000556	Retinal dystrophy	51095	TRNT1	OMIM:616084
HP:0000556	Retinal dystrophy	23568	ARL2BP	OMIM:615434
HP:0000556	Retinal dystrophy	9894	TELO2	ORPHA:488642
HP:0000556	Retinal dystrophy	338	APOB	OMIM:615558
HP:0000556	Retinal dystrophy	5145	PDE6A	OMIM:613810
HP:0000556	Retinal dystrophy	10283	CWC27	OMIM:250410
HP:0000556	Retinal dystrophy	10283	CWC27	ORPHA:166035
HP:0000556	Retinal dystrophy	6011	GRK1	ORPHA:75382
HP:0000556	Retinal dystrophy	9129	PRPF3	OMIM:601414
HP:0000556	Retinal dystrophy	5189	PEX1	OMIM:601539
HP:0000556	Retinal dystrophy	5189	PEX1	ORPHA:772
HP:0000556	Retinal dystrophy	4751	NEK2	OMIM:615565
HP:0000556	Retinal dystrophy	9371	KIF3B	OMIM:618955
HP:0000556	Retinal dystrophy	617	BCS1L	OMIM:124000
HP:0000556	Retinal dystrophy	2979	GUCA1B	OMIM:613827
HP:0000556	Retinal dystrophy	5824	PEX19	ORPHA:772
HP:0000556	Retinal dystrophy	8504	PEX3	ORPHA:772
HP:0000556	Retinal dystrophy	8799	PEX11B	ORPHA:772
HP:0000556	Retinal dystrophy	5830	PEX5	ORPHA:772
HP:0000556	Retinal dystrophy	5194	PEX13	ORPHA:772
HP:0000556	Retinal dystrophy	5195	PEX14	ORPHA:772
HP:0000556	Retinal dystrophy	51	ACOX1	OMIM:264470
HP:0000556	Retinal dystrophy	403	ARL3	OMIM:618161
HP:0000556	Retinal dystrophy	403	ARL3	OMIM:618173
HP:0000556	Retinal dystrophy	10210	TOPORS	OMIM:609923
HP:0000556	Retinal dystrophy	138050	HGSNAT	OMIM:616544
HP:0000556	Retinal dystrophy	138050	HGSNAT	OMIM:252930
HP:0000556	Retinal dystrophy	253827	MSRB3	OMIM:613718
HP:0000556	Retinal dystrophy	79644	SRD5A3	ORPHA:324737
HP:0000556	Retinal dystrophy	23404	EXOSC2	OMIM:617763
HP:0000556	Retinal dystrophy	375298	CERKL	OMIM:608380
HP:0000556	Retinal dystrophy	778	CACNA1F	OMIM:300476
HP:0000556	Retinal dystrophy	5146	PDE6C	OMIM:613093
HP:0000556	Retinal dystrophy	83394	PITPNM3	OMIM:600977
HP:0000556	Retinal dystrophy	84839	RAX2	OMIM:610381
HP:0000556	Retinal dystrophy	9364	RAB28	OMIM:615374
HP:0000556	Retinal dystrophy	282809	POC1B	OMIM:615973
HP:0000556	Retinal dystrophy	57096	RPGRIP1	OMIM:608194
HP:0000556	Retinal dystrophy	26504	CNNM4	OMIM:217080
HP:0000556	Retinal dystrophy	2978	GUCA1A	OMIM:602093
HP:0000556	Retinal dystrophy	9094	UNC119	OMIM:620342
HP:0000556	Retinal dystrophy	6314	ATXN7	ORPHA:94147
HP:0000556	Retinal dystrophy	3000	GUCY2D	OMIM:601777
HP:0000556	Retinal dystrophy	5130	PCYT1A	ORPHA:85167
HP:0000556	Retinal dystrophy	5130	PCYT1A	OMIM:608940
HP:0000556	Retinal dystrophy	23093	TTLL5	OMIM:615860
HP:0000556	Retinal dystrophy	10464	PIBF1	OMIM:617767
HP:0000556	Retinal dystrophy	8754	ADAM9	OMIM:612775
HP:0000556	Retinal dystrophy	169522	KCNV2	OMIM:610356
HP:0000556	Retinal dystrophy	93589	CACNA2D4	OMIM:610478
HP:0000556	Retinal dystrophy	55768	NGLY1	ORPHA:404454
HP:0000556	Retinal dystrophy	80216	ALPK1	OMIM:614979
HP:0000556	Retinal dystrophy	27183	VPS4A	OMIM:619273
HP:0000556	Retinal dystrophy	25970	SH2B1	ORPHA:261222
HP:0000556	Retinal dystrophy	4750	NEK1	OMIM:263520
HP:0000556	Retinal dystrophy	5193	PEX12	OMIM:266510
HP:0000556	Retinal dystrophy	92482	BBIP1	OMIM:615995
HP:0000556	Retinal dystrophy	92482	BBIP1	ORPHA:110
HP:0000556	Retinal dystrophy	1161	ERCC8	ORPHA:90324
HP:0000556	Retinal dystrophy	2074	ERCC6	ORPHA:90324
HP:0000556	Retinal dystrophy	54973	INTS11	OMIM:620428
HP:0000556	Retinal dystrophy	100151683	RNU4ATAC	ORPHA:353298
HP:0000556	Retinal dystrophy	100151683	RNU4ATAC	OMIM:616651
HP:0000556	Retinal dystrophy	51259	TMEM216	OMIM:608091
HP:0000556	Retinal dystrophy	51259	TMEM216	ORPHA:2318
HP:0000556	Retinal dystrophy	56623	INPP5E	OMIM:213300
HP:0000556	Retinal dystrophy	56623	INPP5E	ORPHA:220493
HP:0000556	Retinal dystrophy	56623	INPP5E	ORPHA:75858
HP:0000556	Retinal dystrophy	56623	INPP5E	OMIM:610156
HP:0000556	Retinal dystrophy	2896	GRN	OMIM:614706
HP:0000556	Retinal dystrophy	1605	DAG1	ORPHA:370997
HP:0000556	Retinal dystrophy	1605	DAG1	ORPHA:899
HP:0000556	Retinal dystrophy	1605	DAG1	OMIM:616538
HP:0000556	Retinal dystrophy	79848	CSPP1	ORPHA:397715
HP:0000556	Retinal dystrophy	9786	KIAA0586	ORPHA:397715
HP:0000556	Retinal dystrophy	5631	PRPS1	ORPHA:423479
HP:0000556	Retinal dystrophy	4867	NPHP1	OMIM:266900
HP:0000556	Retinal dystrophy	4867	NPHP1	ORPHA:110
HP:0000556	Retinal dystrophy	4867	NPHP1	ORPHA:3156
HP:0000556	Retinal dystrophy	64801	ARV1	OMIM:617020
HP:0000556	Retinal dystrophy	9227	LRAT	OMIM:613341
HP:0000556	Retinal dystrophy	219854	TMEM218	OMIM:619562
HP:0000556	Retinal dystrophy	8882	ZPR1	OMIM:619321
HP:0000556	Retinal dystrophy	755	CFAP410	OMIM:617547
HP:0000556	Retinal dystrophy	23322	RPGRIP1L	OMIM:611560
HP:0000556	Retinal dystrophy	54806	AHI1	ORPHA:220493
HP:0000556	Retinal dystrophy	54806	AHI1	OMIM:608629
HP:0000556	Retinal dystrophy	153241	CEP120	ORPHA:220493
HP:0000556	Retinal dystrophy	54903	MKS1	ORPHA:220493
HP:0000556	Retinal dystrophy	54903	MKS1	ORPHA:110
HP:0000556	Retinal dystrophy	95681	CEP41	ORPHA:220493
HP:0000556	Retinal dystrophy	95681	CEP41	OMIM:614464
HP:0000556	Retinal dystrophy	80055	PGAP1	OMIM:615802
HP:0000556	Retinal dystrophy	50	ACO2	OMIM:614559
HP:0000556	Retinal dystrophy	10560	SLC19A2	ORPHA:49827
HP:0000556	Retinal dystrophy	51010	EXOSC3	OMIM:614678
HP:0000556	Retinal dystrophy	84892	POMGNT2	ORPHA:899
HP:0000556	Retinal dystrophy	148789	B3GALNT2	ORPHA:899
HP:0000556	Retinal dystrophy	79147	FKRP	ORPHA:899
HP:0000556	Retinal dystrophy	29954	POMT2	ORPHA:899
HP:0000556	Retinal dystrophy	9215	LARGE1	ORPHA:899
HP:0000556	Retinal dystrophy	1282	COL4A1	ORPHA:899
HP:0000556	Retinal dystrophy	729920	CRPPA	ORPHA:899
HP:0000556	Retinal dystrophy	10329	RXYLT1	ORPHA:899
HP:0000556	Retinal dystrophy	11041	B4GAT1	ORPHA:899
HP:0000556	Retinal dystrophy	10585	POMT1	ORPHA:899
HP:0000556	Retinal dystrophy	10585	POMT1	OMIM:613155
HP:0000556	Retinal dystrophy	84197	POMK	ORPHA:899
HP:0000556	Retinal dystrophy	2218	FKTN	ORPHA:899
HP:0000556	Retinal dystrophy	55624	POMGNT1	ORPHA:899
HP:0000556	Retinal dystrophy	7275	TUB	OMIM:616188
HP:0000556	Retinal dystrophy	128338	DRAM2	OMIM:616502
HP:0000556	Retinal dystrophy	4358	MPV17	OMIM:256810
HP:0000556	Retinal dystrophy	5015	OTX2	OMIM:610125
HP:0000556	Retinal dystrophy	51109	RDH11	OMIM:616108
HP:0000556	Retinal dystrophy	84100	ARL6	OMIM:209900
HP:0000556	Retinal dystrophy	84100	ARL6	ORPHA:110
HP:0000556	Retinal dystrophy	79140	CCDC28B	OMIM:209900
HP:0000556	Retinal dystrophy	582	BBS1	OMIM:209900
HP:0000556	Retinal dystrophy	582	BBS1	ORPHA:110
HP:0000556	Retinal dystrophy	26146	TRAF3IP1	OMIM:616629
HP:0000556	Retinal dystrophy	26146	TRAF3IP1	ORPHA:3156
HP:0000556	Retinal dystrophy	79583	TMEM231	ORPHA:2318
HP:0000556	Retinal dystrophy	51524	TMEM138	ORPHA:2318
HP:0000556	Retinal dystrophy	51524	TMEM138	OMIM:614465
HP:0000556	Retinal dystrophy	23090	ZNF423	ORPHA:2318
HP:0000556	Retinal dystrophy	80184	CEP290	ORPHA:2318
HP:0000556	Retinal dystrophy	80184	CEP290	ORPHA:110
HP:0000556	Retinal dystrophy	80184	CEP290	ORPHA:3156
HP:0000556	Retinal dystrophy	57545	CC2D2A	ORPHA:2318
HP:0000556	Retinal dystrophy	57545	CC2D2A	OMIM:612285
HP:0000556	Retinal dystrophy	65062	TMEM237	ORPHA:2318
HP:0000556	Retinal dystrophy	55764	IFT122	OMIM:218330
HP:0000556	Retinal dystrophy	54539	NDUFB11	ORPHA:2556
HP:0000556	Retinal dystrophy	1349	COX7B	ORPHA:2556
HP:0000556	Retinal dystrophy	3052	HCCS	ORPHA:2556
HP:0000556	Retinal dystrophy	57531	HACE1	ORPHA:464282
HP:0000556	Retinal dystrophy	57531	HACE1	OMIM:616756
HP:0000556	Retinal dystrophy	652	BMP4	OMIM:607932
HP:0000556	Retinal dystrophy	652	BMP4	ORPHA:139471
HP:0000556	Retinal dystrophy	283987	HID1	OMIM:619983
HP:0000556	Retinal dystrophy	5277	PIGA	OMIM:300868
HP:0000556	Retinal dystrophy	9445	ITM2B	OMIM:616079
HP:0000556	Retinal dystrophy	1410	CRYAB	OMIM:613763
HP:0000556	Retinal dystrophy	5950	RBP4	OMIM:615147
HP:0000556	Retinal dystrophy	4036	LRP2	ORPHA:2143
HP:0000556	Retinal dystrophy	4036	LRP2	OMIM:222448
HP:0000556	Retinal dystrophy	5230	PGK1	ORPHA:713
HP:0000556	Retinal dystrophy	5230	PGK1	OMIM:300653
HP:0000556	Retinal dystrophy	145226	RDH12	OMIM:612712
HP:0000556	Retinal dystrophy	7840	ALMS1	ORPHA:64
HP:0000556	Retinal dystrophy	11020	IFT27	ORPHA:110
HP:0000556	Retinal dystrophy	49855	SCAPER	ORPHA:110
HP:0000556	Retinal dystrophy	51057	WDPCP	ORPHA:110
HP:0000556	Retinal dystrophy	132320	SCLT1	ORPHA:110
HP:0000556	Retinal dystrophy	27241	BBS9	ORPHA:110
HP:0000556	Retinal dystrophy	84984	CEP19	ORPHA:110
HP:0000556	Retinal dystrophy	22954	TRIM32	ORPHA:110
HP:0000556	Retinal dystrophy	79738	BBS10	ORPHA:110
HP:0000556	Retinal dystrophy	79738	BBS10	OMIM:615987
HP:0000556	Retinal dystrophy	123016	TTC8	ORPHA:110
HP:0000556	Retinal dystrophy	26160	IFT172	ORPHA:110
HP:0000556	Retinal dystrophy	583	BBS2	ORPHA:110
HP:0000556	Retinal dystrophy	585	BBS4	ORPHA:110
HP:0000556	Retinal dystrophy	8195	MKKS	ORPHA:110
HP:0000556	Retinal dystrophy	54585	LZTFL1	ORPHA:110
HP:0000556	Retinal dystrophy	55212	BBS7	ORPHA:110
HP:0000556	Retinal dystrophy	166379	BBS12	ORPHA:110
HP:0000556	Retinal dystrophy	10806	SDCCAG8	ORPHA:110
HP:0000556	Retinal dystrophy	10806	SDCCAG8	ORPHA:3156
HP:0000556	Retinal dystrophy	157657	CFAP418	ORPHA:110
HP:0000556	Retinal dystrophy	129880	BBS5	ORPHA:110
HP:0000556	Retinal dystrophy	80173	IFT74	ORPHA:110
HP:0000556	Retinal dystrophy	55213	RCBTB1	OMIM:617175
HP:0000556	Retinal dystrophy	134218	DNAJC21	OMIM:617052
HP:0000556	Retinal dystrophy	1182	CLCN3	OMIM:619512
HP:0000556	Retinal dystrophy	7737	RNF113A	OMIM:300953
HP:0000556	Retinal dystrophy	5190	PEX6	OMIM:614863
HP:0000556	Retinal dystrophy	5828	PEX2	OMIM:614867
HP:0000556	Retinal dystrophy	286	ANK1	ORPHA:251066
HP:0000556	Retinal dystrophy	10908	PNPLA6	OMIM:215470
HP:0000556	Retinal dystrophy	55670	PEX26	OMIM:614873
HP:0000556	Retinal dystrophy	92002	CCNQ	ORPHA:140952
HP:0000556	Retinal dystrophy	80210	ARMC9	OMIM:617622
HP:0000556	Retinal dystrophy	284217	LAMA1	OMIM:615960
HP:0000556	Retinal dystrophy	284217	LAMA1	ORPHA:370022
HP:0000556	Retinal dystrophy	3832	KIF11	ORPHA:2526
HP:0000556	Retinal dystrophy	5192	PEX10	OMIM:614871
HP:0000556	Retinal dystrophy	9409	PEX16	OMIM:614877
HP:0000556	Retinal dystrophy	6017	RLBP1	OMIM:607476
HP:0000556	Retinal dystrophy	6017	RLBP1	OMIM:607475
HP:0000556	Retinal dystrophy	57728	WDR19	OMIM:616307
HP:0000556	Retinal dystrophy	57728	WDR19	ORPHA:3156
HP:0000556	Retinal dystrophy	4990	SIX6	OMIM:212550
HP:0000556	Retinal dystrophy	9742	IFT140	OMIM:266920
HP:0000556	Retinal dystrophy	4921	DDR2	OMIM:618175
HP:0000556	Retinal dystrophy	85378	TUBGCP6	OMIM:251270
HP:0000556	Retinal dystrophy	2202	EFEMP1	OMIM:126600
HP:0000556	Retinal dystrophy	9657	IQCB1	ORPHA:3156
HP:0000556	Retinal dystrophy	27130	INVS	ORPHA:3156
HP:0000556	Retinal dystrophy	261734	NPHP4	ORPHA:3156
HP:0000556	Retinal dystrophy	27031	NPHP3	ORPHA:3156
HP:0000556	Retinal dystrophy	22897	CEP164	ORPHA:3156
HP:0000556	Retinal dystrophy	89910	UBE3B	ORPHA:2707
HP:0000556	Retinal dystrophy	157680	VPS13B	ORPHA:193
HP:0000556	Retinal dystrophy	157680	VPS13B	OMIM:216550
HP:0000556	Retinal dystrophy	440435	GPR179	OMIM:614565
HP:0000556	Retinal dystrophy	345193	LRIT3	OMIM:615058
HP:0000556	Retinal dystrophy	9187	SLC24A1	OMIM:613830
HP:0000556	Retinal dystrophy	4308	TRPM1	OMIM:613216
HP:0000556	Retinal dystrophy	60506	NYX	OMIM:310500
HP:0000556	Retinal dystrophy	2263	FGFR2	ORPHA:313855
HP:0000556	Retinal dystrophy	57010	CABP4	OMIM:610427
HP:0000556	Retinal dystrophy	2916	GRM6	OMIM:257270
HP:0000556	Retinal dystrophy	83696	TRAPPC9	ORPHA:352530
HP:0000556	Retinal dystrophy	3075	CFH	ORPHA:75376
HP:0000556	Retinal dystrophy	3426	CFI	ORPHA:75376
HP:0000556	Retinal dystrophy	6785	ELOVL4	OMIM:600110
HP:0000556	Retinal dystrophy	4166	CHST6	OMIM:217800
HP:0000556	Retinal dystrophy	3617	IMPG1	OMIM:153870
HP:0000556	Retinal dystrophy	3617	IMPG1	OMIM:616151
HP:0000556	Retinal dystrophy	1001	CDH3	OMIM:225280
HP:0000556	Retinal dystrophy	1001	CDH3	OMIM:601553
HP:0000556	Retinal dystrophy	1001	CDH3	ORPHA:1897
HP:0000556	Retinal dystrophy	344658	SAMD7	OMIM:620762
HP:0000556	Retinal dystrophy	93426	SYCE1	OMIM:616947
HP:0000556	Retinal dystrophy	4644	MYO5A	ORPHA:33445
HP:0000556	Retinal dystrophy	256471	MFSD8	OMIM:616170
HP:0000556	Retinal dystrophy	7078	TIMP3	OMIM:136900
HP:0000556	Retinal dystrophy	7078	TIMP3	ORPHA:59181
HP:0000556	Retinal dystrophy	94137	RP1L1	OMIM:613587
HP:0000556	Retinal dystrophy	1495	CTNNA1	OMIM:608970
HP:0000556	Retinal dystrophy	5149	PDE6H	OMIM:610024
HP:0000556	Retinal dystrophy	2784	GNB3	ORPHA:215
HP:0000556	Retinal dystrophy	5959	RDH5	OMIM:136880
HP:0007738	Uncontrolled eye movements	55624	POMGNT1	OMIM:253280
HP:0007738	Uncontrolled eye movements	6513	SLC2A1	ORPHA:64280
HP:0007738	Uncontrolled eye movements	2562	GABRB3	ORPHA:64280
HP:0007738	Uncontrolled eye movements	2554	GABRA1	ORPHA:64280
HP:0007738	Uncontrolled eye movements	8912	CACNA1H	ORPHA:64280
HP:0007738	Uncontrolled eye movements	8629	JRK	ORPHA:64280
HP:0007738	Uncontrolled eye movements	2566	GABRG2	ORPHA:64280
HP:0007738	Uncontrolled eye movements	135	ADORA2A	ORPHA:363549
HP:0007740	Long eyelashes in irregular rows	3339	HSPG2	OMIM:255800
HP:0007740	Long eyelashes in irregular rows	3339	HSPG2	ORPHA:800
HP:0007740	Long eyelashes in irregular rows	29957	SLC25A24	ORPHA:2963
HP:0001360	Holoprosencephaly	2737	GLI3	ORPHA:672
HP:0001360	Holoprosencephaly	2737	GLI3	OMIM:146510
HP:0001360	Holoprosencephaly	5396	PRRX1	ORPHA:990
HP:0001360	Holoprosencephaly	5396	PRRX1	OMIM:202650
HP:0001360	Holoprosencephaly	5015	OTX2	ORPHA:990
HP:0001360	Holoprosencephaly	5015	OTX2	ORPHA:95494
HP:0001360	Holoprosencephaly	27238	GPKOW	ORPHA:2570
HP:0001360	Holoprosencephaly	23019	CNOT1	OMIM:619033
HP:0001360	Holoprosencephaly	23019	CNOT1	ORPHA:556955
HP:0001360	Holoprosencephaly	4659	PPP1R12A	OMIM:618820
HP:0001360	Holoprosencephaly	50937	CDON	OMIM:614226
HP:0001360	Holoprosencephaly	50937	CDON	ORPHA:280200
HP:0001360	Holoprosencephaly	79770	TXNDC15	OMIM:619879
HP:0001360	Holoprosencephaly	2218	FKTN	OMIM:253800
HP:0001360	Holoprosencephaly	2218	FKTN	ORPHA:588
HP:0001360	Holoprosencephaly	2261	FGFR3	ORPHA:93274
HP:0001360	Holoprosencephaly	148789	B3GALNT2	ORPHA:588
HP:0001360	Holoprosencephaly	29925	GMPPB	ORPHA:588
HP:0001360	Holoprosencephaly	79147	FKRP	ORPHA:588
HP:0001360	Holoprosencephaly	9215	LARGE1	ORPHA:588
HP:0001360	Holoprosencephaly	29954	POMT2	ORPHA:588
HP:0001360	Holoprosencephaly	729920	CRPPA	ORPHA:588
HP:0001360	Holoprosencephaly	55624	POMGNT1	ORPHA:588
HP:0001360	Holoprosencephaly	10585	POMT1	ORPHA:588
HP:0001360	Holoprosencephaly	6469	SHH	OMIM:611638
HP:0001360	Holoprosencephaly	6469	SHH	ORPHA:280200
HP:0001360	Holoprosencephaly	6469	SHH	OMIM:147250
HP:0001360	Holoprosencephaly	6469	SHH	OMIM:142945
HP:0001360	Holoprosencephaly	5727	PTCH1	OMIM:610828
HP:0001360	Holoprosencephaly	5727	PTCH1	ORPHA:280200
HP:0001360	Holoprosencephaly	2736	GLI2	OMIM:610829
HP:0001360	Holoprosencephaly	2736	GLI2	ORPHA:95494
HP:0001360	Holoprosencephaly	2736	GLI2	ORPHA:280200
HP:0001360	Holoprosencephaly	5626	PROP1	ORPHA:95494
HP:0001360	Holoprosencephaly	89884	LHX4	ORPHA:95494
HP:0001360	Holoprosencephaly	3170	FOXA2	ORPHA:95494
HP:0001360	Holoprosencephaly	5449	POU1F1	ORPHA:95494
HP:0001360	Holoprosencephaly	8820	HESX1	ORPHA:95494
HP:0001360	Holoprosencephaly	6299	SALL1	OMIM:107480
HP:0001360	Holoprosencephaly	3199	HOXA2	ORPHA:83463
HP:0001360	Holoprosencephaly	22858	CILK1	OMIM:612651
HP:0001360	Holoprosencephaly	1717	DHCR7	ORPHA:818
HP:0001360	Holoprosencephaly	1717	DHCR7	OMIM:270400
HP:0001360	Holoprosencephaly	55636	CHD7	ORPHA:138
HP:0001360	Holoprosencephaly	55636	CHD7	OMIM:214800
HP:0001360	Holoprosencephaly	9723	SEMA3E	ORPHA:138
HP:0001360	Holoprosencephaly	2260	FGFR1	ORPHA:280200
HP:0001360	Holoprosencephaly	28514	DLL1	ORPHA:280200
HP:0001360	Holoprosencephaly	2253	FGF8	ORPHA:280200
HP:0001360	Holoprosencephaly	6496	SIX3	ORPHA:280200
HP:0001360	Holoprosencephaly	6496	SIX3	OMIM:157170
HP:0001360	Holoprosencephaly	7050	TGIF1	ORPHA:280200
HP:0001360	Holoprosencephaly	4838	NODAL	ORPHA:280200
HP:0001360	Holoprosencephaly	51684	SUFU	ORPHA:280200
HP:0001360	Holoprosencephaly	7546	ZIC2	ORPHA:280200
HP:0001360	Holoprosencephaly	7546	ZIC2	OMIM:609637
HP:0001360	Holoprosencephaly	2619	GAS1	ORPHA:280200
HP:0001360	Holoprosencephaly	84976	DISP1	ORPHA:280200
HP:0001360	Holoprosencephaly	8928	FOXH1	ORPHA:280200
HP:0001360	Holoprosencephaly	6997	CRIPTO	ORPHA:280200
HP:0001360	Holoprosencephaly	6657	SOX2	ORPHA:77298
HP:0001360	Holoprosencephaly	23007	PLCH1	OMIM:619895
HP:0001360	Holoprosencephaly	5925	RB1	ORPHA:1587
HP:0001360	Holoprosencephaly	4524	MTHFR	ORPHA:563612
HP:0001360	Holoprosencephaly	57216	VANGL2	ORPHA:563612
HP:0001360	Holoprosencephaly	9184	BUB3	ORPHA:1052
HP:0001360	Holoprosencephaly	699	BUB1	ORPHA:1052
HP:0001360	Holoprosencephaly	9702	CEP57	ORPHA:1052
HP:0001360	Holoprosencephaly	9319	TRIP13	ORPHA:1052
HP:0001360	Holoprosencephaly	701	BUB1B	ORPHA:1052
HP:0001360	Holoprosencephaly	3897	L1CAM	ORPHA:2182
HP:0001360	Holoprosencephaly	124997	WDR81	OMIM:617967
HP:0001360	Holoprosencephaly	26005	C2CD3	OMIM:615948
HP:0001360	Holoprosencephaly	10735	STAG2	OMIM:301043
HP:0001360	Holoprosencephaly	8243	SMC1A	OMIM:301044
HP:0001360	Holoprosencephaly	22872	SEC31A	OMIM:618651
HP:0001360	Holoprosencephaly	27145	FILIP1	OMIM:620775
HP:0001360	Holoprosencephaly	84314	TMEM107	ORPHA:564
HP:0001360	Holoprosencephaly	26123	TCTN3	ORPHA:564
HP:0001360	Holoprosencephaly	79867	TCTN2	ORPHA:564
HP:0001360	Holoprosencephaly	80776	B9D2	ORPHA:564
HP:0001360	Holoprosencephaly	79600	TCTN1	ORPHA:564
HP:0001360	Holoprosencephaly	57096	RPGRIP1	ORPHA:564
HP:0001360	Holoprosencephaly	79848	CSPP1	ORPHA:564
HP:0001360	Holoprosencephaly	80184	CEP290	ORPHA:564
HP:0001360	Holoprosencephaly	51259	TMEM216	ORPHA:564
HP:0001360	Holoprosencephaly	57545	CC2D2A	ORPHA:564
HP:0001360	Holoprosencephaly	79583	TMEM231	ORPHA:564
HP:0001360	Holoprosencephaly	91147	TMEM67	ORPHA:564
HP:0001360	Holoprosencephaly	27077	B9D1	ORPHA:564
HP:0001360	Holoprosencephaly	23322	RPGRIP1L	ORPHA:564
HP:0001360	Holoprosencephaly	54903	MKS1	ORPHA:564
HP:0001360	Holoprosencephaly	65062	TMEM237	ORPHA:564
HP:0001360	Holoprosencephaly	5885	RAD21	OMIM:614701
HP:0001360	Holoprosencephaly	25914	RTTN	ORPHA:468631
HP:0001360	Holoprosencephaly	8085	KMT2D	OMIM:147920
HP:0001360	Holoprosencephaly	7403	KDM6A	OMIM:147920
HP:0001361	Nystagmus-induced head nodding	6804	STX1A	ORPHA:904
HP:0001361	Nystagmus-induced head nodding	7461	CLIP2	ORPHA:904
HP:0001361	Nystagmus-induced head nodding	84277	DNAJC30	ORPHA:904
HP:0001361	Nystagmus-induced head nodding	8468	FKBP6	ORPHA:904
HP:0001361	Nystagmus-induced head nodding	5982	RFC2	ORPHA:904
HP:0001361	Nystagmus-induced head nodding	2969	GTF2I	ORPHA:904
HP:0001361	Nystagmus-induced head nodding	3984	LIMK1	ORPHA:904
HP:0001361	Nystagmus-induced head nodding	9569	GTF2IRD1	ORPHA:904
HP:0001361	Nystagmus-induced head nodding	155382	VPS37D	ORPHA:904
HP:0001361	Nystagmus-induced head nodding	155368	METTL27	ORPHA:904
HP:0001361	Nystagmus-induced head nodding	114049	BUD23	ORPHA:904
HP:0001361	Nystagmus-induced head nodding	7458	EIF4H	ORPHA:904
HP:0001361	Nystagmus-induced head nodding	84163	GTF2IRD2	ORPHA:904
HP:0001361	Nystagmus-induced head nodding	26608	TBL2	ORPHA:904
HP:0001361	Nystagmus-induced head nodding	653361	NCF1	ORPHA:904
HP:0001361	Nystagmus-induced head nodding	135886	TMEM270	ORPHA:904
HP:0001361	Nystagmus-induced head nodding	9031	BAZ1B	ORPHA:904
HP:0001361	Nystagmus-induced head nodding	2006	ELN	ORPHA:904
HP:0001361	Nystagmus-induced head nodding	4935	GPR143	OMIM:300500
HP:0001362	Calvarial skull defect	341640	FREM2	ORPHA:2052
HP:0001362	Calvarial skull defect	80144	FRAS1	ORPHA:2052
HP:0001362	Calvarial skull defect	80144	FRAS1	OMIM:219000
HP:0001362	Calvarial skull defect	23426	GRIP1	ORPHA:2052
HP:0001362	Calvarial skull defect	3339	HSPG2	OMIM:224410
HP:0001362	Calvarial skull defect	60529	ALX4	OMIM:613451
HP:0001362	Calvarial skull defect	60529	ALX4	ORPHA:228390
HP:0001362	Calvarial skull defect	25885	POLR1A	OMIM:616462
HP:0001362	Calvarial skull defect	54567	DLL4	OMIM:616589
HP:0001362	Calvarial skull defect	54567	DLL4	ORPHA:1114
HP:0001362	Calvarial skull defect	54567	DLL4	ORPHA:974
HP:0001362	Calvarial skull defect	7476	WNT7A	ORPHA:2879
HP:0001362	Calvarial skull defect	57514	ARHGAP31	OMIM:100300
HP:0001362	Calvarial skull defect	57514	ARHGAP31	ORPHA:974
HP:0001362	Calvarial skull defect	3930	LBR	ORPHA:1426
HP:0001362	Calvarial skull defect	284252	KCTD1	OMIM:181270
HP:0001362	Calvarial skull defect	197131	UBR1	OMIM:243800
HP:0001362	Calvarial skull defect	10815	CPLX1	ORPHA:280
HP:0001362	Calvarial skull defect	54872	PIGG	ORPHA:280
HP:0001362	Calvarial skull defect	7469	NELFA	ORPHA:280
HP:0001362	Calvarial skull defect	1487	CTBP1	ORPHA:280
HP:0001362	Calvarial skull defect	3954	LETM1	ORPHA:280
HP:0001362	Calvarial skull defect	7468	NSD2	ORPHA:280
HP:0001362	Calvarial skull defect	9790	BMS1	ORPHA:1114
HP:0001362	Calvarial skull defect	5339	PLEC	ORPHA:1114
HP:0001362	Calvarial skull defect	10054	UBA2	ORPHA:1114
HP:0001362	Calvarial skull defect	3691	ITGB4	ORPHA:1114
HP:0001362	Calvarial skull defect	80781	COL18A1	ORPHA:1571
HP:0001362	Calvarial skull defect	5062	PAK2	ORPHA:1571
HP:0001362	Calvarial skull defect	3516	RBPJ	ORPHA:974
HP:0001362	Calvarial skull defect	4851	NOTCH1	ORPHA:974
HP:0001362	Calvarial skull defect	57572	DOCK6	ORPHA:974
HP:0001362	Calvarial skull defect	285203	EOGT	ORPHA:974
HP:0000252	Microcephaly	1718	DHCR24	OMIM:602398
HP:0000252	Microcephaly	1718	DHCR24	ORPHA:35107
HP:0000252	Microcephaly	4524	MTHFR	ORPHA:395
HP:0000252	Microcephaly	4524	MTHFR	OMIM:236250
HP:0000252	Microcephaly	23394	ADNP	ORPHA:404448
HP:0000252	Microcephaly	51399	TRAPPC4	OMIM:618741
HP:0000252	Microcephaly	1139	CHRNA7	ORPHA:199318
HP:0000252	Microcephaly	51569	UFM1	OMIM:617899
HP:0000252	Microcephaly	10059	DNM1L	OMIM:614388
HP:0000252	Microcephaly	6228	RPS23	OMIM:617412
HP:0000252	Microcephaly	7360	UGP2	OMIM:618744
HP:0000252	Microcephaly	5932	RBBP8	OMIM:606744
HP:0000252	Microcephaly	5932	RBBP8	ORPHA:808
HP:0000252	Microcephaly	2073	ERCC5	OMIM:616570
HP:0000252	Microcephaly	2073	ERCC5	ORPHA:1466
HP:0000252	Microcephaly	2073	ERCC5	ORPHA:220295
HP:0000252	Microcephaly	2073	ERCC5	OMIM:278780
HP:0000252	Microcephaly	2073	ERCC5	ORPHA:910
HP:0000252	Microcephaly	283489	CHAMP1	OMIM:616579
HP:0000252	Microcephaly	478	ATP1A3	OMIM:619606
HP:0000252	Microcephaly	478	ATP1A3	ORPHA:442835
HP:0000252	Microcephaly	2137	EXTL3	OMIM:617425
HP:0000252	Microcephaly	2137	EXTL3	ORPHA:508533
HP:0000252	Microcephaly	166378	AFG2A	OMIM:616577
HP:0000252	Microcephaly	166378	AFG2A	ORPHA:457351
HP:0000252	Microcephaly	477	ATP1A2	OMIM:619602
HP:0000252	Microcephaly	477	ATP1A2	ORPHA:442835
HP:0000252	Microcephaly	84197	POMK	OMIM:615249
HP:0000252	Microcephaly	84197	POMK	ORPHA:370959
HP:0000252	Microcephaly	84197	POMK	ORPHA:899
HP:0000252	Microcephaly	9968	MED12	ORPHA:2728
HP:0000252	Microcephaly	84520	GON7	OMIM:619603
HP:0000252	Microcephaly	84520	GON7	ORPHA:2065
HP:0000252	Microcephaly	1161	ERCC8	OMIM:216400
HP:0000252	Microcephaly	79693	YRDC	OMIM:619609
HP:0000252	Microcephaly	79693	YRDC	ORPHA:2065
HP:0000252	Microcephaly	5832	ALDH18A1	OMIM:616586
HP:0000252	Microcephaly	5832	ALDH18A1	ORPHA:90348
HP:0000252	Microcephaly	5832	ALDH18A1	ORPHA:447760
HP:0000252	Microcephaly	5832	ALDH18A1	OMIM:616603
HP:0000252	Microcephaly	6884	TAF13	OMIM:617432
HP:0000252	Microcephaly	6884	TAF13	ORPHA:2512
HP:0000252	Microcephaly	79029	AFG2B	OMIM:619616
HP:0000252	Microcephaly	10111	RAD50	OMIM:613078
HP:0000252	Microcephaly	55681	SCYL2	OMIM:618766
HP:0000252	Microcephaly	85465	SELENOI	OMIM:618768
HP:0000252	Microcephaly	85465	SELENOI	ORPHA:506353
HP:0000252	Microcephaly	5191	PEX7	OMIM:215100
HP:0000252	Microcephaly	3339	HSPG2	ORPHA:1865
HP:0000252	Microcephaly	3339	HSPG2	OMIM:224410
HP:0000252	Microcephaly	3339	HSPG2	ORPHA:800
HP:0000252	Microcephaly	3339	HSPG2	ORPHA:1606
HP:0000252	Microcephaly	171023	ASXL1	ORPHA:97297
HP:0000252	Microcephaly	171023	ASXL1	OMIM:605039
HP:0000252	Microcephaly	5813	PURA	ORPHA:438216
HP:0000252	Microcephaly	89910	UBE3B	ORPHA:2707
HP:0000252	Microcephaly	89910	UBE3B	OMIM:244450
HP:0000252	Microcephaly	4247	MGAT2	OMIM:212066
HP:0000252	Microcephaly	5373	PMM2	OMIM:212065
HP:0000252	Microcephaly	1499	CTNNB1	ORPHA:404473
HP:0000252	Microcephaly	1499	CTNNB1	ORPHA:891
HP:0000252	Microcephaly	55131	RBM28	ORPHA:157954
HP:0000252	Microcephaly	55131	RBM28	OMIM:612079
HP:0000252	Microcephaly	2072	ERCC4	OMIM:615272
HP:0000252	Microcephaly	2072	ERCC4	ORPHA:84
HP:0000252	Microcephaly	2072	ERCC4	ORPHA:220295
HP:0000252	Microcephaly	2072	ERCC4	OMIM:610965
HP:0000252	Microcephaly	2072	ERCC4	ORPHA:910
HP:0000252	Microcephaly	2072	ERCC4	OMIM:278760
HP:0000252	Microcephaly	55768	NGLY1	OMIM:615273
HP:0000252	Microcephaly	55621	TRMT1	OMIM:618302
HP:0000252	Microcephaly	6905	TBCE	OMIM:241410
HP:0000252	Microcephaly	6905	TBCE	ORPHA:2323
HP:0000252	Microcephaly	6905	TBCE	ORPHA:93324
HP:0000252	Microcephaly	51633	OTUD6B	OMIM:617452
HP:0000252	Microcephaly	51633	OTUD6B	ORPHA:505237
HP:0000252	Microcephaly	9289	ADGRG1	ORPHA:101070
HP:0000252	Microcephaly	9289	ADGRG1	ORPHA:98889
HP:0000252	Microcephaly	5728	PTEN	ORPHA:101070
HP:0000252	Microcephaly	5728	PTEN	ORPHA:397596
HP:0000252	Microcephaly	5727	PTCH1	OMIM:610828
HP:0000252	Microcephaly	5727	PTCH1	ORPHA:280195
HP:0000252	Microcephaly	5727	PTCH1	ORPHA:220386
HP:0000252	Microcephaly	5727	PTCH1	ORPHA:280200
HP:0000252	Microcephaly	5727	PTCH1	ORPHA:93926
HP:0000252	Microcephaly	5727	PTCH1	ORPHA:93924
HP:0000252	Microcephaly	5727	PTCH1	ORPHA:93925
HP:0000252	Microcephaly	2736	GLI2	OMIM:610829
HP:0000252	Microcephaly	2736	GLI2	ORPHA:280195
HP:0000252	Microcephaly	2736	GLI2	ORPHA:220386
HP:0000252	Microcephaly	2736	GLI2	ORPHA:280200
HP:0000252	Microcephaly	2736	GLI2	ORPHA:93926
HP:0000252	Microcephaly	2736	GLI2	ORPHA:93924
HP:0000252	Microcephaly	2736	GLI2	ORPHA:93925
HP:0000252	Microcephaly	79718	TBL1XR1	OMIM:602342
HP:0000252	Microcephaly	54828	BCAS3	OMIM:619641
HP:0000252	Microcephaly	6305	SBF1	OMIM:615284
HP:0000252	Microcephaly	3800	KIF5C	OMIM:615282
HP:0000252	Microcephaly	2232	FDXR	ORPHA:543470
HP:0000252	Microcephaly	7358	UGDH	OMIM:618792
HP:0000252	Microcephaly	113179	ADAT3	OMIM:615286
HP:0000252	Microcephaly	113179	ADAT3	ORPHA:363528
HP:0000252	Microcephaly	2904	GRIN2B	OMIM:616139
HP:0000252	Microcephaly	2904	GRIN2B	OMIM:613970
HP:0000252	Microcephaly	200424	TET3	OMIM:618798
HP:0000252	Microcephaly	79971	WLS	OMIM:619648
HP:0000252	Microcephaly	79728	PALB2	OMIM:610832
HP:0000252	Microcephaly	79728	PALB2	ORPHA:84
HP:0000252	Microcephaly	56975	FAM20C	ORPHA:1832
HP:0000252	Microcephaly	56975	FAM20C	OMIM:259775
HP:0000252	Microcephaly	5917	RARS1	OMIM:616140
HP:0000252	Microcephaly	5917	RARS1	ORPHA:438114
HP:0000252	Microcephaly	54916	TMEM260	OMIM:617478
HP:0000252	Microcephaly	25836	NIPBL	OMIM:122470
HP:0000252	Microcephaly	25836	NIPBL	ORPHA:199
HP:0000252	Microcephaly	23499	MACF1	OMIM:618325
HP:0000252	Microcephaly	4733	DRG1	OMIM:620641
HP:0000252	Microcephaly	100151683	RNU4ATAC	ORPHA:1824
HP:0000252	Microcephaly	100151683	RNU4ATAC	ORPHA:353298
HP:0000252	Microcephaly	100151683	RNU4ATAC	OMIM:226960
HP:0000252	Microcephaly	100151683	RNU4ATAC	OMIM:210710
HP:0000252	Microcephaly	100151683	RNU4ATAC	OMIM:616651
HP:0000252	Microcephaly	100151683	RNU4ATAC	ORPHA:2636
HP:0000252	Microcephaly	58497	PRUNE1	OMIM:617481
HP:0000252	Microcephaly	58497	PRUNE1	ORPHA:544469
HP:0000252	Microcephaly	84188	FAR1	OMIM:616154
HP:0000252	Microcephaly	120	ADD3	OMIM:617008
HP:0000252	Microcephaly	5426	POLE	OMIM:618336
HP:0000252	Microcephaly	5910	RAP1GDS1	OMIM:620655
HP:0000252	Microcephaly	7873	MANF	OMIM:620651
HP:0000252	Microcephaly	3480	IGF1R	ORPHA:73273
HP:0000252	Microcephaly	3480	IGF1R	OMIM:270450
HP:0000252	Microcephaly	3479	IGF1	ORPHA:73272
HP:0000252	Microcephaly	3479	IGF1	OMIM:608747
HP:0000252	Microcephaly	2074	ERCC6	OMIM:133540
HP:0000252	Microcephaly	2074	ERCC6	ORPHA:1466
HP:0000252	Microcephaly	2074	ERCC6	OMIM:214150
HP:0000252	Microcephaly	2074	ERCC6	OMIM:278800
HP:0000252	Microcephaly	3155	HMGCL	ORPHA:20
HP:0000252	Microcephaly	3155	HMGCL	OMIM:246450
HP:0000252	Microcephaly	2775	GNAO1	OMIM:617493
HP:0000252	Microcephaly	2775	GNAO1	ORPHA:1934
HP:0000252	Microcephaly	10785	WDR4	OMIM:618346
HP:0000252	Microcephaly	10785	WDR4	OMIM:618347
HP:0000252	Microcephaly	10785	WDR4	ORPHA:2065
HP:0000252	Microcephaly	4598	MVK	ORPHA:29
HP:0000252	Microcephaly	4598	MVK	OMIM:610377
HP:0000252	Microcephaly	23516	SLC39A14	OMIM:617013
HP:0000252	Microcephaly	54517	PUS7	OMIM:618342
HP:0000252	Microcephaly	10564	ARFGEF2	OMIM:608097
HP:0000252	Microcephaly	2495	FTH1	OMIM:620669
HP:0000252	Microcephaly	8573	CASK	OMIM:300749
HP:0000252	Microcephaly	8573	CASK	ORPHA:1934
HP:0000252	Microcephaly	8573	CASK	ORPHA:163937
HP:0000252	Microcephaly	1798	DPAGT1	OMIM:608093
HP:0000252	Microcephaly	1798	DPAGT1	ORPHA:86309
HP:0000252	Microcephaly	57122	NUP107	OMIM:618348
HP:0000252	Microcephaly	57122	NUP107	ORPHA:243
HP:0000252	Microcephaly	57122	NUP107	ORPHA:2065
HP:0000252	Microcephaly	55746	NUP133	OMIM:618349
HP:0000252	Microcephaly	55746	NUP133	ORPHA:2065
HP:0000252	Microcephaly	56623	INPP5E	OMIM:213300
HP:0000252	Microcephaly	56945	MRPS22	OMIM:611719
HP:0000252	Microcephaly	56945	MRPS22	ORPHA:243
HP:0000252	Microcephaly	27125	AFF4	ORPHA:444077
HP:0000252	Microcephaly	27125	AFF4	OMIM:616368
HP:0000252	Microcephaly	5575	PRKAR1B	OMIM:619680
HP:0000252	Microcephaly	10733	PLK4	OMIM:616171
HP:0000252	Microcephaly	10733	PLK4	ORPHA:808
HP:0000252	Microcephaly	10733	PLK4	ORPHA:2518
HP:0000252	Microcephaly	2972	BRF1	ORPHA:444072
HP:0000252	Microcephaly	2972	BRF1	OMIM:616202
HP:0000252	Microcephaly	5515	PPP2CA	OMIM:618354
HP:0000252	Microcephaly	11277	TREX1	OMIM:225750
HP:0000252	Microcephaly	11277	TREX1	ORPHA:51
HP:0000252	Microcephaly	283989	TSEN54	OMIM:225753
HP:0000252	Microcephaly	283989	TSEN54	OMIM:610204
HP:0000252	Microcephaly	283989	TSEN54	OMIM:277470
HP:0000252	Microcephaly	23114	NFASC	OMIM:618356
HP:0000252	Microcephaly	154881	KCTD7	OMIM:611726
HP:0000252	Microcephaly	154881	KCTD7	ORPHA:263516
HP:0000252	Microcephaly	29925	GMPPB	ORPHA:370968
HP:0000252	Microcephaly	29925	GMPPB	ORPHA:370959
HP:0000252	Microcephaly	29925	GMPPB	ORPHA:363623
HP:0000252	Microcephaly	29925	GMPPB	OMIM:615350
HP:0000252	Microcephaly	29925	GMPPB	OMIM:615351
HP:0000252	Microcephaly	29925	GMPPB	OMIM:615352
HP:0000252	Microcephaly	79147	FKRP	ORPHA:370968
HP:0000252	Microcephaly	79147	FKRP	ORPHA:370980
HP:0000252	Microcephaly	79147	FKRP	ORPHA:370959
HP:0000252	Microcephaly	79147	FKRP	OMIM:606612
HP:0000252	Microcephaly	79147	FKRP	OMIM:236670
HP:0000252	Microcephaly	79147	FKRP	ORPHA:899
HP:0000252	Microcephaly	29954	POMT2	ORPHA:370968
HP:0000252	Microcephaly	29954	POMT2	ORPHA:370959
HP:0000252	Microcephaly	29954	POMT2	OMIM:236670
HP:0000252	Microcephaly	29954	POMT2	ORPHA:899
HP:0000252	Microcephaly	29954	POMT2	OMIM:613150
HP:0000252	Microcephaly	29954	POMT2	OMIM:613156
HP:0000252	Microcephaly	9215	LARGE1	ORPHA:370968
HP:0000252	Microcephaly	9215	LARGE1	OMIM:236670
HP:0000252	Microcephaly	9215	LARGE1	ORPHA:899
HP:0000252	Microcephaly	10585	POMT1	ORPHA:370968
HP:0000252	Microcephaly	10585	POMT1	ORPHA:370980
HP:0000252	Microcephaly	10585	POMT1	ORPHA:370959
HP:0000252	Microcephaly	10585	POMT1	OMIM:609308
HP:0000252	Microcephaly	10585	POMT1	OMIM:236670
HP:0000252	Microcephaly	10585	POMT1	ORPHA:899
HP:0000252	Microcephaly	10585	POMT1	ORPHA:86812
HP:0000252	Microcephaly	10585	POMT1	OMIM:613155
HP:0000252	Microcephaly	55777	MBD5	OMIM:156200
HP:0000252	Microcephaly	55777	MBD5	ORPHA:228402
HP:0000252	Microcephaly	347733	TUBB2B	ORPHA:467166
HP:0000252	Microcephaly	347733	TUBB2B	ORPHA:300573
HP:0000252	Microcephaly	347733	TUBB2B	OMIM:610031
HP:0000252	Microcephaly	7846	TUBA1A	ORPHA:467166
HP:0000252	Microcephaly	7846	TUBA1A	OMIM:611603
HP:0000252	Microcephaly	7846	TUBA1A	ORPHA:171680
HP:0000252	Microcephaly	10381	TUBB3	ORPHA:467166
HP:0000252	Microcephaly	10381	TUBB3	OMIM:614039
HP:0000252	Microcephaly	84340	GFM2	ORPHA:565624
HP:0000252	Microcephaly	84340	GFM2	OMIM:618397
HP:0000252	Microcephaly	10588	MTHFS	OMIM:618367
HP:0000252	Microcephaly	22930	RAB3GAP1	OMIM:600118
HP:0000252	Microcephaly	22930	RAB3GAP1	OMIM:619420
HP:0000252	Microcephaly	22930	RAB3GAP1	ORPHA:2510
HP:0000252	Microcephaly	22930	RAB3GAP1	ORPHA:1387
HP:0000252	Microcephaly	2334	AFF2	OMIM:309548
HP:0000252	Microcephaly	92255	LMBRD2	OMIM:619694
HP:0000252	Microcephaly	7468	NSD2	OMIM:619695
HP:0000252	Microcephaly	7468	NSD2	OMIM:194190
HP:0000252	Microcephaly	7468	NSD2	ORPHA:280
HP:0000252	Microcephaly	267010	RNU12	OMIM:620208
HP:0000252	Microcephaly	3054	HCFC1	OMIM:309541
HP:0000252	Microcephaly	201163	FLCN	OMIM:610883
HP:0000252	Microcephaly	2019	EN1	OMIM:619218
HP:0000252	Microcephaly	3183	HNRNPC	OMIM:620688
HP:0000252	Microcephaly	3431	SP110	OMIM:235550
HP:0000252	Microcephaly	3431	SP110	ORPHA:79124
HP:0000252	Microcephaly	51608	GET4	OMIM:620200
HP:0000252	Microcephaly	7703	PCGF2	OMIM:618371
HP:0000252	Microcephaly	23111	SPART	ORPHA:101000
HP:0000252	Microcephaly	27316	RBMX	OMIM:309555
HP:0000252	Microcephaly	6390	SDHB	OMIM:619224
HP:0000252	Microcephaly	11342	RNF13	OMIM:618379
HP:0000252	Microcephaly	11342	RNF13	ORPHA:544503
HP:0000252	Microcephaly	8802	SUCLG1	ORPHA:17
HP:0000252	Microcephaly	4613	MYCN	OMIM:164280
HP:0000252	Microcephaly	4613	MYCN	ORPHA:391641
HP:0000252	Microcephaly	51729	WBP11	OMIM:619227
HP:0000252	Microcephaly	6304	SATB1	OMIM:619228
HP:0000252	Microcephaly	6304	SATB1	OMIM:619229
HP:0000252	Microcephaly	2218	FKTN	ORPHA:370980
HP:0000252	Microcephaly	2218	FKTN	OMIM:236670
HP:0000252	Microcephaly	2218	FKTN	ORPHA:899
HP:0000252	Microcephaly	729920	CRPPA	ORPHA:370980
HP:0000252	Microcephaly	729920	CRPPA	ORPHA:899
HP:0000252	Microcephaly	2697	GJA1	ORPHA:317
HP:0000252	Microcephaly	2697	GJA1	OMIM:164200
HP:0000252	Microcephaly	2707	GJB3	ORPHA:317
HP:0000252	Microcephaly	2531	KDSR	ORPHA:317
HP:0000252	Microcephaly	127534	GJB4	ORPHA:317
HP:0000252	Microcephaly	3028	HSD17B10	ORPHA:391428
HP:0000252	Microcephaly	83480	PUS3	OMIM:617051
HP:0000252	Microcephaly	8943	AP3D1	OMIM:617050
HP:0000252	Microcephaly	9757	KMT2B	ORPHA:589618
HP:0000252	Microcephaly	9757	KMT2B	OMIM:619934
HP:0000252	Microcephaly	9757	KMT2B	OMIM:617284
HP:0000252	Microcephaly	84265	POLR3GL	OMIM:619234
HP:0000252	Microcephaly	134218	DNAJC21	OMIM:617052
HP:0000252	Microcephaly	27107	ZBTB11	OMIM:618383
HP:0000252	Microcephaly	8452	CUL3	OMIM:619239
HP:0000252	Microcephaly	6608	SMO	OMIM:241800
HP:0000252	Microcephaly	55624	POMGNT1	ORPHA:370959
HP:0000252	Microcephaly	55624	POMGNT1	OMIM:253280
HP:0000252	Microcephaly	55624	POMGNT1	ORPHA:899
HP:0000252	Microcephaly	55624	POMGNT1	OMIM:613151
HP:0000252	Microcephaly	51360	MBTPS2	OMIM:308205
HP:0000252	Microcephaly	51360	MBTPS2	ORPHA:85284
HP:0000252	Microcephaly	51360	MBTPS2	ORPHA:2273
HP:0000252	Microcephaly	1457	CSNK2A1	OMIM:617062
HP:0000252	Microcephaly	7204	TRIO	OMIM:617061
HP:0000252	Microcephaly	203068	TUBB	OMIM:156610
HP:0000252	Microcephaly	203068	TUBB	ORPHA:2505
HP:0000252	Microcephaly	55640	FLVCR2	OMIM:225790
HP:0000252	Microcephaly	23112	TNRC6B	OMIM:619243
HP:0000252	Microcephaly	91875	TTC5	OMIM:619244
HP:0000252	Microcephaly	28514	DLL1	ORPHA:280195
HP:0000252	Microcephaly	28514	DLL1	OMIM:618709
HP:0000252	Microcephaly	28514	DLL1	ORPHA:220386
HP:0000252	Microcephaly	28514	DLL1	ORPHA:280200
HP:0000252	Microcephaly	28514	DLL1	ORPHA:93926
HP:0000252	Microcephaly	28514	DLL1	ORPHA:93924
HP:0000252	Microcephaly	28514	DLL1	ORPHA:93925
HP:0000252	Microcephaly	2253	FGF8	ORPHA:280195
HP:0000252	Microcephaly	2253	FGF8	ORPHA:220386
HP:0000252	Microcephaly	2253	FGF8	ORPHA:280200
HP:0000252	Microcephaly	2253	FGF8	ORPHA:93926
HP:0000252	Microcephaly	2253	FGF8	ORPHA:93924
HP:0000252	Microcephaly	2253	FGF8	ORPHA:93925
HP:0000252	Microcephaly	6496	SIX3	ORPHA:280195
HP:0000252	Microcephaly	6496	SIX3	ORPHA:220386
HP:0000252	Microcephaly	6496	SIX3	OMIM:157170
HP:0000252	Microcephaly	6496	SIX3	ORPHA:280200
HP:0000252	Microcephaly	6496	SIX3	ORPHA:93926
HP:0000252	Microcephaly	6496	SIX3	ORPHA:93924
HP:0000252	Microcephaly	6496	SIX3	ORPHA:93925
HP:0000252	Microcephaly	7050	TGIF1	ORPHA:280195
HP:0000252	Microcephaly	7050	TGIF1	OMIM:142946
HP:0000252	Microcephaly	7050	TGIF1	ORPHA:220386
HP:0000252	Microcephaly	7050	TGIF1	ORPHA:280200
HP:0000252	Microcephaly	7050	TGIF1	ORPHA:93926
HP:0000252	Microcephaly	7050	TGIF1	ORPHA:93924
HP:0000252	Microcephaly	7050	TGIF1	ORPHA:93925
HP:0000252	Microcephaly	4838	NODAL	ORPHA:280195
HP:0000252	Microcephaly	4838	NODAL	ORPHA:220386
HP:0000252	Microcephaly	4838	NODAL	ORPHA:280200
HP:0000252	Microcephaly	4838	NODAL	ORPHA:93926
HP:0000252	Microcephaly	4838	NODAL	ORPHA:93924
HP:0000252	Microcephaly	4838	NODAL	ORPHA:93925
HP:0000252	Microcephaly	6469	SHH	ORPHA:280195
HP:0000252	Microcephaly	6469	SHH	OMIM:142945
HP:0000252	Microcephaly	6469	SHH	ORPHA:220386
HP:0000252	Microcephaly	6469	SHH	ORPHA:280200
HP:0000252	Microcephaly	6469	SHH	OMIM:147250
HP:0000252	Microcephaly	6469	SHH	ORPHA:93926
HP:0000252	Microcephaly	6469	SHH	ORPHA:93924
HP:0000252	Microcephaly	6469	SHH	ORPHA:93925
HP:0000252	Microcephaly	7546	ZIC2	ORPHA:280195
HP:0000252	Microcephaly	7546	ZIC2	ORPHA:220386
HP:0000252	Microcephaly	7546	ZIC2	ORPHA:280200
HP:0000252	Microcephaly	7546	ZIC2	ORPHA:93926
HP:0000252	Microcephaly	7546	ZIC2	ORPHA:93924
HP:0000252	Microcephaly	7546	ZIC2	ORPHA:93925
HP:0000252	Microcephaly	7546	ZIC2	OMIM:609637
HP:0000252	Microcephaly	6491	STIL	ORPHA:280195
HP:0000252	Microcephaly	6491	STIL	ORPHA:220386
HP:0000252	Microcephaly	6491	STIL	ORPHA:93926
HP:0000252	Microcephaly	6491	STIL	ORPHA:93924
HP:0000252	Microcephaly	6491	STIL	ORPHA:93925
HP:0000252	Microcephaly	6491	STIL	ORPHA:2512
HP:0000252	Microcephaly	2619	GAS1	ORPHA:280195
HP:0000252	Microcephaly	2619	GAS1	ORPHA:220386
HP:0000252	Microcephaly	2619	GAS1	ORPHA:280200
HP:0000252	Microcephaly	2619	GAS1	ORPHA:93926
HP:0000252	Microcephaly	2619	GAS1	ORPHA:93924
HP:0000252	Microcephaly	2619	GAS1	ORPHA:93925
HP:0000252	Microcephaly	84976	DISP1	ORPHA:280195
HP:0000252	Microcephaly	84976	DISP1	ORPHA:220386
HP:0000252	Microcephaly	84976	DISP1	ORPHA:280200
HP:0000252	Microcephaly	84976	DISP1	ORPHA:93926
HP:0000252	Microcephaly	84976	DISP1	ORPHA:93924
HP:0000252	Microcephaly	84976	DISP1	ORPHA:93925
HP:0000252	Microcephaly	8928	FOXH1	ORPHA:280195
HP:0000252	Microcephaly	8928	FOXH1	ORPHA:220386
HP:0000252	Microcephaly	8928	FOXH1	ORPHA:280200
HP:0000252	Microcephaly	8928	FOXH1	ORPHA:93926
HP:0000252	Microcephaly	8928	FOXH1	ORPHA:93924
HP:0000252	Microcephaly	8928	FOXH1	ORPHA:93925
HP:0000252	Microcephaly	6997	CRIPTO	ORPHA:280195
HP:0000252	Microcephaly	6997	CRIPTO	ORPHA:220386
HP:0000252	Microcephaly	6997	CRIPTO	ORPHA:280200
HP:0000252	Microcephaly	6997	CRIPTO	ORPHA:93926
HP:0000252	Microcephaly	6997	CRIPTO	ORPHA:93924
HP:0000252	Microcephaly	6997	CRIPTO	ORPHA:93925
HP:0000252	Microcephaly	50937	CDON	ORPHA:280195
HP:0000252	Microcephaly	50937	CDON	ORPHA:220386
HP:0000252	Microcephaly	50937	CDON	ORPHA:280200
HP:0000252	Microcephaly	50937	CDON	OMIM:614226
HP:0000252	Microcephaly	50937	CDON	ORPHA:93926
HP:0000252	Microcephaly	50937	CDON	ORPHA:93924
HP:0000252	Microcephaly	50937	CDON	ORPHA:93925
HP:0000252	Microcephaly	8450	CUL4B	ORPHA:85293
HP:0000252	Microcephaly	55717	WDR11	OMIM:620237
HP:0000252	Microcephaly	93587	TRMT10A	ORPHA:391408
HP:0000252	Microcephaly	93587	TRMT10A	OMIM:616033
HP:0000252	Microcephaly	84919	PPP1R15B	ORPHA:391408
HP:0000252	Microcephaly	84919	PPP1R15B	OMIM:616817
HP:0000252	Microcephaly	201595	STT3B	ORPHA:370924
HP:0000252	Microcephaly	201595	STT3B	OMIM:615597
HP:0000252	Microcephaly	10436	EMG1	OMIM:211180
HP:0000252	Microcephaly	10436	EMG1	ORPHA:1270
HP:0000252	Microcephaly	6748	SSR4	ORPHA:370927
HP:0000252	Microcephaly	6748	SSR4	OMIM:300934
HP:0000252	Microcephaly	10084	PQBP1	OMIM:309500
HP:0000252	Microcephaly	10084	PQBP1	ORPHA:93950
HP:0000252	Microcephaly	10084	PQBP1	ORPHA:93946
HP:0000252	Microcephaly	10084	PQBP1	ORPHA:93947
HP:0000252	Microcephaly	10479	SLC9A6	ORPHA:85278
HP:0000252	Microcephaly	10479	SLC9A6	OMIM:300243
HP:0000252	Microcephaly	8242	KDM5C	ORPHA:85279
HP:0000252	Microcephaly	8242	KDM5C	OMIM:300534
HP:0000252	Microcephaly	1315	COPB1	OMIM:619255
HP:0000252	Microcephaly	89970	RSPRY1	ORPHA:457395
HP:0000252	Microcephaly	89970	RSPRY1	OMIM:616723
HP:0000252	Microcephaly	8831	SYNGAP1	OMIM:612621
HP:0000252	Microcephaly	8831	SYNGAP1	ORPHA:442835
HP:0000252	Microcephaly	8831	SYNGAP1	ORPHA:1942
HP:0000252	Microcephaly	8831	SYNGAP1	ORPHA:544254
HP:0000252	Microcephaly	54187	NANS	OMIM:610442
HP:0000252	Microcephaly	84464	SLX4	OMIM:613951
HP:0000252	Microcephaly	84464	SLX4	ORPHA:84
HP:0000252	Microcephaly	284058	KANSL1	OMIM:610443
HP:0000252	Microcephaly	284058	KANSL1	ORPHA:363958
HP:0000252	Microcephaly	284058	KANSL1	ORPHA:363965
HP:0000252	Microcephaly	1968	EIF2S3	ORPHA:85282
HP:0000252	Microcephaly	1968	EIF2S3	OMIM:300148
HP:0000252	Microcephaly	81615	TMEM163	OMIM:620243
HP:0000252	Microcephaly	64131	XYLT1	ORPHA:370930
HP:0000252	Microcephaly	64131	XYLT1	OMIM:615777
HP:0000252	Microcephaly	2801	GOLGA2	OMIM:620240
HP:0000252	Microcephaly	116150	NUS1	OMIM:617082
HP:0000252	Microcephaly	116150	NUS1	ORPHA:442835
HP:0000252	Microcephaly	55181	SMG8	OMIM:619268
HP:0000252	Microcephaly	25886	POC1A	OMIM:614813
HP:0000252	Microcephaly	3516	RBPJ	OMIM:614814
HP:0000252	Microcephaly	5138	PDE2A	OMIM:619150
HP:0000252	Microcephaly	128	ADH5	OMIM:619151
HP:0000252	Microcephaly	64374	SIL1	OMIM:248800
HP:0000252	Microcephaly	64374	SIL1	ORPHA:559
HP:0000252	Microcephaly	6535	SLC6A8	OMIM:300352
HP:0000252	Microcephaly	6535	SLC6A8	ORPHA:52503
HP:0000252	Microcephaly	26960	NBEA	OMIM:619157
HP:0000252	Microcephaly	6309	SC5D	ORPHA:46059
HP:0000252	Microcephaly	6309	SC5D	OMIM:607330
HP:0000252	Microcephaly	26128	KIFBP	OMIM:609460
HP:0000252	Microcephaly	26128	KIFBP	ORPHA:66629
HP:0000252	Microcephaly	5885	RAD21	OMIM:614701
HP:0000252	Microcephaly	5885	RAD21	ORPHA:502
HP:0000252	Microcephaly	5885	RAD21	ORPHA:199
HP:0000252	Microcephaly	781	CACNA2D1	OMIM:620149
HP:0000252	Microcephaly	781	CACNA2D1	ORPHA:442835
HP:0000252	Microcephaly	7518	XRCC4	ORPHA:99812
HP:0000252	Microcephaly	7518	XRCC4	OMIM:616541
HP:0000252	Microcephaly	3981	LIG4	ORPHA:99812
HP:0000252	Microcephaly	3981	LIG4	ORPHA:235
HP:0000252	Microcephaly	3981	LIG4	OMIM:606593
HP:0000252	Microcephaly	80144	FRAS1	OMIM:219000
HP:0000252	Microcephaly	80144	FRAS1	ORPHA:2052
HP:0000252	Microcephaly	10093	ARPC4	OMIM:620141
HP:0000252	Microcephaly	4784	NFIX	ORPHA:447980
HP:0000252	Microcephaly	613	BCR	ORPHA:261330
HP:0000252	Microcephaly	1399	CRKL	ORPHA:261330
HP:0000252	Microcephaly	5594	MAPK1	ORPHA:261330
HP:0000252	Microcephaly	5594	MAPK1	OMIM:619087
HP:0000252	Microcephaly	9640	ZNF592	ORPHA:83472
HP:0000252	Microcephaly	84942	WDR73	ORPHA:83472
HP:0000252	Microcephaly	84942	WDR73	ORPHA:2065
HP:0000252	Microcephaly	84942	WDR73	OMIM:251300
HP:0000252	Microcephaly	224	ALDH3A2	ORPHA:816
HP:0000252	Microcephaly	2314	FLII	ORPHA:819
HP:0000252	Microcephaly	23096	IQSEC2	ORPHA:819
HP:0000252	Microcephaly	10743	RAI1	ORPHA:819
HP:0000252	Microcephaly	10743	RAI1	ORPHA:1713
HP:0000252	Microcephaly	10522	DEAF1	ORPHA:819
HP:0000252	Microcephaly	10522	DEAF1	ORPHA:468620
HP:0000252	Microcephaly	1717	DHCR7	ORPHA:818
HP:0000252	Microcephaly	1717	DHCR7	OMIM:270400
HP:0000252	Microcephaly	29072	SETD2	OMIM:620157
HP:0000252	Microcephaly	29072	SETD2	OMIM:620155
HP:0000252	Microcephaly	150468	CKAP2L	ORPHA:3255
HP:0000252	Microcephaly	150468	CKAP2L	OMIM:272440
HP:0000252	Microcephaly	3242	HPD	OMIM:140350
HP:0000252	Microcephaly	9382	COG1	OMIM:611209
HP:0000252	Microcephaly	338657	CENATAC	OMIM:620153
HP:0000252	Microcephaly	25778	DSTYK	OMIM:270750
HP:0000252	Microcephaly	25839	COG4	ORPHA:263501
HP:0000252	Microcephaly	25839	COG4	OMIM:613489
HP:0000252	Microcephaly	25839	COG4	ORPHA:85172
HP:0000252	Microcephaly	56992	KIF15	ORPHA:261323
HP:0000252	Microcephaly	56992	KIF15	OMIM:619981
HP:0000252	Microcephaly	4718	NDUFC2	OMIM:619170
HP:0000252	Microcephaly	1738	DLD	ORPHA:2394
HP:0000252	Microcephaly	1738	DLD	OMIM:246900
HP:0000252	Microcephaly	4001	LMNB1	OMIM:619179
HP:0000252	Microcephaly	4001	LMNB1	ORPHA:2514
HP:0000252	Microcephaly	92579	G6PC3	OMIM:612541
HP:0000252	Microcephaly	93627	TBCK	OMIM:616900
HP:0000252	Microcephaly	93627	TBCK	ORPHA:488632
HP:0000252	Microcephaly	672	BRCA1	ORPHA:84
HP:0000252	Microcephaly	672	BRCA1	OMIM:617883
HP:0000252	Microcephaly	10459	MAD2L2	ORPHA:84
HP:0000252	Microcephaly	10459	MAD2L2	OMIM:617243
HP:0000252	Microcephaly	7516	XRCC2	ORPHA:84
HP:0000252	Microcephaly	7516	XRCC2	OMIM:617247
HP:0000252	Microcephaly	29089	UBE2T	ORPHA:84
HP:0000252	Microcephaly	675	BRCA2	ORPHA:84
HP:0000252	Microcephaly	675	BRCA2	OMIM:605724
HP:0000252	Microcephaly	55120	FANCL	ORPHA:84
HP:0000252	Microcephaly	2177	FANCD2	ORPHA:84
HP:0000252	Microcephaly	2177	FANCD2	OMIM:227646
HP:0000252	Microcephaly	2175	FANCA	ORPHA:84
HP:0000252	Microcephaly	2175	FANCA	OMIM:227650
HP:0000252	Microcephaly	2187	FANCB	ORPHA:84
HP:0000252	Microcephaly	2176	FANCC	ORPHA:84
HP:0000252	Microcephaly	2176	FANCC	OMIM:227645
HP:0000252	Microcephaly	2178	FANCE	ORPHA:84
HP:0000252	Microcephaly	2178	FANCE	OMIM:600901
HP:0000252	Microcephaly	2188	FANCF	ORPHA:84
HP:0000252	Microcephaly	2188	FANCF	OMIM:603467
HP:0000252	Microcephaly	2189	FANCG	ORPHA:84
HP:0000252	Microcephaly	2189	FANCG	OMIM:614082
HP:0000252	Microcephaly	5888	RAD51	ORPHA:84
HP:0000252	Microcephaly	5888	RAD51	OMIM:617244
HP:0000252	Microcephaly	5889	RAD51C	ORPHA:84
HP:0000252	Microcephaly	55159	RFWD3	ORPHA:84
HP:0000252	Microcephaly	55159	RFWD3	OMIM:617784
HP:0000252	Microcephaly	83990	BRIP1	ORPHA:84
HP:0000252	Microcephaly	57697	FANCM	ORPHA:84
HP:0000252	Microcephaly	55215	FANCI	ORPHA:84
HP:0000252	Microcephaly	55215	FANCI	OMIM:609053
HP:0000252	Microcephaly	546	ATRX	ORPHA:847
HP:0000252	Microcephaly	546	ATRX	OMIM:309580
HP:0000252	Microcephaly	546	ATRX	OMIM:301040
HP:0000252	Microcephaly	222663	SCUBE3	OMIM:619184
HP:0000252	Microcephaly	10367	MICU1	ORPHA:401768
HP:0000252	Microcephaly	10367	MICU1	OMIM:615673
HP:0000252	Microcephaly	9184	BUB3	ORPHA:1052
HP:0000252	Microcephaly	699	BUB1	ORPHA:1052
HP:0000252	Microcephaly	9702	CEP57	ORPHA:1052
HP:0000252	Microcephaly	9702	CEP57	OMIM:614114
HP:0000252	Microcephaly	9319	TRIP13	ORPHA:1052
HP:0000252	Microcephaly	9319	TRIP13	OMIM:617598
HP:0000252	Microcephaly	701	BUB1B	ORPHA:1052
HP:0000252	Microcephaly	701	BUB1B	OMIM:257300
HP:0000252	Microcephaly	23036	ZNF292	OMIM:619188
HP:0000252	Microcephaly	23545	ATP6V0A2	OMIM:278250
HP:0000252	Microcephaly	23545	ATP6V0A2	OMIM:219200
HP:0000252	Microcephaly	11284	PNKP	OMIM:613402
HP:0000252	Microcephaly	11284	PNKP	ORPHA:1934
HP:0000252	Microcephaly	79867	TCTN2	OMIM:613885
HP:0000252	Microcephaly	79867	TCTN2	ORPHA:564
HP:0000252	Microcephaly	63894	VIPAS39	OMIM:613404
HP:0000252	Microcephaly	83879	CDCA7	OMIM:616910
HP:0000252	Microcephaly	25942	SIN3A	OMIM:613406
HP:0000252	Microcephaly	25942	SIN3A	ORPHA:94065
HP:0000252	Microcephaly	10815	CPLX1	OMIM:194190
HP:0000252	Microcephaly	10815	CPLX1	ORPHA:280
HP:0000252	Microcephaly	1487	CTBP1	OMIM:194190
HP:0000252	Microcephaly	1487	CTBP1	ORPHA:280
HP:0000252	Microcephaly	53834	FGFRL1	OMIM:194190
HP:0000252	Microcephaly	3954	LETM1	OMIM:194190
HP:0000252	Microcephaly	3954	LETM1	ORPHA:280
HP:0000252	Microcephaly	84947	SERAC1	OMIM:614739
HP:0000252	Microcephaly	54084	TSPEAR	OMIM:620173
HP:0000252	Microcephaly	5447	POR	OMIM:201750
HP:0000252	Microcephaly	56006	SMG9	OMIM:616920
HP:0000252	Microcephaly	91754	NEK9	ORPHA:64754
HP:0000252	Microcephaly	84720	PIGO	OMIM:614749
HP:0000252	Microcephaly	23345	SYNE1	ORPHA:319332
HP:0000252	Microcephaly	3675	ITGA3	OMIM:614748
HP:0000252	Microcephaly	8379	MAD1L1	OMIM:620189
HP:0000252	Microcephaly	5649	RELN	OMIM:257320
HP:0000252	Microcephaly	23137	SMC5	OMIM:620185
HP:0000252	Microcephaly	55343	SLC35C1	OMIM:266265
HP:0000252	Microcephaly	55343	SLC35C1	ORPHA:99843
HP:0000252	Microcephaly	79759	ZNF668	OMIM:620194
HP:0000252	Microcephaly	1737	DLAT	OMIM:245348
HP:0000252	Microcephaly	1737	DLAT	ORPHA:79244
HP:0000252	Microcephaly	8050	PDHX	OMIM:245349
HP:0000252	Microcephaly	8050	PDHX	ORPHA:255182
HP:0000252	Microcephaly	23522	KAT6B	ORPHA:85201
HP:0000252	Microcephaly	23522	KAT6B	OMIM:606170
HP:0000252	Microcephaly	23522	KAT6B	OMIM:603736
HP:0000252	Microcephaly	23522	KAT6B	ORPHA:3047
HP:0000252	Microcephaly	6605	SMARCE1	OMIM:616938
HP:0000252	Microcephaly	6605	SMARCE1	ORPHA:1465
HP:0000252	Microcephaly	388015	RTL1	ORPHA:96334
HP:0000252	Microcephaly	8788	DLK1	ORPHA:96334
HP:0000252	Microcephaly	55384	MEG3	ORPHA:96334
HP:0000252	Microcephaly	158	ADSL	ORPHA:46
HP:0000252	Microcephaly	158	ADSL	OMIM:103050
HP:0000252	Microcephaly	415	ARSL	OMIM:302950
HP:0000252	Microcephaly	81887	LAS1L	OMIM:309585
HP:0000252	Microcephaly	545	ATR	ORPHA:808
HP:0000252	Microcephaly	545	ATR	OMIM:210600
HP:0000252	Microcephaly	1062	CENPE	ORPHA:808
HP:0000252	Microcephaly	1062	CENPE	OMIM:616051
HP:0000252	Microcephaly	1062	CENPE	ORPHA:2512
HP:0000252	Microcephaly	5116	PCNT	ORPHA:808
HP:0000252	Microcephaly	5116	PCNT	OMIM:210720
HP:0000252	Microcephaly	5116	PCNT	ORPHA:2637
HP:0000252	Microcephaly	79902	NUP85	ORPHA:808
HP:0000252	Microcephaly	84126	ATRIP	ORPHA:808
HP:0000252	Microcephaly	10293	TRAIP	ORPHA:808
HP:0000252	Microcephaly	10293	TRAIP	OMIM:616777
HP:0000252	Microcephaly	1763	DNA2	ORPHA:808
HP:0000252	Microcephaly	1763	DNA2	OMIM:620819
HP:0000252	Microcephaly	1763	DNA2	OMIM:615807
HP:0000252	Microcephaly	22995	CEP152	ORPHA:808
HP:0000252	Microcephaly	22995	CEP152	OMIM:613823
HP:0000252	Microcephaly	22995	CEP152	ORPHA:2512
HP:0000252	Microcephaly	22995	CEP152	OMIM:614852
HP:0000252	Microcephaly	2961	GTF2E2	OMIM:616943
HP:0000252	Microcephaly	2961	GTF2E2	ORPHA:33364
HP:0000252	Microcephaly	51567	TDP2	OMIM:616949
HP:0000252	Microcephaly	6567	SLC16A2	ORPHA:59
HP:0000252	Microcephaly	6567	SLC16A2	OMIM:300523
HP:0000252	Microcephaly	9276	COPB2	OMIM:617800
HP:0000252	Microcephaly	9276	COPB2	OMIM:619884
HP:0000252	Microcephaly	9276	COPB2	ORPHA:2512
HP:0000252	Microcephaly	3897	L1CAM	ORPHA:1497
HP:0000252	Microcephaly	3897	L1CAM	OMIM:304100
HP:0000252	Microcephaly	3897	L1CAM	OMIM:303350
HP:0000252	Microcephaly	22907	DHX30	OMIM:617804
HP:0000252	Microcephaly	9990	SLC12A6	ORPHA:1496
HP:0000252	Microcephaly	7407	VARS1	OMIM:617802
HP:0000252	Microcephaly	9894	TELO2	OMIM:616954
HP:0000252	Microcephaly	9230	RAB11B	OMIM:617807
HP:0000252	Microcephaly	10535	RNASEH2A	ORPHA:51
HP:0000252	Microcephaly	84153	RNASEH2C	ORPHA:51
HP:0000252	Microcephaly	25939	SAMHD1	ORPHA:51
HP:0000252	Microcephaly	25939	SAMHD1	OMIM:612952
HP:0000252	Microcephaly	79621	RNASEH2B	ORPHA:51
HP:0000252	Microcephaly	79621	RNASEH2B	OMIM:610181
HP:0000252	Microcephaly	103	ADAR	ORPHA:51
HP:0000252	Microcephaly	103	ADAR	OMIM:615010
HP:0000252	Microcephaly	100147744	RNU7-1	ORPHA:51
HP:0000252	Microcephaly	100147744	RNU7-1	OMIM:619487
HP:0000252	Microcephaly	134353	LSM11	ORPHA:51
HP:0000252	Microcephaly	64135	IFIH1	ORPHA:51
HP:0000252	Microcephaly	64135	IFIH1	OMIM:615846
HP:0000252	Microcephaly	56052	ALG1	OMIM:608540
HP:0000252	Microcephaly	10075	HUWE1	OMIM:309590
HP:0000252	Microcephaly	60529	ALX4	OMIM:613451
HP:0000252	Microcephaly	29123	ANKRD11	ORPHA:2332
HP:0000252	Microcephaly	29123	ANKRD11	OMIM:148050
HP:0000252	Microcephaly	9759	HDAC4	ORPHA:1001
HP:0000252	Microcephaly	473	RERE	OMIM:616975
HP:0000252	Microcephaly	473	RERE	ORPHA:1606
HP:0000252	Microcephaly	1806	DPYD	OMIM:274270
HP:0000252	Microcephaly	1806	DPYD	ORPHA:1675
HP:0000252	Microcephaly	8085	KMT2D	ORPHA:2322
HP:0000252	Microcephaly	8085	KMT2D	OMIM:147920
HP:0000252	Microcephaly	7403	KDM6A	ORPHA:2322
HP:0000252	Microcephaly	7403	KDM6A	OMIM:300867
HP:0000252	Microcephaly	7403	KDM6A	OMIM:147920
HP:0000252	Microcephaly	3097	HIVEP2	OMIM:616977
HP:0000252	Microcephaly	54820	NDE1	OMIM:605013
HP:0000252	Microcephaly	9837	GINS1	OMIM:617827
HP:0000252	Microcephaly	79840	NHEJ1	ORPHA:169079
HP:0000252	Microcephaly	55906	ZC4H2	OMIM:314580
HP:0000252	Microcephaly	55906	ZC4H2	OMIM:301041
HP:0000252	Microcephaly	2068	ERCC2	ORPHA:1466
HP:0000252	Microcephaly	2068	ERCC2	ORPHA:33364
HP:0000252	Microcephaly	2068	ERCC2	OMIM:610756
HP:0000252	Microcephaly	2068	ERCC2	ORPHA:220295
HP:0000252	Microcephaly	2068	ERCC2	OMIM:601675
HP:0000252	Microcephaly	2068	ERCC2	ORPHA:910
HP:0000252	Microcephaly	2068	ERCC2	OMIM:278730
HP:0000252	Microcephaly	2067	ERCC1	ORPHA:1466
HP:0000252	Microcephaly	2067	ERCC1	OMIM:610758
HP:0000252	Microcephaly	6597	SMARCA4	ORPHA:1465
HP:0000252	Microcephaly	6597	SMARCA4	OMIM:614609
HP:0000252	Microcephaly	6598	SMARCB1	ORPHA:1465
HP:0000252	Microcephaly	6598	SMARCB1	OMIM:614608
HP:0000252	Microcephaly	6659	SOX4	ORPHA:1465
HP:0000252	Microcephaly	6659	SOX4	OMIM:618506
HP:0000252	Microcephaly	8289	ARID1A	ORPHA:1465
HP:0000252	Microcephaly	8289	ARID1A	OMIM:614607
HP:0000252	Microcephaly	5977	DPF2	ORPHA:1465
HP:0000252	Microcephaly	6601	SMARCC2	ORPHA:1465
HP:0000252	Microcephaly	6602	SMARCD1	ORPHA:1465
HP:0000252	Microcephaly	57492	ARID1B	ORPHA:1465
HP:0000252	Microcephaly	57492	ARID1B	ORPHA:251056
HP:0000252	Microcephaly	57492	ARID1B	OMIM:135900
HP:0000252	Microcephaly	196528	ARID2	ORPHA:1465
HP:0000252	Microcephaly	6664	SOX11	ORPHA:1465
HP:0000252	Microcephaly	6664	SOX11	OMIM:615866
HP:0000252	Microcephaly	6709	SPTAN1	OMIM:613477
HP:0000252	Microcephaly	6709	SPTAN1	OMIM:620538
HP:0000252	Microcephaly	6709	SPTAN1	OMIM:620540
HP:0000252	Microcephaly	51741	WWOX	OMIM:614322
HP:0000252	Microcephaly	51741	WWOX	ORPHA:442835
HP:0000252	Microcephaly	51741	WWOX	OMIM:616211
HP:0000252	Microcephaly	4358	MPV17	OMIM:256810
HP:0000252	Microcephaly	134701	RIPPLY2	ORPHA:2311
HP:0000252	Microcephaly	10683	DLL3	ORPHA:2311
HP:0000252	Microcephaly	3955	LFNG	ORPHA:2311
HP:0000252	Microcephaly	84667	HES7	ORPHA:2311
HP:0000252	Microcephaly	145873	MESP2	ORPHA:2311
HP:0000252	Microcephaly	157570	ESCO2	ORPHA:2319
HP:0000252	Microcephaly	157570	ESCO2	OMIM:268300
HP:0000252	Microcephaly	157570	ESCO2	OMIM:216100
HP:0000252	Microcephaly	157570	ESCO2	ORPHA:3103
HP:0000252	Microcephaly	197131	UBR1	ORPHA:2315
HP:0000252	Microcephaly	197131	UBR1	OMIM:243800
HP:0000252	Microcephaly	6792	CDKL5	ORPHA:505652
HP:0000252	Microcephaly	6792	CDKL5	ORPHA:1934
HP:0000252	Microcephaly	5723	PSPH	ORPHA:79350
HP:0000252	Microcephaly	5723	PSPH	OMIM:614023
HP:0000252	Microcephaly	26227	PHGDH	ORPHA:79351
HP:0000252	Microcephaly	6638	SNRPN	ORPHA:177907
HP:0000252	Microcephaly	64840	PORCN	OMIM:305600
HP:0000252	Microcephaly	55180	LINS1	OMIM:614340
HP:0000252	Microcephaly	80152	CENPT	OMIM:618702
HP:0000252	Microcephaly	6697	SPR	ORPHA:70594
HP:0000252	Microcephaly	6697	SPR	OMIM:612716
HP:0000252	Microcephaly	6134	RPL10	ORPHA:435938
HP:0000252	Microcephaly	6134	RPL10	OMIM:300998
HP:0000252	Microcephaly	6134	RPL10	ORPHA:459070
HP:0000252	Microcephaly	953	ENTPD1	OMIM:615683
HP:0000252	Microcephaly	953	ENTPD1	ORPHA:401810
HP:0000252	Microcephaly	2893	GRIA4	OMIM:617864
HP:0000252	Microcephaly	84628	NTNG2	OMIM:618718
HP:0000252	Microcephaly	55691	FRMD4A	ORPHA:466688
HP:0000252	Microcephaly	54802	TRIT1	OMIM:617873
HP:0000252	Microcephaly	55733	HHAT	ORPHA:1422
HP:0000252	Microcephaly	55733	HHAT	OMIM:600092
HP:0000252	Microcephaly	4724	NDUFS4	OMIM:252010
HP:0000252	Microcephaly	4724	NDUFS4	ORPHA:2609
HP:0000252	Microcephaly	2260	FGFR1	ORPHA:220386
HP:0000252	Microcephaly	2260	FGFR1	ORPHA:280200
HP:0000252	Microcephaly	2260	FGFR1	OMIM:190440
HP:0000252	Microcephaly	2260	FGFR1	ORPHA:93924
HP:0000252	Microcephaly	2260	FGFR1	OMIM:615465
HP:0000252	Microcephaly	10735	STAG2	ORPHA:220386
HP:0000252	Microcephaly	10735	STAG2	ORPHA:93925
HP:0000252	Microcephaly	10735	STAG2	OMIM:301043
HP:0000252	Microcephaly	10735	STAG2	OMIM:301022
HP:0000252	Microcephaly	8243	SMC1A	ORPHA:220386
HP:0000252	Microcephaly	8243	SMC1A	OMIM:300590
HP:0000252	Microcephaly	8243	SMC1A	OMIM:301044
HP:0000252	Microcephaly	8243	SMC1A	ORPHA:199
HP:0000252	Microcephaly	84700	MYO18B	OMIM:616549
HP:0000252	Microcephaly	8777	MPDZ	OMIM:615219
HP:0000252	Microcephaly	1788	DNMT3A	OMIM:618724
HP:0000252	Microcephaly	8086	AAAS	OMIM:231550
HP:0000252	Microcephaly	8086	AAAS	ORPHA:869
HP:0000252	Microcephaly	26123	TCTN3	ORPHA:2753
HP:0000252	Microcephaly	26123	TCTN3	ORPHA:564
HP:0000252	Microcephaly	2182	ACSL4	OMIM:300387
HP:0000252	Microcephaly	51075	TMX2	OMIM:618730
HP:0000252	Microcephaly	57647	DHX37	OMIM:618731
HP:0000252	Microcephaly	65057	ACD	OMIM:616553
HP:0000252	Microcephaly	65057	ACD	ORPHA:3322
HP:0000252	Microcephaly	64221	ROBO3	ORPHA:2744
HP:0000252	Microcephaly	1630	DCC	ORPHA:2744
HP:0000252	Microcephaly	7545	ZIC1	OMIM:618736
HP:0000252	Microcephaly	7545	ZIC1	OMIM:616602
HP:0000252	Microcephaly	51763	INPP5K	OMIM:617404
HP:0000252	Microcephaly	4281	MID1	ORPHA:2745
HP:0000252	Microcephaly	4281	MID1	OMIM:300000
HP:0000252	Microcephaly	246329	STAC3	OMIM:255995
HP:0000252	Microcephaly	8367	H4C5	OMIM:619950
HP:0000252	Microcephaly	3703	STT3A	OMIM:615596
HP:0000252	Microcephaly	3703	STT3A	OMIM:619714
HP:0000252	Microcephaly	3703	STT3A	ORPHA:370921
HP:0000252	Microcephaly	6873	TAF2	OMIM:615599
HP:0000252	Microcephaly	1947	EFNB1	ORPHA:1520
HP:0000252	Microcephaly	1355	COX15	OMIM:615119
HP:0000252	Microcephaly	55627	SMPD4	OMIM:618622
HP:0000252	Microcephaly	81857	MED25	OMIM:616449
HP:0000252	Microcephaly	81857	MED25	ORPHA:464738
HP:0000252	Microcephaly	5361	PLXNA1	OMIM:619955
HP:0000252	Microcephaly	4047	LSS	ORPHA:2850
HP:0000252	Microcephaly	4047	LSS	OMIM:618840
HP:0000252	Microcephaly	197	AHSG	ORPHA:2850
HP:0000252	Microcephaly	3694	ITGB6	ORPHA:2850
HP:0000252	Microcephaly	3190	HNRNPK	ORPHA:453504
HP:0000252	Microcephaly	3190	HNRNPK	ORPHA:352665
HP:0000252	Microcephaly	6536	SLC6A9	OMIM:617301
HP:0000252	Microcephaly	2782	GNB1	ORPHA:488613
HP:0000252	Microcephaly	65082	VPS33A	OMIM:617303
HP:0000252	Microcephaly	10730	YME1L1	OMIM:617302
HP:0000252	Microcephaly	28960	DCPS	OMIM:616459
HP:0000252	Microcephaly	51684	SUFU	ORPHA:280200
HP:0000252	Microcephaly	10559	SLC35A1	OMIM:603585
HP:0000252	Microcephaly	80153	EDC3	OMIM:616460
HP:0000252	Microcephaly	55870	ASH1L	OMIM:617796
HP:0000252	Microcephaly	25885	POLR1A	OMIM:616462
HP:0000252	Microcephaly	91869	RFT1	ORPHA:244310
HP:0000252	Microcephaly	91869	RFT1	OMIM:612015
HP:0000252	Microcephaly	816	CAMK2B	OMIM:617799
HP:0000252	Microcephaly	815	CAMK2A	OMIM:617798
HP:0000252	Microcephaly	9326	ZNHIT3	ORPHA:2836
HP:0000252	Microcephaly	5155	PDGFB	ORPHA:1980
HP:0000252	Microcephaly	9213	XPR1	ORPHA:1980
HP:0000252	Microcephaly	5159	PDGFRB	ORPHA:1980
HP:0000252	Microcephaly	57462	MYORG	ORPHA:1980
HP:0000252	Microcephaly	6575	SLC20A2	ORPHA:1980
HP:0000252	Microcephaly	58494	JAM2	ORPHA:1980
HP:0000252	Microcephaly	23184	MESD	OMIM:618644
HP:0000252	Microcephaly	55109	AGGF1	ORPHA:90308
HP:0000252	Microcephaly	5290	PIK3CA	ORPHA:90308
HP:0000252	Microcephaly	2626	GATA4	ORPHA:251071
HP:0000252	Microcephaly	652	BMP4	OMIM:607932
HP:0000252	Microcephaly	652	BMP4	ORPHA:139471
HP:0000252	Microcephaly	54872	PIGG	ORPHA:280
HP:0000252	Microcephaly	7469	NELFA	ORPHA:280
HP:0000252	Microcephaly	1656	DDX6	OMIM:618653
HP:0000252	Microcephaly	1501	CTNND2	ORPHA:281
HP:0000252	Microcephaly	9037	SEMA5A	ORPHA:281
HP:0000252	Microcephaly	26057	ANKRD17	OMIM:619504
HP:0000252	Microcephaly	3737	KCNA2	ORPHA:442835
HP:0000252	Microcephaly	1759	DNM1	ORPHA:442835
HP:0000252	Microcephaly	8120	AP3B2	ORPHA:442835
HP:0000252	Microcephaly	8120	AP3B2	OMIM:617276
HP:0000252	Microcephaly	523	ATP6V1A	ORPHA:442835
HP:0000252	Microcephaly	523	ATP6V1A	OMIM:618012
HP:0000252	Microcephaly	10991	SLC38A3	ORPHA:442835
HP:0000252	Microcephaly	10991	SLC38A3	OMIM:619881
HP:0000252	Microcephaly	51343	FZR1	ORPHA:442835
HP:0000252	Microcephaly	3747	KCNC2	ORPHA:442835
HP:0000252	Microcephaly	1917	EEF1A2	ORPHA:442835
HP:0000252	Microcephaly	1917	EEF1A2	OMIM:616393
HP:0000252	Microcephaly	23219	FBXO28	ORPHA:442835
HP:0000252	Microcephaly	2561	GABRB2	ORPHA:442835
HP:0000252	Microcephaly	2558	GABRA5	ORPHA:442835
HP:0000252	Microcephaly	2906	GRIN2D	ORPHA:442835
HP:0000252	Microcephaly	2906	GRIN2D	OMIM:617162
HP:0000252	Microcephaly	1213	CLTC	ORPHA:442835
HP:0000252	Microcephaly	23334	SZT2	ORPHA:442835
HP:0000252	Microcephaly	348980	HCN1	ORPHA:442835
HP:0000252	Microcephaly	348980	HCN1	OMIM:618482
HP:0000252	Microcephaly	25977	NECAP1	ORPHA:442835
HP:0000252	Microcephaly	23241	PACS2	ORPHA:442835
HP:0000252	Microcephaly	16	AARS1	ORPHA:442835
HP:0000252	Microcephaly	16	AARS1	ORPHA:33364
HP:0000252	Microcephaly	16	AARS1	OMIM:616339
HP:0000252	Microcephaly	6334	SCN8A	ORPHA:442835
HP:0000252	Microcephaly	6334	SCN8A	OMIM:614558
HP:0000252	Microcephaly	9568	GABBR2	ORPHA:442835
HP:0000252	Microcephaly	9568	GABBR2	OMIM:617903
HP:0000252	Microcephaly	2555	GABRA2	ORPHA:442835
HP:0000252	Microcephaly	2555	GABRA2	OMIM:618557
HP:0000252	Microcephaly	55152	DALRD3	ORPHA:442835
HP:0000252	Microcephaly	55152	DALRD3	OMIM:618910
HP:0000252	Microcephaly	26999	CYFIP2	ORPHA:442835
HP:0000252	Microcephaly	26999	CYFIP2	OMIM:618008
HP:0000252	Microcephaly	4915	NTRK2	ORPHA:442835
HP:0000252	Microcephaly	25973	PARS2	ORPHA:442835
HP:0000252	Microcephaly	23097	CDK19	ORPHA:442835
HP:0000252	Microcephaly	2257	FGF12	ORPHA:442835
HP:0000252	Microcephaly	5530	PPP3CA	ORPHA:442835
HP:0000252	Microcephaly	22906	TRAK1	ORPHA:442835
HP:0000252	Microcephaly	22906	TRAK1	OMIM:618201
HP:0000252	Microcephaly	2566	GABRG2	ORPHA:442835
HP:0000252	Microcephaly	7532	YWHAG	ORPHA:442835
HP:0000252	Microcephaly	79876	UBA5	ORPHA:442835
HP:0000252	Microcephaly	6328	SCN3A	ORPHA:442835
HP:0000252	Microcephaly	6328	SCN3A	OMIM:617935
HP:0000252	Microcephaly	6328	SCN3A	OMIM:617938
HP:0000252	Microcephaly	10659	CELF2	ORPHA:442835
HP:0000252	Microcephaly	774	CACNA1B	ORPHA:442835
HP:0000252	Microcephaly	51412	ACTL6B	ORPHA:442835
HP:0000252	Microcephaly	51412	ACTL6B	OMIM:618468
HP:0000252	Microcephaly	51412	ACTL6B	OMIM:618470
HP:0000252	Microcephaly	2290	FOXG1	ORPHA:442835
HP:0000252	Microcephaly	2290	FOXG1	ORPHA:261144
HP:0000252	Microcephaly	6506	SLC1A2	ORPHA:442835
HP:0000252	Microcephaly	6506	SLC1A2	OMIM:617105
HP:0000252	Microcephaly	8867	SYNJ1	ORPHA:442835
HP:0000252	Microcephaly	3745	KCNB1	ORPHA:442835
HP:0000252	Microcephaly	284111	SLC13A5	ORPHA:442835
HP:0000252	Microcephaly	284111	SLC13A5	OMIM:615905
HP:0000252	Microcephaly	22866	CNKSR2	ORPHA:442835
HP:0000252	Microcephaly	773	CACNA1A	ORPHA:442835
HP:0000252	Microcephaly	6323	SCN1A	ORPHA:442835
HP:0000252	Microcephaly	6323	SCN1A	ORPHA:1942
HP:0000252	Microcephaly	6323	SCN1A	ORPHA:293181
HP:0000252	Microcephaly	79947	DHDDS	ORPHA:442835
HP:0000252	Microcephaly	55623	THUMPD1	OMIM:619989
HP:0000252	Microcephaly	57167	SALL4	ORPHA:233
HP:0000252	Microcephaly	9935	MAFB	ORPHA:233
HP:0000252	Microcephaly	1123	CHN1	ORPHA:233
HP:0000252	Microcephaly	54888	NSUN2	ORPHA:235
HP:0000252	Microcephaly	54888	NSUN2	OMIM:611091
HP:0000252	Microcephaly	253738	EBF3	OMIM:617330
HP:0000252	Microcephaly	253738	EBF3	ORPHA:96148
HP:0000252	Microcephaly	1182	CLCN3	OMIM:619512
HP:0000252	Microcephaly	1182	CLCN3	OMIM:619517
HP:0000252	Microcephaly	29081	METTL5	OMIM:618665
HP:0000252	Microcephaly	29081	METTL5	ORPHA:2512
HP:0000252	Microcephaly	84879	MFSD2A	OMIM:616486
HP:0000252	Microcephaly	84879	MFSD2A	ORPHA:2512
HP:0000252	Microcephaly	7862	BRPF1	OMIM:617333
HP:0000252	Microcephaly	1660	DHX9	OMIM:620988
HP:0000252	Microcephaly	286	ANK1	ORPHA:251066
HP:0000252	Microcephaly	5860	QDPR	ORPHA:226
HP:0000252	Microcephaly	5860	QDPR	OMIM:261630
HP:0000252	Microcephaly	7385	UQCRC2	OMIM:615160
HP:0000252	Microcephaly	7750	ZMYM2	OMIM:619522
HP:0000252	Microcephaly	6621	SNAPC4	OMIM:620515
HP:0000252	Microcephaly	57466	SCAF4	OMIM:620511
HP:0000252	Microcephaly	57104	PNPLA2	OMIM:610717
HP:0000252	Microcephaly	9922	IQSEC1	OMIM:618687
HP:0000252	Microcephaly	85365	ALG2	OMIM:607906
HP:0000252	Microcephaly	85365	ALG2	ORPHA:79326
HP:0000252	Microcephaly	57479	PRR12	OMIM:619539
HP:0000252	Microcephaly	2006	ELN	ORPHA:90348
HP:0000252	Microcephaly	2006	ELN	ORPHA:904
HP:0000252	Microcephaly	10516	FBLN5	ORPHA:90348
HP:0000252	Microcephaly	10516	FBLN5	OMIM:219100
HP:0000252	Microcephaly	404672	GTF2H5	ORPHA:33364
HP:0000252	Microcephaly	833	CARS1	ORPHA:33364
HP:0000252	Microcephaly	833	CARS1	OMIM:618891
HP:0000252	Microcephaly	7737	RNF113A	ORPHA:33364
HP:0000252	Microcephaly	7737	RNF113A	OMIM:300953
HP:0000252	Microcephaly	136647	MPLKIP	ORPHA:33364
HP:0000252	Microcephaly	136647	MPLKIP	OMIM:234050
HP:0000252	Microcephaly	6897	TARS1	ORPHA:33364
HP:0000252	Microcephaly	2071	ERCC3	ORPHA:33364
HP:0000252	Microcephaly	2071	ERCC3	ORPHA:220295
HP:0000252	Microcephaly	2071	ERCC3	OMIM:610651
HP:0000252	Microcephaly	2071	ERCC3	ORPHA:910
HP:0000252	Microcephaly	6513	SLC2A1	ORPHA:1942
HP:0000252	Microcephaly	6513	SLC2A1	ORPHA:168577
HP:0000252	Microcephaly	6513	SLC2A1	OMIM:608885
HP:0000252	Microcephaly	1173	AP2M1	ORPHA:1942
HP:0000252	Microcephaly	340533	NEXMIF	ORPHA:1942
HP:0000252	Microcephaly	1106	CHD2	ORPHA:1942
HP:0000252	Microcephaly	6529	SLC6A1	ORPHA:1942
HP:0000252	Microcephaly	9896	FIG4	OMIM:216340
HP:0000252	Microcephaly	9896	FIG4	ORPHA:208441
HP:0000252	Microcephaly	29893	PSMC3IP	ORPHA:243
HP:0000252	Microcephaly	171568	POLR3H	ORPHA:243
HP:0000252	Microcephaly	2516	NR5A1	ORPHA:243
HP:0000252	Microcephaly	125150	ZSWIM7	ORPHA:243
HP:0000252	Microcephaly	9210	BMP15	ORPHA:243
HP:0000252	Microcephaly	23514	SPIDR	ORPHA:243
HP:0000252	Microcephaly	2492	FSHR	ORPHA:243
HP:0000252	Microcephaly	646	BNC1	ORPHA:243
HP:0000252	Microcephaly	4438	MSH4	ORPHA:243
HP:0000252	Microcephaly	6595	SMARCA2	OMIM:601358
HP:0000252	Microcephaly	6595	SMARCA2	ORPHA:3051
HP:0000252	Microcephaly	6576	SLC25A1	OMIM:615182
HP:0000252	Microcephaly	8621	CDK13	OMIM:617360
HP:0000252	Microcephaly	133686	NADK2	OMIM:616034
HP:0000252	Microcephaly	133686	NADK2	ORPHA:431361
HP:0000252	Microcephaly	5587	PRKD1	OMIM:617364
HP:0000252	Microcephaly	29968	PSAT1	OMIM:616038
HP:0000252	Microcephaly	11338	U2AF2	OMIM:620535
HP:0000252	Microcephaly	8905	AP1S2	OMIM:304340
HP:0000252	Microcephaly	8905	AP1S2	ORPHA:85329
HP:0000252	Microcephaly	3736	KCNA1	ORPHA:1934
HP:0000252	Microcephaly	9091	PIGQ	ORPHA:1934
HP:0000252	Microcephaly	140679	SLC32A1	ORPHA:1934
HP:0000252	Microcephaly	81603	TRIM8	ORPHA:1934
HP:0000252	Microcephaly	81603	TRIM8	OMIM:619428
HP:0000252	Microcephaly	2902	GRIN1	ORPHA:1934
HP:0000252	Microcephaly	2902	GRIN1	OMIM:614254
HP:0000252	Microcephaly	2902	GRIN1	OMIM:619814
HP:0000252	Microcephaly	2902	GRIN1	ORPHA:208447
HP:0000252	Microcephaly	79751	SLC25A22	ORPHA:1934
HP:0000252	Microcephaly	79751	SLC25A22	ORPHA:293181
HP:0000252	Microcephaly	150094	SIK1	ORPHA:1934
HP:0000252	Microcephaly	23312	DMXL2	ORPHA:1934
HP:0000252	Microcephaly	2917	GRM7	ORPHA:1934
HP:0000252	Microcephaly	2917	GRM7	OMIM:618922
HP:0000252	Microcephaly	170302	ARX	ORPHA:1934
HP:0000252	Microcephaly	170302	ARX	OMIM:308350
HP:0000252	Microcephaly	170302	ARX	OMIM:300004
HP:0000252	Microcephaly	170302	ARX	ORPHA:2508
HP:0000252	Microcephaly	170302	ARX	ORPHA:452
HP:0000252	Microcephaly	6326	SCN2A	ORPHA:1934
HP:0000252	Microcephaly	6326	SCN2A	ORPHA:293181
HP:0000252	Microcephaly	51227	PIGP	ORPHA:1934
HP:0000252	Microcephaly	51227	PIGP	OMIM:617599
HP:0000252	Microcephaly	6324	SCN1B	ORPHA:1934
HP:0000252	Microcephaly	4761	NEUROD2	ORPHA:1934
HP:0000252	Microcephaly	8803	SUCLA2	ORPHA:1933
HP:0000252	Microcephaly	54808	DYM	ORPHA:239
HP:0000252	Microcephaly	54808	DYM	OMIM:223800
HP:0000252	Microcephaly	54808	DYM	OMIM:607326
HP:0000252	Microcephaly	51750	RTEL1	OMIM:615190
HP:0000252	Microcephaly	51750	RTEL1	ORPHA:3322
HP:0000252	Microcephaly	10466	COG5	ORPHA:263487
HP:0000252	Microcephaly	10466	COG5	OMIM:613612
HP:0000252	Microcephaly	30000	TNPO2	OMIM:619556
HP:0000252	Microcephaly	498	ATP5F1A	OMIM:616045
HP:0000252	Microcephaly	498	ATP5F1A	ORPHA:254913
HP:0000252	Microcephaly	23314	SATB2	ORPHA:251028
HP:0000252	Microcephaly	23314	SATB2	ORPHA:251019
HP:0000252	Microcephaly	23314	SATB2	OMIM:612313
HP:0000252	Microcephaly	4719	NDUFS1	OMIM:618226
HP:0000252	Microcephaly	4719	NDUFS1	ORPHA:2609
HP:0000252	Microcephaly	83548	COG3	OMIM:620546
HP:0000252	Microcephaly	4729	NDUFV2	OMIM:618229
HP:0000252	Microcephaly	4729	NDUFV2	ORPHA:2609
HP:0000252	Microcephaly	7443	VRK1	OMIM:620542
HP:0000252	Microcephaly	7443	VRK1	OMIM:607596
HP:0000252	Microcephaly	2627	GATA6	OMIM:600001
HP:0000252	Microcephaly	55869	HDAC8	OMIM:300882
HP:0000252	Microcephaly	55869	HDAC8	ORPHA:199
HP:0000252	Microcephaly	1349	COX7B	OMIM:300887
HP:0000252	Microcephaly	1349	COX7B	ORPHA:2556
HP:0000252	Microcephaly	1349	COX7B	OMIM:309801
HP:0000252	Microcephaly	4695	NDUFA2	OMIM:618235
HP:0000252	Microcephaly	79868	ALG13	OMIM:300884
HP:0000252	Microcephaly	9342	SNAP29	ORPHA:66631
HP:0000252	Microcephaly	9179	AP4M1	OMIM:612936
HP:0000252	Microcephaly	9179	AP4M1	ORPHA:280763
HP:0000252	Microcephaly	9126	SMC3	OMIM:610759
HP:0000252	Microcephaly	9126	SMC3	ORPHA:199
HP:0000252	Microcephaly	3192	HNRNPU	OMIM:617391
HP:0000252	Microcephaly	3192	HNRNPU	ORPHA:238769
HP:0000252	Microcephaly	56915	EXOSC5	OMIM:619576
HP:0000252	Microcephaly	8260	NAA10	OMIM:300855
HP:0000252	Microcephaly	8260	NAA10	ORPHA:568
HP:0000252	Microcephaly	8260	NAA10	OMIM:309800
HP:0000252	Microcephaly	11274	USP18	OMIM:617397
HP:0000252	Microcephaly	340665	CYP26C1	ORPHA:398189
HP:0000252	Microcephaly	5831	PYCR1	OMIM:612940
HP:0000252	Microcephaly	23476	BRD4	OMIM:620568
HP:0000252	Microcephaly	23476	BRD4	ORPHA:199
HP:0000252	Microcephaly	92344	GORAB	OMIM:231070
HP:0000252	Microcephaly	6898	TAT	ORPHA:28378
HP:0000252	Microcephaly	2898	GRIK2	OMIM:619580
HP:0000252	Microcephaly	80324	PUS1	OMIM:600462
HP:0000252	Microcephaly	80324	PUS1	ORPHA:2598
HP:0000252	Microcephaly	9496	TBX4	ORPHA:261279
HP:0000252	Microcephaly	10524	KAT5	OMIM:619103
HP:0000252	Microcephaly	9451	EIF2AK3	OMIM:226980
HP:0000252	Microcephaly	9451	EIF2AK3	ORPHA:1667
HP:0000252	Microcephaly	5277	PIGA	OMIM:300868
HP:0000252	Microcephaly	5277	PIGA	ORPHA:293181
HP:0000252	Microcephaly	5277	PIGA	OMIM:301072
HP:0000252	Microcephaly	8635	RNASET2	OMIM:612951
HP:0000252	Microcephaly	5000	ORC4	OMIM:613800
HP:0000252	Microcephaly	5000	ORC4	ORPHA:2554
HP:0000252	Microcephaly	4990	SIX6	OMIM:206900
HP:0000252	Microcephaly	6657	SOX2	OMIM:206900
HP:0000252	Microcephaly	81620	CDT1	OMIM:613804
HP:0000252	Microcephaly	81620	CDT1	ORPHA:2554
HP:0000252	Microcephaly	23594	ORC6	OMIM:613803
HP:0000252	Microcephaly	23594	ORC6	ORPHA:2554
HP:0000252	Microcephaly	990	CDC6	OMIM:613805
HP:0000252	Microcephaly	990	CDC6	ORPHA:2554
HP:0000252	Microcephaly	50814	NSDHL	OMIM:300831
HP:0000252	Microcephaly	50814	NSDHL	ORPHA:251383
HP:0000252	Microcephaly	57003	CCDC47	OMIM:618268
HP:0000252	Microcephaly	10847	SRCAP	OMIM:619595
HP:0000252	Microcephaly	55526	DHTKD1	OMIM:204750
HP:0000252	Microcephaly	1528	CYB5A	ORPHA:621
HP:0000252	Microcephaly	1727	CYB5R3	ORPHA:621
HP:0000252	Microcephaly	1727	CYB5R3	OMIM:250800
HP:0000252	Microcephaly	526	ATP6V1B2	ORPHA:79500
HP:0000252	Microcephaly	57465	TBC1D24	ORPHA:79500
HP:0000252	Microcephaly	57465	TBC1D24	ORPHA:293181
HP:0000252	Microcephaly	57465	TBC1D24	ORPHA:352596
HP:0000252	Microcephaly	57465	TBC1D24	OMIM:220500
HP:0000252	Microcephaly	57465	TBC1D24	OMIM:615338
HP:0000252	Microcephaly	90522	YIF1B	OMIM:619125
HP:0000252	Microcephaly	55755	CDK5RAP2	OMIM:604804
HP:0000252	Microcephaly	55755	CDK5RAP2	ORPHA:2512
HP:0000252	Microcephaly	6472	SHMT2	OMIM:619121
HP:0000252	Microcephaly	90416	CCDC32	OMIM:619123
HP:0000252	Microcephaly	23287	AGTPBP1	OMIM:618276
HP:0000252	Microcephaly	9895	TECPR2	ORPHA:320385
HP:0000252	Microcephaly	9895	TECPR2	OMIM:615031
HP:0000252	Microcephaly	3739	KCNA4	OMIM:618284
HP:0000252	Microcephaly	55835	CPAP	OMIM:608393
HP:0000252	Microcephaly	55835	CPAP	OMIM:613676
HP:0000252	Microcephaly	8481	OFD1	OMIM:300804
HP:0000252	Microcephaly	8481	OFD1	OMIM:311200
HP:0000252	Microcephaly	4683	NBN	ORPHA:647
HP:0000252	Microcephaly	4683	NBN	OMIM:251260
HP:0000252	Microcephaly	4693	NDP	ORPHA:649
HP:0000252	Microcephaly	4693	NDP	ORPHA:891
HP:0000252	Microcephaly	3735	KARS1	OMIM:619147
HP:0000252	Microcephaly	8665	EIF3F	OMIM:618295
HP:0000252	Microcephaly	221692	PHACTR1	OMIM:618298
HP:0000252	Microcephaly	8517	IKBKG	OMIM:308300
HP:0000252	Microcephaly	11198	SUPT16H	ORPHA:261229
HP:0000252	Microcephaly	57680	CHD8	ORPHA:261229
HP:0000252	Microcephaly	10134	BCAP31	OMIM:300475
HP:0000252	Microcephaly	10134	BCAP31	ORPHA:369939
HP:0000252	Microcephaly	3763	KCNJ6	ORPHA:435628
HP:0000252	Microcephaly	3763	KCNJ6	OMIM:614098
HP:0000252	Microcephaly	341640	FREM2	ORPHA:2052
HP:0000252	Microcephaly	23426	GRIP1	ORPHA:2052
HP:0000252	Microcephaly	10262	SF3B4	OMIM:154400
HP:0000252	Microcephaly	8506	CNTNAP1	OMIM:618186
HP:0000252	Microcephaly	145173	B3GLCT	ORPHA:709
HP:0000252	Microcephaly	145173	B3GLCT	OMIM:261540
HP:0000252	Microcephaly	7109	TRAPPC10	OMIM:620027
HP:0000252	Microcephaly	7109	TRAPPC10	ORPHA:2512
HP:0000252	Microcephaly	55325	UFSP2	OMIM:620028
HP:0000252	Microcephaly	57468	SLC12A5	ORPHA:293181
HP:0000252	Microcephaly	23236	PLCB1	ORPHA:293181
HP:0000252	Microcephaly	3785	KCNQ2	ORPHA:293181
HP:0000252	Microcephaly	57582	KCNT1	ORPHA:293181
HP:0000252	Microcephaly	57582	KCNT1	OMIM:614959
HP:0000252	Microcephaly	10274	STAG1	ORPHA:502434
HP:0000252	Microcephaly	10274	STAG1	OMIM:617635
HP:0000252	Microcephaly	1119	CHKA	OMIM:620023
HP:0000252	Microcephaly	8496	PPFIBP1	OMIM:620024
HP:0000252	Microcephaly	5111	PCNA	OMIM:615919
HP:0000252	Microcephaly	5111	PCNA	ORPHA:438134
HP:0000252	Microcephaly	2629	GBA1	OMIM:608013
HP:0000252	Microcephaly	57176	VARS2	OMIM:615917
HP:0000252	Microcephaly	1636	ACE	OMIM:267430
HP:0000252	Microcephaly	183	AGT	OMIM:267430
HP:0000252	Microcephaly	185	AGTR1	OMIM:267430
HP:0000252	Microcephaly	5972	REN	OMIM:267430
HP:0000252	Microcephaly	54968	TMEM70	ORPHA:1194
HP:0000252	Microcephaly	55163	PNPO	ORPHA:79096
HP:0000252	Microcephaly	5689	PSMB1	OMIM:620038
HP:0000252	Microcephaly	23431	AP4E1	OMIM:613744
HP:0000252	Microcephaly	23431	AP4E1	ORPHA:280763
HP:0000252	Microcephaly	25782	RAB3GAP2	OMIM:212720
HP:0000252	Microcephaly	25782	RAB3GAP2	OMIM:614225
HP:0000252	Microcephaly	25782	RAB3GAP2	ORPHA:2510
HP:0000252	Microcephaly	25782	RAB3GAP2	ORPHA:1387
HP:0000252	Microcephaly	10472	ZBTB18	ORPHA:36367
HP:0000252	Microcephaly	10472	ZBTB18	OMIM:612337
HP:0000252	Microcephaly	63908	NAPB	OMIM:620033
HP:0000252	Microcephaly	7298	TYMS	OMIM:620040
HP:0000252	Microcephaly	1351	COX8A	OMIM:619059
HP:0000252	Microcephaly	4509	MT-ATP8	ORPHA:254913
HP:0000252	Microcephaly	514	ATP5F1E	ORPHA:254913
HP:0000252	Microcephaly	513	ATP5F1D	ORPHA:254913
HP:0000252	Microcephaly	4508	MT-ATP6	ORPHA:254913
HP:0000252	Microcephaly	84833	ATP5MK	ORPHA:254913
HP:0000252	Microcephaly	91647	ATPAF2	ORPHA:254913
HP:0000252	Microcephaly	91647	ATPAF2	OMIM:604273
HP:0000252	Microcephaly	100131801	PET100	OMIM:619055
HP:0000252	Microcephaly	10908	PNPLA6	ORPHA:3363
HP:0000252	Microcephaly	5428	POLG	ORPHA:726
HP:0000252	Microcephaly	7080	NKX2-1	ORPHA:209905
HP:0000252	Microcephaly	259232	NALCN	ORPHA:562528
HP:0000252	Microcephaly	259232	NALCN	OMIM:615419
HP:0000252	Microcephaly	259232	NALCN	ORPHA:371364
HP:0000252	Microcephaly	4212	MEIS2	OMIM:600987
HP:0000252	Microcephaly	4212	MEIS2	ORPHA:261190
HP:0000252	Microcephaly	26053	AUTS2	ORPHA:352490
HP:0000252	Microcephaly	26053	AUTS2	OMIM:615834
HP:0000252	Microcephaly	79813	EHMT1	OMIM:610253
HP:0000252	Microcephaly	79813	EHMT1	ORPHA:261652
HP:0000252	Microcephaly	79813	EHMT1	ORPHA:96147
HP:0000252	Microcephaly	26005	C2CD3	OMIM:615948
HP:0000252	Microcephaly	26005	C2CD3	ORPHA:434179
HP:0000252	Microcephaly	10382	TUBB4A	OMIM:612438
HP:0000252	Microcephaly	23265	EXOC7	OMIM:619072
HP:0000252	Microcephaly	1802	DPH2	OMIM:620062
HP:0000252	Microcephaly	443	ASPA	OMIM:271900
HP:0000252	Microcephaly	149371	EXOC8	OMIM:619076
HP:0000252	Microcephaly	285175	UNC80	OMIM:616801
HP:0000252	Microcephaly	285175	UNC80	ORPHA:371364
HP:0000252	Microcephaly	83475	DOHH	OMIM:620066
HP:0000252	Microcephaly	92667	MGME1	ORPHA:352447
HP:0000252	Microcephaly	92667	MGME1	OMIM:615084
HP:0000252	Microcephaly	55027	HEATR3	OMIM:620072
HP:0000252	Microcephaly	55027	HEATR3	ORPHA:124
HP:0000252	Microcephaly	5700	PSMC1	OMIM:620071
HP:0000252	Microcephaly	58508	KMT2C	ORPHA:261652
HP:0000252	Microcephaly	58508	KMT2C	OMIM:617768
HP:0000252	Microcephaly	4089	SMAD4	OMIM:139210
HP:0000252	Microcephaly	1654	DDX3X	ORPHA:3338
HP:0000252	Microcephaly	1654	DDX3X	OMIM:300958
HP:0000252	Microcephaly	1654	DDX3X	ORPHA:457260
HP:0000252	Microcephaly	5591	PRKDC	OMIM:615966
HP:0000252	Microcephaly	25828	TXN2	OMIM:616811
HP:0000252	Microcephaly	3187	HNRNPH1	OMIM:620083
HP:0000252	Microcephaly	63895	PIEZO2	OMIM:248700
HP:0000252	Microcephaly	63895	PIEZO2	ORPHA:2461
HP:0000252	Microcephaly	22880	MORC2	OMIM:619090
HP:0000252	Microcephaly	22880	MORC2	ORPHA:466768
HP:0000252	Microcephaly	4677	NARS1	OMIM:619091
HP:0000252	Microcephaly	4677	NARS1	OMIM:619092
HP:0000252	Microcephaly	7355	SLC35A2	OMIM:300896
HP:0000252	Microcephaly	7355	SLC35A2	ORPHA:356961
HP:0000252	Microcephaly	80184	CEP290	OMIM:611134
HP:0000252	Microcephaly	80184	CEP290	ORPHA:564
HP:0000252	Microcephaly	5073	PARN	ORPHA:3322
HP:0000252	Microcephaly	5073	PARN	OMIM:616353
HP:0000252	Microcephaly	7015	TERT	ORPHA:3322
HP:0000252	Microcephaly	7015	TERT	OMIM:613989
HP:0000252	Microcephaly	26277	TINF2	ORPHA:3322
HP:0000252	Microcephaly	26277	TINF2	OMIM:268130
HP:0000252	Microcephaly	26277	TINF2	OMIM:613990
HP:0000252	Microcephaly	1736	DKC1	ORPHA:3322
HP:0000252	Microcephaly	1736	DKC1	OMIM:305000
HP:0000252	Microcephaly	92154	MTSS2	OMIM:620086
HP:0000252	Microcephaly	197322	ACSF3	ORPHA:289504
HP:0000252	Microcephaly	63925	ZNF335	ORPHA:329228
HP:0000252	Microcephaly	2703	GJA8	OMIM:612474
HP:0000252	Microcephaly	2702	GJA5	OMIM:612474
HP:0000252	Microcephaly	55690	PACS1	ORPHA:329224
HP:0000252	Microcephaly	51053	GMNN	OMIM:616835
HP:0000252	Microcephaly	51053	GMNN	ORPHA:2554
HP:0000252	Microcephaly	10664	CTCF	OMIM:615502
HP:0000252	Microcephaly	10664	CTCF	ORPHA:363611
HP:0000252	Microcephaly	6307	MSMO1	OMIM:616834
HP:0000252	Microcephaly	2200	FBN1	ORPHA:2462
HP:0000252	Microcephaly	6497	SKI	ORPHA:2462
HP:0000252	Microcephaly	6497	SKI	ORPHA:1606
HP:0000252	Microcephaly	6497	SKI	OMIM:182212
HP:0000252	Microcephaly	1828	DSG1	OMIM:615508
HP:0000252	Microcephaly	3720	JARID2	OMIM:620098
HP:0000252	Microcephaly	579	NKX3-2	OMIM:613330
HP:0000252	Microcephaly	85358	SHANK3	OMIM:606232
HP:0000252	Microcephaly	549	AUH	ORPHA:67046
HP:0000252	Microcephaly	55784	MCTP2	ORPHA:1596
HP:0000252	Microcephaly	6301	SARS1	OMIM:617709
HP:0000252	Microcephaly	6301	SARS1	ORPHA:2512
HP:0000252	Microcephaly	55997	CFC1	OMIM:605376
HP:0000252	Microcephaly	26224	FBXL3	OMIM:606220
HP:0000252	Microcephaly	4204	MECP2	OMIM:300055
HP:0000252	Microcephaly	4204	MECP2	ORPHA:209370
HP:0000252	Microcephaly	4204	MECP2	OMIM:300260
HP:0000252	Microcephaly	5925	RB1	ORPHA:1587
HP:0000252	Microcephaly	27315	PGAP2	OMIM:614207
HP:0000252	Microcephaly	83987	CCDC8	OMIM:614205
HP:0000252	Microcephaly	84342	COG8	OMIM:611182
HP:0000252	Microcephaly	80185	TTI2	OMIM:615541
HP:0000252	Microcephaly	80185	TTI2	ORPHA:391307
HP:0000252	Microcephaly	128989	TANGO2	OMIM:616878
HP:0000252	Microcephaly	128989	TANGO2	ORPHA:480864
HP:0000252	Microcephaly	55644	OSGEP	OMIM:617729
HP:0000252	Microcephaly	55644	OSGEP	ORPHA:2065
HP:0000252	Microcephaly	57572	DOCK6	OMIM:614219
HP:0000252	Microcephaly	2464	FRA16E	OMIM:136570
HP:0000252	Microcephaly	22931	RAB18	OMIM:614222
HP:0000252	Microcephaly	22931	RAB18	ORPHA:2510
HP:0000252	Microcephaly	23443	SLC35A3	OMIM:615553
HP:0000252	Microcephaly	6925	TCF4	ORPHA:2896
HP:0000252	Microcephaly	6925	TCF4	OMIM:610954
HP:0000252	Microcephaly	202018	TAPT1	OMIM:616897
HP:0000252	Microcephaly	54805	CNNM2	OMIM:616418
HP:0000252	Microcephaly	6591	SNAI2	ORPHA:2884
HP:0000252	Microcephaly	3815	KIT	ORPHA:2884
HP:0000252	Microcephaly	3756	KCNH1	ORPHA:420561
HP:0000252	Microcephaly	1376	CPT2	OMIM:608836
HP:0000252	Microcephaly	10717	AP4B1	ORPHA:280763
HP:0000252	Microcephaly	10717	AP4B1	OMIM:614066
HP:0000252	Microcephaly	11154	AP4S1	ORPHA:280763
HP:0000252	Microcephaly	11154	AP4S1	OMIM:614067
HP:0000252	Microcephaly	9320	TRIP12	OMIM:617752
HP:0000252	Microcephaly	5879	RAC1	OMIM:617751
HP:0000252	Microcephaly	5879	RAC1	ORPHA:500159
HP:0000252	Microcephaly	440	ASNS	OMIM:615574
HP:0000252	Microcephaly	1663	DDX11	OMIM:613398
HP:0000252	Microcephaly	2186	BPTF	OMIM:617755
HP:0000252	Microcephaly	738	VPS51	OMIM:618606
HP:0000252	Microcephaly	9439	MED23	OMIM:614249
HP:0000252	Microcephaly	5430	POLR2A	OMIM:618603
HP:0000252	Microcephaly	22827	PUF60	OMIM:615583
HP:0000252	Microcephaly	22827	PUF60	ORPHA:508498
HP:0000252	Microcephaly	547	KIF1A	OMIM:614255
HP:0000252	Microcephaly	26235	FBXL4	OMIM:615471
HP:0000252	Microcephaly	23019	CNOT1	OMIM:618500
HP:0000252	Microcephaly	55823	VPS11	ORPHA:466934
HP:0000252	Microcephaly	55823	VPS11	OMIM:616683
HP:0000252	Microcephaly	6777	STAT5B	OMIM:618985
HP:0000252	Microcephaly	4897	NRCAM	OMIM:619833
HP:0000252	Microcephaly	5927	KDM5A	OMIM:620820
HP:0000252	Microcephaly	23498	HAAO	OMIM:617660
HP:0000252	Microcephaly	161582	DNAAF4	OMIM:615482
HP:0000252	Microcephaly	9578	CDC42BPB	OMIM:619841
HP:0000252	Microcephaly	65993	MRPS34	OMIM:617664
HP:0000252	Microcephaly	80816	ASXL3	OMIM:615485
HP:0000252	Microcephaly	80816	ASXL3	ORPHA:352577
HP:0000252	Microcephaly	8942	KYNU	OMIM:617661
HP:0000252	Microcephaly	387787	LIPT2	OMIM:617668
HP:0000252	Microcephaly	1841	DTYMK	OMIM:619847
HP:0000252	Microcephaly	5424	POLD1	OMIM:620836
HP:0000252	Microcephaly	27229	TUBGCP4	OMIM:616335
HP:0000252	Microcephaly	27229	TUBGCP4	ORPHA:2518
HP:0000252	Microcephaly	3149	HMGB3	OMIM:300915
HP:0000252	Microcephaly	2132	EXT2	ORPHA:466926
HP:0000252	Microcephaly	2132	EXT2	OMIM:616682
HP:0000252	Microcephaly	51112	TRAPPC12	OMIM:617669
HP:0000252	Microcephaly	55636	CHD7	ORPHA:138
HP:0000252	Microcephaly	55636	CHD7	OMIM:214800
HP:0000252	Microcephaly	9723	SEMA3E	ORPHA:138
HP:0000252	Microcephaly	284403	WDR62	OMIM:604317
HP:0000252	Microcephaly	284403	WDR62	ORPHA:2512
HP:0000252	Microcephaly	288	ANK3	OMIM:615493
HP:0000252	Microcephaly	23250	ATP11A	OMIM:619851
HP:0000252	Microcephaly	1020	CDK5	OMIM:616342
HP:0000252	Microcephaly	7994	KAT6A	ORPHA:457193
HP:0000252	Microcephaly	7994	KAT6A	OMIM:616268
HP:0000252	Microcephaly	1716	DGUOK	OMIM:251880
HP:0000252	Microcephaly	8550	MAPKAPK5	OMIM:619869
HP:0000252	Microcephaly	11193	WBP4	OMIM:620852
HP:0000252	Microcephaly	23007	PLCH1	ORPHA:93925
HP:0000252	Microcephaly	23007	PLCH1	OMIM:619895
HP:0000252	Microcephaly	26834	RNU4-2	OMIM:620851
HP:0000252	Microcephaly	788	SLC25A20	ORPHA:159
HP:0000252	Microcephaly	5518	PPP2R1A	OMIM:616362
HP:0000252	Microcephaly	23126	POGZ	OMIM:616364
HP:0000252	Microcephaly	23126	POGZ	ORPHA:468678
HP:0000252	Microcephaly	55773	TBC1D23	OMIM:617695
HP:0000252	Microcephaly	8558	CDK10	OMIM:617694
HP:0000252	Microcephaly	51692	CPSF3	OMIM:619876
HP:0000252	Microcephaly	116115	ZNF526	OMIM:619877
HP:0000252	Microcephaly	5590	PRKCZ	ORPHA:1606
HP:0000252	Microcephaly	2563	GABRD	ORPHA:1606
HP:0000252	Microcephaly	23013	SPEN	ORPHA:1606
HP:0000252	Microcephaly	23013	SPEN	OMIM:619312
HP:0000252	Microcephaly	8510	MMP23B	ORPHA:1606
HP:0000252	Microcephaly	7798	LUZP1	ORPHA:1606
HP:0000252	Microcephaly	10630	PDPN	ORPHA:1606
HP:0000252	Microcephaly	10277	UBE4B	ORPHA:1606
HP:0000252	Microcephaly	8514	KCNAB2	ORPHA:1606
HP:0000252	Microcephaly	63976	PRDM16	ORPHA:1606
HP:0000252	Microcephaly	54897	CASZ1	ORPHA:1606
HP:0000252	Microcephaly	1859	DYRK1A	ORPHA:464311
HP:0000252	Microcephaly	1859	DYRK1A	ORPHA:268261
HP:0000252	Microcephaly	1859	DYRK1A	OMIM:614104
HP:0000252	Microcephaly	285362	SUMF1	ORPHA:585
HP:0000252	Microcephaly	83479	DDX59	ORPHA:2919
HP:0000252	Microcephaly	83479	DDX59	OMIM:174300
HP:0000252	Microcephaly	56098	PCDHGC4	OMIM:619880
HP:0000252	Microcephaly	4285	MIPEP	OMIM:617228
HP:0000252	Microcephaly	641	BLM	OMIM:210900
HP:0000252	Microcephaly	79633	FAT4	ORPHA:314679
HP:0000252	Microcephaly	8642	DCHS1	ORPHA:314679
HP:0000252	Microcephaly	57192	MCOLN1	ORPHA:578
HP:0000252	Microcephaly	57192	MCOLN1	OMIM:252650
HP:0000252	Microcephaly	5354	PLP1	OMIM:312080
HP:0000252	Microcephaly	3798	KIF5A	OMIM:617235
HP:0000252	Microcephaly	57679	ALS2	OMIM:205100
HP:0000252	Microcephaly	57679	ALS2	ORPHA:300605
HP:0000252	Microcephaly	8565	YARS1	OMIM:619418
HP:0000252	Microcephaly	374969	SVBP	OMIM:618569
HP:0000252	Microcephaly	84295	PHF6	ORPHA:127
HP:0000252	Microcephaly	84295	PHF6	OMIM:301900
HP:0000252	Microcephaly	6138	RPL15	ORPHA:124
HP:0000252	Microcephaly	6224	RPS20	ORPHA:124
HP:0000252	Microcephaly	6165	RPL35A	ORPHA:124
HP:0000252	Microcephaly	6132	RPL8	ORPHA:124
HP:0000252	Microcephaly	6223	RPS19	ORPHA:124
HP:0000252	Microcephaly	6223	RPS19	OMIM:105650
HP:0000252	Microcephaly	6232	RPS27	ORPHA:124
HP:0000252	Microcephaly	6160	RPL31	ORPHA:124
HP:0000252	Microcephaly	6201	RPS7	ORPHA:124
HP:0000252	Microcephaly	6155	RPL27	ORPHA:124
HP:0000252	Microcephaly	6234	RPS28	ORPHA:124
HP:0000252	Microcephaly	6135	RPL11	ORPHA:124
HP:0000252	Microcephaly	6229	RPS24	ORPHA:124
HP:0000252	Microcephaly	6125	RPL5	ORPHA:124
HP:0000252	Microcephaly	6204	RPS10	ORPHA:124
HP:0000252	Microcephaly	2623	GATA1	ORPHA:124
HP:0000252	Microcephaly	6133	RPL9	ORPHA:124
HP:0000252	Microcephaly	6231	RPS26	ORPHA:124
HP:0000252	Microcephaly	11224	RPL35	ORPHA:124
HP:0000252	Microcephaly	6218	RPS17	ORPHA:124
HP:0000252	Microcephaly	6154	RPL26	ORPHA:124
HP:0000252	Microcephaly	6210	RPS15A	ORPHA:124
HP:0000252	Microcephaly	90121	TSR2	ORPHA:124
HP:0000252	Microcephaly	6141	RPL18	ORPHA:124
HP:0000252	Microcephaly	6235	RPS29	ORPHA:124
HP:0000252	Microcephaly	51816	ADA2	ORPHA:124
HP:0000252	Microcephaly	9742	IFT140	OMIM:266920
HP:0000252	Microcephaly	55656	INTS8	OMIM:618572
HP:0000252	Microcephaly	165918	RNF168	OMIM:611943
HP:0000252	Microcephaly	165918	RNF168	ORPHA:420741
HP:0000252	Microcephaly	389827	MYMK	OMIM:254940
HP:0000252	Microcephaly	389827	MYMK	ORPHA:1358
HP:0000252	Microcephaly	51574	LARP7	OMIM:615071
HP:0000252	Microcephaly	286053	NSMCE2	OMIM:617253
HP:0000252	Microcephaly	84894	LINGO1	OMIM:618103
HP:0000252	Microcephaly	160418	TMTC3	OMIM:617255
HP:0000252	Microcephaly	123606	NIPA1	ORPHA:261183
HP:0000252	Microcephaly	7283	TUBG1	ORPHA:261183
HP:0000252	Microcephaly	7283	TUBG1	OMIM:615412
HP:0000252	Microcephaly	81614	NIPA2	ORPHA:261183
HP:0000252	Microcephaly	8473	OGT	OMIM:300997
HP:0000252	Microcephaly	53371	NUP54	OMIM:620427
HP:0000252	Microcephaly	54973	INTS11	OMIM:620428
HP:0000252	Microcephaly	6418	SET	OMIM:618106
HP:0000252	Microcephaly	9526	MPDU1	OMIM:609180
HP:0000252	Microcephaly	1120	CHKB	OMIM:602541
HP:0000252	Microcephaly	7707	ZNF148	OMIM:617260
HP:0000252	Microcephaly	6299	SALL1	OMIM:107480
HP:0000252	Microcephaly	3778	KCNMA1	OMIM:618596
HP:0000252	Microcephaly	112939	NACC1	ORPHA:500545
HP:0000252	Microcephaly	23524	SRRM2	OMIM:620439
HP:0000252	Microcephaly	5053	PAH	OMIM:261600
HP:0000252	Microcephaly	5053	PAH	ORPHA:79254
HP:0000252	Microcephaly	5053	PAH	ORPHA:2209
HP:0000252	Microcephaly	114803	MYSM1	OMIM:618116
HP:0000252	Microcephaly	4041	LRP5	OMIM:259770
HP:0000252	Microcephaly	4041	LRP5	ORPHA:891
HP:0000252	Microcephaly	3039	HBA1	ORPHA:98791
HP:0000252	Microcephaly	3040	HBA2	ORPHA:98791
HP:0000252	Microcephaly	51132	RLIM	OMIM:300978
HP:0000252	Microcephaly	4998	ORC1	OMIM:224690
HP:0000252	Microcephaly	4998	ORC1	ORPHA:2554
HP:0000252	Microcephaly	27341	RRP7A	OMIM:619453
HP:0000252	Microcephaly	3376	IARS1	ORPHA:541423
HP:0000252	Microcephaly	9675	TTI1	OMIM:620445
HP:0000252	Microcephaly	1312	COMT	ORPHA:567
HP:0000252	Microcephaly	221037	JMJD1C	ORPHA:567
HP:0000252	Microcephaly	2812	GP1BB	ORPHA:567
HP:0000252	Microcephaly	6239	RREB1	ORPHA:567
HP:0000252	Microcephaly	6899	TBX1	ORPHA:567
HP:0000252	Microcephaly	6899	TBX1	ORPHA:1727
HP:0000252	Microcephaly	6899	TBX1	OMIM:192430
HP:0000252	Microcephaly	6899	TBX1	OMIM:188400
HP:0000252	Microcephaly	7290	HIRA	ORPHA:567
HP:0000252	Microcephaly	9632	SEC24C	ORPHA:567
HP:0000252	Microcephaly	7353	UFD1	ORPHA:567
HP:0000252	Microcephaly	421	ARVCF	ORPHA:567
HP:0000252	Microcephaly	5077	PAX3	OMIM:148820
HP:0000252	Microcephaly	5077	PAX3	ORPHA:896
HP:0000252	Microcephaly	54880	BCOR	ORPHA:568
HP:0000252	Microcephaly	54880	BCOR	OMIM:300166
HP:0000252	Microcephaly	54880	BCOR	OMIM:309800
HP:0000252	Microcephaly	6821	SUOX	OMIM:272300
HP:0000252	Microcephaly	538	ATP7A	ORPHA:565
HP:0000252	Microcephaly	538	ATP7A	OMIM:309400
HP:0000252	Microcephaly	84314	TMEM107	ORPHA:564
HP:0000252	Microcephaly	80776	B9D2	ORPHA:564
HP:0000252	Microcephaly	79600	TCTN1	ORPHA:564
HP:0000252	Microcephaly	57096	RPGRIP1	ORPHA:564
HP:0000252	Microcephaly	79848	CSPP1	ORPHA:564
HP:0000252	Microcephaly	51259	TMEM216	ORPHA:564
HP:0000252	Microcephaly	57545	CC2D2A	ORPHA:564
HP:0000252	Microcephaly	79583	TMEM231	ORPHA:564
HP:0000252	Microcephaly	91147	TMEM67	ORPHA:564
HP:0000252	Microcephaly	79770	TXNDC15	ORPHA:564
HP:0000252	Microcephaly	27077	B9D1	ORPHA:564
HP:0000252	Microcephaly	23322	RPGRIP1L	ORPHA:564
HP:0000252	Microcephaly	54903	MKS1	ORPHA:564
HP:0000252	Microcephaly	54903	MKS1	OMIM:249000
HP:0000252	Microcephaly	65062	TMEM237	ORPHA:564
HP:0000252	Microcephaly	23258	DENND5A	OMIM:617281
HP:0000252	Microcephaly	92949	ADAMTSL1	ORPHA:521445
HP:0000252	Microcephaly	1974	EIF4A2	OMIM:620455
HP:0000252	Microcephaly	4548	MTR	OMIM:250940
HP:0000252	Microcephaly	6874	TAF4	OMIM:620450
HP:0000252	Microcephaly	79736	TEFM	OMIM:620451
HP:0000252	Microcephaly	84065	TMEM222	OMIM:619470
HP:0000252	Microcephaly	57187	THOC2	OMIM:300957
HP:0000252	Microcephaly	57187	THOC2	ORPHA:457240
HP:0000252	Microcephaly	10526	IPO8	OMIM:619472
HP:0000252	Microcephaly	348180	CTU2	OMIM:618142
HP:0000252	Microcephaly	94005	PIGS	OMIM:618143
HP:0000252	Microcephaly	55505	NOP10	OMIM:224230
HP:0000252	Microcephaly	55651	NHP2	OMIM:224230
HP:0000252	Microcephaly	6711	SPTBN1	OMIM:619475
HP:0000252	Microcephaly	3643	INSR	ORPHA:508
HP:0000252	Microcephaly	2131	EXT1	ORPHA:502
HP:0000252	Microcephaly	7227	TRPS1	ORPHA:502
HP:0000252	Microcephaly	6872	TAF1	OMIM:300966
HP:0000252	Microcephaly	6872	TAF1	ORPHA:480907
HP:0000252	Microcephaly	374879	ZNF699	OMIM:619488
HP:0000252	Microcephaly	60676	PAPPA2	OMIM:619489
HP:0000252	Microcephaly	9373	PLAA	ORPHA:521426
HP:0000252	Microcephaly	57038	RARS2	OMIM:611523
HP:0000252	Microcephaly	7284	TUFM	OMIM:610678
HP:0000252	Microcephaly	407975	MIR17HG	ORPHA:391646
HP:0000252	Microcephaly	55599	RNPC3	OMIM:618160
HP:0000252	Microcephaly	5805	PTS	OMIM:261640
HP:0000252	Microcephaly	4081	MAB21L1	ORPHA:495875
HP:0000252	Microcephaly	4081	MAB21L1	OMIM:618479
HP:0000252	Microcephaly	84231	TRAF7	OMIM:618164
HP:0000252	Microcephaly	63899	NSUN3	OMIM:619012
HP:0000252	Microcephaly	7157	TP53	OMIM:618165
HP:0000252	Microcephaly	2193	FARSA	OMIM:619013
HP:0000252	Microcephaly	5557	PRIM1	OMIM:620005
HP:0000252	Microcephaly	84081	NSRP1	OMIM:620001
HP:0000252	Microcephaly	54936	ADPRS	OMIM:618170
HP:0000252	Microcephaly	114034	TOE1	ORPHA:284339
HP:0000252	Microcephaly	9562	MINPP1	ORPHA:284339
HP:0000252	Microcephaly	64432	MRPS25	OMIM:619025
HP:0000252	Microcephaly	84842	HPDL	OMIM:619026
HP:0000252	Microcephaly	51002	TPRKB	ORPHA:2065
HP:0000252	Microcephaly	112858	TP53RK	ORPHA:2065
HP:0000252	Microcephaly	8270	LAGE3	ORPHA:2065
HP:0000252	Microcephaly	55294	FBXW7	OMIM:620012
HP:0000252	Microcephaly	1183	CLCN4	OMIM:300114
HP:0000252	Microcephaly	1183	CLCN4	ORPHA:485350
HP:0000252	Microcephaly	5393	EXOSC9	OMIM:618065
HP:0000252	Microcephaly	123263	MTFMT	OMIM:614947
HP:0000252	Microcephaly	10667	FARS2	OMIM:614946
HP:0000252	Microcephaly	9839	ZEB2	OMIM:235730
HP:0000252	Microcephaly	80232	WDR26	ORPHA:513456
HP:0000252	Microcephaly	4010	LMX1B	ORPHA:495818
HP:0000252	Microcephaly	6812	STXBP1	ORPHA:495818
HP:0000252	Microcephaly	4552	MTRR	ORPHA:2169
HP:0000252	Microcephaly	80055	PGAP1	OMIM:615802
HP:0000252	Microcephaly	10978	CLP1	OMIM:615803
HP:0000252	Microcephaly	10225	CD96	OMIM:211750
HP:0000252	Microcephaly	10225	CD96	ORPHA:1308
HP:0000252	Microcephaly	6197	RPS6KA3	OMIM:303600
HP:0000252	Microcephaly	6197	RPS6KA3	ORPHA:192
HP:0000252	Microcephaly	8913	CACNA1G	OMIM:618087
HP:0000252	Microcephaly	80204	FBXO11	OMIM:618089
HP:0000252	Microcephaly	1509	CTSD	OMIM:610127
HP:0000252	Microcephaly	23325	WASHC4	OMIM:615817
HP:0000252	Microcephaly	57531	HACE1	ORPHA:464282
HP:0000252	Microcephaly	57531	HACE1	OMIM:616756
HP:0000252	Microcephaly	7156	TOP3A	OMIM:618097
HP:0000252	Microcephaly	1009	CDH11	ORPHA:1299
HP:0000252	Microcephaly	54496	PRMT7	ORPHA:464288
HP:0000252	Microcephaly	54496	PRMT7	OMIM:617157
HP:0000252	Microcephaly	5063	PAK3	OMIM:300558
HP:0000252	Microcephaly	10056	FARSB	OMIM:613658
HP:0000252	Microcephaly	54499	TMCO1	OMIM:213980
HP:0000252	Microcephaly	440138	ALG11	OMIM:613661
HP:0000252	Microcephaly	440138	ALG11	ORPHA:280071
HP:0000252	Microcephaly	3708	ITPR1	OMIM:117360
HP:0000252	Microcephaly	5422	POLA1	ORPHA:163976
HP:0000252	Microcephaly	5422	POLA1	OMIM:301030
HP:0000252	Microcephaly	55275	VPS53	OMIM:615851
HP:0000252	Microcephaly	51067	YARS2	ORPHA:2598
HP:0000252	Microcephaly	28962	OSTM1	OMIM:259720
HP:0000252	Microcephaly	79228	THOC6	OMIM:613680
HP:0000252	Microcephaly	2033	EP300	OMIM:613684
HP:0000252	Microcephaly	2033	EP300	OMIM:180849
HP:0000252	Microcephaly	5830	PEX5	OMIM:616716
HP:0000252	Microcephaly	5830	PEX5	ORPHA:912
HP:0000252	Microcephaly	219285	SAMD9L	ORPHA:2585
HP:0000252	Microcephaly	84181	CHD6	ORPHA:2108
HP:0000252	Microcephaly	2245	FGD1	OMIM:305400
HP:0000252	Microcephaly	27238	GPKOW	ORPHA:2570
HP:0000252	Microcephaly	5648	MASP1	OMIM:257920
HP:0000252	Microcephaly	79796	ALG9	OMIM:608776
HP:0000252	Microcephaly	79796	ALG9	OMIM:263210
HP:0000252	Microcephaly	26115	TANC2	OMIM:618906
HP:0000252	Microcephaly	55593	OTUD5	OMIM:301056
HP:0000252	Microcephaly	5160	PDHA1	OMIM:312170
HP:0000252	Microcephaly	5160	PDHA1	ORPHA:79243
HP:0000252	Microcephaly	54101	RIPK4	ORPHA:1234
HP:0000252	Microcephaly	50	ACO2	OMIM:614559
HP:0000252	Microcephaly	10982	MAPRE2	OMIM:616734
HP:0000252	Microcephaly	10982	MAPRE2	ORPHA:2505
HP:0000252	Microcephaly	3176	HNMT	OMIM:616739
HP:0000252	Microcephaly	4131	MAP1B	OMIM:618918
HP:0000252	Microcephaly	1778	DYNC1H1	OMIM:614563
HP:0000252	Microcephaly	3796	KIF2A	OMIM:615411
HP:0000252	Microcephaly	80746	TSEN2	OMIM:612389
HP:0000252	Microcephaly	1911	PHC1	OMIM:615414
HP:0000252	Microcephaly	1911	PHC1	ORPHA:2512
HP:0000252	Microcephaly	3759	KCNJ2	OMIM:170390
HP:0000252	Microcephaly	100506658	OCLN	ORPHA:1229
HP:0000252	Microcephaly	100506658	OCLN	OMIM:251290
HP:0000252	Microcephaly	8318	CDC45	ORPHA:2554
HP:0000252	Microcephaly	54539	NDUFB11	ORPHA:2556
HP:0000252	Microcephaly	54539	NDUFB11	ORPHA:2609
HP:0000252	Microcephaly	54539	NDUFB11	OMIM:309801
HP:0000252	Microcephaly	3052	HCCS	ORPHA:2556
HP:0000252	Microcephaly	3052	HCCS	OMIM:309801
HP:0000252	Microcephaly	79042	TSEN34	OMIM:612390
HP:0000252	Microcephaly	57511	COG6	OMIM:614576
HP:0000252	Microcephaly	57511	COG6	OMIM:615328
HP:0000252	Microcephaly	83696	TRAPPC9	ORPHA:352530
HP:0000252	Microcephaly	29980	DONSON	OMIM:617604
HP:0000252	Microcephaly	29980	DONSON	OMIM:251230
HP:0000252	Microcephaly	84172	POLR1B	OMIM:618939
HP:0000252	Microcephaly	60	ACTB	OMIM:243310
HP:0000252	Microcephaly	60	ACTB	ORPHA:2995
HP:0000252	Microcephaly	6878	TAF6	ORPHA:199
HP:0000252	Microcephaly	6878	TAF6	OMIM:617126
HP:0000252	Microcephaly	9997	SCO2	OMIM:604377
HP:0000252	Microcephaly	157680	VPS13B	ORPHA:193
HP:0000252	Microcephaly	157680	VPS13B	OMIM:216550
HP:0000252	Microcephaly	81689	ISCA1	OMIM:617613
HP:0000252	Microcephaly	1861	TOR1A	OMIM:618947
HP:0000252	Microcephaly	998	CDC42	ORPHA:487796
HP:0000252	Microcephaly	64857	PLEKHG2	OMIM:616763
HP:0000252	Microcephaly	51520	LARS1	OMIM:615438
HP:0000252	Microcephaly	4329	ALDH6A1	OMIM:614105
HP:0000252	Microcephaly	25914	RTTN	ORPHA:468631
HP:0000252	Microcephaly	25914	RTTN	OMIM:614833
HP:0000252	Microcephaly	80781	COL18A1	OMIM:267750
HP:0000252	Microcephaly	7343	UBTF	ORPHA:500180
HP:0000252	Microcephaly	55617	TASP1	OMIM:618950
HP:0000252	Microcephaly	60528	ELAC2	OMIM:615440
HP:0000252	Microcephaly	28957	MRPS28	OMIM:618958
HP:0000252	Microcephaly	3832	KIF11	ORPHA:2526
HP:0000252	Microcephaly	3832	KIF11	OMIM:152950
HP:0000252	Microcephaly	259266	ASPM	OMIM:608716
HP:0000252	Microcephaly	259266	ASPM	ORPHA:2512
HP:0000252	Microcephaly	7991	TUSC3	OMIM:611093
HP:0000252	Microcephaly	4763	NF1	ORPHA:139474
HP:0000252	Microcephaly	1804	DPP6	ORPHA:2514
HP:0000252	Microcephaly	1804	DPP6	OMIM:616311
HP:0000252	Microcephaly	8192	CLPP	OMIM:614129
HP:0000252	Microcephaly	85378	TUBGCP6	ORPHA:2518
HP:0000252	Microcephaly	85378	TUBGCP6	OMIM:251270
HP:0000252	Microcephaly	4621	MYH3	ORPHA:2990
HP:0000252	Microcephaly	4621	MYH3	OMIM:178110
HP:0000252	Microcephaly	4621	MYH3	OMIM:193700
HP:0000252	Microcephaly	1146	CHRNG	ORPHA:2990
HP:0000252	Microcephaly	128637	TBC1D20	ORPHA:2510
HP:0000252	Microcephaly	71	ACTG1	ORPHA:2995
HP:0000252	Microcephaly	11113	CIT	ORPHA:2512
HP:0000252	Microcephaly	9928	KIF14	ORPHA:2512
HP:0000252	Microcephaly	9928	KIF14	OMIM:616258
HP:0000252	Microcephaly	9928	KIF14	OMIM:617914
HP:0000252	Microcephaly	55262	TRAPPC14	ORPHA:2512
HP:0000252	Microcephaly	163786	SASS6	ORPHA:2512
HP:0000252	Microcephaly	29920	PYCR2	ORPHA:2512
HP:0000252	Microcephaly	4176	MCM7	ORPHA:2512
HP:0000252	Microcephaly	80254	CEP63	ORPHA:2512
HP:0000252	Microcephaly	79023	NUP37	ORPHA:2512
HP:0000252	Microcephaly	23310	NCAPD3	ORPHA:2512
HP:0000252	Microcephaly	23310	NCAPD3	OMIM:617984
HP:0000252	Microcephaly	79648	MCPH1	ORPHA:2512
HP:0000252	Microcephaly	23141	ANKLE2	ORPHA:2512
HP:0000252	Microcephaly	7453	WARS1	ORPHA:2512
HP:0000252	Microcephaly	9662	CEP135	ORPHA:2512
HP:0000252	Microcephaly	57082	KNL1	ORPHA:2512
HP:0000252	Microcephaly	1021	CDK6	ORPHA:2512
HP:0000252	Microcephaly	8884	SLC5A6	OMIM:618973
HP:0000252	Microcephaly	55367	PIDD1	OMIM:619827
HP:0000252	Microcephaly	10749	KIF1C	ORPHA:397946
HP:0000252	Microcephaly	25915	NDUFAF3	ORPHA:2609
HP:0000252	Microcephaly	51103	NDUFAF1	ORPHA:2609
HP:0000252	Microcephaly	91942	NDUFAF2	ORPHA:2609
HP:0000252	Microcephaly	51300	TIMMDC1	ORPHA:2609
HP:0000252	Microcephaly	4716	NDUFB10	ORPHA:2609
HP:0000252	Microcephaly	4723	NDUFV1	ORPHA:2609
HP:0000252	Microcephaly	55572	FOXRED1	ORPHA:2609
HP:0000252	Microcephaly	284184	NDUFAF8	ORPHA:2609
HP:0000252	Microcephaly	55863	TMEM126B	ORPHA:2609
HP:0000252	Microcephaly	4535	MT-ND1	ORPHA:2609
HP:0000252	Microcephaly	4537	MT-ND3	ORPHA:2609
HP:0000252	Microcephaly	4694	NDUFA1	ORPHA:2609
HP:0000252	Microcephaly	4720	NDUFS2	ORPHA:2609
HP:0000252	Microcephaly	4726	NDUFS6	ORPHA:2609
HP:0000252	Microcephaly	4728	NDUFS8	ORPHA:2609
HP:0000252	Microcephaly	4722	NDUFS3	ORPHA:2609
HP:0000252	Microcephaly	79133	NDUFAF5	ORPHA:2609
HP:0000252	Microcephaly	126328	NDUFA11	ORPHA:2609
HP:0000252	Microcephaly	4709	NDUFB3	ORPHA:2609
HP:0000252	Microcephaly	80224	NUBPL	ORPHA:2609
HP:0000252	Microcephaly	29078	NDUFAF4	ORPHA:2609
HP:0000252	Microcephaly	374291	NDUFS7	ORPHA:2609
HP:0000252	Microcephaly	4700	NDUFA6	ORPHA:2609
HP:0000252	Microcephaly	4536	MT-ND2	ORPHA:2609
HP:0000252	Microcephaly	4715	NDUFB9	ORPHA:2609
HP:0000252	Microcephaly	104	ADARB1	OMIM:618862
HP:0000252	Microcephaly	60684	TRAPPC11	OMIM:615356
HP:0000252	Microcephaly	60684	TRAPPC11	ORPHA:869
HP:0000252	Microcephaly	60684	TRAPPC11	ORPHA:369840
HP:0000252	Microcephaly	10973	ASCC3	OMIM:620700
HP:0000252	Microcephaly	3020	H3-3A	OMIM:619720
HP:0000252	Microcephaly	3021	H3-3B	OMIM:619721
HP:0000252	Microcephaly	10300	KATNB1	OMIM:616212
HP:0000252	Microcephaly	4056	LTC4S	OMIM:614037
HP:0000252	Microcephaly	72	ACTG2	ORPHA:2604
HP:0000252	Microcephaly	472	ATM	OMIM:208900
HP:0000252	Microcephaly	5610	EIF2AK2	OMIM:618877
HP:0000252	Microcephaly	3781	KCNN2	OMIM:619725
HP:0000252	Microcephaly	137492	VPS37A	ORPHA:319199
HP:0000252	Microcephaly	2590	GALNT2	OMIM:618885
HP:0000252	Microcephaly	9698	PUM1	OMIM:620719
HP:0000252	Microcephaly	51319	RSRC1	OMIM:618402
HP:0000252	Microcephaly	23761	PISD	OMIM:618889
HP:0000252	Microcephaly	7020	TFAP2A	OMIM:113620
HP:0000252	Microcephaly	55703	POLR3B	OMIM:619742
HP:0000252	Microcephaly	5442	POLRMT	OMIM:619743
HP:0000252	Microcephaly	4297	KMT2A	ORPHA:319182
HP:0000252	Microcephaly	4297	KMT2A	OMIM:605130
HP:0000252	Microcephaly	25930	PTPN23	OMIM:618890
HP:0000252	Microcephaly	79731	NARS2	OMIM:616239
HP:0000252	Microcephaly	55361	PI4K2A	OMIM:620732
HP:0000252	Microcephaly	79158	GNPTAB	OMIM:252600
HP:0000252	Microcephaly	339983	NAT8L	OMIM:614063
HP:0000252	Microcephaly	8879	SGPL1	OMIM:617575
HP:0000252	Microcephaly	57282	SLC4A10	OMIM:620746
HP:0000252	Microcephaly	8021	NUP214	OMIM:618426
HP:0000252	Microcephaly	8364	H4C3	OMIM:619758
HP:0000252	Microcephaly	145258	GSC	OMIM:602471
HP:0000252	Microcephaly	53335	BCL11A	OMIM:617101
HP:0000252	Microcephaly	54487	DGCR8	OMIM:192430
HP:0000252	Microcephaly	8214	DGCR6	OMIM:192430
HP:0000252	Microcephaly	8220	ESS2	OMIM:192430
HP:0000252	Microcephaly	9993	DGCR2	OMIM:192430
HP:0000252	Microcephaly	2271	FH	OMIM:606812
HP:0000252	Microcephaly	57724	EPG5	OMIM:242840
HP:0000252	Microcephaly	23162	MAPK8IP3	OMIM:618443
HP:0000252	Microcephaly	10463	SLC30A9	OMIM:617595
HP:0000252	Microcephaly	80173	IFT74	OMIM:617119
HP:0000252	Microcephaly	10195	ALG3	ORPHA:79321
HP:0000252	Microcephaly	10195	ALG3	OMIM:601110
HP:0000252	Microcephaly	8295	TRRAP	OMIM:618454
HP:0000252	Microcephaly	81570	CLPB	OMIM:616271
HP:0000252	Microcephaly	221078	NSUN6	OMIM:620779
HP:0000252	Microcephaly	51013	EXOSC1	OMIM:619304
HP:0000252	Microcephaly	27145	FILIP1	OMIM:620775
HP:0000252	Microcephaly	78987	CRELD1	OMIM:620771
HP:0000252	Microcephaly	9900	SV2A	OMIM:620772
HP:0000252	Microcephaly	84706	GPT2	OMIM:616281
HP:0000252	Microcephaly	84706	GPT2	ORPHA:477673
HP:0000252	Microcephaly	54892	NCAPG2	OMIM:618460
HP:0000252	Microcephaly	51728	POLR3K	OMIM:619310
HP:0000252	Microcephaly	85476	GFM1	OMIM:609060
HP:0000252	Microcephaly	79903	NAA60	OMIM:620786
HP:0000252	Microcephaly	6650	CAPN15	OMIM:619318
HP:0000252	Microcephaly	11267	SNF8	OMIM:620784
HP:0000252	Microcephaly	256297	PTF1A	OMIM:609069
HP:0000252	Microcephaly	221496	LEMD2	OMIM:619322
HP:0000252	Microcephaly	29998	BICRA	OMIM:619325
HP:0000252	Microcephaly	8882	ZPR1	OMIM:619321
HP:0000252	Microcephaly	10073	SNUPN	OMIM:620793
HP:0000252	Microcephaly	84892	POMGNT2	ORPHA:899
HP:0000252	Microcephaly	148789	B3GALNT2	ORPHA:899
HP:0000252	Microcephaly	1282	COL4A1	ORPHA:899
HP:0000252	Microcephaly	10329	RXYLT1	ORPHA:899
HP:0000252	Microcephaly	1605	DAG1	ORPHA:899
HP:0000252	Microcephaly	11041	B4GAT1	ORPHA:899
HP:0000252	Microcephaly	8869	ST3GAL5	OMIM:609056
HP:0000252	Microcephaly	23221	RHOBTB2	OMIM:618004
HP:0000252	Microcephaly	2530	FUT8	OMIM:618005
HP:0000252	Microcephaly	79641	ROGDI	OMIM:226750
HP:0000252	Microcephaly	7965	AIMP2	OMIM:618006
HP:0000252	Microcephaly	4141	MARS1	OMIM:620323
HP:0000252	Microcephaly	3913	LAMB2	OMIM:609049
HP:0000252	Microcephaly	1781	DYNC1I2	OMIM:618492
HP:0000252	Microcephaly	191	AHCY	ORPHA:88618
HP:0000252	Microcephaly	8091	HMGA2	ORPHA:94063
HP:0000252	Microcephaly	23592	LEMD3	ORPHA:94063
HP:0000252	Microcephaly	26276	VPS33B	OMIM:208085
HP:0000252	Microcephaly	372	ARCN1	OMIM:617164
HP:0000252	Microcephaly	54681	P4HTM	OMIM:618493
HP:0000252	Microcephaly	5283	PIGH	OMIM:618010
HP:0000252	Microcephaly	9343	EFTUD2	OMIM:610536
HP:0000252	Microcephaly	60386	SLC25A19	ORPHA:99742
HP:0000252	Microcephaly	64864	RFX7	OMIM:620330
HP:0000252	Microcephaly	668	FOXL2	OMIM:110100
HP:0000252	Microcephaly	9791	PTDSS1	OMIM:151050
HP:0000252	Microcephaly	37	ACADVL	OMIM:201475
HP:0000252	Microcephaly	5281	PIGF	OMIM:619356
HP:0000252	Microcephaly	1387	CREBBP	OMIM:180849
HP:0000252	Microcephaly	1387	CREBBP	ORPHA:592574
HP:0000252	Microcephaly	57514	ARHGAP31	OMIM:100300
HP:0000252	Microcephaly	29926	GMPPA	ORPHA:869
HP:0000252	Microcephaly	10681	GNB5	OMIM:617182
HP:0000252	Microcephaly	79143	MBOAT7	OMIM:617188
HP:0000252	Microcephaly	5080	PAX6	ORPHA:893
HP:0000252	Microcephaly	7490	WT1	ORPHA:893
HP:0000252	Microcephaly	627	BDNF	ORPHA:893
HP:0000252	Microcephaly	6904	TBCD	OMIM:617193
HP:0000252	Microcephaly	23554	TSPAN12	ORPHA:891
HP:0000252	Microcephaly	79797	ZNF408	ORPHA:891
HP:0000252	Microcephaly	8322	FZD4	ORPHA:891
HP:0000252	Microcephaly	2733	GLE1	OMIM:611890
HP:0000252	Microcephaly	2261	FGFR3	ORPHA:85165
HP:0000252	Microcephaly	2261	FGFR3	OMIM:610474
HP:0000252	Microcephaly	10295	BCKDK	OMIM:614923
HP:0000252	Microcephaly	11011	TLK2	OMIM:618050
HP:0000252	Microcephaly	5965	RECQL	OMIM:620370
HP:0000252	Microcephaly	23040	MYT1L	ORPHA:647799
HP:0000252	Microcephaly	267	AMFR	OMIM:620379
HP:0000252	Microcephaly	90952	ESAM	OMIM:620371
HP:0000252	Microcephaly	4702	NDUFA8	OMIM:619272
HP:0000252	Microcephaly	27183	VPS4A	OMIM:619273
HP:0000252	Microcephaly	10128	LRPPRC	OMIM:220111
HP:0000252	Microcephaly	81555	YIPF5	OMIM:619278
HP:0000252	Microcephaly	55532	SLC30A10	ORPHA:309854
HP:0000252	Microcephaly	132158	GLYCTK	ORPHA:941
HP:0000252	Microcephaly	132158	GLYCTK	OMIM:220120
HP:0000252	Microcephaly	8443	GNPAT	OMIM:222765
HP:0000252	Microcephaly	9442	MED27	OMIM:619286
HP:0000252	Microcephaly	56246	MRAP	OMIM:607398
HP:0000252	Microcephaly	64324	NSD1	ORPHA:228415
HP:0000252	Microcephaly	1353	COX11	OMIM:620275
HP:0000252	Microcephaly	3899	AFF3	OMIM:619297
HP:0000252	Microcephaly	36	ACADSB	OMIM:610006
HP:0000252	Microcephaly	8546	AP3B1	OMIM:608233
HP:0000252	Microcephaly	51199	NIN	OMIM:614851
HP:0000252	Microcephaly	51199	NIN	ORPHA:319675
HP:0000252	Microcephaly	4338	MOCS2	OMIM:252160
HP:0000252	Microcephaly	197257	LDHD	OMIM:245450
HP:0000252	Microcephaly	9255	AIMP1	OMIM:260600
HP:0000252	Microcephaly	6804	STX1A	ORPHA:904
HP:0000252	Microcephaly	7461	CLIP2	ORPHA:904
HP:0000252	Microcephaly	84277	DNAJC30	ORPHA:904
HP:0000252	Microcephaly	8468	FKBP6	ORPHA:904
HP:0000252	Microcephaly	5982	RFC2	ORPHA:904
HP:0000252	Microcephaly	2969	GTF2I	ORPHA:904
HP:0000252	Microcephaly	3984	LIMK1	ORPHA:904
HP:0000252	Microcephaly	9569	GTF2IRD1	ORPHA:904
HP:0000252	Microcephaly	155382	VPS37D	ORPHA:904
HP:0000252	Microcephaly	155368	METTL27	ORPHA:904
HP:0000252	Microcephaly	114049	BUD23	ORPHA:904
HP:0000252	Microcephaly	7458	EIF4H	ORPHA:904
HP:0000252	Microcephaly	84163	GTF2IRD2	ORPHA:904
HP:0000252	Microcephaly	26608	TBL2	ORPHA:904
HP:0000252	Microcephaly	653361	NCF1	ORPHA:904
HP:0000252	Microcephaly	135886	TMEM270	ORPHA:904
HP:0000252	Microcephaly	9031	BAZ1B	ORPHA:904
HP:0000252	Microcephaly	5297	PI4KA	ORPHA:98889
HP:0000252	Microcephaly	27286	SRPX2	ORPHA:98889
HP:0000252	Microcephaly	375748	ERCC6L2	OMIM:615715
HP:0000252	Microcephaly	93210	PGAP3	OMIM:615716
HP:0000252	Microcephaly	2521	FUS	ORPHA:300605
HP:0000252	Microcephaly	80208	SPG11	ORPHA:300605
HP:0000252	Microcephaly	10280	SIGMAR1	ORPHA:300605
HP:0000252	Microcephaly	10558	SPTLC1	ORPHA:300605
HP:0000252	Microcephaly	6628	SNRPB	ORPHA:1393
HP:0000252	Microcephaly	6628	SNRPB	OMIM:117650
HP:0000252	Microcephaly	5293	PIK3CD	ORPHA:397596
HP:0000252	Microcephaly	5295	PIK3R1	ORPHA:397596
HP:0000252	Microcephaly	26047	CNTNAP2	OMIM:610042
HP:0000252	Microcephaly	162417	NAGS	ORPHA:927
HP:0000252	Microcephaly	50628	GEMIN4	OMIM:617913
HP:0000252	Microcephaly	5824	PEX19	OMIM:614886
HP:0000252	Microcephaly	5824	PEX19	ORPHA:912
HP:0000252	Microcephaly	867	CBL	OMIM:613563
HP:0000252	Microcephaly	55670	PEX26	ORPHA:912
HP:0000252	Microcephaly	5828	PEX2	ORPHA:912
HP:0000252	Microcephaly	8504	PEX3	ORPHA:912
HP:0000252	Microcephaly	8799	PEX11B	ORPHA:912
HP:0000252	Microcephaly	9409	PEX16	ORPHA:912
HP:0000252	Microcephaly	5190	PEX6	ORPHA:912
HP:0000252	Microcephaly	5189	PEX1	ORPHA:912
HP:0000252	Microcephaly	5193	PEX12	ORPHA:912
HP:0000252	Microcephaly	5194	PEX13	ORPHA:912
HP:0000252	Microcephaly	5195	PEX14	ORPHA:912
HP:0000252	Microcephaly	5192	PEX10	ORPHA:912
HP:0000252	Microcephaly	7507	XPA	ORPHA:910
HP:0000252	Microcephaly	7507	XPA	OMIM:278700
HP:0000252	Microcephaly	7508	XPC	ORPHA:910
HP:0000252	Microcephaly	1643	DDB2	ORPHA:910
HP:0000252	Microcephaly	4173	MCM4	OMIM:609981
HP:0000252	Microcephaly	55187	VPS13D	OMIM:607317
HP:0000252	Microcephaly	5859	QARS1	OMIM:615760
HP:0000252	Microcephaly	10157	AASS	ORPHA:2203
HP:0000252	Microcephaly	79631	EFL1	OMIM:617941
HP:0000252	Microcephaly	5429	POLH	OMIM:278750
HP:0000252	Microcephaly	30008	EFEMP2	OMIM:614437
HP:0000252	Microcephaly	101929726	MYMX	ORPHA:1358
HP:0000252	Microcephaly	2058	EPRS1	OMIM:617951
HP:0000252	Microcephaly	1063	CENPF	OMIM:243605
HP:0000252	Microcephaly	9361	LONP1	ORPHA:79243
HP:0000252	Microcephaly	20	ABCA2	OMIM:618808
HP:0000252	Microcephaly	1729	DIAPH1	OMIM:616632
HP:0000252	Microcephaly	175	AGA	OMIM:208400
HP:0000252	Microcephaly	6785	ELOVL4	OMIM:614457
HP:0000252	Microcephaly	9419	CRIPT	OMIM:615789
HP:0000252	Microcephaly	27010	TPK1	OMIM:614458
HP:0000252	Microcephaly	2584	GALK1	ORPHA:79237
HP:0000252	Microcephaly	7874	USP7	ORPHA:500055
HP:0000252	Microcephaly	11019	LIAS	OMIM:614462
HP:0000252	Microcephaly	4337	MOCS1	OMIM:252150
HP:0000252	Microcephaly	29957	SLC25A24	OMIM:612289
HP:0000252	Microcephaly	3704	ITPA	OMIM:616647
HP:0000252	Microcephaly	56270	WDR45B	OMIM:617977
HP:0000252	Microcephaly	54870	QRICH1	OMIM:617982
HP:0000252	Microcephaly	6911	TBX6	ORPHA:1797
HP:0000252	Microcephaly	23397	NCAPH	OMIM:617985
HP:0000252	Microcephaly	6509	SLC1A4	OMIM:616657
HP:0000252	Microcephaly	54676	GTPBP2	OMIM:617988
HP:0000252	Microcephaly	158326	FREM1	OMIM:614485
HP:0000252	Microcephaly	200205	IBA57	OMIM:615330
HP:0000252	Microcephaly	25974	MMACHC	ORPHA:79282
HP:0000252	Microcephaly	25974	MMACHC	OMIM:277400
HP:0000252	Microcephaly	1807	DPYS	OMIM:222748
HP:0000252	Microcephaly	9203	ZMYM3	OMIM:301111
HP:0000252	Microcephaly	23133	PHF8	OMIM:300263
HP:0000252	Microcephaly	51733	UPB1	OMIM:613161
HP:0000252	Microcephaly	23001	WDFY3	OMIM:617520
HP:0000252	Microcephaly	79587	CARS2	OMIM:616672
HP:0000252	Microcephaly	35	ACADS	ORPHA:26792
HP:0000252	Microcephaly	221927	BRAT1	OMIM:614498
HP:0000252	Microcephaly	55753	OGDHL	OMIM:619701
HP:0000252	Microcephaly	5052	PRDX1	OMIM:277400
HP:0000252	Microcephaly	1267	CNP	OMIM:619071
HP:0000252	Microcephaly	10617	STAMBP	OMIM:614261
HP:0000252	Microcephaly	91452	ACBD5	OMIM:618863
HP:0000252	Microcephaly	51660	MPC1	OMIM:614741
HP:0000252	Microcephaly	11340	EXOSC8	ORPHA:2254
HP:0000252	Microcephaly	51010	EXOSC3	ORPHA:2254
HP:0000252	Microcephaly	51010	EXOSC3	OMIM:614678
HP:0000252	Microcephaly	91137	SLC25A46	ORPHA:2254
HP:0000252	Microcephaly	51091	SEPSECS	OMIM:613811
HP:0000252	Microcephaly	51091	SEPSECS	ORPHA:2524
HP:0000252	Microcephaly	122553	TRAPPC6B	OMIM:617862
HP:0000252	Microcephaly	116461	TSEN15	OMIM:617026
HP:0000252	Microcephaly	116461	TSEN15	ORPHA:2524
HP:0000252	Microcephaly	57688	ZSWIM6	OMIM:617865
HP:0000252	Microcephaly	4190	MDH1	OMIM:618959
HP:0000252	Microcephaly	55704	CCDC88A	OMIM:617507
HP:0000252	Microcephaly	54862	CC2D1A	OMIM:608443
HP:0000252	Microcephaly	2891	GRIA2	OMIM:618917
HP:0000252	Microcephaly	529	ATP6V1E1	ORPHA:357074
HP:0000252	Microcephaly	203190	LGI3	OMIM:620007
HP:0000252	Microcephaly	2806	GOT2	OMIM:618721
HP:0000252	Microcephaly	79087	ALG12	ORPHA:79324
HP:0000252	Microcephaly	79087	ALG12	OMIM:607143
HP:0000252	Microcephaly	10844	TUBGCP2	OMIM:618737
HP:0000252	Microcephaly	27445	PCLO	OMIM:608027
HP:0000252	Microcephaly	1967	EIF2B1	OMIM:603896
HP:0000252	Microcephaly	57194	ATP10A	ORPHA:411515
HP:0000252	Microcephaly	9853	RUSC2	OMIM:617773
HP:0000252	Microcephaly	83700	JAM3	OMIM:613730
HP:0000252	Microcephaly	2653	GCSH	OMIM:620423
HP:0000252	Microcephaly	53616	ADAM22	OMIM:617933
HP:0000252	Microcephaly	6571	SLC18A2	ORPHA:352649
HP:0000252	Microcephaly	22854	NTNG1	ORPHA:3095
HP:0000252	Microcephaly	55610	VPS50	OMIM:619685
HP:0000252	Microcephaly	51506	UFC1	OMIM:618076
HP:0000252	Microcephaly	6392	SDHD	OMIM:619167
HP:0000252	Microcephaly	9915	ARNT2	OMIM:615926
HP:0000252	Microcephaly	5048	PAFAH1B1	OMIM:607432
HP:0000252	Microcephaly	271	AMPD2	OMIM:615809
HP:0000252	Microcephaly	79068	FTO	OMIM:612938
HP:0000252	Microcephaly	7337	UBE3A	ORPHA:98794
HP:0000252	Microcephaly	7337	UBE3A	ORPHA:98795
HP:0000252	Microcephaly	7337	UBE3A	OMIM:105830
HP:0000252	Microcephaly	7337	UBE3A	ORPHA:411511
HP:0000252	Microcephaly	4948	OCA2	ORPHA:98794
HP:0000252	Microcephaly	22796	COG2	OMIM:617395
HP:0000252	Microcephaly	22796	COG2	ORPHA:435934
HP:0000252	Microcephaly	9512	PMPCB	OMIM:617954
HP:0000252	Microcephaly	5119	CHMP1A	OMIM:614961
HP:0000252	Microcephaly	9692	PRORP	OMIM:619737
HP:0000252	Microcephaly	54543	TOMM7	OMIM:620601
HP:0000252	Microcephaly	8560	DEGS1	OMIM:618404
HP:0000252	Microcephaly	55858	TMEM165	OMIM:614727
HP:0000252	Microcephaly	54675	CRLS1	OMIM:620167
HP:0000252	Microcephaly	22845	DOLK	OMIM:610768
HP:0000252	Microcephaly	8604	SLC25A12	OMIM:612949
HP:0000252	Microcephaly	10087	CERT1	OMIM:616351
HP:0000252	Microcephaly	51651	PTRH2	ORPHA:456312
HP:0000252	Microcephaly	51651	PTRH2	OMIM:616263
HP:0000252	Microcephaly	22884	WDR37	OMIM:618652
HP:0000252	Microcephaly	2903	GRIN2A	ORPHA:289266
HP:0000252	Microcephaly	3188	HNRNPH2	OMIM:300986
HP:0000252	Microcephaly	23065	EMC1	OMIM:616875
HP:0000252	Microcephaly	1641	DCX	ORPHA:2148
HP:0000252	Microcephaly	11212	PLPBP	OMIM:617290
HP:0000252	Microcephaly	51501	HIKESHI	OMIM:616881
HP:0000252	Microcephaly	4659	PPP1R12A	OMIM:618820
HP:0000252	Microcephaly	10236	HNRNPR	OMIM:620073
HP:0000252	Microcephaly	8818	DPM2	OMIM:615042
HP:0000252	Microcephaly	56947	MFF	ORPHA:485421
HP:0000252	Microcephaly	56947	MFF	OMIM:617086
HP:0000252	Microcephaly	539	ATP5PO	OMIM:620359
HP:0000252	Microcephaly	9440	MED17	OMIM:613668
HP:0000252	Microcephaly	118924	FRA10AC1	OMIM:620113
HP:0000252	Microcephaly	8813	DPM1	OMIM:608799
HP:0000252	Microcephaly	8813	DPM1	ORPHA:79322
HP:0000252	Microcephaly	5538	PPT1	OMIM:256730
HP:0000252	Microcephaly	125988	MICOS13	OMIM:618329
HP:0000252	Microcephaly	1719	DHFR	OMIM:613839
HP:0000252	Microcephaly	10079	ATP9A	OMIM:620242
HP:0000252	Microcephaly	205327	C2orf69	OMIM:619423
HP:0000252	Microcephaly	1496	CTNNA2	OMIM:618174
HP:0000252	Microcephaly	51693	TRAPPC2L	OMIM:618331
HP:0000252	Microcephaly	57017	COQ9	OMIM:614654
HP:0000252	Microcephaly	27429	HTRA2	OMIM:617248
HP:0000252	Microcephaly	3329	HSPD1	OMIM:612233
HP:0000252	Microcephaly	5908	RAP1B	OMIM:620654
HP:0000252	Microcephaly	55770	EXOC2	OMIM:619306
HP:0000252	Microcephaly	2744	GLS	OMIM:618339
HP:0000252	Microcephaly	91949	COG7	OMIM:608779
HP:0000252	Microcephaly	91949	COG7	ORPHA:79333
HP:0000252	Microcephaly	80347	COASY	OMIM:618266
HP:0000252	Microcephaly	8405	SPOP	OMIM:618828
HP:0000252	Microcephaly	51124	IER3IP1	OMIM:614231
HP:0000252	Microcephaly	9918	NCAPD2	OMIM:617983
HP:0000252	Microcephaly	8320	EOMES	ORPHA:171703
HP:0000252	Microcephaly	1984	EIF5A	OMIM:619376
HP:0000252	Microcephaly	23511	NUP188	OMIM:618804
HP:0000252	Microcephaly	85459	CEP295	OMIM:620767
HP:0000252	Microcephaly	51294	PCDH12	OMIM:251280
HP:0000252	Microcephaly	10015	PDCD6IP	OMIM:620047
HP:0000252	Microcephaly	6045	RNF2	OMIM:619460
HP:0000252	Microcephaly	84823	LMNB2	OMIM:619180
HP:0000252	Microcephaly	55697	VAC14	ORPHA:3472
HP:0000252	Microcephaly	4905	NSF	OMIM:619340
HP:0000252	Microcephaly	9181	ARHGEF2	OMIM:617523
HP:0001367	Abnormal joint morphology	538	ATP7A	ORPHA:565
HP:0001367	Abnormal joint morphology	6557	SLC12A1	OMIM:601678
HP:0001367	Abnormal joint morphology	79577	CDC73	ORPHA:143
HP:0001367	Abnormal joint morphology	79577	CDC73	ORPHA:99880
HP:0001367	Abnormal joint morphology	79577	CDC73	ORPHA:99879
HP:0001367	Abnormal joint morphology	4854	NOTCH3	ORPHA:2591
HP:0001367	Abnormal joint morphology	5159	PDGFRB	ORPHA:2591
HP:0001367	Abnormal joint morphology	1175	AP2S1	OMIM:600740
HP:0001367	Abnormal joint morphology	486	FXYD2	OMIM:154020
HP:0001367	Abnormal joint morphology	3758	KCNJ1	OMIM:241200
HP:0001367	Abnormal joint morphology	4210	MEFV	ORPHA:329967
HP:0001367	Abnormal joint morphology	7132	TNFRSF1A	ORPHA:329967
HP:0001367	Abnormal joint morphology	249	ALPL	OMIM:146300
HP:0001367	Abnormal joint morphology	2767	GNA11	OMIM:145981
HP:0001367	Abnormal joint morphology	6559	SLC12A3	OMIM:263800
HP:0001367	Abnormal joint morphology	6559	SLC12A3	ORPHA:358
HP:0001367	Abnormal joint morphology	4221	MEN1	ORPHA:99879
HP:0001367	Abnormal joint morphology	9247	GCM2	ORPHA:99879
HP:0001367	Abnormal joint morphology	4000	LMNA	ORPHA:79474
HP:0001367	Abnormal joint morphology	540	ATP7B	OMIM:277900
HP:0001367	Abnormal joint morphology	7486	WRN	ORPHA:902
HP:0001367	Abnormal joint morphology	1188	CLCNKB	ORPHA:358
HP:0001367	Abnormal joint morphology	4982	TNFRSF11B	ORPHA:1416
HP:0001367	Abnormal joint morphology	56172	ANKH	ORPHA:1416
HP:0001367	Abnormal joint morphology	3373	HYAL1	OMIM:601492
HP:0001367	Abnormal joint morphology	55605	KIF21A	ORPHA:994
HP:0001367	Abnormal joint morphology	4927	NUP88	ORPHA:994
HP:0001367	Abnormal joint morphology	7846	TUBA1A	ORPHA:994
HP:0001367	Abnormal joint morphology	4654	MYOD1	ORPHA:994
HP:0001367	Abnormal joint morphology	54551	MAGEL2	ORPHA:994
HP:0001367	Abnormal joint morphology	4593	MUSK	ORPHA:994
HP:0001367	Abnormal joint morphology	5913	RAPSN	ORPHA:994
HP:0001367	Abnormal joint morphology	6572	SLC18A3	ORPHA:994
HP:0001367	Abnormal joint morphology	285489	DOK7	ORPHA:994
HP:0001367	Abnormal joint morphology	1146	CHRNG	OMIM:265000
HP:0001367	Abnormal joint morphology	1146	CHRNG	ORPHA:2990
HP:0001367	Abnormal joint morphology	3339	HSPG2	OMIM:224410
HP:0001367	Abnormal joint morphology	3339	HSPG2	ORPHA:1865
HP:0001367	Abnormal joint morphology	25885	POLR1A	OMIM:616462
HP:0001367	Abnormal joint morphology	55505	NOP10	OMIM:224230
HP:0001367	Abnormal joint morphology	55651	NHP2	OMIM:224230
HP:0001367	Abnormal joint morphology	4621	MYH3	ORPHA:2990
HP:0001367	Abnormal joint morphology	1736	DKC1	OMIM:305000
HP:0001367	Abnormal joint morphology	5352	PLOD2	ORPHA:2771
HP:0001367	Abnormal joint morphology	5352	PLOD2	OMIM:609220
HP:0001367	Abnormal joint morphology	60681	FKBP10	ORPHA:2771
HP:0001367	Abnormal joint morphology	60681	FKBP10	OMIM:259450
HP:0001367	Abnormal joint morphology	3655	ITGA6	ORPHA:79403
HP:0001367	Abnormal joint morphology	3691	ITGB4	ORPHA:79403
HP:0001367	Abnormal joint morphology	4313	MMP2	ORPHA:371428
HP:0001367	Abnormal joint morphology	4323	MMP14	ORPHA:371428
HP:0001367	Abnormal joint morphology	57538	ALPK3	OMIM:618052
HP:0001367	Abnormal joint morphology	54101	RIPK4	OMIM:263650
HP:0001367	Abnormal joint morphology	55640	FLVCR2	OMIM:225790
HP:0001367	Abnormal joint morphology	10082	GPC6	ORPHA:93329
HP:0001367	Abnormal joint morphology	2068	ERCC2	ORPHA:910
HP:0001367	Abnormal joint morphology	7507	XPA	ORPHA:910
HP:0001367	Abnormal joint morphology	2071	ERCC3	ORPHA:910
HP:0001367	Abnormal joint morphology	7508	XPC	ORPHA:910
HP:0001367	Abnormal joint morphology	1643	DDB2	ORPHA:910
HP:0001367	Abnormal joint morphology	2072	ERCC4	ORPHA:910
HP:0001367	Abnormal joint morphology	2073	ERCC5	ORPHA:910
HP:0001367	Abnormal joint morphology	26227	PHGDH	OMIM:256520
HP:0001367	Abnormal joint morphology	1947	EFNB1	OMIM:304110
HP:0001367	Abnormal joint morphology	1147	CHUK	OMIM:619339
HP:0001367	Abnormal joint morphology	57211	ADGRG6	OMIM:616503
HP:0001367	Abnormal joint morphology	5339	PLEC	OMIM:226730
HP:0001367	Abnormal joint morphology	6874	TAF4	OMIM:620450
HP:0001367	Abnormal joint morphology	5077	PAX3	OMIM:148820
HP:0001367	Abnormal joint morphology	51199	NIN	OMIM:614851
HP:0001367	Abnormal joint morphology	51199	NIN	ORPHA:319675
HP:0001367	Abnormal joint morphology	3549	IHH	OMIM:112500
HP:0001367	Abnormal joint morphology	3549	IHH	ORPHA:93388
HP:0001367	Abnormal joint morphology	8720	MBTPS1	OMIM:618392
HP:0001367	Abnormal joint morphology	55650	PIGV	OMIM:239300
HP:0001367	Abnormal joint morphology	3868	KRT16	ORPHA:2199
HP:0001367	Abnormal joint morphology	3857	KRT9	ORPHA:2199
HP:0001367	Abnormal joint morphology	3848	KRT1	ORPHA:2199
HP:0001367	Abnormal joint morphology	29895	MYL11	OMIM:619110
HP:0001367	Abnormal joint morphology	57863	CADM3	OMIM:619519
HP:0001367	Abnormal joint morphology	80208	SPG11	OMIM:616668
HP:0001367	Abnormal joint morphology	7138	TNNT1	OMIM:620386
HP:0001367	Abnormal joint morphology	825	CAPN3	ORPHA:267
HP:0001367	Abnormal joint morphology	388015	RTL1	ORPHA:254528
HP:0001367	Abnormal joint morphology	8788	DLK1	ORPHA:254528
HP:0001367	Abnormal joint morphology	55384	MEG3	ORPHA:254528
HP:0001367	Abnormal joint morphology	8449	DHX16	OMIM:618733
HP:0001367	Abnormal joint morphology	27145	FILIP1	OMIM:620775
HP:0001367	Abnormal joint morphology	203859	ANO5	ORPHA:206549
HP:0001367	Abnormal joint morphology	5781	PTPN11	OMIM:156250
HP:0001367	Abnormal joint morphology	1280	COL2A1	ORPHA:485
HP:0001367	Abnormal joint morphology	10436	EMG1	OMIM:211180
HP:0001367	Abnormal joint morphology	2690	GHR	OMIM:262500
HP:0001367	Abnormal joint morphology	5277	PIGA	OMIM:300868
HP:0001367	Abnormal joint morphology	114548	NLRP3	ORPHA:1451
HP:0001367	Abnormal joint morphology	9719	ADAMTSL2	ORPHA:1901
HP:0001367	Abnormal joint morphology	9509	ADAMTS2	ORPHA:1901
HP:0001367	Abnormal joint morphology	1302	COL11A2	ORPHA:1427
HP:0001367	Abnormal joint morphology	26123	TCTN3	ORPHA:2753
HP:0001367	Abnormal joint morphology	134218	DNAJC21	ORPHA:811
HP:0001367	Abnormal joint morphology	79631	EFL1	ORPHA:811
HP:0001367	Abnormal joint morphology	51119	SBDS	ORPHA:811
HP:0001367	Abnormal joint morphology	3417	IDH1	ORPHA:99646
HP:0001367	Abnormal joint morphology	26191	PTPN22	ORPHA:397
HP:0001367	Abnormal joint morphology	26191	PTPN22	ORPHA:85410
HP:0001367	Abnormal joint morphology	26191	PTPN22	ORPHA:85408
HP:0001367	Abnormal joint morphology	26191	PTPN22	ORPHA:536
HP:0001367	Abnormal joint morphology	26191	PTPN22	ORPHA:900
HP:0001367	Abnormal joint morphology	26191	PTPN22	OMIM:152700
HP:0001367	Abnormal joint morphology	3106	HLA-B	ORPHA:397
HP:0001367	Abnormal joint morphology	3106	HLA-B	ORPHA:29207
HP:0001367	Abnormal joint morphology	3106	HLA-B	ORPHA:3287
HP:0001367	Abnormal joint morphology	3106	HLA-B	ORPHA:117
HP:0001367	Abnormal joint morphology	3123	HLA-DRB1	ORPHA:397
HP:0001367	Abnormal joint morphology	3123	HLA-DRB1	ORPHA:85414
HP:0001367	Abnormal joint morphology	3123	HLA-DRB1	ORPHA:536
HP:0001367	Abnormal joint morphology	3123	HLA-DRB1	ORPHA:797
HP:0001367	Abnormal joint morphology	3123	HLA-DRB1	OMIM:181000
HP:0001367	Abnormal joint morphology	3123	HLA-DRB1	ORPHA:220393
HP:0001367	Abnormal joint morphology	8974	P4HA2	ORPHA:397
HP:0001367	Abnormal joint morphology	355	FAS	ORPHA:3261
HP:0001367	Abnormal joint morphology	355	FAS	ORPHA:117
HP:0001367	Abnormal joint morphology	356	FASLG	ORPHA:3261
HP:0001367	Abnormal joint morphology	843	CASP10	ORPHA:3261
HP:0001367	Abnormal joint morphology	144811	LACC1	ORPHA:85414
HP:0001367	Abnormal joint morphology	4282	MIF	ORPHA:85414
HP:0001367	Abnormal joint morphology	3569	IL6	ORPHA:85414
HP:0001367	Abnormal joint morphology	6775	STAT4	ORPHA:85410
HP:0001367	Abnormal joint morphology	6775	STAT4	ORPHA:93552
HP:0001367	Abnormal joint morphology	6775	STAT4	ORPHA:85408
HP:0001367	Abnormal joint morphology	6775	STAT4	ORPHA:536
HP:0001367	Abnormal joint morphology	6775	STAT4	ORPHA:117
HP:0001367	Abnormal joint morphology	3560	IL2RB	ORPHA:85410
HP:0001367	Abnormal joint morphology	3560	IL2RB	ORPHA:85408
HP:0001367	Abnormal joint morphology	79722	ANKRD55	ORPHA:85410
HP:0001367	Abnormal joint morphology	79722	ANKRD55	ORPHA:85408
HP:0001367	Abnormal joint morphology	919	CD247	ORPHA:85410
HP:0001367	Abnormal joint morphology	919	CD247	ORPHA:85408
HP:0001367	Abnormal joint morphology	3559	IL2RA	ORPHA:85410
HP:0001367	Abnormal joint morphology	3559	IL2RA	ORPHA:85408
HP:0001367	Abnormal joint morphology	5771	PTPN2	ORPHA:85410
HP:0001367	Abnormal joint morphology	5771	PTPN2	ORPHA:85408
HP:0001367	Abnormal joint morphology	4598	MVK	OMIM:260920
HP:0001367	Abnormal joint morphology	4598	MVK	ORPHA:343
HP:0001367	Abnormal joint morphology	5631	PRPS1	ORPHA:411543
HP:0001367	Abnormal joint morphology	5631	PRPS1	ORPHA:411536
HP:0001367	Abnormal joint morphology	4010	LMX1B	ORPHA:2614
HP:0001367	Abnormal joint morphology	4072	EPCAM	OMIM:613217
HP:0001367	Abnormal joint morphology	4072	EPCAM	ORPHA:92050
HP:0001367	Abnormal joint morphology	987	LRBA	OMIM:614700
HP:0001367	Abnormal joint morphology	3081	HGD	OMIM:203500
HP:0001367	Abnormal joint morphology	3081	HGD	ORPHA:56
HP:0001367	Abnormal joint morphology	6696	SPP1	ORPHA:93552
HP:0001367	Abnormal joint morphology	6696	SPP1	ORPHA:536
HP:0001367	Abnormal joint morphology	6303	SAT1	ORPHA:93552
HP:0001367	Abnormal joint morphology	3654	IRAK1	ORPHA:93552
HP:0001367	Abnormal joint morphology	3654	IRAK1	ORPHA:536
HP:0001367	Abnormal joint morphology	148738	HJV	OMIM:602390
HP:0001367	Abnormal joint morphology	50943	FOXP3	OMIM:304790
HP:0001367	Abnormal joint morphology	56983	POGLUT1	ORPHA:79145
HP:0001367	Abnormal joint morphology	3852	KRT5	ORPHA:79145
HP:0001367	Abnormal joint morphology	23509	POFUT1	ORPHA:79145
HP:0001367	Abnormal joint morphology	55851	PSENEN	ORPHA:79145
HP:0001367	Abnormal joint morphology	1776	DNASE1L3	ORPHA:36412
HP:0001367	Abnormal joint morphology	3248	HPGD	ORPHA:1525
HP:0001367	Abnormal joint morphology	3248	HPGD	ORPHA:2796
HP:0001367	Abnormal joint morphology	3248	HPGD	OMIM:259100
HP:0001367	Abnormal joint morphology	5896	RAG1	OMIM:601457
HP:0001367	Abnormal joint morphology	5897	RAG2	OMIM:601457
HP:0001367	Abnormal joint morphology	7317	UBA1	OMIM:301054
HP:0001367	Abnormal joint morphology	7018	TF	ORPHA:1195
HP:0001367	Abnormal joint morphology	81858	SHARPIN	OMIM:620795
HP:0001367	Abnormal joint morphology	3930	LBR	ORPHA:779
HP:0001367	Abnormal joint morphology	4952	OCRL	ORPHA:534
HP:0001367	Abnormal joint morphology	2215	FCGR3B	ORPHA:536
HP:0001367	Abnormal joint morphology	3684	ITGAM	ORPHA:536
HP:0001367	Abnormal joint morphology	3586	IL10	ORPHA:536
HP:0001367	Abnormal joint morphology	3586	IL10	ORPHA:117
HP:0001367	Abnormal joint morphology	221895	JAZF1	ORPHA:536
HP:0001367	Abnormal joint morphology	11277	TREX1	ORPHA:536
HP:0001367	Abnormal joint morphology	11277	TREX1	OMIM:152700
HP:0001367	Abnormal joint morphology	11277	TREX1	ORPHA:51
HP:0001367	Abnormal joint morphology	7292	TNFSF4	ORPHA:536
HP:0001367	Abnormal joint morphology	640	BLK	ORPHA:536
HP:0001367	Abnormal joint morphology	720	C4A	ORPHA:536
HP:0001367	Abnormal joint morphology	720	C4A	ORPHA:117
HP:0001367	Abnormal joint morphology	55024	BANK1	ORPHA:536
HP:0001367	Abnormal joint morphology	3500	IGHG1	ORPHA:536
HP:0001367	Abnormal joint morphology	1493	CTLA4	ORPHA:536
HP:0001367	Abnormal joint morphology	1493	CTLA4	OMIM:616100
HP:0001367	Abnormal joint morphology	1493	CTLA4	ORPHA:900
HP:0001367	Abnormal joint morphology	1493	CTLA4	OMIM:152700
HP:0001367	Abnormal joint morphology	1380	CR2	ORPHA:536
HP:0001367	Abnormal joint morphology	5133	PDCD1	ORPHA:536
HP:0001367	Abnormal joint morphology	2113	ETS1	ORPHA:536
HP:0001367	Abnormal joint morphology	2213	FCGR2B	ORPHA:536
HP:0001367	Abnormal joint morphology	2213	FCGR2B	OMIM:152700
HP:0001367	Abnormal joint morphology	10318	TNIP1	ORPHA:536
HP:0001367	Abnormal joint morphology	7332	UBE2L3	ORPHA:536
HP:0001367	Abnormal joint morphology	79932	KIAA0319L	ORPHA:536
HP:0001367	Abnormal joint morphology	4204	MECP2	ORPHA:536
HP:0001367	Abnormal joint morphology	3663	IRF5	ORPHA:536
HP:0001367	Abnormal joint morphology	3663	IRF5	ORPHA:220393
HP:0001367	Abnormal joint morphology	721	C4B	ORPHA:536
HP:0001367	Abnormal joint morphology	1773	DNASE1	ORPHA:536
HP:0001367	Abnormal joint morphology	1773	DNASE1	OMIM:152700
HP:0001367	Abnormal joint morphology	51284	TLR7	ORPHA:536
HP:0001367	Abnormal joint morphology	54899	PXK	ORPHA:536
HP:0001367	Abnormal joint morphology	7128	TNFAIP3	ORPHA:536
HP:0001367	Abnormal joint morphology	427	ASAH1	ORPHA:333
HP:0001367	Abnormal joint morphology	427	ASAH1	OMIM:228000
HP:0001367	Abnormal joint morphology	105371045	PERCC1	ORPHA:92050
HP:0001367	Abnormal joint morphology	10216	PRG4	OMIM:208250
HP:0001367	Abnormal joint morphology	3107	HLA-C	OMIM:177900
HP:0001367	Abnormal joint morphology	3423	IDS	ORPHA:217085
HP:0001367	Abnormal joint morphology	3423	IDS	ORPHA:217093
HP:0001367	Abnormal joint morphology	713	C1QB	OMIM:620321
HP:0001367	Abnormal joint morphology	1312	COMT	ORPHA:567
HP:0001367	Abnormal joint morphology	221037	JMJD1C	ORPHA:567
HP:0001367	Abnormal joint morphology	2812	GP1BB	ORPHA:567
HP:0001367	Abnormal joint morphology	6239	RREB1	ORPHA:567
HP:0001367	Abnormal joint morphology	6899	TBX1	ORPHA:567
HP:0001367	Abnormal joint morphology	7290	HIRA	ORPHA:567
HP:0001367	Abnormal joint morphology	9632	SEC24C	ORPHA:567
HP:0001367	Abnormal joint morphology	7353	UFD1	ORPHA:567
HP:0001367	Abnormal joint morphology	421	ARVCF	ORPHA:567
HP:0001367	Abnormal joint morphology	2717	GLA	ORPHA:324
HP:0001367	Abnormal joint morphology	6578	SLCO2A1	ORPHA:2796
HP:0001367	Abnormal joint morphology	2131	EXT1	ORPHA:321
HP:0001367	Abnormal joint morphology	2132	EXT2	ORPHA:321
HP:0001367	Abnormal joint morphology	64127	NOD2	OMIM:186580
HP:0001367	Abnormal joint morphology	64127	NOD2	OMIM:617321
HP:0001367	Abnormal joint morphology	64127	NOD2	ORPHA:90340
HP:0001367	Abnormal joint morphology	23230	VPS13A	ORPHA:2388
HP:0001367	Abnormal joint morphology	175	AGA	ORPHA:93
HP:0001367	Abnormal joint morphology	54	ACP5	ORPHA:1855
HP:0001367	Abnormal joint morphology	56244	BTNL2	ORPHA:797
HP:0001367	Abnormal joint morphology	9051	PSTPIP1	OMIM:604416
HP:0001367	Abnormal joint morphology	9051	PSTPIP1	ORPHA:69126
HP:0001367	Abnormal joint morphology	10804	GJB6	ORPHA:477
HP:0001367	Abnormal joint morphology	2706	GJB2	ORPHA:477
HP:0001367	Abnormal joint morphology	79784	MYH14	ORPHA:397744
HP:0001367	Abnormal joint morphology	5251	PHEX	ORPHA:89936
HP:0001367	Abnormal joint morphology	3236	HOXD10	OMIM:192950
HP:0001367	Abnormal joint morphology	5580	PRKCD	OMIM:615559
HP:0001367	Abnormal joint morphology	7454	WAS	ORPHA:906
HP:0001367	Abnormal joint morphology	7456	WIPF1	ORPHA:906
HP:0001367	Abnormal joint morphology	3115	HLA-DPB1	ORPHA:900
HP:0001367	Abnormal joint morphology	5657	PRTN3	ORPHA:900
HP:0001367	Abnormal joint morphology	3113	HLA-DPA1	ORPHA:900
HP:0001367	Abnormal joint morphology	6928	HNF1B	ORPHA:93111
HP:0001367	Abnormal joint morphology	5293	PIK3CD	ORPHA:221139
HP:0001367	Abnormal joint morphology	5293	PIK3CD	ORPHA:397596
HP:0001367	Abnormal joint morphology	5293	PIK3CD	OMIM:613328
HP:0001367	Abnormal joint morphology	90417	KNSTRN	ORPHA:221139
HP:0001367	Abnormal joint morphology	90417	KNSTRN	OMIM:613328
HP:0001367	Abnormal joint morphology	7036	TFR2	OMIM:604250
HP:0001367	Abnormal joint morphology	331	XIAP	ORPHA:538934
HP:0001367	Abnormal joint morphology	5728	PTEN	ORPHA:397596
HP:0001367	Abnormal joint morphology	5295	PIK3R1	ORPHA:397596
HP:0001367	Abnormal joint morphology	5295	PIK3R1	ORPHA:33110
HP:0001367	Abnormal joint morphology	130340	AP1S3	ORPHA:247353
HP:0001367	Abnormal joint morphology	26525	IL36RN	ORPHA:247353
HP:0001367	Abnormal joint morphology	1314	COPA	OMIM:616414
HP:0001367	Abnormal joint morphology	51816	ADA2	OMIM:615688
HP:0001367	Abnormal joint morphology	64135	IFIH1	OMIM:615846
HP:0001367	Abnormal joint morphology	64135	IFIH1	ORPHA:51
HP:0001367	Abnormal joint morphology	91662	NLRP12	OMIM:611762
HP:0001367	Abnormal joint morphology	2263	FGFR2	ORPHA:2363
HP:0001367	Abnormal joint morphology	2261	FGFR3	ORPHA:2363
HP:0001367	Abnormal joint morphology	2255	FGF10	ORPHA:2363
HP:0001367	Abnormal joint morphology	3662	IRF4	ORPHA:3452
HP:0001367	Abnormal joint morphology	695	BTK	ORPHA:47
HP:0001367	Abnormal joint morphology	5692	PSMB4	OMIM:617591
HP:0001367	Abnormal joint morphology	654	BMP6	ORPHA:465508
HP:0001367	Abnormal joint morphology	3077	HFE	ORPHA:465508
HP:0001367	Abnormal joint morphology	3593	IL12B	ORPHA:3287
HP:0001367	Abnormal joint morphology	6945	MLX	ORPHA:3287
HP:0001367	Abnormal joint morphology	3514	IGKC	ORPHA:183675
HP:0001367	Abnormal joint morphology	3501	IGHG2	ORPHA:183675
HP:0001367	Abnormal joint morphology	29110	TBK1	OMIM:620880
HP:0001367	Abnormal joint morphology	64241	ABCG8	OMIM:210250
HP:0001367	Abnormal joint morphology	6850	SYK	OMIM:619381
HP:0001367	Abnormal joint morphology	2000	ELF4	OMIM:301074
HP:0001367	Abnormal joint morphology	1186	CLCN7	ORPHA:53
HP:0001367	Abnormal joint morphology	205327	C2orf69	OMIM:619423
HP:0001367	Abnormal joint morphology	79875	THSD4	OMIM:619825
HP:0001367	Abnormal joint morphology	2212	FCGR2A	OMIM:152700
HP:0001367	Abnormal joint morphology	1235	CCR6	ORPHA:220393
HP:0001367	Abnormal joint morphology	1490	CCN2	ORPHA:220393
HP:0001367	Abnormal joint morphology	857	CAV1	ORPHA:220393
HP:0001367	Abnormal joint morphology	10535	RNASEH2A	ORPHA:51
HP:0001367	Abnormal joint morphology	84153	RNASEH2C	ORPHA:51
HP:0001367	Abnormal joint morphology	25939	SAMHD1	ORPHA:51
HP:0001367	Abnormal joint morphology	79621	RNASEH2B	ORPHA:51
HP:0001367	Abnormal joint morphology	103	ADAR	ORPHA:51
HP:0001367	Abnormal joint morphology	100147744	RNU7-1	ORPHA:51
HP:0001367	Abnormal joint morphology	134353	LSM11	ORPHA:51
HP:0001367	Abnormal joint morphology	165918	RNF168	ORPHA:420741
HP:0001367	Abnormal joint morphology	4067	LYN	OMIM:620376
HP:0001367	Abnormal joint morphology	6929	TCF3	ORPHA:33110
HP:0001367	Abnormal joint morphology	7922	SLC39A7	ORPHA:33110
HP:0001367	Abnormal joint morphology	973	CD79A	ORPHA:33110
HP:0001367	Abnormal joint morphology	974	CD79B	ORPHA:33110
HP:0001367	Abnormal joint morphology	6688	SPI1	ORPHA:33110
HP:0001367	Abnormal joint morphology	3543	IGLL1	ORPHA:33110
HP:0001367	Abnormal joint morphology	3507	IGHM	ORPHA:33110
HP:0001367	Abnormal joint morphology	29760	BLNK	ORPHA:33110
HP:0001367	Abnormal joint morphology	56262	LRRC8A	ORPHA:33110
HP:0001367	Abnormal joint morphology	149233	IL23R	ORPHA:117
HP:0001367	Abnormal joint morphology	1230	CCR1	ORPHA:117
HP:0001367	Abnormal joint morphology	3592	IL12A	ORPHA:117
HP:0001367	Abnormal joint morphology	101928376	IL12A-AS1	ORPHA:117
HP:0001367	Abnormal joint morphology	7099	TLR4	ORPHA:117
HP:0001367	Abnormal joint morphology	3459	IFNGR1	ORPHA:117
HP:0001367	Abnormal joint morphology	337867	UBAC2	ORPHA:117
HP:0001367	Abnormal joint morphology	51752	ERAP1	ORPHA:117
HP:0001367	Abnormal joint morphology	8302	KLRC4	ORPHA:117
HP:0001367	Abnormal joint morphology	2643	GCH1	ORPHA:98808
HP:0001367	Abnormal joint morphology	4929	NR4A2	ORPHA:98808
HP:0001367	Abnormal joint morphology	3615	IMPDH2	ORPHA:98808
HP:0001367	Abnormal joint morphology	2639	GCDH	ORPHA:25
HP:0001367	Abnormal joint morphology	5573	PRKAR1A	ORPHA:950
HP:0001367	Abnormal joint morphology	5144	PDE4D	ORPHA:950
HP:0001367	Abnormal joint morphology	7421	VDR	ORPHA:93160
HP:0001367	Abnormal joint morphology	11285	B4GALT7	OMIM:130070
HP:0001367	Abnormal joint morphology	716	C1S	OMIM:617174
HP:0001367	Abnormal joint morphology	5351	PLOD1	OMIM:225400
HP:0001367	Abnormal joint morphology	5351	PLOD1	ORPHA:1900
HP:0001367	Abnormal joint morphology	9401	RECQL4	ORPHA:221016
HP:0001367	Abnormal joint morphology	9401	RECQL4	OMIM:266280
HP:0001367	Abnormal joint morphology	652	BMP4	ORPHA:828
HP:0001367	Abnormal joint morphology	1836	SLC26A2	ORPHA:628
HP:0001367	Abnormal joint morphology	5885	RAD21	ORPHA:502
HP:0001367	Abnormal joint morphology	7227	TRPS1	ORPHA:502
HP:0001367	Abnormal joint morphology	113189	CHST14	OMIM:601776
HP:0001367	Abnormal joint morphology	6595	SMARCA2	ORPHA:3051
HP:0001367	Abnormal joint morphology	715	C1R	OMIM:130080
HP:0001367	Abnormal joint morphology	284058	KANSL1	ORPHA:363965
HP:0001367	Abnormal joint morphology	284058	KANSL1	ORPHA:363958
HP:0001367	Abnormal joint morphology	1278	COL1A2	ORPHA:230851
HP:0001367	Abnormal joint morphology	1278	COL1A2	OMIM:619120
HP:0001367	Abnormal joint morphology	1278	COL1A2	ORPHA:1899
HP:0001367	Abnormal joint morphology	1289	COL5A1	OMIM:130000
HP:0001367	Abnormal joint morphology	2317	FLNB	ORPHA:1190
HP:0001367	Abnormal joint morphology	55790	CSGALNACT1	OMIM:618870
HP:0001367	Abnormal joint morphology	8085	KMT2D	ORPHA:2322
HP:0001367	Abnormal joint morphology	8085	KMT2D	OMIM:147920
HP:0001367	Abnormal joint morphology	7403	KDM6A	ORPHA:2322
HP:0001367	Abnormal joint morphology	7403	KDM6A	OMIM:147920
HP:0001367	Abnormal joint morphology	124583	CANT1	OMIM:251450
HP:0001367	Abnormal joint morphology	26224	FBXL3	OMIM:606220
HP:0001367	Abnormal joint morphology	6748	SSR4	ORPHA:370927
HP:0001367	Abnormal joint morphology	6748	SSR4	OMIM:300934
HP:0001367	Abnormal joint morphology	23483	TGDS	OMIM:616145
HP:0001367	Abnormal joint morphology	9469	CHST3	OMIM:143095
HP:0001367	Abnormal joint morphology	9820	CUL7	OMIM:273750
HP:0001367	Abnormal joint morphology	404672	GTF2H5	ORPHA:33364
HP:0001367	Abnormal joint morphology	833	CARS1	ORPHA:33364
HP:0001367	Abnormal joint morphology	7737	RNF113A	ORPHA:33364
HP:0001367	Abnormal joint morphology	136647	MPLKIP	ORPHA:33364
HP:0001367	Abnormal joint morphology	6897	TARS1	ORPHA:33364
HP:0001367	Abnormal joint morphology	16	AARS1	ORPHA:33364
HP:0001367	Abnormal joint morphology	2961	GTF2E2	ORPHA:33364
HP:0001367	Abnormal joint morphology	10225	CD96	ORPHA:1308
HP:0001367	Abnormal joint morphology	64131	XYLT1	ORPHA:370930
HP:0001367	Abnormal joint morphology	1281	COL3A1	ORPHA:286
HP:0001367	Abnormal joint morphology	171023	ASXL1	ORPHA:97297
HP:0001367	Abnormal joint morphology	171023	ASXL1	OMIM:605039
HP:0001367	Abnormal joint morphology	2743	GLRB	ORPHA:3197
HP:0001367	Abnormal joint morphology	2741	GLRA1	ORPHA:3197
HP:0001367	Abnormal joint morphology	10243	GPHN	ORPHA:3197
HP:0001367	Abnormal joint morphology	84896	ATAD1	ORPHA:3197
HP:0001367	Abnormal joint morphology	9152	SLC6A5	ORPHA:3197
HP:0001367	Abnormal joint morphology	633	BGN	OMIM:300989
HP:0001367	Abnormal joint morphology	7543	ZFX	OMIM:301118
HP:0001367	Abnormal joint morphology	7046	TGFBR1	ORPHA:60030
HP:0001367	Abnormal joint morphology	10526	IPO8	ORPHA:60030
HP:0001367	Abnormal joint morphology	7048	TGFBR2	ORPHA:60030
HP:0001367	Abnormal joint morphology	7042	TGFB2	ORPHA:60030
HP:0001367	Abnormal joint morphology	7043	TGFB3	ORPHA:60030
HP:0001367	Abnormal joint morphology	4087	SMAD2	ORPHA:60030
HP:0001367	Abnormal joint morphology	4088	SMAD3	ORPHA:60030
HP:0001367	Abnormal joint morphology	1134	CHRNA1	OMIM:253290
HP:0001367	Abnormal joint morphology	1144	CHRND	OMIM:253290
HP:0001367	Abnormal joint morphology	8883	NAE1	OMIM:620210
HP:0001367	Abnormal joint morphology	165	AEBP1	ORPHA:536532
HP:0001367	Abnormal joint morphology	1277	COL1A1	ORPHA:1899
HP:0001367	Abnormal joint morphology	9361	LONP1	OMIM:600373
HP:0001367	Abnormal joint morphology	9361	LONP1	ORPHA:1458
HP:0001367	Abnormal joint morphology	64840	PORCN	OMIM:305600
HP:0001367	Abnormal joint morphology	6628	SNRPB	OMIM:117650
HP:0001367	Abnormal joint morphology	2138	EYA1	OMIM:113650
HP:0001367	Abnormal joint morphology	6495	SIX1	OMIM:113650
HP:0001367	Abnormal joint morphology	84627	ZNF469	OMIM:229200
HP:0001367	Abnormal joint morphology	5048	PAFAH1B1	ORPHA:217385
HP:0001367	Abnormal joint morphology	7531	YWHAE	ORPHA:217385
HP:0001367	Abnormal joint morphology	1131	CHRM3	ORPHA:2970
HP:0001367	Abnormal joint morphology	1131	CHRM3	OMIM:100100
HP:0001367	Abnormal joint morphology	10060	ABCC9	OMIM:619719
HP:0001367	Abnormal joint morphology	23545	ATP6V0A2	OMIM:219200
HP:0001367	Abnormal joint morphology	23545	ATP6V0A2	ORPHA:357074
HP:0001367	Abnormal joint morphology	23545	ATP6V0A2	ORPHA:2834
HP:0001367	Abnormal joint morphology	23545	ATP6V0A2	OMIM:278250
HP:0001367	Abnormal joint morphology	89910	UBE3B	OMIM:244450
HP:0001367	Abnormal joint morphology	60482	SLC5A7	ORPHA:98914
HP:0001367	Abnormal joint morphology	4649	MYO9A	ORPHA:98914
HP:0001367	Abnormal joint morphology	1305	COL13A1	ORPHA:98914
HP:0001367	Abnormal joint morphology	1103	CHAT	ORPHA:98914
HP:0001367	Abnormal joint morphology	6576	SLC25A1	ORPHA:98914
HP:0001367	Abnormal joint morphology	6843	VAMP1	ORPHA:98914
HP:0001367	Abnormal joint morphology	375790	AGRN	ORPHA:98914
HP:0001367	Abnormal joint morphology	127833	SYT2	ORPHA:98914
HP:0001367	Abnormal joint morphology	6616	SNAP25	ORPHA:98914
HP:0001367	Abnormal joint morphology	6904	TBCD	ORPHA:496641
HP:0001367	Abnormal joint morphology	529	ATP6V1E1	ORPHA:357074
HP:0001367	Abnormal joint morphology	5528	PPP2R5D	ORPHA:457279
HP:0001367	Abnormal joint morphology	5528	PPP2R5D	OMIM:616355
HP:0001367	Abnormal joint morphology	50814	NSDHL	OMIM:308050
HP:0001367	Abnormal joint morphology	50628	GEMIN4	OMIM:617913
HP:0001367	Abnormal joint morphology	7067	THRA	OMIM:614450
HP:0001367	Abnormal joint morphology	4035	LRP1	OMIM:620690
HP:0001367	Abnormal joint morphology	4882	NPR2	OMIM:602875
HP:0001367	Abnormal joint morphology	10274	STAG1	ORPHA:502434
HP:0001367	Abnormal joint morphology	83737	ITCH	OMIM:613385
HP:0001367	Abnormal joint morphology	2782	GNB1	OMIM:616973
HP:0001367	Abnormal joint morphology	6999	TDO2	OMIM:600627
HP:0001367	Abnormal joint morphology	55012	PPP2R3C	OMIM:618419
HP:0001367	Abnormal joint morphology	9244	CRLF1	OMIM:272430
HP:0001367	Abnormal joint morphology	368	ABCC6	ORPHA:51608
HP:0001367	Abnormal joint morphology	9663	LPIN2	OMIM:609628
HP:0001367	Abnormal joint morphology	6399	TRAPPC2	ORPHA:93284
HP:0001367	Abnormal joint morphology	90268	OTULIN	OMIM:617099
HP:0001367	Abnormal joint morphology	8838	CCN6	OMIM:208230
HP:0001367	Abnormal joint morphology	8838	CCN6	ORPHA:1159
HP:0001367	Abnormal joint morphology	7157	TP53	ORPHA:668
HP:0001367	Abnormal joint morphology	5925	RB1	ORPHA:668
HP:0001367	Abnormal joint morphology	11200	CHEK2	ORPHA:668
HP:0001367	Abnormal joint morphology	2243	FGA	ORPHA:98880
HP:0001367	Abnormal joint morphology	2244	FGB	ORPHA:98880
HP:0001367	Abnormal joint morphology	2266	FGG	ORPHA:98880
HP:0001367	Abnormal joint morphology	3557	IL1RN	OMIM:612852
HP:0001367	Abnormal joint morphology	2157	F8	ORPHA:169805
HP:0001367	Abnormal joint morphology	2157	F8	ORPHA:169802
HP:0001367	Abnormal joint morphology	6583	SLC22A4	OMIM:180300
HP:0001367	Abnormal joint morphology	4261	CIITA	OMIM:180300
HP:0001367	Abnormal joint morphology	51744	CD244	OMIM:180300
HP:0001367	Abnormal joint morphology	4795	NFKBIL1	OMIM:180300
HP:0001367	Abnormal joint morphology	83550	GPR101	ORPHA:963
HP:0001367	Abnormal joint morphology	9049	AIP	ORPHA:963
HP:0001367	Abnormal joint morphology	1290	COL5A2	ORPHA:287
HP:0001367	Abnormal joint morphology	4921	DDR2	OMIM:618175
HP:0001367	Abnormal joint morphology	2783	GNB2	OMIM:619503
HP:0001367	Abnormal joint morphology	2192	FBLN1	OMIM:608180
HP:0001367	Abnormal joint morphology	6299	SALL1	OMIM:107480
HP:0001367	Abnormal joint morphology	2324	FLT4	ORPHA:79452
HP:0001367	Abnormal joint morphology	9780	PIEZO1	ORPHA:79452
HP:0001367	Abnormal joint morphology	285	ANGPT2	ORPHA:79452
HP:0001367	Abnormal joint morphology	57165	GJC2	ORPHA:79452
HP:0001367	Abnormal joint morphology	51726	DNAJB11	OMIM:618061
HP:0001367	Abnormal joint morphology	3251	HPRT1	ORPHA:510
HP:0001367	Abnormal joint morphology	3251	HPRT1	ORPHA:79233
HP:0001367	Abnormal joint morphology	7369	UMOD	OMIM:162000
HP:0001367	Abnormal joint morphology	29927	SEC61A1	OMIM:617056
HP:0001367	Abnormal joint morphology	2538	G6PC1	OMIM:232200
HP:0001367	Abnormal joint morphology	5213	PFKM	OMIM:232800
HP:0001367	Abnormal joint morphology	150	ADRA2A	OMIM:620679
HP:0001367	Abnormal joint morphology	4582	MUC1	OMIM:174000
HP:0001367	Abnormal joint morphology	2542	SLC37A4	OMIM:232220
HP:0001367	Abnormal joint morphology	2542	SLC37A4	OMIM:232240
HP:0001367	Abnormal joint morphology	2542	SLC37A4	ORPHA:79259
HP:0001367	Abnormal joint morphology	348	APOE	ORPHA:412
HP:0001367	Abnormal joint morphology	2038	EPB42	ORPHA:822
HP:0001367	Abnormal joint morphology	6521	SLC4A1	ORPHA:822
HP:0001367	Abnormal joint morphology	6710	SPTB	ORPHA:822
HP:0001367	Abnormal joint morphology	6708	SPTA1	ORPHA:822
HP:0001367	Abnormal joint morphology	286	ANK1	ORPHA:822
HP:0001367	Abnormal joint morphology	4040	LRP6	OMIM:610947
HP:0001367	Abnormal joint morphology	1311	COMP	ORPHA:750
HP:0001367	Abnormal joint morphology	1311	COMP	OMIM:177170
HP:0001367	Abnormal joint morphology	1311	COMP	ORPHA:93308
HP:0001367	Abnormal joint morphology	4322	MMP13	OMIM:602111
HP:0001367	Abnormal joint morphology	176	ACAN	ORPHA:93283
HP:0001367	Abnormal joint morphology	176	ACAN	ORPHA:435804
HP:0001367	Abnormal joint morphology	3703	STT3A	OMIM:619714
HP:0001367	Abnormal joint morphology	10269	ZMPSTE24	ORPHA:740
HP:0001367	Abnormal joint morphology	1299	COL9A3	OMIM:600969
HP:0001367	Abnormal joint morphology	1299	COL9A3	ORPHA:166002
HP:0001367	Abnormal joint morphology	30061	SLC40A1	OMIM:606069
HP:0001367	Abnormal joint morphology	2778	GNAS	ORPHA:2762
HP:0001367	Abnormal joint morphology	1297	COL9A1	ORPHA:166002
HP:0001367	Abnormal joint morphology	1297	COL9A1	OMIM:614135
HP:0001367	Abnormal joint morphology	1298	COL9A2	ORPHA:166002
HP:0001367	Abnormal joint morphology	11117	EMILIN1	OMIM:620080
HP:0001367	Abnormal joint morphology	55325	UFSP2	ORPHA:2114
HP:0001367	Abnormal joint morphology	55325	UFSP2	OMIM:142669
HP:0001367	Abnormal joint morphology	57592	ZNF687	OMIM:616833
HP:0001367	Abnormal joint morphology	54829	ASPN	OMIM:607850
HP:0001367	Abnormal joint morphology	2629	GBA1	ORPHA:77259
HP:0001367	Abnormal joint morphology	950	SCARB2	ORPHA:77259
HP:0001367	Abnormal joint morphology	6335	SCN9A	ORPHA:970
HP:0001367	Abnormal joint morphology	65125	WNK1	ORPHA:970
HP:0001367	Abnormal joint morphology	54463	RETREG1	ORPHA:970
HP:0001367	Abnormal joint morphology	547	KIF1A	ORPHA:970
HP:0001367	Abnormal joint morphology	89970	RSPRY1	ORPHA:457395
HP:0001367	Abnormal joint morphology	23314	SATB2	ORPHA:251028
HP:0001367	Abnormal joint morphology	9496	TBX4	ORPHA:1509
HP:0001367	Abnormal joint morphology	8292	COLQ	ORPHA:98915
HP:0001367	Abnormal joint morphology	3913	LAMB2	ORPHA:98915
HP:0001367	Abnormal joint morphology	23204	ARL6IP1	ORPHA:401780
HP:0001367	Abnormal joint morphology	4123	MAN2C1	OMIM:619775
HP:0001367	Abnormal joint morphology	2892	GRIA3	ORPHA:364028
HP:0001367	Abnormal joint morphology	57479	PRR12	OMIM:619539
HP:0001367	Abnormal joint morphology	10973	ASCC3	OMIM:620700
HP:0001367	Abnormal joint morphology	285590	SH3PXD2B	ORPHA:137834
HP:0001367	Abnormal joint morphology	8936	WASF1	OMIM:618707
HP:0001367	Abnormal joint morphology	57192	MCOLN1	ORPHA:578
HP:0001367	Abnormal joint morphology	25923	ATL3	OMIM:615632
HP:0001367	Abnormal joint morphology	25923	ATL3	ORPHA:36386
HP:0001367	Abnormal joint morphology	8518	ELP1	OMIM:223900
HP:0001367	Abnormal joint morphology	10558	SPTLC1	ORPHA:36386
HP:0001367	Abnormal joint morphology	9517	SPTLC2	ORPHA:36386
HP:0001367	Abnormal joint morphology	51062	ATL1	ORPHA:36386
HP:0001367	Abnormal joint morphology	55703	POLR3B	OMIM:614381
HP:0001367	Abnormal joint morphology	10262	SF3B4	OMIM:154400
HP:0001367	Abnormal joint morphology	10054	UBA2	OMIM:619959
HP:0001367	Abnormal joint morphology	1291	COL6A1	ORPHA:75840
HP:0001367	Abnormal joint morphology	1291	COL6A1	OMIM:254090
HP:0001367	Abnormal joint morphology	1292	COL6A2	ORPHA:75840
HP:0001367	Abnormal joint morphology	1292	COL6A2	OMIM:620727
HP:0001367	Abnormal joint morphology	1293	COL6A3	ORPHA:75840
HP:0001367	Abnormal joint morphology	4784	NFIX	ORPHA:447980
HP:0001367	Abnormal joint morphology	6662	SOX9	ORPHA:140
HP:0001367	Abnormal joint morphology	6662	SOX9	OMIM:114290
HP:0001367	Abnormal joint morphology	4703	NEB	ORPHA:171436
HP:0001367	Abnormal joint morphology	10324	KLHL41	ORPHA:171436
HP:0001367	Abnormal joint morphology	56203	LMOD3	ORPHA:171436
HP:0001367	Abnormal joint morphology	1073	CFL2	ORPHA:171436
HP:0001367	Abnormal joint morphology	6536	SLC6A9	OMIM:617301
HP:0001367	Abnormal joint morphology	1717	DHCR7	ORPHA:818
HP:0001367	Abnormal joint morphology	1717	DHCR7	OMIM:270400
HP:0001367	Abnormal joint morphology	9915	ARNT2	OMIM:615926
HP:0001367	Abnormal joint morphology	79158	GNPTAB	OMIM:252500
HP:0001367	Abnormal joint morphology	79158	GNPTAB	ORPHA:576
HP:0001367	Abnormal joint morphology	4626	MYH8	ORPHA:3377
HP:0001367	Abnormal joint morphology	4626	MYH8	OMIM:158300
HP:0001367	Abnormal joint morphology	1351	COX8A	OMIM:619059
HP:0001367	Abnormal joint morphology	3899	AFF3	OMIM:619297
HP:0001367	Abnormal joint morphology	55699	IARS2	ORPHA:436174
HP:0001367	Abnormal joint morphology	55699	IARS2	OMIM:616007
HP:0001367	Abnormal joint morphology	672	BRCA1	ORPHA:84
HP:0001367	Abnormal joint morphology	10459	MAD2L2	ORPHA:84
HP:0001367	Abnormal joint morphology	7516	XRCC2	ORPHA:84
HP:0001367	Abnormal joint morphology	29089	UBE2T	ORPHA:84
HP:0001367	Abnormal joint morphology	675	BRCA2	ORPHA:84
HP:0001367	Abnormal joint morphology	55120	FANCL	ORPHA:84
HP:0001367	Abnormal joint morphology	2177	FANCD2	ORPHA:84
HP:0001367	Abnormal joint morphology	2175	FANCA	ORPHA:84
HP:0001367	Abnormal joint morphology	2187	FANCB	ORPHA:84
HP:0001367	Abnormal joint morphology	2187	FANCB	ORPHA:3412
HP:0001367	Abnormal joint morphology	2176	FANCC	ORPHA:84
HP:0001367	Abnormal joint morphology	2178	FANCE	ORPHA:84
HP:0001367	Abnormal joint morphology	2188	FANCF	ORPHA:84
HP:0001367	Abnormal joint morphology	2189	FANCG	ORPHA:84
HP:0001367	Abnormal joint morphology	5888	RAD51	ORPHA:84
HP:0001367	Abnormal joint morphology	5889	RAD51C	ORPHA:84
HP:0001367	Abnormal joint morphology	55159	RFWD3	ORPHA:84
HP:0001367	Abnormal joint morphology	83990	BRIP1	ORPHA:84
HP:0001367	Abnormal joint morphology	57697	FANCM	ORPHA:84
HP:0001367	Abnormal joint morphology	79728	PALB2	ORPHA:84
HP:0001367	Abnormal joint morphology	84464	SLX4	ORPHA:84
HP:0001367	Abnormal joint morphology	55215	FANCI	ORPHA:84
HP:0001367	Abnormal joint morphology	57531	HACE1	ORPHA:464282
HP:0001367	Abnormal joint morphology	57531	HACE1	OMIM:616756
HP:0001367	Abnormal joint morphology	9896	FIG4	ORPHA:3472
HP:0001367	Abnormal joint morphology	9896	FIG4	OMIM:216340
HP:0001367	Abnormal joint morphology	55697	VAC14	ORPHA:3472
HP:0001367	Abnormal joint morphology	22872	SEC31A	OMIM:618651
HP:0001367	Abnormal joint morphology	10682	EBP	ORPHA:35173
HP:0001367	Abnormal joint morphology	28514	DLL1	ORPHA:93926
HP:0001367	Abnormal joint morphology	28514	DLL1	ORPHA:93924
HP:0001367	Abnormal joint morphology	28514	DLL1	ORPHA:93925
HP:0001367	Abnormal joint morphology	28514	DLL1	ORPHA:220386
HP:0001367	Abnormal joint morphology	2253	FGF8	ORPHA:93926
HP:0001367	Abnormal joint morphology	2253	FGF8	ORPHA:93924
HP:0001367	Abnormal joint morphology	2253	FGF8	ORPHA:93925
HP:0001367	Abnormal joint morphology	2253	FGF8	ORPHA:220386
HP:0001367	Abnormal joint morphology	6496	SIX3	ORPHA:93926
HP:0001367	Abnormal joint morphology	6496	SIX3	ORPHA:93924
HP:0001367	Abnormal joint morphology	6496	SIX3	ORPHA:93925
HP:0001367	Abnormal joint morphology	6496	SIX3	ORPHA:220386
HP:0001367	Abnormal joint morphology	7050	TGIF1	ORPHA:93926
HP:0001367	Abnormal joint morphology	7050	TGIF1	ORPHA:93924
HP:0001367	Abnormal joint morphology	7050	TGIF1	ORPHA:93925
HP:0001367	Abnormal joint morphology	7050	TGIF1	ORPHA:220386
HP:0001367	Abnormal joint morphology	4838	NODAL	ORPHA:93926
HP:0001367	Abnormal joint morphology	4838	NODAL	ORPHA:93924
HP:0001367	Abnormal joint morphology	4838	NODAL	ORPHA:93925
HP:0001367	Abnormal joint morphology	4838	NODAL	ORPHA:220386
HP:0001367	Abnormal joint morphology	6469	SHH	ORPHA:93926
HP:0001367	Abnormal joint morphology	6469	SHH	ORPHA:93924
HP:0001367	Abnormal joint morphology	6469	SHH	ORPHA:93925
HP:0001367	Abnormal joint morphology	6469	SHH	ORPHA:220386
HP:0001367	Abnormal joint morphology	7546	ZIC2	ORPHA:93926
HP:0001367	Abnormal joint morphology	7546	ZIC2	ORPHA:93924
HP:0001367	Abnormal joint morphology	7546	ZIC2	ORPHA:93925
HP:0001367	Abnormal joint morphology	7546	ZIC2	ORPHA:220386
HP:0001367	Abnormal joint morphology	6491	STIL	ORPHA:93926
HP:0001367	Abnormal joint morphology	6491	STIL	ORPHA:93924
HP:0001367	Abnormal joint morphology	6491	STIL	ORPHA:93925
HP:0001367	Abnormal joint morphology	6491	STIL	ORPHA:220386
HP:0001367	Abnormal joint morphology	2619	GAS1	ORPHA:93926
HP:0001367	Abnormal joint morphology	2619	GAS1	ORPHA:93924
HP:0001367	Abnormal joint morphology	2619	GAS1	ORPHA:93925
HP:0001367	Abnormal joint morphology	2619	GAS1	ORPHA:220386
HP:0001367	Abnormal joint morphology	84976	DISP1	ORPHA:93926
HP:0001367	Abnormal joint morphology	84976	DISP1	ORPHA:93924
HP:0001367	Abnormal joint morphology	84976	DISP1	ORPHA:93925
HP:0001367	Abnormal joint morphology	84976	DISP1	ORPHA:220386
HP:0001367	Abnormal joint morphology	2736	GLI2	ORPHA:93926
HP:0001367	Abnormal joint morphology	2736	GLI2	ORPHA:93924
HP:0001367	Abnormal joint morphology	2736	GLI2	ORPHA:93925
HP:0001367	Abnormal joint morphology	2736	GLI2	ORPHA:220386
HP:0001367	Abnormal joint morphology	8928	FOXH1	ORPHA:93926
HP:0001367	Abnormal joint morphology	8928	FOXH1	ORPHA:93924
HP:0001367	Abnormal joint morphology	8928	FOXH1	ORPHA:93925
HP:0001367	Abnormal joint morphology	8928	FOXH1	ORPHA:220386
HP:0001367	Abnormal joint morphology	6997	CRIPTO	ORPHA:93926
HP:0001367	Abnormal joint morphology	6997	CRIPTO	ORPHA:93924
HP:0001367	Abnormal joint morphology	6997	CRIPTO	ORPHA:93925
HP:0001367	Abnormal joint morphology	6997	CRIPTO	ORPHA:220386
HP:0001367	Abnormal joint morphology	50937	CDON	ORPHA:93926
HP:0001367	Abnormal joint morphology	50937	CDON	ORPHA:93924
HP:0001367	Abnormal joint morphology	50937	CDON	ORPHA:93925
HP:0001367	Abnormal joint morphology	50937	CDON	ORPHA:220386
HP:0001367	Abnormal joint morphology	23007	PLCH1	ORPHA:93925
HP:0001367	Abnormal joint morphology	10735	STAG2	ORPHA:93925
HP:0001367	Abnormal joint morphology	10735	STAG2	ORPHA:220386
HP:0001367	Abnormal joint morphology	2697	GJA1	OMIM:164200
HP:0001367	Abnormal joint morphology	85301	COL27A1	OMIM:615155
HP:0001367	Abnormal joint morphology	3098	HK1	OMIM:618547
HP:0001367	Abnormal joint morphology	81031	SLC2A10	ORPHA:3342
HP:0001367	Abnormal joint morphology	145258	GSC	OMIM:602471
HP:0001367	Abnormal joint morphology	6558	SLC12A2	OMIM:619083
HP:0001367	Abnormal joint morphology	78989	COLEC11	OMIM:265050
HP:0001367	Abnormal joint morphology	78989	COLEC11	ORPHA:293843
HP:0001367	Abnormal joint morphology	23187	PHLDB1	OMIM:620639
HP:0001367	Abnormal joint morphology	7140	TNNT3	OMIM:618435
HP:0001367	Abnormal joint morphology	5832	ALDH18A1	OMIM:219150
HP:0001367	Abnormal joint morphology	5832	ALDH18A1	ORPHA:90348
HP:0001367	Abnormal joint morphology	5832	ALDH18A1	OMIM:616603
HP:0001367	Abnormal joint morphology	7030	TFE3	OMIM:301066
HP:0001367	Abnormal joint morphology	55681	SCYL2	ORPHA:1143
HP:0001367	Abnormal joint morphology	84570	COL25A1	ORPHA:1143
HP:0001367	Abnormal joint morphology	57222	ERGIC1	ORPHA:1143
HP:0001367	Abnormal joint morphology	7476	WNT7A	OMIM:276820
HP:0001367	Abnormal joint morphology	9939	RBM8A	ORPHA:3320
HP:0001367	Abnormal joint morphology	9939	RBM8A	OMIM:274000
HP:0001367	Abnormal joint morphology	9775	EIF4A3	OMIM:268305
HP:0001367	Abnormal joint morphology	81603	TRIM8	OMIM:619428
HP:0001367	Abnormal joint morphology	55906	ZC4H2	OMIM:301041
HP:0001367	Abnormal joint morphology	55906	ZC4H2	OMIM:314580
HP:0001367	Abnormal joint morphology	9759	HDAC4	OMIM:619797
HP:0001367	Abnormal joint morphology	56896	DPYSL5	OMIM:619435
HP:0001367	Abnormal joint morphology	579	NKX3-2	OMIM:613330
HP:0001367	Abnormal joint morphology	253738	EBF3	ORPHA:96148
HP:0001367	Abnormal joint morphology	90459	ERI1	OMIM:620663
HP:0001367	Abnormal joint morphology	90459	ERI1	OMIM:620662
HP:0001367	Abnormal joint morphology	79796	ALG9	OMIM:608776
HP:0001367	Abnormal joint morphology	55784	MCTP2	ORPHA:1596
HP:0001367	Abnormal joint morphology	5831	PYCR1	OMIM:614438
HP:0001367	Abnormal joint morphology	5831	PYCR1	ORPHA:2078
HP:0001367	Abnormal joint morphology	51010	EXOSC3	OMIM:614678
HP:0001367	Abnormal joint morphology	6263	RYR3	OMIM:620310
HP:0001367	Abnormal joint morphology	2067	ERCC1	OMIM:610758
HP:0001367	Abnormal joint morphology	23499	MACF1	ORPHA:572013
HP:0001367	Abnormal joint morphology	387119	CEP85L	ORPHA:572013
HP:0001367	Abnormal joint morphology	29925	GMPPB	ORPHA:370968
HP:0001367	Abnormal joint morphology	29954	POMT2	ORPHA:370968
HP:0001367	Abnormal joint morphology	29954	POMT2	OMIM:613156
HP:0001367	Abnormal joint morphology	10585	POMT1	ORPHA:370968
HP:0001367	Abnormal joint morphology	2530	FUT8	OMIM:618005
HP:0001367	Abnormal joint morphology	29920	PYCR2	ORPHA:481152
HP:0001367	Abnormal joint morphology	6678	SPARC	OMIM:616507
HP:0001367	Abnormal joint morphology	25778	DSTYK	ORPHA:101003
HP:0001367	Abnormal joint morphology	26175	LYSET	OMIM:619345
HP:0001367	Abnormal joint morphology	9451	EIF2AK3	OMIM:226980
HP:0001367	Abnormal joint morphology	545	ATR	OMIM:210600
HP:0001367	Abnormal joint morphology	64374	SIL1	ORPHA:559
HP:0001367	Abnormal joint morphology	55644	OSGEP	OMIM:617729
HP:0001367	Abnormal joint morphology	2313	FLI1	ORPHA:2308
HP:0001367	Abnormal joint morphology	57003	CCDC47	OMIM:618268
HP:0001367	Abnormal joint morphology	1861	TOR1A	OMIM:618947
HP:0001367	Abnormal joint morphology	23443	SLC35A3	OMIM:615553
HP:0001367	Abnormal joint morphology	23443	SLC35A3	ORPHA:370943
HP:0001367	Abnormal joint morphology	6608	SMO	OMIM:241800
HP:0001367	Abnormal joint morphology	4796	TONSL	ORPHA:93357
HP:0001367	Abnormal joint morphology	51360	MBTPS2	OMIM:308205
HP:0001367	Abnormal joint morphology	8239	USP9X	OMIM:300968
HP:0001367	Abnormal joint morphology	113246	C12orf57	OMIM:218340
HP:0001367	Abnormal joint morphology	92344	GORAB	ORPHA:2078
HP:0001367	Abnormal joint morphology	10584	COLEC10	ORPHA:293843
HP:0001367	Abnormal joint morphology	5648	MASP1	ORPHA:293843
HP:0001367	Abnormal joint morphology	23299	BICD2	OMIM:618291
HP:0001367	Abnormal joint morphology	523	ATP6V1A	OMIM:617403
HP:0001367	Abnormal joint morphology	3207	HOXA11	OMIM:605432
HP:0001367	Abnormal joint morphology	1497	CTNS	OMIM:219800
HP:0001367	Abnormal joint morphology	875	CBS	ORPHA:394
HP:0001367	Abnormal joint morphology	51256	TBC1D7	OMIM:248000
HP:0001367	Abnormal joint morphology	2972	BRF1	OMIM:616202
HP:0001367	Abnormal joint morphology	7360	UGP2	OMIM:618744
HP:0001367	Abnormal joint morphology	4125	MAN2B1	ORPHA:309282
HP:0001367	Abnormal joint morphology	3021	H3-3B	OMIM:619721
HP:0001367	Abnormal joint morphology	23322	RPGRIP1L	OMIM:611560
HP:0001367	Abnormal joint morphology	10686	CLDN16	OMIM:248250
HP:0001367	Abnormal joint morphology	7040	TGFB1	OMIM:131300
HP:0001367	Abnormal joint morphology	7040	TGFB1	ORPHA:1328
HP:0001367	Abnormal joint morphology	815	CAMK2A	OMIM:617798
HP:0001367	Abnormal joint morphology	83480	PUS3	ORPHA:488627
HP:0001367	Abnormal joint morphology	9839	ZEB2	ORPHA:261552
HP:0001367	Abnormal joint morphology	9839	ZEB2	ORPHA:261537
HP:0001367	Abnormal joint morphology	4359	MPZ	ORPHA:3115
HP:0001367	Abnormal joint morphology	1588	CYP19A1	ORPHA:91
HP:0001367	Abnormal joint morphology	3043	HBB	ORPHA:231214
HP:0001367	Abnormal joint morphology	3043	HBB	ORPHA:231226
HP:0001367	Abnormal joint morphology	5593	PRKG2	OMIM:619636
HP:0001367	Abnormal joint morphology	23162	MAPK8IP3	OMIM:618443
HP:0001367	Abnormal joint morphology	9394	HS6ST1	OMIM:614880
HP:0001367	Abnormal joint morphology	546	ATRX	OMIM:309580
HP:0001367	Abnormal joint morphology	55081	IFT57	OMIM:617927
HP:0001367	Abnormal joint morphology	865	CBFB	OMIM:620099
HP:0001367	Abnormal joint morphology	8600	TNFSF11	OMIM:259710
HP:0001367	Abnormal joint morphology	26160	IFT172	OMIM:615630
HP:0001367	Abnormal joint morphology	23394	ADNP	OMIM:615873
HP:0001367	Abnormal joint morphology	79903	NAA60	OMIM:620786
HP:0001367	Abnormal joint morphology	100033413	SNORD116-1	OMIM:176270
HP:0001367	Abnormal joint morphology	8924	HERC2	OMIM:176270
HP:0001367	Abnormal joint morphology	23742	NPAP1	OMIM:176270
HP:0001367	Abnormal joint morphology	338433	SNORD115-1	OMIM:176270
HP:0001367	Abnormal joint morphology	7681	MKRN3	OMIM:176270
HP:0001367	Abnormal joint morphology	145624	PWAR1	OMIM:176270
HP:0001367	Abnormal joint morphology	3653	IPW	OMIM:176270
HP:0001367	Abnormal joint morphology	791114	PWRN1	OMIM:176270
HP:0001367	Abnormal joint morphology	8882	ZPR1	OMIM:619321
HP:0001367	Abnormal joint morphology	137682	NDUFAF6	OMIM:618913
HP:0001367	Abnormal joint morphology	11145	PLAAT3	OMIM:620683
HP:0001367	Abnormal joint morphology	23111	SPART	ORPHA:101000
HP:0001367	Abnormal joint morphology	1954	MEGF8	ORPHA:65759
HP:0001367	Abnormal joint morphology	6711	SPTBN1	OMIM:619475
HP:0001367	Abnormal joint morphology	80152	CENPT	OMIM:618702
HP:0001367	Abnormal joint morphology	5184	PEPD	ORPHA:742
HP:0001367	Abnormal joint morphology	374879	ZNF699	OMIM:619488
HP:0001367	Abnormal joint morphology	10651	MTX2	OMIM:619127
HP:0001367	Abnormal joint morphology	8139	GAN	ORPHA:643
HP:0001367	Abnormal joint morphology	80169	CTC1	OMIM:612199
HP:0001367	Abnormal joint morphology	871	SERPINH1	OMIM:613848
HP:0001367	Abnormal joint morphology	6660	SOX5	ORPHA:313892
HP:0001367	Abnormal joint morphology	5727	PTCH1	ORPHA:377
HP:0001367	Abnormal joint morphology	5727	PTCH1	OMIM:109400
HP:0001367	Abnormal joint morphology	8643	PTCH2	ORPHA:377
HP:0001367	Abnormal joint morphology	51684	SUFU	ORPHA:377
HP:0001367	Abnormal joint morphology	2239	GPC4	ORPHA:373
HP:0001367	Abnormal joint morphology	2719	GPC3	ORPHA:373
HP:0001367	Abnormal joint morphology	79147	FKRP	OMIM:606612
HP:0001367	Abnormal joint morphology	79147	FKRP	OMIM:607155
HP:0001367	Abnormal joint morphology	2335	FN1	ORPHA:93315
HP:0001367	Abnormal joint morphology	29123	ANKRD11	ORPHA:2332
HP:0001367	Abnormal joint morphology	29123	ANKRD11	OMIM:148050
HP:0001367	Abnormal joint morphology	55191	NADSYN1	OMIM:618845
HP:0001367	Abnormal joint morphology	54499	TMCO1	OMIM:213980
HP:0001367	Abnormal joint morphology	4089	SMAD4	OMIM:139210
HP:0001367	Abnormal joint morphology	84667	HES7	OMIM:613686
HP:0001367	Abnormal joint morphology	57167	SALL4	ORPHA:959
HP:0001367	Abnormal joint morphology	7468	NSD2	OMIM:194190
HP:0001367	Abnormal joint morphology	10815	CPLX1	OMIM:194190
HP:0001367	Abnormal joint morphology	1487	CTBP1	OMIM:194190
HP:0001367	Abnormal joint morphology	53834	FGFRL1	OMIM:194190
HP:0001367	Abnormal joint morphology	3954	LETM1	OMIM:194190
HP:0001367	Abnormal joint morphology	4990	SIX6	OMIM:206900
HP:0001367	Abnormal joint morphology	6657	SOX2	OMIM:206900
HP:0001367	Abnormal joint morphology	6911	TBX6	OMIM:122600
HP:0001367	Abnormal joint morphology	145873	MESP2	OMIM:277300
HP:0001367	Abnormal joint morphology	10683	DLL3	OMIM:277300
HP:0001367	Abnormal joint morphology	10126	DNAL4	ORPHA:238722
HP:0001367	Abnormal joint morphology	9423	NTN1	ORPHA:238722
HP:0001367	Abnormal joint morphology	1630	DCC	ORPHA:238722
HP:0001367	Abnormal joint morphology	22943	DKK1	ORPHA:268882
HP:0001367	Abnormal joint morphology	1108	CHD4	OMIM:617159
HP:0001367	Abnormal joint morphology	51729	WBP11	OMIM:619227
HP:0001367	Abnormal joint morphology	4222	MEOX1	OMIM:214300
HP:0001367	Abnormal joint morphology	6424	SFRP4	OMIM:265900
HP:0001367	Abnormal joint morphology	157680	VPS13B	ORPHA:193
HP:0001367	Abnormal joint morphology	157680	VPS13B	OMIM:216550
HP:0001367	Abnormal joint morphology	8216	LZTR1	OMIM:616564
HP:0001367	Abnormal joint morphology	8216	LZTR1	OMIM:605275
HP:0001367	Abnormal joint morphology	54361	WNT4	ORPHA:247768
HP:0001367	Abnormal joint morphology	5828	PEX2	OMIM:614866
HP:0001367	Abnormal joint morphology	5894	RAF1	OMIM:611554
HP:0001367	Abnormal joint morphology	5894	RAF1	OMIM:611553
HP:0001367	Abnormal joint morphology	2254	FGF9	OMIM:612961
HP:0001367	Abnormal joint morphology	57122	NUP107	OMIM:618348
HP:0001367	Abnormal joint morphology	55027	HEATR3	OMIM:620072
HP:0001367	Abnormal joint morphology	5594	MAPK1	OMIM:619087
HP:0001367	Abnormal joint morphology	8450	CUL4B	ORPHA:85293
HP:0001367	Abnormal joint morphology	23529	CLCF1	OMIM:610313
HP:0001367	Abnormal joint morphology	55717	WDR11	OMIM:620237
HP:0001367	Abnormal joint morphology	5189	PEX1	OMIM:214100
HP:0001367	Abnormal joint morphology	4763	NF1	OMIM:601321
HP:0001367	Abnormal joint morphology	10940	POP1	OMIM:617396
HP:0001367	Abnormal joint morphology	8242	KDM5C	OMIM:300534
HP:0001367	Abnormal joint morphology	54496	PRMT7	OMIM:617157
HP:0001367	Abnormal joint morphology	92255	LMBRD2	OMIM:619694
HP:0001367	Abnormal joint morphology	80204	FBXO11	OMIM:618089
HP:0001367	Abnormal joint morphology	5605	MAP2K2	ORPHA:1340
HP:0001367	Abnormal joint morphology	444	ASPH	OMIM:601552
HP:0001367	Abnormal joint morphology	5566	PRKACA	ORPHA:289
HP:0001367	Abnormal joint morphology	2735	GLI1	ORPHA:289
HP:0001367	Abnormal joint morphology	2121	EVC	ORPHA:289
HP:0001367	Abnormal joint morphology	51626	DYNC2LI1	ORPHA:289
HP:0001367	Abnormal joint morphology	132884	EVC2	ORPHA:289
HP:0001367	Abnormal joint morphology	867	CBL	OMIM:613563
HP:0001367	Abnormal joint morphology	23395	LARS2	OMIM:615300
HP:0001367	Abnormal joint morphology	6736	SRY	ORPHA:1772
HP:0001367	Abnormal joint morphology	200734	SPRED2	OMIM:619745
HP:0001367	Abnormal joint morphology	6654	SOS1	OMIM:610733
HP:0001367	Abnormal joint morphology	1576	CYP3A4	OMIM:619073
HP:0001367	Abnormal joint morphology	284403	WDR62	OMIM:604317
HP:0001367	Abnormal joint morphology	4318	MMP9	OMIM:613073
HP:0001367	Abnormal joint morphology	6137	RPL13	OMIM:618728
HP:0001367	Abnormal joint morphology	9675	TTI1	OMIM:620445
HP:0001367	Abnormal joint morphology	5442	POLRMT	OMIM:619743
HP:0001367	Abnormal joint morphology	7291	TWIST1	ORPHA:794
HP:0001367	Abnormal joint morphology	7291	TWIST1	OMIM:101400
HP:0001367	Abnormal joint morphology	4091	SMAD6	OMIM:179300
HP:0001367	Abnormal joint morphology	6154	RPL26	OMIM:614900
HP:0001367	Abnormal joint morphology	2122	MECOM	ORPHA:71289
HP:0001367	Abnormal joint morphology	2122	MECOM	OMIM:616738
HP:0001367	Abnormal joint morphology	4094	MAF	ORPHA:1272
HP:0001367	Abnormal joint morphology	4094	MAF	OMIM:601088
HP:0001367	Abnormal joint morphology	29998	BICRA	OMIM:619325
HP:0001367	Abnormal joint morphology	1723	DHODH	OMIM:263750
HP:0001367	Abnormal joint morphology	51085	MLXIPL	OMIM:194050
HP:0001367	Abnormal joint morphology	50945	TBX22	OMIM:302905
HP:0001367	Abnormal joint morphology	50945	TBX22	ORPHA:921
HP:0001367	Abnormal joint morphology	22800	RRAS2	ORPHA:648
HP:0001367	Abnormal joint morphology	6016	RIT1	ORPHA:648
HP:0001367	Abnormal joint morphology	6237	RRAS	ORPHA:648
HP:0001367	Abnormal joint morphology	22808	MRAS	ORPHA:648
HP:0001367	Abnormal joint morphology	4893	NRAS	ORPHA:648
HP:0001367	Abnormal joint morphology	6655	SOS2	ORPHA:648
HP:0001367	Abnormal joint morphology	5922	RASA2	ORPHA:648
HP:0001367	Abnormal joint morphology	29980	DONSON	OMIM:617604
HP:0001367	Abnormal joint morphology	26040	SETBP1	ORPHA:798
HP:0001367	Abnormal joint morphology	83932	SPRTN	OMIM:616200
HP:0001367	Abnormal joint morphology	3714	JAG2	OMIM:619566
HP:0001367	Abnormal joint morphology	2010	EMD	OMIM:310300
HP:0001367	Abnormal joint morphology	2010	EMD	ORPHA:98863
HP:0001367	Abnormal joint morphology	8985	PLOD3	OMIM:612394
HP:0001367	Abnormal joint morphology	3908	LAMA2	OMIM:618138
HP:0001367	Abnormal joint morphology	84065	TMEM222	OMIM:619470
HP:0001367	Abnormal joint morphology	340419	RSPO2	OMIM:618022
HP:0001367	Abnormal joint morphology	2222	FDFT1	OMIM:618156
HP:0001367	Abnormal joint morphology	2799	GNS	OMIM:252940
HP:0001367	Abnormal joint morphology	1376	CPT2	OMIM:608836
HP:0001367	Abnormal joint morphology	339855	KY	OMIM:617114
HP:0001367	Abnormal joint morphology	5286	PIK3C2A	OMIM:618440
HP:0001367	Abnormal joint morphology	23219	FBXO28	OMIM:619777
HP:0001367	Abnormal joint morphology	64116	SLC39A8	ORPHA:468699
HP:0001367	Abnormal joint morphology	91137	SLC25A46	OMIM:619303
HP:0001367	Abnormal joint morphology	1756	DMD	ORPHA:206546
HP:0001367	Abnormal joint morphology	79188	TMEM43	ORPHA:98853
HP:0001367	Abnormal joint morphology	23224	SYNE2	ORPHA:98853
HP:0001367	Abnormal joint morphology	2137	EXTL3	ORPHA:508533
HP:0001367	Abnormal joint morphology	145173	B3GLCT	OMIM:261540
HP:0001367	Abnormal joint morphology	8815	BANF1	OMIM:614008
HP:0001367	Abnormal joint morphology	8291	DYSF	ORPHA:268
HP:0001367	Abnormal joint morphology	9427	ECEL1	OMIM:615065
HP:0001367	Abnormal joint morphology	3265	HRAS	OMIM:218040
HP:0001367	Abnormal joint morphology	50515	CHST11	OMIM:618167
HP:0001367	Abnormal joint morphology	2033	EP300	OMIM:180849
HP:0001367	Abnormal joint morphology	2033	EP300	ORPHA:353284
HP:0001367	Abnormal joint morphology	1387	CREBBP	OMIM:180849
HP:0001367	Abnormal joint morphology	1387	CREBBP	ORPHA:353277
HP:0001367	Abnormal joint morphology	1387	CREBBP	ORPHA:353281
HP:0001367	Abnormal joint morphology	23522	KAT6B	OMIM:606170
HP:0001367	Abnormal joint morphology	23522	KAT6B	OMIM:603736
HP:0001367	Abnormal joint morphology	7528	YY1	OMIM:617557
HP:0001367	Abnormal joint morphology	5290	PIK3CA	ORPHA:140944
HP:0001367	Abnormal joint morphology	91461	PKDCC	OMIM:618821
HP:0001367	Abnormal joint morphology	65267	WNK3	OMIM:309610
HP:0001367	Abnormal joint morphology	6812	STXBP1	ORPHA:495818
HP:0001367	Abnormal joint morphology	4853	NOTCH2	ORPHA:955
HP:0001367	Abnormal joint morphology	64327	LMBR1	ORPHA:2378
HP:0001367	Abnormal joint morphology	157570	ESCO2	ORPHA:2319
HP:0001367	Abnormal joint morphology	9935	MAFB	ORPHA:2774
HP:0001367	Abnormal joint morphology	207	AKT1	ORPHA:744
HP:0001367	Abnormal joint morphology	5447	POR	ORPHA:95699
HP:0001367	Abnormal joint morphology	9241	NOG	ORPHA:3250
HP:0001367	Abnormal joint morphology	8200	GDF5	ORPHA:3250
HP:0001367	Abnormal joint morphology	5718	PSMD12	ORPHA:529962
HP:0001367	Abnormal joint morphology	2186	BPTF	ORPHA:529962
HP:0001367	Abnormal joint morphology	1294	COL7A1	ORPHA:89843
HP:0001367	Abnormal joint morphology	6926	TBX3	ORPHA:3138
HP:0001367	Abnormal joint morphology	9131	AIFM1	ORPHA:83629
HP:0001367	Abnormal joint morphology	120227	CYP2R1	OMIM:600081
HP:0001367	Abnormal joint morphology	120227	CYP2R1	ORPHA:289157
HP:0001367	Abnormal joint morphology	1594	CYP27B1	OMIM:264700
HP:0001367	Abnormal joint morphology	1594	CYP27B1	ORPHA:289157
HP:0001367	Abnormal joint morphology	1184	CLCN5	OMIM:300554
HP:0001367	Abnormal joint morphology	1184	CLCN5	OMIM:300009
HP:0001367	Abnormal joint morphology	142680	SLC34A3	OMIM:241530
HP:0001367	Abnormal joint morphology	54681	P4HTM	ORPHA:436141
HP:0001367	Abnormal joint morphology	54808	DYM	ORPHA:239
HP:0001367	Abnormal joint morphology	4148	MATN3	ORPHA:156728
HP:0001367	Abnormal joint morphology	59341	TRPV4	OMIM:156530
HP:0001367	Abnormal joint morphology	59341	TRPV4	OMIM:184252
HP:0001367	Abnormal joint morphology	3977	LIFR	OMIM:601559
HP:0001367	Abnormal joint morphology	10847	SRCAP	ORPHA:2044
HP:0001367	Abnormal joint morphology	374654	KIF7	OMIM:607131
HP:0001367	Abnormal joint morphology	374654	KIF7	ORPHA:166024
HP:0001367	Abnormal joint morphology	1301	COL11A1	OMIM:604841
HP:0001367	Abnormal joint morphology	1777	DNASE2	OMIM:619858
HP:0001367	Abnormal joint morphology	3572	IL6ST	OMIM:618523
HP:0001367	Abnormal joint morphology	57817	HAMP	ORPHA:79230
HP:0001367	Abnormal joint morphology	4803	NGF	OMIM:608654
HP:0001367	Abnormal joint morphology	650	BMP2	OMIM:235200
HP:0001367	Abnormal joint morphology	56603	CYP26B1	OMIM:614416
HP:0001367	Abnormal joint morphology	23476	BRD4	ORPHA:199
HP:0001367	Abnormal joint morphology	9126	SMC3	ORPHA:199
HP:0001367	Abnormal joint morphology	8243	SMC1A	ORPHA:199
HP:0001367	Abnormal joint morphology	6878	TAF6	ORPHA:199
HP:0001367	Abnormal joint morphology	25836	NIPBL	ORPHA:199
HP:0001367	Abnormal joint morphology	55869	HDAC8	ORPHA:199
HP:0001367	Abnormal joint morphology	1857	DVL3	ORPHA:3107
HP:0001367	Abnormal joint morphology	7474	WNT5A	ORPHA:3107
HP:0001367	Abnormal joint morphology	1855	DVL1	ORPHA:3107
HP:0001367	Abnormal joint morphology	2535	FZD2	ORPHA:3107
HP:0001367	Abnormal joint morphology	2535	FZD2	ORPHA:93328
HP:0001367	Abnormal joint morphology	347734	SLC35B2	OMIM:620269
HP:0001367	Abnormal joint morphology	2201	FBN2	OMIM:121050
HP:0001367	Abnormal joint morphology	9555	MACROH2A1	ORPHA:1275
HP:0001367	Abnormal joint morphology	64359	NXN	ORPHA:1507
HP:0001367	Abnormal joint morphology	81620	CDT1	ORPHA:2554
HP:0001367	Abnormal joint morphology	5000	ORC4	ORPHA:2554
HP:0001367	Abnormal joint morphology	23594	ORC6	ORPHA:2554
HP:0001367	Abnormal joint morphology	8318	CDC45	ORPHA:2554
HP:0001367	Abnormal joint morphology	990	CDC6	ORPHA:2554
HP:0001367	Abnormal joint morphology	990	CDC6	OMIM:613805
HP:0001367	Abnormal joint morphology	51053	GMNN	ORPHA:2554
HP:0001367	Abnormal joint morphology	6910	TBX5	OMIM:142900
HP:0001367	Abnormal joint morphology	6473	SHOX	ORPHA:240
HP:0001367	Abnormal joint morphology	3187	HNRNPH1	OMIM:620083
HP:0001367	Abnormal joint morphology	54928	BPNT2	OMIM:614078
HP:0001367	Abnormal joint morphology	55636	CHD7	OMIM:214800
HP:0001367	Abnormal joint morphology	8642	DCHS1	OMIM:601390
HP:0001367	Abnormal joint morphology	23387	SIK3	OMIM:618162
HP:0001367	Abnormal joint morphology	57498	KIDINS220	OMIM:619501
HP:0001367	Abnormal joint morphology	5881	RAC3	OMIM:618577
HP:0001367	Abnormal joint morphology	259232	NALCN	ORPHA:1147
HP:0001367	Abnormal joint morphology	7136	TNNI2	ORPHA:1147
HP:0001367	Abnormal joint morphology	7136	TNNI2	OMIM:601680
HP:0001367	Abnormal joint morphology	79087	ALG12	ORPHA:79324
HP:0001367	Abnormal joint morphology	57688	ZSWIM6	ORPHA:1827
HP:0001367	Abnormal joint morphology	57688	ZSWIM6	OMIM:603671
HP:0001367	Abnormal joint morphology	55148	UBR7	OMIM:619189
HP:0001367	Abnormal joint morphology	78987	CRELD1	OMIM:620771
HP:0001367	Abnormal joint morphology	2554	GABRA1	ORPHA:33069
HP:0001367	Abnormal joint morphology	57526	PCDH19	ORPHA:33069
HP:0001367	Abnormal joint morphology	9203	ZMYM3	OMIM:301111
HP:0001367	Abnormal joint morphology	25839	COG4	OMIM:618150
HP:0001367	Abnormal joint morphology	3418	IDH2	ORPHA:296
HP:0001367	Abnormal joint morphology	9791	PTDSS1	ORPHA:2658
HP:0001367	Abnormal joint morphology	1182	CLCN3	OMIM:619512
HP:0001367	Abnormal joint morphology	57492	ARID1B	OMIM:135900
HP:0001367	Abnormal joint morphology	3897	L1CAM	OMIM:304100
HP:0001367	Abnormal joint morphology	649	BMP1	OMIM:614856
HP:0001367	Abnormal joint morphology	2200	FBN1	OMIM:154700
HP:0001367	Abnormal joint morphology	65992	DDRGK1	ORPHA:93352
HP:0001367	Abnormal joint morphology	4522	MTHFD1	OMIM:617780
HP:0001367	Abnormal joint morphology	4615	MYD88	OMIM:612260
HP:0001367	Abnormal joint morphology	5993	RFX5	OMIM:620816
HP:0001367	Abnormal joint morphology	3426	CFI	OMIM:610984
HP:0001367	Abnormal joint morphology	51135	IRAK4	OMIM:607676
HP:0001367	Abnormal joint morphology	341208	HEPHL1	OMIM:261990
HP:0001367	Abnormal joint morphology	79848	CSPP1	ORPHA:397715
HP:0001367	Abnormal joint morphology	9786	KIAA0586	ORPHA:397715
HP:0001367	Abnormal joint morphology	91147	TMEM67	ORPHA:140976
HP:0001367	Abnormal joint morphology	60561	RINT1	OMIM:618641
HP:0001367	Abnormal joint morphology	5176	SERPINF1	OMIM:613982
HP:0001367	Abnormal joint morphology	10491	CRTAP	OMIM:610682
HP:0001367	Abnormal joint morphology	153241	CEP120	OMIM:616300
HP:0001367	Abnormal joint morphology	54187	NANS	OMIM:610442
HP:0001367	Abnormal joint morphology	57539	WDR35	OMIM:614091
HP:0001367	Abnormal joint morphology	3636	INPPL1	OMIM:258480
HP:0001367	Abnormal joint morphology	9321	TRIP11	OMIM:184260
HP:0001367	Abnormal joint morphology	51098	IFT52	OMIM:617102
HP:0001367	Abnormal joint morphology	51025	PAM16	OMIM:613320
HP:0001367	Abnormal joint morphology	23169	SLC35D1	OMIM:269250
HP:0001367	Abnormal joint morphology	9382	COG1	ORPHA:263508
HP:0001367	Abnormal joint morphology	2879	GPX4	OMIM:250220
HP:0001367	Abnormal joint morphology	50485	SMARCAL1	ORPHA:1830
HP:0001367	Abnormal joint morphology	50485	SMARCAL1	OMIM:242900
HP:0001367	Abnormal joint morphology	9653	HS2ST1	OMIM:619194
HP:0001367	Abnormal joint morphology	274	BIN1	ORPHA:169186
HP:0001367	Abnormal joint morphology	10290	SPEG	ORPHA:169186
HP:0001367	Abnormal joint morphology	10290	SPEG	OMIM:615959
HP:0001367	Abnormal joint morphology	7273	TTN	ORPHA:169186
HP:0001367	Abnormal joint morphology	57190	SELENON	ORPHA:97244
HP:0001367	Abnormal joint morphology	57190	SELENON	ORPHA:2020
HP:0001367	Abnormal joint morphology	9894	TELO2	ORPHA:488642
HP:0001367	Abnormal joint morphology	285175	UNC80	OMIM:616801
HP:0001367	Abnormal joint morphology	285175	UNC80	ORPHA:371364
HP:0001367	Abnormal joint morphology	84992	PIGY	OMIM:616809
HP:0001367	Abnormal joint morphology	64324	NSD1	ORPHA:821
HP:0001367	Abnormal joint morphology	10297	APC2	ORPHA:821
HP:0001367	Abnormal joint morphology	11160	ERLIN2	ORPHA:209951
HP:0001367	Abnormal joint morphology	2617	GARS1	OMIM:619042
HP:0001367	Abnormal joint morphology	26137	ZBTB20	OMIM:259050
HP:0001367	Abnormal joint morphology	26137	ZBTB20	ORPHA:3042
HP:0001367	Abnormal joint morphology	8443	GNPAT	OMIM:222765
HP:0001367	Abnormal joint morphology	163175	LGI4	OMIM:617468
HP:0001367	Abnormal joint morphology	4773	NFATC2	OMIM:620232
HP:0001367	Abnormal joint morphology	1161	ERCC8	OMIM:216400
HP:0001367	Abnormal joint morphology	6329	SCN4A	OMIM:620351
HP:0001367	Abnormal joint morphology	6329	SCN4A	OMIM:620369
HP:0001367	Abnormal joint morphology	87178	PNPT1	ORPHA:319514
HP:0001367	Abnormal joint morphology	4633	MYL2	ORPHA:2020
HP:0001367	Abnormal joint morphology	3679	ITGA7	ORPHA:2020
HP:0001367	Abnormal joint morphology	9200	HACD1	ORPHA:2020
HP:0001367	Abnormal joint morphology	7170	TPM3	ORPHA:2020
HP:0001367	Abnormal joint morphology	51776	MAP3K20	ORPHA:2020
HP:0001367	Abnormal joint morphology	5297	PI4KA	OMIM:619621
HP:0001367	Abnormal joint morphology	4632	MYL1	OMIM:618414
HP:0001367	Abnormal joint morphology	3911	LAMA5	OMIM:620076
HP:0001367	Abnormal joint morphology	411	ARSB	OMIM:253200
HP:0001367	Abnormal joint morphology	7547	ZIC3	OMIM:306955
HP:0001367	Abnormal joint morphology	10992	SF3B2	OMIM:164210
HP:0001367	Abnormal joint morphology	2720	GLB1	OMIM:253010
HP:0001367	Abnormal joint morphology	2588	GALNS	OMIM:253000
HP:0001367	Abnormal joint morphology	6023	RMRP	OMIM:607095
HP:0001367	Abnormal joint morphology	8567	MADD	OMIM:619004
HP:0001367	Abnormal joint morphology	415	ARSL	ORPHA:79345
HP:0001367	Abnormal joint morphology	375	ARF1	ORPHA:98892
HP:0001367	Abnormal joint morphology	4131	MAP1B	ORPHA:98892
HP:0001367	Abnormal joint morphology	23327	NEDD4L	ORPHA:98892
HP:0001367	Abnormal joint morphology	160418	TMTC3	ORPHA:98892
HP:0001367	Abnormal joint morphology	10564	ARFGEF2	ORPHA:98892
HP:0001367	Abnormal joint morphology	55780	ERMARD	ORPHA:98892
HP:0001367	Abnormal joint morphology	55768	NGLY1	ORPHA:404454
HP:0001367	Abnormal joint morphology	22827	PUF60	ORPHA:508498
HP:0001367	Abnormal joint morphology	2887	GRB10	ORPHA:96182
HP:0001367	Abnormal joint morphology	7021	TFAP2B	ORPHA:46627
HP:0001367	Abnormal joint morphology	29072	SETD2	OMIM:616831
HP:0001367	Abnormal joint morphology	23592	LEMD3	ORPHA:166119
HP:0001367	Abnormal joint morphology	10568	SLC34A2	ORPHA:60025
HP:0001367	Abnormal joint morphology	55252	ASXL2	OMIM:617190
HP:0001367	Abnormal joint morphology	55870	ASH1L	OMIM:617796
HP:0001367	Abnormal joint morphology	7862	BRPF1	OMIM:617333
HP:0001367	Abnormal joint morphology	84700	MYO18B	OMIM:616549
HP:0001367	Abnormal joint morphology	1009	CDH11	OMIM:211380
HP:0001367	Abnormal joint morphology	5119	CHMP1A	OMIM:614961
HP:0001367	Abnormal joint morphology	1788	DNMT3A	OMIM:615879
HP:0001367	Abnormal joint morphology	25782	RAB3GAP2	OMIM:212720
HP:0001367	Abnormal joint morphology	112755	STX1B	ORPHA:36387
HP:0001367	Abnormal joint morphology	2563	GABRD	ORPHA:36387
HP:0001367	Abnormal joint morphology	6326	SCN2A	ORPHA:36387
HP:0001367	Abnormal joint morphology	112476	PRRT2	ORPHA:36387
HP:0001367	Abnormal joint morphology	6323	SCN1A	ORPHA:36387
HP:0001367	Abnormal joint morphology	6324	SCN1B	ORPHA:36387
HP:0001367	Abnormal joint morphology	348980	HCN1	ORPHA:36387
HP:0001367	Abnormal joint morphology	2258	FGF13	ORPHA:36387
HP:0001367	Abnormal joint morphology	84059	ADGRV1	ORPHA:36387
HP:0001367	Abnormal joint morphology	2566	GABRG2	ORPHA:36387
HP:0001367	Abnormal joint morphology	6261	RYR1	ORPHA:178145
HP:0001367	Abnormal joint morphology	79989	IFT56	OMIM:619534
HP:0001367	Abnormal joint morphology	84068	SLC10A7	OMIM:618363
HP:0001367	Abnormal joint morphology	10586	MAB21L2	OMIM:615877
HP:0001367	Abnormal joint morphology	5567	PRKACB	OMIM:619143
HP:0001367	Abnormal joint morphology	126792	B3GALT6	ORPHA:536467
HP:0001367	Abnormal joint morphology	3835	KIF22	OMIM:603546
HP:0001367	Abnormal joint morphology	3209	HOXA13	ORPHA:2438
HP:0001367	Abnormal joint morphology	64240	ABCG5	ORPHA:2882
HP:0001367	Abnormal joint morphology	51305	KCNK9	ORPHA:166108
HP:0001367	Abnormal joint morphology	23345	SYNE1	ORPHA:319332
HP:0001367	Abnormal joint morphology	2165	F13B	ORPHA:331
HP:0001367	Abnormal joint morphology	2162	F13A1	ORPHA:331
HP:0001367	Abnormal joint morphology	2162	F13A1	OMIM:613225
HP:0001367	Abnormal joint morphology	2159	F10	OMIM:227600
HP:0001367	Abnormal joint morphology	2159	F10	ORPHA:328
HP:0001367	Abnormal joint morphology	5345	SERPINF2	OMIM:262850
HP:0001367	Abnormal joint morphology	5345	SERPINF2	ORPHA:79
HP:0001367	Abnormal joint morphology	7450	VWF	OMIM:193400
HP:0001367	Abnormal joint morphology	7450	VWF	OMIM:277480
HP:0001367	Abnormal joint morphology	2155	F7	OMIM:227500
HP:0001367	Abnormal joint morphology	2155	F7	ORPHA:327
HP:0001367	Abnormal joint morphology	2677	GGCX	OMIM:277450
HP:0001367	Abnormal joint morphology	2147	F2	OMIM:613679
HP:0001367	Abnormal joint morphology	2147	F2	ORPHA:325
HP:0001367	Abnormal joint morphology	2160	F11	ORPHA:329
HP:0001367	Abnormal joint morphology	2153	F5	ORPHA:326
HP:0001367	Abnormal joint morphology	2158	F9	OMIM:306900
HP:0001367	Abnormal joint morphology	5054	SERPINE1	ORPHA:465
HP:0001367	Abnormal joint morphology	3998	LMAN1	ORPHA:35909
HP:0001367	Abnormal joint morphology	90411	MCFD2	ORPHA:35909
HP:0001367	Abnormal joint morphology	5328	PLAU	OMIM:601709
HP:0001367	Abnormal joint morphology	7020	TFAP2A	OMIM:113620
HP:0001367	Abnormal joint morphology	51082	POLR1D	OMIM:613717
HP:0001367	Abnormal joint morphology	84265	POLR3GL	OMIM:619234
HP:0001367	Abnormal joint morphology	1123	CHN1	ORPHA:233
HP:0001367	Abnormal joint morphology	9573	GDF3	ORPHA:2345
HP:0001367	Abnormal joint morphology	392255	GDF6	ORPHA:2345
HP:0001367	Abnormal joint morphology	392255	GDF6	OMIM:118100
HP:0001367	Abnormal joint morphology	168667	BMPER	ORPHA:66637
HP:0001367	Abnormal joint morphology	2245	FGD1	ORPHA:915
HP:0001367	Abnormal joint morphology	81839	VANGL1	ORPHA:3027
HP:0001367	Abnormal joint morphology	80199	FUZ	ORPHA:3027
HP:0001367	Abnormal joint morphology	3798	KIF5A	ORPHA:100991
HP:0001367	Abnormal joint morphology	64421	DCLRE1C	ORPHA:275
HP:0001367	Abnormal joint morphology	139818	DOCK11	OMIM:301109
HP:0001367	Abnormal joint morphology	22861	NLRP1	OMIM:617388
HP:0001367	Abnormal joint morphology	6774	STAT3	OMIM:615952
HP:0001367	Abnormal joint morphology	8823	FGF16	OMIM:309630
HP:0001367	Abnormal joint morphology	7994	KAT6A	OMIM:616268
HP:0001367	Abnormal joint morphology	83452	RAB33B	OMIM:615222
HP:0001367	Abnormal joint morphology	80207	OPA3	ORPHA:67036
HP:0001367	Abnormal joint morphology	4054	LTBP3	OMIM:617809
HP:0001367	Abnormal joint morphology	10020	GNE	ORPHA:602
HP:0001367	Abnormal joint morphology	9499	MYOT	ORPHA:266
HP:0001367	Abnormal joint morphology	23141	ANKLE2	OMIM:616681
HP:0001367	Abnormal joint morphology	8506	CNTNAP1	OMIM:616286
HP:0001367	Abnormal joint morphology	170689	ADAMTS15	OMIM:620545
HP:0001367	Abnormal joint morphology	51506	UFC1	OMIM:618076
HP:0001367	Abnormal joint morphology	2673	GFPT1	ORPHA:353327
HP:0001367	Abnormal joint morphology	1798	DPAGT1	ORPHA:353327
HP:0001367	Abnormal joint morphology	85365	ALG2	ORPHA:353327
HP:0001367	Abnormal joint morphology	85365	ALG2	OMIM:616228
HP:0001367	Abnormal joint morphology	199857	ALG14	ORPHA:353327
HP:0001367	Abnormal joint morphology	23321	TRIM2	OMIM:615490
HP:0001367	Abnormal joint morphology	29968	PSAT1	ORPHA:284417
HP:0001367	Abnormal joint morphology	79644	SRD5A3	OMIM:612713
HP:0001367	Abnormal joint morphology	6811	STX5	OMIM:620454
HP:0001367	Abnormal joint morphology	9531	BAG3	OMIM:612954
HP:0001367	Abnormal joint morphology	25914	RTTN	ORPHA:468631
HP:0001367	Abnormal joint morphology	6134	RPL10	ORPHA:435938
HP:0001367	Abnormal joint morphology	83636	C19orf12	OMIM:615043
HP:0001367	Abnormal joint morphology	5296	PIK3R2	OMIM:603387
HP:0001367	Abnormal joint morphology	8813	DPM1	OMIM:608799
HP:0001367	Abnormal joint morphology	8813	DPM1	ORPHA:79322
HP:0001367	Abnormal joint morphology	6389	SDHA	ORPHA:3208
HP:0001367	Abnormal joint morphology	6390	SDHB	ORPHA:3208
HP:0001367	Abnormal joint morphology	6392	SDHD	ORPHA:3208
HP:0001367	Abnormal joint morphology	644096	SDHAF1	ORPHA:3208
HP:0001367	Abnormal joint morphology	1140	CHRNB1	OMIM:616313
HP:0001367	Abnormal joint morphology	2318	FLNC	ORPHA:63273
HP:0001367	Abnormal joint morphology	4233	MET	OMIM:620019
HP:0001367	Abnormal joint morphology	387733	IFITM5	OMIM:610967
HP:0001367	Abnormal joint morphology	9927	MFN2	ORPHA:99947
HP:0001367	Abnormal joint morphology	1605	DAG1	OMIM:613818
HP:0001367	Abnormal joint morphology	1605	DAG1	ORPHA:280333
HP:0001367	Abnormal joint morphology	6442	SGCA	OMIM:608099
HP:0001367	Abnormal joint morphology	55958	KLHL9	ORPHA:399081
HP:0001367	Abnormal joint morphology	84876	ORAI1	OMIM:615883
HP:0001367	Abnormal joint morphology	26092	TOR1AIP1	OMIM:617072
HP:0001367	Abnormal joint morphology	210	ALAD	ORPHA:100924
HP:0001367	Abnormal joint morphology	513	ATP5F1D	OMIM:618120
HP:0001367	Abnormal joint morphology	497661	C18orf32	OMIM:619985
HP:0001367	Abnormal joint morphology	7407	VARS1	OMIM:617802
HP:0001367	Abnormal joint morphology	658	BMPR1B	ORPHA:2639
HP:0001367	Abnormal joint morphology	658	BMPR1B	ORPHA:2098
HP:0001367	Abnormal joint morphology	658	BMPR1B	OMIM:609441
HP:0001367	Abnormal joint morphology	8195	MKKS	ORPHA:2473
HP:0001367	Abnormal joint morphology	8481	OFD1	ORPHA:2750
HP:0001367	Abnormal joint morphology	267010	RNU12	ORPHA:85199
HP:0001367	Abnormal joint morphology	57477	SHROOM4	ORPHA:85288
HP:0001367	Abnormal joint morphology	8218	CLTCL1	ORPHA:453510
HP:0001367	Abnormal joint morphology	10717	AP4B1	ORPHA:280763
HP:0001367	Abnormal joint morphology	10717	AP4B1	OMIM:614066
HP:0001367	Abnormal joint morphology	9179	AP4M1	ORPHA:280763
HP:0001367	Abnormal joint morphology	11154	AP4S1	ORPHA:280763
HP:0001367	Abnormal joint morphology	23431	AP4E1	ORPHA:280763
HP:0001367	Abnormal joint morphology	2990	GUSB	OMIM:253220
HP:0001367	Abnormal joint morphology	4897	NRCAM	OMIM:619833
HP:0001367	Abnormal joint morphology	8546	AP3B1	OMIM:608233
HP:0001367	Abnormal joint morphology	29928	TIMM22	OMIM:618851
HP:0001367	Abnormal joint morphology	6210	RPS15A	OMIM:618313
HP:0001367	Abnormal joint morphology	65082	VPS33A	OMIM:617303
HP:0001367	Abnormal joint morphology	1300	COL10A1	OMIM:156500
HP:0001367	Abnormal joint morphology	153642	ARSK	OMIM:619698
HP:0001367	Abnormal joint morphology	2487	FRZB	OMIM:165720
HP:0001367	Abnormal joint morphology	51114	ZDHHC9	OMIM:300799
HP:0001367	Abnormal joint morphology	219854	TMEM218	OMIM:619562
HP:0001367	Abnormal joint morphology	23291	FBXW11	OMIM:618914
HP:0001367	Abnormal joint morphology	79912	PYROXD1	OMIM:617258
HP:0001367	Abnormal joint morphology	9757	KMT2B	OMIM:619934
HP:0001367	Abnormal joint morphology	3720	JARID2	OMIM:620098
HP:0001367	Abnormal joint morphology	10765	KDM5B	OMIM:618109
HP:0001367	Abnormal joint morphology	10093	ARPC4	OMIM:620141
HP:0001367	Abnormal joint morphology	25942	SIN3A	OMIM:613406
HP:0001367	Abnormal joint morphology	11011	TLK2	OMIM:618050
HP:0001367	Abnormal joint morphology	6909	TBX2	OMIM:618223
HP:0001367	Abnormal joint morphology	80816	ASXL3	OMIM:615485
HP:0001367	Abnormal joint morphology	81857	MED25	ORPHA:464738
HP:0001367	Abnormal joint morphology	2074	ERCC6	OMIM:214150
HP:0001367	Abnormal joint morphology	1718	DHCR24	OMIM:602398
HP:0001367	Abnormal joint morphology	10466	COG5	ORPHA:263487
HP:0001367	Abnormal joint morphology	54880	BCOR	OMIM:309800
HP:0001367	Abnormal joint morphology	8260	NAA10	OMIM:309800
HP:0001367	Abnormal joint morphology	2737	GLI3	OMIM:175700
HP:0001367	Abnormal joint morphology	1001	CDH3	OMIM:225280
HP:0001367	Abnormal joint morphology	9231	DLG5	OMIM:620703
HP:0001367	Abnormal joint morphology	84942	WDR73	OMIM:251300
HP:0001367	Abnormal joint morphology	5830	PEX5	OMIM:214110
HP:0001367	Abnormal joint morphology	1303	COL12A1	ORPHA:536516
HP:0001367	Abnormal joint morphology	91179	SCARF2	OMIM:600920
HP:0001367	Abnormal joint morphology	51715	RAB23	OMIM:201000
HP:0001367	Abnormal joint morphology	113179	ADAT3	ORPHA:363528
HP:0001367	Abnormal joint morphology	4920	ROR2	OMIM:113000
HP:0001367	Abnormal joint morphology	22880	MORC2	ORPHA:466768
HP:0001367	Abnormal joint morphology	58	ACTA1	OMIM:620278
HP:0001367	Abnormal joint morphology	9968	MED12	OMIM:305450
HP:0001367	Abnormal joint morphology	9215	LARGE1	OMIM:608840
HP:0001367	Abnormal joint morphology	2273	FHL1	OMIM:300280
HP:0001367	Abnormal joint morphology	7169	TPM2	OMIM:108120
HP:0001367	Abnormal joint morphology	139285	AMER1	OMIM:300373
HP:0001367	Abnormal joint morphology	8626	TP63	OMIM:603543
HP:0001367	Abnormal joint morphology	63895	PIEZO2	OMIM:248700
HP:0001367	Abnormal joint morphology	6497	SKI	OMIM:182212
HP:0001367	Abnormal joint morphology	10084	PQBP1	OMIM:309500
HP:0001367	Abnormal joint morphology	7390	UROS	OMIM:263700
HP:0001367	Abnormal joint morphology	4998	ORC1	OMIM:224690
HP:0001367	Abnormal joint morphology	10381	TUBB3	OMIM:600638
HP:0001367	Abnormal joint morphology	1272	CNTN1	OMIM:612540
HP:0001367	Abnormal joint morphology	9487	PIGL	OMIM:280000
HP:0001367	Abnormal joint morphology	2146	EZH2	OMIM:277590
HP:0001367	Abnormal joint morphology	2316	FLNA	ORPHA:1826
HP:0001367	Abnormal joint morphology	6885	MAP3K7	ORPHA:1826
HP:0001367	Abnormal joint morphology	147372	CCBE1	OMIM:235510
HP:0001367	Abnormal joint morphology	10195	ALG3	OMIM:601110
HP:0001367	Abnormal joint morphology	257	ALX3	OMIM:136760
HP:0001367	Abnormal joint morphology	3239	HOXD13	OMIM:186300
HP:0001367	Abnormal joint morphology	6913	TBX15	OMIM:260660
HP:0001367	Abnormal joint morphology	51651	PTRH2	ORPHA:456312
HP:0001367	Abnormal joint morphology	26053	AUTS2	ORPHA:352490
HP:0001367	Abnormal joint morphology	91252	SLC39A13	OMIM:612350
HP:0001367	Abnormal joint morphology	4604	MYBPC1	OMIM:614335
HP:0001367	Abnormal joint morphology	57449	PLEKHG5	OMIM:611067
HP:0001367	Abnormal joint morphology	3178	HNRNPA1	OMIM:610099
HP:0001367	Abnormal joint morphology	54332	GDAP1	ORPHA:99948
HP:0001367	Abnormal joint morphology	5376	PMP22	ORPHA:90658
HP:0001367	Abnormal joint morphology	28982	FLVCR1	OMIM:609033
HP:0001367	Abnormal joint morphology	1889	ECE1	OMIM:613870
HP:0001367	Abnormal joint morphology	64682	ANAPC1	ORPHA:221008
HP:0001367	Abnormal joint morphology	6938	TCF12	ORPHA:35099
HP:0001367	Abnormal joint morphology	7545	ZIC1	ORPHA:35099
HP:0001367	Abnormal joint morphology	4841	NONO	ORPHA:466791
HP:0001367	Abnormal joint morphology	5307	PITX1	OMIM:119800
HP:0001367	Abnormal joint morphology	3664	IRF6	OMIM:119500
HP:0001367	Abnormal joint morphology	3664	IRF6	ORPHA:1300
HP:0001367	Abnormal joint morphology	727857	BHLHA9	ORPHA:3329
HP:0001367	Abnormal joint morphology	10265	IRX5	OMIM:611174
HP:0001367	Abnormal joint morphology	3481	IGF2	OMIM:616489
HP:0001367	Abnormal joint morphology	9928	KIF14	OMIM:616258
HP:0001367	Abnormal joint morphology	1593	CYP27A1	ORPHA:909
HP:0001367	Abnormal joint morphology	2733	GLE1	ORPHA:1486
HP:0001367	Abnormal joint morphology	23363	OBSL1	ORPHA:2616
HP:0001367	Abnormal joint morphology	83987	CCDC8	ORPHA:2616
HP:0001367	Abnormal joint morphology	3425	IDUA	ORPHA:93473
HP:0001367	Abnormal joint morphology	4297	KMT2A	ORPHA:319182
HP:0001367	Abnormal joint morphology	8036	SHOC2	ORPHA:2701
HP:0001367	Abnormal joint morphology	5500	PPP1CB	ORPHA:2701
HP:0001367	Abnormal joint morphology	57728	WDR19	OMIM:614376
HP:0001367	Abnormal joint morphology	79659	DYNC2H1	OMIM:613091
HP:0001367	Abnormal joint morphology	55112	DYNC2I1	OMIM:615503
HP:0001367	Abnormal joint morphology	255758	DYNLT2B	OMIM:617405
HP:0001367	Abnormal joint morphology	55835	CPAP	OMIM:613676
HP:0001367	Abnormal joint morphology	7337	UBE3A	ORPHA:98794
HP:0001367	Abnormal joint morphology	4948	OCA2	ORPHA:98794
HP:0001367	Abnormal joint morphology	123606	NIPA1	ORPHA:100988
HP:0001367	Abnormal joint morphology	85465	SELENOI	ORPHA:506353
HP:0001367	Abnormal joint morphology	85465	SELENOI	OMIM:618768
HP:0001367	Abnormal joint morphology	4728	NDUFS8	OMIM:618222
HP:0001367	Abnormal joint morphology	56006	SMG9	OMIM:619995
HP:0001367	Abnormal joint morphology	10159	ATP6AP2	ORPHA:363654
HP:0001367	Abnormal joint morphology	6683	SPAST	ORPHA:100985
HP:0001367	Abnormal joint morphology	51604	PIGT	OMIM:615398
HP:0001367	Abnormal joint morphology	9420	CYP7B1	ORPHA:100986
HP:0001367	Abnormal joint morphology	23516	SLC39A14	OMIM:617013
HP:0001367	Abnormal joint morphology	23516	SLC39A14	ORPHA:521406
HP:0001367	Abnormal joint morphology	27247	NFU1	OMIM:620938
HP:0001367	Abnormal joint morphology	22931	RAB18	OMIM:614222
HP:0001367	Abnormal joint morphology	3839	KPNA3	OMIM:620106
HP:0001367	Abnormal joint morphology	2653	GCSH	OMIM:620423
HP:0001367	Abnormal joint morphology	51117	COQ4	OMIM:620666
HP:0001367	Abnormal joint morphology	959	CD40LG	OMIM:308230
HP:0001367	Abnormal joint morphology	64837	KLC2	OMIM:609541
HP:0001367	Abnormal joint morphology	440193	CCDC88C	OMIM:616053
HP:0001367	Abnormal joint morphology	6647	SOD1	OMIM:618598
HP:0001367	Abnormal joint morphology	10613	ERLIN1	OMIM:615681
HP:0001367	Abnormal joint morphology	6253	RTN2	OMIM:604805
HP:0001367	Abnormal joint morphology	84340	GFM2	OMIM:618397
HP:0001367	Abnormal joint morphology	84340	GFM2	ORPHA:565624
HP:0001367	Abnormal joint morphology	79152	FA2H	ORPHA:171629
HP:0001367	Abnormal joint morphology	79152	FA2H	OMIM:612319
HP:0001367	Abnormal joint morphology	10273	STUB1	OMIM:615768
HP:0001367	Abnormal joint morphology	10273	STUB1	ORPHA:412057
HP:0001367	Abnormal joint morphology	9409	PEX16	OMIM:614877
HP:0001367	Abnormal joint morphology	6509	SLC1A4	OMIM:616657
HP:0001367	Abnormal joint morphology	9338	TCEAL1	OMIM:301094
HP:0001367	Abnormal joint morphology	5456	POU3F4	ORPHA:1435
HP:0001367	Abnormal joint morphology	55129	ANO10	ORPHA:284289
HP:0001367	Abnormal joint morphology	219285	SAMD9L	OMIM:159550
HP:0001367	Abnormal joint morphology	9289	ADGRG1	OMIM:606854
HP:0001367	Abnormal joint morphology	7345	UCHL1	OMIM:615491
HP:0001367	Abnormal joint morphology	215	ABCD1	ORPHA:139396
HP:0001367	Abnormal joint morphology	3064	HTT	OMIM:617435
HP:0001367	Abnormal joint morphology	7415	VCP	OMIM:613954
HP:0001367	Abnormal joint morphology	57704	GBA2	OMIM:614409
HP:0001367	Abnormal joint morphology	4141	MARS1	OMIM:620323
HP:0001367	Abnormal joint morphology	2581	GALC	ORPHA:206436
HP:0001367	Abnormal joint morphology	5660	PSAP	ORPHA:206436
HP:0001367	Abnormal joint morphology	823	CAPN1	OMIM:616907
HP:0001367	Abnormal joint morphology	823	CAPN1	ORPHA:488594
HP:0001367	Abnormal joint morphology	1678	TIMM8A	ORPHA:52368
HP:0001367	Abnormal joint morphology	6567	SLC16A2	ORPHA:59
HP:0001367	Abnormal joint morphology	6712	SPTBN2	OMIM:600224
HP:0001367	Abnormal joint morphology	22978	NT5C2	OMIM:613162
HP:0001367	Abnormal joint morphology	65055	REEP1	OMIM:610250
HP:0001367	Abnormal joint morphology	10749	KIF1C	OMIM:611302
HP:0001367	Abnormal joint morphology	8398	PLA2G6	OMIM:612953
HP:0001367	Abnormal joint morphology	113278	SLC52A3	OMIM:211530
HP:0001367	Abnormal joint morphology	9900	SV2A	OMIM:620772
HP:0001367	Abnormal joint morphology	26229	B3GAT3	OMIM:245600
HP:0001367	Abnormal joint morphology	7058	THBS2	OMIM:620865
HP:0001367	Abnormal joint morphology	100151683	RNU4ATAC	OMIM:226960
HP:0001367	Abnormal joint morphology	23233	EXOC6B	OMIM:618395
HP:0001367	Abnormal joint morphology	64412	GZF1	OMIM:617662
HP:0001367	Abnormal joint morphology	6840	SVIL	OMIM:619040
HP:0001367	Abnormal joint morphology	55315	SLC29A3	OMIM:602782
HP:0001367	Abnormal joint morphology	342035	GLDN	OMIM:617194
HP:0001367	Abnormal joint morphology	3861	KRT14	ORPHA:69087
HP:0001367	Abnormal joint morphology	5696	PSMB8	OMIM:256040
HP:0001367	Abnormal joint morphology	4747	NEFL	ORPHA:101085
HP:0001367	Abnormal joint morphology	57187	THOC2	OMIM:300957
HP:0001367	Abnormal joint morphology	7355	SLC35A2	ORPHA:356961
HP:0001367	Abnormal joint morphology	55628	ZNF407	OMIM:619557
HP:0001367	Abnormal joint morphology	51608	GET4	OMIM:620200
HP:0001367	Abnormal joint morphology	28962	OSTM1	OMIM:259720
HP:0001367	Abnormal joint morphology	27125	AFF4	ORPHA:444077
HP:0001367	Abnormal joint morphology	84823	LMNB2	OMIM:619180
HP:0001367	Abnormal joint morphology	51112	TRAPPC12	ORPHA:500144
HP:0001367	Abnormal joint morphology	25871	NEPRO	OMIM:618853
HP:0001367	Abnormal joint morphology	10664	CTCF	OMIM:615502
HP:0001367	Abnormal joint morphology	79633	FAT4	OMIM:615546
HP:0001367	Abnormal joint morphology	7319	UBE2A	ORPHA:163956
HP:0001367	Abnormal joint morphology	375056	MIA3	OMIM:619269
HP:0001367	Abnormal joint morphology	29940	DSE	ORPHA:2953
HP:0001367	Abnormal joint morphology	7148	TNXB	OMIM:606408
HP:0001367	Abnormal joint morphology	4052	LTBP1	ORPHA:90349
HP:0001367	Abnormal joint morphology	30008	EFEMP2	ORPHA:90349
HP:0001367	Abnormal joint morphology	10516	FBLN5	ORPHA:90349
HP:0001367	Abnormal joint morphology	23586	RIGI	OMIM:616298
HP:0001367	Abnormal joint morphology	9997	SCO2	OMIM:604377
HP:0001367	Abnormal joint morphology	9851	KIAA0753	OMIM:619479
HP:0001367	Abnormal joint morphology	64423	INF2	OMIM:614455
HP:0001367	Abnormal joint morphology	6709	SPTAN1	OMIM:620528
HP:0001367	Abnormal joint morphology	10280	SIGMAR1	OMIM:605726
HP:0001367	Abnormal joint morphology	84572	GNPTG	OMIM:252605
HP:0001367	Abnormal joint morphology	10397	NDRG1	OMIM:601455
HP:0001367	Abnormal joint morphology	3315	HSPB1	OMIM:606595
HP:0001367	Abnormal joint morphology	8566	PDXK	OMIM:618511
HP:0001367	Abnormal joint morphology	84342	COG8	OMIM:611182
HP:0001367	Abnormal joint morphology	84466	MEGF10	OMIM:620249
HP:0001367	Abnormal joint morphology	1353	COX11	OMIM:620275
HP:0001367	Abnormal joint morphology	57282	SLC4A10	OMIM:620746
HP:0001367	Abnormal joint morphology	122622	ADSS1	ORPHA:482601
HP:0001367	Abnormal joint morphology	57731	SPTBN4	OMIM:617519
HP:0001367	Abnormal joint morphology	3181	HNRNPA2B1	OMIM:620460
HP:0001367	Abnormal joint morphology	9150	CTDP1	ORPHA:48431
HP:0001367	Abnormal joint morphology	9898	UBAP2L	OMIM:620494
HP:0001367	Abnormal joint morphology	2260	FGFR1	ORPHA:2396
HP:0001367	Abnormal joint morphology	3845	KRAS	ORPHA:2396
HP:0001367	Abnormal joint morphology	1859	DYRK1A	ORPHA:268261
HP:0001367	Abnormal joint morphology	71	ACTG1	ORPHA:2995
HP:0001367	Abnormal joint morphology	60	ACTB	ORPHA:2995
HP:0001367	Abnormal joint morphology	5777	PTPN6	ORPHA:3243
HP:0001367	Abnormal joint morphology	10043	TOM1	OMIM:619510
HP:0001367	Abnormal joint morphology	5479	PPIB	OMIM:259440
HP:0001367	Abnormal joint morphology	6804	STX1A	ORPHA:904
HP:0001367	Abnormal joint morphology	7461	CLIP2	ORPHA:904
HP:0001367	Abnormal joint morphology	84277	DNAJC30	ORPHA:904
HP:0001367	Abnormal joint morphology	8468	FKBP6	ORPHA:904
HP:0001367	Abnormal joint morphology	5982	RFC2	ORPHA:904
HP:0001367	Abnormal joint morphology	2969	GTF2I	ORPHA:904
HP:0001367	Abnormal joint morphology	3984	LIMK1	ORPHA:904
HP:0001367	Abnormal joint morphology	9569	GTF2IRD1	ORPHA:904
HP:0001367	Abnormal joint morphology	155382	VPS37D	ORPHA:904
HP:0001367	Abnormal joint morphology	155368	METTL27	ORPHA:904
HP:0001367	Abnormal joint morphology	114049	BUD23	ORPHA:904
HP:0001367	Abnormal joint morphology	7458	EIF4H	ORPHA:904
HP:0001367	Abnormal joint morphology	84163	GTF2IRD2	ORPHA:904
HP:0001367	Abnormal joint morphology	26608	TBL2	ORPHA:904
HP:0001367	Abnormal joint morphology	653361	NCF1	ORPHA:904
HP:0001367	Abnormal joint morphology	135886	TMEM270	ORPHA:904
HP:0001367	Abnormal joint morphology	9031	BAZ1B	ORPHA:904
HP:0001367	Abnormal joint morphology	2006	ELN	ORPHA:904
HP:0001367	Abnormal joint morphology	5745	PTH1R	ORPHA:50945
HP:0001367	Abnormal joint morphology	4038	LRP4	ORPHA:3258
HP:0001367	Abnormal joint morphology	324	APC	ORPHA:3258
HP:0001367	Abnormal joint morphology	64093	SMOC1	ORPHA:1106
HP:0001367	Abnormal joint morphology	90	ACVR1	ORPHA:337
HP:0001367	Abnormal joint morphology	5116	PCNT	OMIM:210720
HP:0001367	Abnormal joint morphology	22856	CHSY1	ORPHA:363417
HP:0001367	Abnormal joint morphology	2218	FKTN	ORPHA:272
HP:0001367	Abnormal joint morphology	8294	H4C9	OMIM:619951
HP:0001367	Abnormal joint morphology	3094	HINT1	ORPHA:324442
HP:0001367	Abnormal joint morphology	118429	ANTXR2	ORPHA:2176
HP:0001367	Abnormal joint morphology	54968	TMEM70	ORPHA:1194
HP:0001367	Abnormal joint morphology	613	BCR	ORPHA:261330
HP:0001367	Abnormal joint morphology	1399	CRKL	ORPHA:261330
HP:0001367	Abnormal joint morphology	72	ACTG2	ORPHA:2604
HP:0001367	Abnormal joint morphology	3508	IGHMBP2	OMIM:604320
HP:0001367	Abnormal joint morphology	10716	TBR1	ORPHA:1617
HP:0001367	Abnormal joint morphology	9508	ADAMTS3	ORPHA:2136
HP:0001367	Abnormal joint morphology	5190	PEX6	ORPHA:3220
HP:0001367	Abnormal joint morphology	5590	PRKCZ	ORPHA:1606
HP:0001367	Abnormal joint morphology	23013	SPEN	ORPHA:1606
HP:0001367	Abnormal joint morphology	8510	MMP23B	ORPHA:1606
HP:0001367	Abnormal joint morphology	7798	LUZP1	ORPHA:1606
HP:0001367	Abnormal joint morphology	10630	PDPN	ORPHA:1606
HP:0001367	Abnormal joint morphology	10277	UBE4B	ORPHA:1606
HP:0001367	Abnormal joint morphology	8514	KCNAB2	ORPHA:1606
HP:0001367	Abnormal joint morphology	473	RERE	ORPHA:1606
HP:0001367	Abnormal joint morphology	63976	PRDM16	ORPHA:1606
HP:0001367	Abnormal joint morphology	54897	CASZ1	ORPHA:1606
HP:0001367	Abnormal joint morphology	8517	IKBKG	ORPHA:464
HP:0001367	Abnormal joint morphology	55612	FERMT1	ORPHA:2908
HP:0001367	Abnormal joint morphology	23512	SUZ12	ORPHA:3447
HP:0001367	Abnormal joint morphology	54903	MKS1	OMIM:249000
HP:0001367	Abnormal joint morphology	22930	RAB3GAP1	OMIM:619420
HP:0001367	Abnormal joint morphology	27238	GPKOW	ORPHA:2570
HP:0001367	Abnormal joint morphology	23102	TBC1D2B	OMIM:619323
HP:0001367	Abnormal joint morphology	65109	UPF3B	ORPHA:776
HP:0001367	Abnormal joint morphology	134701	RIPPLY2	ORPHA:2311
HP:0001367	Abnormal joint morphology	3955	LFNG	ORPHA:2311
HP:0001367	Abnormal joint morphology	3914	LAMB3	OMIM:226650
HP:0001367	Abnormal joint morphology	8092	ALX1	ORPHA:306542
HP:0001367	Abnormal joint morphology	28952	CCDC22	OMIM:300963
HP:0001367	Abnormal joint morphology	79693	YRDC	ORPHA:2065
HP:0001367	Abnormal joint morphology	51002	TPRKB	ORPHA:2065
HP:0001367	Abnormal joint morphology	10785	WDR4	ORPHA:2065
HP:0001367	Abnormal joint morphology	55746	NUP133	ORPHA:2065
HP:0001367	Abnormal joint morphology	84520	GON7	ORPHA:2065
HP:0001367	Abnormal joint morphology	112858	TP53RK	ORPHA:2065
HP:0001367	Abnormal joint morphology	8270	LAGE3	ORPHA:2065
HP:0001367	Abnormal joint morphology	56916	SMARCAD1	ORPHA:1658
HP:0001367	Abnormal joint morphology	4914	NTRK1	ORPHA:642
HP:0001367	Abnormal joint morphology	11128	POLR3A	ORPHA:3455
HP:0001367	Abnormal joint morphology	673	BRAF	OMIM:163950
HP:0001367	Abnormal joint morphology	5604	MAP2K1	OMIM:163950
HP:0001367	Abnormal joint morphology	117581	TWIST2	ORPHA:1807
HP:0001367	Abnormal joint morphology	1758	DMP1	ORPHA:289176
HP:0001367	Abnormal joint morphology	5167	ENPP1	ORPHA:289176
HP:0001367	Abnormal joint morphology	860	RUNX2	OMIM:119600
HP:0001997	Gout	51726	DNAJB11	OMIM:618061
HP:0001997	Gout	3251	HPRT1	ORPHA:510
HP:0001997	Gout	3251	HPRT1	ORPHA:79233
HP:0001997	Gout	7369	UMOD	OMIM:162000
HP:0001997	Gout	5631	PRPS1	OMIM:300661
HP:0001997	Gout	5631	PRPS1	ORPHA:411543
HP:0001997	Gout	6928	HNF1B	OMIM:137920
HP:0001997	Gout	29927	SEC61A1	OMIM:617056
HP:0001997	Gout	2538	G6PC1	OMIM:232200
HP:0001997	Gout	5213	PFKM	OMIM:232800
HP:0001997	Gout	150	ADRA2A	OMIM:620679
HP:0001997	Gout	4582	MUC1	OMIM:174000
HP:0001997	Gout	1188	CLCNKB	ORPHA:358
HP:0001997	Gout	6559	SLC12A3	ORPHA:358
HP:0001997	Gout	2542	SLC37A4	OMIM:232220
HP:0001997	Gout	2542	SLC37A4	OMIM:232240
HP:0001997	Gout	2542	SLC37A4	ORPHA:79259
HP:0001997	Gout	348	APOE	ORPHA:412
HP:0001997	Gout	2038	EPB42	ORPHA:822
HP:0001997	Gout	6521	SLC4A1	ORPHA:822
HP:0001997	Gout	6710	SPTB	ORPHA:822
HP:0001997	Gout	6708	SPTA1	ORPHA:822
HP:0001997	Gout	286	ANK1	ORPHA:822
HP:0001997	Gout	4040	LRP6	OMIM:610947
HP:0001369	Arthritis	26191	PTPN22	ORPHA:397
HP:0001369	Arthritis	26191	PTPN22	ORPHA:85410
HP:0001369	Arthritis	26191	PTPN22	ORPHA:85408
HP:0001369	Arthritis	26191	PTPN22	ORPHA:536
HP:0001369	Arthritis	26191	PTPN22	ORPHA:900
HP:0001369	Arthritis	26191	PTPN22	OMIM:152700
HP:0001369	Arthritis	3106	HLA-B	ORPHA:397
HP:0001369	Arthritis	3106	HLA-B	ORPHA:29207
HP:0001369	Arthritis	3106	HLA-B	ORPHA:3287
HP:0001369	Arthritis	3106	HLA-B	ORPHA:117
HP:0001369	Arthritis	3123	HLA-DRB1	ORPHA:397
HP:0001369	Arthritis	3123	HLA-DRB1	ORPHA:85414
HP:0001369	Arthritis	3123	HLA-DRB1	ORPHA:536
HP:0001369	Arthritis	3123	HLA-DRB1	ORPHA:797
HP:0001369	Arthritis	3123	HLA-DRB1	OMIM:181000
HP:0001369	Arthritis	3123	HLA-DRB1	ORPHA:220393
HP:0001369	Arthritis	8974	P4HA2	ORPHA:397
HP:0001369	Arthritis	355	FAS	ORPHA:3261
HP:0001369	Arthritis	355	FAS	ORPHA:117
HP:0001369	Arthritis	356	FASLG	ORPHA:3261
HP:0001369	Arthritis	843	CASP10	ORPHA:3261
HP:0001369	Arthritis	144811	LACC1	ORPHA:85414
HP:0001369	Arthritis	4282	MIF	ORPHA:85414
HP:0001369	Arthritis	3569	IL6	ORPHA:85414
HP:0001369	Arthritis	6775	STAT4	ORPHA:85410
HP:0001369	Arthritis	6775	STAT4	ORPHA:93552
HP:0001369	Arthritis	6775	STAT4	ORPHA:85408
HP:0001369	Arthritis	6775	STAT4	ORPHA:536
HP:0001369	Arthritis	6775	STAT4	ORPHA:117
HP:0001369	Arthritis	3560	IL2RB	ORPHA:85410
HP:0001369	Arthritis	3560	IL2RB	ORPHA:85408
HP:0001369	Arthritis	79722	ANKRD55	ORPHA:85410
HP:0001369	Arthritis	79722	ANKRD55	ORPHA:85408
HP:0001369	Arthritis	919	CD247	ORPHA:85410
HP:0001369	Arthritis	919	CD247	ORPHA:85408
HP:0001369	Arthritis	3559	IL2RA	ORPHA:85410
HP:0001369	Arthritis	3559	IL2RA	ORPHA:85408
HP:0001369	Arthritis	5771	PTPN2	ORPHA:85410
HP:0001369	Arthritis	5771	PTPN2	ORPHA:85408
HP:0001369	Arthritis	114548	NLRP3	OMIM:617772
HP:0001369	Arthritis	114548	NLRP3	ORPHA:575
HP:0001369	Arthritis	114548	NLRP3	ORPHA:47045
HP:0001369	Arthritis	114548	NLRP3	OMIM:607115
HP:0001369	Arthritis	114548	NLRP3	OMIM:120100
HP:0001369	Arthritis	4598	MVK	OMIM:260920
HP:0001369	Arthritis	4598	MVK	ORPHA:343
HP:0001369	Arthritis	5631	PRPS1	ORPHA:411543
HP:0001369	Arthritis	5631	PRPS1	ORPHA:411536
HP:0001369	Arthritis	4010	LMX1B	ORPHA:2614
HP:0001369	Arthritis	4072	EPCAM	OMIM:613217
HP:0001369	Arthritis	4072	EPCAM	ORPHA:92050
HP:0001369	Arthritis	987	LRBA	OMIM:614700
HP:0001369	Arthritis	3081	HGD	OMIM:203500
HP:0001369	Arthritis	3081	HGD	ORPHA:56
HP:0001369	Arthritis	6696	SPP1	ORPHA:93552
HP:0001369	Arthritis	6696	SPP1	ORPHA:536
HP:0001369	Arthritis	6303	SAT1	ORPHA:93552
HP:0001369	Arthritis	3654	IRAK1	ORPHA:93552
HP:0001369	Arthritis	3654	IRAK1	ORPHA:536
HP:0001369	Arthritis	148738	HJV	OMIM:602390
HP:0001369	Arthritis	50943	FOXP3	OMIM:304790
HP:0001369	Arthritis	56983	POGLUT1	ORPHA:79145
HP:0001369	Arthritis	3852	KRT5	ORPHA:79145
HP:0001369	Arthritis	23509	POFUT1	ORPHA:79145
HP:0001369	Arthritis	55851	PSENEN	ORPHA:79145
HP:0001369	Arthritis	1776	DNASE1L3	ORPHA:36412
HP:0001369	Arthritis	3248	HPGD	ORPHA:1525
HP:0001369	Arthritis	3248	HPGD	ORPHA:2796
HP:0001369	Arthritis	3248	HPGD	OMIM:259100
HP:0001369	Arthritis	5896	RAG1	OMIM:601457
HP:0001369	Arthritis	5897	RAG2	OMIM:601457
HP:0001369	Arthritis	7317	UBA1	OMIM:301054
HP:0001369	Arthritis	7018	TF	ORPHA:1195
HP:0001369	Arthritis	4210	MEFV	OMIM:249100
HP:0001369	Arthritis	4210	MEFV	ORPHA:342
HP:0001369	Arthritis	4210	MEFV	ORPHA:117
HP:0001369	Arthritis	81858	SHARPIN	OMIM:620795
HP:0001369	Arthritis	3930	LBR	ORPHA:779
HP:0001369	Arthritis	7132	TNFRSF1A	ORPHA:32960
HP:0001369	Arthritis	4952	OCRL	ORPHA:534
HP:0001369	Arthritis	2215	FCGR3B	ORPHA:536
HP:0001369	Arthritis	3684	ITGAM	ORPHA:536
HP:0001369	Arthritis	3586	IL10	ORPHA:536
HP:0001369	Arthritis	3586	IL10	ORPHA:117
HP:0001369	Arthritis	221895	JAZF1	ORPHA:536
HP:0001369	Arthritis	11277	TREX1	ORPHA:536
HP:0001369	Arthritis	11277	TREX1	OMIM:152700
HP:0001369	Arthritis	11277	TREX1	ORPHA:51
HP:0001369	Arthritis	7292	TNFSF4	ORPHA:536
HP:0001369	Arthritis	640	BLK	ORPHA:536
HP:0001369	Arthritis	720	C4A	ORPHA:536
HP:0001369	Arthritis	720	C4A	ORPHA:117
HP:0001369	Arthritis	55024	BANK1	ORPHA:536
HP:0001369	Arthritis	3500	IGHG1	ORPHA:536
HP:0001369	Arthritis	1493	CTLA4	ORPHA:536
HP:0001369	Arthritis	1493	CTLA4	OMIM:616100
HP:0001369	Arthritis	1493	CTLA4	ORPHA:900
HP:0001369	Arthritis	1493	CTLA4	OMIM:152700
HP:0001369	Arthritis	1380	CR2	ORPHA:536
HP:0001369	Arthritis	5133	PDCD1	ORPHA:536
HP:0001369	Arthritis	2113	ETS1	ORPHA:536
HP:0001369	Arthritis	2213	FCGR2B	ORPHA:536
HP:0001369	Arthritis	2213	FCGR2B	OMIM:152700
HP:0001369	Arthritis	10318	TNIP1	ORPHA:536
HP:0001369	Arthritis	7332	UBE2L3	ORPHA:536
HP:0001369	Arthritis	79932	KIAA0319L	ORPHA:536
HP:0001369	Arthritis	4204	MECP2	ORPHA:536
HP:0001369	Arthritis	3663	IRF5	ORPHA:536
HP:0001369	Arthritis	3663	IRF5	ORPHA:220393
HP:0001369	Arthritis	721	C4B	ORPHA:536
HP:0001369	Arthritis	1773	DNASE1	ORPHA:536
HP:0001369	Arthritis	1773	DNASE1	OMIM:152700
HP:0001369	Arthritis	51284	TLR7	ORPHA:536
HP:0001369	Arthritis	54899	PXK	ORPHA:536
HP:0001369	Arthritis	7128	TNFAIP3	ORPHA:536
HP:0001369	Arthritis	427	ASAH1	ORPHA:333
HP:0001369	Arthritis	427	ASAH1	OMIM:228000
HP:0001369	Arthritis	105371045	PERCC1	ORPHA:92050
HP:0001369	Arthritis	10216	PRG4	OMIM:208250
HP:0001369	Arthritis	3107	HLA-C	OMIM:177900
HP:0001369	Arthritis	3423	IDS	ORPHA:217085
HP:0001369	Arthritis	3423	IDS	ORPHA:217093
HP:0001369	Arthritis	713	C1QB	OMIM:620321
HP:0001369	Arthritis	1312	COMT	ORPHA:567
HP:0001369	Arthritis	221037	JMJD1C	ORPHA:567
HP:0001369	Arthritis	2812	GP1BB	ORPHA:567
HP:0001369	Arthritis	6239	RREB1	ORPHA:567
HP:0001369	Arthritis	6899	TBX1	ORPHA:567
HP:0001369	Arthritis	7290	HIRA	ORPHA:567
HP:0001369	Arthritis	9632	SEC24C	ORPHA:567
HP:0001369	Arthritis	7353	UFD1	ORPHA:567
HP:0001369	Arthritis	421	ARVCF	ORPHA:567
HP:0001369	Arthritis	2717	GLA	ORPHA:324
HP:0001369	Arthritis	6578	SLCO2A1	ORPHA:2796
HP:0001369	Arthritis	4313	MMP2	ORPHA:371428
HP:0001369	Arthritis	4323	MMP14	ORPHA:371428
HP:0001369	Arthritis	2131	EXT1	ORPHA:321
HP:0001369	Arthritis	2132	EXT2	ORPHA:321
HP:0001369	Arthritis	64127	NOD2	OMIM:186580
HP:0001369	Arthritis	64127	NOD2	OMIM:617321
HP:0001369	Arthritis	64127	NOD2	ORPHA:90340
HP:0001369	Arthritis	23230	VPS13A	ORPHA:2388
HP:0001369	Arthritis	175	AGA	ORPHA:93
HP:0001369	Arthritis	54	ACP5	ORPHA:1855
HP:0001369	Arthritis	56244	BTNL2	ORPHA:797
HP:0001369	Arthritis	9051	PSTPIP1	OMIM:604416
HP:0001369	Arthritis	9051	PSTPIP1	ORPHA:69126
HP:0001369	Arthritis	10804	GJB6	ORPHA:477
HP:0001369	Arthritis	2706	GJB2	ORPHA:477
HP:0001369	Arthritis	79784	MYH14	ORPHA:397744
HP:0001369	Arthritis	5251	PHEX	ORPHA:89936
HP:0001369	Arthritis	3236	HOXD10	OMIM:192950
HP:0001369	Arthritis	5580	PRKCD	OMIM:615559
HP:0001369	Arthritis	540	ATP7B	ORPHA:905
HP:0001369	Arthritis	7454	WAS	ORPHA:906
HP:0001369	Arthritis	7456	WIPF1	ORPHA:906
HP:0001369	Arthritis	3115	HLA-DPB1	ORPHA:900
HP:0001369	Arthritis	5657	PRTN3	ORPHA:900
HP:0001369	Arthritis	3113	HLA-DPA1	ORPHA:900
HP:0001369	Arthritis	6928	HNF1B	ORPHA:93111
HP:0001369	Arthritis	1280	COL2A1	OMIM:108300
HP:0001369	Arthritis	5293	PIK3CD	ORPHA:221139
HP:0001369	Arthritis	5293	PIK3CD	ORPHA:397596
HP:0001369	Arthritis	5293	PIK3CD	OMIM:613328
HP:0001369	Arthritis	90417	KNSTRN	ORPHA:221139
HP:0001369	Arthritis	90417	KNSTRN	OMIM:613328
HP:0001369	Arthritis	7036	TFR2	OMIM:604250
HP:0001369	Arthritis	331	XIAP	ORPHA:538934
HP:0001369	Arthritis	5728	PTEN	ORPHA:397596
HP:0001369	Arthritis	5295	PIK3R1	ORPHA:397596
HP:0001369	Arthritis	5295	PIK3R1	ORPHA:33110
HP:0001369	Arthritis	130340	AP1S3	ORPHA:247353
HP:0001369	Arthritis	26525	IL36RN	ORPHA:247353
HP:0001369	Arthritis	1314	COPA	OMIM:616414
HP:0001369	Arthritis	51816	ADA2	OMIM:615688
HP:0001369	Arthritis	64135	IFIH1	OMIM:615846
HP:0001369	Arthritis	64135	IFIH1	ORPHA:51
HP:0001369	Arthritis	91662	NLRP12	OMIM:611762
HP:0001369	Arthritis	2263	FGFR2	ORPHA:2363
HP:0001369	Arthritis	2261	FGFR3	ORPHA:2363
HP:0001369	Arthritis	2255	FGF10	ORPHA:2363
HP:0001369	Arthritis	3662	IRF4	ORPHA:3452
HP:0001369	Arthritis	695	BTK	ORPHA:47
HP:0001369	Arthritis	5692	PSMB4	OMIM:617591
HP:0001369	Arthritis	654	BMP6	ORPHA:465508
HP:0001369	Arthritis	3077	HFE	ORPHA:465508
HP:0001369	Arthritis	3593	IL12B	ORPHA:3287
HP:0001369	Arthritis	6945	MLX	ORPHA:3287
HP:0001369	Arthritis	3514	IGKC	ORPHA:183675
HP:0001369	Arthritis	3501	IGHG2	ORPHA:183675
HP:0001369	Arthritis	29110	TBK1	OMIM:620880
HP:0001369	Arthritis	64241	ABCG8	OMIM:210250
HP:0001369	Arthritis	6850	SYK	OMIM:619381
HP:0001369	Arthritis	2000	ELF4	OMIM:301074
HP:0001369	Arthritis	1186	CLCN7	ORPHA:53
HP:0001369	Arthritis	205327	C2orf69	OMIM:619423
HP:0001369	Arthritis	79875	THSD4	OMIM:619825
HP:0001369	Arthritis	2212	FCGR2A	OMIM:152700
HP:0001369	Arthritis	1235	CCR6	ORPHA:220393
HP:0001369	Arthritis	1490	CCN2	ORPHA:220393
HP:0001369	Arthritis	857	CAV1	ORPHA:220393
HP:0001369	Arthritis	10535	RNASEH2A	ORPHA:51
HP:0001369	Arthritis	84153	RNASEH2C	ORPHA:51
HP:0001369	Arthritis	25939	SAMHD1	ORPHA:51
HP:0001369	Arthritis	79621	RNASEH2B	ORPHA:51
HP:0001369	Arthritis	103	ADAR	ORPHA:51
HP:0001369	Arthritis	100147744	RNU7-1	ORPHA:51
HP:0001369	Arthritis	134353	LSM11	ORPHA:51
HP:0001369	Arthritis	165918	RNF168	ORPHA:420741
HP:0001369	Arthritis	4067	LYN	OMIM:620376
HP:0001369	Arthritis	4982	TNFRSF11B	ORPHA:1416
HP:0001369	Arthritis	56172	ANKH	ORPHA:1416
HP:0001369	Arthritis	6929	TCF3	ORPHA:33110
HP:0001369	Arthritis	7922	SLC39A7	ORPHA:33110
HP:0001369	Arthritis	973	CD79A	ORPHA:33110
HP:0001369	Arthritis	974	CD79B	ORPHA:33110
HP:0001369	Arthritis	6688	SPI1	ORPHA:33110
HP:0001369	Arthritis	3543	IGLL1	ORPHA:33110
HP:0001369	Arthritis	3507	IGHM	ORPHA:33110
HP:0001369	Arthritis	29760	BLNK	ORPHA:33110
HP:0001369	Arthritis	56262	LRRC8A	ORPHA:33110
HP:0001369	Arthritis	149233	IL23R	ORPHA:117
HP:0001369	Arthritis	1230	CCR1	ORPHA:117
HP:0001369	Arthritis	3592	IL12A	ORPHA:117
HP:0001369	Arthritis	101928376	IL12A-AS1	ORPHA:117
HP:0001369	Arthritis	7099	TLR4	ORPHA:117
HP:0001369	Arthritis	3459	IFNGR1	ORPHA:117
HP:0001369	Arthritis	337867	UBAC2	ORPHA:117
HP:0001369	Arthritis	51752	ERAP1	ORPHA:117
HP:0001369	Arthritis	8302	KLRC4	ORPHA:117
HP:0001369	Arthritis	2643	GCH1	ORPHA:98808
HP:0001369	Arthritis	4929	NR4A2	ORPHA:98808
HP:0001369	Arthritis	3615	IMPDH2	ORPHA:98808
HP:0001369	Arthritis	6583	SLC22A4	OMIM:180300
HP:0001369	Arthritis	4261	CIITA	OMIM:180300
HP:0001369	Arthritis	51744	CD244	OMIM:180300
HP:0001369	Arthritis	4795	NFKBIL1	OMIM:180300
HP:0001369	Arthritis	51726	DNAJB11	OMIM:618061
HP:0001369	Arthritis	3251	HPRT1	ORPHA:510
HP:0001369	Arthritis	3251	HPRT1	ORPHA:79233
HP:0001369	Arthritis	7369	UMOD	OMIM:162000
HP:0001369	Arthritis	29927	SEC61A1	OMIM:617056
HP:0001369	Arthritis	2538	G6PC1	OMIM:232200
HP:0001369	Arthritis	5213	PFKM	OMIM:232800
HP:0001369	Arthritis	150	ADRA2A	OMIM:620679
HP:0001369	Arthritis	4582	MUC1	OMIM:174000
HP:0001369	Arthritis	1188	CLCNKB	ORPHA:358
HP:0001369	Arthritis	6559	SLC12A3	ORPHA:358
HP:0001369	Arthritis	2542	SLC37A4	OMIM:232220
HP:0001369	Arthritis	2542	SLC37A4	OMIM:232240
HP:0001369	Arthritis	2542	SLC37A4	ORPHA:79259
HP:0001369	Arthritis	348	APOE	ORPHA:412
HP:0001369	Arthritis	2038	EPB42	ORPHA:822
HP:0001369	Arthritis	6521	SLC4A1	ORPHA:822
HP:0001369	Arthritis	6710	SPTB	ORPHA:822
HP:0001369	Arthritis	6708	SPTA1	ORPHA:822
HP:0001369	Arthritis	286	ANK1	ORPHA:822
HP:0001369	Arthritis	4040	LRP6	OMIM:610947
HP:0001369	Arthritis	1311	COMP	ORPHA:750
HP:0001369	Arthritis	1311	COMP	OMIM:177170
HP:0001369	Arthritis	1311	COMP	ORPHA:93308
HP:0001369	Arthritis	4088	SMAD3	ORPHA:284984
HP:0001369	Arthritis	4088	SMAD3	OMIM:613795
HP:0001369	Arthritis	4322	MMP13	OMIM:602111
HP:0001369	Arthritis	176	ACAN	ORPHA:93283
HP:0001369	Arthritis	176	ACAN	ORPHA:435804
HP:0001369	Arthritis	8838	CCN6	OMIM:208230
HP:0001369	Arthritis	652	BMP4	ORPHA:828
HP:0001369	Arthritis	3703	STT3A	OMIM:619714
HP:0001369	Arthritis	4803	NGF	OMIM:608654
HP:0001369	Arthritis	2158	F9	OMIM:306900
HP:0001369	Arthritis	4000	LMNA	ORPHA:740
HP:0001369	Arthritis	10269	ZMPSTE24	ORPHA:740
HP:0001369	Arthritis	2157	F8	OMIM:306700
HP:0001369	Arthritis	1289	COL5A1	OMIM:130000
HP:0001369	Arthritis	1289	COL5A1	ORPHA:287
HP:0001369	Arthritis	1299	COL9A3	OMIM:600969
HP:0001369	Arthritis	1299	COL9A3	ORPHA:166002
HP:0001369	Arthritis	30061	SLC40A1	OMIM:606069
HP:0001369	Arthritis	2778	GNAS	ORPHA:2762
HP:0001369	Arthritis	124583	CANT1	OMIM:251450
HP:0001369	Arthritis	1297	COL9A1	ORPHA:166002
HP:0001369	Arthritis	1297	COL9A1	OMIM:614135
HP:0001369	Arthritis	1298	COL9A2	ORPHA:166002
HP:0001369	Arthritis	11117	EMILIN1	OMIM:620080
HP:0001369	Arthritis	165	AEBP1	OMIM:618000
HP:0001369	Arthritis	55325	UFSP2	ORPHA:2114
HP:0001369	Arthritis	55325	UFSP2	OMIM:142669
HP:0001369	Arthritis	4087	SMAD2	OMIM:619656
HP:0001369	Arthritis	1302	COL11A2	ORPHA:1427
HP:0001369	Arthritis	1302	COL11A2	ORPHA:166100
HP:0001369	Arthritis	83550	GPR101	ORPHA:963
HP:0001369	Arthritis	9049	AIP	ORPHA:963
HP:0001369	Arthritis	1277	COL1A1	ORPHA:287
HP:0001369	Arthritis	1290	COL5A2	ORPHA:287
HP:0001369	Arthritis	4148	MATN3	OMIM:140600
HP:0001369	Arthritis	1281	COL3A1	ORPHA:286
HP:0001369	Arthritis	1301	COL11A1	ORPHA:560
HP:0001369	Arthritis	7043	TGFB3	OMIM:615582
HP:0001369	Arthritis	7227	TRPS1	OMIM:190350
HP:0001369	Arthritis	57592	ZNF687	OMIM:616833
HP:0001369	Arthritis	54829	ASPN	OMIM:607850
HP:0001369	Arthritis	2690	GHR	ORPHA:633
HP:0001369	Arthritis	2629	GBA1	ORPHA:77259
HP:0001369	Arthritis	950	SCARB2	ORPHA:77259
HP:0001369	Arthritis	3835	KIF22	ORPHA:93360
HP:0001369	Arthritis	6399	TRAPPC2	ORPHA:93284
HP:0001369	Arthritis	2200	FBN1	OMIM:154700
HP:0001369	Arthritis	1836	SLC26A2	ORPHA:93307
HP:0001369	Arthritis	65992	DDRGK1	ORPHA:93352
HP:0001369	Arthritis	59341	TRPV4	ORPHA:93314
HP:0001369	Arthritis	4914	NTRK1	ORPHA:642
HP:0001369	Arthritis	4522	MTHFD1	OMIM:617780
HP:0001369	Arthritis	4615	MYD88	OMIM:612260
HP:0001369	Arthritis	5993	RFX5	OMIM:620816
HP:0001369	Arthritis	3426	CFI	OMIM:610984
HP:0001369	Arthritis	51135	IRAK4	OMIM:607676
HP:0001369	Arthritis	64240	ABCG5	ORPHA:2882
HP:0001369	Arthritis	64421	DCLRE1C	ORPHA:275
HP:0001369	Arthritis	8200	GDF5	ORPHA:63442
HP:0001369	Arthritis	2487	FRZB	OMIM:165720
HP:0001369	Arthritis	5777	PTPN6	ORPHA:3243
HP:0001369	Arthritis	10043	TOM1	OMIM:619510
HP:0007727	Opacification of the corneal epithelium	224	ALDH3A2	OMIM:270200
HP:0007727	Opacification of the corneal epithelium	7045	TGFBI	ORPHA:98960
HP:0007727	Opacification of the corneal epithelium	7045	TGFBI	ORPHA:98962
HP:0007727	Opacification of the corneal epithelium	7045	TGFBI	ORPHA:98963
HP:0007727	Opacification of the corneal epithelium	7045	TGFBI	ORPHA:98964
HP:0007727	Opacification of the corneal epithelium	1308	COL17A1	ORPHA:293381
HP:0007727	Opacification of the corneal epithelium	4070	TACSTD2	ORPHA:98957
HP:0000564	Lacrimal duct atresia	8626	TP63	OMIM:106260
HP:0000564	Lacrimal duct atresia	8626	TP63	OMIM:603543
HP:0000564	Lacrimal duct atresia	8626	TP63	ORPHA:69085
HP:0000564	Lacrimal duct atresia	2261	FGFR3	OMIM:620192
HP:0000564	Lacrimal duct atresia	23347	SMCHD1	OMIM:603457
HP:0000564	Lacrimal duct atresia	5077	PAX3	ORPHA:1529
HP:0000564	Lacrimal duct atresia	54539	NDUFB11	OMIM:300952
HP:0000564	Lacrimal duct atresia	3321	IGSF3	OMIM:149700
HP:0007730	Iris hypopigmentation	63915	BLOC1S5	OMIM:619172
HP:0007730	Iris hypopigmentation	57724	EPG5	OMIM:242840
HP:0007730	Iris hypopigmentation	3257	HPS1	OMIM:203300
HP:0007730	Iris hypopigmentation	5590	PRKCZ	ORPHA:1606
HP:0007730	Iris hypopigmentation	2563	GABRD	ORPHA:1606
HP:0007730	Iris hypopigmentation	23013	SPEN	ORPHA:1606
HP:0007730	Iris hypopigmentation	8510	MMP23B	ORPHA:1606
HP:0007730	Iris hypopigmentation	7798	LUZP1	ORPHA:1606
HP:0007730	Iris hypopigmentation	6497	SKI	ORPHA:1606
HP:0007730	Iris hypopigmentation	10630	PDPN	ORPHA:1606
HP:0007730	Iris hypopigmentation	3339	HSPG2	ORPHA:1606
HP:0007730	Iris hypopigmentation	10277	UBE4B	ORPHA:1606
HP:0007730	Iris hypopigmentation	8514	KCNAB2	ORPHA:1606
HP:0007730	Iris hypopigmentation	473	RERE	ORPHA:1606
HP:0007730	Iris hypopigmentation	63976	PRDM16	ORPHA:1606
HP:0007730	Iris hypopigmentation	54897	CASZ1	ORPHA:1606
HP:0007730	Iris hypopigmentation	8546	AP3B1	OMIM:608233
HP:0007730	Iris hypopigmentation	89781	HPS4	OMIM:614073
HP:0007730	Iris hypopigmentation	11234	HPS5	OMIM:614074
HP:0007730	Iris hypopigmentation	26258	BLOC1S6	OMIM:614171
HP:0007730	Iris hypopigmentation	388552	BLOC1S3	OMIM:614077
HP:0007730	Iris hypopigmentation	79803	HPS6	OMIM:614075
HP:0007730	Iris hypopigmentation	84062	DTNBP1	OMIM:614076
HP:0007730	Iris hypopigmentation	7337	UBE3A	ORPHA:98794
HP:0007730	Iris hypopigmentation	7337	UBE3A	ORPHA:98795
HP:0007730	Iris hypopigmentation	7337	UBE3A	ORPHA:411511
HP:0007730	Iris hypopigmentation	7337	UBE3A	ORPHA:411515
HP:0007730	Iris hypopigmentation	4948	OCA2	ORPHA:98794
HP:0007730	Iris hypopigmentation	4948	OCA2	ORPHA:177904
HP:0007730	Iris hypopigmentation	4948	OCA2	ORPHA:177901
HP:0007730	Iris hypopigmentation	4948	OCA2	ORPHA:79432
HP:0007730	Iris hypopigmentation	4948	OCA2	ORPHA:98754
HP:0007730	Iris hypopigmentation	6638	SNRPN	ORPHA:177904
HP:0007730	Iris hypopigmentation	6638	SNRPN	ORPHA:177901
HP:0007730	Iris hypopigmentation	6638	SNRPN	ORPHA:177910
HP:0007730	Iris hypopigmentation	6638	SNRPN	ORPHA:177907
HP:0007730	Iris hypopigmentation	6638	SNRPN	ORPHA:411515
HP:0007730	Iris hypopigmentation	6638	SNRPN	ORPHA:98754
HP:0007730	Iris hypopigmentation	4692	NDN	ORPHA:177904
HP:0007730	Iris hypopigmentation	4692	NDN	ORPHA:177901
HP:0007730	Iris hypopigmentation	4692	NDN	ORPHA:177910
HP:0007730	Iris hypopigmentation	4692	NDN	ORPHA:98754
HP:0007730	Iris hypopigmentation	54551	MAGEL2	ORPHA:177904
HP:0007730	Iris hypopigmentation	54551	MAGEL2	ORPHA:177901
HP:0007730	Iris hypopigmentation	54551	MAGEL2	ORPHA:177910
HP:0007730	Iris hypopigmentation	54551	MAGEL2	ORPHA:98754
HP:0007730	Iris hypopigmentation	7399	USH2A	ORPHA:231178
HP:0007730	Iris hypopigmentation	79955	PDZD7	ORPHA:231178
HP:0007730	Iris hypopigmentation	4647	MYO7A	ORPHA:231178
HP:0007730	Iris hypopigmentation	4647	MYO7A	ORPHA:231169
HP:0007730	Iris hypopigmentation	25861	WHRN	ORPHA:231178
HP:0007730	Iris hypopigmentation	84059	ADGRV1	ORPHA:231178
HP:0007730	Iris hypopigmentation	5961	PRPH2	ORPHA:99000
HP:0007730	Iris hypopigmentation	7439	BEST1	ORPHA:99000
HP:0007730	Iris hypopigmentation	50939	IMPG2	ORPHA:99000
HP:0007730	Iris hypopigmentation	3617	IMPG1	ORPHA:99000
HP:0007730	Iris hypopigmentation	5308	PITX2	OMIM:137600
HP:0007730	Iris hypopigmentation	284058	KANSL1	OMIM:610443
HP:0007730	Iris hypopigmentation	1130	LYST	ORPHA:167
HP:0007730	Iris hypopigmentation	1130	LYST	OMIM:214500
HP:0007730	Iris hypopigmentation	64072	CDH23	ORPHA:231169
HP:0007730	Iris hypopigmentation	10083	USH1C	ORPHA:231169
HP:0007730	Iris hypopigmentation	124590	USH1G	ORPHA:231169
HP:0007730	Iris hypopigmentation	83715	ESPN	ORPHA:231169
HP:0007730	Iris hypopigmentation	10518	CIB2	ORPHA:231169
HP:0007730	Iris hypopigmentation	65217	PCDH15	ORPHA:231169
HP:0007730	Iris hypopigmentation	8943	AP3D1	ORPHA:54
HP:0007730	Iris hypopigmentation	4935	GPR143	ORPHA:54
HP:0007730	Iris hypopigmentation	6663	SOX10	OMIM:611584
HP:0007730	Iris hypopigmentation	64132	XYLT2	ORPHA:85194
HP:0007730	Iris hypopigmentation	57194	ATP10A	ORPHA:411515
HP:0007730	Iris hypopigmentation	7299	TYR	ORPHA:79431
HP:0007730	Iris hypopigmentation	7299	TYR	ORPHA:79434
HP:0007730	Iris hypopigmentation	4157	MC1R	ORPHA:79432
HP:0007730	Iris hypopigmentation	4644	MYO5A	ORPHA:79476
HP:0007730	Iris hypopigmentation	4644	MYO5A	ORPHA:79478
HP:0007730	Iris hypopigmentation	7401	CLRN1	ORPHA:231183
HP:0007730	Iris hypopigmentation	22901	ARSG	ORPHA:231183
HP:0007730	Iris hypopigmentation	4575	MT-TS2	ORPHA:231183
HP:0007730	Iris hypopigmentation	3035	HARS1	ORPHA:231183
HP:0007730	Iris hypopigmentation	84131	CEP78	ORPHA:231183
HP:0007730	Iris hypopigmentation	7306	TYRP1	ORPHA:79433
HP:0007730	Iris hypopigmentation	5873	RAB27A	ORPHA:79477
HP:0007730	Iris hypopigmentation	79083	MLPH	ORPHA:79478
HP:0007730	Iris hypopigmentation	51151	SLC45A2	ORPHA:79435
HP:0007731	Chorioretinal dysplasia	85378	TUBGCP6	OMIM:251270
HP:0007731	Chorioretinal dysplasia	27229	TUBGCP4	OMIM:616335
HP:0007731	Chorioretinal dysplasia	3832	KIF11	ORPHA:2526
HP:0007731	Chorioretinal dysplasia	3832	KIF11	OMIM:152950
HP:0007731	Chorioretinal dysplasia	4952	OCRL	ORPHA:534
HP:0007731	Chorioretinal dysplasia	84892	POMGNT2	ORPHA:899
HP:0007731	Chorioretinal dysplasia	148789	B3GALNT2	ORPHA:899
HP:0007731	Chorioretinal dysplasia	79147	FKRP	ORPHA:899
HP:0007731	Chorioretinal dysplasia	29954	POMT2	ORPHA:899
HP:0007731	Chorioretinal dysplasia	9215	LARGE1	ORPHA:899
HP:0007731	Chorioretinal dysplasia	1282	COL4A1	ORPHA:899
HP:0007731	Chorioretinal dysplasia	729920	CRPPA	ORPHA:899
HP:0007731	Chorioretinal dysplasia	10329	RXYLT1	ORPHA:899
HP:0007731	Chorioretinal dysplasia	1605	DAG1	ORPHA:899
HP:0007731	Chorioretinal dysplasia	11041	B4GAT1	ORPHA:899
HP:0007731	Chorioretinal dysplasia	10585	POMT1	ORPHA:899
HP:0007731	Chorioretinal dysplasia	84197	POMK	ORPHA:899
HP:0007731	Chorioretinal dysplasia	2218	FKTN	ORPHA:899
HP:0007731	Chorioretinal dysplasia	55624	POMGNT1	ORPHA:899
HP:0007731	Chorioretinal dysplasia	54539	NDUFB11	ORPHA:2556
HP:0007731	Chorioretinal dysplasia	1349	COX7B	ORPHA:2556
HP:0007731	Chorioretinal dysplasia	3052	HCCS	ORPHA:2556
HP:0007732	Lacrimal gland hypoplasia	6663	SOX10	OMIM:613266
HP:0007732	Lacrimal gland hypoplasia	2263	FGFR2	OMIM:149730
HP:0007732	Lacrimal gland hypoplasia	668	FOXL2	ORPHA:572333
HP:0007732	Lacrimal gland hypoplasia	2255	FGF10	OMIM:180920
HP:0007733	Laterally curved eyebrow	54880	BCOR	OMIM:300166
HP:0007734	Enlarged lacrimal glands	3123	HLA-DRB1	OMIM:181000
HP:0007734	Enlarged lacrimal glands	3123	HLA-DRB1	ORPHA:797
HP:0007734	Enlarged lacrimal glands	56244	BTNL2	ORPHA:797
HP:0001370	Rheumatoid arthritis	54	ACP5	OMIM:607944
HP:0001370	Rheumatoid arthritis	6775	STAT4	ORPHA:85410
HP:0001370	Rheumatoid arthritis	3560	IL2RB	ORPHA:85410
HP:0001370	Rheumatoid arthritis	79722	ANKRD55	ORPHA:85410
HP:0001370	Rheumatoid arthritis	26191	PTPN22	ORPHA:85410
HP:0001370	Rheumatoid arthritis	26191	PTPN22	OMIM:180300
HP:0001370	Rheumatoid arthritis	919	CD247	ORPHA:85410
HP:0001370	Rheumatoid arthritis	3559	IL2RA	ORPHA:85410
HP:0001370	Rheumatoid arthritis	5771	PTPN2	ORPHA:85410
HP:0001370	Rheumatoid arthritis	2643	GCH1	ORPHA:98808
HP:0001370	Rheumatoid arthritis	4929	NR4A2	ORPHA:98808
HP:0001370	Rheumatoid arthritis	3615	IMPDH2	ORPHA:98808
HP:0001370	Rheumatoid arthritis	3586	IL10	OMIM:180300
HP:0001370	Rheumatoid arthritis	6583	SLC22A4	OMIM:180300
HP:0001370	Rheumatoid arthritis	4261	CIITA	OMIM:180300
HP:0001370	Rheumatoid arthritis	51744	CD244	OMIM:180300
HP:0001370	Rheumatoid arthritis	4795	NFKBIL1	OMIM:180300
HP:0001370	Rheumatoid arthritis	3514	IGKC	ORPHA:183675
HP:0001370	Rheumatoid arthritis	3501	IGHG2	ORPHA:183675
HP:0001370	Rheumatoid arthritis	64421	DCLRE1C	ORPHA:275
HP:0001370	Rheumatoid arthritis	144811	LACC1	ORPHA:85414
HP:0001370	Rheumatoid arthritis	4282	MIF	ORPHA:85414
HP:0001370	Rheumatoid arthritis	3123	HLA-DRB1	ORPHA:85414
HP:0001370	Rheumatoid arthritis	3569	IL6	ORPHA:85414
HP:0001374	Congenital hip dislocation	9361	LONP1	OMIM:600373
HP:0001374	Congenital hip dislocation	9361	LONP1	ORPHA:1458
HP:0001374	Congenital hip dislocation	6261	RYR1	ORPHA:597
HP:0001374	Congenital hip dislocation	6261	RYR1	OMIM:117000
HP:0001374	Congenital hip dislocation	64840	PORCN	OMIM:305600
HP:0001374	Congenital hip dislocation	6628	SNRPB	OMIM:117650
HP:0001374	Congenital hip dislocation	9759	HDAC4	OMIM:619797
HP:0001374	Congenital hip dislocation	5351	PLOD1	OMIM:225400
HP:0001374	Congenital hip dislocation	134218	DNAJC21	OMIM:617052
HP:0001374	Congenital hip dislocation	1182	CLCN3	OMIM:619512
HP:0001374	Congenital hip dislocation	63895	PIEZO2	OMIM:114300
HP:0001374	Congenital hip dislocation	2138	EYA1	OMIM:113650
HP:0001374	Congenital hip dislocation	6495	SIX1	OMIM:113650
HP:0001374	Congenital hip dislocation	84627	ZNF469	OMIM:229200
HP:0001374	Congenital hip dislocation	55699	IARS2	OMIM:616007
HP:0001374	Congenital hip dislocation	5048	PAFAH1B1	ORPHA:217385
HP:0001374	Congenital hip dislocation	7531	YWHAE	ORPHA:217385
HP:0001374	Congenital hip dislocation	6885	MAP3K7	OMIM:617137
HP:0001374	Congenital hip dislocation	9820	CUL7	ORPHA:2616
HP:0001374	Congenital hip dislocation	23363	OBSL1	ORPHA:2616
HP:0001374	Congenital hip dislocation	83987	CCDC8	ORPHA:2616
HP:0001374	Congenital hip dislocation	8239	USP9X	ORPHA:480880
HP:0001374	Congenital hip dislocation	8195	MKKS	OMIM:236700
HP:0001374	Congenital hip dislocation	1131	CHRM3	ORPHA:2970
HP:0001374	Congenital hip dislocation	1131	CHRM3	OMIM:100100
HP:0001374	Congenital hip dislocation	10060	ABCC9	OMIM:619719
HP:0001374	Congenital hip dislocation	23545	ATP6V0A2	OMIM:219200
HP:0001374	Congenital hip dislocation	23545	ATP6V0A2	ORPHA:357074
HP:0001374	Congenital hip dislocation	23545	ATP6V0A2	ORPHA:2834
HP:0001374	Congenital hip dislocation	23545	ATP6V0A2	OMIM:278250
HP:0001374	Congenital hip dislocation	9401	RECQL4	OMIM:268400
HP:0001374	Congenital hip dislocation	89910	UBE3B	OMIM:244450
HP:0001374	Congenital hip dislocation	1723	DHODH	OMIM:263750
HP:0001374	Congenital hip dislocation	60482	SLC5A7	ORPHA:98914
HP:0001374	Congenital hip dislocation	4649	MYO9A	ORPHA:98914
HP:0001374	Congenital hip dislocation	1305	COL13A1	ORPHA:98914
HP:0001374	Congenital hip dislocation	1103	CHAT	ORPHA:98914
HP:0001374	Congenital hip dislocation	6576	SLC25A1	ORPHA:98914
HP:0001374	Congenital hip dislocation	6843	VAMP1	ORPHA:98914
HP:0001374	Congenital hip dislocation	375790	AGRN	ORPHA:98914
HP:0001374	Congenital hip dislocation	127833	SYT2	ORPHA:98914
HP:0001374	Congenital hip dislocation	6572	SLC18A3	ORPHA:98914
HP:0001374	Congenital hip dislocation	6616	SNAP25	ORPHA:98914
HP:0001374	Congenital hip dislocation	5832	ALDH18A1	OMIM:219150
HP:0001374	Congenital hip dislocation	55768	NGLY1	ORPHA:404454
HP:0001374	Congenital hip dislocation	2316	FLNA	OMIM:304120
HP:0001374	Congenital hip dislocation	2273	FHL1	OMIM:300280
HP:0001374	Congenital hip dislocation	7169	TPM2	OMIM:108120
HP:0001374	Congenital hip dislocation	7169	TPM2	ORPHA:2020
HP:0001374	Congenital hip dislocation	6904	TBCD	ORPHA:496641
HP:0001374	Congenital hip dislocation	7547	ZIC3	OMIM:306955
HP:0001374	Congenital hip dislocation	3835	KIF22	OMIM:603546
HP:0001374	Congenital hip dislocation	2239	GPC4	ORPHA:373
HP:0001374	Congenital hip dislocation	2719	GPC3	ORPHA:373
HP:0001374	Congenital hip dislocation	7476	WNT7A	OMIM:228930
HP:0001374	Congenital hip dislocation	1290	COL5A2	OMIM:130010
HP:0001374	Congenital hip dislocation	523	ATP6V1A	ORPHA:357074
HP:0001374	Congenital hip dislocation	529	ATP6V1E1	ORPHA:357074
HP:0001374	Congenital hip dislocation	5528	PPP2R5D	ORPHA:457279
HP:0001374	Congenital hip dislocation	5528	PPP2R5D	OMIM:616355
HP:0001374	Congenital hip dislocation	8260	NAA10	OMIM:300855
HP:0001374	Congenital hip dislocation	50814	NSDHL	OMIM:308050
HP:0001374	Congenital hip dislocation	23522	KAT6B	OMIM:606170
HP:0001374	Congenital hip dislocation	5831	PYCR1	OMIM:612940
HP:0001374	Congenital hip dislocation	50628	GEMIN4	OMIM:617913
HP:0001374	Congenital hip dislocation	3339	HSPG2	OMIM:255800
HP:0001374	Congenital hip dislocation	6913	TBX15	ORPHA:93333
HP:0001374	Congenital hip dislocation	9896	FIG4	OMIM:216340
HP:0001374	Congenital hip dislocation	23299	BICD2	OMIM:618291
HP:0001374	Congenital hip dislocation	22827	PUF60	ORPHA:508488
HP:0001374	Congenital hip dislocation	1281	COL3A1	ORPHA:286
HP:0001374	Congenital hip dislocation	57190	SELENON	ORPHA:2020
HP:0001374	Congenital hip dislocation	58	ACTA1	ORPHA:2020
HP:0001374	Congenital hip dislocation	4633	MYL2	ORPHA:2020
HP:0001374	Congenital hip dislocation	3679	ITGA7	ORPHA:2020
HP:0001374	Congenital hip dislocation	9200	HACD1	ORPHA:2020
HP:0001374	Congenital hip dislocation	7170	TPM3	ORPHA:2020
HP:0001374	Congenital hip dislocation	7170	TPM3	OMIM:255310
HP:0001374	Congenital hip dislocation	51776	MAP3K20	ORPHA:2020
HP:0001374	Congenital hip dislocation	51651	PTRH2	ORPHA:456312
HP:0001374	Congenital hip dislocation	9427	ECEL1	OMIM:615065
HP:0001374	Congenital hip dislocation	1291	COL6A1	OMIM:158810
HP:0001374	Congenital hip dislocation	1293	COL6A3	OMIM:620728
HP:0001374	Congenital hip dislocation	7067	THRA	OMIM:614450
HP:0001374	Congenital hip dislocation	4035	LRP1	OMIM:620690
HP:0001374	Congenital hip dislocation	8085	KMT2D	OMIM:147920
HP:0001374	Congenital hip dislocation	7403	KDM6A	OMIM:147920
HP:0001374	Congenital hip dislocation	1303	COL12A1	ORPHA:536516
HP:0001374	Congenital hip dislocation	9894	TELO2	ORPHA:488642
HP:0001374	Congenital hip dislocation	1277	COL1A1	OMIM:130060
HP:0001374	Congenital hip dislocation	57477	SHROOM4	ORPHA:85288
HP:0001374	Congenital hip dislocation	2192	FBLN1	ORPHA:404451
HP:0001374	Congenital hip dislocation	8218	CLTCL1	ORPHA:453510
HP:0001376	Limitation of joint mobility	2074	ERCC6	OMIM:133540
HP:0001376	Limitation of joint mobility	54808	DYM	OMIM:607326
HP:0001376	Limitation of joint mobility	54808	DYM	OMIM:223800
HP:0001376	Limitation of joint mobility	6399	TRAPPC2	ORPHA:93284
HP:0001376	Limitation of joint mobility	6399	TRAPPC2	OMIM:313400
HP:0001376	Limitation of joint mobility	27238	GPKOW	ORPHA:2570
HP:0001376	Limitation of joint mobility	23592	LEMD3	ORPHA:166119
HP:0001376	Limitation of joint mobility	2335	FN1	ORPHA:93315
HP:0001376	Limitation of joint mobility	1280	COL2A1	ORPHA:93315
HP:0001376	Limitation of joint mobility	1280	COL2A1	OMIM:609162
HP:0001376	Limitation of joint mobility	1280	COL2A1	OMIM:156550
HP:0001376	Limitation of joint mobility	2733	GLE1	ORPHA:1486
HP:0001376	Limitation of joint mobility	2261	FGFR3	ORPHA:93274
HP:0001376	Limitation of joint mobility	5447	POR	ORPHA:95699
HP:0001376	Limitation of joint mobility	5354	PLP1	ORPHA:99015
HP:0001376	Limitation of joint mobility	242	ALOX12B	ORPHA:281122
HP:0001376	Limitation of joint mobility	59344	ALOXE3	ORPHA:281122
HP:0001376	Limitation of joint mobility	7051	TGM1	ORPHA:281122
HP:0001376	Limitation of joint mobility	112	ADCY6	ORPHA:2680
HP:0001376	Limitation of joint mobility	163175	LGI4	ORPHA:2680
HP:0001376	Limitation of joint mobility	8506	CNTNAP1	ORPHA:2680
HP:0001376	Limitation of joint mobility	113179	ADAT3	ORPHA:363528
HP:0001376	Limitation of joint mobility	1836	SLC26A2	ORPHA:93307
HP:0001376	Limitation of joint mobility	1311	COMP	ORPHA:93308
HP:0001376	Limitation of joint mobility	150468	CKAP2L	ORPHA:3255
HP:0001376	Limitation of joint mobility	1161	ERCC8	OMIM:216400
HP:0001376	Limitation of joint mobility	79158	GNPTAB	OMIM:252500
HP:0001376	Limitation of joint mobility	79158	GNPTAB	ORPHA:576
HP:0001376	Limitation of joint mobility	79158	GNPTAB	OMIM:252600
HP:0001376	Limitation of joint mobility	4000	LMNA	ORPHA:90153
HP:0001376	Limitation of joint mobility	4000	LMNA	ORPHA:79474
HP:0001376	Limitation of joint mobility	4000	LMNA	ORPHA:740
HP:0001376	Limitation of joint mobility	4000	LMNA	ORPHA:157973
HP:0001376	Limitation of joint mobility	4626	MYH8	ORPHA:3377
HP:0001376	Limitation of joint mobility	2263	FGFR2	ORPHA:93260
HP:0001376	Limitation of joint mobility	2263	FGFR2	ORPHA:93259
HP:0001376	Limitation of joint mobility	8925	HERC1	ORPHA:457359
HP:0001376	Limitation of joint mobility	2200	FBN1	ORPHA:2833
HP:0001376	Limitation of joint mobility	2200	FBN1	OMIM:614185
HP:0001376	Limitation of joint mobility	2200	FBN1	ORPHA:3449
HP:0001376	Limitation of joint mobility	3423	IDS	ORPHA:217085
HP:0001376	Limitation of joint mobility	3423	IDS	ORPHA:217093
HP:0001376	Limitation of joint mobility	9326	ZNHIT3	ORPHA:2836
HP:0001376	Limitation of joint mobility	3248	HPGD	ORPHA:2796
HP:0001376	Limitation of joint mobility	3248	HPGD	OMIM:259100
HP:0001376	Limitation of joint mobility	6578	SLCO2A1	ORPHA:2796
HP:0001376	Limitation of joint mobility	3339	HSPG2	ORPHA:1865
HP:0001376	Limitation of joint mobility	2131	EXT1	ORPHA:321
HP:0001376	Limitation of joint mobility	2132	EXT2	ORPHA:321
HP:0001376	Limitation of joint mobility	2632	GBE1	ORPHA:206583
HP:0001376	Limitation of joint mobility	171023	ASXL1	ORPHA:97297
HP:0001376	Limitation of joint mobility	9496	TBX4	ORPHA:261279
HP:0001376	Limitation of joint mobility	64327	LMBR1	ORPHA:93405
HP:0001376	Limitation of joint mobility	64327	LMBR1	ORPHA:2378
HP:0001376	Limitation of joint mobility	6469	SHH	ORPHA:93405
HP:0001376	Limitation of joint mobility	60386	SLC25A19	ORPHA:99742
HP:0001376	Limitation of joint mobility	2316	FLNA	ORPHA:90650
HP:0001376	Limitation of joint mobility	1499	CTNNB1	ORPHA:873
HP:0001376	Limitation of joint mobility	324	APC	ORPHA:873
HP:0001376	Limitation of joint mobility	5251	PHEX	ORPHA:89936
HP:0001376	Limitation of joint mobility	64841	GNPNAT1	OMIM:619598
HP:0001376	Limitation of joint mobility	9791	PTDSS1	ORPHA:2658
HP:0001376	Limitation of joint mobility	8239	USP9X	ORPHA:480880
HP:0001376	Limitation of joint mobility	3425	IDUA	ORPHA:93474
HP:0001376	Limitation of joint mobility	3425	IDUA	ORPHA:93473
HP:0001376	Limitation of joint mobility	3425	IDUA	ORPHA:93476
HP:0001376	Limitation of joint mobility	6329	SCN4A	ORPHA:99735
HP:0001376	Limitation of joint mobility	7305	TYROBP	ORPHA:2770
HP:0001376	Limitation of joint mobility	54209	TREM2	ORPHA:2770
HP:0001376	Limitation of joint mobility	7040	TGFB1	ORPHA:1328
HP:0001376	Limitation of joint mobility	9935	MAFB	ORPHA:2774
HP:0001376	Limitation of joint mobility	4598	MVK	ORPHA:343
HP:0001376	Limitation of joint mobility	56052	ALG1	ORPHA:79327
HP:0001376	Limitation of joint mobility	10269	ZMPSTE24	ORPHA:740
HP:0001376	Limitation of joint mobility	4094	MAF	ORPHA:1272
HP:0001376	Limitation of joint mobility	4089	SMAD4	OMIM:139210
HP:0001376	Limitation of joint mobility	8838	CCN6	ORPHA:1159
HP:0001376	Limitation of joint mobility	6598	SMARCB1	ORPHA:99966
HP:0001376	Limitation of joint mobility	55906	ZC4H2	ORPHA:3454
HP:0001376	Limitation of joint mobility	2778	GNAS	ORPHA:2762
HP:0001376	Limitation of joint mobility	26154	ABCA12	ORPHA:457
HP:0001376	Limitation of joint mobility	90	ACVR1	ORPHA:337
HP:0001376	Limitation of joint mobility	63895	PIEZO2	ORPHA:376
HP:0001376	Limitation of joint mobility	4854	NOTCH3	ORPHA:2591
HP:0001376	Limitation of joint mobility	5159	PDGFRB	ORPHA:2591
HP:0001376	Limitation of joint mobility	2157	F8	ORPHA:169805
HP:0001376	Limitation of joint mobility	2157	F8	ORPHA:169802
HP:0001376	Limitation of joint mobility	3977	LIFR	ORPHA:3206
HP:0001376	Limitation of joint mobility	2990	GUSB	OMIM:253220
HP:0001376	Limitation of joint mobility	170691	ADAMTS17	ORPHA:3449
HP:0001376	Limitation of joint mobility	4053	LTBP2	ORPHA:3449
HP:0001376	Limitation of joint mobility	81794	ADAMTS10	ORPHA:3449
HP:0001376	Limitation of joint mobility	727857	BHLHA9	ORPHA:3329
HP:0001376	Limitation of joint mobility	8200	GDF5	ORPHA:2639
HP:0001376	Limitation of joint mobility	658	BMPR1B	ORPHA:2639
HP:0001376	Limitation of joint mobility	875	CBS	OMIM:236200
HP:0001376	Limitation of joint mobility	4621	MYH3	ORPHA:2990
HP:0001376	Limitation of joint mobility	1146	CHRNG	ORPHA:2990
HP:0001376	Limitation of joint mobility	10225	CD96	ORPHA:1308
HP:0001376	Limitation of joint mobility	64127	NOD2	ORPHA:90340
HP:0001376	Limitation of joint mobility	1302	COL11A2	ORPHA:1427
HP:0001376	Limitation of joint mobility	23529	CLCF1	ORPHA:1545
HP:0001376	Limitation of joint mobility	9244	CRLF1	ORPHA:1545
HP:0001376	Limitation of joint mobility	9051	PSTPIP1	ORPHA:69126
HP:0001376	Limitation of joint mobility	4982	TNFRSF11B	ORPHA:1416
HP:0001376	Limitation of joint mobility	56172	ANKH	ORPHA:1416
HP:0001376	Limitation of joint mobility	6424	SFRP4	OMIM:265900
HP:0001376	Limitation of joint mobility	85301	COL27A1	OMIM:615155
HP:0001376	Limitation of joint mobility	4010	LMX1B	ORPHA:2614
HP:0001376	Limitation of joint mobility	4010	LMX1B	OMIM:161200
HP:0001376	Limitation of joint mobility	6023	RMRP	OMIM:250250
HP:0001376	Limitation of joint mobility	6023	RMRP	ORPHA:175
HP:0001376	Limitation of joint mobility	6023	RMRP	OMIM:607095
HP:0001376	Limitation of joint mobility	89970	RSPRY1	OMIM:616723
HP:0001376	Limitation of joint mobility	89970	RSPRY1	ORPHA:457395
HP:0001376	Limitation of joint mobility	90459	ERI1	OMIM:620663
HP:0001376	Limitation of joint mobility	10274	STAG1	ORPHA:502434
HP:0001376	Limitation of joint mobility	538	ATP7A	OMIM:304150
HP:0001376	Limitation of joint mobility	4796	TONSL	ORPHA:93357
HP:0001376	Limitation of joint mobility	4796	TONSL	OMIM:271510
HP:0001376	Limitation of joint mobility	10060	ABCC9	OMIM:619719
HP:0001376	Limitation of joint mobility	5594	MAPK1	OMIM:619087
HP:0001376	Limitation of joint mobility	54928	BPNT2	OMIM:614078
HP:0001376	Limitation of joint mobility	83737	ITCH	OMIM:613385
HP:0001376	Limitation of joint mobility	55790	CSGALNACT1	OMIM:618870
HP:0001376	Limitation of joint mobility	1299	COL9A3	OMIM:600969
HP:0001376	Limitation of joint mobility	2782	GNB1	OMIM:616973
HP:0001376	Limitation of joint mobility	7030	TFE3	OMIM:301066
HP:0001376	Limitation of joint mobility	2317	FLNB	OMIM:272460
HP:0001376	Limitation of joint mobility	633	BGN	OMIM:300106
HP:0001376	Limitation of joint mobility	83452	RAB33B	OMIM:615222
HP:0001376	Limitation of joint mobility	6999	TDO2	OMIM:600627
HP:0001376	Limitation of joint mobility	55012	PPP2R3C	OMIM:618419
HP:0001376	Limitation of joint mobility	200734	SPRED2	OMIM:619745
HP:0001376	Limitation of joint mobility	3930	LBR	OMIM:618019
HP:0001376	Limitation of joint mobility	5116	PCNT	OMIM:210720
HP:0001376	Limitation of joint mobility	6874	TAF4	OMIM:620450
HP:0001376	Limitation of joint mobility	157570	ESCO2	OMIM:216100
HP:0001376	Limitation of joint mobility	26191	PTPN22	ORPHA:397
HP:0001376	Limitation of joint mobility	26191	PTPN22	ORPHA:85408
HP:0001376	Limitation of joint mobility	26191	PTPN22	OMIM:180300
HP:0001376	Limitation of joint mobility	3106	HLA-B	ORPHA:397
HP:0001376	Limitation of joint mobility	3106	HLA-B	ORPHA:29207
HP:0001376	Limitation of joint mobility	3123	HLA-DRB1	ORPHA:397
HP:0001376	Limitation of joint mobility	8974	P4HA2	ORPHA:397
HP:0001376	Limitation of joint mobility	259232	NALCN	ORPHA:2053
HP:0001376	Limitation of joint mobility	259232	NALCN	ORPHA:1147
HP:0001376	Limitation of joint mobility	259232	NALCN	ORPHA:1146
HP:0001376	Limitation of joint mobility	6910	TBX5	ORPHA:392
HP:0001376	Limitation of joint mobility	54507	ADAMTSL4	ORPHA:1885
HP:0001376	Limitation of joint mobility	4204	MECP2	ORPHA:1762
HP:0001376	Limitation of joint mobility	118429	ANTXR2	ORPHA:2176
HP:0001376	Limitation of joint mobility	118429	ANTXR2	ORPHA:2028
HP:0001376	Limitation of joint mobility	2720	GLB1	OMIM:230600
HP:0001376	Limitation of joint mobility	2720	GLB1	OMIM:253010
HP:0001376	Limitation of joint mobility	2720	GLB1	OMIM:230500
HP:0001376	Limitation of joint mobility	81839	VANGL1	ORPHA:3027
HP:0001376	Limitation of joint mobility	80199	FUZ	ORPHA:3027
HP:0001376	Limitation of joint mobility	4125	MAN2B1	ORPHA:309282
HP:0001376	Limitation of joint mobility	6775	STAT4	ORPHA:85408
HP:0001376	Limitation of joint mobility	3560	IL2RB	ORPHA:85408
HP:0001376	Limitation of joint mobility	79722	ANKRD55	ORPHA:85408
HP:0001376	Limitation of joint mobility	919	CD247	ORPHA:85408
HP:0001376	Limitation of joint mobility	3559	IL2RA	ORPHA:85408
HP:0001376	Limitation of joint mobility	5771	PTPN2	ORPHA:85408
HP:0001376	Limitation of joint mobility	72	ACTG2	ORPHA:2604
HP:0001376	Limitation of joint mobility	224	ALDH3A2	ORPHA:816
HP:0001376	Limitation of joint mobility	2314	FLII	ORPHA:819
HP:0001376	Limitation of joint mobility	23096	IQSEC2	ORPHA:819
HP:0001376	Limitation of joint mobility	10743	RAI1	ORPHA:819
HP:0001376	Limitation of joint mobility	10522	DEAF1	ORPHA:819
HP:0001376	Limitation of joint mobility	84572	GNPTG	OMIM:252605
HP:0001376	Limitation of joint mobility	65082	VPS33A	ORPHA:505248
HP:0001376	Limitation of joint mobility	5745	PTH1R	ORPHA:296
HP:0001376	Limitation of joint mobility	3418	IDH2	ORPHA:296
HP:0001376	Limitation of joint mobility	3417	IDH1	ORPHA:296
HP:0001376	Limitation of joint mobility	5119	CHMP1A	OMIM:614961
HP:0001376	Limitation of joint mobility	9927	MFN2	ORPHA:2398
HP:0001376	Limitation of joint mobility	340061	STING1	OMIM:615934
HP:0001376	Limitation of joint mobility	4054	LTBP3	ORPHA:969
HP:0001376	Limitation of joint mobility	546	ATRX	ORPHA:847
HP:0001376	Limitation of joint mobility	9217	VAPB	ORPHA:209335
HP:0001376	Limitation of joint mobility	222663	SCUBE3	OMIM:619184
HP:0001376	Limitation of joint mobility	175	AGA	ORPHA:93
HP:0001376	Limitation of joint mobility	9241	NOG	ORPHA:3237
HP:0001376	Limitation of joint mobility	2254	FGF9	ORPHA:3237
HP:0001376	Limitation of joint mobility	112476	PRRT2	ORPHA:98810
HP:0001376	Limitation of joint mobility	25953	PNKD	ORPHA:98810
HP:0001376	Limitation of joint mobility	10585	POMT1	OMIM:609308
HP:0001376	Limitation of joint mobility	4318	MMP9	ORPHA:1040
HP:0001376	Limitation of joint mobility	4322	MMP13	ORPHA:1040
HP:0001376	Limitation of joint mobility	6804	STX1A	ORPHA:904
HP:0001376	Limitation of joint mobility	7461	CLIP2	ORPHA:904
HP:0001376	Limitation of joint mobility	84277	DNAJC30	ORPHA:904
HP:0001376	Limitation of joint mobility	8468	FKBP6	ORPHA:904
HP:0001376	Limitation of joint mobility	5982	RFC2	ORPHA:904
HP:0001376	Limitation of joint mobility	2969	GTF2I	ORPHA:904
HP:0001376	Limitation of joint mobility	3984	LIMK1	ORPHA:904
HP:0001376	Limitation of joint mobility	9569	GTF2IRD1	ORPHA:904
HP:0001376	Limitation of joint mobility	155382	VPS37D	ORPHA:904
HP:0001376	Limitation of joint mobility	155368	METTL27	ORPHA:904
HP:0001376	Limitation of joint mobility	114049	BUD23	ORPHA:904
HP:0001376	Limitation of joint mobility	7458	EIF4H	ORPHA:904
HP:0001376	Limitation of joint mobility	84163	GTF2IRD2	ORPHA:904
HP:0001376	Limitation of joint mobility	26608	TBL2	ORPHA:904
HP:0001376	Limitation of joint mobility	653361	NCF1	ORPHA:904
HP:0001376	Limitation of joint mobility	135886	TMEM270	ORPHA:904
HP:0001376	Limitation of joint mobility	9031	BAZ1B	ORPHA:904
HP:0001376	Limitation of joint mobility	2006	ELN	ORPHA:904
HP:0001376	Limitation of joint mobility	5590	PRKCZ	ORPHA:1606
HP:0001376	Limitation of joint mobility	2563	GABRD	ORPHA:1606
HP:0001376	Limitation of joint mobility	23013	SPEN	ORPHA:1606
HP:0001376	Limitation of joint mobility	8510	MMP23B	ORPHA:1606
HP:0001376	Limitation of joint mobility	7798	LUZP1	ORPHA:1606
HP:0001376	Limitation of joint mobility	6497	SKI	ORPHA:1606
HP:0001376	Limitation of joint mobility	6497	SKI	ORPHA:2462
HP:0001376	Limitation of joint mobility	10630	PDPN	ORPHA:1606
HP:0001376	Limitation of joint mobility	10277	UBE4B	ORPHA:1606
HP:0001376	Limitation of joint mobility	8514	KCNAB2	ORPHA:1606
HP:0001376	Limitation of joint mobility	473	RERE	ORPHA:1606
HP:0001376	Limitation of joint mobility	63976	PRDM16	ORPHA:1606
HP:0001376	Limitation of joint mobility	54897	CASZ1	ORPHA:1606
HP:0001376	Limitation of joint mobility	493856	CISD2	ORPHA:3463
HP:0001376	Limitation of joint mobility	7466	WFS1	ORPHA:3463
HP:0001376	Limitation of joint mobility	9719	ADAMTSL2	OMIM:231050
HP:0001376	Limitation of joint mobility	9719	ADAMTSL2	ORPHA:1901
HP:0001376	Limitation of joint mobility	7486	WRN	ORPHA:902
HP:0001376	Limitation of joint mobility	285362	SUMF1	ORPHA:585
HP:0001376	Limitation of joint mobility	10436	EMG1	ORPHA:1270
HP:0001376	Limitation of joint mobility	9555	MACROH2A1	ORPHA:1275
HP:0001376	Limitation of joint mobility	5307	PITX1	ORPHA:1275
HP:0001376	Limitation of joint mobility	7140	TNNT3	ORPHA:1147
HP:0001376	Limitation of joint mobility	7140	TNNT3	ORPHA:1146
HP:0001376	Limitation of joint mobility	7169	TPM2	ORPHA:1147
HP:0001376	Limitation of joint mobility	7169	TPM2	ORPHA:1146
HP:0001376	Limitation of joint mobility	7136	TNNI2	ORPHA:1147
HP:0001376	Limitation of joint mobility	7136	TNNI2	ORPHA:1146
HP:0001376	Limitation of joint mobility	23483	TGDS	ORPHA:1388
HP:0001376	Limitation of joint mobility	4604	MYBPC1	ORPHA:1146
HP:0001376	Limitation of joint mobility	654	BMP6	ORPHA:465508
HP:0001376	Limitation of joint mobility	3077	HFE	ORPHA:465508
HP:0001376	Limitation of joint mobility	4882	NPR2	ORPHA:40
HP:0001376	Limitation of joint mobility	100151683	RNU4ATAC	ORPHA:1824
HP:0001376	Limitation of joint mobility	3586	IL10	OMIM:180300
HP:0001376	Limitation of joint mobility	6583	SLC22A4	OMIM:180300
HP:0001376	Limitation of joint mobility	4261	CIITA	OMIM:180300
HP:0001376	Limitation of joint mobility	51744	CD244	OMIM:180300
HP:0001376	Limitation of joint mobility	4795	NFKBIL1	OMIM:180300
HP:0001376	Limitation of joint mobility	2273	FHL1	ORPHA:98863
HP:0001376	Limitation of joint mobility	2010	EMD	ORPHA:98863
HP:0001376	Limitation of joint mobility	60681	FKBP10	ORPHA:1149
HP:0001376	Limitation of joint mobility	60681	FKBP10	ORPHA:2771
HP:0001376	Limitation of joint mobility	64324	NSD1	ORPHA:3447
HP:0001376	Limitation of joint mobility	23512	SUZ12	ORPHA:3447
HP:0001376	Limitation of joint mobility	2146	EZH2	ORPHA:3447
HP:0001376	Limitation of joint mobility	3081	HGD	ORPHA:56
HP:0001376	Limitation of joint mobility	10262	SF3B4	ORPHA:245
HP:0001376	Limitation of joint mobility	6473	SHOX	ORPHA:240
HP:0001376	Limitation of joint mobility	57724	EPG5	ORPHA:1493
HP:0001376	Limitation of joint mobility	2201	FBN2	ORPHA:115
HP:0001376	Limitation of joint mobility	79188	TMEM43	ORPHA:98853
HP:0001376	Limitation of joint mobility	23345	SYNE1	ORPHA:98853
HP:0001376	Limitation of joint mobility	23224	SYNE2	ORPHA:98853
HP:0001376	Limitation of joint mobility	6448	SGSH	OMIM:252900
HP:0001376	Limitation of joint mobility	4047	LSS	ORPHA:1366
HP:0001376	Limitation of joint mobility	256297	PTF1A	OMIM:609069
HP:0001376	Limitation of joint mobility	4148	MATN3	ORPHA:93311
HP:0001376	Limitation of joint mobility	79650	USB1	OMIM:604173
HP:0001376	Limitation of joint mobility	411	ARSB	OMIM:253200
HP:0001376	Limitation of joint mobility	443	ASPA	ORPHA:314911
HP:0001376	Limitation of joint mobility	4952	OCRL	ORPHA:534
HP:0001376	Limitation of joint mobility	5077	PAX3	ORPHA:896
HP:0001376	Limitation of joint mobility	2068	ERCC2	ORPHA:1466
HP:0001376	Limitation of joint mobility	2067	ERCC1	ORPHA:1466
HP:0001376	Limitation of joint mobility	2073	ERCC5	ORPHA:1466
HP:0001376	Limitation of joint mobility	9509	ADAMTS2	ORPHA:1901
HP:0001376	Limitation of joint mobility	2743	GLRB	ORPHA:3197
HP:0001376	Limitation of joint mobility	2741	GLRA1	ORPHA:3197
HP:0001376	Limitation of joint mobility	10243	GPHN	ORPHA:3197
HP:0001376	Limitation of joint mobility	84896	ATAD1	ORPHA:3197
HP:0001376	Limitation of joint mobility	9152	SLC6A5	ORPHA:3197
HP:0001376	Limitation of joint mobility	8883	NAE1	OMIM:620210
HP:0001376	Limitation of joint mobility	57167	SALL4	ORPHA:2307
HP:0001376	Limitation of joint mobility	59341	TRPV4	ORPHA:1216
HP:0001376	Limitation of joint mobility	59341	TRPV4	ORPHA:2635
HP:0001376	Limitation of joint mobility	23476	BRD4	ORPHA:199
HP:0001376	Limitation of joint mobility	9126	SMC3	ORPHA:199
HP:0001376	Limitation of joint mobility	8243	SMC1A	ORPHA:199
HP:0001376	Limitation of joint mobility	6878	TAF6	ORPHA:199
HP:0001376	Limitation of joint mobility	25836	NIPBL	ORPHA:199
HP:0001376	Limitation of joint mobility	55869	HDAC8	ORPHA:199
HP:0001376	Limitation of joint mobility	5885	RAD21	ORPHA:199
HP:0001376	Limitation of joint mobility	4659	PPP1R12A	OMIM:618820
HP:0001376	Limitation of joint mobility	285590	SH3PXD2B	ORPHA:137834
HP:0001376	Limitation of joint mobility	5352	PLOD2	ORPHA:2771
HP:0001376	Limitation of joint mobility	207	AKT1	ORPHA:744
HP:0001376	Limitation of joint mobility	10651	MTX2	OMIM:619127
HP:0001376	Limitation of joint mobility	54676	GTPBP2	OMIM:617988
HP:0001376	Limitation of joint mobility	2799	GNS	OMIM:252940
HP:0001376	Limitation of joint mobility	50515	CHST11	OMIM:618167
HP:0001376	Limitation of joint mobility	3889	KRT83	OMIM:617756
HP:0001376	Limitation of joint mobility	3664	IRF6	ORPHA:1300
HP:0001376	Limitation of joint mobility	8815	BANF1	OMIM:614008
HP:0001376	Limitation of joint mobility	138050	HGSNAT	OMIM:252930
HP:0001376	Limitation of joint mobility	22930	RAB3GAP1	ORPHA:2510
HP:0001376	Limitation of joint mobility	25782	RAB3GAP2	ORPHA:2510
HP:0001376	Limitation of joint mobility	22931	RAB18	ORPHA:2510
HP:0001376	Limitation of joint mobility	128637	TBC1D20	ORPHA:2510
HP:0001376	Limitation of joint mobility	71	ACTG1	ORPHA:2995
HP:0001376	Limitation of joint mobility	60	ACTB	ORPHA:2995
HP:0001376	Limitation of joint mobility	3897	L1CAM	ORPHA:2182
HP:0001376	Limitation of joint mobility	3636	INPPL1	ORPHA:2746
HP:0001376	Limitation of joint mobility	5130	PCYT1A	OMIM:608940
HP:0001376	Limitation of joint mobility	54829	ASPN	OMIM:607850
HP:0001376	Limitation of joint mobility	4669	NAGLU	OMIM:252920
HP:0001376	Limitation of joint mobility	9898	UBAP2L	OMIM:620494
HP:0001376	Limitation of joint mobility	1278	COL1A2	ORPHA:1899
HP:0001376	Limitation of joint mobility	1277	COL1A1	ORPHA:1899
HP:0001376	Limitation of joint mobility	11160	ERLIN2	ORPHA:280384
HP:0001376	Limitation of joint mobility	11160	ERLIN2	ORPHA:209951
HP:0001376	Limitation of joint mobility	4921	DDR2	OMIM:271665
HP:0001376	Limitation of joint mobility	4921	DDR2	OMIM:618175
HP:0001376	Limitation of joint mobility	57190	SELENON	ORPHA:97244
HP:0001376	Limitation of joint mobility	57190	SELENON	ORPHA:2020
HP:0001376	Limitation of joint mobility	58	ACTA1	ORPHA:97244
HP:0001376	Limitation of joint mobility	58	ACTA1	ORPHA:2020
HP:0001376	Limitation of joint mobility	83932	SPRTN	OMIM:616200
HP:0001376	Limitation of joint mobility	1303	COL12A1	ORPHA:75840
HP:0001376	Limitation of joint mobility	1303	COL12A1	ORPHA:536516
HP:0001376	Limitation of joint mobility	1303	COL12A1	ORPHA:610
HP:0001376	Limitation of joint mobility	1291	COL6A1	ORPHA:75840
HP:0001376	Limitation of joint mobility	1291	COL6A1	ORPHA:610
HP:0001376	Limitation of joint mobility	1292	COL6A2	ORPHA:75840
HP:0001376	Limitation of joint mobility	1292	COL6A2	ORPHA:610
HP:0001376	Limitation of joint mobility	1293	COL6A3	ORPHA:75840
HP:0001376	Limitation of joint mobility	1293	COL6A3	ORPHA:610
HP:0001376	Limitation of joint mobility	6840	SVIL	OMIM:619040
HP:0001376	Limitation of joint mobility	55315	SLC29A3	OMIM:602782
HP:0001376	Limitation of joint mobility	825	CAPN3	ORPHA:267
HP:0001376	Limitation of joint mobility	91179	SCARF2	OMIM:600920
HP:0001376	Limitation of joint mobility	3714	JAG2	OMIM:619566
HP:0001376	Limitation of joint mobility	6536	SLC6A9	OMIM:617301
HP:0001376	Limitation of joint mobility	5831	PYCR1	OMIM:614438
HP:0001376	Limitation of joint mobility	5351	PLOD1	ORPHA:1900
HP:0001376	Limitation of joint mobility	7020	TFAP2A	OMIM:113620
HP:0001376	Limitation of joint mobility	4633	MYL2	ORPHA:2020
HP:0001376	Limitation of joint mobility	3679	ITGA7	ORPHA:2020
HP:0001376	Limitation of joint mobility	9200	HACD1	ORPHA:2020
HP:0001376	Limitation of joint mobility	7170	TPM3	ORPHA:2020
HP:0001376	Limitation of joint mobility	51776	MAP3K20	ORPHA:2020
HP:0001376	Limitation of joint mobility	127833	SYT2	OMIM:619461
HP:0001376	Limitation of joint mobility	54681	P4HTM	OMIM:618493
HP:0001376	Limitation of joint mobility	5277	PIGA	OMIM:300868
HP:0001376	Limitation of joint mobility	8985	PLOD3	OMIM:612394
HP:0001376	Limitation of joint mobility	545	ATR	OMIM:210600
HP:0001376	Limitation of joint mobility	3908	LAMA2	OMIM:618138
HP:0001376	Limitation of joint mobility	2783	GNB2	OMIM:619503
HP:0001376	Limitation of joint mobility	4632	MYL1	OMIM:618414
HP:0001376	Limitation of joint mobility	9653	HS2ST1	OMIM:619194
HP:0001376	Limitation of joint mobility	84065	TMEM222	OMIM:619470
HP:0001376	Limitation of joint mobility	3835	KIF22	ORPHA:93360
HP:0001376	Limitation of joint mobility	6628	SNRPB	OMIM:117650
HP:0001376	Limitation of joint mobility	29895	MYL11	OMIM:619110
HP:0001376	Limitation of joint mobility	340419	RSPO2	OMIM:618022
HP:0001376	Limitation of joint mobility	285175	UNC80	ORPHA:371364
HP:0001376	Limitation of joint mobility	84992	PIGY	OMIM:616809
HP:0001376	Limitation of joint mobility	2222	FDFT1	OMIM:618156
HP:0001376	Limitation of joint mobility	9215	LARGE1	OMIM:608840
HP:0001376	Limitation of joint mobility	1376	CPT2	OMIM:608836
HP:0001376	Limitation of joint mobility	342035	GLDN	OMIM:617194
HP:0001376	Limitation of joint mobility	339855	KY	OMIM:617114
HP:0001376	Limitation of joint mobility	5286	PIK3C2A	OMIM:618440
HP:0001376	Limitation of joint mobility	7317	UBA1	ORPHA:1145
HP:0001376	Limitation of joint mobility	23219	FBXO28	OMIM:619777
HP:0001376	Limitation of joint mobility	55681	SCYL2	ORPHA:1143
HP:0001376	Limitation of joint mobility	84570	COL25A1	ORPHA:1143
HP:0001376	Limitation of joint mobility	57222	ERGIC1	ORPHA:1143
HP:0001376	Limitation of joint mobility	7476	WNT7A	OMIM:276820
HP:0001376	Limitation of joint mobility	64116	SLC39A8	ORPHA:468699
HP:0001376	Limitation of joint mobility	5832	ALDH18A1	ORPHA:447757
HP:0001376	Limitation of joint mobility	6913	TBX15	ORPHA:93333
HP:0001376	Limitation of joint mobility	9469	CHST3	OMIM:245600
HP:0001376	Limitation of joint mobility	26229	B3GAT3	OMIM:245600
HP:0001376	Limitation of joint mobility	91137	SLC25A46	OMIM:619303
HP:0001376	Limitation of joint mobility	2706	GJB2	OMIM:148210
HP:0001376	Limitation of joint mobility	5696	PSMB8	OMIM:256040
HP:0001376	Limitation of joint mobility	1756	DMD	ORPHA:206546
HP:0001376	Limitation of joint mobility	203859	ANO5	ORPHA:206549
HP:0001376	Limitation of joint mobility	2137	EXTL3	ORPHA:508533
HP:0001376	Limitation of joint mobility	145173	B3GLCT	OMIM:261540
HP:0001376	Limitation of joint mobility	6885	MAP3K7	ORPHA:1826
HP:0001376	Limitation of joint mobility	8291	DYSF	ORPHA:268
HP:0001376	Limitation of joint mobility	9401	RECQL4	OMIM:218600
HP:0001376	Limitation of joint mobility	78989	COLEC11	OMIM:265050
HP:0001376	Limitation of joint mobility	5781	PTPN11	OMIM:151100
HP:0001376	Limitation of joint mobility	9427	ECEL1	OMIM:615065
HP:0001376	Limitation of joint mobility	27145	FILIP1	OMIM:620775
HP:0001376	Limitation of joint mobility	126792	B3GALT6	OMIM:615349
HP:0001376	Limitation of joint mobility	126792	B3GALT6	OMIM:271640
HP:0001376	Limitation of joint mobility	3265	HRAS	OMIM:218040
HP:0001376	Limitation of joint mobility	56896	DPYSL5	OMIM:619435
HP:0001376	Limitation of joint mobility	6335	SCN9A	ORPHA:33069
HP:0001376	Limitation of joint mobility	6335	SCN9A	ORPHA:36387
HP:0001376	Limitation of joint mobility	6326	SCN2A	ORPHA:33069
HP:0001376	Limitation of joint mobility	6326	SCN2A	ORPHA:36387
HP:0001376	Limitation of joint mobility	2554	GABRA1	ORPHA:33069
HP:0001376	Limitation of joint mobility	6323	SCN1A	ORPHA:33069
HP:0001376	Limitation of joint mobility	6323	SCN1A	ORPHA:36387
HP:0001376	Limitation of joint mobility	6324	SCN1B	ORPHA:33069
HP:0001376	Limitation of joint mobility	6324	SCN1B	ORPHA:36387
HP:0001376	Limitation of joint mobility	57526	PCDH19	ORPHA:33069
HP:0001376	Limitation of joint mobility	2566	GABRG2	ORPHA:33069
HP:0001376	Limitation of joint mobility	2566	GABRG2	ORPHA:36387
HP:0001376	Limitation of joint mobility	112755	STX1B	ORPHA:36387
HP:0001376	Limitation of joint mobility	348980	HCN1	ORPHA:36387
HP:0001376	Limitation of joint mobility	2258	FGF13	ORPHA:36387
HP:0001376	Limitation of joint mobility	84059	ADGRV1	ORPHA:36387
HP:0001376	Limitation of joint mobility	2260	FGFR1	OMIM:101600
HP:0001376	Limitation of joint mobility	4593	MUSK	OMIM:208150
HP:0001376	Limitation of joint mobility	667	DST	OMIM:614653
HP:0001376	Limitation of joint mobility	1855	DVL1	OMIM:616331
HP:0001376	Limitation of joint mobility	4784	NFIX	OMIM:602535
HP:0001376	Limitation of joint mobility	7138	TNNT1	OMIM:605355
HP:0001376	Limitation of joint mobility	51305	KCNK9	ORPHA:166108
HP:0001376	Limitation of joint mobility	27316	RBMX	OMIM:309555
HP:0001376	Limitation of joint mobility	10216	PRG4	OMIM:208250
HP:0001376	Limitation of joint mobility	9968	MED12	ORPHA:93932
HP:0001376	Limitation of joint mobility	7474	WNT5A	OMIM:180700
HP:0001376	Limitation of joint mobility	54332	GDAP1	ORPHA:99948
HP:0001376	Limitation of joint mobility	9987	HNRNPDL	OMIM:609115
HP:0001376	Limitation of joint mobility	3848	KRT1	ORPHA:530838
HP:0001376	Limitation of joint mobility	80207	OPA3	ORPHA:67036
HP:0001376	Limitation of joint mobility	8292	COLQ	ORPHA:98915
HP:0001376	Limitation of joint mobility	3913	LAMB2	ORPHA:98915
HP:0001376	Limitation of joint mobility	9499	MYOT	ORPHA:266
HP:0001376	Limitation of joint mobility	2535	FZD2	OMIM:164745
HP:0001376	Limitation of joint mobility	7415	VCP	ORPHA:435387
HP:0001376	Limitation of joint mobility	2318	FLNC	ORPHA:63273
HP:0001376	Limitation of joint mobility	4920	ROR2	OMIM:268310
HP:0001376	Limitation of joint mobility	4233	MET	OMIM:620019
HP:0001376	Limitation of joint mobility	4091	SMAD6	OMIM:179300
HP:0001376	Limitation of joint mobility	10584	COLEC10	ORPHA:293843
HP:0001376	Limitation of joint mobility	5648	MASP1	ORPHA:293843
HP:0001376	Limitation of joint mobility	2122	MECOM	OMIM:616738
HP:0001376	Limitation of joint mobility	3207	HOXA11	OMIM:605432
HP:0001376	Limitation of joint mobility	387733	IFITM5	OMIM:610967
HP:0001376	Limitation of joint mobility	91461	PKDCC	OMIM:618821
HP:0001376	Limitation of joint mobility	6442	SGCA	ORPHA:62
HP:0001376	Limitation of joint mobility	10020	GNE	ORPHA:602
HP:0001376	Limitation of joint mobility	6812	STXBP1	ORPHA:495818
HP:0001376	Limitation of joint mobility	145258	GSC	OMIM:602471
HP:0001376	Limitation of joint mobility	4313	MMP2	OMIM:259600
HP:0001376	Limitation of joint mobility	7273	TTN	ORPHA:178464
HP:0001376	Limitation of joint mobility	123606	NIPA1	ORPHA:100988
HP:0001376	Limitation of joint mobility	10082	GPC6	OMIM:258315
HP:0001376	Limitation of joint mobility	427	ASAH1	OMIM:228000
HP:0001376	Limitation of joint mobility	1861	TOR1A	OMIM:618947
HP:0001376	Limitation of joint mobility	649	BMP1	OMIM:614856
HP:0001376	Limitation of joint mobility	7337	UBE3A	ORPHA:98794
HP:0001376	Limitation of joint mobility	4948	OCA2	ORPHA:98794
HP:0001376	Limitation of joint mobility	91754	NEK9	OMIM:617022
HP:0001376	Limitation of joint mobility	4722	NDUFS3	OMIM:618230
HP:0001376	Limitation of joint mobility	22943	DKK1	ORPHA:268882
HP:0001376	Limitation of joint mobility	54820	NDE1	ORPHA:2177
HP:0001376	Limitation of joint mobility	6926	TBX3	OMIM:181450
HP:0001376	Limitation of joint mobility	26040	SETBP1	ORPHA:798
HP:0001376	Limitation of joint mobility	8398	PLA2G6	ORPHA:199351
HP:0001376	Limitation of joint mobility	57211	ADGRG6	OMIM:616503
HP:0001376	Limitation of joint mobility	51360	MBTPS2	ORPHA:659
HP:0001376	Limitation of joint mobility	162514	TRPV3	ORPHA:659
HP:0001376	Limitation of joint mobility	64065	PERP	ORPHA:659
HP:0001376	Limitation of joint mobility	2773	GNAI3	OMIM:602483
HP:0001376	Limitation of joint mobility	5167	ENPP1	OMIM:208000
HP:0001376	Limitation of joint mobility	9997	SCO2	OMIM:604377
HP:0001377	Limited elbow extension	1311	COMP	ORPHA:750
HP:0001377	Limited elbow extension	1311	COMP	OMIM:177170
HP:0001377	Limited elbow extension	1280	COL2A1	OMIM:271700
HP:0001377	Limited elbow extension	1280	COL2A1	ORPHA:1856
HP:0001377	Limited elbow extension	4322	MMP13	OMIM:602111
HP:0001377	Limited elbow extension	4882	NPR2	OMIM:602875
HP:0001377	Limited elbow extension	10262	SF3B4	OMIM:154400
HP:0001377	Limited elbow extension	6424	SFRP4	OMIM:265900
HP:0001377	Limited elbow extension	85301	COL27A1	OMIM:615155
HP:0001377	Limited elbow extension	80207	OPA3	ORPHA:67036
HP:0001377	Limited elbow extension	4010	LMX1B	ORPHA:2614
HP:0001377	Limited elbow extension	4010	LMX1B	OMIM:161200
HP:0001377	Limited elbow extension	6023	RMRP	OMIM:250250
HP:0001377	Limited elbow extension	6023	RMRP	ORPHA:175
HP:0001377	Limited elbow extension	6023	RMRP	OMIM:607095
HP:0001377	Limited elbow extension	89970	RSPRY1	OMIM:616723
HP:0001377	Limited elbow extension	89970	RSPRY1	ORPHA:457395
HP:0001377	Limited elbow extension	90459	ERI1	OMIM:620663
HP:0001377	Limited elbow extension	10274	STAG1	ORPHA:502434
HP:0001377	Limited elbow extension	538	ATP7A	OMIM:304150
HP:0001377	Limited elbow extension	4796	TONSL	ORPHA:93357
HP:0001377	Limited elbow extension	4796	TONSL	OMIM:271510
HP:0001377	Limited elbow extension	10060	ABCC9	OMIM:619719
HP:0001377	Limited elbow extension	5447	POR	ORPHA:95699
HP:0001377	Limited elbow extension	4148	MATN3	OMIM:608728
HP:0001377	Limited elbow extension	4148	MATN3	ORPHA:156728
HP:0001377	Limited elbow extension	55869	HDAC8	OMIM:300882
HP:0001377	Limited elbow extension	100151683	RNU4ATAC	OMIM:226960
HP:0001377	Limited elbow extension	5594	MAPK1	OMIM:619087
HP:0001377	Limited elbow extension	54928	BPNT2	OMIM:614078
HP:0001377	Limited elbow extension	83737	ITCH	OMIM:613385
HP:0001377	Limited elbow extension	55790	CSGALNACT1	OMIM:618870
HP:0001377	Limited elbow extension	1299	COL9A3	OMIM:600969
HP:0001377	Limited elbow extension	2782	GNB1	OMIM:616973
HP:0001377	Limited elbow extension	2263	FGFR2	OMIM:123790
HP:0001377	Limited elbow extension	2201	FBN2	OMIM:121050
HP:0001377	Limited elbow extension	23529	CLCF1	OMIM:610313
HP:0001377	Limited elbow extension	7030	TFE3	OMIM:301066
HP:0001377	Limited elbow extension	2200	FBN1	OMIM:154700
HP:0001377	Limited elbow extension	10082	GPC6	OMIM:258315
HP:0001377	Limited elbow extension	2261	FGFR3	OMIM:146000
HP:0001377	Limited elbow extension	2261	FGFR3	OMIM:100800
HP:0001377	Limited elbow extension	2261	FGFR3	ORPHA:15
HP:0001377	Limited elbow extension	25836	NIPBL	OMIM:122470
HP:0001377	Limited elbow extension	2146	EZH2	OMIM:277590
HP:0001377	Limited elbow extension	2317	FLNB	OMIM:272460
HP:0001377	Limited elbow extension	6910	TBX5	OMIM:142900
HP:0001377	Limited elbow extension	633	BGN	OMIM:300106
HP:0001377	Limited elbow extension	83452	RAB33B	OMIM:615222
HP:0001377	Limited elbow extension	6999	TDO2	OMIM:600627
HP:0001377	Limited elbow extension	2316	FLNA	OMIM:309350
HP:0001377	Limited elbow extension	2316	FLNA	OMIM:311300
HP:0001377	Limited elbow extension	55012	PPP2R3C	OMIM:618419
HP:0001377	Limited elbow extension	200734	SPRED2	OMIM:619745
HP:0001377	Limited elbow extension	3930	LBR	OMIM:618019
HP:0001377	Limited elbow extension	5116	PCNT	OMIM:210720
HP:0001377	Limited elbow extension	9244	CRLF1	OMIM:272430
HP:0001377	Limited elbow extension	6874	TAF4	OMIM:620450
HP:0001377	Limited elbow extension	157570	ESCO2	OMIM:216100
HP:0001377	Limited elbow extension	54808	DYM	ORPHA:239
HP:0001377	Limited elbow extension	51305	KCNK9	ORPHA:166108
HP:0001377	Limited elbow extension	2535	FZD2	OMIM:164745
HP:0001377	Limited elbow extension	9968	MED12	ORPHA:93932
HP:0001377	Limited elbow extension	7474	WNT5A	OMIM:180700
HP:0001377	Limited elbow extension	1855	DVL1	OMIM:180700
HP:0001384	Abnormal hip joint morphology	9361	LONP1	OMIM:600373
HP:0001384	Abnormal hip joint morphology	9361	LONP1	ORPHA:1458
HP:0001384	Abnormal hip joint morphology	64840	PORCN	OMIM:305600
HP:0001384	Abnormal hip joint morphology	6628	SNRPB	OMIM:117650
HP:0001384	Abnormal hip joint morphology	134218	DNAJC21	OMIM:617052
HP:0001384	Abnormal hip joint morphology	1182	CLCN3	OMIM:619512
HP:0001384	Abnormal hip joint morphology	63895	PIEZO2	OMIM:114300
HP:0001384	Abnormal hip joint morphology	2138	EYA1	OMIM:113650
HP:0001384	Abnormal hip joint morphology	6495	SIX1	OMIM:113650
HP:0001384	Abnormal hip joint morphology	84627	ZNF469	OMIM:229200
HP:0001384	Abnormal hip joint morphology	5048	PAFAH1B1	ORPHA:217385
HP:0001384	Abnormal hip joint morphology	7531	YWHAE	ORPHA:217385
HP:0001384	Abnormal hip joint morphology	23363	OBSL1	ORPHA:2616
HP:0001384	Abnormal hip joint morphology	83987	CCDC8	ORPHA:2616
HP:0001384	Abnormal hip joint morphology	8195	MKKS	OMIM:236700
HP:0001384	Abnormal hip joint morphology	1131	CHRM3	ORPHA:2970
HP:0001384	Abnormal hip joint morphology	1131	CHRM3	OMIM:100100
HP:0001384	Abnormal hip joint morphology	10060	ABCC9	OMIM:619719
HP:0001384	Abnormal hip joint morphology	23545	ATP6V0A2	OMIM:219200
HP:0001384	Abnormal hip joint morphology	23545	ATP6V0A2	ORPHA:357074
HP:0001384	Abnormal hip joint morphology	23545	ATP6V0A2	ORPHA:2834
HP:0001384	Abnormal hip joint morphology	23545	ATP6V0A2	OMIM:278250
HP:0001384	Abnormal hip joint morphology	9401	RECQL4	OMIM:268400
HP:0001384	Abnormal hip joint morphology	89910	UBE3B	OMIM:244450
HP:0001384	Abnormal hip joint morphology	1723	DHODH	OMIM:263750
HP:0001384	Abnormal hip joint morphology	60482	SLC5A7	ORPHA:98914
HP:0001384	Abnormal hip joint morphology	4649	MYO9A	ORPHA:98914
HP:0001384	Abnormal hip joint morphology	1305	COL13A1	ORPHA:98914
HP:0001384	Abnormal hip joint morphology	1103	CHAT	ORPHA:98914
HP:0001384	Abnormal hip joint morphology	6576	SLC25A1	ORPHA:98914
HP:0001384	Abnormal hip joint morphology	6843	VAMP1	ORPHA:98914
HP:0001384	Abnormal hip joint morphology	375790	AGRN	ORPHA:98914
HP:0001384	Abnormal hip joint morphology	127833	SYT2	ORPHA:98914
HP:0001384	Abnormal hip joint morphology	6572	SLC18A3	ORPHA:98914
HP:0001384	Abnormal hip joint morphology	6616	SNAP25	ORPHA:98914
HP:0001384	Abnormal hip joint morphology	55768	NGLY1	ORPHA:404454
HP:0001384	Abnormal hip joint morphology	2273	FHL1	OMIM:300280
HP:0001384	Abnormal hip joint morphology	6904	TBCD	ORPHA:496641
HP:0001384	Abnormal hip joint morphology	7547	ZIC3	OMIM:306955
HP:0001384	Abnormal hip joint morphology	2239	GPC4	ORPHA:373
HP:0001384	Abnormal hip joint morphology	2719	GPC3	ORPHA:373
HP:0001384	Abnormal hip joint morphology	529	ATP6V1E1	ORPHA:357074
HP:0001384	Abnormal hip joint morphology	5528	PPP2R5D	ORPHA:457279
HP:0001384	Abnormal hip joint morphology	5528	PPP2R5D	OMIM:616355
HP:0001384	Abnormal hip joint morphology	8260	NAA10	OMIM:300855
HP:0001384	Abnormal hip joint morphology	50814	NSDHL	OMIM:308050
HP:0001384	Abnormal hip joint morphology	50628	GEMIN4	OMIM:617913
HP:0001384	Abnormal hip joint morphology	1281	COL3A1	ORPHA:286
HP:0001384	Abnormal hip joint morphology	9427	ECEL1	OMIM:615065
HP:0001384	Abnormal hip joint morphology	7067	THRA	OMIM:614450
HP:0001384	Abnormal hip joint morphology	4035	LRP1	OMIM:620690
HP:0001384	Abnormal hip joint morphology	8838	CCN6	ORPHA:1159
HP:0001384	Abnormal hip joint morphology	6775	STAT4	ORPHA:85408
HP:0001384	Abnormal hip joint morphology	3560	IL2RB	ORPHA:85408
HP:0001384	Abnormal hip joint morphology	79722	ANKRD55	ORPHA:85408
HP:0001384	Abnormal hip joint morphology	26191	PTPN22	ORPHA:85408
HP:0001384	Abnormal hip joint morphology	919	CD247	ORPHA:85408
HP:0001384	Abnormal hip joint morphology	3559	IL2RA	ORPHA:85408
HP:0001384	Abnormal hip joint morphology	5771	PTPN2	ORPHA:85408
HP:0001384	Abnormal hip joint morphology	1280	COL2A1	ORPHA:1856
HP:0001384	Abnormal hip joint morphology	5167	ENPP1	ORPHA:51608
HP:0001384	Abnormal hip joint morphology	368	ABCC6	ORPHA:51608
HP:0001384	Abnormal hip joint morphology	4148	MATN3	ORPHA:93311
HP:0001384	Abnormal hip joint morphology	1299	COL9A3	OMIM:600969
HP:0001384	Abnormal hip joint morphology	55703	POLR3B	OMIM:614381
HP:0001384	Abnormal hip joint morphology	10262	SF3B4	OMIM:154400
HP:0001384	Abnormal hip joint morphology	10054	UBA2	OMIM:619959
HP:0001384	Abnormal hip joint morphology	652	BMP4	ORPHA:828
HP:0001384	Abnormal hip joint morphology	1303	COL12A1	ORPHA:75840
HP:0001384	Abnormal hip joint morphology	1303	COL12A1	OMIM:616471
HP:0001384	Abnormal hip joint morphology	1291	COL6A1	ORPHA:75840
HP:0001384	Abnormal hip joint morphology	1291	COL6A1	OMIM:254090
HP:0001384	Abnormal hip joint morphology	1292	COL6A2	ORPHA:75840
HP:0001384	Abnormal hip joint morphology	1292	COL6A2	OMIM:620727
HP:0001384	Abnormal hip joint morphology	1293	COL6A3	ORPHA:75840
HP:0001384	Abnormal hip joint morphology	2317	FLNB	ORPHA:56305
HP:0001384	Abnormal hip joint morphology	2317	FLNB	OMIM:150250
HP:0001384	Abnormal hip joint morphology	4784	NFIX	ORPHA:447980
HP:0001384	Abnormal hip joint morphology	6662	SOX9	ORPHA:140
HP:0001384	Abnormal hip joint morphology	6662	SOX9	OMIM:114290
HP:0001384	Abnormal hip joint morphology	58	ACTA1	ORPHA:171436
HP:0001384	Abnormal hip joint morphology	7169	TPM2	ORPHA:171436
HP:0001384	Abnormal hip joint morphology	4703	NEB	ORPHA:171436
HP:0001384	Abnormal hip joint morphology	10324	KLHL41	ORPHA:171436
HP:0001384	Abnormal hip joint morphology	56203	LMOD3	ORPHA:171436
HP:0001384	Abnormal hip joint morphology	1073	CFL2	ORPHA:171436
HP:0001384	Abnormal hip joint morphology	6536	SLC6A9	OMIM:617301
HP:0001384	Abnormal hip joint morphology	1855	DVL1	OMIM:616331
HP:0001384	Abnormal hip joint morphology	1855	DVL1	ORPHA:3107
HP:0001384	Abnormal hip joint morphology	16	AARS1	OMIM:616339
HP:0001384	Abnormal hip joint morphology	1717	DHCR7	ORPHA:818
HP:0001384	Abnormal hip joint morphology	1717	DHCR7	OMIM:270400
HP:0001384	Abnormal hip joint morphology	9915	ARNT2	OMIM:615926
HP:0001384	Abnormal hip joint morphology	10225	CD96	OMIM:211750
HP:0001384	Abnormal hip joint morphology	79158	GNPTAB	OMIM:252500
HP:0001384	Abnormal hip joint morphology	79158	GNPTAB	ORPHA:576
HP:0001384	Abnormal hip joint morphology	4626	MYH8	ORPHA:3377
HP:0001384	Abnormal hip joint morphology	4626	MYH8	OMIM:158300
HP:0001384	Abnormal hip joint morphology	4038	LRP4	ORPHA:3258
HP:0001384	Abnormal hip joint morphology	324	APC	ORPHA:3258
HP:0001384	Abnormal hip joint morphology	1146	CHRNG	OMIM:265000
HP:0001384	Abnormal hip joint morphology	1351	COX8A	OMIM:619059
HP:0001384	Abnormal hip joint morphology	3899	AFF3	OMIM:619297
HP:0001384	Abnormal hip joint morphology	3572	IL6ST	OMIM:618523
HP:0001384	Abnormal hip joint morphology	55699	IARS2	ORPHA:436174
HP:0001384	Abnormal hip joint morphology	55699	IARS2	OMIM:616007
HP:0001384	Abnormal hip joint morphology	672	BRCA1	ORPHA:84
HP:0001384	Abnormal hip joint morphology	10459	MAD2L2	ORPHA:84
HP:0001384	Abnormal hip joint morphology	7516	XRCC2	ORPHA:84
HP:0001384	Abnormal hip joint morphology	29089	UBE2T	ORPHA:84
HP:0001384	Abnormal hip joint morphology	675	BRCA2	ORPHA:84
HP:0001384	Abnormal hip joint morphology	55120	FANCL	ORPHA:84
HP:0001384	Abnormal hip joint morphology	2177	FANCD2	ORPHA:84
HP:0001384	Abnormal hip joint morphology	2175	FANCA	ORPHA:84
HP:0001384	Abnormal hip joint morphology	2187	FANCB	ORPHA:84
HP:0001384	Abnormal hip joint morphology	2187	FANCB	ORPHA:3412
HP:0001384	Abnormal hip joint morphology	2176	FANCC	ORPHA:84
HP:0001384	Abnormal hip joint morphology	2178	FANCE	ORPHA:84
HP:0001384	Abnormal hip joint morphology	2188	FANCF	ORPHA:84
HP:0001384	Abnormal hip joint morphology	2189	FANCG	ORPHA:84
HP:0001384	Abnormal hip joint morphology	5888	RAD51	ORPHA:84
HP:0001384	Abnormal hip joint morphology	5889	RAD51C	ORPHA:84
HP:0001384	Abnormal hip joint morphology	55159	RFWD3	ORPHA:84
HP:0001384	Abnormal hip joint morphology	83990	BRIP1	ORPHA:84
HP:0001384	Abnormal hip joint morphology	57697	FANCM	ORPHA:84
HP:0001384	Abnormal hip joint morphology	79728	PALB2	ORPHA:84
HP:0001384	Abnormal hip joint morphology	84464	SLX4	ORPHA:84
HP:0001384	Abnormal hip joint morphology	2072	ERCC4	ORPHA:84
HP:0001384	Abnormal hip joint morphology	55215	FANCI	ORPHA:84
HP:0001384	Abnormal hip joint morphology	8200	GDF5	ORPHA:968
HP:0001384	Abnormal hip joint morphology	8200	GDF5	OMIM:201250
HP:0001384	Abnormal hip joint morphology	1277	COL1A1	ORPHA:287
HP:0001384	Abnormal hip joint morphology	1277	COL1A1	ORPHA:1899
HP:0001384	Abnormal hip joint morphology	1289	COL5A1	ORPHA:287
HP:0001384	Abnormal hip joint morphology	1290	COL5A2	ORPHA:287
HP:0001384	Abnormal hip joint morphology	57531	HACE1	ORPHA:464282
HP:0001384	Abnormal hip joint morphology	57531	HACE1	OMIM:616756
HP:0001384	Abnormal hip joint morphology	9896	FIG4	ORPHA:3472
HP:0001384	Abnormal hip joint morphology	9896	FIG4	OMIM:216340
HP:0001384	Abnormal hip joint morphology	55697	VAC14	ORPHA:3472
HP:0001384	Abnormal hip joint morphology	860	RUNX2	OMIM:119600
HP:0001384	Abnormal hip joint morphology	22872	SEC31A	OMIM:618651
HP:0001384	Abnormal hip joint morphology	10682	EBP	ORPHA:35173
HP:0001384	Abnormal hip joint morphology	28514	DLL1	ORPHA:93926
HP:0001384	Abnormal hip joint morphology	28514	DLL1	ORPHA:93924
HP:0001384	Abnormal hip joint morphology	28514	DLL1	ORPHA:93925
HP:0001384	Abnormal hip joint morphology	28514	DLL1	ORPHA:220386
HP:0001384	Abnormal hip joint morphology	2253	FGF8	ORPHA:93926
HP:0001384	Abnormal hip joint morphology	2253	FGF8	ORPHA:93924
HP:0001384	Abnormal hip joint morphology	2253	FGF8	ORPHA:93925
HP:0001384	Abnormal hip joint morphology	2253	FGF8	ORPHA:220386
HP:0001384	Abnormal hip joint morphology	6496	SIX3	ORPHA:93926
HP:0001384	Abnormal hip joint morphology	6496	SIX3	ORPHA:93924
HP:0001384	Abnormal hip joint morphology	6496	SIX3	ORPHA:93925
HP:0001384	Abnormal hip joint morphology	6496	SIX3	ORPHA:220386
HP:0001384	Abnormal hip joint morphology	7050	TGIF1	ORPHA:93926
HP:0001384	Abnormal hip joint morphology	7050	TGIF1	ORPHA:93924
HP:0001384	Abnormal hip joint morphology	7050	TGIF1	ORPHA:93925
HP:0001384	Abnormal hip joint morphology	7050	TGIF1	ORPHA:220386
HP:0001384	Abnormal hip joint morphology	4838	NODAL	ORPHA:93926
HP:0001384	Abnormal hip joint morphology	4838	NODAL	ORPHA:93924
HP:0001384	Abnormal hip joint morphology	4838	NODAL	ORPHA:93925
HP:0001384	Abnormal hip joint morphology	4838	NODAL	ORPHA:220386
HP:0001384	Abnormal hip joint morphology	6469	SHH	ORPHA:93926
HP:0001384	Abnormal hip joint morphology	6469	SHH	ORPHA:93924
HP:0001384	Abnormal hip joint morphology	6469	SHH	ORPHA:93925
HP:0001384	Abnormal hip joint morphology	6469	SHH	ORPHA:220386
HP:0001384	Abnormal hip joint morphology	7546	ZIC2	ORPHA:93926
HP:0001384	Abnormal hip joint morphology	7546	ZIC2	ORPHA:93924
HP:0001384	Abnormal hip joint morphology	7546	ZIC2	ORPHA:93925
HP:0001384	Abnormal hip joint morphology	7546	ZIC2	ORPHA:220386
HP:0001384	Abnormal hip joint morphology	6491	STIL	ORPHA:93926
HP:0001384	Abnormal hip joint morphology	6491	STIL	ORPHA:93924
HP:0001384	Abnormal hip joint morphology	6491	STIL	ORPHA:93925
HP:0001384	Abnormal hip joint morphology	6491	STIL	ORPHA:220386
HP:0001384	Abnormal hip joint morphology	2619	GAS1	ORPHA:93926
HP:0001384	Abnormal hip joint morphology	2619	GAS1	ORPHA:93924
HP:0001384	Abnormal hip joint morphology	2619	GAS1	ORPHA:93925
HP:0001384	Abnormal hip joint morphology	2619	GAS1	ORPHA:220386
HP:0001384	Abnormal hip joint morphology	84976	DISP1	ORPHA:93926
HP:0001384	Abnormal hip joint morphology	84976	DISP1	ORPHA:93924
HP:0001384	Abnormal hip joint morphology	84976	DISP1	ORPHA:93925
HP:0001384	Abnormal hip joint morphology	84976	DISP1	ORPHA:220386
HP:0001384	Abnormal hip joint morphology	2736	GLI2	ORPHA:93926
HP:0001384	Abnormal hip joint morphology	2736	GLI2	ORPHA:93924
HP:0001384	Abnormal hip joint morphology	2736	GLI2	ORPHA:93925
HP:0001384	Abnormal hip joint morphology	2736	GLI2	ORPHA:220386
HP:0001384	Abnormal hip joint morphology	8928	FOXH1	ORPHA:93926
HP:0001384	Abnormal hip joint morphology	8928	FOXH1	ORPHA:93924
HP:0001384	Abnormal hip joint morphology	8928	FOXH1	ORPHA:93925
HP:0001384	Abnormal hip joint morphology	8928	FOXH1	ORPHA:220386
HP:0001384	Abnormal hip joint morphology	6997	CRIPTO	ORPHA:93926
HP:0001384	Abnormal hip joint morphology	6997	CRIPTO	ORPHA:93924
HP:0001384	Abnormal hip joint morphology	6997	CRIPTO	ORPHA:93925
HP:0001384	Abnormal hip joint morphology	6997	CRIPTO	ORPHA:220386
HP:0001384	Abnormal hip joint morphology	5727	PTCH1	ORPHA:93926
HP:0001384	Abnormal hip joint morphology	5727	PTCH1	ORPHA:93924
HP:0001384	Abnormal hip joint morphology	5727	PTCH1	ORPHA:93925
HP:0001384	Abnormal hip joint morphology	5727	PTCH1	ORPHA:220386
HP:0001384	Abnormal hip joint morphology	50937	CDON	ORPHA:93926
HP:0001384	Abnormal hip joint morphology	50937	CDON	ORPHA:93924
HP:0001384	Abnormal hip joint morphology	50937	CDON	ORPHA:93925
HP:0001384	Abnormal hip joint morphology	50937	CDON	ORPHA:220386
HP:0001384	Abnormal hip joint morphology	2260	FGFR1	ORPHA:93924
HP:0001384	Abnormal hip joint morphology	2260	FGFR1	ORPHA:220386
HP:0001384	Abnormal hip joint morphology	23007	PLCH1	ORPHA:93925
HP:0001384	Abnormal hip joint morphology	10735	STAG2	ORPHA:93925
HP:0001384	Abnormal hip joint morphology	10735	STAG2	ORPHA:220386
HP:0001384	Abnormal hip joint morphology	7468	NSD2	OMIM:194190
HP:0001384	Abnormal hip joint morphology	10815	CPLX1	OMIM:194190
HP:0001384	Abnormal hip joint morphology	1487	CTBP1	OMIM:194190
HP:0001384	Abnormal hip joint morphology	53834	FGFRL1	OMIM:194190
HP:0001384	Abnormal hip joint morphology	3954	LETM1	OMIM:194190
HP:0001384	Abnormal hip joint morphology	9487	PIGL	ORPHA:3474
HP:0001384	Abnormal hip joint morphology	2697	GJA1	OMIM:164200
HP:0001384	Abnormal hip joint morphology	165	AEBP1	ORPHA:536532
HP:0001384	Abnormal hip joint morphology	165	AEBP1	OMIM:618000
HP:0001384	Abnormal hip joint morphology	85301	COL27A1	OMIM:615155
HP:0001384	Abnormal hip joint morphology	1857	DVL3	ORPHA:3107
HP:0001384	Abnormal hip joint morphology	7474	WNT5A	ORPHA:3107
HP:0001384	Abnormal hip joint morphology	2535	FZD2	ORPHA:3107
HP:0001384	Abnormal hip joint morphology	3098	HK1	OMIM:618547
HP:0001384	Abnormal hip joint morphology	81031	SLC2A10	ORPHA:3342
HP:0001384	Abnormal hip joint morphology	4952	OCRL	OMIM:309000
HP:0001384	Abnormal hip joint morphology	4952	OCRL	ORPHA:534
HP:0001384	Abnormal hip joint morphology	145258	GSC	OMIM:602471
HP:0001384	Abnormal hip joint morphology	6558	SLC12A2	OMIM:619083
HP:0001384	Abnormal hip joint morphology	78989	COLEC11	OMIM:265050
HP:0001384	Abnormal hip joint morphology	78989	COLEC11	ORPHA:293843
HP:0001384	Abnormal hip joint morphology	3251	HPRT1	OMIM:300322
HP:0001384	Abnormal hip joint morphology	23187	PHLDB1	OMIM:620639
HP:0001384	Abnormal hip joint morphology	7140	TNNT3	OMIM:618435
HP:0001384	Abnormal hip joint morphology	2316	FLNA	ORPHA:2484
HP:0001384	Abnormal hip joint morphology	2316	FLNA	OMIM:309350
HP:0001384	Abnormal hip joint morphology	2316	FLNA	OMIM:311300
HP:0001384	Abnormal hip joint morphology	5832	ALDH18A1	OMIM:219150
HP:0001384	Abnormal hip joint morphology	5832	ALDH18A1	ORPHA:90348
HP:0001384	Abnormal hip joint morphology	5832	ALDH18A1	OMIM:616603
HP:0001384	Abnormal hip joint morphology	3187	HNRNPH1	OMIM:620083
HP:0001384	Abnormal hip joint morphology	4920	ROR2	OMIM:268310
HP:0001384	Abnormal hip joint morphology	3835	KIF22	OMIM:603546
HP:0001384	Abnormal hip joint morphology	3835	KIF22	ORPHA:93360
HP:0001384	Abnormal hip joint morphology	7030	TFE3	OMIM:301066
HP:0001384	Abnormal hip joint morphology	51651	PTRH2	OMIM:616263
HP:0001384	Abnormal hip joint morphology	2006	ELN	ORPHA:90348
HP:0001384	Abnormal hip joint morphology	10516	FBLN5	ORPHA:90348
HP:0001384	Abnormal hip joint morphology	10516	FBLN5	ORPHA:90349
HP:0001384	Abnormal hip joint morphology	4052	LTBP1	ORPHA:90349
HP:0001384	Abnormal hip joint morphology	4052	LTBP1	OMIM:619451
HP:0001384	Abnormal hip joint morphology	30008	EFEMP2	ORPHA:90349
HP:0001384	Abnormal hip joint morphology	55681	SCYL2	ORPHA:1143
HP:0001384	Abnormal hip joint morphology	84570	COL25A1	ORPHA:1143
HP:0001384	Abnormal hip joint morphology	57222	ERGIC1	ORPHA:1143
HP:0001384	Abnormal hip joint morphology	7476	WNT7A	OMIM:276820
HP:0001384	Abnormal hip joint morphology	9939	RBM8A	ORPHA:3320
HP:0001384	Abnormal hip joint morphology	9939	RBM8A	OMIM:274000
HP:0001384	Abnormal hip joint morphology	9775	EIF4A3	OMIM:268305
HP:0001384	Abnormal hip joint morphology	81603	TRIM8	OMIM:619428
HP:0001384	Abnormal hip joint morphology	2737	GLI3	ORPHA:672
HP:0001384	Abnormal hip joint morphology	2737	GLI3	OMIM:146510
HP:0001384	Abnormal hip joint morphology	2737	GLI3	ORPHA:93322
HP:0001384	Abnormal hip joint morphology	22827	PUF60	ORPHA:508498
HP:0001384	Abnormal hip joint morphology	22827	PUF60	OMIM:615583
HP:0001384	Abnormal hip joint morphology	55906	ZC4H2	OMIM:301041
HP:0001384	Abnormal hip joint morphology	55906	ZC4H2	OMIM:314580
HP:0001384	Abnormal hip joint morphology	9759	HDAC4	OMIM:619797
HP:0001384	Abnormal hip joint morphology	56896	DPYSL5	OMIM:619435
HP:0001384	Abnormal hip joint morphology	579	NKX3-2	OMIM:613330
HP:0001384	Abnormal hip joint morphology	100151683	RNU4ATAC	OMIM:210710
HP:0001384	Abnormal hip joint morphology	100151683	RNU4ATAC	OMIM:226960
HP:0001384	Abnormal hip joint morphology	253738	EBF3	ORPHA:96148
HP:0001384	Abnormal hip joint morphology	90459	ERI1	OMIM:620663
HP:0001384	Abnormal hip joint morphology	90459	ERI1	OMIM:620662
HP:0001384	Abnormal hip joint morphology	79796	ALG9	OMIM:608776
HP:0001384	Abnormal hip joint morphology	1278	COL1A2	OMIM:617821
HP:0001384	Abnormal hip joint morphology	1278	COL1A2	ORPHA:1899
HP:0001384	Abnormal hip joint morphology	1836	SLC26A2	ORPHA:93307
HP:0001384	Abnormal hip joint morphology	55784	MCTP2	ORPHA:1596
HP:0001384	Abnormal hip joint morphology	8085	KMT2D	ORPHA:2322
HP:0001384	Abnormal hip joint morphology	7403	KDM6A	ORPHA:2322
HP:0001384	Abnormal hip joint morphology	7403	KDM6A	OMIM:300867
HP:0001384	Abnormal hip joint morphology	5831	PYCR1	OMIM:614438
HP:0001384	Abnormal hip joint morphology	5831	PYCR1	ORPHA:2078
HP:0001384	Abnormal hip joint morphology	51010	EXOSC3	OMIM:614678
HP:0001384	Abnormal hip joint morphology	6263	RYR3	OMIM:620310
HP:0001384	Abnormal hip joint morphology	2067	ERCC1	OMIM:610758
HP:0001384	Abnormal hip joint morphology	23499	MACF1	ORPHA:572013
HP:0001384	Abnormal hip joint morphology	387119	CEP85L	ORPHA:572013
HP:0001384	Abnormal hip joint morphology	64135	IFIH1	OMIM:182250
HP:0001384	Abnormal hip joint morphology	29925	GMPPB	ORPHA:370968
HP:0001384	Abnormal hip joint morphology	79147	FKRP	ORPHA:370968
HP:0001384	Abnormal hip joint morphology	29954	POMT2	ORPHA:370968
HP:0001384	Abnormal hip joint morphology	29954	POMT2	OMIM:613156
HP:0001384	Abnormal hip joint morphology	9215	LARGE1	ORPHA:370968
HP:0001384	Abnormal hip joint morphology	10585	POMT1	ORPHA:370968
HP:0001384	Abnormal hip joint morphology	4621	MYH3	OMIM:193700
HP:0001384	Abnormal hip joint morphology	2530	FUT8	OMIM:618005
HP:0001384	Abnormal hip joint morphology	64131	XYLT1	OMIM:615777
HP:0001384	Abnormal hip joint morphology	29920	PYCR2	ORPHA:481152
HP:0001384	Abnormal hip joint morphology	9820	CUL7	OMIM:273750
HP:0001384	Abnormal hip joint morphology	6678	SPARC	OMIM:616507
HP:0001384	Abnormal hip joint morphology	9719	ADAMTSL2	ORPHA:1901
HP:0001384	Abnormal hip joint morphology	9509	ADAMTS2	ORPHA:1901
HP:0001384	Abnormal hip joint morphology	5351	PLOD1	ORPHA:1900
HP:0001384	Abnormal hip joint morphology	64093	SMOC1	ORPHA:1106
HP:0001384	Abnormal hip joint morphology	64093	SMOC1	OMIM:206920
HP:0001384	Abnormal hip joint morphology	25778	DSTYK	ORPHA:101003
HP:0001384	Abnormal hip joint morphology	2743	GLRB	ORPHA:3197
HP:0001384	Abnormal hip joint morphology	2741	GLRA1	ORPHA:3197
HP:0001384	Abnormal hip joint morphology	2741	GLRA1	OMIM:149400
HP:0001384	Abnormal hip joint morphology	10243	GPHN	ORPHA:3197
HP:0001384	Abnormal hip joint morphology	10243	GPHN	OMIM:149400
HP:0001384	Abnormal hip joint morphology	84896	ATAD1	ORPHA:3197
HP:0001384	Abnormal hip joint morphology	9152	SLC6A5	ORPHA:3197
HP:0001384	Abnormal hip joint morphology	26175	LYSET	OMIM:619345
HP:0001384	Abnormal hip joint morphology	9451	EIF2AK3	OMIM:226980
HP:0001384	Abnormal hip joint morphology	545	ATR	OMIM:210600
HP:0001384	Abnormal hip joint morphology	64374	SIL1	ORPHA:559
HP:0001384	Abnormal hip joint morphology	55644	OSGEP	OMIM:617729
HP:0001384	Abnormal hip joint morphology	2313	FLI1	ORPHA:2308
HP:0001384	Abnormal hip joint morphology	23476	BRD4	ORPHA:199
HP:0001384	Abnormal hip joint morphology	9126	SMC3	ORPHA:199
HP:0001384	Abnormal hip joint morphology	8243	SMC1A	ORPHA:199
HP:0001384	Abnormal hip joint morphology	8243	SMC1A	ORPHA:220386
HP:0001384	Abnormal hip joint morphology	6878	TAF6	ORPHA:199
HP:0001384	Abnormal hip joint morphology	25836	NIPBL	ORPHA:199
HP:0001384	Abnormal hip joint morphology	55869	HDAC8	ORPHA:199
HP:0001384	Abnormal hip joint morphology	5885	RAD21	ORPHA:199
HP:0001384	Abnormal hip joint morphology	538	ATP7A	ORPHA:198
HP:0001384	Abnormal hip joint morphology	57003	CCDC47	OMIM:618268
HP:0001384	Abnormal hip joint morphology	10526	IPO8	OMIM:619472
HP:0001384	Abnormal hip joint morphology	1861	TOR1A	OMIM:618947
HP:0001384	Abnormal hip joint morphology	23443	SLC35A3	OMIM:615553
HP:0001384	Abnormal hip joint morphology	23443	SLC35A3	ORPHA:370943
HP:0001384	Abnormal hip joint morphology	6608	SMO	OMIM:241800
HP:0001384	Abnormal hip joint morphology	4796	TONSL	ORPHA:93357
HP:0001384	Abnormal hip joint morphology	207	AKT1	ORPHA:744
HP:0001384	Abnormal hip joint morphology	4000	LMNA	ORPHA:740
HP:0001384	Abnormal hip joint morphology	10269	ZMPSTE24	ORPHA:740
HP:0001384	Abnormal hip joint morphology	51360	MBTPS2	OMIM:308205
HP:0001384	Abnormal hip joint morphology	8239	USP9X	OMIM:300968
HP:0001384	Abnormal hip joint morphology	23233	EXOC6B	OMIM:618395
HP:0001384	Abnormal hip joint morphology	113246	C12orf57	OMIM:218340
HP:0001384	Abnormal hip joint morphology	126792	B3GALT6	OMIM:271640
HP:0001384	Abnormal hip joint morphology	126792	B3GALT6	OMIM:615349
HP:0001384	Abnormal hip joint morphology	284058	KANSL1	OMIM:610443
HP:0001384	Abnormal hip joint morphology	92344	GORAB	ORPHA:2078
HP:0001384	Abnormal hip joint morphology	10584	COLEC10	ORPHA:293843
HP:0001384	Abnormal hip joint morphology	5648	MASP1	ORPHA:293843
HP:0001384	Abnormal hip joint morphology	23299	BICD2	OMIM:618291
HP:0001384	Abnormal hip joint morphology	9469	CHST3	OMIM:245600
HP:0001384	Abnormal hip joint morphology	26229	B3GAT3	OMIM:245600
HP:0001384	Abnormal hip joint morphology	6913	TBX15	OMIM:260660
HP:0001384	Abnormal hip joint morphology	523	ATP6V1A	OMIM:617403
HP:0001384	Abnormal hip joint morphology	3207	HOXA11	OMIM:605432
HP:0001384	Abnormal hip joint morphology	5745	PTH1R	ORPHA:79106
HP:0001384	Abnormal hip joint morphology	79848	CSPP1	ORPHA:397715
HP:0001384	Abnormal hip joint morphology	9786	KIAA0586	ORPHA:397715
HP:0001384	Abnormal hip joint morphology	91147	TMEM67	ORPHA:140976
HP:0001384	Abnormal hip joint morphology	3373	HYAL1	ORPHA:67041
HP:0001384	Abnormal hip joint morphology	1311	COMP	ORPHA:93308
HP:0001384	Abnormal hip joint morphology	60561	RINT1	OMIM:618641
HP:0001384	Abnormal hip joint morphology	59341	TRPV4	ORPHA:93314
HP:0001384	Abnormal hip joint morphology	4088	SMAD3	ORPHA:284984
HP:0001384	Abnormal hip joint morphology	4088	SMAD3	OMIM:613795
HP:0001384	Abnormal hip joint morphology	2200	FBN1	OMIM:154700
HP:0001384	Abnormal hip joint morphology	5176	SERPINF1	OMIM:613982
HP:0001384	Abnormal hip joint morphology	10491	CRTAP	OMIM:610682
HP:0001384	Abnormal hip joint morphology	7048	TGFBR2	OMIM:610168
HP:0001384	Abnormal hip joint morphology	7042	TGFB2	OMIM:614816
HP:0001384	Abnormal hip joint morphology	54808	DYM	OMIM:223800
HP:0001384	Abnormal hip joint morphology	153241	CEP120	OMIM:616300
HP:0001384	Abnormal hip joint morphology	1108	CHD4	OMIM:617159
HP:0001384	Abnormal hip joint morphology	54187	NANS	OMIM:610442
HP:0001384	Abnormal hip joint morphology	124583	CANT1	OMIM:617719
HP:0001384	Abnormal hip joint morphology	124583	CANT1	OMIM:251450
HP:0001384	Abnormal hip joint morphology	57539	WDR35	OMIM:614091
HP:0001384	Abnormal hip joint morphology	3636	INPPL1	OMIM:258480
HP:0001384	Abnormal hip joint morphology	633	BGN	OMIM:300106
HP:0001384	Abnormal hip joint morphology	9321	TRIP11	OMIM:184260
HP:0001384	Abnormal hip joint morphology	83452	RAB33B	OMIM:615222
HP:0001384	Abnormal hip joint morphology	51098	IFT52	OMIM:617102
HP:0001384	Abnormal hip joint morphology	55790	CSGALNACT1	OMIM:618870
HP:0001384	Abnormal hip joint morphology	51025	PAM16	OMIM:613320
HP:0001384	Abnormal hip joint morphology	23169	SLC35D1	OMIM:269250
HP:0001384	Abnormal hip joint morphology	9382	COG1	ORPHA:263508
HP:0001384	Abnormal hip joint morphology	2879	GPX4	OMIM:250220
HP:0001384	Abnormal hip joint morphology	55325	UFSP2	OMIM:142669
HP:0001384	Abnormal hip joint morphology	9496	TBX4	ORPHA:261279
HP:0001384	Abnormal hip joint morphology	51715	RAB23	OMIM:201000
HP:0001384	Abnormal hip joint morphology	50485	SMARCAL1	ORPHA:1830
HP:0001384	Abnormal hip joint morphology	50485	SMARCAL1	OMIM:242900
HP:0001384	Abnormal hip joint morphology	9653	HS2ST1	OMIM:619194
HP:0001384	Abnormal hip joint morphology	274	BIN1	ORPHA:169186
HP:0001384	Abnormal hip joint morphology	10290	SPEG	ORPHA:169186
HP:0001384	Abnormal hip joint morphology	10290	SPEG	OMIM:615959
HP:0001384	Abnormal hip joint morphology	6261	RYR1	ORPHA:169186
HP:0001384	Abnormal hip joint morphology	7273	TTN	ORPHA:169186
HP:0001384	Abnormal hip joint morphology	57190	SELENON	ORPHA:97244
HP:0001384	Abnormal hip joint morphology	57190	SELENON	ORPHA:2020
HP:0001384	Abnormal hip joint morphology	4593	MUSK	OMIM:208150
HP:0001384	Abnormal hip joint morphology	29895	MYL11	OMIM:619110
HP:0001384	Abnormal hip joint morphology	6885	MAP3K7	OMIM:617137
HP:0001384	Abnormal hip joint morphology	9894	TELO2	ORPHA:488642
HP:0001384	Abnormal hip joint morphology	285175	UNC80	OMIM:616801
HP:0001384	Abnormal hip joint morphology	285175	UNC80	ORPHA:371364
HP:0001384	Abnormal hip joint morphology	259232	NALCN	ORPHA:371364
HP:0001384	Abnormal hip joint morphology	259232	NALCN	OMIM:616266
HP:0001384	Abnormal hip joint morphology	7138	TNNT1	OMIM:620386
HP:0001384	Abnormal hip joint morphology	7138	TNNT1	ORPHA:98902
HP:0001384	Abnormal hip joint morphology	7138	TNNT1	OMIM:605355
HP:0001384	Abnormal hip joint morphology	84992	PIGY	OMIM:616809
HP:0001384	Abnormal hip joint morphology	64324	NSD1	ORPHA:821
HP:0001384	Abnormal hip joint morphology	10297	APC2	ORPHA:821
HP:0001384	Abnormal hip joint morphology	11160	ERLIN2	ORPHA:209951
HP:0001384	Abnormal hip joint morphology	2617	GARS1	OMIM:619042
HP:0001384	Abnormal hip joint morphology	26137	ZBTB20	OMIM:259050
HP:0001384	Abnormal hip joint morphology	26137	ZBTB20	ORPHA:3042
HP:0001384	Abnormal hip joint morphology	8443	GNPAT	OMIM:222765
HP:0001384	Abnormal hip joint morphology	23522	KAT6B	ORPHA:85201
HP:0001384	Abnormal hip joint morphology	23522	KAT6B	OMIM:606170
HP:0001384	Abnormal hip joint morphology	163175	LGI4	OMIM:617468
HP:0001384	Abnormal hip joint morphology	2201	FBN2	OMIM:121050
HP:0001384	Abnormal hip joint morphology	60681	FKBP10	OMIM:259450
HP:0001384	Abnormal hip joint morphology	4773	NFATC2	OMIM:620232
HP:0001384	Abnormal hip joint morphology	1161	ERCC8	OMIM:216400
HP:0001384	Abnormal hip joint morphology	6329	SCN4A	OMIM:620351
HP:0001384	Abnormal hip joint morphology	6329	SCN4A	OMIM:620369
HP:0001384	Abnormal hip joint morphology	87178	PNPT1	ORPHA:319514
HP:0001384	Abnormal hip joint morphology	84068	SLC10A7	OMIM:618363
HP:0001384	Abnormal hip joint morphology	2157	F8	ORPHA:169805
HP:0001384	Abnormal hip joint morphology	7317	UBA1	ORPHA:1145
HP:0001384	Abnormal hip joint morphology	3339	HSPG2	OMIM:255800
HP:0001384	Abnormal hip joint morphology	3339	HSPG2	ORPHA:800
HP:0001384	Abnormal hip joint morphology	4313	MMP2	OMIM:259600
HP:0001384	Abnormal hip joint morphology	4633	MYL2	ORPHA:2020
HP:0001384	Abnormal hip joint morphology	3679	ITGA7	ORPHA:2020
HP:0001384	Abnormal hip joint morphology	9200	HACD1	ORPHA:2020
HP:0001384	Abnormal hip joint morphology	7170	TPM3	ORPHA:2020
HP:0001384	Abnormal hip joint morphology	51776	MAP3K20	ORPHA:2020
HP:0001384	Abnormal hip joint morphology	5297	PI4KA	OMIM:619621
HP:0001384	Abnormal hip joint morphology	54681	P4HTM	OMIM:618493
HP:0001384	Abnormal hip joint morphology	5277	PIGA	OMIM:300868
HP:0001384	Abnormal hip joint morphology	6023	RMRP	OMIM:607095
HP:0001384	Abnormal hip joint morphology	2783	GNB2	OMIM:619503
HP:0001384	Abnormal hip joint morphology	4632	MYL1	OMIM:618414
HP:0001384	Abnormal hip joint morphology	27145	FILIP1	OMIM:620775
HP:0001384	Abnormal hip joint morphology	2720	GLB1	OMIM:230650
HP:0001384	Abnormal hip joint morphology	3911	LAMA5	OMIM:620076
HP:0001384	Abnormal hip joint morphology	411	ARSB	OMIM:253200
HP:0001384	Abnormal hip joint morphology	57477	SHROOM4	ORPHA:85288
HP:0001384	Abnormal hip joint morphology	2192	FBLN1	ORPHA:404451
HP:0001384	Abnormal hip joint morphology	8218	CLTCL1	ORPHA:453510
HP:0001384	Abnormal hip joint morphology	2137	EXTL3	ORPHA:508533
HP:0001384	Abnormal hip joint morphology	10717	AP4B1	ORPHA:280763
HP:0001384	Abnormal hip joint morphology	10717	AP4B1	OMIM:614066
HP:0001384	Abnormal hip joint morphology	9179	AP4M1	ORPHA:280763
HP:0001384	Abnormal hip joint morphology	11154	AP4S1	ORPHA:280763
HP:0001384	Abnormal hip joint morphology	23431	AP4E1	ORPHA:280763
HP:0001384	Abnormal hip joint morphology	25885	POLR1A	OMIM:616462
HP:0001384	Abnormal hip joint morphology	2990	GUSB	OMIM:253220
HP:0001384	Abnormal hip joint morphology	84700	MYO18B	OMIM:616549
HP:0001384	Abnormal hip joint morphology	4897	NRCAM	OMIM:619833
HP:0001384	Abnormal hip joint morphology	8546	AP3B1	OMIM:608233
HP:0001384	Abnormal hip joint morphology	29928	TIMM22	OMIM:618851
HP:0001384	Abnormal hip joint morphology	6210	RPS15A	OMIM:618313
HP:0001384	Abnormal hip joint morphology	65082	VPS33A	OMIM:617303
HP:0001384	Abnormal hip joint morphology	1300	COL10A1	OMIM:156500
HP:0001384	Abnormal hip joint morphology	153642	ARSK	OMIM:619698
HP:0001384	Abnormal hip joint morphology	57728	WDR19	OMIM:614376
HP:0001384	Abnormal hip joint morphology	79659	DYNC2H1	OMIM:613091
HP:0001384	Abnormal hip joint morphology	55112	DYNC2I1	OMIM:615503
HP:0001384	Abnormal hip joint morphology	255758	DYNLT2B	OMIM:617405
HP:0001384	Abnormal hip joint morphology	132884	EVC2	OMIM:225500
HP:0001384	Abnormal hip joint morphology	2121	EVC	OMIM:225500
HP:0001384	Abnormal hip joint morphology	55835	CPAP	OMIM:613676
HP:0001384	Abnormal hip joint morphology	2263	FGFR2	ORPHA:313855
HP:0001384	Abnormal hip joint morphology	4921	DDR2	OMIM:271665
HP:0001384	Abnormal hip joint morphology	57187	THOC2	OMIM:300957
HP:0001384	Abnormal hip joint morphology	7355	SLC35A2	ORPHA:356961
HP:0001384	Abnormal hip joint morphology	55628	ZNF407	OMIM:619557
HP:0001384	Abnormal hip joint morphology	51608	GET4	OMIM:620200
HP:0001384	Abnormal hip joint morphology	28962	OSTM1	OMIM:259720
HP:0001384	Abnormal hip joint morphology	27125	AFF4	ORPHA:444077
HP:0001384	Abnormal hip joint morphology	84823	LMNB2	OMIM:619180
HP:0001384	Abnormal hip joint morphology	51112	TRAPPC12	ORPHA:500144
HP:0001384	Abnormal hip joint morphology	29998	BICRA	OMIM:619325
HP:0001384	Abnormal hip joint morphology	25871	NEPRO	OMIM:618853
HP:0001384	Abnormal hip joint morphology	10664	CTCF	OMIM:615502
HP:0001384	Abnormal hip joint morphology	79633	FAT4	OMIM:615546
HP:0001384	Abnormal hip joint morphology	2131	EXT1	ORPHA:321
HP:0001384	Abnormal hip joint morphology	2132	EXT2	ORPHA:321
HP:0001384	Abnormal hip joint morphology	26123	TCTN3	OMIM:614815
HP:0001384	Abnormal hip joint morphology	9851	KIAA0753	OMIM:619479
HP:0001384	Abnormal hip joint morphology	2261	FGFR3	ORPHA:15
HP:0001384	Abnormal hip joint morphology	5479	PPIB	OMIM:259440
HP:0001385	Hip dysplasia	9361	LONP1	OMIM:600373
HP:0001385	Hip dysplasia	9361	LONP1	ORPHA:1458
HP:0001385	Hip dysplasia	6261	RYR1	ORPHA:597
HP:0001385	Hip dysplasia	6261	RYR1	OMIM:117000
HP:0001385	Hip dysplasia	64840	PORCN	OMIM:305600
HP:0001385	Hip dysplasia	6628	SNRPB	OMIM:117650
HP:0001385	Hip dysplasia	9759	HDAC4	OMIM:619797
HP:0001385	Hip dysplasia	5351	PLOD1	OMIM:225400
HP:0001385	Hip dysplasia	134218	DNAJC21	OMIM:617052
HP:0001385	Hip dysplasia	1182	CLCN3	OMIM:619512
HP:0001385	Hip dysplasia	2138	EYA1	OMIM:113650
HP:0001385	Hip dysplasia	6495	SIX1	OMIM:113650
HP:0001385	Hip dysplasia	55699	IARS2	OMIM:616007
HP:0001385	Hip dysplasia	5048	PAFAH1B1	ORPHA:217385
HP:0001385	Hip dysplasia	7531	YWHAE	ORPHA:217385
HP:0001385	Hip dysplasia	6885	MAP3K7	OMIM:617137
HP:0001385	Hip dysplasia	9820	CUL7	ORPHA:2616
HP:0001385	Hip dysplasia	23363	OBSL1	ORPHA:2616
HP:0001385	Hip dysplasia	8195	MKKS	OMIM:236700
HP:0001385	Hip dysplasia	1131	CHRM3	ORPHA:2970
HP:0001385	Hip dysplasia	1131	CHRM3	OMIM:100100
HP:0001385	Hip dysplasia	10060	ABCC9	OMIM:619719
HP:0001385	Hip dysplasia	23545	ATP6V0A2	OMIM:219200
HP:0001385	Hip dysplasia	23545	ATP6V0A2	ORPHA:357074
HP:0001385	Hip dysplasia	23545	ATP6V0A2	ORPHA:2834
HP:0001385	Hip dysplasia	23545	ATP6V0A2	OMIM:278250
HP:0001385	Hip dysplasia	9401	RECQL4	OMIM:268400
HP:0001385	Hip dysplasia	89910	UBE3B	OMIM:244450
HP:0001385	Hip dysplasia	1723	DHODH	OMIM:263750
HP:0001385	Hip dysplasia	60482	SLC5A7	ORPHA:98914
HP:0001385	Hip dysplasia	4649	MYO9A	ORPHA:98914
HP:0001385	Hip dysplasia	1305	COL13A1	ORPHA:98914
HP:0001385	Hip dysplasia	1103	CHAT	ORPHA:98914
HP:0001385	Hip dysplasia	6576	SLC25A1	ORPHA:98914
HP:0001385	Hip dysplasia	6843	VAMP1	ORPHA:98914
HP:0001385	Hip dysplasia	375790	AGRN	ORPHA:98914
HP:0001385	Hip dysplasia	127833	SYT2	ORPHA:98914
HP:0001385	Hip dysplasia	6572	SLC18A3	ORPHA:98914
HP:0001385	Hip dysplasia	6616	SNAP25	ORPHA:98914
HP:0001385	Hip dysplasia	5832	ALDH18A1	OMIM:219150
HP:0001385	Hip dysplasia	2316	FLNA	OMIM:304120
HP:0001385	Hip dysplasia	2273	FHL1	OMIM:300280
HP:0001385	Hip dysplasia	7169	TPM2	OMIM:108120
HP:0001385	Hip dysplasia	7169	TPM2	ORPHA:2020
HP:0001385	Hip dysplasia	6904	TBCD	ORPHA:496641
HP:0001385	Hip dysplasia	7547	ZIC3	OMIM:306955
HP:0001385	Hip dysplasia	3835	KIF22	OMIM:603546
HP:0001385	Hip dysplasia	2239	GPC4	ORPHA:373
HP:0001385	Hip dysplasia	2719	GPC3	ORPHA:373
HP:0001385	Hip dysplasia	7476	WNT7A	OMIM:228930
HP:0001385	Hip dysplasia	1290	COL5A2	OMIM:130010
HP:0001385	Hip dysplasia	5528	PPP2R5D	ORPHA:457279
HP:0001385	Hip dysplasia	5528	PPP2R5D	OMIM:616355
HP:0001385	Hip dysplasia	8260	NAA10	OMIM:300855
HP:0001385	Hip dysplasia	50814	NSDHL	OMIM:308050
HP:0001385	Hip dysplasia	23522	KAT6B	OMIM:606170
HP:0001385	Hip dysplasia	5831	PYCR1	OMIM:612940
HP:0001385	Hip dysplasia	50628	GEMIN4	OMIM:617913
HP:0001385	Hip dysplasia	6913	TBX15	ORPHA:93333
HP:0001385	Hip dysplasia	9896	FIG4	OMIM:216340
HP:0001385	Hip dysplasia	1281	COL3A1	ORPHA:286
HP:0001385	Hip dysplasia	58	ACTA1	ORPHA:2020
HP:0001385	Hip dysplasia	4633	MYL2	ORPHA:2020
HP:0001385	Hip dysplasia	3679	ITGA7	ORPHA:2020
HP:0001385	Hip dysplasia	9200	HACD1	ORPHA:2020
HP:0001385	Hip dysplasia	7170	TPM3	ORPHA:2020
HP:0001385	Hip dysplasia	7170	TPM3	OMIM:255310
HP:0001385	Hip dysplasia	51776	MAP3K20	ORPHA:2020
HP:0001385	Hip dysplasia	51651	PTRH2	ORPHA:456312
HP:0001385	Hip dysplasia	9427	ECEL1	OMIM:615065
HP:0001385	Hip dysplasia	1291	COL6A1	OMIM:158810
HP:0001385	Hip dysplasia	1293	COL6A3	OMIM:620728
HP:0001385	Hip dysplasia	7067	THRA	OMIM:614450
HP:0001385	Hip dysplasia	4035	LRP1	OMIM:620690
HP:0001385	Hip dysplasia	10054	UBA2	OMIM:619959
HP:0001385	Hip dysplasia	60684	TRAPPC11	OMIM:615356
HP:0001385	Hip dysplasia	4897	NRCAM	OMIM:619833
HP:0001385	Hip dysplasia	55777	MBD5	ORPHA:228402
HP:0001385	Hip dysplasia	55777	MBD5	OMIM:156200
HP:0001385	Hip dysplasia	3190	HNRNPK	ORPHA:453504
HP:0001385	Hip dysplasia	3190	HNRNPK	OMIM:616580
HP:0001385	Hip dysplasia	3190	HNRNPK	ORPHA:352665
HP:0001385	Hip dysplasia	4784	NFIX	ORPHA:447980
HP:0001385	Hip dysplasia	4784	NFIX	OMIM:602535
HP:0001385	Hip dysplasia	9496	TBX4	ORPHA:238578
HP:0001385	Hip dysplasia	9496	TBX4	ORPHA:1509
HP:0001385	Hip dysplasia	80232	WDR26	ORPHA:513456
HP:0001385	Hip dysplasia	478	ATP1A3	OMIM:619606
HP:0001385	Hip dysplasia	2137	EXTL3	OMIM:617425
HP:0001385	Hip dysplasia	10847	SRCAP	ORPHA:2044
HP:0001385	Hip dysplasia	10847	SRCAP	OMIM:136140
HP:0001385	Hip dysplasia	55768	NGLY1	ORPHA:404454
HP:0001385	Hip dysplasia	79158	GNPTAB	OMIM:252500
HP:0001385	Hip dysplasia	6595	SMARCA2	OMIM:619293
HP:0001385	Hip dysplasia	1300	COL10A1	ORPHA:174
HP:0001385	Hip dysplasia	84992	PIGY	ORPHA:247262
HP:0001385	Hip dysplasia	84992	PIGY	OMIM:616809
HP:0001385	Hip dysplasia	84720	PIGO	ORPHA:247262
HP:0001385	Hip dysplasia	93210	PGAP3	ORPHA:247262
HP:0001385	Hip dysplasia	284098	PIGW	ORPHA:247262
HP:0001385	Hip dysplasia	27315	PGAP2	ORPHA:247262
HP:0001385	Hip dysplasia	55650	PIGV	ORPHA:247262
HP:0001385	Hip dysplasia	9487	PIGL	ORPHA:247262
HP:0001385	Hip dysplasia	3423	IDS	ORPHA:217085
HP:0001385	Hip dysplasia	3423	IDS	ORPHA:217093
HP:0001385	Hip dysplasia	5290	PIK3CA	ORPHA:140944
HP:0001385	Hip dysplasia	55325	UFSP2	OMIM:142669
HP:0001385	Hip dysplasia	55325	UFSP2	ORPHA:2114
HP:0001385	Hip dysplasia	1836	SLC26A2	OMIM:226900
HP:0001385	Hip dysplasia	1836	SLC26A2	ORPHA:93307
HP:0001385	Hip dysplasia	1836	SLC26A2	ORPHA:628
HP:0001385	Hip dysplasia	2720	GLB1	OMIM:253010
HP:0001385	Hip dysplasia	51199	NIN	OMIM:614851
HP:0001385	Hip dysplasia	51199	NIN	ORPHA:319675
HP:0001385	Hip dysplasia	55012	PPP2R3C	OMIM:618419
HP:0001385	Hip dysplasia	63894	VIPAS39	OMIM:613404
HP:0001385	Hip dysplasia	7468	NSD2	OMIM:194190
HP:0001385	Hip dysplasia	10815	CPLX1	OMIM:194190
HP:0001385	Hip dysplasia	1487	CTBP1	OMIM:194190
HP:0001385	Hip dysplasia	53834	FGFRL1	OMIM:194190
HP:0001385	Hip dysplasia	3954	LETM1	OMIM:194190
HP:0001385	Hip dysplasia	1280	COL2A1	ORPHA:1856
HP:0001385	Hip dysplasia	1280	COL2A1	ORPHA:93316
HP:0001385	Hip dysplasia	23299	BICD2	ORPHA:363454
HP:0001385	Hip dysplasia	23299	BICD2	OMIM:615290
HP:0001385	Hip dysplasia	5518	PPP2R1A	OMIM:616362
HP:0001385	Hip dysplasia	5518	PPP2R1A	ORPHA:457284
HP:0001385	Hip dysplasia	1857	DVL3	ORPHA:3107
HP:0001385	Hip dysplasia	7474	WNT5A	ORPHA:3107
HP:0001385	Hip dysplasia	1855	DVL1	ORPHA:3107
HP:0001385	Hip dysplasia	2535	FZD2	ORPHA:3107
HP:0001385	Hip dysplasia	8239	USP9X	ORPHA:480880
HP:0001385	Hip dysplasia	8239	USP9X	OMIM:300968
HP:0001385	Hip dysplasia	2122	MECOM	ORPHA:71289
HP:0001385	Hip dysplasia	3207	HOXA11	ORPHA:71289
HP:0001385	Hip dysplasia	5590	PRKCZ	ORPHA:1606
HP:0001385	Hip dysplasia	2563	GABRD	ORPHA:1606
HP:0001385	Hip dysplasia	23013	SPEN	ORPHA:1606
HP:0001385	Hip dysplasia	8510	MMP23B	ORPHA:1606
HP:0001385	Hip dysplasia	7798	LUZP1	ORPHA:1606
HP:0001385	Hip dysplasia	6497	SKI	ORPHA:1606
HP:0001385	Hip dysplasia	10630	PDPN	ORPHA:1606
HP:0001385	Hip dysplasia	3339	HSPG2	ORPHA:1606
HP:0001385	Hip dysplasia	3339	HSPG2	ORPHA:800
HP:0001385	Hip dysplasia	10277	UBE4B	ORPHA:1606
HP:0001385	Hip dysplasia	8514	KCNAB2	ORPHA:1606
HP:0001385	Hip dysplasia	473	RERE	ORPHA:1606
HP:0001385	Hip dysplasia	473	RERE	OMIM:616975
HP:0001385	Hip dysplasia	473	RERE	ORPHA:494344
HP:0001385	Hip dysplasia	63976	PRDM16	ORPHA:1606
HP:0001385	Hip dysplasia	54897	CASZ1	ORPHA:1606
HP:0001385	Hip dysplasia	81031	SLC2A10	ORPHA:3342
HP:0001385	Hip dysplasia	55027	HEATR3	OMIM:620072
HP:0001385	Hip dysplasia	10236	HNRNPR	OMIM:620073
HP:0001385	Hip dysplasia	55210	ATAD3A	ORPHA:496790
HP:0001385	Hip dysplasia	55210	ATAD3A	OMIM:617183
HP:0001385	Hip dysplasia	26137	ZBTB20	OMIM:259050
HP:0001385	Hip dysplasia	8314	BAP1	OMIM:619762
HP:0001385	Hip dysplasia	54928	BPNT2	OMIM:614078
HP:0001385	Hip dysplasia	4849	CNOT3	OMIM:618672
HP:0001385	Hip dysplasia	200424	TET3	OMIM:618798
HP:0001385	Hip dysplasia	10667	FARS2	ORPHA:466722
HP:0001385	Hip dysplasia	11128	POLR3A	ORPHA:3455
HP:0001385	Hip dysplasia	11107	PRDM5	ORPHA:90354
HP:0001385	Hip dysplasia	84627	ZNF469	ORPHA:90354
HP:0001385	Hip dysplasia	6638	SNRPN	ORPHA:98754
HP:0001385	Hip dysplasia	6638	SNRPN	ORPHA:177904
HP:0001385	Hip dysplasia	6638	SNRPN	ORPHA:177901
HP:0001385	Hip dysplasia	4692	NDN	ORPHA:98754
HP:0001385	Hip dysplasia	4692	NDN	ORPHA:177904
HP:0001385	Hip dysplasia	4692	NDN	ORPHA:177901
HP:0001385	Hip dysplasia	54551	MAGEL2	ORPHA:98754
HP:0001385	Hip dysplasia	54551	MAGEL2	OMIM:176270
HP:0001385	Hip dysplasia	54551	MAGEL2	ORPHA:177904
HP:0001385	Hip dysplasia	54551	MAGEL2	ORPHA:177901
HP:0001385	Hip dysplasia	54551	MAGEL2	ORPHA:398069
HP:0001385	Hip dysplasia	4948	OCA2	ORPHA:98754
HP:0001385	Hip dysplasia	4948	OCA2	ORPHA:177904
HP:0001385	Hip dysplasia	4948	OCA2	ORPHA:177901
HP:0001385	Hip dysplasia	90	ACVR1	ORPHA:337
HP:0001385	Hip dysplasia	7030	TFE3	OMIM:301066
HP:0001385	Hip dysplasia	9968	MED12	OMIM:300895
HP:0001385	Hip dysplasia	545	ATR	ORPHA:808
HP:0001385	Hip dysplasia	1062	CENPE	ORPHA:808
HP:0001385	Hip dysplasia	5116	PCNT	ORPHA:808
HP:0001385	Hip dysplasia	5932	RBBP8	ORPHA:808
HP:0001385	Hip dysplasia	79902	NUP85	ORPHA:808
HP:0001385	Hip dysplasia	84126	ATRIP	ORPHA:808
HP:0001385	Hip dysplasia	10293	TRAIP	ORPHA:808
HP:0001385	Hip dysplasia	1763	DNA2	ORPHA:808
HP:0001385	Hip dysplasia	22995	CEP152	ORPHA:808
HP:0001385	Hip dysplasia	10733	PLK4	ORPHA:808
HP:0001385	Hip dysplasia	1387	CREBBP	OMIM:618332
HP:0001385	Hip dysplasia	1387	CREBBP	ORPHA:592574
HP:0001385	Hip dysplasia	1387	CREBBP	ORPHA:353277
HP:0001385	Hip dysplasia	51053	GMNN	OMIM:616835
HP:0001385	Hip dysplasia	79628	SH3TC2	ORPHA:99949
HP:0001385	Hip dysplasia	1642	DDB1	OMIM:619426
HP:0001385	Hip dysplasia	10664	CTCF	OMIM:615502
HP:0001385	Hip dysplasia	5908	RAP1B	OMIM:620654
HP:0001385	Hip dysplasia	9230	RAB11B	OMIM:617807
HP:0001385	Hip dysplasia	78987	CRELD1	OMIM:620771
HP:0001385	Hip dysplasia	59341	TRPV4	OMIM:181405
HP:0001385	Hip dysplasia	57190	SELENON	ORPHA:324604
HP:0001385	Hip dysplasia	4625	MYH7	ORPHA:324604
HP:0001385	Hip dysplasia	7273	TTN	ORPHA:324604
HP:0001385	Hip dysplasia	8243	SMC1A	OMIM:301044
HP:0001385	Hip dysplasia	8243	SMC1A	ORPHA:199
HP:0001385	Hip dysplasia	56896	DPYSL5	OMIM:619435
HP:0001385	Hip dysplasia	253738	EBF3	ORPHA:96148
HP:0001385	Hip dysplasia	100033413	SNORD116-1	OMIM:176270
HP:0001385	Hip dysplasia	8924	HERC2	OMIM:176270
HP:0001385	Hip dysplasia	23742	NPAP1	OMIM:176270
HP:0001385	Hip dysplasia	338433	SNORD115-1	OMIM:176270
HP:0001385	Hip dysplasia	7681	MKRN3	OMIM:176270
HP:0001385	Hip dysplasia	145624	PWAR1	OMIM:176270
HP:0001385	Hip dysplasia	3653	IPW	OMIM:176270
HP:0001385	Hip dysplasia	791114	PWRN1	OMIM:176270
HP:0001385	Hip dysplasia	4148	MATN3	ORPHA:93311
HP:0001385	Hip dysplasia	411	ARSB	OMIM:253200
HP:0001385	Hip dysplasia	7372	UMPS	ORPHA:30
HP:0001385	Hip dysplasia	63895	PIEZO2	OMIM:617146
HP:0001385	Hip dysplasia	6492	SIM1	ORPHA:398079
HP:0001385	Hip dysplasia	8312	AXIN1	OMIM:620558
HP:0001385	Hip dysplasia	2033	EP300	ORPHA:353284
HP:0001385	Hip dysplasia	3097	HIVEP2	OMIM:616977
HP:0001385	Hip dysplasia	1311	COMP	ORPHA:93308
HP:0001385	Hip dysplasia	23729	SHPK	ORPHA:440713
HP:0001385	Hip dysplasia	153642	ARSK	OMIM:619698
HP:0001385	Hip dysplasia	10265	IRX5	OMIM:611174
HP:0001385	Hip dysplasia	8200	GDF5	ORPHA:63442
HP:0001385	Hip dysplasia	23476	BRD4	OMIM:620568
HP:0001385	Hip dysplasia	23476	BRD4	ORPHA:199
HP:0001385	Hip dysplasia	83987	CCDC8	OMIM:614205
HP:0001385	Hip dysplasia	9719	ADAMTSL2	ORPHA:1901
HP:0001385	Hip dysplasia	9509	ADAMTS2	ORPHA:1901
HP:0001385	Hip dysplasia	22827	PUF60	ORPHA:508488
HP:0001385	Hip dysplasia	26276	VPS33B	OMIM:208085
HP:0001385	Hip dysplasia	11342	RNF13	OMIM:618379
HP:0001385	Hip dysplasia	11342	RNF13	ORPHA:544503
HP:0001385	Hip dysplasia	1822	ATN1	OMIM:618494
HP:0001385	Hip dysplasia	26040	SETBP1	OMIM:616078
HP:0001385	Hip dysplasia	57511	COG6	OMIM:614576
HP:0001385	Hip dysplasia	57187	THOC2	ORPHA:457240
HP:0001385	Hip dysplasia	64374	SIL1	ORPHA:559
HP:0001385	Hip dysplasia	4000	LMNA	ORPHA:79474
HP:0001385	Hip dysplasia	9126	SMC3	ORPHA:199
HP:0001385	Hip dysplasia	6878	TAF6	ORPHA:199
HP:0001385	Hip dysplasia	25836	NIPBL	ORPHA:199
HP:0001385	Hip dysplasia	55869	HDAC8	ORPHA:199
HP:0001385	Hip dysplasia	5885	RAD21	ORPHA:199
HP:0001385	Hip dysplasia	5885	RAD21	ORPHA:502
HP:0001385	Hip dysplasia	50801	KCNK4	OMIM:618381
HP:0001385	Hip dysplasia	538	ATP7A	ORPHA:198
HP:0001385	Hip dysplasia	7874	USP7	ORPHA:500055
HP:0001385	Hip dysplasia	64841	GNPNAT1	OMIM:619598
HP:0001385	Hip dysplasia	57003	CCDC47	OMIM:618268
HP:0001385	Hip dysplasia	10526	IPO8	OMIM:619472
HP:0001385	Hip dysplasia	80036	TRPM3	OMIM:620224
HP:0001385	Hip dysplasia	2131	EXT1	ORPHA:502
HP:0001385	Hip dysplasia	7227	TRPS1	ORPHA:502
HP:0001385	Hip dysplasia	1298	COL9A2	OMIM:600204
HP:0001385	Hip dysplasia	6872	TAF1	OMIM:300966
HP:0001385	Hip dysplasia	285590	SH3PXD2B	OMIM:249420
HP:0001385	Hip dysplasia	29123	ANKRD11	ORPHA:261250
HP:0001385	Hip dysplasia	1277	COL1A1	OMIM:166200
HP:0001385	Hip dysplasia	1277	COL1A1	ORPHA:1899
HP:0001385	Hip dysplasia	2799	GNS	OMIM:252940
HP:0001385	Hip dysplasia	126792	B3GALT6	ORPHA:536467
HP:0001385	Hip dysplasia	126792	B3GALT6	OMIM:615349
HP:0001385	Hip dysplasia	55898	UNC45A	OMIM:619377
HP:0001385	Hip dysplasia	55023	PHIP	OMIM:617991
HP:0001385	Hip dysplasia	51780	KDM3B	OMIM:618846
HP:0001385	Hip dysplasia	2733	GLE1	OMIM:611890
HP:0001385	Hip dysplasia	203190	LGI3	OMIM:620007
HP:0001385	Hip dysplasia	284058	KANSL1	OMIM:610443
HP:0001385	Hip dysplasia	5557	PRIM1	OMIM:620005
HP:0001385	Hip dysplasia	64432	MRPS25	OMIM:619025
HP:0001385	Hip dysplasia	7543	ZFX	OMIM:301118
HP:0001385	Hip dysplasia	57728	WDR19	OMIM:614378
HP:0001385	Hip dysplasia	523	ATP6V1A	OMIM:617403
HP:0001385	Hip dysplasia	529	ATP6V1E1	OMIM:617402
HP:0001385	Hip dysplasia	55753	OGDHL	OMIM:619701
HP:0001385	Hip dysplasia	1278	COL1A2	ORPHA:1899
HP:0001385	Hip dysplasia	2737	GLI3	ORPHA:93322
HP:0001385	Hip dysplasia	8085	KMT2D	OMIM:147920
HP:0001385	Hip dysplasia	7403	KDM6A	OMIM:147920
HP:0001385	Hip dysplasia	4322	MMP13	ORPHA:2501
HP:0001385	Hip dysplasia	23443	SLC35A3	ORPHA:370943
HP:0001385	Hip dysplasia	1303	COL12A1	ORPHA:536516
HP:0001385	Hip dysplasia	9894	TELO2	ORPHA:488642
HP:0001385	Hip dysplasia	57477	SHROOM4	ORPHA:85288
HP:0001385	Hip dysplasia	2192	FBLN1	ORPHA:404451
HP:0001385	Hip dysplasia	8218	CLTCL1	ORPHA:453510
HP:0001386	Joint swelling	9663	LPIN2	OMIM:609628
HP:0001386	Joint swelling	6399	TRAPPC2	ORPHA:93284
HP:0001386	Joint swelling	90268	OTULIN	OMIM:617099
HP:0001386	Joint swelling	144811	LACC1	ORPHA:85414
HP:0001386	Joint swelling	4282	MIF	ORPHA:85414
HP:0001386	Joint swelling	3123	HLA-DRB1	ORPHA:85414
HP:0001386	Joint swelling	3123	HLA-DRB1	ORPHA:797
HP:0001386	Joint swelling	3569	IL6	ORPHA:85414
HP:0001386	Joint swelling	8838	CCN6	OMIM:208230
HP:0001386	Joint swelling	8838	CCN6	ORPHA:1159
HP:0001386	Joint swelling	540	ATP7B	ORPHA:905
HP:0001386	Joint swelling	3248	HPGD	ORPHA:1525
HP:0001386	Joint swelling	3248	HPGD	ORPHA:2796
HP:0001386	Joint swelling	7157	TP53	ORPHA:668
HP:0001386	Joint swelling	5925	RB1	ORPHA:668
HP:0001386	Joint swelling	11200	CHEK2	ORPHA:668
HP:0001386	Joint swelling	2243	FGA	ORPHA:98880
HP:0001386	Joint swelling	2244	FGB	ORPHA:98880
HP:0001386	Joint swelling	2266	FGG	ORPHA:98880
HP:0001386	Joint swelling	6775	STAT4	ORPHA:85408
HP:0001386	Joint swelling	3560	IL2RB	ORPHA:85408
HP:0001386	Joint swelling	79722	ANKRD55	ORPHA:85408
HP:0001386	Joint swelling	26191	PTPN22	ORPHA:85408
HP:0001386	Joint swelling	26191	PTPN22	OMIM:180300
HP:0001386	Joint swelling	919	CD247	ORPHA:85408
HP:0001386	Joint swelling	3559	IL2RA	ORPHA:85408
HP:0001386	Joint swelling	5771	PTPN2	ORPHA:85408
HP:0001386	Joint swelling	3106	HLA-B	ORPHA:29207
HP:0001386	Joint swelling	4210	MEFV	ORPHA:329967
HP:0001386	Joint swelling	7132	TNFRSF1A	ORPHA:329967
HP:0001386	Joint swelling	3557	IL1RN	OMIM:612852
HP:0001386	Joint swelling	4952	OCRL	ORPHA:534
HP:0001386	Joint swelling	427	ASAH1	ORPHA:333
HP:0001386	Joint swelling	427	ASAH1	OMIM:228000
HP:0001386	Joint swelling	54	ACP5	OMIM:607944
HP:0001386	Joint swelling	2157	F8	ORPHA:169805
HP:0001386	Joint swelling	2157	F8	ORPHA:169802
HP:0001386	Joint swelling	654	BMP6	ORPHA:465508
HP:0001386	Joint swelling	3077	HFE	ORPHA:465508
HP:0001386	Joint swelling	3586	IL10	OMIM:180300
HP:0001386	Joint swelling	6583	SLC22A4	OMIM:180300
HP:0001386	Joint swelling	4261	CIITA	OMIM:180300
HP:0001386	Joint swelling	51744	CD244	OMIM:180300
HP:0001386	Joint swelling	4795	NFKBIL1	OMIM:180300
HP:0001386	Joint swelling	64127	NOD2	ORPHA:90340
HP:0001386	Joint swelling	64127	NOD2	OMIM:186580
HP:0001386	Joint swelling	83550	GPR101	ORPHA:963
HP:0001386	Joint swelling	9049	AIP	ORPHA:963
HP:0001386	Joint swelling	6578	SLCO2A1	ORPHA:2796
HP:0001386	Joint swelling	3081	HGD	ORPHA:56
HP:0001386	Joint swelling	1277	COL1A1	ORPHA:287
HP:0001386	Joint swelling	1289	COL5A1	ORPHA:287
HP:0001386	Joint swelling	1290	COL5A2	ORPHA:287
HP:0001386	Joint swelling	6850	SYK	OMIM:619381
HP:0001386	Joint swelling	4921	DDR2	OMIM:618175
HP:0001386	Joint swelling	2783	GNB2	OMIM:619503
HP:0001386	Joint swelling	4982	TNFRSF11B	ORPHA:1416
HP:0001386	Joint swelling	56172	ANKH	ORPHA:1416
HP:0001386	Joint swelling	56244	BTNL2	ORPHA:797
HP:0005261	Joint hemorrhage	2165	F13B	ORPHA:331
HP:0005261	Joint hemorrhage	2162	F13A1	ORPHA:331
HP:0005261	Joint hemorrhage	2162	F13A1	OMIM:613225
HP:0005261	Joint hemorrhage	2157	F8	ORPHA:177926
HP:0005261	Joint hemorrhage	2157	F8	ORPHA:169805
HP:0005261	Joint hemorrhage	2157	F8	ORPHA:169802
HP:0005261	Joint hemorrhage	2157	F8	OMIM:306700
HP:0005261	Joint hemorrhage	2159	F10	OMIM:227600
HP:0005261	Joint hemorrhage	2159	F10	ORPHA:328
HP:0005261	Joint hemorrhage	5345	SERPINF2	OMIM:262850
HP:0005261	Joint hemorrhage	5345	SERPINF2	ORPHA:79
HP:0005261	Joint hemorrhage	7450	VWF	OMIM:193400
HP:0005261	Joint hemorrhage	7450	VWF	OMIM:277480
HP:0005261	Joint hemorrhage	2155	F7	OMIM:227500
HP:0005261	Joint hemorrhage	2155	F7	ORPHA:327
HP:0005261	Joint hemorrhage	2677	GGCX	OMIM:277450
HP:0005261	Joint hemorrhage	2147	F2	OMIM:613679
HP:0005261	Joint hemorrhage	2147	F2	ORPHA:325
HP:0005261	Joint hemorrhage	2160	F11	ORPHA:329
HP:0005261	Joint hemorrhage	2153	F5	ORPHA:326
HP:0005261	Joint hemorrhage	2158	F9	OMIM:306900
HP:0005261	Joint hemorrhage	5054	SERPINE1	ORPHA:465
HP:0005261	Joint hemorrhage	3998	LMAN1	ORPHA:35909
HP:0005261	Joint hemorrhage	90411	MCFD2	ORPHA:35909
HP:0005261	Joint hemorrhage	5328	PLAU	OMIM:601709
HP:0005261	Joint hemorrhage	7454	WAS	OMIM:313900
HP:0001392	Abnormality of the liver	8573	CASK	OMIM:300908
HP:0001392	Abnormality of the liver	2539	G6PD	OMIM:300908
HP:0001392	Abnormality of the liver	8942	KYNU	OMIM:236800
HP:0001392	Abnormality of the liver	28234	SLCO1B3	OMIM:237450
HP:0001392	Abnormality of the liver	28234	SLCO1B3	ORPHA:3111
HP:0001392	Abnormality of the liver	10599	SLCO1B1	OMIM:237450
HP:0001392	Abnormality of the liver	10599	SLCO1B1	ORPHA:3111
HP:0001392	Abnormality of the liver	2035	EPB41	ORPHA:288
HP:0001392	Abnormality of the liver	2035	EPB41	OMIM:611804
HP:0001392	Abnormality of the liver	2995	GYPC	ORPHA:288
HP:0001392	Abnormality of the liver	2313	FLI1	ORPHA:370348
HP:0001392	Abnormality of the liver	51594	NBAS	OMIM:616483
HP:0001392	Abnormality of the liver	11330	CTRC	ORPHA:103918
HP:0001392	Abnormality of the liver	11330	CTRC	ORPHA:676
HP:0001392	Abnormality of the liver	6690	SPINK1	ORPHA:103918
HP:0001392	Abnormality of the liver	6690	SPINK1	ORPHA:676
HP:0001392	Abnormality of the liver	5213	PFKM	OMIM:232800
HP:0001392	Abnormality of the liver	27429	HTRA2	OMIM:617248
HP:0001392	Abnormality of the liver	6006	RHCE	ORPHA:71275
HP:0001392	Abnormality of the liver	7167	TPI1	OMIM:615512
HP:0001392	Abnormality of the liver	763	CA5A	OMIM:615751
HP:0001392	Abnormality of the liver	4023	LPL	OMIM:238600
HP:0001392	Abnormality of the liver	5774	PTPN3	ORPHA:70567
HP:0001392	Abnormality of the liver	6098	ROS1	ORPHA:70567
HP:0001392	Abnormality of the liver	11093	ADAMTS13	OMIM:274150
HP:0001392	Abnormality of the liver	7849	PAX8	ORPHA:95720
HP:0001392	Abnormality of the liver	7849	PAX8	ORPHA:95712
HP:0001392	Abnormality of the liver	7253	TSHR	ORPHA:95720
HP:0001392	Abnormality of the liver	5172	SLC26A4	ORPHA:95720
HP:0001392	Abnormality of the liver	2821	GPI	OMIM:613470
HP:0001392	Abnormality of the liver	8260	NAA10	OMIM:300855
HP:0001392	Abnormality of the liver	1482	NKX2-5	ORPHA:95712
HP:0001392	Abnormality of the liver	4548	MTR	OMIM:250940
HP:0001392	Abnormality of the liver	9493	KIF23	OMIM:105600
HP:0001392	Abnormality of the liver	5644	PRSS1	ORPHA:676
HP:0001392	Abnormality of the liver	5645	PRSS2	ORPHA:676
HP:0001392	Abnormality of the liver	1357	CPA1	ORPHA:676
HP:0001392	Abnormality of the liver	6711	SPTBN1	OMIM:619475
HP:0001392	Abnormality of the liver	286410	ATP11C	OMIM:301015
HP:0001392	Abnormality of the liver	10483	SEC23B	OMIM:224100
HP:0001392	Abnormality of the liver	51124	IER3IP1	OMIM:614231
HP:0001392	Abnormality of the liver	3098	HK1	OMIM:235700
HP:0001392	Abnormality of the liver	2215	FCGR3B	ORPHA:464370
HP:0001392	Abnormality of the liver	5449	POU1F1	OMIM:613038
HP:0001392	Abnormality of the liver	157570	ESCO2	OMIM:268300
HP:0001392	Abnormality of the liver	6928	HNF1B	OMIM:137920
HP:0001392	Abnormality of the liver	145173	B3GLCT	OMIM:261540
HP:0001392	Abnormality of the liver	4261	CIITA	OMIM:209920
HP:0001392	Abnormality of the liver	6794	STK11	OMIM:175200
HP:0001392	Abnormality of the liver	84100	ARL6	OMIM:209900
HP:0001392	Abnormality of the liver	79140	CCDC28B	OMIM:209900
HP:0001392	Abnormality of the liver	582	BBS1	OMIM:209900
HP:0001392	Abnormality of the liver	7468	NSD2	OMIM:194190
HP:0001392	Abnormality of the liver	10815	CPLX1	OMIM:194190
HP:0001392	Abnormality of the liver	1487	CTBP1	OMIM:194190
HP:0001392	Abnormality of the liver	53834	FGFRL1	OMIM:194190
HP:0001392	Abnormality of the liver	3954	LETM1	OMIM:194190
HP:0001392	Abnormality of the liver	80270	HSD3B7	ORPHA:79301
HP:0001392	Abnormality of the liver	212	ALAS2	OMIM:300752
HP:0001392	Abnormality of the liver	7461	CLIP2	ORPHA:904
HP:0001392	Abnormality of the liver	84277	DNAJC30	ORPHA:904
HP:0001392	Abnormality of the liver	8468	FKBP6	ORPHA:904
HP:0001392	Abnormality of the liver	5982	RFC2	ORPHA:904
HP:0001392	Abnormality of the liver	2969	GTF2I	ORPHA:904
HP:0001392	Abnormality of the liver	3984	LIMK1	ORPHA:904
HP:0001392	Abnormality of the liver	9569	GTF2IRD1	ORPHA:904
HP:0001392	Abnormality of the liver	155382	VPS37D	ORPHA:904
HP:0001392	Abnormality of the liver	155368	METTL27	ORPHA:904
HP:0001392	Abnormality of the liver	114049	BUD23	ORPHA:904
HP:0001392	Abnormality of the liver	7458	EIF4H	ORPHA:904
HP:0001392	Abnormality of the liver	84163	GTF2IRD2	ORPHA:904
HP:0001392	Abnormality of the liver	26608	TBL2	ORPHA:904
HP:0001392	Abnormality of the liver	135886	TMEM270	ORPHA:904
HP:0001392	Abnormality of the liver	9031	BAZ1B	ORPHA:904
HP:0001392	Abnormality of the liver	6340	SCNN1G	ORPHA:171876
HP:0001392	Abnormality of the liver	6337	SCNN1A	ORPHA:171876
HP:0001392	Abnormality of the liver	6338	SCNN1B	ORPHA:171876
HP:0001392	Abnormality of the liver	1760	DMPK	OMIM:160900
HP:0001392	Abnormality of the liver	8242	KDM5C	OMIM:300534
HP:0001392	Abnormality of the liver	326	AIRE	OMIM:240300
HP:0001392	Abnormality of the liver	81857	MED25	ORPHA:464738
HP:0001392	Abnormality of the liver	54148	MRPL39	OMIM:620646
HP:0001392	Abnormality of the liver	1312	COMT	ORPHA:567
HP:0001392	Abnormality of the liver	221037	JMJD1C	ORPHA:567
HP:0001392	Abnormality of the liver	2812	GP1BB	ORPHA:567
HP:0001392	Abnormality of the liver	6239	RREB1	ORPHA:567
HP:0001392	Abnormality of the liver	6899	TBX1	ORPHA:567
HP:0001392	Abnormality of the liver	6899	TBX1	OMIM:188400
HP:0001392	Abnormality of the liver	7290	HIRA	ORPHA:567
HP:0001392	Abnormality of the liver	9632	SEC24C	ORPHA:567
HP:0001392	Abnormality of the liver	7353	UFD1	ORPHA:567
HP:0001392	Abnormality of the liver	421	ARVCF	ORPHA:567
HP:0001392	Abnormality of the liver	83550	GPR101	ORPHA:963
HP:0001392	Abnormality of the liver	9049	AIP	ORPHA:963
HP:0001392	Abnormality of the liver	7386	UQCRFS1	OMIM:618775
HP:0001392	Abnormality of the liver	64241	ABCG8	OMIM:611465
HP:0001392	Abnormality of the liver	3708	ITPR1	OMIM:206700
HP:0001392	Abnormality of the liver	4204	MECP2	ORPHA:778
HP:0001392	Abnormality of the liver	9851	KIAA0753	ORPHA:474
HP:0001392	Abnormality of the liver	55112	DYNC2I1	ORPHA:474
HP:0001392	Abnormality of the liver	26160	IFT172	ORPHA:474
HP:0001392	Abnormality of the liver	153241	CEP120	ORPHA:474
HP:0001392	Abnormality of the liver	57560	IFT80	ORPHA:474
HP:0001392	Abnormality of the liver	51626	DYNC2LI1	ORPHA:474
HP:0001392	Abnormality of the liver	79659	DYNC2H1	ORPHA:474
HP:0001392	Abnormality of the liver	9742	IFT140	ORPHA:474
HP:0001392	Abnormality of the liver	57728	WDR19	ORPHA:474
HP:0001392	Abnormality of the liver	89891	DYNC2I2	ORPHA:474
HP:0001392	Abnormality of the liver	79809	TTC21B	ORPHA:474
HP:0001392	Abnormality of the liver	291	SLC25A4	ORPHA:254892
HP:0001392	Abnormality of the liver	5428	POLG	ORPHA:254892
HP:0001392	Abnormality of the liver	56652	TWNK	ORPHA:254892
HP:0001392	Abnormality of the liver	11232	POLG2	ORPHA:254892
HP:0001392	Abnormality of the liver	11232	POLG2	OMIM:610131
HP:0001392	Abnormality of the liver	50484	RRM2B	ORPHA:254892
HP:0001392	Abnormality of the liver	1244	ABCC2	ORPHA:234
HP:0001392	Abnormality of the liver	55532	SLC30A10	ORPHA:309854
HP:0001392	Abnormality of the liver	5590	PRKCZ	ORPHA:1606
HP:0001392	Abnormality of the liver	2563	GABRD	ORPHA:1606
HP:0001392	Abnormality of the liver	23013	SPEN	ORPHA:1606
HP:0001392	Abnormality of the liver	8510	MMP23B	ORPHA:1606
HP:0001392	Abnormality of the liver	7798	LUZP1	ORPHA:1606
HP:0001392	Abnormality of the liver	6497	SKI	ORPHA:1606
HP:0001392	Abnormality of the liver	10630	PDPN	ORPHA:1606
HP:0001392	Abnormality of the liver	3339	HSPG2	ORPHA:1606
HP:0001392	Abnormality of the liver	10277	UBE4B	ORPHA:1606
HP:0001392	Abnormality of the liver	8514	KCNAB2	ORPHA:1606
HP:0001392	Abnormality of the liver	473	RERE	ORPHA:1606
HP:0001392	Abnormality of the liver	63976	PRDM16	ORPHA:1606
HP:0001392	Abnormality of the liver	54897	CASZ1	ORPHA:1606
HP:0001392	Abnormality of the liver	23600	AMACR	OMIM:614307
HP:0001392	Abnormality of the liver	4609	MYC	ORPHA:543
HP:0001392	Abnormality of the liver	6804	STX1A	ORPHA:586
HP:0001392	Abnormality of the liver	2947	GSTM3	ORPHA:586
HP:0001392	Abnormality of the liver	7040	TGFB1	ORPHA:586
HP:0001392	Abnormality of the liver	2729	GCLC	ORPHA:586
HP:0001392	Abnormality of the liver	1084	CEACAM3	ORPHA:586
HP:0001392	Abnormality of the liver	6556	SLC11A1	ORPHA:586
HP:0001392	Abnormality of the liver	51164	DCTN4	ORPHA:586
HP:0001392	Abnormality of the liver	3783	KCNN4	ORPHA:586
HP:0001392	Abnormality of the liver	4282	MIF	ORPHA:586
HP:0001392	Abnormality of the liver	1909	EDNRA	ORPHA:586
HP:0001392	Abnormality of the liver	6550	SLC9A3	ORPHA:586
HP:0001392	Abnormality of the liver	3162	HMOX1	ORPHA:586
HP:0001392	Abnormality of the liver	115019	SLC26A9	ORPHA:586
HP:0001392	Abnormality of the liver	3077	HFE	ORPHA:586
HP:0001392	Abnormality of the liver	11254	SLC6A14	ORPHA:586
HP:0001392	Abnormality of the liver	5265	SERPINA1	ORPHA:586
HP:0001392	Abnormality of the liver	1080	CFTR	ORPHA:586
HP:0001392	Abnormality of the liver	22802	CLCA4	ORPHA:586
HP:0001392	Abnormality of the liver	4680	CEACAM6	ORPHA:586
HP:0001392	Abnormality of the liver	3028	HSD17B10	ORPHA:391457
HP:0001392	Abnormality of the liver	3043	HBB	ORPHA:231222
HP:0001392	Abnormality of the liver	4552	MTRR	ORPHA:2169
HP:0001392	Abnormality of the liver	590	BCHE	ORPHA:132
HP:0001392	Abnormality of the liver	55670	PEX26	ORPHA:44
HP:0001392	Abnormality of the liver	5824	PEX19	ORPHA:44
HP:0001392	Abnormality of the liver	5828	PEX2	ORPHA:44
HP:0001392	Abnormality of the liver	8504	PEX3	ORPHA:44
HP:0001392	Abnormality of the liver	9409	PEX16	ORPHA:44
HP:0001392	Abnormality of the liver	5190	PEX6	ORPHA:44
HP:0001392	Abnormality of the liver	8799	PEX11B	ORPHA:44
HP:0001392	Abnormality of the liver	5830	PEX5	ORPHA:44
HP:0001392	Abnormality of the liver	5189	PEX1	ORPHA:44
HP:0001392	Abnormality of the liver	5193	PEX12	ORPHA:44
HP:0001392	Abnormality of the liver	5194	PEX13	ORPHA:44
HP:0001392	Abnormality of the liver	5195	PEX14	ORPHA:44
HP:0001392	Abnormality of the liver	5192	PEX10	ORPHA:44
HP:0001392	Abnormality of the liver	7018	TF	OMIM:209300
HP:0001392	Abnormality of the liver	6389	SDHA	ORPHA:44890
HP:0001392	Abnormality of the liver	6390	SDHB	ORPHA:44890
HP:0001392	Abnormality of the liver	6391	SDHC	ORPHA:44890
HP:0001392	Abnormality of the liver	5156	PDGFRA	ORPHA:44890
HP:0001392	Abnormality of the liver	3815	KIT	ORPHA:44890
HP:0001392	Abnormality of the liver	5155	PDGFB	ORPHA:1980
HP:0001392	Abnormality of the liver	9213	XPR1	ORPHA:1980
HP:0001392	Abnormality of the liver	5159	PDGFRB	ORPHA:1980
HP:0001392	Abnormality of the liver	57462	MYORG	ORPHA:1980
HP:0001392	Abnormality of the liver	6575	SLC20A2	ORPHA:1980
HP:0001392	Abnormality of the liver	58494	JAM2	ORPHA:1980
HP:0001392	Abnormality of the liver	3431	SP110	OMIM:235550
HP:0001392	Abnormality of the liver	64116	SLC39A8	ORPHA:468699
HP:0001392	Abnormality of the liver	29929	ALG6	ORPHA:79320
HP:0001392	Abnormality of the liver	672	BRCA1	ORPHA:84
HP:0001392	Abnormality of the liver	10459	MAD2L2	ORPHA:84
HP:0001392	Abnormality of the liver	7516	XRCC2	ORPHA:84
HP:0001392	Abnormality of the liver	29089	UBE2T	ORPHA:84
HP:0001392	Abnormality of the liver	675	BRCA2	ORPHA:84
HP:0001392	Abnormality of the liver	55120	FANCL	ORPHA:84
HP:0001392	Abnormality of the liver	2177	FANCD2	ORPHA:84
HP:0001392	Abnormality of the liver	2175	FANCA	ORPHA:84
HP:0001392	Abnormality of the liver	2187	FANCB	ORPHA:84
HP:0001392	Abnormality of the liver	2176	FANCC	ORPHA:84
HP:0001392	Abnormality of the liver	2178	FANCE	ORPHA:84
HP:0001392	Abnormality of the liver	2188	FANCF	ORPHA:84
HP:0001392	Abnormality of the liver	2189	FANCG	ORPHA:84
HP:0001392	Abnormality of the liver	5888	RAD51	ORPHA:84
HP:0001392	Abnormality of the liver	5889	RAD51C	ORPHA:84
HP:0001392	Abnormality of the liver	55159	RFWD3	ORPHA:84
HP:0001392	Abnormality of the liver	83990	BRIP1	ORPHA:84
HP:0001392	Abnormality of the liver	57697	FANCM	ORPHA:84
HP:0001392	Abnormality of the liver	79728	PALB2	ORPHA:84
HP:0001392	Abnormality of the liver	84464	SLX4	ORPHA:84
HP:0001392	Abnormality of the liver	2072	ERCC4	ORPHA:84
HP:0001392	Abnormality of the liver	55215	FANCI	ORPHA:84
HP:0001392	Abnormality of the liver	64127	NOD2	ORPHA:90340
HP:0001392	Abnormality of the liver	9451	EIF2AK3	ORPHA:1667
HP:0001392	Abnormality of the liver	191	AHCY	ORPHA:88618
HP:0001392	Abnormality of the liver	4556	MT-TE	ORPHA:254864
HP:0001392	Abnormality of the liver	55687	TRMU	ORPHA:254864
HP:0001392	Abnormality of the liver	9652	SKIC3	ORPHA:84064
HP:0001392	Abnormality of the liver	6499	SKIC2	ORPHA:84064
HP:0001392	Abnormality of the liver	91147	TMEM67	ORPHA:140976
HP:0001392	Abnormality of the liver	23495	TNFRSF13B	ORPHA:1572
HP:0001392	Abnormality of the liver	4790	NFKB1	ORPHA:1572
HP:0001392	Abnormality of the liver	4791	NFKB2	ORPHA:1572
HP:0001392	Abnormality of the liver	115650	TNFRSF13C	ORPHA:1572
HP:0001392	Abnormality of the liver	1380	CR2	ORPHA:1572
HP:0001392	Abnormality of the liver	8742	TNFSF12	ORPHA:1572
HP:0001392	Abnormality of the liver	930	CD19	ORPHA:1572
HP:0001392	Abnormality of the liver	29851	ICOS	ORPHA:1572
HP:0001392	Abnormality of the liver	931	MS4A1	ORPHA:1572
HP:0001392	Abnormality of the liver	975	CD81	ORPHA:1572
HP:0001392	Abnormality of the liver	359948	IRF2BP2	ORPHA:1572
HP:0001392	Abnormality of the liver	5498	PPOX	ORPHA:79473
HP:0001392	Abnormality of the liver	54658	UGT1A1	ORPHA:79234
HP:0001392	Abnormality of the liver	94	ACVRL1	OMIM:600376
HP:0001392	Abnormality of the liver	94	ACVRL1	ORPHA:774
HP:0001392	Abnormality of the liver	229	ALDOB	OMIM:229600
HP:0001392	Abnormality of the liver	2632	GBE1	OMIM:232500
HP:0001392	Abnormality of the liver	3875	KRT18	OMIM:215600
HP:0001392	Abnormality of the liver	1736	DKC1	OMIM:305000
HP:0001392	Abnormality of the liver	1736	DKC1	ORPHA:1775
HP:0001392	Abnormality of the liver	84320	ACBD6	OMIM:620785
HP:0001392	Abnormality of the liver	148738	HJV	OMIM:602390
HP:0001392	Abnormality of the liver	959	CD40LG	OMIM:308230
HP:0001392	Abnormality of the liver	6888	TALDO1	ORPHA:101028
HP:0001392	Abnormality of the liver	6888	TALDO1	OMIM:606003
HP:0001392	Abnormality of the liver	26580	BSCL2	ORPHA:363400
HP:0001392	Abnormality of the liver	26580	BSCL2	OMIM:269700
HP:0001392	Abnormality of the liver	26580	BSCL2	ORPHA:528
HP:0001392	Abnormality of the liver	727897	MUC5B	OMIM:178500
HP:0001392	Abnormality of the liver	6440	SFTPC	OMIM:178500
HP:0001392	Abnormality of the liver	729238	SFTPA2	OMIM:178500
HP:0001392	Abnormality of the liver	7015	TERT	OMIM:178500
HP:0001392	Abnormality of the liver	7015	TERT	OMIM:127550
HP:0001392	Abnormality of the liver	7015	TERT	OMIM:614742
HP:0001392	Abnormality of the liver	7015	TERT	ORPHA:1775
HP:0001392	Abnormality of the liver	55651	NHP2	OMIM:613987
HP:0001392	Abnormality of the liver	55651	NHP2	ORPHA:1775
HP:0001392	Abnormality of the liver	26277	TINF2	OMIM:127550
HP:0001392	Abnormality of the liver	26277	TINF2	ORPHA:1775
HP:0001392	Abnormality of the liver	7012	TERC	OMIM:127550
HP:0001392	Abnormality of the liver	7012	TERC	OMIM:614743
HP:0001392	Abnormality of the liver	7012	TERC	ORPHA:1775
HP:0001392	Abnormality of the liver	5698	PSMB9	OMIM:620796
HP:0001392	Abnormality of the liver	30061	SLC40A1	OMIM:606069
HP:0001392	Abnormality of the liver	1890	TYMP	ORPHA:298
HP:0001392	Abnormality of the liver	3980	LIG3	ORPHA:298
HP:0001392	Abnormality of the liver	25839	COG4	ORPHA:263501
HP:0001392	Abnormality of the liver	25839	COG4	OMIM:613489
HP:0001392	Abnormality of the liver	2022	ENG	OMIM:187300
HP:0001392	Abnormality of the liver	2022	ENG	ORPHA:774
HP:0001392	Abnormality of the liver	2212	FCGR2A	OMIM:219700
HP:0001392	Abnormality of the liver	51218	GLRX5	OMIM:616860
HP:0001392	Abnormality of the liver	348	APOE	OMIM:269600
HP:0001392	Abnormality of the liver	3988	LIPA	OMIM:278000
HP:0001392	Abnormality of the liver	3988	LIPA	ORPHA:75234
HP:0001392	Abnormality of the liver	5468	PPARG	ORPHA:79083
HP:0001392	Abnormality of the liver	5468	PPARG	OMIM:604367
HP:0001392	Abnormality of the liver	5468	PPARG	ORPHA:528
HP:0001392	Abnormality of the liver	10555	AGPAT2	OMIM:608594
HP:0001392	Abnormality of the liver	10555	AGPAT2	ORPHA:528
HP:0001392	Abnormality of the liver	4547	MTTP	ORPHA:14
HP:0001392	Abnormality of the liver	5277	PIGA	OMIM:300868
HP:0001392	Abnormality of the liver	5277	PIGA	OMIM:301072
HP:0001392	Abnormality of the liver	9971	NR1H4	OMIM:617049
HP:0001392	Abnormality of the liver	9056	SLC7A7	ORPHA:470
HP:0001392	Abnormality of the liver	2592	GALT	OMIM:230400
HP:0001392	Abnormality of the liver	7036	TFR2	OMIM:604250
HP:0001392	Abnormality of the liver	1356	CP	ORPHA:48818
HP:0001392	Abnormality of the liver	50615	IL21R	OMIM:615207
HP:0001392	Abnormality of the liver	57570	TRMT5	OMIM:616539
HP:0001392	Abnormality of the liver	3516	RBPJ	ORPHA:974
HP:0001392	Abnormality of the liver	4851	NOTCH1	ORPHA:974
HP:0001392	Abnormality of the liver	57514	ARHGAP31	ORPHA:974
HP:0001392	Abnormality of the liver	57572	DOCK6	ORPHA:974
HP:0001392	Abnormality of the liver	285203	EOGT	ORPHA:974
HP:0001392	Abnormality of the liver	54567	DLL4	ORPHA:974
HP:0001392	Abnormality of the liver	2658	GDF2	ORPHA:774
HP:0001392	Abnormality of the liver	4351	MPI	OMIM:602579
HP:0001392	Abnormality of the liver	811	CALR	ORPHA:131
HP:0001392	Abnormality of the liver	8565	YARS1	OMIM:619418
HP:0001392	Abnormality of the liver	57817	HAMP	OMIM:613313
HP:0001392	Abnormality of the liver	445	ASS1	OMIM:215700
HP:0001392	Abnormality of the liver	84317	CCDC115	OMIM:616828
HP:0001392	Abnormality of the liver	83737	ITCH	ORPHA:228426
HP:0001392	Abnormality of the liver	284119	CAVIN1	ORPHA:528
HP:0001392	Abnormality of the liver	2353	FOS	ORPHA:528
HP:0001392	Abnormality of the liver	857	CAV1	ORPHA:528
HP:0001392	Abnormality of the liver	112752	IFT43	OMIM:614099
HP:0001392	Abnormality of the liver	80169	CTC1	ORPHA:1775
HP:0001392	Abnormality of the liver	79650	USB1	ORPHA:1775
HP:0001392	Abnormality of the liver	55135	WRAP53	ORPHA:1775
HP:0001392	Abnormality of the liver	51750	RTEL1	ORPHA:1775
HP:0001392	Abnormality of the liver	4869	NPM1	ORPHA:1775
HP:0001392	Abnormality of the liver	55505	NOP10	ORPHA:1775
HP:0001392	Abnormality of the liver	5073	PARN	ORPHA:1775
HP:0001392	Abnormality of the liver	7298	TYMS	ORPHA:1775
HP:0001392	Abnormality of the liver	2235	FECH	ORPHA:79278
HP:0001392	Abnormality of the liver	2629	GBA1	ORPHA:77259
HP:0001392	Abnormality of the liver	950	SCARB2	ORPHA:77259
HP:0001392	Abnormality of the liver	4750	NEK1	OMIM:263520
HP:0001392	Abnormality of the liver	427	ASAH1	ORPHA:333
HP:0001392	Abnormality of the liver	1777	DNASE2	OMIM:619858
HP:0001392	Abnormality of the liver	5373	PMM2	OMIM:212065
HP:0001392	Abnormality of the liver	5373	PMM2	ORPHA:79318
HP:0001392	Abnormality of the liver	92482	BBIP1	ORPHA:110
HP:0001392	Abnormality of the liver	80184	CEP290	ORPHA:110
HP:0001392	Abnormality of the liver	11020	IFT27	ORPHA:110
HP:0001392	Abnormality of the liver	49855	SCAPER	ORPHA:110
HP:0001392	Abnormality of the liver	4867	NPHP1	ORPHA:110
HP:0001392	Abnormality of the liver	51057	WDPCP	ORPHA:110
HP:0001392	Abnormality of the liver	132320	SCLT1	ORPHA:110
HP:0001392	Abnormality of the liver	27241	BBS9	ORPHA:110
HP:0001392	Abnormality of the liver	84984	CEP19	ORPHA:110
HP:0001392	Abnormality of the liver	22954	TRIM32	ORPHA:110
HP:0001392	Abnormality of the liver	79738	BBS10	ORPHA:110
HP:0001392	Abnormality of the liver	123016	TTC8	ORPHA:110
HP:0001392	Abnormality of the liver	583	BBS2	ORPHA:110
HP:0001392	Abnormality of the liver	585	BBS4	ORPHA:110
HP:0001392	Abnormality of the liver	8195	MKKS	ORPHA:110
HP:0001392	Abnormality of the liver	54585	LZTFL1	ORPHA:110
HP:0001392	Abnormality of the liver	55212	BBS7	ORPHA:110
HP:0001392	Abnormality of the liver	166379	BBS12	ORPHA:110
HP:0001392	Abnormality of the liver	10806	SDCCAG8	ORPHA:110
HP:0001392	Abnormality of the liver	157657	CFAP418	ORPHA:110
HP:0001392	Abnormality of the liver	129880	BBS5	ORPHA:110
HP:0001392	Abnormality of the liver	80173	IFT74	ORPHA:110
HP:0001392	Abnormality of the liver	55768	NGLY1	OMIM:615273
HP:0001392	Abnormality of the liver	79770	TXNDC15	OMIM:619879
HP:0001392	Abnormality of the liver	5346	PLIN1	ORPHA:280356
HP:0001392	Abnormality of the liver	100147744	RNU7-1	OMIM:619487
HP:0001392	Abnormality of the liver	79991	STN1	OMIM:617341
HP:0001392	Abnormality of the liver	8481	OFD1	OMIM:311200
HP:0001392	Abnormality of the liver	9371	KIF3B	OMIM:618955
HP:0001392	Abnormality of the liver	51651	PTRH2	OMIM:616263
HP:0001392	Abnormality of the liver	2819	GPD1	OMIM:614480
HP:0001392	Abnormality of the liver	178	AGL	OMIM:232400
HP:0001392	Abnormality of the liver	5557	PRIM1	OMIM:620005
HP:0001392	Abnormality of the liver	147007	TMEM199	OMIM:616829
HP:0001392	Abnormality of the liver	57410	SCYL1	ORPHA:466794
HP:0001392	Abnormality of the liver	57410	SCYL1	OMIM:616719
HP:0001392	Abnormality of the liver	8813	DPM1	ORPHA:79322
HP:0001392	Abnormality of the liver	538	ATP7A	ORPHA:198
HP:0001392	Abnormality of the liver	5122	PCSK1	ORPHA:71528
HP:0001392	Abnormality of the liver	222546	RFX6	OMIM:615710
HP:0001392	Abnormality of the liver	132	ADK	OMIM:614300
HP:0001392	Abnormality of the liver	85476	GFM1	OMIM:609060
HP:0001392	Abnormality of the liver	57539	WDR35	OMIM:613610
HP:0001392	Abnormality of the liver	5443	POMC	ORPHA:71526
HP:0001392	Abnormality of the liver	5443	POMC	OMIM:609734
HP:0001392	Abnormality of the liver	3032	HADHB	ORPHA:746
HP:0001392	Abnormality of the liver	3030	HADHA	ORPHA:746
HP:0001392	Abnormality of the liver	3030	HADHA	OMIM:609015
HP:0001392	Abnormality of the liver	10056	FARSB	OMIM:613658
HP:0001392	Abnormality of the liver	9420	CYP7B1	ORPHA:79302
HP:0001392	Abnormality of the liver	6718	AKR1D1	ORPHA:79303
HP:0001392	Abnormality of the liver	215	ABCD1	ORPHA:369942
HP:0001392	Abnormality of the liver	10134	BCAP31	ORPHA:369942
HP:0001392	Abnormality of the liver	617	BCS1L	OMIM:603358
HP:0001392	Abnormality of the liver	617	BCS1L	OMIM:124000
HP:0001392	Abnormality of the liver	617	BCS1L	ORPHA:53693
HP:0001392	Abnormality of the liver	9095	TBX19	OMIM:201400
HP:0001392	Abnormality of the liver	374879	ZNF699	OMIM:619488
HP:0001392	Abnormality of the liver	27031	NPHP3	OMIM:208540
HP:0001392	Abnormality of the liver	27031	NPHP3	OMIM:267010
HP:0001392	Abnormality of the liver	4141	MARS1	OMIM:615486
HP:0001392	Abnormality of the liver	6288	SAA1	ORPHA:85445
HP:0001392	Abnormality of the liver	644	BLVRA	OMIM:614156
HP:0001392	Abnormality of the liver	169792	GLIS3	OMIM:610199
HP:0001392	Abnormality of the liver	51473	DCDC2	ORPHA:84081
HP:0001392	Abnormality of the liver	51473	DCDC2	OMIM:616217
HP:0001392	Abnormality of the liver	51473	DCDC2	OMIM:617394
HP:0001392	Abnormality of the liver	23729	SHPK	ORPHA:440713
HP:0001392	Abnormality of the liver	9076	CLDN1	ORPHA:59303
HP:0001392	Abnormality of the liver	9076	CLDN1	OMIM:607626
HP:0001392	Abnormality of the liver	10551	AGR2	OMIM:620233
HP:0001392	Abnormality of the liver	9968	MED12	OMIM:301068
HP:0001392	Abnormality of the liver	55898	UNC45A	OMIM:619377
HP:0001392	Abnormality of the liver	60561	RINT1	OMIM:618641
HP:0001392	Abnormality of the liver	79989	IFT56	OMIM:619534
HP:0001392	Abnormality of the liver	3930	LBR	OMIM:613471
HP:0001392	Abnormality of the liver	537	ATP6AP1	OMIM:300972
HP:0001392	Abnormality of the liver	50619	DEF6	OMIM:619573
HP:0001392	Abnormality of the liver	7019	TFAM	OMIM:617156
HP:0001392	Abnormality of the liver	3643	INSR	OMIM:246200
HP:0001392	Abnormality of the liver	10616	RBCK1	OMIM:615895
HP:0001392	Abnormality of the liver	130589	GALM	ORPHA:570422
HP:0001392	Abnormality of the liver	383	ARG1	OMIM:207800
HP:0001392	Abnormality of the liver	3376	IARS1	ORPHA:541423
HP:0001392	Abnormality of the liver	54532	USP53	OMIM:619658
HP:0001392	Abnormality of the liver	284086	NEK8	OMIM:615415
HP:0001392	Abnormality of the liver	3295	HSD17B4	OMIM:261515
HP:0001392	Abnormality of the liver	4853	NOTCH2	OMIM:610205
HP:0001392	Abnormality of the liver	26146	TRAF3IP1	OMIM:616629
HP:0001392	Abnormality of the liver	124454	EARS2	OMIM:614924
HP:0001392	Abnormality of the liver	1581	CYP7A1	ORPHA:209902
HP:0001392	Abnormality of the liver	203286	ANKS6	OMIM:615382
HP:0001392	Abnormality of the liver	113220	KIF12	OMIM:619662
HP:0001392	Abnormality of the liver	57511	COG6	OMIM:614576
HP:0001392	Abnormality of the liver	51134	CEP83	OMIM:615862
HP:0001392	Abnormality of the liver	2783	GNB2	OMIM:619503
HP:0001392	Abnormality of the liver	79053	ALG8	OMIM:608104
HP:0001392	Abnormality of the liver	6811	STX5	OMIM:620454
HP:0001392	Abnormality of the liver	1174	AP1S1	OMIM:609313
HP:0001392	Abnormality of the liver	4067	LYN	OMIM:620376
HP:0001392	Abnormality of the liver	26276	VPS33B	OMIM:620010
HP:0001392	Abnormality of the liver	2243	FGA	OMIM:105200
HP:0001392	Abnormality of the liver	286053	NSMCE2	OMIM:617253
HP:0001392	Abnormality of the liver	286053	NSMCE2	ORPHA:436182
HP:0001392	Abnormality of the liver	1355	COX15	OMIM:615119
HP:0001392	Abnormality of the liver	81570	CLPB	ORPHA:445038
HP:0001392	Abnormality of the liver	81570	CLPB	OMIM:616271
HP:0001392	Abnormality of the liver	80222	TARS2	OMIM:615918
HP:0001392	Abnormality of the liver	220296	HEPACAM	ORPHA:210548
HP:0001392	Abnormality of the liver	8882	ZPR1	OMIM:619321
HP:0001392	Abnormality of the liver	3949	LDLR	ORPHA:391665
HP:0001392	Abnormality of the liver	255738	PCSK9	ORPHA:391665
HP:0001392	Abnormality of the liver	26119	LDLRAP1	ORPHA:391665
HP:0001392	Abnormality of the liver	338	APOB	ORPHA:391665
HP:0001392	Abnormality of the liver	64240	ABCG5	ORPHA:391665
HP:0001392	Abnormality of the liver	84823	LMNB2	ORPHA:79087
HP:0001392	Abnormality of the liver	84823	LMNB2	OMIM:608709
HP:0001392	Abnormality of the liver	28976	ACAD9	ORPHA:99901
HP:0001392	Abnormality of the liver	1588	CYP19A1	ORPHA:91
HP:0001392	Abnormality of the liver	10128	LRPPRC	ORPHA:70472
HP:0001392	Abnormality of the liver	5106	PCK2	OMIM:261650
HP:0001392	Abnormality of the liver	79798	ARMC5	ORPHA:189427
HP:0001392	Abnormality of the liver	23028	KDM1A	ORPHA:189427
HP:0001392	Abnormality of the liver	641	BLM	OMIM:210900
HP:0001392	Abnormality of the liver	51703	ACSL5	OMIM:620357
HP:0001392	Abnormality of the liver	51128	SAR1B	ORPHA:71
HP:0001392	Abnormality of the liver	11128	POLR3A	ORPHA:3455
HP:0001392	Abnormality of the liver	3178	HNRNPA1	ORPHA:52430
HP:0001392	Abnormality of the liver	7415	VCP	ORPHA:52430
HP:0001392	Abnormality of the liver	3181	HNRNPA2B1	ORPHA:52430
HP:0001392	Abnormality of the liver	1650	DDOST	ORPHA:300536
HP:0001392	Abnormality of the liver	9757	KMT2B	OMIM:619934
HP:0001392	Abnormality of the liver	9054	NFS1	OMIM:619386
HP:0001392	Abnormality of the liver	35	ACADS	ORPHA:26792
HP:0001392	Abnormality of the liver	435	ASL	ORPHA:23
HP:0001392	Abnormality of the liver	355	FAS	ORPHA:3261
HP:0001392	Abnormality of the liver	356	FASLG	ORPHA:3261
HP:0001392	Abnormality of the liver	843	CASP10	ORPHA:3261
HP:0001392	Abnormality of the liver	695	BTK	OMIM:300755
HP:0001392	Abnormality of the liver	83932	SPRTN	OMIM:616200
HP:0001392	Abnormality of the liver	9414	TJP2	OMIM:615878
HP:0001392	Abnormality of the liver	2542	SLC37A4	OMIM:232220
HP:0001392	Abnormality of the liver	2542	SLC37A4	ORPHA:79259
HP:0001392	Abnormality of the liver	2542	SLC37A4	OMIM:232240
HP:0001392	Abnormality of the liver	2153	F5	OMIM:600880
HP:0001392	Abnormality of the liver	3717	JAK2	OMIM:600880
HP:0001392	Abnormality of the liver	3594	IL12RB1	ORPHA:186
HP:0001392	Abnormality of the liver	23534	TNPO3	ORPHA:186
HP:0001392	Abnormality of the liver	3592	IL12A	ORPHA:186
HP:0001392	Abnormality of the liver	6689	SPIB	ORPHA:186
HP:0001392	Abnormality of the liver	5450	POU2AF1	ORPHA:186
HP:0001392	Abnormality of the liver	9966	TNFSF15	ORPHA:186
HP:0001392	Abnormality of the liver	79258	MMEL1	ORPHA:186
HP:0001392	Abnormality of the liver	3663	IRF5	ORPHA:186
HP:0001392	Abnormality of the liver	64218	SEMA4A	ORPHA:440437
HP:0001392	Abnormality of the liver	472	ATM	ORPHA:440437
HP:0001392	Abnormality of the liver	5426	POLE	ORPHA:440437
HP:0001392	Abnormality of the liver	657	BMPR1A	ORPHA:440437
HP:0001392	Abnormality of the liver	6224	RPS20	ORPHA:440437
HP:0001392	Abnormality of the liver	4595	MUTYH	ORPHA:440437
HP:0001392	Abnormality of the liver	5424	POLD1	ORPHA:440437
HP:0001392	Abnormality of the liver	11200	CHEK2	ORPHA:440437
HP:0001392	Abnormality of the liver	182	JAG1	OMIM:118450
HP:0001392	Abnormality of the liver	6514	SLC2A2	ORPHA:2088
HP:0001392	Abnormality of the liver	3145	HMBS	OMIM:176000
HP:0001392	Abnormality of the liver	3145	HMBS	ORPHA:79276
HP:0001392	Abnormality of the liver	540	ATP7B	OMIM:277900
HP:0001392	Abnormality of the liver	5573	PRKAR1A	ORPHA:1359
HP:0001392	Abnormality of the liver	50940	PDE11A	ORPHA:1359
HP:0001392	Abnormality of the liver	10165	SLC25A13	OMIM:603471
HP:0001392	Abnormality of the liver	10165	SLC25A13	ORPHA:247585
HP:0001392	Abnormality of the liver	8647	ABCB11	OMIM:601847
HP:0001392	Abnormality of the liver	2859	GPR35	ORPHA:171
HP:0001392	Abnormality of the liver	10507	SEMA4D	ORPHA:171
HP:0001392	Abnormality of the liver	4485	MST1	ORPHA:171
HP:0001392	Abnormality of the liver	6925	TCF4	ORPHA:171
HP:0001392	Abnormality of the liver	2538	G6PC1	OMIM:232200
HP:0001392	Abnormality of the liver	4358	MPV17	OMIM:256810
HP:0001392	Abnormality of the liver	654	BMP6	ORPHA:465508
HP:0001392	Abnormality of the liver	5257	PHKB	ORPHA:79240
HP:0001392	Abnormality of the liver	2184	FAH	OMIM:276700
HP:0001392	Abnormality of the liver	2184	FAH	ORPHA:882
HP:0001392	Abnormality of the liver	3481	IGF2	OMIM:180860
HP:0001392	Abnormality of the liver	5836	PYGL	ORPHA:369
HP:0001392	Abnormality of the liver	4233	MET	OMIM:114550
HP:0001392	Abnormality of the liver	1499	CTNNB1	OMIM:114550
HP:0001392	Abnormality of the liver	8312	AXIN1	OMIM:114550
HP:0001392	Abnormality of the liver	324	APC	OMIM:114550
HP:0001392	Abnormality of the liver	5157	PDGFRL	OMIM:114550
HP:0001392	Abnormality of the liver	3482	IGF2R	OMIM:114550
HP:0001392	Abnormality of the liver	841	CASP8	OMIM:114550
HP:0001392	Abnormality of the liver	55340	GIMAP5	OMIM:619463
HP:0001392	Abnormality of the liver	7289	TULP3	OMIM:619902
HP:0001392	Abnormality of the liver	1371	CPOX	ORPHA:79273
HP:0001392	Abnormality of the liver	7389	UROD	OMIM:176100
HP:0001392	Abnormality of the liver	650	BMP2	OMIM:235200
HP:0001392	Abnormality of the liver	123264	SLC51B	OMIM:619481
HP:0001392	Abnormality of the liver	2271	FH	OMIM:606812
HP:0001392	Abnormality of the liver	6309	SC5D	ORPHA:46059
HP:0001392	Abnormality of the liver	6309	SC5D	OMIM:607330
HP:0001392	Abnormality of the liver	5236	PGM1	OMIM:614921
HP:0001392	Abnormality of the liver	197131	UBR1	OMIM:243800
HP:0001392	Abnormality of the liver	55610	VPS50	OMIM:619685
HP:0001392	Abnormality of the liver	5205	ATP8B1	OMIM:147480
HP:0001392	Abnormality of the liver	162	AP1B1	ORPHA:171851
HP:0001392	Abnormality of the liver	200931	SLC51A	OMIM:619484
HP:0001392	Abnormality of the liver	51726	DNAJB11	OMIM:618061
HP:0001392	Abnormality of the liver	51726	DNAJB11	ORPHA:730
HP:0001392	Abnormality of the liver	23193	GANAB	ORPHA:730
HP:0001392	Abnormality of the liver	23193	GANAB	OMIM:600666
HP:0001392	Abnormality of the liver	5310	PKD1	ORPHA:730
HP:0001392	Abnormality of the liver	5310	PKD1	OMIM:173900
HP:0001392	Abnormality of the liver	29880	ALG5	ORPHA:730
HP:0001392	Abnormality of the liver	80114	BICC1	ORPHA:730
HP:0001392	Abnormality of the liver	7248	TSC1	ORPHA:805
HP:0001392	Abnormality of the liver	7249	TSC2	ORPHA:805
HP:0001392	Abnormality of the liver	125988	MICOS13	OMIM:618329
HP:0001392	Abnormality of the liver	72	ACTG2	OMIM:619431
HP:0001392	Abnormality of the liver	2006	ELN	OMIM:194050
HP:0001392	Abnormality of the liver	51085	MLXIPL	OMIM:194050
HP:0001392	Abnormality of the liver	92345	NAF1	OMIM:620365
HP:0001392	Abnormality of the liver	65080	MRPL44	OMIM:615395
HP:0001392	Abnormality of the liver	79587	CARS2	OMIM:616672
HP:0001392	Abnormality of the liver	131118	DNAJC19	OMIM:610198
HP:0001392	Abnormality of the liver	131118	DNAJC19	ORPHA:66634
HP:0001392	Abnormality of the liver	54543	TOMM7	OMIM:620601
HP:0001392	Abnormality of the liver	861	RUNX1	ORPHA:98850
HP:0001392	Abnormality of the liver	3071	NCKAP1L	OMIM:618982
HP:0001392	Abnormality of the liver	55823	VPS11	ORPHA:466934
HP:0001392	Abnormality of the liver	5880	RAC2	OMIM:618986
HP:0001392	Abnormality of the liver	6775	STAT4	ORPHA:85408
HP:0001392	Abnormality of the liver	79722	ANKRD55	ORPHA:85408
HP:0001392	Abnormality of the liver	26191	PTPN22	ORPHA:85408
HP:0001392	Abnormality of the liver	3559	IL2RA	ORPHA:85408
HP:0001392	Abnormality of the liver	3559	IL2RA	OMIM:606367
HP:0001392	Abnormality of the liver	5771	PTPN2	ORPHA:85408
HP:0001392	Abnormality of the liver	3459	IFNGR1	OMIM:209950
HP:0001392	Abnormality of the liver	3716	JAK1	OMIM:618999
HP:0001392	Abnormality of the liver	2122	MECOM	OMIM:616738
HP:0001392	Abnormality of the liver	5476	CTSA	OMIM:256540
HP:0001392	Abnormality of the liver	9382	COG1	ORPHA:263508
HP:0001392	Abnormality of the liver	5251	PHEX	OMIM:307800
HP:0001392	Abnormality of the liver	26154	ABCA12	OMIM:601277
HP:0001392	Abnormality of the liver	10125	RASGRP1	OMIM:618534
HP:0001392	Abnormality of the liver	970	CD70	OMIM:618261
HP:0001392	Abnormality of the liver	3572	IL6ST	OMIM:619750
HP:0001392	Abnormality of the liver	6774	STAT3	OMIM:615952
HP:0001392	Abnormality of the liver	8517	IKBKG	OMIM:301081
HP:0001392	Abnormality of the liver	2263	FGFR2	OMIM:614592
HP:0001392	Abnormality of the liver	2263	FGFR2	ORPHA:313855
HP:0001392	Abnormality of the liver	5788	PTPRC	OMIM:619924
HP:0001392	Abnormality of the liver	5294	PIK3CG	OMIM:619802
HP:0001392	Abnormality of the liver	3718	JAK3	ORPHA:35078
HP:0001392	Abnormality of the liver	84868	HAVCR2	ORPHA:86884
HP:0001392	Abnormality of the liver	2193	FARSA	OMIM:619013
HP:0001392	Abnormality of the liver	3458	IFNG	OMIM:618963
HP:0001392	Abnormality of the liver	9939	RBM8A	OMIM:274000
HP:0001392	Abnormality of the liver	84153	RNASEH2C	OMIM:610329
HP:0001392	Abnormality of the liver	84153	RNASEH2C	ORPHA:51
HP:0001392	Abnormality of the liver	1513	CTSK	ORPHA:763
HP:0001392	Abnormality of the liver	25939	SAMHD1	ORPHA:51
HP:0001392	Abnormality of the liver	79621	RNASEH2B	ORPHA:51
HP:0001392	Abnormality of the liver	134353	LSM11	ORPHA:51
HP:0001392	Abnormality of the liver	1374	CPT1A	ORPHA:156
HP:0001392	Abnormality of the liver	1374	CPT1A	OMIM:255120
HP:0001392	Abnormality of the liver	2137	EXTL3	ORPHA:508533
HP:0001392	Abnormality of the liver	3561	IL2RG	ORPHA:276
HP:0001392	Abnormality of the liver	3561	IL2RG	OMIM:300400
HP:0001392	Abnormality of the liver	3561	IL2RG	ORPHA:39041
HP:0001392	Abnormality of the liver	6584	SLC22A5	ORPHA:158
HP:0001392	Abnormality of the liver	6584	SLC22A5	OMIM:212140
HP:0001392	Abnormality of the liver	1497	CTNS	OMIM:219800
HP:0001392	Abnormality of the liver	875	CBS	ORPHA:394
HP:0001392	Abnormality of the liver	54539	NDUFB11	ORPHA:2609
HP:0001392	Abnormality of the liver	25915	NDUFAF3	ORPHA:2609
HP:0001392	Abnormality of the liver	51103	NDUFAF1	ORPHA:2609
HP:0001392	Abnormality of the liver	51103	NDUFAF1	OMIM:618234
HP:0001392	Abnormality of the liver	91942	NDUFAF2	ORPHA:2609
HP:0001392	Abnormality of the liver	51300	TIMMDC1	ORPHA:2609
HP:0001392	Abnormality of the liver	4716	NDUFB10	ORPHA:2609
HP:0001392	Abnormality of the liver	4723	NDUFV1	ORPHA:2609
HP:0001392	Abnormality of the liver	55572	FOXRED1	ORPHA:2609
HP:0001392	Abnormality of the liver	284184	NDUFAF8	ORPHA:2609
HP:0001392	Abnormality of the liver	55863	TMEM126B	ORPHA:2609
HP:0001392	Abnormality of the liver	4535	MT-ND1	ORPHA:2609
HP:0001392	Abnormality of the liver	4535	MT-ND1	ORPHA:255210
HP:0001392	Abnormality of the liver	4537	MT-ND3	ORPHA:2609
HP:0001392	Abnormality of the liver	4537	MT-ND3	ORPHA:255210
HP:0001392	Abnormality of the liver	4729	NDUFV2	ORPHA:2609
HP:0001392	Abnormality of the liver	4694	NDUFA1	ORPHA:2609
HP:0001392	Abnormality of the liver	4720	NDUFS2	ORPHA:2609
HP:0001392	Abnormality of the liver	4724	NDUFS4	ORPHA:2609
HP:0001392	Abnormality of the liver	4724	NDUFS4	OMIM:252010
HP:0001392	Abnormality of the liver	4726	NDUFS6	ORPHA:2609
HP:0001392	Abnormality of the liver	4728	NDUFS8	ORPHA:2609
HP:0001392	Abnormality of the liver	4722	NDUFS3	ORPHA:2609
HP:0001392	Abnormality of the liver	79133	NDUFAF5	ORPHA:2609
HP:0001392	Abnormality of the liver	126328	NDUFA11	ORPHA:2609
HP:0001392	Abnormality of the liver	4709	NDUFB3	ORPHA:2609
HP:0001392	Abnormality of the liver	80224	NUBPL	ORPHA:2609
HP:0001392	Abnormality of the liver	29078	NDUFAF4	ORPHA:2609
HP:0001392	Abnormality of the liver	374291	NDUFS7	ORPHA:2609
HP:0001392	Abnormality of the liver	374291	NDUFS7	OMIM:618224
HP:0001392	Abnormality of the liver	4700	NDUFA6	ORPHA:2609
HP:0001392	Abnormality of the liver	4536	MT-ND2	ORPHA:2609
HP:0001392	Abnormality of the liver	4536	MT-ND2	ORPHA:255210
HP:0001392	Abnormality of the liver	4719	NDUFS1	ORPHA:2609
HP:0001392	Abnormality of the liver	4719	NDUFS1	OMIM:618226
HP:0001392	Abnormality of the liver	4715	NDUFB9	ORPHA:2609
HP:0001392	Abnormality of the liver	26235	FBXL4	OMIM:615471
HP:0001392	Abnormality of the liver	57128	LYRM4	OMIM:615595
HP:0001392	Abnormality of the liver	5728	PTEN	OMIM:605309
HP:0001392	Abnormality of the liver	5728	PTEN	ORPHA:397596
HP:0001392	Abnormality of the liver	1493	CTLA4	ORPHA:436159
HP:0001392	Abnormality of the liver	1493	CTLA4	OMIM:616100
HP:0001392	Abnormality of the liver	1493	CTLA4	ORPHA:3162
HP:0001392	Abnormality of the liver	1493	CTLA4	ORPHA:2584
HP:0001392	Abnormality of the liver	5994	RFXAP	OMIM:620817
HP:0001392	Abnormality of the liver	1161	ERCC8	ORPHA:90324
HP:0001392	Abnormality of the liver	1161	ERCC8	ORPHA:90321
HP:0001392	Abnormality of the liver	1161	ERCC8	ORPHA:90322
HP:0001392	Abnormality of the liver	1161	ERCC8	OMIM:216400
HP:0001392	Abnormality of the liver	2074	ERCC6	ORPHA:90324
HP:0001392	Abnormality of the liver	2074	ERCC6	ORPHA:90321
HP:0001392	Abnormality of the liver	2074	ERCC6	ORPHA:90322
HP:0001392	Abnormality of the liver	2074	ERCC6	OMIM:133540
HP:0001392	Abnormality of the liver	55240	STEAP3	OMIM:615234
HP:0001392	Abnormality of the liver	60684	TRAPPC11	OMIM:615356
HP:0001392	Abnormality of the liver	60684	TRAPPC11	ORPHA:369840
HP:0001392	Abnormality of the liver	19	ABCA1	OMIM:205400
HP:0001392	Abnormality of the liver	63924	CIDEC	OMIM:615238
HP:0001392	Abnormality of the liver	63924	CIDEC	ORPHA:435651
HP:0001392	Abnormality of the liver	2720	GLB1	OMIM:230600
HP:0001392	Abnormality of the liver	2720	GLB1	OMIM:230650
HP:0001392	Abnormality of the liver	2720	GLB1	OMIM:230500
HP:0001392	Abnormality of the liver	2720	GLB1	OMIM:253010
HP:0001392	Abnormality of the liver	84334	COA8	ORPHA:436271
HP:0001392	Abnormality of the liver	51	ACOX1	ORPHA:2971
HP:0001392	Abnormality of the liver	51	ACOX1	OMIM:264470
HP:0001392	Abnormality of the liver	51099	ABHD5	OMIM:275630
HP:0001392	Abnormality of the liver	51099	ABHD5	ORPHA:98907
HP:0001392	Abnormality of the liver	2067	ERCC1	ORPHA:90322
HP:0001392	Abnormality of the liver	5604	MAP2K1	ORPHA:389
HP:0001392	Abnormality of the liver	4893	NRAS	ORPHA:389
HP:0001392	Abnormality of the liver	4893	NRAS	ORPHA:648
HP:0001392	Abnormality of the liver	4893	NRAS	OMIM:614470
HP:0001392	Abnormality of the liver	673	BRAF	ORPHA:389
HP:0001392	Abnormality of the liver	4538	MT-ND4	ORPHA:255210
HP:0001392	Abnormality of the liver	4567	MT-TL1	ORPHA:255210
HP:0001392	Abnormality of the liver	4578	MT-TW	ORPHA:255210
HP:0001392	Abnormality of the liver	4577	MT-TV	ORPHA:255210
HP:0001392	Abnormality of the liver	4508	MT-ATP6	ORPHA:255210
HP:0001392	Abnormality of the liver	4508	MT-ATP6	ORPHA:254913
HP:0001392	Abnormality of the liver	4540	MT-ND5	ORPHA:255210
HP:0001392	Abnormality of the liver	4541	MT-ND6	ORPHA:255210
HP:0001392	Abnormality of the liver	4566	MT-TK	ORPHA:255210
HP:0001392	Abnormality of the liver	4210	MEFV	OMIM:249100
HP:0001392	Abnormality of the liver	939	CD27	OMIM:615122
HP:0001392	Abnormality of the liver	1855	DVL1	OMIM:616331
HP:0001392	Abnormality of the liver	5184	PEPD	OMIM:170100
HP:0001392	Abnormality of the liver	5184	PEPD	ORPHA:742
HP:0001392	Abnormality of the liver	65082	VPS33A	OMIM:617303
HP:0001392	Abnormality of the liver	4000	LMNA	OMIM:248370
HP:0001392	Abnormality of the liver	4000	LMNA	ORPHA:280365
HP:0001392	Abnormality of the liver	4000	LMNA	ORPHA:79084
HP:0001392	Abnormality of the liver	4000	LMNA	ORPHA:2348
HP:0001392	Abnormality of the liver	4000	LMNA	OMIM:151660
HP:0001392	Abnormality of the liver	79158	GNPTAB	OMIM:252500
HP:0001392	Abnormality of the liver	79158	GNPTAB	OMIM:252600
HP:0001392	Abnormality of the liver	7086	TKT	ORPHA:488618
HP:0001392	Abnormality of the liver	1536	CYBB	ORPHA:379
HP:0001392	Abnormality of the liver	1536	CYBB	OMIM:306400
HP:0001392	Abnormality of the liver	4688	NCF2	ORPHA:379
HP:0001392	Abnormality of the liver	4688	NCF2	OMIM:233710
HP:0001392	Abnormality of the liver	1535	CYBA	ORPHA:379
HP:0001392	Abnormality of the liver	1535	CYBA	OMIM:233690
HP:0001392	Abnormality of the liver	4689	NCF4	ORPHA:379
HP:0001392	Abnormality of the liver	653361	NCF1	ORPHA:379
HP:0001392	Abnormality of the liver	653361	NCF1	OMIM:233700
HP:0001392	Abnormality of the liver	79415	CYBC1	ORPHA:379
HP:0001392	Abnormality of the liver	6023	RMRP	ORPHA:175
HP:0001392	Abnormality of the liver	6023	RMRP	ORPHA:39041
HP:0001392	Abnormality of the liver	6772	STAT1	OMIM:614162
HP:0001392	Abnormality of the liver	5105	PCK1	OMIM:261680
HP:0001392	Abnormality of the liver	103	ADAR	OMIM:615010
HP:0001392	Abnormality of the liver	91869	RFT1	ORPHA:244310
HP:0001392	Abnormality of the liver	91869	RFT1	OMIM:612015
HP:0001392	Abnormality of the liver	6573	SLC19A1	OMIM:620603
HP:0001392	Abnormality of the liver	55109	AGGF1	ORPHA:90308
HP:0001392	Abnormality of the liver	1716	DGUOK	OMIM:251880
HP:0001392	Abnormality of the liver	1716	DGUOK	OMIM:617068
HP:0001392	Abnormality of the liver	57231	SNX14	OMIM:616354
HP:0001392	Abnormality of the liver	28755	TRAC	OMIM:615387
HP:0001392	Abnormality of the liver	388962	BOLA3	OMIM:614299
HP:0001392	Abnormality of the liver	788	SLC25A20	ORPHA:159
HP:0001392	Abnormality of the liver	788	SLC25A20	OMIM:212138
HP:0001392	Abnormality of the liver	3039	HBA1	ORPHA:163596
HP:0001392	Abnormality of the liver	3039	HBA1	OMIM:613978
HP:0001392	Abnormality of the liver	3040	HBA2	ORPHA:163596
HP:0001392	Abnormality of the liver	3040	HBA2	OMIM:613978
HP:0001392	Abnormality of the liver	1186	CLCN7	OMIM:618541
HP:0001392	Abnormality of the liver	1186	CLCN7	ORPHA:667
HP:0001392	Abnormality of the liver	1186	CLCN7	OMIM:611490
HP:0001392	Abnormality of the liver	10661	KLF1	ORPHA:46532
HP:0001392	Abnormality of the liver	10661	KLF1	OMIM:613673
HP:0001392	Abnormality of the liver	3047	HBG1	ORPHA:46532
HP:0001392	Abnormality of the liver	3048	HBG2	ORPHA:46532
HP:0001392	Abnormality of the liver	3048	HBG2	OMIM:613977
HP:0001392	Abnormality of the liver	5311	PKD2	OMIM:613095
HP:0001392	Abnormality of the liver	8482	SEMA7A	OMIM:619874
HP:0001392	Abnormality of the liver	1594	CYP27B1	ORPHA:289157
HP:0001392	Abnormality of the liver	120227	CYP2R1	ORPHA:289157
HP:0001392	Abnormality of the liver	2200	FBN1	OMIM:614185
HP:0001392	Abnormality of the liver	10068	IL18BP	OMIM:618549
HP:0001392	Abnormality of the liver	7381	UQCRB	OMIM:615158
HP:0001392	Abnormality of the liver	54440	SASH3	OMIM:301082
HP:0001392	Abnormality of the liver	285362	SUMF1	OMIM:272200
HP:0001392	Abnormality of the liver	285362	SUMF1	ORPHA:585
HP:0001392	Abnormality of the liver	2203	FBP1	ORPHA:348
HP:0001392	Abnormality of the liver	2203	FBP1	OMIM:229700
HP:0001392	Abnormality of the liver	166785	MMAA	OMIM:251100
HP:0001392	Abnormality of the liver	85365	ALG2	ORPHA:79326
HP:0001392	Abnormality of the liver	85365	ALG2	OMIM:607906
HP:0001392	Abnormality of the liver	4598	MVK	ORPHA:343
HP:0001392	Abnormality of the liver	5896	RAG1	OMIM:603554
HP:0001392	Abnormality of the liver	5896	RAG1	ORPHA:39041
HP:0001392	Abnormality of the liver	5896	RAG1	ORPHA:331206
HP:0001392	Abnormality of the liver	5897	RAG2	OMIM:603554
HP:0001392	Abnormality of the liver	5897	RAG2	ORPHA:39041
HP:0001392	Abnormality of the liver	5897	RAG2	ORPHA:331206
HP:0001392	Abnormality of the liver	64421	DCLRE1C	OMIM:603554
HP:0001392	Abnormality of the liver	64421	DCLRE1C	OMIM:602450
HP:0001392	Abnormality of the liver	64421	DCLRE1C	ORPHA:39041
HP:0001392	Abnormality of the liver	5551	PRF1	OMIM:603553
HP:0001392	Abnormality of the liver	5551	PRF1	ORPHA:540
HP:0001392	Abnormality of the liver	79796	ALG9	ORPHA:79328
HP:0001392	Abnormality of the liver	79796	ALG9	OMIM:608776
HP:0001392	Abnormality of the liver	8676	STX11	OMIM:603552
HP:0001392	Abnormality of the liver	8676	STX11	ORPHA:540
HP:0001392	Abnormality of the liver	57169	ZNFX1	OMIM:619644
HP:0001392	Abnormality of the liver	11311	VPS45	OMIM:615285
HP:0001392	Abnormality of the liver	10991	SLC38A3	OMIM:619881
HP:0001392	Abnormality of the liver	11231	SEC63	ORPHA:2924
HP:0001392	Abnormality of the liver	11231	SEC63	OMIM:617004
HP:0001392	Abnormality of the liver	5589	PRKCSH	ORPHA:2924
HP:0001392	Abnormality of the liver	4041	LRP5	ORPHA:2924
HP:0001392	Abnormality of the liver	7841	MOGS	ORPHA:79330
HP:0001392	Abnormality of the liver	7841	MOGS	OMIM:606056
HP:0001392	Abnormality of the liver	2683	B4GALT1	ORPHA:79332
HP:0001392	Abnormality of the liver	91949	COG7	ORPHA:79333
HP:0001392	Abnormality of the liver	91949	COG7	OMIM:608779
HP:0001392	Abnormality of the liver	57104	PNPLA2	OMIM:610717
HP:0001392	Abnormality of the liver	57104	PNPLA2	ORPHA:565612
HP:0001392	Abnormality of the liver	57104	PNPLA2	ORPHA:98908
HP:0001392	Abnormality of the liver	38	ACAT1	ORPHA:134
HP:0001392	Abnormality of the liver	7030	TFE3	OMIM:301066
HP:0001392	Abnormality of the liver	5966	REL	OMIM:619652
HP:0001392	Abnormality of the liver	23162	MAPK8IP3	OMIM:618443
HP:0001392	Abnormality of the liver	5692	PSMB4	OMIM:617591
HP:0001392	Abnormality of the liver	3423	IDS	OMIM:309900
HP:0001392	Abnormality of the liver	5286	PIK3C2A	OMIM:618440
HP:0001392	Abnormality of the liver	84168	ANTXR1	OMIM:230740
HP:0001392	Abnormality of the liver	51311	TLR8	OMIM:301078
HP:0001392	Abnormality of the liver	546	ATRX	ORPHA:100075
HP:0001392	Abnormality of the liver	4615	MYD88	ORPHA:33226
HP:0001392	Abnormality of the liver	6576	SLC25A1	OMIM:615182
HP:0001392	Abnormality of the liver	205327	C2orf69	OMIM:619423
HP:0001392	Abnormality of the liver	4633	MYL2	OMIM:619424
HP:0001392	Abnormality of the liver	3000	GUCY2D	OMIM:204000
HP:0001392	Abnormality of the liver	344	APOC2	OMIM:207750
HP:0001392	Abnormality of the liver	335	APOA1	OMIM:620657
HP:0001392	Abnormality of the liver	2582	GALE	OMIM:620776
HP:0001392	Abnormality of the liver	2582	GALE	OMIM:230350
HP:0001392	Abnormality of the liver	846	CASR	OMIM:239200
HP:0001392	Abnormality of the liver	846	CASR	ORPHA:417
HP:0001392	Abnormality of the liver	4594	MMUT	ORPHA:79312
HP:0001392	Abnormality of the liver	4594	MMUT	ORPHA:289916
HP:0001392	Abnormality of the liver	4594	MMUT	OMIM:251000
HP:0001392	Abnormality of the liver	3155	HMGCL	ORPHA:20
HP:0001392	Abnormality of the liver	3155	HMGCL	OMIM:246450
HP:0001392	Abnormality of the liver	65992	DDRGK1	OMIM:602557
HP:0001392	Abnormality of the liver	6448	SGSH	OMIM:252900
HP:0001392	Abnormality of the liver	10466	COG5	ORPHA:263487
HP:0001392	Abnormality of the liver	10112	KIF20A	OMIM:619433
HP:0001392	Abnormality of the liver	10112	KIF20A	ORPHA:75249
HP:0001392	Abnormality of the liver	331	XIAP	OMIM:300635
HP:0001392	Abnormality of the liver	331	XIAP	OMIM:308240
HP:0001392	Abnormality of the liver	54517	PUS7	OMIM:618342
HP:0001392	Abnormality of the liver	8818	DPM2	ORPHA:329178
HP:0001392	Abnormality of the liver	3659	IRF1	OMIM:620668
HP:0001392	Abnormality of the liver	9842	PLEKHM1	OMIM:618107
HP:0001392	Abnormality of the liver	10102	TSFM	OMIM:610505
HP:0001392	Abnormality of the liver	54790	TET2	ORPHA:75564
HP:0001392	Abnormality of the liver	54790	TET2	ORPHA:98849
HP:0001392	Abnormality of the liver	54790	TET2	ORPHA:824
HP:0001392	Abnormality of the liver	23451	SF3B1	ORPHA:75564
HP:0001392	Abnormality of the liver	10312	TCIRG1	ORPHA:667
HP:0001392	Abnormality of the liver	10312	TCIRG1	OMIM:259700
HP:0001392	Abnormality of the liver	29887	SNX10	ORPHA:667
HP:0001392	Abnormality of the liver	29887	SNX10	OMIM:615085
HP:0001392	Abnormality of the liver	8600	TNFSF11	ORPHA:667
HP:0001392	Abnormality of the liver	5095	PCCA	ORPHA:35
HP:0001392	Abnormality of the liver	5095	PCCA	OMIM:606054
HP:0001392	Abnormality of the liver	5096	PCCB	ORPHA:35
HP:0001392	Abnormality of the liver	5096	PCCB	OMIM:606054
HP:0001392	Abnormality of the liver	201294	UNC13D	ORPHA:540
HP:0001392	Abnormality of the liver	6813	STXBP2	ORPHA:540
HP:0001392	Abnormality of the liver	55315	SLC29A3	OMIM:602782
HP:0001392	Abnormality of the liver	11277	TREX1	OMIM:225750
HP:0001392	Abnormality of the liver	4695	NDUFA2	OMIM:618235
HP:0001392	Abnormality of the liver	79868	ALG13	OMIM:300884
HP:0001392	Abnormality of the liver	6729	SRP54	OMIM:260400
HP:0001392	Abnormality of the liver	51119	SBDS	OMIM:260400
HP:0001392	Abnormality of the liver	51119	SBDS	ORPHA:811
HP:0001392	Abnormality of the liver	134218	DNAJC21	OMIM:260400
HP:0001392	Abnormality of the liver	134218	DNAJC21	ORPHA:811
HP:0001392	Abnormality of the liver	22861	NLRP1	OMIM:617388
HP:0001392	Abnormality of the liver	150	ADRA2A	OMIM:620679
HP:0001392	Abnormality of the liver	5660	PSAP	OMIM:611721
HP:0001392	Abnormality of the liver	5660	PSAP	OMIM:610539
HP:0001392	Abnormality of the liver	5660	PSAP	ORPHA:139406
HP:0001392	Abnormality of the liver	55503	TRPV6	ORPHA:417
HP:0001392	Abnormality of the liver	1130	LYST	OMIM:214500
HP:0001392	Abnormality of the liver	81858	SHARPIN	OMIM:620795
HP:0001392	Abnormality of the liver	4068	SH2D1A	OMIM:308240
HP:0001392	Abnormality of the liver	10166	SLC25A15	ORPHA:415
HP:0001392	Abnormality of the liver	10166	SLC25A15	OMIM:238970
HP:0001392	Abnormality of the liver	114548	NLRP3	ORPHA:575
HP:0001392	Abnormality of the liver	114548	NLRP3	ORPHA:1451
HP:0001392	Abnormality of the liver	34	ACADM	OMIM:201450
HP:0001392	Abnormality of the liver	34	ACADM	ORPHA:42
HP:0001392	Abnormality of the liver	4125	MAN2B1	OMIM:248500
HP:0001392	Abnormality of the liver	3756	KCNH1	OMIM:135500
HP:0001392	Abnormality of the liver	3756	KCNH1	ORPHA:3473
HP:0001392	Abnormality of the liver	3394	IRF8	OMIM:226990
HP:0001392	Abnormality of the liver	11274	USP18	OMIM:617397
HP:0001392	Abnormality of the liver	10092	ARPC5	OMIM:620565
HP:0001392	Abnormality of the liver	11145	PLAAT3	OMIM:620683
HP:0001392	Abnormality of the liver	4864	NPC1	OMIM:257220
HP:0001392	Abnormality of the liver	3158	HMGCS2	OMIM:605911
HP:0001392	Abnormality of the liver	112812	FDX2	OMIM:251900
HP:0001392	Abnormality of the liver	55630	SLC39A4	OMIM:201100
HP:0001392	Abnormality of the liver	8802	SUCLG1	ORPHA:17
HP:0001392	Abnormality of the liver	6007	RHD	OMIM:619462
HP:0001392	Abnormality of the liver	3560	IL2RB	OMIM:618495
HP:0001392	Abnormality of the liver	8883	NAE1	OMIM:620210
HP:0001392	Abnormality of the liver	84701	COX4I2	OMIM:612714
HP:0001392	Abnormality of the liver	60386	SLC25A19	ORPHA:99742
HP:0001392	Abnormality of the liver	60386	SLC25A19	OMIM:607196
HP:0001392	Abnormality of the liver	56244	BTNL2	ORPHA:797
HP:0001392	Abnormality of the liver	56244	BTNL2	OMIM:612387
HP:0001392	Abnormality of the liver	3123	HLA-DRB1	ORPHA:797
HP:0001392	Abnormality of the liver	3123	HLA-DRB1	ORPHA:85414
HP:0001392	Abnormality of the liver	3123	HLA-DRB1	OMIM:181000
HP:0001392	Abnormality of the liver	8943	AP3D1	OMIM:617050
HP:0001392	Abnormality of the liver	37	ACADVL	OMIM:201475
HP:0001392	Abnormality of the liver	37	ACADVL	ORPHA:26793
HP:0001392	Abnormality of the liver	57003	CCDC47	OMIM:618268
HP:0001392	Abnormality of the liver	57061	HYMAI	ORPHA:96191
HP:0001392	Abnormality of the liver	5325	PLAGL1	ORPHA:96191
HP:0001392	Abnormality of the liver	570	BAAT	OMIM:619232
HP:0001392	Abnormality of the liver	94005	PIGS	OMIM:618143
HP:0001392	Abnormality of the liver	83706	FERMT3	OMIM:612840
HP:0001392	Abnormality of the liver	84665	MYPN	ORPHA:75249
HP:0001392	Abnormality of the liver	2318	FLNC	ORPHA:75249
HP:0001392	Abnormality of the liver	7139	TNNT2	ORPHA:75249
HP:0001392	Abnormality of the liver	7137	TNNI3	ORPHA:75249
HP:0001392	Abnormality of the liver	55636	CHD7	ORPHA:39041
HP:0001392	Abnormality of the liver	3981	LIG4	ORPHA:39041
HP:0001392	Abnormality of the liver	3981	LIG4	ORPHA:99812
HP:0001392	Abnormality of the liver	100	ADA	ORPHA:39041
HP:0001392	Abnormality of the liver	100	ADA	OMIM:102700
HP:0001392	Abnormality of the liver	3575	IL7R	ORPHA:39041
HP:0001392	Abnormality of the liver	3575	IL7R	OMIM:608971
HP:0001392	Abnormality of the liver	7504	XK	OMIM:300842
HP:0001392	Abnormality of the liver	8567	MADD	OMIM:619004
HP:0001392	Abnormality of the liver	8567	MADD	OMIM:619005
HP:0001392	Abnormality of the liver	374354	NHLRC2	OMIM:618278
HP:0001392	Abnormality of the liver	10651	MTX2	OMIM:619127
HP:0001392	Abnormality of the liver	226	ALDOA	OMIM:611881
HP:0001392	Abnormality of the liver	3557	IL1RN	OMIM:612852
HP:0001392	Abnormality of the liver	7284	TUFM	OMIM:610678
HP:0001392	Abnormality of the liver	2799	GNS	OMIM:252940
HP:0001392	Abnormality of the liver	940	CD28	ORPHA:3162
HP:0001392	Abnormality of the liver	940	CD28	ORPHA:2584
HP:0001392	Abnormality of the liver	7133	TNFRSF1B	ORPHA:3162
HP:0001392	Abnormality of the liver	7133	TNFRSF1B	ORPHA:2584
HP:0001392	Abnormality of the liver	7390	UROS	OMIM:263700
HP:0001392	Abnormality of the liver	8651	SOCS1	OMIM:619375
HP:0001392	Abnormality of the liver	9487	PIGL	OMIM:280000
HP:0001392	Abnormality of the liver	55005	RMND1	OMIM:614922
HP:0001392	Abnormality of the liver	79651	RHBDF2	ORPHA:2198
HP:0001392	Abnormality of the liver	6329	SCN4A	OMIM:620369
HP:0001392	Abnormality of the liver	2624	GATA2	ORPHA:228423
HP:0001392	Abnormality of the liver	22800	RRAS2	ORPHA:648
HP:0001392	Abnormality of the liver	867	CBL	ORPHA:648
HP:0001392	Abnormality of the liver	8216	LZTR1	ORPHA:648
HP:0001392	Abnormality of the liver	6016	RIT1	ORPHA:648
HP:0001392	Abnormality of the liver	6237	RRAS	ORPHA:648
HP:0001392	Abnormality of the liver	5894	RAF1	ORPHA:648
HP:0001392	Abnormality of the liver	22808	MRAS	ORPHA:648
HP:0001392	Abnormality of the liver	200734	SPRED2	ORPHA:648
HP:0001392	Abnormality of the liver	6654	SOS1	ORPHA:648
HP:0001392	Abnormality of the liver	6655	SOS2	ORPHA:648
HP:0001392	Abnormality of the liver	5781	PTPN11	ORPHA:648
HP:0001392	Abnormality of the liver	5922	RASA2	ORPHA:648
HP:0001392	Abnormality of the liver	138050	HGSNAT	OMIM:252930
HP:0001392	Abnormality of the liver	10020	GNE	ORPHA:3166
HP:0001392	Abnormality of the liver	10020	GNE	OMIM:269921
HP:0001392	Abnormality of the liver	1376	CPT2	ORPHA:228305
HP:0001392	Abnormality of the liver	1376	CPT2	ORPHA:228308
HP:0001392	Abnormality of the liver	1376	CPT2	OMIM:600649
HP:0001392	Abnormality of the liver	1376	CPT2	OMIM:608836
HP:0001392	Abnormality of the liver	1719	DHFR	OMIM:613839
HP:0001392	Abnormality of the liver	64131	XYLT1	ORPHA:370930
HP:0001392	Abnormality of the liver	129285	PPP1R21	OMIM:619383
HP:0001392	Abnormality of the liver	1604	CD55	OMIM:226300
HP:0001392	Abnormality of the liver	146059	CDAN1	OMIM:224120
HP:0001392	Abnormality of the liver	10535	RNASEH2A	OMIM:610333
HP:0001392	Abnormality of the liver	5696	PSMB8	OMIM:256040
HP:0001392	Abnormality of the liver	4669	NAGLU	OMIM:252920
HP:0001392	Abnormality of the liver	27183	VPS4A	OMIM:619273
HP:0001392	Abnormality of the liver	144811	LACC1	ORPHA:85414
HP:0001392	Abnormality of the liver	3569	IL6	ORPHA:85414
HP:0001392	Abnormality of the liver	4574	MT-TS1	OMIM:220110
HP:0001392	Abnormality of the liver	4570	MT-TN	OMIM:220110
HP:0001392	Abnormality of the liver	6834	SURF1	OMIM:220110
HP:0001392	Abnormality of the liver	83700	JAM3	OMIM:613730
HP:0001392	Abnormality of the liver	171023	ASXL1	ORPHA:98849
HP:0001392	Abnormality of the liver	6427	SRSF2	ORPHA:98849
HP:0001392	Abnormality of the liver	4352	MPL	ORPHA:824
HP:0001392	Abnormality of the liver	4352	MPL	OMIM:254450
HP:0001392	Abnormality of the liver	7518	XRCC4	ORPHA:99812
HP:0001392	Abnormality of the liver	8854	ALDH1A2	OMIM:620025
HP:0001392	Abnormality of the liver	4758	NEU1	OMIM:256550
HP:0001392	Abnormality of the liver	4758	NEU1	ORPHA:93399
HP:0001392	Abnormality of the liver	4758	NEU1	ORPHA:93400
HP:0001392	Abnormality of the liver	2038	EPB42	ORPHA:822
HP:0001392	Abnormality of the liver	6521	SLC4A1	ORPHA:822
HP:0001392	Abnormality of the liver	6710	SPTB	ORPHA:822
HP:0001392	Abnormality of the liver	6708	SPTA1	ORPHA:822
HP:0001392	Abnormality of the liver	286	ANK1	ORPHA:822
HP:0001392	Abnormality of the liver	9051	PSTPIP1	OMIM:601979
HP:0001392	Abnormality of the liver	54968	TMEM70	ORPHA:1194
HP:0001392	Abnormality of the liver	6341	SCO1	OMIM:619048
HP:0001392	Abnormality of the liver	2130	EWSR1	ORPHA:83469
HP:0001392	Abnormality of the liver	6392	SDHD	OMIM:619167
HP:0001392	Abnormality of the liver	79947	DHDDS	OMIM:613861
HP:0001392	Abnormality of the liver	55788	LMBRD1	OMIM:277380
HP:0001392	Abnormality of the liver	10225	CD96	OMIM:211750
HP:0001392	Abnormality of the liver	79631	EFL1	ORPHA:811
HP:0001392	Abnormality of the liver	79631	EFL1	OMIM:617941
HP:0001392	Abnormality of the liver	7535	ZAP70	OMIM:269840
HP:0001392	Abnormality of the liver	84987	COX14	OMIM:619053
HP:0001392	Abnormality of the liver	6005	RHAG	OMIM:185000
HP:0001392	Abnormality of the liver	1738	DLD	ORPHA:2394
HP:0001392	Abnormality of the liver	1738	DLD	OMIM:246900
HP:0001392	Abnormality of the liver	4509	MT-ATP8	ORPHA:254913
HP:0001392	Abnormality of the liver	514	ATP5F1E	ORPHA:254913
HP:0001392	Abnormality of the liver	513	ATP5F1D	ORPHA:254913
HP:0001392	Abnormality of the liver	498	ATP5F1A	ORPHA:254913
HP:0001392	Abnormality of the liver	84833	ATP5MK	ORPHA:254913
HP:0001392	Abnormality of the liver	91647	ATPAF2	ORPHA:254913
HP:0001392	Abnormality of the liver	91647	ATPAF2	OMIM:604273
HP:0001392	Abnormality of the liver	5699	PSMB10	OMIM:619175
HP:0001392	Abnormality of the liver	5699	PSMB10	OMIM:620807
HP:0001392	Abnormality of the liver	92579	G6PC3	OMIM:612541
HP:0001392	Abnormality of the liver	6786	STIM1	OMIM:612783
HP:0001392	Abnormality of the liver	9927	MFN2	ORPHA:2398
HP:0001392	Abnormality of the liver	686	BTD	OMIM:253260
HP:0001392	Abnormality of the liver	8792	TNFRSF11A	OMIM:612301
HP:0001392	Abnormality of the liver	7132	TNFRSF1A	OMIM:142680
HP:0001392	Abnormality of the liver	208	AKT2	ORPHA:79085
HP:0001392	Abnormality of the liver	55858	TMEM165	OMIM:614727
HP:0001392	Abnormality of the liver	8546	AP3B1	OMIM:608233
HP:0001392	Abnormality of the liver	5313	PKLR	OMIM:266200
HP:0001392	Abnormality of the liver	56984	PSMG2	OMIM:619183
HP:0001392	Abnormality of the liver	23116	TOGARAM1	OMIM:619185
HP:0001392	Abnormality of the liver	9377	COX5A	OMIM:619064
HP:0001392	Abnormality of the liver	4591	TRIM37	OMIM:253250
HP:0001392	Abnormality of the liver	4591	TRIM37	ORPHA:2576
HP:0001392	Abnormality of the liver	23230	VPS13A	ORPHA:2388
HP:0001392	Abnormality of the liver	63894	VIPAS39	OMIM:613404
HP:0001392	Abnormality of the liver	526	ATP6V1B2	ORPHA:3473
HP:0001392	Abnormality of the liver	3782	KCNN3	ORPHA:3473
HP:0001392	Abnormality of the liver	3425	IDUA	OMIM:607014
HP:0001392	Abnormality of the liver	3425	IDUA	OMIM:607015
HP:0001392	Abnormality of the liver	3425	IDUA	ORPHA:93474
HP:0001392	Abnormality of the liver	3425	IDUA	ORPHA:93473
HP:0001392	Abnormality of the liver	3425	IDUA	ORPHA:93476
HP:0001392	Abnormality of the liver	175	AGA	ORPHA:93
HP:0001392	Abnormality of the liver	175	AGA	OMIM:208400
HP:0001392	Abnormality of the liver	374393	FAM111B	OMIM:615704
HP:0001392	Abnormality of the liver	338328	GPIHBP1	OMIM:615947
HP:0001392	Abnormality of the liver	3055	HCK	OMIM:620296
HP:0001392	Abnormality of the liver	1798	DPAGT1	ORPHA:86309
HP:0001392	Abnormality of the liver	5091	PC	OMIM:266150
HP:0001392	Abnormality of the liver	4607	MYBPC3	OMIM:115197
HP:0001392	Abnormality of the liver	51660	MPC1	OMIM:614741
HP:0001392	Abnormality of the liver	3991	LIPE	ORPHA:435660
HP:0001392	Abnormality of the liver	4519	MT-CYB	ORPHA:137675
HP:0001392	Abnormality of the liver	9719	ADAMTSL2	OMIM:231050
HP:0001392	Abnormality of the liver	5293	PIK3CD	ORPHA:397596
HP:0001392	Abnormality of the liver	5295	PIK3R1	ORPHA:397596
HP:0001392	Abnormality of the liver	2548	GAA	ORPHA:308552
HP:0001392	Abnormality of the liver	2548	GAA	OMIM:232300
HP:0001392	Abnormality of the liver	64135	IFIH1	OMIM:615846
HP:0001392	Abnormality of the liver	3662	IRF4	ORPHA:3452
HP:0001392	Abnormality of the liver	3911	LAMA5	OMIM:620076
HP:0001392	Abnormality of the liver	55343	SLC35C1	ORPHA:99843
HP:0001392	Abnormality of the liver	8314	BAP1	ORPHA:50251
HP:0001392	Abnormality of the liver	162417	NAGS	ORPHA:927
HP:0001392	Abnormality of the liver	28962	OSTM1	OMIM:259720
HP:0001392	Abnormality of the liver	10568	SLC34A2	ORPHA:60025
HP:0001392	Abnormality of the liver	51067	YARS2	OMIM:613561
HP:0001392	Abnormality of the liver	93183	PIGM	OMIM:610293
HP:0001392	Abnormality of the liver	7351	UCP2	ORPHA:276556
HP:0001392	Abnormality of the liver	56052	ALG1	OMIM:608540
HP:0001392	Abnormality of the liver	4054	LTBP3	OMIM:617809
HP:0001392	Abnormality of the liver	10159	ATP6AP2	OMIM:301045
HP:0001392	Abnormality of the liver	84529	CDIN1	OMIM:615631
HP:0001392	Abnormality of the liver	11133	KPTN	OMIM:615637
HP:0001392	Abnormality of the liver	6948	TCN2	OMIM:275350
HP:0001392	Abnormality of the liver	1776	DNASE1L3	ORPHA:36412
HP:0001392	Abnormality of the liver	9780	PIEZO1	OMIM:194380
HP:0001392	Abnormality of the liver	4173	MCM4	OMIM:609981
HP:0001392	Abnormality of the liver	411	ARSB	OMIM:253200
HP:0001392	Abnormality of the liver	55593	OTUD5	OMIM:301056
HP:0001392	Abnormality of the liver	3074	HEXB	OMIM:268800
HP:0001392	Abnormality of the liver	549	AUH	ORPHA:67046
HP:0001392	Abnormality of the liver	10525	HYOU1	OMIM:233600
HP:0001392	Abnormality of the liver	4792	NFKBIA	OMIM:612132
HP:0001392	Abnormality of the liver	6513	SLC2A1	OMIM:608885
HP:0001392	Abnormality of the liver	7547	ZIC3	OMIM:306955
HP:0001392	Abnormality of the liver	9663	LPIN2	ORPHA:77297
HP:0001392	Abnormality of the liver	6097	RORC	OMIM:616622
HP:0001392	Abnormality of the liver	26007	TKFC	OMIM:618805
HP:0001392	Abnormality of the liver	6663	SOX10	ORPHA:163746
HP:0001392	Abnormality of the liver	708	C1QBP	OMIM:617713
HP:0001392	Abnormality of the liver	3248	HPGD	ORPHA:2796
HP:0001392	Abnormality of the liver	6578	SLCO2A1	ORPHA:2796
HP:0001392	Abnormality of the liver	84061	MAGT1	OMIM:301031
HP:0001392	Abnormality of the liver	55210	ATAD3A	OMIM:618810
HP:0001392	Abnormality of the liver	326625	MMAB	OMIM:251110
HP:0001392	Abnormality of the liver	5873	RAB27A	ORPHA:79477
HP:0001392	Abnormality of the liver	760	CA2	ORPHA:2785
HP:0001392	Abnormality of the liver	2584	GALK1	ORPHA:79237
HP:0001392	Abnormality of the liver	9997	SCO2	OMIM:604377
HP:0001392	Abnormality of the liver	10367	MICU1	OMIM:615673
HP:0001392	Abnormality of the liver	3702	ITK	OMIM:613011
HP:0001392	Abnormality of the liver	11222	MRPL3	OMIM:614582
HP:0001392	Abnormality of the liver	2588	GALNS	OMIM:253000
HP:0001392	Abnormality of the liver	10019	SH2B3	OMIM:254450
HP:0001392	Abnormality of the liver	5580	PRKCD	OMIM:615559
HP:0001392	Abnormality of the liver	51520	LARS1	OMIM:615438
HP:0001392	Abnormality of the liver	2065	ERBB3	OMIM:133180
HP:0001392	Abnormality of the liver	26047	CNTNAP2	ORPHA:163681
HP:0001392	Abnormality of the liver	200894	ARL13B	OMIM:612291
HP:0001392	Abnormality of the liver	100151683	RNU4ATAC	OMIM:616651
HP:0001392	Abnormality of the liver	51816	ADA2	OMIM:615688
HP:0001392	Abnormality of the liver	28957	MRPS28	OMIM:618958
HP:0001392	Abnormality of the liver	3931	LCAT	ORPHA:79292
HP:0001392	Abnormality of the liver	100506658	OCLN	OMIM:251290
HP:0001392	Abnormality of the liver	27232	GNMT	OMIM:606664
HP:0001392	Abnormality of the liver	10577	NPC2	OMIM:607625
HP:0001392	Abnormality of the liver	139818	DOCK11	OMIM:301109
HP:0001392	Abnormality of the liver	51081	MRPS7	OMIM:617872
HP:0001392	Abnormality of the liver	26503	SLC17A5	OMIM:269920
HP:0001392	Abnormality of the liver	2990	GUSB	OMIM:253220
HP:0001392	Abnormality of the liver	4668	NAGA	ORPHA:79281
HP:0001392	Abnormality of the liver	4668	NAGA	ORPHA:79279
HP:0001392	Abnormality of the liver	2639	GCDH	OMIM:231670
HP:0001392	Abnormality of the liver	139886	SPIN4	OMIM:301114
HP:0001392	Abnormality of the liver	8737	RIPK1	OMIM:618852
HP:0001392	Abnormality of the liver	28985	MCTS1	OMIM:301115
HP:0001392	Abnormality of the liver	8625	RFXANK	OMIM:620815
HP:0001392	Abnormality of the liver	3636	INPPL1	ORPHA:2746
HP:0001392	Abnormality of the liver	1794	DOCK2	OMIM:616433
HP:0001392	Abnormality of the liver	2110	ETFDH	OMIM:231680
HP:0001392	Abnormality of the liver	2108	ETFA	OMIM:231680
HP:0001392	Abnormality of the liver	2109	ETFB	OMIM:231680
HP:0001392	Abnormality of the liver	5052	PRDX1	OMIM:277400
HP:0001392	Abnormality of the liver	25974	MMACHC	OMIM:277400
HP:0001392	Abnormality of the liver	3033	HADH	OMIM:231530
HP:0001392	Abnormality of the liver	3033	HADH	ORPHA:71212
HP:0001392	Abnormality of the liver	105371045	PERCC1	ORPHA:92050
HP:0001392	Abnormality of the liver	50674	NEUROG3	ORPHA:83620
HP:0001392	Abnormality of the liver	10908	PNPLA6	ORPHA:2377
HP:0001392	Abnormality of the liver	9657	IQCB1	ORPHA:3156
HP:0001392	Abnormality of the liver	27130	INVS	ORPHA:3156
HP:0001392	Abnormality of the liver	261734	NPHP4	ORPHA:3156
HP:0001392	Abnormality of the liver	22897	CEP164	ORPHA:3156
HP:0001392	Abnormality of the liver	2239	GPC4	ORPHA:373
HP:0001392	Abnormality of the liver	2239	GPC4	OMIM:312870
HP:0001392	Abnormality of the liver	1028	CDKN1C	OMIM:130650
HP:0001392	Abnormality of the liver	3784	KCNQ1	OMIM:130650
HP:0001392	Abnormality of the liver	10984	KCNQ1OT1	OMIM:130650
HP:0001392	Abnormality of the liver	6597	SMARCA4	ORPHA:1465
HP:0001392	Abnormality of the liver	6598	SMARCB1	ORPHA:1465
HP:0001392	Abnormality of the liver	6659	SOX4	ORPHA:1465
HP:0001392	Abnormality of the liver	8289	ARID1A	ORPHA:1465
HP:0001392	Abnormality of the liver	5977	DPF2	ORPHA:1465
HP:0001392	Abnormality of the liver	6601	SMARCC2	ORPHA:1465
HP:0001392	Abnormality of the liver	6602	SMARCD1	ORPHA:1465
HP:0001392	Abnormality of the liver	57492	ARID1B	ORPHA:1465
HP:0001392	Abnormality of the liver	196528	ARID2	ORPHA:1465
HP:0001392	Abnormality of the liver	6605	SMARCE1	ORPHA:1465
HP:0001392	Abnormality of the liver	6664	SOX11	ORPHA:1465
HP:0001392	Abnormality of the liver	26040	SETBP1	OMIM:269150
HP:0001392	Abnormality of the liver	26040	SETBP1	ORPHA:798
HP:0001392	Abnormality of the liver	388015	RTL1	ORPHA:96334
HP:0001392	Abnormality of the liver	8788	DLK1	ORPHA:96334
HP:0001392	Abnormality of the liver	55384	MEG3	ORPHA:96334
HP:0001392	Abnormality of the liver	199221	DZIP1L	ORPHA:731
HP:0001392	Abnormality of the liver	5314	PKHD1	ORPHA:731
HP:0001392	Abnormality of the liver	4072	EPCAM	ORPHA:144
HP:0001392	Abnormality of the liver	4292	MLH1	ORPHA:144
HP:0001392	Abnormality of the liver	5395	PMS2	ORPHA:144
HP:0001392	Abnormality of the liver	7048	TGFBR2	ORPHA:144
HP:0001392	Abnormality of the liver	3845	KRAS	ORPHA:144
HP:0001392	Abnormality of the liver	3845	KRAS	ORPHA:1333
HP:0001392	Abnormality of the liver	5290	PIK3CA	ORPHA:144
HP:0001392	Abnormality of the liver	2956	MSH6	ORPHA:144
HP:0001392	Abnormality of the liver	5378	PMS1	ORPHA:144
HP:0001392	Abnormality of the liver	4436	MSH2	ORPHA:144
HP:0001392	Abnormality of the liver	6609	SMPD1	ORPHA:77293
HP:0001392	Abnormality of the liver	5244	ABCB4	ORPHA:69663
HP:0001392	Abnormality of the liver	65998	ZFTA	ORPHA:251636
HP:0001392	Abnormality of the liver	4665	NAB2	ORPHA:2126
HP:0001392	Abnormality of the liver	6778	STAT6	ORPHA:2126
HP:0001392	Abnormality of the liver	56623	INPP5E	ORPHA:1454
HP:0001392	Abnormality of the liver	23322	RPGRIP1L	ORPHA:1454
HP:0001392	Abnormality of the liver	57545	CC2D2A	ORPHA:1454
HP:0001392	Abnormality of the liver	285282	RABL3	ORPHA:1333
HP:0001392	Abnormality of the liver	7157	TP53	ORPHA:1333
HP:0001392	Abnormality of the liver	1029	CDKN2A	ORPHA:1333
HP:0001392	Abnormality of the liver	4089	SMAD4	ORPHA:1333
HP:0001392	Abnormality of the liver	23022	PALLD	ORPHA:1333
HP:0001392	Abnormality of the liver	5978	REST	ORPHA:654
HP:0001392	Abnormality of the liver	129563	DIS3L2	ORPHA:654
HP:0001392	Abnormality of the liver	9319	TRIP13	ORPHA:654
HP:0001392	Abnormality of the liver	7490	WT1	ORPHA:654
HP:0001392	Abnormality of the liver	10155	TRIM28	ORPHA:654
HP:0001392	Abnormality of the liver	11281	POU6F2	ORPHA:654
HP:0001392	Abnormality of the liver	2719	GPC3	ORPHA:654
HP:0001392	Abnormality of the liver	283120	H19	ORPHA:654
HP:0001392	Abnormality of the liver	9401	RECQL4	OMIM:218600
HP:0001392	Abnormality of the liver	9361	LONP1	ORPHA:1458
HP:0001392	Abnormality of the liver	1717	DHCR7	ORPHA:818
HP:0001392	Abnormality of the liver	54872	PIGG	ORPHA:280
HP:0001392	Abnormality of the liver	7469	NELFA	ORPHA:280
HP:0001392	Abnormality of the liver	2517	FUCA1	ORPHA:349
HP:0001392	Abnormality of the liver	3239	HOXD13	ORPHA:887
HP:0001392	Abnormality of the liver	2627	GATA6	OMIM:600001
HP:0001392	Abnormality of the liver	2627	GATA6	ORPHA:2255
HP:0001392	Abnormality of the liver	5167	ENPP1	ORPHA:51608
HP:0001392	Abnormality of the liver	368	ABCC6	ORPHA:51608
HP:0001392	Abnormality of the liver	84936	ZFYVE19	OMIM:619849
HP:0001392	Abnormality of the liver	54903	MKS1	OMIM:249000
HP:0001392	Abnormality of the liver	55764	IFT122	OMIM:218330
HP:0001392	Abnormality of the liver	80776	B9D2	OMIM:614175
HP:0001392	Abnormality of the liver	56922	MCCC1	OMIM:210200
HP:0001392	Abnormality of the liver	889	KRIT1	OMIM:116860
HP:0001392	Abnormality of the liver	10664	CTCF	ORPHA:363611
HP:0001392	Abnormality of the liver	23446	SLC44A1	OMIM:618868
HP:0001392	Abnormality of the liver	5626	PROP1	ORPHA:226307
HP:0001392	Abnormality of the liver	89884	LHX4	ORPHA:226307
HP:0001392	Abnormality of the liver	8022	LHX3	ORPHA:226307
HP:0001392	Abnormality of the liver	8820	HESX1	ORPHA:226307
HP:0001392	Abnormality of the liver	1593	CYP27A1	ORPHA:909
HP:0001392	Abnormality of the liver	8405	SPOP	OMIM:618828
HP:0001392	Abnormality of the liver	8085	KMT2D	OMIM:620186
HP:0001392	Abnormality of the liver	64324	NSD1	ORPHA:821
HP:0001392	Abnormality of the liver	64324	NSD1	OMIM:117550
HP:0001392	Abnormality of the liver	10297	APC2	ORPHA:821
HP:0001392	Abnormality of the liver	5631	PRPS1	ORPHA:423479
HP:0001392	Abnormality of the liver	50506	DUOX2	ORPHA:226316
HP:0001392	Abnormality of the liver	50506	DUOX2	ORPHA:95716
HP:0001392	Abnormality of the liver	55904	KMT2E	OMIM:618512
HP:0001392	Abnormality of the liver	25973	PARS2	OMIM:618437
HP:0001392	Abnormality of the liver	7252	TSHB	ORPHA:90674
HP:0001392	Abnormality of the liver	6554	SLC10A1	OMIM:619256
HP:0001392	Abnormality of the liver	405753	DUOXA2	ORPHA:95716
HP:0001392	Abnormality of the liver	6528	SLC5A5	ORPHA:95716
HP:0001392	Abnormality of the liver	7038	TG	ORPHA:95716
HP:0001392	Abnormality of the liver	7173	TPO	ORPHA:95716
HP:0001392	Abnormality of the liver	389434	IYD	ORPHA:95716
HP:0001392	Abnormality of the liver	7080	NKX2-1	ORPHA:95713
HP:0001392	Abnormality of the liver	2304	FOXE1	ORPHA:95713
HP:0001392	Abnormality of the liver	7201	TRHR	ORPHA:99832
HP:0001392	Abnormality of the liver	6567	SLC16A2	ORPHA:59
HP:0001392	Abnormality of the liver	2688	GH1	OMIM:262400
HP:0001392	Abnormality of the liver	5825	ABCD3	OMIM:616278
HP:0001392	Abnormality of the liver	4645	MYO5B	OMIM:619868
HP:0001392	Abnormality of the liver	84314	TMEM107	ORPHA:564
HP:0001392	Abnormality of the liver	26123	TCTN3	ORPHA:564
HP:0001392	Abnormality of the liver	79867	TCTN2	ORPHA:564
HP:0001392	Abnormality of the liver	79600	TCTN1	ORPHA:564
HP:0001392	Abnormality of the liver	57096	RPGRIP1	ORPHA:564
HP:0001392	Abnormality of the liver	79848	CSPP1	ORPHA:564
HP:0001392	Abnormality of the liver	51259	TMEM216	ORPHA:564
HP:0001392	Abnormality of the liver	79583	TMEM231	ORPHA:564
HP:0001392	Abnormality of the liver	27077	B9D1	ORPHA:564
HP:0001392	Abnormality of the liver	65062	TMEM237	ORPHA:564
HP:0001392	Abnormality of the liver	2321	FLT1	ORPHA:275555
HP:0001392	Abnormality of the liver	219736	STOX1	ORPHA:275555
HP:0001392	Abnormality of the liver	10699	CORIN	ORPHA:275555
HP:0001392	Abnormality of the liver	2294	FOXF1	ORPHA:210122
HP:0001392	Abnormality of the liver	23019	CNOT1	ORPHA:556955
HP:0001392	Abnormality of the liver	23019	CNOT1	OMIM:618500
HP:0001392	Abnormality of the liver	6651	SON	OMIM:617140
HP:0001392	Abnormality of the liver	6651	SON	ORPHA:500150
HP:0001392	Abnormality of the liver	27152	INTU	OMIM:617925
HP:0001392	Abnormality of the liver	25913	POT1	OMIM:620367
HP:0001392	Abnormality of the liver	3081	HGD	ORPHA:56
HP:0001392	Abnormality of the liver	3767	KCNJ11	ORPHA:552
HP:0001392	Abnormality of the liver	8462	KLF11	ORPHA:552
HP:0001392	Abnormality of the liver	2645	GCK	ORPHA:552
HP:0001392	Abnormality of the liver	26060	APPL1	ORPHA:552
HP:0001392	Abnormality of the liver	640	BLK	ORPHA:552
HP:0001392	Abnormality of the liver	1056	CEL	ORPHA:552
HP:0001392	Abnormality of the liver	4760	NEUROD1	ORPHA:552
HP:0001392	Abnormality of the liver	3651	PDX1	ORPHA:552
HP:0001392	Abnormality of the liver	6833	ABCC8	ORPHA:552
HP:0001392	Abnormality of the liver	5078	PAX4	ORPHA:552
HP:0001392	Abnormality of the liver	3172	HNF4A	ORPHA:552
HP:0001392	Abnormality of the liver	6927	HNF1A	ORPHA:552
HP:0001392	Abnormality of the liver	6927	HNF1A	OMIM:142330
HP:0001392	Abnormality of the liver	3630	INS	ORPHA:552
HP:0001392	Abnormality of the liver	2778	GNAS	ORPHA:562
HP:0001392	Abnormality of the liver	7543	ZFX	OMIM:301118
HP:0001392	Abnormality of the liver	5256	PHKA2	ORPHA:264580
HP:0001392	Abnormality of the liver	5261	PHKG2	ORPHA:264580
HP:0001392	Abnormality of the liver	50943	FOXP3	OMIM:304790
HP:0001392	Abnormality of the liver	50943	FOXP3	ORPHA:37042
HP:0001392	Abnormality of the liver	7174	TPP2	ORPHA:444463
HP:0001392	Abnormality of the liver	716	C1S	OMIM:613783
HP:0001392	Abnormality of the liver	915	CD3D	ORPHA:169160
HP:0001392	Abnormality of the liver	916	CD3E	ORPHA:169160
HP:0001392	Abnormality of the liver	919	CD247	ORPHA:169160
HP:0001392	Abnormality of the liver	5297	PI4KA	ORPHA:436252
HP:0001392	Abnormality of the liver	57217	TTC7A	ORPHA:436252
HP:0001392	Abnormality of the liver	6850	SYK	OMIM:619381
HP:0001392	Abnormality of the liver	84818	IL17RC	ORPHA:1334
HP:0001392	Abnormality of the liver	64581	CLEC7A	ORPHA:1334
HP:0001392	Abnormality of the liver	23765	IL17RA	ORPHA:1334
HP:0001392	Abnormality of the liver	10758	TRAF3IP2	ORPHA:1334
HP:0001392	Abnormality of the liver	112744	IL17F	ORPHA:1334
HP:0001392	Abnormality of the liver	54	ACP5	ORPHA:1855
HP:0001392	Abnormality of the liver	6929	TCF3	ORPHA:33110
HP:0001392	Abnormality of the liver	7922	SLC39A7	ORPHA:33110
HP:0001392	Abnormality of the liver	973	CD79A	ORPHA:33110
HP:0001392	Abnormality of the liver	974	CD79B	ORPHA:33110
HP:0001392	Abnormality of the liver	6688	SPI1	ORPHA:33110
HP:0001392	Abnormality of the liver	3543	IGLL1	ORPHA:33110
HP:0001392	Abnormality of the liver	3507	IGHM	ORPHA:33110
HP:0001392	Abnormality of the liver	29760	BLNK	ORPHA:33110
HP:0001392	Abnormality of the liver	56262	LRRC8A	ORPHA:33110
HP:0001392	Abnormality of the liver	4069	LYZ	OMIM:620658
HP:0001392	Abnormality of the liver	567	B2M	OMIM:620659
HP:0001392	Abnormality of the liver	567	B2M	ORPHA:314652
HP:0001392	Abnormality of the liver	1027	CDKN1B	ORPHA:276152
HP:0001392	Abnormality of the liver	2642	GCGR	ORPHA:438274
HP:0001392	Abnormality of the liver	2512	FTL	ORPHA:254704
HP:0001392	Abnormality of the liver	4891	SLC11A2	OMIM:206100
HP:0001392	Abnormality of the liver	2495	FTH1	OMIM:615517
HP:0001392	Abnormality of the liver	10667	FARS2	OMIM:614946
HP:0001392	Abnormality of the liver	26525	IL36RN	OMIM:614204
HP:0001392	Abnormality of the liver	462	SERPINC1	ORPHA:82
HP:0001392	Abnormality of the liver	81704	DOCK8	OMIM:243700
HP:0001392	Abnormality of the liver	5130	PCYT1A	OMIM:608940
HP:0001392	Abnormality of the liver	2033	EP300	OMIM:180849
HP:0001392	Abnormality of the liver	1387	CREBBP	OMIM:180849
HP:0001392	Abnormality of the liver	595	CCND1	OMIM:193300
HP:0001392	Abnormality of the liver	7428	VHL	OMIM:193300
HP:0001392	Abnormality of the liver	7840	ALMS1	ORPHA:64
HP:0001392	Abnormality of the liver	84342	COG8	OMIM:611182
HP:0001392	Abnormality of the liver	8772	FADD	OMIM:613759
HP:0001392	Abnormality of the liver	54914	FOCAD	OMIM:619991
HP:0001392	Abnormality of the liver	93	ACVR2B	OMIM:613751
HP:0001392	Abnormality of the liver	90952	ESAM	OMIM:620371
HP:0001392	Abnormality of the liver	51135	IRAK4	OMIM:607676
HP:0001392	Abnormality of the liver	3514	IGKC	ORPHA:183675
HP:0001392	Abnormality of the liver	3501	IGHG2	ORPHA:183675
HP:0001392	Abnormality of the liver	1075	CTSC	ORPHA:678
HP:0001392	Abnormality of the liver	54894	RNF43	ORPHA:157798
HP:0001392	Abnormality of the liver	410	ARSA	ORPHA:309271
HP:0001392	Abnormality of the liver	168667	BMPER	OMIM:608022
HP:0001392	Abnormality of the liver	11198	SUPT16H	OMIM:619480
HP:0001392	Abnormality of the liver	8239	USP9X	ORPHA:480880
HP:0001392	Abnormality of the liver	721	C4B	OMIM:614379
HP:0001392	Abnormality of the liver	8456	FOXN1	ORPHA:83471
HP:0001392	Abnormality of the liver	5993	RFX5	ORPHA:572
HP:0001392	Abnormality of the liver	745	MYRF	OMIM:618280
HP:0002240	Hepatomegaly	861	RUNX1	ORPHA:98850
HP:0002240	Hepatomegaly	3071	NCKAP1L	OMIM:618982
HP:0002240	Hepatomegaly	2632	GBE1	OMIM:232500
HP:0002240	Hepatomegaly	55823	VPS11	ORPHA:466934
HP:0002240	Hepatomegaly	5880	RAC2	OMIM:618986
HP:0002240	Hepatomegaly	4023	LPL	OMIM:238600
HP:0002240	Hepatomegaly	6775	STAT4	ORPHA:85408
HP:0002240	Hepatomegaly	79722	ANKRD55	ORPHA:85408
HP:0002240	Hepatomegaly	26191	PTPN22	ORPHA:85408
HP:0002240	Hepatomegaly	919	CD247	ORPHA:85408
HP:0002240	Hepatomegaly	919	CD247	ORPHA:169160
HP:0002240	Hepatomegaly	3559	IL2RA	ORPHA:85408
HP:0002240	Hepatomegaly	3559	IL2RA	OMIM:606367
HP:0002240	Hepatomegaly	5771	PTPN2	ORPHA:85408
HP:0002240	Hepatomegaly	3459	IFNGR1	OMIM:209950
HP:0002240	Hepatomegaly	3716	JAK1	OMIM:618999
HP:0002240	Hepatomegaly	2122	MECOM	OMIM:616738
HP:0002240	Hepatomegaly	5476	CTSA	OMIM:256540
HP:0002240	Hepatomegaly	9382	COG1	ORPHA:263508
HP:0002240	Hepatomegaly	5251	PHEX	OMIM:307800
HP:0002240	Hepatomegaly	915	CD3D	ORPHA:169160
HP:0002240	Hepatomegaly	916	CD3E	ORPHA:169160
HP:0002240	Hepatomegaly	1777	DNASE2	OMIM:619858
HP:0002240	Hepatomegaly	3376	IARS1	ORPHA:541423
HP:0002240	Hepatomegaly	26154	ABCA12	OMIM:601277
HP:0002240	Hepatomegaly	7289	TULP3	OMIM:619902
HP:0002240	Hepatomegaly	672	BRCA1	ORPHA:1333
HP:0002240	Hepatomegaly	285282	RABL3	ORPHA:1333
HP:0002240	Hepatomegaly	7157	TP53	ORPHA:1333
HP:0002240	Hepatomegaly	675	BRCA2	ORPHA:1333
HP:0002240	Hepatomegaly	1029	CDKN2A	ORPHA:1333
HP:0002240	Hepatomegaly	79728	PALB2	ORPHA:1333
HP:0002240	Hepatomegaly	4089	SMAD4	ORPHA:1333
HP:0002240	Hepatomegaly	23022	PALLD	ORPHA:1333
HP:0002240	Hepatomegaly	10125	RASGRP1	OMIM:618534
HP:0002240	Hepatomegaly	2783	GNB2	OMIM:619503
HP:0002240	Hepatomegaly	970	CD70	OMIM:618261
HP:0002240	Hepatomegaly	3572	IL6ST	OMIM:619750
HP:0002240	Hepatomegaly	6774	STAT3	OMIM:615952
HP:0002240	Hepatomegaly	199221	DZIP1L	OMIM:617610
HP:0002240	Hepatomegaly	199221	DZIP1L	ORPHA:731
HP:0002240	Hepatomegaly	8517	IKBKG	OMIM:301081
HP:0002240	Hepatomegaly	2263	FGFR2	OMIM:614592
HP:0002240	Hepatomegaly	2263	FGFR2	ORPHA:313855
HP:0002240	Hepatomegaly	5788	PTPRC	OMIM:619924
HP:0002240	Hepatomegaly	9371	KIF3B	OMIM:618955
HP:0002240	Hepatomegaly	5294	PIK3CG	OMIM:619802
HP:0002240	Hepatomegaly	2729	GCLC	ORPHA:33574
HP:0002240	Hepatomegaly	3718	JAK3	ORPHA:35078
HP:0002240	Hepatomegaly	84868	HAVCR2	ORPHA:86884
HP:0002240	Hepatomegaly	2193	FARSA	OMIM:619013
HP:0002240	Hepatomegaly	3458	IFNG	OMIM:618963
HP:0002240	Hepatomegaly	9939	RBM8A	OMIM:274000
HP:0002240	Hepatomegaly	84153	RNASEH2C	OMIM:610329
HP:0002240	Hepatomegaly	84153	RNASEH2C	ORPHA:51
HP:0002240	Hepatomegaly	1513	CTSK	ORPHA:763
HP:0002240	Hepatomegaly	25939	SAMHD1	ORPHA:51
HP:0002240	Hepatomegaly	79621	RNASEH2B	ORPHA:51
HP:0002240	Hepatomegaly	134353	LSM11	ORPHA:51
HP:0002240	Hepatomegaly	6006	RHCE	ORPHA:71275
HP:0002240	Hepatomegaly	1374	CPT1A	ORPHA:156
HP:0002240	Hepatomegaly	1374	CPT1A	OMIM:255120
HP:0002240	Hepatomegaly	2137	EXTL3	ORPHA:508533
HP:0002240	Hepatomegaly	3561	IL2RG	ORPHA:276
HP:0002240	Hepatomegaly	3561	IL2RG	OMIM:300400
HP:0002240	Hepatomegaly	3561	IL2RG	ORPHA:39041
HP:0002240	Hepatomegaly	6584	SLC22A5	ORPHA:158
HP:0002240	Hepatomegaly	6584	SLC22A5	OMIM:212140
HP:0002240	Hepatomegaly	1497	CTNS	OMIM:219800
HP:0002240	Hepatomegaly	875	CBS	ORPHA:394
HP:0002240	Hepatomegaly	54539	NDUFB11	ORPHA:2609
HP:0002240	Hepatomegaly	25915	NDUFAF3	ORPHA:2609
HP:0002240	Hepatomegaly	51103	NDUFAF1	ORPHA:2609
HP:0002240	Hepatomegaly	51103	NDUFAF1	OMIM:618234
HP:0002240	Hepatomegaly	91942	NDUFAF2	ORPHA:2609
HP:0002240	Hepatomegaly	51300	TIMMDC1	ORPHA:2609
HP:0002240	Hepatomegaly	4716	NDUFB10	ORPHA:2609
HP:0002240	Hepatomegaly	4723	NDUFV1	ORPHA:2609
HP:0002240	Hepatomegaly	55572	FOXRED1	ORPHA:2609
HP:0002240	Hepatomegaly	284184	NDUFAF8	ORPHA:2609
HP:0002240	Hepatomegaly	55863	TMEM126B	ORPHA:2609
HP:0002240	Hepatomegaly	4535	MT-ND1	ORPHA:2609
HP:0002240	Hepatomegaly	4535	MT-ND1	ORPHA:255210
HP:0002240	Hepatomegaly	4537	MT-ND3	ORPHA:2609
HP:0002240	Hepatomegaly	4537	MT-ND3	ORPHA:255210
HP:0002240	Hepatomegaly	4729	NDUFV2	ORPHA:2609
HP:0002240	Hepatomegaly	4694	NDUFA1	ORPHA:2609
HP:0002240	Hepatomegaly	4720	NDUFS2	ORPHA:2609
HP:0002240	Hepatomegaly	4724	NDUFS4	ORPHA:2609
HP:0002240	Hepatomegaly	4724	NDUFS4	OMIM:252010
HP:0002240	Hepatomegaly	4726	NDUFS6	ORPHA:2609
HP:0002240	Hepatomegaly	4728	NDUFS8	ORPHA:2609
HP:0002240	Hepatomegaly	4722	NDUFS3	ORPHA:2609
HP:0002240	Hepatomegaly	79133	NDUFAF5	ORPHA:2609
HP:0002240	Hepatomegaly	126328	NDUFA11	ORPHA:2609
HP:0002240	Hepatomegaly	4709	NDUFB3	ORPHA:2609
HP:0002240	Hepatomegaly	80224	NUBPL	ORPHA:2609
HP:0002240	Hepatomegaly	29078	NDUFAF4	ORPHA:2609
HP:0002240	Hepatomegaly	374291	NDUFS7	ORPHA:2609
HP:0002240	Hepatomegaly	374291	NDUFS7	OMIM:618224
HP:0002240	Hepatomegaly	4700	NDUFA6	ORPHA:2609
HP:0002240	Hepatomegaly	4536	MT-ND2	ORPHA:2609
HP:0002240	Hepatomegaly	4536	MT-ND2	ORPHA:255210
HP:0002240	Hepatomegaly	4719	NDUFS1	ORPHA:2609
HP:0002240	Hepatomegaly	4719	NDUFS1	OMIM:618226
HP:0002240	Hepatomegaly	4715	NDUFB9	ORPHA:2609
HP:0002240	Hepatomegaly	26235	FBXL4	OMIM:615471
HP:0002240	Hepatomegaly	229	ALDOB	OMIM:229600
HP:0002240	Hepatomegaly	229	ALDOB	ORPHA:469
HP:0002240	Hepatomegaly	57128	LYRM4	OMIM:615595
HP:0002240	Hepatomegaly	5728	PTEN	OMIM:605309
HP:0002240	Hepatomegaly	5728	PTEN	ORPHA:397596
HP:0002240	Hepatomegaly	1493	CTLA4	ORPHA:436159
HP:0002240	Hepatomegaly	1493	CTLA4	OMIM:616100
HP:0002240	Hepatomegaly	1493	CTLA4	ORPHA:3162
HP:0002240	Hepatomegaly	1493	CTLA4	ORPHA:2584
HP:0002240	Hepatomegaly	5994	RFXAP	OMIM:620817
HP:0002240	Hepatomegaly	3783	KCNN4	OMIM:616689
HP:0002240	Hepatomegaly	3145	HMBS	OMIM:620704
HP:0002240	Hepatomegaly	1161	ERCC8	ORPHA:90324
HP:0002240	Hepatomegaly	1161	ERCC8	ORPHA:90321
HP:0002240	Hepatomegaly	1161	ERCC8	ORPHA:90322
HP:0002240	Hepatomegaly	1161	ERCC8	OMIM:216400
HP:0002240	Hepatomegaly	2074	ERCC6	ORPHA:90324
HP:0002240	Hepatomegaly	2074	ERCC6	ORPHA:90321
HP:0002240	Hepatomegaly	2074	ERCC6	ORPHA:90322
HP:0002240	Hepatomegaly	2074	ERCC6	OMIM:133540
HP:0002240	Hepatomegaly	55240	STEAP3	OMIM:615234
HP:0002240	Hepatomegaly	60684	TRAPPC11	OMIM:615356
HP:0002240	Hepatomegaly	60684	TRAPPC11	ORPHA:369840
HP:0002240	Hepatomegaly	19	ABCA1	OMIM:205400
HP:0002240	Hepatomegaly	63924	CIDEC	OMIM:615238
HP:0002240	Hepatomegaly	63924	CIDEC	ORPHA:435651
HP:0002240	Hepatomegaly	2720	GLB1	OMIM:230600
HP:0002240	Hepatomegaly	2720	GLB1	OMIM:230650
HP:0002240	Hepatomegaly	2720	GLB1	OMIM:230500
HP:0002240	Hepatomegaly	2720	GLB1	OMIM:253010
HP:0002240	Hepatomegaly	84334	COA8	ORPHA:436271
HP:0002240	Hepatomegaly	148738	HJV	OMIM:602390
HP:0002240	Hepatomegaly	5830	PEX5	OMIM:214110
HP:0002240	Hepatomegaly	5830	PEX5	ORPHA:772
HP:0002240	Hepatomegaly	5830	PEX5	ORPHA:912
HP:0002240	Hepatomegaly	51	ACOX1	ORPHA:2971
HP:0002240	Hepatomegaly	51	ACOX1	OMIM:264470
HP:0002240	Hepatomegaly	80270	HSD3B7	ORPHA:79301
HP:0002240	Hepatomegaly	80270	HSD3B7	OMIM:607765
HP:0002240	Hepatomegaly	5314	PKHD1	ORPHA:53035
HP:0002240	Hepatomegaly	5314	PKHD1	OMIM:263200
HP:0002240	Hepatomegaly	2072	ERCC4	ORPHA:90321
HP:0002240	Hepatomegaly	51099	ABHD5	OMIM:275630
HP:0002240	Hepatomegaly	51099	ABHD5	ORPHA:98907
HP:0002240	Hepatomegaly	6718	AKR1D1	ORPHA:79303
HP:0002240	Hepatomegaly	6718	AKR1D1	OMIM:235555
HP:0002240	Hepatomegaly	2067	ERCC1	ORPHA:90322
HP:0002240	Hepatomegaly	5604	MAP2K1	ORPHA:389
HP:0002240	Hepatomegaly	4893	NRAS	ORPHA:389
HP:0002240	Hepatomegaly	4893	NRAS	ORPHA:648
HP:0002240	Hepatomegaly	4893	NRAS	OMIM:614470
HP:0002240	Hepatomegaly	673	BRAF	ORPHA:389
HP:0002240	Hepatomegaly	4538	MT-ND4	ORPHA:255210
HP:0002240	Hepatomegaly	4567	MT-TL1	ORPHA:255210
HP:0002240	Hepatomegaly	4578	MT-TW	ORPHA:255210
HP:0002240	Hepatomegaly	4577	MT-TV	ORPHA:255210
HP:0002240	Hepatomegaly	4508	MT-ATP6	ORPHA:255210
HP:0002240	Hepatomegaly	4508	MT-ATP6	ORPHA:254913
HP:0002240	Hepatomegaly	4540	MT-ND5	ORPHA:255210
HP:0002240	Hepatomegaly	4541	MT-ND6	ORPHA:255210
HP:0002240	Hepatomegaly	4566	MT-TK	ORPHA:255210
HP:0002240	Hepatomegaly	4233	MET	ORPHA:33402
HP:0002240	Hepatomegaly	1499	CTNNB1	ORPHA:33402
HP:0002240	Hepatomegaly	197131	UBR1	OMIM:243800
HP:0002240	Hepatomegaly	4210	MEFV	OMIM:249100
HP:0002240	Hepatomegaly	939	CD27	OMIM:615122
HP:0002240	Hepatomegaly	4141	MARS1	OMIM:615486
HP:0002240	Hepatomegaly	3162	HMOX1	OMIM:614034
HP:0002240	Hepatomegaly	1855	DVL1	OMIM:616331
HP:0002240	Hepatomegaly	5184	PEPD	OMIM:170100
HP:0002240	Hepatomegaly	5184	PEPD	ORPHA:742
HP:0002240	Hepatomegaly	65082	VPS33A	OMIM:617303
HP:0002240	Hepatomegaly	84936	ZFYVE19	OMIM:619849
HP:0002240	Hepatomegaly	129563	DIS3L2	ORPHA:2849
HP:0002240	Hepatomegaly	4000	LMNA	OMIM:248370
HP:0002240	Hepatomegaly	4000	LMNA	ORPHA:280365
HP:0002240	Hepatomegaly	4000	LMNA	ORPHA:79084
HP:0002240	Hepatomegaly	4000	LMNA	ORPHA:2348
HP:0002240	Hepatomegaly	4000	LMNA	OMIM:151660
HP:0002240	Hepatomegaly	51473	DCDC2	OMIM:616217
HP:0002240	Hepatomegaly	51473	DCDC2	OMIM:617394
HP:0002240	Hepatomegaly	55768	NGLY1	ORPHA:404454
HP:0002240	Hepatomegaly	55768	NGLY1	OMIM:615273
HP:0002240	Hepatomegaly	79158	GNPTAB	OMIM:252500
HP:0002240	Hepatomegaly	79158	GNPTAB	OMIM:252600
HP:0002240	Hepatomegaly	7086	TKT	ORPHA:488618
HP:0002240	Hepatomegaly	1536	CYBB	ORPHA:379
HP:0002240	Hepatomegaly	1536	CYBB	OMIM:306400
HP:0002240	Hepatomegaly	4688	NCF2	ORPHA:379
HP:0002240	Hepatomegaly	4688	NCF2	OMIM:233710
HP:0002240	Hepatomegaly	1535	CYBA	ORPHA:379
HP:0002240	Hepatomegaly	1535	CYBA	OMIM:233690
HP:0002240	Hepatomegaly	4689	NCF4	ORPHA:379
HP:0002240	Hepatomegaly	653361	NCF1	ORPHA:379
HP:0002240	Hepatomegaly	653361	NCF1	OMIM:233700
HP:0002240	Hepatomegaly	79415	CYBC1	ORPHA:379
HP:0002240	Hepatomegaly	5189	PEX1	OMIM:214100
HP:0002240	Hepatomegaly	5189	PEX1	OMIM:601539
HP:0002240	Hepatomegaly	5189	PEX1	ORPHA:772
HP:0002240	Hepatomegaly	5189	PEX1	ORPHA:912
HP:0002240	Hepatomegaly	1080	CFTR	OMIM:219700
HP:0002240	Hepatomegaly	2212	FCGR2A	OMIM:219700
HP:0002240	Hepatomegaly	7040	TGFB1	OMIM:219700
HP:0002240	Hepatomegaly	7040	TGFB1	ORPHA:1328
HP:0002240	Hepatomegaly	6023	RMRP	ORPHA:175
HP:0002240	Hepatomegaly	6023	RMRP	ORPHA:39041
HP:0002240	Hepatomegaly	55687	TRMU	OMIM:613070
HP:0002240	Hepatomegaly	55687	TRMU	ORPHA:254864
HP:0002240	Hepatomegaly	6772	STAT1	OMIM:614162
HP:0002240	Hepatomegaly	115650	TNFRSF13C	OMIM:240500
HP:0002240	Hepatomegaly	29851	ICOS	OMIM:240500
HP:0002240	Hepatomegaly	29851	ICOS	OMIM:607594
HP:0002240	Hepatomegaly	930	CD19	OMIM:240500
HP:0002240	Hepatomegaly	23495	TNFRSF13B	OMIM:240500
HP:0002240	Hepatomegaly	1380	CR2	OMIM:240500
HP:0002240	Hepatomegaly	60561	RINT1	OMIM:618641
HP:0002240	Hepatomegaly	2859	GPR35	ORPHA:171
HP:0002240	Hepatomegaly	10507	SEMA4D	ORPHA:171
HP:0002240	Hepatomegaly	4485	MST1	ORPHA:171
HP:0002240	Hepatomegaly	6925	TCF4	ORPHA:171
HP:0002240	Hepatomegaly	5105	PCK1	OMIM:261680
HP:0002240	Hepatomegaly	103	ADAR	OMIM:615010
HP:0002240	Hepatomegaly	130589	GALM	OMIM:618881
HP:0002240	Hepatomegaly	130589	GALM	ORPHA:570422
HP:0002240	Hepatomegaly	91869	RFT1	ORPHA:244310
HP:0002240	Hepatomegaly	91869	RFT1	OMIM:612015
HP:0002240	Hepatomegaly	11232	POLG2	OMIM:618528
HP:0002240	Hepatomegaly	6573	SLC19A1	OMIM:620603
HP:0002240	Hepatomegaly	5155	PDGFB	ORPHA:1980
HP:0002240	Hepatomegaly	9213	XPR1	ORPHA:1980
HP:0002240	Hepatomegaly	5159	PDGFRB	ORPHA:1980
HP:0002240	Hepatomegaly	57462	MYORG	ORPHA:1980
HP:0002240	Hepatomegaly	6575	SLC20A2	ORPHA:1980
HP:0002240	Hepatomegaly	58494	JAM2	ORPHA:1980
HP:0002240	Hepatomegaly	55109	AGGF1	ORPHA:90308
HP:0002240	Hepatomegaly	5290	PIK3CA	ORPHA:90308
HP:0002240	Hepatomegaly	1716	DGUOK	OMIM:251880
HP:0002240	Hepatomegaly	1716	DGUOK	OMIM:617068
HP:0002240	Hepatomegaly	5424	POLD1	OMIM:615381
HP:0002240	Hepatomegaly	57231	SNX14	OMIM:616354
HP:0002240	Hepatomegaly	28755	TRAC	OMIM:615387
HP:0002240	Hepatomegaly	1371	CPOX	OMIM:618892
HP:0002240	Hepatomegaly	1371	CPOX	OMIM:121300
HP:0002240	Hepatomegaly	388962	BOLA3	OMIM:614299
HP:0002240	Hepatomegaly	4645	MYO5B	OMIM:619868
HP:0002240	Hepatomegaly	788	SLC25A20	ORPHA:159
HP:0002240	Hepatomegaly	788	SLC25A20	OMIM:212138
HP:0002240	Hepatomegaly	5373	PMM2	OMIM:212065
HP:0002240	Hepatomegaly	3039	HBA1	ORPHA:163596
HP:0002240	Hepatomegaly	3039	HBA1	OMIM:613978
HP:0002240	Hepatomegaly	3040	HBA2	ORPHA:163596
HP:0002240	Hepatomegaly	3040	HBA2	OMIM:613978
HP:0002240	Hepatomegaly	1244	ABCC2	ORPHA:234
HP:0002240	Hepatomegaly	9056	SLC7A7	ORPHA:470
HP:0002240	Hepatomegaly	9056	SLC7A7	OMIM:222700
HP:0002240	Hepatomegaly	1186	CLCN7	OMIM:618541
HP:0002240	Hepatomegaly	1186	CLCN7	ORPHA:667
HP:0002240	Hepatomegaly	1186	CLCN7	OMIM:611490
HP:0002240	Hepatomegaly	3043	HBB	ORPHA:46532
HP:0002240	Hepatomegaly	3043	HBB	ORPHA:231214
HP:0002240	Hepatomegaly	3043	HBB	ORPHA:231222
HP:0002240	Hepatomegaly	3043	HBB	OMIM:603903
HP:0002240	Hepatomegaly	3043	HBB	OMIM:603902
HP:0002240	Hepatomegaly	10661	KLF1	ORPHA:46532
HP:0002240	Hepatomegaly	10661	KLF1	OMIM:613673
HP:0002240	Hepatomegaly	3047	HBG1	ORPHA:46532
HP:0002240	Hepatomegaly	3048	HBG2	ORPHA:46532
HP:0002240	Hepatomegaly	3048	HBG2	OMIM:613977
HP:0002240	Hepatomegaly	5311	PKD2	OMIM:613095
HP:0002240	Hepatomegaly	8482	SEMA7A	OMIM:619874
HP:0002240	Hepatomegaly	1594	CYP27B1	ORPHA:289157
HP:0002240	Hepatomegaly	120227	CYP2R1	ORPHA:289157
HP:0002240	Hepatomegaly	2200	FBN1	OMIM:614185
HP:0002240	Hepatomegaly	54914	FOCAD	OMIM:619991
HP:0002240	Hepatomegaly	10068	IL18BP	OMIM:618549
HP:0002240	Hepatomegaly	7381	UQCRB	OMIM:615158
HP:0002240	Hepatomegaly	2592	GALT	OMIM:230400
HP:0002240	Hepatomegaly	2592	GALT	ORPHA:79239
HP:0002240	Hepatomegaly	5836	PYGL	OMIM:232700
HP:0002240	Hepatomegaly	5836	PYGL	ORPHA:369
HP:0002240	Hepatomegaly	54440	SASH3	OMIM:301082
HP:0002240	Hepatomegaly	2517	FUCA1	ORPHA:349
HP:0002240	Hepatomegaly	2517	FUCA1	OMIM:230000
HP:0002240	Hepatomegaly	285362	SUMF1	OMIM:272200
HP:0002240	Hepatomegaly	285362	SUMF1	ORPHA:585
HP:0002240	Hepatomegaly	2203	FBP1	ORPHA:348
HP:0002240	Hepatomegaly	2203	FBP1	OMIM:229700
HP:0002240	Hepatomegaly	166785	MMAA	OMIM:251100
HP:0002240	Hepatomegaly	85365	ALG2	ORPHA:79326
HP:0002240	Hepatomegaly	85365	ALG2	OMIM:607906
HP:0002240	Hepatomegaly	4598	MVK	ORPHA:343
HP:0002240	Hepatomegaly	5896	RAG1	OMIM:603554
HP:0002240	Hepatomegaly	5896	RAG1	ORPHA:39041
HP:0002240	Hepatomegaly	5896	RAG1	ORPHA:331206
HP:0002240	Hepatomegaly	5897	RAG2	OMIM:603554
HP:0002240	Hepatomegaly	5897	RAG2	ORPHA:39041
HP:0002240	Hepatomegaly	5897	RAG2	ORPHA:331206
HP:0002240	Hepatomegaly	64421	DCLRE1C	OMIM:603554
HP:0002240	Hepatomegaly	64421	DCLRE1C	OMIM:602450
HP:0002240	Hepatomegaly	64421	DCLRE1C	ORPHA:39041
HP:0002240	Hepatomegaly	5551	PRF1	OMIM:603553
HP:0002240	Hepatomegaly	5551	PRF1	ORPHA:540
HP:0002240	Hepatomegaly	79796	ALG9	ORPHA:79328
HP:0002240	Hepatomegaly	79796	ALG9	OMIM:608776
HP:0002240	Hepatomegaly	8676	STX11	OMIM:603552
HP:0002240	Hepatomegaly	8676	STX11	ORPHA:540
HP:0002240	Hepatomegaly	5244	ABCB4	OMIM:602347
HP:0002240	Hepatomegaly	57169	ZNFX1	OMIM:619644
HP:0002240	Hepatomegaly	11311	VPS45	OMIM:615285
HP:0002240	Hepatomegaly	10991	SLC38A3	OMIM:619881
HP:0002240	Hepatomegaly	11231	SEC63	ORPHA:2924
HP:0002240	Hepatomegaly	11231	SEC63	OMIM:617004
HP:0002240	Hepatomegaly	5589	PRKCSH	ORPHA:2924
HP:0002240	Hepatomegaly	4041	LRP5	ORPHA:2924
HP:0002240	Hepatomegaly	2542	SLC37A4	OMIM:619525
HP:0002240	Hepatomegaly	2542	SLC37A4	OMIM:232220
HP:0002240	Hepatomegaly	2542	SLC37A4	OMIM:232240
HP:0002240	Hepatomegaly	2542	SLC37A4	ORPHA:79259
HP:0002240	Hepatomegaly	7841	MOGS	ORPHA:79330
HP:0002240	Hepatomegaly	7841	MOGS	OMIM:606056
HP:0002240	Hepatomegaly	540	ATP7B	OMIM:277900
HP:0002240	Hepatomegaly	540	ATP7B	ORPHA:905
HP:0002240	Hepatomegaly	2683	B4GALT1	ORPHA:79332
HP:0002240	Hepatomegaly	91949	COG7	ORPHA:79333
HP:0002240	Hepatomegaly	91949	COG7	OMIM:608779
HP:0002240	Hepatomegaly	57104	PNPLA2	OMIM:610717
HP:0002240	Hepatomegaly	57104	PNPLA2	ORPHA:565612
HP:0002240	Hepatomegaly	57104	PNPLA2	ORPHA:98908
HP:0002240	Hepatomegaly	38	ACAT1	ORPHA:134
HP:0002240	Hepatomegaly	9968	MED12	OMIM:301068
HP:0002240	Hepatomegaly	3930	LBR	OMIM:215140
HP:0002240	Hepatomegaly	3930	LBR	ORPHA:779
HP:0002240	Hepatomegaly	3930	LBR	OMIM:613471
HP:0002240	Hepatomegaly	4351	MPI	ORPHA:79319
HP:0002240	Hepatomegaly	4351	MPI	OMIM:602579
HP:0002240	Hepatomegaly	7030	TFE3	OMIM:301066
HP:0002240	Hepatomegaly	2239	GPC4	ORPHA:373
HP:0002240	Hepatomegaly	2239	GPC4	OMIM:312870
HP:0002240	Hepatomegaly	2719	GPC3	ORPHA:373
HP:0002240	Hepatomegaly	2719	GPC3	OMIM:312870
HP:0002240	Hepatomegaly	811	CALR	ORPHA:131
HP:0002240	Hepatomegaly	811	CALR	ORPHA:824
HP:0002240	Hepatomegaly	811	CALR	OMIM:254450
HP:0002240	Hepatomegaly	3717	JAK2	ORPHA:131
HP:0002240	Hepatomegaly	3717	JAK2	ORPHA:824
HP:0002240	Hepatomegaly	3717	JAK2	ORPHA:729
HP:0002240	Hepatomegaly	3717	JAK2	OMIM:254450
HP:0002240	Hepatomegaly	2153	F5	ORPHA:131
HP:0002240	Hepatomegaly	51651	PTRH2	OMIM:616263
HP:0002240	Hepatomegaly	51651	PTRH2	ORPHA:456312
HP:0002240	Hepatomegaly	5966	REL	OMIM:619652
HP:0002240	Hepatomegaly	23162	MAPK8IP3	OMIM:618443
HP:0002240	Hepatomegaly	5692	PSMB4	OMIM:617591
HP:0002240	Hepatomegaly	79989	IFT56	OMIM:619534
HP:0002240	Hepatomegaly	3423	IDS	OMIM:309900
HP:0002240	Hepatomegaly	5286	PIK3C2A	OMIM:618440
HP:0002240	Hepatomegaly	8565	YARS1	OMIM:619418
HP:0002240	Hepatomegaly	84168	ANTXR1	OMIM:230740
HP:0002240	Hepatomegaly	3172	HNF4A	OMIM:616026
HP:0002240	Hepatomegaly	3172	HNF4A	ORPHA:263455
HP:0002240	Hepatomegaly	654	BMP6	ORPHA:465508
HP:0002240	Hepatomegaly	3077	HFE	ORPHA:465508
HP:0002240	Hepatomegaly	3077	HFE	OMIM:235200
HP:0002240	Hepatomegaly	2184	FAH	OMIM:276700
HP:0002240	Hepatomegaly	2184	FAH	ORPHA:882
HP:0002240	Hepatomegaly	8813	DPM1	ORPHA:79322
HP:0002240	Hepatomegaly	8813	DPM1	OMIM:608799
HP:0002240	Hepatomegaly	51311	TLR8	OMIM:301078
HP:0002240	Hepatomegaly	546	ATRX	ORPHA:100075
HP:0002240	Hepatomegaly	4615	MYD88	ORPHA:33226
HP:0002240	Hepatomegaly	2629	GBA1	ORPHA:77261
HP:0002240	Hepatomegaly	2629	GBA1	ORPHA:77260
HP:0002240	Hepatomegaly	2629	GBA1	ORPHA:77259
HP:0002240	Hepatomegaly	2629	GBA1	OMIM:230800
HP:0002240	Hepatomegaly	2629	GBA1	OMIM:230900
HP:0002240	Hepatomegaly	2629	GBA1	OMIM:608013
HP:0002240	Hepatomegaly	2629	GBA1	OMIM:231005
HP:0002240	Hepatomegaly	2629	GBA1	OMIM:231000
HP:0002240	Hepatomegaly	6576	SLC25A1	OMIM:615182
HP:0002240	Hepatomegaly	6927	HNF1A	ORPHA:324575
HP:0002240	Hepatomegaly	9742	IFT140	OMIM:266920
HP:0002240	Hepatomegaly	205327	C2orf69	OMIM:619423
HP:0002240	Hepatomegaly	4633	MYL2	OMIM:619424
HP:0002240	Hepatomegaly	5825	ABCD3	OMIM:616278
HP:0002240	Hepatomegaly	5256	PHKA2	ORPHA:264580
HP:0002240	Hepatomegaly	5256	PHKA2	OMIM:306000
HP:0002240	Hepatomegaly	5261	PHKG2	ORPHA:264580
HP:0002240	Hepatomegaly	5261	PHKG2	OMIM:613027
HP:0002240	Hepatomegaly	113220	KIF12	OMIM:619662
HP:0002240	Hepatomegaly	3000	GUCY2D	OMIM:204000
HP:0002240	Hepatomegaly	344	APOC2	OMIM:207750
HP:0002240	Hepatomegaly	335	APOA1	OMIM:620657
HP:0002240	Hepatomegaly	2582	GALE	OMIM:620776
HP:0002240	Hepatomegaly	2582	GALE	OMIM:230350
HP:0002240	Hepatomegaly	5277	PIGA	OMIM:301072
HP:0002240	Hepatomegaly	5277	PIGA	OMIM:300868
HP:0002240	Hepatomegaly	846	CASR	OMIM:239200
HP:0002240	Hepatomegaly	846	CASR	ORPHA:417
HP:0002240	Hepatomegaly	4594	MMUT	ORPHA:79312
HP:0002240	Hepatomegaly	4594	MMUT	ORPHA:289916
HP:0002240	Hepatomegaly	4594	MMUT	OMIM:251000
HP:0002240	Hepatomegaly	950	SCARB2	ORPHA:77259
HP:0002240	Hepatomegaly	435	ASL	ORPHA:23
HP:0002240	Hepatomegaly	435	ASL	OMIM:207900
HP:0002240	Hepatomegaly	3155	HMGCL	ORPHA:20
HP:0002240	Hepatomegaly	3155	HMGCL	OMIM:246450
HP:0002240	Hepatomegaly	65992	DDRGK1	OMIM:602557
HP:0002240	Hepatomegaly	6448	SGSH	OMIM:252900
HP:0002240	Hepatomegaly	10466	COG5	ORPHA:263487
HP:0002240	Hepatomegaly	10112	KIF20A	OMIM:619433
HP:0002240	Hepatomegaly	10112	KIF20A	ORPHA:75249
HP:0002240	Hepatomegaly	331	XIAP	OMIM:300635
HP:0002240	Hepatomegaly	331	XIAP	OMIM:308240
HP:0002240	Hepatomegaly	54517	PUS7	OMIM:618342
HP:0002240	Hepatomegaly	85476	GFM1	OMIM:609060
HP:0002240	Hepatomegaly	8818	DPM2	ORPHA:329178
HP:0002240	Hepatomegaly	3659	IRF1	OMIM:620668
HP:0002240	Hepatomegaly	9842	PLEKHM1	OMIM:618107
HP:0002240	Hepatomegaly	959	CD40LG	OMIM:308230
HP:0002240	Hepatomegaly	10102	TSFM	OMIM:610505
HP:0002240	Hepatomegaly	54790	TET2	ORPHA:75564
HP:0002240	Hepatomegaly	54790	TET2	ORPHA:98849
HP:0002240	Hepatomegaly	54790	TET2	ORPHA:824
HP:0002240	Hepatomegaly	23451	SF3B1	ORPHA:75564
HP:0002240	Hepatomegaly	10312	TCIRG1	ORPHA:667
HP:0002240	Hepatomegaly	10312	TCIRG1	OMIM:259700
HP:0002240	Hepatomegaly	29887	SNX10	ORPHA:667
HP:0002240	Hepatomegaly	29887	SNX10	OMIM:615085
HP:0002240	Hepatomegaly	8600	TNFSF11	ORPHA:667
HP:0002240	Hepatomegaly	5095	PCCA	ORPHA:35
HP:0002240	Hepatomegaly	5095	PCCA	OMIM:606054
HP:0002240	Hepatomegaly	5096	PCCB	ORPHA:35
HP:0002240	Hepatomegaly	5096	PCCB	OMIM:606054
HP:0002240	Hepatomegaly	201294	UNC13D	ORPHA:540
HP:0002240	Hepatomegaly	6813	STXBP2	ORPHA:540
HP:0002240	Hepatomegaly	55315	SLC29A3	OMIM:602782
HP:0002240	Hepatomegaly	6514	SLC2A2	OMIM:227810
HP:0002240	Hepatomegaly	6514	SLC2A2	ORPHA:2088
HP:0002240	Hepatomegaly	11277	TREX1	OMIM:225750
HP:0002240	Hepatomegaly	4695	NDUFA2	OMIM:618235
HP:0002240	Hepatomegaly	79868	ALG13	OMIM:300884
HP:0002240	Hepatomegaly	6729	SRP54	OMIM:260400
HP:0002240	Hepatomegaly	51119	SBDS	OMIM:260400
HP:0002240	Hepatomegaly	51119	SBDS	ORPHA:811
HP:0002240	Hepatomegaly	134218	DNAJC21	OMIM:260400
HP:0002240	Hepatomegaly	134218	DNAJC21	ORPHA:811
HP:0002240	Hepatomegaly	22861	NLRP1	OMIM:617388
HP:0002240	Hepatomegaly	150	ADRA2A	OMIM:620679
HP:0002240	Hepatomegaly	5660	PSAP	OMIM:611721
HP:0002240	Hepatomegaly	5660	PSAP	OMIM:610539
HP:0002240	Hepatomegaly	5660	PSAP	ORPHA:139406
HP:0002240	Hepatomegaly	55503	TRPV6	ORPHA:417
HP:0002240	Hepatomegaly	1130	LYST	OMIM:214500
HP:0002240	Hepatomegaly	81858	SHARPIN	OMIM:620795
HP:0002240	Hepatomegaly	348	APOE	ORPHA:412
HP:0002240	Hepatomegaly	348	APOE	ORPHA:158029
HP:0002240	Hepatomegaly	4068	SH2D1A	OMIM:308240
HP:0002240	Hepatomegaly	10166	SLC25A15	ORPHA:415
HP:0002240	Hepatomegaly	10166	SLC25A15	OMIM:238970
HP:0002240	Hepatomegaly	114548	NLRP3	ORPHA:575
HP:0002240	Hepatomegaly	114548	NLRP3	ORPHA:1451
HP:0002240	Hepatomegaly	537	ATP6AP1	OMIM:300972
HP:0002240	Hepatomegaly	34	ACADM	OMIM:201450
HP:0002240	Hepatomegaly	34	ACADM	ORPHA:42
HP:0002240	Hepatomegaly	4125	MAN2B1	OMIM:248500
HP:0002240	Hepatomegaly	50619	DEF6	OMIM:619573
HP:0002240	Hepatomegaly	3756	KCNH1	OMIM:135500
HP:0002240	Hepatomegaly	3756	KCNH1	ORPHA:3473
HP:0002240	Hepatomegaly	3394	IRF8	OMIM:226990
HP:0002240	Hepatomegaly	7468	NSD2	OMIM:619695
HP:0002240	Hepatomegaly	3643	INSR	OMIM:246200
HP:0002240	Hepatomegaly	3643	INSR	ORPHA:508
HP:0002240	Hepatomegaly	11274	USP18	OMIM:617397
HP:0002240	Hepatomegaly	10092	ARPC5	OMIM:620565
HP:0002240	Hepatomegaly	11145	PLAAT3	OMIM:620683
HP:0002240	Hepatomegaly	4864	NPC1	OMIM:257220
HP:0002240	Hepatomegaly	3158	HMGCS2	OMIM:605911
HP:0002240	Hepatomegaly	4547	MTTP	ORPHA:14
HP:0002240	Hepatomegaly	112812	FDX2	OMIM:251900
HP:0002240	Hepatomegaly	4556	MT-TE	ORPHA:254864
HP:0002240	Hepatomegaly	55630	SLC39A4	OMIM:201100
HP:0002240	Hepatomegaly	9451	EIF2AK3	OMIM:226980
HP:0002240	Hepatomegaly	9451	EIF2AK3	ORPHA:1667
HP:0002240	Hepatomegaly	8802	SUCLG1	ORPHA:17
HP:0002240	Hepatomegaly	6007	RHD	OMIM:619462
HP:0002240	Hepatomegaly	55340	GIMAP5	OMIM:619463
HP:0002240	Hepatomegaly	3560	IL2RB	OMIM:618495
HP:0002240	Hepatomegaly	6811	STX5	OMIM:620454
HP:0002240	Hepatomegaly	8883	NAE1	OMIM:620210
HP:0002240	Hepatomegaly	84701	COX4I2	OMIM:612714
HP:0002240	Hepatomegaly	60386	SLC25A19	ORPHA:99742
HP:0002240	Hepatomegaly	60386	SLC25A19	OMIM:607196
HP:0002240	Hepatomegaly	56244	BTNL2	ORPHA:797
HP:0002240	Hepatomegaly	56244	BTNL2	OMIM:612387
HP:0002240	Hepatomegaly	3123	HLA-DRB1	ORPHA:797
HP:0002240	Hepatomegaly	3123	HLA-DRB1	ORPHA:85414
HP:0002240	Hepatomegaly	3123	HLA-DRB1	OMIM:181000
HP:0002240	Hepatomegaly	650	BMP2	OMIM:235200
HP:0002240	Hepatomegaly	8943	AP3D1	OMIM:617050
HP:0002240	Hepatomegaly	37	ACADVL	OMIM:201475
HP:0002240	Hepatomegaly	37	ACADVL	ORPHA:26793
HP:0002240	Hepatomegaly	57003	CCDC47	OMIM:618268
HP:0002240	Hepatomegaly	57061	HYMAI	ORPHA:96191
HP:0002240	Hepatomegaly	5325	PLAGL1	ORPHA:96191
HP:0002240	Hepatomegaly	570	BAAT	OMIM:619232
HP:0002240	Hepatomegaly	94005	PIGS	OMIM:618143
HP:0002240	Hepatomegaly	83706	FERMT3	OMIM:612840
HP:0002240	Hepatomegaly	9420	CYP7B1	OMIM:613812
HP:0002240	Hepatomegaly	84665	MYPN	ORPHA:75249
HP:0002240	Hepatomegaly	2318	FLNC	ORPHA:75249
HP:0002240	Hepatomegaly	7139	TNNT2	ORPHA:75249
HP:0002240	Hepatomegaly	7137	TNNI3	ORPHA:75249
HP:0002240	Hepatomegaly	55636	CHD7	ORPHA:39041
HP:0002240	Hepatomegaly	3981	LIG4	ORPHA:39041
HP:0002240	Hepatomegaly	3981	LIG4	ORPHA:99812
HP:0002240	Hepatomegaly	100	ADA	ORPHA:39041
HP:0002240	Hepatomegaly	100	ADA	OMIM:102700
HP:0002240	Hepatomegaly	3575	IL7R	ORPHA:39041
HP:0002240	Hepatomegaly	3575	IL7R	OMIM:608971
HP:0002240	Hepatomegaly	100147744	RNU7-1	OMIM:619487
HP:0002240	Hepatomegaly	7504	XK	OMIM:300842
HP:0002240	Hepatomegaly	8567	MADD	OMIM:619004
HP:0002240	Hepatomegaly	8567	MADD	OMIM:619005
HP:0002240	Hepatomegaly	374354	NHLRC2	OMIM:618278
HP:0002240	Hepatomegaly	374879	ZNF699	OMIM:619488
HP:0002240	Hepatomegaly	10651	MTX2	OMIM:619127
HP:0002240	Hepatomegaly	226	ALDOA	OMIM:611881
HP:0002240	Hepatomegaly	3557	IL1RN	OMIM:612852
HP:0002240	Hepatomegaly	7284	TUFM	OMIM:610678
HP:0002240	Hepatomegaly	2799	GNS	OMIM:252940
HP:0002240	Hepatomegaly	3030	HADHA	OMIM:609016
HP:0002240	Hepatomegaly	3030	HADHA	ORPHA:5
HP:0002240	Hepatomegaly	10551	AGR2	OMIM:620233
HP:0002240	Hepatomegaly	55670	PEX26	ORPHA:772
HP:0002240	Hepatomegaly	55670	PEX26	OMIM:614872
HP:0002240	Hepatomegaly	55670	PEX26	ORPHA:912
HP:0002240	Hepatomegaly	5824	PEX19	ORPHA:772
HP:0002240	Hepatomegaly	5824	PEX19	ORPHA:912
HP:0002240	Hepatomegaly	5828	PEX2	ORPHA:772
HP:0002240	Hepatomegaly	5828	PEX2	OMIM:614866
HP:0002240	Hepatomegaly	5828	PEX2	ORPHA:912
HP:0002240	Hepatomegaly	8504	PEX3	ORPHA:772
HP:0002240	Hepatomegaly	8504	PEX3	OMIM:614882
HP:0002240	Hepatomegaly	8504	PEX3	ORPHA:912
HP:0002240	Hepatomegaly	9409	PEX16	ORPHA:772
HP:0002240	Hepatomegaly	9409	PEX16	OMIM:614876
HP:0002240	Hepatomegaly	9409	PEX16	ORPHA:912
HP:0002240	Hepatomegaly	5190	PEX6	ORPHA:772
HP:0002240	Hepatomegaly	5190	PEX6	OMIM:614862
HP:0002240	Hepatomegaly	5190	PEX6	OMIM:614863
HP:0002240	Hepatomegaly	5190	PEX6	ORPHA:912
HP:0002240	Hepatomegaly	8799	PEX11B	ORPHA:772
HP:0002240	Hepatomegaly	8799	PEX11B	ORPHA:912
HP:0002240	Hepatomegaly	5193	PEX12	ORPHA:772
HP:0002240	Hepatomegaly	5193	PEX12	OMIM:614859
HP:0002240	Hepatomegaly	5193	PEX12	ORPHA:912
HP:0002240	Hepatomegaly	5193	PEX12	OMIM:266510
HP:0002240	Hepatomegaly	5194	PEX13	ORPHA:772
HP:0002240	Hepatomegaly	5194	PEX13	ORPHA:912
HP:0002240	Hepatomegaly	5195	PEX14	ORPHA:772
HP:0002240	Hepatomegaly	5195	PEX14	OMIM:614887
HP:0002240	Hepatomegaly	5195	PEX14	ORPHA:912
HP:0002240	Hepatomegaly	5192	PEX10	ORPHA:772
HP:0002240	Hepatomegaly	5192	PEX10	OMIM:614870
HP:0002240	Hepatomegaly	5192	PEX10	ORPHA:912
HP:0002240	Hepatomegaly	3988	LIPA	ORPHA:75233
HP:0002240	Hepatomegaly	3988	LIPA	ORPHA:75234
HP:0002240	Hepatomegaly	3988	LIPA	OMIM:620151
HP:0002240	Hepatomegaly	3988	LIPA	OMIM:278000
HP:0002240	Hepatomegaly	940	CD28	ORPHA:3162
HP:0002240	Hepatomegaly	940	CD28	ORPHA:2584
HP:0002240	Hepatomegaly	7133	TNFRSF1B	ORPHA:3162
HP:0002240	Hepatomegaly	7133	TNFRSF1B	ORPHA:2584
HP:0002240	Hepatomegaly	7390	UROS	OMIM:263700
HP:0002240	Hepatomegaly	8651	SOCS1	OMIM:619375
HP:0002240	Hepatomegaly	9487	PIGL	OMIM:280000
HP:0002240	Hepatomegaly	383	ARG1	OMIM:207800
HP:0002240	Hepatomegaly	5236	PGM1	OMIM:614921
HP:0002240	Hepatomegaly	55005	RMND1	OMIM:614922
HP:0002240	Hepatomegaly	79651	RHBDF2	ORPHA:2198
HP:0002240	Hepatomegaly	3295	HSD17B4	OMIM:261515
HP:0002240	Hepatomegaly	6329	SCN4A	OMIM:620369
HP:0002240	Hepatomegaly	2624	GATA2	ORPHA:228423
HP:0002240	Hepatomegaly	22800	RRAS2	ORPHA:648
HP:0002240	Hepatomegaly	867	CBL	ORPHA:648
HP:0002240	Hepatomegaly	8216	LZTR1	ORPHA:648
HP:0002240	Hepatomegaly	6016	RIT1	ORPHA:648
HP:0002240	Hepatomegaly	6237	RRAS	ORPHA:648
HP:0002240	Hepatomegaly	5894	RAF1	ORPHA:648
HP:0002240	Hepatomegaly	22808	MRAS	ORPHA:648
HP:0002240	Hepatomegaly	3845	KRAS	ORPHA:648
HP:0002240	Hepatomegaly	3845	KRAS	OMIM:614470
HP:0002240	Hepatomegaly	200734	SPRED2	ORPHA:648
HP:0002240	Hepatomegaly	6654	SOS1	ORPHA:648
HP:0002240	Hepatomegaly	6655	SOS2	ORPHA:648
HP:0002240	Hepatomegaly	5781	PTPN11	ORPHA:648
HP:0002240	Hepatomegaly	5922	RASA2	ORPHA:648
HP:0002240	Hepatomegaly	138050	HGSNAT	OMIM:252930
HP:0002240	Hepatomegaly	10020	GNE	ORPHA:3166
HP:0002240	Hepatomegaly	10020	GNE	OMIM:269921
HP:0002240	Hepatomegaly	1376	CPT2	ORPHA:228305
HP:0002240	Hepatomegaly	1376	CPT2	ORPHA:228308
HP:0002240	Hepatomegaly	1376	CPT2	OMIM:600649
HP:0002240	Hepatomegaly	1376	CPT2	OMIM:608836
HP:0002240	Hepatomegaly	5468	PPARG	ORPHA:528
HP:0002240	Hepatomegaly	5468	PPARG	ORPHA:79083
HP:0002240	Hepatomegaly	10555	AGPAT2	ORPHA:528
HP:0002240	Hepatomegaly	10555	AGPAT2	OMIM:608594
HP:0002240	Hepatomegaly	284119	CAVIN1	ORPHA:528
HP:0002240	Hepatomegaly	284119	CAVIN1	OMIM:613327
HP:0002240	Hepatomegaly	26580	BSCL2	ORPHA:528
HP:0002240	Hepatomegaly	26580	BSCL2	OMIM:615924
HP:0002240	Hepatomegaly	26580	BSCL2	ORPHA:363400
HP:0002240	Hepatomegaly	26580	BSCL2	OMIM:269700
HP:0002240	Hepatomegaly	2353	FOS	ORPHA:528
HP:0002240	Hepatomegaly	857	CAV1	ORPHA:528
HP:0002240	Hepatomegaly	857	CAV1	OMIM:612526
HP:0002240	Hepatomegaly	124454	EARS2	OMIM:614924
HP:0002240	Hepatomegaly	1719	DHFR	OMIM:613839
HP:0002240	Hepatomegaly	64131	XYLT1	ORPHA:370930
HP:0002240	Hepatomegaly	129285	PPP1R21	OMIM:619383
HP:0002240	Hepatomegaly	51626	DYNC2LI1	OMIM:617088
HP:0002240	Hepatomegaly	5257	PHKB	OMIM:261750
HP:0002240	Hepatomegaly	5257	PHKB	ORPHA:79240
HP:0002240	Hepatomegaly	1604	CD55	OMIM:226300
HP:0002240	Hepatomegaly	146059	CDAN1	OMIM:224120
HP:0002240	Hepatomegaly	9652	SKIC3	ORPHA:84064
HP:0002240	Hepatomegaly	9652	SKIC3	OMIM:222470
HP:0002240	Hepatomegaly	6499	SKIC2	ORPHA:84064
HP:0002240	Hepatomegaly	6499	SKIC2	OMIM:614602
HP:0002240	Hepatomegaly	10535	RNASEH2A	OMIM:610333
HP:0002240	Hepatomegaly	5696	PSMB8	OMIM:256040
HP:0002240	Hepatomegaly	4669	NAGLU	OMIM:252920
HP:0002240	Hepatomegaly	4067	LYN	OMIM:620376
HP:0002240	Hepatomegaly	26276	VPS33B	OMIM:620010
HP:0002240	Hepatomegaly	27183	VPS4A	OMIM:619273
HP:0002240	Hepatomegaly	355	FAS	ORPHA:3261
HP:0002240	Hepatomegaly	355	FAS	OMIM:601859
HP:0002240	Hepatomegaly	356	FASLG	ORPHA:3261
HP:0002240	Hepatomegaly	356	FASLG	OMIM:601859
HP:0002240	Hepatomegaly	843	CASP10	ORPHA:3261
HP:0002240	Hepatomegaly	843	CASP10	OMIM:603909
HP:0002240	Hepatomegaly	144811	LACC1	ORPHA:85414
HP:0002240	Hepatomegaly	4282	MIF	ORPHA:85414
HP:0002240	Hepatomegaly	3569	IL6	ORPHA:85414
HP:0002240	Hepatomegaly	6309	SC5D	ORPHA:46059
HP:0002240	Hepatomegaly	4574	MT-TS1	OMIM:220110
HP:0002240	Hepatomegaly	4570	MT-TN	OMIM:220110
HP:0002240	Hepatomegaly	6834	SURF1	OMIM:220110
HP:0002240	Hepatomegaly	55532	SLC30A10	ORPHA:309854
HP:0002240	Hepatomegaly	55532	SLC30A10	OMIM:613280
HP:0002240	Hepatomegaly	83700	JAM3	OMIM:613730
HP:0002240	Hepatomegaly	57539	WDR35	OMIM:613610
HP:0002240	Hepatomegaly	171023	ASXL1	ORPHA:98849
HP:0002240	Hepatomegaly	3815	KIT	ORPHA:98849
HP:0002240	Hepatomegaly	6427	SRSF2	ORPHA:98849
HP:0002240	Hepatomegaly	4352	MPL	ORPHA:824
HP:0002240	Hepatomegaly	4352	MPL	OMIM:254450
HP:0002240	Hepatomegaly	7518	XRCC4	ORPHA:99812
HP:0002240	Hepatomegaly	8854	ALDH1A2	OMIM:620025
HP:0002240	Hepatomegaly	4758	NEU1	OMIM:256550
HP:0002240	Hepatomegaly	4758	NEU1	ORPHA:93399
HP:0002240	Hepatomegaly	4758	NEU1	ORPHA:93400
HP:0002240	Hepatomegaly	2038	EPB42	ORPHA:822
HP:0002240	Hepatomegaly	6521	SLC4A1	ORPHA:822
HP:0002240	Hepatomegaly	6710	SPTB	ORPHA:822
HP:0002240	Hepatomegaly	6708	SPTA1	ORPHA:822
HP:0002240	Hepatomegaly	286	ANK1	ORPHA:822
HP:0002240	Hepatomegaly	9051	PSTPIP1	OMIM:601979
HP:0002240	Hepatomegaly	54968	TMEM70	ORPHA:1194
HP:0002240	Hepatomegaly	6341	SCO1	OMIM:619048
HP:0002240	Hepatomegaly	2130	EWSR1	ORPHA:83469
HP:0002240	Hepatomegaly	7490	WT1	ORPHA:83469
HP:0002240	Hepatomegaly	6392	SDHD	OMIM:619167
HP:0002240	Hepatomegaly	79947	DHDDS	OMIM:613861
HP:0002240	Hepatomegaly	55788	LMBRD1	OMIM:277380
HP:0002240	Hepatomegaly	10225	CD96	OMIM:211750
HP:0002240	Hepatomegaly	30061	SLC40A1	OMIM:606069
HP:0002240	Hepatomegaly	79631	EFL1	ORPHA:811
HP:0002240	Hepatomegaly	79631	EFL1	OMIM:617941
HP:0002240	Hepatomegaly	7535	ZAP70	OMIM:269840
HP:0002240	Hepatomegaly	84987	COX14	OMIM:619053
HP:0002240	Hepatomegaly	6005	RHAG	OMIM:185000
HP:0002240	Hepatomegaly	1738	DLD	ORPHA:2394
HP:0002240	Hepatomegaly	1738	DLD	OMIM:246900
HP:0002240	Hepatomegaly	8647	ABCB11	OMIM:601847
HP:0002240	Hepatomegaly	8647	ABCB11	OMIM:605479
HP:0002240	Hepatomegaly	4509	MT-ATP8	ORPHA:254913
HP:0002240	Hepatomegaly	514	ATP5F1E	ORPHA:254913
HP:0002240	Hepatomegaly	513	ATP5F1D	ORPHA:254913
HP:0002240	Hepatomegaly	498	ATP5F1A	ORPHA:254913
HP:0002240	Hepatomegaly	84833	ATP5MK	ORPHA:254913
HP:0002240	Hepatomegaly	91647	ATPAF2	ORPHA:254913
HP:0002240	Hepatomegaly	91647	ATPAF2	OMIM:604273
HP:0002240	Hepatomegaly	5699	PSMB10	OMIM:619175
HP:0002240	Hepatomegaly	5699	PSMB10	OMIM:620807
HP:0002240	Hepatomegaly	2538	G6PC1	OMIM:232200
HP:0002240	Hepatomegaly	92579	G6PC3	OMIM:612541
HP:0002240	Hepatomegaly	6786	STIM1	OMIM:612783
HP:0002240	Hepatomegaly	9927	MFN2	ORPHA:2398
HP:0002240	Hepatomegaly	686	BTD	OMIM:253260
HP:0002240	Hepatomegaly	8792	TNFRSF11A	OMIM:612301
HP:0002240	Hepatomegaly	7132	TNFRSF1A	OMIM:142680
HP:0002240	Hepatomegaly	208	AKT2	ORPHA:79085
HP:0002240	Hepatomegaly	55858	TMEM165	OMIM:614727
HP:0002240	Hepatomegaly	7840	ALMS1	OMIM:203800
HP:0002240	Hepatomegaly	7840	ALMS1	ORPHA:64
HP:0002240	Hepatomegaly	8546	AP3B1	OMIM:608233
HP:0002240	Hepatomegaly	5313	PKLR	OMIM:266200
HP:0002240	Hepatomegaly	56984	PSMG2	OMIM:619183
HP:0002240	Hepatomegaly	1717	DHCR7	OMIM:270400
HP:0002240	Hepatomegaly	23116	TOGARAM1	OMIM:619185
HP:0002240	Hepatomegaly	9377	COX5A	OMIM:619064
HP:0002240	Hepatomegaly	4591	TRIM37	OMIM:253250
HP:0002240	Hepatomegaly	4591	TRIM37	ORPHA:2576
HP:0002240	Hepatomegaly	23230	VPS13A	ORPHA:2388
HP:0002240	Hepatomegaly	63894	VIPAS39	OMIM:613404
HP:0002240	Hepatomegaly	79053	ALG8	OMIM:608104
HP:0002240	Hepatomegaly	526	ATP6V1B2	ORPHA:3473
HP:0002240	Hepatomegaly	3782	KCNN3	ORPHA:3473
HP:0002240	Hepatomegaly	3425	IDUA	OMIM:607014
HP:0002240	Hepatomegaly	3425	IDUA	OMIM:607015
HP:0002240	Hepatomegaly	3425	IDUA	ORPHA:93474
HP:0002240	Hepatomegaly	3425	IDUA	ORPHA:93473
HP:0002240	Hepatomegaly	3425	IDUA	ORPHA:93476
HP:0002240	Hepatomegaly	175	AGA	ORPHA:93
HP:0002240	Hepatomegaly	175	AGA	OMIM:208400
HP:0002240	Hepatomegaly	4853	NOTCH2	ORPHA:955
HP:0002240	Hepatomegaly	374393	FAM111B	OMIM:615704
HP:0002240	Hepatomegaly	338328	GPIHBP1	OMIM:615947
HP:0002240	Hepatomegaly	3055	HCK	OMIM:620296
HP:0002240	Hepatomegaly	2243	FGA	OMIM:105200
HP:0002240	Hepatomegaly	1798	DPAGT1	ORPHA:86309
HP:0002240	Hepatomegaly	5091	PC	OMIM:266150
HP:0002240	Hepatomegaly	4607	MYBPC3	OMIM:115197
HP:0002240	Hepatomegaly	51660	MPC1	OMIM:614741
HP:0002240	Hepatomegaly	3991	LIPE	ORPHA:435660
HP:0002240	Hepatomegaly	4519	MT-CYB	ORPHA:137675
HP:0002240	Hepatomegaly	5265	SERPINA1	ORPHA:60
HP:0002240	Hepatomegaly	5428	POLG	OMIM:203700
HP:0002240	Hepatomegaly	23600	AMACR	OMIM:214950
HP:0002240	Hepatomegaly	9719	ADAMTSL2	OMIM:231050
HP:0002240	Hepatomegaly	91147	TMEM67	OMIM:607361
HP:0002240	Hepatomegaly	91147	TMEM67	OMIM:216360
HP:0002240	Hepatomegaly	91147	TMEM67	ORPHA:1454
HP:0002240	Hepatomegaly	6609	SMPD1	OMIM:257200
HP:0002240	Hepatomegaly	6609	SMPD1	ORPHA:77293
HP:0002240	Hepatomegaly	6609	SMPD1	OMIM:607616
HP:0002240	Hepatomegaly	5293	PIK3CD	ORPHA:397596
HP:0002240	Hepatomegaly	5295	PIK3R1	ORPHA:397596
HP:0002240	Hepatomegaly	2548	GAA	ORPHA:308552
HP:0002240	Hepatomegaly	2548	GAA	OMIM:232300
HP:0002240	Hepatomegaly	6288	SAA1	ORPHA:85445
HP:0002240	Hepatomegaly	64135	IFIH1	OMIM:615846
HP:0002240	Hepatomegaly	10165	SLC25A13	ORPHA:247598
HP:0002240	Hepatomegaly	10165	SLC25A13	ORPHA:247585
HP:0002240	Hepatomegaly	3662	IRF4	ORPHA:3452
HP:0002240	Hepatomegaly	388015	RTL1	ORPHA:96334
HP:0002240	Hepatomegaly	8788	DLK1	ORPHA:96334
HP:0002240	Hepatomegaly	55384	MEG3	ORPHA:96334
HP:0002240	Hepatomegaly	3911	LAMA5	OMIM:620076
HP:0002240	Hepatomegaly	55343	SLC35C1	ORPHA:99843
HP:0002240	Hepatomegaly	8314	BAP1	ORPHA:50251
HP:0002240	Hepatomegaly	1028	CDKN1C	OMIM:130650
HP:0002240	Hepatomegaly	3481	IGF2	OMIM:130650
HP:0002240	Hepatomegaly	3784	KCNQ1	OMIM:130650
HP:0002240	Hepatomegaly	10984	KCNQ1OT1	OMIM:130650
HP:0002240	Hepatomegaly	162417	NAGS	ORPHA:927
HP:0002240	Hepatomegaly	57817	HAMP	OMIM:613313
HP:0002240	Hepatomegaly	445	ASS1	OMIM:215700
HP:0002240	Hepatomegaly	147007	TMEM199	OMIM:616829
HP:0002240	Hepatomegaly	84317	CCDC115	OMIM:616828
HP:0002240	Hepatomegaly	28962	OSTM1	OMIM:259720
HP:0002240	Hepatomegaly	10568	SLC34A2	ORPHA:60025
HP:0002240	Hepatomegaly	51067	YARS2	OMIM:613561
HP:0002240	Hepatomegaly	93183	PIGM	OMIM:610293
HP:0002240	Hepatomegaly	7351	UCP2	ORPHA:276556
HP:0002240	Hepatomegaly	57410	SCYL1	OMIM:616719
HP:0002240	Hepatomegaly	6888	TALDO1	OMIM:606003
HP:0002240	Hepatomegaly	56052	ALG1	OMIM:608540
HP:0002240	Hepatomegaly	4054	LTBP3	OMIM:617809
HP:0002240	Hepatomegaly	10159	ATP6AP2	OMIM:301045
HP:0002240	Hepatomegaly	26160	IFT172	OMIM:615630
HP:0002240	Hepatomegaly	84529	CDIN1	OMIM:615631
HP:0002240	Hepatomegaly	11133	KPTN	OMIM:615637
HP:0002240	Hepatomegaly	6948	TCN2	OMIM:275350
HP:0002240	Hepatomegaly	5156	PDGFRA	OMIM:607685
HP:0002240	Hepatomegaly	1776	DNASE1L3	ORPHA:36412
HP:0002240	Hepatomegaly	9780	PIEZO1	OMIM:194380
HP:0002240	Hepatomegaly	4173	MCM4	OMIM:609981
HP:0002240	Hepatomegaly	411	ARSB	OMIM:253200
HP:0002240	Hepatomegaly	55593	OTUD5	OMIM:301056
HP:0002240	Hepatomegaly	3074	HEXB	OMIM:268800
HP:0002240	Hepatomegaly	549	AUH	ORPHA:67046
HP:0002240	Hepatomegaly	10525	HYOU1	OMIM:233600
HP:0002240	Hepatomegaly	4792	NFKBIA	OMIM:612132
HP:0002240	Hepatomegaly	169792	GLIS3	OMIM:610199
HP:0002240	Hepatomegaly	6513	SLC2A1	OMIM:608885
HP:0002240	Hepatomegaly	9076	CLDN1	ORPHA:59303
HP:0002240	Hepatomegaly	9076	CLDN1	OMIM:607626
HP:0002240	Hepatomegaly	6833	ABCC8	ORPHA:276575
HP:0002240	Hepatomegaly	3767	KCNJ11	ORPHA:276580
HP:0002240	Hepatomegaly	7547	ZIC3	OMIM:306955
HP:0002240	Hepatomegaly	9663	LPIN2	ORPHA:77297
HP:0002240	Hepatomegaly	51218	GLRX5	OMIM:616860
HP:0002240	Hepatomegaly	6097	RORC	OMIM:616622
HP:0002240	Hepatomegaly	26007	TKFC	OMIM:618805
HP:0002240	Hepatomegaly	4358	MPV17	OMIM:256810
HP:0002240	Hepatomegaly	10616	RBCK1	OMIM:615895
HP:0002240	Hepatomegaly	6663	SOX10	ORPHA:163746
HP:0002240	Hepatomegaly	708	C1QBP	OMIM:617713
HP:0002240	Hepatomegaly	284086	NEK8	OMIM:615415
HP:0002240	Hepatomegaly	3431	SP110	ORPHA:79124
HP:0002240	Hepatomegaly	3248	HPGD	ORPHA:2796
HP:0002240	Hepatomegaly	6578	SLCO2A1	ORPHA:2796
HP:0002240	Hepatomegaly	55764	IFT122	OMIM:218330
HP:0002240	Hepatomegaly	84061	MAGT1	OMIM:301031
HP:0002240	Hepatomegaly	57511	COG6	OMIM:614576
HP:0002240	Hepatomegaly	427	ASAH1	OMIM:228000
HP:0002240	Hepatomegaly	56623	INPP5E	ORPHA:1454
HP:0002240	Hepatomegaly	23322	RPGRIP1L	ORPHA:1454
HP:0002240	Hepatomegaly	57545	CC2D2A	ORPHA:1454
HP:0002240	Hepatomegaly	55210	ATAD3A	OMIM:618810
HP:0002240	Hepatomegaly	25839	COG4	OMIM:613489
HP:0002240	Hepatomegaly	326625	MMAB	OMIM:251110
HP:0002240	Hepatomegaly	5873	RAB27A	ORPHA:79477
HP:0002240	Hepatomegaly	760	CA2	ORPHA:2785
HP:0002240	Hepatomegaly	2584	GALK1	ORPHA:79237
HP:0002240	Hepatomegaly	9997	SCO2	OMIM:604377
HP:0002240	Hepatomegaly	10367	MICU1	OMIM:615673
HP:0002240	Hepatomegaly	3702	ITK	OMIM:613011
HP:0002240	Hepatomegaly	11222	MRPL3	OMIM:614582
HP:0002240	Hepatomegaly	2588	GALNS	OMIM:253000
HP:0002240	Hepatomegaly	975	CD81	OMIM:613496
HP:0002240	Hepatomegaly	10019	SH2B3	OMIM:254450
HP:0002240	Hepatomegaly	5580	PRKCD	OMIM:615559
HP:0002240	Hepatomegaly	51520	LARS1	OMIM:615438
HP:0002240	Hepatomegaly	5205	ATP8B1	OMIM:211600
HP:0002240	Hepatomegaly	5205	ATP8B1	OMIM:243300
HP:0002240	Hepatomegaly	2065	ERBB3	OMIM:133180
HP:0002240	Hepatomegaly	26047	CNTNAP2	ORPHA:163681
HP:0002240	Hepatomegaly	3594	IL12RB1	ORPHA:186
HP:0002240	Hepatomegaly	23534	TNPO3	ORPHA:186
HP:0002240	Hepatomegaly	3592	IL12A	ORPHA:186
HP:0002240	Hepatomegaly	6689	SPIB	ORPHA:186
HP:0002240	Hepatomegaly	5450	POU2AF1	ORPHA:186
HP:0002240	Hepatomegaly	9966	TNFSF15	ORPHA:186
HP:0002240	Hepatomegaly	79258	MMEL1	ORPHA:186
HP:0002240	Hepatomegaly	3663	IRF5	ORPHA:186
HP:0002240	Hepatomegaly	200894	ARL13B	OMIM:612291
HP:0002240	Hepatomegaly	27031	NPHP3	OMIM:208540
HP:0002240	Hepatomegaly	100151683	RNU4ATAC	OMIM:616651
HP:0002240	Hepatomegaly	83737	ITCH	OMIM:613385
HP:0002240	Hepatomegaly	51816	ADA2	OMIM:615688
HP:0002240	Hepatomegaly	28957	MRPS28	OMIM:618958
HP:0002240	Hepatomegaly	3931	LCAT	ORPHA:79292
HP:0002240	Hepatomegaly	100506658	OCLN	OMIM:251290
HP:0002240	Hepatomegaly	27232	GNMT	OMIM:606664
HP:0002240	Hepatomegaly	10577	NPC2	OMIM:607625
HP:0002240	Hepatomegaly	2819	GPD1	OMIM:614480
HP:0002240	Hepatomegaly	139818	DOCK11	OMIM:301109
HP:0002240	Hepatomegaly	51081	MRPS7	OMIM:617872
HP:0002240	Hepatomegaly	26503	SLC17A5	OMIM:269920
HP:0002240	Hepatomegaly	178	AGL	OMIM:232400
HP:0002240	Hepatomegaly	2990	GUSB	OMIM:253220
HP:0002240	Hepatomegaly	4668	NAGA	ORPHA:79281
HP:0002240	Hepatomegaly	4668	NAGA	ORPHA:79279
HP:0002240	Hepatomegaly	2639	GCDH	OMIM:231670
HP:0002240	Hepatomegaly	139886	SPIN4	OMIM:301114
HP:0002240	Hepatomegaly	8737	RIPK1	OMIM:618852
HP:0002240	Hepatomegaly	28985	MCTS1	OMIM:301115
HP:0002240	Hepatomegaly	80169	CTC1	ORPHA:1775
HP:0002240	Hepatomegaly	26277	TINF2	ORPHA:1775
HP:0002240	Hepatomegaly	55651	NHP2	ORPHA:1775
HP:0002240	Hepatomegaly	79650	USB1	ORPHA:1775
HP:0002240	Hepatomegaly	55135	WRAP53	ORPHA:1775
HP:0002240	Hepatomegaly	51750	RTEL1	ORPHA:1775
HP:0002240	Hepatomegaly	4869	NPM1	ORPHA:1775
HP:0002240	Hepatomegaly	7012	TERC	ORPHA:1775
HP:0002240	Hepatomegaly	55505	NOP10	ORPHA:1775
HP:0002240	Hepatomegaly	5073	PARN	ORPHA:1775
HP:0002240	Hepatomegaly	7015	TERT	ORPHA:1775
HP:0002240	Hepatomegaly	1736	DKC1	ORPHA:1775
HP:0002240	Hepatomegaly	7298	TYMS	ORPHA:1775
HP:0002240	Hepatomegaly	8625	RFXANK	OMIM:620815
HP:0002240	Hepatomegaly	57728	WDR19	OMIM:614376
HP:0002240	Hepatomegaly	3636	INPPL1	ORPHA:2746
HP:0002240	Hepatomegaly	1794	DOCK2	OMIM:616433
HP:0002240	Hepatomegaly	2110	ETFDH	OMIM:231680
HP:0002240	Hepatomegaly	2108	ETFA	OMIM:231680
HP:0002240	Hepatomegaly	2109	ETFB	OMIM:231680
HP:0002240	Hepatomegaly	5052	PRDX1	OMIM:277400
HP:0002240	Hepatomegaly	25974	MMACHC	OMIM:277400
HP:0001394	Cirrhosis	435	ASL	ORPHA:23
HP:0001394	Cirrhosis	94	ACVRL1	OMIM:600376
HP:0001394	Cirrhosis	94	ACVRL1	ORPHA:774
HP:0001394	Cirrhosis	229	ALDOB	OMIM:229600
HP:0001394	Cirrhosis	2632	GBE1	OMIM:232500
HP:0001394	Cirrhosis	9414	TJP2	OMIM:615878
HP:0001394	Cirrhosis	3875	KRT18	OMIM:215600
HP:0001394	Cirrhosis	1736	DKC1	OMIM:305000
HP:0001394	Cirrhosis	1736	DKC1	ORPHA:1775
HP:0001394	Cirrhosis	84320	ACBD6	OMIM:620785
HP:0001394	Cirrhosis	148738	HJV	OMIM:602390
HP:0001394	Cirrhosis	959	CD40LG	OMIM:308230
HP:0001394	Cirrhosis	80270	HSD3B7	ORPHA:79301
HP:0001394	Cirrhosis	80270	HSD3B7	OMIM:607765
HP:0001394	Cirrhosis	5314	PKHD1	ORPHA:53035
HP:0001394	Cirrhosis	9420	CYP7B1	ORPHA:79302
HP:0001394	Cirrhosis	9420	CYP7B1	OMIM:613812
HP:0001394	Cirrhosis	91147	TMEM67	OMIM:216360
HP:0001394	Cirrhosis	91147	TMEM67	ORPHA:1454
HP:0001394	Cirrhosis	91147	TMEM67	ORPHA:84081
HP:0001394	Cirrhosis	10165	SLC25A13	OMIM:605814
HP:0001394	Cirrhosis	6888	TALDO1	ORPHA:101028
HP:0001394	Cirrhosis	6888	TALDO1	OMIM:606003
HP:0001394	Cirrhosis	2153	F5	OMIM:600880
HP:0001394	Cirrhosis	2153	F5	ORPHA:131
HP:0001394	Cirrhosis	3717	JAK2	OMIM:600880
HP:0001394	Cirrhosis	3717	JAK2	ORPHA:131
HP:0001394	Cirrhosis	26580	BSCL2	ORPHA:363400
HP:0001394	Cirrhosis	26580	BSCL2	OMIM:269700
HP:0001394	Cirrhosis	26580	BSCL2	ORPHA:528
HP:0001394	Cirrhosis	727897	MUC5B	OMIM:178500
HP:0001394	Cirrhosis	6440	SFTPC	OMIM:178500
HP:0001394	Cirrhosis	729238	SFTPA2	OMIM:178500
HP:0001394	Cirrhosis	7015	TERT	OMIM:178500
HP:0001394	Cirrhosis	7015	TERT	OMIM:127550
HP:0001394	Cirrhosis	7015	TERT	OMIM:614742
HP:0001394	Cirrhosis	7015	TERT	ORPHA:1775
HP:0001394	Cirrhosis	162	AP1B1	OMIM:242150
HP:0001394	Cirrhosis	4141	MARS1	OMIM:615486
HP:0001394	Cirrhosis	55651	NHP2	OMIM:613987
HP:0001394	Cirrhosis	55651	NHP2	ORPHA:1775
HP:0001394	Cirrhosis	26277	TINF2	OMIM:127550
HP:0001394	Cirrhosis	26277	TINF2	ORPHA:1775
HP:0001394	Cirrhosis	7012	TERC	OMIM:127550
HP:0001394	Cirrhosis	7012	TERC	OMIM:614743
HP:0001394	Cirrhosis	7012	TERC	ORPHA:1775
HP:0001394	Cirrhosis	3930	LBR	ORPHA:779
HP:0001394	Cirrhosis	5698	PSMB9	OMIM:620796
HP:0001394	Cirrhosis	30061	SLC40A1	OMIM:606069
HP:0001394	Cirrhosis	5428	POLG	ORPHA:298
HP:0001394	Cirrhosis	1890	TYMP	ORPHA:298
HP:0001394	Cirrhosis	3980	LIG3	ORPHA:298
HP:0001394	Cirrhosis	50484	RRM2B	ORPHA:298
HP:0001394	Cirrhosis	25839	COG4	ORPHA:263501
HP:0001394	Cirrhosis	25839	COG4	OMIM:613489
HP:0001394	Cirrhosis	2022	ENG	OMIM:187300
HP:0001394	Cirrhosis	2022	ENG	ORPHA:774
HP:0001394	Cirrhosis	1080	CFTR	OMIM:219700
HP:0001394	Cirrhosis	1080	CFTR	ORPHA:586
HP:0001394	Cirrhosis	2212	FCGR2A	OMIM:219700
HP:0001394	Cirrhosis	7040	TGFB1	OMIM:219700
HP:0001394	Cirrhosis	7040	TGFB1	ORPHA:586
HP:0001394	Cirrhosis	6609	SMPD1	ORPHA:77293
HP:0001394	Cirrhosis	8647	ABCB11	OMIM:601847
HP:0001394	Cirrhosis	51473	DCDC2	OMIM:617394
HP:0001394	Cirrhosis	51473	DCDC2	ORPHA:84081
HP:0001394	Cirrhosis	2859	GPR35	ORPHA:171
HP:0001394	Cirrhosis	10507	SEMA4D	ORPHA:171
HP:0001394	Cirrhosis	4485	MST1	ORPHA:171
HP:0001394	Cirrhosis	6925	TCF4	ORPHA:171
HP:0001394	Cirrhosis	537	ATP6AP1	OMIM:300972
HP:0001394	Cirrhosis	51218	GLRX5	OMIM:616860
HP:0001394	Cirrhosis	7019	TFAM	OMIM:617156
HP:0001394	Cirrhosis	348	APOE	OMIM:269600
HP:0001394	Cirrhosis	3988	LIPA	OMIM:278000
HP:0001394	Cirrhosis	3988	LIPA	ORPHA:75234
HP:0001394	Cirrhosis	4358	MPV17	OMIM:256810
HP:0001394	Cirrhosis	5468	PPARG	ORPHA:79083
HP:0001394	Cirrhosis	5468	PPARG	OMIM:604367
HP:0001394	Cirrhosis	5468	PPARG	ORPHA:528
HP:0001394	Cirrhosis	6499	SKIC2	OMIM:614602
HP:0001394	Cirrhosis	6499	SKIC2	ORPHA:84064
HP:0001394	Cirrhosis	5257	PHKB	ORPHA:79240
HP:0001394	Cirrhosis	10555	AGPAT2	OMIM:608594
HP:0001394	Cirrhosis	10555	AGPAT2	ORPHA:528
HP:0001394	Cirrhosis	1717	DHCR7	OMIM:270400
HP:0001394	Cirrhosis	4547	MTTP	ORPHA:14
HP:0001394	Cirrhosis	5277	PIGA	OMIM:300868
HP:0001394	Cirrhosis	5277	PIGA	OMIM:301072
HP:0001394	Cirrhosis	57511	COG6	OMIM:614576
HP:0001394	Cirrhosis	7289	TULP3	OMIM:619902
HP:0001394	Cirrhosis	56623	INPP5E	ORPHA:1454
HP:0001394	Cirrhosis	23322	RPGRIP1L	ORPHA:1454
HP:0001394	Cirrhosis	57545	CC2D2A	ORPHA:1454
HP:0001394	Cirrhosis	9971	NR1H4	OMIM:617049
HP:0001394	Cirrhosis	1174	AP1S1	OMIM:609313
HP:0001394	Cirrhosis	650	BMP2	OMIM:235200
HP:0001394	Cirrhosis	3077	HFE	OMIM:235200
HP:0001394	Cirrhosis	3077	HFE	ORPHA:586
HP:0001394	Cirrhosis	3077	HFE	ORPHA:465508
HP:0001394	Cirrhosis	7840	ALMS1	ORPHA:64
HP:0001394	Cirrhosis	9056	SLC7A7	ORPHA:470
HP:0001394	Cirrhosis	5265	SERPINA1	OMIM:613490
HP:0001394	Cirrhosis	5265	SERPINA1	ORPHA:60
HP:0001394	Cirrhosis	5265	SERPINA1	ORPHA:586
HP:0001394	Cirrhosis	3043	HBB	ORPHA:231214
HP:0001394	Cirrhosis	3043	HBB	ORPHA:231222
HP:0001394	Cirrhosis	3043	HBB	ORPHA:231226
HP:0001394	Cirrhosis	540	ATP7B	ORPHA:905
HP:0001394	Cirrhosis	540	ATP7B	OMIM:277900
HP:0001394	Cirrhosis	2592	GALT	OMIM:230400
HP:0001394	Cirrhosis	5205	ATP8B1	OMIM:211600
HP:0001394	Cirrhosis	10056	FARSB	OMIM:613658
HP:0001394	Cirrhosis	7036	TFR2	OMIM:604250
HP:0001394	Cirrhosis	6804	STX1A	ORPHA:586
HP:0001394	Cirrhosis	2947	GSTM3	ORPHA:586
HP:0001394	Cirrhosis	2729	GCLC	ORPHA:586
HP:0001394	Cirrhosis	1084	CEACAM3	ORPHA:586
HP:0001394	Cirrhosis	6556	SLC11A1	ORPHA:586
HP:0001394	Cirrhosis	51164	DCTN4	ORPHA:586
HP:0001394	Cirrhosis	3783	KCNN4	ORPHA:586
HP:0001394	Cirrhosis	4282	MIF	ORPHA:586
HP:0001394	Cirrhosis	1909	EDNRA	ORPHA:586
HP:0001394	Cirrhosis	6550	SLC9A3	ORPHA:586
HP:0001394	Cirrhosis	3162	HMOX1	ORPHA:586
HP:0001394	Cirrhosis	115019	SLC26A9	ORPHA:586
HP:0001394	Cirrhosis	11254	SLC6A14	ORPHA:586
HP:0001394	Cirrhosis	22802	CLCA4	ORPHA:586
HP:0001394	Cirrhosis	4680	CEACAM6	ORPHA:586
HP:0001394	Cirrhosis	5244	ABCB4	OMIM:602347
HP:0001394	Cirrhosis	3594	IL12RB1	ORPHA:186
HP:0001394	Cirrhosis	23534	TNPO3	ORPHA:186
HP:0001394	Cirrhosis	3592	IL12A	ORPHA:186
HP:0001394	Cirrhosis	6689	SPIB	ORPHA:186
HP:0001394	Cirrhosis	5450	POU2AF1	ORPHA:186
HP:0001394	Cirrhosis	9966	TNFSF15	ORPHA:186
HP:0001394	Cirrhosis	79258	MMEL1	ORPHA:186
HP:0001394	Cirrhosis	3663	IRF5	ORPHA:186
HP:0001394	Cirrhosis	5189	PEX1	OMIM:601539
HP:0001394	Cirrhosis	27031	NPHP3	OMIM:208540
HP:0001394	Cirrhosis	1356	CP	ORPHA:48818
HP:0001394	Cirrhosis	50615	IL21R	OMIM:615207
HP:0001394	Cirrhosis	57570	TRMT5	OMIM:616539
HP:0001394	Cirrhosis	5261	PHKG2	OMIM:613027
HP:0001394	Cirrhosis	5261	PHKG2	ORPHA:264580
HP:0001394	Cirrhosis	182	JAG1	OMIM:118450
HP:0001394	Cirrhosis	3516	RBPJ	ORPHA:974
HP:0001394	Cirrhosis	4851	NOTCH1	ORPHA:974
HP:0001394	Cirrhosis	57514	ARHGAP31	ORPHA:974
HP:0001394	Cirrhosis	57572	DOCK6	ORPHA:974
HP:0001394	Cirrhosis	285203	EOGT	ORPHA:974
HP:0001394	Cirrhosis	54567	DLL4	ORPHA:974
HP:0001394	Cirrhosis	9968	MED12	OMIM:301068
HP:0001394	Cirrhosis	2658	GDF2	ORPHA:774
HP:0001394	Cirrhosis	4089	SMAD4	ORPHA:774
HP:0001394	Cirrhosis	4351	MPI	OMIM:602579
HP:0001394	Cirrhosis	811	CALR	ORPHA:131
HP:0001394	Cirrhosis	79989	IFT56	OMIM:619534
HP:0001394	Cirrhosis	9652	SKIC3	OMIM:222470
HP:0001394	Cirrhosis	9652	SKIC3	ORPHA:84064
HP:0001394	Cirrhosis	8565	YARS1	OMIM:619418
HP:0001394	Cirrhosis	654	BMP6	ORPHA:465508
HP:0001394	Cirrhosis	57817	HAMP	OMIM:613313
HP:0001394	Cirrhosis	445	ASS1	OMIM:215700
HP:0001394	Cirrhosis	84317	CCDC115	OMIM:616828
HP:0001394	Cirrhosis	2184	FAH	OMIM:276700
HP:0001394	Cirrhosis	83737	ITCH	ORPHA:228426
HP:0001394	Cirrhosis	284119	CAVIN1	ORPHA:528
HP:0001394	Cirrhosis	2353	FOS	ORPHA:528
HP:0001394	Cirrhosis	857	CAV1	ORPHA:528
HP:0001394	Cirrhosis	5836	PYGL	ORPHA:369
HP:0001394	Cirrhosis	617	BCS1L	ORPHA:53693
HP:0001394	Cirrhosis	55532	SLC30A10	OMIM:613280
HP:0001394	Cirrhosis	112752	IFT43	OMIM:614099
HP:0001394	Cirrhosis	5256	PHKA2	ORPHA:264580
HP:0001394	Cirrhosis	113220	KIF12	OMIM:619662
HP:0001394	Cirrhosis	80169	CTC1	ORPHA:1775
HP:0001394	Cirrhosis	79650	USB1	ORPHA:1775
HP:0001394	Cirrhosis	55135	WRAP53	ORPHA:1775
HP:0001394	Cirrhosis	51750	RTEL1	ORPHA:1775
HP:0001394	Cirrhosis	4869	NPM1	ORPHA:1775
HP:0001394	Cirrhosis	55505	NOP10	ORPHA:1775
HP:0001394	Cirrhosis	5073	PARN	ORPHA:1775
HP:0001394	Cirrhosis	7298	TYMS	ORPHA:1775
HP:0001394	Cirrhosis	7389	UROD	OMIM:176100
HP:0001394	Cirrhosis	2235	FECH	ORPHA:79278
HP:0001394	Cirrhosis	2629	GBA1	ORPHA:77259
HP:0001394	Cirrhosis	950	SCARB2	ORPHA:77259
HP:0001394	Cirrhosis	10159	ATP6AP2	OMIM:301045
HP:0001394	Cirrhosis	4233	MET	OMIM:114550
HP:0001394	Cirrhosis	1499	CTNNB1	OMIM:114550
HP:0001394	Cirrhosis	8312	AXIN1	OMIM:114550
HP:0001394	Cirrhosis	324	APC	OMIM:114550
HP:0001394	Cirrhosis	5157	PDGFRL	OMIM:114550
HP:0001394	Cirrhosis	5290	PIK3CA	OMIM:114550
HP:0001394	Cirrhosis	3482	IGF2R	OMIM:114550
HP:0001394	Cirrhosis	841	CASP8	OMIM:114550
HP:0001394	Cirrhosis	7157	TP53	OMIM:114550
HP:0001394	Cirrhosis	11277	TREX1	OMIM:192315
HP:0001394	Cirrhosis	51099	ABHD5	ORPHA:98907
HP:0001394	Cirrhosis	84936	ZFYVE19	OMIM:619849
HP:0001394	Cirrhosis	383	ARG1	OMIM:207800
HP:0001394	Cirrhosis	9371	KIF3B	OMIM:618955
HP:0001394	Cirrhosis	55768	NGLY1	ORPHA:404454
HP:0001394	Cirrhosis	1716	DGUOK	OMIM:251880
HP:0001394	Cirrhosis	5557	PRIM1	OMIM:620005
HP:0001395	Hepatic fibrosis	435	ASL	ORPHA:23
HP:0001395	Hepatic fibrosis	435	ASL	OMIM:207900
HP:0001395	Hepatic fibrosis	3376	IARS1	OMIM:617093
HP:0001395	Hepatic fibrosis	3376	IARS1	ORPHA:541423
HP:0001395	Hepatic fibrosis	4750	NEK1	OMIM:263520
HP:0001395	Hepatic fibrosis	26160	IFT172	OMIM:615630
HP:0001395	Hepatic fibrosis	26160	IFT172	ORPHA:110
HP:0001395	Hepatic fibrosis	56623	INPP5E	OMIM:213300
HP:0001395	Hepatic fibrosis	5314	PKHD1	ORPHA:53035
HP:0001395	Hepatic fibrosis	5314	PKHD1	OMIM:263200
HP:0001395	Hepatic fibrosis	5314	PKHD1	ORPHA:731
HP:0001395	Hepatic fibrosis	91147	TMEM67	OMIM:216360
HP:0001395	Hepatic fibrosis	91147	TMEM67	OMIM:607361
HP:0001395	Hepatic fibrosis	91147	TMEM67	ORPHA:84081
HP:0001395	Hepatic fibrosis	91147	TMEM67	OMIM:613550
HP:0001395	Hepatic fibrosis	91147	TMEM67	OMIM:610688
HP:0001395	Hepatic fibrosis	4233	MET	ORPHA:33402
HP:0001395	Hepatic fibrosis	1499	CTNNB1	ORPHA:33402
HP:0001395	Hepatic fibrosis	197131	UBR1	OMIM:243800
HP:0001395	Hepatic fibrosis	4141	MARS1	OMIM:615486
HP:0001395	Hepatic fibrosis	5244	ABCB4	OMIM:600803
HP:0001395	Hepatic fibrosis	169792	GLIS3	OMIM:610199
HP:0001395	Hepatic fibrosis	51473	DCDC2	OMIM:616217
HP:0001395	Hepatic fibrosis	51473	DCDC2	ORPHA:84081
HP:0001395	Hepatic fibrosis	7015	TERT	OMIM:613989
HP:0001395	Hepatic fibrosis	10165	SLC25A13	OMIM:603471
HP:0001395	Hepatic fibrosis	10165	SLC25A13	ORPHA:247585
HP:0001395	Hepatic fibrosis	427	ASAH1	ORPHA:333
HP:0001395	Hepatic fibrosis	2859	GPR35	ORPHA:171
HP:0001395	Hepatic fibrosis	10507	SEMA4D	ORPHA:171
HP:0001395	Hepatic fibrosis	4485	MST1	ORPHA:171
HP:0001395	Hepatic fibrosis	6925	TCF4	ORPHA:171
HP:0001395	Hepatic fibrosis	537	ATP6AP1	OMIM:300972
HP:0001395	Hepatic fibrosis	3643	INSR	OMIM:246200
HP:0001395	Hepatic fibrosis	1777	DNASE2	OMIM:619858
HP:0001395	Hepatic fibrosis	54567	DLL4	OMIM:616589
HP:0001395	Hepatic fibrosis	3988	LIPA	OMIM:278000
HP:0001395	Hepatic fibrosis	10616	RBCK1	OMIM:615895
HP:0001395	Hepatic fibrosis	84100	ARL6	OMIM:209900
HP:0001395	Hepatic fibrosis	84100	ARL6	ORPHA:110
HP:0001395	Hepatic fibrosis	79140	CCDC28B	OMIM:209900
HP:0001395	Hepatic fibrosis	582	BBS1	OMIM:209900
HP:0001395	Hepatic fibrosis	582	BBS1	ORPHA:110
HP:0001395	Hepatic fibrosis	284086	NEK8	OMIM:615415
HP:0001395	Hepatic fibrosis	5257	PHKB	ORPHA:79240
HP:0001395	Hepatic fibrosis	26146	TRAF3IP1	OMIM:616629
HP:0001395	Hepatic fibrosis	55764	IFT122	OMIM:218330
HP:0001395	Hepatic fibrosis	4547	MTTP	ORPHA:14
HP:0001395	Hepatic fibrosis	8772	FADD	ORPHA:306550
HP:0001395	Hepatic fibrosis	6811	STX5	OMIM:620454
HP:0001395	Hepatic fibrosis	27031	NPHP3	OMIM:604387
HP:0001395	Hepatic fibrosis	27031	NPHP3	OMIM:208540
HP:0001395	Hepatic fibrosis	1174	AP1S1	OMIM:609313
HP:0001395	Hepatic fibrosis	5373	PMM2	OMIM:212065
HP:0001395	Hepatic fibrosis	5373	PMM2	ORPHA:79318
HP:0001395	Hepatic fibrosis	7840	ALMS1	ORPHA:64
HP:0001395	Hepatic fibrosis	92482	BBIP1	ORPHA:110
HP:0001395	Hepatic fibrosis	80184	CEP290	ORPHA:110
HP:0001395	Hepatic fibrosis	11020	IFT27	ORPHA:110
HP:0001395	Hepatic fibrosis	49855	SCAPER	ORPHA:110
HP:0001395	Hepatic fibrosis	4867	NPHP1	ORPHA:110
HP:0001395	Hepatic fibrosis	51057	WDPCP	ORPHA:110
HP:0001395	Hepatic fibrosis	132320	SCLT1	ORPHA:110
HP:0001395	Hepatic fibrosis	27241	BBS9	ORPHA:110
HP:0001395	Hepatic fibrosis	84984	CEP19	ORPHA:110
HP:0001395	Hepatic fibrosis	22954	TRIM32	ORPHA:110
HP:0001395	Hepatic fibrosis	54903	MKS1	ORPHA:110
HP:0001395	Hepatic fibrosis	79738	BBS10	ORPHA:110
HP:0001395	Hepatic fibrosis	123016	TTC8	ORPHA:110
HP:0001395	Hepatic fibrosis	583	BBS2	ORPHA:110
HP:0001395	Hepatic fibrosis	585	BBS4	ORPHA:110
HP:0001395	Hepatic fibrosis	8195	MKKS	ORPHA:110
HP:0001395	Hepatic fibrosis	54585	LZTFL1	ORPHA:110
HP:0001395	Hepatic fibrosis	55212	BBS7	ORPHA:110
HP:0001395	Hepatic fibrosis	166379	BBS12	ORPHA:110
HP:0001395	Hepatic fibrosis	10806	SDCCAG8	ORPHA:110
HP:0001395	Hepatic fibrosis	157657	CFAP418	ORPHA:110
HP:0001395	Hepatic fibrosis	129880	BBS5	ORPHA:110
HP:0001395	Hepatic fibrosis	80173	IFT74	ORPHA:110
HP:0001395	Hepatic fibrosis	55768	NGLY1	OMIM:615273
HP:0001395	Hepatic fibrosis	3043	HBB	ORPHA:231214
HP:0001395	Hepatic fibrosis	3043	HBB	ORPHA:231226
HP:0001395	Hepatic fibrosis	57545	CC2D2A	OMIM:612285
HP:0001395	Hepatic fibrosis	57545	CC2D2A	OMIM:619111
HP:0001395	Hepatic fibrosis	57545	CC2D2A	OMIM:612284
HP:0001395	Hepatic fibrosis	55505	NOP10	OMIM:224230
HP:0001395	Hepatic fibrosis	55651	NHP2	OMIM:224230
HP:0001395	Hepatic fibrosis	79770	TXNDC15	OMIM:619879
HP:0001395	Hepatic fibrosis	5346	PLIN1	ORPHA:280356
HP:0001395	Hepatic fibrosis	3594	IL12RB1	ORPHA:186
HP:0001395	Hepatic fibrosis	23534	TNPO3	ORPHA:186
HP:0001395	Hepatic fibrosis	3592	IL12A	ORPHA:186
HP:0001395	Hepatic fibrosis	6689	SPIB	ORPHA:186
HP:0001395	Hepatic fibrosis	5450	POU2AF1	ORPHA:186
HP:0001395	Hepatic fibrosis	9966	TNFSF15	ORPHA:186
HP:0001395	Hepatic fibrosis	79258	MMEL1	ORPHA:186
HP:0001395	Hepatic fibrosis	3663	IRF5	ORPHA:186
HP:0001395	Hepatic fibrosis	100147744	RNU7-1	OMIM:619487
HP:0001395	Hepatic fibrosis	79991	STN1	OMIM:617341
HP:0001395	Hepatic fibrosis	5189	PEX1	OMIM:601539
HP:0001395	Hepatic fibrosis	1356	CP	ORPHA:48818
HP:0001395	Hepatic fibrosis	8481	OFD1	OMIM:311200
HP:0001395	Hepatic fibrosis	9371	KIF3B	OMIM:618955
HP:0001395	Hepatic fibrosis	199221	DZIP1L	ORPHA:731
HP:0001395	Hepatic fibrosis	9968	MED12	OMIM:301068
HP:0001395	Hepatic fibrosis	9076	CLDN1	OMIM:607626
HP:0001395	Hepatic fibrosis	4351	MPI	ORPHA:79319
HP:0001395	Hepatic fibrosis	4351	MPI	OMIM:602579
HP:0001395	Hepatic fibrosis	51651	PTRH2	OMIM:616263
HP:0001395	Hepatic fibrosis	2819	GPD1	OMIM:614480
HP:0001395	Hepatic fibrosis	55898	UNC45A	OMIM:619377
HP:0001395	Hepatic fibrosis	2629	GBA1	ORPHA:2072
HP:0001395	Hepatic fibrosis	79989	IFT56	OMIM:619534
HP:0001395	Hepatic fibrosis	9652	SKIC3	OMIM:222470
HP:0001395	Hepatic fibrosis	9652	SKIC3	ORPHA:84064
HP:0001395	Hepatic fibrosis	178	AGL	OMIM:232400
HP:0001395	Hepatic fibrosis	57817	HAMP	OMIM:613313
HP:0001395	Hepatic fibrosis	5557	PRIM1	OMIM:620005
HP:0001395	Hepatic fibrosis	54532	USP53	OMIM:619658
HP:0001395	Hepatic fibrosis	147007	TMEM199	OMIM:616829
HP:0001395	Hepatic fibrosis	57410	SCYL1	ORPHA:466794
HP:0001395	Hepatic fibrosis	57410	SCYL1	OMIM:616719
HP:0001395	Hepatic fibrosis	8813	DPM1	ORPHA:79322
HP:0001395	Hepatic fibrosis	5836	PYGL	ORPHA:369
HP:0001395	Hepatic fibrosis	57539	WDR35	OMIM:614091
HP:0001395	Hepatic fibrosis	9742	IFT140	OMIM:266920
HP:0001395	Hepatic fibrosis	5825	ABCD3	OMIM:616278
HP:0001395	Hepatic fibrosis	5256	PHKA2	ORPHA:264580
HP:0001395	Hepatic fibrosis	5261	PHKG2	ORPHA:264580
HP:0001395	Hepatic fibrosis	113220	KIF12	OMIM:619662
HP:0001395	Hepatic fibrosis	6499	SKIC2	ORPHA:84064
HP:0001395	Hepatic fibrosis	4067	LYN	OMIM:620376
HP:0001395	Hepatic fibrosis	6888	TALDO1	OMIM:606003
HP:0001395	Hepatic fibrosis	6309	SC5D	OMIM:607330
HP:0001395	Hepatic fibrosis	79796	ALG9	ORPHA:79328
HP:0001395	Hepatic fibrosis	79796	ALG9	OMIM:263210
HP:0001395	Hepatic fibrosis	123264	SLC51B	OMIM:619481
HP:0001395	Hepatic fibrosis	203286	ANKS6	OMIM:615382
HP:0001395	Hepatic fibrosis	37	ACADVL	OMIM:201475
HP:0001395	Hepatic fibrosis	200931	SLC51A	OMIM:619484
HP:0001395	Hepatic fibrosis	4358	MPV17	OMIM:256810
HP:0001395	Hepatic fibrosis	617	BCS1L	OMIM:124000
HP:0001395	Hepatic fibrosis	1716	DGUOK	OMIM:251880
HP:0001395	Hepatic fibrosis	84314	TMEM107	ORPHA:564
HP:0001395	Hepatic fibrosis	26123	TCTN3	ORPHA:564
HP:0001395	Hepatic fibrosis	79867	TCTN2	ORPHA:564
HP:0001395	Hepatic fibrosis	80776	B9D2	ORPHA:564
HP:0001395	Hepatic fibrosis	79600	TCTN1	ORPHA:564
HP:0001395	Hepatic fibrosis	57096	RPGRIP1	ORPHA:564
HP:0001395	Hepatic fibrosis	79848	CSPP1	ORPHA:564
HP:0001395	Hepatic fibrosis	51259	TMEM216	ORPHA:564
HP:0001395	Hepatic fibrosis	79583	TMEM231	ORPHA:564
HP:0001395	Hepatic fibrosis	27077	B9D1	ORPHA:564
HP:0001395	Hepatic fibrosis	23322	RPGRIP1L	ORPHA:564
HP:0001395	Hepatic fibrosis	23322	RPGRIP1L	ORPHA:1454
HP:0001395	Hepatic fibrosis	65062	TMEM237	ORPHA:564
HP:0001395	Hepatic fibrosis	55112	DYNC2I1	ORPHA:93271
HP:0001395	Hepatic fibrosis	57560	IFT80	ORPHA:93271
HP:0001395	Hepatic fibrosis	79659	DYNC2H1	ORPHA:93271
HP:0001395	Hepatic fibrosis	89891	DYNC2I2	ORPHA:93271
HP:0001395	Hepatic fibrosis	10908	PNPLA6	ORPHA:2377
HP:0001395	Hepatic fibrosis	148738	HJV	ORPHA:79230
HP:0001395	Hepatic fibrosis	9657	IQCB1	ORPHA:3156
HP:0001395	Hepatic fibrosis	27130	INVS	ORPHA:3156
HP:0001395	Hepatic fibrosis	261734	NPHP4	ORPHA:3156
HP:0001395	Hepatic fibrosis	57728	WDR19	ORPHA:3156
HP:0001395	Hepatic fibrosis	22897	CEP164	ORPHA:3156
HP:0001395	Hepatic fibrosis	3516	RBPJ	ORPHA:974
HP:0001395	Hepatic fibrosis	4851	NOTCH1	ORPHA:974
HP:0001395	Hepatic fibrosis	57514	ARHGAP31	ORPHA:974
HP:0001395	Hepatic fibrosis	57572	DOCK6	ORPHA:974
HP:0001395	Hepatic fibrosis	285203	EOGT	ORPHA:974
HP:0001395	Hepatic fibrosis	7289	TULP3	OMIM:619902
HP:0001395	Hepatic fibrosis	9420	CYP7B1	OMIM:613812
HP:0001395	Hepatic fibrosis	60561	RINT1	OMIM:618641
HP:0001396	Cholestasis	3561	IL2RG	ORPHA:276
HP:0001396	Cholestasis	229	ALDOB	OMIM:229600
HP:0001396	Cholestasis	229	ALDOB	ORPHA:469
HP:0001396	Cholestasis	55532	SLC30A10	ORPHA:309854
HP:0001396	Cholestasis	3783	KCNN4	OMIM:616689
HP:0001396	Cholestasis	8573	CASK	OMIM:300908
HP:0001396	Cholestasis	2539	G6PD	OMIM:300908
HP:0001396	Cholestasis	3048	HBG2	OMIM:613977
HP:0001396	Cholestasis	5830	PEX5	OMIM:214110
HP:0001396	Cholestasis	5830	PEX5	ORPHA:912
HP:0001396	Cholestasis	80270	HSD3B7	ORPHA:79301
HP:0001396	Cholestasis	80270	HSD3B7	OMIM:607765
HP:0001396	Cholestasis	2038	EPB42	ORPHA:822
HP:0001396	Cholestasis	2038	EPB42	OMIM:612690
HP:0001396	Cholestasis	6521	SLC4A1	ORPHA:822
HP:0001396	Cholestasis	6521	SLC4A1	OMIM:612653
HP:0001396	Cholestasis	6710	SPTB	ORPHA:822
HP:0001396	Cholestasis	6710	SPTB	ORPHA:288
HP:0001396	Cholestasis	6710	SPTB	OMIM:616649
HP:0001396	Cholestasis	6708	SPTA1	ORPHA:822
HP:0001396	Cholestasis	6708	SPTA1	ORPHA:288
HP:0001396	Cholestasis	286	ANK1	ORPHA:822
HP:0001396	Cholestasis	286	ANK1	OMIM:182900
HP:0001396	Cholestasis	84936	ZFYVE19	OMIM:619849
HP:0001396	Cholestasis	54658	UGT1A1	OMIM:143500
HP:0001396	Cholestasis	54658	UGT1A1	OMIM:237900
HP:0001396	Cholestasis	54658	UGT1A1	OMIM:606785
HP:0001396	Cholestasis	54658	UGT1A1	OMIM:218800
HP:0001396	Cholestasis	6005	RHAG	OMIM:185000
HP:0001396	Cholestasis	6005	RHAG	ORPHA:71275
HP:0001396	Cholestasis	6005	RHAG	OMIM:268150
HP:0001396	Cholestasis	55687	TRMU	OMIM:613070
HP:0001396	Cholestasis	3043	HBB	OMIM:603903
HP:0001396	Cholestasis	3043	HBB	ORPHA:232
HP:0001396	Cholestasis	3043	HBB	ORPHA:231214
HP:0001396	Cholestasis	3043	HBB	ORPHA:231222
HP:0001396	Cholestasis	3043	HBB	ORPHA:231226
HP:0001396	Cholestasis	8942	KYNU	OMIM:236800
HP:0001396	Cholestasis	28234	SLCO1B3	OMIM:237450
HP:0001396	Cholestasis	28234	SLCO1B3	ORPHA:3111
HP:0001396	Cholestasis	10599	SLCO1B1	OMIM:237450
HP:0001396	Cholestasis	10599	SLCO1B1	ORPHA:3111
HP:0001396	Cholestasis	1716	DGUOK	OMIM:251880
HP:0001396	Cholestasis	2035	EPB41	ORPHA:288
HP:0001396	Cholestasis	2035	EPB41	OMIM:611804
HP:0001396	Cholestasis	2995	GYPC	ORPHA:288
HP:0001396	Cholestasis	1130	LYST	ORPHA:167
HP:0001396	Cholestasis	1130	LYST	OMIM:214500
HP:0001396	Cholestasis	5313	PKLR	OMIM:266200
HP:0001396	Cholestasis	63894	VIPAS39	OMIM:613404
HP:0001396	Cholestasis	4645	MYO5B	OMIM:619868
HP:0001396	Cholestasis	2313	FLI1	ORPHA:370348
HP:0001396	Cholestasis	1244	ABCC2	ORPHA:234
HP:0001396	Cholestasis	1244	ABCC2	OMIM:237500
HP:0001396	Cholestasis	51594	NBAS	OMIM:616483
HP:0001396	Cholestasis	5311	PKD2	OMIM:613095
HP:0001396	Cholestasis	54914	FOCAD	OMIM:619991
HP:0001396	Cholestasis	10068	IL18BP	OMIM:618549
HP:0001396	Cholestasis	540	ATP7B	ORPHA:905
HP:0001396	Cholestasis	540	ATP7B	OMIM:277900
HP:0001396	Cholestasis	2592	GALT	OMIM:230400
HP:0001396	Cholestasis	2592	GALT	ORPHA:79239
HP:0001396	Cholestasis	5428	POLG	OMIM:203700
HP:0001396	Cholestasis	5551	PRF1	OMIM:603553
HP:0001396	Cholestasis	5551	PRF1	ORPHA:540
HP:0001396	Cholestasis	8676	STX11	OMIM:603552
HP:0001396	Cholestasis	8676	STX11	ORPHA:540
HP:0001396	Cholestasis	5205	ATP8B1	ORPHA:69665
HP:0001396	Cholestasis	5205	ATP8B1	OMIM:211600
HP:0001396	Cholestasis	5205	ATP8B1	OMIM:147480
HP:0001396	Cholestasis	8647	ABCB11	ORPHA:69665
HP:0001396	Cholestasis	8647	ABCB11	OMIM:605479
HP:0001396	Cholestasis	9971	NR1H4	ORPHA:69665
HP:0001396	Cholestasis	9971	NR1H4	OMIM:617049
HP:0001396	Cholestasis	55670	PEX26	OMIM:614872
HP:0001396	Cholestasis	55670	PEX26	ORPHA:912
HP:0001396	Cholestasis	11231	SEC63	ORPHA:2924
HP:0001396	Cholestasis	5589	PRKCSH	ORPHA:2924
HP:0001396	Cholestasis	4041	LRP5	ORPHA:2924
HP:0001396	Cholestasis	9409	PEX16	OMIM:614876
HP:0001396	Cholestasis	9409	PEX16	ORPHA:912
HP:0001396	Cholestasis	2729	GCLC	ORPHA:33574
HP:0001396	Cholestasis	91949	COG7	ORPHA:79333
HP:0001396	Cholestasis	91949	COG7	OMIM:608779
HP:0001396	Cholestasis	811	CALR	ORPHA:131
HP:0001396	Cholestasis	3717	JAK2	ORPHA:131
HP:0001396	Cholestasis	2153	F5	ORPHA:131
HP:0001396	Cholestasis	11330	CTRC	ORPHA:103918
HP:0001396	Cholestasis	11330	CTRC	ORPHA:676
HP:0001396	Cholestasis	6690	SPINK1	ORPHA:103918
HP:0001396	Cholestasis	6690	SPINK1	ORPHA:676
HP:0001396	Cholestasis	5213	PFKM	OMIM:232800
HP:0001396	Cholestasis	5195	PEX14	OMIM:614887
HP:0001396	Cholestasis	5195	PEX14	ORPHA:912
HP:0001396	Cholestasis	29929	ALG6	ORPHA:79320
HP:0001396	Cholestasis	5825	ABCD3	OMIM:616278
HP:0001396	Cholestasis	27429	HTRA2	OMIM:617248
HP:0001396	Cholestasis	5824	PEX19	ORPHA:912
HP:0001396	Cholestasis	8504	PEX3	ORPHA:912
HP:0001396	Cholestasis	8799	PEX11B	ORPHA:912
HP:0001396	Cholestasis	5190	PEX6	ORPHA:912
HP:0001396	Cholestasis	5189	PEX1	ORPHA:912
HP:0001396	Cholestasis	5193	PEX12	ORPHA:912
HP:0001396	Cholestasis	5194	PEX13	ORPHA:912
HP:0001396	Cholestasis	5192	PEX10	ORPHA:912
HP:0001396	Cholestasis	6006	RHCE	ORPHA:71275
HP:0001396	Cholestasis	6007	RHD	ORPHA:71275
HP:0001396	Cholestasis	10159	ATP6AP2	OMIM:301045
HP:0001396	Cholestasis	3155	HMGCL	ORPHA:20
HP:0001396	Cholestasis	7167	TPI1	OMIM:615512
HP:0001396	Cholestasis	763	CA5A	OMIM:615751
HP:0001396	Cholestasis	84529	CDIN1	OMIM:615631
HP:0001396	Cholestasis	1798	DPAGT1	OMIM:608093
HP:0001396	Cholestasis	3875	KRT18	OMIM:215600
HP:0001396	Cholestasis	4023	LPL	OMIM:238600
HP:0001396	Cholestasis	9780	PIEZO1	OMIM:194380
HP:0001396	Cholestasis	201294	UNC13D	ORPHA:540
HP:0001396	Cholestasis	6813	STXBP2	ORPHA:540
HP:0001396	Cholestasis	672	BRCA1	ORPHA:70567
HP:0001396	Cholestasis	672	BRCA1	ORPHA:1333
HP:0001396	Cholestasis	675	BRCA2	ORPHA:70567
HP:0001396	Cholestasis	675	BRCA2	ORPHA:1333
HP:0001396	Cholestasis	5774	PTPN3	ORPHA:70567
HP:0001396	Cholestasis	6098	ROS1	ORPHA:70567
HP:0001396	Cholestasis	11093	ADAMTS13	OMIM:274150
HP:0001396	Cholestasis	6513	SLC2A1	OMIM:608885
HP:0001396	Cholestasis	6513	SLC2A1	ORPHA:168577
HP:0001396	Cholestasis	7849	PAX8	ORPHA:95720
HP:0001396	Cholestasis	7849	PAX8	ORPHA:95712
HP:0001396	Cholestasis	7253	TSHR	ORPHA:95720
HP:0001396	Cholestasis	5172	SLC26A4	ORPHA:95720
HP:0001396	Cholestasis	51218	GLRX5	OMIM:616860
HP:0001396	Cholestasis	2821	GPI	OMIM:613470
HP:0001396	Cholestasis	8260	NAA10	OMIM:300855
HP:0001396	Cholestasis	3431	SP110	ORPHA:79124
HP:0001396	Cholestasis	1482	NKX2-5	ORPHA:95712
HP:0001396	Cholestasis	5277	PIGA	ORPHA:447
HP:0001396	Cholestasis	7289	TULP3	OMIM:619902
HP:0001396	Cholestasis	285282	RABL3	ORPHA:1333
HP:0001396	Cholestasis	7157	TP53	ORPHA:1333
HP:0001396	Cholestasis	3845	KRAS	ORPHA:1333
HP:0001396	Cholestasis	1029	CDKN2A	ORPHA:1333
HP:0001396	Cholestasis	79728	PALB2	ORPHA:1333
HP:0001396	Cholestasis	4089	SMAD4	ORPHA:1333
HP:0001396	Cholestasis	23022	PALLD	ORPHA:1333
HP:0001396	Cholestasis	4548	MTR	OMIM:250940
HP:0001396	Cholestasis	84701	COX4I2	OMIM:612714
HP:0001396	Cholestasis	9493	KIF23	OMIM:105600
HP:0001396	Cholestasis	5873	RAB27A	ORPHA:79477
HP:0001396	Cholestasis	5644	PRSS1	ORPHA:676
HP:0001396	Cholestasis	5645	PRSS2	ORPHA:676
HP:0001396	Cholestasis	55503	TRPV6	ORPHA:676
HP:0001396	Cholestasis	846	CASR	ORPHA:676
HP:0001396	Cholestasis	1080	CFTR	ORPHA:676
HP:0001396	Cholestasis	1357	CPA1	ORPHA:676
HP:0001396	Cholestasis	9997	SCO2	OMIM:604377
HP:0001396	Cholestasis	570	BAAT	OMIM:619232
HP:0001396	Cholestasis	6711	SPTBN1	OMIM:619475
HP:0001396	Cholestasis	6928	HNF1B	ORPHA:93111
HP:0001396	Cholestasis	286410	ATP11C	OMIM:301015
HP:0001396	Cholestasis	3594	IL12RB1	ORPHA:186
HP:0001396	Cholestasis	23534	TNPO3	ORPHA:186
HP:0001396	Cholestasis	3592	IL12A	ORPHA:186
HP:0001396	Cholestasis	6689	SPIB	ORPHA:186
HP:0001396	Cholestasis	5450	POU2AF1	ORPHA:186
HP:0001396	Cholestasis	9966	TNFSF15	ORPHA:186
HP:0001396	Cholestasis	79258	MMEL1	ORPHA:186
HP:0001396	Cholestasis	3663	IRF5	ORPHA:186
HP:0001396	Cholestasis	10483	SEC23B	OMIM:224100
HP:0001396	Cholestasis	51124	IER3IP1	OMIM:614231
HP:0001396	Cholestasis	3098	HK1	OMIM:235700
HP:0001396	Cholestasis	226	ALDOA	OMIM:611881
HP:0001396	Cholestasis	100506658	OCLN	OMIM:251290
HP:0001396	Cholestasis	2215	FCGR3B	ORPHA:464370
HP:0001396	Cholestasis	10577	NPC2	OMIM:607625
HP:0001396	Cholestasis	7390	UROS	OMIM:263700
HP:0001396	Cholestasis	5449	POU1F1	OMIM:613038
HP:0001396	Cholestasis	25974	MMACHC	ORPHA:79282
HP:0001396	Cholestasis	1371	CPOX	OMIM:121300
HP:0001396	Cholestasis	1719	DHFR	OMIM:613839
HP:0001396	Cholestasis	9451	EIF2AK3	ORPHA:1667
HP:0001396	Cholestasis	37	ACADVL	ORPHA:26793
HP:0001396	Cholestasis	2110	ETFDH	OMIM:231680
HP:0001396	Cholestasis	2108	ETFA	OMIM:231680
HP:0001396	Cholestasis	2109	ETFB	OMIM:231680
HP:0001396	Cholestasis	3988	LIPA	ORPHA:75234
HP:0001396	Cholestasis	2582	GALE	OMIM:230350
HP:0001396	Cholestasis	538	ATP7A	ORPHA:198
HP:0001396	Cholestasis	5122	PCSK1	ORPHA:71528
HP:0001396	Cholestasis	222546	RFX6	OMIM:615710
HP:0001396	Cholestasis	26160	IFT172	OMIM:615630
HP:0001396	Cholestasis	132	ADK	OMIM:614300
HP:0001396	Cholestasis	5828	PEX2	OMIM:614866
HP:0001396	Cholestasis	85476	GFM1	OMIM:609060
HP:0001396	Cholestasis	57539	WDR35	OMIM:613610
HP:0001396	Cholestasis	5443	POMC	ORPHA:71526
HP:0001396	Cholestasis	5443	POMC	OMIM:609734
HP:0001396	Cholestasis	5265	SERPINA1	ORPHA:60
HP:0001396	Cholestasis	3032	HADHB	ORPHA:746
HP:0001396	Cholestasis	3030	HADHA	ORPHA:746
HP:0001396	Cholestasis	3030	HADHA	OMIM:609015
HP:0001396	Cholestasis	10056	FARSB	OMIM:613658
HP:0001396	Cholestasis	5314	PKHD1	ORPHA:53035
HP:0001396	Cholestasis	5314	PKHD1	ORPHA:731
HP:0001396	Cholestasis	9420	CYP7B1	ORPHA:79302
HP:0001396	Cholestasis	6718	AKR1D1	ORPHA:79303
HP:0001396	Cholestasis	215	ABCD1	ORPHA:369942
HP:0001396	Cholestasis	10134	BCAP31	ORPHA:369942
HP:0001396	Cholestasis	617	BCS1L	OMIM:603358
HP:0001396	Cholestasis	617	BCS1L	OMIM:124000
HP:0001396	Cholestasis	617	BCS1L	ORPHA:53693
HP:0001396	Cholestasis	9095	TBX19	OMIM:201400
HP:0001396	Cholestasis	374879	ZNF699	OMIM:619488
HP:0001396	Cholestasis	27031	NPHP3	OMIM:208540
HP:0001396	Cholestasis	27031	NPHP3	OMIM:267010
HP:0001396	Cholestasis	4141	MARS1	OMIM:615486
HP:0001396	Cholestasis	5244	ABCB4	OMIM:600803
HP:0001396	Cholestasis	6288	SAA1	ORPHA:85445
HP:0001396	Cholestasis	644	BLVRA	OMIM:614156
HP:0001396	Cholestasis	169792	GLIS3	OMIM:610199
HP:0001396	Cholestasis	51473	DCDC2	ORPHA:84081
HP:0001396	Cholestasis	51473	DCDC2	OMIM:616217
HP:0001396	Cholestasis	51473	DCDC2	OMIM:617394
HP:0001396	Cholestasis	91147	TMEM67	ORPHA:84081
HP:0001396	Cholestasis	182	JAG1	OMIM:118450
HP:0001396	Cholestasis	10165	SLC25A13	ORPHA:247598
HP:0001396	Cholestasis	23729	SHPK	ORPHA:440713
HP:0001396	Cholestasis	5573	PRKAR1A	ORPHA:615
HP:0001396	Cholestasis	9076	CLDN1	ORPHA:59303
HP:0001396	Cholestasis	9076	CLDN1	OMIM:607626
HP:0001396	Cholestasis	10551	AGR2	OMIM:620233
HP:0001396	Cholestasis	199221	DZIP1L	ORPHA:731
HP:0001396	Cholestasis	9968	MED12	OMIM:301068
HP:0001396	Cholestasis	55898	UNC45A	OMIM:619377
HP:0001396	Cholestasis	60561	RINT1	OMIM:618641
HP:0001396	Cholestasis	2859	GPR35	ORPHA:171
HP:0001396	Cholestasis	10507	SEMA4D	ORPHA:171
HP:0001396	Cholestasis	4485	MST1	ORPHA:171
HP:0001396	Cholestasis	6925	TCF4	ORPHA:171
HP:0001396	Cholestasis	79989	IFT56	OMIM:619534
HP:0001396	Cholestasis	3930	LBR	OMIM:613471
HP:0001396	Cholestasis	537	ATP6AP1	OMIM:300972
HP:0001396	Cholestasis	50619	DEF6	OMIM:619573
HP:0001396	Cholestasis	9652	SKIC3	OMIM:222470
HP:0001396	Cholestasis	7019	TFAM	OMIM:617156
HP:0001396	Cholestasis	3643	INSR	OMIM:246200
HP:0001396	Cholestasis	11232	POLG2	OMIM:618528
HP:0001396	Cholestasis	4358	MPV17	OMIM:256810
HP:0001396	Cholestasis	10616	RBCK1	OMIM:615895
HP:0001396	Cholestasis	130589	GALM	ORPHA:570422
HP:0001396	Cholestasis	383	ARG1	OMIM:207800
HP:0001396	Cholestasis	3376	IARS1	ORPHA:541423
HP:0001396	Cholestasis	54532	USP53	OMIM:619658
HP:0001396	Cholestasis	284086	NEK8	OMIM:615415
HP:0001396	Cholestasis	3295	HSD17B4	OMIM:261515
HP:0001396	Cholestasis	4853	NOTCH2	OMIM:610205
HP:0001396	Cholestasis	26146	TRAF3IP1	OMIM:616629
HP:0001396	Cholestasis	124454	EARS2	OMIM:614924
HP:0001396	Cholestasis	1581	CYP7A1	ORPHA:209902
HP:0001396	Cholestasis	2778	GNAS	ORPHA:562
HP:0001396	Cholestasis	203286	ANKS6	OMIM:615382
HP:0001396	Cholestasis	9742	IFT140	OMIM:266920
HP:0001396	Cholestasis	5256	PHKA2	ORPHA:264580
HP:0001396	Cholestasis	5261	PHKG2	ORPHA:264580
HP:0001396	Cholestasis	113220	KIF12	OMIM:619662
HP:0001396	Cholestasis	57511	COG6	OMIM:614576
HP:0001396	Cholestasis	51134	CEP83	OMIM:615862
HP:0001396	Cholestasis	2783	GNB2	OMIM:619503
HP:0001396	Cholestasis	79053	ALG8	OMIM:608104
HP:0001396	Cholestasis	6811	STX5	OMIM:620454
HP:0001396	Cholestasis	1174	AP1S1	OMIM:609313
HP:0001396	Cholestasis	4067	LYN	OMIM:620376
HP:0001396	Cholestasis	26276	VPS33B	OMIM:620010
HP:0001396	Cholestasis	2243	FGA	OMIM:105200
HP:0001396	Cholestasis	2271	FH	OMIM:606812
HP:0001396	Cholestasis	6309	SC5D	ORPHA:46059
HP:0001396	Cholestasis	6309	SC5D	OMIM:607330
HP:0001396	Cholestasis	9414	TJP2	OMIM:615878
HP:0001396	Cholestasis	5236	PGM1	OMIM:614921
HP:0001396	Cholestasis	23600	AMACR	OMIM:214950
HP:0001396	Cholestasis	197131	UBR1	OMIM:243800
HP:0001396	Cholestasis	55610	VPS50	OMIM:619685
HP:0001396	Cholestasis	6514	SLC2A2	OMIM:227810
HP:0001396	Cholestasis	162	AP1B1	ORPHA:171851
HP:0001396	Cholestasis	200931	SLC51A	OMIM:619484
HP:0001396	Cholestasis	1717	DHCR7	OMIM:270400
HP:0001396	Cholestasis	4072	EPCAM	ORPHA:92050
HP:0001396	Cholestasis	105371045	PERCC1	ORPHA:92050
HP:0001396	Cholestasis	50674	NEUROG3	ORPHA:83620
HP:0001396	Cholestasis	8565	YARS1	OMIM:619418
HP:0001396	Cholestasis	1777	DNASE2	OMIM:619858
HP:0001396	Cholestasis	84317	CCDC115	OMIM:616828
HP:0001396	Cholestasis	427	ASAH1	ORPHA:333
HP:0001396	Cholestasis	10664	CTCF	ORPHA:363611
HP:0001396	Cholestasis	23446	SLC44A1	OMIM:618868
HP:0001396	Cholestasis	5626	PROP1	ORPHA:226307
HP:0001396	Cholestasis	89884	LHX4	ORPHA:226307
HP:0001396	Cholestasis	8022	LHX3	ORPHA:226307
HP:0001396	Cholestasis	8820	HESX1	ORPHA:226307
HP:0001396	Cholestasis	1593	CYP27A1	ORPHA:909
HP:0001396	Cholestasis	100151683	RNU4ATAC	OMIM:210710
HP:0001396	Cholestasis	2584	GALK1	OMIM:230200
HP:0001396	Cholestasis	8405	SPOP	OMIM:618828
HP:0001396	Cholestasis	8085	KMT2D	OMIM:620186
HP:0001396	Cholestasis	6609	SMPD1	OMIM:257200
HP:0001396	Cholestasis	64324	NSD1	ORPHA:821
HP:0001396	Cholestasis	64324	NSD1	OMIM:117550
HP:0001396	Cholestasis	10297	APC2	ORPHA:821
HP:0001396	Cholestasis	123264	SLC51B	OMIM:619481
HP:0001396	Cholestasis	5631	PRPS1	ORPHA:423479
HP:0001396	Cholestasis	11277	TREX1	OMIM:225750
HP:0001396	Cholestasis	11277	TREX1	ORPHA:51
HP:0001396	Cholestasis	200894	ARL13B	OMIM:612291
HP:0001396	Cholestasis	10525	HYOU1	OMIM:233600
HP:0001396	Cholestasis	5184	PEPD	OMIM:170100
HP:0001396	Cholestasis	50506	DUOX2	ORPHA:226316
HP:0001396	Cholestasis	50506	DUOX2	ORPHA:95716
HP:0001396	Cholestasis	55904	KMT2E	OMIM:618512
HP:0001396	Cholestasis	2542	SLC37A4	OMIM:619525
HP:0001396	Cholestasis	25973	PARS2	OMIM:618437
HP:0001396	Cholestasis	7252	TSHB	ORPHA:90674
HP:0001396	Cholestasis	6554	SLC10A1	OMIM:619256
HP:0001396	Cholestasis	405753	DUOXA2	ORPHA:95716
HP:0001396	Cholestasis	6528	SLC5A5	ORPHA:95716
HP:0001396	Cholestasis	7038	TG	ORPHA:95716
HP:0001396	Cholestasis	7173	TPO	ORPHA:95716
HP:0001396	Cholestasis	389434	IYD	ORPHA:95716
HP:0001396	Cholestasis	7080	NKX2-1	ORPHA:95713
HP:0001396	Cholestasis	2304	FOXE1	ORPHA:95713
HP:0001396	Cholestasis	4864	NPC1	OMIM:257220
HP:0001396	Cholestasis	7201	TRHR	ORPHA:99832
HP:0001396	Cholestasis	6567	SLC16A2	ORPHA:59
HP:0001396	Cholestasis	2688	GH1	OMIM:262400
HP:0001396	Cholestasis	146059	CDAN1	OMIM:224120
HP:0001396	Cholestasis	10535	RNASEH2A	ORPHA:51
HP:0001396	Cholestasis	84153	RNASEH2C	ORPHA:51
HP:0001396	Cholestasis	25939	SAMHD1	ORPHA:51
HP:0001396	Cholestasis	79621	RNASEH2B	ORPHA:51
HP:0001396	Cholestasis	103	ADAR	ORPHA:51
HP:0001396	Cholestasis	100147744	RNU7-1	ORPHA:51
HP:0001396	Cholestasis	134353	LSM11	ORPHA:51
HP:0001396	Cholestasis	64135	IFIH1	ORPHA:51
HP:0001396	Cholestasis	1027	CDKN1B	ORPHA:276152
HP:0001397	Hepatic steatosis	10159	ATP6AP2	OMIM:301045
HP:0001397	Hepatic steatosis	3376	IARS1	OMIM:617093
HP:0001397	Hepatic steatosis	3376	IARS1	ORPHA:541423
HP:0001397	Hepatic steatosis	286053	NSMCE2	OMIM:617253
HP:0001397	Hepatic steatosis	286053	NSMCE2	ORPHA:436182
HP:0001397	Hepatic steatosis	229	ALDOB	OMIM:229600
HP:0001397	Hepatic steatosis	3033	HADH	OMIM:231530
HP:0001397	Hepatic steatosis	3033	HADH	ORPHA:71212
HP:0001397	Hepatic steatosis	11020	IFT27	OMIM:615996
HP:0001397	Hepatic steatosis	11020	IFT27	ORPHA:110
HP:0001397	Hepatic steatosis	132	ADK	OMIM:614300
HP:0001397	Hepatic steatosis	60684	TRAPPC11	OMIM:615356
HP:0001397	Hepatic steatosis	60684	TRAPPC11	ORPHA:369840
HP:0001397	Hepatic steatosis	1355	COX15	OMIM:615119
HP:0001397	Hepatic steatosis	63924	CIDEC	OMIM:615238
HP:0001397	Hepatic steatosis	63924	CIDEC	ORPHA:435651
HP:0001397	Hepatic steatosis	857	CAV1	OMIM:612526
HP:0001397	Hepatic steatosis	857	CAV1	ORPHA:528
HP:0001397	Hepatic steatosis	81570	CLPB	ORPHA:445038
HP:0001397	Hepatic steatosis	81570	CLPB	OMIM:616271
HP:0001397	Hepatic steatosis	51099	ABHD5	OMIM:275630
HP:0001397	Hepatic steatosis	51099	ABHD5	ORPHA:98907
HP:0001397	Hepatic steatosis	6718	AKR1D1	ORPHA:79303
HP:0001397	Hepatic steatosis	80222	TARS2	OMIM:615918
HP:0001397	Hepatic steatosis	26580	BSCL2	ORPHA:363400
HP:0001397	Hepatic steatosis	26580	BSCL2	OMIM:269700
HP:0001397	Hepatic steatosis	26580	BSCL2	ORPHA:528
HP:0001397	Hepatic steatosis	6341	SCO1	OMIM:619048
HP:0001397	Hepatic steatosis	5728	PTEN	ORPHA:210548
HP:0001397	Hepatic steatosis	220296	HEPACAM	ORPHA:210548
HP:0001397	Hepatic steatosis	4141	MARS1	OMIM:615486
HP:0001397	Hepatic steatosis	8882	ZPR1	OMIM:619321
HP:0001397	Hepatic steatosis	30061	SLC40A1	OMIM:606069
HP:0001397	Hepatic steatosis	348	APOE	ORPHA:412
HP:0001397	Hepatic steatosis	10165	SLC25A13	OMIM:603471
HP:0001397	Hepatic steatosis	10165	SLC25A13	ORPHA:247598
HP:0001397	Hepatic steatosis	10165	SLC25A13	ORPHA:247585
HP:0001397	Hepatic steatosis	2542	SLC37A4	ORPHA:79259
HP:0001397	Hepatic steatosis	2542	SLC37A4	OMIM:619525
HP:0001397	Hepatic steatosis	3949	LDLR	ORPHA:391665
HP:0001397	Hepatic steatosis	255738	PCSK9	ORPHA:391665
HP:0001397	Hepatic steatosis	26119	LDLRAP1	ORPHA:391665
HP:0001397	Hepatic steatosis	338	APOB	ORPHA:391665
HP:0001397	Hepatic steatosis	64240	ABCG5	ORPHA:391665
HP:0001397	Hepatic steatosis	64241	ABCG8	ORPHA:391665
HP:0001397	Hepatic steatosis	60561	RINT1	OMIM:618641
HP:0001397	Hepatic steatosis	4358	MPV17	OMIM:618400
HP:0001397	Hepatic steatosis	4358	MPV17	OMIM:256810
HP:0001397	Hepatic steatosis	537	ATP6AP1	OMIM:300972
HP:0001397	Hepatic steatosis	34	ACADM	OMIM:201450
HP:0001397	Hepatic steatosis	34	ACADM	ORPHA:42
HP:0001397	Hepatic steatosis	5105	PCK1	OMIM:261680
HP:0001397	Hepatic steatosis	50619	DEF6	OMIM:619573
HP:0001397	Hepatic steatosis	3988	LIPA	OMIM:278000
HP:0001397	Hepatic steatosis	26007	TKFC	OMIM:618805
HP:0001397	Hepatic steatosis	5468	PPARG	ORPHA:79083
HP:0001397	Hepatic steatosis	5468	PPARG	OMIM:604367
HP:0001397	Hepatic steatosis	5468	PPARG	ORPHA:528
HP:0001397	Hepatic steatosis	4000	LMNA	ORPHA:79084
HP:0001397	Hepatic steatosis	4000	LMNA	OMIM:151660
HP:0001397	Hepatic steatosis	4000	LMNA	ORPHA:79474
HP:0001397	Hepatic steatosis	4000	LMNA	ORPHA:280365
HP:0001397	Hepatic steatosis	4000	LMNA	ORPHA:2348
HP:0001397	Hepatic steatosis	208	AKT2	ORPHA:79085
HP:0001397	Hepatic steatosis	5346	PLIN1	OMIM:613877
HP:0001397	Hepatic steatosis	5346	PLIN1	ORPHA:280356
HP:0001397	Hepatic steatosis	84823	LMNB2	ORPHA:79087
HP:0001397	Hepatic steatosis	84823	LMNB2	OMIM:608709
HP:0001397	Hepatic steatosis	7840	ALMS1	OMIM:203800
HP:0001397	Hepatic steatosis	7840	ALMS1	ORPHA:64
HP:0001397	Hepatic steatosis	11145	PLAAT3	OMIM:620683
HP:0001397	Hepatic steatosis	1581	CYP7A1	ORPHA:209902
HP:0001397	Hepatic steatosis	1716	DGUOK	OMIM:251880
HP:0001397	Hepatic steatosis	10555	AGPAT2	OMIM:608594
HP:0001397	Hepatic steatosis	10555	AGPAT2	ORPHA:528
HP:0001397	Hepatic steatosis	5130	PCYT1A	OMIM:620680
HP:0001397	Hepatic steatosis	3158	HMGCS2	OMIM:605911
HP:0001397	Hepatic steatosis	1717	DHCR7	OMIM:270400
HP:0001397	Hepatic steatosis	4547	MTTP	ORPHA:14
HP:0001397	Hepatic steatosis	6899	TBX1	OMIM:188400
HP:0001397	Hepatic steatosis	5424	POLD1	OMIM:615381
HP:0001397	Hepatic steatosis	8802	SUCLG1	ORPHA:17
HP:0001397	Hepatic steatosis	5277	PIGA	OMIM:300868
HP:0001397	Hepatic steatosis	84984	CEP19	OMIM:615703
HP:0001397	Hepatic steatosis	84984	CEP19	ORPHA:110
HP:0001397	Hepatic steatosis	2783	GNB2	OMIM:619503
HP:0001397	Hepatic steatosis	28976	ACAD9	ORPHA:99901
HP:0001397	Hepatic steatosis	5373	PMM2	OMIM:212065
HP:0001397	Hepatic steatosis	1588	CYP19A1	ORPHA:91
HP:0001397	Hepatic steatosis	92482	BBIP1	ORPHA:110
HP:0001397	Hepatic steatosis	80184	CEP290	ORPHA:110
HP:0001397	Hepatic steatosis	582	BBS1	ORPHA:110
HP:0001397	Hepatic steatosis	49855	SCAPER	ORPHA:110
HP:0001397	Hepatic steatosis	4867	NPHP1	ORPHA:110
HP:0001397	Hepatic steatosis	51057	WDPCP	ORPHA:110
HP:0001397	Hepatic steatosis	132320	SCLT1	ORPHA:110
HP:0001397	Hepatic steatosis	27241	BBS9	ORPHA:110
HP:0001397	Hepatic steatosis	22954	TRIM32	ORPHA:110
HP:0001397	Hepatic steatosis	54903	MKS1	ORPHA:110
HP:0001397	Hepatic steatosis	79738	BBS10	ORPHA:110
HP:0001397	Hepatic steatosis	123016	TTC8	ORPHA:110
HP:0001397	Hepatic steatosis	26160	IFT172	ORPHA:110
HP:0001397	Hepatic steatosis	583	BBS2	ORPHA:110
HP:0001397	Hepatic steatosis	585	BBS4	ORPHA:110
HP:0001397	Hepatic steatosis	8195	MKKS	ORPHA:110
HP:0001397	Hepatic steatosis	54585	LZTFL1	ORPHA:110
HP:0001397	Hepatic steatosis	55212	BBS7	ORPHA:110
HP:0001397	Hepatic steatosis	166379	BBS12	ORPHA:110
HP:0001397	Hepatic steatosis	10806	SDCCAG8	ORPHA:110
HP:0001397	Hepatic steatosis	157657	CFAP418	ORPHA:110
HP:0001397	Hepatic steatosis	84100	ARL6	ORPHA:110
HP:0001397	Hepatic steatosis	129880	BBS5	ORPHA:110
HP:0001397	Hepatic steatosis	80173	IFT74	ORPHA:110
HP:0001397	Hepatic steatosis	37	ACADVL	OMIM:201475
HP:0001397	Hepatic steatosis	54914	FOCAD	OMIM:619991
HP:0001397	Hepatic steatosis	11222	MRPL3	OMIM:614582
HP:0001397	Hepatic steatosis	6711	SPTBN1	OMIM:619475
HP:0001397	Hepatic steatosis	3991	LIPE	ORPHA:435660
HP:0001397	Hepatic steatosis	3991	LIPE	OMIM:615980
HP:0001397	Hepatic steatosis	51520	LARS1	OMIM:615438
HP:0001397	Hepatic steatosis	788	SLC25A20	OMIM:212138
HP:0001397	Hepatic steatosis	540	ATP7B	ORPHA:905
HP:0001397	Hepatic steatosis	540	ATP7B	OMIM:277900
HP:0001397	Hepatic steatosis	5590	PRKCZ	ORPHA:1606
HP:0001397	Hepatic steatosis	2563	GABRD	ORPHA:1606
HP:0001397	Hepatic steatosis	23013	SPEN	ORPHA:1606
HP:0001397	Hepatic steatosis	8510	MMP23B	ORPHA:1606
HP:0001397	Hepatic steatosis	7798	LUZP1	ORPHA:1606
HP:0001397	Hepatic steatosis	6497	SKI	ORPHA:1606
HP:0001397	Hepatic steatosis	10630	PDPN	ORPHA:1606
HP:0001397	Hepatic steatosis	3339	HSPG2	ORPHA:1606
HP:0001397	Hepatic steatosis	10277	UBE4B	ORPHA:1606
HP:0001397	Hepatic steatosis	8514	KCNAB2	ORPHA:1606
HP:0001397	Hepatic steatosis	473	RERE	ORPHA:1606
HP:0001397	Hepatic steatosis	63976	PRDM16	ORPHA:1606
HP:0001397	Hepatic steatosis	54897	CASZ1	ORPHA:1606
HP:0001397	Hepatic steatosis	10056	FARSB	OMIM:613658
HP:0001397	Hepatic steatosis	6928	HNF1B	ORPHA:93111
HP:0001397	Hepatic steatosis	10128	LRPPRC	ORPHA:70472
HP:0001397	Hepatic steatosis	2203	FBP1	ORPHA:348
HP:0001397	Hepatic steatosis	100147744	RNU7-1	OMIM:619487
HP:0001397	Hepatic steatosis	5106	PCK2	OMIM:261650
HP:0001397	Hepatic steatosis	79798	ARMC5	ORPHA:189427
HP:0001397	Hepatic steatosis	23028	KDM1A	ORPHA:189427
HP:0001397	Hepatic steatosis	2778	GNAS	ORPHA:189427
HP:0001397	Hepatic steatosis	641	BLM	OMIM:210900
HP:0001397	Hepatic steatosis	64135	IFIH1	OMIM:615846
HP:0001397	Hepatic steatosis	51703	ACSL5	OMIM:620357
HP:0001397	Hepatic steatosis	7518	XRCC4	ORPHA:436182
HP:0001397	Hepatic steatosis	51128	SAR1B	ORPHA:71
HP:0001397	Hepatic steatosis	11128	POLR3A	ORPHA:3455
HP:0001397	Hepatic steatosis	617	BCS1L	OMIM:124000
HP:0001397	Hepatic steatosis	617	BCS1L	ORPHA:53693
HP:0001397	Hepatic steatosis	3178	HNRNPA1	ORPHA:52430
HP:0001397	Hepatic steatosis	7415	VCP	ORPHA:52430
HP:0001397	Hepatic steatosis	3181	HNRNPA2B1	ORPHA:52430
HP:0001397	Hepatic steatosis	57104	PNPLA2	OMIM:610717
HP:0001397	Hepatic steatosis	57104	PNPLA2	ORPHA:98908
HP:0001397	Hepatic steatosis	1650	DDOST	ORPHA:300536
HP:0001397	Hepatic steatosis	51651	PTRH2	OMIM:616263
HP:0001397	Hepatic steatosis	2819	GPD1	OMIM:614480
HP:0001397	Hepatic steatosis	51081	MRPS7	OMIM:617872
HP:0001397	Hepatic steatosis	2193	FARSA	OMIM:619013
HP:0001397	Hepatic steatosis	8565	YARS1	OMIM:619418
HP:0001397	Hepatic steatosis	1374	CPT1A	OMIM:255120
HP:0001397	Hepatic steatosis	5236	PGM1	OMIM:614921
HP:0001397	Hepatic steatosis	55005	RMND1	OMIM:614922
HP:0001397	Hepatic steatosis	3295	HSD17B4	OMIM:261515
HP:0001397	Hepatic steatosis	9757	KMT2B	OMIM:619934
HP:0001397	Hepatic steatosis	147007	TMEM199	OMIM:616829
HP:0001397	Hepatic steatosis	875	CBS	OMIM:236200
HP:0001397	Hepatic steatosis	1376	CPT2	ORPHA:228305
HP:0001397	Hepatic steatosis	1376	CPT2	ORPHA:228308
HP:0001397	Hepatic steatosis	284119	CAVIN1	ORPHA:528
HP:0001397	Hepatic steatosis	284119	CAVIN1	OMIM:613327
HP:0001397	Hepatic steatosis	2353	FOS	ORPHA:528
HP:0001397	Hepatic steatosis	8813	DPM1	ORPHA:79322
HP:0001397	Hepatic steatosis	9054	NFS1	OMIM:619386
HP:0001397	Hepatic steatosis	5256	PHKA2	ORPHA:264580
HP:0001397	Hepatic steatosis	5261	PHKG2	ORPHA:264580
HP:0001397	Hepatic steatosis	35	ACADS	ORPHA:26792
HP:0001397	Hepatic steatosis	2110	ETFDH	OMIM:231680
HP:0001397	Hepatic steatosis	2108	ETFA	OMIM:231680
HP:0001397	Hepatic steatosis	2109	ETFB	OMIM:231680
HP:0001397	Hepatic steatosis	5428	POLG	ORPHA:298
HP:0001397	Hepatic steatosis	1890	TYMP	ORPHA:298
HP:0001397	Hepatic steatosis	3980	LIG3	ORPHA:298
HP:0001397	Hepatic steatosis	50484	RRM2B	ORPHA:298
HP:0001397	Hepatic steatosis	55687	TRMU	OMIM:613070
HP:0001397	Hepatic steatosis	51103	NDUFAF1	OMIM:618234
HP:0001397	Hepatic steatosis	10651	MTX2	OMIM:619127
HP:0001397	Hepatic steatosis	57128	LYRM4	OMIM:615595
HP:0001397	Hepatic steatosis	8260	NAA10	OMIM:300855
HP:0001397	Hepatic steatosis	125988	MICOS13	OMIM:618329
HP:0001397	Hepatic steatosis	65082	VPS33A	OMIM:617303
HP:0001397	Hepatic steatosis	1794	DOCK2	OMIM:616433
HP:0001397	Hepatic steatosis	124454	EARS2	OMIM:614924
HP:0001397	Hepatic steatosis	27183	VPS4A	OMIM:619273
HP:0001397	Hepatic steatosis	55898	UNC45A	OMIM:619377
HP:0001397	Hepatic steatosis	374354	NHLRC2	OMIM:618278
HP:0001397	Hepatic steatosis	65080	MRPL44	OMIM:615395
HP:0001397	Hepatic steatosis	79587	CARS2	OMIM:616672
HP:0001397	Hepatic steatosis	7019	TFAM	OMIM:617156
HP:0001397	Hepatic steatosis	11232	POLG2	OMIM:618528
HP:0001397	Hepatic steatosis	131118	DNAJC19	OMIM:610198
HP:0001397	Hepatic steatosis	131118	DNAJC19	ORPHA:66634
HP:0001397	Hepatic steatosis	54543	TOMM7	OMIM:620601
HP:0001397	Hepatic steatosis	55768	NGLY1	ORPHA:404454
HP:0001397	Hepatic steatosis	6584	SLC22A5	OMIM:212140
HP:0001397	Hepatic steatosis	51	ACOX1	OMIM:264470
HP:0001397	Hepatic steatosis	84334	COA8	ORPHA:436271
HP:0001397	Hepatic steatosis	3032	HADHB	ORPHA:746
HP:0001397	Hepatic steatosis	3030	HADHA	ORPHA:746
HP:0001397	Hepatic steatosis	56922	MCCC1	OMIM:210200
HP:0001399	Hepatic failure	435	ASL	ORPHA:23
HP:0001399	Hepatic failure	1374	CPT1A	ORPHA:156
HP:0001399	Hepatic failure	26191	PTPN22	ORPHA:397
HP:0001399	Hepatic failure	3106	HLA-B	ORPHA:397
HP:0001399	Hepatic failure	3123	HLA-DRB1	ORPHA:397
HP:0001399	Hepatic failure	3123	HLA-DRB1	ORPHA:797
HP:0001399	Hepatic failure	8974	P4HA2	ORPHA:397
HP:0001399	Hepatic failure	2235	FECH	OMIM:177000
HP:0001399	Hepatic failure	6309	SC5D	ORPHA:46059
HP:0001399	Hepatic failure	72	ACTG2	OMIM:619431
HP:0001399	Hepatic failure	2632	GBE1	OMIM:232500
HP:0001399	Hepatic failure	26160	IFT172	OMIM:615630
HP:0001399	Hepatic failure	9414	TJP2	OMIM:615878
HP:0001399	Hepatic failure	6261	RYR1	ORPHA:466650
HP:0001399	Hepatic failure	2629	GBA1	OMIM:608013
HP:0001399	Hepatic failure	2629	GBA1	ORPHA:77259
HP:0001399	Hepatic failure	9420	CYP7B1	ORPHA:79302
HP:0001399	Hepatic failure	9420	CYP7B1	OMIM:613812
HP:0001399	Hepatic failure	6718	AKR1D1	ORPHA:79303
HP:0001399	Hepatic failure	6718	AKR1D1	OMIM:235555
HP:0001399	Hepatic failure	5604	MAP2K1	ORPHA:389
HP:0001399	Hepatic failure	4893	NRAS	ORPHA:389
HP:0001399	Hepatic failure	673	BRAF	ORPHA:389
HP:0001399	Hepatic failure	5009	OTC	ORPHA:664
HP:0001399	Hepatic failure	4535	MT-ND1	ORPHA:255210
HP:0001399	Hepatic failure	4536	MT-ND2	ORPHA:255210
HP:0001399	Hepatic failure	4537	MT-ND3	ORPHA:255210
HP:0001399	Hepatic failure	4538	MT-ND4	ORPHA:255210
HP:0001399	Hepatic failure	4567	MT-TL1	ORPHA:255210
HP:0001399	Hepatic failure	4578	MT-TW	ORPHA:255210
HP:0001399	Hepatic failure	4577	MT-TV	ORPHA:255210
HP:0001399	Hepatic failure	4508	MT-ATP6	ORPHA:255210
HP:0001399	Hepatic failure	4540	MT-ND5	ORPHA:255210
HP:0001399	Hepatic failure	4541	MT-ND6	ORPHA:255210
HP:0001399	Hepatic failure	4566	MT-TK	ORPHA:255210
HP:0001399	Hepatic failure	197131	UBR1	OMIM:243800
HP:0001399	Hepatic failure	4141	MARS1	OMIM:615486
HP:0001399	Hepatic failure	4068	SH2D1A	OMIM:308240
HP:0001399	Hepatic failure	331	XIAP	OMIM:308240
HP:0001399	Hepatic failure	331	XIAP	ORPHA:538934
HP:0001399	Hepatic failure	10166	SLC25A15	ORPHA:415
HP:0001399	Hepatic failure	54658	UGT1A1	OMIM:143500
HP:0001399	Hepatic failure	2592	GALT	ORPHA:79239
HP:0001399	Hepatic failure	2165	F13B	ORPHA:331
HP:0001399	Hepatic failure	2162	F13A1	ORPHA:331
HP:0001399	Hepatic failure	427	ASAH1	ORPHA:333
HP:0001399	Hepatic failure	27235	COQ2	OMIM:607426
HP:0001399	Hepatic failure	6609	SMPD1	ORPHA:77293
HP:0001399	Hepatic failure	1738	DLD	ORPHA:2394
HP:0001399	Hepatic failure	51473	DCDC2	OMIM:617394
HP:0001399	Hepatic failure	5105	PCK1	OMIM:261680
HP:0001399	Hepatic failure	50619	DEF6	OMIM:619573
HP:0001399	Hepatic failure	7019	TFAM	OMIM:617156
HP:0001399	Hepatic failure	3988	LIPA	OMIM:278000
HP:0001399	Hepatic failure	3988	LIPA	ORPHA:75233
HP:0001399	Hepatic failure	3988	LIPA	ORPHA:75234
HP:0001399	Hepatic failure	4358	MPV17	OMIM:256810
HP:0001399	Hepatic failure	3376	IARS1	ORPHA:541423
HP:0001399	Hepatic failure	55764	IFT122	OMIM:218330
HP:0001399	Hepatic failure	1716	DGUOK	OMIM:251880
HP:0001399	Hepatic failure	5277	PIGA	OMIM:300868
HP:0001399	Hepatic failure	5277	PIGA	OMIM:301072
HP:0001399	Hepatic failure	9971	NR1H4	OMIM:617049
HP:0001399	Hepatic failure	25839	COG4	OMIM:613489
HP:0001399	Hepatic failure	6811	STX5	OMIM:620454
HP:0001399	Hepatic failure	788	SLC25A20	ORPHA:159
HP:0001399	Hepatic failure	56244	BTNL2	ORPHA:797
HP:0001399	Hepatic failure	8241	RBM10	OMIM:311900
HP:0001399	Hepatic failure	7840	ALMS1	ORPHA:64
HP:0001399	Hepatic failure	9056	SLC7A7	ORPHA:470
HP:0001399	Hepatic failure	80270	HSD3B7	OMIM:607765
HP:0001399	Hepatic failure	51241	COX16	OMIM:619355
HP:0001399	Hepatic failure	570	BAAT	OMIM:619232
HP:0001399	Hepatic failure	54914	FOCAD	OMIM:619991
HP:0001399	Hepatic failure	10068	IL18BP	OMIM:618549
HP:0001399	Hepatic failure	8364	H4C3	OMIM:619758
HP:0001399	Hepatic failure	5265	SERPINA1	ORPHA:60
HP:0001399	Hepatic failure	5428	POLG	OMIM:203700
HP:0001399	Hepatic failure	23600	AMACR	OMIM:214950
HP:0001399	Hepatic failure	378884	NHLRC1	ORPHA:501
HP:0001399	Hepatic failure	7957	EPM2A	ORPHA:501
HP:0001399	Hepatic failure	7957	EPM2A	OMIM:254780
HP:0001399	Hepatic failure	3594	IL12RB1	ORPHA:186
HP:0001399	Hepatic failure	23534	TNPO3	ORPHA:186
HP:0001399	Hepatic failure	3592	IL12A	ORPHA:186
HP:0001399	Hepatic failure	6689	SPIB	ORPHA:186
HP:0001399	Hepatic failure	5450	POU2AF1	ORPHA:186
HP:0001399	Hepatic failure	9966	TNFSF15	ORPHA:186
HP:0001399	Hepatic failure	79258	MMEL1	ORPHA:186
HP:0001399	Hepatic failure	3663	IRF5	ORPHA:186
HP:0001399	Hepatic failure	5106	PCK2	OMIM:261650
HP:0001399	Hepatic failure	50615	IL21R	OMIM:615207
HP:0001399	Hepatic failure	182	JAG1	OMIM:118450
HP:0001399	Hepatic failure	28976	ACAD9	OMIM:611126
HP:0001399	Hepatic failure	6514	SLC2A2	ORPHA:2088
HP:0001399	Hepatic failure	540	ATP7B	OMIM:277900
HP:0001399	Hepatic failure	2271	FH	OMIM:606812
HP:0001399	Hepatic failure	9968	MED12	OMIM:301068
HP:0001399	Hepatic failure	9076	CLDN1	OMIM:607626
HP:0001399	Hepatic failure	2658	GDF2	ORPHA:774
HP:0001399	Hepatic failure	94	ACVRL1	ORPHA:774
HP:0001399	Hepatic failure	4089	SMAD4	ORPHA:774
HP:0001399	Hepatic failure	2022	ENG	ORPHA:774
HP:0001399	Hepatic failure	4351	MPI	OMIM:602579
HP:0001399	Hepatic failure	51081	MRPS7	OMIM:617872
HP:0001399	Hepatic failure	9652	SKIC3	OMIM:222470
HP:0001399	Hepatic failure	4724	NDUFS4	OMIM:252010
HP:0001399	Hepatic failure	29960	MRM2	OMIM:618567
HP:0001399	Hepatic failure	5824	PEX19	OMIM:614886
HP:0001399	Hepatic failure	5824	PEX19	ORPHA:912
HP:0001399	Hepatic failure	84317	CCDC115	OMIM:616828
HP:0001399	Hepatic failure	2184	FAH	OMIM:276700
HP:0001399	Hepatic failure	25913	POT1	OMIM:620367
HP:0001399	Hepatic failure	1376	CPT2	ORPHA:228305
HP:0001399	Hepatic failure	1376	CPT2	ORPHA:228308
HP:0001399	Hepatic failure	28962	OSTM1	OMIM:259720
HP:0001399	Hepatic failure	546	ATRX	ORPHA:100075
HP:0001399	Hepatic failure	5825	ABCD3	OMIM:616278
HP:0001399	Hepatic failure	80169	CTC1	ORPHA:1775
HP:0001399	Hepatic failure	26277	TINF2	ORPHA:1775
HP:0001399	Hepatic failure	55651	NHP2	ORPHA:1775
HP:0001399	Hepatic failure	79650	USB1	ORPHA:1775
HP:0001399	Hepatic failure	55135	WRAP53	ORPHA:1775
HP:0001399	Hepatic failure	51750	RTEL1	ORPHA:1775
HP:0001399	Hepatic failure	4869	NPM1	ORPHA:1775
HP:0001399	Hepatic failure	7012	TERC	ORPHA:1775
HP:0001399	Hepatic failure	55505	NOP10	ORPHA:1775
HP:0001399	Hepatic failure	5073	PARN	ORPHA:1775
HP:0001399	Hepatic failure	7015	TERT	ORPHA:1775
HP:0001399	Hepatic failure	1736	DKC1	ORPHA:1775
HP:0001399	Hepatic failure	7298	TYMS	ORPHA:1775
HP:0001399	Hepatic failure	335	APOA1	OMIM:620657
HP:0001399	Hepatic failure	57410	SCYL1	OMIM:616719
HP:0001399	Hepatic failure	55670	PEX26	ORPHA:912
HP:0001399	Hepatic failure	5828	PEX2	ORPHA:912
HP:0001399	Hepatic failure	8504	PEX3	ORPHA:912
HP:0001399	Hepatic failure	8799	PEX11B	ORPHA:912
HP:0001399	Hepatic failure	9409	PEX16	ORPHA:912
HP:0001399	Hepatic failure	5190	PEX6	ORPHA:912
HP:0001399	Hepatic failure	5830	PEX5	ORPHA:912
HP:0001399	Hepatic failure	5189	PEX1	ORPHA:912
HP:0001399	Hepatic failure	5193	PEX12	ORPHA:912
HP:0001399	Hepatic failure	5194	PEX13	ORPHA:912
HP:0001399	Hepatic failure	5195	PEX14	ORPHA:912
HP:0001399	Hepatic failure	5192	PEX10	ORPHA:912
HP:0001399	Hepatic failure	950	SCARB2	ORPHA:77259
HP:0001399	Hepatic failure	11232	POLG2	OMIM:618528
HP:0001399	Hepatic failure	85476	GFM1	OMIM:609060
HP:0001399	Hepatic failure	3875	KRT18	OMIM:215600
HP:0001399	Hepatic failure	10320	IKZF1	ORPHA:36426
HP:0001399	Hepatic failure	811	CALR	ORPHA:131
HP:0001399	Hepatic failure	3717	JAK2	ORPHA:131
HP:0001399	Hepatic failure	2153	F5	ORPHA:131
HP:0001399	Hepatic failure	51594	NBAS	OMIM:616483
HP:0001399	Hepatic failure	55687	TRMU	OMIM:613070
HP:0001399	Hepatic failure	60561	RINT1	OMIM:618641
HP:0001399	Hepatic failure	2859	GPR35	ORPHA:171
HP:0001399	Hepatic failure	10507	SEMA4D	ORPHA:171
HP:0001399	Hepatic failure	4485	MST1	ORPHA:171
HP:0001399	Hepatic failure	6925	TCF4	ORPHA:171
HP:0001399	Hepatic failure	1537	CYC1	OMIM:615453
HP:0001399	Hepatic failure	64840	PORCN	ORPHA:2092
HP:0001399	Hepatic failure	51520	LARS1	OMIM:615438
HP:0001399	Hepatic failure	83737	ITCH	ORPHA:228426
HP:0001399	Hepatic failure	779	CACNA1S	ORPHA:423
HP:0001399	Hepatic failure	9451	EIF2AK3	ORPHA:1667
HP:0001399	Hepatic failure	4210	MEFV	ORPHA:342
HP:0001399	Hepatic failure	57169	ZNFX1	OMIM:619644
HP:0001399	Hepatic failure	3033	HADH	ORPHA:71212
HP:0001399	Hepatic failure	4864	NPC1	OMIM:257220
HP:0001399	Hepatic failure	4576	MT-TT	ORPHA:254857
HP:0001399	Hepatic failure	56623	INPP5E	ORPHA:1454
HP:0001399	Hepatic failure	91147	TMEM67	ORPHA:1454
HP:0001399	Hepatic failure	23322	RPGRIP1L	ORPHA:1454
HP:0001399	Hepatic failure	57545	CC2D2A	ORPHA:1454
HP:0001399	Hepatic failure	654	BMP6	ORPHA:465508
HP:0001399	Hepatic failure	3077	HFE	ORPHA:465508
HP:0001399	Hepatic failure	3032	HADHB	ORPHA:746
HP:0001399	Hepatic failure	3030	HADHA	ORPHA:746
HP:0001399	Hepatic failure	3431	SP110	ORPHA:79124
HP:0001399	Hepatic failure	229	ALDOB	ORPHA:469
HP:6000009	Cerebriform connective tissue nevus	207	AKT1	OMIM:176920
HP:6000015	Tympanic membrane hypermobility	1301	COL11A1	OMIM:604841
HP:6000021	Decreased circulating thrombopoietin concentration	7066	THPO	OMIM:620478
HP:6000025	Dark cerumen	3081	HGD	OMIM:203500
HP:6000027	Oil-drop brown pigmentation of the corneal limbus	3081	HGD	ORPHA:56
HP:6000029	Social anxiety	26834	RNU4-2	OMIM:620851
HP:6000031	Phaeohyphomycosis	64170	CARD9	OMIM:212050
HP:6000037	Reduced circulating aromatic L-amino acid decarboxylase activity	1644	DDC	OMIM:608643
HP:6000072	Thinning of outer muscular layer of small bowel	72	ACTG2	OMIM:155310
HP:6000082	Reduced hepatic beta-ureidopropionase activity	51733	UPB1	OMIM:613161
HP:6000083	Reduced hepatic dihydropyrimidinase activity	1807	DPYS	OMIM:222748
HP:6000088	Reduced muscle alpha-1,4-glucosidase activity	2548	GAA	OMIM:232300
HP:0007802	Granular corneal dystrophy	7045	TGFBI	OMIM:121900
HP:0007802	Granular corneal dystrophy	7045	TGFBI	ORPHA:98963
HP:0007803	Monochromacy	22926	ATF6	ORPHA:49382
HP:0007803	Monochromacy	5146	PDE6C	ORPHA:49382
HP:0007803	Monochromacy	6103	RPGR	ORPHA:49382
HP:0007803	Monochromacy	5149	PDE6H	ORPHA:49382
HP:0007803	Monochromacy	2780	GNAT2	ORPHA:49382
HP:0007803	Monochromacy	1261	CNGA3	ORPHA:49382
HP:0007803	Monochromacy	54714	CNGB3	ORPHA:49382
HP:0007803	Monochromacy	54714	CNGB3	OMIM:262300
HP:0007803	Monochromacy	26504	CNNM4	OMIM:217080
HP:0007803	Monochromacy	2652	OPN1MW	ORPHA:16
HP:0007803	Monochromacy	2652	OPN1MW	OMIM:303700
HP:0007803	Monochromacy	5956	OPN1LW	ORPHA:16
HP:0007803	Monochromacy	5956	OPN1LW	OMIM:303700
HP:0007803	Monochromacy	51594	NBAS	OMIM:614800
HP:0007807	Optic nerve compression	79639	TMEM53	OMIM:619727
HP:0007807	Optic nerve compression	8792	TNFRSF11A	OMIM:612301
HP:0007807	Optic nerve compression	84196	USP48	ORPHA:96253
HP:0007807	Optic nerve compression	7157	TP53	ORPHA:96253
HP:0007807	Optic nerve compression	9101	USP8	ORPHA:96253
HP:0007807	Optic nerve compression	64072	CDH23	ORPHA:96253
HP:0007807	Optic nerve compression	2908	NR3C1	ORPHA:96253
HP:0007807	Optic nerve compression	673	BRAF	ORPHA:96253
HP:0007807	Optic nerve compression	546	ATRX	ORPHA:96253
HP:0007807	Optic nerve compression	7040	TGFB1	ORPHA:1328
HP:0007807	Optic nerve compression	7040	TGFB1	OMIM:131300
HP:0007807	Optic nerve compression	760	CA2	OMIM:259730
HP:0007807	Optic nerve compression	10312	TCIRG1	ORPHA:667
HP:0007807	Optic nerve compression	1186	CLCN7	ORPHA:667
HP:0007807	Optic nerve compression	29887	SNX10	ORPHA:667
HP:0007807	Optic nerve compression	8600	TNFSF11	ORPHA:667
HP:0000480	Retinal coloboma	22827	PUF60	ORPHA:508498
HP:0000480	Retinal coloboma	22827	PUF60	ORPHA:508488
HP:0000480	Retinal coloboma	4123	MAN2C1	OMIM:619775
HP:0000480	Retinal coloboma	9158	FIBP	ORPHA:500095
HP:0000480	Retinal coloboma	9158	FIBP	OMIM:617107
HP:0000480	Retinal coloboma	145173	B3GLCT	OMIM:261540
HP:0000480	Retinal coloboma	26005	C2CD3	ORPHA:434179
HP:0000480	Retinal coloboma	26005	C2CD3	OMIM:615948
HP:0000480	Retinal coloboma	9786	KIAA0586	OMIM:616546
HP:0000480	Retinal coloboma	220	ALDH1A3	OMIM:615113
HP:0000480	Retinal coloboma	9487	PIGL	OMIM:280000
HP:0000480	Retinal coloboma	9487	PIGL	ORPHA:3474
HP:0000480	Retinal coloboma	8573	CASK	OMIM:300749
HP:0000480	Retinal coloboma	80184	CEP290	OMIM:610188
HP:0000480	Retinal coloboma	2248	FGF3	ORPHA:2791
HP:0000480	Retinal coloboma	3166	HMX1	OMIM:612109
HP:0000480	Retinal coloboma	57167	SALL4	OMIM:607323
HP:0000480	Retinal coloboma	22930	RAB3GAP1	ORPHA:2510
HP:0000480	Retinal coloboma	25782	RAB3GAP2	ORPHA:2510
HP:0000480	Retinal coloboma	22931	RAB18	ORPHA:2510
HP:0000480	Retinal coloboma	128637	TBC1D20	ORPHA:2510
HP:0000480	Retinal coloboma	5076	PAX2	OMIM:120330
HP:0000480	Retinal coloboma	5076	PAX2	ORPHA:1475
HP:0000480	Retinal coloboma	9839	ZEB2	ORPHA:261537
HP:0000480	Retinal coloboma	9839	ZEB2	ORPHA:261552
HP:0000480	Retinal coloboma	7020	TFAP2A	OMIM:113620
HP:0000480	Retinal coloboma	26173	INTS1	OMIM:618571
HP:0000480	Retinal coloboma	54806	AHI1	ORPHA:220493
HP:0000480	Retinal coloboma	56623	INPP5E	ORPHA:220493
HP:0000480	Retinal coloboma	153241	CEP120	ORPHA:220493
HP:0000480	Retinal coloboma	54903	MKS1	ORPHA:220493
HP:0000480	Retinal coloboma	95681	CEP41	ORPHA:220493
HP:0000480	Retinal coloboma	55636	CHD7	OMIM:214800
HP:0000480	Retinal coloboma	5908	RAP1B	OMIM:620654
HP:0000480	Retinal coloboma	7855	FZD5	OMIM:620731
HP:0000480	Retinal coloboma	6297	SALL2	OMIM:216820
HP:0000480	Retinal coloboma	8085	KMT2D	OMIM:147920
HP:0000480	Retinal coloboma	7403	KDM6A	OMIM:147920
HP:0000480	Retinal coloboma	64802	NMNAT1	OMIM:619260
HP:0000480	Retinal coloboma	64802	NMNAT1	OMIM:608553
HP:0000480	Retinal coloboma	5631	PRPS1	ORPHA:423479
HP:0000480	Retinal coloboma	9227	LRAT	ORPHA:364055
HP:0000480	Retinal coloboma	55812	SPATA7	ORPHA:364055
HP:0000480	Retinal coloboma	6121	RPE65	ORPHA:364055
HP:0000480	Retinal coloboma	167691	LCA5	ORPHA:364055
HP:0000480	Retinal coloboma	149461	CLDN19	ORPHA:2196
HP:0000480	Retinal coloboma	149461	CLDN19	OMIM:248190
HP:0000480	Retinal coloboma	55714	TENM3	OMIM:615145
HP:0000480	Retinal coloboma	9785	DHX38	OMIM:618220
HP:0000480	Retinal coloboma	25974	MMACHC	ORPHA:79282
HP:0000480	Retinal coloboma	23418	CRB1	OMIM:613835
HP:0007809	Punctate corneal dystrophy	7045	TGFBI	OMIM:121900
HP:0007800	Increased axial length of the globe	29894	CPSF1	OMIM:618827
HP:0007800	Increased axial length of the globe	80232	WDR26	ORPHA:513456
HP:0007800	Increased axial length of the globe	2200	FBN1	OMIM:154700
HP:0007800	Increased axial length of the globe	9997	SCO2	OMIM:608908
HP:0007800	Increased axial length of the globe	4043	LRPAP1	OMIM:615431
HP:0007813	Nongranulomatous uveitis	64127	NOD2	OMIM:186580
HP:0007813	Nongranulomatous uveitis	149233	IL23R	ORPHA:117
HP:0007813	Nongranulomatous uveitis	6775	STAT4	ORPHA:117
HP:0007813	Nongranulomatous uveitis	3586	IL10	ORPHA:117
HP:0007813	Nongranulomatous uveitis	4210	MEFV	ORPHA:117
HP:0007813	Nongranulomatous uveitis	1230	CCR1	ORPHA:117
HP:0007813	Nongranulomatous uveitis	355	FAS	ORPHA:117
HP:0007813	Nongranulomatous uveitis	3592	IL12A	ORPHA:117
HP:0007813	Nongranulomatous uveitis	101928376	IL12A-AS1	ORPHA:117
HP:0007813	Nongranulomatous uveitis	3106	HLA-B	ORPHA:117
HP:0007813	Nongranulomatous uveitis	7099	TLR4	ORPHA:117
HP:0007813	Nongranulomatous uveitis	3459	IFNGR1	ORPHA:117
HP:0007813	Nongranulomatous uveitis	720	C4A	ORPHA:117
HP:0007813	Nongranulomatous uveitis	337867	UBAC2	ORPHA:117
HP:0007813	Nongranulomatous uveitis	51752	ERAP1	ORPHA:117
HP:0007813	Nongranulomatous uveitis	8302	KLRC4	ORPHA:117
HP:0007817	Horizontal supranuclear gaze palsy	64221	ROBO3	ORPHA:2744
HP:0007817	Horizontal supranuclear gaze palsy	64221	ROBO3	OMIM:607313
HP:0007817	Horizontal supranuclear gaze palsy	1630	DCC	ORPHA:2744
HP:0007817	Horizontal supranuclear gaze palsy	1630	DCC	OMIM:617542
HP:0007817	Horizontal supranuclear gaze palsy	3198	HOXA1	OMIM:601536
HP:0007817	Horizontal supranuclear gaze palsy	2629	GBA1	OMIM:231000
HP:0007818	Central heterochromia	57167	SALL4	ORPHA:233
HP:0007818	Central heterochromia	9935	MAFB	ORPHA:233
HP:0007818	Central heterochromia	1123	CHN1	ORPHA:233
HP:0007818	Central heterochromia	10908	PNPLA6	OMIM:275400
HP:0007818	Central heterochromia	207	AKT1	ORPHA:744
HP:0007819	Presenile cataracts	5080	PAX6	OMIM:136520
HP:0007819	Presenile cataracts	4627	MYH9	ORPHA:182050
HP:0007819	Presenile cataracts	4507	MTAP	OMIM:112250
HP:0007811	Horizontal pendular nystagmus	54664	TMEM106B	OMIM:617964
HP:0007811	Horizontal pendular nystagmus	9181	ARHGEF2	OMIM:617523
HP:0007811	Horizontal pendular nystagmus	4041	LRP5	OMIM:601813
HP:0007811	Horizontal pendular nystagmus	54714	CNGB3	OMIM:262300
HP:0007811	Horizontal pendular nystagmus	4508	MT-ATP6	ORPHA:225154
HP:0007811	Horizontal pendular nystagmus	23636	NUP62	ORPHA:225154
HP:0007811	Horizontal pendular nystagmus	53371	NUP54	ORPHA:225154
HP:0007811	Horizontal pendular nystagmus	103	ADAR	ORPHA:225154
HP:0007812	Herpetiform corneal ulceration	6898	TAT	OMIM:276600
HP:0025401	Staring gaze	3064	HTT	ORPHA:399
HP:0025401	Staring gaze	6515	SLC2A3	ORPHA:399
HP:0025401	Staring gaze	60482	SLC5A7	ORPHA:98914
HP:0025401	Staring gaze	4649	MYO9A	ORPHA:98914
HP:0025401	Staring gaze	1305	COL13A1	ORPHA:98914
HP:0025401	Staring gaze	1103	CHAT	ORPHA:98914
HP:0025401	Staring gaze	6576	SLC25A1	ORPHA:98914
HP:0025401	Staring gaze	6843	VAMP1	ORPHA:98914
HP:0025401	Staring gaze	375790	AGRN	ORPHA:98914
HP:0025401	Staring gaze	127833	SYT2	ORPHA:98914
HP:0025401	Staring gaze	6572	SLC18A3	ORPHA:98914
HP:0025401	Staring gaze	6616	SNAP25	ORPHA:98914
HP:0025401	Staring gaze	6326	SCN2A	ORPHA:140927
HP:0025401	Staring gaze	3785	KCNQ2	ORPHA:140927
HP:0025401	Staring gaze	57505	AARS2	OMIM:614096
HP:0025401	Staring gaze	340533	NEXMIF	OMIM:300912
HP:0025401	Staring gaze	55768	NGLY1	ORPHA:404454
HP:0025401	Staring gaze	8867	SYNJ1	OMIM:615530
HP:0025401	Staring gaze	343450	KCNT2	OMIM:617771
HP:0025401	Staring gaze	6310	ATXN1	ORPHA:98755
HP:0025401	Staring gaze	112476	PRRT2	ORPHA:98810
HP:0025401	Staring gaze	25953	PNKD	ORPHA:98810
HP:0025402	Square-wave jerks	23230	VPS13A	ORPHA:2388
HP:0025402	Square-wave jerks	2395	FXN	ORPHA:95
HP:0025402	Square-wave jerks	23345	SYNE1	ORPHA:88644
HP:0025403	Stooped posture	54664	TMEM106B	OMIM:617964
HP:0025403	Stooped posture	10352	WARS2	OMIM:619738
HP:0025403	Stooped posture	4204	MECP2	ORPHA:3077
HP:0025403	Stooped posture	1303	COL12A1	OMIM:616471
HP:0025403	Stooped posture	7084	TK2	ORPHA:254886
HP:0025403	Stooped posture	5428	POLG	ORPHA:254886
HP:0025403	Stooped posture	84320	ACBD6	OMIM:620785
HP:0025403	Stooped posture	6571	SLC18A2	OMIM:618049
HP:0025403	Stooped posture	8867	SYNJ1	OMIM:615530
HP:0025403	Stooped posture	23400	ATP13A2	ORPHA:306674
HP:0025404	Abnormal visual fixation	9488	PIGB	OMIM:618580
HP:0025404	Abnormal visual fixation	5903	RANBP2	ORPHA:88619
HP:0025404	Abnormal visual fixation	2629	GBA1	ORPHA:2072
HP:0025404	Abnormal visual fixation	8813	DPM1	ORPHA:79322
HP:0025404	Abnormal visual fixation	25930	PTPN23	OMIM:618890
HP:0025404	Abnormal visual fixation	5277	PIGA	OMIM:300868
HP:0025404	Abnormal visual fixation	55187	VPS13D	ORPHA:95434
HP:0025404	Abnormal visual fixation	27072	VPS41	ORPHA:95434
HP:0025404	Abnormal visual fixation	427	ASAH1	ORPHA:333
HP:0025404	Abnormal visual fixation	27183	VPS4A	OMIM:619273
HP:0025404	Abnormal visual fixation	4081	MAB21L1	ORPHA:495875
HP:0025404	Abnormal visual fixation	10978	CLP1	ORPHA:411493
HP:0025404	Abnormal visual fixation	100131801	PET100	OMIM:619055
HP:0025404	Abnormal visual fixation	1182	CLCN3	OMIM:619517
HP:0025404	Abnormal visual fixation	56172	ANKH	OMIM:123000
HP:0025404	Abnormal visual fixation	55704	CCDC88A	OMIM:617507
HP:0025404	Abnormal visual fixation	11342	RNF13	ORPHA:544503
HP:0025404	Abnormal visual fixation	64116	SLC39A8	ORPHA:468699
HP:0025404	Abnormal visual fixation	443	ASPA	ORPHA:314911
HP:0025404	Abnormal visual fixation	271	AMPD2	OMIM:615809
HP:0025404	Abnormal visual fixation	3708	ITPR1	ORPHA:208513
HP:0025404	Abnormal visual fixation	79736	TEFM	OMIM:620451
HP:0025404	Abnormal visual fixation	22926	ATF6	ORPHA:49382
HP:0025404	Abnormal visual fixation	5146	PDE6C	ORPHA:49382
HP:0025404	Abnormal visual fixation	6103	RPGR	ORPHA:49382
HP:0025404	Abnormal visual fixation	5149	PDE6H	ORPHA:49382
HP:0025404	Abnormal visual fixation	2780	GNAT2	ORPHA:49382
HP:0025404	Abnormal visual fixation	1261	CNGA3	ORPHA:49382
HP:0025404	Abnormal visual fixation	54714	CNGB3	ORPHA:49382
HP:0025404	Abnormal visual fixation	8481	OFD1	OMIM:300424
HP:0025404	Abnormal visual fixation	2652	OPN1MW	ORPHA:16
HP:0025404	Abnormal visual fixation	5956	OPN1LW	ORPHA:16
HP:0025405	Visual fixation instability	427	ASAH1	ORPHA:333
HP:0025405	Visual fixation instability	27183	VPS4A	OMIM:619273
HP:0025405	Visual fixation instability	4081	MAB21L1	ORPHA:495875
HP:0025405	Visual fixation instability	10978	CLP1	ORPHA:411493
HP:0025405	Visual fixation instability	100131801	PET100	OMIM:619055
HP:0025405	Visual fixation instability	1182	CLCN3	OMIM:619517
HP:0025405	Visual fixation instability	56172	ANKH	OMIM:123000
HP:0025405	Visual fixation instability	55704	CCDC88A	OMIM:617507
HP:0025405	Visual fixation instability	11342	RNF13	ORPHA:544503
HP:0025405	Visual fixation instability	64116	SLC39A8	ORPHA:468699
HP:0025405	Visual fixation instability	443	ASPA	ORPHA:314911
HP:0025405	Visual fixation instability	271	AMPD2	OMIM:615809
HP:0025405	Visual fixation instability	3708	ITPR1	ORPHA:208513
HP:0025405	Visual fixation instability	79736	TEFM	OMIM:620451
HP:0025406	Asthenia	212	ALAS2	OMIM:300751
HP:0025406	Asthenia	3930	LBR	OMIM:613471
HP:0025406	Asthenia	6709	SPTAN1	OMIM:620528
HP:0025406	Asthenia	9692	PRORP	OMIM:619737
HP:0025406	Asthenia	1716	DGUOK	ORPHA:329314
HP:0025406	Asthenia	9842	PLEKHM1	OMIM:618107
HP:0025406	Asthenia	50814	NSDHL	ORPHA:251383
HP:0025406	Asthenia	83550	GPR101	ORPHA:963
HP:0025406	Asthenia	9049	AIP	ORPHA:963
HP:0025406	Asthenia	5277	PIGA	ORPHA:447
HP:0025406	Asthenia	3181	HNRNPA2B1	OMIM:620460
HP:0025406	Asthenia	4210	MEFV	ORPHA:342
HP:0025406	Asthenia	4125	MAN2B1	ORPHA:309282
HP:0025406	Asthenia	4125	MAN2B1	ORPHA:309288
HP:0025406	Asthenia	4522	MTHFD1	OMIM:617780
HP:0025406	Asthenia	866	SERPINA6	OMIM:611489
HP:0025406	Asthenia	78987	CRELD1	OMIM:620771
HP:0025407	Rectourethral fistula	267010	RNU12	OMIM:603116
HP:0025407	Rectourethral fistula	4281	MID1	OMIM:300000
HP:0025408	Abnormal spleen morphology	3071	NCKAP1L	OMIM:618982
HP:0025408	Abnormal spleen morphology	10466	COG5	ORPHA:263487
HP:0025408	Abnormal spleen morphology	2632	GBE1	OMIM:232500
HP:0025408	Abnormal spleen morphology	55823	VPS11	ORPHA:466934
HP:0025408	Abnormal spleen morphology	5880	RAC2	OMIM:618986
HP:0025408	Abnormal spleen morphology	79722	ANKRD55	ORPHA:85408
HP:0025408	Abnormal spleen morphology	26191	PTPN22	ORPHA:85408
HP:0025408	Abnormal spleen morphology	919	CD247	ORPHA:85408
HP:0025408	Abnormal spleen morphology	919	CD247	ORPHA:169160
HP:0025408	Abnormal spleen morphology	3559	IL2RA	ORPHA:85408
HP:0025408	Abnormal spleen morphology	3559	IL2RA	OMIM:606367
HP:0025408	Abnormal spleen morphology	5771	PTPN2	ORPHA:85408
HP:0025408	Abnormal spleen morphology	3074	HEXB	OMIM:268800
HP:0025408	Abnormal spleen morphology	3074	HEXB	ORPHA:309155
HP:0025408	Abnormal spleen morphology	3716	JAK1	OMIM:618999
HP:0025408	Abnormal spleen morphology	2122	MECOM	OMIM:616738
HP:0025408	Abnormal spleen morphology	5476	CTSA	OMIM:256540
HP:0025408	Abnormal spleen morphology	9382	COG1	ORPHA:263508
HP:0025408	Abnormal spleen morphology	5251	PHEX	OMIM:307800
HP:0025408	Abnormal spleen morphology	1080	CFTR	OMIM:219700
HP:0025408	Abnormal spleen morphology	2212	FCGR2A	OMIM:219700
HP:0025408	Abnormal spleen morphology	915	CD3D	ORPHA:169160
HP:0025408	Abnormal spleen morphology	916	CD3E	ORPHA:169160
HP:0025408	Abnormal spleen morphology	1777	DNASE2	OMIM:619858
HP:0025408	Abnormal spleen morphology	3376	IARS1	ORPHA:541423
HP:0025408	Abnormal spleen morphology	3431	SP110	ORPHA:79124
HP:0025408	Abnormal spleen morphology	26154	ABCA12	OMIM:601277
HP:0025408	Abnormal spleen morphology	7289	TULP3	OMIM:619902
HP:0025408	Abnormal spleen morphology	672	BRCA1	ORPHA:1333
HP:0025408	Abnormal spleen morphology	285282	RABL3	ORPHA:1333
HP:0025408	Abnormal spleen morphology	675	BRCA2	ORPHA:1333
HP:0025408	Abnormal spleen morphology	1029	CDKN2A	ORPHA:1333
HP:0025408	Abnormal spleen morphology	79728	PALB2	ORPHA:1333
HP:0025408	Abnormal spleen morphology	4089	SMAD4	ORPHA:1333
HP:0025408	Abnormal spleen morphology	23022	PALLD	ORPHA:1333
HP:0025408	Abnormal spleen morphology	2783	GNB2	OMIM:619503
HP:0025408	Abnormal spleen morphology	2584	GALK1	ORPHA:79237
HP:0025408	Abnormal spleen morphology	9051	PSTPIP1	OMIM:604416
HP:0025408	Abnormal spleen morphology	970	CD70	OMIM:618261
HP:0025408	Abnormal spleen morphology	3572	IL6ST	OMIM:619750
HP:0025408	Abnormal spleen morphology	6774	STAT3	OMIM:615952
HP:0025408	Abnormal spleen morphology	8517	IKBKG	OMIM:301081
HP:0025408	Abnormal spleen morphology	100147744	RNU7-1	OMIM:619487
HP:0025408	Abnormal spleen morphology	100147744	RNU7-1	ORPHA:51
HP:0025408	Abnormal spleen morphology	374354	NHLRC2	OMIM:618278
HP:0025408	Abnormal spleen morphology	57169	ZNFX1	OMIM:619644
HP:0025408	Abnormal spleen morphology	2263	FGFR2	OMIM:614592
HP:0025408	Abnormal spleen morphology	2263	FGFR2	ORPHA:313855
HP:0025408	Abnormal spleen morphology	5788	PTPRC	OMIM:619924
HP:0025408	Abnormal spleen morphology	10165	SLC25A13	ORPHA:247598
HP:0025408	Abnormal spleen morphology	9371	KIF3B	OMIM:618955
HP:0025408	Abnormal spleen morphology	2729	GCLC	ORPHA:33574
HP:0025408	Abnormal spleen morphology	7841	MOGS	ORPHA:79330
HP:0025408	Abnormal spleen morphology	388015	RTL1	ORPHA:96334
HP:0025408	Abnormal spleen morphology	8788	DLK1	ORPHA:96334
HP:0025408	Abnormal spleen morphology	55384	MEG3	ORPHA:96334
HP:0025408	Abnormal spleen morphology	3718	JAK3	ORPHA:35078
HP:0025408	Abnormal spleen morphology	760	CA2	OMIM:259730
HP:0025408	Abnormal spleen morphology	7030	TFE3	OMIM:301066
HP:0025408	Abnormal spleen morphology	2193	FARSA	OMIM:619013
HP:0025408	Abnormal spleen morphology	5194	PEX13	OMIM:614885
HP:0025408	Abnormal spleen morphology	9939	RBM8A	OMIM:274000
HP:0025408	Abnormal spleen morphology	84153	RNASEH2C	OMIM:610329
HP:0025408	Abnormal spleen morphology	84153	RNASEH2C	ORPHA:51
HP:0025408	Abnormal spleen morphology	1513	CTSK	ORPHA:763
HP:0025408	Abnormal spleen morphology	9742	IFT140	OMIM:266920
HP:0025408	Abnormal spleen morphology	25939	SAMHD1	ORPHA:51
HP:0025408	Abnormal spleen morphology	79621	RNASEH2B	ORPHA:51
HP:0025408	Abnormal spleen morphology	134353	LSM11	ORPHA:51
HP:0025408	Abnormal spleen morphology	6006	RHCE	ORPHA:71275
HP:0025408	Abnormal spleen morphology	1497	CTNS	OMIM:219800
HP:0025408	Abnormal spleen morphology	5728	PTEN	OMIM:605309
HP:0025408	Abnormal spleen morphology	5728	PTEN	ORPHA:2969
HP:0025408	Abnormal spleen morphology	5728	PTEN	ORPHA:397596
HP:0025408	Abnormal spleen morphology	7293	TNFRSF4	OMIM:615593
HP:0025408	Abnormal spleen morphology	1493	CTLA4	ORPHA:436159
HP:0025408	Abnormal spleen morphology	1493	CTLA4	OMIM:616100
HP:0025408	Abnormal spleen morphology	1493	CTLA4	ORPHA:3162
HP:0025408	Abnormal spleen morphology	1493	CTLA4	ORPHA:2584
HP:0025408	Abnormal spleen morphology	5993	RFX5	OMIM:620816
HP:0025408	Abnormal spleen morphology	5994	RFXAP	OMIM:620817
HP:0025408	Abnormal spleen morphology	3783	KCNN4	OMIM:616689
HP:0025408	Abnormal spleen morphology	3783	KCNN4	ORPHA:3202
HP:0025408	Abnormal spleen morphology	3145	HMBS	OMIM:620704
HP:0025408	Abnormal spleen morphology	1161	ERCC8	ORPHA:90324
HP:0025408	Abnormal spleen morphology	1161	ERCC8	OMIM:216400
HP:0025408	Abnormal spleen morphology	2074	ERCC6	ORPHA:90324
HP:0025408	Abnormal spleen morphology	2074	ERCC6	OMIM:133540
HP:0025408	Abnormal spleen morphology	8573	CASK	OMIM:300908
HP:0025408	Abnormal spleen morphology	2539	G6PD	OMIM:300908
HP:0025408	Abnormal spleen morphology	55240	STEAP3	OMIM:615234
HP:0025408	Abnormal spleen morphology	4860	PNP	OMIM:613179
HP:0025408	Abnormal spleen morphology	19	ABCA1	OMIM:205400
HP:0025408	Abnormal spleen morphology	2720	GLB1	OMIM:230600
HP:0025408	Abnormal spleen morphology	2720	GLB1	OMIM:230650
HP:0025408	Abnormal spleen morphology	2720	GLB1	OMIM:230500
HP:0025408	Abnormal spleen morphology	755	CFAP410	OMIM:602271
HP:0025408	Abnormal spleen morphology	148738	HJV	OMIM:602390
HP:0025408	Abnormal spleen morphology	80270	HSD3B7	ORPHA:79301
HP:0025408	Abnormal spleen morphology	80270	HSD3B7	OMIM:607765
HP:0025408	Abnormal spleen morphology	5314	PKHD1	ORPHA:53035
HP:0025408	Abnormal spleen morphology	5314	PKHD1	OMIM:263200
HP:0025408	Abnormal spleen morphology	5314	PKHD1	ORPHA:731
HP:0025408	Abnormal spleen morphology	5604	MAP2K1	ORPHA:389
HP:0025408	Abnormal spleen morphology	4893	NRAS	ORPHA:389
HP:0025408	Abnormal spleen morphology	4893	NRAS	OMIM:614470
HP:0025408	Abnormal spleen morphology	673	BRAF	ORPHA:389
HP:0025408	Abnormal spleen morphology	673	BRAF	OMIM:115150
HP:0025408	Abnormal spleen morphology	197131	UBR1	OMIM:243800
HP:0025408	Abnormal spleen morphology	4210	MEFV	OMIM:249100
HP:0025408	Abnormal spleen morphology	4210	MEFV	ORPHA:342
HP:0025408	Abnormal spleen morphology	4210	MEFV	ORPHA:117
HP:0025408	Abnormal spleen morphology	939	CD27	OMIM:615122
HP:0025408	Abnormal spleen morphology	84433	CARD11	OMIM:616452
HP:0025408	Abnormal spleen morphology	5184	PEPD	OMIM:170100
HP:0025408	Abnormal spleen morphology	5184	PEPD	ORPHA:742
HP:0025408	Abnormal spleen morphology	65082	VPS33A	OMIM:617303
HP:0025408	Abnormal spleen morphology	84936	ZFYVE19	OMIM:619849
HP:0025408	Abnormal spleen morphology	10730	YME1L1	OMIM:617302
HP:0025408	Abnormal spleen morphology	51473	DCDC2	OMIM:616217
HP:0025408	Abnormal spleen morphology	51473	DCDC2	OMIM:617394
HP:0025408	Abnormal spleen morphology	55768	NGLY1	ORPHA:404454
HP:0025408	Abnormal spleen morphology	79158	GNPTAB	OMIM:252500
HP:0025408	Abnormal spleen morphology	79158	GNPTAB	OMIM:252600
HP:0025408	Abnormal spleen morphology	79158	GNPTAB	ORPHA:576
HP:0025408	Abnormal spleen morphology	1536	CYBB	ORPHA:379
HP:0025408	Abnormal spleen morphology	1536	CYBB	OMIM:306400
HP:0025408	Abnormal spleen morphology	4688	NCF2	ORPHA:379
HP:0025408	Abnormal spleen morphology	4688	NCF2	OMIM:233710
HP:0025408	Abnormal spleen morphology	1535	CYBA	ORPHA:379
HP:0025408	Abnormal spleen morphology	1535	CYBA	OMIM:233690
HP:0025408	Abnormal spleen morphology	4689	NCF4	ORPHA:379
HP:0025408	Abnormal spleen morphology	653361	NCF1	ORPHA:379
HP:0025408	Abnormal spleen morphology	653361	NCF1	OMIM:233700
HP:0025408	Abnormal spleen morphology	79415	CYBC1	ORPHA:379
HP:0025408	Abnormal spleen morphology	79415	CYBC1	OMIM:618935
HP:0025408	Abnormal spleen morphology	6772	STAT1	OMIM:614162
HP:0025408	Abnormal spleen morphology	115650	TNFRSF13C	OMIM:240500
HP:0025408	Abnormal spleen morphology	115650	TNFRSF13C	ORPHA:1572
HP:0025408	Abnormal spleen morphology	29851	ICOS	OMIM:240500
HP:0025408	Abnormal spleen morphology	29851	ICOS	OMIM:607594
HP:0025408	Abnormal spleen morphology	29851	ICOS	ORPHA:1572
HP:0025408	Abnormal spleen morphology	930	CD19	OMIM:240500
HP:0025408	Abnormal spleen morphology	930	CD19	ORPHA:1572
HP:0025408	Abnormal spleen morphology	23495	TNFRSF13B	OMIM:240500
HP:0025408	Abnormal spleen morphology	23495	TNFRSF13B	ORPHA:1572
HP:0025408	Abnormal spleen morphology	1380	CR2	OMIM:240500
HP:0025408	Abnormal spleen morphology	1380	CR2	ORPHA:1572
HP:0025408	Abnormal spleen morphology	1380	CR2	OMIM:614699
HP:0025408	Abnormal spleen morphology	60561	RINT1	OMIM:618641
HP:0025408	Abnormal spleen morphology	2859	GPR35	ORPHA:171
HP:0025408	Abnormal spleen morphology	10507	SEMA4D	ORPHA:171
HP:0025408	Abnormal spleen morphology	4485	MST1	ORPHA:171
HP:0025408	Abnormal spleen morphology	6925	TCF4	ORPHA:171
HP:0025408	Abnormal spleen morphology	103	ADAR	OMIM:615010
HP:0025408	Abnormal spleen morphology	54567	DLL4	OMIM:616589
HP:0025408	Abnormal spleen morphology	6573	SLC19A1	OMIM:620603
HP:0025408	Abnormal spleen morphology	3423	IDS	ORPHA:217085
HP:0025408	Abnormal spleen morphology	3423	IDS	OMIM:309900
HP:0025408	Abnormal spleen morphology	3423	IDS	ORPHA:217093
HP:0025408	Abnormal spleen morphology	1716	DGUOK	OMIM:251880
HP:0025408	Abnormal spleen morphology	1716	DGUOK	OMIM:617068
HP:0025408	Abnormal spleen morphology	1441	CSF3R	OMIM:162830
HP:0025408	Abnormal spleen morphology	2035	EPB41	ORPHA:288
HP:0025408	Abnormal spleen morphology	2035	EPB41	OMIM:611804
HP:0025408	Abnormal spleen morphology	2995	GYPC	ORPHA:288
HP:0025408	Abnormal spleen morphology	6710	SPTB	ORPHA:288
HP:0025408	Abnormal spleen morphology	6710	SPTB	ORPHA:822
HP:0025408	Abnormal spleen morphology	6710	SPTB	OMIM:616649
HP:0025408	Abnormal spleen morphology	6708	SPTA1	ORPHA:288
HP:0025408	Abnormal spleen morphology	6708	SPTA1	ORPHA:822
HP:0025408	Abnormal spleen morphology	1130	LYST	ORPHA:167
HP:0025408	Abnormal spleen morphology	1130	LYST	OMIM:214500
HP:0025408	Abnormal spleen morphology	3043	HBB	ORPHA:231242
HP:0025408	Abnormal spleen morphology	3043	HBB	ORPHA:46532
HP:0025408	Abnormal spleen morphology	3043	HBB	ORPHA:231214
HP:0025408	Abnormal spleen morphology	3043	HBB	ORPHA:231222
HP:0025408	Abnormal spleen morphology	3043	HBB	ORPHA:231226
HP:0025408	Abnormal spleen morphology	3043	HBB	ORPHA:251380
HP:0025408	Abnormal spleen morphology	3043	HBB	OMIM:603903
HP:0025408	Abnormal spleen morphology	3043	HBB	OMIM:603902
HP:0025408	Abnormal spleen morphology	3043	HBB	ORPHA:2133
HP:0025408	Abnormal spleen morphology	3043	HBB	ORPHA:90039
HP:0025408	Abnormal spleen morphology	57231	SNX14	OMIM:616354
HP:0025408	Abnormal spleen morphology	28755	TRAC	OMIM:615387
HP:0025408	Abnormal spleen morphology	2623	GATA1	OMIM:314050
HP:0025408	Abnormal spleen morphology	2623	GATA1	ORPHA:231393
HP:0025408	Abnormal spleen morphology	2623	GATA1	ORPHA:79277
HP:0025408	Abnormal spleen morphology	1371	CPOX	OMIM:618892
HP:0025408	Abnormal spleen morphology	1371	CPOX	OMIM:121300
HP:0025408	Abnormal spleen morphology	80739	MPIG6B	OMIM:617441
HP:0025408	Abnormal spleen morphology	10125	RASGRP1	OMIM:618534
HP:0025408	Abnormal spleen morphology	4645	MYO5B	OMIM:619868
HP:0025408	Abnormal spleen morphology	3039	HBA1	ORPHA:163596
HP:0025408	Abnormal spleen morphology	3039	HBA1	OMIM:613978
HP:0025408	Abnormal spleen morphology	3040	HBA2	ORPHA:163596
HP:0025408	Abnormal spleen morphology	3040	HBA2	OMIM:613978
HP:0025408	Abnormal spleen morphology	10019	SH2B3	OMIM:133100
HP:0025408	Abnormal spleen morphology	10019	SH2B3	ORPHA:3318
HP:0025408	Abnormal spleen morphology	10019	SH2B3	OMIM:187950
HP:0025408	Abnormal spleen morphology	10019	SH2B3	OMIM:254450
HP:0025408	Abnormal spleen morphology	3717	JAK2	OMIM:133100
HP:0025408	Abnormal spleen morphology	3717	JAK2	ORPHA:131
HP:0025408	Abnormal spleen morphology	3717	JAK2	OMIM:263300
HP:0025408	Abnormal spleen morphology	3717	JAK2	ORPHA:71493
HP:0025408	Abnormal spleen morphology	3717	JAK2	ORPHA:824
HP:0025408	Abnormal spleen morphology	3717	JAK2	ORPHA:729
HP:0025408	Abnormal spleen morphology	3717	JAK2	ORPHA:3318
HP:0025408	Abnormal spleen morphology	3717	JAK2	OMIM:254450
HP:0025408	Abnormal spleen morphology	2057	EPOR	OMIM:133100
HP:0025408	Abnormal spleen morphology	1186	CLCN7	OMIM:618541
HP:0025408	Abnormal spleen morphology	1186	CLCN7	ORPHA:667
HP:0025408	Abnormal spleen morphology	1186	CLCN7	OMIM:611490
HP:0025408	Abnormal spleen morphology	10661	KLF1	ORPHA:46532
HP:0025408	Abnormal spleen morphology	10661	KLF1	ORPHA:251380
HP:0025408	Abnormal spleen morphology	10661	KLF1	OMIM:613673
HP:0025408	Abnormal spleen morphology	3047	HBG1	ORPHA:46532
HP:0025408	Abnormal spleen morphology	3047	HBG1	ORPHA:251380
HP:0025408	Abnormal spleen morphology	3048	HBG2	ORPHA:46532
HP:0025408	Abnormal spleen morphology	3048	HBG2	ORPHA:251380
HP:0025408	Abnormal spleen morphology	595	CCND1	ORPHA:29073
HP:0025408	Abnormal spleen morphology	595	CCND1	ORPHA:52416
HP:0025408	Abnormal spleen morphology	1594	CYP27B1	ORPHA:289157
HP:0025408	Abnormal spleen morphology	120227	CYP2R1	ORPHA:289157
HP:0025408	Abnormal spleen morphology	54914	FOCAD	OMIM:619991
HP:0025408	Abnormal spleen morphology	27125	AFF4	OMIM:616368
HP:0025408	Abnormal spleen morphology	5295	PIK3R1	OMIM:616005
HP:0025408	Abnormal spleen morphology	5295	PIK3R1	ORPHA:397596
HP:0025408	Abnormal spleen morphology	286	ANK1	ORPHA:251066
HP:0025408	Abnormal spleen morphology	286	ANK1	OMIM:182900
HP:0025408	Abnormal spleen morphology	286	ANK1	ORPHA:822
HP:0025408	Abnormal spleen morphology	285362	SUMF1	OMIM:272200
HP:0025408	Abnormal spleen morphology	285362	SUMF1	ORPHA:585
HP:0025408	Abnormal spleen morphology	5896	RAG1	OMIM:603554
HP:0025408	Abnormal spleen morphology	5896	RAG1	ORPHA:39041
HP:0025408	Abnormal spleen morphology	5896	RAG1	ORPHA:231154
HP:0025408	Abnormal spleen morphology	5897	RAG2	OMIM:603554
HP:0025408	Abnormal spleen morphology	5897	RAG2	ORPHA:39041
HP:0025408	Abnormal spleen morphology	64421	DCLRE1C	OMIM:603554
HP:0025408	Abnormal spleen morphology	64421	DCLRE1C	OMIM:602450
HP:0025408	Abnormal spleen morphology	64421	DCLRE1C	ORPHA:39041
HP:0025408	Abnormal spleen morphology	2990	GUSB	ORPHA:584
HP:0025408	Abnormal spleen morphology	2990	GUSB	OMIM:253220
HP:0025408	Abnormal spleen morphology	5551	PRF1	OMIM:603553
HP:0025408	Abnormal spleen morphology	5551	PRF1	ORPHA:540
HP:0025408	Abnormal spleen morphology	8676	STX11	OMIM:603552
HP:0025408	Abnormal spleen morphology	8676	STX11	ORPHA:540
HP:0025408	Abnormal spleen morphology	5244	ABCB4	OMIM:602347
HP:0025408	Abnormal spleen morphology	11311	VPS45	OMIM:615285
HP:0025408	Abnormal spleen morphology	2542	SLC37A4	OMIM:619525
HP:0025408	Abnormal spleen morphology	2542	SLC37A4	OMIM:232220
HP:0025408	Abnormal spleen morphology	55072	RNF31	OMIM:620632
HP:0025408	Abnormal spleen morphology	540	ATP7B	OMIM:277900
HP:0025408	Abnormal spleen morphology	540	ATP7B	ORPHA:905
HP:0025408	Abnormal spleen morphology	2683	B4GALT1	ORPHA:79332
HP:0025408	Abnormal spleen morphology	57104	PNPLA2	OMIM:610717
HP:0025408	Abnormal spleen morphology	57104	PNPLA2	ORPHA:565612
HP:0025408	Abnormal spleen morphology	9968	MED12	OMIM:301068
HP:0025408	Abnormal spleen morphology	4000	LMNA	ORPHA:280365
HP:0025408	Abnormal spleen morphology	4000	LMNA	ORPHA:2348
HP:0025408	Abnormal spleen morphology	4000	LMNA	OMIM:151660
HP:0025408	Abnormal spleen morphology	2239	GPC4	ORPHA:373
HP:0025408	Abnormal spleen morphology	2239	GPC4	OMIM:312870
HP:0025408	Abnormal spleen morphology	2719	GPC3	ORPHA:373
HP:0025408	Abnormal spleen morphology	2719	GPC3	OMIM:312870
HP:0025408	Abnormal spleen morphology	811	CALR	ORPHA:131
HP:0025408	Abnormal spleen morphology	811	CALR	ORPHA:824
HP:0025408	Abnormal spleen morphology	811	CALR	ORPHA:3318
HP:0025408	Abnormal spleen morphology	811	CALR	OMIM:187950
HP:0025408	Abnormal spleen morphology	811	CALR	OMIM:254450
HP:0025408	Abnormal spleen morphology	2153	F5	ORPHA:131
HP:0025408	Abnormal spleen morphology	5692	PSMB4	OMIM:617591
HP:0025408	Abnormal spleen morphology	79989	IFT56	OMIM:619534
HP:0025408	Abnormal spleen morphology	5286	PIK3C2A	OMIM:618440
HP:0025408	Abnormal spleen morphology	8565	YARS1	OMIM:619418
HP:0025408	Abnormal spleen morphology	4851	NOTCH1	OMIM:616028
HP:0025408	Abnormal spleen morphology	654	BMP6	ORPHA:465508
HP:0025408	Abnormal spleen morphology	3077	HFE	ORPHA:465508
HP:0025408	Abnormal spleen morphology	3077	HFE	OMIM:235200
HP:0025408	Abnormal spleen morphology	54532	USP53	OMIM:619658
HP:0025408	Abnormal spleen morphology	2184	FAH	OMIM:276700
HP:0025408	Abnormal spleen morphology	2184	FAH	ORPHA:882
HP:0025408	Abnormal spleen morphology	64127	NOD2	ORPHA:90340
HP:0025408	Abnormal spleen morphology	51311	TLR8	OMIM:301078
HP:0025408	Abnormal spleen morphology	4615	MYD88	ORPHA:33226
HP:0025408	Abnormal spleen morphology	2629	GBA1	ORPHA:77261
HP:0025408	Abnormal spleen morphology	2629	GBA1	ORPHA:77260
HP:0025408	Abnormal spleen morphology	2629	GBA1	ORPHA:77259
HP:0025408	Abnormal spleen morphology	2629	GBA1	OMIM:230800
HP:0025408	Abnormal spleen morphology	2629	GBA1	ORPHA:2072
HP:0025408	Abnormal spleen morphology	2629	GBA1	OMIM:230900
HP:0025408	Abnormal spleen morphology	2629	GBA1	OMIM:608013
HP:0025408	Abnormal spleen morphology	2629	GBA1	OMIM:231005
HP:0025408	Abnormal spleen morphology	2629	GBA1	OMIM:231000
HP:0025408	Abnormal spleen morphology	54903	MKS1	OMIM:249000
HP:0025408	Abnormal spleen morphology	5825	ABCD3	OMIM:616278
HP:0025408	Abnormal spleen morphology	5256	PHKA2	ORPHA:264580
HP:0025408	Abnormal spleen morphology	5256	PHKA2	OMIM:306000
HP:0025408	Abnormal spleen morphology	5261	PHKG2	ORPHA:264580
HP:0025408	Abnormal spleen morphology	5261	PHKG2	OMIM:613027
HP:0025408	Abnormal spleen morphology	344	APOC2	OMIM:207750
HP:0025408	Abnormal spleen morphology	5277	PIGA	OMIM:301072
HP:0025408	Abnormal spleen morphology	5277	PIGA	OMIM:300868
HP:0025408	Abnormal spleen morphology	846	CASR	OMIM:239200
HP:0025408	Abnormal spleen morphology	846	CASR	ORPHA:417
HP:0025408	Abnormal spleen morphology	4594	MMUT	ORPHA:79312
HP:0025408	Abnormal spleen morphology	950	SCARB2	ORPHA:77259
HP:0025408	Abnormal spleen morphology	149233	IL23R	ORPHA:117
HP:0025408	Abnormal spleen morphology	6775	STAT4	ORPHA:117
HP:0025408	Abnormal spleen morphology	3586	IL10	ORPHA:117
HP:0025408	Abnormal spleen morphology	1230	CCR1	ORPHA:117
HP:0025408	Abnormal spleen morphology	355	FAS	ORPHA:117
HP:0025408	Abnormal spleen morphology	355	FAS	ORPHA:3261
HP:0025408	Abnormal spleen morphology	355	FAS	OMIM:601859
HP:0025408	Abnormal spleen morphology	3592	IL12A	ORPHA:117
HP:0025408	Abnormal spleen morphology	3592	IL12A	ORPHA:186
HP:0025408	Abnormal spleen morphology	101928376	IL12A-AS1	ORPHA:117
HP:0025408	Abnormal spleen morphology	3106	HLA-B	ORPHA:117
HP:0025408	Abnormal spleen morphology	7099	TLR4	ORPHA:117
HP:0025408	Abnormal spleen morphology	3459	IFNGR1	ORPHA:117
HP:0025408	Abnormal spleen morphology	3459	IFNGR1	OMIM:209950
HP:0025408	Abnormal spleen morphology	720	C4A	ORPHA:117
HP:0025408	Abnormal spleen morphology	337867	UBAC2	ORPHA:117
HP:0025408	Abnormal spleen morphology	51752	ERAP1	ORPHA:117
HP:0025408	Abnormal spleen morphology	8302	KLRC4	ORPHA:117
HP:0025408	Abnormal spleen morphology	5290	PIK3CA	OMIM:612918
HP:0025408	Abnormal spleen morphology	65992	DDRGK1	OMIM:602557
HP:0025408	Abnormal spleen morphology	6448	SGSH	OMIM:252900
HP:0025408	Abnormal spleen morphology	4598	MVK	ORPHA:29
HP:0025408	Abnormal spleen morphology	4598	MVK	OMIM:260920
HP:0025408	Abnormal spleen morphology	331	XIAP	OMIM:300635
HP:0025408	Abnormal spleen morphology	331	XIAP	OMIM:308240
HP:0025408	Abnormal spleen morphology	331	XIAP	ORPHA:538934
HP:0025408	Abnormal spleen morphology	3659	IRF1	OMIM:620668
HP:0025408	Abnormal spleen morphology	22806	IKZF3	OMIM:619437
HP:0025408	Abnormal spleen morphology	9842	PLEKHM1	OMIM:618107
HP:0025408	Abnormal spleen morphology	6916	TBXAS1	ORPHA:1802
HP:0025408	Abnormal spleen morphology	4023	LPL	OMIM:238600
HP:0025408	Abnormal spleen morphology	596	BCL2	ORPHA:545
HP:0025408	Abnormal spleen morphology	3492	IGH	ORPHA:545
HP:0025408	Abnormal spleen morphology	3492	IGH	ORPHA:52416
HP:0025408	Abnormal spleen morphology	3123	HLA-DRB1	ORPHA:545
HP:0025408	Abnormal spleen morphology	3123	HLA-DRB1	ORPHA:85414
HP:0025408	Abnormal spleen morphology	3123	HLA-DRB1	OMIM:181000
HP:0025408	Abnormal spleen morphology	604	BCL6	ORPHA:545
HP:0025408	Abnormal spleen morphology	959	CD40LG	OMIM:308230
HP:0025408	Abnormal spleen morphology	54790	TET2	ORPHA:75564
HP:0025408	Abnormal spleen morphology	54790	TET2	ORPHA:98849
HP:0025408	Abnormal spleen morphology	54790	TET2	ORPHA:824
HP:0025408	Abnormal spleen morphology	54790	TET2	ORPHA:3318
HP:0025408	Abnormal spleen morphology	23451	SF3B1	ORPHA:75564
HP:0025408	Abnormal spleen morphology	53335	BCL11A	ORPHA:251380
HP:0025408	Abnormal spleen morphology	10312	TCIRG1	ORPHA:667
HP:0025408	Abnormal spleen morphology	10312	TCIRG1	OMIM:259700
HP:0025408	Abnormal spleen morphology	29887	SNX10	ORPHA:667
HP:0025408	Abnormal spleen morphology	29887	SNX10	OMIM:615085
HP:0025408	Abnormal spleen morphology	8600	TNFSF11	ORPHA:667
HP:0025408	Abnormal spleen morphology	201294	UNC13D	ORPHA:540
HP:0025408	Abnormal spleen morphology	6813	STXBP2	ORPHA:540
HP:0025408	Abnormal spleen morphology	6813	STXBP2	OMIM:613101
HP:0025408	Abnormal spleen morphology	5009	OTC	ORPHA:664
HP:0025408	Abnormal spleen morphology	55315	SLC29A3	OMIM:602782
HP:0025408	Abnormal spleen morphology	7372	UMPS	ORPHA:30
HP:0025408	Abnormal spleen morphology	58484	NLRC4	OMIM:616050
HP:0025408	Abnormal spleen morphology	11277	TREX1	OMIM:225750
HP:0025408	Abnormal spleen morphology	22861	NLRP1	OMIM:617388
HP:0025408	Abnormal spleen morphology	5660	PSAP	OMIM:611721
HP:0025408	Abnormal spleen morphology	5660	PSAP	OMIM:610539
HP:0025408	Abnormal spleen morphology	5660	PSAP	ORPHA:139406
HP:0025408	Abnormal spleen morphology	55503	TRPV6	ORPHA:417
HP:0025408	Abnormal spleen morphology	81858	SHARPIN	OMIM:620795
HP:0025408	Abnormal spleen morphology	5698	PSMB9	OMIM:620796
HP:0025408	Abnormal spleen morphology	7132	TNFRSF1A	ORPHA:32960
HP:0025408	Abnormal spleen morphology	4068	SH2D1A	OMIM:308240
HP:0025408	Abnormal spleen morphology	23218	NBEAL2	OMIM:139090
HP:0025408	Abnormal spleen morphology	23218	NBEAL2	ORPHA:721
HP:0025408	Abnormal spleen morphology	114548	NLRP3	ORPHA:575
HP:0025408	Abnormal spleen morphology	114548	NLRP3	ORPHA:1451
HP:0025408	Abnormal spleen morphology	84061	MAGT1	OMIM:300853
HP:0025408	Abnormal spleen morphology	537	ATP6AP1	OMIM:300972
HP:0025408	Abnormal spleen morphology	4125	MAN2B1	OMIM:248500
HP:0025408	Abnormal spleen morphology	3756	KCNH1	OMIM:135500
HP:0025408	Abnormal spleen morphology	3756	KCNH1	ORPHA:3473
HP:0025408	Abnormal spleen morphology	3394	IRF8	OMIM:226990
HP:0025408	Abnormal spleen morphology	3643	INSR	OMIM:246200
HP:0025408	Abnormal spleen morphology	6718	AKR1D1	OMIM:235555
HP:0025408	Abnormal spleen morphology	10092	ARPC5	OMIM:620565
HP:0025408	Abnormal spleen morphology	4864	NPC1	OMIM:257220
HP:0025408	Abnormal spleen morphology	1312	COMT	ORPHA:567
HP:0025408	Abnormal spleen morphology	221037	JMJD1C	ORPHA:567
HP:0025408	Abnormal spleen morphology	2812	GP1BB	ORPHA:567
HP:0025408	Abnormal spleen morphology	6239	RREB1	ORPHA:567
HP:0025408	Abnormal spleen morphology	6899	TBX1	ORPHA:567
HP:0025408	Abnormal spleen morphology	6899	TBX1	OMIM:188400
HP:0025408	Abnormal spleen morphology	7290	HIRA	ORPHA:567
HP:0025408	Abnormal spleen morphology	9632	SEC24C	ORPHA:567
HP:0025408	Abnormal spleen morphology	7353	UFD1	ORPHA:567
HP:0025408	Abnormal spleen morphology	421	ARVCF	ORPHA:567
HP:0025408	Abnormal spleen morphology	7389	UROD	ORPHA:95159
HP:0025408	Abnormal spleen morphology	212	ALAS2	ORPHA:75563
HP:0025408	Abnormal spleen morphology	55630	SLC39A4	OMIM:201100
HP:0025408	Abnormal spleen morphology	546	ATRX	ORPHA:231401
HP:0025408	Abnormal spleen morphology	6007	RHD	OMIM:619462
HP:0025408	Abnormal spleen morphology	55340	GIMAP5	OMIM:619463
HP:0025408	Abnormal spleen morphology	3560	IL2RB	OMIM:618495
HP:0025408	Abnormal spleen morphology	8883	NAE1	OMIM:620210
HP:0025408	Abnormal spleen morphology	84701	COX4I2	OMIM:612714
HP:0025408	Abnormal spleen morphology	650	BMP2	OMIM:235200
HP:0025408	Abnormal spleen morphology	8943	AP3D1	OMIM:617050
HP:0025408	Abnormal spleen morphology	57003	CCDC47	OMIM:618268
HP:0025408	Abnormal spleen morphology	51095	TRNT1	OMIM:616084
HP:0025408	Abnormal spleen morphology	83706	FERMT3	OMIM:612840
HP:0025408	Abnormal spleen morphology	9420	CYP7B1	OMIM:613812
HP:0025408	Abnormal spleen morphology	6023	RMRP	ORPHA:39041
HP:0025408	Abnormal spleen morphology	55636	CHD7	ORPHA:39041
HP:0025408	Abnormal spleen morphology	3981	LIG4	ORPHA:39041
HP:0025408	Abnormal spleen morphology	100	ADA	ORPHA:39041
HP:0025408	Abnormal spleen morphology	100	ADA	OMIM:102700
HP:0025408	Abnormal spleen morphology	3575	IL7R	ORPHA:39041
HP:0025408	Abnormal spleen morphology	3575	IL7R	OMIM:608971
HP:0025408	Abnormal spleen morphology	3561	IL2RG	ORPHA:39041
HP:0025408	Abnormal spleen morphology	207	AKT1	ORPHA:744
HP:0025408	Abnormal spleen morphology	207	AKT1	OMIM:176920
HP:0025408	Abnormal spleen morphology	84868	HAVCR2	OMIM:618398
HP:0025408	Abnormal spleen morphology	7504	XK	OMIM:300842
HP:0025408	Abnormal spleen morphology	10483	SEC23B	OMIM:224100
HP:0025408	Abnormal spleen morphology	60468	BACH2	OMIM:618394
HP:0025408	Abnormal spleen morphology	226	ALDOA	OMIM:611881
HP:0025408	Abnormal spleen morphology	3557	IL1RN	OMIM:612852
HP:0025408	Abnormal spleen morphology	91662	NLRP12	OMIM:611762
HP:0025408	Abnormal spleen morphology	2799	GNS	OMIM:252940
HP:0025408	Abnormal spleen morphology	199221	DZIP1L	ORPHA:731
HP:0025408	Abnormal spleen morphology	3988	LIPA	ORPHA:75233
HP:0025408	Abnormal spleen morphology	3988	LIPA	ORPHA:75234
HP:0025408	Abnormal spleen morphology	3988	LIPA	OMIM:620151
HP:0025408	Abnormal spleen morphology	3988	LIPA	OMIM:278000
HP:0025408	Abnormal spleen morphology	5264	PHYH	ORPHA:773
HP:0025408	Abnormal spleen morphology	5191	PEX7	ORPHA:773
HP:0025408	Abnormal spleen morphology	940	CD28	ORPHA:3162
HP:0025408	Abnormal spleen morphology	940	CD28	ORPHA:2584
HP:0025408	Abnormal spleen morphology	7133	TNFRSF1B	ORPHA:3162
HP:0025408	Abnormal spleen morphology	7133	TNFRSF1B	ORPHA:2584
HP:0025408	Abnormal spleen morphology	7390	UROS	OMIM:263700
HP:0025408	Abnormal spleen morphology	7390	UROS	ORPHA:79277
HP:0025408	Abnormal spleen morphology	4938	OAS1	OMIM:618042
HP:0025408	Abnormal spleen morphology	8651	SOCS1	OMIM:619375
HP:0025408	Abnormal spleen morphology	3295	HSD17B4	OMIM:261515
HP:0025408	Abnormal spleen morphology	2624	GATA2	ORPHA:228423
HP:0025408	Abnormal spleen morphology	138050	HGSNAT	OMIM:252930
HP:0025408	Abnormal spleen morphology	25913	POT1	OMIM:620367
HP:0025408	Abnormal spleen morphology	5313	PKLR	ORPHA:766
HP:0025408	Abnormal spleen morphology	5313	PKLR	OMIM:266200
HP:0025408	Abnormal spleen morphology	6850	SYK	OMIM:619381
HP:0025408	Abnormal spleen morphology	613	BCR	ORPHA:521
HP:0025408	Abnormal spleen morphology	25	ABL1	ORPHA:521
HP:0025408	Abnormal spleen morphology	861	RUNX1	ORPHA:521
HP:0025408	Abnormal spleen morphology	51626	DYNC2LI1	OMIM:617088
HP:0025408	Abnormal spleen morphology	5257	PHKB	OMIM:261750
HP:0025408	Abnormal spleen morphology	5257	PHKB	ORPHA:79240
HP:0025408	Abnormal spleen morphology	146059	CDAN1	OMIM:224120
HP:0025408	Abnormal spleen morphology	9652	SKIC3	ORPHA:84064
HP:0025408	Abnormal spleen morphology	9652	SKIC3	OMIM:222470
HP:0025408	Abnormal spleen morphology	6499	SKIC2	ORPHA:84064
HP:0025408	Abnormal spleen morphology	10535	RNASEH2A	OMIM:610333
HP:0025408	Abnormal spleen morphology	5696	PSMB8	OMIM:256040
HP:0025408	Abnormal spleen morphology	4669	NAGLU	OMIM:252920
HP:0025408	Abnormal spleen morphology	4067	LYN	OMIM:620376
HP:0025408	Abnormal spleen morphology	26276	VPS33B	OMIM:620010
HP:0025408	Abnormal spleen morphology	8085	KMT2D	OMIM:147920
HP:0025408	Abnormal spleen morphology	7403	KDM6A	OMIM:147920
HP:0025408	Abnormal spleen morphology	4352	MPL	ORPHA:71493
HP:0025408	Abnormal spleen morphology	4352	MPL	ORPHA:824
HP:0025408	Abnormal spleen morphology	4352	MPL	ORPHA:3318
HP:0025408	Abnormal spleen morphology	4352	MPL	OMIM:254450
HP:0025408	Abnormal spleen morphology	7066	THPO	ORPHA:71493
HP:0025408	Abnormal spleen morphology	7066	THPO	OMIM:187950
HP:0025408	Abnormal spleen morphology	356	FASLG	ORPHA:3261
HP:0025408	Abnormal spleen morphology	356	FASLG	OMIM:601859
HP:0025408	Abnormal spleen morphology	843	CASP10	ORPHA:3261
HP:0025408	Abnormal spleen morphology	843	CASP10	OMIM:603909
HP:0025408	Abnormal spleen morphology	2811	GP1BA	OMIM:153670
HP:0025408	Abnormal spleen morphology	144811	LACC1	ORPHA:85414
HP:0025408	Abnormal spleen morphology	4282	MIF	ORPHA:85414
HP:0025408	Abnormal spleen morphology	3569	IL6	ORPHA:85414
HP:0025408	Abnormal spleen morphology	6521	SLC4A1	OMIM:185020
HP:0025408	Abnormal spleen morphology	6521	SLC4A1	ORPHA:822
HP:0025408	Abnormal spleen morphology	6521	SLC4A1	OMIM:612653
HP:0025408	Abnormal spleen morphology	6521	SLC4A1	ORPHA:3202
HP:0025408	Abnormal spleen morphology	55532	SLC30A10	ORPHA:309854
HP:0025408	Abnormal spleen morphology	57539	WDR35	OMIM:613610
HP:0025408	Abnormal spleen morphology	171023	ASXL1	ORPHA:98849
HP:0025408	Abnormal spleen morphology	3815	KIT	ORPHA:98849
HP:0025408	Abnormal spleen morphology	6427	SRSF2	ORPHA:98849
HP:0025408	Abnormal spleen morphology	987	LRBA	OMIM:614700
HP:0025408	Abnormal spleen morphology	857	CAV1	OMIM:612526
HP:0025408	Abnormal spleen morphology	4758	NEU1	OMIM:256550
HP:0025408	Abnormal spleen morphology	4758	NEU1	ORPHA:812
HP:0025408	Abnormal spleen morphology	7174	TPP2	ORPHA:444463
HP:0025408	Abnormal spleen morphology	2038	EPB42	ORPHA:822
HP:0025408	Abnormal spleen morphology	2038	EPB42	OMIM:612690
HP:0025408	Abnormal spleen morphology	23149	FCHO1	OMIM:619164
HP:0025408	Abnormal spleen morphology	1352	COX10	OMIM:619046
HP:0025408	Abnormal spleen morphology	841	CASP8	OMIM:607271
HP:0025408	Abnormal spleen morphology	7535	ZAP70	OMIM:269840
HP:0025408	Abnormal spleen morphology	3604	TNFRSF9	OMIM:620282
HP:0025408	Abnormal spleen morphology	2533	FYB1	OMIM:273900
HP:0025408	Abnormal spleen morphology	6005	RHAG	OMIM:185000
HP:0025408	Abnormal spleen morphology	6005	RHAG	ORPHA:3203
HP:0025408	Abnormal spleen morphology	8647	ABCB11	OMIM:601847
HP:0025408	Abnormal spleen morphology	5699	PSMB10	OMIM:619175
HP:0025408	Abnormal spleen morphology	348	APOE	OMIM:269600
HP:0025408	Abnormal spleen morphology	348	APOE	ORPHA:158029
HP:0025408	Abnormal spleen morphology	92579	G6PC3	OMIM:612541
HP:0025408	Abnormal spleen morphology	6786	STIM1	OMIM:612783
HP:0025408	Abnormal spleen morphology	5468	PPARG	ORPHA:79083
HP:0025408	Abnormal spleen morphology	686	BTD	OMIM:253260
HP:0025408	Abnormal spleen morphology	8792	TNFRSF11A	OMIM:612301
HP:0025408	Abnormal spleen morphology	8546	AP3B1	OMIM:608233
HP:0025408	Abnormal spleen morphology	10555	AGPAT2	OMIM:608594
HP:0025408	Abnormal spleen morphology	56984	PSMG2	OMIM:619183
HP:0025408	Abnormal spleen morphology	1717	DHCR7	OMIM:270400
HP:0025408	Abnormal spleen morphology	23230	VPS13A	ORPHA:2388
HP:0025408	Abnormal spleen morphology	526	ATP6V1B2	ORPHA:3473
HP:0025408	Abnormal spleen morphology	3782	KCNN3	ORPHA:3473
HP:0025408	Abnormal spleen morphology	3425	IDUA	OMIM:607014
HP:0025408	Abnormal spleen morphology	3425	IDUA	OMIM:607015
HP:0025408	Abnormal spleen morphology	3425	IDUA	ORPHA:93474
HP:0025408	Abnormal spleen morphology	3425	IDUA	ORPHA:93473
HP:0025408	Abnormal spleen morphology	3425	IDUA	ORPHA:93476
HP:0025408	Abnormal spleen morphology	175	AGA	ORPHA:93
HP:0025408	Abnormal spleen morphology	4853	NOTCH2	ORPHA:955
HP:0025408	Abnormal spleen morphology	338328	GPIHBP1	OMIM:615947
HP:0025408	Abnormal spleen morphology	80216	ALPK1	OMIM:614979
HP:0025408	Abnormal spleen morphology	3055	HCK	OMIM:620296
HP:0025408	Abnormal spleen morphology	2243	FGA	OMIM:105200
HP:0025408	Abnormal spleen morphology	7840	ALMS1	ORPHA:64
HP:0025408	Abnormal spleen morphology	472	ATM	ORPHA:52416
HP:0025408	Abnormal spleen morphology	9508	ADAMTS3	ORPHA:2136
HP:0025408	Abnormal spleen morphology	147372	CCBE1	ORPHA:2136
HP:0025408	Abnormal spleen morphology	79633	FAT4	ORPHA:2136
HP:0025408	Abnormal spleen morphology	5828	PEX2	OMIM:614866
HP:0025408	Abnormal spleen morphology	6609	SMPD1	OMIM:257200
HP:0025408	Abnormal spleen morphology	6609	SMPD1	ORPHA:77293
HP:0025408	Abnormal spleen morphology	6609	SMPD1	OMIM:607616
HP:0025408	Abnormal spleen morphology	5293	PIK3CD	ORPHA:397596
HP:0025408	Abnormal spleen morphology	5293	PIK3CD	OMIM:615513
HP:0025408	Abnormal spleen morphology	6288	SAA1	ORPHA:85445
HP:0025408	Abnormal spleen morphology	64135	IFIH1	OMIM:615846
HP:0025408	Abnormal spleen morphology	3662	IRF4	ORPHA:3452
HP:0025408	Abnormal spleen morphology	8813	DPM1	OMIM:608799
HP:0025408	Abnormal spleen morphology	50943	FOXP3	ORPHA:37042
HP:0025408	Abnormal spleen morphology	50628	GEMIN4	OMIM:617913
HP:0025408	Abnormal spleen morphology	57817	HAMP	OMIM:613313
HP:0025408	Abnormal spleen morphology	84317	CCDC115	OMIM:616828
HP:0025408	Abnormal spleen morphology	9780	PIEZO1	ORPHA:3202
HP:0025408	Abnormal spleen morphology	9780	PIEZO1	OMIM:616843
HP:0025408	Abnormal spleen morphology	9780	PIEZO1	OMIM:194380
HP:0025408	Abnormal spleen morphology	64241	ABCG8	OMIM:210250
HP:0025408	Abnormal spleen morphology	64241	ABCG8	ORPHA:2882
HP:0025408	Abnormal spleen morphology	28962	OSTM1	OMIM:259720
HP:0025408	Abnormal spleen morphology	93183	PIGM	OMIM:610293
HP:0025408	Abnormal spleen morphology	867	CBL	OMIM:613563
HP:0025408	Abnormal spleen morphology	7157	TP53	ORPHA:3318
HP:0025408	Abnormal spleen morphology	284119	CAVIN1	OMIM:613327
HP:0025408	Abnormal spleen morphology	57410	SCYL1	OMIM:616719
HP:0025408	Abnormal spleen morphology	219285	SAMD9L	ORPHA:2585
HP:0025408	Abnormal spleen morphology	6888	TALDO1	OMIM:606003
HP:0025408	Abnormal spleen morphology	56052	ALG1	OMIM:608540
HP:0025408	Abnormal spleen morphology	91949	COG7	OMIM:608779
HP:0025408	Abnormal spleen morphology	7167	TPI1	OMIM:615512
HP:0025408	Abnormal spleen morphology	26160	IFT172	OMIM:615630
HP:0025408	Abnormal spleen morphology	84529	CDIN1	OMIM:615631
HP:0025408	Abnormal spleen morphology	79848	CSPP1	OMIM:615636
HP:0025408	Abnormal spleen morphology	6513	SLC2A1	OMIM:612126
HP:0025408	Abnormal spleen morphology	6513	SLC2A1	OMIM:608885
HP:0025408	Abnormal spleen morphology	11133	KPTN	OMIM:615637
HP:0025408	Abnormal spleen morphology	5156	PDGFRA	OMIM:607685
HP:0025408	Abnormal spleen morphology	79796	ALG9	OMIM:608776
HP:0025408	Abnormal spleen morphology	1776	DNASE1L3	ORPHA:36412
HP:0025408	Abnormal spleen morphology	4173	MCM4	OMIM:609981
HP:0025408	Abnormal spleen morphology	79650	USB1	OMIM:604173
HP:0025408	Abnormal spleen morphology	79650	USB1	ORPHA:1775
HP:0025408	Abnormal spleen morphology	411	ARSB	OMIM:253200
HP:0025408	Abnormal spleen morphology	669	BPGM	OMIM:222800
HP:0025408	Abnormal spleen morphology	91147	TMEM67	OMIM:216360
HP:0025408	Abnormal spleen morphology	91147	TMEM67	ORPHA:1454
HP:0025408	Abnormal spleen morphology	9948	WDR1	OMIM:150550
HP:0025408	Abnormal spleen morphology	4792	NFKBIA	OMIM:612132
HP:0025408	Abnormal spleen morphology	169792	GLIS3	OMIM:610199
HP:0025408	Abnormal spleen morphology	9076	CLDN1	ORPHA:59303
HP:0025408	Abnormal spleen morphology	9076	CLDN1	OMIM:607626
HP:0025408	Abnormal spleen morphology	9663	LPIN2	ORPHA:77297
HP:0025408	Abnormal spleen morphology	3930	LBR	OMIM:613471
HP:0025408	Abnormal spleen morphology	51218	GLRX5	OMIM:616860
HP:0025408	Abnormal spleen morphology	2821	GPI	OMIM:613470
HP:0025408	Abnormal spleen morphology	6097	RORC	OMIM:616622
HP:0025408	Abnormal spleen morphology	4358	MPV17	OMIM:256810
HP:0025408	Abnormal spleen morphology	10616	RBCK1	OMIM:615895
HP:0025408	Abnormal spleen morphology	56244	BTNL2	OMIM:612387
HP:0025408	Abnormal spleen morphology	6663	SOX10	ORPHA:163746
HP:0025408	Abnormal spleen morphology	3248	HPGD	ORPHA:2796
HP:0025408	Abnormal spleen morphology	6578	SLCO2A1	ORPHA:2796
HP:0025408	Abnormal spleen morphology	9056	SLC7A7	OMIM:222700
HP:0025408	Abnormal spleen morphology	57511	COG6	OMIM:614576
HP:0025408	Abnormal spleen morphology	427	ASAH1	OMIM:228000
HP:0025408	Abnormal spleen morphology	56623	INPP5E	ORPHA:1454
HP:0025408	Abnormal spleen morphology	23322	RPGRIP1L	ORPHA:1454
HP:0025408	Abnormal spleen morphology	57545	CC2D2A	ORPHA:1454
HP:0025408	Abnormal spleen morphology	25839	COG4	OMIM:613489
HP:0025408	Abnormal spleen morphology	4790	NFKB1	ORPHA:1572
HP:0025408	Abnormal spleen morphology	4791	NFKB2	ORPHA:1572
HP:0025408	Abnormal spleen morphology	8742	TNFSF12	ORPHA:1572
HP:0025408	Abnormal spleen morphology	931	MS4A1	ORPHA:1572
HP:0025408	Abnormal spleen morphology	975	CD81	ORPHA:1572
HP:0025408	Abnormal spleen morphology	359948	IRF2BP2	ORPHA:1572
HP:0025408	Abnormal spleen morphology	5873	RAB27A	ORPHA:79477
HP:0025408	Abnormal spleen morphology	2328	FMO3	OMIM:602079
HP:0025408	Abnormal spleen morphology	5265	SERPINA1	OMIM:613490
HP:0025408	Abnormal spleen morphology	10367	MICU1	OMIM:615673
HP:0025408	Abnormal spleen morphology	26580	BSCL2	OMIM:269700
HP:0025408	Abnormal spleen morphology	3702	ITK	OMIM:613011
HP:0025408	Abnormal spleen morphology	2517	FUCA1	OMIM:230000
HP:0025408	Abnormal spleen morphology	2548	GAA	OMIM:232300
HP:0025408	Abnormal spleen morphology	5580	PRKCD	OMIM:615559
HP:0025408	Abnormal spleen morphology	5205	ATP8B1	OMIM:211600
HP:0025408	Abnormal spleen morphology	2065	ERBB3	OMIM:133180
HP:0025408	Abnormal spleen morphology	7040	TGFB1	ORPHA:1328
HP:0025408	Abnormal spleen morphology	3594	IL12RB1	ORPHA:186
HP:0025408	Abnormal spleen morphology	23534	TNPO3	ORPHA:186
HP:0025408	Abnormal spleen morphology	6689	SPIB	ORPHA:186
HP:0025408	Abnormal spleen morphology	5450	POU2AF1	ORPHA:186
HP:0025408	Abnormal spleen morphology	9966	TNFSF15	ORPHA:186
HP:0025408	Abnormal spleen morphology	79258	MMEL1	ORPHA:186
HP:0025408	Abnormal spleen morphology	3663	IRF5	ORPHA:186
HP:0025408	Abnormal spleen morphology	1718	DHCR24	ORPHA:35107
HP:0025408	Abnormal spleen morphology	3845	KRAS	OMIM:614470
HP:0025408	Abnormal spleen morphology	27031	NPHP3	OMIM:208540
HP:0025408	Abnormal spleen morphology	100151683	RNU4ATAC	OMIM:616651
HP:0025408	Abnormal spleen morphology	83737	ITCH	OMIM:613385
HP:0025408	Abnormal spleen morphology	51816	ADA2	OMIM:615688
HP:0025408	Abnormal spleen morphology	3098	HK1	OMIM:235700
HP:0025408	Abnormal spleen morphology	3931	LCAT	ORPHA:79292
HP:0025408	Abnormal spleen morphology	100506658	OCLN	OMIM:251290
HP:0025408	Abnormal spleen morphology	5294	PIK3CG	OMIM:619802
HP:0025408	Abnormal spleen morphology	64240	ABCG5	ORPHA:2882
HP:0025408	Abnormal spleen morphology	10577	NPC2	OMIM:607625
HP:0025408	Abnormal spleen morphology	2819	GPD1	OMIM:614480
HP:0025408	Abnormal spleen morphology	139818	DOCK11	OMIM:301109
HP:0025408	Abnormal spleen morphology	10020	GNE	OMIM:269921
HP:0025408	Abnormal spleen morphology	26503	SLC17A5	OMIM:269920
HP:0025408	Abnormal spleen morphology	27040	LAT	OMIM:617514
HP:0025408	Abnormal spleen morphology	4724	NDUFS4	OMIM:252010
HP:0025408	Abnormal spleen morphology	3458	IFNG	OMIM:618963
HP:0025408	Abnormal spleen morphology	81570	CLPB	OMIM:619813
HP:0025408	Abnormal spleen morphology	139886	SPIN4	OMIM:301114
HP:0025408	Abnormal spleen morphology	8737	RIPK1	OMIM:618852
HP:0025408	Abnormal spleen morphology	28985	MCTS1	OMIM:301115
HP:0025408	Abnormal spleen morphology	10464	PIBF1	OMIM:617767
HP:0025408	Abnormal spleen morphology	80169	CTC1	ORPHA:1775
HP:0025408	Abnormal spleen morphology	26277	TINF2	ORPHA:1775
HP:0025408	Abnormal spleen morphology	55651	NHP2	ORPHA:1775
HP:0025408	Abnormal spleen morphology	55135	WRAP53	ORPHA:1775
HP:0025408	Abnormal spleen morphology	51750	RTEL1	ORPHA:1775
HP:0025408	Abnormal spleen morphology	4869	NPM1	ORPHA:1775
HP:0025408	Abnormal spleen morphology	7012	TERC	ORPHA:1775
HP:0025408	Abnormal spleen morphology	55505	NOP10	ORPHA:1775
HP:0025408	Abnormal spleen morphology	5073	PARN	ORPHA:1775
HP:0025408	Abnormal spleen morphology	7015	TERT	ORPHA:1775
HP:0025408	Abnormal spleen morphology	1736	DKC1	ORPHA:1775
HP:0025408	Abnormal spleen morphology	7298	TYMS	ORPHA:1775
HP:0025408	Abnormal spleen morphology	3636	INPPL1	ORPHA:2746
HP:0025408	Abnormal spleen morphology	6929	TCF3	OMIM:619824
HP:0025408	Abnormal spleen morphology	2582	GALE	OMIM:230350
HP:0025408	Abnormal spleen morphology	2294	FOXF1	OMIM:265380
HP:0025408	Abnormal spleen morphology	2294	FOXF1	ORPHA:210122
HP:0025408	Abnormal spleen morphology	326	AIRE	OMIM:240300
HP:0025408	Abnormal spleen morphology	55329	MNS1	OMIM:618948
HP:0025408	Abnormal spleen morphology	4087	SMAD2	OMIM:619657
HP:0025408	Abnormal spleen morphology	284086	NEK8	OMIM:615415
HP:0025408	Abnormal spleen morphology	7473	WNT3	OMIM:273395
HP:0025408	Abnormal spleen morphology	4838	NODAL	OMIM:270100
HP:0025408	Abnormal spleen morphology	84876	ORAI1	ORPHA:3204
HP:0025408	Abnormal spleen morphology	9839	ZEB2	ORPHA:261537
HP:0025408	Abnormal spleen morphology	9839	ZEB2	ORPHA:261552
HP:0025408	Abnormal spleen morphology	3162	HMOX1	OMIM:614034
HP:0025408	Abnormal spleen morphology	90416	CCDC32	OMIM:619123
HP:0025408	Abnormal spleen morphology	7291	TWIST1	OMIM:617746
HP:0025408	Abnormal spleen morphology	3921	RPSA	OMIM:271400
HP:0025408	Abnormal spleen morphology	63901	FAM111A	OMIM:602361
HP:0025408	Abnormal spleen morphology	745	MYRF	OMIM:618280
HP:0025408	Abnormal spleen morphology	157570	ESCO2	OMIM:268300
HP:0025408	Abnormal spleen morphology	84314	TMEM107	ORPHA:564
HP:0025408	Abnormal spleen morphology	26123	TCTN3	ORPHA:564
HP:0025408	Abnormal spleen morphology	79867	TCTN2	ORPHA:564
HP:0025408	Abnormal spleen morphology	80776	B9D2	ORPHA:564
HP:0025408	Abnormal spleen morphology	79600	TCTN1	ORPHA:564
HP:0025408	Abnormal spleen morphology	57096	RPGRIP1	ORPHA:564
HP:0025408	Abnormal spleen morphology	80184	CEP290	ORPHA:564
HP:0025408	Abnormal spleen morphology	51259	TMEM216	ORPHA:564
HP:0025408	Abnormal spleen morphology	79583	TMEM231	ORPHA:564
HP:0025408	Abnormal spleen morphology	79770	TXNDC15	ORPHA:564
HP:0025408	Abnormal spleen morphology	27077	B9D1	ORPHA:564
HP:0025408	Abnormal spleen morphology	65062	TMEM237	ORPHA:564
HP:0025408	Abnormal spleen morphology	7490	WT1	OMIM:608978
HP:0025408	Abnormal spleen morphology	2033	EP300	OMIM:180849
HP:0025408	Abnormal spleen morphology	1387	CREBBP	OMIM:180849
HP:0025408	Abnormal spleen morphology	8425	LTBP4	OMIM:613177
HP:0025408	Abnormal spleen morphology	4613	MYCN	OMIM:164280
HP:0025408	Abnormal spleen morphology	55012	PPP2R3C	OMIM:618419
HP:0025408	Abnormal spleen morphology	5557	PRIM1	OMIM:620005
HP:0025408	Abnormal spleen morphology	55770	EXOC2	OMIM:619306
HP:0025408	Abnormal spleen morphology	7468	NSD2	OMIM:194190
HP:0025408	Abnormal spleen morphology	10815	CPLX1	OMIM:194190
HP:0025408	Abnormal spleen morphology	1487	CTBP1	OMIM:194190
HP:0025408	Abnormal spleen morphology	53834	FGFRL1	OMIM:194190
HP:0025408	Abnormal spleen morphology	3954	LETM1	OMIM:194190
HP:0025408	Abnormal spleen morphology	1063	CENPF	OMIM:243605
HP:0025408	Abnormal spleen morphology	219844	HYLS1	OMIM:236680
HP:0025408	Abnormal spleen morphology	7547	ZIC3	OMIM:306955
HP:0025408	Abnormal spleen morphology	2657	GDF1	OMIM:208530
HP:0025408	Abnormal spleen morphology	50937	CDON	OMIM:614226
HP:0025408	Abnormal spleen morphology	79645	CLXN	OMIM:620642
HP:0025408	Abnormal spleen morphology	118856	MMP21	OMIM:616749
HP:0025408	Abnormal spleen morphology	25981	DNAH1	ORPHA:244
HP:0025408	Abnormal spleen morphology	115948	ODAD3	ORPHA:244
HP:0025408	Abnormal spleen morphology	54768	HYDIN	ORPHA:244
HP:0025408	Abnormal spleen morphology	352909	DNAAF3	ORPHA:244
HP:0025408	Abnormal spleen morphology	27148	STK36	ORPHA:244
HP:0025408	Abnormal spleen morphology	51314	NME8	ORPHA:244
HP:0025408	Abnormal spleen morphology	92749	DRC1	ORPHA:244
HP:0025408	Abnormal spleen morphology	54970	TTC12	ORPHA:244
HP:0025408	Abnormal spleen morphology	152110	NEK10	ORPHA:244
HP:0025408	Abnormal spleen morphology	8481	OFD1	ORPHA:244
HP:0025408	Abnormal spleen morphology	2302	FOXJ1	ORPHA:244
HP:0025408	Abnormal spleen morphology	221421	RSPH9	ORPHA:244
HP:0025408	Abnormal spleen morphology	85478	CCDC65	ORPHA:244
HP:0025408	Abnormal spleen morphology	55036	CCDC40	ORPHA:244
HP:0025408	Abnormal spleen morphology	51364	ZMYND10	ORPHA:244
HP:0025408	Abnormal spleen morphology	64446	DNAI2	ORPHA:244
HP:0025408	Abnormal spleen morphology	8382	NME5	ORPHA:244
HP:0025408	Abnormal spleen morphology	6674	SPAG1	ORPHA:244
HP:0025408	Abnormal spleen morphology	83544	DNAL1	ORPHA:244
HP:0025408	Abnormal spleen morphology	89765	RSPH1	ORPHA:244
HP:0025408	Abnormal spleen morphology	83538	ODAD4	ORPHA:244
HP:0025408	Abnormal spleen morphology	200373	CFAP221	ORPHA:244
HP:0025408	Abnormal spleen morphology	374407	DNAJB13	ORPHA:244
HP:0025408	Abnormal spleen morphology	55172	DNAAF2	ORPHA:244
HP:0025408	Abnormal spleen morphology	161582	DNAAF4	ORPHA:244
HP:0025408	Abnormal spleen morphology	161582	DNAAF4	OMIM:615482
HP:0025408	Abnormal spleen morphology	2622	GAS8	ORPHA:244
HP:0025408	Abnormal spleen morphology	23639	DNAAF11	ORPHA:244
HP:0025408	Abnormal spleen morphology	27019	DNAI1	ORPHA:244
HP:0025408	Abnormal spleen morphology	345895	RSPH4A	ORPHA:244
HP:0025408	Abnormal spleen morphology	54919	DNAAF5	ORPHA:244
HP:0025408	Abnormal spleen morphology	6103	RPGR	ORPHA:244
HP:0025408	Abnormal spleen morphology	85452	CFAP74	ORPHA:244
HP:0025408	Abnormal spleen morphology	93233	ODAD1	ORPHA:244
HP:0025408	Abnormal spleen morphology	55130	ODAD2	ORPHA:244
HP:0025408	Abnormal spleen morphology	1767	DNAH5	ORPHA:244
HP:0025408	Abnormal spleen morphology	83861	RSPH3	ORPHA:244
HP:0025408	Abnormal spleen morphology	345643	MCIDAS	ORPHA:244
HP:0025408	Abnormal spleen morphology	56683	CFAP298	ORPHA:244
HP:0025408	Abnormal spleen morphology	79925	SPEF2	ORPHA:244
HP:0025408	Abnormal spleen morphology	10309	CCNO	ORPHA:244
HP:0025408	Abnormal spleen morphology	115399	LRRC56	ORPHA:244
HP:0025408	Abnormal spleen morphology	139212	DNAAF6	ORPHA:244
HP:0025408	Abnormal spleen morphology	123872	DNAAF1	ORPHA:244
HP:0025408	Abnormal spleen morphology	85016	CFAP300	ORPHA:244
HP:0025408	Abnormal spleen morphology	339829	CCDC39	ORPHA:244
HP:0025408	Abnormal spleen morphology	339829	CCDC39	OMIM:613807
HP:0025408	Abnormal spleen morphology	8701	DNAH11	ORPHA:244
HP:0025408	Abnormal spleen morphology	1770	DNAH9	ORPHA:244
HP:0025408	Abnormal spleen morphology	246176	GAS2L2	ORPHA:244
HP:0025408	Abnormal spleen morphology	51715	RAB23	OMIM:201000
HP:0025408	Abnormal spleen morphology	51715	RAB23	ORPHA:65759
HP:0025408	Abnormal spleen morphology	55159	RFWD3	OMIM:617784
HP:0025408	Abnormal spleen morphology	25790	CFAP45	OMIM:619608
HP:0025408	Abnormal spleen morphology	1954	MEGF8	ORPHA:65759
HP:0025408	Abnormal spleen morphology	55997	CFC1	OMIM:605376
HP:0025408	Abnormal spleen morphology	54809	SAMD9	OMIM:617053
HP:0025408	Abnormal spleen morphology	55388	MCM10	OMIM:619313
HP:0025408	Abnormal spleen morphology	5649	RELN	ORPHA:89844
HP:0025408	Abnormal spleen morphology	10300	KATNB1	ORPHA:89844
HP:0025408	Abnormal spleen morphology	54820	NDE1	ORPHA:89844
HP:0025408	Abnormal spleen morphology	93	ACVR2B	OMIM:613751
HP:0025408	Abnormal spleen morphology	2266	FGG	OMIM:202400
HP:0025408	Abnormal spleen morphology	2244	FGB	OMIM:202400
HP:0025408	Abnormal spleen morphology	64220	STRA6	ORPHA:2470
HP:0025408	Abnormal spleen morphology	7477	WNT7B	ORPHA:2470
HP:0025408	Abnormal spleen morphology	5915	RARB	ORPHA:2470
HP:0025408	Abnormal spleen morphology	374879	ZNF699	OMIM:619488
HP:0025408	Abnormal spleen morphology	2934	GSN	ORPHA:85448
HP:0025408	Abnormal spleen morphology	90952	ESAM	OMIM:620371
HP:0025408	Abnormal spleen morphology	26040	SETBP1	OMIM:269150
HP:0025409	Abnormal spleen physiology	9968	MED12	OMIM:301068
HP:0025409	Abnormal spleen physiology	171023	ASXL1	ORPHA:98850
HP:0025409	Abnormal spleen physiology	54790	TET2	ORPHA:98850
HP:0025409	Abnormal spleen physiology	867	CBL	ORPHA:98850
HP:0025409	Abnormal spleen physiology	861	RUNX1	ORPHA:98850
HP:0025409	Abnormal spleen physiology	6427	SRSF2	ORPHA:98850
HP:0025409	Abnormal spleen physiology	355	FAS	ORPHA:3261
HP:0025409	Abnormal spleen physiology	356	FASLG	ORPHA:3261
HP:0025409	Abnormal spleen physiology	843	CASP10	ORPHA:3261
HP:0025409	Abnormal spleen physiology	6609	SMPD1	ORPHA:77293
HP:0025409	Abnormal spleen physiology	2629	GBA1	OMIM:230800
HP:0025409	Abnormal spleen physiology	2629	GBA1	ORPHA:77259
HP:0025409	Abnormal spleen physiology	3043	HBB	ORPHA:231226
HP:0025409	Abnormal spleen physiology	3043	HBB	ORPHA:231214
HP:0025409	Abnormal spleen physiology	83737	ITCH	OMIM:613385
HP:0025409	Abnormal spleen physiology	83737	ITCH	ORPHA:228426
HP:0025409	Abnormal spleen physiology	7289	TULP3	OMIM:619902
HP:0025409	Abnormal spleen physiology	3988	LIPA	OMIM:278000
HP:0025409	Abnormal spleen physiology	4851	NOTCH1	OMIM:616028
HP:0025409	Abnormal spleen physiology	199221	DZIP1L	ORPHA:731
HP:0025409	Abnormal spleen physiology	5314	PKHD1	ORPHA:731
HP:0025409	Abnormal spleen physiology	5660	PSAP	OMIM:610539
HP:0025409	Abnormal spleen physiology	950	SCARB2	ORPHA:77259
HP:0030707	Unilateral lung agenesis	6651	SON	OMIM:617140
HP:0030707	Unilateral lung agenesis	6651	SON	ORPHA:500150
HP:0030708	Myeloschisis	81839	VANGL1	OMIM:600145
HP:0007824	Total ophthalmoplegia	6792	CDKL5	ORPHA:3095
HP:0007824	Total ophthalmoplegia	22854	NTNG1	ORPHA:3095
HP:0007824	Total ophthalmoplegia	9568	GABBR2	ORPHA:3095
HP:0007824	Total ophthalmoplegia	4204	MECP2	ORPHA:3095
HP:0007824	Total ophthalmoplegia	8243	SMC1A	ORPHA:3095
HP:0007824	Total ophthalmoplegia	5428	POLG	OMIM:157640
HP:0007824	Total ophthalmoplegia	2902	GRIN1	ORPHA:208447
HP:0007824	Total ophthalmoplegia	91147	TMEM67	OMIM:602152
HP:0007827	Nodular corneal dystrophy	7045	TGFBI	OMIM:121900
HP:0007834	Progressive cataract	1409	CRYAA	OMIM:604219
HP:0007834	Progressive cataract	8419	BFSP2	OMIM:611597
HP:0007835	S-shaped palpebral fissures	2972	BRF1	ORPHA:444072
HP:0007835	S-shaped palpebral fissures	668	FOXL2	ORPHA:572333
HP:0025416	Vaginal stricture	1294	COL7A1	ORPHA:79409
HP:0025419	Pulmonary pneumatocele	6774	STAT3	ORPHA:2314
HP:0025419	Pulmonary pneumatocele	81704	DOCK8	OMIM:243700
HP:0025419	Pulmonary pneumatocele	10092	ARPC5	OMIM:620565
HP:0025419	Pulmonary pneumatocele	3572	IL6ST	OMIM:619752
HP:0030717	Meconium peritonitis	8318	CDC45	OMIM:617063
HP:0030718	Right atrial enlargement	6910	TBX5	OMIM:142900
HP:0030718	Right atrial enlargement	6123	RPL3L	OMIM:619371
HP:0030718	Right atrial enlargement	7092	TLL1	ORPHA:99103
HP:0030718	Right atrial enlargement	7092	TLL1	ORPHA:99106
HP:0030718	Right atrial enlargement	57057	TBX20	ORPHA:99103
HP:0030718	Right atrial enlargement	4624	MYH6	ORPHA:99103
HP:0030718	Right atrial enlargement	1482	NKX2-5	ORPHA:99103
HP:0030718	Right atrial enlargement	70	ACTC1	ORPHA:99103
HP:0030718	Right atrial enlargement	10370	CITED2	ORPHA:99103
HP:0030718	Right atrial enlargement	2626	GATA4	ORPHA:99103
HP:0030718	Right atrial enlargement	2627	GATA6	ORPHA:99103
HP:0030718	Right atrial enlargement	2316	FLNA	ORPHA:555877
HP:0030718	Right atrial enlargement	55388	MCM10	OMIM:619313
HP:0030718	Right atrial enlargement	4607	MYBPC3	OMIM:115197
HP:0030718	Right atrial enlargement	4633	MYL2	OMIM:619424
HP:0030718	Right atrial enlargement	368	ABCC6	OMIM:614473
HP:0030718	Right atrial enlargement	2318	FLNC	OMIM:617047
HP:0030718	Right atrial enlargement	2318	FLNC	ORPHA:75249
HP:0030718	Right atrial enlargement	10848	PPP1R13L	OMIM:620519
HP:0030718	Right atrial enlargement	4851	NOTCH1	OMIM:616028
HP:0030718	Right atrial enlargement	8815	BANF1	OMIM:614008
HP:0030718	Right atrial enlargement	8777	MPDZ	OMIM:615219
HP:0030718	Right atrial enlargement	7139	TNNT2	OMIM:612422
HP:0030718	Right atrial enlargement	7139	TNNT2	ORPHA:75249
HP:0030718	Right atrial enlargement	84665	MYPN	ORPHA:75249
HP:0030718	Right atrial enlargement	7137	TNNI3	ORPHA:75249
HP:0030718	Right atrial enlargement	10112	KIF20A	ORPHA:75249
HP:0030718	Right atrial enlargement	10551	AGR2	OMIM:620233
HP:0030716	Acrania	4659	PPP1R12A	OMIM:618820
HP:0030713	Vein of Galen aneurysmal malformation	2050	EPHB4	ORPHA:137667
HP:0030713	Vein of Galen aneurysmal malformation	2050	EPHB4	OMIM:618196
HP:0030713	Vein of Galen aneurysmal malformation	5921	RASA1	ORPHA:137667
HP:0030713	Vein of Galen aneurysmal malformation	1906	EDN1	ORPHA:137888
HP:0030713	Vein of Galen aneurysmal malformation	5332	PLCB4	ORPHA:137888
HP:0030713	Vein of Galen aneurysmal malformation	2773	GNAI3	ORPHA:137888
HP:0007836	Mosaic corneal dystrophy	91851	CHRDL1	OMIM:309300
HP:0033977	Talar aplasia	2019	EN1	OMIM:619218
HP:0033978	Reduced beta-hexosaminidase B activity	3074	HEXB	ORPHA:309162
HP:0033978	Reduced beta-hexosaminidase B activity	3074	HEXB	ORPHA:309155
HP:0033978	Reduced beta-hexosaminidase B activity	3074	HEXB	ORPHA:309169
HP:0033978	Reduced beta-hexosaminidase B activity	3074	HEXB	OMIM:268800
HP:0025420	Diffuse alveolar hemorrhage	1281	COL3A1	OMIM:130050
HP:0025420	Diffuse alveolar hemorrhage	6774	STAT3	ORPHA:520
HP:0025420	Diffuse alveolar hemorrhage	5371	PML	ORPHA:520
HP:0025420	Diffuse alveolar hemorrhage	5914	RARA	ORPHA:520
HP:0025420	Diffuse alveolar hemorrhage	359948	IRF2BP2	ORPHA:520
HP:0025420	Diffuse alveolar hemorrhage	81608	FIP1L1	ORPHA:520
HP:0025420	Diffuse alveolar hemorrhage	4869	NPM1	ORPHA:520
HP:0025420	Diffuse alveolar hemorrhage	5573	PRKAR1A	ORPHA:520
HP:0025420	Diffuse alveolar hemorrhage	54880	BCOR	ORPHA:520
HP:0025420	Diffuse alveolar hemorrhage	64859	NABP1	ORPHA:520
HP:0025420	Diffuse alveolar hemorrhage	6777	STAT5B	ORPHA:520
HP:0025420	Diffuse alveolar hemorrhage	4926	NUMA1	ORPHA:520
HP:0025420	Diffuse alveolar hemorrhage	7704	ZBTB16	ORPHA:520
HP:0025420	Diffuse alveolar hemorrhage	79718	TBL1XR1	ORPHA:520
HP:0025420	Diffuse alveolar hemorrhage	58484	NLRC4	OMIM:616050
HP:0025420	Diffuse alveolar hemorrhage	440275	EIF2AK4	ORPHA:199241
HP:0025420	Diffuse alveolar hemorrhage	3162	HMOX1	OMIM:614034
HP:0025420	Diffuse alveolar hemorrhage	1493	CTLA4	ORPHA:900
HP:0025420	Diffuse alveolar hemorrhage	26191	PTPN22	ORPHA:900
HP:0025420	Diffuse alveolar hemorrhage	3115	HLA-DPB1	ORPHA:900
HP:0025420	Diffuse alveolar hemorrhage	5657	PRTN3	ORPHA:900
HP:0025420	Diffuse alveolar hemorrhage	3113	HLA-DPA1	ORPHA:900
HP:0025423	Abnormal larynx morphology	9361	LONP1	OMIM:600373
HP:0025423	Abnormal larynx morphology	6134	RPL10	OMIM:300998
HP:0025423	Abnormal larynx morphology	6134	RPL10	ORPHA:459070
HP:0025423	Abnormal larynx morphology	6134	RPL10	ORPHA:435938
HP:0025423	Abnormal larynx morphology	104	ADARB1	OMIM:618862
HP:0025423	Abnormal larynx morphology	6477	SIAH1	OMIM:619314
HP:0025423	Abnormal larynx morphology	8425	LTBP4	OMIM:613177
HP:0025423	Abnormal larynx morphology	6659	SOX4	OMIM:618506
HP:0025423	Abnormal larynx morphology	2972	BRF1	OMIM:616202
HP:0025423	Abnormal larynx morphology	2972	BRF1	ORPHA:444072
HP:0025423	Abnormal larynx morphology	9759	HDAC4	ORPHA:1001
HP:0025423	Abnormal larynx morphology	775	CACNA1C	OMIM:620029
HP:0025423	Abnormal larynx morphology	5894	RAF1	OMIM:611553
HP:0025423	Abnormal larynx morphology	4897	NRCAM	OMIM:619833
HP:0025423	Abnormal larynx morphology	27125	AFF4	ORPHA:444077
HP:0025423	Abnormal larynx morphology	27125	AFF4	OMIM:616368
HP:0025423	Abnormal larynx morphology	6662	SOX9	ORPHA:140
HP:0025423	Abnormal larynx morphology	6662	SOX9	ORPHA:718
HP:0025423	Abnormal larynx morphology	23498	HAAO	OMIM:617660
HP:0025423	Abnormal larynx morphology	91179	SCARF2	OMIM:600920
HP:0025423	Abnormal larynx morphology	3020	H3-3A	OMIM:619720
HP:0025423	Abnormal larynx morphology	3021	H3-3B	OMIM:619721
HP:0025423	Abnormal larynx morphology	388015	RTL1	ORPHA:254528
HP:0025423	Abnormal larynx morphology	388015	RTL1	ORPHA:96334
HP:0025423	Abnormal larynx morphology	8788	DLK1	ORPHA:254528
HP:0025423	Abnormal larynx morphology	8788	DLK1	ORPHA:96334
HP:0025423	Abnormal larynx morphology	55384	MEG3	ORPHA:254528
HP:0025423	Abnormal larynx morphology	55384	MEG3	ORPHA:96334
HP:0025423	Abnormal larynx morphology	80816	ASXL3	OMIM:615485
HP:0025423	Abnormal larynx morphology	89910	UBE3B	OMIM:244450
HP:0025423	Abnormal larynx morphology	51506	UFC1	OMIM:618076
HP:0025423	Abnormal larynx morphology	27245	AHDC1	ORPHA:412069
HP:0025423	Abnormal larynx morphology	27245	AHDC1	OMIM:615829
HP:0025423	Abnormal larynx morphology	1841	DTYMK	OMIM:619847
HP:0025423	Abnormal larynx morphology	79631	EFL1	OMIM:617941
HP:0025423	Abnormal larynx morphology	55636	CHD7	ORPHA:138
HP:0025423	Abnormal larynx morphology	9723	SEMA3E	ORPHA:138
HP:0025423	Abnormal larynx morphology	4038	LRP4	ORPHA:3258
HP:0025423	Abnormal larynx morphology	324	APC	ORPHA:3258
HP:0025423	Abnormal larynx morphology	6926	TBX3	ORPHA:3138
HP:0025423	Abnormal larynx morphology	3417	IDH1	ORPHA:99646
HP:0025423	Abnormal larynx morphology	4784	NFIX	OMIM:602535
HP:0025423	Abnormal larynx morphology	2263	FGFR2	ORPHA:93260
HP:0025423	Abnormal larynx morphology	2263	FGFR2	ORPHA:93259
HP:0025423	Abnormal larynx morphology	284058	KANSL1	ORPHA:363958
HP:0025423	Abnormal larynx morphology	284058	KANSL1	ORPHA:363965
HP:0025423	Abnormal larynx morphology	284058	KANSL1	OMIM:610443
HP:0025423	Abnormal larynx morphology	54496	PRMT7	OMIM:617157
HP:0025423	Abnormal larynx morphology	54496	PRMT7	ORPHA:464288
HP:0025423	Abnormal larynx morphology	25885	POLR1A	OMIM:616462
HP:0025423	Abnormal larynx morphology	23522	KAT6B	OMIM:606170
HP:0025423	Abnormal larynx morphology	7994	KAT6A	ORPHA:457193
HP:0025423	Abnormal larynx morphology	1312	COMT	ORPHA:567
HP:0025423	Abnormal larynx morphology	221037	JMJD1C	ORPHA:567
HP:0025423	Abnormal larynx morphology	2812	GP1BB	ORPHA:567
HP:0025423	Abnormal larynx morphology	6239	RREB1	ORPHA:567
HP:0025423	Abnormal larynx morphology	6899	TBX1	ORPHA:567
HP:0025423	Abnormal larynx morphology	7290	HIRA	ORPHA:567
HP:0025423	Abnormal larynx morphology	9632	SEC24C	ORPHA:567
HP:0025423	Abnormal larynx morphology	7353	UFD1	ORPHA:567
HP:0025423	Abnormal larynx morphology	421	ARVCF	ORPHA:567
HP:0025423	Abnormal larynx morphology	157680	VPS13B	OMIM:216550
HP:0025423	Abnormal larynx morphology	4000	LMNA	ORPHA:79474
HP:0025423	Abnormal larynx morphology	23594	ORC6	OMIM:613803
HP:0025423	Abnormal larynx morphology	26040	SETBP1	ORPHA:798
HP:0025423	Abnormal larynx morphology	64864	RFX7	OMIM:620330
HP:0025423	Abnormal larynx morphology	5447	POR	OMIM:201750
HP:0025423	Abnormal larynx morphology	8493	PPM1D	OMIM:617450
HP:0025423	Abnormal larynx morphology	2033	EP300	OMIM:180849
HP:0025423	Abnormal larynx morphology	1387	CREBBP	OMIM:180849
HP:0025423	Abnormal larynx morphology	91461	PKDCC	OMIM:618821
HP:0025423	Abnormal larynx morphology	79753	SNIP1	OMIM:614501
HP:0025423	Abnormal larynx morphology	7486	WRN	ORPHA:902
HP:0025423	Abnormal larynx morphology	10236	HNRNPR	OMIM:620073
HP:0025423	Abnormal larynx morphology	1303	COL12A1	ORPHA:536516
HP:0025423	Abnormal larynx morphology	374879	ZNF699	OMIM:619488
HP:0025423	Abnormal larynx morphology	6857	SYT1	ORPHA:522077
HP:0025423	Abnormal larynx morphology	253959	RALGAPA1	OMIM:618797
HP:0025423	Abnormal larynx morphology	51341	ZBTB7A	OMIM:619769
HP:0025423	Abnormal larynx morphology	11128	POLR3A	ORPHA:3455
HP:0025423	Abnormal larynx morphology	23314	SATB2	ORPHA:576283
HP:0025423	Abnormal larynx morphology	5116	PCNT	ORPHA:2637
HP:0025423	Abnormal larynx morphology	4087	SMAD2	OMIM:619657
HP:0025423	Abnormal larynx morphology	2581	GALC	ORPHA:206436
HP:0025423	Abnormal larynx morphology	5660	PSAP	ORPHA:206436
HP:0025423	Abnormal larynx morphology	3778	KCNMA1	OMIM:618729
HP:0025423	Abnormal larynx morphology	26123	TCTN3	ORPHA:2753
HP:0025423	Abnormal larynx morphology	3339	HSPG2	ORPHA:800
HP:0025423	Abnormal larynx morphology	3239	HOXD13	ORPHA:887
HP:0025423	Abnormal larynx morphology	1513	CTSK	ORPHA:763
HP:0025423	Abnormal larynx morphology	529	ATP6V1E1	OMIM:617402
HP:0025423	Abnormal larynx morphology	4212	MEIS2	ORPHA:261190
HP:0025423	Abnormal larynx morphology	219844	HYLS1	ORPHA:2189
HP:0025423	Abnormal larynx morphology	374654	KIF7	ORPHA:2189
HP:0025423	Abnormal larynx morphology	51053	GMNN	OMIM:616835
HP:0025423	Abnormal larynx morphology	3852	KRT5	ORPHA:79396
HP:0025423	Abnormal larynx morphology	3861	KRT14	ORPHA:79396
HP:0025423	Abnormal larynx morphology	3909	LAMA3	ORPHA:79404
HP:0025423	Abnormal larynx morphology	3918	LAMC2	ORPHA:79404
HP:0025423	Abnormal larynx morphology	3914	LAMB3	ORPHA:79404
HP:0025423	Abnormal larynx morphology	1836	SLC26A2	ORPHA:56304
HP:0025423	Abnormal larynx morphology	3835	KIF22	ORPHA:93360
HP:0025423	Abnormal larynx morphology	341640	FREM2	ORPHA:2052
HP:0025423	Abnormal larynx morphology	80144	FRAS1	ORPHA:2052
HP:0025423	Abnormal larynx morphology	80144	FRAS1	OMIM:219000
HP:0025423	Abnormal larynx morphology	23426	GRIP1	ORPHA:2052
HP:0025423	Abnormal larynx morphology	55612	FERMT1	ORPHA:2908
HP:0025423	Abnormal larynx morphology	2317	FLNB	ORPHA:1190
HP:0025423	Abnormal larynx morphology	2317	FLNB	OMIM:108720
HP:0025423	Abnormal larynx morphology	65992	DDRGK1	ORPHA:93352
HP:0025423	Abnormal larynx morphology	389827	MYMK	ORPHA:1358
HP:0025423	Abnormal larynx morphology	101929726	MYMX	ORPHA:1358
HP:0025423	Abnormal larynx morphology	10262	SF3B4	OMIM:154400
HP:0025423	Abnormal larynx morphology	1062	CENPE	OMIM:616051
HP:0025423	Abnormal larynx morphology	6885	MAP3K7	OMIM:617137
HP:0025423	Abnormal larynx morphology	6885	MAP3K7	ORPHA:1826
HP:0025423	Abnormal larynx morphology	6091	ROBO1	OMIM:620305
HP:0025423	Abnormal larynx morphology	2316	FLNA	ORPHA:1826
HP:0025423	Abnormal larynx morphology	1493	CTLA4	ORPHA:900
HP:0025423	Abnormal larynx morphology	26191	PTPN22	ORPHA:900
HP:0025423	Abnormal larynx morphology	3115	HLA-DPB1	ORPHA:900
HP:0025423	Abnormal larynx morphology	5657	PRTN3	ORPHA:900
HP:0025423	Abnormal larynx morphology	3113	HLA-DPA1	ORPHA:900
HP:0025423	Abnormal larynx morphology	4796	TONSL	ORPHA:93357
HP:0025423	Abnormal larynx morphology	4796	TONSL	OMIM:271510
HP:0025423	Abnormal larynx morphology	51199	NIN	ORPHA:319675
HP:0025423	Abnormal larynx morphology	4054	LTBP3	OMIM:617809
HP:0025423	Abnormal larynx morphology	2137	EXTL3	ORPHA:508533
HP:0025423	Abnormal larynx morphology	2137	EXTL3	OMIM:617425
HP:0025423	Abnormal larynx morphology	4089	SMAD4	OMIM:139210
HP:0025423	Abnormal larynx morphology	9719	ADAMTSL2	OMIM:231050
HP:0025423	Abnormal larynx morphology	2261	FGFR3	ORPHA:2363
HP:0025423	Abnormal larynx morphology	2255	FGF10	ORPHA:2363
HP:0025423	Abnormal larynx morphology	4750	NEK1	ORPHA:2751
HP:0025423	Abnormal larynx morphology	4750	NEK1	OMIM:263520
HP:0025423	Abnormal larynx morphology	710	SERPING1	ORPHA:100050
HP:0025423	Abnormal larynx morphology	139285	AMER1	OMIM:300373
HP:0025423	Abnormal larynx morphology	4519	MT-CYB	ORPHA:137675
HP:0025423	Abnormal larynx morphology	9775	EIF4A3	OMIM:268305
HP:0025423	Abnormal larynx morphology	3930	LBR	OMIM:215140
HP:0025423	Abnormal larynx morphology	4256	MGP	OMIM:245150
HP:0025423	Abnormal larynx morphology	3845	KRAS	ORPHA:3339
HP:0025423	Abnormal larynx morphology	22858	CILK1	OMIM:612651
HP:0025423	Abnormal larynx morphology	27152	INTU	OMIM:617925
HP:0025423	Abnormal larynx morphology	5396	PRRX1	OMIM:202650
HP:0025423	Abnormal larynx morphology	7547	ZIC3	OMIM:314390
HP:0025423	Abnormal larynx morphology	2187	FANCB	OMIM:314390
HP:0025423	Abnormal larynx morphology	4281	MID1	ORPHA:2745
HP:0025423	Abnormal larynx morphology	4281	MID1	OMIM:300000
HP:0025423	Abnormal larynx morphology	2737	GLI3	ORPHA:672
HP:0025423	Abnormal larynx morphology	2737	GLI3	OMIM:146510
HP:0025423	Abnormal larynx morphology	6650	CAPN15	OMIM:619318
HP:0025423	Abnormal larynx morphology	1906	EDN1	OMIM:615706
HP:0025423	Abnormal larynx morphology	55294	FBXW7	OMIM:620012
HP:0025423	Abnormal larynx morphology	55023	PHIP	OMIM:617991
HP:0025423	Abnormal larynx morphology	6711	SPTBN1	OMIM:619475
HP:0025423	Abnormal larynx morphology	26005	C2CD3	OMIM:615948
HP:0025423	Abnormal larynx morphology	26005	C2CD3	ORPHA:434179
HP:0025423	Abnormal larynx morphology	51626	DYNC2LI1	OMIM:617088
HP:0025423	Abnormal larynx morphology	415	ARSL	ORPHA:79345
HP:0025423	Abnormal larynx morphology	5745	PTH1R	OMIM:215045
HP:0025423	Abnormal larynx morphology	9782	MATR3	OMIM:606070
HP:0025423	Abnormal larynx morphology	9782	MATR3	ORPHA:600
HP:0025423	Abnormal larynx morphology	29967	LRP12	OMIM:164310
HP:0025423	Abnormal larynx morphology	29967	LRP12	ORPHA:98897
HP:0025423	Abnormal larynx morphology	353116	RILPL1	ORPHA:98897
HP:0025423	Abnormal larynx morphology	10755	GIPC1	ORPHA:98897
HP:0025423	Abnormal larynx morphology	100996717	NOTCH2NLC	ORPHA:98897
HP:0025423	Abnormal larynx morphology	55112	DYNC2I1	ORPHA:93271
HP:0025423	Abnormal larynx morphology	57560	IFT80	ORPHA:93271
HP:0025423	Abnormal larynx morphology	57539	WDR35	ORPHA:93271
HP:0025423	Abnormal larynx morphology	79659	DYNC2H1	ORPHA:93271
HP:0025423	Abnormal larynx morphology	89891	DYNC2I2	ORPHA:93271
HP:0025423	Abnormal larynx morphology	2304	FOXE1	OMIM:241850
HP:0025423	Abnormal larynx morphology	7512	XPNPEP2	ORPHA:100057
HP:0025423	Abnormal larynx morphology	5340	PLG	OMIM:619360
HP:0025423	Abnormal larynx morphology	64711	HS3ST6	OMIM:619367
HP:0025423	Abnormal larynx morphology	2050	EPHB4	ORPHA:90186
HP:0025423	Abnormal larynx morphology	427	ASAH1	ORPHA:333
HP:0025423	Abnormal larynx morphology	2314	FLII	ORPHA:819
HP:0025423	Abnormal larynx morphology	23096	IQSEC2	ORPHA:819
HP:0025423	Abnormal larynx morphology	10743	RAI1	ORPHA:819
HP:0025423	Abnormal larynx morphology	10522	DEAF1	ORPHA:819
HP:0025423	Abnormal larynx morphology	22827	PUF60	ORPHA:508488
HP:0025424	Abnormal larynx physiology	5621	PRNP	ORPHA:466
HP:0025424	Abnormal larynx physiology	2972	BRF1	OMIM:616202
HP:0025424	Abnormal larynx physiology	2972	BRF1	ORPHA:444072
HP:0025424	Abnormal larynx physiology	427	ASAH1	ORPHA:333
HP:0025424	Abnormal larynx physiology	5354	PLP1	ORPHA:280210
HP:0025424	Abnormal larynx physiology	686	BTD	ORPHA:79241
HP:0025424	Abnormal larynx physiology	89910	UBE3B	OMIM:244450
HP:0025424	Abnormal larynx physiology	6872	TAF1	ORPHA:53351
HP:0025424	Abnormal larynx physiology	846	CASR	OMIM:601198
HP:0025424	Abnormal larynx physiology	6329	SCN4A	OMIM:608390
HP:0025424	Abnormal larynx physiology	6329	SCN4A	ORPHA:99734
HP:0025424	Abnormal larynx physiology	7259	TSPYL1	OMIM:608800
HP:0025424	Abnormal larynx physiology	2629	GBA1	ORPHA:77260
HP:0025424	Abnormal larynx physiology	25978	CHMP2B	ORPHA:803
HP:0025424	Abnormal larynx physiology	3178	HNRNPA1	ORPHA:803
HP:0025424	Abnormal larynx physiology	8148	TAF15	ORPHA:803
HP:0025424	Abnormal larynx physiology	5445	PON2	ORPHA:803
HP:0025424	Abnormal larynx physiology	9217	VAPB	ORPHA:803
HP:0025424	Abnormal larynx physiology	8878	SQSTM1	ORPHA:803
HP:0025424	Abnormal larynx physiology	5630	PRPH	ORPHA:803
HP:0025424	Abnormal larynx physiology	29110	TBK1	ORPHA:803
HP:0025424	Abnormal larynx physiology	55830	GLT8D1	ORPHA:803
HP:0025424	Abnormal larynx physiology	755	CFAP410	ORPHA:803
HP:0025424	Abnormal larynx physiology	10891	PPARGC1A	ORPHA:803
HP:0025424	Abnormal larynx physiology	6647	SOD1	ORPHA:803
HP:0025424	Abnormal larynx physiology	10133	OPTN	ORPHA:803
HP:0025424	Abnormal larynx physiology	1639	DCTN1	ORPHA:803
HP:0025424	Abnormal larynx physiology	9896	FIG4	ORPHA:803
HP:0025424	Abnormal larynx physiology	5444	PON1	ORPHA:803
HP:0025424	Abnormal larynx physiology	5446	PON3	ORPHA:803
HP:0025424	Abnormal larynx physiology	4744	NEFH	ORPHA:803
HP:0025424	Abnormal larynx physiology	5216	PFN1	ORPHA:803
HP:0025424	Abnormal larynx physiology	9782	MATR3	ORPHA:803
HP:0025424	Abnormal larynx physiology	54209	TREM2	ORPHA:803
HP:0025424	Abnormal larynx physiology	7415	VCP	ORPHA:803
HP:0025424	Abnormal larynx physiology	283	ANG	ORPHA:803
HP:0025424	Abnormal larynx physiology	23435	TARDBP	ORPHA:803
HP:0025424	Abnormal larynx physiology	29978	UBQLN2	ORPHA:803
HP:0025424	Abnormal larynx physiology	2733	GLE1	ORPHA:803
HP:0025424	Abnormal larynx physiology	2521	FUS	ORPHA:803
HP:0025424	Abnormal larynx physiology	4750	NEK1	ORPHA:803
HP:0025424	Abnormal larynx physiology	6311	ATXN2	ORPHA:803
HP:0025424	Abnormal larynx physiology	1610	DAO	ORPHA:803
HP:0025424	Abnormal larynx physiology	2066	ERBB4	ORPHA:803
HP:0025424	Abnormal larynx physiology	311	ANXA11	ORPHA:803
HP:0025424	Abnormal larynx physiology	23025	UNC13A	ORPHA:803
HP:0025424	Abnormal larynx physiology	899	CCNF	ORPHA:803
HP:0025424	Abnormal larynx physiology	400916	CHCHD10	ORPHA:803
HP:0025424	Abnormal larynx physiology	27286	SRPX2	ORPHA:1945
HP:0025424	Abnormal larynx physiology	2903	GRIN2A	ORPHA:1945
HP:0025424	Abnormal larynx physiology	2566	GABRG2	ORPHA:1945
HP:0025425	Laryngospasm	846	CASR	OMIM:601198
HP:0025425	Laryngospasm	6329	SCN4A	OMIM:608390
HP:0025425	Laryngospasm	6329	SCN4A	ORPHA:99734
HP:0025425	Laryngospasm	7259	TSPYL1	OMIM:608800
HP:0025425	Laryngospasm	2629	GBA1	ORPHA:77260
HP:0025425	Laryngospasm	25978	CHMP2B	ORPHA:803
HP:0025425	Laryngospasm	3178	HNRNPA1	ORPHA:803
HP:0025425	Laryngospasm	8148	TAF15	ORPHA:803
HP:0025425	Laryngospasm	5445	PON2	ORPHA:803
HP:0025425	Laryngospasm	9217	VAPB	ORPHA:803
HP:0025425	Laryngospasm	8878	SQSTM1	ORPHA:803
HP:0025425	Laryngospasm	5630	PRPH	ORPHA:803
HP:0025425	Laryngospasm	29110	TBK1	ORPHA:803
HP:0025425	Laryngospasm	55830	GLT8D1	ORPHA:803
HP:0025425	Laryngospasm	755	CFAP410	ORPHA:803
HP:0025425	Laryngospasm	10891	PPARGC1A	ORPHA:803
HP:0025425	Laryngospasm	6647	SOD1	ORPHA:803
HP:0025425	Laryngospasm	10133	OPTN	ORPHA:803
HP:0025425	Laryngospasm	1639	DCTN1	ORPHA:803
HP:0025425	Laryngospasm	9896	FIG4	ORPHA:803
HP:0025425	Laryngospasm	5444	PON1	ORPHA:803
HP:0025425	Laryngospasm	5446	PON3	ORPHA:803
HP:0025425	Laryngospasm	4744	NEFH	ORPHA:803
HP:0025425	Laryngospasm	5216	PFN1	ORPHA:803
HP:0025425	Laryngospasm	9782	MATR3	ORPHA:803
HP:0025425	Laryngospasm	54209	TREM2	ORPHA:803
HP:0025425	Laryngospasm	7415	VCP	ORPHA:803
HP:0025425	Laryngospasm	283	ANG	ORPHA:803
HP:0025425	Laryngospasm	23435	TARDBP	ORPHA:803
HP:0025425	Laryngospasm	29978	UBQLN2	ORPHA:803
HP:0025425	Laryngospasm	2733	GLE1	ORPHA:803
HP:0025425	Laryngospasm	2521	FUS	ORPHA:803
HP:0025425	Laryngospasm	4750	NEK1	ORPHA:803
HP:0025425	Laryngospasm	6311	ATXN2	ORPHA:803
HP:0025425	Laryngospasm	1610	DAO	ORPHA:803
HP:0025425	Laryngospasm	2066	ERBB4	ORPHA:803
HP:0025425	Laryngospasm	311	ANXA11	ORPHA:803
HP:0025425	Laryngospasm	23025	UNC13A	ORPHA:803
HP:0025425	Laryngospasm	899	CCNF	ORPHA:803
HP:0025425	Laryngospasm	400916	CHCHD10	ORPHA:803
HP:0025425	Laryngospasm	27286	SRPX2	ORPHA:1945
HP:0025425	Laryngospasm	2903	GRIN2A	ORPHA:1945
HP:0025425	Laryngospasm	2566	GABRG2	ORPHA:1945
HP:0025426	Abnormal bronchus morphology	374407	DNAJB13	OMIM:617091
HP:0025426	Abnormal bronchus morphology	374407	DNAJB13	ORPHA:244
HP:0025426	Abnormal bronchus morphology	139212	DNAAF6	OMIM:300991
HP:0025426	Abnormal bronchus morphology	139212	DNAAF6	ORPHA:244
HP:0025426	Abnormal bronchus morphology	85016	CFAP300	OMIM:618063
HP:0025426	Abnormal bronchus morphology	85016	CFAP300	ORPHA:244
HP:0025426	Abnormal bronchus morphology	83538	ODAD4	OMIM:617092
HP:0025426	Abnormal bronchus morphology	83538	ODAD4	ORPHA:244
HP:0025426	Abnormal bronchus morphology	4791	NFKB2	ORPHA:293978
HP:0025426	Abnormal bronchus morphology	4791	NFKB2	ORPHA:1572
HP:0025426	Abnormal bronchus morphology	695	BTK	OMIM:300755
HP:0025426	Abnormal bronchus morphology	3071	NCKAP1L	OMIM:618982
HP:0025426	Abnormal bronchus morphology	1493	CTLA4	ORPHA:436159
HP:0025426	Abnormal bronchus morphology	1493	CTLA4	OMIM:616100
HP:0025426	Abnormal bronchus morphology	5993	RFX5	OMIM:620816
HP:0025426	Abnormal bronchus morphology	4683	NBN	OMIM:251260
HP:0025426	Abnormal bronchus morphology	10309	CCNO	OMIM:615872
HP:0025426	Abnormal bronchus morphology	10309	CCNO	ORPHA:244
HP:0025426	Abnormal bronchus morphology	2622	GAS8	OMIM:616726
HP:0025426	Abnormal bronchus morphology	2622	GAS8	ORPHA:244
HP:0025426	Abnormal bronchus morphology	5238	PGM3	ORPHA:443811
HP:0025426	Abnormal bronchus morphology	5238	PGM3	OMIM:615816
HP:0025426	Abnormal bronchus morphology	1080	CFTR	OMIM:211400
HP:0025426	Abnormal bronchus morphology	1080	CFTR	OMIM:219700
HP:0025426	Abnormal bronchus morphology	1080	CFTR	ORPHA:60033
HP:0025426	Abnormal bronchus morphology	1080	CFTR	ORPHA:586
HP:0025426	Abnormal bronchus morphology	6338	SCNN1B	OMIM:211400
HP:0025426	Abnormal bronchus morphology	6338	SCNN1B	ORPHA:60033
HP:0025426	Abnormal bronchus morphology	27148	STK36	OMIM:619436
HP:0025426	Abnormal bronchus morphology	27148	STK36	ORPHA:244
HP:0025426	Abnormal bronchus morphology	5880	RAC2	OMIM:618986
HP:0025426	Abnormal bronchus morphology	5293	PIK3CD	OMIM:615513
HP:0025426	Abnormal bronchus morphology	5293	PIK3CD	ORPHA:397596
HP:0025426	Abnormal bronchus morphology	987	LRBA	OMIM:614700
HP:0025426	Abnormal bronchus morphology	8737	RIPK1	OMIM:618108
HP:0025426	Abnormal bronchus morphology	6890	TAP1	OMIM:604571
HP:0025426	Abnormal bronchus morphology	345895	RSPH4A	OMIM:612649
HP:0025426	Abnormal bronchus morphology	345895	RSPH4A	ORPHA:244
HP:0025426	Abnormal bronchus morphology	9094	UNC119	OMIM:615518
HP:0025426	Abnormal bronchus morphology	1729	DIAPH1	ORPHA:477814
HP:0025426	Abnormal bronchus morphology	1729	DIAPH1	OMIM:616632
HP:0025426	Abnormal bronchus morphology	54768	HYDIN	OMIM:608647
HP:0025426	Abnormal bronchus morphology	54768	HYDIN	ORPHA:244
HP:0025426	Abnormal bronchus morphology	89765	RSPH1	OMIM:615481
HP:0025426	Abnormal bronchus morphology	89765	RSPH1	ORPHA:244
HP:0025426	Abnormal bronchus morphology	161582	DNAAF4	OMIM:615482
HP:0025426	Abnormal bronchus morphology	161582	DNAAF4	ORPHA:244
HP:0025426	Abnormal bronchus morphology	6809	STX3	OMIM:619445
HP:0025426	Abnormal bronchus morphology	6809	STX3	OMIM:619446
HP:0025426	Abnormal bronchus morphology	9948	WDR1	OMIM:150550
HP:0025426	Abnormal bronchus morphology	221421	RSPH9	OMIM:612650
HP:0025426	Abnormal bronchus morphology	221421	RSPH9	ORPHA:244
HP:0025426	Abnormal bronchus morphology	5424	POLD1	OMIM:620836
HP:0025426	Abnormal bronchus morphology	54014	BRWD1	OMIM:620438
HP:0025426	Abnormal bronchus morphology	4790	NFKB1	OMIM:616576
HP:0025426	Abnormal bronchus morphology	4790	NFKB1	ORPHA:1572
HP:0025426	Abnormal bronchus morphology	472	ATM	OMIM:208900
HP:0025426	Abnormal bronchus morphology	388389	DNAAF19	OMIM:614679
HP:0025426	Abnormal bronchus morphology	1767	DNAH5	OMIM:608644
HP:0025426	Abnormal bronchus morphology	1767	DNAH5	ORPHA:244
HP:0025426	Abnormal bronchus morphology	8382	NME5	OMIM:620032
HP:0025426	Abnormal bronchus morphology	8382	NME5	ORPHA:244
HP:0025426	Abnormal bronchus morphology	6440	SFTPC	OMIM:610913
HP:0025426	Abnormal bronchus morphology	6440	SFTPC	ORPHA:2032
HP:0025426	Abnormal bronchus morphology	3604	TNFRSF9	OMIM:620282
HP:0025426	Abnormal bronchus morphology	2212	FCGR2A	OMIM:219700
HP:0025426	Abnormal bronchus morphology	7040	TGFB1	OMIM:219700
HP:0025426	Abnormal bronchus morphology	7040	TGFB1	ORPHA:586
HP:0025426	Abnormal bronchus morphology	6340	SCNN1G	OMIM:613071
HP:0025426	Abnormal bronchus morphology	6340	SCNN1G	ORPHA:60033
HP:0025426	Abnormal bronchus morphology	6772	STAT1	OMIM:614162
HP:0025426	Abnormal bronchus morphology	6772	STAT1	ORPHA:391487
HP:0025426	Abnormal bronchus morphology	115650	TNFRSF13C	OMIM:240500
HP:0025426	Abnormal bronchus morphology	115650	TNFRSF13C	ORPHA:1572
HP:0025426	Abnormal bronchus morphology	29851	ICOS	OMIM:240500
HP:0025426	Abnormal bronchus morphology	29851	ICOS	ORPHA:1572
HP:0025426	Abnormal bronchus morphology	29851	ICOS	OMIM:607594
HP:0025426	Abnormal bronchus morphology	930	CD19	OMIM:240500
HP:0025426	Abnormal bronchus morphology	930	CD19	ORPHA:1572
HP:0025426	Abnormal bronchus morphology	23495	TNFRSF13B	OMIM:240500
HP:0025426	Abnormal bronchus morphology	23495	TNFRSF13B	ORPHA:1572
HP:0025426	Abnormal bronchus morphology	1380	CR2	OMIM:240500
HP:0025426	Abnormal bronchus morphology	1380	CR2	ORPHA:1572
HP:0025426	Abnormal bronchus morphology	84061	MAGT1	OMIM:300853
HP:0025426	Abnormal bronchus morphology	123872	DNAAF1	OMIM:613193
HP:0025426	Abnormal bronchus morphology	123872	DNAAF1	ORPHA:244
HP:0025426	Abnormal bronchus morphology	54453	RIN2	OMIM:613075
HP:0025426	Abnormal bronchus morphology	3394	IRF8	OMIM:226990
HP:0025426	Abnormal bronchus morphology	6774	STAT3	ORPHA:2314
HP:0025426	Abnormal bronchus morphology	10379	IRF9	OMIM:618648
HP:0025426	Abnormal bronchus morphology	7852	CXCR4	OMIM:193670
HP:0025426	Abnormal bronchus morphology	7852	CXCR4	ORPHA:51636
HP:0025426	Abnormal bronchus morphology	56244	BTNL2	OMIM:612387
HP:0025426	Abnormal bronchus morphology	56244	BTNL2	ORPHA:797
HP:0025426	Abnormal bronchus morphology	3572	IL6ST	OMIM:618523
HP:0025426	Abnormal bronchus morphology	3572	IL6ST	OMIM:619752
HP:0025426	Abnormal bronchus morphology	5426	POLE	OMIM:615139
HP:0025426	Abnormal bronchus morphology	54970	TTC12	OMIM:618801
HP:0025426	Abnormal bronchus morphology	54970	TTC12	ORPHA:244
HP:0025426	Abnormal bronchus morphology	729238	SFTPA2	ORPHA:2032
HP:0025426	Abnormal bronchus morphology	79991	STN1	ORPHA:2032
HP:0025426	Abnormal bronchus morphology	653509	SFTPA1	ORPHA:2032
HP:0025426	Abnormal bronchus morphology	21	ABCA3	ORPHA:2032
HP:0025426	Abnormal bronchus morphology	1832	DSP	ORPHA:2032
HP:0025426	Abnormal bronchus morphology	727897	MUC5B	ORPHA:2032
HP:0025426	Abnormal bronchus morphology	10144	FAM13A	ORPHA:2032
HP:0025426	Abnormal bronchus morphology	23250	ATP11A	ORPHA:2032
HP:0025426	Abnormal bronchus morphology	91039	DPP9	ORPHA:2032
HP:0025426	Abnormal bronchus morphology	51750	RTEL1	ORPHA:2032
HP:0025426	Abnormal bronchus morphology	7012	TERC	ORPHA:2032
HP:0025426	Abnormal bronchus morphology	5073	PARN	ORPHA:2032
HP:0025426	Abnormal bronchus morphology	7015	TERT	ORPHA:2032
HP:0025426	Abnormal bronchus morphology	713	C1QB	OMIM:620321
HP:0025426	Abnormal bronchus morphology	219972	MPEG1	OMIM:619223
HP:0025426	Abnormal bronchus morphology	567	B2M	OMIM:241600
HP:0025426	Abnormal bronchus morphology	7161	TP73	OMIM:619466
HP:0025426	Abnormal bronchus morphology	254428	SLC41A1	OMIM:619468
HP:0025426	Abnormal bronchus morphology	7174	TPP2	OMIM:619220
HP:0025426	Abnormal bronchus morphology	146206	CARMIL2	OMIM:618131
HP:0025426	Abnormal bronchus morphology	4700	NDUFA6	OMIM:618253
HP:0025426	Abnormal bronchus morphology	115399	LRRC56	OMIM:618254
HP:0025426	Abnormal bronchus morphology	115399	LRRC56	ORPHA:244
HP:0025426	Abnormal bronchus morphology	10125	RASGRP1	OMIM:618534
HP:0025426	Abnormal bronchus morphology	8742	TNFSF12	ORPHA:1572
HP:0025426	Abnormal bronchus morphology	931	MS4A1	ORPHA:1572
HP:0025426	Abnormal bronchus morphology	975	CD81	ORPHA:1572
HP:0025426	Abnormal bronchus morphology	359948	IRF2BP2	ORPHA:1572
HP:0025426	Abnormal bronchus morphology	3123	HLA-DRB1	ORPHA:797
HP:0025426	Abnormal bronchus morphology	3123	HLA-DRB1	OMIM:181000
HP:0025426	Abnormal bronchus morphology	55036	CCDC40	OMIM:613808
HP:0025426	Abnormal bronchus morphology	55036	CCDC40	ORPHA:244
HP:0025426	Abnormal bronchus morphology	339829	CCDC39	OMIM:613807
HP:0025426	Abnormal bronchus morphology	339829	CCDC39	ORPHA:244
HP:0025426	Abnormal bronchus morphology	27019	DNAI1	OMIM:244400
HP:0025426	Abnormal bronchus morphology	27019	DNAI1	ORPHA:244
HP:0025426	Abnormal bronchus morphology	1789	DNMT3B	OMIM:242860
HP:0025426	Abnormal bronchus morphology	83861	RSPH3	OMIM:616481
HP:0025426	Abnormal bronchus morphology	83861	RSPH3	ORPHA:244
HP:0025426	Abnormal bronchus morphology	29775	CARD10	OMIM:619632
HP:0025426	Abnormal bronchus morphology	5265	SERPINA1	OMIM:613490
HP:0025426	Abnormal bronchus morphology	5265	SERPINA1	ORPHA:60
HP:0025426	Abnormal bronchus morphology	5265	SERPINA1	ORPHA:586
HP:0025426	Abnormal bronchus morphology	152110	NEK10	OMIM:618781
HP:0025426	Abnormal bronchus morphology	152110	NEK10	ORPHA:244
HP:0025426	Abnormal bronchus morphology	6337	SCNN1A	ORPHA:60033
HP:0025426	Abnormal bronchus morphology	6337	SCNN1A	OMIM:613021
HP:0025426	Abnormal bronchus morphology	23568	ARL2BP	OMIM:615434
HP:0025426	Abnormal bronchus morphology	5295	PIK3R1	OMIM:616005
HP:0025426	Abnormal bronchus morphology	5295	PIK3R1	ORPHA:397596
HP:0025426	Abnormal bronchus morphology	5295	PIK3R1	ORPHA:33110
HP:0025426	Abnormal bronchus morphology	25981	DNAH1	OMIM:617577
HP:0025426	Abnormal bronchus morphology	25981	DNAH1	ORPHA:244
HP:0025426	Abnormal bronchus morphology	64446	DNAI2	OMIM:612444
HP:0025426	Abnormal bronchus morphology	64446	DNAI2	ORPHA:244
HP:0025426	Abnormal bronchus morphology	54440	SASH3	OMIM:301082
HP:0025426	Abnormal bronchus morphology	6789	STK4	OMIM:614868
HP:0025426	Abnormal bronchus morphology	2006	ELN	OMIM:123700
HP:0025426	Abnormal bronchus morphology	2006	ELN	ORPHA:90348
HP:0025426	Abnormal bronchus morphology	55719	SLF2	OMIM:620184
HP:0025426	Abnormal bronchus morphology	3507	IGHM	OMIM:601495
HP:0025426	Abnormal bronchus morphology	3507	IGHM	ORPHA:33110
HP:0025426	Abnormal bronchus morphology	6804	STX1A	ORPHA:586
HP:0025426	Abnormal bronchus morphology	2947	GSTM3	ORPHA:586
HP:0025426	Abnormal bronchus morphology	2729	GCLC	ORPHA:586
HP:0025426	Abnormal bronchus morphology	1084	CEACAM3	ORPHA:586
HP:0025426	Abnormal bronchus morphology	6556	SLC11A1	ORPHA:586
HP:0025426	Abnormal bronchus morphology	51164	DCTN4	ORPHA:586
HP:0025426	Abnormal bronchus morphology	3783	KCNN4	ORPHA:586
HP:0025426	Abnormal bronchus morphology	4282	MIF	ORPHA:586
HP:0025426	Abnormal bronchus morphology	1909	EDNRA	ORPHA:586
HP:0025426	Abnormal bronchus morphology	6550	SLC9A3	ORPHA:586
HP:0025426	Abnormal bronchus morphology	3162	HMOX1	ORPHA:586
HP:0025426	Abnormal bronchus morphology	115019	SLC26A9	ORPHA:586
HP:0025426	Abnormal bronchus morphology	3077	HFE	ORPHA:586
HP:0025426	Abnormal bronchus morphology	11254	SLC6A14	ORPHA:586
HP:0025426	Abnormal bronchus morphology	22802	CLCA4	ORPHA:586
HP:0025426	Abnormal bronchus morphology	4680	CEACAM6	ORPHA:586
HP:0025426	Abnormal bronchus morphology	54790	TET2	OMIM:619126
HP:0025426	Abnormal bronchus morphology	5728	PTEN	ORPHA:397596
HP:0025426	Abnormal bronchus morphology	60468	BACH2	OMIM:618394
HP:0025426	Abnormal bronchus morphology	641	BLM	OMIM:210900
HP:0025426	Abnormal bronchus morphology	51364	ZMYND10	OMIM:615444
HP:0025426	Abnormal bronchus morphology	51364	ZMYND10	ORPHA:244
HP:0025426	Abnormal bronchus morphology	50615	IL21R	OMIM:615207
HP:0025426	Abnormal bronchus morphology	8701	DNAH11	OMIM:611884
HP:0025426	Abnormal bronchus morphology	8701	DNAH11	ORPHA:244
HP:0025426	Abnormal bronchus morphology	10551	AGR2	OMIM:620233
HP:0025426	Abnormal bronchus morphology	85452	CFAP74	OMIM:620197
HP:0025426	Abnormal bronchus morphology	85452	CFAP74	ORPHA:244
HP:0025426	Abnormal bronchus morphology	925	CD8A	OMIM:608957
HP:0025426	Abnormal bronchus morphology	84905	ZNF341	OMIM:618282
HP:0025426	Abnormal bronchus morphology	11117	EMILIN1	OMIM:620080
HP:0025426	Abnormal bronchus morphology	5422	POLA1	OMIM:301220
HP:0025426	Abnormal bronchus morphology	92749	DRC1	OMIM:615294
HP:0025426	Abnormal bronchus morphology	92749	DRC1	ORPHA:244
HP:0025426	Abnormal bronchus morphology	55130	ODAD2	OMIM:615451
HP:0025426	Abnormal bronchus morphology	55130	ODAD2	ORPHA:244
HP:0025426	Abnormal bronchus morphology	27040	LAT	OMIM:617514
HP:0025426	Abnormal bronchus morphology	10516	FBLN5	ORPHA:90348
HP:0025426	Abnormal bronchus morphology	5832	ALDH18A1	ORPHA:90348
HP:0025426	Abnormal bronchus morphology	84433	CARD11	OMIM:617638
HP:0025426	Abnormal bronchus morphology	246176	GAS2L2	OMIM:618449
HP:0025426	Abnormal bronchus morphology	246176	GAS2L2	ORPHA:244
HP:0025426	Abnormal bronchus morphology	3514	IGKC	ORPHA:183675
HP:0025426	Abnormal bronchus morphology	3501	IGHG2	ORPHA:183675
HP:0025426	Abnormal bronchus morphology	115948	ODAD3	ORPHA:244
HP:0025426	Abnormal bronchus morphology	115948	ODAD3	OMIM:616037
HP:0025426	Abnormal bronchus morphology	352909	DNAAF3	ORPHA:244
HP:0025426	Abnormal bronchus morphology	352909	DNAAF3	OMIM:606763
HP:0025426	Abnormal bronchus morphology	51314	NME8	ORPHA:244
HP:0025426	Abnormal bronchus morphology	8481	OFD1	ORPHA:244
HP:0025426	Abnormal bronchus morphology	2302	FOXJ1	ORPHA:244
HP:0025426	Abnormal bronchus morphology	2302	FOXJ1	OMIM:618699
HP:0025426	Abnormal bronchus morphology	85478	CCDC65	ORPHA:244
HP:0025426	Abnormal bronchus morphology	85478	CCDC65	OMIM:615504
HP:0025426	Abnormal bronchus morphology	6674	SPAG1	ORPHA:244
HP:0025426	Abnormal bronchus morphology	6674	SPAG1	OMIM:615505
HP:0025426	Abnormal bronchus morphology	83544	DNAL1	ORPHA:244
HP:0025426	Abnormal bronchus morphology	83544	DNAL1	OMIM:614017
HP:0025426	Abnormal bronchus morphology	200373	CFAP221	ORPHA:244
HP:0025426	Abnormal bronchus morphology	55172	DNAAF2	ORPHA:244
HP:0025426	Abnormal bronchus morphology	23639	DNAAF11	ORPHA:244
HP:0025426	Abnormal bronchus morphology	23639	DNAAF11	OMIM:614935
HP:0025426	Abnormal bronchus morphology	54919	DNAAF5	ORPHA:244
HP:0025426	Abnormal bronchus morphology	6103	RPGR	ORPHA:244
HP:0025426	Abnormal bronchus morphology	93233	ODAD1	ORPHA:244
HP:0025426	Abnormal bronchus morphology	93233	ODAD1	OMIM:615067
HP:0025426	Abnormal bronchus morphology	345643	MCIDAS	ORPHA:244
HP:0025426	Abnormal bronchus morphology	345643	MCIDAS	OMIM:618695
HP:0025426	Abnormal bronchus morphology	56683	CFAP298	ORPHA:244
HP:0025426	Abnormal bronchus morphology	56683	CFAP298	OMIM:615500
HP:0025426	Abnormal bronchus morphology	79925	SPEF2	ORPHA:244
HP:0025426	Abnormal bronchus morphology	1770	DNAH9	ORPHA:244
HP:0025426	Abnormal bronchus morphology	6850	SYK	OMIM:619381
HP:0025426	Abnormal bronchus morphology	81704	DOCK8	OMIM:243700
HP:0025426	Abnormal bronchus morphology	10568	SLC34A2	ORPHA:60025
HP:0025426	Abnormal bronchus morphology	10892	MALT1	OMIM:615468
HP:0025426	Abnormal bronchus morphology	96459	FNIP1	OMIM:619705
HP:0025426	Abnormal bronchus morphology	6891	TAP2	OMIM:620813
HP:0025426	Abnormal bronchus morphology	55315	SLC29A3	ORPHA:168569
HP:0025426	Abnormal bronchus morphology	9138	ARHGEF1	OMIM:618459
HP:0025426	Abnormal bronchus morphology	5297	PI4KA	OMIM:619708
HP:0025426	Abnormal bronchus morphology	6929	TCF3	ORPHA:33110
HP:0025426	Abnormal bronchus morphology	7922	SLC39A7	ORPHA:33110
HP:0025426	Abnormal bronchus morphology	973	CD79A	ORPHA:33110
HP:0025426	Abnormal bronchus morphology	974	CD79B	ORPHA:33110
HP:0025426	Abnormal bronchus morphology	6688	SPI1	ORPHA:33110
HP:0025426	Abnormal bronchus morphology	3543	IGLL1	ORPHA:33110
HP:0025426	Abnormal bronchus morphology	29760	BLNK	ORPHA:33110
HP:0025426	Abnormal bronchus morphology	56262	LRRC8A	ORPHA:33110
HP:0025426	Abnormal bronchus morphology	745	MYRF	OMIM:618280
HP:0025426	Abnormal bronchus morphology	2077	ERF	OMIM:617180
HP:0025426	Abnormal bronchus morphology	2317	FLNB	OMIM:150250
HP:0025426	Abnormal bronchus morphology	5447	POR	OMIM:201750
HP:0025426	Abnormal bronchus morphology	374879	ZNF699	OMIM:619488
HP:0025426	Abnormal bronchus morphology	4629	MYH11	OMIM:619351
HP:0025426	Abnormal bronchus morphology	8425	LTBP4	OMIM:613177
HP:0025426	Abnormal bronchus morphology	2263	FGFR2	OMIM:101600
HP:0025426	Abnormal bronchus morphology	2260	FGFR1	OMIM:101600
HP:0025426	Abnormal bronchus morphology	7994	KAT6A	OMIM:616268
HP:0025426	Abnormal bronchus morphology	6662	SOX9	ORPHA:718
HP:0025426	Abnormal bronchus morphology	5000	ORC4	OMIM:613800
HP:0025426	Abnormal bronchus morphology	3852	KRT5	ORPHA:79396
HP:0025426	Abnormal bronchus morphology	3861	KRT14	ORPHA:79396
HP:0025426	Abnormal bronchus morphology	3265	HRAS	OMIM:218040
HP:0025426	Abnormal bronchus morphology	23594	ORC6	OMIM:613803
HP:0025426	Abnormal bronchus morphology	1836	SLC26A2	ORPHA:56304
HP:0025426	Abnormal bronchus morphology	222663	SCUBE3	OMIM:619184
HP:0025426	Abnormal bronchus morphology	3423	IDS	OMIM:309900
HP:0025426	Abnormal bronchus morphology	5879	RAC1	OMIM:617751
HP:0025426	Abnormal bronchus morphology	5879	RAC1	ORPHA:500159
HP:0025426	Abnormal bronchus morphology	25885	POLR1A	OMIM:616462
HP:0025426	Abnormal bronchus morphology	79813	EHMT1	OMIM:610253
HP:0025426	Abnormal bronchus morphology	51053	GMNN	OMIM:616835
HP:0025426	Abnormal bronchus morphology	83844	USP26	OMIM:301101
HP:0025426	Abnormal bronchus morphology	6595	SMARCA2	OMIM:619293
HP:0025426	Abnormal bronchus morphology	139818	DOCK11	OMIM:301109
HP:0025426	Abnormal bronchus morphology	4256	MGP	OMIM:245150
HP:0025426	Abnormal bronchus morphology	23308	ICOSLG	OMIM:620825
HP:0025426	Abnormal bronchus morphology	23765	IL17RA	OMIM:613953
HP:0025426	Abnormal bronchus morphology	3588	IL10RB	OMIM:612567
HP:0025426	Abnormal bronchus morphology	3561	IL2RG	OMIM:312863
HP:0025426	Abnormal bronchus morphology	6901	TAFAZZIN	OMIM:302060
HP:0025426	Abnormal bronchus morphology	26834	RNU4-2	OMIM:620851
HP:0025426	Abnormal bronchus morphology	79158	GNPTAB	OMIM:252500
HP:0025426	Abnormal bronchus morphology	29927	SEC61A1	OMIM:620670
HP:0025426	Abnormal bronchus morphology	64864	RFX7	OMIM:620330
HP:0025426	Abnormal bronchus morphology	65992	DDRGK1	ORPHA:93352
HP:0025426	Abnormal bronchus morphology	415	ARSL	ORPHA:79345
HP:0025426	Abnormal bronchus morphology	5062	PAK2	OMIM:618458
HP:0025426	Abnormal bronchus morphology	79989	IFT56	OMIM:619534
HP:0025426	Abnormal bronchus morphology	23149	FCHO1	OMIM:619164
HP:0025426	Abnormal bronchus morphology	1956	EGFR	OMIM:616069
HP:0025427	Abnormal bronchus physiology	3459	IFNGR1	OMIM:209950
HP:0025427	Abnormal bronchus physiology	546	ATRX	ORPHA:100075
HP:0025427	Abnormal bronchus physiology	7259	TSPYL1	OMIM:608800
HP:0025427	Abnormal bronchus physiology	30009	TBX21	OMIM:208550
HP:0025427	Abnormal bronchus physiology	5732	PTGER2	OMIM:208550
HP:0025427	Abnormal bronchus physiology	2588	GALNS	OMIM:253000
HP:0025427	Abnormal bronchus physiology	240	ALOX5	OMIM:600807
HP:0025427	Abnormal bronchus physiology	6356	CCL11	OMIM:600807
HP:0025427	Abnormal bronchus physiology	7124	TNF	OMIM:600807
HP:0025427	Abnormal bronchus physiology	3176	HNMT	OMIM:600807
HP:0025427	Abnormal bronchus physiology	4589	MUC7	OMIM:600807
HP:0025427	Abnormal bronchus physiology	117156	SCGB3A2	OMIM:600807
HP:0025427	Abnormal bronchus physiology	3135	HLA-G	OMIM:600807
HP:0025427	Abnormal bronchus physiology	3596	IL13	OMIM:600807
HP:0025427	Abnormal bronchus physiology	6392	SDHD	ORPHA:100093
HP:0025427	Abnormal bronchus physiology	404672	GTF2H5	ORPHA:33364
HP:0025427	Abnormal bronchus physiology	833	CARS1	ORPHA:33364
HP:0025427	Abnormal bronchus physiology	2068	ERCC2	ORPHA:33364
HP:0025427	Abnormal bronchus physiology	7737	RNF113A	ORPHA:33364
HP:0025427	Abnormal bronchus physiology	136647	MPLKIP	ORPHA:33364
HP:0025427	Abnormal bronchus physiology	6897	TARS1	ORPHA:33364
HP:0025427	Abnormal bronchus physiology	16	AARS1	ORPHA:33364
HP:0025427	Abnormal bronchus physiology	2071	ERCC3	ORPHA:33364
HP:0025427	Abnormal bronchus physiology	2961	GTF2E2	ORPHA:33364
HP:0025427	Abnormal bronchus physiology	176	ACAN	OMIM:612813
HP:0025429	Abnormal cry	2218	FKTN	ORPHA:272
HP:0025429	Abnormal cry	1145	CHRNE	OMIM:608931
HP:0025429	Abnormal cry	1145	CHRNE	OMIM:605809
HP:0025429	Abnormal cry	2673	GFPT1	OMIM:608931
HP:0025429	Abnormal cry	4728	NDUFS8	OMIM:618222
HP:0025429	Abnormal cry	5913	RAPSN	OMIM:618388
HP:0025429	Abnormal cry	5913	RAPSN	OMIM:616326
HP:0025429	Abnormal cry	157680	VPS13B	ORPHA:193
HP:0025429	Abnormal cry	1144	CHRND	OMIM:616322
HP:0025429	Abnormal cry	57128	LYRM4	OMIM:615595
HP:0025429	Abnormal cry	5393	EXOSC9	OMIM:618065
HP:0025429	Abnormal cry	1103	CHAT	OMIM:254210
HP:0025429	Abnormal cry	1103	CHAT	ORPHA:98914
HP:0025429	Abnormal cry	9453	GGPS1	OMIM:619518
HP:0025429	Abnormal cry	1134	CHRNA1	OMIM:608930
HP:0025429	Abnormal cry	546	ATRX	OMIM:301040
HP:0025429	Abnormal cry	3909	LAMA3	OMIM:245660
HP:0025429	Abnormal cry	4976	OPA1	OMIM:616896
HP:0025429	Abnormal cry	6492	SIM1	ORPHA:398079
HP:0025429	Abnormal cry	60482	SLC5A7	ORPHA:98914
HP:0025429	Abnormal cry	4649	MYO9A	ORPHA:98914
HP:0025429	Abnormal cry	1305	COL13A1	ORPHA:98914
HP:0025429	Abnormal cry	6576	SLC25A1	ORPHA:98914
HP:0025429	Abnormal cry	6843	VAMP1	ORPHA:98914
HP:0025429	Abnormal cry	375790	AGRN	ORPHA:98914
HP:0025429	Abnormal cry	127833	SYT2	ORPHA:98914
HP:0025429	Abnormal cry	127833	SYT2	OMIM:619461
HP:0025429	Abnormal cry	6572	SLC18A3	ORPHA:98914
HP:0025429	Abnormal cry	6616	SNAP25	ORPHA:98914
HP:0025429	Abnormal cry	8292	COLQ	ORPHA:98915
HP:0025429	Abnormal cry	8292	COLQ	OMIM:603034
HP:0025429	Abnormal cry	3913	LAMB2	ORPHA:98915
HP:0025429	Abnormal cry	9200	HACD1	OMIM:619967
HP:0025429	Abnormal cry	3508	IGHMBP2	OMIM:604320
HP:0025429	Abnormal cry	443	ASPA	ORPHA:314911
HP:0025429	Abnormal cry	1410	CRYAB	OMIM:613869
HP:0025429	Abnormal cry	6329	SCN4A	OMIM:620351
HP:0025429	Abnormal cry	6329	SCN4A	OMIM:620369
HP:0025429	Abnormal cry	3908	LAMA2	ORPHA:258
HP:0025429	Abnormal cry	79068	FTO	OMIM:612938
HP:0025429	Abnormal cry	427	ASAH1	ORPHA:333
HP:0025429	Abnormal cry	79989	IFT56	OMIM:619534
HP:0025429	Abnormal cry	4358	MPV17	OMIM:256810
HP:0025429	Abnormal cry	25836	NIPBL	OMIM:122470
HP:0025429	Abnormal cry	54551	MAGEL2	ORPHA:398069
HP:0025429	Abnormal cry	54551	MAGEL2	OMIM:615547
HP:0025429	Abnormal cry	5824	PEX19	OMIM:614886
HP:0025429	Abnormal cry	6261	RYR1	ORPHA:324581
HP:0025429	Abnormal cry	129285	PPP1R21	OMIM:619383
HP:0025429	Abnormal cry	7317	UBA1	OMIM:301830
HP:0025429	Abnormal cry	7170	TPM3	OMIM:255310
HP:0025429	Abnormal cry	57017	COQ9	OMIM:614654
HP:0025429	Abnormal cry	7407	VARS1	OMIM:617802
HP:0025429	Abnormal cry	6638	SNRPN	ORPHA:177907
HP:0025429	Abnormal cry	9325	TRIP4	ORPHA:486815
HP:0025429	Abnormal cry	8085	KMT2D	OMIM:147920
HP:0025429	Abnormal cry	7403	KDM6A	OMIM:147920
HP:0025429	Abnormal cry	374879	ZNF699	OMIM:619488
HP:0025429	Abnormal cry	7253	TSHR	ORPHA:90673
HP:0025429	Abnormal cry	9896	FIG4	OMIM:216340
HP:0025429	Abnormal cry	478	ATP1A3	OMIM:619606
HP:0025429	Abnormal cry	55163	PNPO	ORPHA:79096
HP:0025429	Abnormal cry	498	ATP5F1A	OMIM:615228
HP:0025429	Abnormal cry	249	ALPL	OMIM:241500
HP:0025429	Abnormal cry	18	ABAT	OMIM:613163
HP:0025429	Abnormal cry	4204	MECP2	ORPHA:778
HP:0025429	Abnormal cry	7259	TSPYL1	OMIM:608800
HP:0025429	Abnormal cry	1501	CTNND2	ORPHA:281
HP:0025429	Abnormal cry	9037	SEMA5A	ORPHA:281
HP:0030721	Tetraphocomelia	157570	ESCO2	OMIM:268300
HP:0030721	Tetraphocomelia	3930	LBR	OMIM:215140
HP:0030724	Central nervous system cyst	10682	EBP	ORPHA:401973
HP:0030724	Central nervous system cyst	10682	EBP	OMIM:300960
HP:0030724	Central nervous system cyst	10682	EBP	OMIM:302960
HP:0030724	Central nervous system cyst	56896	DPYSL5	OMIM:619435
HP:0030724	Central nervous system cyst	56896	DPYSL5	ORPHA:7
HP:0030724	Central nervous system cyst	3265	HRAS	ORPHA:2612
HP:0030724	Central nervous system cyst	4893	NRAS	ORPHA:2612
HP:0030724	Central nervous system cyst	4893	NRAS	OMIM:249400
HP:0030724	Central nervous system cyst	23556	PIGN	ORPHA:2059
HP:0030724	Central nervous system cyst	7355	SLC35A2	ORPHA:356961
HP:0030724	Central nervous system cyst	65062	TMEM237	OMIM:614424
HP:0030724	Central nervous system cyst	65062	TMEM237	ORPHA:564
HP:0030724	Central nervous system cyst	7545	ZIC1	OMIM:616602
HP:0030724	Central nervous system cyst	7545	ZIC1	OMIM:618736
HP:0030724	Central nervous system cyst	84942	WDR73	OMIM:251300
HP:0030724	Central nervous system cyst	2737	GLI3	ORPHA:36
HP:0030724	Central nervous system cyst	9786	KIAA0586	ORPHA:397715
HP:0030724	Central nervous system cyst	57465	TBC1D24	OMIM:220500
HP:0030724	Central nervous system cyst	57465	TBC1D24	ORPHA:79500
HP:0030724	Central nervous system cyst	55112	DYNC2I1	ORPHA:93271
HP:0030724	Central nervous system cyst	57560	IFT80	ORPHA:93271
HP:0030724	Central nervous system cyst	57539	WDR35	ORPHA:93271
HP:0030724	Central nervous system cyst	89891	DYNC2I2	ORPHA:93271
HP:0030724	Central nervous system cyst	1436	CSF1R	OMIM:618476
HP:0030724	Central nervous system cyst	84162	BLTP1	OMIM:617822
HP:0030724	Central nervous system cyst	4081	MAB21L1	OMIM:618479
HP:0030724	Central nervous system cyst	4081	MAB21L1	ORPHA:495875
HP:0030724	Central nervous system cyst	51259	TMEM216	OMIM:603194
HP:0030724	Central nervous system cyst	51259	TMEM216	ORPHA:564
HP:0030724	Central nervous system cyst	55636	CHD7	ORPHA:138
HP:0030724	Central nervous system cyst	9723	SEMA3E	ORPHA:138
HP:0030724	Central nervous system cyst	84892	POMGNT2	ORPHA:899
HP:0030724	Central nervous system cyst	1282	COL4A1	ORPHA:899
HP:0030724	Central nervous system cyst	10329	RXYLT1	ORPHA:899
HP:0030724	Central nervous system cyst	11041	B4GAT1	ORPHA:899
HP:0030724	Central nervous system cyst	11041	B4GAT1	OMIM:615287
HP:0030724	Central nervous system cyst	79068	FTO	OMIM:612938
HP:0030724	Central nervous system cyst	57492	ARID1B	OMIM:135900
HP:0030724	Central nervous system cyst	57492	ARID1B	ORPHA:1465
HP:0030724	Central nervous system cyst	3899	AFF3	OMIM:619297
HP:0030724	Central nervous system cyst	25885	POLR1A	OMIM:616462
HP:0030724	Central nervous system cyst	6597	SMARCA4	ORPHA:1465
HP:0030724	Central nervous system cyst	6597	SMARCA4	OMIM:614609
HP:0030724	Central nervous system cyst	6598	SMARCB1	ORPHA:1465
HP:0030724	Central nervous system cyst	6598	SMARCB1	OMIM:614608
HP:0030724	Central nervous system cyst	6659	SOX4	ORPHA:1465
HP:0030724	Central nervous system cyst	8289	ARID1A	ORPHA:1465
HP:0030724	Central nervous system cyst	8289	ARID1A	OMIM:614607
HP:0030724	Central nervous system cyst	5977	DPF2	ORPHA:1465
HP:0030724	Central nervous system cyst	6601	SMARCC2	ORPHA:1465
HP:0030724	Central nervous system cyst	6602	SMARCD1	ORPHA:1465
HP:0030724	Central nervous system cyst	196528	ARID2	ORPHA:1465
HP:0030724	Central nervous system cyst	6605	SMARCE1	ORPHA:1465
HP:0030724	Central nervous system cyst	6605	SMARCE1	OMIM:616938
HP:0030724	Central nervous system cyst	6664	SOX11	ORPHA:1465
HP:0030724	Central nervous system cyst	23545	ATP6V0A2	ORPHA:2834
HP:0030724	Central nervous system cyst	23545	ATP6V0A2	OMIM:219200
HP:0030724	Central nervous system cyst	23545	ATP6V0A2	ORPHA:357074
HP:0030724	Central nervous system cyst	27315	PGAP2	OMIM:614207
HP:0030724	Central nervous system cyst	157570	ESCO2	ORPHA:2319
HP:0030724	Central nervous system cyst	5340	PLG	ORPHA:722
HP:0030724	Central nervous system cyst	5340	PLG	OMIM:217090
HP:0030724	Central nervous system cyst	1717	DHCR7	OMIM:270400
HP:0030724	Central nervous system cyst	84314	TMEM107	ORPHA:564
HP:0030724	Central nervous system cyst	26123	TCTN3	ORPHA:564
HP:0030724	Central nervous system cyst	79867	TCTN2	ORPHA:564
HP:0030724	Central nervous system cyst	80776	B9D2	ORPHA:564
HP:0030724	Central nervous system cyst	80776	B9D2	OMIM:614175
HP:0030724	Central nervous system cyst	79600	TCTN1	ORPHA:564
HP:0030724	Central nervous system cyst	57096	RPGRIP1	ORPHA:564
HP:0030724	Central nervous system cyst	80184	CEP290	ORPHA:564
HP:0030724	Central nervous system cyst	80184	CEP290	OMIM:611134
HP:0030724	Central nervous system cyst	57545	CC2D2A	ORPHA:564
HP:0030724	Central nervous system cyst	79583	TMEM231	ORPHA:564
HP:0030724	Central nervous system cyst	91147	TMEM67	ORPHA:564
HP:0030724	Central nervous system cyst	91147	TMEM67	OMIM:607361
HP:0030724	Central nervous system cyst	79770	TXNDC15	ORPHA:564
HP:0030724	Central nervous system cyst	27077	B9D1	ORPHA:564
HP:0030724	Central nervous system cyst	23322	RPGRIP1L	ORPHA:564
HP:0030724	Central nervous system cyst	54903	MKS1	ORPHA:564
HP:0030724	Central nervous system cyst	54903	MKS1	OMIM:249000
HP:0030724	Central nervous system cyst	27031	NPHP3	OMIM:267010
HP:0030724	Central nervous system cyst	27031	NPHP3	OMIM:208540
HP:0030724	Central nervous system cyst	27031	NPHP3	ORPHA:3032
HP:0030724	Central nervous system cyst	23258	DENND5A	OMIM:617281
HP:0030724	Central nervous system cyst	171023	ASXL1	ORPHA:97297
HP:0030724	Central nervous system cyst	171023	ASXL1	OMIM:605039
HP:0030724	Central nervous system cyst	9184	BUB3	ORPHA:1052
HP:0030724	Central nervous system cyst	699	BUB1	ORPHA:1052
HP:0030724	Central nervous system cyst	9702	CEP57	ORPHA:1052
HP:0030724	Central nervous system cyst	9319	TRIP13	ORPHA:1052
HP:0030724	Central nervous system cyst	701	BUB1B	ORPHA:1052
HP:0030724	Central nervous system cyst	701	BUB1B	OMIM:257300
HP:0030724	Central nervous system cyst	84342	COG8	OMIM:611182
HP:0030724	Central nervous system cyst	84188	FAR1	ORPHA:438178
HP:0030724	Central nervous system cyst	84188	FAR1	OMIM:616154
HP:0030724	Central nervous system cyst	2260	FGFR1	OMIM:613001
HP:0030724	Central nervous system cyst	124997	WDR81	OMIM:617967
HP:0030724	Central nervous system cyst	2683	B4GALT1	OMIM:607091
HP:0030724	Central nervous system cyst	2683	B4GALT1	ORPHA:79332
HP:0030724	Central nervous system cyst	26005	C2CD3	OMIM:615948
HP:0030724	Central nervous system cyst	26005	C2CD3	ORPHA:434179
HP:0030724	Central nervous system cyst	26227	PHGDH	OMIM:256520
HP:0030724	Central nervous system cyst	10804	GJB6	ORPHA:477
HP:0030724	Central nervous system cyst	2706	GJB2	ORPHA:477
HP:0030724	Central nervous system cyst	55605	KIF21A	ORPHA:994
HP:0030724	Central nervous system cyst	4927	NUP88	ORPHA:994
HP:0030724	Central nervous system cyst	7846	TUBA1A	ORPHA:994
HP:0030724	Central nervous system cyst	4654	MYOD1	ORPHA:994
HP:0030724	Central nervous system cyst	54551	MAGEL2	ORPHA:994
HP:0030724	Central nervous system cyst	4593	MUSK	ORPHA:994
HP:0030724	Central nervous system cyst	5913	RAPSN	ORPHA:994
HP:0030724	Central nervous system cyst	6572	SLC18A3	ORPHA:994
HP:0030724	Central nervous system cyst	285489	DOK7	ORPHA:994
HP:0030724	Central nervous system cyst	23126	POGZ	OMIM:616364
HP:0030724	Central nervous system cyst	7737	RNF113A	OMIM:300953
HP:0030724	Central nervous system cyst	56006	SMG9	OMIM:616920
HP:0030724	Central nervous system cyst	998	CDC42	ORPHA:487796
HP:0030724	Central nervous system cyst	51524	TMEM138	OMIM:614465
HP:0030724	Central nervous system cyst	8239	USP9X	ORPHA:480880
HP:0030724	Central nervous system cyst	8239	USP9X	OMIM:300968
HP:0030724	Central nervous system cyst	11128	POLR3A	OMIM:264090
HP:0030724	Central nervous system cyst	4534	MTM1	OMIM:310400
HP:0030724	Central nervous system cyst	526	ATP6V1B2	ORPHA:79500
HP:0030724	Central nervous system cyst	54880	BCOR	OMIM:300166
HP:0030724	Central nervous system cyst	203068	TUBB	OMIM:156610
HP:0030724	Central nervous system cyst	55640	FLVCR2	OMIM:225790
HP:0030724	Central nervous system cyst	28952	CCDC22	OMIM:300963
HP:0030724	Central nervous system cyst	28952	CCDC22	ORPHA:7
HP:0030724	Central nervous system cyst	1654	DDX3X	ORPHA:3338
HP:0030724	Central nervous system cyst	80210	ARMC9	OMIM:617622
HP:0030724	Central nervous system cyst	5500	PPP1CB	OMIM:617506
HP:0030724	Central nervous system cyst	54676	GTPBP2	OMIM:617988
HP:0030724	Central nervous system cyst	5373	PMM2	ORPHA:79318
HP:0030724	Central nervous system cyst	63895	PIEZO2	OMIM:248700
HP:0030724	Central nervous system cyst	2239	GPC4	ORPHA:373
HP:0030724	Central nervous system cyst	2719	GPC3	ORPHA:373
HP:0030724	Central nervous system cyst	132884	EVC2	OMIM:225500
HP:0030724	Central nervous system cyst	2121	EVC	OMIM:225500
HP:0030724	Central nervous system cyst	153241	CEP120	OMIM:616300
HP:0030724	Central nervous system cyst	523	ATP6V1A	ORPHA:357074
HP:0030724	Central nervous system cyst	529	ATP6V1E1	ORPHA:357074
HP:0030724	Central nervous system cyst	3798	KIF5A	OMIM:617235
HP:0030724	Central nervous system cyst	1028	CDKN1C	OMIM:130650
HP:0030724	Central nervous system cyst	3481	IGF2	OMIM:130650
HP:0030724	Central nervous system cyst	3784	KCNQ1	OMIM:130650
HP:0030724	Central nervous system cyst	10984	KCNQ1OT1	OMIM:130650
HP:0030724	Central nervous system cyst	738	VPS51	OMIM:618606
HP:0030724	Central nervous system cyst	10195	ALG3	ORPHA:79321
HP:0030724	Central nervous system cyst	219844	HYLS1	OMIM:236680
HP:0030724	Central nervous system cyst	57020	VPS35L	ORPHA:7
HP:0030724	Central nervous system cyst	4281	MID1	ORPHA:2745
HP:0030724	Central nervous system cyst	8905	AP1S2	OMIM:304340
HP:0030724	Central nervous system cyst	29925	GMPPB	ORPHA:370959
HP:0030724	Central nervous system cyst	79147	FKRP	ORPHA:370959
HP:0030724	Central nervous system cyst	79147	FKRP	OMIM:606612
HP:0030724	Central nervous system cyst	79147	FKRP	OMIM:613153
HP:0030724	Central nervous system cyst	79147	FKRP	ORPHA:370980
HP:0030724	Central nervous system cyst	29954	POMT2	ORPHA:370959
HP:0030724	Central nervous system cyst	29954	POMT2	OMIM:613150
HP:0030724	Central nervous system cyst	84197	POMK	ORPHA:370959
HP:0030724	Central nervous system cyst	55624	POMGNT1	ORPHA:370959
HP:0030724	Central nervous system cyst	55624	POMGNT1	OMIM:613151
HP:0030724	Central nervous system cyst	55624	POMGNT1	OMIM:253280
HP:0030724	Central nervous system cyst	10585	POMT1	ORPHA:370959
HP:0030724	Central nervous system cyst	10585	POMT1	ORPHA:370980
HP:0030724	Central nervous system cyst	148789	B3GALNT2	OMIM:615181
HP:0030724	Central nervous system cyst	79659	DYNC2H1	OMIM:613091
HP:0030724	Central nervous system cyst	1281	COL3A1	OMIM:618343
HP:0030724	Central nervous system cyst	283989	TSEN54	ORPHA:2524
HP:0030724	Central nervous system cyst	116461	TSEN15	ORPHA:2524
HP:0030724	Central nervous system cyst	79042	TSEN34	ORPHA:2524
HP:0030724	Central nervous system cyst	80746	TSEN2	ORPHA:2524
HP:0030724	Central nervous system cyst	51091	SEPSECS	ORPHA:2524
HP:0030724	Central nervous system cyst	284217	LAMA1	OMIM:615960
HP:0030724	Central nervous system cyst	284217	LAMA1	ORPHA:370022
HP:0030724	Central nervous system cyst	8481	OFD1	OMIM:311200
HP:0030724	Central nervous system cyst	1605	DAG1	OMIM:616538
HP:0030724	Central nervous system cyst	1605	DAG1	ORPHA:370997
HP:0030724	Central nervous system cyst	11340	EXOSC8	ORPHA:2254
HP:0030724	Central nervous system cyst	5393	EXOSC9	ORPHA:2254
HP:0030724	Central nervous system cyst	23287	AGTPBP1	ORPHA:2254
HP:0030724	Central nervous system cyst	51010	EXOSC3	ORPHA:2254
HP:0030724	Central nervous system cyst	51010	EXOSC3	OMIM:614678
HP:0030724	Central nervous system cyst	7443	VRK1	ORPHA:2254
HP:0030724	Central nervous system cyst	91137	SLC25A46	ORPHA:2254
HP:0030724	Central nervous system cyst	2218	FKTN	ORPHA:370980
HP:0030724	Central nervous system cyst	2218	FKTN	OMIM:253800
HP:0030724	Central nervous system cyst	729920	CRPPA	ORPHA:370980
HP:0030724	Central nervous system cyst	10844	TUBGCP2	OMIM:618737
HP:0030724	Central nervous system cyst	728294	D2HGDH	OMIM:600721
HP:0030724	Central nervous system cyst	8050	PDHX	OMIM:245349
HP:0030724	Central nervous system cyst	2752	GLUL	OMIM:610015
HP:0030724	Central nervous system cyst	25828	TXN2	OMIM:616811
HP:0030724	Central nervous system cyst	25828	TXN2	ORPHA:478029
HP:0030724	Central nervous system cyst	23007	PLCH1	OMIM:619895
HP:0030724	Central nervous system cyst	64121	RRAGC	OMIM:620609
HP:0030724	Central nervous system cyst	5189	PEX1	OMIM:214100
HP:0030724	Central nervous system cyst	1376	CPT2	OMIM:608836
HP:0030724	Central nervous system cyst	85476	GFM1	OMIM:609060
HP:0030724	Central nervous system cyst	4508	MT-ATP6	ORPHA:225154
HP:0030724	Central nervous system cyst	23636	NUP62	ORPHA:225154
HP:0030724	Central nervous system cyst	53371	NUP54	ORPHA:225154
HP:0030724	Central nervous system cyst	103	ADAR	ORPHA:225154
HP:0030724	Central nervous system cyst	4983	OPHN1	OMIM:300486
HP:0030724	Central nervous system cyst	4983	OPHN1	ORPHA:137831
HP:0030724	Central nervous system cyst	2892	GRIA3	ORPHA:364028
HP:0030724	Central nervous system cyst	160418	TMTC3	OMIM:617255
HP:0030724	Central nervous system cyst	27245	AHDC1	ORPHA:412069
HP:0030724	Central nervous system cyst	27245	AHDC1	OMIM:615829
HP:0030724	Central nervous system cyst	2911	GRM1	OMIM:614831
HP:0030724	Central nervous system cyst	57688	ZSWIM6	ORPHA:1827
HP:0030724	Central nervous system cyst	57688	ZSWIM6	OMIM:603671
HP:0030724	Central nervous system cyst	57572	DOCK6	OMIM:614219
HP:0030724	Central nervous system cyst	57231	SNX14	ORPHA:397709
HP:0030724	Central nervous system cyst	4953	ODC1	OMIM:619075
HP:0030724	Central nervous system cyst	4953	ODC1	ORPHA:544488
HP:0030724	Central nervous system cyst	5162	PDHB	ORPHA:255138
HP:0030724	Central nervous system cyst	26235	FBXL4	OMIM:615471
HP:0030724	Central nervous system cyst	2670	GFAP	ORPHA:363722
HP:0030724	Central nervous system cyst	790955	UQCC3	OMIM:616111
HP:0030724	Central nervous system cyst	2193	FARSA	OMIM:619013
HP:0030724	Central nervous system cyst	387787	LIPT2	OMIM:617668
HP:0030724	Central nervous system cyst	9373	PLAA	OMIM:617527
HP:0030724	Central nervous system cyst	7468	NSD2	OMIM:194190
HP:0030724	Central nervous system cyst	10815	CPLX1	OMIM:194190
HP:0030724	Central nervous system cyst	1487	CTBP1	OMIM:194190
HP:0030724	Central nervous system cyst	53834	FGFRL1	OMIM:194190
HP:0030724	Central nervous system cyst	3954	LETM1	OMIM:194190
HP:0030724	Central nervous system cyst	4952	OCRL	OMIM:309000
HP:0030724	Central nervous system cyst	90952	ESAM	OMIM:620371
HP:0030724	Central nervous system cyst	9897	WASHC5	OMIM:220210
HP:0030724	Central nervous system cyst	2073	ERCC5	OMIM:616570
HP:0030724	Central nervous system cyst	30813	VSX1	OMIM:614195
HP:0030724	Central nervous system cyst	392255	GDF6	OMIM:118100
HP:0030724	Central nervous system cyst	5159	PDGFRB	OMIM:601812
HP:0030724	Central nervous system cyst	18	ABAT	OMIM:613163
HP:0030724	Central nervous system cyst	79848	CSPP1	OMIM:615636
HP:0030724	Central nervous system cyst	1801	DPH1	ORPHA:459061
HP:0030724	Central nervous system cyst	1802	DPH2	ORPHA:459061
HP:0030724	Central nervous system cyst	9215	LARGE1	OMIM:236670
HP:0030724	Central nervous system cyst	2263	FGFR2	OMIM:101200
HP:0030724	Central nervous system cyst	727676	SNORD118	ORPHA:542310
HP:0030724	Central nervous system cyst	9361	LONP1	ORPHA:79243
HP:0030724	Central nervous system cyst	5160	PDHA1	ORPHA:79243
HP:0030724	Central nervous system cyst	374654	KIF7	OMIM:200990
HP:0030724	Central nervous system cyst	1499	CTNNB1	ORPHA:54595
HP:0030724	Central nervous system cyst	673	BRAF	ORPHA:54595
HP:0030724	Central nervous system cyst	3417	IDH1	ORPHA:99646
HP:0030724	Central nervous system cyst	22827	PUF60	ORPHA:508498
HP:0030724	Central nervous system cyst	79971	WLS	OMIM:619648
HP:0030724	Central nervous system cyst	57104	PNPLA2	ORPHA:98908
HP:0030724	Central nervous system cyst	23394	ADNP	OMIM:615873
HP:0030724	Central nervous system cyst	80232	WDR26	OMIM:617616
HP:0030724	Central nervous system cyst	80232	WDR26	ORPHA:513456
HP:0030724	Central nervous system cyst	5718	PSMD12	OMIM:617516
HP:0030724	Central nervous system cyst	5718	PSMD12	ORPHA:529962
HP:0030724	Central nervous system cyst	3845	KRAS	OMIM:600268
HP:0030724	Central nervous system cyst	284058	KANSL1	ORPHA:363965
HP:0030724	Central nervous system cyst	284058	KANSL1	ORPHA:363958
HP:0030724	Central nervous system cyst	26834	RNU4-2	OMIM:620851
HP:0030724	Central nervous system cyst	4841	NONO	OMIM:300967
HP:0030724	Central nervous system cyst	2590	GALNT2	OMIM:618885
HP:0030724	Central nervous system cyst	2186	BPTF	ORPHA:529962
HP:0030724	Central nervous system cyst	23395	LARS2	OMIM:615300
HP:0030724	Central nervous system cyst	7042	TGFB2	OMIM:614816
HP:0030724	Central nervous system cyst	55770	EXOC2	OMIM:619306
HP:0007838	Progressive ptosis	8106	PABPN1	OMIM:164300
HP:0007838	Progressive ptosis	353116	RILPL1	ORPHA:98897
HP:0007838	Progressive ptosis	10755	GIPC1	ORPHA:98897
HP:0007838	Progressive ptosis	29967	LRP12	ORPHA:98897
HP:0007838	Progressive ptosis	100996717	NOTCH2NLC	ORPHA:98897
HP:0033980	Paroxysmal tonic upgaze	57167	SALL4	OMIM:147750
HP:0033980	Paroxysmal tonic upgaze	51091	SEPSECS	OMIM:613811
HP:0033981	Vertebral artery tortuosity	4087	SMAD2	OMIM:619656
HP:0033981	Vertebral artery tortuosity	1289	COL5A1	OMIM:619329
HP:0033982	Celiac artery dissection	1289	COL5A1	OMIM:619329
HP:0033983	Decreased circulating apolipoprotein C-II concentration	344	APOC2	OMIM:207750
HP:0033984	Increased urinary 8-oxo-7,8-dihydroguanosine level	1147	CHUK	OMIM:613630
HP:0033985	Elongated femoral neck	26175	LYSET	OMIM:619345
HP:0033986	Tortuous lymphatic vessels	9620	CELSR1	OMIM:619319
HP:0025430	High-pitched cry	9896	FIG4	OMIM:216340
HP:0025430	High-pitched cry	478	ATP1A3	OMIM:619606
HP:0025430	High-pitched cry	55163	PNPO	ORPHA:79096
HP:0025430	High-pitched cry	498	ATP5F1A	OMIM:615228
HP:0025430	High-pitched cry	249	ALPL	OMIM:241500
HP:0025430	High-pitched cry	18	ABAT	OMIM:613163
HP:0025430	High-pitched cry	4204	MECP2	ORPHA:778
HP:0025431	Staccato cry	7259	TSPYL1	OMIM:608800
HP:0025433	Decreased lecithin cholesterol acyl transferase level	3931	LCAT	OMIM:245900
HP:0025435	Increased circulating lactate dehydrogenase concentration	3043	HBB	ORPHA:232
HP:0025435	Increased circulating lactate dehydrogenase concentration	9056	SLC7A7	ORPHA:470
HP:0025435	Increased circulating lactate dehydrogenase concentration	4952	OCRL	OMIM:300555
HP:0025435	Increased circulating lactate dehydrogenase concentration	4952	OCRL	OMIM:309000
HP:0025435	Increased circulating lactate dehydrogenase concentration	10312	TCIRG1	OMIM:259700
HP:0025435	Increased circulating lactate dehydrogenase concentration	2548	GAA	OMIM:232300
HP:0025435	Increased circulating lactate dehydrogenase concentration	2548	GAA	ORPHA:308552
HP:0025435	Increased circulating lactate dehydrogenase concentration	5828	PEX2	OMIM:614866
HP:0025435	Increased circulating lactate dehydrogenase concentration	3123	HLA-DRB1	ORPHA:747
HP:0025435	Increased circulating lactate dehydrogenase concentration	3123	HLA-DRB1	ORPHA:545
HP:0025435	Increased circulating lactate dehydrogenase concentration	811	CALR	ORPHA:824
HP:0025435	Increased circulating lactate dehydrogenase concentration	4352	MPL	ORPHA:824
HP:0025435	Increased circulating lactate dehydrogenase concentration	3717	JAK2	ORPHA:824
HP:0025435	Increased circulating lactate dehydrogenase concentration	54790	TET2	ORPHA:824
HP:0025435	Increased circulating lactate dehydrogenase concentration	6775	STAT4	ORPHA:93552
HP:0025435	Increased circulating lactate dehydrogenase concentration	6696	SPP1	ORPHA:93552
HP:0025435	Increased circulating lactate dehydrogenase concentration	6303	SAT1	ORPHA:93552
HP:0025435	Increased circulating lactate dehydrogenase concentration	3654	IRAK1	ORPHA:93552
HP:0025435	Increased circulating lactate dehydrogenase concentration	596	BCL2	ORPHA:545
HP:0025435	Increased circulating lactate dehydrogenase concentration	3492	IGH	ORPHA:545
HP:0025435	Increased circulating lactate dehydrogenase concentration	604	BCL6	ORPHA:545
HP:0025435	Increased circulating lactate dehydrogenase concentration	7157	TP53	ORPHA:668
HP:0025435	Increased circulating lactate dehydrogenase concentration	5925	RB1	ORPHA:668
HP:0025435	Increased circulating lactate dehydrogenase concentration	11200	CHEK2	ORPHA:668
HP:0025435	Increased circulating lactate dehydrogenase concentration	79650	USB1	OMIM:604173
HP:0025435	Increased circulating lactate dehydrogenase concentration	6718	AKR1D1	ORPHA:79303
HP:0025435	Increased circulating lactate dehydrogenase concentration	5339	PLEC	ORPHA:254361
HP:0025435	Increased circulating lactate dehydrogenase concentration	4609	MYC	ORPHA:543
HP:0025435	Increased circulating lactate dehydrogenase concentration	23175	LPIN1	OMIM:268200
HP:0025435	Increased circulating lactate dehydrogenase concentration	23175	LPIN1	ORPHA:99845
HP:0025435	Increased circulating lactate dehydrogenase concentration	6573	SLC19A1	OMIM:601775
HP:0025435	Increased circulating lactate dehydrogenase concentration	4522	MTHFD1	OMIM:617780
HP:0025435	Increased circulating lactate dehydrogenase concentration	7504	XK	OMIM:300842
HP:0025435	Increased circulating lactate dehydrogenase concentration	57169	ZNFX1	OMIM:619644
HP:0025435	Increased circulating lactate dehydrogenase concentration	3162	HMOX1	OMIM:614034
HP:0025435	Increased circulating lactate dehydrogenase concentration	1376	CPT2	OMIM:600649
HP:0025435	Increased circulating lactate dehydrogenase concentration	23230	VPS13A	OMIM:200150
HP:0025435	Increased circulating lactate dehydrogenase concentration	23230	VPS13A	ORPHA:2388
HP:0025435	Increased circulating lactate dehydrogenase concentration	6786	STIM1	OMIM:185070
HP:0025435	Increased circulating lactate dehydrogenase concentration	3075	CFH	ORPHA:244242
HP:0025435	Increased circulating lactate dehydrogenase concentration	3426	CFI	ORPHA:244242
HP:0025435	Increased circulating lactate dehydrogenase concentration	4179	CD46	ORPHA:244242
HP:0025435	Increased circulating lactate dehydrogenase concentration	101101692	HELLPAR	ORPHA:244242
HP:0025435	Increased circulating lactate dehydrogenase concentration	226	ALDOA	OMIM:611881
HP:0025435	Increased circulating lactate dehydrogenase concentration	10165	SLC25A13	ORPHA:247598
HP:0025435	Increased circulating lactate dehydrogenase concentration	10531	PITRM1	OMIM:619405
HP:0025435	Increased circulating lactate dehydrogenase concentration	5294	PIK3CG	OMIM:619802
HP:0025435	Increased circulating lactate dehydrogenase concentration	84033	OBSCN	ORPHA:99845
HP:0025435	Increased circulating lactate dehydrogenase concentration	4512	MT-CO1	ORPHA:99845
HP:0025435	Increased circulating lactate dehydrogenase concentration	4514	MT-CO3	ORPHA:99845
HP:0025435	Increased circulating lactate dehydrogenase concentration	5698	PSMB9	OMIM:620796
HP:0025435	Increased circulating lactate dehydrogenase concentration	2729	GCLC	OMIM:230450
HP:0025435	Increased circulating lactate dehydrogenase concentration	54888	NSUN2	OMIM:611091
HP:0025435	Increased circulating lactate dehydrogenase concentration	339855	KY	OMIM:617114
HP:0025435	Increased circulating lactate dehydrogenase concentration	9215	LARGE1	OMIM:613154
HP:0025435	Increased circulating lactate dehydrogenase concentration	2694	CBLIF	OMIM:261000
HP:0025435	Increased circulating lactate dehydrogenase concentration	6208	RPS14	ORPHA:86841
HP:0025435	Increased circulating lactate dehydrogenase concentration	10661	KLF1	OMIM:613673
HP:0025435	Increased circulating lactate dehydrogenase concentration	3988	LIPA	OMIM:278000
HP:0025435	Increased circulating lactate dehydrogenase concentration	57104	PNPLA2	ORPHA:98908
HP:0025435	Increased circulating lactate dehydrogenase concentration	859	CAV3	OMIM:614321
HP:0025435	Increased circulating lactate dehydrogenase concentration	5213	PFKM	OMIM:232800
HP:0025435	Increased circulating lactate dehydrogenase concentration	54543	TOMM7	OMIM:620601
HP:0025435	Increased circulating lactate dehydrogenase concentration	8398	PLA2G6	ORPHA:35069
HP:0025435	Increased circulating lactate dehydrogenase concentration	1719	DHFR	OMIM:613839
HP:0025435	Increased circulating lactate dehydrogenase concentration	6521	SLC4A1	ORPHA:3202
HP:0025435	Increased circulating lactate dehydrogenase concentration	9780	PIEZO1	ORPHA:3202
HP:0025435	Increased circulating lactate dehydrogenase concentration	3783	KCNN4	ORPHA:3202
HP:0025435	Increased circulating lactate dehydrogenase concentration	6005	RHAG	ORPHA:3203
HP:0025435	Increased circulating lactate dehydrogenase concentration	6005	RHAG	ORPHA:71275
HP:0025435	Increased circulating lactate dehydrogenase concentration	64241	ABCG8	OMIM:210250
HP:0025435	Increased circulating lactate dehydrogenase concentration	5277	PIGA	ORPHA:447
HP:0025435	Increased circulating lactate dehydrogenase concentration	1130	LYST	ORPHA:167
HP:0025435	Increased circulating lactate dehydrogenase concentration	3158	HMGCS2	OMIM:605911
HP:0025435	Increased circulating lactate dehydrogenase concentration	146059	CDAN1	OMIM:224120
HP:0025435	Increased circulating lactate dehydrogenase concentration	9131	AIFM1	OMIM:310490
HP:0025435	Increased circulating lactate dehydrogenase concentration	4598	MVK	OMIM:610377
HP:0025435	Increased circulating lactate dehydrogenase concentration	90523	MLIP	OMIM:620138
HP:0025435	Increased circulating lactate dehydrogenase concentration	28976	ACAD9	ORPHA:99901
HP:0025435	Increased circulating lactate dehydrogenase concentration	9493	KIF23	OMIM:105600
HP:0025435	Increased circulating lactate dehydrogenase concentration	6006	RHCE	ORPHA:71275
HP:0025435	Increased circulating lactate dehydrogenase concentration	6007	RHD	ORPHA:71275
HP:0025435	Increased circulating lactate dehydrogenase concentration	2313	FLI1	ORPHA:370348
HP:0025435	Increased circulating lactate dehydrogenase concentration	4613	MYCN	ORPHA:635
HP:0025435	Increased circulating lactate dehydrogenase concentration	238	ALK	ORPHA:635
HP:0025435	Increased circulating lactate dehydrogenase concentration	389421	LIN28B	ORPHA:635
HP:0025435	Increased circulating lactate dehydrogenase concentration	4004	LMO1	ORPHA:635
HP:0025435	Increased circulating lactate dehydrogenase concentration	57531	HACE1	ORPHA:635
HP:0025435	Increased circulating lactate dehydrogenase concentration	8929	PHOX2B	ORPHA:635
HP:0025436	Elevated serum 11-deoxycortisol	5447	POR	OMIM:201750
HP:0025436	Elevated serum 11-deoxycortisol	1585	CYP11B2	ORPHA:556030
HP:0025436	Elevated serum 11-deoxycortisol	1584	CYP11B1	OMIM:202010
HP:0025436	Elevated serum 11-deoxycortisol	84133	ZNRF3	ORPHA:1501
HP:0025436	Elevated serum 11-deoxycortisol	7157	TP53	ORPHA:1501
HP:0025436	Elevated serum 11-deoxycortisol	5573	PRKAR1A	ORPHA:1501
HP:0025436	Elevated serum 11-deoxycortisol	1499	CTNNB1	ORPHA:1501
HP:0025436	Elevated serum 11-deoxycortisol	1029	CDKN2A	ORPHA:1501
HP:0025436	Elevated serum 11-deoxycortisol	7015	TERT	ORPHA:1501
HP:0025437	Macrozoospermia	6795	AURKC	OMIM:243060
HP:0025437	Macrozoospermia	89876	CFAP91	OMIM:619177
HP:0003310	Abnormal odontoid process morphology	84667	HES7	OMIM:613686
HP:0003310	Abnormal odontoid process morphology	145873	MESP2	OMIM:277300
HP:0003310	Abnormal odontoid process morphology	10683	DLL3	OMIM:277300
HP:0003310	Abnormal odontoid process morphology	1280	COL2A1	OMIM:184255
HP:0003310	Abnormal odontoid process morphology	1280	COL2A1	OMIM:184250
HP:0003310	Abnormal odontoid process morphology	1280	COL2A1	ORPHA:485
HP:0003310	Abnormal odontoid process morphology	1280	COL2A1	OMIM:183900
HP:0003310	Abnormal odontoid process morphology	2335	FN1	OMIM:184255
HP:0003310	Abnormal odontoid process morphology	1311	COMP	ORPHA:750
HP:0003310	Abnormal odontoid process morphology	1311	COMP	OMIM:177170
HP:0003310	Abnormal odontoid process morphology	2137	EXTL3	ORPHA:508533
HP:0003310	Abnormal odontoid process morphology	54808	DYM	OMIM:223800
HP:0003310	Abnormal odontoid process morphology	54808	DYM	OMIM:607326
HP:0003310	Abnormal odontoid process morphology	54808	DYM	ORPHA:239
HP:0003310	Abnormal odontoid process morphology	9361	LONP1	OMIM:600373
HP:0003310	Abnormal odontoid process morphology	4921	DDR2	OMIM:271665
HP:0003310	Abnormal odontoid process morphology	59341	TRPV4	OMIM:184252
HP:0003310	Abnormal odontoid process morphology	59341	TRPV4	ORPHA:93314
HP:0003310	Abnormal odontoid process morphology	59341	TRPV4	OMIM:156530
HP:0003310	Abnormal odontoid process morphology	6399	TRAPPC2	ORPHA:93284
HP:0003310	Abnormal odontoid process morphology	4784	NFIX	OMIM:602535
HP:0003310	Abnormal odontoid process morphology	2245	FGD1	OMIM:305400
HP:0003310	Abnormal odontoid process morphology	9131	AIFM1	OMIM:300232
HP:0003310	Abnormal odontoid process morphology	55699	IARS2	OMIM:616007
HP:0003310	Abnormal odontoid process morphology	2588	GALNS	OMIM:253000
HP:0003310	Abnormal odontoid process morphology	2990	GUSB	OMIM:253220
HP:0003310	Abnormal odontoid process morphology	6023	RMRP	OMIM:250250
HP:0003310	Abnormal odontoid process morphology	2317	FLNB	OMIM:272460
HP:0003310	Abnormal odontoid process morphology	411	ARSB	OMIM:253200
HP:0003310	Abnormal odontoid process morphology	25839	COG4	OMIM:618150
HP:0003310	Abnormal odontoid process morphology	25839	COG4	ORPHA:85172
HP:0003310	Abnormal odontoid process morphology	3955	LFNG	OMIM:609813
HP:0003310	Abnormal odontoid process morphology	3636	INPPL1	OMIM:258480
HP:0003310	Abnormal odontoid process morphology	633	BGN	OMIM:300106
HP:0003310	Abnormal odontoid process morphology	9451	EIF2AK3	OMIM:226980
HP:0003310	Abnormal odontoid process morphology	83452	RAB33B	OMIM:615222
HP:0003310	Abnormal odontoid process morphology	2720	GLB1	OMIM:253010
HP:0003310	Abnormal odontoid process morphology	3425	IDUA	OMIM:607014
HP:0003310	Abnormal odontoid process morphology	79158	GNPTAB	OMIM:252500
HP:0003310	Abnormal odontoid process morphology	22943	DKK1	ORPHA:268882
HP:0003310	Abnormal odontoid process morphology	2316	FLNA	OMIM:305620
HP:0003310	Abnormal odontoid process morphology	64802	NMNAT1	OMIM:619260
HP:0003310	Abnormal odontoid process morphology	5832	ALDH18A1	OMIM:616603
HP:0025439	Pharyngitis	10312	TCIRG1	ORPHA:486
HP:0025439	Pharyngitis	6728	SRP19	ORPHA:486
HP:0025439	Pharyngitis	1991	ELANE	ORPHA:486
HP:0025439	Pharyngitis	1991	ELANE	ORPHA:2686
HP:0025439	Pharyngitis	2672	GFI1	ORPHA:486
HP:0025439	Pharyngitis	81570	CLPB	ORPHA:486
HP:0025439	Pharyngitis	3115	HLA-DPB1	ORPHA:133
HP:0025439	Pharyngitis	7852	CXCR4	ORPHA:51636
HP:0025439	Pharyngitis	26191	PTPN22	ORPHA:397
HP:0025439	Pharyngitis	3106	HLA-B	ORPHA:397
HP:0025439	Pharyngitis	3123	HLA-DRB1	ORPHA:397
HP:0025439	Pharyngitis	8974	P4HA2	ORPHA:397
HP:0025439	Pharyngitis	4791	NFKB2	ORPHA:293978
HP:0025439	Pharyngitis	55315	SLC29A3	ORPHA:168569
HP:0025439	Pharyngitis	7132	TNFRSF1A	ORPHA:32960
HP:0025439	Pharyngitis	4068	SH2D1A	OMIM:308240
HP:0025439	Pharyngitis	331	XIAP	OMIM:308240
HP:0025439	Pharyngitis	79087	ALG12	ORPHA:79324
HP:0004602	Cervical C2/C3 vertebral fusion	55252	ASXL2	OMIM:617190
HP:0004602	Cervical C2/C3 vertebral fusion	6910	TBX5	OMIM:142900
HP:0004602	Cervical C2/C3 vertebral fusion	27125	AFF4	ORPHA:444077
HP:0004602	Cervical C2/C3 vertebral fusion	27125	AFF4	OMIM:616368
HP:0004602	Cervical C2/C3 vertebral fusion	2316	FLNA	OMIM:305620
HP:0004602	Cervical C2/C3 vertebral fusion	392255	GDF6	OMIM:118100
HP:0004602	Cervical C2/C3 vertebral fusion	392255	GDF6	ORPHA:2345
HP:0004602	Cervical C2/C3 vertebral fusion	55870	ASH1L	OMIM:617796
HP:0004602	Cervical C2/C3 vertebral fusion	7862	BRPF1	OMIM:617333
HP:0004602	Cervical C2/C3 vertebral fusion	165	AEBP1	OMIM:618000
HP:0004602	Cervical C2/C3 vertebral fusion	22943	DKK1	ORPHA:268882
HP:0004602	Cervical C2/C3 vertebral fusion	9573	GDF3	ORPHA:2345
HP:0004602	Cervical C2/C3 vertebral fusion	4222	MEOX1	ORPHA:2345
HP:0004602	Cervical C2/C3 vertebral fusion	4222	MEOX1	OMIM:214300
HP:0004602	Cervical C2/C3 vertebral fusion	84700	MYO18B	OMIM:616549
HP:0004602	Cervical C2/C3 vertebral fusion	1009	CDH11	OMIM:211380
HP:0004603	Hyperconvex vertebral body endplates	1280	COL2A1	OMIM:184255
HP:0004603	Hyperconvex vertebral body endplates	2335	FN1	OMIM:184255
HP:0004603	Hyperconvex vertebral body endplates	8838	CCN6	ORPHA:1159
HP:0004603	Hyperconvex vertebral body endplates	4796	TONSL	ORPHA:93357
HP:0008467	Thoracic hemivertebrae	4920	ROR2	OMIM:268310
HP:0008467	Thoracic hemivertebrae	22827	PUF60	ORPHA:508498
HP:0008467	Thoracic hemivertebrae	10735	STAG2	OMIM:301043
HP:0008467	Thoracic hemivertebrae	3021	H3-3B	OMIM:619721
HP:0004605	Absent vertebral body mineralization	1280	COL2A1	OMIM:200610
HP:0004605	Absent vertebral body mineralization	1280	COL2A1	ORPHA:93296
HP:0004606	Unossified vertebral bodies	9321	TRIP11	OMIM:200600
HP:0004606	Unossified vertebral bodies	249	ALPL	OMIM:241500
HP:0004606	Unossified vertebral bodies	168667	BMPER	OMIM:608022
HP:0004607	Anterior beaking of lower thoracic vertebrae	2990	GUSB	OMIM:253220
HP:0004607	Anterior beaking of lower thoracic vertebrae	2990	GUSB	ORPHA:584
HP:0004608	Anteriorly placed odontoid process	22943	DKK1	ORPHA:268882
HP:0004608	Anteriorly placed odontoid process	2316	FLNA	OMIM:305620
HP:0030732	Dysplastic tricuspid valve	745	MYRF	OMIM:618280
HP:0030732	Dysplastic tricuspid valve	2294	FOXF1	OMIM:265380
HP:0030732	Dysplastic tricuspid valve	55636	CHD7	OMIM:214800
HP:0030732	Dysplastic tricuspid valve	6885	MAP3K7	OMIM:157800
HP:0030731	Carcinoma	22861	NLRP1	OMIM:615225
HP:0030731	Carcinoma	5728	PTEN	OMIM:158350
HP:0030731	Carcinoma	324	APC	OMIM:175100
HP:0030731	Carcinoma	284654	RSPO1	OMIM:610644
HP:0030731	Carcinoma	1027	CDKN1B	OMIM:610755
HP:0030731	Carcinoma	1736	DKC1	OMIM:305000
HP:0030731	Carcinoma	5426	POLE	OMIM:615083
HP:0030736	Sacrococcygeal teratoma	3110	MNX1	ORPHA:1552
HP:0030736	Sacrococcygeal teratoma	26040	SETBP1	OMIM:269150
HP:0030736	Sacrococcygeal teratoma	26040	SETBP1	ORPHA:798
HP:0030736	Sacrococcygeal teratoma	64324	NSD1	ORPHA:821
HP:0030736	Sacrococcygeal teratoma	10297	APC2	ORPHA:821
HP:0033992	Chronotropic incompetence	10021	HCN4	OMIM:163800
HP:0033992	Chronotropic incompetence	2783	GNB2	OMIM:619464
HP:0025441	Achilles tendon calcification	7486	WRN	OMIM:277700
HP:0025441	Achilles tendon calcification	9365	KL	OMIM:617994
HP:0025443	Abnormal cardiac atrial physiology	659	BMPR2	OMIM:178600
HP:0025444	Reduced amygdala volume	1182	CLCN3	OMIM:619517
HP:0004632	Cervical segmentation defect	2317	FLNB	OMIM:108721
HP:0003311	Hypoplasia of the odontoid process	1280	COL2A1	OMIM:184255
HP:0003311	Hypoplasia of the odontoid process	1280	COL2A1	OMIM:184250
HP:0003311	Hypoplasia of the odontoid process	1280	COL2A1	ORPHA:485
HP:0003311	Hypoplasia of the odontoid process	1280	COL2A1	OMIM:183900
HP:0003311	Hypoplasia of the odontoid process	2335	FN1	OMIM:184255
HP:0003311	Hypoplasia of the odontoid process	1311	COMP	ORPHA:750
HP:0003311	Hypoplasia of the odontoid process	1311	COMP	OMIM:177170
HP:0003311	Hypoplasia of the odontoid process	2137	EXTL3	ORPHA:508533
HP:0003311	Hypoplasia of the odontoid process	54808	DYM	OMIM:223800
HP:0003311	Hypoplasia of the odontoid process	54808	DYM	OMIM:607326
HP:0003311	Hypoplasia of the odontoid process	54808	DYM	ORPHA:239
HP:0003311	Hypoplasia of the odontoid process	9361	LONP1	OMIM:600373
HP:0003311	Hypoplasia of the odontoid process	4921	DDR2	OMIM:271665
HP:0003311	Hypoplasia of the odontoid process	59341	TRPV4	OMIM:184252
HP:0003311	Hypoplasia of the odontoid process	59341	TRPV4	ORPHA:93314
HP:0003311	Hypoplasia of the odontoid process	59341	TRPV4	OMIM:156530
HP:0003311	Hypoplasia of the odontoid process	6399	TRAPPC2	ORPHA:93284
HP:0003311	Hypoplasia of the odontoid process	4784	NFIX	OMIM:602535
HP:0003311	Hypoplasia of the odontoid process	2245	FGD1	OMIM:305400
HP:0003311	Hypoplasia of the odontoid process	9131	AIFM1	OMIM:300232
HP:0003311	Hypoplasia of the odontoid process	55699	IARS2	OMIM:616007
HP:0003311	Hypoplasia of the odontoid process	2588	GALNS	OMIM:253000
HP:0003311	Hypoplasia of the odontoid process	2990	GUSB	OMIM:253220
HP:0003311	Hypoplasia of the odontoid process	6023	RMRP	OMIM:250250
HP:0003311	Hypoplasia of the odontoid process	2317	FLNB	OMIM:272460
HP:0003311	Hypoplasia of the odontoid process	411	ARSB	OMIM:253200
HP:0003311	Hypoplasia of the odontoid process	25839	COG4	OMIM:618150
HP:0003311	Hypoplasia of the odontoid process	25839	COG4	ORPHA:85172
HP:0003311	Hypoplasia of the odontoid process	3955	LFNG	OMIM:609813
HP:0003311	Hypoplasia of the odontoid process	3636	INPPL1	OMIM:258480
HP:0003311	Hypoplasia of the odontoid process	633	BGN	OMIM:300106
HP:0003311	Hypoplasia of the odontoid process	9451	EIF2AK3	OMIM:226980
HP:0003311	Hypoplasia of the odontoid process	83452	RAB33B	OMIM:615222
HP:0003311	Hypoplasia of the odontoid process	2720	GLB1	OMIM:253010
HP:0003311	Hypoplasia of the odontoid process	3425	IDUA	OMIM:607014
HP:0003311	Hypoplasia of the odontoid process	79158	GNPTAB	OMIM:252500
HP:0004616	Cleft vertebral arch	100151683	RNU4ATAC	OMIM:210710
HP:0004617	Butterfly vertebral arch	182	JAG1	OMIM:118450
HP:0004618	Sandwich appearance of vertebral bodies	10312	TCIRG1	OMIM:259700
HP:0004618	Sandwich appearance of vertebral bodies	10312	TCIRG1	ORPHA:210110
HP:0004618	Sandwich appearance of vertebral bodies	8792	TNFRSF11A	OMIM:602080
HP:0004618	Sandwich appearance of vertebral bodies	1186	CLCN7	ORPHA:210110
HP:0004618	Sandwich appearance of vertebral bodies	9842	PLEKHM1	ORPHA:210110
HP:0004618	Sandwich appearance of vertebral bodies	8312	AXIN1	OMIM:620558
HP:0004619	Lumbar kyphoscoliosis	1280	COL2A1	OMIM:156550
HP:0004619	Lumbar kyphoscoliosis	10533	ATG7	OMIM:619422
HP:0004611	Anterior concavity of thoracic vertebrae	9896	FIG4	OMIM:216340
HP:0004611	Anterior concavity of thoracic vertebrae	2316	FLNA	OMIM:309350
HP:0004611	Anterior concavity of thoracic vertebrae	285590	SH3PXD2B	OMIM:249420
HP:0004611	Anterior concavity of thoracic vertebrae	53335	BCL11A	OMIM:617101
HP:0030744	Hyaloid vascular remnant and retrolental mass	4693	NDP	ORPHA:91495
HP:0030744	Hyaloid vascular remnant and retrolental mass	220202	ATOH7	ORPHA:91495
HP:0030744	Hyaloid vascular remnant and retrolental mass	8322	FZD4	ORPHA:91495
HP:0030743	Glial remnants anterior to the optic disc	4693	NDP	ORPHA:91495
HP:0030743	Glial remnants anterior to the optic disc	220202	ATOH7	ORPHA:91495
HP:0030743	Glial remnants anterior to the optic disc	8322	FZD4	ORPHA:91495
HP:0030746	Intraventricular hemorrhage	4774	NFIA	ORPHA:401986
HP:0030746	Intraventricular hemorrhage	284058	KANSL1	ORPHA:363965
HP:0030746	Intraventricular hemorrhage	284058	KANSL1	ORPHA:363958
HP:0030746	Intraventricular hemorrhage	100131801	PET100	OMIM:619055
HP:0030746	Intraventricular hemorrhage	92935	MARS2	OMIM:616430
HP:0030746	Intraventricular hemorrhage	2157	F8	ORPHA:169805
HP:0030746	Intraventricular hemorrhage	26047	CNTNAP2	OMIM:610042
HP:0030746	Intraventricular hemorrhage	55788	LMBRD1	ORPHA:79284
HP:0030746	Intraventricular hemorrhage	6678	SPARC	OMIM:616507
HP:0030746	Intraventricular hemorrhage	165918	RNF168	ORPHA:420741
HP:0030746	Intraventricular hemorrhage	51816	ADA2	ORPHA:820
HP:0030745	Dilatation of the ductus arteriosus	7046	TGFBR1	OMIM:609192
HP:0030745	Dilatation of the ductus arteriosus	7048	TGFBR2	OMIM:610168
HP:0033994	Dependency on parenteral nutrition	6550	SLC9A3	OMIM:616868
HP:0033994	Dependency on parenteral nutrition	6809	STX3	OMIM:619445
HP:0033994	Dependency on parenteral nutrition	54914	FOCAD	OMIM:619991
HP:0033993	Viral encephalitis	3071	NCKAP1L	OMIM:618982
HP:0033993	Viral encephalitis	6772	STAT1	OMIM:614892
HP:0033993	Viral encephalitis	6772	STAT1	OMIM:613796
HP:0033993	Viral encephalitis	677814	SNORA31	OMIM:619396
HP:0033993	Viral encephalitis	7098	TLR3	OMIM:613002
HP:0033993	Viral encephalitis	10525	HYOU1	OMIM:233600
HP:0033993	Viral encephalitis	3661	IRF3	OMIM:616532
HP:0033993	Viral encephalitis	148022	TICAM1	OMIM:614850
HP:0033993	Viral encephalitis	81622	UNC93B1	OMIM:610551
HP:0033993	Viral encephalitis	29110	TBK1	OMIM:617900
HP:0033993	Viral encephalitis	29110	TBK1	OMIM:620880
HP:0033993	Viral encephalitis	7187	TRAF3	OMIM:614849
HP:0033993	Viral encephalitis	939	CD27	OMIM:615122
HP:0033993	Viral encephalitis	51163	DBR1	OMIM:619441
HP:0033993	Viral encephalitis	959	CD40LG	OMIM:308230
HP:0025451	Testicular adrenal rest tumor	56246	MRAP	ORPHA:361
HP:0025451	Testicular adrenal rest tumor	6770	STAR	ORPHA:361
HP:0025451	Testicular adrenal rest tumor	4158	MC2R	ORPHA:361
HP:0025451	Testicular adrenal rest tumor	23530	NNT	ORPHA:361
HP:0025451	Testicular adrenal rest tumor	10587	TXNRD2	ORPHA:361
HP:0025451	Testicular adrenal rest tumor	5573	PRKAR1A	ORPHA:1359
HP:0025451	Testicular adrenal rest tumor	50940	PDE11A	ORPHA:1359
HP:0025451	Testicular adrenal rest tumor	1584	CYP11B1	ORPHA:90795
HP:0025452	Pyoderma gangrenosum	10312	TCIRG1	ORPHA:486
HP:0025452	Pyoderma gangrenosum	6728	SRP19	ORPHA:486
HP:0025452	Pyoderma gangrenosum	1991	ELANE	ORPHA:486
HP:0025452	Pyoderma gangrenosum	2672	GFI1	ORPHA:486
HP:0025452	Pyoderma gangrenosum	81570	CLPB	ORPHA:486
HP:0025452	Pyoderma gangrenosum	9051	PSTPIP1	OMIM:604416
HP:0025452	Pyoderma gangrenosum	4790	NFKB1	OMIM:616576
HP:0025452	Pyoderma gangrenosum	90268	OTULIN	OMIM:619986
HP:0025452	Pyoderma gangrenosum	4210	MEFV	ORPHA:3243
HP:0025452	Pyoderma gangrenosum	4210	MEFV	OMIM:608068
HP:0025452	Pyoderma gangrenosum	5777	PTPN6	ORPHA:3243
HP:0025452	Pyoderma gangrenosum	9948	WDR1	OMIM:150550
HP:0025454	Abnormal CSF metabolite concentration	9131	AIFM1	ORPHA:238329
HP:0025454	Abnormal CSF metabolite concentration	9131	AIFM1	OMIM:300816
HP:0025454	Abnormal CSF metabolite concentration	4702	NDUFA8	OMIM:619272
HP:0025454	Abnormal CSF metabolite concentration	10128	LRPPRC	OMIM:220111
HP:0025454	Abnormal CSF metabolite concentration	10128	LRPPRC	ORPHA:70472
HP:0025454	Abnormal CSF metabolite concentration	4558	MT-TF	ORPHA:550
HP:0025454	Abnormal CSF metabolite concentration	4572	MT-TQ	ORPHA:550
HP:0025454	Abnormal CSF metabolite concentration	4512	MT-CO1	ORPHA:550
HP:0025454	Abnormal CSF metabolite concentration	4513	MT-CO2	ORPHA:550
HP:0025454	Abnormal CSF metabolite concentration	4514	MT-CO3	ORPHA:550
HP:0025454	Abnormal CSF metabolite concentration	4578	MT-TW	ORPHA:550
HP:0025454	Abnormal CSF metabolite concentration	4578	MT-TW	ORPHA:255210
HP:0025454	Abnormal CSF metabolite concentration	4540	MT-ND5	ORPHA:550
HP:0025454	Abnormal CSF metabolite concentration	4540	MT-ND5	ORPHA:255210
HP:0025454	Abnormal CSF metabolite concentration	4541	MT-ND6	ORPHA:550
HP:0025454	Abnormal CSF metabolite concentration	4541	MT-ND6	ORPHA:255210
HP:0025454	Abnormal CSF metabolite concentration	4535	MT-ND1	ORPHA:550
HP:0025454	Abnormal CSF metabolite concentration	4535	MT-ND1	ORPHA:2609
HP:0025454	Abnormal CSF metabolite concentration	4535	MT-ND1	ORPHA:255210
HP:0025454	Abnormal CSF metabolite concentration	4538	MT-ND4	ORPHA:550
HP:0025454	Abnormal CSF metabolite concentration	4538	MT-ND4	ORPHA:255210
HP:0025454	Abnormal CSF metabolite concentration	4567	MT-TL1	ORPHA:550
HP:0025454	Abnormal CSF metabolite concentration	4567	MT-TL1	ORPHA:255210
HP:0025454	Abnormal CSF metabolite concentration	4567	MT-TL1	ORPHA:324525
HP:0025454	Abnormal CSF metabolite concentration	4574	MT-TS1	ORPHA:550
HP:0025454	Abnormal CSF metabolite concentration	4574	MT-TS1	OMIM:220110
HP:0025454	Abnormal CSF metabolite concentration	4575	MT-TS2	ORPHA:550
HP:0025454	Abnormal CSF metabolite concentration	4564	MT-TH	ORPHA:550
HP:0025454	Abnormal CSF metabolite concentration	54539	NDUFB11	ORPHA:2609
HP:0025454	Abnormal CSF metabolite concentration	25915	NDUFAF3	ORPHA:2609
HP:0025454	Abnormal CSF metabolite concentration	25915	NDUFAF3	OMIM:618240
HP:0025454	Abnormal CSF metabolite concentration	51103	NDUFAF1	ORPHA:2609
HP:0025454	Abnormal CSF metabolite concentration	91942	NDUFAF2	ORPHA:2609
HP:0025454	Abnormal CSF metabolite concentration	91942	NDUFAF2	OMIM:618233
HP:0025454	Abnormal CSF metabolite concentration	51300	TIMMDC1	ORPHA:2609
HP:0025454	Abnormal CSF metabolite concentration	4716	NDUFB10	ORPHA:2609
HP:0025454	Abnormal CSF metabolite concentration	4723	NDUFV1	ORPHA:2609
HP:0025454	Abnormal CSF metabolite concentration	4723	NDUFV1	OMIM:618225
HP:0025454	Abnormal CSF metabolite concentration	55572	FOXRED1	ORPHA:2609
HP:0025454	Abnormal CSF metabolite concentration	284184	NDUFAF8	ORPHA:2609
HP:0025454	Abnormal CSF metabolite concentration	55863	TMEM126B	ORPHA:2609
HP:0025454	Abnormal CSF metabolite concentration	4537	MT-ND3	ORPHA:2609
HP:0025454	Abnormal CSF metabolite concentration	4537	MT-ND3	ORPHA:255210
HP:0025454	Abnormal CSF metabolite concentration	4729	NDUFV2	ORPHA:2609
HP:0025454	Abnormal CSF metabolite concentration	4694	NDUFA1	ORPHA:2609
HP:0025454	Abnormal CSF metabolite concentration	4720	NDUFS2	ORPHA:2609
HP:0025454	Abnormal CSF metabolite concentration	4724	NDUFS4	ORPHA:2609
HP:0025454	Abnormal CSF metabolite concentration	4724	NDUFS4	OMIM:252010
HP:0025454	Abnormal CSF metabolite concentration	4726	NDUFS6	ORPHA:2609
HP:0025454	Abnormal CSF metabolite concentration	4728	NDUFS8	ORPHA:2609
HP:0025454	Abnormal CSF metabolite concentration	4722	NDUFS3	ORPHA:2609
HP:0025454	Abnormal CSF metabolite concentration	4722	NDUFS3	OMIM:618230
HP:0025454	Abnormal CSF metabolite concentration	79133	NDUFAF5	ORPHA:2609
HP:0025454	Abnormal CSF metabolite concentration	79133	NDUFAF5	OMIM:618238
HP:0025454	Abnormal CSF metabolite concentration	126328	NDUFA11	ORPHA:2609
HP:0025454	Abnormal CSF metabolite concentration	4709	NDUFB3	ORPHA:2609
HP:0025454	Abnormal CSF metabolite concentration	80224	NUBPL	ORPHA:2609
HP:0025454	Abnormal CSF metabolite concentration	80224	NUBPL	OMIM:618242
HP:0025454	Abnormal CSF metabolite concentration	29078	NDUFAF4	ORPHA:2609
HP:0025454	Abnormal CSF metabolite concentration	374291	NDUFS7	ORPHA:2609
HP:0025454	Abnormal CSF metabolite concentration	4700	NDUFA6	ORPHA:2609
HP:0025454	Abnormal CSF metabolite concentration	4700	NDUFA6	OMIM:618253
HP:0025454	Abnormal CSF metabolite concentration	4536	MT-ND2	ORPHA:2609
HP:0025454	Abnormal CSF metabolite concentration	4536	MT-ND2	ORPHA:255210
HP:0025454	Abnormal CSF metabolite concentration	4719	NDUFS1	ORPHA:2609
HP:0025454	Abnormal CSF metabolite concentration	4719	NDUFS1	OMIM:618226
HP:0025454	Abnormal CSF metabolite concentration	4715	NDUFB9	ORPHA:2609
HP:0025454	Abnormal CSF metabolite concentration	57128	LYRM4	OMIM:615595
HP:0025454	Abnormal CSF metabolite concentration	4570	MT-TN	OMIM:220110
HP:0025454	Abnormal CSF metabolite concentration	6834	SURF1	OMIM:220110
HP:0025454	Abnormal CSF metabolite concentration	1317	SLC31A1	OMIM:620306
HP:0025454	Abnormal CSF metabolite concentration	10059	DNM1L	OMIM:614388
HP:0025454	Abnormal CSF metabolite concentration	6513	SLC2A1	OMIM:612126
HP:0025454	Abnormal CSF metabolite concentration	85476	GFM1	OMIM:609060
HP:0025454	Abnormal CSF metabolite concentration	84334	COA8	ORPHA:436271
HP:0025454	Abnormal CSF metabolite concentration	123263	MTFMT	OMIM:614947
HP:0025454	Abnormal CSF metabolite concentration	10667	FARS2	OMIM:614946
HP:0025454	Abnormal CSF metabolite concentration	8050	PDHX	ORPHA:255182
HP:0025454	Abnormal CSF metabolite concentration	4577	MT-TV	ORPHA:255210
HP:0025454	Abnormal CSF metabolite concentration	4508	MT-ATP6	ORPHA:255210
HP:0025454	Abnormal CSF metabolite concentration	4566	MT-TK	ORPHA:255210
HP:0025454	Abnormal CSF metabolite concentration	51112	TRAPPC12	ORPHA:500144
HP:0025454	Abnormal CSF metabolite concentration	65993	MRPS34	OMIM:617664
HP:0025454	Abnormal CSF metabolite concentration	5160	PDHA1	OMIM:312170
HP:0025454	Abnormal CSF metabolite concentration	5160	PDHA1	ORPHA:79243
HP:0025454	Abnormal CSF metabolite concentration	56997	COQ8A	ORPHA:139485
HP:0025454	Abnormal CSF metabolite concentration	56997	COQ8A	OMIM:612016
HP:0025454	Abnormal CSF metabolite concentration	1352	COX10	OMIM:619046
HP:0025454	Abnormal CSF metabolite concentration	54931	TRMT10C	OMIM:616974
HP:0025454	Abnormal CSF metabolite concentration	3145	HMBS	OMIM:620711
HP:0025454	Abnormal CSF metabolite concentration	51218	GLRX5	OMIM:616859
HP:0025454	Abnormal CSF metabolite concentration	1353	COX11	OMIM:620275
HP:0025454	Abnormal CSF metabolite concentration	4204	MECP2	ORPHA:778
HP:0025454	Abnormal CSF metabolite concentration	87178	PNPT1	ORPHA:319514
HP:0025454	Abnormal CSF metabolite concentration	87178	PNPT1	OMIM:614932
HP:0025454	Abnormal CSF metabolite concentration	1340	COX6B1	OMIM:619051
HP:0025454	Abnormal CSF metabolite concentration	84987	COX14	OMIM:619053
HP:0025454	Abnormal CSF metabolite concentration	55967	NDUFA12	OMIM:618244
HP:0025454	Abnormal CSF metabolite concentration	84340	GFM2	ORPHA:565624
HP:0025454	Abnormal CSF metabolite concentration	84340	GFM2	OMIM:618397
HP:0025454	Abnormal CSF metabolite concentration	1351	COX8A	OMIM:619059
HP:0025454	Abnormal CSF metabolite concentration	4358	MPV17	OMIM:618400
HP:0025454	Abnormal CSF metabolite concentration	4358	MPV17	OMIM:256810
HP:0025454	Abnormal CSF metabolite concentration	116228	COX20	OMIM:619054
HP:0025454	Abnormal CSF metabolite concentration	100131801	PET100	OMIM:619055
HP:0025454	Abnormal CSF metabolite concentration	4705	NDUFA10	OMIM:618243
HP:0025454	Abnormal CSF metabolite concentration	55157	DARS2	ORPHA:137898
HP:0025454	Abnormal CSF metabolite concentration	291	SLC25A4	OMIM:615418
HP:0025454	Abnormal CSF metabolite concentration	291	SLC25A4	OMIM:617184
HP:0025454	Abnormal CSF metabolite concentration	9361	LONP1	ORPHA:79243
HP:0025454	Abnormal CSF metabolite concentration	91647	ATPAF2	OMIM:604273
HP:0025454	Abnormal CSF metabolite concentration	8802	SUCLG1	OMIM:245400
HP:0025454	Abnormal CSF metabolite concentration	8802	SUCLG1	ORPHA:17
HP:0025454	Abnormal CSF metabolite concentration	100303755	PET117	OMIM:619063
HP:0025454	Abnormal CSF metabolite concentration	4697	NDUFA4	OMIM:619065
HP:0025454	Abnormal CSF metabolite concentration	4714	NDUFB8	OMIM:618252
HP:0025454	Abnormal CSF metabolite concentration	790955	UQCC3	OMIM:616111
HP:0025454	Abnormal CSF metabolite concentration	84300	UQCC2	OMIM:615824
HP:0025454	Abnormal CSF metabolite concentration	79731	NARS2	OMIM:616239
HP:0025454	Abnormal CSF metabolite concentration	27010	TPK1	OMIM:614458
HP:0025454	Abnormal CSF metabolite concentration	3028	HSD17B10	ORPHA:391428
HP:0025454	Abnormal CSF metabolite concentration	9997	SCO2	OMIM:604377
HP:0025454	Abnormal CSF metabolite concentration	64849	SLC13A3	OMIM:618384
HP:0025454	Abnormal CSF metabolite concentration	92609	TIMM50	OMIM:617698
HP:0025454	Abnormal CSF metabolite concentration	4191	MDH2	OMIM:617339
HP:0025454	Abnormal CSF metabolite concentration	90624	LYRM7	OMIM:615838
HP:0025454	Abnormal CSF metabolite concentration	8659	ALDH4A1	ORPHA:79101
HP:0025454	Abnormal CSF metabolite concentration	128240	NAXE	OMIM:617186
HP:0025454	Abnormal CSF metabolite concentration	25828	TXN2	ORPHA:478029
HP:0025454	Abnormal CSF metabolite concentration	25828	TXN2	OMIM:616811
HP:0025454	Abnormal CSF metabolite concentration	4976	OPA1	OMIM:616896
HP:0025454	Abnormal CSF metabolite concentration	539	ATP5PO	OMIM:620359
HP:0025454	Abnormal CSF metabolite concentration	57038	RARS2	OMIM:611523
HP:0025454	Abnormal CSF metabolite concentration	200205	IBA57	OMIM:615330
HP:0025454	Abnormal CSF metabolite concentration	60386	SLC25A19	OMIM:613710
HP:0025454	Abnormal CSF metabolite concentration	55005	RMND1	OMIM:614922
HP:0025454	Abnormal CSF metabolite concentration	64116	SLC39A8	ORPHA:468699
HP:0025454	Abnormal CSF metabolite concentration	27247	NFU1	OMIM:605711
HP:0025454	Abnormal CSF metabolite concentration	84842	HPDL	OMIM:619026
HP:0025454	Abnormal CSF metabolite concentration	81570	CLPB	OMIM:616271
HP:0025454	Abnormal CSF metabolite concentration	1892	ECHS1	OMIM:616277
HP:0025454	Abnormal CSF metabolite concentration	8803	SUCLA2	OMIM:612073
HP:0025454	Abnormal CSF metabolite concentration	133686	NADK2	OMIM:616034
HP:0025454	Abnormal CSF metabolite concentration	50484	RRM2B	OMIM:612075
HP:0025454	Abnormal CSF metabolite concentration	27429	HTRA2	OMIM:617248
HP:0025454	Abnormal CSF metabolite concentration	2643	GCH1	ORPHA:98808
HP:0025454	Abnormal CSF metabolite concentration	4929	NR4A2	ORPHA:98808
HP:0025454	Abnormal CSF metabolite concentration	4929	NR4A2	OMIM:619911
HP:0025454	Abnormal CSF metabolite concentration	3615	IMPDH2	ORPHA:98808
HP:0025454	Abnormal CSF metabolite concentration	7054	TH	OMIM:605407
HP:0025454	Abnormal CSF metabolite concentration	7054	TH	ORPHA:101150
HP:0025454	Abnormal CSF metabolite concentration	55163	PNPO	ORPHA:79096
HP:0025454	Abnormal CSF metabolite concentration	55163	PNPO	OMIM:610090
HP:0025454	Abnormal CSF metabolite concentration	9256	TSPOAP1	ORPHA:101150
HP:0025454	Abnormal CSF metabolite concentration	11277	TREX1	OMIM:225750
HP:0025454	Abnormal CSF metabolite concentration	11277	TREX1	ORPHA:51
HP:0025454	Abnormal CSF metabolite concentration	10535	RNASEH2A	ORPHA:51
HP:0025454	Abnormal CSF metabolite concentration	84153	RNASEH2C	ORPHA:51
HP:0025454	Abnormal CSF metabolite concentration	25939	SAMHD1	ORPHA:51
HP:0025454	Abnormal CSF metabolite concentration	79621	RNASEH2B	ORPHA:51
HP:0025454	Abnormal CSF metabolite concentration	103	ADAR	ORPHA:51
HP:0025454	Abnormal CSF metabolite concentration	103	ADAR	OMIM:615010
HP:0025454	Abnormal CSF metabolite concentration	100147744	RNU7-1	ORPHA:51
HP:0025454	Abnormal CSF metabolite concentration	134353	LSM11	ORPHA:51
HP:0025454	Abnormal CSF metabolite concentration	64135	IFIH1	ORPHA:51
HP:0025454	Abnormal CSF metabolite concentration	7187	TRAF3	ORPHA:1930
HP:0025454	Abnormal CSF metabolite concentration	81622	UNC93B1	ORPHA:1930
HP:0025454	Abnormal CSF metabolite concentration	148022	TICAM1	ORPHA:1930
HP:0025454	Abnormal CSF metabolite concentration	7098	TLR3	ORPHA:1930
HP:0025454	Abnormal CSF metabolite concentration	29110	TBK1	ORPHA:1930
HP:0025454	Abnormal CSF metabolite concentration	26834	RNU4-2	OMIM:620851
HP:0025454	Abnormal CSF metabolite concentration	50640	PNPLA8	OMIM:251950
HP:0025454	Abnormal CSF metabolite concentration	1719	DHFR	OMIM:613839
HP:0025454	Abnormal CSF metabolite concentration	6711	SPTBN1	OMIM:619475
HP:0025454	Abnormal CSF metabolite concentration	5805	PTS	OMIM:261640
HP:0025454	Abnormal CSF metabolite concentration	55768	NGLY1	OMIM:615273
HP:0025454	Abnormal CSF metabolite concentration	55768	NGLY1	ORPHA:404454
HP:0025454	Abnormal CSF metabolite concentration	2074	ERCC6	OMIM:278800
HP:0025454	Abnormal CSF metabolite concentration	1644	DDC	ORPHA:35708
HP:0025454	Abnormal CSF metabolite concentration	443	ASPA	OMIM:271900
HP:0025454	Abnormal CSF metabolite concentration	7915	ALDH5A1	OMIM:271980
HP:0025454	Abnormal CSF metabolite concentration	1327	COX4I1	OMIM:619060
HP:0025454	Abnormal CSF metabolite concentration	6531	SLC6A3	OMIM:613135
HP:0025454	Abnormal CSF metabolite concentration	435	ASL	OMIM:207900
HP:0025454	Abnormal CSF metabolite concentration	6773	STAT2	OMIM:616636
HP:0025454	Abnormal CSF metabolite concentration	3735	KARS1	OMIM:619147
HP:0025454	Abnormal CSF metabolite concentration	22934	RPIA	OMIM:608611
HP:0025454	Abnormal CSF metabolite concentration	1738	DLD	OMIM:246900
HP:0025454	Abnormal CSF metabolite concentration	10295	BCKDK	OMIM:614923
HP:0025454	Abnormal CSF metabolite concentration	2752	GLUL	OMIM:610015
HP:0025454	Abnormal CSF metabolite concentration	2752	GLUL	OMIM:620806
HP:0025454	Abnormal CSF metabolite concentration	5277	PIGA	OMIM:301072
HP:0025454	Abnormal CSF metabolite concentration	132	ADK	OMIM:614300
HP:0025454	Abnormal CSF metabolite concentration	29968	PSAT1	OMIM:610992
HP:0025454	Abnormal CSF metabolite concentration	388962	BOLA3	OMIM:614299
HP:0025454	Abnormal CSF metabolite concentration	2653	GCSH	OMIM:620423
HP:0025454	Abnormal CSF metabolite concentration	275	AMT	OMIM:620398
HP:0025454	Abnormal CSF metabolite concentration	1737	DLAT	ORPHA:79244
HP:0025454	Abnormal CSF metabolite concentration	10157	AASS	ORPHA:2203
HP:0025454	Abnormal CSF metabolite concentration	1593	CYP27A1	OMIM:213700
HP:0025454	Abnormal CSF metabolite concentration	51733	UPB1	OMIM:613161
HP:0025454	Abnormal CSF metabolite concentration	1807	DPYS	OMIM:222748
HP:0025454	Abnormal CSF metabolite concentration	728294	D2HGDH	OMIM:600721
HP:0025454	Abnormal CSF metabolite concentration	6576	SLC25A1	OMIM:615182
HP:0025454	Abnormal CSF metabolite concentration	132158	GLYCTK	OMIM:220120
HP:0025454	Abnormal CSF metabolite concentration	5193	PEX12	OMIM:266510
HP:0025455	Decreased CSF 5-hydroxyindolacetic acid concentration	5805	PTS	OMIM:261640
HP:0025455	Decreased CSF 5-hydroxyindolacetic acid concentration	55768	NGLY1	OMIM:615273
HP:0025455	Decreased CSF 5-hydroxyindolacetic acid concentration	55768	NGLY1	ORPHA:404454
HP:0025455	Decreased CSF 5-hydroxyindolacetic acid concentration	2074	ERCC6	OMIM:278800
HP:0025455	Decreased CSF 5-hydroxyindolacetic acid concentration	1644	DDC	ORPHA:35708
HP:0025456	Abnormal CSF protein concentration	5621	PRNP	ORPHA:282166
HP:0025456	Abnormal CSF protein concentration	5621	PRNP	OMIM:123400
HP:0025456	Abnormal CSF protein concentration	4558	MT-TF	ORPHA:550
HP:0025456	Abnormal CSF protein concentration	4572	MT-TQ	ORPHA:550
HP:0025456	Abnormal CSF protein concentration	4512	MT-CO1	ORPHA:550
HP:0025456	Abnormal CSF protein concentration	4513	MT-CO2	ORPHA:550
HP:0025456	Abnormal CSF protein concentration	4514	MT-CO3	ORPHA:550
HP:0025456	Abnormal CSF protein concentration	4578	MT-TW	ORPHA:550
HP:0025456	Abnormal CSF protein concentration	4540	MT-ND5	ORPHA:550
HP:0025456	Abnormal CSF protein concentration	4541	MT-ND6	ORPHA:550
HP:0025456	Abnormal CSF protein concentration	4535	MT-ND1	ORPHA:550
HP:0025456	Abnormal CSF protein concentration	4538	MT-ND4	ORPHA:550
HP:0025456	Abnormal CSF protein concentration	4567	MT-TL1	ORPHA:550
HP:0025456	Abnormal CSF protein concentration	4567	MT-TL1	ORPHA:480
HP:0025456	Abnormal CSF protein concentration	4574	MT-TS1	ORPHA:550
HP:0025456	Abnormal CSF protein concentration	4575	MT-TS2	ORPHA:550
HP:0025456	Abnormal CSF protein concentration	4564	MT-TH	ORPHA:550
HP:0025456	Abnormal CSF protein concentration	410	ARSA	ORPHA:309256
HP:0025456	Abnormal CSF protein concentration	410	ARSA	ORPHA:309271
HP:0025456	Abnormal CSF protein concentration	410	ARSA	ORPHA:309263
HP:0025456	Abnormal CSF protein concentration	410	ARSA	OMIM:250100
HP:0025456	Abnormal CSF protein concentration	5660	PSAP	ORPHA:309256
HP:0025456	Abnormal CSF protein concentration	5660	PSAP	OMIM:249900
HP:0025456	Abnormal CSF protein concentration	5660	PSAP	OMIM:611722
HP:0025456	Abnormal CSF protein concentration	5660	PSAP	ORPHA:309271
HP:0025456	Abnormal CSF protein concentration	5660	PSAP	ORPHA:206436
HP:0025456	Abnormal CSF protein concentration	5660	PSAP	ORPHA:309263
HP:0025456	Abnormal CSF protein concentration	10367	MICU1	OMIM:615673
HP:0025456	Abnormal CSF protein concentration	100996717	NOTCH2NLC	OMIM:619473
HP:0025456	Abnormal CSF protein concentration	100996717	NOTCH2NLC	OMIM:603472
HP:0025456	Abnormal CSF protein concentration	5428	POLG	OMIM:258450
HP:0025456	Abnormal CSF protein concentration	5428	POLG	OMIM:203700
HP:0025456	Abnormal CSF protein concentration	5428	POLG	ORPHA:298
HP:0025456	Abnormal CSF protein concentration	8659	ALDH4A1	ORPHA:79101
HP:0025456	Abnormal CSF protein concentration	285362	SUMF1	OMIM:272200
HP:0025456	Abnormal CSF protein concentration	5551	PRF1	OMIM:603553
HP:0025456	Abnormal CSF protein concentration	2581	GALC	ORPHA:206443
HP:0025456	Abnormal CSF protein concentration	2581	GALC	ORPHA:206448
HP:0025456	Abnormal CSF protein concentration	2581	GALC	ORPHA:206436
HP:0025456	Abnormal CSF protein concentration	2581	GALC	OMIM:245200
HP:0025456	Abnormal CSF protein concentration	5191	PEX7	OMIM:266500
HP:0025456	Abnormal CSF protein concentration	5264	PHYH	OMIM:266500
HP:0025456	Abnormal CSF protein concentration	25828	TXN2	ORPHA:478029
HP:0025456	Abnormal CSF protein concentration	25828	TXN2	OMIM:616811
HP:0025456	Abnormal CSF protein concentration	2670	GFAP	OMIM:203450
HP:0025456	Abnormal CSF protein concentration	100506658	OCLN	OMIM:251290
HP:0025456	Abnormal CSF protein concentration	5698	PSMB9	OMIM:620796
HP:0025456	Abnormal CSF protein concentration	1890	TYMP	ORPHA:298
HP:0025456	Abnormal CSF protein concentration	3980	LIG3	ORPHA:298
HP:0025456	Abnormal CSF protein concentration	50484	RRM2B	ORPHA:298
HP:0025456	Abnormal CSF protein concentration	50484	RRM2B	ORPHA:480
HP:0025456	Abnormal CSF protein concentration	51099	ABHD5	ORPHA:98907
HP:0025456	Abnormal CSF protein concentration	4724	NDUFS4	OMIM:252010
HP:0025456	Abnormal CSF protein concentration	966	CD59	OMIM:612300
HP:0025456	Abnormal CSF protein concentration	4358	MPV17	OMIM:256810
HP:0025456	Abnormal CSF protein concentration	3119	HLA-DQB1	OMIM:123400
HP:0025456	Abnormal CSF protein concentration	773	CACNA1A	ORPHA:569
HP:0025456	Abnormal CSF protein concentration	112476	PRRT2	ORPHA:569
HP:0025456	Abnormal CSF protein concentration	6323	SCN1A	ORPHA:569
HP:0025456	Abnormal CSF protein concentration	477	ATP1A2	ORPHA:569
HP:0025456	Abnormal CSF protein concentration	7276	TTR	OMIM:105210
HP:0025456	Abnormal CSF protein concentration	5903	RANBP2	OMIM:608033
HP:0025456	Abnormal CSF protein concentration	5903	RANBP2	ORPHA:88619
HP:0025456	Abnormal CSF protein concentration	2632	GBE1	OMIM:263570
HP:0025456	Abnormal CSF protein concentration	2512	FTL	ORPHA:157846
HP:0025456	Abnormal CSF protein concentration	587	BCAT2	OMIM:618850
HP:0025456	Abnormal CSF protein concentration	4509	MT-ATP8	ORPHA:480
HP:0025456	Abnormal CSF protein concentration	5376	PMP22	OMIM:145900
HP:0025456	Abnormal CSF protein concentration	4359	MPZ	OMIM:145900
HP:0025456	Abnormal CSF protein concentration	4359	MPZ	ORPHA:101082
HP:0025456	Abnormal CSF protein concentration	1959	EGR2	OMIM:145900
HP:0025456	Abnormal CSF protein concentration	57716	PRX	OMIM:145900
HP:0025456	Abnormal CSF protein concentration	4001	LMNB1	ORPHA:99027
HP:0025456	Abnormal CSF protein concentration	56244	BTNL2	ORPHA:797
HP:0025456	Abnormal CSF protein concentration	3123	HLA-DRB1	ORPHA:797
HP:0025456	Abnormal CSF protein concentration	9990	SLC12A6	OMIM:218000
HP:0025456	Abnormal CSF protein concentration	7187	TRAF3	ORPHA:1930
HP:0025456	Abnormal CSF protein concentration	81622	UNC93B1	ORPHA:1930
HP:0025456	Abnormal CSF protein concentration	148022	TICAM1	ORPHA:1930
HP:0025456	Abnormal CSF protein concentration	7098	TLR3	ORPHA:1930
HP:0025456	Abnormal CSF protein concentration	29110	TBK1	ORPHA:1930
HP:0025456	Abnormal CSF protein concentration	55768	NGLY1	ORPHA:404454
HP:0025456	Abnormal CSF protein concentration	6558	SLC12A2	OMIM:619080
HP:0025456	Abnormal CSF protein concentration	8893	EIF2B5	OMIM:620315
HP:0025457	Decreased CSF protein concentration	55768	NGLY1	ORPHA:404454
HP:0025458	Decreased CSF albumin concentration	55768	NGLY1	OMIM:615273
HP:0025458	Decreased CSF albumin concentration	55768	NGLY1	ORPHA:404454
HP:0004622	Progressive intervertebral space narrowing	4509	MT-ATP8	ORPHA:480
HP:0004622	Progressive intervertebral space narrowing	4567	MT-TL1	ORPHA:480
HP:0004622	Progressive intervertebral space narrowing	50484	RRM2B	ORPHA:480
HP:0004621	Enlarged vertebral pedicles	4089	SMAD4	OMIM:139210
HP:0004625	Biconvex vertebral bodies	2335	FN1	ORPHA:93315
HP:0004625	Biconvex vertebral bodies	1280	COL2A1	ORPHA:93315
HP:0004625	Biconvex vertebral bodies	100151683	RNU4ATAC	ORPHA:353298
HP:0004625	Biconvex vertebral bodies	100151683	RNU4ATAC	OMIM:616651
HP:0004625	Biconvex vertebral bodies	6023	RMRP	ORPHA:175
HP:0004625	Biconvex vertebral bodies	9321	TRIP11	OMIM:184260
HP:0004626	Lumbar scoliosis	1280	COL2A1	OMIM:156550
HP:0004626	Lumbar scoliosis	10533	ATG7	OMIM:619422
HP:0004626	Lumbar scoliosis	9361	LONP1	OMIM:600373
HP:0004626	Lumbar scoliosis	10733	PLK4	OMIM:616171
HP:0004626	Lumbar scoliosis	7840	ALMS1	ORPHA:64
HP:0004626	Lumbar scoliosis	6134	RPL10	OMIM:300998
HP:0004626	Lumbar scoliosis	55870	ASH1L	OMIM:617796
HP:0004626	Lumbar scoliosis	51199	NIN	OMIM:614851
HP:0004626	Lumbar scoliosis	51199	NIN	ORPHA:319675
HP:0004626	Lumbar scoliosis	164	AP1G1	OMIM:619548
HP:0004626	Lumbar scoliosis	347734	SLC35B2	OMIM:620269
HP:0004626	Lumbar scoliosis	9060	PAPSS2	OMIM:612847
HP:0004626	Lumbar scoliosis	79158	GNPTAB	OMIM:252500
HP:0004626	Lumbar scoliosis	526	ATP6V1B2	ORPHA:79500
HP:0004626	Lumbar scoliosis	57465	TBC1D24	ORPHA:79500
HP:0004626	Lumbar scoliosis	3373	HYAL1	OMIM:601492
HP:0004626	Lumbar scoliosis	3417	IDH1	ORPHA:99646
HP:0004629	Small cervical vertebral bodies	79848	CSPP1	ORPHA:397715
HP:0004629	Small cervical vertebral bodies	9786	KIAA0586	ORPHA:397715
HP:0004629	Small cervical vertebral bodies	90	ACVR1	OMIM:135100
HP:0008476	Irregular sclerotic endplates	4322	MMP13	OMIM:602111
HP:0008476	Irregular sclerotic endplates	11128	POLR3A	ORPHA:3455
HP:0030752	Dacryocystocele	23347	SMCHD1	ORPHA:2250
HP:0030752	Dacryocystocele	3321	IGSF3	OMIM:149700
HP:0030752	Dacryocystocele	23137	SMC5	OMIM:620185
HP:0030758	Periapical tooth abscess	1747	DLX3	ORPHA:3352
HP:0030757	Tooth abscess	4914	NTRK1	ORPHA:642
HP:0030757	Tooth abscess	1186	CLCN7	ORPHA:53
HP:0030757	Tooth abscess	5251	PHEX	ORPHA:89936
HP:0030757	Tooth abscess	8074	FGF23	ORPHA:89937
HP:0030757	Tooth abscess	1758	DMP1	ORPHA:289176
HP:0030757	Tooth abscess	5167	ENPP1	ORPHA:289176
HP:0030757	Tooth abscess	1991	ELANE	ORPHA:2686
HP:0030757	Tooth abscess	1747	DLX3	ORPHA:3352
HP:0030756	Erythrodontia	7390	UROS	OMIM:263700
HP:0030756	Erythrodontia	7390	UROS	ORPHA:79277
HP:0030756	Erythrodontia	2623	GATA1	ORPHA:79277
HP:0030756	Erythrodontia	7389	UROD	ORPHA:95159
HP:0033996	Microvillar PAS-positive secretory granules	6809	STX3	OMIM:619445
HP:0025460	High myoinositol in brain by MRS	55768	NGLY1	OMIM:615273
HP:0025460	High myoinositol in brain by MRS	11128	POLR3A	ORPHA:447896
HP:0025461	Abnormal cell morphology	24145	PANX1	ORPHA:488191
HP:0025461	Abnormal cell morphology	494551	WEE2	ORPHA:488191
HP:0025461	Abnormal cell morphology	197135	PATL2	ORPHA:488191
HP:0025461	Abnormal cell morphology	347688	TUBB8	ORPHA:488191
HP:0025461	Abnormal cell morphology	7783	ZP2	OMIM:618353
HP:0025461	Abnormal cell morphology	5428	POLG	ORPHA:298
HP:0025461	Abnormal cell morphology	1890	TYMP	ORPHA:298
HP:0025461	Abnormal cell morphology	3980	LIG3	ORPHA:298
HP:0025461	Abnormal cell morphology	50484	RRM2B	ORPHA:298
HP:0025461	Abnormal cell morphology	65998	ZFTA	ORPHA:251636
HP:0025461	Abnormal cell morphology	6311	ATXN2	ORPHA:98756
HP:0025461	Abnormal cell morphology	7414	VCL	OMIM:613255
HP:0025461	Abnormal cell morphology	7137	TNNI3	OMIM:611880
HP:0025461	Abnormal cell morphology	57538	ALPK3	OMIM:618052
HP:0025461	Abnormal cell morphology	70	ACTC1	OMIM:613424
HP:0025461	Abnormal cell morphology	1832	DSP	OMIM:605676
HP:0025461	Abnormal cell morphology	88	ACTN2	OMIM:612158
HP:0025461	Abnormal cell morphology	54800	KLHL24	OMIM:620236
HP:0025461	Abnormal cell morphology	2992	GYG1	ORPHA:263297
HP:0025461	Abnormal cell morphology	2992	GYG1	OMIM:613507
HP:0025461	Abnormal cell morphology	22845	DOLK	ORPHA:91131
HP:0025461	Abnormal cell morphology	493753	COA5	OMIM:616500
HP:0025461	Abnormal cell morphology	779	CACNA1S	ORPHA:423
HP:0025461	Abnormal cell morphology	6261	RYR1	ORPHA:423
HP:0025461	Abnormal cell morphology	57104	PNPLA2	ORPHA:565612
HP:0025461	Abnormal cell morphology	7139	TNNT2	OMIM:612422
HP:0025461	Abnormal cell morphology	442721	LMOD2	OMIM:619897
HP:0025461	Abnormal cell morphology	7298	TYMS	OMIM:620040
HP:0025461	Abnormal cell morphology	26277	TINF2	OMIM:268130
HP:0025461	Abnormal cell morphology	26277	TINF2	OMIM:613990
HP:0025461	Abnormal cell morphology	51750	RTEL1	OMIM:616373
HP:0025461	Abnormal cell morphology	55596	ZCCHC8	OMIM:618674
HP:0025461	Abnormal cell morphology	5073	PARN	OMIM:616371
HP:0025461	Abnormal cell morphology	5073	PARN	OMIM:616353
HP:0025461	Abnormal cell morphology	134218	DNAJC21	OMIM:617052
HP:0025461	Abnormal cell morphology	65057	ACD	OMIM:616553
HP:0025461	Abnormal cell morphology	7157	TP53	OMIM:618165
HP:0025461	Abnormal cell morphology	7015	TERT	OMIM:614742
HP:0025461	Abnormal cell morphology	4194	MDM4	OMIM:618849
HP:0025461	Abnormal cell morphology	6117	RPA1	OMIM:619767
HP:0025461	Abnormal cell morphology	55505	NOP10	OMIM:620400
HP:0025461	Abnormal cell morphology	25913	POT1	OMIM:620367
HP:0025461	Abnormal cell morphology	55135	WRAP53	OMIM:613988
HP:0025461	Abnormal cell morphology	6123	RPL3L	OMIM:619371
HP:0025461	Abnormal cell morphology	5190	PEX6	OMIM:614862
HP:0025461	Abnormal cell morphology	22917	ZP1	OMIM:615774
HP:0011017	Abnormal cellular physiology	64421	DCLRE1C	ORPHA:275
HP:0011017	Abnormal cellular physiology	695	BTK	OMIM:300755
HP:0011017	Abnormal cellular physiology	3932	LCK	OMIM:615758
HP:0011017	Abnormal cellular physiology	987	LRBA	OMIM:614700
HP:0011017	Abnormal cellular physiology	5424	POLD1	OMIM:620836
HP:0011017	Abnormal cellular physiology	8085	KMT2D	ORPHA:2322
HP:0011017	Abnormal cellular physiology	8085	KMT2D	OMIM:147920
HP:0011017	Abnormal cellular physiology	7403	KDM6A	ORPHA:2322
HP:0011017	Abnormal cellular physiology	7403	KDM6A	OMIM:147920
HP:0011017	Abnormal cellular physiology	3543	IGLL1	OMIM:613500
HP:0011017	Abnormal cellular physiology	2314	FLII	ORPHA:819
HP:0011017	Abnormal cellular physiology	23096	IQSEC2	ORPHA:819
HP:0011017	Abnormal cellular physiology	10522	DEAF1	ORPHA:819
HP:0011017	Abnormal cellular physiology	29760	BLNK	OMIM:613502
HP:0011017	Abnormal cellular physiology	868	CBLB	OMIM:620430
HP:0011017	Abnormal cellular physiology	29927	SEC61A1	OMIM:620670
HP:0011017	Abnormal cellular physiology	7298	TYMS	OMIM:620040
HP:0011017	Abnormal cellular physiology	84876	ORAI1	OMIM:612782
HP:0011017	Abnormal cellular physiology	9020	MAP3K14	OMIM:620449
HP:0011017	Abnormal cellular physiology	6786	STIM1	OMIM:612783
HP:0011017	Abnormal cellular physiology	8792	TNFRSF11A	OMIM:612301
HP:0011017	Abnormal cellular physiology	3117	HLA-DQA1	OMIM:212750
HP:0011017	Abnormal cellular physiology	3119	HLA-DQB1	OMIM:212750
HP:0011017	Abnormal cellular physiology	10815	CPLX1	ORPHA:280
HP:0011017	Abnormal cellular physiology	54872	PIGG	ORPHA:280
HP:0011017	Abnormal cellular physiology	7469	NELFA	ORPHA:280
HP:0011017	Abnormal cellular physiology	1487	CTBP1	ORPHA:280
HP:0011017	Abnormal cellular physiology	3954	LETM1	ORPHA:280
HP:0011017	Abnormal cellular physiology	7468	NSD2	ORPHA:280
HP:0011017	Abnormal cellular physiology	2475	MTOR	ORPHA:457485
HP:0011017	Abnormal cellular physiology	2475	MTOR	OMIM:616638
HP:0011017	Abnormal cellular physiology	5373	PMM2	OMIM:212065
HP:0011017	Abnormal cellular physiology	10043	TOM1	OMIM:619510
HP:0011017	Abnormal cellular physiology	10526	IPO8	OMIM:619472
HP:0011017	Abnormal cellular physiology	51604	PIGT	ORPHA:369837
HP:0011017	Abnormal cellular physiology	54440	SASH3	OMIM:301082
HP:0011017	Abnormal cellular physiology	60468	BACH2	OMIM:618394
HP:0011017	Abnormal cellular physiology	83737	ITCH	OMIM:613385
HP:0011017	Abnormal cellular physiology	974	CD79B	OMIM:612692
HP:0011017	Abnormal cellular physiology	5336	PLCG2	OMIM:614878
HP:0011017	Abnormal cellular physiology	84905	ZNF341	OMIM:618282
HP:0011017	Abnormal cellular physiology	139818	DOCK11	OMIM:301109
HP:0011017	Abnormal cellular physiology	5557	PRIM1	OMIM:620005
HP:0011017	Abnormal cellular physiology	3501	IGHG2	ORPHA:183675
HP:0011017	Abnormal cellular physiology	6688	SPI1	OMIM:619707
HP:0011017	Abnormal cellular physiology	284119	CAVIN1	OMIM:613327
HP:0011017	Abnormal cellular physiology	6929	TCF3	OMIM:619824
HP:0011017	Abnormal cellular physiology	4893	NRAS	OMIM:614470
HP:0011017	Abnormal cellular physiology	3845	KRAS	OMIM:614470
HP:0011017	Abnormal cellular physiology	958	CD40	OMIM:606843
HP:0011017	Abnormal cellular physiology	959	CD40LG	OMIM:308230
HP:0011017	Abnormal cellular physiology	30011	SH3KBP1	OMIM:300310
HP:0011017	Abnormal cellular physiology	3570	IL6R	OMIM:618944
HP:0011017	Abnormal cellular physiology	28956	LAMTOR2	OMIM:610798
HP:0011017	Abnormal cellular physiology	23387	SIK3	OMIM:618162
HP:0011017	Abnormal cellular physiology	5426	POLE	OMIM:615139
HP:0011017	Abnormal cellular physiology	81704	DOCK8	OMIM:243700
HP:0011017	Abnormal cellular physiology	96459	FNIP1	OMIM:619705
HP:0011017	Abnormal cellular physiology	9138	ARHGEF1	OMIM:618459
HP:0011017	Abnormal cellular physiology	8883	NAE1	OMIM:620210
HP:0011017	Abnormal cellular physiology	140732	SUN5	ORPHA:529970
HP:0011017	Abnormal cellular physiology	83449	PMFBP1	ORPHA:529970
HP:0011017	Abnormal cellular physiology	4204	MECP2	ORPHA:1762
HP:0011017	Abnormal cellular physiology	6469	SHH	OMIM:147250
HP:0011017	Abnormal cellular physiology	3930	LBR	OMIM:169400
HP:0011017	Abnormal cellular physiology	2697	GJA1	ORPHA:2248
HP:0011017	Abnormal cellular physiology	1482	NKX2-5	ORPHA:2248
HP:0011017	Abnormal cellular physiology	10743	RAI1	ORPHA:1713
HP:0011017	Abnormal cellular physiology	1737	DLAT	OMIM:245348
HP:0011017	Abnormal cellular physiology	51218	GLRX5	ORPHA:401866
HP:0011017	Abnormal cellular physiology	51218	GLRX5	OMIM:616859
HP:0011017	Abnormal cellular physiology	8050	PDHX	OMIM:245349
HP:0011017	Abnormal cellular physiology	8050	PDHX	ORPHA:255182
HP:0011017	Abnormal cellular physiology	5162	PDHB	ORPHA:255138
HP:0011017	Abnormal cellular physiology	11019	LIAS	OMIM:614462
HP:0011017	Abnormal cellular physiology	1892	ECHS1	OMIM:616277
HP:0011017	Abnormal cellular physiology	5160	PDHA1	OMIM:312170
HP:0011017	Abnormal cellular physiology	388962	BOLA3	OMIM:614299
HP:0011017	Abnormal cellular physiology	54148	MRPL39	OMIM:620646
HP:0011017	Abnormal cellular physiology	64116	SLC39A8	ORPHA:468699
HP:0011017	Abnormal cellular physiology	54704	PDP1	OMIM:608782
HP:0011017	Abnormal cellular physiology	54704	PDP1	ORPHA:79246
HP:0011017	Abnormal cellular physiology	57379	AICDA	OMIM:605258
HP:0011017	Abnormal cellular physiology	7374	UNG	OMIM:608106
HP:0011017	Abnormal cellular physiology	7454	WAS	OMIM:301000
HP:0011017	Abnormal cellular physiology	57724	EPG5	OMIM:242840
HP:0011017	Abnormal cellular physiology	5873	RAB27A	OMIM:607624
HP:0011017	Abnormal cellular physiology	1643	DDB2	OMIM:278740
HP:0011017	Abnormal cellular physiology	2073	ERCC5	OMIM:278780
HP:0011017	Abnormal cellular physiology	404672	GTF2H5	ORPHA:33364
HP:0011017	Abnormal cellular physiology	833	CARS1	ORPHA:33364
HP:0011017	Abnormal cellular physiology	2068	ERCC2	ORPHA:33364
HP:0011017	Abnormal cellular physiology	2068	ERCC2	OMIM:278730
HP:0011017	Abnormal cellular physiology	7737	RNF113A	ORPHA:33364
HP:0011017	Abnormal cellular physiology	136647	MPLKIP	ORPHA:33364
HP:0011017	Abnormal cellular physiology	6897	TARS1	ORPHA:33364
HP:0011017	Abnormal cellular physiology	16	AARS1	ORPHA:33364
HP:0011017	Abnormal cellular physiology	2961	GTF2E2	ORPHA:33364
HP:0011017	Abnormal cellular physiology	7508	XPC	OMIM:278720
HP:0011017	Abnormal cellular physiology	7507	XPA	OMIM:278700
HP:0011017	Abnormal cellular physiology	6499	SKIC2	ORPHA:84064
HP:0011017	Abnormal cellular physiology	50615	IL21R	OMIM:615207
HP:0011017	Abnormal cellular physiology	3431	SP110	ORPHA:79124
HP:0011017	Abnormal cellular physiology	4982	TNFRSF11B	OMIM:239000
HP:0011017	Abnormal cellular physiology	4041	LRP5	OMIM:607634
HP:0011017	Abnormal cellular physiology	4952	OCRL	OMIM:309000
HP:0011017	Abnormal cellular physiology	760	CA2	OMIM:259730
HP:0011017	Abnormal cellular physiology	760	CA2	ORPHA:2785
HP:0011017	Abnormal cellular physiology	1186	CLCN7	OMIM:166600
HP:0011017	Abnormal cellular physiology	5660	PSAP	OMIM:610539
HP:0011017	Abnormal cellular physiology	2055	CLN8	ORPHA:1947
HP:0011017	Abnormal cellular physiology	1203	CLN5	OMIM:256731
HP:0011017	Abnormal cellular physiology	1201	CLN3	OMIM:204200
HP:0011017	Abnormal cellular physiology	54982	CLN6	OMIM:204300
HP:0011017	Abnormal cellular physiology	54982	CLN6	OMIM:601780
HP:0011017	Abnormal cellular physiology	1200	TPP1	OMIM:204500
HP:0011017	Abnormal cellular physiology	80331	DNAJC5	OMIM:162350
HP:0011017	Abnormal cellular physiology	154881	KCTD7	OMIM:611726
HP:0011017	Abnormal cellular physiology	64170	CARD9	OMIM:212050
HP:0011017	Abnormal cellular physiology	3071	NCKAP1L	OMIM:618982
HP:0011017	Abnormal cellular physiology	29775	CARD10	OMIM:619632
HP:0011017	Abnormal cellular physiology	1041	CDSN	ORPHA:90368
HP:0011017	Abnormal cellular physiology	1041	CDSN	OMIM:270300
HP:0011017	Abnormal cellular physiology	121391	KRT74	ORPHA:90368
HP:0011017	Abnormal cellular physiology	6777	STAT5B	OMIM:618985
HP:0011017	Abnormal cellular physiology	50943	FOXP3	OMIM:304790
HP:0011017	Abnormal cellular physiology	50943	FOXP3	ORPHA:37042
HP:0011017	Abnormal cellular physiology	3857	KRT9	OMIM:144200
HP:0011017	Abnormal cellular physiology	7297	TYK2	OMIM:611521
HP:0011017	Abnormal cellular physiology	51135	IRAK4	OMIM:607676
HP:0011017	Abnormal cellular physiology	2239	GPC4	ORPHA:373
HP:0011017	Abnormal cellular physiology	2719	GPC3	ORPHA:373
HP:0011017	Abnormal cellular physiology	1956	EGFR	OMIM:616069
HP:0011017	Abnormal cellular physiology	6868	ADAM17	OMIM:614328
HP:0011017	Abnormal cellular physiology	10092	ARPC5	OMIM:620565
HP:0011017	Abnormal cellular physiology	1828	DSG1	OMIM:615508
HP:0011017	Abnormal cellular physiology	6778	STAT6	OMIM:620532
HP:0011017	Abnormal cellular physiology	472	ATM	ORPHA:100
HP:0011017	Abnormal cellular physiology	6023	RMRP	ORPHA:175
HP:0011017	Abnormal cellular physiology	2189	FANCG	OMIM:614082
HP:0011017	Abnormal cellular physiology	2189	FANCG	ORPHA:84
HP:0011017	Abnormal cellular physiology	2187	FANCB	OMIM:300514
HP:0011017	Abnormal cellular physiology	2187	FANCB	ORPHA:84
HP:0011017	Abnormal cellular physiology	29128	UHRF1	ORPHA:2268
HP:0011017	Abnormal cellular physiology	3070	HELLS	ORPHA:2268
HP:0011017	Abnormal cellular physiology	1789	DNMT3B	ORPHA:2268
HP:0011017	Abnormal cellular physiology	83879	CDCA7	ORPHA:2268
HP:0011017	Abnormal cellular physiology	9841	ZBTB24	ORPHA:2268
HP:0011017	Abnormal cellular physiology	641	BLM	OMIM:210900
HP:0011017	Abnormal cellular physiology	7518	XRCC4	ORPHA:99812
HP:0011017	Abnormal cellular physiology	3981	LIG4	ORPHA:99812
HP:0011017	Abnormal cellular physiology	4683	NBN	ORPHA:647
HP:0011017	Abnormal cellular physiology	6948	TCN2	ORPHA:859
HP:0011017	Abnormal cellular physiology	672	BRCA1	ORPHA:84
HP:0011017	Abnormal cellular physiology	10459	MAD2L2	ORPHA:84
HP:0011017	Abnormal cellular physiology	7516	XRCC2	ORPHA:84
HP:0011017	Abnormal cellular physiology	29089	UBE2T	ORPHA:84
HP:0011017	Abnormal cellular physiology	675	BRCA2	ORPHA:84
HP:0011017	Abnormal cellular physiology	55120	FANCL	ORPHA:84
HP:0011017	Abnormal cellular physiology	2177	FANCD2	ORPHA:84
HP:0011017	Abnormal cellular physiology	2175	FANCA	ORPHA:84
HP:0011017	Abnormal cellular physiology	2176	FANCC	ORPHA:84
HP:0011017	Abnormal cellular physiology	2178	FANCE	ORPHA:84
HP:0011017	Abnormal cellular physiology	2188	FANCF	ORPHA:84
HP:0011017	Abnormal cellular physiology	5888	RAD51	ORPHA:84
HP:0011017	Abnormal cellular physiology	5889	RAD51C	ORPHA:84
HP:0011017	Abnormal cellular physiology	55159	RFWD3	ORPHA:84
HP:0011017	Abnormal cellular physiology	83990	BRIP1	ORPHA:84
HP:0011017	Abnormal cellular physiology	57697	FANCM	ORPHA:84
HP:0011017	Abnormal cellular physiology	79728	PALB2	ORPHA:84
HP:0011017	Abnormal cellular physiology	84464	SLX4	ORPHA:84
HP:0011017	Abnormal cellular physiology	2072	ERCC4	ORPHA:84
HP:0011017	Abnormal cellular physiology	55215	FANCI	ORPHA:84
HP:0011017	Abnormal cellular physiology	338657	CENATAC	OMIM:620153
HP:0011017	Abnormal cellular physiology	1327	COX4I1	OMIM:619060
HP:0011017	Abnormal cellular physiology	64858	DCLRE1B	OMIM:620133
HP:0011017	Abnormal cellular physiology	1161	ERCC8	OMIM:614621
HP:0011017	Abnormal cellular physiology	1161	ERCC8	OMIM:216400
HP:0011017	Abnormal cellular physiology	2074	ERCC6	OMIM:133540
HP:0011017	Abnormal cellular physiology	2074	ERCC6	OMIM:600630
HP:0011017	Abnormal cellular physiology	57654	UVSSA	OMIM:614640
HP:0011017	Abnormal cellular physiology	2071	ERCC3	OMIM:610651
HP:0011017	Abnormal cellular physiology	2395	FXN	OMIM:229300
HP:0011017	Abnormal cellular physiology	1738	DLD	ORPHA:2394
HP:0011017	Abnormal cellular physiology	3155	HMGCL	OMIM:246450
HP:0011017	Abnormal cellular physiology	4556	MT-TE	ORPHA:254864
HP:0011017	Abnormal cellular physiology	55687	TRMU	ORPHA:254864
HP:0011017	Abnormal cellular physiology	37	ACADVL	OMIM:201475
HP:0011017	Abnormal cellular physiology	4695	NDUFA2	OMIM:618235
HP:0011017	Abnormal cellular physiology	34	ACADM	OMIM:201450
HP:0011017	Abnormal cellular physiology	1294	COL7A1	ORPHA:89842
HP:0011017	Abnormal cellular physiology	27034	ACAD8	OMIM:611283
HP:0011017	Abnormal cellular physiology	27034	ACAD8	ORPHA:79159
HP:0011017	Abnormal cellular physiology	133686	NADK2	ORPHA:431361
HP:0011017	Abnormal cellular physiology	3033	HADH	ORPHA:71212
HP:0011017	Abnormal cellular physiology	28976	ACAD9	ORPHA:99901
HP:0011017	Abnormal cellular physiology	64087	MCCC2	OMIM:210210
HP:0011017	Abnormal cellular physiology	788	SLC25A20	ORPHA:159
HP:0011017	Abnormal cellular physiology	1962	EHHADH	ORPHA:3337
HP:0011017	Abnormal cellular physiology	2628	GATM	ORPHA:3337
HP:0011017	Abnormal cellular physiology	137682	NDUFAF6	ORPHA:3337
HP:0011017	Abnormal cellular physiology	6569	SLC34A1	ORPHA:3337
HP:0011017	Abnormal cellular physiology	6584	SLC22A5	OMIM:212140
HP:0011017	Abnormal cellular physiology	340061	STING1	OMIM:615934
HP:0011017	Abnormal cellular physiology	7174	TPP2	OMIM:619220
HP:0011017	Abnormal cellular physiology	22861	NLRP1	OMIM:617388
HP:0011017	Abnormal cellular physiology	3560	IL2RB	OMIM:618495
HP:0011017	Abnormal cellular physiology	3459	IFNGR1	OMIM:209950
HP:0011017	Abnormal cellular physiology	90268	OTULIN	OMIM:617099
HP:0011017	Abnormal cellular physiology	4598	MVK	OMIM:260920
HP:0011017	Abnormal cellular physiology	4598	MVK	ORPHA:343
HP:0011017	Abnormal cellular physiology	3659	IRF1	OMIM:620668
HP:0011017	Abnormal cellular physiology	3594	IL12RB1	ORPHA:186
HP:0011017	Abnormal cellular physiology	23534	TNPO3	ORPHA:186
HP:0011017	Abnormal cellular physiology	3592	IL12A	ORPHA:186
HP:0011017	Abnormal cellular physiology	6689	SPIB	ORPHA:186
HP:0011017	Abnormal cellular physiology	5450	POU2AF1	ORPHA:186
HP:0011017	Abnormal cellular physiology	9966	TNFSF15	ORPHA:186
HP:0011017	Abnormal cellular physiology	79258	MMEL1	ORPHA:186
HP:0011017	Abnormal cellular physiology	3663	IRF5	ORPHA:186
HP:0011017	Abnormal cellular physiology	79158	GNPTAB	OMIM:252600
HP:0011017	Abnormal cellular physiology	79158	GNPTAB	OMIM:252500
HP:0011017	Abnormal cellular physiology	1786	DNMT1	ORPHA:314404
HP:0011017	Abnormal cellular physiology	26275	HIBCH	ORPHA:88639
HP:0011017	Abnormal cellular physiology	204	AK2	ORPHA:33355
HP:0011017	Abnormal cellular physiology	3028	HSD17B10	ORPHA:391428
HP:0011017	Abnormal cellular physiology	10483	SEC23B	OMIM:224100
HP:0011017	Abnormal cellular physiology	146059	CDAN1	OMIM:224120
HP:0011017	Abnormal cellular physiology	1497	CTNS	OMIM:219800
HP:0011017	Abnormal cellular physiology	1497	CTNS	OMIM:219900
HP:0011017	Abnormal cellular physiology	79648	MCPH1	OMIM:251200
HP:0011017	Abnormal cellular physiology	2859	GPR35	ORPHA:171
HP:0011017	Abnormal cellular physiology	10507	SEMA4D	ORPHA:171
HP:0011017	Abnormal cellular physiology	4485	MST1	ORPHA:171
HP:0011017	Abnormal cellular physiology	6925	TCF4	ORPHA:171
HP:0011017	Abnormal cellular physiology	4615	MYD88	OMIM:153600
HP:0011017	Abnormal cellular physiology	200942	KLHDC8B	OMIM:236000
HP:0011017	Abnormal cellular physiology	1536	CYBB	OMIM:306400
HP:0011017	Abnormal cellular physiology	1535	CYBA	OMIM:233690
HP:0011017	Abnormal cellular physiology	2332	FMR1	ORPHA:908
HP:0011017	Abnormal cellular physiology	2332	FMR1	OMIM:300624
HP:0011017	Abnormal cellular physiology	84548	TMEM185A	ORPHA:100974
HP:0011017	Abnormal cellular physiology	6005	RHAG	OMIM:185000
HP:0011017	Abnormal cellular physiology	6513	SLC2A1	ORPHA:168577
HP:0011017	Abnormal cellular physiology	157570	ESCO2	OMIM:268300
HP:0011017	Abnormal cellular physiology	2110	ETFDH	OMIM:231680
HP:0011017	Abnormal cellular physiology	2108	ETFA	OMIM:231680
HP:0011017	Abnormal cellular physiology	2109	ETFB	OMIM:231680
HP:0011017	Abnormal cellular physiology	138050	HGSNAT	OMIM:252930
HP:0011017	Abnormal cellular physiology	2799	GNS	OMIM:252940
HP:0011017	Abnormal cellular physiology	6240	RRM1	OMIM:620647
HP:0011017	Abnormal cellular physiology	10159	ATP6AP2	OMIM:301045
HP:0011017	Abnormal cellular physiology	83483	PLVAP	OMIM:618183
HP:0011017	Abnormal cellular physiology	51750	RTEL1	OMIM:615190
HP:0011017	Abnormal cellular physiology	4791	NFKB2	ORPHA:293978
HP:0011017	Abnormal cellular physiology	4791	NFKB2	ORPHA:1572
HP:0011017	Abnormal cellular physiology	5728	PTEN	OMIM:605309
HP:0011017	Abnormal cellular physiology	5728	PTEN	OMIM:158350
HP:0011017	Abnormal cellular physiology	5728	PTEN	ORPHA:397596
HP:0011017	Abnormal cellular physiology	23308	ICOSLG	OMIM:620825
HP:0011017	Abnormal cellular physiology	10309	CCNO	OMIM:615872
HP:0011017	Abnormal cellular physiology	100151683	RNU4ATAC	ORPHA:353298
HP:0011017	Abnormal cellular physiology	8737	RIPK1	OMIM:618108
HP:0011017	Abnormal cellular physiology	113235	SLC46A1	ORPHA:90045
HP:0011017	Abnormal cellular physiology	2316	FLNA	ORPHA:99811
HP:0011017	Abnormal cellular physiology	4522	MTHFD1	OMIM:617780
HP:0011017	Abnormal cellular physiology	10525	HYOU1	OMIM:233600
HP:0011017	Abnormal cellular physiology	4790	NFKB1	OMIM:616576
HP:0011017	Abnormal cellular physiology	4790	NFKB1	ORPHA:1572
HP:0011017	Abnormal cellular physiology	114803	MYSM1	OMIM:618116
HP:0011017	Abnormal cellular physiology	56259	CTNNBL1	OMIM:619846
HP:0011017	Abnormal cellular physiology	79840	NHEJ1	ORPHA:169079
HP:0011017	Abnormal cellular physiology	7037	TFRC	OMIM:616740
HP:0011017	Abnormal cellular physiology	537	ATP6AP1	OMIM:300972
HP:0011017	Abnormal cellular physiology	4125	MAN2B1	OMIM:248500
HP:0011017	Abnormal cellular physiology	7852	CXCR4	OMIM:193670
HP:0011017	Abnormal cellular physiology	7852	CXCR4	ORPHA:51636
HP:0011017	Abnormal cellular physiology	7841	MOGS	OMIM:606056
HP:0011017	Abnormal cellular physiology	7841	MOGS	ORPHA:79330
HP:0011017	Abnormal cellular physiology	7555	CNBP	ORPHA:606
HP:0011017	Abnormal cellular physiology	9839	ZEB2	ORPHA:261552
HP:0011017	Abnormal cellular physiology	9839	ZEB2	ORPHA:261537
HP:0011017	Abnormal cellular physiology	4478	MSN	OMIM:300988
HP:0011017	Abnormal cellular physiology	146206	CARMIL2	OMIM:618131
HP:0011017	Abnormal cellular physiology	10320	IKZF1	OMIM:616873
HP:0011017	Abnormal cellular physiology	8742	TNFSF12	ORPHA:1572
HP:0011017	Abnormal cellular physiology	931	MS4A1	ORPHA:1572
HP:0011017	Abnormal cellular physiology	975	CD81	ORPHA:1572
HP:0011017	Abnormal cellular physiology	970	CD70	OMIM:618261
HP:0011017	Abnormal cellular physiology	57217	TTC7A	OMIM:243150
HP:0011017	Abnormal cellular physiology	595	CCND1	ORPHA:29073
HP:0011017	Abnormal cellular physiology	51095	TRNT1	OMIM:616084
HP:0011017	Abnormal cellular physiology	3702	ITK	OMIM:613011
HP:0011017	Abnormal cellular physiology	3572	IL6ST	OMIM:619750
HP:0011017	Abnormal cellular physiology	6774	STAT3	OMIM:615952
HP:0011017	Abnormal cellular physiology	9508	ADAMTS3	ORPHA:2136
HP:0011017	Abnormal cellular physiology	147372	CCBE1	ORPHA:2136
HP:0011017	Abnormal cellular physiology	79633	FAT4	ORPHA:2136
HP:0011017	Abnormal cellular physiology	4796	TONSL	ORPHA:93357
HP:0011017	Abnormal cellular physiology	3507	IGHM	OMIM:601495
HP:0011017	Abnormal cellular physiology	1457	CSNK2A1	OMIM:617062
HP:0011017	Abnormal cellular physiology	493856	CISD2	OMIM:604928
HP:0011017	Abnormal cellular physiology	8915	BCL10	OMIM:616098
HP:0011017	Abnormal cellular physiology	5295	PIK3R1	ORPHA:397596
HP:0011017	Abnormal cellular physiology	5788	PTPRC	OMIM:619924
HP:0011017	Abnormal cellular physiology	4780	NFE2L2	OMIM:617744
HP:0011017	Abnormal cellular physiology	51816	ADA2	OMIM:615688
HP:0011017	Abnormal cellular physiology	6117	RPA1	OMIM:619767
HP:0011017	Abnormal cellular physiology	10165	SLC25A13	ORPHA:247598
HP:0011017	Abnormal cellular physiology	5294	PIK3CG	OMIM:619802
HP:0011017	Abnormal cellular physiology	4938	OAS1	OMIM:618042
HP:0011017	Abnormal cellular physiology	7157	TP53	OMIM:618165
HP:0011017	Abnormal cellular physiology	9652	SKIC3	OMIM:222470
HP:0011017	Abnormal cellular physiology	10625	IVNS1ABP	OMIM:618969
HP:0011017	Abnormal cellular physiology	9939	RBM8A	OMIM:274000
HP:0011017	Abnormal cellular physiology	1604	CD55	OMIM:226300
HP:0011017	Abnormal cellular physiology	28985	MCTS1	OMIM:301115
HP:0011017	Abnormal cellular physiology	3852	KRT5	ORPHA:79396
HP:0011017	Abnormal cellular physiology	3861	KRT14	ORPHA:79396
HP:0011017	Abnormal cellular physiology	219285	SAMD9L	ORPHA:2585
HP:0011017	Abnormal cellular physiology	11005	SPINK5	ORPHA:634
HP:0011017	Abnormal cellular physiology	59067	IL21	OMIM:615767
HP:0011017	Abnormal cellular physiology	5698	PSMB9	OMIM:620796
HP:0011017	Abnormal cellular physiology	65082	VPS33A	ORPHA:505248
HP:0011017	Abnormal cellular physiology	6573	SLC19A1	OMIM:620603
HP:0011017	Abnormal cellular physiology	374354	NHLRC2	OMIM:618278
HP:0011017	Abnormal cellular physiology	6651	SON	ORPHA:500150
HP:0011017	Abnormal cellular physiology	51311	TLR8	OMIM:301078
HP:0011017	Abnormal cellular physiology	8884	SLC5A6	OMIM:618973
HP:0011017	Abnormal cellular physiology	84888	SPPL2A	OMIM:619549
HP:0011017	Abnormal cellular physiology	7922	SLC39A7	OMIM:619693
HP:0011017	Abnormal cellular physiology	7922	SLC39A7	ORPHA:33110
HP:0011017	Abnormal cellular physiology	1678	TIMM8A	ORPHA:52368
HP:0011017	Abnormal cellular physiology	973	CD79A	OMIM:613501
HP:0011017	Abnormal cellular physiology	973	CD79A	ORPHA:33110
HP:0011017	Abnormal cellular physiology	56262	LRRC8A	OMIM:613506
HP:0011017	Abnormal cellular physiology	56262	LRRC8A	ORPHA:33110
HP:0011017	Abnormal cellular physiology	100	ADA	ORPHA:277
HP:0011017	Abnormal cellular physiology	359948	IRF2BP2	OMIM:617765
HP:0011017	Abnormal cellular physiology	4860	PNP	OMIM:613179
HP:0011017	Abnormal cellular physiology	3718	JAK3	OMIM:600802
HP:0011017	Abnormal cellular physiology	841	CASP8	OMIM:607271
HP:0011017	Abnormal cellular physiology	3953	LEPR	ORPHA:179494
HP:0011017	Abnormal cellular physiology	3952	LEP	ORPHA:66628
HP:0011017	Abnormal cellular physiology	84061	MAGT1	OMIM:300853
HP:0011017	Abnormal cellular physiology	7372	UMPS	ORPHA:30
HP:0011017	Abnormal cellular physiology	7372	UMPS	OMIM:258900
HP:0011017	Abnormal cellular physiology	6899	TBX1	OMIM:188400
HP:0011017	Abnormal cellular physiology	6899	TBX1	OMIM:192430
HP:0011017	Abnormal cellular physiology	6899	TBX1	ORPHA:567
HP:0011017	Abnormal cellular physiology	115650	TNFRSF13C	OMIM:240500
HP:0011017	Abnormal cellular physiology	29851	ICOS	OMIM:240500
HP:0011017	Abnormal cellular physiology	29851	ICOS	OMIM:607594
HP:0011017	Abnormal cellular physiology	930	CD19	OMIM:240500
HP:0011017	Abnormal cellular physiology	23495	TNFRSF13B	OMIM:240500
HP:0011017	Abnormal cellular physiology	1380	CR2	OMIM:240500
HP:0011017	Abnormal cellular physiology	55630	SLC39A4	OMIM:201100
HP:0011017	Abnormal cellular physiology	57511	COG6	OMIM:614576
HP:0011017	Abnormal cellular physiology	54487	DGCR8	OMIM:192430
HP:0011017	Abnormal cellular physiology	8214	DGCR6	OMIM:192430
HP:0011017	Abnormal cellular physiology	8220	ESS2	OMIM:192430
HP:0011017	Abnormal cellular physiology	9993	DGCR2	OMIM:192430
HP:0011017	Abnormal cellular physiology	1312	COMT	ORPHA:567
HP:0011017	Abnormal cellular physiology	221037	JMJD1C	ORPHA:567
HP:0011017	Abnormal cellular physiology	2812	GP1BB	ORPHA:567
HP:0011017	Abnormal cellular physiology	6239	RREB1	ORPHA:567
HP:0011017	Abnormal cellular physiology	7290	HIRA	ORPHA:567
HP:0011017	Abnormal cellular physiology	9632	SEC24C	ORPHA:567
HP:0011017	Abnormal cellular physiology	7353	UFD1	ORPHA:567
HP:0011017	Abnormal cellular physiology	421	ARVCF	ORPHA:567
HP:0011017	Abnormal cellular physiology	1716	DGUOK	OMIM:251880
HP:0011017	Abnormal cellular physiology	10397	NDRG1	OMIM:601455
HP:0011017	Abnormal cellular physiology	23479	ISCU	OMIM:255125
HP:0011017	Abnormal cellular physiology	200205	IBA57	ORPHA:468661
HP:0011017	Abnormal cellular physiology	200205	IBA57	OMIM:615330
HP:0011017	Abnormal cellular physiology	112812	FDX2	OMIM:251900
HP:0011017	Abnormal cellular physiology	6390	SDHB	OMIM:619224
HP:0011017	Abnormal cellular physiology	51102	MECR	ORPHA:508093
HP:0011017	Abnormal cellular physiology	51117	COQ4	OMIM:616276
HP:0011017	Abnormal cellular physiology	9054	NFS1	OMIM:619386
HP:0011017	Abnormal cellular physiology	6392	SDHD	OMIM:619167
HP:0011017	Abnormal cellular physiology	125170	MIEF2	OMIM:619024
HP:0011017	Abnormal cellular physiology	54931	TRMT10C	OMIM:616974
HP:0011017	Abnormal cellular physiology	84300	UQCC2	OMIM:615824
HP:0011017	Abnormal cellular physiology	1376	CPT2	OMIM:608836
HP:0011017	Abnormal cellular physiology	1376	CPT2	ORPHA:228305
HP:0011017	Abnormal cellular physiology	1376	CPT2	ORPHA:228308
HP:0011017	Abnormal cellular physiology	6341	SCO1	OMIM:619048
HP:0011017	Abnormal cellular physiology	4568	MT-TL2	ORPHA:663
HP:0011017	Abnormal cellular physiology	4567	MT-TL1	ORPHA:663
HP:0011017	Abnormal cellular physiology	4567	MT-TL1	ORPHA:550
HP:0011017	Abnormal cellular physiology	4570	MT-TN	ORPHA:663
HP:0011017	Abnormal cellular physiology	4574	MT-TS1	ORPHA:663
HP:0011017	Abnormal cellular physiology	4574	MT-TS1	ORPHA:550
HP:0011017	Abnormal cellular physiology	4558	MT-TF	ORPHA:550
HP:0011017	Abnormal cellular physiology	4572	MT-TQ	ORPHA:550
HP:0011017	Abnormal cellular physiology	4512	MT-CO1	ORPHA:550
HP:0011017	Abnormal cellular physiology	4513	MT-CO2	ORPHA:550
HP:0011017	Abnormal cellular physiology	4514	MT-CO3	ORPHA:550
HP:0011017	Abnormal cellular physiology	4578	MT-TW	ORPHA:550
HP:0011017	Abnormal cellular physiology	4540	MT-ND5	ORPHA:550
HP:0011017	Abnormal cellular physiology	4541	MT-ND6	ORPHA:550
HP:0011017	Abnormal cellular physiology	4535	MT-ND1	ORPHA:550
HP:0011017	Abnormal cellular physiology	4535	MT-ND1	ORPHA:2609
HP:0011017	Abnormal cellular physiology	4538	MT-ND4	ORPHA:550
HP:0011017	Abnormal cellular physiology	4575	MT-TS2	ORPHA:550
HP:0011017	Abnormal cellular physiology	4564	MT-TH	ORPHA:550
HP:0011017	Abnormal cellular physiology	54539	NDUFB11	ORPHA:2609
HP:0011017	Abnormal cellular physiology	25915	NDUFAF3	ORPHA:2609
HP:0011017	Abnormal cellular physiology	51103	NDUFAF1	ORPHA:2609
HP:0011017	Abnormal cellular physiology	91942	NDUFAF2	ORPHA:2609
HP:0011017	Abnormal cellular physiology	51300	TIMMDC1	ORPHA:2609
HP:0011017	Abnormal cellular physiology	4716	NDUFB10	ORPHA:2609
HP:0011017	Abnormal cellular physiology	4723	NDUFV1	ORPHA:2609
HP:0011017	Abnormal cellular physiology	55572	FOXRED1	ORPHA:2609
HP:0011017	Abnormal cellular physiology	284184	NDUFAF8	ORPHA:2609
HP:0011017	Abnormal cellular physiology	55863	TMEM126B	ORPHA:2609
HP:0011017	Abnormal cellular physiology	4537	MT-ND3	ORPHA:2609
HP:0011017	Abnormal cellular physiology	4729	NDUFV2	ORPHA:2609
HP:0011017	Abnormal cellular physiology	4694	NDUFA1	ORPHA:2609
HP:0011017	Abnormal cellular physiology	4720	NDUFS2	ORPHA:2609
HP:0011017	Abnormal cellular physiology	4724	NDUFS4	ORPHA:2609
HP:0011017	Abnormal cellular physiology	4726	NDUFS6	ORPHA:2609
HP:0011017	Abnormal cellular physiology	4728	NDUFS8	ORPHA:2609
HP:0011017	Abnormal cellular physiology	4722	NDUFS3	ORPHA:2609
HP:0011017	Abnormal cellular physiology	79133	NDUFAF5	ORPHA:2609
HP:0011017	Abnormal cellular physiology	126328	NDUFA11	ORPHA:2609
HP:0011017	Abnormal cellular physiology	4709	NDUFB3	ORPHA:2609
HP:0011017	Abnormal cellular physiology	80224	NUBPL	ORPHA:2609
HP:0011017	Abnormal cellular physiology	29078	NDUFAF4	ORPHA:2609
HP:0011017	Abnormal cellular physiology	374291	NDUFS7	ORPHA:2609
HP:0011017	Abnormal cellular physiology	4700	NDUFA6	ORPHA:2609
HP:0011017	Abnormal cellular physiology	4536	MT-ND2	ORPHA:2609
HP:0011017	Abnormal cellular physiology	4719	NDUFS1	ORPHA:2609
HP:0011017	Abnormal cellular physiology	4715	NDUFB9	ORPHA:2609
HP:0011017	Abnormal cellular physiology	4508	MT-ATP6	ORPHA:644
HP:0011017	Abnormal cellular physiology	10939	AFG3L2	ORPHA:313772
HP:0011017	Abnormal cellular physiology	6389	SDHA	OMIM:252011
HP:0011017	Abnormal cellular physiology	4625	MYH7	ORPHA:59135
HP:0011017	Abnormal cellular physiology	6687	SPG7	ORPHA:99013
HP:0011017	Abnormal cellular physiology	6901	TAFAZZIN	ORPHA:111
HP:0011017	Abnormal cellular physiology	6901	TAFAZZIN	OMIM:302060
HP:0011017	Abnormal cellular physiology	63931	MRPS14	OMIM:618378
HP:0011017	Abnormal cellular physiology	2521	FUS	ORPHA:275872
HP:0011017	Abnormal cellular physiology	8878	SQSTM1	ORPHA:275872
HP:0011017	Abnormal cellular physiology	7415	VCP	ORPHA:275872
HP:0011017	Abnormal cellular physiology	23435	TARDBP	ORPHA:275872
HP:0011017	Abnormal cellular physiology	29110	TBK1	ORPHA:275872
HP:0011017	Abnormal cellular physiology	400916	CHCHD10	ORPHA:275872
HP:0011017	Abnormal cellular physiology	10128	LRPPRC	OMIM:220111
HP:0011017	Abnormal cellular physiology	10128	LRPPRC	ORPHA:70472
HP:0011017	Abnormal cellular physiology	9997	SCO2	OMIM:604377
HP:0011017	Abnormal cellular physiology	51241	COX16	OMIM:619355
HP:0011017	Abnormal cellular physiology	80308	FLAD1	OMIM:255100
HP:0011017	Abnormal cellular physiology	85476	GFM1	OMIM:609060
HP:0011017	Abnormal cellular physiology	123263	MTFMT	OMIM:614947
HP:0011017	Abnormal cellular physiology	10102	TSFM	OMIM:610505
HP:0011017	Abnormal cellular physiology	57176	VARS2	OMIM:615917
HP:0011017	Abnormal cellular physiology	56945	MRPS22	OMIM:611719
HP:0011017	Abnormal cellular physiology	6182	MRPL12	OMIM:618951
HP:0011017	Abnormal cellular physiology	79587	CARS2	ORPHA:477774
HP:0011017	Abnormal cellular physiology	79587	CARS2	OMIM:616672
HP:0011017	Abnormal cellular physiology	84340	GFM2	OMIM:618397
HP:0011017	Abnormal cellular physiology	55278	QRSL1	OMIM:618835
HP:0011017	Abnormal cellular physiology	57570	TRMT5	OMIM:616539
HP:0011017	Abnormal cellular physiology	51649	MRPS23	OMIM:618952
HP:0011017	Abnormal cellular physiology	57038	RARS2	OMIM:611523
HP:0011017	Abnormal cellular physiology	283459	GATC	OMIM:618839
HP:0011017	Abnormal cellular physiology	28958	COA3	OMIM:619058
HP:0011017	Abnormal cellular physiology	54802	TRIT1	OMIM:617873
HP:0011017	Abnormal cellular physiology	116228	COX20	OMIM:619054
HP:0011017	Abnormal cellular physiology	100131801	PET100	OMIM:619055
HP:0011017	Abnormal cellular physiology	63899	NSUN3	OMIM:619012
HP:0011017	Abnormal cellular physiology	388753	COA6	OMIM:616501
HP:0011017	Abnormal cellular physiology	493753	COA5	OMIM:616500
HP:0011017	Abnormal cellular physiology	29960	MRM2	OMIM:618567
HP:0011017	Abnormal cellular physiology	708	C1QBP	OMIM:617713
HP:0011017	Abnormal cellular physiology	91574	MTRFR	OMIM:613559
HP:0011017	Abnormal cellular physiology	124454	EARS2	OMIM:614924
HP:0011017	Abnormal cellular physiology	54675	CRLS1	OMIM:620167
HP:0011017	Abnormal cellular physiology	84334	COA8	OMIM:619061
HP:0011017	Abnormal cellular physiology	1339	COX6A2	OMIM:619062
HP:0011017	Abnormal cellular physiology	80324	PUS1	OMIM:600462
HP:0011017	Abnormal cellular physiology	9377	COX5A	OMIM:619064
HP:0011017	Abnormal cellular physiology	64432	MRPS25	OMIM:619025
HP:0011017	Abnormal cellular physiology	57505	AARS2	OMIM:614096
HP:0011017	Abnormal cellular physiology	29928	TIMM22	OMIM:618851
HP:0011017	Abnormal cellular physiology	4697	NDUFA4	OMIM:619065
HP:0011017	Abnormal cellular physiology	115286	SLC25A26	OMIM:616794
HP:0011017	Abnormal cellular physiology	51067	YARS2	OMIM:613561
HP:0011017	Abnormal cellular physiology	84705	GTPBP3	OMIM:616198
HP:0011017	Abnormal cellular physiology	84705	GTPBP3	ORPHA:444013
HP:0011017	Abnormal cellular physiology	9131	AIFM1	OMIM:300816
HP:0011017	Abnormal cellular physiology	132001	TAMM41	OMIM:620139
HP:0011017	Abnormal cellular physiology	51021	MRPS16	OMIM:610498
HP:0011017	Abnormal cellular physiology	79731	NARS2	OMIM:616239
HP:0011017	Abnormal cellular physiology	79736	TEFM	OMIM:620451
HP:0011017	Abnormal cellular physiology	27247	NFU1	OMIM:605711
HP:0011017	Abnormal cellular physiology	3735	KARS1	OMIM:619147
HP:0011017	Abnormal cellular physiology	8803	SUCLA2	OMIM:612073
HP:0011017	Abnormal cellular physiology	2671	GFER	OMIM:613076
HP:0011017	Abnormal cellular physiology	1468	SLC25A10	OMIM:618972
HP:0011017	Abnormal cellular physiology	7084	TK2	OMIM:617069
HP:0011017	Abnormal cellular physiology	7084	TK2	OMIM:609560
HP:0011017	Abnormal cellular physiology	498	ATP5F1A	OMIM:616045
HP:0011017	Abnormal cellular physiology	7019	TFAM	OMIM:617156
HP:0011017	Abnormal cellular physiology	4976	OPA1	OMIM:616896
HP:0011017	Abnormal cellular physiology	55750	AGK	OMIM:212350
HP:0011017	Abnormal cellular physiology	9056	SLC7A7	ORPHA:470
HP:0011017	Abnormal cellular physiology	1493	CTLA4	ORPHA:3162
HP:0011017	Abnormal cellular physiology	940	CD28	ORPHA:3162
HP:0011017	Abnormal cellular physiology	7133	TNFRSF1B	ORPHA:3162
HP:0011017	Abnormal cellular physiology	8517	IKBKG	ORPHA:98813
HP:0011017	Abnormal cellular physiology	4792	NFKBIA	ORPHA:98813
HP:0011017	Abnormal cellular physiology	6729	SRP54	OMIM:618752
HP:0011017	Abnormal cellular physiology	213	ALB	ORPHA:86816
HP:0011017	Abnormal cellular physiology	727897	MUC5B	OMIM:178500
HP:0011017	Abnormal cellular physiology	6440	SFTPC	OMIM:178500
HP:0011017	Abnormal cellular physiology	729238	SFTPA2	OMIM:178500
HP:0011017	Abnormal cellular physiology	11311	VPS45	OMIM:615285
HP:0011017	Abnormal cellular physiology	5184	PEPD	OMIM:170100
HP:0011017	Abnormal cellular physiology	1277	COL1A1	ORPHA:1310
HP:0011017	Abnormal cellular physiology	64135	IFIH1	OMIM:615846
HP:0011017	Abnormal cellular physiology	5692	PSMB4	OMIM:617591
HP:0011017	Abnormal cellular physiology	4733	DRG1	OMIM:620641
HP:0011017	Abnormal cellular physiology	2629	GBA1	ORPHA:77261
HP:0011017	Abnormal cellular physiology	2629	GBA1	ORPHA:77259
HP:0011017	Abnormal cellular physiology	9051	PSTPIP1	ORPHA:69126
HP:0011017	Abnormal cellular physiology	23064	SETX	OMIM:606002
HP:0011017	Abnormal cellular physiology	5696	PSMB8	OMIM:256040
HP:0011017	Abnormal cellular physiology	1991	ELANE	OMIM:202700
HP:0011017	Abnormal cellular physiology	950	SCARB2	ORPHA:77259
HP:0011017	Abnormal cellular physiology	10111	RAD50	OMIM:613078
HP:0011017	Abnormal cellular physiology	7156	TOP3A	OMIM:618097
HP:0011017	Abnormal cellular physiology	57192	MCOLN1	ORPHA:578
HP:0011017	Abnormal cellular physiology	57192	MCOLN1	OMIM:252650
HP:0011017	Abnormal cellular physiology	5286	PIK3C2A	ORPHA:557003
HP:0011017	Abnormal cellular physiology	8314	BAP1	ORPHA:2495
HP:0011017	Abnormal cellular physiology	4771	NF2	ORPHA:2495
HP:0011017	Abnormal cellular physiology	6598	SMARCB1	ORPHA:2495
HP:0011017	Abnormal cellular physiology	5155	PDGFB	ORPHA:2495
HP:0011017	Abnormal cellular physiology	84231	TRAF7	ORPHA:2495
HP:0011017	Abnormal cellular physiology	6608	SMO	ORPHA:2495
HP:0011017	Abnormal cellular physiology	207	AKT1	ORPHA:2495
HP:0011017	Abnormal cellular physiology	5290	PIK3CA	ORPHA:2495
HP:0011017	Abnormal cellular physiology	7015	TERT	ORPHA:2495
HP:0011017	Abnormal cellular physiology	51684	SUFU	ORPHA:2495
HP:0011017	Abnormal cellular physiology	6605	SMARCE1	ORPHA:2495
HP:0011017	Abnormal cellular physiology	165918	RNF168	OMIM:611943
HP:0011017	Abnormal cellular physiology	56160	NSMCE3	OMIM:617241
HP:0011017	Abnormal cellular physiology	4361	MRE11	OMIM:604391
HP:0011017	Abnormal cellular physiology	2625	GATA3	ORPHA:2237
HP:0011017	Abnormal cellular physiology	3123	HLA-DRB1	OMIM:181000
HP:0011017	Abnormal cellular physiology	9200	HACD1	OMIM:619967
HP:0011017	Abnormal cellular physiology	128240	NAXE	OMIM:617186
HP:0011017	Abnormal cellular physiology	1020	CDK5	OMIM:616342
HP:0011017	Abnormal cellular physiology	4702	NDUFA8	OMIM:619272
HP:0011017	Abnormal cellular physiology	4718	NDUFC2	OMIM:619170
HP:0011017	Abnormal cellular physiology	55967	NDUFA12	OMIM:618244
HP:0011017	Abnormal cellular physiology	4704	NDUFA9	OMIM:618247
HP:0011017	Abnormal cellular physiology	55037	PTCD3	OMIM:619057
HP:0011017	Abnormal cellular physiology	4705	NDUFA10	OMIM:618243
HP:0011017	Abnormal cellular physiology	51079	NDUFA13	OMIM:618249
HP:0011017	Abnormal cellular physiology	4714	NDUFB8	OMIM:618252
HP:0011017	Abnormal cellular physiology	122961	ISCA2	OMIM:616370
HP:0011017	Abnormal cellular physiology	25828	TXN2	ORPHA:478029
HP:0011017	Abnormal cellular physiology	25828	TXN2	OMIM:616811
HP:0011017	Abnormal cellular physiology	60528	ELAC2	OMIM:615440
HP:0011017	Abnormal cellular physiology	6329	SCN4A	OMIM:620351
HP:0011017	Abnormal cellular physiology	4713	NDUFB7	OMIM:620135
HP:0011017	Abnormal cellular physiology	27089	UQCRQ	OMIM:615159
HP:0011017	Abnormal cellular physiology	54902	TTC19	OMIM:615157
HP:0011017	Abnormal cellular physiology	7381	UQCRB	OMIM:615158
HP:0011017	Abnormal cellular physiology	25821	MTO1	OMIM:614702
HP:0011017	Abnormal cellular physiology	90624	LYRM7	OMIM:615838
HP:0011017	Abnormal cellular physiology	617	BCS1L	OMIM:124000
HP:0011017	Abnormal cellular physiology	1537	CYC1	OMIM:615453
HP:0011017	Abnormal cellular physiology	790955	UQCC3	OMIM:616111
HP:0011017	Abnormal cellular physiology	7388	UQCRH	OMIM:620137
HP:0011017	Abnormal cellular physiology	54968	TMEM70	OMIM:614052
HP:0011017	Abnormal cellular physiology	513	ATP5F1D	OMIM:618120
HP:0011017	Abnormal cellular physiology	514	ATP5F1E	OMIM:614053
HP:0011017	Abnormal cellular physiology	92609	TIMM50	ORPHA:505216
HP:0011017	Abnormal cellular physiology	91647	ATPAF2	OMIM:604273
HP:0011017	Abnormal cellular physiology	4312	MMP1	ORPHA:79408
HP:0011017	Abnormal cellular physiology	56947	MFF	ORPHA:485421
HP:0011017	Abnormal cellular physiology	8802	SUCLG1	ORPHA:17
HP:0011017	Abnormal cellular physiology	2232	FDXR	ORPHA:543470
HP:0011017	Abnormal cellular physiology	5428	POLG	ORPHA:298
HP:0011017	Abnormal cellular physiology	5428	POLG	ORPHA:254892
HP:0011017	Abnormal cellular physiology	1890	TYMP	ORPHA:298
HP:0011017	Abnormal cellular physiology	3980	LIG3	ORPHA:298
HP:0011017	Abnormal cellular physiology	50484	RRM2B	ORPHA:298
HP:0011017	Abnormal cellular physiology	50484	RRM2B	ORPHA:254892
HP:0011017	Abnormal cellular physiology	291	SLC25A4	ORPHA:254892
HP:0011017	Abnormal cellular physiology	56652	TWNK	ORPHA:254892
HP:0011017	Abnormal cellular physiology	11232	POLG2	ORPHA:254892
HP:0011017	Abnormal cellular physiology	10059	DNM1L	ORPHA:330050
HP:0011017	Abnormal cellular physiology	5250	SLC25A3	ORPHA:91130
HP:0011017	Abnormal cellular physiology	10020	GNE	ORPHA:3166
HP:0011017	Abnormal cellular physiology	5830	PEX5	OMIM:214110
HP:0011017	Abnormal cellular physiology	5277	PIGA	OMIM:300868
HP:0011017	Abnormal cellular physiology	6813	STXBP2	OMIM:613101
HP:0011017	Abnormal cellular physiology	5551	PRF1	ORPHA:540
HP:0011017	Abnormal cellular physiology	5551	PRF1	OMIM:603553
HP:0011017	Abnormal cellular physiology	8676	STX11	ORPHA:540
HP:0011017	Abnormal cellular physiology	201294	UNC13D	ORPHA:540
HP:0011017	Abnormal cellular physiology	201294	UNC13D	OMIM:608898
HP:0011017	Abnormal cellular physiology	58484	NLRC4	OMIM:616050
HP:0011017	Abnormal cellular physiology	7456	WIPF1	OMIM:614493
HP:0011017	Abnormal cellular physiology	5580	PRKCD	OMIM:615559
HP:0011017	Abnormal cellular physiology	2214	FCGR3A	OMIM:615707
HP:0011017	Abnormal cellular physiology	4068	SH2D1A	OMIM:308240
HP:0011017	Abnormal cellular physiology	331	XIAP	OMIM:308240
HP:0011017	Abnormal cellular physiology	8546	AP3B1	OMIM:608233
HP:0011017	Abnormal cellular physiology	3937	LCP2	OMIM:619374
HP:0011017	Abnormal cellular physiology	4358	MPV17	OMIM:256810
HP:0011017	Abnormal cellular physiology	26235	FBXL4	OMIM:615471
HP:0011017	Abnormal cellular physiology	4703	NEB	OMIM:256030
HP:0011017	Abnormal cellular physiology	7273	TTN	OMIM:611705
HP:0011017	Abnormal cellular physiology	27040	LAT	OMIM:617514
HP:0011017	Abnormal cellular physiology	57591	MRTFA	OMIM:618847
HP:0011017	Abnormal cellular physiology	1503	CTPS1	OMIM:615897
HP:0011017	Abnormal cellular physiology	3978	LIG1	OMIM:619774
HP:0011017	Abnormal cellular physiology	7040	TGFB1	OMIM:618213
HP:0011017	Abnormal cellular physiology	2271	FH	OMIM:606812
HP:0011017	Abnormal cellular physiology	79784	MYH14	ORPHA:397744
HP:0011017	Abnormal cellular physiology	57128	LYRM4	OMIM:615595
HP:0011017	Abnormal cellular physiology	355	FAS	ORPHA:3261
HP:0011017	Abnormal cellular physiology	356	FASLG	ORPHA:3261
HP:0011017	Abnormal cellular physiology	843	CASP10	ORPHA:3261
HP:0011017	Abnormal cellular physiology	50619	DEF6	OMIM:619573
HP:0011017	Abnormal cellular physiology	5966	REL	OMIM:619652
HP:0011017	Abnormal cellular physiology	2137	EXTL3	ORPHA:508533
HP:0011017	Abnormal cellular physiology	3561	IL2RG	ORPHA:276
HP:0011017	Abnormal cellular physiology	6850	SYK	OMIM:619381
HP:0011017	Abnormal cellular physiology	3575	IL7R	ORPHA:169154
HP:0011017	Abnormal cellular physiology	4247	MGAT2	ORPHA:79329
HP:0011017	Abnormal cellular physiology	915	CD3D	ORPHA:169160
HP:0011017	Abnormal cellular physiology	916	CD3E	ORPHA:169160
HP:0011017	Abnormal cellular physiology	919	CD247	ORPHA:169160
HP:0011017	Abnormal cellular physiology	5994	RFXAP	ORPHA:572
HP:0011017	Abnormal cellular physiology	4261	CIITA	ORPHA:572
HP:0011017	Abnormal cellular physiology	5993	RFX5	ORPHA:572
HP:0011017	Abnormal cellular physiology	8625	RFXANK	ORPHA:572
HP:0011017	Abnormal cellular physiology	3551	IKBKB	OMIM:615592
HP:0011017	Abnormal cellular physiology	939	CD27	OMIM:615122
HP:0011017	Abnormal cellular physiology	5699	PSMB10	OMIM:620807
HP:0011017	Abnormal cellular physiology	5896	RAG1	ORPHA:331206
HP:0011017	Abnormal cellular physiology	5897	RAG2	ORPHA:331206
HP:0011017	Abnormal cellular physiology	10125	RASGRP1	OMIM:618534
HP:0011017	Abnormal cellular physiology	8456	FOXN1	ORPHA:83471
HP:0011017	Abnormal cellular physiology	7535	ZAP70	ORPHA:911
HP:0011017	Abnormal cellular physiology	5293	PIK3CD	ORPHA:221139
HP:0011017	Abnormal cellular physiology	90417	KNSTRN	ORPHA:221139
HP:0011017	Abnormal cellular physiology	10892	MALT1	OMIM:615468
HP:0011017	Abnormal cellular physiology	3604	TNFRSF9	OMIM:620282
HP:0011017	Abnormal cellular physiology	5880	RAC2	OMIM:618986
HP:0011017	Abnormal cellular physiology	6772	STAT1	OMIM:614162
HP:0011017	Abnormal cellular physiology	3559	IL2RA	OMIM:606367
HP:0011017	Abnormal cellular physiology	55388	MCM10	OMIM:619313
HP:0011017	Abnormal cellular physiology	55719	SLF2	OMIM:620184
HP:0011017	Abnormal cellular physiology	1794	DOCK2	OMIM:616433
HP:0011017	Abnormal cellular physiology	5238	PGM3	ORPHA:443811
HP:0011017	Abnormal cellular physiology	55072	RNF31	OMIM:620632
HP:0011017	Abnormal cellular physiology	84433	CARD11	OMIM:615206
HP:0011017	Abnormal cellular physiology	50485	SMARCAL1	ORPHA:1830
HP:0011017	Abnormal cellular physiology	23765	IL17RA	OMIM:613953
HP:0011017	Abnormal cellular physiology	4000	LMNA	ORPHA:300751
HP:0011017	Abnormal cellular physiology	24145	PANX1	OMIM:618550
HP:0011017	Abnormal cellular physiology	9453	GGPS1	OMIM:619518
HP:0011017	Abnormal cellular physiology	1120	CHKB	OMIM:602541
HP:0011017	Abnormal cellular physiology	410	ARSA	OMIM:250100
HP:0011017	Abnormal cellular physiology	51293	CD320	OMIM:613646
HP:0011017	Abnormal cellular physiology	134218	DNAJC21	OMIM:617052
HP:0011017	Abnormal cellular physiology	4173	MCM4	OMIM:609981
HP:0011017	Abnormal cellular physiology	1763	DNA2	ORPHA:352470
HP:0011017	Abnormal cellular physiology	92667	MGME1	ORPHA:352447
HP:0011017	Abnormal cellular physiology	119559	SFXN4	OMIM:615578
HP:0011017	Abnormal cellular physiology	100303755	PET117	OMIM:619063
HP:0011017	Abnormal cellular physiology	2992	GYG1	ORPHA:263297
HP:0011017	Abnormal cellular physiology	427	ASAH1	OMIM:228000
HP:0011017	Abnormal cellular physiology	917	CD3G	OMIM:615607
HP:0011017	Abnormal cellular physiology	3030	HADHA	OMIM:609016
HP:0011017	Abnormal cellular physiology	7248	TSC1	OMIM:191100
HP:0011017	Abnormal cellular physiology	701	BUB1B	OMIM:176430
HP:0011017	Abnormal cellular physiology	701	BUB1B	OMIM:257300
HP:0011017	Abnormal cellular physiology	9319	TRIP13	OMIM:617598
HP:0011017	Abnormal cellular physiology	1593	CYP27A1	ORPHA:909
HP:0011017	Abnormal cellular physiology	87178	PNPT1	ORPHA:319514
HP:0011017	Abnormal cellular physiology	84277	DNAJC30	ORPHA:104
HP:0011017	Abnormal cellular physiology	4519	MT-CYB	ORPHA:104
HP:0011017	Abnormal cellular physiology	4539	MT-ND4L	ORPHA:104
HP:0011017	Abnormal cellular physiology	5495	PPM1B	ORPHA:163693
HP:0011017	Abnormal cellular physiology	6519	SLC3A1	ORPHA:163693
HP:0011017	Abnormal cellular physiology	9581	PREPL	ORPHA:163693
HP:0011017	Abnormal cellular physiology	79823	CAMKMT	ORPHA:163693
HP:0011017	Abnormal cellular physiology	567	B2M	OMIM:241600
HP:0011017	Abnormal cellular physiology	79087	ALG12	ORPHA:79324
HP:0011017	Abnormal cellular physiology	6773	STAT2	OMIM:616636
HP:0011017	Abnormal cellular physiology	4067	LYN	OMIM:620376
HP:0011017	Abnormal cellular physiology	3394	IRF8	OMIM:226990
HP:0011017	Abnormal cellular physiology	51371	POMP	OMIM:618048
HP:0011017	Abnormal cellular physiology	55343	SLC35C1	ORPHA:99843
HP:0011017	Abnormal cellular physiology	11151	CORO1A	OMIM:615401
HP:0011017	Abnormal cellular physiology	81858	SHARPIN	OMIM:620795
HP:0011017	Abnormal cellular physiology	54790	TET2	OMIM:619126
HP:0011017	Abnormal cellular physiology	4864	NPC1	OMIM:257220
HP:0011017	Abnormal cellular physiology	3514	IGKC	OMIM:614102
HP:0025463	Abnormality of redox activity	3937	LCP2	OMIM:619374
HP:0025465	Abnormal circulating beta globulin level	7018	TF	OMIM:209300
HP:0025465	Abnormal circulating beta globulin level	5994	RFXAP	ORPHA:572
HP:0025465	Abnormal circulating beta globulin level	4261	CIITA	ORPHA:572
HP:0025465	Abnormal circulating beta globulin level	5993	RFX5	ORPHA:572
HP:0025465	Abnormal circulating beta globulin level	8625	RFXANK	ORPHA:572
HP:0025465	Abnormal circulating beta globulin level	567	B2M	OMIM:241600
HP:0025465	Abnormal circulating beta globulin level	2495	FTH1	OMIM:615517
HP:0025465	Abnormal circulating beta globulin level	213	ALB	OMIM:616000
HP:0025466	Beta 2-microglobulinuria	5076	PAX2	ORPHA:97362
HP:0025466	Beta 2-microglobulinuria	5087	PBX1	ORPHA:97362
HP:0025466	Beta 2-microglobulinuria	6514	SLC2A2	OMIM:227810
HP:0025466	Beta 2-microglobulinuria	1184	CLCN5	OMIM:308990
HP:0004630	Anterior beaking of thoracic vertebrae	2517	FUCA1	OMIM:230000
HP:0004633	Lower thoracic kyphosis	4882	NPR2	OMIM:602875
HP:0004634	Cuboid-shaped vertebral bodies	3764	KCNJ8	ORPHA:1517
HP:0004634	Cuboid-shaped vertebral bodies	10060	ABCC9	ORPHA:1517
HP:0004634	Cuboid-shaped vertebral bodies	10060	ABCC9	OMIM:239850
HP:0004635	Cervical C5/C6 vertebrae fusion	2263	FGFR2	ORPHA:87
HP:0004635	Cervical C5/C6 vertebrae fusion	2263	FGFR2	OMIM:101200
HP:0004635	Cervical C5/C6 vertebrae fusion	9573	GDF3	OMIM:613702
HP:0004637	Decreased cervical spine mobility	5626	PROP1	ORPHA:226307
HP:0004637	Decreased cervical spine mobility	5626	PROP1	ORPHA:95494
HP:0004637	Decreased cervical spine mobility	89884	LHX4	ORPHA:226307
HP:0004637	Decreased cervical spine mobility	89884	LHX4	ORPHA:95494
HP:0004637	Decreased cervical spine mobility	8022	LHX3	ORPHA:226307
HP:0004637	Decreased cervical spine mobility	5449	POU1F1	ORPHA:226307
HP:0004637	Decreased cervical spine mobility	5449	POU1F1	ORPHA:95494
HP:0004637	Decreased cervical spine mobility	8820	HESX1	ORPHA:226307
HP:0004637	Decreased cervical spine mobility	8820	HESX1	ORPHA:95494
HP:0004637	Decreased cervical spine mobility	29925	GMPPB	ORPHA:370968
HP:0004637	Decreased cervical spine mobility	79147	FKRP	ORPHA:370968
HP:0004637	Decreased cervical spine mobility	29954	POMT2	ORPHA:370968
HP:0004637	Decreased cervical spine mobility	9215	LARGE1	ORPHA:370968
HP:0004637	Decreased cervical spine mobility	10585	POMT1	ORPHA:370968
HP:0004637	Decreased cervical spine mobility	2736	GLI2	ORPHA:95494
HP:0004637	Decreased cervical spine mobility	3170	FOXA2	ORPHA:95494
HP:0004637	Decreased cervical spine mobility	5015	OTX2	ORPHA:95494
HP:0004637	Decreased cervical spine mobility	6399	TRAPPC2	ORPHA:93284
HP:0004637	Decreased cervical spine mobility	8838	CCN6	OMIM:208230
HP:0001562	Oligohydramnios	2737	GLI3	ORPHA:672
HP:0001562	Oligohydramnios	3651	PDX1	OMIM:260370
HP:0001562	Oligohydramnios	3376	IARS1	OMIM:617093
HP:0001562	Oligohydramnios	3376	IARS1	ORPHA:541423
HP:0001562	Oligohydramnios	5076	PAX2	ORPHA:97362
HP:0001562	Oligohydramnios	5087	PBX1	ORPHA:97362
HP:0001562	Oligohydramnios	5087	PBX1	OMIM:617641
HP:0001562	Oligohydramnios	4621	MYH3	ORPHA:2053
HP:0001562	Oligohydramnios	4621	MYH3	OMIM:193700
HP:0001562	Oligohydramnios	259232	NALCN	ORPHA:2053
HP:0001562	Oligohydramnios	29925	GMPPB	OMIM:615350
HP:0001562	Oligohydramnios	10466	COG5	ORPHA:263487
HP:0001562	Oligohydramnios	1832	DSP	ORPHA:158687
HP:0001562	Oligohydramnios	3728	JUP	ORPHA:158687
HP:0001562	Oligohydramnios	4638	MYLK	OMIM:249210
HP:0001562	Oligohydramnios	5393	EXOSC9	OMIM:618065
HP:0001562	Oligohydramnios	1859	DYRK1A	ORPHA:268261
HP:0001562	Oligohydramnios	1859	DYRK1A	ORPHA:464311
HP:0001562	Oligohydramnios	60529	ALX4	OMIM:613451
HP:0001562	Oligohydramnios	60529	ALX4	ORPHA:228390
HP:0001562	Oligohydramnios	72	ACTG2	OMIM:619431
HP:0001562	Oligohydramnios	7167	TPI1	OMIM:615512
HP:0001562	Oligohydramnios	100151683	RNU4ATAC	OMIM:210710
HP:0001562	Oligohydramnios	23334	SZT2	OMIM:615476
HP:0001562	Oligohydramnios	25821	MTO1	OMIM:614702
HP:0001562	Oligohydramnios	84942	WDR73	OMIM:251300
HP:0001562	Oligohydramnios	1131	CHRM3	ORPHA:2970
HP:0001562	Oligohydramnios	1131	CHRM3	OMIM:100100
HP:0001562	Oligohydramnios	100033413	SNORD116-1	OMIM:176270
HP:0001562	Oligohydramnios	8924	HERC2	OMIM:176270
HP:0001562	Oligohydramnios	23742	NPAP1	OMIM:176270
HP:0001562	Oligohydramnios	338433	SNORD115-1	OMIM:176270
HP:0001562	Oligohydramnios	54551	MAGEL2	OMIM:176270
HP:0001562	Oligohydramnios	7681	MKRN3	OMIM:176270
HP:0001562	Oligohydramnios	145624	PWAR1	OMIM:176270
HP:0001562	Oligohydramnios	3653	IPW	OMIM:176270
HP:0001562	Oligohydramnios	791114	PWRN1	OMIM:176270
HP:0001562	Oligohydramnios	1636	ACE	OMIM:267430
HP:0001562	Oligohydramnios	183	AGT	OMIM:267430
HP:0001562	Oligohydramnios	185	AGTR1	OMIM:267430
HP:0001562	Oligohydramnios	5972	REN	OMIM:267430
HP:0001562	Oligohydramnios	3481	IGF2	ORPHA:231144
HP:0001562	Oligohydramnios	3481	IGF2	OMIM:616489
HP:0001562	Oligohydramnios	3481	IGF2	ORPHA:397590
HP:0001562	Oligohydramnios	283120	H19	ORPHA:231144
HP:0001562	Oligohydramnios	91754	NEK9	OMIM:617022
HP:0001562	Oligohydramnios	54968	TMEM70	ORPHA:1194
HP:0001562	Oligohydramnios	54968	TMEM70	OMIM:614052
HP:0001562	Oligohydramnios	23395	LARS2	OMIM:617021
HP:0001562	Oligohydramnios	9871	SEC24D	OMIM:616294
HP:0001562	Oligohydramnios	9578	CDC42BPB	OMIM:619841
HP:0001562	Oligohydramnios	3313	HSPA9	OMIM:616854
HP:0001562	Oligohydramnios	10229	COQ7	OMIM:616733
HP:0001562	Oligohydramnios	23426	GRIP1	OMIM:617667
HP:0001562	Oligohydramnios	341640	FREM2	OMIM:617666
HP:0001562	Oligohydramnios	30008	EFEMP2	OMIM:614437
HP:0001562	Oligohydramnios	55152	DALRD3	OMIM:618910
HP:0001562	Oligohydramnios	5979	RET	ORPHA:99803
HP:0001562	Oligohydramnios	5979	RET	ORPHA:1848
HP:0001562	Oligohydramnios	429	ASCL1	ORPHA:99803
HP:0001562	Oligohydramnios	8929	PHOX2B	ORPHA:99803
HP:0001562	Oligohydramnios	79158	GNPTAB	ORPHA:576
HP:0001562	Oligohydramnios	1725	DHPS	OMIM:618480
HP:0001562	Oligohydramnios	84987	COX14	OMIM:619053
HP:0001562	Oligohydramnios	84992	PIGY	ORPHA:247262
HP:0001562	Oligohydramnios	84720	PIGO	ORPHA:247262
HP:0001562	Oligohydramnios	93210	PGAP3	ORPHA:247262
HP:0001562	Oligohydramnios	284098	PIGW	ORPHA:247262
HP:0001562	Oligohydramnios	27315	PGAP2	ORPHA:247262
HP:0001562	Oligohydramnios	55650	PIGV	ORPHA:247262
HP:0001562	Oligohydramnios	9487	PIGL	ORPHA:247262
HP:0001562	Oligohydramnios	9739	SETD1A	OMIM:619056
HP:0001562	Oligohydramnios	50619	DEF6	OMIM:619573
HP:0001562	Oligohydramnios	8260	NAA10	OMIM:300855
HP:0001562	Oligohydramnios	274	BIN1	OMIM:255200
HP:0001562	Oligohydramnios	93627	TBCK	OMIM:616900
HP:0001562	Oligohydramnios	93627	TBCK	ORPHA:488632
HP:0001562	Oligohydramnios	708	C1QBP	OMIM:617713
HP:0001562	Oligohydramnios	9325	TRIP4	OMIM:616866
HP:0001562	Oligohydramnios	284086	NEK8	OMIM:615415
HP:0001562	Oligohydramnios	672	BRCA1	ORPHA:84
HP:0001562	Oligohydramnios	10459	MAD2L2	ORPHA:84
HP:0001562	Oligohydramnios	7516	XRCC2	ORPHA:84
HP:0001562	Oligohydramnios	29089	UBE2T	ORPHA:84
HP:0001562	Oligohydramnios	675	BRCA2	ORPHA:84
HP:0001562	Oligohydramnios	55120	FANCL	ORPHA:84
HP:0001562	Oligohydramnios	2177	FANCD2	ORPHA:84
HP:0001562	Oligohydramnios	2175	FANCA	ORPHA:84
HP:0001562	Oligohydramnios	2187	FANCB	ORPHA:84
HP:0001562	Oligohydramnios	2176	FANCC	ORPHA:84
HP:0001562	Oligohydramnios	2178	FANCE	ORPHA:84
HP:0001562	Oligohydramnios	2188	FANCF	ORPHA:84
HP:0001562	Oligohydramnios	2189	FANCG	ORPHA:84
HP:0001562	Oligohydramnios	5888	RAD51	ORPHA:84
HP:0001562	Oligohydramnios	5889	RAD51C	ORPHA:84
HP:0001562	Oligohydramnios	55159	RFWD3	ORPHA:84
HP:0001562	Oligohydramnios	83990	BRIP1	ORPHA:84
HP:0001562	Oligohydramnios	57697	FANCM	ORPHA:84
HP:0001562	Oligohydramnios	79728	PALB2	ORPHA:84
HP:0001562	Oligohydramnios	84464	SLX4	ORPHA:84
HP:0001562	Oligohydramnios	2072	ERCC4	ORPHA:84
HP:0001562	Oligohydramnios	55215	FANCI	ORPHA:84
HP:0001562	Oligohydramnios	3913	LAMB2	OMIM:609049
HP:0001562	Oligohydramnios	22827	PUF60	ORPHA:508488
HP:0001562	Oligohydramnios	84314	TMEM107	ORPHA:564
HP:0001562	Oligohydramnios	26123	TCTN3	ORPHA:564
HP:0001562	Oligohydramnios	26123	TCTN3	ORPHA:2753
HP:0001562	Oligohydramnios	79867	TCTN2	ORPHA:564
HP:0001562	Oligohydramnios	80776	B9D2	ORPHA:564
HP:0001562	Oligohydramnios	79600	TCTN1	ORPHA:564
HP:0001562	Oligohydramnios	57096	RPGRIP1	ORPHA:564
HP:0001562	Oligohydramnios	79848	CSPP1	ORPHA:564
HP:0001562	Oligohydramnios	80184	CEP290	ORPHA:564
HP:0001562	Oligohydramnios	51259	TMEM216	ORPHA:564
HP:0001562	Oligohydramnios	57545	CC2D2A	ORPHA:564
HP:0001562	Oligohydramnios	79583	TMEM231	ORPHA:564
HP:0001562	Oligohydramnios	79583	TMEM231	OMIM:615397
HP:0001562	Oligohydramnios	91147	TMEM67	ORPHA:564
HP:0001562	Oligohydramnios	79770	TXNDC15	ORPHA:564
HP:0001562	Oligohydramnios	79770	TXNDC15	OMIM:619879
HP:0001562	Oligohydramnios	27077	B9D1	ORPHA:564
HP:0001562	Oligohydramnios	23322	RPGRIP1L	ORPHA:564
HP:0001562	Oligohydramnios	54903	MKS1	ORPHA:564
HP:0001562	Oligohydramnios	54903	MKS1	OMIM:249000
HP:0001562	Oligohydramnios	65062	TMEM237	ORPHA:564
HP:0001562	Oligohydramnios	6045	RNF2	OMIM:619460
HP:0001562	Oligohydramnios	27031	NPHP3	OMIM:267010
HP:0001562	Oligohydramnios	27031	NPHP3	OMIM:208540
HP:0001562	Oligohydramnios	27031	NPHP3	ORPHA:3032
HP:0001562	Oligohydramnios	10087	CERT1	OMIM:616351
HP:0001562	Oligohydramnios	26276	VPS33B	OMIM:208085
HP:0001562	Oligohydramnios	1656	DDX6	OMIM:618653
HP:0001562	Oligohydramnios	3977	LIFR	OMIM:601559
HP:0001562	Oligohydramnios	3977	LIFR	ORPHA:3206
HP:0001562	Oligohydramnios	79796	ALG9	OMIM:263210
HP:0001562	Oligohydramnios	79796	ALG9	ORPHA:79328
HP:0001562	Oligohydramnios	1822	ATN1	OMIM:618494
HP:0001562	Oligohydramnios	4700	NDUFA6	OMIM:618253
HP:0001562	Oligohydramnios	84300	UQCC2	OMIM:615824
HP:0001562	Oligohydramnios	2783	GNB2	OMIM:619503
HP:0001562	Oligohydramnios	29980	DONSON	OMIM:617604
HP:0001562	Oligohydramnios	29980	DONSON	OMIM:251230
HP:0001562	Oligohydramnios	6304	SATB1	OMIM:619229
HP:0001562	Oligohydramnios	11193	WBP4	OMIM:620852
HP:0001562	Oligohydramnios	79053	ALG8	OMIM:608104
HP:0001562	Oligohydramnios	79053	ALG8	ORPHA:79325
HP:0001562	Oligohydramnios	6638	SNRPN	ORPHA:177907
HP:0001562	Oligohydramnios	55644	OSGEP	OMIM:617729
HP:0001562	Oligohydramnios	57572	DOCK6	OMIM:614219
HP:0001562	Oligohydramnios	2200	FBN1	OMIM:616914
HP:0001562	Oligohydramnios	27130	INVS	OMIM:602088
HP:0001562	Oligohydramnios	760	CA2	ORPHA:2785
HP:0001562	Oligohydramnios	3039	HBA1	ORPHA:163596
HP:0001562	Oligohydramnios	3040	HBA2	ORPHA:163596
HP:0001562	Oligohydramnios	8241	RBM10	OMIM:311900
HP:0001562	Oligohydramnios	9653	HS2ST1	OMIM:619194
HP:0001562	Oligohydramnios	253738	EBF3	OMIM:617330
HP:0001562	Oligohydramnios	5447	POR	OMIM:201750
HP:0001562	Oligohydramnios	3975	LHX1	ORPHA:261265
HP:0001562	Oligohydramnios	6928	HNF1B	ORPHA:261265
HP:0001562	Oligohydramnios	5977	DPF2	OMIM:618027
HP:0001562	Oligohydramnios	57061	HYMAI	ORPHA:96191
HP:0001562	Oligohydramnios	5325	PLAGL1	ORPHA:96191
HP:0001562	Oligohydramnios	4629	MYH11	OMIM:619351
HP:0001562	Oligohydramnios	5314	PKHD1	OMIM:263200
HP:0001562	Oligohydramnios	5314	PKHD1	ORPHA:731
HP:0001562	Oligohydramnios	29927	SEC61A1	OMIM:617056
HP:0001562	Oligohydramnios	213	ALB	OMIM:616000
HP:0001562	Oligohydramnios	213	ALB	ORPHA:86816
HP:0001562	Oligohydramnios	29957	SLC25A24	OMIM:612289
HP:0001562	Oligohydramnios	2627	GATA6	ORPHA:2255
HP:0001562	Oligohydramnios	8087	FXR1	OMIM:618822
HP:0001562	Oligohydramnios	8087	FXR1	OMIM:618823
HP:0001562	Oligohydramnios	54796	BNC2	ORPHA:93110
HP:0001562	Oligohydramnios	8516	ITGA8	ORPHA:1848
HP:0001562	Oligohydramnios	8516	ITGA8	OMIM:191830
HP:0001562	Oligohydramnios	26281	FGF20	ORPHA:1848
HP:0001562	Oligohydramnios	2674	GFRA1	ORPHA:1848
HP:0001562	Oligohydramnios	7484	WNT9B	ORPHA:1848
HP:0001562	Oligohydramnios	80000	GREB1L	ORPHA:1848
HP:0001562	Oligohydramnios	10056	FARSB	OMIM:613658
HP:0001562	Oligohydramnios	55165	CEP55	OMIM:236500
HP:0001562	Oligohydramnios	51360	MBTPS2	OMIM:308205
HP:0001562	Oligohydramnios	3636	INPPL1	OMIM:258480
HP:0001562	Oligohydramnios	10398	MYL9	OMIM:619365
HP:0001562	Oligohydramnios	1028	CDKN1C	ORPHA:397590
HP:0001562	Oligohydramnios	5324	PLAG1	ORPHA:397590
HP:0001562	Oligohydramnios	8091	HMGA2	ORPHA:397590
HP:0001562	Oligohydramnios	9928	KIF14	OMIM:616258
HP:0001562	Oligohydramnios	64135	IFIH1	OMIM:615846
HP:0001562	Oligohydramnios	118924	FRA10AC1	OMIM:620113
HP:0001562	Oligohydramnios	199221	DZIP1L	ORPHA:731
HP:0001562	Oligohydramnios	139285	AMER1	OMIM:300373
HP:0001562	Oligohydramnios	1376	CPT2	OMIM:608836
HP:0001562	Oligohydramnios	126792	B3GALT6	ORPHA:536467
HP:0001562	Oligohydramnios	7355	SLC35A2	OMIM:300896
HP:0001562	Oligohydramnios	8218	CLTCL1	ORPHA:453510
HP:0001562	Oligohydramnios	2193	FARSA	OMIM:619013
HP:0001562	Oligohydramnios	119559	SFXN4	OMIM:615578
HP:0001562	Oligohydramnios	55681	SCYL2	ORPHA:1143
HP:0001562	Oligohydramnios	84570	COL25A1	ORPHA:1143
HP:0001562	Oligohydramnios	57222	ERGIC1	ORPHA:1143
HP:0001562	Oligohydramnios	10269	ZMPSTE24	OMIM:275210
HP:0001562	Oligohydramnios	54361	WNT4	OMIM:611812
HP:0001562	Oligohydramnios	54361	WNT4	ORPHA:139466
HP:0001562	Oligohydramnios	701	BUB1B	OMIM:257300
HP:0001562	Oligohydramnios	10516	FBLN5	OMIM:219100
HP:0001562	Oligohydramnios	7543	ZFX	OMIM:301118
HP:0001562	Oligohydramnios	529	ATP6V1E1	OMIM:617402
HP:0001562	Oligohydramnios	7319	UBE2A	ORPHA:163956
HP:0001562	Oligohydramnios	27145	FILIP1	OMIM:620775
HP:0001562	Oligohydramnios	4713	NDUFB7	OMIM:620135
HP:0001562	Oligohydramnios	78987	CRELD1	OMIM:620771
HP:0001562	Oligohydramnios	6888	TALDO1	OMIM:606003
HP:0001562	Oligohydramnios	9900	SV2A	OMIM:620772
HP:0001562	Oligohydramnios	6005	RHAG	ORPHA:71275
HP:0001562	Oligohydramnios	6006	RHCE	ORPHA:71275
HP:0001562	Oligohydramnios	6007	RHD	ORPHA:71275
HP:0001562	Oligohydramnios	168667	BMPER	OMIM:608022
HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles	4000	LMNA	OMIM:181350
HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles	4000	LMNA	ORPHA:98855
HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles	4000	LMNA	ORPHA:98853
HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles	5339	PLEC	ORPHA:254361
HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles	2010	EMD	OMIM:310300
HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles	2010	EMD	ORPHA:98863
HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles	2273	FHL1	ORPHA:98863
HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles	79188	TMEM43	ORPHA:98853
HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles	23345	SYNE1	ORPHA:98853
HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles	23224	SYNE2	ORPHA:98853
HP:0030766	Ear pain	8314	BAP1	ORPHA:2495
HP:0030766	Ear pain	4771	NF2	ORPHA:2495
HP:0030766	Ear pain	6598	SMARCB1	ORPHA:2495
HP:0030766	Ear pain	5155	PDGFB	ORPHA:2495
HP:0030766	Ear pain	84231	TRAF7	ORPHA:2495
HP:0030766	Ear pain	6608	SMO	ORPHA:2495
HP:0030766	Ear pain	207	AKT1	ORPHA:2495
HP:0030766	Ear pain	5290	PIK3CA	ORPHA:2495
HP:0030766	Ear pain	7015	TERT	ORPHA:2495
HP:0030766	Ear pain	51684	SUFU	ORPHA:2495
HP:0030766	Ear pain	6605	SMARCE1	ORPHA:2495
HP:0030766	Ear pain	3868	KRT16	ORPHA:2309
HP:0030766	Ear pain	3872	KRT17	ORPHA:2309
HP:0030766	Ear pain	3853	KRT6A	ORPHA:2309
HP:0030766	Ear pain	3854	KRT6B	ORPHA:2309
HP:0030765	Sleep terror	10165	SLC25A13	ORPHA:247585
HP:0030765	Sleep terror	6608	SMO	OMIM:241800
HP:0030765	Sleep terror	123263	MTFMT	OMIM:614947
HP:0030764	Ochronosis	3081	HGD	ORPHA:56
HP:0030764	Ochronosis	3081	HGD	OMIM:203500
HP:0000096	Glomerular sclerosis	8518	ELP1	OMIM:223900
HP:0000096	Glomerular sclerosis	7369	UMOD	OMIM:162000
HP:0000096	Glomerular sclerosis	27235	COQ2	OMIM:607426
HP:0000096	Glomerular sclerosis	11277	TREX1	ORPHA:247691
HP:0000096	Glomerular sclerosis	100147744	RNU7-1	OMIM:619487
HP:0000096	Glomerular sclerosis	79934	COQ8B	OMIM:615573
HP:0000096	Glomerular sclerosis	9722	NOS1AP	OMIM:619155
HP:0000096	Glomerular sclerosis	5339	PLEC	ORPHA:158684
HP:0000096	Glomerular sclerosis	3691	ITGB4	ORPHA:158684
HP:0000096	Glomerular sclerosis	57728	WDR19	OMIM:614377
HP:0000096	Glomerular sclerosis	7428	VHL	ORPHA:29072
HP:0000096	Glomerular sclerosis	7428	VHL	ORPHA:276621
HP:0000096	Glomerular sclerosis	1743	DLST	ORPHA:29072
HP:0000096	Glomerular sclerosis	4191	MDH2	ORPHA:29072
HP:0000096	Glomerular sclerosis	5979	RET	ORPHA:29072
HP:0000096	Glomerular sclerosis	5979	RET	ORPHA:276621
HP:0000096	Glomerular sclerosis	6389	SDHA	ORPHA:29072
HP:0000096	Glomerular sclerosis	23095	KIF1B	ORPHA:29072
HP:0000096	Glomerular sclerosis	2271	FH	ORPHA:29072
HP:0000096	Glomerular sclerosis	8402	SLC25A11	ORPHA:29072
HP:0000096	Glomerular sclerosis	54949	SDHAF2	ORPHA:29072
HP:0000096	Glomerular sclerosis	55654	TMEM127	ORPHA:29072
HP:0000096	Glomerular sclerosis	4763	NF1	ORPHA:29072
HP:0000096	Glomerular sclerosis	6391	SDHC	ORPHA:29072
HP:0000096	Glomerular sclerosis	6392	SDHD	ORPHA:29072
HP:0000096	Glomerular sclerosis	6392	SDHD	ORPHA:276621
HP:0000096	Glomerular sclerosis	6390	SDHB	ORPHA:29072
HP:0000096	Glomerular sclerosis	6390	SDHB	ORPHA:276621
HP:0000096	Glomerular sclerosis	4149	MAX	ORPHA:29072
HP:0000096	Glomerular sclerosis	4582	MUC1	OMIM:174000
HP:0000096	Glomerular sclerosis	81603	TRIM8	OMIM:619428
HP:0000096	Glomerular sclerosis	1788	DNMT3A	ORPHA:276621
HP:0000096	Glomerular sclerosis	2034	EPAS1	ORPHA:276621
HP:0000096	Glomerular sclerosis	2184	FAH	OMIM:276700
HP:0000096	Glomerular sclerosis	1184	CLCN5	OMIM:310468
HP:0000096	Glomerular sclerosis	55644	OSGEP	OMIM:617729
HP:0000096	Glomerular sclerosis	4868	NPHS1	OMIM:256300
HP:0000096	Glomerular sclerosis	7225	TRPC6	OMIM:603965
HP:0000096	Glomerular sclerosis	7225	TRPC6	ORPHA:656
HP:0000096	Glomerular sclerosis	4558	MT-TF	ORPHA:550
HP:0000096	Glomerular sclerosis	4572	MT-TQ	ORPHA:550
HP:0000096	Glomerular sclerosis	4512	MT-CO1	ORPHA:550
HP:0000096	Glomerular sclerosis	4513	MT-CO2	ORPHA:550
HP:0000096	Glomerular sclerosis	4514	MT-CO3	ORPHA:550
HP:0000096	Glomerular sclerosis	4578	MT-TW	ORPHA:550
HP:0000096	Glomerular sclerosis	4540	MT-ND5	ORPHA:550
HP:0000096	Glomerular sclerosis	4541	MT-ND6	ORPHA:550
HP:0000096	Glomerular sclerosis	4535	MT-ND1	ORPHA:550
HP:0000096	Glomerular sclerosis	4538	MT-ND4	ORPHA:550
HP:0000096	Glomerular sclerosis	4567	MT-TL1	ORPHA:550
HP:0000096	Glomerular sclerosis	4574	MT-TS1	ORPHA:550
HP:0000096	Glomerular sclerosis	4575	MT-TS2	ORPHA:550
HP:0000096	Glomerular sclerosis	4564	MT-TH	ORPHA:550
HP:0000096	Glomerular sclerosis	5972	REN	OMIM:613092
HP:0000096	Glomerular sclerosis	112858	TP53RK	OMIM:617730
HP:0000096	Glomerular sclerosis	8879	SGPL1	OMIM:617575
HP:0000096	Glomerular sclerosis	8270	LAGE3	OMIM:301006
HP:0000096	Glomerular sclerosis	5076	PAX2	OMIM:616002
HP:0000096	Glomerular sclerosis	5076	PAX2	ORPHA:656
HP:0000096	Glomerular sclerosis	29927	SEC61A1	OMIM:617056
HP:0000096	Glomerular sclerosis	284086	NEK8	OMIM:620903
HP:0000096	Glomerular sclerosis	51002	TPRKB	OMIM:617731
HP:0000096	Glomerular sclerosis	10785	WDR4	OMIM:618347
HP:0000096	Glomerular sclerosis	55505	NOP10	OMIM:620425
HP:0000096	Glomerular sclerosis	57122	NUP107	OMIM:618348
HP:0000096	Glomerular sclerosis	57122	NUP107	OMIM:616730
HP:0000096	Glomerular sclerosis	57122	NUP107	ORPHA:656
HP:0000096	Glomerular sclerosis	55746	NUP133	OMIM:618349
HP:0000096	Glomerular sclerosis	55746	NUP133	ORPHA:656
HP:0000096	Glomerular sclerosis	55746	NUP133	OMIM:618177
HP:0000096	Glomerular sclerosis	84942	WDR73	OMIM:251300
HP:0000096	Glomerular sclerosis	3675	ITGA3	OMIM:614748
HP:0000096	Glomerular sclerosis	7490	WT1	ORPHA:347
HP:0000096	Glomerular sclerosis	7490	WT1	ORPHA:656
HP:0000096	Glomerular sclerosis	7490	WT1	OMIM:256370
HP:0000096	Glomerular sclerosis	7490	WT1	OMIM:194080
HP:0000096	Glomerular sclerosis	7490	WT1	OMIM:136680
HP:0000096	Glomerular sclerosis	2542	SLC37A4	OMIM:232220
HP:0000096	Glomerular sclerosis	2542	SLC37A4	OMIM:232240
HP:0000096	Glomerular sclerosis	81	ACTN4	OMIM:603278
HP:0000096	Glomerular sclerosis	81	ACTN4	ORPHA:656
HP:0000096	Glomerular sclerosis	23607	CD2AP	OMIM:607832
HP:0000096	Glomerular sclerosis	23607	CD2AP	ORPHA:656
HP:0000096	Glomerular sclerosis	55243	KIRREL1	OMIM:619201
HP:0000096	Glomerular sclerosis	10651	MTX2	OMIM:619127
HP:0000096	Glomerular sclerosis	23165	NUP205	OMIM:616893
HP:0000096	Glomerular sclerosis	23165	NUP205	ORPHA:656
HP:0000096	Glomerular sclerosis	3913	LAMB2	OMIM:614199
HP:0000096	Glomerular sclerosis	9688	NUP93	OMIM:616892
HP:0000096	Glomerular sclerosis	9688	NUP93	ORPHA:656
HP:0000096	Glomerular sclerosis	5800	PTPRO	OMIM:614196
HP:0000096	Glomerular sclerosis	5800	PTPRO	ORPHA:656
HP:0000096	Glomerular sclerosis	50485	SMARCAL1	ORPHA:1830
HP:0000096	Glomerular sclerosis	50485	SMARCAL1	OMIM:242900
HP:0000096	Glomerular sclerosis	65082	VPS33A	OMIM:617303
HP:0000096	Glomerular sclerosis	182	JAG1	OMIM:118450
HP:0000096	Glomerular sclerosis	84520	GON7	OMIM:619603
HP:0000096	Glomerular sclerosis	4010	LMX1B	OMIM:256020
HP:0000096	Glomerular sclerosis	4643	MYO1E	ORPHA:656
HP:0000096	Glomerular sclerosis	4643	MYO1E	OMIM:614131
HP:0000096	Glomerular sclerosis	64423	INF2	ORPHA:656
HP:0000096	Glomerular sclerosis	64423	INF2	OMIM:613237
HP:0000096	Glomerular sclerosis	64423	INF2	OMIM:614455
HP:0000096	Glomerular sclerosis	26130	GAPVD1	ORPHA:656
HP:0000096	Glomerular sclerosis	51479	ANKFY1	ORPHA:656
HP:0000096	Glomerular sclerosis	54443	ANLN	ORPHA:656
HP:0000096	Glomerular sclerosis	54443	ANLN	OMIM:616032
HP:0000096	Glomerular sclerosis	286204	CRB2	ORPHA:656
HP:0000096	Glomerular sclerosis	286204	CRB2	OMIM:616220
HP:0000096	Glomerular sclerosis	2013	EMP2	ORPHA:656
HP:0000096	Glomerular sclerosis	79023	NUP37	ORPHA:656
HP:0000096	Glomerular sclerosis	51196	PLCE1	ORPHA:656
HP:0000096	Glomerular sclerosis	51196	PLCE1	OMIM:610725
HP:0000096	Glomerular sclerosis	79902	NUP85	ORPHA:656
HP:0000096	Glomerular sclerosis	79902	NUP85	OMIM:618176
HP:0000096	Glomerular sclerosis	1285	COL4A3	ORPHA:656
HP:0000096	Glomerular sclerosis	396	ARHGDIA	ORPHA:656
HP:0000096	Glomerular sclerosis	23279	NUP160	ORPHA:656
HP:0000096	Glomerular sclerosis	23279	NUP160	OMIM:618178
HP:0000096	Glomerular sclerosis	9863	MAGI2	ORPHA:656
HP:0000096	Glomerular sclerosis	8542	APOL1	ORPHA:656
HP:0000096	Glomerular sclerosis	8542	APOL1	OMIM:612551
HP:0000096	Glomerular sclerosis	54885	TBC1D8B	ORPHA:656
HP:0000096	Glomerular sclerosis	54885	TBC1D8B	OMIM:301028
HP:0000096	Glomerular sclerosis	7827	NPHS2	ORPHA:656
HP:0000096	Glomerular sclerosis	7827	NPHS2	OMIM:600995
HP:0000096	Glomerular sclerosis	83478	ARHGAP24	ORPHA:656
HP:0000096	Glomerular sclerosis	23500	DAAM2	ORPHA:656
HP:0000096	Glomerular sclerosis	23500	DAAM2	OMIM:619263
HP:0000096	Glomerular sclerosis	1736	DKC1	OMIM:301108
HP:0000096	Glomerular sclerosis	2538	G6PC1	OMIM:232200
HP:0000096	Glomerular sclerosis	3911	LAMA5	OMIM:620049
HP:0000096	Glomerular sclerosis	51004	COQ6	OMIM:614650
HP:0000096	Glomerular sclerosis	79731	NARS2	OMIM:616239
HP:0000096	Glomerular sclerosis	950	SCARB2	OMIM:254900
HP:0000096	Glomerular sclerosis	1188	CLCNKB	ORPHA:358
HP:0000096	Glomerular sclerosis	6559	SLC12A3	ORPHA:358
HP:0000096	Glomerular sclerosis	7809	BSND	OMIM:602522
HP:0000096	Glomerular sclerosis	8260	NAA10	OMIM:300855
HP:0030760	Renal fibrosis	261734	NPHP4	OMIM:606966
HP:0030760	Renal fibrosis	54	ACP5	OMIM:607944
HP:0030760	Renal fibrosis	7809	BSND	OMIM:602522
HP:0030760	Renal fibrosis	4867	NPHP1	OMIM:266900
HP:0030760	Renal fibrosis	4867	NPHP1	OMIM:256100
HP:0030760	Renal fibrosis	5972	REN	OMIM:613092
HP:0030760	Renal fibrosis	5800	PTPRO	OMIM:614196
HP:0030760	Renal fibrosis	5314	PKHD1	OMIM:263200
HP:0030760	Renal fibrosis	137682	NDUFAF6	OMIM:618913
HP:0030760	Renal fibrosis	2632	GBE1	OMIM:232500
HP:0030760	Renal fibrosis	84168	ANTXR1	OMIM:230740
HP:0030760	Renal fibrosis	4582	MUC1	OMIM:174000
HP:0030760	Renal fibrosis	1184	CLCN5	OMIM:310468
HP:0030760	Renal fibrosis	27031	NPHP3	OMIM:604387
HP:0030760	Renal fibrosis	2542	SLC37A4	ORPHA:79259
HP:0030760	Renal fibrosis	403	ARL3	OMIM:618161
HP:0030760	Renal fibrosis	9056	SLC7A7	ORPHA:470
HP:0030769	Exencephaly	95681	CEP41	OMIM:614464
HP:0033995	Microvillus inclusions	6809	STX3	OMIM:619445
HP:0033997	Perinuclear cardiomyocyte vacuolization	6123	RPL3L	OMIM:619371
HP:0025473	Hyperpigmented papule	2316	FLNA	ORPHA:88630
HP:0025473	Hyperpigmented papule	5167	ENPP1	ORPHA:758
HP:0025473	Hyperpigmented papule	368	ABCC6	ORPHA:758
HP:0025473	Hyperpigmented papule	56983	POGLUT1	ORPHA:79145
HP:0025473	Hyperpigmented papule	3852	KRT5	ORPHA:79145
HP:0025473	Hyperpigmented papule	23509	POFUT1	ORPHA:79145
HP:0025473	Hyperpigmented papule	55851	PSENEN	ORPHA:79145
HP:0025473	Hyperpigmented papule	3815	KIT	ORPHA:79455
HP:0025473	Hyperpigmented papule	3417	IDH1	ORPHA:99646
HP:0025474	Erythematous plaque	3939	LDHA	ORPHA:284426
HP:0025474	Erythematous plaque	3858	KRT10	OMIM:607602
HP:0025474	Erythematous plaque	84868	HAVCR2	ORPHA:86884
HP:0025474	Erythematous plaque	79092	CARD14	OMIM:173200
HP:0025474	Erythematous plaque	5921	RASA1	ORPHA:90307
HP:0025474	Erythematous plaque	4210	MEFV	ORPHA:3243
HP:0025474	Erythematous plaque	5777	PTPN6	ORPHA:3243
HP:0025474	Erythematous plaque	9526	MPDU1	ORPHA:79323
HP:0025474	Erythematous plaque	1280	COL2A1	ORPHA:485
HP:0025474	Erythematous plaque	54795	TRPM4	OMIM:618531
HP:0025474	Erythematous plaque	130340	AP1S3	ORPHA:247353
HP:0025474	Erythematous plaque	26525	IL36RN	ORPHA:247353
HP:0025474	Erythematous plaque	1294	COL7A1	ORPHA:158673
HP:0025474	Erythematous plaque	10682	EBP	ORPHA:35173
HP:0025474	Erythematous plaque	6392	SDHD	ORPHA:100093
HP:0025475	Erythematous macule	5580	PRKCD	OMIM:615559
HP:0025475	Erythematous macule	1493	CTLA4	ORPHA:2584
HP:0025475	Erythematous macule	940	CD28	ORPHA:2584
HP:0025475	Erythematous macule	7133	TNFRSF1B	ORPHA:2584
HP:0025476	Testicular lipomatosis	5290	PIK3CA	ORPHA:140944
HP:0025477	Periarticular calcification	8838	CCN6	ORPHA:1159
HP:0025477	Periarticular calcification	4907	NT5E	OMIM:211800
HP:0025477	Periarticular calcification	5167	ENPP1	ORPHA:51608
HP:0025477	Periarticular calcification	5167	ENPP1	OMIM:208000
HP:0025477	Periarticular calcification	368	ABCC6	ORPHA:51608
HP:0025478	Atrial standstill	6331	SCN5A	OMIM:601154
HP:0025478	Atrial standstill	6331	SCN5A	ORPHA:1344
HP:0025478	Atrial standstill	4878	NPPA	ORPHA:1344
HP:0025478	Atrial standstill	4878	NPPA	OMIM:615745
HP:0025478	Atrial standstill	2702	GJA5	OMIM:108770
HP:0025478	Atrial standstill	845	CASQ2	OMIM:604772
HP:0025478	Atrial standstill	10345	TRDN	OMIM:604772
HP:0025478	Atrial standstill	6262	RYR2	OMIM:604772
HP:0025479	Self-neglect	23230	VPS13A	ORPHA:2388
HP:0000272	Malar flattening	50964	SOST	OMIM:269500
HP:0000272	Malar flattening	1280	COL2A1	OMIM:271700
HP:0000272	Malar flattening	1280	COL2A1	OMIM:108300
HP:0000272	Malar flattening	1280	COL2A1	OMIM:156550
HP:0000272	Malar flattening	1280	COL2A1	ORPHA:166100
HP:0000272	Malar flattening	1280	COL2A1	OMIM:183900
HP:0000272	Malar flattening	1280	COL2A1	ORPHA:85166
HP:0000272	Malar flattening	10128	LRPPRC	OMIM:220111
HP:0000272	Malar flattening	7528	YY1	ORPHA:506358
HP:0000272	Malar flattening	7528	YY1	OMIM:617557
HP:0000272	Malar flattening	2077	ERF	OMIM:600775
HP:0000272	Malar flattening	9131	AIFM1	OMIM:300232
HP:0000272	Malar flattening	6535	SLC6A8	OMIM:300352
HP:0000272	Malar flattening	6535	SLC6A8	ORPHA:52503
HP:0000272	Malar flattening	11253	MAN1B1	ORPHA:397941
HP:0000272	Malar flattening	11253	MAN1B1	OMIM:614202
HP:0000272	Malar flattening	10262	SF3B4	OMIM:154400
HP:0000272	Malar flattening	10262	SF3B4	ORPHA:1788
HP:0000272	Malar flattening	2200	FBN1	ORPHA:1885
HP:0000272	Malar flattening	2200	FBN1	OMIM:154700
HP:0000272	Malar flattening	54507	ADAMTSL4	ORPHA:1885
HP:0000272	Malar flattening	8425	LTBP4	OMIM:613177
HP:0000272	Malar flattening	652	BMP4	ORPHA:828
HP:0000272	Malar flattening	55624	POMGNT1	OMIM:253280
HP:0000272	Malar flattening	2261	FGFR3	ORPHA:53271
HP:0000272	Malar flattening	2261	FGFR3	ORPHA:93262
HP:0000272	Malar flattening	2261	FGFR3	OMIM:146000
HP:0000272	Malar flattening	2261	FGFR3	OMIM:100800
HP:0000272	Malar flattening	2261	FGFR3	OMIM:602849
HP:0000272	Malar flattening	55777	MBD5	ORPHA:228402
HP:0000272	Malar flattening	3636	INPPL1	ORPHA:3144
HP:0000272	Malar flattening	23169	SLC35D1	ORPHA:3144
HP:0000272	Malar flattening	23169	SLC35D1	OMIM:269250
HP:0000272	Malar flattening	10992	SF3B2	OMIM:164210
HP:0000272	Malar flattening	4000	LMNA	OMIM:176670
HP:0000272	Malar flattening	118987	PDZD8	OMIM:620021
HP:0000272	Malar flattening	23126	POGZ	ORPHA:468678
HP:0000272	Malar flattening	23126	POGZ	OMIM:616364
HP:0000272	Malar flattening	2316	FLNA	OMIM:300244
HP:0000272	Malar flattening	2316	FLNA	ORPHA:90652
HP:0000272	Malar flattening	2316	FLNA	OMIM:304120
HP:0000272	Malar flattening	2316	FLNA	OMIM:311300
HP:0000272	Malar flattening	267010	RNU12	OMIM:603116
HP:0000272	Malar flattening	267010	RNU12	ORPHA:85199
HP:0000272	Malar flattening	613	BCR	ORPHA:261330
HP:0000272	Malar flattening	1399	CRKL	ORPHA:261330
HP:0000272	Malar flattening	5594	MAPK1	ORPHA:261330
HP:0000272	Malar flattening	80816	ASXL3	OMIM:615485
HP:0000272	Malar flattening	1723	DHODH	OMIM:263750
HP:0000272	Malar flattening	1723	DHODH	ORPHA:246
HP:0000272	Malar flattening	10084	PQBP1	ORPHA:93946
HP:0000272	Malar flattening	10084	PQBP1	OMIM:309500
HP:0000272	Malar flattening	29072	SETD2	OMIM:620157
HP:0000272	Malar flattening	29072	SETD2	OMIM:620155
HP:0000272	Malar flattening	29072	SETD2	OMIM:616831
HP:0000272	Malar flattening	5189	PEX1	OMIM:214100
HP:0000272	Malar flattening	4038	LRP4	ORPHA:3258
HP:0000272	Malar flattening	4038	LRP4	OMIM:212780
HP:0000272	Malar flattening	324	APC	ORPHA:3258
HP:0000272	Malar flattening	55650	PIGV	OMIM:239300
HP:0000272	Malar flattening	1301	COL11A1	OMIM:154780
HP:0000272	Malar flattening	1301	COL11A1	OMIM:228520
HP:0000272	Malar flattening	1301	COL11A1	OMIM:604841
HP:0000272	Malar flattening	1301	COL11A1	ORPHA:560
HP:0000272	Malar flattening	7021	TFAP2B	ORPHA:46627
HP:0000272	Malar flattening	4853	NOTCH2	OMIM:102500
HP:0000272	Malar flattening	9968	MED12	ORPHA:93932
HP:0000272	Malar flattening	9326	ZNHIT3	ORPHA:2836
HP:0000272	Malar flattening	5426	POLE	OMIM:615139
HP:0000272	Malar flattening	51109	RDH11	OMIM:616108
HP:0000272	Malar flattening	51109	RDH11	ORPHA:436245
HP:0000272	Malar flattening	55858	TMEM165	OMIM:614727
HP:0000272	Malar flattening	2317	FLNB	OMIM:108721
HP:0000272	Malar flattening	2317	FLNB	OMIM:108720
HP:0000272	Malar flattening	2317	FLNB	OMIM:150250
HP:0000272	Malar flattening	2317	FLNB	ORPHA:503
HP:0000272	Malar flattening	2263	FGFR2	ORPHA:93259
HP:0000272	Malar flattening	2263	FGFR2	OMIM:101400
HP:0000272	Malar flattening	2263	FGFR2	OMIM:123790
HP:0000272	Malar flattening	2263	FGFR2	OMIM:101200
HP:0000272	Malar flattening	2263	FGFR2	OMIM:207410
HP:0000272	Malar flattening	2263	FGFR2	OMIM:614592
HP:0000272	Malar flattening	2263	FGFR2	ORPHA:1555
HP:0000272	Malar flattening	2263	FGFR2	OMIM:123150
HP:0000272	Malar flattening	5191	PEX7	OMIM:215100
HP:0000272	Malar flattening	7020	TFAP2A	OMIM:113620
HP:0000272	Malar flattening	1302	COL11A2	OMIM:184840
HP:0000272	Malar flattening	1302	COL11A2	OMIM:614524
HP:0000272	Malar flattening	1302	COL11A2	OMIM:215150
HP:0000272	Malar flattening	1302	COL11A2	ORPHA:166100
HP:0000272	Malar flattening	10484	SEC23A	OMIM:607812
HP:0000272	Malar flattening	860	RUNX2	OMIM:119600
HP:0000272	Malar flattening	79813	EHMT1	OMIM:610253
HP:0000272	Malar flattening	7291	TWIST1	OMIM:101400
HP:0000272	Malar flattening	7291	TWIST1	OMIM:180750
HP:0000272	Malar flattening	5144	PDE4D	OMIM:614613
HP:0000272	Malar flattening	5144	PDE4D	ORPHA:439822
HP:0000272	Malar flattening	23314	SATB2	OMIM:612313
HP:0000272	Malar flattening	55636	CHD7	OMIM:214800
HP:0000272	Malar flattening	8642	DCHS1	OMIM:601390
HP:0000272	Malar flattening	26040	SETBP1	OMIM:269150
HP:0000272	Malar flattening	374654	KIF7	OMIM:607131
HP:0000272	Malar flattening	2296	FOXC1	OMIM:602482
HP:0000272	Malar flattening	1789	DNMT3B	OMIM:242860
HP:0000272	Malar flattening	1836	SLC26A2	OMIM:600972
HP:0000272	Malar flattening	1836	SLC26A2	OMIM:256050
HP:0000272	Malar flattening	5447	POR	OMIM:201750
HP:0000272	Malar flattening	5447	POR	OMIM:207410
HP:0000272	Malar flattening	8558	CDK10	OMIM:617694
HP:0000272	Malar flattening	4803	NGF	ORPHA:64752
HP:0000272	Malar flattening	4914	NTRK1	ORPHA:64752
HP:0000272	Malar flattening	81031	SLC2A10	ORPHA:3342
HP:0000272	Malar flattening	81031	SLC2A10	OMIM:208050
HP:0000272	Malar flattening	11128	POLR3A	OMIM:264090
HP:0000272	Malar flattening	11128	POLR3A	ORPHA:3455
HP:0000272	Malar flattening	157570	ESCO2	ORPHA:3103
HP:0000272	Malar flattening	157570	ESCO2	OMIM:268300
HP:0000272	Malar flattening	145258	GSC	OMIM:602471
HP:0000272	Malar flattening	2736	GLI2	OMIM:610829
HP:0000272	Malar flattening	4036	LRP2	OMIM:222448
HP:0000272	Malar flattening	79718	TBL1XR1	OMIM:602342
HP:0000272	Malar flattening	79718	TBL1XR1	ORPHA:487825
HP:0000272	Malar flattening	26137	ZBTB20	OMIM:259050
HP:0000272	Malar flattening	4089	SMAD4	OMIM:139210
HP:0000272	Malar flattening	4849	CNOT3	OMIM:618672
HP:0000272	Malar flattening	641	BLM	OMIM:210900
HP:0000272	Malar flattening	641	BLM	ORPHA:125
HP:0000272	Malar flattening	57492	ARID1B	ORPHA:251056
HP:0000272	Malar flattening	6231	RPS26	OMIM:613309
HP:0000272	Malar flattening	2006	ELN	OMIM:194050
HP:0000272	Malar flattening	51085	MLXIPL	OMIM:194050
HP:0000272	Malar flattening	124583	CANT1	OMIM:251450
HP:0000272	Malar flattening	3187	HNRNPH1	OMIM:620083
HP:0000272	Malar flattening	4920	ROR2	OMIM:268310
HP:0000272	Malar flattening	3835	KIF22	OMIM:603546
HP:0000272	Malar flattening	7030	TFE3	OMIM:301066
HP:0000272	Malar flattening	3339	HSPG2	OMIM:224410
HP:0000272	Malar flattening	3339	HSPG2	OMIM:255800
HP:0000272	Malar flattening	10743	RAI1	OMIM:182290
HP:0000272	Malar flattening	6949	TCOF1	OMIM:154500
HP:0000272	Malar flattening	6949	TCOF1	ORPHA:861
HP:0000272	Malar flattening	27086	FOXP1	OMIM:613670
HP:0000272	Malar flattening	546	ATRX	OMIM:309580
HP:0000272	Malar flattening	546	ATRX	OMIM:301040
HP:0000272	Malar flattening	10735	STAG2	ORPHA:521258
HP:0000272	Malar flattening	5818	NECTIN1	OMIM:225060
HP:0000272	Malar flattening	23483	TGDS	ORPHA:1388
HP:0000272	Malar flattening	2260	FGFR1	OMIM:166250
HP:0000272	Malar flattening	2260	FGFR1	OMIM:123150
HP:0000272	Malar flattening	22930	RAB3GAP1	ORPHA:1387
HP:0000272	Malar flattening	25782	RAB3GAP2	ORPHA:1387
HP:0000272	Malar flattening	4088	SMAD3	OMIM:613795
HP:0000272	Malar flattening	4088	SMAD3	ORPHA:60030
HP:0000272	Malar flattening	4088	SMAD3	ORPHA:284984
HP:0000272	Malar flattening	7048	TGFBR2	OMIM:610168
HP:0000272	Malar flattening	7048	TGFBR2	ORPHA:60030
HP:0000272	Malar flattening	51574	LARP7	ORPHA:319671
HP:0000272	Malar flattening	51574	LARP7	OMIM:615071
HP:0000272	Malar flattening	147372	CCBE1	OMIM:235510
HP:0000272	Malar flattening	50945	TBX22	ORPHA:921
HP:0000272	Malar flattening	701	BUB1B	OMIM:257300
HP:0000272	Malar flattening	10682	EBP	OMIM:302960
HP:0000272	Malar flattening	8626	TP63	ORPHA:69085
HP:0000272	Malar flattening	8626	TP63	OMIM:604292
HP:0000272	Malar flattening	4883	NPR3	OMIM:619543
HP:0000272	Malar flattening	55212	BBS7	OMIM:615984
HP:0000272	Malar flattening	2703	GJA8	OMIM:612474
HP:0000272	Malar flattening	2702	GJA5	OMIM:612474
HP:0000272	Malar flattening	7046	TGFBR1	ORPHA:60030
HP:0000272	Malar flattening	7046	TGFBR1	OMIM:609192
HP:0000272	Malar flattening	10526	IPO8	ORPHA:60030
HP:0000272	Malar flattening	7042	TGFB2	ORPHA:60030
HP:0000272	Malar flattening	7042	TGFB2	OMIM:614816
HP:0000272	Malar flattening	7043	TGFB3	ORPHA:60030
HP:0000272	Malar flattening	4087	SMAD2	ORPHA:60030
HP:0000272	Malar flattening	9533	POLR1C	OMIM:248390
HP:0000272	Malar flattening	9533	POLR1C	ORPHA:861
HP:0000272	Malar flattening	1297	COL9A1	ORPHA:250984
HP:0000272	Malar flattening	1298	COL9A2	ORPHA:250984
HP:0000272	Malar flattening	1299	COL9A3	ORPHA:250984
HP:0000272	Malar flattening	78987	CRELD1	OMIM:620771
HP:0000272	Malar flattening	84181	CHD6	ORPHA:2108
HP:0000272	Malar flattening	4921	DDR2	OMIM:271665
HP:0000272	Malar flattening	8925	HERC1	OMIM:617011
HP:0000272	Malar flattening	8925	HERC1	ORPHA:457359
HP:0000272	Malar flattening	5193	PEX12	OMIM:266510
HP:0000272	Malar flattening	65062	TMEM237	OMIM:614424
HP:0000272	Malar flattening	89970	RSPRY1	OMIM:616723
HP:0000272	Malar flattening	89970	RSPRY1	ORPHA:457395
HP:0000272	Malar flattening	23363	OBSL1	OMIM:612921
HP:0000272	Malar flattening	85358	SHANK3	OMIM:606232
HP:0000272	Malar flattening	50814	NSDHL	ORPHA:251383
HP:0000272	Malar flattening	50814	NSDHL	OMIM:300831
HP:0000272	Malar flattening	5745	PTH1R	OMIM:215045
HP:0000272	Malar flattening	5745	PTH1R	ORPHA:50945
HP:0000272	Malar flattening	128869	PIGU	OMIM:618590
HP:0000272	Malar flattening	650	BMP2	ORPHA:261295
HP:0000272	Malar flattening	91179	SCARF2	OMIM:600920
HP:0000272	Malar flattening	4854	NOTCH3	OMIM:130720
HP:0000272	Malar flattening	4854	NOTCH3	ORPHA:2789
HP:0000272	Malar flattening	1289	COL5A1	OMIM:619329
HP:0000272	Malar flattening	176	ACAN	OMIM:612813
HP:0000272	Malar flattening	4750	NEK1	OMIM:252100
HP:0000272	Malar flattening	56975	FAM20C	OMIM:259775
HP:0000272	Malar flattening	4763	NF1	OMIM:601321
HP:0000272	Malar flattening	4763	NF1	ORPHA:139474
HP:0000272	Malar flattening	90161	HS6ST2	OMIM:301025
HP:0000272	Malar flattening	1741	DLG3	OMIM:300850
HP:0000272	Malar flattening	3039	HBA1	ORPHA:98791
HP:0000272	Malar flattening	3040	HBA2	ORPHA:98791
HP:0000272	Malar flattening	4621	MYH3	OMIM:193700
HP:0000272	Malar flattening	51132	RLIM	OMIM:300978
HP:0000272	Malar flattening	4125	MAN2B1	OMIM:248500
HP:0000272	Malar flattening	54496	PRMT7	OMIM:617157
HP:0000272	Malar flattening	10082	GPC6	OMIM:258315
HP:0000272	Malar flattening	5831	PYCR1	OMIM:612940
HP:0000272	Malar flattening	5831	PYCR1	ORPHA:2078
HP:0000272	Malar flattening	9820	CUL7	OMIM:273750
HP:0000272	Malar flattening	92344	GORAB	OMIM:231070
HP:0000272	Malar flattening	92344	GORAB	ORPHA:2078
HP:0000272	Malar flattening	3759	KCNJ2	OMIM:170390
HP:0000272	Malar flattening	1312	COMT	ORPHA:567
HP:0000272	Malar flattening	221037	JMJD1C	ORPHA:567
HP:0000272	Malar flattening	2812	GP1BB	ORPHA:567
HP:0000272	Malar flattening	6239	RREB1	ORPHA:567
HP:0000272	Malar flattening	6899	TBX1	ORPHA:567
HP:0000272	Malar flattening	7290	HIRA	ORPHA:567
HP:0000272	Malar flattening	9632	SEC24C	ORPHA:567
HP:0000272	Malar flattening	7353	UFD1	ORPHA:567
HP:0000272	Malar flattening	421	ARVCF	ORPHA:567
HP:0000272	Malar flattening	1009	CDH11	OMIM:211380
HP:0000272	Malar flattening	6898	TAT	ORPHA:28378
HP:0000272	Malar flattening	444	ASPH	OMIM:601552
HP:0000272	Malar flattening	6469	SHH	OMIM:142945
HP:0000272	Malar flattening	7703	PCGF2	OMIM:618371
HP:0000272	Malar flattening	7319	UBE2A	OMIM:300860
HP:0000272	Malar flattening	1277	COL1A1	OMIM:130060
HP:0000272	Malar flattening	9496	TBX4	ORPHA:261279
HP:0000272	Malar flattening	633	BGN	OMIM:300989
HP:0000272	Malar flattening	3977	LIFR	OMIM:601559
HP:0000272	Malar flattening	5277	PIGA	OMIM:300868
HP:0000272	Malar flattening	8985	PLOD3	OMIM:612394
HP:0000272	Malar flattening	79633	FAT4	OMIM:615546
HP:0000272	Malar flattening	9343	EFTUD2	OMIM:610536
HP:0000272	Malar flattening	9343	EFTUD2	ORPHA:79113
HP:0000272	Malar flattening	84172	POLR1B	OMIM:618939
HP:0000272	Malar flattening	84172	POLR1B	ORPHA:861
HP:0000272	Malar flattening	64864	RFX7	OMIM:620330
HP:0000272	Malar flattening	6628	SNRPB	OMIM:117650
HP:0000272	Malar flattening	2892	GRIA3	ORPHA:364028
HP:0000272	Malar flattening	51604	PIGT	ORPHA:369837
HP:0000272	Malar flattening	5702	PSMC3	OMIM:619354
HP:0000272	Malar flattening	4796	TONSL	OMIM:271510
HP:0000272	Malar flattening	23545	ATP6V0A2	OMIM:219200
HP:0000272	Malar flattening	23545	ATP6V0A2	ORPHA:357074
HP:0000272	Malar flattening	23630	KCNE5	ORPHA:86818
HP:0000272	Malar flattening	2182	ACSL4	ORPHA:86818
HP:0000272	Malar flattening	9949	AMMECR1	ORPHA:86818
HP:0000272	Malar flattening	51082	POLR1D	ORPHA:861
HP:0000272	Malar flattening	51082	POLR1D	OMIM:613717
HP:0000272	Malar flattening	4841	NONO	OMIM:300967
HP:0000272	Malar flattening	4841	NONO	ORPHA:466791
HP:0000272	Malar flattening	51715	RAB23	OMIM:201000
HP:0000272	Malar flattening	25839	COG4	ORPHA:85172
HP:0000272	Malar flattening	3756	KCNH1	ORPHA:420561
HP:0000272	Malar flattening	126792	B3GALT6	OMIM:271640
HP:0000272	Malar flattening	9759	HDAC4	OMIM:600430
HP:0000272	Malar flattening	4094	MAF	OMIM:601088
HP:0000272	Malar flattening	5295	PIK3R1	ORPHA:3163
HP:0000272	Malar flattening	4256	MGP	OMIM:245150
HP:0000272	Malar flattening	523	ATP6V1A	ORPHA:357074
HP:0000272	Malar flattening	529	ATP6V1E1	ORPHA:357074
HP:0000272	Malar flattening	529	ATP6V1E1	OMIM:617402
HP:0000272	Malar flattening	29920	PYCR2	OMIM:616420
HP:0000272	Malar flattening	178	AGL	OMIM:232400
HP:0000272	Malar flattening	100151683	RNU4ATAC	ORPHA:2636
HP:0000272	Malar flattening	387	RHOA	OMIM:618727
HP:0000272	Malar flattening	5449	POU1F1	OMIM:613038
HP:0000272	Malar flattening	4693	NDP	ORPHA:649
HP:0000272	Malar flattening	9939	RBM8A	OMIM:274000
HP:0000272	Malar flattening	6496	SIX3	OMIM:157170
HP:0000272	Malar flattening	7474	WNT5A	OMIM:180700
HP:0000272	Malar flattening	1855	DVL1	OMIM:180700
HP:0000272	Malar flattening	9130	FAM50A	OMIM:300261
HP:0000272	Malar flattening	4204	MECP2	OMIM:300260
HP:0000272	Malar flattening	7543	ZFX	OMIM:301118
HP:0000272	Malar flattening	2535	FZD2	ORPHA:93328
HP:0000272	Malar flattening	5077	PAX3	OMIM:122880
HP:0000272	Malar flattening	871	SERPINH1	OMIM:613848
HP:0001999	Abnormal facial shape	9469	CHST3	OMIM:245600
HP:0001999	Abnormal facial shape	26229	B3GAT3	OMIM:245600
HP:0001999	Abnormal facial shape	3643	INSR	OMIM:246200
HP:0001999	Abnormal facial shape	1663	DDX11	OMIM:613398
HP:0001999	Abnormal facial shape	84168	ANTXR1	OMIM:230740
HP:0001999	Abnormal facial shape	22907	DHX30	OMIM:617804
HP:0001999	Abnormal facial shape	6328	SCN3A	OMIM:617935
HP:0001999	Abnormal facial shape	6662	SOX9	OMIM:114290
HP:0001999	Abnormal facial shape	4929	NR4A2	ORPHA:1617
HP:0001999	Abnormal facial shape	10716	TBR1	ORPHA:1617
HP:0001999	Abnormal facial shape	6535	SLC6A8	OMIM:300352
HP:0001999	Abnormal facial shape	26235	FBXL4	OMIM:615471
HP:0001999	Abnormal facial shape	538	ATP7A	OMIM:304150
HP:0001999	Abnormal facial shape	50814	NSDHL	ORPHA:251383
HP:0001999	Abnormal facial shape	50814	NSDHL	OMIM:300831
HP:0001999	Abnormal facial shape	2202	EFEMP1	OMIM:620780
HP:0001999	Abnormal facial shape	10479	SLC9A6	OMIM:300243
HP:0001999	Abnormal facial shape	10479	SLC9A6	ORPHA:85278
HP:0001999	Abnormal facial shape	58	ACTA1	ORPHA:171436
HP:0001999	Abnormal facial shape	58	ACTA1	OMIM:620278
HP:0001999	Abnormal facial shape	58	ACTA1	ORPHA:171439
HP:0001999	Abnormal facial shape	7169	TPM2	ORPHA:171436
HP:0001999	Abnormal facial shape	7169	TPM2	ORPHA:1147
HP:0001999	Abnormal facial shape	7169	TPM2	ORPHA:171439
HP:0001999	Abnormal facial shape	4703	NEB	ORPHA:171436
HP:0001999	Abnormal facial shape	4703	NEB	ORPHA:171439
HP:0001999	Abnormal facial shape	10324	KLHL41	ORPHA:171436
HP:0001999	Abnormal facial shape	10324	KLHL41	ORPHA:171439
HP:0001999	Abnormal facial shape	56203	LMOD3	ORPHA:171436
HP:0001999	Abnormal facial shape	1073	CFL2	ORPHA:171436
HP:0001999	Abnormal facial shape	89910	UBE3B	OMIM:244450
HP:0001999	Abnormal facial shape	89910	UBE3B	ORPHA:2707
HP:0001999	Abnormal facial shape	6263	RYR3	OMIM:620310
HP:0001999	Abnormal facial shape	51114	ZDHHC9	ORPHA:776
HP:0001999	Abnormal facial shape	65109	UPF3B	ORPHA:776
HP:0001999	Abnormal facial shape	65109	UPF3B	OMIM:300676
HP:0001999	Abnormal facial shape	25778	DSTYK	OMIM:270750
HP:0001999	Abnormal facial shape	4810	NHS	OMIM:302350
HP:0001999	Abnormal facial shape	7102	TSPAN7	OMIM:300210
HP:0001999	Abnormal facial shape	51132	RLIM	OMIM:300978
HP:0001999	Abnormal facial shape	9401	RECQL4	ORPHA:1225
HP:0001999	Abnormal facial shape	7170	TPM3	OMIM:609284
HP:0001999	Abnormal facial shape	7170	TPM3	OMIM:255310
HP:0001999	Abnormal facial shape	7170	TPM3	ORPHA:171439
HP:0001999	Abnormal facial shape	54880	BCOR	ORPHA:2712
HP:0001999	Abnormal facial shape	54880	BCOR	OMIM:300166
HP:0001999	Abnormal facial shape	4854	NOTCH3	ORPHA:2789
HP:0001999	Abnormal facial shape	51715	RAB23	ORPHA:65759
HP:0001999	Abnormal facial shape	1954	MEGF8	ORPHA:65759
HP:0001999	Abnormal facial shape	54888	NSUN2	ORPHA:235
HP:0001999	Abnormal facial shape	54888	NSUN2	OMIM:611091
HP:0001999	Abnormal facial shape	55768	NGLY1	OMIM:615273
HP:0001999	Abnormal facial shape	10367	MICU1	OMIM:615673
HP:0001999	Abnormal facial shape	80152	CENPT	OMIM:618702
HP:0001999	Abnormal facial shape	80781	COL18A1	OMIM:267750
HP:0001999	Abnormal facial shape	63932	STEEP1	OMIM:301013
HP:0001999	Abnormal facial shape	10293	TRAIP	OMIM:616777
HP:0001999	Abnormal facial shape	10293	TRAIP	ORPHA:808
HP:0001999	Abnormal facial shape	641	BLM	OMIM:210900
HP:0001999	Abnormal facial shape	641	BLM	ORPHA:125
HP:0001999	Abnormal facial shape	84665	MYPN	ORPHA:171439
HP:0001999	Abnormal facial shape	390594	KBTBD13	ORPHA:171439
HP:0001999	Abnormal facial shape	5116	PCNT	ORPHA:808
HP:0001999	Abnormal facial shape	5932	RBBP8	ORPHA:808
HP:0001999	Abnormal facial shape	79902	NUP85	ORPHA:808
HP:0001999	Abnormal facial shape	84126	ATRIP	ORPHA:808
HP:0001999	Abnormal facial shape	1763	DNA2	ORPHA:808
HP:0001999	Abnormal facial shape	10733	PLK4	ORPHA:808
HP:0001999	Abnormal facial shape	6567	SLC16A2	ORPHA:59
HP:0001999	Abnormal facial shape	1140	CHRNB1	OMIM:616313
HP:0001999	Abnormal facial shape	10382	TUBB4A	OMIM:128101
HP:0001999	Abnormal facial shape	283450	HECTD4	OMIM:620250
HP:0001999	Abnormal facial shape	1145	CHRNE	OMIM:608931
HP:0001999	Abnormal facial shape	2673	GFPT1	OMIM:608931
HP:0001999	Abnormal facial shape	324	APC	ORPHA:261584
HP:0001999	Abnormal facial shape	9853	RUSC2	OMIM:617773
HP:0001999	Abnormal facial shape	5913	RAPSN	OMIM:616326
HP:0001999	Abnormal facial shape	91801	ALKBH8	OMIM:618504
HP:0001999	Abnormal facial shape	3703	STT3A	OMIM:619714
HP:0001999	Abnormal facial shape	7138	TNNT1	OMIM:620389
HP:0001999	Abnormal facial shape	5457	POU4F1	ORPHA:314647
HP:0001999	Abnormal facial shape	23261	CAMTA1	ORPHA:314647
HP:0001999	Abnormal facial shape	23261	CAMTA1	OMIM:614756
HP:0001999	Abnormal facial shape	9578	CDC42BPB	OMIM:619841
HP:0001999	Abnormal facial shape	7552	ZNF711	OMIM:300803
HP:0001999	Abnormal facial shape	283489	CHAMP1	OMIM:616579
HP:0001999	Abnormal facial shape	10026	PIGK	OMIM:618879
HP:0001999	Abnormal facial shape	23322	RPGRIP1L	ORPHA:220497
HP:0001999	Abnormal facial shape	23322	RPGRIP1L	ORPHA:1454
HP:0001999	Abnormal facial shape	4867	NPHP1	ORPHA:220497
HP:0001999	Abnormal facial shape	65062	TMEM237	ORPHA:220497
HP:0001999	Abnormal facial shape	65062	TMEM237	ORPHA:475
HP:0001999	Abnormal facial shape	65062	TMEM237	ORPHA:2318
HP:0001999	Abnormal facial shape	54806	AHI1	ORPHA:220493
HP:0001999	Abnormal facial shape	54806	AHI1	ORPHA:475
HP:0001999	Abnormal facial shape	56623	INPP5E	ORPHA:220493
HP:0001999	Abnormal facial shape	56623	INPP5E	ORPHA:475
HP:0001999	Abnormal facial shape	56623	INPP5E	ORPHA:1454
HP:0001999	Abnormal facial shape	54903	MKS1	ORPHA:220493
HP:0001999	Abnormal facial shape	54903	MKS1	ORPHA:475
HP:0001999	Abnormal facial shape	95681	CEP41	ORPHA:220493
HP:0001999	Abnormal facial shape	95681	CEP41	ORPHA:475
HP:0001999	Abnormal facial shape	29072	SETD2	OMIM:620157
HP:0001999	Abnormal facial shape	29072	SETD2	OMIM:620155
HP:0001999	Abnormal facial shape	29072	SETD2	OMIM:616831
HP:0001999	Abnormal facial shape	57589	RIC1	OMIM:618761
HP:0001999	Abnormal facial shape	2590	GALNT2	OMIM:618885
HP:0001999	Abnormal facial shape	55154	MSTO1	OMIM:617675
HP:0001999	Abnormal facial shape	55154	MSTO1	ORPHA:502423
HP:0001999	Abnormal facial shape	56172	ANKH	OMIM:123000
HP:0001999	Abnormal facial shape	57190	SELENON	ORPHA:2020
HP:0001999	Abnormal facial shape	4633	MYL2	ORPHA:2020
HP:0001999	Abnormal facial shape	3679	ITGA7	ORPHA:2020
HP:0001999	Abnormal facial shape	9200	HACD1	ORPHA:2020
HP:0001999	Abnormal facial shape	51776	MAP3K20	ORPHA:2020
HP:0001999	Abnormal facial shape	84504	NKX6-2	OMIM:617560
HP:0001999	Abnormal facial shape	4338	MOCS2	OMIM:252160
HP:0001999	Abnormal facial shape	79600	TCTN1	ORPHA:475
HP:0001999	Abnormal facial shape	79848	CSPP1	ORPHA:475
HP:0001999	Abnormal facial shape	65250	CPLANE1	ORPHA:475
HP:0001999	Abnormal facial shape	65250	CPLANE1	ORPHA:2754
HP:0001999	Abnormal facial shape	200894	ARL13B	ORPHA:475
HP:0001999	Abnormal facial shape	9731	CEP104	ORPHA:475
HP:0001999	Abnormal facial shape	219844	HYLS1	ORPHA:475
HP:0001999	Abnormal facial shape	23247	KATNIP	ORPHA:475
HP:0001999	Abnormal facial shape	219854	TMEM218	ORPHA:475
HP:0001999	Abnormal facial shape	9786	KIAA0586	ORPHA:475
HP:0001999	Abnormal facial shape	26123	TCTN3	ORPHA:475
HP:0001999	Abnormal facial shape	26123	TCTN3	ORPHA:2754
HP:0001999	Abnormal facial shape	79867	TCTN2	ORPHA:475
HP:0001999	Abnormal facial shape	80776	B9D2	ORPHA:475
HP:0001999	Abnormal facial shape	10464	PIBF1	ORPHA:475
HP:0001999	Abnormal facial shape	80210	ARMC9	ORPHA:475
HP:0001999	Abnormal facial shape	23116	TOGARAM1	ORPHA:475
HP:0001999	Abnormal facial shape	25776	CBY1	ORPHA:475
HP:0001999	Abnormal facial shape	403	ARL3	ORPHA:475
HP:0001999	Abnormal facial shape	80173	IFT74	ORPHA:475
HP:0001999	Abnormal facial shape	6445	SGCG	ORPHA:353
HP:0001999	Abnormal facial shape	1182	CLCN3	OMIM:619512
HP:0001999	Abnormal facial shape	51633	OTUD6B	OMIM:617452
HP:0001999	Abnormal facial shape	51633	OTUD6B	ORPHA:505237
HP:0001999	Abnormal facial shape	57282	SLC4A10	OMIM:620746
HP:0001999	Abnormal facial shape	51692	CPSF3	OMIM:619876
HP:0001999	Abnormal facial shape	81031	SLC2A10	ORPHA:3342
HP:0001999	Abnormal facial shape	81031	SLC2A10	OMIM:208050
HP:0001999	Abnormal facial shape	23345	SYNE1	ORPHA:319332
HP:0001999	Abnormal facial shape	55719	SLF2	OMIM:620184
HP:0001999	Abnormal facial shape	2248	FGF3	OMIM:610706
HP:0001999	Abnormal facial shape	2248	FGF3	ORPHA:2791
HP:0001999	Abnormal facial shape	2248	FGF3	ORPHA:90024
HP:0001999	Abnormal facial shape	55210	ATAD3A	ORPHA:496790
HP:0001999	Abnormal facial shape	55210	ATAD3A	OMIM:617183
HP:0001999	Abnormal facial shape	54828	BCAS3	OMIM:619641
HP:0001999	Abnormal facial shape	56098	PCDHGC4	OMIM:619880
HP:0001999	Abnormal facial shape	4256	MGP	ORPHA:85202
HP:0001999	Abnormal facial shape	4256	MGP	OMIM:245150
HP:0001999	Abnormal facial shape	6942	TCF20	OMIM:618430
HP:0001999	Abnormal facial shape	200424	TET3	OMIM:618798
HP:0001999	Abnormal facial shape	51244	CCDC174	OMIM:616816
HP:0001999	Abnormal facial shape	3187	HNRNPH1	OMIM:620083
HP:0001999	Abnormal facial shape	9342	SNAP29	OMIM:609528
HP:0001999	Abnormal facial shape	9342	SNAP29	ORPHA:66631
HP:0001999	Abnormal facial shape	254065	BRWD3	OMIM:300659
HP:0001999	Abnormal facial shape	4088	SMAD3	OMIM:613795
HP:0001999	Abnormal facial shape	4088	SMAD3	ORPHA:284984
HP:0001999	Abnormal facial shape	4087	SMAD2	OMIM:619656
HP:0001999	Abnormal facial shape	4087	SMAD2	OMIM:619657
HP:0001999	Abnormal facial shape	7476	WNT7A	OMIM:276820
HP:0001999	Abnormal facial shape	171023	ASXL1	OMIM:605039
HP:0001999	Abnormal facial shape	10533	ATG7	OMIM:619422
HP:0001999	Abnormal facial shape	1523	CUX1	OMIM:618330
HP:0001999	Abnormal facial shape	4212	MEIS2	ORPHA:261190
HP:0001999	Abnormal facial shape	79912	PYROXD1	OMIM:617258
HP:0001999	Abnormal facial shape	83548	COG3	OMIM:620546
HP:0001999	Abnormal facial shape	4076	CAPRIN1	OMIM:620782
HP:0001999	Abnormal facial shape	128869	PIGU	OMIM:618590
HP:0001999	Abnormal facial shape	4952	OCRL	ORPHA:534
HP:0001999	Abnormal facial shape	84679	SLC9A7	OMIM:301024
HP:0001999	Abnormal facial shape	79583	TMEM231	ORPHA:2318
HP:0001999	Abnormal facial shape	79583	TMEM231	ORPHA:2754
HP:0001999	Abnormal facial shape	51524	TMEM138	ORPHA:2318
HP:0001999	Abnormal facial shape	23090	ZNF423	ORPHA:2318
HP:0001999	Abnormal facial shape	80184	CEP290	ORPHA:2318
HP:0001999	Abnormal facial shape	51259	TMEM216	ORPHA:2318
HP:0001999	Abnormal facial shape	51259	TMEM216	ORPHA:2754
HP:0001999	Abnormal facial shape	57545	CC2D2A	ORPHA:2318
HP:0001999	Abnormal facial shape	57545	CC2D2A	ORPHA:1454
HP:0001999	Abnormal facial shape	7703	PCGF2	OMIM:618371
HP:0001999	Abnormal facial shape	5422	POLA1	OMIM:301030
HP:0001999	Abnormal facial shape	79576	NKAP	OMIM:301039
HP:0001999	Abnormal facial shape	116442	RAB39B	OMIM:300271
HP:0001999	Abnormal facial shape	9757	KMT2B	ORPHA:589618
HP:0001999	Abnormal facial shape	4337	MOCS1	OMIM:252150
HP:0001999	Abnormal facial shape	51002	TPRKB	OMIM:617731
HP:0001999	Abnormal facial shape	51305	KCNK9	OMIM:612292
HP:0001999	Abnormal facial shape	5058	PAK1	OMIM:618158
HP:0001999	Abnormal facial shape	91875	TTC5	OMIM:619244
HP:0001999	Abnormal facial shape	60482	SLC5A7	ORPHA:98914
HP:0001999	Abnormal facial shape	4649	MYO9A	ORPHA:98914
HP:0001999	Abnormal facial shape	1305	COL13A1	ORPHA:98914
HP:0001999	Abnormal facial shape	1103	CHAT	ORPHA:98914
HP:0001999	Abnormal facial shape	6576	SLC25A1	ORPHA:98914
HP:0001999	Abnormal facial shape	6843	VAMP1	ORPHA:98914
HP:0001999	Abnormal facial shape	375790	AGRN	ORPHA:98914
HP:0001999	Abnormal facial shape	127833	SYT2	ORPHA:98914
HP:0001999	Abnormal facial shape	6572	SLC18A3	ORPHA:98914
HP:0001999	Abnormal facial shape	6616	SNAP25	ORPHA:98914
HP:0001999	Abnormal facial shape	6329	SCN4A	OMIM:620351
HP:0001999	Abnormal facial shape	6329	SCN4A	OMIM:620369
HP:0001999	Abnormal facial shape	113246	C12orf57	OMIM:218340
HP:0001999	Abnormal facial shape	55252	ASXL2	OMIM:617190
HP:0001999	Abnormal facial shape	4781	NFIB	OMIM:618286
HP:0001999	Abnormal facial shape	23133	PHF8	ORPHA:85287
HP:0001999	Abnormal facial shape	23133	PHF8	OMIM:300263
HP:0001999	Abnormal facial shape	11043	MID2	OMIM:300928
HP:0001999	Abnormal facial shape	10210	TOPORS	ORPHA:2754
HP:0001999	Abnormal facial shape	317662	FAM149B1	ORPHA:2754
HP:0001999	Abnormal facial shape	1795	DOCK3	OMIM:618292
HP:0001999	Abnormal facial shape	11011	TLK2	OMIM:618050
HP:0001999	Abnormal facial shape	2902	GRIN1	OMIM:614254
HP:0001999	Abnormal facial shape	5567	PRKACB	OMIM:619143
HP:0001999	Abnormal facial shape	4921	DDR2	OMIM:618175
HP:0001999	Abnormal facial shape	7043	TGFB3	OMIM:615582
HP:0001999	Abnormal facial shape	5052	PRDX1	OMIM:277400
HP:0001999	Abnormal facial shape	199857	ALG14	OMIM:619031
HP:0001999	Abnormal facial shape	8450	CUL4B	OMIM:300354
HP:0001999	Abnormal facial shape	9131	AIFM1	OMIM:300232
HP:0001999	Abnormal facial shape	27316	RBMX	OMIM:300238
HP:0001999	Abnormal facial shape	27316	RBMX	ORPHA:85286
HP:0001999	Abnormal facial shape	8367	H4C5	OMIM:619950
HP:0001999	Abnormal facial shape	51256	TBC1D7	OMIM:248000
HP:0001999	Abnormal facial shape	1183	CLCN4	OMIM:300114
HP:0001999	Abnormal facial shape	2132	EXT2	OMIM:616682
HP:0001999	Abnormal facial shape	23241	PACS2	OMIM:618067
HP:0001999	Abnormal facial shape	23135	KDM6B	OMIM:618505
HP:0001999	Abnormal facial shape	3145	HMBS	OMIM:620704
HP:0001999	Abnormal facial shape	23556	PIGN	ORPHA:2059
HP:0001999	Abnormal facial shape	23556	PIGN	OMIM:614080
HP:0001999	Abnormal facial shape	23556	PIGN	ORPHA:280633
HP:0001999	Abnormal facial shape	55823	VPS11	ORPHA:466934
HP:0001999	Abnormal facial shape	9231	DLG5	OMIM:620703
HP:0001999	Abnormal facial shape	673	BRAF	OMIM:115150
HP:0001999	Abnormal facial shape	673	BRAF	ORPHA:1340
HP:0001999	Abnormal facial shape	4897	NRCAM	OMIM:619833
HP:0001999	Abnormal facial shape	118429	ANTXR2	ORPHA:2176
HP:0001999	Abnormal facial shape	118429	ANTXR2	OMIM:228600
HP:0001999	Abnormal facial shape	55777	MBD5	ORPHA:228402
HP:0001999	Abnormal facial shape	1788	DNMT3A	ORPHA:404443
HP:0001999	Abnormal facial shape	4758	NEU1	OMIM:256550
HP:0001999	Abnormal facial shape	4758	NEU1	ORPHA:93399
HP:0001999	Abnormal facial shape	4758	NEU1	ORPHA:812
HP:0001999	Abnormal facial shape	4758	NEU1	ORPHA:93400
HP:0001999	Abnormal facial shape	64324	NSD1	ORPHA:821
HP:0001999	Abnormal facial shape	10297	APC2	ORPHA:821
HP:0001999	Abnormal facial shape	3190	HNRNPK	ORPHA:453504
HP:0001999	Abnormal facial shape	3190	HNRNPK	ORPHA:352665
HP:0001999	Abnormal facial shape	4125	MAN2B1	ORPHA:309282
HP:0001999	Abnormal facial shape	4125	MAN2B1	OMIM:248500
HP:0001999	Abnormal facial shape	80232	WDR26	ORPHA:513456
HP:0001999	Abnormal facial shape	80232	WDR26	OMIM:617616
HP:0001999	Abnormal facial shape	170302	ARX	OMIM:300004
HP:0001999	Abnormal facial shape	170302	ARX	ORPHA:2508
HP:0001999	Abnormal facial shape	65993	MRPS34	OMIM:617664
HP:0001999	Abnormal facial shape	79639	TMEM53	OMIM:619727
HP:0001999	Abnormal facial shape	65082	VPS33A	OMIM:617303
HP:0001999	Abnormal facial shape	65082	VPS33A	ORPHA:505248
HP:0001999	Abnormal facial shape	54681	P4HTM	ORPHA:436141
HP:0001999	Abnormal facial shape	54681	P4HTM	OMIM:618493
HP:0001999	Abnormal facial shape	2314	FLII	ORPHA:819
HP:0001999	Abnormal facial shape	23096	IQSEC2	ORPHA:819
HP:0001999	Abnormal facial shape	10522	DEAF1	ORPHA:819
HP:0001999	Abnormal facial shape	23431	AP4E1	OMIM:613744
HP:0001999	Abnormal facial shape	23431	AP4E1	ORPHA:280763
HP:0001999	Abnormal facial shape	3764	KCNJ8	ORPHA:1517
HP:0001999	Abnormal facial shape	10060	ABCC9	ORPHA:1517
HP:0001999	Abnormal facial shape	10060	ABCC9	OMIM:239850
HP:0001999	Abnormal facial shape	79158	GNPTAB	OMIM:252500
HP:0001999	Abnormal facial shape	79158	GNPTAB	OMIM:252600
HP:0001999	Abnormal facial shape	79158	GNPTAB	ORPHA:423461
HP:0001999	Abnormal facial shape	79158	GNPTAB	ORPHA:576
HP:0001999	Abnormal facial shape	5476	CTSA	OMIM:256540
HP:0001999	Abnormal facial shape	5476	CTSA	ORPHA:351
HP:0001999	Abnormal facial shape	57231	SNX14	ORPHA:397709
HP:0001999	Abnormal facial shape	57231	SNX14	OMIM:616354
HP:0001999	Abnormal facial shape	50964	SOST	ORPHA:1513
HP:0001999	Abnormal facial shape	121340	SP7	ORPHA:1513
HP:0001999	Abnormal facial shape	6197	RPS6KA3	OMIM:303600
HP:0001999	Abnormal facial shape	6197	RPS6KA3	ORPHA:192
HP:0001999	Abnormal facial shape	84572	GNPTG	OMIM:252605
HP:0001999	Abnormal facial shape	3074	HEXB	ORPHA:309155
HP:0001999	Abnormal facial shape	3074	HEXB	OMIM:268800
HP:0001999	Abnormal facial shape	54453	RIN2	OMIM:613075
HP:0001999	Abnormal facial shape	54453	RIN2	ORPHA:217335
HP:0001999	Abnormal facial shape	80204	FBXO11	OMIM:618089
HP:0001999	Abnormal facial shape	23522	KAT6B	OMIM:606170
HP:0001999	Abnormal facial shape	23522	KAT6B	ORPHA:85201
HP:0001999	Abnormal facial shape	3423	IDS	ORPHA:217085
HP:0001999	Abnormal facial shape	3423	IDS	OMIM:309900
HP:0001999	Abnormal facial shape	3423	IDS	ORPHA:217093
HP:0001999	Abnormal facial shape	83550	GPR101	ORPHA:963
HP:0001999	Abnormal facial shape	83550	GPR101	OMIM:300942
HP:0001999	Abnormal facial shape	9049	AIP	ORPHA:963
HP:0001999	Abnormal facial shape	9049	AIP	OMIM:102200
HP:0001999	Abnormal facial shape	9049	AIP	ORPHA:99725
HP:0001999	Abnormal facial shape	83480	PUS3	ORPHA:488627
HP:0001999	Abnormal facial shape	83480	PUS3	OMIM:617051
HP:0001999	Abnormal facial shape	8546	AP3B1	OMIM:608233
HP:0001999	Abnormal facial shape	1193	CLIC2	ORPHA:324410
HP:0001999	Abnormal facial shape	23461	ABCA5	ORPHA:2026
HP:0001999	Abnormal facial shape	200734	SPRED2	OMIM:619745
HP:0001999	Abnormal facial shape	3782	KCNN3	OMIM:618658
HP:0001999	Abnormal facial shape	3425	IDUA	OMIM:607014
HP:0001999	Abnormal facial shape	3425	IDUA	ORPHA:93474
HP:0001999	Abnormal facial shape	3425	IDUA	ORPHA:93473
HP:0001999	Abnormal facial shape	3425	IDUA	ORPHA:93476
HP:0001999	Abnormal facial shape	26040	SETBP1	OMIM:269150
HP:0001999	Abnormal facial shape	26040	SETBP1	ORPHA:798
HP:0001999	Abnormal facial shape	3265	HRAS	OMIM:218040
HP:0001999	Abnormal facial shape	3265	HRAS	ORPHA:3071
HP:0001999	Abnormal facial shape	9653	HS2ST1	OMIM:619194
HP:0001999	Abnormal facial shape	1267	CNP	OMIM:619071
HP:0001999	Abnormal facial shape	1280	COL2A1	OMIM:151210
HP:0001999	Abnormal facial shape	1280	COL2A1	ORPHA:94068
HP:0001999	Abnormal facial shape	1280	COL2A1	ORPHA:93346
HP:0001999	Abnormal facial shape	10717	AP4B1	OMIM:614066
HP:0001999	Abnormal facial shape	10717	AP4B1	ORPHA:280763
HP:0001999	Abnormal facial shape	11154	AP4S1	OMIM:614067
HP:0001999	Abnormal facial shape	11154	AP4S1	ORPHA:280763
HP:0001999	Abnormal facial shape	27125	AFF4	OMIM:616368
HP:0001999	Abnormal facial shape	9255	AIMP1	OMIM:260600
HP:0001999	Abnormal facial shape	6804	STX1A	ORPHA:904
HP:0001999	Abnormal facial shape	7461	CLIP2	ORPHA:904
HP:0001999	Abnormal facial shape	84277	DNAJC30	ORPHA:904
HP:0001999	Abnormal facial shape	8468	FKBP6	ORPHA:904
HP:0001999	Abnormal facial shape	5982	RFC2	ORPHA:904
HP:0001999	Abnormal facial shape	2969	GTF2I	ORPHA:904
HP:0001999	Abnormal facial shape	3984	LIMK1	ORPHA:904
HP:0001999	Abnormal facial shape	9569	GTF2IRD1	ORPHA:904
HP:0001999	Abnormal facial shape	155382	VPS37D	ORPHA:904
HP:0001999	Abnormal facial shape	155368	METTL27	ORPHA:904
HP:0001999	Abnormal facial shape	114049	BUD23	ORPHA:904
HP:0001999	Abnormal facial shape	7458	EIF4H	ORPHA:904
HP:0001999	Abnormal facial shape	84163	GTF2IRD2	ORPHA:904
HP:0001999	Abnormal facial shape	26608	TBL2	ORPHA:904
HP:0001999	Abnormal facial shape	653361	NCF1	ORPHA:904
HP:0001999	Abnormal facial shape	135886	TMEM270	ORPHA:904
HP:0001999	Abnormal facial shape	9031	BAZ1B	ORPHA:904
HP:0001999	Abnormal facial shape	9091	PIGQ	OMIM:618548
HP:0001999	Abnormal facial shape	285362	SUMF1	OMIM:272200
HP:0001999	Abnormal facial shape	285362	SUMF1	ORPHA:585
HP:0001999	Abnormal facial shape	55343	SLC35C1	OMIM:266265
HP:0001999	Abnormal facial shape	55343	SLC35C1	ORPHA:99843
HP:0001999	Abnormal facial shape	2990	GUSB	ORPHA:584
HP:0001999	Abnormal facial shape	2990	GUSB	OMIM:253220
HP:0001999	Abnormal facial shape	8314	BAP1	OMIM:619762
HP:0001999	Abnormal facial shape	6774	STAT3	OMIM:147060
HP:0001999	Abnormal facial shape	5594	MAPK1	OMIM:619087
HP:0001999	Abnormal facial shape	4221	MEN1	ORPHA:99725
HP:0001999	Abnormal facial shape	6925	TCF4	OMIM:610954
HP:0001999	Abnormal facial shape	6925	TCF4	ORPHA:2896
HP:0001999	Abnormal facial shape	57192	MCOLN1	ORPHA:578
HP:0001999	Abnormal facial shape	10430	TMEM147	OMIM:620075
HP:0001999	Abnormal facial shape	5727	PTCH1	ORPHA:377
HP:0001999	Abnormal facial shape	5727	PTCH1	OMIM:109400
HP:0001999	Abnormal facial shape	8643	PTCH2	ORPHA:377
HP:0001999	Abnormal facial shape	51684	SUFU	ORPHA:377
HP:0001999	Abnormal facial shape	7030	TFE3	OMIM:301066
HP:0001999	Abnormal facial shape	2239	GPC4	ORPHA:373
HP:0001999	Abnormal facial shape	2239	GPC4	OMIM:312870
HP:0001999	Abnormal facial shape	2719	GPC3	ORPHA:373
HP:0001999	Abnormal facial shape	2719	GPC3	OMIM:312870
HP:0001999	Abnormal facial shape	9968	MED12	OMIM:300895
HP:0001999	Abnormal facial shape	9968	MED12	ORPHA:293707
HP:0001999	Abnormal facial shape	1028	CDKN1C	OMIM:130650
HP:0001999	Abnormal facial shape	3481	IGF2	OMIM:130650
HP:0001999	Abnormal facial shape	3784	KCNQ1	OMIM:130650
HP:0001999	Abnormal facial shape	10984	KCNQ1OT1	OMIM:130650
HP:0001999	Abnormal facial shape	546	ATRX	OMIM:309580
HP:0001999	Abnormal facial shape	26047	CNTNAP2	OMIM:610042
HP:0001999	Abnormal facial shape	374969	SVBP	OMIM:618569
HP:0001999	Abnormal facial shape	404672	GTF2H5	ORPHA:33364
HP:0001999	Abnormal facial shape	833	CARS1	ORPHA:33364
HP:0001999	Abnormal facial shape	2068	ERCC2	ORPHA:33364
HP:0001999	Abnormal facial shape	7737	RNF113A	ORPHA:33364
HP:0001999	Abnormal facial shape	136647	MPLKIP	ORPHA:33364
HP:0001999	Abnormal facial shape	6897	TARS1	ORPHA:33364
HP:0001999	Abnormal facial shape	16	AARS1	ORPHA:33364
HP:0001999	Abnormal facial shape	2071	ERCC3	ORPHA:33364
HP:0001999	Abnormal facial shape	2961	GTF2E2	ORPHA:33364
HP:0001999	Abnormal facial shape	79791	FBXO31	OMIM:615979
HP:0001999	Abnormal facial shape	84295	PHF6	ORPHA:127
HP:0001999	Abnormal facial shape	84295	PHF6	OMIM:301900
HP:0001999	Abnormal facial shape	2697	GJA1	OMIM:218400
HP:0001999	Abnormal facial shape	51117	COQ4	OMIM:616276
HP:0001999	Abnormal facial shape	4352	MPL	ORPHA:3319
HP:0001999	Abnormal facial shape	7066	THPO	ORPHA:3319
HP:0001999	Abnormal facial shape	5277	PIGA	OMIM:301072
HP:0001999	Abnormal facial shape	5277	PIGA	OMIM:300868
HP:0001999	Abnormal facial shape	78987	CRELD1	OMIM:620771
HP:0001999	Abnormal facial shape	8260	NAA10	ORPHA:276432
HP:0001999	Abnormal facial shape	8260	NAA10	OMIM:300855
HP:0001999	Abnormal facial shape	54808	DYM	ORPHA:239
HP:0001999	Abnormal facial shape	54808	DYM	OMIM:223800
HP:0001999	Abnormal facial shape	9488	PIGB	OMIM:618580
HP:0001999	Abnormal facial shape	6448	SGSH	OMIM:252900
HP:0001999	Abnormal facial shape	23013	SPEN	OMIM:619312
HP:0001999	Abnormal facial shape	30000	TNPO2	OMIM:619556
HP:0001999	Abnormal facial shape	23394	ADNP	OMIM:615873
HP:0001999	Abnormal facial shape	54973	INTS11	OMIM:620428
HP:0001999	Abnormal facial shape	84320	ACBD6	OMIM:620785
HP:0001999	Abnormal facial shape	411	ARSB	OMIM:253200
HP:0001999	Abnormal facial shape	55593	OTUD5	OMIM:301056
HP:0001999	Abnormal facial shape	7707	ZNF148	OMIM:617260
HP:0001999	Abnormal facial shape	57465	TBC1D24	OMIM:220500
HP:0001999	Abnormal facial shape	57465	TBC1D24	ORPHA:79500
HP:0001999	Abnormal facial shape	23102	TBC1D2B	OMIM:619323
HP:0001999	Abnormal facial shape	79868	ALG13	OMIM:300884
HP:0001999	Abnormal facial shape	55784	MCTP2	ORPHA:1596
HP:0001999	Abnormal facial shape	9179	AP4M1	OMIM:612936
HP:0001999	Abnormal facial shape	9179	AP4M1	ORPHA:280763
HP:0001999	Abnormal facial shape	7849	PAX8	ORPHA:95720
HP:0001999	Abnormal facial shape	7849	PAX8	ORPHA:95713
HP:0001999	Abnormal facial shape	7849	PAX8	ORPHA:95712
HP:0001999	Abnormal facial shape	7253	TSHR	ORPHA:95720
HP:0001999	Abnormal facial shape	7253	TSHR	ORPHA:95713
HP:0001999	Abnormal facial shape	5172	SLC26A4	ORPHA:95720
HP:0001999	Abnormal facial shape	5172	SLC26A4	ORPHA:95713
HP:0001999	Abnormal facial shape	79068	FTO	OMIM:612938
HP:0001999	Abnormal facial shape	153642	ARSK	OMIM:619698
HP:0001999	Abnormal facial shape	63035	BCORL1	OMIM:301029
HP:0001999	Abnormal facial shape	3756	KCNH1	OMIM:135500
HP:0001999	Abnormal facial shape	3756	KCNH1	ORPHA:420561
HP:0001999	Abnormal facial shape	5530	PPP3CA	OMIM:617711
HP:0001999	Abnormal facial shape	1482	NKX2-5	ORPHA:95713
HP:0001999	Abnormal facial shape	1482	NKX2-5	ORPHA:95712
HP:0001999	Abnormal facial shape	2304	FOXE1	ORPHA:95713
HP:0001999	Abnormal facial shape	1108	CHD4	OMIM:617159
HP:0001999	Abnormal facial shape	5604	MAP2K1	ORPHA:1340
HP:0001999	Abnormal facial shape	5605	MAP2K2	ORPHA:1340
HP:0001999	Abnormal facial shape	64131	XYLT1	OMIM:615777
HP:0001999	Abnormal facial shape	28956	LAMTOR2	ORPHA:90023
HP:0001999	Abnormal facial shape	28956	LAMTOR2	OMIM:610798
HP:0001999	Abnormal facial shape	2717	GLA	ORPHA:324
HP:0001999	Abnormal facial shape	3248	HPGD	ORPHA:2796
HP:0001999	Abnormal facial shape	3248	HPGD	OMIM:259100
HP:0001999	Abnormal facial shape	6578	SLCO2A1	ORPHA:2796
HP:0001999	Abnormal facial shape	80311	KLHL15	OMIM:300982
HP:0001999	Abnormal facial shape	23258	DENND5A	OMIM:617281
HP:0001999	Abnormal facial shape	26175	LYSET	OMIM:619345
HP:0001999	Abnormal facial shape	2332	FMR1	OMIM:300624
HP:0001999	Abnormal facial shape	5144	PDE4D	ORPHA:439822
HP:0001999	Abnormal facial shape	5281	PIGF	OMIM:619356
HP:0001999	Abnormal facial shape	57003	CCDC47	OMIM:618268
HP:0001999	Abnormal facial shape	94005	PIGS	OMIM:618143
HP:0001999	Abnormal facial shape	2588	GALNS	OMIM:253000
HP:0001999	Abnormal facial shape	285590	SH3PXD2B	ORPHA:137834
HP:0001999	Abnormal facial shape	285590	SH3PXD2B	OMIM:249420
HP:0001999	Abnormal facial shape	57688	ZSWIM6	OMIM:617865
HP:0001999	Abnormal facial shape	2799	GNS	OMIM:252940
HP:0001999	Abnormal facial shape	9759	HDAC4	OMIM:600430
HP:0001999	Abnormal facial shape	4081	MAB21L1	ORPHA:495875
HP:0001999	Abnormal facial shape	153241	CEP120	OMIM:616300
HP:0001999	Abnormal facial shape	26503	SLC17A5	OMIM:269920
HP:0001999	Abnormal facial shape	4668	NAGA	ORPHA:79280
HP:0001999	Abnormal facial shape	4668	NAGA	OMIM:609242
HP:0001999	Abnormal facial shape	54187	NANS	OMIM:610442
HP:0001999	Abnormal facial shape	138050	HGSNAT	OMIM:252930
HP:0001999	Abnormal facial shape	55901	THSD1	OMIM:620244
HP:0001999	Abnormal facial shape	71	ACTG1	ORPHA:2995
HP:0001999	Abnormal facial shape	60	ACTB	ORPHA:2995
HP:0001999	Abnormal facial shape	64802	NMNAT1	OMIM:619260
HP:0001999	Abnormal facial shape	129285	PPP1R21	OMIM:619383
HP:0001999	Abnormal facial shape	3897	L1CAM	ORPHA:2182
HP:0001999	Abnormal facial shape	672	BRCA1	OMIM:617883
HP:0001999	Abnormal facial shape	83452	RAB33B	OMIM:615222
HP:0001999	Abnormal facial shape	55331	ACER3	OMIM:617762
HP:0001999	Abnormal facial shape	7543	ZFX	OMIM:301118
HP:0001999	Abnormal facial shape	4669	NAGLU	OMIM:252920
HP:0001999	Abnormal facial shape	79718	TBL1XR1	OMIM:602342
HP:0001999	Abnormal facial shape	7319	UBE2A	OMIM:300860
HP:0001999	Abnormal facial shape	221927	BRAT1	OMIM:618056
HP:0001999	Abnormal facial shape	4774	NFIA	OMIM:613735
HP:0001999	Abnormal facial shape	1759	DNM1	OMIM:620352
HP:0001999	Abnormal facial shape	2538	G6PC1	OMIM:232200
HP:0001999	Abnormal facial shape	8635	RNASET2	OMIM:612951
HP:0001999	Abnormal facial shape	6514	SLC2A2	ORPHA:2088
HP:0001999	Abnormal facial shape	2542	SLC37A4	OMIM:232220
HP:0001999	Abnormal facial shape	54345	SOX18	OMIM:137940
HP:0001999	Abnormal facial shape	8626	TP63	OMIM:106260
HP:0001999	Abnormal facial shape	22827	PUF60	ORPHA:508488
HP:0001999	Abnormal facial shape	54084	TSPEAR	OMIM:618180
HP:0001999	Abnormal facial shape	104	ADARB1	OMIM:618862
HP:0001999	Abnormal facial shape	1272	CNTN1	OMIM:612540
HP:0001999	Abnormal facial shape	10525	HYOU1	OMIM:233600
HP:0001999	Abnormal facial shape	8573	CASK	OMIM:300749
HP:0001999	Abnormal facial shape	55770	EXOC2	OMIM:619306
HP:0001999	Abnormal facial shape	8604	SLC25A12	OMIM:612949
HP:0001999	Abnormal facial shape	126792	B3GALT6	OMIM:271640
HP:0001999	Abnormal facial shape	2245	FGD1	OMIM:305400
HP:0001999	Abnormal facial shape	2245	FGD1	ORPHA:915
HP:0001999	Abnormal facial shape	3376	IARS1	OMIM:617093
HP:0001999	Abnormal facial shape	3376	IARS1	ORPHA:541423
HP:0001999	Abnormal facial shape	8243	SMC1A	OMIM:301044
HP:0001999	Abnormal facial shape	1291	COL6A1	OMIM:254090
HP:0001999	Abnormal facial shape	100151683	RNU4ATAC	OMIM:210710
HP:0001999	Abnormal facial shape	29123	ANKRD11	ORPHA:2332
HP:0001999	Abnormal facial shape	29123	ANKRD11	OMIM:148050
HP:0001999	Abnormal facial shape	775	CACNA1C	OMIM:620029
HP:0001999	Abnormal facial shape	775	CACNA1C	OMIM:601005
HP:0001999	Abnormal facial shape	2778	GNAS	OMIM:219080
HP:0001999	Abnormal facial shape	2778	GNAS	ORPHA:94089
HP:0001999	Abnormal facial shape	2778	GNAS	OMIM:612463
HP:0001999	Abnormal facial shape	2778	GNAS	OMIM:612462
HP:0001999	Abnormal facial shape	2778	GNAS	ORPHA:79443
HP:0001999	Abnormal facial shape	2778	GNAS	ORPHA:79444
HP:0001999	Abnormal facial shape	2778	GNAS	ORPHA:79445
HP:0001999	Abnormal facial shape	2778	GNAS	OMIM:103580
HP:0001999	Abnormal facial shape	5332	PLCB4	OMIM:614669
HP:0001999	Abnormal facial shape	145173	B3GLCT	ORPHA:709
HP:0001999	Abnormal facial shape	145173	B3GLCT	OMIM:261540
HP:0001999	Abnormal facial shape	8675	STX16	ORPHA:94089
HP:0001999	Abnormal facial shape	91147	TMEM67	OMIM:216360
HP:0001999	Abnormal facial shape	5575	PRKAR1B	OMIM:619680
HP:0001999	Abnormal facial shape	1062	CENPE	OMIM:616051
HP:0001999	Abnormal facial shape	51741	WWOX	OMIM:616211
HP:0001999	Abnormal facial shape	23030	KDM4B	OMIM:619320
HP:0001999	Abnormal facial shape	55790	CSGALNACT1	OMIM:618870
HP:0001999	Abnormal facial shape	4010	LMX1B	ORPHA:495818
HP:0001999	Abnormal facial shape	6812	STXBP1	ORPHA:495818
HP:0001999	Abnormal facial shape	72	ACTG2	ORPHA:2604
HP:0001999	Abnormal facial shape	50940	PDE11A	OMIM:610475
HP:0001999	Abnormal facial shape	1363	CPE	OMIM:619326
HP:0001999	Abnormal facial shape	23384	SPECC1L	ORPHA:1519
HP:0001999	Abnormal facial shape	10472	ZBTB18	ORPHA:36367
HP:0001999	Abnormal facial shape	10472	ZBTB18	OMIM:612337
HP:0001999	Abnormal facial shape	5189	PEX1	OMIM:214100
HP:0001999	Abnormal facial shape	5189	PEX1	ORPHA:3220
HP:0001999	Abnormal facial shape	64175	P3H1	OMIM:610915
HP:0001999	Abnormal facial shape	5934	RBL2	OMIM:619690
HP:0001999	Abnormal facial shape	6452	SH3BP2	OMIM:118400
HP:0001999	Abnormal facial shape	84068	SLC10A7	OMIM:618363
HP:0001999	Abnormal facial shape	5573	PRKAR1A	OMIM:610489
HP:0001999	Abnormal facial shape	3183	HNRNPC	OMIM:620688
HP:0001999	Abnormal facial shape	2200	FBN1	ORPHA:969
HP:0001999	Abnormal facial shape	2200	FBN1	OMIM:102370
HP:0001999	Abnormal facial shape	4054	LTBP3	ORPHA:969
HP:0001999	Abnormal facial shape	4054	LTBP3	OMIM:617809
HP:0001999	Abnormal facial shape	23389	MED13L	ORPHA:369891
HP:0001999	Abnormal facial shape	23389	MED13L	OMIM:616789
HP:0001999	Abnormal facial shape	26523	AGO1	OMIM:620292
HP:0001999	Abnormal facial shape	8726	EED	OMIM:617561
HP:0001999	Abnormal facial shape	10524	KAT5	OMIM:619103
HP:0001999	Abnormal facial shape	1501	CTNND2	ORPHA:281
HP:0001999	Abnormal facial shape	9037	SEMA5A	ORPHA:281
HP:0001999	Abnormal facial shape	4000	LMNA	OMIM:151660
HP:0001999	Abnormal facial shape	4000	LMNA	ORPHA:280365
HP:0001999	Abnormal facial shape	4000	LMNA	ORPHA:2348
HP:0001999	Abnormal facial shape	4297	KMT2A	ORPHA:319182
HP:0001999	Abnormal facial shape	23327	NEDD4L	OMIM:617201
HP:0001999	Abnormal facial shape	1301	COL11A1	ORPHA:2021
HP:0001999	Abnormal facial shape	1302	COL11A2	ORPHA:2021
HP:0001999	Abnormal facial shape	2773	GNAI3	OMIM:602483
HP:0001999	Abnormal facial shape	7840	ALMS1	ORPHA:64
HP:0001999	Abnormal facial shape	9895	TECPR2	OMIM:615031
HP:0001999	Abnormal facial shape	9895	TECPR2	ORPHA:320385
HP:0001999	Abnormal facial shape	23512	SUZ12	OMIM:618786
HP:0001999	Abnormal facial shape	23512	SUZ12	ORPHA:3447
HP:0001999	Abnormal facial shape	149371	EXOC8	OMIM:619076
HP:0001999	Abnormal facial shape	7862	BRPF1	OMIM:617333
HP:0001999	Abnormal facial shape	1861	TOR1A	OMIM:618947
HP:0001999	Abnormal facial shape	9841	ZBTB24	OMIM:614069
HP:0001999	Abnormal facial shape	5828	PEX2	OMIM:614866
HP:0001999	Abnormal facial shape	79798	ARMC5	OMIM:615954
HP:0001999	Abnormal facial shape	5190	PEX6	ORPHA:3220
HP:0001999	Abnormal facial shape	9719	ADAMTSL2	OMIM:231050
HP:0001999	Abnormal facial shape	3675	ITGA3	OMIM:614748
HP:0001999	Abnormal facial shape	207	AKT1	ORPHA:744
HP:0001999	Abnormal facial shape	4893	NRAS	OMIM:137550
HP:0001999	Abnormal facial shape	6182	MRPL12	OMIM:618951
HP:0001999	Abnormal facial shape	28957	MRPS28	OMIM:618958
HP:0001999	Abnormal facial shape	6901	TAFAZZIN	OMIM:302060
HP:0001999	Abnormal facial shape	124583	CANT1	OMIM:251450
HP:0001999	Abnormal facial shape	23162	MAPK8IP3	OMIM:618443
HP:0001999	Abnormal facial shape	79989	IFT56	OMIM:619534
HP:0001999	Abnormal facial shape	55023	PHIP	OMIM:617991
HP:0001999	Abnormal facial shape	10491	CRTAP	OMIM:610682
HP:0001999	Abnormal facial shape	2146	EZH2	OMIM:277590
HP:0001999	Abnormal facial shape	2146	EZH2	ORPHA:3447
HP:0001999	Abnormal facial shape	1968	EIF2S3	ORPHA:85282
HP:0001999	Abnormal facial shape	5965	RECQL	OMIM:620370
HP:0001999	Abnormal facial shape	583	BBS2	OMIM:615981
HP:0001999	Abnormal facial shape	9427	ECEL1	OMIM:615065
HP:0001999	Abnormal facial shape	3239	HOXD13	OMIM:113300
HP:0001999	Abnormal facial shape	2703	GJA8	OMIM:612474
HP:0001999	Abnormal facial shape	2702	GJA5	OMIM:612474
HP:0001999	Abnormal facial shape	51025	PAM16	OMIM:613320
HP:0001999	Abnormal facial shape	10801	SEPTIN9	ORPHA:2901
HP:0001999	Abnormal facial shape	9898	UBAP2L	OMIM:620494
HP:0001999	Abnormal facial shape	10111	RAD50	OMIM:613078
HP:0001999	Abnormal facial shape	10269	ZMPSTE24	OMIM:608612
HP:0001999	Abnormal facial shape	7486	WRN	OMIM:277700
HP:0001999	Abnormal facial shape	7518	XRCC4	ORPHA:99812
HP:0001999	Abnormal facial shape	3981	LIG4	ORPHA:99812
HP:0001999	Abnormal facial shape	80326	WNT10A	OMIM:224750
HP:0001999	Abnormal facial shape	80326	WNT10A	ORPHA:50944
HP:0001999	Abnormal facial shape	5424	POLD1	OMIM:615381
HP:0001999	Abnormal facial shape	79840	NHEJ1	ORPHA:169079
HP:0001999	Abnormal facial shape	3977	LIFR	OMIM:601559
HP:0001999	Abnormal facial shape	23067	SETD1B	OMIM:619000
HP:0001999	Abnormal facial shape	10765	KDM5B	OMIM:618109
HP:0001999	Abnormal facial shape	92949	ADAMTSL1	ORPHA:521445
HP:0001999	Abnormal facial shape	55636	CHD7	OMIM:214800
HP:0001999	Abnormal facial shape	55081	IFT57	OMIM:617927
HP:0001999	Abnormal facial shape	28962	OSTM1	OMIM:259720
HP:0001999	Abnormal facial shape	10262	SF3B4	OMIM:154400
HP:0001999	Abnormal facial shape	1947	EFNB1	ORPHA:1520
HP:0001999	Abnormal facial shape	1947	EFNB1	OMIM:304110
HP:0001999	Abnormal facial shape	10992	SF3B2	OMIM:164210
HP:0001999	Abnormal facial shape	80144	FRAS1	OMIM:219000
HP:0001999	Abnormal facial shape	283120	H19	ORPHA:231144
HP:0001999	Abnormal facial shape	283120	H19	ORPHA:2128
HP:0001999	Abnormal facial shape	613	BCR	ORPHA:261330
HP:0001999	Abnormal facial shape	1399	CRKL	ORPHA:261330
HP:0001999	Abnormal facial shape	9723	SEMA3E	ORPHA:138
HP:0001999	Abnormal facial shape	5745	PTH1R	ORPHA:296
HP:0001999	Abnormal facial shape	3418	IDH2	ORPHA:296
HP:0001999	Abnormal facial shape	3417	IDH1	ORPHA:296
HP:0001999	Abnormal facial shape	25885	POLR1A	OMIM:616462
HP:0001999	Abnormal facial shape	5290	PIK3CA	ORPHA:140944
HP:0001999	Abnormal facial shape	5290	PIK3CA	ORPHA:60040
HP:0001999	Abnormal facial shape	5290	PIK3CA	ORPHA:168984
HP:0001999	Abnormal facial shape	5290	PIK3CA	OMIM:612918
HP:0001999	Abnormal facial shape	10459	MAD2L2	ORPHA:84
HP:0001999	Abnormal facial shape	7516	XRCC2	ORPHA:84
HP:0001999	Abnormal facial shape	29089	UBE2T	ORPHA:84
HP:0001999	Abnormal facial shape	675	BRCA2	ORPHA:84
HP:0001999	Abnormal facial shape	55120	FANCL	ORPHA:84
HP:0001999	Abnormal facial shape	2177	FANCD2	ORPHA:84
HP:0001999	Abnormal facial shape	2175	FANCA	ORPHA:84
HP:0001999	Abnormal facial shape	2187	FANCB	ORPHA:84
HP:0001999	Abnormal facial shape	2176	FANCC	ORPHA:84
HP:0001999	Abnormal facial shape	2178	FANCE	ORPHA:84
HP:0001999	Abnormal facial shape	2188	FANCF	ORPHA:84
HP:0001999	Abnormal facial shape	2189	FANCG	ORPHA:84
HP:0001999	Abnormal facial shape	5888	RAD51	ORPHA:84
HP:0001999	Abnormal facial shape	5889	RAD51C	ORPHA:84
HP:0001999	Abnormal facial shape	55159	RFWD3	ORPHA:84
HP:0001999	Abnormal facial shape	83990	BRIP1	ORPHA:84
HP:0001999	Abnormal facial shape	57697	FANCM	ORPHA:84
HP:0001999	Abnormal facial shape	79728	PALB2	ORPHA:84
HP:0001999	Abnormal facial shape	84464	SLX4	ORPHA:84
HP:0001999	Abnormal facial shape	55215	FANCI	ORPHA:84
HP:0001999	Abnormal facial shape	652	BMP4	OMIM:607932
HP:0001999	Abnormal facial shape	1500	CTNND1	OMIM:617681
HP:0001999	Abnormal facial shape	10682	EBP	ORPHA:35173
HP:0001999	Abnormal facial shape	5813	PURA	ORPHA:438216
HP:0001999	Abnormal facial shape	7291	TWIST1	OMIM:101400
HP:0001999	Abnormal facial shape	7291	TWIST1	ORPHA:794
HP:0001999	Abnormal facial shape	4915	NTRK2	OMIM:613886
HP:0001999	Abnormal facial shape	1906	EDN1	ORPHA:137888
HP:0001999	Abnormal facial shape	26834	RNU4-2	OMIM:620851
HP:0001999	Abnormal facial shape	9241	NOG	ORPHA:3237
HP:0001999	Abnormal facial shape	8200	GDF5	ORPHA:3237
HP:0001999	Abnormal facial shape	2254	FGF9	ORPHA:3237
HP:0001999	Abnormal facial shape	57167	SALL4	ORPHA:233
HP:0001999	Abnormal facial shape	57167	SALL4	OMIM:607323
HP:0001999	Abnormal facial shape	9935	MAFB	ORPHA:233
HP:0001999	Abnormal facial shape	1123	CHN1	ORPHA:233
HP:0001999	Abnormal facial shape	5518	PPP2R1A	OMIM:616362
HP:0001999	Abnormal facial shape	5518	PPP2R1A	ORPHA:457284
HP:0001999	Abnormal facial shape	5311	PKD2	OMIM:613095
HP:0001999	Abnormal facial shape	392255	GDF6	OMIM:118100
HP:0001999	Abnormal facial shape	392255	GDF6	ORPHA:2345
HP:0001999	Abnormal facial shape	6608	SMO	OMIM:601707
HP:0001999	Abnormal facial shape	6608	SMO	ORPHA:1553
HP:0001999	Abnormal facial shape	63895	PIEZO2	OMIM:114300
HP:0001999	Abnormal facial shape	63895	PIEZO2	ORPHA:376
HP:0001999	Abnormal facial shape	1909	EDNRA	OMIM:616367
HP:0001999	Abnormal facial shape	6660	SOX5	OMIM:616803
HP:0001999	Abnormal facial shape	8239	USP9X	ORPHA:480880
HP:0001999	Abnormal facial shape	8239	USP9X	OMIM:300968
HP:0001999	Abnormal facial shape	8085	KMT2D	OMIM:620186
HP:0001999	Abnormal facial shape	2138	EYA1	ORPHA:107
HP:0001999	Abnormal facial shape	2138	EYA1	ORPHA:52429
HP:0001999	Abnormal facial shape	2138	EYA1	ORPHA:2792
HP:0001999	Abnormal facial shape	147912	SIX5	ORPHA:107
HP:0001999	Abnormal facial shape	6495	SIX1	ORPHA:107
HP:0001999	Abnormal facial shape	6495	SIX1	ORPHA:52429
HP:0001999	Abnormal facial shape	2736	GLI2	OMIM:610829
HP:0001999	Abnormal facial shape	8481	OFD1	OMIM:311200
HP:0001999	Abnormal facial shape	8481	OFD1	ORPHA:2750
HP:0001999	Abnormal facial shape	6785	ELOVL4	ORPHA:1955
HP:0001999	Abnormal facial shape	4626	MYH8	OMIM:158300
HP:0001999	Abnormal facial shape	4123	MAN2C1	OMIM:619775
HP:0001999	Abnormal facial shape	3730	ANOS1	OMIM:308700
HP:0001999	Abnormal facial shape	8621	CDK13	OMIM:617360
HP:0001999	Abnormal facial shape	9573	GDF3	ORPHA:2345
HP:0001999	Abnormal facial shape	4222	MEOX1	ORPHA:2345
HP:0001999	Abnormal facial shape	7046	TGFBR1	OMIM:609192
HP:0001999	Abnormal facial shape	2335	FN1	ORPHA:93315
HP:0001999	Abnormal facial shape	4038	LRP4	OMIM:614305
HP:0001999	Abnormal facial shape	6418	SET	OMIM:618106
HP:0001999	Abnormal facial shape	113179	ADAT3	ORPHA:363528
HP:0001999	Abnormal facial shape	83479	DDX59	OMIM:174300
HP:0001999	Abnormal facial shape	9126	SMC3	OMIM:610759
HP:0001999	Abnormal facial shape	23499	MACF1	ORPHA:572013
HP:0001999	Abnormal facial shape	387119	CEP85L	ORPHA:572013
HP:0001999	Abnormal facial shape	5075	PAX1	ORPHA:2792
HP:0001999	Abnormal facial shape	1009	CDH11	OMIM:211380
HP:0001999	Abnormal facial shape	444	ASPH	OMIM:601552
HP:0001999	Abnormal facial shape	545	ATR	OMIM:210600
HP:0001999	Abnormal facial shape	208	AKT2	OMIM:240900
HP:0001999	Abnormal facial shape	9734	HDAC9	OMIM:620457
HP:0001999	Abnormal facial shape	2313	FLI1	ORPHA:2308
HP:0001999	Abnormal facial shape	64864	RFX7	OMIM:620330
HP:0001999	Abnormal facial shape	64840	PORCN	OMIM:305600
HP:0001999	Abnormal facial shape	64840	PORCN	ORPHA:2092
HP:0001999	Abnormal facial shape	4762	NEUROG1	OMIM:620469
HP:0001999	Abnormal facial shape	80036	TRPM3	OMIM:620224
HP:0001999	Abnormal facial shape	7204	TRIO	OMIM:617061
HP:0001999	Abnormal facial shape	7204	TRIO	ORPHA:476126
HP:0001999	Abnormal facial shape	1277	COL1A1	ORPHA:1310
HP:0001999	Abnormal facial shape	6299	SALL1	ORPHA:857
HP:0001999	Abnormal facial shape	51339	DACT1	ORPHA:857
HP:0001999	Abnormal facial shape	22995	CEP152	OMIM:613823
HP:0001999	Abnormal facial shape	387	RHOA	OMIM:618727
HP:0001999	Abnormal facial shape	51594	NBAS	OMIM:614800
HP:0001999	Abnormal facial shape	5718	PSMD12	OMIM:617516
HP:0001999	Abnormal facial shape	63916	ELMO2	OMIM:606893
HP:0001999	Abnormal facial shape	4621	MYH3	ORPHA:2990
HP:0001999	Abnormal facial shape	57647	DHX37	OMIM:618731
HP:0001999	Abnormal facial shape	7545	ZIC1	OMIM:618736
HP:0001999	Abnormal facial shape	9990	SLC12A6	OMIM:218000
HP:0001999	Abnormal facial shape	50651	SLC45A1	OMIM:617532
HP:0001999	Abnormal facial shape	83932	SPRTN	OMIM:616200
HP:0001999	Abnormal facial shape	161742	SPRED1	OMIM:611431
HP:0001999	Abnormal facial shape	9820	CUL7	ORPHA:2616
HP:0001999	Abnormal facial shape	9820	CUL7	OMIM:273750
HP:0001999	Abnormal facial shape	23363	OBSL1	ORPHA:2616
HP:0001999	Abnormal facial shape	23363	OBSL1	OMIM:612921
HP:0001999	Abnormal facial shape	83987	CCDC8	ORPHA:2616
HP:0001999	Abnormal facial shape	83987	CCDC8	OMIM:614205
HP:0001999	Abnormal facial shape	2629	GBA1	OMIM:608013
HP:0001999	Abnormal facial shape	116931	MED12L	OMIM:618872
HP:0001999	Abnormal facial shape	10847	SRCAP	ORPHA:2044
HP:0001999	Abnormal facial shape	10847	SRCAP	OMIM:136140
HP:0001999	Abnormal facial shape	10084	PQBP1	ORPHA:93947
HP:0001999	Abnormal facial shape	10084	PQBP1	OMIM:309500
HP:0001999	Abnormal facial shape	54543	TOMM7	OMIM:620601
HP:0001999	Abnormal facial shape	222663	SCUBE3	OMIM:619184
HP:0001999	Abnormal facial shape	9184	BUB3	ORPHA:1052
HP:0001999	Abnormal facial shape	699	BUB1	ORPHA:1052
HP:0001999	Abnormal facial shape	9702	CEP57	ORPHA:1052
HP:0001999	Abnormal facial shape	9702	CEP57	OMIM:614114
HP:0001999	Abnormal facial shape	9319	TRIP13	ORPHA:1052
HP:0001999	Abnormal facial shape	701	BUB1B	ORPHA:1052
HP:0001999	Abnormal facial shape	22872	SEC31A	OMIM:618651
HP:0001999	Abnormal facial shape	4591	TRIM37	OMIM:253250
HP:0001999	Abnormal facial shape	649	BMP1	OMIM:614856
HP:0001999	Abnormal facial shape	4598	MVK	OMIM:610377
HP:0001999	Abnormal facial shape	4598	MVK	ORPHA:29
HP:0001999	Abnormal facial shape	26057	ANKRD17	OMIM:619504
HP:0001999	Abnormal facial shape	7809	BSND	ORPHA:89938
HP:0001999	Abnormal facial shape	1188	CLCNKB	ORPHA:89938
HP:0001999	Abnormal facial shape	1187	CLCNKA	ORPHA:89938
HP:0001999	Abnormal facial shape	54914	FOCAD	OMIM:619991
HP:0001999	Abnormal facial shape	8558	CDK10	OMIM:617694
HP:0001999	Abnormal facial shape	5593	PRKG2	OMIM:619638
HP:0001999	Abnormal facial shape	5593	PRKG2	OMIM:619636
HP:0001999	Abnormal facial shape	11128	POLR3A	OMIM:264090
HP:0001999	Abnormal facial shape	11128	POLR3A	ORPHA:3455
HP:0001999	Abnormal facial shape	23137	SMC5	OMIM:620185
HP:0001999	Abnormal facial shape	7750	ZMYM2	OMIM:619522
HP:0001999	Abnormal facial shape	5324	PLAG1	ORPHA:397590
HP:0001999	Abnormal facial shape	5324	PLAG1	OMIM:618907
HP:0001999	Abnormal facial shape	8091	HMGA2	ORPHA:397590
HP:0001999	Abnormal facial shape	8091	HMGA2	OMIM:618908
HP:0001999	Abnormal facial shape	8091	HMGA2	ORPHA:94063
HP:0001999	Abnormal facial shape	7140	TNNT3	OMIM:618435
HP:0001999	Abnormal facial shape	182	JAG1	OMIM:118450
HP:0001999	Abnormal facial shape	9772	TMEM94	OMIM:618316
HP:0001999	Abnormal facial shape	57724	EPG5	OMIM:242840
HP:0001999	Abnormal facial shape	5295	PIK3R1	OMIM:269880
HP:0001999	Abnormal facial shape	5295	PIK3R1	ORPHA:3163
HP:0001999	Abnormal facial shape	5818	NECTIN1	OMIM:225060
HP:0001999	Abnormal facial shape	5194	PEX13	OMIM:614883
HP:0001999	Abnormal facial shape	5824	PEX19	OMIM:614886
HP:0001999	Abnormal facial shape	5195	PEX14	OMIM:614887
HP:0001999	Abnormal facial shape	51574	LARP7	ORPHA:319671
HP:0001999	Abnormal facial shape	51574	LARP7	OMIM:615071
HP:0001999	Abnormal facial shape	387733	IFITM5	OMIM:610967
HP:0001999	Abnormal facial shape	60681	FKBP10	OMIM:610968
HP:0001999	Abnormal facial shape	60681	FKBP10	ORPHA:2771
HP:0001999	Abnormal facial shape	6595	SMARCA2	OMIM:601358
HP:0001999	Abnormal facial shape	6595	SMARCA2	ORPHA:3051
HP:0001999	Abnormal facial shape	80067	DCAF17	OMIM:241080
HP:0001999	Abnormal facial shape	27077	B9D1	OMIM:617120
HP:0001999	Abnormal facial shape	5781	PTPN11	OMIM:151100
HP:0001999	Abnormal facial shape	5781	PTPN11	ORPHA:500
HP:0001999	Abnormal facial shape	5781	PTPN11	ORPHA:648
HP:0001999	Abnormal facial shape	5781	PTPN11	OMIM:163950
HP:0001999	Abnormal facial shape	256297	PTF1A	ORPHA:65288
HP:0001999	Abnormal facial shape	256297	PTF1A	OMIM:609069
HP:0001999	Abnormal facial shape	867	CBL	OMIM:613563
HP:0001999	Abnormal facial shape	867	CBL	ORPHA:648
HP:0001999	Abnormal facial shape	5081	PAX7	OMIM:618578
HP:0001999	Abnormal facial shape	27145	FILIP1	OMIM:620775
HP:0001999	Abnormal facial shape	5910	RAP1GDS1	OMIM:620655
HP:0001999	Abnormal facial shape	3720	JARID2	OMIM:620098
HP:0001999	Abnormal facial shape	7227	TRPS1	ORPHA:77258
HP:0001999	Abnormal facial shape	10075	HUWE1	OMIM:309590
HP:0001999	Abnormal facial shape	6909	TBX2	OMIM:618223
HP:0001999	Abnormal facial shape	54517	PUS7	OMIM:618342
HP:0001999	Abnormal facial shape	29926	GMPPA	OMIM:615510
HP:0001999	Abnormal facial shape	1278	COL1A2	OMIM:259420
HP:0001999	Abnormal facial shape	90459	ERI1	OMIM:620662
HP:0001999	Abnormal facial shape	221496	LEMD2	OMIM:619322
HP:0001999	Abnormal facial shape	9871	SEC24D	OMIM:616294
HP:0001999	Abnormal facial shape	91179	SCARF2	OMIM:600920
HP:0001999	Abnormal facial shape	5831	PYCR1	OMIM:614438
HP:0001999	Abnormal facial shape	5831	PYCR1	OMIM:612940
HP:0001999	Abnormal facial shape	90161	HS6ST2	OMIM:301025
HP:0001999	Abnormal facial shape	10735	STAG2	OMIM:301022
HP:0001999	Abnormal facial shape	57551	TAOK1	OMIM:619575
HP:0001999	Abnormal facial shape	201163	FLCN	OMIM:610883
HP:0001999	Abnormal facial shape	57211	ADGRG6	OMIM:616503
HP:0001999	Abnormal facial shape	7136	TNNI2	OMIM:601680
HP:0001999	Abnormal facial shape	23592	LEMD3	ORPHA:94063
HP:0001999	Abnormal facial shape	2186	BPTF	ORPHA:529962
HP:0001999	Abnormal facial shape	3758	KCNJ1	OMIM:241200
HP:0001999	Abnormal facial shape	23594	ORC6	OMIM:613803
HP:0001999	Abnormal facial shape	990	CDC6	OMIM:613805
HP:0001999	Abnormal facial shape	29927	SEC61A1	OMIM:617056
HP:0001999	Abnormal facial shape	29957	SLC25A24	OMIM:612289
HP:0001999	Abnormal facial shape	5352	PLOD2	ORPHA:2771
HP:0001999	Abnormal facial shape	8405	SPOP	OMIM:618829
HP:0001999	Abnormal facial shape	60676	PAPPA2	OMIM:619489
HP:0001999	Abnormal facial shape	10651	MTX2	OMIM:619127
HP:0001999	Abnormal facial shape	23112	TNRC6B	OMIM:619243
HP:0001999	Abnormal facial shape	57570	TRMT5	OMIM:616539
HP:0001999	Abnormal facial shape	118924	FRA10AC1	OMIM:620113
HP:0001999	Abnormal facial shape	22800	RRAS2	ORPHA:648
HP:0001999	Abnormal facial shape	8216	LZTR1	ORPHA:648
HP:0001999	Abnormal facial shape	6016	RIT1	ORPHA:648
HP:0001999	Abnormal facial shape	6237	RRAS	ORPHA:648
HP:0001999	Abnormal facial shape	22808	MRAS	ORPHA:648
HP:0001999	Abnormal facial shape	6654	SOS1	ORPHA:648
HP:0001999	Abnormal facial shape	6655	SOS2	ORPHA:648
HP:0001999	Abnormal facial shape	5922	RASA2	ORPHA:648
HP:0001999	Abnormal facial shape	5479	PPIB	OMIM:259440
HP:0001999	Abnormal facial shape	55553	SOX6	OMIM:618971
HP:0001999	Abnormal facial shape	284361	EMC10	OMIM:619264
HP:0001999	Abnormal facial shape	523	ATP6V1A	OMIM:617403
HP:0001999	Abnormal facial shape	529	ATP6V1E1	OMIM:617402
HP:0001999	Abnormal facial shape	4654	MYOD1	OMIM:618975
HP:0001999	Abnormal facial shape	25886	POC1A	OMIM:614813
HP:0001999	Abnormal facial shape	871	SERPINH1	OMIM:613848
HP:0001999	Abnormal facial shape	90952	ESAM	OMIM:620371
HP:0001999	Abnormal facial shape	2273	FHL1	OMIM:300280
HP:0001999	Abnormal facial shape	2137	EXTL3	ORPHA:508533
HP:0001999	Abnormal facial shape	7528	YY1	ORPHA:506358
HP:0001999	Abnormal facial shape	10134	BCAP31	OMIM:300475
HP:0001999	Abnormal facial shape	10134	BCAP31	ORPHA:369939
HP:0001999	Abnormal facial shape	11253	MAN1B1	ORPHA:397941
HP:0001999	Abnormal facial shape	6899	TBX1	ORPHA:3384
HP:0001999	Abnormal facial shape	6899	TBX1	ORPHA:567
HP:0001999	Abnormal facial shape	137814	NKX2-6	ORPHA:3384
HP:0001999	Abnormal facial shape	23129	PLXND1	ORPHA:3384
HP:0001999	Abnormal facial shape	23019	CNOT1	OMIM:619033
HP:0001999	Abnormal facial shape	5393	EXOSC9	OMIM:618065
HP:0001999	Abnormal facial shape	1161	ERCC8	ORPHA:90324
HP:0001999	Abnormal facial shape	1161	ERCC8	ORPHA:90321
HP:0001999	Abnormal facial shape	1161	ERCC8	ORPHA:90322
HP:0001999	Abnormal facial shape	2074	ERCC6	ORPHA:90324
HP:0001999	Abnormal facial shape	2074	ERCC6	ORPHA:90321
HP:0001999	Abnormal facial shape	2074	ERCC6	ORPHA:90322
HP:0001999	Abnormal facial shape	1024	CDK8	OMIM:618748
HP:0001999	Abnormal facial shape	5238	PGM3	ORPHA:443811
HP:0001999	Abnormal facial shape	7355	SLC35A2	ORPHA:356961
HP:0001999	Abnormal facial shape	84282	RNF135	ORPHA:137634
HP:0001999	Abnormal facial shape	9254	CACNA2D2	OMIM:618501
HP:0001999	Abnormal facial shape	5894	RAF1	OMIM:611553
HP:0001999	Abnormal facial shape	10274	STAG1	ORPHA:502434
HP:0001999	Abnormal facial shape	6218	RPS17	OMIM:612527
HP:0001999	Abnormal facial shape	2072	ERCC4	ORPHA:90321
HP:0001999	Abnormal facial shape	23126	POGZ	ORPHA:468678
HP:0001999	Abnormal facial shape	2067	ERCC1	ORPHA:90322
HP:0001999	Abnormal facial shape	5447	POR	ORPHA:95699
HP:0001999	Abnormal facial shape	1836	SLC26A2	ORPHA:56304
HP:0001999	Abnormal facial shape	114803	MYSM1	ORPHA:508542
HP:0001999	Abnormal facial shape	114803	MYSM1	OMIM:618116
HP:0001999	Abnormal facial shape	4784	NFIX	ORPHA:447980
HP:0001999	Abnormal facial shape	10743	RAI1	ORPHA:477817
HP:0001999	Abnormal facial shape	24137	KIF4A	OMIM:300923
HP:0001999	Abnormal facial shape	5830	PEX5	OMIM:202370
HP:0001999	Abnormal facial shape	27245	AHDC1	ORPHA:412069
HP:0001999	Abnormal facial shape	27229	TUBGCP4	OMIM:616335
HP:0001999	Abnormal facial shape	55904	KMT2E	OMIM:618512
HP:0001999	Abnormal facial shape	5631	PRPS1	ORPHA:411536
HP:0001999	Abnormal facial shape	55780	ERMARD	ORPHA:75857
HP:0001999	Abnormal facial shape	9382	COG1	ORPHA:263508
HP:0001999	Abnormal facial shape	9289	ADGRG1	OMIM:606854
HP:0001999	Abnormal facial shape	56992	KIF15	ORPHA:261323
HP:0001999	Abnormal facial shape	84992	PIGY	ORPHA:247262
HP:0001999	Abnormal facial shape	84720	PIGO	ORPHA:247262
HP:0001999	Abnormal facial shape	93210	PGAP3	ORPHA:247262
HP:0001999	Abnormal facial shape	284098	PIGW	ORPHA:247262
HP:0001999	Abnormal facial shape	27315	PGAP2	ORPHA:247262
HP:0001999	Abnormal facial shape	55650	PIGV	ORPHA:247262
HP:0001999	Abnormal facial shape	9487	PIGL	ORPHA:247262
HP:0001999	Abnormal facial shape	5832	ALDH18A1	OMIM:616586
HP:0001999	Abnormal facial shape	5832	ALDH18A1	ORPHA:90348
HP:0001999	Abnormal facial shape	5832	ALDH18A1	ORPHA:447760
HP:0001999	Abnormal facial shape	284058	KANSL1	ORPHA:363958
HP:0001999	Abnormal facial shape	284058	KANSL1	ORPHA:363965
HP:0001999	Abnormal facial shape	191	AHCY	OMIM:613752
HP:0001999	Abnormal facial shape	191	AHCY	ORPHA:88618
HP:0001999	Abnormal facial shape	7994	KAT6A	ORPHA:457193
HP:0001999	Abnormal facial shape	79184	BRCC3	ORPHA:280679
HP:0001999	Abnormal facial shape	7080	NKX2-1	ORPHA:209905
HP:0001999	Abnormal facial shape	4313	MMP2	ORPHA:371428
HP:0001999	Abnormal facial shape	4323	MMP14	ORPHA:371428
HP:0001999	Abnormal facial shape	6872	TAF1	ORPHA:480907
HP:0001999	Abnormal facial shape	283989	TSEN54	ORPHA:166063
HP:0001999	Abnormal facial shape	283989	TSEN54	ORPHA:2524
HP:0001999	Abnormal facial shape	9839	ZEB2	ORPHA:261552
HP:0001999	Abnormal facial shape	9839	ZEB2	ORPHA:261537
HP:0001999	Abnormal facial shape	633	BGN	OMIM:300106
HP:0001999	Abnormal facial shape	51651	PTRH2	ORPHA:456312
HP:0001999	Abnormal facial shape	4763	NF1	ORPHA:363700
HP:0001999	Abnormal facial shape	4763	NF1	ORPHA:97685
HP:0001999	Abnormal facial shape	26053	AUTS2	ORPHA:352490
HP:0001999	Abnormal facial shape	2903	GRIN2A	ORPHA:289266
HP:0001999	Abnormal facial shape	54872	PIGG	ORPHA:488635
HP:0001999	Abnormal facial shape	10352	WARS2	ORPHA:572798
HP:0001999	Abnormal facial shape	93627	TBCK	ORPHA:488632
HP:0001999	Abnormal facial shape	5728	PTEN	ORPHA:79076
HP:0001999	Abnormal facial shape	657	BMPR1A	ORPHA:79076
HP:0001999	Abnormal facial shape	175	AGA	ORPHA:93
HP:0001999	Abnormal facial shape	4853	NOTCH2	ORPHA:955
HP:0001999	Abnormal facial shape	54496	PRMT7	ORPHA:464288
HP:0001999	Abnormal facial shape	165	AEBP1	ORPHA:536532
HP:0001999	Abnormal facial shape	374654	KIF7	OMIM:607131
HP:0001999	Abnormal facial shape	1499	CTNNB1	ORPHA:404473
HP:0001999	Abnormal facial shape	4534	MTM1	ORPHA:596
HP:0001999	Abnormal facial shape	129563	DIS3L2	OMIM:267000
HP:0001999	Abnormal facial shape	10804	GJB6	ORPHA:477
HP:0001999	Abnormal facial shape	2706	GJB2	ORPHA:477
HP:0001999	Abnormal facial shape	7025	NR2F1	ORPHA:401777
HP:0001999	Abnormal facial shape	5626	PROP1	ORPHA:226307
HP:0001999	Abnormal facial shape	89884	LHX4	ORPHA:226307
HP:0001999	Abnormal facial shape	8022	LHX3	ORPHA:226307
HP:0001999	Abnormal facial shape	5449	POU1F1	ORPHA:226307
HP:0001999	Abnormal facial shape	8820	HESX1	ORPHA:226307
HP:0001999	Abnormal facial shape	4613	MYCN	OMIM:620748
HP:0001999	Abnormal facial shape	4613	MYCN	ORPHA:391641
HP:0001999	Abnormal facial shape	79633	FAT4	OMIM:616006
HP:0001999	Abnormal facial shape	79633	FAT4	ORPHA:2136
HP:0001999	Abnormal facial shape	79633	FAT4	ORPHA:314679
HP:0001999	Abnormal facial shape	9508	ADAMTS3	ORPHA:2136
HP:0001999	Abnormal facial shape	147372	CCBE1	ORPHA:2136
HP:0001999	Abnormal facial shape	1660	DHX9	OMIM:620988
HP:0001999	Abnormal facial shape	3748	KCNC3	ORPHA:98768
HP:0001999	Abnormal facial shape	6134	RPL10	ORPHA:459070
HP:0001999	Abnormal facial shape	6134	RPL10	ORPHA:435938
HP:0001999	Abnormal facial shape	1859	DYRK1A	ORPHA:464311
HP:0001999	Abnormal facial shape	1859	DYRK1A	ORPHA:268261
HP:0001999	Abnormal facial shape	2517	FUCA1	ORPHA:349
HP:0001999	Abnormal facial shape	85365	ALG2	ORPHA:79326
HP:0001999	Abnormal facial shape	56052	ALG1	ORPHA:79327
HP:0001999	Abnormal facial shape	4247	MGAT2	ORPHA:79329
HP:0001999	Abnormal facial shape	79228	THOC6	ORPHA:363444
HP:0001999	Abnormal facial shape	8905	AP1S2	ORPHA:85329
HP:0001999	Abnormal facial shape	79813	EHMT1	ORPHA:261652
HP:0001999	Abnormal facial shape	58508	KMT2C	ORPHA:261652
HP:0001999	Abnormal facial shape	58508	KMT2C	OMIM:617768
HP:0001999	Abnormal facial shape	50485	SMARCAL1	ORPHA:1830
HP:0001999	Abnormal facial shape	81887	LAS1L	ORPHA:3459
HP:0001999	Abnormal facial shape	55869	HDAC8	ORPHA:3459
HP:0001999	Abnormal facial shape	3845	KRAS	ORPHA:3339
HP:0001999	Abnormal facial shape	2620	GAS2	OMIM:620877
HP:0001999	Abnormal facial shape	3708	ITPR1	OMIM:117360
HP:0001999	Abnormal facial shape	3708	ITPR1	OMIM:206700
HP:0001999	Abnormal facial shape	2263	FGFR2	ORPHA:2363
HP:0001999	Abnormal facial shape	2263	FGFR2	ORPHA:207
HP:0001999	Abnormal facial shape	2261	FGFR3	ORPHA:2363
HP:0001999	Abnormal facial shape	2255	FGF10	ORPHA:2363
HP:0001999	Abnormal facial shape	8642	DCHS1	ORPHA:314679
HP:0001999	Abnormal facial shape	7841	MOGS	ORPHA:79330
HP:0001999	Abnormal facial shape	388015	RTL1	ORPHA:96334
HP:0001999	Abnormal facial shape	8788	DLK1	ORPHA:96334
HP:0001999	Abnormal facial shape	55384	MEG3	ORPHA:96334
HP:0001999	Abnormal facial shape	2324	FLT4	ORPHA:79452
HP:0001999	Abnormal facial shape	9780	PIEZO1	ORPHA:79452
HP:0001999	Abnormal facial shape	285	ANGPT2	ORPHA:79452
HP:0001999	Abnormal facial shape	57165	GJC2	ORPHA:79452
HP:0001999	Abnormal facial shape	2683	B4GALT1	ORPHA:79332
HP:0001999	Abnormal facial shape	91949	COG7	ORPHA:79333
HP:0001999	Abnormal facial shape	3718	JAK3	ORPHA:35078
HP:0001999	Abnormal facial shape	23065	EMC1	ORPHA:480898
HP:0001999	Abnormal facial shape	51567	TDP2	ORPHA:404493
HP:0001999	Abnormal facial shape	23314	SATB2	ORPHA:576283
HP:0001999	Abnormal facial shape	23314	SATB2	ORPHA:251028
HP:0001999	Abnormal facial shape	158	ADSL	ORPHA:46
HP:0001999	Abnormal facial shape	5373	PMM2	ORPHA:79318
HP:0001999	Abnormal facial shape	22880	MORC2	OMIM:619090
HP:0001999	Abnormal facial shape	22880	MORC2	ORPHA:466768
HP:0001999	Abnormal facial shape	8218	CLTCL1	ORPHA:453510
HP:0001999	Abnormal facial shape	5308	PITX2	OMIM:137600
HP:0001999	Abnormal facial shape	2006	ELN	ORPHA:90348
HP:0001999	Abnormal facial shape	10516	FBLN5	ORPHA:90348
HP:0001999	Abnormal facial shape	10516	FBLN5	ORPHA:90349
HP:0001999	Abnormal facial shape	54916	TMEM260	OMIM:617478
HP:0001999	Abnormal facial shape	4052	LTBP1	ORPHA:90349
HP:0001999	Abnormal facial shape	30008	EFEMP2	ORPHA:90349
HP:0001999	Abnormal facial shape	84317	CCDC115	OMIM:616828
HP:0001999	Abnormal facial shape	2316	FLNA	ORPHA:1826
HP:0001999	Abnormal facial shape	2316	FLNA	OMIM:300048
HP:0001999	Abnormal facial shape	6885	MAP3K7	ORPHA:1826
HP:0001999	Abnormal facial shape	51322	WAC	ORPHA:466950
HP:0001999	Abnormal facial shape	29929	ALG6	ORPHA:79320
HP:0001999	Abnormal facial shape	6509	SLC1A4	ORPHA:447997
HP:0001999	Abnormal facial shape	79087	ALG12	ORPHA:79324
HP:0001999	Abnormal facial shape	6513	SLC2A1	ORPHA:1942
HP:0001999	Abnormal facial shape	8831	SYNGAP1	ORPHA:1942
HP:0001999	Abnormal facial shape	8831	SYNGAP1	ORPHA:544254
HP:0001999	Abnormal facial shape	1173	AP2M1	ORPHA:1942
HP:0001999	Abnormal facial shape	6323	SCN1A	ORPHA:1942
HP:0001999	Abnormal facial shape	340533	NEXMIF	ORPHA:1942
HP:0001999	Abnormal facial shape	1106	CHD2	ORPHA:1942
HP:0001999	Abnormal facial shape	6529	SLC6A1	ORPHA:1942
HP:0001999	Abnormal facial shape	79053	ALG8	ORPHA:79325
HP:0001999	Abnormal facial shape	9896	FIG4	ORPHA:208441
HP:0001999	Abnormal facial shape	25970	SH2B1	ORPHA:261197
HP:0001999	Abnormal facial shape	55690	PACS1	ORPHA:329224
HP:0001999	Abnormal facial shape	1134	CHRNA1	OMIM:253290
HP:0001999	Abnormal facial shape	1146	CHRNG	OMIM:253290
HP:0001999	Abnormal facial shape	1144	CHRND	OMIM:253290
HP:0001999	Abnormal facial shape	196528	ARID2	OMIM:617808
HP:0001999	Abnormal facial shape	196528	ARID2	ORPHA:1465
HP:0001999	Abnormal facial shape	165918	RNF168	OMIM:611943
HP:0001999	Abnormal facial shape	165918	RNF168	ORPHA:420741
HP:0001999	Abnormal facial shape	90417	KNSTRN	OMIM:613328
HP:0001999	Abnormal facial shape	90417	KNSTRN	ORPHA:221139
HP:0001999	Abnormal facial shape	5293	PIK3CD	OMIM:613328
HP:0001999	Abnormal facial shape	5293	PIK3CD	ORPHA:221139
HP:0001999	Abnormal facial shape	60495	HPSE2	OMIM:236730
HP:0001999	Abnormal facial shape	1801	DPH1	ORPHA:459061
HP:0001999	Abnormal facial shape	1802	DPH2	ORPHA:459061
HP:0001999	Abnormal facial shape	6023	RMRP	OMIM:250460
HP:0001999	Abnormal facial shape	4126	MANBA	ORPHA:118
HP:0001999	Abnormal facial shape	4126	MANBA	OMIM:248510
HP:0001999	Abnormal facial shape	3479	IGF1	ORPHA:73272
HP:0001999	Abnormal facial shape	274	BIN1	ORPHA:169186
HP:0001999	Abnormal facial shape	10290	SPEG	ORPHA:169186
HP:0001999	Abnormal facial shape	6261	RYR1	ORPHA:169186
HP:0001999	Abnormal facial shape	7273	TTN	ORPHA:169186
HP:0001999	Abnormal facial shape	9158	FIBP	ORPHA:500095
HP:0001999	Abnormal facial shape	22856	CHSY1	ORPHA:363417
HP:0001999	Abnormal facial shape	5193	PEX12	OMIM:266510
HP:0001999	Abnormal facial shape	123606	NIPA1	ORPHA:261183
HP:0001999	Abnormal facial shape	7283	TUBG1	ORPHA:261183
HP:0001999	Abnormal facial shape	81614	NIPA2	ORPHA:261183
HP:0001999	Abnormal facial shape	57102	FERRY3	OMIM:618221
HP:0001999	Abnormal facial shape	51621	KLF13	OMIM:612001
HP:0001999	Abnormal facial shape	1139	CHRNA7	OMIM:612001
HP:0001999	Abnormal facial shape	9698	PUM1	OMIM:617931
HP:0001999	Abnormal facial shape	92335	STRADA	ORPHA:500533
HP:0001999	Abnormal facial shape	8818	DPM2	ORPHA:329178
HP:0001999	Abnormal facial shape	57122	NUP107	OMIM:618348
HP:0001999	Abnormal facial shape	57122	NUP107	OMIM:616730
HP:0001999	Abnormal facial shape	253738	EBF3	ORPHA:96148
HP:0001999	Abnormal facial shape	79796	ALG9	OMIM:608776
HP:0001999	Abnormal facial shape	6888	TALDO1	ORPHA:101028
HP:0001999	Abnormal facial shape	9150	CTDP1	OMIM:604168
HP:0001999	Abnormal facial shape	2972	BRF1	ORPHA:444072
HP:0001999	Abnormal facial shape	1387	CREBBP	ORPHA:353281
HP:0001999	Abnormal facial shape	1387	CREBBP	ORPHA:353277
HP:0001999	Abnormal facial shape	5649	RELN	ORPHA:89844
HP:0001999	Abnormal facial shape	10300	KATNB1	ORPHA:89844
HP:0001999	Abnormal facial shape	54820	NDE1	ORPHA:89844
HP:0001999	Abnormal facial shape	5160	PDHA1	OMIM:312170
HP:0001999	Abnormal facial shape	5160	PDHA1	ORPHA:79243
HP:0001999	Abnormal facial shape	6492	SIM1	ORPHA:171829
HP:0001999	Abnormal facial shape	6492	SIM1	ORPHA:398079
HP:0001999	Abnormal facial shape	10157	AASS	ORPHA:2203
HP:0001999	Abnormal facial shape	998	CDC42	OMIM:616737
HP:0001999	Abnormal facial shape	998	CDC42	ORPHA:487796
HP:0001999	Abnormal facial shape	1654	DDX3X	ORPHA:457260
HP:0001999	Abnormal facial shape	2033	EP300	ORPHA:353284
HP:0001999	Abnormal facial shape	9837	GINS1	OMIM:617827
HP:0001999	Abnormal facial shape	2720	GLB1	ORPHA:79255
HP:0001999	Abnormal facial shape	5053	PAH	ORPHA:2209
HP:0001999	Abnormal facial shape	526	ATP6V1B2	ORPHA:79499
HP:0001999	Abnormal facial shape	427	ASAH1	ORPHA:333
HP:0001999	Abnormal facial shape	473	RERE	ORPHA:494344
HP:0001999	Abnormal facial shape	6638	SNRPN	ORPHA:177904
HP:0001999	Abnormal facial shape	6638	SNRPN	ORPHA:177910
HP:0001999	Abnormal facial shape	6638	SNRPN	ORPHA:177907
HP:0001999	Abnormal facial shape	6638	SNRPN	ORPHA:411515
HP:0001999	Abnormal facial shape	4692	NDN	ORPHA:177904
HP:0001999	Abnormal facial shape	4692	NDN	ORPHA:177910
HP:0001999	Abnormal facial shape	54551	MAGEL2	ORPHA:177904
HP:0001999	Abnormal facial shape	54551	MAGEL2	ORPHA:398069
HP:0001999	Abnormal facial shape	54551	MAGEL2	ORPHA:177910
HP:0001999	Abnormal facial shape	4948	OCA2	ORPHA:177904
HP:0001999	Abnormal facial shape	5994	RFXAP	ORPHA:572
HP:0001999	Abnormal facial shape	4261	CIITA	ORPHA:572
HP:0001999	Abnormal facial shape	5993	RFX5	ORPHA:572
HP:0001999	Abnormal facial shape	8625	RFXANK	ORPHA:572
HP:0001999	Abnormal facial shape	8925	HERC1	ORPHA:457359
HP:0001999	Abnormal facial shape	7874	USP7	OMIM:616863
HP:0001999	Abnormal facial shape	7874	USP7	ORPHA:500055
HP:0001999	Abnormal facial shape	6597	SMARCA4	ORPHA:1465
HP:0001999	Abnormal facial shape	6598	SMARCB1	ORPHA:1465
HP:0001999	Abnormal facial shape	6659	SOX4	ORPHA:1465
HP:0001999	Abnormal facial shape	8289	ARID1A	ORPHA:1465
HP:0001999	Abnormal facial shape	5977	DPF2	ORPHA:1465
HP:0001999	Abnormal facial shape	6601	SMARCC2	ORPHA:1465
HP:0001999	Abnormal facial shape	6602	SMARCD1	ORPHA:1465
HP:0001999	Abnormal facial shape	57492	ARID1B	ORPHA:1465
HP:0001999	Abnormal facial shape	6605	SMARCE1	ORPHA:1465
HP:0001999	Abnormal facial shape	6664	SOX11	ORPHA:1465
HP:0001999	Abnormal facial shape	29920	PYCR2	ORPHA:481152
HP:0001999	Abnormal facial shape	2077	ERF	ORPHA:207
HP:0001999	Abnormal facial shape	9361	LONP1	ORPHA:79243
HP:0001999	Abnormal facial shape	1312	COMT	ORPHA:567
HP:0001999	Abnormal facial shape	221037	JMJD1C	ORPHA:567
HP:0001999	Abnormal facial shape	2812	GP1BB	ORPHA:567
HP:0001999	Abnormal facial shape	6239	RREB1	ORPHA:567
HP:0001999	Abnormal facial shape	7290	HIRA	ORPHA:567
HP:0001999	Abnormal facial shape	9632	SEC24C	ORPHA:567
HP:0001999	Abnormal facial shape	7353	UFD1	ORPHA:567
HP:0001999	Abnormal facial shape	421	ARVCF	ORPHA:567
HP:0001999	Abnormal facial shape	54539	NDUFB11	ORPHA:2556
HP:0001999	Abnormal facial shape	1349	COX7B	ORPHA:2556
HP:0001999	Abnormal facial shape	3052	HCCS	ORPHA:2556
HP:0001999	Abnormal facial shape	84188	FAR1	ORPHA:438178
HP:0001999	Abnormal facial shape	5147	PDE6D	OMIM:615665
HP:0001999	Abnormal facial shape	83696	TRAPPC9	ORPHA:352530
HP:0001999	Abnormal facial shape	2475	MTOR	ORPHA:457485
HP:0001999	Abnormal facial shape	25839	COG4	OMIM:613489
HP:0001999	Abnormal facial shape	124997	WDR81	OMIM:617967
HP:0001999	Abnormal facial shape	5723	PSPH	ORPHA:79350
HP:0001999	Abnormal facial shape	26227	PHGDH	ORPHA:79351
HP:0001999	Abnormal facial shape	760	CA2	ORPHA:2785
HP:0001999	Abnormal facial shape	80185	TTI2	ORPHA:391307
HP:0001999	Abnormal facial shape	3028	HSD17B10	ORPHA:391428
HP:0001999	Abnormal facial shape	11285	B4GALT7	ORPHA:75496
HP:0001999	Abnormal facial shape	9997	SCO2	OMIM:604377
HP:0001999	Abnormal facial shape	6611	SMS	ORPHA:3063
HP:0001999	Abnormal facial shape	2464	FRA16E	OMIM:136570
HP:0001999	Abnormal facial shape	10664	CTCF	ORPHA:363611
HP:0001999	Abnormal facial shape	6711	SPTBN1	OMIM:619475
HP:0001999	Abnormal facial shape	26005	C2CD3	ORPHA:434179
HP:0001999	Abnormal facial shape	9894	TELO2	ORPHA:488642
HP:0001999	Abnormal facial shape	4983	OPHN1	ORPHA:137831
HP:0001999	Abnormal facial shape	259232	NALCN	ORPHA:371364
HP:0001999	Abnormal facial shape	285175	UNC80	ORPHA:371364
HP:0001999	Abnormal facial shape	25914	RTTN	ORPHA:468631
HP:0001999	Abnormal facial shape	4796	TONSL	ORPHA:93357
HP:0001999	Abnormal facial shape	7040	TGFB1	ORPHA:1328
HP:0001999	Abnormal facial shape	5184	PEPD	ORPHA:742
HP:0001999	Abnormal facial shape	10128	LRPPRC	ORPHA:70472
HP:0001999	Abnormal facial shape	28514	DLL1	OMIM:618709
HP:0001999	Abnormal facial shape	10283	CWC27	ORPHA:166035
HP:0001999	Abnormal facial shape	2887	GRB10	ORPHA:96182
HP:0001999	Abnormal facial shape	84172	POLR1B	ORPHA:861
HP:0001999	Abnormal facial shape	9533	POLR1C	ORPHA:861
HP:0001999	Abnormal facial shape	51082	POLR1D	ORPHA:861
HP:0001999	Abnormal facial shape	6949	TCOF1	ORPHA:861
HP:0001999	Abnormal facial shape	113189	CHST14	OMIM:601776
HP:0001999	Abnormal facial shape	5162	PDHB	ORPHA:255138
HP:0001999	Abnormal facial shape	22796	COG2	ORPHA:435934
HP:0001999	Abnormal facial shape	374879	ZNF699	OMIM:619488
HP:0001999	Abnormal facial shape	440138	ALG11	ORPHA:280071
HP:0001999	Abnormal facial shape	83737	ITCH	OMIM:613385
HP:0001999	Abnormal facial shape	83737	ITCH	ORPHA:228426
HP:0001999	Abnormal facial shape	116461	TSEN15	ORPHA:2524
HP:0001999	Abnormal facial shape	79042	TSEN34	ORPHA:2524
HP:0001999	Abnormal facial shape	80746	TSEN2	ORPHA:2524
HP:0001999	Abnormal facial shape	51091	SEPSECS	ORPHA:2524
HP:0001999	Abnormal facial shape	9373	PLAA	ORPHA:521426
HP:0001999	Abnormal facial shape	8292	COLQ	ORPHA:98915
HP:0001999	Abnormal facial shape	3913	LAMB2	ORPHA:98915
HP:0001999	Abnormal facial shape	93587	TRMT10A	ORPHA:391408
HP:0001999	Abnormal facial shape	84919	PPP1R15B	ORPHA:391408
HP:0001999	Abnormal facial shape	407975	MIR17HG	ORPHA:391646
HP:0001999	Abnormal facial shape	4841	NONO	ORPHA:466791
HP:0001999	Abnormal facial shape	6748	SSR4	ORPHA:370927
HP:0001999	Abnormal facial shape	5528	PPP2R5D	ORPHA:457279
HP:0001999	Abnormal facial shape	6651	SON	ORPHA:500150
HP:0001999	Abnormal facial shape	51317	PHF21A	OMIM:618725
HP:0001999	Abnormal facial shape	10273	STUB1	ORPHA:412057
HP:0001999	Abnormal facial shape	131118	DNAJC19	ORPHA:66634
HP:0001999	Abnormal facial shape	5879	RAC1	ORPHA:500159
HP:0001999	Abnormal facial shape	8777	MPDZ	OMIM:615219
HP:0001999	Abnormal facial shape	25974	MMACHC	ORPHA:79282
HP:0001999	Abnormal facial shape	55788	LMBRD1	ORPHA:79284
HP:0001999	Abnormal facial shape	10020	GNE	ORPHA:3166
HP:0001999	Abnormal facial shape	10295	BCKDK	OMIM:614923
HP:0001999	Abnormal facial shape	5468	PPARG	ORPHA:528
HP:0001999	Abnormal facial shape	10555	AGPAT2	ORPHA:528
HP:0001999	Abnormal facial shape	284119	CAVIN1	ORPHA:528
HP:0001999	Abnormal facial shape	26580	BSCL2	ORPHA:528
HP:0001999	Abnormal facial shape	2353	FOS	ORPHA:528
HP:0001999	Abnormal facial shape	857	CAV1	ORPHA:528
HP:0001999	Abnormal facial shape	5286	PIK3C2A	ORPHA:557003
HP:0001999	Abnormal facial shape	79644	SRD5A3	ORPHA:324737
HP:0001999	Abnormal facial shape	23309	SIN3B	ORPHA:500166
HP:0001999	Abnormal facial shape	25942	SIN3A	ORPHA:500166
HP:0001999	Abnormal facial shape	91574	MTRFR	ORPHA:320375
HP:0001999	Abnormal facial shape	5699	PSMB10	OMIM:620807
HP:0001999	Abnormal facial shape	5087	PBX1	OMIM:617641
HP:0001999	Abnormal facial shape	23001	WDFY3	OMIM:617520
HP:0001999	Abnormal facial shape	35	ACADS	ORPHA:26792
HP:0001999	Abnormal facial shape	51109	RDH11	ORPHA:436245
HP:0001999	Abnormal facial shape	4281	MID1	ORPHA:2745
HP:0001999	Abnormal facial shape	9652	SKIC3	ORPHA:84064
HP:0001999	Abnormal facial shape	6499	SKIC2	ORPHA:84064
HP:0001999	Abnormal facial shape	11342	RNF13	ORPHA:544503
HP:0001999	Abnormal facial shape	5130	PCYT1A	OMIM:608940
HP:0001999	Abnormal facial shape	7337	UBE3A	ORPHA:411515
HP:0001999	Abnormal facial shape	57194	ATP10A	ORPHA:411515
HP:0001999	Abnormal facial shape	3480	IGF1R	OMIM:270450
HP:0001999	Abnormal facial shape	2110	ETFDH	OMIM:231680
HP:0001999	Abnormal facial shape	2108	ETFA	OMIM:231680
HP:0001999	Abnormal facial shape	2109	ETFB	OMIM:231680
HP:0001999	Abnormal facial shape	2690	GHR	ORPHA:633
HP:0001999	Abnormal facial shape	6235	RPS29	OMIM:615909
HP:0001999	Abnormal facial shape	3762	KCNJ5	ORPHA:37553
HP:0001999	Abnormal facial shape	3759	KCNJ2	ORPHA:37553
HP:0001999	Abnormal facial shape	26281	FGF20	OMIM:615721
HP:0001999	Abnormal facial shape	1636	ACE	OMIM:267430
HP:0001999	Abnormal facial shape	183	AGT	OMIM:267430
HP:0001999	Abnormal facial shape	185	AGTR1	OMIM:267430
HP:0001999	Abnormal facial shape	5972	REN	OMIM:267430
HP:0001999	Abnormal facial shape	7317	UBA1	ORPHA:1145
HP:0001999	Abnormal facial shape	2674	GFRA1	OMIM:619887
HP:0001999	Abnormal facial shape	5076	PAX2	ORPHA:97362
HP:0001999	Abnormal facial shape	8516	ITGA8	OMIM:191830
HP:0001999	Abnormal facial shape	55165	CEP55	OMIM:236500
HP:0001999	Abnormal facial shape	27031	NPHP3	OMIM:208540
HP:0001999	Abnormal facial shape	5314	PKHD1	OMIM:263200
HP:0001999	Abnormal facial shape	341208	HEPHL1	OMIM:261990
HP:0001999	Abnormal facial shape	2193	FARSA	OMIM:619013
HP:0001999	Abnormal facial shape	7468	NSD2	OMIM:194190
HP:0001999	Abnormal facial shape	10815	CPLX1	OMIM:194190
HP:0001999	Abnormal facial shape	1487	CTBP1	OMIM:194190
HP:0001999	Abnormal facial shape	53834	FGFRL1	OMIM:194190
HP:0001999	Abnormal facial shape	3954	LETM1	OMIM:194190
HP:0001999	Abnormal facial shape	3736	KCNA1	ORPHA:37612
HP:0001999	Abnormal facial shape	7314	UBB	ORPHA:99772
HP:0001999	Abnormal facial shape	57822	GRHL3	ORPHA:99772
HP:0001999	Abnormal facial shape	860	RUNX2	ORPHA:1452
HP:0001999	Abnormal facial shape	2260	FGFR1	ORPHA:99798
HP:0001999	Abnormal facial shape	4487	MSX1	ORPHA:99798
HP:0001999	Abnormal facial shape	128178	EDARADD	ORPHA:99798
HP:0001999	Abnormal facial shape	5083	PAX9	ORPHA:99798
HP:0001999	Abnormal facial shape	7341	SUMO1	ORPHA:99798
HP:0001999	Abnormal facial shape	1896	EDA	ORPHA:99798
HP:0001999	Abnormal facial shape	8313	AXIN2	ORPHA:99798
HP:0001999	Abnormal facial shape	3664	IRF6	ORPHA:99798
HP:0001999	Abnormal facial shape	4040	LRP6	ORPHA:99798
HP:0001999	Abnormal facial shape	7039	TGFA	ORPHA:99798
HP:0001999	Abnormal facial shape	7480	WNT10B	ORPHA:99798
HP:0001999	Abnormal facial shape	26275	HIBCH	ORPHA:88639
HP:0001999	Abnormal facial shape	9949	AMMECR1	OMIM:300990
HP:0001999	Abnormal facial shape	5885	RAD21	OMIM:614701
HP:0001999	Abnormal facial shape	347734	SLC35B2	OMIM:620269
HP:0001999	Abnormal facial shape	5077	PAX3	ORPHA:1529
HP:0001999	Abnormal facial shape	5077	PAX3	OMIM:122880
HP:0001999	Abnormal facial shape	28960	DCPS	OMIM:616459
HP:0001999	Abnormal facial shape	10982	MAPRE2	OMIM:616734
HP:0001999	Abnormal facial shape	999	CDH1	OMIM:119580
HP:0001999	Abnormal facial shape	4148	MATN3	ORPHA:156728
HP:0001999	Abnormal facial shape	4148	MATN3	OMIM:608728
HP:0001999	Abnormal facial shape	818	CAMK2G	OMIM:618522
HP:0001999	Abnormal facial shape	10082	GPC6	OMIM:258315
HP:0001999	Abnormal facial shape	10606	PAICS	OMIM:619859
HP:0001999	Abnormal facial shape	5191	PEX7	OMIM:215100
HP:0001999	Abnormal facial shape	3339	HSPG2	ORPHA:1865
HP:0001999	Abnormal facial shape	3339	HSPG2	OMIM:224410
HP:0001999	Abnormal facial shape	3339	HSPG2	OMIM:255800
HP:0001999	Abnormal facial shape	3339	HSPG2	ORPHA:800
HP:0001999	Abnormal facial shape	1281	COL3A1	ORPHA:286
HP:0001999	Abnormal facial shape	54968	TMEM70	OMIM:614052
HP:0001999	Abnormal facial shape	4330	MN1	OMIM:618774
HP:0001999	Abnormal facial shape	8985	PLOD3	OMIM:612394
HP:0001999	Abnormal facial shape	29128	UHRF1	ORPHA:2268
HP:0001999	Abnormal facial shape	3070	HELLS	ORPHA:2268
HP:0001999	Abnormal facial shape	1789	DNMT3B	ORPHA:2268
HP:0001999	Abnormal facial shape	1789	DNMT3B	OMIM:242860
HP:0001999	Abnormal facial shape	83879	CDCA7	ORPHA:2268
HP:0001999	Abnormal facial shape	83879	CDCA7	OMIM:616910
HP:0001999	Abnormal facial shape	55012	PPP2R3C	OMIM:618419
HP:0001999	Abnormal facial shape	55969	RAB5IF	OMIM:616994
HP:0001999	Abnormal facial shape	139285	AMER1	ORPHA:2780
HP:0001999	Abnormal facial shape	3835	KIF22	ORPHA:93360
HP:0001999	Abnormal facial shape	9851	KIAA0753	OMIM:619479
HP:0001999	Abnormal facial shape	9851	KIAA0753	OMIM:617127
HP:0001999	Abnormal facial shape	5063	PAK3	OMIM:300558
HP:0001999	Abnormal facial shape	4659	PPP1R12A	OMIM:618820
HP:0001999	Abnormal facial shape	54499	TMCO1	OMIM:213980
HP:0001999	Abnormal facial shape	2317	FLNB	ORPHA:503
HP:0001999	Abnormal facial shape	2317	FLNB	OMIM:150250
HP:0001999	Abnormal facial shape	23545	ATP6V0A2	OMIM:219200
HP:0001999	Abnormal facial shape	4094	MAF	ORPHA:1272
HP:0001999	Abnormal facial shape	4094	MAF	OMIM:601088
HP:0001999	Abnormal facial shape	2571	GAD1	OMIM:619124
HP:0001999	Abnormal facial shape	203068	TUBB	OMIM:156610
HP:0001999	Abnormal facial shape	54928	BPNT2	OMIM:614078
HP:0001999	Abnormal facial shape	202018	TAPT1	OMIM:616897
HP:0001999	Abnormal facial shape	55670	PEX26	OMIM:614872
HP:0001999	Abnormal facial shape	55670	PEX26	ORPHA:912
HP:0001999	Abnormal facial shape	4920	ROR2	OMIM:268310
HP:0001999	Abnormal facial shape	9321	TRIP11	OMIM:200600
HP:0001999	Abnormal facial shape	9321	TRIP11	ORPHA:93299
HP:0001999	Abnormal facial shape	64116	SLC39A8	ORPHA:468699
HP:0001999	Abnormal facial shape	7474	WNT5A	OMIM:180700
HP:0001999	Abnormal facial shape	1855	DVL1	OMIM:180700
HP:0001999	Abnormal facial shape	50945	TBX22	ORPHA:921
HP:0001999	Abnormal facial shape	1297	COL9A1	OMIM:614134
HP:0001999	Abnormal facial shape	1297	COL9A1	ORPHA:250984
HP:0001999	Abnormal facial shape	1298	COL9A2	ORPHA:250984
HP:0001999	Abnormal facial shape	1299	COL9A3	ORPHA:250984
HP:0001999	Abnormal facial shape	8504	PEX3	ORPHA:912
HP:0001999	Abnormal facial shape	8799	PEX11B	ORPHA:912
HP:0001999	Abnormal facial shape	9409	PEX16	ORPHA:912
HP:0001999	Abnormal facial shape	5192	PEX10	ORPHA:912
HP:0001999	Abnormal facial shape	112858	TP53RK	OMIM:617730
HP:0001999	Abnormal facial shape	9244	CRLF1	OMIM:272430
HP:0001999	Abnormal facial shape	9244	CRLF1	ORPHA:1545
HP:0001999	Abnormal facial shape	23529	CLCF1	ORPHA:1545
HP:0001999	Abnormal facial shape	5566	PRKACA	OMIM:615830
HP:0001999	Abnormal facial shape	23028	KDM1A	ORPHA:189427
HP:0001999	Abnormal facial shape	84196	USP48	ORPHA:96253
HP:0001999	Abnormal facial shape	7157	TP53	ORPHA:96253
HP:0001999	Abnormal facial shape	9101	USP8	ORPHA:96253
HP:0001999	Abnormal facial shape	64072	CDH23	ORPHA:96253
HP:0001999	Abnormal facial shape	2908	NR3C1	ORPHA:96253
HP:0000327	Hypoplasia of the maxilla	7291	TWIST1	ORPHA:794
HP:0000327	Hypoplasia of the maxilla	7291	TWIST1	OMIM:101400
HP:0000327	Hypoplasia of the maxilla	2263	FGFR2	ORPHA:794
HP:0000327	Hypoplasia of the maxilla	2263	FGFR2	OMIM:123500
HP:0000327	Hypoplasia of the maxilla	2263	FGFR2	ORPHA:87
HP:0000327	Hypoplasia of the maxilla	2263	FGFR2	ORPHA:207
HP:0000327	Hypoplasia of the maxilla	2263	FGFR2	OMIM:101400
HP:0000327	Hypoplasia of the maxilla	2263	FGFR2	ORPHA:1540
HP:0000327	Hypoplasia of the maxilla	2263	FGFR2	OMIM:101600
HP:0000327	Hypoplasia of the maxilla	2261	FGFR3	ORPHA:794
HP:0000327	Hypoplasia of the maxilla	2261	FGFR3	ORPHA:93262
HP:0000327	Hypoplasia of the maxilla	5573	PRKAR1A	ORPHA:950
HP:0000327	Hypoplasia of the maxilla	5573	PRKAR1A	OMIM:101800
HP:0000327	Hypoplasia of the maxilla	5144	PDE4D	ORPHA:950
HP:0000327	Hypoplasia of the maxilla	5144	PDE4D	ORPHA:439822
HP:0000327	Hypoplasia of the maxilla	2245	FGD1	OMIM:305400
HP:0000327	Hypoplasia of the maxilla	2245	FGD1	ORPHA:915
HP:0000327	Hypoplasia of the maxilla	10617	STAMBP	OMIM:614261
HP:0000327	Hypoplasia of the maxilla	22856	CHSY1	ORPHA:363417
HP:0000327	Hypoplasia of the maxilla	26128	KIFBP	OMIM:609460
HP:0000327	Hypoplasia of the maxilla	652	BMP4	ORPHA:828
HP:0000327	Hypoplasia of the maxilla	652	BMP4	ORPHA:199306
HP:0000327	Hypoplasia of the maxilla	5077	PAX3	ORPHA:1529
HP:0000327	Hypoplasia of the maxilla	5077	PAX3	OMIM:122880
HP:0000327	Hypoplasia of the maxilla	10992	SF3B2	OMIM:164210
HP:0000327	Hypoplasia of the maxilla	8626	TP63	OMIM:604292
HP:0000327	Hypoplasia of the maxilla	8626	TP63	ORPHA:199306
HP:0000327	Hypoplasia of the maxilla	8626	TP63	OMIM:106260
HP:0000327	Hypoplasia of the maxilla	8626	TP63	OMIM:129400
HP:0000327	Hypoplasia of the maxilla	10084	PQBP1	ORPHA:93950
HP:0000327	Hypoplasia of the maxilla	10084	PQBP1	ORPHA:93945
HP:0000327	Hypoplasia of the maxilla	5308	PITX2	ORPHA:782
HP:0000327	Hypoplasia of the maxilla	5308	PITX2	OMIM:180500
HP:0000327	Hypoplasia of the maxilla	2296	FOXC1	ORPHA:782
HP:0000327	Hypoplasia of the maxilla	7314	UBB	ORPHA:99772
HP:0000327	Hypoplasia of the maxilla	57822	GRHL3	ORPHA:99772
HP:0000327	Hypoplasia of the maxilla	4054	LTBP3	OMIM:601216
HP:0000327	Hypoplasia of the maxilla	650	BMP2	ORPHA:261295
HP:0000327	Hypoplasia of the maxilla	91179	SCARF2	OMIM:600920
HP:0000327	Hypoplasia of the maxilla	6651	SON	OMIM:617140
HP:0000327	Hypoplasia of the maxilla	6651	SON	ORPHA:500150
HP:0000327	Hypoplasia of the maxilla	57589	RIC1	ORPHA:199306
HP:0000327	Hypoplasia of the maxilla	5818	NECTIN1	ORPHA:199306
HP:0000327	Hypoplasia of the maxilla	1739	DLG1	ORPHA:199306
HP:0000327	Hypoplasia of the maxilla	999	CDH1	ORPHA:199306
HP:0000327	Hypoplasia of the maxilla	5156	PDGFRA	ORPHA:199306
HP:0000327	Hypoplasia of the maxilla	3664	IRF6	ORPHA:199306
HP:0000327	Hypoplasia of the maxilla	1748	DLX4	ORPHA:199306
HP:0000327	Hypoplasia of the maxilla	4487	MSX1	ORPHA:199306
HP:0000327	Hypoplasia of the maxilla	22837	COBLL1	ORPHA:199306
HP:0000327	Hypoplasia of the maxilla	54848	ARHGEF38	ORPHA:199306
HP:0000327	Hypoplasia of the maxilla	9411	ARHGAP29	ORPHA:199306
HP:0000327	Hypoplasia of the maxilla	10847	SRCAP	ORPHA:2044
HP:0000327	Hypoplasia of the maxilla	25782	RAB3GAP2	OMIM:212720
HP:0000327	Hypoplasia of the maxilla	29072	SETD2	OMIM:620157
HP:0000327	Hypoplasia of the maxilla	51114	ZDHHC9	ORPHA:776
HP:0000327	Hypoplasia of the maxilla	65109	UPF3B	ORPHA:776
HP:0000327	Hypoplasia of the maxilla	65109	UPF3B	OMIM:300676
HP:0000327	Hypoplasia of the maxilla	9968	MED12	ORPHA:776
HP:0000327	Hypoplasia of the maxilla	9968	MED12	OMIM:309520
HP:0000327	Hypoplasia of the maxilla	4750	NEK1	OMIM:252100
HP:0000327	Hypoplasia of the maxilla	64135	IFIH1	OMIM:182250
HP:0000327	Hypoplasia of the maxilla	1896	EDA	OMIM:305100
HP:0000327	Hypoplasia of the maxilla	10484	SEC23A	ORPHA:50814
HP:0000327	Hypoplasia of the maxilla	4998	ORC1	OMIM:224690
HP:0000327	Hypoplasia of the maxilla	4998	ORC1	ORPHA:2554
HP:0000327	Hypoplasia of the maxilla	25885	POLR1A	OMIM:616462
HP:0000327	Hypoplasia of the maxilla	29920	PYCR2	ORPHA:481152
HP:0000327	Hypoplasia of the maxilla	92344	GORAB	OMIM:231070
HP:0000327	Hypoplasia of the maxilla	2077	ERF	ORPHA:207
HP:0000327	Hypoplasia of the maxilla	2317	FLNB	OMIM:108721
HP:0000327	Hypoplasia of the maxilla	3759	KCNJ2	OMIM:170390
HP:0000327	Hypoplasia of the maxilla	3759	KCNJ2	ORPHA:37553
HP:0000327	Hypoplasia of the maxilla	81620	CDT1	ORPHA:2554
HP:0000327	Hypoplasia of the maxilla	81620	CDT1	OMIM:613804
HP:0000327	Hypoplasia of the maxilla	5000	ORC4	ORPHA:2554
HP:0000327	Hypoplasia of the maxilla	23594	ORC6	ORPHA:2554
HP:0000327	Hypoplasia of the maxilla	23594	ORC6	OMIM:613803
HP:0000327	Hypoplasia of the maxilla	8318	CDC45	ORPHA:2554
HP:0000327	Hypoplasia of the maxilla	990	CDC6	ORPHA:2554
HP:0000327	Hypoplasia of the maxilla	990	CDC6	OMIM:613805
HP:0000327	Hypoplasia of the maxilla	51053	GMNN	ORPHA:2554
HP:0000327	Hypoplasia of the maxilla	1009	CDH11	OMIM:211380
HP:0000327	Hypoplasia of the maxilla	1009	CDH11	ORPHA:1299
HP:0000327	Hypoplasia of the maxilla	64093	SMOC1	ORPHA:1106
HP:0000327	Hypoplasia of the maxilla	157680	VPS13B	OMIM:216550
HP:0000327	Hypoplasia of the maxilla	157680	VPS13B	ORPHA:193
HP:0000327	Hypoplasia of the maxilla	1301	COL11A1	ORPHA:560
HP:0000327	Hypoplasia of the maxilla	633	BGN	OMIM:300106
HP:0000327	Hypoplasia of the maxilla	1280	COL2A1	ORPHA:90653
HP:0000327	Hypoplasia of the maxilla	79633	FAT4	OMIM:615546
HP:0000327	Hypoplasia of the maxilla	79633	FAT4	ORPHA:314679
HP:0000327	Hypoplasia of the maxilla	8642	DCHS1	OMIM:601390
HP:0000327	Hypoplasia of the maxilla	8642	DCHS1	ORPHA:314679
HP:0000327	Hypoplasia of the maxilla	2239	GPC4	ORPHA:2662
HP:0000327	Hypoplasia of the maxilla	9343	EFTUD2	ORPHA:79113
HP:0000327	Hypoplasia of the maxilla	2697	GJA1	OMIM:257850
HP:0000327	Hypoplasia of the maxilla	81794	ADAMTS10	OMIM:277600
HP:0000327	Hypoplasia of the maxilla	6197	RPS6KA3	ORPHA:192
HP:0000327	Hypoplasia of the maxilla	23347	SMCHD1	ORPHA:2250
HP:0000327	Hypoplasia of the maxilla	29957	SLC25A24	ORPHA:2095
HP:0000327	Hypoplasia of the maxilla	55621	TRMT1	OMIM:618302
HP:0000327	Hypoplasia of the maxilla	3590	IL11RA	OMIM:614188
HP:0000327	Hypoplasia of the maxilla	8092	ALX1	ORPHA:306542
HP:0000327	Hypoplasia of the maxilla	145173	B3GLCT	OMIM:261540
HP:0000327	Hypoplasia of the maxilla	2033	EP300	OMIM:180849
HP:0000327	Hypoplasia of the maxilla	1387	CREBBP	OMIM:180849
HP:0000327	Hypoplasia of the maxilla	117581	TWIST2	OMIM:209885
HP:0000327	Hypoplasia of the maxilla	117581	TWIST2	ORPHA:920
HP:0000327	Hypoplasia of the maxilla	1909	EDNRA	OMIM:616367
HP:0000327	Hypoplasia of the maxilla	7337	UBE3A	OMIM:105830
HP:0000327	Hypoplasia of the maxilla	6638	SNRPN	OMIM:105830
HP:0000327	Hypoplasia of the maxilla	54499	TMCO1	OMIM:213980
HP:0000327	Hypoplasia of the maxilla	415	ARSL	ORPHA:79345
HP:0000327	Hypoplasia of the maxilla	93986	FOXP2	ORPHA:251061
HP:0000327	Hypoplasia of the maxilla	2736	GLI2	OMIM:610829
HP:0000327	Hypoplasia of the maxilla	84172	POLR1B	ORPHA:861
HP:0000327	Hypoplasia of the maxilla	9533	POLR1C	ORPHA:861
HP:0000327	Hypoplasia of the maxilla	51082	POLR1D	ORPHA:861
HP:0000327	Hypoplasia of the maxilla	6949	TCOF1	ORPHA:861
HP:0000327	Hypoplasia of the maxilla	2200	FBN1	OMIM:608328
HP:0000327	Hypoplasia of the maxilla	2200	FBN1	ORPHA:2462
HP:0000327	Hypoplasia of the maxilla	5728	PTEN	OMIM:158350
HP:0000327	Hypoplasia of the maxilla	26137	ZBTB20	OMIM:259050
HP:0000327	Hypoplasia of the maxilla	4089	SMAD4	OMIM:139210
HP:0000327	Hypoplasia of the maxilla	4089	SMAD4	ORPHA:2588
HP:0000327	Hypoplasia of the maxilla	5159	PDGFRB	OMIM:601812
HP:0000327	Hypoplasia of the maxilla	51715	RAB23	OMIM:201000
HP:0000327	Hypoplasia of the maxilla	388015	RTL1	ORPHA:96334
HP:0000327	Hypoplasia of the maxilla	8788	DLK1	ORPHA:96334
HP:0000327	Hypoplasia of the maxilla	55384	MEG3	ORPHA:96334
HP:0000327	Hypoplasia of the maxilla	3930	LBR	OMIM:215140
HP:0000327	Hypoplasia of the maxilla	6497	SKI	OMIM:182212
HP:0000327	Hypoplasia of the maxilla	6497	SKI	ORPHA:2462
HP:0000327	Hypoplasia of the maxilla	1736	DKC1	OMIM:301108
HP:0000327	Hypoplasia of the maxilla	1736	DKC1	ORPHA:1775
HP:0000327	Hypoplasia of the maxilla	8242	KDM5C	OMIM:300534
HP:0000327	Hypoplasia of the maxilla	8242	KDM5C	ORPHA:85279
HP:0000327	Hypoplasia of the maxilla	2260	FGFR1	OMIM:166250
HP:0000327	Hypoplasia of the maxilla	2260	FGFR1	OMIM:101600
HP:0000327	Hypoplasia of the maxilla	4313	MMP2	OMIM:259600
HP:0000327	Hypoplasia of the maxilla	1513	CTSK	ORPHA:763
HP:0000327	Hypoplasia of the maxilla	257	ALX3	OMIM:136760
HP:0000327	Hypoplasia of the maxilla	257	ALX3	ORPHA:391474
HP:0000327	Hypoplasia of the maxilla	10262	SF3B4	ORPHA:245
HP:0000327	Hypoplasia of the maxilla	23102	TBC1D2B	ORPHA:397973
HP:0000327	Hypoplasia of the maxilla	860	RUNX2	OMIM:156510
HP:0000327	Hypoplasia of the maxilla	54101	RIPK4	OMIM:263650
HP:0000327	Hypoplasia of the maxilla	5566	PRKACA	OMIM:619142
HP:0000327	Hypoplasia of the maxilla	80169	CTC1	ORPHA:1775
HP:0000327	Hypoplasia of the maxilla	26277	TINF2	ORPHA:1775
HP:0000327	Hypoplasia of the maxilla	55651	NHP2	ORPHA:1775
HP:0000327	Hypoplasia of the maxilla	79650	USB1	ORPHA:1775
HP:0000327	Hypoplasia of the maxilla	55135	WRAP53	ORPHA:1775
HP:0000327	Hypoplasia of the maxilla	51750	RTEL1	ORPHA:1775
HP:0000327	Hypoplasia of the maxilla	4869	NPM1	ORPHA:1775
HP:0000327	Hypoplasia of the maxilla	7012	TERC	ORPHA:1775
HP:0000327	Hypoplasia of the maxilla	55505	NOP10	ORPHA:1775
HP:0000327	Hypoplasia of the maxilla	5073	PARN	ORPHA:1775
HP:0000327	Hypoplasia of the maxilla	7015	TERT	ORPHA:1775
HP:0000327	Hypoplasia of the maxilla	7298	TYMS	ORPHA:1775
HP:0000327	Hypoplasia of the maxilla	10844	TUBGCP2	OMIM:618737
HP:0000327	Hypoplasia of the maxilla	529	ATP6V1E1	OMIM:617402
HP:0000327	Hypoplasia of the maxilla	5290	PIK3CA	OMIM:615108
HP:0000327	Hypoplasia of the maxilla	207	AKT1	OMIM:615109
HP:0000327	Hypoplasia of the maxilla	9935	MAFB	OMIM:166300
HP:0000327	Hypoplasia of the maxilla	3762	KCNJ5	ORPHA:37553
HP:0000327	Hypoplasia of the maxilla	865	CBFB	OMIM:620099
HP:0000327	Hypoplasia of the maxilla	9990	SLC12A6	OMIM:218000
HP:0000242	Parietal bossing	9896	FIG4	OMIM:216340
HP:0000242	Parietal bossing	5727	PTCH1	OMIM:610828
HP:0000242	Parietal bossing	5727	PTCH1	OMIM:109400
HP:0000242	Parietal bossing	2261	FGFR3	ORPHA:15
HP:0000242	Parietal bossing	3845	KRAS	OMIM:600268
HP:0000242	Parietal bossing	860	RUNX2	OMIM:119600
HP:0000242	Parietal bossing	5781	PTPN11	OMIM:151100
HP:0000242	Parietal bossing	9526	MPDU1	OMIM:609180
HP:0000242	Parietal bossing	9526	MPDU1	ORPHA:79323
HP:0000242	Parietal bossing	11128	POLR3A	OMIM:264090
HP:0000280	Coarse facial features	2137	EXTL3	ORPHA:508533
HP:0000280	Coarse facial features	2137	EXTL3	OMIM:617425
HP:0000280	Coarse facial features	199857	ALG14	OMIM:619031
HP:0000280	Coarse facial features	8450	CUL4B	OMIM:300354
HP:0000280	Coarse facial features	9131	AIFM1	OMIM:300232
HP:0000280	Coarse facial features	27316	RBMX	OMIM:300238
HP:0000280	Coarse facial features	27316	RBMX	ORPHA:85286
HP:0000280	Coarse facial features	8367	H4C5	OMIM:619950
HP:0000280	Coarse facial features	51256	TBC1D7	OMIM:248000
HP:0000280	Coarse facial features	1183	CLCN4	OMIM:300114
HP:0000280	Coarse facial features	2132	EXT2	OMIM:616682
HP:0000280	Coarse facial features	23241	PACS2	OMIM:618067
HP:0000280	Coarse facial features	23135	KDM6B	OMIM:618505
HP:0000280	Coarse facial features	3145	HMBS	OMIM:620704
HP:0000280	Coarse facial features	23556	PIGN	ORPHA:2059
HP:0000280	Coarse facial features	23556	PIGN	OMIM:614080
HP:0000280	Coarse facial features	23556	PIGN	ORPHA:280633
HP:0000280	Coarse facial features	55823	VPS11	ORPHA:466934
HP:0000280	Coarse facial features	9231	DLG5	OMIM:620703
HP:0000280	Coarse facial features	673	BRAF	OMIM:115150
HP:0000280	Coarse facial features	673	BRAF	ORPHA:1340
HP:0000280	Coarse facial features	4897	NRCAM	OMIM:619833
HP:0000280	Coarse facial features	118429	ANTXR2	ORPHA:2176
HP:0000280	Coarse facial features	118429	ANTXR2	OMIM:228600
HP:0000280	Coarse facial features	2720	GLB1	OMIM:230600
HP:0000280	Coarse facial features	2720	GLB1	OMIM:253010
HP:0000280	Coarse facial features	2720	GLB1	OMIM:230650
HP:0000280	Coarse facial features	2720	GLB1	OMIM:230500
HP:0000280	Coarse facial features	55777	MBD5	ORPHA:228402
HP:0000280	Coarse facial features	1788	DNMT3A	ORPHA:404443
HP:0000280	Coarse facial features	4758	NEU1	OMIM:256550
HP:0000280	Coarse facial features	4758	NEU1	ORPHA:93399
HP:0000280	Coarse facial features	4758	NEU1	ORPHA:812
HP:0000280	Coarse facial features	4758	NEU1	ORPHA:93400
HP:0000280	Coarse facial features	64324	NSD1	ORPHA:821
HP:0000280	Coarse facial features	10297	APC2	ORPHA:821
HP:0000280	Coarse facial features	3190	HNRNPK	ORPHA:453504
HP:0000280	Coarse facial features	3190	HNRNPK	ORPHA:352665
HP:0000280	Coarse facial features	4125	MAN2B1	ORPHA:309282
HP:0000280	Coarse facial features	4125	MAN2B1	OMIM:248500
HP:0000280	Coarse facial features	114803	MYSM1	ORPHA:508542
HP:0000280	Coarse facial features	80232	WDR26	ORPHA:513456
HP:0000280	Coarse facial features	80232	WDR26	OMIM:617616
HP:0000280	Coarse facial features	170302	ARX	OMIM:300004
HP:0000280	Coarse facial features	170302	ARX	ORPHA:2508
HP:0000280	Coarse facial features	65993	MRPS34	OMIM:617664
HP:0000280	Coarse facial features	79639	TMEM53	OMIM:619727
HP:0000280	Coarse facial features	65082	VPS33A	OMIM:617303
HP:0000280	Coarse facial features	65082	VPS33A	ORPHA:505248
HP:0000280	Coarse facial features	526	ATP6V1B2	OMIM:616455
HP:0000280	Coarse facial features	526	ATP6V1B2	ORPHA:79500
HP:0000280	Coarse facial features	54681	P4HTM	ORPHA:436141
HP:0000280	Coarse facial features	54681	P4HTM	OMIM:618493
HP:0000280	Coarse facial features	2314	FLII	ORPHA:819
HP:0000280	Coarse facial features	23096	IQSEC2	ORPHA:819
HP:0000280	Coarse facial features	10743	RAI1	ORPHA:819
HP:0000280	Coarse facial features	10522	DEAF1	ORPHA:819
HP:0000280	Coarse facial features	23431	AP4E1	OMIM:613744
HP:0000280	Coarse facial features	23431	AP4E1	ORPHA:280763
HP:0000280	Coarse facial features	3764	KCNJ8	ORPHA:1517
HP:0000280	Coarse facial features	10060	ABCC9	ORPHA:1517
HP:0000280	Coarse facial features	10060	ABCC9	OMIM:239850
HP:0000280	Coarse facial features	79158	GNPTAB	OMIM:252500
HP:0000280	Coarse facial features	79158	GNPTAB	OMIM:252600
HP:0000280	Coarse facial features	79158	GNPTAB	ORPHA:423461
HP:0000280	Coarse facial features	79158	GNPTAB	ORPHA:576
HP:0000280	Coarse facial features	5476	CTSA	OMIM:256540
HP:0000280	Coarse facial features	5476	CTSA	ORPHA:351
HP:0000280	Coarse facial features	57231	SNX14	ORPHA:397709
HP:0000280	Coarse facial features	57231	SNX14	OMIM:616354
HP:0000280	Coarse facial features	50964	SOST	ORPHA:1513
HP:0000280	Coarse facial features	121340	SP7	ORPHA:1513
HP:0000280	Coarse facial features	6197	RPS6KA3	OMIM:303600
HP:0000280	Coarse facial features	6197	RPS6KA3	ORPHA:192
HP:0000280	Coarse facial features	84572	GNPTG	OMIM:252605
HP:0000280	Coarse facial features	56992	KIF15	ORPHA:261323
HP:0000280	Coarse facial features	84992	PIGY	ORPHA:247262
HP:0000280	Coarse facial features	84720	PIGO	ORPHA:247262
HP:0000280	Coarse facial features	93210	PGAP3	ORPHA:247262
HP:0000280	Coarse facial features	284098	PIGW	ORPHA:247262
HP:0000280	Coarse facial features	284098	PIGW	OMIM:616025
HP:0000280	Coarse facial features	27315	PGAP2	ORPHA:247262
HP:0000280	Coarse facial features	55650	PIGV	ORPHA:247262
HP:0000280	Coarse facial features	9487	PIGL	ORPHA:247262
HP:0000280	Coarse facial features	9487	PIGL	OMIM:280000
HP:0000280	Coarse facial features	3074	HEXB	ORPHA:309155
HP:0000280	Coarse facial features	3074	HEXB	OMIM:268800
HP:0000280	Coarse facial features	57492	ARID1B	OMIM:135900
HP:0000280	Coarse facial features	57492	ARID1B	ORPHA:1465
HP:0000280	Coarse facial features	54453	RIN2	OMIM:613075
HP:0000280	Coarse facial features	54453	RIN2	ORPHA:217335
HP:0000280	Coarse facial features	80204	FBXO11	OMIM:618089
HP:0000280	Coarse facial features	23522	KAT6B	OMIM:606170
HP:0000280	Coarse facial features	23522	KAT6B	ORPHA:85201
HP:0000280	Coarse facial features	4853	NOTCH2	OMIM:102500
HP:0000280	Coarse facial features	4853	NOTCH2	ORPHA:955
HP:0000280	Coarse facial features	3423	IDS	ORPHA:217085
HP:0000280	Coarse facial features	3423	IDS	OMIM:309900
HP:0000280	Coarse facial features	3423	IDS	ORPHA:217093
HP:0000280	Coarse facial features	93627	TBCK	OMIM:616900
HP:0000280	Coarse facial features	93627	TBCK	ORPHA:488632
HP:0000280	Coarse facial features	8289	ARID1A	OMIM:614607
HP:0000280	Coarse facial features	8289	ARID1A	ORPHA:1465
HP:0000280	Coarse facial features	83550	GPR101	ORPHA:963
HP:0000280	Coarse facial features	83550	GPR101	OMIM:300942
HP:0000280	Coarse facial features	9049	AIP	ORPHA:963
HP:0000280	Coarse facial features	9049	AIP	OMIM:102200
HP:0000280	Coarse facial features	9049	AIP	ORPHA:99725
HP:0000280	Coarse facial features	4323	MMP14	OMIM:277950
HP:0000280	Coarse facial features	83480	PUS3	ORPHA:488627
HP:0000280	Coarse facial features	83480	PUS3	OMIM:617051
HP:0000280	Coarse facial features	8546	AP3B1	OMIM:608233
HP:0000280	Coarse facial features	6598	SMARCB1	OMIM:614608
HP:0000280	Coarse facial features	6598	SMARCB1	ORPHA:1465
HP:0000280	Coarse facial features	6597	SMARCA4	OMIM:614609
HP:0000280	Coarse facial features	6597	SMARCA4	ORPHA:1465
HP:0000280	Coarse facial features	4763	NF1	ORPHA:363700
HP:0000280	Coarse facial features	1193	CLIC2	ORPHA:324410
HP:0000280	Coarse facial features	23461	ABCA5	ORPHA:2026
HP:0000280	Coarse facial features	79813	EHMT1	OMIM:610253
HP:0000280	Coarse facial features	200734	SPRED2	OMIM:619745
HP:0000280	Coarse facial features	3782	KCNN3	OMIM:618658
HP:0000280	Coarse facial features	3425	IDUA	OMIM:607014
HP:0000280	Coarse facial features	3425	IDUA	ORPHA:93474
HP:0000280	Coarse facial features	3425	IDUA	ORPHA:93473
HP:0000280	Coarse facial features	3425	IDUA	ORPHA:93476
HP:0000280	Coarse facial features	175	AGA	ORPHA:93
HP:0000280	Coarse facial features	175	AGA	OMIM:208400
HP:0000280	Coarse facial features	26040	SETBP1	OMIM:269150
HP:0000280	Coarse facial features	26040	SETBP1	ORPHA:798
HP:0000280	Coarse facial features	3265	HRAS	OMIM:218040
HP:0000280	Coarse facial features	3265	HRAS	ORPHA:3071
HP:0000280	Coarse facial features	9653	HS2ST1	OMIM:619194
HP:0000280	Coarse facial features	1267	CNP	OMIM:619071
HP:0000280	Coarse facial features	1280	COL2A1	OMIM:151210
HP:0000280	Coarse facial features	1280	COL2A1	ORPHA:94068
HP:0000280	Coarse facial features	1280	COL2A1	ORPHA:93346
HP:0000280	Coarse facial features	10717	AP4B1	OMIM:614066
HP:0000280	Coarse facial features	10717	AP4B1	ORPHA:280763
HP:0000280	Coarse facial features	11154	AP4S1	OMIM:614067
HP:0000280	Coarse facial features	11154	AP4S1	ORPHA:280763
HP:0000280	Coarse facial features	8905	AP1S2	ORPHA:85335
HP:0000280	Coarse facial features	8905	AP1S2	OMIM:304340
HP:0000280	Coarse facial features	3845	KRAS	OMIM:615278
HP:0000280	Coarse facial features	3845	KRAS	ORPHA:1340
HP:0000280	Coarse facial features	3845	KRAS	OMIM:609942
HP:0000280	Coarse facial features	27125	AFF4	OMIM:616368
HP:0000280	Coarse facial features	9255	AIMP1	OMIM:260600
HP:0000280	Coarse facial features	6804	STX1A	ORPHA:904
HP:0000280	Coarse facial features	7461	CLIP2	ORPHA:904
HP:0000280	Coarse facial features	84277	DNAJC30	ORPHA:904
HP:0000280	Coarse facial features	8468	FKBP6	ORPHA:904
HP:0000280	Coarse facial features	5982	RFC2	ORPHA:904
HP:0000280	Coarse facial features	2969	GTF2I	ORPHA:904
HP:0000280	Coarse facial features	3984	LIMK1	ORPHA:904
HP:0000280	Coarse facial features	9569	GTF2IRD1	ORPHA:904
HP:0000280	Coarse facial features	155382	VPS37D	ORPHA:904
HP:0000280	Coarse facial features	155368	METTL27	ORPHA:904
HP:0000280	Coarse facial features	114049	BUD23	ORPHA:904
HP:0000280	Coarse facial features	7458	EIF4H	ORPHA:904
HP:0000280	Coarse facial features	84163	GTF2IRD2	ORPHA:904
HP:0000280	Coarse facial features	26608	TBL2	ORPHA:904
HP:0000280	Coarse facial features	653361	NCF1	ORPHA:904
HP:0000280	Coarse facial features	135886	TMEM270	ORPHA:904
HP:0000280	Coarse facial features	9031	BAZ1B	ORPHA:904
HP:0000280	Coarse facial features	2006	ELN	ORPHA:904
HP:0000280	Coarse facial features	9091	PIGQ	OMIM:618548
HP:0000280	Coarse facial features	2517	FUCA1	ORPHA:349
HP:0000280	Coarse facial features	2517	FUCA1	OMIM:230000
HP:0000280	Coarse facial features	285362	SUMF1	OMIM:272200
HP:0000280	Coarse facial features	285362	SUMF1	ORPHA:585
HP:0000280	Coarse facial features	55343	SLC35C1	OMIM:266265
HP:0000280	Coarse facial features	55343	SLC35C1	ORPHA:99843
HP:0000280	Coarse facial features	2990	GUSB	ORPHA:584
HP:0000280	Coarse facial features	2990	GUSB	OMIM:253220
HP:0000280	Coarse facial features	8314	BAP1	OMIM:619762
HP:0000280	Coarse facial features	6774	STAT3	OMIM:147060
HP:0000280	Coarse facial features	5594	MAPK1	OMIM:619087
HP:0000280	Coarse facial features	6605	SMARCE1	OMIM:616938
HP:0000280	Coarse facial features	6605	SMARCE1	ORPHA:1465
HP:0000280	Coarse facial features	4221	MEN1	ORPHA:99725
HP:0000280	Coarse facial features	6925	TCF4	OMIM:610954
HP:0000280	Coarse facial features	6925	TCF4	ORPHA:2896
HP:0000280	Coarse facial features	57192	MCOLN1	ORPHA:578
HP:0000280	Coarse facial features	10430	TMEM147	OMIM:620075
HP:0000280	Coarse facial features	5727	PTCH1	ORPHA:377
HP:0000280	Coarse facial features	5727	PTCH1	OMIM:109400
HP:0000280	Coarse facial features	8643	PTCH2	ORPHA:377
HP:0000280	Coarse facial features	51684	SUFU	ORPHA:377
HP:0000280	Coarse facial features	7030	TFE3	OMIM:301066
HP:0000280	Coarse facial features	2239	GPC4	ORPHA:373
HP:0000280	Coarse facial features	2239	GPC4	OMIM:312870
HP:0000280	Coarse facial features	2719	GPC3	ORPHA:373
HP:0000280	Coarse facial features	2719	GPC3	OMIM:312870
HP:0000280	Coarse facial features	7355	SLC35A2	OMIM:300896
HP:0000280	Coarse facial features	9968	MED12	OMIM:300895
HP:0000280	Coarse facial features	9968	MED12	ORPHA:293707
HP:0000280	Coarse facial features	1028	CDKN1C	OMIM:130650
HP:0000280	Coarse facial features	3481	IGF2	OMIM:130650
HP:0000280	Coarse facial features	3784	KCNQ1	OMIM:130650
HP:0000280	Coarse facial features	10984	KCNQ1OT1	OMIM:130650
HP:0000280	Coarse facial features	5286	PIK3C2A	OMIM:618440
HP:0000280	Coarse facial features	5286	PIK3C2A	ORPHA:557003
HP:0000280	Coarse facial features	546	ATRX	OMIM:309580
HP:0000280	Coarse facial features	26047	CNTNAP2	OMIM:610042
HP:0000280	Coarse facial features	374969	SVBP	OMIM:618569
HP:0000280	Coarse facial features	51322	WAC	OMIM:616708
HP:0000280	Coarse facial features	2316	FLNA	ORPHA:1826
HP:0000280	Coarse facial features	2316	FLNA	OMIM:305620
HP:0000280	Coarse facial features	6885	MAP3K7	ORPHA:1826
HP:0000280	Coarse facial features	404672	GTF2H5	ORPHA:33364
HP:0000280	Coarse facial features	833	CARS1	ORPHA:33364
HP:0000280	Coarse facial features	2068	ERCC2	ORPHA:33364
HP:0000280	Coarse facial features	7737	RNF113A	ORPHA:33364
HP:0000280	Coarse facial features	136647	MPLKIP	ORPHA:33364
HP:0000280	Coarse facial features	6897	TARS1	ORPHA:33364
HP:0000280	Coarse facial features	16	AARS1	ORPHA:33364
HP:0000280	Coarse facial features	2071	ERCC3	ORPHA:33364
HP:0000280	Coarse facial features	2961	GTF2E2	ORPHA:33364
HP:0000280	Coarse facial features	79791	FBXO31	OMIM:615979
HP:0000280	Coarse facial features	84295	PHF6	ORPHA:127
HP:0000280	Coarse facial features	84295	PHF6	OMIM:301900
HP:0000280	Coarse facial features	4313	MMP2	OMIM:259600
HP:0000280	Coarse facial features	2697	GJA1	OMIM:218400
HP:0000280	Coarse facial features	51117	COQ4	OMIM:616276
HP:0000280	Coarse facial features	84188	FAR1	OMIM:616154
HP:0000280	Coarse facial features	4352	MPL	ORPHA:3319
HP:0000280	Coarse facial features	7066	THPO	ORPHA:3319
HP:0000280	Coarse facial features	10664	CTCF	OMIM:615502
HP:0000280	Coarse facial features	196528	ARID2	OMIM:617808
HP:0000280	Coarse facial features	196528	ARID2	ORPHA:1465
HP:0000280	Coarse facial features	5277	PIGA	OMIM:301072
HP:0000280	Coarse facial features	5277	PIGA	OMIM:300868
HP:0000280	Coarse facial features	78987	CRELD1	OMIM:620771
HP:0000280	Coarse facial features	8260	NAA10	ORPHA:276432
HP:0000280	Coarse facial features	8260	NAA10	OMIM:300855
HP:0000280	Coarse facial features	54808	DYM	ORPHA:239
HP:0000280	Coarse facial features	54808	DYM	OMIM:223800
HP:0000280	Coarse facial features	9488	PIGB	OMIM:618580
HP:0000280	Coarse facial features	6448	SGSH	OMIM:252900
HP:0000280	Coarse facial features	23013	SPEN	OMIM:619312
HP:0000280	Coarse facial features	30000	TNPO2	OMIM:619556
HP:0000280	Coarse facial features	124997	WDR81	OMIM:610185
HP:0000280	Coarse facial features	23394	ADNP	OMIM:615873
HP:0000280	Coarse facial features	54973	INTS11	OMIM:620428
HP:0000280	Coarse facial features	84320	ACBD6	OMIM:620785
HP:0000280	Coarse facial features	411	ARSB	OMIM:253200
HP:0000280	Coarse facial features	55593	OTUD5	OMIM:301056
HP:0000280	Coarse facial features	26580	BSCL2	ORPHA:363400
HP:0000280	Coarse facial features	7707	ZNF148	OMIM:617260
HP:0000280	Coarse facial features	57465	TBC1D24	OMIM:220500
HP:0000280	Coarse facial features	57465	TBC1D24	ORPHA:79500
HP:0000280	Coarse facial features	23102	TBC1D2B	OMIM:619323
HP:0000280	Coarse facial features	79868	ALG13	OMIM:300884
HP:0000280	Coarse facial features	55784	MCTP2	ORPHA:1596
HP:0000280	Coarse facial features	9179	AP4M1	OMIM:612936
HP:0000280	Coarse facial features	9179	AP4M1	ORPHA:280763
HP:0000280	Coarse facial features	7849	PAX8	ORPHA:95720
HP:0000280	Coarse facial features	7849	PAX8	ORPHA:95713
HP:0000280	Coarse facial features	7849	PAX8	ORPHA:95712
HP:0000280	Coarse facial features	7253	TSHR	ORPHA:95720
HP:0000280	Coarse facial features	7253	TSHR	ORPHA:95713
HP:0000280	Coarse facial features	5172	SLC26A4	ORPHA:95720
HP:0000280	Coarse facial features	5172	SLC26A4	ORPHA:95713
HP:0000280	Coarse facial features	79068	FTO	OMIM:612938
HP:0000280	Coarse facial features	153642	ARSK	OMIM:619698
HP:0000280	Coarse facial features	4052	LTBP1	OMIM:619451
HP:0000280	Coarse facial features	63035	BCORL1	OMIM:301029
HP:0000280	Coarse facial features	3756	KCNH1	OMIM:135500
HP:0000280	Coarse facial features	3756	KCNH1	ORPHA:420561
HP:0000280	Coarse facial features	3643	INSR	OMIM:246200
HP:0000280	Coarse facial features	3643	INSR	OMIM:262190
HP:0000280	Coarse facial features	3643	INSR	ORPHA:769
HP:0000280	Coarse facial features	5530	PPP3CA	OMIM:617711
HP:0000280	Coarse facial features	6659	SOX4	ORPHA:1465
HP:0000280	Coarse facial features	5977	DPF2	ORPHA:1465
HP:0000280	Coarse facial features	5977	DPF2	OMIM:618027
HP:0000280	Coarse facial features	6601	SMARCC2	ORPHA:1465
HP:0000280	Coarse facial features	6602	SMARCD1	ORPHA:1465
HP:0000280	Coarse facial features	6664	SOX11	ORPHA:1465
HP:0000280	Coarse facial features	7080	NKX2-1	ORPHA:95713
HP:0000280	Coarse facial features	1482	NKX2-5	ORPHA:95713
HP:0000280	Coarse facial features	1482	NKX2-5	ORPHA:95712
HP:0000280	Coarse facial features	2304	FOXE1	ORPHA:95713
HP:0000280	Coarse facial features	1108	CHD4	OMIM:617159
HP:0000280	Coarse facial features	5604	MAP2K1	ORPHA:1340
HP:0000280	Coarse facial features	5605	MAP2K2	ORPHA:1340
HP:0000280	Coarse facial features	64131	XYLT1	OMIM:615777
HP:0000280	Coarse facial features	28956	LAMTOR2	ORPHA:90023
HP:0000280	Coarse facial features	28956	LAMTOR2	OMIM:610798
HP:0000280	Coarse facial features	2717	GLA	ORPHA:324
HP:0000280	Coarse facial features	3248	HPGD	ORPHA:2796
HP:0000280	Coarse facial features	3248	HPGD	OMIM:259100
HP:0000280	Coarse facial features	6578	SLCO2A1	ORPHA:2796
HP:0000280	Coarse facial features	80311	KLHL15	OMIM:300982
HP:0000280	Coarse facial features	23258	DENND5A	OMIM:617281
HP:0000280	Coarse facial features	26175	LYSET	OMIM:619345
HP:0000280	Coarse facial features	2332	FMR1	OMIM:300624
HP:0000280	Coarse facial features	5144	PDE4D	ORPHA:439822
HP:0000280	Coarse facial features	54551	MAGEL2	OMIM:615547
HP:0000280	Coarse facial features	5281	PIGF	OMIM:619356
HP:0000280	Coarse facial features	57003	CCDC47	OMIM:618268
HP:0000280	Coarse facial features	94005	PIGS	OMIM:618143
HP:0000280	Coarse facial features	6711	SPTBN1	OMIM:619475
HP:0000280	Coarse facial features	2588	GALNS	OMIM:253000
HP:0000280	Coarse facial features	285590	SH3PXD2B	ORPHA:137834
HP:0000280	Coarse facial features	285590	SH3PXD2B	OMIM:249420
HP:0000280	Coarse facial features	374879	ZNF699	OMIM:619488
HP:0000280	Coarse facial features	57688	ZSWIM6	OMIM:617865
HP:0000280	Coarse facial features	2799	GNS	OMIM:252940
HP:0000280	Coarse facial features	9759	HDAC4	OMIM:600430
HP:0000280	Coarse facial features	4081	MAB21L1	ORPHA:495875
HP:0000280	Coarse facial features	153241	CEP120	OMIM:616300
HP:0000280	Coarse facial features	10020	GNE	OMIM:269921
HP:0000280	Coarse facial features	10020	GNE	ORPHA:3166
HP:0000280	Coarse facial features	26503	SLC17A5	OMIM:269920
HP:0000280	Coarse facial features	4668	NAGA	ORPHA:79280
HP:0000280	Coarse facial features	4668	NAGA	OMIM:609242
HP:0000280	Coarse facial features	54187	NANS	OMIM:610442
HP:0000280	Coarse facial features	138050	HGSNAT	OMIM:252930
HP:0000280	Coarse facial features	55901	THSD1	OMIM:620244
HP:0000280	Coarse facial features	71	ACTG1	ORPHA:2995
HP:0000280	Coarse facial features	60	ACTB	ORPHA:2995
HP:0000280	Coarse facial features	64802	NMNAT1	OMIM:619260
HP:0000280	Coarse facial features	129285	PPP1R21	OMIM:619383
HP:0000280	Coarse facial features	3897	L1CAM	ORPHA:2182
HP:0000280	Coarse facial features	672	BRCA1	OMIM:617883
HP:0000280	Coarse facial features	83452	RAB33B	OMIM:615222
HP:0000280	Coarse facial features	55331	ACER3	OMIM:617762
HP:0000280	Coarse facial features	7543	ZFX	OMIM:301118
HP:0000280	Coarse facial features	9373	PLAA	OMIM:617527
HP:0000280	Coarse facial features	4669	NAGLU	OMIM:252920
HP:0000280	Coarse facial features	2273	FHL1	OMIM:300280
HP:0002058	Myopathic facies	6535	SLC6A8	OMIM:300352
HP:0002058	Myopathic facies	253738	EBF3	OMIM:617330
HP:0002058	Myopathic facies	23312	DMXL2	OMIM:618663
HP:0002058	Myopathic facies	30000	TNPO2	OMIM:619556
HP:0002058	Myopathic facies	29925	GMPPB	OMIM:615351
HP:0002058	Myopathic facies	79912	PYROXD1	OMIM:617258
HP:0002058	Myopathic facies	8818	DPM2	ORPHA:329178
HP:0002058	Myopathic facies	8818	DPM2	OMIM:615042
HP:0002058	Myopathic facies	3211	HOXB1	OMIM:614744
HP:0002058	Myopathic facies	7138	TNNT1	OMIM:620389
HP:0002058	Myopathic facies	4703	NEB	OMIM:256030
HP:0002058	Myopathic facies	4703	NEB	ORPHA:171433
HP:0002058	Myopathic facies	58	ACTA1	OMIM:161800
HP:0002058	Myopathic facies	58	ACTA1	ORPHA:171433
HP:0002058	Myopathic facies	58	ACTA1	ORPHA:2020
HP:0002058	Myopathic facies	246329	STAC3	ORPHA:168572
HP:0002058	Myopathic facies	246329	STAC3	OMIM:255995
HP:0002058	Myopathic facies	5293	PIK3CD	ORPHA:221139
HP:0002058	Myopathic facies	90417	KNSTRN	ORPHA:221139
HP:0002058	Myopathic facies	10324	KLHL41	ORPHA:171433
HP:0002058	Myopathic facies	7170	TPM3	ORPHA:171433
HP:0002058	Myopathic facies	7170	TPM3	ORPHA:2020
HP:0002058	Myopathic facies	6536	SLC6A9	OMIM:617301
HP:0002058	Myopathic facies	63895	PIEZO2	OMIM:617146
HP:0002058	Myopathic facies	84340	GFM2	OMIM:618397
HP:0002058	Myopathic facies	84340	GFM2	ORPHA:565624
HP:0002058	Myopathic facies	6901	TAFAZZIN	OMIM:302060
HP:0002058	Myopathic facies	51244	CCDC174	OMIM:616816
HP:0002058	Myopathic facies	3908	LAMA2	ORPHA:258
HP:0002058	Myopathic facies	3756	KCNH1	ORPHA:420561
HP:0002058	Myopathic facies	3756	KCNH1	OMIM:611816
HP:0002058	Myopathic facies	84679	SLC9A7	OMIM:301024
HP:0002058	Myopathic facies	51651	PTRH2	OMIM:616263
HP:0002058	Myopathic facies	6843	VAMP1	OMIM:618323
HP:0002058	Myopathic facies	55154	MSTO1	OMIM:617675
HP:0002058	Myopathic facies	6261	RYR1	OMIM:255320
HP:0002058	Myopathic facies	6261	RYR1	ORPHA:98905
HP:0002058	Myopathic facies	6261	RYR1	ORPHA:324581
HP:0002058	Myopathic facies	6261	RYR1	ORPHA:424107
HP:0002058	Myopathic facies	6261	RYR1	OMIM:619542
HP:0002058	Myopathic facies	7169	TPM2	OMIM:609285
HP:0002058	Myopathic facies	7169	TPM2	ORPHA:2020
HP:0002058	Myopathic facies	2733	GLE1	OMIM:611890
HP:0002058	Myopathic facies	64919	BCL11B	OMIM:617237
HP:0002058	Myopathic facies	64919	BCL11B	OMIM:618092
HP:0002058	Myopathic facies	7317	UBA1	ORPHA:1145
HP:0002058	Myopathic facies	7317	UBA1	OMIM:301830
HP:0002058	Myopathic facies	55681	SCYL2	ORPHA:1143
HP:0002058	Myopathic facies	84570	COL25A1	ORPHA:1143
HP:0002058	Myopathic facies	57222	ERGIC1	ORPHA:1143
HP:0002058	Myopathic facies	93627	TBCK	OMIM:616900
HP:0002058	Myopathic facies	4625	MYH7	OMIM:255160
HP:0002058	Myopathic facies	29967	LRP12	OMIM:164310
HP:0002058	Myopathic facies	29967	LRP12	ORPHA:98897
HP:0002058	Myopathic facies	9570	GOSR2	OMIM:620166
HP:0002058	Myopathic facies	57731	SPTBN4	OMIM:617519
HP:0002058	Myopathic facies	4620	MYH2	OMIM:605637
HP:0002058	Myopathic facies	6567	SLC16A2	ORPHA:59
HP:0002058	Myopathic facies	10087	CERT1	OMIM:616351
HP:0002058	Myopathic facies	57190	SELENON	ORPHA:2020
HP:0002058	Myopathic facies	4633	MYL2	ORPHA:2020
HP:0002058	Myopathic facies	3679	ITGA7	ORPHA:2020
HP:0002058	Myopathic facies	9200	HACD1	ORPHA:2020
HP:0002058	Myopathic facies	51776	MAP3K20	ORPHA:2020
HP:0002058	Myopathic facies	27072	VPS41	OMIM:619389
HP:0002058	Myopathic facies	5813	PURA	ORPHA:438216
HP:0002058	Myopathic facies	5813	PURA	OMIM:616158
HP:0002058	Myopathic facies	4632	MYL1	OMIM:618414
HP:0002058	Myopathic facies	128989	TANGO2	OMIM:616878
HP:0002058	Myopathic facies	6443	SGCB	ORPHA:119
HP:0002058	Myopathic facies	113278	SLC52A3	OMIM:211530
HP:0002058	Myopathic facies	78987	CRELD1	OMIM:620771
HP:0002058	Myopathic facies	353116	RILPL1	ORPHA:98897
HP:0002058	Myopathic facies	10755	GIPC1	ORPHA:98897
HP:0002058	Myopathic facies	100996717	NOTCH2NLC	ORPHA:98897
HP:0000303	Mandibular prognathia	50964	SOST	OMIM:269500
HP:0000303	Mandibular prognathia	50964	SOST	ORPHA:3416
HP:0000303	Mandibular prognathia	50964	SOST	OMIM:122860
HP:0000303	Mandibular prognathia	5573	PRKAR1A	ORPHA:950
HP:0000303	Mandibular prognathia	5573	PRKAR1A	OMIM:101800
HP:0000303	Mandibular prognathia	5144	PDE4D	ORPHA:950
HP:0000303	Mandibular prognathia	5144	PDE4D	OMIM:614613
HP:0000303	Mandibular prognathia	5144	PDE4D	ORPHA:439822
HP:0000303	Mandibular prognathia	199857	ALG14	OMIM:619031
HP:0000303	Mandibular prognathia	8450	CUL4B	OMIM:300354
HP:0000303	Mandibular prognathia	1145	CHRNE	OMIM:608931
HP:0000303	Mandibular prognathia	2673	GFPT1	OMIM:608931
HP:0000303	Mandibular prognathia	6535	SLC6A8	OMIM:300352
HP:0000303	Mandibular prognathia	324	APC	ORPHA:261584
HP:0000303	Mandibular prognathia	8367	H4C5	OMIM:619950
HP:0000303	Mandibular prognathia	51256	TBC1D7	OMIM:248000
HP:0000303	Mandibular prognathia	340533	NEXMIF	OMIM:300912
HP:0000303	Mandibular prognathia	1183	CLCN4	OMIM:300114
HP:0000303	Mandibular prognathia	9853	RUSC2	OMIM:617773
HP:0000303	Mandibular prognathia	2200	FBN1	ORPHA:1885
HP:0000303	Mandibular prognathia	54507	ADAMTSL4	ORPHA:1885
HP:0000303	Mandibular prognathia	23135	KDM6B	OMIM:618505
HP:0000303	Mandibular prognathia	5894	RAF1	OMIM:611554
HP:0000303	Mandibular prognathia	5894	RAF1	OMIM:611553
HP:0000303	Mandibular prognathia	55627	SMPD4	OMIM:618622
HP:0000303	Mandibular prognathia	10973	ASCC3	OMIM:620700
HP:0000303	Mandibular prognathia	3703	STT3A	OMIM:619714
HP:0000303	Mandibular prognathia	1788	DNMT3A	ORPHA:404443
HP:0000303	Mandibular prognathia	1161	ERCC8	ORPHA:90321
HP:0000303	Mandibular prognathia	1161	ERCC8	ORPHA:90322
HP:0000303	Mandibular prognathia	1161	ERCC8	OMIM:216400
HP:0000303	Mandibular prognathia	2072	ERCC4	ORPHA:90321
HP:0000303	Mandibular prognathia	2074	ERCC6	ORPHA:90321
HP:0000303	Mandibular prognathia	2074	ERCC6	ORPHA:90322
HP:0000303	Mandibular prognathia	2074	ERCC6	OMIM:133540
HP:0000303	Mandibular prognathia	10084	PQBP1	ORPHA:93950
HP:0000303	Mandibular prognathia	10084	PQBP1	ORPHA:93945
HP:0000303	Mandibular prognathia	10084	PQBP1	OMIM:309500
HP:0000303	Mandibular prognathia	2067	ERCC1	ORPHA:90322
HP:0000303	Mandibular prognathia	9401	RECQL4	OMIM:268400
HP:0000303	Mandibular prognathia	6840	SVIL	OMIM:619040
HP:0000303	Mandibular prognathia	4125	MAN2B1	ORPHA:309282
HP:0000303	Mandibular prognathia	4125	MAN2B1	OMIM:248500
HP:0000303	Mandibular prognathia	4983	OPHN1	OMIM:300486
HP:0000303	Mandibular prognathia	4983	OPHN1	ORPHA:137831
HP:0000303	Mandibular prognathia	10479	SLC9A6	OMIM:300243
HP:0000303	Mandibular prognathia	374654	KIF7	OMIM:200990
HP:0000303	Mandibular prognathia	9578	CDC42BPB	OMIM:619841
HP:0000303	Mandibular prognathia	3020	H3-3A	OMIM:619720
HP:0000303	Mandibular prognathia	3021	H3-3B	OMIM:619721
HP:0000303	Mandibular prognathia	5728	PTEN	ORPHA:2969
HP:0000303	Mandibular prognathia	2314	FLII	ORPHA:819
HP:0000303	Mandibular prognathia	23096	IQSEC2	ORPHA:819
HP:0000303	Mandibular prognathia	10743	RAI1	ORPHA:819
HP:0000303	Mandibular prognathia	10743	RAI1	OMIM:182290
HP:0000303	Mandibular prognathia	10522	DEAF1	ORPHA:819
HP:0000303	Mandibular prognathia	10522	DEAF1	OMIM:615828
HP:0000303	Mandibular prognathia	29072	SETD2	OMIM:620157
HP:0000303	Mandibular prognathia	29072	SETD2	OMIM:620155
HP:0000303	Mandibular prognathia	29072	SETD2	OMIM:616831
HP:0000303	Mandibular prognathia	58	ACTA1	OMIM:620278
HP:0000303	Mandibular prognathia	4626	MYH8	ORPHA:3377
HP:0000303	Mandibular prognathia	55650	PIGV	OMIM:239300
HP:0000303	Mandibular prognathia	55650	PIGV	ORPHA:247262
HP:0000303	Mandibular prognathia	29957	SLC25A24	ORPHA:2963
HP:0000303	Mandibular prognathia	29957	SLC25A24	OMIM:612289
HP:0000303	Mandibular prognathia	284403	WDR62	OMIM:604317
HP:0000303	Mandibular prognathia	6197	RPS6KA3	OMIM:303600
HP:0000303	Mandibular prognathia	2263	FGFR2	ORPHA:87
HP:0000303	Mandibular prognathia	2263	FGFR2	ORPHA:168624
HP:0000303	Mandibular prognathia	2263	FGFR2	OMIM:101200
HP:0000303	Mandibular prognathia	2263	FGFR2	OMIM:123500
HP:0000303	Mandibular prognathia	2263	FGFR2	ORPHA:1540
HP:0000303	Mandibular prognathia	2263	FGFR2	OMIM:101600
HP:0000303	Mandibular prognathia	84992	PIGY	ORPHA:247262
HP:0000303	Mandibular prognathia	84720	PIGO	ORPHA:247262
HP:0000303	Mandibular prognathia	93210	PGAP3	ORPHA:247262
HP:0000303	Mandibular prognathia	284098	PIGW	ORPHA:247262
HP:0000303	Mandibular prognathia	27315	PGAP2	ORPHA:247262
HP:0000303	Mandibular prognathia	9487	PIGL	ORPHA:247262
HP:0000303	Mandibular prognathia	535	ATP6V0A1	OMIM:619971
HP:0000303	Mandibular prognathia	64324	NSD1	OMIM:117550
HP:0000303	Mandibular prognathia	55154	MSTO1	OMIM:617675
HP:0000303	Mandibular prognathia	8913	CACNA1G	OMIM:618087
HP:0000303	Mandibular prognathia	3899	AFF3	OMIM:619297
HP:0000303	Mandibular prognathia	7040	TGFB1	OMIM:131300
HP:0000303	Mandibular prognathia	80204	FBXO11	OMIM:618089
HP:0000303	Mandibular prognathia	56172	ANKH	OMIM:123000
HP:0000303	Mandibular prognathia	81857	MED25	ORPHA:464738
HP:0000303	Mandibular prognathia	23184	MESD	OMIM:618644
HP:0000303	Mandibular prognathia	93627	TBCK	OMIM:616900
HP:0000303	Mandibular prognathia	93627	TBCK	ORPHA:488632
HP:0000303	Mandibular prognathia	83550	GPR101	ORPHA:963
HP:0000303	Mandibular prognathia	9049	AIP	ORPHA:963
HP:0000303	Mandibular prognathia	9049	AIP	ORPHA:99725
HP:0000303	Mandibular prognathia	2697	GJA1	ORPHA:2710
HP:0000303	Mandibular prognathia	2697	GJA1	OMIM:218400
HP:0000303	Mandibular prognathia	10555	AGPAT2	OMIM:608594
HP:0000303	Mandibular prognathia	10555	AGPAT2	ORPHA:528
HP:0000303	Mandibular prognathia	9839	ZEB2	ORPHA:261552
HP:0000303	Mandibular prognathia	9839	ZEB2	ORPHA:261537
HP:0000303	Mandibular prognathia	1193	CLIC2	ORPHA:324410
HP:0000303	Mandibular prognathia	2720	GLB1	OMIM:253010
HP:0000303	Mandibular prognathia	3340	NDST1	OMIM:616116
HP:0000303	Mandibular prognathia	79813	EHMT1	OMIM:610253
HP:0000303	Mandibular prognathia	1009	CDH11	ORPHA:1299
HP:0000303	Mandibular prognathia	1009	CDH11	OMIM:211380
HP:0000303	Mandibular prognathia	2783	GNB2	OMIM:619503
HP:0000303	Mandibular prognathia	55623	THUMPD1	OMIM:619989
HP:0000303	Mandibular prognathia	79158	GNPTAB	OMIM:252600
HP:0000303	Mandibular prognathia	175	AGA	ORPHA:93
HP:0000303	Mandibular prognathia	4247	MGAT2	OMIM:212066
HP:0000303	Mandibular prognathia	3425	IDUA	OMIM:607016
HP:0000303	Mandibular prognathia	54345	SOX18	OMIM:137940
HP:0000303	Mandibular prognathia	65109	UPF3B	OMIM:300676
HP:0000303	Mandibular prognathia	1182	CLCN3	OMIM:619512
HP:0000303	Mandibular prognathia	23512	SUZ12	OMIM:618786
HP:0000303	Mandibular prognathia	388662	SLC6A17	ORPHA:457212
HP:0000303	Mandibular prognathia	388662	SLC6A17	OMIM:616269
HP:0000303	Mandibular prognathia	3590	IL11RA	OMIM:614188
HP:0000303	Mandibular prognathia	23126	POGZ	OMIM:616364
HP:0000303	Mandibular prognathia	57680	CHD8	OMIM:615032
HP:0000303	Mandibular prognathia	3572	IL6ST	OMIM:619750
HP:0000303	Mandibular prognathia	55699	IARS2	OMIM:616007
HP:0000303	Mandibular prognathia	2332	FMR1	ORPHA:908
HP:0000303	Mandibular prognathia	2332	FMR1	ORPHA:449291
HP:0000303	Mandibular prognathia	2332	FMR1	OMIM:300624
HP:0000303	Mandibular prognathia	57282	SLC4A10	OMIM:620746
HP:0000303	Mandibular prognathia	5593	PRKG2	OMIM:619636
HP:0000303	Mandibular prognathia	6134	RPL10	ORPHA:459070
HP:0000303	Mandibular prognathia	6134	RPL10	OMIM:300998
HP:0000303	Mandibular prognathia	6134	RPL10	ORPHA:435938
HP:0000303	Mandibular prognathia	7337	UBE3A	OMIM:105830
HP:0000303	Mandibular prognathia	7337	UBE3A	ORPHA:98794
HP:0000303	Mandibular prognathia	7337	UBE3A	ORPHA:98795
HP:0000303	Mandibular prognathia	7337	UBE3A	ORPHA:411511
HP:0000303	Mandibular prognathia	7337	UBE3A	ORPHA:411515
HP:0000303	Mandibular prognathia	6638	SNRPN	OMIM:105830
HP:0000303	Mandibular prognathia	6638	SNRPN	ORPHA:411515
HP:0000303	Mandibular prognathia	10907	TXNL4A	OMIM:608572
HP:0000303	Mandibular prognathia	55210	ATAD3A	ORPHA:496790
HP:0000303	Mandibular prognathia	55210	ATAD3A	OMIM:617183
HP:0000303	Mandibular prognathia	6558	SLC12A2	OMIM:619080
HP:0000303	Mandibular prognathia	4089	SMAD4	OMIM:139210
HP:0000303	Mandibular prognathia	4089	SMAD4	ORPHA:2588
HP:0000303	Mandibular prognathia	27086	FOXP1	ORPHA:391372
HP:0000303	Mandibular prognathia	56098	PCDHGC4	OMIM:619880
HP:0000303	Mandibular prognathia	4849	CNOT3	OMIM:618672
HP:0000303	Mandibular prognathia	4784	NFIX	OMIM:614753
HP:0000303	Mandibular prognathia	6901	TAFAZZIN	OMIM:302060
HP:0000303	Mandibular prognathia	4221	MEN1	ORPHA:99725
HP:0000303	Mandibular prognathia	388015	RTL1	ORPHA:96334
HP:0000303	Mandibular prognathia	8788	DLK1	ORPHA:96334
HP:0000303	Mandibular prognathia	55384	MEG3	ORPHA:96334
HP:0000303	Mandibular prognathia	55343	SLC35C1	ORPHA:99843
HP:0000303	Mandibular prognathia	3187	HNRNPH1	OMIM:620083
HP:0000303	Mandibular prognathia	5373	PMM2	ORPHA:79318
HP:0000303	Mandibular prognathia	5727	PTCH1	ORPHA:377
HP:0000303	Mandibular prognathia	5727	PTCH1	OMIM:109400
HP:0000303	Mandibular prognathia	8643	PTCH2	ORPHA:377
HP:0000303	Mandibular prognathia	51684	SUFU	ORPHA:377
HP:0000303	Mandibular prognathia	2239	GPC4	ORPHA:373
HP:0000303	Mandibular prognathia	2239	GPC4	OMIM:312870
HP:0000303	Mandibular prognathia	2719	GPC3	ORPHA:373
HP:0000303	Mandibular prognathia	2719	GPC3	OMIM:312870
HP:0000303	Mandibular prognathia	8242	KDM5C	OMIM:300534
HP:0000303	Mandibular prognathia	7355	SLC35A2	OMIM:300896
HP:0000303	Mandibular prognathia	54941	RNF125	OMIM:616260
HP:0000303	Mandibular prognathia	5077	PAX3	OMIM:193500
HP:0000303	Mandibular prognathia	5077	PAX3	OMIM:148820
HP:0000303	Mandibular prognathia	5077	PAX3	ORPHA:894
HP:0000303	Mandibular prognathia	26047	CNTNAP2	OMIM:610042
HP:0000303	Mandibular prognathia	10735	STAG2	ORPHA:521258
HP:0000303	Mandibular prognathia	2260	FGFR1	OMIM:166250
HP:0000303	Mandibular prognathia	2260	FGFR1	OMIM:101600
HP:0000303	Mandibular prognathia	7994	KAT6A	OMIM:616268
HP:0000303	Mandibular prognathia	6611	SMS	OMIM:309583
HP:0000303	Mandibular prognathia	6611	SMS	ORPHA:3063
HP:0000303	Mandibular prognathia	2146	EZH2	OMIM:277590
HP:0000303	Mandibular prognathia	5781	PTPN11	OMIM:151100
HP:0000303	Mandibular prognathia	2703	GJA8	OMIM:612474
HP:0000303	Mandibular prognathia	2702	GJA5	OMIM:612474
HP:0000303	Mandibular prognathia	22907	DHX30	OMIM:617804
HP:0000303	Mandibular prognathia	11338	U2AF2	OMIM:620535
HP:0000303	Mandibular prognathia	10664	CTCF	OMIM:615502
HP:0000303	Mandibular prognathia	8905	AP1S2	OMIM:304340
HP:0000303	Mandibular prognathia	78987	CRELD1	OMIM:620771
HP:0000303	Mandibular prognathia	8600	TNFSF11	OMIM:259710
HP:0000303	Mandibular prognathia	22827	PUF60	ORPHA:508498
HP:0000303	Mandibular prognathia	57190	SELENON	ORPHA:324604
HP:0000303	Mandibular prognathia	4625	MYH7	ORPHA:324604
HP:0000303	Mandibular prognathia	7273	TTN	ORPHA:324604
HP:0000303	Mandibular prognathia	8925	HERC1	OMIM:617011
HP:0000303	Mandibular prognathia	8925	HERC1	ORPHA:457359
HP:0000303	Mandibular prognathia	4038	LRP4	OMIM:614305
HP:0000303	Mandibular prognathia	11133	KPTN	OMIM:615637
HP:0000303	Mandibular prognathia	11133	KPTN	ORPHA:397612
HP:0000303	Mandibular prognathia	8924	HERC2	OMIM:615516
HP:0000303	Mandibular prognathia	84320	ACBD6	OMIM:620785
HP:0000303	Mandibular prognathia	546	ATRX	OMIM:301040
HP:0000303	Mandibular prognathia	4054	LTBP3	OMIM:601216
HP:0000303	Mandibular prognathia	4041	LRP5	ORPHA:3416
HP:0000303	Mandibular prognathia	4041	LRP5	ORPHA:2790
HP:0000303	Mandibular prognathia	23291	FBXW11	OMIM:618914
HP:0000303	Mandibular prognathia	83479	DDX59	OMIM:174300
HP:0000303	Mandibular prognathia	176	ACAN	OMIM:612813
HP:0000303	Mandibular prognathia	176	ACAN	OMIM:165800
HP:0000303	Mandibular prognathia	176	ACAN	ORPHA:171866
HP:0000303	Mandibular prognathia	4952	OCRL	ORPHA:534
HP:0000303	Mandibular prognathia	9179	AP4M1	OMIM:612936
HP:0000303	Mandibular prognathia	56975	FAM20C	OMIM:259775
HP:0000303	Mandibular prognathia	54808	DYM	OMIM:223800
HP:0000303	Mandibular prognathia	90161	HS6ST2	OMIM:301025
HP:0000303	Mandibular prognathia	4948	OCA2	ORPHA:98794
HP:0000303	Mandibular prognathia	55777	MBD5	OMIM:156200
HP:0000303	Mandibular prognathia	4621	MYH3	OMIM:193700
HP:0000303	Mandibular prognathia	56915	EXOSC5	OMIM:619576
HP:0000303	Mandibular prognathia	84068	SLC10A7	OMIM:618363
HP:0000303	Mandibular prognathia	3756	KCNH1	OMIM:135500
HP:0000303	Mandibular prognathia	6774	STAT3	ORPHA:2314
HP:0000303	Mandibular prognathia	7965	AIMP2	OMIM:618006
HP:0000303	Mandibular prognathia	201163	FLCN	OMIM:610883
HP:0000303	Mandibular prognathia	9820	CUL7	OMIM:273750
HP:0000303	Mandibular prognathia	92344	GORAB	OMIM:231070
HP:0000303	Mandibular prognathia	92344	GORAB	ORPHA:2078
HP:0000303	Mandibular prognathia	11145	PLAAT3	OMIM:620683
HP:0000303	Mandibular prognathia	23389	MED13L	ORPHA:369891
HP:0000303	Mandibular prognathia	7136	TNNI2	OMIM:601680
HP:0000303	Mandibular prognathia	7703	PCGF2	OMIM:618371
HP:0000303	Mandibular prognathia	10524	KAT5	OMIM:619103
HP:0000303	Mandibular prognathia	54681	P4HTM	OMIM:618493
HP:0000303	Mandibular prognathia	10297	APC2	OMIM:617169
HP:0000303	Mandibular prognathia	92949	ADAMTSL1	ORPHA:521445
HP:0000303	Mandibular prognathia	6023	RMRP	OMIM:607095
HP:0000303	Mandibular prognathia	860	RUNX2	ORPHA:1452
HP:0000303	Mandibular prognathia	54551	MAGEL2	OMIM:615547
HP:0000303	Mandibular prognathia	64864	RFX7	OMIM:620330
HP:0000303	Mandibular prognathia	9791	PTDSS1	OMIM:151050
HP:0000303	Mandibular prognathia	9791	PTDSS1	ORPHA:2658
HP:0000303	Mandibular prognathia	3643	INSR	OMIM:262190
HP:0000303	Mandibular prognathia	3643	INSR	ORPHA:769
HP:0000303	Mandibular prognathia	2290	FOXG1	ORPHA:261144
HP:0000303	Mandibular prognathia	6424	SFRP4	OMIM:265900
HP:0000303	Mandibular prognathia	2892	GRIA3	ORPHA:364028
HP:0000303	Mandibular prognathia	26580	BSCL2	OMIM:269700
HP:0000303	Mandibular prognathia	26580	BSCL2	ORPHA:528
HP:0000303	Mandibular prognathia	10847	SRCAP	OMIM:619595
HP:0000303	Mandibular prognathia	7737	RNF113A	OMIM:300953
HP:0000303	Mandibular prognathia	2588	GALNS	OMIM:253000
HP:0000303	Mandibular prognathia	117581	TWIST2	OMIM:209885
HP:0000303	Mandibular prognathia	51002	TPRKB	OMIM:617731
HP:0000303	Mandibular prognathia	285590	SH3PXD2B	ORPHA:137834
HP:0000303	Mandibular prognathia	4810	NHS	ORPHA:627
HP:0000303	Mandibular prognathia	6928	HNF1B	ORPHA:93111
HP:0000303	Mandibular prognathia	4796	TONSL	ORPHA:93357
HP:0000303	Mandibular prognathia	4796	TONSL	OMIM:271510
HP:0000303	Mandibular prognathia	63932	STEEP1	OMIM:301013
HP:0000303	Mandibular prognathia	284252	KCTD1	OMIM:181270
HP:0000303	Mandibular prognathia	2893	GRIA4	OMIM:617864
HP:0000303	Mandibular prognathia	8292	COLQ	ORPHA:98915
HP:0000303	Mandibular prognathia	3913	LAMB2	ORPHA:98915
HP:0000303	Mandibular prognathia	60	ACTB	OMIM:620475
HP:0000303	Mandibular prognathia	4094	MAF	OMIM:601088
HP:0000303	Mandibular prognathia	5831	PYCR1	ORPHA:2078
HP:0000303	Mandibular prognathia	84081	NSRP1	OMIM:620001
HP:0000303	Mandibular prognathia	5468	PPARG	ORPHA:528
HP:0000303	Mandibular prognathia	284119	CAVIN1	ORPHA:528
HP:0000303	Mandibular prognathia	2353	FOS	ORPHA:528
HP:0000303	Mandibular prognathia	857	CAV1	ORPHA:528
HP:0000303	Mandibular prognathia	1795	DOCK3	OMIM:618292
HP:0000303	Mandibular prognathia	11141	IL1RAPL1	OMIM:300143
HP:0000303	Mandibular prognathia	23102	TBC1D2B	ORPHA:397973
HP:0000303	Mandibular prognathia	3832	KIF11	OMIM:152950
HP:0000303	Mandibular prognathia	83452	RAB33B	OMIM:615222
HP:0000303	Mandibular prognathia	5567	PRKACB	OMIM:619143
HP:0000303	Mandibular prognathia	7543	ZFX	OMIM:301118
HP:0000303	Mandibular prognathia	529	ATP6V1E1	OMIM:617402
HP:0000303	Mandibular prognathia	1460	CSNK2B	OMIM:618732
HP:0000303	Mandibular prognathia	4654	MYOD1	OMIM:618975
HP:0000303	Mandibular prognathia	84168	ANTXR1	ORPHA:2067
HP:0000303	Mandibular prognathia	57194	ATP10A	ORPHA:411515
HP:0000303	Mandibular prognathia	25886	POC1A	OMIM:614813
HP:0000303	Mandibular prognathia	9898	UBAP2L	OMIM:620494
HP:0000303	Mandibular prognathia	90952	ESAM	OMIM:620371
HP:0004646	Hypoplasia of the nasal bone	124590	USH1G	OMIM:606943
HP:0004646	Hypoplasia of the nasal bone	4796	TONSL	ORPHA:93357
HP:0000325	Triangular face	8367	H4C5	OMIM:619950
HP:0000325	Triangular face	50651	SLC45A1	OMIM:617532
HP:0000325	Triangular face	83932	SPRTN	OMIM:616200
HP:0000325	Triangular face	161742	SPRED1	OMIM:611431
HP:0000325	Triangular face	9820	CUL7	ORPHA:2616
HP:0000325	Triangular face	9820	CUL7	OMIM:273750
HP:0000325	Triangular face	23363	OBSL1	ORPHA:2616
HP:0000325	Triangular face	23363	OBSL1	OMIM:612921
HP:0000325	Triangular face	83987	CCDC8	ORPHA:2616
HP:0000325	Triangular face	83987	CCDC8	OMIM:614205
HP:0000325	Triangular face	2629	GBA1	OMIM:608013
HP:0000325	Triangular face	3481	IGF2	ORPHA:231140
HP:0000325	Triangular face	3481	IGF2	ORPHA:231144
HP:0000325	Triangular face	3481	IGF2	OMIM:616489
HP:0000325	Triangular face	3481	IGF2	ORPHA:397590
HP:0000325	Triangular face	3481	IGF2	OMIM:180860
HP:0000325	Triangular face	283120	H19	ORPHA:231140
HP:0000325	Triangular face	283120	H19	ORPHA:231144
HP:0000325	Triangular face	10743	RAI1	ORPHA:477817
HP:0000325	Triangular face	10743	RAI1	ORPHA:1713
HP:0000325	Triangular face	116931	MED12L	OMIM:618872
HP:0000325	Triangular face	10847	SRCAP	ORPHA:2044
HP:0000325	Triangular face	10847	SRCAP	OMIM:136140
HP:0000325	Triangular face	10084	PQBP1	ORPHA:93947
HP:0000325	Triangular face	10084	PQBP1	OMIM:309500
HP:0000325	Triangular face	64324	NSD1	OMIM:117550
HP:0000325	Triangular face	80204	FBXO11	OMIM:618089
HP:0000325	Triangular face	54543	TOMM7	OMIM:620601
HP:0000325	Triangular face	10555	AGPAT2	OMIM:608594
HP:0000325	Triangular face	79087	ALG12	OMIM:607143
HP:0000325	Triangular face	222663	SCUBE3	OMIM:619184
HP:0000325	Triangular face	857	CAV1	OMIM:606721
HP:0000325	Triangular face	9184	BUB3	ORPHA:1052
HP:0000325	Triangular face	699	BUB1	ORPHA:1052
HP:0000325	Triangular face	9702	CEP57	ORPHA:1052
HP:0000325	Triangular face	9702	CEP57	OMIM:614114
HP:0000325	Triangular face	9319	TRIP13	ORPHA:1052
HP:0000325	Triangular face	701	BUB1B	ORPHA:1052
HP:0000325	Triangular face	22872	SEC31A	OMIM:618651
HP:0000325	Triangular face	4591	TRIM37	OMIM:253250
HP:0000325	Triangular face	649	BMP1	OMIM:614856
HP:0000325	Triangular face	4598	MVK	OMIM:610377
HP:0000325	Triangular face	4598	MVK	ORPHA:29
HP:0000325	Triangular face	200734	SPRED2	OMIM:619745
HP:0000325	Triangular face	200734	SPRED2	ORPHA:648
HP:0000325	Triangular face	26057	ANKRD17	OMIM:619504
HP:0000325	Triangular face	25942	SIN3A	OMIM:613406
HP:0000325	Triangular face	26834	RNU4-2	OMIM:620851
HP:0000325	Triangular face	2200	FBN1	OMIM:616914
HP:0000325	Triangular face	7809	BSND	ORPHA:89938
HP:0000325	Triangular face	1188	CLCNKB	ORPHA:89938
HP:0000325	Triangular face	1187	CLCNKA	ORPHA:89938
HP:0000325	Triangular face	253738	EBF3	OMIM:617330
HP:0000325	Triangular face	253738	EBF3	ORPHA:96148
HP:0000325	Triangular face	54914	FOCAD	OMIM:619991
HP:0000325	Triangular face	8558	CDK10	OMIM:617694
HP:0000325	Triangular face	5593	PRKG2	OMIM:619638
HP:0000325	Triangular face	5593	PRKG2	OMIM:619636
HP:0000325	Triangular face	285175	UNC80	OMIM:616801
HP:0000325	Triangular face	285175	UNC80	ORPHA:371364
HP:0000325	Triangular face	11128	POLR3A	OMIM:264090
HP:0000325	Triangular face	11128	POLR3A	ORPHA:3455
HP:0000325	Triangular face	23137	SMC5	OMIM:620185
HP:0000325	Triangular face	8905	AP1S2	ORPHA:85329
HP:0000325	Triangular face	7750	ZMYM2	OMIM:619522
HP:0000325	Triangular face	1028	CDKN1C	ORPHA:397590
HP:0000325	Triangular face	5324	PLAG1	ORPHA:397590
HP:0000325	Triangular face	5324	PLAG1	OMIM:618907
HP:0000325	Triangular face	8091	HMGA2	ORPHA:397590
HP:0000325	Triangular face	8091	HMGA2	OMIM:618908
HP:0000325	Triangular face	8091	HMGA2	ORPHA:94063
HP:0000325	Triangular face	7140	TNNT3	OMIM:618435
HP:0000325	Triangular face	182	JAG1	OMIM:118450
HP:0000325	Triangular face	63895	PIEZO2	ORPHA:1154
HP:0000325	Triangular face	63895	PIEZO2	OMIM:108145
HP:0000325	Triangular face	4621	MYH3	OMIM:618436
HP:0000325	Triangular face	9772	TMEM94	OMIM:618316
HP:0000325	Triangular face	57724	EPG5	OMIM:242840
HP:0000325	Triangular face	5295	PIK3R1	OMIM:269880
HP:0000325	Triangular face	5295	PIK3R1	ORPHA:3163
HP:0000325	Triangular face	9968	MED12	OMIM:300895
HP:0000325	Triangular face	9968	MED12	ORPHA:293707
HP:0000325	Triangular face	5818	NECTIN1	OMIM:225060
HP:0000325	Triangular face	7994	KAT6A	OMIM:616268
HP:0000325	Triangular face	2006	ELN	ORPHA:90348
HP:0000325	Triangular face	10516	FBLN5	ORPHA:90348
HP:0000325	Triangular face	5832	ALDH18A1	ORPHA:90348
HP:0000325	Triangular face	5832	ALDH18A1	OMIM:616603
HP:0000325	Triangular face	5194	PEX13	OMIM:614883
HP:0000325	Triangular face	5824	PEX19	OMIM:614886
HP:0000325	Triangular face	5195	PEX14	OMIM:614887
HP:0000325	Triangular face	51574	LARP7	ORPHA:319671
HP:0000325	Triangular face	51574	LARP7	OMIM:615071
HP:0000325	Triangular face	387733	IFITM5	OMIM:610967
HP:0000325	Triangular face	60681	FKBP10	OMIM:610968
HP:0000325	Triangular face	60681	FKBP10	ORPHA:2771
HP:0000325	Triangular face	6595	SMARCA2	OMIM:601358
HP:0000325	Triangular face	6595	SMARCA2	ORPHA:3051
HP:0000325	Triangular face	5631	PRPS1	OMIM:300661
HP:0000325	Triangular face	80067	DCAF17	OMIM:241080
HP:0000325	Triangular face	27077	B9D1	OMIM:617120
HP:0000325	Triangular face	5781	PTPN11	OMIM:151100
HP:0000325	Triangular face	5781	PTPN11	ORPHA:500
HP:0000325	Triangular face	5781	PTPN11	ORPHA:648
HP:0000325	Triangular face	5781	PTPN11	OMIM:163950
HP:0000325	Triangular face	29123	ANKRD11	OMIM:148050
HP:0000325	Triangular face	29123	ANKRD11	ORPHA:2332
HP:0000325	Triangular face	29123	ANKRD11	ORPHA:261250
HP:0000325	Triangular face	256297	PTF1A	ORPHA:65288
HP:0000325	Triangular face	256297	PTF1A	OMIM:609069
HP:0000325	Triangular face	2703	GJA8	OMIM:612474
HP:0000325	Triangular face	2702	GJA5	OMIM:612474
HP:0000325	Triangular face	867	CBL	OMIM:613563
HP:0000325	Triangular face	867	CBL	ORPHA:648
HP:0000325	Triangular face	5081	PAX7	OMIM:618578
HP:0000325	Triangular face	10664	CTCF	OMIM:615502
HP:0000325	Triangular face	27145	FILIP1	OMIM:620775
HP:0000325	Triangular face	5910	RAP1GDS1	OMIM:620655
HP:0000325	Triangular face	6888	TALDO1	OMIM:606003
HP:0000325	Triangular face	3720	JARID2	OMIM:620098
HP:0000325	Triangular face	7227	TRPS1	ORPHA:77258
HP:0000325	Triangular face	10075	HUWE1	OMIM:309590
HP:0000325	Triangular face	2074	ERCC6	OMIM:133540
HP:0000325	Triangular face	8243	SMC1A	OMIM:301044
HP:0000325	Triangular face	8925	HERC1	OMIM:617011
HP:0000325	Triangular face	8925	HERC1	ORPHA:457359
HP:0000325	Triangular face	6909	TBX2	OMIM:618223
HP:0000325	Triangular face	54517	PUS7	OMIM:618342
HP:0000325	Triangular face	29926	GMPPA	OMIM:615510
HP:0000325	Triangular face	54973	INTS11	OMIM:620428
HP:0000325	Triangular face	1277	COL1A1	OMIM:259420
HP:0000325	Triangular face	1278	COL1A2	OMIM:259420
HP:0000325	Triangular face	90459	ERI1	OMIM:620662
HP:0000325	Triangular face	170302	ARX	ORPHA:94083
HP:0000325	Triangular face	170302	ARX	OMIM:309510
HP:0000325	Triangular face	7707	ZNF148	OMIM:617260
HP:0000325	Triangular face	221496	LEMD2	OMIM:619322
HP:0000325	Triangular face	9871	SEC24D	OMIM:616294
HP:0000325	Triangular face	91179	SCARF2	OMIM:600920
HP:0000325	Triangular face	473	RERE	OMIM:616975
HP:0000325	Triangular face	55215	FANCI	OMIM:609053
HP:0000325	Triangular face	55784	MCTP2	ORPHA:1596
HP:0000325	Triangular face	5831	PYCR1	OMIM:614438
HP:0000325	Triangular face	5831	PYCR1	OMIM:612940
HP:0000325	Triangular face	90161	HS6ST2	OMIM:301025
HP:0000325	Triangular face	4784	NFIX	OMIM:602535
HP:0000325	Triangular face	10735	STAG2	OMIM:301022
HP:0000325	Triangular face	57551	TAOK1	OMIM:619575
HP:0000325	Triangular face	8831	SYNGAP1	ORPHA:544254
HP:0000325	Triangular face	201163	FLCN	OMIM:610883
HP:0000325	Triangular face	57211	ADGRG6	OMIM:616503
HP:0000325	Triangular face	29920	PYCR2	ORPHA:481152
HP:0000325	Triangular face	29920	PYCR2	OMIM:616420
HP:0000325	Triangular face	259232	NALCN	OMIM:615419
HP:0000325	Triangular face	259232	NALCN	ORPHA:371364
HP:0000325	Triangular face	3759	KCNJ2	OMIM:170390
HP:0000325	Triangular face	3759	KCNJ2	ORPHA:37553
HP:0000325	Triangular face	23389	MED13L	ORPHA:369891
HP:0000325	Triangular face	23389	MED13L	OMIM:616789
HP:0000325	Triangular face	7136	TNNI2	OMIM:601680
HP:0000325	Triangular face	23592	LEMD3	ORPHA:94063
HP:0000325	Triangular face	5718	PSMD12	ORPHA:529962
HP:0000325	Triangular face	2186	BPTF	ORPHA:529962
HP:0000325	Triangular face	3758	KCNJ1	OMIM:241200
HP:0000325	Triangular face	4613	MYCN	OMIM:164280
HP:0000325	Triangular face	23594	ORC6	OMIM:613803
HP:0000325	Triangular face	990	CDC6	OMIM:613805
HP:0000325	Triangular face	26580	BSCL2	OMIM:269700
HP:0000325	Triangular face	29927	SEC61A1	OMIM:617056
HP:0000325	Triangular face	29957	SLC25A24	OMIM:612289
HP:0000325	Triangular face	5352	PLOD2	ORPHA:2771
HP:0000325	Triangular face	8405	SPOP	OMIM:618829
HP:0000325	Triangular face	9935	MAFB	ORPHA:2774
HP:0000325	Triangular face	9935	MAFB	OMIM:166300
HP:0000325	Triangular face	673	BRAF	ORPHA:500
HP:0000325	Triangular face	673	BRAF	OMIM:163950
HP:0000325	Triangular face	5894	RAF1	ORPHA:500
HP:0000325	Triangular face	5894	RAF1	ORPHA:648
HP:0000325	Triangular face	2887	GRB10	ORPHA:96182
HP:0000325	Triangular face	374879	ZNF699	OMIM:619488
HP:0000325	Triangular face	60676	PAPPA2	OMIM:619489
HP:0000325	Triangular face	10651	MTX2	OMIM:619127
HP:0000325	Triangular face	23112	TNRC6B	OMIM:619243
HP:0000325	Triangular face	57570	TRMT5	OMIM:616539
HP:0000325	Triangular face	50485	SMARCAL1	OMIM:242900
HP:0000325	Triangular face	118924	FRA10AC1	OMIM:620113
HP:0000325	Triangular face	4841	NONO	ORPHA:466791
HP:0000325	Triangular face	2176	FANCC	OMIM:227645
HP:0000325	Triangular face	7518	XRCC4	OMIM:616541
HP:0000325	Triangular face	5528	PPP2R5D	ORPHA:457279
HP:0000325	Triangular face	22800	RRAS2	ORPHA:648
HP:0000325	Triangular face	8216	LZTR1	ORPHA:648
HP:0000325	Triangular face	6016	RIT1	ORPHA:648
HP:0000325	Triangular face	6237	RRAS	ORPHA:648
HP:0000325	Triangular face	22808	MRAS	ORPHA:648
HP:0000325	Triangular face	3845	KRAS	ORPHA:648
HP:0000325	Triangular face	4893	NRAS	ORPHA:648
HP:0000325	Triangular face	6654	SOS1	ORPHA:648
HP:0000325	Triangular face	6655	SOS2	ORPHA:648
HP:0000325	Triangular face	5922	RASA2	ORPHA:648
HP:0000325	Triangular face	5479	PPIB	OMIM:259440
HP:0000325	Triangular face	4853	NOTCH2	OMIM:610205
HP:0000325	Triangular face	55553	SOX6	OMIM:618971
HP:0000325	Triangular face	284361	EMC10	OMIM:619264
HP:0000325	Triangular face	523	ATP6V1A	OMIM:617403
HP:0000325	Triangular face	529	ATP6V1E1	OMIM:617402
HP:0000325	Triangular face	4654	MYOD1	OMIM:618975
HP:0000325	Triangular face	25886	POC1A	OMIM:614813
HP:0000325	Triangular face	871	SERPINH1	OMIM:613848
HP:0000325	Triangular face	3480	IGF1R	OMIM:270450
HP:0000325	Triangular face	3762	KCNJ5	ORPHA:37553
HP:0000325	Triangular face	5604	MAP2K1	OMIM:163950
HP:0000325	Triangular face	90952	ESAM	OMIM:620371
HP:0030774	Mitochondrial swelling	2271	FH	OMIM:606812
HP:0030774	Mitochondrial swelling	55863	TMEM126B	OMIM:618250
HP:0030774	Mitochondrial swelling	79784	MYH14	ORPHA:397744
HP:0030774	Mitochondrial swelling	57128	LYRM4	OMIM:615595
HP:0030773	Internuclear ophthalmoplegia	51816	ADA2	ORPHA:820
HP:0030771	Mallet finger	4883	NPR3	OMIM:619543
HP:0000618	Blindness	8322	FZD4	OMIM:133780
HP:0000618	Blindness	8322	FZD4	ORPHA:90050
HP:0000618	Blindness	8322	FZD4	ORPHA:91495
HP:0000618	Blindness	8322	FZD4	ORPHA:891
HP:0000618	Blindness	4041	LRP5	OMIM:133780
HP:0000618	Blindness	4041	LRP5	ORPHA:90050
HP:0000618	Blindness	4041	LRP5	OMIM:259770
HP:0000618	Blindness	4041	LRP5	OMIM:601813
HP:0000618	Blindness	4041	LRP5	ORPHA:891
HP:0000618	Blindness	1497	CTNS	OMIM:219800
HP:0000618	Blindness	26121	PRPF31	OMIM:600138
HP:0000618	Blindness	26121	PRPF31	ORPHA:791
HP:0000618	Blindness	4693	NDP	ORPHA:90050
HP:0000618	Blindness	4693	NDP	OMIM:310600
HP:0000618	Blindness	4693	NDP	ORPHA:91495
HP:0000618	Blindness	4693	NDP	ORPHA:891
HP:0000618	Blindness	4693	NDP	ORPHA:649
HP:0000618	Blindness	92840	REEP6	ORPHA:791
HP:0000618	Blindness	6094	ROM1	ORPHA:791
HP:0000618	Blindness	6017	RLBP1	ORPHA:791
HP:0000618	Blindness	7401	CLRN1	ORPHA:791
HP:0000618	Blindness	24	ABCA4	ORPHA:791
HP:0000618	Blindness	130557	ZNF513	ORPHA:791
HP:0000618	Blindness	582	BBS1	ORPHA:791
HP:0000618	Blindness	582	BBS1	ORPHA:110
HP:0000618	Blindness	92211	CDHR1	ORPHA:791
HP:0000618	Blindness	23568	ARL2BP	ORPHA:791
HP:0000618	Blindness	6121	RPE65	ORPHA:791
HP:0000618	Blindness	6121	RPE65	OMIM:204100
HP:0000618	Blindness	54806	AHI1	ORPHA:791
HP:0000618	Blindness	6101	RP1	ORPHA:791
HP:0000618	Blindness	3419	IDH3A	ORPHA:791
HP:0000618	Blindness	4751	NEK2	ORPHA:791
HP:0000618	Blindness	346007	EYS	ORPHA:791
HP:0000618	Blindness	8100	IFT88	ORPHA:791
HP:0000618	Blindness	23020	SNRNP200	ORPHA:791
HP:0000618	Blindness	762	CA4	ORPHA:791
HP:0000618	Blindness	138050	HGSNAT	ORPHA:791
HP:0000618	Blindness	196	AHR	ORPHA:791
HP:0000618	Blindness	3614	IMPDH1	ORPHA:791
HP:0000618	Blindness	123016	TTC8	ORPHA:791
HP:0000618	Blindness	123016	TTC8	ORPHA:110
HP:0000618	Blindness	6103	RPGR	ORPHA:791
HP:0000618	Blindness	1406	CRX	ORPHA:791
HP:0000618	Blindness	1406	CRX	OMIM:120970
HP:0000618	Blindness	5148	PDE6G	ORPHA:791
HP:0000618	Blindness	26160	IFT172	ORPHA:791
HP:0000618	Blindness	26160	IFT172	ORPHA:110
HP:0000618	Blindness	583	BBS2	ORPHA:791
HP:0000618	Blindness	583	BBS2	ORPHA:110
HP:0000618	Blindness	4117	MAK	ORPHA:791
HP:0000618	Blindness	25794	FSCN2	ORPHA:791
HP:0000618	Blindness	375298	CERKL	ORPHA:791
HP:0000618	Blindness	3420	IDH3B	ORPHA:791
HP:0000618	Blindness	57670	KIAA1549	ORPHA:791
HP:0000618	Blindness	7275	TUB	ORPHA:791
HP:0000618	Blindness	24148	PRPF6	ORPHA:791
HP:0000618	Blindness	23418	CRB1	ORPHA:791
HP:0000618	Blindness	10461	MERTK	ORPHA:791
HP:0000618	Blindness	57709	SLC7A14	ORPHA:791
HP:0000618	Blindness	768206	PRCD	ORPHA:791
HP:0000618	Blindness	7399	USH2A	ORPHA:791
HP:0000618	Blindness	23370	ARHGEF18	ORPHA:791
HP:0000618	Blindness	5949	RBP3	ORPHA:791
HP:0000618	Blindness	6010	RHO	ORPHA:791
HP:0000618	Blindness	6010	RHO	OMIM:613731
HP:0000618	Blindness	6100	RP9	ORPHA:791
HP:0000618	Blindness	10002	NR2E3	ORPHA:791
HP:0000618	Blindness	9227	LRAT	ORPHA:791
HP:0000618	Blindness	84140	FAM161A	ORPHA:791
HP:0000618	Blindness	55812	SPATA7	ORPHA:791
HP:0000618	Blindness	55624	POMGNT1	ORPHA:791
HP:0000618	Blindness	55624	POMGNT1	ORPHA:370959
HP:0000618	Blindness	79797	ZNF408	ORPHA:791
HP:0000618	Blindness	79797	ZNF408	ORPHA:891
HP:0000618	Blindness	403	ARL3	ORPHA:791
HP:0000618	Blindness	5145	PDE6A	ORPHA:791
HP:0000618	Blindness	10210	TOPORS	ORPHA:791
HP:0000618	Blindness	8842	PROM1	ORPHA:791
HP:0000618	Blindness	9128	PRPF4	ORPHA:791
HP:0000618	Blindness	145226	RDH12	ORPHA:791
HP:0000618	Blindness	50939	IMPG2	ORPHA:791
HP:0000618	Blindness	57545	CC2D2A	ORPHA:791
HP:0000618	Blindness	57545	CC2D2A	ORPHA:2318
HP:0000618	Blindness	8481	OFD1	ORPHA:791
HP:0000618	Blindness	49855	SCAPER	ORPHA:791
HP:0000618	Blindness	49855	SCAPER	ORPHA:110
HP:0000618	Blindness	9742	IFT140	ORPHA:791
HP:0000618	Blindness	9742	IFT140	OMIM:617781
HP:0000618	Blindness	2979	GUCA1B	ORPHA:791
HP:0000618	Blindness	1259	CNGA1	ORPHA:791
HP:0000618	Blindness	1258	CNGB1	ORPHA:791
HP:0000618	Blindness	60509	AGBL5	ORPHA:791
HP:0000618	Blindness	5961	PRPH2	ORPHA:791
HP:0000618	Blindness	388939	PCARE	ORPHA:791
HP:0000618	Blindness	7439	BEST1	ORPHA:791
HP:0000618	Blindness	7439	BEST1	OMIM:193220
HP:0000618	Blindness	9785	DHX38	ORPHA:791
HP:0000618	Blindness	7287	TULP1	ORPHA:791
HP:0000618	Blindness	5995	RGR	ORPHA:791
HP:0000618	Blindness	9129	PRPF3	ORPHA:791
HP:0000618	Blindness	55975	KLHL7	ORPHA:791
HP:0000618	Blindness	3617	IMPG1	ORPHA:791
HP:0000618	Blindness	94137	RP1L1	ORPHA:791
HP:0000618	Blindness	5158	PDE6B	ORPHA:791
HP:0000618	Blindness	6102	RP2	ORPHA:791
HP:0000618	Blindness	55857	KIZ	ORPHA:791
HP:0000618	Blindness	64218	SEMA4A	ORPHA:791
HP:0000618	Blindness	64218	SEMA4A	OMIM:610282
HP:0000618	Blindness	4901	NRL	ORPHA:791
HP:0000618	Blindness	4901	NRL	OMIM:613750
HP:0000618	Blindness	157657	CFAP418	ORPHA:791
HP:0000618	Blindness	157657	CFAP418	ORPHA:110
HP:0000618	Blindness	157657	CFAP418	OMIM:617406
HP:0000618	Blindness	10594	PRPF8	ORPHA:791
HP:0000618	Blindness	84100	ARL6	ORPHA:791
HP:0000618	Blindness	84100	ARL6	ORPHA:110
HP:0000618	Blindness	6295	SAG	ORPHA:791
HP:0000618	Blindness	79947	DHDDS	ORPHA:791
HP:0000618	Blindness	54539	NDUFB11	ORPHA:2609
HP:0000618	Blindness	54539	NDUFB11	ORPHA:2556
HP:0000618	Blindness	25915	NDUFAF3	ORPHA:2609
HP:0000618	Blindness	51103	NDUFAF1	ORPHA:2609
HP:0000618	Blindness	91942	NDUFAF2	ORPHA:2609
HP:0000618	Blindness	51300	TIMMDC1	ORPHA:2609
HP:0000618	Blindness	4716	NDUFB10	ORPHA:2609
HP:0000618	Blindness	4723	NDUFV1	ORPHA:2609
HP:0000618	Blindness	4723	NDUFV1	OMIM:618225
HP:0000618	Blindness	55572	FOXRED1	ORPHA:2609
HP:0000618	Blindness	284184	NDUFAF8	ORPHA:2609
HP:0000618	Blindness	55863	TMEM126B	ORPHA:2609
HP:0000618	Blindness	4535	MT-ND1	ORPHA:2609
HP:0000618	Blindness	4537	MT-ND3	ORPHA:2609
HP:0000618	Blindness	4729	NDUFV2	ORPHA:2609
HP:0000618	Blindness	4694	NDUFA1	ORPHA:2609
HP:0000618	Blindness	4720	NDUFS2	ORPHA:2609
HP:0000618	Blindness	4724	NDUFS4	ORPHA:2609
HP:0000618	Blindness	4724	NDUFS4	OMIM:252010
HP:0000618	Blindness	4726	NDUFS6	ORPHA:2609
HP:0000618	Blindness	4728	NDUFS8	ORPHA:2609
HP:0000618	Blindness	4722	NDUFS3	ORPHA:2609
HP:0000618	Blindness	79133	NDUFAF5	ORPHA:2609
HP:0000618	Blindness	126328	NDUFA11	ORPHA:2609
HP:0000618	Blindness	4709	NDUFB3	ORPHA:2609
HP:0000618	Blindness	80224	NUBPL	ORPHA:2609
HP:0000618	Blindness	29078	NDUFAF4	ORPHA:2609
HP:0000618	Blindness	374291	NDUFS7	ORPHA:2609
HP:0000618	Blindness	4700	NDUFA6	ORPHA:2609
HP:0000618	Blindness	4536	MT-ND2	ORPHA:2609
HP:0000618	Blindness	4719	NDUFS1	ORPHA:2609
HP:0000618	Blindness	4715	NDUFB9	ORPHA:2609
HP:0000618	Blindness	341640	FREM2	ORPHA:2052
HP:0000618	Blindness	80144	FRAS1	ORPHA:2052
HP:0000618	Blindness	80144	FRAS1	OMIM:219000
HP:0000618	Blindness	23426	GRIP1	ORPHA:2052
HP:0000618	Blindness	5351	PLOD1	OMIM:225400
HP:0000618	Blindness	80207	OPA3	ORPHA:67036
HP:0000618	Blindness	2778	GNAS	OMIM:174800
HP:0000618	Blindness	51569	UFM1	OMIM:617899
HP:0000618	Blindness	10312	TCIRG1	OMIM:259700
HP:0000618	Blindness	652	BMP4	ORPHA:828
HP:0000618	Blindness	652	BMP4	OMIM:607932
HP:0000618	Blindness	54820	NDE1	ORPHA:2177
HP:0000618	Blindness	5309	PITX3	OMIM:610623
HP:0000618	Blindness	220202	ATOH7	ORPHA:91495
HP:0000618	Blindness	23126	POGZ	ORPHA:468678
HP:0000618	Blindness	3073	HEXA	OMIM:272800
HP:0000618	Blindness	6720	SREBF1	OMIM:158310
HP:0000618	Blindness	4552	MTRR	OMIM:236270
HP:0000618	Blindness	2581	GALC	ORPHA:206443
HP:0000618	Blindness	2581	GALC	ORPHA:206436
HP:0000618	Blindness	2581	GALC	OMIM:245200
HP:0000618	Blindness	57465	TBC1D24	OMIM:220500
HP:0000618	Blindness	478	ATP1A3	OMIM:601338
HP:0000618	Blindness	3074	HEXB	OMIM:268800
HP:0000618	Blindness	4221	MEN1	ORPHA:2965
HP:0000618	Blindness	64072	CDH23	ORPHA:2965
HP:0000618	Blindness	64072	CDH23	ORPHA:91347
HP:0000618	Blindness	9049	AIP	ORPHA:2965
HP:0000618	Blindness	9915	ARNT2	OMIM:615926
HP:0000618	Blindness	443	ASPA	ORPHA:314911
HP:0000618	Blindness	443	ASPA	OMIM:271900
HP:0000618	Blindness	2720	GLB1	ORPHA:79255
HP:0000618	Blindness	29954	POMT2	OMIM:236670
HP:0000618	Blindness	29954	POMT2	ORPHA:370959
HP:0000618	Blindness	79147	FKRP	OMIM:236670
HP:0000618	Blindness	79147	FKRP	ORPHA:370959
HP:0000618	Blindness	2218	FKTN	OMIM:236670
HP:0000618	Blindness	10585	POMT1	OMIM:236670
HP:0000618	Blindness	10585	POMT1	ORPHA:370959
HP:0000618	Blindness	9215	LARGE1	OMIM:236670
HP:0000618	Blindness	4942	OAT	ORPHA:414
HP:0000618	Blindness	4942	OAT	OMIM:258870
HP:0000618	Blindness	4509	MT-ATP8	ORPHA:254913
HP:0000618	Blindness	514	ATP5F1E	ORPHA:254913
HP:0000618	Blindness	513	ATP5F1D	ORPHA:254913
HP:0000618	Blindness	498	ATP5F1A	ORPHA:254913
HP:0000618	Blindness	4508	MT-ATP6	ORPHA:254913
HP:0000618	Blindness	4508	MT-ATP6	OMIM:551500
HP:0000618	Blindness	4508	MT-ATP6	ORPHA:644
HP:0000618	Blindness	84833	ATP5MK	ORPHA:254913
HP:0000618	Blindness	91647	ATPAF2	ORPHA:254913
HP:0000618	Blindness	215	ABCD1	ORPHA:139396
HP:0000618	Blindness	215	ABCD1	OMIM:300100
HP:0000618	Blindness	22897	CEP164	OMIM:614845
HP:0000618	Blindness	5631	PRPS1	ORPHA:1187
HP:0000618	Blindness	5190	PEX6	ORPHA:95433
HP:0000618	Blindness	9361	LONP1	ORPHA:79243
HP:0000618	Blindness	5160	PDHA1	ORPHA:79243
HP:0000618	Blindness	8398	PLA2G6	ORPHA:35069
HP:0000618	Blindness	7840	ALMS1	OMIM:203800
HP:0000618	Blindness	7840	ALMS1	ORPHA:64
HP:0000618	Blindness	546	ATRX	ORPHA:847
HP:0000618	Blindness	5428	POLG	ORPHA:726
HP:0000618	Blindness	3913	LAMB2	OMIM:609049
HP:0000618	Blindness	79583	TMEM231	ORPHA:2318
HP:0000618	Blindness	51524	TMEM138	ORPHA:2318
HP:0000618	Blindness	23090	ZNF423	ORPHA:2318
HP:0000618	Blindness	80184	CEP290	ORPHA:2318
HP:0000618	Blindness	80184	CEP290	ORPHA:110
HP:0000618	Blindness	51259	TMEM216	ORPHA:2318
HP:0000618	Blindness	65062	TMEM237	ORPHA:2318
HP:0000618	Blindness	23746	AIPL1	OMIM:604393
HP:0000618	Blindness	7389	UROD	ORPHA:95159
HP:0000618	Blindness	1349	COX7B	ORPHA:2556
HP:0000618	Blindness	3052	HCCS	ORPHA:2556
HP:0000618	Blindness	60	ACTB	ORPHA:79107
HP:0000618	Blindness	1001	CDH3	OMIM:601553
HP:0000618	Blindness	1001	CDH3	ORPHA:1573
HP:0000618	Blindness	4547	MTTP	ORPHA:14
HP:0000618	Blindness	27316	RBMX	OMIM:309555
HP:0000618	Blindness	1201	CLN3	OMIM:204200
HP:0000618	Blindness	114548	NLRP3	ORPHA:1451
HP:0000618	Blindness	5230	PGK1	ORPHA:713
HP:0000618	Blindness	1974	EIF4A2	OMIM:620455
HP:0000618	Blindness	26834	RNU4-2	OMIM:620851
HP:0000618	Blindness	4548	MTR	OMIM:250940
HP:0000618	Blindness	4763	NF1	ORPHA:97685
HP:0000618	Blindness	56244	BTNL2	ORPHA:797
HP:0000618	Blindness	3123	HLA-DRB1	ORPHA:797
HP:0000618	Blindness	28982	FLVCR1	OMIM:609033
HP:0000618	Blindness	81794	ADAMTS10	OMIM:277600
HP:0000618	Blindness	3028	HSD17B10	ORPHA:391428
HP:0000618	Blindness	92482	BBIP1	ORPHA:110
HP:0000618	Blindness	11020	IFT27	ORPHA:110
HP:0000618	Blindness	4867	NPHP1	ORPHA:110
HP:0000618	Blindness	51057	WDPCP	ORPHA:110
HP:0000618	Blindness	132320	SCLT1	ORPHA:110
HP:0000618	Blindness	27241	BBS9	ORPHA:110
HP:0000618	Blindness	84984	CEP19	ORPHA:110
HP:0000618	Blindness	22954	TRIM32	ORPHA:110
HP:0000618	Blindness	54903	MKS1	ORPHA:110
HP:0000618	Blindness	79738	BBS10	ORPHA:110
HP:0000618	Blindness	585	BBS4	ORPHA:110
HP:0000618	Blindness	8195	MKKS	ORPHA:110
HP:0000618	Blindness	54585	LZTFL1	ORPHA:110
HP:0000618	Blindness	55212	BBS7	ORPHA:110
HP:0000618	Blindness	166379	BBS12	ORPHA:110
HP:0000618	Blindness	10806	SDCCAG8	ORPHA:110
HP:0000618	Blindness	129880	BBS5	ORPHA:110
HP:0000618	Blindness	80173	IFT74	ORPHA:110
HP:0000618	Blindness	23347	SMCHD1	ORPHA:2250
HP:0000618	Blindness	54880	BCOR	OMIM:309800
HP:0000618	Blindness	8260	NAA10	OMIM:309800
HP:0000618	Blindness	285440	CYP4V2	ORPHA:41751
HP:0000618	Blindness	3257	HPS1	OMIM:203300
HP:0000618	Blindness	8314	BAP1	ORPHA:2495
HP:0000618	Blindness	4771	NF2	ORPHA:2495
HP:0000618	Blindness	4771	NF2	ORPHA:637
HP:0000618	Blindness	6598	SMARCB1	ORPHA:2495
HP:0000618	Blindness	5155	PDGFB	ORPHA:2495
HP:0000618	Blindness	84231	TRAF7	ORPHA:2495
HP:0000618	Blindness	6608	SMO	ORPHA:2495
HP:0000618	Blindness	207	AKT1	ORPHA:2495
HP:0000618	Blindness	5290	PIK3CA	ORPHA:2495
HP:0000618	Blindness	7015	TERT	ORPHA:2495
HP:0000618	Blindness	51684	SUFU	ORPHA:2495
HP:0000618	Blindness	6605	SMARCE1	ORPHA:2495
HP:0000618	Blindness	1280	COL2A1	OMIM:108300
HP:0000618	Blindness	29925	GMPPB	ORPHA:370959
HP:0000618	Blindness	84197	POMK	ORPHA:370959
HP:0000618	Blindness	2200	FBN1	OMIM:608328
HP:0000618	Blindness	726	CAPN5	OMIM:193235
HP:0000618	Blindness	7078	TIMP3	OMIM:136900
HP:0000618	Blindness	7078	TIMP3	ORPHA:59181
HP:0000618	Blindness	11041	B4GAT1	OMIM:615287
HP:0000618	Blindness	2232	FDXR	ORPHA:543470
HP:0000618	Blindness	3832	KIF11	ORPHA:2526
HP:0000618	Blindness	5627	PROS1	OMIM:614514
HP:0000618	Blindness	5340	PLG	OMIM:217090
HP:0000618	Blindness	256471	MFSD8	OMIM:610951
HP:0000618	Blindness	2811	GP1BA	ORPHA:853
HP:0000618	Blindness	2812	GP1BB	ORPHA:853
HP:0000618	Blindness	3674	ITGA2B	ORPHA:853
HP:0000618	Blindness	3673	ITGA2	ORPHA:853
HP:0000618	Blindness	135228	CD109	ORPHA:853
HP:0000618	Blindness	3690	ITGB3	ORPHA:853
HP:0000618	Blindness	5296	PIK3R2	OMIM:603387
HP:0000618	Blindness	1499	CTNNB1	ORPHA:891
HP:0000618	Blindness	23554	TSPAN12	ORPHA:891
HP:0000618	Blindness	10084	PQBP1	OMIM:309500
HP:0000618	Blindness	80025	PANK2	ORPHA:216873
HP:0000618	Blindness	80025	PANK2	ORPHA:216866
HP:0000618	Blindness	440	ASNS	OMIM:615574
HP:0000618	Blindness	5538	PPT1	OMIM:256730
HP:0000618	Blindness	6389	SDHA	ORPHA:3208
HP:0000618	Blindness	6390	SDHB	ORPHA:3208
HP:0000618	Blindness	6392	SDHD	ORPHA:3208
HP:0000618	Blindness	644096	SDHAF1	ORPHA:3208
HP:0000618	Blindness	9928	KIF14	OMIM:617914
HP:0000618	Blindness	91147	TMEM67	OMIM:610688
HP:0000618	Blindness	5660	PSAP	ORPHA:206436
HP:0000618	Blindness	2072	ERCC4	OMIM:610965
HP:0000618	Blindness	6314	ATXN7	ORPHA:94147
HP:0000618	Blindness	2776	GNAQ	ORPHA:3205
HP:0000618	Blindness	1967	EIF2B1	OMIM:603896
HP:0000618	Blindness	1186	CLCN7	ORPHA:53
HP:0000618	Blindness	148789	B3GALNT2	OMIM:615181
HP:0000618	Blindness	1387	CREBBP	OMIM:618332
HP:0000618	Blindness	57647	DHX37	OMIM:618731
HP:0000618	Blindness	80169	CTC1	OMIM:612199
HP:0000618	Blindness	3000	GUCY2D	OMIM:204000
HP:0000618	Blindness	2706	GJB2	OMIM:148210
HP:0000618	Blindness	6323	SCN1A	OMIM:609634
HP:0000618	Blindness	7390	UROS	ORPHA:79277
HP:0000618	Blindness	2623	GATA1	ORPHA:79277
HP:0000618	Blindness	4976	OPA1	OMIM:210000
HP:0000618	Blindness	2760	GM2A	OMIM:272750
HP:0000618	Blindness	8600	TNFSF11	OMIM:259710
HP:0000618	Blindness	149233	IL23R	ORPHA:117
HP:0000618	Blindness	6775	STAT4	ORPHA:117
HP:0000618	Blindness	3586	IL10	ORPHA:117
HP:0000618	Blindness	4210	MEFV	ORPHA:117
HP:0000618	Blindness	1230	CCR1	ORPHA:117
HP:0000618	Blindness	355	FAS	ORPHA:117
HP:0000618	Blindness	3592	IL12A	ORPHA:117
HP:0000618	Blindness	101928376	IL12A-AS1	ORPHA:117
HP:0000618	Blindness	3106	HLA-B	ORPHA:117
HP:0000618	Blindness	7099	TLR4	ORPHA:117
HP:0000618	Blindness	3459	IFNGR1	ORPHA:117
HP:0000618	Blindness	720	C4A	ORPHA:117
HP:0000618	Blindness	337867	UBAC2	ORPHA:117
HP:0000618	Blindness	51752	ERAP1	ORPHA:117
HP:0000618	Blindness	8302	KLRC4	ORPHA:117
HP:0000618	Blindness	471	ATIC	ORPHA:250977
HP:0000618	Blindness	471	ATIC	OMIM:608688
HP:0000618	Blindness	1757	SARDH	ORPHA:3129
HP:0000618	Blindness	286053	NSMCE2	ORPHA:436182
HP:0000618	Blindness	7518	XRCC4	ORPHA:436182
HP:0000618	Blindness	343035	RD3	OMIM:610612
HP:0025480	Lipomyelomeningocele	3190	HNRNPK	OMIM:616580
HP:0025480	Lipomyelomeningocele	6608	SMO	OMIM:601707
HP:0025481	Cervical hemivertebrae	22827	PUF60	ORPHA:508498
HP:0025481	Cervical hemivertebrae	8567	MADD	OMIM:619004
HP:0025482	Positive perchlorate discharge test	405753	DUOXA2	ORPHA:95716
HP:0025482	Positive perchlorate discharge test	6528	SLC5A5	ORPHA:95716
HP:0025482	Positive perchlorate discharge test	7038	TG	ORPHA:95716
HP:0025482	Positive perchlorate discharge test	7173	TPO	ORPHA:95716
HP:0025482	Positive perchlorate discharge test	389434	IYD	ORPHA:95716
HP:0025482	Positive perchlorate discharge test	50506	DUOX2	ORPHA:95716
HP:0025483	Abnormal circulating thyroglobulin concentration	5626	PROP1	ORPHA:226307
HP:0025483	Abnormal circulating thyroglobulin concentration	89884	LHX4	ORPHA:226307
HP:0025483	Abnormal circulating thyroglobulin concentration	8022	LHX3	ORPHA:226307
HP:0025483	Abnormal circulating thyroglobulin concentration	5449	POU1F1	ORPHA:226307
HP:0025483	Abnormal circulating thyroglobulin concentration	8820	HESX1	ORPHA:226307
HP:0025483	Abnormal circulating thyroglobulin concentration	405753	DUOXA2	ORPHA:95716
HP:0025483	Abnormal circulating thyroglobulin concentration	6528	SLC5A5	ORPHA:95716
HP:0025483	Abnormal circulating thyroglobulin concentration	7038	TG	ORPHA:95716
HP:0025483	Abnormal circulating thyroglobulin concentration	7173	TPO	ORPHA:95716
HP:0025483	Abnormal circulating thyroglobulin concentration	389434	IYD	ORPHA:95716
HP:0025483	Abnormal circulating thyroglobulin concentration	50506	DUOX2	ORPHA:95716
HP:0025483	Abnormal circulating thyroglobulin concentration	7080	NKX2-1	ORPHA:95713
HP:0025483	Abnormal circulating thyroglobulin concentration	7849	PAX8	ORPHA:95713
HP:0025483	Abnormal circulating thyroglobulin concentration	1482	NKX2-5	ORPHA:95713
HP:0025483	Abnormal circulating thyroglobulin concentration	2304	FOXE1	ORPHA:95713
HP:0025483	Abnormal circulating thyroglobulin concentration	7253	TSHR	ORPHA:95713
HP:0025483	Abnormal circulating thyroglobulin concentration	5172	SLC26A4	ORPHA:95713
HP:0025483	Abnormal circulating thyroglobulin concentration	7201	TRHR	ORPHA:99832
HP:0025483	Abnormal circulating thyroglobulin concentration	7252	TSHB	ORPHA:90674
HP:0025483	Abnormal circulating thyroglobulin concentration	7068	THRB	ORPHA:566243
HP:0025483	Abnormal circulating thyroglobulin concentration	7068	THRB	OMIM:188570
HP:0025483	Abnormal circulating thyroglobulin concentration	169792	GLIS3	OMIM:610199
HP:0025483	Abnormal circulating thyroglobulin concentration	7355	SLC35A2	ORPHA:356961
HP:0025483	Abnormal circulating thyroglobulin concentration	3766	KCNJ10	OMIM:274600
HP:0025483	Abnormal circulating thyroglobulin concentration	2299	FOXI1	OMIM:274600
HP:0025484	Increased circulating thyroglobulin concentration	7253	TSHR	OMIM:609152
HP:0025484	Increased circulating thyroglobulin concentration	7253	TSHR	ORPHA:90673
HP:0025484	Increased circulating thyroglobulin concentration	7068	THRB	ORPHA:566243
HP:0025484	Increased circulating thyroglobulin concentration	7068	THRB	OMIM:188570
HP:0025484	Increased circulating thyroglobulin concentration	50506	DUOX2	ORPHA:226316
HP:0025484	Increased circulating thyroglobulin concentration	169792	GLIS3	OMIM:610199
HP:0025484	Increased circulating thyroglobulin concentration	7355	SLC35A2	ORPHA:356961
HP:0025484	Increased circulating thyroglobulin concentration	7849	PAX8	OMIM:218700
HP:0025484	Increased circulating thyroglobulin concentration	3766	KCNJ10	OMIM:274600
HP:0025484	Increased circulating thyroglobulin concentration	2299	FOXI1	OMIM:274600
HP:0025484	Increased circulating thyroglobulin concentration	5172	SLC26A4	OMIM:274600
HP:0025486	Fused labia majora	367	AR	ORPHA:90797
HP:0025486	Fused labia majora	2516	NR5A1	OMIM:617480
HP:0025486	Fused labia majora	5447	POR	OMIM:201750
HP:0025486	Fused labia majora	5447	POR	ORPHA:95699
HP:0025487	Abnormal bladder morphology	1277	COL1A1	ORPHA:287
HP:0025487	Abnormal bladder morphology	1289	COL5A1	ORPHA:287
HP:0025487	Abnormal bladder morphology	1290	COL5A2	ORPHA:287
HP:0025487	Abnormal bladder morphology	538	ATP7A	ORPHA:565
HP:0025487	Abnormal bladder morphology	538	ATP7A	ORPHA:198
HP:0025487	Abnormal bladder morphology	538	ATP7A	OMIM:304150
HP:0025487	Abnormal bladder morphology	1281	COL3A1	ORPHA:286
HP:0025487	Abnormal bladder morphology	5351	PLOD1	OMIM:225400
HP:0025487	Abnormal bladder morphology	1278	COL1A2	OMIM:617821
HP:0025487	Abnormal bladder morphology	2006	ELN	ORPHA:90348
HP:0025487	Abnormal bladder morphology	2006	ELN	ORPHA:904
HP:0025487	Abnormal bladder morphology	2006	ELN	OMIM:194050
HP:0025487	Abnormal bladder morphology	10516	FBLN5	ORPHA:90348
HP:0025487	Abnormal bladder morphology	10516	FBLN5	OMIM:219100
HP:0025487	Abnormal bladder morphology	5832	ALDH18A1	ORPHA:90348
HP:0025487	Abnormal bladder morphology	57167	SALL4	ORPHA:959
HP:0025487	Abnormal bladder morphology	6804	STX1A	ORPHA:904
HP:0025487	Abnormal bladder morphology	7461	CLIP2	ORPHA:904
HP:0025487	Abnormal bladder morphology	84277	DNAJC30	ORPHA:904
HP:0025487	Abnormal bladder morphology	8468	FKBP6	ORPHA:904
HP:0025487	Abnormal bladder morphology	5982	RFC2	ORPHA:904
HP:0025487	Abnormal bladder morphology	2969	GTF2I	ORPHA:904
HP:0025487	Abnormal bladder morphology	3984	LIMK1	ORPHA:904
HP:0025487	Abnormal bladder morphology	9569	GTF2IRD1	ORPHA:904
HP:0025487	Abnormal bladder morphology	155382	VPS37D	ORPHA:904
HP:0025487	Abnormal bladder morphology	155368	METTL27	ORPHA:904
HP:0025487	Abnormal bladder morphology	114049	BUD23	ORPHA:904
HP:0025487	Abnormal bladder morphology	7458	EIF4H	ORPHA:904
HP:0025487	Abnormal bladder morphology	84163	GTF2IRD2	ORPHA:904
HP:0025487	Abnormal bladder morphology	26608	TBL2	ORPHA:904
HP:0025487	Abnormal bladder morphology	653361	NCF1	ORPHA:904
HP:0025487	Abnormal bladder morphology	135886	TMEM270	ORPHA:904
HP:0025487	Abnormal bladder morphology	9031	BAZ1B	ORPHA:904
HP:0025487	Abnormal bladder morphology	55033	FKBP14	OMIM:614557
HP:0025487	Abnormal bladder morphology	8626	TP63	OMIM:604292
HP:0025487	Abnormal bladder morphology	51085	MLXIPL	OMIM:194050
HP:0025487	Abnormal bladder morphology	2202	EFEMP1	OMIM:620780
HP:0025487	Abnormal bladder morphology	4629	MYH11	OMIM:619350
HP:0025487	Abnormal bladder morphology	4629	MYH11	OMIM:619351
HP:0025487	Abnormal bladder morphology	4629	MYH11	ORPHA:2241
HP:0025487	Abnormal bladder morphology	72	ACTG2	OMIM:155310
HP:0025487	Abnormal bladder morphology	72	ACTG2	OMIM:619431
HP:0025487	Abnormal bladder morphology	72	ACTG2	ORPHA:2604
HP:0025487	Abnormal bladder morphology	72	ACTG2	ORPHA:2241
HP:0025487	Abnormal bladder morphology	554	AVPR2	OMIM:304800
HP:0025487	Abnormal bladder morphology	10398	MYL9	OMIM:619365
HP:0025487	Abnormal bladder morphology	359	AQP2	OMIM:125800
HP:0025487	Abnormal bladder morphology	25802	LMOD1	ORPHA:2241
HP:0025487	Abnormal bladder morphology	4638	MYLK	ORPHA:2241
HP:0025487	Abnormal bladder morphology	7080	NKX2-1	ORPHA:209905
HP:0025487	Abnormal bladder morphology	8195	MKKS	OMIM:236700
HP:0025487	Abnormal bladder morphology	5447	POR	OMIM:201750
HP:0025487	Abnormal bladder morphology	7355	SLC35A2	OMIM:300896
HP:0025487	Abnormal bladder morphology	9968	MED12	OMIM:301068
HP:0025487	Abnormal bladder morphology	3845	KRAS	OMIM:600268
HP:0025487	Abnormal bladder morphology	51733	UPB1	OMIM:613161
HP:0025487	Abnormal bladder morphology	1009	CDH11	ORPHA:1299
HP:0025487	Abnormal bladder morphology	5053	PAH	ORPHA:2209
HP:0025487	Abnormal bladder morphology	3670	ISL1	ORPHA:93930
HP:0025487	Abnormal bladder morphology	51360	MBTPS2	ORPHA:85284
HP:0025487	Abnormal bladder morphology	23426	GRIP1	OMIM:617667
HP:0025487	Abnormal bladder morphology	92002	CCNQ	OMIM:300707
HP:0025487	Abnormal bladder morphology	79796	ALG9	ORPHA:79328
HP:0025487	Abnormal bladder morphology	54361	WNT4	ORPHA:139466
HP:0025487	Abnormal bladder morphology	54361	WNT4	OMIM:611812
HP:0025487	Abnormal bladder morphology	6091	ROBO1	OMIM:620305
HP:0025487	Abnormal bladder morphology	54903	MKS1	OMIM:249000
HP:0025487	Abnormal bladder morphology	23556	PIGN	ORPHA:280633
HP:0025487	Abnormal bladder morphology	3909	LAMA3	ORPHA:79404
HP:0025487	Abnormal bladder morphology	3918	LAMC2	ORPHA:79404
HP:0025487	Abnormal bladder morphology	3914	LAMB3	ORPHA:79404
HP:0025487	Abnormal bladder morphology	341640	FREM2	OMIM:617666
HP:0025487	Abnormal bladder morphology	5339	PLEC	ORPHA:158684
HP:0025487	Abnormal bladder morphology	57545	CC2D2A	OMIM:612284
HP:0025487	Abnormal bladder morphology	745	MYRF	OMIM:618280
HP:0025487	Abnormal bladder morphology	4714	NDUFB8	OMIM:618252
HP:0025487	Abnormal bladder morphology	2294	FOXF1	OMIM:265380
HP:0025487	Abnormal bladder morphology	93649	MYOCD	OMIM:618719
HP:0025487	Abnormal bladder morphology	5880	RAC2	OMIM:608203
HP:0025487	Abnormal bladder morphology	8425	LTBP4	OMIM:613177
HP:0025487	Abnormal bladder morphology	4052	LTBP1	ORPHA:90349
HP:0025487	Abnormal bladder morphology	30008	EFEMP2	ORPHA:90349
HP:0025487	Abnormal bladder morphology	4088	SMAD3	ORPHA:284984
HP:0025487	Abnormal bladder morphology	6794	STK11	OMIM:175200
HP:0025487	Abnormal bladder morphology	9860	LRIG2	OMIM:615112
HP:0025487	Abnormal bladder morphology	92579	G6PC3	OMIM:612541
HP:0025487	Abnormal bladder morphology	3655	ITGA6	ORPHA:79403
HP:0025487	Abnormal bladder morphology	3691	ITGB4	ORPHA:79403
HP:0025488	Detrusor sphincter dyssynergia	7840	ALMS1	ORPHA:64
HP:0025488	Detrusor sphincter dyssynergia	10667	FARS2	ORPHA:466722
HP:0000311	Round face	1280	COL2A1	OMIM:132450
HP:0000311	Round face	1280	COL2A1	OMIM:156550
HP:0000311	Round face	1280	COL2A1	ORPHA:485
HP:0000311	Round face	2245	FGD1	OMIM:305400
HP:0000311	Round face	2245	FGD1	ORPHA:915
HP:0000311	Round face	3376	IARS1	OMIM:617093
HP:0000311	Round face	3376	IARS1	ORPHA:541423
HP:0000311	Round face	8243	SMC1A	OMIM:301044
HP:0000311	Round face	1291	COL6A1	OMIM:254090
HP:0000311	Round face	104	ADARB1	OMIM:618862
HP:0000311	Round face	340533	NEXMIF	OMIM:300912
HP:0000311	Round face	9158	FIBP	ORPHA:500095
HP:0000311	Round face	9158	FIBP	OMIM:617107
HP:0000311	Round face	22856	CHSY1	ORPHA:363417
HP:0000311	Round face	23135	KDM6B	OMIM:618505
HP:0000311	Round face	100151683	RNU4ATAC	OMIM:210710
HP:0000311	Round face	29123	ANKRD11	ORPHA:2332
HP:0000311	Round face	29123	ANKRD11	OMIM:148050
HP:0000311	Round face	9759	HDAC4	ORPHA:1001
HP:0000311	Round face	9759	HDAC4	OMIM:600430
HP:0000311	Round face	775	CACNA1C	OMIM:620029
HP:0000311	Round face	775	CACNA1C	OMIM:601005
HP:0000311	Round face	2778	GNAS	OMIM:219080
HP:0000311	Round face	2778	GNAS	ORPHA:94089
HP:0000311	Round face	2778	GNAS	OMIM:612463
HP:0000311	Round face	2778	GNAS	OMIM:612462
HP:0000311	Round face	2778	GNAS	ORPHA:79443
HP:0000311	Round face	2778	GNAS	ORPHA:79444
HP:0000311	Round face	2778	GNAS	ORPHA:79445
HP:0000311	Round face	2778	GNAS	OMIM:103580
HP:0000311	Round face	5332	PLCB4	OMIM:614669
HP:0000311	Round face	1788	DNMT3A	OMIM:615879
HP:0000311	Round face	1788	DNMT3A	ORPHA:404443
HP:0000311	Round face	145173	B3GLCT	ORPHA:709
HP:0000311	Round face	145173	B3GLCT	OMIM:261540
HP:0000311	Round face	8675	STX16	ORPHA:94089
HP:0000311	Round face	91147	TMEM67	OMIM:216360
HP:0000311	Round face	27125	AFF4	ORPHA:444077
HP:0000311	Round face	27125	AFF4	OMIM:616368
HP:0000311	Round face	5575	PRKAR1B	OMIM:619680
HP:0000311	Round face	1062	CENPE	OMIM:616051
HP:0000311	Round face	51741	WWOX	OMIM:616211
HP:0000311	Round face	23030	KDM4B	OMIM:619320
HP:0000311	Round face	55790	CSGALNACT1	OMIM:618870
HP:0000311	Round face	4010	LMX1B	ORPHA:495818
HP:0000311	Round face	6812	STXBP1	ORPHA:495818
HP:0000311	Round face	72	ACTG2	ORPHA:2604
HP:0000311	Round face	50940	PDE11A	OMIM:610475
HP:0000311	Round face	1363	CPE	OMIM:619326
HP:0000311	Round face	129563	DIS3L2	ORPHA:2849
HP:0000311	Round face	23384	SPECC1L	ORPHA:1519
HP:0000311	Round face	10472	ZBTB18	ORPHA:36367
HP:0000311	Round face	10472	ZBTB18	OMIM:612337
HP:0000311	Round face	5189	PEX1	OMIM:214100
HP:0000311	Round face	5189	PEX1	ORPHA:3220
HP:0000311	Round face	2542	SLC37A4	ORPHA:79259
HP:0000311	Round face	64175	P3H1	OMIM:610915
HP:0000311	Round face	5934	RBL2	OMIM:619690
HP:0000311	Round face	56992	KIF15	ORPHA:261323
HP:0000311	Round face	6452	SH3BP2	OMIM:118400
HP:0000311	Round face	84992	PIGY	ORPHA:247262
HP:0000311	Round face	84720	PIGO	ORPHA:247262
HP:0000311	Round face	93210	PGAP3	ORPHA:247262
HP:0000311	Round face	284098	PIGW	ORPHA:247262
HP:0000311	Round face	27315	PGAP2	ORPHA:247262
HP:0000311	Round face	55650	PIGV	ORPHA:247262
HP:0000311	Round face	9487	PIGL	ORPHA:247262
HP:0000311	Round face	84068	SLC10A7	OMIM:618363
HP:0000311	Round face	64131	XYLT1	OMIM:615777
HP:0000311	Round face	5573	PRKAR1A	OMIM:610489
HP:0000311	Round face	3183	HNRNPC	OMIM:620688
HP:0000311	Round face	2200	FBN1	ORPHA:969
HP:0000311	Round face	2200	FBN1	OMIM:102370
HP:0000311	Round face	4054	LTBP3	ORPHA:969
HP:0000311	Round face	4054	LTBP3	OMIM:617809
HP:0000311	Round face	23389	MED13L	ORPHA:369891
HP:0000311	Round face	23389	MED13L	OMIM:616789
HP:0000311	Round face	26523	AGO1	OMIM:620292
HP:0000311	Round face	8726	EED	OMIM:617561
HP:0000311	Round face	10524	KAT5	OMIM:619103
HP:0000311	Round face	1501	CTNND2	ORPHA:281
HP:0000311	Round face	9037	SEMA5A	ORPHA:281
HP:0000311	Round face	4000	LMNA	OMIM:151660
HP:0000311	Round face	4000	LMNA	ORPHA:280365
HP:0000311	Round face	4000	LMNA	ORPHA:2348
HP:0000311	Round face	4297	KMT2A	ORPHA:319182
HP:0000311	Round face	5277	PIGA	OMIM:300868
HP:0000311	Round face	23327	NEDD4L	OMIM:617201
HP:0000311	Round face	83696	TRAPPC9	ORPHA:352530
HP:0000311	Round face	5144	PDE4D	OMIM:614613
HP:0000311	Round face	1301	COL11A1	ORPHA:2021
HP:0000311	Round face	1302	COL11A2	ORPHA:2021
HP:0000311	Round face	2773	GNAI3	OMIM:602483
HP:0000311	Round face	7840	ALMS1	ORPHA:64
HP:0000311	Round face	9895	TECPR2	OMIM:615031
HP:0000311	Round face	9895	TECPR2	ORPHA:320385
HP:0000311	Round face	23512	SUZ12	OMIM:618786
HP:0000311	Round face	23512	SUZ12	ORPHA:3447
HP:0000311	Round face	149371	EXOC8	OMIM:619076
HP:0000311	Round face	7862	BRPF1	OMIM:617333
HP:0000311	Round face	1861	TOR1A	OMIM:618947
HP:0000311	Round face	9841	ZBTB24	OMIM:614069
HP:0000311	Round face	5828	PEX2	OMIM:614866
HP:0000311	Round face	79798	ARMC5	OMIM:615954
HP:0000311	Round face	5190	PEX6	ORPHA:3220
HP:0000311	Round face	9719	ADAMTSL2	OMIM:231050
HP:0000311	Round face	3675	ITGA3	OMIM:614748
HP:0000311	Round face	207	AKT1	ORPHA:744
HP:0000311	Round face	4893	NRAS	OMIM:137550
HP:0000311	Round face	3265	HRAS	OMIM:137550
HP:0000311	Round face	6182	MRPL12	OMIM:618951
HP:0000311	Round face	28957	MRPS28	OMIM:618958
HP:0000311	Round face	6901	TAFAZZIN	OMIM:302060
HP:0000311	Round face	93587	TRMT10A	ORPHA:391408
HP:0000311	Round face	84919	PPP1R15B	ORPHA:391408
HP:0000311	Round face	124583	CANT1	OMIM:251450
HP:0000311	Round face	23162	MAPK8IP3	OMIM:618443
HP:0000311	Round face	79989	IFT56	OMIM:619534
HP:0000311	Round face	55023	PHIP	OMIM:617991
HP:0000311	Round face	10491	CRTAP	OMIM:610682
HP:0000311	Round face	2146	EZH2	OMIM:277590
HP:0000311	Round face	2146	EZH2	ORPHA:3447
HP:0000311	Round face	1968	EIF2S3	ORPHA:85282
HP:0000311	Round face	79791	FBXO31	OMIM:615979
HP:0000311	Round face	64324	NSD1	ORPHA:3447
HP:0000311	Round face	5965	RECQL	OMIM:620370
HP:0000311	Round face	583	BBS2	OMIM:615981
HP:0000311	Round face	9427	ECEL1	OMIM:615065
HP:0000311	Round face	3239	HOXD13	OMIM:113300
HP:0000311	Round face	2703	GJA8	OMIM:612474
HP:0000311	Round face	2702	GJA5	OMIM:612474
HP:0000311	Round face	51025	PAM16	OMIM:613320
HP:0000311	Round face	10801	SEPTIN9	ORPHA:2901
HP:0000311	Round face	9898	UBAP2L	OMIM:620494
HP:0002002	Deep philtrum	9653	HS2ST1	OMIM:619194
HP:0002002	Deep philtrum	50801	KCNK4	OMIM:618381
HP:0002002	Deep philtrum	253738	EBF3	OMIM:617330
HP:0002002	Deep philtrum	8367	H4C5	OMIM:619950
HP:0002002	Deep philtrum	8294	H4C9	OMIM:619951
HP:0002002	Deep philtrum	51604	PIGT	OMIM:615398
HP:0002002	Deep philtrum	94005	PIGS	OMIM:618143
HP:0002002	Deep philtrum	3572	IL6ST	OMIM:619750
HP:0002002	Deep philtrum	4683	NBN	OMIM:251260
HP:0002002	Deep philtrum	4683	NBN	ORPHA:647
HP:0002002	Deep philtrum	51126	NAA20	OMIM:619717
HP:0002002	Deep philtrum	6885	MAP3K7	OMIM:617137
HP:0002002	Deep philtrum	26053	AUTS2	OMIM:615834
HP:0002002	Deep philtrum	673	BRAF	OMIM:115150
HP:0002002	Deep philtrum	55627	SMPD4	OMIM:618622
HP:0002002	Deep philtrum	1788	DNMT3A	OMIM:615879
HP:0002002	Deep philtrum	1788	DNMT3A	ORPHA:404443
HP:0002002	Deep philtrum	8818	DPM2	ORPHA:329178
HP:0002002	Deep philtrum	4897	NRCAM	OMIM:619833
HP:0002002	Deep philtrum	9968	MED12	OMIM:309520
HP:0002002	Deep philtrum	2131	EXT1	ORPHA:502
HP:0002002	Deep philtrum	5885	RAD21	ORPHA:502
HP:0002002	Deep philtrum	7227	TRPS1	ORPHA:502
HP:0002002	Deep philtrum	7227	TRPS1	OMIM:190350
HP:0002002	Deep philtrum	55209	SETD5	ORPHA:404440
HP:0002002	Deep philtrum	7707	ZNF148	OMIM:617260
HP:0002002	Deep philtrum	4893	NRAS	OMIM:137550
HP:0002002	Deep philtrum	3265	HRAS	OMIM:137550
HP:0002002	Deep philtrum	3020	H3-3A	OMIM:619720
HP:0002002	Deep philtrum	1806	DPYD	ORPHA:1675
HP:0002002	Deep philtrum	526	ATP6V1B2	OMIM:616455
HP:0002002	Deep philtrum	5500	PPP1CB	OMIM:617506
HP:0002002	Deep philtrum	5500	PPP1CB	ORPHA:2701
HP:0002002	Deep philtrum	3708	ITPR1	OMIM:117360
HP:0002002	Deep philtrum	64093	SMOC1	OMIM:206920
HP:0002002	Deep philtrum	9915	ARNT2	OMIM:615926
HP:0002002	Deep philtrum	388015	RTL1	ORPHA:96334
HP:0002002	Deep philtrum	8788	DLK1	ORPHA:96334
HP:0002002	Deep philtrum	55384	MEG3	ORPHA:96334
HP:0002002	Deep philtrum	6925	TCF4	OMIM:610954
HP:0002002	Deep philtrum	4952	OCRL	ORPHA:534
HP:0002002	Deep philtrum	57231	SNX14	ORPHA:397709
HP:0002002	Deep philtrum	55343	SLC35C1	ORPHA:99843
HP:0002002	Deep philtrum	4626	MYH8	OMIM:158300
HP:0002002	Deep philtrum	4256	MGP	OMIM:245150
HP:0002002	Deep philtrum	8260	NAA10	OMIM:300855
HP:0002002	Deep philtrum	8481	OFD1	OMIM:300804
HP:0002002	Deep philtrum	114034	TOE1	OMIM:614969
HP:0002002	Deep philtrum	3339	HSPG2	OMIM:255800
HP:0002002	Deep philtrum	22856	CHSY1	OMIM:605282
HP:0002002	Deep philtrum	64324	NSD1	ORPHA:3447
HP:0002002	Deep philtrum	23512	SUZ12	ORPHA:3447
HP:0002002	Deep philtrum	2146	EZH2	ORPHA:3447
HP:0002002	Deep philtrum	139886	SPIN4	OMIM:301114
HP:0002002	Deep philtrum	7546	ZIC2	OMIM:609637
HP:0002002	Deep philtrum	6792	CDKL5	ORPHA:505652
HP:0002002	Deep philtrum	1387	CREBBP	OMIM:618332
HP:0002002	Deep philtrum	6261	RYR1	OMIM:619542
HP:0002002	Deep philtrum	2033	EP300	OMIM:618333
HP:0002002	Deep philtrum	84342	COG8	OMIM:611182
HP:0002002	Deep philtrum	3832	KIF11	OMIM:152950
HP:0002002	Deep philtrum	5087	PBX1	OMIM:617641
HP:0002002	Deep philtrum	5567	PRKACB	OMIM:619143
HP:0002002	Deep philtrum	26173	INTS1	OMIM:618571
HP:0002002	Deep philtrum	867	CBL	OMIM:613563
HP:0002002	Deep philtrum	8036	SHOC2	ORPHA:2701
HP:0002002	Deep philtrum	51025	PAM16	OMIM:613320
HP:0002002	Deep philtrum	4858	NOVA2	OMIM:618859
HP:0002002	Deep philtrum	11338	U2AF2	OMIM:620535
HP:0002002	Deep philtrum	7020	TFAP2A	ORPHA:1297
HP:0002002	Deep philtrum	2783	GNB2	OMIM:619503
HP:0002002	Deep philtrum	7319	UBE2A	ORPHA:163956
HP:0002002	Deep philtrum	196528	ARID2	OMIM:617808
HP:0002002	Deep philtrum	26834	RNU4-2	OMIM:620851
HP:0002002	Deep philtrum	9343	EFTUD2	OMIM:610536
HP:0002002	Deep philtrum	2200	FBN1	OMIM:102370
HP:0002002	Deep philtrum	6888	TALDO1	OMIM:606003
HP:0002002	Deep philtrum	3720	JARID2	OMIM:620098
HP:0002002	Deep philtrum	6874	TAF4	OMIM:620450
HP:0002002	Deep philtrum	5813	PURA	ORPHA:314655
HP:0000316	Hypertelorism	26235	FBXL4	OMIM:615471
HP:0000316	Hypertelorism	8216	LZTR1	OMIM:616564
HP:0000316	Hypertelorism	8216	LZTR1	OMIM:605275
HP:0000316	Hypertelorism	8216	LZTR1	ORPHA:648
HP:0000316	Hypertelorism	2304	FOXE1	OMIM:241850
HP:0000316	Hypertelorism	54101	RIPK4	ORPHA:1401
HP:0000316	Hypertelorism	54101	RIPK4	OMIM:263650
HP:0000316	Hypertelorism	2263	FGFR2	OMIM:149730
HP:0000316	Hypertelorism	2263	FGFR2	ORPHA:168624
HP:0000316	Hypertelorism	2263	FGFR2	OMIM:123790
HP:0000316	Hypertelorism	2263	FGFR2	ORPHA:794
HP:0000316	Hypertelorism	2263	FGFR2	OMIM:123500
HP:0000316	Hypertelorism	2263	FGFR2	ORPHA:87
HP:0000316	Hypertelorism	2263	FGFR2	ORPHA:93260
HP:0000316	Hypertelorism	2263	FGFR2	ORPHA:93258
HP:0000316	Hypertelorism	2263	FGFR2	ORPHA:93259
HP:0000316	Hypertelorism	2263	FGFR2	OMIM:614592
HP:0000316	Hypertelorism	2263	FGFR2	OMIM:101400
HP:0000316	Hypertelorism	2263	FGFR2	OMIM:101200
HP:0000316	Hypertelorism	2263	FGFR2	ORPHA:207
HP:0000316	Hypertelorism	2263	FGFR2	ORPHA:313855
HP:0000316	Hypertelorism	2263	FGFR2	OMIM:101600
HP:0000316	Hypertelorism	2263	FGFR2	ORPHA:1555
HP:0000316	Hypertelorism	2263	FGFR2	ORPHA:1540
HP:0000316	Hypertelorism	4897	NRCAM	OMIM:619833
HP:0000316	Hypertelorism	7021	TFAP2B	OMIM:169100
HP:0000316	Hypertelorism	7021	TFAP2B	ORPHA:46627
HP:0000316	Hypertelorism	5927	KDM5A	OMIM:620820
HP:0000316	Hypertelorism	2261	FGFR3	ORPHA:53271
HP:0000316	Hypertelorism	2261	FGFR3	ORPHA:794
HP:0000316	Hypertelorism	2261	FGFR3	ORPHA:93262
HP:0000316	Hypertelorism	2261	FGFR3	OMIM:602849
HP:0000316	Hypertelorism	2261	FGFR3	ORPHA:35099
HP:0000316	Hypertelorism	2261	FGFR3	OMIM:612247
HP:0000316	Hypertelorism	1788	DNMT3A	ORPHA:404443
HP:0000316	Hypertelorism	1788	DNMT3A	OMIM:615879
HP:0000316	Hypertelorism	51	ACOX1	ORPHA:2971
HP:0000316	Hypertelorism	51	ACOX1	OMIM:264470
HP:0000316	Hypertelorism	5781	PTPN11	OMIM:156250
HP:0000316	Hypertelorism	5781	PTPN11	ORPHA:500
HP:0000316	Hypertelorism	5781	PTPN11	ORPHA:648
HP:0000316	Hypertelorism	5781	PTPN11	OMIM:151100
HP:0000316	Hypertelorism	5781	PTPN11	OMIM:163950
HP:0000316	Hypertelorism	1836	SLC26A2	ORPHA:56304
HP:0000316	Hypertelorism	1836	SLC26A2	ORPHA:628
HP:0000316	Hypertelorism	4125	MAN2B1	ORPHA:309282
HP:0000316	Hypertelorism	6662	SOX9	ORPHA:140
HP:0000316	Hypertelorism	6662	SOX9	OMIM:114290
HP:0000316	Hypertelorism	9578	CDC42BPB	OMIM:619841
HP:0000316	Hypertelorism	2737	GLI3	ORPHA:380
HP:0000316	Hypertelorism	2737	GLI3	ORPHA:36
HP:0000316	Hypertelorism	2737	GLI3	ORPHA:672
HP:0000316	Hypertelorism	2737	GLI3	OMIM:174200
HP:0000316	Hypertelorism	2737	GLI3	OMIM:175700
HP:0000316	Hypertelorism	80816	ASXL3	OMIM:615485
HP:0000316	Hypertelorism	80816	ASXL3	ORPHA:352577
HP:0000316	Hypertelorism	1855	DVL1	OMIM:616331
HP:0000316	Hypertelorism	1855	DVL1	OMIM:180700
HP:0000316	Hypertelorism	1855	DVL1	ORPHA:3107
HP:0000316	Hypertelorism	27245	AHDC1	ORPHA:412069
HP:0000316	Hypertelorism	27245	AHDC1	OMIM:615829
HP:0000316	Hypertelorism	2137	EXTL3	OMIM:617425
HP:0000316	Hypertelorism	5184	PEPD	OMIM:170100
HP:0000316	Hypertelorism	5184	PEPD	ORPHA:742
HP:0000316	Hypertelorism	55690	PACS1	OMIM:615009
HP:0000316	Hypertelorism	55690	PACS1	ORPHA:329224
HP:0000316	Hypertelorism	2132	EXT2	ORPHA:466926
HP:0000316	Hypertelorism	2132	EXT2	OMIM:616682
HP:0000316	Hypertelorism	84520	GON7	OMIM:619603
HP:0000316	Hypertelorism	84520	GON7	ORPHA:2065
HP:0000316	Hypertelorism	24142	NAA80	OMIM:620830
HP:0000316	Hypertelorism	57082	KNL1	OMIM:604321
HP:0000316	Hypertelorism	79158	GNPTAB	OMIM:252500
HP:0000316	Hypertelorism	55636	CHD7	ORPHA:138
HP:0000316	Hypertelorism	55636	CHD7	OMIM:214800
HP:0000316	Hypertelorism	55636	CHD7	ORPHA:432
HP:0000316	Hypertelorism	9723	SEMA3E	ORPHA:138
HP:0000316	Hypertelorism	55650	PIGV	OMIM:239300
HP:0000316	Hypertelorism	55650	PIGV	ORPHA:247262
HP:0000316	Hypertelorism	79868	ALG13	ORPHA:324422
HP:0000316	Hypertelorism	79868	ALG13	OMIM:300884
HP:0000316	Hypertelorism	113189	CHST14	ORPHA:2953
HP:0000316	Hypertelorism	113189	CHST14	OMIM:601776
HP:0000316	Hypertelorism	29940	DSE	ORPHA:2953
HP:0000316	Hypertelorism	29940	DSE	OMIM:615539
HP:0000316	Hypertelorism	10606	PAICS	OMIM:619859
HP:0000316	Hypertelorism	64359	NXN	OMIM:618529
HP:0000316	Hypertelorism	64359	NXN	ORPHA:1507
HP:0000316	Hypertelorism	9968	MED12	ORPHA:93932
HP:0000316	Hypertelorism	9968	MED12	OMIM:305450
HP:0000316	Hypertelorism	9968	MED12	OMIM:300895
HP:0000316	Hypertelorism	81857	MED25	ORPHA:464738
HP:0000316	Hypertelorism	81857	MED25	OMIM:616449
HP:0000316	Hypertelorism	158326	FREM1	ORPHA:2717
HP:0000316	Hypertelorism	158326	FREM1	OMIM:248450
HP:0000316	Hypertelorism	158326	FREM1	OMIM:614485
HP:0000316	Hypertelorism	2697	GJA1	ORPHA:2710
HP:0000316	Hypertelorism	2697	GJA1	OMIM:218400
HP:0000316	Hypertelorism	2697	GJA1	ORPHA:1522
HP:0000316	Hypertelorism	9401	RECQL4	OMIM:218600
HP:0000316	Hypertelorism	9401	RECQL4	OMIM:268400
HP:0000316	Hypertelorism	9401	RECQL4	ORPHA:1225
HP:0000316	Hypertelorism	171023	ASXL1	ORPHA:97297
HP:0000316	Hypertelorism	171023	ASXL1	OMIM:605039
HP:0000316	Hypertelorism	10484	SEC23A	OMIM:607812
HP:0000316	Hypertelorism	10484	SEC23A	ORPHA:50814
HP:0000316	Hypertelorism	23347	SMCHD1	OMIM:603457
HP:0000316	Hypertelorism	1500	CTNND1	OMIM:617681
HP:0000316	Hypertelorism	1500	CTNND1	ORPHA:1997
HP:0000316	Hypertelorism	4330	MN1	OMIM:618774
HP:0000316	Hypertelorism	5528	PPP2R5D	OMIM:616355
HP:0000316	Hypertelorism	64121	RRAGC	OMIM:620609
HP:0000316	Hypertelorism	23327	NEDD4L	OMIM:617201
HP:0000316	Hypertelorism	8036	SHOC2	ORPHA:2701
HP:0000316	Hypertelorism	8036	SHOC2	OMIM:607721
HP:0000316	Hypertelorism	5500	PPP1CB	ORPHA:2701
HP:0000316	Hypertelorism	5500	PPP1CB	OMIM:617506
HP:0000316	Hypertelorism	11193	WBP4	OMIM:620852
HP:0000316	Hypertelorism	6602	SMARCD1	OMIM:618779
HP:0000316	Hypertelorism	4929	NR4A2	ORPHA:1617
HP:0000316	Hypertelorism	10716	TBR1	ORPHA:1617
HP:0000316	Hypertelorism	26040	SETBP1	OMIM:269150
HP:0000316	Hypertelorism	26040	SETBP1	ORPHA:798
HP:0000316	Hypertelorism	26040	SETBP1	OMIM:616078
HP:0000316	Hypertelorism	26834	RNU4-2	OMIM:620851
HP:0000316	Hypertelorism	2316	FLNA	ORPHA:90650
HP:0000316	Hypertelorism	2316	FLNA	ORPHA:90652
HP:0000316	Hypertelorism	2316	FLNA	ORPHA:1826
HP:0000316	Hypertelorism	2316	FLNA	ORPHA:555877
HP:0000316	Hypertelorism	2316	FLNA	OMIM:309350
HP:0000316	Hypertelorism	2316	FLNA	OMIM:305620
HP:0000316	Hypertelorism	2316	FLNA	OMIM:304120
HP:0000316	Hypertelorism	2316	FLNA	ORPHA:88630
HP:0000316	Hypertelorism	2316	FLNA	OMIM:314400
HP:0000316	Hypertelorism	2316	FLNA	OMIM:300244
HP:0000316	Hypertelorism	2316	FLNA	ORPHA:2484
HP:0000316	Hypertelorism	2316	FLNA	OMIM:311300
HP:0000316	Hypertelorism	2316	FLNA	OMIM:300048
HP:0000316	Hypertelorism	92482	BBIP1	ORPHA:110
HP:0000316	Hypertelorism	80184	CEP290	ORPHA:110
HP:0000316	Hypertelorism	80184	CEP290	ORPHA:564
HP:0000316	Hypertelorism	11020	IFT27	ORPHA:110
HP:0000316	Hypertelorism	582	BBS1	ORPHA:110
HP:0000316	Hypertelorism	49855	SCAPER	ORPHA:110
HP:0000316	Hypertelorism	4867	NPHP1	ORPHA:110
HP:0000316	Hypertelorism	51057	WDPCP	ORPHA:110
HP:0000316	Hypertelorism	51057	WDPCP	OMIM:217085
HP:0000316	Hypertelorism	132320	SCLT1	ORPHA:110
HP:0000316	Hypertelorism	27241	BBS9	ORPHA:110
HP:0000316	Hypertelorism	84984	CEP19	ORPHA:110
HP:0000316	Hypertelorism	22954	TRIM32	ORPHA:110
HP:0000316	Hypertelorism	54903	MKS1	ORPHA:110
HP:0000316	Hypertelorism	54903	MKS1	ORPHA:564
HP:0000316	Hypertelorism	54903	MKS1	OMIM:617121
HP:0000316	Hypertelorism	54903	MKS1	OMIM:249000
HP:0000316	Hypertelorism	79738	BBS10	ORPHA:110
HP:0000316	Hypertelorism	123016	TTC8	ORPHA:110
HP:0000316	Hypertelorism	26160	IFT172	ORPHA:110
HP:0000316	Hypertelorism	583	BBS2	ORPHA:110
HP:0000316	Hypertelorism	585	BBS4	ORPHA:110
HP:0000316	Hypertelorism	8195	MKKS	ORPHA:110
HP:0000316	Hypertelorism	54585	LZTFL1	ORPHA:110
HP:0000316	Hypertelorism	55212	BBS7	ORPHA:110
HP:0000316	Hypertelorism	55212	BBS7	OMIM:615984
HP:0000316	Hypertelorism	166379	BBS12	ORPHA:110
HP:0000316	Hypertelorism	10806	SDCCAG8	ORPHA:110
HP:0000316	Hypertelorism	157657	CFAP418	ORPHA:110
HP:0000316	Hypertelorism	84100	ARL6	ORPHA:110
HP:0000316	Hypertelorism	129880	BBS5	ORPHA:110
HP:0000316	Hypertelorism	80173	IFT74	ORPHA:110
HP:0000316	Hypertelorism	11285	B4GALT7	OMIM:130070
HP:0000316	Hypertelorism	5518	PPP2R1A	OMIM:616362
HP:0000316	Hypertelorism	5518	PPP2R1A	ORPHA:457284
HP:0000316	Hypertelorism	1186	CLCN7	OMIM:618541
HP:0000316	Hypertelorism	55768	NGLY1	OMIM:615273
HP:0000316	Hypertelorism	23512	SUZ12	OMIM:618786
HP:0000316	Hypertelorism	23512	SUZ12	ORPHA:3447
HP:0000316	Hypertelorism	3590	IL11RA	OMIM:614188
HP:0000316	Hypertelorism	23126	POGZ	OMIM:616364
HP:0000316	Hypertelorism	23126	POGZ	ORPHA:468678
HP:0000316	Hypertelorism	57680	CHD8	OMIM:615032
HP:0000316	Hypertelorism	57680	CHD8	ORPHA:261229
HP:0000316	Hypertelorism	2200	FBN1	OMIM:614185
HP:0000316	Hypertelorism	2200	FBN1	ORPHA:2462
HP:0000316	Hypertelorism	2200	FBN1	ORPHA:91387
HP:0000316	Hypertelorism	8558	CDK10	OMIM:617694
HP:0000316	Hypertelorism	27125	AFF4	OMIM:616368
HP:0000316	Hypertelorism	116115	ZNF526	OMIM:619877
HP:0000316	Hypertelorism	79770	TXNDC15	OMIM:619879
HP:0000316	Hypertelorism	79770	TXNDC15	ORPHA:564
HP:0000316	Hypertelorism	5979	RET	ORPHA:1848
HP:0000316	Hypertelorism	8516	ITGA8	ORPHA:1848
HP:0000316	Hypertelorism	8516	ITGA8	OMIM:191830
HP:0000316	Hypertelorism	26281	FGF20	ORPHA:1848
HP:0000316	Hypertelorism	2674	GFRA1	ORPHA:1848
HP:0000316	Hypertelorism	7484	WNT9B	ORPHA:1848
HP:0000316	Hypertelorism	80000	GREB1L	ORPHA:1848
HP:0000316	Hypertelorism	5727	PTCH1	OMIM:610828
HP:0000316	Hypertelorism	5727	PTCH1	ORPHA:377
HP:0000316	Hypertelorism	5727	PTCH1	OMIM:109400
HP:0000316	Hypertelorism	79718	TBL1XR1	OMIM:602342
HP:0000316	Hypertelorism	79718	TBL1XR1	ORPHA:487825
HP:0000316	Hypertelorism	54828	BCAS3	OMIM:619641
HP:0000316	Hypertelorism	30813	VSX1	OMIM:614195
HP:0000316	Hypertelorism	83479	DDX59	ORPHA:2919
HP:0000316	Hypertelorism	83479	DDX59	OMIM:174300
HP:0000316	Hypertelorism	9772	TMEM94	OMIM:618316
HP:0000316	Hypertelorism	79633	FAT4	ORPHA:314679
HP:0000316	Hypertelorism	79633	FAT4	ORPHA:2136
HP:0000316	Hypertelorism	79633	FAT4	OMIM:616006
HP:0000316	Hypertelorism	79633	FAT4	OMIM:615546
HP:0000316	Hypertelorism	8642	DCHS1	ORPHA:314679
HP:0000316	Hypertelorism	8642	DCHS1	OMIM:601390
HP:0000316	Hypertelorism	79728	PALB2	OMIM:610832
HP:0000316	Hypertelorism	79728	PALB2	ORPHA:84
HP:0000316	Hypertelorism	57688	ZSWIM6	OMIM:603671
HP:0000316	Hypertelorism	57688	ZSWIM6	ORPHA:1827
HP:0000316	Hypertelorism	3930	LBR	OMIM:215140
HP:0000316	Hypertelorism	3930	LBR	OMIM:169400
HP:0000316	Hypertelorism	8643	PTCH2	ORPHA:377
HP:0000316	Hypertelorism	51684	SUFU	ORPHA:377
HP:0000316	Hypertelorism	51684	SUFU	OMIM:617757
HP:0000316	Hypertelorism	2239	GPC4	ORPHA:373
HP:0000316	Hypertelorism	2239	GPC4	OMIM:301026
HP:0000316	Hypertelorism	2239	GPC4	OMIM:312870
HP:0000316	Hypertelorism	2239	GPC4	ORPHA:2662
HP:0000316	Hypertelorism	2719	GPC3	ORPHA:373
HP:0000316	Hypertelorism	2719	GPC3	OMIM:312870
HP:0000316	Hypertelorism	23483	TGDS	OMIM:616145
HP:0000316	Hypertelorism	23483	TGDS	ORPHA:1388
HP:0000316	Hypertelorism	84168	ANTXR1	OMIM:230740
HP:0000316	Hypertelorism	84168	ANTXR1	ORPHA:2067
HP:0000316	Hypertelorism	2260	FGFR1	OMIM:166250
HP:0000316	Hypertelorism	2260	FGFR1	ORPHA:93258
HP:0000316	Hypertelorism	2260	FGFR1	ORPHA:2117
HP:0000316	Hypertelorism	2260	FGFR1	OMIM:615465
HP:0000316	Hypertelorism	2260	FGFR1	ORPHA:432
HP:0000316	Hypertelorism	2260	FGFR1	OMIM:101600
HP:0000316	Hypertelorism	2260	FGFR1	ORPHA:2645
HP:0000316	Hypertelorism	64919	BCL11B	OMIM:617237
HP:0000316	Hypertelorism	64919	BCL11B	OMIM:618092
HP:0000316	Hypertelorism	2720	GLB1	OMIM:230500
HP:0000316	Hypertelorism	23499	MACF1	OMIM:618325
HP:0000316	Hypertelorism	4087	SMAD2	OMIM:619656
HP:0000316	Hypertelorism	4087	SMAD2	ORPHA:60030
HP:0000316	Hypertelorism	4087	SMAD2	ORPHA:91387
HP:0000316	Hypertelorism	6885	MAP3K7	ORPHA:1826
HP:0000316	Hypertelorism	6885	MAP3K7	OMIM:157800
HP:0000316	Hypertelorism	6885	MAP3K7	OMIM:617137
HP:0000316	Hypertelorism	51322	WAC	ORPHA:466950
HP:0000316	Hypertelorism	51322	WAC	OMIM:616708
HP:0000316	Hypertelorism	3339	HSPG2	OMIM:255800
HP:0000316	Hypertelorism	3339	HSPG2	ORPHA:800
HP:0000316	Hypertelorism	6138	RPL15	ORPHA:124
HP:0000316	Hypertelorism	6224	RPS20	ORPHA:124
HP:0000316	Hypertelorism	6165	RPL35A	ORPHA:124
HP:0000316	Hypertelorism	6165	RPL35A	OMIM:612528
HP:0000316	Hypertelorism	6132	RPL8	ORPHA:124
HP:0000316	Hypertelorism	6223	RPS19	ORPHA:124
HP:0000316	Hypertelorism	6223	RPS19	OMIM:105650
HP:0000316	Hypertelorism	6232	RPS27	ORPHA:124
HP:0000316	Hypertelorism	55027	HEATR3	ORPHA:124
HP:0000316	Hypertelorism	55027	HEATR3	OMIM:620072
HP:0000316	Hypertelorism	6160	RPL31	ORPHA:124
HP:0000316	Hypertelorism	6201	RPS7	ORPHA:124
HP:0000316	Hypertelorism	6201	RPS7	OMIM:612563
HP:0000316	Hypertelorism	6155	RPL27	ORPHA:124
HP:0000316	Hypertelorism	6234	RPS28	ORPHA:124
HP:0000316	Hypertelorism	6135	RPL11	ORPHA:124
HP:0000316	Hypertelorism	6229	RPS24	ORPHA:124
HP:0000316	Hypertelorism	6125	RPL5	ORPHA:124
HP:0000316	Hypertelorism	6125	RPL5	OMIM:612561
HP:0000316	Hypertelorism	6204	RPS10	ORPHA:124
HP:0000316	Hypertelorism	2623	GATA1	ORPHA:124
HP:0000316	Hypertelorism	6133	RPL9	ORPHA:124
HP:0000316	Hypertelorism	6231	RPS26	ORPHA:124
HP:0000316	Hypertelorism	11224	RPL35	ORPHA:124
HP:0000316	Hypertelorism	6218	RPS17	ORPHA:124
HP:0000316	Hypertelorism	6154	RPL26	ORPHA:124
HP:0000316	Hypertelorism	6210	RPS15A	ORPHA:124
HP:0000316	Hypertelorism	90121	TSR2	ORPHA:124
HP:0000316	Hypertelorism	6141	RPL18	ORPHA:124
HP:0000316	Hypertelorism	6235	RPS29	ORPHA:124
HP:0000316	Hypertelorism	51816	ADA2	ORPHA:124
HP:0000316	Hypertelorism	257	ALX3	ORPHA:391474
HP:0000316	Hypertelorism	257	ALX3	OMIM:136760
HP:0000316	Hypertelorism	25970	SH2B1	ORPHA:261197
HP:0000316	Hypertelorism	56160	NSMCE3	OMIM:617241
HP:0000316	Hypertelorism	9742	IFT140	OMIM:266920
HP:0000316	Hypertelorism	5881	RAC3	OMIM:618577
HP:0000316	Hypertelorism	60529	ALX4	ORPHA:228390
HP:0000316	Hypertelorism	60529	ALX4	OMIM:609597
HP:0000316	Hypertelorism	60529	ALX4	OMIM:613451
HP:0000316	Hypertelorism	26173	INTS1	OMIM:618571
HP:0000316	Hypertelorism	55656	INTS8	OMIM:618572
HP:0000316	Hypertelorism	84188	FAR1	OMIM:616154
HP:0000316	Hypertelorism	84188	FAR1	ORPHA:438178
HP:0000316	Hypertelorism	7046	TGFBR1	OMIM:609192
HP:0000316	Hypertelorism	7046	TGFBR1	ORPHA:60030
HP:0000316	Hypertelorism	7046	TGFBR1	OMIM:132800
HP:0000316	Hypertelorism	7046	TGFBR1	ORPHA:91387
HP:0000316	Hypertelorism	5908	RAP1B	OMIM:620654
HP:0000316	Hypertelorism	5910	RAP1GDS1	OMIM:620655
HP:0000316	Hypertelorism	7291	TWIST1	ORPHA:794
HP:0000316	Hypertelorism	7291	TWIST1	OMIM:180750
HP:0000316	Hypertelorism	7291	TWIST1	OMIM:101400
HP:0000316	Hypertelorism	7291	TWIST1	ORPHA:35099
HP:0000316	Hypertelorism	7291	TWIST1	OMIM:617746
HP:0000316	Hypertelorism	4088	SMAD3	ORPHA:284984
HP:0000316	Hypertelorism	4088	SMAD3	OMIM:613795
HP:0000316	Hypertelorism	4088	SMAD3	ORPHA:60030
HP:0000316	Hypertelorism	4088	SMAD3	ORPHA:91387
HP:0000316	Hypertelorism	4921	DDR2	OMIM:271665
HP:0000316	Hypertelorism	9488	PIGB	OMIM:618580
HP:0000316	Hypertelorism	57459	GATAD2B	OMIM:615074
HP:0000316	Hypertelorism	57459	GATAD2B	ORPHA:363686
HP:0000316	Hypertelorism	8925	HERC1	OMIM:617011
HP:0000316	Hypertelorism	8925	HERC1	ORPHA:457359
HP:0000316	Hypertelorism	56896	DPYSL5	OMIM:619435
HP:0000316	Hypertelorism	56896	DPYSL5	ORPHA:7
HP:0000316	Hypertelorism	8473	OGT	OMIM:300997
HP:0000316	Hypertelorism	8573	CASK	OMIM:300749
HP:0000316	Hypertelorism	8573	CASK	ORPHA:163937
HP:0000316	Hypertelorism	8573	CASK	OMIM:300422
HP:0000316	Hypertelorism	54973	INTS11	OMIM:620428
HP:0000316	Hypertelorism	6418	SET	OMIM:618106
HP:0000316	Hypertelorism	51259	TMEM216	OMIM:608091
HP:0000316	Hypertelorism	51259	TMEM216	ORPHA:564
HP:0000316	Hypertelorism	51259	TMEM216	ORPHA:2754
HP:0000316	Hypertelorism	79813	EHMT1	ORPHA:96147
HP:0000316	Hypertelorism	79813	EHMT1	OMIM:610253
HP:0000316	Hypertelorism	4703	NEB	OMIM:256030
HP:0000316	Hypertelorism	4703	NEB	ORPHA:171433
HP:0000316	Hypertelorism	4703	NEB	ORPHA:171439
HP:0000316	Hypertelorism	5308	PITX2	ORPHA:782
HP:0000316	Hypertelorism	2296	FOXC1	ORPHA:782
HP:0000316	Hypertelorism	2296	FOXC1	OMIM:602482
HP:0000316	Hypertelorism	374654	KIF7	ORPHA:36
HP:0000316	Hypertelorism	374654	KIF7	ORPHA:166024
HP:0000316	Hypertelorism	374654	KIF7	ORPHA:2754
HP:0000316	Hypertelorism	374654	KIF7	OMIM:200990
HP:0000316	Hypertelorism	374654	KIF7	OMIM:607131
HP:0000316	Hypertelorism	7372	UMPS	ORPHA:30
HP:0000316	Hypertelorism	5515	PPP2CA	OMIM:618354
HP:0000316	Hypertelorism	23114	NFASC	OMIM:618356
HP:0000316	Hypertelorism	5649	RELN	ORPHA:89844
HP:0000316	Hypertelorism	10300	KATNB1	ORPHA:89844
HP:0000316	Hypertelorism	54820	NDE1	ORPHA:89844
HP:0000316	Hypertelorism	56975	FAM20C	OMIM:259775
HP:0000316	Hypertelorism	5934	RBL2	OMIM:619690
HP:0000316	Hypertelorism	55777	MBD5	OMIM:156200
HP:0000316	Hypertelorism	3039	HBA1	ORPHA:98791
HP:0000316	Hypertelorism	3040	HBA2	ORPHA:98791
HP:0000316	Hypertelorism	51132	RLIM	OMIM:300978
HP:0000316	Hypertelorism	51434	ANAPC7	OMIM:619699
HP:0000316	Hypertelorism	7468	NSD2	OMIM:619695
HP:0000316	Hypertelorism	7468	NSD2	OMIM:194190
HP:0000316	Hypertelorism	7468	NSD2	ORPHA:280
HP:0000316	Hypertelorism	551	AVP	OMIM:125700
HP:0000316	Hypertelorism	201163	FLCN	OMIM:610883
HP:0000316	Hypertelorism	3183	HNRNPC	OMIM:620688
HP:0000316	Hypertelorism	1312	COMT	ORPHA:567
HP:0000316	Hypertelorism	221037	JMJD1C	ORPHA:567
HP:0000316	Hypertelorism	2812	GP1BB	ORPHA:567
HP:0000316	Hypertelorism	6239	RREB1	ORPHA:567
HP:0000316	Hypertelorism	6899	TBX1	ORPHA:567
HP:0000316	Hypertelorism	6899	TBX1	OMIM:217095
HP:0000316	Hypertelorism	6899	TBX1	ORPHA:1727
HP:0000316	Hypertelorism	6899	TBX1	OMIM:188400
HP:0000316	Hypertelorism	7290	HIRA	ORPHA:567
HP:0000316	Hypertelorism	9632	SEC24C	ORPHA:567
HP:0000316	Hypertelorism	7353	UFD1	ORPHA:567
HP:0000316	Hypertelorism	421	ARVCF	ORPHA:567
HP:0000316	Hypertelorism	1009	CDH11	OMIM:211380
HP:0000316	Hypertelorism	1009	CDH11	ORPHA:1299
HP:0000316	Hypertelorism	1009	CDH11	OMIM:619736
HP:0000316	Hypertelorism	84314	TMEM107	ORPHA:564
HP:0000316	Hypertelorism	26123	TCTN3	ORPHA:564
HP:0000316	Hypertelorism	26123	TCTN3	OMIM:258860
HP:0000316	Hypertelorism	26123	TCTN3	ORPHA:2753
HP:0000316	Hypertelorism	26123	TCTN3	ORPHA:2754
HP:0000316	Hypertelorism	79867	TCTN2	ORPHA:564
HP:0000316	Hypertelorism	80776	B9D2	ORPHA:564
HP:0000316	Hypertelorism	79600	TCTN1	ORPHA:564
HP:0000316	Hypertelorism	57096	RPGRIP1	ORPHA:564
HP:0000316	Hypertelorism	79848	CSPP1	ORPHA:564
HP:0000316	Hypertelorism	79848	CSPP1	OMIM:615636
HP:0000316	Hypertelorism	79848	CSPP1	ORPHA:397715
HP:0000316	Hypertelorism	57545	CC2D2A	ORPHA:564
HP:0000316	Hypertelorism	79583	TMEM231	ORPHA:564
HP:0000316	Hypertelorism	79583	TMEM231	ORPHA:2754
HP:0000316	Hypertelorism	91147	TMEM67	ORPHA:564
HP:0000316	Hypertelorism	91147	TMEM67	OMIM:216360
HP:0000316	Hypertelorism	27077	B9D1	ORPHA:564
HP:0000316	Hypertelorism	23322	RPGRIP1L	ORPHA:564
HP:0000316	Hypertelorism	65062	TMEM237	ORPHA:564
HP:0000316	Hypertelorism	65062	TMEM237	OMIM:614424
HP:0000316	Hypertelorism	6045	RNF2	OMIM:619460
HP:0000316	Hypertelorism	23111	SPART	ORPHA:101000
HP:0000316	Hypertelorism	23111	SPART	OMIM:275900
HP:0000316	Hypertelorism	4784	NFIX	ORPHA:561
HP:0000316	Hypertelorism	1301	COL11A1	ORPHA:560
HP:0000316	Hypertelorism	1301	COL11A1	OMIM:154780
HP:0000316	Hypertelorism	1301	COL11A1	ORPHA:2021
HP:0000316	Hypertelorism	633	BGN	OMIM:300989
HP:0000316	Hypertelorism	63931	MRPS14	OMIM:618378
HP:0000316	Hypertelorism	3188	HNRNPH2	OMIM:300986
HP:0000316	Hypertelorism	4763	NF1	ORPHA:97685
HP:0000316	Hypertelorism	4763	NF1	ORPHA:363700
HP:0000316	Hypertelorism	4763	NF1	OMIM:193520
HP:0000316	Hypertelorism	4763	NF1	OMIM:601321
HP:0000316	Hypertelorism	4763	NF1	ORPHA:638
HP:0000316	Hypertelorism	4763	NF1	OMIM:162200
HP:0000316	Hypertelorism	55605	KIF21A	ORPHA:994
HP:0000316	Hypertelorism	4927	NUP88	ORPHA:994
HP:0000316	Hypertelorism	7846	TUBA1A	ORPHA:994
HP:0000316	Hypertelorism	4654	MYOD1	ORPHA:994
HP:0000316	Hypertelorism	54551	MAGEL2	ORPHA:994
HP:0000316	Hypertelorism	4593	MUSK	ORPHA:994
HP:0000316	Hypertelorism	4593	MUSK	OMIM:208150
HP:0000316	Hypertelorism	5913	RAPSN	ORPHA:994
HP:0000316	Hypertelorism	5913	RAPSN	OMIM:618388
HP:0000316	Hypertelorism	6572	SLC18A3	ORPHA:994
HP:0000316	Hypertelorism	285489	DOK7	ORPHA:994
HP:0000316	Hypertelorism	29957	SLC25A24	ORPHA:2095
HP:0000316	Hypertelorism	29957	SLC25A24	OMIM:612289
HP:0000316	Hypertelorism	8812	CCNK	OMIM:618147
HP:0000316	Hypertelorism	65250	CPLANE1	OMIM:277170
HP:0000316	Hypertelorism	65250	CPLANE1	ORPHA:2754
HP:0000316	Hypertelorism	134218	DNAJC21	OMIM:617052
HP:0000316	Hypertelorism	10526	IPO8	OMIM:619472
HP:0000316	Hypertelorism	10526	IPO8	ORPHA:60030
HP:0000316	Hypertelorism	348180	CTU2	OMIM:618142
HP:0000316	Hypertelorism	6711	SPTBN1	OMIM:619475
HP:0000316	Hypertelorism	3643	INSR	ORPHA:508
HP:0000316	Hypertelorism	673	BRAF	ORPHA:500
HP:0000316	Hypertelorism	673	BRAF	OMIM:613707
HP:0000316	Hypertelorism	673	BRAF	OMIM:613706
HP:0000316	Hypertelorism	673	BRAF	OMIM:115150
HP:0000316	Hypertelorism	673	BRAF	ORPHA:1340
HP:0000316	Hypertelorism	673	BRAF	OMIM:163950
HP:0000316	Hypertelorism	5894	RAF1	ORPHA:500
HP:0000316	Hypertelorism	5894	RAF1	ORPHA:648
HP:0000316	Hypertelorism	5894	RAF1	OMIM:611554
HP:0000316	Hypertelorism	5894	RAF1	OMIM:611553
HP:0000316	Hypertelorism	2317	FLNB	ORPHA:503
HP:0000316	Hypertelorism	2317	FLNB	OMIM:272460
HP:0000316	Hypertelorism	2317	FLNB	ORPHA:1190
HP:0000316	Hypertelorism	2317	FLNB	OMIM:108720
HP:0000316	Hypertelorism	2317	FLNB	OMIM:150250
HP:0000316	Hypertelorism	207	AKT1	ORPHA:744
HP:0000316	Hypertelorism	11198	SUPT16H	OMIM:619480
HP:0000316	Hypertelorism	11198	SUPT16H	ORPHA:261229
HP:0000316	Hypertelorism	1457	CSNK2A1	OMIM:617062
HP:0000316	Hypertelorism	7204	TRIO	OMIM:617061
HP:0000316	Hypertelorism	7204	TRIO	OMIM:618825
HP:0000316	Hypertelorism	5290	PIK3CA	OMIM:602501
HP:0000316	Hypertelorism	3636	INPPL1	OMIM:258480
HP:0000316	Hypertelorism	203068	TUBB	OMIM:156610
HP:0000316	Hypertelorism	6872	TAF1	OMIM:300966
HP:0000316	Hypertelorism	374879	ZNF699	OMIM:619488
HP:0000316	Hypertelorism	28952	CCDC22	OMIM:300963
HP:0000316	Hypertelorism	28952	CCDC22	ORPHA:7
HP:0000316	Hypertelorism	9508	ADAMTS3	OMIM:618154
HP:0000316	Hypertelorism	9508	ADAMTS3	ORPHA:2136
HP:0000316	Hypertelorism	1654	DDX3X	OMIM:300958
HP:0000316	Hypertelorism	2799	GNS	OMIM:252940
HP:0000316	Hypertelorism	50964	SOST	OMIM:122860
HP:0000316	Hypertelorism	50964	SOST	OMIM:269500
HP:0000316	Hypertelorism	23387	SIK3	OMIM:618162
HP:0000316	Hypertelorism	80267	EDEM3	OMIM:619493
HP:0000316	Hypertelorism	5295	PIK3R1	ORPHA:3163
HP:0000316	Hypertelorism	5295	PIK3R1	ORPHA:33110
HP:0000316	Hypertelorism	5745	PTH1R	OMIM:156400
HP:0000316	Hypertelorism	5745	PTH1R	OMIM:600002
HP:0000316	Hypertelorism	84231	TRAF7	OMIM:618164
HP:0000316	Hypertelorism	89970	RSPRY1	ORPHA:457395
HP:0000316	Hypertelorism	89970	RSPRY1	OMIM:616723
HP:0000316	Hypertelorism	51594	NBAS	OMIM:614800
HP:0000316	Hypertelorism	10020	GNE	ORPHA:3166
HP:0000316	Hypertelorism	10020	GNE	OMIM:269921
HP:0000316	Hypertelorism	84081	NSRP1	OMIM:620001
HP:0000316	Hypertelorism	55901	THSD1	OMIM:620244
HP:0000316	Hypertelorism	7474	WNT5A	OMIM:180700
HP:0000316	Hypertelorism	7474	WNT5A	ORPHA:3107
HP:0000316	Hypertelorism	9897	WASHC5	ORPHA:7
HP:0000316	Hypertelorism	9897	WASHC5	OMIM:220210
HP:0000316	Hypertelorism	57020	VPS35L	ORPHA:7
HP:0000316	Hypertelorism	57020	VPS35L	OMIM:619135
HP:0000316	Hypertelorism	84842	HPDL	OMIM:619026
HP:0000316	Hypertelorism	5077	PAX3	OMIM:122880
HP:0000316	Hypertelorism	5077	PAX3	ORPHA:1529
HP:0000316	Hypertelorism	5077	PAX3	OMIM:193500
HP:0000316	Hypertelorism	79693	YRDC	ORPHA:2065
HP:0000316	Hypertelorism	51002	TPRKB	ORPHA:2065
HP:0000316	Hypertelorism	51002	TPRKB	OMIM:617731
HP:0000316	Hypertelorism	84942	WDR73	ORPHA:2065
HP:0000316	Hypertelorism	84942	WDR73	OMIM:251300
HP:0000316	Hypertelorism	55644	OSGEP	ORPHA:2065
HP:0000316	Hypertelorism	55644	OSGEP	OMIM:617729
HP:0000316	Hypertelorism	57122	NUP107	ORPHA:2065
HP:0000316	Hypertelorism	10785	WDR4	ORPHA:2065
HP:0000316	Hypertelorism	55746	NUP133	ORPHA:2065
HP:0000316	Hypertelorism	112858	TP53RK	ORPHA:2065
HP:0000316	Hypertelorism	112858	TP53RK	OMIM:617730
HP:0000316	Hypertelorism	8270	LAGE3	ORPHA:2065
HP:0000316	Hypertelorism	7042	TGFB2	OMIM:614816
HP:0000316	Hypertelorism	7042	TGFB2	ORPHA:60030
HP:0000316	Hypertelorism	7042	TGFB2	ORPHA:91387
HP:0000316	Hypertelorism	25886	POC1A	OMIM:614813
HP:0000316	Hypertelorism	9898	UBAP2L	OMIM:620494
HP:0000316	Hypertelorism	283450	HECTD4	OMIM:620250
HP:0000316	Hypertelorism	8085	KMT2D	OMIM:147920
HP:0000316	Hypertelorism	8085	KMT2D	OMIM:620186
HP:0000316	Hypertelorism	7403	KDM6A	OMIM:147920
HP:0000316	Hypertelorism	168667	BMPER	OMIM:608022
HP:0000316	Hypertelorism	10682	EBP	ORPHA:401973
HP:0000316	Hypertelorism	10682	EBP	ORPHA:35173
HP:0000316	Hypertelorism	2294	FOXF1	OMIM:265380
HP:0000316	Hypertelorism	324	APC	ORPHA:261584
HP:0000316	Hypertelorism	324	APC	ORPHA:3258
HP:0000316	Hypertelorism	894	CCND2	ORPHA:83473
HP:0000316	Hypertelorism	5296	PIK3R2	ORPHA:83473
HP:0000316	Hypertelorism	10000	AKT3	ORPHA:83473
HP:0000316	Hypertelorism	5393	EXOSC9	OMIM:618065
HP:0000316	Hypertelorism	23241	PACS2	OMIM:618067
HP:0000316	Hypertelorism	161742	SPRED1	OMIM:611431
HP:0000316	Hypertelorism	5885	RAD21	OMIM:614701
HP:0000316	Hypertelorism	652	BMP4	ORPHA:828
HP:0000316	Hypertelorism	57539	WDR35	OMIM:613610
HP:0000316	Hypertelorism	9839	ZEB2	OMIM:235730
HP:0000316	Hypertelorism	9839	ZEB2	ORPHA:261552
HP:0000316	Hypertelorism	9839	ZEB2	ORPHA:261537
HP:0000316	Hypertelorism	80144	FRAS1	OMIM:219000
HP:0000316	Hypertelorism	80144	FRAS1	ORPHA:2052
HP:0000316	Hypertelorism	89910	UBE3B	OMIM:244450
HP:0000316	Hypertelorism	51506	UFC1	OMIM:618076
HP:0000316	Hypertelorism	2314	FLII	ORPHA:819
HP:0000316	Hypertelorism	23096	IQSEC2	ORPHA:819
HP:0000316	Hypertelorism	10743	RAI1	ORPHA:819
HP:0000316	Hypertelorism	10743	RAI1	ORPHA:1713
HP:0000316	Hypertelorism	10522	DEAF1	ORPHA:819
HP:0000316	Hypertelorism	1717	DHCR7	ORPHA:818
HP:0000316	Hypertelorism	1717	DHCR7	OMIM:270400
HP:0000316	Hypertelorism	29072	SETD2	OMIM:620157
HP:0000316	Hypertelorism	29072	SETD2	OMIM:620155
HP:0000316	Hypertelorism	55780	ERMARD	ORPHA:75857
HP:0000316	Hypertelorism	9382	COG1	OMIM:611209
HP:0000316	Hypertelorism	9382	COG1	ORPHA:263508
HP:0000316	Hypertelorism	4038	LRP4	ORPHA:3258
HP:0000316	Hypertelorism	4038	LRP4	OMIM:614305
HP:0000316	Hypertelorism	4038	LRP4	OMIM:212780
HP:0000316	Hypertelorism	6197	RPS6KA3	OMIM:303600
HP:0000316	Hypertelorism	6197	RPS6KA3	ORPHA:192
HP:0000316	Hypertelorism	6197	RPS6KA3	ORPHA:276630
HP:0000316	Hypertelorism	1185	CLCN6	OMIM:619173
HP:0000316	Hypertelorism	56992	KIF15	ORPHA:261323
HP:0000316	Hypertelorism	84992	PIGY	ORPHA:247262
HP:0000316	Hypertelorism	84720	PIGO	ORPHA:247262
HP:0000316	Hypertelorism	84720	PIGO	OMIM:614749
HP:0000316	Hypertelorism	93210	PGAP3	ORPHA:247262
HP:0000316	Hypertelorism	93210	PGAP3	OMIM:615716
HP:0000316	Hypertelorism	284098	PIGW	ORPHA:247262
HP:0000316	Hypertelorism	27315	PGAP2	ORPHA:247262
HP:0000316	Hypertelorism	27315	PGAP2	OMIM:614207
HP:0000316	Hypertelorism	9487	PIGL	ORPHA:247262
HP:0000316	Hypertelorism	9487	PIGL	ORPHA:3474
HP:0000316	Hypertelorism	9487	PIGL	OMIM:280000
HP:0000316	Hypertelorism	4001	LMNB1	OMIM:619179
HP:0000316	Hypertelorism	64324	NSD1	OMIM:117550
HP:0000316	Hypertelorism	64324	NSD1	ORPHA:3447
HP:0000316	Hypertelorism	8913	CACNA1G	OMIM:618087
HP:0000316	Hypertelorism	80204	FBXO11	OMIM:618089
HP:0000316	Hypertelorism	1272	CNTN1	OMIM:612540
HP:0000316	Hypertelorism	1801	DPH1	OMIM:616901
HP:0000316	Hypertelorism	1801	DPH1	ORPHA:459061
HP:0000316	Hypertelorism	93627	TBCK	OMIM:616900
HP:0000316	Hypertelorism	672	BRCA1	ORPHA:84
HP:0000316	Hypertelorism	672	BRCA1	OMIM:617883
HP:0000316	Hypertelorism	10459	MAD2L2	ORPHA:84
HP:0000316	Hypertelorism	7516	XRCC2	ORPHA:84
HP:0000316	Hypertelorism	29089	UBE2T	ORPHA:84
HP:0000316	Hypertelorism	675	BRCA2	ORPHA:84
HP:0000316	Hypertelorism	55120	FANCL	ORPHA:84
HP:0000316	Hypertelorism	55120	FANCL	OMIM:614083
HP:0000316	Hypertelorism	2177	FANCD2	ORPHA:84
HP:0000316	Hypertelorism	2177	FANCD2	OMIM:227646
HP:0000316	Hypertelorism	2175	FANCA	ORPHA:84
HP:0000316	Hypertelorism	2187	FANCB	ORPHA:84
HP:0000316	Hypertelorism	2176	FANCC	ORPHA:84
HP:0000316	Hypertelorism	2178	FANCE	ORPHA:84
HP:0000316	Hypertelorism	2188	FANCF	ORPHA:84
HP:0000316	Hypertelorism	2189	FANCG	ORPHA:84
HP:0000316	Hypertelorism	5888	RAD51	ORPHA:84
HP:0000316	Hypertelorism	5889	RAD51C	ORPHA:84
HP:0000316	Hypertelorism	55159	RFWD3	ORPHA:84
HP:0000316	Hypertelorism	83990	BRIP1	ORPHA:84
HP:0000316	Hypertelorism	57697	FANCM	ORPHA:84
HP:0000316	Hypertelorism	84464	SLX4	ORPHA:84
HP:0000316	Hypertelorism	2072	ERCC4	ORPHA:84
HP:0000316	Hypertelorism	55215	FANCI	ORPHA:84
HP:0000316	Hypertelorism	546	ATRX	ORPHA:847
HP:0000316	Hypertelorism	546	ATRX	OMIM:309580
HP:0000316	Hypertelorism	546	ATRX	OMIM:301040
HP:0000316	Hypertelorism	23116	TOGARAM1	OMIM:619185
HP:0000316	Hypertelorism	57531	HACE1	ORPHA:464282
HP:0000316	Hypertelorism	9896	FIG4	ORPHA:3472
HP:0000316	Hypertelorism	9896	FIG4	OMIM:216340
HP:0000316	Hypertelorism	55697	VAC14	ORPHA:3472
HP:0000316	Hypertelorism	6999	TDO2	OMIM:600627
HP:0000316	Hypertelorism	23036	ZNF292	OMIM:619188
HP:0000316	Hypertelorism	55148	UBR7	OMIM:619189
HP:0000316	Hypertelorism	23545	ATP6V0A2	OMIM:278250
HP:0000316	Hypertelorism	23545	ATP6V0A2	ORPHA:2834
HP:0000316	Hypertelorism	23545	ATP6V0A2	ORPHA:357074
HP:0000316	Hypertelorism	1954	MEGF8	OMIM:614976
HP:0000316	Hypertelorism	1954	MEGF8	ORPHA:65759
HP:0000316	Hypertelorism	3070	HELLS	OMIM:616911
HP:0000316	Hypertelorism	3070	HELLS	ORPHA:2268
HP:0000316	Hypertelorism	4036	LRP2	ORPHA:2143
HP:0000316	Hypertelorism	4036	LRP2	OMIM:222448
HP:0000316	Hypertelorism	83879	CDCA7	OMIM:616910
HP:0000316	Hypertelorism	83879	CDCA7	ORPHA:2268
HP:0000316	Hypertelorism	25942	SIN3A	OMIM:613406
HP:0000316	Hypertelorism	25942	SIN3A	ORPHA:94065
HP:0000316	Hypertelorism	79053	ALG8	OMIM:608104
HP:0000316	Hypertelorism	79053	ALG8	ORPHA:79325
HP:0000316	Hypertelorism	526	ATP6V1B2	ORPHA:3473
HP:0000316	Hypertelorism	526	ATP6V1B2	ORPHA:79500
HP:0000316	Hypertelorism	3756	KCNH1	ORPHA:3473
HP:0000316	Hypertelorism	3756	KCNH1	OMIM:611816
HP:0000316	Hypertelorism	3756	KCNH1	ORPHA:420561
HP:0000316	Hypertelorism	3782	KCNN3	ORPHA:3473
HP:0000316	Hypertelorism	3425	IDUA	OMIM:607014
HP:0000316	Hypertelorism	175	AGA	ORPHA:93
HP:0000316	Hypertelorism	10815	CPLX1	OMIM:194190
HP:0000316	Hypertelorism	10815	CPLX1	ORPHA:280
HP:0000316	Hypertelorism	10815	CPLX1	OMIM:617976
HP:0000316	Hypertelorism	1487	CTBP1	OMIM:194190
HP:0000316	Hypertelorism	1487	CTBP1	ORPHA:280
HP:0000316	Hypertelorism	53834	FGFRL1	OMIM:194190
HP:0000316	Hypertelorism	3954	LETM1	OMIM:194190
HP:0000316	Hypertelorism	3954	LETM1	ORPHA:280
HP:0000316	Hypertelorism	54496	PRMT7	ORPHA:464288
HP:0000316	Hypertelorism	54496	PRMT7	OMIM:617157
HP:0000316	Hypertelorism	3192	HNRNPU	ORPHA:238769
HP:0000316	Hypertelorism	9653	HS2ST1	OMIM:619194
HP:0000316	Hypertelorism	5447	POR	OMIM:201750
HP:0000316	Hypertelorism	57217	TTC7A	OMIM:243150
HP:0000316	Hypertelorism	56006	SMG9	OMIM:616920
HP:0000316	Hypertelorism	64327	LMBR1	ORPHA:2378
HP:0000316	Hypertelorism	147372	CCBE1	ORPHA:2136
HP:0000316	Hypertelorism	147372	CCBE1	OMIM:235510
HP:0000316	Hypertelorism	26053	AUTS2	OMIM:615834
HP:0000316	Hypertelorism	26053	AUTS2	ORPHA:352490
HP:0000316	Hypertelorism	54499	TMCO1	OMIM:213980
HP:0000316	Hypertelorism	54499	TMCO1	ORPHA:1394
HP:0000316	Hypertelorism	11128	POLR3A	OMIM:264090
HP:0000316	Hypertelorism	11128	POLR3A	ORPHA:3455
HP:0000316	Hypertelorism	3675	ITGA3	OMIM:614748
HP:0000316	Hypertelorism	10907	TXNL4A	OMIM:608572
HP:0000316	Hypertelorism	10907	TXNL4A	ORPHA:1200
HP:0000316	Hypertelorism	8050	PDHX	OMIM:245349
HP:0000316	Hypertelorism	4094	MAF	ORPHA:1272
HP:0000316	Hypertelorism	4094	MAF	OMIM:601088
HP:0000316	Hypertelorism	23522	KAT6B	ORPHA:85201
HP:0000316	Hypertelorism	23261	CAMTA1	OMIM:614756
HP:0000316	Hypertelorism	8481	OFD1	OMIM:311200
HP:0000316	Hypertelorism	8481	OFD1	ORPHA:2750
HP:0000316	Hypertelorism	8481	OFD1	ORPHA:2754
HP:0000316	Hypertelorism	182	JAG1	OMIM:118450
HP:0000316	Hypertelorism	10472	ZBTB18	OMIM:612337
HP:0000316	Hypertelorism	10472	ZBTB18	ORPHA:36367
HP:0000316	Hypertelorism	1482	NKX2-5	OMIM:217095
HP:0000316	Hypertelorism	137814	NKX2-6	OMIM:217095
HP:0000316	Hypertelorism	2627	GATA6	OMIM:217095
HP:0000316	Hypertelorism	55343	SLC35C1	ORPHA:99843
HP:0000316	Hypertelorism	2535	FZD2	OMIM:164745
HP:0000316	Hypertelorism	2535	FZD2	ORPHA:3107
HP:0000316	Hypertelorism	2535	FZD2	ORPHA:93328
HP:0000316	Hypertelorism	8813	DPM1	OMIM:608799
HP:0000316	Hypertelorism	8813	DPM1	ORPHA:79322
HP:0000316	Hypertelorism	6905	TBCE	OMIM:244460
HP:0000316	Hypertelorism	6905	TBCE	ORPHA:93324
HP:0000316	Hypertelorism	9652	SKIC3	OMIM:222470
HP:0000316	Hypertelorism	9652	SKIC3	ORPHA:84064
HP:0000316	Hypertelorism	27086	FOXP1	OMIM:613670
HP:0000316	Hypertelorism	27086	FOXP1	ORPHA:391372
HP:0000316	Hypertelorism	6611	SMS	OMIM:309583
HP:0000316	Hypertelorism	6611	SMS	ORPHA:3063
HP:0000316	Hypertelorism	2146	EZH2	OMIM:277590
HP:0000316	Hypertelorism	2146	EZH2	ORPHA:3447
HP:0000316	Hypertelorism	7048	TGFBR2	OMIM:610168
HP:0000316	Hypertelorism	7048	TGFBR2	ORPHA:60030
HP:0000316	Hypertelorism	7048	TGFBR2	ORPHA:91387
HP:0000316	Hypertelorism	22856	CHSY1	OMIM:605282
HP:0000316	Hypertelorism	6509	SLC1A4	ORPHA:447997
HP:0000316	Hypertelorism	701	BUB1B	OMIM:257300
HP:0000316	Hypertelorism	7546	ZIC2	OMIM:609637
HP:0000316	Hypertelorism	55023	PHIP	ORPHA:589905
HP:0000316	Hypertelorism	55023	PHIP	OMIM:617991
HP:0000316	Hypertelorism	29123	ANKRD11	OMIM:148050
HP:0000316	Hypertelorism	29123	ANKRD11	ORPHA:2332
HP:0000316	Hypertelorism	91252	SLC39A13	OMIM:612350
HP:0000316	Hypertelorism	4208	MEF2C	OMIM:613443
HP:0000316	Hypertelorism	7319	UBE2A	ORPHA:163956
HP:0000316	Hypertelorism	7319	UBE2A	OMIM:300860
HP:0000316	Hypertelorism	57724	EPG5	ORPHA:1493
HP:0000316	Hypertelorism	57724	EPG5	OMIM:242840
HP:0000316	Hypertelorism	56052	ALG1	OMIM:608540
HP:0000316	Hypertelorism	10075	HUWE1	OMIM:309590
HP:0000316	Hypertelorism	2245	FGD1	OMIM:305400
HP:0000316	Hypertelorism	2245	FGD1	ORPHA:915
HP:0000316	Hypertelorism	5648	MASP1	OMIM:257920
HP:0000316	Hypertelorism	5648	MASP1	ORPHA:293843
HP:0000316	Hypertelorism	132	ADK	OMIM:614300
HP:0000316	Hypertelorism	2733	GLE1	ORPHA:1486
HP:0000316	Hypertelorism	23394	ADNP	OMIM:615873
HP:0000316	Hypertelorism	11133	KPTN	OMIM:615637
HP:0000316	Hypertelorism	8092	ALX1	OMIM:613456
HP:0000316	Hypertelorism	8092	ALX1	ORPHA:306542
HP:0000316	Hypertelorism	79796	ALG9	OMIM:608776
HP:0000316	Hypertelorism	79796	ALG9	ORPHA:79328
HP:0000316	Hypertelorism	79796	ALG9	OMIM:263210
HP:0000316	Hypertelorism	79650	USB1	OMIM:604173
HP:0000316	Hypertelorism	55593	OTUD5	OMIM:301056
HP:0000316	Hypertelorism	4854	NOTCH3	OMIM:130720
HP:0000316	Hypertelorism	4854	NOTCH3	ORPHA:2789
HP:0000316	Hypertelorism	84162	BLTP1	OMIM:617822
HP:0000316	Hypertelorism	473	RERE	OMIM:616975
HP:0000316	Hypertelorism	4893	NRAS	OMIM:613224
HP:0000316	Hypertelorism	4893	NRAS	OMIM:137550
HP:0000316	Hypertelorism	4893	NRAS	ORPHA:648
HP:0000316	Hypertelorism	998	CDC42	OMIM:616737
HP:0000316	Hypertelorism	998	CDC42	ORPHA:487796
HP:0000316	Hypertelorism	79644	SRD5A3	OMIM:612379
HP:0000316	Hypertelorism	117581	TWIST2	ORPHA:1231
HP:0000316	Hypertelorism	117581	TWIST2	OMIM:209885
HP:0000316	Hypertelorism	117581	TWIST2	OMIM:200110
HP:0000316	Hypertelorism	3097	HIVEP2	OMIM:616977
HP:0000316	Hypertelorism	10982	MAPRE2	OMIM:616734
HP:0000316	Hypertelorism	23097	CDK19	OMIM:618916
HP:0000316	Hypertelorism	7547	ZIC3	OMIM:306955
HP:0000316	Hypertelorism	63035	BCORL1	OMIM:301029
HP:0000316	Hypertelorism	57211	ADGRG6	OMIM:616503
HP:0000316	Hypertelorism	3759	KCNJ2	OMIM:170390
HP:0000316	Hypertelorism	3759	KCNJ2	ORPHA:37553
HP:0000316	Hypertelorism	157570	ESCO2	ORPHA:2319
HP:0000316	Hypertelorism	157570	ESCO2	OMIM:216100
HP:0000316	Hypertelorism	157570	ESCO2	ORPHA:3103
HP:0000316	Hypertelorism	157570	ESCO2	OMIM:268300
HP:0000316	Hypertelorism	1000	CDH2	OMIM:618929
HP:0000316	Hypertelorism	60	ACTB	ORPHA:79107
HP:0000316	Hypertelorism	60	ACTB	OMIM:243310
HP:0000316	Hypertelorism	60	ACTB	ORPHA:2995
HP:0000316	Hypertelorism	23028	KDM1A	ORPHA:477993
HP:0000316	Hypertelorism	83696	TRAPPC9	ORPHA:352530
HP:0000316	Hypertelorism	83696	TRAPPC9	OMIM:613192
HP:0000316	Hypertelorism	860	RUNX2	ORPHA:1452
HP:0000316	Hypertelorism	860	RUNX2	OMIM:119600
HP:0000316	Hypertelorism	6638	SNRPN	ORPHA:177907
HP:0000316	Hypertelorism	2313	FLI1	ORPHA:2308
HP:0000316	Hypertelorism	10664	CTCF	ORPHA:363611
HP:0000316	Hypertelorism	10664	CTCF	OMIM:615502
HP:0000316	Hypertelorism	71	ACTG1	OMIM:614583
HP:0000316	Hypertelorism	71	ACTG1	ORPHA:2995
HP:0000316	Hypertelorism	10367	MICU1	OMIM:615673
HP:0000316	Hypertelorism	2517	FUCA1	OMIM:230000
HP:0000316	Hypertelorism	25885	POLR1A	ORPHA:1200
HP:0000316	Hypertelorism	25885	POLR1A	OMIM:616462
HP:0000316	Hypertelorism	9894	TELO2	ORPHA:488642
HP:0000316	Hypertelorism	80232	WDR26	OMIM:617616
HP:0000316	Hypertelorism	4329	ALDH6A1	OMIM:614105
HP:0000316	Hypertelorism	3265	HRAS	OMIM:137550
HP:0000316	Hypertelorism	3265	HRAS	OMIM:218040
HP:0000316	Hypertelorism	23556	PIGN	ORPHA:280633
HP:0000316	Hypertelorism	23556	PIGN	OMIM:614080
HP:0000316	Hypertelorism	23556	PIGN	ORPHA:2059
HP:0000316	Hypertelorism	55617	TASP1	OMIM:618950
HP:0000316	Hypertelorism	112752	IFT43	OMIM:617866
HP:0000316	Hypertelorism	92335	STRADA	OMIM:611087
HP:0000316	Hypertelorism	1806	DPYD	ORPHA:1675
HP:0000316	Hypertelorism	113246	C12orf57	OMIM:218340
HP:0000316	Hypertelorism	139285	AMER1	OMIM:300373
HP:0000316	Hypertelorism	54888	NSUN2	OMIM:611091
HP:0000316	Hypertelorism	54888	NSUN2	ORPHA:235
HP:0000316	Hypertelorism	5331	PLCB3	OMIM:618961
HP:0000316	Hypertelorism	153241	CEP120	OMIM:616300
HP:0000316	Hypertelorism	23247	KATNIP	OMIM:616784
HP:0000316	Hypertelorism	1748	DLX4	OMIM:616788
HP:0000316	Hypertelorism	4000	LMNA	ORPHA:1662
HP:0000316	Hypertelorism	10269	ZMPSTE24	ORPHA:1662
HP:0000316	Hypertelorism	10269	ZMPSTE24	OMIM:275210
HP:0000316	Hypertelorism	23389	MED13L	OMIM:616789
HP:0000316	Hypertelorism	23389	MED13L	ORPHA:369891
HP:0000316	Hypertelorism	4621	MYH3	ORPHA:2990
HP:0000316	Hypertelorism	4621	MYH3	OMIM:193700
HP:0000316	Hypertelorism	4621	MYH3	ORPHA:2053
HP:0000316	Hypertelorism	1146	CHRNG	ORPHA:2990
HP:0000316	Hypertelorism	1146	CHRNG	OMIM:265000
HP:0000316	Hypertelorism	1146	CHRNG	OMIM:253290
HP:0000316	Hypertelorism	3778	KCNMA1	OMIM:618729
HP:0000316	Hypertelorism	10210	TOPORS	ORPHA:2754
HP:0000316	Hypertelorism	9851	KIAA0753	ORPHA:2754
HP:0000316	Hypertelorism	9851	KIAA0753	OMIM:617127
HP:0000316	Hypertelorism	5147	PDE6D	ORPHA:2754
HP:0000316	Hypertelorism	317662	FAM149B1	ORPHA:2754
HP:0000316	Hypertelorism	11141	IL1RAPL1	OMIM:300143
HP:0000316	Hypertelorism	55553	SOX6	OMIM:618971
HP:0000316	Hypertelorism	57647	DHX37	OMIM:618731
HP:0000316	Hypertelorism	10736	SIX2	ORPHA:488437
HP:0000316	Hypertelorism	79875	THSD4	OMIM:619825
HP:0000316	Hypertelorism	79875	THSD4	ORPHA:91387
HP:0000316	Hypertelorism	4281	MID1	ORPHA:2745
HP:0000316	Hypertelorism	4281	MID1	OMIM:300000
HP:0000316	Hypertelorism	523	ATP6V1A	OMIM:617403
HP:0000316	Hypertelorism	523	ATP6V1A	ORPHA:357074
HP:0000316	Hypertelorism	529	ATP6V1E1	OMIM:617402
HP:0000316	Hypertelorism	529	ATP6V1E1	ORPHA:357074
HP:0000316	Hypertelorism	6655	SOS2	OMIM:616559
HP:0000316	Hypertelorism	6655	SOS2	ORPHA:648
HP:0000316	Hypertelorism	6929	TCF3	OMIM:619824
HP:0000316	Hypertelorism	6929	TCF3	ORPHA:33110
HP:0000316	Hypertelorism	1278	COL1A2	ORPHA:1899
HP:0000316	Hypertelorism	1277	COL1A1	ORPHA:1899
HP:0000316	Hypertelorism	3762	KCNJ5	ORPHA:37553
HP:0000316	Hypertelorism	11253	MAN1B1	ORPHA:397941
HP:0000316	Hypertelorism	11253	MAN1B1	OMIM:614202
HP:0000316	Hypertelorism	10617	STAMBP	OMIM:614261
HP:0000316	Hypertelorism	8294	H4C9	OMIM:619951
HP:0000316	Hypertelorism	50651	SLC45A1	OMIM:617532
HP:0000316	Hypertelorism	9853	RUSC2	OMIM:617773
HP:0000316	Hypertelorism	56172	ANKH	ORPHA:1522
HP:0000316	Hypertelorism	56172	ANKH	OMIM:123000
HP:0000316	Hypertelorism	8425	LTBP4	OMIM:613177
HP:0000316	Hypertelorism	6016	RIT1	OMIM:615355
HP:0000316	Hypertelorism	6016	RIT1	ORPHA:648
HP:0000316	Hypertelorism	1947	EFNB1	ORPHA:1520
HP:0000316	Hypertelorism	1947	EFNB1	OMIM:304110
HP:0000316	Hypertelorism	10973	ASCC3	OMIM:620700
HP:0000316	Hypertelorism	5830	PEX5	OMIM:214110
HP:0000316	Hypertelorism	9786	KIAA0586	ORPHA:397715
HP:0000316	Hypertelorism	65267	WNK3	OMIM:309610
HP:0000316	Hypertelorism	116931	MED12L	OMIM:618872
HP:0000316	Hypertelorism	3020	H3-3A	OMIM:619720
HP:0000316	Hypertelorism	5728	PTEN	ORPHA:210548
HP:0000316	Hypertelorism	5728	PTEN	ORPHA:79076
HP:0000316	Hypertelorism	220296	HEPACAM	ORPHA:210548
HP:0000316	Hypertelorism	79639	TMEM53	OMIM:619727
HP:0000316	Hypertelorism	23384	SPECC1L	ORPHA:1519
HP:0000316	Hypertelorism	23384	SPECC1L	OMIM:145420
HP:0000316	Hypertelorism	5189	PEX1	OMIM:214100
HP:0000316	Hypertelorism	999	CDH1	ORPHA:1997
HP:0000316	Hypertelorism	999	CDH1	OMIM:119580
HP:0000316	Hypertelorism	2590	GALNT2	OMIM:618885
HP:0000316	Hypertelorism	10584	COLEC10	OMIM:248340
HP:0000316	Hypertelorism	10584	COLEC10	ORPHA:293843
HP:0000316	Hypertelorism	55870	ASH1L	OMIM:617796
HP:0000316	Hypertelorism	9698	PUM1	OMIM:620719
HP:0000316	Hypertelorism	83871	RAB34	OMIM:620718
HP:0000316	Hypertelorism	9469	CHST3	OMIM:143095
HP:0000316	Hypertelorism	9469	CHST3	ORPHA:263463
HP:0000316	Hypertelorism	9469	CHST3	OMIM:245600
HP:0000316	Hypertelorism	9692	PRORP	OMIM:619737
HP:0000316	Hypertelorism	4853	NOTCH2	OMIM:102500
HP:0000316	Hypertelorism	4853	NOTCH2	ORPHA:955
HP:0000316	Hypertelorism	51319	RSRC1	OMIM:618402
HP:0000316	Hypertelorism	79184	BRCC3	ORPHA:280679
HP:0000316	Hypertelorism	4920	ROR2	ORPHA:1507
HP:0000316	Hypertelorism	4920	ROR2	OMIM:268310
HP:0000316	Hypertelorism	7020	TFAP2A	OMIM:113620
HP:0000316	Hypertelorism	1281	COL3A1	ORPHA:286
HP:0000316	Hypertelorism	8726	EED	OMIM:617561
HP:0000316	Hypertelorism	54872	PIGG	ORPHA:280
HP:0000316	Hypertelorism	54872	PIGG	ORPHA:488635
HP:0000316	Hypertelorism	7469	NELFA	ORPHA:280
HP:0000316	Hypertelorism	283987	HID1	OMIM:619983
HP:0000316	Hypertelorism	22884	WDR37	OMIM:618652
HP:0000316	Hypertelorism	1656	DDX6	OMIM:618653
HP:0000316	Hypertelorism	1501	CTNND2	ORPHA:281
HP:0000316	Hypertelorism	9037	SEMA5A	ORPHA:281
HP:0000316	Hypertelorism	4297	KMT2A	ORPHA:319182
HP:0000316	Hypertelorism	4297	KMT2A	OMIM:605130
HP:0000316	Hypertelorism	55714	TENM3	OMIM:615145
HP:0000316	Hypertelorism	57178	ZMIZ1	OMIM:618659
HP:0000316	Hypertelorism	200734	SPRED2	OMIM:619745
HP:0000316	Hypertelorism	200734	SPRED2	ORPHA:648
HP:0000316	Hypertelorism	64132	XYLT2	ORPHA:85194
HP:0000316	Hypertelorism	55623	THUMPD1	OMIM:619989
HP:0000316	Hypertelorism	8241	RBM10	OMIM:311900
HP:0000316	Hypertelorism	8241	RBM10	ORPHA:2886
HP:0000316	Hypertelorism	1789	DNMT3B	OMIM:242860
HP:0000316	Hypertelorism	1789	DNMT3B	ORPHA:2268
HP:0000316	Hypertelorism	3981	LIG4	ORPHA:235
HP:0000316	Hypertelorism	253738	EBF3	OMIM:617330
HP:0000316	Hypertelorism	1182	CLCN3	OMIM:619512
HP:0000316	Hypertelorism	85301	COL27A1	OMIM:615155
HP:0000316	Hypertelorism	11154	AP4S1	OMIM:614067
HP:0000316	Hypertelorism	7862	BRPF1	OMIM:617333
HP:0000316	Hypertelorism	3572	IL6ST	OMIM:619750
HP:0000316	Hypertelorism	8363	H4C11	OMIM:619759
HP:0000316	Hypertelorism	4613	MYCN	OMIM:620748
HP:0000316	Hypertelorism	5048	PAFAH1B1	ORPHA:217385
HP:0000316	Hypertelorism	7531	YWHAE	ORPHA:217385
HP:0000316	Hypertelorism	9681	DEPDC5	OMIM:620504
HP:0000316	Hypertelorism	1660	DHX9	OMIM:620988
HP:0000316	Hypertelorism	9841	ZBTB24	OMIM:614069
HP:0000316	Hypertelorism	9841	ZBTB24	ORPHA:2268
HP:0000316	Hypertelorism	8364	H4C3	OMIM:619758
HP:0000316	Hypertelorism	286	ANK1	ORPHA:251066
HP:0000316	Hypertelorism	93986	FOXP2	ORPHA:251061
HP:0000316	Hypertelorism	4247	MGAT2	ORPHA:79329
HP:0000316	Hypertelorism	26137	ZBTB20	OMIM:259050
HP:0000316	Hypertelorism	7750	ZMYM2	OMIM:619522
HP:0000316	Hypertelorism	8733	GPAA1	ORPHA:529665
HP:0000316	Hypertelorism	4849	CNOT3	OMIM:618672
HP:0000316	Hypertelorism	9158	FIBP	OMIM:617107
HP:0000316	Hypertelorism	9158	FIBP	ORPHA:500095
HP:0000316	Hypertelorism	2542	SLC37A4	OMIM:619525
HP:0000316	Hypertelorism	25973	PARS2	OMIM:618437
HP:0000316	Hypertelorism	57492	ARID1B	ORPHA:251056
HP:0000316	Hypertelorism	57492	ARID1B	OMIM:135900
HP:0000316	Hypertelorism	51163	DBR1	OMIM:620510
HP:0000316	Hypertelorism	2683	B4GALT1	ORPHA:79332
HP:0000316	Hypertelorism	5354	PLP1	ORPHA:280229
HP:0000316	Hypertelorism	2271	FH	OMIM:606812
HP:0000316	Hypertelorism	5373	PMM2	ORPHA:79318
HP:0000316	Hypertelorism	7030	TFE3	OMIM:301066
HP:0000316	Hypertelorism	51651	PTRH2	OMIM:616263
HP:0000316	Hypertelorism	51651	PTRH2	ORPHA:456312
HP:0000316	Hypertelorism	23162	MAPK8IP3	OMIM:618443
HP:0000316	Hypertelorism	4123	MAN2C1	OMIM:619775
HP:0000316	Hypertelorism	79989	IFT56	OMIM:619534
HP:0000316	Hypertelorism	1107	CHD3	OMIM:618205
HP:0000316	Hypertelorism	6261	RYR1	ORPHA:324581
HP:0000316	Hypertelorism	6261	RYR1	OMIM:619542
HP:0000316	Hypertelorism	404672	GTF2H5	ORPHA:33364
HP:0000316	Hypertelorism	833	CARS1	ORPHA:33364
HP:0000316	Hypertelorism	2068	ERCC2	ORPHA:33364
HP:0000316	Hypertelorism	7737	RNF113A	ORPHA:33364
HP:0000316	Hypertelorism	136647	MPLKIP	ORPHA:33364
HP:0000316	Hypertelorism	6897	TARS1	ORPHA:33364
HP:0000316	Hypertelorism	16	AARS1	ORPHA:33364
HP:0000316	Hypertelorism	2071	ERCC3	ORPHA:33364
HP:0000316	Hypertelorism	2961	GTF2E2	ORPHA:33364
HP:0000316	Hypertelorism	29929	ALG6	ORPHA:79320
HP:0000316	Hypertelorism	8295	TRRAP	OMIM:618454
HP:0000316	Hypertelorism	8621	CDK13	OMIM:617360
HP:0000316	Hypertelorism	29968	PSAT1	OMIM:616038
HP:0000316	Hypertelorism	29968	PSAT1	ORPHA:284417
HP:0000316	Hypertelorism	164	AP1G1	OMIM:619548
HP:0000316	Hypertelorism	55770	EXOC2	OMIM:619306
HP:0000316	Hypertelorism	27145	FILIP1	OMIM:620775
HP:0000316	Hypertelorism	6654	SOS1	OMIM:610733
HP:0000316	Hypertelorism	6654	SOS1	ORPHA:648
HP:0000316	Hypertelorism	140679	SLC32A1	OMIM:620774
HP:0000316	Hypertelorism	1802	DPH2	ORPHA:459061
HP:0000316	Hypertelorism	7922	SLC39A7	ORPHA:33110
HP:0000316	Hypertelorism	973	CD79A	ORPHA:33110
HP:0000316	Hypertelorism	974	CD79B	ORPHA:33110
HP:0000316	Hypertelorism	6688	SPI1	ORPHA:33110
HP:0000316	Hypertelorism	3543	IGLL1	ORPHA:33110
HP:0000316	Hypertelorism	3507	IGHM	ORPHA:33110
HP:0000316	Hypertelorism	29760	BLNK	ORPHA:33110
HP:0000316	Hypertelorism	56262	LRRC8A	ORPHA:33110
HP:0000316	Hypertelorism	56262	LRRC8A	OMIM:613506
HP:0000316	Hypertelorism	81848	SPRY4	ORPHA:432
HP:0000316	Hypertelorism	128674	PROKR2	ORPHA:432
HP:0000316	Hypertelorism	2253	FGF8	ORPHA:432
HP:0000316	Hypertelorism	60675	PROK2	ORPHA:432
HP:0000316	Hypertelorism	6870	TACR3	ORPHA:432
HP:0000316	Hypertelorism	1848	DUSP6	ORPHA:432
HP:0000316	Hypertelorism	26012	NSMF	ORPHA:432
HP:0000316	Hypertelorism	55717	WDR11	ORPHA:432
HP:0000316	Hypertelorism	4808	NHLH2	ORPHA:432
HP:0000316	Hypertelorism	9394	HS6ST1	ORPHA:432
HP:0000316	Hypertelorism	2796	GNRH1	ORPHA:432
HP:0000316	Hypertelorism	2798	GNRHR	ORPHA:432
HP:0000316	Hypertelorism	84634	KISS1R	ORPHA:432
HP:0000316	Hypertelorism	6866	TAC3	ORPHA:432
HP:0000316	Hypertelorism	8822	FGF17	ORPHA:432
HP:0000316	Hypertelorism	3814	KISS1	ORPHA:432
HP:0000316	Hypertelorism	6909	TBX2	OMIM:618223
HP:0000316	Hypertelorism	23013	SPEN	OMIM:619312
HP:0000316	Hypertelorism	9759	HDAC4	OMIM:619797
HP:0000316	Hypertelorism	6477	SIAH1	OMIM:619314
HP:0000316	Hypertelorism	83548	COG3	OMIM:620546
HP:0000316	Hypertelorism	6323	SCN1A	OMIM:619317
HP:0000316	Hypertelorism	100151683	RNU4ATAC	ORPHA:353298
HP:0000316	Hypertelorism	170689	ADAMTS15	OMIM:620545
HP:0000316	Hypertelorism	4076	CAPRIN1	OMIM:620782
HP:0000316	Hypertelorism	51412	ACTL6B	OMIM:618470
HP:0000316	Hypertelorism	5631	PRPS1	ORPHA:423479
HP:0000316	Hypertelorism	55869	HDAC8	OMIM:300882
HP:0000316	Hypertelorism	1349	COX7B	OMIM:300887
HP:0000316	Hypertelorism	650	BMP2	ORPHA:261295
HP:0000316	Hypertelorism	9871	SEC24D	OMIM:616294
HP:0000316	Hypertelorism	29998	BICRA	OMIM:619325
HP:0000316	Hypertelorism	9342	SNAP29	ORPHA:66631
HP:0000316	Hypertelorism	9342	SNAP29	OMIM:609528
HP:0000316	Hypertelorism	8312	AXIN1	OMIM:620558
HP:0000316	Hypertelorism	2033	EP300	ORPHA:353284
HP:0000316	Hypertelorism	2033	EP300	OMIM:180849
HP:0000316	Hypertelorism	26128	KIFBP	ORPHA:66629
HP:0000316	Hypertelorism	2710	GK	OMIM:307030
HP:0000316	Hypertelorism	6904	TBCD	ORPHA:496641
HP:0000316	Hypertelorism	6904	TBCD	OMIM:617193
HP:0000316	Hypertelorism	83999	KREMEN1	OMIM:617392
HP:0000316	Hypertelorism	57551	TAOK1	OMIM:619575
HP:0000316	Hypertelorism	50619	DEF6	OMIM:619573
HP:0000316	Hypertelorism	8260	NAA10	OMIM:300855
HP:0000316	Hypertelorism	1108	CHD4	OMIM:617159
HP:0000316	Hypertelorism	5831	PYCR1	OMIM:612940
HP:0000316	Hypertelorism	5831	PYCR1	OMIM:614438
HP:0000316	Hypertelorism	23476	BRD4	OMIM:620568
HP:0000316	Hypertelorism	29920	PYCR2	ORPHA:481152
HP:0000316	Hypertelorism	9969	MED13	OMIM:618009
HP:0000316	Hypertelorism	1280	COL2A1	ORPHA:94068
HP:0000316	Hypertelorism	1280	COL2A1	ORPHA:93346
HP:0000316	Hypertelorism	92344	GORAB	OMIM:231070
HP:0000316	Hypertelorism	2077	ERF	ORPHA:207
HP:0000316	Hypertelorism	2077	ERF	OMIM:617180
HP:0000316	Hypertelorism	2077	ERF	OMIM:600775
HP:0000316	Hypertelorism	4141	MARS1	OMIM:620323
HP:0000316	Hypertelorism	8604	SLC25A12	OMIM:612949
HP:0000316	Hypertelorism	80324	PUS1	OMIM:600462
HP:0000316	Hypertelorism	9496	TBX4	ORPHA:261279
HP:0000316	Hypertelorism	8091	HMGA2	ORPHA:94063
HP:0000316	Hypertelorism	23592	LEMD3	ORPHA:94063
HP:0000316	Hypertelorism	22808	MRAS	OMIM:618499
HP:0000316	Hypertelorism	22808	MRAS	ORPHA:648
HP:0000316	Hypertelorism	9451	EIF2AK3	OMIM:226980
HP:0000316	Hypertelorism	5277	PIGA	OMIM:300868
HP:0000316	Hypertelorism	5144	PDE4D	ORPHA:439822
HP:0000316	Hypertelorism	5144	PDE4D	ORPHA:950
HP:0000316	Hypertelorism	2475	MTOR	ORPHA:457485
HP:0000316	Hypertelorism	2475	MTOR	OMIM:616638
HP:0000316	Hypertelorism	6023	RMRP	OMIM:607095
HP:0000316	Hypertelorism	5573	PRKAR1A	OMIM:101800
HP:0000316	Hypertelorism	5573	PRKAR1A	ORPHA:950
HP:0000316	Hypertelorism	57187	THOC2	ORPHA:457240
HP:0000316	Hypertelorism	51715	RAB23	ORPHA:65759
HP:0000316	Hypertelorism	9791	PTDSS1	OMIM:151050
HP:0000316	Hypertelorism	9791	PTDSS1	ORPHA:2658
HP:0000316	Hypertelorism	10771	ZMYND11	OMIM:616083
HP:0000316	Hypertelorism	57003	CCDC47	OMIM:618268
HP:0000316	Hypertelorism	5977	DPF2	OMIM:618027
HP:0000316	Hypertelorism	340419	RSPO2	OMIM:618021
HP:0000316	Hypertelorism	4041	LRP5	ORPHA:178377
HP:0000316	Hypertelorism	145173	B3GLCT	OMIM:261540
HP:0000316	Hypertelorism	145173	B3GLCT	ORPHA:709
HP:0000316	Hypertelorism	1387	CREBBP	OMIM:180849
HP:0000316	Hypertelorism	1387	CREBBP	ORPHA:353277
HP:0000316	Hypertelorism	1387	CREBBP	ORPHA:592574
HP:0000316	Hypertelorism	79005	SCNM1	OMIM:620107
HP:0000316	Hypertelorism	285590	SH3PXD2B	ORPHA:137834
HP:0000316	Hypertelorism	285590	SH3PXD2B	OMIM:249420
HP:0000316	Hypertelorism	4796	TONSL	OMIM:271510
HP:0000316	Hypertelorism	57465	TBC1D24	ORPHA:79500
HP:0000316	Hypertelorism	57465	TBC1D24	OMIM:220500
HP:0000316	Hypertelorism	10653	SPINT2	OMIM:270420
HP:0000316	Hypertelorism	84172	POLR1B	ORPHA:861
HP:0000316	Hypertelorism	9533	POLR1C	ORPHA:861
HP:0000316	Hypertelorism	51082	POLR1D	ORPHA:861
HP:0000316	Hypertelorism	6949	TCOF1	ORPHA:861
HP:0000316	Hypertelorism	23405	DICER1	OMIM:618272
HP:0000316	Hypertelorism	2571	GAD1	OMIM:619124
HP:0000316	Hypertelorism	90416	CCDC32	OMIM:619123
HP:0000316	Hypertelorism	118924	FRA10AC1	OMIM:620113
HP:0000316	Hypertelorism	55252	ASXL2	OMIM:617190
HP:0000316	Hypertelorism	23154	NCDN	OMIM:619373
HP:0000316	Hypertelorism	1984	EIF5A	OMIM:619376
HP:0000316	Hypertelorism	55835	CPAP	OMIM:608393
HP:0000316	Hypertelorism	3295	HSD17B4	OMIM:261515
HP:0000316	Hypertelorism	22800	RRAS2	ORPHA:648
HP:0000316	Hypertelorism	867	CBL	ORPHA:648
HP:0000316	Hypertelorism	867	CBL	OMIM:613563
HP:0000316	Hypertelorism	6237	RRAS	ORPHA:648
HP:0000316	Hypertelorism	3845	KRAS	ORPHA:648
HP:0000316	Hypertelorism	3845	KRAS	ORPHA:1340
HP:0000316	Hypertelorism	3845	KRAS	OMIM:609942
HP:0000316	Hypertelorism	5922	RASA2	ORPHA:648
HP:0000316	Hypertelorism	11011	TLK2	OMIM:618050
HP:0000316	Hypertelorism	129285	PPP1R21	OMIM:619383
HP:0000316	Hypertelorism	6913	TBX15	OMIM:260660
HP:0000316	Hypertelorism	6913	TBX15	ORPHA:93333
HP:0000316	Hypertelorism	5567	PRKACB	OMIM:619143
HP:0000316	Hypertelorism	221692	PHACTR1	OMIM:618298
HP:0000316	Hypertelorism	6499	SKIC2	ORPHA:84064
HP:0000316	Hypertelorism	6499	SKIC2	OMIM:614602
HP:0000316	Hypertelorism	5605	MAP2K2	ORPHA:638
HP:0000316	Hypertelorism	5605	MAP2K2	ORPHA:1340
HP:0000316	Hypertelorism	4067	LYN	OMIM:620376
HP:0000316	Hypertelorism	11113	CIT	OMIM:617090
HP:0000316	Hypertelorism	10128	LRPPRC	OMIM:220111
HP:0000316	Hypertelorism	58499	ZNF462	ORPHA:502430
HP:0000316	Hypertelorism	9131	AIFM1	OMIM:300232
HP:0000316	Hypertelorism	259232	NALCN	ORPHA:2053
HP:0000316	Hypertelorism	259232	NALCN	ORPHA:562528
HP:0000316	Hypertelorism	341640	FREM2	ORPHA:2052
HP:0000316	Hypertelorism	23426	GRIP1	ORPHA:2052
HP:0000316	Hypertelorism	95	ACY1	ORPHA:137754
HP:0000316	Hypertelorism	95	ACY1	OMIM:609924
HP:0000316	Hypertelorism	118987	PDZD8	OMIM:620021
HP:0000316	Hypertelorism	2629	GBA1	OMIM:608013
HP:0000316	Hypertelorism	58	ACTA1	ORPHA:171433
HP:0000316	Hypertelorism	58	ACTA1	ORPHA:171439
HP:0000316	Hypertelorism	10324	KLHL41	ORPHA:171433
HP:0000316	Hypertelorism	10324	KLHL41	ORPHA:171439
HP:0000316	Hypertelorism	7170	TPM3	ORPHA:171433
HP:0000316	Hypertelorism	7170	TPM3	ORPHA:171439
HP:0000316	Hypertelorism	9442	MED27	OMIM:619286
HP:0000316	Hypertelorism	6595	SMARCA2	OMIM:619293
HP:0000316	Hypertelorism	3899	AFF3	OMIM:619297
HP:0000316	Hypertelorism	9739	SETD1A	OMIM:619056
HP:0000316	Hypertelorism	4591	TRIM37	OMIM:253250
HP:0000316	Hypertelorism	29128	UHRF1	ORPHA:2268
HP:0000316	Hypertelorism	10352	WARS2	ORPHA:572798
HP:0000316	Hypertelorism	4338	MOCS2	OMIM:252160
HP:0000316	Hypertelorism	57167	SALL4	ORPHA:959
HP:0000316	Hypertelorism	57167	SALL4	OMIM:607323
HP:0000316	Hypertelorism	1302	COL11A2	ORPHA:2021
HP:0000316	Hypertelorism	657	BMPR1A	ORPHA:79076
HP:0000316	Hypertelorism	5826	ABCD4	OMIM:614857
HP:0000316	Hypertelorism	26227	PHGDH	OMIM:256520
HP:0000316	Hypertelorism	4953	ODC1	OMIM:619075
HP:0000316	Hypertelorism	4953	ODC1	ORPHA:544488
HP:0000316	Hypertelorism	5190	PEX6	OMIM:614862
HP:0000316	Hypertelorism	5190	PEX6	OMIM:614863
HP:0000316	Hypertelorism	1857	DVL3	ORPHA:3107
HP:0000316	Hypertelorism	1857	DVL3	OMIM:616894
HP:0000316	Hypertelorism	5828	PEX2	OMIM:614866
HP:0000316	Hypertelorism	81031	SLC2A10	ORPHA:3342
HP:0000316	Hypertelorism	81031	SLC2A10	OMIM:208050
HP:0000316	Hypertelorism	78989	COLEC11	OMIM:265050
HP:0000316	Hypertelorism	78989	COLEC11	ORPHA:293843
HP:0000316	Hypertelorism	6774	STAT3	OMIM:147060
HP:0000316	Hypertelorism	4089	SMAD4	OMIM:139210
HP:0000316	Hypertelorism	4089	SMAD4	ORPHA:91387
HP:0000316	Hypertelorism	5159	PDGFRB	OMIM:601812
HP:0000316	Hypertelorism	5594	MAPK1	OMIM:619087
HP:0000316	Hypertelorism	5832	ALDH18A1	OMIM:219150
HP:0000316	Hypertelorism	10430	TMEM147	OMIM:620075
HP:0000316	Hypertelorism	63895	PIEZO2	OMIM:248700
HP:0000316	Hypertelorism	4677	NARS1	OMIM:619092
HP:0000316	Hypertelorism	26047	CNTNAP2	OMIM:610042
HP:0000316	Hypertelorism	26047	CNTNAP2	ORPHA:163681
HP:0000316	Hypertelorism	8504	PEX3	OMIM:614882
HP:0000316	Hypertelorism	84665	MYPN	ORPHA:171439
HP:0000316	Hypertelorism	7169	TPM2	ORPHA:171439
HP:0000316	Hypertelorism	390594	KBTBD13	ORPHA:171439
HP:0000316	Hypertelorism	55681	SCYL2	ORPHA:1143
HP:0000316	Hypertelorism	84570	COL25A1	ORPHA:1143
HP:0000316	Hypertelorism	57222	ERGIC1	ORPHA:1143
HP:0000316	Hypertelorism	79791	FBXO31	OMIM:615979
HP:0000316	Hypertelorism	4313	MMP2	OMIM:259600
HP:0000316	Hypertelorism	2703	GJA8	OMIM:612474
HP:0000316	Hypertelorism	2702	GJA5	OMIM:612474
HP:0000316	Hypertelorism	7043	TGFB3	ORPHA:60030
HP:0000316	Hypertelorism	7043	TGFB3	OMIM:615582
HP:0000316	Hypertelorism	7043	TGFB3	ORPHA:91387
HP:0000316	Hypertelorism	27152	INTU	OMIM:617925
HP:0000316	Hypertelorism	1134	CHRNA1	OMIM:253290
HP:0000316	Hypertelorism	1144	CHRND	OMIM:253290
HP:0000316	Hypertelorism	6497	SKI	ORPHA:2462
HP:0000316	Hypertelorism	6497	SKI	OMIM:182212
HP:0000316	Hypertelorism	90417	KNSTRN	OMIM:613328
HP:0000316	Hypertelorism	90417	KNSTRN	ORPHA:221139
HP:0000316	Hypertelorism	5293	PIK3CD	OMIM:613328
HP:0000316	Hypertelorism	5293	PIK3CD	ORPHA:221139
HP:0000316	Hypertelorism	3720	JARID2	OMIM:620098
HP:0000316	Hypertelorism	6938	TCF12	ORPHA:35099
HP:0000316	Hypertelorism	7545	ZIC1	ORPHA:35099
HP:0000316	Hypertelorism	7545	ZIC1	OMIM:616602
HP:0000316	Hypertelorism	579	NKX3-2	OMIM:613330
HP:0000316	Hypertelorism	51621	KLF13	OMIM:612001
HP:0000316	Hypertelorism	1139	CHRNA7	OMIM:612001
HP:0000316	Hypertelorism	85358	SHANK3	OMIM:606232
HP:0000316	Hypertelorism	113179	ADAT3	ORPHA:363528
HP:0000316	Hypertelorism	55784	MCTP2	ORPHA:1596
HP:0000316	Hypertelorism	30008	EFEMP2	OMIM:614437
HP:0000316	Hypertelorism	4750	NEK1	OMIM:252100
HP:0000316	Hypertelorism	10265	IRX5	OMIM:611174
HP:0000316	Hypertelorism	5530	PPP3CA	OMIM:617711
HP:0000316	Hypertelorism	5925	RB1	ORPHA:1587
HP:0000316	Hypertelorism	5604	MAP2K1	ORPHA:1340
HP:0000316	Hypertelorism	5604	MAP2K1	OMIM:163950
HP:0000316	Hypertelorism	9325	TRIP4	OMIM:616866
HP:0000316	Hypertelorism	1063	CENPF	OMIM:243605
HP:0000316	Hypertelorism	2248	FGF3	ORPHA:90024
HP:0000316	Hypertelorism	5718	PSMD12	ORPHA:529962
HP:0000316	Hypertelorism	5718	PSMD12	OMIM:617516
HP:0000316	Hypertelorism	2186	BPTF	ORPHA:529962
HP:0000316	Hypertelorism	2186	BPTF	OMIM:617755
HP:0000316	Hypertelorism	84342	COG8	OMIM:611182
HP:0000316	Hypertelorism	7067	THRA	OMIM:614450
HP:0000316	Hypertelorism	23065	EMC1	OMIM:616875
HP:0000316	Hypertelorism	57572	DOCK6	OMIM:614219
HP:0000316	Hypertelorism	59336	PRDM13	OMIM:619909
HP:0000316	Hypertelorism	4337	MOCS1	OMIM:252150
HP:0000316	Hypertelorism	51524	TMEM138	OMIM:614465
HP:0000316	Hypertelorism	4659	PPP1R12A	OMIM:618820
HP:0000316	Hypertelorism	54796	BNC2	ORPHA:93110
HP:0000316	Hypertelorism	8405	SPOP	OMIM:618829
HP:0000316	Hypertelorism	54870	QRICH1	OMIM:617982
HP:0000316	Hypertelorism	83737	ITCH	OMIM:613385
HP:0000316	Hypertelorism	202018	TAPT1	OMIM:616897
HP:0000316	Hypertelorism	6608	SMO	ORPHA:1553
HP:0000316	Hypertelorism	4841	NONO	ORPHA:466791
HP:0000316	Hypertelorism	9320	TRIP12	OMIM:617752
HP:0000316	Hypertelorism	440	ASNS	OMIM:615574
HP:0000316	Hypertelorism	738	VPS51	OMIM:618606
HP:0000316	Hypertelorism	10312	TCIRG1	ORPHA:1782
HP:0000316	Hypertelorism	55315	SLC29A3	ORPHA:1782
HP:0000316	Hypertelorism	8792	TNFRSF11A	ORPHA:1782
HP:0000316	Hypertelorism	5430	POLR2A	OMIM:618603
HP:0000316	Hypertelorism	26229	B3GAT3	OMIM:245600
HP:0000316	Hypertelorism	5307	PITX1	OMIM:119800
HP:0000316	Hypertelorism	92935	MARS2	OMIM:616430
HP:0000316	Hypertelorism	7543	ZFX	OMIM:301118
HP:0000316	Hypertelorism	2036	EPB41L1	OMIM:614257
HP:0000316	Hypertelorism	4629	MYH11	ORPHA:91387
HP:0000316	Hypertelorism	4015	LOX	ORPHA:91387
HP:0000316	Hypertelorism	59	ACTA2	ORPHA:91387
HP:0000316	Hypertelorism	5592	PRKG1	ORPHA:91387
HP:0000316	Hypertelorism	2301	FOXE3	ORPHA:91387
HP:0000316	Hypertelorism	4144	MAT2A	ORPHA:91387
HP:0000316	Hypertelorism	23493	HEY2	ORPHA:91387
HP:0000316	Hypertelorism	8076	MFAP5	ORPHA:91387
HP:0000316	Hypertelorism	4638	MYLK	ORPHA:91387
HP:0000316	Hypertelorism	2006	ELN	ORPHA:91387
HP:0000316	Hypertelorism	63901	FAM111A	ORPHA:93325
HP:0000316	Hypertelorism	9990	SLC12A6	OMIM:218000
HP:0000317	Facial myokymia	5521	PPP2R2B	OMIM:604326
HP:0000317	Facial myokymia	111	ADCY5	OMIM:606703
HP:0000317	Facial myokymia	111	ADCY5	ORPHA:324588
HP:0000317	Facial myokymia	203190	LGI3	OMIM:620007
HP:0000317	Facial myokymia	23400	ATP13A2	ORPHA:513436
HP:0000317	Facial myokymia	87178	PNPT1	OMIM:608703
HP:0000317	Facial myokymia	87178	PNPT1	ORPHA:101111
HP:0000317	Facial myokymia	6712	SPTBN2	OMIM:600224
HP:0000317	Facial myokymia	215	ABCD1	ORPHA:139396
HP:0000317	Facial myokymia	5582	PRKCG	OMIM:605361
HP:0030780	Abnormality of the protein C anticoagulant pathway	4351	MPI	ORPHA:79319
HP:0030780	Abnormality of the protein C anticoagulant pathway	1798	DPAGT1	ORPHA:86309
HP:0030780	Abnormality of the protein C anticoagulant pathway	8813	DPM1	OMIM:608799
HP:0030780	Abnormality of the protein C anticoagulant pathway	8813	DPM1	ORPHA:79322
HP:0030780	Abnormality of the protein C anticoagulant pathway	84342	COG8	OMIM:611182
HP:0030780	Abnormality of the protein C anticoagulant pathway	2677	GGCX	OMIM:277450
HP:0030780	Abnormality of the protein C anticoagulant pathway	5627	PROS1	OMIM:614514
HP:0030780	Abnormality of the protein C anticoagulant pathway	5627	PROS1	OMIM:612336
HP:0030780	Abnormality of the protein C anticoagulant pathway	29929	ALG6	ORPHA:79320
HP:0030780	Abnormality of the protein C anticoagulant pathway	2683	B4GALT1	ORPHA:79332
HP:0030780	Abnormality of the protein C anticoagulant pathway	79087	ALG12	ORPHA:79324
HP:0030780	Abnormality of the protein C anticoagulant pathway	5624	PROC	OMIM:612304
HP:0030780	Abnormality of the protein C anticoagulant pathway	5624	PROC	OMIM:176860
HP:0030780	Abnormality of the protein C anticoagulant pathway	6811	STX5	OMIM:620454
HP:0030780	Abnormality of the protein C anticoagulant pathway	55768	NGLY1	ORPHA:404454
HP:0030780	Abnormality of the protein C anticoagulant pathway	79053	ALG8	ORPHA:79325
HP:0030780	Abnormality of the protein C anticoagulant pathway	2153	F5	OMIM:188055
HP:0100523	Liver abscess	1536	CYBB	OMIM:306400
HP:0100523	Liver abscess	1536	CYBB	ORPHA:379
HP:0100523	Liver abscess	5244	ABCB4	ORPHA:69663
HP:0100523	Liver abscess	4688	NCF2	OMIM:233710
HP:0100523	Liver abscess	4688	NCF2	ORPHA:379
HP:0100523	Liver abscess	653361	NCF1	OMIM:233700
HP:0100523	Liver abscess	653361	NCF1	ORPHA:379
HP:0100523	Liver abscess	1535	CYBA	OMIM:233690
HP:0100523	Liver abscess	1535	CYBA	ORPHA:379
HP:0100523	Liver abscess	51135	IRAK4	OMIM:607676
HP:0100523	Liver abscess	3514	IGKC	ORPHA:183675
HP:0100523	Liver abscess	3501	IGHG2	ORPHA:183675
HP:0100523	Liver abscess	4689	NCF4	ORPHA:379
HP:0100523	Liver abscess	79415	CYBC1	ORPHA:379
HP:0100523	Liver abscess	5314	PKHD1	ORPHA:53035
HP:0100523	Liver abscess	1075	CTSC	ORPHA:678
HP:0001401	Intrahepatic biliary dysgenesis	5828	PEX2	OMIM:614866
HP:0001401	Intrahepatic biliary dysgenesis	5830	PEX5	OMIM:214110
HP:0001401	Intrahepatic biliary dysgenesis	5189	PEX1	OMIM:214100
HP:0001403	Macrovesicular hepatic steatosis	5428	POLG	ORPHA:298
HP:0001403	Macrovesicular hepatic steatosis	1890	TYMP	ORPHA:298
HP:0001403	Macrovesicular hepatic steatosis	3980	LIG3	ORPHA:298
HP:0001403	Macrovesicular hepatic steatosis	50484	RRM2B	ORPHA:298
HP:0001403	Macrovesicular hepatic steatosis	1376	CPT2	OMIM:608836
HP:0001403	Macrovesicular hepatic steatosis	1376	CPT2	OMIM:600649
HP:0001403	Macrovesicular hepatic steatosis	10165	SLC25A13	OMIM:605814
HP:0001403	Macrovesicular hepatic steatosis	55687	TRMU	OMIM:613070
HP:0001403	Macrovesicular hepatic steatosis	51103	NDUFAF1	OMIM:618234
HP:0001403	Macrovesicular hepatic steatosis	10651	MTX2	OMIM:619127
HP:0001403	Macrovesicular hepatic steatosis	57128	LYRM4	OMIM:615595
HP:0001403	Macrovesicular hepatic steatosis	8260	NAA10	OMIM:300855
HP:0001403	Macrovesicular hepatic steatosis	125988	MICOS13	OMIM:618329
HP:0001403	Macrovesicular hepatic steatosis	65082	VPS33A	OMIM:617303
HP:0001403	Macrovesicular hepatic steatosis	1794	DOCK2	OMIM:616433
HP:0001403	Macrovesicular hepatic steatosis	4358	MPV17	OMIM:256810
HP:0001403	Macrovesicular hepatic steatosis	124454	EARS2	OMIM:614924
HP:0001403	Macrovesicular hepatic steatosis	1581	CYP7A1	ORPHA:209902
HP:0001404	Hepatocellular necrosis	4358	MPV17	OMIM:256810
HP:0001404	Hepatocellular necrosis	37	ACADVL	OMIM:201475
HP:0001404	Hepatocellular necrosis	374354	NHLRC2	OMIM:618278
HP:0001404	Hepatocellular necrosis	1716	DGUOK	OMIM:251880
HP:0001405	Periportal fibrosis	79796	ALG9	ORPHA:79328
HP:0001405	Periportal fibrosis	79796	ALG9	OMIM:263210
HP:0001405	Periportal fibrosis	123264	SLC51B	OMIM:619481
HP:0001405	Periportal fibrosis	203286	ANKS6	OMIM:615382
HP:0001405	Periportal fibrosis	37	ACADVL	OMIM:201475
HP:0001405	Periportal fibrosis	200931	SLC51A	OMIM:619484
HP:0001405	Periportal fibrosis	5314	PKHD1	OMIM:263200
HP:0001405	Periportal fibrosis	5314	PKHD1	ORPHA:731
HP:0001405	Periportal fibrosis	5314	PKHD1	ORPHA:53035
HP:0001405	Periportal fibrosis	3988	LIPA	OMIM:278000
HP:0001405	Periportal fibrosis	4358	MPV17	OMIM:256810
HP:0001405	Periportal fibrosis	617	BCS1L	OMIM:124000
HP:0001405	Periportal fibrosis	199221	DZIP1L	ORPHA:731
HP:0001405	Periportal fibrosis	1716	DGUOK	OMIM:251880
HP:0001406	Intrahepatic cholestasis	2271	FH	OMIM:606812
HP:0001406	Intrahepatic cholestasis	3043	HBB	ORPHA:232
HP:0001406	Intrahepatic cholestasis	80270	HSD3B7	OMIM:607765
HP:0001406	Intrahepatic cholestasis	3376	IARS1	OMIM:617093
HP:0001406	Intrahepatic cholestasis	8647	ABCB11	OMIM:601847
HP:0001406	Intrahepatic cholestasis	8647	ABCB11	OMIM:605479
HP:0001406	Intrahepatic cholestasis	6309	SC5D	ORPHA:46059
HP:0001406	Intrahepatic cholestasis	6309	SC5D	OMIM:607330
HP:0001406	Intrahepatic cholestasis	54914	FOCAD	OMIM:619991
HP:0001406	Intrahepatic cholestasis	4358	MPV17	OMIM:256810
HP:0001406	Intrahepatic cholestasis	6718	AKR1D1	OMIM:235555
HP:0001406	Intrahepatic cholestasis	9414	TJP2	OMIM:615878
HP:0001406	Intrahepatic cholestasis	5236	PGM1	OMIM:614921
HP:0001406	Intrahepatic cholestasis	5195	PEX14	OMIM:614887
HP:0001406	Intrahepatic cholestasis	9420	CYP7B1	OMIM:613812
HP:0001406	Intrahepatic cholestasis	23600	AMACR	OMIM:214950
HP:0001406	Intrahepatic cholestasis	5314	PKHD1	ORPHA:53035
HP:0001406	Intrahepatic cholestasis	10165	SLC25A13	OMIM:605814
HP:0001406	Intrahepatic cholestasis	5244	ABCB4	OMIM:602347
HP:0001406	Intrahepatic cholestasis	5244	ABCB4	ORPHA:69663
HP:0001406	Intrahepatic cholestasis	5244	ABCB4	OMIM:614972
HP:0001406	Intrahepatic cholestasis	197131	UBR1	OMIM:243800
HP:0001406	Intrahepatic cholestasis	55610	VPS50	OMIM:619685
HP:0001406	Intrahepatic cholestasis	6514	SLC2A2	OMIM:227810
HP:0001406	Intrahepatic cholestasis	5205	ATP8B1	OMIM:147480
HP:0001406	Intrahepatic cholestasis	162	AP1B1	ORPHA:171851
HP:0001406	Intrahepatic cholestasis	1174	AP1S1	ORPHA:171851
HP:0001406	Intrahepatic cholestasis	200931	SLC51A	OMIM:619484
HP:0001406	Intrahepatic cholestasis	84936	ZFYVE19	OMIM:619849
HP:0001406	Intrahepatic cholestasis	427	ASAH1	ORPHA:333
HP:0001407	Hepatic cysts	51726	DNAJB11	OMIM:618061
HP:0001407	Hepatic cysts	51726	DNAJB11	ORPHA:730
HP:0001407	Hepatic cysts	23193	GANAB	ORPHA:730
HP:0001407	Hepatic cysts	23193	GANAB	OMIM:600666
HP:0001407	Hepatic cysts	5310	PKD1	ORPHA:730
HP:0001407	Hepatic cysts	5310	PKD1	OMIM:173900
HP:0001407	Hepatic cysts	5311	PKD2	ORPHA:730
HP:0001407	Hepatic cysts	5311	PKD2	OMIM:613095
HP:0001407	Hepatic cysts	29880	ALG5	ORPHA:730
HP:0001407	Hepatic cysts	9742	IFT140	ORPHA:730
HP:0001407	Hepatic cysts	79796	ALG9	ORPHA:730
HP:0001407	Hepatic cysts	79796	ALG9	ORPHA:79328
HP:0001407	Hepatic cysts	80114	BICC1	ORPHA:730
HP:0001407	Hepatic cysts	5314	PKHD1	OMIM:263200
HP:0001407	Hepatic cysts	57545	CC2D2A	OMIM:612284
HP:0001407	Hepatic cysts	284086	NEK8	OMIM:620903
HP:0001407	Hepatic cysts	284086	NEK8	OMIM:615415
HP:0001407	Hepatic cysts	4041	LRP5	OMIM:617875
HP:0001407	Hepatic cysts	79053	ALG8	OMIM:617874
HP:0001407	Hepatic cysts	57728	WDR19	OMIM:616307
HP:0001407	Hepatic cysts	57728	WDR19	OMIM:614377
HP:0001407	Hepatic cysts	3458	IFNG	ORPHA:805
HP:0001407	Hepatic cysts	7248	TSC1	ORPHA:805
HP:0001407	Hepatic cysts	7249	TSC2	ORPHA:805
HP:0001407	Hepatic cysts	55764	IFT122	OMIM:218330
HP:0001407	Hepatic cysts	79809	TTC21B	OMIM:613819
HP:0001407	Hepatic cysts	11231	SEC63	OMIM:617004
HP:0001407	Hepatic cysts	27031	NPHP3	OMIM:208540
HP:0001407	Hepatic cysts	2137	EXTL3	OMIM:617425
HP:0001407	Hepatic cysts	8481	OFD1	OMIM:311200
HP:0001407	Hepatic cysts	3716	JAK1	OMIM:618999
HP:0001408	Bile duct proliferation	9968	MED12	OMIM:301068
HP:0001408	Bile duct proliferation	9076	CLDN1	OMIM:607626
HP:0001408	Bile duct proliferation	51473	DCDC2	OMIM:617394
HP:0001408	Bile duct proliferation	51473	DCDC2	OMIM:616217
HP:0001408	Bile duct proliferation	79989	IFT56	OMIM:619534
HP:0001408	Bile duct proliferation	57545	CC2D2A	OMIM:612284
HP:0001408	Bile duct proliferation	125988	MICOS13	OMIM:618329
HP:0001408	Bile duct proliferation	80184	CEP290	OMIM:611134
HP:0001408	Bile duct proliferation	57539	WDR35	OMIM:613610
HP:0001408	Bile duct proliferation	3295	HSD17B4	OMIM:261515
HP:0001408	Bile duct proliferation	91147	TMEM67	OMIM:610688
HP:0001408	Bile duct proliferation	91147	TMEM67	OMIM:607361
HP:0001408	Bile duct proliferation	9420	CYP7B1	OMIM:613812
HP:0001408	Bile duct proliferation	9420	CYP7B1	ORPHA:79302
HP:0001408	Bile duct proliferation	10056	FARSB	OMIM:613658
HP:0001408	Bile duct proliferation	5428	POLG	OMIM:203700
HP:0001408	Bile duct proliferation	27031	NPHP3	OMIM:267010
HP:0001408	Bile duct proliferation	27031	NPHP3	OMIM:208540
HP:0001408	Bile duct proliferation	5244	ABCB4	OMIM:602347
HP:0001408	Bile duct proliferation	5244	ABCB4	OMIM:600803
HP:0001408	Bile duct proliferation	54903	MKS1	OMIM:249000
HP:0001408	Bile duct proliferation	113220	KIF12	OMIM:619662
HP:0001408	Bile duct proliferation	23322	RPGRIP1L	OMIM:611561
HP:0001408	Bile duct proliferation	5261	PHKG2	OMIM:613027
HP:0001408	Bile duct proliferation	2542	SLC37A4	OMIM:619525
HP:0001408	Bile duct proliferation	51259	TMEM216	OMIM:603194
HP:0025492	Microcoria	2670	GFAP	OMIM:203450
HP:0025492	Microcoria	5950	RBP4	OMIM:616428
HP:0025492	Microcoria	3913	LAMB2	OMIM:609049
HP:0025492	Microcoria	4796	TONSL	ORPHA:93357
HP:0025493	Palmoplantar erythema	2703	GJA8	OMIM:612474
HP:0025493	Palmoplantar erythema	2702	GJA5	OMIM:612474
HP:0025493	Palmoplantar erythema	1832	DSP	OMIM:605676
HP:0025493	Palmoplantar erythema	80326	WNT10A	OMIM:257980
HP:0025493	Palmoplantar erythema	2697	GJA1	OMIM:104100
HP:0025496	Abnormal coronary artery physiology	7840	ALMS1	ORPHA:64
HP:0025498	Aceruloplasminemia	1356	CP	OMIM:604290
HP:0025498	Aceruloplasminemia	1356	CP	ORPHA:48818
HP:0001409	Portal hypertension	171023	ASXL1	ORPHA:98850
HP:0001409	Portal hypertension	54790	TET2	ORPHA:98850
HP:0001409	Portal hypertension	54790	TET2	ORPHA:824
HP:0001409	Portal hypertension	867	CBL	ORPHA:98850
HP:0001409	Portal hypertension	861	RUNX1	ORPHA:98850
HP:0001409	Portal hypertension	6427	SRSF2	ORPHA:98850
HP:0001409	Portal hypertension	7840	ALMS1	ORPHA:64
HP:0001409	Portal hypertension	5314	PKHD1	OMIM:263200
HP:0001409	Portal hypertension	5314	PKHD1	ORPHA:53035
HP:0001409	Portal hypertension	5314	PKHD1	ORPHA:731
HP:0001409	Portal hypertension	55532	SLC30A10	ORPHA:309854
HP:0001409	Portal hypertension	72	ACTG2	OMIM:619431
HP:0001409	Portal hypertension	2632	GBE1	OMIM:232500
HP:0001409	Portal hypertension	9414	TJP2	OMIM:615878
HP:0001409	Portal hypertension	811	CALR	ORPHA:824
HP:0001409	Portal hypertension	811	CALR	ORPHA:131
HP:0001409	Portal hypertension	4352	MPL	ORPHA:824
HP:0001409	Portal hypertension	3717	JAK2	ORPHA:824
HP:0001409	Portal hypertension	3717	JAK2	ORPHA:131
HP:0001409	Portal hypertension	3717	JAK2	ORPHA:729
HP:0001409	Portal hypertension	10056	FARSB	OMIM:613658
HP:0001409	Portal hypertension	91147	TMEM67	OMIM:216360
HP:0001409	Portal hypertension	91147	TMEM67	ORPHA:84081
HP:0001409	Portal hypertension	91147	TMEM67	ORPHA:1454
HP:0001409	Portal hypertension	197131	UBR1	OMIM:243800
HP:0001409	Portal hypertension	3594	IL12RB1	ORPHA:186
HP:0001409	Portal hypertension	23534	TNPO3	ORPHA:186
HP:0001409	Portal hypertension	3592	IL12A	ORPHA:186
HP:0001409	Portal hypertension	6689	SPIB	ORPHA:186
HP:0001409	Portal hypertension	5450	POU2AF1	ORPHA:186
HP:0001409	Portal hypertension	9966	TNFSF15	ORPHA:186
HP:0001409	Portal hypertension	79258	MMEL1	ORPHA:186
HP:0001409	Portal hypertension	3663	IRF5	ORPHA:186
HP:0001409	Portal hypertension	100147744	RNU7-1	OMIM:619487
HP:0001409	Portal hypertension	79991	STN1	OMIM:617341
HP:0001409	Portal hypertension	27031	NPHP3	OMIM:208540
HP:0001409	Portal hypertension	27031	NPHP3	OMIM:267010
HP:0001409	Portal hypertension	83737	ITCH	OMIM:613385
HP:0001409	Portal hypertension	83737	ITCH	ORPHA:228426
HP:0001409	Portal hypertension	1716	DGUOK	OMIM:617068
HP:0001409	Portal hypertension	1716	DGUOK	OMIM:251880
HP:0001409	Portal hypertension	50674	NEUROG3	ORPHA:83620
HP:0001409	Portal hypertension	51816	ADA2	OMIM:615688
HP:0001409	Portal hypertension	84936	ZFYVE19	OMIM:619849
HP:0001409	Portal hypertension	169792	GLIS3	OMIM:610199
HP:0001409	Portal hypertension	51473	DCDC2	ORPHA:84081
HP:0001409	Portal hypertension	51473	DCDC2	OMIM:617394
HP:0001409	Portal hypertension	23729	SHPK	ORPHA:440713
HP:0001409	Portal hypertension	9076	CLDN1	ORPHA:59303
HP:0001409	Portal hypertension	9076	CLDN1	OMIM:607626
HP:0001409	Portal hypertension	5698	PSMB9	OMIM:620796
HP:0001409	Portal hypertension	6663	SOX10	OMIM:609136
HP:0001409	Portal hypertension	2006	ELN	OMIM:194050
HP:0001409	Portal hypertension	51085	MLXIPL	OMIM:194050
HP:0001409	Portal hypertension	3516	RBPJ	ORPHA:974
HP:0001409	Portal hypertension	4851	NOTCH1	ORPHA:974
HP:0001409	Portal hypertension	57514	ARHGAP31	ORPHA:974
HP:0001409	Portal hypertension	57572	DOCK6	ORPHA:974
HP:0001409	Portal hypertension	285203	EOGT	ORPHA:974
HP:0001409	Portal hypertension	54567	DLL4	ORPHA:974
HP:0001409	Portal hypertension	54567	DLL4	OMIM:616589
HP:0001409	Portal hypertension	199221	DZIP1L	ORPHA:731
HP:0001409	Portal hypertension	9968	MED12	OMIM:301068
HP:0001409	Portal hypertension	2658	GDF2	ORPHA:774
HP:0001409	Portal hypertension	2658	GDF2	OMIM:615506
HP:0001409	Portal hypertension	94	ACVRL1	ORPHA:774
HP:0001409	Portal hypertension	4089	SMAD4	ORPHA:774
HP:0001409	Portal hypertension	2022	ENG	ORPHA:774
HP:0001409	Portal hypertension	4351	MPI	ORPHA:79319
HP:0001409	Portal hypertension	2153	F5	ORPHA:131
HP:0001409	Portal hypertension	2859	GPR35	ORPHA:171
HP:0001409	Portal hypertension	10507	SEMA4D	ORPHA:171
HP:0001409	Portal hypertension	4485	MST1	ORPHA:171
HP:0001409	Portal hypertension	6925	TCF4	ORPHA:171
HP:0001409	Portal hypertension	79989	IFT56	OMIM:619534
HP:0001409	Portal hypertension	3988	LIPA	OMIM:278000
HP:0001409	Portal hypertension	654	BMP6	ORPHA:465508
HP:0001409	Portal hypertension	3077	HFE	ORPHA:465508
HP:0001409	Portal hypertension	5557	PRIM1	OMIM:620005
HP:0001409	Portal hypertension	25913	POT1	OMIM:620367
HP:0001409	Portal hypertension	92345	NAF1	OMIM:620365
HP:0001409	Portal hypertension	3431	SP110	ORPHA:79124
HP:0001409	Portal hypertension	5825	ABCD3	OMIM:616278
HP:0001409	Portal hypertension	93183	PIGM	OMIM:610293
HP:0001409	Portal hypertension	55340	GIMAP5	OMIM:619463
HP:0001409	Portal hypertension	113220	KIF12	OMIM:619662
HP:0001409	Portal hypertension	7289	TULP3	OMIM:619902
HP:0001409	Portal hypertension	56623	INPP5E	ORPHA:1454
HP:0001409	Portal hypertension	23322	RPGRIP1L	ORPHA:1454
HP:0001409	Portal hypertension	57545	CC2D2A	ORPHA:1454
HP:0001409	Portal hypertension	2783	GNB2	OMIM:619503
HP:0001409	Portal hypertension	56244	BTNL2	ORPHA:797
HP:0001409	Portal hypertension	3123	HLA-DRB1	ORPHA:797
HP:0001409	Portal hypertension	2629	GBA1	ORPHA:77259
HP:0001409	Portal hypertension	950	SCARB2	ORPHA:77259
HP:0000319	Smooth philtrum	8243	SMC1A	OMIM:300590
HP:0000319	Smooth philtrum	8243	SMC1A	OMIM:301044
HP:0000319	Smooth philtrum	158	ADSL	OMIM:103050
HP:0000319	Smooth philtrum	158	ADSL	ORPHA:46
HP:0000319	Smooth philtrum	11253	MAN1B1	ORPHA:397941
HP:0000319	Smooth philtrum	11253	MAN1B1	OMIM:614202
HP:0000319	Smooth philtrum	23394	ADNP	ORPHA:404448
HP:0000319	Smooth philtrum	23394	ADNP	OMIM:615873
HP:0000319	Smooth philtrum	26235	FBXL4	OMIM:615471
HP:0000319	Smooth philtrum	8367	H4C5	OMIM:619950
HP:0000319	Smooth philtrum	50651	SLC45A1	OMIM:617532
HP:0000319	Smooth philtrum	5885	RAD21	OMIM:614701
HP:0000319	Smooth philtrum	55627	SMPD4	OMIM:618622
HP:0000319	Smooth philtrum	57539	WDR35	OMIM:613610
HP:0000319	Smooth philtrum	5927	KDM5A	OMIM:620820
HP:0000319	Smooth philtrum	55209	SETD5	ORPHA:404440
HP:0000319	Smooth philtrum	55209	SETD5	OMIM:615761
HP:0000319	Smooth philtrum	10743	RAI1	ORPHA:477817
HP:0000319	Smooth philtrum	4281	MID1	OMIM:300000
HP:0000319	Smooth philtrum	374654	KIF7	OMIM:200990
HP:0000319	Smooth philtrum	9578	CDC42BPB	OMIM:619841
HP:0000319	Smooth philtrum	3020	H3-3A	OMIM:619720
HP:0000319	Smooth philtrum	613	BCR	ORPHA:261330
HP:0000319	Smooth philtrum	1399	CRKL	ORPHA:261330
HP:0000319	Smooth philtrum	5594	MAPK1	ORPHA:261330
HP:0000319	Smooth philtrum	89910	UBE3B	OMIM:244450
HP:0000319	Smooth philtrum	89910	UBE3B	ORPHA:2707
HP:0000319	Smooth philtrum	55690	PACS1	OMIM:615009
HP:0000319	Smooth philtrum	55690	PACS1	ORPHA:329224
HP:0000319	Smooth philtrum	129563	DIS3L2	ORPHA:2849
HP:0000319	Smooth philtrum	10472	ZBTB18	ORPHA:36367
HP:0000319	Smooth philtrum	10472	ZBTB18	OMIM:612337
HP:0000319	Smooth philtrum	26153	KIF26A	OMIM:620156
HP:0000319	Smooth philtrum	9382	COG1	OMIM:611209
HP:0000319	Smooth philtrum	9382	COG1	ORPHA:263508
HP:0000319	Smooth philtrum	7175	TPR	OMIM:620393
HP:0000319	Smooth philtrum	56992	KIF15	ORPHA:261323
HP:0000319	Smooth philtrum	83696	TRAPPC9	OMIM:613192
HP:0000319	Smooth philtrum	55870	ASH1L	OMIM:617796
HP:0000319	Smooth philtrum	3899	AFF3	OMIM:619297
HP:0000319	Smooth philtrum	80204	FBXO11	OMIM:618089
HP:0000319	Smooth philtrum	23545	ATP6V0A2	ORPHA:2834
HP:0000319	Smooth philtrum	23545	ATP6V0A2	OMIM:278250
HP:0000319	Smooth philtrum	23545	ATP6V0A2	ORPHA:357074
HP:0000319	Smooth philtrum	8546	AP3B1	OMIM:608233
HP:0000319	Smooth philtrum	259232	NALCN	ORPHA:562528
HP:0000319	Smooth philtrum	259232	NALCN	OMIM:615419
HP:0000319	Smooth philtrum	259232	NALCN	ORPHA:371364
HP:0000319	Smooth philtrum	10484	SEC23A	OMIM:607812
HP:0000319	Smooth philtrum	10484	SEC23A	ORPHA:50814
HP:0000319	Smooth philtrum	10087	CERT1	OMIM:616351
HP:0000319	Smooth philtrum	22884	WDR37	OMIM:618652
HP:0000319	Smooth philtrum	1193	CLIC2	ORPHA:324410
HP:0000319	Smooth philtrum	1656	DDX6	OMIM:618653
HP:0000319	Smooth philtrum	23036	ZNF292	OMIM:619188
HP:0000319	Smooth philtrum	57178	ZMIZ1	OMIM:618659
HP:0000319	Smooth philtrum	55012	PPP2R3C	OMIM:618419
HP:0000319	Smooth philtrum	23314	SATB2	OMIM:612313
HP:0000319	Smooth philtrum	23314	SATB2	ORPHA:576283
HP:0000319	Smooth philtrum	26057	ANKRD17	OMIM:619504
HP:0000319	Smooth philtrum	11193	WBP4	OMIM:620852
HP:0000319	Smooth philtrum	55623	THUMPD1	OMIM:619989
HP:0000319	Smooth philtrum	25942	SIN3A	OMIM:613406
HP:0000319	Smooth philtrum	25942	SIN3A	ORPHA:94065
HP:0000319	Smooth philtrum	26834	RNU4-2	OMIM:620851
HP:0000319	Smooth philtrum	1499	CTNNB1	ORPHA:404473
HP:0000319	Smooth philtrum	3192	HNRNPU	ORPHA:238769
HP:0000319	Smooth philtrum	253738	EBF3	OMIM:617330
HP:0000319	Smooth philtrum	253738	EBF3	ORPHA:96148
HP:0000319	Smooth philtrum	57680	CHD8	OMIM:615032
HP:0000319	Smooth philtrum	2200	FBN1	OMIM:614185
HP:0000319	Smooth philtrum	5792	PTPRF	OMIM:616001
HP:0000319	Smooth philtrum	8558	CDK10	OMIM:617694
HP:0000319	Smooth philtrum	1660	DHX9	OMIM:620988
HP:0000319	Smooth philtrum	285175	UNC80	OMIM:616801
HP:0000319	Smooth philtrum	285175	UNC80	ORPHA:371364
HP:0000319	Smooth philtrum	3211	HOXB1	OMIM:614744
HP:0000319	Smooth philtrum	9091	PIGQ	OMIM:618548
HP:0000319	Smooth philtrum	6899	TBX1	ORPHA:1727
HP:0000319	Smooth philtrum	6134	RPL10	ORPHA:459070
HP:0000319	Smooth philtrum	6134	RPL10	OMIM:300998
HP:0000319	Smooth philtrum	9719	ADAMTSL2	OMIM:231050
HP:0000319	Smooth philtrum	11128	POLR3A	OMIM:264090
HP:0000319	Smooth philtrum	285362	SUMF1	ORPHA:585
HP:0000319	Smooth philtrum	79796	ALG9	ORPHA:79328
HP:0000319	Smooth philtrum	79796	ALG9	OMIM:263210
HP:0000319	Smooth philtrum	283209	PGM2L1	OMIM:620191
HP:0000319	Smooth philtrum	79718	TBL1XR1	OMIM:602342
HP:0000319	Smooth philtrum	79718	TBL1XR1	ORPHA:487825
HP:0000319	Smooth philtrum	79228	THOC6	ORPHA:363444
HP:0000319	Smooth philtrum	7358	UGDH	OMIM:618792
HP:0000319	Smooth philtrum	9772	TMEM94	OMIM:618316
HP:0000319	Smooth philtrum	124583	CANT1	OMIM:251450
HP:0000319	Smooth philtrum	10430	TMEM147	OMIM:620075
HP:0000319	Smooth philtrum	8813	DPM1	OMIM:608799
HP:0000319	Smooth philtrum	8813	DPM1	ORPHA:79322
HP:0000319	Smooth philtrum	8242	KDM5C	OMIM:300534
HP:0000319	Smooth philtrum	5077	PAX3	OMIM:193500
HP:0000319	Smooth philtrum	9968	MED12	OMIM:300895
HP:0000319	Smooth philtrum	26047	CNTNAP2	OMIM:610042
HP:0000319	Smooth philtrum	6611	SMS	OMIM:309583
HP:0000319	Smooth philtrum	6611	SMS	ORPHA:3063
HP:0000319	Smooth philtrum	25836	NIPBL	OMIM:122470
HP:0000319	Smooth philtrum	85459	CEP295	OMIM:620767
HP:0000319	Smooth philtrum	147372	CCBE1	OMIM:235510
HP:0000319	Smooth philtrum	6595	SMARCA2	OMIM:601358
HP:0000319	Smooth philtrum	6595	SMARCA2	ORPHA:3051
HP:0000319	Smooth philtrum	10533	ATG7	OMIM:619422
HP:0000319	Smooth philtrum	8295	TRRAP	OMIM:618454
HP:0000319	Smooth philtrum	9742	IFT140	OMIM:266920
HP:0000319	Smooth philtrum	54903	MKS1	OMIM:249000
HP:0000319	Smooth philtrum	8621	CDK13	OMIM:617360
HP:0000319	Smooth philtrum	583	BBS2	OMIM:615981
HP:0000319	Smooth philtrum	2703	GJA8	OMIM:612474
HP:0000319	Smooth philtrum	2702	GJA5	OMIM:612474
HP:0000319	Smooth philtrum	4212	MEIS2	ORPHA:261190
HP:0000319	Smooth philtrum	22907	DHX30	OMIM:617804
HP:0000319	Smooth philtrum	51013	EXOSC1	OMIM:619304
HP:0000319	Smooth philtrum	5908	RAP1B	OMIM:620654
HP:0000319	Smooth philtrum	55770	EXOC2	OMIM:619306
HP:0000319	Smooth philtrum	7227	TRPS1	OMIM:190351
HP:0000319	Smooth philtrum	5910	RAP1GDS1	OMIM:620655
HP:0000319	Smooth philtrum	6857	SYT1	OMIM:618218
HP:0000319	Smooth philtrum	6857	SYT1	ORPHA:522077
HP:0000319	Smooth philtrum	81603	TRIM8	OMIM:619428
HP:0000319	Smooth philtrum	3720	JARID2	OMIM:620098
HP:0000319	Smooth philtrum	3480	IGF1R	ORPHA:73273
HP:0000319	Smooth philtrum	3480	IGF1R	OMIM:270450
HP:0000319	Smooth philtrum	9488	PIGB	OMIM:618580
HP:0000319	Smooth philtrum	91949	COG7	OMIM:608779
HP:0000319	Smooth philtrum	1281	COL3A1	OMIM:618343
HP:0000319	Smooth philtrum	54517	PUS7	OMIM:618342
HP:0000319	Smooth philtrum	10765	KDM5B	OMIM:618109
HP:0000319	Smooth philtrum	8573	CASK	OMIM:300749
HP:0000319	Smooth philtrum	57122	NUP107	OMIM:618348
HP:0000319	Smooth philtrum	57122	NUP107	OMIM:616730
HP:0000319	Smooth philtrum	128869	PIGU	OMIM:618590
HP:0000319	Smooth philtrum	7707	ZNF148	OMIM:617260
HP:0000319	Smooth philtrum	221496	LEMD2	OMIM:619322
HP:0000319	Smooth philtrum	4854	NOTCH3	OMIM:130720
HP:0000319	Smooth philtrum	4854	NOTCH3	ORPHA:2789
HP:0000319	Smooth philtrum	8882	ZPR1	OMIM:619321
HP:0000319	Smooth philtrum	473	RERE	OMIM:616975
HP:0000319	Smooth philtrum	10157	AASS	ORPHA:2203
HP:0000319	Smooth philtrum	23524	SRRM2	OMIM:620439
HP:0000319	Smooth philtrum	998	CDC42	OMIM:616737
HP:0000319	Smooth philtrum	998	CDC42	ORPHA:487796
HP:0000319	Smooth philtrum	4081	MAB21L1	OMIM:618479
HP:0000319	Smooth philtrum	9126	SMC3	OMIM:610759
HP:0000319	Smooth philtrum	54808	DYM	OMIM:223800
HP:0000319	Smooth philtrum	64135	IFIH1	OMIM:182250
HP:0000319	Smooth philtrum	1725	DHPS	OMIM:618480
HP:0000319	Smooth philtrum	10735	STAG2	OMIM:301022
HP:0000319	Smooth philtrum	23221	RHOBTB2	OMIM:618004
HP:0000319	Smooth philtrum	55906	ZC4H2	OMIM:314580
HP:0000319	Smooth philtrum	10265	IRX5	OMIM:611174
HP:0000319	Smooth philtrum	201163	FLCN	OMIM:610883
HP:0000319	Smooth philtrum	9675	TTI1	OMIM:620445
HP:0000319	Smooth philtrum	29920	PYCR2	ORPHA:481152
HP:0000319	Smooth philtrum	29920	PYCR2	OMIM:616420
HP:0000319	Smooth philtrum	3183	HNRNPC	OMIM:620688
HP:0000319	Smooth philtrum	9969	MED13	OMIM:618009
HP:0000319	Smooth philtrum	1000	CDH2	OMIM:618929
HP:0000319	Smooth philtrum	22827	PUF60	ORPHA:508488
HP:0000319	Smooth philtrum	10943	MSL3	OMIM:301032
HP:0000319	Smooth philtrum	84188	FAR1	ORPHA:438178
HP:0000319	Smooth philtrum	25	ABL1	OMIM:617602
HP:0000319	Smooth philtrum	2475	MTOR	OMIM:616638
HP:0000319	Smooth philtrum	5000	ORC4	OMIM:613800
HP:0000319	Smooth philtrum	6304	SATB1	OMIM:619229
HP:0000319	Smooth philtrum	2313	FLI1	ORPHA:2308
HP:0000319	Smooth philtrum	6874	TAF4	OMIM:620450
HP:0000319	Smooth philtrum	8943	AP3D1	OMIM:617050
HP:0000319	Smooth philtrum	84265	POLR3GL	OMIM:619234
HP:0000319	Smooth philtrum	2290	FOXG1	ORPHA:261144
HP:0000319	Smooth philtrum	6711	SPTBN1	OMIM:619475
HP:0000319	Smooth philtrum	2033	EP300	OMIM:180849
HP:0000319	Smooth philtrum	1387	CREBBP	OMIM:180849
HP:0000319	Smooth philtrum	1859	DYRK1A	OMIM:614104
HP:0000319	Smooth philtrum	29957	SLC25A24	OMIM:612289
HP:0000319	Smooth philtrum	91461	PKDCC	OMIM:618821
HP:0000319	Smooth philtrum	25914	RTTN	ORPHA:468631
HP:0000319	Smooth philtrum	8405	SPOP	OMIM:618828
HP:0000319	Smooth philtrum	63932	STEEP1	OMIM:301013
HP:0000319	Smooth philtrum	10682	EBP	OMIM:300960
HP:0000319	Smooth philtrum	23556	PIGN	ORPHA:280633
HP:0000319	Smooth philtrum	5290	PIK3CA	OMIM:602501
HP:0000319	Smooth philtrum	2571	GAD1	OMIM:619124
HP:0000319	Smooth philtrum	374879	ZNF699	OMIM:619488
HP:0000319	Smooth philtrum	55617	TASP1	OMIM:618950
HP:0000319	Smooth philtrum	2316	FLNA	OMIM:300048
HP:0000319	Smooth philtrum	8239	USP9X	OMIM:300968
HP:0000319	Smooth philtrum	54870	QRICH1	OMIM:617982
HP:0000319	Smooth philtrum	29123	ANKRD11	ORPHA:261250
HP:0000319	Smooth philtrum	9373	PLAA	ORPHA:521426
HP:0000319	Smooth philtrum	9373	PLAA	OMIM:617527
HP:0000319	Smooth philtrum	5500	PPP1CB	OMIM:617506
HP:0000319	Smooth philtrum	118924	FRA10AC1	OMIM:620113
HP:0000319	Smooth philtrum	4094	MAF	OMIM:601088
HP:0000319	Smooth philtrum	54888	NSUN2	OMIM:611091
HP:0000319	Smooth philtrum	9320	TRIP12	OMIM:617752
HP:0000319	Smooth philtrum	523	ATP6V1A	ORPHA:357074
HP:0000319	Smooth philtrum	529	ATP6V1E1	ORPHA:357074
HP:0000319	Smooth philtrum	10020	GNE	OMIM:269921
HP:0000319	Smooth philtrum	10020	GNE	ORPHA:3166
HP:0000319	Smooth philtrum	6651	SON	ORPHA:500150
HP:0000319	Smooth philtrum	25974	MMACHC	ORPHA:79282
HP:0000319	Smooth philtrum	25974	MMACHC	OMIM:277400
HP:0000319	Smooth philtrum	5557	PRIM1	OMIM:620005
HP:0000319	Smooth philtrum	10225	CD96	ORPHA:1308
HP:0000319	Smooth philtrum	55901	THSD1	OMIM:620244
HP:0000319	Smooth philtrum	10079	ATP9A	OMIM:620242
HP:0000319	Smooth philtrum	2801	GOLGA2	OMIM:620240
HP:0000319	Smooth philtrum	5965	RECQL	OMIM:620370
HP:0000319	Smooth philtrum	55181	SMG8	OMIM:619268
HP:0000319	Smooth philtrum	55331	ACER3	OMIM:617762
HP:0000319	Smooth philtrum	92935	MARS2	OMIM:616430
HP:0000319	Smooth philtrum	7043	TGFB3	OMIM:615582
HP:0000319	Smooth philtrum	7543	ZFX	OMIM:301118
HP:0000319	Smooth philtrum	57728	WDR19	OMIM:614378
HP:0000319	Smooth philtrum	10844	TUBGCP2	OMIM:618737
HP:0000319	Smooth philtrum	1460	CSNK2B	OMIM:618732
HP:0000319	Smooth philtrum	4654	MYOD1	OMIM:618975
HP:0000319	Smooth philtrum	5052	PRDX1	OMIM:277400
HP:0000319	Smooth philtrum	90952	ESAM	OMIM:620371
HP:0000319	Smooth philtrum	8085	KMT2D	OMIM:147920
HP:0000319	Smooth philtrum	7403	KDM6A	OMIM:147920
HP:0004664	Facial midline hemangioma	1836	SLC26A2	ORPHA:56304
HP:0004661	Frontalis muscle weakness	60482	SLC5A7	ORPHA:98914
HP:0004661	Frontalis muscle weakness	4649	MYO9A	ORPHA:98914
HP:0004661	Frontalis muscle weakness	1305	COL13A1	ORPHA:98914
HP:0004661	Frontalis muscle weakness	1103	CHAT	ORPHA:98914
HP:0004661	Frontalis muscle weakness	6576	SLC25A1	ORPHA:98914
HP:0004661	Frontalis muscle weakness	6843	VAMP1	ORPHA:98914
HP:0004661	Frontalis muscle weakness	375790	AGRN	ORPHA:98914
HP:0004661	Frontalis muscle weakness	127833	SYT2	ORPHA:98914
HP:0004661	Frontalis muscle weakness	6572	SLC18A3	ORPHA:98914
HP:0004661	Frontalis muscle weakness	6616	SNAP25	ORPHA:98914
HP:0004660	Hypoplasia of facial musculature	10992	SF3B2	OMIM:164210
HP:0009891	Underdeveloped supraorbital ridges	3981	LIG4	ORPHA:235
HP:0009891	Underdeveloped supraorbital ridges	54888	NSUN2	ORPHA:235
HP:0009891	Underdeveloped supraorbital ridges	29957	SLC25A24	ORPHA:2095
HP:0009891	Underdeveloped supraorbital ridges	29957	SLC25A24	OMIM:612289
HP:0009891	Underdeveloped supraorbital ridges	8216	LZTR1	OMIM:616564
HP:0009891	Underdeveloped supraorbital ridges	8216	LZTR1	OMIM:605275
HP:0009891	Underdeveloped supraorbital ridges	5648	MASP1	OMIM:257920
HP:0009891	Underdeveloped supraorbital ridges	673	BRAF	OMIM:115150
HP:0009891	Underdeveloped supraorbital ridges	673	BRAF	ORPHA:1340
HP:0009891	Underdeveloped supraorbital ridges	8405	SPOP	OMIM:618828
HP:0009891	Underdeveloped supraorbital ridges	157570	ESCO2	ORPHA:3103
HP:0009891	Underdeveloped supraorbital ridges	5293	PIK3CD	ORPHA:221139
HP:0009891	Underdeveloped supraorbital ridges	5293	PIK3CD	OMIM:613328
HP:0009891	Underdeveloped supraorbital ridges	90417	KNSTRN	ORPHA:221139
HP:0009891	Underdeveloped supraorbital ridges	90417	KNSTRN	OMIM:613328
HP:0009891	Underdeveloped supraorbital ridges	4758	NEU1	ORPHA:93399
HP:0009891	Underdeveloped supraorbital ridges	4758	NEU1	ORPHA:93400
HP:0009891	Underdeveloped supraorbital ridges	2702	GJA5	ORPHA:3303
HP:0009891	Underdeveloped supraorbital ridges	1482	NKX2-5	ORPHA:3303
HP:0009891	Underdeveloped supraorbital ridges	137814	NKX2-6	ORPHA:3303
HP:0009891	Underdeveloped supraorbital ridges	23414	ZFPM2	ORPHA:3303
HP:0009891	Underdeveloped supraorbital ridges	2626	GATA4	ORPHA:3303
HP:0009891	Underdeveloped supraorbital ridges	3791	KDR	ORPHA:3303
HP:0009891	Underdeveloped supraorbital ridges	2627	GATA6	ORPHA:3303
HP:0009891	Underdeveloped supraorbital ridges	2657	GDF1	ORPHA:3303
HP:0009891	Underdeveloped supraorbital ridges	182	JAG1	ORPHA:3303
HP:0009891	Underdeveloped supraorbital ridges	6899	TBX1	ORPHA:3303
HP:0009891	Underdeveloped supraorbital ridges	140628	GATA5	ORPHA:3303
HP:0009891	Underdeveloped supraorbital ridges	2324	FLT4	ORPHA:3303
HP:0009891	Underdeveloped supraorbital ridges	10370	CITED2	ORPHA:3303
HP:0009891	Underdeveloped supraorbital ridges	5727	PTCH1	OMIM:610828
HP:0009891	Underdeveloped supraorbital ridges	51715	RAB23	OMIM:201000
HP:0009891	Underdeveloped supraorbital ridges	3832	KIF11	ORPHA:2526
HP:0009891	Underdeveloped supraorbital ridges	2263	FGFR2	OMIM:123790
HP:0009891	Underdeveloped supraorbital ridges	2263	FGFR2	ORPHA:1540
HP:0009891	Underdeveloped supraorbital ridges	8241	RBM10	ORPHA:2886
HP:0009891	Underdeveloped supraorbital ridges	8241	RBM10	OMIM:311900
HP:0009891	Underdeveloped supraorbital ridges	23387	SIK3	OMIM:618162
HP:0009891	Underdeveloped supraorbital ridges	3039	HBA1	ORPHA:98791
HP:0009891	Underdeveloped supraorbital ridges	3040	HBA2	ORPHA:98791
HP:0009891	Underdeveloped supraorbital ridges	54496	PRMT7	OMIM:617157
HP:0009891	Underdeveloped supraorbital ridges	9652	SKIC3	OMIM:222470
HP:0009891	Underdeveloped supraorbital ridges	5604	MAP2K1	ORPHA:1340
HP:0009891	Underdeveloped supraorbital ridges	5605	MAP2K2	ORPHA:1340
HP:0009891	Underdeveloped supraorbital ridges	3845	KRAS	ORPHA:1340
HP:0009891	Underdeveloped supraorbital ridges	4733	DRG1	OMIM:620641
HP:0009891	Underdeveloped supraorbital ridges	129285	PPP1R21	OMIM:619383
HP:0009891	Underdeveloped supraorbital ridges	83696	TRAPPC9	ORPHA:352530
HP:0009891	Underdeveloped supraorbital ridges	1954	MEGF8	OMIM:614976
HP:0009891	Underdeveloped supraorbital ridges	4654	MYOD1	OMIM:618975
HP:0009891	Underdeveloped supraorbital ridges	84168	ANTXR1	ORPHA:2067
HP:0009891	Underdeveloped supraorbital ridges	6664	SOX11	OMIM:615866
HP:0009891	Underdeveloped supraorbital ridges	55670	PEX26	ORPHA:912
HP:0009891	Underdeveloped supraorbital ridges	5824	PEX19	ORPHA:912
HP:0009891	Underdeveloped supraorbital ridges	5828	PEX2	ORPHA:912
HP:0009891	Underdeveloped supraorbital ridges	8504	PEX3	ORPHA:912
HP:0009891	Underdeveloped supraorbital ridges	8799	PEX11B	ORPHA:912
HP:0009891	Underdeveloped supraorbital ridges	9409	PEX16	ORPHA:912
HP:0009891	Underdeveloped supraorbital ridges	5190	PEX6	ORPHA:912
HP:0009891	Underdeveloped supraorbital ridges	5830	PEX5	ORPHA:912
HP:0009891	Underdeveloped supraorbital ridges	5189	PEX1	ORPHA:912
HP:0009891	Underdeveloped supraorbital ridges	5193	PEX12	ORPHA:912
HP:0009891	Underdeveloped supraorbital ridges	5194	PEX13	ORPHA:912
HP:0009891	Underdeveloped supraorbital ridges	5195	PEX14	ORPHA:912
HP:0009891	Underdeveloped supraorbital ridges	5192	PEX10	ORPHA:912
HP:0009891	Underdeveloped supraorbital ridges	2690	GHR	ORPHA:633
HP:0009891	Underdeveloped supraorbital ridges	7291	TWIST1	ORPHA:35099
HP:0009891	Underdeveloped supraorbital ridges	2261	FGFR3	ORPHA:35099
HP:0009891	Underdeveloped supraorbital ridges	6938	TCF12	ORPHA:35099
HP:0009891	Underdeveloped supraorbital ridges	7545	ZIC1	ORPHA:35099
HP:0030787	Cerumen abnormality	3081	HGD	OMIM:203500
HP:0001412	Enteroviral hepatitis	695	BTK	OMIM:300755
HP:0001412	Enteroviral hepatitis	695	BTK	OMIM:307200
HP:0001413	Micronodular cirrhosis	10159	ATP6AP2	OMIM:301045
HP:0001413	Micronodular cirrhosis	4233	MET	OMIM:114550
HP:0001413	Micronodular cirrhosis	1499	CTNNB1	OMIM:114550
HP:0001413	Micronodular cirrhosis	8312	AXIN1	OMIM:114550
HP:0001413	Micronodular cirrhosis	324	APC	OMIM:114550
HP:0001413	Micronodular cirrhosis	5157	PDGFRL	OMIM:114550
HP:0001413	Micronodular cirrhosis	5290	PIK3CA	OMIM:114550
HP:0001413	Micronodular cirrhosis	3482	IGF2R	OMIM:114550
HP:0001413	Micronodular cirrhosis	841	CASP8	OMIM:114550
HP:0001413	Micronodular cirrhosis	7157	TP53	OMIM:114550
HP:0001413	Micronodular cirrhosis	11277	TREX1	OMIM:192315
HP:0001413	Micronodular cirrhosis	5277	PIGA	OMIM:300868
HP:0001413	Micronodular cirrhosis	55532	SLC30A10	ORPHA:309854
HP:0001413	Micronodular cirrhosis	51099	ABHD5	ORPHA:98907
HP:0001413	Micronodular cirrhosis	84936	ZFYVE19	OMIM:619849
HP:0001413	Micronodular cirrhosis	4358	MPV17	OMIM:256810
HP:0001413	Micronodular cirrhosis	383	ARG1	OMIM:207800
HP:0001413	Micronodular cirrhosis	9371	KIF3B	OMIM:618955
HP:0001413	Micronodular cirrhosis	3875	KRT18	OMIM:215600
HP:0001413	Micronodular cirrhosis	5428	POLG	OMIM:203700
HP:0001413	Micronodular cirrhosis	55768	NGLY1	ORPHA:404454
HP:0001413	Micronodular cirrhosis	6888	TALDO1	OMIM:606003
HP:0001413	Micronodular cirrhosis	1716	DGUOK	OMIM:251880
HP:0001414	Microvesicular hepatic steatosis	10165	SLC25A13	OMIM:605814
HP:0001414	Microvesicular hepatic steatosis	27183	VPS4A	OMIM:619273
HP:0001414	Microvesicular hepatic steatosis	10128	LRPPRC	OMIM:220111
HP:0001414	Microvesicular hepatic steatosis	55898	UNC45A	OMIM:619377
HP:0001414	Microvesicular hepatic steatosis	55687	TRMU	OMIM:613070
HP:0001414	Microvesicular hepatic steatosis	374354	NHLRC2	OMIM:618278
HP:0001414	Microvesicular hepatic steatosis	57128	LYRM4	OMIM:615595
HP:0001414	Microvesicular hepatic steatosis	5277	PIGA	OMIM:300868
HP:0001414	Microvesicular hepatic steatosis	65080	MRPL44	OMIM:615395
HP:0001414	Microvesicular hepatic steatosis	79587	CARS2	OMIM:616672
HP:0001414	Microvesicular hepatic steatosis	7019	TFAM	OMIM:617156
HP:0001414	Microvesicular hepatic steatosis	8260	NAA10	OMIM:300855
HP:0001414	Microvesicular hepatic steatosis	8565	YARS1	OMIM:619418
HP:0001414	Microvesicular hepatic steatosis	11232	POLG2	OMIM:618528
HP:0001414	Microvesicular hepatic steatosis	131118	DNAJC19	OMIM:610198
HP:0001414	Microvesicular hepatic steatosis	131118	DNAJC19	ORPHA:66634
HP:0001414	Microvesicular hepatic steatosis	4358	MPV17	OMIM:256810
HP:0001414	Microvesicular hepatic steatosis	54543	TOMM7	OMIM:620601
HP:0001414	Microvesicular hepatic steatosis	28976	ACAD9	OMIM:611126
HP:0001414	Microvesicular hepatic steatosis	5428	POLG	OMIM:203700
HP:0001414	Microvesicular hepatic steatosis	55768	NGLY1	ORPHA:404454
HP:0001414	Microvesicular hepatic steatosis	617	BCS1L	OMIM:124000
HP:0001414	Microvesicular hepatic steatosis	6584	SLC22A5	OMIM:212140
HP:0000006	Autosomal dominant inheritance	3858	KRT10	OMIM:607602
HP:0000006	Autosomal dominant inheritance	3858	KRT10	OMIM:609165
HP:0000006	Autosomal dominant inheritance	3858	KRT10	OMIM:620150
HP:0000006	Autosomal dominant inheritance	3858	KRT10	OMIM:146600
HP:0000006	Autosomal dominant inheritance	8216	LZTR1	OMIM:616564
HP:0000006	Autosomal dominant inheritance	8216	LZTR1	OMIM:615670
HP:0000006	Autosomal dominant inheritance	8216	LZTR1	OMIM:605275
HP:0000006	Autosomal dominant inheritance	4750	NEK1	OMIM:617892
HP:0000006	Autosomal dominant inheritance	392255	GDF6	OMIM:617898
HP:0000006	Autosomal dominant inheritance	392255	GDF6	OMIM:118100
HP:0000006	Autosomal dominant inheritance	392255	GDF6	OMIM:613094
HP:0000006	Autosomal dominant inheritance	392255	GDF6	OMIM:613703
HP:0000006	Autosomal dominant inheritance	161582	DNAAF4	OMIM:127700
HP:0000006	Autosomal dominant inheritance	55240	STEAP3	OMIM:615234
HP:0000006	Autosomal dominant inheritance	3910	LAMA4	OMIM:615235
HP:0000006	Autosomal dominant inheritance	1134	CHRNA1	OMIM:608930
HP:0000006	Autosomal dominant inheritance	1134	CHRNA1	OMIM:601462
HP:0000006	Autosomal dominant inheritance	5781	PTPN11	OMIM:156250
HP:0000006	Autosomal dominant inheritance	5781	PTPN11	OMIM:151100
HP:0000006	Autosomal dominant inheritance	5781	PTPN11	OMIM:607785
HP:0000006	Autosomal dominant inheritance	5781	PTPN11	OMIM:163950
HP:0000006	Autosomal dominant inheritance	149775	GNAS-AS1	OMIM:603233
HP:0000006	Autosomal dominant inheritance	2778	GNAS	OMIM:603233
HP:0000006	Autosomal dominant inheritance	2778	GNAS	OMIM:166350
HP:0000006	Autosomal dominant inheritance	2778	GNAS	OMIM:612463
HP:0000006	Autosomal dominant inheritance	2778	GNAS	OMIM:612462
HP:0000006	Autosomal dominant inheritance	2778	GNAS	OMIM:103580
HP:0000006	Autosomal dominant inheritance	8675	STX16	OMIM:603233
HP:0000006	Autosomal dominant inheritance	1421	CRYGD	OMIM:115700
HP:0000006	Autosomal dominant inheritance	201163	FLCN	OMIM:173600
HP:0000006	Autosomal dominant inheritance	201163	FLCN	OMIM:114500
HP:0000006	Autosomal dominant inheritance	201163	FLCN	OMIM:135150
HP:0000006	Autosomal dominant inheritance	283489	CHAMP1	OMIM:616579
HP:0000006	Autosomal dominant inheritance	477	ATP1A2	OMIM:619605
HP:0000006	Autosomal dominant inheritance	477	ATP1A2	OMIM:104290
HP:0000006	Autosomal dominant inheritance	477	ATP1A2	OMIM:602481
HP:0000006	Autosomal dominant inheritance	84665	MYPN	OMIM:615248
HP:0000006	Autosomal dominant inheritance	478	ATP1A3	OMIM:619606
HP:0000006	Autosomal dominant inheritance	478	ATP1A3	OMIM:128235
HP:0000006	Autosomal dominant inheritance	478	ATP1A3	OMIM:601338
HP:0000006	Autosomal dominant inheritance	478	ATP1A3	OMIM:614820
HP:0000006	Autosomal dominant inheritance	4790	NFKB1	OMIM:616576
HP:0000006	Autosomal dominant inheritance	54795	TRPM4	OMIM:604559
HP:0000006	Autosomal dominant inheritance	54795	TRPM4	OMIM:618531
HP:0000006	Autosomal dominant inheritance	3190	HNRNPK	OMIM:616580
HP:0000006	Autosomal dominant inheritance	653509	SFTPA1	OMIM:619611
HP:0000006	Autosomal dominant inheritance	657	BMPR1A	OMIM:174900
HP:0000006	Autosomal dominant inheritance	657	BMPR1A	OMIM:610069
HP:0000006	Autosomal dominant inheritance	4089	SMAD4	OMIM:174900
HP:0000006	Autosomal dominant inheritance	4089	SMAD4	OMIM:139210
HP:0000006	Autosomal dominant inheritance	4089	SMAD4	OMIM:260350
HP:0000006	Autosomal dominant inheritance	4089	SMAD4	OMIM:175050
HP:0000006	Autosomal dominant inheritance	1280	COL2A1	OMIM:616583
HP:0000006	Autosomal dominant inheritance	1280	COL2A1	OMIM:608805
HP:0000006	Autosomal dominant inheritance	1280	COL2A1	OMIM:184255
HP:0000006	Autosomal dominant inheritance	1280	COL2A1	OMIM:184250
HP:0000006	Autosomal dominant inheritance	1280	COL2A1	OMIM:132450
HP:0000006	Autosomal dominant inheritance	1280	COL2A1	OMIM:609162
HP:0000006	Autosomal dominant inheritance	1280	COL2A1	OMIM:183900
HP:0000006	Autosomal dominant inheritance	1280	COL2A1	OMIM:619248
HP:0000006	Autosomal dominant inheritance	1280	COL2A1	OMIM:604864
HP:0000006	Autosomal dominant inheritance	1280	COL2A1	OMIM:156550
HP:0000006	Autosomal dominant inheritance	1280	COL2A1	OMIM:151210
HP:0000006	Autosomal dominant inheritance	1280	COL2A1	OMIM:200610
HP:0000006	Autosomal dominant inheritance	1280	COL2A1	OMIM:150600
HP:0000006	Autosomal dominant inheritance	1280	COL2A1	OMIM:271700
HP:0000006	Autosomal dominant inheritance	1280	COL2A1	OMIM:108300
HP:0000006	Autosomal dominant inheritance	1280	COL2A1	OMIM:609508
HP:0000006	Autosomal dominant inheritance	2261	FGFR3	OMIM:146000
HP:0000006	Autosomal dominant inheritance	2261	FGFR3	OMIM:616482
HP:0000006	Autosomal dominant inheritance	2261	FGFR3	OMIM:109800
HP:0000006	Autosomal dominant inheritance	2261	FGFR3	OMIM:187601
HP:0000006	Autosomal dominant inheritance	2261	FGFR3	OMIM:187600
HP:0000006	Autosomal dominant inheritance	2261	FGFR3	OMIM:114500
HP:0000006	Autosomal dominant inheritance	2261	FGFR3	OMIM:100800
HP:0000006	Autosomal dominant inheritance	2261	FGFR3	OMIM:620192
HP:0000006	Autosomal dominant inheritance	2261	FGFR3	OMIM:602849
HP:0000006	Autosomal dominant inheritance	2261	FGFR3	OMIM:610474
HP:0000006	Autosomal dominant inheritance	2261	FGFR3	OMIM:612247
HP:0000006	Autosomal dominant inheritance	54567	DLL4	OMIM:616589
HP:0000006	Autosomal dominant inheritance	55366	LGR4	OMIM:619613
HP:0000006	Autosomal dominant inheritance	2078	ERG	OMIM:620602
HP:0000006	Autosomal dominant inheritance	7010	TEK	OMIM:600195
HP:0000006	Autosomal dominant inheritance	7010	TEK	OMIM:617272
HP:0000006	Autosomal dominant inheritance	5621	PRNP	OMIM:603218
HP:0000006	Autosomal dominant inheritance	5621	PRNP	OMIM:600072
HP:0000006	Autosomal dominant inheritance	5621	PRNP	OMIM:123400
HP:0000006	Autosomal dominant inheritance	5621	PRNP	OMIM:606688
HP:0000006	Autosomal dominant inheritance	5621	PRNP	OMIM:137440
HP:0000006	Autosomal dominant inheritance	7490	WT1	OMIM:136680
HP:0000006	Autosomal dominant inheritance	7490	WT1	OMIM:608978
HP:0000006	Autosomal dominant inheritance	7490	WT1	OMIM:256370
HP:0000006	Autosomal dominant inheritance	7490	WT1	OMIM:106210
HP:0000006	Autosomal dominant inheritance	7490	WT1	OMIM:194080
HP:0000006	Autosomal dominant inheritance	7490	WT1	OMIM:194072
HP:0000006	Autosomal dominant inheritance	7490	WT1	OMIM:194070
HP:0000006	Autosomal dominant inheritance	5159	PDGFRB	OMIM:616592
HP:0000006	Autosomal dominant inheritance	5159	PDGFRB	OMIM:615007
HP:0000006	Autosomal dominant inheritance	5159	PDGFRB	OMIM:228550
HP:0000006	Autosomal dominant inheritance	5159	PDGFRB	OMIM:213600
HP:0000006	Autosomal dominant inheritance	5159	PDGFRB	OMIM:601812
HP:0000006	Autosomal dominant inheritance	5159	PDGFRB	OMIM:131440
HP:0000006	Autosomal dominant inheritance	64121	RRAGC	OMIM:620609
HP:0000006	Autosomal dominant inheritance	9997	SCO2	OMIM:608908
HP:0000006	Autosomal dominant inheritance	81848	SPRY4	OMIM:615266
HP:0000006	Autosomal dominant inheritance	10347	ABCA7	OMIM:608907
HP:0000006	Autosomal dominant inheritance	1848	DUSP6	OMIM:615269
HP:0000006	Autosomal dominant inheritance	54756	IL17RD	OMIM:615267
HP:0000006	Autosomal dominant inheritance	1111	CHEK1	OMIM:620610
HP:0000006	Autosomal dominant inheritance	54345	SOX18	OMIM:137940
HP:0000006	Autosomal dominant inheritance	59341	TRPV4	OMIM:600175
HP:0000006	Autosomal dominant inheritance	59341	TRPV4	OMIM:184252
HP:0000006	Autosomal dominant inheritance	59341	TRPV4	OMIM:181405
HP:0000006	Autosomal dominant inheritance	59341	TRPV4	OMIM:168400
HP:0000006	Autosomal dominant inheritance	59341	TRPV4	OMIM:606835
HP:0000006	Autosomal dominant inheritance	59341	TRPV4	OMIM:606071
HP:0000006	Autosomal dominant inheritance	59341	TRPV4	OMIM:113500
HP:0000006	Autosomal dominant inheritance	59341	TRPV4	OMIM:156530
HP:0000006	Autosomal dominant inheritance	59341	TRPV4	OMIM:617383
HP:0000006	Autosomal dominant inheritance	59341	TRPV4	OMIM:184095
HP:0000006	Autosomal dominant inheritance	8822	FGF17	OMIM:615270
HP:0000006	Autosomal dominant inheritance	23767	FLRT3	OMIM:615271
HP:0000006	Autosomal dominant inheritance	4284	MIP	OMIM:615274
HP:0000006	Autosomal dominant inheritance	3845	KRAS	OMIM:615278
HP:0000006	Autosomal dominant inheritance	3845	KRAS	OMIM:114480
HP:0000006	Autosomal dominant inheritance	3845	KRAS	OMIM:109800
HP:0000006	Autosomal dominant inheritance	3845	KRAS	OMIM:609942
HP:0000006	Autosomal dominant inheritance	3845	KRAS	OMIM:614470
HP:0000006	Autosomal dominant inheritance	3845	KRAS	OMIM:211980
HP:0000006	Autosomal dominant inheritance	3845	KRAS	OMIM:260350
HP:0000006	Autosomal dominant inheritance	3845	KRAS	OMIM:600268
HP:0000006	Autosomal dominant inheritance	3845	KRAS	OMIM:601626
HP:0000006	Autosomal dominant inheritance	5604	MAP2K1	OMIM:615279
HP:0000006	Autosomal dominant inheritance	5604	MAP2K1	OMIM:163950
HP:0000006	Autosomal dominant inheritance	79719	AAGAB	OMIM:148600
HP:0000006	Autosomal dominant inheritance	1311	COMP	OMIM:177170
HP:0000006	Autosomal dominant inheritance	1311	COMP	OMIM:132400
HP:0000006	Autosomal dominant inheritance	1311	COMP	OMIM:619161
HP:0000006	Autosomal dominant inheritance	5605	MAP2K2	OMIM:615280
HP:0000006	Autosomal dominant inheritance	6141	RPL18	OMIM:618310
HP:0000006	Autosomal dominant inheritance	11224	RPL35	OMIM:618312
HP:0000006	Autosomal dominant inheritance	3800	KIF5C	OMIM:615282
HP:0000006	Autosomal dominant inheritance	6210	RPS15A	OMIM:618313
HP:0000006	Autosomal dominant inheritance	4076	CAPRIN1	OMIM:620636
HP:0000006	Autosomal dominant inheritance	4076	CAPRIN1	OMIM:620782
HP:0000006	Autosomal dominant inheritance	476	ATP1A1	OMIM:618314
HP:0000006	Autosomal dominant inheritance	476	ATP1A1	OMIM:618036
HP:0000006	Autosomal dominant inheritance	11155	LDB3	OMIM:601493
HP:0000006	Autosomal dominant inheritance	11155	LDB3	OMIM:609452
HP:0000006	Autosomal dominant inheritance	7139	TNNT2	OMIM:601494
HP:0000006	Autosomal dominant inheritance	7139	TNNT2	OMIM:115195
HP:0000006	Autosomal dominant inheritance	7139	TNNT2	OMIM:612422
HP:0000006	Autosomal dominant inheritance	1910	EDNRB	OMIM:600155
HP:0000006	Autosomal dominant inheritance	1910	EDNRB	OMIM:277580
HP:0000006	Autosomal dominant inheritance	57609	DIP2B	OMIM:136630
HP:0000006	Autosomal dominant inheritance	6654	SOS1	OMIM:135300
HP:0000006	Autosomal dominant inheritance	6654	SOS1	OMIM:610733
HP:0000006	Autosomal dominant inheritance	23299	BICD2	OMIM:615290
HP:0000006	Autosomal dominant inheritance	23299	BICD2	OMIM:618291
HP:0000006	Autosomal dominant inheritance	1436	CSF1R	OMIM:221820
HP:0000006	Autosomal dominant inheritance	4854	NOTCH3	OMIM:615293
HP:0000006	Autosomal dominant inheritance	4854	NOTCH3	OMIM:125310
HP:0000006	Autosomal dominant inheritance	4854	NOTCH3	OMIM:130720
HP:0000006	Autosomal dominant inheritance	8200	GDF5	OMIM:615298
HP:0000006	Autosomal dominant inheritance	8200	GDF5	OMIM:112600
HP:0000006	Autosomal dominant inheritance	8200	GDF5	OMIM:113100
HP:0000006	Autosomal dominant inheritance	8200	GDF5	OMIM:615072
HP:0000006	Autosomal dominant inheritance	8200	GDF5	OMIM:610017
HP:0000006	Autosomal dominant inheritance	6329	SCN4A	OMIM:170500
HP:0000006	Autosomal dominant inheritance	6329	SCN4A	OMIM:170400
HP:0000006	Autosomal dominant inheritance	6329	SCN4A	OMIM:613345
HP:0000006	Autosomal dominant inheritance	6329	SCN4A	OMIM:168300
HP:0000006	Autosomal dominant inheritance	6329	SCN4A	OMIM:608390
HP:0000006	Autosomal dominant inheritance	859	CAV3	OMIM:123320
HP:0000006	Autosomal dominant inheritance	859	CAV3	OMIM:192600
HP:0000006	Autosomal dominant inheritance	859	CAV3	OMIM:606072
HP:0000006	Autosomal dominant inheritance	859	CAV3	OMIM:614321
HP:0000006	Autosomal dominant inheritance	859	CAV3	OMIM:611818
HP:0000006	Autosomal dominant inheritance	6240	RRM1	OMIM:620647
HP:0000006	Autosomal dominant inheritance	23499	MACF1	OMIM:618325
HP:0000006	Autosomal dominant inheritance	4087	SMAD2	OMIM:619656
HP:0000006	Autosomal dominant inheritance	4087	SMAD2	OMIM:619657
HP:0000006	Autosomal dominant inheritance	81839	VANGL1	OMIM:600145
HP:0000006	Autosomal dominant inheritance	81839	VANGL1	OMIM:182940
HP:0000006	Autosomal dominant inheritance	1387	CREBBP	OMIM:618332
HP:0000006	Autosomal dominant inheritance	1387	CREBBP	OMIM:180849
HP:0000006	Autosomal dominant inheritance	2033	EP300	OMIM:618333
HP:0000006	Autosomal dominant inheritance	2033	EP300	OMIM:114500
HP:0000006	Autosomal dominant inheritance	2033	EP300	OMIM:180849
HP:0000006	Autosomal dominant inheritance	2033	EP300	OMIM:613684
HP:0000006	Autosomal dominant inheritance	11231	SEC63	OMIM:617004
HP:0000006	Autosomal dominant inheritance	1523	CUX1	OMIM:618330
HP:0000006	Autosomal dominant inheritance	16	AARS1	OMIM:619661
HP:0000006	Autosomal dominant inheritance	16	AARS1	OMIM:613287
HP:0000006	Autosomal dominant inheritance	58495	OVOL2	OMIM:122000
HP:0000006	Autosomal dominant inheritance	4069	LYZ	OMIM:620658
HP:0000006	Autosomal dominant inheritance	567	B2M	OMIM:620659
HP:0000006	Autosomal dominant inheritance	335	APOA1	OMIM:620657
HP:0000006	Autosomal dominant inheritance	335	APOA1	OMIM:619836
HP:0000006	Autosomal dominant inheritance	5908	RAP1B	OMIM:620654
HP:0000006	Autosomal dominant inheritance	4023	LPL	OMIM:144250
HP:0000006	Autosomal dominant inheritance	2744	GLS	OMIM:618339
HP:0000006	Autosomal dominant inheritance	2617	GARS1	OMIM:601472
HP:0000006	Autosomal dominant inheritance	2617	GARS1	OMIM:600794
HP:0000006	Autosomal dominant inheritance	2617	GARS1	OMIM:619042
HP:0000006	Autosomal dominant inheritance	5309	PITX3	OMIM:107250
HP:0000006	Autosomal dominant inheritance	5309	PITX3	OMIM:610623
HP:0000006	Autosomal dominant inheritance	658	BMPR1B	OMIM:112600
HP:0000006	Autosomal dominant inheritance	658	BMPR1B	OMIM:616849
HP:0000006	Autosomal dominant inheritance	650	BMP2	OMIM:112600
HP:0000006	Autosomal dominant inheritance	650	BMP2	OMIM:617877
HP:0000006	Autosomal dominant inheritance	26121	PRPF31	OMIM:600138
HP:0000006	Autosomal dominant inheritance	4311	MME	OMIM:617018
HP:0000006	Autosomal dominant inheritance	4311	MME	OMIM:617017
HP:0000006	Autosomal dominant inheritance	2495	FTH1	OMIM:620669
HP:0000006	Autosomal dominant inheritance	2495	FTH1	OMIM:615517
HP:0000006	Autosomal dominant inheritance	5396	PRRX1	OMIM:202650
HP:0000006	Autosomal dominant inheritance	3659	IRF1	OMIM:620668
HP:0000006	Autosomal dominant inheritance	3659	IRF1	OMIM:211980
HP:0000006	Autosomal dominant inheritance	4001	LMNB1	OMIM:169500
HP:0000006	Autosomal dominant inheritance	4001	LMNB1	OMIM:619179
HP:0000006	Autosomal dominant inheritance	3857	KRT9	OMIM:144200
HP:0000006	Autosomal dominant inheritance	5575	PRKAR1B	OMIM:619680
HP:0000006	Autosomal dominant inheritance	5515	PPP2CA	OMIM:618354
HP:0000006	Autosomal dominant inheritance	5610	EIF2AK2	OMIM:619687
HP:0000006	Autosomal dominant inheritance	5610	EIF2AK2	OMIM:618877
HP:0000006	Autosomal dominant inheritance	6096	RORB	OMIM:618357
HP:0000006	Autosomal dominant inheritance	518	ATP5MC3	OMIM:619681
HP:0000006	Autosomal dominant inheritance	6598	SMARCB1	OMIM:162091
HP:0000006	Autosomal dominant inheritance	6598	SMARCB1	OMIM:609322
HP:0000006	Autosomal dominant inheritance	6598	SMARCB1	OMIM:614608
HP:0000006	Autosomal dominant inheritance	8912	CACNA1H	OMIM:617027
HP:0000006	Autosomal dominant inheritance	150	ADRA2A	OMIM:620679
HP:0000006	Autosomal dominant inheritance	29927	SEC61A1	OMIM:620674
HP:0000006	Autosomal dominant inheritance	29927	SEC61A1	OMIM:620670
HP:0000006	Autosomal dominant inheritance	29927	SEC61A1	OMIM:617056
HP:0000006	Autosomal dominant inheritance	999	CDH1	OMIM:608089
HP:0000006	Autosomal dominant inheritance	999	CDH1	OMIM:114480
HP:0000006	Autosomal dominant inheritance	999	CDH1	OMIM:167000
HP:0000006	Autosomal dominant inheritance	999	CDH1	OMIM:137215
HP:0000006	Autosomal dominant inheritance	999	CDH1	OMIM:119580
HP:0000006	Autosomal dominant inheritance	2956	MSH6	OMIM:608089
HP:0000006	Autosomal dominant inheritance	2956	MSH6	OMIM:614350
HP:0000006	Autosomal dominant inheritance	4437	MSH3	OMIM:608089
HP:0000006	Autosomal dominant inheritance	27030	MLH3	OMIM:608089
HP:0000006	Autosomal dominant inheritance	27030	MLH3	OMIM:114500
HP:0000006	Autosomal dominant inheritance	27030	MLH3	OMIM:614385
HP:0000006	Autosomal dominant inheritance	6785	ELOVL4	OMIM:600110
HP:0000006	Autosomal dominant inheritance	6785	ELOVL4	OMIM:133190
HP:0000006	Autosomal dominant inheritance	55777	MBD5	OMIM:156200
HP:0000006	Autosomal dominant inheritance	1145	CHRNE	OMIM:605809
HP:0000006	Autosomal dominant inheritance	6601	SMARCC2	OMIM:618362
HP:0000006	Autosomal dominant inheritance	6928	HNF1B	OMIM:137920
HP:0000006	Autosomal dominant inheritance	6928	HNF1B	OMIM:125853
HP:0000006	Autosomal dominant inheritance	92255	LMBRD2	OMIM:619694
HP:0000006	Autosomal dominant inheritance	7021	TFAP2B	OMIM:617035
HP:0000006	Autosomal dominant inheritance	7021	TFAP2B	OMIM:169100
HP:0000006	Autosomal dominant inheritance	7468	NSD2	OMIM:619695
HP:0000006	Autosomal dominant inheritance	7468	NSD2	OMIM:194190
HP:0000006	Autosomal dominant inheritance	6334	SCN8A	OMIM:618364
HP:0000006	Autosomal dominant inheritance	6334	SCN8A	OMIM:617080
HP:0000006	Autosomal dominant inheritance	6334	SCN8A	OMIM:614558
HP:0000006	Autosomal dominant inheritance	6334	SCN8A	OMIM:614306
HP:0000006	Autosomal dominant inheritance	93166	PRDM6	OMIM:617039
HP:0000006	Autosomal dominant inheritance	7157	TP53	OMIM:260500
HP:0000006	Autosomal dominant inheritance	7157	TP53	OMIM:114480
HP:0000006	Autosomal dominant inheritance	7157	TP53	OMIM:137800
HP:0000006	Autosomal dominant inheritance	7157	TP53	OMIM:618165
HP:0000006	Autosomal dominant inheritance	7157	TP53	OMIM:151623
HP:0000006	Autosomal dominant inheritance	7157	TP53	OMIM:114500
HP:0000006	Autosomal dominant inheritance	7157	TP53	OMIM:260350
HP:0000006	Autosomal dominant inheritance	7157	TP53	OMIM:202300
HP:0000006	Autosomal dominant inheritance	55107	ANO1	OMIM:620687
HP:0000006	Autosomal dominant inheritance	3183	HNRNPC	OMIM:620688
HP:0000006	Autosomal dominant inheritance	9132	KCNQ4	OMIM:600101
HP:0000006	Autosomal dominant inheritance	7703	PCGF2	OMIM:618371
HP:0000006	Autosomal dominant inheritance	6331	SCN5A	OMIM:113900
HP:0000006	Autosomal dominant inheritance	6331	SCN5A	OMIM:603830
HP:0000006	Autosomal dominant inheritance	6331	SCN5A	OMIM:601154
HP:0000006	Autosomal dominant inheritance	6331	SCN5A	OMIM:601144
HP:0000006	Autosomal dominant inheritance	6331	SCN5A	OMIM:614022
HP:0000006	Autosomal dominant inheritance	11342	RNF13	OMIM:618379
HP:0000006	Autosomal dominant inheritance	9935	MAFB	OMIM:617041
HP:0000006	Autosomal dominant inheritance	9935	MAFB	OMIM:166300
HP:0000006	Autosomal dominant inheritance	2318	FLNC	OMIM:617047
HP:0000006	Autosomal dominant inheritance	2318	FLNC	OMIM:614065
HP:0000006	Autosomal dominant inheritance	2318	FLNC	OMIM:609524
HP:0000006	Autosomal dominant inheritance	4761	NEUROD2	OMIM:618374
HP:0000006	Autosomal dominant inheritance	208	AKT2	OMIM:240900
HP:0000006	Autosomal dominant inheritance	208	AKT2	OMIM:125853
HP:0000006	Autosomal dominant inheritance	7291	TWIST1	OMIM:180750
HP:0000006	Autosomal dominant inheritance	7291	TWIST1	OMIM:617746
HP:0000006	Autosomal dominant inheritance	7291	TWIST1	OMIM:101400
HP:0000006	Autosomal dominant inheritance	7291	TWIST1	OMIM:123100
HP:0000006	Autosomal dominant inheritance	4210	MEFV	OMIM:608068
HP:0000006	Autosomal dominant inheritance	4210	MEFV	OMIM:134610
HP:0000006	Autosomal dominant inheritance	4035	LRP1	OMIM:620690
HP:0000006	Autosomal dominant inheritance	50801	KCNK4	OMIM:618381
HP:0000006	Autosomal dominant inheritance	54809	SAMD9	OMIM:617053
HP:0000006	Autosomal dominant inheritance	54809	SAMD9	OMIM:619041
HP:0000006	Autosomal dominant inheritance	8842	PROM1	OMIM:608051
HP:0000006	Autosomal dominant inheritance	8842	PROM1	OMIM:603786
HP:0000006	Autosomal dominant inheritance	8842	PROM1	OMIM:612657
HP:0000006	Autosomal dominant inheritance	1413	CRYBA4	OMIM:610425
HP:0000006	Autosomal dominant inheritance	5589	PRKCSH	OMIM:174050
HP:0000006	Autosomal dominant inheritance	128178	EDARADD	OMIM:129490
HP:0000006	Autosomal dominant inheritance	128178	EDARADD	OMIM:614940
HP:0000006	Autosomal dominant inheritance	10913	EDAR	OMIM:129490
HP:0000006	Autosomal dominant inheritance	57061	HYMAI	OMIM:601410
HP:0000006	Autosomal dominant inheritance	346171	ZFP57	OMIM:601410
HP:0000006	Autosomal dominant inheritance	1457	CSNK2A1	OMIM:617062
HP:0000006	Autosomal dominant inheritance	9129	PRPF3	OMIM:601414
HP:0000006	Autosomal dominant inheritance	7204	TRIO	OMIM:617061
HP:0000006	Autosomal dominant inheritance	7204	TRIO	OMIM:618825
HP:0000006	Autosomal dominant inheritance	4009	LMX1A	OMIM:601412
HP:0000006	Autosomal dominant inheritance	2324	FLT4	OMIM:153100
HP:0000006	Autosomal dominant inheritance	2324	FLT4	OMIM:618780
HP:0000006	Autosomal dominant inheritance	2324	FLT4	OMIM:602089
HP:0000006	Autosomal dominant inheritance	60468	BACH2	OMIM:618394
HP:0000006	Autosomal dominant inheritance	1674	DES	OMIM:601419
HP:0000006	Autosomal dominant inheritance	1674	DES	OMIM:181400
HP:0000006	Autosomal dominant inheritance	1674	DES	OMIM:604765
HP:0000006	Autosomal dominant inheritance	2566	GABRG2	OMIM:618396
HP:0000006	Autosomal dominant inheritance	2566	GABRG2	OMIM:607681
HP:0000006	Autosomal dominant inheritance	91662	NLRP12	OMIM:611762
HP:0000006	Autosomal dominant inheritance	5080	PAX6	OMIM:120200
HP:0000006	Autosomal dominant inheritance	5080	PAX6	OMIM:136520
HP:0000006	Autosomal dominant inheritance	5080	PAX6	OMIM:120430
HP:0000006	Autosomal dominant inheritance	5080	PAX6	OMIM:106210
HP:0000006	Autosomal dominant inheritance	5080	PAX6	OMIM:604229
HP:0000006	Autosomal dominant inheritance	5080	PAX6	OMIM:148190
HP:0000006	Autosomal dominant inheritance	5080	PAX6	OMIM:165550
HP:0000006	Autosomal dominant inheritance	5080	PAX6	OMIM:194072
HP:0000006	Autosomal dominant inheritance	50964	SOST	OMIM:122860
HP:0000006	Autosomal dominant inheritance	7480	WNT10B	OMIM:617073
HP:0000006	Autosomal dominant inheritance	4486	MST1R	OMIM:617075
HP:0000006	Autosomal dominant inheritance	2521	FUS	OMIM:608030
HP:0000006	Autosomal dominant inheritance	2521	FUS	OMIM:614782
HP:0000006	Autosomal dominant inheritance	1282	COL4A1	OMIM:611773
HP:0000006	Autosomal dominant inheritance	1282	COL4A1	OMIM:180000
HP:0000006	Autosomal dominant inheritance	1282	COL4A1	OMIM:175780
HP:0000006	Autosomal dominant inheritance	1282	COL4A1	OMIM:618564
HP:0000006	Autosomal dominant inheritance	284058	KANSL1	OMIM:610443
HP:0000006	Autosomal dominant inheritance	2779	GNAT1	OMIM:610444
HP:0000006	Autosomal dominant inheritance	6010	RHO	OMIM:610445
HP:0000006	Autosomal dominant inheritance	6010	RHO	OMIM:136880
HP:0000006	Autosomal dominant inheritance	6010	RHO	OMIM:613731
HP:0000006	Autosomal dominant inheritance	23171	GPD1L	OMIM:611777
HP:0000006	Autosomal dominant inheritance	11277	TREX1	OMIM:610448
HP:0000006	Autosomal dominant inheritance	11277	TREX1	OMIM:152700
HP:0000006	Autosomal dominant inheritance	11277	TREX1	OMIM:192315
HP:0000006	Autosomal dominant inheritance	11277	TREX1	OMIM:225750
HP:0000006	Autosomal dominant inheritance	5216	PFN1	OMIM:614808
HP:0000006	Autosomal dominant inheritance	81494	CFHR5	OMIM:614809
HP:0000006	Autosomal dominant inheritance	7474	WNT5A	OMIM:180700
HP:0000006	Autosomal dominant inheritance	1855	DVL1	OMIM:180700
HP:0000006	Autosomal dominant inheritance	1855	DVL1	OMIM:616331
HP:0000006	Autosomal dominant inheritance	124093	CCDC78	OMIM:614807
HP:0000006	Autosomal dominant inheritance	5903	RANBP2	OMIM:608033
HP:0000006	Autosomal dominant inheritance	79092	CARD14	OMIM:602723
HP:0000006	Autosomal dominant inheritance	79092	CARD14	OMIM:173200
HP:0000006	Autosomal dominant inheritance	1291	COL6A1	OMIM:158810
HP:0000006	Autosomal dominant inheritance	1291	COL6A1	OMIM:254090
HP:0000006	Autosomal dominant inheritance	5077	PAX3	OMIM:122880
HP:0000006	Autosomal dominant inheritance	5077	PAX3	OMIM:148820
HP:0000006	Autosomal dominant inheritance	5077	PAX3	OMIM:193500
HP:0000006	Autosomal dominant inheritance	2034	EPAS1	OMIM:611783
HP:0000006	Autosomal dominant inheritance	7042	TGFB2	OMIM:614816
HP:0000006	Autosomal dominant inheritance	59	ACTA2	OMIM:611788
HP:0000006	Autosomal dominant inheritance	59	ACTA2	OMIM:613834
HP:0000006	Autosomal dominant inheritance	59	ACTA2	OMIM:614042
HP:0000006	Autosomal dominant inheritance	3516	RBPJ	OMIM:614814
HP:0000006	Autosomal dominant inheritance	3852	KRT5	OMIM:609352
HP:0000006	Autosomal dominant inheritance	3852	KRT5	OMIM:619555
HP:0000006	Autosomal dominant inheritance	3852	KRT5	OMIM:619588
HP:0000006	Autosomal dominant inheritance	3852	KRT5	OMIM:619594
HP:0000006	Autosomal dominant inheritance	3852	KRT5	OMIM:131760
HP:0000006	Autosomal dominant inheritance	3852	KRT5	OMIM:179850
HP:0000006	Autosomal dominant inheritance	3852	KRT5	OMIM:131960
HP:0000006	Autosomal dominant inheritance	2294	FOXF1	OMIM:265380
HP:0000006	Autosomal dominant inheritance	773	CACNA1A	OMIM:183086
HP:0000006	Autosomal dominant inheritance	773	CACNA1A	OMIM:108500
HP:0000006	Autosomal dominant inheritance	773	CACNA1A	OMIM:141500
HP:0000006	Autosomal dominant inheritance	773	CACNA1A	OMIM:617106
HP:0000006	Autosomal dominant inheritance	2643	GCH1	OMIM:128230
HP:0000006	Autosomal dominant inheritance	5885	RAD21	OMIM:614701
HP:0000006	Autosomal dominant inheritance	6094	ROM1	OMIM:608133
HP:0000006	Autosomal dominant inheritance	6094	ROM1	OMIM:268000
HP:0000006	Autosomal dominant inheritance	5961	PRPH2	OMIM:608133
HP:0000006	Autosomal dominant inheritance	5961	PRPH2	OMIM:136880
HP:0000006	Autosomal dominant inheritance	5961	PRPH2	OMIM:613105
HP:0000006	Autosomal dominant inheritance	5961	PRPH2	OMIM:169150
HP:0000006	Autosomal dominant inheritance	5961	PRPH2	OMIM:608161
HP:0000006	Autosomal dominant inheritance	55811	ADCY10	OMIM:143870
HP:0000006	Autosomal dominant inheritance	5376	PMP22	OMIM:180800
HP:0000006	Autosomal dominant inheritance	5376	PMP22	OMIM:118220
HP:0000006	Autosomal dominant inheritance	5376	PMP22	OMIM:139393
HP:0000006	Autosomal dominant inheritance	5376	PMP22	OMIM:162500
HP:0000006	Autosomal dominant inheritance	5376	PMP22	OMIM:118300
HP:0000006	Autosomal dominant inheritance	5376	PMP22	OMIM:145900
HP:0000006	Autosomal dominant inheritance	4359	MPZ	OMIM:180800
HP:0000006	Autosomal dominant inheritance	4359	MPZ	OMIM:607677
HP:0000006	Autosomal dominant inheritance	4359	MPZ	OMIM:618184
HP:0000006	Autosomal dominant inheritance	4359	MPZ	OMIM:118200
HP:0000006	Autosomal dominant inheritance	4359	MPZ	OMIM:145900
HP:0000006	Autosomal dominant inheritance	4359	MPZ	OMIM:607791
HP:0000006	Autosomal dominant inheritance	4359	MPZ	OMIM:607736
HP:0000006	Autosomal dominant inheritance	727897	MUC5B	OMIM:178500
HP:0000006	Autosomal dominant inheritance	6440	SFTPC	OMIM:178500
HP:0000006	Autosomal dominant inheritance	6440	SFTPC	OMIM:610913
HP:0000006	Autosomal dominant inheritance	729238	SFTPA2	OMIM:178500
HP:0000006	Autosomal dominant inheritance	7015	TERT	OMIM:178500
HP:0000006	Autosomal dominant inheritance	7015	TERT	OMIM:614742
HP:0000006	Autosomal dominant inheritance	7015	TERT	OMIM:615134
HP:0000006	Autosomal dominant inheritance	7015	TERT	OMIM:613989
HP:0000006	Autosomal dominant inheritance	7015	TERT	OMIM:127550
HP:0000006	Autosomal dominant inheritance	7015	TERT	OMIM:601626
HP:0000006	Autosomal dominant inheritance	6311	ATXN2	OMIM:183090
HP:0000006	Autosomal dominant inheritance	6311	ATXN2	OMIM:168600
HP:0000006	Autosomal dominant inheritance	1135	CHRNA2	OMIM:610353
HP:0000006	Autosomal dominant inheritance	547	KIF1A	OMIM:610357
HP:0000006	Autosomal dominant inheritance	547	KIF1A	OMIM:614255
HP:0000006	Autosomal dominant inheritance	1286	COL4A4	OMIM:141200
HP:0000006	Autosomal dominant inheritance	23020	SNRNP200	OMIM:610359
HP:0000006	Autosomal dominant inheritance	4597	MVD	OMIM:614714
HP:0000006	Autosomal dominant inheritance	7780	SLC30A2	OMIM:608118
HP:0000006	Autosomal dominant inheritance	2483	FRG1	OMIM:158900
HP:0000006	Autosomal dominant inheritance	64324	NSD1	OMIM:117550
HP:0000006	Autosomal dominant inheritance	6521	SLC4A1	OMIM:179800
HP:0000006	Autosomal dominant inheritance	6521	SLC4A1	OMIM:185020
HP:0000006	Autosomal dominant inheritance	6521	SLC4A1	OMIM:612653
HP:0000006	Autosomal dominant inheritance	6521	SLC4A1	OMIM:166900
HP:0000006	Autosomal dominant inheritance	336	APOA2	OMIM:143890
HP:0000006	Autosomal dominant inheritance	2053	EPHX2	OMIM:143890
HP:0000006	Autosomal dominant inheritance	10842	PPP1R17	OMIM:143890
HP:0000006	Autosomal dominant inheritance	3949	LDLR	OMIM:143890
HP:0000006	Autosomal dominant inheritance	2690	GHR	OMIM:143890
HP:0000006	Autosomal dominant inheritance	2690	GHR	OMIM:604271
HP:0000006	Autosomal dominant inheritance	3778	KCNMA1	OMIM:609446
HP:0000006	Autosomal dominant inheritance	3778	KCNMA1	OMIM:618729
HP:0000006	Autosomal dominant inheritance	3778	KCNMA1	OMIM:618596
HP:0000006	Autosomal dominant inheritance	2492	FSHR	OMIM:608115
HP:0000006	Autosomal dominant inheritance	6843	VAMP1	OMIM:108600
HP:0000006	Autosomal dominant inheritance	2697	GJA1	OMIM:186100
HP:0000006	Autosomal dominant inheritance	2697	GJA1	OMIM:104100
HP:0000006	Autosomal dominant inheritance	2697	GJA1	OMIM:617525
HP:0000006	Autosomal dominant inheritance	2697	GJA1	OMIM:164200
HP:0000006	Autosomal dominant inheritance	6833	ABCC8	OMIM:610374
HP:0000006	Autosomal dominant inheritance	6833	ABCC8	OMIM:256450
HP:0000006	Autosomal dominant inheritance	6833	ABCC8	OMIM:125853
HP:0000006	Autosomal dominant inheritance	6833	ABCC8	OMIM:240800
HP:0000006	Autosomal dominant inheritance	6833	ABCC8	OMIM:618857
HP:0000006	Autosomal dominant inheritance	1028	CDKN1C	OMIM:614732
HP:0000006	Autosomal dominant inheritance	1028	CDKN1C	OMIM:130650
HP:0000006	Autosomal dominant inheritance	25942	SIN3A	OMIM:613406
HP:0000006	Autosomal dominant inheritance	4233	MET	OMIM:605074
HP:0000006	Autosomal dominant inheritance	4233	MET	OMIM:607278
HP:0000006	Autosomal dominant inheritance	4233	MET	OMIM:620019
HP:0000006	Autosomal dominant inheritance	5546	PRCC	OMIM:605074
HP:0000006	Autosomal dominant inheritance	10801	SEPTIN9	OMIM:162100
HP:0000006	Autosomal dominant inheritance	84839	RAX2	OMIM:610381
HP:0000006	Autosomal dominant inheritance	3651	PDX1	OMIM:606392
HP:0000006	Autosomal dominant inheritance	3651	PDX1	OMIM:125853
HP:0000006	Autosomal dominant inheritance	7012	TERC	OMIM:614743
HP:0000006	Autosomal dominant inheritance	7012	TERC	OMIM:127550
HP:0000006	Autosomal dominant inheritance	4760	NEUROD1	OMIM:606394
HP:0000006	Autosomal dominant inheritance	4760	NEUROD1	OMIM:125853
HP:0000006	Autosomal dominant inheritance	1080	CFTR	OMIM:167800
HP:0000006	Autosomal dominant inheritance	1080	CFTR	OMIM:211400
HP:0000006	Autosomal dominant inheritance	11330	CTRC	OMIM:167800
HP:0000006	Autosomal dominant inheritance	5645	PRSS2	OMIM:167800
HP:0000006	Autosomal dominant inheritance	5644	PRSS1	OMIM:167800
HP:0000006	Autosomal dominant inheritance	6690	SPINK1	OMIM:167800
HP:0000006	Autosomal dominant inheritance	6690	SPINK1	OMIM:608189
HP:0000006	Autosomal dominant inheritance	3664	IRF6	OMIM:119300
HP:0000006	Autosomal dominant inheritance	3664	IRF6	OMIM:608864
HP:0000006	Autosomal dominant inheritance	3664	IRF6	OMIM:119500
HP:0000006	Autosomal dominant inheritance	1294	COL7A1	OMIM:131850
HP:0000006	Autosomal dominant inheritance	1294	COL7A1	OMIM:131750
HP:0000006	Autosomal dominant inheritance	1294	COL7A1	OMIM:131705
HP:0000006	Autosomal dominant inheritance	1294	COL7A1	OMIM:607523
HP:0000006	Autosomal dominant inheritance	1294	COL7A1	OMIM:604129
HP:0000006	Autosomal dominant inheritance	1294	COL7A1	OMIM:132000
HP:0000006	Autosomal dominant inheritance	4784	NFIX	OMIM:614753
HP:0000006	Autosomal dominant inheritance	4784	NFIX	OMIM:602535
HP:0000006	Autosomal dominant inheritance	65055	REEP1	OMIM:614751
HP:0000006	Autosomal dominant inheritance	65055	REEP1	OMIM:610250
HP:0000006	Autosomal dominant inheritance	23261	CAMTA1	OMIM:614756
HP:0000006	Autosomal dominant inheritance	70	ACTC1	OMIM:613424
HP:0000006	Autosomal dominant inheritance	70	ACTC1	OMIM:612098
HP:0000006	Autosomal dominant inheritance	70	ACTC1	OMIM:612794
HP:0000006	Autosomal dominant inheritance	4625	MYH7	OMIM:613426
HP:0000006	Autosomal dominant inheritance	4625	MYH7	OMIM:192600
HP:0000006	Autosomal dominant inheritance	4625	MYH7	OMIM:160500
HP:0000006	Autosomal dominant inheritance	4625	MYH7	OMIM:608358
HP:0000006	Autosomal dominant inheritance	112476	PRRT2	OMIM:128200
HP:0000006	Autosomal dominant inheritance	112476	PRRT2	OMIM:605751
HP:0000006	Autosomal dominant inheritance	112476	PRRT2	OMIM:602066
HP:0000006	Autosomal dominant inheritance	2535	FZD2	OMIM:164745
HP:0000006	Autosomal dominant inheritance	6949	TCOF1	OMIM:154500
HP:0000006	Autosomal dominant inheritance	10133	OPTN	OMIM:613435
HP:0000006	Autosomal dominant inheritance	10133	OPTN	OMIM:137760
HP:0000006	Autosomal dominant inheritance	1540	CYLD	OMIM:605041
HP:0000006	Autosomal dominant inheritance	1540	CYLD	OMIM:132700
HP:0000006	Autosomal dominant inheritance	1540	CYLD	OMIM:619132
HP:0000006	Autosomal dominant inheritance	1540	CYLD	OMIM:601606
HP:0000006	Autosomal dominant inheritance	171023	ASXL1	OMIM:605039
HP:0000006	Autosomal dominant inheritance	1376	CPT2	OMIM:255110
HP:0000006	Autosomal dominant inheritance	1376	CPT2	OMIM:614212
HP:0000006	Autosomal dominant inheritance	4208	MEF2C	OMIM:613443
HP:0000006	Autosomal dominant inheritance	22907	DHX30	OMIM:617804
HP:0000006	Autosomal dominant inheritance	196528	ARID2	OMIM:617808
HP:0000006	Autosomal dominant inheritance	9230	RAB11B	OMIM:617807
HP:0000006	Autosomal dominant inheritance	80000	GREB1L	OMIM:617805
HP:0000006	Autosomal dominant inheritance	80000	GREB1L	OMIM:619274
HP:0000006	Autosomal dominant inheritance	4054	LTBP3	OMIM:617809
HP:0000006	Autosomal dominant inheritance	26058	GIGYF2	OMIM:607688
HP:0000006	Autosomal dominant inheritance	8048	CSRP3	OMIM:612124
HP:0000006	Autosomal dominant inheritance	8048	CSRP3	OMIM:607482
HP:0000006	Autosomal dominant inheritance	2290	FOXG1	OMIM:613454
HP:0000006	Autosomal dominant inheritance	6513	SLC2A1	OMIM:612126
HP:0000006	Autosomal dominant inheritance	6513	SLC2A1	OMIM:608885
HP:0000006	Autosomal dominant inheritance	6513	SLC2A1	OMIM:601042
HP:0000006	Autosomal dominant inheritance	6513	SLC2A1	OMIM:606777
HP:0000006	Autosomal dominant inheritance	6513	SLC2A1	OMIM:614847
HP:0000006	Autosomal dominant inheritance	4747	NEFL	OMIM:607684
HP:0000006	Autosomal dominant inheritance	4747	NEFL	OMIM:617882
HP:0000006	Autosomal dominant inheritance	4747	NEFL	OMIM:607734
HP:0000006	Autosomal dominant inheritance	785	CACNB4	OMIM:607682
HP:0000006	Autosomal dominant inheritance	785	CACNB4	OMIM:613855
HP:0000006	Autosomal dominant inheritance	1959	EGR2	OMIM:607678
HP:0000006	Autosomal dominant inheritance	1959	EGR2	OMIM:145900
HP:0000006	Autosomal dominant inheritance	1959	EGR2	OMIM:605253
HP:0000006	Autosomal dominant inheritance	4646	MYO6	OMIM:606346
HP:0000006	Autosomal dominant inheritance	1278	COL1A2	OMIM:617821
HP:0000006	Autosomal dominant inheritance	1278	COL1A2	OMIM:259420
HP:0000006	Autosomal dominant inheritance	1278	COL1A2	OMIM:166710
HP:0000006	Autosomal dominant inheritance	1278	COL1A2	OMIM:619120
HP:0000006	Autosomal dominant inheritance	1278	COL1A2	OMIM:166210
HP:0000006	Autosomal dominant inheritance	1278	COL1A2	OMIM:166220
HP:0000006	Autosomal dominant inheritance	4792	NFKBIA	OMIM:612132
HP:0000006	Autosomal dominant inheritance	2263	FGFR2	OMIM:207410
HP:0000006	Autosomal dominant inheritance	2263	FGFR2	OMIM:123500
HP:0000006	Autosomal dominant inheritance	2263	FGFR2	OMIM:614592
HP:0000006	Autosomal dominant inheritance	2263	FGFR2	OMIM:101200
HP:0000006	Autosomal dominant inheritance	2263	FGFR2	OMIM:123790
HP:0000006	Autosomal dominant inheritance	2263	FGFR2	OMIM:101400
HP:0000006	Autosomal dominant inheritance	2263	FGFR2	OMIM:149730
HP:0000006	Autosomal dominant inheritance	2263	FGFR2	OMIM:123150
HP:0000006	Autosomal dominant inheritance	2263	FGFR2	OMIM:101600
HP:0000006	Autosomal dominant inheritance	5447	POR	OMIM:207410
HP:0000006	Autosomal dominant inheritance	3861	KRT14	OMIM:131800
HP:0000006	Autosomal dominant inheritance	3861	KRT14	OMIM:131760
HP:0000006	Autosomal dominant inheritance	3861	KRT14	OMIM:161000
HP:0000006	Autosomal dominant inheritance	3861	KRT14	OMIM:131900
HP:0000006	Autosomal dominant inheritance	3861	KRT14	OMIM:125595
HP:0000006	Autosomal dominant inheritance	2561	GABRB2	OMIM:617829
HP:0000006	Autosomal dominant inheritance	54822	TRPM7	OMIM:105500
HP:0000006	Autosomal dominant inheritance	25953	PNKD	OMIM:118800
HP:0000006	Autosomal dominant inheritance	3930	LBR	OMIM:613471
HP:0000006	Autosomal dominant inheritance	3930	LBR	OMIM:169400
HP:0000006	Autosomal dominant inheritance	116150	NUS1	OMIM:617831
HP:0000006	Autosomal dominant inheritance	6709	SPTAN1	OMIM:613477
HP:0000006	Autosomal dominant inheritance	6709	SPTAN1	OMIM:620528
HP:0000006	Autosomal dominant inheritance	6709	SPTAN1	OMIM:620538
HP:0000006	Autosomal dominant inheritance	6709	SPTAN1	OMIM:620540
HP:0000006	Autosomal dominant inheritance	4915	NTRK2	OMIM:617830
HP:0000006	Autosomal dominant inheritance	4915	NTRK2	OMIM:613886
HP:0000006	Autosomal dominant inheritance	79947	DHDDS	OMIM:617836
HP:0000006	Autosomal dominant inheritance	668	FOXL2	OMIM:608996
HP:0000006	Autosomal dominant inheritance	668	FOXL2	OMIM:110100
HP:0000006	Autosomal dominant inheritance	311	ANXA11	OMIM:617839
HP:0000006	Autosomal dominant inheritance	311	ANXA11	OMIM:619733
HP:0000006	Autosomal dominant inheritance	10804	GJB6	OMIM:129500
HP:0000006	Autosomal dominant inheritance	10804	GJB6	OMIM:612643
HP:0000006	Autosomal dominant inheritance	5573	PRKAR1A	OMIM:255960
HP:0000006	Autosomal dominant inheritance	5573	PRKAR1A	OMIM:101800
HP:0000006	Autosomal dominant inheritance	5573	PRKAR1A	OMIM:160980
HP:0000006	Autosomal dominant inheritance	5573	PRKAR1A	OMIM:610489
HP:0000006	Autosomal dominant inheritance	57165	GJC2	OMIM:613480
HP:0000006	Autosomal dominant inheritance	3762	KCNJ5	OMIM:613485
HP:0000006	Autosomal dominant inheritance	3762	KCNJ5	OMIM:613677
HP:0000006	Autosomal dominant inheritance	26060	APPL1	OMIM:616511
HP:0000006	Autosomal dominant inheritance	88	ACTN2	OMIM:612158
HP:0000006	Autosomal dominant inheritance	88	ACTN2	OMIM:618654
HP:0000006	Autosomal dominant inheritance	88	ACTN2	OMIM:618655
HP:0000006	Autosomal dominant inheritance	81790	RNF170	OMIM:608984
HP:0000006	Autosomal dominant inheritance	3848	KRT1	OMIM:607654
HP:0000006	Autosomal dominant inheritance	3848	KRT1	OMIM:113800
HP:0000006	Autosomal dominant inheritance	3848	KRT1	OMIM:600962
HP:0000006	Autosomal dominant inheritance	3848	KRT1	OMIM:620411
HP:0000006	Autosomal dominant inheritance	3848	KRT1	OMIM:620148
HP:0000006	Autosomal dominant inheritance	3848	KRT1	OMIM:146590
HP:0000006	Autosomal dominant inheritance	3892	KRT86	OMIM:158000
HP:0000006	Autosomal dominant inheritance	3887	KRT81	OMIM:158000
HP:0000006	Autosomal dominant inheritance	3889	KRT83	OMIM:158000
HP:0000006	Autosomal dominant inheritance	2703	GJA8	OMIM:116200
HP:0000006	Autosomal dominant inheritance	2703	GJA8	OMIM:612474
HP:0000006	Autosomal dominant inheritance	6812	STXBP1	OMIM:612164
HP:0000006	Autosomal dominant inheritance	1213	CLTC	OMIM:617854
HP:0000006	Autosomal dominant inheritance	23040	MYT1L	OMIM:616521
HP:0000006	Autosomal dominant inheritance	1639	DCTN1	OMIM:607641
HP:0000006	Autosomal dominant inheritance	1639	DCTN1	OMIM:105400
HP:0000006	Autosomal dominant inheritance	1639	DCTN1	OMIM:168605
HP:0000006	Autosomal dominant inheritance	203228	C9orf72	OMIM:105550
HP:0000006	Autosomal dominant inheritance	1495	CTNNA1	OMIM:608970
HP:0000006	Autosomal dominant inheritance	11235	PDCD10	OMIM:603285
HP:0000006	Autosomal dominant inheritance	83605	CCM2	OMIM:603284
HP:0000006	Autosomal dominant inheritance	81	ACTN4	OMIM:603278
HP:0000006	Autosomal dominant inheritance	284252	KCTD1	OMIM:181270
HP:0000006	Autosomal dominant inheritance	3040	HBA2	OMIM:140700
HP:0000006	Autosomal dominant inheritance	3040	HBA2	OMIM:617981
HP:0000006	Autosomal dominant inheritance	3039	HBA1	OMIM:140700
HP:0000006	Autosomal dominant inheritance	3039	HBA1	OMIM:617973
HP:0000006	Autosomal dominant inheritance	3039	HBA1	OMIM:617981
HP:0000006	Autosomal dominant inheritance	3043	HBB	OMIM:140700
HP:0000006	Autosomal dominant inheritance	3043	HBB	OMIM:603902
HP:0000006	Autosomal dominant inheritance	3043	HBB	OMIM:141749
HP:0000006	Autosomal dominant inheritance	3043	HBB	OMIM:617971
HP:0000006	Autosomal dominant inheritance	3043	HBB	OMIM:617980
HP:0000006	Autosomal dominant inheritance	4041	LRP5	OMIM:607634
HP:0000006	Autosomal dominant inheritance	4041	LRP5	OMIM:617875
HP:0000006	Autosomal dominant inheritance	4041	LRP5	OMIM:133780
HP:0000006	Autosomal dominant inheritance	4041	LRP5	OMIM:601813
HP:0000006	Autosomal dominant inheritance	4041	LRP5	OMIM:144750
HP:0000006	Autosomal dominant inheritance	726	CAPN5	OMIM:193235
HP:0000006	Autosomal dominant inheritance	3026	HABP2	OMIM:616535
HP:0000006	Autosomal dominant inheritance	3026	HABP2	OMIM:188050
HP:0000006	Autosomal dominant inheritance	2304	FOXE1	OMIM:616534
HP:0000006	Autosomal dominant inheritance	57688	ZSWIM6	OMIM:617865
HP:0000006	Autosomal dominant inheritance	57688	ZSWIM6	OMIM:603671
HP:0000006	Autosomal dominant inheritance	2893	GRIA4	OMIM:617864
HP:0000006	Autosomal dominant inheritance	3661	IRF3	OMIM:616532
HP:0000006	Autosomal dominant inheritance	81562	LMAN2L	OMIM:617863
HP:0000006	Autosomal dominant inheritance	6620	SNCB	OMIM:127750
HP:0000006	Autosomal dominant inheritance	2629	GBA1	OMIM:127750
HP:0000006	Autosomal dominant inheritance	2629	GBA1	OMIM:168600
HP:0000006	Autosomal dominant inheritance	6622	SNCA	OMIM:127750
HP:0000006	Autosomal dominant inheritance	6622	SNCA	OMIM:605543
HP:0000006	Autosomal dominant inheritance	6622	SNCA	OMIM:168601
HP:0000006	Autosomal dominant inheritance	114327	EFHC1	OMIM:607631
HP:0000006	Autosomal dominant inheritance	114327	EFHC1	OMIM:254770
HP:0000006	Autosomal dominant inheritance	1181	CLCN2	OMIM:607628
HP:0000006	Autosomal dominant inheritance	1181	CLCN2	OMIM:605635
HP:0000006	Autosomal dominant inheritance	3769	KCNJ13	OMIM:193230
HP:0000006	Autosomal dominant inheritance	79053	ALG8	OMIM:617874
HP:0000006	Autosomal dominant inheritance	5002	SLC22A18	OMIM:114480
HP:0000006	Autosomal dominant inheritance	5002	SLC22A18	OMIM:211980
HP:0000006	Autosomal dominant inheritance	83990	BRIP1	OMIM:114480
HP:0000006	Autosomal dominant inheritance	4835	NQO2	OMIM:114480
HP:0000006	Autosomal dominant inheritance	5245	PHB1	OMIM:114480
HP:0000006	Autosomal dominant inheritance	3161	HMMR	OMIM:114480
HP:0000006	Autosomal dominant inheritance	580	BARD1	OMIM:114480
HP:0000006	Autosomal dominant inheritance	8493	PPM1D	OMIM:114480
HP:0000006	Autosomal dominant inheritance	8493	PPM1D	OMIM:617450
HP:0000006	Autosomal dominant inheritance	675	BRCA2	OMIM:114480
HP:0000006	Autosomal dominant inheritance	675	BRCA2	OMIM:176807
HP:0000006	Autosomal dominant inheritance	675	BRCA2	OMIM:612555
HP:0000006	Autosomal dominant inheritance	675	BRCA2	OMIM:155255
HP:0000006	Autosomal dominant inheritance	675	BRCA2	OMIM:194070
HP:0000006	Autosomal dominant inheritance	9821	RB1CC1	OMIM:114480
HP:0000006	Autosomal dominant inheritance	472	ATM	OMIM:114480
HP:0000006	Autosomal dominant inheritance	207	AKT1	OMIM:114480
HP:0000006	Autosomal dominant inheritance	207	AKT1	OMIM:615109
HP:0000006	Autosomal dominant inheritance	207	AKT1	OMIM:114500
HP:0000006	Autosomal dominant inheritance	207	AKT1	OMIM:167000
HP:0000006	Autosomal dominant inheritance	2099	ESR1	OMIM:114480
HP:0000006	Autosomal dominant inheritance	2099	ESR1	OMIM:157300
HP:0000006	Autosomal dominant inheritance	7517	XRCC3	OMIM:114480
HP:0000006	Autosomal dominant inheritance	5888	RAD51	OMIM:114480
HP:0000006	Autosomal dominant inheritance	5888	RAD51	OMIM:614508
HP:0000006	Autosomal dominant inheritance	5888	RAD51	OMIM:157600
HP:0000006	Autosomal dominant inheritance	5888	RAD51	OMIM:617244
HP:0000006	Autosomal dominant inheritance	8438	RAD54L	OMIM:114480
HP:0000006	Autosomal dominant inheritance	841	CASP8	OMIM:114480
HP:0000006	Autosomal dominant inheritance	841	CASP8	OMIM:211980
HP:0000006	Autosomal dominant inheritance	5290	PIK3CA	OMIM:114480
HP:0000006	Autosomal dominant inheritance	5290	PIK3CA	OMIM:619538
HP:0000006	Autosomal dominant inheritance	5290	PIK3CA	OMIM:615108
HP:0000006	Autosomal dominant inheritance	5290	PIK3CA	OMIM:114500
HP:0000006	Autosomal dominant inheritance	5290	PIK3CA	OMIM:167000
HP:0000006	Autosomal dominant inheritance	5290	PIK3CA	OMIM:211980
HP:0000006	Autosomal dominant inheritance	672	BRCA1	OMIM:114480
HP:0000006	Autosomal dominant inheritance	672	BRCA1	OMIM:604370
HP:0000006	Autosomal dominant inheritance	10383	TUBB4B	OMIM:617879
HP:0000006	Autosomal dominant inheritance	1285	COL4A3	OMIM:104200
HP:0000006	Autosomal dominant inheritance	1285	COL4A3	OMIM:620320
HP:0000006	Autosomal dominant inheritance	65057	ACD	OMIM:616553
HP:0000006	Autosomal dominant inheritance	22861	NLRP1	OMIM:615225
HP:0000006	Autosomal dominant inheritance	22861	NLRP1	OMIM:617388
HP:0000006	Autosomal dominant inheritance	2212	FCGR2A	OMIM:152700
HP:0000006	Autosomal dominant inheritance	2213	FCGR2B	OMIM:152700
HP:0000006	Autosomal dominant inheritance	26191	PTPN22	OMIM:152700
HP:0000006	Autosomal dominant inheritance	1493	CTLA4	OMIM:152700
HP:0000006	Autosomal dominant inheritance	1493	CTLA4	OMIM:616100
HP:0000006	Autosomal dominant inheritance	1493	CTLA4	OMIM:140300
HP:0000006	Autosomal dominant inheritance	1773	DNASE1	OMIM:152700
HP:0000006	Autosomal dominant inheritance	1453	CSNK1D	OMIM:615224
HP:0000006	Autosomal dominant inheritance	6655	SOS2	OMIM:616559
HP:0000006	Autosomal dominant inheritance	7439	BEST1	OMIM:193220
HP:0000006	Autosomal dominant inheritance	7439	BEST1	OMIM:613194
HP:0000006	Autosomal dominant inheritance	7439	BEST1	OMIM:153700
HP:0000006	Autosomal dominant inheritance	7072	TIA1	OMIM:604454
HP:0000006	Autosomal dominant inheritance	7072	TIA1	OMIM:619133
HP:0000006	Autosomal dominant inheritance	1410	CRYAB	OMIM:608810
HP:0000006	Autosomal dominant inheritance	1410	CRYAB	OMIM:615184
HP:0000006	Autosomal dominant inheritance	1410	CRYAB	OMIM:613763
HP:0000006	Autosomal dominant inheritance	23646	PLD3	OMIM:617770
HP:0000006	Autosomal dominant inheritance	114548	NLRP3	OMIM:617772
HP:0000006	Autosomal dominant inheritance	114548	NLRP3	OMIM:120100
HP:0000006	Autosomal dominant inheritance	114548	NLRP3	OMIM:191900
HP:0000006	Autosomal dominant inheritance	114548	NLRP3	OMIM:148200
HP:0000006	Autosomal dominant inheritance	114548	NLRP3	OMIM:607115
HP:0000006	Autosomal dominant inheritance	343450	KCNT2	OMIM:617771
HP:0000006	Autosomal dominant inheritance	84433	CARD11	OMIM:616452
HP:0000006	Autosomal dominant inheritance	84433	CARD11	OMIM:617638
HP:0000006	Autosomal dominant inheritance	8792	TNFRSF11A	OMIM:174810
HP:0000006	Autosomal dominant inheritance	8792	TNFRSF11A	OMIM:602080
HP:0000006	Autosomal dominant inheritance	51111	KMT5B	OMIM:617788
HP:0000006	Autosomal dominant inheritance	55689	YEATS2	OMIM:615127
HP:0000006	Autosomal dominant inheritance	80155	NAA15	OMIM:617787
HP:0000006	Autosomal dominant inheritance	526	ATP6V1B2	OMIM:616455
HP:0000006	Autosomal dominant inheritance	526	ATP6V1B2	OMIM:124480
HP:0000006	Autosomal dominant inheritance	1991	ELANE	OMIM:162800
HP:0000006	Autosomal dominant inheritance	1991	ELANE	OMIM:202700
HP:0000006	Autosomal dominant inheritance	146057	TTBK2	OMIM:604432
HP:0000006	Autosomal dominant inheritance	10388	SYCP2	OMIM:258150
HP:0000006	Autosomal dominant inheritance	51083	GAL	OMIM:616461
HP:0000006	Autosomal dominant inheritance	55870	ASH1L	OMIM:617796
HP:0000006	Autosomal dominant inheritance	25885	POLR1A	OMIM:616462
HP:0000006	Autosomal dominant inheritance	816	CAMK2B	OMIM:617799
HP:0000006	Autosomal dominant inheritance	79797	ZNF408	OMIM:616468
HP:0000006	Autosomal dominant inheritance	815	CAMK2A	OMIM:617798
HP:0000006	Autosomal dominant inheritance	1441	CSF3R	OMIM:162830
HP:0000006	Autosomal dominant inheritance	861	RUNX1	OMIM:601399
HP:0000006	Autosomal dominant inheritance	861	RUNX1	OMIM:601626
HP:0000006	Autosomal dominant inheritance	1303	COL12A1	OMIM:616471
HP:0000006	Autosomal dominant inheritance	1303	COL12A1	OMIM:616470
HP:0000006	Autosomal dominant inheritance	84173	ELMOD3	OMIM:619500
HP:0000006	Autosomal dominant inheritance	1482	NKX2-5	OMIM:225250
HP:0000006	Autosomal dominant inheritance	1482	NKX2-5	OMIM:187500
HP:0000006	Autosomal dominant inheritance	1482	NKX2-5	OMIM:614432
HP:0000006	Autosomal dominant inheritance	1482	NKX2-5	OMIM:614435
HP:0000006	Autosomal dominant inheritance	1482	NKX2-5	OMIM:108900
HP:0000006	Autosomal dominant inheritance	2783	GNB2	OMIM:619503
HP:0000006	Autosomal dominant inheritance	2783	GNB2	OMIM:619464
HP:0000006	Autosomal dominant inheritance	26057	ANKRD17	OMIM:619504
HP:0000006	Autosomal dominant inheritance	9051	PSTPIP1	OMIM:604416
HP:0000006	Autosomal dominant inheritance	9051	PSTPIP1	OMIM:601979
HP:0000006	Autosomal dominant inheritance	10594	PRPF8	OMIM:600059
HP:0000006	Autosomal dominant inheritance	10043	TOM1	OMIM:619510
HP:0000006	Autosomal dominant inheritance	1182	CLCN3	OMIM:619512
HP:0000006	Autosomal dominant inheritance	63895	PIEZO2	OMIM:114300
HP:0000006	Autosomal dominant inheritance	63895	PIEZO2	OMIM:248700
HP:0000006	Autosomal dominant inheritance	63895	PIEZO2	OMIM:108145
HP:0000006	Autosomal dominant inheritance	1763	DNA2	OMIM:615156
HP:0000006	Autosomal dominant inheritance	779	CACNA1S	OMIM:170400
HP:0000006	Autosomal dominant inheritance	779	CACNA1S	OMIM:188580
HP:0000006	Autosomal dominant inheritance	779	CACNA1S	OMIM:601887
HP:0000006	Autosomal dominant inheritance	779	CACNA1S	OMIM:620246
HP:0000006	Autosomal dominant inheritance	11012	KLK11	OMIM:620507
HP:0000006	Autosomal dominant inheritance	3481	IGF2	OMIM:616489
HP:0000006	Autosomal dominant inheritance	3481	IGF2	OMIM:180860
HP:0000006	Autosomal dominant inheritance	3481	IGF2	OMIM:130650
HP:0000006	Autosomal dominant inheritance	3481	IGF2	OMIM:194070
HP:0000006	Autosomal dominant inheritance	57863	CADM3	OMIM:619519
HP:0000006	Autosomal dominant inheritance	6323	SCN1A	OMIM:604403
HP:0000006	Autosomal dominant inheritance	6323	SCN1A	OMIM:619317
HP:0000006	Autosomal dominant inheritance	6323	SCN1A	OMIM:607208
HP:0000006	Autosomal dominant inheritance	6323	SCN1A	OMIM:609634
HP:0000006	Autosomal dominant inheritance	79188	TMEM43	OMIM:604400
HP:0000006	Autosomal dominant inheritance	79188	TMEM43	OMIM:614302
HP:0000006	Autosomal dominant inheritance	79188	TMEM43	OMIM:619832
HP:0000006	Autosomal dominant inheritance	10021	HCN4	OMIM:619521
HP:0000006	Autosomal dominant inheritance	10021	HCN4	OMIM:163800
HP:0000006	Autosomal dominant inheritance	7750	ZMYM2	OMIM:619522
HP:0000006	Autosomal dominant inheritance	4669	NAGLU	OMIM:616491
HP:0000006	Autosomal dominant inheritance	3630	INS	OMIM:125852
HP:0000006	Autosomal dominant inheritance	3630	INS	OMIM:613370
HP:0000006	Autosomal dominant inheritance	3630	INS	OMIM:616214
HP:0000006	Autosomal dominant inheritance	3630	INS	OMIM:618858
HP:0000006	Autosomal dominant inheritance	6934	TCF7L2	OMIM:125853
HP:0000006	Autosomal dominant inheritance	5078	PAX4	OMIM:125853
HP:0000006	Autosomal dominant inheritance	5078	PAX4	OMIM:612225
HP:0000006	Autosomal dominant inheritance	5078	PAX4	OMIM:612227
HP:0000006	Autosomal dominant inheritance	3172	HNF4A	OMIM:125853
HP:0000006	Autosomal dominant inheritance	3172	HNF4A	OMIM:125850
HP:0000006	Autosomal dominant inheritance	3172	HNF4A	OMIM:616026
HP:0000006	Autosomal dominant inheritance	3569	IL6	OMIM:125853
HP:0000006	Autosomal dominant inheritance	3569	IL6	OMIM:148000
HP:0000006	Autosomal dominant inheritance	3990	LIPC	OMIM:125853
HP:0000006	Autosomal dominant inheritance	6927	HNF1A	OMIM:125853
HP:0000006	Autosomal dominant inheritance	6927	HNF1A	OMIM:142330
HP:0000006	Autosomal dominant inheritance	6927	HNF1A	OMIM:600496
HP:0000006	Autosomal dominant inheritance	5506	PPP1R3A	OMIM:125853
HP:0000006	Autosomal dominant inheritance	169026	SLC30A8	OMIM:125853
HP:0000006	Autosomal dominant inheritance	2820	GPD2	OMIM:125853
HP:0000006	Autosomal dominant inheritance	6514	SLC2A2	OMIM:125853
HP:0000006	Autosomal dominant inheritance	5468	PPARG	OMIM:125853
HP:0000006	Autosomal dominant inheritance	5468	PPARG	OMIM:604367
HP:0000006	Autosomal dominant inheritance	5468	PPARG	OMIM:601665
HP:0000006	Autosomal dominant inheritance	5167	ENPP1	OMIM:125853
HP:0000006	Autosomal dominant inheritance	5167	ENPP1	OMIM:615522
HP:0000006	Autosomal dominant inheritance	5167	ENPP1	OMIM:601665
HP:0000006	Autosomal dominant inheritance	5770	PTPN1	OMIM:125853
HP:0000006	Autosomal dominant inheritance	8660	IRS2	OMIM:125853
HP:0000006	Autosomal dominant inheritance	3159	HMGA1	OMIM:125853
HP:0000006	Autosomal dominant inheritance	3667	IRS1	OMIM:125853
HP:0000006	Autosomal dominant inheritance	9479	MAPK8IP1	OMIM:125853
HP:0000006	Autosomal dominant inheritance	4544	MTNR1B	OMIM:125853
HP:0000006	Autosomal dominant inheritance	56729	RETN	OMIM:125853
HP:0000006	Autosomal dominant inheritance	7466	WFS1	OMIM:125853
HP:0000006	Autosomal dominant inheritance	7466	WFS1	OMIM:600965
HP:0000006	Autosomal dominant inheritance	7466	WFS1	OMIM:116400
HP:0000006	Autosomal dominant inheritance	7466	WFS1	OMIM:614296
HP:0000006	Autosomal dominant inheritance	2645	GCK	OMIM:125853
HP:0000006	Autosomal dominant inheritance	2645	GCK	OMIM:125851
HP:0000006	Autosomal dominant inheritance	2645	GCK	OMIM:602485
HP:0000006	Autosomal dominant inheritance	10644	IGF2BP2	OMIM:125853
HP:0000006	Autosomal dominant inheritance	2542	SLC37A4	OMIM:619525
HP:0000006	Autosomal dominant inheritance	5335	PLCG1	OMIM:620514
HP:0000006	Autosomal dominant inheritance	57466	SCAF4	OMIM:620511
HP:0000006	Autosomal dominant inheritance	11160	ERLIN2	OMIM:620512
HP:0000006	Autosomal dominant inheritance	1690	COCH	OMIM:601369
HP:0000006	Autosomal dominant inheritance	57479	PRR12	OMIM:619539
HP:0000006	Autosomal dominant inheritance	79651	RHBDF2	OMIM:148500
HP:0000006	Autosomal dominant inheritance	3551	IKBKB	OMIM:618204
HP:0000006	Autosomal dominant inheritance	1107	CHD3	OMIM:618205
HP:0000006	Autosomal dominant inheritance	1832	DSP	OMIM:612908
HP:0000006	Autosomal dominant inheritance	1832	DSP	OMIM:615821
HP:0000006	Autosomal dominant inheritance	1832	DSP	OMIM:607450
HP:0000006	Autosomal dominant inheritance	351	APP	OMIM:605714
HP:0000006	Autosomal dominant inheritance	351	APP	OMIM:104300
HP:0000006	Autosomal dominant inheritance	6595	SMARCA2	OMIM:601358
HP:0000006	Autosomal dominant inheritance	6595	SMARCA2	OMIM:619293
HP:0000006	Autosomal dominant inheritance	6261	RYR1	OMIM:619542
HP:0000006	Autosomal dominant inheritance	6261	RYR1	OMIM:145600
HP:0000006	Autosomal dominant inheritance	6261	RYR1	OMIM:117000
HP:0000006	Autosomal dominant inheritance	59345	GNB4	OMIM:615185
HP:0000006	Autosomal dominant inheritance	1419	CRYGB	OMIM:615188
HP:0000006	Autosomal dominant inheritance	27133	KCNH5	OMIM:620537
HP:0000006	Autosomal dominant inheritance	2271	FH	OMIM:150800
HP:0000006	Autosomal dominant inheritance	11338	U2AF2	OMIM:620535
HP:0000006	Autosomal dominant inheritance	6857	SYT1	OMIM:618218
HP:0000006	Autosomal dominant inheritance	6778	STAT6	OMIM:620532
HP:0000006	Autosomal dominant inheritance	51750	RTEL1	OMIM:615190
HP:0000006	Autosomal dominant inheritance	51750	RTEL1	OMIM:616373
HP:0000006	Autosomal dominant inheritance	6909	TBX2	OMIM:618223
HP:0000006	Autosomal dominant inheritance	51422	PRKAG2	OMIM:261740
HP:0000006	Autosomal dominant inheritance	51422	PRKAG2	OMIM:600858
HP:0000006	Autosomal dominant inheritance	51422	PRKAG2	OMIM:194200
HP:0000006	Autosomal dominant inheritance	87	ACTN1	OMIM:615193
HP:0000006	Autosomal dominant inheritance	30000	TNPO2	OMIM:619556
HP:0000006	Autosomal dominant inheritance	359	AQP2	OMIM:125800
HP:0000006	Autosomal dominant inheritance	4179	CD46	OMIM:612922
HP:0000006	Autosomal dominant inheritance	629	CFB	OMIM:612924
HP:0000006	Autosomal dominant inheritance	1277	COL1A1	OMIM:259420
HP:0000006	Autosomal dominant inheritance	1277	COL1A1	OMIM:166710
HP:0000006	Autosomal dominant inheritance	1277	COL1A1	OMIM:130060
HP:0000006	Autosomal dominant inheritance	1277	COL1A1	OMIM:114000
HP:0000006	Autosomal dominant inheritance	1277	COL1A1	OMIM:619115
HP:0000006	Autosomal dominant inheritance	1277	COL1A1	OMIM:166210
HP:0000006	Autosomal dominant inheritance	1277	COL1A1	OMIM:166220
HP:0000006	Autosomal dominant inheritance	1277	COL1A1	OMIM:166200
HP:0000006	Autosomal dominant inheritance	3426	CFI	OMIM:612923
HP:0000006	Autosomal dominant inheritance	3426	CFI	OMIM:615439
HP:0000006	Autosomal dominant inheritance	7056	THBD	OMIM:612926
HP:0000006	Autosomal dominant inheritance	7056	THBD	OMIM:614486
HP:0000006	Autosomal dominant inheritance	718	C3	OMIM:612925
HP:0000006	Autosomal dominant inheritance	2627	GATA6	OMIM:600001
HP:0000006	Autosomal dominant inheritance	2627	GATA6	OMIM:187500
HP:0000006	Autosomal dominant inheritance	2627	GATA6	OMIM:614474
HP:0000006	Autosomal dominant inheritance	2627	GATA6	OMIM:614475
HP:0000006	Autosomal dominant inheritance	80114	BICC1	OMIM:601331
HP:0000006	Autosomal dominant inheritance	7555	CNBP	OMIM:602668
HP:0000006	Autosomal dominant inheritance	10659	CELF2	OMIM:619561
HP:0000006	Autosomal dominant inheritance	7846	TUBA1A	OMIM:611603
HP:0000006	Autosomal dominant inheritance	54471	MIEF1	OMIM:620550
HP:0000006	Autosomal dominant inheritance	4763	NF1	OMIM:601321
HP:0000006	Autosomal dominant inheritance	4763	NF1	OMIM:162210
HP:0000006	Autosomal dominant inheritance	4763	NF1	OMIM:162200
HP:0000006	Autosomal dominant inheritance	4763	NF1	OMIM:193520
HP:0000006	Autosomal dominant inheritance	4763	NF1	OMIM:607785
HP:0000006	Autosomal dominant inheritance	57551	TAOK1	OMIM:619575
HP:0000006	Autosomal dominant inheritance	2064	ERBB2	OMIM:137800
HP:0000006	Autosomal dominant inheritance	2064	ERBB2	OMIM:167000
HP:0000006	Autosomal dominant inheritance	2064	ERBB2	OMIM:211980
HP:0000006	Autosomal dominant inheritance	3417	IDH1	OMIM:137800
HP:0000006	Autosomal dominant inheritance	182	JAG1	OMIM:619574
HP:0000006	Autosomal dominant inheritance	182	JAG1	OMIM:187500
HP:0000006	Autosomal dominant inheritance	182	JAG1	OMIM:118450
HP:0000006	Autosomal dominant inheritance	182	JAG1	OMIM:617992
HP:0000006	Autosomal dominant inheritance	7170	TPM3	OMIM:609284
HP:0000006	Autosomal dominant inheritance	7170	TPM3	OMIM:255310
HP:0000006	Autosomal dominant inheritance	7169	TPM2	OMIM:609285
HP:0000006	Autosomal dominant inheritance	7169	TPM2	OMIM:108120
HP:0000006	Autosomal dominant inheritance	291	SLC25A4	OMIM:609283
HP:0000006	Autosomal dominant inheritance	291	SLC25A4	OMIM:617184
HP:0000006	Autosomal dominant inheritance	23476	BRD4	OMIM:620568
HP:0000006	Autosomal dominant inheritance	55975	KLHL7	OMIM:612943
HP:0000006	Autosomal dominant inheritance	56652	TWNK	OMIM:609286
HP:0000006	Autosomal dominant inheritance	2771	GNAI2	OMIM:192605
HP:0000006	Autosomal dominant inheritance	2898	GRIK2	OMIM:619580
HP:0000006	Autosomal dominant inheritance	85366	MYLK2	OMIM:192600
HP:0000006	Autosomal dominant inheritance	4624	MYH6	OMIM:192600
HP:0000006	Autosomal dominant inheritance	4624	MYH6	OMIM:613251
HP:0000006	Autosomal dominant inheritance	4624	MYH6	OMIM:613252
HP:0000006	Autosomal dominant inheritance	4624	MYH6	OMIM:614089
HP:0000006	Autosomal dominant inheritance	2070	EYA4	OMIM:601316
HP:0000006	Autosomal dominant inheritance	2070	EYA4	OMIM:605362
HP:0000006	Autosomal dominant inheritance	4647	MYO7A	OMIM:601317
HP:0000006	Autosomal dominant inheritance	390594	KBTBD13	OMIM:609273
HP:0000006	Autosomal dominant inheritance	2706	GJB2	OMIM:124500
HP:0000006	Autosomal dominant inheritance	2706	GJB2	OMIM:602540
HP:0000006	Autosomal dominant inheritance	2706	GJB2	OMIM:149200
HP:0000006	Autosomal dominant inheritance	2706	GJB2	OMIM:148210
HP:0000006	Autosomal dominant inheritance	2706	GJB2	OMIM:601544
HP:0000006	Autosomal dominant inheritance	2706	GJB2	OMIM:148350
HP:0000006	Autosomal dominant inheritance	23384	SPECC1L	OMIM:145420
HP:0000006	Autosomal dominant inheritance	23384	SPECC1L	OMIM:600251
HP:0000006	Autosomal dominant inheritance	151516	ASPRV1	OMIM:146750
HP:0000006	Autosomal dominant inheritance	6640	SNTA1	OMIM:612955
HP:0000006	Autosomal dominant inheritance	4990	SIX6	OMIM:206900
HP:0000006	Autosomal dominant inheritance	6657	SOX2	OMIM:206900
HP:0000006	Autosomal dominant inheritance	9531	BAG3	OMIM:612954
HP:0000006	Autosomal dominant inheritance	9531	BAG3	OMIM:613881
HP:0000006	Autosomal dominant inheritance	2300	FOXL1	OMIM:620576
HP:0000006	Autosomal dominant inheritance	1804	DPP6	OMIM:612956
HP:0000006	Autosomal dominant inheritance	1804	DPP6	OMIM:616311
HP:0000006	Autosomal dominant inheritance	7225	TRPC6	OMIM:603965
HP:0000006	Autosomal dominant inheritance	7068	THRB	OMIM:188570
HP:0000006	Autosomal dominant inheritance	7068	THRB	OMIM:145650
HP:0000006	Autosomal dominant inheritance	55229	PANK4	OMIM:619593
HP:0000006	Autosomal dominant inheritance	9423	NTN1	OMIM:618264
HP:0000006	Autosomal dominant inheritance	9423	NTN1	OMIM:157600
HP:0000006	Autosomal dominant inheritance	5530	PPP3CA	OMIM:618265
HP:0000006	Autosomal dominant inheritance	5530	PPP3CA	OMIM:617711
HP:0000006	Autosomal dominant inheritance	9927	MFN2	OMIM:609260
HP:0000006	Autosomal dominant inheritance	9927	MFN2	OMIM:601152
HP:0000006	Autosomal dominant inheritance	9927	MFN2	OMIM:151800
HP:0000006	Autosomal dominant inheritance	2254	FGF9	OMIM:612961
HP:0000006	Autosomal dominant inheritance	6469	SHH	OMIM:611638
HP:0000006	Autosomal dominant inheritance	6469	SHH	OMIM:147250
HP:0000006	Autosomal dominant inheritance	6469	SHH	OMIM:142945
HP:0000006	Autosomal dominant inheritance	2312	FLG	OMIM:146700
HP:0000006	Autosomal dominant inheritance	11200	CHEK2	OMIM:609265
HP:0000006	Autosomal dominant inheritance	11200	CHEK2	OMIM:176807
HP:0000006	Autosomal dominant inheritance	10060	ABCC9	OMIM:239850
HP:0000006	Autosomal dominant inheritance	10060	ABCC9	OMIM:608569
HP:0000006	Autosomal dominant inheritance	10060	ABCC9	OMIM:614050
HP:0000006	Autosomal dominant inheritance	8204	NRIP1	OMIM:618270
HP:0000006	Autosomal dominant inheritance	79776	ZFHX4	OMIM:178300
HP:0000006	Autosomal dominant inheritance	5375	PMP2	OMIM:618279
HP:0000006	Autosomal dominant inheritance	22983	MAST1	OMIM:618273
HP:0000006	Autosomal dominant inheritance	55145	THAP1	OMIM:602629
HP:0000006	Autosomal dominant inheritance	745	MYRF	OMIM:618280
HP:0000006	Autosomal dominant inheritance	745	MYRF	OMIM:618113
HP:0000006	Autosomal dominant inheritance	3549	IHH	OMIM:112500
HP:0000006	Autosomal dominant inheritance	7080	NKX2-1	OMIM:188550
HP:0000006	Autosomal dominant inheritance	7080	NKX2-1	OMIM:118700
HP:0000006	Autosomal dominant inheritance	7080	NKX2-1	OMIM:610978
HP:0000006	Autosomal dominant inheritance	777	CACNA1E	OMIM:618285
HP:0000006	Autosomal dominant inheritance	4781	NFIB	OMIM:618286
HP:0000006	Autosomal dominant inheritance	3851	KRT4	OMIM:193900
HP:0000006	Autosomal dominant inheritance	5970	RELA	OMIM:618287
HP:0000006	Autosomal dominant inheritance	26580	BSCL2	OMIM:270685
HP:0000006	Autosomal dominant inheritance	26580	BSCL2	OMIM:619112
HP:0000006	Autosomal dominant inheritance	221692	PHACTR1	OMIM:618298
HP:0000006	Autosomal dominant inheritance	23224	SYNE2	OMIM:612999
HP:0000006	Autosomal dominant inheritance	23345	SYNE1	OMIM:612998
HP:0000006	Autosomal dominant inheritance	10262	SF3B4	OMIM:154400
HP:0000006	Autosomal dominant inheritance	375	ARF1	OMIM:618185
HP:0000006	Autosomal dominant inheritance	2100	ESR2	OMIM:618187
HP:0000006	Autosomal dominant inheritance	400916	CHCHD10	OMIM:615911
HP:0000006	Autosomal dominant inheritance	400916	CHCHD10	OMIM:615048
HP:0000006	Autosomal dominant inheritance	400916	CHCHD10	OMIM:616209
HP:0000006	Autosomal dominant inheritance	5894	RAF1	OMIM:611554
HP:0000006	Autosomal dominant inheritance	5894	RAF1	OMIM:611553
HP:0000006	Autosomal dominant inheritance	5894	RAF1	OMIM:615916
HP:0000006	Autosomal dominant inheritance	6338	SCNN1B	OMIM:211400
HP:0000006	Autosomal dominant inheritance	6338	SCNN1B	OMIM:177200
HP:0000006	Autosomal dominant inheritance	79755	ZNF750	OMIM:610227
HP:0000006	Autosomal dominant inheritance	4000	LMNA	OMIM:176670
HP:0000006	Autosomal dominant inheritance	4000	LMNA	OMIM:610140
HP:0000006	Autosomal dominant inheritance	4000	LMNA	OMIM:613205
HP:0000006	Autosomal dominant inheritance	4000	LMNA	OMIM:151660
HP:0000006	Autosomal dominant inheritance	4000	LMNA	OMIM:181350
HP:0000006	Autosomal dominant inheritance	4000	LMNA	OMIM:212112
HP:0000006	Autosomal dominant inheritance	4000	LMNA	OMIM:115200
HP:0000006	Autosomal dominant inheritance	4000	LMNA	OMIM:619793
HP:0000006	Autosomal dominant inheritance	3239	HOXD13	OMIM:186000
HP:0000006	Autosomal dominant inheritance	3239	HOXD13	OMIM:113300
HP:0000006	Autosomal dominant inheritance	3239	HOXD13	OMIM:186300
HP:0000006	Autosomal dominant inheritance	3239	HOXD13	OMIM:113200
HP:0000006	Autosomal dominant inheritance	2050	EPHB4	OMIM:618196
HP:0000006	Autosomal dominant inheritance	2050	EPHB4	OMIM:617300
HP:0000006	Autosomal dominant inheritance	9128	PRPF4	OMIM:615922
HP:0000006	Autosomal dominant inheritance	4882	NPR2	OMIM:615923
HP:0000006	Autosomal dominant inheritance	4882	NPR2	OMIM:616255
HP:0000006	Autosomal dominant inheritance	846	CASR	OMIM:612899
HP:0000006	Autosomal dominant inheritance	846	CASR	OMIM:239200
HP:0000006	Autosomal dominant inheritance	846	CASR	OMIM:601198
HP:0000006	Autosomal dominant inheritance	846	CASR	OMIM:145980
HP:0000006	Autosomal dominant inheritance	2693	GHSR	OMIM:615925
HP:0000006	Autosomal dominant inheritance	2022	ENG	OMIM:187300
HP:0000006	Autosomal dominant inheritance	1687	GSDME	OMIM:600994
HP:0000006	Autosomal dominant inheritance	1427	CRYGS	OMIM:116100
HP:0000006	Autosomal dominant inheritance	1029	CDKN2A	OMIM:155755
HP:0000006	Autosomal dominant inheritance	1029	CDKN2A	OMIM:606719
HP:0000006	Autosomal dominant inheritance	1029	CDKN2A	OMIM:155601
HP:0000006	Autosomal dominant inheritance	340061	STING1	OMIM:615934
HP:0000006	Autosomal dominant inheritance	5173	PDYN	OMIM:610245
HP:0000006	Autosomal dominant inheritance	10939	AFG3L2	OMIM:610246
HP:0000006	Autosomal dominant inheritance	10939	AFG3L2	OMIM:618977
HP:0000006	Autosomal dominant inheritance	10000	AKT3	OMIM:615937
HP:0000006	Autosomal dominant inheritance	894	CCND2	OMIM:615938
HP:0000006	Autosomal dominant inheritance	8289	ARID1A	OMIM:614607
HP:0000006	Autosomal dominant inheritance	3849	KRT2	OMIM:146800
HP:0000006	Autosomal dominant inheritance	6597	SMARCA4	OMIM:614609
HP:0000006	Autosomal dominant inheritance	6597	SMARCA4	OMIM:613325
HP:0000006	Autosomal dominant inheritance	6597	SMARCA4	OMIM:620792
HP:0000006	Autosomal dominant inheritance	4212	MEIS2	OMIM:600987
HP:0000006	Autosomal dominant inheritance	217	ALDH2	OMIM:610251
HP:0000006	Autosomal dominant inheritance	79813	EHMT1	OMIM:610253
HP:0000006	Autosomal dominant inheritance	6663	SOX10	OMIM:611584
HP:0000006	Autosomal dominant inheritance	6663	SOX10	OMIM:609136
HP:0000006	Autosomal dominant inheritance	6663	SOX10	OMIM:613266
HP:0000006	Autosomal dominant inheritance	5144	PDE4D	OMIM:614613
HP:0000006	Autosomal dominant inheritance	1600	DAB1	OMIM:615945
HP:0000006	Autosomal dominant inheritance	388551	CEACAM16	OMIM:614614
HP:0000006	Autosomal dominant inheritance	4582	MUC1	OMIM:174000
HP:0000006	Autosomal dominant inheritance	9152	SLC6A5	OMIM:614618
HP:0000006	Autosomal dominant inheritance	3265	HRAS	OMIM:218040
HP:0000006	Autosomal dominant inheritance	3265	HRAS	OMIM:109800
HP:0000006	Autosomal dominant inheritance	3265	HRAS	OMIM:188470
HP:0000006	Autosomal dominant inheritance	283375	SLC39A5	OMIM:615946
HP:0000006	Autosomal dominant inheritance	2984	GUCY2C	OMIM:614616
HP:0000006	Autosomal dominant inheritance	5925	RB1	OMIM:109800
HP:0000006	Autosomal dominant inheritance	5925	RB1	OMIM:180200
HP:0000006	Autosomal dominant inheritance	5925	RB1	OMIM:182280
HP:0000006	Autosomal dominant inheritance	4292	MLH1	OMIM:609310
HP:0000006	Autosomal dominant inheritance	4292	MLH1	OMIM:158320
HP:0000006	Autosomal dominant inheritance	2335	FN1	OMIM:184255
HP:0000006	Autosomal dominant inheritance	2335	FN1	OMIM:601894
HP:0000006	Autosomal dominant inheritance	1938	EEF2	OMIM:609306
HP:0000006	Autosomal dominant inheritance	83394	PITPNM3	OMIM:600977
HP:0000006	Autosomal dominant inheritance	6774	STAT3	OMIM:615952
HP:0000006	Autosomal dominant inheritance	6774	STAT3	OMIM:147060
HP:0000006	Autosomal dominant inheritance	8419	BFSP2	OMIM:611597
HP:0000006	Autosomal dominant inheritance	79798	ARMC5	OMIM:615954
HP:0000006	Autosomal dominant inheritance	8626	TP63	OMIM:129400
HP:0000006	Autosomal dominant inheritance	8626	TP63	OMIM:620311
HP:0000006	Autosomal dominant inheritance	8626	TP63	OMIM:604292
HP:0000006	Autosomal dominant inheritance	8626	TP63	OMIM:603543
HP:0000006	Autosomal dominant inheritance	8626	TP63	OMIM:106260
HP:0000006	Autosomal dominant inheritance	8626	TP63	OMIM:103285
HP:0000006	Autosomal dominant inheritance	8626	TP63	OMIM:605289
HP:0000006	Autosomal dominant inheritance	60481	ELOVL5	OMIM:615957
HP:0000006	Autosomal dominant inheritance	1299	COL9A3	OMIM:600969
HP:0000006	Autosomal dominant inheritance	2908	NR3C1	OMIM:615962
HP:0000006	Autosomal dominant inheritance	7148	TNXB	OMIM:615963
HP:0000006	Autosomal dominant inheritance	488	ATP2A2	OMIM:101900
HP:0000006	Autosomal dominant inheritance	488	ATP2A2	OMIM:124200
HP:0000006	Autosomal dominant inheritance	6231	RPS26	OMIM:613309
HP:0000006	Autosomal dominant inheritance	6204	RPS10	OMIM:613308
HP:0000006	Autosomal dominant inheritance	7369	UMOD	OMIM:162000
HP:0000006	Autosomal dominant inheritance	174	AFP	OMIM:615970
HP:0000006	Autosomal dominant inheritance	23554	TSPAN12	OMIM:613310
HP:0000006	Autosomal dominant inheritance	26022	TMEM98	OMIM:615972
HP:0000006	Autosomal dominant inheritance	3459	IFNGR1	OMIM:615978
HP:0000006	Autosomal dominant inheritance	611	OPN1SW	OMIM:190900
HP:0000006	Autosomal dominant inheritance	27429	HTRA2	OMIM:610297
HP:0000006	Autosomal dominant inheritance	5054	SERPINE1	OMIM:613329
HP:0000006	Autosomal dominant inheritance	10382	TUBB4A	OMIM:128101
HP:0000006	Autosomal dominant inheritance	10382	TUBB4A	OMIM:612438
HP:0000006	Autosomal dominant inheritance	1861	TOR1A	OMIM:128100
HP:0000006	Autosomal dominant inheritance	10878	CFHR3	OMIM:235400
HP:0000006	Autosomal dominant inheritance	10878	CFHR3	OMIM:603075
HP:0000006	Autosomal dominant inheritance	3075	CFH	OMIM:235400
HP:0000006	Autosomal dominant inheritance	3075	CFH	OMIM:609814
HP:0000006	Autosomal dominant inheritance	3075	CFH	OMIM:126700
HP:0000006	Autosomal dominant inheritance	3075	CFH	OMIM:610698
HP:0000006	Autosomal dominant inheritance	3078	CFHR1	OMIM:235400
HP:0000006	Autosomal dominant inheritance	3078	CFHR1	OMIM:603075
HP:0000006	Autosomal dominant inheritance	51621	KLF13	OMIM:612001
HP:0000006	Autosomal dominant inheritance	1139	CHRNA7	OMIM:612001
HP:0000006	Autosomal dominant inheritance	3290	HSD11B1	OMIM:614662
HP:0000006	Autosomal dominant inheritance	213	ALB	OMIM:615999
HP:0000006	Autosomal dominant inheritance	5332	PLCB4	OMIM:614669
HP:0000006	Autosomal dominant inheritance	54205	CYCS	OMIM:612004
HP:0000006	Autosomal dominant inheritance	85358	SHANK3	OMIM:606232
HP:0000006	Autosomal dominant inheritance	85358	SHANK3	OMIM:613950
HP:0000006	Autosomal dominant inheritance	10516	FBLN5	OMIM:608895
HP:0000006	Autosomal dominant inheritance	10516	FBLN5	OMIM:614434
HP:0000006	Autosomal dominant inheritance	10516	FBLN5	OMIM:619764
HP:0000006	Autosomal dominant inheritance	4920	ROR2	OMIM:113000
HP:0000006	Autosomal dominant inheritance	6731	SRP72	OMIM:614675
HP:0000006	Autosomal dominant inheritance	287	ANK2	OMIM:600919
HP:0000006	Autosomal dominant inheritance	3350	HTR1A	OMIM:614674
HP:0000006	Autosomal dominant inheritance	387700	SLC16A12	OMIM:612018
HP:0000006	Autosomal dominant inheritance	79728	PALB2	OMIM:613348
HP:0000006	Autosomal dominant inheritance	79728	PALB2	OMIM:620442
HP:0000006	Autosomal dominant inheritance	324	APC	OMIM:135290
HP:0000006	Autosomal dominant inheritance	324	APC	OMIM:114500
HP:0000006	Autosomal dominant inheritance	324	APC	OMIM:619182
HP:0000006	Autosomal dominant inheritance	324	APC	OMIM:175100
HP:0000006	Autosomal dominant inheritance	3784	KCNQ1	OMIM:607554
HP:0000006	Autosomal dominant inheritance	3784	KCNQ1	OMIM:130650
HP:0000006	Autosomal dominant inheritance	3784	KCNQ1	OMIM:192500
HP:0000006	Autosomal dominant inheritance	3784	KCNQ1	OMIM:609621
HP:0000006	Autosomal dominant inheritance	78987	CRELD1	OMIM:606217
HP:0000006	Autosomal dominant inheritance	7784	ZP3	OMIM:617712
HP:0000006	Autosomal dominant inheritance	79628	SH3TC2	OMIM:613353
HP:0000006	Autosomal dominant inheritance	4487	MSX1	OMIM:608874
HP:0000006	Autosomal dominant inheritance	4487	MSX1	OMIM:189500
HP:0000006	Autosomal dominant inheritance	4487	MSX1	OMIM:106600
HP:0000006	Autosomal dominant inheritance	7045	TGFBI	OMIM:607541
HP:0000006	Autosomal dominant inheritance	7045	TGFBI	OMIM:122200
HP:0000006	Autosomal dominant inheritance	7045	TGFBI	OMIM:121820
HP:0000006	Autosomal dominant inheritance	7045	TGFBI	OMIM:608470
HP:0000006	Autosomal dominant inheritance	7045	TGFBI	OMIM:608471
HP:0000006	Autosomal dominant inheritance	7045	TGFBI	OMIM:121900
HP:0000006	Autosomal dominant inheritance	7045	TGFBI	OMIM:602082
HP:0000006	Autosomal dominant inheritance	7453	WARS1	OMIM:617721
HP:0000006	Autosomal dominant inheritance	4771	NF2	OMIM:101000
HP:0000006	Autosomal dominant inheritance	4771	NF2	OMIM:607174
HP:0000006	Autosomal dominant inheritance	2006	ELN	OMIM:185500
HP:0000006	Autosomal dominant inheritance	2006	ELN	OMIM:123700
HP:0000006	Autosomal dominant inheritance	2006	ELN	OMIM:194050
HP:0000006	Autosomal dominant inheritance	8988	HSPB3	OMIM:613376
HP:0000006	Autosomal dominant inheritance	640	BLK	OMIM:613375
HP:0000006	Autosomal dominant inheritance	84617	TUBB6	OMIM:617732
HP:0000006	Autosomal dominant inheritance	162514	TRPV3	OMIM:616400
HP:0000006	Autosomal dominant inheritance	162514	TRPV3	OMIM:614594
HP:0000006	Autosomal dominant inheritance	1917	EEF1A2	OMIM:616409
HP:0000006	Autosomal dominant inheritance	1917	EEF1A2	OMIM:616393
HP:0000006	Autosomal dominant inheritance	7222	TRPC3	OMIM:616410
HP:0000006	Autosomal dominant inheritance	5744	PTHLH	OMIM:613382
HP:0000006	Autosomal dominant inheritance	1314	COPA	OMIM:616414
HP:0000006	Autosomal dominant inheritance	9213	XPR1	OMIM:616413
HP:0000006	Autosomal dominant inheritance	4780	NFE2L2	OMIM:617744
HP:0000006	Autosomal dominant inheritance	54805	CNNM2	OMIM:616418
HP:0000006	Autosomal dominant inheritance	54805	CNNM2	OMIM:613882
HP:0000006	Autosomal dominant inheritance	10342	TFG	OMIM:604484
HP:0000006	Autosomal dominant inheritance	4626	MYH8	OMIM:608837
HP:0000006	Autosomal dominant inheritance	4626	MYH8	OMIM:158300
HP:0000006	Autosomal dominant inheritance	6529	SLC6A1	OMIM:616421
HP:0000006	Autosomal dominant inheritance	9320	TRIP12	OMIM:617752
HP:0000006	Autosomal dominant inheritance	5879	RAC1	OMIM:617751
HP:0000006	Autosomal dominant inheritance	6662	SOX9	OMIM:616425
HP:0000006	Autosomal dominant inheritance	6662	SOX9	OMIM:278850
HP:0000006	Autosomal dominant inheritance	6662	SOX9	OMIM:114290
HP:0000006	Autosomal dominant inheritance	2186	BPTF	OMIM:617755
HP:0000006	Autosomal dominant inheritance	2186	BPTF	OMIM:148000
HP:0000006	Autosomal dominant inheritance	23435	TARDBP	OMIM:612069
HP:0000006	Autosomal dominant inheritance	5950	RBP4	OMIM:616428
HP:0000006	Autosomal dominant inheritance	4148	MATN3	OMIM:140600
HP:0000006	Autosomal dominant inheritance	4148	MATN3	OMIM:607078
HP:0000006	Autosomal dominant inheritance	56606	SLC2A9	OMIM:612076
HP:0000006	Autosomal dominant inheritance	5649	RELN	OMIM:616436
HP:0000006	Autosomal dominant inheritance	5649	RELN	OMIM:600512
HP:0000006	Autosomal dominant inheritance	359948	IRF2BP2	OMIM:617765
HP:0000006	Autosomal dominant inheritance	29110	TBK1	OMIM:616439
HP:0000006	Autosomal dominant inheritance	29110	TBK1	OMIM:617900
HP:0000006	Autosomal dominant inheritance	2196	FAT2	OMIM:617769
HP:0000006	Autosomal dominant inheritance	8878	SQSTM1	OMIM:616437
HP:0000006	Autosomal dominant inheritance	8878	SQSTM1	OMIM:167250
HP:0000006	Autosomal dominant inheritance	8878	SQSTM1	OMIM:617158
HP:0000006	Autosomal dominant inheritance	58508	KMT2C	OMIM:617768
HP:0000006	Autosomal dominant inheritance	8074	FGF23	OMIM:193100
HP:0000006	Autosomal dominant inheritance	6647	SOD1	OMIM:105400
HP:0000006	Autosomal dominant inheritance	5630	PRPH	OMIM:105400
HP:0000006	Autosomal dominant inheritance	4744	NEFH	OMIM:105400
HP:0000006	Autosomal dominant inheritance	4744	NEFH	OMIM:616924
HP:0000006	Autosomal dominant inheritance	2200	FBN1	OMIM:102370
HP:0000006	Autosomal dominant inheritance	2200	FBN1	OMIM:604308
HP:0000006	Autosomal dominant inheritance	2200	FBN1	OMIM:154700
HP:0000006	Autosomal dominant inheritance	2200	FBN1	OMIM:129600
HP:0000006	Autosomal dominant inheritance	2200	FBN1	OMIM:616914
HP:0000006	Autosomal dominant inheritance	2200	FBN1	OMIM:614185
HP:0000006	Autosomal dominant inheritance	2200	FBN1	OMIM:184900
HP:0000006	Autosomal dominant inheritance	2200	FBN1	OMIM:608328
HP:0000006	Autosomal dominant inheritance	1144	CHRND	OMIM:616321
HP:0000006	Autosomal dominant inheritance	6777	STAT5B	OMIM:618985
HP:0000006	Autosomal dominant inheritance	5880	RAC2	OMIM:618986
HP:0000006	Autosomal dominant inheritance	5880	RAC2	OMIM:608203
HP:0000006	Autosomal dominant inheritance	3767	KCNJ11	OMIM:616329
HP:0000006	Autosomal dominant inheritance	3767	KCNJ11	OMIM:618856
HP:0000006	Autosomal dominant inheritance	3767	KCNJ11	OMIM:610582
HP:0000006	Autosomal dominant inheritance	5521	PPP2R2B	OMIM:604326
HP:0000006	Autosomal dominant inheritance	3872	KRT17	OMIM:184500
HP:0000006	Autosomal dominant inheritance	3872	KRT17	OMIM:167210
HP:0000006	Autosomal dominant inheritance	374462	PTPRQ	OMIM:617663
HP:0000006	Autosomal dominant inheritance	6616	SNAP25	OMIM:616330
HP:0000006	Autosomal dominant inheritance	57582	KCNT1	OMIM:615005
HP:0000006	Autosomal dominant inheritance	57582	KCNT1	OMIM:614959
HP:0000006	Autosomal dominant inheritance	7532	YWHAG	OMIM:617665
HP:0000006	Autosomal dominant inheritance	55690	PACS1	OMIM:615009
HP:0000006	Autosomal dominant inheritance	3716	JAK1	OMIM:618999
HP:0000006	Autosomal dominant inheritance	219285	SAMD9L	OMIM:159550
HP:0000006	Autosomal dominant inheritance	219285	SAMD9L	OMIM:619806
HP:0000006	Autosomal dominant inheritance	9885	OSBPL2	OMIM:616340
HP:0000006	Autosomal dominant inheritance	55154	MSTO1	OMIM:617675
HP:0000006	Autosomal dominant inheritance	7343	UBTF	OMIM:617672
HP:0000006	Autosomal dominant inheritance	150094	SIK1	OMIM:616341
HP:0000006	Autosomal dominant inheritance	1759	DNM1	OMIM:616346
HP:0000006	Autosomal dominant inheritance	6100	RP9	OMIM:180104
HP:0000006	Autosomal dominant inheritance	3614	IMPDH1	OMIM:180105
HP:0000006	Autosomal dominant inheritance	3614	IMPDH1	OMIM:613837
HP:0000006	Autosomal dominant inheritance	4620	MYH2	OMIM:605637
HP:0000006	Autosomal dominant inheritance	1420	CRYGC	OMIM:604307
HP:0000006	Autosomal dominant inheritance	6926	TBX3	OMIM:181450
HP:0000006	Autosomal dominant inheritance	10087	CERT1	OMIM:616351
HP:0000006	Autosomal dominant inheritance	1105	CHD1	OMIM:617682
HP:0000006	Autosomal dominant inheritance	1500	CTNND1	OMIM:617681
HP:0000006	Autosomal dominant inheritance	5528	PPP2R5D	OMIM:616355
HP:0000006	Autosomal dominant inheritance	1428	CRYM	OMIM:616357
HP:0000006	Autosomal dominant inheritance	55526	DHTKD1	OMIM:615025
HP:0000006	Autosomal dominant inheritance	55065	SLC52A1	OMIM:615026
HP:0000006	Autosomal dominant inheritance	26040	SETBP1	OMIM:269150
HP:0000006	Autosomal dominant inheritance	26040	SETBP1	OMIM:616078
HP:0000006	Autosomal dominant inheritance	9241	NOG	OMIM:185800
HP:0000006	Autosomal dominant inheritance	9241	NOG	OMIM:611377
HP:0000006	Autosomal dominant inheritance	9241	NOG	OMIM:184460
HP:0000006	Autosomal dominant inheritance	9241	NOG	OMIM:186570
HP:0000006	Autosomal dominant inheritance	9241	NOG	OMIM:186500
HP:0000006	Autosomal dominant inheritance	5518	PPP2R1A	OMIM:616362
HP:0000006	Autosomal dominant inheritance	2153	F5	OMIM:188055
HP:0000006	Autosomal dominant inheritance	2153	F5	OMIM:614389
HP:0000006	Autosomal dominant inheritance	2911	GRM1	OMIM:617691
HP:0000006	Autosomal dominant inheritance	7450	VWF	OMIM:193400
HP:0000006	Autosomal dominant inheritance	7450	VWF	OMIM:613554
HP:0000006	Autosomal dominant inheritance	3737	KCNA2	OMIM:616366
HP:0000006	Autosomal dominant inheritance	63982	ANO3	OMIM:615034
HP:0000006	Autosomal dominant inheritance	23126	POGZ	OMIM:616364
HP:0000006	Autosomal dominant inheritance	57680	CHD8	OMIM:615032
HP:0000006	Autosomal dominant inheritance	2162	F13A1	OMIM:188050
HP:0000006	Autosomal dominant inheritance	2147	F2	OMIM:188050
HP:0000006	Autosomal dominant inheritance	2147	F2	OMIM:614390
HP:0000006	Autosomal dominant inheritance	4524	MTHFR	OMIM:188050
HP:0000006	Autosomal dominant inheritance	4524	MTHFR	OMIM:181500
HP:0000006	Autosomal dominant inheritance	27125	AFF4	OMIM:616368
HP:0000006	Autosomal dominant inheritance	1909	EDNRA	OMIM:616367
HP:0000006	Autosomal dominant inheritance	1909	EDNRA	OMIM:157300
HP:0000006	Autosomal dominant inheritance	58	ACTA1	OMIM:161800
HP:0000006	Autosomal dominant inheritance	58	ACTA1	OMIM:620278
HP:0000006	Autosomal dominant inheritance	58	ACTA1	OMIM:616852
HP:0000006	Autosomal dominant inheritance	6101	RP1	OMIM:180100
HP:0000006	Autosomal dominant inheritance	2138	EYA1	OMIM:602588
HP:0000006	Autosomal dominant inheritance	2138	EYA1	OMIM:166780
HP:0000006	Autosomal dominant inheritance	2138	EYA1	OMIM:113650
HP:0000006	Autosomal dominant inheritance	5073	PARN	OMIM:616371
HP:0000006	Autosomal dominant inheritance	7075	TIE1	OMIM:619401
HP:0000006	Autosomal dominant inheritance	8989	TRPA1	OMIM:615040
HP:0000006	Autosomal dominant inheritance	80206	FHOD3	OMIM:619402
HP:0000006	Autosomal dominant inheritance	326	AIRE	OMIM:240300
HP:0000006	Autosomal dominant inheritance	5741	PTH	OMIM:146200
HP:0000006	Autosomal dominant inheritance	6635	SNRPE	OMIM:615059
HP:0000006	Autosomal dominant inheritance	6578	SLCO2A1	OMIM:167100
HP:0000006	Autosomal dominant inheritance	55505	NOP10	OMIM:620400
HP:0000006	Autosomal dominant inheritance	5959	RDH5	OMIM:136880
HP:0000006	Autosomal dominant inheritance	6017	RLBP1	OMIM:136880
HP:0000006	Autosomal dominant inheritance	3752	KCND3	OMIM:616399
HP:0000006	Autosomal dominant inheritance	3752	KCND3	OMIM:607346
HP:0000006	Autosomal dominant inheritance	79734	KCTD17	OMIM:616398
HP:0000006	Autosomal dominant inheritance	2202	EFEMP1	OMIM:126600
HP:0000006	Autosomal dominant inheritance	2202	EFEMP1	OMIM:611276
HP:0000006	Autosomal dominant inheritance	171546	SPTSSA	OMIM:620416
HP:0000006	Autosomal dominant inheritance	7227	TRPS1	OMIM:190350
HP:0000006	Autosomal dominant inheritance	7227	TRPS1	OMIM:190351
HP:0000006	Autosomal dominant inheritance	7046	TGFBR1	OMIM:609192
HP:0000006	Autosomal dominant inheritance	7046	TGFBR1	OMIM:132800
HP:0000006	Autosomal dominant inheritance	1642	DDB1	OMIM:619426
HP:0000006	Autosomal dominant inheritance	81603	TRIM8	OMIM:619428
HP:0000006	Autosomal dominant inheritance	8322	FZD4	OMIM:133780
HP:0000006	Autosomal dominant inheritance	57459	GATAD2B	OMIM:615074
HP:0000006	Autosomal dominant inheritance	1499	CTNNB1	OMIM:615075
HP:0000006	Autosomal dominant inheritance	1499	CTNNB1	OMIM:114500
HP:0000006	Autosomal dominant inheritance	1499	CTNNB1	OMIM:617572
HP:0000006	Autosomal dominant inheritance	1499	CTNNB1	OMIM:167000
HP:0000006	Autosomal dominant inheritance	1499	CTNNB1	OMIM:155255
HP:0000006	Autosomal dominant inheritance	2774	GNAL	OMIM:615073
HP:0000006	Autosomal dominant inheritance	56896	DPYSL5	OMIM:619435
HP:0000006	Autosomal dominant inheritance	72	ACTG2	OMIM:619431
HP:0000006	Autosomal dominant inheritance	72	ACTG2	OMIM:155310
HP:0000006	Autosomal dominant inheritance	6418	SET	OMIM:618106
HP:0000006	Autosomal dominant inheritance	22806	IKZF3	OMIM:619437
HP:0000006	Autosomal dominant inheritance	9842	PLEKHM1	OMIM:618107
HP:0000006	Autosomal dominant inheritance	23078	VWA8	OMIM:620422
HP:0000006	Autosomal dominant inheritance	4838	NODAL	OMIM:270100
HP:0000006	Autosomal dominant inheritance	317719	KLHL10	OMIM:615081
HP:0000006	Autosomal dominant inheritance	6299	SALL1	OMIM:107480
HP:0000006	Autosomal dominant inheritance	1747	DLX3	OMIM:190320
HP:0000006	Autosomal dominant inheritance	1747	DLX3	OMIM:104510
HP:0000006	Autosomal dominant inheritance	5426	POLE	OMIM:615083
HP:0000006	Autosomal dominant inheritance	6340	SCNN1G	OMIM:618114
HP:0000006	Autosomal dominant inheritance	6340	SCNN1G	OMIM:613071
HP:0000006	Autosomal dominant inheritance	402381	SOHLH1	OMIM:618115
HP:0000006	Autosomal dominant inheritance	23524	SRRM2	OMIM:620439
HP:0000006	Autosomal dominant inheritance	3064	HTT	OMIM:143100
HP:0000006	Autosomal dominant inheritance	23405	DICER1	OMIM:601200
HP:0000006	Autosomal dominant inheritance	23405	DICER1	OMIM:138800
HP:0000006	Autosomal dominant inheritance	57534	MIB1	OMIM:615092
HP:0000006	Autosomal dominant inheritance	6337	SCNN1A	OMIM:618126
HP:0000006	Autosomal dominant inheritance	6337	SCNN1A	OMIM:613021
HP:0000006	Autosomal dominant inheritance	3756	KCNH1	OMIM:135500
HP:0000006	Autosomal dominant inheritance	3756	KCNH1	OMIM:611816
HP:0000006	Autosomal dominant inheritance	8622	PDE8B	OMIM:609161
HP:0000006	Autosomal dominant inheritance	8622	PDE8B	OMIM:614190
HP:0000006	Autosomal dominant inheritance	51704	GPRC5B	OMIM:620447
HP:0000006	Autosomal dominant inheritance	361	AQP4	OMIM:620448
HP:0000006	Autosomal dominant inheritance	825	CAPN3	OMIM:618129
HP:0000006	Autosomal dominant inheritance	6775	STAT4	OMIM:620443
HP:0000006	Autosomal dominant inheritance	344167	FOXI3	OMIM:620444
HP:0000006	Autosomal dominant inheritance	6045	RNF2	OMIM:619460
HP:0000006	Autosomal dominant inheritance	4627	MYH9	OMIM:155100
HP:0000006	Autosomal dominant inheritance	4627	MYH9	OMIM:603622
HP:0000006	Autosomal dominant inheritance	22852	ANKRD26	OMIM:188000
HP:0000006	Autosomal dominant inheritance	164	AP1G1	OMIM:619467
HP:0000006	Autosomal dominant inheritance	1814	DRD3	OMIM:190300
HP:0000006	Autosomal dominant inheritance	1814	DRD3	OMIM:181500
HP:0000006	Autosomal dominant inheritance	7253	TSHR	OMIM:609152
HP:0000006	Autosomal dominant inheritance	7253	TSHR	OMIM:603373
HP:0000006	Autosomal dominant inheritance	10058	ABCB6	OMIM:609153
HP:0000006	Autosomal dominant inheritance	10058	ABCB6	OMIM:614497
HP:0000006	Autosomal dominant inheritance	10058	ABCB6	OMIM:615402
HP:0000006	Autosomal dominant inheritance	56980	PRDM10	OMIM:620459
HP:0000006	Autosomal dominant inheritance	9734	HDAC9	OMIM:620457
HP:0000006	Autosomal dominant inheritance	1974	EIF4A2	OMIM:620455
HP:0000006	Autosomal dominant inheritance	29967	LRP12	OMIM:620452
HP:0000006	Autosomal dominant inheritance	29967	LRP12	OMIM:164310
HP:0000006	Autosomal dominant inheritance	6324	SCN1B	OMIM:612838
HP:0000006	Autosomal dominant inheritance	6324	SCN1B	OMIM:604233
HP:0000006	Autosomal dominant inheritance	6324	SCN1B	OMIM:615377
HP:0000006	Autosomal dominant inheritance	6874	TAF4	OMIM:620450
HP:0000006	Autosomal dominant inheritance	79736	TEFM	OMIM:620451
HP:0000006	Autosomal dominant inheritance	5137	PDE1C	OMIM:618140
HP:0000006	Autosomal dominant inheritance	8812	CCNK	OMIM:618147
HP:0000006	Autosomal dominant inheritance	3236	HOXD10	OMIM:192950
HP:0000006	Autosomal dominant inheritance	23316	CUX2	OMIM:618141
HP:0000006	Autosomal dominant inheritance	100996717	NOTCH2NLC	OMIM:619473
HP:0000006	Autosomal dominant inheritance	100996717	NOTCH2NLC	OMIM:618866
HP:0000006	Autosomal dominant inheritance	100996717	NOTCH2NLC	OMIM:603472
HP:0000006	Autosomal dominant inheritance	6711	SPTBN1	OMIM:619475
HP:0000006	Autosomal dominant inheritance	6935	ZEB1	OMIM:609141
HP:0000006	Autosomal dominant inheritance	1296	COL8A2	OMIM:609140
HP:0000006	Autosomal dominant inheritance	1296	COL8A2	OMIM:136800
HP:0000006	Autosomal dominant inheritance	79574	EPS8L3	OMIM:612841
HP:0000006	Autosomal dominant inheritance	4436	MSH2	OMIM:120435
HP:0000006	Autosomal dominant inheritance	4436	MSH2	OMIM:158320
HP:0000006	Autosomal dominant inheritance	5378	PMS1	OMIM:120435
HP:0000006	Autosomal dominant inheritance	527	ATP6V0C	OMIM:620465
HP:0000006	Autosomal dominant inheritance	10413	YAP1	OMIM:120433
HP:0000006	Autosomal dominant inheritance	3181	HNRNPA2B1	OMIM:620460
HP:0000006	Autosomal dominant inheritance	3181	HNRNPA2B1	OMIM:615422
HP:0000006	Autosomal dominant inheritance	11198	SUPT16H	OMIM:619480
HP:0000006	Autosomal dominant inheritance	1412	CRYBA2	OMIM:115900
HP:0000006	Autosomal dominant inheritance	25839	COG4	OMIM:618150
HP:0000006	Autosomal dominant inheritance	5058	PAK1	OMIM:618158
HP:0000006	Autosomal dominant inheritance	23385	NCSTN	OMIM:142690
HP:0000006	Autosomal dominant inheritance	7066	THPO	OMIM:620478
HP:0000006	Autosomal dominant inheritance	7066	THPO	OMIM:187950
HP:0000006	Autosomal dominant inheritance	3145	HMBS	OMIM:176000
HP:0000006	Autosomal dominant inheritance	60	ACTB	OMIM:620475
HP:0000006	Autosomal dominant inheritance	60	ACTB	OMIM:243310
HP:0000006	Autosomal dominant inheritance	60	ACTB	OMIM:607371
HP:0000006	Autosomal dominant inheritance	3728	JUP	OMIM:611528
HP:0000006	Autosomal dominant inheritance	3921	RPSA	OMIM:271400
HP:0000006	Autosomal dominant inheritance	5660	PSAP	OMIM:619491
HP:0000006	Autosomal dominant inheritance	25978	CHMP2B	OMIM:600795
HP:0000006	Autosomal dominant inheritance	81624	DIAPH3	OMIM:609129
HP:0000006	Autosomal dominant inheritance	5745	PTH1R	OMIM:156400
HP:0000006	Autosomal dominant inheritance	5745	PTH1R	OMIM:125350
HP:0000006	Autosomal dominant inheritance	4221	MEN1	OMIM:131100
HP:0000006	Autosomal dominant inheritance	84231	TRAF7	OMIM:618164
HP:0000006	Autosomal dominant inheritance	116519	APOA5	OMIM:145750
HP:0000006	Autosomal dominant inheritance	116519	APOA5	OMIM:144650
HP:0000006	Autosomal dominant inheritance	4094	MAF	OMIM:610202
HP:0000006	Autosomal dominant inheritance	4094	MAF	OMIM:601088
HP:0000006	Autosomal dominant inheritance	4853	NOTCH2	OMIM:610205
HP:0000006	Autosomal dominant inheritance	4853	NOTCH2	OMIM:102500
HP:0000006	Autosomal dominant inheritance	7171	TPM4	OMIM:620486
HP:0000006	Autosomal dominant inheritance	403	ARL3	OMIM:618173
HP:0000006	Autosomal dominant inheritance	4921	DDR2	OMIM:618175
HP:0000006	Autosomal dominant inheritance	4327	MMP19	OMIM:611543
HP:0000006	Autosomal dominant inheritance	1414	CRYBB1	OMIM:611544
HP:0000006	Autosomal dominant inheritance	1584	CYP11B1	OMIM:103900
HP:0000006	Autosomal dominant inheritance	9987	HNRNPDL	OMIM:609115
HP:0000006	Autosomal dominant inheritance	135935	NOBOX	OMIM:611548
HP:0000006	Autosomal dominant inheritance	9898	UBAP2L	OMIM:620494
HP:0000006	Autosomal dominant inheritance	6235	RPS29	OMIM:615909
HP:0000006	Autosomal dominant inheritance	7424	VEGFC	OMIM:615907
HP:0000006	Autosomal dominant inheritance	6095	RORA	OMIM:618060
HP:0000006	Autosomal dominant inheritance	51726	DNAJB11	OMIM:618061
HP:0000006	Autosomal dominant inheritance	677814	SNORA31	OMIM:619396
HP:0000006	Autosomal dominant inheritance	23241	PACS2	OMIM:618067
HP:0000006	Autosomal dominant inheritance	161742	SPRED1	OMIM:611431
HP:0000006	Autosomal dominant inheritance	50717	DCAF8	OMIM:610100
HP:0000006	Autosomal dominant inheritance	673	BRAF	OMIM:115150
HP:0000006	Autosomal dominant inheritance	673	BRAF	OMIM:114500
HP:0000006	Autosomal dominant inheritance	673	BRAF	OMIM:211980
HP:0000006	Autosomal dominant inheritance	673	BRAF	OMIM:613707
HP:0000006	Autosomal dominant inheritance	673	BRAF	OMIM:613706
HP:0000006	Autosomal dominant inheritance	673	BRAF	OMIM:155600
HP:0000006	Autosomal dominant inheritance	673	BRAF	OMIM:163950
HP:0000006	Autosomal dominant inheritance	7138	TNNT1	OMIM:620389
HP:0000006	Autosomal dominant inheritance	9839	ZEB2	OMIM:235730
HP:0000006	Autosomal dominant inheritance	23250	ATP11A	OMIM:620384
HP:0000006	Autosomal dominant inheritance	23250	ATP11A	OMIM:619810
HP:0000006	Autosomal dominant inheritance	1411	CRYBA1	OMIM:600881
HP:0000006	Autosomal dominant inheritance	7879	RAB7A	OMIM:600882
HP:0000006	Autosomal dominant inheritance	27327	TNRC6A	OMIM:618074
HP:0000006	Autosomal dominant inheritance	2512	FTL	OMIM:600886
HP:0000006	Autosomal dominant inheritance	2512	FTL	OMIM:606159
HP:0000006	Autosomal dominant inheritance	2512	FTL	OMIM:615604
HP:0000006	Autosomal dominant inheritance	9693	RAPGEF2	OMIM:618075
HP:0000006	Autosomal dominant inheritance	55765	INAVA	OMIM:618077
HP:0000006	Autosomal dominant inheritance	843	CASP10	OMIM:603909
HP:0000006	Autosomal dominant inheritance	144568	A2ML1	OMIM:166760
HP:0000006	Autosomal dominant inheritance	10225	CD96	OMIM:211750
HP:0000006	Autosomal dominant inheritance	200576	PIKFYVE	OMIM:121850
HP:0000006	Autosomal dominant inheritance	1301	COL11A1	OMIM:154780
HP:0000006	Autosomal dominant inheritance	1301	COL11A1	OMIM:604841
HP:0000006	Autosomal dominant inheritance	1301	COL11A1	OMIM:618533
HP:0000006	Autosomal dominant inheritance	6005	RHAG	OMIM:185000
HP:0000006	Autosomal dominant inheritance	6005	RHAG	OMIM:268150
HP:0000006	Autosomal dominant inheritance	8913	CACNA1G	OMIM:618087
HP:0000006	Autosomal dominant inheritance	8913	CACNA1G	OMIM:616795
HP:0000006	Autosomal dominant inheritance	64207	IRF2BPL	OMIM:618088
HP:0000006	Autosomal dominant inheritance	80204	FBXO11	OMIM:618089
HP:0000006	Autosomal dominant inheritance	23522	KAT6B	OMIM:606170
HP:0000006	Autosomal dominant inheritance	23522	KAT6B	OMIM:603736
HP:0000006	Autosomal dominant inheritance	9149	DYRK1B	OMIM:615812
HP:0000006	Autosomal dominant inheritance	5015	OTX2	OMIM:610125
HP:0000006	Autosomal dominant inheritance	5015	OTX2	OMIM:613986
HP:0000006	Autosomal dominant inheritance	9499	MYOT	OMIM:609200
HP:0000006	Autosomal dominant inheritance	10273	STUB1	OMIM:618093
HP:0000006	Autosomal dominant inheritance	64919	BCL11B	OMIM:618092
HP:0000006	Autosomal dominant inheritance	64919	BCL11B	OMIM:617237
HP:0000006	Autosomal dominant inheritance	6885	MAP3K7	OMIM:157800
HP:0000006	Autosomal dominant inheritance	6885	MAP3K7	OMIM:617137
HP:0000006	Autosomal dominant inheritance	11232	POLG2	OMIM:610131
HP:0000006	Autosomal dominant inheritance	1729	DIAPH1	OMIM:124900
HP:0000006	Autosomal dominant inheritance	55636	CHD7	OMIM:214800
HP:0000006	Autosomal dominant inheritance	55636	CHD7	OMIM:612370
HP:0000006	Autosomal dominant inheritance	1906	EDN1	OMIM:612798
HP:0000006	Autosomal dominant inheritance	10522	DEAF1	OMIM:615828
HP:0000006	Autosomal dominant inheritance	27245	AHDC1	OMIM:615829
HP:0000006	Autosomal dominant inheritance	6234	RPS28	OMIM:606164
HP:0000006	Autosomal dominant inheritance	5625	PRODH	OMIM:600850
HP:0000006	Autosomal dominant inheritance	7168	TPM1	OMIM:115196
HP:0000006	Autosomal dominant inheritance	7168	TPM1	OMIM:611878
HP:0000006	Autosomal dominant inheritance	4607	MYBPC3	OMIM:115197
HP:0000006	Autosomal dominant inheritance	4607	MYBPC3	OMIM:615396
HP:0000006	Autosomal dominant inheritance	5566	PRKACA	OMIM:615830
HP:0000006	Autosomal dominant inheritance	5566	PRKACA	OMIM:619142
HP:0000006	Autosomal dominant inheritance	26053	AUTS2	OMIM:615834
HP:0000006	Autosomal dominant inheritance	8557	TCAP	OMIM:607487
HP:0000006	Autosomal dominant inheritance	29914	UBIAD1	OMIM:121800
HP:0000006	Autosomal dominant inheritance	799	CALCR	OMIM:166710
HP:0000006	Autosomal dominant inheritance	8572	PDLIM4	OMIM:166710
HP:0000006	Autosomal dominant inheritance	2896	GRN	OMIM:607485
HP:0000006	Autosomal dominant inheritance	23095	KIF1B	OMIM:118210
HP:0000006	Autosomal dominant inheritance	23095	KIF1B	OMIM:256700
HP:0000006	Autosomal dominant inheritance	64135	IFIH1	OMIM:615846
HP:0000006	Autosomal dominant inheritance	64135	IFIH1	OMIM:182250
HP:0000006	Autosomal dominant inheritance	866	SERPINA6	OMIM:611489
HP:0000006	Autosomal dominant inheritance	2736	GLI2	OMIM:615849
HP:0000006	Autosomal dominant inheritance	2736	GLI2	OMIM:610829
HP:0000006	Autosomal dominant inheritance	25913	POT1	OMIM:615848
HP:0000006	Autosomal dominant inheritance	25913	POT1	OMIM:620367
HP:0000006	Autosomal dominant inheritance	9992	KCNE2	OMIM:611493
HP:0000006	Autosomal dominant inheritance	9992	KCNE2	OMIM:613693
HP:0000006	Autosomal dominant inheritance	3717	JAK2	OMIM:614521
HP:0000006	Autosomal dominant inheritance	3717	JAK2	OMIM:133100
HP:0000006	Autosomal dominant inheritance	3717	JAK2	OMIM:263300
HP:0000006	Autosomal dominant inheritance	3717	JAK2	OMIM:601626
HP:0000006	Autosomal dominant inheritance	2146	EZH2	OMIM:277590
HP:0000006	Autosomal dominant inheritance	7048	TGFBR2	OMIM:610168
HP:0000006	Autosomal dominant inheritance	7048	TGFBR2	OMIM:614331
HP:0000006	Autosomal dominant inheritance	1302	COL11A2	OMIM:614524
HP:0000006	Autosomal dominant inheritance	1302	COL11A2	OMIM:601868
HP:0000006	Autosomal dominant inheritance	1302	COL11A2	OMIM:184840
HP:0000006	Autosomal dominant inheritance	50511	SYCP3	OMIM:270960
HP:0000006	Autosomal dominant inheritance	80331	DNAJC5	OMIM:162350
HP:0000006	Autosomal dominant inheritance	29123	ANKRD11	OMIM:148050
HP:0000006	Autosomal dominant inheritance	2303	FOXC2	OMIM:153400
HP:0000006	Autosomal dominant inheritance	6664	SOX11	OMIM:615866
HP:0000006	Autosomal dominant inheritance	339453	TMEM240	OMIM:607454
HP:0000006	Autosomal dominant inheritance	152137	CCDC50	OMIM:607453
HP:0000006	Autosomal dominant inheritance	23592	LEMD3	OMIM:166700
HP:0000006	Autosomal dominant inheritance	6524	SLC5A2	OMIM:233100
HP:0000006	Autosomal dominant inheritance	5979	RET	OMIM:162300
HP:0000006	Autosomal dominant inheritance	5979	RET	OMIM:142623
HP:0000006	Autosomal dominant inheritance	5979	RET	OMIM:171400
HP:0000006	Autosomal dominant inheritance	5979	RET	OMIM:171300
HP:0000006	Autosomal dominant inheritance	5979	RET	OMIM:155240
HP:0000006	Autosomal dominant inheritance	348980	HCN1	OMIM:615871
HP:0000006	Autosomal dominant inheritance	348980	HCN1	OMIM:618482
HP:0000006	Autosomal dominant inheritance	7026	NR2F2	OMIM:618901
HP:0000006	Autosomal dominant inheritance	7026	NR2F2	OMIM:615779
HP:0000006	Autosomal dominant inheritance	240	ALOX5	OMIM:600807
HP:0000006	Autosomal dominant inheritance	6356	CCL11	OMIM:600807
HP:0000006	Autosomal dominant inheritance	7124	TNF	OMIM:600807
HP:0000006	Autosomal dominant inheritance	7124	TNF	OMIM:157300
HP:0000006	Autosomal dominant inheritance	3176	HNMT	OMIM:600807
HP:0000006	Autosomal dominant inheritance	4589	MUC7	OMIM:600807
HP:0000006	Autosomal dominant inheritance	117156	SCGB3A2	OMIM:600807
HP:0000006	Autosomal dominant inheritance	3135	HLA-G	OMIM:600807
HP:0000006	Autosomal dominant inheritance	3596	IL13	OMIM:600807
HP:0000006	Autosomal dominant inheritance	23394	ADNP	OMIM:615873
HP:0000006	Autosomal dominant inheritance	1788	DNMT3A	OMIM:615879
HP:0000006	Autosomal dominant inheritance	1788	DNMT3A	OMIM:618724
HP:0000006	Autosomal dominant inheritance	1788	DNMT3A	OMIM:601626
HP:0000006	Autosomal dominant inheritance	10586	MAB21L2	OMIM:615877
HP:0000006	Autosomal dominant inheritance	26115	TANC2	OMIM:618906
HP:0000006	Autosomal dominant inheritance	5324	PLAG1	OMIM:618907
HP:0000006	Autosomal dominant inheritance	5324	PLAG1	OMIM:181030
HP:0000006	Autosomal dominant inheritance	8091	HMGA2	OMIM:618908
HP:0000006	Autosomal dominant inheritance	6315	ATXN8OS	OMIM:608768
HP:0000006	Autosomal dominant inheritance	6315	ATXN8OS	OMIM:168600
HP:0000006	Autosomal dominant inheritance	724066	ATXN8	OMIM:608768
HP:0000006	Autosomal dominant inheritance	1822	ATN1	OMIM:125370
HP:0000006	Autosomal dominant inheritance	1822	ATN1	OMIM:618494
HP:0000006	Autosomal dominant inheritance	1829	DSG2	OMIM:610193
HP:0000006	Autosomal dominant inheritance	5244	ABCB4	OMIM:600803
HP:0000006	Autosomal dominant inheritance	5244	ABCB4	OMIM:614972
HP:0000006	Autosomal dominant inheritance	6144	RPL21	OMIM:615885
HP:0000006	Autosomal dominant inheritance	23291	FBXW11	OMIM:618914
HP:0000006	Autosomal dominant inheritance	84876	ORAI1	OMIM:615883
HP:0000006	Autosomal dominant inheritance	4893	NRAS	OMIM:613224
HP:0000006	Autosomal dominant inheritance	4893	NRAS	OMIM:114500
HP:0000006	Autosomal dominant inheritance	4893	NRAS	OMIM:614470
HP:0000006	Autosomal dominant inheritance	4893	NRAS	OMIM:188470
HP:0000006	Autosomal dominant inheritance	4363	ABCC1	OMIM:618915
HP:0000006	Autosomal dominant inheritance	5048	PAFAH1B1	OMIM:607432
HP:0000006	Autosomal dominant inheritance	114798	SLITRK1	OMIM:613229
HP:0000006	Autosomal dominant inheritance	114798	SLITRK1	OMIM:137580
HP:0000006	Autosomal dominant inheritance	23097	CDK19	OMIM:618916
HP:0000006	Autosomal dominant inheritance	2891	GRIA2	OMIM:618917
HP:0000006	Autosomal dominant inheritance	4131	MAP1B	OMIM:618918
HP:0000006	Autosomal dominant inheritance	4131	MAP1B	OMIM:619808
HP:0000006	Autosomal dominant inheritance	348	APOE	OMIM:603075
HP:0000006	Autosomal dominant inheritance	348	APOE	OMIM:606889
HP:0000006	Autosomal dominant inheritance	348	APOE	OMIM:104310
HP:0000006	Autosomal dominant inheritance	348	APOE	OMIM:607822
HP:0000006	Autosomal dominant inheritance	83872	HMCN1	OMIM:603075
HP:0000006	Autosomal dominant inheritance	4633	MYL2	OMIM:608758
HP:0000006	Autosomal dominant inheritance	112802	KRT71	OMIM:615896
HP:0000006	Autosomal dominant inheritance	6326	SCN2A	OMIM:618924
HP:0000006	Autosomal dominant inheritance	6326	SCN2A	OMIM:613721
HP:0000006	Autosomal dominant inheritance	6326	SCN2A	OMIM:607745
HP:0000006	Autosomal dominant inheritance	1778	DYNC1H1	OMIM:614563
HP:0000006	Autosomal dominant inheritance	1778	DYNC1H1	OMIM:614228
HP:0000006	Autosomal dominant inheritance	1778	DYNC1H1	OMIM:158600
HP:0000006	Autosomal dominant inheritance	545	ATR	OMIM:614564
HP:0000006	Autosomal dominant inheritance	64423	INF2	OMIM:613237
HP:0000006	Autosomal dominant inheritance	64423	INF2	OMIM:614455
HP:0000006	Autosomal dominant inheritance	1000	CDH2	OMIM:618920
HP:0000006	Autosomal dominant inheritance	1000	CDH2	OMIM:618929
HP:0000006	Autosomal dominant inheritance	100134444	KCNJ18	OMIM:613239
HP:0000006	Autosomal dominant inheritance	4634	MYL3	OMIM:608751
HP:0000006	Autosomal dominant inheritance	23746	AIPL1	OMIM:604393
HP:0000006	Autosomal dominant inheritance	23746	AIPL1	OMIM:268000
HP:0000006	Autosomal dominant inheritance	25	ABL1	OMIM:617602
HP:0000006	Autosomal dominant inheritance	4072	EPCAM	OMIM:613244
HP:0000006	Autosomal dominant inheritance	56479	KCNQ5	OMIM:617601
HP:0000006	Autosomal dominant inheritance	7134	TNNC1	OMIM:613243
HP:0000006	Autosomal dominant inheritance	7134	TNNC1	OMIM:611879
HP:0000006	Autosomal dominant inheritance	23152	CIC	OMIM:617600
HP:0000006	Autosomal dominant inheritance	80736	SLC44A4	OMIM:617606
HP:0000006	Autosomal dominant inheritance	23312	DMXL2	OMIM:617605
HP:0000006	Autosomal dominant inheritance	401138	AMTN	OMIM:617607
HP:0000006	Autosomal dominant inheritance	84172	POLR1B	OMIM:618939
HP:0000006	Autosomal dominant inheritance	10755	GIPC1	OMIM:618940
HP:0000006	Autosomal dominant inheritance	71	ACTG1	OMIM:614583
HP:0000006	Autosomal dominant inheritance	71	ACTG1	OMIM:604717
HP:0000006	Autosomal dominant inheritance	7414	VCL	OMIM:613255
HP:0000006	Autosomal dominant inheritance	7414	VCL	OMIM:611407
HP:0000006	Autosomal dominant inheritance	3458	IFNG	OMIM:613254
HP:0000006	Autosomal dominant inheritance	7249	TSC2	OMIM:613254
HP:0000006	Autosomal dominant inheritance	5333	PLCD1	OMIM:151600
HP:0000006	Autosomal dominant inheritance	80232	WDR26	OMIM:617616
HP:0000006	Autosomal dominant inheritance	10699	CORIN	OMIM:614595
HP:0000006	Autosomal dominant inheritance	1908	EDN3	OMIM:613265
HP:0000006	Autosomal dominant inheritance	1908	EDN3	OMIM:613712
HP:0000006	Autosomal dominant inheritance	83959	SLC4A11	OMIM:613268
HP:0000006	Autosomal dominant inheritance	2625	GATA3	OMIM:146255
HP:0000006	Autosomal dominant inheritance	6925	TCF4	OMIM:613267
HP:0000006	Autosomal dominant inheritance	6925	TCF4	OMIM:610954
HP:0000006	Autosomal dominant inheritance	5978	REST	OMIM:617626
HP:0000006	Autosomal dominant inheritance	5978	REST	OMIM:612431
HP:0000006	Autosomal dominant inheritance	5978	REST	OMIM:616806
HP:0000006	Autosomal dominant inheritance	9371	KIF3B	OMIM:618955
HP:0000006	Autosomal dominant inheritance	9681	DEPDC5	OMIM:604364
HP:0000006	Autosomal dominant inheritance	10137	RBM12	OMIM:617629
HP:0000006	Autosomal dominant inheritance	1123	CHN1	OMIM:604356
HP:0000006	Autosomal dominant inheritance	51	ACOX1	OMIM:618960
HP:0000006	Autosomal dominant inheritance	10020	GNE	OMIM:269921
HP:0000006	Autosomal dominant inheritance	10274	STAG1	OMIM:617635
HP:0000006	Autosomal dominant inheritance	10625	IVNS1ABP	OMIM:618969
HP:0000006	Autosomal dominant inheritance	84059	ADGRV1	OMIM:604352
HP:0000006	Autosomal dominant inheritance	8864	PER2	OMIM:604348
HP:0000006	Autosomal dominant inheritance	56916	SMARCAD1	OMIM:136000
HP:0000006	Autosomal dominant inheritance	56916	SMARCAD1	OMIM:181600
HP:0000006	Autosomal dominant inheritance	56916	SMARCAD1	OMIM:129200
HP:0000006	Autosomal dominant inheritance	87178	PNPT1	OMIM:608703
HP:0000006	Autosomal dominant inheritance	55553	SOX6	OMIM:618971
HP:0000006	Autosomal dominant inheritance	3832	KIF11	OMIM:152950
HP:0000006	Autosomal dominant inheritance	5087	PBX1	OMIM:617641
HP:0000006	Autosomal dominant inheritance	7137	TNNI3	OMIM:613286
HP:0000006	Autosomal dominant inheritance	7137	TNNI3	OMIM:115210
HP:0000006	Autosomal dominant inheritance	7137	TNNI3	OMIM:613690
HP:0000006	Autosomal dominant inheritance	84823	LMNB2	OMIM:608709
HP:0000006	Autosomal dominant inheritance	84823	LMNB2	OMIM:619180
HP:0000006	Autosomal dominant inheritance	1140	CHRNB1	OMIM:616313
HP:0000006	Autosomal dominant inheritance	84148	KAT8	OMIM:618974
HP:0000006	Autosomal dominant inheritance	6786	STIM1	OMIM:160565
HP:0000006	Autosomal dominant inheritance	6786	STIM1	OMIM:185070
HP:0000006	Autosomal dominant inheritance	114902	C1QTNF5	OMIM:605670
HP:0000006	Autosomal dominant inheritance	5274	SERPINI1	OMIM:604218
HP:0000006	Autosomal dominant inheritance	699	BUB1	OMIM:114500
HP:0000006	Autosomal dominant inheritance	581	BAX	OMIM:114500
HP:0000006	Autosomal dominant inheritance	25788	RAD54B	OMIM:114500
HP:0000006	Autosomal dominant inheritance	5795	PTPRJ	OMIM:114500
HP:0000006	Autosomal dominant inheritance	5157	PDGFRL	OMIM:114500
HP:0000006	Autosomal dominant inheritance	1630	DCC	OMIM:114500
HP:0000006	Autosomal dominant inheritance	1630	DCC	OMIM:157600
HP:0000006	Autosomal dominant inheritance	10395	DLC1	OMIM:114500
HP:0000006	Autosomal dominant inheritance	8313	AXIN2	OMIM:114500
HP:0000006	Autosomal dominant inheritance	8313	AXIN2	OMIM:608615
HP:0000006	Autosomal dominant inheritance	4163	MCC	OMIM:114500
HP:0000006	Autosomal dominant inheritance	595	CCND1	OMIM:114500
HP:0000006	Autosomal dominant inheritance	595	CCND1	OMIM:193300
HP:0000006	Autosomal dominant inheritance	7097	TLR2	OMIM:114500
HP:0000006	Autosomal dominant inheritance	7097	TLR2	OMIM:246300
HP:0000006	Autosomal dominant inheritance	6714	SRC	OMIM:114500
HP:0000006	Autosomal dominant inheritance	6714	SRC	OMIM:616937
HP:0000006	Autosomal dominant inheritance	5320	PLA2G2A	OMIM:114500
HP:0000006	Autosomal dominant inheritance	6790	AURKA	OMIM:114500
HP:0000006	Autosomal dominant inheritance	701	BUB1B	OMIM:114500
HP:0000006	Autosomal dominant inheritance	701	BUB1B	OMIM:176430
HP:0000006	Autosomal dominant inheritance	5782	PTPN12	OMIM:114500
HP:0000006	Autosomal dominant inheritance	1409	CRYAA	OMIM:604219
HP:0000006	Autosomal dominant inheritance	4287	ATXN3	OMIM:109150
HP:0000006	Autosomal dominant inheritance	4287	ATXN3	OMIM:168600
HP:0000006	Autosomal dominant inheritance	282996	RBM20	OMIM:613172
HP:0000006	Autosomal dominant inheritance	5350	PLN	OMIM:609909
HP:0000006	Autosomal dominant inheritance	5350	PLN	OMIM:613874
HP:0000006	Autosomal dominant inheritance	85446	ZFHX2	OMIM:147430
HP:0000006	Autosomal dominant inheritance	7277	TUBA4A	OMIM:616208
HP:0000006	Autosomal dominant inheritance	3008	H1-4	OMIM:617537
HP:0000006	Autosomal dominant inheritance	116931	MED12L	OMIM:618872
HP:0000006	Autosomal dominant inheritance	387119	CEP85L	OMIM:618873
HP:0000006	Autosomal dominant inheritance	64072	CDH23	OMIM:617540
HP:0000006	Autosomal dominant inheritance	2120	ETV6	OMIM:616216
HP:0000006	Autosomal dominant inheritance	2120	ETV6	OMIM:601626
HP:0000006	Autosomal dominant inheritance	10501	SEMA6B	OMIM:618876
HP:0000006	Autosomal dominant inheritance	27102	EIF2AK1	OMIM:618878
HP:0000006	Autosomal dominant inheritance	23022	PALLD	OMIM:606856
HP:0000006	Autosomal dominant inheritance	80781	COL18A1	OMIM:618880
HP:0000006	Autosomal dominant inheritance	7528	YY1	OMIM:617557
HP:0000006	Autosomal dominant inheritance	5832	ALDH18A1	OMIM:601162
HP:0000006	Autosomal dominant inheritance	5832	ALDH18A1	OMIM:616603
HP:0000006	Autosomal dominant inheritance	8726	EED	OMIM:617561
HP:0000006	Autosomal dominant inheritance	153201	SLC36A2	OMIM:138500
HP:0000006	Autosomal dominant inheritance	844	CASQ1	OMIM:616231
HP:0000006	Autosomal dominant inheritance	7428	VHL	OMIM:193300
HP:0000006	Autosomal dominant inheritance	7428	VHL	OMIM:171300
HP:0000006	Autosomal dominant inheritance	2773	GNAI3	OMIM:602483
HP:0000006	Autosomal dominant inheritance	2296	FOXC1	OMIM:602482
HP:0000006	Autosomal dominant inheritance	2296	FOXC1	OMIM:601631
HP:0000006	Autosomal dominant inheritance	610	HCN2	OMIM:602477
HP:0000006	Autosomal dominant inheritance	805	CALM2	OMIM:616249
HP:0000006	Autosomal dominant inheritance	801	CALM1	OMIM:616247
HP:0000006	Autosomal dominant inheritance	801	CALM1	OMIM:614916
HP:0000006	Autosomal dominant inheritance	4978	OPCML	OMIM:167000
HP:0000006	Autosomal dominant inheritance	5071	PRKN	OMIM:167000
HP:0000006	Autosomal dominant inheritance	5071	PRKN	OMIM:211980
HP:0000006	Autosomal dominant inheritance	4040	LRP6	OMIM:610947
HP:0000006	Autosomal dominant inheritance	4040	LRP6	OMIM:616724
HP:0000006	Autosomal dominant inheritance	3859	KRT12	OMIM:122100
HP:0000006	Autosomal dominant inheritance	7276	TTR	OMIM:145680
HP:0000006	Autosomal dominant inheritance	7276	TTR	OMIM:105210
HP:0000006	Autosomal dominant inheritance	7276	TTR	OMIM:115430
HP:0000006	Autosomal dominant inheritance	5459	POU4F3	OMIM:602459
HP:0000006	Autosomal dominant inheritance	54941	RNF125	OMIM:616260
HP:0000006	Autosomal dominant inheritance	259232	NALCN	OMIM:616266
HP:0000006	Autosomal dominant inheritance	7994	KAT6A	OMIM:616268
HP:0000006	Autosomal dominant inheritance	6683	SPAST	OMIM:182601
HP:0000006	Autosomal dominant inheritance	51062	ATL1	OMIM:182600
HP:0000006	Autosomal dominant inheritance	51062	ATL1	OMIM:613708
HP:0000006	Autosomal dominant inheritance	387733	IFITM5	OMIM:610967
HP:0000006	Autosomal dominant inheritance	255738	PCSK9	OMIM:603776
HP:0000006	Autosomal dominant inheritance	146862	UNC45B	OMIM:616279
HP:0000006	Autosomal dominant inheritance	146862	UNC45B	OMIM:619178
HP:0000006	Autosomal dominant inheritance	23064	SETX	OMIM:602433
HP:0000006	Autosomal dominant inheritance	4141	MARS1	OMIM:616280
HP:0000006	Autosomal dominant inheritance	4137	MAPT	OMIM:601104
HP:0000006	Autosomal dominant inheritance	4137	MAPT	OMIM:172700
HP:0000006	Autosomal dominant inheritance	4137	MAPT	OMIM:168600
HP:0000006	Autosomal dominant inheritance	4137	MAPT	OMIM:600274
HP:0000006	Autosomal dominant inheritance	5898	RALA	OMIM:619311
HP:0000006	Autosomal dominant inheritance	23013	SPEN	OMIM:619312
HP:0000006	Autosomal dominant inheritance	126129	CPT1C	OMIM:616282
HP:0000006	Autosomal dominant inheritance	6477	SIAH1	OMIM:619314
HP:0000006	Autosomal dominant inheritance	9620	CELSR1	OMIM:619319
HP:0000006	Autosomal dominant inheritance	6091	ROBO1	OMIM:620303
HP:0000006	Autosomal dominant inheritance	221496	LEMD2	OMIM:619322
HP:0000006	Autosomal dominant inheritance	117581	TWIST2	OMIM:200110
HP:0000006	Autosomal dominant inheritance	117581	TWIST2	OMIM:209885
HP:0000006	Autosomal dominant inheritance	84699	CREB3L3	OMIM:619324
HP:0000006	Autosomal dominant inheritance	29998	BICRA	OMIM:619325
HP:0000006	Autosomal dominant inheritance	23586	RIGI	OMIM:616298
HP:0000006	Autosomal dominant inheritance	23030	KDM4B	OMIM:619320
HP:0000006	Autosomal dominant inheritance	5010	CLDN11	OMIM:619328
HP:0000006	Autosomal dominant inheritance	1289	COL5A1	OMIM:619329
HP:0000006	Autosomal dominant inheritance	1289	COL5A1	OMIM:130000
HP:0000006	Autosomal dominant inheritance	23221	RHOBTB2	OMIM:618004
HP:0000006	Autosomal dominant inheritance	5318	PKP2	OMIM:609040
HP:0000006	Autosomal dominant inheritance	84188	FAR1	OMIM:619338
HP:0000006	Autosomal dominant inheritance	26999	CYFIP2	OMIM:618008
HP:0000006	Autosomal dominant inheritance	9969	MED13	OMIM:618009
HP:0000006	Autosomal dominant inheritance	2253	FGF8	OMIM:612702
HP:0000006	Autosomal dominant inheritance	1019	CDK4	OMIM:609048
HP:0000006	Autosomal dominant inheritance	27032	ATP2C1	OMIM:169600
HP:0000006	Autosomal dominant inheritance	3119	HLA-DQB1	OMIM:123400
HP:0000006	Autosomal dominant inheritance	1828	DSG1	OMIM:148700
HP:0000006	Autosomal dominant inheritance	5428	POLG	OMIM:157640
HP:0000006	Autosomal dominant inheritance	10845	CLPX	OMIM:618015
HP:0000006	Autosomal dominant inheritance	4905	NSF	OMIM:619340
HP:0000006	Autosomal dominant inheritance	523	ATP6V1A	OMIM:618012
HP:0000006	Autosomal dominant inheritance	145226	RDH12	OMIM:612712
HP:0000006	Autosomal dominant inheritance	6697	SPR	OMIM:612716
HP:0000006	Autosomal dominant inheritance	64864	RFX7	OMIM:620330
HP:0000006	Autosomal dominant inheritance	4629	MYH11	OMIM:619350
HP:0000006	Autosomal dominant inheritance	4629	MYH11	OMIM:132900
HP:0000006	Autosomal dominant inheritance	5977	DPF2	OMIM:618027
HP:0000006	Autosomal dominant inheritance	5457	POU4F1	OMIM:619352
HP:0000006	Autosomal dominant inheritance	9094	UNC119	OMIM:620342
HP:0000006	Autosomal dominant inheritance	9094	UNC119	OMIM:615518
HP:0000006	Autosomal dominant inheritance	51684	SUFU	OMIM:620343
HP:0000006	Autosomal dominant inheritance	51684	SUFU	OMIM:607174
HP:0000006	Autosomal dominant inheritance	51684	SUFU	OMIM:155255
HP:0000006	Autosomal dominant inheritance	5340	PLG	OMIM:619360
HP:0000006	Autosomal dominant inheritance	284	ANGPT1	OMIM:619361
HP:0000006	Autosomal dominant inheritance	26509	MYOF	OMIM:619366
HP:0000006	Autosomal dominant inheritance	64711	HS3ST6	OMIM:619367
HP:0000006	Autosomal dominant inheritance	285	ANGPT2	OMIM:619369
HP:0000006	Autosomal dominant inheritance	79977	GRHL2	OMIM:618031
HP:0000006	Autosomal dominant inheritance	79977	GRHL2	OMIM:608641
HP:0000006	Autosomal dominant inheritance	3827	KNG1	OMIM:619363
HP:0000006	Autosomal dominant inheritance	498	ATP5F1A	OMIM:620358
HP:0000006	Autosomal dominant inheritance	51371	POMP	OMIM:618048
HP:0000006	Autosomal dominant inheritance	23154	NCDN	OMIM:619373
HP:0000006	Autosomal dominant inheritance	4938	OAS1	OMIM:618042
HP:0000006	Autosomal dominant inheritance	8651	SOCS1	OMIM:619375
HP:0000006	Autosomal dominant inheritance	1984	EIF5A	OMIM:619376
HP:0000006	Autosomal dominant inheritance	92345	NAF1	OMIM:620365
HP:0000006	Autosomal dominant inheritance	5076	PAX2	OMIM:120330
HP:0000006	Autosomal dominant inheritance	5076	PAX2	OMIM:616002
HP:0000006	Autosomal dominant inheritance	11011	TLK2	OMIM:618050
HP:0000006	Autosomal dominant inheritance	6850	SYK	OMIM:619381
HP:0000006	Autosomal dominant inheritance	23193	GANAB	OMIM:600666
HP:0000006	Autosomal dominant inheritance	1066	CES1	OMIM:618057
HP:0000006	Autosomal dominant inheritance	1312	COMT	OMIM:167870
HP:0000006	Autosomal dominant inheritance	1312	COMT	OMIM:181500
HP:0000006	Autosomal dominant inheritance	27199	OXGR1	OMIM:620374
HP:0000006	Autosomal dominant inheritance	3690	ITGB3	OMIM:619271
HP:0000006	Autosomal dominant inheritance	27183	VPS4A	OMIM:619273
HP:0000006	Autosomal dominant inheritance	2077	ERF	OMIM:600775
HP:0000006	Autosomal dominant inheritance	2077	ERF	OMIM:617180
HP:0000006	Autosomal dominant inheritance	2131	EXT1	OMIM:133700
HP:0000006	Autosomal dominant inheritance	7384	UQCRC1	OMIM:619279
HP:0000006	Autosomal dominant inheritance	2132	EXT2	OMIM:133701
HP:0000006	Autosomal dominant inheritance	9782	MATR3	OMIM:606070
HP:0000006	Autosomal dominant inheritance	2904	GRIN2B	OMIM:613970
HP:0000006	Autosomal dominant inheritance	2904	GRIN2B	OMIM:616139
HP:0000006	Autosomal dominant inheritance	2707	GJB3	OMIM:612644
HP:0000006	Autosomal dominant inheritance	2707	GJB3	OMIM:133200
HP:0000006	Autosomal dominant inheritance	3209	HOXA13	OMIM:140000
HP:0000006	Autosomal dominant inheritance	3209	HOXA13	OMIM:176305
HP:0000006	Autosomal dominant inheritance	3048	HBG2	OMIM:613977
HP:0000006	Autosomal dominant inheritance	3048	HBG2	OMIM:141749
HP:0000006	Autosomal dominant inheritance	80207	OPA3	OMIM:165300
HP:0000006	Autosomal dominant inheritance	2255	FGF10	OMIM:180920
HP:0000006	Autosomal dominant inheritance	2255	FGF10	OMIM:620193
HP:0000006	Autosomal dominant inheritance	24148	PRPF6	OMIM:613983
HP:0000006	Autosomal dominant inheritance	3759	KCNJ2	OMIM:613980
HP:0000006	Autosomal dominant inheritance	3759	KCNJ2	OMIM:609622
HP:0000006	Autosomal dominant inheritance	3759	KCNJ2	OMIM:170390
HP:0000006	Autosomal dominant inheritance	121391	KRT74	OMIM:613981
HP:0000006	Autosomal dominant inheritance	121391	KRT74	OMIM:194300
HP:0000006	Autosomal dominant inheritance	6507	SLC1A3	OMIM:612656
HP:0000006	Autosomal dominant inheritance	30061	SLC40A1	OMIM:606069
HP:0000006	Autosomal dominant inheritance	5298	PI4KB	OMIM:620281
HP:0000006	Autosomal dominant inheritance	9984	THOC1	OMIM:620280
HP:0000006	Autosomal dominant inheritance	64601	VPS16	OMIM:619291
HP:0000006	Autosomal dominant inheritance	26277	TINF2	OMIM:613990
HP:0000006	Autosomal dominant inheritance	26277	TINF2	OMIM:127550
HP:0000006	Autosomal dominant inheritance	26277	TINF2	OMIM:268130
HP:0000006	Autosomal dominant inheritance	3899	AFF3	OMIM:619297
HP:0000006	Autosomal dominant inheritance	7132	TNFRSF1A	OMIM:142680
HP:0000006	Autosomal dominant inheritance	2317	FLNB	OMIM:108721
HP:0000006	Autosomal dominant inheritance	2317	FLNB	OMIM:108720
HP:0000006	Autosomal dominant inheritance	2317	FLNB	OMIM:150250
HP:0000006	Autosomal dominant inheritance	2317	FLNB	OMIM:112310
HP:0000006	Autosomal dominant inheritance	10716	TBR1	OMIM:606053
HP:0000006	Autosomal dominant inheritance	10558	SPTLC1	OMIM:620285
HP:0000006	Autosomal dominant inheritance	10558	SPTLC1	OMIM:162400
HP:0000006	Autosomal dominant inheritance	4151	MB	OMIM:620286
HP:0000006	Autosomal dominant inheritance	284656	EPHA10	OMIM:620283
HP:0000006	Autosomal dominant inheritance	474	ATOH1	OMIM:620284
HP:0000006	Autosomal dominant inheritance	26523	AGO1	OMIM:620292
HP:0000006	Autosomal dominant inheritance	55325	UFSP2	OMIM:142669
HP:0000006	Autosomal dominant inheritance	55325	UFSP2	OMIM:617974
HP:0000006	Autosomal dominant inheritance	1175	AP2S1	OMIM:600740
HP:0000006	Autosomal dominant inheritance	6262	RYR2	OMIM:115000
HP:0000006	Autosomal dominant inheritance	6262	RYR2	OMIM:604772
HP:0000006	Autosomal dominant inheritance	659	BMPR2	OMIM:178600
HP:0000006	Autosomal dominant inheritance	659	BMPR2	OMIM:265450
HP:0000006	Autosomal dominant inheritance	374393	FAM111B	OMIM:615704
HP:0000006	Autosomal dominant inheritance	3055	HCK	OMIM:620296
HP:0000006	Autosomal dominant inheritance	6566	SLC16A1	OMIM:610021
HP:0000006	Autosomal dominant inheritance	6566	SLC16A1	OMIM:245340
HP:0000006	Autosomal dominant inheritance	6566	SLC16A1	OMIM:616095
HP:0000006	Autosomal dominant inheritance	5149	PDE6H	OMIM:610024
HP:0000006	Autosomal dominant inheritance	2702	GJA5	OMIM:108770
HP:0000006	Autosomal dominant inheritance	2702	GJA5	OMIM:612474
HP:0000006	Autosomal dominant inheritance	2702	GJA5	OMIM:614049
HP:0000006	Autosomal dominant inheritance	64327	LMBR1	OMIM:186200
HP:0000006	Autosomal dominant inheritance	64327	LMBR1	OMIM:135750
HP:0000006	Autosomal dominant inheritance	64327	LMBR1	OMIM:190605
HP:0000006	Autosomal dominant inheritance	347733	TUBB2B	OMIM:610031
HP:0000006	Autosomal dominant inheritance	57057	TBX20	OMIM:611363
HP:0000006	Autosomal dominant inheritance	7025	NR2F1	OMIM:615722
HP:0000006	Autosomal dominant inheritance	3854	KRT6B	OMIM:615728
HP:0000006	Autosomal dominant inheritance	3853	KRT6A	OMIM:615726
HP:0000006	Autosomal dominant inheritance	1186	CLCN7	OMIM:166600
HP:0000006	Autosomal dominant inheritance	1186	CLCN7	OMIM:618541
HP:0000006	Autosomal dominant inheritance	6899	TBX1	OMIM:187500
HP:0000006	Autosomal dominant inheritance	6899	TBX1	OMIM:192430
HP:0000006	Autosomal dominant inheritance	6899	TBX1	OMIM:188400
HP:0000006	Autosomal dominant inheritance	2626	GATA4	OMIM:187500
HP:0000006	Autosomal dominant inheritance	2626	GATA4	OMIM:614429
HP:0000006	Autosomal dominant inheritance	2626	GATA4	OMIM:614430
HP:0000006	Autosomal dominant inheritance	2626	GATA4	OMIM:607941
HP:0000006	Autosomal dominant inheritance	2626	GATA4	OMIM:615542
HP:0000006	Autosomal dominant inheritance	23414	ZFPM2	OMIM:187500
HP:0000006	Autosomal dominant inheritance	23414	ZFPM2	OMIM:616067
HP:0000006	Autosomal dominant inheritance	5295	PIK3R1	OMIM:269880
HP:0000006	Autosomal dominant inheritance	5295	PIK3R1	OMIM:616005
HP:0000006	Autosomal dominant inheritance	10984	KCNQ1OT1	OMIM:130650
HP:0000006	Autosomal dominant inheritance	286887	KRT6C	OMIM:615735
HP:0000006	Autosomal dominant inheritance	1634	DCN	OMIM:610048
HP:0000006	Autosomal dominant inheritance	63901	FAM111A	OMIM:127000
HP:0000006	Autosomal dominant inheritance	63901	FAM111A	OMIM:602361
HP:0000006	Autosomal dominant inheritance	710	SERPING1	OMIM:106100
HP:0000006	Autosomal dominant inheritance	710	SERPING1	OMIM:120790
HP:0000006	Autosomal dominant inheritance	26353	HSPB8	OMIM:608673
HP:0000006	Autosomal dominant inheritance	26353	HSPB8	OMIM:158590
HP:0000006	Autosomal dominant inheritance	25939	SAMHD1	OMIM:614415
HP:0000006	Autosomal dominant inheritance	2737	GLI3	OMIM:174200
HP:0000006	Autosomal dominant inheritance	2737	GLI3	OMIM:175700
HP:0000006	Autosomal dominant inheritance	2737	GLI3	OMIM:174700
HP:0000006	Autosomal dominant inheritance	2737	GLI3	OMIM:146510
HP:0000006	Autosomal dominant inheritance	2554	GABRA1	OMIM:615744
HP:0000006	Autosomal dominant inheritance	5624	PROC	OMIM:176860
HP:0000006	Autosomal dominant inheritance	57094	CPA6	OMIM:614417
HP:0000006	Autosomal dominant inheritance	23431	AP4E1	OMIM:184450
HP:0000006	Autosomal dominant inheritance	631	BFSP1	OMIM:611391
HP:0000006	Autosomal dominant inheritance	4353	MPO	OMIM:104300
HP:0000006	Autosomal dominant inheritance	4846	NOS3	OMIM:104300
HP:0000006	Autosomal dominant inheritance	4846	NOS3	OMIM:189800
HP:0000006	Autosomal dominant inheritance	5328	PLAU	OMIM:104300
HP:0000006	Autosomal dominant inheritance	5328	PLAU	OMIM:601709
HP:0000006	Autosomal dominant inheritance	57167	SALL4	OMIM:607323
HP:0000006	Autosomal dominant inheritance	57167	SALL4	OMIM:147750
HP:0000006	Autosomal dominant inheritance	6708	SPTA1	OMIM:130600
HP:0000006	Autosomal dominant inheritance	55209	SETD5	OMIM:615761
HP:0000006	Autosomal dominant inheritance	10370	CITED2	OMIM:614433
HP:0000006	Autosomal dominant inheritance	10370	CITED2	OMIM:614431
HP:0000006	Autosomal dominant inheritance	7280	TUBB2A	OMIM:615763
HP:0000006	Autosomal dominant inheritance	5156	PDGFRA	OMIM:175510
HP:0000006	Autosomal dominant inheritance	2672	GFI1	OMIM:613107
HP:0000006	Autosomal dominant inheritance	2672	GFI1	OMIM:607847
HP:0000006	Autosomal dominant inheritance	90678	LRSAM1	OMIM:614436
HP:0000006	Autosomal dominant inheritance	4976	OPA1	OMIM:125250
HP:0000006	Autosomal dominant inheritance	4976	OPA1	OMIM:165500
HP:0000006	Autosomal dominant inheritance	3643	INSR	OMIM:609968
HP:0000006	Autosomal dominant inheritance	3315	HSPB1	OMIM:608634
HP:0000006	Autosomal dominant inheritance	3315	HSPB1	OMIM:606595
HP:0000006	Autosomal dominant inheritance	463	ZFHX3	OMIM:176807
HP:0000006	Autosomal dominant inheritance	463	ZFHX3	OMIM:613055
HP:0000006	Autosomal dominant inheritance	463	ZFHX3	OMIM:600223
HP:0000006	Autosomal dominant inheritance	4601	MXI1	OMIM:176807
HP:0000006	Autosomal dominant inheritance	8379	MAD1L1	OMIM:176807
HP:0000006	Autosomal dominant inheritance	5728	PTEN	OMIM:176807
HP:0000006	Autosomal dominant inheritance	5728	PTEN	OMIM:607174
HP:0000006	Autosomal dominant inheritance	5728	PTEN	OMIM:613028
HP:0000006	Autosomal dominant inheritance	5728	PTEN	OMIM:605309
HP:0000006	Autosomal dominant inheritance	5728	PTEN	OMIM:158350
HP:0000006	Autosomal dominant inheritance	1316	KLF6	OMIM:176807
HP:0000006	Autosomal dominant inheritance	203068	TUBB	OMIM:615771
HP:0000006	Autosomal dominant inheritance	203068	TUBB	OMIM:156610
HP:0000006	Autosomal dominant inheritance	81027	TUBB1	OMIM:613112
HP:0000006	Autosomal dominant inheritance	3273	HRG	OMIM:613116
HP:0000006	Autosomal dominant inheritance	462	SERPINC1	OMIM:613118
HP:0000006	Autosomal dominant inheritance	10008	KCNE3	OMIM:613119
HP:0000006	Autosomal dominant inheritance	8456	FOXN1	OMIM:618806
HP:0000006	Autosomal dominant inheritance	5158	PDE6B	OMIM:163500
HP:0000006	Autosomal dominant inheritance	9217	VAPB	OMIM:608627
HP:0000006	Autosomal dominant inheritance	9217	VAPB	OMIM:182980
HP:0000006	Autosomal dominant inheritance	5339	PLEC	OMIM:131950
HP:0000006	Autosomal dominant inheritance	7067	THRA	OMIM:614450
HP:0000006	Autosomal dominant inheritance	55800	SCN3B	OMIM:613120
HP:0000006	Autosomal dominant inheritance	4286	MITF	OMIM:614456
HP:0000006	Autosomal dominant inheritance	4286	MITF	OMIM:193510
HP:0000006	Autosomal dominant inheritance	4286	MITF	OMIM:103500
HP:0000006	Autosomal dominant inheritance	91624	NEXN	OMIM:613122
HP:0000006	Autosomal dominant inheritance	91624	NEXN	OMIM:613876
HP:0000006	Autosomal dominant inheritance	3178	HNRNPA1	OMIM:610099
HP:0000006	Autosomal dominant inheritance	3178	HNRNPA1	OMIM:615424
HP:0000006	Autosomal dominant inheritance	3178	HNRNPA1	OMIM:615426
HP:0000006	Autosomal dominant inheritance	3860	KRT13	OMIM:615785
HP:0000006	Autosomal dominant inheritance	1834	DSPP	OMIM:605594
HP:0000006	Autosomal dominant inheritance	1834	DSPP	OMIM:125500
HP:0000006	Autosomal dominant inheritance	1834	DSPP	OMIM:125420
HP:0000006	Autosomal dominant inheritance	1834	DSPP	OMIM:125490
HP:0000006	Autosomal dominant inheritance	9493	KIF23	OMIM:105600
HP:0000006	Autosomal dominant inheritance	6628	SNRPB	OMIM:117650
HP:0000006	Autosomal dominant inheritance	29894	CPSF1	OMIM:618827
HP:0000006	Autosomal dominant inheritance	4659	PPP1R12A	OMIM:618820
HP:0000006	Autosomal dominant inheritance	5336	PLCG2	OMIM:614468
HP:0000006	Autosomal dominant inheritance	5336	PLCG2	OMIM:614878
HP:0000006	Autosomal dominant inheritance	246213	SLC17A8	OMIM:605583
HP:0000006	Autosomal dominant inheritance	8405	SPOP	OMIM:618828
HP:0000006	Autosomal dominant inheritance	8405	SPOP	OMIM:618829
HP:0000006	Autosomal dominant inheritance	22871	NLGN1	OMIM:618830
HP:0000006	Autosomal dominant inheritance	5500	PPP1CB	OMIM:617506
HP:0000006	Autosomal dominant inheritance	9739	SETD1A	OMIM:618832
HP:0000006	Autosomal dominant inheritance	9739	SETD1A	OMIM:619056
HP:0000006	Autosomal dominant inheritance	10210	TOPORS	OMIM:609923
HP:0000006	Autosomal dominant inheritance	79625	NDNF	OMIM:618841
HP:0000006	Autosomal dominant inheritance	158326	FREM1	OMIM:614485
HP:0000006	Autosomal dominant inheritance	1284	COL4A2	OMIM:614483
HP:0000006	Autosomal dominant inheritance	7431	VIM	OMIM:116300
HP:0000006	Autosomal dominant inheritance	51780	KDM3B	OMIM:618846
HP:0000006	Autosomal dominant inheritance	4194	MDM4	OMIM:618849
HP:0000006	Autosomal dominant inheritance	5718	PSMD12	OMIM:617516
HP:0000006	Autosomal dominant inheritance	166929	SGMS2	OMIM:126550
HP:0000006	Autosomal dominant inheritance	6223	RPS19	OMIM:105650
HP:0000006	Autosomal dominant inheritance	5664	PSEN2	OMIM:606889
HP:0000006	Autosomal dominant inheritance	5664	PSEN2	OMIM:613697
HP:0000006	Autosomal dominant inheritance	65266	WNK4	OMIM:614491
HP:0000006	Autosomal dominant inheritance	65125	WNK1	OMIM:614492
HP:0000006	Autosomal dominant inheritance	5205	ATP8B1	OMIM:147480
HP:0000006	Autosomal dominant inheritance	8737	RIPK1	OMIM:618852
HP:0000006	Autosomal dominant inheritance	26249	KLHL3	OMIM:614495
HP:0000006	Autosomal dominant inheritance	23001	WDFY3	OMIM:617520
HP:0000006	Autosomal dominant inheritance	8452	CUL3	OMIM:614496
HP:0000006	Autosomal dominant inheritance	8452	CUL3	OMIM:619239
HP:0000006	Autosomal dominant inheritance	127534	GJB4	OMIM:617524
HP:0000006	Autosomal dominant inheritance	4858	NOVA2	OMIM:618859
HP:0000006	Autosomal dominant inheritance	401474	SAMD12	OMIM:601068
HP:0000006	Autosomal dominant inheritance	1024	CDK8	OMIM:618748
HP:0000006	Autosomal dominant inheritance	10059	DNM1L	OMIM:614388
HP:0000006	Autosomal dominant inheritance	10059	DNM1L	OMIM:610708
HP:0000006	Autosomal dominant inheritance	6228	RPS23	OMIM:617412
HP:0000006	Autosomal dominant inheritance	2563	GABRD	OMIM:613060
HP:0000006	Autosomal dominant inheritance	6729	SRP54	OMIM:618752
HP:0000006	Autosomal dominant inheritance	308	ANXA5	OMIM:614391
HP:0000006	Autosomal dominant inheritance	115650	TNFRSF13C	OMIM:240500
HP:0000006	Autosomal dominant inheritance	29851	ICOS	OMIM:240500
HP:0000006	Autosomal dominant inheritance	930	CD19	OMIM:240500
HP:0000006	Autosomal dominant inheritance	23495	TNFRSF13B	OMIM:240500
HP:0000006	Autosomal dominant inheritance	1380	CR2	OMIM:240500
HP:0000006	Autosomal dominant inheritance	407053	MIR96	OMIM:613074
HP:0000006	Autosomal dominant inheritance	50484	RRM2B	OMIM:613077
HP:0000006	Autosomal dominant inheritance	6844	VAMP2	OMIM:618760
HP:0000006	Autosomal dominant inheritance	130340	AP1S3	OMIM:616106
HP:0000006	Autosomal dominant inheritance	7852	CXCR4	OMIM:193670
HP:0000006	Autosomal dominant inheritance	4091	SMAD6	OMIM:617439
HP:0000006	Autosomal dominant inheritance	4091	SMAD6	OMIM:179300
HP:0000006	Autosomal dominant inheritance	4091	SMAD6	OMIM:614823
HP:0000006	Autosomal dominant inheritance	3850	KRT3	OMIM:618767
HP:0000006	Autosomal dominant inheritance	25778	DSTYK	OMIM:610805
HP:0000006	Autosomal dominant inheritance	857	CAV1	OMIM:606721
HP:0000006	Autosomal dominant inheritance	857	CAV1	OMIM:615343
HP:0000006	Autosomal dominant inheritance	4330	MN1	OMIM:618774
HP:0000006	Autosomal dominant inheritance	4330	MN1	OMIM:607174
HP:0000006	Autosomal dominant inheritance	2313	FLI1	OMIM:617443
HP:0000006	Autosomal dominant inheritance	7092	TLL1	OMIM:613087
HP:0000006	Autosomal dominant inheritance	51086	TNNI3K	OMIM:616117
HP:0000006	Autosomal dominant inheritance	58484	NLRC4	OMIM:616115
HP:0000006	Autosomal dominant inheritance	58484	NLRC4	OMIM:616050
HP:0000006	Autosomal dominant inheritance	8295	TRRAP	OMIM:618778
HP:0000006	Autosomal dominant inheritance	8295	TRRAP	OMIM:618454
HP:0000006	Autosomal dominant inheritance	2201	FBN2	OMIM:616118
HP:0000006	Autosomal dominant inheritance	2201	FBN2	OMIM:121050
HP:0000006	Autosomal dominant inheritance	6602	SMARCD1	OMIM:618779
HP:0000006	Autosomal dominant inheritance	57822	GRHL3	OMIM:606713
HP:0000006	Autosomal dominant inheritance	10019	SH2B3	OMIM:133100
HP:0000006	Autosomal dominant inheritance	10019	SH2B3	OMIM:187950
HP:0000006	Autosomal dominant inheritance	2057	EPOR	OMIM:133100
HP:0000006	Autosomal dominant inheritance	7273	TTN	OMIM:603689
HP:0000006	Autosomal dominant inheritance	7273	TTN	OMIM:604145
HP:0000006	Autosomal dominant inheritance	7273	TTN	OMIM:613765
HP:0000006	Autosomal dominant inheritance	7273	TTN	OMIM:600334
HP:0000006	Autosomal dominant inheritance	5972	REN	OMIM:613092
HP:0000006	Autosomal dominant inheritance	5311	PKD2	OMIM:613095
HP:0000006	Autosomal dominant inheritance	5034	P4HB	OMIM:112240
HP:0000006	Autosomal dominant inheritance	23512	SUZ12	OMIM:618786
HP:0000006	Autosomal dominant inheritance	1969	EPHA2	OMIM:116600
HP:0000006	Autosomal dominant inheritance	5663	PSEN1	OMIM:172700
HP:0000006	Autosomal dominant inheritance	5663	PSEN1	OMIM:613737
HP:0000006	Autosomal dominant inheritance	5663	PSEN1	OMIM:607822
HP:0000006	Autosomal dominant inheritance	5663	PSEN1	OMIM:613694
HP:0000006	Autosomal dominant inheritance	5663	PSEN1	OMIM:600274
HP:0000006	Autosomal dominant inheritance	808	CALM3	OMIM:618782
HP:0000006	Autosomal dominant inheritance	5357	PLS1	OMIM:618787
HP:0000006	Autosomal dominant inheritance	5727	PTCH1	OMIM:610828
HP:0000006	Autosomal dominant inheritance	5727	PTCH1	OMIM:109400
HP:0000006	Autosomal dominant inheritance	111	ADCY5	OMIM:606703
HP:0000006	Autosomal dominant inheritance	117531	TMC1	OMIM:606705
HP:0000006	Autosomal dominant inheritance	79718	TBL1XR1	OMIM:602342
HP:0000006	Autosomal dominant inheritance	79718	TBL1XR1	OMIM:616944
HP:0000006	Autosomal dominant inheritance	715	C1R	OMIM:130080
HP:0000006	Autosomal dominant inheritance	3098	HK1	OMIM:617460
HP:0000006	Autosomal dominant inheritance	3098	HK1	OMIM:618547
HP:0000006	Autosomal dominant inheritance	51339	DACT1	OMIM:617466
HP:0000006	Autosomal dominant inheritance	1742	DLG4	OMIM:618793
HP:0000006	Autosomal dominant inheritance	200424	TET3	OMIM:618798
HP:0000006	Autosomal dominant inheritance	775	CACNA1C	OMIM:601005
HP:0000006	Autosomal dominant inheritance	775	CACNA1C	OMIM:620029
HP:0000006	Autosomal dominant inheritance	775	CACNA1C	OMIM:618447
HP:0000006	Autosomal dominant inheritance	775	CACNA1C	OMIM:611875
HP:0000006	Autosomal dominant inheritance	25836	NIPBL	OMIM:122470
HP:0000006	Autosomal dominant inheritance	22873	DZIP1	OMIM:610840
HP:0000006	Autosomal dominant inheritance	2516	NR5A1	OMIM:617480
HP:0000006	Autosomal dominant inheritance	2516	NR5A1	OMIM:613957
HP:0000006	Autosomal dominant inheritance	50939	IMPG2	OMIM:616152
HP:0000006	Autosomal dominant inheritance	3617	IMPG1	OMIM:616151
HP:0000006	Autosomal dominant inheritance	3617	IMPG1	OMIM:153870
HP:0000006	Autosomal dominant inheritance	5813	PURA	OMIM:616158
HP:0000006	Autosomal dominant inheritance	4175	MCM6	OMIM:223100
HP:0000006	Autosomal dominant inheritance	2775	GNAO1	OMIM:617493
HP:0000006	Autosomal dominant inheritance	2775	GNAO1	OMIM:615473
HP:0000006	Autosomal dominant inheritance	8076	MFAP5	OMIM:616166
HP:0000006	Autosomal dominant inheritance	89884	LHX4	OMIM:262700
HP:0000006	Autosomal dominant inheritance	7415	VCP	OMIM:167320
HP:0000006	Autosomal dominant inheritance	7415	VCP	OMIM:613954
HP:0000006	Autosomal dominant inheritance	7415	VCP	OMIM:616687
HP:0000006	Autosomal dominant inheritance	6347	CCL2	OMIM:182940
HP:0000006	Autosomal dominant inheritance	80199	FUZ	OMIM:182940
HP:0000006	Autosomal dominant inheritance	6862	TBXT	OMIM:182940
HP:0000006	Autosomal dominant inheritance	57216	VANGL2	OMIM:182940
HP:0000006	Autosomal dominant inheritance	100033413	SNORD116-1	OMIM:176270
HP:0000006	Autosomal dominant inheritance	8924	HERC2	OMIM:176270
HP:0000006	Autosomal dominant inheritance	23742	NPAP1	OMIM:176270
HP:0000006	Autosomal dominant inheritance	338433	SNORD115-1	OMIM:176270
HP:0000006	Autosomal dominant inheritance	54551	MAGEL2	OMIM:176270
HP:0000006	Autosomal dominant inheritance	54551	MAGEL2	OMIM:615547
HP:0000006	Autosomal dominant inheritance	7681	MKRN3	OMIM:176270
HP:0000006	Autosomal dominant inheritance	145624	PWAR1	OMIM:176270
HP:0000006	Autosomal dominant inheritance	3653	IPW	OMIM:176270
HP:0000006	Autosomal dominant inheritance	791114	PWRN1	OMIM:176270
HP:0000006	Autosomal dominant inheritance	7401	CLRN1	OMIM:268000
HP:0000006	Autosomal dominant inheritance	157657	CFAP418	OMIM:268000
HP:0000006	Autosomal dominant inheritance	9227	LRAT	OMIM:268000
HP:0000006	Autosomal dominant inheritance	5949	RBP3	OMIM:268000
HP:0000006	Autosomal dominant inheritance	1259	CNGA1	OMIM:268000
HP:0000006	Autosomal dominant inheritance	5148	PDE6G	OMIM:268000
HP:0000006	Autosomal dominant inheritance	1406	CRX	OMIM:268000
HP:0000006	Autosomal dominant inheritance	1406	CRX	OMIM:120970
HP:0000006	Autosomal dominant inheritance	84100	ARL6	OMIM:268000
HP:0000006	Autosomal dominant inheritance	112755	STX1B	OMIM:616172
HP:0000006	Autosomal dominant inheritance	64065	PERP	OMIM:619208
HP:0000006	Autosomal dominant inheritance	6092	ROBO2	OMIM:610878
HP:0000006	Autosomal dominant inheritance	1281	COL3A1	OMIM:130050
HP:0000006	Autosomal dominant inheritance	343641	TGM6	OMIM:613908
HP:0000006	Autosomal dominant inheritance	486	FXYD2	OMIM:154020
HP:0000006	Autosomal dominant inheritance	3746	KCNC1	OMIM:616187
HP:0000006	Autosomal dominant inheritance	3000	GUCY2D	OMIM:215500
HP:0000006	Autosomal dominant inheritance	3000	GUCY2D	OMIM:601777
HP:0000006	Autosomal dominant inheritance	219972	MPEG1	OMIM:619223
HP:0000006	Autosomal dominant inheritance	4613	MYCN	OMIM:164280
HP:0000006	Autosomal dominant inheritance	4613	MYCN	OMIM:620748
HP:0000006	Autosomal dominant inheritance	51729	WBP11	OMIM:619227
HP:0000006	Autosomal dominant inheritance	6304	SATB1	OMIM:619228
HP:0000006	Autosomal dominant inheritance	6304	SATB1	OMIM:619229
HP:0000006	Autosomal dominant inheritance	9049	AIP	OMIM:219090
HP:0000006	Autosomal dominant inheritance	9049	AIP	OMIM:102200
HP:0000006	Autosomal dominant inheritance	9101	USP8	OMIM:219090
HP:0000006	Autosomal dominant inheritance	147912	SIX5	OMIM:610896
HP:0000006	Autosomal dominant inheritance	220296	HEPACAM	OMIM:613926
HP:0000006	Autosomal dominant inheritance	84196	USP48	OMIM:620227
HP:0000006	Autosomal dominant inheritance	6295	SAG	OMIM:620228
HP:0000006	Autosomal dominant inheritance	80036	TRPM3	OMIM:620224
HP:0000006	Autosomal dominant inheritance	80036	TRPM3	OMIM:620253
HP:0000006	Autosomal dominant inheritance	7345	UCHL1	OMIM:620221
HP:0000006	Autosomal dominant inheritance	7345	UCHL1	OMIM:613643
HP:0000006	Autosomal dominant inheritance	286	ANK1	OMIM:182900
HP:0000006	Autosomal dominant inheritance	23112	TNRC6B	OMIM:619243
HP:0000006	Autosomal dominant inheritance	6508	SLC4A3	OMIM:620231
HP:0000006	Autosomal dominant inheritance	2700	GJA3	OMIM:601885
HP:0000006	Autosomal dominant inheritance	6389	SDHA	OMIM:619259
HP:0000006	Autosomal dominant inheritance	6389	SDHA	OMIM:614165
HP:0000006	Autosomal dominant inheritance	1290	COL5A2	OMIM:130010
HP:0000006	Autosomal dominant inheritance	55605	KIF21A	OMIM:135700
HP:0000006	Autosomal dominant inheritance	8831	SYNGAP1	OMIM:612621
HP:0000006	Autosomal dominant inheritance	7716	VEZF1	OMIM:620247
HP:0000006	Autosomal dominant inheritance	6532	SLC6A4	OMIM:164230
HP:0000006	Autosomal dominant inheritance	3356	HTR2A	OMIM:164230
HP:0000006	Autosomal dominant inheritance	3356	HTR2A	OMIM:181500
HP:0000006	Autosomal dominant inheritance	112744	IL17F	OMIM:613956
HP:0000006	Autosomal dominant inheritance	256472	TMEM151A	OMIM:620245
HP:0000006	Autosomal dominant inheritance	133396	IL31RA	OMIM:613955
HP:0000006	Autosomal dominant inheritance	81615	TMEM163	OMIM:620243
HP:0000006	Autosomal dominant inheritance	6599	SMARCC1	OMIM:620241
HP:0000006	Autosomal dominant inheritance	2767	GNA11	OMIM:145981
HP:0000006	Autosomal dominant inheritance	2767	GNA11	OMIM:615361
HP:0000006	Autosomal dominant inheritance	126	ADH1C	OMIM:168600
HP:0000006	Autosomal dominant inheritance	4576	MT-TT	OMIM:168600
HP:0000006	Autosomal dominant inheritance	9627	SNCAIP	OMIM:168600
HP:0000006	Autosomal dominant inheritance	6908	TBP	OMIM:168600
HP:0000006	Autosomal dominant inheritance	6908	TBP	OMIM:607136
HP:0000006	Autosomal dominant inheritance	4929	NR4A2	OMIM:168600
HP:0000006	Autosomal dominant inheritance	4929	NR4A2	OMIM:619911
HP:0000006	Autosomal dominant inheritance	1308	COL17A1	OMIM:122400
HP:0000006	Autosomal dominant inheritance	6605	SMARCE1	OMIM:607174
HP:0000006	Autosomal dominant inheritance	6605	SMARCE1	OMIM:616938
HP:0000006	Autosomal dominant inheritance	5155	PDGFB	OMIM:607174
HP:0000006	Autosomal dominant inheritance	5155	PDGFB	OMIM:213600
HP:0000006	Autosomal dominant inheritance	5155	PDGFB	OMIM:615483
HP:0000006	Autosomal dominant inheritance	2811	GP1BA	OMIM:153670
HP:0000006	Autosomal dominant inheritance	2811	GP1BA	OMIM:177820
HP:0000006	Autosomal dominant inheritance	79784	MYH14	OMIM:600652
HP:0000006	Autosomal dominant inheritance	79784	MYH14	OMIM:614369
HP:0000006	Autosomal dominant inheritance	26960	NBEA	OMIM:619157
HP:0000006	Autosomal dominant inheritance	2657	GDF1	OMIM:613854
HP:0000006	Autosomal dominant inheritance	2776	GNAQ	OMIM:163000
HP:0000006	Autosomal dominant inheritance	6165	RPL35A	OMIM:612528
HP:0000006	Autosomal dominant inheritance	6218	RPS17	OMIM:612527
HP:0000006	Autosomal dominant inheritance	51343	FZR1	OMIM:620145
HP:0000006	Autosomal dominant inheritance	10093	ARPC4	OMIM:620141
HP:0000006	Autosomal dominant inheritance	4016	LOXL1	OMIM:177650
HP:0000006	Autosomal dominant inheritance	4352	MPL	OMIM:601977
HP:0000006	Autosomal dominant inheritance	29072	SETD2	OMIM:620157
HP:0000006	Autosomal dominant inheritance	29072	SETD2	OMIM:620155
HP:0000006	Autosomal dominant inheritance	29072	SETD2	OMIM:616831
HP:0000006	Autosomal dominant inheritance	4884	NPTX1	OMIM:620158
HP:0000006	Autosomal dominant inheritance	9197	SLC33A1	OMIM:612539
HP:0000006	Autosomal dominant inheritance	3242	HPD	OMIM:140350
HP:0000006	Autosomal dominant inheritance	58528	RRAGD	OMIM:620152
HP:0000006	Autosomal dominant inheritance	7125	TNNC2	OMIM:620161
HP:0000006	Autosomal dominant inheritance	1185	CLCN6	OMIM:619173
HP:0000006	Autosomal dominant inheritance	6452	SH3BP2	OMIM:118400
HP:0000006	Autosomal dominant inheritance	10381	TUBB3	OMIM:600638
HP:0000006	Autosomal dominant inheritance	10381	TUBB3	OMIM:614039
HP:0000006	Autosomal dominant inheritance	1889	ECE1	OMIM:613870
HP:0000006	Autosomal dominant inheritance	57158	JPH2	OMIM:613873
HP:0000006	Autosomal dominant inheritance	5346	PLIN1	OMIM:613877
HP:0000006	Autosomal dominant inheritance	6687	SPG7	OMIM:607259
HP:0000006	Autosomal dominant inheritance	64127	NOD2	OMIM:186580
HP:0000006	Autosomal dominant inheritance	23036	ZNF292	OMIM:619188
HP:0000006	Autosomal dominant inheritance	342618	SLFN14	OMIM:616913
HP:0000006	Autosomal dominant inheritance	9096	TBX18	OMIM:143400
HP:0000006	Autosomal dominant inheritance	10815	CPLX1	OMIM:194190
HP:0000006	Autosomal dominant inheritance	1487	CTBP1	OMIM:194190
HP:0000006	Autosomal dominant inheritance	1487	CTBP1	OMIM:617915
HP:0000006	Autosomal dominant inheritance	53834	FGFRL1	OMIM:194190
HP:0000006	Autosomal dominant inheritance	3954	LETM1	OMIM:194190
HP:0000006	Autosomal dominant inheritance	2259	FGF14	OMIM:620174
HP:0000006	Autosomal dominant inheritance	2259	FGF14	OMIM:193003
HP:0000006	Autosomal dominant inheritance	1471	CST3	OMIM:105150
HP:0000006	Autosomal dominant inheritance	6135	RPL11	OMIM:612562
HP:0000006	Autosomal dominant inheritance	6125	RPL5	OMIM:612561
HP:0000006	Autosomal dominant inheritance	6201	RPS7	OMIM:612563
HP:0000006	Autosomal dominant inheritance	10846	PDE10A	OMIM:616922
HP:0000006	Autosomal dominant inheritance	8085	KMT2D	OMIM:620186
HP:0000006	Autosomal dominant inheritance	8085	KMT2D	OMIM:147920
HP:0000006	Autosomal dominant inheritance	11146	GLMN	OMIM:138000
HP:0000006	Autosomal dominant inheritance	9896	FIG4	OMIM:612577
HP:0000006	Autosomal dominant inheritance	1962	EHHADH	OMIM:615605
HP:0000006	Autosomal dominant inheritance	8106	PABPN1	OMIM:164300
HP:0000006	Autosomal dominant inheritance	1013	CDH15	OMIM:612580
HP:0000006	Autosomal dominant inheritance	3313	HSPA9	OMIM:182170
HP:0000006	Autosomal dominant inheritance	6929	TCF3	OMIM:616941
HP:0000006	Autosomal dominant inheritance	2074	ERCC6	OMIM:616946
HP:0000006	Autosomal dominant inheritance	2074	ERCC6	OMIM:211980
HP:0000006	Autosomal dominant inheritance	29119	CTNNA3	OMIM:615616
HP:0000006	Autosomal dominant inheritance	5424	POLD1	OMIM:612591
HP:0000006	Autosomal dominant inheritance	5424	POLD1	OMIM:620836
HP:0000006	Autosomal dominant inheritance	5424	POLD1	OMIM:615381
HP:0000006	Autosomal dominant inheritance	51308	REEP2	OMIM:615625
HP:0000006	Autosomal dominant inheritance	3371	TNC	OMIM:615629
HP:0000006	Autosomal dominant inheritance	3640	INSL3	OMIM:219050
HP:0000006	Autosomal dominant inheritance	3798	KIF5A	OMIM:604187
HP:0000006	Autosomal dominant inheritance	3798	KIF5A	OMIM:617235
HP:0000006	Autosomal dominant inheritance	3798	KIF5A	OMIM:617921
HP:0000006	Autosomal dominant inheritance	2934	GSN	OMIM:105120
HP:0000006	Autosomal dominant inheritance	6390	SDHB	OMIM:115310
HP:0000006	Autosomal dominant inheritance	6390	SDHB	OMIM:606764
HP:0000006	Autosomal dominant inheritance	25923	ATL3	OMIM:615632
HP:0000006	Autosomal dominant inheritance	4171	MCM2	OMIM:616968
HP:0000006	Autosomal dominant inheritance	4038	LRP4	OMIM:614305
HP:0000006	Autosomal dominant inheritance	406960	MIR184	OMIM:614303
HP:0000006	Autosomal dominant inheritance	3067	HDC	OMIM:137580
HP:0000006	Autosomal dominant inheritance	8763	CD164	OMIM:616969
HP:0000006	Autosomal dominant inheritance	6473	SHOX	OMIM:127300
HP:0000006	Autosomal dominant inheritance	4010	LMX1B	OMIM:161200
HP:0000006	Autosomal dominant inheritance	1837	DTNA	OMIM:604169
HP:0000006	Autosomal dominant inheritance	53630	BCO1	OMIM:115300
HP:0000006	Autosomal dominant inheritance	473	RERE	OMIM:616975
HP:0000006	Autosomal dominant inheritance	2782	GNB1	OMIM:616973
HP:0000006	Autosomal dominant inheritance	3097	HIVEP2	OMIM:616977
HP:0000006	Autosomal dominant inheritance	1588	CYP19A1	OMIM:139300
HP:0000006	Autosomal dominant inheritance	8314	BAP1	OMIM:614327
HP:0000006	Autosomal dominant inheritance	8314	BAP1	OMIM:606661
HP:0000006	Autosomal dominant inheritance	8314	BAP1	OMIM:619762
HP:0000006	Autosomal dominant inheritance	7050	TGIF1	OMIM:142946
HP:0000006	Autosomal dominant inheritance	4507	MTAP	OMIM:112250
HP:0000006	Autosomal dominant inheritance	3868	KRT16	OMIM:613000
HP:0000006	Autosomal dominant inheritance	3868	KRT16	OMIM:167200
HP:0000006	Autosomal dominant inheritance	7098	TLR3	OMIM:613002
HP:0000006	Autosomal dominant inheritance	4604	MYBPC1	OMIM:614335
HP:0000006	Autosomal dominant inheritance	4604	MYBPC1	OMIM:618524
HP:0000006	Autosomal dominant inheritance	121278	TPH2	OMIM:613003
HP:0000006	Autosomal dominant inheritance	7476	WNT7A	OMIM:613005
HP:0000006	Autosomal dominant inheritance	5395	PMS2	OMIM:614337
HP:0000006	Autosomal dominant inheritance	3674	ITGA2B	OMIM:187800
HP:0000006	Autosomal dominant inheritance	1816	DRD5	OMIM:606798
HP:0000006	Autosomal dominant inheritance	1816	DRD5	OMIM:143465
HP:0000006	Autosomal dominant inheritance	8929	PHOX2B	OMIM:613013
HP:0000006	Autosomal dominant inheritance	8929	PHOX2B	OMIM:209880
HP:0000006	Autosomal dominant inheritance	286077	FAM83H	OMIM:130900
HP:0000006	Autosomal dominant inheritance	54583	EGLN1	OMIM:609820
HP:0000006	Autosomal dominant inheritance	2065	ERBB3	OMIM:133180
HP:0000006	Autosomal dominant inheritance	8936	WASF1	OMIM:618707
HP:0000006	Autosomal dominant inheritance	28514	DLL1	OMIM:618709
HP:0000006	Autosomal dominant inheritance	1056	CEL	OMIM:609812
HP:0000006	Autosomal dominant inheritance	1786	DNMT1	OMIM:604121
HP:0000006	Autosomal dominant inheritance	1786	DNMT1	OMIM:614116
HP:0000006	Autosomal dominant inheritance	9516	LITAF	OMIM:601098
HP:0000006	Autosomal dominant inheritance	93649	MYOCD	OMIM:618719
HP:0000006	Autosomal dominant inheritance	4014	LORICRIN	OMIM:604117
HP:0000006	Autosomal dominant inheritance	51317	PHF21A	OMIM:618725
HP:0000006	Autosomal dominant inheritance	56983	POGLUT1	OMIM:615696
HP:0000006	Autosomal dominant inheritance	6137	RPL13	OMIM:618728
HP:0000006	Autosomal dominant inheritance	5449	POU1F1	OMIM:613038
HP:0000006	Autosomal dominant inheritance	646	BNC1	OMIM:618723
HP:0000006	Autosomal dominant inheritance	1956	EGFR	OMIM:211980
HP:0000006	Autosomal dominant inheritance	5519	PPP2R1B	OMIM:211980
HP:0000006	Autosomal dominant inheritance	1326	MAP3K8	OMIM:211980
HP:0000006	Autosomal dominant inheritance	1548	CYP2A6	OMIM:211980
HP:0000006	Autosomal dominant inheritance	1548	CYP2A6	OMIM:122700
HP:0000006	Autosomal dominant inheritance	356	FASLG	OMIM:211980
HP:0000006	Autosomal dominant inheritance	356	FASLG	OMIM:601859
HP:0000006	Autosomal dominant inheritance	6496	SIX3	OMIM:157170
HP:0000006	Autosomal dominant inheritance	6910	TBX5	OMIM:142900
HP:0000006	Autosomal dominant inheritance	6391	SDHC	OMIM:606764
HP:0000006	Autosomal dominant inheritance	6391	SDHC	OMIM:605373
HP:0000006	Autosomal dominant inheritance	3815	KIT	OMIM:606764
HP:0000006	Autosomal dominant inheritance	3815	KIT	OMIM:154800
HP:0000006	Autosomal dominant inheritance	3815	KIT	OMIM:172800
HP:0000006	Autosomal dominant inheritance	3815	KIT	OMIM:601626
HP:0000006	Autosomal dominant inheritance	116369	SLC26A8	OMIM:606766
HP:0000006	Autosomal dominant inheritance	4153	MBL2	OMIM:614372
HP:0000006	Autosomal dominant inheritance	10654	PMVK	OMIM:175800
HP:0000006	Autosomal dominant inheritance	7545	ZIC1	OMIM:618736
HP:0000006	Autosomal dominant inheritance	7545	ZIC1	OMIM:616602
HP:0000006	Autosomal dominant inheritance	1460	CSNK2B	OMIM:618732
HP:0000006	Autosomal dominant inheritance	6155	RPL27	OMIM:617408
HP:0000006	Autosomal dominant inheritance	8449	DHX16	OMIM:618733
HP:0000006	Autosomal dominant inheritance	55901	THSD1	OMIM:618734
HP:0000006	Autosomal dominant inheritance	2746	GLUD1	OMIM:606762
HP:0000006	Autosomal dominant inheritance	3207	HOXA11	OMIM:605432
HP:0000006	Autosomal dominant inheritance	6232	RPS27	OMIM:617409
HP:0000006	Autosomal dominant inheritance	6335	SCN9A	OMIM:133020
HP:0000006	Autosomal dominant inheritance	6335	SCN9A	OMIM:167400
HP:0000006	Autosomal dominant inheritance	735	C9	OMIM:615591
HP:0000006	Autosomal dominant inheritance	8367	H4C5	OMIM:619950
HP:0000006	Autosomal dominant inheritance	8294	H4C9	OMIM:619951
HP:0000006	Autosomal dominant inheritance	63036	CELA2A	OMIM:618620
HP:0000006	Autosomal dominant inheritance	55654	TMEM127	OMIM:171300
HP:0000006	Autosomal dominant inheritance	4149	MAX	OMIM:171300
HP:0000006	Autosomal dominant inheritance	4149	MAX	OMIM:620712
HP:0000006	Autosomal dominant inheritance	10054	UBA2	OMIM:619959
HP:0000006	Autosomal dominant inheritance	26873	OPLAH	OMIM:260005
HP:0000006	Autosomal dominant inheritance	22800	RRAS2	OMIM:618624
HP:0000006	Autosomal dominant inheritance	6720	SREBF1	OMIM:158310
HP:0000006	Autosomal dominant inheritance	6720	SREBF1	OMIM:619016
HP:0000006	Autosomal dominant inheritance	101060691	NUTM2B-AS1	OMIM:618637
HP:0000006	Autosomal dominant inheritance	79577	CDC73	OMIM:145000
HP:0000006	Autosomal dominant inheritance	79577	CDC73	OMIM:145001
HP:0000006	Autosomal dominant inheritance	79577	CDC73	OMIM:608266
HP:0000006	Autosomal dominant inheritance	2670	GFAP	OMIM:203450
HP:0000006	Autosomal dominant inheritance	10565	ARFGEF1	OMIM:619964
HP:0000006	Autosomal dominant inheritance	535	ATP6V0A1	OMIM:619970
HP:0000006	Autosomal dominant inheritance	8930	MBD4	OMIM:619975
HP:0000006	Autosomal dominant inheritance	8930	MBD4	OMIM:606660
HP:0000006	Autosomal dominant inheritance	7123	CLEC3B	OMIM:619977
HP:0000006	Autosomal dominant inheritance	54361	WNT4	OMIM:158330
HP:0000006	Autosomal dominant inheritance	652	BMP4	OMIM:607932
HP:0000006	Autosomal dominant inheritance	22884	WDR37	OMIM:618652
HP:0000006	Autosomal dominant inheritance	1656	DDX6	OMIM:618653
HP:0000006	Autosomal dominant inheritance	83636	C19orf12	OMIM:614298
HP:0000006	Autosomal dominant inheritance	57178	ZMIZ1	OMIM:618659
HP:0000006	Autosomal dominant inheritance	90268	OTULIN	OMIM:619986
HP:0000006	Autosomal dominant inheritance	3782	KCNN3	OMIM:618658
HP:0000006	Autosomal dominant inheritance	9897	WASHC5	OMIM:603563
HP:0000006	Autosomal dominant inheritance	25794	FSCN2	OMIM:607921
HP:0000006	Autosomal dominant inheritance	253738	EBF3	OMIM:617330
HP:0000006	Autosomal dominant inheritance	23432	GPR161	OMIM:155255
HP:0000006	Autosomal dominant inheritance	8518	ELP1	OMIM:155255
HP:0000006	Autosomal dominant inheritance	8643	PTCH2	OMIM:155255
HP:0000006	Autosomal dominant inheritance	7862	BRPF1	OMIM:617333
HP:0000006	Autosomal dominant inheritance	126695	KDF1	OMIM:617337
HP:0000006	Autosomal dominant inheritance	249	ALPL	OMIM:146300
HP:0000006	Autosomal dominant inheritance	1660	DHX9	OMIM:620988
HP:0000006	Autosomal dominant inheritance	389692	MAFA	OMIM:147630
HP:0000006	Autosomal dominant inheritance	132884	EVC2	OMIM:193530
HP:0000006	Autosomal dominant inheritance	2121	EVC	OMIM:193530
HP:0000006	Autosomal dominant inheritance	131405	TRIM71	OMIM:618667
HP:0000006	Autosomal dominant inheritance	7337	UBE3A	OMIM:105830
HP:0000006	Autosomal dominant inheritance	6638	SNRPN	OMIM:105830
HP:0000006	Autosomal dominant inheritance	10117	ENAM	OMIM:104500
HP:0000006	Autosomal dominant inheritance	26137	ZBTB20	OMIM:259050
HP:0000006	Autosomal dominant inheritance	55596	ZCCHC8	OMIM:618674
HP:0000006	Autosomal dominant inheritance	9247	GCM2	OMIM:617343
HP:0000006	Autosomal dominant inheritance	4849	CNOT3	OMIM:618672
HP:0000006	Autosomal dominant inheritance	2301	FOXE3	OMIM:617349
HP:0000006	Autosomal dominant inheritance	3835	KIF22	OMIM:603546
HP:0000006	Autosomal dominant inheritance	285282	RABL3	OMIM:618680
HP:0000006	Autosomal dominant inheritance	4851	NOTCH1	OMIM:616028
HP:0000006	Autosomal dominant inheritance	4851	NOTCH1	OMIM:109730
HP:0000006	Autosomal dominant inheritance	9725	TMEM63A	OMIM:618688
HP:0000006	Autosomal dominant inheritance	4488	MSX2	OMIM:168550
HP:0000006	Autosomal dominant inheritance	4488	MSX2	OMIM:168500
HP:0000006	Autosomal dominant inheritance	4488	MSX2	OMIM:604757
HP:0000006	Autosomal dominant inheritance	54443	ANLN	OMIM:616032
HP:0000006	Autosomal dominant inheritance	6121	RPE65	OMIM:618697
HP:0000006	Autosomal dominant inheritance	8621	CDK13	OMIM:617360
HP:0000006	Autosomal dominant inheritance	5310	PKD1	OMIM:173900
HP:0000006	Autosomal dominant inheritance	5587	PRKD1	OMIM:617364
HP:0000006	Autosomal dominant inheritance	2302	FOXJ1	OMIM:618699
HP:0000006	Autosomal dominant inheritance	127833	SYT2	OMIM:616040
HP:0000006	Autosomal dominant inheritance	57465	TBC1D24	OMIM:616044
HP:0000006	Autosomal dominant inheritance	10049	DNAJB6	OMIM:603511
HP:0000006	Autosomal dominant inheritance	440193	CCDC88C	OMIM:616053
HP:0000006	Autosomal dominant inheritance	25814	ATXN10	OMIM:603516
HP:0000006	Autosomal dominant inheritance	3745	KCNB1	OMIM:616056
HP:0000006	Autosomal dominant inheritance	23780	APOL2	OMIM:181500
HP:0000006	Autosomal dominant inheritance	267012	DAOA	OMIM:181500
HP:0000006	Autosomal dominant inheritance	6854	SYN2	OMIM:181500
HP:0000006	Autosomal dominant inheritance	27184	DISC2	OMIM:181500
HP:0000006	Autosomal dominant inheritance	65078	RTN4R	OMIM:181500
HP:0000006	Autosomal dominant inheritance	80832	APOL4	OMIM:181500
HP:0000006	Autosomal dominant inheritance	1116	CHI3L1	OMIM:181500
HP:0000006	Autosomal dominant inheritance	1027	CDKN1B	OMIM:610755
HP:0000006	Autosomal dominant inheritance	9126	SMC3	OMIM:610759
HP:0000006	Autosomal dominant inheritance	3192	HNRNPU	OMIM:617391
HP:0000006	Autosomal dominant inheritance	63910	SLC17A9	OMIM:616063
HP:0000006	Autosomal dominant inheritance	112939	NACC1	OMIM:617393
HP:0000006	Autosomal dominant inheritance	2260	FGFR1	OMIM:190440
HP:0000006	Autosomal dominant inheritance	2260	FGFR1	OMIM:166250
HP:0000006	Autosomal dominant inheritance	2260	FGFR1	OMIM:147950
HP:0000006	Autosomal dominant inheritance	2260	FGFR1	OMIM:123150
HP:0000006	Autosomal dominant inheritance	2260	FGFR1	OMIM:615465
HP:0000006	Autosomal dominant inheritance	2260	FGFR1	OMIM:101600
HP:0000006	Autosomal dominant inheritance	10524	KAT5	OMIM:619103
HP:0000006	Autosomal dominant inheritance	9445	ITM2B	OMIM:616079
HP:0000006	Autosomal dominant inheritance	9445	ITM2B	OMIM:117300
HP:0000006	Autosomal dominant inheritance	9445	ITM2B	OMIM:176500
HP:0000006	Autosomal dominant inheritance	10771	ZMYND11	OMIM:616083
HP:0000006	Autosomal dominant inheritance	1300	COL10A1	OMIM:156500
HP:0000006	Autosomal dominant inheritance	29895	MYL11	OMIM:619110
HP:0000006	Autosomal dominant inheritance	3839	KPNA3	OMIM:620106
HP:0000006	Autosomal dominant inheritance	80320	SP6	OMIM:620104
HP:0000006	Autosomal dominant inheritance	7078	TIMP3	OMIM:136900
HP:0000006	Autosomal dominant inheritance	6253	RTN2	OMIM:604805
HP:0000006	Autosomal dominant inheritance	10220	GDF11	OMIM:619122
HP:0000006	Autosomal dominant inheritance	79809	TTC21B	OMIM:613820
HP:0000006	Autosomal dominant inheritance	23031	MAST3	OMIM:620115
HP:0000006	Autosomal dominant inheritance	8911	CACNA1I	OMIM:620114
HP:0000006	Autosomal dominant inheritance	3710	ITPR3	OMIM:620111
HP:0000006	Autosomal dominant inheritance	2979	GUCA1B	OMIM:613827
HP:0000006	Autosomal dominant inheritance	9759	HDAC4	OMIM:600430
HP:0000006	Autosomal dominant inheritance	9759	HDAC4	OMIM:619797
HP:0000006	Autosomal dominant inheritance	64376	IKZF5	OMIM:619130
HP:0000006	Autosomal dominant inheritance	120892	LRRK2	OMIM:607060
HP:0000006	Autosomal dominant inheritance	51778	MYOZ2	OMIM:613838
HP:0000006	Autosomal dominant inheritance	654	BMP6	OMIM:620121
HP:0000006	Autosomal dominant inheritance	899	CCNF	OMIM:619141
HP:0000006	Autosomal dominant inheritance	860	RUNX2	OMIM:156510
HP:0000006	Autosomal dominant inheritance	860	RUNX2	OMIM:119600
HP:0000006	Autosomal dominant inheritance	27161	AGO2	OMIM:619149
HP:0000006	Autosomal dominant inheritance	5567	PRKACB	OMIM:619143
HP:0000006	Autosomal dominant inheritance	7389	UROD	OMIM:176100
HP:0000006	Autosomal dominant inheritance	1462	VCAN	OMIM:143200
HP:0000006	Autosomal dominant inheritance	6495	SIX1	OMIM:608389
HP:0000006	Autosomal dominant inheritance	6495	SIX1	OMIM:113650
HP:0000006	Autosomal dominant inheritance	6495	SIX1	OMIM:605192
HP:0000006	Autosomal dominant inheritance	23019	CNOT1	OMIM:619033
HP:0000006	Autosomal dominant inheritance	23019	CNOT1	OMIM:618500
HP:0000006	Autosomal dominant inheritance	55851	PSENEN	OMIM:613736
HP:0000006	Autosomal dominant inheritance	4774	NFIA	OMIM:613735
HP:0000006	Autosomal dominant inheritance	7003	TEAD1	OMIM:108985
HP:0000006	Autosomal dominant inheritance	10992	SF3B2	OMIM:164210
HP:0000006	Autosomal dominant inheritance	355	FAS	OMIM:601859
HP:0000006	Autosomal dominant inheritance	57674	RNF213	OMIM:607151
HP:0000006	Autosomal dominant inheritance	5498	PPOX	OMIM:176200
HP:0000006	Autosomal dominant inheritance	2160	F11	OMIM:612416
HP:0000006	Autosomal dominant inheritance	9211	LGI1	OMIM:600512
HP:0000006	Autosomal dominant inheritance	64780	MICAL1	OMIM:600512
HP:0000006	Autosomal dominant inheritance	729359	PLIN4	OMIM:601846
HP:0000006	Autosomal dominant inheritance	1137	CHRNA4	OMIM:600513
HP:0000006	Autosomal dominant inheritance	7040	TGFB1	OMIM:131300
HP:0000006	Autosomal dominant inheritance	4901	NRL	OMIM:613750
HP:0000006	Autosomal dominant inheritance	93	ACVR2B	OMIM:613751
HP:0000006	Autosomal dominant inheritance	6575	SLC20A2	OMIM:213600
HP:0000006	Autosomal dominant inheritance	4214	MAP3K1	OMIM:613762
HP:0000006	Autosomal dominant inheritance	5995	RGR	OMIM:613769
HP:0000006	Autosomal dominant inheritance	29880	ALG5	OMIM:620056
HP:0000006	Autosomal dominant inheritance	2719	GPC3	OMIM:194070
HP:0000006	Autosomal dominant inheritance	2239	GPC4	OMIM:194070
HP:0000006	Autosomal dominant inheritance	283120	H19	OMIM:194070
HP:0000006	Autosomal dominant inheritance	1576	CYP3A4	OMIM:619073
HP:0000006	Autosomal dominant inheritance	4953	ODC1	OMIM:619075
HP:0000006	Autosomal dominant inheritance	22900	CARD8	OMIM:619079
HP:0000006	Autosomal dominant inheritance	19	ABCA1	OMIM:604091
HP:0000006	Autosomal dominant inheritance	6660	SOX5	OMIM:616803
HP:0000006	Autosomal dominant inheritance	9990	SLC12A6	OMIM:620068
HP:0000006	Autosomal dominant inheritance	22859	ADGRL1	OMIM:620065
HP:0000006	Autosomal dominant inheritance	6558	SLC12A2	OMIM:619083
HP:0000006	Autosomal dominant inheritance	6558	SLC12A2	OMIM:619081
HP:0000006	Autosomal dominant inheritance	10236	HNRNPR	OMIM:620073
HP:0000006	Autosomal dominant inheritance	51611	DPH5	OMIM:620070
HP:0000006	Autosomal dominant inheritance	79966	SCD5	OMIM:619086
HP:0000006	Autosomal dominant inheritance	402	ARL2	OMIM:619082
HP:0000006	Autosomal dominant inheritance	5594	MAPK1	OMIM:619087
HP:0000006	Autosomal dominant inheritance	4638	MYLK	OMIM:613780
HP:0000006	Autosomal dominant inheritance	10253	SPRY2	OMIM:616818
HP:0000006	Autosomal dominant inheritance	6742	SSBP1	OMIM:165510
HP:0000006	Autosomal dominant inheritance	51085	MLXIPL	OMIM:194050
HP:0000006	Autosomal dominant inheritance	3187	HNRNPH1	OMIM:620083
HP:0000006	Autosomal dominant inheritance	22880	MORC2	OMIM:619090
HP:0000006	Autosomal dominant inheritance	22880	MORC2	OMIM:616688
HP:0000006	Autosomal dominant inheritance	11117	EMILIN1	OMIM:620080
HP:0000006	Autosomal dominant inheritance	4677	NARS1	OMIM:619092
HP:0000006	Autosomal dominant inheritance	10002	NR2E3	OMIM:611131
HP:0000006	Autosomal dominant inheritance	4088	SMAD3	OMIM:613795
HP:0000006	Autosomal dominant inheritance	2688	GH1	OMIM:173100
HP:0000006	Autosomal dominant inheritance	506	ATP5F1B	OMIM:620085
HP:0000006	Autosomal dominant inheritance	92154	MTSS2	OMIM:620086
HP:0000006	Autosomal dominant inheritance	84978	FRMD5	OMIM:620094
HP:0000006	Autosomal dominant inheritance	51053	GMNN	OMIM:616835
HP:0000006	Autosomal dominant inheritance	10664	CTCF	OMIM:615502
HP:0000006	Autosomal dominant inheritance	57592	ZNF687	OMIM:616833
HP:0000006	Autosomal dominant inheritance	23534	TNPO3	OMIM:608423
HP:0000006	Autosomal dominant inheritance	2658	GDF2	OMIM:615506
HP:0000006	Autosomal dominant inheritance	57716	PRX	OMIM:145900
HP:0000006	Autosomal dominant inheritance	3720	JARID2	OMIM:620098
HP:0000006	Autosomal dominant inheritance	865	CBFB	OMIM:620099
HP:0000006	Autosomal dominant inheritance	147495	APCDD1	OMIM:605389
HP:0000006	Autosomal dominant inheritance	2066	ERBB4	OMIM:615515
HP:0000006	Autosomal dominant inheritance	5293	PIK3CD	OMIM:615513
HP:0000006	Autosomal dominant inheritance	1417	CRYBB3	OMIM:609741
HP:0000006	Autosomal dominant inheritance	128866	CHMP4B	OMIM:605387
HP:0000006	Autosomal dominant inheritance	10847	SRCAP	OMIM:136140
HP:0000006	Autosomal dominant inheritance	123624	AGBL1	OMIM:615523
HP:0000006	Autosomal dominant inheritance	10483	SEC23B	OMIM:616858
HP:0000006	Autosomal dominant inheritance	5915	RARB	OMIM:615524
HP:0000006	Autosomal dominant inheritance	3914	LAMB3	OMIM:104530
HP:0000006	Autosomal dominant inheritance	1141	CHRNB2	OMIM:605375
HP:0000006	Autosomal dominant inheritance	55997	CFC1	OMIM:605376
HP:0000006	Autosomal dominant inheritance	60529	ALX4	OMIM:615529
HP:0000006	Autosomal dominant inheritance	60529	ALX4	OMIM:609597
HP:0000006	Autosomal dominant inheritance	55737	VPS35	OMIM:614203
HP:0000006	Autosomal dominant inheritance	7874	USP7	OMIM:616863
HP:0000006	Autosomal dominant inheritance	102	ADAM10	OMIM:615537
HP:0000006	Autosomal dominant inheritance	5582	PRKCG	OMIM:605361
HP:0000006	Autosomal dominant inheritance	51428	DDX41	OMIM:616871
HP:0000006	Autosomal dominant inheritance	55780	ERMARD	OMIM:615544
HP:0000006	Autosomal dominant inheritance	10320	IKZF1	OMIM:616873
HP:0000006	Autosomal dominant inheritance	11280	SCN11A	OMIM:615548
HP:0000006	Autosomal dominant inheritance	11280	SCN11A	OMIM:615552
HP:0000006	Autosomal dominant inheritance	6444	SGCD	OMIM:606685
HP:0000006	Autosomal dominant inheritance	6336	SCN10A	OMIM:615551
HP:0000006	Autosomal dominant inheritance	8863	PER3	OMIM:616882
HP:0000006	Autosomal dominant inheritance	6138	RPL15	OMIM:615550
HP:0000006	Autosomal dominant inheritance	80326	WNT10A	OMIM:150400
HP:0000006	Autosomal dominant inheritance	5618	PRLR	OMIM:615555
HP:0000006	Autosomal dominant inheritance	5618	PRLR	OMIM:615554
HP:0000006	Autosomal dominant inheritance	3747	KCNC2	OMIM:619913
HP:0000006	Autosomal dominant inheritance	284086	NEK8	OMIM:620903
HP:0000006	Autosomal dominant inheritance	57647	DHX37	OMIM:273250
HP:0000006	Autosomal dominant inheritance	490	ATP2B1	OMIM:619910
HP:0000006	Autosomal dominant inheritance	50937	CDON	OMIM:614226
HP:0000006	Autosomal dominant inheritance	1857	DVL3	OMIM:616894
HP:0000006	Autosomal dominant inheritance	2890	GRIA1	OMIM:619927
HP:0000006	Autosomal dominant inheritance	10243	GPHN	OMIM:149400
HP:0000006	Autosomal dominant inheritance	2741	GLRA1	OMIM:149400
HP:0000006	Autosomal dominant inheritance	9790	BMS1	OMIM:107600
HP:0000006	Autosomal dominant inheritance	3708	ITPR1	OMIM:606658
HP:0000006	Autosomal dominant inheritance	3708	ITPR1	OMIM:117360
HP:0000006	Autosomal dominant inheritance	3708	ITPR1	OMIM:206700
HP:0000006	Autosomal dominant inheritance	4791	NFKB2	OMIM:615577
HP:0000006	Autosomal dominant inheritance	5455	POU3F3	OMIM:618604
HP:0000006	Autosomal dominant inheritance	81545	FBXO38	OMIM:615575
HP:0000006	Autosomal dominant inheritance	9757	KMT2B	OMIM:619934
HP:0000006	Autosomal dominant inheritance	9757	KMT2B	OMIM:617284
HP:0000006	Autosomal dominant inheritance	5430	POLR2A	OMIM:618603
HP:0000006	Autosomal dominant inheritance	4848	CNOT2	OMIM:618608
HP:0000006	Autosomal dominant inheritance	4340	MOG	OMIM:614250
HP:0000006	Autosomal dominant inheritance	2902	GRIN1	OMIM:614254
HP:0000006	Autosomal dominant inheritance	1981	EIF4G1	OMIM:614251
HP:0000006	Autosomal dominant inheritance	7043	TGFB3	OMIM:615582
HP:0000006	Autosomal dominant inheritance	7043	TGFB3	OMIM:107970
HP:0000006	Autosomal dominant inheritance	22827	PUF60	OMIM:615583
HP:0000006	Autosomal dominant inheritance	2036	EPB41L1	OMIM:614257
HP:0000006	Autosomal dominant inheritance	3034	HAL	OMIM:235800
HP:0000006	Autosomal dominant inheritance	10369	CACNG2	OMIM:614256
HP:0000006	Autosomal dominant inheritance	406932	MIR140	OMIM:618618
HP:0000006	Autosomal dominant inheritance	54796	BNC2	OMIM:618612
HP:0000006	Autosomal dominant inheritance	58499	ZNF462	OMIM:618619
HP:0000006	Autosomal dominant inheritance	3299	HSF4	OMIM:116800
HP:0000006	Autosomal dominant inheritance	10194	TSHZ1	OMIM:607842
HP:0000006	Autosomal dominant inheritance	776	CACNA1D	OMIM:615474
HP:0000006	Autosomal dominant inheritance	23135	KDM6B	OMIM:618505
HP:0000006	Autosomal dominant inheritance	6659	SOX4	OMIM:618506
HP:0000006	Autosomal dominant inheritance	81570	CLPB	OMIM:619835
HP:0000006	Autosomal dominant inheritance	81570	CLPB	OMIM:619813
HP:0000006	Autosomal dominant inheritance	5927	KDM5A	OMIM:620820
HP:0000006	Autosomal dominant inheritance	27022	FOXD3	OMIM:607836
HP:0000006	Autosomal dominant inheritance	4653	MYOC	OMIM:137750
HP:0000006	Autosomal dominant inheritance	54332	GDAP1	OMIM:607831
HP:0000006	Autosomal dominant inheritance	56704	JPH1	OMIM:607831
HP:0000006	Autosomal dominant inheritance	51807	TUBA8	OMIM:619840
HP:0000006	Autosomal dominant inheritance	9578	CDC42BPB	OMIM:619841
HP:0000006	Autosomal dominant inheritance	80816	ASXL3	OMIM:615485
HP:0000006	Autosomal dominant inheritance	56616	DIABLO	OMIM:614152
HP:0000006	Autosomal dominant inheritance	10528	NOP56	OMIM:614153
HP:0000006	Autosomal dominant inheritance	644	BLVRA	OMIM:614156
HP:0000006	Autosomal dominant inheritance	55904	KMT2E	OMIM:618512
HP:0000006	Autosomal dominant inheritance	90	ACVR1	OMIM:135100
HP:0000006	Autosomal dominant inheritance	6772	STAT1	OMIM:614162
HP:0000006	Autosomal dominant inheritance	6772	STAT1	OMIM:614892
HP:0000006	Autosomal dominant inheritance	91	ACVR1B	OMIM:260350
HP:0000006	Autosomal dominant inheritance	6794	STK11	OMIM:260350
HP:0000006	Autosomal dominant inheritance	6794	STK11	OMIM:155600
HP:0000006	Autosomal dominant inheritance	6794	STK11	OMIM:175200
HP:0000006	Autosomal dominant inheritance	818	CAMK2G	OMIM:618522
HP:0000006	Autosomal dominant inheritance	8642	DCHS1	OMIM:607829
HP:0000006	Autosomal dominant inheritance	1407	CRY1	OMIM:614163
HP:0000006	Autosomal dominant inheritance	64834	ELOVL1	OMIM:618527
HP:0000006	Autosomal dominant inheritance	84146	ZNF644	OMIM:614167
HP:0000006	Autosomal dominant inheritance	2770	GNAI1	OMIM:619854
HP:0000006	Autosomal dominant inheritance	1733	DIO1	OMIM:619855
HP:0000006	Autosomal dominant inheritance	5139	PDE3A	OMIM:112410
HP:0000006	Autosomal dominant inheritance	23347	SMCHD1	OMIM:603457
HP:0000006	Autosomal dominant inheritance	2624	GATA2	OMIM:614172
HP:0000006	Autosomal dominant inheritance	2624	GATA2	OMIM:614038
HP:0000006	Autosomal dominant inheritance	2624	GATA2	OMIM:601626
HP:0000006	Autosomal dominant inheritance	8789	FBP2	OMIM:619864
HP:0000006	Autosomal dominant inheritance	23327	NEDD4L	OMIM:617201
HP:0000006	Autosomal dominant inheritance	6392	SDHD	OMIM:168000
HP:0000006	Autosomal dominant inheritance	26834	RNU4-2	OMIM:620851
HP:0000006	Autosomal dominant inheritance	4322	MMP13	OMIM:602111
HP:0000006	Autosomal dominant inheritance	10621	POLR3F	OMIM:619872
HP:0000006	Autosomal dominant inheritance	26038	CHD5	OMIM:619873
HP:0000006	Autosomal dominant inheritance	10935	PRDX3	OMIM:619871
HP:0000006	Autosomal dominant inheritance	7058	THBS2	OMIM:620865
HP:0000006	Autosomal dominant inheritance	845	CASQ2	OMIM:604772
HP:0000006	Autosomal dominant inheritance	10345	TRDN	OMIM:604772
HP:0000006	Autosomal dominant inheritance	30813	VSX1	OMIM:614195
HP:0000006	Autosomal dominant inheritance	30813	VSX1	OMIM:148300
HP:0000006	Autosomal dominant inheritance	9276	COPB2	OMIM:619884
HP:0000006	Autosomal dominant inheritance	56098	PCDHGC4	OMIM:619880
HP:0000006	Autosomal dominant inheritance	24145	PANX1	OMIM:618550
HP:0000006	Autosomal dominant inheritance	2555	GABRA2	OMIM:618557
HP:0000006	Autosomal dominant inheritance	2558	GABRA5	OMIM:618559
HP:0000006	Autosomal dominant inheritance	1749	DLX5	OMIM:183600
HP:0000006	Autosomal dominant inheritance	5308	PITX2	OMIM:180550
HP:0000006	Autosomal dominant inheritance	5308	PITX2	OMIM:180500
HP:0000006	Autosomal dominant inheritance	5308	PITX2	OMIM:137600
HP:0000006	Autosomal dominant inheritance	8974	P4HA2	OMIM:617238
HP:0000006	Autosomal dominant inheritance	6533	SLC6A6	OMIM:145350
HP:0000006	Autosomal dominant inheritance	5881	RAC3	OMIM:618577
HP:0000006	Autosomal dominant inheritance	338	APOB	OMIM:144010
HP:0000006	Autosomal dominant inheritance	203859	ANO5	OMIM:166260
HP:0000006	Autosomal dominant inheritance	2161	F12	OMIM:610618
HP:0000006	Autosomal dominant inheritance	94	ACVRL1	OMIM:600376
HP:0000006	Autosomal dominant inheritance	1173	AP2M1	OMIM:618587
HP:0000006	Autosomal dominant inheritance	60675	PROK2	OMIM:610628
HP:0000006	Autosomal dominant inheritance	6229	RPS24	OMIM:610629
HP:0000006	Autosomal dominant inheritance	123606	NIPA1	OMIM:600363
HP:0000006	Autosomal dominant inheritance	153	ADRB1	OMIM:618591
HP:0000006	Autosomal dominant inheritance	7707	ZNF148	OMIM:617260
HP:0000006	Autosomal dominant inheritance	57520	HECW2	OMIM:617268
HP:0000006	Autosomal dominant inheritance	1760	DMPK	OMIM:160900
HP:0000006	Autosomal dominant inheritance	64388	GREM2	OMIM:617275
HP:0000006	Autosomal dominant inheritance	6530	SLC6A2	OMIM:604715
HP:0000006	Autosomal dominant inheritance	57522	SRGAP1	OMIM:188470
HP:0000006	Autosomal dominant inheritance	9562	MINPP1	OMIM:188470
HP:0000006	Autosomal dominant inheritance	551	AVP	OMIM:125700
HP:0000006	Autosomal dominant inheritance	7136	TNNI2	OMIM:601680
HP:0000006	Autosomal dominant inheritance	4635	MYL4	OMIM:617280
HP:0000006	Autosomal dominant inheritance	155	ADRB3	OMIM:601665
HP:0000006	Autosomal dominant inheritance	7352	UCP3	OMIM:601665
HP:0000006	Autosomal dominant inheritance	5443	POMC	OMIM:601665
HP:0000006	Autosomal dominant inheritance	8431	NR0B2	OMIM:601665
HP:0000006	Autosomal dominant inheritance	9607	CARTPT	OMIM:601665
HP:0000006	Autosomal dominant inheritance	51738	GHRL	OMIM:601665
HP:0000006	Autosomal dominant inheritance	9672	SDC3	OMIM:601665
HP:0000006	Autosomal dominant inheritance	181	AGRP	OMIM:601665
HP:0000006	Autosomal dominant inheritance	57498	KIDINS220	OMIM:617296
HP:0000006	Autosomal dominant inheritance	54800	KLHL24	OMIM:617294
HP:0000006	Autosomal dominant inheritance	54949	SDHAF2	OMIM:601650
HP:0000006	Autosomal dominant inheritance	2628	GATM	OMIM:134600
HP:0000006	Autosomal dominant inheritance	23067	SETD1B	OMIM:619000
HP:0000006	Autosomal dominant inheritance	9573	GDF3	OMIM:613703
HP:0000006	Autosomal dominant inheritance	9573	GDF3	OMIM:613702
HP:0000006	Autosomal dominant inheritance	9573	GDF3	OMIM:613704
HP:0000006	Autosomal dominant inheritance	2668	GDNF	OMIM:613711
HP:0000006	Autosomal dominant inheritance	3110	MNX1	OMIM:176450
HP:0000006	Autosomal dominant inheritance	1371	CPOX	OMIM:121300
HP:0000006	Autosomal dominant inheritance	51082	POLR1D	OMIM:613717
HP:0000006	Autosomal dominant inheritance	80217	CFAP43	OMIM:236690
HP:0000006	Autosomal dominant inheritance	8910	SGCE	OMIM:159900
HP:0000006	Autosomal dominant inheritance	3785	KCNQ2	OMIM:613720
HP:0000006	Autosomal dominant inheritance	3785	KCNQ2	OMIM:121200
HP:0000006	Autosomal dominant inheritance	8914	TIMELESS	OMIM:620015
HP:0000006	Autosomal dominant inheritance	55294	FBXW7	OMIM:620012
HP:0000006	Autosomal dominant inheritance	7403	KDM6A	OMIM:147920
HP:0000006	Autosomal dominant inheritance	128674	PROKR2	OMIM:244200
HP:0000006	Autosomal dominant inheritance	176	ACAN	OMIM:608361
HP:0000006	Autosomal dominant inheritance	176	ACAN	OMIM:165800
HP:0000006	Autosomal dominant inheritance	1559	CYP2C9	OMIM:122700
HP:0000006	Autosomal dominant inheritance	79001	VKORC1	OMIM:122700
HP:0000006	Autosomal dominant inheritance	5921	RASA1	OMIM:608354
HP:0000006	Autosomal dominant inheritance	9750	RIPOR2	OMIM:607017
HP:0000006	Autosomal dominant inheritance	9517	SPTLC2	OMIM:613640
HP:0000006	Autosomal dominant inheritance	23314	SATB2	OMIM:612313
HP:0000006	Autosomal dominant inheritance	80216	ALPK1	OMIM:614979
HP:0000006	Autosomal dominant inheritance	2903	GRIN2A	OMIM:245570
HP:0000006	Autosomal dominant inheritance	23118	TAB2	OMIM:614980
HP:0000006	Autosomal dominant inheritance	3418	IDH2	OMIM:613657
HP:0000006	Autosomal dominant inheritance	338567	KCNK18	OMIM:613656
HP:0000006	Autosomal dominant inheritance	64419	MTMR14	OMIM:160150
HP:0000006	Autosomal dominant inheritance	1785	DNM2	OMIM:160150
HP:0000006	Autosomal dominant inheritance	1785	DNM2	OMIM:606482
HP:0000006	Autosomal dominant inheritance	368	ABCC6	OMIM:177850
HP:0000006	Autosomal dominant inheritance	10472	ZBTB18	OMIM:612337
HP:0000006	Autosomal dominant inheritance	5627	PROS1	OMIM:612336
HP:0000006	Autosomal dominant inheritance	8565	YARS1	OMIM:608323
HP:0000006	Autosomal dominant inheritance	4205	MEF2A	OMIM:608320
HP:0000006	Autosomal dominant inheritance	27086	FOXP1	OMIM:613670
HP:0000006	Autosomal dominant inheritance	10661	KLF1	OMIM:613673
HP:0000006	Autosomal dominant inheritance	3329	HSPD1	OMIM:605280
HP:0000006	Autosomal dominant inheritance	64321	SOX17	OMIM:613674
HP:0000006	Autosomal dominant inheritance	51322	WAC	OMIM:616708
HP:0000006	Autosomal dominant inheritance	9455	HOMER2	OMIM:616707
HP:0000006	Autosomal dominant inheritance	7546	ZIC2	OMIM:609637
HP:0000006	Autosomal dominant inheritance	51142	CHCHD2	OMIM:616710
HP:0000006	Autosomal dominant inheritance	144245	ALG10B	OMIM:613688
HP:0000006	Autosomal dominant inheritance	3757	KCNH2	OMIM:613688
HP:0000006	Autosomal dominant inheritance	3757	KCNH2	OMIM:609620
HP:0000006	Autosomal dominant inheritance	3053	SERPIND1	OMIM:612356
HP:0000006	Autosomal dominant inheritance	3736	KCNA1	OMIM:160120
HP:0000006	Autosomal dominant inheritance	406987	MIR204	OMIM:616722
HP:0000006	Autosomal dominant inheritance	3753	KCNE1	OMIM:613695
HP:0000006	Autosomal dominant inheritance	23028	KDM1A	OMIM:616728
HP:0000006	Autosomal dominant inheritance	9780	PIEZO1	OMIM:194380
HP:0000006	Autosomal dominant inheritance	3748	KCNC3	OMIM:605259
HP:0000006	Autosomal dominant inheritance	998	CDC42	OMIM:616737
HP:0000006	Autosomal dominant inheritance	26011	TENM4	OMIM:616736
HP:0000006	Autosomal dominant inheritance	10982	MAPRE2	OMIM:616734
HP:0000006	Autosomal dominant inheritance	2122	MECOM	OMIM:616738
HP:0000006	Autosomal dominant inheritance	6314	ATXN7	OMIM:164500
HP:0000006	Autosomal dominant inheritance	889	KRIT1	OMIM:116860
HP:0000006	Autosomal dominant inheritance	7283	TUBG1	OMIM:615412
HP:0000006	Autosomal dominant inheritance	7128	TNFAIP3	OMIM:616744
HP:0000006	Autosomal dominant inheritance	340719	NANOS1	OMIM:615413
HP:0000006	Autosomal dominant inheritance	3796	KIF2A	OMIM:615411
HP:0000006	Autosomal dominant inheritance	56244	BTNL2	OMIM:612387
HP:0000006	Autosomal dominant inheritance	201973	PRIMPOL	OMIM:615420
HP:0000006	Autosomal dominant inheritance	1859	DYRK1A	OMIM:614104
HP:0000006	Autosomal dominant inheritance	79853	TM4SF20	OMIM:615432
HP:0000006	Autosomal dominant inheritance	5592	PRKG1	OMIM:615436
HP:0000006	Autosomal dominant inheritance	23328	SASH1	OMIM:127500
HP:0000006	Autosomal dominant inheritance	3060	HCRT	OMIM:161400
HP:0000006	Autosomal dominant inheritance	56910	STARD7	OMIM:607876
HP:0000006	Autosomal dominant inheritance	491	ATP2B2	OMIM:619804
HP:0000006	Autosomal dominant inheritance	5654	HTRA1	OMIM:616779
HP:0000006	Autosomal dominant inheritance	3123	HLA-DRB1	OMIM:181000
HP:0000006	Autosomal dominant inheritance	347688	TUBB8	OMIM:616780
HP:0000006	Autosomal dominant inheritance	56172	ANKH	OMIM:118600
HP:0000006	Autosomal dominant inheritance	56172	ANKH	OMIM:123000
HP:0000006	Autosomal dominant inheritance	1748	DLX4	OMIM:616788
HP:0000006	Autosomal dominant inheritance	24	ABCA4	OMIM:153800
HP:0000006	Autosomal dominant inheritance	23389	MED13L	OMIM:616789
HP:0000006	Autosomal dominant inheritance	5699	PSMB10	OMIM:620807
HP:0000006	Autosomal dominant inheritance	2752	GLUL	OMIM:620806
HP:0000006	Autosomal dominant inheritance	79875	THSD4	OMIM:619825
HP:0000006	Autosomal dominant inheritance	1297	COL9A1	OMIM:614135
HP:0000006	Autosomal dominant inheritance	54829	ASPN	OMIM:607850
HP:0000006	Autosomal dominant inheritance	8036	SHOC2	OMIM:607721
HP:0000006	Autosomal dominant inheritance	57468	SLC12A5	OMIM:616685
HP:0000006	Autosomal dominant inheritance	3783	KCNN4	OMIM:616689
HP:0000006	Autosomal dominant inheritance	23418	CRB1	OMIM:172870
HP:0000006	Autosomal dominant inheritance	6016	RIT1	OMIM:615355
HP:0000006	Autosomal dominant inheritance	6938	TCF12	OMIM:619718
HP:0000006	Autosomal dominant inheritance	6938	TCF12	OMIM:615314
HP:0000006	Autosomal dominant inheritance	4254	KITLG	OMIM:145250
HP:0000006	Autosomal dominant inheritance	4254	KITLG	OMIM:616697
HP:0000006	Autosomal dominant inheritance	3703	STT3A	OMIM:619714
HP:0000006	Autosomal dominant inheritance	7849	PAX8	OMIM:218700
HP:0000006	Autosomal dominant inheritance	3020	H3-3A	OMIM:619720
HP:0000006	Autosomal dominant inheritance	3021	H3-3B	OMIM:619721
HP:0000006	Autosomal dominant inheritance	3029	HAGH	OMIM:614033
HP:0000006	Autosomal dominant inheritance	4598	MVK	OMIM:175900
HP:0000006	Autosomal dominant inheritance	1106	CHD2	OMIM:615369
HP:0000006	Autosomal dominant inheritance	3781	KCNN2	OMIM:619724
HP:0000006	Autosomal dominant inheritance	3781	KCNN2	OMIM:619725
HP:0000006	Autosomal dominant inheritance	60482	SLC5A7	OMIM:158580
HP:0000006	Autosomal dominant inheritance	9698	PUM1	OMIM:620719
HP:0000006	Autosomal dominant inheritance	9698	PUM1	OMIM:617931
HP:0000006	Autosomal dominant inheritance	63976	PRDM16	OMIM:615373
HP:0000006	Autosomal dominant inheritance	1293	COL6A3	OMIM:620726
HP:0000006	Autosomal dominant inheritance	4160	MC4R	OMIM:618406
HP:0000006	Autosomal dominant inheritance	6327	SCN2B	OMIM:615378
HP:0000006	Autosomal dominant inheritance	1292	COL6A2	OMIM:620725
HP:0000006	Autosomal dominant inheritance	1009	CDH11	OMIM:619736
HP:0000006	Autosomal dominant inheritance	7020	TFAP2A	OMIM:113620
HP:0000006	Autosomal dominant inheritance	55703	POLR3B	OMIM:619742
HP:0000006	Autosomal dominant inheritance	5442	POLRMT	OMIM:619743
HP:0000006	Autosomal dominant inheritance	51271	UBAP1	OMIM:618418
HP:0000006	Autosomal dominant inheritance	7855	FZD5	OMIM:620731
HP:0000006	Autosomal dominant inheritance	9518	GDF15	OMIM:620730
HP:0000006	Autosomal dominant inheritance	55012	PPP2R3C	OMIM:618420
HP:0000006	Autosomal dominant inheritance	3572	IL6ST	OMIM:619752
HP:0000006	Autosomal dominant inheritance	3572	IL6ST	OMIM:619750
HP:0000006	Autosomal dominant inheritance	8363	H4C11	OMIM:619759
HP:0000006	Autosomal dominant inheritance	51604	PIGT	OMIM:615399
HP:0000006	Autosomal dominant inheritance	57282	SLC4A10	OMIM:620746
HP:0000006	Autosomal dominant inheritance	8364	H4C3	OMIM:619758
HP:0000006	Autosomal dominant inheritance	53335	BCL11A	OMIM:617101
HP:0000006	Autosomal dominant inheritance	6942	TCF20	OMIM:618430
HP:0000006	Autosomal dominant inheritance	6506	SLC1A2	OMIM:617105
HP:0000006	Autosomal dominant inheritance	7140	TNNT3	OMIM:618435
HP:0000006	Autosomal dominant inheritance	140679	SLC32A1	OMIM:620755
HP:0000006	Autosomal dominant inheritance	140679	SLC32A1	OMIM:620774
HP:0000006	Autosomal dominant inheritance	6117	RPA1	OMIM:619767
HP:0000006	Autosomal dominant inheritance	4621	MYH3	OMIM:618436
HP:0000006	Autosomal dominant inheritance	4621	MYH3	OMIM:178110
HP:0000006	Autosomal dominant inheritance	4621	MYH3	OMIM:193700
HP:0000006	Autosomal dominant inheritance	7248	TSC1	OMIM:191100
HP:0000006	Autosomal dominant inheritance	54487	DGCR8	OMIM:192430
HP:0000006	Autosomal dominant inheritance	8214	DGCR6	OMIM:192430
HP:0000006	Autosomal dominant inheritance	8220	ESS2	OMIM:192430
HP:0000006	Autosomal dominant inheritance	9993	DGCR2	OMIM:192430
HP:0000006	Autosomal dominant inheritance	54894	RNF43	OMIM:617108
HP:0000006	Autosomal dominant inheritance	51341	ZBTB7A	OMIM:619769
HP:0000006	Autosomal dominant inheritance	2035	EPB41	OMIM:611804
HP:0000006	Autosomal dominant inheritance	23162	MAPK8IP3	OMIM:618443
HP:0000006	Autosomal dominant inheritance	2562	GABRB3	OMIM:617113
HP:0000006	Autosomal dominant inheritance	2562	GABRB3	OMIM:612269
HP:0000006	Autosomal dominant inheritance	7867	MAPKAPK3	OMIM:617111
HP:0000006	Autosomal dominant inheritance	8131	NPRL3	OMIM:617118
HP:0000006	Autosomal dominant inheritance	10641	NPRL2	OMIM:617116
HP:0000006	Autosomal dominant inheritance	23219	FBXO28	OMIM:619777
HP:0000006	Autosomal dominant inheritance	9496	TBX4	OMIM:147891
HP:0000006	Autosomal dominant inheritance	57192	MCOLN1	OMIM:620763
HP:0000006	Autosomal dominant inheritance	6330	SCN4B	OMIM:611819
HP:0000006	Autosomal dominant inheritance	5083	PAX9	OMIM:604625
HP:0000006	Autosomal dominant inheritance	3763	KCNJ6	OMIM:614098
HP:0000006	Autosomal dominant inheritance	120766137	HRURF	OMIM:146550
HP:0000006	Autosomal dominant inheritance	5062	PAK2	OMIM:618458
HP:0000006	Autosomal dominant inheritance	10142	AKAP9	OMIM:611820
HP:0000006	Autosomal dominant inheritance	30817	ADGRE2	OMIM:125630
HP:0000006	Autosomal dominant inheritance	11281	POU6F2	OMIM:601583
HP:0000006	Autosomal dominant inheritance	353116	RILPL1	OMIM:619790
HP:0000006	Autosomal dominant inheritance	8402	SLC25A11	OMIM:618464
HP:0000006	Autosomal dominant inheritance	2355	FOSL2	OMIM:620789
HP:0000006	Autosomal dominant inheritance	1071	CETP	OMIM:143470
HP:0000006	Autosomal dominant inheritance	4143	MAT1A	OMIM:250850
HP:0000006	Autosomal dominant inheritance	11267	SNF8	OMIM:620784
HP:0000006	Autosomal dominant inheritance	11267	SNF8	OMIM:620783
HP:0000006	Autosomal dominant inheritance	3786	KCNQ3	OMIM:121201
HP:0000006	Autosomal dominant inheritance	27235	COQ2	OMIM:146500
HP:0000006	Autosomal dominant inheritance	8462	KLF11	OMIM:610508
HP:0000006	Autosomal dominant inheritance	51412	ACTL6B	OMIM:618470
HP:0000006	Autosomal dominant inheritance	1743	DLST	OMIM:618475
HP:0000006	Autosomal dominant inheritance	54765	TRIM44	OMIM:617142
HP:0000006	Autosomal dominant inheritance	27286	SRPX2	OMIM:300643
HP:0000006	Autosomal dominant inheritance	26610	ELP4	OMIM:617141
HP:0000006	Autosomal dominant inheritance	6651	SON	OMIM:617140
HP:0000006	Autosomal dominant inheritance	1815	DRD4	OMIM:143465
HP:0000006	Autosomal dominant inheritance	5698	PSMB9	OMIM:620796
HP:0000006	Autosomal dominant inheritance	362	AQP5	OMIM:600231
HP:0000006	Autosomal dominant inheritance	2560	GABRB1	OMIM:617153
HP:0000006	Autosomal dominant inheritance	1041	CDSN	OMIM:146520
HP:0000006	Autosomal dominant inheritance	1108	CHD4	OMIM:617159
HP:0000006	Autosomal dominant inheritance	5313	PKLR	OMIM:102900
HP:0000006	Autosomal dominant inheritance	6712	SPTBN2	OMIM:600224
HP:0000006	Autosomal dominant inheritance	372	ARCN1	OMIM:617164
HP:0000006	Autosomal dominant inheritance	22808	MRAS	OMIM:618499
HP:0000006	Autosomal dominant inheritance	2906	GRIN2D	OMIM:617162
HP:0000006	Autosomal dominant inheritance	4015	LOX	OMIM:617168
HP:0000006	Autosomal dominant inheritance	54538	ROBO4	OMIM:618496
HP:0000006	Autosomal dominant inheritance	2257	FGF12	OMIM:617166
HP:0000006	Autosomal dominant inheritance	2192	FBLN1	OMIM:608180
HP:0000006	Autosomal dominant inheritance	1180	CLCN1	OMIM:160800
HP:0000006	Autosomal dominant inheritance	9343	EFTUD2	OMIM:610536
HP:0000006	Autosomal dominant inheritance	9791	PTDSS1	OMIM:151050
HP:0000006	Autosomal dominant inheritance	7007	TECTA	OMIM:601543
HP:0000006	Autosomal dominant inheritance	1415	CRYBB2	OMIM:601547
HP:0000006	Autosomal dominant inheritance	716	C1S	OMIM:617174
HP:0000006	Autosomal dominant inheritance	57514	ARHGAP31	OMIM:100300
HP:0000006	Autosomal dominant inheritance	6154	RPL26	OMIM:614900
HP:0000006	Autosomal dominant inheritance	783	CACNB2	OMIM:611876
HP:0000006	Autosomal dominant inheritance	55210	ATAD3A	OMIM:617183
HP:0000006	Autosomal dominant inheritance	1298	COL9A2	OMIM:600204
HP:0000006	Autosomal dominant inheritance	23516	SLC39A14	OMIM:144755
HP:0000006	Autosomal dominant inheritance	55252	ASXL2	OMIM:617190
HP:0000006	Autosomal dominant inheritance	283	ANG	OMIM:611895
HP:0000006	Autosomal dominant inheritance	6041	RNASEL	OMIM:601518
HP:0000006	Autosomal dominant inheritance	8996	NOL3	OMIM:614937
HP:0000006	Autosomal dominant inheritance	3480	IGF1R	OMIM:270450
HP:0000006	Autosomal dominant inheritance	10299	MARCHF6	OMIM:613608
HP:0000006	Autosomal dominant inheritance	26511	CHIC2	OMIM:601626
HP:0000006	Autosomal dominant inheritance	4026	LPP	OMIM:601626
HP:0000006	Autosomal dominant inheritance	8021	NUP214	OMIM:601626
HP:0000006	Autosomal dominant inheritance	8301	PICALM	OMIM:601626
HP:0000006	Autosomal dominant inheritance	8028	MLLT10	OMIM:601626
HP:0000006	Autosomal dominant inheritance	2322	FLT3	OMIM:601626
HP:0000006	Autosomal dominant inheritance	1050	CEBPA	OMIM:601626
HP:0000006	Autosomal dominant inheritance	6455	SH3GL1	OMIM:601626
HP:0000006	Autosomal dominant inheritance	4869	NPM1	OMIM:601626
HP:0000006	Autosomal dominant inheritance	146227	BEAN1	OMIM:117210
HP:0000006	Autosomal dominant inheritance	124404	SEPTIN12	OMIM:614822
HP:0000006	Autosomal dominant inheritance	6519	SLC3A1	OMIM:220100
HP:0000006	Autosomal dominant inheritance	11136	SLC7A9	OMIM:220100
HP:0000006	Autosomal dominant inheritance	50940	PDE11A	OMIM:610475
HP:0000006	Autosomal dominant inheritance	1824	DSC2	OMIM:610476
HP:0000006	Autosomal dominant inheritance	26012	NSMF	OMIM:614838
HP:0000006	Autosomal dominant inheritance	56262	LRRC8A	OMIM:613506
HP:0000006	Autosomal dominant inheritance	57492	ARID1B	OMIM:135900
HP:0000006	Autosomal dominant inheritance	23090	ZNF423	OMIM:614844
HP:0000006	Autosomal dominant inheritance	9639	ARHGEF10	OMIM:608236
HP:0000006	Autosomal dominant inheritance	7187	TRAF3	OMIM:614849
HP:0000006	Autosomal dominant inheritance	148022	TICAM1	OMIM:614850
HP:0000006	Autosomal dominant inheritance	6911	TBX6	OMIM:122600
HP:0000006	Autosomal dominant inheritance	55717	WDR11	OMIM:614858
HP:0000006	Autosomal dominant inheritance	22953	P2RX2	OMIM:608224
HP:0000006	Autosomal dominant inheritance	2243	FGA	OMIM:105200
HP:0000006	Autosomal dominant inheritance	5190	PEX6	OMIM:614863
HP:0000006	Autosomal dominant inheritance	4878	NPPA	OMIM:612201
HP:0000006	Autosomal dominant inheritance	4306	NR3C2	OMIM:177735
HP:0000006	Autosomal dominant inheritance	4306	NR3C2	OMIM:605115
HP:0000006	Autosomal dominant inheritance	9568	GABBR2	OMIM:617903
HP:0000006	Autosomal dominant inheritance	9568	GABBR2	OMIM:617904
HP:0000006	Autosomal dominant inheritance	84634	KISS1R	OMIM:176400
HP:0000006	Autosomal dominant inheritance	2056	EPO	OMIM:617907
HP:0000006	Autosomal dominant inheritance	9180	OSMR	OMIM:105250
HP:0000006	Autosomal dominant inheritance	9394	HS6ST1	OMIM:614880
HP:0000006	Autosomal dominant inheritance	10743	RAI1	OMIM:182290
HP:0000006	Autosomal dominant inheritance	140628	GATA5	OMIM:617912
HP:0000006	Autosomal dominant inheritance	867	CBL	OMIM:613563
HP:0000006	Autosomal dominant inheritance	867	CBL	OMIM:607785
HP:0000006	Autosomal dominant inheritance	3394	IRF8	OMIM:614893
HP:0000006	Autosomal dominant inheritance	22858	CILK1	OMIM:617924
HP:0000006	Autosomal dominant inheritance	10371	SEMA3A	OMIM:614897
HP:0000006	Autosomal dominant inheritance	113457	TUBA3D	OMIM:617928
HP:0000006	Autosomal dominant inheritance	6310	ATXN1	OMIM:164400
HP:0000006	Autosomal dominant inheritance	8729	GBF1	OMIM:606483
HP:0000006	Autosomal dominant inheritance	3741	KCNA5	OMIM:612240
HP:0000006	Autosomal dominant inheritance	6328	SCN3A	OMIM:617935
HP:0000006	Autosomal dominant inheritance	6328	SCN3A	OMIM:617938
HP:0000006	Autosomal dominant inheritance	94137	RP1L1	OMIM:613587
HP:0000006	Autosomal dominant inheritance	6710	SPTB	OMIM:617948
HP:0000006	Autosomal dominant inheritance	6710	SPTB	OMIM:616649
HP:0000006	Autosomal dominant inheritance	4297	KMT2A	OMIM:605130
HP:0000006	Autosomal dominant inheritance	3047	HBG1	OMIM:141749
HP:0000006	Autosomal dominant inheritance	3035	HARS1	OMIM:616625
HP:0000006	Autosomal dominant inheritance	2978	GUCA1A	OMIM:602093
HP:0000006	Autosomal dominant inheritance	23092	ARHGAP26	OMIM:607785
HP:0000006	Autosomal dominant inheritance	3791	KDR	OMIM:602089
HP:0000006	Autosomal dominant inheritance	84168	ANTXR1	OMIM:602089
HP:0000006	Autosomal dominant inheritance	811	CALR	OMIM:187950
HP:0000006	Autosomal dominant inheritance	1508	CTSB	OMIM:148370
HP:0000006	Autosomal dominant inheritance	54664	TMEM106B	OMIM:617964
HP:0000006	Autosomal dominant inheritance	2224	FDPS	OMIM:616631
HP:0000006	Autosomal dominant inheritance	2475	MTOR	OMIM:616638
HP:0000006	Autosomal dominant inheritance	93986	FOXP2	OMIM:602081
HP:0000006	Autosomal dominant inheritance	8820	HESX1	OMIM:182230
HP:0000006	Autosomal dominant inheritance	57338	JPH3	OMIM:606438
HP:0000006	Autosomal dominant inheritance	9368	NHERF1	OMIM:612287
HP:0000006	Autosomal dominant inheritance	6569	SLC34A1	OMIM:612286
HP:0000006	Autosomal dominant inheritance	29957	SLC25A24	OMIM:612289
HP:0000006	Autosomal dominant inheritance	3199	HOXA2	OMIM:612290
HP:0000006	Autosomal dominant inheritance	51305	KCNK9	OMIM:612292
HP:0000006	Autosomal dominant inheritance	54870	QRICH1	OMIM:617982
HP:0000006	Autosomal dominant inheritance	23509	POFUT1	OMIM:615327
HP:0000006	Autosomal dominant inheritance	5296	PIK3R2	OMIM:603387
HP:0000006	Autosomal dominant inheritance	6497	SKI	OMIM:182212
HP:0000006	Autosomal dominant inheritance	55023	PHIP	OMIM:617991
HP:0000006	Autosomal dominant inheritance	6915	TBXA2R	OMIM:614009
HP:0000006	Autosomal dominant inheritance	103	ADAR	OMIM:127400
HP:0000006	Autosomal dominant inheritance	136371	ASB10	OMIM:603383
HP:0000006	Autosomal dominant inheritance	5307	PITX1	OMIM:119800
HP:0000006	Autosomal dominant inheritance	4093	SMAD9	OMIM:615342
HP:0000006	Autosomal dominant inheritance	3777	KCNK3	OMIM:615344
HP:0000006	Autosomal dominant inheritance	6688	SPI1	OMIM:619707
HP:0000006	Autosomal dominant inheritance	8328	GFI1B	OMIM:187900
HP:0000007	Autosomal recessive inheritance	64170	CARD9	OMIM:212050
HP:0000007	Autosomal recessive inheritance	1145	CHRNE	OMIM:608931
HP:0000007	Autosomal recessive inheritance	1145	CHRNE	OMIM:605809
HP:0000007	Autosomal recessive inheritance	1145	CHRNE	OMIM:616324
HP:0000007	Autosomal recessive inheritance	2673	GFPT1	OMIM:608931
HP:0000007	Autosomal recessive inheritance	2673	GFPT1	OMIM:610542
HP:0000007	Autosomal recessive inheritance	51256	TBC1D7	OMIM:248000
HP:0000007	Autosomal recessive inheritance	28981	IFT81	OMIM:617895
HP:0000007	Autosomal recessive inheritance	5949	RBP3	OMIM:615233
HP:0000007	Autosomal recessive inheritance	5949	RBP3	OMIM:268000
HP:0000007	Autosomal recessive inheritance	583	BBS2	OMIM:616562
HP:0000007	Autosomal recessive inheritance	583	BBS2	OMIM:615981
HP:0000007	Autosomal recessive inheritance	51569	UFM1	OMIM:617899
HP:0000007	Autosomal recessive inheritance	79827	CLMP	OMIM:615237
HP:0000007	Autosomal recessive inheritance	134701	RIPPLY2	OMIM:616566
HP:0000007	Autosomal recessive inheritance	7299	TYR	OMIM:203100
HP:0000007	Autosomal recessive inheritance	7299	TYR	OMIM:606952
HP:0000007	Autosomal recessive inheritance	63924	CIDEC	OMIM:615238
HP:0000007	Autosomal recessive inheritance	6890	TAP1	OMIM:604571
HP:0000007	Autosomal recessive inheritance	7068	THRB	OMIM:274300
HP:0000007	Autosomal recessive inheritance	1134	CHRNA1	OMIM:608930
HP:0000007	Autosomal recessive inheritance	1134	CHRNA1	OMIM:253290
HP:0000007	Autosomal recessive inheritance	51099	ABHD5	OMIM:275630
HP:0000007	Autosomal recessive inheritance	2731	GLDC	OMIM:605899
HP:0000007	Autosomal recessive inheritance	54714	CNGB3	OMIM:262300
HP:0000007	Autosomal recessive inheritance	2073	ERCC5	OMIM:616570
HP:0000007	Autosomal recessive inheritance	2073	ERCC5	OMIM:278780
HP:0000007	Autosomal recessive inheritance	396	ARHGDIA	OMIM:615244
HP:0000007	Autosomal recessive inheritance	166378	AFG2A	OMIM:616577
HP:0000007	Autosomal recessive inheritance	146845	CFAP52	OMIM:619607
HP:0000007	Autosomal recessive inheritance	25790	CFAP45	OMIM:619608
HP:0000007	Autosomal recessive inheritance	477	ATP1A2	OMIM:619602
HP:0000007	Autosomal recessive inheritance	84197	POMK	OMIM:615249
HP:0000007	Autosomal recessive inheritance	84197	POMK	OMIM:616094
HP:0000007	Autosomal recessive inheritance	84520	GON7	OMIM:619603
HP:0000007	Autosomal recessive inheritance	81846	SBF2	OMIM:604563
HP:0000007	Autosomal recessive inheritance	1161	ERCC8	OMIM:216400
HP:0000007	Autosomal recessive inheritance	1161	ERCC8	OMIM:614621
HP:0000007	Autosomal recessive inheritance	79693	YRDC	OMIM:619609
HP:0000007	Autosomal recessive inheritance	1369	CPN1	OMIM:212070
HP:0000007	Autosomal recessive inheritance	5832	ALDH18A1	OMIM:616586
HP:0000007	Autosomal recessive inheritance	5832	ALDH18A1	OMIM:219150
HP:0000007	Autosomal recessive inheritance	79029	AFG2B	OMIM:619616
HP:0000007	Autosomal recessive inheritance	79029	AFG2B	OMIM:619615
HP:0000007	Autosomal recessive inheritance	51308	REEP2	OMIM:620606
HP:0000007	Autosomal recessive inheritance	51308	REEP2	OMIM:615625
HP:0000007	Autosomal recessive inheritance	6573	SLC19A1	OMIM:620603
HP:0000007	Autosomal recessive inheritance	6573	SLC19A1	OMIM:601775
HP:0000007	Autosomal recessive inheritance	7436	VLDLR	OMIM:224050
HP:0000007	Autosomal recessive inheritance	54543	TOMM7	OMIM:620601
HP:0000007	Autosomal recessive inheritance	80201	HKDC1	OMIM:619614
HP:0000007	Autosomal recessive inheritance	5191	PEX7	OMIM:215100
HP:0000007	Autosomal recessive inheritance	5191	PEX7	OMIM:266500
HP:0000007	Autosomal recessive inheritance	5191	PEX7	OMIM:614879
HP:0000007	Autosomal recessive inheritance	200942	KLHDC8B	OMIM:236000
HP:0000007	Autosomal recessive inheritance	1565	CYP2D6	OMIM:608902
HP:0000007	Autosomal recessive inheritance	5297	PI4KA	OMIM:619621
HP:0000007	Autosomal recessive inheritance	5297	PI4KA	OMIM:616531
HP:0000007	Autosomal recessive inheritance	5297	PI4KA	OMIM:619708
HP:0000007	Autosomal recessive inheritance	54756	IL17RD	OMIM:615267
HP:0000007	Autosomal recessive inheritance	51761	ATP8A2	OMIM:615268
HP:0000007	Autosomal recessive inheritance	51702	PADI3	OMIM:191480
HP:0000007	Autosomal recessive inheritance	4247	MGAT2	OMIM:212066
HP:0000007	Autosomal recessive inheritance	5373	PMM2	OMIM:212065
HP:0000007	Autosomal recessive inheritance	5337	PLD1	OMIM:212093
HP:0000007	Autosomal recessive inheritance	5317	PKP1	OMIM:604536
HP:0000007	Autosomal recessive inheritance	167691	LCA5	OMIM:604537
HP:0000007	Autosomal recessive inheritance	2072	ERCC4	OMIM:615272
HP:0000007	Autosomal recessive inheritance	2072	ERCC4	OMIM:610965
HP:0000007	Autosomal recessive inheritance	2072	ERCC4	OMIM:278760
HP:0000007	Autosomal recessive inheritance	30009	TBX21	OMIM:619630
HP:0000007	Autosomal recessive inheritance	30009	TBX21	OMIM:208550
HP:0000007	Autosomal recessive inheritance	55768	NGLY1	OMIM:615273
HP:0000007	Autosomal recessive inheritance	1770	DNAH9	OMIM:618300
HP:0000007	Autosomal recessive inheritance	29775	CARD10	OMIM:619632
HP:0000007	Autosomal recessive inheritance	55621	TRMT1	OMIM:618302
HP:0000007	Autosomal recessive inheritance	6905	TBCE	OMIM:241410
HP:0000007	Autosomal recessive inheritance	6905	TBCE	OMIM:244460
HP:0000007	Autosomal recessive inheritance	6905	TBCE	OMIM:617207
HP:0000007	Autosomal recessive inheritance	3982	LIM2	OMIM:615277
HP:0000007	Autosomal recessive inheritance	5593	PRKG2	OMIM:619638
HP:0000007	Autosomal recessive inheritance	5593	PRKG2	OMIM:619636
HP:0000007	Autosomal recessive inheritance	399	RHOH	OMIM:618307
HP:0000007	Autosomal recessive inheritance	9354	UBE4A	OMIM:619639
HP:0000007	Autosomal recessive inheritance	3574	IL7	OMIM:618309
HP:0000007	Autosomal recessive inheritance	55823	VPS11	OMIM:619637
HP:0000007	Autosomal recessive inheritance	55823	VPS11	OMIM:616683
HP:0000007	Autosomal recessive inheritance	6606	SMN1	OMIM:253400
HP:0000007	Autosomal recessive inheritance	6606	SMN1	OMIM:253300
HP:0000007	Autosomal recessive inheritance	6606	SMN1	OMIM:271150
HP:0000007	Autosomal recessive inheritance	6606	SMN1	OMIM:253550
HP:0000007	Autosomal recessive inheritance	6607	SMN2	OMIM:253400
HP:0000007	Autosomal recessive inheritance	3507	IGHM	OMIM:601495
HP:0000007	Autosomal recessive inheritance	54828	BCAS3	OMIM:619641
HP:0000007	Autosomal recessive inheritance	6305	SBF1	OMIM:615284
HP:0000007	Autosomal recessive inheritance	1615	DARS1	OMIM:615281
HP:0000007	Autosomal recessive inheritance	431705	ASTL	OMIM:619643
HP:0000007	Autosomal recessive inheritance	57169	ZNFX1	OMIM:619644
HP:0000007	Autosomal recessive inheritance	11041	B4GAT1	OMIM:615287
HP:0000007	Autosomal recessive inheritance	11311	VPS45	OMIM:615285
HP:0000007	Autosomal recessive inheritance	51102	MECR	OMIM:620629
HP:0000007	Autosomal recessive inheritance	51102	MECR	OMIM:617282
HP:0000007	Autosomal recessive inheritance	113179	ADAT3	OMIM:615286
HP:0000007	Autosomal recessive inheritance	23187	PHLDB1	OMIM:620639
HP:0000007	Autosomal recessive inheritance	145645	TERB2	OMIM:619645
HP:0000007	Autosomal recessive inheritance	2314	FLII	OMIM:620635
HP:0000007	Autosomal recessive inheritance	283847	TERB1	OMIM:619646
HP:0000007	Autosomal recessive inheritance	55072	RNF31	OMIM:620632
HP:0000007	Autosomal recessive inheritance	111	ADCY5	OMIM:619647
HP:0000007	Autosomal recessive inheritance	111	ADCY5	OMIM:619651
HP:0000007	Autosomal recessive inheritance	9772	TMEM94	OMIM:618316
HP:0000007	Autosomal recessive inheritance	79971	WLS	OMIM:619648
HP:0000007	Autosomal recessive inheritance	57462	MYORG	OMIM:618317
HP:0000007	Autosomal recessive inheritance	29958	DMGDH	OMIM:605850
HP:0000007	Autosomal recessive inheritance	56652	TWNK	OMIM:271245
HP:0000007	Autosomal recessive inheritance	56652	TWNK	OMIM:607459
HP:0000007	Autosomal recessive inheritance	56652	TWNK	OMIM:616138
HP:0000007	Autosomal recessive inheritance	3373	HYAL1	OMIM:601492
HP:0000007	Autosomal recessive inheritance	3930	LBR	OMIM:215140
HP:0000007	Autosomal recessive inheritance	3930	LBR	OMIM:618019
HP:0000007	Autosomal recessive inheritance	1491	CTH	OMIM:219500
HP:0000007	Autosomal recessive inheritance	92749	DRC1	OMIM:615294
HP:0000007	Autosomal recessive inheritance	92749	DRC1	OMIM:620222
HP:0000007	Autosomal recessive inheritance	55739	NAXD	OMIM:618321
HP:0000007	Autosomal recessive inheritance	5966	REL	OMIM:619652
HP:0000007	Autosomal recessive inheritance	7143	TNR	OMIM:619653
HP:0000007	Autosomal recessive inheritance	6843	VAMP1	OMIM:618323
HP:0000007	Autosomal recessive inheritance	197258	FCSK	OMIM:618324
HP:0000007	Autosomal recessive inheritance	2694	CBLIF	OMIM:261000
HP:0000007	Autosomal recessive inheritance	285203	EOGT	OMIM:615297
HP:0000007	Autosomal recessive inheritance	125988	MICOS13	OMIM:618329
HP:0000007	Autosomal recessive inheritance	84168	ANTXR1	OMIM:230740
HP:0000007	Autosomal recessive inheritance	6240	RRM1	OMIM:620647
HP:0000007	Autosomal recessive inheritance	54148	MRPL39	OMIM:620646
HP:0000007	Autosomal recessive inheritance	4087	SMAD2	OMIM:619657
HP:0000007	Autosomal recessive inheritance	54532	USP53	OMIM:619658
HP:0000007	Autosomal recessive inheritance	2744	GLS	OMIM:618328
HP:0000007	Autosomal recessive inheritance	2744	GLS	OMIM:618412
HP:0000007	Autosomal recessive inheritance	4733	DRG1	OMIM:620641
HP:0000007	Autosomal recessive inheritance	79645	CLXN	OMIM:620642
HP:0000007	Autosomal recessive inheritance	84100	ARL6	OMIM:600151
HP:0000007	Autosomal recessive inheritance	84100	ARL6	OMIM:268000
HP:0000007	Autosomal recessive inheritance	84100	ARL6	OMIM:209900
HP:0000007	Autosomal recessive inheritance	84100	ARL6	OMIM:613575
HP:0000007	Autosomal recessive inheritance	5654	HTRA1	OMIM:600142
HP:0000007	Autosomal recessive inheritance	2055	CLN8	OMIM:600143
HP:0000007	Autosomal recessive inheritance	2055	CLN8	OMIM:610003
HP:0000007	Autosomal recessive inheritance	23514	SPIDR	OMIM:619665
HP:0000007	Autosomal recessive inheritance	54101	RIPK4	OMIM:263650
HP:0000007	Autosomal recessive inheritance	54101	RIPK4	OMIM:214350
HP:0000007	Autosomal recessive inheritance	51693	TRAPPC2L	OMIM:618331
HP:0000007	Autosomal recessive inheritance	113220	KIF12	OMIM:619662
HP:0000007	Autosomal recessive inheritance	120	ADD3	OMIM:617008
HP:0000007	Autosomal recessive inheritance	7535	ZAP70	OMIM:617006
HP:0000007	Autosomal recessive inheritance	7535	ZAP70	OMIM:269840
HP:0000007	Autosomal recessive inheritance	5426	POLE	OMIM:618336
HP:0000007	Autosomal recessive inheritance	5426	POLE	OMIM:615139
HP:0000007	Autosomal recessive inheritance	5910	RAP1GDS1	OMIM:620655
HP:0000007	Autosomal recessive inheritance	835	CASP2	OMIM:620653
HP:0000007	Autosomal recessive inheritance	7873	MANF	OMIM:620651
HP:0000007	Autosomal recessive inheritance	7273	TTN	OMIM:611705
HP:0000007	Autosomal recessive inheritance	7273	TTN	OMIM:608807
HP:0000007	Autosomal recessive inheritance	64132	XYLT2	OMIM:605822
HP:0000007	Autosomal recessive inheritance	64132	XYLT2	OMIM:264800
HP:0000007	Autosomal recessive inheritance	2074	ERCC6	OMIM:133540
HP:0000007	Autosomal recessive inheritance	2074	ERCC6	OMIM:278800
HP:0000007	Autosomal recessive inheritance	2074	ERCC6	OMIM:600630
HP:0000007	Autosomal recessive inheritance	2074	ERCC6	OMIM:214150
HP:0000007	Autosomal recessive inheritance	7287	TULP1	OMIM:600132
HP:0000007	Autosomal recessive inheritance	7287	TULP1	OMIM:613843
HP:0000007	Autosomal recessive inheritance	10020	GNE	OMIM:605820
HP:0000007	Autosomal recessive inheritance	10020	GNE	OMIM:620757
HP:0000007	Autosomal recessive inheritance	6448	SGSH	OMIM:252900
HP:0000007	Autosomal recessive inheritance	8925	HERC1	OMIM:617011
HP:0000007	Autosomal recessive inheritance	1281	COL3A1	OMIM:618343
HP:0000007	Autosomal recessive inheritance	196	AHR	OMIM:618345
HP:0000007	Autosomal recessive inheritance	10785	WDR4	OMIM:618346
HP:0000007	Autosomal recessive inheritance	10785	WDR4	OMIM:618347
HP:0000007	Autosomal recessive inheritance	1441	CSF3R	OMIM:617014
HP:0000007	Autosomal recessive inheritance	23516	SLC39A14	OMIM:617013
HP:0000007	Autosomal recessive inheritance	84074	QRICH2	OMIM:618341
HP:0000007	Autosomal recessive inheritance	10734	STAG3	OMIM:619672
HP:0000007	Autosomal recessive inheritance	10734	STAG3	OMIM:615723
HP:0000007	Autosomal recessive inheritance	285498	RNF212	OMIM:619673
HP:0000007	Autosomal recessive inheritance	54517	PUS7	OMIM:618342
HP:0000007	Autosomal recessive inheritance	10564	ARFGEF2	OMIM:608097
HP:0000007	Autosomal recessive inheritance	4311	MME	OMIM:617017
HP:0000007	Autosomal recessive inheritance	5396	PRRX1	OMIM:202650
HP:0000007	Autosomal recessive inheritance	1798	DPAGT1	OMIM:608093
HP:0000007	Autosomal recessive inheritance	1798	DPAGT1	OMIM:614750
HP:0000007	Autosomal recessive inheritance	57122	NUP107	OMIM:618348
HP:0000007	Autosomal recessive inheritance	57122	NUP107	OMIM:618078
HP:0000007	Autosomal recessive inheritance	57122	NUP107	OMIM:616730
HP:0000007	Autosomal recessive inheritance	55746	NUP133	OMIM:618349
HP:0000007	Autosomal recessive inheritance	55746	NUP133	OMIM:618177
HP:0000007	Autosomal recessive inheritance	51259	TMEM216	OMIM:608091
HP:0000007	Autosomal recessive inheritance	51259	TMEM216	OMIM:603194
HP:0000007	Autosomal recessive inheritance	51117	COQ4	OMIM:620666
HP:0000007	Autosomal recessive inheritance	51117	COQ4	OMIM:616276
HP:0000007	Autosomal recessive inheritance	56623	INPP5E	OMIM:213300
HP:0000007	Autosomal recessive inheritance	56623	INPP5E	OMIM:610156
HP:0000007	Autosomal recessive inheritance	90459	ERI1	OMIM:620663
HP:0000007	Autosomal recessive inheritance	90459	ERI1	OMIM:620662
HP:0000007	Autosomal recessive inheritance	4023	LPL	OMIM:238600
HP:0000007	Autosomal recessive inheritance	1950	EGF	OMIM:611718
HP:0000007	Autosomal recessive inheritance	6442	SGCA	OMIM:608099
HP:0000007	Autosomal recessive inheritance	56945	MRPS22	OMIM:611719
HP:0000007	Autosomal recessive inheritance	56945	MRPS22	OMIM:618117
HP:0000007	Autosomal recessive inheritance	10165	SLC25A13	OMIM:605814
HP:0000007	Autosomal recessive inheritance	10165	SLC25A13	OMIM:603471
HP:0000007	Autosomal recessive inheritance	55315	SLC29A3	OMIM:602782
HP:0000007	Autosomal recessive inheritance	8540	AGPS	OMIM:600121
HP:0000007	Autosomal recessive inheritance	5896	RAG1	OMIM:601457
HP:0000007	Autosomal recessive inheritance	5896	RAG1	OMIM:233650
HP:0000007	Autosomal recessive inheritance	5896	RAG1	OMIM:603554
HP:0000007	Autosomal recessive inheritance	5897	RAG2	OMIM:601457
HP:0000007	Autosomal recessive inheritance	5897	RAG2	OMIM:233650
HP:0000007	Autosomal recessive inheritance	5897	RAG2	OMIM:603554
HP:0000007	Autosomal recessive inheritance	10397	NDRG1	OMIM:601455
HP:0000007	Autosomal recessive inheritance	55610	VPS50	OMIM:619685
HP:0000007	Autosomal recessive inheritance	91754	NEK9	OMIM:617022
HP:0000007	Autosomal recessive inheritance	91754	NEK9	OMIM:614262
HP:0000007	Autosomal recessive inheritance	1294	COL7A1	OMIM:226600
HP:0000007	Autosomal recessive inheritance	1294	COL7A1	OMIM:131850
HP:0000007	Autosomal recessive inheritance	1294	COL7A1	OMIM:131705
HP:0000007	Autosomal recessive inheritance	1294	COL7A1	OMIM:604129
HP:0000007	Autosomal recessive inheritance	81790	RNF170	OMIM:619686
HP:0000007	Autosomal recessive inheritance	23395	LARS2	OMIM:617021
HP:0000007	Autosomal recessive inheritance	23395	LARS2	OMIM:615300
HP:0000007	Autosomal recessive inheritance	23114	NFASC	OMIM:618356
HP:0000007	Autosomal recessive inheritance	64801	ARV1	OMIM:617020
HP:0000007	Autosomal recessive inheritance	55182	RNF220	OMIM:619688
HP:0000007	Autosomal recessive inheritance	116461	TSEN15	OMIM:617026
HP:0000007	Autosomal recessive inheritance	55262	TRAPPC14	OMIM:618351
HP:0000007	Autosomal recessive inheritance	2784	GNB3	OMIM:617024
HP:0000007	Autosomal recessive inheritance	7783	ZP2	OMIM:618353
HP:0000007	Autosomal recessive inheritance	60509	AGBL5	OMIM:617023
HP:0000007	Autosomal recessive inheritance	23043	TNIK	OMIM:617028
HP:0000007	Autosomal recessive inheritance	140801	RPL10L	OMIM:619689
HP:0000007	Autosomal recessive inheritance	11190	CEP250	OMIM:618358
HP:0000007	Autosomal recessive inheritance	5660	PSAP	OMIM:611721
HP:0000007	Autosomal recessive inheritance	5660	PSAP	OMIM:611722
HP:0000007	Autosomal recessive inheritance	5660	PSAP	OMIM:249900
HP:0000007	Autosomal recessive inheritance	5660	PSAP	OMIM:610539
HP:0000007	Autosomal recessive inheritance	25885	POLR1A	OMIM:620675
HP:0000007	Autosomal recessive inheritance	154881	KCTD7	OMIM:611726
HP:0000007	Autosomal recessive inheritance	346007	EYS	OMIM:602772
HP:0000007	Autosomal recessive inheritance	5934	RBL2	OMIM:619690
HP:0000007	Autosomal recessive inheritance	57190	SELENON	OMIM:602771
HP:0000007	Autosomal recessive inheritance	79709	COLGALT1	OMIM:618360
HP:0000007	Autosomal recessive inheritance	16	AARS1	OMIM:619691
HP:0000007	Autosomal recessive inheritance	16	AARS1	OMIM:616339
HP:0000007	Autosomal recessive inheritance	5071	PRKN	OMIM:600116
HP:0000007	Autosomal recessive inheritance	7480	WNT10B	OMIM:225300
HP:0000007	Autosomal recessive inheritance	286151	FBXO43	OMIM:619696
HP:0000007	Autosomal recessive inheritance	286151	FBXO43	OMIM:619697
HP:0000007	Autosomal recessive inheritance	153642	ARSK	OMIM:619698
HP:0000007	Autosomal recessive inheritance	10588	MTHFS	OMIM:618367
HP:0000007	Autosomal recessive inheritance	22930	RAB3GAP1	OMIM:600118
HP:0000007	Autosomal recessive inheritance	22930	RAB3GAP1	OMIM:619420
HP:0000007	Autosomal recessive inheritance	51434	ANAPC7	OMIM:619699
HP:0000007	Autosomal recessive inheritance	122622	ADSS1	OMIM:617030
HP:0000007	Autosomal recessive inheritance	4141	MARS1	OMIM:619692
HP:0000007	Autosomal recessive inheritance	4141	MARS1	OMIM:620323
HP:0000007	Autosomal recessive inheritance	4141	MARS1	OMIM:615486
HP:0000007	Autosomal recessive inheritance	7922	SLC39A7	OMIM:619693
HP:0000007	Autosomal recessive inheritance	84068	SLC10A7	OMIM:618363
HP:0000007	Autosomal recessive inheritance	3643	INSR	OMIM:246200
HP:0000007	Autosomal recessive inheritance	3643	INSR	OMIM:262190
HP:0000007	Autosomal recessive inheritance	6718	AKR1D1	OMIM:235555
HP:0000007	Autosomal recessive inheritance	54834	GDAP2	OMIM:618369
HP:0000007	Autosomal recessive inheritance	55107	ANO1	OMIM:620687
HP:0000007	Autosomal recessive inheritance	55107	ANO1	OMIM:620045
HP:0000007	Autosomal recessive inheritance	4625	MYH7	OMIM:255160
HP:0000007	Autosomal recessive inheritance	3431	SP110	OMIM:235550
HP:0000007	Autosomal recessive inheritance	254528	MEIOB	OMIM:620686
HP:0000007	Autosomal recessive inheritance	254528	MEIOB	OMIM:617706
HP:0000007	Autosomal recessive inheritance	11145	PLAAT3	OMIM:620683
HP:0000007	Autosomal recessive inheritance	4647	MYO7A	OMIM:276900
HP:0000007	Autosomal recessive inheritance	4647	MYO7A	OMIM:600060
HP:0000007	Autosomal recessive inheritance	10083	USH1C	OMIM:276900
HP:0000007	Autosomal recessive inheritance	10083	USH1C	OMIM:276904
HP:0000007	Autosomal recessive inheritance	10083	USH1C	OMIM:602092
HP:0000007	Autosomal recessive inheritance	378884	NHLRC1	OMIM:620681
HP:0000007	Autosomal recessive inheritance	5130	PCYT1A	OMIM:620680
HP:0000007	Autosomal recessive inheritance	5130	PCYT1A	OMIM:608940
HP:0000007	Autosomal recessive inheritance	7399	USH2A	OMIM:276901
HP:0000007	Autosomal recessive inheritance	7399	USH2A	OMIM:613809
HP:0000007	Autosomal recessive inheritance	79955	PDZD7	OMIM:276901
HP:0000007	Autosomal recessive inheritance	79955	PDZD7	OMIM:618003
HP:0000007	Autosomal recessive inheritance	79955	PDZD7	OMIM:605472
HP:0000007	Autosomal recessive inheritance	23418	CRB1	OMIM:600105
HP:0000007	Autosomal recessive inheritance	23418	CRB1	OMIM:613835
HP:0000007	Autosomal recessive inheritance	7401	CLRN1	OMIM:276902
HP:0000007	Autosomal recessive inheritance	7401	CLRN1	OMIM:268000
HP:0000007	Autosomal recessive inheritance	7401	CLRN1	OMIM:614180
HP:0000007	Autosomal recessive inheritance	7086	TKT	OMIM:617044
HP:0000007	Autosomal recessive inheritance	63931	MRPS14	OMIM:618378
HP:0000007	Autosomal recessive inheritance	5321	PLA2G4A	OMIM:618372
HP:0000007	Autosomal recessive inheritance	23328	SASH1	OMIM:618373
HP:0000007	Autosomal recessive inheritance	10667	FARS2	OMIM:617046
HP:0000007	Autosomal recessive inheritance	10667	FARS2	OMIM:614946
HP:0000007	Autosomal recessive inheritance	9971	NR1H4	OMIM:617049
HP:0000007	Autosomal recessive inheritance	594	BCKDHB	OMIM:620698
HP:0000007	Autosomal recessive inheritance	2065	ERBB3	OMIM:243180
HP:0000007	Autosomal recessive inheritance	2065	ERBB3	OMIM:607598
HP:0000007	Autosomal recessive inheritance	1629	DBT	OMIM:620699
HP:0000007	Autosomal recessive inheritance	9294	S1PR2	OMIM:610419
HP:0000007	Autosomal recessive inheritance	3674	ITGA2B	OMIM:273800
HP:0000007	Autosomal recessive inheritance	83480	PUS3	OMIM:617051
HP:0000007	Autosomal recessive inheritance	8943	AP3D1	OMIM:617050
HP:0000007	Autosomal recessive inheritance	83959	SLC4A11	OMIM:217700
HP:0000007	Autosomal recessive inheritance	83959	SLC4A11	OMIM:217400
HP:0000007	Autosomal recessive inheritance	65260	COA7	OMIM:618387
HP:0000007	Autosomal recessive inheritance	55975	KLHL7	OMIM:617055
HP:0000007	Autosomal recessive inheritance	55697	VAC14	OMIM:617054
HP:0000007	Autosomal recessive inheritance	5913	RAPSN	OMIM:618388
HP:0000007	Autosomal recessive inheritance	5913	RAPSN	OMIM:616326
HP:0000007	Autosomal recessive inheritance	1053	CEBPE	OMIM:260570
HP:0000007	Autosomal recessive inheritance	1053	CEBPE	OMIM:245480
HP:0000007	Autosomal recessive inheritance	285489	DOK7	OMIM:618389
HP:0000007	Autosomal recessive inheritance	285489	DOK7	OMIM:254300
HP:0000007	Autosomal recessive inheritance	134218	DNAJC21	OMIM:617052
HP:0000007	Autosomal recessive inheritance	134218	DNAJC21	OMIM:260400
HP:0000007	Autosomal recessive inheritance	3914	LAMB3	OMIM:226650
HP:0000007	Autosomal recessive inheritance	3914	LAMB3	OMIM:226700
HP:0000007	Autosomal recessive inheritance	27107	ZBTB11	OMIM:618383
HP:0000007	Autosomal recessive inheritance	64849	SLC13A3	OMIM:618384
HP:0000007	Autosomal recessive inheritance	1278	COL1A2	OMIM:225320
HP:0000007	Autosomal recessive inheritance	84957	RELT	OMIM:618386
HP:0000007	Autosomal recessive inheritance	80184	CEP290	OMIM:611755
HP:0000007	Autosomal recessive inheritance	80184	CEP290	OMIM:615991
HP:0000007	Autosomal recessive inheritance	80184	CEP290	OMIM:610188
HP:0000007	Autosomal recessive inheritance	80184	CEP290	OMIM:610189
HP:0000007	Autosomal recessive inheritance	80184	CEP290	OMIM:611134
HP:0000007	Autosomal recessive inheritance	57010	CABP4	OMIM:610427
HP:0000007	Autosomal recessive inheritance	162417	NAGS	OMIM:237310
HP:0000007	Autosomal recessive inheritance	8720	MBTPS1	OMIM:618392
HP:0000007	Autosomal recessive inheritance	4927	NUP88	OMIM:618393
HP:0000007	Autosomal recessive inheritance	9325	TRIP4	OMIM:617066
HP:0000007	Autosomal recessive inheritance	9325	TRIP4	OMIM:616866
HP:0000007	Autosomal recessive inheritance	84868	HAVCR2	OMIM:618398
HP:0000007	Autosomal recessive inheritance	60558	GUF1	OMIM:617065
HP:0000007	Autosomal recessive inheritance	8318	CDC45	OMIM:617063
HP:0000007	Autosomal recessive inheritance	9326	ZNHIT3	OMIM:260565
HP:0000007	Autosomal recessive inheritance	23233	EXOC6B	OMIM:618395
HP:0000007	Autosomal recessive inheritance	7084	TK2	OMIM:617069
HP:0000007	Autosomal recessive inheritance	7084	TK2	OMIM:609560
HP:0000007	Autosomal recessive inheritance	1674	DES	OMIM:601419
HP:0000007	Autosomal recessive inheritance	1716	DGUOK	OMIM:617068
HP:0000007	Autosomal recessive inheritance	1716	DGUOK	OMIM:617070
HP:0000007	Autosomal recessive inheritance	1716	DGUOK	OMIM:251880
HP:0000007	Autosomal recessive inheritance	84340	GFM2	OMIM:618397
HP:0000007	Autosomal recessive inheritance	2799	GNS	OMIM:252940
HP:0000007	Autosomal recessive inheritance	26092	TOR1AIP1	OMIM:617072
HP:0000007	Autosomal recessive inheritance	2203	FBP1	OMIM:229700
HP:0000007	Autosomal recessive inheritance	5339	PLEC	OMIM:226670
HP:0000007	Autosomal recessive inheritance	5339	PLEC	OMIM:612138
HP:0000007	Autosomal recessive inheritance	5339	PLEC	OMIM:616487
HP:0000007	Autosomal recessive inheritance	5339	PLEC	OMIM:226730
HP:0000007	Autosomal recessive inheritance	5339	PLEC	OMIM:613723
HP:0000007	Autosomal recessive inheritance	51594	NBAS	OMIM:614800
HP:0000007	Autosomal recessive inheritance	51594	NBAS	OMIM:616483
HP:0000007	Autosomal recessive inheritance	54187	NANS	OMIM:610442
HP:0000007	Autosomal recessive inheritance	138050	HGSNAT	OMIM:252930
HP:0000007	Autosomal recessive inheritance	138050	HGSNAT	OMIM:616544
HP:0000007	Autosomal recessive inheritance	50617	ATP6V0A4	OMIM:602722
HP:0000007	Autosomal recessive inheritance	116150	NUS1	OMIM:617082
HP:0000007	Autosomal recessive inheritance	51626	DYNC2LI1	OMIM:617088
HP:0000007	Autosomal recessive inheritance	9927	MFN2	OMIM:617087
HP:0000007	Autosomal recessive inheritance	56947	MFF	OMIM:617086
HP:0000007	Autosomal recessive inheritance	1291	COL6A1	OMIM:158810
HP:0000007	Autosomal recessive inheritance	1291	COL6A1	OMIM:254090
HP:0000007	Autosomal recessive inheritance	4137	MAPT	OMIM:260540
HP:0000007	Autosomal recessive inheritance	54809	SAMD9	OMIM:610455
HP:0000007	Autosomal recessive inheritance	26123	TCTN3	OMIM:614815
HP:0000007	Autosomal recessive inheritance	26123	TCTN3	OMIM:258860
HP:0000007	Autosomal recessive inheritance	27445	PCLO	OMIM:608027
HP:0000007	Autosomal recessive inheritance	1373	CPS1	OMIM:237300
HP:0000007	Autosomal recessive inheritance	4669	NAGLU	OMIM:252920
HP:0000007	Autosomal recessive inheritance	25886	POC1A	OMIM:614813
HP:0000007	Autosomal recessive inheritance	4053	LTBP2	OMIM:614819
HP:0000007	Autosomal recessive inheritance	4053	LTBP2	OMIM:600975
HP:0000007	Autosomal recessive inheritance	4053	LTBP2	OMIM:251750
HP:0000007	Autosomal recessive inheritance	4053	LTBP2	OMIM:613086
HP:0000007	Autosomal recessive inheritance	22909	FAN1	OMIM:614817
HP:0000007	Autosomal recessive inheritance	168667	BMPER	OMIM:608022
HP:0000007	Autosomal recessive inheritance	64374	SIL1	OMIM:248800
HP:0000007	Autosomal recessive inheritance	2643	GCH1	OMIM:128230
HP:0000007	Autosomal recessive inheritance	2643	GCH1	OMIM:233910
HP:0000007	Autosomal recessive inheritance	26128	KIFBP	OMIM:609460
HP:0000007	Autosomal recessive inheritance	80308	FLAD1	OMIM:255100
HP:0000007	Autosomal recessive inheritance	25821	MTO1	OMIM:614702
HP:0000007	Autosomal recessive inheritance	987	LRBA	OMIM:614700
HP:0000007	Autosomal recessive inheritance	2896	GRN	OMIM:614706
HP:0000007	Autosomal recessive inheritance	6094	ROM1	OMIM:608133
HP:0000007	Autosomal recessive inheritance	6094	ROM1	OMIM:268000
HP:0000007	Autosomal recessive inheritance	5961	PRPH2	OMIM:608133
HP:0000007	Autosomal recessive inheritance	5961	PRPH2	OMIM:136880
HP:0000007	Autosomal recessive inheritance	126792	B3GALT6	OMIM:609465
HP:0000007	Autosomal recessive inheritance	126792	B3GALT6	OMIM:271640
HP:0000007	Autosomal recessive inheritance	126792	B3GALT6	OMIM:615349
HP:0000007	Autosomal recessive inheritance	79581	SLC52A2	OMIM:614707
HP:0000007	Autosomal recessive inheritance	9401	RECQL4	OMIM:268400
HP:0000007	Autosomal recessive inheritance	9401	RECQL4	OMIM:218600
HP:0000007	Autosomal recessive inheritance	9401	RECQL4	OMIM:266280
HP:0000007	Autosomal recessive inheritance	89910	UBE3B	OMIM:244450
HP:0000007	Autosomal recessive inheritance	55788	LMBRD1	OMIM:277380
HP:0000007	Autosomal recessive inheritance	169522	KCNV2	OMIM:610356
HP:0000007	Autosomal recessive inheritance	54476	RNF216	OMIM:212840
HP:0000007	Autosomal recessive inheritance	547	KIF1A	OMIM:610357
HP:0000007	Autosomal recessive inheritance	547	KIF1A	OMIM:201300
HP:0000007	Autosomal recessive inheritance	547	KIF1A	OMIM:614213
HP:0000007	Autosomal recessive inheritance	84690	SPATA22	OMIM:621002
HP:0000007	Autosomal recessive inheritance	84690	SPATA22	OMIM:621001
HP:0000007	Autosomal recessive inheritance	771	CA12	OMIM:143860
HP:0000007	Autosomal recessive inheritance	25778	DSTYK	OMIM:270750
HP:0000007	Autosomal recessive inheritance	336	APOA2	OMIM:143890
HP:0000007	Autosomal recessive inheritance	2053	EPHX2	OMIM:143890
HP:0000007	Autosomal recessive inheritance	10842	PPP1R17	OMIM:143890
HP:0000007	Autosomal recessive inheritance	3949	LDLR	OMIM:143890
HP:0000007	Autosomal recessive inheritance	2690	GHR	OMIM:143890
HP:0000007	Autosomal recessive inheritance	2690	GHR	OMIM:262500
HP:0000007	Autosomal recessive inheritance	353	APRT	OMIM:614723
HP:0000007	Autosomal recessive inheritance	129607	CMPK2	OMIM:621018
HP:0000007	Autosomal recessive inheritance	8942	KYNU	OMIM:236800
HP:0000007	Autosomal recessive inheritance	8942	KYNU	OMIM:617661
HP:0000007	Autosomal recessive inheritance	55858	TMEM165	OMIM:614727
HP:0000007	Autosomal recessive inheritance	80254	CEP63	OMIM:614728
HP:0000007	Autosomal recessive inheritance	64087	MCCC2	OMIM:210210
HP:0000007	Autosomal recessive inheritance	658	BMPR1B	OMIM:609441
HP:0000007	Autosomal recessive inheritance	10518	CIB2	OMIM:609439
HP:0000007	Autosomal recessive inheritance	10518	CIB2	OMIM:614869
HP:0000007	Autosomal recessive inheritance	7374	UNG	OMIM:608106
HP:0000007	Autosomal recessive inheritance	50674	NEUROG3	OMIM:610370
HP:0000007	Autosomal recessive inheritance	1591	CYP24A1	OMIM:143880
HP:0000007	Autosomal recessive inheritance	11284	PNKP	OMIM:613402
HP:0000007	Autosomal recessive inheritance	11284	PNKP	OMIM:616267
HP:0000007	Autosomal recessive inheritance	11284	PNKP	OMIM:605589
HP:0000007	Autosomal recessive inheritance	4598	MVK	OMIM:610377
HP:0000007	Autosomal recessive inheritance	4598	MVK	OMIM:260920
HP:0000007	Autosomal recessive inheritance	56922	MCCC1	OMIM:210200
HP:0000007	Autosomal recessive inheritance	63894	VIPAS39	OMIM:613404
HP:0000007	Autosomal recessive inheritance	79053	ALG8	OMIM:608104
HP:0000007	Autosomal recessive inheritance	84947	SERAC1	OMIM:614739
HP:0000007	Autosomal recessive inheritance	57465	TBC1D24	OMIM:608105
HP:0000007	Autosomal recessive inheritance	57465	TBC1D24	OMIM:605021
HP:0000007	Autosomal recessive inheritance	57465	TBC1D24	OMIM:614617
HP:0000007	Autosomal recessive inheritance	57465	TBC1D24	OMIM:220500
HP:0000007	Autosomal recessive inheritance	57465	TBC1D24	OMIM:615338
HP:0000007	Autosomal recessive inheritance	23530	NNT	OMIM:614736
HP:0000007	Autosomal recessive inheritance	113278	SLC52A3	OMIM:211530
HP:0000007	Autosomal recessive inheritance	113278	SLC52A3	OMIM:211500
HP:0000007	Autosomal recessive inheritance	727857	BHLHA9	OMIM:609432
HP:0000007	Autosomal recessive inheritance	727857	BHLHA9	OMIM:607539
HP:0000007	Autosomal recessive inheritance	57217	TTC7A	OMIM:243150
HP:0000007	Autosomal recessive inheritance	51660	MPC1	OMIM:614741
HP:0000007	Autosomal recessive inheritance	6011	GRK1	OMIM:613411
HP:0000007	Autosomal recessive inheritance	3211	HOXB1	OMIM:614744
HP:0000007	Autosomal recessive inheritance	84720	PIGO	OMIM:614749
HP:0000007	Autosomal recessive inheritance	11128	POLR3A	OMIM:264090
HP:0000007	Autosomal recessive inheritance	11128	POLR3A	OMIM:607694
HP:0000007	Autosomal recessive inheritance	3675	ITGA3	OMIM:614748
HP:0000007	Autosomal recessive inheritance	80025	PANK2	OMIM:234200
HP:0000007	Autosomal recessive inheritance	23503	ZFYVE26	OMIM:270700
HP:0000007	Autosomal recessive inheritance	388939	PCARE	OMIM:613428
HP:0000007	Autosomal recessive inheritance	5241	PGR	OMIM:264080
HP:0000007	Autosomal recessive inheritance	5092	PCBD1	OMIM:264070
HP:0000007	Autosomal recessive inheritance	1374	CPT1A	OMIM:255120
HP:0000007	Autosomal recessive inheritance	10133	OPTN	OMIM:613435
HP:0000007	Autosomal recessive inheritance	6833	ABCC8	OMIM:256450
HP:0000007	Autosomal recessive inheritance	6833	ABCC8	OMIM:618857
HP:0000007	Autosomal recessive inheritance	3166	HMX1	OMIM:612109
HP:0000007	Autosomal recessive inheritance	147372	CCBE1	OMIM:235510
HP:0000007	Autosomal recessive inheritance	23479	ISCU	OMIM:255125
HP:0000007	Autosomal recessive inheritance	64241	ABCG8	OMIM:210250
HP:0000007	Autosomal recessive inheritance	65125	WNK1	OMIM:201300
HP:0000007	Autosomal recessive inheritance	54463	RETREG1	OMIM:201300
HP:0000007	Autosomal recessive inheritance	54463	RETREG1	OMIM:613115
HP:0000007	Autosomal recessive inheritance	6335	SCN9A	OMIM:201300
HP:0000007	Autosomal recessive inheritance	6335	SCN9A	OMIM:243000
HP:0000007	Autosomal recessive inheritance	9276	COPB2	OMIM:617800
HP:0000007	Autosomal recessive inheritance	1376	CPT2	OMIM:255110
HP:0000007	Autosomal recessive inheritance	1376	CPT2	OMIM:608836
HP:0000007	Autosomal recessive inheritance	1376	CPT2	OMIM:600649
HP:0000007	Autosomal recessive inheritance	1376	CPT2	OMIM:614212
HP:0000007	Autosomal recessive inheritance	220136	CFAP53	OMIM:614779
HP:0000007	Autosomal recessive inheritance	7407	VARS1	OMIM:617802
HP:0000007	Autosomal recessive inheritance	11181	TREH	OMIM:612119
HP:0000007	Autosomal recessive inheritance	3559	IL2RA	OMIM:606367
HP:0000007	Autosomal recessive inheritance	55703	POLR3B	OMIM:607694
HP:0000007	Autosomal recessive inheritance	55703	POLR3B	OMIM:614381
HP:0000007	Autosomal recessive inheritance	60529	ALX4	OMIM:613451
HP:0000007	Autosomal recessive inheritance	5269	SERPINB6	OMIM:613453
HP:0000007	Autosomal recessive inheritance	4688	NCF2	OMIM:233710
HP:0000007	Autosomal recessive inheritance	8733	GPAA1	OMIM:617810
HP:0000007	Autosomal recessive inheritance	8092	ALX1	OMIM:613456
HP:0000007	Autosomal recessive inheritance	57679	ALS2	OMIM:606353
HP:0000007	Autosomal recessive inheritance	57679	ALS2	OMIM:205100
HP:0000007	Autosomal recessive inheritance	57679	ALS2	OMIM:607225
HP:0000007	Autosomal recessive inheritance	5279	PIGC	OMIM:617816
HP:0000007	Autosomal recessive inheritance	5745	PTH1R	OMIM:215045
HP:0000007	Autosomal recessive inheritance	5745	PTH1R	OMIM:600002
HP:0000007	Autosomal recessive inheritance	27329	ANGPTL3	OMIM:605019
HP:0000007	Autosomal recessive inheritance	91147	TMEM67	OMIM:216360
HP:0000007	Autosomal recessive inheritance	91147	TMEM67	OMIM:615991
HP:0000007	Autosomal recessive inheritance	91147	TMEM67	OMIM:607361
HP:0000007	Autosomal recessive inheritance	91147	TMEM67	OMIM:602152
HP:0000007	Autosomal recessive inheritance	91147	TMEM67	OMIM:610688
HP:0000007	Autosomal recessive inheritance	91147	TMEM67	OMIM:613550
HP:0000007	Autosomal recessive inheritance	84162	BLTP1	OMIM:617822
HP:0000007	Autosomal recessive inheritance	123016	TTC8	OMIM:613464
HP:0000007	Autosomal recessive inheritance	123016	TTC8	OMIM:615985
HP:0000007	Autosomal recessive inheritance	1806	DPYD	OMIM:274270
HP:0000007	Autosomal recessive inheritance	2902	GRIN1	OMIM:617820
HP:0000007	Autosomal recessive inheritance	2902	GRIN1	OMIM:619814
HP:0000007	Autosomal recessive inheritance	10587	TXNRD2	OMIM:617825
HP:0000007	Autosomal recessive inheritance	54820	NDE1	OMIM:605013
HP:0000007	Autosomal recessive inheritance	54820	NDE1	OMIM:614019
HP:0000007	Autosomal recessive inheritance	51135	IRAK4	OMIM:607676
HP:0000007	Autosomal recessive inheritance	9837	GINS1	OMIM:617827
HP:0000007	Autosomal recessive inheritance	145873	MESP2	OMIM:277300
HP:0000007	Autosomal recessive inheritance	145873	MESP2	OMIM:608681
HP:0000007	Autosomal recessive inheritance	10683	DLL3	OMIM:277300
HP:0000007	Autosomal recessive inheritance	2733	GLE1	OMIM:253310
HP:0000007	Autosomal recessive inheritance	2733	GLE1	OMIM:611890
HP:0000007	Autosomal recessive inheritance	2821	GPI	OMIM:613470
HP:0000007	Autosomal recessive inheritance	128338	DRAM2	OMIM:616502
HP:0000007	Autosomal recessive inheritance	10560	SLC19A2	OMIM:249270
HP:0000007	Autosomal recessive inheritance	388753	COA6	OMIM:616501
HP:0000007	Autosomal recessive inheritance	493753	COA5	OMIM:616500
HP:0000007	Autosomal recessive inheritance	91137	SLC25A46	OMIM:616505
HP:0000007	Autosomal recessive inheritance	91137	SLC25A46	OMIM:619303
HP:0000007	Autosomal recessive inheritance	57211	ADGRG6	OMIM:616503
HP:0000007	Autosomal recessive inheritance	4047	LSS	OMIM:616509
HP:0000007	Autosomal recessive inheritance	4047	LSS	OMIM:618275
HP:0000007	Autosomal recessive inheritance	4047	LSS	OMIM:618840
HP:0000007	Autosomal recessive inheritance	6678	SPARC	OMIM:616507
HP:0000007	Autosomal recessive inheritance	3784	KCNQ1	OMIM:220400
HP:0000007	Autosomal recessive inheritance	4982	TNFRSF11B	OMIM:239000
HP:0000007	Autosomal recessive inheritance	2632	GBE1	OMIM:263570
HP:0000007	Autosomal recessive inheritance	2632	GBE1	OMIM:232500
HP:0000007	Autosomal recessive inheritance	11315	PARK7	OMIM:606324
HP:0000007	Autosomal recessive inheritance	4891	SLC11A2	OMIM:206100
HP:0000007	Autosomal recessive inheritance	22926	ATF6	OMIM:616517
HP:0000007	Autosomal recessive inheritance	4000	LMNA	OMIM:616516
HP:0000007	Autosomal recessive inheritance	4000	LMNA	OMIM:176670
HP:0000007	Autosomal recessive inheritance	4000	LMNA	OMIM:605588
HP:0000007	Autosomal recessive inheritance	4000	LMNA	OMIM:248370
HP:0000007	Autosomal recessive inheritance	25839	COG4	OMIM:613489
HP:0000007	Autosomal recessive inheritance	653361	NCF1	OMIM:233700
HP:0000007	Autosomal recessive inheritance	9750	RIPOR2	OMIM:616515
HP:0000007	Autosomal recessive inheritance	158326	FREM1	OMIM:608980
HP:0000007	Autosomal recessive inheritance	158326	FREM1	OMIM:248450
HP:0000007	Autosomal recessive inheritance	27019	DNAI1	OMIM:244400
HP:0000007	Autosomal recessive inheritance	5265	SERPINA1	OMIM:613490
HP:0000007	Autosomal recessive inheritance	930	CD19	OMIM:613493
HP:0000007	Autosomal recessive inheritance	930	CD19	OMIM:240500
HP:0000007	Autosomal recessive inheritance	26580	BSCL2	OMIM:269700
HP:0000007	Autosomal recessive inheritance	26580	BSCL2	OMIM:615924
HP:0000007	Autosomal recessive inheritance	931	MS4A1	OMIM:613495
HP:0000007	Autosomal recessive inheritance	115650	TNFRSF13C	OMIM:613494
HP:0000007	Autosomal recessive inheritance	115650	TNFRSF13C	OMIM:240500
HP:0000007	Autosomal recessive inheritance	975	CD81	OMIM:613496
HP:0000007	Autosomal recessive inheritance	131669	UROC1	OMIM:276880
HP:0000007	Autosomal recessive inheritance	3575	IL7R	OMIM:608971
HP:0000007	Autosomal recessive inheritance	8022	LHX3	OMIM:221750
HP:0000007	Autosomal recessive inheritance	122553	TRAPPC6B	OMIM:617862
HP:0000007	Autosomal recessive inheritance	112752	IFT43	OMIM:617866
HP:0000007	Autosomal recessive inheritance	112752	IFT43	OMIM:617871
HP:0000007	Autosomal recessive inheritance	112752	IFT43	OMIM:614099
HP:0000007	Autosomal recessive inheritance	50615	IL21R	OMIM:615207
HP:0000007	Autosomal recessive inheritance	57570	TRMT5	OMIM:616539
HP:0000007	Autosomal recessive inheritance	55612	FERMT1	OMIM:173650
HP:0000007	Autosomal recessive inheritance	1605	DAG1	OMIM:616538
HP:0000007	Autosomal recessive inheritance	1605	DAG1	OMIM:613818
HP:0000007	Autosomal recessive inheritance	84433	CARD11	OMIM:615206
HP:0000007	Autosomal recessive inheritance	9076	CLDN1	OMIM:607626
HP:0000007	Autosomal recessive inheritance	925	CD8A	OMIM:608957
HP:0000007	Autosomal recessive inheritance	10577	NPC2	OMIM:607625
HP:0000007	Autosomal recessive inheritance	5873	RAB27A	OMIM:607624
HP:0000007	Autosomal recessive inheritance	54802	TRIT1	OMIM:617873
HP:0000007	Autosomal recessive inheritance	7518	XRCC4	OMIM:616541
HP:0000007	Autosomal recessive inheritance	51081	MRPS7	OMIM:617872
HP:0000007	Autosomal recessive inheritance	84823	LMNB2	OMIM:616540
HP:0000007	Autosomal recessive inheritance	5295	PIK3R1	OMIM:615214
HP:0000007	Autosomal recessive inheritance	9786	KIAA0586	OMIM:616546
HP:0000007	Autosomal recessive inheritance	9786	KIAA0586	OMIM:616490
HP:0000007	Autosomal recessive inheritance	178	AGL	OMIM:232400
HP:0000007	Autosomal recessive inheritance	4724	NDUFS4	OMIM:252010
HP:0000007	Autosomal recessive inheritance	84700	MYO18B	OMIM:616549
HP:0000007	Autosomal recessive inheritance	8777	MPDZ	OMIM:615219
HP:0000007	Autosomal recessive inheritance	23533	PIK3R5	OMIM:615217
HP:0000007	Autosomal recessive inheritance	6389	SDHA	OMIM:252011
HP:0000007	Autosomal recessive inheritance	6389	SDHA	OMIM:613642
HP:0000007	Autosomal recessive inheritance	6609	SMPD1	OMIM:607616
HP:0000007	Autosomal recessive inheritance	6609	SMPD1	OMIM:257200
HP:0000007	Autosomal recessive inheritance	65057	ACD	OMIM:616553
HP:0000007	Autosomal recessive inheritance	672	BRCA1	OMIM:617883
HP:0000007	Autosomal recessive inheritance	7305	TYROBP	OMIM:221770
HP:0000007	Autosomal recessive inheritance	83452	RAB33B	OMIM:615222
HP:0000007	Autosomal recessive inheritance	7471	WNT1	OMIM:615220
HP:0000007	Autosomal recessive inheritance	80169	CTC1	OMIM:612199
HP:0000007	Autosomal recessive inheritance	7700	ZNF141	OMIM:615226
HP:0000007	Autosomal recessive inheritance	109	ADCY3	OMIM:617885
HP:0000007	Autosomal recessive inheritance	498	ATP5F1A	OMIM:615228
HP:0000007	Autosomal recessive inheritance	498	ATP5F1A	OMIM:616045
HP:0000007	Autosomal recessive inheritance	246329	STAC3	OMIM:255995
HP:0000007	Autosomal recessive inheritance	3689	ITGB2	OMIM:116920
HP:0000007	Autosomal recessive inheritance	7072	TIA1	OMIM:604454
HP:0000007	Autosomal recessive inheritance	4638	MYLK	OMIM:249210
HP:0000007	Autosomal recessive inheritance	229	ALDOB	OMIM:229600
HP:0000007	Autosomal recessive inheritance	9853	RUSC2	OMIM:617773
HP:0000007	Autosomal recessive inheritance	9860	LRIG2	OMIM:615112
HP:0000007	Autosomal recessive inheritance	4750	NEK1	OMIM:263520
HP:0000007	Autosomal recessive inheritance	4750	NEK1	OMIM:252100
HP:0000007	Autosomal recessive inheritance	84818	IL17RC	OMIM:616445
HP:0000007	Autosomal recessive inheritance	220	ALDH1A3	OMIM:615113
HP:0000007	Autosomal recessive inheritance	1355	COX15	OMIM:615119
HP:0000007	Autosomal recessive inheritance	81857	MED25	OMIM:616449
HP:0000007	Autosomal recessive inheritance	81857	MED25	OMIM:605589
HP:0000007	Autosomal recessive inheritance	2720	GLB1	OMIM:230600
HP:0000007	Autosomal recessive inheritance	2720	GLB1	OMIM:230650
HP:0000007	Autosomal recessive inheritance	2720	GLB1	OMIM:230500
HP:0000007	Autosomal recessive inheritance	2720	GLB1	OMIM:253010
HP:0000007	Autosomal recessive inheritance	55733	HHAT	OMIM:600092
HP:0000007	Autosomal recessive inheritance	57165	GJC2	OMIM:608804
HP:0000007	Autosomal recessive inheritance	57165	GJC2	OMIM:613206
HP:0000007	Autosomal recessive inheritance	267010	RNU12	OMIM:603116
HP:0000007	Autosomal recessive inheritance	267010	RNU12	OMIM:620208
HP:0000007	Autosomal recessive inheritance	7259	TSPYL1	OMIM:608800
HP:0000007	Autosomal recessive inheritance	9742	IFT140	OMIM:617781
HP:0000007	Autosomal recessive inheritance	9742	IFT140	OMIM:266920
HP:0000007	Autosomal recessive inheritance	4522	MTHFD1	OMIM:617780
HP:0000007	Autosomal recessive inheritance	4522	MTHFD1	OMIM:601634
HP:0000007	Autosomal recessive inheritance	939	CD27	OMIM:615122
HP:0000007	Autosomal recessive inheritance	55159	RFWD3	OMIM:617784
HP:0000007	Autosomal recessive inheritance	8842	PROM1	OMIM:612095
HP:0000007	Autosomal recessive inheritance	8842	PROM1	OMIM:612657
HP:0000007	Autosomal recessive inheritance	375790	AGRN	OMIM:615120
HP:0000007	Autosomal recessive inheritance	25959	KANK2	OMIM:617783
HP:0000007	Autosomal recessive inheritance	25959	KANK2	OMIM:616099
HP:0000007	Autosomal recessive inheritance	200205	IBA57	OMIM:616451
HP:0000007	Autosomal recessive inheritance	200205	IBA57	OMIM:615330
HP:0000007	Autosomal recessive inheritance	790	CAD	OMIM:616457
HP:0000007	Autosomal recessive inheritance	54982	CLN6	OMIM:204300
HP:0000007	Autosomal recessive inheritance	54982	CLN6	OMIM:601780
HP:0000007	Autosomal recessive inheritance	28960	DCPS	OMIM:616459
HP:0000007	Autosomal recessive inheritance	120227	CYP2R1	OMIM:600081
HP:0000007	Autosomal recessive inheritance	51816	ADA2	OMIM:182410
HP:0000007	Autosomal recessive inheritance	51816	ADA2	OMIM:615688
HP:0000007	Autosomal recessive inheritance	80153	EDC3	OMIM:616460
HP:0000007	Autosomal recessive inheritance	2937	GSS	OMIM:231900
HP:0000007	Autosomal recessive inheritance	2937	GSS	OMIM:266130
HP:0000007	Autosomal recessive inheritance	79797	ZNF408	OMIM:616469
HP:0000007	Autosomal recessive inheritance	152926	PPM1K	OMIM:615135
HP:0000007	Autosomal recessive inheritance	1303	COL12A1	OMIM:616470
HP:0000007	Autosomal recessive inheritance	57498	KIDINS220	OMIM:619501
HP:0000007	Autosomal recessive inheritance	55714	TENM3	OMIM:615145
HP:0000007	Autosomal recessive inheritance	246243	RNASEH1	OMIM:616479
HP:0000007	Autosomal recessive inheritance	5950	RBP4	OMIM:615147
HP:0000007	Autosomal recessive inheritance	8642	DCHS1	OMIM:601390
HP:0000007	Autosomal recessive inheritance	64072	CDH23	OMIM:601386
HP:0000007	Autosomal recessive inheritance	64072	CDH23	OMIM:601067
HP:0000007	Autosomal recessive inheritance	491	ATP2B2	OMIM:601386
HP:0000007	Autosomal recessive inheritance	83861	RSPH3	OMIM:616481
HP:0000007	Autosomal recessive inheritance	85301	COL27A1	OMIM:615155
HP:0000007	Autosomal recessive inheritance	84879	MFSD2A	OMIM:616486
HP:0000007	Autosomal recessive inheritance	27089	UQCRQ	OMIM:615159
HP:0000007	Autosomal recessive inheritance	1182	CLCN3	OMIM:619517
HP:0000007	Autosomal recessive inheritance	1001	CDH3	OMIM:225280
HP:0000007	Autosomal recessive inheritance	1001	CDH3	OMIM:601553
HP:0000007	Autosomal recessive inheritance	9453	GGPS1	OMIM:619518
HP:0000007	Autosomal recessive inheritance	54902	TTC19	OMIM:615157
HP:0000007	Autosomal recessive inheritance	6023	RMRP	OMIM:250250
HP:0000007	Autosomal recessive inheritance	6023	RMRP	OMIM:250460
HP:0000007	Autosomal recessive inheritance	6023	RMRP	OMIM:607095
HP:0000007	Autosomal recessive inheritance	9681	DEPDC5	OMIM:620504
HP:0000007	Autosomal recessive inheritance	7381	UQCRB	OMIM:615158
HP:0000007	Autosomal recessive inheritance	59335	PRDM12	OMIM:616488
HP:0000007	Autosomal recessive inheritance	2550	GABBR1	OMIM:620502
HP:0000007	Autosomal recessive inheritance	196385	DNAH10	OMIM:619515
HP:0000007	Autosomal recessive inheritance	49	ACR	OMIM:620500
HP:0000007	Autosomal recessive inheritance	148867	SLC30A7	OMIM:620501
HP:0000007	Autosomal recessive inheritance	150468	CKAP2L	OMIM:272440
HP:0000007	Autosomal recessive inheritance	8898	MTMR2	OMIM:601382
HP:0000007	Autosomal recessive inheritance	9533	POLR1C	OMIM:616494
HP:0000007	Autosomal recessive inheritance	9533	POLR1C	OMIM:248390
HP:0000007	Autosomal recessive inheritance	7385	UQCRC2	OMIM:615160
HP:0000007	Autosomal recessive inheritance	150274	HSCB	OMIM:619523
HP:0000007	Autosomal recessive inheritance	3972	LHB	OMIM:228300
HP:0000007	Autosomal recessive inheritance	154197	PNLDC1	OMIM:619528
HP:0000007	Autosomal recessive inheritance	6621	SNAPC4	OMIM:620515
HP:0000007	Autosomal recessive inheritance	9562	MINPP1	OMIM:619527
HP:0000007	Autosomal recessive inheritance	51163	DBR1	OMIM:620510
HP:0000007	Autosomal recessive inheritance	51163	DBR1	OMIM:619441
HP:0000007	Autosomal recessive inheritance	4353	MPO	OMIM:254600
HP:0000007	Autosomal recessive inheritance	675	BRCA2	OMIM:605724
HP:0000007	Autosomal recessive inheritance	675	BRCA2	OMIM:613029
HP:0000007	Autosomal recessive inheritance	675	BRCA2	OMIM:155255
HP:0000007	Autosomal recessive inheritance	10280	SIGMAR1	OMIM:605726
HP:0000007	Autosomal recessive inheritance	10280	SIGMAR1	OMIM:614373
HP:0000007	Autosomal recessive inheritance	153201	SLC36A2	OMIM:242600
HP:0000007	Autosomal recessive inheritance	83723	TLCD3B	OMIM:619531
HP:0000007	Autosomal recessive inheritance	22906	TRAK1	OMIM:618201
HP:0000007	Autosomal recessive inheritance	79989	IFT56	OMIM:619534
HP:0000007	Autosomal recessive inheritance	10848	PPP1R13L	OMIM:620519
HP:0000007	Autosomal recessive inheritance	11152	WDR45	OMIM:615179
HP:0000007	Autosomal recessive inheritance	83938	LRMDA	OMIM:615179
HP:0000007	Autosomal recessive inheritance	2678	GGT1	OMIM:231950
HP:0000007	Autosomal recessive inheritance	7476	WNT7A	OMIM:276820
HP:0000007	Autosomal recessive inheritance	7476	WNT7A	OMIM:228930
HP:0000007	Autosomal recessive inheritance	2317	FLNB	OMIM:272460
HP:0000007	Autosomal recessive inheritance	9496	TBX4	OMIM:601360
HP:0000007	Autosomal recessive inheritance	9896	FIG4	OMIM:216340
HP:0000007	Autosomal recessive inheritance	9896	FIG4	OMIM:612691
HP:0000007	Autosomal recessive inheritance	9896	FIG4	OMIM:611228
HP:0000007	Autosomal recessive inheritance	148789	B3GALNT2	OMIM:615181
HP:0000007	Autosomal recessive inheritance	27247	NFU1	OMIM:605711
HP:0000007	Autosomal recessive inheritance	27247	NFU1	OMIM:620938
HP:0000007	Autosomal recessive inheritance	4883	NPR3	OMIM:619543
HP:0000007	Autosomal recessive inheritance	6576	SLC25A1	OMIM:615182
HP:0000007	Autosomal recessive inheritance	6576	SLC25A1	OMIM:618197
HP:0000007	Autosomal recessive inheritance	7040	TGFB1	OMIM:618213
HP:0000007	Autosomal recessive inheritance	7040	TGFB1	OMIM:219700
HP:0000007	Autosomal recessive inheritance	137392	CIBAR1	OMIM:618219
HP:0000007	Autosomal recessive inheritance	1285	COL4A3	OMIM:620536
HP:0000007	Autosomal recessive inheritance	164	AP1G1	OMIM:619548
HP:0000007	Autosomal recessive inheritance	84888	SPPL2A	OMIM:619549
HP:0000007	Autosomal recessive inheritance	6730	SRP68	OMIM:620534
HP:0000007	Autosomal recessive inheritance	2879	GPX4	OMIM:250220
HP:0000007	Autosomal recessive inheritance	3912	LAMB1	OMIM:615191
HP:0000007	Autosomal recessive inheritance	2235	FECH	OMIM:177000
HP:0000007	Autosomal recessive inheritance	199713	NLRP7	OMIM:231090
HP:0000007	Autosomal recessive inheritance	51750	RTEL1	OMIM:615190
HP:0000007	Autosomal recessive inheritance	4728	NDUFS8	OMIM:618222
HP:0000007	Autosomal recessive inheritance	374291	NDUFS7	OMIM:618224
HP:0000007	Autosomal recessive inheritance	4723	NDUFV1	OMIM:618225
HP:0000007	Autosomal recessive inheritance	9785	DHX38	OMIM:618220
HP:0000007	Autosomal recessive inheritance	79705	LRRK1	OMIM:615198
HP:0000007	Autosomal recessive inheritance	57102	FERRY3	OMIM:618221
HP:0000007	Autosomal recessive inheritance	147872	KASH5	OMIM:620548
HP:0000007	Autosomal recessive inheritance	147872	KASH5	OMIM:620547
HP:0000007	Autosomal recessive inheritance	359	AQP2	OMIM:125800
HP:0000007	Autosomal recessive inheritance	4719	NDUFS1	OMIM:618226
HP:0000007	Autosomal recessive inheritance	83548	COG3	OMIM:620546
HP:0000007	Autosomal recessive inheritance	55628	ZNF407	OMIM:619557
HP:0000007	Autosomal recessive inheritance	4720	NDUFS2	OMIM:618228
HP:0000007	Autosomal recessive inheritance	4720	NDUFS2	OMIM:620569
HP:0000007	Autosomal recessive inheritance	170689	ADAMTS15	OMIM:620545
HP:0000007	Autosomal recessive inheritance	4729	NDUFV2	OMIM:618229
HP:0000007	Autosomal recessive inheritance	4179	CD46	OMIM:612922
HP:0000007	Autosomal recessive inheritance	7443	VRK1	OMIM:620542
HP:0000007	Autosomal recessive inheritance	7443	VRK1	OMIM:607596
HP:0000007	Autosomal recessive inheritance	23363	OBSL1	OMIM:612921
HP:0000007	Autosomal recessive inheritance	6916	TBXAS1	OMIM:231095
HP:0000007	Autosomal recessive inheritance	3848	KRT1	OMIM:113800
HP:0000007	Autosomal recessive inheritance	91942	NDUFAF2	OMIM:618233
HP:0000007	Autosomal recessive inheritance	6514	SLC2A2	OMIM:227810
HP:0000007	Autosomal recessive inheritance	84909	AOPEP	OMIM:619565
HP:0000007	Autosomal recessive inheritance	51103	NDUFAF1	OMIM:618234
HP:0000007	Autosomal recessive inheritance	3714	JAG2	OMIM:619566
HP:0000007	Autosomal recessive inheritance	4695	NDUFA2	OMIM:618235
HP:0000007	Autosomal recessive inheritance	126328	NDUFA11	OMIM:618236
HP:0000007	Autosomal recessive inheritance	6729	SRP54	OMIM:260400
HP:0000007	Autosomal recessive inheritance	51119	SBDS	OMIM:260400
HP:0000007	Autosomal recessive inheritance	4722	NDUFS3	OMIM:618230
HP:0000007	Autosomal recessive inheritance	219854	TMEM218	OMIM:619562
HP:0000007	Autosomal recessive inheritance	147138	TMC8	OMIM:618231
HP:0000007	Autosomal recessive inheritance	4726	NDUFS6	OMIM:618232
HP:0000007	Autosomal recessive inheritance	29078	NDUFAF4	OMIM:618237
HP:0000007	Autosomal recessive inheritance	8312	AXIN1	OMIM:620558
HP:0000007	Autosomal recessive inheritance	79133	NDUFAF5	OMIM:618238
HP:0000007	Autosomal recessive inheritance	137682	NDUFAF6	OMIM:618239
HP:0000007	Autosomal recessive inheritance	137682	NDUFAF6	OMIM:618913
HP:0000007	Autosomal recessive inheritance	1130	LYST	OMIM:214500
HP:0000007	Autosomal recessive inheritance	3939	LDHA	OMIM:612933
HP:0000007	Autosomal recessive inheritance	2027	ENO3	OMIM:612932
HP:0000007	Autosomal recessive inheritance	165829	GPR156	OMIM:620551
HP:0000007	Autosomal recessive inheritance	54344	DPM3	OMIM:612937
HP:0000007	Autosomal recessive inheritance	54344	DPM3	OMIM:618992
HP:0000007	Autosomal recessive inheritance	9179	AP4M1	OMIM:612936
HP:0000007	Autosomal recessive inheritance	79944	L2HGDH	OMIM:236792
HP:0000007	Autosomal recessive inheritance	79068	FTO	OMIM:612938
HP:0000007	Autosomal recessive inheritance	55967	NDUFA12	OMIM:618244
HP:0000007	Autosomal recessive inheritance	4715	NDUFB9	OMIM:618245
HP:0000007	Autosomal recessive inheritance	56915	EXOSC5	OMIM:619576
HP:0000007	Autosomal recessive inheritance	4709	NDUFB3	OMIM:618246
HP:0000007	Autosomal recessive inheritance	4704	NDUFA9	OMIM:618247
HP:0000007	Autosomal recessive inheritance	25915	NDUFAF3	OMIM:618240
HP:0000007	Autosomal recessive inheritance	55572	FOXRED1	OMIM:618241
HP:0000007	Autosomal recessive inheritance	80224	NUBPL	OMIM:618242
HP:0000007	Autosomal recessive inheritance	50619	DEF6	OMIM:619573
HP:0000007	Autosomal recessive inheritance	4705	NDUFA10	OMIM:618243
HP:0000007	Autosomal recessive inheritance	7170	TPM3	OMIM:609284
HP:0000007	Autosomal recessive inheritance	7170	TPM3	OMIM:255310
HP:0000007	Autosomal recessive inheritance	5831	PYCR1	OMIM:612940
HP:0000007	Autosomal recessive inheritance	5831	PYCR1	OMIM:614438
HP:0000007	Autosomal recessive inheritance	123263	MTFMT	OMIM:618248
HP:0000007	Autosomal recessive inheritance	123263	MTFMT	OMIM:614947
HP:0000007	Autosomal recessive inheritance	51079	NDUFA13	OMIM:618249
HP:0000007	Autosomal recessive inheritance	9820	CUL7	OMIM:273750
HP:0000007	Autosomal recessive inheritance	92344	GORAB	OMIM:231070
HP:0000007	Autosomal recessive inheritance	10092	ARPC5	OMIM:620565
HP:0000007	Autosomal recessive inheritance	2218	FKTN	OMIM:611615
HP:0000007	Autosomal recessive inheritance	2218	FKTN	OMIM:611588
HP:0000007	Autosomal recessive inheritance	2218	FKTN	OMIM:613152
HP:0000007	Autosomal recessive inheritance	2218	FKTN	OMIM:253800
HP:0000007	Autosomal recessive inheritance	2218	FKTN	OMIM:236670
HP:0000007	Autosomal recessive inheritance	23203	PMPCA	OMIM:213200
HP:0000007	Autosomal recessive inheritance	8604	SLC25A12	OMIM:612949
HP:0000007	Autosomal recessive inheritance	55863	TMEM126B	OMIM:618250
HP:0000007	Autosomal recessive inheritance	27031	NPHP3	OMIM:267010
HP:0000007	Autosomal recessive inheritance	27031	NPHP3	OMIM:604387
HP:0000007	Autosomal recessive inheritance	27031	NPHP3	OMIM:208540
HP:0000007	Autosomal recessive inheritance	6795	AURKC	OMIM:243060
HP:0000007	Autosomal recessive inheritance	55814	BDP1	OMIM:618257
HP:0000007	Autosomal recessive inheritance	51300	TIMMDC1	OMIM:618251
HP:0000007	Autosomal recessive inheritance	80173	IFT74	OMIM:619582
HP:0000007	Autosomal recessive inheritance	80173	IFT74	OMIM:619585
HP:0000007	Autosomal recessive inheritance	80173	IFT74	OMIM:617119
HP:0000007	Autosomal recessive inheritance	4714	NDUFB8	OMIM:618252
HP:0000007	Autosomal recessive inheritance	4700	NDUFA6	OMIM:618253
HP:0000007	Autosomal recessive inheritance	115399	LRRC56	OMIM:618254
HP:0000007	Autosomal recessive inheritance	8635	RNASET2	OMIM:612951
HP:0000007	Autosomal recessive inheritance	1200	TPP1	OMIM:609270
HP:0000007	Autosomal recessive inheritance	1200	TPP1	OMIM:204500
HP:0000007	Autosomal recessive inheritance	8398	PLA2G6	OMIM:612953
HP:0000007	Autosomal recessive inheritance	8398	PLA2G6	OMIM:610217
HP:0000007	Autosomal recessive inheritance	8398	PLA2G6	OMIM:256600
HP:0000007	Autosomal recessive inheritance	25939	SAMHD1	OMIM:612952
HP:0000007	Autosomal recessive inheritance	9244	CRLF1	OMIM:272430
HP:0000007	Autosomal recessive inheritance	164781	DAW1	OMIM:620570
HP:0000007	Autosomal recessive inheritance	970	CD70	OMIM:618261
HP:0000007	Autosomal recessive inheritance	80347	COASY	OMIM:618266
HP:0000007	Autosomal recessive inheritance	80347	COASY	OMIM:615643
HP:0000007	Autosomal recessive inheritance	54507	ADAMTSL4	OMIM:225200
HP:0000007	Autosomal recessive inheritance	54507	ADAMTSL4	OMIM:225100
HP:0000007	Autosomal recessive inheritance	64841	GNPNAT1	OMIM:619598
HP:0000007	Autosomal recessive inheritance	10519	CIB1	OMIM:618267
HP:0000007	Autosomal recessive inheritance	57003	CCDC47	OMIM:618268
HP:0000007	Autosomal recessive inheritance	3852	KRT5	OMIM:619599
HP:0000007	Autosomal recessive inheritance	10847	SRCAP	OMIM:619595
HP:0000007	Autosomal recessive inheritance	27349	MCAT	OMIM:620583
HP:0000007	Autosomal recessive inheritance	2312	FLG	OMIM:146700
HP:0000007	Autosomal recessive inheritance	374354	NHLRC2	OMIM:618278
HP:0000007	Autosomal recessive inheritance	64131	XYLT1	OMIM:264800
HP:0000007	Autosomal recessive inheritance	64131	XYLT1	OMIM:615777
HP:0000007	Autosomal recessive inheritance	368	ABCC6	OMIM:264800
HP:0000007	Autosomal recessive inheritance	368	ABCC6	OMIM:614473
HP:0000007	Autosomal recessive inheritance	23287	AGTPBP1	OMIM:618276
HP:0000007	Autosomal recessive inheritance	64093	SMOC1	OMIM:206920
HP:0000007	Autosomal recessive inheritance	23529	CLCF1	OMIM:610313
HP:0000007	Autosomal recessive inheritance	60681	FKBP10	OMIM:259450
HP:0000007	Autosomal recessive inheritance	60681	FKBP10	OMIM:610968
HP:0000007	Autosomal recessive inheritance	9657	IQCB1	OMIM:609254
HP:0000007	Autosomal recessive inheritance	84905	ZNF341	OMIM:618282
HP:0000007	Autosomal recessive inheritance	4140	MARK3	OMIM:618283
HP:0000007	Autosomal recessive inheritance	3739	KCNA4	OMIM:618284
HP:0000007	Autosomal recessive inheritance	8200	GDF5	OMIM:201250
HP:0000007	Autosomal recessive inheritance	8200	GDF5	OMIM:200700
HP:0000007	Autosomal recessive inheritance	8200	GDF5	OMIM:615072
HP:0000007	Autosomal recessive inheritance	8200	GDF5	OMIM:228900
HP:0000007	Autosomal recessive inheritance	4668	NAGA	OMIM:609241
HP:0000007	Autosomal recessive inheritance	4668	NAGA	OMIM:609242
HP:0000007	Autosomal recessive inheritance	9487	PIGL	OMIM:280000
HP:0000007	Autosomal recessive inheritance	5479	PPIB	OMIM:259440
HP:0000007	Autosomal recessive inheritance	84233	TMEM126A	OMIM:612989
HP:0000007	Autosomal recessive inheritance	84153	RNASEH2C	OMIM:610329
HP:0000007	Autosomal recessive inheritance	1795	DOCK3	OMIM:618292
HP:0000007	Autosomal recessive inheritance	5257	PHKB	OMIM:261750
HP:0000007	Autosomal recessive inheritance	8665	EIF3F	OMIM:618295
HP:0000007	Autosomal recessive inheritance	10535	RNASEH2A	OMIM:610333
HP:0000007	Autosomal recessive inheritance	117144	CATSPER1	OMIM:612997
HP:0000007	Autosomal recessive inheritance	161497	STRC	OMIM:612997
HP:0000007	Autosomal recessive inheritance	161497	STRC	OMIM:603720
HP:0000007	Autosomal recessive inheritance	161497	STRC	OMIM:611102
HP:0000007	Autosomal recessive inheritance	117155	CATSPER2	OMIM:612997
HP:0000007	Autosomal recessive inheritance	117155	CATSPER2	OMIM:611102
HP:0000007	Autosomal recessive inheritance	6295	SAG	OMIM:258100
HP:0000007	Autosomal recessive inheritance	6295	SAG	OMIM:613758
HP:0000007	Autosomal recessive inheritance	1534	CYB561	OMIM:618182
HP:0000007	Autosomal recessive inheritance	83483	PLVAP	OMIM:618183
HP:0000007	Autosomal recessive inheritance	54084	TSPEAR	OMIM:618180
HP:0000007	Autosomal recessive inheritance	54084	TSPEAR	OMIM:620173
HP:0000007	Autosomal recessive inheritance	54084	TSPEAR	OMIM:614861
HP:0000007	Autosomal recessive inheritance	79717	PPCS	OMIM:618189
HP:0000007	Autosomal recessive inheritance	8506	CNTNAP1	OMIM:618186
HP:0000007	Autosomal recessive inheritance	8506	CNTNAP1	OMIM:616286
HP:0000007	Autosomal recessive inheritance	55503	TRPV6	OMIM:618188
HP:0000007	Autosomal recessive inheritance	80821	DDHD1	OMIM:609340
HP:0000007	Autosomal recessive inheritance	494513	PJVK	OMIM:610220
HP:0000007	Autosomal recessive inheritance	84515	MCM8	OMIM:612885
HP:0000007	Autosomal recessive inheritance	8195	MKKS	OMIM:236700
HP:0000007	Autosomal recessive inheritance	8195	MKKS	OMIM:605231
HP:0000007	Autosomal recessive inheritance	2997	GYS1	OMIM:611556
HP:0000007	Autosomal recessive inheritance	55624	POMGNT1	OMIM:253280
HP:0000007	Autosomal recessive inheritance	55624	POMGNT1	OMIM:613151
HP:0000007	Autosomal recessive inheritance	55624	POMGNT1	OMIM:613157
HP:0000007	Autosomal recessive inheritance	55624	POMGNT1	OMIM:617123
HP:0000007	Autosomal recessive inheritance	3291	HSD11B2	OMIM:218030
HP:0000007	Autosomal recessive inheritance	5111	PCNA	OMIM:615919
HP:0000007	Autosomal recessive inheritance	2629	GBA1	OMIM:608013
HP:0000007	Autosomal recessive inheritance	2629	GBA1	OMIM:231005
HP:0000007	Autosomal recessive inheritance	2629	GBA1	OMIM:231000
HP:0000007	Autosomal recessive inheritance	2629	GBA1	OMIM:230900
HP:0000007	Autosomal recessive inheritance	2629	GBA1	OMIM:230800
HP:0000007	Autosomal recessive inheritance	57176	VARS2	OMIM:615917
HP:0000007	Autosomal recessive inheritance	80222	TARS2	OMIM:615918
HP:0000007	Autosomal recessive inheritance	54209	TREM2	OMIM:618193
HP:0000007	Autosomal recessive inheritance	49855	SCAPER	OMIM:618195
HP:0000007	Autosomal recessive inheritance	3909	LAMA3	OMIM:245660
HP:0000007	Autosomal recessive inheritance	3909	LAMA3	OMIM:226700
HP:0000007	Autosomal recessive inheritance	3909	LAMA3	OMIM:619784
HP:0000007	Autosomal recessive inheritance	3909	LAMA3	OMIM:619783
HP:0000007	Autosomal recessive inheritance	4649	MYO9A	OMIM:618198
HP:0000007	Autosomal recessive inheritance	23322	RPGRIP1L	OMIM:611561
HP:0000007	Autosomal recessive inheritance	23322	RPGRIP1L	OMIM:611560
HP:0000007	Autosomal recessive inheritance	23322	RPGRIP1L	OMIM:619113
HP:0000007	Autosomal recessive inheritance	3141	HLCS	OMIM:253270
HP:0000007	Autosomal recessive inheritance	25782	RAB3GAP2	OMIM:212720
HP:0000007	Autosomal recessive inheritance	25782	RAB3GAP2	OMIM:614225
HP:0000007	Autosomal recessive inheritance	9915	ARNT2	OMIM:615926
HP:0000007	Autosomal recessive inheritance	2693	GHSR	OMIM:615925
HP:0000007	Autosomal recessive inheritance	4868	NPHS1	OMIM:256300
HP:0000007	Autosomal recessive inheritance	7827	NPHS2	OMIM:600995
HP:0000007	Autosomal recessive inheritance	348	APOE	OMIM:269600
HP:0000007	Autosomal recessive inheritance	6499	SKIC2	OMIM:614602
HP:0000007	Autosomal recessive inheritance	686	BTD	OMIM:253260
HP:0000007	Autosomal recessive inheritance	3117	HLA-DQA1	OMIM:212750
HP:0000007	Autosomal recessive inheritance	3119	HLA-DQB1	OMIM:212750
HP:0000007	Autosomal recessive inheritance	256297	PTF1A	OMIM:615935
HP:0000007	Autosomal recessive inheritance	256297	PTF1A	OMIM:609069
HP:0000007	Autosomal recessive inheritance	7840	ALMS1	OMIM:203800
HP:0000007	Autosomal recessive inheritance	4591	TRIM37	OMIM:253250
HP:0000007	Autosomal recessive inheritance	2301	FOXE3	OMIM:610256
HP:0000007	Autosomal recessive inheritance	124512	METTL23	OMIM:615942
HP:0000007	Autosomal recessive inheritance	26005	C2CD3	OMIM:615948
HP:0000007	Autosomal recessive inheritance	9152	SLC6A5	OMIM:614618
HP:0000007	Autosomal recessive inheritance	65250	CPLANE1	OMIM:614615
HP:0000007	Autosomal recessive inheritance	65250	CPLANE1	OMIM:277170
HP:0000007	Autosomal recessive inheritance	338328	GPIHBP1	OMIM:615947
HP:0000007	Autosomal recessive inheritance	1174	AP1S1	OMIM:609313
HP:0000007	Autosomal recessive inheritance	121512	FGD4	OMIM:609311
HP:0000007	Autosomal recessive inheritance	7915	ALDH5A1	OMIM:271980
HP:0000007	Autosomal recessive inheritance	2743	GLRB	OMIM:614619
HP:0000007	Autosomal recessive inheritance	129563	DIS3L2	OMIM:267000
HP:0000007	Autosomal recessive inheritance	117531	TMC1	OMIM:600974
HP:0000007	Autosomal recessive inheritance	10585	POMT1	OMIM:609308
HP:0000007	Autosomal recessive inheritance	10585	POMT1	OMIM:613155
HP:0000007	Autosomal recessive inheritance	10585	POMT1	OMIM:236670
HP:0000007	Autosomal recessive inheritance	443	ASPA	OMIM:271900
HP:0000007	Autosomal recessive inheritance	259236	TMIE	OMIM:600971
HP:0000007	Autosomal recessive inheritance	1836	SLC26A2	OMIM:600972
HP:0000007	Autosomal recessive inheritance	1836	SLC26A2	OMIM:256050
HP:0000007	Autosomal recessive inheritance	1836	SLC26A2	OMIM:222600
HP:0000007	Autosomal recessive inheritance	1836	SLC26A2	OMIM:226900
HP:0000007	Autosomal recessive inheritance	80326	WNT10A	OMIM:224750
HP:0000007	Autosomal recessive inheritance	80326	WNT10A	OMIM:257980
HP:0000007	Autosomal recessive inheritance	80326	WNT10A	OMIM:150400
HP:0000007	Autosomal recessive inheritance	7010	TEK	OMIM:600975
HP:0000007	Autosomal recessive inheritance	1545	CYP1B1	OMIM:600975
HP:0000007	Autosomal recessive inheritance	1545	CYP1B1	OMIM:231300
HP:0000007	Autosomal recessive inheritance	1545	CYP1B1	OMIM:617315
HP:0000007	Autosomal recessive inheritance	6521	SLC4A1	OMIM:611590
HP:0000007	Autosomal recessive inheritance	222662	LHFPL5	OMIM:610265
HP:0000007	Autosomal recessive inheritance	10290	SPEG	OMIM:615959
HP:0000007	Autosomal recessive inheritance	79751	SLC25A22	OMIM:609304
HP:0000007	Autosomal recessive inheritance	9719	ADAMTSL2	OMIM:231050
HP:0000007	Autosomal recessive inheritance	9321	TRIP11	OMIM:184260
HP:0000007	Autosomal recessive inheritance	9321	TRIP11	OMIM:200600
HP:0000007	Autosomal recessive inheritance	284217	LAMA1	OMIM:615960
HP:0000007	Autosomal recessive inheritance	5591	PRKDC	OMIM:615966
HP:0000007	Autosomal recessive inheritance	286262	TPRN	OMIM:613307
HP:0000007	Autosomal recessive inheritance	64902	AGXT2	OMIM:210100
HP:0000007	Autosomal recessive inheritance	174	AFP	OMIM:615969
HP:0000007	Autosomal recessive inheritance	29851	ICOS	OMIM:607594
HP:0000007	Autosomal recessive inheritance	29851	ICOS	OMIM:240500
HP:0000007	Autosomal recessive inheritance	4920	ROR2	OMIM:268310
HP:0000007	Autosomal recessive inheritance	5122	PCSK1	OMIM:600955
HP:0000007	Autosomal recessive inheritance	50484	RRM2B	OMIM:268315
HP:0000007	Autosomal recessive inheritance	50484	RRM2B	OMIM:612075
HP:0000007	Autosomal recessive inheritance	64218	SEMA4A	OMIM:610282
HP:0000007	Autosomal recessive inheritance	64218	SEMA4A	OMIM:610283
HP:0000007	Autosomal recessive inheritance	282809	POC1B	OMIM:615973
HP:0000007	Autosomal recessive inheritance	729920	CRPPA	OMIM:614643
HP:0000007	Autosomal recessive inheritance	729920	CRPPA	OMIM:616052
HP:0000007	Autosomal recessive inheritance	2059	EPS8	OMIM:615974
HP:0000007	Autosomal recessive inheritance	57654	UVSSA	OMIM:614640
HP:0000007	Autosomal recessive inheritance	5167	ENPP1	OMIM:613312
HP:0000007	Autosomal recessive inheritance	5167	ENPP1	OMIM:208000
HP:0000007	Autosomal recessive inheritance	5167	ENPP1	OMIM:601665
HP:0000007	Autosomal recessive inheritance	57817	HAMP	OMIM:613313
HP:0000007	Autosomal recessive inheritance	1535	CYBA	OMIM:233690
HP:0000007	Autosomal recessive inheritance	79791	FBXO31	OMIM:615979
HP:0000007	Autosomal recessive inheritance	203859	ANO5	OMIM:613319
HP:0000007	Autosomal recessive inheritance	203859	ANO5	OMIM:611307
HP:0000007	Autosomal recessive inheritance	157570	ESCO2	OMIM:268300
HP:0000007	Autosomal recessive inheritance	157570	ESCO2	OMIM:216100
HP:0000007	Autosomal recessive inheritance	23636	NUP62	OMIM:271930
HP:0000007	Autosomal recessive inheritance	9775	EIF4A3	OMIM:268305
HP:0000007	Autosomal recessive inheritance	3991	LIPE	OMIM:615980
HP:0000007	Autosomal recessive inheritance	51004	COQ6	OMIM:614650
HP:0000007	Autosomal recessive inheritance	93183	PIGM	OMIM:610293
HP:0000007	Autosomal recessive inheritance	55212	BBS7	OMIM:615984
HP:0000007	Autosomal recessive inheritance	667	DST	OMIM:614653
HP:0000007	Autosomal recessive inheritance	667	DST	OMIM:615425
HP:0000007	Autosomal recessive inheritance	57017	COQ9	OMIM:614654
HP:0000007	Autosomal recessive inheritance	51025	PAM16	OMIM:613320
HP:0000007	Autosomal recessive inheritance	585	BBS4	OMIM:615982
HP:0000007	Autosomal recessive inheritance	23590	PDSS1	OMIM:614651
HP:0000007	Autosomal recessive inheritance	129880	BBS5	OMIM:615983
HP:0000007	Autosomal recessive inheritance	57107	PDSS2	OMIM:614652
HP:0000007	Autosomal recessive inheritance	22954	TRIM32	OMIM:615988
HP:0000007	Autosomal recessive inheritance	22954	TRIM32	OMIM:254110
HP:0000007	Autosomal recessive inheritance	166379	BBS12	OMIM:615989
HP:0000007	Autosomal recessive inheritance	27241	BBS9	OMIM:615986
HP:0000007	Autosomal recessive inheritance	1146	CHRNG	OMIM:253290
HP:0000007	Autosomal recessive inheritance	1146	CHRNG	OMIM:265000
HP:0000007	Autosomal recessive inheritance	1144	CHRND	OMIM:253290
HP:0000007	Autosomal recessive inheritance	1144	CHRND	OMIM:616322
HP:0000007	Autosomal recessive inheritance	1144	CHRND	OMIM:616323
HP:0000007	Autosomal recessive inheritance	284119	CAVIN1	OMIM:613327
HP:0000007	Autosomal recessive inheritance	79738	BBS10	OMIM:615987
HP:0000007	Autosomal recessive inheritance	5054	SERPINE1	OMIM:613329
HP:0000007	Autosomal recessive inheritance	90417	KNSTRN	OMIM:613328
HP:0000007	Autosomal recessive inheritance	5293	PIK3CD	OMIM:613328
HP:0000007	Autosomal recessive inheritance	5293	PIK3CD	OMIM:619281
HP:0000007	Autosomal recessive inheritance	60495	HPSE2	OMIM:236730
HP:0000007	Autosomal recessive inheritance	10878	CFHR3	OMIM:235400
HP:0000007	Autosomal recessive inheritance	3075	CFH	OMIM:235400
HP:0000007	Autosomal recessive inheritance	3075	CFH	OMIM:609814
HP:0000007	Autosomal recessive inheritance	3078	CFHR1	OMIM:235400
HP:0000007	Autosomal recessive inheritance	4038	LRP4	OMIM:212780
HP:0000007	Autosomal recessive inheritance	4038	LRP4	OMIM:616304
HP:0000007	Autosomal recessive inheritance	4038	LRP4	OMIM:614305
HP:0000007	Autosomal recessive inheritance	1738	DLD	OMIM:246900
HP:0000007	Autosomal recessive inheritance	201294	UNC13D	OMIM:608898
HP:0000007	Autosomal recessive inheritance	51057	WDPCP	OMIM:615992
HP:0000007	Autosomal recessive inheritance	51057	WDPCP	OMIM:217085
HP:0000007	Autosomal recessive inheritance	579	NKX3-2	OMIM:613330
HP:0000007	Autosomal recessive inheritance	54903	MKS1	OMIM:615990
HP:0000007	Autosomal recessive inheritance	54903	MKS1	OMIM:617121
HP:0000007	Autosomal recessive inheritance	54903	MKS1	OMIM:249000
HP:0000007	Autosomal recessive inheritance	5193	PEX12	OMIM:266510
HP:0000007	Autosomal recessive inheritance	5193	PEX12	OMIM:614859
HP:0000007	Autosomal recessive inheritance	92482	BBIP1	OMIM:615995
HP:0000007	Autosomal recessive inheritance	11020	IFT27	OMIM:615996
HP:0000007	Autosomal recessive inheritance	2984	GUCY2C	OMIM:614665
HP:0000007	Autosomal recessive inheritance	10806	SDCCAG8	OMIM:615993
HP:0000007	Autosomal recessive inheritance	10806	SDCCAG8	OMIM:613615
HP:0000007	Autosomal recessive inheritance	54585	LZTFL1	OMIM:615994
HP:0000007	Autosomal recessive inheritance	213	ALB	OMIM:615999
HP:0000007	Autosomal recessive inheritance	213	ALB	OMIM:616000
HP:0000007	Autosomal recessive inheritance	5332	PLCB4	OMIM:614669
HP:0000007	Autosomal recessive inheritance	5332	PLCB4	OMIM:620458
HP:0000007	Autosomal recessive inheritance	411	ARSB	OMIM:253200
HP:0000007	Autosomal recessive inheritance	91179	SCARF2	OMIM:600920
HP:0000007	Autosomal recessive inheritance	5264	PHYH	OMIM:266500
HP:0000007	Autosomal recessive inheritance	57798	GATAD1	OMIM:614672
HP:0000007	Autosomal recessive inheritance	9227	LRAT	OMIM:613341
HP:0000007	Autosomal recessive inheritance	9227	LRAT	OMIM:268000
HP:0000007	Autosomal recessive inheritance	10525	HYOU1	OMIM:233600
HP:0000007	Autosomal recessive inheritance	9662	CEP135	OMIM:614673
HP:0000007	Autosomal recessive inheritance	3459	IFNGR1	OMIM:209950
HP:0000007	Autosomal recessive inheritance	388389	DNAAF19	OMIM:614679
HP:0000007	Autosomal recessive inheritance	56997	COQ8A	OMIM:612016
HP:0000007	Autosomal recessive inheritance	91869	RFT1	OMIM:612015
HP:0000007	Autosomal recessive inheritance	51010	EXOSC3	OMIM:614678
HP:0000007	Autosomal recessive inheritance	11093	ADAMTS13	OMIM:274150
HP:0000007	Autosomal recessive inheritance	6301	SARS1	OMIM:617709
HP:0000007	Autosomal recessive inheritance	56155	TEX14	OMIM:617707
HP:0000007	Autosomal recessive inheritance	26224	FBXL3	OMIM:606220
HP:0000007	Autosomal recessive inheritance	10908	PNPLA6	OMIM:612020
HP:0000007	Autosomal recessive inheritance	10908	PNPLA6	OMIM:245800
HP:0000007	Autosomal recessive inheritance	10908	PNPLA6	OMIM:215470
HP:0000007	Autosomal recessive inheritance	10908	PNPLA6	OMIM:275400
HP:0000007	Autosomal recessive inheritance	10352	WARS2	OMIM:617710
HP:0000007	Autosomal recessive inheritance	10352	WARS2	OMIM:619738
HP:0000007	Autosomal recessive inheritance	708	C1QBP	OMIM:617713
HP:0000007	Autosomal recessive inheritance	124583	CANT1	OMIM:617719
HP:0000007	Autosomal recessive inheritance	124583	CANT1	OMIM:251450
HP:0000007	Autosomal recessive inheritance	10095	ARPC1B	OMIM:617718
HP:0000007	Autosomal recessive inheritance	2232	FDXR	OMIM:617717
HP:0000007	Autosomal recessive inheritance	2178	FANCE	OMIM:600901
HP:0000007	Autosomal recessive inheritance	3758	KCNJ1	OMIM:241200
HP:0000007	Autosomal recessive inheritance	55750	AGK	OMIM:614691
HP:0000007	Autosomal recessive inheritance	55750	AGK	OMIM:212350
HP:0000007	Autosomal recessive inheritance	1380	CR2	OMIM:614699
HP:0000007	Autosomal recessive inheritance	1380	CR2	OMIM:240500
HP:0000007	Autosomal recessive inheritance	55644	OSGEP	OMIM:617729
HP:0000007	Autosomal recessive inheritance	4352	MPL	OMIM:604498
HP:0000007	Autosomal recessive inheritance	112858	TP53RK	OMIM:617730
HP:0000007	Autosomal recessive inheritance	163786	SASS6	OMIM:616402
HP:0000007	Autosomal recessive inheritance	2548	GAA	OMIM:232300
HP:0000007	Autosomal recessive inheritance	51002	TPRKB	OMIM:617731
HP:0000007	Autosomal recessive inheritance	83737	ITCH	OMIM:613385
HP:0000007	Autosomal recessive inheritance	197135	PATL2	OMIM:617743
HP:0000007	Autosomal recessive inheritance	1293	COL6A3	OMIM:616411
HP:0000007	Autosomal recessive inheritance	1293	COL6A3	OMIM:620728
HP:0000007	Autosomal recessive inheritance	6569	SLC34A1	OMIM:613388
HP:0000007	Autosomal recessive inheritance	6569	SLC34A1	OMIM:616963
HP:0000007	Autosomal recessive inheritance	54805	CNNM2	OMIM:616418
HP:0000007	Autosomal recessive inheritance	4913	NTHL1	OMIM:616415
HP:0000007	Autosomal recessive inheritance	9215	LARGE1	OMIM:608840
HP:0000007	Autosomal recessive inheritance	9215	LARGE1	OMIM:613154
HP:0000007	Autosomal recessive inheritance	9215	LARGE1	OMIM:236670
HP:0000007	Autosomal recessive inheritance	29929	ALG6	OMIM:603147
HP:0000007	Autosomal recessive inheritance	5889	RAD51C	OMIM:613390
HP:0000007	Autosomal recessive inheritance	374462	PTPRQ	OMIM:613391
HP:0000007	Autosomal recessive inheritance	29920	PYCR2	OMIM:616420
HP:0000007	Autosomal recessive inheritance	3889	KRT83	OMIM:617756
HP:0000007	Autosomal recessive inheritance	1663	DDX11	OMIM:613398
HP:0000007	Autosomal recessive inheritance	8575	PRKRA	OMIM:612067
HP:0000007	Autosomal recessive inheritance	2990	GUSB	OMIM:253220
HP:0000007	Autosomal recessive inheritance	51684	SUFU	OMIM:617757
HP:0000007	Autosomal recessive inheritance	51684	SUFU	OMIM:155255
HP:0000007	Autosomal recessive inheritance	9469	CHST3	OMIM:245600
HP:0000007	Autosomal recessive inheritance	9469	CHST3	OMIM:143095
HP:0000007	Autosomal recessive inheritance	26229	B3GAT3	OMIM:245600
HP:0000007	Autosomal recessive inheritance	23404	EXOSC2	OMIM:617763
HP:0000007	Autosomal recessive inheritance	55331	ACER3	OMIM:617762
HP:0000007	Autosomal recessive inheritance	8803	SUCLA2	OMIM:612073
HP:0000007	Autosomal recessive inheritance	153241	CEP120	OMIM:617761
HP:0000007	Autosomal recessive inheritance	153241	CEP120	OMIM:616300
HP:0000007	Autosomal recessive inheritance	92935	MARS2	OMIM:616430
HP:0000007	Autosomal recessive inheritance	92935	MARS2	OMIM:611390
HP:0000007	Autosomal recessive inheritance	56606	SLC2A9	OMIM:612076
HP:0000007	Autosomal recessive inheritance	51776	MAP3K20	OMIM:617760
HP:0000007	Autosomal recessive inheritance	51776	MAP3K20	OMIM:616890
HP:0000007	Autosomal recessive inheritance	10464	PIBF1	OMIM:617767
HP:0000007	Autosomal recessive inheritance	29089	UBE2T	OMIM:616435
HP:0000007	Autosomal recessive inheritance	7372	UMPS	OMIM:258900
HP:0000007	Autosomal recessive inheritance	1794	DOCK2	OMIM:616433
HP:0000007	Autosomal recessive inheritance	55131	RBM28	OMIM:612079
HP:0000007	Autosomal recessive inheritance	6647	SOD1	OMIM:105400
HP:0000007	Autosomal recessive inheritance	6647	SOD1	OMIM:618598
HP:0000007	Autosomal recessive inheritance	5630	PRPH	OMIM:105400
HP:0000007	Autosomal recessive inheritance	1639	DCTN1	OMIM:105400
HP:0000007	Autosomal recessive inheritance	4744	NEFH	OMIM:105400
HP:0000007	Autosomal recessive inheritance	9990	SLC12A6	OMIM:218000
HP:0000007	Autosomal recessive inheritance	261734	NPHP4	OMIM:606996
HP:0000007	Autosomal recessive inheritance	261734	NPHP4	OMIM:606966
HP:0000007	Autosomal recessive inheritance	6555	SLC10A2	OMIM:613291
HP:0000007	Autosomal recessive inheritance	3071	NCKAP1L	OMIM:618982
HP:0000007	Autosomal recessive inheritance	3998	LMAN1	OMIM:227300
HP:0000007	Autosomal recessive inheritance	4593	MUSK	OMIM:616325
HP:0000007	Autosomal recessive inheritance	4593	MUSK	OMIM:208150
HP:0000007	Autosomal recessive inheritance	4919	ROR1	OMIM:617654
HP:0000007	Autosomal recessive inheritance	5880	RAC2	OMIM:618987
HP:0000007	Autosomal recessive inheritance	8291	DYSF	OMIM:253601
HP:0000007	Autosomal recessive inheritance	8291	DYSF	OMIM:606768
HP:0000007	Autosomal recessive inheritance	8291	DYSF	OMIM:254130
HP:0000007	Autosomal recessive inheritance	825	CAPN3	OMIM:253600
HP:0000007	Autosomal recessive inheritance	4552	MTRR	OMIM:236270
HP:0000007	Autosomal recessive inheritance	4552	MTRR	OMIM:601634
HP:0000007	Autosomal recessive inheritance	23498	HAAO	OMIM:617660
HP:0000007	Autosomal recessive inheritance	4867	NPHP1	OMIM:266900
HP:0000007	Autosomal recessive inheritance	4867	NPHP1	OMIM:609583
HP:0000007	Autosomal recessive inheritance	4867	NPHP1	OMIM:256100
HP:0000007	Autosomal recessive inheritance	65993	MRPS34	OMIM:617664
HP:0000007	Autosomal recessive inheritance	1584	CYP11B1	OMIM:202010
HP:0000007	Autosomal recessive inheritance	64412	GZF1	OMIM:617662
HP:0000007	Autosomal recessive inheritance	387787	LIPT2	OMIM:617668
HP:0000007	Autosomal recessive inheritance	6487	ST3GAL3	OMIM:615006
HP:0000007	Autosomal recessive inheritance	6487	ST3GAL3	OMIM:611090
HP:0000007	Autosomal recessive inheritance	23426	GRIP1	OMIM:617667
HP:0000007	Autosomal recessive inheritance	27229	TUBGCP4	OMIM:616335
HP:0000007	Autosomal recessive inheritance	341640	FREM2	OMIM:617666
HP:0000007	Autosomal recessive inheritance	341640	FREM2	OMIM:123570
HP:0000007	Autosomal recessive inheritance	10686	CLDN16	OMIM:248250
HP:0000007	Autosomal recessive inheritance	51112	TRAPPC12	OMIM:617669
HP:0000007	Autosomal recessive inheritance	8526	DGKE	OMIM:615008
HP:0000007	Autosomal recessive inheritance	3508	IGHMBP2	OMIM:604320
HP:0000007	Autosomal recessive inheritance	3508	IGHMBP2	OMIM:616155
HP:0000007	Autosomal recessive inheritance	57082	KNL1	OMIM:604321
HP:0000007	Autosomal recessive inheritance	55650	PIGV	OMIM:239300
HP:0000007	Autosomal recessive inheritance	284403	WDR62	OMIM:604317
HP:0000007	Autosomal recessive inheritance	6444	SGCD	OMIM:601287
HP:0000007	Autosomal recessive inheritance	1080	CFTR	OMIM:219700
HP:0000007	Autosomal recessive inheritance	1080	CFTR	OMIM:277180
HP:0000007	Autosomal recessive inheritance	2212	FCGR2A	OMIM:219700
HP:0000007	Autosomal recessive inheritance	9071	CLDN10	OMIM:617671
HP:0000007	Autosomal recessive inheritance	55154	MSTO1	OMIM:617675
HP:0000007	Autosomal recessive inheritance	103	ADAR	OMIM:615010
HP:0000007	Autosomal recessive inheritance	1020	CDK5	OMIM:616342
HP:0000007	Autosomal recessive inheritance	54757	FAM20A	OMIM:204690
HP:0000007	Autosomal recessive inheritance	85007	PHYKPL	OMIM:615011
HP:0000007	Autosomal recessive inheritance	3665	IRF7	OMIM:616345
HP:0000007	Autosomal recessive inheritance	26154	ABCA12	OMIM:601277
HP:0000007	Autosomal recessive inheritance	26154	ABCA12	OMIM:242500
HP:0000007	Autosomal recessive inheritance	4620	MYH2	OMIM:605637
HP:0000007	Autosomal recessive inheritance	4524	MTHFR	OMIM:236250
HP:0000007	Autosomal recessive inheritance	4524	MTHFR	OMIM:601634
HP:0000007	Autosomal recessive inheritance	567	B2M	OMIM:241600
HP:0000007	Autosomal recessive inheritance	204219	CERS3	OMIM:615023
HP:0000007	Autosomal recessive inheritance	57231	SNX14	OMIM:616354
HP:0000007	Autosomal recessive inheritance	285848	PNPLA1	OMIM:615024
HP:0000007	Autosomal recessive inheritance	5073	PARN	OMIM:616353
HP:0000007	Autosomal recessive inheritance	23086	EXPH5	OMIM:615028
HP:0000007	Autosomal recessive inheritance	950	SCARB2	OMIM:254900
HP:0000007	Autosomal recessive inheritance	81794	ADAMTS10	OMIM:277600
HP:0000007	Autosomal recessive inheritance	113612	CYP2U1	OMIM:615030
HP:0000007	Autosomal recessive inheritance	9895	TECPR2	OMIM:615031
HP:0000007	Autosomal recessive inheritance	402381	SOHLH1	OMIM:617690
HP:0000007	Autosomal recessive inheritance	91574	MTRFR	OMIM:615035
HP:0000007	Autosomal recessive inheritance	91574	MTRFR	OMIM:613559
HP:0000007	Autosomal recessive inheritance	55773	TBC1D23	OMIM:617695
HP:0000007	Autosomal recessive inheritance	8558	CDK10	OMIM:617694
HP:0000007	Autosomal recessive inheritance	23259	DDHD2	OMIM:615033
HP:0000007	Autosomal recessive inheritance	92609	TIMM50	OMIM:617698
HP:0000007	Autosomal recessive inheritance	5836	PYGL	OMIM:232700
HP:0000007	Autosomal recessive inheritance	58	ACTA1	OMIM:161800
HP:0000007	Autosomal recessive inheritance	58	ACTA1	OMIM:620265
HP:0000007	Autosomal recessive inheritance	7173	TPO	OMIM:274500
HP:0000007	Autosomal recessive inheritance	6101	RP1	OMIM:180100
HP:0000007	Autosomal recessive inheritance	124590	USH1G	OMIM:606943
HP:0000007	Autosomal recessive inheritance	10329	RXYLT1	OMIM:615041
HP:0000007	Autosomal recessive inheritance	8818	DPM2	OMIM:615042
HP:0000007	Autosomal recessive inheritance	122961	ISCA2	OMIM:616370
HP:0000007	Autosomal recessive inheritance	83636	C19orf12	OMIM:615043
HP:0000007	Autosomal recessive inheritance	83636	C19orf12	OMIM:614298
HP:0000007	Autosomal recessive inheritance	3579	CXCR2	OMIM:619407
HP:0000007	Autosomal recessive inheritance	10531	PITRM1	OMIM:619405
HP:0000007	Autosomal recessive inheritance	3773	KCNJ16	OMIM:619406
HP:0000007	Autosomal recessive inheritance	4351	MPI	OMIM:602579
HP:0000007	Autosomal recessive inheritance	326	AIRE	OMIM:240300
HP:0000007	Autosomal recessive inheritance	8565	YARS1	OMIM:619418
HP:0000007	Autosomal recessive inheritance	345193	LRIT3	OMIM:615058
HP:0000007	Autosomal recessive inheritance	5741	PTH	OMIM:146200
HP:0000007	Autosomal recessive inheritance	2779	GNAT1	OMIM:616389
HP:0000007	Autosomal recessive inheritance	10229	COQ7	OMIM:620402
HP:0000007	Autosomal recessive inheritance	10229	COQ7	OMIM:616733
HP:0000007	Autosomal recessive inheritance	286204	CRB2	OMIM:219730
HP:0000007	Autosomal recessive inheritance	286204	CRB2	OMIM:616220
HP:0000007	Autosomal recessive inheritance	1967	EIF2B1	OMIM:603896
HP:0000007	Autosomal recessive inheritance	2697	GJA1	OMIM:218400
HP:0000007	Autosomal recessive inheritance	2697	GJA1	OMIM:257850
HP:0000007	Autosomal recessive inheritance	5959	RDH5	OMIM:136880
HP:0000007	Autosomal recessive inheritance	6010	RHO	OMIM:136880
HP:0000007	Autosomal recessive inheritance	6010	RHO	OMIM:613731
HP:0000007	Autosomal recessive inheritance	6017	RLBP1	OMIM:136880
HP:0000007	Autosomal recessive inheritance	6017	RLBP1	OMIM:607476
HP:0000007	Autosomal recessive inheritance	6017	RLBP1	OMIM:607475
HP:0000007	Autosomal recessive inheritance	2071	ERCC3	OMIM:616390
HP:0000007	Autosomal recessive inheritance	2071	ERCC3	OMIM:610651
HP:0000007	Autosomal recessive inheritance	85300	ATCAY	OMIM:601238
HP:0000007	Autosomal recessive inheritance	404672	GTF2H5	OMIM:616395
HP:0000007	Autosomal recessive inheritance	26160	IFT172	OMIM:616394
HP:0000007	Autosomal recessive inheritance	26160	IFT172	OMIM:619471
HP:0000007	Autosomal recessive inheritance	26160	IFT172	OMIM:615630
HP:0000007	Autosomal recessive inheritance	10533	ATG7	OMIM:619422
HP:0000007	Autosomal recessive inheritance	205327	C2orf69	OMIM:619423
HP:0000007	Autosomal recessive inheritance	4633	MYL2	OMIM:619424
HP:0000007	Autosomal recessive inheritance	93233	ODAD1	OMIM:615067
HP:0000007	Autosomal recessive inheritance	9427	ECEL1	OMIM:615065
HP:0000007	Autosomal recessive inheritance	26074	CFAP61	OMIM:620409
HP:0000007	Autosomal recessive inheritance	55151	TMEM38B	OMIM:615066
HP:0000007	Autosomal recessive inheritance	344	APOC2	OMIM:207750
HP:0000007	Autosomal recessive inheritance	2583	B4GALNT1	OMIM:609195
HP:0000007	Autosomal recessive inheritance	171546	SPTSSA	OMIM:620417
HP:0000007	Autosomal recessive inheritance	11232	POLG2	OMIM:619425
HP:0000007	Autosomal recessive inheritance	11232	POLG2	OMIM:618528
HP:0000007	Autosomal recessive inheritance	7286	TUFT1	OMIM:620415
HP:0000007	Autosomal recessive inheritance	389827	MYMK	OMIM:254940
HP:0000007	Autosomal recessive inheritance	51574	LARP7	OMIM:615071
HP:0000007	Autosomal recessive inheritance	65992	DDRGK1	OMIM:602557
HP:0000007	Autosomal recessive inheritance	10112	KIF20A	OMIM:619433
HP:0000007	Autosomal recessive inheritance	84894	LINGO1	OMIM:618103
HP:0000007	Autosomal recessive inheritance	10765	KDM5B	OMIM:618109
HP:0000007	Autosomal recessive inheritance	53371	NUP54	OMIM:620427
HP:0000007	Autosomal recessive inheritance	54973	INTS11	OMIM:620428
HP:0000007	Autosomal recessive inheritance	55505	NOP10	OMIM:620425
HP:0000007	Autosomal recessive inheritance	55505	NOP10	OMIM:224230
HP:0000007	Autosomal recessive inheritance	27148	STK36	OMIM:619436
HP:0000007	Autosomal recessive inheritance	2653	GCSH	OMIM:620423
HP:0000007	Autosomal recessive inheritance	9526	MPDU1	OMIM:609180
HP:0000007	Autosomal recessive inheritance	8737	RIPK1	OMIM:618108
HP:0000007	Autosomal recessive inheritance	5428	POLG	OMIM:258450
HP:0000007	Autosomal recessive inheritance	5428	POLG	OMIM:607459
HP:0000007	Autosomal recessive inheritance	5428	POLG	OMIM:603041
HP:0000007	Autosomal recessive inheritance	5428	POLG	OMIM:203700
HP:0000007	Autosomal recessive inheritance	5428	POLG	OMIM:613662
HP:0000007	Autosomal recessive inheritance	1120	CHKB	OMIM:602541
HP:0000007	Autosomal recessive inheritance	4054	LTBP3	OMIM:601216
HP:0000007	Autosomal recessive inheritance	3728	JUP	OMIM:601214
HP:0000007	Autosomal recessive inheritance	29887	SNX10	OMIM:615085
HP:0000007	Autosomal recessive inheritance	83449	PMFBP1	OMIM:618112
HP:0000007	Autosomal recessive inheritance	6809	STX3	OMIM:619445
HP:0000007	Autosomal recessive inheritance	6809	STX3	OMIM:619446
HP:0000007	Autosomal recessive inheritance	92667	MGME1	OMIM:615084
HP:0000007	Autosomal recessive inheritance	8492	PRSS12	OMIM:249500
HP:0000007	Autosomal recessive inheritance	122402	TDRD9	OMIM:618110
HP:0000007	Autosomal recessive inheritance	54014	BRWD1	OMIM:620438
HP:0000007	Autosomal recessive inheritance	114803	MYSM1	OMIM:618116
HP:0000007	Autosomal recessive inheritance	2250	FGF5	OMIM:190330
HP:0000007	Autosomal recessive inheritance	4041	LRP5	OMIM:259770
HP:0000007	Autosomal recessive inheritance	4041	LRP5	OMIM:601813
HP:0000007	Autosomal recessive inheritance	868	CBLB	OMIM:620430
HP:0000007	Autosomal recessive inheritance	176	ACAN	OMIM:612813
HP:0000007	Autosomal recessive inheritance	23218	NBEAL2	OMIM:139090
HP:0000007	Autosomal recessive inheritance	56975	FAM20C	OMIM:259775
HP:0000007	Autosomal recessive inheritance	55249	YY1AP1	OMIM:602531
HP:0000007	Autosomal recessive inheritance	2735	GLI1	OMIM:618123
HP:0000007	Autosomal recessive inheritance	2735	GLI1	OMIM:174400
HP:0000007	Autosomal recessive inheritance	8888	MCM3AP	OMIM:618124
HP:0000007	Autosomal recessive inheritance	63925	ZNF335	OMIM:615095
HP:0000007	Autosomal recessive inheritance	513	ATP5F1D	OMIM:618120
HP:0000007	Autosomal recessive inheritance	4052	LTBP1	OMIM:619451
HP:0000007	Autosomal recessive inheritance	81788	NUAK2	OMIM:619452
HP:0000007	Autosomal recessive inheritance	27341	RRP7A	OMIM:619453
HP:0000007	Autosomal recessive inheritance	9020	MAP3K14	OMIM:620449
HP:0000007	Autosomal recessive inheritance	9675	TTI1	OMIM:620445
HP:0000007	Autosomal recessive inheritance	5077	PAX3	OMIM:148820
HP:0000007	Autosomal recessive inheritance	7809	BSND	OMIM:602522
HP:0000007	Autosomal recessive inheritance	3155	HMGCL	OMIM:246450
HP:0000007	Autosomal recessive inheritance	2064	ERBB2	OMIM:619465
HP:0000007	Autosomal recessive inheritance	84892	POMGNT2	OMIM:618135
HP:0000007	Autosomal recessive inheritance	84892	POMGNT2	OMIM:614830
HP:0000007	Autosomal recessive inheritance	7161	TP73	OMIM:619466
HP:0000007	Autosomal recessive inheritance	254428	SLC41A1	OMIM:619468
HP:0000007	Autosomal recessive inheritance	127833	SYT2	OMIM:619461
HP:0000007	Autosomal recessive inheritance	146206	CARMIL2	OMIM:618131
HP:0000007	Autosomal recessive inheritance	55340	GIMAP5	OMIM:619463
HP:0000007	Autosomal recessive inheritance	3908	LAMA2	OMIM:618138
HP:0000007	Autosomal recessive inheritance	3908	LAMA2	OMIM:607855
HP:0000007	Autosomal recessive inheritance	9256	TSPOAP1	OMIM:620456
HP:0000007	Autosomal recessive inheritance	9256	TSPOAP1	OMIM:620453
HP:0000007	Autosomal recessive inheritance	6811	STX5	OMIM:620454
HP:0000007	Autosomal recessive inheritance	1974	EIF4A2	OMIM:620455
HP:0000007	Autosomal recessive inheritance	1244	ABCC2	OMIM:237500
HP:0000007	Autosomal recessive inheritance	84065	TMEM222	OMIM:619470
HP:0000007	Autosomal recessive inheritance	24	ABCA4	OMIM:248200
HP:0000007	Autosomal recessive inheritance	24	ABCA4	OMIM:604116
HP:0000007	Autosomal recessive inheritance	24	ABCA4	OMIM:601718
HP:0000007	Autosomal recessive inheritance	10205	MPZL2	OMIM:618145
HP:0000007	Autosomal recessive inheritance	9851	KIAA0753	OMIM:619476
HP:0000007	Autosomal recessive inheritance	9851	KIAA0753	OMIM:619479
HP:0000007	Autosomal recessive inheritance	9851	KIAA0753	OMIM:617127
HP:0000007	Autosomal recessive inheritance	8991	SELENBP1	OMIM:618148
HP:0000007	Autosomal recessive inheritance	10526	IPO8	OMIM:619472
HP:0000007	Autosomal recessive inheritance	348180	CTU2	OMIM:618142
HP:0000007	Autosomal recessive inheritance	94005	PIGS	OMIM:618143
HP:0000007	Autosomal recessive inheritance	55651	NHP2	OMIM:224230
HP:0000007	Autosomal recessive inheritance	55651	NHP2	OMIM:613987
HP:0000007	Autosomal recessive inheritance	22901	ARSG	OMIM:618144
HP:0000007	Autosomal recessive inheritance	4762	NEUROG1	OMIM:620469
HP:0000007	Autosomal recessive inheritance	3257	HPS1	OMIM:203300
HP:0000007	Autosomal recessive inheritance	83706	FERMT3	OMIM:612840
HP:0000007	Autosomal recessive inheritance	9060	PAPSS2	OMIM:612847
HP:0000007	Autosomal recessive inheritance	6050	RNH1	OMIM:620461
HP:0000007	Autosomal recessive inheritance	10486	CAP2	OMIM:620462
HP:0000007	Autosomal recessive inheritance	123264	SLC51B	OMIM:619481
HP:0000007	Autosomal recessive inheritance	283446	MYO1H	OMIM:619482
HP:0000007	Autosomal recessive inheritance	3709	ITPR2	OMIM:106190
HP:0000007	Autosomal recessive inheritance	3636	INPPL1	OMIM:258480
HP:0000007	Autosomal recessive inheritance	2222	FDFT1	OMIM:618156
HP:0000007	Autosomal recessive inheritance	100147744	RNU7-1	OMIM:619487
HP:0000007	Autosomal recessive inheritance	374879	ZNF699	OMIM:619488
HP:0000007	Autosomal recessive inheritance	2692	GHRHR	OMIM:618157
HP:0000007	Autosomal recessive inheritance	60676	PAPPA2	OMIM:619489
HP:0000007	Autosomal recessive inheritance	144406	CFAP251	OMIM:618152
HP:0000007	Autosomal recessive inheritance	10660	LBX1	OMIM:619483
HP:0000007	Autosomal recessive inheritance	401024	FSIP2	OMIM:618153
HP:0000007	Autosomal recessive inheritance	200931	SLC51A	OMIM:619484
HP:0000007	Autosomal recessive inheritance	9508	ADAMTS3	OMIM:618154
HP:0000007	Autosomal recessive inheritance	4617	MYF5	OMIM:618155
HP:0000007	Autosomal recessive inheritance	134353	LSM11	OMIM:619486
HP:0000007	Autosomal recessive inheritance	3557	IL1RN	OMIM:612852
HP:0000007	Autosomal recessive inheritance	7297	TYK2	OMIM:611521
HP:0000007	Autosomal recessive inheritance	54977	SLC25A38	OMIM:205950
HP:0000007	Autosomal recessive inheritance	57038	RARS2	OMIM:611523
HP:0000007	Autosomal recessive inheritance	50485	SMARCAL1	OMIM:242900
HP:0000007	Autosomal recessive inheritance	4645	MYO5B	OMIM:251850
HP:0000007	Autosomal recessive inheritance	4645	MYO5B	OMIM:619868
HP:0000007	Autosomal recessive inheritance	55599	RNPC3	OMIM:618160
HP:0000007	Autosomal recessive inheritance	3766	KCNJ10	OMIM:600791
HP:0000007	Autosomal recessive inheritance	3766	KCNJ10	OMIM:612780
HP:0000007	Autosomal recessive inheritance	3766	KCNJ10	OMIM:274600
HP:0000007	Autosomal recessive inheritance	2299	FOXI1	OMIM:600791
HP:0000007	Autosomal recessive inheritance	2299	FOXI1	OMIM:274600
HP:0000007	Autosomal recessive inheritance	5172	SLC26A4	OMIM:600791
HP:0000007	Autosomal recessive inheritance	5172	SLC26A4	OMIM:274600
HP:0000007	Autosomal recessive inheritance	403	ARL3	OMIM:618161
HP:0000007	Autosomal recessive inheritance	57158	JPH2	OMIM:619492
HP:0000007	Autosomal recessive inheritance	23387	SIK3	OMIM:618162
HP:0000007	Autosomal recessive inheritance	80267	EDEM3	OMIM:619493
HP:0000007	Autosomal recessive inheritance	50515	CHST11	OMIM:618167
HP:0000007	Autosomal recessive inheritance	7482	WNT2B	OMIM:618168
HP:0000007	Autosomal recessive inheritance	4256	MGP	OMIM:245150
HP:0000007	Autosomal recessive inheritance	10117	ENAM	OMIM:204650
HP:0000007	Autosomal recessive inheritance	875	CBS	OMIM:236200
HP:0000007	Autosomal recessive inheritance	283989	TSEN54	OMIM:610204
HP:0000007	Autosomal recessive inheritance	283989	TSEN54	OMIM:277470
HP:0000007	Autosomal recessive inheritance	283989	TSEN54	OMIM:225753
HP:0000007	Autosomal recessive inheritance	5498	PPOX	OMIM:620483
HP:0000007	Autosomal recessive inheritance	5795	PTPRJ	OMIM:620484
HP:0000007	Autosomal recessive inheritance	7066	THPO	OMIM:620481
HP:0000007	Autosomal recessive inheritance	5524	PTPA	OMIM:620482
HP:0000007	Autosomal recessive inheritance	81833	SPACA1	OMIM:620490
HP:0000007	Autosomal recessive inheritance	54936	ADPRS	OMIM:618170
HP:0000007	Autosomal recessive inheritance	23279	NUP160	OMIM:618178
HP:0000007	Autosomal recessive inheritance	79023	NUP37	OMIM:618179
HP:0000007	Autosomal recessive inheritance	118429	ANTXR2	OMIM:228600
HP:0000007	Autosomal recessive inheritance	26119	LDLRAP1	OMIM:603813
HP:0000007	Autosomal recessive inheritance	1496	CTNNA2	OMIM:618174
HP:0000007	Autosomal recessive inheritance	79902	NUP85	OMIM:618176
HP:0000007	Autosomal recessive inheritance	51473	DCDC2	OMIM:610212
HP:0000007	Autosomal recessive inheritance	51473	DCDC2	OMIM:616217
HP:0000007	Autosomal recessive inheritance	51473	DCDC2	OMIM:617394
HP:0000007	Autosomal recessive inheritance	6559	SLC12A3	OMIM:263800
HP:0000007	Autosomal recessive inheritance	1414	CRYBB1	OMIM:611544
HP:0000007	Autosomal recessive inheritance	284111	SLC13A5	OMIM:615905
HP:0000007	Autosomal recessive inheritance	1829	DSG2	OMIM:612877
HP:0000007	Autosomal recessive inheritance	10881	ACTL7A	OMIM:620499
HP:0000007	Autosomal recessive inheritance	2760	GM2A	OMIM:272750
HP:0000007	Autosomal recessive inheritance	85016	CFAP300	OMIM:618063
HP:0000007	Autosomal recessive inheritance	8323	FZD6	OMIM:161050
HP:0000007	Autosomal recessive inheritance	5393	EXOSC9	OMIM:618065
HP:0000007	Autosomal recessive inheritance	27178	IL37	OMIM:619398
HP:0000007	Autosomal recessive inheritance	10312	TCIRG1	OMIM:259700
HP:0000007	Autosomal recessive inheritance	730	C7	OMIM:610102
HP:0000007	Autosomal recessive inheritance	79083	MLPH	OMIM:609227
HP:0000007	Autosomal recessive inheritance	7138	TNNT1	OMIM:620386
HP:0000007	Autosomal recessive inheritance	7138	TNNT1	OMIM:605355
HP:0000007	Autosomal recessive inheritance	5352	PLOD2	OMIM:609220
HP:0000007	Autosomal recessive inheritance	4342	MOS	OMIM:620383
HP:0000007	Autosomal recessive inheritance	2153	F5	OMIM:600880
HP:0000007	Autosomal recessive inheritance	2153	F5	OMIM:227400
HP:0000007	Autosomal recessive inheritance	3717	JAK2	OMIM:600880
HP:0000007	Autosomal recessive inheritance	146167	SLC38A8	OMIM:609218
HP:0000007	Autosomal recessive inheritance	57222	ERGIC1	OMIM:208100
HP:0000007	Autosomal recessive inheritance	51506	UFC1	OMIM:618076
HP:0000007	Autosomal recessive inheritance	8754	ADAM9	OMIM:612775
HP:0000007	Autosomal recessive inheritance	80055	PGAP1	OMIM:615802
HP:0000007	Autosomal recessive inheritance	10978	CLP1	OMIM:615803
HP:0000007	Autosomal recessive inheritance	275	AMT	OMIM:620398
HP:0000007	Autosomal recessive inheritance	271	AMPD2	OMIM:615809
HP:0000007	Autosomal recessive inheritance	271	AMPD2	OMIM:615686
HP:0000007	Autosomal recessive inheritance	1763	DNA2	OMIM:615807
HP:0000007	Autosomal recessive inheritance	1763	DNA2	OMIM:620819
HP:0000007	Autosomal recessive inheritance	7175	TPR	OMIM:620393
HP:0000007	Autosomal recessive inheritance	525	ATP6V1B1	OMIM:267300
HP:0000007	Autosomal recessive inheritance	388698	FLG2	OMIM:618084
HP:0000007	Autosomal recessive inheritance	3043	HBB	OMIM:603903
HP:0000007	Autosomal recessive inheritance	57697	FANCM	OMIM:618086
HP:0000007	Autosomal recessive inheritance	57697	FANCM	OMIM:618096
HP:0000007	Autosomal recessive inheritance	84876	ORAI1	OMIM:612782
HP:0000007	Autosomal recessive inheritance	220074	LRTOMT	OMIM:611451
HP:0000007	Autosomal recessive inheritance	6261	RYR1	OMIM:255320
HP:0000007	Autosomal recessive inheritance	6261	RYR1	OMIM:117000
HP:0000007	Autosomal recessive inheritance	3988	LIPA	OMIM:278000
HP:0000007	Autosomal recessive inheritance	3988	LIPA	OMIM:620151
HP:0000007	Autosomal recessive inheritance	2688	GH1	OMIM:612781
HP:0000007	Autosomal recessive inheritance	2688	GH1	OMIM:262400
HP:0000007	Autosomal recessive inheritance	2688	GH1	OMIM:262650
HP:0000007	Autosomal recessive inheritance	6786	STIM1	OMIM:612783
HP:0000007	Autosomal recessive inheritance	26504	CNNM4	OMIM:217080
HP:0000007	Autosomal recessive inheritance	5238	PGM3	OMIM:615816
HP:0000007	Autosomal recessive inheritance	1509	CTSD	OMIM:610127
HP:0000007	Autosomal recessive inheritance	23325	WASHC4	OMIM:615817
HP:0000007	Autosomal recessive inheritance	2645	GCK	OMIM:606176
HP:0000007	Autosomal recessive inheritance	1690	COCH	OMIM:618094
HP:0000007	Autosomal recessive inheritance	815	CAMK2A	OMIM:618095
HP:0000007	Autosomal recessive inheritance	80856	LNPK	OMIM:618090
HP:0000007	Autosomal recessive inheritance	6691	SPINK2	OMIM:618091
HP:0000007	Autosomal recessive inheritance	7156	TOP3A	OMIM:618097
HP:0000007	Autosomal recessive inheritance	7156	TOP3A	OMIM:618098
HP:0000007	Autosomal recessive inheritance	84300	UQCC2	OMIM:615824
HP:0000007	Autosomal recessive inheritance	113235	SLC46A1	OMIM:229050
HP:0000007	Autosomal recessive inheritance	4607	MYBPC3	OMIM:115197
HP:0000007	Autosomal recessive inheritance	157657	CFAP418	OMIM:614500
HP:0000007	Autosomal recessive inheritance	157657	CFAP418	OMIM:268000
HP:0000007	Autosomal recessive inheritance	157657	CFAP418	OMIM:617406
HP:0000007	Autosomal recessive inheritance	3035	HARS1	OMIM:614504
HP:0000007	Autosomal recessive inheritance	79753	SNIP1	OMIM:614501
HP:0000007	Autosomal recessive inheritance	25977	NECAP1	OMIM:615833
HP:0000007	Autosomal recessive inheritance	90624	LYRM7	OMIM:615838
HP:0000007	Autosomal recessive inheritance	1650	DDOST	OMIM:614507
HP:0000007	Autosomal recessive inheritance	643226	GRXCR2	OMIM:615837
HP:0000007	Autosomal recessive inheritance	80704	SLC19A3	OMIM:607483
HP:0000007	Autosomal recessive inheritance	4036	LRP2	OMIM:222448
HP:0000007	Autosomal recessive inheritance	6875	TAF4B	OMIM:615841
HP:0000007	Autosomal recessive inheritance	84225	ZMYND15	OMIM:615842
HP:0000007	Autosomal recessive inheritance	153562	MARVELD2	OMIM:610153
HP:0000007	Autosomal recessive inheritance	107	ADCY1	OMIM:610154
HP:0000007	Autosomal recessive inheritance	5627	PROS1	OMIM:614514
HP:0000007	Autosomal recessive inheritance	5340	PLG	OMIM:217090
HP:0000007	Autosomal recessive inheritance	1910	EDNRB	OMIM:277580
HP:0000007	Autosomal recessive inheritance	1910	EDNRB	OMIM:600501
HP:0000007	Autosomal recessive inheritance	866	SERPINA6	OMIM:611489
HP:0000007	Autosomal recessive inheritance	2488	FSHB	OMIM:229070
HP:0000007	Autosomal recessive inheritance	1482	NKX2-5	OMIM:217095
HP:0000007	Autosomal recessive inheritance	6899	TBX1	OMIM:217095
HP:0000007	Autosomal recessive inheritance	137814	NKX2-6	OMIM:217095
HP:0000007	Autosomal recessive inheritance	2627	GATA6	OMIM:217095
HP:0000007	Autosomal recessive inheritance	760	CA2	OMIM:259730
HP:0000007	Autosomal recessive inheritance	79001	VKORC1	OMIM:607473
HP:0000007	Autosomal recessive inheritance	8813	DPM1	OMIM:608799
HP:0000007	Autosomal recessive inheritance	132884	EVC2	OMIM:225500
HP:0000007	Autosomal recessive inheritance	2121	EVC	OMIM:225500
HP:0000007	Autosomal recessive inheritance	1186	CLCN7	OMIM:611490
HP:0000007	Autosomal recessive inheritance	9652	SKIC3	OMIM:222470
HP:0000007	Autosomal recessive inheritance	919	CD247	OMIM:610163
HP:0000007	Autosomal recessive inheritance	9842	PLEKHM1	OMIM:611497
HP:0000007	Autosomal recessive inheritance	55275	VPS53	OMIM:615851
HP:0000007	Autosomal recessive inheritance	84662	GLIS2	OMIM:611498
HP:0000007	Autosomal recessive inheritance	1302	COL11A2	OMIM:614524
HP:0000007	Autosomal recessive inheritance	1302	COL11A2	OMIM:215150
HP:0000007	Autosomal recessive inheritance	1302	COL11A2	OMIM:609706
HP:0000007	Autosomal recessive inheritance	85440	DOCK7	OMIM:615859
HP:0000007	Autosomal recessive inheritance	28962	OSTM1	OMIM:259720
HP:0000007	Autosomal recessive inheritance	23093	TTLL5	OMIM:615860
HP:0000007	Autosomal recessive inheritance	8694	DGAT1	OMIM:615863
HP:0000007	Autosomal recessive inheritance	2013	EMP2	OMIM:615861
HP:0000007	Autosomal recessive inheritance	51134	CEP83	OMIM:615862
HP:0000007	Autosomal recessive inheritance	3679	ITGA7	OMIM:613204
HP:0000007	Autosomal recessive inheritance	54704	PDP1	OMIM:608782
HP:0000007	Autosomal recessive inheritance	6524	SLC5A2	OMIM:233100
HP:0000007	Autosomal recessive inheritance	8600	TNFSF11	OMIM:259710
HP:0000007	Autosomal recessive inheritance	6708	SPTA1	OMIM:270970
HP:0000007	Autosomal recessive inheritance	6708	SPTA1	OMIM:266140
HP:0000007	Autosomal recessive inheritance	91949	COG7	OMIM:608779
HP:0000007	Autosomal recessive inheritance	79621	RNASEH2B	OMIM:610181
HP:0000007	Autosomal recessive inheritance	256764	WDR72	OMIM:613211
HP:0000007	Autosomal recessive inheritance	124997	WDR81	OMIM:610185
HP:0000007	Autosomal recessive inheritance	124997	WDR81	OMIM:617967
HP:0000007	Autosomal recessive inheritance	5648	MASP1	OMIM:257920
HP:0000007	Autosomal recessive inheritance	10309	CCNO	OMIM:615872
HP:0000007	Autosomal recessive inheritance	117581	TWIST2	OMIM:227260
HP:0000007	Autosomal recessive inheritance	9414	TJP2	OMIM:615878
HP:0000007	Autosomal recessive inheritance	9414	TJP2	OMIM:607748
HP:0000007	Autosomal recessive inheritance	4072	EPCAM	OMIM:613217
HP:0000007	Autosomal recessive inheritance	4308	TRPM1	OMIM:613216
HP:0000007	Autosomal recessive inheritance	10586	MAB21L2	OMIM:615877
HP:0000007	Autosomal recessive inheritance	79796	ALG9	OMIM:608776
HP:0000007	Autosomal recessive inheritance	79796	ALG9	OMIM:263210
HP:0000007	Autosomal recessive inheritance	3718	JAK3	OMIM:600802
HP:0000007	Autosomal recessive inheritance	7306	TYRP1	OMIM:203290
HP:0000007	Autosomal recessive inheritance	5244	ABCB4	OMIM:600803
HP:0000007	Autosomal recessive inheritance	5244	ABCB4	OMIM:602347
HP:0000007	Autosomal recessive inheritance	5244	ABCB4	OMIM:614972
HP:0000007	Autosomal recessive inheritance	6652	SORD	OMIM:618912
HP:0000007	Autosomal recessive inheritance	131118	DNAJC19	OMIM:610198
HP:0000007	Autosomal recessive inheritance	83479	DDX59	OMIM:174300
HP:0000007	Autosomal recessive inheritance	169792	GLIS3	OMIM:610199
HP:0000007	Autosomal recessive inheritance	57505	AARS2	OMIM:615889
HP:0000007	Autosomal recessive inheritance	57505	AARS2	OMIM:614096
HP:0000007	Autosomal recessive inheritance	2162	F13A1	OMIM:613225
HP:0000007	Autosomal recessive inheritance	50	ACO2	OMIM:614559
HP:0000007	Autosomal recessive inheritance	50	ACO2	OMIM:616289
HP:0000007	Autosomal recessive inheritance	55152	DALRD3	OMIM:618910
HP:0000007	Autosomal recessive inheritance	123041	SLC24A4	OMIM:615887
HP:0000007	Autosomal recessive inheritance	55033	FKBP14	OMIM:614557
HP:0000007	Autosomal recessive inheritance	767	CA8	OMIM:613227
HP:0000007	Autosomal recessive inheritance	10235	RASGRP2	OMIM:615888
HP:0000007	Autosomal recessive inheritance	27235	COQ2	OMIM:607426
HP:0000007	Autosomal recessive inheritance	27235	COQ2	OMIM:146500
HP:0000007	Autosomal recessive inheritance	727676	SNORD118	OMIM:614561
HP:0000007	Autosomal recessive inheritance	440435	GPR179	OMIM:614565
HP:0000007	Autosomal recessive inheritance	1503	CTPS1	OMIM:615897
HP:0000007	Autosomal recessive inheritance	2165	F13B	OMIM:613235
HP:0000007	Autosomal recessive inheritance	10616	RBCK1	OMIM:615895
HP:0000007	Autosomal recessive inheritance	5837	PYGM	OMIM:232600
HP:0000007	Autosomal recessive inheritance	2917	GRM7	OMIM:618922
HP:0000007	Autosomal recessive inheritance	4634	MYL3	OMIM:608751
HP:0000007	Autosomal recessive inheritance	4361	MRE11	OMIM:604391
HP:0000007	Autosomal recessive inheritance	23746	AIPL1	OMIM:604393
HP:0000007	Autosomal recessive inheritance	23746	AIPL1	OMIM:268000
HP:0000007	Autosomal recessive inheritance	55764	IFT122	OMIM:218330
HP:0000007	Autosomal recessive inheritance	717	C2	OMIM:217000
HP:0000007	Autosomal recessive inheritance	51185	CRBN	OMIM:607417
HP:0000007	Autosomal recessive inheritance	3479	IGF1	OMIM:608747
HP:0000007	Autosomal recessive inheritance	57511	COG6	OMIM:614576
HP:0000007	Autosomal recessive inheritance	57511	COG6	OMIM:615328
HP:0000007	Autosomal recessive inheritance	79415	CYBC1	OMIM:618935
HP:0000007	Autosomal recessive inheritance	149461	CLDN19	OMIM:248190
HP:0000007	Autosomal recessive inheritance	5981	RFC1	OMIM:614575
HP:0000007	Autosomal recessive inheritance	29980	DONSON	OMIM:617604
HP:0000007	Autosomal recessive inheritance	29980	DONSON	OMIM:251230
HP:0000007	Autosomal recessive inheritance	9863	MAGI2	OMIM:617609
HP:0000007	Autosomal recessive inheritance	9997	SCO2	OMIM:604377
HP:0000007	Autosomal recessive inheritance	200879	LIPH	OMIM:604379
HP:0000007	Autosomal recessive inheritance	11222	MRPL3	OMIM:614582
HP:0000007	Autosomal recessive inheritance	81689	ISCA1	OMIM:617613
HP:0000007	Autosomal recessive inheritance	2517	FUCA1	OMIM:230000
HP:0000007	Autosomal recessive inheritance	5333	PLCD1	OMIM:151600
HP:0000007	Autosomal recessive inheritance	1861	TOR1A	OMIM:618947
HP:0000007	Autosomal recessive inheritance	199221	DZIP1L	OMIM:617610
HP:0000007	Autosomal recessive inheritance	55329	MNS1	OMIM:618948
HP:0000007	Autosomal recessive inheritance	219285	SAMD9L	OMIM:252270
HP:0000007	Autosomal recessive inheritance	3570	IL6R	OMIM:618944
HP:0000007	Autosomal recessive inheritance	1890	TYMP	OMIM:603041
HP:0000007	Autosomal recessive inheritance	4148	MATN3	OMIM:608728
HP:0000007	Autosomal recessive inheritance	26503	SLC17A5	OMIM:604369
HP:0000007	Autosomal recessive inheritance	26503	SLC17A5	OMIM:269920
HP:0000007	Autosomal recessive inheritance	55617	TASP1	OMIM:618950
HP:0000007	Autosomal recessive inheritance	6182	MRPL12	OMIM:618951
HP:0000007	Autosomal recessive inheritance	1908	EDN3	OMIM:613265
HP:0000007	Autosomal recessive inheritance	3098	HK1	OMIM:235700
HP:0000007	Autosomal recessive inheritance	3098	HK1	OMIM:605285
HP:0000007	Autosomal recessive inheritance	28957	MRPS28	OMIM:618958
HP:0000007	Autosomal recessive inheritance	80210	ARMC9	OMIM:617622
HP:0000007	Autosomal recessive inheritance	4190	MDH1	OMIM:618959
HP:0000007	Autosomal recessive inheritance	51649	MRPS23	OMIM:618952
HP:0000007	Autosomal recessive inheritance	8292	COLQ	OMIM:603034
HP:0000007	Autosomal recessive inheritance	617	BCS1L	OMIM:124000
HP:0000007	Autosomal recessive inheritance	617	BCS1L	OMIM:262000
HP:0000007	Autosomal recessive inheritance	617	BCS1L	OMIM:603358
HP:0000007	Autosomal recessive inheritance	113246	C12orf57	OMIM:218340
HP:0000007	Autosomal recessive inheritance	80208	SPG11	OMIM:604360
HP:0000007	Autosomal recessive inheritance	80208	SPG11	OMIM:602099
HP:0000007	Autosomal recessive inheritance	80208	SPG11	OMIM:616668
HP:0000007	Autosomal recessive inheritance	259266	ASPM	OMIM:608716
HP:0000007	Autosomal recessive inheritance	5331	PLCB3	OMIM:618961
HP:0000007	Autosomal recessive inheritance	7515	XRCC1	OMIM:617633
HP:0000007	Autosomal recessive inheritance	23558	WBP2	OMIM:617639
HP:0000007	Autosomal recessive inheritance	3458	IFNG	OMIM:618963
HP:0000007	Autosomal recessive inheritance	57728	WDR19	OMIM:616307
HP:0000007	Autosomal recessive inheritance	57728	WDR19	OMIM:614378
HP:0000007	Autosomal recessive inheritance	57728	WDR19	OMIM:614376
HP:0000007	Autosomal recessive inheritance	57728	WDR19	OMIM:614377
HP:0000007	Autosomal recessive inheritance	57728	WDR19	OMIM:619867
HP:0000007	Autosomal recessive inheritance	64787	EPS8L2	OMIM:617637
HP:0000007	Autosomal recessive inheritance	5205	ATP8B1	OMIM:243300
HP:0000007	Autosomal recessive inheritance	5205	ATP8B1	OMIM:211600
HP:0000007	Autosomal recessive inheritance	1832	DSP	OMIM:605676
HP:0000007	Autosomal recessive inheritance	1832	DSP	OMIM:609638
HP:0000007	Autosomal recessive inheritance	9699	RIMS2	OMIM:618970
HP:0000007	Autosomal recessive inheritance	55532	SLC30A10	OMIM:613280
HP:0000007	Autosomal recessive inheritance	1468	SLC25A10	OMIM:618972
HP:0000007	Autosomal recessive inheritance	8884	SLC5A6	OMIM:618973
HP:0000007	Autosomal recessive inheritance	8884	SLC5A6	OMIM:619903
HP:0000007	Autosomal recessive inheritance	23288	IQCE	OMIM:617642
HP:0000007	Autosomal recessive inheritance	389207	GRXCR1	OMIM:613285
HP:0000007	Autosomal recessive inheritance	1140	CHRNB1	OMIM:616314
HP:0000007	Autosomal recessive inheritance	676	BRDT	OMIM:617644
HP:0000007	Autosomal recessive inheritance	3778	KCNMA1	OMIM:617643
HP:0000007	Autosomal recessive inheritance	4654	MYOD1	OMIM:618975
HP:0000007	Autosomal recessive inheritance	1409	CRYAA	OMIM:604219
HP:0000007	Autosomal recessive inheritance	29899	GPSM2	OMIM:604213
HP:0000007	Autosomal recessive inheritance	104	ADARB1	OMIM:618862
HP:0000007	Autosomal recessive inheritance	91452	ACBD5	OMIM:618863
HP:0000007	Autosomal recessive inheritance	151648	SGO1	OMIM:616201
HP:0000007	Autosomal recessive inheritance	50651	SLC45A1	OMIM:617532
HP:0000007	Autosomal recessive inheritance	83932	SPRTN	OMIM:616200
HP:0000007	Autosomal recessive inheritance	8029	CUBN	OMIM:261100
HP:0000007	Autosomal recessive inheritance	8029	CUBN	OMIM:618884
HP:0000007	Autosomal recessive inheritance	23446	SLC44A1	OMIM:618868
HP:0000007	Autosomal recessive inheritance	2895	GRID2	OMIM:616204
HP:0000007	Autosomal recessive inheritance	8425	LTBP4	OMIM:613177
HP:0000007	Autosomal recessive inheritance	2972	BRF1	OMIM:616202
HP:0000007	Autosomal recessive inheritance	4860	PNP	OMIM:613179
HP:0000007	Autosomal recessive inheritance	64220	STRA6	OMIM:601186
HP:0000007	Autosomal recessive inheritance	249	ALPL	OMIM:241500
HP:0000007	Autosomal recessive inheritance	249	ALPL	OMIM:241510
HP:0000007	Autosomal recessive inheritance	249	ALPL	OMIM:146300
HP:0000007	Autosomal recessive inheritance	10300	KATNB1	OMIM:616212
HP:0000007	Autosomal recessive inheritance	51741	WWOX	OMIM:616211
HP:0000007	Autosomal recessive inheritance	51741	WWOX	OMIM:614322
HP:0000007	Autosomal recessive inheritance	1630	DCC	OMIM:617542
HP:0000007	Autosomal recessive inheritance	55790	CSGALNACT1	OMIM:618870
HP:0000007	Autosomal recessive inheritance	1723	DHODH	OMIM:263750
HP:0000007	Autosomal recessive inheritance	755	CFAP410	OMIM:617547
HP:0000007	Autosomal recessive inheritance	755	CFAP410	OMIM:602271
HP:0000007	Autosomal recessive inheritance	10026	PIGK	OMIM:618879
HP:0000007	Autosomal recessive inheritance	375387	NRROS	OMIM:618875
HP:0000007	Autosomal recessive inheritance	472	ATM	OMIM:208900
HP:0000007	Autosomal recessive inheritance	84570	COL25A1	OMIM:616219
HP:0000007	Autosomal recessive inheritance	1476	CSTB	OMIM:254800
HP:0000007	Autosomal recessive inheritance	64175	P3H1	OMIM:610915
HP:0000007	Autosomal recessive inheritance	220202	ATOH7	OMIM:221900
HP:0000007	Autosomal recessive inheritance	9289	ADGRG1	OMIM:606854
HP:0000007	Autosomal recessive inheritance	9289	ADGRG1	OMIM:615752
HP:0000007	Autosomal recessive inheritance	81693	AMN	OMIM:618882
HP:0000007	Autosomal recessive inheritance	83696	TRAPPC9	OMIM:613192
HP:0000007	Autosomal recessive inheritance	9247	GCM2	OMIM:618883
HP:0000007	Autosomal recessive inheritance	2590	GALNT2	OMIM:618885
HP:0000007	Autosomal recessive inheritance	123872	DNAAF1	OMIM:613193
HP:0000007	Autosomal recessive inheritance	170691	ADAMTS17	OMIM:613195
HP:0000007	Autosomal recessive inheritance	3694	ITGB6	OMIM:616221
HP:0000007	Autosomal recessive inheritance	130589	GALM	OMIM:618881
HP:0000007	Autosomal recessive inheritance	199857	ALG14	OMIM:616227
HP:0000007	Autosomal recessive inheritance	199857	ALG14	OMIM:619031
HP:0000007	Autosomal recessive inheritance	199857	ALG14	OMIM:619036
HP:0000007	Autosomal recessive inheritance	9581	PREPL	OMIM:616224
HP:0000007	Autosomal recessive inheritance	6773	STAT2	OMIM:618886
HP:0000007	Autosomal recessive inheritance	6773	STAT2	OMIM:616636
HP:0000007	Autosomal recessive inheritance	90993	CREB3L1	OMIM:616229
HP:0000007	Autosomal recessive inheritance	23761	PISD	OMIM:618889
HP:0000007	Autosomal recessive inheritance	85365	ALG2	OMIM:616228
HP:0000007	Autosomal recessive inheritance	85365	ALG2	OMIM:607906
HP:0000007	Autosomal recessive inheritance	21	ABCA3	OMIM:610921
HP:0000007	Autosomal recessive inheritance	157680	VPS13B	OMIM:216550
HP:0000007	Autosomal recessive inheritance	958	CD40	OMIM:606843
HP:0000007	Autosomal recessive inheritance	10715	CERS1	OMIM:616230
HP:0000007	Autosomal recessive inheritance	84504	NKX6-2	OMIM:617560
HP:0000007	Autosomal recessive inheritance	26284	ERAL1	OMIM:617565
HP:0000007	Autosomal recessive inheritance	1301	COL11A1	OMIM:228520
HP:0000007	Autosomal recessive inheritance	4174	MCM5	OMIM:617564
HP:0000007	Autosomal recessive inheritance	25930	PTPN23	OMIM:618890
HP:0000007	Autosomal recessive inheritance	84314	TMEM107	OMIM:617563
HP:0000007	Autosomal recessive inheritance	84314	TMEM107	OMIM:617562
HP:0000007	Autosomal recessive inheritance	833	CARS1	OMIM:618891
HP:0000007	Autosomal recessive inheritance	1371	CPOX	OMIM:618892
HP:0000007	Autosomal recessive inheritance	285025	CCDC141	OMIM:146110
HP:0000007	Autosomal recessive inheritance	9723	SEMA3E	OMIM:146110
HP:0000007	Autosomal recessive inheritance	10011	SRA1	OMIM:146110
HP:0000007	Autosomal recessive inheritance	2796	GNRH1	OMIM:146110
HP:0000007	Autosomal recessive inheritance	2796	GNRH1	OMIM:614841
HP:0000007	Autosomal recessive inheritance	81848	SPRY4	OMIM:146110
HP:0000007	Autosomal recessive inheritance	389549	FEZF1	OMIM:146110
HP:0000007	Autosomal recessive inheritance	389549	FEZF1	OMIM:616030
HP:0000007	Autosomal recessive inheritance	55717	WDR11	OMIM:146110
HP:0000007	Autosomal recessive inheritance	55717	WDR11	OMIM:620237
HP:0000007	Autosomal recessive inheritance	8822	FGF17	OMIM:146110
HP:0000007	Autosomal recessive inheritance	558	AXL	OMIM:146110
HP:0000007	Autosomal recessive inheritance	1848	DUSP6	OMIM:146110
HP:0000007	Autosomal recessive inheritance	2798	GNRHR	OMIM:146110
HP:0000007	Autosomal recessive inheritance	10861	SLC26A1	OMIM:167030
HP:0000007	Autosomal recessive inheritance	10861	SLC26A1	OMIM:620372
HP:0000007	Autosomal recessive inheritance	54840	APTX	OMIM:208920
HP:0000007	Autosomal recessive inheritance	79731	NARS2	OMIM:616239
HP:0000007	Autosomal recessive inheritance	79731	NARS2	OMIM:618434
HP:0000007	Autosomal recessive inheritance	1789	DNMT3B	OMIM:242860
HP:0000007	Autosomal recessive inheritance	729230	CCR2	OMIM:219600
HP:0000007	Autosomal recessive inheritance	6820	SULT2B1	OMIM:617571
HP:0000007	Autosomal recessive inheritance	25981	DNAH1	OMIM:617576
HP:0000007	Autosomal recessive inheritance	25981	DNAH1	OMIM:617577
HP:0000007	Autosomal recessive inheritance	8879	SGPL1	OMIM:617575
HP:0000007	Autosomal recessive inheritance	142680	SLC34A3	OMIM:241530
HP:0000007	Autosomal recessive inheritance	23461	ABCA5	OMIM:135400
HP:0000007	Autosomal recessive inheritance	121214	SDR9C7	OMIM:617574
HP:0000007	Autosomal recessive inheritance	100128927	ZBTB42	OMIM:616248
HP:0000007	Autosomal recessive inheritance	1075	CTSC	OMIM:170650
HP:0000007	Autosomal recessive inheritance	1075	CTSC	OMIM:245010
HP:0000007	Autosomal recessive inheritance	1075	CTSC	OMIM:245000
HP:0000007	Autosomal recessive inheritance	23474	ETHE1	OMIM:602473
HP:0000007	Autosomal recessive inheritance	145258	GSC	OMIM:602471
HP:0000007	Autosomal recessive inheritance	6523	SLC5A1	OMIM:606824
HP:0000007	Autosomal recessive inheritance	3931	LCAT	OMIM:245900
HP:0000007	Autosomal recessive inheritance	3931	LCAT	OMIM:136120
HP:0000007	Autosomal recessive inheritance	5971	RELB	OMIM:617585
HP:0000007	Autosomal recessive inheritance	9474	ATG5	OMIM:617584
HP:0000007	Autosomal recessive inheritance	9928	KIF14	OMIM:616258
HP:0000007	Autosomal recessive inheritance	9928	KIF14	OMIM:617914
HP:0000007	Autosomal recessive inheritance	256471	MFSD8	OMIM:610951
HP:0000007	Autosomal recessive inheritance	256471	MFSD8	OMIM:616170
HP:0000007	Autosomal recessive inheritance	2271	FH	OMIM:606812
HP:0000007	Autosomal recessive inheritance	57724	EPG5	OMIM:242840
HP:0000007	Autosomal recessive inheritance	51651	PTRH2	OMIM:616263
HP:0000007	Autosomal recessive inheritance	55779	CFAP44	OMIM:617593
HP:0000007	Autosomal recessive inheritance	80217	CFAP43	OMIM:617592
HP:0000007	Autosomal recessive inheritance	5692	PSMB4	OMIM:617591
HP:0000007	Autosomal recessive inheritance	9319	TRIP13	OMIM:617598
HP:0000007	Autosomal recessive inheritance	9319	TRIP13	OMIM:619011
HP:0000007	Autosomal recessive inheritance	2954	GSTZ1	OMIM:617596
HP:0000007	Autosomal recessive inheritance	10463	SLC30A9	OMIM:617595
HP:0000007	Autosomal recessive inheritance	388662	SLC6A17	OMIM:616269
HP:0000007	Autosomal recessive inheritance	51227	PIGP	OMIM:617599
HP:0000007	Autosomal recessive inheritance	64421	DCLRE1C	OMIM:602450
HP:0000007	Autosomal recessive inheritance	64421	DCLRE1C	OMIM:603554
HP:0000007	Autosomal recessive inheritance	6528	SLC5A5	OMIM:274400
HP:0000007	Autosomal recessive inheritance	10195	ALG3	OMIM:601110
HP:0000007	Autosomal recessive inheritance	257	ALX3	OMIM:136760
HP:0000007	Autosomal recessive inheritance	258	AMBN	OMIM:616270
HP:0000007	Autosomal recessive inheritance	1749	DLX5	OMIM:220600
HP:0000007	Autosomal recessive inheritance	51645	PPIL1	OMIM:619301
HP:0000007	Autosomal recessive inheritance	51362	CDC40	OMIM:619302
HP:0000007	Autosomal recessive inheritance	81570	CLPB	OMIM:616271
HP:0000007	Autosomal recessive inheritance	5825	ABCD3	OMIM:616278
HP:0000007	Autosomal recessive inheritance	1758	DMP1	OMIM:241520
HP:0000007	Autosomal recessive inheritance	1892	ECHS1	OMIM:616277
HP:0000007	Autosomal recessive inheritance	51013	EXOSC1	OMIM:619304
HP:0000007	Autosomal recessive inheritance	55770	EXOC2	OMIM:619306
HP:0000007	Autosomal recessive inheritance	846	CASR	OMIM:239200
HP:0000007	Autosomal recessive inheritance	83893	SPATA16	OMIM:102530
HP:0000007	Autosomal recessive inheritance	84706	GPT2	OMIM:616281
HP:0000007	Autosomal recessive inheritance	4547	MTTP	OMIM:200100
HP:0000007	Autosomal recessive inheritance	55388	MCM10	OMIM:619313
HP:0000007	Autosomal recessive inheritance	3691	ITGB4	OMIM:226730
HP:0000007	Autosomal recessive inheritance	3691	ITGB4	OMIM:619816
HP:0000007	Autosomal recessive inheritance	5351	PLOD1	OMIM:225400
HP:0000007	Autosomal recessive inheritance	112	ADCY6	OMIM:616287
HP:0000007	Autosomal recessive inheritance	51728	POLR3K	OMIM:619310
HP:0000007	Autosomal recessive inheritance	1317	SLC31A1	OMIM:620306
HP:0000007	Autosomal recessive inheritance	85476	GFM1	OMIM:609060
HP:0000007	Autosomal recessive inheritance	6091	ROBO1	OMIM:620305
HP:0000007	Autosomal recessive inheritance	6091	ROBO1	OMIM:257400
HP:0000007	Autosomal recessive inheritance	6650	CAPN15	OMIM:619318
HP:0000007	Autosomal recessive inheritance	3426	CFI	OMIM:610984
HP:0000007	Autosomal recessive inheritance	3032	HADHB	OMIM:620300
HP:0000007	Autosomal recessive inheritance	6548	SLC9A1	OMIM:616291
HP:0000007	Autosomal recessive inheritance	831	CAST	OMIM:616295
HP:0000007	Autosomal recessive inheritance	23102	TBC1D2B	OMIM:619323
HP:0000007	Autosomal recessive inheritance	9871	SEC24D	OMIM:616294
HP:0000007	Autosomal recessive inheritance	51601	LIPT1	OMIM:616299
HP:0000007	Autosomal recessive inheritance	8882	ZPR1	OMIM:619321
HP:0000007	Autosomal recessive inheritance	55215	FANCI	OMIM:609053
HP:0000007	Autosomal recessive inheritance	402569	KPNA7	OMIM:620319
HP:0000007	Autosomal recessive inheritance	83990	BRIP1	OMIM:609054
HP:0000007	Autosomal recessive inheritance	7453	WARS1	OMIM:620317
HP:0000007	Autosomal recessive inheritance	1363	CPE	OMIM:619326
HP:0000007	Autosomal recessive inheritance	8893	EIF2B5	OMIM:620315
HP:0000007	Autosomal recessive inheritance	29968	PSAT1	OMIM:610992
HP:0000007	Autosomal recessive inheritance	29968	PSAT1	OMIM:616038
HP:0000007	Autosomal recessive inheritance	157922	CAMSAP1	OMIM:620316
HP:0000007	Autosomal recessive inheritance	8891	EIF2B3	OMIM:620313
HP:0000007	Autosomal recessive inheritance	8890	EIF2B4	OMIM:620314
HP:0000007	Autosomal recessive inheritance	8892	EIF2B2	OMIM:620312
HP:0000007	Autosomal recessive inheritance	6263	RYR3	OMIM:620310
HP:0000007	Autosomal recessive inheritance	977	CD151	OMIM:609057
HP:0000007	Autosomal recessive inheritance	8869	ST3GAL5	OMIM:609056
HP:0000007	Autosomal recessive inheritance	4166	CHST6	OMIM:217800
HP:0000007	Autosomal recessive inheritance	25929	GEMIN5	OMIM:619333
HP:0000007	Autosomal recessive inheritance	4703	NEB	OMIM:619334
HP:0000007	Autosomal recessive inheritance	4703	NEB	OMIM:256030
HP:0000007	Autosomal recessive inheritance	2530	FUT8	OMIM:618005
HP:0000007	Autosomal recessive inheritance	34	ACADM	OMIM:201450
HP:0000007	Autosomal recessive inheritance	79641	ROGDI	OMIM:226750
HP:0000007	Autosomal recessive inheritance	165	AEBP1	OMIM:618000
HP:0000007	Autosomal recessive inheritance	10082	GPC6	OMIM:258315
HP:0000007	Autosomal recessive inheritance	11080	DNAJB4	OMIM:620326
HP:0000007	Autosomal recessive inheritance	7965	AIMP2	OMIM:618006
HP:0000007	Autosomal recessive inheritance	400569	MED11	OMIM:620327
HP:0000007	Autosomal recessive inheritance	1147	CHUK	OMIM:619339
HP:0000007	Autosomal recessive inheritance	1147	CHUK	OMIM:613630
HP:0000007	Autosomal recessive inheritance	714	C1QC	OMIM:620322
HP:0000007	Autosomal recessive inheritance	10157	AASS	OMIM:238700
HP:0000007	Autosomal recessive inheritance	3913	LAMB2	OMIM:609049
HP:0000007	Autosomal recessive inheritance	3913	LAMB2	OMIM:614199
HP:0000007	Autosomal recessive inheritance	6491	STIL	OMIM:612703
HP:0000007	Autosomal recessive inheritance	713	C1QB	OMIM:620321
HP:0000007	Autosomal recessive inheritance	6768	ST14	OMIM:602400
HP:0000007	Autosomal recessive inheritance	9509	ADAMTS2	OMIM:225410
HP:0000007	Autosomal recessive inheritance	54845	ESRP1	OMIM:618013
HP:0000007	Autosomal recessive inheritance	26276	VPS33B	OMIM:208085
HP:0000007	Autosomal recessive inheritance	26276	VPS33B	OMIM:620009
HP:0000007	Autosomal recessive inheritance	26276	VPS33B	OMIM:620010
HP:0000007	Autosomal recessive inheritance	2661	GDF9	OMIM:618014
HP:0000007	Autosomal recessive inheritance	26175	LYSET	OMIM:619345
HP:0000007	Autosomal recessive inheritance	5283	PIGH	OMIM:618010
HP:0000007	Autosomal recessive inheritance	84896	ATAD1	OMIM:618011
HP:0000007	Autosomal recessive inheritance	79644	SRD5A3	OMIM:612713
HP:0000007	Autosomal recessive inheritance	79644	SRD5A3	OMIM:612379
HP:0000007	Autosomal recessive inheritance	126206	NLRP5	OMIM:620333
HP:0000007	Autosomal recessive inheritance	145226	RDH12	OMIM:612712
HP:0000007	Autosomal recessive inheritance	91039	DPP9	OMIM:620331
HP:0000007	Autosomal recessive inheritance	84701	COX4I2	OMIM:612714
HP:0000007	Autosomal recessive inheritance	55655	NLRP2	OMIM:620332
HP:0000007	Autosomal recessive inheritance	6697	SPR	OMIM:612716
HP:0000007	Autosomal recessive inheritance	28982	FLVCR1	OMIM:609033
HP:0000007	Autosomal recessive inheritance	2628	GATM	OMIM:612718
HP:0000007	Autosomal recessive inheritance	51241	COX16	OMIM:619355
HP:0000007	Autosomal recessive inheritance	3795	KHK	OMIM:229800
HP:0000007	Autosomal recessive inheritance	37	ACADVL	OMIM:201475
HP:0000007	Autosomal recessive inheritance	5281	PIGF	OMIM:619356
HP:0000007	Autosomal recessive inheritance	4629	MYH11	OMIM:619351
HP:0000007	Autosomal recessive inheritance	340419	RSPO2	OMIM:618021
HP:0000007	Autosomal recessive inheritance	340419	RSPO2	OMIM:618022
HP:0000007	Autosomal recessive inheritance	35	ACADS	OMIM:201470
HP:0000007	Autosomal recessive inheritance	5702	PSMC3	OMIM:619354
HP:0000007	Autosomal recessive inheritance	788	SLC25A20	OMIM:212138
HP:0000007	Autosomal recessive inheritance	5019	OXCT1	OMIM:245050
HP:0000007	Autosomal recessive inheritance	10283	CWC27	OMIM:250410
HP:0000007	Autosomal recessive inheritance	388531	RGS9BP	OMIM:620344
HP:0000007	Autosomal recessive inheritance	10483	SEC23B	OMIM:224100
HP:0000007	Autosomal recessive inheritance	285590	SH3PXD2B	OMIM:249420
HP:0000007	Autosomal recessive inheritance	25802	LMOD1	OMIM:619362
HP:0000007	Autosomal recessive inheritance	23230	VPS13A	OMIM:200150
HP:0000007	Autosomal recessive inheritance	10398	MYL9	OMIM:619365
HP:0000007	Autosomal recessive inheritance	539	ATP5PO	OMIM:620359
HP:0000007	Autosomal recessive inheritance	51703	ACSL5	OMIM:620357
HP:0000007	Autosomal recessive inheritance	56171	DNAH7	OMIM:620356
HP:0000007	Autosomal recessive inheritance	3030	HADHA	OMIM:609015
HP:0000007	Autosomal recessive inheritance	3030	HADHA	OMIM:609016
HP:0000007	Autosomal recessive inheritance	10566	AKAP3	OMIM:620353
HP:0000007	Autosomal recessive inheritance	2593	GAMT	OMIM:612736
HP:0000007	Autosomal recessive inheritance	4322	MMP13	OMIM:250400
HP:0000007	Autosomal recessive inheritance	7802	DNALI1	OMIM:620354
HP:0000007	Autosomal recessive inheritance	6329	SCN4A	OMIM:620351
HP:0000007	Autosomal recessive inheritance	6329	SCN4A	OMIM:620369
HP:0000007	Autosomal recessive inheritance	6329	SCN4A	OMIM:614198
HP:0000007	Autosomal recessive inheritance	1759	DNM1	OMIM:620352
HP:0000007	Autosomal recessive inheritance	6123	RPL3L	OMIM:619371
HP:0000007	Autosomal recessive inheritance	3554	IL1R1	OMIM:259680
HP:0000007	Autosomal recessive inheritance	55898	UNC45A	OMIM:619377
HP:0000007	Autosomal recessive inheritance	7390	UROS	OMIM:263700
HP:0000007	Autosomal recessive inheritance	375307	CATIP	OMIM:619379
HP:0000007	Autosomal recessive inheritance	6571	SLC18A2	OMIM:618049
HP:0000007	Autosomal recessive inheritance	3937	LCP2	OMIM:619374
HP:0000007	Autosomal recessive inheritance	210	ALAD	OMIM:612740
HP:0000007	Autosomal recessive inheritance	4157	MC1R	OMIM:203200
HP:0000007	Autosomal recessive inheritance	4948	OCA2	OMIM:203200
HP:0000007	Autosomal recessive inheritance	25913	POT1	OMIM:620368
HP:0000007	Autosomal recessive inheritance	83715	ESPN	OMIM:609006
HP:0000007	Autosomal recessive inheritance	83715	ESPN	OMIM:618632
HP:0000007	Autosomal recessive inheritance	6522	SLC4A2	OMIM:620366
HP:0000007	Autosomal recessive inheritance	2683	B4GALT1	OMIM:620364
HP:0000007	Autosomal recessive inheritance	2683	B4GALT1	OMIM:607091
HP:0000007	Autosomal recessive inheritance	200162	SPAG17	OMIM:619380
HP:0000007	Autosomal recessive inheritance	5965	RECQL	OMIM:620370
HP:0000007	Autosomal recessive inheritance	84277	DNAJC30	OMIM:619382
HP:0000007	Autosomal recessive inheritance	57538	ALPK3	OMIM:618052
HP:0000007	Autosomal recessive inheritance	129285	PPP1R21	OMIM:619383
HP:0000007	Autosomal recessive inheritance	6913	TBX15	OMIM:260660
HP:0000007	Autosomal recessive inheritance	27072	VPS41	OMIM:619389
HP:0000007	Autosomal recessive inheritance	341208	HEPHL1	OMIM:261990
HP:0000007	Autosomal recessive inheritance	9054	NFS1	OMIM:619386
HP:0000007	Autosomal recessive inheritance	146059	CDAN1	OMIM:224120
HP:0000007	Autosomal recessive inheritance	221927	BRAT1	OMIM:618056
HP:0000007	Autosomal recessive inheritance	221927	BRAT1	OMIM:614498
HP:0000007	Autosomal recessive inheritance	267	AMFR	OMIM:620379
HP:0000007	Autosomal recessive inheritance	3156	HMGCR	OMIM:620375
HP:0000007	Autosomal recessive inheritance	90952	ESAM	OMIM:620371
HP:0000007	Autosomal recessive inheritance	6584	SLC22A5	OMIM:212140
HP:0000007	Autosomal recessive inheritance	4702	NDUFA8	OMIM:619272
HP:0000007	Autosomal recessive inheritance	158	ADSL	OMIM:103050
HP:0000007	Autosomal recessive inheritance	81555	YIPF5	OMIM:619278
HP:0000007	Autosomal recessive inheritance	10804	GJB6	OMIM:612645
HP:0000007	Autosomal recessive inheritance	10804	GJB6	OMIM:220290
HP:0000007	Autosomal recessive inheritance	347734	SLC35B2	OMIM:620269
HP:0000007	Autosomal recessive inheritance	345895	RSPH4A	OMIM:612649
HP:0000007	Autosomal recessive inheritance	4758	NEU1	OMIM:256550
HP:0000007	Autosomal recessive inheritance	9690	UBE3C	OMIM:620270
HP:0000007	Autosomal recessive inheritance	374654	KIF7	OMIM:200990
HP:0000007	Autosomal recessive inheritance	374654	KIF7	OMIM:607131
HP:0000007	Autosomal recessive inheritance	374654	KIF7	OMIM:614120
HP:0000007	Autosomal recessive inheritance	9442	MED27	OMIM:619286
HP:0000007	Autosomal recessive inheritance	221421	RSPH9	OMIM:612650
HP:0000007	Autosomal recessive inheritance	5176	SERPINF1	OMIM:613982
HP:0000007	Autosomal recessive inheritance	22858	CILK1	OMIM:612651
HP:0000007	Autosomal recessive inheritance	84140	FAM161A	OMIM:606068
HP:0000007	Autosomal recessive inheritance	56246	MRAP	OMIM:607398
HP:0000007	Autosomal recessive inheritance	55135	WRAP53	OMIM:613988
HP:0000007	Autosomal recessive inheritance	991	CDC20	OMIM:620276
HP:0000007	Autosomal recessive inheritance	7015	TERT	OMIM:613989
HP:0000007	Autosomal recessive inheritance	64518	TEKT3	OMIM:620277
HP:0000007	Autosomal recessive inheritance	5476	CTSA	OMIM:256540
HP:0000007	Autosomal recessive inheritance	1353	COX11	OMIM:620275
HP:0000007	Autosomal recessive inheritance	3604	TNFRSF9	OMIM:620282
HP:0000007	Autosomal recessive inheritance	51324	SPG21	OMIM:248900
HP:0000007	Autosomal recessive inheritance	2533	FYB1	OMIM:273900
HP:0000007	Autosomal recessive inheritance	2642	GCGR	OMIM:619290
HP:0000007	Autosomal recessive inheritance	274	BIN1	OMIM:255200
HP:0000007	Autosomal recessive inheritance	36	ACADSB	OMIM:610006
HP:0000007	Autosomal recessive inheritance	7841	MOGS	OMIM:606056
HP:0000007	Autosomal recessive inheritance	5095	PCCA	OMIM:606054
HP:0000007	Autosomal recessive inheritance	5096	PCCB	OMIM:606054
HP:0000007	Autosomal recessive inheritance	7466	WFS1	OMIM:222300
HP:0000007	Autosomal recessive inheritance	26090	ABHD12	OMIM:612674
HP:0000007	Autosomal recessive inheritance	84984	CEP19	OMIM:615703
HP:0000007	Autosomal recessive inheritance	4338	MOCS2	OMIM:252160
HP:0000007	Autosomal recessive inheritance	2752	GLUL	OMIM:610015
HP:0000007	Autosomal recessive inheritance	1906	EDN1	OMIM:615706
HP:0000007	Autosomal recessive inheritance	2214	FCGR3A	OMIM:615707
HP:0000007	Autosomal recessive inheritance	79443	FYCO1	OMIM:610019
HP:0000007	Autosomal recessive inheritance	9711	RUBCN	OMIM:615705
HP:0000007	Autosomal recessive inheritance	23129	PLXND1	OMIM:620294
HP:0000007	Autosomal recessive inheritance	26227	PHGDH	OMIM:256520
HP:0000007	Autosomal recessive inheritance	26227	PHGDH	OMIM:601815
HP:0000007	Autosomal recessive inheritance	6862	TBXT	OMIM:615709
HP:0000007	Autosomal recessive inheritance	2677	GGCX	OMIM:277450
HP:0000007	Autosomal recessive inheritance	2677	GGCX	OMIM:610842
HP:0000007	Autosomal recessive inheritance	222546	RFX6	OMIM:615710
HP:0000007	Autosomal recessive inheritance	9255	AIMP1	OMIM:260600
HP:0000007	Autosomal recessive inheritance	5149	PDE6H	OMIM:610024
HP:0000007	Autosomal recessive inheritance	375748	ERCC6L2	OMIM:615715
HP:0000007	Autosomal recessive inheritance	93210	PGAP3	OMIM:615716
HP:0000007	Autosomal recessive inheritance	1188	CLCNKB	OMIM:607364
HP:0000007	Autosomal recessive inheritance	728294	D2HGDH	OMIM:600721
HP:0000007	Autosomal recessive inheritance	9095	TBX19	OMIM:201400
HP:0000007	Autosomal recessive inheritance	2038	EPB42	OMIM:612690
HP:0000007	Autosomal recessive inheritance	974	CD79B	OMIM:612692
HP:0000007	Autosomal recessive inheritance	26281	FGF20	OMIM:615721
HP:0000007	Autosomal recessive inheritance	164045	HFM1	OMIM:615724
HP:0000007	Autosomal recessive inheritance	57709	SLC7A14	OMIM:615725
HP:0000007	Autosomal recessive inheritance	1811	SLC26A3	OMIM:214700
HP:0000007	Autosomal recessive inheritance	23396	PIP5K1C	OMIM:611369
HP:0000007	Autosomal recessive inheritance	7274	TTPA	OMIM:277460
HP:0000007	Autosomal recessive inheritance	471	ATIC	OMIM:608688
HP:0000007	Autosomal recessive inheritance	81031	SLC2A10	OMIM:208050
HP:0000007	Autosomal recessive inheritance	10324	KLHL41	OMIM:615731
HP:0000007	Autosomal recessive inheritance	26047	CNTNAP2	OMIM:610042
HP:0000007	Autosomal recessive inheritance	5885	RAD21	OMIM:611376
HP:0000007	Autosomal recessive inheritance	11023	VAX1	OMIM:614402
HP:0000007	Autosomal recessive inheritance	57704	GBA2	OMIM:614409
HP:0000007	Autosomal recessive inheritance	710	SERPING1	OMIM:106100
HP:0000007	Autosomal recessive inheritance	4313	MMP2	OMIM:259600
HP:0000007	Autosomal recessive inheritance	285440	CYP4V2	OMIM:210370
HP:0000007	Autosomal recessive inheritance	3918	LAMC2	OMIM:226700
HP:0000007	Autosomal recessive inheritance	3918	LAMC2	OMIM:619785
HP:0000007	Autosomal recessive inheritance	3918	LAMC2	OMIM:619786
HP:0000007	Autosomal recessive inheritance	25861	WHRN	OMIM:611383
HP:0000007	Autosomal recessive inheritance	25861	WHRN	OMIM:607084
HP:0000007	Autosomal recessive inheritance	56603	CYP26B1	OMIM:614416
HP:0000007	Autosomal recessive inheritance	7450	VWF	OMIM:277480
HP:0000007	Autosomal recessive inheritance	7450	VWF	OMIM:613554
HP:0000007	Autosomal recessive inheritance	4878	NPPA	OMIM:615745
HP:0000007	Autosomal recessive inheritance	23064	SETX	OMIM:606002
HP:0000007	Autosomal recessive inheritance	57094	CPA6	OMIM:614417
HP:0000007	Autosomal recessive inheritance	57094	CPA6	OMIM:614418
HP:0000007	Autosomal recessive inheritance	6888	TALDO1	OMIM:606003
HP:0000007	Autosomal recessive inheritance	6309	SC5D	OMIM:607330
HP:0000007	Autosomal recessive inheritance	54808	DYM	OMIM:607326
HP:0000007	Autosomal recessive inheritance	54808	DYM	OMIM:223800
HP:0000007	Autosomal recessive inheritance	2982	GUCY1A1	OMIM:615750
HP:0000007	Autosomal recessive inheritance	631	BFSP1	OMIM:611391
HP:0000007	Autosomal recessive inheritance	1356	CP	OMIM:604290
HP:0000007	Autosomal recessive inheritance	1643	DDB2	OMIM:278740
HP:0000007	Autosomal recessive inheritance	1776	DNASE1L3	OMIM:614420
HP:0000007	Autosomal recessive inheritance	763	CA5A	OMIM:615751
HP:0000007	Autosomal recessive inheritance	3932	LCK	OMIM:615758
HP:0000007	Autosomal recessive inheritance	65062	TMEM237	OMIM:614424
HP:0000007	Autosomal recessive inheritance	4803	NGF	OMIM:608654
HP:0000007	Autosomal recessive inheritance	8556	CDC14A	OMIM:608653
HP:0000007	Autosomal recessive inheritance	27249	MMADHC	OMIM:277410
HP:0000007	Autosomal recessive inheritance	4173	MCM4	OMIM:609981
HP:0000007	Autosomal recessive inheritance	10999	SLC27A4	OMIM:608649
HP:0000007	Autosomal recessive inheritance	54768	HYDIN	OMIM:608647
HP:0000007	Autosomal recessive inheritance	55187	VPS13D	OMIM:607317
HP:0000007	Autosomal recessive inheritance	5859	QARS1	OMIM:615760
HP:0000007	Autosomal recessive inheritance	164656	TMPRSS6	OMIM:206200
HP:0000007	Autosomal recessive inheritance	6813	STXBP2	OMIM:613101
HP:0000007	Autosomal recessive inheritance	5429	POLH	OMIM:278750
HP:0000007	Autosomal recessive inheritance	1825	DSC3	OMIM:613102
HP:0000007	Autosomal recessive inheritance	30008	EFEMP2	OMIM:614437
HP:0000007	Autosomal recessive inheritance	10273	STUB1	OMIM:615768
HP:0000007	Autosomal recessive inheritance	59067	IL21	OMIM:615767
HP:0000007	Autosomal recessive inheritance	90678	LRSAM1	OMIM:614436
HP:0000007	Autosomal recessive inheritance	1644	DDC	OMIM:608643
HP:0000007	Autosomal recessive inheritance	6443	SGCB	OMIM:604286
HP:0000007	Autosomal recessive inheritance	64581	CLEC7A	OMIM:613108
HP:0000007	Autosomal recessive inheritance	1767	DNAH5	OMIM:608644
HP:0000007	Autosomal recessive inheritance	3033	HADH	OMIM:609975
HP:0000007	Autosomal recessive inheritance	3033	HADH	OMIM:231530
HP:0000007	Autosomal recessive inheritance	64221	ROBO3	OMIM:607313
HP:0000007	Autosomal recessive inheritance	8671	SLC4A4	OMIM:604278
HP:0000007	Autosomal recessive inheritance	6578	SLCO2A1	OMIM:614441
HP:0000007	Autosomal recessive inheritance	9631	NUP155	OMIM:615770
HP:0000007	Autosomal recessive inheritance	79572	ATP13A3	OMIM:265400
HP:0000007	Autosomal recessive inheritance	22861	NLRP1	OMIM:618803
HP:0000007	Autosomal recessive inheritance	22861	NLRP1	OMIM:617388
HP:0000007	Autosomal recessive inheritance	23511	NUP188	OMIM:618804
HP:0000007	Autosomal recessive inheritance	26007	TKFC	OMIM:618805
HP:0000007	Autosomal recessive inheritance	22917	ZP1	OMIM:615774
HP:0000007	Autosomal recessive inheritance	54974	THG1L	OMIM:618800
HP:0000007	Autosomal recessive inheritance	462	SERPINC1	OMIM:613118
HP:0000007	Autosomal recessive inheritance	54970	TTC12	OMIM:618801
HP:0000007	Autosomal recessive inheritance	20	ABCA2	OMIM:618808
HP:0000007	Autosomal recessive inheritance	91647	ATPAF2	OMIM:604273
HP:0000007	Autosomal recessive inheritance	54806	AHI1	OMIM:608629
HP:0000007	Autosomal recessive inheritance	9420	CYP7B1	OMIM:270800
HP:0000007	Autosomal recessive inheritance	9420	CYP7B1	OMIM:613812
HP:0000007	Autosomal recessive inheritance	55163	PNPO	OMIM:610090
HP:0000007	Autosomal recessive inheritance	338917	VSX2	OMIM:610092
HP:0000007	Autosomal recessive inheritance	338917	VSX2	OMIM:610093
HP:0000007	Autosomal recessive inheritance	55857	KIZ	OMIM:615780
HP:0000007	Autosomal recessive inheritance	7421	VDR	OMIM:277440
HP:0000007	Autosomal recessive inheritance	55210	ATAD3A	OMIM:618810
HP:0000007	Autosomal recessive inheritance	55210	ATAD3A	OMIM:617183
HP:0000007	Autosomal recessive inheritance	89874	SLC25A21	OMIM:618811
HP:0000007	Autosomal recessive inheritance	6785	ELOVL4	OMIM:614457
HP:0000007	Autosomal recessive inheritance	9419	CRIPT	OMIM:615789
HP:0000007	Autosomal recessive inheritance	27010	TPK1	OMIM:614458
HP:0000007	Autosomal recessive inheritance	10269	ZMPSTE24	OMIM:608612
HP:0000007	Autosomal recessive inheritance	10269	ZMPSTE24	OMIM:275210
HP:0000007	Autosomal recessive inheritance	11019	LIAS	OMIM:614462
HP:0000007	Autosomal recessive inheritance	58494	JAM2	OMIM:618824
HP:0000007	Autosomal recessive inheritance	94137	RP1L1	OMIM:618826
HP:0000007	Autosomal recessive inheritance	4337	MOCS1	OMIM:252150
HP:0000007	Autosomal recessive inheritance	95681	CEP41	OMIM:614464
HP:0000007	Autosomal recessive inheritance	6531	SLC6A3	OMIM:613135
HP:0000007	Autosomal recessive inheritance	51524	TMEM138	OMIM:614465
HP:0000007	Autosomal recessive inheritance	91461	PKDCC	OMIM:618821
HP:0000007	Autosomal recessive inheritance	8087	FXR1	OMIM:618822
HP:0000007	Autosomal recessive inheritance	8087	FXR1	OMIM:618823
HP:0000007	Autosomal recessive inheritance	22934	RPIA	OMIM:608611
HP:0000007	Autosomal recessive inheritance	7036	TFR2	OMIM:604250
HP:0000007	Autosomal recessive inheritance	7507	XPA	OMIM:278700
HP:0000007	Autosomal recessive inheritance	128178	EDARADD	OMIM:224900
HP:0000007	Autosomal recessive inheritance	128178	EDARADD	OMIM:614941
HP:0000007	Autosomal recessive inheritance	10913	EDAR	OMIM:224900
HP:0000007	Autosomal recessive inheritance	55278	QRSL1	OMIM:618835
HP:0000007	Autosomal recessive inheritance	11005	SPINK5	OMIM:256500
HP:0000007	Autosomal recessive inheritance	5188	GATB	OMIM:618838
HP:0000007	Autosomal recessive inheritance	55704	CCDC88A	OMIM:617507
HP:0000007	Autosomal recessive inheritance	3587	IL10RA	OMIM:613148
HP:0000007	Autosomal recessive inheritance	283459	GATC	OMIM:618839
HP:0000007	Autosomal recessive inheritance	3094	HINT1	OMIM:137200
HP:0000007	Autosomal recessive inheritance	95	ACY1	OMIM:609924
HP:0000007	Autosomal recessive inheritance	2819	GPD1	OMIM:614480
HP:0000007	Autosomal recessive inheritance	29954	POMT2	OMIM:613150
HP:0000007	Autosomal recessive inheritance	29954	POMT2	OMIM:613156
HP:0000007	Autosomal recessive inheritance	29954	POMT2	OMIM:613158
HP:0000007	Autosomal recessive inheritance	29954	POMT2	OMIM:236670
HP:0000007	Autosomal recessive inheritance	7018	TF	OMIM:209300
HP:0000007	Autosomal recessive inheritance	9197	SLC33A1	OMIM:614482
HP:0000007	Autosomal recessive inheritance	79147	FKRP	OMIM:613153
HP:0000007	Autosomal recessive inheritance	79147	FKRP	OMIM:606612
HP:0000007	Autosomal recessive inheritance	79147	FKRP	OMIM:607155
HP:0000007	Autosomal recessive inheritance	79147	FKRP	OMIM:236670
HP:0000007	Autosomal recessive inheritance	27040	LAT	OMIM:617514
HP:0000007	Autosomal recessive inheritance	57591	MRTFA	OMIM:618847
HP:0000007	Autosomal recessive inheritance	64208	POPDC3	OMIM:618848
HP:0000007	Autosomal recessive inheritance	10939	AFG3L2	OMIM:614487
HP:0000007	Autosomal recessive inheritance	63929	XPNPEP3	OMIM:613159
HP:0000007	Autosomal recessive inheritance	55191	NADSYN1	OMIM:618845
HP:0000007	Autosomal recessive inheritance	63916	ELMO2	OMIM:606893
HP:0000007	Autosomal recessive inheritance	55812	SPATA7	OMIM:604232
HP:0000007	Autosomal recessive inheritance	57731	SPTBN4	OMIM:617519
HP:0000007	Autosomal recessive inheritance	7508	XPC	OMIM:278720
HP:0000007	Autosomal recessive inheritance	23155	CLCC1	OMIM:609913
HP:0000007	Autosomal recessive inheritance	587	BCAT2	OMIM:618850
HP:0000007	Autosomal recessive inheritance	29928	TIMM22	OMIM:618851
HP:0000007	Autosomal recessive inheritance	51733	UPB1	OMIM:613161
HP:0000007	Autosomal recessive inheritance	26249	KLHL3	OMIM:614495
HP:0000007	Autosomal recessive inheritance	18	ABAT	OMIM:613163
HP:0000007	Autosomal recessive inheritance	22978	NT5C2	OMIM:613162
HP:0000007	Autosomal recessive inheritance	7456	WIPF1	OMIM:614493
HP:0000007	Autosomal recessive inheritance	2815	GP9	OMIM:231200
HP:0000007	Autosomal recessive inheritance	2811	GP1BA	OMIM:231200
HP:0000007	Autosomal recessive inheritance	2811	GP1BA	OMIM:258660
HP:0000007	Autosomal recessive inheritance	2812	GP1BB	OMIM:231200
HP:0000007	Autosomal recessive inheritance	8738	CRADD	OMIM:614499
HP:0000007	Autosomal recessive inheritance	3630	INS	OMIM:618858
HP:0000007	Autosomal recessive inheritance	9181	ARHGEF2	OMIM:617523
HP:0000007	Autosomal recessive inheritance	7957	EPM2A	OMIM:254780
HP:0000007	Autosomal recessive inheritance	25871	NEPRO	OMIM:618853
HP:0000007	Autosomal recessive inheritance	9373	PLAA	OMIM:617527
HP:0000007	Autosomal recessive inheritance	22868	FASTKD2	OMIM:618855
HP:0000007	Autosomal recessive inheritance	2531	KDSR	OMIM:617526
HP:0000007	Autosomal recessive inheritance	2068	ERCC2	OMIM:278730
HP:0000007	Autosomal recessive inheritance	2068	ERCC2	OMIM:610756
HP:0000007	Autosomal recessive inheritance	2068	ERCC2	OMIM:601675
HP:0000007	Autosomal recessive inheritance	5052	PRDX1	OMIM:277400
HP:0000007	Autosomal recessive inheritance	25974	MMACHC	OMIM:277400
HP:0000007	Autosomal recessive inheritance	1718	DHCR24	OMIM:602398
HP:0000007	Autosomal recessive inheritance	2549	GAB1	OMIM:605428
HP:0000007	Autosomal recessive inheritance	65217	PCDH15	OMIM:601067
HP:0000007	Autosomal recessive inheritance	65217	PCDH15	OMIM:609533
HP:0000007	Autosomal recessive inheritance	65217	PCDH15	OMIM:602083
HP:0000007	Autosomal recessive inheritance	51399	TRAPPC4	OMIM:618741
HP:0000007	Autosomal recessive inheritance	720	C4A	OMIM:614380
HP:0000007	Autosomal recessive inheritance	2304	FOXE1	OMIM:241850
HP:0000007	Autosomal recessive inheritance	10059	DNM1L	OMIM:614388
HP:0000007	Autosomal recessive inheritance	7360	UGP2	OMIM:618744
HP:0000007	Autosomal recessive inheritance	83894	TTC29	OMIM:618745
HP:0000007	Autosomal recessive inheritance	148738	HJV	OMIM:602390
HP:0000007	Autosomal recessive inheritance	6331	SCN5A	OMIM:272120
HP:0000007	Autosomal recessive inheritance	6331	SCN5A	OMIM:608567
HP:0000007	Autosomal recessive inheritance	5932	RBBP8	OMIM:606744
HP:0000007	Autosomal recessive inheritance	5932	RBBP8	OMIM:251255
HP:0000007	Autosomal recessive inheritance	79925	SPEF2	OMIM:618751
HP:0000007	Autosomal recessive inheritance	5651	TMPRSS15	OMIM:226200
HP:0000007	Autosomal recessive inheritance	2348	FOLR1	OMIM:613068
HP:0000007	Autosomal recessive inheritance	2137	EXTL3	OMIM:617425
HP:0000007	Autosomal recessive inheritance	5184	PEPD	OMIM:170100
HP:0000007	Autosomal recessive inheritance	84466	MEGF10	OMIM:614399
HP:0000007	Autosomal recessive inheritance	84466	MEGF10	OMIM:620249
HP:0000007	Autosomal recessive inheritance	79158	GNPTAB	OMIM:252500
HP:0000007	Autosomal recessive inheritance	79158	GNPTAB	OMIM:252600
HP:0000007	Autosomal recessive inheritance	7054	TH	OMIM:605407
HP:0000007	Autosomal recessive inheritance	57589	RIC1	OMIM:618761
HP:0000007	Autosomal recessive inheritance	55687	TRMU	OMIM:613070
HP:0000007	Autosomal recessive inheritance	23495	TNFRSF13B	OMIM:240500
HP:0000007	Autosomal recessive inheritance	4318	MMP9	OMIM:613073
HP:0000007	Autosomal recessive inheritance	317662	FAM149B1	OMIM:618763
HP:0000007	Autosomal recessive inheritance	1513	CTSK	OMIM:265800
HP:0000007	Autosomal recessive inheritance	54453	RIN2	OMIM:613075
HP:0000007	Autosomal recessive inheritance	23370	ARHGEF18	OMIM:617433
HP:0000007	Autosomal recessive inheritance	6884	TAF13	OMIM:617432
HP:0000007	Autosomal recessive inheritance	2671	GFER	OMIM:613076
HP:0000007	Autosomal recessive inheritance	125336	LOXHD1	OMIM:613079
HP:0000007	Autosomal recessive inheritance	10111	RAD50	OMIM:613078
HP:0000007	Autosomal recessive inheritance	3064	HTT	OMIM:617435
HP:0000007	Autosomal recessive inheritance	55681	SCYL2	OMIM:618766
HP:0000007	Autosomal recessive inheritance	51109	RDH11	OMIM:616108
HP:0000007	Autosomal recessive inheritance	85465	SELENOI	OMIM:618768
HP:0000007	Autosomal recessive inheritance	1528	CYB5A	OMIM:250790
HP:0000007	Autosomal recessive inheritance	8659	ALDH4A1	OMIM:239510
HP:0000007	Autosomal recessive inheritance	84733	CBX2	OMIM:613080
HP:0000007	Autosomal recessive inheritance	10203	CALCRL	OMIM:618773
HP:0000007	Autosomal recessive inheritance	7386	UQCRFS1	OMIM:618775
HP:0000007	Autosomal recessive inheritance	23312	DMXL2	OMIM:616113
HP:0000007	Autosomal recessive inheritance	23312	DMXL2	OMIM:618663
HP:0000007	Autosomal recessive inheritance	2313	FLI1	OMIM:617443
HP:0000007	Autosomal recessive inheritance	4439	MSH5	OMIM:617442
HP:0000007	Autosomal recessive inheritance	4439	MSH5	OMIM:619937
HP:0000007	Autosomal recessive inheritance	5833	PCYT2	OMIM:618770
HP:0000007	Autosomal recessive inheritance	790955	UQCC3	OMIM:616111
HP:0000007	Autosomal recessive inheritance	80739	MPIG6B	OMIM:617441
HP:0000007	Autosomal recessive inheritance	3340	NDST1	OMIM:616116
HP:0000007	Autosomal recessive inheritance	284184	NDUFAF8	OMIM:618776
HP:0000007	Autosomal recessive inheritance	11081	KERA	OMIM:217300
HP:0000007	Autosomal recessive inheritance	79659	DYNC2H1	OMIM:613091
HP:0000007	Autosomal recessive inheritance	11285	B4GALT7	OMIM:130070
HP:0000007	Autosomal recessive inheritance	5146	PDE6C	OMIM:613093
HP:0000007	Autosomal recessive inheritance	5314	PKHD1	OMIM:263200
HP:0000007	Autosomal recessive inheritance	152110	NEK10	OMIM:618781
HP:0000007	Autosomal recessive inheritance	51633	OTUD6B	OMIM:617452
HP:0000007	Autosomal recessive inheritance	55280	CWF19L1	OMIM:616127
HP:0000007	Autosomal recessive inheritance	9636	ISG15	OMIM:616126
HP:0000007	Autosomal recessive inheritance	144811	LACC1	OMIM:618795
HP:0000007	Autosomal recessive inheritance	253959	RALGAPA1	OMIM:618797
HP:0000007	Autosomal recessive inheritance	7358	UGDH	OMIM:618792
HP:0000007	Autosomal recessive inheritance	163175	LGI4	OMIM:617468
HP:0000007	Autosomal recessive inheritance	200424	TET3	OMIM:618798
HP:0000007	Autosomal recessive inheritance	79728	PALB2	OMIM:610832
HP:0000007	Autosomal recessive inheritance	487	ATP2A1	OMIM:601003
HP:0000007	Autosomal recessive inheritance	3861	KRT14	OMIM:601001
HP:0000007	Autosomal recessive inheritance	5917	RARS1	OMIM:616140
HP:0000007	Autosomal recessive inheritance	23483	TGDS	OMIM:616145
HP:0000007	Autosomal recessive inheritance	2395	FXN	OMIM:229300
HP:0000007	Autosomal recessive inheritance	6603	SMARCD2	OMIM:617475
HP:0000007	Autosomal recessive inheritance	54916	TMEM260	OMIM:617478
HP:0000007	Autosomal recessive inheritance	79648	MCPH1	OMIM:251200
HP:0000007	Autosomal recessive inheritance	58497	PRUNE1	OMIM:617481
HP:0000007	Autosomal recessive inheritance	84188	FAR1	OMIM:616154
HP:0000007	Autosomal recessive inheritance	3000	GUCY2D	OMIM:204000
HP:0000007	Autosomal recessive inheritance	3000	GUCY2D	OMIM:601777
HP:0000007	Autosomal recessive inheritance	3000	GUCY2D	OMIM:618555
HP:0000007	Autosomal recessive inheritance	51314	NME8	OMIM:610852
HP:0000007	Autosomal recessive inheritance	4921	DDR2	OMIM:271665
HP:0000007	Autosomal recessive inheritance	56203	LMOD3	OMIM:616165
HP:0000007	Autosomal recessive inheritance	3081	HGD	OMIM:203500
HP:0000007	Autosomal recessive inheritance	7038	TG	OMIM:274700
HP:0000007	Autosomal recessive inheritance	10733	PLK4	OMIM:616171
HP:0000007	Autosomal recessive inheritance	1259	CNGA1	OMIM:268000
HP:0000007	Autosomal recessive inheritance	1259	CNGA1	OMIM:613756
HP:0000007	Autosomal recessive inheritance	5148	PDE6G	OMIM:268000
HP:0000007	Autosomal recessive inheritance	5148	PDE6G	OMIM:613582
HP:0000007	Autosomal recessive inheritance	1406	CRX	OMIM:268000
HP:0000007	Autosomal recessive inheritance	1406	CRX	OMIM:613829
HP:0000007	Autosomal recessive inheritance	55243	KIRREL1	OMIM:619201
HP:0000007	Autosomal recessive inheritance	317761	C14orf39	OMIM:619202
HP:0000007	Autosomal recessive inheritance	317761	C14orf39	OMIM:619203
HP:0000007	Autosomal recessive inheritance	11277	TREX1	OMIM:225750
HP:0000007	Autosomal recessive inheritance	5568	PRKACG	OMIM:616176
HP:0000007	Autosomal recessive inheritance	64065	PERP	OMIM:619209
HP:0000007	Autosomal recessive inheritance	4010	LMX1B	OMIM:256020
HP:0000007	Autosomal recessive inheritance	7007	TECTA	OMIM:603629
HP:0000007	Autosomal recessive inheritance	254394	MCM9	OMIM:616185
HP:0000007	Autosomal recessive inheritance	57007	ACKR3	OMIM:619215
HP:0000007	Autosomal recessive inheritance	7275	TUB	OMIM:616188
HP:0000007	Autosomal recessive inheritance	64856	VWA1	OMIM:619216
HP:0000007	Autosomal recessive inheritance	439	GET3	OMIM:620203
HP:0000007	Autosomal recessive inheritance	2019	EN1	OMIM:619218
HP:0000007	Autosomal recessive inheritance	1675	CFD	OMIM:613912
HP:0000007	Autosomal recessive inheritance	819	CAMLG	OMIM:620201
HP:0000007	Autosomal recessive inheritance	51608	GET4	OMIM:620200
HP:0000007	Autosomal recessive inheritance	3735	KARS1	OMIM:613916
HP:0000007	Autosomal recessive inheritance	3735	KARS1	OMIM:619196
HP:0000007	Autosomal recessive inheritance	3735	KARS1	OMIM:619147
HP:0000007	Autosomal recessive inheritance	3735	KARS1	OMIM:613641
HP:0000007	Autosomal recessive inheritance	56776	FMN2	OMIM:616193
HP:0000007	Autosomal recessive inheritance	5611	DNAJC3	OMIM:616192
HP:0000007	Autosomal recessive inheritance	6390	SDHB	OMIM:619224
HP:0000007	Autosomal recessive inheritance	1830	DSG3	OMIM:619226
HP:0000007	Autosomal recessive inheritance	7174	TPP2	OMIM:619220
HP:0000007	Autosomal recessive inheritance	58472	SQOR	OMIM:619221
HP:0000007	Autosomal recessive inheritance	2992	GYG1	OMIM:616199
HP:0000007	Autosomal recessive inheritance	2992	GYG1	OMIM:613507
HP:0000007	Autosomal recessive inheritance	84705	GTPBP3	OMIM:616198
HP:0000007	Autosomal recessive inheritance	9049	AIP	OMIM:219090
HP:0000007	Autosomal recessive inheritance	9101	USP8	OMIM:219090
HP:0000007	Autosomal recessive inheritance	6297	SALL2	OMIM:216820
HP:0000007	Autosomal recessive inheritance	220296	HEPACAM	OMIM:613925
HP:0000007	Autosomal recessive inheritance	220296	HEPACAM	OMIM:604004
HP:0000007	Autosomal recessive inheritance	8883	NAE1	OMIM:620210
HP:0000007	Autosomal recessive inheritance	55186	SLC25A36	OMIM:620211
HP:0000007	Autosomal recessive inheritance	9563	H6PD	OMIM:604931
HP:0000007	Autosomal recessive inheritance	84265	POLR3GL	OMIM:619234
HP:0000007	Autosomal recessive inheritance	4158	MC2R	OMIM:202200
HP:0000007	Autosomal recessive inheritance	2155	F7	OMIM:227500
HP:0000007	Autosomal recessive inheritance	570	BAAT	OMIM:619232
HP:0000007	Autosomal recessive inheritance	4070	TACSTD2	OMIM:204870
HP:0000007	Autosomal recessive inheritance	920	CD4	OMIM:619238
HP:0000007	Autosomal recessive inheritance	435	ASL	OMIM:207900
HP:0000007	Autosomal recessive inheritance	6608	SMO	OMIM:241800
HP:0000007	Autosomal recessive inheritance	31	ACACA	OMIM:613933
HP:0000007	Autosomal recessive inheritance	3248	HPGD	OMIM:259100
HP:0000007	Autosomal recessive inheritance	3248	HPGD	OMIM:119900
HP:0000007	Autosomal recessive inheritance	286	ANK1	OMIM:182900
HP:0000007	Autosomal recessive inheritance	1041	CDSN	OMIM:270300
HP:0000007	Autosomal recessive inheritance	493856	CISD2	OMIM:604928
HP:0000007	Autosomal recessive inheritance	11077	HSF2BP	OMIM:619245
HP:0000007	Autosomal recessive inheritance	55640	FLVCR2	OMIM:225790
HP:0000007	Autosomal recessive inheritance	91875	TTC5	OMIM:619244
HP:0000007	Autosomal recessive inheritance	100127206	MINAR2	OMIM:620238
HP:0000007	Autosomal recessive inheritance	643418	LIPN	OMIM:613943
HP:0000007	Autosomal recessive inheritance	54800	KLHL24	OMIM:620236
HP:0000007	Autosomal recessive inheritance	5625	PRODH	OMIM:239500
HP:0000007	Autosomal recessive inheritance	84033	OBSCN	OMIM:620235
HP:0000007	Autosomal recessive inheritance	4773	NFATC2	OMIM:620232
HP:0000007	Autosomal recessive inheritance	10551	AGR2	OMIM:620233
HP:0000007	Autosomal recessive inheritance	60386	SLC25A19	OMIM:607196
HP:0000007	Autosomal recessive inheritance	60386	SLC25A19	OMIM:613710
HP:0000007	Autosomal recessive inheritance	10436	EMG1	OMIM:211180
HP:0000007	Autosomal recessive inheritance	1497	CTNS	OMIM:219900
HP:0000007	Autosomal recessive inheritance	1497	CTNS	OMIM:219800
HP:0000007	Autosomal recessive inheritance	1497	CTNS	OMIM:219750
HP:0000007	Autosomal recessive inheritance	6554	SLC10A1	OMIM:619256
HP:0000007	Autosomal recessive inheritance	284382	ACTL9	OMIM:619258
HP:0000007	Autosomal recessive inheritance	1315	COPB1	OMIM:619255
HP:0000007	Autosomal recessive inheritance	84464	SLX4	OMIM:613951
HP:0000007	Autosomal recessive inheritance	23765	IL17RA	OMIM:613953
HP:0000007	Autosomal recessive inheritance	779	CACNA1S	OMIM:620246
HP:0000007	Autosomal recessive inheritance	283417	DPY19L2	OMIM:613958
HP:0000007	Autosomal recessive inheritance	55901	THSD1	OMIM:620244
HP:0000007	Autosomal recessive inheritance	10079	ATP9A	OMIM:620242
HP:0000007	Autosomal recessive inheritance	2801	GOLGA2	OMIM:620240
HP:0000007	Autosomal recessive inheritance	64802	NMNAT1	OMIM:619260
HP:0000007	Autosomal recessive inheritance	64802	NMNAT1	OMIM:608553
HP:0000007	Autosomal recessive inheritance	3690	ITGB3	OMIM:619267
HP:0000007	Autosomal recessive inheritance	1893	ECM1	OMIM:247100
HP:0000007	Autosomal recessive inheritance	55181	SMG8	OMIM:619268
HP:0000007	Autosomal recessive inheritance	8516	ITGA8	OMIM:191830
HP:0000007	Autosomal recessive inheritance	375056	MIA3	OMIM:619269
HP:0000007	Autosomal recessive inheritance	23500	DAAM2	OMIM:619263
HP:0000007	Autosomal recessive inheritance	284361	EMC10	OMIM:619264
HP:0000007	Autosomal recessive inheritance	4689	NCF4	OMIM:613960
HP:0000007	Autosomal recessive inheritance	203	AK1	OMIM:612631
HP:0000007	Autosomal recessive inheritance	10749	KIF1C	OMIM:611302
HP:0000007	Autosomal recessive inheritance	5696	PSMB8	OMIM:256040
HP:0000007	Autosomal recessive inheritance	283450	HECTD4	OMIM:620250
HP:0000007	Autosomal recessive inheritance	5138	PDE2A	OMIM:619150
HP:0000007	Autosomal recessive inheritance	6770	STAR	OMIM:201710
HP:0000007	Autosomal recessive inheritance	9722	NOS1AP	OMIM:619155
HP:0000007	Autosomal recessive inheritance	3704	ITPA	OMIM:613850
HP:0000007	Autosomal recessive inheritance	3704	ITPA	OMIM:616647
HP:0000007	Autosomal recessive inheritance	1593	CYP27A1	OMIM:213700
HP:0000007	Autosomal recessive inheritance	781	CACNA2D1	OMIM:620149
HP:0000007	Autosomal recessive inheritance	857	CAV1	OMIM:612526
HP:0000007	Autosomal recessive inheritance	2780	GNAT2	OMIM:613856
HP:0000007	Autosomal recessive inheritance	80144	FRAS1	OMIM:219000
HP:0000007	Autosomal recessive inheritance	9313	MMP20	OMIM:612529
HP:0000007	Autosomal recessive inheritance	3858	KRT10	OMIM:620150
HP:0000007	Autosomal recessive inheritance	3858	KRT10	OMIM:620707
HP:0000007	Autosomal recessive inheritance	23149	FCHO1	OMIM:619164
HP:0000007	Autosomal recessive inheritance	1638	DCT	OMIM:619165
HP:0000007	Autosomal recessive inheritance	644096	SDHAF1	OMIM:619166
HP:0000007	Autosomal recessive inheritance	6392	SDHD	OMIM:619167
HP:0000007	Autosomal recessive inheritance	8547	FCN3	OMIM:613860
HP:0000007	Autosomal recessive inheritance	10461	MERTK	OMIM:613862
HP:0000007	Autosomal recessive inheritance	79947	DHDDS	OMIM:613861
HP:0000007	Autosomal recessive inheritance	841	CASP8	OMIM:607271
HP:0000007	Autosomal recessive inheritance	375611	SLC26A5	OMIM:613865
HP:0000007	Autosomal recessive inheritance	1410	CRYAB	OMIM:613869
HP:0000007	Autosomal recessive inheritance	1410	CRYAB	OMIM:613763
HP:0000007	Autosomal recessive inheritance	26153	KIF26A	OMIM:620156
HP:0000007	Autosomal recessive inheritance	9382	COG1	OMIM:611209
HP:0000007	Autosomal recessive inheritance	338657	CENATAC	OMIM:620153
HP:0000007	Autosomal recessive inheritance	678	ZFP36L2	OMIM:620154
HP:0000007	Autosomal recessive inheritance	63915	BLOC1S5	OMIM:619172
HP:0000007	Autosomal recessive inheritance	645104	CLRN2	OMIM:619174
HP:0000007	Autosomal recessive inheritance	4718	NDUFC2	OMIM:619170
HP:0000007	Autosomal recessive inheritance	5699	PSMB10	OMIM:619175
HP:0000007	Autosomal recessive inheritance	283677	REC114	OMIM:619176
HP:0000007	Autosomal recessive inheritance	89876	CFAP91	OMIM:619177
HP:0000007	Autosomal recessive inheritance	1272	CNTN1	OMIM:612540
HP:0000007	Autosomal recessive inheritance	92579	G6PC3	OMIM:612541
HP:0000007	Autosomal recessive inheritance	1801	DPH1	OMIM:616901
HP:0000007	Autosomal recessive inheritance	93627	TBCK	OMIM:616900
HP:0000007	Autosomal recessive inheritance	9570	GOSR2	OMIM:620166
HP:0000007	Autosomal recessive inheritance	9570	GOSR2	OMIM:614018
HP:0000007	Autosomal recessive inheritance	54675	CRLS1	OMIM:620167
HP:0000007	Autosomal recessive inheritance	823	CAPN1	OMIM:616907
HP:0000007	Autosomal recessive inheritance	10555	AGPAT2	OMIM:608594
HP:0000007	Autosomal recessive inheritance	5313	PKLR	OMIM:266200
HP:0000007	Autosomal recessive inheritance	56984	PSMG2	OMIM:619183
HP:0000007	Autosomal recessive inheritance	222663	SCUBE3	OMIM:619184
HP:0000007	Autosomal recessive inheritance	80726	IQCN	OMIM:620170
HP:0000007	Autosomal recessive inheritance	23116	TOGARAM1	OMIM:619185
HP:0000007	Autosomal recessive inheritance	51371	POMP	OMIM:601952
HP:0000007	Autosomal recessive inheritance	6687	SPG7	OMIM:607259
HP:0000007	Autosomal recessive inheritance	8557	TCAP	OMIM:601954
HP:0000007	Autosomal recessive inheritance	6999	TDO2	OMIM:600627
HP:0000007	Autosomal recessive inheritance	55148	UBR7	OMIM:619189
HP:0000007	Autosomal recessive inheritance	55775	TDP1	OMIM:607250
HP:0000007	Autosomal recessive inheritance	2492	FSHR	OMIM:233300
HP:0000007	Autosomal recessive inheritance	23545	ATP6V0A2	OMIM:278250
HP:0000007	Autosomal recessive inheritance	23545	ATP6V0A2	OMIM:219200
HP:0000007	Autosomal recessive inheritance	79867	TCTN2	OMIM:613885
HP:0000007	Autosomal recessive inheritance	79867	TCTN2	OMIM:616654
HP:0000007	Autosomal recessive inheritance	3070	HELLS	OMIM:616911
HP:0000007	Autosomal recessive inheritance	11160	ERLIN2	OMIM:611225
HP:0000007	Autosomal recessive inheritance	83879	CDCA7	OMIM:616910
HP:0000007	Autosomal recessive inheritance	23424	TDRD7	OMIM:613887
HP:0000007	Autosomal recessive inheritance	54872	PIGG	OMIM:616917
HP:0000007	Autosomal recessive inheritance	79669	C3orf52	OMIM:620177
HP:0000007	Autosomal recessive inheritance	699	BUB1	OMIM:620183
HP:0000007	Autosomal recessive inheritance	9653	HS2ST1	OMIM:619194
HP:0000007	Autosomal recessive inheritance	84138	SLC7A6OS	OMIM:619191
HP:0000007	Autosomal recessive inheritance	5447	POR	OMIM:201750
HP:0000007	Autosomal recessive inheritance	5447	POR	OMIM:613571
HP:0000007	Autosomal recessive inheritance	56006	SMG9	OMIM:616920
HP:0000007	Autosomal recessive inheritance	56006	SMG9	OMIM:619995
HP:0000007	Autosomal recessive inheritance	10846	PDE10A	OMIM:616921
HP:0000007	Autosomal recessive inheritance	3588	IL10RB	OMIM:612567
HP:0000007	Autosomal recessive inheritance	8379	MAD1L1	OMIM:620189
HP:0000007	Autosomal recessive inheritance	5649	RELN	OMIM:257320
HP:0000007	Autosomal recessive inheritance	55719	SLF2	OMIM:620184
HP:0000007	Autosomal recessive inheritance	23137	SMC5	OMIM:620185
HP:0000007	Autosomal recessive inheritance	10907	TXNL4A	OMIM:608572
HP:0000007	Autosomal recessive inheritance	55343	SLC35C1	OMIM:266265
HP:0000007	Autosomal recessive inheritance	79759	ZNF668	OMIM:620194
HP:0000007	Autosomal recessive inheritance	283209	PGM2L1	OMIM:620191
HP:0000007	Autosomal recessive inheritance	1737	DLAT	OMIM:245348
HP:0000007	Autosomal recessive inheritance	8050	PDHX	OMIM:245349
HP:0000007	Autosomal recessive inheritance	6473	SHOX	OMIM:249700
HP:0000007	Autosomal recessive inheritance	3420	IDH3B	OMIM:612572
HP:0000007	Autosomal recessive inheritance	2512	FTL	OMIM:615604
HP:0000007	Autosomal recessive inheritance	54112	GPR88	OMIM:616939
HP:0000007	Autosomal recessive inheritance	917	CD3G	OMIM:615607
HP:0000007	Autosomal recessive inheritance	84946	LTV1	OMIM:620199
HP:0000007	Autosomal recessive inheritance	2103	ESRRB	OMIM:608565
HP:0000007	Autosomal recessive inheritance	85452	CFAP74	OMIM:620197
HP:0000007	Autosomal recessive inheritance	7234	TRU-TCA1-1	OMIM:620198
HP:0000007	Autosomal recessive inheritance	157855	KCNU1	OMIM:620196
HP:0000007	Autosomal recessive inheritance	3339	HSPG2	OMIM:224410
HP:0000007	Autosomal recessive inheritance	3339	HSPG2	OMIM:255800
HP:0000007	Autosomal recessive inheritance	916	CD3E	OMIM:615615
HP:0000007	Autosomal recessive inheritance	2961	GTF2E2	OMIM:616943
HP:0000007	Autosomal recessive inheritance	51567	TDP2	OMIM:616949
HP:0000007	Autosomal recessive inheritance	200403	VWA3B	OMIM:616948
HP:0000007	Autosomal recessive inheritance	915	CD3D	OMIM:615617
HP:0000007	Autosomal recessive inheritance	93426	SYCE1	OMIM:616947
HP:0000007	Autosomal recessive inheritance	93426	SYCE1	OMIM:616950
HP:0000007	Autosomal recessive inheritance	701	BUB1B	OMIM:257300
HP:0000007	Autosomal recessive inheritance	64788	LMF1	OMIM:246650
HP:0000007	Autosomal recessive inheritance	57560	IFT80	OMIM:611263
HP:0000007	Autosomal recessive inheritance	9894	TELO2	OMIM:616954
HP:0000007	Autosomal recessive inheritance	51095	TRNT1	OMIM:616959
HP:0000007	Autosomal recessive inheritance	51095	TRNT1	OMIM:616084
HP:0000007	Autosomal recessive inheritance	56052	ALG1	OMIM:608540
HP:0000007	Autosomal recessive inheritance	8518	ELP1	OMIM:223900
HP:0000007	Autosomal recessive inheritance	8518	ELP1	OMIM:155255
HP:0000007	Autosomal recessive inheritance	84627	ZNF469	OMIM:229200
HP:0000007	Autosomal recessive inheritance	89891	DYNC2I2	OMIM:615633
HP:0000007	Autosomal recessive inheritance	2584	GALK1	OMIM:230200
HP:0000007	Autosomal recessive inheritance	84529	CDIN1	OMIM:615631
HP:0000007	Autosomal recessive inheritance	132	ADK	OMIM:614300
HP:0000007	Autosomal recessive inheritance	79848	CSPP1	OMIM:615636
HP:0000007	Autosomal recessive inheritance	11133	KPTN	OMIM:615637
HP:0000007	Autosomal recessive inheritance	50506	DUOX2	OMIM:607200
HP:0000007	Autosomal recessive inheritance	23600	AMACR	OMIM:614307
HP:0000007	Autosomal recessive inheritance	23600	AMACR	OMIM:214950
HP:0000007	Autosomal recessive inheritance	79650	USB1	OMIM:604173
HP:0000007	Autosomal recessive inheritance	9150	CTDP1	OMIM:604168
HP:0000007	Autosomal recessive inheritance	9948	WDR1	OMIM:150550
HP:0000007	Autosomal recessive inheritance	3074	HEXB	OMIM:268800
HP:0000007	Autosomal recessive inheritance	27034	ACAD8	OMIM:611283
HP:0000007	Autosomal recessive inheritance	54931	TRMT10C	OMIM:616974
HP:0000007	Autosomal recessive inheritance	7200	TRH	OMIM:275120
HP:0000007	Autosomal recessive inheritance	23732	FRRS1L	OMIM:616981
HP:0000007	Autosomal recessive inheritance	1181	CLCN2	OMIM:615651
HP:0000007	Autosomal recessive inheritance	29893	PSMC3IP	OMIM:614324
HP:0000007	Autosomal recessive inheritance	4358	MPV17	OMIM:256810
HP:0000007	Autosomal recessive inheritance	4358	MPV17	OMIM:618400
HP:0000007	Autosomal recessive inheritance	10342	TFG	OMIM:615658
HP:0000007	Autosomal recessive inheritance	6868	ADAM17	OMIM:614328
HP:0000007	Autosomal recessive inheritance	9378	NRXN1	OMIM:614325
HP:0000007	Autosomal recessive inheritance	84693	MCEE	OMIM:251120
HP:0000007	Autosomal recessive inheritance	3712	IVD	OMIM:243500
HP:0000007	Autosomal recessive inheritance	8647	ABCB11	OMIM:605479
HP:0000007	Autosomal recessive inheritance	8647	ABCB11	OMIM:601847
HP:0000007	Autosomal recessive inheritance	7098	TLR3	OMIM:613002
HP:0000007	Autosomal recessive inheritance	5147	PDE6D	OMIM:615665
HP:0000007	Autosomal recessive inheritance	545	ATR	OMIM:210600
HP:0000007	Autosomal recessive inheritance	128637	TBC1D20	OMIM:615663
HP:0000007	Autosomal recessive inheritance	55969	RAB5IF	OMIM:616994
HP:0000007	Autosomal recessive inheritance	4914	NTRK1	OMIM:256800
HP:0000007	Autosomal recessive inheritance	5406	PNLIP	OMIM:614338
HP:0000007	Autosomal recessive inheritance	326625	MMAB	OMIM:251110
HP:0000007	Autosomal recessive inheritance	84059	ADGRV1	OMIM:605472
HP:0000007	Autosomal recessive inheritance	11078	TRIOBP	OMIM:609823
HP:0000007	Autosomal recessive inheritance	10367	MICU1	OMIM:615673
HP:0000007	Autosomal recessive inheritance	3702	ITK	OMIM:613011
HP:0000007	Autosomal recessive inheritance	55180	LINS1	OMIM:614340
HP:0000007	Autosomal recessive inheritance	1103	CHAT	OMIM:254210
HP:0000007	Autosomal recessive inheritance	189	AGXT	OMIM:259900
HP:0000007	Autosomal recessive inheritance	80152	CENPT	OMIM:618702
HP:0000007	Autosomal recessive inheritance	64805	P2RY12	OMIM:609821
HP:0000007	Autosomal recessive inheritance	3955	LFNG	OMIM:609813
HP:0000007	Autosomal recessive inheritance	953	ENTPD1	OMIM:615683
HP:0000007	Autosomal recessive inheritance	10613	ERLIN1	OMIM:615681
HP:0000007	Autosomal recessive inheritance	23204	ARL6IP1	OMIM:615685
HP:0000007	Autosomal recessive inheritance	5261	PHKG2	OMIM:613027
HP:0000007	Autosomal recessive inheritance	54658	UGT1A1	OMIM:606785
HP:0000007	Autosomal recessive inheritance	54658	UGT1A1	OMIM:218800
HP:0000007	Autosomal recessive inheritance	54658	UGT1A1	OMIM:237900
HP:0000007	Autosomal recessive inheritance	54658	UGT1A1	OMIM:143500
HP:0000007	Autosomal recessive inheritance	84628	NTNG2	OMIM:618718
HP:0000007	Autosomal recessive inheritance	51	ACOX1	OMIM:264470
HP:0000007	Autosomal recessive inheritance	6513	SLC2A1	OMIM:606777
HP:0000007	Autosomal recessive inheritance	204	AK2	OMIM:267500
HP:0000007	Autosomal recessive inheritance	2806	GOT2	OMIM:618721
HP:0000007	Autosomal recessive inheritance	5449	POU1F1	OMIM:613038
HP:0000007	Autosomal recessive inheritance	7473	WNT3	OMIM:273395
HP:0000007	Autosomal recessive inheritance	8086	AAAS	OMIM:231550
HP:0000007	Autosomal recessive inheritance	8139	GAN	OMIM:256850
HP:0000007	Autosomal recessive inheritance	1439	CSF2RB	OMIM:614370
HP:0000007	Autosomal recessive inheritance	51075	TMX2	OMIM:618730
HP:0000007	Autosomal recessive inheritance	57647	DHX37	OMIM:618731
HP:0000007	Autosomal recessive inheritance	22948	CCT5	OMIM:256840
HP:0000007	Autosomal recessive inheritance	51763	INPP5K	OMIM:617404
HP:0000007	Autosomal recessive inheritance	10844	TUBGCP2	OMIM:618737
HP:0000007	Autosomal recessive inheritance	523	ATP6V1A	OMIM:617403
HP:0000007	Autosomal recessive inheritance	529	ATP6V1E1	OMIM:617402
HP:0000007	Autosomal recessive inheritance	255758	DYNLT2B	OMIM:617405
HP:0000007	Autosomal recessive inheritance	9381	OTOF	OMIM:601071
HP:0000007	Autosomal recessive inheritance	64699	TMPRSS3	OMIM:601072
HP:0000007	Autosomal recessive inheritance	352909	DNAAF3	OMIM:606763
HP:0000007	Autosomal recessive inheritance	7252	TSHB	OMIM:275100
HP:0000007	Autosomal recessive inheritance	3551	IKBKB	OMIM:615592
HP:0000007	Autosomal recessive inheritance	10617	STAMBP	OMIM:614261
HP:0000007	Autosomal recessive inheritance	57128	LYRM4	OMIM:615595
HP:0000007	Autosomal recessive inheritance	197322	ACSF3	OMIM:614265
HP:0000007	Autosomal recessive inheritance	3703	STT3A	OMIM:615596
HP:0000007	Autosomal recessive inheritance	7293	TNFRSF4	OMIM:615593
HP:0000007	Autosomal recessive inheritance	6873	TAF2	OMIM:615599
HP:0000007	Autosomal recessive inheritance	1000	CDH2	OMIM:619957
HP:0000007	Autosomal recessive inheritance	201595	STT3B	OMIM:615597
HP:0000007	Autosomal recessive inheritance	8710	SERPINB7	OMIM:615598
HP:0000007	Autosomal recessive inheritance	26873	OPLAH	OMIM:260005
HP:0000007	Autosomal recessive inheritance	55627	SMPD4	OMIM:618622
HP:0000007	Autosomal recessive inheritance	23417	MLYCD	OMIM:248360
HP:0000007	Autosomal recessive inheritance	5361	PLXNA1	OMIM:619955
HP:0000007	Autosomal recessive inheritance	64682	ANAPC1	OMIM:618625
HP:0000007	Autosomal recessive inheritance	5830	PEX5	OMIM:214110
HP:0000007	Autosomal recessive inheritance	5830	PEX5	OMIM:616716
HP:0000007	Autosomal recessive inheritance	5830	PEX5	OMIM:202370
HP:0000007	Autosomal recessive inheritance	1131	CHRM3	OMIM:100100
HP:0000007	Autosomal recessive inheritance	64094	SMOC2	OMIM:125400
HP:0000007	Autosomal recessive inheritance	9380	GRHPR	OMIM:260000
HP:0000007	Autosomal recessive inheritance	6536	SLC6A9	OMIM:617301
HP:0000007	Autosomal recessive inheritance	1109	AKR1C4	OMIM:614279
HP:0000007	Autosomal recessive inheritance	1646	AKR1C2	OMIM:614279
HP:0000007	Autosomal recessive inheritance	92840	REEP6	OMIM:617304
HP:0000007	Autosomal recessive inheritance	65082	VPS33A	OMIM:617303
HP:0000007	Autosomal recessive inheritance	7941	PLA2G7	OMIM:614278
HP:0000007	Autosomal recessive inheritance	10730	YME1L1	OMIM:617302
HP:0000007	Autosomal recessive inheritance	8309	ACOX2	OMIM:617308
HP:0000007	Autosomal recessive inheritance	128486	FITM2	OMIM:618635
HP:0000007	Autosomal recessive inheritance	57156	TMEM63C	OMIM:619966
HP:0000007	Autosomal recessive inheritance	4286	MITF	OMIM:617306
HP:0000007	Autosomal recessive inheritance	9200	HACD1	OMIM:619967
HP:0000007	Autosomal recessive inheritance	7486	WRN	OMIM:277700
HP:0000007	Autosomal recessive inheritance	5189	PEX1	OMIM:214100
HP:0000007	Autosomal recessive inheritance	5189	PEX1	OMIM:234580
HP:0000007	Autosomal recessive inheritance	5189	PEX1	OMIM:601539
HP:0000007	Autosomal recessive inheritance	55034	MOCOS	OMIM:603592
HP:0000007	Autosomal recessive inheritance	10559	SLC35A1	OMIM:603585
HP:0000007	Autosomal recessive inheritance	54	ACP5	OMIM:607944
HP:0000007	Autosomal recessive inheritance	535	ATP6V0A1	OMIM:619971
HP:0000007	Autosomal recessive inheritance	60561	RINT1	OMIM:618641
HP:0000007	Autosomal recessive inheritance	129685	TAF8	OMIM:619972
HP:0000007	Autosomal recessive inheritance	10584	COLEC10	OMIM:248340
HP:0000007	Autosomal recessive inheritance	8632	DNAH17	OMIM:618643
HP:0000007	Autosomal recessive inheritance	1298	COL9A2	OMIM:614284
HP:0000007	Autosomal recessive inheritance	10379	IRF9	OMIM:618648
HP:0000007	Autosomal recessive inheritance	23184	MESD	OMIM:618644
HP:0000007	Autosomal recessive inheritance	27151	CPAMD8	OMIM:617319
HP:0000007	Autosomal recessive inheritance	170825	GSX2	OMIM:618646
HP:0000007	Autosomal recessive inheritance	6445	SGCG	OMIM:253700
HP:0000007	Autosomal recessive inheritance	1475	CSTA	OMIM:607936
HP:0000007	Autosomal recessive inheritance	154288	KHDC3L	OMIM:614293
HP:0000007	Autosomal recessive inheritance	22872	SEC31A	OMIM:618651
HP:0000007	Autosomal recessive inheritance	283987	HID1	OMIM:619983
HP:0000007	Autosomal recessive inheritance	55214	P3H2	OMIM:614292
HP:0000007	Autosomal recessive inheritance	497661	C18orf32	OMIM:619985
HP:0000007	Autosomal recessive inheritance	3612	IMPA1	OMIM:617323
HP:0000007	Autosomal recessive inheritance	56992	KIF15	OMIM:619981
HP:0000007	Autosomal recessive inheritance	23581	CASP14	OMIM:617320
HP:0000007	Autosomal recessive inheritance	388962	BOLA3	OMIM:614299
HP:0000007	Autosomal recessive inheritance	55521	TRIM36	OMIM:206500
HP:0000007	Autosomal recessive inheritance	9731	CEP104	OMIM:619988
HP:0000007	Autosomal recessive inheritance	9731	CEP104	OMIM:616781
HP:0000007	Autosomal recessive inheritance	55623	THUMPD1	OMIM:619989
HP:0000007	Autosomal recessive inheritance	105371045	PERCC1	OMIM:618662
HP:0000007	Autosomal recessive inheritance	23432	GPR161	OMIM:155255
HP:0000007	Autosomal recessive inheritance	1499	CTNNB1	OMIM:155255
HP:0000007	Autosomal recessive inheritance	8643	PTCH2	OMIM:155255
HP:0000007	Autosomal recessive inheritance	255101	CFAP65	OMIM:618664
HP:0000007	Autosomal recessive inheritance	29081	METTL5	OMIM:618665
HP:0000007	Autosomal recessive inheritance	54914	FOCAD	OMIM:619991
HP:0000007	Autosomal recessive inheritance	5792	PTPRF	OMIM:616001
HP:0000007	Autosomal recessive inheritance	2936	GSR	OMIM:618660
HP:0000007	Autosomal recessive inheritance	55699	IARS2	OMIM:616007
HP:0000007	Autosomal recessive inheritance	79633	FAT4	OMIM:616006
HP:0000007	Autosomal recessive inheritance	79633	FAT4	OMIM:615546
HP:0000007	Autosomal recessive inheritance	84665	MYPN	OMIM:617336
HP:0000007	Autosomal recessive inheritance	64240	ABCG5	OMIM:618666
HP:0000007	Autosomal recessive inheritance	4191	MDH2	OMIM:617339
HP:0000007	Autosomal recessive inheritance	166785	MMAA	OMIM:251100
HP:0000007	Autosomal recessive inheritance	2248	FGF3	OMIM:610706
HP:0000007	Autosomal recessive inheritance	5551	PRF1	OMIM:603553
HP:0000007	Autosomal recessive inheritance	8676	STX11	OMIM:603552
HP:0000007	Autosomal recessive inheritance	79991	STN1	OMIM:617341
HP:0000007	Autosomal recessive inheritance	118491	CFAP70	OMIM:618670
HP:0000007	Autosomal recessive inheritance	10297	APC2	OMIM:618677
HP:0000007	Autosomal recessive inheritance	10297	APC2	OMIM:617169
HP:0000007	Autosomal recessive inheritance	57104	PNPLA2	OMIM:610717
HP:0000007	Autosomal recessive inheritance	147409	DSG4	OMIM:607903
HP:0000007	Autosomal recessive inheritance	6324	SCN1B	OMIM:617350
HP:0000007	Autosomal recessive inheritance	9922	IQSEC1	OMIM:618687
HP:0000007	Autosomal recessive inheritance	284098	PIGW	OMIM:616025
HP:0000007	Autosomal recessive inheritance	4193	MDM2	OMIM:618681
HP:0000007	Autosomal recessive inheritance	84833	ATP5MK	OMIM:618683
HP:0000007	Autosomal recessive inheritance	84522	JAGN1	OMIM:616022
HP:0000007	Autosomal recessive inheritance	79977	GRHL2	OMIM:616029
HP:0000007	Autosomal recessive inheritance	2591	GALNT3	OMIM:211900
HP:0000007	Autosomal recessive inheritance	5213	PFKM	OMIM:232800
HP:0000007	Autosomal recessive inheritance	51196	PLCE1	OMIM:610725
HP:0000007	Autosomal recessive inheritance	345643	MCIDAS	OMIM:618695
HP:0000007	Autosomal recessive inheritance	133686	NADK2	OMIM:616034
HP:0000007	Autosomal recessive inheritance	93587	TRMT10A	OMIM:616033
HP:0000007	Autosomal recessive inheritance	1337	COX6A1	OMIM:616039
HP:0000007	Autosomal recessive inheritance	115948	ODAD3	OMIM:616037
HP:0000007	Autosomal recessive inheritance	10456	HAX1	OMIM:610738
HP:0000007	Autosomal recessive inheritance	23111	SPART	OMIM:275900
HP:0000007	Autosomal recessive inheritance	8504	PEX3	OMIM:617370
HP:0000007	Autosomal recessive inheritance	8504	PEX3	OMIM:614882
HP:0000007	Autosomal recessive inheritance	53405	CLIC5	OMIM:616042
HP:0000007	Autosomal recessive inheritance	23345	SYNE1	OMIM:610743
HP:0000007	Autosomal recessive inheritance	23345	SYNE1	OMIM:618484
HP:0000007	Autosomal recessive inheritance	56521	DNAJC12	OMIM:617384
HP:0000007	Autosomal recessive inheritance	100151683	RNU4ATAC	OMIM:226960
HP:0000007	Autosomal recessive inheritance	100151683	RNU4ATAC	OMIM:210710
HP:0000007	Autosomal recessive inheritance	100151683	RNU4ATAC	OMIM:616651
HP:0000007	Autosomal recessive inheritance	1062	CENPE	OMIM:616051
HP:0000007	Autosomal recessive inheritance	8867	SYNJ1	OMIM:617389
HP:0000007	Autosomal recessive inheritance	8867	SYNJ1	OMIM:615530
HP:0000007	Autosomal recessive inheritance	10126	DNAL4	OMIM:616059
HP:0000007	Autosomal recessive inheritance	9622	KLK4	OMIM:204700
HP:0000007	Autosomal recessive inheritance	2067	ERCC1	OMIM:610758
HP:0000007	Autosomal recessive inheritance	10166	SLC25A15	OMIM:238970
HP:0000007	Autosomal recessive inheritance	83999	KREMEN1	OMIM:617392
HP:0000007	Autosomal recessive inheritance	3938	LCT	OMIM:223000
HP:0000007	Autosomal recessive inheritance	10940	POP1	OMIM:617396
HP:0000007	Autosomal recessive inheritance	22796	COG2	OMIM:617395
HP:0000007	Autosomal recessive inheritance	1956	EGFR	OMIM:616069
HP:0000007	Autosomal recessive inheritance	3394	IRF8	OMIM:226990
HP:0000007	Autosomal recessive inheritance	11274	USP18	OMIM:617397
HP:0000007	Autosomal recessive inheritance	1585	CYP11B2	OMIM:203400
HP:0000007	Autosomal recessive inheritance	1585	CYP11B2	OMIM:610600
HP:0000007	Autosomal recessive inheritance	22845	DOLK	OMIM:610768
HP:0000007	Autosomal recessive inheritance	4864	NPC1	OMIM:257220
HP:0000007	Autosomal recessive inheritance	80324	PUS1	OMIM:600462
HP:0000007	Autosomal recessive inheritance	112812	FDX2	OMIM:251900
HP:0000007	Autosomal recessive inheritance	22873	DZIP1	OMIM:619102
HP:0000007	Autosomal recessive inheritance	9451	EIF2AK3	OMIM:226980
HP:0000007	Autosomal recessive inheritance	5277	PIGA	OMIM:300868
HP:0000007	Autosomal recessive inheritance	5395	PMS2	OMIM:619101
HP:0000007	Autosomal recessive inheritance	5250	SLC25A3	OMIM:610773
HP:0000007	Autosomal recessive inheritance	5000	ORC4	OMIM:613800
HP:0000007	Autosomal recessive inheritance	130951	M1AP	OMIM:619108
HP:0000007	Autosomal recessive inheritance	5158	PDE6B	OMIM:613801
HP:0000007	Autosomal recessive inheritance	81620	CDT1	OMIM:613804
HP:0000007	Autosomal recessive inheritance	23594	ORC6	OMIM:613803
HP:0000007	Autosomal recessive inheritance	990	CDC6	OMIM:613805
HP:0000007	Autosomal recessive inheritance	55036	CCDC40	OMIM:613808
HP:0000007	Autosomal recessive inheritance	339829	CCDC39	OMIM:613807
HP:0000007	Autosomal recessive inheritance	11340	EXOSC8	OMIM:616081
HP:0000007	Autosomal recessive inheritance	1021	CDK6	OMIM:616080
HP:0000007	Autosomal recessive inheritance	29895	MYL11	OMIM:619110
HP:0000007	Autosomal recessive inheritance	57545	CC2D2A	OMIM:619111
HP:0000007	Autosomal recessive inheritance	57545	CC2D2A	OMIM:619845
HP:0000007	Autosomal recessive inheritance	57545	CC2D2A	OMIM:612285
HP:0000007	Autosomal recessive inheritance	57545	CC2D2A	OMIM:612284
HP:0000007	Autosomal recessive inheritance	55526	DHTKD1	OMIM:204750
HP:0000007	Autosomal recessive inheritance	79005	SCNM1	OMIM:620107
HP:0000007	Autosomal recessive inheritance	51091	SEPSECS	OMIM:613811
HP:0000007	Autosomal recessive inheritance	5145	PDE6A	OMIM:613810
HP:0000007	Autosomal recessive inheritance	50846	DHH	OMIM:607080
HP:0000007	Autosomal recessive inheritance	50846	DHH	OMIM:233420
HP:0000007	Autosomal recessive inheritance	84839	RAX2	OMIM:620102
HP:0000007	Autosomal recessive inheritance	8468	FKBP6	OMIM:620103
HP:0000007	Autosomal recessive inheritance	4796	TONSL	OMIM:271510
HP:0000007	Autosomal recessive inheritance	79809	TTC21B	OMIM:613819
HP:0000007	Autosomal recessive inheritance	79809	TTC21B	OMIM:613820
HP:0000007	Autosomal recessive inheritance	113189	CHST14	OMIM:601776
HP:0000007	Autosomal recessive inheritance	2916	GRM6	OMIM:257270
HP:0000007	Autosomal recessive inheritance	2571	GAD1	OMIM:619124
HP:0000007	Autosomal recessive inheritance	8915	BCL10	OMIM:616098
HP:0000007	Autosomal recessive inheritance	90522	YIF1B	OMIM:619125
HP:0000007	Autosomal recessive inheritance	54790	TET2	OMIM:619126
HP:0000007	Autosomal recessive inheritance	10651	MTX2	OMIM:619127
HP:0000007	Autosomal recessive inheritance	6566	SLC16A1	OMIM:616095
HP:0000007	Autosomal recessive inheritance	55755	CDK5RAP2	OMIM:604804
HP:0000007	Autosomal recessive inheritance	6472	SHMT2	OMIM:619121
HP:0000007	Autosomal recessive inheritance	90416	CCDC32	OMIM:619123
HP:0000007	Autosomal recessive inheritance	10161	LPAR6	OMIM:278150
HP:0000007	Autosomal recessive inheritance	284086	NEK8	OMIM:613824
HP:0000007	Autosomal recessive inheritance	284086	NEK8	OMIM:615415
HP:0000007	Autosomal recessive inheritance	28956	LAMTOR2	OMIM:610798
HP:0000007	Autosomal recessive inheritance	118924	FRA10AC1	OMIM:620113
HP:0000007	Autosomal recessive inheritance	23169	SLC35D1	OMIM:269250
HP:0000007	Autosomal recessive inheritance	22995	CEP152	OMIM:613823
HP:0000007	Autosomal recessive inheritance	22995	CEP152	OMIM:614852
HP:0000007	Autosomal recessive inheritance	57096	RPGRIP1	OMIM:613826
HP:0000007	Autosomal recessive inheritance	57096	RPGRIP1	OMIM:608194
HP:0000007	Autosomal recessive inheritance	57020	VPS35L	OMIM:619135
HP:0000007	Autosomal recessive inheritance	11014	KDELR2	OMIM:619131
HP:0000007	Autosomal recessive inheritance	57152	SLURP1	OMIM:248300
HP:0000007	Autosomal recessive inheritance	55835	CPAP	OMIM:608393
HP:0000007	Autosomal recessive inheritance	55835	CPAP	OMIM:613676
HP:0000007	Autosomal recessive inheritance	100	ADA	OMIM:102700
HP:0000007	Autosomal recessive inheritance	383	ARG1	OMIM:207800
HP:0000007	Autosomal recessive inheritance	9187	SLC24A1	OMIM:613830
HP:0000007	Autosomal recessive inheritance	6340	SCNN1G	OMIM:620126
HP:0000007	Autosomal recessive inheritance	6338	SCNN1B	OMIM:620125
HP:0000007	Autosomal recessive inheritance	1719	DHFR	OMIM:613839
HP:0000007	Autosomal recessive inheritance	224	ALDH3A2	OMIM:270200
HP:0000007	Autosomal recessive inheritance	7516	XRCC2	OMIM:619146
HP:0000007	Autosomal recessive inheritance	7516	XRCC2	OMIM:619145
HP:0000007	Autosomal recessive inheritance	7516	XRCC2	OMIM:617247
HP:0000007	Autosomal recessive inheritance	5626	PROP1	OMIM:262600
HP:0000007	Autosomal recessive inheritance	1586	CYP17A1	OMIM:202110
HP:0000007	Autosomal recessive inheritance	159686	CFAP58	OMIM:619144
HP:0000007	Autosomal recessive inheritance	375298	CERKL	OMIM:608380
HP:0000007	Autosomal recessive inheritance	132001	TAMM41	OMIM:620139
HP:0000007	Autosomal recessive inheritance	7388	UQCRH	OMIM:620137
HP:0000007	Autosomal recessive inheritance	7389	UROD	OMIM:176100
HP:0000007	Autosomal recessive inheritance	90523	MLIP	OMIM:620138
HP:0000007	Autosomal recessive inheritance	4713	NDUFB7	OMIM:620135
HP:0000007	Autosomal recessive inheritance	54938	SARS2	OMIM:613845
HP:0000007	Autosomal recessive inheritance	871	SERPINH1	OMIM:613848
HP:0000007	Autosomal recessive inheritance	64858	DCLRE1B	OMIM:620133
HP:0000007	Autosomal recessive inheritance	26275	HIBCH	OMIM:250620
HP:0000007	Autosomal recessive inheritance	50640	PNPLA8	OMIM:251950
HP:0000007	Autosomal recessive inheritance	55172	DNAAF2	OMIM:612518
HP:0000007	Autosomal recessive inheritance	121340	SP7	OMIM:613849
HP:0000007	Autosomal recessive inheritance	84189	SLITRK6	OMIM:221200
HP:0000007	Autosomal recessive inheritance	126326	GIPC3	OMIM:601869
HP:0000007	Autosomal recessive inheritance	8838	CCN6	OMIM:208230
HP:0000007	Autosomal recessive inheritance	51181	DCXR	OMIM:260800
HP:0000007	Autosomal recessive inheritance	83700	JAM3	OMIM:613730
HP:0000007	Autosomal recessive inheritance	7109	TRAPPC10	OMIM:620027
HP:0000007	Autosomal recessive inheritance	55325	UFSP2	OMIM:620028
HP:0000007	Autosomal recessive inheritance	8854	ALDH1A2	OMIM:620025
HP:0000007	Autosomal recessive inheritance	1119	CHKA	OMIM:620023
HP:0000007	Autosomal recessive inheritance	8496	PPFIBP1	OMIM:620024
HP:0000007	Autosomal recessive inheritance	118987	PDZD8	OMIM:620021
HP:0000007	Autosomal recessive inheritance	1299	COL9A3	OMIM:620022
HP:0000007	Autosomal recessive inheritance	501	ALDH7A1	OMIM:266100
HP:0000007	Autosomal recessive inheritance	3073	HEXA	OMIM:272800
HP:0000007	Autosomal recessive inheritance	6840	SVIL	OMIM:619040
HP:0000007	Autosomal recessive inheritance	1636	ACE	OMIM:267430
HP:0000007	Autosomal recessive inheritance	183	AGT	OMIM:267430
HP:0000007	Autosomal recessive inheritance	185	AGTR1	OMIM:267430
HP:0000007	Autosomal recessive inheritance	5972	REN	OMIM:267430
HP:0000007	Autosomal recessive inheritance	6341	SCO1	OMIM:619048
HP:0000007	Autosomal recessive inheritance	162	AP1B1	OMIM:242150
HP:0000007	Autosomal recessive inheritance	201134	CEP112	OMIM:619044
HP:0000007	Autosomal recessive inheritance	1352	COX10	OMIM:619046
HP:0000007	Autosomal recessive inheritance	57674	RNF213	OMIM:607151
HP:0000007	Autosomal recessive inheritance	5689	PSMB1	OMIM:620038
HP:0000007	Autosomal recessive inheritance	23431	AP4E1	OMIM:613744
HP:0000007	Autosomal recessive inheritance	2160	F11	OMIM:612416
HP:0000007	Autosomal recessive inheritance	8382	NME5	OMIM:620032
HP:0000007	Autosomal recessive inheritance	63908	NAPB	OMIM:620033
HP:0000007	Autosomal recessive inheritance	1340	COX6B1	OMIM:619051
HP:0000007	Autosomal recessive inheritance	51204	TACO1	OMIM:619052
HP:0000007	Autosomal recessive inheritance	84987	COX14	OMIM:619053
HP:0000007	Autosomal recessive inheritance	28958	COA3	OMIM:619058
HP:0000007	Autosomal recessive inheritance	10216	PRG4	OMIM:208250
HP:0000007	Autosomal recessive inheritance	1351	COX8A	OMIM:619059
HP:0000007	Autosomal recessive inheritance	116228	COX20	OMIM:619054
HP:0000007	Autosomal recessive inheritance	100131801	PET100	OMIM:619055
HP:0000007	Autosomal recessive inheritance	55037	PTCD3	OMIM:619057
HP:0000007	Autosomal recessive inheritance	1136	CHRNA3	OMIM:191800
HP:0000007	Autosomal recessive inheritance	191	AHCY	OMIM:613752
HP:0000007	Autosomal recessive inheritance	340024	SLC6A19	OMIM:234500
HP:0000007	Autosomal recessive inheritance	3818	KLKB1	OMIM:612423
HP:0000007	Autosomal recessive inheritance	3911	LAMA5	OMIM:620049
HP:0000007	Autosomal recessive inheritance	3911	LAMA5	OMIM:620076
HP:0000007	Autosomal recessive inheritance	10015	PDCD6IP	OMIM:620047
HP:0000007	Autosomal recessive inheritance	8772	FADD	OMIM:613759
HP:0000007	Autosomal recessive inheritance	1854	DUT	OMIM:620044
HP:0000007	Autosomal recessive inheritance	79087	ALG12	OMIM:607143
HP:0000007	Autosomal recessive inheritance	84334	COA8	OMIM:619061
HP:0000007	Autosomal recessive inheritance	1339	COX6A2	OMIM:619062
HP:0000007	Autosomal recessive inheritance	100303755	PET117	OMIM:619063
HP:0000007	Autosomal recessive inheritance	9377	COX5A	OMIM:619064
HP:0000007	Autosomal recessive inheritance	1327	COX4I1	OMIM:619060
HP:0000007	Autosomal recessive inheritance	4697	NDUFA4	OMIM:619065
HP:0000007	Autosomal recessive inheritance	10282	BET1	OMIM:254100
HP:0000007	Autosomal recessive inheritance	1258	CNGB1	OMIM:613767
HP:0000007	Autosomal recessive inheritance	55157	DARS2	OMIM:611105
HP:0000007	Autosomal recessive inheritance	5995	RGR	OMIM:613769
HP:0000007	Autosomal recessive inheritance	144165	PRICKLE1	OMIM:612437
HP:0000007	Autosomal recessive inheritance	9333	TGM5	OMIM:609796
HP:0000007	Autosomal recessive inheritance	23265	EXOC7	OMIM:619072
HP:0000007	Autosomal recessive inheritance	1802	DPH2	OMIM:620062
HP:0000007	Autosomal recessive inheritance	2615	LRRC32	OMIM:619074
HP:0000007	Autosomal recessive inheritance	3767	KCNJ11	OMIM:601820
HP:0000007	Autosomal recessive inheritance	5091	PC	OMIM:266150
HP:0000007	Autosomal recessive inheritance	1267	CNP	OMIM:619071
HP:0000007	Autosomal recessive inheritance	149371	EXOC8	OMIM:619076
HP:0000007	Autosomal recessive inheritance	4035	LRP1	OMIM:604093
HP:0000007	Autosomal recessive inheritance	64446	DNAI2	OMIM:612444
HP:0000007	Autosomal recessive inheritance	285175	UNC80	OMIM:616801
HP:0000007	Autosomal recessive inheritance	729	C6	OMIM:612446
HP:0000007	Autosomal recessive inheritance	4595	MUTYH	OMIM:608456
HP:0000007	Autosomal recessive inheritance	718	C3	OMIM:613779
HP:0000007	Autosomal recessive inheritance	171019	ADAMTS19	OMIM:620067
HP:0000007	Autosomal recessive inheritance	83475	DOHH	OMIM:620066
HP:0000007	Autosomal recessive inheritance	84992	PIGY	OMIM:616809
HP:0000007	Autosomal recessive inheritance	55027	HEATR3	OMIM:620072
HP:0000007	Autosomal recessive inheritance	5700	PSMC1	OMIM:620071
HP:0000007	Autosomal recessive inheritance	6558	SLC12A2	OMIM:619080
HP:0000007	Autosomal recessive inheritance	79816	TLE6	OMIM:616814
HP:0000007	Autosomal recessive inheritance	11149	POPDC1	OMIM:616812
HP:0000007	Autosomal recessive inheritance	732	C8B	OMIM:613789
HP:0000007	Autosomal recessive inheritance	28976	ACAD9	OMIM:611126
HP:0000007	Autosomal recessive inheritance	25828	TXN2	OMIM:616811
HP:0000007	Autosomal recessive inheritance	84919	PPP1R15B	OMIM:616817
HP:0000007	Autosomal recessive inheritance	51244	CCDC174	OMIM:616816
HP:0000007	Autosomal recessive inheritance	54862	CC2D1A	OMIM:608443
HP:0000007	Autosomal recessive inheritance	55691	FRMD4A	OMIM:616819
HP:0000007	Autosomal recessive inheritance	10430	TMEM147	OMIM:620075
HP:0000007	Autosomal recessive inheritance	146754	DNAH2	OMIM:619094
HP:0000007	Autosomal recessive inheritance	91057	CCDC34	OMIM:620084
HP:0000007	Autosomal recessive inheritance	1769	DNAH8	OMIM:619095
HP:0000007	Autosomal recessive inheritance	4436	MSH2	OMIM:619096
HP:0000007	Autosomal recessive inheritance	2956	MSH6	OMIM:619097
HP:0000007	Autosomal recessive inheritance	4677	NARS1	OMIM:619091
HP:0000007	Autosomal recessive inheritance	9080	CLDN9	OMIM:619093
HP:0000007	Autosomal recessive inheritance	731	C8A	OMIM:613790
HP:0000007	Autosomal recessive inheritance	9147	NEMF	OMIM:619099
HP:0000007	Autosomal recessive inheritance	10747	MASP2	OMIM:613791
HP:0000007	Autosomal recessive inheritance	6121	RPE65	OMIM:613794
HP:0000007	Autosomal recessive inheritance	6121	RPE65	OMIM:204100
HP:0000007	Autosomal recessive inheritance	10002	NR2E3	OMIM:611131
HP:0000007	Autosomal recessive inheritance	10002	NR2E3	OMIM:268100
HP:0000007	Autosomal recessive inheritance	1604	CD55	OMIM:613793
HP:0000007	Autosomal recessive inheritance	1604	CD55	OMIM:226300
HP:0000007	Autosomal recessive inheritance	6772	STAT1	OMIM:613796
HP:0000007	Autosomal recessive inheritance	147007	TMEM199	OMIM:616829
HP:0000007	Autosomal recessive inheritance	84317	CCDC115	OMIM:616828
HP:0000007	Autosomal recessive inheritance	53904	MYO3A	OMIM:607101
HP:0000007	Autosomal recessive inheritance	55679	LIMS2	OMIM:616827
HP:0000007	Autosomal recessive inheritance	3954	LETM1	OMIM:620089
HP:0000007	Autosomal recessive inheritance	51251	NT5C3A	OMIM:266120
HP:0000007	Autosomal recessive inheritance	2581	GALC	OMIM:245200
HP:0000007	Autosomal recessive inheritance	56683	CFAP298	OMIM:615500
HP:0000007	Autosomal recessive inheritance	10243	GPHN	OMIM:615501
HP:0000007	Autosomal recessive inheritance	10243	GPHN	OMIM:149400
HP:0000007	Autosomal recessive inheritance	80207	OPA3	OMIM:258501
HP:0000007	Autosomal recessive inheritance	85478	CCDC65	OMIM:615504
HP:0000007	Autosomal recessive inheritance	6674	SPAG1	OMIM:615505
HP:0000007	Autosomal recessive inheritance	6307	MSMO1	OMIM:616834
HP:0000007	Autosomal recessive inheritance	55112	DYNC2I1	OMIM:615503
HP:0000007	Autosomal recessive inheritance	1828	DSG1	OMIM:615508
HP:0000007	Autosomal recessive inheritance	81034	SLC25A32	OMIM:616839
HP:0000007	Autosomal recessive inheritance	5376	PMP22	OMIM:145900
HP:0000007	Autosomal recessive inheritance	4359	MPZ	OMIM:145900
HP:0000007	Autosomal recessive inheritance	1959	EGR2	OMIM:145900
HP:0000007	Autosomal recessive inheritance	1959	EGR2	OMIM:605253
HP:0000007	Autosomal recessive inheritance	57716	PRX	OMIM:145900
HP:0000007	Autosomal recessive inheritance	57716	PRX	OMIM:614895
HP:0000007	Autosomal recessive inheritance	8787	RGS9	OMIM:608415
HP:0000007	Autosomal recessive inheritance	270	AMPD1	OMIM:615511
HP:0000007	Autosomal recessive inheritance	9780	PIEZO1	OMIM:616843
HP:0000007	Autosomal recessive inheritance	4907	NT5E	OMIM:211800
HP:0000007	Autosomal recessive inheritance	7167	TPI1	OMIM:615512
HP:0000007	Autosomal recessive inheritance	29926	GMPPA	OMIM:615510
HP:0000007	Autosomal recessive inheritance	54832	VPS13C	OMIM:616840
HP:0000007	Autosomal recessive inheritance	8924	HERC2	OMIM:615516
HP:0000007	Autosomal recessive inheritance	1417	CRYBB3	OMIM:609741
HP:0000007	Autosomal recessive inheritance	10	NAT2	OMIM:243400
HP:0000007	Autosomal recessive inheritance	5443	POMC	OMIM:609734
HP:0000007	Autosomal recessive inheritance	5443	POMC	OMIM:601665
HP:0000007	Autosomal recessive inheritance	948	CD36	OMIM:608404
HP:0000007	Autosomal recessive inheritance	3313	HSPA9	OMIM:616854
HP:0000007	Autosomal recessive inheritance	23094	SIPA1L3	OMIM:616851
HP:0000007	Autosomal recessive inheritance	10758	TRAF3IP2	OMIM:615527
HP:0000007	Autosomal recessive inheritance	5915	RARB	OMIM:615524
HP:0000007	Autosomal recessive inheritance	9829	DNAJC6	OMIM:615528
HP:0000007	Autosomal recessive inheritance	51218	GLRX5	OMIM:616859
HP:0000007	Autosomal recessive inheritance	51218	GLRX5	OMIM:616860
HP:0000007	Autosomal recessive inheritance	10265	IRX5	OMIM:611174
HP:0000007	Autosomal recessive inheritance	11253	MAN1B1	OMIM:614202
HP:0000007	Autosomal recessive inheritance	10841	FTCD	OMIM:229100
HP:0000007	Autosomal recessive inheritance	55806	HR	OMIM:209500
HP:0000007	Autosomal recessive inheritance	55806	HR	OMIM:203655
HP:0000007	Autosomal recessive inheritance	51206	GP6	OMIM:614201
HP:0000007	Autosomal recessive inheritance	27315	PGAP2	OMIM:614207
HP:0000007	Autosomal recessive inheritance	6550	SLC9A3	OMIM:616868
HP:0000007	Autosomal recessive inheritance	51008	ASCC1	OMIM:616867
HP:0000007	Autosomal recessive inheritance	26525	IL36RN	OMIM:614204
HP:0000007	Autosomal recessive inheritance	83987	CCDC8	OMIM:614205
HP:0000007	Autosomal recessive inheritance	29940	DSE	OMIM:615539
HP:0000007	Autosomal recessive inheritance	27077	B9D1	OMIM:614209
HP:0000007	Autosomal recessive inheritance	27077	B9D1	OMIM:617120
HP:0000007	Autosomal recessive inheritance	4594	MMUT	OMIM:251000
HP:0000007	Autosomal recessive inheritance	23400	ATP13A2	OMIM:606693
HP:0000007	Autosomal recessive inheritance	23400	ATP13A2	OMIM:617225
HP:0000007	Autosomal recessive inheritance	163183	SYNE4	OMIM:615540
HP:0000007	Autosomal recessive inheritance	84342	COG8	OMIM:611182
HP:0000007	Autosomal recessive inheritance	80185	TTI2	OMIM:615541
HP:0000007	Autosomal recessive inheritance	3293	HSD17B3	OMIM:264300
HP:0000007	Autosomal recessive inheritance	7289	TULP3	OMIM:619902
HP:0000007	Autosomal recessive inheritance	23065	EMC1	OMIM:616875
HP:0000007	Autosomal recessive inheritance	128989	TANGO2	OMIM:616878
HP:0000007	Autosomal recessive inheritance	57572	DOCK6	OMIM:614219
HP:0000007	Autosomal recessive inheritance	7074	TIAM1	OMIM:619908
HP:0000007	Autosomal recessive inheritance	59336	PRDM13	OMIM:619909
HP:0000007	Autosomal recessive inheritance	59336	PRDM13	OMIM:619761
HP:0000007	Autosomal recessive inheritance	59344	ALOXE3	OMIM:242100
HP:0000007	Autosomal recessive inheritance	59344	ALOXE3	OMIM:606545
HP:0000007	Autosomal recessive inheritance	242	ALOX12B	OMIM:242100
HP:0000007	Autosomal recessive inheritance	51501	HIKESHI	OMIM:616881
HP:0000007	Autosomal recessive inheritance	3490	IGFBP7	OMIM:614224
HP:0000007	Autosomal recessive inheritance	5618	PRLR	OMIM:615555
HP:0000007	Autosomal recessive inheritance	81562	LMAN2L	OMIM:616887
HP:0000007	Autosomal recessive inheritance	22931	RAB18	OMIM:614222
HP:0000007	Autosomal recessive inheritance	23443	SLC35A3	OMIM:615553
HP:0000007	Autosomal recessive inheritance	940	CD28	OMIM:620901
HP:0000007	Autosomal recessive inheritance	5580	PRKCD	OMIM:615559
HP:0000007	Autosomal recessive inheritance	255928	SYT14	OMIM:614229
HP:0000007	Autosomal recessive inheritance	338	APOB	OMIM:615558
HP:0000007	Autosomal recessive inheritance	23209	MLC1	OMIM:604004
HP:0000007	Autosomal recessive inheritance	51124	IER3IP1	OMIM:614231
HP:0000007	Autosomal recessive inheritance	23165	NUP205	OMIM:616893
HP:0000007	Autosomal recessive inheritance	5075	PAX1	OMIM:615560
HP:0000007	Autosomal recessive inheritance	9688	NUP93	OMIM:616892
HP:0000007	Autosomal recessive inheritance	629	CFB	OMIM:615561
HP:0000007	Autosomal recessive inheritance	5788	PTPRC	OMIM:619924
HP:0000007	Autosomal recessive inheritance	202018	TAPT1	OMIM:616897
HP:0000007	Autosomal recessive inheritance	4976	OPA1	OMIM:616896
HP:0000007	Autosomal recessive inheritance	4976	OPA1	OMIM:210000
HP:0000007	Autosomal recessive inheritance	4751	NEK2	OMIM:615565
HP:0000007	Autosomal recessive inheritance	2741	GLRA1	OMIM:149400
HP:0000007	Autosomal recessive inheritance	55164	SHQ1	OMIM:619921
HP:0000007	Autosomal recessive inheritance	55164	SHQ1	OMIM:619922
HP:0000007	Autosomal recessive inheritance	27232	GNMT	OMIM:606664
HP:0000007	Autosomal recessive inheritance	6337	SCNN1A	OMIM:264350
HP:0000007	Autosomal recessive inheritance	79934	COQ8B	OMIM:615573
HP:0000007	Autosomal recessive inheritance	440	ASNS	OMIM:615574
HP:0000007	Autosomal recessive inheritance	5538	PPT1	OMIM:256730
HP:0000007	Autosomal recessive inheritance	3454	IFNAR1	OMIM:619935
HP:0000007	Autosomal recessive inheritance	1203	CLN5	OMIM:256731
HP:0000007	Autosomal recessive inheritance	119559	SFXN4	OMIM:615578
HP:0000007	Autosomal recessive inheritance	738	VPS51	OMIM:618606
HP:0000007	Autosomal recessive inheritance	4438	MSH4	OMIM:619938
HP:0000007	Autosomal recessive inheritance	4438	MSH4	OMIM:108420
HP:0000007	Autosomal recessive inheritance	2890	GRIA1	OMIM:619931
HP:0000007	Autosomal recessive inheritance	9439	MED23	OMIM:614249
HP:0000007	Autosomal recessive inheritance	4292	MLH1	OMIM:276300
HP:0000007	Autosomal recessive inheritance	101929726	MYMX	OMIM:619941
HP:0000007	Autosomal recessive inheritance	3034	HAL	OMIM:235800
HP:0000007	Autosomal recessive inheritance	4254	KITLG	OMIM:619947
HP:0000007	Autosomal recessive inheritance	158401	SHOC1	OMIM:619949
HP:0000007	Autosomal recessive inheritance	57670	KIAA1549	OMIM:618613
HP:0000007	Autosomal recessive inheritance	3651	PDX1	OMIM:260370
HP:0000007	Autosomal recessive inheritance	7428	VHL	OMIM:263400
HP:0000007	Autosomal recessive inheritance	26235	FBXL4	OMIM:615471
HP:0000007	Autosomal recessive inheritance	125150	ZSWIM7	OMIM:619831
HP:0000007	Autosomal recessive inheritance	125150	ZSWIM7	OMIM:619834
HP:0000007	Autosomal recessive inheritance	5993	RFX5	OMIM:620818
HP:0000007	Autosomal recessive inheritance	5993	RFX5	OMIM:620816
HP:0000007	Autosomal recessive inheritance	5994	RFXAP	OMIM:620817
HP:0000007	Autosomal recessive inheritance	23308	ICOSLG	OMIM:620825
HP:0000007	Autosomal recessive inheritance	23334	SZT2	OMIM:615476
HP:0000007	Autosomal recessive inheritance	9254	CACNA2D2	OMIM:618501
HP:0000007	Autosomal recessive inheritance	4897	NRCAM	OMIM:619833
HP:0000007	Autosomal recessive inheritance	91801	ALKBH8	OMIM:618504
HP:0000007	Autosomal recessive inheritance	54332	GDAP1	OMIM:607831
HP:0000007	Autosomal recessive inheritance	54332	GDAP1	OMIM:214400
HP:0000007	Autosomal recessive inheritance	54332	GDAP1	OMIM:608340
HP:0000007	Autosomal recessive inheritance	54332	GDAP1	OMIM:607706
HP:0000007	Autosomal recessive inheritance	56704	JPH1	OMIM:607831
HP:0000007	Autosomal recessive inheritance	197131	UBR1	OMIM:243800
HP:0000007	Autosomal recessive inheritance	89765	RSPH1	OMIM:615481
HP:0000007	Autosomal recessive inheritance	161582	DNAAF4	OMIM:615482
HP:0000007	Autosomal recessive inheritance	4210	MEFV	OMIM:249100
HP:0000007	Autosomal recessive inheritance	8566	PDXK	OMIM:618511
HP:0000007	Autosomal recessive inheritance	1841	DTYMK	OMIM:619847
HP:0000007	Autosomal recessive inheritance	644	BLVRA	OMIM:614156
HP:0000007	Autosomal recessive inheritance	84936	ZFYVE19	OMIM:619849
HP:0000007	Autosomal recessive inheritance	318	NUDT2	OMIM:619844
HP:0000007	Autosomal recessive inheritance	85015	USP45	OMIM:618513
HP:0000007	Autosomal recessive inheritance	24142	NAA80	OMIM:620830
HP:0000007	Autosomal recessive inheritance	56259	CTNNBL1	OMIM:619846
HP:0000007	Autosomal recessive inheritance	2188	FANCF	OMIM:603467
HP:0000007	Autosomal recessive inheritance	4646	MYO6	OMIM:607821
HP:0000007	Autosomal recessive inheritance	54345	SOX18	OMIM:607823
HP:0000007	Autosomal recessive inheritance	288	ANK3	OMIM:615493
HP:0000007	Autosomal recessive inheritance	23321	TRIM2	OMIM:615490
HP:0000007	Autosomal recessive inheritance	7345	UCHL1	OMIM:615491
HP:0000007	Autosomal recessive inheritance	2660	MSTN	OMIM:614160
HP:0000007	Autosomal recessive inheritance	5105	PCK1	OMIM:261680
HP:0000007	Autosomal recessive inheritance	881	CCIN	OMIM:620838
HP:0000007	Autosomal recessive inheritance	2876	GPX1	OMIM:614164
HP:0000007	Autosomal recessive inheritance	283652	SLC24A5	OMIM:113750
HP:0000007	Autosomal recessive inheritance	1777	DNASE2	OMIM:619858
HP:0000007	Autosomal recessive inheritance	10233	LRRC23	OMIM:620848
HP:0000007	Autosomal recessive inheritance	10606	PAICS	OMIM:619859
HP:0000007	Autosomal recessive inheritance	64359	NXN	OMIM:618529
HP:0000007	Autosomal recessive inheritance	3572	IL6ST	OMIM:618523
HP:0000007	Autosomal recessive inheritance	3572	IL6ST	OMIM:619751
HP:0000007	Autosomal recessive inheritance	79140	CCDC28B	OMIM:209900
HP:0000007	Autosomal recessive inheritance	582	BBS1	OMIM:209900
HP:0000007	Autosomal recessive inheritance	221711	SYCP2L	OMIM:620840
HP:0000007	Autosomal recessive inheritance	10484	SEC23A	OMIM:607812
HP:0000007	Autosomal recessive inheritance	79600	TCTN1	OMIM:614173
HP:0000007	Autosomal recessive inheritance	10935	PRDX3	OMIM:619862
HP:0000007	Autosomal recessive inheritance	11107	PRDM5	OMIM:614170
HP:0000007	Autosomal recessive inheritance	26258	BLOC1S6	OMIM:614171
HP:0000007	Autosomal recessive inheritance	1594	CYP27B1	OMIM:264700
HP:0000007	Autosomal recessive inheritance	5224	PGAM2	OMIM:261670
HP:0000007	Autosomal recessive inheritance	65975	STK33	OMIM:620849
HP:0000007	Autosomal recessive inheritance	80776	B9D2	OMIM:614175
HP:0000007	Autosomal recessive inheritance	8550	MAPKAPK5	OMIM:619869
HP:0000007	Autosomal recessive inheritance	168507	PKD1L1	OMIM:617205
HP:0000007	Autosomal recessive inheritance	1201	CLN3	OMIM:204200
HP:0000007	Autosomal recessive inheritance	10125	RASGRP1	OMIM:618534
HP:0000007	Autosomal recessive inheritance	1474	CST6	OMIM:618535
HP:0000007	Autosomal recessive inheritance	11193	WBP4	OMIM:620852
HP:0000007	Autosomal recessive inheritance	57639	CCDC146	OMIM:620850
HP:0000007	Autosomal recessive inheritance	126410	CYP4F22	OMIM:604777
HP:0000007	Autosomal recessive inheritance	4117	MAK	OMIM:614181
HP:0000007	Autosomal recessive inheritance	8482	SEMA7A	OMIM:619874
HP:0000007	Autosomal recessive inheritance	23729	SHPK	OMIM:617213
HP:0000007	Autosomal recessive inheritance	3590	IL11RA	OMIM:614188
HP:0000007	Autosomal recessive inheritance	3769	KCNJ13	OMIM:614186
HP:0000007	Autosomal recessive inheritance	8111	GPR68	OMIM:617217
HP:0000007	Autosomal recessive inheritance	10068	IL18BP	OMIM:618549
HP:0000007	Autosomal recessive inheritance	4261	CIITA	OMIM:209920
HP:0000007	Autosomal recessive inheritance	89869	PLCZ1	OMIM:617214
HP:0000007	Autosomal recessive inheritance	51692	CPSF3	OMIM:619876
HP:0000007	Autosomal recessive inheritance	6897	TARS1	OMIM:618546
HP:0000007	Autosomal recessive inheritance	116115	ZNF526	OMIM:619877
HP:0000007	Autosomal recessive inheritance	54456	MOV10L1	OMIM:619878
HP:0000007	Autosomal recessive inheritance	79770	TXNDC15	OMIM:619879
HP:0000007	Autosomal recessive inheritance	9091	PIGQ	OMIM:618548
HP:0000007	Autosomal recessive inheritance	27068	PPA2	OMIM:617223
HP:0000007	Autosomal recessive inheritance	27068	PPA2	OMIM:617222
HP:0000007	Autosomal recessive inheritance	5800	PTPRO	OMIM:614196
HP:0000007	Autosomal recessive inheritance	10991	SLC38A3	OMIM:619881
HP:0000007	Autosomal recessive inheritance	4285	MIPEP	OMIM:617228
HP:0000007	Autosomal recessive inheritance	641	BLM	OMIM:210900
HP:0000007	Autosomal recessive inheritance	2674	GFRA1	OMIM:619887
HP:0000007	Autosomal recessive inheritance	2620	GAS2	OMIM:620877
HP:0000007	Autosomal recessive inheritance	23007	PLCH1	OMIM:619895
HP:0000007	Autosomal recessive inheritance	442721	LMOD2	OMIM:619897
HP:0000007	Autosomal recessive inheritance	353238	PADI6	OMIM:617234
HP:0000007	Autosomal recessive inheritance	56983	POGLUT1	OMIM:617232
HP:0000007	Autosomal recessive inheritance	6572	SLC18A3	OMIM:617239
HP:0000007	Autosomal recessive inheritance	84131	CEP78	OMIM:617236
HP:0000007	Autosomal recessive inheritance	29960	MRM2	OMIM:618567
HP:0000007	Autosomal recessive inheritance	374969	SVBP	OMIM:618569
HP:0000007	Autosomal recessive inheritance	2184	FAH	OMIM:276700
HP:0000007	Autosomal recessive inheritance	29110	TBK1	OMIM:620880
HP:0000007	Autosomal recessive inheritance	845	CASQ2	OMIM:611938
HP:0000007	Autosomal recessive inheritance	6476	SI	OMIM:222900
HP:0000007	Autosomal recessive inheritance	56160	NSMCE3	OMIM:617241
HP:0000007	Autosomal recessive inheritance	26173	INTS1	OMIM:618571
HP:0000007	Autosomal recessive inheritance	55656	INTS8	OMIM:618572
HP:0000007	Autosomal recessive inheritance	10459	MAD2L2	OMIM:617243
HP:0000007	Autosomal recessive inheritance	7201	TRHR	OMIM:618573
HP:0000007	Autosomal recessive inheritance	27429	HTRA2	OMIM:617248
HP:0000007	Autosomal recessive inheritance	5081	PAX7	OMIM:618578
HP:0000007	Autosomal recessive inheritance	78995	HROB	OMIM:620897
HP:0000007	Autosomal recessive inheritance	3242	HPD	OMIM:276710
HP:0000007	Autosomal recessive inheritance	165918	RNF168	OMIM:611943
HP:0000007	Autosomal recessive inheritance	343035	RD3	OMIM:610612
HP:0000007	Autosomal recessive inheritance	410	ARSA	OMIM:250100
HP:0000007	Autosomal recessive inheritance	3321	IGSF3	OMIM:149700
HP:0000007	Autosomal recessive inheritance	9361	LONP1	OMIM:600373
HP:0000007	Autosomal recessive inheritance	9488	PIGB	OMIM:618580
HP:0000007	Autosomal recessive inheritance	2266	FGG	OMIM:202400
HP:0000007	Autosomal recessive inheritance	2243	FGA	OMIM:202400
HP:0000007	Autosomal recessive inheritance	2244	FGB	OMIM:202400
HP:0000007	Autosomal recessive inheritance	286053	NSMCE2	OMIM:617253
HP:0000007	Autosomal recessive inheritance	7062	TCHH	OMIM:617252
HP:0000007	Autosomal recessive inheritance	7053	TGM3	OMIM:617251
HP:0000007	Autosomal recessive inheritance	160418	TMTC3	OMIM:617255
HP:0000007	Autosomal recessive inheritance	79912	PYROXD1	OMIM:617258
HP:0000007	Autosomal recessive inheritance	4967	OGDH	OMIM:203740
HP:0000007	Autosomal recessive inheritance	5309	PITX3	OMIM:610623
HP:0000007	Autosomal recessive inheritance	2161	F12	OMIM:234000
HP:0000007	Autosomal recessive inheritance	128869	PIGU	OMIM:618590
HP:0000007	Autosomal recessive inheritance	10677	AVIL	OMIM:618594
HP:0000007	Autosomal recessive inheritance	5053	PAH	OMIM:261600
HP:0000007	Autosomal recessive inheritance	427	ASAH1	OMIM:159950
HP:0000007	Autosomal recessive inheritance	427	ASAH1	OMIM:228000
HP:0000007	Autosomal recessive inheritance	23005	MAPKBP1	OMIM:617271
HP:0000007	Autosomal recessive inheritance	55250	ELP2	OMIM:617270
HP:0000007	Autosomal recessive inheritance	6777	STAT5B	OMIM:245590
HP:0000007	Autosomal recessive inheritance	4998	ORC1	OMIM:224690
HP:0000007	Autosomal recessive inheritance	1621	DBH	OMIM:223360
HP:0000007	Autosomal recessive inheritance	8120	AP3B2	OMIM:617276
HP:0000007	Autosomal recessive inheritance	284654	RSPO1	OMIM:610644
HP:0000007	Autosomal recessive inheritance	549	AUH	OMIM:250950
HP:0000007	Autosomal recessive inheritance	1009	CDH11	OMIM:211380
HP:0000007	Autosomal recessive inheritance	6821	SUOX	OMIM:272300
HP:0000007	Autosomal recessive inheritance	6557	SLC12A1	OMIM:601678
HP:0000007	Autosomal recessive inheritance	23258	DENND5A	OMIM:617281
HP:0000007	Autosomal recessive inheritance	2009	EML1	OMIM:600348
HP:0000007	Autosomal recessive inheritance	55630	SLC39A4	OMIM:201100
HP:0000007	Autosomal recessive inheritance	38	ACAT1	OMIM:203750
HP:0000007	Autosomal recessive inheritance	4548	MTR	OMIM:250940
HP:0000007	Autosomal recessive inheritance	4548	MTR	OMIM:601634
HP:0000007	Autosomal recessive inheritance	155	ADRB3	OMIM:601665
HP:0000007	Autosomal recessive inheritance	7352	UCP3	OMIM:601665
HP:0000007	Autosomal recessive inheritance	8431	NR0B2	OMIM:601665
HP:0000007	Autosomal recessive inheritance	9607	CARTPT	OMIM:601665
HP:0000007	Autosomal recessive inheritance	51738	GHRL	OMIM:601665
HP:0000007	Autosomal recessive inheritance	9672	SDC3	OMIM:601665
HP:0000007	Autosomal recessive inheritance	181	AGRP	OMIM:601665
HP:0000007	Autosomal recessive inheritance	5468	PPARG	OMIM:601665
HP:0000007	Autosomal recessive inheritance	11212	PLPBP	OMIM:617290
HP:0000007	Autosomal recessive inheritance	93650	ACP4	OMIM:617297
HP:0000007	Autosomal recessive inheritance	1286	COL4A4	OMIM:203780
HP:0000007	Autosomal recessive inheritance	405753	DUOXA2	OMIM:274900
HP:0000007	Autosomal recessive inheritance	136647	MPLKIP	OMIM:234050
HP:0000007	Autosomal recessive inheritance	11322	TMC6	OMIM:226400
HP:0000007	Autosomal recessive inheritance	4716	NDUFB10	OMIM:619003
HP:0000007	Autosomal recessive inheritance	8567	MADD	OMIM:619004
HP:0000007	Autosomal recessive inheritance	8567	MADD	OMIM:619005
HP:0000007	Autosomal recessive inheritance	5106	PCK2	OMIM:261650
HP:0000007	Autosomal recessive inheritance	3419	IDH3A	OMIM:619007
HP:0000007	Autosomal recessive inheritance	343637	RSPO4	OMIM:206800
HP:0000007	Autosomal recessive inheritance	54766	BTG4	OMIM:619009
HP:0000007	Autosomal recessive inheritance	7284	TUFM	OMIM:610678
HP:0000007	Autosomal recessive inheritance	26278	SACS	OMIM:270550
HP:0000007	Autosomal recessive inheritance	5805	PTS	OMIM:261640
HP:0000007	Autosomal recessive inheritance	51168	MYO15A	OMIM:600316
HP:0000007	Autosomal recessive inheritance	63899	NSUN3	OMIM:619012
HP:0000007	Autosomal recessive inheritance	2193	FARSA	OMIM:619013
HP:0000007	Autosomal recessive inheritance	10491	CRTAP	OMIM:610682
HP:0000007	Autosomal recessive inheritance	203190	LGI3	OMIM:620007
HP:0000007	Autosomal recessive inheritance	5557	PRIM1	OMIM:620005
HP:0000007	Autosomal recessive inheritance	1073	CFL2	OMIM:610687
HP:0000007	Autosomal recessive inheritance	84081	NSRP1	OMIM:620001
HP:0000007	Autosomal recessive inheritance	253827	MSRB3	OMIM:613718
HP:0000007	Autosomal recessive inheritance	219844	HYLS1	OMIM:236680
HP:0000007	Autosomal recessive inheritance	51082	POLR1D	OMIM:613717
HP:0000007	Autosomal recessive inheritance	4644	MYO5A	OMIM:214450
HP:0000007	Autosomal recessive inheritance	64432	MRPS25	OMIM:619025
HP:0000007	Autosomal recessive inheritance	84842	HPDL	OMIM:619026
HP:0000007	Autosomal recessive inheritance	84842	HPDL	OMIM:619027
HP:0000007	Autosomal recessive inheritance	5860	QDPR	OMIM:261630
HP:0000007	Autosomal recessive inheritance	84274	COQ5	OMIM:619028
HP:0000007	Autosomal recessive inheritance	25793	FBXO7	OMIM:260300
HP:0000007	Autosomal recessive inheritance	125170	MIEF2	OMIM:619024
HP:0000007	Autosomal recessive inheritance	23236	PLCB1	OMIM:613722
HP:0000007	Autosomal recessive inheritance	29969	MDFIC	OMIM:620014
HP:0000007	Autosomal recessive inheritance	6342	SCP2	OMIM:613724
HP:0000007	Autosomal recessive inheritance	3082	HGF	OMIM:608265
HP:0000007	Autosomal recessive inheritance	55129	ANO10	OMIM:613728
HP:0000007	Autosomal recessive inheritance	65055	REEP1	OMIM:620011
HP:0000007	Autosomal recessive inheritance	50964	SOST	OMIM:269500
HP:0000007	Autosomal recessive inheritance	5784	PTPN14	OMIM:613611
HP:0000007	Autosomal recessive inheritance	57539	WDR35	OMIM:613610
HP:0000007	Autosomal recessive inheritance	57539	WDR35	OMIM:614091
HP:0000007	Autosomal recessive inheritance	283310	OTOGL	OMIM:614944
HP:0000007	Autosomal recessive inheritance	10466	COG5	OMIM:613612
HP:0000007	Autosomal recessive inheritance	130557	ZNF513	OMIM:613617
HP:0000007	Autosomal recessive inheritance	340990	OTOG	OMIM:614945
HP:0000007	Autosomal recessive inheritance	112817	HOGA1	OMIM:613616
HP:0000007	Autosomal recessive inheritance	2542	SLC37A4	OMIM:232220
HP:0000007	Autosomal recessive inheritance	2542	SLC37A4	OMIM:232240
HP:0000007	Autosomal recessive inheritance	146183	OTOA	OMIM:607039
HP:0000007	Autosomal recessive inheritance	768206	PRCD	OMIM:610599
HP:0000007	Autosomal recessive inheritance	90411	MCFD2	OMIM:613625
HP:0000007	Autosomal recessive inheritance	79048	SECISBP2	OMIM:609698
HP:0000007	Autosomal recessive inheritance	6439	SFTPB	OMIM:265120
HP:0000007	Autosomal recessive inheritance	5119	CHMP1A	OMIM:614961
HP:0000007	Autosomal recessive inheritance	3952	LEP	OMIM:614962
HP:0000007	Autosomal recessive inheritance	966	CD59	OMIM:612300
HP:0000007	Autosomal recessive inheritance	2538	G6PC1	OMIM:232200
HP:0000007	Autosomal recessive inheritance	8792	TNFRSF11A	OMIM:612301
HP:0000007	Autosomal recessive inheritance	3953	LEPR	OMIM:614963
HP:0000007	Autosomal recessive inheritance	5624	PROC	OMIM:612304
HP:0000007	Autosomal recessive inheritance	114034	TOE1	OMIM:614969
HP:0000007	Autosomal recessive inheritance	79583	TMEM231	OMIM:614970
HP:0000007	Autosomal recessive inheritance	79583	TMEM231	OMIM:615397
HP:0000007	Autosomal recessive inheritance	1954	MEGF8	OMIM:614976
HP:0000007	Autosomal recessive inheritance	340665	CYP26C1	OMIM:614974
HP:0000007	Autosomal recessive inheritance	51293	CD320	OMIM:613646
HP:0000007	Autosomal recessive inheritance	3425	IDUA	OMIM:607014
HP:0000007	Autosomal recessive inheritance	3425	IDUA	OMIM:607016
HP:0000007	Autosomal recessive inheritance	3425	IDUA	OMIM:607015
HP:0000007	Autosomal recessive inheritance	9907	AP5Z1	OMIM:613647
HP:0000007	Autosomal recessive inheritance	79152	FA2H	OMIM:612319
HP:0000007	Autosomal recessive inheritance	5002	SLC22A18	OMIM:268210
HP:0000007	Autosomal recessive inheritance	593	BCKDHA	OMIM:248600
HP:0000007	Autosomal recessive inheritance	8456	FOXN1	OMIM:601705
HP:0000007	Autosomal recessive inheritance	712	C1QA	OMIM:613652
HP:0000007	Autosomal recessive inheritance	10056	FARSB	OMIM:613658
HP:0000007	Autosomal recessive inheritance	54499	TMCO1	OMIM:213980
HP:0000007	Autosomal recessive inheritance	23175	LPIN1	OMIM:268200
HP:0000007	Autosomal recessive inheritance	92211	CDHR1	OMIM:613660
HP:0000007	Autosomal recessive inheritance	440138	ALG11	OMIM:613661
HP:0000007	Autosomal recessive inheritance	9440	MED17	OMIM:613668
HP:0000007	Autosomal recessive inheritance	286676	ILDR1	OMIM:609646
HP:0000007	Autosomal recessive inheritance	2706	GJB2	OMIM:220290
HP:0000007	Autosomal recessive inheritance	2707	GJB3	OMIM:220290
HP:0000007	Autosomal recessive inheritance	2707	GJB3	OMIM:133200
HP:0000007	Autosomal recessive inheritance	55084	SOBP	OMIM:613671
HP:0000007	Autosomal recessive inheritance	55149	MTPAP	OMIM:613672
HP:0000007	Autosomal recessive inheritance	440193	CCDC88C	OMIM:236600
HP:0000007	Autosomal recessive inheritance	2147	F2	OMIM:613679
HP:0000007	Autosomal recessive inheritance	3753	KCNE1	OMIM:612347
HP:0000007	Autosomal recessive inheritance	445	ASS1	OMIM:215700
HP:0000007	Autosomal recessive inheritance	4942	OAT	OMIM:258870
HP:0000007	Autosomal recessive inheritance	4233	MET	OMIM:616705
HP:0000007	Autosomal recessive inheritance	22856	CHSY1	OMIM:605282
HP:0000007	Autosomal recessive inheritance	79228	THOC6	OMIM:613680
HP:0000007	Autosomal recessive inheritance	91252	SLC39A13	OMIM:612350
HP:0000007	Autosomal recessive inheritance	5962	RDX	OMIM:611022
HP:0000007	Autosomal recessive inheritance	84667	HES7	OMIM:613686
HP:0000007	Autosomal recessive inheritance	57410	SCYL1	OMIM:616719
HP:0000007	Autosomal recessive inheritance	8216	LZTR1	OMIM:605275
HP:0000007	Autosomal recessive inheritance	9663	LPIN2	OMIM:609628
HP:0000007	Autosomal recessive inheritance	64116	SLC39A8	OMIM:616721
HP:0000007	Autosomal recessive inheritance	1305	COL13A1	OMIM:616720
HP:0000007	Autosomal recessive inheritance	2622	GAS8	OMIM:616726
HP:0000007	Autosomal recessive inheritance	30062	RAX	OMIM:611038
HP:0000007	Autosomal recessive inheritance	6948	TCN2	OMIM:275350
HP:0000007	Autosomal recessive inheritance	89970	RSPRY1	OMIM:616723
HP:0000007	Autosomal recessive inheritance	8795	TNFRSF10B	OMIM:275355
HP:0000007	Autosomal recessive inheritance	3621	ING1	OMIM:275355
HP:0000007	Autosomal recessive inheritance	3981	LIG4	OMIM:606593
HP:0000007	Autosomal recessive inheritance	669	BPGM	OMIM:222800
HP:0000007	Autosomal recessive inheritance	57379	AICDA	OMIM:605258
HP:0000007	Autosomal recessive inheritance	83552	MFRP	OMIM:611040
HP:0000007	Autosomal recessive inheritance	83552	MFRP	OMIM:609549
HP:0000007	Autosomal recessive inheritance	11151	CORO1A	OMIM:615401
HP:0000007	Autosomal recessive inheritance	440275	EIF2AK4	OMIM:234810
HP:0000007	Autosomal recessive inheritance	84816	RTN4IP1	OMIM:616732
HP:0000007	Autosomal recessive inheritance	6900	CNTN2	OMIM:615400
HP:0000007	Autosomal recessive inheritance	3176	HNMT	OMIM:616739
HP:0000007	Autosomal recessive inheritance	2729	GCLC	OMIM:230450
HP:0000007	Autosomal recessive inheritance	7037	TFRC	OMIM:616740
HP:0000007	Autosomal recessive inheritance	2657	GDF1	OMIM:208530
HP:0000007	Autosomal recessive inheritance	80746	TSEN2	OMIM:612389
HP:0000007	Autosomal recessive inheritance	1911	PHC1	OMIM:615414
HP:0000007	Autosomal recessive inheritance	51151	SLC45A2	OMIM:606574
HP:0000007	Autosomal recessive inheritance	291	SLC25A4	OMIM:615418
HP:0000007	Autosomal recessive inheritance	118856	MMP21	OMIM:616749
HP:0000007	Autosomal recessive inheritance	259232	NALCN	OMIM:615419
HP:0000007	Autosomal recessive inheritance	79042	TSEN34	OMIM:612390
HP:0000007	Autosomal recessive inheritance	8985	PLOD3	OMIM:612394
HP:0000007	Autosomal recessive inheritance	57449	PLEKHG5	OMIM:611067
HP:0000007	Autosomal recessive inheritance	57449	PLEKHG5	OMIM:615376
HP:0000007	Autosomal recessive inheritance	57531	HACE1	OMIM:616756
HP:0000007	Autosomal recessive inheritance	84173	ELMOD3	OMIM:615429
HP:0000007	Autosomal recessive inheritance	10568	SLC34A2	OMIM:265100
HP:0000007	Autosomal recessive inheritance	1589	CYP21A2	OMIM:201910
HP:0000007	Autosomal recessive inheritance	4043	LRPAP1	OMIM:615431
HP:0000007	Autosomal recessive inheritance	147183	KRT25	OMIM:616760
HP:0000007	Autosomal recessive inheritance	5732	PTGER2	OMIM:208550
HP:0000007	Autosomal recessive inheritance	23568	ARL2BP	OMIM:615434
HP:0000007	Autosomal recessive inheritance	64857	PLEKHG2	OMIM:616763
HP:0000007	Autosomal recessive inheritance	3514	IGKC	OMIM:614102
HP:0000007	Autosomal recessive inheritance	51520	LARS1	OMIM:615438
HP:0000007	Autosomal recessive inheritance	4329	ALDH6A1	OMIM:614105
HP:0000007	Autosomal recessive inheritance	80781	COL18A1	OMIM:267750
HP:0000007	Autosomal recessive inheritance	10345	TRDN	OMIM:615441
HP:0000007	Autosomal recessive inheritance	5162	PDHB	OMIM:614111
HP:0000007	Autosomal recessive inheritance	60528	ELAC2	OMIM:615440
HP:0000007	Autosomal recessive inheritance	10293	TRAIP	OMIM:616777
HP:0000007	Autosomal recessive inheritance	9702	CEP57	OMIM:614114
HP:0000007	Autosomal recessive inheritance	92335	STRADA	OMIM:611087
HP:0000007	Autosomal recessive inheritance	84660	CCDC62	OMIM:619803
HP:0000007	Autosomal recessive inheritance	10319	LAMC3	OMIM:614115
HP:0000007	Autosomal recessive inheritance	151254	C2CD6	OMIM:619805
HP:0000007	Autosomal recessive inheritance	51364	ZMYND10	OMIM:615444
HP:0000007	Autosomal recessive inheritance	5294	PIK3CG	OMIM:619802
HP:0000007	Autosomal recessive inheritance	9897	WASHC5	OMIM:220210
HP:0000007	Autosomal recessive inheritance	347688	TUBB8	OMIM:616780
HP:0000007	Autosomal recessive inheritance	54888	NSUN2	OMIM:611091
HP:0000007	Autosomal recessive inheritance	2898	GRIK2	OMIM:611092
HP:0000007	Autosomal recessive inheritance	7991	TUSC3	OMIM:611093
HP:0000007	Autosomal recessive inheritance	23247	KATNIP	OMIM:616784
HP:0000007	Autosomal recessive inheritance	1537	CYC1	OMIM:615453
HP:0000007	Autosomal recessive inheritance	55130	ODAD2	OMIM:615451
HP:0000007	Autosomal recessive inheritance	3655	ITGA6	OMIM:619817
HP:0000007	Autosomal recessive inheritance	8192	CLPP	OMIM:614129
HP:0000007	Autosomal recessive inheritance	170692	ADAMTS18	OMIM:615458
HP:0000007	Autosomal recessive inheritance	9939	RBM8A	OMIM:274000
HP:0000007	Autosomal recessive inheritance	115286	SLC25A26	OMIM:616794
HP:0000007	Autosomal recessive inheritance	4643	MYO1E	OMIM:614131
HP:0000007	Autosomal recessive inheritance	6892	TAPBP	OMIM:620814
HP:0000007	Autosomal recessive inheritance	10892	MALT1	OMIM:615468
HP:0000007	Autosomal recessive inheritance	199720	GGN	OMIM:619826
HP:0000007	Autosomal recessive inheritance	8625	RFXANK	OMIM:620815
HP:0000007	Autosomal recessive inheritance	1297	COL9A1	OMIM:614134
HP:0000007	Autosomal recessive inheritance	55367	PIDD1	OMIM:619827
HP:0000007	Autosomal recessive inheritance	6891	TAP2	OMIM:620813
HP:0000007	Autosomal recessive inheritance	5161	PDHA2	OMIM:619828
HP:0000007	Autosomal recessive inheritance	6929	TCF3	OMIM:619824
HP:0000007	Autosomal recessive inheritance	23141	ANKLE2	OMIM:616681
HP:0000007	Autosomal recessive inheritance	4099	MAG	OMIM:616680
HP:0000007	Autosomal recessive inheritance	29925	GMPPB	OMIM:615350
HP:0000007	Autosomal recessive inheritance	29925	GMPPB	OMIM:615351
HP:0000007	Autosomal recessive inheritance	29925	GMPPB	OMIM:615352
HP:0000007	Autosomal recessive inheritance	6834	SURF1	OMIM:616684
HP:0000007	Autosomal recessive inheritance	6834	SURF1	OMIM:220110
HP:0000007	Autosomal recessive inheritance	5723	PSPH	OMIM:614023
HP:0000007	Autosomal recessive inheritance	9524	TECR	OMIM:614020
HP:0000007	Autosomal recessive inheritance	2132	EXT2	OMIM:616682
HP:0000007	Autosomal recessive inheritance	253017	TECRL	OMIM:614021
HP:0000007	Autosomal recessive inheritance	3145	HMBS	OMIM:620704
HP:0000007	Autosomal recessive inheritance	3145	HMBS	OMIM:620711
HP:0000007	Autosomal recessive inheritance	51126	NAA20	OMIM:619717
HP:0000007	Autosomal recessive inheritance	3990	LIPC	OMIM:614025
HP:0000007	Autosomal recessive inheritance	60684	TRAPPC11	OMIM:615356
HP:0000007	Autosomal recessive inheritance	9231	DLG5	OMIM:620703
HP:0000007	Autosomal recessive inheritance	10973	ASCC3	OMIM:620700
HP:0000007	Autosomal recessive inheritance	19	ABCA1	OMIM:205400
HP:0000007	Autosomal recessive inheritance	144132	DNHD1	OMIM:619712
HP:0000007	Autosomal recessive inheritance	6898	TAT	OMIM:276600
HP:0000007	Autosomal recessive inheritance	84942	WDR73	OMIM:251300
HP:0000007	Autosomal recessive inheritance	10060	ABCC9	OMIM:619719
HP:0000007	Autosomal recessive inheritance	3891	KRT85	OMIM:602032
HP:0000007	Autosomal recessive inheritance	3973	LHCGR	OMIM:238320
HP:0000007	Autosomal recessive inheritance	392255	GDF6	OMIM:615360
HP:0000007	Autosomal recessive inheritance	6716	SRD5A2	OMIM:264600
HP:0000007	Autosomal recessive inheritance	3162	HMOX1	OMIM:614034
HP:0000007	Autosomal recessive inheritance	8722	CTSF	OMIM:615362
HP:0000007	Autosomal recessive inheritance	5322	PLA2G5	OMIM:228980
HP:0000007	Autosomal recessive inheritance	2099	ESR1	OMIM:615363
HP:0000007	Autosomal recessive inheritance	2175	FANCA	OMIM:227650
HP:0000007	Autosomal recessive inheritance	4056	LTC4S	OMIM:614037
HP:0000007	Autosomal recessive inheritance	1785	DNM2	OMIM:615368
HP:0000007	Autosomal recessive inheritance	81575	APOLD1	OMIM:620715
HP:0000007	Autosomal recessive inheritance	79639	TMEM53	OMIM:619727
HP:0000007	Autosomal recessive inheritance	23562	CLDN14	OMIM:614035
HP:0000007	Autosomal recessive inheritance	84899	TMTC4	OMIM:620714
HP:0000007	Autosomal recessive inheritance	140803	TRPM6	OMIM:602014
HP:0000007	Autosomal recessive inheritance	84572	GNPTG	OMIM:252605
HP:0000007	Autosomal recessive inheritance	196527	ANO6	OMIM:262890
HP:0000007	Autosomal recessive inheritance	9364	RAB28	OMIM:615374
HP:0000007	Autosomal recessive inheritance	83871	RAB34	OMIM:620718
HP:0000007	Autosomal recessive inheritance	9692	PRORP	OMIM:619737
HP:0000007	Autosomal recessive inheritance	4160	MC4R	OMIM:618406
HP:0000007	Autosomal recessive inheritance	1292	COL6A2	OMIM:620727
HP:0000007	Autosomal recessive inheritance	1292	COL6A2	OMIM:255600
HP:0000007	Autosomal recessive inheritance	51319	RSRC1	OMIM:618402
HP:0000007	Autosomal recessive inheritance	7920	ABHD16A	OMIM:619735
HP:0000007	Autosomal recessive inheritance	8560	DEGS1	OMIM:618404
HP:0000007	Autosomal recessive inheritance	4323	MMP14	OMIM:277950
HP:0000007	Autosomal recessive inheritance	203286	ANKS6	OMIM:615382
HP:0000007	Autosomal recessive inheritance	54968	TMEM70	OMIM:614052
HP:0000007	Autosomal recessive inheritance	388551	CEACAM16	OMIM:618410
HP:0000007	Autosomal recessive inheritance	5442	POLRMT	OMIM:619743
HP:0000007	Autosomal recessive inheritance	6712	SPTBN2	OMIM:615386
HP:0000007	Autosomal recessive inheritance	28755	TRAC	OMIM:615387
HP:0000007	Autosomal recessive inheritance	514	ATP5F1E	OMIM:614053
HP:0000007	Autosomal recessive inheritance	269	AMHR2	OMIM:261550
HP:0000007	Autosomal recessive inheritance	268	AMH	OMIM:261550
HP:0000007	Autosomal recessive inheritance	23166	STAB1	OMIM:620729
HP:0000007	Autosomal recessive inheritance	55012	PPP2R3C	OMIM:618419
HP:0000007	Autosomal recessive inheritance	10699	CORIN	OMIM:620734
HP:0000007	Autosomal recessive inheritance	4632	MYL1	OMIM:618414
HP:0000007	Autosomal recessive inheritance	200734	SPRED2	OMIM:619745
HP:0000007	Autosomal recessive inheritance	23268	DNMBP	OMIM:618415
HP:0000007	Autosomal recessive inheritance	55361	PI4K2A	OMIM:620732
HP:0000007	Autosomal recessive inheritance	284439	SLC25A42	OMIM:618416
HP:0000007	Autosomal recessive inheritance	9529	BAG5	OMIM:619747
HP:0000007	Autosomal recessive inheritance	339983	NAT8L	OMIM:614063
HP:0000007	Autosomal recessive inheritance	23262	PPIP5K2	OMIM:618422
HP:0000007	Autosomal recessive inheritance	10717	AP4B1	OMIM:614066
HP:0000007	Autosomal recessive inheritance	51604	PIGT	OMIM:615398
HP:0000007	Autosomal recessive inheritance	11154	AP4S1	OMIM:614067
HP:0000007	Autosomal recessive inheritance	65080	MRPL44	OMIM:615395
HP:0000007	Autosomal recessive inheritance	199223	TTC21A	OMIM:618429
HP:0000007	Autosomal recessive inheritance	9841	ZBTB24	OMIM:614069
HP:0000007	Autosomal recessive inheritance	391356	PTRHD1	OMIM:620747
HP:0000007	Autosomal recessive inheritance	221481	ARMC12	OMIM:620744
HP:0000007	Autosomal recessive inheritance	4808	NHLH2	OMIM:619755
HP:0000007	Autosomal recessive inheritance	2592	GALT	OMIM:230400
HP:0000007	Autosomal recessive inheritance	6810	STX4	OMIM:620745
HP:0000007	Autosomal recessive inheritance	7701	ZNF142	OMIM:618425
HP:0000007	Autosomal recessive inheritance	8021	NUP214	OMIM:618426
HP:0000007	Autosomal recessive inheritance	1180	CLCN1	OMIM:255700
HP:0000007	Autosomal recessive inheritance	285362	SUMF1	OMIM:272200
HP:0000007	Autosomal recessive inheritance	89781	HPS4	OMIM:614073
HP:0000007	Autosomal recessive inheritance	150365	MEI1	OMIM:618431
HP:0000007	Autosomal recessive inheritance	11234	HPS5	OMIM:614074
HP:0000007	Autosomal recessive inheritance	79703	TOP6BL	OMIM:618432
HP:0000007	Autosomal recessive inheritance	84071	ARMC2	OMIM:618433
HP:0000007	Autosomal recessive inheritance	84343	HPS3	OMIM:614072
HP:0000007	Autosomal recessive inheritance	388552	BLOC1S3	OMIM:614077
HP:0000007	Autosomal recessive inheritance	54928	BPNT2	OMIM:614078
HP:0000007	Autosomal recessive inheritance	51098	IFT52	OMIM:617102
HP:0000007	Autosomal recessive inheritance	79803	HPS6	OMIM:614075
HP:0000007	Autosomal recessive inheritance	84062	DTNBP1	OMIM:614076
HP:0000007	Autosomal recessive inheritance	4437	MSH3	OMIM:617100
HP:0000007	Autosomal recessive inheritance	9158	FIBP	OMIM:617107
HP:0000007	Autosomal recessive inheritance	25973	PARS2	OMIM:618437
HP:0000007	Autosomal recessive inheritance	11261	CHP1	OMIM:618438
HP:0000007	Autosomal recessive inheritance	540	ATP7B	OMIM:277900
HP:0000007	Autosomal recessive inheritance	2035	EPB41	OMIM:611804
HP:0000007	Autosomal recessive inheritance	7439	BEST1	OMIM:611809
HP:0000007	Autosomal recessive inheritance	2651	GCNT2	OMIM:116700
HP:0000007	Autosomal recessive inheritance	23556	PIGN	OMIM:614080
HP:0000007	Autosomal recessive inheritance	64135	IFIH1	OMIM:619773
HP:0000007	Autosomal recessive inheritance	3978	LIG1	OMIM:619774
HP:0000007	Autosomal recessive inheritance	4123	MAN2C1	OMIM:619775
HP:0000007	Autosomal recessive inheritance	55120	FANCL	OMIM:614083
HP:0000007	Autosomal recessive inheritance	339855	KY	OMIM:617114
HP:0000007	Autosomal recessive inheritance	5286	PIK3C2A	OMIM:618440
HP:0000007	Autosomal recessive inheritance	5818	NECTIN1	OMIM:225060
HP:0000007	Autosomal recessive inheritance	5271	SERPINB8	OMIM:617115
HP:0000007	Autosomal recessive inheritance	85459	CEP295	OMIM:620767
HP:0000007	Autosomal recessive inheritance	246176	GAS2L2	OMIM:618449
HP:0000007	Autosomal recessive inheritance	344658	SAMD7	OMIM:620762
HP:0000007	Autosomal recessive inheritance	54361	WNT4	OMIM:611812
HP:0000007	Autosomal recessive inheritance	57192	MCOLN1	OMIM:252650
HP:0000007	Autosomal recessive inheritance	79628	SH3TC2	OMIM:601596
HP:0000007	Autosomal recessive inheritance	81704	DOCK8	OMIM:243700
HP:0000007	Autosomal recessive inheritance	26100	WIPI2	OMIM:618453
HP:0000007	Autosomal recessive inheritance	10750	GRAP	OMIM:618456
HP:0000007	Autosomal recessive inheritance	1308	COL17A1	OMIM:619787
HP:0000007	Autosomal recessive inheritance	79882	ZC3H14	OMIM:617125
HP:0000007	Autosomal recessive inheritance	3980	LIG3	OMIM:619780
HP:0000007	Autosomal recessive inheritance	84695	LOXL3	OMIM:619781
HP:0000007	Autosomal recessive inheritance	847	CAT	OMIM:614097
HP:0000007	Autosomal recessive inheritance	3658	IREB2	OMIM:618451
HP:0000007	Autosomal recessive inheritance	221078	NSUN6	OMIM:620779
HP:0000007	Autosomal recessive inheritance	6878	TAF6	OMIM:617126
HP:0000007	Autosomal recessive inheritance	124976	SPNS2	OMIM:618457
HP:0000007	Autosomal recessive inheritance	826	CAPNS1	OMIM:620777
HP:0000007	Autosomal recessive inheritance	29127	RACGAP1	OMIM:619789
HP:0000007	Autosomal recessive inheritance	27145	FILIP1	OMIM:620775
HP:0000007	Autosomal recessive inheritance	9138	ARHGEF1	OMIM:618459
HP:0000007	Autosomal recessive inheritance	2582	GALE	OMIM:620776
HP:0000007	Autosomal recessive inheritance	2582	GALE	OMIM:230350
HP:0000007	Autosomal recessive inheritance	78987	CRELD1	OMIM:620771
HP:0000007	Autosomal recessive inheritance	9900	SV2A	OMIM:620772
HP:0000007	Autosomal recessive inheritance	79876	UBA5	OMIM:617132
HP:0000007	Autosomal recessive inheritance	79876	UBA5	OMIM:617133
HP:0000007	Autosomal recessive inheritance	79879	CCDC134	OMIM:619795
HP:0000007	Autosomal recessive inheritance	8288	EPX	OMIM:261500
HP:0000007	Autosomal recessive inheritance	54892	NCAPG2	OMIM:618460
HP:0000007	Autosomal recessive inheritance	2048	EPHB2	OMIM:618462
HP:0000007	Autosomal recessive inheritance	335	APOA1	OMIM:618463
HP:0000007	Autosomal recessive inheritance	51412	ACTL6B	OMIM:618468
HP:0000007	Autosomal recessive inheritance	11055	ZPBP	OMIM:619799
HP:0000007	Autosomal recessive inheritance	4621	MYH3	OMIM:618469
HP:0000007	Autosomal recessive inheritance	79903	NAA60	OMIM:620786
HP:0000007	Autosomal recessive inheritance	3875	KRT18	OMIM:215600
HP:0000007	Autosomal recessive inheritance	4143	MAT1A	OMIM:250850
HP:0000007	Autosomal recessive inheritance	84320	ACBD6	OMIM:620785
HP:0000007	Autosomal recessive inheritance	10102	TSFM	OMIM:610505
HP:0000007	Autosomal recessive inheritance	2202	EFEMP1	OMIM:620780
HP:0000007	Autosomal recessive inheritance	60482	SLC5A7	OMIM:617143
HP:0000007	Autosomal recessive inheritance	1436	CSF1R	OMIM:618476
HP:0000007	Autosomal recessive inheritance	9154	SLC28A1	OMIM:618477
HP:0000007	Autosomal recessive inheritance	63895	PIEZO2	OMIM:617146
HP:0000007	Autosomal recessive inheritance	8878	SQSTM1	OMIM:617145
HP:0000007	Autosomal recessive inheritance	4081	MAB21L1	OMIM:618479
HP:0000007	Autosomal recessive inheritance	81858	SHARPIN	OMIM:620795
HP:0000007	Autosomal recessive inheritance	10073	SNUPN	OMIM:620793
HP:0000007	Autosomal recessive inheritance	93035	PKHD1L1	OMIM:620794
HP:0000007	Autosomal recessive inheritance	161725	OTUD7A	OMIM:620790
HP:0000007	Autosomal recessive inheritance	1725	DHPS	OMIM:618480
HP:0000007	Autosomal recessive inheritance	124842	TMEM132E	OMIM:618481
HP:0000007	Autosomal recessive inheritance	2159	F10	OMIM:227600
HP:0000007	Autosomal recessive inheritance	4125	MAN2B1	OMIM:248500
HP:0000007	Autosomal recessive inheritance	54496	PRMT7	OMIM:617157
HP:0000007	Autosomal recessive inheritance	7019	TFAM	OMIM:617156
HP:0000007	Autosomal recessive inheritance	444	ASPH	OMIM:601552
HP:0000007	Autosomal recessive inheritance	3158	HMGCS2	OMIM:605911
HP:0000007	Autosomal recessive inheritance	1781	DYNC1I2	OMIM:618492
HP:0000007	Autosomal recessive inheritance	774	CACNA1B	OMIM:618497
HP:0000007	Autosomal recessive inheritance	285600	KIAA0825	OMIM:618498
HP:0000007	Autosomal recessive inheritance	3977	LIFR	OMIM:601559
HP:0000007	Autosomal recessive inheritance	54681	P4HTM	OMIM:618493
HP:0000007	Autosomal recessive inheritance	4126	MANBA	OMIM:248510
HP:0000007	Autosomal recessive inheritance	3560	IL2RB	OMIM:618495
HP:0000007	Autosomal recessive inheritance	84668	HYCC1	OMIM:610532
HP:0000007	Autosomal recessive inheritance	6690	SPINK1	OMIM:608189
HP:0000007	Autosomal recessive inheritance	650	BMP2	OMIM:235200
HP:0000007	Autosomal recessive inheritance	3077	HFE	OMIM:235200
HP:0000007	Autosomal recessive inheritance	10522	DEAF1	OMIM:617171
HP:0000007	Autosomal recessive inheritance	4882	NPR2	OMIM:602875
HP:0000007	Autosomal recessive inheritance	2998	GYS2	OMIM:240600
HP:0000007	Autosomal recessive inheritance	55213	RCBTB1	OMIM:617175
HP:0000007	Autosomal recessive inheritance	65018	PINK1	OMIM:605909
HP:0000007	Autosomal recessive inheritance	6424	SFRP4	OMIM:265900
HP:0000007	Autosomal recessive inheritance	10681	GNB5	OMIM:617173
HP:0000007	Autosomal recessive inheritance	10681	GNB5	OMIM:617182
HP:0000007	Autosomal recessive inheritance	145173	B3GLCT	OMIM:261540
HP:0000007	Autosomal recessive inheritance	10653	SPINT2	OMIM:270420
HP:0000007	Autosomal recessive inheritance	140732	SUN5	OMIM:617187
HP:0000007	Autosomal recessive inheritance	128240	NAXE	OMIM:617186
HP:0000007	Autosomal recessive inheritance	3198	HOXA1	OMIM:601536
HP:0000007	Autosomal recessive inheritance	51715	RAB23	OMIM:201000
HP:0000007	Autosomal recessive inheritance	79143	MBOAT7	OMIM:617188
HP:0000007	Autosomal recessive inheritance	7137	TNNI3	OMIM:611880
HP:0000007	Autosomal recessive inheritance	197	AHSG	OMIM:203650
HP:0000007	Autosomal recessive inheritance	226	ALDOA	OMIM:611881
HP:0000007	Autosomal recessive inheritance	81622	UNC93B1	OMIM:610551
HP:0000007	Autosomal recessive inheritance	8701	DNAH11	OMIM:611884
HP:0000007	Autosomal recessive inheritance	4604	MYBPC1	OMIM:614915
HP:0000007	Autosomal recessive inheritance	4222	MEOX1	OMIM:214300
HP:0000007	Autosomal recessive inheritance	342035	GLDN	OMIM:617194
HP:0000007	Autosomal recessive inheritance	6904	TBCD	OMIM:617193
HP:0000007	Autosomal recessive inheritance	2177	FANCD2	OMIM:227646
HP:0000007	Autosomal recessive inheritance	5345	SERPINF2	OMIM:262850
HP:0000007	Autosomal recessive inheritance	2176	FANCC	OMIM:227645
HP:0000007	Autosomal recessive inheritance	5236	PGM1	OMIM:614921
HP:0000007	Autosomal recessive inheritance	55005	RMND1	OMIM:614922
HP:0000007	Autosomal recessive inheritance	8799	PEX11B	OMIM:614920
HP:0000007	Autosomal recessive inheritance	3295	HSD17B4	OMIM:261515
HP:0000007	Autosomal recessive inheritance	3295	HSD17B4	OMIM:233400
HP:0000007	Autosomal recessive inheritance	23438	HARS2	OMIM:614926
HP:0000007	Autosomal recessive inheritance	10295	BCKDK	OMIM:614923
HP:0000007	Autosomal recessive inheritance	124454	EARS2	OMIM:614924
HP:0000007	Autosomal recessive inheritance	121391	KRT74	OMIM:614929
HP:0000007	Autosomal recessive inheritance	55074	OXR1	OMIM:213000
HP:0000007	Autosomal recessive inheritance	389434	IYD	OMIM:274800
HP:0000007	Autosomal recessive inheritance	3827	KNG1	OMIM:228960
HP:0000007	Autosomal recessive inheritance	87178	PNPT1	OMIM:614932
HP:0000007	Autosomal recessive inheritance	87178	PNPT1	OMIM:614934
HP:0000007	Autosomal recessive inheritance	3708	ITPR1	OMIM:206700
HP:0000007	Autosomal recessive inheritance	3229	HOXC13	OMIM:614931
HP:0000007	Autosomal recessive inheritance	3480	IGF1R	OMIM:270450
HP:0000007	Autosomal recessive inheritance	23639	DNAAF11	OMIM:614935
HP:0000007	Autosomal recessive inheritance	374407	DNAJB13	OMIM:617091
HP:0000007	Autosomal recessive inheritance	11113	CIT	OMIM:617090
HP:0000007	Autosomal recessive inheritance	10128	LRPPRC	OMIM:220111
HP:0000007	Autosomal recessive inheritance	64327	LMBR1	OMIM:200500
HP:0000007	Autosomal recessive inheritance	3376	IARS1	OMIM:617093
HP:0000007	Autosomal recessive inheritance	83538	ODAD4	OMIM:617092
HP:0000007	Autosomal recessive inheritance	90268	OTULIN	OMIM:617099
HP:0000007	Autosomal recessive inheritance	4574	MT-TS1	OMIM:220110
HP:0000007	Autosomal recessive inheritance	4570	MT-TN	OMIM:220110
HP:0000007	Autosomal recessive inheritance	7172	TPMT	OMIM:610460
HP:0000007	Autosomal recessive inheritance	6519	SLC3A1	OMIM:220100
HP:0000007	Autosomal recessive inheritance	11136	SLC7A9	OMIM:220100
HP:0000007	Autosomal recessive inheritance	8443	GNPAT	OMIM:222765
HP:0000007	Autosomal recessive inheritance	2261	FGFR3	OMIM:610474
HP:0000007	Autosomal recessive inheritance	973	CD79A	OMIM:613501
HP:0000007	Autosomal recessive inheritance	25914	RTTN	OMIM:614833
HP:0000007	Autosomal recessive inheritance	3543	IGLL1	OMIM:613500
HP:0000007	Autosomal recessive inheritance	1824	DSC2	OMIM:610476
HP:0000007	Autosomal recessive inheritance	2911	GRM1	OMIM:614831
HP:0000007	Autosomal recessive inheritance	29760	BLNK	OMIM:613502
HP:0000007	Autosomal recessive inheritance	152816	ODAPH	OMIM:614832
HP:0000007	Autosomal recessive inheritance	93589	CACNA2D4	OMIM:610478
HP:0000007	Autosomal recessive inheritance	84634	KISS1R	OMIM:614837
HP:0000007	Autosomal recessive inheritance	6866	TAC3	OMIM:614839
HP:0000007	Autosomal recessive inheritance	6870	TACR3	OMIM:614840
HP:0000007	Autosomal recessive inheritance	23090	ZNF423	OMIM:614844
HP:0000007	Autosomal recessive inheritance	22897	CEP164	OMIM:614845
HP:0000007	Autosomal recessive inheritance	3814	KISS1	OMIM:614842
HP:0000007	Autosomal recessive inheritance	646960	PRSS56	OMIM:613517
HP:0000007	Autosomal recessive inheritance	8546	AP3B1	OMIM:608233
HP:0000007	Autosomal recessive inheritance	8802	SUCLG1	OMIM:245400
HP:0000007	Autosomal recessive inheritance	1717	DHCR7	OMIM:270400
HP:0000007	Autosomal recessive inheritance	132158	GLYCTK	OMIM:220120
HP:0000007	Autosomal recessive inheritance	51199	NIN	OMIM:614851
HP:0000007	Autosomal recessive inheritance	148022	TICAM1	OMIM:614850
HP:0000007	Autosomal recessive inheritance	649	BMP1	OMIM:614856
HP:0000007	Autosomal recessive inheritance	51021	MRPS16	OMIM:610498
HP:0000007	Autosomal recessive inheritance	221496	LEMD2	OMIM:212500
HP:0000007	Autosomal recessive inheritance	5826	ABCD4	OMIM:614857
HP:0000007	Autosomal recessive inheritance	6911	TBX6	OMIM:122600
HP:0000007	Autosomal recessive inheritance	1727	CYB5R3	OMIM:250800
HP:0000007	Autosomal recessive inheritance	116085	SLC22A12	OMIM:220150
HP:0000007	Autosomal recessive inheritance	197257	LDHD	OMIM:245450
HP:0000007	Autosomal recessive inheritance	5190	PEX6	OMIM:614862
HP:0000007	Autosomal recessive inheritance	5190	PEX6	OMIM:614863
HP:0000007	Autosomal recessive inheritance	5190	PEX6	OMIM:616617
HP:0000007	Autosomal recessive inheritance	7498	XDH	OMIM:278300
HP:0000007	Autosomal recessive inheritance	5828	PEX2	OMIM:614866
HP:0000007	Autosomal recessive inheritance	5828	PEX2	OMIM:614867
HP:0000007	Autosomal recessive inheritance	6789	STK4	OMIM:614868
HP:0000007	Autosomal recessive inheritance	55165	CEP55	OMIM:236500
HP:0000007	Autosomal recessive inheritance	64837	KLC2	OMIM:609541
HP:0000007	Autosomal recessive inheritance	78989	COLEC11	OMIM:265050
HP:0000007	Autosomal recessive inheritance	3208	HPCA	OMIM:224500
HP:0000007	Autosomal recessive inheritance	727	C5	OMIM:609536
HP:0000007	Autosomal recessive inheritance	5192	PEX10	OMIM:614870
HP:0000007	Autosomal recessive inheritance	5192	PEX10	OMIM:614871
HP:0000007	Autosomal recessive inheritance	55670	PEX26	OMIM:614873
HP:0000007	Autosomal recessive inheritance	55670	PEX26	OMIM:614872
HP:0000007	Autosomal recessive inheritance	54919	DNAAF5	OMIM:614874
HP:0000007	Autosomal recessive inheritance	9409	PEX16	OMIM:614877
HP:0000007	Autosomal recessive inheritance	9409	PEX16	OMIM:614876
HP:0000007	Autosomal recessive inheritance	1588	CYP19A1	OMIM:613546
HP:0000007	Autosomal recessive inheritance	7837	PXDN	OMIM:269400
HP:0000007	Autosomal recessive inheritance	9342	SNAP29	OMIM:609528
HP:0000007	Autosomal recessive inheritance	3300	DNAJB2	OMIM:614881
HP:0000007	Autosomal recessive inheritance	5194	PEX13	OMIM:614885
HP:0000007	Autosomal recessive inheritance	5194	PEX13	OMIM:614883
HP:0000007	Autosomal recessive inheritance	50628	GEMIN4	OMIM:617913
HP:0000007	Autosomal recessive inheritance	3460	IFNGR2	OMIM:614889
HP:0000007	Autosomal recessive inheritance	140628	GATA5	OMIM:617912
HP:0000007	Autosomal recessive inheritance	5078	PAX4	OMIM:612227
HP:0000007	Autosomal recessive inheritance	5824	PEX19	OMIM:614886
HP:0000007	Autosomal recessive inheritance	2056	EPO	OMIM:617911
HP:0000007	Autosomal recessive inheritance	5195	PEX14	OMIM:614887
HP:0000007	Autosomal recessive inheritance	1384	CRAT	OMIM:617917
HP:0000007	Autosomal recessive inheritance	85021	REPS1	OMIM:617916
HP:0000007	Autosomal recessive inheritance	4990	SIX6	OMIM:212550
HP:0000007	Autosomal recessive inheritance	80067	DCAF17	OMIM:241080
HP:0000007	Autosomal recessive inheritance	3594	IL12RB1	OMIM:614891
HP:0000007	Autosomal recessive inheritance	51067	YARS2	OMIM:613561
HP:0000007	Autosomal recessive inheritance	3593	IL12B	OMIM:614890
HP:0000007	Autosomal recessive inheritance	10457	GPNMB	OMIM:617920
HP:0000007	Autosomal recessive inheritance	776	CACNA1D	OMIM:614896
HP:0000007	Autosomal recessive inheritance	3329	HSPD1	OMIM:612233
HP:0000007	Autosomal recessive inheritance	27152	INTU	OMIM:617925
HP:0000007	Autosomal recessive inheritance	27152	INTU	OMIM:617926
HP:0000007	Autosomal recessive inheritance	51475	CABP2	OMIM:614899
HP:0000007	Autosomal recessive inheritance	1261	CNGA3	OMIM:216900
HP:0000007	Autosomal recessive inheritance	137492	VPS37A	OMIM:614898
HP:0000007	Autosomal recessive inheritance	10695	CNPY3	OMIM:617929
HP:0000007	Autosomal recessive inheritance	55081	IFT57	OMIM:617927
HP:0000007	Autosomal recessive inheritance	7051	TGM1	OMIM:242300
HP:0000007	Autosomal recessive inheritance	4683	NBN	OMIM:251260
HP:0000007	Autosomal recessive inheritance	81607	NECTIN4	OMIM:613573
HP:0000007	Autosomal recessive inheritance	590	BCHE	OMIM:617936
HP:0000007	Autosomal recessive inheritance	53616	ADAM22	OMIM:617933
HP:0000007	Autosomal recessive inheritance	50939	IMPG2	OMIM:613581
HP:0000007	Autosomal recessive inheritance	79631	EFL1	OMIM:617941
HP:0000007	Autosomal recessive inheritance	51116	MRPS2	OMIM:617950
HP:0000007	Autosomal recessive inheritance	4615	MYD88	OMIM:612260
HP:0000007	Autosomal recessive inheritance	9512	PMPCB	OMIM:617954
HP:0000007	Autosomal recessive inheritance	6097	RORC	OMIM:616622
HP:0000007	Autosomal recessive inheritance	55603	TENT5A	OMIM:617952
HP:0000007	Autosomal recessive inheritance	2058	EPRS1	OMIM:617951
HP:0000007	Autosomal recessive inheritance	1063	CENPF	OMIM:243605
HP:0000007	Autosomal recessive inheritance	26146	TRAF3IP1	OMIM:616629
HP:0000007	Autosomal recessive inheritance	79846	CFAP69	OMIM:617959
HP:0000007	Autosomal recessive inheritance	9056	SLC7A7	OMIM:222700
HP:0000007	Autosomal recessive inheritance	3549	IHH	OMIM:607778
HP:0000007	Autosomal recessive inheritance	1757	SARDH	OMIM:268900
HP:0000007	Autosomal recessive inheritance	80705	TSGA10	OMIM:617961
HP:0000007	Autosomal recessive inheritance	56154	TEX15	OMIM:617960
HP:0000007	Autosomal recessive inheritance	122481	AK7	OMIM:617965
HP:0000007	Autosomal recessive inheritance	1729	DIAPH1	OMIM:616632
HP:0000007	Autosomal recessive inheritance	175	AGA	OMIM:208400
HP:0000007	Autosomal recessive inheritance	5116	PCNT	OMIM:210720
HP:0000007	Autosomal recessive inheritance	27130	INVS	OMIM:602088
HP:0000007	Autosomal recessive inheritance	8820	HESX1	OMIM:182230
HP:0000007	Autosomal recessive inheritance	51128	SAR1B	OMIM:246700
HP:0000007	Autosomal recessive inheritance	2328	FMO3	OMIM:602079
HP:0000007	Autosomal recessive inheritance	401	PHOX2A	OMIM:602078
HP:0000007	Autosomal recessive inheritance	80270	HSD3B7	OMIM:607765
HP:0000007	Autosomal recessive inheritance	6505	SLC1A1	OMIM:222730
HP:0000007	Autosomal recessive inheritance	348938	NIPAL4	OMIM:612281
HP:0000007	Autosomal recessive inheritance	56978	PRDM8	OMIM:616640
HP:0000007	Autosomal recessive inheritance	6006	RHCE	OMIM:617970
HP:0000007	Autosomal recessive inheritance	57468	SLC12A5	OMIM:616645
HP:0000007	Autosomal recessive inheritance	10815	CPLX1	OMIM:617976
HP:0000007	Autosomal recessive inheritance	2588	GALNS	OMIM:253000
HP:0000007	Autosomal recessive inheritance	56270	WDR45B	OMIM:617977
HP:0000007	Autosomal recessive inheritance	79783	SUGCT	OMIM:231690
HP:0000007	Autosomal recessive inheritance	3199	HOXA2	OMIM:612290
HP:0000007	Autosomal recessive inheritance	200894	ARL13B	OMIM:612291
HP:0000007	Autosomal recessive inheritance	9918	NCAPD2	OMIM:617983
HP:0000007	Autosomal recessive inheritance	23397	NCAPH	OMIM:617985
HP:0000007	Autosomal recessive inheritance	23310	NCAPD3	OMIM:617984
HP:0000007	Autosomal recessive inheritance	6509	SLC1A4	OMIM:616657
HP:0000007	Autosomal recessive inheritance	54676	GTPBP2	OMIM:617988
HP:0000007	Autosomal recessive inheritance	100506658	OCLN	OMIM:251290
HP:0000007	Autosomal recessive inheritance	7253	TSHR	OMIM:275200
HP:0000007	Autosomal recessive inheritance	3284	HSD3B2	OMIM:201810
HP:0000007	Autosomal recessive inheritance	9365	KL	OMIM:617994
HP:0000007	Autosomal recessive inheritance	8074	FGF23	OMIM:617993
HP:0000007	Autosomal recessive inheritance	494551	WEE2	OMIM:617996
HP:0000007	Autosomal recessive inheritance	8815	BANF1	OMIM:614008
HP:0000007	Autosomal recessive inheritance	3455	IFNAR2	OMIM:616669
HP:0000007	Autosomal recessive inheritance	51294	PCDH12	OMIM:251280
HP:0000007	Autosomal recessive inheritance	1807	DPYS	OMIM:222748
HP:0000007	Autosomal recessive inheritance	2639	GCDH	OMIM:231670
HP:0000007	Autosomal recessive inheritance	10516	FBLN5	OMIM:219100
HP:0000007	Autosomal recessive inheritance	7148	TNXB	OMIM:606408
HP:0000007	Autosomal recessive inheritance	4747	NEFL	OMIM:607734
HP:0000007	Autosomal recessive inheritance	79587	CARS2	OMIM:616672
HP:0000007	Autosomal recessive inheritance	85378	TUBGCP6	OMIM:251270
HP:0000007	Autosomal recessive inheritance	96459	FNIP1	OMIM:619705
HP:0000007	Autosomal recessive inheritance	55753	OGDHL	OMIM:619701
HP:0000007	Autosomal recessive inheritance	131377	KLHL40	OMIM:615348
HP:0000007	Autosomal recessive inheritance	83544	DNAL1	OMIM:614017
HP:0000007	Autosomal recessive inheritance	100128908	CIROP	OMIM:619702
HP:0000007	Autosomal recessive inheritance	2110	ETFDH	OMIM:231680
HP:0000007	Autosomal recessive inheritance	2108	ETFA	OMIM:231680
HP:0000007	Autosomal recessive inheritance	2109	ETFB	OMIM:231680
HP:0000007	Autosomal recessive inheritance	8328	GFI1B	OMIM:187900
HP:0001417	X-linked inheritance	1121	CHM	OMIM:303100
HP:0001417	X-linked inheritance	6853	SYN1	OMIM:300115
HP:0001417	X-linked inheritance	9210	BMP15	OMIM:300510
HP:0001417	X-linked inheritance	331	XIAP	OMIM:300635
HP:0001417	X-linked inheritance	23418	CRB1	OMIM:172870
HP:0001417	X-linked inheritance	2316	FLNA	OMIM:314400
HP:0001417	X-linked inheritance	2316	FLNA	OMIM:300321
HP:0001417	X-linked inheritance	778	CACNA1F	OMIM:300071
HP:0001417	X-linked inheritance	778	CACNA1F	OMIM:300600
HP:0001417	X-linked inheritance	6658	SOX3	OMIM:300123
HP:0001417	X-linked inheritance	6658	SOX3	OMIM:312000
HP:0001417	X-linked inheritance	55869	HDAC8	OMIM:300882
HP:0001417	X-linked inheritance	57526	PCDH19	OMIM:300088
HP:0001417	X-linked inheritance	170302	ARX	OMIM:300004
HP:0001417	X-linked inheritance	170302	ARX	OMIM:300215
HP:0001417	X-linked inheritance	79868	ALG13	OMIM:300884
HP:0001417	X-linked inheritance	7552	ZNF711	OMIM:300803
HP:0001417	X-linked inheritance	2332	FMR1	OMIM:311360
HP:0001417	X-linked inheritance	3149	HMGB3	OMIM:300915
HP:0001417	X-linked inheritance	1287	COL4A5	OMIM:301050
HP:0001417	X-linked inheritance	1741	DLG3	OMIM:300850
HP:0001417	X-linked inheritance	54539	NDUFB11	OMIM:301021
HP:0001417	X-linked inheritance	10735	STAG2	OMIM:301022
HP:0001417	X-linked inheritance	54885	TBC1D8B	OMIM:301028
HP:0001417	X-linked inheritance	2664	GDI1	OMIM:300849
HP:0001417	X-linked inheritance	50945	TBX22	OMIM:302905
HP:0001417	X-linked inheritance	50945	TBX22	OMIM:303400
HP:0001417	X-linked inheritance	6102	RP2	OMIM:312600
HP:0001417	X-linked inheritance	90167	FRMD7	OMIM:310700
HP:0001417	X-linked inheritance	6473	SHOX	OMIM:300582
HP:0001417	X-linked inheritance	1641	DCX	OMIM:300067
HP:0001417	X-linked inheritance	6907	TBL1X	OMIM:301033
HP:0001417	X-linked inheritance	27316	RBMX	OMIM:309555
HP:0001417	X-linked inheritance	4935	GPR143	OMIM:300500
HP:0001417	X-linked inheritance	633	BGN	OMIM:300989
HP:0001417	X-linked inheritance	4007	PRICKLE3	OMIM:308905
HP:0001417	X-linked inheritance	10149	ADGRG2	OMIM:300985
HP:0001417	X-linked inheritance	6103	RPGR	OMIM:304020
HP:0001417	X-linked inheritance	6103	RPGR	OMIM:300029
HP:0001417	X-linked inheritance	51114	ZDHHC9	OMIM:300799
HP:0001417	X-linked inheritance	54880	BCOR	OMIM:309800
HP:0001417	X-linked inheritance	8260	NAA10	OMIM:309800
HP:0001417	X-linked inheritance	22866	CNKSR2	OMIM:301008
HP:0001417	X-linked inheritance	8517	IKBKG	OMIM:301081
HP:0001417	X-linked inheritance	63932	STEEP1	OMIM:301013
HP:0001417	X-linked inheritance	26576	SRPK3	OMIM:301134
HP:0001417	X-linked inheritance	407	ARR3	OMIM:301010
HP:0001417	X-linked inheritance	6756	SSX1	OMIM:301099
HP:0001417	X-linked inheritance	7504	XK	OMIM:300842
HP:0001417	X-linked inheritance	6197	RPS6KA3	OMIM:300844
HP:0001417	X-linked inheritance	2273	FHL1	OMIM:300718
HP:0001417	X-linked inheritance	2556	GABRA3	OMIM:301091
HP:0001417	X-linked inheritance	83844	USP26	OMIM:301101
HP:0001417	X-linked inheritance	4204	MECP2	OMIM:300496
HP:0001417	X-linked inheritance	7030	TFE3	OMIM:301066
HP:0001417	X-linked inheritance	57502	NLGN4X	OMIM:300495
HP:0001417	X-linked inheritance	1438	CSF2RA	OMIM:300770
HP:0001417	X-linked inheritance	190	NR0B1	OMIM:300018
HP:0001417	X-linked inheritance	54967	CT55	OMIM:301106
HP:0001417	X-linked inheritance	84631	SLITRK2	OMIM:301107
HP:0001417	X-linked inheritance	4810	NHS	OMIM:302200
HP:0001417	X-linked inheritance	51311	TLR8	OMIM:301078
HP:0001417	X-linked inheritance	9130	FAM50A	OMIM:300261
HP:0001417	X-linked inheritance	139886	SPIN4	OMIM:301114
HP:0001417	X-linked inheritance	2742	GLRA2	OMIM:301076
HP:0001417	X-linked inheritance	1756	DMD	OMIM:302045
HP:0001417	X-linked inheritance	93953	GCNA	OMIM:301077
HP:0001417	X-linked inheritance	1538	CYLC1	OMIM:301119
HP:0001417	X-linked inheritance	54413	NLGN3	OMIM:300425
HP:0001417	X-linked inheritance	83550	GPR101	OMIM:300943
HP:0001417	X-linked inheritance	8573	CASK	OMIM:300422
HP:0001417	X-linked inheritance	7543	ZFX	OMIM:301118
HP:0001417	X-linked inheritance	10075	HUWE1	OMIM:309590
HP:0001417	X-linked inheritance	3476	IGBP1	OMIM:300472
HP:0001417	X-linked inheritance	8243	SMC1A	OMIM:300590
HP:0001417	X-linked inheritance	8450	CUL4B	OMIM:300354
HP:0001417	X-linked inheritance	10134	BCAP31	OMIM:300475
HP:0001417	X-linked inheritance	9131	AIFM1	OMIM:300232
HP:0001417	X-linked inheritance	9131	AIFM1	OMIM:310490
HP:0001417	X-linked inheritance	9131	AIFM1	OMIM:300614
HP:0001417	X-linked inheritance	9131	AIFM1	OMIM:300816
HP:0001417	X-linked inheritance	6535	SLC6A8	OMIM:300352
HP:0001417	X-linked inheritance	10159	ATP6AP2	OMIM:300911
HP:0001417	X-linked inheritance	10159	ATP6AP2	OMIM:300423
HP:0001417	X-linked inheritance	10159	ATP6AP2	OMIM:301045
HP:0001417	X-linked inheritance	5009	OTC	OMIM:311250
HP:0001417	X-linked inheritance	4693	NDP	OMIM:310600
HP:0001417	X-linked inheritance	4693	NDP	OMIM:305390
HP:0001417	X-linked inheritance	1736	DKC1	OMIM:305000
HP:0001417	X-linked inheritance	538	ATP7A	OMIM:304150
HP:0001417	X-linked inheritance	538	ATP7A	OMIM:300489
HP:0001417	X-linked inheritance	538	ATP7A	OMIM:309400
HP:0001417	X-linked inheritance	1184	CLCN5	OMIM:308990
HP:0001417	X-linked inheritance	1184	CLCN5	OMIM:300009
HP:0001417	X-linked inheritance	1184	CLCN5	OMIM:300554
HP:0001417	X-linked inheritance	1184	CLCN5	OMIM:310468
HP:0001417	X-linked inheritance	2158	F9	OMIM:306900
HP:0001417	X-linked inheritance	2158	F9	OMIM:300807
HP:0001417	X-linked inheritance	4983	OPHN1	OMIM:300486
HP:0001417	X-linked inheritance	10479	SLC9A6	OMIM:300243
HP:0001417	X-linked inheritance	4281	MID1	OMIM:300000
HP:0001417	X-linked inheritance	65267	WNK3	OMIM:309610
HP:0001417	X-linked inheritance	24137	KIF4A	OMIM:300923
HP:0001417	X-linked inheritance	2623	GATA1	OMIM:300367
HP:0001417	X-linked inheritance	2623	GATA1	OMIM:314050
HP:0001417	X-linked inheritance	2623	GATA1	OMIM:301083
HP:0001417	X-linked inheritance	2623	GATA1	OMIM:300835
HP:0001417	X-linked inheritance	6855	SYP	OMIM:300802
HP:0001417	X-linked inheritance	51360	MBTPS2	OMIM:300918
HP:0001417	X-linked inheritance	51360	MBTPS2	OMIM:308800
HP:0001417	X-linked inheritance	51360	MBTPS2	OMIM:301014
HP:0001417	X-linked inheritance	51360	MBTPS2	OMIM:308205
HP:0001417	X-linked inheritance	8239	USP9X	OMIM:300919
HP:0001417	X-linked inheritance	1288	COL4A6	OMIM:300914
HP:0001417	X-linked inheritance	7102	TSPAN7	OMIM:300210
HP:0001417	X-linked inheritance	1896	EDA	OMIM:305100
HP:0001417	X-linked inheritance	2892	GRIA3	OMIM:300699
HP:0001417	X-linked inheritance	22	ABCB7	OMIM:301310
HP:0001417	X-linked inheritance	1678	TIMM8A	OMIM:304700
HP:0001417	X-linked inheritance	215	ABCD1	OMIM:300100
HP:0001417	X-linked inheritance	6399	TRAPPC2	OMIM:313400
HP:0001417	X-linked inheritance	8241	RBM10	OMIM:311900
HP:0001417	X-linked inheritance	30011	SH3KBP1	OMIM:300310
HP:0001417	X-linked inheritance	4952	OCRL	OMIM:300555
HP:0001417	X-linked inheritance	4952	OCRL	OMIM:309000
HP:0001417	X-linked inheritance	65109	UPF3B	OMIM:300676
HP:0001417	X-linked inheritance	5956	OPN1LW	OMIM:303700
HP:0001417	X-linked inheritance	5956	OPN1LW	OMIM:303900
HP:0001417	X-linked inheritance	2652	OPN1MW	OMIM:303700
HP:0001417	X-linked inheritance	2652	OPN1MW	OMIM:303800
HP:0001417	X-linked inheritance	5255	PHKA1	OMIM:300559
HP:0001417	X-linked inheritance	5063	PAK3	OMIM:300558
HP:0001417	X-linked inheritance	367	AR	OMIM:312300
HP:0001417	X-linked inheritance	367	AR	OMIM:300633
HP:0001417	X-linked inheritance	367	AR	OMIM:300068
HP:0001417	X-linked inheritance	367	AR	OMIM:313200
HP:0001417	X-linked inheritance	54440	SASH3	OMIM:301082
HP:0001417	X-linked inheritance	56159	TEX11	OMIM:309120
HP:0001417	X-linked inheritance	492	ATP2B3	OMIM:302500
HP:0001417	X-linked inheritance	3251	HPRT1	OMIM:300322
HP:0001417	X-linked inheritance	3251	HPRT1	OMIM:300323
HP:0001417	X-linked inheritance	7547	ZIC3	OMIM:314390
HP:0001417	X-linked inheritance	7547	ZIC3	OMIM:306955
HP:0001417	X-linked inheritance	2187	FANCB	OMIM:314390
HP:0001417	X-linked inheritance	2187	FANCB	OMIM:300514
HP:0001417	X-linked inheritance	8481	OFD1	OMIM:300209
HP:0001417	X-linked inheritance	8481	OFD1	OMIM:300424
HP:0001417	X-linked inheritance	8481	OFD1	OMIM:300804
HP:0001417	X-linked inheritance	554	AVPR2	OMIM:304800
HP:0001417	X-linked inheritance	554	AVPR2	OMIM:300539
HP:0001417	X-linked inheritance	6901	TAFAZZIN	OMIM:302060
HP:0001417	X-linked inheritance	9968	MED12	OMIM:305450
HP:0001417	X-linked inheritance	9968	MED12	OMIM:300895
HP:0001417	X-linked inheritance	9968	MED12	OMIM:309520
HP:0001417	X-linked inheritance	2258	FGF13	OMIM:301095
HP:0001417	X-linked inheritance	2258	FGF13	OMIM:301058
HP:0001417	X-linked inheritance	415	ARSL	OMIM:302950
HP:0001417	X-linked inheritance	5354	PLP1	OMIM:312080
HP:0001417	X-linked inheritance	5354	PLP1	OMIM:312920
HP:0001417	X-linked inheritance	8242	KDM5C	OMIM:300534
HP:0001417	X-linked inheritance	5230	PGK1	OMIM:300653
HP:0001417	X-linked inheritance	2717	GLA	OMIM:301500
HP:0001417	X-linked inheritance	3423	IDS	OMIM:309900
HP:0001417	X-linked inheritance	254065	BRWD3	OMIM:300659
HP:0001417	X-linked inheritance	546	ATRX	OMIM:309580
HP:0001417	X-linked inheritance	6611	SMS	OMIM:309583
HP:0001417	X-linked inheritance	81887	LAS1L	OMIM:309585
HP:0001417	X-linked inheritance	9075	CLDN2	OMIM:301060
HP:0001417	X-linked inheritance	2000	ELF4	OMIM:301074
HP:0001417	X-linked inheritance	3730	ANOS1	OMIM:308700
HP:0001417	X-linked inheritance	1536	CYBB	OMIM:306400
HP:0001417	X-linked inheritance	1536	CYBB	OMIM:300645
HP:0001417	X-linked inheritance	3897	L1CAM	OMIM:304100
HP:0001417	X-linked inheritance	3897	L1CAM	OMIM:303350
HP:0001417	X-linked inheritance	3897	L1CAM	OMIM:307000
HP:0001417	X-linked inheritance	23676	SMPX	OMIM:301075
HP:0001417	X-linked inheritance	5631	PRPS1	OMIM:300661
HP:0001417	X-linked inheritance	5631	PRPS1	OMIM:311070
HP:0001417	X-linked inheritance	5631	PRPS1	OMIM:301835
HP:0001417	X-linked inheritance	5631	PRPS1	OMIM:304500
HP:0001417	X-linked inheritance	6872	TAF1	OMIM:314250
HP:0001417	X-linked inheritance	6872	TAF1	OMIM:300966
HP:0001417	X-linked inheritance	2719	GPC3	OMIM:312870
HP:0001417	X-linked inheritance	2239	GPC4	OMIM:312870
HP:0001417	X-linked inheritance	2239	GPC4	OMIM:301026
HP:0001417	X-linked inheritance	5277	PIGA	OMIM:301072
HP:0001417	X-linked inheritance	5277	PIGA	OMIM:300868
HP:0001417	X-linked inheritance	8905	AP1S2	OMIM:304340
HP:0001417	X-linked inheritance	9949	AMMECR1	OMIM:300990
HP:0001417	X-linked inheritance	139212	DNAAF6	OMIM:300991
HP:0001417	X-linked inheritance	212	ALAS2	OMIM:300751
HP:0001417	X-linked inheritance	55217	TMLHE	OMIM:300872
HP:0001417	X-linked inheritance	2245	FGD1	OMIM:305400
HP:0001417	X-linked inheritance	695	BTK	OMIM:300755
HP:0001417	X-linked inheritance	695	BTK	OMIM:307200
HP:0001417	X-linked inheritance	6134	RPL10	OMIM:300998
HP:0001417	X-linked inheritance	10046	MAMLD1	OMIM:300758
HP:0001417	X-linked inheritance	5199	CFP	OMIM:312060
HP:0001417	X-linked inheritance	8473	OGT	OMIM:300997
HP:0001417	X-linked inheritance	203547	VMA21	OMIM:310440
HP:0001417	X-linked inheritance	3561	IL2RG	OMIM:312863
HP:0001417	X-linked inheritance	3561	IL2RG	OMIM:300400
HP:0001417	X-linked inheritance	50943	FOXP3	OMIM:304790
HP:0001417	X-linked inheritance	959	CD40LG	OMIM:308230
HP:0001417	X-linked inheritance	55593	OTUD5	OMIM:301056
HP:0001417	X-linked inheritance	286464	CFAP47	OMIM:301059
HP:0001417	X-linked inheritance	6094	ROM1	OMIM:268000
HP:0001417	X-linked inheritance	7401	CLRN1	OMIM:268000
HP:0001417	X-linked inheritance	157657	CFAP418	OMIM:268000
HP:0001417	X-linked inheritance	9227	LRAT	OMIM:268000
HP:0001417	X-linked inheritance	5949	RBP3	OMIM:268000
HP:0001417	X-linked inheritance	1259	CNGA1	OMIM:268000
HP:0001417	X-linked inheritance	5148	PDE6G	OMIM:268000
HP:0001417	X-linked inheritance	23746	AIPL1	OMIM:268000
HP:0001417	X-linked inheritance	1406	CRX	OMIM:268000
HP:0001417	X-linked inheritance	84100	ARL6	OMIM:268000
HP:0001417	X-linked inheritance	6567	SLC16A2	OMIM:300523
HP:0001417	X-linked inheritance	3547	IGSF1	OMIM:300888
HP:0001417	X-linked inheritance	51284	TLR7	OMIM:301051
HP:0001417	X-linked inheritance	4068	SH2D1A	OMIM:308240
HP:0001417	X-linked inheritance	2710	GK	OMIM:307030
HP:0001417	X-linked inheritance	84679	SLC9A7	OMIM:301024
HP:0001417	X-linked inheritance	90161	HS6ST2	OMIM:301025
HP:0001417	X-linked inheritance	10916	MAGED2	OMIM:300971
HP:0001417	X-linked inheritance	4694	NDUFA1	OMIM:301020
HP:0001417	X-linked inheritance	7454	WAS	OMIM:300299
HP:0001417	X-linked inheritance	7454	WAS	OMIM:301000
HP:0001417	X-linked inheritance	7454	WAS	OMIM:313900
HP:0001417	X-linked inheritance	84061	MAGT1	OMIM:300853
HP:0001417	X-linked inheritance	84061	MAGT1	OMIM:301031
HP:0001417	X-linked inheritance	51132	RLIM	OMIM:300978
HP:0001417	X-linked inheritance	2334	AFF2	OMIM:309548
HP:0001417	X-linked inheritance	537	ATP6AP1	OMIM:300972
HP:0001417	X-linked inheritance	55906	ZC4H2	OMIM:314580
HP:0001417	X-linked inheritance	4128	MAOA	OMIM:300615
HP:0001417	X-linked inheritance	24140	FTSJ1	OMIM:309549
HP:0001417	X-linked inheritance	63035	BCORL1	OMIM:301029
HP:0001417	X-linked inheritance	23229	ARHGEF9	OMIM:300607
HP:0001417	X-linked inheritance	3054	HCFC1	OMIM:309541
HP:0001417	X-linked inheritance	91851	CHRDL1	OMIM:309300
HP:0001417	X-linked inheritance	116442	RAB39B	OMIM:311510
HP:0001417	X-linked inheritance	116442	RAB39B	OMIM:300271
HP:0001417	X-linked inheritance	2010	EMD	OMIM:310300
HP:0001417	X-linked inheritance	8471	IRS4	OMIM:301035
HP:0001417	X-linked inheritance	80311	KLHL15	OMIM:300982
HP:0001417	X-linked inheritance	5422	POLA1	OMIM:301030
HP:0001417	X-linked inheritance	5422	POLA1	OMIM:301220
HP:0001417	X-linked inheritance	7319	UBE2A	OMIM:300860
HP:0001417	X-linked inheritance	4478	MSN	OMIM:300988
HP:0001417	X-linked inheritance	7317	UBA1	OMIM:301830
HP:0001417	X-linked inheritance	9758	FRMPD4	OMIM:300983
HP:0001417	X-linked inheritance	79576	NKAP	OMIM:301039
HP:0001417	X-linked inheritance	389856	USP27X	OMIM:300984
HP:0001417	X-linked inheritance	412	STS	OMIM:308100
HP:0001417	X-linked inheritance	50814	NSDHL	OMIM:300831
HP:0001417	X-linked inheritance	139411	PTCHD1	OMIM:300830
HP:0001417	X-linked inheritance	57187	THOC2	OMIM:300957
HP:0001417	X-linked inheritance	8270	LAGE3	OMIM:301006
HP:0001417	X-linked inheritance	6247	RS1	OMIM:312700
HP:0001417	X-linked inheritance	4534	MTM1	OMIM:310400
HP:0001417	X-linked inheritance	5456	POU3F4	OMIM:304400
HP:0001417	X-linked inheritance	2706	GJB2	OMIM:304400
HP:0001417	X-linked inheritance	10804	GJB6	OMIM:304400
HP:0001417	X-linked inheritance	286410	ATP11C	OMIM:301015
HP:0001417	X-linked inheritance	10682	EBP	OMIM:300960
HP:0001417	X-linked inheritance	2157	F8	OMIM:306700
HP:0001417	X-linked inheritance	4841	NONO	OMIM:300967
HP:0001417	X-linked inheritance	79983	POF1B	OMIM:300604
HP:0001417	X-linked inheritance	114928	GPRASP2	OMIM:301018
HP:0001417	X-linked inheritance	28952	CCDC22	OMIM:300963
HP:0001417	X-linked inheritance	1654	DDX3X	OMIM:300958
HP:0001417	X-linked inheritance	23096	IQSEC2	OMIM:309530
HP:0001417	X-linked inheritance	84295	PHF6	OMIM:301900
HP:0001417	X-linked inheritance	10084	PQBP1	OMIM:309500
HP:0001417	X-linked inheritance	139818	DOCK11	OMIM:301109
HP:0001417	X-linked inheritance	6748	SSR4	OMIM:300934
HP:0001417	X-linked inheritance	11043	MID2	OMIM:300928
HP:0001417	X-linked inheritance	60506	NYX	OMIM:310500
HP:0001417	X-linked inheritance	23133	PHF8	OMIM:300263
HP:0001417	X-linked inheritance	29071	C1GALT1C1	OMIM:301110
HP:0001417	X-linked inheritance	11141	IL1RAPL1	OMIM:300143
HP:0001417	X-linked inheritance	1968	EIF2S3	OMIM:300148
HP:0001417	X-linked inheritance	90121	TSR2	OMIM:300946
HP:0001417	X-linked inheritance	28985	MCTS1	OMIM:301115
HP:0001417	X-linked inheritance	1478	CSTF2	OMIM:301116
HP:0001417	X-linked inheritance	8823	FGF16	OMIM:309630
HP:0001417	X-linked inheritance	5256	PHKA2	OMIM:306000
HP:0001417	X-linked inheritance	265	AMELX	OMIM:301200
HP:0001417	X-linked inheritance	64840	PORCN	OMIM:305600
HP:0001417	X-linked inheritance	1947	EFNB1	OMIM:304110
HP:0001417	X-linked inheritance	6792	CDKL5	OMIM:300672
HP:0001417	X-linked inheritance	1730	DIAPH2	OMIM:300511
HP:0001417	X-linked inheritance	340533	NEXMIF	OMIM:300912
HP:0001417	X-linked inheritance	1183	CLCN4	OMIM:300114
HP:0001417	X-linked inheritance	1349	COX7B	OMIM:309801
HP:0001417	X-linked inheritance	1349	COX7B	OMIM:300887
HP:0001417	X-linked inheritance	3052	HCCS	OMIM:309801
HP:0001417	X-linked inheritance	3028	HSD17B10	OMIM:300438
HP:0001417	X-linked inheritance	7737	RNF113A	OMIM:300953
HP:0001417	X-linked inheritance	92002	CCNQ	OMIM:300707
HP:0001417	X-linked inheritance	2539	G6PD	OMIM:300908
HP:0001417	X-linked inheritance	5165	PDK3	OMIM:300905
HP:0001417	X-linked inheritance	6736	SRY	OMIM:400045
HP:0001417	X-linked inheritance	5160	PDHA1	OMIM:312170
HP:0001417	X-linked inheritance	9338	TCEAL1	OMIM:301094
HP:0001417	X-linked inheritance	139285	AMER1	OMIM:300373
HP:0001417	X-linked inheritance	5251	PHEX	OMIM:307800
HP:0001417	X-linked inheritance	11152	WDR45	OMIM:300894
HP:0001417	X-linked inheritance	7355	SLC35A2	OMIM:300896
HP:0001417	X-linked inheritance	3920	LAMP2	OMIM:300257
HP:0001417	X-linked inheritance	29978	UBQLN2	OMIM:300857
HP:0001417	X-linked inheritance	9203	ZMYM3	OMIM:301111
HP:0001417	X-linked inheritance	2182	ACSL4	OMIM:300387
HP:0001417	X-linked inheritance	10943	MSL3	OMIM:301032
HP:0001417	X-linked inheritance	10013	HDAC6	OMIM:300863
HP:0001417	X-linked inheritance	2705	GJB1	OMIM:302800
HP:0001417	X-linked inheritance	7403	KDM6A	OMIM:300867
HP:0001417	X-linked inheritance	3188	HNRNPH2	OMIM:300986
HP:0001419	X-linked recessive inheritance	3476	IGBP1	OMIM:300472
HP:0001419	X-linked recessive inheritance	8243	SMC1A	OMIM:300590
HP:0001419	X-linked recessive inheritance	778	CACNA1F	OMIM:300476
HP:0001419	X-linked recessive inheritance	8450	CUL4B	OMIM:300354
HP:0001419	X-linked recessive inheritance	10134	BCAP31	OMIM:300475
HP:0001419	X-linked recessive inheritance	9131	AIFM1	OMIM:300232
HP:0001419	X-linked recessive inheritance	9131	AIFM1	OMIM:310490
HP:0001419	X-linked recessive inheritance	9131	AIFM1	OMIM:300614
HP:0001419	X-linked recessive inheritance	9131	AIFM1	OMIM:300816
HP:0001419	X-linked recessive inheritance	6535	SLC6A8	OMIM:300352
HP:0001419	X-linked recessive inheritance	27316	RBMX	OMIM:300238
HP:0001419	X-linked recessive inheritance	10159	ATP6AP2	OMIM:300911
HP:0001419	X-linked recessive inheritance	10159	ATP6AP2	OMIM:300423
HP:0001419	X-linked recessive inheritance	10159	ATP6AP2	OMIM:301045
HP:0001419	X-linked recessive inheritance	5009	OTC	OMIM:311250
HP:0001419	X-linked recessive inheritance	4693	NDP	OMIM:310600
HP:0001419	X-linked recessive inheritance	4693	NDP	OMIM:305390
HP:0001419	X-linked recessive inheritance	1736	DKC1	OMIM:305000
HP:0001419	X-linked recessive inheritance	538	ATP7A	OMIM:304150
HP:0001419	X-linked recessive inheritance	538	ATP7A	OMIM:300489
HP:0001419	X-linked recessive inheritance	538	ATP7A	OMIM:309400
HP:0001419	X-linked recessive inheritance	1184	CLCN5	OMIM:308990
HP:0001419	X-linked recessive inheritance	1184	CLCN5	OMIM:300009
HP:0001419	X-linked recessive inheritance	1184	CLCN5	OMIM:300554
HP:0001419	X-linked recessive inheritance	1184	CLCN5	OMIM:310468
HP:0001419	X-linked recessive inheritance	2158	F9	OMIM:306900
HP:0001419	X-linked recessive inheritance	2158	F9	OMIM:300807
HP:0001419	X-linked recessive inheritance	4983	OPHN1	OMIM:300486
HP:0001419	X-linked recessive inheritance	10479	SLC9A6	OMIM:300243
HP:0001419	X-linked recessive inheritance	4281	MID1	OMIM:300000
HP:0001419	X-linked recessive inheritance	65267	WNK3	OMIM:309610
HP:0001419	X-linked recessive inheritance	24137	KIF4A	OMIM:300923
HP:0001419	X-linked recessive inheritance	2623	GATA1	OMIM:300367
HP:0001419	X-linked recessive inheritance	2623	GATA1	OMIM:314050
HP:0001419	X-linked recessive inheritance	2623	GATA1	OMIM:301083
HP:0001419	X-linked recessive inheritance	2623	GATA1	OMIM:300835
HP:0001419	X-linked recessive inheritance	6855	SYP	OMIM:300802
HP:0001419	X-linked recessive inheritance	51360	MBTPS2	OMIM:300918
HP:0001419	X-linked recessive inheritance	51360	MBTPS2	OMIM:308800
HP:0001419	X-linked recessive inheritance	51360	MBTPS2	OMIM:301014
HP:0001419	X-linked recessive inheritance	51360	MBTPS2	OMIM:308205
HP:0001419	X-linked recessive inheritance	8239	USP9X	OMIM:300919
HP:0001419	X-linked recessive inheritance	1288	COL4A6	OMIM:300914
HP:0001419	X-linked recessive inheritance	2273	FHL1	OMIM:300696
HP:0001419	X-linked recessive inheritance	2273	FHL1	OMIM:300280
HP:0001419	X-linked recessive inheritance	7102	TSPAN7	OMIM:300210
HP:0001419	X-linked recessive inheritance	1896	EDA	OMIM:305100
HP:0001419	X-linked recessive inheritance	2892	GRIA3	OMIM:300699
HP:0001419	X-linked recessive inheritance	6103	RPGR	OMIM:300455
HP:0001419	X-linked recessive inheritance	6103	RPGR	OMIM:300834
HP:0001419	X-linked recessive inheritance	22	ABCB7	OMIM:301310
HP:0001419	X-linked recessive inheritance	1678	TIMM8A	OMIM:304700
HP:0001419	X-linked recessive inheritance	215	ABCD1	OMIM:300100
HP:0001419	X-linked recessive inheritance	633	BGN	OMIM:300106
HP:0001419	X-linked recessive inheritance	6399	TRAPPC2	OMIM:313400
HP:0001419	X-linked recessive inheritance	8241	RBM10	OMIM:311900
HP:0001419	X-linked recessive inheritance	30011	SH3KBP1	OMIM:300310
HP:0001419	X-linked recessive inheritance	4204	MECP2	OMIM:300673
HP:0001419	X-linked recessive inheritance	4204	MECP2	OMIM:300055
HP:0001419	X-linked recessive inheritance	4204	MECP2	OMIM:300260
HP:0001419	X-linked recessive inheritance	4952	OCRL	OMIM:300555
HP:0001419	X-linked recessive inheritance	4952	OCRL	OMIM:309000
HP:0001419	X-linked recessive inheritance	65109	UPF3B	OMIM:300676
HP:0001419	X-linked recessive inheritance	5956	OPN1LW	OMIM:303700
HP:0001419	X-linked recessive inheritance	5956	OPN1LW	OMIM:303900
HP:0001419	X-linked recessive inheritance	2652	OPN1MW	OMIM:303700
HP:0001419	X-linked recessive inheritance	2652	OPN1MW	OMIM:303800
HP:0001419	X-linked recessive inheritance	5255	PHKA1	OMIM:300559
HP:0001419	X-linked recessive inheritance	5063	PAK3	OMIM:300558
HP:0001419	X-linked recessive inheritance	367	AR	OMIM:312300
HP:0001419	X-linked recessive inheritance	367	AR	OMIM:300633
HP:0001419	X-linked recessive inheritance	367	AR	OMIM:300068
HP:0001419	X-linked recessive inheritance	367	AR	OMIM:313200
HP:0001419	X-linked recessive inheritance	54440	SASH3	OMIM:301082
HP:0001419	X-linked recessive inheritance	56159	TEX11	OMIM:309120
HP:0001419	X-linked recessive inheritance	492	ATP2B3	OMIM:302500
HP:0001419	X-linked recessive inheritance	3251	HPRT1	OMIM:300322
HP:0001419	X-linked recessive inheritance	3251	HPRT1	OMIM:300323
HP:0001419	X-linked recessive inheritance	190	NR0B1	OMIM:300200
HP:0001419	X-linked recessive inheritance	7547	ZIC3	OMIM:314390
HP:0001419	X-linked recessive inheritance	7547	ZIC3	OMIM:306955
HP:0001419	X-linked recessive inheritance	2187	FANCB	OMIM:314390
HP:0001419	X-linked recessive inheritance	2187	FANCB	OMIM:300514
HP:0001419	X-linked recessive inheritance	8481	OFD1	OMIM:300209
HP:0001419	X-linked recessive inheritance	8481	OFD1	OMIM:300424
HP:0001419	X-linked recessive inheritance	8481	OFD1	OMIM:300804
HP:0001419	X-linked recessive inheritance	554	AVPR2	OMIM:304800
HP:0001419	X-linked recessive inheritance	554	AVPR2	OMIM:300539
HP:0001419	X-linked recessive inheritance	6901	TAFAZZIN	OMIM:302060
HP:0001419	X-linked recessive inheritance	9968	MED12	OMIM:305450
HP:0001419	X-linked recessive inheritance	9968	MED12	OMIM:300895
HP:0001419	X-linked recessive inheritance	9968	MED12	OMIM:309520
HP:0001419	X-linked recessive inheritance	2258	FGF13	OMIM:301095
HP:0001419	X-linked recessive inheritance	2258	FGF13	OMIM:301058
HP:0001419	X-linked recessive inheritance	415	ARSL	OMIM:302950
HP:0001419	X-linked recessive inheritance	5354	PLP1	OMIM:312080
HP:0001419	X-linked recessive inheritance	5354	PLP1	OMIM:312920
HP:0001419	X-linked recessive inheritance	8242	KDM5C	OMIM:300534
HP:0001419	X-linked recessive inheritance	5230	PGK1	OMIM:300653
HP:0001419	X-linked recessive inheritance	2717	GLA	OMIM:301500
HP:0001419	X-linked recessive inheritance	3423	IDS	OMIM:309900
HP:0001419	X-linked recessive inheritance	254065	BRWD3	OMIM:300659
HP:0001419	X-linked recessive inheritance	546	ATRX	OMIM:309580
HP:0001419	X-linked recessive inheritance	6611	SMS	OMIM:309583
HP:0001419	X-linked recessive inheritance	81887	LAS1L	OMIM:309585
HP:0001419	X-linked recessive inheritance	9075	CLDN2	OMIM:301060
HP:0001419	X-linked recessive inheritance	2000	ELF4	OMIM:301074
HP:0001419	X-linked recessive inheritance	3730	ANOS1	OMIM:308700
HP:0001419	X-linked recessive inheritance	1536	CYBB	OMIM:306400
HP:0001419	X-linked recessive inheritance	1536	CYBB	OMIM:300645
HP:0001419	X-linked recessive inheritance	3897	L1CAM	OMIM:304100
HP:0001419	X-linked recessive inheritance	3897	L1CAM	OMIM:303350
HP:0001419	X-linked recessive inheritance	3897	L1CAM	OMIM:307000
HP:0001419	X-linked recessive inheritance	23676	SMPX	OMIM:301075
HP:0001419	X-linked recessive inheritance	5631	PRPS1	OMIM:300661
HP:0001419	X-linked recessive inheritance	5631	PRPS1	OMIM:311070
HP:0001419	X-linked recessive inheritance	5631	PRPS1	OMIM:301835
HP:0001419	X-linked recessive inheritance	5631	PRPS1	OMIM:304500
HP:0001419	X-linked recessive inheritance	6872	TAF1	OMIM:314250
HP:0001419	X-linked recessive inheritance	6872	TAF1	OMIM:300966
HP:0001419	X-linked recessive inheritance	170302	ARX	OMIM:300419
HP:0001419	X-linked recessive inheritance	170302	ARX	OMIM:308350
HP:0001419	X-linked recessive inheritance	170302	ARX	OMIM:309510
HP:0001419	X-linked recessive inheritance	2719	GPC3	OMIM:312870
HP:0001419	X-linked recessive inheritance	2239	GPC4	OMIM:312870
HP:0001419	X-linked recessive inheritance	2239	GPC4	OMIM:301026
HP:0001419	X-linked recessive inheritance	5277	PIGA	OMIM:301072
HP:0001419	X-linked recessive inheritance	5277	PIGA	OMIM:300868
HP:0001419	X-linked recessive inheritance	8905	AP1S2	OMIM:304340
HP:0001419	X-linked recessive inheritance	9949	AMMECR1	OMIM:300990
HP:0001419	X-linked recessive inheritance	139212	DNAAF6	OMIM:300991
HP:0001419	X-linked recessive inheritance	212	ALAS2	OMIM:300751
HP:0001419	X-linked recessive inheritance	55217	TMLHE	OMIM:300872
HP:0001419	X-linked recessive inheritance	2245	FGD1	OMIM:305400
HP:0001419	X-linked recessive inheritance	10735	STAG2	OMIM:301043
HP:0001419	X-linked recessive inheritance	695	BTK	OMIM:300755
HP:0001419	X-linked recessive inheritance	695	BTK	OMIM:307200
HP:0001419	X-linked recessive inheritance	6134	RPL10	OMIM:300998
HP:0001419	X-linked recessive inheritance	10046	MAMLD1	OMIM:300758
HP:0001419	X-linked recessive inheritance	8517	IKBKG	OMIM:300636
HP:0001419	X-linked recessive inheritance	8517	IKBKG	OMIM:300291
HP:0001419	X-linked recessive inheritance	5199	CFP	OMIM:312060
HP:0001419	X-linked recessive inheritance	331	XIAP	OMIM:300635
HP:0001419	X-linked recessive inheritance	331	XIAP	OMIM:308240
HP:0001419	X-linked recessive inheritance	8473	OGT	OMIM:300997
HP:0001419	X-linked recessive inheritance	1756	DMD	OMIM:310200
HP:0001419	X-linked recessive inheritance	1756	DMD	OMIM:300376
HP:0001419	X-linked recessive inheritance	203547	VMA21	OMIM:310440
HP:0001419	X-linked recessive inheritance	3561	IL2RG	OMIM:312863
HP:0001419	X-linked recessive inheritance	3561	IL2RG	OMIM:300400
HP:0001419	X-linked recessive inheritance	50943	FOXP3	OMIM:304790
HP:0001419	X-linked recessive inheritance	959	CD40LG	OMIM:308230
HP:0001419	X-linked recessive inheritance	55593	OTUD5	OMIM:301056
HP:0001419	X-linked recessive inheritance	286464	CFAP47	OMIM:301059
HP:0001419	X-linked recessive inheritance	6094	ROM1	OMIM:268000
HP:0001419	X-linked recessive inheritance	7401	CLRN1	OMIM:268000
HP:0001419	X-linked recessive inheritance	157657	CFAP418	OMIM:268000
HP:0001419	X-linked recessive inheritance	9227	LRAT	OMIM:268000
HP:0001419	X-linked recessive inheritance	5949	RBP3	OMIM:268000
HP:0001419	X-linked recessive inheritance	1259	CNGA1	OMIM:268000
HP:0001419	X-linked recessive inheritance	5148	PDE6G	OMIM:268000
HP:0001419	X-linked recessive inheritance	23746	AIPL1	OMIM:268000
HP:0001419	X-linked recessive inheritance	1406	CRX	OMIM:268000
HP:0001419	X-linked recessive inheritance	84100	ARL6	OMIM:268000
HP:0001419	X-linked recessive inheritance	6567	SLC16A2	OMIM:300523
HP:0001419	X-linked recessive inheritance	3547	IGSF1	OMIM:300888
HP:0001419	X-linked recessive inheritance	51284	TLR7	OMIM:301051
HP:0001419	X-linked recessive inheritance	4068	SH2D1A	OMIM:308240
HP:0001419	X-linked recessive inheritance	2710	GK	OMIM:307030
HP:0001419	X-linked recessive inheritance	84679	SLC9A7	OMIM:301024
HP:0001419	X-linked recessive inheritance	90161	HS6ST2	OMIM:301025
HP:0001419	X-linked recessive inheritance	10916	MAGED2	OMIM:300971
HP:0001419	X-linked recessive inheritance	1741	DLG3	OMIM:300850
HP:0001419	X-linked recessive inheritance	4694	NDUFA1	OMIM:301020
HP:0001419	X-linked recessive inheritance	7454	WAS	OMIM:300299
HP:0001419	X-linked recessive inheritance	7454	WAS	OMIM:301000
HP:0001419	X-linked recessive inheritance	7454	WAS	OMIM:313900
HP:0001419	X-linked recessive inheritance	2316	FLNA	OMIM:305620
HP:0001419	X-linked recessive inheritance	2316	FLNA	OMIM:300048
HP:0001419	X-linked recessive inheritance	84061	MAGT1	OMIM:300853
HP:0001419	X-linked recessive inheritance	84061	MAGT1	OMIM:301031
HP:0001419	X-linked recessive inheritance	51132	RLIM	OMIM:300978
HP:0001419	X-linked recessive inheritance	2334	AFF2	OMIM:309548
HP:0001419	X-linked recessive inheritance	537	ATP6AP1	OMIM:300972
HP:0001419	X-linked recessive inheritance	55906	ZC4H2	OMIM:314580
HP:0001419	X-linked recessive inheritance	4128	MAOA	OMIM:300615
HP:0001419	X-linked recessive inheritance	24140	FTSJ1	OMIM:309549
HP:0001419	X-linked recessive inheritance	63035	BCORL1	OMIM:301029
HP:0001419	X-linked recessive inheritance	8260	NAA10	OMIM:300855
HP:0001419	X-linked recessive inheritance	23229	ARHGEF9	OMIM:300607
HP:0001419	X-linked recessive inheritance	3054	HCFC1	OMIM:309541
HP:0001419	X-linked recessive inheritance	91851	CHRDL1	OMIM:309300
HP:0001419	X-linked recessive inheritance	116442	RAB39B	OMIM:311510
HP:0001419	X-linked recessive inheritance	116442	RAB39B	OMIM:300271
HP:0001419	X-linked recessive inheritance	2010	EMD	OMIM:310300
HP:0001419	X-linked recessive inheritance	8471	IRS4	OMIM:301035
HP:0001419	X-linked recessive inheritance	80311	KLHL15	OMIM:300982
HP:0001419	X-linked recessive inheritance	5422	POLA1	OMIM:301030
HP:0001419	X-linked recessive inheritance	5422	POLA1	OMIM:301220
HP:0001419	X-linked recessive inheritance	7319	UBE2A	OMIM:300860
HP:0001419	X-linked recessive inheritance	4478	MSN	OMIM:300988
HP:0001419	X-linked recessive inheritance	7317	UBA1	OMIM:301830
HP:0001419	X-linked recessive inheritance	9758	FRMPD4	OMIM:300983
HP:0001419	X-linked recessive inheritance	79576	NKAP	OMIM:301039
HP:0001419	X-linked recessive inheritance	389856	USP27X	OMIM:300984
HP:0001419	X-linked recessive inheritance	412	STS	OMIM:308100
HP:0001419	X-linked recessive inheritance	50814	NSDHL	OMIM:300831
HP:0001419	X-linked recessive inheritance	139411	PTCHD1	OMIM:300830
HP:0001419	X-linked recessive inheritance	57187	THOC2	OMIM:300957
HP:0001419	X-linked recessive inheritance	8270	LAGE3	OMIM:301006
HP:0001419	X-linked recessive inheritance	6247	RS1	OMIM:312700
HP:0001419	X-linked recessive inheritance	4534	MTM1	OMIM:310400
HP:0001419	X-linked recessive inheritance	5456	POU3F4	OMIM:304400
HP:0001419	X-linked recessive inheritance	2706	GJB2	OMIM:304400
HP:0001419	X-linked recessive inheritance	10804	GJB6	OMIM:304400
HP:0001419	X-linked recessive inheritance	286410	ATP11C	OMIM:301015
HP:0001419	X-linked recessive inheritance	10682	EBP	OMIM:300960
HP:0001419	X-linked recessive inheritance	2157	F8	OMIM:306700
HP:0001419	X-linked recessive inheritance	4841	NONO	OMIM:300967
HP:0001419	X-linked recessive inheritance	79983	POF1B	OMIM:300604
HP:0001419	X-linked recessive inheritance	114928	GPRASP2	OMIM:301018
HP:0001419	X-linked recessive inheritance	28952	CCDC22	OMIM:300963
HP:0001419	X-linked recessive inheritance	1654	DDX3X	OMIM:300958
HP:0001419	X-linked recessive inheritance	23096	IQSEC2	OMIM:309530
HP:0001419	X-linked recessive inheritance	6853	SYN1	OMIM:300491
HP:0001419	X-linked recessive inheritance	84295	PHF6	OMIM:301900
HP:0001419	X-linked recessive inheritance	10084	PQBP1	OMIM:309500
HP:0001419	X-linked recessive inheritance	139818	DOCK11	OMIM:301109
HP:0001419	X-linked recessive inheritance	6748	SSR4	OMIM:300934
HP:0001419	X-linked recessive inheritance	4935	GPR143	OMIM:300814
HP:0001419	X-linked recessive inheritance	11043	MID2	OMIM:300928
HP:0001419	X-linked recessive inheritance	60506	NYX	OMIM:310500
HP:0001419	X-linked recessive inheritance	23133	PHF8	OMIM:300263
HP:0001419	X-linked recessive inheritance	9130	FAM50A	OMIM:300261
HP:0001419	X-linked recessive inheritance	29071	C1GALT1C1	OMIM:301110
HP:0001419	X-linked recessive inheritance	11141	IL1RAPL1	OMIM:300143
HP:0001419	X-linked recessive inheritance	1968	EIF2S3	OMIM:300148
HP:0001419	X-linked recessive inheritance	90121	TSR2	OMIM:300946
HP:0001419	X-linked recessive inheritance	28985	MCTS1	OMIM:301115
HP:0001419	X-linked recessive inheritance	1478	CSTF2	OMIM:301116
HP:0001419	X-linked recessive inheritance	8823	FGF16	OMIM:309630
HP:0001419	X-linked recessive inheritance	5256	PHKA2	OMIM:306000
HP:0030786	Photopsia	138050	HGSNAT	OMIM:616544
HP:0030786	Photopsia	138050	HGSNAT	ORPHA:791
HP:0030786	Photopsia	8842	PROM1	ORPHA:827
HP:0030786	Photopsia	8842	PROM1	ORPHA:791
HP:0030786	Photopsia	5961	PRPH2	ORPHA:827
HP:0030786	Photopsia	5961	PRPH2	ORPHA:791
HP:0030786	Photopsia	6785	ELOVL4	ORPHA:827
HP:0030786	Photopsia	24	ABCA4	ORPHA:827
HP:0030786	Photopsia	24	ABCA4	ORPHA:791
HP:0030786	Photopsia	54714	CNGB3	ORPHA:827
HP:0030786	Photopsia	92840	REEP6	ORPHA:791
HP:0030786	Photopsia	6094	ROM1	ORPHA:791
HP:0030786	Photopsia	6017	RLBP1	ORPHA:791
HP:0030786	Photopsia	7401	CLRN1	ORPHA:791
HP:0030786	Photopsia	130557	ZNF513	ORPHA:791
HP:0030786	Photopsia	582	BBS1	ORPHA:791
HP:0030786	Photopsia	92211	CDHR1	ORPHA:791
HP:0030786	Photopsia	23568	ARL2BP	ORPHA:791
HP:0030786	Photopsia	6121	RPE65	ORPHA:791
HP:0030786	Photopsia	54806	AHI1	ORPHA:791
HP:0030786	Photopsia	6101	RP1	ORPHA:791
HP:0030786	Photopsia	3419	IDH3A	ORPHA:791
HP:0030786	Photopsia	4751	NEK2	ORPHA:791
HP:0030786	Photopsia	346007	EYS	ORPHA:791
HP:0030786	Photopsia	8100	IFT88	ORPHA:791
HP:0030786	Photopsia	23020	SNRNP200	ORPHA:791
HP:0030786	Photopsia	762	CA4	ORPHA:791
HP:0030786	Photopsia	196	AHR	ORPHA:791
HP:0030786	Photopsia	3614	IMPDH1	ORPHA:791
HP:0030786	Photopsia	123016	TTC8	ORPHA:791
HP:0030786	Photopsia	6103	RPGR	ORPHA:791
HP:0030786	Photopsia	1406	CRX	ORPHA:791
HP:0030786	Photopsia	5148	PDE6G	ORPHA:791
HP:0030786	Photopsia	26160	IFT172	ORPHA:791
HP:0030786	Photopsia	26121	PRPF31	ORPHA:791
HP:0030786	Photopsia	583	BBS2	ORPHA:791
HP:0030786	Photopsia	4117	MAK	ORPHA:791
HP:0030786	Photopsia	25794	FSCN2	ORPHA:791
HP:0030786	Photopsia	375298	CERKL	ORPHA:791
HP:0030786	Photopsia	3420	IDH3B	ORPHA:791
HP:0030786	Photopsia	57670	KIAA1549	ORPHA:791
HP:0030786	Photopsia	7275	TUB	ORPHA:791
HP:0030786	Photopsia	24148	PRPF6	ORPHA:791
HP:0030786	Photopsia	23418	CRB1	ORPHA:791
HP:0030786	Photopsia	10461	MERTK	ORPHA:791
HP:0030786	Photopsia	57709	SLC7A14	ORPHA:791
HP:0030786	Photopsia	768206	PRCD	ORPHA:791
HP:0030786	Photopsia	7399	USH2A	ORPHA:791
HP:0030786	Photopsia	23370	ARHGEF18	ORPHA:791
HP:0030786	Photopsia	23370	ARHGEF18	OMIM:617433
HP:0030786	Photopsia	5949	RBP3	ORPHA:791
HP:0030786	Photopsia	6010	RHO	ORPHA:791
HP:0030786	Photopsia	6100	RP9	ORPHA:791
HP:0030786	Photopsia	10002	NR2E3	ORPHA:791
HP:0030786	Photopsia	9227	LRAT	ORPHA:791
HP:0030786	Photopsia	84140	FAM161A	ORPHA:791
HP:0030786	Photopsia	55812	SPATA7	ORPHA:791
HP:0030786	Photopsia	55624	POMGNT1	ORPHA:791
HP:0030786	Photopsia	79797	ZNF408	ORPHA:791
HP:0030786	Photopsia	403	ARL3	ORPHA:791
HP:0030786	Photopsia	5145	PDE6A	ORPHA:791
HP:0030786	Photopsia	10210	TOPORS	ORPHA:791
HP:0030786	Photopsia	9128	PRPF4	ORPHA:791
HP:0030786	Photopsia	145226	RDH12	ORPHA:791
HP:0030786	Photopsia	50939	IMPG2	ORPHA:791
HP:0030786	Photopsia	57545	CC2D2A	ORPHA:791
HP:0030786	Photopsia	8481	OFD1	ORPHA:791
HP:0030786	Photopsia	49855	SCAPER	ORPHA:791
HP:0030786	Photopsia	9742	IFT140	ORPHA:791
HP:0030786	Photopsia	2979	GUCA1B	ORPHA:791
HP:0030786	Photopsia	1259	CNGA1	ORPHA:791
HP:0030786	Photopsia	1258	CNGB1	ORPHA:791
HP:0030786	Photopsia	60509	AGBL5	ORPHA:791
HP:0030786	Photopsia	388939	PCARE	ORPHA:791
HP:0030786	Photopsia	7439	BEST1	ORPHA:791
HP:0030786	Photopsia	9785	DHX38	ORPHA:791
HP:0030786	Photopsia	7287	TULP1	ORPHA:791
HP:0030786	Photopsia	5995	RGR	ORPHA:791
HP:0030786	Photopsia	9129	PRPF3	ORPHA:791
HP:0030786	Photopsia	55975	KLHL7	ORPHA:791
HP:0030786	Photopsia	3617	IMPG1	ORPHA:791
HP:0030786	Photopsia	94137	RP1L1	ORPHA:791
HP:0030786	Photopsia	5158	PDE6B	ORPHA:791
HP:0030786	Photopsia	6102	RP2	ORPHA:791
HP:0030786	Photopsia	55857	KIZ	ORPHA:791
HP:0030786	Photopsia	64218	SEMA4A	ORPHA:791
HP:0030786	Photopsia	4901	NRL	ORPHA:791
HP:0030786	Photopsia	157657	CFAP418	ORPHA:791
HP:0030786	Photopsia	10594	PRPF8	ORPHA:791
HP:0030786	Photopsia	84100	ARL6	ORPHA:791
HP:0030786	Photopsia	6295	SAG	ORPHA:791
HP:0030786	Photopsia	79947	DHDDS	ORPHA:791
HP:0030786	Photopsia	8314	BAP1	ORPHA:39044
HP:0030786	Photopsia	57105	CYSLTR2	ORPHA:39044
HP:0030786	Photopsia	2776	GNAQ	ORPHA:39044
HP:0030786	Photopsia	2767	GNA11	ORPHA:39044
HP:0030786	Photopsia	23451	SF3B1	ORPHA:39044
HP:0030786	Photopsia	773	CACNA1A	ORPHA:569
HP:0030786	Photopsia	112476	PRRT2	ORPHA:569
HP:0030786	Photopsia	6323	SCN1A	ORPHA:569
HP:0030786	Photopsia	477	ATP1A2	ORPHA:569
HP:0030784	Anomic aphasia	5664	PSEN2	OMIM:606889
HP:0030784	Anomic aphasia	348	APOE	OMIM:606889
HP:0030784	Anomic aphasia	25978	CHMP2B	ORPHA:100069
HP:0030784	Anomic aphasia	5663	PSEN1	ORPHA:100069
HP:0030784	Anomic aphasia	2896	GRN	ORPHA:100069
HP:0030784	Anomic aphasia	54664	TMEM106B	ORPHA:100069
HP:0030784	Anomic aphasia	4137	MAPT	ORPHA:100069
HP:0030784	Anomic aphasia	4137	MAPT	ORPHA:240112
HP:0030784	Anomic aphasia	54209	TREM2	ORPHA:100069
HP:0030784	Anomic aphasia	5354	PLP1	ORPHA:280229
HP:0030783	Increased circulating interleukin 6 concentration	26191	PTPN22	ORPHA:397
HP:0030783	Increased circulating interleukin 6 concentration	3106	HLA-B	ORPHA:397
HP:0030783	Increased circulating interleukin 6 concentration	3123	HLA-DRB1	ORPHA:397
HP:0030783	Increased circulating interleukin 6 concentration	8974	P4HA2	ORPHA:397
HP:0030783	Increased circulating interleukin 6 concentration	5551	PRF1	ORPHA:540
HP:0030783	Increased circulating interleukin 6 concentration	8676	STX11	ORPHA:540
HP:0030783	Increased circulating interleukin 6 concentration	201294	UNC13D	ORPHA:540
HP:0030783	Increased circulating interleukin 6 concentration	6813	STXBP2	ORPHA:540
HP:0030783	Increased circulating interleukin 6 concentration	2000	ELF4	OMIM:301074
HP:0030783	Increased circulating interleukin 6 concentration	3162	HMOX1	OMIM:614034
HP:0030783	Increased circulating interleukin 6 concentration	5335	PLCG1	OMIM:620514
HP:0030783	Increased circulating interleukin 6 concentration	3570	IL6R	OMIM:618944
HP:0030783	Increased circulating interleukin 6 concentration	5696	PSMB8	OMIM:256040
HP:0030783	Increased circulating interleukin 6 concentration	54440	SASH3	OMIM:301082
HP:0030783	Increased circulating interleukin 6 concentration	4210	MEFV	ORPHA:3243
HP:0030783	Increased circulating interleukin 6 concentration	4210	MEFV	OMIM:608068
HP:0030783	Increased circulating interleukin 6 concentration	5777	PTPN6	ORPHA:3243
HP:0030783	Increased circulating interleukin 6 concentration	5698	PSMB9	OMIM:620796
HP:0030783	Increased circulating interleukin 6 concentration	868	CBLB	OMIM:620430
HP:0030783	Increased circulating interleukin 6 concentration	4067	LYN	OMIM:620376
HP:0011117	Abnormal circulating interleukin concentration	355	FAS	ORPHA:3261
HP:0011117	Abnormal circulating interleukin concentration	356	FASLG	ORPHA:3261
HP:0011117	Abnormal circulating interleukin concentration	843	CASP10	ORPHA:3261
HP:0011117	Abnormal circulating interleukin concentration	4210	MEFV	ORPHA:3243
HP:0011117	Abnormal circulating interleukin concentration	5777	PTPN6	ORPHA:3243
HP:0011117	Abnormal circulating interleukin concentration	3594	IL12RB1	ORPHA:319552
HP:0011117	Abnormal circulating interleukin concentration	3431	SP110	ORPHA:79124
HP:0011117	Abnormal circulating interleukin concentration	6775	STAT4	ORPHA:85410
HP:0011117	Abnormal circulating interleukin concentration	3560	IL2RB	ORPHA:85410
HP:0011117	Abnormal circulating interleukin concentration	79722	ANKRD55	ORPHA:85410
HP:0011117	Abnormal circulating interleukin concentration	26191	PTPN22	ORPHA:85410
HP:0011117	Abnormal circulating interleukin concentration	919	CD247	ORPHA:85410
HP:0011117	Abnormal circulating interleukin concentration	3559	IL2RA	ORPHA:85410
HP:0011117	Abnormal circulating interleukin concentration	5771	PTPN2	ORPHA:85410
HP:0011117	Abnormal circulating interleukin concentration	5205	ATP8B1	ORPHA:69665
HP:0011117	Abnormal circulating interleukin concentration	8647	ABCB11	ORPHA:69665
HP:0011117	Abnormal circulating interleukin concentration	5244	ABCB4	ORPHA:69665
HP:0011117	Abnormal circulating interleukin concentration	9971	NR1H4	ORPHA:69665
HP:0011117	Abnormal circulating interleukin concentration	3106	HLA-B	ORPHA:397
HP:0011117	Abnormal circulating interleukin concentration	3123	HLA-DRB1	ORPHA:397
HP:0011117	Abnormal circulating interleukin concentration	8974	P4HA2	ORPHA:397
HP:0011117	Abnormal circulating interleukin concentration	5551	PRF1	ORPHA:540
HP:0011117	Abnormal circulating interleukin concentration	8676	STX11	ORPHA:540
HP:0011117	Abnormal circulating interleukin concentration	201294	UNC13D	ORPHA:540
HP:0011117	Abnormal circulating interleukin concentration	6813	STXBP2	ORPHA:540
HP:0011117	Abnormal circulating interleukin concentration	2000	ELF4	OMIM:301074
HP:0011117	Abnormal circulating interleukin concentration	3162	HMOX1	OMIM:614034
HP:0011117	Abnormal circulating interleukin concentration	3570	IL6R	OMIM:618944
HP:0011117	Abnormal circulating interleukin concentration	54440	SASH3	OMIM:301082
HP:0011117	Abnormal circulating interleukin concentration	4067	LYN	OMIM:620376
HP:0011117	Abnormal circulating interleukin concentration	5335	PLCG1	OMIM:620514
HP:0011117	Abnormal circulating interleukin concentration	5422	POLA1	OMIM:301220
HP:0011117	Abnormal circulating interleukin concentration	5696	PSMB8	OMIM:256040
HP:0011117	Abnormal circulating interleukin concentration	868	CBLB	OMIM:620430
HP:0011117	Abnormal circulating interleukin concentration	8772	FADD	OMIM:613759
HP:0011117	Abnormal circulating interleukin concentration	29775	CARD10	OMIM:619632
HP:0011117	Abnormal circulating interleukin concentration	5698	PSMB9	OMIM:620796
HP:0030781	Increased circulating free fatty acid level	37	ACADVL	ORPHA:26793
HP:0030781	Increased circulating free fatty acid level	3158	HMGCS2	OMIM:605911
HP:0030781	Increased circulating free fatty acid level	208	AKT2	ORPHA:293964
HP:0030781	Increased circulating free fatty acid level	3033	HADH	ORPHA:71212
HP:0030781	Increased circulating free fatty acid level	22845	DOLK	OMIM:610768
HP:0030781	Increased circulating free fatty acid level	4000	LMNA	OMIM:151660
HP:0030781	Increased circulating free fatty acid level	132158	GLYCTK	ORPHA:941
HP:0004673	Decreased facial expression	7337	UBE3A	ORPHA:238446
HP:0004673	Decreased facial expression	2218	FKTN	ORPHA:272
HP:0004673	Decreased facial expression	2218	FKTN	OMIM:236670
HP:0004673	Decreased facial expression	3763	KCNJ6	ORPHA:435628
HP:0004673	Decreased facial expression	79876	UBA5	OMIM:617132
HP:0004673	Decreased facial expression	10159	ATP6AP2	ORPHA:363654
HP:0004673	Decreased facial expression	8106	PABPN1	ORPHA:270
HP:0004673	Decreased facial expression	8106	PABPN1	OMIM:164300
HP:0004673	Decreased facial expression	391356	PTRHD1	OMIM:620747
HP:0004673	Decreased facial expression	4361	MRE11	ORPHA:251347
HP:0004673	Decreased facial expression	4762	NEUROG1	OMIM:620469
HP:0004673	Decreased facial expression	58	ACTA1	OMIM:161800
HP:0004673	Decreased facial expression	58	ACTA1	OMIM:620278
HP:0004673	Decreased facial expression	6535	SLC6A8	ORPHA:52503
HP:0004673	Decreased facial expression	7084	TK2	ORPHA:254886
HP:0004673	Decreased facial expression	5428	POLG	ORPHA:254886
HP:0004673	Decreased facial expression	5621	PRNP	ORPHA:157941
HP:0004673	Decreased facial expression	51506	UFC1	OMIM:618076
HP:0004673	Decreased facial expression	79152	FA2H	ORPHA:171629
HP:0004673	Decreased facial expression	5610	EIF2AK2	OMIM:618877
HP:0004673	Decreased facial expression	22954	TRIM32	ORPHA:1878
HP:0004673	Decreased facial expression	29954	POMT2	OMIM:236670
HP:0004673	Decreased facial expression	79147	FKRP	OMIM:236670
HP:0004673	Decreased facial expression	10585	POMT1	OMIM:236670
HP:0004673	Decreased facial expression	9215	LARGE1	OMIM:236670
HP:0004673	Decreased facial expression	7054	TH	OMIM:605407
HP:0004673	Decreased facial expression	5980	REV3L	ORPHA:570
HP:0004673	Decreased facial expression	23129	PLXND1	ORPHA:570
HP:0004673	Decreased facial expression	4621	MYH3	OMIM:193700
HP:0004673	Decreased facial expression	5080	PAX6	ORPHA:1065
HP:0004673	Decreased facial expression	3708	ITPR1	ORPHA:1065
HP:0004673	Decreased facial expression	6575	SLC20A2	OMIM:213600
HP:0004673	Decreased facial expression	5159	PDGFRB	OMIM:213600
HP:0004673	Decreased facial expression	5155	PDGFB	OMIM:213600
HP:0004673	Decreased facial expression	3339	HSPG2	OMIM:255800
HP:0004673	Decreased facial expression	3339	HSPG2	ORPHA:800
HP:0004673	Decreased facial expression	23400	ATP13A2	OMIM:606693
HP:0004673	Decreased facial expression	538	ATP7A	ORPHA:565
HP:0004673	Decreased facial expression	2332	FMR1	OMIM:300623
HP:0004673	Decreased facial expression	54101	RIPK4	OMIM:263650
HP:0004673	Decreased facial expression	80025	PANK2	ORPHA:216866
HP:0004673	Decreased facial expression	523	ATP6V1A	OMIM:617403
HP:0004673	Decreased facial expression	4287	ATXN3	OMIM:168600
HP:0004673	Decreased facial expression	2629	GBA1	OMIM:168600
HP:0004673	Decreased facial expression	126	ADH1C	OMIM:168600
HP:0004673	Decreased facial expression	4137	MAPT	OMIM:168600
HP:0004673	Decreased facial expression	4576	MT-TT	OMIM:168600
HP:0004673	Decreased facial expression	9627	SNCAIP	OMIM:168600
HP:0004673	Decreased facial expression	6908	TBP	OMIM:168600
HP:0004673	Decreased facial expression	4929	NR4A2	OMIM:168600
HP:0004673	Decreased facial expression	6311	ATXN2	OMIM:168600
HP:0004673	Decreased facial expression	6315	ATXN8OS	OMIM:168600
HP:0004673	Decreased facial expression	1639	DCTN1	OMIM:168605
HP:0004673	Decreased facial expression	291	SLC25A4	ORPHA:254892
HP:0004673	Decreased facial expression	56652	TWNK	ORPHA:254892
HP:0004673	Decreased facial expression	11232	POLG2	ORPHA:254892
HP:0004673	Decreased facial expression	50484	RRM2B	ORPHA:254892
HP:0004673	Decreased facial expression	2512	FTL	OMIM:606159
HP:0004673	Decreased facial expression	2512	FTL	ORPHA:157846
HP:0004673	Decreased facial expression	8398	PLA2G6	ORPHA:199351
HP:0004673	Decreased facial expression	8398	PLA2G6	OMIM:612953
HP:0004673	Decreased facial expression	9895	TECPR2	ORPHA:320385
HP:0004673	Decreased facial expression	9895	TECPR2	OMIM:615031
HP:0004673	Decreased facial expression	6571	SLC18A2	OMIM:618049
HP:0004673	Decreased facial expression	6571	SLC18A2	ORPHA:352649
HP:0004673	Decreased facial expression	8506	CNTNAP1	OMIM:618186
HP:0004673	Decreased facial expression	23516	SLC39A14	OMIM:617013
HP:0004673	Decreased facial expression	23516	SLC39A14	ORPHA:521406
HP:0004673	Decreased facial expression	23259	DDHD2	OMIM:615033
HP:0004673	Decreased facial expression	55532	SLC30A10	ORPHA:309854
HP:0004673	Decreased facial expression	58494	JAM2	OMIM:618824
HP:0004673	Decreased facial expression	1213	CLTC	OMIM:617854
HP:0004673	Decreased facial expression	6531	SLC6A3	OMIM:613135
HP:0004673	Decreased facial expression	6531	SLC6A3	ORPHA:238455
HP:0004673	Decreased facial expression	23317	DNAJC13	ORPHA:411602
HP:0004673	Decreased facial expression	1981	EIF4G1	ORPHA:411602
HP:0004673	Decreased facial expression	55737	VPS35	ORPHA:411602
HP:0004673	Decreased facial expression	120892	LRRK2	ORPHA:411602
HP:0004673	Decreased facial expression	26058	GIGYF2	ORPHA:411602
HP:0004673	Decreased facial expression	6622	SNCA	ORPHA:411602
HP:0004673	Decreased facial expression	6622	SNCA	ORPHA:171695
HP:0004673	Decreased facial expression	6697	SPR	ORPHA:70594
HP:0004673	Decreased facial expression	478	ATP1A3	OMIM:128235
HP:0004673	Decreased facial expression	478	ATP1A3	ORPHA:71517
HP:0004673	Decreased facial expression	10907	TXNL4A	OMIM:608572
HP:0004673	Decreased facial expression	9829	DNAJC6	ORPHA:391411
HP:0004673	Decreased facial expression	9829	DNAJC6	OMIM:615528
HP:0004673	Decreased facial expression	5420	PODXL	ORPHA:391411
HP:0004673	Decreased facial expression	8867	SYNJ1	ORPHA:391411
HP:0004673	Decreased facial expression	85300	ATCAY	OMIM:601238
HP:0004673	Decreased facial expression	10935	PRDX3	OMIM:619862
HP:0004673	Decreased facial expression	101929726	MYMX	OMIM:619941
HP:0004673	Decreased facial expression	25793	FBXO7	ORPHA:171695
HP:0004673	Decreased facial expression	25793	FBXO7	OMIM:260300
HP:0004673	Decreased facial expression	51305	KCNK9	ORPHA:166108
HP:0004673	Decreased facial expression	55753	OGDHL	OMIM:619701
HP:0004673	Decreased facial expression	9373	PLAA	OMIM:617527
HP:0004673	Decreased facial expression	54862	CC2D1A	OMIM:608443
HP:0004673	Decreased facial expression	253738	EBF3	OMIM:617330
HP:0004673	Decreased facial expression	23312	DMXL2	OMIM:618663
HP:0004673	Decreased facial expression	30000	TNPO2	OMIM:619556
HP:0004673	Decreased facial expression	29925	GMPPB	OMIM:615351
HP:0004673	Decreased facial expression	79912	PYROXD1	OMIM:617258
HP:0004673	Decreased facial expression	8818	DPM2	ORPHA:329178
HP:0004673	Decreased facial expression	8818	DPM2	OMIM:615042
HP:0004673	Decreased facial expression	3211	HOXB1	OMIM:614744
HP:0004673	Decreased facial expression	7138	TNNT1	OMIM:620389
HP:0004673	Decreased facial expression	4703	NEB	OMIM:256030
HP:0004673	Decreased facial expression	4703	NEB	ORPHA:171433
HP:0004673	Decreased facial expression	246329	STAC3	ORPHA:168572
HP:0004673	Decreased facial expression	246329	STAC3	OMIM:255995
HP:0004673	Decreased facial expression	5293	PIK3CD	ORPHA:221139
HP:0004673	Decreased facial expression	90417	KNSTRN	ORPHA:221139
HP:0004673	Decreased facial expression	10324	KLHL41	ORPHA:171433
HP:0004673	Decreased facial expression	7170	TPM3	ORPHA:171433
HP:0004673	Decreased facial expression	7170	TPM3	ORPHA:2020
HP:0004673	Decreased facial expression	6536	SLC6A9	OMIM:617301
HP:0004673	Decreased facial expression	84340	GFM2	OMIM:618397
HP:0004673	Decreased facial expression	84340	GFM2	ORPHA:565624
HP:0004673	Decreased facial expression	6901	TAFAZZIN	OMIM:302060
HP:0004673	Decreased facial expression	51244	CCDC174	OMIM:616816
HP:0004673	Decreased facial expression	3908	LAMA2	ORPHA:258
HP:0004673	Decreased facial expression	3756	KCNH1	ORPHA:420561
HP:0004673	Decreased facial expression	3756	KCNH1	OMIM:611816
HP:0004673	Decreased facial expression	84679	SLC9A7	OMIM:301024
HP:0004673	Decreased facial expression	51651	PTRH2	OMIM:616263
HP:0004673	Decreased facial expression	6843	VAMP1	OMIM:618323
HP:0004673	Decreased facial expression	55154	MSTO1	OMIM:617675
HP:0004673	Decreased facial expression	6261	RYR1	OMIM:255320
HP:0004673	Decreased facial expression	6261	RYR1	ORPHA:98905
HP:0004673	Decreased facial expression	6261	RYR1	ORPHA:324581
HP:0004673	Decreased facial expression	6261	RYR1	ORPHA:424107
HP:0004673	Decreased facial expression	6261	RYR1	OMIM:619542
HP:0004673	Decreased facial expression	7169	TPM2	OMIM:609285
HP:0004673	Decreased facial expression	7169	TPM2	ORPHA:2020
HP:0004673	Decreased facial expression	2733	GLE1	OMIM:611890
HP:0004673	Decreased facial expression	64919	BCL11B	OMIM:617237
HP:0004673	Decreased facial expression	64919	BCL11B	OMIM:618092
HP:0004673	Decreased facial expression	7317	UBA1	ORPHA:1145
HP:0004673	Decreased facial expression	7317	UBA1	OMIM:301830
HP:0004673	Decreased facial expression	55681	SCYL2	ORPHA:1143
HP:0004673	Decreased facial expression	84570	COL25A1	ORPHA:1143
HP:0004673	Decreased facial expression	57222	ERGIC1	ORPHA:1143
HP:0004673	Decreased facial expression	93627	TBCK	OMIM:616900
HP:0004673	Decreased facial expression	4625	MYH7	OMIM:255160
HP:0004673	Decreased facial expression	29967	LRP12	OMIM:164310
HP:0004673	Decreased facial expression	29967	LRP12	ORPHA:98897
HP:0004673	Decreased facial expression	9570	GOSR2	OMIM:620166
HP:0004673	Decreased facial expression	57731	SPTBN4	OMIM:617519
HP:0004673	Decreased facial expression	4620	MYH2	OMIM:605637
HP:0004673	Decreased facial expression	6567	SLC16A2	ORPHA:59
HP:0004673	Decreased facial expression	10087	CERT1	OMIM:616351
HP:0004673	Decreased facial expression	57190	SELENON	ORPHA:2020
HP:0004673	Decreased facial expression	4633	MYL2	ORPHA:2020
HP:0004673	Decreased facial expression	3679	ITGA7	ORPHA:2020
HP:0004673	Decreased facial expression	9200	HACD1	ORPHA:2020
HP:0004673	Decreased facial expression	51776	MAP3K20	ORPHA:2020
HP:0004673	Decreased facial expression	27072	VPS41	OMIM:619389
HP:0004673	Decreased facial expression	5813	PURA	ORPHA:438216
HP:0004673	Decreased facial expression	5813	PURA	OMIM:616158
HP:0004673	Decreased facial expression	4632	MYL1	OMIM:618414
HP:0004673	Decreased facial expression	128989	TANGO2	OMIM:616878
HP:0004673	Decreased facial expression	6443	SGCB	ORPHA:119
HP:0004673	Decreased facial expression	113278	SLC52A3	OMIM:211530
HP:0004673	Decreased facial expression	78987	CRELD1	OMIM:620771
HP:0004673	Decreased facial expression	353116	RILPL1	ORPHA:98897
HP:0004673	Decreased facial expression	10755	GIPC1	ORPHA:98897
HP:0004673	Decreased facial expression	100996717	NOTCH2NLC	ORPHA:98897
HP:0004673	Decreased facial expression	388015	RTL1	ORPHA:254531
HP:0004673	Decreased facial expression	8788	DLK1	ORPHA:254531
HP:0004673	Decreased facial expression	55384	MEG3	ORPHA:254531
HP:0004673	Decreased facial expression	1763	DNA2	ORPHA:352470
HP:0004673	Decreased facial expression	1763	DNA2	OMIM:615156
HP:0004673	Decreased facial expression	63895	PIEZO2	OMIM:108145
HP:0004673	Decreased facial expression	22947	DUX4L1	ORPHA:269
HP:0004673	Decreased facial expression	1789	DNMT3B	ORPHA:269
HP:0004673	Decreased facial expression	2483	FRG1	ORPHA:269
HP:0004673	Decreased facial expression	23347	SMCHD1	ORPHA:269
HP:0004673	Decreased facial expression	100288687	DUX4	ORPHA:269
HP:0004673	Decreased facial expression	5277	PIGA	OMIM:300868
HP:0004673	Decreased facial expression	80816	ASXL3	ORPHA:352577
HP:0004673	Decreased facial expression	3119	HLA-DQB1	OMIM:123400
HP:0000341	Narrow forehead	1718	DHCR24	OMIM:602398
HP:0000341	Narrow forehead	8243	SMC1A	OMIM:300590
HP:0000341	Narrow forehead	8243	SMC1A	OMIM:301044
HP:0000341	Narrow forehead	8036	SHOC2	OMIM:607721
HP:0000341	Narrow forehead	6309	SC5D	ORPHA:46059
HP:0000341	Narrow forehead	6309	SC5D	OMIM:607330
HP:0000341	Narrow forehead	340533	NEXMIF	OMIM:300912
HP:0000341	Narrow forehead	51399	TRAPPC4	OMIM:618741
HP:0000341	Narrow forehead	8294	H4C9	OMIM:619951
HP:0000341	Narrow forehead	8216	LZTR1	OMIM:616564
HP:0000341	Narrow forehead	8216	LZTR1	OMIM:605275
HP:0000341	Narrow forehead	51126	NAA20	OMIM:619717
HP:0000341	Narrow forehead	673	BRAF	OMIM:115150
HP:0000341	Narrow forehead	673	BRAF	OMIM:613707
HP:0000341	Narrow forehead	673	BRAF	OMIM:613706
HP:0000341	Narrow forehead	55627	SMPD4	OMIM:618622
HP:0000341	Narrow forehead	57539	WDR35	OMIM:613610
HP:0000341	Narrow forehead	7360	UGP2	OMIM:618744
HP:0000341	Narrow forehead	4897	NRCAM	OMIM:619833
HP:0000341	Narrow forehead	781	CACNA2D1	OMIM:620149
HP:0000341	Narrow forehead	5932	RBBP8	OMIM:606744
HP:0000341	Narrow forehead	3020	H3-3A	OMIM:619720
HP:0000341	Narrow forehead	51741	WWOX	OMIM:616211
HP:0000341	Narrow forehead	1841	DTYMK	OMIM:619847
HP:0000341	Narrow forehead	84520	GON7	OMIM:619603
HP:0000341	Narrow forehead	23431	AP4E1	OMIM:613744
HP:0000341	Narrow forehead	23431	AP4E1	ORPHA:280763
HP:0000341	Narrow forehead	10978	CLP1	OMIM:615803
HP:0000341	Narrow forehead	79158	GNPTAB	OMIM:252500
HP:0000341	Narrow forehead	26153	KIF26A	OMIM:620156
HP:0000341	Narrow forehead	271	AMPD2	OMIM:615809
HP:0000341	Narrow forehead	4001	LMNB1	OMIM:619179
HP:0000341	Narrow forehead	3190	HNRNPK	OMIM:616580
HP:0000341	Narrow forehead	818	CAMK2G	OMIM:618522
HP:0000341	Narrow forehead	9698	PUM1	OMIM:620719
HP:0000341	Narrow forehead	9698	PUM1	OMIM:617931
HP:0000341	Narrow forehead	79029	AFG2B	OMIM:619616
HP:0000341	Narrow forehead	816	CAMK2B	OMIM:617799
HP:0000341	Narrow forehead	7994	KAT6A	ORPHA:457193
HP:0000341	Narrow forehead	7994	KAT6A	OMIM:616268
HP:0000341	Narrow forehead	93627	TBCK	OMIM:616900
HP:0000341	Narrow forehead	2260	FGFR1	ORPHA:3366
HP:0000341	Narrow forehead	158326	FREM1	ORPHA:3366
HP:0000341	Narrow forehead	1717	DHCR7	OMIM:270400
HP:0000341	Narrow forehead	4763	NF1	ORPHA:363700
HP:0000341	Narrow forehead	4330	MN1	OMIM:618774
HP:0000341	Narrow forehead	1656	DDX6	OMIM:618653
HP:0000341	Narrow forehead	4212	MEIS2	OMIM:600987
HP:0000341	Narrow forehead	4212	MEIS2	ORPHA:261190
HP:0000341	Narrow forehead	5528	PPP2R5D	OMIM:616355
HP:0000341	Narrow forehead	833	CARS1	OMIM:618891
HP:0000341	Narrow forehead	8550	MAPKAPK5	OMIM:619869
HP:0000341	Narrow forehead	55012	PPP2R3C	OMIM:618419
HP:0000341	Narrow forehead	2783	GNB2	OMIM:619503
HP:0000341	Narrow forehead	200734	SPRED2	OMIM:619745
HP:0000341	Narrow forehead	11193	WBP4	OMIM:620852
HP:0000341	Narrow forehead	6602	SMARCD1	OMIM:618779
HP:0000341	Narrow forehead	8642	DCHS1	OMIM:601390
HP:0000341	Narrow forehead	26834	RNU4-2	OMIM:620851
HP:0000341	Narrow forehead	54084	TSPEAR	OMIM:620173
HP:0000341	Narrow forehead	9653	HS2ST1	OMIM:619194
HP:0000341	Narrow forehead	10717	AP4B1	OMIM:614066
HP:0000341	Narrow forehead	10717	AP4B1	ORPHA:280763
HP:0000341	Narrow forehead	51604	PIGT	OMIM:615398
HP:0000341	Narrow forehead	51604	PIGT	ORPHA:369837
HP:0000341	Narrow forehead	23126	POGZ	OMIM:616364
HP:0000341	Narrow forehead	56006	SMG9	OMIM:616920
HP:0000341	Narrow forehead	8239	USP9X	ORPHA:480880
HP:0000341	Narrow forehead	8239	USP9X	OMIM:300968
HP:0000341	Narrow forehead	54499	TMCO1	OMIM:213980
HP:0000341	Narrow forehead	8379	MAD1L1	OMIM:620189
HP:0000341	Narrow forehead	1859	DYRK1A	ORPHA:464311
HP:0000341	Narrow forehead	1859	DYRK1A	OMIM:614104
HP:0000341	Narrow forehead	84992	PIGY	OMIM:616809
HP:0000341	Narrow forehead	51611	DPH5	OMIM:620070
HP:0000341	Narrow forehead	5605	MAP2K2	OMIM:615280
HP:0000341	Narrow forehead	6558	SLC12A2	OMIM:619080
HP:0000341	Narrow forehead	8733	GPAA1	ORPHA:529665
HP:0000341	Narrow forehead	8733	GPAA1	OMIM:617810
HP:0000341	Narrow forehead	5594	MAPK1	OMIM:619087
HP:0000341	Narrow forehead	163175	LGI4	OMIM:617468
HP:0000341	Narrow forehead	6925	TCF4	OMIM:610954
HP:0000341	Narrow forehead	6925	TCF4	ORPHA:2896
HP:0000341	Narrow forehead	2006	ELN	OMIM:194050
HP:0000341	Narrow forehead	51085	MLXIPL	OMIM:194050
HP:0000341	Narrow forehead	55691	FRMD4A	OMIM:616819
HP:0000341	Narrow forehead	55691	FRMD4A	ORPHA:466688
HP:0000341	Narrow forehead	57724	EPG5	OMIM:242840
HP:0000341	Narrow forehead	23556	PIGN	OMIM:614080
HP:0000341	Narrow forehead	546	ATRX	OMIM:309580
HP:0000341	Narrow forehead	26047	CNTNAP2	OMIM:610042
HP:0000341	Narrow forehead	55275	VPS53	OMIM:615851
HP:0000341	Narrow forehead	25836	NIPBL	OMIM:122470
HP:0000341	Narrow forehead	6261	RYR1	ORPHA:324581
HP:0000341	Narrow forehead	3954	LETM1	OMIM:620089
HP:0000341	Narrow forehead	85440	DOCK7	OMIM:615859
HP:0000341	Narrow forehead	85440	DOCK7	ORPHA:411986
HP:0000341	Narrow forehead	92154	MTSS2	OMIM:620086
HP:0000341	Narrow forehead	7546	ZIC2	OMIM:609637
HP:0000341	Narrow forehead	171023	ASXL1	OMIM:605039
HP:0000341	Narrow forehead	10159	ATP6AP2	OMIM:300423
HP:0000341	Narrow forehead	9742	IFT140	OMIM:266920
HP:0000341	Narrow forehead	10664	CTCF	OMIM:615502
HP:0000341	Narrow forehead	10664	CTCF	ORPHA:363611
HP:0000341	Narrow forehead	78987	CRELD1	OMIM:620771
HP:0000341	Narrow forehead	8260	NAA10	ORPHA:276432
HP:0000341	Narrow forehead	5813	PURA	ORPHA:314655
HP:0000341	Narrow forehead	9488	PIGB	OMIM:618580
HP:0000341	Narrow forehead	84706	GPT2	OMIM:616281
HP:0000341	Narrow forehead	84706	GPT2	ORPHA:477673
HP:0000341	Narrow forehead	91949	COG7	OMIM:608779
HP:0000341	Narrow forehead	23013	SPEN	OMIM:619312
HP:0000341	Narrow forehead	30000	TNPO2	OMIM:619556
HP:0000341	Narrow forehead	57122	NUP107	OMIM:618348
HP:0000341	Narrow forehead	57122	NUP107	OMIM:616730
HP:0000341	Narrow forehead	55746	NUP133	OMIM:618349
HP:0000341	Narrow forehead	53616	ADAM22	OMIM:617933
HP:0000341	Narrow forehead	253738	EBF3	ORPHA:96148
HP:0000341	Narrow forehead	90459	ERI1	OMIM:620663
HP:0000341	Narrow forehead	90459	ERI1	OMIM:620662
HP:0000341	Narrow forehead	100033413	SNORD116-1	OMIM:176270
HP:0000341	Narrow forehead	8924	HERC2	OMIM:176270
HP:0000341	Narrow forehead	23742	NPAP1	OMIM:176270
HP:0000341	Narrow forehead	338433	SNORD115-1	OMIM:176270
HP:0000341	Narrow forehead	54551	MAGEL2	OMIM:176270
HP:0000341	Narrow forehead	54551	MAGEL2	OMIM:615547
HP:0000341	Narrow forehead	7681	MKRN3	OMIM:176270
HP:0000341	Narrow forehead	145624	PWAR1	OMIM:176270
HP:0000341	Narrow forehead	3653	IPW	OMIM:176270
HP:0000341	Narrow forehead	791114	PWRN1	OMIM:176270
HP:0000341	Narrow forehead	3981	LIG4	OMIM:606593
HP:0000341	Narrow forehead	128869	PIGU	OMIM:618590
HP:0000341	Narrow forehead	27125	AFF4	ORPHA:444077
HP:0000341	Narrow forehead	5575	PRKAR1B	OMIM:619680
HP:0000341	Narrow forehead	7707	ZNF148	OMIM:617260
HP:0000341	Narrow forehead	57465	TBC1D24	OMIM:220500
HP:0000341	Narrow forehead	6567	SLC16A2	OMIM:300523
HP:0000341	Narrow forehead	29998	BICRA	OMIM:619325
HP:0000341	Narrow forehead	6651	SON	OMIM:617140
HP:0000341	Narrow forehead	6651	SON	ORPHA:500150
HP:0000341	Narrow forehead	388015	RTL1	ORPHA:254528
HP:0000341	Narrow forehead	8788	DLK1	ORPHA:254528
HP:0000341	Narrow forehead	55384	MEG3	ORPHA:254528
HP:0000341	Narrow forehead	5649	RELN	ORPHA:89844
HP:0000341	Narrow forehead	10300	KATNB1	ORPHA:89844
HP:0000341	Narrow forehead	54820	NDE1	ORPHA:89844
HP:0000341	Narrow forehead	5859	QARS1	OMIM:615760
HP:0000341	Narrow forehead	23030	KDM4B	OMIM:619320
HP:0000341	Narrow forehead	6492	SIM1	ORPHA:171829
HP:0000341	Narrow forehead	998	CDC42	OMIM:616737
HP:0000341	Narrow forehead	998	CDC42	ORPHA:487796
HP:0000341	Narrow forehead	8312	AXIN1	OMIM:620558
HP:0000341	Narrow forehead	9179	AP4M1	OMIM:612936
HP:0000341	Narrow forehead	9179	AP4M1	ORPHA:280763
HP:0000341	Narrow forehead	9126	SMC3	OMIM:610759
HP:0000341	Narrow forehead	90161	HS6ST2	OMIM:301025
HP:0000341	Narrow forehead	22930	RAB3GAP1	OMIM:600118
HP:0000341	Narrow forehead	2530	FUT8	OMIM:618005
HP:0000341	Narrow forehead	23511	NUP188	OMIM:618804
HP:0000341	Narrow forehead	91137	SLC25A46	OMIM:616505
HP:0000341	Narrow forehead	29920	PYCR2	ORPHA:481152
HP:0000341	Narrow forehead	29920	PYCR2	OMIM:616420
HP:0000341	Narrow forehead	51608	GET4	OMIM:620200
HP:0000341	Narrow forehead	23389	MED13L	ORPHA:369891
HP:0000341	Narrow forehead	23389	MED13L	OMIM:616789
HP:0000341	Narrow forehead	1009	CDH11	OMIM:211380
HP:0000341	Narrow forehead	6821	SUOX	OMIM:272300
HP:0000341	Narrow forehead	22827	PUF60	ORPHA:508488
HP:0000341	Narrow forehead	22827	PUF60	OMIM:615583
HP:0000341	Narrow forehead	6792	CDKL5	ORPHA:505652
HP:0000341	Narrow forehead	11342	RNF13	OMIM:618379
HP:0000341	Narrow forehead	11342	RNF13	ORPHA:544503
HP:0000341	Narrow forehead	1822	ATN1	OMIM:618494
HP:0000341	Narrow forehead	25	ABL1	OMIM:617602
HP:0000341	Narrow forehead	51305	KCNK9	ORPHA:166108
HP:0000341	Narrow forehead	51305	KCNK9	OMIM:612292
HP:0000341	Narrow forehead	83696	TRAPPC9	ORPHA:352530
HP:0000341	Narrow forehead	5332	PLCB4	OMIM:620458
HP:0000341	Narrow forehead	79633	FAT4	OMIM:615546
HP:0000341	Narrow forehead	5723	PSPH	ORPHA:79350
HP:0000341	Narrow forehead	6638	SNRPN	ORPHA:177907
HP:0000341	Narrow forehead	55644	OSGEP	OMIM:617729
HP:0000341	Narrow forehead	26040	SETBP1	ORPHA:798
HP:0000341	Narrow forehead	50801	KCNK4	OMIM:618381
HP:0000341	Narrow forehead	57003	CCDC47	OMIM:618268
HP:0000341	Narrow forehead	8270	LAGE3	OMIM:301006
HP:0000341	Narrow forehead	348180	CTU2	OMIM:618142
HP:0000341	Narrow forehead	6711	SPTBN1	OMIM:619475
HP:0000341	Narrow forehead	80232	WDR26	OMIM:617616
HP:0000341	Narrow forehead	8405	SPOP	OMIM:618828
HP:0000341	Narrow forehead	80781	COL18A1	OMIM:267750
HP:0000341	Narrow forehead	2077	ERF	OMIM:617180
HP:0000341	Narrow forehead	8567	MADD	OMIM:619004
HP:0000341	Narrow forehead	51124	IER3IP1	OMIM:614231
HP:0000341	Narrow forehead	9326	ZNHIT3	OMIM:260565
HP:0000341	Narrow forehead	55704	CCDC88A	OMIM:617507
HP:0000341	Narrow forehead	5500	PPP1CB	OMIM:617506
HP:0000341	Narrow forehead	57038	RARS2	OMIM:611523
HP:0000341	Narrow forehead	54676	GTPBP2	OMIM:617988
HP:0000341	Narrow forehead	118924	FRA10AC1	OMIM:620113
HP:0000341	Narrow forehead	93587	TRMT10A	ORPHA:391408
HP:0000341	Narrow forehead	84919	PPP1R15B	ORPHA:391408
HP:0000341	Narrow forehead	1759	DNM1	OMIM:620352
HP:0000341	Narrow forehead	139285	AMER1	OMIM:300373
HP:0000341	Narrow forehead	259266	ASPM	OMIM:608716
HP:0000341	Narrow forehead	11154	AP4S1	ORPHA:280763
HP:0000341	Narrow forehead	6904	TBCD	OMIM:617193
HP:0000341	Narrow forehead	650	BMP2	OMIM:617877
HP:0000341	Narrow forehead	1663	DDX11	OMIM:613398
HP:0000341	Narrow forehead	51594	NBAS	OMIM:614800
HP:0000341	Narrow forehead	84700	MYO18B	OMIM:616549
HP:0000341	Narrow forehead	2801	GOLGA2	OMIM:620240
HP:0000341	Narrow forehead	129285	PPP1R21	OMIM:619383
HP:0000341	Narrow forehead	55553	SOX6	OMIM:618971
HP:0000341	Narrow forehead	7543	ZFX	OMIM:301118
HP:0000341	Narrow forehead	10844	TUBGCP2	OMIM:618737
HP:0000341	Narrow forehead	4654	MYOD1	OMIM:618975
HP:0000341	Narrow forehead	9373	PLAA	OMIM:617527
HP:0000341	Narrow forehead	871	SERPINH1	OMIM:613848
HP:0000341	Narrow forehead	9990	SLC12A6	OMIM:218000
HP:0000341	Narrow forehead	90952	ESAM	OMIM:620371
HP:0004676	Prominent supraorbital arches in adult	5745	PTH1R	OMIM:156400
HP:0010101	Partial duplication of the phalanges of the hallux	124583	CANT1	OMIM:251450
HP:0010101	Partial duplication of the phalanges of the hallux	4750	NEK1	OMIM:252100
HP:0004679	Large tarsal bones	1302	COL11A2	OMIM:215150
HP:0030791	Abnormal jaw morphology	7169	TPM2	OMIM:108120
HP:0030791	Abnormal jaw morphology	4626	MYH8	OMIM:158300
HP:0030791	Abnormal jaw morphology	4626	MYH8	OMIM:608837
HP:0030791	Abnormal jaw morphology	10262	SF3B4	OMIM:154400
HP:0030791	Abnormal jaw morphology	1280	COL2A1	OMIM:616583
HP:0030791	Abnormal jaw morphology	3977	LIFR	ORPHA:3206
HP:0030791	Abnormal jaw morphology	3747	KCNC2	OMIM:619913
HP:0030791	Abnormal jaw morphology	1909	EDNRA	OMIM:616367
HP:0030791	Abnormal jaw morphology	3339	HSPG2	ORPHA:800
HP:0030791	Abnormal jaw morphology	2629	GBA1	OMIM:230900
HP:0030791	Abnormal jaw morphology	2629	GBA1	ORPHA:77260
HP:0030791	Abnormal jaw morphology	81570	CLPB	OMIM:616271
HP:0030791	Abnormal jaw morphology	9244	CRLF1	OMIM:272430
HP:0030791	Abnormal jaw morphology	389827	MYMK	OMIM:254940
HP:0030791	Abnormal jaw morphology	112476	PRRT2	ORPHA:98810
HP:0030791	Abnormal jaw morphology	25953	PNKD	ORPHA:98810
HP:0030791	Abnormal jaw morphology	6452	SH3BP2	ORPHA:184
HP:0030791	Abnormal jaw morphology	5295	PIK3R1	ORPHA:3163
HP:0030791	Abnormal jaw morphology	4853	NOTCH2	ORPHA:955
HP:0030791	Abnormal jaw morphology	3476	IGBP1	OMIM:300472
HP:0030791	Abnormal jaw morphology	3476	IGBP1	ORPHA:52055
HP:0030791	Abnormal jaw morphology	2294	FOXF1	OMIM:265380
HP:0030791	Abnormal jaw morphology	2077	ERF	OMIM:600775
HP:0030791	Abnormal jaw morphology	8367	H4C5	OMIM:619950
HP:0030791	Abnormal jaw morphology	10046	MAMLD1	ORPHA:456328
HP:0030791	Abnormal jaw morphology	4534	MTM1	ORPHA:456328
HP:0030791	Abnormal jaw morphology	8506	CNTNAP1	OMIM:618186
HP:0030791	Abnormal jaw morphology	8425	LTBP4	OMIM:613177
HP:0030791	Abnormal jaw morphology	10054	UBA2	OMIM:619959
HP:0030791	Abnormal jaw morphology	57539	WDR35	OMIM:613610
HP:0030791	Abnormal jaw morphology	81857	MED25	OMIM:616449
HP:0030791	Abnormal jaw morphology	81857	MED25	ORPHA:464738
HP:0030791	Abnormal jaw morphology	347734	SLC35B2	OMIM:620269
HP:0030791	Abnormal jaw morphology	65267	WNK3	OMIM:309610
HP:0030791	Abnormal jaw morphology	54968	TMEM70	ORPHA:1194
HP:0030791	Abnormal jaw morphology	80816	ASXL3	OMIM:615485
HP:0030791	Abnormal jaw morphology	6536	SLC6A9	OMIM:617301
HP:0030791	Abnormal jaw morphology	318	NUDT2	OMIM:619844
HP:0030791	Abnormal jaw morphology	129563	DIS3L2	ORPHA:2849
HP:0030791	Abnormal jaw morphology	24142	NAA80	OMIM:620830
HP:0030791	Abnormal jaw morphology	9915	ARNT2	OMIM:615926
HP:0030791	Abnormal jaw morphology	29072	SETD2	OMIM:620157
HP:0030791	Abnormal jaw morphology	29072	SETD2	OMIM:620155
HP:0030791	Abnormal jaw morphology	26153	KIF26A	OMIM:620156
HP:0030791	Abnormal jaw morphology	25778	DSTYK	OMIM:270750
HP:0030791	Abnormal jaw morphology	3190	HNRNPK	OMIM:616580
HP:0030791	Abnormal jaw morphology	57492	ARID1B	OMIM:135900
HP:0030791	Abnormal jaw morphology	25885	POLR1A	OMIM:616462
HP:0030791	Abnormal jaw morphology	80204	FBXO11	OMIM:618089
HP:0030791	Abnormal jaw morphology	83871	RAB34	OMIM:620718
HP:0030791	Abnormal jaw morphology	23184	MESD	OMIM:618644
HP:0030791	Abnormal jaw morphology	51319	RSRC1	OMIM:618402
HP:0030791	Abnormal jaw morphology	79184	BRCC3	ORPHA:280679
HP:0030791	Abnormal jaw morphology	7841	MOGS	OMIM:606056
HP:0030791	Abnormal jaw morphology	7841	MOGS	ORPHA:79330
HP:0030791	Abnormal jaw morphology	171023	ASXL1	ORPHA:97297
HP:0030791	Abnormal jaw morphology	171023	ASXL1	OMIM:605039
HP:0030791	Abnormal jaw morphology	652	BMP4	OMIM:607932
HP:0030791	Abnormal jaw morphology	8726	EED	OMIM:617561
HP:0030791	Abnormal jaw morphology	26053	AUTS2	ORPHA:352490
HP:0030791	Abnormal jaw morphology	84314	TMEM107	OMIM:617563
HP:0030791	Abnormal jaw morphology	56992	KIF15	OMIM:619981
HP:0030791	Abnormal jaw morphology	8550	MAPKAPK5	OMIM:619869
HP:0030791	Abnormal jaw morphology	1954	MEGF8	OMIM:614976
HP:0030791	Abnormal jaw morphology	11193	WBP4	OMIM:620852
HP:0030791	Abnormal jaw morphology	89910	UBE3B	ORPHA:2707
HP:0030791	Abnormal jaw morphology	1906	EDN1	OMIM:615706
HP:0030791	Abnormal jaw morphology	26834	RNU4-2	OMIM:620851
HP:0030791	Abnormal jaw morphology	4247	MGAT2	OMIM:212066
HP:0030791	Abnormal jaw morphology	54496	PRMT7	ORPHA:464288
HP:0030791	Abnormal jaw morphology	54496	PRMT7	OMIM:617157
HP:0030791	Abnormal jaw morphology	2200	FBN1	OMIM:616914
HP:0030791	Abnormal jaw morphology	2200	FBN1	ORPHA:2462
HP:0030791	Abnormal jaw morphology	2200	FBN1	OMIM:154700
HP:0030791	Abnormal jaw morphology	2200	FBN1	ORPHA:91387
HP:0030791	Abnormal jaw morphology	23265	EXOC7	OMIM:619072
HP:0030791	Abnormal jaw morphology	9653	HS2ST1	OMIM:619194
HP:0030791	Abnormal jaw morphology	92482	BBIP1	ORPHA:110
HP:0030791	Abnormal jaw morphology	80184	CEP290	ORPHA:110
HP:0030791	Abnormal jaw morphology	11020	IFT27	ORPHA:110
HP:0030791	Abnormal jaw morphology	582	BBS1	ORPHA:110
HP:0030791	Abnormal jaw morphology	49855	SCAPER	ORPHA:110
HP:0030791	Abnormal jaw morphology	4867	NPHP1	ORPHA:110
HP:0030791	Abnormal jaw morphology	51057	WDPCP	ORPHA:110
HP:0030791	Abnormal jaw morphology	132320	SCLT1	ORPHA:110
HP:0030791	Abnormal jaw morphology	27241	BBS9	ORPHA:110
HP:0030791	Abnormal jaw morphology	84984	CEP19	ORPHA:110
HP:0030791	Abnormal jaw morphology	22954	TRIM32	ORPHA:110
HP:0030791	Abnormal jaw morphology	54903	MKS1	ORPHA:110
HP:0030791	Abnormal jaw morphology	79738	BBS10	ORPHA:110
HP:0030791	Abnormal jaw morphology	123016	TTC8	ORPHA:110
HP:0030791	Abnormal jaw morphology	26160	IFT172	ORPHA:110
HP:0030791	Abnormal jaw morphology	583	BBS2	ORPHA:110
HP:0030791	Abnormal jaw morphology	585	BBS4	ORPHA:110
HP:0030791	Abnormal jaw morphology	8195	MKKS	ORPHA:110
HP:0030791	Abnormal jaw morphology	54585	LZTFL1	ORPHA:110
HP:0030791	Abnormal jaw morphology	55212	BBS7	ORPHA:110
HP:0030791	Abnormal jaw morphology	166379	BBS12	ORPHA:110
HP:0030791	Abnormal jaw morphology	10806	SDCCAG8	ORPHA:110
HP:0030791	Abnormal jaw morphology	157657	CFAP418	ORPHA:110
HP:0030791	Abnormal jaw morphology	84100	ARL6	ORPHA:110
HP:0030791	Abnormal jaw morphology	129880	BBS5	ORPHA:110
HP:0030791	Abnormal jaw morphology	80173	IFT74	ORPHA:110
HP:0030791	Abnormal jaw morphology	23126	POGZ	OMIM:616364
HP:0030791	Abnormal jaw morphology	57680	CHD8	OMIM:615032
HP:0030791	Abnormal jaw morphology	51633	OTUD6B	OMIM:617452
HP:0030791	Abnormal jaw morphology	51633	OTUD6B	ORPHA:505237
HP:0030791	Abnormal jaw morphology	1857	DVL3	ORPHA:3107
HP:0030791	Abnormal jaw morphology	7474	WNT5A	ORPHA:3107
HP:0030791	Abnormal jaw morphology	7474	WNT5A	OMIM:180700
HP:0030791	Abnormal jaw morphology	1855	DVL1	ORPHA:3107
HP:0030791	Abnormal jaw morphology	1855	DVL1	OMIM:180700
HP:0030791	Abnormal jaw morphology	2535	FZD2	ORPHA:3107
HP:0030791	Abnormal jaw morphology	4613	MYCN	OMIM:620748
HP:0030791	Abnormal jaw morphology	6125	RPL5	OMIM:612561
HP:0030791	Abnormal jaw morphology	3481	IGF2	OMIM:616489
HP:0030791	Abnormal jaw morphology	9508	ADAMTS3	ORPHA:2136
HP:0030791	Abnormal jaw morphology	147372	CCBE1	ORPHA:2136
HP:0030791	Abnormal jaw morphology	147372	CCBE1	OMIM:235510
HP:0030791	Abnormal jaw morphology	79633	FAT4	ORPHA:2136
HP:0030791	Abnormal jaw morphology	1660	DHX9	OMIM:620988
HP:0030791	Abnormal jaw morphology	57282	SLC4A10	OMIM:620746
HP:0030791	Abnormal jaw morphology	9841	ZBTB24	OMIM:614069
HP:0030791	Abnormal jaw morphology	79770	TXNDC15	OMIM:619879
HP:0030791	Abnormal jaw morphology	8364	H4C3	OMIM:619758
HP:0030791	Abnormal jaw morphology	10290	SPEG	OMIM:615959
HP:0030791	Abnormal jaw morphology	10290	SPEG	ORPHA:169186
HP:0030791	Abnormal jaw morphology	58	ACTA1	OMIM:161800
HP:0030791	Abnormal jaw morphology	2138	EYA1	ORPHA:107
HP:0030791	Abnormal jaw morphology	2138	EYA1	OMIM:602588
HP:0030791	Abnormal jaw morphology	147912	SIX5	ORPHA:107
HP:0030791	Abnormal jaw morphology	6495	SIX1	ORPHA:107
HP:0030791	Abnormal jaw morphology	79228	THOC6	ORPHA:363444
HP:0030791	Abnormal jaw morphology	5159	PDGFRB	OMIM:601812
HP:0030791	Abnormal jaw morphology	27086	FOXP1	ORPHA:391372
HP:0030791	Abnormal jaw morphology	27086	FOXP1	OMIM:613670
HP:0030791	Abnormal jaw morphology	53335	BCL11A	OMIM:617101
HP:0030791	Abnormal jaw morphology	4784	NFIX	OMIM:614753
HP:0030791	Abnormal jaw morphology	4784	NFIX	OMIM:602535
HP:0030791	Abnormal jaw morphology	4784	NFIX	ORPHA:561
HP:0030791	Abnormal jaw morphology	163175	LGI4	OMIM:617468
HP:0030791	Abnormal jaw morphology	7025	NR2F1	OMIM:615722
HP:0030791	Abnormal jaw morphology	54487	DGCR8	OMIM:192430
HP:0030791	Abnormal jaw morphology	6899	TBX1	OMIM:192430
HP:0030791	Abnormal jaw morphology	8214	DGCR6	OMIM:192430
HP:0030791	Abnormal jaw morphology	8220	ESS2	OMIM:192430
HP:0030791	Abnormal jaw morphology	9993	DGCR2	OMIM:192430
HP:0030791	Abnormal jaw morphology	5422	POLA1	ORPHA:163976
HP:0030791	Abnormal jaw morphology	5422	POLA1	OMIM:301030
HP:0030791	Abnormal jaw morphology	51163	DBR1	OMIM:620510
HP:0030791	Abnormal jaw morphology	388015	RTL1	ORPHA:96334
HP:0030791	Abnormal jaw morphology	388015	RTL1	ORPHA:254528
HP:0030791	Abnormal jaw morphology	8788	DLK1	ORPHA:96334
HP:0030791	Abnormal jaw morphology	8788	DLK1	ORPHA:254528
HP:0030791	Abnormal jaw morphology	55384	MEG3	ORPHA:96334
HP:0030791	Abnormal jaw morphology	55384	MEG3	ORPHA:254528
HP:0030791	Abnormal jaw morphology	91949	COG7	ORPHA:79333
HP:0030791	Abnormal jaw morphology	91949	COG7	OMIM:608779
HP:0030791	Abnormal jaw morphology	10667	FARS2	ORPHA:466722
HP:0030791	Abnormal jaw morphology	11128	POLR3A	ORPHA:3455
HP:0030791	Abnormal jaw morphology	23065	EMC1	ORPHA:480898
HP:0030791	Abnormal jaw morphology	23065	EMC1	OMIM:616875
HP:0030791	Abnormal jaw morphology	56975	FAM20C	ORPHA:1832
HP:0030791	Abnormal jaw morphology	2556	GABRA3	OMIM:301091
HP:0030791	Abnormal jaw morphology	3187	HNRNPH1	OMIM:620083
HP:0030791	Abnormal jaw morphology	3930	LBR	OMIM:215140
HP:0030791	Abnormal jaw morphology	4920	ROR2	OMIM:268310
HP:0030791	Abnormal jaw morphology	5373	PMM2	ORPHA:79318
HP:0030791	Abnormal jaw morphology	4677	NARS1	OMIM:619092
HP:0030791	Abnormal jaw morphology	8573	CASK	ORPHA:163937
HP:0030791	Abnormal jaw morphology	57479	PRR12	OMIM:619539
HP:0030791	Abnormal jaw morphology	729920	CRPPA	OMIM:614643
HP:0030791	Abnormal jaw morphology	4088	SMAD3	OMIM:613795
HP:0030791	Abnormal jaw morphology	4088	SMAD3	ORPHA:284984
HP:0030791	Abnormal jaw morphology	4088	SMAD3	ORPHA:91387
HP:0030791	Abnormal jaw morphology	2146	EZH2	OMIM:277590
HP:0030791	Abnormal jaw morphology	2146	EZH2	ORPHA:3447
HP:0030791	Abnormal jaw morphology	55835	CPAP	OMIM:613676
HP:0030791	Abnormal jaw morphology	7048	TGFBR2	OMIM:610168
HP:0030791	Abnormal jaw morphology	7048	TGFBR2	ORPHA:91387
HP:0030791	Abnormal jaw morphology	85459	CEP295	OMIM:620767
HP:0030791	Abnormal jaw morphology	404672	GTF2H5	ORPHA:33364
HP:0030791	Abnormal jaw morphology	833	CARS1	ORPHA:33364
HP:0030791	Abnormal jaw morphology	2068	ERCC2	ORPHA:33364
HP:0030791	Abnormal jaw morphology	2068	ERCC2	OMIM:601675
HP:0030791	Abnormal jaw morphology	7737	RNF113A	ORPHA:33364
HP:0030791	Abnormal jaw morphology	136647	MPLKIP	ORPHA:33364
HP:0030791	Abnormal jaw morphology	136647	MPLKIP	OMIM:234050
HP:0030791	Abnormal jaw morphology	6897	TARS1	ORPHA:33364
HP:0030791	Abnormal jaw morphology	16	AARS1	ORPHA:33364
HP:0030791	Abnormal jaw morphology	16	AARS1	OMIM:619691
HP:0030791	Abnormal jaw morphology	2071	ERCC3	ORPHA:33364
HP:0030791	Abnormal jaw morphology	2961	GTF2E2	ORPHA:33364
HP:0030791	Abnormal jaw morphology	79791	FBXO31	OMIM:615979
HP:0030791	Abnormal jaw morphology	1487	CTBP1	OMIM:617915
HP:0030791	Abnormal jaw morphology	64324	NSD1	ORPHA:3447
HP:0030791	Abnormal jaw morphology	23512	SUZ12	ORPHA:3447
HP:0030791	Abnormal jaw morphology	641	BLM	ORPHA:125
HP:0030791	Abnormal jaw morphology	10533	ATG7	OMIM:619422
HP:0030791	Abnormal jaw morphology	2033	EP300	OMIM:613684
HP:0030791	Abnormal jaw morphology	2033	EP300	OMIM:180849
HP:0030791	Abnormal jaw morphology	867	CBL	OMIM:613563
HP:0030791	Abnormal jaw morphology	7046	TGFBR1	OMIM:609192
HP:0030791	Abnormal jaw morphology	7046	TGFBR1	ORPHA:91387
HP:0030791	Abnormal jaw morphology	11338	U2AF2	OMIM:620535
HP:0030791	Abnormal jaw morphology	51013	EXOSC1	OMIM:619304
HP:0030791	Abnormal jaw morphology	1642	DDB1	OMIM:619426
HP:0030791	Abnormal jaw morphology	6497	SKI	ORPHA:2462
HP:0030791	Abnormal jaw morphology	5908	RAP1B	OMIM:620654
HP:0030791	Abnormal jaw morphology	63895	PIEZO2	ORPHA:2461
HP:0030791	Abnormal jaw morphology	5910	RAP1GDS1	OMIM:620655
HP:0030791	Abnormal jaw morphology	196528	ARID2	OMIM:617808
HP:0030791	Abnormal jaw morphology	27152	INTU	OMIM:617926
HP:0030791	Abnormal jaw morphology	3720	JARID2	OMIM:620098
HP:0030791	Abnormal jaw morphology	274	BIN1	ORPHA:169186
HP:0030791	Abnormal jaw morphology	6261	RYR1	ORPHA:169186
HP:0030791	Abnormal jaw morphology	7273	TTN	ORPHA:169186
HP:0030791	Abnormal jaw morphology	8243	SMC1A	OMIM:301044
HP:0030791	Abnormal jaw morphology	1281	COL3A1	OMIM:618343
HP:0030791	Abnormal jaw morphology	10466	COG5	ORPHA:263487
HP:0030791	Abnormal jaw morphology	23013	SPEN	OMIM:619312
HP:0030791	Abnormal jaw morphology	30000	TNPO2	OMIM:619556
HP:0030791	Abnormal jaw morphology	1859	DYRK1A	ORPHA:268261
HP:0030791	Abnormal jaw morphology	54517	PUS7	OMIM:618342
HP:0030791	Abnormal jaw morphology	1305	COL13A1	OMIM:616720
HP:0030791	Abnormal jaw morphology	54973	INTS11	OMIM:620428
HP:0030791	Abnormal jaw morphology	11133	KPTN	OMIM:615637
HP:0030791	Abnormal jaw morphology	79650	USB1	OMIM:604173
HP:0030791	Abnormal jaw morphology	55593	OTUD5	OMIM:301056
HP:0030791	Abnormal jaw morphology	56945	MRPS22	OMIM:611719
HP:0030791	Abnormal jaw morphology	55315	SLC29A3	OMIM:602782
HP:0030791	Abnormal jaw morphology	55869	HDAC8	OMIM:300882
HP:0030791	Abnormal jaw morphology	6492	SIM1	ORPHA:171829
HP:0030791	Abnormal jaw morphology	23291	FBXW11	OMIM:618914
HP:0030791	Abnormal jaw morphology	9662	CEP135	OMIM:614673
HP:0030791	Abnormal jaw morphology	4953	ODC1	ORPHA:544488
HP:0030791	Abnormal jaw morphology	30008	EFEMP2	OMIM:614437
HP:0030791	Abnormal jaw morphology	5915	RARB	OMIM:615524
HP:0030791	Abnormal jaw morphology	9126	SMC3	OMIM:610759
HP:0030791	Abnormal jaw morphology	2187	FANCB	ORPHA:3412
HP:0030791	Abnormal jaw morphology	5932	RBBP8	OMIM:251255
HP:0030791	Abnormal jaw morphology	79068	FTO	OMIM:612938
HP:0030791	Abnormal jaw morphology	3417	IDH1	ORPHA:99646
HP:0030791	Abnormal jaw morphology	55777	MBD5	OMIM:156200
HP:0030791	Abnormal jaw morphology	3039	HBA1	ORPHA:98791
HP:0030791	Abnormal jaw morphology	3040	HBA2	ORPHA:98791
HP:0030791	Abnormal jaw morphology	56915	EXOSC5	OMIM:619576
HP:0030791	Abnormal jaw morphology	2530	FUT8	OMIM:618005
HP:0030791	Abnormal jaw morphology	55906	ZC4H2	OMIM:314580
HP:0030791	Abnormal jaw morphology	166378	AFG2A	ORPHA:457351
HP:0030791	Abnormal jaw morphology	23511	NUP188	OMIM:618804
HP:0030791	Abnormal jaw morphology	4000	LMNA	OMIM:212112
HP:0030791	Abnormal jaw morphology	4000	LMNA	ORPHA:740
HP:0030791	Abnormal jaw morphology	9719	ADAMTSL2	ORPHA:1901
HP:0030791	Abnormal jaw morphology	9509	ADAMTS2	ORPHA:1901
HP:0030791	Abnormal jaw morphology	81620	CDT1	ORPHA:2554
HP:0030791	Abnormal jaw morphology	5000	ORC4	ORPHA:2554
HP:0030791	Abnormal jaw morphology	23594	ORC6	ORPHA:2554
HP:0030791	Abnormal jaw morphology	8318	CDC45	ORPHA:2554
HP:0030791	Abnormal jaw morphology	990	CDC6	ORPHA:2554
HP:0030791	Abnormal jaw morphology	4998	ORC1	ORPHA:2554
HP:0030791	Abnormal jaw morphology	51053	GMNN	ORPHA:2554
HP:0030791	Abnormal jaw morphology	91647	ATPAF2	OMIM:604273
HP:0030791	Abnormal jaw morphology	54539	NDUFB11	ORPHA:2556
HP:0030791	Abnormal jaw morphology	1349	COX7B	ORPHA:2556
HP:0030791	Abnormal jaw morphology	3052	HCCS	ORPHA:2556
HP:0030791	Abnormal jaw morphology	2304	FOXE1	ORPHA:1226
HP:0030791	Abnormal jaw morphology	444	ASPH	OMIM:601552
HP:0030791	Abnormal jaw morphology	10943	MSL3	OMIM:301032
HP:0030791	Abnormal jaw morphology	372	ARCN1	OMIM:617164
HP:0030791	Abnormal jaw morphology	9758	FRMPD4	OMIM:300983
HP:0030791	Abnormal jaw morphology	79796	ALG9	OMIM:263210
HP:0030791	Abnormal jaw morphology	57511	COG6	OMIM:614576
HP:0030791	Abnormal jaw morphology	51729	WBP11	OMIM:619227
HP:0030791	Abnormal jaw morphology	5116	PCNT	OMIM:210720
HP:0030791	Abnormal jaw morphology	5116	PCNT	ORPHA:2637
HP:0030791	Abnormal jaw morphology	54551	MAGEL2	OMIM:615547
HP:0030791	Abnormal jaw morphology	139285	AMER1	ORPHA:2780
HP:0030791	Abnormal jaw morphology	6638	SNRPN	ORPHA:177907
HP:0030791	Abnormal jaw morphology	26040	SETBP1	ORPHA:798
HP:0030791	Abnormal jaw morphology	6874	TAF4	OMIM:620450
HP:0030791	Abnormal jaw morphology	760	CA2	ORPHA:2785
HP:0030791	Abnormal jaw morphology	60	ACTB	OMIM:243310
HP:0030791	Abnormal jaw morphology	60	ACTB	ORPHA:2995
HP:0030791	Abnormal jaw morphology	9321	TRIP11	ORPHA:166272
HP:0030791	Abnormal jaw morphology	8943	AP3D1	OMIM:617050
HP:0030791	Abnormal jaw morphology	50814	NSDHL	OMIM:300831
HP:0030791	Abnormal jaw morphology	71	ACTG1	OMIM:614583
HP:0030791	Abnormal jaw morphology	71	ACTG1	ORPHA:2995
HP:0030791	Abnormal jaw morphology	57061	HYMAI	ORPHA:96191
HP:0030791	Abnormal jaw morphology	5325	PLAGL1	ORPHA:96191
HP:0030791	Abnormal jaw morphology	10526	IPO8	OMIM:619472
HP:0030791	Abnormal jaw morphology	29895	MYL11	OMIM:619110
HP:0030791	Abnormal jaw morphology	348180	CTU2	OMIM:618142
HP:0030791	Abnormal jaw morphology	10847	SRCAP	OMIM:619595
HP:0030791	Abnormal jaw morphology	340419	RSPO2	OMIM:618022
HP:0030791	Abnormal jaw morphology	29927	SEC61A1	OMIM:617056
HP:0030791	Abnormal jaw morphology	5530	PPP3CA	OMIM:618265
HP:0030791	Abnormal jaw morphology	1387	CREBBP	OMIM:180849
HP:0030791	Abnormal jaw morphology	29957	SLC25A24	OMIM:612289
HP:0030791	Abnormal jaw morphology	79005	SCNM1	OMIM:620107
HP:0030791	Abnormal jaw morphology	54796	BNC2	ORPHA:93110
HP:0030791	Abnormal jaw morphology	25914	RTTN	ORPHA:468631
HP:0030791	Abnormal jaw morphology	10269	ZMPSTE24	ORPHA:740
HP:0030791	Abnormal jaw morphology	84172	POLR1B	ORPHA:861
HP:0030791	Abnormal jaw morphology	9533	POLR1C	ORPHA:861
HP:0030791	Abnormal jaw morphology	51082	POLR1D	ORPHA:861
HP:0030791	Abnormal jaw morphology	51082	POLR1D	OMIM:613717
HP:0030791	Abnormal jaw morphology	6949	TCOF1	ORPHA:861
HP:0030791	Abnormal jaw morphology	4927	NUP88	OMIM:618393
HP:0030791	Abnormal jaw morphology	7204	TRIO	OMIM:617061
HP:0030791	Abnormal jaw morphology	1718	DHCR24	ORPHA:35107
HP:0030791	Abnormal jaw morphology	2222	FDFT1	OMIM:618156
HP:0030791	Abnormal jaw morphology	8567	MADD	OMIM:619004
HP:0030791	Abnormal jaw morphology	374879	ZNF699	OMIM:619488
HP:0030791	Abnormal jaw morphology	440138	ALG11	ORPHA:280071
HP:0030791	Abnormal jaw morphology	9326	ZNHIT3	OMIM:260565
HP:0030791	Abnormal jaw morphology	1806	DPYD	ORPHA:1675
HP:0030791	Abnormal jaw morphology	55704	CCDC88A	OMIM:617507
HP:0030791	Abnormal jaw morphology	64093	SMOC1	OMIM:206920
HP:0030791	Abnormal jaw morphology	55717	WDR11	OMIM:620237
HP:0030791	Abnormal jaw morphology	118924	FRA10AC1	OMIM:620113
HP:0030791	Abnormal jaw morphology	6519	SLC3A1	ORPHA:163690
HP:0030791	Abnormal jaw morphology	9581	PREPL	ORPHA:163690
HP:0030791	Abnormal jaw morphology	22995	CEP152	OMIM:613823
HP:0030791	Abnormal jaw morphology	2273	FHL1	OMIM:300280
HP:0030791	Abnormal jaw morphology	55252	ASXL2	OMIM:617190
HP:0030791	Abnormal jaw morphology	80267	EDEM3	OMIM:619493
HP:0030791	Abnormal jaw morphology	342035	GLDN	OMIM:617194
HP:0030791	Abnormal jaw morphology	200205	IBA57	OMIM:615330
HP:0030791	Abnormal jaw morphology	2733	GLE1	OMIM:611890
HP:0030791	Abnormal jaw morphology	100151683	RNU4ATAC	ORPHA:2636
HP:0030791	Abnormal jaw morphology	5718	PSMD12	OMIM:617516
HP:0030791	Abnormal jaw morphology	3295	HSD17B4	OMIM:261515
HP:0030791	Abnormal jaw morphology	6329	SCN4A	OMIM:620369
HP:0030791	Abnormal jaw morphology	9757	KMT2B	OMIM:619934
HP:0030791	Abnormal jaw morphology	4683	NBN	ORPHA:647
HP:0030791	Abnormal jaw morphology	23522	KAT6B	ORPHA:3047
HP:0030791	Abnormal jaw morphology	26123	TCTN3	ORPHA:2753
HP:0030791	Abnormal jaw morphology	26123	TCTN3	OMIM:614815
HP:0030791	Abnormal jaw morphology	5286	PIK3C2A	ORPHA:557003
HP:0030791	Abnormal jaw morphology	6223	RPS19	OMIM:105650
HP:0030791	Abnormal jaw morphology	29071	C1GALT1C1	OMIM:301110
HP:0030791	Abnormal jaw morphology	84842	HPDL	OMIM:619026
HP:0030791	Abnormal jaw morphology	8516	ITGA8	OMIM:191830
HP:0030791	Abnormal jaw morphology	375056	MIA3	OMIM:619269
HP:0030791	Abnormal jaw morphology	18	ABAT	OMIM:613163
HP:0030791	Abnormal jaw morphology	7043	TGFB3	OMIM:615582
HP:0030791	Abnormal jaw morphology	7043	TGFB3	ORPHA:91387
HP:0030791	Abnormal jaw morphology	22827	PUF60	OMIM:615583
HP:0030791	Abnormal jaw morphology	7543	ZFX	OMIM:301118
HP:0030791	Abnormal jaw morphology	523	ATP6V1A	OMIM:617403
HP:0030791	Abnormal jaw morphology	25871	NEPRO	OMIM:618853
HP:0030791	Abnormal jaw morphology	219844	HYLS1	ORPHA:2189
HP:0030791	Abnormal jaw morphology	374654	KIF7	ORPHA:2189
HP:0030791	Abnormal jaw morphology	7042	TGFB2	OMIM:614816
HP:0030791	Abnormal jaw morphology	7042	TGFB2	ORPHA:91387
HP:0030791	Abnormal jaw morphology	3480	IGF1R	OMIM:270450
HP:0030791	Abnormal jaw morphology	4629	MYH11	ORPHA:91387
HP:0030791	Abnormal jaw morphology	4015	LOX	ORPHA:91387
HP:0030791	Abnormal jaw morphology	4087	SMAD2	ORPHA:91387
HP:0030791	Abnormal jaw morphology	4089	SMAD4	ORPHA:91387
HP:0030791	Abnormal jaw morphology	59	ACTA2	ORPHA:91387
HP:0030791	Abnormal jaw morphology	5592	PRKG1	ORPHA:91387
HP:0030791	Abnormal jaw morphology	2301	FOXE3	ORPHA:91387
HP:0030791	Abnormal jaw morphology	4144	MAT2A	ORPHA:91387
HP:0030791	Abnormal jaw morphology	23493	HEY2	ORPHA:91387
HP:0030791	Abnormal jaw morphology	8076	MFAP5	ORPHA:91387
HP:0030791	Abnormal jaw morphology	4638	MYLK	ORPHA:91387
HP:0030791	Abnormal jaw morphology	79875	THSD4	ORPHA:91387
HP:0030791	Abnormal jaw morphology	2006	ELN	ORPHA:91387
HP:0030791	Abnormal jaw morphology	1278	COL1A2	ORPHA:1899
HP:0030791	Abnormal jaw morphology	1277	COL1A1	ORPHA:1899
HP:0030791	Abnormal jaw morphology	283450	HECTD4	OMIM:620250
HP:0030791	Abnormal jaw morphology	8085	KMT2D	OMIM:147920
HP:0030791	Abnormal jaw morphology	7403	KDM6A	OMIM:147920
HP:0030791	Abnormal jaw morphology	50964	SOST	OMIM:269500
HP:0030791	Abnormal jaw morphology	50964	SOST	ORPHA:3416
HP:0030791	Abnormal jaw morphology	50964	SOST	OMIM:122860
HP:0030791	Abnormal jaw morphology	5573	PRKAR1A	ORPHA:950
HP:0030791	Abnormal jaw morphology	5573	PRKAR1A	OMIM:101800
HP:0030791	Abnormal jaw morphology	5144	PDE4D	ORPHA:950
HP:0030791	Abnormal jaw morphology	5144	PDE4D	OMIM:614613
HP:0030791	Abnormal jaw morphology	5144	PDE4D	ORPHA:439822
HP:0030791	Abnormal jaw morphology	199857	ALG14	OMIM:619031
HP:0030791	Abnormal jaw morphology	8450	CUL4B	OMIM:300354
HP:0030791	Abnormal jaw morphology	1145	CHRNE	OMIM:608931
HP:0030791	Abnormal jaw morphology	2673	GFPT1	OMIM:608931
HP:0030791	Abnormal jaw morphology	6535	SLC6A8	OMIM:300352
HP:0030791	Abnormal jaw morphology	324	APC	ORPHA:261584
HP:0030791	Abnormal jaw morphology	51256	TBC1D7	OMIM:248000
HP:0030791	Abnormal jaw morphology	340533	NEXMIF	OMIM:300912
HP:0030791	Abnormal jaw morphology	1183	CLCN4	OMIM:300114
HP:0030791	Abnormal jaw morphology	9853	RUSC2	OMIM:617773
HP:0030791	Abnormal jaw morphology	54507	ADAMTSL4	ORPHA:1885
HP:0030791	Abnormal jaw morphology	23135	KDM6B	OMIM:618505
HP:0030791	Abnormal jaw morphology	5894	RAF1	OMIM:611554
HP:0030791	Abnormal jaw morphology	5894	RAF1	OMIM:611553
HP:0030791	Abnormal jaw morphology	55627	SMPD4	OMIM:618622
HP:0030791	Abnormal jaw morphology	10973	ASCC3	OMIM:620700
HP:0030791	Abnormal jaw morphology	3703	STT3A	OMIM:619714
HP:0030791	Abnormal jaw morphology	1788	DNMT3A	ORPHA:404443
HP:0030791	Abnormal jaw morphology	1161	ERCC8	ORPHA:90321
HP:0030791	Abnormal jaw morphology	1161	ERCC8	ORPHA:90322
HP:0030791	Abnormal jaw morphology	1161	ERCC8	OMIM:216400
HP:0030791	Abnormal jaw morphology	2072	ERCC4	ORPHA:90321
HP:0030791	Abnormal jaw morphology	2074	ERCC6	ORPHA:90321
HP:0030791	Abnormal jaw morphology	2074	ERCC6	ORPHA:90322
HP:0030791	Abnormal jaw morphology	2074	ERCC6	OMIM:133540
HP:0030791	Abnormal jaw morphology	10084	PQBP1	ORPHA:93950
HP:0030791	Abnormal jaw morphology	10084	PQBP1	ORPHA:93945
HP:0030791	Abnormal jaw morphology	10084	PQBP1	OMIM:309500
HP:0030791	Abnormal jaw morphology	2067	ERCC1	ORPHA:90322
HP:0030791	Abnormal jaw morphology	9401	RECQL4	OMIM:268400
HP:0030791	Abnormal jaw morphology	6840	SVIL	OMIM:619040
HP:0030791	Abnormal jaw morphology	4125	MAN2B1	ORPHA:309282
HP:0030791	Abnormal jaw morphology	4125	MAN2B1	OMIM:248500
HP:0030791	Abnormal jaw morphology	4983	OPHN1	OMIM:300486
HP:0030791	Abnormal jaw morphology	4983	OPHN1	ORPHA:137831
HP:0030791	Abnormal jaw morphology	10479	SLC9A6	OMIM:300243
HP:0030791	Abnormal jaw morphology	9578	CDC42BPB	OMIM:619841
HP:0030791	Abnormal jaw morphology	3020	H3-3A	OMIM:619720
HP:0030791	Abnormal jaw morphology	3021	H3-3B	OMIM:619721
HP:0030791	Abnormal jaw morphology	5728	PTEN	ORPHA:2969
HP:0030791	Abnormal jaw morphology	2314	FLII	ORPHA:819
HP:0030791	Abnormal jaw morphology	23096	IQSEC2	ORPHA:819
HP:0030791	Abnormal jaw morphology	10743	RAI1	ORPHA:819
HP:0030791	Abnormal jaw morphology	10743	RAI1	OMIM:182290
HP:0030791	Abnormal jaw morphology	10522	DEAF1	ORPHA:819
HP:0030791	Abnormal jaw morphology	10522	DEAF1	OMIM:615828
HP:0030791	Abnormal jaw morphology	55650	PIGV	OMIM:239300
HP:0030791	Abnormal jaw morphology	55650	PIGV	ORPHA:247262
HP:0030791	Abnormal jaw morphology	284403	WDR62	OMIM:604317
HP:0030791	Abnormal jaw morphology	6197	RPS6KA3	OMIM:303600
HP:0030791	Abnormal jaw morphology	2263	FGFR2	ORPHA:87
HP:0030791	Abnormal jaw morphology	2263	FGFR2	ORPHA:168624
HP:0030791	Abnormal jaw morphology	2263	FGFR2	OMIM:101200
HP:0030791	Abnormal jaw morphology	2263	FGFR2	OMIM:123500
HP:0030791	Abnormal jaw morphology	2263	FGFR2	ORPHA:1540
HP:0030791	Abnormal jaw morphology	2263	FGFR2	OMIM:101600
HP:0030791	Abnormal jaw morphology	84992	PIGY	ORPHA:247262
HP:0030791	Abnormal jaw morphology	84720	PIGO	ORPHA:247262
HP:0030791	Abnormal jaw morphology	93210	PGAP3	ORPHA:247262
HP:0030791	Abnormal jaw morphology	284098	PIGW	ORPHA:247262
HP:0030791	Abnormal jaw morphology	27315	PGAP2	ORPHA:247262
HP:0030791	Abnormal jaw morphology	9487	PIGL	ORPHA:247262
HP:0030791	Abnormal jaw morphology	535	ATP6V0A1	OMIM:619971
HP:0030791	Abnormal jaw morphology	55154	MSTO1	OMIM:617675
HP:0030791	Abnormal jaw morphology	8913	CACNA1G	OMIM:618087
HP:0030791	Abnormal jaw morphology	3899	AFF3	OMIM:619297
HP:0030791	Abnormal jaw morphology	7040	TGFB1	OMIM:131300
HP:0030791	Abnormal jaw morphology	56172	ANKH	OMIM:123000
HP:0030791	Abnormal jaw morphology	93627	TBCK	OMIM:616900
HP:0030791	Abnormal jaw morphology	93627	TBCK	ORPHA:488632
HP:0030791	Abnormal jaw morphology	83550	GPR101	ORPHA:963
HP:0030791	Abnormal jaw morphology	9049	AIP	ORPHA:963
HP:0030791	Abnormal jaw morphology	9049	AIP	ORPHA:99725
HP:0030791	Abnormal jaw morphology	2697	GJA1	ORPHA:2710
HP:0030791	Abnormal jaw morphology	2697	GJA1	OMIM:218400
HP:0030791	Abnormal jaw morphology	10555	AGPAT2	OMIM:608594
HP:0030791	Abnormal jaw morphology	10555	AGPAT2	ORPHA:528
HP:0030791	Abnormal jaw morphology	1193	CLIC2	ORPHA:324410
HP:0030791	Abnormal jaw morphology	2720	GLB1	OMIM:253010
HP:0030791	Abnormal jaw morphology	3340	NDST1	OMIM:616116
HP:0030791	Abnormal jaw morphology	79813	EHMT1	OMIM:610253
HP:0030791	Abnormal jaw morphology	1009	CDH11	ORPHA:1299
HP:0030791	Abnormal jaw morphology	1009	CDH11	OMIM:211380
HP:0030791	Abnormal jaw morphology	2783	GNB2	OMIM:619503
HP:0030791	Abnormal jaw morphology	55623	THUMPD1	OMIM:619989
HP:0030791	Abnormal jaw morphology	79158	GNPTAB	OMIM:252600
HP:0030791	Abnormal jaw morphology	175	AGA	ORPHA:93
HP:0030791	Abnormal jaw morphology	3425	IDUA	OMIM:607016
HP:0030791	Abnormal jaw morphology	54345	SOX18	OMIM:137940
HP:0030791	Abnormal jaw morphology	65109	UPF3B	OMIM:300676
HP:0030791	Abnormal jaw morphology	1182	CLCN3	OMIM:619512
HP:0030791	Abnormal jaw morphology	388662	SLC6A17	ORPHA:457212
HP:0030791	Abnormal jaw morphology	388662	SLC6A17	OMIM:616269
HP:0030791	Abnormal jaw morphology	3590	IL11RA	OMIM:614188
HP:0030791	Abnormal jaw morphology	3572	IL6ST	OMIM:619750
HP:0030791	Abnormal jaw morphology	55699	IARS2	OMIM:616007
HP:0030791	Abnormal jaw morphology	2332	FMR1	ORPHA:908
HP:0030791	Abnormal jaw morphology	2332	FMR1	ORPHA:449291
HP:0030791	Abnormal jaw morphology	2332	FMR1	OMIM:300624
HP:0030791	Abnormal jaw morphology	5593	PRKG2	OMIM:619636
HP:0030791	Abnormal jaw morphology	6134	RPL10	ORPHA:459070
HP:0030791	Abnormal jaw morphology	6134	RPL10	OMIM:300998
HP:0030791	Abnormal jaw morphology	6134	RPL10	ORPHA:435938
HP:0030791	Abnormal jaw morphology	7337	UBE3A	OMIM:105830
HP:0030791	Abnormal jaw morphology	7337	UBE3A	ORPHA:98794
HP:0030791	Abnormal jaw morphology	7337	UBE3A	ORPHA:98795
HP:0030791	Abnormal jaw morphology	7337	UBE3A	ORPHA:411511
HP:0030791	Abnormal jaw morphology	7337	UBE3A	ORPHA:411515
HP:0030791	Abnormal jaw morphology	10907	TXNL4A	OMIM:608572
HP:0030791	Abnormal jaw morphology	55210	ATAD3A	ORPHA:496790
HP:0030791	Abnormal jaw morphology	55210	ATAD3A	OMIM:617183
HP:0030791	Abnormal jaw morphology	6558	SLC12A2	OMIM:619080
HP:0030791	Abnormal jaw morphology	56098	PCDHGC4	OMIM:619880
HP:0030791	Abnormal jaw morphology	4849	CNOT3	OMIM:618672
HP:0030791	Abnormal jaw morphology	6901	TAFAZZIN	OMIM:302060
HP:0030791	Abnormal jaw morphology	4221	MEN1	ORPHA:99725
HP:0030791	Abnormal jaw morphology	55343	SLC35C1	ORPHA:99843
HP:0030791	Abnormal jaw morphology	5727	PTCH1	ORPHA:377
HP:0030791	Abnormal jaw morphology	5727	PTCH1	OMIM:109400
HP:0030791	Abnormal jaw morphology	8643	PTCH2	ORPHA:377
HP:0030791	Abnormal jaw morphology	51684	SUFU	ORPHA:377
HP:0030791	Abnormal jaw morphology	2239	GPC4	ORPHA:373
HP:0030791	Abnormal jaw morphology	2239	GPC4	OMIM:312870
HP:0030791	Abnormal jaw morphology	2719	GPC3	ORPHA:373
HP:0030791	Abnormal jaw morphology	2719	GPC3	OMIM:312870
HP:0030791	Abnormal jaw morphology	8242	KDM5C	OMIM:300534
HP:0030791	Abnormal jaw morphology	7355	SLC35A2	OMIM:300896
HP:0030791	Abnormal jaw morphology	54941	RNF125	OMIM:616260
HP:0030791	Abnormal jaw morphology	5077	PAX3	OMIM:193500
HP:0030791	Abnormal jaw morphology	5077	PAX3	OMIM:148820
HP:0030791	Abnormal jaw morphology	5077	PAX3	ORPHA:894
HP:0030791	Abnormal jaw morphology	26047	CNTNAP2	OMIM:610042
HP:0030791	Abnormal jaw morphology	10735	STAG2	ORPHA:521258
HP:0030791	Abnormal jaw morphology	2260	FGFR1	OMIM:166250
HP:0030791	Abnormal jaw morphology	2260	FGFR1	OMIM:101600
HP:0030791	Abnormal jaw morphology	7994	KAT6A	OMIM:616268
HP:0030791	Abnormal jaw morphology	6611	SMS	OMIM:309583
HP:0030791	Abnormal jaw morphology	6611	SMS	ORPHA:3063
HP:0030791	Abnormal jaw morphology	5781	PTPN11	OMIM:151100
HP:0030791	Abnormal jaw morphology	2703	GJA8	OMIM:612474
HP:0030791	Abnormal jaw morphology	2702	GJA5	OMIM:612474
HP:0030791	Abnormal jaw morphology	22907	DHX30	OMIM:617804
HP:0030791	Abnormal jaw morphology	10664	CTCF	OMIM:615502
HP:0030791	Abnormal jaw morphology	8905	AP1S2	OMIM:304340
HP:0030791	Abnormal jaw morphology	78987	CRELD1	OMIM:620771
HP:0030791	Abnormal jaw morphology	8600	TNFSF11	OMIM:259710
HP:0030791	Abnormal jaw morphology	57190	SELENON	ORPHA:324604
HP:0030791	Abnormal jaw morphology	4625	MYH7	ORPHA:324604
HP:0030791	Abnormal jaw morphology	8925	HERC1	OMIM:617011
HP:0030791	Abnormal jaw morphology	8925	HERC1	ORPHA:457359
HP:0030791	Abnormal jaw morphology	4038	LRP4	OMIM:614305
HP:0030791	Abnormal jaw morphology	8924	HERC2	OMIM:615516
HP:0030791	Abnormal jaw morphology	84320	ACBD6	OMIM:620785
HP:0030791	Abnormal jaw morphology	546	ATRX	OMIM:301040
HP:0030791	Abnormal jaw morphology	4054	LTBP3	OMIM:601216
HP:0030791	Abnormal jaw morphology	4041	LRP5	ORPHA:3416
HP:0030791	Abnormal jaw morphology	4041	LRP5	ORPHA:2790
HP:0030791	Abnormal jaw morphology	83479	DDX59	OMIM:174300
HP:0030791	Abnormal jaw morphology	176	ACAN	OMIM:612813
HP:0030791	Abnormal jaw morphology	176	ACAN	OMIM:165800
HP:0030791	Abnormal jaw morphology	176	ACAN	ORPHA:171866
HP:0030791	Abnormal jaw morphology	4952	OCRL	ORPHA:534
HP:0030791	Abnormal jaw morphology	9179	AP4M1	OMIM:612936
HP:0030791	Abnormal jaw morphology	54808	DYM	OMIM:223800
HP:0030791	Abnormal jaw morphology	90161	HS6ST2	OMIM:301025
HP:0030791	Abnormal jaw morphology	4948	OCA2	ORPHA:98794
HP:0030791	Abnormal jaw morphology	4621	MYH3	OMIM:193700
HP:0030791	Abnormal jaw morphology	84068	SLC10A7	OMIM:618363
HP:0030791	Abnormal jaw morphology	3756	KCNH1	OMIM:135500
HP:0030791	Abnormal jaw morphology	6774	STAT3	ORPHA:2314
HP:0030791	Abnormal jaw morphology	7965	AIMP2	OMIM:618006
HP:0030791	Abnormal jaw morphology	201163	FLCN	OMIM:610883
HP:0030791	Abnormal jaw morphology	9820	CUL7	OMIM:273750
HP:0030791	Abnormal jaw morphology	92344	GORAB	OMIM:231070
HP:0030791	Abnormal jaw morphology	92344	GORAB	ORPHA:2078
HP:0030791	Abnormal jaw morphology	11145	PLAAT3	OMIM:620683
HP:0030791	Abnormal jaw morphology	23389	MED13L	ORPHA:369891
HP:0030791	Abnormal jaw morphology	7136	TNNI2	OMIM:601680
HP:0030791	Abnormal jaw morphology	7703	PCGF2	OMIM:618371
HP:0030791	Abnormal jaw morphology	10524	KAT5	OMIM:619103
HP:0030791	Abnormal jaw morphology	54681	P4HTM	OMIM:618493
HP:0030791	Abnormal jaw morphology	10297	APC2	OMIM:617169
HP:0030791	Abnormal jaw morphology	92949	ADAMTSL1	ORPHA:521445
HP:0030791	Abnormal jaw morphology	6023	RMRP	OMIM:607095
HP:0030791	Abnormal jaw morphology	860	RUNX2	ORPHA:1452
HP:0030791	Abnormal jaw morphology	64864	RFX7	OMIM:620330
HP:0030791	Abnormal jaw morphology	9791	PTDSS1	OMIM:151050
HP:0030791	Abnormal jaw morphology	9791	PTDSS1	ORPHA:2658
HP:0030791	Abnormal jaw morphology	3643	INSR	OMIM:262190
HP:0030791	Abnormal jaw morphology	3643	INSR	ORPHA:769
HP:0030791	Abnormal jaw morphology	2290	FOXG1	ORPHA:261144
HP:0030791	Abnormal jaw morphology	6424	SFRP4	OMIM:265900
HP:0030791	Abnormal jaw morphology	2892	GRIA3	ORPHA:364028
HP:0030791	Abnormal jaw morphology	26580	BSCL2	OMIM:269700
HP:0030791	Abnormal jaw morphology	26580	BSCL2	ORPHA:528
HP:0030791	Abnormal jaw morphology	2588	GALNS	OMIM:253000
HP:0030791	Abnormal jaw morphology	117581	TWIST2	OMIM:209885
HP:0030791	Abnormal jaw morphology	51002	TPRKB	OMIM:617731
HP:0030791	Abnormal jaw morphology	285590	SH3PXD2B	ORPHA:137834
HP:0030791	Abnormal jaw morphology	4810	NHS	ORPHA:627
HP:0030791	Abnormal jaw morphology	6928	HNF1B	ORPHA:93111
HP:0030791	Abnormal jaw morphology	4796	TONSL	ORPHA:93357
HP:0030791	Abnormal jaw morphology	4796	TONSL	OMIM:271510
HP:0030791	Abnormal jaw morphology	63932	STEEP1	OMIM:301013
HP:0030791	Abnormal jaw morphology	284252	KCTD1	OMIM:181270
HP:0030791	Abnormal jaw morphology	2893	GRIA4	OMIM:617864
HP:0030791	Abnormal jaw morphology	8292	COLQ	ORPHA:98915
HP:0030791	Abnormal jaw morphology	3913	LAMB2	ORPHA:98915
HP:0030791	Abnormal jaw morphology	4094	MAF	OMIM:601088
HP:0030791	Abnormal jaw morphology	5831	PYCR1	ORPHA:2078
HP:0030791	Abnormal jaw morphology	84081	NSRP1	OMIM:620001
HP:0030791	Abnormal jaw morphology	5468	PPARG	ORPHA:528
HP:0030791	Abnormal jaw morphology	284119	CAVIN1	ORPHA:528
HP:0030791	Abnormal jaw morphology	2353	FOS	ORPHA:528
HP:0030791	Abnormal jaw morphology	857	CAV1	ORPHA:528
HP:0030791	Abnormal jaw morphology	1795	DOCK3	OMIM:618292
HP:0030791	Abnormal jaw morphology	11141	IL1RAPL1	OMIM:300143
HP:0030791	Abnormal jaw morphology	3832	KIF11	OMIM:152950
HP:0030791	Abnormal jaw morphology	83452	RAB33B	OMIM:615222
HP:0030791	Abnormal jaw morphology	5567	PRKACB	OMIM:619143
HP:0030791	Abnormal jaw morphology	529	ATP6V1E1	OMIM:617402
HP:0030791	Abnormal jaw morphology	1460	CSNK2B	OMIM:618732
HP:0030791	Abnormal jaw morphology	4654	MYOD1	OMIM:618975
HP:0030791	Abnormal jaw morphology	84168	ANTXR1	ORPHA:2067
HP:0030791	Abnormal jaw morphology	57194	ATP10A	ORPHA:411515
HP:0030791	Abnormal jaw morphology	25886	POC1A	OMIM:614813
HP:0030791	Abnormal jaw morphology	9898	UBAP2L	OMIM:620494
HP:0030791	Abnormal jaw morphology	90952	ESAM	OMIM:620371
HP:0030791	Abnormal jaw morphology	2737	GLI3	ORPHA:672
HP:0030791	Abnormal jaw morphology	286053	NSMCE2	OMIM:617253
HP:0030791	Abnormal jaw morphology	9871	SEC24D	OMIM:616294
HP:0030791	Abnormal jaw morphology	79868	ALG13	OMIM:300884
HP:0030791	Abnormal jaw morphology	5649	RELN	ORPHA:89844
HP:0030791	Abnormal jaw morphology	10300	KATNB1	ORPHA:89844
HP:0030791	Abnormal jaw morphology	54820	NDE1	ORPHA:89844
HP:0030791	Abnormal jaw morphology	55790	CSGALNACT1	OMIM:618870
HP:0030791	Abnormal jaw morphology	26224	FBXL3	OMIM:606220
HP:0030791	Abnormal jaw morphology	8260	NAA10	OMIM:300855
HP:0030791	Abnormal jaw morphology	8260	NAA10	ORPHA:276432
HP:0030791	Abnormal jaw morphology	113189	CHST14	ORPHA:2953
HP:0030791	Abnormal jaw morphology	113189	CHST14	OMIM:601776
HP:0030791	Abnormal jaw morphology	29940	DSE	ORPHA:2953
HP:0030791	Abnormal jaw morphology	9692	PRORP	OMIM:619737
HP:0030791	Abnormal jaw morphology	90993	CREB3L1	OMIM:616229
HP:0030791	Abnormal jaw morphology	9325	TRIP4	OMIM:616866
HP:0030791	Abnormal jaw morphology	1717	DHCR7	OMIM:270400
HP:0030791	Abnormal jaw morphology	1501	CTNND2	ORPHA:281
HP:0030791	Abnormal jaw morphology	9037	SEMA5A	ORPHA:281
HP:0030791	Abnormal jaw morphology	23327	NEDD4L	OMIM:617201
HP:0030791	Abnormal jaw morphology	23545	ATP6V0A2	OMIM:278250
HP:0030791	Abnormal jaw morphology	9419	CRIPT	OMIM:615789
HP:0030791	Abnormal jaw morphology	26005	C2CD3	OMIM:615948
HP:0030791	Abnormal jaw morphology	26005	C2CD3	ORPHA:434179
HP:0030791	Abnormal jaw morphology	59336	PRDM13	OMIM:619909
HP:0030791	Abnormal jaw morphology	9997	SCO2	OMIM:604377
HP:0030791	Abnormal jaw morphology	23443	SLC35A3	OMIM:615553
HP:0030791	Abnormal jaw morphology	9894	TELO2	ORPHA:488642
HP:0030791	Abnormal jaw morphology	55165	CEP55	OMIM:236500
HP:0030791	Abnormal jaw morphology	10682	EBP	OMIM:300960
HP:0030791	Abnormal jaw morphology	23556	PIGN	ORPHA:280633
HP:0030791	Abnormal jaw morphology	2571	GAD1	OMIM:619124
HP:0030791	Abnormal jaw morphology	6872	TAF1	OMIM:300966
HP:0030791	Abnormal jaw morphology	55617	TASP1	OMIM:618950
HP:0030791	Abnormal jaw morphology	51305	KCNK9	OMIM:612292
HP:0030791	Abnormal jaw morphology	5075	PAX1	OMIM:615560
HP:0030791	Abnormal jaw morphology	8481	OFD1	OMIM:311200
HP:0030791	Abnormal jaw morphology	100506658	OCLN	OMIM:251290
HP:0030791	Abnormal jaw morphology	124583	CANT1	OMIM:251450
HP:0030791	Abnormal jaw morphology	7846	TUBA1A	ORPHA:171680
HP:0030791	Abnormal jaw morphology	153241	CEP120	OMIM:616300
HP:0030791	Abnormal jaw morphology	8565	YARS1	OMIM:619418
HP:0030791	Abnormal jaw morphology	9469	CHST3	OMIM:245600
HP:0030791	Abnormal jaw morphology	26229	B3GAT3	OMIM:245600
HP:0030791	Abnormal jaw morphology	9775	EIF4A3	OMIM:268305
HP:0030791	Abnormal jaw morphology	26173	INTS1	OMIM:618571
HP:0030791	Abnormal jaw morphology	2248	FGF3	ORPHA:2791
HP:0030791	Abnormal jaw morphology	7291	TWIST1	ORPHA:794
HP:0030791	Abnormal jaw morphology	7291	TWIST1	OMIM:101400
HP:0030791	Abnormal jaw morphology	2245	FGD1	OMIM:305400
HP:0030791	Abnormal jaw morphology	2245	FGD1	ORPHA:915
HP:0030791	Abnormal jaw morphology	10617	STAMBP	OMIM:614261
HP:0030791	Abnormal jaw morphology	22856	CHSY1	ORPHA:363417
HP:0030791	Abnormal jaw morphology	26128	KIFBP	OMIM:609460
HP:0030791	Abnormal jaw morphology	10992	SF3B2	OMIM:164210
HP:0030791	Abnormal jaw morphology	8626	TP63	OMIM:604292
HP:0030791	Abnormal jaw morphology	8626	TP63	ORPHA:199306
HP:0030791	Abnormal jaw morphology	8626	TP63	OMIM:106260
HP:0030791	Abnormal jaw morphology	8626	TP63	OMIM:129400
HP:0030791	Abnormal jaw morphology	5308	PITX2	ORPHA:782
HP:0030791	Abnormal jaw morphology	5308	PITX2	OMIM:180500
HP:0030791	Abnormal jaw morphology	2296	FOXC1	ORPHA:782
HP:0030791	Abnormal jaw morphology	7314	UBB	ORPHA:99772
HP:0030791	Abnormal jaw morphology	57822	GRHL3	ORPHA:99772
HP:0030791	Abnormal jaw morphology	650	BMP2	ORPHA:261295
HP:0030791	Abnormal jaw morphology	91179	SCARF2	OMIM:600920
HP:0030791	Abnormal jaw morphology	6651	SON	OMIM:617140
HP:0030791	Abnormal jaw morphology	6651	SON	ORPHA:500150
HP:0030791	Abnormal jaw morphology	57589	RIC1	ORPHA:199306
HP:0030791	Abnormal jaw morphology	5818	NECTIN1	ORPHA:199306
HP:0030791	Abnormal jaw morphology	1739	DLG1	ORPHA:199306
HP:0030791	Abnormal jaw morphology	999	CDH1	ORPHA:199306
HP:0030791	Abnormal jaw morphology	5156	PDGFRA	ORPHA:199306
HP:0030791	Abnormal jaw morphology	1748	DLX4	ORPHA:199306
HP:0030791	Abnormal jaw morphology	4487	MSX1	ORPHA:199306
HP:0030791	Abnormal jaw morphology	22837	COBLL1	ORPHA:199306
HP:0030791	Abnormal jaw morphology	54848	ARHGEF38	ORPHA:199306
HP:0030791	Abnormal jaw morphology	9411	ARHGAP29	ORPHA:199306
HP:0030791	Abnormal jaw morphology	25782	RAB3GAP2	OMIM:212720
HP:0030791	Abnormal jaw morphology	51114	ZDHHC9	ORPHA:776
HP:0030791	Abnormal jaw morphology	9968	MED12	ORPHA:776
HP:0030791	Abnormal jaw morphology	9968	MED12	OMIM:309520
HP:0030791	Abnormal jaw morphology	4750	NEK1	OMIM:252100
HP:0030791	Abnormal jaw morphology	64135	IFIH1	OMIM:182250
HP:0030791	Abnormal jaw morphology	1896	EDA	OMIM:305100
HP:0030791	Abnormal jaw morphology	10484	SEC23A	ORPHA:50814
HP:0030791	Abnormal jaw morphology	29920	PYCR2	ORPHA:481152
HP:0030791	Abnormal jaw morphology	2317	FLNB	OMIM:108721
HP:0030791	Abnormal jaw morphology	3759	KCNJ2	OMIM:170390
HP:0030791	Abnormal jaw morphology	3759	KCNJ2	ORPHA:37553
HP:0030791	Abnormal jaw morphology	157680	VPS13B	OMIM:216550
HP:0030791	Abnormal jaw morphology	157680	VPS13B	ORPHA:193
HP:0030791	Abnormal jaw morphology	1301	COL11A1	ORPHA:560
HP:0030791	Abnormal jaw morphology	633	BGN	OMIM:300106
HP:0030791	Abnormal jaw morphology	8642	DCHS1	OMIM:601390
HP:0030791	Abnormal jaw morphology	8642	DCHS1	ORPHA:314679
HP:0030791	Abnormal jaw morphology	9343	EFTUD2	ORPHA:79113
HP:0030791	Abnormal jaw morphology	81794	ADAMTS10	OMIM:277600
HP:0030791	Abnormal jaw morphology	23347	SMCHD1	ORPHA:2250
HP:0030791	Abnormal jaw morphology	55621	TRMT1	OMIM:618302
HP:0030791	Abnormal jaw morphology	8092	ALX1	ORPHA:306542
HP:0030791	Abnormal jaw morphology	145173	B3GLCT	OMIM:261540
HP:0030791	Abnormal jaw morphology	54499	TMCO1	OMIM:213980
HP:0030791	Abnormal jaw morphology	415	ARSL	ORPHA:79345
HP:0030791	Abnormal jaw morphology	93986	FOXP2	ORPHA:251061
HP:0030791	Abnormal jaw morphology	2736	GLI2	OMIM:610829
HP:0030791	Abnormal jaw morphology	51715	RAB23	OMIM:201000
HP:0030791	Abnormal jaw morphology	1736	DKC1	OMIM:301108
HP:0030791	Abnormal jaw morphology	1736	DKC1	ORPHA:1775
HP:0030791	Abnormal jaw morphology	4313	MMP2	OMIM:259600
HP:0030791	Abnormal jaw morphology	257	ALX3	OMIM:136760
HP:0030791	Abnormal jaw morphology	257	ALX3	ORPHA:391474
HP:0030791	Abnormal jaw morphology	54101	RIPK4	OMIM:263650
HP:0030791	Abnormal jaw morphology	5566	PRKACA	OMIM:619142
HP:0030791	Abnormal jaw morphology	80169	CTC1	ORPHA:1775
HP:0030791	Abnormal jaw morphology	26277	TINF2	ORPHA:1775
HP:0030791	Abnormal jaw morphology	55651	NHP2	ORPHA:1775
HP:0030791	Abnormal jaw morphology	55135	WRAP53	ORPHA:1775
HP:0030791	Abnormal jaw morphology	51750	RTEL1	ORPHA:1775
HP:0030791	Abnormal jaw morphology	4869	NPM1	ORPHA:1775
HP:0030791	Abnormal jaw morphology	7012	TERC	ORPHA:1775
HP:0030791	Abnormal jaw morphology	55505	NOP10	ORPHA:1775
HP:0030791	Abnormal jaw morphology	5073	PARN	ORPHA:1775
HP:0030791	Abnormal jaw morphology	7015	TERT	ORPHA:1775
HP:0030791	Abnormal jaw morphology	7298	TYMS	ORPHA:1775
HP:0030791	Abnormal jaw morphology	10844	TUBGCP2	OMIM:618737
HP:0030791	Abnormal jaw morphology	5290	PIK3CA	OMIM:615108
HP:0030791	Abnormal jaw morphology	207	AKT1	OMIM:615109
HP:0030791	Abnormal jaw morphology	9935	MAFB	OMIM:166300
HP:0030791	Abnormal jaw morphology	3762	KCNJ5	ORPHA:37553
HP:0030791	Abnormal jaw morphology	865	CBFB	OMIM:620099
HP:0030791	Abnormal jaw morphology	9990	SLC12A6	OMIM:218000
HP:0030791	Abnormal jaw morphology	26235	FBXL4	OMIM:615471
HP:0030791	Abnormal jaw morphology	4897	NRCAM	OMIM:619833
HP:0030791	Abnormal jaw morphology	5927	KDM5A	OMIM:620820
HP:0030791	Abnormal jaw morphology	1134	CHRNA1	OMIM:608930
HP:0030791	Abnormal jaw morphology	1134	CHRNA1	OMIM:253290
HP:0030791	Abnormal jaw morphology	55209	SETD5	ORPHA:404440
HP:0030791	Abnormal jaw morphology	55209	SETD5	OMIM:615761
HP:0030791	Abnormal jaw morphology	1836	SLC26A2	ORPHA:56304
HP:0030791	Abnormal jaw morphology	1836	SLC26A2	OMIM:256050
HP:0030791	Abnormal jaw morphology	1836	SLC26A2	ORPHA:93298
HP:0030791	Abnormal jaw morphology	1836	SLC26A2	ORPHA:628
HP:0030791	Abnormal jaw morphology	1836	SLC26A2	ORPHA:93307
HP:0030791	Abnormal jaw morphology	6662	SOX9	ORPHA:140
HP:0030791	Abnormal jaw morphology	6662	SOX9	OMIM:114290
HP:0030791	Abnormal jaw morphology	6662	SOX9	ORPHA:718
HP:0030791	Abnormal jaw morphology	2073	ERCC5	OMIM:616570
HP:0030791	Abnormal jaw morphology	2073	ERCC5	ORPHA:1466
HP:0030791	Abnormal jaw morphology	27245	AHDC1	ORPHA:412069
HP:0030791	Abnormal jaw morphology	27245	AHDC1	OMIM:615829
HP:0030791	Abnormal jaw morphology	23426	GRIP1	OMIM:617667
HP:0030791	Abnormal jaw morphology	2137	EXTL3	OMIM:617425
HP:0030791	Abnormal jaw morphology	2137	EXTL3	ORPHA:508533
HP:0030791	Abnormal jaw morphology	5184	PEPD	OMIM:170100
HP:0030791	Abnormal jaw morphology	5184	PEPD	ORPHA:742
HP:0030791	Abnormal jaw morphology	57082	KNL1	OMIM:604321
HP:0030791	Abnormal jaw morphology	54453	RIN2	OMIM:613075
HP:0030791	Abnormal jaw morphology	1020	CDK5	OMIM:616342
HP:0030791	Abnormal jaw morphology	79029	AFG2B	OMIM:619616
HP:0030791	Abnormal jaw morphology	64359	NXN	OMIM:618529
HP:0030791	Abnormal jaw morphology	64359	NXN	ORPHA:1507
HP:0030791	Abnormal jaw morphology	54543	TOMM7	OMIM:620601
HP:0030791	Abnormal jaw morphology	55681	SCYL2	OMIM:618766
HP:0030791	Abnormal jaw morphology	55681	SCYL2	ORPHA:1143
HP:0030791	Abnormal jaw morphology	4604	MYBPC1	OMIM:618524
HP:0030791	Abnormal jaw morphology	5191	PEX7	OMIM:215100
HP:0030791	Abnormal jaw morphology	11285	B4GALT7	OMIM:130070
HP:0030791	Abnormal jaw morphology	26038	CHD5	OMIM:619873
HP:0030791	Abnormal jaw morphology	5034	P4HB	OMIM:112240
HP:0030791	Abnormal jaw morphology	5034	P4HB	ORPHA:2050
HP:0030791	Abnormal jaw morphology	6905	TBCE	OMIM:241410
HP:0030791	Abnormal jaw morphology	6905	TBCE	ORPHA:2323
HP:0030791	Abnormal jaw morphology	9091	PIGQ	OMIM:618548
HP:0030791	Abnormal jaw morphology	8818	DPM2	OMIM:615042
HP:0030791	Abnormal jaw morphology	8818	DPM2	ORPHA:329178
HP:0030791	Abnormal jaw morphology	4285	MIPEP	OMIM:617228
HP:0030791	Abnormal jaw morphology	79971	WLS	OMIM:619648
HP:0030791	Abnormal jaw morphology	23483	TGDS	OMIM:616145
HP:0030791	Abnormal jaw morphology	23483	TGDS	ORPHA:1388
HP:0030791	Abnormal jaw morphology	64919	BCL11B	OMIM:617237
HP:0030791	Abnormal jaw morphology	25836	NIPBL	OMIM:122470
HP:0030791	Abnormal jaw morphology	25836	NIPBL	ORPHA:199
HP:0030791	Abnormal jaw morphology	6885	MAP3K7	ORPHA:1826
HP:0030791	Abnormal jaw morphology	6138	RPL15	ORPHA:124
HP:0030791	Abnormal jaw morphology	6224	RPS20	ORPHA:124
HP:0030791	Abnormal jaw morphology	6165	RPL35A	ORPHA:124
HP:0030791	Abnormal jaw morphology	6132	RPL8	ORPHA:124
HP:0030791	Abnormal jaw morphology	6232	RPS27	ORPHA:124
HP:0030791	Abnormal jaw morphology	55027	HEATR3	ORPHA:124
HP:0030791	Abnormal jaw morphology	55027	HEATR3	OMIM:620072
HP:0030791	Abnormal jaw morphology	6160	RPL31	ORPHA:124
HP:0030791	Abnormal jaw morphology	6201	RPS7	ORPHA:124
HP:0030791	Abnormal jaw morphology	6155	RPL27	ORPHA:124
HP:0030791	Abnormal jaw morphology	6234	RPS28	ORPHA:124
HP:0030791	Abnormal jaw morphology	6234	RPS28	OMIM:606164
HP:0030791	Abnormal jaw morphology	6135	RPL11	ORPHA:124
HP:0030791	Abnormal jaw morphology	6229	RPS24	ORPHA:124
HP:0030791	Abnormal jaw morphology	6204	RPS10	ORPHA:124
HP:0030791	Abnormal jaw morphology	2623	GATA1	ORPHA:124
HP:0030791	Abnormal jaw morphology	6133	RPL9	ORPHA:124
HP:0030791	Abnormal jaw morphology	6231	RPS26	ORPHA:124
HP:0030791	Abnormal jaw morphology	6231	RPS26	OMIM:613309
HP:0030791	Abnormal jaw morphology	11224	RPL35	ORPHA:124
HP:0030791	Abnormal jaw morphology	6218	RPS17	ORPHA:124
HP:0030791	Abnormal jaw morphology	6154	RPL26	ORPHA:124
HP:0030791	Abnormal jaw morphology	6210	RPS15A	ORPHA:124
HP:0030791	Abnormal jaw morphology	90121	TSR2	ORPHA:124
HP:0030791	Abnormal jaw morphology	90121	TSR2	OMIM:300946
HP:0030791	Abnormal jaw morphology	6141	RPL18	ORPHA:124
HP:0030791	Abnormal jaw morphology	6235	RPS29	ORPHA:124
HP:0030791	Abnormal jaw morphology	51816	ADA2	ORPHA:124
HP:0030791	Abnormal jaw morphology	25970	SH2B1	ORPHA:261197
HP:0030791	Abnormal jaw morphology	9742	IFT140	OMIM:266920
HP:0030791	Abnormal jaw morphology	5881	RAC3	OMIM:618577
HP:0030791	Abnormal jaw morphology	9427	ECEL1	OMIM:615065
HP:0030791	Abnormal jaw morphology	5426	POLE	OMIM:618336
HP:0030791	Abnormal jaw morphology	5081	PAX7	OMIM:618578
HP:0030791	Abnormal jaw morphology	5813	PURA	ORPHA:314655
HP:0030791	Abnormal jaw morphology	9949	AMMECR1	OMIM:300990
HP:0030791	Abnormal jaw morphology	3479	IGF1	ORPHA:73272
HP:0030791	Abnormal jaw morphology	3479	IGF1	OMIM:608747
HP:0030791	Abnormal jaw morphology	4921	DDR2	OMIM:271665
HP:0030791	Abnormal jaw morphology	9488	PIGB	OMIM:618580
HP:0030791	Abnormal jaw morphology	79912	PYROXD1	OMIM:617258
HP:0030791	Abnormal jaw morphology	5396	PRRX1	OMIM:202650
HP:0030791	Abnormal jaw morphology	1798	DPAGT1	OMIM:608093
HP:0030791	Abnormal jaw morphology	57122	NUP107	OMIM:618348
HP:0030791	Abnormal jaw morphology	57122	NUP107	ORPHA:2065
HP:0030791	Abnormal jaw morphology	57122	NUP107	OMIM:616730
HP:0030791	Abnormal jaw morphology	253738	EBF3	ORPHA:96148
HP:0030791	Abnormal jaw morphology	90459	ERI1	OMIM:620663
HP:0030791	Abnormal jaw morphology	27125	AFF4	ORPHA:444077
HP:0030791	Abnormal jaw morphology	10733	PLK4	OMIM:616171
HP:0030791	Abnormal jaw morphology	10733	PLK4	ORPHA:808
HP:0030791	Abnormal jaw morphology	2972	BRF1	ORPHA:444072
HP:0030791	Abnormal jaw morphology	91754	NEK9	OMIM:617022
HP:0030791	Abnormal jaw morphology	23114	NFASC	OMIM:618356
HP:0030791	Abnormal jaw morphology	29954	POMT2	OMIM:236670
HP:0030791	Abnormal jaw morphology	79147	FKRP	OMIM:236670
HP:0030791	Abnormal jaw morphology	2218	FKTN	OMIM:236670
HP:0030791	Abnormal jaw morphology	10585	POMT1	OMIM:236670
HP:0030791	Abnormal jaw morphology	9215	LARGE1	OMIM:236670
HP:0030791	Abnormal jaw morphology	473	RERE	ORPHA:494344
HP:0030791	Abnormal jaw morphology	473	RERE	OMIM:616975
HP:0030791	Abnormal jaw morphology	5980	REV3L	ORPHA:570
HP:0030791	Abnormal jaw morphology	23129	PLXND1	ORPHA:570
HP:0030791	Abnormal jaw morphology	51132	RLIM	OMIM:300978
HP:0030791	Abnormal jaw morphology	63925	ZNF335	OMIM:615095
HP:0030791	Abnormal jaw morphology	22930	RAB3GAP1	OMIM:600118
HP:0030791	Abnormal jaw morphology	22930	RAB3GAP1	ORPHA:2510
HP:0030791	Abnormal jaw morphology	22930	RAB3GAP1	ORPHA:1387
HP:0030791	Abnormal jaw morphology	51434	ANAPC7	OMIM:619699
HP:0030791	Abnormal jaw morphology	92255	LMBRD2	OMIM:619694
HP:0030791	Abnormal jaw morphology	7468	NSD2	OMIM:619695
HP:0030791	Abnormal jaw morphology	7468	NSD2	OMIM:194190
HP:0030791	Abnormal jaw morphology	7468	NSD2	ORPHA:280
HP:0030791	Abnormal jaw morphology	344167	FOXI3	OMIM:620444
HP:0030791	Abnormal jaw morphology	1312	COMT	ORPHA:567
HP:0030791	Abnormal jaw morphology	221037	JMJD1C	ORPHA:567
HP:0030791	Abnormal jaw morphology	2812	GP1BB	ORPHA:567
HP:0030791	Abnormal jaw morphology	6239	RREB1	ORPHA:567
HP:0030791	Abnormal jaw morphology	7290	HIRA	ORPHA:567
HP:0030791	Abnormal jaw morphology	9632	SEC24C	ORPHA:567
HP:0030791	Abnormal jaw morphology	7353	UFD1	ORPHA:567
HP:0030791	Abnormal jaw morphology	421	ARVCF	ORPHA:567
HP:0030791	Abnormal jaw morphology	538	ATP7A	ORPHA:565
HP:0030791	Abnormal jaw morphology	79867	TCTN2	ORPHA:564
HP:0030791	Abnormal jaw morphology	80776	B9D2	ORPHA:564
HP:0030791	Abnormal jaw morphology	79600	TCTN1	ORPHA:564
HP:0030791	Abnormal jaw morphology	57096	RPGRIP1	ORPHA:564
HP:0030791	Abnormal jaw morphology	79848	CSPP1	ORPHA:564
HP:0030791	Abnormal jaw morphology	79848	CSPP1	ORPHA:397715
HP:0030791	Abnormal jaw morphology	51259	TMEM216	ORPHA:564
HP:0030791	Abnormal jaw morphology	51259	TMEM216	ORPHA:2754
HP:0030791	Abnormal jaw morphology	57545	CC2D2A	ORPHA:564
HP:0030791	Abnormal jaw morphology	79583	TMEM231	ORPHA:564
HP:0030791	Abnormal jaw morphology	79583	TMEM231	ORPHA:2754
HP:0030791	Abnormal jaw morphology	91147	TMEM67	ORPHA:564
HP:0030791	Abnormal jaw morphology	27077	B9D1	ORPHA:564
HP:0030791	Abnormal jaw morphology	23322	RPGRIP1L	ORPHA:564
HP:0030791	Abnormal jaw morphology	65062	TMEM237	ORPHA:564
HP:0030791	Abnormal jaw morphology	7317	UBA1	OMIM:301830
HP:0030791	Abnormal jaw morphology	3188	HNRNPH2	OMIM:300986
HP:0030791	Abnormal jaw morphology	9734	HDAC9	OMIM:620457
HP:0030791	Abnormal jaw morphology	1974	EIF4A2	OMIM:620455
HP:0030791	Abnormal jaw morphology	55605	KIF21A	ORPHA:994
HP:0030791	Abnormal jaw morphology	4593	MUSK	ORPHA:994
HP:0030791	Abnormal jaw morphology	4593	MUSK	OMIM:208150
HP:0030791	Abnormal jaw morphology	5913	RAPSN	ORPHA:994
HP:0030791	Abnormal jaw morphology	5913	RAPSN	OMIM:618388
HP:0030791	Abnormal jaw morphology	285489	DOK7	ORPHA:994
HP:0030791	Abnormal jaw morphology	285489	DOK7	OMIM:618389
HP:0030791	Abnormal jaw morphology	50801	KCNK4	OMIM:618381
HP:0030791	Abnormal jaw morphology	65250	CPLANE1	OMIM:277170
HP:0030791	Abnormal jaw morphology	65250	CPLANE1	ORPHA:2754
HP:0030791	Abnormal jaw morphology	134218	DNAJC21	OMIM:617052
HP:0030791	Abnormal jaw morphology	6608	SMO	OMIM:241800
HP:0030791	Abnormal jaw morphology	80036	TRPM3	OMIM:620224
HP:0030791	Abnormal jaw morphology	10283	CWC27	ORPHA:166035
HP:0030791	Abnormal jaw morphology	10283	CWC27	OMIM:250410
HP:0030791	Abnormal jaw morphology	215	ABCD1	ORPHA:369942
HP:0030791	Abnormal jaw morphology	10134	BCAP31	ORPHA:369942
HP:0030791	Abnormal jaw morphology	2887	GRB10	ORPHA:96182
HP:0030791	Abnormal jaw morphology	25839	COG4	OMIM:618150
HP:0030791	Abnormal jaw morphology	1457	CSNK2A1	OMIM:617062
HP:0030791	Abnormal jaw morphology	203068	TUBB	OMIM:156610
HP:0030791	Abnormal jaw morphology	203068	TUBB	ORPHA:2505
HP:0030791	Abnormal jaw morphology	55640	FLVCR2	OMIM:225790
HP:0030791	Abnormal jaw morphology	23112	TNRC6B	OMIM:619243
HP:0030791	Abnormal jaw morphology	9373	PLAA	ORPHA:521426
HP:0030791	Abnormal jaw morphology	9373	PLAA	OMIM:617527
HP:0030791	Abnormal jaw morphology	93587	TRMT10A	ORPHA:391408
HP:0030791	Abnormal jaw morphology	84919	PPP1R15B	ORPHA:391408
HP:0030791	Abnormal jaw morphology	84919	PPP1R15B	OMIM:616817
HP:0030791	Abnormal jaw morphology	199221	DZIP1L	ORPHA:731
HP:0030791	Abnormal jaw morphology	5314	PKHD1	ORPHA:731
HP:0030791	Abnormal jaw morphology	60386	SLC25A19	OMIM:607196
HP:0030791	Abnormal jaw morphology	60386	SLC25A19	ORPHA:99742
HP:0030791	Abnormal jaw morphology	126792	B3GALT6	OMIM:271640
HP:0030791	Abnormal jaw morphology	126792	B3GALT6	OMIM:609465
HP:0030791	Abnormal jaw morphology	126792	B3GALT6	ORPHA:536467
HP:0030791	Abnormal jaw morphology	126792	B3GALT6	OMIM:615349
HP:0030791	Abnormal jaw morphology	10436	EMG1	OMIM:211180
HP:0030791	Abnormal jaw morphology	10436	EMG1	ORPHA:1270
HP:0030791	Abnormal jaw morphology	4081	MAB21L1	ORPHA:495875
HP:0030791	Abnormal jaw morphology	5745	PTH1R	OMIM:156400
HP:0030791	Abnormal jaw morphology	5745	PTH1R	OMIM:215045
HP:0030791	Abnormal jaw morphology	5745	PTH1R	ORPHA:50945
HP:0030791	Abnormal jaw morphology	6748	SSR4	OMIM:300934
HP:0030791	Abnormal jaw morphology	84464	SLX4	OMIM:613951
HP:0030791	Abnormal jaw morphology	84464	SLX4	ORPHA:84
HP:0030791	Abnormal jaw morphology	5557	PRIM1	OMIM:620005
HP:0030791	Abnormal jaw morphology	2801	GOLGA2	OMIM:620240
HP:0030791	Abnormal jaw morphology	9897	WASHC5	ORPHA:7
HP:0030791	Abnormal jaw morphology	9897	WASHC5	OMIM:220210
HP:0030791	Abnormal jaw morphology	28952	CCDC22	ORPHA:7
HP:0030791	Abnormal jaw morphology	57020	VPS35L	ORPHA:7
HP:0030791	Abnormal jaw morphology	57020	VPS35L	OMIM:619135
HP:0030791	Abnormal jaw morphology	56896	DPYSL5	ORPHA:7
HP:0030791	Abnormal jaw morphology	114034	TOE1	ORPHA:284339
HP:0030791	Abnormal jaw morphology	114034	TOE1	OMIM:614969
HP:0030791	Abnormal jaw morphology	9562	MINPP1	ORPHA:284339
HP:0030791	Abnormal jaw morphology	55181	SMG8	OMIM:619268
HP:0030791	Abnormal jaw morphology	51109	RDH11	ORPHA:436245
HP:0030791	Abnormal jaw morphology	79693	YRDC	ORPHA:2065
HP:0030791	Abnormal jaw morphology	84942	WDR73	ORPHA:2065
HP:0030791	Abnormal jaw morphology	84942	WDR73	OMIM:251300
HP:0030791	Abnormal jaw morphology	55644	OSGEP	ORPHA:2065
HP:0030791	Abnormal jaw morphology	55644	OSGEP	OMIM:617729
HP:0030791	Abnormal jaw morphology	10785	WDR4	ORPHA:2065
HP:0030791	Abnormal jaw morphology	55746	NUP133	ORPHA:2065
HP:0030791	Abnormal jaw morphology	84520	GON7	ORPHA:2065
HP:0030791	Abnormal jaw morphology	112858	TP53RK	ORPHA:2065
HP:0030791	Abnormal jaw morphology	8270	LAGE3	ORPHA:2065
HP:0030791	Abnormal jaw morphology	8270	LAGE3	OMIM:301006
HP:0030791	Abnormal jaw morphology	168667	BMPER	OMIM:608022
HP:0030791	Abnormal jaw morphology	6309	SC5D	ORPHA:46059
HP:0030791	Abnormal jaw morphology	6309	SC5D	OMIM:607330
HP:0030791	Abnormal jaw morphology	161742	SPRED1	OMIM:611431
HP:0030791	Abnormal jaw morphology	673	BRAF	OMIM:115150
HP:0030791	Abnormal jaw morphology	673	BRAF	OMIM:163950
HP:0030791	Abnormal jaw morphology	7518	XRCC4	ORPHA:99812
HP:0030791	Abnormal jaw morphology	7518	XRCC4	ORPHA:436182
HP:0030791	Abnormal jaw morphology	3981	LIG4	ORPHA:99812
HP:0030791	Abnormal jaw morphology	3981	LIG4	ORPHA:235
HP:0030791	Abnormal jaw morphology	1303	COL12A1	ORPHA:75840
HP:0030791	Abnormal jaw morphology	1303	COL12A1	ORPHA:536516
HP:0030791	Abnormal jaw morphology	1291	COL6A1	ORPHA:75840
HP:0030791	Abnormal jaw morphology	1292	COL6A2	ORPHA:75840
HP:0030791	Abnormal jaw morphology	1292	COL6A2	OMIM:620727
HP:0030791	Abnormal jaw morphology	1293	COL6A3	ORPHA:75840
HP:0030791	Abnormal jaw morphology	55112	DYNC2I1	ORPHA:93271
HP:0030791	Abnormal jaw morphology	57560	IFT80	ORPHA:93271
HP:0030791	Abnormal jaw morphology	79659	DYNC2H1	ORPHA:93271
HP:0030791	Abnormal jaw morphology	89891	DYNC2I2	ORPHA:93271
HP:0030791	Abnormal jaw morphology	55780	ERMARD	ORPHA:75857
HP:0030791	Abnormal jaw morphology	10225	CD96	OMIM:211750
HP:0030791	Abnormal jaw morphology	10225	CD96	ORPHA:1308
HP:0030791	Abnormal jaw morphology	9382	COG1	OMIM:611209
HP:0030791	Abnormal jaw morphology	9382	COG1	ORPHA:263508
HP:0030791	Abnormal jaw morphology	1763	DNA2	OMIM:615807
HP:0030791	Abnormal jaw morphology	1763	DNA2	ORPHA:808
HP:0030791	Abnormal jaw morphology	1801	DPH1	OMIM:616901
HP:0030791	Abnormal jaw morphology	1801	DPH1	ORPHA:459061
HP:0030791	Abnormal jaw morphology	672	BRCA1	ORPHA:84
HP:0030791	Abnormal jaw morphology	10459	MAD2L2	ORPHA:84
HP:0030791	Abnormal jaw morphology	7516	XRCC2	ORPHA:84
HP:0030791	Abnormal jaw morphology	29089	UBE2T	ORPHA:84
HP:0030791	Abnormal jaw morphology	675	BRCA2	ORPHA:84
HP:0030791	Abnormal jaw morphology	55120	FANCL	ORPHA:84
HP:0030791	Abnormal jaw morphology	55120	FANCL	OMIM:614083
HP:0030791	Abnormal jaw morphology	2177	FANCD2	ORPHA:84
HP:0030791	Abnormal jaw morphology	2175	FANCA	ORPHA:84
HP:0030791	Abnormal jaw morphology	2176	FANCC	ORPHA:84
HP:0030791	Abnormal jaw morphology	2178	FANCE	ORPHA:84
HP:0030791	Abnormal jaw morphology	2188	FANCF	ORPHA:84
HP:0030791	Abnormal jaw morphology	2189	FANCG	ORPHA:84
HP:0030791	Abnormal jaw morphology	5888	RAD51	ORPHA:84
HP:0030791	Abnormal jaw morphology	5889	RAD51C	ORPHA:84
HP:0030791	Abnormal jaw morphology	55159	RFWD3	ORPHA:84
HP:0030791	Abnormal jaw morphology	83990	BRIP1	ORPHA:84
HP:0030791	Abnormal jaw morphology	57697	FANCM	ORPHA:84
HP:0030791	Abnormal jaw morphology	79728	PALB2	ORPHA:84
HP:0030791	Abnormal jaw morphology	55215	FANCI	ORPHA:84
HP:0030791	Abnormal jaw morphology	9896	FIG4	ORPHA:3472
HP:0030791	Abnormal jaw morphology	9896	FIG4	OMIM:216340
HP:0030791	Abnormal jaw morphology	55697	VAC14	ORPHA:3472
HP:0030791	Abnormal jaw morphology	9184	BUB3	ORPHA:1052
HP:0030791	Abnormal jaw morphology	699	BUB1	ORPHA:1052
HP:0030791	Abnormal jaw morphology	9702	CEP57	ORPHA:1052
HP:0030791	Abnormal jaw morphology	9702	CEP57	OMIM:614114
HP:0030791	Abnormal jaw morphology	9319	TRIP13	ORPHA:1052
HP:0030791	Abnormal jaw morphology	701	BUB1B	ORPHA:1052
HP:0030791	Abnormal jaw morphology	701	BUB1B	OMIM:257300
HP:0030791	Abnormal jaw morphology	23036	ZNF292	OMIM:619188
HP:0030791	Abnormal jaw morphology	23314	SATB2	OMIM:612313
HP:0030791	Abnormal jaw morphology	23314	SATB2	ORPHA:576283
HP:0030791	Abnormal jaw morphology	23314	SATB2	ORPHA:251028
HP:0030791	Abnormal jaw morphology	23314	SATB2	ORPHA:251019
HP:0030791	Abnormal jaw morphology	55636	CHD7	OMIM:214800
HP:0030791	Abnormal jaw morphology	526	ATP6V1B2	ORPHA:3473
HP:0030791	Abnormal jaw morphology	3782	KCNN3	ORPHA:3473
HP:0030791	Abnormal jaw morphology	10815	CPLX1	OMIM:194190
HP:0030791	Abnormal jaw morphology	10815	CPLX1	ORPHA:280
HP:0030791	Abnormal jaw morphology	53834	FGFRL1	OMIM:194190
HP:0030791	Abnormal jaw morphology	3954	LETM1	OMIM:194190
HP:0030791	Abnormal jaw morphology	3954	LETM1	ORPHA:280
HP:0030791	Abnormal jaw morphology	3954	LETM1	OMIM:620089
HP:0030791	Abnormal jaw morphology	165	AEBP1	ORPHA:536532
HP:0030791	Abnormal jaw morphology	165	AEBP1	OMIM:618000
HP:0030791	Abnormal jaw morphology	3192	HNRNPU	ORPHA:238769
HP:0030791	Abnormal jaw morphology	10013	HDAC6	ORPHA:163966
HP:0030791	Abnormal jaw morphology	3211	HOXB1	OMIM:614744
HP:0030791	Abnormal jaw morphology	8379	MAD1L1	OMIM:620189
HP:0030791	Abnormal jaw morphology	23137	SMC5	OMIM:620185
HP:0030791	Abnormal jaw morphology	57459	GATAD2B	ORPHA:363686
HP:0030791	Abnormal jaw morphology	6473	SHOX	OMIM:249700
HP:0030791	Abnormal jaw morphology	6473	SHOX	ORPHA:314795
HP:0030791	Abnormal jaw morphology	81887	LAS1L	ORPHA:3459
HP:0030791	Abnormal jaw morphology	23261	CAMTA1	OMIM:614756
HP:0030791	Abnormal jaw morphology	10472	ZBTB18	OMIM:612337
HP:0030791	Abnormal jaw morphology	10472	ZBTB18	ORPHA:36367
HP:0030791	Abnormal jaw morphology	2255	FGF10	ORPHA:2363
HP:0030791	Abnormal jaw morphology	8813	DPM1	OMIM:608799
HP:0030791	Abnormal jaw morphology	8813	DPM1	ORPHA:79322
HP:0030791	Abnormal jaw morphology	55275	VPS53	OMIM:615851
HP:0030791	Abnormal jaw morphology	545	ATR	ORPHA:808
HP:0030791	Abnormal jaw morphology	545	ATR	OMIM:210600
HP:0030791	Abnormal jaw morphology	1062	CENPE	ORPHA:808
HP:0030791	Abnormal jaw morphology	1062	CENPE	OMIM:616051
HP:0030791	Abnormal jaw morphology	79902	NUP85	ORPHA:808
HP:0030791	Abnormal jaw morphology	84126	ATRIP	ORPHA:808
HP:0030791	Abnormal jaw morphology	10293	TRAIP	ORPHA:808
HP:0030791	Abnormal jaw morphology	10293	TRAIP	OMIM:616777
HP:0030791	Abnormal jaw morphology	1302	COL11A2	OMIM:614524
HP:0030791	Abnormal jaw morphology	1302	COL11A2	ORPHA:1427
HP:0030791	Abnormal jaw morphology	1302	COL11A2	ORPHA:166100
HP:0030791	Abnormal jaw morphology	1302	COL11A2	OMIM:215150
HP:0030791	Abnormal jaw morphology	80324	PUS1	ORPHA:2598
HP:0030791	Abnormal jaw morphology	80324	PUS1	OMIM:600462
HP:0030791	Abnormal jaw morphology	51067	YARS2	ORPHA:2598
HP:0030791	Abnormal jaw morphology	28962	OSTM1	OMIM:259720
HP:0030791	Abnormal jaw morphology	2303	FOXC2	OMIM:153400
HP:0030791	Abnormal jaw morphology	7407	VARS1	OMIM:617802
HP:0030791	Abnormal jaw morphology	8216	LZTR1	OMIM:605275
HP:0030791	Abnormal jaw morphology	8216	LZTR1	ORPHA:648
HP:0030791	Abnormal jaw morphology	56052	ALG1	OMIM:608540
HP:0030791	Abnormal jaw morphology	84181	CHD6	ORPHA:2108
HP:0030791	Abnormal jaw morphology	10075	HUWE1	OMIM:309590
HP:0030791	Abnormal jaw morphology	10159	ATP6AP2	OMIM:301045
HP:0030791	Abnormal jaw morphology	27238	GPKOW	ORPHA:2570
HP:0030791	Abnormal jaw morphology	4854	NOTCH3	OMIM:130720
HP:0030791	Abnormal jaw morphology	4854	NOTCH3	ORPHA:2789
HP:0030791	Abnormal jaw morphology	84162	BLTP1	OMIM:617822
HP:0030791	Abnormal jaw morphology	10982	MAPRE2	OMIM:616734
HP:0030791	Abnormal jaw morphology	10982	MAPRE2	ORPHA:2505
HP:0030791	Abnormal jaw morphology	57211	ADGRG6	OMIM:616503
HP:0030791	Abnormal jaw morphology	259232	NALCN	OMIM:615419
HP:0030791	Abnormal jaw morphology	259232	NALCN	OMIM:616266
HP:0030791	Abnormal jaw morphology	259232	NALCN	ORPHA:562528
HP:0030791	Abnormal jaw morphology	259232	NALCN	ORPHA:1147
HP:0030791	Abnormal jaw morphology	259232	NALCN	ORPHA:371364
HP:0030791	Abnormal jaw morphology	5723	PSPH	ORPHA:79350
HP:0030791	Abnormal jaw morphology	23476	BRD4	ORPHA:199
HP:0030791	Abnormal jaw morphology	6878	TAF6	ORPHA:199
HP:0030791	Abnormal jaw morphology	9150	CTDP1	ORPHA:48431
HP:0030791	Abnormal jaw morphology	1861	TOR1A	OMIM:618947
HP:0030791	Abnormal jaw morphology	5297	PI4KA	OMIM:616531
HP:0030791	Abnormal jaw morphology	5297	PI4KA	ORPHA:98889
HP:0030791	Abnormal jaw morphology	5297	PI4KA	OMIM:619708
HP:0030791	Abnormal jaw morphology	112752	IFT43	OMIM:617866
HP:0030791	Abnormal jaw morphology	112752	IFT43	OMIM:614099
HP:0030791	Abnormal jaw morphology	80210	ARMC9	OMIM:617622
HP:0030791	Abnormal jaw morphology	113246	C12orf57	OMIM:218340
HP:0030791	Abnormal jaw morphology	259266	ASPM	OMIM:608716
HP:0030791	Abnormal jaw morphology	84700	MYO18B	OMIM:616549
HP:0030791	Abnormal jaw morphology	1146	CHRNG	ORPHA:2990
HP:0030791	Abnormal jaw morphology	1146	CHRNG	OMIM:265000
HP:0030791	Abnormal jaw morphology	1146	CHRNG	OMIM:253290
HP:0030791	Abnormal jaw morphology	9939	RBM8A	OMIM:274000
HP:0030791	Abnormal jaw morphology	9939	RBM8A	ORPHA:3320
HP:0030791	Abnormal jaw morphology	7473	WNT3	OMIM:273395
HP:0030791	Abnormal jaw morphology	7473	WNT3	ORPHA:3301
HP:0030791	Abnormal jaw morphology	22931	RAB18	ORPHA:2510
HP:0030791	Abnormal jaw morphology	22931	RAB18	OMIM:614222
HP:0030791	Abnormal jaw morphology	128637	TBC1D20	ORPHA:2510
HP:0030791	Abnormal jaw morphology	10210	TOPORS	ORPHA:2754
HP:0030791	Abnormal jaw morphology	9851	KIAA0753	ORPHA:2754
HP:0030791	Abnormal jaw morphology	5147	PDE6D	ORPHA:2754
HP:0030791	Abnormal jaw morphology	317662	FAM149B1	ORPHA:2754
HP:0030791	Abnormal jaw morphology	6910	TBX5	OMIM:142900
HP:0030791	Abnormal jaw morphology	55553	SOX6	OMIM:618971
HP:0030791	Abnormal jaw morphology	4281	MID1	ORPHA:2745
HP:0030791	Abnormal jaw morphology	8398	PLA2G6	OMIM:256600
HP:0030791	Abnormal jaw morphology	246329	STAC3	OMIM:255995
HP:0030791	Abnormal jaw morphology	246329	STAC3	ORPHA:168572
HP:0030791	Abnormal jaw morphology	7528	YY1	ORPHA:506358
HP:0030791	Abnormal jaw morphology	7528	YY1	OMIM:617557
HP:0030791	Abnormal jaw morphology	23141	ANKLE2	OMIM:616681
HP:0030791	Abnormal jaw morphology	8294	H4C9	OMIM:619951
HP:0030791	Abnormal jaw morphology	83932	SPRTN	OMIM:616200
HP:0030791	Abnormal jaw morphology	5830	PEX5	OMIM:214110
HP:0030791	Abnormal jaw morphology	5830	PEX5	ORPHA:912
HP:0030791	Abnormal jaw morphology	64220	STRA6	OMIM:601186
HP:0030791	Abnormal jaw morphology	9786	KIAA0586	ORPHA:397715
HP:0030791	Abnormal jaw morphology	51741	WWOX	OMIM:616211
HP:0030791	Abnormal jaw morphology	1723	DHODH	OMIM:263750
HP:0030791	Abnormal jaw morphology	1723	DHODH	ORPHA:246
HP:0030791	Abnormal jaw morphology	72	ACTG2	ORPHA:2604
HP:0030791	Abnormal jaw morphology	2201	FBN2	OMIM:121050
HP:0030791	Abnormal jaw morphology	4286	MITF	OMIM:617306
HP:0030791	Abnormal jaw morphology	5189	PEX1	OMIM:214100
HP:0030791	Abnormal jaw morphology	5189	PEX1	ORPHA:912
HP:0030791	Abnormal jaw morphology	716	C1S	ORPHA:75392
HP:0030791	Abnormal jaw morphology	715	C1R	ORPHA:75392
HP:0030791	Abnormal jaw morphology	10381	TUBB3	ORPHA:300570
HP:0030791	Abnormal jaw morphology	2626	GATA4	ORPHA:251071
HP:0030791	Abnormal jaw morphology	7020	TFAP2A	OMIM:113620
HP:0030791	Abnormal jaw morphology	54872	PIGG	ORPHA:280
HP:0030791	Abnormal jaw morphology	7469	NELFA	ORPHA:280
HP:0030791	Abnormal jaw morphology	22872	SEC31A	OMIM:618651
HP:0030791	Abnormal jaw morphology	4763	NF1	ORPHA:363700
HP:0030791	Abnormal jaw morphology	5424	POLD1	OMIM:615381
HP:0030791	Abnormal jaw morphology	57498	KIDINS220	OMIM:619501
HP:0030791	Abnormal jaw morphology	4174	MCM5	OMIM:617564
HP:0030791	Abnormal jaw morphology	57178	ZMIZ1	OMIM:618659
HP:0030791	Abnormal jaw morphology	267010	RNU12	ORPHA:85199
HP:0030791	Abnormal jaw morphology	55361	PI4K2A	OMIM:620732
HP:0030791	Abnormal jaw morphology	8241	RBM10	OMIM:311900
HP:0030791	Abnormal jaw morphology	8241	RBM10	ORPHA:2886
HP:0030791	Abnormal jaw morphology	57167	SALL4	ORPHA:233
HP:0030791	Abnormal jaw morphology	1123	CHN1	ORPHA:233
HP:0030791	Abnormal jaw morphology	1789	DNMT3B	OMIM:242860
HP:0030791	Abnormal jaw morphology	1789	DNMT3B	ORPHA:2268
HP:0030791	Abnormal jaw morphology	54888	NSUN2	ORPHA:235
HP:0030791	Abnormal jaw morphology	54914	FOCAD	OMIM:619991
HP:0030791	Abnormal jaw morphology	286	ANK1	ORPHA:251066
HP:0030791	Abnormal jaw morphology	145258	GSC	OMIM:602471
HP:0030791	Abnormal jaw morphology	54928	BPNT2	OMIM:614078
HP:0030791	Abnormal jaw morphology	9928	KIF14	OMIM:616258
HP:0030791	Abnormal jaw morphology	2542	SLC37A4	OMIM:619525
HP:0030791	Abnormal jaw morphology	57724	EPG5	OMIM:242840
HP:0030791	Abnormal jaw morphology	23162	MAPK8IP3	OMIM:618443
HP:0030791	Abnormal jaw morphology	4123	MAN2C1	OMIM:619775
HP:0030791	Abnormal jaw morphology	8218	CLTCL1	ORPHA:453510
HP:0030791	Abnormal jaw morphology	23219	FBXO28	OMIM:619777
HP:0030791	Abnormal jaw morphology	9496	TBX4	OMIM:147891
HP:0030791	Abnormal jaw morphology	9496	TBX4	ORPHA:3301
HP:0030791	Abnormal jaw morphology	79087	ALG12	ORPHA:79324
HP:0030791	Abnormal jaw morphology	8295	TRRAP	OMIM:618454
HP:0030791	Abnormal jaw morphology	3763	KCNJ6	OMIM:614098
HP:0030791	Abnormal jaw morphology	3763	KCNJ6	ORPHA:435628
HP:0030791	Abnormal jaw morphology	29968	PSAT1	OMIM:616038
HP:0030791	Abnormal jaw morphology	29968	PSAT1	ORPHA:284417
HP:0030791	Abnormal jaw morphology	58497	PRUNE1	ORPHA:544469
HP:0030791	Abnormal jaw morphology	5062	PAK2	OMIM:618458
HP:0030791	Abnormal jaw morphology	27145	FILIP1	OMIM:620775
HP:0030791	Abnormal jaw morphology	1802	DPH2	ORPHA:459061
HP:0030791	Abnormal jaw morphology	54892	NCAPG2	OMIM:618460
HP:0030791	Abnormal jaw morphology	6091	ROBO1	OMIM:620305
HP:0030791	Abnormal jaw morphology	4076	CAPRIN1	OMIM:620782
HP:0030791	Abnormal jaw morphology	221496	LEMD2	OMIM:619322
HP:0030791	Abnormal jaw morphology	29998	BICRA	OMIM:619325
HP:0030791	Abnormal jaw morphology	23030	KDM4B	OMIM:619320
HP:0030791	Abnormal jaw morphology	1363	CPE	OMIM:619326
HP:0030791	Abnormal jaw morphology	6263	RYR3	OMIM:620310
HP:0030791	Abnormal jaw morphology	6904	TBCD	ORPHA:496641
HP:0030791	Abnormal jaw morphology	6904	TBCD	OMIM:617193
HP:0030791	Abnormal jaw morphology	170302	ARX	ORPHA:452
HP:0030791	Abnormal jaw morphology	170302	ARX	OMIM:300215
HP:0030791	Abnormal jaw morphology	23221	RHOBTB2	OMIM:618004
HP:0030791	Abnormal jaw morphology	10082	GPC6	OMIM:258315
HP:0030791	Abnormal jaw morphology	10082	GPC6	ORPHA:93329
HP:0030791	Abnormal jaw morphology	1147	CHUK	OMIM:619339
HP:0030791	Abnormal jaw morphology	4141	MARS1	OMIM:620323
HP:0030791	Abnormal jaw morphology	8091	HMGA2	ORPHA:94063
HP:0030791	Abnormal jaw morphology	8091	HMGA2	ORPHA:397590
HP:0030791	Abnormal jaw morphology	23592	LEMD3	ORPHA:94063
HP:0030791	Abnormal jaw morphology	26276	VPS33B	OMIM:208085
HP:0030791	Abnormal jaw morphology	5277	PIGA	OMIM:300868
HP:0030791	Abnormal jaw morphology	23384	SPECC1L	OMIM:145420
HP:0030791	Abnormal jaw morphology	80347	COASY	OMIM:618266
HP:0030791	Abnormal jaw morphology	5281	PIGF	OMIM:619356
HP:0030791	Abnormal jaw morphology	51604	PIGT	ORPHA:369837
HP:0030791	Abnormal jaw morphology	2132	EXT2	ORPHA:52022
HP:0030791	Abnormal jaw morphology	60529	ALX4	ORPHA:52022
HP:0030791	Abnormal jaw morphology	51317	PHF21A	ORPHA:52022
HP:0030791	Abnormal jaw morphology	23405	DICER1	OMIM:618272
HP:0030791	Abnormal jaw morphology	10651	MTX2	OMIM:619127
HP:0030791	Abnormal jaw morphology	29123	ANKRD11	ORPHA:261250
HP:0030791	Abnormal jaw morphology	10220	GDF11	OMIM:619122
HP:0030791	Abnormal jaw morphology	90416	CCDC32	OMIM:619123
HP:0030791	Abnormal jaw morphology	5080	PAX6	ORPHA:893
HP:0030791	Abnormal jaw morphology	7490	WT1	ORPHA:893
HP:0030791	Abnormal jaw morphology	627	BDNF	ORPHA:893
HP:0030791	Abnormal jaw morphology	84905	ZNF341	OMIM:618282
HP:0030791	Abnormal jaw morphology	1984	EIF5A	OMIM:619376
HP:0030791	Abnormal jaw morphology	5236	PGM1	OMIM:614921
HP:0030791	Abnormal jaw morphology	22800	RRAS2	ORPHA:648
HP:0030791	Abnormal jaw morphology	6016	RIT1	ORPHA:648
HP:0030791	Abnormal jaw morphology	6237	RRAS	ORPHA:648
HP:0030791	Abnormal jaw morphology	22808	MRAS	ORPHA:648
HP:0030791	Abnormal jaw morphology	200734	SPRED2	ORPHA:648
HP:0030791	Abnormal jaw morphology	4893	NRAS	ORPHA:648
HP:0030791	Abnormal jaw morphology	6654	SOS1	ORPHA:648
HP:0030791	Abnormal jaw morphology	6655	SOS2	ORPHA:648
HP:0030791	Abnormal jaw morphology	5922	RASA2	ORPHA:648
HP:0030791	Abnormal jaw morphology	23299	BICD2	OMIM:618291
HP:0030791	Abnormal jaw morphology	6913	TBX15	OMIM:260660
HP:0030791	Abnormal jaw morphology	871	SERPINH1	OMIM:613848
HP:0030791	Abnormal jaw morphology	2690	GHR	ORPHA:633
HP:0030791	Abnormal jaw morphology	121340	SP7	OMIM:613849
HP:0030791	Abnormal jaw morphology	11198	SUPT16H	ORPHA:261229
HP:0030791	Abnormal jaw morphology	83483	PLVAP	OMIM:618183
HP:0030791	Abnormal jaw morphology	10128	LRPPRC	OMIM:220111
HP:0030791	Abnormal jaw morphology	10491	CRTAP	ORPHA:2050
HP:0030791	Abnormal jaw morphology	775	CACNA1C	OMIM:620029
HP:0030791	Abnormal jaw morphology	55624	POMGNT1	OMIM:253280
HP:0030791	Abnormal jaw morphology	8854	ALDH1A2	OMIM:620025
HP:0030791	Abnormal jaw morphology	10274	STAG1	ORPHA:502434
HP:0030791	Abnormal jaw morphology	8443	GNPAT	OMIM:222765
HP:0030791	Abnormal jaw morphology	4703	NEB	ORPHA:171436
HP:0030791	Abnormal jaw morphology	4703	NEB	ORPHA:171439
HP:0030791	Abnormal jaw morphology	10324	KLHL41	ORPHA:171436
HP:0030791	Abnormal jaw morphology	10324	KLHL41	OMIM:615731
HP:0030791	Abnormal jaw morphology	10324	KLHL41	ORPHA:171439
HP:0030791	Abnormal jaw morphology	56203	LMOD3	ORPHA:171436
HP:0030791	Abnormal jaw morphology	1073	CFL2	ORPHA:171436
HP:0030791	Abnormal jaw morphology	22858	CILK1	OMIM:612651
HP:0030791	Abnormal jaw morphology	3483	IGFALS	ORPHA:140941
HP:0030791	Abnormal jaw morphology	283989	TSEN54	ORPHA:166063
HP:0030791	Abnormal jaw morphology	4633	MYL2	ORPHA:2020
HP:0030791	Abnormal jaw morphology	3679	ITGA7	ORPHA:2020
HP:0030791	Abnormal jaw morphology	9200	HACD1	ORPHA:2020
HP:0030791	Abnormal jaw morphology	7170	TPM3	ORPHA:2020
HP:0030791	Abnormal jaw morphology	7170	TPM3	ORPHA:171439
HP:0030791	Abnormal jaw morphology	51776	MAP3K20	ORPHA:2020
HP:0030791	Abnormal jaw morphology	29128	UHRF1	ORPHA:2268
HP:0030791	Abnormal jaw morphology	3070	HELLS	ORPHA:2268
HP:0030791	Abnormal jaw morphology	83879	CDCA7	ORPHA:2268
HP:0030791	Abnormal jaw morphology	3265	HRAS	OMIM:218040
HP:0030791	Abnormal jaw morphology	5826	ABCD4	OMIM:614857
HP:0030791	Abnormal jaw morphology	26227	PHGDH	OMIM:256520
HP:0030791	Abnormal jaw morphology	2615	LRRC32	OMIM:619074
HP:0030791	Abnormal jaw morphology	5828	PEX2	OMIM:614866
HP:0030791	Abnormal jaw morphology	5828	PEX2	ORPHA:912
HP:0030791	Abnormal jaw morphology	6804	STX1A	ORPHA:904
HP:0030791	Abnormal jaw morphology	7461	CLIP2	ORPHA:904
HP:0030791	Abnormal jaw morphology	84277	DNAJC30	ORPHA:904
HP:0030791	Abnormal jaw morphology	8468	FKBP6	ORPHA:904
HP:0030791	Abnormal jaw morphology	5982	RFC2	ORPHA:904
HP:0030791	Abnormal jaw morphology	2969	GTF2I	ORPHA:904
HP:0030791	Abnormal jaw morphology	3984	LIMK1	ORPHA:904
HP:0030791	Abnormal jaw morphology	9569	GTF2IRD1	ORPHA:904
HP:0030791	Abnormal jaw morphology	155382	VPS37D	ORPHA:904
HP:0030791	Abnormal jaw morphology	155368	METTL27	ORPHA:904
HP:0030791	Abnormal jaw morphology	114049	BUD23	ORPHA:904
HP:0030791	Abnormal jaw morphology	7458	EIF4H	ORPHA:904
HP:0030791	Abnormal jaw morphology	84163	GTF2IRD2	ORPHA:904
HP:0030791	Abnormal jaw morphology	26608	TBL2	ORPHA:904
HP:0030791	Abnormal jaw morphology	653361	NCF1	ORPHA:904
HP:0030791	Abnormal jaw morphology	135886	TMEM270	ORPHA:904
HP:0030791	Abnormal jaw morphology	9031	BAZ1B	ORPHA:904
HP:0030791	Abnormal jaw morphology	9289	ADGRG1	ORPHA:98889
HP:0030791	Abnormal jaw morphology	27286	SRPX2	ORPHA:98889
HP:0030791	Abnormal jaw morphology	10236	HNRNPR	OMIM:620073
HP:0030791	Abnormal jaw morphology	51611	DPH5	OMIM:620070
HP:0030791	Abnormal jaw morphology	5700	PSMC1	OMIM:620071
HP:0030791	Abnormal jaw morphology	728294	D2HGDH	OMIM:600721
HP:0030791	Abnormal jaw morphology	6628	SNRPB	ORPHA:1393
HP:0030791	Abnormal jaw morphology	6628	SNRPB	OMIM:117650
HP:0030791	Abnormal jaw morphology	5594	MAPK1	OMIM:619087
HP:0030791	Abnormal jaw morphology	1654	DDX3X	ORPHA:3338
HP:0030791	Abnormal jaw morphology	1028	CDKN1C	ORPHA:397590
HP:0030791	Abnormal jaw morphology	5324	PLAG1	ORPHA:397590
HP:0030791	Abnormal jaw morphology	2065	ERBB3	OMIM:607598
HP:0030791	Abnormal jaw morphology	81031	SLC2A10	OMIM:208050
HP:0030791	Abnormal jaw morphology	7140	TNNT3	ORPHA:1147
HP:0030791	Abnormal jaw morphology	8504	PEX3	OMIM:614882
HP:0030791	Abnormal jaw morphology	8504	PEX3	ORPHA:912
HP:0030791	Abnormal jaw morphology	84665	MYPN	ORPHA:171439
HP:0030791	Abnormal jaw morphology	390594	KBTBD13	ORPHA:171439
HP:0030791	Abnormal jaw morphology	50628	GEMIN4	OMIM:617913
HP:0030791	Abnormal jaw morphology	84570	COL25A1	ORPHA:1143
HP:0030791	Abnormal jaw morphology	57222	ERGIC1	ORPHA:1143
HP:0030791	Abnormal jaw morphology	5195	PEX14	OMIM:614887
HP:0030791	Abnormal jaw morphology	5195	PEX14	ORPHA:912
HP:0030791	Abnormal jaw morphology	1297	COL9A1	ORPHA:250984
HP:0030791	Abnormal jaw morphology	1298	COL9A2	ORPHA:250984
HP:0030791	Abnormal jaw morphology	1299	COL9A3	ORPHA:250984
HP:0030791	Abnormal jaw morphology	1144	CHRND	OMIM:253290
HP:0030791	Abnormal jaw morphology	55670	PEX26	ORPHA:912
HP:0030791	Abnormal jaw morphology	5824	PEX19	ORPHA:912
HP:0030791	Abnormal jaw morphology	8799	PEX11B	ORPHA:912
HP:0030791	Abnormal jaw morphology	9409	PEX16	ORPHA:912
HP:0030791	Abnormal jaw morphology	5190	PEX6	ORPHA:912
HP:0030791	Abnormal jaw morphology	5193	PEX12	ORPHA:912
HP:0030791	Abnormal jaw morphology	5194	PEX13	ORPHA:912
HP:0030791	Abnormal jaw morphology	5192	PEX10	ORPHA:912
HP:0030791	Abnormal jaw morphology	9780	PIEZO1	OMIM:616843
HP:0030791	Abnormal jaw morphology	85358	SHANK3	OMIM:606232
HP:0030791	Abnormal jaw morphology	113179	ADAT3	ORPHA:363528
HP:0030791	Abnormal jaw morphology	10525	HYOU1	OMIM:233600
HP:0030791	Abnormal jaw morphology	55784	MCTP2	ORPHA:1596
HP:0030791	Abnormal jaw morphology	91869	RFT1	OMIM:612015
HP:0030791	Abnormal jaw morphology	5053	PAH	ORPHA:2209
HP:0030791	Abnormal jaw morphology	4297	KMT2A	OMIM:605130
HP:0030791	Abnormal jaw morphology	101929726	MYMX	ORPHA:1358
HP:0030791	Abnormal jaw morphology	101929726	MYMX	OMIM:619941
HP:0030791	Abnormal jaw morphology	4204	MECP2	OMIM:300055
HP:0030791	Abnormal jaw morphology	10265	IRX5	OMIM:611174
HP:0030791	Abnormal jaw morphology	5925	RB1	ORPHA:1587
HP:0030791	Abnormal jaw morphology	55603	TENT5A	OMIM:617952
HP:0030791	Abnormal jaw morphology	1063	CENPF	OMIM:243605
HP:0030791	Abnormal jaw morphology	2186	BPTF	ORPHA:529962
HP:0030791	Abnormal jaw morphology	2186	BPTF	OMIM:617755
HP:0030791	Abnormal jaw morphology	84342	COG8	OMIM:611182
HP:0030791	Abnormal jaw morphology	57572	DOCK6	OMIM:614219
HP:0030791	Abnormal jaw morphology	29980	DONSON	OMIM:251230
HP:0030791	Abnormal jaw morphology	4659	PPP1R12A	OMIM:618820
HP:0030791	Abnormal jaw morphology	91461	PKDCC	OMIM:618821
HP:0030791	Abnormal jaw morphology	285175	UNC80	ORPHA:371364
HP:0030791	Abnormal jaw morphology	8405	SPOP	OMIM:618829
HP:0030791	Abnormal jaw morphology	202018	TAPT1	OMIM:616897
HP:0030791	Abnormal jaw morphology	2767	GNA11	ORPHA:1556
HP:0030791	Abnormal jaw morphology	151188	ARL6IP6	ORPHA:1556
HP:0030791	Abnormal jaw morphology	440	ASNS	OMIM:615574
HP:0030791	Abnormal jaw morphology	55023	PHIP	OMIM:617991
HP:0030791	Abnormal jaw morphology	7476	WNT7A	ORPHA:2879
HP:0030791	Abnormal jaw morphology	4848	CNOT2	OMIM:618608
HP:0030791	Abnormal jaw morphology	23529	CLCF1	ORPHA:1545
HP:0030791	Abnormal jaw morphology	221927	BRAT1	OMIM:614498
HP:0030791	Abnormal jaw morphology	6736	SRY	ORPHA:1772
HP:0030791	Abnormal jaw morphology	5604	MAP2K1	OMIM:163950
HP:0030791	Abnormal jaw morphology	25	ABL1	OMIM:617602
HP:0030791	Abnormal jaw morphology	3166	HMX1	OMIM:612109
HP:0030791	Abnormal jaw morphology	2316	FLNA	OMIM:309350
HP:0030791	Abnormal jaw morphology	1513	CTSK	ORPHA:763
HP:0030791	Abnormal jaw morphology	203859	ANO5	ORPHA:53697
HP:0030791	Abnormal jaw morphology	1186	CLCN7	ORPHA:53
HP:0030791	Abnormal jaw morphology	1186	CLCN7	OMIM:166600
HP:0030791	Abnormal jaw morphology	2261	FGFR3	ORPHA:85165
HP:0030791	Abnormal jaw morphology	2131	EXT1	ORPHA:502
HP:0030791	Abnormal jaw morphology	5885	RAD21	ORPHA:502
HP:0030791	Abnormal jaw morphology	7227	TRPS1	ORPHA:502
HP:0030791	Abnormal jaw morphology	3664	IRF6	ORPHA:1300
HP:0030791	Abnormal jaw morphology	3664	IRF6	OMIM:119500
HP:0030791	Abnormal jaw morphology	5015	OTX2	ORPHA:990
HP:0030791	Abnormal jaw morphology	1289	COL5A1	ORPHA:287
HP:0030791	Abnormal jaw morphology	1290	COL5A2	ORPHA:287
HP:0030791	Abnormal jaw morphology	6775	STAT4	ORPHA:85408
HP:0030791	Abnormal jaw morphology	3560	IL2RB	ORPHA:85408
HP:0030791	Abnormal jaw morphology	79722	ANKRD55	ORPHA:85408
HP:0030791	Abnormal jaw morphology	26191	PTPN22	ORPHA:85408
HP:0030791	Abnormal jaw morphology	919	CD247	ORPHA:85408
HP:0030791	Abnormal jaw morphology	3559	IL2RA	ORPHA:85408
HP:0030791	Abnormal jaw morphology	5771	PTPN2	ORPHA:85408
HP:0030791	Abnormal jaw morphology	5332	PLCB4	ORPHA:137888
HP:0030791	Abnormal jaw morphology	2773	GNAI3	ORPHA:137888
HP:0030791	Abnormal jaw morphology	3908	LAMA2	ORPHA:258
HP:0030791	Abnormal jaw morphology	7050	TGIF1	OMIM:142946
HP:0030791	Abnormal jaw morphology	6496	SIX3	OMIM:157170
HP:0030791	Abnormal jaw morphology	5965	RECQL	OMIM:620370
HP:0030791	Abnormal jaw morphology	78989	COLEC11	OMIM:265050
HP:0030791	Abnormal jaw morphology	3423	IDS	ORPHA:217085
HP:0030791	Abnormal jaw morphology	3423	IDS	ORPHA:217093
HP:0030791	Abnormal jaw morphology	23230	VPS13A	ORPHA:2388
HP:0030791	Abnormal jaw morphology	60482	SLC5A7	ORPHA:98914
HP:0030791	Abnormal jaw morphology	4649	MYO9A	ORPHA:98914
HP:0030791	Abnormal jaw morphology	1103	CHAT	ORPHA:98914
HP:0030791	Abnormal jaw morphology	6576	SLC25A1	ORPHA:98914
HP:0030791	Abnormal jaw morphology	6843	VAMP1	ORPHA:98914
HP:0030791	Abnormal jaw morphology	375790	AGRN	ORPHA:98914
HP:0030791	Abnormal jaw morphology	127833	SYT2	ORPHA:98914
HP:0030791	Abnormal jaw morphology	6572	SLC18A3	ORPHA:98914
HP:0030791	Abnormal jaw morphology	6616	SNAP25	ORPHA:98914
HP:0030791	Abnormal jaw morphology	8812	CCNK	OMIM:618147
HP:0030791	Abnormal jaw morphology	79753	SNIP1	OMIM:614501
HP:0030791	Abnormal jaw morphology	9839	ZEB2	ORPHA:261552
HP:0030791	Abnormal jaw morphology	23102	TBC1D2B	OMIM:619323
HP:0030791	Abnormal jaw morphology	1272	CNTN1	OMIM:612540
HP:0030791	Abnormal jaw morphology	8815	BANF1	OMIM:614008
HP:0030791	Abnormal jaw morphology	26137	ZBTB20	OMIM:259050
HP:0030791	Abnormal jaw morphology	3845	KRAS	OMIM:600268
HP:0030791	Abnormal jaw morphology	79577	CDC73	ORPHA:143
HP:0030791	Abnormal jaw morphology	79577	CDC73	ORPHA:99880
HP:0030791	Abnormal jaw morphology	6335	SCN9A	OMIM:167400
HP:0030791	Abnormal jaw morphology	157570	ESCO2	OMIM:268300
HP:0030791	Abnormal jaw morphology	79759	ZNF668	OMIM:620194
HP:0030791	Abnormal jaw morphology	6660	SOX5	ORPHA:313892
HP:0030791	Abnormal jaw morphology	80232	WDR26	ORPHA:513456
HP:0030791	Abnormal jaw morphology	80232	WDR26	OMIM:617616
HP:0030791	Abnormal jaw morphology	1173	AP2M1	OMIM:618587
HP:0030791	Abnormal jaw morphology	3043	HBB	ORPHA:231226
HP:0030791	Abnormal jaw morphology	3043	HBB	ORPHA:231214
HP:0030791	Abnormal jaw morphology	27107	ZBTB11	OMIM:618383
HP:0030791	Abnormal jaw morphology	55084	SOBP	OMIM:613671
HP:0030791	Abnormal jaw morphology	25942	SIN3A	OMIM:613406
HP:0030790	Abnormal cerumen color	3081	HGD	OMIM:203500
HP:0030799	Scaphocephaly	2737	GLI3	ORPHA:672
HP:0030799	Scaphocephaly	2737	GLI3	OMIM:175700
HP:0030799	Scaphocephaly	56992	KIF15	ORPHA:261323
HP:0030799	Scaphocephaly	199857	ALG14	OMIM:619036
HP:0030799	Scaphocephaly	51256	TBC1D7	OMIM:248000
HP:0030799	Scaphocephaly	3423	IDS	OMIM:309900
HP:0030799	Scaphocephaly	3590	IL11RA	OMIM:614188
HP:0030799	Scaphocephaly	1272	CNTN1	OMIM:612540
HP:0030799	Scaphocephaly	7291	TWIST1	OMIM:123100
HP:0030799	Scaphocephaly	3572	IL6ST	OMIM:618523
HP:0030799	Scaphocephaly	1801	DPH1	OMIM:616901
HP:0030799	Scaphocephaly	1801	DPH1	ORPHA:459061
HP:0030799	Scaphocephaly	11133	KPTN	OMIM:615637
HP:0030799	Scaphocephaly	11133	KPTN	ORPHA:397612
HP:0030799	Scaphocephaly	55681	SCYL2	ORPHA:1143
HP:0030799	Scaphocephaly	84570	COL25A1	ORPHA:1143
HP:0030799	Scaphocephaly	57222	ERGIC1	ORPHA:1143
HP:0030799	Scaphocephaly	5824	PEX19	OMIM:614886
HP:0030799	Scaphocephaly	5557	PRIM1	OMIM:620005
HP:0030799	Scaphocephaly	3295	HSD17B4	OMIM:261515
HP:0030799	Scaphocephaly	3845	KRAS	OMIM:609942
HP:0030799	Scaphocephaly	4784	NFIX	ORPHA:420179
HP:0030799	Scaphocephaly	55764	IFT122	OMIM:218330
HP:0030799	Scaphocephaly	6261	RYR1	OMIM:619542
HP:0030799	Scaphocephaly	55553	SOX6	OMIM:618971
HP:0030799	Scaphocephaly	372	ARCN1	OMIM:617164
HP:0030799	Scaphocephaly	9742	IFT140	OMIM:266920
HP:0030799	Scaphocephaly	91179	SCARF2	OMIM:600920
HP:0030799	Scaphocephaly	27161	AGO2	OMIM:619149
HP:0030799	Scaphocephaly	80816	ASXL3	OMIM:615485
HP:0030799	Scaphocephaly	112752	IFT43	OMIM:614099
HP:0030799	Scaphocephaly	10293	TRAIP	OMIM:616777
HP:0030799	Scaphocephaly	2137	EXTL3	OMIM:617425
HP:0030799	Scaphocephaly	23545	ATP6V0A2	OMIM:278250
HP:0030799	Scaphocephaly	2201	FBN2	OMIM:121050
HP:0030799	Scaphocephaly	55753	OGDHL	OMIM:619701
HP:0030799	Scaphocephaly	55623	THUMPD1	OMIM:619989
HP:0030799	Scaphocephaly	26834	RNU4-2	OMIM:620851
HP:0030799	Scaphocephaly	2200	FBN1	OMIM:616914
HP:0030799	Scaphocephaly	1802	DPH2	ORPHA:459061
HP:0030799	Scaphocephaly	6329	SCN4A	OMIM:620351
HP:0030799	Scaphocephaly	3762	KCNJ5	ORPHA:37553
HP:0030799	Scaphocephaly	3759	KCNJ2	ORPHA:37553
HP:0030799	Scaphocephaly	64864	RFX7	OMIM:620330
HP:0003745	Sporadic	5290	PIK3CA	OMIM:612918
HP:0003745	Sporadic	5290	PIK3CA	OMIM:602501
HP:0003745	Sporadic	2776	GNAQ	OMIM:185300
HP:0003745	Sporadic	26277	TINF2	OMIM:268130
HP:0003745	Sporadic	6208	RPS14	OMIM:153550
HP:0003745	Sporadic	2290	FOXG1	OMIM:613454
HP:0003745	Sporadic	2778	GNAS	OMIM:219080
HP:0003745	Sporadic	2778	GNAS	OMIM:603233
HP:0003745	Sporadic	5156	PDGFRA	OMIM:607685
HP:0003745	Sporadic	4774	NFIA	OMIM:613735
HP:0003745	Sporadic	85358	SHANK3	OMIM:606232
HP:0003745	Sporadic	27235	COQ2	OMIM:146500
HP:0003745	Sporadic	23384	SPECC1L	OMIM:600251
HP:0003745	Sporadic	100033413	SNORD116-1	OMIM:176270
HP:0003745	Sporadic	8924	HERC2	OMIM:176270
HP:0003745	Sporadic	23742	NPAP1	OMIM:176270
HP:0003745	Sporadic	338433	SNORD115-1	OMIM:176270
HP:0003745	Sporadic	54551	MAGEL2	OMIM:176270
HP:0003745	Sporadic	7681	MKRN3	OMIM:176270
HP:0003745	Sporadic	145624	PWAR1	OMIM:176270
HP:0003745	Sporadic	3653	IPW	OMIM:176270
HP:0003745	Sporadic	791114	PWRN1	OMIM:176270
HP:0003745	Sporadic	149775	GNAS-AS1	OMIM:603233
HP:0003745	Sporadic	8675	STX16	OMIM:603233
HP:0003745	Sporadic	23095	KIF1B	OMIM:256700
HP:0003745	Sporadic	5048	PAFAH1B1	OMIM:607432
HP:0003745	Sporadic	6197	RPS6KA3	OMIM:303600
HP:0003745	Sporadic	51816	ADA2	OMIM:182410
HP:0003745	Sporadic	4784	NFIX	OMIM:602535
HP:0003745	Sporadic	201163	FLCN	OMIM:610883
HP:0003745	Sporadic	201163	FLCN	OMIM:144700
HP:0003745	Sporadic	3481	IGF2	OMIM:180860
HP:0003745	Sporadic	2317	FLNB	OMIM:108720
HP:0003745	Sporadic	39	ACAT2	OMIM:614055
HP:0003745	Sporadic	6638	SNRPN	OMIM:209850
HP:0003745	Sporadic	6638	SNRPN	OMIM:105830
HP:0003745	Sporadic	7253	TSHR	OMIM:609152
HP:0003745	Sporadic	2260	FGFR1	OMIM:613001
HP:0003745	Sporadic	79813	EHMT1	OMIM:610253
HP:0003745	Sporadic	55636	CHD7	OMIM:214800
HP:0003745	Sporadic	25942	SIN3A	OMIM:613406
HP:0003745	Sporadic	10382	TUBB4A	OMIM:612438
HP:0003745	Sporadic	7468	NSD2	OMIM:194190
HP:0003745	Sporadic	10815	CPLX1	OMIM:194190
HP:0003745	Sporadic	1487	CTBP1	OMIM:194190
HP:0003745	Sporadic	53834	FGFRL1	OMIM:194190
HP:0003745	Sporadic	3954	LETM1	OMIM:194190
HP:0003745	Sporadic	3664	IRF6	OMIM:608864
HP:0003745	Sporadic	3265	HRAS	OMIM:218040
HP:0003745	Sporadic	3265	HRAS	OMIM:163200
HP:0003745	Sporadic	9791	PTDSS1	OMIM:151050
HP:0003745	Sporadic	1816	DRD5	OMIM:606798
HP:0003745	Sporadic	4609	MYC	OMIM:113970
HP:0003745	Sporadic	5663	PSEN1	OMIM:172700
HP:0003745	Sporadic	4137	MAPT	OMIM:172700
HP:0003745	Sporadic	4137	MAPT	OMIM:168600
HP:0003745	Sporadic	2033	EP300	OMIM:180849
HP:0003745	Sporadic	2033	EP300	OMIM:613684
HP:0003745	Sporadic	1387	CREBBP	OMIM:180849
HP:0003745	Sporadic	50937	CDON	OMIM:614226
HP:0003745	Sporadic	5925	RB1	OMIM:180200
HP:0003745	Sporadic	7337	UBE3A	OMIM:105830
HP:0003745	Sporadic	4893	NRAS	OMIM:163200
HP:0003745	Sporadic	4893	NRAS	OMIM:249400
HP:0003745	Sporadic	3845	KRAS	OMIM:163200
HP:0003745	Sporadic	2736	GLI2	OMIM:610829
HP:0003745	Sporadic	26137	ZBTB20	OMIM:259050
HP:0003745	Sporadic	779	CACNA1S	OMIM:188580
HP:0003745	Sporadic	207	AKT1	OMIM:176920
HP:0003745	Sporadic	5832	ALDH18A1	OMIM:219150
HP:0003745	Sporadic	7341	SUMO1	OMIM:613705
HP:0003745	Sporadic	8915	BCL10	OMIM:273300
HP:0003745	Sporadic	2261	FGFR3	OMIM:273300
HP:0003745	Sporadic	3815	KIT	OMIM:273300
HP:0003745	Sporadic	3815	KIT	OMIM:606764
HP:0003745	Sporadic	6794	STK11	OMIM:273300
HP:0003745	Sporadic	6497	SKI	OMIM:182212
HP:0003745	Sporadic	3123	HLA-DRB1	OMIM:181000
HP:0003745	Sporadic	57502	NLGN4X	OMIM:300495
HP:0003745	Sporadic	5604	MAP2K1	OMIM:155950
HP:0003745	Sporadic	10743	RAI1	OMIM:182290
HP:0003745	Sporadic	3717	JAK2	OMIM:263300
HP:0003745	Sporadic	25836	NIPBL	OMIM:122470
HP:0003745	Sporadic	55193	PBRM1	OMIM:144700
HP:0003745	Sporadic	6927	HNF1A	OMIM:144700
HP:0003745	Sporadic	7428	VHL	OMIM:144700
HP:0003745	Sporadic	4968	OGG1	OMIM:144700
HP:0003745	Sporadic	11236	RNF139	OMIM:144700
HP:0003745	Sporadic	6928	HNF1B	OMIM:144700
HP:0003745	Sporadic	6496	SIX3	OMIM:157170
HP:0003745	Sporadic	2475	MTOR	OMIM:607341
HP:0003745	Sporadic	7248	TSC1	OMIM:607341
HP:0003745	Sporadic	7249	TSC2	OMIM:607341
HP:0003745	Sporadic	257	ALX3	OMIM:136760
HP:0003745	Sporadic	6390	SDHB	OMIM:606764
HP:0003745	Sporadic	6391	SDHC	OMIM:606764
HP:0003745	Sporadic	84823	LMNB2	OMIM:608709
HP:0003745	Sporadic	2703	GJA8	OMIM:612474
HP:0003745	Sporadic	2702	GJA5	OMIM:612474
HP:0003745	Sporadic	4208	MEF2C	OMIM:613443
HP:0003745	Sporadic	4287	ATXN3	OMIM:168600
HP:0003745	Sporadic	2629	GBA1	OMIM:168600
HP:0003745	Sporadic	126	ADH1C	OMIM:168600
HP:0003745	Sporadic	4576	MT-TT	OMIM:168600
HP:0003745	Sporadic	9627	SNCAIP	OMIM:168600
HP:0003745	Sporadic	6908	TBP	OMIM:168600
HP:0003745	Sporadic	4929	NR4A2	OMIM:168600
HP:0003745	Sporadic	6311	ATXN2	OMIM:168600
HP:0003745	Sporadic	6315	ATXN8OS	OMIM:168600
HP:0001421	Abnormality of the musculature of the hand	6138	RPL15	ORPHA:124
HP:0001421	Abnormality of the musculature of the hand	6224	RPS20	ORPHA:124
HP:0001421	Abnormality of the musculature of the hand	6165	RPL35A	ORPHA:124
HP:0001421	Abnormality of the musculature of the hand	6132	RPL8	ORPHA:124
HP:0001421	Abnormality of the musculature of the hand	6223	RPS19	ORPHA:124
HP:0001421	Abnormality of the musculature of the hand	6232	RPS27	ORPHA:124
HP:0001421	Abnormality of the musculature of the hand	55027	HEATR3	ORPHA:124
HP:0001421	Abnormality of the musculature of the hand	6160	RPL31	ORPHA:124
HP:0001421	Abnormality of the musculature of the hand	6201	RPS7	ORPHA:124
HP:0001421	Abnormality of the musculature of the hand	6155	RPL27	ORPHA:124
HP:0001421	Abnormality of the musculature of the hand	6234	RPS28	ORPHA:124
HP:0001421	Abnormality of the musculature of the hand	6135	RPL11	ORPHA:124
HP:0001421	Abnormality of the musculature of the hand	6229	RPS24	ORPHA:124
HP:0001421	Abnormality of the musculature of the hand	6125	RPL5	ORPHA:124
HP:0001421	Abnormality of the musculature of the hand	6204	RPS10	ORPHA:124
HP:0001421	Abnormality of the musculature of the hand	2623	GATA1	ORPHA:124
HP:0001421	Abnormality of the musculature of the hand	6133	RPL9	ORPHA:124
HP:0001421	Abnormality of the musculature of the hand	6231	RPS26	ORPHA:124
HP:0001421	Abnormality of the musculature of the hand	11224	RPL35	ORPHA:124
HP:0001421	Abnormality of the musculature of the hand	6218	RPS17	ORPHA:124
HP:0001421	Abnormality of the musculature of the hand	6154	RPL26	ORPHA:124
HP:0001421	Abnormality of the musculature of the hand	6210	RPS15A	ORPHA:124
HP:0001421	Abnormality of the musculature of the hand	90121	TSR2	ORPHA:124
HP:0001421	Abnormality of the musculature of the hand	6141	RPL18	ORPHA:124
HP:0001421	Abnormality of the musculature of the hand	6235	RPS29	ORPHA:124
HP:0001421	Abnormality of the musculature of the hand	51816	ADA2	ORPHA:124
HP:0001421	Abnormality of the musculature of the hand	6910	TBX5	OMIM:142900
HP:0001421	Abnormality of the musculature of the hand	11117	EMILIN1	OMIM:620080
HP:0001421	Abnormality of the musculature of the hand	5889	RAD51C	OMIM:613390
HP:0001421	Abnormality of the musculature of the hand	9775	EIF4A3	OMIM:268305
HP:0001421	Abnormality of the musculature of the hand	57167	SALL4	OMIM:147750
HP:0001421	Abnormality of the musculature of the hand	57167	SALL4	OMIM:607323
HP:0001421	Abnormality of the musculature of the hand	23291	FBXW11	OMIM:618914
HP:0001421	Abnormality of the musculature of the hand	2263	FGFR2	OMIM:149730
HP:0001421	Abnormality of the musculature of the hand	3209	HOXA13	OMIM:140000
HP:0001421	Abnormality of the musculature of the hand	121512	FGD4	OMIM:609311
HP:0001421	Abnormality of the musculature of the hand	2617	GARS1	OMIM:600794
HP:0001421	Abnormality of the musculature of the hand	2617	GARS1	ORPHA:139536
HP:0001421	Abnormality of the musculature of the hand	2617	GARS1	OMIM:601472
HP:0001421	Abnormality of the musculature of the hand	1311	COMP	OMIM:619161
HP:0001421	Abnormality of the musculature of the hand	91252	SLC39A13	ORPHA:157965
HP:0001421	Abnormality of the musculature of the hand	91252	SLC39A13	OMIM:612350
HP:0001421	Abnormality of the musculature of the hand	8985	PLOD3	OMIM:612394
HP:0001421	Abnormality of the musculature of the hand	8884	SLC5A6	OMIM:619903
HP:0001421	Abnormality of the musculature of the hand	3710	ITPR3	OMIM:620111
HP:0001421	Abnormality of the musculature of the hand	3425	IDUA	OMIM:607015
HP:0001421	Abnormality of the musculature of the hand	9898	UBAP2L	OMIM:620494
HP:0001421	Abnormality of the musculature of the hand	80208	SPG11	OMIM:604360
HP:0001421	Abnormality of the musculature of the hand	8729	GBF1	OMIM:606483
HP:0001421	Abnormality of the musculature of the hand	284058	KANSL1	OMIM:610443
HP:0001421	Abnormality of the musculature of the hand	2316	FLNA	ORPHA:1826
HP:0001421	Abnormality of the musculature of the hand	6885	MAP3K7	ORPHA:1826
HP:0001421	Abnormality of the musculature of the hand	55768	NGLY1	OMIM:615273
HP:0001421	Abnormality of the musculature of the hand	23321	TRIM2	OMIM:615490
HP:0001421	Abnormality of the musculature of the hand	182	JAG1	OMIM:619574
HP:0001421	Abnormality of the musculature of the hand	2318	FLNC	ORPHA:63273
HP:0001421	Abnormality of the musculature of the hand	374969	SVBP	OMIM:618569
HP:0001421	Abnormality of the musculature of the hand	8878	SQSTM1	ORPHA:603
HP:0001421	Abnormality of the musculature of the hand	7072	TIA1	ORPHA:603
HP:0001421	Abnormality of the musculature of the hand	9990	SLC12A6	OMIM:620068
HP:0001421	Abnormality of the musculature of the hand	10558	SPTLC1	OMIM:620285
HP:0001421	Abnormality of the musculature of the hand	1678	TIMM8A	OMIM:304700
HP:0001421	Abnormality of the musculature of the hand	6261	RYR1	ORPHA:178145
HP:0001421	Abnormality of the musculature of the hand	547	KIF1A	OMIM:614213
HP:0001421	Abnormality of the musculature of the hand	57716	PRX	OMIM:614895
HP:0001421	Abnormality of the musculature of the hand	400916	CHCHD10	ORPHA:276435
HP:0001421	Abnormality of the musculature of the hand	4359	MPZ	ORPHA:3115
HP:0001421	Abnormality of the musculature of the hand	55958	KLHL9	ORPHA:399081
HP:0001421	Abnormality of the musculature of the hand	3094	HINT1	ORPHA:324442
HP:0001421	Abnormality of the musculature of the hand	10280	SIGMAR1	OMIM:614373
HP:0001421	Abnormality of the musculature of the hand	8291	DYSF	ORPHA:178400
HP:0001421	Abnormality of the musculature of the hand	7415	VCP	ORPHA:329478
HP:0001421	Abnormality of the musculature of the hand	7415	VCP	OMIM:616687
HP:0001421	Abnormality of the musculature of the hand	81545	FBXO38	OMIM:615575
HP:0001421	Abnormality of the musculature of the hand	57863	CADM3	OMIM:619519
HP:0001421	Abnormality of the musculature of the hand	4358	MPV17	OMIM:256810
HP:0001421	Abnormality of the musculature of the hand	4703	NEB	ORPHA:399103
HP:0001421	Abnormality of the musculature of the hand	859	CAV3	ORPHA:488650
HP:0001421	Abnormality of the musculature of the hand	11155	LDB3	ORPHA:98912
HP:0001421	Abnormality of the musculature of the hand	6329	SCN4A	ORPHA:98913
HP:0001421	Abnormality of the musculature of the hand	1134	CHRNA1	ORPHA:98913
HP:0001421	Abnormality of the musculature of the hand	4038	LRP4	ORPHA:98913
HP:0001421	Abnormality of the musculature of the hand	1305	COL13A1	ORPHA:98913
HP:0001421	Abnormality of the musculature of the hand	1140	CHRNB1	ORPHA:98913
HP:0001421	Abnormality of the musculature of the hand	1144	CHRND	ORPHA:98913
HP:0001421	Abnormality of the musculature of the hand	1145	CHRNE	ORPHA:98913
HP:0001421	Abnormality of the musculature of the hand	4593	MUSK	ORPHA:98913
HP:0001421	Abnormality of the musculature of the hand	5913	RAPSN	ORPHA:98913
HP:0001421	Abnormality of the musculature of the hand	375790	AGRN	ORPHA:98913
HP:0001421	Abnormality of the musculature of the hand	221264	AK9	ORPHA:98913
HP:0001421	Abnormality of the musculature of the hand	285489	DOK7	ORPHA:98913
HP:0001421	Abnormality of the musculature of the hand	4151	MB	OMIM:620286
HP:0001421	Abnormality of the musculature of the hand	6786	STIM1	OMIM:160565
HP:0001421	Abnormality of the musculature of the hand	7273	TTN	ORPHA:609
HP:0001421	Abnormality of the musculature of the hand	10020	GNE	ORPHA:602
HP:0001421	Abnormality of the musculature of the hand	4625	MYH7	OMIM:160500
HP:0001421	Abnormality of the musculature of the hand	9997	SCO2	OMIM:604377
HP:0001421	Abnormality of the musculature of the hand	4141	MARS1	OMIM:616280
HP:0001421	Abnormality of the musculature of the hand	26580	BSCL2	ORPHA:100998
HP:0001421	Abnormality of the musculature of the hand	57679	ALS2	OMIM:205100
HP:0001421	Abnormality of the musculature of the hand	59341	TRPV4	OMIM:606071
HP:0001421	Abnormality of the musculature of the hand	58	ACTA1	OMIM:616852
HP:0001421	Abnormality of the musculature of the hand	10342	TFG	OMIM:615658
HP:0001421	Abnormality of the musculature of the hand	5376	PMP22	ORPHA:90658
HP:0001421	Abnormality of the musculature of the hand	89874	SLC25A21	OMIM:618811
HP:0001421	Abnormality of the musculature of the hand	170689	ADAMTS15	OMIM:620545
HP:0001421	Abnormality of the musculature of the hand	54332	GDAP1	ORPHA:99944
HP:0001421	Abnormality of the musculature of the hand	1639	DCTN1	OMIM:607641
HP:0001421	Abnormality of the musculature of the hand	4000	LMNA	ORPHA:98856
HP:0001421	Abnormality of the musculature of the hand	4747	NEFL	OMIM:607684
HP:0001421	Abnormality of the musculature of the hand	4747	NEFL	ORPHA:101085
HP:0001421	Abnormality of the musculature of the hand	113278	SLC52A3	OMIM:211530
HP:0001421	Abnormality of the musculature of the hand	2395	FXN	ORPHA:95
HP:0001421	Abnormality of the musculature of the hand	29926	GMPPA	ORPHA:869
HP:0001421	Abnormality of the musculature of the hand	60684	TRAPPC11	ORPHA:869
HP:0001421	Abnormality of the musculature of the hand	8086	AAAS	ORPHA:869
HP:0001421	Abnormality of the musculature of the hand	23299	BICD2	ORPHA:363454
HP:0001421	Abnormality of the musculature of the hand	65055	REEP1	ORPHA:101011
HP:0001421	Abnormality of the musculature of the hand	8988	HSPB3	OMIM:613376
HP:0001421	Abnormality of the musculature of the hand	9782	MATR3	OMIM:606070
HP:0001421	Abnormality of the musculature of the hand	57104	PNPLA2	ORPHA:98908
HP:0001421	Abnormality of the musculature of the hand	5165	PDK3	OMIM:300905
HP:0001421	Abnormality of the musculature of the hand	81846	SBF2	ORPHA:99956
HP:0001421	Abnormality of the musculature of the hand	7084	TK2	ORPHA:254886
HP:0001421	Abnormality of the musculature of the hand	5428	POLG	ORPHA:254886
HP:0001421	Abnormality of the musculature of the hand	2705	GJB1	OMIM:302800
HP:0001421	Abnormality of the musculature of the hand	2992	GYG1	OMIM:616199
HP:0001421	Abnormality of the musculature of the hand	22880	MORC2	ORPHA:466768
HP:0001421	Abnormality of the musculature of the hand	3035	HARS1	ORPHA:488333
HP:0001421	Abnormality of the musculature of the hand	8292	COLQ	ORPHA:98915
HP:0001421	Abnormality of the musculature of the hand	3913	LAMB2	ORPHA:98915
HP:0001421	Abnormality of the musculature of the hand	10073	SNUPN	OMIM:620793
HP:0001421	Abnormality of the musculature of the hand	9927	MFN2	ORPHA:99947
HP:0001421	Abnormality of the musculature of the hand	8565	YARS1	OMIM:608323
HP:0001423	X-linked dominant inheritance	265	AMELX	OMIM:301200
HP:0001423	X-linked dominant inheritance	8243	SMC1A	OMIM:300590
HP:0001423	X-linked dominant inheritance	8243	SMC1A	OMIM:301044
HP:0001423	X-linked dominant inheritance	64840	PORCN	OMIM:305600
HP:0001423	X-linked dominant inheritance	55906	ZC4H2	OMIM:301041
HP:0001423	X-linked dominant inheritance	1947	EFNB1	OMIM:304110
HP:0001423	X-linked dominant inheritance	6792	CDKL5	OMIM:300672
HP:0001423	X-linked dominant inheritance	1730	DIAPH2	OMIM:300511
HP:0001423	X-linked dominant inheritance	340533	NEXMIF	OMIM:300912
HP:0001423	X-linked dominant inheritance	1183	CLCN4	OMIM:300114
HP:0001423	X-linked dominant inheritance	212	ALAS2	OMIM:300752
HP:0001423	X-linked dominant inheritance	54539	NDUFB11	OMIM:309801
HP:0001423	X-linked dominant inheritance	54539	NDUFB11	OMIM:300952
HP:0001423	X-linked dominant inheritance	1349	COX7B	OMIM:309801
HP:0001423	X-linked dominant inheritance	1349	COX7B	OMIM:300887
HP:0001423	X-linked dominant inheritance	3052	HCCS	OMIM:309801
HP:0001423	X-linked dominant inheritance	3028	HSD17B10	OMIM:300438
HP:0001423	X-linked dominant inheritance	7737	RNF113A	OMIM:300953
HP:0001423	X-linked dominant inheritance	92002	CCNQ	OMIM:300707
HP:0001423	X-linked dominant inheritance	8573	CASK	OMIM:300908
HP:0001423	X-linked dominant inheritance	8573	CASK	OMIM:300749
HP:0001423	X-linked dominant inheritance	2539	G6PD	OMIM:300908
HP:0001423	X-linked dominant inheritance	5165	PDK3	OMIM:300905
HP:0001423	X-linked dominant inheritance	546	ATRX	OMIM:301040
HP:0001423	X-linked dominant inheritance	6736	SRY	OMIM:400045
HP:0001423	X-linked dominant inheritance	51284	TLR7	OMIM:301080
HP:0001423	X-linked dominant inheritance	2316	FLNA	OMIM:300244
HP:0001423	X-linked dominant inheritance	2316	FLNA	OMIM:300049
HP:0001423	X-linked dominant inheritance	2316	FLNA	OMIM:304120
HP:0001423	X-linked dominant inheritance	2316	FLNA	OMIM:309350
HP:0001423	X-linked dominant inheritance	2316	FLNA	OMIM:311300
HP:0001423	X-linked dominant inheritance	55869	HDAC8	OMIM:300882
HP:0001423	X-linked dominant inheritance	54880	BCOR	OMIM:300166
HP:0001423	X-linked dominant inheritance	8239	USP9X	OMIM:300968
HP:0001423	X-linked dominant inheritance	5160	PDHA1	OMIM:312170
HP:0001423	X-linked dominant inheritance	6197	RPS6KA3	OMIM:300844
HP:0001423	X-linked dominant inheritance	6197	RPS6KA3	OMIM:303600
HP:0001423	X-linked dominant inheritance	2273	FHL1	OMIM:300717
HP:0001423	X-linked dominant inheritance	2273	FHL1	OMIM:300695
HP:0001423	X-linked dominant inheritance	1896	EDA	OMIM:313500
HP:0001423	X-linked dominant inheritance	8481	OFD1	OMIM:311200
HP:0001423	X-linked dominant inheritance	1654	DDX3X	OMIM:300958
HP:0001423	X-linked dominant inheritance	23096	IQSEC2	OMIM:309530
HP:0001423	X-linked dominant inheritance	1287	COL4A5	OMIM:301050
HP:0001423	X-linked dominant inheritance	9338	TCEAL1	OMIM:301094
HP:0001423	X-linked dominant inheritance	139285	AMER1	OMIM:300373
HP:0001423	X-linked dominant inheritance	9968	MED12	OMIM:301068
HP:0001423	X-linked dominant inheritance	5251	PHEX	OMIM:307800
HP:0001423	X-linked dominant inheritance	6853	SYN1	OMIM:300491
HP:0001423	X-linked dominant inheritance	4810	NHS	OMIM:302350
HP:0001423	X-linked dominant inheritance	11152	WDR45	OMIM:300894
HP:0001423	X-linked dominant inheritance	1736	DKC1	OMIM:301108
HP:0001423	X-linked dominant inheritance	7355	SLC35A2	OMIM:300896
HP:0001423	X-linked dominant inheritance	3920	LAMP2	OMIM:300257
HP:0001423	X-linked dominant inheritance	29978	UBQLN2	OMIM:300857
HP:0001423	X-linked dominant inheritance	8260	NAA10	OMIM:300855
HP:0001423	X-linked dominant inheritance	50814	NSDHL	OMIM:308050
HP:0001423	X-linked dominant inheritance	2664	GDI1	OMIM:300849
HP:0001423	X-linked dominant inheritance	9203	ZMYM3	OMIM:301111
HP:0001423	X-linked dominant inheritance	10682	EBP	OMIM:302960
HP:0001423	X-linked dominant inheritance	2182	ACSL4	OMIM:300387
HP:0001423	X-linked dominant inheritance	10943	MSL3	OMIM:301032
HP:0001423	X-linked dominant inheritance	23676	SMPX	OMIM:300066
HP:0001423	X-linked dominant inheritance	2332	FMR1	OMIM:300623
HP:0001423	X-linked dominant inheritance	2332	FMR1	OMIM:300624
HP:0001423	X-linked dominant inheritance	10013	HDAC6	OMIM:300863
HP:0001423	X-linked dominant inheritance	2705	GJB1	OMIM:302800
HP:0001423	X-linked dominant inheritance	7403	KDM6A	OMIM:300867
HP:0001423	X-linked dominant inheritance	3188	HNRNPH2	OMIM:300986
HP:0001423	X-linked dominant inheritance	83550	GPR101	OMIM:300942
HP:0001423	X-linked dominant inheritance	4204	MECP2	OMIM:312750
HP:0001423	X-linked dominant inheritance	8517	IKBKG	OMIM:308300
HP:0001423	X-linked dominant inheritance	2157	F8	OMIM:301071
HP:0001426	Non-Mendelian inheritance	240	ALOX5	OMIM:600807
HP:0001426	Non-Mendelian inheritance	6356	CCL11	OMIM:600807
HP:0001426	Non-Mendelian inheritance	7124	TNF	OMIM:600807
HP:0001426	Non-Mendelian inheritance	3176	HNMT	OMIM:600807
HP:0001426	Non-Mendelian inheritance	4589	MUC7	OMIM:600807
HP:0001426	Non-Mendelian inheritance	117156	SCGB3A2	OMIM:600807
HP:0001426	Non-Mendelian inheritance	3135	HLA-G	OMIM:600807
HP:0001426	Non-Mendelian inheritance	3596	IL13	OMIM:600807
HP:0001426	Non-Mendelian inheritance	6331	SCN5A	OMIM:272120
HP:0001426	Non-Mendelian inheritance	672	BRCA1	OMIM:604370
HP:0001426	Non-Mendelian inheritance	114798	SLITRK1	OMIM:613229
HP:0001426	Non-Mendelian inheritance	2147	F2	OMIM:601367
HP:0001426	Non-Mendelian inheritance	4846	NOS3	OMIM:601367
HP:0001426	Non-Mendelian inheritance	4846	NOS3	OMIM:145500
HP:0001426	Non-Mendelian inheritance	5583	PRKCH	OMIM:601367
HP:0001426	Non-Mendelian inheritance	2153	F5	OMIM:601367
HP:0001426	Non-Mendelian inheritance	241	ALOX5AP	OMIM:601367
HP:0001426	Non-Mendelian inheritance	57502	NLGN4X	OMIM:300495
HP:0001426	Non-Mendelian inheritance	3107	HLA-C	OMIM:177900
HP:0001426	Non-Mendelian inheritance	5078	PAX4	OMIM:612227
HP:0001426	Non-Mendelian inheritance	3117	HLA-DQA1	OMIM:212750
HP:0001426	Non-Mendelian inheritance	3119	HLA-DQB1	OMIM:212750
HP:0001426	Non-Mendelian inheritance	3119	HLA-DQB1	OMIM:126200
HP:0001426	Non-Mendelian inheritance	2487	FRZB	OMIM:165720
HP:0001426	Non-Mendelian inheritance	3106	HLA-B	OMIM:106300
HP:0001426	Non-Mendelian inheritance	6638	SNRPN	OMIM:209850
HP:0001426	Non-Mendelian inheritance	64127	NOD2	OMIM:266600
HP:0001426	Non-Mendelian inheritance	64127	NOD2	OMIM:617321
HP:0001426	Non-Mendelian inheritance	3569	IL6	OMIM:266600
HP:0001426	Non-Mendelian inheritance	1280	COL2A1	OMIM:150600
HP:0001426	Non-Mendelian inheritance	50833	TAS2R16	OMIM:103780
HP:0001426	Non-Mendelian inheritance	125	ADH1B	OMIM:103780
HP:0001426	Non-Mendelian inheritance	126	ADH1C	OMIM:103780
HP:0001426	Non-Mendelian inheritance	2555	GABRA2	OMIM:103780
HP:0001426	Non-Mendelian inheritance	3123	HLA-DRB1	OMIM:126200
HP:0001426	Non-Mendelian inheritance	1889	ECE1	OMIM:145500
HP:0001426	Non-Mendelian inheritance	5740	PTGIS	OMIM:145500
HP:0001426	Non-Mendelian inheritance	1577	CYP3A5	OMIM:145500
HP:0001426	Non-Mendelian inheritance	2784	GNB3	OMIM:145500
HP:0001426	Non-Mendelian inheritance	481	ATP1B1	OMIM:145500
HP:0001426	Non-Mendelian inheritance	8490	RGS5	OMIM:145500
HP:0001426	Non-Mendelian inheritance	118	ADD1	OMIM:145500
HP:0001426	Non-Mendelian inheritance	185	AGTR1	OMIM:145500
HP:0001426	Non-Mendelian inheritance	3356	HTR2A	OMIM:608516
HP:0001426	Non-Mendelian inheritance	2289	FKBP5	OMIM:608516
HP:0001426	Non-Mendelian inheritance	121278	TPH2	OMIM:608516
HP:0001426	Non-Mendelian inheritance	219736	STOX1	OMIM:609404
HP:0001426	Non-Mendelian inheritance	155	ADRB3	OMIM:601665
HP:0001426	Non-Mendelian inheritance	5167	ENPP1	OMIM:601665
HP:0001426	Non-Mendelian inheritance	7352	UCP3	OMIM:601665
HP:0001426	Non-Mendelian inheritance	5443	POMC	OMIM:601665
HP:0001426	Non-Mendelian inheritance	8431	NR0B2	OMIM:601665
HP:0001426	Non-Mendelian inheritance	9607	CARTPT	OMIM:601665
HP:0001426	Non-Mendelian inheritance	51738	GHRL	OMIM:601665
HP:0001426	Non-Mendelian inheritance	9672	SDC3	OMIM:601665
HP:0001426	Non-Mendelian inheritance	181	AGRP	OMIM:601665
HP:0001426	Non-Mendelian inheritance	5468	PPARG	OMIM:601665
HP:0001426	Non-Mendelian inheritance	7157	TP53	OMIM:607107
HP:0001426	Non-Mendelian inheritance	22861	NLRP1	OMIM:606579
HP:0001426	Non-Mendelian inheritance	652	BMP4	OMIM:600625
HP:0001426	Non-Mendelian inheritance	2782	GNB1	OMIM:613065
HP:0001426	Non-Mendelian inheritance	6886	TAL1	OMIM:613065
HP:0001426	Non-Mendelian inheritance	6887	TAL2	OMIM:613065
HP:0001426	Non-Mendelian inheritance	581	BAX	OMIM:613065
HP:0001426	Non-Mendelian inheritance	2322	FLT3	OMIM:613065
HP:0001426	Non-Mendelian inheritance	4683	NBN	OMIM:613065
HP:0001426	Non-Mendelian inheritance	8021	NUP214	OMIM:613065
HP:0001426	Non-Mendelian inheritance	613	BCR	OMIM:613065
HP:0001426	Non-Mendelian inheritance	8542	APOL1	OMIM:612551
HP:0001426	Non-Mendelian inheritance	64241	ABCG8	OMIM:611465
HP:0001426	Non-Mendelian inheritance	144568	A2ML1	OMIM:166760
HP:0001426	Non-Mendelian inheritance	3075	CFH	OMIM:610698
HP:0001426	Non-Mendelian inheritance	5654	HTRA1	OMIM:610149
HP:0001426	Non-Mendelian inheritance	1471	CST3	OMIM:611953
HP:0001426	Non-Mendelian inheritance	3664	IRF6	OMIM:608864
HP:0001426	Non-Mendelian inheritance	871	SERPINH1	OMIM:610504
HP:0001426	Non-Mendelian inheritance	23767	FLRT3	OMIM:615271
HP:0001426	Non-Mendelian inheritance	7298	TYMS	OMIM:620040
HP:0001426	Non-Mendelian inheritance	128	ADH5	OMIM:619151
HP:0001426	Non-Mendelian inheritance	79659	DYNC2H1	OMIM:613091
HP:0001426	Non-Mendelian inheritance	1187	CLCNKA	OMIM:613090
HP:0001426	Non-Mendelian inheritance	1188	CLCNKB	OMIM:613090
HP:0001426	Non-Mendelian inheritance	392255	GDF6	OMIM:613703
HP:0001426	Non-Mendelian inheritance	9573	GDF3	OMIM:613703
HP:0001426	Non-Mendelian inheritance	23347	SMCHD1	OMIM:158901
HP:0001426	Non-Mendelian inheritance	55791	LRIF1	OMIM:619477
HP:0001426	Non-Mendelian inheritance	1789	DNMT3B	OMIM:619478
HP:0001426	Non-Mendelian inheritance	2706	GJB2	OMIM:220290
HP:0001426	Non-Mendelian inheritance	2707	GJB3	OMIM:220290
HP:0001426	Non-Mendelian inheritance	10804	GJB6	OMIM:220290
HP:0001426	Non-Mendelian inheritance	28234	SLCO1B3	OMIM:237450
HP:0001426	Non-Mendelian inheritance	10599	SLCO1B1	OMIM:237450
HP:0001426	Non-Mendelian inheritance	4750	NEK1	OMIM:263520
HP:0001427	Mitochondrial inheritance	4574	MT-TS1	OMIM:540000
HP:0001427	Mitochondrial inheritance	4574	MT-TS1	OMIM:220110
HP:0001427	Mitochondrial inheritance	4574	MT-TS1	OMIM:580000
HP:0001427	Mitochondrial inheritance	4575	MT-TS2	OMIM:540000
HP:0001427	Mitochondrial inheritance	4535	MT-ND1	OMIM:540000
HP:0001427	Mitochondrial inheritance	4535	MT-ND1	OMIM:535000
HP:0001427	Mitochondrial inheritance	4567	MT-TL1	OMIM:540000
HP:0001427	Mitochondrial inheritance	4567	MT-TL1	OMIM:545000
HP:0001427	Mitochondrial inheritance	4512	MT-CO1	OMIM:540000
HP:0001427	Mitochondrial inheritance	4513	MT-CO2	OMIM:540000
HP:0001427	Mitochondrial inheritance	4514	MT-CO3	OMIM:540000
HP:0001427	Mitochondrial inheritance	4514	MT-CO3	OMIM:535000
HP:0001427	Mitochondrial inheritance	4519	MT-CYB	OMIM:540000
HP:0001427	Mitochondrial inheritance	4519	MT-CYB	OMIM:535000
HP:0001427	Mitochondrial inheritance	4511	MT-TC	OMIM:540000
HP:0001427	Mitochondrial inheritance	4572	MT-TQ	OMIM:540000
HP:0001427	Mitochondrial inheritance	4577	MT-TV	OMIM:540000
HP:0001427	Mitochondrial inheritance	4578	MT-TW	OMIM:540000
HP:0001427	Mitochondrial inheritance	4558	MT-TF	OMIM:540000
HP:0001427	Mitochondrial inheritance	4558	MT-TF	OMIM:545000
HP:0001427	Mitochondrial inheritance	4566	MT-TK	OMIM:540000
HP:0001427	Mitochondrial inheritance	4566	MT-TK	OMIM:545000
HP:0001427	Mitochondrial inheritance	4540	MT-ND5	OMIM:540000
HP:0001427	Mitochondrial inheritance	4540	MT-ND5	OMIM:535000
HP:0001427	Mitochondrial inheritance	4541	MT-ND6	OMIM:540000
HP:0001427	Mitochondrial inheritance	4541	MT-ND6	OMIM:535000
HP:0001427	Mitochondrial inheritance	4570	MT-TN	OMIM:220110
HP:0001427	Mitochondrial inheritance	6834	SURF1	OMIM:220110
HP:0001427	Mitochondrial inheritance	4724	NDUFS4	OMIM:252010
HP:0001427	Mitochondrial inheritance	4576	MT-TT	OMIM:551000
HP:0001427	Mitochondrial inheritance	55687	TRMU	OMIM:580000
HP:0001427	Mitochondrial inheritance	4508	MT-ATP6	OMIM:551500
HP:0001427	Mitochondrial inheritance	4508	MT-ATP6	OMIM:535000
HP:0001427	Mitochondrial inheritance	112812	FDX2	OMIM:251900
HP:0001427	Mitochondrial inheritance	4565	MT-TI	OMIM:545000
HP:0001427	Mitochondrial inheritance	4571	MT-TP	OMIM:545000
HP:0001427	Mitochondrial inheritance	4536	MT-ND2	OMIM:535000
HP:0001427	Mitochondrial inheritance	4538	MT-ND4	OMIM:535000
HP:0001427	Mitochondrial inheritance	4539	MT-ND4L	OMIM:535000
HP:0001427	Mitochondrial inheritance	617	BCS1L	OMIM:124000
HP:0001442	Typified by somatic mosaicism	5290	PIK3CA	OMIM:612918
HP:0001442	Typified by somatic mosaicism	5290	PIK3CA	OMIM:114500
HP:0001442	Typified by somatic mosaicism	5290	PIK3CA	OMIM:155500
HP:0001442	Typified by somatic mosaicism	5290	PIK3CA	OMIM:114550
HP:0001442	Typified by somatic mosaicism	5290	PIK3CA	OMIM:613089
HP:0001442	Typified by somatic mosaicism	5290	PIK3CA	OMIM:167000
HP:0001442	Typified by somatic mosaicism	5290	PIK3CA	OMIM:613659
HP:0001442	Typified by somatic mosaicism	5290	PIK3CA	OMIM:602501
HP:0001442	Typified by somatic mosaicism	5290	PIK3CA	OMIM:182000
HP:0001442	Typified by somatic mosaicism	5290	PIK3CA	OMIM:114480
HP:0001442	Typified by somatic mosaicism	5290	PIK3CA	OMIM:211980
HP:0001442	Typified by somatic mosaicism	5290	PIK3CA	OMIM:606773
HP:0001442	Typified by somatic mosaicism	5290	PIK3CA	OMIM:162900
HP:0001442	Typified by somatic mosaicism	11281	POU6F2	OMIM:601583
HP:0001442	Typified by somatic mosaicism	699	BUB1	OMIM:114500
HP:0001442	Typified by somatic mosaicism	581	BAX	OMIM:114500
HP:0001442	Typified by somatic mosaicism	581	BAX	OMIM:613065
HP:0001442	Typified by somatic mosaicism	25788	RAD54B	OMIM:114500
HP:0001442	Typified by somatic mosaicism	5795	PTPRJ	OMIM:114500
HP:0001442	Typified by somatic mosaicism	5157	PDGFRL	OMIM:114500
HP:0001442	Typified by somatic mosaicism	5157	PDGFRL	OMIM:114550
HP:0001442	Typified by somatic mosaicism	1630	DCC	OMIM:114500
HP:0001442	Typified by somatic mosaicism	1630	DCC	OMIM:133239
HP:0001442	Typified by somatic mosaicism	207	AKT1	OMIM:114500
HP:0001442	Typified by somatic mosaicism	207	AKT1	OMIM:167000
HP:0001442	Typified by somatic mosaicism	207	AKT1	OMIM:176920
HP:0001442	Typified by somatic mosaicism	207	AKT1	OMIM:114480
HP:0001442	Typified by somatic mosaicism	7157	TP53	OMIM:114500
HP:0001442	Typified by somatic mosaicism	7157	TP53	OMIM:260350
HP:0001442	Typified by somatic mosaicism	7157	TP53	OMIM:137800
HP:0001442	Typified by somatic mosaicism	7157	TP53	OMIM:114550
HP:0001442	Typified by somatic mosaicism	7157	TP53	OMIM:259500
HP:0001442	Typified by somatic mosaicism	7157	TP53	OMIM:114480
HP:0001442	Typified by somatic mosaicism	673	BRAF	OMIM:114500
HP:0001442	Typified by somatic mosaicism	673	BRAF	OMIM:211980
HP:0001442	Typified by somatic mosaicism	10395	DLC1	OMIM:114500
HP:0001442	Typified by somatic mosaicism	8313	AXIN2	OMIM:114500
HP:0001442	Typified by somatic mosaicism	4163	MCC	OMIM:114500
HP:0001442	Typified by somatic mosaicism	2261	FGFR3	OMIM:114500
HP:0001442	Typified by somatic mosaicism	2261	FGFR3	OMIM:109800
HP:0001442	Typified by somatic mosaicism	2261	FGFR3	OMIM:603956
HP:0001442	Typified by somatic mosaicism	2261	FGFR3	OMIM:273300
HP:0001442	Typified by somatic mosaicism	2261	FGFR3	OMIM:162900
HP:0001442	Typified by somatic mosaicism	201163	FLCN	OMIM:114500
HP:0001442	Typified by somatic mosaicism	595	CCND1	OMIM:114500
HP:0001442	Typified by somatic mosaicism	595	CCND1	OMIM:254500
HP:0001442	Typified by somatic mosaicism	7097	TLR2	OMIM:114500
HP:0001442	Typified by somatic mosaicism	6714	SRC	OMIM:114500
HP:0001442	Typified by somatic mosaicism	2033	EP300	OMIM:114500
HP:0001442	Typified by somatic mosaicism	27030	MLH3	OMIM:114500
HP:0001442	Typified by somatic mosaicism	27030	MLH3	OMIM:608089
HP:0001442	Typified by somatic mosaicism	5320	PLA2G2A	OMIM:114500
HP:0001442	Typified by somatic mosaicism	1499	CTNNB1	OMIM:114500
HP:0001442	Typified by somatic mosaicism	1499	CTNNB1	OMIM:114550
HP:0001442	Typified by somatic mosaicism	1499	CTNNB1	OMIM:155255
HP:0001442	Typified by somatic mosaicism	1499	CTNNB1	OMIM:167000
HP:0001442	Typified by somatic mosaicism	1499	CTNNB1	OMIM:132600
HP:0001442	Typified by somatic mosaicism	6790	AURKA	OMIM:114500
HP:0001442	Typified by somatic mosaicism	4893	NRAS	OMIM:114500
HP:0001442	Typified by somatic mosaicism	4893	NRAS	OMIM:188470
HP:0001442	Typified by somatic mosaicism	4893	NRAS	OMIM:163200
HP:0001442	Typified by somatic mosaicism	4893	NRAS	OMIM:137550
HP:0001442	Typified by somatic mosaicism	4893	NRAS	OMIM:614470
HP:0001442	Typified by somatic mosaicism	4893	NRAS	OMIM:249400
HP:0001442	Typified by somatic mosaicism	4893	NRAS	OMIM:162900
HP:0001442	Typified by somatic mosaicism	324	APC	OMIM:114500
HP:0001442	Typified by somatic mosaicism	324	APC	OMIM:114550
HP:0001442	Typified by somatic mosaicism	324	APC	OMIM:613659
HP:0001442	Typified by somatic mosaicism	701	BUB1B	OMIM:114500
HP:0001442	Typified by somatic mosaicism	5782	PTPN12	OMIM:114500
HP:0001442	Typified by somatic mosaicism	26511	CHIC2	OMIM:601626
HP:0001442	Typified by somatic mosaicism	4026	LPP	OMIM:601626
HP:0001442	Typified by somatic mosaicism	3717	JAK2	OMIM:601626
HP:0001442	Typified by somatic mosaicism	3717	JAK2	OMIM:254450
HP:0001442	Typified by somatic mosaicism	3717	JAK2	OMIM:263300
HP:0001442	Typified by somatic mosaicism	3717	JAK2	OMIM:614521
HP:0001442	Typified by somatic mosaicism	8021	NUP214	OMIM:601626
HP:0001442	Typified by somatic mosaicism	8021	NUP214	OMIM:613065
HP:0001442	Typified by somatic mosaicism	3845	KRAS	OMIM:601626
HP:0001442	Typified by somatic mosaicism	3845	KRAS	OMIM:260350
HP:0001442	Typified by somatic mosaicism	3845	KRAS	OMIM:109800
HP:0001442	Typified by somatic mosaicism	3845	KRAS	OMIM:613659
HP:0001442	Typified by somatic mosaicism	3845	KRAS	OMIM:163200
HP:0001442	Typified by somatic mosaicism	3845	KRAS	OMIM:108010
HP:0001442	Typified by somatic mosaicism	3845	KRAS	OMIM:614470
HP:0001442	Typified by somatic mosaicism	3845	KRAS	OMIM:114480
HP:0001442	Typified by somatic mosaicism	3845	KRAS	OMIM:211980
HP:0001442	Typified by somatic mosaicism	3845	KRAS	OMIM:600268
HP:0001442	Typified by somatic mosaicism	2624	GATA2	OMIM:601626
HP:0001442	Typified by somatic mosaicism	2624	GATA2	OMIM:614286
HP:0001442	Typified by somatic mosaicism	3815	KIT	OMIM:601626
HP:0001442	Typified by somatic mosaicism	3815	KIT	OMIM:273300
HP:0001442	Typified by somatic mosaicism	8301	PICALM	OMIM:601626
HP:0001442	Typified by somatic mosaicism	1788	DNMT3A	OMIM:601626
HP:0001442	Typified by somatic mosaicism	7015	TERT	OMIM:601626
HP:0001442	Typified by somatic mosaicism	8028	MLLT10	OMIM:601626
HP:0001442	Typified by somatic mosaicism	861	RUNX1	OMIM:601626
HP:0001442	Typified by somatic mosaicism	2322	FLT3	OMIM:601626
HP:0001442	Typified by somatic mosaicism	2322	FLT3	OMIM:613065
HP:0001442	Typified by somatic mosaicism	1050	CEBPA	OMIM:601626
HP:0001442	Typified by somatic mosaicism	2120	ETV6	OMIM:601626
HP:0001442	Typified by somatic mosaicism	6455	SH3GL1	OMIM:601626
HP:0001442	Typified by somatic mosaicism	4869	NPM1	OMIM:601626
HP:0001442	Typified by somatic mosaicism	6208	RPS14	OMIM:153550
HP:0001442	Typified by somatic mosaicism	2778	GNAS	OMIM:174800
HP:0001442	Typified by somatic mosaicism	2778	GNAS	OMIM:219080
HP:0001442	Typified by somatic mosaicism	2778	GNAS	OMIM:617686
HP:0001442	Typified by somatic mosaicism	51008	ASCC1	OMIM:614266
HP:0001442	Typified by somatic mosaicism	115908	CTHRC1	OMIM:614266
HP:0001442	Typified by somatic mosaicism	4481	MSR1	OMIM:614266
HP:0001442	Typified by somatic mosaicism	5156	PDGFRA	OMIM:607685
HP:0001442	Typified by somatic mosaicism	7317	UBA1	OMIM:301054
HP:0001442	Typified by somatic mosaicism	4352	MPL	OMIM:601977
HP:0001442	Typified by somatic mosaicism	4352	MPL	OMIM:254450
HP:0001442	Typified by somatic mosaicism	6598	SMARCB1	OMIM:162091
HP:0001442	Typified by somatic mosaicism	91754	NEK9	OMIM:617025
HP:0001442	Typified by somatic mosaicism	2782	GNB1	OMIM:613065
HP:0001442	Typified by somatic mosaicism	2782	GNB1	OMIM:614286
HP:0001442	Typified by somatic mosaicism	6886	TAL1	OMIM:613065
HP:0001442	Typified by somatic mosaicism	6887	TAL2	OMIM:613065
HP:0001442	Typified by somatic mosaicism	4683	NBN	OMIM:613065
HP:0001442	Typified by somatic mosaicism	613	BCR	OMIM:613065
HP:0001442	Typified by somatic mosaicism	613	BCR	OMIM:608232
HP:0001442	Typified by somatic mosaicism	23095	KIF1B	OMIM:256700
HP:0001442	Typified by somatic mosaicism	5914	RARA	OMIM:612376
HP:0001442	Typified by somatic mosaicism	999	CDH1	OMIM:608089
HP:0001442	Typified by somatic mosaicism	999	CDH1	OMIM:167000
HP:0001442	Typified by somatic mosaicism	999	CDH1	OMIM:114480
HP:0001442	Typified by somatic mosaicism	2956	MSH6	OMIM:608089
HP:0001442	Typified by somatic mosaicism	4437	MSH3	OMIM:608089
HP:0001442	Typified by somatic mosaicism	8915	BCL10	OMIM:137245
HP:0001442	Typified by somatic mosaicism	8915	BCL10	OMIM:273300
HP:0001442	Typified by somatic mosaicism	8915	BCL10	OMIM:156240
HP:0001442	Typified by somatic mosaicism	7030	TFE3	OMIM:300854
HP:0001442	Typified by somatic mosaicism	463	ZFHX3	OMIM:176807
HP:0001442	Typified by somatic mosaicism	4601	MXI1	OMIM:176807
HP:0001442	Typified by somatic mosaicism	8379	MAD1L1	OMIM:176807
HP:0001442	Typified by somatic mosaicism	11200	CHEK2	OMIM:176807
HP:0001442	Typified by somatic mosaicism	11200	CHEK2	OMIM:259500
HP:0001442	Typified by somatic mosaicism	5728	PTEN	OMIM:176807
HP:0001442	Typified by somatic mosaicism	675	BRCA2	OMIM:176807
HP:0001442	Typified by somatic mosaicism	675	BRCA2	OMIM:194070
HP:0001442	Typified by somatic mosaicism	675	BRCA2	OMIM:155255
HP:0001442	Typified by somatic mosaicism	675	BRCA2	OMIM:114480
HP:0001442	Typified by somatic mosaicism	1316	KLF6	OMIM:176807
HP:0001442	Typified by somatic mosaicism	1316	KLF6	OMIM:613659
HP:0001442	Typified by somatic mosaicism	91	ACVR1B	OMIM:260350
HP:0001442	Typified by somatic mosaicism	4089	SMAD4	OMIM:260350
HP:0001442	Typified by somatic mosaicism	6794	STK11	OMIM:260350
HP:0001442	Typified by somatic mosaicism	6794	STK11	OMIM:273300
HP:0001442	Typified by somatic mosaicism	171023	ASXL1	OMIM:614286
HP:0001442	Typified by somatic mosaicism	23451	SF3B1	OMIM:614286
HP:0001442	Typified by somatic mosaicism	54790	TET2	OMIM:614286
HP:0001442	Typified by somatic mosaicism	2064	ERBB2	OMIM:137800
HP:0001442	Typified by somatic mosaicism	2064	ERBB2	OMIM:167000
HP:0001442	Typified by somatic mosaicism	2064	ERBB2	OMIM:613659
HP:0001442	Typified by somatic mosaicism	2064	ERBB2	OMIM:211980
HP:0001442	Typified by somatic mosaicism	3417	IDH1	OMIM:137800
HP:0001442	Typified by somatic mosaicism	57522	SRGAP1	OMIM:188470
HP:0001442	Typified by somatic mosaicism	3265	HRAS	OMIM:188470
HP:0001442	Typified by somatic mosaicism	3265	HRAS	OMIM:109800
HP:0001442	Typified by somatic mosaicism	3265	HRAS	OMIM:163200
HP:0001442	Typified by somatic mosaicism	3265	HRAS	OMIM:137550
HP:0001442	Typified by somatic mosaicism	3265	HRAS	OMIM:162900
HP:0001442	Typified by somatic mosaicism	9562	MINPP1	OMIM:188470
HP:0001442	Typified by somatic mosaicism	7490	WT1	OMIM:194080
HP:0001442	Typified by somatic mosaicism	7490	WT1	OMIM:136680
HP:0001442	Typified by somatic mosaicism	7490	WT1	OMIM:194072
HP:0001442	Typified by somatic mosaicism	7490	WT1	OMIM:194070
HP:0001442	Typified by somatic mosaicism	7490	WT1	OMIM:156240
HP:0001442	Typified by somatic mosaicism	4763	NF1	OMIM:607785
HP:0001442	Typified by somatic mosaicism	867	CBL	OMIM:607785
HP:0001442	Typified by somatic mosaicism	5781	PTPN11	OMIM:607785
HP:0001442	Typified by somatic mosaicism	23092	ARHGAP26	OMIM:607785
HP:0001442	Typified by somatic mosaicism	25	ABL1	OMIM:608232
HP:0001442	Typified by somatic mosaicism	7248	TSC1	OMIM:606690
HP:0001442	Typified by somatic mosaicism	7248	TSC1	OMIM:607341
HP:0001442	Typified by somatic mosaicism	7249	TSC2	OMIM:606690
HP:0001442	Typified by somatic mosaicism	7249	TSC2	OMIM:607341
HP:0001442	Typified by somatic mosaicism	2771	GNAI2	OMIM:192605
HP:0001442	Typified by somatic mosaicism	2308	FOXO1	OMIM:268220
HP:0001442	Typified by somatic mosaicism	5077	PAX3	OMIM:268220
HP:0001442	Typified by somatic mosaicism	5081	PAX7	OMIM:268220
HP:0001442	Typified by somatic mosaicism	29071	C1GALT1C1	OMIM:300622
HP:0001442	Typified by somatic mosaicism	4233	MET	OMIM:114550
HP:0001442	Typified by somatic mosaicism	4233	MET	OMIM:605074
HP:0001442	Typified by somatic mosaicism	8312	AXIN1	OMIM:114550
HP:0001442	Typified by somatic mosaicism	3482	IGF2R	OMIM:114550
HP:0001442	Typified by somatic mosaicism	841	CASP8	OMIM:114550
HP:0001442	Typified by somatic mosaicism	841	CASP8	OMIM:114480
HP:0001442	Typified by somatic mosaicism	841	CASP8	OMIM:211980
HP:0001442	Typified by somatic mosaicism	4615	MYD88	OMIM:153600
HP:0001442	Typified by somatic mosaicism	2260	FGFR1	OMIM:613001
HP:0001442	Typified by somatic mosaicism	5925	RB1	OMIM:109800
HP:0001442	Typified by somatic mosaicism	5925	RB1	OMIM:180200
HP:0001442	Typified by somatic mosaicism	5925	RB1	OMIM:259500
HP:0001442	Typified by somatic mosaicism	5080	PAX6	OMIM:194072
HP:0001442	Typified by somatic mosaicism	3981	LIG4	OMIM:254500
HP:0001442	Typified by somatic mosaicism	5546	PRCC	OMIM:605074
HP:0001442	Typified by somatic mosaicism	2719	GPC3	OMIM:194070
HP:0001442	Typified by somatic mosaicism	2239	GPC4	OMIM:194070
HP:0001442	Typified by somatic mosaicism	3481	IGF2	OMIM:194070
HP:0001442	Typified by somatic mosaicism	283120	H19	OMIM:194070
HP:0001442	Typified by somatic mosaicism	1385	CREB1	OMIM:612160
HP:0001442	Typified by somatic mosaicism	23432	GPR161	OMIM:155255
HP:0001442	Typified by somatic mosaicism	51684	SUFU	OMIM:155255
HP:0001442	Typified by somatic mosaicism	8518	ELP1	OMIM:155255
HP:0001442	Typified by somatic mosaicism	8643	PTCH2	OMIM:155255
HP:0001442	Typified by somatic mosaicism	6608	SMO	OMIM:601707
HP:0001442	Typified by somatic mosaicism	4609	MYC	OMIM:113970
HP:0001442	Typified by somatic mosaicism	3572	IL6ST	OMIM:619750
HP:0001442	Typified by somatic mosaicism	10019	SH2B3	OMIM:254450
HP:0001442	Typified by somatic mosaicism	811	CALR	OMIM:254450
HP:0001442	Typified by somatic mosaicism	51604	PIGT	OMIM:615399
HP:0001442	Typified by somatic mosaicism	4978	OPCML	OMIM:167000
HP:0001442	Typified by somatic mosaicism	5071	PRKN	OMIM:167000
HP:0001442	Typified by somatic mosaicism	5071	PRKN	OMIM:211980
HP:0001442	Typified by somatic mosaicism	79798	ARMC5	OMIM:615954
HP:0001442	Typified by somatic mosaicism	3553	IL1B	OMIM:613659
HP:0001442	Typified by somatic mosaicism	3557	IL1RN	OMIM:613659
HP:0001442	Typified by somatic mosaicism	843	CASP10	OMIM:613659
HP:0001442	Typified by somatic mosaicism	3659	IRF1	OMIM:613659
HP:0001442	Typified by somatic mosaicism	3659	IRF1	OMIM:211980
HP:0001442	Typified by somatic mosaicism	2263	FGFR2	OMIM:613659
HP:0001442	Typified by somatic mosaicism	4595	MUTYH	OMIM:613659
HP:0001442	Typified by somatic mosaicism	9049	AIP	OMIM:102200
HP:0001442	Typified by somatic mosaicism	3569	IL6	OMIM:108010
HP:0001442	Typified by somatic mosaicism	5324	PLAG1	OMIM:181030
HP:0001442	Typified by somatic mosaicism	23405	DICER1	OMIM:618272
HP:0001442	Typified by somatic mosaicism	6049	RNF6	OMIM:133239
HP:0001442	Typified by somatic mosaicism	7048	TGFBR2	OMIM:133239
HP:0001442	Typified by somatic mosaicism	11178	LZTS1	OMIM:133239
HP:0001442	Typified by somatic mosaicism	51741	WWOX	OMIM:133239
HP:0001442	Typified by somatic mosaicism	2130	EWSR1	OMIM:612219
HP:0001442	Typified by somatic mosaicism	60	ACTB	OMIM:620470
HP:0001442	Typified by somatic mosaicism	9759	HDAC4	OMIM:600430
HP:0001442	Typified by somatic mosaicism	7355	SLC35A2	OMIM:300896
HP:0001442	Typified by somatic mosaicism	6757	SSX2	OMIM:300813
HP:0001442	Typified by somatic mosaicism	100	ADA	OMIM:102700
HP:0001442	Typified by somatic mosaicism	387	RHOA	OMIM:618727
HP:0001442	Typified by somatic mosaicism	5002	SLC22A18	OMIM:114480
HP:0001442	Typified by somatic mosaicism	5002	SLC22A18	OMIM:211980
HP:0001442	Typified by somatic mosaicism	83990	BRIP1	OMIM:114480
HP:0001442	Typified by somatic mosaicism	4835	NQO2	OMIM:114480
HP:0001442	Typified by somatic mosaicism	5245	PHB1	OMIM:114480
HP:0001442	Typified by somatic mosaicism	3161	HMMR	OMIM:114480
HP:0001442	Typified by somatic mosaicism	580	BARD1	OMIM:114480
HP:0001442	Typified by somatic mosaicism	8493	PPM1D	OMIM:114480
HP:0001442	Typified by somatic mosaicism	9821	RB1CC1	OMIM:114480
HP:0001442	Typified by somatic mosaicism	472	ATM	OMIM:114480
HP:0001442	Typified by somatic mosaicism	2099	ESR1	OMIM:114480
HP:0001442	Typified by somatic mosaicism	7517	XRCC3	OMIM:114480
HP:0001442	Typified by somatic mosaicism	5888	RAD51	OMIM:114480
HP:0001442	Typified by somatic mosaicism	8438	RAD54L	OMIM:114480
HP:0001442	Typified by somatic mosaicism	672	BRCA1	OMIM:114480
HP:0001442	Typified by somatic mosaicism	2131	EXT1	OMIM:215300
HP:0001442	Typified by somatic mosaicism	1956	EGFR	OMIM:211980
HP:0001442	Typified by somatic mosaicism	5519	PPP2R1B	OMIM:211980
HP:0001442	Typified by somatic mosaicism	2074	ERCC6	OMIM:211980
HP:0001442	Typified by somatic mosaicism	1326	MAP3K8	OMIM:211980
HP:0001442	Typified by somatic mosaicism	1548	CYP2A6	OMIM:211980
HP:0001442	Typified by somatic mosaicism	356	FASLG	OMIM:211980
HP:0001442	Typified by somatic mosaicism	2475	MTOR	OMIM:607341
HP:0001442	Typified by somatic mosaicism	5277	PIGA	OMIM:300818
HP:0001442	Typified by somatic mosaicism	8013	NR4A3	OMIM:612237
HP:0001442	Typified by somatic mosaicism	8148	TAF15	OMIM:612237
HP:0001442	Typified by somatic mosaicism	79058	ASPSCR1	OMIM:606243
HP:0001442	Typified by somatic mosaicism	79577	CDC73	OMIM:608266
HP:0030796	Increased C-peptide level	3767	KCNJ11	ORPHA:276580
HP:0030796	Increased C-peptide level	3767	KCNJ11	ORPHA:79644
HP:0030796	Increased C-peptide level	63924	CIDEC	OMIM:615238
HP:0030796	Increased C-peptide level	7351	UCP2	ORPHA:276556
HP:0030796	Increased C-peptide level	3643	INSR	ORPHA:769
HP:0030796	Increased C-peptide level	3643	INSR	OMIM:246200
HP:0030796	Increased C-peptide level	3033	HADH	ORPHA:71212
HP:0030796	Increased C-peptide level	6927	HNF1A	ORPHA:324575
HP:0030796	Increased C-peptide level	6833	ABCC8	ORPHA:276575
HP:0030796	Increased C-peptide level	5468	PPARG	ORPHA:528
HP:0030796	Increased C-peptide level	10555	AGPAT2	ORPHA:528
HP:0030796	Increased C-peptide level	284119	CAVIN1	ORPHA:528
HP:0030796	Increased C-peptide level	26580	BSCL2	ORPHA:528
HP:0030796	Increased C-peptide level	2353	FOS	ORPHA:528
HP:0030796	Increased C-peptide level	857	CAV1	ORPHA:528
HP:0030796	Increased C-peptide level	55186	SLC25A36	OMIM:620211
HP:0030795	Reduced C-peptide level	3630	INS	OMIM:618858
HP:0030795	Reduced C-peptide level	3767	KCNJ11	OMIM:610582
HP:0030795	Reduced C-peptide level	3767	KCNJ11	OMIM:616329
HP:0030795	Reduced C-peptide level	3767	KCNJ11	OMIM:618856
HP:0030795	Reduced C-peptide level	4665	NAB2	ORPHA:2126
HP:0030795	Reduced C-peptide level	6778	STAT6	ORPHA:2126
HP:0030795	Reduced C-peptide level	3651	PDX1	OMIM:260370
HP:0030795	Reduced C-peptide level	23019	CNOT1	ORPHA:556955
HP:0030795	Reduced C-peptide level	2645	GCK	OMIM:606176
HP:0030794	Abnormal circulating C-peptide concentration	3767	KCNJ11	ORPHA:552
HP:0030794	Abnormal circulating C-peptide concentration	8462	KLF11	ORPHA:552
HP:0030794	Abnormal circulating C-peptide concentration	2645	GCK	ORPHA:552
HP:0030794	Abnormal circulating C-peptide concentration	2645	GCK	ORPHA:79299
HP:0030794	Abnormal circulating C-peptide concentration	26060	APPL1	ORPHA:552
HP:0030794	Abnormal circulating C-peptide concentration	640	BLK	ORPHA:552
HP:0030794	Abnormal circulating C-peptide concentration	1056	CEL	ORPHA:552
HP:0030794	Abnormal circulating C-peptide concentration	4760	NEUROD1	ORPHA:552
HP:0030794	Abnormal circulating C-peptide concentration	3651	PDX1	ORPHA:552
HP:0030794	Abnormal circulating C-peptide concentration	6833	ABCC8	ORPHA:552
HP:0030794	Abnormal circulating C-peptide concentration	5078	PAX4	ORPHA:552
HP:0030794	Abnormal circulating C-peptide concentration	3172	HNF4A	ORPHA:552
HP:0030794	Abnormal circulating C-peptide concentration	6927	HNF1A	ORPHA:552
HP:0030794	Abnormal circulating C-peptide concentration	3630	INS	ORPHA:552
HP:0030794	Abnormal circulating C-peptide concentration	3643	INSR	ORPHA:263458
HP:0030794	Abnormal circulating C-peptide concentration	4665	NAB2	ORPHA:2126
HP:0030794	Abnormal circulating C-peptide concentration	6778	STAT6	ORPHA:2126
HP:0030794	Abnormal circulating C-peptide concentration	23019	CNOT1	ORPHA:556955
HP:0030794	Abnormal circulating C-peptide concentration	63924	CIDEC	OMIM:615238
HP:0030794	Abnormal circulating C-peptide concentration	7351	UCP2	ORPHA:276556
HP:0030794	Abnormal circulating C-peptide concentration	3033	HADH	ORPHA:71212
HP:0030794	Abnormal circulating C-peptide concentration	5468	PPARG	ORPHA:528
HP:0030794	Abnormal circulating C-peptide concentration	10555	AGPAT2	ORPHA:528
HP:0030794	Abnormal circulating C-peptide concentration	284119	CAVIN1	ORPHA:528
HP:0030794	Abnormal circulating C-peptide concentration	26580	BSCL2	ORPHA:528
HP:0030794	Abnormal circulating C-peptide concentration	2353	FOS	ORPHA:528
HP:0030794	Abnormal circulating C-peptide concentration	857	CAV1	ORPHA:528
HP:0030794	Abnormal circulating C-peptide concentration	55186	SLC25A36	OMIM:620211
HP:0030793	Jaw swelling	6452	SH3BP2	OMIM:118400
HP:0030793	Jaw swelling	23102	TBC1D2B	OMIM:619323
HP:0010105	Short first metatarsal	2033	EP300	OMIM:613684
HP:0010105	Short first metatarsal	2263	FGFR2	OMIM:123150
HP:0010105	Short first metatarsal	2260	FGFR1	OMIM:123150
HP:0010105	Short first metatarsal	3209	HOXA13	OMIM:140000
HP:0010105	Short first metatarsal	3209	HOXA13	ORPHA:2438
HP:0010105	Short first metatarsal	57020	VPS35L	OMIM:619135
HP:0004681	Deep longitudinal plantar crease	2074	ERCC6	OMIM:214150
HP:0004681	Deep longitudinal plantar crease	23556	PIGN	ORPHA:280633
HP:0001822	Hallux valgus	7291	TWIST1	ORPHA:794
HP:0001822	Hallux valgus	7291	TWIST1	OMIM:101400
HP:0001822	Hallux valgus	7291	TWIST1	OMIM:180750
HP:0001822	Hallux valgus	2263	FGFR2	ORPHA:794
HP:0001822	Hallux valgus	2263	FGFR2	OMIM:101400
HP:0001822	Hallux valgus	2261	FGFR3	ORPHA:794
HP:0001822	Hallux valgus	658	BMPR1B	OMIM:112600
HP:0001822	Hallux valgus	650	BMP2	OMIM:112600
HP:0001822	Hallux valgus	8200	GDF5	OMIM:112600
HP:0001822	Hallux valgus	7528	YY1	ORPHA:506358
HP:0001822	Hallux valgus	7528	YY1	OMIM:617557
HP:0001822	Hallux valgus	10262	SF3B4	OMIM:154400
HP:0001822	Hallux valgus	8294	H4C9	OMIM:619951
HP:0001822	Hallux valgus	3590	IL11RA	OMIM:614188
HP:0001822	Hallux valgus	1859	DYRK1A	ORPHA:268261
HP:0001822	Hallux valgus	1859	DYRK1A	OMIM:614104
HP:0001822	Hallux valgus	25923	ATL3	OMIM:615632
HP:0001822	Hallux valgus	6938	TCF12	OMIM:615314
HP:0001822	Hallux valgus	8239	USP9X	ORPHA:480880
HP:0001822	Hallux valgus	6804	STX1A	ORPHA:904
HP:0001822	Hallux valgus	7461	CLIP2	ORPHA:904
HP:0001822	Hallux valgus	84277	DNAJC30	ORPHA:904
HP:0001822	Hallux valgus	8468	FKBP6	ORPHA:904
HP:0001822	Hallux valgus	5982	RFC2	ORPHA:904
HP:0001822	Hallux valgus	2969	GTF2I	ORPHA:904
HP:0001822	Hallux valgus	3984	LIMK1	ORPHA:904
HP:0001822	Hallux valgus	9569	GTF2IRD1	ORPHA:904
HP:0001822	Hallux valgus	155382	VPS37D	ORPHA:904
HP:0001822	Hallux valgus	155368	METTL27	ORPHA:904
HP:0001822	Hallux valgus	114049	BUD23	ORPHA:904
HP:0001822	Hallux valgus	7458	EIF4H	ORPHA:904
HP:0001822	Hallux valgus	84163	GTF2IRD2	ORPHA:904
HP:0001822	Hallux valgus	26608	TBL2	ORPHA:904
HP:0001822	Hallux valgus	653361	NCF1	ORPHA:904
HP:0001822	Hallux valgus	135886	TMEM270	ORPHA:904
HP:0001822	Hallux valgus	9031	BAZ1B	ORPHA:904
HP:0001822	Hallux valgus	2006	ELN	ORPHA:904
HP:0001822	Hallux valgus	2006	ELN	OMIM:194050
HP:0001822	Hallux valgus	57122	NUP107	OMIM:618348
HP:0001822	Hallux valgus	5927	KDM5A	OMIM:620820
HP:0001822	Hallux valgus	10283	CWC27	OMIM:250410
HP:0001822	Hallux valgus	10283	CWC27	ORPHA:166035
HP:0001822	Hallux valgus	207	AKT1	ORPHA:744
HP:0001822	Hallux valgus	55027	HEATR3	OMIM:620072
HP:0001822	Hallux valgus	9839	ZEB2	ORPHA:261537
HP:0001822	Hallux valgus	9839	ZEB2	ORPHA:261552
HP:0001822	Hallux valgus	79759	ZNF668	OMIM:620194
HP:0001822	Hallux valgus	55315	SLC29A3	OMIM:602782
HP:0001822	Hallux valgus	55315	SLC29A3	ORPHA:168569
HP:0001822	Hallux valgus	2077	ERF	OMIM:617180
HP:0001822	Hallux valgus	6567	SLC16A2	OMIM:300523
HP:0001822	Hallux valgus	91179	SCARF2	OMIM:600920
HP:0001822	Hallux valgus	4841	NONO	OMIM:300967
HP:0001822	Hallux valgus	4841	NONO	ORPHA:466791
HP:0001822	Hallux valgus	1278	COL1A2	ORPHA:230851
HP:0001822	Hallux valgus	1278	COL1A2	OMIM:617821
HP:0001822	Hallux valgus	56098	PCDHGC4	OMIM:619880
HP:0001822	Hallux valgus	83737	ITCH	OMIM:613385
HP:0001822	Hallux valgus	4621	MYH3	OMIM:618436
HP:0001822	Hallux valgus	6662	SOX9	OMIM:114290
HP:0001822	Hallux valgus	57466	SCAF4	OMIM:620511
HP:0001822	Hallux valgus	55780	ERMARD	ORPHA:75857
HP:0001822	Hallux valgus	51085	MLXIPL	OMIM:194050
HP:0001822	Hallux valgus	2273	FHL1	OMIM:300280
HP:0001822	Hallux valgus	11107	PRDM5	ORPHA:90354
HP:0001822	Hallux valgus	84627	ZNF469	ORPHA:90354
HP:0001822	Hallux valgus	5932	RBBP8	OMIM:251255
HP:0001822	Hallux valgus	90	ACVR1	ORPHA:337
HP:0001822	Hallux valgus	90	ACVR1	OMIM:135100
HP:0001822	Hallux valgus	126792	B3GALT6	OMIM:271640
HP:0001822	Hallux valgus	126792	B3GALT6	ORPHA:536467
HP:0001822	Hallux valgus	8626	TP63	OMIM:603543
HP:0001822	Hallux valgus	4784	NFIX	OMIM:602535
HP:0001822	Hallux valgus	2629	GBA1	ORPHA:2072
HP:0001822	Hallux valgus	165	AEBP1	OMIM:618000
HP:0001822	Hallux valgus	165	AEBP1	ORPHA:536532
HP:0001822	Hallux valgus	6709	SPTAN1	OMIM:620528
HP:0001822	Hallux valgus	7874	USP7	OMIM:616863
HP:0001822	Hallux valgus	5831	PYCR1	OMIM:612940
HP:0001822	Hallux valgus	9469	CHST3	OMIM:245600
HP:0001822	Hallux valgus	26229	B3GAT3	OMIM:245600
HP:0001822	Hallux valgus	6595	SMARCA2	OMIM:601358
HP:0001822	Hallux valgus	6792	CDKL5	ORPHA:505652
HP:0001822	Hallux valgus	1277	COL1A1	OMIM:130060
HP:0001822	Hallux valgus	23102	TBC1D2B	ORPHA:397973
HP:0001822	Hallux valgus	80185	TTI2	OMIM:615541
HP:0001822	Hallux valgus	7543	ZFX	OMIM:301118
HP:0001822	Hallux valgus	57178	ZMIZ1	OMIM:618659
HP:0001822	Hallux valgus	79813	EHMT1	OMIM:610253
HP:0001822	Hallux valgus	6736	SRY	ORPHA:1772
HP:0001822	Hallux valgus	3239	HOXD13	ORPHA:93409
HP:0001822	Hallux valgus	526	ATP6V1B2	ORPHA:3473
HP:0001822	Hallux valgus	3756	KCNH1	ORPHA:3473
HP:0001822	Hallux valgus	3782	KCNN3	ORPHA:3473
HP:0001822	Hallux valgus	5696	PSMB8	OMIM:256040
HP:0004691	2-3 toe syndactyly	10682	EBP	ORPHA:401973
HP:0004691	2-3 toe syndactyly	10682	EBP	OMIM:300960
HP:0004691	2-3 toe syndactyly	658	BMPR1B	OMIM:112600
HP:0004691	2-3 toe syndactyly	650	BMP2	OMIM:112600
HP:0004691	2-3 toe syndactyly	8200	GDF5	OMIM:112600
HP:0004691	2-3 toe syndactyly	22827	PUF60	ORPHA:508498
HP:0004691	2-3 toe syndactyly	11253	MAN1B1	ORPHA:397941
HP:0004691	2-3 toe syndactyly	23394	ADNP	ORPHA:404448
HP:0004691	2-3 toe syndactyly	5898	RALA	OMIM:619311
HP:0004691	2-3 toe syndactyly	8294	H4C9	OMIM:619951
HP:0004691	2-3 toe syndactyly	8506	CNTNAP1	OMIM:618186
HP:0004691	2-3 toe syndactyly	4683	NBN	OMIM:251260
HP:0004691	2-3 toe syndactyly	5885	RAD21	OMIM:614701
HP:0004691	2-3 toe syndactyly	81857	MED25	OMIM:616449
HP:0004691	2-3 toe syndactyly	81857	MED25	ORPHA:464738
HP:0004691	2-3 toe syndactyly	10586	MAB21L2	OMIM:615877
HP:0004691	2-3 toe syndactyly	5927	KDM5A	OMIM:620820
HP:0004691	2-3 toe syndactyly	8854	ALDH1A2	OMIM:620025
HP:0004691	2-3 toe syndactyly	10274	STAG1	ORPHA:502434
HP:0004691	2-3 toe syndactyly	85358	SHANK3	OMIM:606232
HP:0004691	2-3 toe syndactyly	64324	NSD1	ORPHA:821
HP:0004691	2-3 toe syndactyly	10297	APC2	ORPHA:821
HP:0004691	2-3 toe syndactyly	55209	SETD5	ORPHA:404440
HP:0004691	2-3 toe syndactyly	10743	RAI1	ORPHA:477817
HP:0004691	2-3 toe syndactyly	6299	SALL1	OMIM:107480
HP:0004691	2-3 toe syndactyly	55790	CSGALNACT1	OMIM:618870
HP:0004691	2-3 toe syndactyly	23291	FBXW11	OMIM:618914
HP:0004691	2-3 toe syndactyly	10982	MAPRE2	OMIM:616734
HP:0004691	2-3 toe syndactyly	1717	DHCR7	ORPHA:818
HP:0004691	2-3 toe syndactyly	1717	DHCR7	OMIM:270400
HP:0004691	2-3 toe syndactyly	9126	SMC3	OMIM:610759
HP:0004691	2-3 toe syndactyly	4297	KMT2A	OMIM:605130
HP:0004691	2-3 toe syndactyly	8626	TP63	OMIM:106260
HP:0004691	2-3 toe syndactyly	6660	SOX5	ORPHA:313892
HP:0004691	2-3 toe syndactyly	54880	BCOR	ORPHA:2712
HP:0004691	2-3 toe syndactyly	54880	BCOR	OMIM:300166
HP:0004691	2-3 toe syndactyly	11145	PLAAT3	OMIM:620683
HP:0004691	2-3 toe syndactyly	51057	WDPCP	OMIM:217085
HP:0004691	2-3 toe syndactyly	9241	NOG	OMIM:186500
HP:0004691	2-3 toe syndactyly	727857	BHLHA9	ORPHA:157801
HP:0004691	2-3 toe syndactyly	7319	UBE2A	OMIM:300860
HP:0004691	2-3 toe syndactyly	10087	CERT1	OMIM:616351
HP:0004691	2-3 toe syndactyly	372	ARCN1	OMIM:617164
HP:0004691	2-3 toe syndactyly	164	AP1G1	OMIM:619467
HP:0004691	2-3 toe syndactyly	1656	DDX6	OMIM:618653
HP:0004691	2-3 toe syndactyly	4212	MEIS2	OMIM:600987
HP:0004691	2-3 toe syndactyly	23327	NEDD4L	OMIM:617201
HP:0004691	2-3 toe syndactyly	5147	PDE6D	OMIM:615665
HP:0004691	2-3 toe syndactyly	57178	ZMIZ1	OMIM:618659
HP:0004691	2-3 toe syndactyly	3239	HOXD13	ORPHA:93406
HP:0004691	2-3 toe syndactyly	4613	MYCN	OMIM:164280
HP:0004691	2-3 toe syndactyly	4613	MYCN	ORPHA:391641
HP:0004691	2-3 toe syndactyly	93627	TBCK	ORPHA:488632
HP:0004691	2-3 toe syndactyly	6304	SATB1	OMIM:619229
HP:0004691	2-3 toe syndactyly	6874	TAF4	OMIM:620450
HP:0004691	2-3 toe syndactyly	80185	TTI2	ORPHA:391307
HP:0004691	2-3 toe syndactyly	26160	IFT172	OMIM:619471
HP:0004691	2-3 toe syndactyly	10664	CTCF	ORPHA:363611
HP:0004691	2-3 toe syndactyly	3590	IL11RA	OMIM:614188
HP:0004691	2-3 toe syndactyly	55165	CEP55	OMIM:236500
HP:0004691	2-3 toe syndactyly	84992	PIGY	OMIM:616809
HP:0004691	2-3 toe syndactyly	10907	TXNL4A	OMIM:608572
HP:0004691	2-3 toe syndactyly	284252	KCTD1	OMIM:181270
HP:0004691	2-3 toe syndactyly	6558	SLC12A2	OMIM:619080
HP:0004691	2-3 toe syndactyly	7204	TRIO	OMIM:617061
HP:0004691	2-3 toe syndactyly	7204	TRIO	ORPHA:476126
HP:0004691	2-3 toe syndactyly	64327	LMBR1	OMIM:186200
HP:0004691	2-3 toe syndactyly	2222	FDFT1	OMIM:618156
HP:0004691	2-3 toe syndactyly	4089	SMAD4	OMIM:139210
HP:0004691	2-3 toe syndactyly	6857	SYT1	ORPHA:522077
HP:0004691	2-3 toe syndactyly	8318	CDC45	OMIM:617063
HP:0004691	2-3 toe syndactyly	6472	SHMT2	OMIM:619121
HP:0004691	2-3 toe syndactyly	112752	IFT43	OMIM:617866
HP:0004691	2-3 toe syndactyly	112752	IFT43	OMIM:614099
HP:0004691	2-3 toe syndactyly	80210	ARMC9	OMIM:617622
HP:0004691	2-3 toe syndactyly	57570	TRMT5	OMIM:616539
HP:0004691	2-3 toe syndactyly	3708	ITPR1	OMIM:117360
HP:0004691	2-3 toe syndactyly	2263	FGFR2	OMIM:123150
HP:0004691	2-3 toe syndactyly	2263	FGFR2	ORPHA:1540
HP:0004691	2-3 toe syndactyly	2260	FGFR1	OMIM:123150
HP:0004691	2-3 toe syndactyly	23529	CLCF1	OMIM:610313
HP:0004691	2-3 toe syndactyly	11128	POLR3A	ORPHA:3455
HP:0004691	2-3 toe syndactyly	745	MYRF	OMIM:618280
HP:0004691	2-3 toe syndactyly	23387	SIK3	OMIM:618162
HP:0004691	2-3 toe syndactyly	10020	GNE	OMIM:269921
HP:0004691	2-3 toe syndactyly	10020	GNE	ORPHA:3166
HP:0004691	2-3 toe syndactyly	1663	DDX11	OMIM:613398
HP:0004691	2-3 toe syndactyly	25836	NIPBL	OMIM:122470
HP:0004691	2-3 toe syndactyly	9757	KMT2B	OMIM:619934
HP:0004691	2-3 toe syndactyly	4848	CNOT2	OMIM:618608
HP:0004691	2-3 toe syndactyly	55023	PHIP	ORPHA:589905
HP:0004691	2-3 toe syndactyly	6913	TBX15	OMIM:260660
HP:0004691	2-3 toe syndactyly	341208	HEPHL1	OMIM:261990
HP:0004691	2-3 toe syndactyly	55212	BBS7	OMIM:615984
HP:0004691	2-3 toe syndactyly	4208	MEF2C	OMIM:613443
HP:0004691	2-3 toe syndactyly	3516	RBPJ	OMIM:614814
HP:0004691	2-3 toe syndactyly	3720	JARID2	OMIM:620098
HP:0004691	2-3 toe syndactyly	3762	KCNJ5	ORPHA:37553
HP:0004691	2-3 toe syndactyly	3759	KCNJ2	ORPHA:37553
HP:0004691	2-3 toe syndactyly	9990	SLC12A6	OMIM:218000
HP:0004684	Talipes valgus	2131	EXT1	ORPHA:321
HP:0004684	Talipes valgus	2132	EXT2	ORPHA:321
HP:0004684	Talipes valgus	5119	CHMP1A	OMIM:614961
HP:0004684	Talipes valgus	3187	HNRNPH1	OMIM:620083
HP:0004684	Talipes valgus	4125	MAN2B1	ORPHA:309282
HP:0004684	Talipes valgus	4841	NONO	ORPHA:466791
HP:0004684	Talipes valgus	1788	DNMT3A	OMIM:615879
HP:0004684	Talipes valgus	25782	RAB3GAP2	OMIM:212720
HP:0004684	Talipes valgus	3977	LIFR	OMIM:601559
HP:0004684	Talipes valgus	6335	SCN9A	ORPHA:36387
HP:0004684	Talipes valgus	112755	STX1B	ORPHA:36387
HP:0004684	Talipes valgus	2563	GABRD	ORPHA:36387
HP:0004684	Talipes valgus	6326	SCN2A	ORPHA:36387
HP:0004684	Talipes valgus	112476	PRRT2	ORPHA:36387
HP:0004684	Talipes valgus	6323	SCN1A	ORPHA:36387
HP:0004684	Talipes valgus	6324	SCN1B	ORPHA:36387
HP:0004684	Talipes valgus	348980	HCN1	ORPHA:36387
HP:0004684	Talipes valgus	2258	FGF13	ORPHA:36387
HP:0004684	Talipes valgus	84059	ADGRV1	ORPHA:36387
HP:0004684	Talipes valgus	2566	GABRG2	ORPHA:36387
HP:0004684	Talipes valgus	833	CARS1	OMIM:618891
HP:0004686	Short third metatarsal	3094	HINT1	ORPHA:324442
HP:0010064	Symphalangism affecting the phalanges of the hallux	727857	BHLHA9	OMIM:609432
HP:0004688	Irregular tarsal bones	2879	GPX4	OMIM:250220
HP:0004689	Short fourth metatarsal	9759	HDAC4	OMIM:600430
HP:0004689	Short fourth metatarsal	9578	CDC42BPB	OMIM:619841
HP:0004689	Short fourth metatarsal	5191	PEX7	OMIM:266500
HP:0004689	Short fourth metatarsal	5264	PHYH	OMIM:266500
HP:0004689	Short fourth metatarsal	94005	PIGS	OMIM:618143
HP:0004689	Short fourth metatarsal	341208	HEPHL1	OMIM:261990
HP:0004689	Short fourth metatarsal	89970	RSPRY1	ORPHA:457395
HP:0004689	Short fourth metatarsal	89970	RSPRY1	OMIM:616723
HP:0004689	Short fourth metatarsal	54585	LZTFL1	OMIM:615994
HP:0004689	Short fourth metatarsal	55628	ZNF407	OMIM:619557
HP:0004689	Short fourth metatarsal	2146	EZH2	OMIM:277590
HP:0004689	Short fourth metatarsal	79633	FAT4	OMIM:615546
HP:0004689	Short fourth metatarsal	3708	ITPR1	OMIM:206700
HP:0004689	Short fourth metatarsal	8642	DCHS1	OMIM:601390
HP:0004689	Short fourth metatarsal	54496	PRMT7	ORPHA:464288
HP:0004689	Short fourth metatarsal	6925	TCF4	OMIM:610954
HP:0004689	Short fourth metatarsal	90459	ERI1	OMIM:620662
HP:0007841	Amyloid deposition in the vitreous humor	7276	TTR	OMIM:105210
HP:0007843	Attenuation of retinal blood vessels	92840	REEP6	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	92840	REEP6	OMIM:617304
HP:0007843	Attenuation of retinal blood vessels	6094	ROM1	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	6094	ROM1	OMIM:608133
HP:0007843	Attenuation of retinal blood vessels	6017	RLBP1	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	6017	RLBP1	ORPHA:52427
HP:0007843	Attenuation of retinal blood vessels	7401	CLRN1	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	7401	CLRN1	OMIM:614180
HP:0007843	Attenuation of retinal blood vessels	24	ABCA4	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	24	ABCA4	ORPHA:1872
HP:0007843	Attenuation of retinal blood vessels	24	ABCA4	OMIM:601718
HP:0007843	Attenuation of retinal blood vessels	24	ABCA4	OMIM:604116
HP:0007843	Attenuation of retinal blood vessels	130557	ZNF513	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	130557	ZNF513	OMIM:613617
HP:0007843	Attenuation of retinal blood vessels	582	BBS1	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	582	BBS1	OMIM:209900
HP:0007843	Attenuation of retinal blood vessels	92211	CDHR1	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	92211	CDHR1	ORPHA:1872
HP:0007843	Attenuation of retinal blood vessels	92211	CDHR1	OMIM:613660
HP:0007843	Attenuation of retinal blood vessels	23568	ARL2BP	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	6121	RPE65	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	6121	RPE65	ORPHA:364055
HP:0007843	Attenuation of retinal blood vessels	6121	RPE65	OMIM:204100
HP:0007843	Attenuation of retinal blood vessels	6121	RPE65	OMIM:613794
HP:0007843	Attenuation of retinal blood vessels	54806	AHI1	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	6101	RP1	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	6101	RP1	OMIM:180100
HP:0007843	Attenuation of retinal blood vessels	3419	IDH3A	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	3419	IDH3A	OMIM:619007
HP:0007843	Attenuation of retinal blood vessels	4751	NEK2	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	346007	EYS	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	346007	EYS	OMIM:602772
HP:0007843	Attenuation of retinal blood vessels	8100	IFT88	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	23020	SNRNP200	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	23020	SNRNP200	OMIM:610359
HP:0007843	Attenuation of retinal blood vessels	762	CA4	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	138050	HGSNAT	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	196	AHR	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	3614	IMPDH1	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	3614	IMPDH1	OMIM:180105
HP:0007843	Attenuation of retinal blood vessels	123016	TTC8	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	123016	TTC8	OMIM:613464
HP:0007843	Attenuation of retinal blood vessels	6103	RPGR	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	6103	RPGR	ORPHA:1872
HP:0007843	Attenuation of retinal blood vessels	6103	RPGR	ORPHA:49382
HP:0007843	Attenuation of retinal blood vessels	1406	CRX	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	1406	CRX	ORPHA:1872
HP:0007843	Attenuation of retinal blood vessels	5148	PDE6G	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	5148	PDE6G	OMIM:613582
HP:0007843	Attenuation of retinal blood vessels	26160	IFT172	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	26160	IFT172	OMIM:616394
HP:0007843	Attenuation of retinal blood vessels	26121	PRPF31	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	583	BBS2	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	4117	MAK	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	4117	MAK	OMIM:614181
HP:0007843	Attenuation of retinal blood vessels	25794	FSCN2	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	25794	FSCN2	OMIM:607921
HP:0007843	Attenuation of retinal blood vessels	375298	CERKL	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	375298	CERKL	OMIM:608380
HP:0007843	Attenuation of retinal blood vessels	3420	IDH3B	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	3420	IDH3B	OMIM:612572
HP:0007843	Attenuation of retinal blood vessels	57670	KIAA1549	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	57670	KIAA1549	OMIM:618613
HP:0007843	Attenuation of retinal blood vessels	7275	TUB	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	7275	TUB	OMIM:616188
HP:0007843	Attenuation of retinal blood vessels	24148	PRPF6	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	24148	PRPF6	OMIM:613983
HP:0007843	Attenuation of retinal blood vessels	23418	CRB1	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	23418	CRB1	OMIM:600105
HP:0007843	Attenuation of retinal blood vessels	10461	MERTK	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	57709	SLC7A14	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	768206	PRCD	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	768206	PRCD	OMIM:610599
HP:0007843	Attenuation of retinal blood vessels	7399	USH2A	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	7399	USH2A	OMIM:613809
HP:0007843	Attenuation of retinal blood vessels	23370	ARHGEF18	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	5949	RBP3	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	6010	RHO	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	6010	RHO	OMIM:613731
HP:0007843	Attenuation of retinal blood vessels	6010	RHO	ORPHA:52427
HP:0007843	Attenuation of retinal blood vessels	6100	RP9	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	10002	NR2E3	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	9227	LRAT	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	9227	LRAT	ORPHA:364055
HP:0007843	Attenuation of retinal blood vessels	84140	FAM161A	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	55812	SPATA7	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	55812	SPATA7	ORPHA:364055
HP:0007843	Attenuation of retinal blood vessels	55624	POMGNT1	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	79797	ZNF408	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	79797	ZNF408	OMIM:616469
HP:0007843	Attenuation of retinal blood vessels	403	ARL3	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	403	ARL3	OMIM:618173
HP:0007843	Attenuation of retinal blood vessels	5145	PDE6A	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	5145	PDE6A	OMIM:613810
HP:0007843	Attenuation of retinal blood vessels	10210	TOPORS	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	10210	TOPORS	OMIM:609923
HP:0007843	Attenuation of retinal blood vessels	8842	PROM1	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	8842	PROM1	OMIM:612095
HP:0007843	Attenuation of retinal blood vessels	8842	PROM1	ORPHA:1872
HP:0007843	Attenuation of retinal blood vessels	9128	PRPF4	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	9128	PRPF4	OMIM:615922
HP:0007843	Attenuation of retinal blood vessels	145226	RDH12	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	145226	RDH12	OMIM:612712
HP:0007843	Attenuation of retinal blood vessels	50939	IMPG2	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	50939	IMPG2	OMIM:613581
HP:0007843	Attenuation of retinal blood vessels	57545	CC2D2A	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	8481	OFD1	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	8481	OFD1	OMIM:300424
HP:0007843	Attenuation of retinal blood vessels	49855	SCAPER	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	49855	SCAPER	OMIM:618195
HP:0007843	Attenuation of retinal blood vessels	9742	IFT140	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	9742	IFT140	OMIM:617781
HP:0007843	Attenuation of retinal blood vessels	9742	IFT140	OMIM:266920
HP:0007843	Attenuation of retinal blood vessels	2979	GUCA1B	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	1259	CNGA1	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	1259	CNGA1	OMIM:613756
HP:0007843	Attenuation of retinal blood vessels	1258	CNGB1	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	60509	AGBL5	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	60509	AGBL5	OMIM:617023
HP:0007843	Attenuation of retinal blood vessels	5961	PRPH2	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	5961	PRPH2	OMIM:608133
HP:0007843	Attenuation of retinal blood vessels	5961	PRPH2	ORPHA:1872
HP:0007843	Attenuation of retinal blood vessels	5961	PRPH2	ORPHA:52427
HP:0007843	Attenuation of retinal blood vessels	388939	PCARE	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	388939	PCARE	OMIM:613428
HP:0007843	Attenuation of retinal blood vessels	7439	BEST1	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	7439	BEST1	OMIM:613194
HP:0007843	Attenuation of retinal blood vessels	9785	DHX38	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	9785	DHX38	OMIM:618220
HP:0007843	Attenuation of retinal blood vessels	7287	TULP1	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	7287	TULP1	OMIM:613843
HP:0007843	Attenuation of retinal blood vessels	5995	RGR	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	5995	RGR	OMIM:613769
HP:0007843	Attenuation of retinal blood vessels	9129	PRPF3	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	55975	KLHL7	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	3617	IMPG1	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	94137	RP1L1	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	94137	RP1L1	OMIM:618826
HP:0007843	Attenuation of retinal blood vessels	5158	PDE6B	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	5158	PDE6B	OMIM:613801
HP:0007843	Attenuation of retinal blood vessels	6102	RP2	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	55857	KIZ	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	64218	SEMA4A	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	64218	SEMA4A	ORPHA:1872
HP:0007843	Attenuation of retinal blood vessels	64218	SEMA4A	OMIM:610283
HP:0007843	Attenuation of retinal blood vessels	4901	NRL	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	4901	NRL	OMIM:613750
HP:0007843	Attenuation of retinal blood vessels	157657	CFAP418	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	157657	CFAP418	ORPHA:1872
HP:0007843	Attenuation of retinal blood vessels	157657	CFAP418	OMIM:614500
HP:0007843	Attenuation of retinal blood vessels	10594	PRPF8	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	10594	PRPF8	OMIM:600059
HP:0007843	Attenuation of retinal blood vessels	84100	ARL6	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	84100	ARL6	OMIM:209900
HP:0007843	Attenuation of retinal blood vessels	6295	SAG	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	79947	DHDDS	ORPHA:791
HP:0007843	Attenuation of retinal blood vessels	1121	CHM	OMIM:303100
HP:0007843	Attenuation of retinal blood vessels	54903	MKS1	OMIM:615990
HP:0007843	Attenuation of retinal blood vessels	2677	GGCX	ORPHA:436274
HP:0007843	Attenuation of retinal blood vessels	167691	LCA5	ORPHA:364055
HP:0007843	Attenuation of retinal blood vessels	64801	ARV1	OMIM:617020
HP:0007843	Attenuation of retinal blood vessels	755	CFAP410	OMIM:617547
HP:0007843	Attenuation of retinal blood vessels	755	CFAP410	ORPHA:1872
HP:0007843	Attenuation of retinal blood vessels	22926	ATF6	ORPHA:1872
HP:0007843	Attenuation of retinal blood vessels	22926	ATF6	ORPHA:49382
HP:0007843	Attenuation of retinal blood vessels	64802	NMNAT1	ORPHA:1872
HP:0007843	Attenuation of retinal blood vessels	64802	NMNAT1	OMIM:608553
HP:0007843	Attenuation of retinal blood vessels	64802	NMNAT1	OMIM:619260
HP:0007843	Attenuation of retinal blood vessels	84839	RAX2	ORPHA:1872
HP:0007843	Attenuation of retinal blood vessels	84839	RAX2	OMIM:620102
HP:0007843	Attenuation of retinal blood vessels	57096	RPGRIP1	ORPHA:1872
HP:0007843	Attenuation of retinal blood vessels	57096	RPGRIP1	OMIM:608194
HP:0007843	Attenuation of retinal blood vessels	57096	RPGRIP1	OMIM:613826
HP:0007843	Attenuation of retinal blood vessels	1261	CNGA3	ORPHA:1872
HP:0007843	Attenuation of retinal blood vessels	1261	CNGA3	ORPHA:49382
HP:0007843	Attenuation of retinal blood vessels	5956	OPN1LW	ORPHA:1872
HP:0007843	Attenuation of retinal blood vessels	778	CACNA1F	ORPHA:1872
HP:0007843	Attenuation of retinal blood vessels	8754	ADAM9	ORPHA:1872
HP:0007843	Attenuation of retinal blood vessels	3000	GUCY2D	ORPHA:1872
HP:0007843	Attenuation of retinal blood vessels	3000	GUCY2D	OMIM:601777
HP:0007843	Attenuation of retinal blood vessels	3000	GUCY2D	OMIM:204000
HP:0007843	Attenuation of retinal blood vessels	22999	RIMS1	ORPHA:1872
HP:0007843	Attenuation of retinal blood vessels	128338	DRAM2	ORPHA:1872
HP:0007843	Attenuation of retinal blood vessels	2652	OPN1MW	ORPHA:1872
HP:0007843	Attenuation of retinal blood vessels	9094	UNC119	ORPHA:1872
HP:0007843	Attenuation of retinal blood vessels	9094	UNC119	OMIM:620342
HP:0007843	Attenuation of retinal blood vessels	93589	CACNA2D4	ORPHA:1872
HP:0007843	Attenuation of retinal blood vessels	2978	GUCA1A	ORPHA:1872
HP:0007843	Attenuation of retinal blood vessels	282809	POC1B	ORPHA:1872
HP:0007843	Attenuation of retinal blood vessels	83394	PITPNM3	ORPHA:1872
HP:0007843	Attenuation of retinal blood vessels	23093	TTLL5	ORPHA:1872
HP:0007843	Attenuation of retinal blood vessels	83723	TLCD3B	ORPHA:1872
HP:0007843	Attenuation of retinal blood vessels	83723	TLCD3B	OMIM:619531
HP:0007843	Attenuation of retinal blood vessels	23746	AIPL1	ORPHA:1872
HP:0007843	Attenuation of retinal blood vessels	23746	AIPL1	OMIM:604393
HP:0007843	Attenuation of retinal blood vessels	9364	RAB28	ORPHA:1872
HP:0007843	Attenuation of retinal blood vessels	85015	USP45	OMIM:618513
HP:0007843	Attenuation of retinal blood vessels	3105	HLA-A	ORPHA:179
HP:0007843	Attenuation of retinal blood vessels	51109	RDH11	OMIM:616108
HP:0007843	Attenuation of retinal blood vessels	79140	CCDC28B	OMIM:209900
HP:0007843	Attenuation of retinal blood vessels	26504	CNNM4	OMIM:217080
HP:0007843	Attenuation of retinal blood vessels	7840	ALMS1	OMIM:203800
HP:0007843	Attenuation of retinal blood vessels	2257	FGF12	OMIM:617166
HP:0007843	Attenuation of retinal blood vessels	4598	MVK	OMIM:610377
HP:0007843	Attenuation of retinal blood vessels	28982	FLVCR1	OMIM:609033
HP:0007843	Attenuation of retinal blood vessels	3035	HARS1	OMIM:614504
HP:0007843	Attenuation of retinal blood vessels	25914	RTTN	ORPHA:468631
HP:0007843	Attenuation of retinal blood vessels	80781	COL18A1	OMIM:267750
HP:0007843	Attenuation of retinal blood vessels	5959	RDH5	ORPHA:52427
HP:0007843	Attenuation of retinal blood vessels	3098	HK1	OMIM:617460
HP:0007843	Attenuation of retinal blood vessels	6742	SSBP1	OMIM:165510
HP:0007843	Attenuation of retinal blood vessels	5146	PDE6C	ORPHA:49382
HP:0007843	Attenuation of retinal blood vessels	5149	PDE6H	ORPHA:49382
HP:0007843	Attenuation of retinal blood vessels	2780	GNAT2	ORPHA:49382
HP:0007843	Attenuation of retinal blood vessels	54714	CNGB3	ORPHA:49382
HP:0007843	Attenuation of retinal blood vessels	112752	IFT43	OMIM:617871
HP:0007843	Attenuation of retinal blood vessels	9187	SLC24A1	OMIM:613830
HP:0007843	Attenuation of retinal blood vessels	6533	SLC6A6	OMIM:145350
HP:0007843	Attenuation of retinal blood vessels	2072	ERCC4	OMIM:610965
HP:0007843	Attenuation of retinal blood vessels	23155	CLCC1	OMIM:609913
HP:0007843	Attenuation of retinal blood vessels	116150	NUS1	OMIM:617082
HP:0007843	Attenuation of retinal blood vessels	57728	WDR19	OMIM:614376
HP:0007843	Attenuation of retinal blood vessels	129880	BBS5	OMIM:615983
HP:0007843	Attenuation of retinal blood vessels	27241	BBS9	OMIM:615986
HP:0007843	Attenuation of retinal blood vessels	51095	TRNT1	OMIM:616959
HP:0007957	Corneal opacity	1497	CTNS	ORPHA:411641
HP:0007957	Corneal opacity	1497	CTNS	OMIM:219800
HP:0007957	Corneal opacity	1497	CTNS	OMIM:219900
HP:0007957	Corneal opacity	1497	CTNS	ORPHA:411634
HP:0007957	Corneal opacity	1497	CTNS	ORPHA:411629
HP:0007957	Corneal opacity	1497	CTNS	OMIM:219750
HP:0007957	Corneal opacity	285440	CYP4V2	OMIM:210370
HP:0007957	Corneal opacity	5422	POLA1	OMIM:301220
HP:0007957	Corneal opacity	7390	UROS	OMIM:263700
HP:0007957	Corneal opacity	54892	NCAPG2	OMIM:618460
HP:0007957	Corneal opacity	85446	ZFHX2	OMIM:147430
HP:0007957	Corneal opacity	1387	CREBBP	ORPHA:353277
HP:0007957	Corneal opacity	59335	PRDM12	OMIM:616488
HP:0007957	Corneal opacity	4358	MPV17	OMIM:256810
HP:0007957	Corneal opacity	4990	SIX6	OMIM:212550
HP:0007957	Corneal opacity	2072	ERCC4	OMIM:610965
HP:0007957	Corneal opacity	1308	COL17A1	ORPHA:293381
HP:0007957	Corneal opacity	4914	NTRK1	ORPHA:642
HP:0007957	Corneal opacity	4914	NTRK1	OMIM:256800
HP:0007957	Corneal opacity	1294	COL7A1	OMIM:226600
HP:0007957	Corneal opacity	667	DST	OMIM:614653
HP:0007957	Corneal opacity	2706	GJB2	OMIM:148210
HP:0007957	Corneal opacity	2033	EP300	ORPHA:353284
HP:0007957	Corneal opacity	11107	PRDM5	ORPHA:90354
HP:0007957	Corneal opacity	84627	ZNF469	ORPHA:90354
HP:0007957	Corneal opacity	80781	COL18A1	OMIM:267750
HP:0007957	Corneal opacity	8671	SLC4A4	OMIM:604278
HP:0007957	Corneal opacity	64127	NOD2	OMIM:186580
HP:0007957	Corneal opacity	6775	STAT4	ORPHA:85410
HP:0007957	Corneal opacity	3560	IL2RB	ORPHA:85410
HP:0007957	Corneal opacity	79722	ANKRD55	ORPHA:85410
HP:0007957	Corneal opacity	26191	PTPN22	ORPHA:85410
HP:0007957	Corneal opacity	919	CD247	ORPHA:85410
HP:0007957	Corneal opacity	3559	IL2RA	ORPHA:85410
HP:0007957	Corneal opacity	5771	PTPN2	ORPHA:85410
HP:0007957	Corneal opacity	182	JAG1	OMIM:118450
HP:0007957	Corneal opacity	2778	GNAS	ORPHA:79443
HP:0007957	Corneal opacity	6657	SOX2	ORPHA:77298
HP:0007957	Corneal opacity	6657	SOX2	OMIM:206900
HP:0007957	Corneal opacity	652	BMP4	ORPHA:139471
HP:0007957	Corneal opacity	652	BMP4	OMIM:607932
HP:0007957	Corneal opacity	29957	SLC25A24	ORPHA:2095
HP:0007957	Corneal opacity	30062	RAX	OMIM:611038
HP:0007957	Corneal opacity	10586	MAB21L2	OMIM:615877
HP:0007957	Corneal opacity	1063	CENPF	OMIM:243605
HP:0007957	Corneal opacity	3166	HMX1	OMIM:612109
HP:0007957	Corneal opacity	9896	FIG4	OMIM:216340
HP:0007957	Corneal opacity	9896	FIG4	ORPHA:3472
HP:0007957	Corneal opacity	84314	TMEM107	ORPHA:564
HP:0007957	Corneal opacity	26123	TCTN3	ORPHA:564
HP:0007957	Corneal opacity	79867	TCTN2	ORPHA:564
HP:0007957	Corneal opacity	80776	B9D2	ORPHA:564
HP:0007957	Corneal opacity	79600	TCTN1	ORPHA:564
HP:0007957	Corneal opacity	57096	RPGRIP1	ORPHA:564
HP:0007957	Corneal opacity	79848	CSPP1	ORPHA:564
HP:0007957	Corneal opacity	80184	CEP290	ORPHA:564
HP:0007957	Corneal opacity	51259	TMEM216	ORPHA:564
HP:0007957	Corneal opacity	57545	CC2D2A	ORPHA:564
HP:0007957	Corneal opacity	79583	TMEM231	ORPHA:564
HP:0007957	Corneal opacity	91147	TMEM67	ORPHA:564
HP:0007957	Corneal opacity	79770	TXNDC15	ORPHA:564
HP:0007957	Corneal opacity	27077	B9D1	ORPHA:564
HP:0007957	Corneal opacity	23322	RPGRIP1L	ORPHA:564
HP:0007957	Corneal opacity	54903	MKS1	ORPHA:564
HP:0007957	Corneal opacity	65062	TMEM237	ORPHA:564
HP:0007957	Corneal opacity	6899	TBX1	OMIM:188400
HP:0007957	Corneal opacity	55697	VAC14	ORPHA:3472
HP:0007957	Corneal opacity	10815	CPLX1	ORPHA:280
HP:0007957	Corneal opacity	54872	PIGG	ORPHA:280
HP:0007957	Corneal opacity	7469	NELFA	ORPHA:280
HP:0007957	Corneal opacity	1487	CTBP1	ORPHA:280
HP:0007957	Corneal opacity	3954	LETM1	ORPHA:280
HP:0007957	Corneal opacity	7468	NSD2	ORPHA:280
HP:0007957	Corneal opacity	91179	SCARF2	OMIM:600920
HP:0007957	Corneal opacity	55714	TENM3	OMIM:615145
HP:0007957	Corneal opacity	8550	MAPKAPK5	OMIM:619869
HP:0007957	Corneal opacity	1717	DHCR7	ORPHA:818
HP:0007957	Corneal opacity	55315	SLC29A3	OMIM:602782
HP:0007957	Corneal opacity	55315	SLC29A3	ORPHA:168569
HP:0007957	Corneal opacity	255738	PCSK9	OMIM:603776
HP:0007957	Corneal opacity	338	APOB	OMIM:144010
HP:0007957	Corneal opacity	336	APOA2	OMIM:143890
HP:0007957	Corneal opacity	2053	EPHX2	OMIM:143890
HP:0007957	Corneal opacity	10842	PPP1R17	OMIM:143890
HP:0007957	Corneal opacity	3949	LDLR	OMIM:143890
HP:0007957	Corneal opacity	2690	GHR	OMIM:143890
HP:0007957	Corneal opacity	3990	LIPC	OMIM:614025
HP:0007957	Corneal opacity	91851	CHRDL1	OMIM:309300
HP:0007957	Corneal opacity	348	APOE	ORPHA:412
HP:0007957	Corneal opacity	64241	ABCG8	OMIM:210250
HP:0007957	Corneal opacity	224	ALDH3A2	OMIM:270200
HP:0007957	Corneal opacity	5309	PITX3	OMIM:107250
HP:0007957	Corneal opacity	2074	ERCC6	OMIM:133540
HP:0007957	Corneal opacity	6309	SC5D	ORPHA:46059
HP:0007957	Corneal opacity	59341	TRPV4	OMIM:184095
HP:0007957	Corneal opacity	2588	GALNS	OMIM:253000
HP:0007957	Corneal opacity	114548	NLRP3	OMIM:148200
HP:0007957	Corneal opacity	4166	CHST6	ORPHA:98969
HP:0007957	Corneal opacity	5308	PITX2	ORPHA:708
HP:0007957	Corneal opacity	84942	WDR73	OMIM:251300
HP:0007957	Corneal opacity	335	APOA1	ORPHA:425
HP:0007957	Corneal opacity	6720	SREBF1	OMIM:158310
HP:0007957	Corneal opacity	2312	FLG	ORPHA:461
HP:0007957	Corneal opacity	51715	RAB23	OMIM:201000
HP:0007957	Corneal opacity	100506658	OCLN	OMIM:251290
HP:0007957	Corneal opacity	326	AIRE	ORPHA:3453
HP:0007957	Corneal opacity	1161	ERCC8	OMIM:216400
HP:0007957	Corneal opacity	84572	GNPTG	OMIM:252605
HP:0007957	Corneal opacity	4668	NAGA	ORPHA:79280
HP:0007957	Corneal opacity	3977	LIFR	OMIM:601559
HP:0007957	Corneal opacity	338917	VSX2	OMIM:610093
HP:0007957	Corneal opacity	6399	TRAPPC2	OMIM:313400
HP:0007957	Corneal opacity	7490	WT1	OMIM:106210
HP:0007957	Corneal opacity	2068	ERCC2	ORPHA:910
HP:0007957	Corneal opacity	7507	XPA	ORPHA:910
HP:0007957	Corneal opacity	2071	ERCC3	ORPHA:910
HP:0007957	Corneal opacity	7508	XPC	ORPHA:910
HP:0007957	Corneal opacity	1643	DDB2	ORPHA:910
HP:0007957	Corneal opacity	2073	ERCC5	ORPHA:910
HP:0007957	Corneal opacity	29914	UBIAD1	OMIM:121800
HP:0007957	Corneal opacity	3859	KRT12	OMIM:122100
HP:0007957	Corneal opacity	5696	PSMB8	OMIM:256040
HP:0007957	Corneal opacity	1763	DNA2	OMIM:620819
HP:0007957	Corneal opacity	8518	ELP1	ORPHA:1764
HP:0007957	Corneal opacity	23556	PIGN	ORPHA:2059
HP:0007957	Corneal opacity	5832	ALDH18A1	OMIM:616603
HP:0007957	Corneal opacity	5832	ALDH18A1	ORPHA:90348
HP:0007957	Corneal opacity	145173	B3GLCT	ORPHA:709
HP:0007957	Corneal opacity	4693	NDP	OMIM:310600
HP:0007957	Corneal opacity	4693	NDP	ORPHA:91495
HP:0007957	Corneal opacity	4693	NDP	ORPHA:649
HP:0007957	Corneal opacity	220202	ATOH7	ORPHA:91495
HP:0007957	Corneal opacity	220202	ATOH7	OMIM:221900
HP:0007957	Corneal opacity	8322	FZD4	ORPHA:91495
HP:0007957	Corneal opacity	80144	FRAS1	OMIM:219000
HP:0007957	Corneal opacity	126792	B3GALT6	OMIM:609465
HP:0007957	Corneal opacity	4758	NEU1	ORPHA:93399
HP:0007957	Corneal opacity	4758	NEU1	ORPHA:812
HP:0007957	Corneal opacity	4758	NEU1	ORPHA:93400
HP:0007957	Corneal opacity	411	ARSB	OMIM:253200
HP:0007957	Corneal opacity	7045	TGFBI	ORPHA:98964
HP:0007957	Corneal opacity	7045	TGFBI	OMIM:608470
HP:0007957	Corneal opacity	55593	OTUD5	OMIM:301056
HP:0007957	Corneal opacity	4125	MAN2B1	ORPHA:309282
HP:0007957	Corneal opacity	4125	MAN2B1	ORPHA:309288
HP:0007957	Corneal opacity	83959	SLC4A11	ORPHA:293603
HP:0007957	Corneal opacity	83959	SLC4A11	ORPHA:1490
HP:0007957	Corneal opacity	83959	SLC4A11	ORPHA:98974
HP:0007957	Corneal opacity	54101	RIPK4	ORPHA:1234
HP:0007957	Corneal opacity	6905	TBCE	ORPHA:2323
HP:0007957	Corneal opacity	10413	YAP1	ORPHA:1473
HP:0007957	Corneal opacity	4952	OCRL	ORPHA:534
HP:0007957	Corneal opacity	29954	POMT2	OMIM:236670
HP:0007957	Corneal opacity	29954	POMT2	ORPHA:899
HP:0007957	Corneal opacity	79147	FKRP	OMIM:236670
HP:0007957	Corneal opacity	79147	FKRP	ORPHA:899
HP:0007957	Corneal opacity	79147	FKRP	OMIM:613153
HP:0007957	Corneal opacity	2218	FKTN	OMIM:236670
HP:0007957	Corneal opacity	2218	FKTN	ORPHA:899
HP:0007957	Corneal opacity	10585	POMT1	OMIM:236670
HP:0007957	Corneal opacity	10585	POMT1	ORPHA:899
HP:0007957	Corneal opacity	9215	LARGE1	OMIM:236670
HP:0007957	Corneal opacity	9215	LARGE1	ORPHA:899
HP:0007957	Corneal opacity	84892	POMGNT2	ORPHA:899
HP:0007957	Corneal opacity	148789	B3GALNT2	ORPHA:899
HP:0007957	Corneal opacity	1282	COL4A1	ORPHA:899
HP:0007957	Corneal opacity	1282	COL4A1	OMIM:175780
HP:0007957	Corneal opacity	729920	CRPPA	ORPHA:899
HP:0007957	Corneal opacity	10329	RXYLT1	ORPHA:899
HP:0007957	Corneal opacity	1605	DAG1	ORPHA:899
HP:0007957	Corneal opacity	11041	B4GAT1	ORPHA:899
HP:0007957	Corneal opacity	84197	POMK	ORPHA:899
HP:0007957	Corneal opacity	55624	POMGNT1	ORPHA:899
HP:0007957	Corneal opacity	427	ASAH1	ORPHA:333
HP:0007957	Corneal opacity	5980	REV3L	ORPHA:570
HP:0007957	Corneal opacity	23129	PLXND1	ORPHA:570
HP:0007957	Corneal opacity	51360	MBTPS2	ORPHA:2273
HP:0007957	Corneal opacity	10584	COLEC10	OMIM:248340
HP:0007957	Corneal opacity	1545	CYP1B1	OMIM:617315
HP:0007957	Corneal opacity	1545	CYP1B1	ORPHA:98976
HP:0007957	Corneal opacity	3423	IDS	ORPHA:217085
HP:0007957	Corneal opacity	3423	IDS	ORPHA:217093
HP:0007957	Corneal opacity	5155	PDGFB	ORPHA:1980
HP:0007957	Corneal opacity	9213	XPR1	ORPHA:1980
HP:0007957	Corneal opacity	5159	PDGFRB	ORPHA:1980
HP:0007957	Corneal opacity	5159	PDGFRB	OMIM:601812
HP:0007957	Corneal opacity	57462	MYORG	ORPHA:1980
HP:0007957	Corneal opacity	6575	SLC20A2	ORPHA:1980
HP:0007957	Corneal opacity	58494	JAM2	ORPHA:1980
HP:0007957	Corneal opacity	412	STS	ORPHA:281090
HP:0007957	Corneal opacity	27151	CPAMD8	OMIM:617319
HP:0007957	Corneal opacity	93627	TBCK	OMIM:616900
HP:0007957	Corneal opacity	93627	TBCK	ORPHA:488632
HP:0007957	Corneal opacity	2260	FGFR1	ORPHA:2396
HP:0007957	Corneal opacity	3845	KRAS	ORPHA:2396
HP:0007957	Corneal opacity	3845	KRAS	OMIM:163200
HP:0007957	Corneal opacity	1147	CHUK	OMIM:619339
HP:0007957	Corneal opacity	2717	GLA	ORPHA:324
HP:0007957	Corneal opacity	4323	MMP14	OMIM:277950
HP:0007957	Corneal opacity	54539	NDUFB11	ORPHA:2556
HP:0007957	Corneal opacity	1349	COX7B	ORPHA:2556
HP:0007957	Corneal opacity	3052	HCCS	ORPHA:2556
HP:0007957	Corneal opacity	6768	ST14	OMIM:602400
HP:0007957	Corneal opacity	6898	TAT	ORPHA:28378
HP:0007957	Corneal opacity	9184	BUB3	ORPHA:1052
HP:0007957	Corneal opacity	699	BUB1	ORPHA:1052
HP:0007957	Corneal opacity	9702	CEP57	ORPHA:1052
HP:0007957	Corneal opacity	9319	TRIP13	ORPHA:1052
HP:0007957	Corneal opacity	701	BUB1B	ORPHA:1052
HP:0007957	Corneal opacity	4053	LTBP2	OMIM:613086
HP:0007957	Corneal opacity	4053	LTBP2	ORPHA:98976
HP:0007957	Corneal opacity	2720	GLB1	OMIM:253010
HP:0007957	Corneal opacity	4041	LRP5	ORPHA:2788
HP:0007957	Corneal opacity	1301	COL11A1	ORPHA:90654
HP:0007957	Corneal opacity	2301	FOXE3	OMIM:610256
HP:0007957	Corneal opacity	3425	IDUA	OMIM:607014
HP:0007957	Corneal opacity	3425	IDUA	OMIM:607016
HP:0007957	Corneal opacity	3425	IDUA	OMIM:607015
HP:0007957	Corneal opacity	3425	IDUA	ORPHA:93474
HP:0007957	Corneal opacity	3425	IDUA	ORPHA:93473
HP:0007957	Corneal opacity	3425	IDUA	ORPHA:93476
HP:0007957	Corneal opacity	2697	GJA1	ORPHA:317
HP:0007957	Corneal opacity	2707	GJB3	ORPHA:317
HP:0007957	Corneal opacity	2531	KDSR	ORPHA:317
HP:0007957	Corneal opacity	127534	GJB4	ORPHA:317
HP:0007957	Corneal opacity	9487	PIGL	ORPHA:3474
HP:0007957	Corneal opacity	11081	KERA	OMIM:217300
HP:0007957	Corneal opacity	5476	CTSA	ORPHA:351
HP:0007957	Corneal opacity	55768	NGLY1	OMIM:615273
HP:0007957	Corneal opacity	2629	GBA1	ORPHA:85212
HP:0007957	Corneal opacity	2629	GBA1	ORPHA:2072
HP:0007957	Corneal opacity	64840	PORCN	ORPHA:2092
HP:0007957	Corneal opacity	5080	PAX6	ORPHA:250923
HP:0007957	Corneal opacity	5080	PAX6	OMIM:120200
HP:0007957	Corneal opacity	2296	FOXC1	ORPHA:250923
HP:0007957	Corneal opacity	54765	TRIM44	ORPHA:250923
HP:0007957	Corneal opacity	1296	COL8A2	OMIM:609140
HP:0007957	Corneal opacity	1296	COL8A2	ORPHA:98973
HP:0007957	Corneal opacity	1296	COL8A2	ORPHA:98974
HP:0007957	Corneal opacity	4519	MT-CYB	ORPHA:137675
HP:0007957	Corneal opacity	4762	NEUROG1	OMIM:620469
HP:0007957	Corneal opacity	6804	STX1A	ORPHA:904
HP:0007957	Corneal opacity	7461	CLIP2	ORPHA:904
HP:0007957	Corneal opacity	84277	DNAJC30	ORPHA:904
HP:0007957	Corneal opacity	8468	FKBP6	ORPHA:904
HP:0007957	Corneal opacity	5982	RFC2	ORPHA:904
HP:0007957	Corneal opacity	2969	GTF2I	ORPHA:904
HP:0007957	Corneal opacity	3984	LIMK1	ORPHA:904
HP:0007957	Corneal opacity	9569	GTF2IRD1	ORPHA:904
HP:0007957	Corneal opacity	155382	VPS37D	ORPHA:904
HP:0007957	Corneal opacity	155368	METTL27	ORPHA:904
HP:0007957	Corneal opacity	114049	BUD23	ORPHA:904
HP:0007957	Corneal opacity	7458	EIF4H	ORPHA:904
HP:0007957	Corneal opacity	84163	GTF2IRD2	ORPHA:904
HP:0007957	Corneal opacity	26608	TBL2	ORPHA:904
HP:0007957	Corneal opacity	653361	NCF1	ORPHA:904
HP:0007957	Corneal opacity	135886	TMEM270	ORPHA:904
HP:0007957	Corneal opacity	9031	BAZ1B	ORPHA:904
HP:0007957	Corneal opacity	2006	ELN	ORPHA:904
HP:0007957	Corneal opacity	2006	ELN	ORPHA:90348
HP:0007957	Corneal opacity	4893	NRAS	OMIM:163200
HP:0007957	Corneal opacity	3265	HRAS	OMIM:163200
HP:0007957	Corneal opacity	1859	DYRK1A	ORPHA:464311
HP:0007957	Corneal opacity	2517	FUCA1	ORPHA:349
HP:0007957	Corneal opacity	285362	SUMF1	OMIM:272200
HP:0007957	Corneal opacity	285362	SUMF1	ORPHA:585
HP:0007957	Corneal opacity	8517	IKBKG	ORPHA:464
HP:0007957	Corneal opacity	2990	GUSB	ORPHA:584
HP:0007957	Corneal opacity	2990	GUSB	OMIM:253220
HP:0007957	Corneal opacity	4000	LMNA	ORPHA:740
HP:0007957	Corneal opacity	10269	ZMPSTE24	ORPHA:740
HP:0007957	Corneal opacity	55210	ATAD3A	ORPHA:496790
HP:0007957	Corneal opacity	55210	ATAD3A	OMIM:617183
HP:0007957	Corneal opacity	162514	TRPV3	OMIM:614594
HP:0007957	Corneal opacity	5130	PCYT1A	ORPHA:85167
HP:0007957	Corneal opacity	5130	PCYT1A	OMIM:608940
HP:0007957	Corneal opacity	50485	SMARCAL1	ORPHA:1830
HP:0007957	Corneal opacity	6925	TCF4	OMIM:613267
HP:0007957	Corneal opacity	6925	TCF4	ORPHA:98974
HP:0007957	Corneal opacity	3931	LCAT	ORPHA:79292
HP:0007957	Corneal opacity	57192	MCOLN1	ORPHA:578
HP:0007957	Corneal opacity	57192	MCOLN1	OMIM:252650
HP:0007957	Corneal opacity	11128	POLR3A	ORPHA:3455
HP:0007957	Corneal opacity	19	ABCA1	ORPHA:31150
HP:0007957	Corneal opacity	7837	PXDN	OMIM:269400
HP:0007957	Corneal opacity	5295	PIK3R1	ORPHA:3163
HP:0007957	Corneal opacity	4081	MAB21L1	ORPHA:495875
HP:0007957	Corneal opacity	5331	PLCB3	OMIM:618961
HP:0007957	Corneal opacity	55612	FERMT1	ORPHA:2908
HP:0007957	Corneal opacity	10848	PPP1R13L	OMIM:620519
HP:0007957	Corneal opacity	10516	FBLN5	ORPHA:90348
HP:0007957	Corneal opacity	4094	MAF	OMIM:610202
HP:0007957	Corneal opacity	4094	MAF	ORPHA:1377
HP:0007957	Corneal opacity	9939	RBM8A	OMIM:274000
HP:0007957	Corneal opacity	79158	GNPTAB	ORPHA:423461
HP:0007957	Corneal opacity	4313	MMP2	OMIM:259600
HP:0007957	Corneal opacity	117581	TWIST2	ORPHA:920
HP:0007957	Corneal opacity	157570	ESCO2	OMIM:268300
HP:0007957	Corneal opacity	2317	FLNB	OMIM:150250
HP:0007957	Corneal opacity	3832	KIF11	OMIM:152950
HP:0007957	Corneal opacity	58495	OVOL2	OMIM:122000
HP:0007957	Corneal opacity	58495	OVOL2	ORPHA:98973
HP:0007957	Corneal opacity	2703	GJA8	ORPHA:1377
HP:0007957	Corneal opacity	1413	CRYBA4	ORPHA:1377
HP:0007957	Corneal opacity	1409	CRYAA	ORPHA:1377
HP:0007957	Corneal opacity	1415	CRYBB2	ORPHA:1377
HP:0007957	Corneal opacity	1414	CRYBB1	ORPHA:1377
HP:0007957	Corneal opacity	1420	CRYGC	ORPHA:1377
HP:0007957	Corneal opacity	1421	CRYGD	ORPHA:1377
HP:0007957	Corneal opacity	9935	MAFB	OMIM:166300
HP:0007957	Corneal opacity	55670	PEX26	ORPHA:912
HP:0007957	Corneal opacity	5824	PEX19	ORPHA:912
HP:0007957	Corneal opacity	5828	PEX2	ORPHA:912
HP:0007957	Corneal opacity	8504	PEX3	ORPHA:912
HP:0007957	Corneal opacity	8799	PEX11B	ORPHA:912
HP:0007957	Corneal opacity	9409	PEX16	ORPHA:912
HP:0007957	Corneal opacity	5190	PEX6	ORPHA:912
HP:0007957	Corneal opacity	5830	PEX5	ORPHA:912
HP:0007957	Corneal opacity	5189	PEX1	ORPHA:912
HP:0007957	Corneal opacity	5193	PEX12	ORPHA:912
HP:0007957	Corneal opacity	5194	PEX13	ORPHA:912
HP:0007957	Corneal opacity	5195	PEX14	ORPHA:912
HP:0007957	Corneal opacity	5192	PEX10	ORPHA:912
HP:0007957	Corneal opacity	4653	MYOC	ORPHA:98976
HP:0007957	Corneal opacity	7010	TEK	ORPHA:98976
HP:0007957	Corneal opacity	3852	KRT5	ORPHA:79396
HP:0007957	Corneal opacity	3861	KRT14	ORPHA:79396
HP:0007957	Corneal opacity	6935	ZEB1	ORPHA:98973
HP:0007957	Corneal opacity	6935	ZEB1	ORPHA:98974
HP:0007957	Corneal opacity	30813	VSX1	ORPHA:98973
HP:0007957	Corneal opacity	79977	GRHL2	ORPHA:98973
HP:0007957	Corneal opacity	54808	DYM	ORPHA:239
HP:0007957	Corneal opacity	123624	AGBL1	ORPHA:98974
HP:0007957	Corneal opacity	4070	TACSTD2	ORPHA:98957
HP:0007957	Corneal opacity	540	ATP7B	ORPHA:905
HP:0007957	Corneal opacity	540	ATP7B	OMIM:277900
HP:0001433	Hepatosplenomegaly	9663	LPIN2	OMIM:609628
HP:0001433	Hepatosplenomegaly	171023	ASXL1	ORPHA:98850
HP:0001433	Hepatosplenomegaly	54790	TET2	ORPHA:98850
HP:0001433	Hepatosplenomegaly	54790	TET2	ORPHA:824
HP:0001433	Hepatosplenomegaly	54790	TET2	OMIM:619126
HP:0001433	Hepatosplenomegaly	867	CBL	ORPHA:98850
HP:0001433	Hepatosplenomegaly	867	CBL	OMIM:613563
HP:0001433	Hepatosplenomegaly	861	RUNX1	ORPHA:98850
HP:0001433	Hepatosplenomegaly	6427	SRSF2	ORPHA:98850
HP:0001433	Hepatosplenomegaly	201294	UNC13D	OMIM:608898
HP:0001433	Hepatosplenomegaly	3071	NCKAP1L	OMIM:618982
HP:0001433	Hepatosplenomegaly	10466	COG5	ORPHA:263487
HP:0001433	Hepatosplenomegaly	2632	GBE1	OMIM:232500
HP:0001433	Hepatosplenomegaly	4598	MVK	OMIM:260920
HP:0001433	Hepatosplenomegaly	4598	MVK	OMIM:610377
HP:0001433	Hepatosplenomegaly	55823	VPS11	ORPHA:466934
HP:0001433	Hepatosplenomegaly	5880	RAC2	OMIM:618986
HP:0001433	Hepatosplenomegaly	100151683	RNU4ATAC	ORPHA:353298
HP:0001433	Hepatosplenomegaly	811	CALR	ORPHA:824
HP:0001433	Hepatosplenomegaly	4352	MPL	ORPHA:824
HP:0001433	Hepatosplenomegaly	3717	JAK2	ORPHA:824
HP:0001433	Hepatosplenomegaly	857	CAV1	OMIM:612526
HP:0001433	Hepatosplenomegaly	4023	LPL	OMIM:238600
HP:0001433	Hepatosplenomegaly	2629	GBA1	OMIM:608013
HP:0001433	Hepatosplenomegaly	2629	GBA1	ORPHA:85212
HP:0001433	Hepatosplenomegaly	2629	GBA1	ORPHA:2072
HP:0001433	Hepatosplenomegaly	2629	GBA1	ORPHA:77259
HP:0001433	Hepatosplenomegaly	4758	NEU1	ORPHA:93399
HP:0001433	Hepatosplenomegaly	4758	NEU1	ORPHA:93400
HP:0001433	Hepatosplenomegaly	9420	CYP7B1	ORPHA:79302
HP:0001433	Hepatosplenomegaly	4125	MAN2B1	ORPHA:309282
HP:0001433	Hepatosplenomegaly	4125	MAN2B1	ORPHA:309288
HP:0001433	Hepatosplenomegaly	55315	SLC29A3	OMIM:602782
HP:0001433	Hepatosplenomegaly	55315	SLC29A3	ORPHA:168569
HP:0001433	Hepatosplenomegaly	6888	TALDO1	ORPHA:101028
HP:0001433	Hepatosplenomegaly	6888	TALDO1	OMIM:606003
HP:0001433	Hepatosplenomegaly	6775	STAT4	ORPHA:85408
HP:0001433	Hepatosplenomegaly	3560	IL2RB	ORPHA:85408
HP:0001433	Hepatosplenomegaly	79722	ANKRD55	ORPHA:85408
HP:0001433	Hepatosplenomegaly	26191	PTPN22	ORPHA:85408
HP:0001433	Hepatosplenomegaly	919	CD247	ORPHA:85408
HP:0001433	Hepatosplenomegaly	919	CD247	ORPHA:169160
HP:0001433	Hepatosplenomegaly	3559	IL2RA	ORPHA:85408
HP:0001433	Hepatosplenomegaly	3559	IL2RA	OMIM:606367
HP:0001433	Hepatosplenomegaly	5771	PTPN2	ORPHA:85408
HP:0001433	Hepatosplenomegaly	939	CD27	OMIM:615122
HP:0001433	Hepatosplenomegaly	3074	HEXB	OMIM:268800
HP:0001433	Hepatosplenomegaly	3074	HEXB	ORPHA:309155
HP:0001433	Hepatosplenomegaly	6813	STXBP2	OMIM:613101
HP:0001433	Hepatosplenomegaly	3459	IFNGR1	OMIM:209950
HP:0001433	Hepatosplenomegaly	3716	JAK1	OMIM:618999
HP:0001433	Hepatosplenomegaly	2122	MECOM	OMIM:616738
HP:0001433	Hepatosplenomegaly	2720	GLB1	ORPHA:79255
HP:0001433	Hepatosplenomegaly	5476	CTSA	OMIM:256540
HP:0001433	Hepatosplenomegaly	57231	SNX14	ORPHA:397709
HP:0001433	Hepatosplenomegaly	9382	COG1	ORPHA:263508
HP:0001433	Hepatosplenomegaly	79158	GNPTAB	ORPHA:576
HP:0001433	Hepatosplenomegaly	5251	PHEX	OMIM:307800
HP:0001433	Hepatosplenomegaly	427	ASAH1	ORPHA:333
HP:0001433	Hepatosplenomegaly	427	ASAH1	ORPHA:2590
HP:0001433	Hepatosplenomegaly	25839	COG4	ORPHA:263501
HP:0001433	Hepatosplenomegaly	1080	CFTR	OMIM:219700
HP:0001433	Hepatosplenomegaly	2212	FCGR2A	OMIM:219700
HP:0001433	Hepatosplenomegaly	7040	TGFB1	OMIM:219700
HP:0001433	Hepatosplenomegaly	915	CD3D	ORPHA:169160
HP:0001433	Hepatosplenomegaly	916	CD3E	ORPHA:169160
HP:0001433	Hepatosplenomegaly	65082	VPS33A	ORPHA:505248
HP:0001433	Hepatosplenomegaly	2859	GPR35	ORPHA:171
HP:0001433	Hepatosplenomegaly	10507	SEMA4D	ORPHA:171
HP:0001433	Hepatosplenomegaly	4485	MST1	ORPHA:171
HP:0001433	Hepatosplenomegaly	6925	TCF4	ORPHA:171
HP:0001433	Hepatosplenomegaly	55240	STEAP3	ORPHA:300298
HP:0001433	Hepatosplenomegaly	51218	GLRX5	OMIM:616860
HP:0001433	Hepatosplenomegaly	1777	DNASE2	OMIM:619858
HP:0001433	Hepatosplenomegaly	3988	LIPA	OMIM:278000
HP:0001433	Hepatosplenomegaly	5896	RAG1	ORPHA:331206
HP:0001433	Hepatosplenomegaly	5897	RAG2	ORPHA:331206
HP:0001433	Hepatosplenomegaly	3423	IDS	ORPHA:217085
HP:0001433	Hepatosplenomegaly	3423	IDS	ORPHA:217093
HP:0001433	Hepatosplenomegaly	3423	IDS	OMIM:309900
HP:0001433	Hepatosplenomegaly	92579	G6PC3	OMIM:612541
HP:0001433	Hepatosplenomegaly	3376	IARS1	ORPHA:541423
HP:0001433	Hepatosplenomegaly	3431	SP110	ORPHA:79124
HP:0001433	Hepatosplenomegaly	8546	AP3B1	OMIM:608233
HP:0001433	Hepatosplenomegaly	1130	LYST	ORPHA:167
HP:0001433	Hepatosplenomegaly	26154	ABCA12	OMIM:601277
HP:0001433	Hepatosplenomegaly	27031	NPHP3	OMIM:267010
HP:0001433	Hepatosplenomegaly	5277	PIGA	OMIM:300868
HP:0001433	Hepatosplenomegaly	7289	TULP3	OMIM:619902
HP:0001433	Hepatosplenomegaly	79415	CYBC1	OMIM:618935
HP:0001433	Hepatosplenomegaly	672	BRCA1	ORPHA:1333
HP:0001433	Hepatosplenomegaly	285282	RABL3	ORPHA:1333
HP:0001433	Hepatosplenomegaly	7157	TP53	ORPHA:1333
HP:0001433	Hepatosplenomegaly	675	BRCA2	ORPHA:1333
HP:0001433	Hepatosplenomegaly	3845	KRAS	ORPHA:1333
HP:0001433	Hepatosplenomegaly	1029	CDKN2A	ORPHA:1333
HP:0001433	Hepatosplenomegaly	79728	PALB2	ORPHA:1333
HP:0001433	Hepatosplenomegaly	4089	SMAD4	ORPHA:1333
HP:0001433	Hepatosplenomegaly	23022	PALLD	ORPHA:1333
HP:0001433	Hepatosplenomegaly	10125	RASGRP1	OMIM:618534
HP:0001433	Hepatosplenomegaly	2783	GNB2	OMIM:619503
HP:0001433	Hepatosplenomegaly	3425	IDUA	OMIM:607014
HP:0001433	Hepatosplenomegaly	2584	GALK1	ORPHA:79237
HP:0001433	Hepatosplenomegaly	9051	PSTPIP1	OMIM:604416
HP:0001433	Hepatosplenomegaly	970	CD70	OMIM:618261
HP:0001433	Hepatosplenomegaly	7840	ALMS1	ORPHA:64
HP:0001433	Hepatosplenomegaly	9056	SLC7A7	ORPHA:470
HP:0001433	Hepatosplenomegaly	10312	TCIRG1	ORPHA:210110
HP:0001433	Hepatosplenomegaly	1186	CLCN7	ORPHA:210110
HP:0001433	Hepatosplenomegaly	9842	PLEKHM1	ORPHA:210110
HP:0001433	Hepatosplenomegaly	6772	STAT1	ORPHA:391487
HP:0001433	Hepatosplenomegaly	3043	HBB	ORPHA:231214
HP:0001433	Hepatosplenomegaly	3043	HBB	ORPHA:231222
HP:0001433	Hepatosplenomegaly	3043	HBB	ORPHA:231226
HP:0001433	Hepatosplenomegaly	6521	SLC4A1	OMIM:611590
HP:0001433	Hepatosplenomegaly	3572	IL6ST	OMIM:619750
HP:0001433	Hepatosplenomegaly	6774	STAT3	OMIM:615952
HP:0001433	Hepatosplenomegaly	199221	DZIP1L	OMIM:617610
HP:0001433	Hepatosplenomegaly	199221	DZIP1L	ORPHA:731
HP:0001433	Hepatosplenomegaly	5580	PRKCD	OMIM:615559
HP:0001433	Hepatosplenomegaly	5828	PEX2	OMIM:614866
HP:0001433	Hepatosplenomegaly	83706	FERMT3	OMIM:612840
HP:0001433	Hepatosplenomegaly	8517	IKBKG	OMIM:301081
HP:0001433	Hepatosplenomegaly	6513	SLC2A1	ORPHA:168577
HP:0001433	Hepatosplenomegaly	65992	DDRGK1	ORPHA:93352
HP:0001433	Hepatosplenomegaly	5551	PRF1	OMIM:603553
HP:0001433	Hepatosplenomegaly	3575	IL7R	ORPHA:169154
HP:0001433	Hepatosplenomegaly	100147744	RNU7-1	OMIM:619487
HP:0001433	Hepatosplenomegaly	100147744	RNU7-1	ORPHA:51
HP:0001433	Hepatosplenomegaly	374354	NHLRC2	OMIM:618278
HP:0001433	Hepatosplenomegaly	374879	ZNF699	OMIM:619488
HP:0001433	Hepatosplenomegaly	57169	ZNFX1	OMIM:619644
HP:0001433	Hepatosplenomegaly	2263	FGFR2	OMIM:614592
HP:0001433	Hepatosplenomegaly	2263	FGFR2	ORPHA:313855
HP:0001433	Hepatosplenomegaly	5788	PTPRC	OMIM:619924
HP:0001433	Hepatosplenomegaly	51816	ADA2	OMIM:615688
HP:0001433	Hepatosplenomegaly	51473	DCDC2	ORPHA:84081
HP:0001433	Hepatosplenomegaly	91147	TMEM67	ORPHA:84081
HP:0001433	Hepatosplenomegaly	10165	SLC25A13	ORPHA:247598
HP:0001433	Hepatosplenomegaly	9371	KIF3B	OMIM:618955
HP:0001433	Hepatosplenomegaly	5294	PIK3CG	OMIM:619802
HP:0001433	Hepatosplenomegaly	2729	GCLC	ORPHA:33574
HP:0001433	Hepatosplenomegaly	7841	MOGS	ORPHA:79330
HP:0001433	Hepatosplenomegaly	388015	RTL1	ORPHA:96334
HP:0001433	Hepatosplenomegaly	8788	DLK1	ORPHA:96334
HP:0001433	Hepatosplenomegaly	55384	MEG3	ORPHA:96334
HP:0001433	Hepatosplenomegaly	6663	SOX10	OMIM:609136
HP:0001433	Hepatosplenomegaly	114548	NLRP3	OMIM:607115
HP:0001433	Hepatosplenomegaly	91949	COG7	ORPHA:79333
HP:0001433	Hepatosplenomegaly	3718	JAK3	ORPHA:35078
HP:0001433	Hepatosplenomegaly	760	CA2	OMIM:259730
HP:0001433	Hepatosplenomegaly	19	ABCA1	ORPHA:31150
HP:0001433	Hepatosplenomegaly	5314	PKHD1	ORPHA:731
HP:0001433	Hepatosplenomegaly	9968	MED12	OMIM:301068
HP:0001433	Hepatosplenomegaly	3930	LBR	OMIM:215140
HP:0001433	Hepatosplenomegaly	7030	TFE3	OMIM:301066
HP:0001433	Hepatosplenomegaly	5873	RAB27A	OMIM:607624
HP:0001433	Hepatosplenomegaly	84868	HAVCR2	ORPHA:86884
HP:0001433	Hepatosplenomegaly	2193	FARSA	OMIM:619013
HP:0001433	Hepatosplenomegaly	10661	KLF1	OMIM:613673
HP:0001433	Hepatosplenomegaly	5194	PEX13	OMIM:614885
HP:0001433	Hepatosplenomegaly	3458	IFNG	OMIM:618963
HP:0001433	Hepatosplenomegaly	84317	CCDC115	OMIM:616828
HP:0001433	Hepatosplenomegaly	10020	GNE	ORPHA:3166
HP:0001433	Hepatosplenomegaly	83737	ITCH	ORPHA:228426
HP:0001433	Hepatosplenomegaly	9939	RBM8A	OMIM:274000
HP:0001433	Hepatosplenomegaly	57410	SCYL1	ORPHA:466794
HP:0001433	Hepatosplenomegaly	8813	DPM1	ORPHA:79322
HP:0001433	Hepatosplenomegaly	84153	RNASEH2C	OMIM:610329
HP:0001433	Hepatosplenomegaly	84153	RNASEH2C	ORPHA:51
HP:0001433	Hepatosplenomegaly	28962	OSTM1	OMIM:259720
HP:0001433	Hepatosplenomegaly	1513	CTSK	ORPHA:763
HP:0001433	Hepatosplenomegaly	11133	KPTN	ORPHA:397612
HP:0001433	Hepatosplenomegaly	9742	IFT140	OMIM:266920
HP:0001433	Hepatosplenomegaly	10535	RNASEH2A	OMIM:610333
HP:0001433	Hepatosplenomegaly	10535	RNASEH2A	ORPHA:51
HP:0001433	Hepatosplenomegaly	7535	ZAP70	ORPHA:911
HP:0001433	Hepatosplenomegaly	25939	SAMHD1	ORPHA:51
HP:0001433	Hepatosplenomegaly	79621	RNASEH2B	ORPHA:51
HP:0001433	Hepatosplenomegaly	103	ADAR	ORPHA:51
HP:0001433	Hepatosplenomegaly	11277	TREX1	ORPHA:51
HP:0001433	Hepatosplenomegaly	134353	LSM11	ORPHA:51
HP:0001433	Hepatosplenomegaly	64135	IFIH1	ORPHA:51
HP:0001433	Hepatosplenomegaly	4067	LYN	OMIM:620376
HP:0001433	Hepatosplenomegaly	6005	RHAG	ORPHA:71275
HP:0001433	Hepatosplenomegaly	6006	RHCE	ORPHA:71275
HP:0001433	Hepatosplenomegaly	6007	RHD	ORPHA:71275
HP:0001433	Hepatosplenomegaly	950	SCARB2	ORPHA:77259
HP:0001433	Hepatosplenomegaly	8600	TNFSF11	OMIM:259710
HP:0001436	Abnormality of the foot musculature	274	BIN1	ORPHA:169189
HP:0001436	Abnormality of the foot musculature	64419	MTMR14	ORPHA:169189
HP:0001436	Abnormality of the foot musculature	4618	MYF6	ORPHA:169189
HP:0001436	Abnormality of the foot musculature	1785	DNM2	ORPHA:169189
HP:0001436	Abnormality of the foot musculature	6261	RYR1	ORPHA:169189
HP:0001436	Abnormality of the foot musculature	10020	GNE	ORPHA:602
HP:0001436	Abnormality of the foot musculature	26580	BSCL2	ORPHA:100998
HP:0001436	Abnormality of the foot musculature	9987	HNRNPDL	OMIM:609115
HP:0001436	Abnormality of the foot musculature	55958	KLHL9	ORPHA:399081
HP:0001436	Abnormality of the foot musculature	4625	MYH7	OMIM:160500
HP:0001436	Abnormality of the foot musculature	4000	LMNA	ORPHA:98856
HP:0001437	Abnormality of the musculature of the lower limbs	57104	PNPLA2	ORPHA:565612
HP:0001437	Abnormality of the musculature of the lower limbs	55958	KLHL9	ORPHA:399081
HP:0001437	Abnormality of the musculature of the lower limbs	9782	MATR3	ORPHA:600
HP:0001437	Abnormality of the musculature of the lower limbs	4625	MYH7	ORPHA:59135
HP:0001437	Abnormality of the musculature of the lower limbs	203859	ANO5	ORPHA:206549
HP:0001437	Abnormality of the musculature of the lower limbs	2318	FLNC	OMIM:614065
HP:0001437	Abnormality of the musculature of the lower limbs	274	BIN1	ORPHA:169189
HP:0001437	Abnormality of the musculature of the lower limbs	64419	MTMR14	ORPHA:169189
HP:0001437	Abnormality of the musculature of the lower limbs	4618	MYF6	ORPHA:169189
HP:0001437	Abnormality of the musculature of the lower limbs	1785	DNM2	ORPHA:169189
HP:0001437	Abnormality of the musculature of the lower limbs	6261	RYR1	ORPHA:169189
HP:0001437	Abnormality of the musculature of the lower limbs	10020	GNE	ORPHA:602
HP:0001437	Abnormality of the musculature of the lower limbs	26580	BSCL2	ORPHA:100998
HP:0001437	Abnormality of the musculature of the lower limbs	7415	VCP	ORPHA:329478
HP:0001437	Abnormality of the musculature of the lower limbs	22943	DKK1	ORPHA:268882
HP:0001437	Abnormality of the musculature of the lower limbs	57531	HACE1	ORPHA:464282
HP:0001437	Abnormality of the musculature of the lower limbs	6445	SGCG	ORPHA:353
HP:0001437	Abnormality of the musculature of the lower limbs	6445	SGCG	OMIM:253700
HP:0001437	Abnormality of the musculature of the lower limbs	29925	GMPPB	ORPHA:370959
HP:0001437	Abnormality of the musculature of the lower limbs	79147	FKRP	ORPHA:370959
HP:0001437	Abnormality of the musculature of the lower limbs	29954	POMT2	ORPHA:370959
HP:0001437	Abnormality of the musculature of the lower limbs	84197	POMK	ORPHA:370959
HP:0001437	Abnormality of the musculature of the lower limbs	55624	POMGNT1	ORPHA:370959
HP:0001437	Abnormality of the musculature of the lower limbs	10585	POMT1	ORPHA:370959
HP:0001437	Abnormality of the musculature of the lower limbs	1756	DMD	OMIM:300376
HP:0001437	Abnormality of the musculature of the lower limbs	1756	DMD	OMIM:310200
HP:0001437	Abnormality of the musculature of the lower limbs	1605	DAG1	ORPHA:280333
HP:0001437	Abnormality of the musculature of the lower limbs	22954	TRIM32	OMIM:254110
HP:0001437	Abnormality of the musculature of the lower limbs	5468	PPARG	ORPHA:79083
HP:0001437	Abnormality of the musculature of the lower limbs	859	CAV3	ORPHA:488650
HP:0001437	Abnormality of the musculature of the lower limbs	6443	SGCB	OMIM:604286
HP:0001437	Abnormality of the musculature of the lower limbs	4703	NEB	OMIM:256030
HP:0001437	Abnormality of the musculature of the lower limbs	10073	SNUPN	OMIM:620793
HP:0001437	Abnormality of the musculature of the lower limbs	6442	SGCA	ORPHA:62
HP:0001437	Abnormality of the musculature of the lower limbs	729920	CRPPA	ORPHA:352479
HP:0001437	Abnormality of the musculature of the lower limbs	9987	HNRNPDL	OMIM:609115
HP:0001437	Abnormality of the musculature of the lower limbs	1778	DYNC1H1	OMIM:158600
HP:0001437	Abnormality of the musculature of the lower limbs	203547	VMA21	OMIM:310440
HP:0001437	Abnormality of the musculature of the lower limbs	4747	NEFL	ORPHA:101085
HP:0001437	Abnormality of the musculature of the lower limbs	6607	SMN2	OMIM:253400
HP:0001437	Abnormality of the musculature of the lower limbs	2010	EMD	ORPHA:98863
HP:0001437	Abnormality of the musculature of the lower limbs	79188	TMEM43	ORPHA:98853
HP:0001437	Abnormality of the musculature of the lower limbs	23345	SYNE1	ORPHA:98853
HP:0001437	Abnormality of the musculature of the lower limbs	23224	SYNE2	ORPHA:98853
HP:0001437	Abnormality of the musculature of the lower limbs	2201	FBN2	OMIM:121050
HP:0001437	Abnormality of the musculature of the lower limbs	5376	PMP22	ORPHA:90658
HP:0001437	Abnormality of the musculature of the lower limbs	4000	LMNA	ORPHA:280365
HP:0001437	Abnormality of the musculature of the lower limbs	6736	SRY	ORPHA:1772
HP:0001437	Abnormality of the musculature of the lower limbs	5921	RASA1	ORPHA:90307
HP:0001437	Abnormality of the musculature of the lower limbs	1180	CLCN1	OMIM:255700
HP:0001437	Abnormality of the musculature of the lower limbs	9829	DNAJC6	ORPHA:391411
HP:0001437	Abnormality of the musculature of the lower limbs	5420	PODXL	ORPHA:391411
HP:0001437	Abnormality of the musculature of the lower limbs	8867	SYNJ1	ORPHA:391411
HP:0001437	Abnormality of the musculature of the lower limbs	8867	SYNJ1	OMIM:615530
HP:0001437	Abnormality of the musculature of the lower limbs	55129	ANO10	ORPHA:284289
HP:0001437	Abnormality of the musculature of the lower limbs	547	KIF1A	ORPHA:101010
HP:0001437	Abnormality of the musculature of the lower limbs	1410	CRYAB	OMIM:608810
HP:0001437	Abnormality of the musculature of the lower limbs	3798	KIF5A	ORPHA:100991
HP:0001437	Abnormality of the musculature of the lower limbs	5297	PI4KA	OMIM:619621
HP:0001437	Abnormality of the musculature of the lower limbs	23503	ZFYVE26	ORPHA:100996
HP:0001437	Abnormality of the musculature of the lower limbs	6683	SPAST	ORPHA:100985
HP:0001437	Abnormality of the musculature of the lower limbs	23400	ATP13A2	ORPHA:306674
HP:0001437	Abnormality of the musculature of the lower limbs	23400	ATP13A2	OMIM:606693
HP:0001437	Abnormality of the musculature of the lower limbs	215	ABCD1	ORPHA:139399
HP:0001437	Abnormality of the musculature of the lower limbs	55157	DARS2	ORPHA:137898
HP:0001437	Abnormality of the musculature of the lower limbs	4508	MT-ATP6	ORPHA:320360
HP:0001437	Abnormality of the musculature of the lower limbs	6843	VAMP1	OMIM:108600
HP:0001437	Abnormality of the musculature of the lower limbs	6843	VAMP1	ORPHA:251282
HP:0001437	Abnormality of the musculature of the lower limbs	11155	LDB3	ORPHA:98912
HP:0001437	Abnormality of the musculature of the lower limbs	7273	TTN	OMIM:603689
HP:0001437	Abnormality of the musculature of the lower limbs	7273	TTN	ORPHA:178464
HP:0001437	Abnormality of the musculature of the lower limbs	7273	TTN	OMIM:611705
HP:0001437	Abnormality of the musculature of the lower limbs	10367	MICU1	OMIM:615673
HP:0001437	Abnormality of the musculature of the lower limbs	6606	SMN1	OMIM:271150
HP:0001437	Abnormality of the musculature of the lower limbs	2218	FKTN	OMIM:253800
HP:0001437	Abnormality of the musculature of the lower limbs	2218	FKTN	OMIM:611615
HP:0001437	Abnormality of the musculature of the lower limbs	2218	FKTN	OMIM:611588
HP:0001437	Abnormality of the musculature of the lower limbs	5339	PLEC	ORPHA:254361
HP:0001437	Abnormality of the musculature of the lower limbs	8291	DYSF	ORPHA:268
HP:0001437	Abnormality of the musculature of the lower limbs	8291	DYSF	ORPHA:45448
HP:0001437	Abnormality of the musculature of the lower limbs	825	CAPN3	ORPHA:267
HP:0001437	Abnormality of the musculature of the lower limbs	5346	PLIN1	ORPHA:280356
HP:0001437	Abnormality of the musculature of the lower limbs	6576	SLC25A1	OMIM:618197
HP:0001437	Abnormality of the musculature of the lower limbs	63924	CIDEC	ORPHA:435651
HP:0001437	Abnormality of the musculature of the lower limbs	400916	CHCHD10	OMIM:615048
HP:0001437	Abnormality of the musculature of the lower limbs	3736	KCNA1	ORPHA:37612
HP:0001437	Abnormality of the musculature of the lower limbs	9215	LARGE1	OMIM:608840
HP:0001437	Abnormality of the musculature of the lower limbs	9215	LARGE1	ORPHA:370968
HP:0001437	Abnormality of the musculature of the lower limbs	6444	SGCD	OMIM:601287
HP:0001437	Abnormality of the musculature of the lower limbs	2483	FRG1	OMIM:158900
HP:0001437	Abnormality of the musculature of the lower limbs	146862	UNC45B	OMIM:619178
HP:0001437	Abnormality of the musculature of the lower limbs	64208	POPDC3	OMIM:618848
HP:0001437	Abnormality of the musculature of the lower limbs	80208	SPG11	OMIM:616668
HP:0001437	Abnormality of the musculature of the lower limbs	55679	LIMS2	OMIM:616827
HP:0001437	Abnormality of the musculature of the lower limbs	7555	CNBP	ORPHA:606
HP:0001437	Abnormality of the musculature of the lower limbs	9217	VAPB	ORPHA:209335
HP:0001437	Abnormality of the musculature of the lower limbs	84892	POMGNT2	OMIM:618135
HP:0001437	Abnormality of the musculature of the lower limbs	8557	TCAP	OMIM:601954
HP:0001437	Abnormality of the musculature of the lower limbs	54344	DPM3	ORPHA:263494
HP:0001437	Abnormality of the musculature of the lower limbs	51776	MAP3K20	OMIM:617760
HP:0001437	Abnormality of the musculature of the lower limbs	3908	LAMA2	OMIM:618138
HP:0001437	Abnormality of the musculature of the lower limbs	8449	DHX16	OMIM:618733
HP:0001437	Abnormality of the musculature of the lower limbs	367	AR	OMIM:313200
HP:0001437	Abnormality of the musculature of the lower limbs	3156	HMGCR	OMIM:620375
HP:0001437	Abnormality of the musculature of the lower limbs	8425	LTBP4	ORPHA:98896
HP:0001437	Abnormality of the musculature of the lower limbs	9897	WASHC5	ORPHA:100989
HP:0001437	Abnormality of the musculature of the lower limbs	3094	HINT1	ORPHA:324442
HP:0001437	Abnormality of the musculature of the lower limbs	65055	REEP1	OMIM:614751
HP:0001437	Abnormality of the musculature of the lower limbs	23230	VPS13A	ORPHA:2388
HP:0001437	Abnormality of the musculature of the lower limbs	3708	ITPR1	OMIM:117360
HP:0001437	Abnormality of the musculature of the lower limbs	1674	DES	OMIM:181400
HP:0001437	Abnormality of the musculature of the lower limbs	59341	TRPV4	OMIM:181405
HP:0001437	Abnormality of the musculature of the lower limbs	26278	SACS	OMIM:270550
HP:0001437	Abnormality of the musculature of the lower limbs	122622	ADSS1	ORPHA:482601
HP:0001437	Abnormality of the musculature of the lower limbs	10558	SPTLC1	OMIM:620285
HP:0001437	Abnormality of the musculature of the lower limbs	2273	FHL1	OMIM:300695
HP:0001437	Abnormality of the musculature of the lower limbs	4010	LMX1B	OMIM:161200
HP:0001438	Abnormal abdomen morphology	3655	ITGA6	ORPHA:79403
HP:0001438	Abnormal abdomen morphology	3691	ITGB4	ORPHA:79403
HP:0001438	Abnormal abdomen morphology	3691	ITGB4	ORPHA:158684
HP:0001438	Abnormal abdomen morphology	80781	COL18A1	OMIM:267750
HP:0001438	Abnormal abdomen morphology	9839	ZEB2	ORPHA:261537
HP:0001438	Abnormal abdomen morphology	9839	ZEB2	ORPHA:261552
HP:0001438	Abnormal abdomen morphology	4920	ROR2	OMIM:268310
HP:0001438	Abnormal abdomen morphology	2177	FANCD2	OMIM:227646
HP:0001438	Abnormal abdomen morphology	284058	KANSL1	ORPHA:363965
HP:0001438	Abnormal abdomen morphology	284058	KANSL1	ORPHA:363958
HP:0001438	Abnormal abdomen morphology	5339	PLEC	ORPHA:158684
HP:0001438	Abnormal abdomen morphology	6804	STX1A	ORPHA:904
HP:0001438	Abnormal abdomen morphology	7461	CLIP2	ORPHA:904
HP:0001438	Abnormal abdomen morphology	84277	DNAJC30	ORPHA:904
HP:0001438	Abnormal abdomen morphology	8468	FKBP6	ORPHA:904
HP:0001438	Abnormal abdomen morphology	5982	RFC2	ORPHA:904
HP:0001438	Abnormal abdomen morphology	2969	GTF2I	ORPHA:904
HP:0001438	Abnormal abdomen morphology	3984	LIMK1	ORPHA:904
HP:0001438	Abnormal abdomen morphology	9569	GTF2IRD1	ORPHA:904
HP:0001438	Abnormal abdomen morphology	155382	VPS37D	ORPHA:904
HP:0001438	Abnormal abdomen morphology	155368	METTL27	ORPHA:904
HP:0001438	Abnormal abdomen morphology	114049	BUD23	ORPHA:904
HP:0001438	Abnormal abdomen morphology	7458	EIF4H	ORPHA:904
HP:0001438	Abnormal abdomen morphology	84163	GTF2IRD2	ORPHA:904
HP:0001438	Abnormal abdomen morphology	26608	TBL2	ORPHA:904
HP:0001438	Abnormal abdomen morphology	135886	TMEM270	ORPHA:904
HP:0001438	Abnormal abdomen morphology	9031	BAZ1B	ORPHA:904
HP:0001438	Abnormal abdomen morphology	2006	ELN	ORPHA:904
HP:0001438	Abnormal abdomen morphology	145173	B3GLCT	ORPHA:709
HP:0001438	Abnormal abdomen morphology	2303	FOXC2	ORPHA:33001
HP:0001438	Abnormal abdomen morphology	6231	RPS26	OMIM:613309
HP:0001438	Abnormal abdomen morphology	7474	WNT5A	OMIM:180700
HP:0001438	Abnormal abdomen morphology	10653	SPINT2	OMIM:270420
HP:0001438	Abnormal abdomen morphology	3071	NCKAP1L	OMIM:618982
HP:0001438	Abnormal abdomen morphology	55823	VPS11	ORPHA:466934
HP:0001438	Abnormal abdomen morphology	5880	RAC2	OMIM:618986
HP:0001438	Abnormal abdomen morphology	79722	ANKRD55	ORPHA:85408
HP:0001438	Abnormal abdomen morphology	26191	PTPN22	ORPHA:85408
HP:0001438	Abnormal abdomen morphology	919	CD247	ORPHA:85408
HP:0001438	Abnormal abdomen morphology	919	CD247	ORPHA:169160
HP:0001438	Abnormal abdomen morphology	3559	IL2RA	ORPHA:85408
HP:0001438	Abnormal abdomen morphology	3559	IL2RA	OMIM:606367
HP:0001438	Abnormal abdomen morphology	5771	PTPN2	ORPHA:85408
HP:0001438	Abnormal abdomen morphology	3716	JAK1	OMIM:618999
HP:0001438	Abnormal abdomen morphology	2122	MECOM	OMIM:616738
HP:0001438	Abnormal abdomen morphology	9382	COG1	ORPHA:263508
HP:0001438	Abnormal abdomen morphology	5251	PHEX	OMIM:307800
HP:0001438	Abnormal abdomen morphology	915	CD3D	ORPHA:169160
HP:0001438	Abnormal abdomen morphology	916	CD3E	ORPHA:169160
HP:0001438	Abnormal abdomen morphology	1777	DNASE2	OMIM:619858
HP:0001438	Abnormal abdomen morphology	3376	IARS1	ORPHA:541423
HP:0001438	Abnormal abdomen morphology	26154	ABCA12	OMIM:601277
HP:0001438	Abnormal abdomen morphology	7289	TULP3	OMIM:619902
HP:0001438	Abnormal abdomen morphology	672	BRCA1	ORPHA:1333
HP:0001438	Abnormal abdomen morphology	285282	RABL3	ORPHA:1333
HP:0001438	Abnormal abdomen morphology	1029	CDKN2A	ORPHA:1333
HP:0001438	Abnormal abdomen morphology	79728	PALB2	ORPHA:1333
HP:0001438	Abnormal abdomen morphology	4089	SMAD4	ORPHA:1333
HP:0001438	Abnormal abdomen morphology	23022	PALLD	ORPHA:1333
HP:0001438	Abnormal abdomen morphology	970	CD70	OMIM:618261
HP:0001438	Abnormal abdomen morphology	3572	IL6ST	OMIM:619750
HP:0001438	Abnormal abdomen morphology	6774	STAT3	OMIM:615952
HP:0001438	Abnormal abdomen morphology	8517	IKBKG	OMIM:301081
HP:0001438	Abnormal abdomen morphology	2263	FGFR2	OMIM:614592
HP:0001438	Abnormal abdomen morphology	2263	FGFR2	ORPHA:313855
HP:0001438	Abnormal abdomen morphology	5788	PTPRC	OMIM:619924
HP:0001438	Abnormal abdomen morphology	9371	KIF3B	OMIM:618955
HP:0001438	Abnormal abdomen morphology	2729	GCLC	ORPHA:33574
HP:0001438	Abnormal abdomen morphology	3718	JAK3	ORPHA:35078
HP:0001438	Abnormal abdomen morphology	2193	FARSA	OMIM:619013
HP:0001438	Abnormal abdomen morphology	9939	RBM8A	OMIM:274000
HP:0001438	Abnormal abdomen morphology	84153	RNASEH2C	OMIM:610329
HP:0001438	Abnormal abdomen morphology	84153	RNASEH2C	ORPHA:51
HP:0001438	Abnormal abdomen morphology	1513	CTSK	ORPHA:763
HP:0001438	Abnormal abdomen morphology	25939	SAMHD1	ORPHA:51
HP:0001438	Abnormal abdomen morphology	79621	RNASEH2B	ORPHA:51
HP:0001438	Abnormal abdomen morphology	134353	LSM11	ORPHA:51
HP:0001438	Abnormal abdomen morphology	6006	RHCE	ORPHA:71275
HP:0001438	Abnormal abdomen morphology	91147	TMEM67	OMIM:216360
HP:0001438	Abnormal abdomen morphology	6711	SPTBN1	OMIM:619475
HP:0001438	Abnormal abdomen morphology	157570	ESCO2	OMIM:216100
HP:0001438	Abnormal abdomen morphology	57192	MCOLN1	OMIM:252650
HP:0001438	Abnormal abdomen morphology	10159	ATP6AP2	OMIM:301045
HP:0001438	Abnormal abdomen morphology	83483	PLVAP	OMIM:618183
HP:0001438	Abnormal abdomen morphology	171023	ASXL1	ORPHA:98850
HP:0001438	Abnormal abdomen morphology	54790	TET2	ORPHA:98850
HP:0001438	Abnormal abdomen morphology	867	CBL	ORPHA:98850
HP:0001438	Abnormal abdomen morphology	861	RUNX1	ORPHA:98850
HP:0001438	Abnormal abdomen morphology	6427	SRSF2	ORPHA:98850
HP:0001438	Abnormal abdomen morphology	51422	PRKAG2	OMIM:261740
HP:0001438	Abnormal abdomen morphology	10112	KIF20A	OMIM:619433
HP:0001438	Abnormal abdomen morphology	9780	PIEZO1	OMIM:616843
HP:0001438	Abnormal abdomen morphology	2632	GBE1	OMIM:232500
HP:0001438	Abnormal abdomen morphology	8425	LTBP4	OMIM:613177
HP:0001438	Abnormal abdomen morphology	25821	MTO1	OMIM:614702
HP:0001438	Abnormal abdomen morphology	3932	LCK	OMIM:615758
HP:0001438	Abnormal abdomen morphology	3875	KRT18	OMIM:215600
HP:0001438	Abnormal abdomen morphology	6775	STAT4	ORPHA:93552
HP:0001438	Abnormal abdomen morphology	6696	SPP1	ORPHA:93552
HP:0001438	Abnormal abdomen morphology	6303	SAT1	ORPHA:93552
HP:0001438	Abnormal abdomen morphology	3654	IRAK1	ORPHA:93552
HP:0001438	Abnormal abdomen morphology	79796	ALG9	OMIM:608776
HP:0001438	Abnormal abdomen morphology	1776	DNASE1L3	ORPHA:36412
HP:0001438	Abnormal abdomen morphology	4758	NEU1	OMIM:256550
HP:0001438	Abnormal abdomen morphology	4758	NEU1	ORPHA:93400
HP:0001438	Abnormal abdomen morphology	596	BCL2	ORPHA:545
HP:0001438	Abnormal abdomen morphology	3492	IGH	ORPHA:545
HP:0001438	Abnormal abdomen morphology	3123	HLA-DRB1	ORPHA:545
HP:0001438	Abnormal abdomen morphology	604	BCL6	ORPHA:545
HP:0001438	Abnormal abdomen morphology	2629	GBA1	OMIM:608013
HP:0001438	Abnormal abdomen morphology	2629	GBA1	ORPHA:77259
HP:0001438	Abnormal abdomen morphology	5314	PKHD1	ORPHA:53035
HP:0001438	Abnormal abdomen morphology	5314	PKHD1	ORPHA:731
HP:0001438	Abnormal abdomen morphology	56945	MRPS22	OMIM:611719
HP:0001438	Abnormal abdomen morphology	197131	UBR1	OMIM:243800
HP:0001438	Abnormal abdomen morphology	23395	LARS2	OMIM:617021
HP:0001438	Abnormal abdomen morphology	939	CD27	OMIM:615122
HP:0001438	Abnormal abdomen morphology	2130	EWSR1	ORPHA:83469
HP:0001438	Abnormal abdomen morphology	7490	WT1	ORPHA:83469
HP:0001438	Abnormal abdomen morphology	2050	EPHB4	OMIM:617300
HP:0001438	Abnormal abdomen morphology	23426	GRIP1	OMIM:617667
HP:0001438	Abnormal abdomen morphology	54345	SOX18	ORPHA:69735
HP:0001438	Abnormal abdomen morphology	10216	PRG4	ORPHA:2848
HP:0001438	Abnormal abdomen morphology	7248	TSC1	ORPHA:538
HP:0001438	Abnormal abdomen morphology	7249	TSC2	ORPHA:538
HP:0001438	Abnormal abdomen morphology	3930	LBR	ORPHA:779
HP:0001438	Abnormal abdomen morphology	2592	GALT	ORPHA:79239
HP:0001438	Abnormal abdomen morphology	427	ASAH1	ORPHA:333
HP:0001438	Abnormal abdomen morphology	51473	DCDC2	OMIM:617394
HP:0001438	Abnormal abdomen morphology	51473	DCDC2	ORPHA:84081
HP:0001438	Abnormal abdomen morphology	2859	GPR35	ORPHA:171
HP:0001438	Abnormal abdomen morphology	10507	SEMA4D	ORPHA:171
HP:0001438	Abnormal abdomen morphology	4485	MST1	ORPHA:171
HP:0001438	Abnormal abdomen morphology	6925	TCF4	ORPHA:171
HP:0001438	Abnormal abdomen morphology	50619	DEF6	OMIM:619573
HP:0001438	Abnormal abdomen morphology	7019	TFAM	OMIM:617156
HP:0001438	Abnormal abdomen morphology	11274	USP18	OMIM:617397
HP:0001438	Abnormal abdomen morphology	4358	MPV17	OMIM:256810
HP:0001438	Abnormal abdomen morphology	55109	AGGF1	ORPHA:90308
HP:0001438	Abnormal abdomen morphology	5290	PIK3CA	ORPHA:90308
HP:0001438	Abnormal abdomen morphology	2492	FSHR	OMIM:608115
HP:0001438	Abnormal abdomen morphology	2492	FSHR	ORPHA:64739
HP:0001438	Abnormal abdomen morphology	3431	SP110	ORPHA:79124
HP:0001438	Abnormal abdomen morphology	1716	DGUOK	OMIM:251880
HP:0001438	Abnormal abdomen morphology	9184	BUB3	ORPHA:1052
HP:0001438	Abnormal abdomen morphology	699	BUB1	ORPHA:1052
HP:0001438	Abnormal abdomen morphology	9702	CEP57	ORPHA:1052
HP:0001438	Abnormal abdomen morphology	9319	TRIP13	ORPHA:1052
HP:0001438	Abnormal abdomen morphology	701	BUB1B	ORPHA:1052
HP:0001438	Abnormal abdomen morphology	5277	PIGA	OMIM:300868
HP:0001438	Abnormal abdomen morphology	55340	GIMAP5	OMIM:619463
HP:0001438	Abnormal abdomen morphology	4591	TRIM37	OMIM:253250
HP:0001438	Abnormal abdomen morphology	9971	NR1H4	OMIM:617049
HP:0001438	Abnormal abdomen morphology	9971	NR1H4	ORPHA:69665
HP:0001438	Abnormal abdomen morphology	79053	ALG8	OMIM:608104
HP:0001438	Abnormal abdomen morphology	79053	ALG8	ORPHA:79325
HP:0001438	Abnormal abdomen morphology	63901	FAM111A	OMIM:602361
HP:0001438	Abnormal abdomen morphology	2313	FLI1	ORPHA:370348
HP:0001438	Abnormal abdomen morphology	650	BMP2	OMIM:235200
HP:0001438	Abnormal abdomen morphology	3077	HFE	OMIM:235200
HP:0001438	Abnormal abdomen morphology	129563	DIS3L2	OMIM:267000
HP:0001438	Abnormal abdomen morphology	4607	MYBPC3	OMIM:115197
HP:0001438	Abnormal abdomen morphology	5167	ENPP1	ORPHA:51608
HP:0001438	Abnormal abdomen morphology	368	ABCC6	ORPHA:51608
HP:0001438	Abnormal abdomen morphology	54914	FOCAD	OMIM:619991
HP:0001438	Abnormal abdomen morphology	222546	RFX6	OMIM:615710
HP:0001438	Abnormal abdomen morphology	9508	ADAMTS3	ORPHA:2136
HP:0001438	Abnormal abdomen morphology	147372	CCBE1	ORPHA:2136
HP:0001438	Abnormal abdomen morphology	79633	FAT4	ORPHA:2136
HP:0001438	Abnormal abdomen morphology	540	ATP7B	ORPHA:905
HP:0001438	Abnormal abdomen morphology	540	ATP7B	OMIM:277900
HP:0001438	Abnormal abdomen morphology	10056	FARSB	OMIM:613658
HP:0001438	Abnormal abdomen morphology	5428	POLG	OMIM:203700
HP:0001438	Abnormal abdomen morphology	5589	PRKCSH	OMIM:174050
HP:0001438	Abnormal abdomen morphology	6609	SMPD1	OMIM:257200
HP:0001438	Abnormal abdomen morphology	4210	MEFV	ORPHA:342
HP:0001438	Abnormal abdomen morphology	2990	GUSB	ORPHA:584
HP:0001438	Abnormal abdomen morphology	81	ACTN4	OMIM:603278
HP:0001438	Abnormal abdomen morphology	5244	ABCB4	OMIM:602347
HP:0001438	Abnormal abdomen morphology	5244	ABCB4	ORPHA:69665
HP:0001438	Abnormal abdomen morphology	3594	IL12RB1	ORPHA:186
HP:0001438	Abnormal abdomen morphology	23534	TNPO3	ORPHA:186
HP:0001438	Abnormal abdomen morphology	3592	IL12A	ORPHA:186
HP:0001438	Abnormal abdomen morphology	6689	SPIB	ORPHA:186
HP:0001438	Abnormal abdomen morphology	5450	POU2AF1	ORPHA:186
HP:0001438	Abnormal abdomen morphology	9966	TNFSF15	ORPHA:186
HP:0001438	Abnormal abdomen morphology	79258	MMEL1	ORPHA:186
HP:0001438	Abnormal abdomen morphology	3663	IRF5	ORPHA:186
HP:0001438	Abnormal abdomen morphology	100147744	RNU7-1	OMIM:619487
HP:0001438	Abnormal abdomen morphology	5205	ATP8B1	ORPHA:69665
HP:0001438	Abnormal abdomen morphology	8647	ABCB11	ORPHA:69665
HP:0001438	Abnormal abdomen morphology	202018	TAPT1	OMIM:616897
HP:0001438	Abnormal abdomen morphology	5573	PRKAR1A	ORPHA:615
HP:0001438	Abnormal abdomen morphology	3516	RBPJ	ORPHA:974
HP:0001438	Abnormal abdomen morphology	4851	NOTCH1	ORPHA:974
HP:0001438	Abnormal abdomen morphology	57514	ARHGAP31	ORPHA:974
HP:0001438	Abnormal abdomen morphology	57572	DOCK6	ORPHA:974
HP:0001438	Abnormal abdomen morphology	285203	EOGT	ORPHA:974
HP:0001438	Abnormal abdomen morphology	54567	DLL4	ORPHA:974
HP:0001438	Abnormal abdomen morphology	199221	DZIP1L	ORPHA:731
HP:0001438	Abnormal abdomen morphology	2767	GNA11	ORPHA:1556
HP:0001438	Abnormal abdomen morphology	151188	ARL6IP6	ORPHA:1556
HP:0001438	Abnormal abdomen morphology	2271	FH	OMIM:606812
HP:0001438	Abnormal abdomen morphology	3988	LIPA	ORPHA:75233
HP:0001438	Abnormal abdomen morphology	811	CALR	ORPHA:131
HP:0001438	Abnormal abdomen morphology	3717	JAK2	ORPHA:131
HP:0001438	Abnormal abdomen morphology	2153	F5	ORPHA:131
HP:0001438	Abnormal abdomen morphology	79989	IFT56	OMIM:619534
HP:0001438	Abnormal abdomen morphology	26503	SLC17A5	OMIM:269920
HP:0001438	Abnormal abdomen morphology	79651	RHBDF2	ORPHA:2198
HP:0001438	Abnormal abdomen morphology	6329	SCN4A	OMIM:620369
HP:0001438	Abnormal abdomen morphology	2184	FAH	OMIM:276700
HP:0001438	Abnormal abdomen morphology	2072	ERCC4	OMIM:610965
HP:0001438	Abnormal abdomen morphology	55901	THSD1	OMIM:620244
HP:0001438	Abnormal abdomen morphology	9451	EIF2AK3	ORPHA:1667
HP:0001438	Abnormal abdomen morphology	28962	OSTM1	OMIM:259720
HP:0001438	Abnormal abdomen morphology	57539	WDR35	OMIM:614091
HP:0001438	Abnormal abdomen morphology	1536	CYBB	OMIM:306400
HP:0001438	Abnormal abdomen morphology	1604	CD55	OMIM:226300
HP:0001438	Abnormal abdomen morphology	950	SCARB2	ORPHA:77259
HP:0001438	Abnormal abdomen morphology	1497	CTNS	OMIM:219800
HP:0001438	Abnormal abdomen morphology	5728	PTEN	OMIM:605309
HP:0001438	Abnormal abdomen morphology	5728	PTEN	ORPHA:2969
HP:0001438	Abnormal abdomen morphology	5728	PTEN	ORPHA:397596
HP:0001438	Abnormal abdomen morphology	7293	TNFRSF4	OMIM:615593
HP:0001438	Abnormal abdomen morphology	1493	CTLA4	ORPHA:436159
HP:0001438	Abnormal abdomen morphology	1493	CTLA4	OMIM:616100
HP:0001438	Abnormal abdomen morphology	1493	CTLA4	ORPHA:3162
HP:0001438	Abnormal abdomen morphology	1493	CTLA4	ORPHA:2584
HP:0001438	Abnormal abdomen morphology	5993	RFX5	OMIM:620816
HP:0001438	Abnormal abdomen morphology	5994	RFXAP	OMIM:620817
HP:0001438	Abnormal abdomen morphology	3783	KCNN4	OMIM:616689
HP:0001438	Abnormal abdomen morphology	3783	KCNN4	ORPHA:3202
HP:0001438	Abnormal abdomen morphology	3145	HMBS	OMIM:620704
HP:0001438	Abnormal abdomen morphology	1161	ERCC8	ORPHA:90324
HP:0001438	Abnormal abdomen morphology	1161	ERCC8	OMIM:216400
HP:0001438	Abnormal abdomen morphology	2074	ERCC6	ORPHA:90324
HP:0001438	Abnormal abdomen morphology	2074	ERCC6	OMIM:133540
HP:0001438	Abnormal abdomen morphology	8573	CASK	OMIM:300908
HP:0001438	Abnormal abdomen morphology	2539	G6PD	OMIM:300908
HP:0001438	Abnormal abdomen morphology	55240	STEAP3	OMIM:615234
HP:0001438	Abnormal abdomen morphology	4860	PNP	OMIM:613179
HP:0001438	Abnormal abdomen morphology	19	ABCA1	OMIM:205400
HP:0001438	Abnormal abdomen morphology	2720	GLB1	OMIM:230600
HP:0001438	Abnormal abdomen morphology	2720	GLB1	OMIM:230650
HP:0001438	Abnormal abdomen morphology	2720	GLB1	OMIM:230500
HP:0001438	Abnormal abdomen morphology	755	CFAP410	OMIM:602271
HP:0001438	Abnormal abdomen morphology	148738	HJV	OMIM:602390
HP:0001438	Abnormal abdomen morphology	80270	HSD3B7	ORPHA:79301
HP:0001438	Abnormal abdomen morphology	80270	HSD3B7	OMIM:607765
HP:0001438	Abnormal abdomen morphology	5604	MAP2K1	ORPHA:389
HP:0001438	Abnormal abdomen morphology	4893	NRAS	ORPHA:389
HP:0001438	Abnormal abdomen morphology	4893	NRAS	OMIM:614470
HP:0001438	Abnormal abdomen morphology	673	BRAF	ORPHA:389
HP:0001438	Abnormal abdomen morphology	673	BRAF	OMIM:115150
HP:0001438	Abnormal abdomen morphology	84433	CARD11	OMIM:616452
HP:0001438	Abnormal abdomen morphology	5184	PEPD	OMIM:170100
HP:0001438	Abnormal abdomen morphology	5184	PEPD	ORPHA:742
HP:0001438	Abnormal abdomen morphology	65082	VPS33A	OMIM:617303
HP:0001438	Abnormal abdomen morphology	84936	ZFYVE19	OMIM:619849
HP:0001438	Abnormal abdomen morphology	10730	YME1L1	OMIM:617302
HP:0001438	Abnormal abdomen morphology	55768	NGLY1	ORPHA:404454
HP:0001438	Abnormal abdomen morphology	79158	GNPTAB	OMIM:252500
HP:0001438	Abnormal abdomen morphology	79158	GNPTAB	OMIM:252600
HP:0001438	Abnormal abdomen morphology	79158	GNPTAB	ORPHA:576
HP:0001438	Abnormal abdomen morphology	4688	NCF2	ORPHA:379
HP:0001438	Abnormal abdomen morphology	4688	NCF2	OMIM:233710
HP:0001438	Abnormal abdomen morphology	1535	CYBA	ORPHA:379
HP:0001438	Abnormal abdomen morphology	1535	CYBA	OMIM:233690
HP:0001438	Abnormal abdomen morphology	4689	NCF4	ORPHA:379
HP:0001438	Abnormal abdomen morphology	653361	NCF1	ORPHA:379
HP:0001438	Abnormal abdomen morphology	653361	NCF1	OMIM:233700
HP:0001438	Abnormal abdomen morphology	79415	CYBC1	ORPHA:379
HP:0001438	Abnormal abdomen morphology	79415	CYBC1	OMIM:618935
HP:0001438	Abnormal abdomen morphology	6772	STAT1	OMIM:614162
HP:0001438	Abnormal abdomen morphology	115650	TNFRSF13C	OMIM:240500
HP:0001438	Abnormal abdomen morphology	115650	TNFRSF13C	ORPHA:1572
HP:0001438	Abnormal abdomen morphology	29851	ICOS	OMIM:240500
HP:0001438	Abnormal abdomen morphology	29851	ICOS	OMIM:607594
HP:0001438	Abnormal abdomen morphology	29851	ICOS	ORPHA:1572
HP:0001438	Abnormal abdomen morphology	930	CD19	OMIM:240500
HP:0001438	Abnormal abdomen morphology	930	CD19	ORPHA:1572
HP:0001438	Abnormal abdomen morphology	23495	TNFRSF13B	OMIM:240500
HP:0001438	Abnormal abdomen morphology	23495	TNFRSF13B	ORPHA:1572
HP:0001438	Abnormal abdomen morphology	1380	CR2	OMIM:240500
HP:0001438	Abnormal abdomen morphology	1380	CR2	ORPHA:1572
HP:0001438	Abnormal abdomen morphology	1380	CR2	OMIM:614699
HP:0001438	Abnormal abdomen morphology	60561	RINT1	OMIM:618641
HP:0001438	Abnormal abdomen morphology	103	ADAR	OMIM:615010
HP:0001438	Abnormal abdomen morphology	6573	SLC19A1	OMIM:620603
HP:0001438	Abnormal abdomen morphology	3423	IDS	ORPHA:217085
HP:0001438	Abnormal abdomen morphology	3423	IDS	OMIM:309900
HP:0001438	Abnormal abdomen morphology	3423	IDS	ORPHA:217093
HP:0001438	Abnormal abdomen morphology	1441	CSF3R	OMIM:162830
HP:0001438	Abnormal abdomen morphology	2035	EPB41	ORPHA:288
HP:0001438	Abnormal abdomen morphology	2035	EPB41	OMIM:611804
HP:0001438	Abnormal abdomen morphology	2995	GYPC	ORPHA:288
HP:0001438	Abnormal abdomen morphology	6710	SPTB	ORPHA:288
HP:0001438	Abnormal abdomen morphology	6710	SPTB	ORPHA:822
HP:0001438	Abnormal abdomen morphology	6710	SPTB	OMIM:616649
HP:0001438	Abnormal abdomen morphology	6708	SPTA1	ORPHA:288
HP:0001438	Abnormal abdomen morphology	6708	SPTA1	ORPHA:822
HP:0001438	Abnormal abdomen morphology	1130	LYST	ORPHA:167
HP:0001438	Abnormal abdomen morphology	1130	LYST	OMIM:214500
HP:0001438	Abnormal abdomen morphology	3043	HBB	ORPHA:231242
HP:0001438	Abnormal abdomen morphology	3043	HBB	ORPHA:46532
HP:0001438	Abnormal abdomen morphology	3043	HBB	ORPHA:231214
HP:0001438	Abnormal abdomen morphology	3043	HBB	ORPHA:231222
HP:0001438	Abnormal abdomen morphology	3043	HBB	ORPHA:231226
HP:0001438	Abnormal abdomen morphology	3043	HBB	ORPHA:251380
HP:0001438	Abnormal abdomen morphology	3043	HBB	OMIM:603903
HP:0001438	Abnormal abdomen morphology	3043	HBB	OMIM:603902
HP:0001438	Abnormal abdomen morphology	3043	HBB	ORPHA:2133
HP:0001438	Abnormal abdomen morphology	3043	HBB	ORPHA:90039
HP:0001438	Abnormal abdomen morphology	57231	SNX14	OMIM:616354
HP:0001438	Abnormal abdomen morphology	28755	TRAC	OMIM:615387
HP:0001438	Abnormal abdomen morphology	2623	GATA1	OMIM:314050
HP:0001438	Abnormal abdomen morphology	2623	GATA1	ORPHA:231393
HP:0001438	Abnormal abdomen morphology	2623	GATA1	ORPHA:79277
HP:0001438	Abnormal abdomen morphology	1371	CPOX	OMIM:618892
HP:0001438	Abnormal abdomen morphology	1371	CPOX	OMIM:121300
HP:0001438	Abnormal abdomen morphology	80739	MPIG6B	OMIM:617441
HP:0001438	Abnormal abdomen morphology	10125	RASGRP1	OMIM:618534
HP:0001438	Abnormal abdomen morphology	4645	MYO5B	OMIM:619868
HP:0001438	Abnormal abdomen morphology	3039	HBA1	ORPHA:163596
HP:0001438	Abnormal abdomen morphology	3039	HBA1	OMIM:613978
HP:0001438	Abnormal abdomen morphology	3040	HBA2	ORPHA:163596
HP:0001438	Abnormal abdomen morphology	3040	HBA2	OMIM:613978
HP:0001438	Abnormal abdomen morphology	10019	SH2B3	OMIM:133100
HP:0001438	Abnormal abdomen morphology	10019	SH2B3	ORPHA:3318
HP:0001438	Abnormal abdomen morphology	10019	SH2B3	OMIM:187950
HP:0001438	Abnormal abdomen morphology	10019	SH2B3	OMIM:254450
HP:0001438	Abnormal abdomen morphology	2057	EPOR	OMIM:133100
HP:0001438	Abnormal abdomen morphology	1186	CLCN7	OMIM:618541
HP:0001438	Abnormal abdomen morphology	1186	CLCN7	ORPHA:667
HP:0001438	Abnormal abdomen morphology	1186	CLCN7	OMIM:611490
HP:0001438	Abnormal abdomen morphology	10661	KLF1	ORPHA:46532
HP:0001438	Abnormal abdomen morphology	10661	KLF1	ORPHA:251380
HP:0001438	Abnormal abdomen morphology	10661	KLF1	OMIM:613673
HP:0001438	Abnormal abdomen morphology	3047	HBG1	ORPHA:46532
HP:0001438	Abnormal abdomen morphology	3047	HBG1	ORPHA:251380
HP:0001438	Abnormal abdomen morphology	3048	HBG2	ORPHA:46532
HP:0001438	Abnormal abdomen morphology	3048	HBG2	ORPHA:251380
HP:0001438	Abnormal abdomen morphology	595	CCND1	ORPHA:29073
HP:0001438	Abnormal abdomen morphology	595	CCND1	ORPHA:52416
HP:0001438	Abnormal abdomen morphology	1594	CYP27B1	ORPHA:289157
HP:0001438	Abnormal abdomen morphology	120227	CYP2R1	ORPHA:289157
HP:0001438	Abnormal abdomen morphology	27125	AFF4	OMIM:616368
HP:0001438	Abnormal abdomen morphology	5295	PIK3R1	OMIM:616005
HP:0001438	Abnormal abdomen morphology	5295	PIK3R1	ORPHA:397596
HP:0001438	Abnormal abdomen morphology	286	ANK1	ORPHA:251066
HP:0001438	Abnormal abdomen morphology	286	ANK1	OMIM:182900
HP:0001438	Abnormal abdomen morphology	286	ANK1	ORPHA:822
HP:0001438	Abnormal abdomen morphology	285362	SUMF1	OMIM:272200
HP:0001438	Abnormal abdomen morphology	285362	SUMF1	ORPHA:585
HP:0001438	Abnormal abdomen morphology	5896	RAG1	OMIM:603554
HP:0001438	Abnormal abdomen morphology	5896	RAG1	ORPHA:39041
HP:0001438	Abnormal abdomen morphology	5896	RAG1	ORPHA:231154
HP:0001438	Abnormal abdomen morphology	5897	RAG2	OMIM:603554
HP:0001438	Abnormal abdomen morphology	5897	RAG2	ORPHA:39041
HP:0001438	Abnormal abdomen morphology	64421	DCLRE1C	OMIM:603554
HP:0001438	Abnormal abdomen morphology	64421	DCLRE1C	OMIM:602450
HP:0001438	Abnormal abdomen morphology	64421	DCLRE1C	ORPHA:39041
HP:0001438	Abnormal abdomen morphology	5551	PRF1	OMIM:603553
HP:0001438	Abnormal abdomen morphology	5551	PRF1	ORPHA:540
HP:0001438	Abnormal abdomen morphology	8676	STX11	OMIM:603552
HP:0001438	Abnormal abdomen morphology	8676	STX11	ORPHA:540
HP:0001438	Abnormal abdomen morphology	11311	VPS45	OMIM:615285
HP:0001438	Abnormal abdomen morphology	2542	SLC37A4	OMIM:619525
HP:0001438	Abnormal abdomen morphology	2542	SLC37A4	OMIM:232220
HP:0001438	Abnormal abdomen morphology	55072	RNF31	OMIM:620632
HP:0001438	Abnormal abdomen morphology	2683	B4GALT1	ORPHA:79332
HP:0001438	Abnormal abdomen morphology	57104	PNPLA2	OMIM:610717
HP:0001438	Abnormal abdomen morphology	57104	PNPLA2	ORPHA:565612
HP:0001438	Abnormal abdomen morphology	9968	MED12	OMIM:301068
HP:0001438	Abnormal abdomen morphology	4000	LMNA	ORPHA:280365
HP:0001438	Abnormal abdomen morphology	4000	LMNA	ORPHA:2348
HP:0001438	Abnormal abdomen morphology	4000	LMNA	OMIM:151660
HP:0001438	Abnormal abdomen morphology	2239	GPC4	ORPHA:373
HP:0001438	Abnormal abdomen morphology	2239	GPC4	OMIM:312870
HP:0001438	Abnormal abdomen morphology	5692	PSMB4	OMIM:617591
HP:0001438	Abnormal abdomen morphology	5286	PIK3C2A	OMIM:618440
HP:0001438	Abnormal abdomen morphology	8565	YARS1	OMIM:619418
HP:0001438	Abnormal abdomen morphology	654	BMP6	ORPHA:465508
HP:0001438	Abnormal abdomen morphology	54532	USP53	OMIM:619658
HP:0001438	Abnormal abdomen morphology	64127	NOD2	ORPHA:90340
HP:0001438	Abnormal abdomen morphology	51311	TLR8	OMIM:301078
HP:0001438	Abnormal abdomen morphology	4615	MYD88	ORPHA:33226
HP:0001438	Abnormal abdomen morphology	54903	MKS1	OMIM:249000
HP:0001438	Abnormal abdomen morphology	5825	ABCD3	OMIM:616278
HP:0001438	Abnormal abdomen morphology	5256	PHKA2	ORPHA:264580
HP:0001438	Abnormal abdomen morphology	5256	PHKA2	OMIM:306000
HP:0001438	Abnormal abdomen morphology	5261	PHKG2	ORPHA:264580
HP:0001438	Abnormal abdomen morphology	5261	PHKG2	OMIM:613027
HP:0001438	Abnormal abdomen morphology	344	APOC2	OMIM:207750
HP:0001438	Abnormal abdomen morphology	846	CASR	OMIM:239200
HP:0001438	Abnormal abdomen morphology	846	CASR	ORPHA:417
HP:0001438	Abnormal abdomen morphology	4594	MMUT	ORPHA:79312
HP:0001438	Abnormal abdomen morphology	149233	IL23R	ORPHA:117
HP:0001438	Abnormal abdomen morphology	3586	IL10	ORPHA:117
HP:0001438	Abnormal abdomen morphology	1230	CCR1	ORPHA:117
HP:0001438	Abnormal abdomen morphology	355	FAS	ORPHA:117
HP:0001438	Abnormal abdomen morphology	355	FAS	ORPHA:3261
HP:0001438	Abnormal abdomen morphology	355	FAS	OMIM:601859
HP:0001438	Abnormal abdomen morphology	101928376	IL12A-AS1	ORPHA:117
HP:0001438	Abnormal abdomen morphology	3106	HLA-B	ORPHA:117
HP:0001438	Abnormal abdomen morphology	7099	TLR4	ORPHA:117
HP:0001438	Abnormal abdomen morphology	3459	IFNGR1	ORPHA:117
HP:0001438	Abnormal abdomen morphology	3459	IFNGR1	OMIM:209950
HP:0001438	Abnormal abdomen morphology	720	C4A	ORPHA:117
HP:0001438	Abnormal abdomen morphology	337867	UBAC2	ORPHA:117
HP:0001438	Abnormal abdomen morphology	51752	ERAP1	ORPHA:117
HP:0001438	Abnormal abdomen morphology	8302	KLRC4	ORPHA:117
HP:0001438	Abnormal abdomen morphology	65992	DDRGK1	OMIM:602557
HP:0001438	Abnormal abdomen morphology	6448	SGSH	OMIM:252900
HP:0001438	Abnormal abdomen morphology	4598	MVK	ORPHA:29
HP:0001438	Abnormal abdomen morphology	4598	MVK	OMIM:260920
HP:0001438	Abnormal abdomen morphology	331	XIAP	OMIM:300635
HP:0001438	Abnormal abdomen morphology	331	XIAP	OMIM:308240
HP:0001438	Abnormal abdomen morphology	331	XIAP	ORPHA:538934
HP:0001438	Abnormal abdomen morphology	3659	IRF1	OMIM:620668
HP:0001438	Abnormal abdomen morphology	22806	IKZF3	OMIM:619437
HP:0001438	Abnormal abdomen morphology	9842	PLEKHM1	OMIM:618107
HP:0001438	Abnormal abdomen morphology	6916	TBXAS1	ORPHA:1802
HP:0001438	Abnormal abdomen morphology	4023	LPL	OMIM:238600
HP:0001438	Abnormal abdomen morphology	959	CD40LG	OMIM:308230
HP:0001438	Abnormal abdomen morphology	23451	SF3B1	ORPHA:75564
HP:0001438	Abnormal abdomen morphology	53335	BCL11A	ORPHA:251380
HP:0001438	Abnormal abdomen morphology	10312	TCIRG1	ORPHA:667
HP:0001438	Abnormal abdomen morphology	10312	TCIRG1	OMIM:259700
HP:0001438	Abnormal abdomen morphology	29887	SNX10	ORPHA:667
HP:0001438	Abnormal abdomen morphology	29887	SNX10	OMIM:615085
HP:0001438	Abnormal abdomen morphology	8600	TNFSF11	ORPHA:667
HP:0001438	Abnormal abdomen morphology	201294	UNC13D	ORPHA:540
HP:0001438	Abnormal abdomen morphology	6813	STXBP2	ORPHA:540
HP:0001438	Abnormal abdomen morphology	6813	STXBP2	OMIM:613101
HP:0001438	Abnormal abdomen morphology	5009	OTC	ORPHA:664
HP:0001438	Abnormal abdomen morphology	55315	SLC29A3	OMIM:602782
HP:0001438	Abnormal abdomen morphology	7372	UMPS	ORPHA:30
HP:0001438	Abnormal abdomen morphology	58484	NLRC4	OMIM:616050
HP:0001438	Abnormal abdomen morphology	11277	TREX1	OMIM:225750
HP:0001438	Abnormal abdomen morphology	22861	NLRP1	OMIM:617388
HP:0001438	Abnormal abdomen morphology	5660	PSAP	OMIM:611721
HP:0001438	Abnormal abdomen morphology	5660	PSAP	OMIM:610539
HP:0001438	Abnormal abdomen morphology	5660	PSAP	ORPHA:139406
HP:0001438	Abnormal abdomen morphology	55503	TRPV6	ORPHA:417
HP:0001438	Abnormal abdomen morphology	81858	SHARPIN	OMIM:620795
HP:0001438	Abnormal abdomen morphology	5698	PSMB9	OMIM:620796
HP:0001438	Abnormal abdomen morphology	7132	TNFRSF1A	ORPHA:32960
HP:0001438	Abnormal abdomen morphology	4068	SH2D1A	OMIM:308240
HP:0001438	Abnormal abdomen morphology	23218	NBEAL2	OMIM:139090
HP:0001438	Abnormal abdomen morphology	23218	NBEAL2	ORPHA:721
HP:0001438	Abnormal abdomen morphology	114548	NLRP3	ORPHA:575
HP:0001438	Abnormal abdomen morphology	114548	NLRP3	ORPHA:1451
HP:0001438	Abnormal abdomen morphology	84061	MAGT1	OMIM:300853
HP:0001438	Abnormal abdomen morphology	537	ATP6AP1	OMIM:300972
HP:0001438	Abnormal abdomen morphology	4125	MAN2B1	OMIM:248500
HP:0001438	Abnormal abdomen morphology	3756	KCNH1	OMIM:135500
HP:0001438	Abnormal abdomen morphology	3756	KCNH1	ORPHA:3473
HP:0001438	Abnormal abdomen morphology	3394	IRF8	OMIM:226990
HP:0001438	Abnormal abdomen morphology	3643	INSR	OMIM:246200
HP:0001438	Abnormal abdomen morphology	6718	AKR1D1	OMIM:235555
HP:0001438	Abnormal abdomen morphology	10092	ARPC5	OMIM:620565
HP:0001438	Abnormal abdomen morphology	1312	COMT	ORPHA:567
HP:0001438	Abnormal abdomen morphology	221037	JMJD1C	ORPHA:567
HP:0001438	Abnormal abdomen morphology	2812	GP1BB	ORPHA:567
HP:0001438	Abnormal abdomen morphology	6239	RREB1	ORPHA:567
HP:0001438	Abnormal abdomen morphology	6899	TBX1	ORPHA:567
HP:0001438	Abnormal abdomen morphology	6899	TBX1	OMIM:188400
HP:0001438	Abnormal abdomen morphology	7290	HIRA	ORPHA:567
HP:0001438	Abnormal abdomen morphology	9632	SEC24C	ORPHA:567
HP:0001438	Abnormal abdomen morphology	7353	UFD1	ORPHA:567
HP:0001438	Abnormal abdomen morphology	421	ARVCF	ORPHA:567
HP:0001438	Abnormal abdomen morphology	7389	UROD	ORPHA:95159
HP:0001438	Abnormal abdomen morphology	212	ALAS2	ORPHA:75563
HP:0001438	Abnormal abdomen morphology	55630	SLC39A4	OMIM:201100
HP:0001438	Abnormal abdomen morphology	546	ATRX	ORPHA:231401
HP:0001438	Abnormal abdomen morphology	3560	IL2RB	OMIM:618495
HP:0001438	Abnormal abdomen morphology	8883	NAE1	OMIM:620210
HP:0001438	Abnormal abdomen morphology	84701	COX4I2	OMIM:612714
HP:0001438	Abnormal abdomen morphology	8943	AP3D1	OMIM:617050
HP:0001438	Abnormal abdomen morphology	57003	CCDC47	OMIM:618268
HP:0001438	Abnormal abdomen morphology	51095	TRNT1	OMIM:616084
HP:0001438	Abnormal abdomen morphology	83706	FERMT3	OMIM:612840
HP:0001438	Abnormal abdomen morphology	9420	CYP7B1	OMIM:613812
HP:0001438	Abnormal abdomen morphology	6023	RMRP	ORPHA:39041
HP:0001438	Abnormal abdomen morphology	55636	CHD7	ORPHA:39041
HP:0001438	Abnormal abdomen morphology	3981	LIG4	ORPHA:39041
HP:0001438	Abnormal abdomen morphology	100	ADA	ORPHA:39041
HP:0001438	Abnormal abdomen morphology	100	ADA	OMIM:102700
HP:0001438	Abnormal abdomen morphology	3575	IL7R	ORPHA:39041
HP:0001438	Abnormal abdomen morphology	3575	IL7R	OMIM:608971
HP:0001438	Abnormal abdomen morphology	3561	IL2RG	ORPHA:39041
HP:0001438	Abnormal abdomen morphology	207	AKT1	ORPHA:744
HP:0001438	Abnormal abdomen morphology	207	AKT1	OMIM:176920
HP:0001438	Abnormal abdomen morphology	84868	HAVCR2	OMIM:618398
HP:0001438	Abnormal abdomen morphology	7504	XK	OMIM:300842
HP:0001438	Abnormal abdomen morphology	10483	SEC23B	OMIM:224100
HP:0001438	Abnormal abdomen morphology	60468	BACH2	OMIM:618394
HP:0001438	Abnormal abdomen morphology	226	ALDOA	OMIM:611881
HP:0001438	Abnormal abdomen morphology	3557	IL1RN	OMIM:612852
HP:0001438	Abnormal abdomen morphology	91662	NLRP12	OMIM:611762
HP:0001438	Abnormal abdomen morphology	2799	GNS	OMIM:252940
HP:0001438	Abnormal abdomen morphology	5264	PHYH	ORPHA:773
HP:0001438	Abnormal abdomen morphology	5191	PEX7	ORPHA:773
HP:0001438	Abnormal abdomen morphology	940	CD28	ORPHA:3162
HP:0001438	Abnormal abdomen morphology	940	CD28	ORPHA:2584
HP:0001438	Abnormal abdomen morphology	7133	TNFRSF1B	ORPHA:3162
HP:0001438	Abnormal abdomen morphology	7133	TNFRSF1B	ORPHA:2584
HP:0001438	Abnormal abdomen morphology	7390	UROS	OMIM:263700
HP:0001438	Abnormal abdomen morphology	7390	UROS	ORPHA:79277
HP:0001438	Abnormal abdomen morphology	4938	OAS1	OMIM:618042
HP:0001438	Abnormal abdomen morphology	8651	SOCS1	OMIM:619375
HP:0001438	Abnormal abdomen morphology	2624	GATA2	ORPHA:228423
HP:0001438	Abnormal abdomen morphology	138050	HGSNAT	OMIM:252930
HP:0001438	Abnormal abdomen morphology	25913	POT1	OMIM:620367
HP:0001438	Abnormal abdomen morphology	5313	PKLR	ORPHA:766
HP:0001438	Abnormal abdomen morphology	5313	PKLR	OMIM:266200
HP:0001438	Abnormal abdomen morphology	6850	SYK	OMIM:619381
HP:0001438	Abnormal abdomen morphology	613	BCR	ORPHA:521
HP:0001438	Abnormal abdomen morphology	25	ABL1	ORPHA:521
HP:0001438	Abnormal abdomen morphology	51626	DYNC2LI1	OMIM:617088
HP:0001438	Abnormal abdomen morphology	5257	PHKB	OMIM:261750
HP:0001438	Abnormal abdomen morphology	5257	PHKB	ORPHA:79240
HP:0001438	Abnormal abdomen morphology	146059	CDAN1	OMIM:224120
HP:0001438	Abnormal abdomen morphology	9652	SKIC3	ORPHA:84064
HP:0001438	Abnormal abdomen morphology	9652	SKIC3	OMIM:222470
HP:0001438	Abnormal abdomen morphology	6499	SKIC2	ORPHA:84064
HP:0001438	Abnormal abdomen morphology	10535	RNASEH2A	OMIM:610333
HP:0001438	Abnormal abdomen morphology	5696	PSMB8	OMIM:256040
HP:0001438	Abnormal abdomen morphology	4669	NAGLU	OMIM:252920
HP:0001438	Abnormal abdomen morphology	4067	LYN	OMIM:620376
HP:0001438	Abnormal abdomen morphology	26276	VPS33B	OMIM:620010
HP:0001438	Abnormal abdomen morphology	8085	KMT2D	OMIM:147920
HP:0001438	Abnormal abdomen morphology	7403	KDM6A	OMIM:147920
HP:0001438	Abnormal abdomen morphology	4352	MPL	ORPHA:71493
HP:0001438	Abnormal abdomen morphology	4352	MPL	ORPHA:824
HP:0001438	Abnormal abdomen morphology	4352	MPL	ORPHA:3318
HP:0001438	Abnormal abdomen morphology	4352	MPL	OMIM:254450
HP:0001438	Abnormal abdomen morphology	7066	THPO	ORPHA:71493
HP:0001438	Abnormal abdomen morphology	7066	THPO	OMIM:187950
HP:0001438	Abnormal abdomen morphology	356	FASLG	ORPHA:3261
HP:0001438	Abnormal abdomen morphology	356	FASLG	OMIM:601859
HP:0001438	Abnormal abdomen morphology	843	CASP10	ORPHA:3261
HP:0001438	Abnormal abdomen morphology	843	CASP10	OMIM:603909
HP:0001438	Abnormal abdomen morphology	2811	GP1BA	OMIM:153670
HP:0001438	Abnormal abdomen morphology	144811	LACC1	ORPHA:85414
HP:0001438	Abnormal abdomen morphology	4282	MIF	ORPHA:85414
HP:0001438	Abnormal abdomen morphology	3569	IL6	ORPHA:85414
HP:0001438	Abnormal abdomen morphology	6521	SLC4A1	OMIM:185020
HP:0001438	Abnormal abdomen morphology	6521	SLC4A1	ORPHA:822
HP:0001438	Abnormal abdomen morphology	6521	SLC4A1	OMIM:612653
HP:0001438	Abnormal abdomen morphology	6521	SLC4A1	ORPHA:3202
HP:0001438	Abnormal abdomen morphology	55532	SLC30A10	ORPHA:309854
HP:0001438	Abnormal abdomen morphology	3815	KIT	ORPHA:98849
HP:0001438	Abnormal abdomen morphology	987	LRBA	OMIM:614700
HP:0001438	Abnormal abdomen morphology	857	CAV1	OMIM:612526
HP:0001438	Abnormal abdomen morphology	7174	TPP2	ORPHA:444463
HP:0001438	Abnormal abdomen morphology	2038	EPB42	ORPHA:822
HP:0001438	Abnormal abdomen morphology	2038	EPB42	OMIM:612690
HP:0001438	Abnormal abdomen morphology	23149	FCHO1	OMIM:619164
HP:0001438	Abnormal abdomen morphology	1352	COX10	OMIM:619046
HP:0001438	Abnormal abdomen morphology	841	CASP8	OMIM:607271
HP:0001438	Abnormal abdomen morphology	7535	ZAP70	OMIM:269840
HP:0001438	Abnormal abdomen morphology	3604	TNFRSF9	OMIM:620282
HP:0001438	Abnormal abdomen morphology	2533	FYB1	OMIM:273900
HP:0001438	Abnormal abdomen morphology	6005	RHAG	OMIM:185000
HP:0001438	Abnormal abdomen morphology	6005	RHAG	ORPHA:3203
HP:0001438	Abnormal abdomen morphology	5699	PSMB10	OMIM:619175
HP:0001438	Abnormal abdomen morphology	348	APOE	OMIM:269600
HP:0001438	Abnormal abdomen morphology	348	APOE	ORPHA:158029
HP:0001438	Abnormal abdomen morphology	92579	G6PC3	OMIM:612541
HP:0001438	Abnormal abdomen morphology	6786	STIM1	OMIM:612783
HP:0001438	Abnormal abdomen morphology	5468	PPARG	ORPHA:79083
HP:0001438	Abnormal abdomen morphology	686	BTD	OMIM:253260
HP:0001438	Abnormal abdomen morphology	8792	TNFRSF11A	OMIM:612301
HP:0001438	Abnormal abdomen morphology	8546	AP3B1	OMIM:608233
HP:0001438	Abnormal abdomen morphology	10555	AGPAT2	OMIM:608594
HP:0001438	Abnormal abdomen morphology	56984	PSMG2	OMIM:619183
HP:0001438	Abnormal abdomen morphology	1717	DHCR7	OMIM:270400
HP:0001438	Abnormal abdomen morphology	23230	VPS13A	ORPHA:2388
HP:0001438	Abnormal abdomen morphology	526	ATP6V1B2	ORPHA:3473
HP:0001438	Abnormal abdomen morphology	3782	KCNN3	ORPHA:3473
HP:0001438	Abnormal abdomen morphology	3425	IDUA	OMIM:607014
HP:0001438	Abnormal abdomen morphology	3425	IDUA	OMIM:607015
HP:0001438	Abnormal abdomen morphology	3425	IDUA	ORPHA:93474
HP:0001438	Abnormal abdomen morphology	3425	IDUA	ORPHA:93473
HP:0001438	Abnormal abdomen morphology	3425	IDUA	ORPHA:93476
HP:0001438	Abnormal abdomen morphology	175	AGA	ORPHA:93
HP:0001438	Abnormal abdomen morphology	4853	NOTCH2	ORPHA:955
HP:0001438	Abnormal abdomen morphology	338328	GPIHBP1	OMIM:615947
HP:0001438	Abnormal abdomen morphology	80216	ALPK1	OMIM:614979
HP:0001438	Abnormal abdomen morphology	3055	HCK	OMIM:620296
HP:0001438	Abnormal abdomen morphology	2243	FGA	OMIM:105200
HP:0001438	Abnormal abdomen morphology	7840	ALMS1	ORPHA:64
HP:0001438	Abnormal abdomen morphology	472	ATM	ORPHA:52416
HP:0001438	Abnormal abdomen morphology	5828	PEX2	OMIM:614866
HP:0001438	Abnormal abdomen morphology	5293	PIK3CD	ORPHA:397596
HP:0001438	Abnormal abdomen morphology	5293	PIK3CD	OMIM:615513
HP:0001438	Abnormal abdomen morphology	6288	SAA1	ORPHA:85445
HP:0001438	Abnormal abdomen morphology	64135	IFIH1	OMIM:615846
HP:0001438	Abnormal abdomen morphology	3662	IRF4	ORPHA:3452
HP:0001438	Abnormal abdomen morphology	8813	DPM1	OMIM:608799
HP:0001438	Abnormal abdomen morphology	50943	FOXP3	ORPHA:37042
HP:0001438	Abnormal abdomen morphology	50628	GEMIN4	OMIM:617913
HP:0001438	Abnormal abdomen morphology	57817	HAMP	OMIM:613313
HP:0001438	Abnormal abdomen morphology	84317	CCDC115	OMIM:616828
HP:0001438	Abnormal abdomen morphology	64241	ABCG8	OMIM:210250
HP:0001438	Abnormal abdomen morphology	64241	ABCG8	ORPHA:2882
HP:0001438	Abnormal abdomen morphology	93183	PIGM	OMIM:610293
HP:0001438	Abnormal abdomen morphology	7157	TP53	ORPHA:3318
HP:0001438	Abnormal abdomen morphology	284119	CAVIN1	OMIM:613327
HP:0001438	Abnormal abdomen morphology	57410	SCYL1	OMIM:616719
HP:0001438	Abnormal abdomen morphology	219285	SAMD9L	ORPHA:2585
HP:0001438	Abnormal abdomen morphology	6888	TALDO1	OMIM:606003
HP:0001438	Abnormal abdomen morphology	56052	ALG1	OMIM:608540
HP:0001438	Abnormal abdomen morphology	91949	COG7	OMIM:608779
HP:0001438	Abnormal abdomen morphology	7167	TPI1	OMIM:615512
HP:0001438	Abnormal abdomen morphology	26160	IFT172	OMIM:615630
HP:0001438	Abnormal abdomen morphology	84529	CDIN1	OMIM:615631
HP:0001438	Abnormal abdomen morphology	79848	CSPP1	OMIM:615636
HP:0001438	Abnormal abdomen morphology	6513	SLC2A1	OMIM:612126
HP:0001438	Abnormal abdomen morphology	6513	SLC2A1	OMIM:608885
HP:0001438	Abnormal abdomen morphology	11133	KPTN	OMIM:615637
HP:0001438	Abnormal abdomen morphology	5156	PDGFRA	OMIM:607685
HP:0001438	Abnormal abdomen morphology	4173	MCM4	OMIM:609981
HP:0001438	Abnormal abdomen morphology	79650	USB1	OMIM:604173
HP:0001438	Abnormal abdomen morphology	79650	USB1	ORPHA:1775
HP:0001438	Abnormal abdomen morphology	411	ARSB	OMIM:253200
HP:0001438	Abnormal abdomen morphology	669	BPGM	OMIM:222800
HP:0001438	Abnormal abdomen morphology	9948	WDR1	OMIM:150550
HP:0001438	Abnormal abdomen morphology	4792	NFKBIA	OMIM:612132
HP:0001438	Abnormal abdomen morphology	169792	GLIS3	OMIM:610199
HP:0001438	Abnormal abdomen morphology	9076	CLDN1	ORPHA:59303
HP:0001438	Abnormal abdomen morphology	9076	CLDN1	OMIM:607626
HP:0001438	Abnormal abdomen morphology	9663	LPIN2	ORPHA:77297
HP:0001438	Abnormal abdomen morphology	51218	GLRX5	OMIM:616860
HP:0001438	Abnormal abdomen morphology	2821	GPI	OMIM:613470
HP:0001438	Abnormal abdomen morphology	6097	RORC	OMIM:616622
HP:0001438	Abnormal abdomen morphology	10616	RBCK1	OMIM:615895
HP:0001438	Abnormal abdomen morphology	56244	BTNL2	OMIM:612387
HP:0001438	Abnormal abdomen morphology	6663	SOX10	ORPHA:163746
HP:0001438	Abnormal abdomen morphology	3248	HPGD	ORPHA:2796
HP:0001438	Abnormal abdomen morphology	6578	SLCO2A1	ORPHA:2796
HP:0001438	Abnormal abdomen morphology	9056	SLC7A7	OMIM:222700
HP:0001438	Abnormal abdomen morphology	57511	COG6	OMIM:614576
HP:0001438	Abnormal abdomen morphology	56623	INPP5E	ORPHA:1454
HP:0001438	Abnormal abdomen morphology	23322	RPGRIP1L	ORPHA:1454
HP:0001438	Abnormal abdomen morphology	57545	CC2D2A	ORPHA:1454
HP:0001438	Abnormal abdomen morphology	25839	COG4	OMIM:613489
HP:0001438	Abnormal abdomen morphology	4790	NFKB1	ORPHA:1572
HP:0001438	Abnormal abdomen morphology	4791	NFKB2	ORPHA:1572
HP:0001438	Abnormal abdomen morphology	8742	TNFSF12	ORPHA:1572
HP:0001438	Abnormal abdomen morphology	931	MS4A1	ORPHA:1572
HP:0001438	Abnormal abdomen morphology	975	CD81	ORPHA:1572
HP:0001438	Abnormal abdomen morphology	359948	IRF2BP2	ORPHA:1572
HP:0001438	Abnormal abdomen morphology	5873	RAB27A	ORPHA:79477
HP:0001438	Abnormal abdomen morphology	2328	FMO3	OMIM:602079
HP:0001438	Abnormal abdomen morphology	5265	SERPINA1	OMIM:613490
HP:0001438	Abnormal abdomen morphology	10367	MICU1	OMIM:615673
HP:0001438	Abnormal abdomen morphology	26580	BSCL2	OMIM:269700
HP:0001438	Abnormal abdomen morphology	3702	ITK	OMIM:613011
HP:0001438	Abnormal abdomen morphology	2517	FUCA1	OMIM:230000
HP:0001438	Abnormal abdomen morphology	2548	GAA	OMIM:232300
HP:0001438	Abnormal abdomen morphology	5580	PRKCD	OMIM:615559
HP:0001438	Abnormal abdomen morphology	2065	ERBB3	OMIM:133180
HP:0001438	Abnormal abdomen morphology	7040	TGFB1	ORPHA:1328
HP:0001438	Abnormal abdomen morphology	1718	DHCR24	ORPHA:35107
HP:0001438	Abnormal abdomen morphology	3845	KRAS	OMIM:614470
HP:0001438	Abnormal abdomen morphology	27031	NPHP3	OMIM:208540
HP:0001438	Abnormal abdomen morphology	100151683	RNU4ATAC	OMIM:616651
HP:0001438	Abnormal abdomen morphology	83737	ITCH	OMIM:613385
HP:0001438	Abnormal abdomen morphology	51816	ADA2	OMIM:615688
HP:0001438	Abnormal abdomen morphology	3098	HK1	OMIM:235700
HP:0001438	Abnormal abdomen morphology	3931	LCAT	ORPHA:79292
HP:0001438	Abnormal abdomen morphology	100506658	OCLN	OMIM:251290
HP:0001438	Abnormal abdomen morphology	5294	PIK3CG	OMIM:619802
HP:0001438	Abnormal abdomen morphology	64240	ABCG5	ORPHA:2882
HP:0001438	Abnormal abdomen morphology	2819	GPD1	OMIM:614480
HP:0001438	Abnormal abdomen morphology	139818	DOCK11	OMIM:301109
HP:0001438	Abnormal abdomen morphology	10020	GNE	OMIM:269921
HP:0001438	Abnormal abdomen morphology	27040	LAT	OMIM:617514
HP:0001438	Abnormal abdomen morphology	4724	NDUFS4	OMIM:252010
HP:0001438	Abnormal abdomen morphology	3458	IFNG	OMIM:618963
HP:0001438	Abnormal abdomen morphology	81570	CLPB	OMIM:619813
HP:0001438	Abnormal abdomen morphology	139886	SPIN4	OMIM:301114
HP:0001438	Abnormal abdomen morphology	8737	RIPK1	OMIM:618852
HP:0001438	Abnormal abdomen morphology	28985	MCTS1	OMIM:301115
HP:0001438	Abnormal abdomen morphology	10464	PIBF1	OMIM:617767
HP:0001438	Abnormal abdomen morphology	80169	CTC1	ORPHA:1775
HP:0001438	Abnormal abdomen morphology	26277	TINF2	ORPHA:1775
HP:0001438	Abnormal abdomen morphology	55651	NHP2	ORPHA:1775
HP:0001438	Abnormal abdomen morphology	55135	WRAP53	ORPHA:1775
HP:0001438	Abnormal abdomen morphology	51750	RTEL1	ORPHA:1775
HP:0001438	Abnormal abdomen morphology	4869	NPM1	ORPHA:1775
HP:0001438	Abnormal abdomen morphology	7012	TERC	ORPHA:1775
HP:0001438	Abnormal abdomen morphology	55505	NOP10	ORPHA:1775
HP:0001438	Abnormal abdomen morphology	5073	PARN	ORPHA:1775
HP:0001438	Abnormal abdomen morphology	7015	TERT	ORPHA:1775
HP:0001438	Abnormal abdomen morphology	1736	DKC1	ORPHA:1775
HP:0001438	Abnormal abdomen morphology	7298	TYMS	ORPHA:1775
HP:0001438	Abnormal abdomen morphology	3636	INPPL1	ORPHA:2746
HP:0001438	Abnormal abdomen morphology	6929	TCF3	OMIM:619824
HP:0001438	Abnormal abdomen morphology	2582	GALE	OMIM:230350
HP:0001438	Abnormal abdomen morphology	2783	GNB2	OMIM:619503
HP:0001438	Abnormal abdomen morphology	10577	NPC2	OMIM:607625
HP:0001438	Abnormal abdomen morphology	3295	HSD17B4	OMIM:261515
HP:0001438	Abnormal abdomen morphology	29969	MDFIC	OMIM:620014
HP:0001438	Abnormal abdomen morphology	4864	NPC1	OMIM:257220
HP:0001438	Abnormal abdomen morphology	5745	PTH1R	OMIM:215045
HP:0001438	Abnormal abdomen morphology	6007	RHD	OMIM:619462
HP:0001438	Abnormal abdomen morphology	1984	EIF5A	OMIM:619376
HP:0001438	Abnormal abdomen morphology	1374	CPT1A	ORPHA:156
HP:0001438	Abnormal abdomen morphology	1374	CPT1A	OMIM:255120
HP:0001438	Abnormal abdomen morphology	2137	EXTL3	ORPHA:508533
HP:0001438	Abnormal abdomen morphology	6584	SLC22A5	ORPHA:158
HP:0001438	Abnormal abdomen morphology	6584	SLC22A5	OMIM:212140
HP:0001438	Abnormal abdomen morphology	875	CBS	ORPHA:394
HP:0001438	Abnormal abdomen morphology	54539	NDUFB11	ORPHA:2609
HP:0001438	Abnormal abdomen morphology	25915	NDUFAF3	ORPHA:2609
HP:0001438	Abnormal abdomen morphology	51103	NDUFAF1	ORPHA:2609
HP:0001438	Abnormal abdomen morphology	51103	NDUFAF1	OMIM:618234
HP:0001438	Abnormal abdomen morphology	91942	NDUFAF2	ORPHA:2609
HP:0001438	Abnormal abdomen morphology	51300	TIMMDC1	ORPHA:2609
HP:0001438	Abnormal abdomen morphology	4716	NDUFB10	ORPHA:2609
HP:0001438	Abnormal abdomen morphology	4723	NDUFV1	ORPHA:2609
HP:0001438	Abnormal abdomen morphology	55572	FOXRED1	ORPHA:2609
HP:0001438	Abnormal abdomen morphology	284184	NDUFAF8	ORPHA:2609
HP:0001438	Abnormal abdomen morphology	55863	TMEM126B	ORPHA:2609
HP:0001438	Abnormal abdomen morphology	4535	MT-ND1	ORPHA:2609
HP:0001438	Abnormal abdomen morphology	4535	MT-ND1	ORPHA:255210
HP:0001438	Abnormal abdomen morphology	4537	MT-ND3	ORPHA:2609
HP:0001438	Abnormal abdomen morphology	4537	MT-ND3	ORPHA:255210
HP:0001438	Abnormal abdomen morphology	4729	NDUFV2	ORPHA:2609
HP:0001438	Abnormal abdomen morphology	4694	NDUFA1	ORPHA:2609
HP:0001438	Abnormal abdomen morphology	4720	NDUFS2	ORPHA:2609
HP:0001438	Abnormal abdomen morphology	4726	NDUFS6	ORPHA:2609
HP:0001438	Abnormal abdomen morphology	4728	NDUFS8	ORPHA:2609
HP:0001438	Abnormal abdomen morphology	4722	NDUFS3	ORPHA:2609
HP:0001438	Abnormal abdomen morphology	79133	NDUFAF5	ORPHA:2609
HP:0001438	Abnormal abdomen morphology	126328	NDUFA11	ORPHA:2609
HP:0001438	Abnormal abdomen morphology	4709	NDUFB3	ORPHA:2609
HP:0001438	Abnormal abdomen morphology	80224	NUBPL	ORPHA:2609
HP:0001438	Abnormal abdomen morphology	29078	NDUFAF4	ORPHA:2609
HP:0001438	Abnormal abdomen morphology	374291	NDUFS7	ORPHA:2609
HP:0001438	Abnormal abdomen morphology	374291	NDUFS7	OMIM:618224
HP:0001438	Abnormal abdomen morphology	4700	NDUFA6	ORPHA:2609
HP:0001438	Abnormal abdomen morphology	4536	MT-ND2	ORPHA:2609
HP:0001438	Abnormal abdomen morphology	4536	MT-ND2	ORPHA:255210
HP:0001438	Abnormal abdomen morphology	4719	NDUFS1	ORPHA:2609
HP:0001438	Abnormal abdomen morphology	4719	NDUFS1	OMIM:618226
HP:0001438	Abnormal abdomen morphology	4715	NDUFB9	ORPHA:2609
HP:0001438	Abnormal abdomen morphology	26235	FBXL4	OMIM:615471
HP:0001438	Abnormal abdomen morphology	229	ALDOB	OMIM:229600
HP:0001438	Abnormal abdomen morphology	229	ALDOB	ORPHA:469
HP:0001438	Abnormal abdomen morphology	57128	LYRM4	OMIM:615595
HP:0001438	Abnormal abdomen morphology	60684	TRAPPC11	OMIM:615356
HP:0001438	Abnormal abdomen morphology	60684	TRAPPC11	ORPHA:369840
HP:0001438	Abnormal abdomen morphology	63924	CIDEC	OMIM:615238
HP:0001438	Abnormal abdomen morphology	63924	CIDEC	ORPHA:435651
HP:0001438	Abnormal abdomen morphology	84334	COA8	ORPHA:436271
HP:0001438	Abnormal abdomen morphology	5830	PEX5	OMIM:214110
HP:0001438	Abnormal abdomen morphology	5830	PEX5	ORPHA:772
HP:0001438	Abnormal abdomen morphology	5830	PEX5	ORPHA:912
HP:0001438	Abnormal abdomen morphology	51	ACOX1	ORPHA:2971
HP:0001438	Abnormal abdomen morphology	51	ACOX1	OMIM:264470
HP:0001438	Abnormal abdomen morphology	51099	ABHD5	OMIM:275630
HP:0001438	Abnormal abdomen morphology	51099	ABHD5	ORPHA:98907
HP:0001438	Abnormal abdomen morphology	2067	ERCC1	ORPHA:90322
HP:0001438	Abnormal abdomen morphology	4538	MT-ND4	ORPHA:255210
HP:0001438	Abnormal abdomen morphology	4567	MT-TL1	ORPHA:255210
HP:0001438	Abnormal abdomen morphology	4578	MT-TW	ORPHA:255210
HP:0001438	Abnormal abdomen morphology	4577	MT-TV	ORPHA:255210
HP:0001438	Abnormal abdomen morphology	4508	MT-ATP6	ORPHA:255210
HP:0001438	Abnormal abdomen morphology	4508	MT-ATP6	ORPHA:254913
HP:0001438	Abnormal abdomen morphology	4540	MT-ND5	ORPHA:255210
HP:0001438	Abnormal abdomen morphology	4541	MT-ND6	ORPHA:255210
HP:0001438	Abnormal abdomen morphology	4566	MT-TK	ORPHA:255210
HP:0001438	Abnormal abdomen morphology	4233	MET	ORPHA:33402
HP:0001438	Abnormal abdomen morphology	1499	CTNNB1	ORPHA:33402
HP:0001438	Abnormal abdomen morphology	4141	MARS1	OMIM:615486
HP:0001438	Abnormal abdomen morphology	3162	HMOX1	OMIM:614034
HP:0001438	Abnormal abdomen morphology	1855	DVL1	OMIM:616331
HP:0001438	Abnormal abdomen morphology	7086	TKT	ORPHA:488618
HP:0001438	Abnormal abdomen morphology	5189	PEX1	OMIM:214100
HP:0001438	Abnormal abdomen morphology	5189	PEX1	OMIM:601539
HP:0001438	Abnormal abdomen morphology	5189	PEX1	ORPHA:772
HP:0001438	Abnormal abdomen morphology	5189	PEX1	ORPHA:912
HP:0001438	Abnormal abdomen morphology	1080	CFTR	OMIM:219700
HP:0001438	Abnormal abdomen morphology	2212	FCGR2A	OMIM:219700
HP:0001438	Abnormal abdomen morphology	55687	TRMU	OMIM:613070
HP:0001438	Abnormal abdomen morphology	55687	TRMU	ORPHA:254864
HP:0001438	Abnormal abdomen morphology	5105	PCK1	OMIM:261680
HP:0001438	Abnormal abdomen morphology	130589	GALM	OMIM:618881
HP:0001438	Abnormal abdomen morphology	130589	GALM	ORPHA:570422
HP:0001438	Abnormal abdomen morphology	91869	RFT1	ORPHA:244310
HP:0001438	Abnormal abdomen morphology	91869	RFT1	OMIM:612015
HP:0001438	Abnormal abdomen morphology	11232	POLG2	OMIM:618528
HP:0001438	Abnormal abdomen morphology	5155	PDGFB	ORPHA:1980
HP:0001438	Abnormal abdomen morphology	9213	XPR1	ORPHA:1980
HP:0001438	Abnormal abdomen morphology	5159	PDGFRB	ORPHA:1980
HP:0001438	Abnormal abdomen morphology	57462	MYORG	ORPHA:1980
HP:0001438	Abnormal abdomen morphology	6575	SLC20A2	ORPHA:1980
HP:0001438	Abnormal abdomen morphology	58494	JAM2	ORPHA:1980
HP:0001438	Abnormal abdomen morphology	5424	POLD1	OMIM:615381
HP:0001438	Abnormal abdomen morphology	388962	BOLA3	OMIM:614299
HP:0001438	Abnormal abdomen morphology	788	SLC25A20	ORPHA:159
HP:0001438	Abnormal abdomen morphology	788	SLC25A20	OMIM:212138
HP:0001438	Abnormal abdomen morphology	5373	PMM2	OMIM:212065
HP:0001438	Abnormal abdomen morphology	1244	ABCC2	ORPHA:234
HP:0001438	Abnormal abdomen morphology	5311	PKD2	OMIM:613095
HP:0001438	Abnormal abdomen morphology	8482	SEMA7A	OMIM:619874
HP:0001438	Abnormal abdomen morphology	2200	FBN1	OMIM:614185
HP:0001438	Abnormal abdomen morphology	10068	IL18BP	OMIM:618549
HP:0001438	Abnormal abdomen morphology	7381	UQCRB	OMIM:615158
HP:0001438	Abnormal abdomen morphology	5836	PYGL	OMIM:232700
HP:0001438	Abnormal abdomen morphology	5836	PYGL	ORPHA:369
HP:0001438	Abnormal abdomen morphology	54440	SASH3	OMIM:301082
HP:0001438	Abnormal abdomen morphology	2203	FBP1	ORPHA:348
HP:0001438	Abnormal abdomen morphology	2203	FBP1	OMIM:229700
HP:0001438	Abnormal abdomen morphology	166785	MMAA	OMIM:251100
HP:0001438	Abnormal abdomen morphology	85365	ALG2	ORPHA:79326
HP:0001438	Abnormal abdomen morphology	85365	ALG2	OMIM:607906
HP:0001438	Abnormal abdomen morphology	57169	ZNFX1	OMIM:619644
HP:0001438	Abnormal abdomen morphology	10991	SLC38A3	OMIM:619881
HP:0001438	Abnormal abdomen morphology	11231	SEC63	ORPHA:2924
HP:0001438	Abnormal abdomen morphology	11231	SEC63	OMIM:617004
HP:0001438	Abnormal abdomen morphology	4041	LRP5	ORPHA:2924
HP:0001438	Abnormal abdomen morphology	7841	MOGS	ORPHA:79330
HP:0001438	Abnormal abdomen morphology	7841	MOGS	OMIM:606056
HP:0001438	Abnormal abdomen morphology	38	ACAT1	ORPHA:134
HP:0001438	Abnormal abdomen morphology	4351	MPI	ORPHA:79319
HP:0001438	Abnormal abdomen morphology	4351	MPI	OMIM:602579
HP:0001438	Abnormal abdomen morphology	7030	TFE3	OMIM:301066
HP:0001438	Abnormal abdomen morphology	51651	PTRH2	OMIM:616263
HP:0001438	Abnormal abdomen morphology	51651	PTRH2	ORPHA:456312
HP:0001438	Abnormal abdomen morphology	5966	REL	OMIM:619652
HP:0001438	Abnormal abdomen morphology	23162	MAPK8IP3	OMIM:618443
HP:0001438	Abnormal abdomen morphology	84168	ANTXR1	OMIM:230740
HP:0001438	Abnormal abdomen morphology	3172	HNF4A	OMIM:616026
HP:0001438	Abnormal abdomen morphology	3172	HNF4A	ORPHA:263455
HP:0001438	Abnormal abdomen morphology	6576	SLC25A1	OMIM:615182
HP:0001438	Abnormal abdomen morphology	6927	HNF1A	ORPHA:324575
HP:0001438	Abnormal abdomen morphology	9742	IFT140	OMIM:266920
HP:0001438	Abnormal abdomen morphology	205327	C2orf69	OMIM:619423
HP:0001438	Abnormal abdomen morphology	4633	MYL2	OMIM:619424
HP:0001438	Abnormal abdomen morphology	113220	KIF12	OMIM:619662
HP:0001438	Abnormal abdomen morphology	3000	GUCY2D	OMIM:204000
HP:0001438	Abnormal abdomen morphology	335	APOA1	OMIM:620657
HP:0001438	Abnormal abdomen morphology	435	ASL	ORPHA:23
HP:0001438	Abnormal abdomen morphology	435	ASL	OMIM:207900
HP:0001438	Abnormal abdomen morphology	3155	HMGCL	ORPHA:20
HP:0001438	Abnormal abdomen morphology	3155	HMGCL	OMIM:246450
HP:0001438	Abnormal abdomen morphology	10466	COG5	ORPHA:263487
HP:0001438	Abnormal abdomen morphology	54517	PUS7	OMIM:618342
HP:0001438	Abnormal abdomen morphology	85476	GFM1	OMIM:609060
HP:0001438	Abnormal abdomen morphology	8818	DPM2	ORPHA:329178
HP:0001438	Abnormal abdomen morphology	10102	TSFM	OMIM:610505
HP:0001438	Abnormal abdomen morphology	5095	PCCA	ORPHA:35
HP:0001438	Abnormal abdomen morphology	5095	PCCA	OMIM:606054
HP:0001438	Abnormal abdomen morphology	5096	PCCB	ORPHA:35
HP:0001438	Abnormal abdomen morphology	5096	PCCB	OMIM:606054
HP:0001438	Abnormal abdomen morphology	6514	SLC2A2	OMIM:227810
HP:0001438	Abnormal abdomen morphology	6514	SLC2A2	ORPHA:2088
HP:0001438	Abnormal abdomen morphology	4695	NDUFA2	OMIM:618235
HP:0001438	Abnormal abdomen morphology	79868	ALG13	OMIM:300884
HP:0001438	Abnormal abdomen morphology	6729	SRP54	OMIM:260400
HP:0001438	Abnormal abdomen morphology	51119	SBDS	OMIM:260400
HP:0001438	Abnormal abdomen morphology	51119	SBDS	ORPHA:811
HP:0001438	Abnormal abdomen morphology	134218	DNAJC21	OMIM:260400
HP:0001438	Abnormal abdomen morphology	134218	DNAJC21	ORPHA:811
HP:0001438	Abnormal abdomen morphology	150	ADRA2A	OMIM:620679
HP:0001438	Abnormal abdomen morphology	10166	SLC25A15	ORPHA:415
HP:0001438	Abnormal abdomen morphology	10166	SLC25A15	OMIM:238970
HP:0001438	Abnormal abdomen morphology	34	ACADM	OMIM:201450
HP:0001438	Abnormal abdomen morphology	34	ACADM	ORPHA:42
HP:0001438	Abnormal abdomen morphology	7468	NSD2	OMIM:619695
HP:0001438	Abnormal abdomen morphology	11145	PLAAT3	OMIM:620683
HP:0001438	Abnormal abdomen morphology	3158	HMGCS2	OMIM:605911
HP:0001438	Abnormal abdomen morphology	4547	MTTP	ORPHA:14
HP:0001438	Abnormal abdomen morphology	112812	FDX2	OMIM:251900
HP:0001438	Abnormal abdomen morphology	4556	MT-TE	ORPHA:254864
HP:0001438	Abnormal abdomen morphology	8802	SUCLG1	ORPHA:17
HP:0001438	Abnormal abdomen morphology	6811	STX5	OMIM:620454
HP:0001438	Abnormal abdomen morphology	60386	SLC25A19	ORPHA:99742
HP:0001438	Abnormal abdomen morphology	60386	SLC25A19	OMIM:607196
HP:0001438	Abnormal abdomen morphology	37	ACADVL	OMIM:201475
HP:0001438	Abnormal abdomen morphology	37	ACADVL	ORPHA:26793
HP:0001438	Abnormal abdomen morphology	57061	HYMAI	ORPHA:96191
HP:0001438	Abnormal abdomen morphology	5325	PLAGL1	ORPHA:96191
HP:0001438	Abnormal abdomen morphology	570	BAAT	OMIM:619232
HP:0001438	Abnormal abdomen morphology	94005	PIGS	OMIM:618143
HP:0001438	Abnormal abdomen morphology	84665	MYPN	ORPHA:75249
HP:0001438	Abnormal abdomen morphology	2318	FLNC	ORPHA:75249
HP:0001438	Abnormal abdomen morphology	7139	TNNT2	ORPHA:75249
HP:0001438	Abnormal abdomen morphology	7137	TNNI3	ORPHA:75249
HP:0001438	Abnormal abdomen morphology	8567	MADD	OMIM:619004
HP:0001438	Abnormal abdomen morphology	8567	MADD	OMIM:619005
HP:0001438	Abnormal abdomen morphology	374354	NHLRC2	OMIM:618278
HP:0001438	Abnormal abdomen morphology	374879	ZNF699	OMIM:619488
HP:0001438	Abnormal abdomen morphology	10651	MTX2	OMIM:619127
HP:0001438	Abnormal abdomen morphology	7284	TUFM	OMIM:610678
HP:0001438	Abnormal abdomen morphology	3030	HADHA	OMIM:609016
HP:0001438	Abnormal abdomen morphology	3030	HADHA	ORPHA:5
HP:0001438	Abnormal abdomen morphology	10551	AGR2	OMIM:620233
HP:0001438	Abnormal abdomen morphology	55670	PEX26	ORPHA:772
HP:0001438	Abnormal abdomen morphology	55670	PEX26	OMIM:614872
HP:0001438	Abnormal abdomen morphology	55670	PEX26	ORPHA:912
HP:0001438	Abnormal abdomen morphology	5824	PEX19	ORPHA:772
HP:0001438	Abnormal abdomen morphology	5824	PEX19	ORPHA:912
HP:0001438	Abnormal abdomen morphology	8504	PEX3	ORPHA:772
HP:0001438	Abnormal abdomen morphology	8504	PEX3	OMIM:614882
HP:0001438	Abnormal abdomen morphology	8504	PEX3	ORPHA:912
HP:0001438	Abnormal abdomen morphology	9409	PEX16	ORPHA:772
HP:0001438	Abnormal abdomen morphology	9409	PEX16	OMIM:614876
HP:0001438	Abnormal abdomen morphology	9409	PEX16	ORPHA:912
HP:0001438	Abnormal abdomen morphology	5190	PEX6	ORPHA:772
HP:0001438	Abnormal abdomen morphology	5190	PEX6	OMIM:614862
HP:0001438	Abnormal abdomen morphology	5190	PEX6	OMIM:614863
HP:0001438	Abnormal abdomen morphology	5190	PEX6	ORPHA:912
HP:0001438	Abnormal abdomen morphology	8799	PEX11B	ORPHA:772
HP:0001438	Abnormal abdomen morphology	8799	PEX11B	ORPHA:912
HP:0001438	Abnormal abdomen morphology	5193	PEX12	ORPHA:772
HP:0001438	Abnormal abdomen morphology	5193	PEX12	OMIM:614859
HP:0001438	Abnormal abdomen morphology	5193	PEX12	ORPHA:912
HP:0001438	Abnormal abdomen morphology	5193	PEX12	OMIM:266510
HP:0001438	Abnormal abdomen morphology	5194	PEX13	ORPHA:772
HP:0001438	Abnormal abdomen morphology	5194	PEX13	ORPHA:912
HP:0001438	Abnormal abdomen morphology	5195	PEX14	ORPHA:772
HP:0001438	Abnormal abdomen morphology	5195	PEX14	OMIM:614887
HP:0001438	Abnormal abdomen morphology	5195	PEX14	ORPHA:912
HP:0001438	Abnormal abdomen morphology	5192	PEX10	ORPHA:772
HP:0001438	Abnormal abdomen morphology	5192	PEX10	OMIM:614870
HP:0001438	Abnormal abdomen morphology	5192	PEX10	ORPHA:912
HP:0001438	Abnormal abdomen morphology	9487	PIGL	OMIM:280000
HP:0001438	Abnormal abdomen morphology	383	ARG1	OMIM:207800
HP:0001438	Abnormal abdomen morphology	5236	PGM1	OMIM:614921
HP:0001438	Abnormal abdomen morphology	55005	RMND1	OMIM:614922
HP:0001438	Abnormal abdomen morphology	22800	RRAS2	ORPHA:648
HP:0001438	Abnormal abdomen morphology	8216	LZTR1	ORPHA:648
HP:0001438	Abnormal abdomen morphology	6016	RIT1	ORPHA:648
HP:0001438	Abnormal abdomen morphology	6237	RRAS	ORPHA:648
HP:0001438	Abnormal abdomen morphology	5894	RAF1	ORPHA:648
HP:0001438	Abnormal abdomen morphology	22808	MRAS	ORPHA:648
HP:0001438	Abnormal abdomen morphology	200734	SPRED2	ORPHA:648
HP:0001438	Abnormal abdomen morphology	6654	SOS1	ORPHA:648
HP:0001438	Abnormal abdomen morphology	6655	SOS2	ORPHA:648
HP:0001438	Abnormal abdomen morphology	5781	PTPN11	ORPHA:648
HP:0001438	Abnormal abdomen morphology	5922	RASA2	ORPHA:648
HP:0001438	Abnormal abdomen morphology	1376	CPT2	ORPHA:228305
HP:0001438	Abnormal abdomen morphology	1376	CPT2	ORPHA:228308
HP:0001438	Abnormal abdomen morphology	1376	CPT2	OMIM:600649
HP:0001438	Abnormal abdomen morphology	1376	CPT2	OMIM:608836
HP:0001438	Abnormal abdomen morphology	2353	FOS	ORPHA:528
HP:0001438	Abnormal abdomen morphology	124454	EARS2	OMIM:614924
HP:0001438	Abnormal abdomen morphology	1719	DHFR	OMIM:613839
HP:0001438	Abnormal abdomen morphology	64131	XYLT1	ORPHA:370930
HP:0001438	Abnormal abdomen morphology	129285	PPP1R21	OMIM:619383
HP:0001438	Abnormal abdomen morphology	27183	VPS4A	OMIM:619273
HP:0001438	Abnormal abdomen morphology	6309	SC5D	ORPHA:46059
HP:0001438	Abnormal abdomen morphology	4574	MT-TS1	OMIM:220110
HP:0001438	Abnormal abdomen morphology	4570	MT-TN	OMIM:220110
HP:0001438	Abnormal abdomen morphology	6834	SURF1	OMIM:220110
HP:0001438	Abnormal abdomen morphology	83700	JAM3	OMIM:613730
HP:0001438	Abnormal abdomen morphology	7518	XRCC4	ORPHA:99812
HP:0001438	Abnormal abdomen morphology	8854	ALDH1A2	OMIM:620025
HP:0001438	Abnormal abdomen morphology	9051	PSTPIP1	OMIM:601979
HP:0001438	Abnormal abdomen morphology	54968	TMEM70	ORPHA:1194
HP:0001438	Abnormal abdomen morphology	6341	SCO1	OMIM:619048
HP:0001438	Abnormal abdomen morphology	6392	SDHD	OMIM:619167
HP:0001438	Abnormal abdomen morphology	79947	DHDDS	OMIM:613861
HP:0001438	Abnormal abdomen morphology	55788	LMBRD1	OMIM:277380
HP:0001438	Abnormal abdomen morphology	10225	CD96	OMIM:211750
HP:0001438	Abnormal abdomen morphology	30061	SLC40A1	OMIM:606069
HP:0001438	Abnormal abdomen morphology	79631	EFL1	ORPHA:811
HP:0001438	Abnormal abdomen morphology	79631	EFL1	OMIM:617941
HP:0001438	Abnormal abdomen morphology	84987	COX14	OMIM:619053
HP:0001438	Abnormal abdomen morphology	1738	DLD	ORPHA:2394
HP:0001438	Abnormal abdomen morphology	1738	DLD	OMIM:246900
HP:0001438	Abnormal abdomen morphology	4509	MT-ATP8	ORPHA:254913
HP:0001438	Abnormal abdomen morphology	514	ATP5F1E	ORPHA:254913
HP:0001438	Abnormal abdomen morphology	513	ATP5F1D	ORPHA:254913
HP:0001438	Abnormal abdomen morphology	498	ATP5F1A	ORPHA:254913
HP:0001438	Abnormal abdomen morphology	84833	ATP5MK	ORPHA:254913
HP:0001438	Abnormal abdomen morphology	91647	ATPAF2	ORPHA:254913
HP:0001438	Abnormal abdomen morphology	91647	ATPAF2	OMIM:604273
HP:0001438	Abnormal abdomen morphology	2538	G6PC1	OMIM:232200
HP:0001438	Abnormal abdomen morphology	9927	MFN2	ORPHA:2398
HP:0001438	Abnormal abdomen morphology	208	AKT2	ORPHA:79085
HP:0001438	Abnormal abdomen morphology	55858	TMEM165	OMIM:614727
HP:0001438	Abnormal abdomen morphology	23116	TOGARAM1	OMIM:619185
HP:0001438	Abnormal abdomen morphology	9377	COX5A	OMIM:619064
HP:0001438	Abnormal abdomen morphology	63894	VIPAS39	OMIM:613404
HP:0001438	Abnormal abdomen morphology	374393	FAM111B	OMIM:615704
HP:0001438	Abnormal abdomen morphology	1798	DPAGT1	ORPHA:86309
HP:0001438	Abnormal abdomen morphology	5091	PC	OMIM:266150
HP:0001438	Abnormal abdomen morphology	51660	MPC1	OMIM:614741
HP:0001438	Abnormal abdomen morphology	3991	LIPE	ORPHA:435660
HP:0001438	Abnormal abdomen morphology	4519	MT-CYB	ORPHA:137675
HP:0001438	Abnormal abdomen morphology	23600	AMACR	OMIM:214950
HP:0001438	Abnormal abdomen morphology	9719	ADAMTSL2	OMIM:231050
HP:0001438	Abnormal abdomen morphology	10165	SLC25A13	ORPHA:247598
HP:0001438	Abnormal abdomen morphology	10165	SLC25A13	ORPHA:247585
HP:0001438	Abnormal abdomen morphology	388015	RTL1	ORPHA:96334
HP:0001438	Abnormal abdomen morphology	8788	DLK1	ORPHA:96334
HP:0001438	Abnormal abdomen morphology	55384	MEG3	ORPHA:96334
HP:0001438	Abnormal abdomen morphology	3911	LAMA5	OMIM:620076
HP:0001438	Abnormal abdomen morphology	55343	SLC35C1	ORPHA:99843
HP:0001438	Abnormal abdomen morphology	8314	BAP1	ORPHA:50251
HP:0001438	Abnormal abdomen morphology	1028	CDKN1C	OMIM:130650
HP:0001438	Abnormal abdomen morphology	3481	IGF2	OMIM:130650
HP:0001438	Abnormal abdomen morphology	3784	KCNQ1	OMIM:130650
HP:0001438	Abnormal abdomen morphology	10984	KCNQ1OT1	OMIM:130650
HP:0001438	Abnormal abdomen morphology	162417	NAGS	ORPHA:927
HP:0001438	Abnormal abdomen morphology	445	ASS1	OMIM:215700
HP:0001438	Abnormal abdomen morphology	147007	TMEM199	OMIM:616829
HP:0001438	Abnormal abdomen morphology	10568	SLC34A2	ORPHA:60025
HP:0001438	Abnormal abdomen morphology	51067	YARS2	OMIM:613561
HP:0001438	Abnormal abdomen morphology	7351	UCP2	ORPHA:276556
HP:0001438	Abnormal abdomen morphology	4054	LTBP3	OMIM:617809
HP:0001438	Abnormal abdomen morphology	6948	TCN2	OMIM:275350
HP:0001438	Abnormal abdomen morphology	55593	OTUD5	OMIM:301056
HP:0001438	Abnormal abdomen morphology	3074	HEXB	OMIM:268800
HP:0001438	Abnormal abdomen morphology	549	AUH	ORPHA:67046
HP:0001438	Abnormal abdomen morphology	10525	HYOU1	OMIM:233600
HP:0001438	Abnormal abdomen morphology	6833	ABCC8	ORPHA:276575
HP:0001438	Abnormal abdomen morphology	3767	KCNJ11	ORPHA:276580
HP:0001438	Abnormal abdomen morphology	7547	ZIC3	OMIM:306955
HP:0001438	Abnormal abdomen morphology	26007	TKFC	OMIM:618805
HP:0001438	Abnormal abdomen morphology	708	C1QBP	OMIM:617713
HP:0001438	Abnormal abdomen morphology	284086	NEK8	OMIM:615415
HP:0001438	Abnormal abdomen morphology	55764	IFT122	OMIM:218330
HP:0001438	Abnormal abdomen morphology	55210	ATAD3A	OMIM:618810
HP:0001438	Abnormal abdomen morphology	326625	MMAB	OMIM:251110
HP:0001438	Abnormal abdomen morphology	760	CA2	ORPHA:2785
HP:0001438	Abnormal abdomen morphology	2584	GALK1	ORPHA:79237
HP:0001438	Abnormal abdomen morphology	9997	SCO2	OMIM:604377
HP:0001438	Abnormal abdomen morphology	11222	MRPL3	OMIM:614582
HP:0001438	Abnormal abdomen morphology	2588	GALNS	OMIM:253000
HP:0001438	Abnormal abdomen morphology	51520	LARS1	OMIM:615438
HP:0001438	Abnormal abdomen morphology	26047	CNTNAP2	ORPHA:163681
HP:0001438	Abnormal abdomen morphology	200894	ARL13B	OMIM:612291
HP:0001438	Abnormal abdomen morphology	28957	MRPS28	OMIM:618958
HP:0001438	Abnormal abdomen morphology	27232	GNMT	OMIM:606664
HP:0001438	Abnormal abdomen morphology	51081	MRPS7	OMIM:617872
HP:0001438	Abnormal abdomen morphology	178	AGL	OMIM:232400
HP:0001438	Abnormal abdomen morphology	4668	NAGA	ORPHA:79281
HP:0001438	Abnormal abdomen morphology	4668	NAGA	ORPHA:79279
HP:0001438	Abnormal abdomen morphology	2639	GCDH	OMIM:231670
HP:0001438	Abnormal abdomen morphology	8625	RFXANK	OMIM:620815
HP:0001438	Abnormal abdomen morphology	57728	WDR19	OMIM:614376
HP:0001438	Abnormal abdomen morphology	1794	DOCK2	OMIM:616433
HP:0001438	Abnormal abdomen morphology	2110	ETFDH	OMIM:231680
HP:0001438	Abnormal abdomen morphology	2108	ETFA	OMIM:231680
HP:0001438	Abnormal abdomen morphology	2109	ETFB	OMIM:231680
HP:0001438	Abnormal abdomen morphology	5052	PRDX1	OMIM:277400
HP:0001438	Abnormal abdomen morphology	25974	MMACHC	OMIM:277400
HP:0001438	Abnormal abdomen morphology	5476	CTSA	OMIM:256540
HP:0001438	Abnormal abdomen morphology	29110	TBK1	OMIM:620880
HP:0001438	Abnormal abdomen morphology	284252	KCTD1	ORPHA:2036
HP:0001438	Abnormal abdomen morphology	388662	SLC6A17	ORPHA:457212
HP:0001438	Abnormal abdomen morphology	2815	GP9	ORPHA:274
HP:0001438	Abnormal abdomen morphology	23095	KIF1B	OMIM:256700
HP:0001438	Abnormal abdomen morphology	166379	BBS12	OMIM:615989
HP:0001438	Abnormal abdomen morphology	5978	REST	ORPHA:654
HP:0001438	Abnormal abdomen morphology	675	BRCA2	ORPHA:654
HP:0001438	Abnormal abdomen morphology	10155	TRIM28	ORPHA:654
HP:0001438	Abnormal abdomen morphology	11281	POU6F2	ORPHA:654
HP:0001438	Abnormal abdomen morphology	2719	GPC3	ORPHA:654
HP:0001438	Abnormal abdomen morphology	283120	H19	ORPHA:654
HP:0001438	Abnormal abdomen morphology	4613	MYCN	ORPHA:635
HP:0001438	Abnormal abdomen morphology	238	ALK	ORPHA:635
HP:0001438	Abnormal abdomen morphology	389421	LIN28B	ORPHA:635
HP:0001438	Abnormal abdomen morphology	4004	LMO1	ORPHA:635
HP:0001438	Abnormal abdomen morphology	57531	HACE1	ORPHA:635
HP:0001438	Abnormal abdomen morphology	8929	PHOX2B	ORPHA:635
HP:0001438	Abnormal abdomen morphology	4665	NAB2	ORPHA:2126
HP:0001438	Abnormal abdomen morphology	6778	STAT6	ORPHA:2126
HP:0001438	Abnormal abdomen morphology	404672	GTF2H5	OMIM:616395
HP:0001438	Abnormal abdomen morphology	1281	COL3A1	OMIM:130050
HP:0001438	Abnormal abdomen morphology	1281	COL3A1	ORPHA:286
HP:0001438	Abnormal abdomen morphology	4088	SMAD3	OMIM:613795
HP:0007830	Adult-onset night blindness	6094	ROM1	OMIM:608133
HP:0007830	Adult-onset night blindness	5961	PRPH2	OMIM:608133
HP:0007830	Adult-onset night blindness	114902	C1QTNF5	OMIM:605670
HP:0007832	Pigmentation of the sclera	3081	HGD	ORPHA:56
HP:0007832	Pigmentation of the sclera	3081	HGD	OMIM:203500
HP:0007832	Pigmentation of the sclera	5573	PRKAR1A	OMIM:160980
HP:0007833	Anterior chamber synechiae	145173	B3GLCT	ORPHA:709
HP:0007833	Anterior chamber synechiae	4693	NDP	ORPHA:649
HP:0007833	Anterior chamber synechiae	6775	STAT4	ORPHA:85410
HP:0007833	Anterior chamber synechiae	3560	IL2RB	ORPHA:85410
HP:0007833	Anterior chamber synechiae	79722	ANKRD55	ORPHA:85410
HP:0007833	Anterior chamber synechiae	26191	PTPN22	ORPHA:85410
HP:0007833	Anterior chamber synechiae	919	CD247	ORPHA:85410
HP:0007833	Anterior chamber synechiae	3559	IL2RA	ORPHA:85410
HP:0007833	Anterior chamber synechiae	5771	PTPN2	ORPHA:85410
HP:0007833	Anterior chamber synechiae	444	ASPH	OMIM:601552
HP:0007833	Anterior chamber synechiae	58495	OVOL2	OMIM:122000
HP:0007833	Anterior chamber synechiae	58495	OVOL2	ORPHA:98973
HP:0007833	Anterior chamber synechiae	7837	PXDN	OMIM:269400
HP:0007833	Anterior chamber synechiae	5080	PAX6	OMIM:604229
HP:0007833	Anterior chamber synechiae	5080	PAX6	ORPHA:708
HP:0007833	Anterior chamber synechiae	2301	FOXE3	ORPHA:83461
HP:0007833	Anterior chamber synechiae	2301	FOXE3	ORPHA:708
HP:0007833	Anterior chamber synechiae	1545	CYP1B1	ORPHA:708
HP:0007833	Anterior chamber synechiae	5308	PITX2	ORPHA:708
HP:0007833	Anterior chamber synechiae	2296	FOXC1	ORPHA:708
HP:0007833	Anterior chamber synechiae	30813	VSX1	OMIM:614195
HP:0007833	Anterior chamber synechiae	30813	VSX1	ORPHA:98973
HP:0007833	Anterior chamber synechiae	6935	ZEB1	ORPHA:98973
HP:0007833	Anterior chamber synechiae	79977	GRHL2	ORPHA:98973
HP:0007833	Anterior chamber synechiae	1296	COL8A2	ORPHA:98973
HP:0007833	Anterior chamber synechiae	80781	COL18A1	OMIM:618880
HP:0007833	Anterior chamber synechiae	220202	ATOH7	OMIM:221900
HP:0007833	Anterior chamber synechiae	9227	LRAT	ORPHA:364055
HP:0007833	Anterior chamber synechiae	55812	SPATA7	ORPHA:364055
HP:0007833	Anterior chamber synechiae	6121	RPE65	ORPHA:364055
HP:0007833	Anterior chamber synechiae	167691	LCA5	ORPHA:364055
HP:0007833	Anterior chamber synechiae	170691	ADAMTS17	OMIM:613195
HP:0007833	Anterior chamber synechiae	9215	LARGE1	OMIM:613154
HP:0007833	Anterior chamber synechiae	406987	MIR204	OMIM:616722
HP:0007833	Anterior chamber synechiae	355	FAS	ORPHA:3437
HP:0007833	Anterior chamber synechiae	3166	HMX1	OMIM:612109
HP:0004690	Thickened Achilles tendon	3081	HGD	ORPHA:56
HP:0004690	Thickened Achilles tendon	3081	HGD	OMIM:203500
HP:0004690	Thickened Achilles tendon	3265	HRAS	ORPHA:3071
HP:0004690	Thickened Achilles tendon	3848	KRT1	ORPHA:530838
HP:0001838	Rocker bottom foot	2074	ERCC6	OMIM:214150
HP:0001838	Rocker bottom foot	23265	EXOC7	OMIM:619072
HP:0001838	Rocker bottom foot	55906	ZC4H2	OMIM:301041
HP:0001838	Rocker bottom foot	80347	COASY	OMIM:618266
HP:0001838	Rocker bottom foot	5447	POR	OMIM:201750
HP:0001838	Rocker bottom foot	5447	POR	ORPHA:95699
HP:0001838	Rocker bottom foot	5447	POR	OMIM:207410
HP:0001838	Rocker bottom foot	54809	SAMD9	OMIM:617053
HP:0001838	Rocker bottom foot	285489	DOK7	OMIM:618389
HP:0001838	Rocker bottom foot	8294	H4C9	OMIM:619951
HP:0001838	Rocker bottom foot	3236	HOXD10	OMIM:192950
HP:0001838	Rocker bottom foot	4593	MUSK	OMIM:208150
HP:0001838	Rocker bottom foot	10526	IPO8	OMIM:619472
HP:0001838	Rocker bottom foot	29895	MYL11	OMIM:619110
HP:0001838	Rocker bottom foot	6659	SOX4	OMIM:618506
HP:0001838	Rocker bottom foot	1861	TOR1A	OMIM:618947
HP:0001838	Rocker bottom foot	9820	CUL7	ORPHA:2616
HP:0001838	Rocker bottom foot	23363	OBSL1	ORPHA:2616
HP:0001838	Rocker bottom foot	83987	CCDC8	ORPHA:2616
HP:0001838	Rocker bottom foot	9894	TELO2	ORPHA:488642
HP:0001838	Rocker bottom foot	55627	SMPD4	OMIM:618622
HP:0001838	Rocker bottom foot	81031	SLC2A10	ORPHA:3342
HP:0001838	Rocker bottom foot	7486	WRN	ORPHA:902
HP:0001838	Rocker bottom foot	55593	OTUD5	OMIM:301056
HP:0001838	Rocker bottom foot	51611	DPH5	OMIM:620070
HP:0001838	Rocker bottom foot	55315	SLC29A3	OMIM:602782
HP:0001838	Rocker bottom foot	4927	NUP88	OMIM:618393
HP:0001838	Rocker bottom foot	4094	MAF	ORPHA:1272
HP:0001838	Rocker bottom foot	8314	BAP1	OMIM:619762
HP:0001838	Rocker bottom foot	2073	ERCC5	OMIM:616570
HP:0001838	Rocker bottom foot	10436	EMG1	ORPHA:1270
HP:0001838	Rocker bottom foot	10436	EMG1	OMIM:211180
HP:0001838	Rocker bottom foot	5649	RELN	ORPHA:89844
HP:0001838	Rocker bottom foot	10300	KATNB1	ORPHA:89844
HP:0001838	Rocker bottom foot	54820	NDE1	ORPHA:89844
HP:0001838	Rocker bottom foot	113179	ADAT3	ORPHA:363528
HP:0001838	Rocker bottom foot	9928	KIF14	OMIM:616258
HP:0001838	Rocker bottom foot	2263	FGFR2	OMIM:207410
HP:0001838	Rocker bottom foot	9373	PLAA	ORPHA:521426
HP:0001838	Rocker bottom foot	9373	PLAA	OMIM:617527
HP:0001838	Rocker bottom foot	16	AARS1	OMIM:616339
HP:0001838	Rocker bottom foot	57492	ARID1B	ORPHA:251056
HP:0001838	Rocker bottom foot	2068	ERCC2	OMIM:610756
HP:0001838	Rocker bottom foot	2316	FLNA	OMIM:304120
HP:0001838	Rocker bottom foot	2067	ERCC1	OMIM:610758
HP:0001838	Rocker bottom foot	5189	PEX1	OMIM:214100
HP:0001838	Rocker bottom foot	8241	RBM10	ORPHA:2886
HP:0001838	Rocker bottom foot	8241	RBM10	OMIM:311900
HP:0001838	Rocker bottom foot	7169	TPM2	OMIM:108120
HP:0001838	Rocker bottom foot	7169	TPM2	ORPHA:1146
HP:0001838	Rocker bottom foot	1146	CHRNG	OMIM:265000
HP:0001838	Rocker bottom foot	4621	MYH3	OMIM:193700
HP:0001838	Rocker bottom foot	4621	MYH3	ORPHA:1146
HP:0001838	Rocker bottom foot	8218	CLTCL1	ORPHA:453510
HP:0001838	Rocker bottom foot	89970	RSPRY1	ORPHA:457395
HP:0001838	Rocker bottom foot	2733	GLE1	OMIM:611890
HP:0001838	Rocker bottom foot	23511	NUP188	OMIM:618804
HP:0001838	Rocker bottom foot	7140	TNNT3	ORPHA:1146
HP:0001838	Rocker bottom foot	259232	NALCN	ORPHA:1146
HP:0001838	Rocker bottom foot	7136	TNNI2	ORPHA:1146
HP:0001838	Rocker bottom foot	7136	TNNI2	OMIM:601680
HP:0001838	Rocker bottom foot	4604	MYBPC1	ORPHA:1146
HP:0001838	Rocker bottom foot	4604	MYBPC1	OMIM:614335
HP:0001838	Rocker bottom foot	55681	SCYL2	ORPHA:1143
HP:0001838	Rocker bottom foot	55681	SCYL2	OMIM:618766
HP:0001838	Rocker bottom foot	84570	COL25A1	ORPHA:1143
HP:0001838	Rocker bottom foot	57222	ERGIC1	ORPHA:1143
HP:0001838	Rocker bottom foot	10269	ZMPSTE24	OMIM:275210
HP:0001838	Rocker bottom foot	91647	ATPAF2	OMIM:604273
HP:0001838	Rocker bottom foot	22827	PUF60	ORPHA:508488
HP:0001838	Rocker bottom foot	9896	FIG4	ORPHA:3472
HP:0001838	Rocker bottom foot	55697	VAC14	ORPHA:3472
HP:0001838	Rocker bottom foot	29968	PSAT1	OMIM:616038
HP:0001838	Rocker bottom foot	4233	MET	OMIM:620019
HP:0001838	Rocker bottom foot	27145	FILIP1	OMIM:620775
HP:0001838	Rocker bottom foot	54551	MAGEL2	OMIM:615547
HP:0001838	Rocker bottom foot	4000	LMNA	ORPHA:79474
HP:0001838	Rocker bottom foot	26227	PHGDH	OMIM:256520
HP:0008362	Aplasia/Hypoplasia of the hallux	9896	FIG4	OMIM:216340
HP:0008362	Aplasia/Hypoplasia of the hallux	727857	BHLHA9	ORPHA:157801
HP:0008362	Aplasia/Hypoplasia of the hallux	727857	BHLHA9	OMIM:609432
HP:0008362	Aplasia/Hypoplasia of the hallux	90	ACVR1	ORPHA:337
HP:0008362	Aplasia/Hypoplasia of the hallux	51776	MAP3K20	ORPHA:488232
HP:0008362	Aplasia/Hypoplasia of the hallux	5744	PTHLH	ORPHA:93387
HP:0008362	Aplasia/Hypoplasia of the hallux	3239	HOXD13	ORPHA:93387
HP:0008362	Aplasia/Hypoplasia of the hallux	55697	VAC14	ORPHA:3472
HP:0008362	Aplasia/Hypoplasia of the hallux	2077	ERF	OMIM:617180
HP:0008362	Aplasia/Hypoplasia of the hallux	658	BMPR1B	OMIM:112600
HP:0008362	Aplasia/Hypoplasia of the hallux	658	BMPR1B	ORPHA:93388
HP:0008362	Aplasia/Hypoplasia of the hallux	650	BMP2	OMIM:112600
HP:0008362	Aplasia/Hypoplasia of the hallux	8200	GDF5	OMIM:112600
HP:0008362	Aplasia/Hypoplasia of the hallux	8200	GDF5	ORPHA:93388
HP:0008362	Aplasia/Hypoplasia of the hallux	2263	FGFR2	ORPHA:93260
HP:0008362	Aplasia/Hypoplasia of the hallux	2263	FGFR2	ORPHA:93258
HP:0008362	Aplasia/Hypoplasia of the hallux	2263	FGFR2	ORPHA:93259
HP:0008362	Aplasia/Hypoplasia of the hallux	50515	CHST11	OMIM:618167
HP:0008362	Aplasia/Hypoplasia of the hallux	10262	SF3B4	OMIM:154400
HP:0008362	Aplasia/Hypoplasia of the hallux	4256	MGP	OMIM:245150
HP:0008362	Aplasia/Hypoplasia of the hallux	22856	CHSY1	ORPHA:363417
HP:0008362	Aplasia/Hypoplasia of the hallux	7994	KAT6A	OMIM:616268
HP:0008362	Aplasia/Hypoplasia of the hallux	6091	ROBO1	OMIM:620305
HP:0008362	Aplasia/Hypoplasia of the hallux	3209	HOXA13	OMIM:140000
HP:0008362	Aplasia/Hypoplasia of the hallux	3209	HOXA13	ORPHA:2438
HP:0008362	Aplasia/Hypoplasia of the hallux	2260	FGFR1	ORPHA:93258
HP:0008362	Aplasia/Hypoplasia of the hallux	2697	GJA1	ORPHA:2710
HP:0008362	Aplasia/Hypoplasia of the hallux	10060	ABCC9	OMIM:239850
HP:0008362	Aplasia/Hypoplasia of the hallux	10060	ABCC9	ORPHA:1517
HP:0008362	Aplasia/Hypoplasia of the hallux	9241	NOG	OMIM:186500
HP:0008362	Aplasia/Hypoplasia of the hallux	22827	PUF60	ORPHA:508488
HP:0008362	Aplasia/Hypoplasia of the hallux	10815	CPLX1	ORPHA:280
HP:0008362	Aplasia/Hypoplasia of the hallux	10815	CPLX1	OMIM:194190
HP:0008362	Aplasia/Hypoplasia of the hallux	54872	PIGG	ORPHA:280
HP:0008362	Aplasia/Hypoplasia of the hallux	7469	NELFA	ORPHA:280
HP:0008362	Aplasia/Hypoplasia of the hallux	1487	CTBP1	ORPHA:280
HP:0008362	Aplasia/Hypoplasia of the hallux	1487	CTBP1	OMIM:194190
HP:0008362	Aplasia/Hypoplasia of the hallux	3954	LETM1	ORPHA:280
HP:0008362	Aplasia/Hypoplasia of the hallux	3954	LETM1	OMIM:194190
HP:0008362	Aplasia/Hypoplasia of the hallux	7468	NSD2	ORPHA:280
HP:0008362	Aplasia/Hypoplasia of the hallux	7468	NSD2	OMIM:194190
HP:0008362	Aplasia/Hypoplasia of the hallux	9775	EIF4A3	OMIM:268305
HP:0008362	Aplasia/Hypoplasia of the hallux	2316	FLNA	OMIM:311300
HP:0008362	Aplasia/Hypoplasia of the hallux	2316	FLNA	OMIM:304120
HP:0008362	Aplasia/Hypoplasia of the hallux	2316	FLNA	ORPHA:90650
HP:0008362	Aplasia/Hypoplasia of the hallux	2316	FLNA	ORPHA:90652
HP:0008362	Aplasia/Hypoplasia of the hallux	57167	SALL4	ORPHA:959
HP:0008362	Aplasia/Hypoplasia of the hallux	53834	FGFRL1	OMIM:194190
HP:0008362	Aplasia/Hypoplasia of the hallux	3764	KCNJ8	ORPHA:1517
HP:0008362	Aplasia/Hypoplasia of the hallux	2239	GPC4	ORPHA:2662
HP:0008362	Aplasia/Hypoplasia of the hallux	3549	IHH	ORPHA:93388
HP:0008362	Aplasia/Hypoplasia of the hallux	7175	TPR	OMIM:620393
HP:0008362	Aplasia/Hypoplasia of the hallux	2737	GLI3	ORPHA:93322
HP:0004695	Calcaneal epiphyseal stippling	6628	SNRPB	OMIM:117650
HP:0004695	Calcaneal epiphyseal stippling	415	ARSL	ORPHA:79345
HP:0004696	Talipes cavus equinovarus	10397	NDRG1	OMIM:601455
HP:0004696	Talipes cavus equinovarus	6872	TAF1	OMIM:300966
HP:0004696	Talipes cavus equinovarus	4625	MYH7	ORPHA:59135
HP:0004696	Talipes cavus equinovarus	56997	COQ8A	ORPHA:139485
HP:0100533	Inflammatory abnormality of the eye	10804	GJB6	ORPHA:477
HP:0100533	Inflammatory abnormality of the eye	2706	GJB2	ORPHA:477
HP:0100533	Inflammatory abnormality of the eye	2706	GJB2	OMIM:148210
HP:0100533	Inflammatory abnormality of the eye	1643	DDB2	OMIM:278740
HP:0100533	Inflammatory abnormality of the eye	1643	DDB2	ORPHA:910
HP:0100533	Inflammatory abnormality of the eye	5080	PAX6	ORPHA:2334
HP:0100533	Inflammatory abnormality of the eye	5080	PAX6	OMIM:148190
HP:0100533	Inflammatory abnormality of the eye	7454	WAS	ORPHA:906
HP:0100533	Inflammatory abnormality of the eye	7456	WIPF1	ORPHA:906
HP:0100533	Inflammatory abnormality of the eye	2263	FGFR2	OMIM:123500
HP:0100533	Inflammatory abnormality of the eye	22947	DUX4L1	ORPHA:269
HP:0100533	Inflammatory abnormality of the eye	1789	DNMT3B	ORPHA:269
HP:0100533	Inflammatory abnormality of the eye	2483	FRG1	ORPHA:269
HP:0100533	Inflammatory abnormality of the eye	23347	SMCHD1	ORPHA:269
HP:0100533	Inflammatory abnormality of the eye	100288687	DUX4	ORPHA:269
HP:0100533	Inflammatory abnormality of the eye	7507	XPA	OMIM:278700
HP:0100533	Inflammatory abnormality of the eye	7507	XPA	ORPHA:910
HP:0100533	Inflammatory abnormality of the eye	8517	IKBKG	ORPHA:464
HP:0100533	Inflammatory abnormality of the eye	8517	IKBKG	OMIM:308300
HP:0100533	Inflammatory abnormality of the eye	51360	MBTPS2	OMIM:308800
HP:0100533	Inflammatory abnormality of the eye	51360	MBTPS2	OMIM:308205
HP:0100533	Inflammatory abnormality of the eye	51360	MBTPS2	ORPHA:2273
HP:0100533	Inflammatory abnormality of the eye	5429	POLH	OMIM:278750
HP:0100533	Inflammatory abnormality of the eye	5429	POLH	ORPHA:90342
HP:0100533	Inflammatory abnormality of the eye	55343	SLC35C1	ORPHA:99843
HP:0100533	Inflammatory abnormality of the eye	6720	SREBF1	OMIM:619016
HP:0100533	Inflammatory abnormality of the eye	6935	ZEB1	OMIM:613270
HP:0100533	Inflammatory abnormality of the eye	5339	PLEC	OMIM:226670
HP:0100533	Inflammatory abnormality of the eye	8218	CLTCL1	ORPHA:453510
HP:0100533	Inflammatory abnormality of the eye	3572	IL6ST	OMIM:618523
HP:0100533	Inflammatory abnormality of the eye	2074	ERCC6	OMIM:278800
HP:0100533	Inflammatory abnormality of the eye	64127	NOD2	ORPHA:90340
HP:0100533	Inflammatory abnormality of the eye	7508	XPC	OMIM:278720
HP:0100533	Inflammatory abnormality of the eye	7508	XPC	ORPHA:910
HP:0100533	Inflammatory abnormality of the eye	4914	NTRK1	OMIM:256800
HP:0100533	Inflammatory abnormality of the eye	242	ALOX12B	ORPHA:79394
HP:0100533	Inflammatory abnormality of the eye	204219	CERS3	ORPHA:79394
HP:0100533	Inflammatory abnormality of the eye	6820	SULT2B1	ORPHA:79394
HP:0100533	Inflammatory abnormality of the eye	26154	ABCA12	ORPHA:79394
HP:0100533	Inflammatory abnormality of the eye	285848	PNPLA1	ORPHA:79394
HP:0100533	Inflammatory abnormality of the eye	59344	ALOXE3	ORPHA:79394
HP:0100533	Inflammatory abnormality of the eye	348938	NIPAL4	ORPHA:79394
HP:0100533	Inflammatory abnormality of the eye	7051	TGM1	ORPHA:79394
HP:0100533	Inflammatory abnormality of the eye	121214	SDR9C7	ORPHA:79394
HP:0100533	Inflammatory abnormality of the eye	9244	CRLF1	OMIM:272430
HP:0100533	Inflammatory abnormality of the eye	2068	ERCC2	OMIM:278730
HP:0100533	Inflammatory abnormality of the eye	2068	ERCC2	ORPHA:910
HP:0100533	Inflammatory abnormality of the eye	2071	ERCC3	ORPHA:910
HP:0100533	Inflammatory abnormality of the eye	2072	ERCC4	ORPHA:910
HP:0100533	Inflammatory abnormality of the eye	2073	ERCC5	ORPHA:910
HP:0100533	Inflammatory abnormality of the eye	1288	COL4A6	ORPHA:1018
HP:0100533	Inflammatory abnormality of the eye	1287	COL4A5	ORPHA:1018
HP:0100533	Inflammatory abnormality of the eye	23476	BRD4	ORPHA:199
HP:0100533	Inflammatory abnormality of the eye	9126	SMC3	ORPHA:199
HP:0100533	Inflammatory abnormality of the eye	8243	SMC1A	ORPHA:199
HP:0100533	Inflammatory abnormality of the eye	6878	TAF6	ORPHA:199
HP:0100533	Inflammatory abnormality of the eye	25836	NIPBL	ORPHA:199
HP:0100533	Inflammatory abnormality of the eye	55869	HDAC8	ORPHA:199
HP:0100533	Inflammatory abnormality of the eye	5885	RAD21	ORPHA:199
HP:0100533	Inflammatory abnormality of the eye	5980	REV3L	ORPHA:570
HP:0100533	Inflammatory abnormality of the eye	23129	PLXND1	ORPHA:570
HP:0100533	Inflammatory abnormality of the eye	348	APOE	ORPHA:158029
HP:0100533	Inflammatory abnormality of the eye	6868	ADAM17	OMIM:614328
HP:0100533	Inflammatory abnormality of the eye	6868	ADAM17	ORPHA:294023
HP:0100533	Inflammatory abnormality of the eye	1736	DKC1	OMIM:305000
HP:0100533	Inflammatory abnormality of the eye	1736	DKC1	ORPHA:1775
HP:0100533	Inflammatory abnormality of the eye	10095	ARPC1B	OMIM:617718
HP:0100533	Inflammatory abnormality of the eye	79650	USB1	OMIM:604173
HP:0100533	Inflammatory abnormality of the eye	79650	USB1	ORPHA:1775
HP:0100533	Inflammatory abnormality of the eye	6768	ST14	OMIM:602400
HP:0100533	Inflammatory abnormality of the eye	55630	SLC39A4	ORPHA:37
HP:0100533	Inflammatory abnormality of the eye	23556	PIGN	ORPHA:280633
HP:0100533	Inflammatory abnormality of the eye	9496	TBX4	ORPHA:261279
HP:0100533	Inflammatory abnormality of the eye	80169	CTC1	ORPHA:1775
HP:0100533	Inflammatory abnormality of the eye	26277	TINF2	ORPHA:1775
HP:0100533	Inflammatory abnormality of the eye	55651	NHP2	ORPHA:1775
HP:0100533	Inflammatory abnormality of the eye	55135	WRAP53	ORPHA:1775
HP:0100533	Inflammatory abnormality of the eye	51750	RTEL1	ORPHA:1775
HP:0100533	Inflammatory abnormality of the eye	4869	NPM1	ORPHA:1775
HP:0100533	Inflammatory abnormality of the eye	7012	TERC	ORPHA:1775
HP:0100533	Inflammatory abnormality of the eye	55505	NOP10	ORPHA:1775
HP:0100533	Inflammatory abnormality of the eye	5073	PARN	ORPHA:1775
HP:0100533	Inflammatory abnormality of the eye	7015	TERT	ORPHA:1775
HP:0100533	Inflammatory abnormality of the eye	7298	TYMS	ORPHA:1775
HP:0100533	Inflammatory abnormality of the eye	2137	EXTL3	OMIM:617425
HP:0100533	Inflammatory abnormality of the eye	5333	PLCD1	ORPHA:2387
HP:0100533	Inflammatory abnormality of the eye	10758	TRAF3IP2	OMIM:615527
HP:0100533	Inflammatory abnormality of the eye	1474	CST6	OMIM:618535
HP:0100533	Inflammatory abnormality of the eye	6307	MSMO1	OMIM:616834
HP:0100533	Inflammatory abnormality of the eye	488	ATP2A2	ORPHA:218
HP:0100533	Inflammatory abnormality of the eye	1956	EGFR	ORPHA:294023
HP:0100533	Inflammatory abnormality of the eye	695	BTK	OMIM:300755
HP:0100533	Inflammatory abnormality of the eye	695	BTK	ORPHA:47
HP:0100533	Inflammatory abnormality of the eye	695	BTK	OMIM:307200
HP:0100533	Inflammatory abnormality of the eye	987	LRBA	OMIM:614700
HP:0100533	Inflammatory abnormality of the eye	2778	GNAS	ORPHA:94089
HP:0100533	Inflammatory abnormality of the eye	2778	GNAS	ORPHA:79443
HP:0100533	Inflammatory abnormality of the eye	2778	GNAS	ORPHA:79444
HP:0100533	Inflammatory abnormality of the eye	8675	STX16	ORPHA:94089
HP:0100533	Inflammatory abnormality of the eye	1161	ERCC8	ORPHA:90321
HP:0100533	Inflammatory abnormality of the eye	1161	ERCC8	ORPHA:90322
HP:0100533	Inflammatory abnormality of the eye	2067	ERCC1	ORPHA:90322
HP:0100533	Inflammatory abnormality of the eye	5896	RAG1	OMIM:601457
HP:0100533	Inflammatory abnormality of the eye	5897	RAG2	OMIM:601457
HP:0100533	Inflammatory abnormality of the eye	3106	HLA-B	ORPHA:29207
HP:0100533	Inflammatory abnormality of the eye	3106	HLA-B	ORPHA:36426
HP:0100533	Inflammatory abnormality of the eye	1294	COL7A1	OMIM:226600
HP:0100533	Inflammatory abnormality of the eye	162	AP1B1	OMIM:242150
HP:0100533	Inflammatory abnormality of the eye	7132	TNFRSF1A	ORPHA:32960
HP:0100533	Inflammatory abnormality of the eye	7132	TNFRSF1A	OMIM:142680
HP:0100533	Inflammatory abnormality of the eye	7086	TKT	ORPHA:488618
HP:0100533	Inflammatory abnormality of the eye	65082	VPS33A	ORPHA:505248
HP:0100533	Inflammatory abnormality of the eye	10320	IKZF1	ORPHA:36426
HP:0100533	Inflammatory abnormality of the eye	115650	TNFRSF13C	OMIM:240500
HP:0100533	Inflammatory abnormality of the eye	29851	ICOS	OMIM:240500
HP:0100533	Inflammatory abnormality of the eye	29851	ICOS	OMIM:607594
HP:0100533	Inflammatory abnormality of the eye	930	CD19	OMIM:240500
HP:0100533	Inflammatory abnormality of the eye	930	CD19	OMIM:613493
HP:0100533	Inflammatory abnormality of the eye	23495	TNFRSF13B	OMIM:240500
HP:0100533	Inflammatory abnormality of the eye	1380	CR2	OMIM:240500
HP:0100533	Inflammatory abnormality of the eye	7037	TFRC	OMIM:616740
HP:0100533	Inflammatory abnormality of the eye	686	BTD	OMIM:253260
HP:0100533	Inflammatory abnormality of the eye	686	BTD	ORPHA:79241
HP:0100533	Inflammatory abnormality of the eye	2077	ERF	ORPHA:207
HP:0100533	Inflammatory abnormality of the eye	3507	IGHM	OMIM:601495
HP:0100533	Inflammatory abnormality of the eye	3507	IGHM	ORPHA:33110
HP:0100533	Inflammatory abnormality of the eye	8676	STX11	OMIM:603552
HP:0100533	Inflammatory abnormality of the eye	5075	PAX1	OMIM:615560
HP:0100533	Inflammatory abnormality of the eye	974	CD79B	OMIM:612692
HP:0100533	Inflammatory abnormality of the eye	974	CD79B	ORPHA:33110
HP:0100533	Inflammatory abnormality of the eye	5340	PLG	OMIM:217090
HP:0100533	Inflammatory abnormality of the eye	55612	FERMT1	ORPHA:2908
HP:0100533	Inflammatory abnormality of the eye	7390	UROS	OMIM:263700
HP:0100533	Inflammatory abnormality of the eye	5692	PSMB4	OMIM:617591
HP:0100533	Inflammatory abnormality of the eye	7994	KAT6A	OMIM:616268
HP:0100533	Inflammatory abnormality of the eye	404672	GTF2H5	ORPHA:33364
HP:0100533	Inflammatory abnormality of the eye	833	CARS1	ORPHA:33364
HP:0100533	Inflammatory abnormality of the eye	7737	RNF113A	ORPHA:33364
HP:0100533	Inflammatory abnormality of the eye	136647	MPLKIP	ORPHA:33364
HP:0100533	Inflammatory abnormality of the eye	6897	TARS1	ORPHA:33364
HP:0100533	Inflammatory abnormality of the eye	16	AARS1	ORPHA:33364
HP:0100533	Inflammatory abnormality of the eye	2961	GTF2E2	ORPHA:33364
HP:0100533	Inflammatory abnormality of the eye	2303	FOXC2	ORPHA:33001
HP:0100533	Inflammatory abnormality of the eye	2303	FOXC2	OMIM:153400
HP:0100533	Inflammatory abnormality of the eye	29110	TBK1	OMIM:620880
HP:0100533	Inflammatory abnormality of the eye	54809	SAMD9	OMIM:610455
HP:0100533	Inflammatory abnormality of the eye	5696	PSMB8	OMIM:256040
HP:0100533	Inflammatory abnormality of the eye	4067	LYN	OMIM:620376
HP:0100533	Inflammatory abnormality of the eye	3321	IGSF3	OMIM:149700
HP:0100533	Inflammatory abnormality of the eye	6929	TCF3	ORPHA:33110
HP:0100533	Inflammatory abnormality of the eye	7922	SLC39A7	ORPHA:33110
HP:0100533	Inflammatory abnormality of the eye	973	CD79A	ORPHA:33110
HP:0100533	Inflammatory abnormality of the eye	6688	SPI1	ORPHA:33110
HP:0100533	Inflammatory abnormality of the eye	3543	IGLL1	ORPHA:33110
HP:0100533	Inflammatory abnormality of the eye	29760	BLNK	ORPHA:33110
HP:0100533	Inflammatory abnormality of the eye	5295	PIK3R1	ORPHA:33110
HP:0100533	Inflammatory abnormality of the eye	56262	LRRC8A	ORPHA:33110
HP:0100533	Inflammatory abnormality of the eye	355	FAS	ORPHA:3261
HP:0100533	Inflammatory abnormality of the eye	355	FAS	ORPHA:3437
HP:0100533	Inflammatory abnormality of the eye	356	FASLG	ORPHA:3261
HP:0100533	Inflammatory abnormality of the eye	843	CASP10	ORPHA:3261
HP:0100533	Inflammatory abnormality of the eye	6775	STAT4	ORPHA:85410
HP:0100533	Inflammatory abnormality of the eye	6775	STAT4	ORPHA:85408
HP:0100533	Inflammatory abnormality of the eye	3560	IL2RB	ORPHA:85410
HP:0100533	Inflammatory abnormality of the eye	3560	IL2RB	ORPHA:85408
HP:0100533	Inflammatory abnormality of the eye	79722	ANKRD55	ORPHA:85410
HP:0100533	Inflammatory abnormality of the eye	79722	ANKRD55	ORPHA:85408
HP:0100533	Inflammatory abnormality of the eye	919	CD247	ORPHA:85410
HP:0100533	Inflammatory abnormality of the eye	919	CD247	ORPHA:85408
HP:0100533	Inflammatory abnormality of the eye	3559	IL2RA	ORPHA:85410
HP:0100533	Inflammatory abnormality of the eye	3559	IL2RA	ORPHA:85408
HP:0100533	Inflammatory abnormality of the eye	5771	PTPN2	ORPHA:85410
HP:0100533	Inflammatory abnormality of the eye	5771	PTPN2	ORPHA:85408
HP:0100533	Inflammatory abnormality of the eye	652	BMP4	ORPHA:828
HP:0100533	Inflammatory abnormality of the eye	331	XIAP	ORPHA:538934
HP:0100533	Inflammatory abnormality of the eye	726	CAPN5	OMIM:193235
HP:0100533	Inflammatory abnormality of the eye	130340	AP1S3	ORPHA:247353
HP:0100533	Inflammatory abnormality of the eye	26525	IL36RN	ORPHA:247353
HP:0100533	Inflammatory abnormality of the eye	939	CD27	OMIM:615122
HP:0100533	Inflammatory abnormality of the eye	22861	NLRP1	OMIM:617388
HP:0100533	Inflammatory abnormality of the eye	3662	IRF4	ORPHA:3452
HP:0100533	Inflammatory abnormality of the eye	220202	ATOH7	OMIM:221900
HP:0100533	Inflammatory abnormality of the eye	3123	HLA-DRB1	OMIM:181000
HP:0100533	Inflammatory abnormality of the eye	3123	HLA-DRB1	ORPHA:797
HP:0100533	Inflammatory abnormality of the eye	2859	GPR35	ORPHA:171
HP:0100533	Inflammatory abnormality of the eye	10507	SEMA4D	ORPHA:171
HP:0100533	Inflammatory abnormality of the eye	4485	MST1	ORPHA:171
HP:0100533	Inflammatory abnormality of the eye	6925	TCF4	ORPHA:171
HP:0100533	Inflammatory abnormality of the eye	56244	BTNL2	OMIM:612387
HP:0100533	Inflammatory abnormality of the eye	56244	BTNL2	ORPHA:797
HP:0100533	Inflammatory abnormality of the eye	641	BLM	ORPHA:125
HP:0100533	Inflammatory abnormality of the eye	2697	GJA1	OMIM:164200
HP:0100533	Inflammatory abnormality of the eye	84181	CHD6	ORPHA:2108
HP:0100533	Inflammatory abnormality of the eye	10273	STUB1	ORPHA:412057
HP:0100533	Inflammatory abnormality of the eye	2255	FGF10	ORPHA:2363
HP:0100533	Inflammatory abnormality of the eye	3141	HLCS	ORPHA:79242
HP:0100533	Inflammatory abnormality of the eye	326	AIRE	OMIM:240300
HP:0100533	Inflammatory abnormality of the eye	6335	SCN9A	OMIM:133020
HP:0100533	Inflammatory abnormality of the eye	2296	FOXC1	ORPHA:250923
HP:0100533	Inflammatory abnormality of the eye	54765	TRIM44	ORPHA:250923
HP:0100533	Inflammatory abnormality of the eye	55699	IARS2	OMIM:616007
HP:0100533	Inflammatory abnormality of the eye	1308	COL17A1	ORPHA:293381
HP:0100533	Inflammatory abnormality of the eye	29926	GMPPA	ORPHA:869
HP:0100533	Inflammatory abnormality of the eye	60684	TRAPPC11	ORPHA:869
HP:0100533	Inflammatory abnormality of the eye	8086	AAAS	ORPHA:869
HP:0100533	Inflammatory abnormality of the eye	2934	GSN	ORPHA:85448
HP:0100533	Inflammatory abnormality of the eye	4081	MAB21L1	OMIM:618479
HP:0100533	Inflammatory abnormality of the eye	4081	MAB21L1	ORPHA:495875
HP:0100533	Inflammatory abnormality of the eye	3930	LBR	ORPHA:779
HP:0100533	Inflammatory abnormality of the eye	54941	RNF125	OMIM:616260
HP:0100533	Inflammatory abnormality of the eye	5965	RECQL	OMIM:620370
HP:0100533	Inflammatory abnormality of the eye	4547	MTTP	ORPHA:14
HP:0100533	Inflammatory abnormality of the eye	7543	ZFX	OMIM:301118
HP:0100533	Inflammatory abnormality of the eye	4069	LYZ	OMIM:620658
HP:0100533	Inflammatory abnormality of the eye	2200	FBN1	OMIM:616914
HP:0100533	Inflammatory abnormality of the eye	165	AEBP1	ORPHA:536532
HP:0100533	Inflammatory abnormality of the eye	149233	IL23R	ORPHA:117
HP:0100533	Inflammatory abnormality of the eye	3586	IL10	ORPHA:117
HP:0100533	Inflammatory abnormality of the eye	4210	MEFV	ORPHA:117
HP:0100533	Inflammatory abnormality of the eye	1230	CCR1	ORPHA:117
HP:0100533	Inflammatory abnormality of the eye	3592	IL12A	ORPHA:117
HP:0100533	Inflammatory abnormality of the eye	101928376	IL12A-AS1	ORPHA:117
HP:0100533	Inflammatory abnormality of the eye	7099	TLR4	ORPHA:117
HP:0100533	Inflammatory abnormality of the eye	3459	IFNGR1	ORPHA:117
HP:0100533	Inflammatory abnormality of the eye	720	C4A	ORPHA:117
HP:0100533	Inflammatory abnormality of the eye	337867	UBAC2	ORPHA:117
HP:0100533	Inflammatory abnormality of the eye	51752	ERAP1	ORPHA:117
HP:0100533	Inflammatory abnormality of the eye	8302	KLRC4	ORPHA:117
HP:0100533	Inflammatory abnormality of the eye	4072	EPCAM	ORPHA:92050
HP:0100533	Inflammatory abnormality of the eye	105371045	PERCC1	ORPHA:92050
HP:0100533	Inflammatory abnormality of the eye	144811	LACC1	ORPHA:85414
HP:0100533	Inflammatory abnormality of the eye	4282	MIF	ORPHA:85414
HP:0100533	Inflammatory abnormality of the eye	3569	IL6	ORPHA:85414
HP:0100533	Inflammatory abnormality of the eye	7128	TNFAIP3	OMIM:616744
HP:0100533	Inflammatory abnormality of the eye	330	BIRC3	ORPHA:52417
HP:0100533	Inflammatory abnormality of the eye	10892	MALT1	ORPHA:52417
HP:0100533	Inflammatory abnormality of the eye	27086	FOXP1	ORPHA:52417
HP:0100533	Inflammatory abnormality of the eye	3492	IGH	ORPHA:52417
HP:0100533	Inflammatory abnormality of the eye	8915	BCL10	ORPHA:52417
HP:0100533	Inflammatory abnormality of the eye	2623	GATA1	ORPHA:79277
HP:0100533	Inflammatory abnormality of the eye	7389	UROD	ORPHA:95159
HP:0100533	Inflammatory abnormality of the eye	3105	HLA-A	ORPHA:179
HP:0100533	Inflammatory abnormality of the eye	2261	FGFR3	ORPHA:93262
HP:0100533	Inflammatory abnormality of the eye	8626	TP63	ORPHA:1896
HP:0100533	Inflammatory abnormality of the eye	114548	NLRP3	ORPHA:1451
HP:0100533	Inflammatory abnormality of the eye	224	ALDH3A2	ORPHA:816
HP:0100533	Inflammatory abnormality of the eye	1493	CTLA4	ORPHA:900
HP:0100533	Inflammatory abnormality of the eye	26191	PTPN22	ORPHA:900
HP:0100533	Inflammatory abnormality of the eye	3115	HLA-DPB1	ORPHA:900
HP:0100533	Inflammatory abnormality of the eye	5657	PRTN3	ORPHA:900
HP:0100533	Inflammatory abnormality of the eye	3113	HLA-DPA1	ORPHA:900
HP:0100533	Inflammatory abnormality of the eye	1776	DNASE1L3	ORPHA:36412
HP:0100533	Inflammatory abnormality of the eye	1536	CYBB	ORPHA:379
HP:0100533	Inflammatory abnormality of the eye	4688	NCF2	ORPHA:379
HP:0100533	Inflammatory abnormality of the eye	1535	CYBA	ORPHA:379
HP:0100533	Inflammatory abnormality of the eye	4689	NCF4	ORPHA:379
HP:0100533	Inflammatory abnormality of the eye	653361	NCF1	ORPHA:379
HP:0100533	Inflammatory abnormality of the eye	79415	CYBC1	ORPHA:379
HP:0100533	Inflammatory abnormality of the eye	8314	BAP1	ORPHA:39044
HP:0100533	Inflammatory abnormality of the eye	57105	CYSLTR2	ORPHA:39044
HP:0100533	Inflammatory abnormality of the eye	2776	GNAQ	ORPHA:39044
HP:0100533	Inflammatory abnormality of the eye	2767	GNA11	ORPHA:39044
HP:0100533	Inflammatory abnormality of the eye	23451	SF3B1	ORPHA:39044
HP:0100533	Inflammatory abnormality of the eye	55315	SLC29A3	OMIM:602782
HP:0007892	Hypoplasia of the lacrimal punctum	55012	PPP2R3C	OMIM:618419
HP:0007892	Hypoplasia of the lacrimal punctum	2263	FGFR2	OMIM:149730
HP:0007892	Hypoplasia of the lacrimal punctum	2263	FGFR2	ORPHA:2363
HP:0007892	Hypoplasia of the lacrimal punctum	2261	FGFR3	ORPHA:2363
HP:0007892	Hypoplasia of the lacrimal punctum	2255	FGF10	ORPHA:2363
HP:0001440	Metatarsal synostosis	1836	SLC26A2	ORPHA:93307
HP:0001440	Metatarsal synostosis	3239	HOXD13	ORPHA:93406
HP:0001440	Metatarsal synostosis	2192	FBLN1	OMIM:608180
HP:0001440	Metatarsal synostosis	2254	FGF9	OMIM:612961
HP:0001440	Metatarsal synostosis	6299	SALL1	OMIM:107480
HP:0001440	Metatarsal synostosis	64093	SMOC1	OMIM:206920
HP:0001440	Metatarsal synostosis	5447	POR	ORPHA:95699
HP:0001440	Metatarsal synostosis	51776	MAP3K20	ORPHA:488232
HP:0001441	Abnormality thigh musculature morphology	59341	TRPV4	OMIM:600175
HP:0001441	Abnormality thigh musculature morphology	65055	REEP1	ORPHA:101011
HP:0001441	Abnormality thigh musculature morphology	1778	DYNC1H1	OMIM:158600
HP:0001441	Abnormality thigh musculature morphology	80208	SPG11	OMIM:616668
HP:0001441	Abnormality thigh musculature morphology	203547	VMA21	OMIM:310440
HP:0001441	Abnormality thigh musculature morphology	6444	SGCD	ORPHA:219
HP:0001441	Abnormality thigh musculature morphology	4000	LMNA	ORPHA:98855
HP:0001441	Abnormality thigh musculature morphology	4000	LMNA	ORPHA:98856
HP:0001441	Abnormality thigh musculature morphology	4000	LMNA	ORPHA:98853
HP:0001441	Abnormality thigh musculature morphology	4747	NEFL	ORPHA:101085
HP:0001441	Abnormality thigh musculature morphology	9987	HNRNPDL	OMIM:609115
HP:0001441	Abnormality thigh musculature morphology	6606	SMN1	OMIM:253400
HP:0001441	Abnormality thigh musculature morphology	6607	SMN2	OMIM:253400
HP:0001441	Abnormality thigh musculature morphology	2273	FHL1	ORPHA:98863
HP:0001441	Abnormality thigh musculature morphology	2010	EMD	ORPHA:98863
HP:0001441	Abnormality thigh musculature morphology	79188	TMEM43	ORPHA:98853
HP:0001441	Abnormality thigh musculature morphology	23345	SYNE1	ORPHA:98853
HP:0001441	Abnormality thigh musculature morphology	23224	SYNE2	ORPHA:98853
HP:0001441	Abnormality thigh musculature morphology	122622	ADSS1	ORPHA:482601
HP:0001441	Abnormality thigh musculature morphology	203859	ANO5	OMIM:613319
HP:0001441	Abnormality thigh musculature morphology	203859	ANO5	OMIM:611307
HP:0001441	Abnormality thigh musculature morphology	203859	ANO5	ORPHA:206549
HP:0001441	Abnormality thigh musculature morphology	10558	SPTLC1	OMIM:620285
HP:0001441	Abnormality thigh musculature morphology	4010	LMX1B	OMIM:161200
HP:0001441	Abnormality thigh musculature morphology	6261	RYR1	ORPHA:597
HP:0001441	Abnormality thigh musculature morphology	6261	RYR1	ORPHA:424107
HP:0001441	Abnormality thigh musculature morphology	6261	RYR1	ORPHA:98905
HP:0001445	Abnormality of the hip-girdle musculature	22954	TRIM32	OMIM:254110
HP:0001445	Abnormality of the hip-girdle musculature	7415	VCP	OMIM:167320
HP:0001445	Abnormality of the hip-girdle musculature	6443	SGCB	OMIM:604286
HP:0001445	Abnormality of the hip-girdle musculature	4000	LMNA	ORPHA:98856
HP:0001445	Abnormality of the hip-girdle musculature	203859	ANO5	ORPHA:206549
HP:0001446	Abnormality of the musculature of the upper limbs	6138	RPL15	ORPHA:124
HP:0001446	Abnormality of the musculature of the upper limbs	6224	RPS20	ORPHA:124
HP:0001446	Abnormality of the musculature of the upper limbs	6165	RPL35A	ORPHA:124
HP:0001446	Abnormality of the musculature of the upper limbs	6132	RPL8	ORPHA:124
HP:0001446	Abnormality of the musculature of the upper limbs	6223	RPS19	ORPHA:124
HP:0001446	Abnormality of the musculature of the upper limbs	6232	RPS27	ORPHA:124
HP:0001446	Abnormality of the musculature of the upper limbs	55027	HEATR3	ORPHA:124
HP:0001446	Abnormality of the musculature of the upper limbs	6160	RPL31	ORPHA:124
HP:0001446	Abnormality of the musculature of the upper limbs	6201	RPS7	ORPHA:124
HP:0001446	Abnormality of the musculature of the upper limbs	6155	RPL27	ORPHA:124
HP:0001446	Abnormality of the musculature of the upper limbs	6234	RPS28	ORPHA:124
HP:0001446	Abnormality of the musculature of the upper limbs	6135	RPL11	ORPHA:124
HP:0001446	Abnormality of the musculature of the upper limbs	6229	RPS24	ORPHA:124
HP:0001446	Abnormality of the musculature of the upper limbs	6125	RPL5	ORPHA:124
HP:0001446	Abnormality of the musculature of the upper limbs	6204	RPS10	ORPHA:124
HP:0001446	Abnormality of the musculature of the upper limbs	2623	GATA1	ORPHA:124
HP:0001446	Abnormality of the musculature of the upper limbs	6133	RPL9	ORPHA:124
HP:0001446	Abnormality of the musculature of the upper limbs	6231	RPS26	ORPHA:124
HP:0001446	Abnormality of the musculature of the upper limbs	11224	RPL35	ORPHA:124
HP:0001446	Abnormality of the musculature of the upper limbs	6218	RPS17	ORPHA:124
HP:0001446	Abnormality of the musculature of the upper limbs	6154	RPL26	ORPHA:124
HP:0001446	Abnormality of the musculature of the upper limbs	6210	RPS15A	ORPHA:124
HP:0001446	Abnormality of the musculature of the upper limbs	90121	TSR2	ORPHA:124
HP:0001446	Abnormality of the musculature of the upper limbs	6141	RPL18	ORPHA:124
HP:0001446	Abnormality of the musculature of the upper limbs	6235	RPS29	ORPHA:124
HP:0001446	Abnormality of the musculature of the upper limbs	51816	ADA2	ORPHA:124
HP:0001446	Abnormality of the musculature of the upper limbs	6910	TBX5	OMIM:142900
HP:0001446	Abnormality of the musculature of the upper limbs	5889	RAD51C	OMIM:613390
HP:0001446	Abnormality of the musculature of the upper limbs	9775	EIF4A3	OMIM:268305
HP:0001446	Abnormality of the musculature of the upper limbs	23291	FBXW11	OMIM:618914
HP:0001446	Abnormality of the musculature of the upper limbs	2263	FGFR2	OMIM:149730
HP:0001446	Abnormality of the musculature of the upper limbs	3209	HOXA13	OMIM:140000
HP:0001446	Abnormality of the musculature of the upper limbs	121512	FGD4	OMIM:609311
HP:0001446	Abnormality of the musculature of the upper limbs	57104	PNPLA2	ORPHA:565612
HP:0001446	Abnormality of the musculature of the upper limbs	1756	DMD	ORPHA:206546
HP:0001446	Abnormality of the musculature of the upper limbs	6329	SCN4A	ORPHA:98913
HP:0001446	Abnormality of the musculature of the upper limbs	1134	CHRNA1	ORPHA:98913
HP:0001446	Abnormality of the musculature of the upper limbs	4038	LRP4	ORPHA:98913
HP:0001446	Abnormality of the musculature of the upper limbs	1305	COL13A1	ORPHA:98913
HP:0001446	Abnormality of the musculature of the upper limbs	1140	CHRNB1	ORPHA:98913
HP:0001446	Abnormality of the musculature of the upper limbs	1144	CHRND	ORPHA:98913
HP:0001446	Abnormality of the musculature of the upper limbs	1145	CHRNE	ORPHA:98913
HP:0001446	Abnormality of the musculature of the upper limbs	4593	MUSK	ORPHA:98913
HP:0001446	Abnormality of the musculature of the upper limbs	5913	RAPSN	ORPHA:98913
HP:0001446	Abnormality of the musculature of the upper limbs	375790	AGRN	ORPHA:98913
HP:0001446	Abnormality of the musculature of the upper limbs	221264	AK9	ORPHA:98913
HP:0001446	Abnormality of the musculature of the upper limbs	285489	DOK7	ORPHA:98913
HP:0001446	Abnormality of the musculature of the upper limbs	1311	COMP	OMIM:619161
HP:0001446	Abnormality of the musculature of the upper limbs	91252	SLC39A13	ORPHA:157965
HP:0001446	Abnormality of the musculature of the upper limbs	91252	SLC39A13	OMIM:612350
HP:0001446	Abnormality of the musculature of the upper limbs	8985	PLOD3	OMIM:612394
HP:0001446	Abnormality of the musculature of the upper limbs	8884	SLC5A6	OMIM:619903
HP:0001446	Abnormality of the musculature of the upper limbs	3710	ITPR3	OMIM:620111
HP:0001446	Abnormality of the musculature of the upper limbs	3425	IDUA	OMIM:607015
HP:0001446	Abnormality of the musculature of the upper limbs	9898	UBAP2L	OMIM:620494
HP:0001446	Abnormality of the musculature of the upper limbs	8729	GBF1	OMIM:606483
HP:0001446	Abnormality of the musculature of the upper limbs	291	SLC25A4	ORPHA:254892
HP:0001446	Abnormality of the musculature of the upper limbs	56652	TWNK	ORPHA:254892
HP:0001446	Abnormality of the musculature of the upper limbs	11232	POLG2	ORPHA:254892
HP:0001446	Abnormality of the musculature of the upper limbs	50484	RRM2B	ORPHA:254892
HP:0001446	Abnormality of the musculature of the upper limbs	7273	TTN	OMIM:603689
HP:0001446	Abnormality of the musculature of the upper limbs	1410	CRYAB	OMIM:608810
HP:0001446	Abnormality of the musculature of the upper limbs	79147	FKRP	OMIM:606612
HP:0001446	Abnormality of the musculature of the upper limbs	79147	FKRP	ORPHA:34515
HP:0001446	Abnormality of the musculature of the upper limbs	79147	FKRP	OMIM:607155
HP:0001446	Abnormality of the musculature of the upper limbs	2483	FRG1	OMIM:158900
HP:0001446	Abnormality of the musculature of the upper limbs	729359	PLIN4	OMIM:601846
HP:0001446	Abnormality of the musculature of the upper limbs	55791	LRIF1	OMIM:619477
HP:0001446	Abnormality of the musculature of the upper limbs	1763	DNA2	OMIM:615156
HP:0001446	Abnormality of the musculature of the upper limbs	51099	ABHD5	ORPHA:98907
HP:0001446	Abnormality of the musculature of the upper limbs	22954	TRIM32	OMIM:254110
HP:0001446	Abnormality of the musculature of the upper limbs	1073	CFL2	OMIM:610687
HP:0001446	Abnormality of the musculature of the upper limbs	4625	MYH7	OMIM:608358
HP:0001446	Abnormality of the musculature of the upper limbs	7138	TNNT1	OMIM:620389
HP:0001446	Abnormality of the musculature of the upper limbs	2581	GALC	ORPHA:206436
HP:0001446	Abnormality of the musculature of the upper limbs	5660	PSAP	ORPHA:206436
HP:0001446	Abnormality of the musculature of the upper limbs	4556	MT-TE	ORPHA:2596
HP:0001446	Abnormality of the musculature of the upper limbs	6606	SMN1	OMIM:253400
HP:0001446	Abnormality of the musculature of the upper limbs	6607	SMN2	OMIM:253400
HP:0001446	Abnormality of the musculature of the upper limbs	10020	GNE	ORPHA:602
HP:0001446	Abnormality of the musculature of the upper limbs	10049	DNAJB6	OMIM:603511
HP:0001446	Abnormality of the musculature of the upper limbs	9499	MYOT	ORPHA:266
HP:0001446	Abnormality of the musculature of the upper limbs	57190	SELENON	ORPHA:2020
HP:0001446	Abnormality of the musculature of the upper limbs	4633	MYL2	ORPHA:2020
HP:0001446	Abnormality of the musculature of the upper limbs	3679	ITGA7	ORPHA:2020
HP:0001446	Abnormality of the musculature of the upper limbs	7169	TPM2	ORPHA:2020
HP:0001446	Abnormality of the musculature of the upper limbs	9200	HACD1	ORPHA:2020
HP:0001446	Abnormality of the musculature of the upper limbs	7170	TPM3	ORPHA:2020
HP:0001446	Abnormality of the musculature of the upper limbs	51776	MAP3K20	ORPHA:2020
HP:0001446	Abnormality of the musculature of the upper limbs	1293	COL6A3	OMIM:620728
HP:0001446	Abnormality of the musculature of the upper limbs	23534	TNPO3	OMIM:608423
HP:0001446	Abnormality of the musculature of the upper limbs	9987	HNRNPDL	OMIM:609115
HP:0001446	Abnormality of the musculature of the upper limbs	10290	SPEG	ORPHA:169186
HP:0001446	Abnormality of the musculature of the upper limbs	79912	PYROXD1	OMIM:617258
HP:0001446	Abnormality of the musculature of the upper limbs	9820	CUL7	ORPHA:2616
HP:0001446	Abnormality of the musculature of the upper limbs	9820	CUL7	OMIM:273750
HP:0001446	Abnormality of the musculature of the upper limbs	23363	OBSL1	ORPHA:2616
HP:0001446	Abnormality of the musculature of the upper limbs	23363	OBSL1	OMIM:612921
HP:0001446	Abnormality of the musculature of the upper limbs	83987	CCDC8	ORPHA:2616
HP:0001446	Abnormality of the musculature of the upper limbs	253738	EBF3	ORPHA:96148
HP:0001446	Abnormality of the musculature of the upper limbs	825	CAPN3	OMIM:253600
HP:0001446	Abnormality of the musculature of the upper limbs	825	CAPN3	ORPHA:267
HP:0001446	Abnormality of the musculature of the upper limbs	825	CAPN3	OMIM:618129
HP:0001446	Abnormality of the musculature of the upper limbs	22947	DUX4L1	ORPHA:269
HP:0001446	Abnormality of the musculature of the upper limbs	1789	DNMT3B	ORPHA:269
HP:0001446	Abnormality of the musculature of the upper limbs	23347	SMCHD1	ORPHA:269
HP:0001446	Abnormality of the musculature of the upper limbs	23347	SMCHD1	OMIM:158901
HP:0001446	Abnormality of the musculature of the upper limbs	100288687	DUX4	ORPHA:269
HP:0001446	Abnormality of the musculature of the upper limbs	6442	SGCA	OMIM:608099
HP:0001446	Abnormality of the musculature of the upper limbs	6442	SGCA	ORPHA:62
HP:0001446	Abnormality of the musculature of the upper limbs	55790	CSGALNACT1	OMIM:618870
HP:0001446	Abnormality of the musculature of the upper limbs	6443	SGCB	OMIM:604286
HP:0001446	Abnormality of the musculature of the upper limbs	6263	RYR3	OMIM:620310
HP:0001446	Abnormality of the musculature of the upper limbs	25778	DSTYK	OMIM:270750
HP:0001446	Abnormality of the musculature of the upper limbs	2673	GFPT1	ORPHA:353327
HP:0001446	Abnormality of the musculature of the upper limbs	1798	DPAGT1	ORPHA:353327
HP:0001446	Abnormality of the musculature of the upper limbs	85365	ALG2	ORPHA:353327
HP:0001446	Abnormality of the musculature of the upper limbs	85365	ALG2	OMIM:616228
HP:0001446	Abnormality of the musculature of the upper limbs	199857	ALG14	ORPHA:353327
HP:0001446	Abnormality of the musculature of the upper limbs	10059	DNM1L	ORPHA:98673
HP:0001446	Abnormality of the musculature of the upper limbs	4976	OPA1	ORPHA:98673
HP:0001446	Abnormality of the musculature of the upper limbs	6444	SGCD	OMIM:601287
HP:0001446	Abnormality of the musculature of the upper limbs	6444	SGCD	ORPHA:219
HP:0001446	Abnormality of the musculature of the upper limbs	55870	ASH1L	OMIM:617796
HP:0001446	Abnormality of the musculature of the upper limbs	8878	SQSTM1	OMIM:617158
HP:0001446	Abnormality of the musculature of the upper limbs	4604	MYBPC1	OMIM:618524
HP:0001446	Abnormality of the musculature of the upper limbs	2138	EYA1	ORPHA:2792
HP:0001446	Abnormality of the musculature of the upper limbs	2138	EYA1	OMIM:166780
HP:0001446	Abnormality of the musculature of the upper limbs	5075	PAX1	ORPHA:2792
HP:0001446	Abnormality of the musculature of the upper limbs	5075	PAX1	OMIM:615560
HP:0001446	Abnormality of the musculature of the upper limbs	3759	KCNJ2	OMIM:170390
HP:0001446	Abnormality of the musculature of the upper limbs	10558	SPTLC1	OMIM:620285
HP:0001446	Abnormality of the musculature of the upper limbs	4620	MYH2	OMIM:605637
HP:0001446	Abnormality of the musculature of the upper limbs	80324	PUS1	OMIM:600462
HP:0001446	Abnormality of the musculature of the upper limbs	1303	COL12A1	OMIM:616471
HP:0001446	Abnormality of the musculature of the upper limbs	1303	COL12A1	ORPHA:610
HP:0001446	Abnormality of the musculature of the upper limbs	83636	C19orf12	OMIM:614298
HP:0001446	Abnormality of the musculature of the upper limbs	23545	ATP6V0A2	OMIM:278250
HP:0001446	Abnormality of the musculature of the upper limbs	200734	SPRED2	OMIM:619745
HP:0001446	Abnormality of the musculature of the upper limbs	9531	BAG3	OMIM:612954
HP:0001446	Abnormality of the musculature of the upper limbs	2200	FBN1	OMIM:616914
HP:0001446	Abnormality of the musculature of the upper limbs	6445	SGCG	ORPHA:353
HP:0001446	Abnormality of the musculature of the upper limbs	84665	MYPN	OMIM:617336
HP:0001446	Abnormality of the musculature of the upper limbs	84665	MYPN	ORPHA:171439
HP:0001446	Abnormality of the musculature of the upper limbs	5781	PTPN11	ORPHA:500
HP:0001446	Abnormality of the musculature of the upper limbs	5781	PTPN11	OMIM:151100
HP:0001446	Abnormality of the musculature of the upper limbs	673	BRAF	ORPHA:500
HP:0001446	Abnormality of the musculature of the upper limbs	5894	RAF1	ORPHA:500
HP:0001446	Abnormality of the musculature of the upper limbs	7204	TRIO	OMIM:617061
HP:0001446	Abnormality of the musculature of the upper limbs	10220	GDF11	OMIM:619122
HP:0001446	Abnormality of the musculature of the upper limbs	163175	LGI4	OMIM:617468
HP:0001446	Abnormality of the musculature of the upper limbs	1291	COL6A1	ORPHA:610
HP:0001446	Abnormality of the musculature of the upper limbs	1292	COL6A2	ORPHA:610
HP:0001446	Abnormality of the musculature of the upper limbs	11117	EMILIN1	OMIM:620080
HP:0001446	Abnormality of the musculature of the upper limbs	2318	FLNC	ORPHA:171445
HP:0001446	Abnormality of the musculature of the upper limbs	56983	POGLUT1	OMIM:617232
HP:0001446	Abnormality of the musculature of the upper limbs	57479	PRR12	OMIM:619539
HP:0001446	Abnormality of the musculature of the upper limbs	390594	KBTBD13	ORPHA:171439
HP:0001446	Abnormality of the musculature of the upper limbs	10324	KLHL41	ORPHA:171439
HP:0001446	Abnormality of the musculature of the upper limbs	2317	FLNB	OMIM:272460
HP:0001446	Abnormality of the musculature of the upper limbs	29954	POMT2	ORPHA:206559
HP:0001446	Abnormality of the musculature of the upper limbs	7043	TGFB3	OMIM:615582
HP:0001446	Abnormality of the musculature of the upper limbs	7227	TRPS1	OMIM:190350
HP:0001446	Abnormality of the musculature of the upper limbs	27145	FILIP1	OMIM:620775
HP:0001446	Abnormality of the musculature of the upper limbs	257	ALX3	OMIM:136760
HP:0001446	Abnormality of the musculature of the upper limbs	8092	ALX1	ORPHA:306542
HP:0001446	Abnormality of the musculature of the upper limbs	284058	KANSL1	OMIM:610443
HP:0001446	Abnormality of the musculature of the upper limbs	2316	FLNA	ORPHA:1826
HP:0001446	Abnormality of the musculature of the upper limbs	6885	MAP3K7	ORPHA:1826
HP:0001446	Abnormality of the musculature of the upper limbs	59345	GNB4	OMIM:615185
HP:0001446	Abnormality of the musculature of the upper limbs	7143	TNR	OMIM:619653
HP:0001446	Abnormality of the musculature of the upper limbs	10516	FBLN5	OMIM:619764
HP:0001446	Abnormality of the musculature of the upper limbs	65250	CPLANE1	ORPHA:65684
HP:0001446	Abnormality of the musculature of the upper limbs	57562	CEP126	ORPHA:65684
HP:0001446	Abnormality of the musculature of the upper limbs	64423	INF2	OMIM:614455
HP:0001446	Abnormality of the musculature of the upper limbs	7453	WARS1	OMIM:617721
HP:0001446	Abnormality of the musculature of the upper limbs	7072	TIA1	ORPHA:603
HP:0001446	Abnormality of the musculature of the upper limbs	79903	NAA60	OMIM:620786
HP:0001446	Abnormality of the musculature of the upper limbs	9939	RBM8A	OMIM:274000
HP:0001446	Abnormality of the musculature of the upper limbs	55768	NGLY1	OMIM:615273
HP:0001446	Abnormality of the musculature of the upper limbs	23321	TRIM2	OMIM:615490
HP:0001446	Abnormality of the musculature of the upper limbs	374969	SVBP	OMIM:618569
HP:0001446	Abnormality of the musculature of the upper limbs	1678	TIMM8A	OMIM:304700
HP:0001446	Abnormality of the musculature of the upper limbs	547	KIF1A	OMIM:614213
HP:0001446	Abnormality of the musculature of the upper limbs	57716	PRX	OMIM:614895
HP:0001446	Abnormality of the musculature of the upper limbs	4359	MPZ	ORPHA:3115
HP:0001446	Abnormality of the musculature of the upper limbs	54332	GDAP1	OMIM:607706
HP:0001446	Abnormality of the musculature of the upper limbs	54332	GDAP1	ORPHA:101097
HP:0001446	Abnormality of the musculature of the upper limbs	339855	KY	ORPHA:496689
HP:0001446	Abnormality of the musculature of the upper limbs	203859	ANO5	ORPHA:399096
HP:0001446	Abnormality of the musculature of the upper limbs	203859	ANO5	ORPHA:206549
HP:0001446	Abnormality of the musculature of the upper limbs	7415	VCP	ORPHA:435387
HP:0001446	Abnormality of the musculature of the upper limbs	7415	VCP	OMIM:616687
HP:0001446	Abnormality of the musculature of the upper limbs	7415	VCP	OMIM:613954
HP:0001446	Abnormality of the musculature of the upper limbs	59341	TRPV4	OMIM:606071
HP:0001446	Abnormality of the musculature of the upper limbs	3991	LIPE	ORPHA:435660
HP:0001446	Abnormality of the musculature of the upper limbs	400916	CHCHD10	ORPHA:457050
HP:0001446	Abnormality of the musculature of the upper limbs	400916	CHCHD10	ORPHA:276435
HP:0001446	Abnormality of the musculature of the upper limbs	64856	VWA1	OMIM:619216
HP:0001446	Abnormality of the musculature of the upper limbs	311	ANXA11	OMIM:619733
HP:0001446	Abnormality of the musculature of the upper limbs	80208	SPG11	OMIM:616668
HP:0001446	Abnormality of the musculature of the upper limbs	10229	COQ7	OMIM:620402
HP:0001446	Abnormality of the musculature of the upper limbs	81846	SBF2	ORPHA:99956
HP:0001446	Abnormality of the musculature of the upper limbs	9990	SLC12A6	OMIM:620068
HP:0001446	Abnormality of the musculature of the upper limbs	274	BIN1	ORPHA:169189
HP:0001446	Abnormality of the musculature of the upper limbs	64419	MTMR14	ORPHA:169189
HP:0001446	Abnormality of the musculature of the upper limbs	64419	MTMR14	OMIM:160150
HP:0001446	Abnormality of the musculature of the upper limbs	4618	MYF6	ORPHA:169189
HP:0001446	Abnormality of the musculature of the upper limbs	1785	DNM2	ORPHA:169189
HP:0001446	Abnormality of the musculature of the upper limbs	1785	DNM2	OMIM:160150
HP:0001446	Abnormality of the musculature of the upper limbs	6261	RYR1	ORPHA:169189
HP:0001446	Abnormality of the musculature of the upper limbs	2273	FHL1	ORPHA:98863
HP:0001446	Abnormality of the musculature of the upper limbs	2010	EMD	ORPHA:98863
HP:0001446	Abnormality of the musculature of the upper limbs	4000	LMNA	OMIM:181350
HP:0001446	Abnormality of the musculature of the upper limbs	4000	LMNA	ORPHA:98855
HP:0001446	Abnormality of the musculature of the upper limbs	4000	LMNA	ORPHA:98853
HP:0001446	Abnormality of the musculature of the upper limbs	8291	DYSF	ORPHA:268
HP:0001446	Abnormality of the musculature of the upper limbs	23676	SMPX	OMIM:301075
HP:0001446	Abnormality of the musculature of the upper limbs	29925	GMPPB	ORPHA:363623
HP:0001446	Abnormality of the musculature of the upper limbs	8557	TCAP	OMIM:601954
HP:0001446	Abnormality of the musculature of the upper limbs	3714	JAG2	OMIM:619566
HP:0001446	Abnormality of the musculature of the upper limbs	22880	MORC2	ORPHA:466768
HP:0001446	Abnormality of the musculature of the upper limbs	3908	LAMA2	OMIM:618138
HP:0001446	Abnormality of the musculature of the upper limbs	1371	CPOX	ORPHA:79273
HP:0001446	Abnormality of the musculature of the upper limbs	84033	OBSCN	ORPHA:99845
HP:0001446	Abnormality of the musculature of the upper limbs	23175	LPIN1	ORPHA:99845
HP:0001446	Abnormality of the musculature of the upper limbs	4512	MT-CO1	ORPHA:99845
HP:0001446	Abnormality of the musculature of the upper limbs	4514	MT-CO3	ORPHA:99845
HP:0001446	Abnormality of the musculature of the upper limbs	5498	PPOX	ORPHA:79473
HP:0001446	Abnormality of the musculature of the upper limbs	3145	HMBS	ORPHA:79276
HP:0001446	Abnormality of the musculature of the upper limbs	4747	NEFL	ORPHA:101085
HP:0001446	Abnormality of the musculature of the upper limbs	3156	HMGCR	OMIM:620375
HP:0001446	Abnormality of the musculature of the upper limbs	11155	LDB3	ORPHA:98912
HP:0001446	Abnormality of the musculature of the upper limbs	10073	SNUPN	OMIM:620793
HP:0001446	Abnormality of the musculature of the upper limbs	729920	CRPPA	ORPHA:352479
HP:0001446	Abnormality of the musculature of the upper limbs	353116	RILPL1	ORPHA:98897
HP:0001446	Abnormality of the musculature of the upper limbs	10755	GIPC1	ORPHA:98897
HP:0001446	Abnormality of the musculature of the upper limbs	29967	LRP12	ORPHA:98897
HP:0001446	Abnormality of the musculature of the upper limbs	100996717	NOTCH2NLC	ORPHA:98897
HP:0001446	Abnormality of the musculature of the upper limbs	79188	TMEM43	ORPHA:98853
HP:0001446	Abnormality of the musculature of the upper limbs	23345	SYNE1	ORPHA:98853
HP:0001446	Abnormality of the musculature of the upper limbs	23224	SYNE2	ORPHA:98853
HP:0001446	Abnormality of the musculature of the upper limbs	389827	MYMK	OMIM:254940
HP:0001446	Abnormality of the musculature of the upper limbs	55958	KLHL9	ORPHA:399081
HP:0001446	Abnormality of the musculature of the upper limbs	3094	HINT1	ORPHA:324442
HP:0001446	Abnormality of the musculature of the upper limbs	10280	SIGMAR1	OMIM:614373
HP:0001446	Abnormality of the musculature of the upper limbs	81545	FBXO38	OMIM:615575
HP:0001446	Abnormality of the musculature of the upper limbs	57863	CADM3	OMIM:619519
HP:0001446	Abnormality of the musculature of the upper limbs	4358	MPV17	OMIM:256810
HP:0001446	Abnormality of the musculature of the upper limbs	4703	NEB	ORPHA:399103
HP:0001446	Abnormality of the musculature of the upper limbs	859	CAV3	ORPHA:488650
HP:0001446	Abnormality of the musculature of the upper limbs	4151	MB	OMIM:620286
HP:0001446	Abnormality of the musculature of the upper limbs	6786	STIM1	OMIM:160565
HP:0001446	Abnormality of the musculature of the upper limbs	57167	SALL4	OMIM:607323
HP:0001446	Abnormality of the musculature of the upper limbs	2218	FKTN	OMIM:611588
HP:0001446	Abnormality of the musculature of the upper limbs	2617	GARS1	OMIM:600794
HP:0001446	Abnormality of the musculature of the upper limbs	2617	GARS1	OMIM:601472
HP:0001446	Abnormality of the musculature of the upper limbs	10397	NDRG1	ORPHA:99950
HP:0001446	Abnormality of the musculature of the upper limbs	9420	CYP7B1	OMIM:270800
HP:0001446	Abnormality of the musculature of the upper limbs	9420	CYP7B1	ORPHA:100986
HP:0001446	Abnormality of the musculature of the upper limbs	3798	KIF5A	ORPHA:100991
HP:0001446	Abnormality of the musculature of the upper limbs	9927	MFN2	OMIM:617087
HP:0001446	Abnormality of the musculature of the upper limbs	6709	SPTAN1	OMIM:620528
HP:0001446	Abnormality of the musculature of the upper limbs	7994	KAT6A	OMIM:616268
HP:0001446	Abnormality of the musculature of the upper limbs	10801	SEPTIN9	ORPHA:2901
HP:0001446	Abnormality of the musculature of the upper limbs	4744	NEFH	OMIM:616924
HP:0001446	Abnormality of the musculature of the upper limbs	122622	ADSS1	ORPHA:482601
HP:0001446	Abnormality of the musculature of the upper limbs	3315	HSPB1	OMIM:606595
HP:0001446	Abnormality of the musculature of the upper limbs	3315	HSPB1	ORPHA:99940
HP:0001446	Abnormality of the musculature of the upper limbs	5077	PAX3	OMIM:148820
HP:0001446	Abnormality of the musculature of the upper limbs	3098	HK1	ORPHA:99953
HP:0001446	Abnormality of the musculature of the upper limbs	4141	MARS1	OMIM:616280
HP:0001446	Abnormality of the musculature of the upper limbs	26580	BSCL2	ORPHA:100998
HP:0001446	Abnormality of the musculature of the upper limbs	57679	ALS2	OMIM:205100
HP:0001446	Abnormality of the musculature of the upper limbs	58	ACTA1	OMIM:616852
HP:0001446	Abnormality of the musculature of the upper limbs	10342	TFG	OMIM:615658
HP:0001446	Abnormality of the musculature of the upper limbs	5376	PMP22	ORPHA:90658
HP:0001446	Abnormality of the musculature of the upper limbs	89874	SLC25A21	OMIM:618811
HP:0001446	Abnormality of the musculature of the upper limbs	170689	ADAMTS15	OMIM:620545
HP:0001446	Abnormality of the musculature of the upper limbs	1639	DCTN1	OMIM:607641
HP:0001446	Abnormality of the musculature of the upper limbs	113278	SLC52A3	OMIM:211530
HP:0001446	Abnormality of the musculature of the upper limbs	2395	FXN	ORPHA:95
HP:0001446	Abnormality of the musculature of the upper limbs	5980	REV3L	ORPHA:570
HP:0001446	Abnormality of the musculature of the upper limbs	23129	PLXND1	ORPHA:570
HP:0001446	Abnormality of the musculature of the upper limbs	3708	ITPR1	OMIM:206700
HP:0001446	Abnormality of the musculature of the upper limbs	6926	TBX3	ORPHA:3138
HP:0001446	Abnormality of the musculature of the upper limbs	101929726	MYMX	ORPHA:1358
HP:0001446	Abnormality of the musculature of the upper limbs	4010	LMX1B	OMIM:161200
HP:0001446	Abnormality of the musculature of the upper limbs	29926	GMPPA	ORPHA:869
HP:0001446	Abnormality of the musculature of the upper limbs	60684	TRAPPC11	ORPHA:869
HP:0001446	Abnormality of the musculature of the upper limbs	8086	AAAS	ORPHA:869
HP:0001446	Abnormality of the musculature of the upper limbs	23299	BICD2	ORPHA:363454
HP:0001446	Abnormality of the musculature of the upper limbs	65055	REEP1	ORPHA:101011
HP:0001446	Abnormality of the musculature of the upper limbs	8988	HSPB3	OMIM:613376
HP:0001446	Abnormality of the musculature of the upper limbs	9782	MATR3	OMIM:606070
HP:0001446	Abnormality of the musculature of the upper limbs	5165	PDK3	OMIM:300905
HP:0001446	Abnormality of the musculature of the upper limbs	7084	TK2	ORPHA:254886
HP:0001446	Abnormality of the musculature of the upper limbs	5428	POLG	ORPHA:254886
HP:0001446	Abnormality of the musculature of the upper limbs	2705	GJB1	OMIM:302800
HP:0001446	Abnormality of the musculature of the upper limbs	2992	GYG1	OMIM:616199
HP:0001446	Abnormality of the musculature of the upper limbs	3035	HARS1	ORPHA:488333
HP:0001446	Abnormality of the musculature of the upper limbs	8292	COLQ	ORPHA:98915
HP:0001446	Abnormality of the musculature of the upper limbs	3913	LAMB2	ORPHA:98915
HP:0001446	Abnormality of the musculature of the upper limbs	8565	YARS1	OMIM:608323
HP:0001446	Abnormality of the musculature of the upper limbs	10585	POMT1	ORPHA:86812
HP:0001446	Abnormality of the musculature of the upper limbs	182	JAG1	OMIM:619574
HP:0001446	Abnormality of the musculature of the upper limbs	5339	PLEC	ORPHA:254361
HP:0001446	Abnormality of the musculature of the upper limbs	283989	TSEN54	ORPHA:2524
HP:0001446	Abnormality of the musculature of the upper limbs	116461	TSEN15	ORPHA:2524
HP:0001446	Abnormality of the musculature of the upper limbs	79042	TSEN34	ORPHA:2524
HP:0001446	Abnormality of the musculature of the upper limbs	80746	TSEN2	ORPHA:2524
HP:0001446	Abnormality of the musculature of the upper limbs	51091	SEPSECS	ORPHA:2524
HP:0001446	Abnormality of the musculature of the upper limbs	55149	MTPAP	OMIM:613672
HP:0001446	Abnormality of the musculature of the upper limbs	55149	MTPAP	ORPHA:254343
HP:0001446	Abnormality of the musculature of the upper limbs	9997	SCO2	OMIM:604377
HP:0001446	Abnormality of the musculature of the upper limbs	6687	SPG7	OMIM:607259
HP:0001446	Abnormality of the musculature of the upper limbs	137492	VPS37A	ORPHA:319199
HP:0001446	Abnormality of the musculature of the upper limbs	137492	VPS37A	OMIM:614898
HP:0001446	Abnormality of the musculature of the upper limbs	5010	CLDN11	OMIM:619328
HP:0008003	Jerky ocular pursuit movements	16	AARS1	OMIM:619691
HP:0008003	Jerky ocular pursuit movements	146057	TTBK2	OMIM:604432
HP:0008003	Jerky ocular pursuit movements	146057	TTBK2	ORPHA:98767
HP:0008003	Jerky ocular pursuit movements	3748	KCNC3	OMIM:605259
HP:0008003	Jerky ocular pursuit movements	3748	KCNC3	ORPHA:98768
HP:0008003	Jerky ocular pursuit movements	23646	PLD3	OMIM:617770
HP:0008003	Jerky ocular pursuit movements	5621	PRNP	ORPHA:157941
HP:0008003	Jerky ocular pursuit movements	6712	SPTBN2	OMIM:615386
HP:0008003	Jerky ocular pursuit movements	6712	SPTBN2	ORPHA:352403
HP:0008003	Jerky ocular pursuit movements	54834	GDAP2	OMIM:618369
HP:0008003	Jerky ocular pursuit movements	57704	GBA2	ORPHA:320391
HP:0008003	Jerky ocular pursuit movements	57704	GBA2	OMIM:614409
HP:0008003	Jerky ocular pursuit movements	23345	SYNE1	OMIM:610743
HP:0007898	Exudative retinopathy	4041	LRP5	ORPHA:2788
HP:0007898	Exudative retinopathy	4041	LRP5	OMIM:259770
HP:0007898	Exudative retinopathy	80169	CTC1	OMIM:612199
HP:0007898	Exudative retinopathy	4149	MAX	OMIM:620712
HP:0007898	Exudative retinopathy	26277	TINF2	OMIM:268130
HP:0007898	Exudative retinopathy	26277	TINF2	OMIM:613990
HP:0007898	Exudative retinopathy	22947	DUX4L1	ORPHA:269
HP:0007898	Exudative retinopathy	1789	DNMT3B	ORPHA:269
HP:0007898	Exudative retinopathy	2483	FRG1	ORPHA:269
HP:0007898	Exudative retinopathy	23347	SMCHD1	ORPHA:269
HP:0007898	Exudative retinopathy	100288687	DUX4	ORPHA:269
HP:0007899	Retinal nonattachment	220202	ATOH7	OMIM:221900
HP:0007899	Retinal nonattachment	5961	PRPH2	ORPHA:99000
HP:0007899	Retinal nonattachment	7439	BEST1	ORPHA:99000
HP:0007899	Retinal nonattachment	50939	IMPG2	ORPHA:99000
HP:0007899	Retinal nonattachment	3617	IMPG1	ORPHA:99000
HP:0007899	Retinal nonattachment	207	AKT1	ORPHA:744
HP:0007880	Marginal corneal dystrophy	285440	CYP4V2	OMIM:210370
HP:0007881	Central corneal dystrophy	7045	TGFBI	ORPHA:98960
HP:0007881	Central corneal dystrophy	7045	TGFBI	ORPHA:98962
HP:0007885	Slowed horizontal saccades	2629	GBA1	OMIM:231005
HP:0007885	Slowed horizontal saccades	2629	GBA1	ORPHA:77261
HP:0007885	Slowed horizontal saccades	3708	ITPR1	OMIM:117360
HP:0007885	Slowed horizontal saccades	4137	MAPT	ORPHA:240103
HP:0007889	Iridescent posterior subcapsular cataract	7555	CNBP	OMIM:602668
HP:0001450	Y-linked inheritance	9082	XKRY	OMIM:415000
HP:0001450	Y-linked inheritance	9084	VCY	OMIM:415000
HP:0001450	Y-linked inheritance	8287	USP9Y	OMIM:415000
HP:0001450	Y-linked inheritance	5940	RBMY1A1	OMIM:415000
HP:0001450	Y-linked inheritance	8653	DDX3Y	OMIM:415000
HP:0001450	Y-linked inheritance	86614	HSFY1	OMIM:415000
HP:0001450	Y-linked inheritance	9426	CDY2A	OMIM:415000
HP:0001450	Y-linked inheritance	9085	CDY1	OMIM:415000
HP:0001450	Y-linked inheritance	1617	DAZ1	OMIM:415000
HP:0001450	Y-linked inheritance	442862	PRY2	OMIM:415000
HP:0001450	Y-linked inheritance	9081	PRY	OMIM:415000
HP:0001450	Y-linked inheritance	9083	BPY2	OMIM:415000
HP:0001450	Y-linked inheritance	57054	DAZ3	OMIM:415000
HP:0001450	Y-linked inheritance	140032	RPS4Y2	OMIM:415000
HP:0001450	Y-linked inheritance	8284	KDM5D	OMIM:415000
HP:0001450	Y-linked inheritance	57055	DAZ2	OMIM:415000
HP:0001450	Y-linked inheritance	6736	SRY	OMIM:400044
HP:0001450	Y-linked inheritance	90665	TBL1Y	OMIM:400047
HP:0001454	Abnormality of the upper arm	59341	TRPV4	OMIM:606071
HP:0001454	Abnormality of the upper arm	22880	MORC2	ORPHA:466768
HP:0001454	Abnormality of the upper arm	64419	MTMR14	OMIM:160150
HP:0001454	Abnormality of the upper arm	1785	DNM2	OMIM:160150
HP:0001454	Abnormality of the upper arm	79903	NAA60	OMIM:620786
HP:0001454	Abnormality of the upper arm	4000	LMNA	OMIM:613205
HP:0001454	Abnormality of the upper arm	4000	LMNA	ORPHA:98855
HP:0001454	Abnormality of the upper arm	4000	LMNA	ORPHA:98853
HP:0001454	Abnormality of the upper arm	6444	SGCD	ORPHA:219
HP:0001454	Abnormality of the upper arm	8557	TCAP	OMIM:601954
HP:0001454	Abnormality of the upper arm	9987	HNRNPDL	OMIM:609115
HP:0001454	Abnormality of the upper arm	2273	FHL1	ORPHA:98863
HP:0001454	Abnormality of the upper arm	2010	EMD	ORPHA:98863
HP:0001454	Abnormality of the upper arm	79188	TMEM43	ORPHA:98853
HP:0001454	Abnormality of the upper arm	23345	SYNE1	ORPHA:98853
HP:0001454	Abnormality of the upper arm	23224	SYNE2	ORPHA:98853
HP:0001454	Abnormality of the upper arm	4010	LMX1B	OMIM:161200
HP:0001457	Abnormality of the musculature of the upper arm	59341	TRPV4	OMIM:606071
HP:0001457	Abnormality of the musculature of the upper arm	22880	MORC2	ORPHA:466768
HP:0001457	Abnormality of the musculature of the upper arm	64419	MTMR14	OMIM:160150
HP:0001457	Abnormality of the musculature of the upper arm	1785	DNM2	OMIM:160150
HP:0001457	Abnormality of the musculature of the upper arm	79903	NAA60	OMIM:620786
HP:0001457	Abnormality of the musculature of the upper arm	4000	LMNA	OMIM:613205
HP:0001457	Abnormality of the musculature of the upper arm	4000	LMNA	ORPHA:98855
HP:0001457	Abnormality of the musculature of the upper arm	4000	LMNA	ORPHA:98853
HP:0001457	Abnormality of the musculature of the upper arm	6444	SGCD	ORPHA:219
HP:0001457	Abnormality of the musculature of the upper arm	8557	TCAP	OMIM:601954
HP:0001457	Abnormality of the musculature of the upper arm	9987	HNRNPDL	OMIM:609115
HP:0001457	Abnormality of the musculature of the upper arm	2273	FHL1	ORPHA:98863
HP:0001457	Abnormality of the musculature of the upper arm	2010	EMD	ORPHA:98863
HP:0001457	Abnormality of the musculature of the upper arm	79188	TMEM43	ORPHA:98853
HP:0001457	Abnormality of the musculature of the upper arm	23345	SYNE1	ORPHA:98853
HP:0001457	Abnormality of the musculature of the upper arm	23224	SYNE2	ORPHA:98853
HP:0001457	Abnormality of the musculature of the upper arm	4010	LMX1B	OMIM:161200
HP:0001459	1-3 toe syndactyly	2737	GLI3	OMIM:175700
HP:0007872	Choroidal hemangioma	2776	GNAQ	OMIM:185300
HP:0007872	Choroidal hemangioma	2776	GNAQ	ORPHA:3205
HP:0007872	Choroidal hemangioma	11235	PDCD10	ORPHA:221061
HP:0007872	Choroidal hemangioma	5290	PIK3CA	ORPHA:221061
HP:0007872	Choroidal hemangioma	83605	CCM2	ORPHA:221061
HP:0007872	Choroidal hemangioma	889	KRIT1	ORPHA:221061
HP:0007873	Abnormally prominent line of Schwalbe	5308	PITX2	OMIM:180500
HP:0007874	Almond-shaped palpebral fissure	22827	PUF60	ORPHA:508498
HP:0007874	Almond-shaped palpebral fissure	6638	SNRPN	ORPHA:177904
HP:0007874	Almond-shaped palpebral fissure	6638	SNRPN	ORPHA:177901
HP:0007874	Almond-shaped palpebral fissure	6638	SNRPN	ORPHA:177907
HP:0007874	Almond-shaped palpebral fissure	6638	SNRPN	ORPHA:98754
HP:0007874	Almond-shaped palpebral fissure	4692	NDN	ORPHA:177904
HP:0007874	Almond-shaped palpebral fissure	4692	NDN	ORPHA:177901
HP:0007874	Almond-shaped palpebral fissure	4692	NDN	ORPHA:98754
HP:0007874	Almond-shaped palpebral fissure	54551	MAGEL2	ORPHA:177904
HP:0007874	Almond-shaped palpebral fissure	54551	MAGEL2	ORPHA:177901
HP:0007874	Almond-shaped palpebral fissure	54551	MAGEL2	ORPHA:398069
HP:0007874	Almond-shaped palpebral fissure	54551	MAGEL2	OMIM:176270
HP:0007874	Almond-shaped palpebral fissure	54551	MAGEL2	ORPHA:98754
HP:0007874	Almond-shaped palpebral fissure	4948	OCA2	ORPHA:177904
HP:0007874	Almond-shaped palpebral fissure	4948	OCA2	ORPHA:177901
HP:0007874	Almond-shaped palpebral fissure	4948	OCA2	ORPHA:98754
HP:0007874	Almond-shaped palpebral fissure	56992	KIF15	ORPHA:261323
HP:0007874	Almond-shaped palpebral fissure	50814	NSDHL	OMIM:300831
HP:0007874	Almond-shaped palpebral fissure	50814	NSDHL	ORPHA:251383
HP:0007874	Almond-shaped palpebral fissure	57003	CCDC47	OMIM:618268
HP:0007874	Almond-shaped palpebral fissure	1182	CLCN3	OMIM:619512
HP:0007874	Almond-shaped palpebral fissure	9698	PUM1	OMIM:620719
HP:0007874	Almond-shaped palpebral fissure	7468	NSD2	OMIM:619695
HP:0007874	Almond-shaped palpebral fissure	79903	NAA60	OMIM:620786
HP:0007874	Almond-shaped palpebral fissure	672	BRCA1	ORPHA:84
HP:0007874	Almond-shaped palpebral fissure	10459	MAD2L2	ORPHA:84
HP:0007874	Almond-shaped palpebral fissure	7516	XRCC2	ORPHA:84
HP:0007874	Almond-shaped palpebral fissure	29089	UBE2T	ORPHA:84
HP:0007874	Almond-shaped palpebral fissure	675	BRCA2	ORPHA:84
HP:0007874	Almond-shaped palpebral fissure	55120	FANCL	ORPHA:84
HP:0007874	Almond-shaped palpebral fissure	2177	FANCD2	ORPHA:84
HP:0007874	Almond-shaped palpebral fissure	2175	FANCA	ORPHA:84
HP:0007874	Almond-shaped palpebral fissure	2187	FANCB	ORPHA:84
HP:0007874	Almond-shaped palpebral fissure	2176	FANCC	ORPHA:84
HP:0007874	Almond-shaped palpebral fissure	2178	FANCE	ORPHA:84
HP:0007874	Almond-shaped palpebral fissure	2188	FANCF	ORPHA:84
HP:0007874	Almond-shaped palpebral fissure	2189	FANCG	ORPHA:84
HP:0007874	Almond-shaped palpebral fissure	5888	RAD51	ORPHA:84
HP:0007874	Almond-shaped palpebral fissure	5889	RAD51C	ORPHA:84
HP:0007874	Almond-shaped palpebral fissure	55159	RFWD3	ORPHA:84
HP:0007874	Almond-shaped palpebral fissure	83990	BRIP1	ORPHA:84
HP:0007874	Almond-shaped palpebral fissure	57697	FANCM	ORPHA:84
HP:0007874	Almond-shaped palpebral fissure	79728	PALB2	ORPHA:84
HP:0007874	Almond-shaped palpebral fissure	84464	SLX4	ORPHA:84
HP:0007874	Almond-shaped palpebral fissure	2072	ERCC4	ORPHA:84
HP:0007874	Almond-shaped palpebral fissure	55215	FANCI	ORPHA:84
HP:0007874	Almond-shaped palpebral fissure	100033413	SNORD116-1	OMIM:176270
HP:0007874	Almond-shaped palpebral fissure	8924	HERC2	OMIM:176270
HP:0007874	Almond-shaped palpebral fissure	23742	NPAP1	OMIM:176270
HP:0007874	Almond-shaped palpebral fissure	338433	SNORD115-1	OMIM:176270
HP:0007874	Almond-shaped palpebral fissure	7681	MKRN3	OMIM:176270
HP:0007874	Almond-shaped palpebral fissure	145624	PWAR1	OMIM:176270
HP:0007874	Almond-shaped palpebral fissure	3653	IPW	OMIM:176270
HP:0007874	Almond-shaped palpebral fissure	791114	PWRN1	OMIM:176270
HP:0007874	Almond-shaped palpebral fissure	26523	AGO1	OMIM:620292
HP:0007874	Almond-shaped palpebral fissure	6045	RNF2	OMIM:619460
HP:0007874	Almond-shaped palpebral fissure	7319	UBE2A	OMIM:300860
HP:0007874	Almond-shaped palpebral fissure	23040	MYT1L	ORPHA:647799
HP:0007874	Almond-shaped palpebral fissure	55023	PHIP	ORPHA:589905
HP:0007874	Almond-shaped palpebral fissure	1105	CHD1	OMIM:617682
HP:0007874	Almond-shaped palpebral fissure	1105	CHD1	ORPHA:529965
HP:0007874	Almond-shaped palpebral fissure	10524	KAT5	OMIM:619103
HP:0007874	Almond-shaped palpebral fissure	6857	SYT1	ORPHA:522077
HP:0007874	Almond-shaped palpebral fissure	10300	KATNB1	OMIM:616212
HP:0007874	Almond-shaped palpebral fissure	5594	MAPK1	OMIM:619087
HP:0007874	Almond-shaped palpebral fissure	80173	IFT74	OMIM:619582
HP:0007874	Almond-shaped palpebral fissure	3188	HNRNPH2	OMIM:300986
HP:0007874	Almond-shaped palpebral fissure	6492	SIM1	ORPHA:171829
HP:0007874	Almond-shaped palpebral fissure	6492	SIM1	ORPHA:398079
HP:0007874	Almond-shaped palpebral fissure	84520	GON7	OMIM:619603
HP:0007874	Almond-shaped palpebral fissure	26057	ANKRD17	OMIM:619504
HP:0007874	Almond-shaped palpebral fissure	26834	RNU4-2	OMIM:620851
HP:0007874	Almond-shaped palpebral fissure	5373	PMM2	OMIM:212065
HP:0007874	Almond-shaped palpebral fissure	1759	DNM1	OMIM:620352
HP:0100019	Cortical cataract	5062	PAK2	OMIM:618458
HP:0100019	Cortical cataract	80207	OPA3	ORPHA:67036
HP:0100019	Cortical cataract	4952	OCRL	OMIM:309000
HP:0100019	Cortical cataract	55229	PANK4	OMIM:619593
HP:0100019	Cortical cataract	80781	COL18A1	OMIM:267750
HP:0100019	Cortical cataract	79797	ZNF408	OMIM:616468
HP:0100019	Cortical cataract	57670	KIAA1549	OMIM:618613
HP:0100019	Cortical cataract	7855	FZD5	OMIM:620731
HP:0100019	Cortical cataract	4771	NF2	ORPHA:637
HP:0100019	Cortical cataract	4771	NF2	OMIM:101000
HP:0100019	Cortical cataract	1427	CRYGS	OMIM:116100
HP:0100019	Cortical cataract	631	BFSP1	OMIM:611391
HP:0100019	Cortical cataract	4284	MIP	OMIM:615274
HP:0000601	Hypotelorism	7291	TWIST1	ORPHA:794
HP:0000601	Hypotelorism	2263	FGFR2	ORPHA:794
HP:0000601	Hypotelorism	2261	FGFR3	ORPHA:794
HP:0000601	Hypotelorism	84706	GPT2	OMIM:616281
HP:0000601	Hypotelorism	84706	GPT2	ORPHA:477673
HP:0000601	Hypotelorism	8243	SMC1A	OMIM:301044
HP:0000601	Hypotelorism	8243	SMC1A	ORPHA:220386
HP:0000601	Hypotelorism	91452	ACBD5	OMIM:618863
HP:0000601	Hypotelorism	56896	DPYSL5	OMIM:619435
HP:0000601	Hypotelorism	23019	CNOT1	OMIM:618500
HP:0000601	Hypotelorism	23019	CNOT1	ORPHA:556955
HP:0000601	Hypotelorism	128674	PROKR2	OMIM:244200
HP:0000601	Hypotelorism	5885	RAD21	OMIM:614701
HP:0000601	Hypotelorism	55627	SMPD4	OMIM:618622
HP:0000601	Hypotelorism	8818	DPM2	ORPHA:329178
HP:0000601	Hypotelorism	8818	DPM2	OMIM:615042
HP:0000601	Hypotelorism	54820	NDE1	ORPHA:2177
HP:0000601	Hypotelorism	253738	EBF3	ORPHA:96148
HP:0000601	Hypotelorism	4076	CAPRIN1	OMIM:620782
HP:0000601	Hypotelorism	10060	ABCC9	OMIM:619719
HP:0000601	Hypotelorism	3981	LIG4	OMIM:606593
HP:0000601	Hypotelorism	5575	PRKAR1B	OMIM:619680
HP:0000601	Hypotelorism	4983	OPHN1	OMIM:300486
HP:0000601	Hypotelorism	29998	BICRA	OMIM:619325
HP:0000601	Hypotelorism	5859	QARS1	OMIM:615760
HP:0000601	Hypotelorism	84162	BLTP1	OMIM:617822
HP:0000601	Hypotelorism	473	RERE	OMIM:616975
HP:0000601	Hypotelorism	2624	GATA2	OMIM:614038
HP:0000601	Hypotelorism	10157	AASS	ORPHA:2203
HP:0000601	Hypotelorism	22858	CILK1	OMIM:612651
HP:0000601	Hypotelorism	84520	GON7	OMIM:619603
HP:0000601	Hypotelorism	84520	GON7	ORPHA:2065
HP:0000601	Hypotelorism	55033	FKBP14	OMIM:614557
HP:0000601	Hypotelorism	23729	SHPK	ORPHA:440713
HP:0000601	Hypotelorism	26153	KIF26A	OMIM:620156
HP:0000601	Hypotelorism	5053	PAH	ORPHA:2209
HP:0000601	Hypotelorism	23097	CDK19	OMIM:618916
HP:0000601	Hypotelorism	57539	WDR35	ORPHA:1515
HP:0000601	Hypotelorism	112752	IFT43	ORPHA:1515
HP:0000601	Hypotelorism	51098	IFT52	ORPHA:1515
HP:0000601	Hypotelorism	55764	IFT122	ORPHA:1515
HP:0000601	Hypotelorism	55764	IFT122	OMIM:218330
HP:0000601	Hypotelorism	57728	WDR19	ORPHA:1515
HP:0000601	Hypotelorism	2260	FGFR1	ORPHA:280200
HP:0000601	Hypotelorism	2260	FGFR1	OMIM:190440
HP:0000601	Hypotelorism	2260	FGFR1	ORPHA:3366
HP:0000601	Hypotelorism	2260	FGFR1	ORPHA:93924
HP:0000601	Hypotelorism	2260	FGFR1	ORPHA:220386
HP:0000601	Hypotelorism	2260	FGFR1	OMIM:615465
HP:0000601	Hypotelorism	28514	DLL1	ORPHA:280200
HP:0000601	Hypotelorism	28514	DLL1	ORPHA:93926
HP:0000601	Hypotelorism	28514	DLL1	ORPHA:93924
HP:0000601	Hypotelorism	28514	DLL1	ORPHA:93925
HP:0000601	Hypotelorism	28514	DLL1	ORPHA:220386
HP:0000601	Hypotelorism	2253	FGF8	ORPHA:280200
HP:0000601	Hypotelorism	2253	FGF8	ORPHA:93926
HP:0000601	Hypotelorism	2253	FGF8	ORPHA:93924
HP:0000601	Hypotelorism	2253	FGF8	ORPHA:93925
HP:0000601	Hypotelorism	2253	FGF8	ORPHA:220386
HP:0000601	Hypotelorism	6496	SIX3	ORPHA:280200
HP:0000601	Hypotelorism	6496	SIX3	ORPHA:93926
HP:0000601	Hypotelorism	6496	SIX3	ORPHA:93924
HP:0000601	Hypotelorism	6496	SIX3	ORPHA:93925
HP:0000601	Hypotelorism	6496	SIX3	ORPHA:220386
HP:0000601	Hypotelorism	6496	SIX3	OMIM:157170
HP:0000601	Hypotelorism	7050	TGIF1	ORPHA:280200
HP:0000601	Hypotelorism	7050	TGIF1	OMIM:142946
HP:0000601	Hypotelorism	7050	TGIF1	ORPHA:93926
HP:0000601	Hypotelorism	7050	TGIF1	ORPHA:93924
HP:0000601	Hypotelorism	7050	TGIF1	ORPHA:93925
HP:0000601	Hypotelorism	7050	TGIF1	ORPHA:220386
HP:0000601	Hypotelorism	4838	NODAL	ORPHA:280200
HP:0000601	Hypotelorism	4838	NODAL	ORPHA:93926
HP:0000601	Hypotelorism	4838	NODAL	ORPHA:93924
HP:0000601	Hypotelorism	4838	NODAL	ORPHA:93925
HP:0000601	Hypotelorism	4838	NODAL	ORPHA:220386
HP:0000601	Hypotelorism	6469	SHH	ORPHA:280200
HP:0000601	Hypotelorism	6469	SHH	OMIM:142945
HP:0000601	Hypotelorism	6469	SHH	ORPHA:93926
HP:0000601	Hypotelorism	6469	SHH	ORPHA:93924
HP:0000601	Hypotelorism	6469	SHH	ORPHA:93925
HP:0000601	Hypotelorism	6469	SHH	ORPHA:220386
HP:0000601	Hypotelorism	6469	SHH	OMIM:147250
HP:0000601	Hypotelorism	51684	SUFU	ORPHA:280200
HP:0000601	Hypotelorism	7546	ZIC2	ORPHA:280200
HP:0000601	Hypotelorism	7546	ZIC2	ORPHA:93926
HP:0000601	Hypotelorism	7546	ZIC2	ORPHA:93924
HP:0000601	Hypotelorism	7546	ZIC2	ORPHA:93925
HP:0000601	Hypotelorism	7546	ZIC2	ORPHA:220386
HP:0000601	Hypotelorism	7546	ZIC2	OMIM:609637
HP:0000601	Hypotelorism	2619	GAS1	ORPHA:280200
HP:0000601	Hypotelorism	2619	GAS1	ORPHA:93926
HP:0000601	Hypotelorism	2619	GAS1	ORPHA:93924
HP:0000601	Hypotelorism	2619	GAS1	ORPHA:93925
HP:0000601	Hypotelorism	2619	GAS1	ORPHA:220386
HP:0000601	Hypotelorism	84976	DISP1	ORPHA:280200
HP:0000601	Hypotelorism	84976	DISP1	ORPHA:93926
HP:0000601	Hypotelorism	84976	DISP1	ORPHA:93924
HP:0000601	Hypotelorism	84976	DISP1	ORPHA:93925
HP:0000601	Hypotelorism	84976	DISP1	ORPHA:220386
HP:0000601	Hypotelorism	2736	GLI2	ORPHA:280200
HP:0000601	Hypotelorism	2736	GLI2	ORPHA:93926
HP:0000601	Hypotelorism	2736	GLI2	ORPHA:93924
HP:0000601	Hypotelorism	2736	GLI2	ORPHA:93925
HP:0000601	Hypotelorism	2736	GLI2	OMIM:610829
HP:0000601	Hypotelorism	2736	GLI2	OMIM:615849
HP:0000601	Hypotelorism	2736	GLI2	ORPHA:220386
HP:0000601	Hypotelorism	8928	FOXH1	ORPHA:280200
HP:0000601	Hypotelorism	8928	FOXH1	ORPHA:93926
HP:0000601	Hypotelorism	8928	FOXH1	ORPHA:93924
HP:0000601	Hypotelorism	8928	FOXH1	ORPHA:93925
HP:0000601	Hypotelorism	8928	FOXH1	ORPHA:220386
HP:0000601	Hypotelorism	6997	CRIPTO	ORPHA:280200
HP:0000601	Hypotelorism	6997	CRIPTO	ORPHA:93926
HP:0000601	Hypotelorism	6997	CRIPTO	ORPHA:93924
HP:0000601	Hypotelorism	6997	CRIPTO	ORPHA:93925
HP:0000601	Hypotelorism	6997	CRIPTO	ORPHA:220386
HP:0000601	Hypotelorism	5727	PTCH1	ORPHA:280200
HP:0000601	Hypotelorism	5727	PTCH1	ORPHA:93926
HP:0000601	Hypotelorism	5727	PTCH1	ORPHA:93924
HP:0000601	Hypotelorism	5727	PTCH1	ORPHA:93925
HP:0000601	Hypotelorism	5727	PTCH1	OMIM:610828
HP:0000601	Hypotelorism	5727	PTCH1	ORPHA:220386
HP:0000601	Hypotelorism	50937	CDON	ORPHA:280200
HP:0000601	Hypotelorism	50937	CDON	ORPHA:93926
HP:0000601	Hypotelorism	50937	CDON	ORPHA:93924
HP:0000601	Hypotelorism	50937	CDON	ORPHA:93925
HP:0000601	Hypotelorism	50937	CDON	OMIM:614226
HP:0000601	Hypotelorism	50937	CDON	ORPHA:220386
HP:0000601	Hypotelorism	10559	SLC35A1	OMIM:603585
HP:0000601	Hypotelorism	84987	COX14	OMIM:619053
HP:0000601	Hypotelorism	16	AARS1	OMIM:619691
HP:0000601	Hypotelorism	16	AARS1	ORPHA:33364
HP:0000601	Hypotelorism	83696	TRAPPC9	OMIM:613192
HP:0000601	Hypotelorism	51132	RLIM	OMIM:300978
HP:0000601	Hypotelorism	57492	ARID1B	OMIM:135900
HP:0000601	Hypotelorism	537	ATP6AP1	OMIM:300972
HP:0000601	Hypotelorism	9401	RECQL4	ORPHA:1225
HP:0000601	Hypotelorism	815	CAMK2A	OMIM:617798
HP:0000601	Hypotelorism	5831	PYCR1	OMIM:612940
HP:0000601	Hypotelorism	3183	HNRNPC	OMIM:620688
HP:0000601	Hypotelorism	158326	FREM1	ORPHA:3366
HP:0000601	Hypotelorism	2697	GJA1	ORPHA:2710
HP:0000601	Hypotelorism	4763	NF1	ORPHA:363700
HP:0000601	Hypotelorism	372	ARCN1	OMIM:617164
HP:0000601	Hypotelorism	5442	POLRMT	OMIM:619743
HP:0000601	Hypotelorism	3188	HNRNPH2	OMIM:300986
HP:0000601	Hypotelorism	51199	NIN	OMIM:614851
HP:0000601	Hypotelorism	51199	NIN	ORPHA:319675
HP:0000601	Hypotelorism	5144	PDE4D	ORPHA:439822
HP:0000601	Hypotelorism	6491	STIL	ORPHA:93926
HP:0000601	Hypotelorism	6491	STIL	ORPHA:93924
HP:0000601	Hypotelorism	6491	STIL	ORPHA:93925
HP:0000601	Hypotelorism	6491	STIL	ORPHA:220386
HP:0000601	Hypotelorism	2783	GNB2	OMIM:619503
HP:0000601	Hypotelorism	23007	PLCH1	ORPHA:93925
HP:0000601	Hypotelorism	10735	STAG2	ORPHA:93925
HP:0000601	Hypotelorism	10735	STAG2	ORPHA:220386
HP:0000601	Hypotelorism	55361	PI4K2A	OMIM:620732
HP:0000601	Hypotelorism	6638	SNRPN	ORPHA:177907
HP:0000601	Hypotelorism	55154	MSTO1	ORPHA:502423
HP:0000601	Hypotelorism	26834	RNU4-2	OMIM:620851
HP:0000601	Hypotelorism	10801	SEPTIN9	OMIM:162100
HP:0000601	Hypotelorism	8943	AP3D1	OMIM:617050
HP:0000601	Hypotelorism	1182	CLCN3	OMIM:619512
HP:0000601	Hypotelorism	1859	DYRK1A	OMIM:614104
HP:0000601	Hypotelorism	57282	SLC4A10	OMIM:620746
HP:0000601	Hypotelorism	132884	EVC2	OMIM:193530
HP:0000601	Hypotelorism	2121	EVC	OMIM:193530
HP:0000601	Hypotelorism	10056	FARSB	OMIM:613658
HP:0000601	Hypotelorism	11128	POLR3A	OMIM:264090
HP:0000601	Hypotelorism	25914	RTTN	ORPHA:468631
HP:0000601	Hypotelorism	145258	GSC	OMIM:602471
HP:0000601	Hypotelorism	284252	KCTD1	OMIM:181270
HP:0000601	Hypotelorism	374879	ZNF699	OMIM:619488
HP:0000601	Hypotelorism	5159	PDGFRB	OMIM:601812
HP:0000601	Hypotelorism	8239	USP9X	OMIM:300968
HP:0000601	Hypotelorism	90416	CCDC32	OMIM:619123
HP:0000601	Hypotelorism	4849	CNOT3	OMIM:618672
HP:0000601	Hypotelorism	6786	STIM1	OMIM:185070
HP:0000601	Hypotelorism	9702	CEP57	OMIM:614114
HP:0000601	Hypotelorism	5832	ALDH18A1	OMIM:219150
HP:0000601	Hypotelorism	84919	PPP1R15B	OMIM:616817
HP:0000601	Hypotelorism	84919	PPP1R15B	ORPHA:391408
HP:0000601	Hypotelorism	93587	TRMT10A	ORPHA:391408
HP:0000601	Hypotelorism	6714	SRC	OMIM:616937
HP:0000601	Hypotelorism	2006	ELN	OMIM:194050
HP:0000601	Hypotelorism	51085	MLXIPL	OMIM:194050
HP:0000601	Hypotelorism	84628	NTNG2	OMIM:618718
HP:0000601	Hypotelorism	4488	MSX2	OMIM:604757
HP:0000601	Hypotelorism	57724	EPG5	OMIM:242840
HP:0000601	Hypotelorism	57724	EPG5	ORPHA:1493
HP:0000601	Hypotelorism	4677	NARS1	OMIM:619091
HP:0000601	Hypotelorism	2177	FANCD2	OMIM:227646
HP:0000601	Hypotelorism	54888	NSUN2	OMIM:611091
HP:0000601	Hypotelorism	7518	XRCC4	OMIM:616541
HP:0000601	Hypotelorism	2678	GGT1	OMIM:231950
HP:0000601	Hypotelorism	22930	RAB3GAP1	ORPHA:1387
HP:0000601	Hypotelorism	25782	RAB3GAP2	ORPHA:1387
HP:0000601	Hypotelorism	284058	KANSL1	OMIM:610443
HP:0000601	Hypotelorism	404672	GTF2H5	ORPHA:33364
HP:0000601	Hypotelorism	404672	GTF2H5	OMIM:616395
HP:0000601	Hypotelorism	833	CARS1	ORPHA:33364
HP:0000601	Hypotelorism	2068	ERCC2	ORPHA:33364
HP:0000601	Hypotelorism	7737	RNF113A	ORPHA:33364
HP:0000601	Hypotelorism	136647	MPLKIP	ORPHA:33364
HP:0000601	Hypotelorism	6897	TARS1	ORPHA:33364
HP:0000601	Hypotelorism	2071	ERCC3	ORPHA:33364
HP:0000601	Hypotelorism	2961	GTF2E2	ORPHA:33364
HP:0000601	Hypotelorism	4693	NDP	ORPHA:649
HP:0000601	Hypotelorism	5631	PRPS1	OMIM:300661
HP:0000601	Hypotelorism	8295	TRRAP	OMIM:618454
HP:0000601	Hypotelorism	54903	MKS1	OMIM:249000
HP:0000601	Hypotelorism	1523	CUX1	OMIM:618330
HP:0000601	Hypotelorism	2703	GJA8	OMIM:612474
HP:0000601	Hypotelorism	2702	GJA5	OMIM:612474
HP:0000601	Hypotelorism	84148	KAT8	OMIM:618974
HP:0000601	Hypotelorism	1642	DDB1	OMIM:619426
HP:0000601	Hypotelorism	10664	CTCF	OMIM:615502
HP:0000601	Hypotelorism	79693	YRDC	ORPHA:2065
HP:0000601	Hypotelorism	51002	TPRKB	ORPHA:2065
HP:0000601	Hypotelorism	84942	WDR73	ORPHA:2065
HP:0000601	Hypotelorism	55644	OSGEP	ORPHA:2065
HP:0000601	Hypotelorism	57122	NUP107	ORPHA:2065
HP:0000601	Hypotelorism	10785	WDR4	ORPHA:2065
HP:0000601	Hypotelorism	55746	NUP133	ORPHA:2065
HP:0000601	Hypotelorism	112858	TP53RK	ORPHA:2065
HP:0000601	Hypotelorism	8270	LAGE3	ORPHA:2065
HP:0000601	Hypotelorism	64858	DCLRE1B	OMIM:620133
HP:0000601	Hypotelorism	8085	KMT2D	OMIM:147920
HP:0000601	Hypotelorism	7403	KDM6A	OMIM:147920
HP:0000601	Hypotelorism	10075	HUWE1	OMIM:309590
HP:0007859	Congenital horizontal nystagmus	2898	GRIK2	OMIM:619580
HP:0007859	Congenital horizontal nystagmus	3708	ITPR1	OMIM:117360
HP:0007862	Retinal calcification	63901	FAM111A	OMIM:127000
HP:0007862	Retinal calcification	63901	FAM111A	ORPHA:93325
HP:0007862	Retinal calcification	4041	LRP5	OMIM:259770
HP:0007862	Retinal calcification	5925	RB1	OMIM:180200
HP:0000541	Retinal detachment	64132	XYLT2	OMIM:605822
HP:0000541	Retinal detachment	64132	XYLT2	ORPHA:85194
HP:0000541	Retinal detachment	8322	FZD4	OMIM:133780
HP:0000541	Retinal detachment	4041	LRP5	OMIM:133780
HP:0000541	Retinal detachment	4041	LRP5	ORPHA:2788
HP:0000541	Retinal detachment	875	CBS	ORPHA:394
HP:0000541	Retinal detachment	875	CBS	OMIM:236200
HP:0000541	Retinal detachment	778	CACNA1F	OMIM:300476
HP:0000541	Retinal detachment	6399	TRAPPC2	ORPHA:93284
HP:0000541	Retinal detachment	6247	RS1	ORPHA:792
HP:0000541	Retinal detachment	6247	RS1	OMIM:312700
HP:0000541	Retinal detachment	286053	NSMCE2	OMIM:617253
HP:0000541	Retinal detachment	286053	NSMCE2	ORPHA:436182
HP:0000541	Retinal detachment	5351	PLOD1	OMIM:225400
HP:0000541	Retinal detachment	5351	PLOD1	ORPHA:1900
HP:0000541	Retinal detachment	1859	DYRK1A	ORPHA:268261
HP:0000541	Retinal detachment	1859	DYRK1A	ORPHA:464311
HP:0000541	Retinal detachment	220	ALDH1A3	OMIM:615113
HP:0000541	Retinal detachment	652	BMP4	ORPHA:828
HP:0000541	Retinal detachment	4897	NRCAM	OMIM:619833
HP:0000541	Retinal detachment	4693	NDP	OMIM:310600
HP:0000541	Retinal detachment	4693	NDP	ORPHA:190
HP:0000541	Retinal detachment	4693	NDP	ORPHA:649
HP:0000541	Retinal detachment	4693	NDP	OMIM:305390
HP:0000541	Retinal detachment	22947	DUX4L1	ORPHA:269
HP:0000541	Retinal detachment	1789	DNMT3B	ORPHA:269
HP:0000541	Retinal detachment	2483	FRG1	ORPHA:269
HP:0000541	Retinal detachment	23347	SMCHD1	ORPHA:269
HP:0000541	Retinal detachment	100288687	DUX4	ORPHA:269
HP:0000541	Retinal detachment	2200	FBN1	OMIM:129600
HP:0000541	Retinal detachment	2200	FBN1	OMIM:154700
HP:0000541	Retinal detachment	2200	FBN1	ORPHA:2833
HP:0000541	Retinal detachment	1301	COL11A1	OMIM:604841
HP:0000541	Retinal detachment	1301	COL11A1	OMIM:154780
HP:0000541	Retinal detachment	1301	COL11A1	ORPHA:560
HP:0000541	Retinal detachment	1301	COL11A1	ORPHA:90654
HP:0000541	Retinal detachment	9227	LRAT	ORPHA:364055
HP:0000541	Retinal detachment	55812	SPATA7	ORPHA:364055
HP:0000541	Retinal detachment	6121	RPE65	ORPHA:364055
HP:0000541	Retinal detachment	167691	LCA5	ORPHA:364055
HP:0000541	Retinal detachment	64412	GZF1	OMIM:617662
HP:0000541	Retinal detachment	10413	YAP1	ORPHA:1473
HP:0000541	Retinal detachment	5728	PTEN	ORPHA:2969
HP:0000541	Retinal detachment	2314	FLII	ORPHA:819
HP:0000541	Retinal detachment	23096	IQSEC2	ORPHA:819
HP:0000541	Retinal detachment	10743	RAI1	ORPHA:819
HP:0000541	Retinal detachment	10743	RAI1	OMIM:182290
HP:0000541	Retinal detachment	10522	DEAF1	ORPHA:819
HP:0000541	Retinal detachment	29072	SETD2	OMIM:620157
HP:0000541	Retinal detachment	29072	SETD2	OMIM:620155
HP:0000541	Retinal detachment	29954	POMT2	OMIM:236670
HP:0000541	Retinal detachment	29954	POMT2	ORPHA:899
HP:0000541	Retinal detachment	29954	POMT2	ORPHA:370959
HP:0000541	Retinal detachment	79147	FKRP	OMIM:236670
HP:0000541	Retinal detachment	79147	FKRP	ORPHA:899
HP:0000541	Retinal detachment	79147	FKRP	ORPHA:370959
HP:0000541	Retinal detachment	79147	FKRP	OMIM:613153
HP:0000541	Retinal detachment	2218	FKTN	OMIM:236670
HP:0000541	Retinal detachment	2218	FKTN	ORPHA:899
HP:0000541	Retinal detachment	2218	FKTN	OMIM:253800
HP:0000541	Retinal detachment	10585	POMT1	OMIM:236670
HP:0000541	Retinal detachment	10585	POMT1	ORPHA:899
HP:0000541	Retinal detachment	10585	POMT1	ORPHA:370959
HP:0000541	Retinal detachment	9215	LARGE1	OMIM:236670
HP:0000541	Retinal detachment	9215	LARGE1	ORPHA:899
HP:0000541	Retinal detachment	84892	POMGNT2	ORPHA:899
HP:0000541	Retinal detachment	148789	B3GALNT2	ORPHA:899
HP:0000541	Retinal detachment	148789	B3GALNT2	OMIM:615181
HP:0000541	Retinal detachment	1282	COL4A1	ORPHA:899
HP:0000541	Retinal detachment	729920	CRPPA	ORPHA:899
HP:0000541	Retinal detachment	729920	CRPPA	OMIM:614643
HP:0000541	Retinal detachment	10329	RXYLT1	ORPHA:899
HP:0000541	Retinal detachment	1605	DAG1	ORPHA:899
HP:0000541	Retinal detachment	11041	B4GAT1	ORPHA:899
HP:0000541	Retinal detachment	84197	POMK	ORPHA:899
HP:0000541	Retinal detachment	84197	POMK	ORPHA:370959
HP:0000541	Retinal detachment	55624	POMGNT1	ORPHA:899
HP:0000541	Retinal detachment	55624	POMGNT1	ORPHA:370959
HP:0000541	Retinal detachment	5080	PAX6	ORPHA:35737
HP:0000541	Retinal detachment	5080	PAX6	OMIM:120430
HP:0000541	Retinal detachment	3105	HLA-A	ORPHA:179
HP:0000541	Retinal detachment	7439	BEST1	OMIM:613194
HP:0000541	Retinal detachment	7439	BEST1	OMIM:193220
HP:0000541	Retinal detachment	1298	COL9A2	OMIM:614284
HP:0000541	Retinal detachment	1298	COL9A2	ORPHA:250984
HP:0000541	Retinal detachment	7275	TUB	OMIM:616188
HP:0000541	Retinal detachment	113189	CHST14	ORPHA:2953
HP:0000541	Retinal detachment	113189	CHST14	OMIM:601776
HP:0000541	Retinal detachment	29940	DSE	ORPHA:2953
HP:0000541	Retinal detachment	79797	ZNF408	OMIM:616468
HP:0000541	Retinal detachment	54880	BCOR	ORPHA:2712
HP:0000541	Retinal detachment	54880	BCOR	OMIM:300166
HP:0000541	Retinal detachment	2301	FOXE3	ORPHA:83461
HP:0000541	Retinal detachment	91851	CHRDL1	OMIM:309300
HP:0000541	Retinal detachment	1280	COL2A1	ORPHA:94068
HP:0000541	Retinal detachment	1280	COL2A1	OMIM:156550
HP:0000541	Retinal detachment	1280	COL2A1	ORPHA:90653
HP:0000541	Retinal detachment	1280	COL2A1	OMIM:183900
HP:0000541	Retinal detachment	1280	COL2A1	ORPHA:1856
HP:0000541	Retinal detachment	1280	COL2A1	OMIM:108300
HP:0000541	Retinal detachment	1280	COL2A1	ORPHA:93296
HP:0000541	Retinal detachment	1280	COL2A1	ORPHA:485
HP:0000541	Retinal detachment	3913	LAMB2	OMIM:609049
HP:0000541	Retinal detachment	3913	LAMB2	OMIM:614199
HP:0000541	Retinal detachment	79087	ALG12	OMIM:607143
HP:0000541	Retinal detachment	79087	ALG12	ORPHA:79324
HP:0000541	Retinal detachment	55214	P3H2	OMIM:614292
HP:0000541	Retinal detachment	55714	TENM3	OMIM:615145
HP:0000541	Retinal detachment	92949	ADAMTSL1	ORPHA:521445
HP:0000541	Retinal detachment	80781	COL18A1	ORPHA:1571
HP:0000541	Retinal detachment	80781	COL18A1	OMIM:267750
HP:0000541	Retinal detachment	5062	PAK2	ORPHA:1571
HP:0000541	Retinal detachment	5062	PAK2	OMIM:618458
HP:0000541	Retinal detachment	4036	LRP2	ORPHA:2143
HP:0000541	Retinal detachment	4036	LRP2	OMIM:222448
HP:0000541	Retinal detachment	7855	FZD5	OMIM:620731
HP:0000541	Retinal detachment	1499	CTNNB1	OMIM:617572
HP:0000541	Retinal detachment	54507	ADAMTSL4	OMIM:225200
HP:0000541	Retinal detachment	10526	IPO8	OMIM:619472
HP:0000541	Retinal detachment	4810	NHS	ORPHA:627
HP:0000541	Retinal detachment	8314	BAP1	ORPHA:39044
HP:0000541	Retinal detachment	57105	CYSLTR2	ORPHA:39044
HP:0000541	Retinal detachment	2776	GNAQ	ORPHA:39044
HP:0000541	Retinal detachment	2776	GNAQ	ORPHA:3205
HP:0000541	Retinal detachment	2767	GNA11	ORPHA:39044
HP:0000541	Retinal detachment	2767	GNA11	ORPHA:1556
HP:0000541	Retinal detachment	23451	SF3B1	ORPHA:39044
HP:0000541	Retinal detachment	8517	IKBKG	ORPHA:464
HP:0000541	Retinal detachment	8517	IKBKG	OMIM:308300
HP:0000541	Retinal detachment	29925	GMPPB	ORPHA:370959
HP:0000541	Retinal detachment	726	CAPN5	OMIM:193235
HP:0000541	Retinal detachment	3832	KIF11	ORPHA:2526
HP:0000541	Retinal detachment	3832	KIF11	OMIM:152950
HP:0000541	Retinal detachment	7518	XRCC4	ORPHA:436182
HP:0000541	Retinal detachment	11107	PRDM5	ORPHA:90354
HP:0000541	Retinal detachment	84627	ZNF469	ORPHA:90354
HP:0000541	Retinal detachment	151188	ARL6IP6	ORPHA:1556
HP:0000541	Retinal detachment	7428	VHL	ORPHA:892
HP:0000541	Retinal detachment	595	CCND1	ORPHA:892
HP:0000541	Retinal detachment	3769	KCNJ13	OMIM:193230
HP:0000541	Retinal detachment	8974	P4HA2	OMIM:617238
HP:0000541	Retinal detachment	4094	MAF	OMIM:610202
HP:0000541	Retinal detachment	4990	SIX6	OMIM:212550
HP:0000541	Retinal detachment	3166	HMX1	OMIM:612109
HP:0000541	Retinal detachment	1302	COL11A2	ORPHA:1427
HP:0000541	Retinal detachment	5076	PAX2	OMIM:120330
HP:0000541	Retinal detachment	84695	LOXL3	OMIM:619781
HP:0000541	Retinal detachment	7543	ZFX	OMIM:301118
HP:0000541	Retinal detachment	355	FAS	ORPHA:3437
HP:0000541	Retinal detachment	26191	PTPN22	ORPHA:3437
HP:0000541	Retinal detachment	85378	TUBGCP6	OMIM:251270
HP:0000541	Retinal detachment	1297	COL9A1	ORPHA:250984
HP:0000541	Retinal detachment	1299	COL9A3	ORPHA:250984
HP:0000541	Retinal detachment	80036	TRPM3	OMIM:620253
HP:0000541	Retinal detachment	90952	ESAM	OMIM:620371
HP:0000541	Retinal detachment	1462	VCAN	OMIM:143200
HP:0000541	Retinal detachment	220202	ATOH7	OMIM:221900
HP:0000541	Retinal detachment	5961	PRPH2	ORPHA:99000
HP:0000541	Retinal detachment	50939	IMPG2	ORPHA:99000
HP:0000541	Retinal detachment	3617	IMPG1	ORPHA:99000
HP:0000541	Retinal detachment	207	AKT1	ORPHA:744
HP:0000541	Retinal detachment	23554	TSPAN12	OMIM:613310
HP:0000541	Retinal detachment	23554	TSPAN12	ORPHA:891
HP:0000541	Retinal detachment	3490	IGFBP7	OMIM:614224
HP:0000541	Retinal detachment	2202	EFEMP1	ORPHA:75376
HP:0000541	Retinal detachment	3075	CFH	ORPHA:75376
HP:0000541	Retinal detachment	3426	CFI	ORPHA:75376
HP:0007866	Retinal infarction	59	ACTA2	OMIM:613834
HP:0007936	Restrictive external ophthalmoplegia	401	PHOX2A	OMIM:602078
HP:0007936	Restrictive external ophthalmoplegia	55605	KIF21A	OMIM:135700
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	63895	PIEZO2	ORPHA:2461
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	64374	SIL1	ORPHA:559
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	84892	POMGNT2	ORPHA:899
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	148789	B3GALNT2	ORPHA:899
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	79147	FKRP	ORPHA:899
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	29954	POMT2	ORPHA:899
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	9215	LARGE1	ORPHA:899
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	1282	COL4A1	ORPHA:899
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	729920	CRPPA	ORPHA:899
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	10329	RXYLT1	ORPHA:899
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	1605	DAG1	ORPHA:899
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	11041	B4GAT1	ORPHA:899
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	10585	POMT1	ORPHA:899
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	84197	POMK	ORPHA:899
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	2218	FKTN	ORPHA:899
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	55624	POMGNT1	ORPHA:899
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	1134	CHRNA1	OMIM:253290
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	1146	CHRNG	OMIM:253290
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	1144	CHRND	OMIM:253290
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	59341	TRPV4	OMIM:181405
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	9939	RBM8A	OMIM:274000
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	2201	FBN2	OMIM:121050
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	5376	PMP22	ORPHA:90658
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	859	CAV3	ORPHA:488650
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	57167	SALL4	OMIM:607323
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	79796	ALG9	ORPHA:79328
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	78989	COLEC11	OMIM:265050
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	2316	FLNA	OMIM:305620
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	2316	FLNA	ORPHA:1826
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	57190	SELENON	ORPHA:2020
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	58	ACTA1	ORPHA:2020
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	4633	MYL2	ORPHA:2020
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	3679	ITGA7	ORPHA:2020
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	7169	TPM2	ORPHA:2020
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	9200	HACD1	ORPHA:2020
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	7170	TPM3	ORPHA:2020
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	51776	MAP3K20	ORPHA:2020
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	3043	HBB	ORPHA:231226
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	3043	HBB	ORPHA:231214
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	55640	FLVCR2	OMIM:225790
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	23545	ATP6V0A2	OMIM:278250
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	7046	TGFBR1	OMIM:609192
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	6329	SCN4A	OMIM:620369
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	6885	MAP3K7	ORPHA:1826
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	389827	MYMK	OMIM:254940
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	2733	GLE1	OMIM:253310
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	6910	TBX5	OMIM:142900
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	5980	REV3L	ORPHA:570
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	23129	PLXND1	ORPHA:570
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	3708	ITPR1	OMIM:206700
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	6926	TBX3	ORPHA:3138
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	101929726	MYMX	ORPHA:1358
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	4010	LMX1B	OMIM:161200
HP:0001464	Aplasia/Hypoplasia involving the shoulder musculature	2316	FLNA	ORPHA:1826
HP:0001464	Aplasia/Hypoplasia involving the shoulder musculature	6885	MAP3K7	ORPHA:1826
HP:0001464	Aplasia/Hypoplasia involving the shoulder musculature	9939	RBM8A	OMIM:274000
HP:0001464	Aplasia/Hypoplasia involving the shoulder musculature	57167	SALL4	OMIM:147750
HP:0001464	Aplasia/Hypoplasia involving the shoulder musculature	6910	TBX5	OMIM:142900
HP:0001465	Amyotrophy involving the shoulder musculature	2273	FHL1	OMIM:300695
HP:0001465	Amyotrophy involving the shoulder musculature	4000	LMNA	OMIM:181350
HP:0001465	Amyotrophy involving the shoulder musculature	825	CAPN3	ORPHA:267
HP:0001465	Amyotrophy involving the shoulder musculature	2218	FKTN	OMIM:611588
HP:0001465	Amyotrophy involving the shoulder musculature	59341	TRPV4	OMIM:181405
HP:0001466	Contiguous gene syndrome	6208	RPS14	OMIM:153550
HP:0001466	Contiguous gene syndrome	284058	KANSL1	OMIM:610443
HP:0001466	Contiguous gene syndrome	5080	PAX6	OMIM:194072
HP:0001466	Contiguous gene syndrome	7490	WT1	OMIM:194072
HP:0001467	Aplasia/Hypoplasia involving the musculature of the upper limbs	2316	FLNA	ORPHA:1826
HP:0001467	Aplasia/Hypoplasia involving the musculature of the upper limbs	6885	MAP3K7	ORPHA:1826
HP:0001467	Aplasia/Hypoplasia involving the musculature of the upper limbs	9939	RBM8A	OMIM:274000
HP:0001467	Aplasia/Hypoplasia involving the musculature of the upper limbs	57167	SALL4	OMIM:607323
HP:0001467	Aplasia/Hypoplasia involving the musculature of the upper limbs	4010	LMX1B	OMIM:161200
HP:0001467	Aplasia/Hypoplasia involving the musculature of the upper limbs	6910	TBX5	OMIM:142900
HP:0001468	Aplasia/Hypoplasia involving the musculature of the upper arm	4010	LMX1B	OMIM:161200
HP:0001469	Abnormal morphology of the pelvis musculature	22954	TRIM32	OMIM:254110
HP:0001469	Abnormal morphology of the pelvis musculature	7415	VCP	OMIM:167320
HP:0001469	Abnormal morphology of the pelvis musculature	6443	SGCB	OMIM:604286
HP:0001469	Abnormal morphology of the pelvis musculature	4000	LMNA	ORPHA:98856
HP:0001469	Abnormal morphology of the pelvis musculature	203859	ANO5	ORPHA:206549
HP:0007850	Retinal vascular proliferation	8517	IKBKG	ORPHA:464
HP:0007850	Retinal vascular proliferation	8517	IKBKG	OMIM:308300
HP:0007850	Retinal vascular proliferation	4763	NF1	ORPHA:97685
HP:0007854	Glaucomatous visual field defect	2202	EFEMP1	ORPHA:98977
HP:0007854	Glaucomatous visual field defect	1545	CYP1B1	ORPHA:98977
HP:0007854	Glaucomatous visual field defect	4653	MYOC	ORPHA:98977
HP:0007854	Glaucomatous visual field defect	136371	ASB10	OMIM:603383
HP:0007856	Punctate opacification of the cornea	285440	CYP4V2	ORPHA:41751
HP:0007856	Punctate opacification of the cornea	29914	UBIAD1	OMIM:121800
HP:0007856	Punctate opacification of the cornea	3859	KRT12	OMIM:122100
HP:0007856	Punctate opacification of the cornea	4166	CHST6	ORPHA:98969
HP:0007856	Punctate opacification of the cornea	4166	CHST6	OMIM:217800
HP:0007856	Punctate opacification of the cornea	5696	PSMB8	OMIM:256040
HP:0001470	Sex-limited expression	344018	FIGLA	OMIM:612310
HP:0001470	Sex-limited expression	3973	LHCGR	OMIM:176410
HP:0001470	Sex-limited expression	2516	NR5A1	OMIM:612964
HP:0001470	Sex-limited expression	2516	NR5A1	OMIM:612965
HP:0001470	Sex-limited expression	79983	POF1B	OMIM:300604
HP:0001471	Aplasia/Hypoplasia of the musculature of the pelvis	22954	TRIM32	OMIM:254110
HP:0001471	Aplasia/Hypoplasia of the musculature of the pelvis	7415	VCP	OMIM:167320
HP:0001471	Aplasia/Hypoplasia of the musculature of the pelvis	6443	SGCB	OMIM:604286
HP:0001471	Aplasia/Hypoplasia of the musculature of the pelvis	4000	LMNA	ORPHA:98856
HP:0001471	Aplasia/Hypoplasia of the musculature of the pelvis	203859	ANO5	ORPHA:206549
HP:0001473	Metatarsal osteolysis	9935	MAFB	OMIM:166300
HP:0001473	Metatarsal osteolysis	4313	MMP2	OMIM:259600
HP:0001474	Sclerotic scapulae	23592	LEMD3	ORPHA:166119
HP:0001474	Sclerotic scapulae	50964	SOST	OMIM:269500
HP:0001476	Delayed closure of the anterior fontanelle	139285	AMER1	OMIM:300373
HP:0001476	Delayed closure of the anterior fontanelle	6197	RPS6KA3	OMIM:303600
HP:0001476	Delayed closure of the anterior fontanelle	443	ASPA	OMIM:271900
HP:0001476	Delayed closure of the anterior fontanelle	6905	TBCE	OMIM:244460
HP:0001476	Delayed closure of the anterior fontanelle	9759	HDAC4	OMIM:619797
HP:0001476	Delayed closure of the anterior fontanelle	23545	ATP6V0A2	ORPHA:357074
HP:0001476	Delayed closure of the anterior fontanelle	23545	ATP6V0A2	ORPHA:2834
HP:0001476	Delayed closure of the anterior fontanelle	23545	ATP6V0A2	OMIM:278250
HP:0001476	Delayed closure of the anterior fontanelle	523	ATP6V1A	ORPHA:357074
HP:0001476	Delayed closure of the anterior fontanelle	529	ATP6V1E1	ORPHA:357074
HP:0001476	Delayed closure of the anterior fontanelle	54892	NCAPG2	OMIM:618460
HP:0001476	Delayed closure of the anterior fontanelle	84168	ANTXR1	OMIM:230740
HP:0001476	Delayed closure of the anterior fontanelle	8815	BANF1	OMIM:614008
HP:0001476	Delayed closure of the anterior fontanelle	5824	PEX19	OMIM:614886
HP:0001476	Delayed closure of the anterior fontanelle	5195	PEX14	OMIM:614887
HP:0001476	Delayed closure of the anterior fontanelle	63901	FAM111A	OMIM:127000
HP:0001476	Delayed closure of the anterior fontanelle	11128	POLR3A	OMIM:264090
HP:0001476	Delayed closure of the anterior fontanelle	4313	MMP2	OMIM:259600
HP:0001476	Delayed closure of the anterior fontanelle	2887	GRB10	ORPHA:96182
HP:0001476	Delayed closure of the anterior fontanelle	3481	IGF2	ORPHA:231140
HP:0001476	Delayed closure of the anterior fontanelle	283120	H19	ORPHA:231140
HP:0001476	Delayed closure of the anterior fontanelle	10484	SEC23A	OMIM:607812
HP:0001476	Delayed closure of the anterior fontanelle	1277	COL1A1	OMIM:130060
HP:0001476	Delayed closure of the anterior fontanelle	9509	ADAMTS2	OMIM:225410
HP:0001476	Delayed closure of the anterior fontanelle	7543	ZFX	OMIM:301118
HP:0001476	Delayed closure of the anterior fontanelle	7545	ZIC1	OMIM:618736
HP:0001476	Delayed closure of the anterior fontanelle	114548	NLRP3	ORPHA:1451
HP:0001476	Delayed closure of the anterior fontanelle	2316	FLNA	OMIM:311300
HP:0001476	Delayed closure of the anterior fontanelle	2316	FLNA	OMIM:304120
HP:0001476	Delayed closure of the anterior fontanelle	9968	MED12	OMIM:305450
HP:0001476	Delayed closure of the anterior fontanelle	9126	SMC3	OMIM:610759
HP:0001476	Delayed closure of the anterior fontanelle	1513	CTSK	ORPHA:763
HP:0001476	Delayed closure of the anterior fontanelle	1513	CTSK	OMIM:265800
HP:0001476	Delayed closure of the anterior fontanelle	5828	PEX2	OMIM:614866
HP:0001476	Delayed closure of the anterior fontanelle	29123	ANKRD11	ORPHA:2332
HP:0001476	Delayed closure of the anterior fontanelle	54543	TOMM7	OMIM:620601
HP:0001476	Delayed closure of the anterior fontanelle	860	RUNX2	OMIM:119600
HP:0001476	Delayed closure of the anterior fontanelle	2688	GH1	OMIM:262400
HP:0001476	Delayed closure of the anterior fontanelle	538	ATP7A	OMIM:304150
HP:0001476	Delayed closure of the anterior fontanelle	29940	DSE	OMIM:615539
HP:0001477	Compensatory chin elevation	55605	KIF21A	ORPHA:45358
HP:0001477	Compensatory chin elevation	55605	KIF21A	OMIM:135700
HP:0001477	Compensatory chin elevation	347733	TUBB2B	ORPHA:45358
HP:0001477	Compensatory chin elevation	7846	TUBA1A	ORPHA:45358
HP:0001477	Compensatory chin elevation	401	PHOX2A	ORPHA:45358
HP:0001477	Compensatory chin elevation	10381	TUBB3	ORPHA:45358
HP:0001477	Compensatory chin elevation	10381	TUBB3	OMIM:600638
HP:0001477	Compensatory chin elevation	84570	COL25A1	ORPHA:45358
HP:0001480	Freckling	2956	MSH6	OMIM:619097
HP:0001480	Freckling	4292	MLH1	OMIM:276300
HP:0001480	Freckling	4771	NF2	OMIM:101000
HP:0001480	Freckling	54345	SOX18	OMIM:137940
HP:0001480	Freckling	5573	PRKAR1A	OMIM:160980
HP:0001480	Freckling	4763	NF1	OMIM:162200
HP:0001480	Freckling	4763	NF1	OMIM:162210
HP:0001480	Freckling	4763	NF1	ORPHA:97685
HP:0001480	Freckling	2074	ERCC6	OMIM:600630
HP:0001480	Freckling	2072	ERCC4	OMIM:278760
HP:0001480	Freckling	2072	ERCC4	ORPHA:910
HP:0001480	Freckling	1161	ERCC8	OMIM:614621
HP:0001480	Freckling	57654	UVSSA	OMIM:614640
HP:0001480	Freckling	161742	SPRED1	OMIM:611431
HP:0001480	Freckling	7994	KAT6A	OMIM:616268
HP:0001480	Freckling	3257	HPS1	OMIM:203300
HP:0001480	Freckling	4683	NBN	ORPHA:647
HP:0001480	Freckling	7508	XPC	OMIM:278720
HP:0001480	Freckling	7508	XPC	ORPHA:910
HP:0001480	Freckling	5781	PTPN11	ORPHA:500
HP:0001480	Freckling	673	BRAF	ORPHA:500
HP:0001480	Freckling	5894	RAF1	ORPHA:500
HP:0001480	Freckling	8943	AP3D1	ORPHA:54
HP:0001480	Freckling	4935	GPR143	ORPHA:54
HP:0001480	Freckling	2068	ERCC2	OMIM:601675
HP:0001480	Freckling	2068	ERCC2	ORPHA:910
HP:0001480	Freckling	10058	ABCB6	ORPHA:241
HP:0001480	Freckling	8626	TP63	ORPHA:69085
HP:0001480	Freckling	8626	TP63	ORPHA:978
HP:0001480	Freckling	8626	TP63	OMIM:103285
HP:0001480	Freckling	23328	SASH1	OMIM:618373
HP:0001480	Freckling	1001	CDH3	ORPHA:1573
HP:0001480	Freckling	2071	ERCC3	OMIM:610651
HP:0001480	Freckling	2071	ERCC3	ORPHA:910
HP:0001480	Freckling	5500	PPP1CB	OMIM:617506
HP:0001480	Freckling	8314	BAP1	ORPHA:618
HP:0001480	Freckling	4286	MITF	ORPHA:618
HP:0001480	Freckling	1019	CDK4	ORPHA:618
HP:0001480	Freckling	4255	MGMT	ORPHA:618
HP:0001480	Freckling	54386	TERF2IP	ORPHA:618
HP:0001480	Freckling	4157	MC1R	ORPHA:618
HP:0001480	Freckling	4157	MC1R	ORPHA:79432
HP:0001480	Freckling	65057	ACD	ORPHA:618
HP:0001480	Freckling	1029	CDKN2A	ORPHA:618
HP:0001480	Freckling	7015	TERT	ORPHA:618
HP:0001480	Freckling	25913	POT1	ORPHA:618
HP:0001480	Freckling	1030	CDKN2B	ORPHA:618
HP:0001480	Freckling	7299	TYR	ORPHA:79431
HP:0001480	Freckling	7299	TYR	ORPHA:79434
HP:0001480	Freckling	4948	OCA2	ORPHA:79432
HP:0001480	Freckling	7306	TYRP1	ORPHA:79433
HP:0001480	Freckling	7507	XPA	ORPHA:910
HP:0001480	Freckling	1643	DDB2	ORPHA:910
HP:0001480	Freckling	2073	ERCC5	ORPHA:910
HP:0001480	Freckling	56983	POGLUT1	ORPHA:79145
HP:0001480	Freckling	3852	KRT5	ORPHA:79145
HP:0001480	Freckling	23509	POFUT1	ORPHA:79145
HP:0001480	Freckling	55851	PSENEN	ORPHA:79145
HP:0000964	Eczematoid dermatitis	435	ASL	ORPHA:23
HP:0000964	Eczematoid dermatitis	8036	SHOC2	OMIM:607721
HP:0000964	Eczematoid dermatitis	2235	FECH	OMIM:177000
HP:0000964	Eczematoid dermatitis	2235	FECH	ORPHA:79278
HP:0000964	Eczematoid dermatitis	26960	NBEA	OMIM:619157
HP:0000964	Eczematoid dermatitis	1493	CTLA4	ORPHA:436159
HP:0000964	Eczematoid dermatitis	1493	CTLA4	OMIM:616100
HP:0000964	Eczematoid dermatitis	1493	CTLA4	ORPHA:2584
HP:0000964	Eczematoid dermatitis	4688	NCF2	OMIM:233710
HP:0000964	Eczematoid dermatitis	4688	NCF2	ORPHA:379
HP:0000964	Eczematoid dermatitis	6016	RIT1	OMIM:615355
HP:0000964	Eczematoid dermatitis	6777	STAT5B	OMIM:618985
HP:0000964	Eczematoid dermatitis	5238	PGM3	ORPHA:443811
HP:0000964	Eczematoid dermatitis	5238	PGM3	OMIM:615816
HP:0000964	Eczematoid dermatitis	9759	HDAC4	ORPHA:1001
HP:0000964	Eczematoid dermatitis	9759	HDAC4	OMIM:600430
HP:0000964	Eczematoid dermatitis	57122	NUP107	OMIM:618348
HP:0000964	Eczematoid dermatitis	100151683	RNU4ATAC	ORPHA:353298
HP:0000964	Eczematoid dermatitis	100151683	RNU4ATAC	OMIM:616651
HP:0000964	Eczematoid dermatitis	3119	HLA-DQB1	ORPHA:703
HP:0000964	Eczematoid dermatitis	3119	HLA-DQB1	OMIM:212750
HP:0000964	Eczematoid dermatitis	3123	HLA-DRB1	ORPHA:703
HP:0000964	Eczematoid dermatitis	2767	GNA11	ORPHA:428
HP:0000964	Eczematoid dermatitis	846	CASR	ORPHA:428
HP:0000964	Eczematoid dermatitis	50943	FOXP3	OMIM:304790
HP:0000964	Eczematoid dermatitis	50943	FOXP3	ORPHA:37042
HP:0000964	Eczematoid dermatitis	3248	HPGD	ORPHA:1525
HP:0000964	Eczematoid dermatitis	3248	HPGD	ORPHA:2796
HP:0000964	Eczematoid dermatitis	3248	HPGD	OMIM:259100
HP:0000964	Eczematoid dermatitis	5604	MAP2K1	ORPHA:389
HP:0000964	Eczematoid dermatitis	4893	NRAS	ORPHA:389
HP:0000964	Eczematoid dermatitis	673	BRAF	ORPHA:389
HP:0000964	Eczematoid dermatitis	114803	MYSM1	ORPHA:508542
HP:0000964	Eczematoid dermatitis	114803	MYSM1	OMIM:618116
HP:0000964	Eczematoid dermatitis	4522	MTHFD1	OMIM:617780
HP:0000964	Eczematoid dermatitis	3021	H3-3B	OMIM:619721
HP:0000964	Eczematoid dermatitis	5184	PEPD	OMIM:170100
HP:0000964	Eczematoid dermatitis	841	CASP8	OMIM:607271
HP:0000964	Eczematoid dermatitis	79644	SRD5A3	OMIM:612379
HP:0000964	Eczematoid dermatitis	5053	PAH	OMIM:261600
HP:0000964	Eczematoid dermatitis	5053	PAH	ORPHA:79254
HP:0000964	Eczematoid dermatitis	8456	FOXN1	ORPHA:83471
HP:0000964	Eczematoid dermatitis	8626	TP63	OMIM:103285
HP:0000964	Eczematoid dermatitis	9837	GINS1	OMIM:617827
HP:0000964	Eczematoid dermatitis	1536	CYBB	ORPHA:379
HP:0000964	Eczematoid dermatitis	1536	CYBB	OMIM:306400
HP:0000964	Eczematoid dermatitis	1535	CYBA	ORPHA:379
HP:0000964	Eczematoid dermatitis	1535	CYBA	OMIM:233690
HP:0000964	Eczematoid dermatitis	4689	NCF4	ORPHA:379
HP:0000964	Eczematoid dermatitis	653361	NCF1	ORPHA:379
HP:0000964	Eczematoid dermatitis	653361	NCF1	OMIM:233700
HP:0000964	Eczematoid dermatitis	79415	CYBC1	ORPHA:379
HP:0000964	Eczematoid dermatitis	79415	CYBC1	OMIM:618935
HP:0000964	Eczematoid dermatitis	134218	DNAJC21	ORPHA:811
HP:0000964	Eczematoid dermatitis	134218	DNAJC21	OMIM:617052
HP:0000964	Eczematoid dermatitis	79631	EFL1	ORPHA:811
HP:0000964	Eczematoid dermatitis	51119	SBDS	ORPHA:811
HP:0000964	Eczematoid dermatitis	7175	TPR	OMIM:620393
HP:0000964	Eczematoid dermatitis	7535	ZAP70	OMIM:269840
HP:0000964	Eczematoid dermatitis	16	AARS1	OMIM:619691
HP:0000964	Eczematoid dermatitis	16	AARS1	ORPHA:33364
HP:0000964	Eczematoid dermatitis	7454	WAS	OMIM:300299
HP:0000964	Eczematoid dermatitis	7454	WAS	OMIM:301000
HP:0000964	Eczematoid dermatitis	7454	WAS	ORPHA:906
HP:0000964	Eczematoid dermatitis	7454	WAS	OMIM:313900
HP:0000964	Eczematoid dermatitis	1896	EDA	OMIM:305100
HP:0000964	Eczematoid dermatitis	7780	SLC30A2	OMIM:608118
HP:0000964	Eczematoid dermatitis	51360	MBTPS2	ORPHA:2273
HP:0000964	Eczematoid dermatitis	51360	MBTPS2	OMIM:308205
HP:0000964	Eczematoid dermatitis	6772	STAT1	OMIM:614162
HP:0000964	Eczematoid dermatitis	6772	STAT1	ORPHA:391487
HP:0000964	Eczematoid dermatitis	284058	KANSL1	ORPHA:363958
HP:0000964	Eczematoid dermatitis	284058	KANSL1	ORPHA:363965
HP:0000964	Eczematoid dermatitis	284058	KANSL1	OMIM:610443
HP:0000964	Eczematoid dermatitis	7922	SLC39A7	OMIM:619693
HP:0000964	Eczematoid dermatitis	6601	SMARCC2	OMIM:618362
HP:0000964	Eczematoid dermatitis	54496	PRMT7	OMIM:617157
HP:0000964	Eczematoid dermatitis	54496	PRMT7	ORPHA:464288
HP:0000964	Eczematoid dermatitis	8260	NAA10	OMIM:300855
HP:0000964	Eczematoid dermatitis	6774	STAT3	ORPHA:2314
HP:0000964	Eczematoid dermatitis	6774	STAT3	OMIM:615952
HP:0000964	Eczematoid dermatitis	6774	STAT3	OMIM:147060
HP:0000964	Eczematoid dermatitis	816	CAMK2B	OMIM:617799
HP:0000964	Eczematoid dermatitis	10616	RBCK1	OMIM:615895
HP:0000964	Eczematoid dermatitis	3572	IL6ST	OMIM:618523
HP:0000964	Eczematoid dermatitis	3572	IL6ST	OMIM:619751
HP:0000964	Eczematoid dermatitis	686	BTD	ORPHA:79241
HP:0000964	Eczematoid dermatitis	3117	HLA-DQA1	OMIM:212750
HP:0000964	Eczematoid dermatitis	3141	HLCS	ORPHA:79242
HP:0000964	Eczematoid dermatitis	10092	ARPC5	OMIM:620565
HP:0000964	Eczematoid dermatitis	6578	SLCO2A1	ORPHA:2796
HP:0000964	Eczematoid dermatitis	6821	SUOX	OMIM:272300
HP:0000964	Eczematoid dermatitis	5095	PCCA	OMIM:606054
HP:0000964	Eczematoid dermatitis	5096	PCCB	OMIM:606054
HP:0000964	Eczematoid dermatitis	1717	DHCR7	OMIM:270400
HP:0000964	Eczematoid dermatitis	64127	NOD2	OMIM:186580
HP:0000964	Eczematoid dermatitis	4478	MSN	OMIM:300988
HP:0000964	Eczematoid dermatitis	26053	AUTS2	ORPHA:352490
HP:0000964	Eczematoid dermatitis	51428	DDX41	OMIM:616871
HP:0000964	Eczematoid dermatitis	146206	CARMIL2	OMIM:618131
HP:0000964	Eczematoid dermatitis	2313	FLI1	OMIM:617443
HP:0000964	Eczematoid dermatitis	2313	FLI1	ORPHA:2308
HP:0000964	Eczematoid dermatitis	93627	TBCK	ORPHA:488632
HP:0000964	Eczematoid dermatitis	267010	RNU12	ORPHA:85199
HP:0000964	Eczematoid dermatitis	1474	CST6	OMIM:618535
HP:0000964	Eczematoid dermatitis	25942	SIN3A	OMIM:613406
HP:0000964	Eczematoid dermatitis	8517	IKBKG	ORPHA:98813
HP:0000964	Eczematoid dermatitis	4792	NFKBIA	ORPHA:98813
HP:0000964	Eczematoid dermatitis	91039	DPP9	OMIM:620331
HP:0000964	Eczematoid dermatitis	64864	RFX7	OMIM:620330
HP:0000964	Eczematoid dermatitis	3981	LIG4	ORPHA:235
HP:0000964	Eczematoid dermatitis	54888	NSUN2	ORPHA:235
HP:0000964	Eczematoid dermatitis	54888	NSUN2	OMIM:611091
HP:0000964	Eczematoid dermatitis	10043	TOM1	OMIM:619510
HP:0000964	Eczematoid dermatitis	10526	IPO8	OMIM:619472
HP:0000964	Eczematoid dermatitis	54914	FOCAD	OMIM:619991
HP:0000964	Eczematoid dermatitis	126695	KDF1	OMIM:617337
HP:0000964	Eczematoid dermatitis	126695	KDF1	ORPHA:1810
HP:0000964	Eczematoid dermatitis	7456	WIPF1	ORPHA:906
HP:0000964	Eczematoid dermatitis	7456	WIPF1	OMIM:614493
HP:0000964	Eczematoid dermatitis	3575	IL7R	OMIM:608971
HP:0000964	Eczematoid dermatitis	25914	RTTN	ORPHA:468631
HP:0000964	Eczematoid dermatitis	2312	FLG	OMIM:146700
HP:0000964	Eczematoid dermatitis	55719	SLF2	OMIM:620184
HP:0000964	Eczematoid dermatitis	79092	CARD14	ORPHA:2897
HP:0000964	Eczematoid dermatitis	283209	PGM2L1	OMIM:620191
HP:0000964	Eczematoid dermatitis	6595	SMARCA2	ORPHA:3051
HP:0000964	Eczematoid dermatitis	6595	SMARCA2	OMIM:601358
HP:0000964	Eczematoid dermatitis	6872	TAF1	OMIM:300966
HP:0000964	Eczematoid dermatitis	11005	SPINK5	OMIM:256500
HP:0000964	Eczematoid dermatitis	11005	SPINK5	ORPHA:634
HP:0000964	Eczematoid dermatitis	51816	ADA2	OMIM:615688
HP:0000964	Eczematoid dermatitis	55072	RNF31	OMIM:620632
HP:0000964	Eczematoid dermatitis	5294	PIK3CG	OMIM:619802
HP:0000964	Eczematoid dermatitis	917	CD3G	OMIM:615607
HP:0000964	Eczematoid dermatitis	84905	ZNF341	OMIM:618282
HP:0000964	Eczematoid dermatitis	23387	SIK3	OMIM:618162
HP:0000964	Eczematoid dermatitis	3978	LIG1	OMIM:619774
HP:0000964	Eczematoid dermatitis	5879	RAC1	OMIM:617751
HP:0000964	Eczematoid dermatitis	5879	RAC1	ORPHA:500159
HP:0000964	Eczematoid dermatitis	2678	GGT1	OMIM:231950
HP:0000964	Eczematoid dermatitis	203190	LGI3	OMIM:620007
HP:0000964	Eczematoid dermatitis	3930	LBR	OMIM:169400
HP:0000964	Eczematoid dermatitis	23765	IL17RA	OMIM:613953
HP:0000964	Eczematoid dermatitis	4733	DRG1	OMIM:620641
HP:0000964	Eczematoid dermatitis	404672	GTF2H5	ORPHA:33364
HP:0000964	Eczematoid dermatitis	833	CARS1	ORPHA:33364
HP:0000964	Eczematoid dermatitis	2068	ERCC2	ORPHA:33364
HP:0000964	Eczematoid dermatitis	7737	RNF113A	ORPHA:33364
HP:0000964	Eczematoid dermatitis	136647	MPLKIP	ORPHA:33364
HP:0000964	Eczematoid dermatitis	6897	TARS1	ORPHA:33364
HP:0000964	Eczematoid dermatitis	2071	ERCC3	ORPHA:33364
HP:0000964	Eczematoid dermatitis	2961	GTF2E2	ORPHA:33364
HP:0000964	Eczematoid dermatitis	9526	MPDU1	ORPHA:79323
HP:0000964	Eczematoid dermatitis	9333	TGM5	ORPHA:263534
HP:0000964	Eczematoid dermatitis	1475	CSTA	ORPHA:263534
HP:0000964	Eczematoid dermatitis	81704	DOCK8	OMIM:243700
HP:0000964	Eczematoid dermatitis	55181	SMG8	OMIM:619268
HP:0000964	Eczematoid dermatitis	56160	NSMCE3	OMIM:617241
HP:0000964	Eczematoid dermatitis	5426	POLE	OMIM:618336
HP:0000964	Eczematoid dermatitis	8216	LZTR1	OMIM:605275
HP:0000964	Eczematoid dermatitis	940	CD28	ORPHA:2584
HP:0000964	Eczematoid dermatitis	7133	TNFRSF1B	ORPHA:2584
HP:0000964	Eczematoid dermatitis	3559	IL2RA	OMIM:606367
HP:0000964	Eczematoid dermatitis	7189	TRAF6	ORPHA:1810
HP:0000964	Eczematoid dermatitis	128178	EDARADD	ORPHA:1810
HP:0000964	Eczematoid dermatitis	10913	EDAR	ORPHA:1810
HP:0000964	Eczematoid dermatitis	2615	LRRC32	OMIM:619074
HP:0000964	Eczematoid dermatitis	388698	FLG2	OMIM:618084
HP:0000964	Eczematoid dermatitis	3735	KARS1	ORPHA:3240
HP:0000964	Eczematoid dermatitis	91754	NEK9	OMIM:614262
HP:0000964	Eczematoid dermatitis	1041	CDSN	ORPHA:90368
HP:0000964	Eczematoid dermatitis	121391	KRT74	ORPHA:90368
HP:0000964	Eczematoid dermatitis	5818	NECTIN1	OMIM:225060
HP:0000964	Eczematoid dermatitis	6573	SLC19A1	OMIM:620603
HP:0000964	Eczematoid dermatitis	84433	CARD11	OMIM:617638
HP:0000964	Eczematoid dermatitis	22800	RRAS2	OMIM:618624
HP:0000964	Eczematoid dermatitis	3570	IL6R	OMIM:618944
HP:0000964	Eczematoid dermatitis	5498	PPOX	OMIM:620483
HP:0000964	Eczematoid dermatitis	10060	ABCC9	OMIM:619719
HP:0000964	Eczematoid dermatitis	3514	IGKC	ORPHA:183675
HP:0000964	Eczematoid dermatitis	3501	IGHG2	ORPHA:183675
HP:0000964	Eczematoid dermatitis	55806	HR	ORPHA:701
HP:0000964	Eczematoid dermatitis	1080	CFTR	ORPHA:498359
HP:0000964	Eczematoid dermatitis	10847	SRCAP	OMIM:136140
HP:0000964	Eczematoid dermatitis	6340	SCNN1G	ORPHA:171876
HP:0000964	Eczematoid dermatitis	6337	SCNN1A	ORPHA:171876
HP:0000964	Eczematoid dermatitis	6338	SCNN1B	ORPHA:171876
HP:0000964	Eczematoid dermatitis	23102	TBC1D2B	ORPHA:397973
HP:0000964	Eczematoid dermatitis	3848	KRT1	ORPHA:530838
HP:0000964	Eczematoid dermatitis	3313	HSPA9	OMIM:616854
HP:0000964	Eczematoid dermatitis	22880	MORC2	ORPHA:466768
HP:0000964	Eczematoid dermatitis	64135	IFIH1	OMIM:615846
HP:0000964	Eczematoid dermatitis	2783	GNB2	OMIM:619503
HP:0000964	Eczematoid dermatitis	3716	JAK1	OMIM:618999
HP:0000964	Eczematoid dermatitis	6778	STAT6	OMIM:620532
HP:0000964	Eczematoid dermatitis	4067	LYN	OMIM:620376
HP:0000964	Eczematoid dermatitis	5290	PIK3CA	ORPHA:276280
HP:0000964	Eczematoid dermatitis	79755	ZNF750	OMIM:610227
HP:0000964	Eczematoid dermatitis	64087	MCCC2	OMIM:210210
HP:0000964	Eczematoid dermatitis	9939	RBM8A	OMIM:274000
HP:0000964	Eczematoid dermatitis	1312	COMT	ORPHA:567
HP:0000964	Eczematoid dermatitis	221037	JMJD1C	ORPHA:567
HP:0000964	Eczematoid dermatitis	2812	GP1BB	ORPHA:567
HP:0000964	Eczematoid dermatitis	6239	RREB1	ORPHA:567
HP:0000964	Eczematoid dermatitis	6899	TBX1	ORPHA:567
HP:0000964	Eczematoid dermatitis	6899	TBX1	OMIM:188400
HP:0000964	Eczematoid dermatitis	7290	HIRA	ORPHA:567
HP:0000964	Eczematoid dermatitis	9632	SEC24C	ORPHA:567
HP:0000964	Eczematoid dermatitis	7353	UFD1	ORPHA:567
HP:0000964	Eczematoid dermatitis	421	ARVCF	ORPHA:567
HP:0000964	Eczematoid dermatitis	83550	GPR101	ORPHA:963
HP:0000964	Eczematoid dermatitis	9049	AIP	ORPHA:963
HP:0000964	Eczematoid dermatitis	11322	TMC6	ORPHA:302
HP:0000964	Eczematoid dermatitis	3574	IL7	ORPHA:302
HP:0000964	Eczematoid dermatitis	147138	TMC8	ORPHA:302
HP:0000964	Eczematoid dermatitis	10519	CIB1	ORPHA:302
HP:0000964	Eczematoid dermatitis	5277	PIGA	OMIM:300868
HP:0000964	Eczematoid dermatitis	5277	PIGA	OMIM:301072
HP:0000964	Eczematoid dermatitis	10758	TRAF3IP2	OMIM:615527
HP:0000964	Eczematoid dermatitis	7086	TKT	ORPHA:488618
HP:0000964	Eczematoid dermatitis	727	C5	OMIM:609536
HP:0001483	Eye poking	3000	GUCY2D	OMIM:204000
HP:0001483	Eye poking	3000	GUCY2D	ORPHA:65
HP:0001483	Eye poking	6121	RPE65	OMIM:204100
HP:0001483	Eye poking	6121	RPE65	ORPHA:65
HP:0001483	Eye poking	3769	KCNJ13	ORPHA:65
HP:0001483	Eye poking	343035	RD3	ORPHA:65
HP:0001483	Eye poking	145226	RDH12	ORPHA:65
HP:0001483	Eye poking	1406	CRX	ORPHA:65
HP:0001483	Eye poking	64802	NMNAT1	ORPHA:65
HP:0001483	Eye poking	64802	NMNAT1	OMIM:608553
HP:0001483	Eye poking	57096	RPGRIP1	ORPHA:65
HP:0001483	Eye poking	57096	RPGRIP1	OMIM:613826
HP:0001483	Eye poking	80184	CEP290	ORPHA:65
HP:0001483	Eye poking	10383	TUBB4B	ORPHA:65
HP:0001483	Eye poking	9742	IFT140	ORPHA:65
HP:0001483	Eye poking	85015	USP45	ORPHA:65
HP:0001483	Eye poking	23418	CRB1	ORPHA:65
HP:0001483	Eye poking	23418	CRB1	OMIM:613835
HP:0001483	Eye poking	5130	PCYT1A	ORPHA:65
HP:0001483	Eye poking	9657	IQCB1	ORPHA:65
HP:0001483	Eye poking	392255	GDF6	ORPHA:65
HP:0001483	Eye poking	23746	AIPL1	ORPHA:65
HP:0001483	Eye poking	9227	LRAT	ORPHA:65
HP:0001483	Eye poking	55812	SPATA7	ORPHA:65
HP:0001483	Eye poking	7287	TULP1	ORPHA:65
HP:0001483	Eye poking	7287	TULP1	OMIM:613843
HP:0001483	Eye poking	167691	LCA5	ORPHA:65
HP:0001483	Eye poking	3614	IMPDH1	ORPHA:65
HP:0001483	Eye poking	26834	RNU4-2	OMIM:620851
HP:0009926	Epiphora	7298	TYMS	OMIM:620040
HP:0009926	Epiphora	3123	HLA-DRB1	OMIM:181000
HP:0009926	Epiphora	26277	TINF2	OMIM:613990
HP:0009926	Epiphora	64218	SEMA4A	OMIM:610283
HP:0009926	Epiphora	55505	NOP10	OMIM:224230
HP:0009926	Epiphora	55651	NHP2	OMIM:224230
HP:0009926	Epiphora	114548	NLRP3	OMIM:148200
HP:0009926	Epiphora	4035	LRP1	OMIM:604093
HP:0009926	Epiphora	3850	KRT3	OMIM:618767
HP:0009926	Epiphora	1736	DKC1	OMIM:305000
HP:0009926	Epiphora	4693	NDP	ORPHA:91495
HP:0009926	Epiphora	220202	ATOH7	ORPHA:91495
HP:0009926	Epiphora	8322	FZD4	ORPHA:91495
HP:0009926	Epiphora	1308	COL17A1	ORPHA:293381
HP:0009926	Epiphora	1308	COL17A1	OMIM:122400
HP:0009926	Epiphora	2776	GNAQ	ORPHA:3205
HP:0009926	Epiphora	6720	SREBF1	OMIM:158310
HP:0009926	Epiphora	5621	PRNP	ORPHA:466
HP:0009926	Epiphora	5073	PARN	OMIM:616353
HP:0009926	Epiphora	3859	KRT12	OMIM:122100
HP:0009926	Epiphora	355	FAS	ORPHA:3437
HP:0009926	Epiphora	26191	PTPN22	ORPHA:3437
HP:0009926	Epiphora	58495	OVOL2	OMIM:122000
HP:0009926	Epiphora	2263	FGFR2	ORPHA:2363
HP:0009926	Epiphora	2261	FGFR3	ORPHA:2363
HP:0009926	Epiphora	2255	FGF10	ORPHA:2363
HP:0009926	Epiphora	6392	SDHD	ORPHA:100093
HP:0009926	Epiphora	1545	CYP1B1	ORPHA:98976
HP:0009926	Epiphora	4053	LTBP2	ORPHA:98976
HP:0009926	Epiphora	4653	MYOC	ORPHA:98976
HP:0009926	Epiphora	7010	TEK	ORPHA:98976
HP:0009926	Epiphora	23516	SLC39A14	OMIM:144755
HP:0009926	Epiphora	4070	TACSTD2	ORPHA:98957
HP:0009926	Epiphora	3321	IGSF3	OMIM:149700
HP:0001488	Bilateral ptosis	401	PHOX2A	OMIM:602078
HP:0001488	Bilateral ptosis	10059	DNM1L	ORPHA:330050
HP:0001488	Bilateral ptosis	1621	DBH	ORPHA:230
HP:0001488	Bilateral ptosis	23394	ADNP	ORPHA:404448
HP:0001488	Bilateral ptosis	23394	ADNP	OMIM:615873
HP:0001488	Bilateral ptosis	91452	ACBD5	OMIM:618863
HP:0001488	Bilateral ptosis	1182	CLCN3	OMIM:619512
HP:0001488	Bilateral ptosis	50484	RRM2B	ORPHA:329336
HP:0001488	Bilateral ptosis	246243	RNASEH1	ORPHA:329336
HP:0001488	Bilateral ptosis	246243	RNASEH1	OMIM:616479
HP:0001488	Bilateral ptosis	5885	RAD21	OMIM:614701
HP:0001488	Bilateral ptosis	5885	RAD21	OMIM:611376
HP:0001488	Bilateral ptosis	55628	ZNF407	OMIM:619557
HP:0001488	Bilateral ptosis	5428	POLG	OMIM:258450
HP:0001488	Bilateral ptosis	246329	STAC3	ORPHA:168572
HP:0001488	Bilateral ptosis	118987	PDZD8	OMIM:620021
HP:0001488	Bilateral ptosis	526	ATP6V1B2	ORPHA:79500
HP:0001488	Bilateral ptosis	57465	TBC1D24	ORPHA:79500
HP:0001488	Bilateral ptosis	55209	SETD5	ORPHA:404440
HP:0001488	Bilateral ptosis	5339	PLEC	ORPHA:254361
HP:0001488	Bilateral ptosis	4094	MAF	ORPHA:1272
HP:0001488	Bilateral ptosis	2934	GSN	ORPHA:85448
HP:0001488	Bilateral ptosis	9578	CDC42BPB	OMIM:619841
HP:0001488	Bilateral ptosis	6329	SCN4A	OMIM:614198
HP:0001488	Bilateral ptosis	6329	SCN4A	OMIM:620351
HP:0001488	Bilateral ptosis	4893	NRAS	OMIM:613224
HP:0001488	Bilateral ptosis	4953	ODC1	ORPHA:544488
HP:0001488	Bilateral ptosis	8292	COLQ	ORPHA:98915
HP:0001488	Bilateral ptosis	3913	LAMB2	ORPHA:98915
HP:0001488	Bilateral ptosis	55768	NGLY1	ORPHA:404454
HP:0001488	Bilateral ptosis	3767	KCNJ11	ORPHA:79134
HP:0001488	Bilateral ptosis	3767	KCNJ11	ORPHA:99885
HP:0001488	Bilateral ptosis	3767	KCNJ11	OMIM:618856
HP:0001488	Bilateral ptosis	79731	NARS2	ORPHA:79134
HP:0001488	Bilateral ptosis	6833	ABCC8	ORPHA:79134
HP:0001488	Bilateral ptosis	6833	ABCC8	ORPHA:99885
HP:0001488	Bilateral ptosis	5053	PAH	ORPHA:2209
HP:0001488	Bilateral ptosis	6774	STAT3	ORPHA:99885
HP:0001488	Bilateral ptosis	2645	GCK	ORPHA:99885
HP:0001488	Bilateral ptosis	3651	PDX1	ORPHA:99885
HP:0001488	Bilateral ptosis	3630	INS	ORPHA:99885
HP:0001488	Bilateral ptosis	3756	KCNH1	ORPHA:420561
HP:0001488	Bilateral ptosis	7298	TYMS	OMIM:620040
HP:0001488	Bilateral ptosis	1146	CHRNG	OMIM:265000
HP:0001488	Bilateral ptosis	347733	TUBB2B	ORPHA:467166
HP:0001488	Bilateral ptosis	7846	TUBA1A	ORPHA:467166
HP:0001488	Bilateral ptosis	10381	TUBB3	ORPHA:467166
HP:0001488	Bilateral ptosis	10381	TUBB3	ORPHA:300570
HP:0001488	Bilateral ptosis	7084	TK2	ORPHA:254875
HP:0001488	Bilateral ptosis	55605	KIF21A	OMIM:135700
HP:0001488	Bilateral ptosis	165	AEBP1	OMIM:618000
HP:0001488	Bilateral ptosis	165	AEBP1	ORPHA:536532
HP:0001488	Bilateral ptosis	8260	NAA10	OMIM:300855
HP:0001488	Bilateral ptosis	1716	DGUOK	ORPHA:329314
HP:0001488	Bilateral ptosis	29967	LRP12	OMIM:164310
HP:0001488	Bilateral ptosis	23479	ISCU	OMIM:255125
HP:0001488	Bilateral ptosis	1280	COL2A1	ORPHA:485
HP:0001488	Bilateral ptosis	2316	FLNA	ORPHA:555877
HP:0001488	Bilateral ptosis	10087	CERT1	OMIM:616351
HP:0001488	Bilateral ptosis	6261	RYR1	OMIM:619542
HP:0001488	Bilateral ptosis	23028	KDM1A	ORPHA:477993
HP:0001488	Bilateral ptosis	26053	AUTS2	ORPHA:352490
HP:0001488	Bilateral ptosis	5442	POLRMT	OMIM:619743
HP:0001488	Bilateral ptosis	5277	PIGA	OMIM:300868
HP:0001488	Bilateral ptosis	4858	NOVA2	OMIM:618859
HP:0001488	Bilateral ptosis	23384	SPECC1L	OMIM:145420
HP:0001488	Bilateral ptosis	55690	PACS1	ORPHA:329224
HP:0001488	Bilateral ptosis	55753	OGDHL	OMIM:619701
HP:0001488	Bilateral ptosis	3425	IDUA	OMIM:607014
HP:0001488	Bilateral ptosis	6654	SOS1	OMIM:610733
HP:0001488	Bilateral ptosis	78987	CRELD1	OMIM:620771
HP:0001488	Bilateral ptosis	7291	TWIST1	OMIM:180750
HP:0001488	Bilateral ptosis	5080	PAX6	OMIM:106210
HP:0001488	Bilateral ptosis	7490	WT1	OMIM:106210
HP:0001488	Bilateral ptosis	8085	KMT2D	OMIM:147920
HP:0001488	Bilateral ptosis	7403	KDM6A	OMIM:147920
HP:0001488	Bilateral ptosis	4976	OPA1	ORPHA:1215
HP:0001488	Bilateral ptosis	3479	IGF1	ORPHA:73272
HP:0001489	Posterior vitreous detachment	8322	FZD4	OMIM:133780
HP:0001489	Posterior vitreous detachment	4041	LRP5	OMIM:133780
HP:0001489	Posterior vitreous detachment	4041	LRP5	OMIM:601813
HP:0001489	Posterior vitreous detachment	79797	ZNF408	OMIM:616468
HP:0000523	Subcapsular cataract	8322	FZD4	OMIM:133780
HP:0000523	Subcapsular cataract	4041	LRP5	OMIM:133780
HP:0000523	Subcapsular cataract	4041	LRP5	OMIM:601813
HP:0000523	Subcapsular cataract	51099	ABHD5	ORPHA:98907
HP:0000523	Subcapsular cataract	51099	ABHD5	OMIM:275630
HP:0000523	Subcapsular cataract	26090	ABHD12	OMIM:612674
HP:0000523	Subcapsular cataract	10594	PRPF8	OMIM:600059
HP:0000523	Subcapsular cataract	1545	CYP1B1	ORPHA:708
HP:0000523	Subcapsular cataract	5080	PAX6	ORPHA:708
HP:0000523	Subcapsular cataract	2301	FOXE3	ORPHA:708
HP:0000523	Subcapsular cataract	5308	PITX2	ORPHA:708
HP:0000523	Subcapsular cataract	2296	FOXC1	ORPHA:708
HP:0000523	Subcapsular cataract	7840	ALMS1	OMIM:203800
HP:0000523	Subcapsular cataract	4942	OAT	ORPHA:414
HP:0000523	Subcapsular cataract	64132	XYLT2	OMIM:605822
HP:0000523	Subcapsular cataract	346007	EYS	OMIM:602772
HP:0000523	Subcapsular cataract	346007	EYS	ORPHA:791
HP:0000523	Subcapsular cataract	7287	TULP1	OMIM:600132
HP:0000523	Subcapsular cataract	7287	TULP1	ORPHA:791
HP:0000523	Subcapsular cataract	7287	TULP1	OMIM:613843
HP:0000523	Subcapsular cataract	92840	REEP6	ORPHA:791
HP:0000523	Subcapsular cataract	92840	REEP6	OMIM:617304
HP:0000523	Subcapsular cataract	6094	ROM1	ORPHA:791
HP:0000523	Subcapsular cataract	6017	RLBP1	ORPHA:791
HP:0000523	Subcapsular cataract	7401	CLRN1	ORPHA:791
HP:0000523	Subcapsular cataract	24	ABCA4	ORPHA:791
HP:0000523	Subcapsular cataract	130557	ZNF513	ORPHA:791
HP:0000523	Subcapsular cataract	582	BBS1	ORPHA:791
HP:0000523	Subcapsular cataract	92211	CDHR1	ORPHA:791
HP:0000523	Subcapsular cataract	23568	ARL2BP	ORPHA:791
HP:0000523	Subcapsular cataract	23568	ARL2BP	OMIM:615434
HP:0000523	Subcapsular cataract	6121	RPE65	ORPHA:791
HP:0000523	Subcapsular cataract	6121	RPE65	ORPHA:364055
HP:0000523	Subcapsular cataract	54806	AHI1	ORPHA:791
HP:0000523	Subcapsular cataract	6101	RP1	ORPHA:791
HP:0000523	Subcapsular cataract	3419	IDH3A	ORPHA:791
HP:0000523	Subcapsular cataract	4751	NEK2	ORPHA:791
HP:0000523	Subcapsular cataract	8100	IFT88	ORPHA:791
HP:0000523	Subcapsular cataract	23020	SNRNP200	ORPHA:791
HP:0000523	Subcapsular cataract	762	CA4	ORPHA:791
HP:0000523	Subcapsular cataract	138050	HGSNAT	ORPHA:791
HP:0000523	Subcapsular cataract	196	AHR	ORPHA:791
HP:0000523	Subcapsular cataract	3614	IMPDH1	ORPHA:791
HP:0000523	Subcapsular cataract	3614	IMPDH1	OMIM:180105
HP:0000523	Subcapsular cataract	123016	TTC8	ORPHA:791
HP:0000523	Subcapsular cataract	6103	RPGR	ORPHA:791
HP:0000523	Subcapsular cataract	1406	CRX	ORPHA:791
HP:0000523	Subcapsular cataract	5148	PDE6G	ORPHA:791
HP:0000523	Subcapsular cataract	26160	IFT172	ORPHA:791
HP:0000523	Subcapsular cataract	26121	PRPF31	ORPHA:791
HP:0000523	Subcapsular cataract	583	BBS2	ORPHA:791
HP:0000523	Subcapsular cataract	4117	MAK	ORPHA:791
HP:0000523	Subcapsular cataract	25794	FSCN2	ORPHA:791
HP:0000523	Subcapsular cataract	375298	CERKL	ORPHA:791
HP:0000523	Subcapsular cataract	3420	IDH3B	ORPHA:791
HP:0000523	Subcapsular cataract	3420	IDH3B	OMIM:612572
HP:0000523	Subcapsular cataract	57670	KIAA1549	ORPHA:791
HP:0000523	Subcapsular cataract	7275	TUB	ORPHA:791
HP:0000523	Subcapsular cataract	24148	PRPF6	ORPHA:791
HP:0000523	Subcapsular cataract	24148	PRPF6	OMIM:613983
HP:0000523	Subcapsular cataract	23418	CRB1	ORPHA:791
HP:0000523	Subcapsular cataract	10461	MERTK	ORPHA:791
HP:0000523	Subcapsular cataract	57709	SLC7A14	ORPHA:791
HP:0000523	Subcapsular cataract	768206	PRCD	ORPHA:791
HP:0000523	Subcapsular cataract	7399	USH2A	ORPHA:791
HP:0000523	Subcapsular cataract	23370	ARHGEF18	ORPHA:791
HP:0000523	Subcapsular cataract	5949	RBP3	ORPHA:791
HP:0000523	Subcapsular cataract	5949	RBP3	OMIM:615233
HP:0000523	Subcapsular cataract	6010	RHO	ORPHA:791
HP:0000523	Subcapsular cataract	6100	RP9	ORPHA:791
HP:0000523	Subcapsular cataract	10002	NR2E3	ORPHA:791
HP:0000523	Subcapsular cataract	10002	NR2E3	OMIM:611131
HP:0000523	Subcapsular cataract	9227	LRAT	ORPHA:791
HP:0000523	Subcapsular cataract	9227	LRAT	ORPHA:364055
HP:0000523	Subcapsular cataract	84140	FAM161A	ORPHA:791
HP:0000523	Subcapsular cataract	55812	SPATA7	ORPHA:791
HP:0000523	Subcapsular cataract	55812	SPATA7	ORPHA:364055
HP:0000523	Subcapsular cataract	55624	POMGNT1	ORPHA:791
HP:0000523	Subcapsular cataract	79797	ZNF408	ORPHA:791
HP:0000523	Subcapsular cataract	79797	ZNF408	OMIM:616469
HP:0000523	Subcapsular cataract	403	ARL3	ORPHA:791
HP:0000523	Subcapsular cataract	403	ARL3	OMIM:618173
HP:0000523	Subcapsular cataract	5145	PDE6A	ORPHA:791
HP:0000523	Subcapsular cataract	5145	PDE6A	OMIM:613810
HP:0000523	Subcapsular cataract	10210	TOPORS	ORPHA:791
HP:0000523	Subcapsular cataract	8842	PROM1	ORPHA:791
HP:0000523	Subcapsular cataract	9128	PRPF4	ORPHA:791
HP:0000523	Subcapsular cataract	145226	RDH12	ORPHA:791
HP:0000523	Subcapsular cataract	50939	IMPG2	ORPHA:791
HP:0000523	Subcapsular cataract	50939	IMPG2	OMIM:613581
HP:0000523	Subcapsular cataract	57545	CC2D2A	ORPHA:791
HP:0000523	Subcapsular cataract	8481	OFD1	ORPHA:791
HP:0000523	Subcapsular cataract	8481	OFD1	OMIM:300424
HP:0000523	Subcapsular cataract	49855	SCAPER	ORPHA:791
HP:0000523	Subcapsular cataract	49855	SCAPER	OMIM:618195
HP:0000523	Subcapsular cataract	9742	IFT140	ORPHA:791
HP:0000523	Subcapsular cataract	2979	GUCA1B	ORPHA:791
HP:0000523	Subcapsular cataract	1259	CNGA1	ORPHA:791
HP:0000523	Subcapsular cataract	1258	CNGB1	ORPHA:791
HP:0000523	Subcapsular cataract	60509	AGBL5	ORPHA:791
HP:0000523	Subcapsular cataract	5961	PRPH2	ORPHA:791
HP:0000523	Subcapsular cataract	388939	PCARE	ORPHA:791
HP:0000523	Subcapsular cataract	7439	BEST1	ORPHA:791
HP:0000523	Subcapsular cataract	9785	DHX38	ORPHA:791
HP:0000523	Subcapsular cataract	5995	RGR	ORPHA:791
HP:0000523	Subcapsular cataract	9129	PRPF3	ORPHA:791
HP:0000523	Subcapsular cataract	55975	KLHL7	ORPHA:791
HP:0000523	Subcapsular cataract	3617	IMPG1	ORPHA:791
HP:0000523	Subcapsular cataract	94137	RP1L1	ORPHA:791
HP:0000523	Subcapsular cataract	5158	PDE6B	ORPHA:791
HP:0000523	Subcapsular cataract	6102	RP2	ORPHA:791
HP:0000523	Subcapsular cataract	55857	KIZ	ORPHA:791
HP:0000523	Subcapsular cataract	64218	SEMA4A	ORPHA:791
HP:0000523	Subcapsular cataract	4901	NRL	ORPHA:791
HP:0000523	Subcapsular cataract	157657	CFAP418	ORPHA:791
HP:0000523	Subcapsular cataract	84100	ARL6	ORPHA:791
HP:0000523	Subcapsular cataract	6295	SAG	ORPHA:791
HP:0000523	Subcapsular cataract	79947	DHDDS	ORPHA:791
HP:0000523	Subcapsular cataract	2703	GJA8	OMIM:116200
HP:0000523	Subcapsular cataract	84265	POLR3GL	OMIM:619234
HP:0000523	Subcapsular cataract	80207	OPA3	ORPHA:67036
HP:0000523	Subcapsular cataract	83932	SPRTN	OMIM:616200
HP:0000523	Subcapsular cataract	57096	RPGRIP1	OMIM:608194
HP:0000523	Subcapsular cataract	57096	RPGRIP1	OMIM:613826
HP:0000523	Subcapsular cataract	170692	ADAMTS18	OMIM:615458
HP:0000523	Subcapsular cataract	7555	CNBP	ORPHA:606
HP:0000523	Subcapsular cataract	7555	CNBP	OMIM:602668
HP:0000523	Subcapsular cataract	128866	CHMP4B	OMIM:605387
HP:0000523	Subcapsular cataract	4796	TONSL	OMIM:271510
HP:0000523	Subcapsular cataract	167691	LCA5	ORPHA:364055
HP:0000523	Subcapsular cataract	1121	CHM	ORPHA:180
HP:0000523	Subcapsular cataract	755	CFAP410	OMIM:617547
HP:0000523	Subcapsular cataract	355	FAS	ORPHA:3437
HP:0000523	Subcapsular cataract	26191	PTPN22	ORPHA:3437
HP:0000523	Subcapsular cataract	146862	UNC45B	OMIM:616279
HP:0000523	Subcapsular cataract	129880	BBS5	OMIM:615983
HP:0000523	Subcapsular cataract	4771	NF2	ORPHA:637
HP:0000523	Subcapsular cataract	4771	NF2	OMIM:101000
HP:0000523	Subcapsular cataract	2512	FTL	OMIM:600886
HP:0000523	Subcapsular cataract	7490	WT1	OMIM:106210
HP:0000523	Subcapsular cataract	540	ATP7B	OMIM:277900
HP:0001491	Congenital fibrosis of extraocular muscles	347733	TUBB2B	OMIM:610031
HP:0001491	Congenital fibrosis of extraocular muscles	347733	TUBB2B	ORPHA:45358
HP:0001491	Congenital fibrosis of extraocular muscles	10381	TUBB3	ORPHA:300570
HP:0001491	Congenital fibrosis of extraocular muscles	10381	TUBB3	ORPHA:45358
HP:0001491	Congenital fibrosis of extraocular muscles	10381	TUBB3	OMIM:600638
HP:0001491	Congenital fibrosis of extraocular muscles	401	PHOX2A	OMIM:602078
HP:0001491	Congenital fibrosis of extraocular muscles	401	PHOX2A	ORPHA:45358
HP:0001491	Congenital fibrosis of extraocular muscles	55605	KIF21A	ORPHA:45358
HP:0001491	Congenital fibrosis of extraocular muscles	55605	KIF21A	OMIM:135700
HP:0001491	Congenital fibrosis of extraocular muscles	7846	TUBA1A	ORPHA:45358
HP:0001491	Congenital fibrosis of extraocular muscles	84570	COL25A1	ORPHA:45358
HP:0001492	Axenfeld anomaly	9839	ZEB2	ORPHA:261537
HP:0001492	Axenfeld anomaly	9839	ZEB2	ORPHA:261552
HP:0001492	Axenfeld anomaly	182	JAG1	OMIM:118450
HP:0001492	Axenfeld anomaly	2296	FOXC1	OMIM:601631
HP:0001492	Axenfeld anomaly	146167	SLC38A8	OMIM:609218
HP:0001493	Falciform retinal fold	23554	TSPAN12	OMIM:613310
HP:0001493	Falciform retinal fold	23554	TSPAN12	ORPHA:891
HP:0001493	Falciform retinal fold	8322	FZD4	OMIM:133780
HP:0001493	Falciform retinal fold	8322	FZD4	ORPHA:891
HP:0001493	Falciform retinal fold	4041	LRP5	OMIM:133780
HP:0001493	Falciform retinal fold	4041	LRP5	ORPHA:891
HP:0001493	Falciform retinal fold	4041	LRP5	OMIM:601813
HP:0001493	Falciform retinal fold	79797	ZNF408	OMIM:616468
HP:0001493	Falciform retinal fold	79797	ZNF408	ORPHA:891
HP:0001493	Falciform retinal fold	4693	NDP	ORPHA:891
HP:0001493	Falciform retinal fold	4693	NDP	OMIM:305390
HP:0001493	Falciform retinal fold	1499	CTNNB1	ORPHA:891
HP:0001495	Carpal osteolysis	4313	MMP2	ORPHA:371428
HP:0001495	Carpal osteolysis	4313	MMP2	OMIM:259600
HP:0001495	Carpal osteolysis	4323	MMP14	ORPHA:371428
HP:0001495	Carpal osteolysis	4323	MMP14	OMIM:277950
HP:0001495	Carpal osteolysis	9935	MAFB	OMIM:166300
HP:0001495	Carpal osteolysis	9935	MAFB	ORPHA:2774
HP:0001500	Broad finger	4810	NHS	OMIM:302350
HP:0001500	Broad finger	4882	NPR2	OMIM:602875
HP:0001500	Broad finger	6197	RPS6KA3	ORPHA:192
HP:0001500	Broad finger	1499	CTNNB1	OMIM:615075
HP:0001500	Broad finger	9578	CDC42BPB	OMIM:619841
HP:0001500	Broad finger	23126	POGZ	OMIM:616364
HP:0001500	Broad finger	80204	FBXO11	OMIM:618089
HP:0001500	Broad finger	9181	ARHGEF2	OMIM:617523
HP:0001500	Broad finger	93627	TBCK	ORPHA:488632
HP:0001500	Broad finger	93627	TBCK	OMIM:616900
HP:0001500	Broad finger	3248	HPGD	ORPHA:217059
HP:0001500	Broad finger	5593	PRKG2	OMIM:619636
HP:0001500	Broad finger	6792	CDKL5	ORPHA:1934
HP:0001500	Broad finger	3736	KCNA1	ORPHA:1934
HP:0001500	Broad finger	9091	PIGQ	ORPHA:1934
HP:0001500	Broad finger	140679	SLC32A1	ORPHA:1934
HP:0001500	Broad finger	2775	GNAO1	ORPHA:1934
HP:0001500	Broad finger	81603	TRIM8	ORPHA:1934
HP:0001500	Broad finger	2902	GRIN1	ORPHA:1934
HP:0001500	Broad finger	79751	SLC25A22	ORPHA:1934
HP:0001500	Broad finger	150094	SIK1	ORPHA:1934
HP:0001500	Broad finger	8573	CASK	ORPHA:1934
HP:0001500	Broad finger	23312	DMXL2	ORPHA:1934
HP:0001500	Broad finger	2917	GRM7	ORPHA:1934
HP:0001500	Broad finger	170302	ARX	ORPHA:1934
HP:0001500	Broad finger	11284	PNKP	ORPHA:1934
HP:0001500	Broad finger	6326	SCN2A	ORPHA:1934
HP:0001500	Broad finger	51227	PIGP	ORPHA:1934
HP:0001500	Broad finger	6324	SCN1B	ORPHA:1934
HP:0001500	Broad finger	4761	NEUROD2	ORPHA:1934
HP:0001500	Broad finger	64135	IFIH1	OMIM:182250
HP:0001500	Broad finger	7700	ZNF141	OMIM:615226
HP:0001500	Broad finger	2778	GNAS	ORPHA:79443
HP:0001500	Broad finger	2778	GNAS	ORPHA:79444
HP:0001500	Broad finger	3239	HOXD13	OMIM:113200
HP:0001500	Broad finger	2137	EXTL3	ORPHA:508533
HP:0001500	Broad finger	2200	FBN1	OMIM:608328
HP:0001500	Broad finger	2316	FLNA	OMIM:305620
HP:0001500	Broad finger	81794	ADAMTS10	OMIM:277600
HP:0001500	Broad finger	9949	AMMECR1	OMIM:300990
HP:0001500	Broad finger	9653	HS2ST1	OMIM:619194
HP:0001500	Broad finger	2239	GPC4	OMIM:301026
HP:0001500	Broad finger	2239	GPC4	ORPHA:2662
HP:0001500	Broad finger	3835	KIF22	OMIM:603546
HP:0001500	Broad finger	2033	EP300	OMIM:180849
HP:0001500	Broad finger	2033	EP300	ORPHA:353284
HP:0001500	Broad finger	1387	CREBBP	OMIM:180849
HP:0001500	Broad finger	1387	CREBBP	ORPHA:353277
HP:0001500	Broad finger	1387	CREBBP	ORPHA:353281
HP:0001500	Broad finger	100151683	RNU4ATAC	ORPHA:2636
HP:0001500	Broad finger	126792	B3GALT6	OMIM:609465
HP:0001500	Broad finger	126792	B3GALT6	OMIM:271640
HP:0001500	Broad finger	2317	FLNB	ORPHA:503
HP:0001500	Broad finger	55209	SETD5	ORPHA:404440
HP:0001500	Broad finger	55209	SETD5	OMIM:615761
HP:0001500	Broad finger	57459	GATAD2B	ORPHA:363686
HP:0001500	Broad finger	6595	SMARCA2	OMIM:601358
HP:0001500	Broad finger	6595	SMARCA2	ORPHA:3051
HP:0001500	Broad finger	633	BGN	OMIM:300989
HP:0001500	Broad finger	23404	EXOSC2	OMIM:617763
HP:0001500	Broad finger	57728	WDR19	OMIM:614378
HP:0001500	Broad finger	79971	WLS	OMIM:619648
HP:0001500	Broad finger	388015	RTL1	ORPHA:96334
HP:0001500	Broad finger	8788	DLK1	ORPHA:96334
HP:0001500	Broad finger	55384	MEG3	ORPHA:96334
HP:0001500	Broad finger	25871	NEPRO	OMIM:618853
HP:0001500	Broad finger	1300	COL10A1	OMIM:156500
HP:0001500	Broad finger	5293	PIK3CD	ORPHA:221139
HP:0001500	Broad finger	90417	KNSTRN	ORPHA:221139
HP:0001500	Broad finger	9469	CHST3	OMIM:245600
HP:0001500	Broad finger	26229	B3GAT3	OMIM:245600
HP:0001500	Broad finger	55764	IFT122	OMIM:218330
HP:0001500	Broad finger	7291	TWIST1	ORPHA:794
HP:0001500	Broad finger	7291	TWIST1	OMIM:180750
HP:0001500	Broad finger	2263	FGFR2	ORPHA:794
HP:0001500	Broad finger	2263	FGFR2	ORPHA:87
HP:0001500	Broad finger	2263	FGFR2	ORPHA:93260
HP:0001500	Broad finger	2263	FGFR2	ORPHA:93258
HP:0001500	Broad finger	2263	FGFR2	ORPHA:93259
HP:0001500	Broad finger	2263	FGFR2	OMIM:101600
HP:0001500	Broad finger	2263	FGFR2	OMIM:101200
HP:0001500	Broad finger	2261	FGFR3	ORPHA:794
HP:0001500	Broad finger	2261	FGFR3	OMIM:602849
HP:0001500	Broad finger	1280	COL2A1	OMIM:271700
HP:0001500	Broad finger	2737	GLI3	ORPHA:672
HP:0001500	Broad finger	2737	GLI3	ORPHA:380
HP:0001500	Broad finger	2737	GLI3	OMIM:175700
HP:0001500	Broad finger	2737	GLI3	OMIM:174200
HP:0001500	Broad finger	22827	PUF60	ORPHA:508498
HP:0001500	Broad finger	23394	ADNP	ORPHA:404448
HP:0001500	Broad finger	6910	TBX5	ORPHA:392
HP:0001500	Broad finger	6477	SIAH1	OMIM:619314
HP:0001500	Broad finger	10059	DNM1L	OMIM:614388
HP:0001500	Broad finger	6885	MAP3K7	OMIM:617137
HP:0001500	Broad finger	6885	MAP3K7	ORPHA:1826
HP:0001500	Broad finger	23314	SATB2	ORPHA:251028
HP:0001500	Broad finger	23314	SATB2	ORPHA:251019
HP:0001500	Broad finger	23314	SATB2	ORPHA:576283
HP:0001500	Broad finger	64327	LMBR1	OMIM:190605
HP:0001500	Broad finger	9241	NOG	OMIM:184460
HP:0001500	Broad finger	9241	NOG	ORPHA:3237
HP:0001500	Broad finger	6299	SALL1	OMIM:107480
HP:0001500	Broad finger	6299	SALL1	ORPHA:857
HP:0001500	Broad finger	10847	SRCAP	OMIM:136140
HP:0001500	Broad finger	650	BMP2	ORPHA:261295
HP:0001500	Broad finger	3020	H3-3A	OMIM:619720
HP:0001500	Broad finger	29998	BICRA	OMIM:619325
HP:0001500	Broad finger	3021	H3-3B	OMIM:619721
HP:0001500	Broad finger	4920	ROR2	OMIM:113000
HP:0001500	Broad finger	4920	ROR2	ORPHA:1507
HP:0001500	Broad finger	4920	ROR2	OMIM:268310
HP:0001500	Broad finger	1855	DVL1	OMIM:616331
HP:0001500	Broad finger	1855	DVL1	OMIM:180700
HP:0001500	Broad finger	473	RERE	OMIM:616975
HP:0001500	Broad finger	8239	USP9X	OMIM:300919
HP:0001500	Broad finger	176	ACAN	OMIM:612813
HP:0001500	Broad finger	176	ACAN	ORPHA:171866
HP:0001500	Broad finger	51132	RLIM	OMIM:300978
HP:0001500	Broad finger	64359	NXN	OMIM:618529
HP:0001500	Broad finger	64359	NXN	ORPHA:1507
HP:0001500	Broad finger	92579	G6PC3	OMIM:612541
HP:0001500	Broad finger	64131	XYLT1	OMIM:615777
HP:0001500	Broad finger	64131	XYLT1	ORPHA:370930
HP:0001500	Broad finger	29920	PYCR2	ORPHA:481152
HP:0001500	Broad finger	2260	FGFR1	ORPHA:93258
HP:0001500	Broad finger	2260	FGFR1	OMIM:166250
HP:0001500	Broad finger	2260	FGFR1	OMIM:101600
HP:0001500	Broad finger	64093	SMOC1	ORPHA:1106
HP:0001500	Broad finger	2626	GATA4	ORPHA:251071
HP:0001500	Broad finger	8726	EED	OMIM:617561
HP:0001500	Broad finger	5718	PSMD12	ORPHA:529962
HP:0001500	Broad finger	2186	BPTF	ORPHA:529962
HP:0001500	Broad finger	4212	MEIS2	OMIM:600987
HP:0001500	Broad finger	1954	MEGF8	OMIM:614976
HP:0001500	Broad finger	1954	MEGF8	ORPHA:65759
HP:0001500	Broad finger	51715	RAB23	ORPHA:65759
HP:0001500	Broad finger	5728	PTEN	ORPHA:79076
HP:0001500	Broad finger	5728	PTEN	ORPHA:109
HP:0001500	Broad finger	657	BMPR1A	ORPHA:79076
HP:0001500	Broad finger	8200	GDF5	ORPHA:3237
HP:0001500	Broad finger	2254	FGF9	ORPHA:3237
HP:0001500	Broad finger	2254	FGF9	OMIM:612961
HP:0001500	Broad finger	3981	LIG4	ORPHA:235
HP:0001500	Broad finger	54888	NSUN2	ORPHA:235
HP:0001500	Broad finger	6608	SMO	OMIM:601707
HP:0001500	Broad finger	6608	SMO	ORPHA:1553
HP:0001500	Broad finger	51633	OTUD6B	OMIM:617452
HP:0001500	Broad finger	51633	OTUD6B	ORPHA:505237
HP:0001500	Broad finger	79753	SNIP1	OMIM:614501
HP:0001500	Broad finger	9968	MED12	OMIM:309520
HP:0001500	Broad finger	9968	MED12	OMIM:305450
HP:0001500	Broad finger	80036	TRPM3	OMIM:620224
HP:0001500	Broad finger	285362	SUMF1	OMIM:272200
HP:0001500	Broad finger	285362	SUMF1	ORPHA:585
HP:0001500	Broad finger	79759	ZNF668	OMIM:620194
HP:0001500	Broad finger	10236	HNRNPR	OMIM:620073
HP:0001500	Broad finger	284252	KCTD1	OMIM:181270
HP:0001500	Broad finger	1857	DVL3	OMIM:616894
HP:0001500	Broad finger	8481	OFD1	OMIM:300209
HP:0001500	Broad finger	56098	PCDHGC4	OMIM:619880
HP:0001500	Broad finger	51339	DACT1	ORPHA:857
HP:0001500	Broad finger	3756	KCNH1	ORPHA:420561
HP:0001500	Broad finger	3756	KCNH1	OMIM:611816
HP:0001500	Broad finger	2719	GPC3	ORPHA:373
HP:0001500	Broad finger	2719	GPC3	OMIM:312870
HP:0001500	Broad finger	4123	MAN2C1	OMIM:619775
HP:0001500	Broad finger	4488	MSX2	ORPHA:60015
HP:0001500	Broad finger	60529	ALX4	ORPHA:60015
HP:0001500	Broad finger	79989	IFT56	OMIM:619534
HP:0001500	Broad finger	2146	EZH2	OMIM:277590
HP:0001500	Broad finger	2146	EZH2	ORPHA:3447
HP:0001500	Broad finger	9939	RBM8A	ORPHA:3320
HP:0001500	Broad finger	9939	RBM8A	OMIM:274000
HP:0001500	Broad finger	7474	WNT5A	OMIM:180700
HP:0001500	Broad finger	64324	NSD1	ORPHA:3447
HP:0001500	Broad finger	23512	SUZ12	ORPHA:3447
HP:0001500	Broad finger	5587	PRKD1	OMIM:617364
HP:0001500	Broad finger	2703	GJA8	OMIM:612474
HP:0001500	Broad finger	2702	GJA5	OMIM:612474
HP:0001500	Broad finger	3636	INPPL1	ORPHA:2746
HP:0001500	Broad finger	55690	PACS1	ORPHA:329224
HP:0001500	Broad finger	22907	DHX30	OMIM:617804
HP:0001500	Broad finger	865	CBFB	OMIM:620099
HP:6000102	Breast intraductal papilloma	4437	MSH3	OMIM:617100
HP:6000100	Hyperpolarized transepithelial nasal potential difference	1080	CFTR	OMIM:219700
HP:6000100	Hyperpolarized transepithelial nasal potential difference	2212	FCGR2A	OMIM:219700
HP:6000100	Hyperpolarized transepithelial nasal potential difference	7040	TGFB1	OMIM:219700
HP:6000100	Hyperpolarized transepithelial nasal potential difference	6337	SCNN1A	OMIM:613021
HP:6000101	Corneopalpebral synechiae	158326	FREM1	OMIM:248450
HP:0034565	Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level	471	ATIC	OMIM:608688
HP:6000118	Elevated urinary dihydrouracil level	1807	DPYS	OMIM:222748
HP:6000119	Elevated urinary dihydrothymine level	1806	DPYD	OMIM:274270
HP:6000119	Elevated urinary dihydrothymine level	1807	DPYS	OMIM:222748
HP:6000120	Elevated urinary sulfatide level	2643	GCH1	OMIM:233910
HP:6000121	Elevated urinary xanthurenic acid level	8942	KYNU	OMIM:236800
HP:6000122	Increased urinary N-acetylglucosamine-rich oligosaccharide level	3074	HEXB	OMIM:268800
HP:6000124	Positive 2,4-dinitrophenylhydrazine urine test	593	BCKDHA	OMIM:248600
HP:6000127	Elevated urinary creatine/creatinine ratio	6535	SLC6A8	OMIM:300352
HP:6000130	Elevated urinary indican level	340024	SLC6A19	ORPHA:2116
HP:6000130	Elevated urinary indican level	57393	CLTRN	ORPHA:2116
HP:6000132	Reduced erythrocyte gamma-glutamyl cysteine synthetase activity	2729	GCLC	OMIM:230450
HP:6000133	Decreased erythrocyte nicotinamide adenine dinucleotide-cytochrome b5 reductase activity	1727	CYB5R3	OMIM:250800
HP:6000134	Reduced alpha-methylacyl-CoA racemase activity in cultured fibroblasts	23600	AMACR	OMIM:614307
HP:6000139	Splinter hemorrhages	51816	ADA2	ORPHA:820
HP:6000147	Elevated methylhex-dienedioic level by MRS	2222	FDFT1	OMIM:618156
HP:6000156	Pancreatic atrophy	6928	HNF1B	OMIM:137920
HP:6000158	Unesterified cholesterol accumulation in cultured fibroblasts	4864	NPC1	OMIM:257220
HP:6000161	Reduced hepatic N-acetylglutamate synthase activity	162417	NAGS	OMIM:237310
HP:6000182	Absent otoacoustic emissions	54931	TRMT10C	OMIM:616974
HP:6000184	Filum terminale lipoma	55262	TRAPPC14	OMIM:618351
HP:6000185	Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio	3290	HSD11B1	OMIM:614662
HP:6000198	Reduced muscle phosphorylase kinase activity	5255	PHKA1	ORPHA:715
HP:6000198	Reduced muscle phosphorylase kinase activity	5255	PHKA1	OMIM:300559
HP:6000198	Reduced muscle phosphorylase kinase activity	5260	PHKG1	ORPHA:715
HP:6000199	Reduced 3-beta-hydroxysteroid-delta-5-desaturase activity in cultured fibroblasts	6309	SC5D	OMIM:607330
HP:0007900	Hypoplastic lacrimal duct	2263	FGFR2	OMIM:149730
HP:0007900	Hypoplastic lacrimal duct	1281	COL3A1	ORPHA:286
HP:0007973	Retinal dysplasia	2218	FKTN	ORPHA:272
HP:0007973	Retinal dysplasia	2218	FKTN	OMIM:253800
HP:0007973	Retinal dysplasia	2218	FKTN	OMIM:236670
HP:0007973	Retinal dysplasia	2218	FKTN	ORPHA:899
HP:0007973	Retinal dysplasia	134218	DNAJC21	OMIM:617052
HP:0007973	Retinal dysplasia	203068	TUBB	OMIM:615771
HP:0007973	Retinal dysplasia	9215	LARGE1	OMIM:613154
HP:0007973	Retinal dysplasia	9215	LARGE1	OMIM:236670
HP:0007973	Retinal dysplasia	9215	LARGE1	ORPHA:899
HP:0007973	Retinal dysplasia	729920	CRPPA	OMIM:614643
HP:0007973	Retinal dysplasia	729920	CRPPA	ORPHA:899
HP:0007973	Retinal dysplasia	2301	FOXE3	ORPHA:83461
HP:0007973	Retinal dysplasia	55624	POMGNT1	OMIM:253280
HP:0007973	Retinal dysplasia	55624	POMGNT1	ORPHA:899
HP:0007973	Retinal dysplasia	56623	INPP5E	OMIM:213300
HP:0007973	Retinal dysplasia	4693	NDP	OMIM:310600
HP:0007973	Retinal dysplasia	54539	NDUFB11	ORPHA:2556
HP:0007973	Retinal dysplasia	1349	COX7B	ORPHA:2556
HP:0007973	Retinal dysplasia	3052	HCCS	ORPHA:2556
HP:0007973	Retinal dysplasia	1301	COL11A1	OMIM:604841
HP:0007973	Retinal dysplasia	10329	RXYLT1	OMIM:615041
HP:0007973	Retinal dysplasia	10329	RXYLT1	ORPHA:899
HP:0007973	Retinal dysplasia	11041	B4GAT1	OMIM:615287
HP:0007973	Retinal dysplasia	11041	B4GAT1	ORPHA:899
HP:0007973	Retinal dysplasia	2317	FLNB	ORPHA:1190
HP:0007973	Retinal dysplasia	5147	PDE6D	OMIM:615665
HP:0007973	Retinal dysplasia	84892	POMGNT2	OMIM:614830
HP:0007973	Retinal dysplasia	84892	POMGNT2	ORPHA:899
HP:0007973	Retinal dysplasia	3832	KIF11	ORPHA:2526
HP:0007973	Retinal dysplasia	29954	POMT2	OMIM:236670
HP:0007973	Retinal dysplasia	29954	POMT2	ORPHA:899
HP:0007973	Retinal dysplasia	79147	FKRP	OMIM:236670
HP:0007973	Retinal dysplasia	79147	FKRP	ORPHA:899
HP:0007973	Retinal dysplasia	10585	POMT1	OMIM:236670
HP:0007973	Retinal dysplasia	10585	POMT1	ORPHA:899
HP:0007973	Retinal dysplasia	148789	B3GALNT2	ORPHA:899
HP:0007973	Retinal dysplasia	1282	COL4A1	ORPHA:899
HP:0007973	Retinal dysplasia	1605	DAG1	ORPHA:899
HP:0007973	Retinal dysplasia	84197	POMK	ORPHA:899
HP:0007902	Vitreous hemorrhage	8322	FZD4	OMIM:133780
HP:0007902	Vitreous hemorrhage	8322	FZD4	ORPHA:891
HP:0007902	Vitreous hemorrhage	8322	FZD4	ORPHA:90050
HP:0007902	Vitreous hemorrhage	4041	LRP5	OMIM:133780
HP:0007902	Vitreous hemorrhage	4041	LRP5	ORPHA:891
HP:0007902	Vitreous hemorrhage	4041	LRP5	ORPHA:90050
HP:0007902	Vitreous hemorrhage	4041	LRP5	OMIM:601813
HP:0007902	Vitreous hemorrhage	6247	RS1	ORPHA:792
HP:0007902	Vitreous hemorrhage	6247	RS1	OMIM:312700
HP:0007902	Vitreous hemorrhage	4693	NDP	ORPHA:891
HP:0007902	Vitreous hemorrhage	4693	NDP	ORPHA:90050
HP:0007902	Vitreous hemorrhage	1499	CTNNB1	ORPHA:891
HP:0007902	Vitreous hemorrhage	23554	TSPAN12	ORPHA:891
HP:0007902	Vitreous hemorrhage	79797	ZNF408	ORPHA:891
HP:0007902	Vitreous hemorrhage	726	CAPN5	OMIM:193235
HP:0007902	Vitreous hemorrhage	7439	BEST1	OMIM:193220
HP:0007902	Vitreous hemorrhage	5624	PROC	OMIM:612304
HP:0007902	Vitreous hemorrhage	5925	RB1	OMIM:180200
HP:0007902	Vitreous hemorrhage	8314	BAP1	ORPHA:39044
HP:0007902	Vitreous hemorrhage	57105	CYSLTR2	ORPHA:39044
HP:0007902	Vitreous hemorrhage	2776	GNAQ	ORPHA:39044
HP:0007902	Vitreous hemorrhage	2767	GNA11	ORPHA:39044
HP:0007902	Vitreous hemorrhage	23451	SF3B1	ORPHA:39044
HP:0007902	Vitreous hemorrhage	90952	ESAM	OMIM:620371
HP:0007902	Vitreous hemorrhage	23137	SMC5	OMIM:620185
HP:0007903	Paravenous chorioretinal atrophy	23418	CRB1	OMIM:172870
HP:0000637	Long palpebral fissure	60	ACTB	OMIM:243310
HP:0000637	Long palpebral fissure	60	ACTB	ORPHA:2995
HP:0000637	Long palpebral fissure	699	BUB1	OMIM:620183
HP:0000637	Long palpebral fissure	23394	ADNP	ORPHA:404448
HP:0000637	Long palpebral fissure	23013	SPEN	OMIM:619312
HP:0000637	Long palpebral fissure	8367	H4C5	OMIM:619950
HP:0000637	Long palpebral fissure	8812	CCNK	OMIM:618147
HP:0000637	Long palpebral fissure	9759	HDAC4	OMIM:619797
HP:0000637	Long palpebral fissure	71	ACTG1	OMIM:614583
HP:0000637	Long palpebral fissure	71	ACTG1	ORPHA:2995
HP:0000637	Long palpebral fissure	10526	IPO8	OMIM:619472
HP:0000637	Long palpebral fissure	9158	FIBP	ORPHA:500095
HP:0000637	Long palpebral fissure	9158	FIBP	OMIM:617107
HP:0000637	Long palpebral fissure	6711	SPTBN1	OMIM:619475
HP:0000637	Long palpebral fissure	51633	OTUD6B	OMIM:617452
HP:0000637	Long palpebral fissure	51633	OTUD6B	ORPHA:505237
HP:0000637	Long palpebral fissure	1857	DVL3	ORPHA:3107
HP:0000637	Long palpebral fissure	7474	WNT5A	ORPHA:3107
HP:0000637	Long palpebral fissure	7474	WNT5A	OMIM:180700
HP:0000637	Long palpebral fissure	1855	DVL1	ORPHA:3107
HP:0000637	Long palpebral fissure	1855	DVL1	OMIM:180700
HP:0000637	Long palpebral fissure	2535	FZD2	ORPHA:3107
HP:0000637	Long palpebral fissure	29123	ANKRD11	ORPHA:2332
HP:0000637	Long palpebral fissure	29123	ANKRD11	OMIM:148050
HP:0000637	Long palpebral fissure	4762	NEUROG1	OMIM:620469
HP:0000637	Long palpebral fissure	100151683	RNU4ATAC	ORPHA:353298
HP:0000637	Long palpebral fissure	100151683	RNU4ATAC	OMIM:616651
HP:0000637	Long palpebral fissure	84720	PIGO	OMIM:614749
HP:0000637	Long palpebral fissure	84720	PIGO	ORPHA:247262
HP:0000637	Long palpebral fissure	8405	SPOP	OMIM:618829
HP:0000637	Long palpebral fissure	3190	HNRNPK	ORPHA:453504
HP:0000637	Long palpebral fissure	3190	HNRNPK	OMIM:616580
HP:0000637	Long palpebral fissure	3190	HNRNPK	ORPHA:352665
HP:0000637	Long palpebral fissure	51611	DPH5	OMIM:620070
HP:0000637	Long palpebral fissure	57459	GATAD2B	ORPHA:363686
HP:0000637	Long palpebral fissure	3636	INPPL1	OMIM:258480
HP:0000637	Long palpebral fissure	10978	CLP1	ORPHA:411493
HP:0000637	Long palpebral fissure	10978	CLP1	OMIM:615803
HP:0000637	Long palpebral fissure	7453	WARS1	OMIM:620317
HP:0000637	Long palpebral fissure	8085	KMT2D	ORPHA:2322
HP:0000637	Long palpebral fissure	8085	KMT2D	OMIM:147920
HP:0000637	Long palpebral fissure	7403	KDM6A	ORPHA:2322
HP:0000637	Long palpebral fissure	7403	KDM6A	OMIM:300867
HP:0000637	Long palpebral fissure	7403	KDM6A	OMIM:147920
HP:0000637	Long palpebral fissure	1759	DNM1	OMIM:620352
HP:0000637	Long palpebral fissure	4297	KMT2A	OMIM:605130
HP:0000637	Long palpebral fissure	55650	PIGV	OMIM:239300
HP:0000637	Long palpebral fissure	55650	PIGV	ORPHA:247262
HP:0000637	Long palpebral fissure	4920	ROR2	OMIM:268310
HP:0000637	Long palpebral fissure	4920	ROR2	ORPHA:1507
HP:0000637	Long palpebral fissure	5296	PIK3R2	OMIM:603387
HP:0000637	Long palpebral fissure	84992	PIGY	ORPHA:247262
HP:0000637	Long palpebral fissure	93210	PGAP3	ORPHA:247262
HP:0000637	Long palpebral fissure	284098	PIGW	ORPHA:247262
HP:0000637	Long palpebral fissure	27315	PGAP2	ORPHA:247262
HP:0000637	Long palpebral fissure	27315	PGAP2	OMIM:614207
HP:0000637	Long palpebral fissure	9487	PIGL	ORPHA:247262
HP:0000637	Long palpebral fissure	4001	LMNB1	OMIM:619179
HP:0000637	Long palpebral fissure	818	CAMK2G	OMIM:618522
HP:0000637	Long palpebral fissure	5879	RAC1	OMIM:617751
HP:0000637	Long palpebral fissure	24140	FTSJ1	OMIM:309549
HP:0000637	Long palpebral fissure	3899	AFF3	OMIM:619297
HP:0000637	Long palpebral fissure	92255	LMBRD2	OMIM:619694
HP:0000637	Long palpebral fissure	25885	POLR1A	OMIM:616462
HP:0000637	Long palpebral fissure	80204	FBXO11	OMIM:618089
HP:0000637	Long palpebral fissure	1984	EIF5A	OMIM:619376
HP:0000637	Long palpebral fissure	8120	AP3B2	OMIM:617276
HP:0000637	Long palpebral fissure	57479	PRR12	OMIM:619539
HP:0000637	Long palpebral fissure	79718	TBL1XR1	OMIM:616944
HP:0000637	Long palpebral fissure	5604	MAP2K1	ORPHA:1340
HP:0000637	Long palpebral fissure	5605	MAP2K2	ORPHA:1340
HP:0000637	Long palpebral fissure	3845	KRAS	ORPHA:1340
HP:0000637	Long palpebral fissure	673	BRAF	ORPHA:1340
HP:0000637	Long palpebral fissure	64359	NXN	ORPHA:1507
HP:0000637	Long palpebral fissure	51322	WAC	ORPHA:466950
HP:0000637	Long palpebral fissure	5277	PIGA	OMIM:300868
HP:0000637	Long palpebral fissure	7043	TGFB3	OMIM:615582
HP:0000637	Long palpebral fissure	1523	CUX1	OMIM:618330
HP:0000637	Long palpebral fissure	7543	ZFX	OMIM:301118
HP:0000637	Long palpebral fissure	5144	PDE4D	ORPHA:439822
HP:0000637	Long palpebral fissure	5813	PURA	ORPHA:438216
HP:0000637	Long palpebral fissure	5813	PURA	OMIM:616158
HP:0000637	Long palpebral fissure	170302	ARX	OMIM:300419
HP:0000637	Long palpebral fissure	649	BMP1	OMIM:614856
HP:0000637	Long palpebral fissure	2783	GNB2	OMIM:619503
HP:0000637	Long palpebral fissure	1642	DDB1	OMIM:619426
HP:0000637	Long palpebral fissure	10664	CTCF	OMIM:615502
HP:0000637	Long palpebral fissure	27445	PCLO	OMIM:608027
HP:0000637	Long palpebral fissure	1974	EIF4A2	OMIM:620455
HP:0000637	Long palpebral fissure	78987	CRELD1	OMIM:620771
HP:0000637	Long palpebral fissure	6874	TAF4	OMIM:620450
HP:0000637	Long palpebral fissure	64864	RFX7	OMIM:620330
HP:0007905	Abnormal iris vasculature	4653	MYOC	OMIM:137750
HP:0007905	Abnormal iris vasculature	2296	FOXC1	OMIM:601631
HP:0007905	Abnormal iris vasculature	4016	LOXL1	OMIM:177650
HP:0007906	Ocular hypertension	5309	PITX3	OMIM:107250
HP:0007906	Ocular hypertension	7837	PXDN	OMIM:269400
HP:0007906	Ocular hypertension	3105	HLA-A	ORPHA:179
HP:0007906	Ocular hypertension	7010	TEK	OMIM:617272
HP:0007906	Ocular hypertension	7010	TEK	ORPHA:98976
HP:0007906	Ocular hypertension	170691	ADAMTS17	OMIM:613195
HP:0007906	Ocular hypertension	80781	COL18A1	OMIM:618880
HP:0007906	Ocular hypertension	113189	CHST14	ORPHA:2953
HP:0007906	Ocular hypertension	29940	DSE	ORPHA:2953
HP:0007906	Ocular hypertension	2335	FN1	ORPHA:93315
HP:0007906	Ocular hypertension	1280	COL2A1	ORPHA:93315
HP:0007906	Ocular hypertension	4010	LMX1B	ORPHA:2614
HP:0007906	Ocular hypertension	2202	EFEMP1	OMIM:611276
HP:0007906	Ocular hypertension	2202	EFEMP1	ORPHA:98977
HP:0007906	Ocular hypertension	3166	HMX1	OMIM:612109
HP:0007906	Ocular hypertension	646960	PRSS56	OMIM:613517
HP:0007906	Ocular hypertension	8314	BAP1	ORPHA:39044
HP:0007906	Ocular hypertension	57105	CYSLTR2	ORPHA:39044
HP:0007906	Ocular hypertension	2776	GNAQ	ORPHA:39044
HP:0007906	Ocular hypertension	2767	GNA11	ORPHA:39044
HP:0007906	Ocular hypertension	23451	SF3B1	ORPHA:39044
HP:0007906	Ocular hypertension	136371	ASB10	OMIM:603383
HP:0007906	Ocular hypertension	3081	HGD	ORPHA:56
HP:0007906	Ocular hypertension	444	ASPH	OMIM:601552
HP:0007906	Ocular hypertension	4774	NFIA	ORPHA:401986
HP:0007906	Ocular hypertension	114902	C1QTNF5	ORPHA:67042
HP:0007906	Ocular hypertension	30813	VSX1	OMIM:614195
HP:0007906	Ocular hypertension	30813	VSX1	ORPHA:98973
HP:0007906	Ocular hypertension	355	FAS	ORPHA:3437
HP:0007906	Ocular hypertension	26191	PTPN22	ORPHA:3437
HP:0007906	Ocular hypertension	1545	CYP1B1	OMIM:231300
HP:0007906	Ocular hypertension	1545	CYP1B1	ORPHA:98976
HP:0007906	Ocular hypertension	1545	CYP1B1	ORPHA:98977
HP:0007906	Ocular hypertension	169792	GLIS3	OMIM:610199
HP:0007906	Ocular hypertension	2301	FOXE3	OMIM:610256
HP:0007906	Ocular hypertension	4053	LTBP2	ORPHA:98976
HP:0007906	Ocular hypertension	4053	LTBP2	OMIM:614819
HP:0007906	Ocular hypertension	4653	MYOC	ORPHA:98976
HP:0007906	Ocular hypertension	4653	MYOC	ORPHA:98977
HP:0007906	Ocular hypertension	23516	SLC39A14	OMIM:144755
HP:0007906	Ocular hypertension	6935	ZEB1	ORPHA:98973
HP:0007906	Ocular hypertension	58495	OVOL2	ORPHA:98973
HP:0007906	Ocular hypertension	79977	GRHL2	ORPHA:98973
HP:0007906	Ocular hypertension	1296	COL8A2	ORPHA:98973
HP:0000643	Blepharospasm	57167	SALL4	ORPHA:233
HP:0000643	Blepharospasm	9935	MAFB	ORPHA:233
HP:0000643	Blepharospasm	1123	CHN1	ORPHA:233
HP:0000643	Blepharospasm	7291	TWIST1	ORPHA:794
HP:0000643	Blepharospasm	2263	FGFR2	ORPHA:794
HP:0000643	Blepharospasm	2261	FGFR3	ORPHA:794
HP:0000643	Blepharospasm	1816	DRD5	OMIM:606798
HP:0000643	Blepharospasm	2512	FTL	OMIM:606159
HP:0000643	Blepharospasm	2512	FTL	ORPHA:157846
HP:0000643	Blepharospasm	63982	ANO3	OMIM:615034
HP:0000643	Blepharospasm	63982	ANO3	ORPHA:420485
HP:0000643	Blepharospasm	4137	MAPT	ORPHA:240071
HP:0000643	Blepharospasm	4137	MAPT	ORPHA:240094
HP:0000643	Blepharospasm	1356	CP	OMIM:604290
HP:0000643	Blepharospasm	1356	CP	ORPHA:48818
HP:0000643	Blepharospasm	10382	TUBB4A	ORPHA:98805
HP:0000643	Blepharospasm	55145	THAP1	ORPHA:98806
HP:0000643	Blepharospasm	10815	CPLX1	ORPHA:352582
HP:0000643	Blepharospasm	57465	TBC1D24	ORPHA:352582
HP:0000643	Blepharospasm	6872	TAF1	ORPHA:53351
HP:0000643	Blepharospasm	80025	PANK2	OMIM:234200
HP:0000643	Blepharospasm	3339	HSPG2	ORPHA:800
HP:0000643	Blepharospasm	3208	HPCA	ORPHA:99657
HP:0000643	Blepharospasm	3208	HPCA	OMIM:224500
HP:0000643	Blepharospasm	1822	ATN1	ORPHA:101
HP:0000643	Blepharospasm	84172	POLR1B	ORPHA:861
HP:0000643	Blepharospasm	9533	POLR1C	ORPHA:861
HP:0000643	Blepharospasm	51082	POLR1D	ORPHA:861
HP:0000643	Blepharospasm	6949	TCOF1	ORPHA:861
HP:0000643	Blepharospasm	51102	MECR	OMIM:617282
HP:0000643	Blepharospasm	56910	STARD7	OMIM:607876
HP:0000643	Blepharospasm	11315	PARK7	OMIM:606324
HP:0000643	Blepharospasm	79734	KCTD17	OMIM:616398
HP:0000643	Blepharospasm	23400	ATP13A2	ORPHA:306674
HP:0000643	Blepharospasm	23230	VPS13A	ORPHA:2388
HP:0000643	Blepharospasm	16	AARS1	OMIM:616339
HP:0000643	Blepharospasm	1644	DDC	OMIM:608643
HP:0000643	Blepharospasm	1545	CYP1B1	ORPHA:98976
HP:0000643	Blepharospasm	4053	LTBP2	ORPHA:98976
HP:0000643	Blepharospasm	4653	MYOC	ORPHA:98976
HP:0000643	Blepharospasm	7010	TEK	ORPHA:98976
HP:0000643	Blepharospasm	773	CACNA1A	ORPHA:98758
HP:0000643	Blepharospasm	1861	TOR1A	OMIM:128100
HP:0000643	Blepharospasm	6908	TBP	ORPHA:98759
HP:0000643	Blepharospasm	4070	TACSTD2	ORPHA:98957
HP:0000652	Lower eyelid coloboma	284252	KCTD1	OMIM:181270
HP:0000652	Lower eyelid coloboma	10262	SF3B4	ORPHA:245
HP:0000652	Lower eyelid coloboma	10262	SF3B4	OMIM:154400
HP:0000652	Lower eyelid coloboma	54101	RIPK4	OMIM:263650
HP:0000652	Lower eyelid coloboma	6949	TCOF1	OMIM:154500
HP:0000652	Lower eyelid coloboma	25885	POLR1A	OMIM:616462
HP:0000652	Lower eyelid coloboma	9533	POLR1C	OMIM:248390
HP:0000652	Lower eyelid coloboma	1909	EDNRA	OMIM:616367
HP:0000652	Lower eyelid coloboma	84172	POLR1B	OMIM:618939
HP:0000652	Lower eyelid coloboma	51082	POLR1D	OMIM:613717
HP:0000652	Lower eyelid coloboma	10907	TXNL4A	OMIM:608572
HP:0200065	Chorioretinal degeneration	346007	EYS	OMIM:602772
HP:0200065	Chorioretinal degeneration	4693	NDP	ORPHA:891
HP:0200065	Chorioretinal degeneration	1499	CTNNB1	ORPHA:891
HP:0200065	Chorioretinal degeneration	23554	TSPAN12	ORPHA:891
HP:0200065	Chorioretinal degeneration	4041	LRP5	ORPHA:891
HP:0200065	Chorioretinal degeneration	79797	ZNF408	ORPHA:891
HP:0200065	Chorioretinal degeneration	79797	ZNF408	OMIM:616468
HP:0200065	Chorioretinal degeneration	8322	FZD4	ORPHA:891
HP:0200065	Chorioretinal degeneration	25794	FSCN2	OMIM:607921
HP:0200065	Chorioretinal degeneration	1181	CLCN2	OMIM:615651
HP:0200065	Chorioretinal degeneration	4901	NRL	OMIM:613750
HP:0200065	Chorioretinal degeneration	54820	NDE1	ORPHA:2177
HP:0200065	Chorioretinal degeneration	23418	CRB1	OMIM:613835
HP:0200065	Chorioretinal degeneration	6295	SAG	OMIM:613758
HP:0200065	Chorioretinal degeneration	3000	GUCY2D	OMIM:215500
HP:0200065	Chorioretinal degeneration	3000	GUCY2D	OMIM:601777
HP:0200065	Chorioretinal degeneration	3000	GUCY2D	ORPHA:75377
HP:0200065	Chorioretinal degeneration	3166	HMX1	OMIM:612109
HP:0200065	Chorioretinal degeneration	1406	CRX	OMIM:120970
HP:0200065	Chorioretinal degeneration	6094	ROM1	OMIM:608133
HP:0200065	Chorioretinal degeneration	5961	PRPH2	OMIM:608133
HP:0200065	Chorioretinal degeneration	5961	PRPH2	OMIM:613105
HP:0200065	Chorioretinal degeneration	5961	PRPH2	ORPHA:75377
HP:0200065	Chorioretinal degeneration	5076	PAX2	OMIM:120330
HP:0200065	Chorioretinal degeneration	80781	COL18A1	OMIM:267750
HP:0200065	Chorioretinal degeneration	10908	PNPLA6	OMIM:215470
HP:0200065	Chorioretinal degeneration	10908	PNPLA6	OMIM:245800
HP:0200065	Chorioretinal degeneration	10908	PNPLA6	OMIM:275400
HP:0200065	Chorioretinal degeneration	3030	HADHA	ORPHA:5
HP:0200065	Chorioretinal degeneration	9227	LRAT	ORPHA:364055
HP:0200065	Chorioretinal degeneration	55812	SPATA7	ORPHA:364055
HP:0200065	Chorioretinal degeneration	6121	RPE65	ORPHA:364055
HP:0200065	Chorioretinal degeneration	6121	RPE65	OMIM:618697
HP:0200065	Chorioretinal degeneration	167691	LCA5	ORPHA:364055
HP:0200065	Chorioretinal degeneration	3845	KRAS	OMIM:600268
HP:0200065	Chorioretinal degeneration	100147744	RNU7-1	OMIM:619487
HP:0200065	Chorioretinal degeneration	7078	TIMP3	OMIM:136900
HP:0200065	Chorioretinal degeneration	7078	TIMP3	ORPHA:59181
HP:0200065	Chorioretinal degeneration	182	JAG1	OMIM:118450
HP:0200065	Chorioretinal degeneration	57096	RPGRIP1	OMIM:613826
HP:0200065	Chorioretinal degeneration	1462	VCAN	OMIM:143200
HP:0200065	Chorioretinal degeneration	2978	GUCA1A	ORPHA:75377
HP:0200065	Chorioretinal degeneration	10166	SLC25A15	ORPHA:415
HP:0200065	Chorioretinal degeneration	10166	SLC25A15	OMIM:238970
HP:0200065	Chorioretinal degeneration	2202	EFEMP1	ORPHA:75376
HP:0200065	Chorioretinal degeneration	3075	CFH	ORPHA:75376
HP:0200065	Chorioretinal degeneration	3426	CFI	ORPHA:75376
HP:0200065	Chorioretinal degeneration	7003	TEAD1	OMIM:108985
HP:0200065	Chorioretinal degeneration	94	ACVRL1	OMIM:600376
HP:0200065	Chorioretinal degeneration	1001	CDH3	OMIM:601553
HP:0200065	Chorioretinal degeneration	1121	CHM	OMIM:303100
HP:0200065	Chorioretinal degeneration	1804	DPP6	OMIM:616311
HP:0200065	Chorioretinal degeneration	1297	COL9A1	OMIM:614134
HP:0200065	Chorioretinal degeneration	285440	CYP4V2	ORPHA:41751
HP:0200065	Chorioretinal degeneration	170692	ADAMTS18	OMIM:615458
HP:0200065	Chorioretinal degeneration	6102	RP2	OMIM:312600
HP:0200065	Chorioretinal degeneration	6935	ZEB1	ORPHA:98973
HP:0200065	Chorioretinal degeneration	30813	VSX1	ORPHA:98973
HP:0200065	Chorioretinal degeneration	58495	OVOL2	ORPHA:98973
HP:0200065	Chorioretinal degeneration	79977	GRHL2	ORPHA:98973
HP:0200065	Chorioretinal degeneration	1296	COL8A2	ORPHA:98973
HP:0200065	Chorioretinal degeneration	114902	C1QTNF5	OMIM:605670
HP:0200065	Chorioretinal degeneration	5456	POU3F4	ORPHA:1435
HP:0200065	Chorioretinal degeneration	4942	OAT	ORPHA:414
HP:0007913	Reticular retinal dystrophy	5961	PRPH2	OMIM:169150
HP:0007915	Polymorphous posterior corneal dystrophy	58495	OVOL2	OMIM:122000
HP:0007917	Tractional retinal detachment	1462	VCAN	OMIM:143200
HP:0007917	Tractional retinal detachment	23554	TSPAN12	OMIM:613310
HP:0007917	Tractional retinal detachment	23554	TSPAN12	ORPHA:891
HP:0007917	Tractional retinal detachment	79797	ZNF408	OMIM:616468
HP:0007917	Tractional retinal detachment	79797	ZNF408	ORPHA:891
HP:0007917	Tractional retinal detachment	4693	NDP	ORPHA:891
HP:0007917	Tractional retinal detachment	4693	NDP	ORPHA:90050
HP:0007917	Tractional retinal detachment	4693	NDP	ORPHA:91495
HP:0007917	Tractional retinal detachment	1499	CTNNB1	ORPHA:891
HP:0007917	Tractional retinal detachment	4041	LRP5	ORPHA:891
HP:0007917	Tractional retinal detachment	4041	LRP5	ORPHA:90050
HP:0007917	Tractional retinal detachment	4041	LRP5	OMIM:601813
HP:0007917	Tractional retinal detachment	8322	FZD4	ORPHA:891
HP:0007917	Tractional retinal detachment	8322	FZD4	ORPHA:90050
HP:0007917	Tractional retinal detachment	8322	FZD4	ORPHA:91495
HP:0007917	Tractional retinal detachment	220202	ATOH7	ORPHA:91495
HP:0001751	Abnormal vestibular function	65217	PCDH15	OMIM:601067
HP:0001751	Abnormal vestibular function	65217	PCDH15	OMIM:602083
HP:0001751	Abnormal vestibular function	64072	CDH23	OMIM:601067
HP:0001751	Abnormal vestibular function	64072	CDH23	OMIM:601386
HP:0001751	Abnormal vestibular function	491	ATP2B2	OMIM:601386
HP:0001751	Abnormal vestibular function	5137	PDE1C	OMIM:618140
HP:0001751	Abnormal vestibular function	7840	ALMS1	ORPHA:64
HP:0001751	Abnormal vestibular function	117531	TMC1	OMIM:600974
HP:0001751	Abnormal vestibular function	126326	GIPC3	OMIM:601869
HP:0001751	Abnormal vestibular function	53405	CLIC5	OMIM:616042
HP:0001751	Abnormal vestibular function	23262	PPIP5K2	OMIM:618422
HP:0001751	Abnormal vestibular function	22901	ARSG	OMIM:618144
HP:0001751	Abnormal vestibular function	57465	TBC1D24	OMIM:616044
HP:0001751	Abnormal vestibular function	222662	LHFPL5	OMIM:610265
HP:0001751	Abnormal vestibular function	4171	MCM2	OMIM:616968
HP:0001751	Abnormal vestibular function	5357	PLS1	OMIM:618787
HP:0001751	Abnormal vestibular function	6810	STX4	OMIM:620745
HP:0001751	Abnormal vestibular function	10804	GJB6	OMIM:612645
HP:0001751	Abnormal vestibular function	10804	GJB6	OMIM:220290
HP:0001751	Abnormal vestibular function	246213	SLC17A8	OMIM:605583
HP:0001751	Abnormal vestibular function	4287	ATXN3	ORPHA:276244
HP:0001751	Abnormal vestibular function	4287	ATXN3	ORPHA:276241
HP:0001751	Abnormal vestibular function	4287	ATXN3	ORPHA:276238
HP:0001751	Abnormal vestibular function	8763	CD164	OMIM:616969
HP:0001751	Abnormal vestibular function	643226	GRXCR2	OMIM:615837
HP:0001751	Abnormal vestibular function	10518	CIB2	OMIM:614869
HP:0001751	Abnormal vestibular function	10518	CIB2	OMIM:609439
HP:0001751	Abnormal vestibular function	773	CACNA1A	OMIM:108500
HP:0001751	Abnormal vestibular function	5428	POLG	ORPHA:70595
HP:0001751	Abnormal vestibular function	5428	POLG	OMIM:607459
HP:0001751	Abnormal vestibular function	56652	TWNK	ORPHA:70595
HP:0001751	Abnormal vestibular function	56652	TWNK	OMIM:607459
HP:0001751	Abnormal vestibular function	79966	SCD5	OMIM:619086
HP:0001751	Abnormal vestibular function	124590	USH1G	OMIM:606943
HP:0001751	Abnormal vestibular function	83715	ESPN	OMIM:618632
HP:0001751	Abnormal vestibular function	79731	NARS2	OMIM:618434
HP:0001751	Abnormal vestibular function	2620	GAS2	OMIM:620877
HP:0001751	Abnormal vestibular function	23516	SLC39A14	OMIM:144755
HP:0001751	Abnormal vestibular function	93035	PKHD1L1	OMIM:620794
HP:0001751	Abnormal vestibular function	645104	CLRN2	OMIM:619174
HP:0001751	Abnormal vestibular function	9984	THOC1	OMIM:620280
HP:0001751	Abnormal vestibular function	124842	TMEM132E	OMIM:618481
HP:0001751	Abnormal vestibular function	4646	MYO6	OMIM:607821
HP:0001751	Abnormal vestibular function	79955	PDZD7	OMIM:618003
HP:0001751	Abnormal vestibular function	374462	PTPRQ	OMIM:613391
HP:0001751	Abnormal vestibular function	2706	GJB2	OMIM:220290
HP:0001751	Abnormal vestibular function	2707	GJB3	OMIM:220290
HP:0001751	Abnormal vestibular function	182	JAG1	OMIM:617992
HP:0001751	Abnormal vestibular function	125336	LOXHD1	OMIM:613079
HP:0001751	Abnormal vestibular function	220074	LRTOMT	OMIM:611451
HP:0001751	Abnormal vestibular function	3766	KCNJ10	OMIM:274600
HP:0001751	Abnormal vestibular function	2299	FOXI1	OMIM:274600
HP:0001751	Abnormal vestibular function	5172	SLC26A4	OMIM:274600
HP:0001751	Abnormal vestibular function	1690	COCH	OMIM:618094
HP:0001751	Abnormal vestibular function	1678	TIMM8A	ORPHA:52368
HP:0001751	Abnormal vestibular function	7401	CLRN1	OMIM:276902
HP:0001751	Abnormal vestibular function	55553	SOX6	OMIM:618971
HP:0001751	Abnormal vestibular function	388551	CEACAM16	OMIM:618410
HP:0001751	Abnormal vestibular function	388551	CEACAM16	OMIM:614614
HP:0001751	Abnormal vestibular function	84173	ELMOD3	OMIM:619500
HP:0001751	Abnormal vestibular function	4647	MYO7A	OMIM:601317
HP:0001751	Abnormal vestibular function	4647	MYO7A	OMIM:600060
HP:0001751	Abnormal vestibular function	25861	WHRN	OMIM:611383
HP:0001751	Abnormal vestibular function	389207	GRXCR1	OMIM:613285
HP:0001751	Abnormal vestibular function	1428	CRYM	OMIM:616357
HP:0001751	Abnormal vestibular function	161497	STRC	OMIM:611102
HP:0001751	Abnormal vestibular function	117155	CATSPER2	OMIM:611102
HP:0001751	Abnormal vestibular function	23312	DMXL2	OMIM:617605
HP:0001751	Abnormal vestibular function	9750	RIPOR2	OMIM:616515
HP:0001751	Abnormal vestibular function	3371	TNC	OMIM:615629
HP:0001751	Abnormal vestibular function	152137	CCDC50	OMIM:607453
HP:0001751	Abnormal vestibular function	87178	PNPT1	OMIM:614934
HP:0001751	Abnormal vestibular function	10083	USH1C	ORPHA:231169
HP:0001751	Abnormal vestibular function	10083	USH1C	OMIM:276904
HP:0001751	Abnormal vestibular function	6548	SLC9A1	OMIM:616291
HP:0001751	Abnormal vestibular function	283310	OTOGL	OMIM:614944
HP:0001751	Abnormal vestibular function	340990	OTOG	OMIM:614945
HP:0001751	Abnormal vestibular function	165829	GPR156	OMIM:620551
HP:0001751	Abnormal vestibular function	3735	KARS1	OMIM:613916
HP:0001751	Abnormal vestibular function	4575	MT-TS2	ORPHA:231183
HP:0001751	Abnormal vestibular function	3035	HARS1	ORPHA:231183
HP:0001751	Abnormal vestibular function	84131	CEP78	ORPHA:231183
HP:0001751	Abnormal vestibular function	26191	PTPN22	ORPHA:397
HP:0001751	Abnormal vestibular function	26191	PTPN22	ORPHA:3437
HP:0001751	Abnormal vestibular function	3106	HLA-B	ORPHA:397
HP:0001751	Abnormal vestibular function	3106	HLA-B	ORPHA:3287
HP:0001751	Abnormal vestibular function	3106	HLA-B	ORPHA:117
HP:0001751	Abnormal vestibular function	3123	HLA-DRB1	ORPHA:397
HP:0001751	Abnormal vestibular function	8974	P4HA2	ORPHA:397
HP:0001751	Abnormal vestibular function	2639	GCDH	ORPHA:25
HP:0001751	Abnormal vestibular function	4352	MPL	ORPHA:71493
HP:0001751	Abnormal vestibular function	4352	MPL	ORPHA:3318
HP:0001751	Abnormal vestibular function	7066	THPO	ORPHA:71493
HP:0001751	Abnormal vestibular function	3717	JAK2	ORPHA:71493
HP:0001751	Abnormal vestibular function	3717	JAK2	ORPHA:729
HP:0001751	Abnormal vestibular function	3717	JAK2	OMIM:133100
HP:0001751	Abnormal vestibular function	3717	JAK2	ORPHA:3318
HP:0001751	Abnormal vestibular function	3736	KCNA1	OMIM:160120
HP:0001751	Abnormal vestibular function	3736	KCNA1	ORPHA:37612
HP:0001751	Abnormal vestibular function	4598	MVK	OMIM:260920
HP:0001751	Abnormal vestibular function	4038	LRP4	OMIM:614305
HP:0001751	Abnormal vestibular function	785	CACNB4	OMIM:613855
HP:0001751	Abnormal vestibular function	785	CACNB4	ORPHA:211067
HP:0001751	Abnormal vestibular function	2057	EPOR	ORPHA:90042
HP:0001751	Abnormal vestibular function	2057	EPOR	OMIM:133100
HP:0001751	Abnormal vestibular function	6261	RYR1	ORPHA:466650
HP:0001751	Abnormal vestibular function	51816	ADA2	ORPHA:820
HP:0001751	Abnormal vestibular function	6507	SLC1A3	ORPHA:209967
HP:0001751	Abnormal vestibular function	6507	SLC1A3	OMIM:612656
HP:0001751	Abnormal vestibular function	3728	JUP	ORPHA:34217
HP:0001751	Abnormal vestibular function	5155	PDGFB	OMIM:615483
HP:0001751	Abnormal vestibular function	4221	MEN1	ORPHA:2965
HP:0001751	Abnormal vestibular function	9049	AIP	ORPHA:2965
HP:0001751	Abnormal vestibular function	7132	TNFRSF1A	ORPHA:32960
HP:0001751	Abnormal vestibular function	3753	KCNE1	ORPHA:334
HP:0001751	Abnormal vestibular function	2702	GJA5	ORPHA:334
HP:0001751	Abnormal vestibular function	3760	KCNJ3	ORPHA:334
HP:0001751	Abnormal vestibular function	3762	KCNJ5	ORPHA:334
HP:0001751	Abnormal vestibular function	4635	MYL4	ORPHA:334
HP:0001751	Abnormal vestibular function	1482	NKX2-5	ORPHA:334
HP:0001751	Abnormal vestibular function	1482	NKX2-5	ORPHA:871
HP:0001751	Abnormal vestibular function	10060	ABCC9	ORPHA:334
HP:0001751	Abnormal vestibular function	137814	NKX2-6	ORPHA:334
HP:0001751	Abnormal vestibular function	4878	NPPA	ORPHA:334
HP:0001751	Abnormal vestibular function	4878	NPPA	ORPHA:1344
HP:0001751	Abnormal vestibular function	55800	SCN3B	ORPHA:334
HP:0001751	Abnormal vestibular function	9992	KCNE2	ORPHA:334
HP:0001751	Abnormal vestibular function	2626	GATA4	ORPHA:334
HP:0001751	Abnormal vestibular function	2627	GATA6	ORPHA:334
HP:0001751	Abnormal vestibular function	5308	PITX2	ORPHA:334
HP:0001751	Abnormal vestibular function	6327	SCN2B	ORPHA:334
HP:0001751	Abnormal vestibular function	140628	GATA5	ORPHA:334
HP:0001751	Abnormal vestibular function	3759	KCNJ2	ORPHA:334
HP:0001751	Abnormal vestibular function	3784	KCNQ1	ORPHA:334
HP:0001751	Abnormal vestibular function	6324	SCN1B	ORPHA:334
HP:0001751	Abnormal vestibular function	6324	SCN1B	ORPHA:871
HP:0001751	Abnormal vestibular function	6331	SCN5A	ORPHA:334
HP:0001751	Abnormal vestibular function	6331	SCN5A	ORPHA:1344
HP:0001751	Abnormal vestibular function	6331	SCN5A	ORPHA:871
HP:0001751	Abnormal vestibular function	6330	SCN4B	ORPHA:334
HP:0001751	Abnormal vestibular function	3741	KCNA5	ORPHA:334
HP:0001751	Abnormal vestibular function	7273	TTN	ORPHA:334
HP:0001751	Abnormal vestibular function	9631	NUP155	ORPHA:334
HP:0001751	Abnormal vestibular function	4633	MYL2	OMIM:608758
HP:0001751	Abnormal vestibular function	2642	GCGR	OMIM:619290
HP:0001751	Abnormal vestibular function	9131	AIFM1	OMIM:300614
HP:0001751	Abnormal vestibular function	6326	SCN2A	OMIM:618924
HP:0001751	Abnormal vestibular function	6326	SCN2A	ORPHA:140927
HP:0001751	Abnormal vestibular function	2717	GLA	ORPHA:324
HP:0001751	Abnormal vestibular function	112476	PRRT2	ORPHA:569
HP:0001751	Abnormal vestibular function	6323	SCN1A	ORPHA:569
HP:0001751	Abnormal vestibular function	6323	SCN1A	ORPHA:2382
HP:0001751	Abnormal vestibular function	477	ATP1A2	ORPHA:569
HP:0001751	Abnormal vestibular function	477	ATP1A2	OMIM:602481
HP:0001751	Abnormal vestibular function	1281	COL3A1	ORPHA:286
HP:0001751	Abnormal vestibular function	3785	KCNQ2	ORPHA:140927
HP:0001751	Abnormal vestibular function	1759	DNM1	ORPHA:2382
HP:0001751	Abnormal vestibular function	2562	GABRB3	ORPHA:2382
HP:0001751	Abnormal vestibular function	5602	MAPK10	ORPHA:2382
HP:0001751	Abnormal vestibular function	23316	CUX2	ORPHA:2382
HP:0001751	Abnormal vestibular function	1106	CHD2	ORPHA:2382
HP:0001751	Abnormal vestibular function	2992	GYG1	ORPHA:263297
HP:0001751	Abnormal vestibular function	54805	CNNM2	OMIM:613882
HP:0001751	Abnormal vestibular function	190	NR0B1	ORPHA:95702
HP:0001751	Abnormal vestibular function	595	CCND1	OMIM:193300
HP:0001751	Abnormal vestibular function	595	CCND1	ORPHA:892
HP:0001751	Abnormal vestibular function	7428	VHL	OMIM:193300
HP:0001751	Abnormal vestibular function	7428	VHL	ORPHA:892
HP:0001751	Abnormal vestibular function	27010	TPK1	OMIM:614458
HP:0001751	Abnormal vestibular function	10528	NOP56	ORPHA:276198
HP:0001751	Abnormal vestibular function	2313	FLI1	ORPHA:370348
HP:0001751	Abnormal vestibular function	1499	CTNNB1	ORPHA:54595
HP:0001751	Abnormal vestibular function	673	BRAF	ORPHA:54595
HP:0001751	Abnormal vestibular function	2259	FGF14	OMIM:620174
HP:0001751	Abnormal vestibular function	4771	NF2	OMIM:101000
HP:0001751	Abnormal vestibular function	54795	TRPM4	ORPHA:871
HP:0001751	Abnormal vestibular function	10019	SH2B3	OMIM:133100
HP:0001751	Abnormal vestibular function	10019	SH2B3	ORPHA:3318
HP:0001751	Abnormal vestibular function	1621	DBH	ORPHA:230
HP:0001751	Abnormal vestibular function	51684	SUFU	OMIM:620343
HP:0001751	Abnormal vestibular function	26576	SRPK3	OMIM:301134
HP:0001751	Abnormal vestibular function	30813	VSX1	OMIM:614195
HP:0001751	Abnormal vestibular function	801	CALM1	OMIM:614916
HP:0001751	Abnormal vestibular function	801	CALM1	ORPHA:3286
HP:0001751	Abnormal vestibular function	9968	MED12	OMIM:301068
HP:0001751	Abnormal vestibular function	8913	CACNA1G	ORPHA:458803
HP:0001751	Abnormal vestibular function	6389	SDHA	OMIM:619259
HP:0001751	Abnormal vestibular function	22943	DKK1	ORPHA:268882
HP:0001751	Abnormal vestibular function	4668	NAGA	ORPHA:79280
HP:0001751	Abnormal vestibular function	4668	NAGA	OMIM:609242
HP:0001751	Abnormal vestibular function	4668	NAGA	ORPHA:79279
HP:0001751	Abnormal vestibular function	2624	GATA2	ORPHA:228423
HP:0001751	Abnormal vestibular function	805	CALM2	ORPHA:3286
HP:0001751	Abnormal vestibular function	253017	TECRL	ORPHA:3286
HP:0001751	Abnormal vestibular function	10345	TRDN	ORPHA:3286
HP:0001751	Abnormal vestibular function	808	CALM3	ORPHA:3286
HP:0001751	Abnormal vestibular function	845	CASQ2	ORPHA:3286
HP:0001751	Abnormal vestibular function	6262	RYR2	ORPHA:3286
HP:0001751	Abnormal vestibular function	3593	IL12B	ORPHA:3287
HP:0001751	Abnormal vestibular function	6945	MLX	ORPHA:3287
HP:0001751	Abnormal vestibular function	6774	STAT3	ORPHA:520
HP:0001751	Abnormal vestibular function	5371	PML	ORPHA:520
HP:0001751	Abnormal vestibular function	5914	RARA	ORPHA:520
HP:0001751	Abnormal vestibular function	359948	IRF2BP2	ORPHA:520
HP:0001751	Abnormal vestibular function	81608	FIP1L1	ORPHA:520
HP:0001751	Abnormal vestibular function	4869	NPM1	ORPHA:520
HP:0001751	Abnormal vestibular function	5573	PRKAR1A	ORPHA:520
HP:0001751	Abnormal vestibular function	54880	BCOR	ORPHA:520
HP:0001751	Abnormal vestibular function	64859	NABP1	ORPHA:520
HP:0001751	Abnormal vestibular function	6777	STAT5B	ORPHA:520
HP:0001751	Abnormal vestibular function	4926	NUMA1	ORPHA:520
HP:0001751	Abnormal vestibular function	7704	ZBTB16	ORPHA:520
HP:0001751	Abnormal vestibular function	79718	TBL1XR1	ORPHA:520
HP:0001751	Abnormal vestibular function	4615	MYD88	ORPHA:33226
HP:0001751	Abnormal vestibular function	355	FAS	ORPHA:3437
HP:0001751	Abnormal vestibular function	355	FAS	ORPHA:117
HP:0001751	Abnormal vestibular function	811	CALR	ORPHA:3318
HP:0001751	Abnormal vestibular function	7157	TP53	ORPHA:3318
HP:0001751	Abnormal vestibular function	54790	TET2	ORPHA:3318
HP:0001751	Abnormal vestibular function	6559	SLC12A3	OMIM:263800
HP:0001751	Abnormal vestibular function	6559	SLC12A3	ORPHA:358
HP:0001751	Abnormal vestibular function	1188	CLCNKB	ORPHA:358
HP:0001751	Abnormal vestibular function	149233	IL23R	ORPHA:117
HP:0001751	Abnormal vestibular function	6775	STAT4	ORPHA:117
HP:0001751	Abnormal vestibular function	3586	IL10	ORPHA:117
HP:0001751	Abnormal vestibular function	4210	MEFV	ORPHA:117
HP:0001751	Abnormal vestibular function	1230	CCR1	ORPHA:117
HP:0001751	Abnormal vestibular function	3592	IL12A	ORPHA:117
HP:0001751	Abnormal vestibular function	101928376	IL12A-AS1	ORPHA:117
HP:0001751	Abnormal vestibular function	7099	TLR4	ORPHA:117
HP:0001751	Abnormal vestibular function	3459	IFNGR1	ORPHA:117
HP:0001751	Abnormal vestibular function	720	C4A	ORPHA:117
HP:0001751	Abnormal vestibular function	337867	UBAC2	ORPHA:117
HP:0001751	Abnormal vestibular function	51752	ERAP1	ORPHA:117
HP:0001751	Abnormal vestibular function	8302	KLRC4	ORPHA:117
HP:0001751	Abnormal vestibular function	81790	RNF170	OMIM:608984
HP:0001751	Abnormal vestibular function	54845	ESRP1	OMIM:618013
HP:0001751	Abnormal vestibular function	5981	RFC1	OMIM:614575
HP:0001751	Abnormal vestibular function	5981	RFC1	ORPHA:504476
HP:0001751	Abnormal vestibular function	1743	DLST	ORPHA:29072
HP:0001751	Abnormal vestibular function	4191	MDH2	ORPHA:29072
HP:0001751	Abnormal vestibular function	5979	RET	ORPHA:29072
HP:0001751	Abnormal vestibular function	5979	RET	ORPHA:276621
HP:0001751	Abnormal vestibular function	23095	KIF1B	ORPHA:29072
HP:0001751	Abnormal vestibular function	2271	FH	ORPHA:29072
HP:0001751	Abnormal vestibular function	8402	SLC25A11	ORPHA:29072
HP:0001751	Abnormal vestibular function	54949	SDHAF2	ORPHA:29072
HP:0001751	Abnormal vestibular function	55654	TMEM127	ORPHA:29072
HP:0001751	Abnormal vestibular function	4763	NF1	ORPHA:29072
HP:0001751	Abnormal vestibular function	6391	SDHC	ORPHA:29072
HP:0001751	Abnormal vestibular function	6392	SDHD	ORPHA:29072
HP:0001751	Abnormal vestibular function	6392	SDHD	ORPHA:276621
HP:0001751	Abnormal vestibular function	6390	SDHB	ORPHA:29072
HP:0001751	Abnormal vestibular function	6390	SDHB	ORPHA:276621
HP:0001751	Abnormal vestibular function	4149	MAX	ORPHA:29072
HP:0001751	Abnormal vestibular function	1788	DNMT3A	ORPHA:276621
HP:0001751	Abnormal vestibular function	2034	EPAS1	ORPHA:276621
HP:0001751	Abnormal vestibular function	2395	FXN	ORPHA:95
HP:0007925	Lacrimal duct aplasia	2255	FGF10	OMIM:620193
HP:0007925	Lacrimal duct aplasia	2255	FGF10	ORPHA:2363
HP:0007925	Lacrimal duct aplasia	2261	FGFR3	OMIM:620192
HP:0007925	Lacrimal duct aplasia	2261	FGFR3	ORPHA:2363
HP:0007925	Lacrimal duct aplasia	2263	FGFR2	ORPHA:2363
HP:0007925	Lacrimal duct aplasia	341640	FREM2	ORPHA:2052
HP:0007925	Lacrimal duct aplasia	80144	FRAS1	ORPHA:2052
HP:0007925	Lacrimal duct aplasia	80144	FRAS1	OMIM:219000
HP:0007925	Lacrimal duct aplasia	23426	GRIP1	ORPHA:2052
HP:0007925	Lacrimal duct aplasia	8295	TRRAP	OMIM:618454
HP:0007925	Lacrimal duct aplasia	8085	KMT2D	OMIM:620186
HP:0007925	Lacrimal duct aplasia	2138	EYA1	OMIM:113650
HP:0007925	Lacrimal duct aplasia	2138	EYA1	ORPHA:107
HP:0007925	Lacrimal duct aplasia	6495	SIX1	OMIM:113650
HP:0007925	Lacrimal duct aplasia	6495	SIX1	ORPHA:107
HP:0007925	Lacrimal duct aplasia	147912	SIX5	ORPHA:107
HP:0025501	Class III obesity	54805	CNNM2	OMIM:616418
HP:0025501	Class III obesity	100033413	SNORD116-1	OMIM:176270
HP:0025501	Class III obesity	8924	HERC2	OMIM:176270
HP:0025501	Class III obesity	23742	NPAP1	OMIM:176270
HP:0025501	Class III obesity	338433	SNORD115-1	OMIM:176270
HP:0025501	Class III obesity	54551	MAGEL2	OMIM:176270
HP:0025501	Class III obesity	7681	MKRN3	OMIM:176270
HP:0025501	Class III obesity	145624	PWAR1	OMIM:176270
HP:0025501	Class III obesity	3653	IPW	OMIM:176270
HP:0025501	Class III obesity	791114	PWRN1	OMIM:176270
HP:0025502	Overweight	3767	KCNJ11	ORPHA:552
HP:0025502	Overweight	8462	KLF11	ORPHA:552
HP:0025502	Overweight	2645	GCK	ORPHA:552
HP:0025502	Overweight	26060	APPL1	ORPHA:552
HP:0025502	Overweight	640	BLK	ORPHA:552
HP:0025502	Overweight	640	BLK	OMIM:613375
HP:0025502	Overweight	1056	CEL	ORPHA:552
HP:0025502	Overweight	4760	NEUROD1	ORPHA:552
HP:0025502	Overweight	3651	PDX1	ORPHA:552
HP:0025502	Overweight	6833	ABCC8	ORPHA:552
HP:0025502	Overweight	5078	PAX4	ORPHA:552
HP:0025502	Overweight	3172	HNF4A	ORPHA:552
HP:0025502	Overweight	6927	HNF1A	ORPHA:552
HP:0025502	Overweight	3630	INS	ORPHA:552
HP:0025502	Overweight	84679	SLC9A7	OMIM:301024
HP:0025502	Overweight	10717	AP4B1	ORPHA:280763
HP:0025502	Overweight	10717	AP4B1	OMIM:614066
HP:0025502	Overweight	9179	AP4M1	ORPHA:280763
HP:0025502	Overweight	11154	AP4S1	ORPHA:280763
HP:0025502	Overweight	23431	AP4E1	ORPHA:280763
HP:0025502	Overweight	23431	AP4E1	OMIM:613744
HP:0025502	Overweight	57551	TAOK1	OMIM:619575
HP:0025502	Overweight	7874	USP7	ORPHA:500055
HP:0025502	Overweight	55870	ASH1L	OMIM:617796
HP:0025502	Overweight	57680	CHD8	OMIM:615032
HP:0025502	Overweight	146862	UNC45B	OMIM:619178
HP:0025502	Overweight	6711	SPTBN1	OMIM:619475
HP:0025502	Overweight	1387	CREBBP	ORPHA:592574
HP:0025502	Overweight	5626	PROP1	ORPHA:226307
HP:0025502	Overweight	89884	LHX4	ORPHA:226307
HP:0025502	Overweight	8022	LHX3	ORPHA:226307
HP:0025502	Overweight	5449	POU1F1	ORPHA:226307
HP:0025502	Overweight	8820	HESX1	ORPHA:226307
HP:0025502	Overweight	22859	ADGRL1	OMIM:620065
HP:0025502	Overweight	7201	TRHR	ORPHA:99832
HP:0025502	Overweight	37	ACADVL	ORPHA:26793
HP:0025502	Overweight	1513	CTSK	ORPHA:763
HP:0025502	Overweight	23040	MYT1L	ORPHA:647799
HP:0025502	Overweight	5244	ABCB4	ORPHA:69663
HP:0025502	Overweight	130340	AP1S3	ORPHA:247353
HP:0025502	Overweight	26525	IL36RN	ORPHA:247353
HP:0025502	Overweight	27086	FOXP1	ORPHA:391372
HP:0025502	Overweight	4000	LMNA	OMIM:151660
HP:0025502	Overweight	219854	TMEM218	OMIM:619562
HP:0025502	Overweight	3547	IGSF1	OMIM:300888
HP:0025502	Overweight	80208	SPG11	ORPHA:2822
HP:0025502	Overweight	23590	PDSS1	OMIM:614651
HP:0025502	Overweight	79813	EHMT1	OMIM:610253
HP:0025502	Overweight	6304	SATB1	OMIM:619229
HP:0025502	Overweight	157657	CFAP418	OMIM:617406
HP:0025502	Overweight	57187	THOC2	ORPHA:457240
HP:0025502	Overweight	51341	ZBTB7A	OMIM:619769
HP:0025502	Overweight	9325	TRIP4	ORPHA:486815
HP:0025507	Yellow papule	2677	GGCX	OMIM:610842
HP:0025507	Yellow papule	368	ABCC6	OMIM:177850
HP:0025507	Yellow papule	368	ABCC6	OMIM:264800
HP:0025507	Yellow papule	64131	XYLT1	OMIM:264800
HP:0025507	Yellow papule	64132	XYLT2	OMIM:264800
HP:0025509	Piezogenic pedal papules	1277	COL1A1	ORPHA:287
HP:0025509	Piezogenic pedal papules	1289	COL5A1	ORPHA:287
HP:0025509	Piezogenic pedal papules	1290	COL5A2	ORPHA:287
HP:0025509	Piezogenic pedal papules	7058	THBS2	OMIM:620865
HP:0025509	Piezogenic pedal papules	165	AEBP1	ORPHA:536532
HP:0030807	Abnormal nail growth	10804	GJB6	ORPHA:189
HP:0030804	Trachyonychia	4791	NFKB2	OMIM:615577
HP:0030804	Trachyonychia	8323	FZD6	OMIM:161050
HP:0030802	Lower eyelid retraction	6452	SH3BP2	OMIM:118400
HP:0030800	Abnormal visual accommodation	8314	BAP1	ORPHA:39044
HP:0030800	Abnormal visual accommodation	57105	CYSLTR2	ORPHA:39044
HP:0030800	Abnormal visual accommodation	2776	GNAQ	ORPHA:39044
HP:0030800	Abnormal visual accommodation	2767	GNA11	ORPHA:39044
HP:0030800	Abnormal visual accommodation	23451	SF3B1	ORPHA:39044
HP:0030809	Abnormal tongue morphology	11160	ERLIN2	ORPHA:280384
HP:0030809	Abnormal tongue morphology	11160	ERLIN2	ORPHA:209951
HP:0030809	Abnormal tongue morphology	8450	CUL4B	OMIM:300354
HP:0030809	Abnormal tongue morphology	51422	PRKAG2	OMIM:261740
HP:0030809	Abnormal tongue morphology	9158	FIBP	ORPHA:500095
HP:0030809	Abnormal tongue morphology	9158	FIBP	OMIM:617107
HP:0030809	Abnormal tongue morphology	9927	MFN2	OMIM:151800
HP:0030809	Abnormal tongue morphology	652	BMP4	ORPHA:828
HP:0030809	Abnormal tongue morphology	56623	INPP5E	OMIM:213300
HP:0030809	Abnormal tongue morphology	79813	EHMT1	ORPHA:96147
HP:0030809	Abnormal tongue morphology	79813	EHMT1	OMIM:610253
HP:0030809	Abnormal tongue morphology	546	ATRX	OMIM:301040
HP:0030809	Abnormal tongue morphology	546	ATRX	ORPHA:847
HP:0030809	Abnormal tongue morphology	546	ATRX	OMIM:309580
HP:0030809	Abnormal tongue morphology	411	ARSB	OMIM:253200
HP:0030809	Abnormal tongue morphology	3190	HNRNPK	ORPHA:453504
HP:0030809	Abnormal tongue morphology	3190	HNRNPK	ORPHA:352665
HP:0030809	Abnormal tongue morphology	4125	MAN2B1	ORPHA:309282
HP:0030809	Abnormal tongue morphology	4125	MAN2B1	ORPHA:309288
HP:0030809	Abnormal tongue morphology	4125	MAN2B1	OMIM:248500
HP:0030809	Abnormal tongue morphology	27125	AFF4	ORPHA:444077
HP:0030809	Abnormal tongue morphology	7849	PAX8	OMIM:218700
HP:0030809	Abnormal tongue morphology	7849	PAX8	ORPHA:95720
HP:0030809	Abnormal tongue morphology	7849	PAX8	ORPHA:95713
HP:0030809	Abnormal tongue morphology	7849	PAX8	ORPHA:95712
HP:0030809	Abnormal tongue morphology	91754	NEK9	OMIM:617022
HP:0030809	Abnormal tongue morphology	729920	CRPPA	OMIM:616052
HP:0030809	Abnormal tongue morphology	729920	CRPPA	ORPHA:352479
HP:0030809	Abnormal tongue morphology	388015	RTL1	ORPHA:254528
HP:0030809	Abnormal tongue morphology	388015	RTL1	ORPHA:96334
HP:0030809	Abnormal tongue morphology	8788	DLK1	ORPHA:254528
HP:0030809	Abnormal tongue morphology	8788	DLK1	ORPHA:96334
HP:0030809	Abnormal tongue morphology	55384	MEG3	ORPHA:254528
HP:0030809	Abnormal tongue morphology	55384	MEG3	ORPHA:96334
HP:0030809	Abnormal tongue morphology	3074	HEXB	OMIM:268800
HP:0030809	Abnormal tongue morphology	65082	VPS33A	OMIM:617303
HP:0030809	Abnormal tongue morphology	65082	VPS33A	ORPHA:505248
HP:0030809	Abnormal tongue morphology	526	ATP6V1B2	OMIM:616455
HP:0030809	Abnormal tongue morphology	526	ATP6V1B2	ORPHA:3473
HP:0030809	Abnormal tongue morphology	10758	TRAF3IP2	OMIM:615527
HP:0030809	Abnormal tongue morphology	10084	PQBP1	ORPHA:93947
HP:0030809	Abnormal tongue morphology	2720	GLB1	ORPHA:79255
HP:0030809	Abnormal tongue morphology	79158	GNPTAB	OMIM:252500
HP:0030809	Abnormal tongue morphology	271	AMPD2	OMIM:615809
HP:0030809	Abnormal tongue morphology	3908	LAMA2	ORPHA:258
HP:0030809	Abnormal tongue morphology	57231	SNX14	ORPHA:397709
HP:0030809	Abnormal tongue morphology	57231	SNX14	OMIM:616354
HP:0030809	Abnormal tongue morphology	5189	PEX1	OMIM:214100
HP:0030809	Abnormal tongue morphology	3767	KCNJ11	ORPHA:99886
HP:0030809	Abnormal tongue morphology	346171	ZFP57	ORPHA:99886
HP:0030809	Abnormal tongue morphology	57061	HYMAI	ORPHA:99886
HP:0030809	Abnormal tongue morphology	57061	HYMAI	ORPHA:96191
HP:0030809	Abnormal tongue morphology	6833	ABCC8	ORPHA:99886
HP:0030809	Abnormal tongue morphology	5325	PLAGL1	ORPHA:99886
HP:0030809	Abnormal tongue morphology	5325	PLAGL1	ORPHA:96191
HP:0030809	Abnormal tongue morphology	7253	TSHR	ORPHA:90673
HP:0030809	Abnormal tongue morphology	7253	TSHR	ORPHA:95720
HP:0030809	Abnormal tongue morphology	7253	TSHR	ORPHA:95713
HP:0030809	Abnormal tongue morphology	79147	FKRP	OMIM:607155
HP:0030809	Abnormal tongue morphology	79147	FKRP	OMIM:606612
HP:0030809	Abnormal tongue morphology	79147	FKRP	ORPHA:370959
HP:0030809	Abnormal tongue morphology	5172	SLC26A4	ORPHA:95720
HP:0030809	Abnormal tongue morphology	5172	SLC26A4	ORPHA:95713
HP:0030809	Abnormal tongue morphology	7252	TSHB	ORPHA:90674
HP:0030809	Abnormal tongue morphology	7252	TSHB	OMIM:275100
HP:0030809	Abnormal tongue morphology	55777	MBD5	OMIM:156200
HP:0030809	Abnormal tongue morphology	10940	POP1	OMIM:617396
HP:0030809	Abnormal tongue morphology	405753	DUOXA2	ORPHA:95716
HP:0030809	Abnormal tongue morphology	6528	SLC5A5	ORPHA:95716
HP:0030809	Abnormal tongue morphology	6528	SLC5A5	OMIM:274400
HP:0030809	Abnormal tongue morphology	7038	TG	ORPHA:95716
HP:0030809	Abnormal tongue morphology	7173	TPO	ORPHA:95716
HP:0030809	Abnormal tongue morphology	389434	IYD	ORPHA:95716
HP:0030809	Abnormal tongue morphology	50506	DUOX2	ORPHA:95716
HP:0030809	Abnormal tongue morphology	50506	DUOX2	ORPHA:226316
HP:0030809	Abnormal tongue morphology	7080	NKX2-1	ORPHA:95713
HP:0030809	Abnormal tongue morphology	1482	NKX2-5	ORPHA:95713
HP:0030809	Abnormal tongue morphology	1482	NKX2-5	ORPHA:95712
HP:0030809	Abnormal tongue morphology	2304	FOXE1	ORPHA:95713
HP:0030809	Abnormal tongue morphology	3423	IDS	ORPHA:217085
HP:0030809	Abnormal tongue morphology	3423	IDS	ORPHA:217093
HP:0030809	Abnormal tongue morphology	3423	IDS	OMIM:309900
HP:0030809	Abnormal tongue morphology	3572	IL6ST	OMIM:618523
HP:0030809	Abnormal tongue morphology	93627	TBCK	OMIM:616900
HP:0030809	Abnormal tongue morphology	93627	TBCK	ORPHA:488632
HP:0030809	Abnormal tongue morphology	8289	ARID1A	OMIM:614607
HP:0030809	Abnormal tongue morphology	23389	MED13L	ORPHA:369891
HP:0030809	Abnormal tongue morphology	23389	MED13L	OMIM:616789
HP:0030809	Abnormal tongue morphology	83550	GPR101	ORPHA:963
HP:0030809	Abnormal tongue morphology	9049	AIP	ORPHA:963
HP:0030809	Abnormal tongue morphology	6598	SMARCB1	OMIM:614608
HP:0030809	Abnormal tongue morphology	6597	SMARCA4	OMIM:614609
HP:0030809	Abnormal tongue morphology	60	ACTB	ORPHA:79107
HP:0030809	Abnormal tongue morphology	3265	HRAS	ORPHA:3071
HP:0030809	Abnormal tongue morphology	3265	HRAS	OMIM:218040
HP:0030809	Abnormal tongue morphology	10483	SEC23B	ORPHA:201
HP:0030809	Abnormal tongue morphology	5728	PTEN	ORPHA:201
HP:0030809	Abnormal tongue morphology	5728	PTEN	ORPHA:65285
HP:0030809	Abnormal tongue morphology	6390	SDHB	ORPHA:201
HP:0030809	Abnormal tongue morphology	6392	SDHD	ORPHA:201
HP:0030809	Abnormal tongue morphology	6391	SDHC	ORPHA:201
HP:0030809	Abnormal tongue morphology	207	AKT1	ORPHA:201
HP:0030809	Abnormal tongue morphology	205717	USF3	ORPHA:201
HP:0030809	Abnormal tongue morphology	5290	PIK3CA	ORPHA:201
HP:0030809	Abnormal tongue morphology	100144748	KLLN	ORPHA:201
HP:0030809	Abnormal tongue morphology	112812	FDX2	OMIM:251900
HP:0030809	Abnormal tongue morphology	4556	MT-TE	ORPHA:254864
HP:0030809	Abnormal tongue morphology	55687	TRMU	ORPHA:254864
HP:0030809	Abnormal tongue morphology	7067	THRA	OMIM:614450
HP:0030809	Abnormal tongue morphology	29128	UHRF1	ORPHA:2268
HP:0030809	Abnormal tongue morphology	3070	HELLS	ORPHA:2268
HP:0030809	Abnormal tongue morphology	1789	DNMT3B	ORPHA:2268
HP:0030809	Abnormal tongue morphology	1789	DNMT3B	OMIM:242860
HP:0030809	Abnormal tongue morphology	83879	CDCA7	ORPHA:2268
HP:0030809	Abnormal tongue morphology	9841	ZBTB24	ORPHA:2268
HP:0030809	Abnormal tongue morphology	6023	RMRP	OMIM:607095
HP:0030809	Abnormal tongue morphology	175	AGA	OMIM:208400
HP:0030809	Abnormal tongue morphology	175	AGA	ORPHA:93
HP:0030809	Abnormal tongue morphology	3756	KCNH1	ORPHA:3473
HP:0030809	Abnormal tongue morphology	3782	KCNN3	ORPHA:3473
HP:0030809	Abnormal tongue morphology	3425	IDUA	OMIM:607014
HP:0030809	Abnormal tongue morphology	3425	IDUA	ORPHA:93473
HP:0030809	Abnormal tongue morphology	26040	SETBP1	OMIM:269150
HP:0030809	Abnormal tongue morphology	26040	SETBP1	ORPHA:798
HP:0030809	Abnormal tongue morphology	26834	RNU4-2	OMIM:620851
HP:0030809	Abnormal tongue morphology	6445	SGCG	ORPHA:353
HP:0030809	Abnormal tongue morphology	9653	HS2ST1	OMIM:619194
HP:0030809	Abnormal tongue morphology	2290	FOXG1	ORPHA:261144
HP:0030809	Abnormal tongue morphology	57003	CCDC47	OMIM:618268
HP:0030809	Abnormal tongue morphology	10526	IPO8	OMIM:619472
HP:0030809	Abnormal tongue morphology	23126	POGZ	OMIM:616364
HP:0030809	Abnormal tongue morphology	94005	PIGS	OMIM:618143
HP:0030809	Abnormal tongue morphology	5626	PROP1	ORPHA:226307
HP:0030809	Abnormal tongue morphology	89884	LHX4	ORPHA:226307
HP:0030809	Abnormal tongue morphology	8022	LHX3	ORPHA:226307
HP:0030809	Abnormal tongue morphology	5449	POU1F1	ORPHA:226307
HP:0030809	Abnormal tongue morphology	5449	POU1F1	OMIM:613038
HP:0030809	Abnormal tongue morphology	8820	HESX1	ORPHA:226307
HP:0030809	Abnormal tongue morphology	2517	FUCA1	OMIM:230000
HP:0030809	Abnormal tongue morphology	2548	GAA	OMIM:232300
HP:0030809	Abnormal tongue morphology	2548	GAA	ORPHA:308552
HP:0030809	Abnormal tongue morphology	51692	CPSF3	OMIM:619876
HP:0030809	Abnormal tongue morphology	6804	STX1A	ORPHA:904
HP:0030809	Abnormal tongue morphology	7461	CLIP2	ORPHA:904
HP:0030809	Abnormal tongue morphology	84277	DNAJC30	ORPHA:904
HP:0030809	Abnormal tongue morphology	8468	FKBP6	ORPHA:904
HP:0030809	Abnormal tongue morphology	5982	RFC2	ORPHA:904
HP:0030809	Abnormal tongue morphology	2969	GTF2I	ORPHA:904
HP:0030809	Abnormal tongue morphology	3984	LIMK1	ORPHA:904
HP:0030809	Abnormal tongue morphology	9569	GTF2IRD1	ORPHA:904
HP:0030809	Abnormal tongue morphology	155382	VPS37D	ORPHA:904
HP:0030809	Abnormal tongue morphology	155368	METTL27	ORPHA:904
HP:0030809	Abnormal tongue morphology	114049	BUD23	ORPHA:904
HP:0030809	Abnormal tongue morphology	7458	EIF4H	ORPHA:904
HP:0030809	Abnormal tongue morphology	84163	GTF2IRD2	ORPHA:904
HP:0030809	Abnormal tongue morphology	26608	TBL2	ORPHA:904
HP:0030809	Abnormal tongue morphology	653361	NCF1	ORPHA:904
HP:0030809	Abnormal tongue morphology	135886	TMEM270	ORPHA:904
HP:0030809	Abnormal tongue morphology	9031	BAZ1B	ORPHA:904
HP:0030809	Abnormal tongue morphology	2006	ELN	ORPHA:904
HP:0030809	Abnormal tongue morphology	79753	SNIP1	OMIM:614501
HP:0030809	Abnormal tongue morphology	7337	UBE3A	OMIM:105830
HP:0030809	Abnormal tongue morphology	6638	SNRPN	OMIM:105830
HP:0030809	Abnormal tongue morphology	29925	GMPPB	ORPHA:370959
HP:0030809	Abnormal tongue morphology	29954	POMT2	ORPHA:370959
HP:0030809	Abnormal tongue morphology	29954	POMT2	OMIM:613150
HP:0030809	Abnormal tongue morphology	29954	POMT2	OMIM:613156
HP:0030809	Abnormal tongue morphology	84197	POMK	ORPHA:370959
HP:0030809	Abnormal tongue morphology	55624	POMGNT1	ORPHA:370959
HP:0030809	Abnormal tongue morphology	10585	POMT1	ORPHA:370959
HP:0030809	Abnormal tongue morphology	10585	POMT1	OMIM:613155
HP:0030809	Abnormal tongue morphology	6288	SAA1	ORPHA:85445
HP:0030809	Abnormal tongue morphology	2799	GNS	OMIM:252940
HP:0030809	Abnormal tongue morphology	9215	LARGE1	OMIM:608840
HP:0030809	Abnormal tongue morphology	4920	ROR2	OMIM:268310
HP:0030809	Abnormal tongue morphology	2239	GPC4	ORPHA:373
HP:0030809	Abnormal tongue morphology	2239	GPC4	OMIM:312870
HP:0030809	Abnormal tongue morphology	2719	GPC3	ORPHA:373
HP:0030809	Abnormal tongue morphology	2719	GPC3	OMIM:312870
HP:0030809	Abnormal tongue morphology	4123	MAN2C1	OMIM:619775
HP:0030809	Abnormal tongue morphology	54941	RNF125	OMIM:616260
HP:0030809	Abnormal tongue morphology	284098	PIGW	OMIM:616025
HP:0030809	Abnormal tongue morphology	10020	GNE	OMIM:269921
HP:0030809	Abnormal tongue morphology	1028	CDKN1C	OMIM:130650
HP:0030809	Abnormal tongue morphology	3481	IGF2	OMIM:130650
HP:0030809	Abnormal tongue morphology	3784	KCNQ1	OMIM:130650
HP:0030809	Abnormal tongue morphology	10984	KCNQ1OT1	OMIM:130650
HP:0030809	Abnormal tongue morphology	5286	PIK3C2A	OMIM:618440
HP:0030809	Abnormal tongue morphology	2990	GUSB	OMIM:253220
HP:0030809	Abnormal tongue morphology	3643	INSR	ORPHA:769
HP:0030809	Abnormal tongue morphology	55679	LIMS2	OMIM:616827
HP:0030809	Abnormal tongue morphology	29929	ALG6	ORPHA:79320
HP:0030809	Abnormal tongue morphology	10195	ALG3	ORPHA:79321
HP:0030809	Abnormal tongue morphology	5468	PPARG	ORPHA:528
HP:0030809	Abnormal tongue morphology	10555	AGPAT2	ORPHA:528
HP:0030809	Abnormal tongue morphology	284119	CAVIN1	ORPHA:528
HP:0030809	Abnormal tongue morphology	26580	BSCL2	ORPHA:528
HP:0030809	Abnormal tongue morphology	2353	FOS	ORPHA:528
HP:0030809	Abnormal tongue morphology	857	CAV1	ORPHA:528
HP:0030809	Abnormal tongue morphology	3778	KCNMA1	OMIM:618729
HP:0030809	Abnormal tongue morphology	7474	WNT5A	OMIM:180700
HP:0030809	Abnormal tongue morphology	1855	DVL1	OMIM:180700
HP:0030809	Abnormal tongue morphology	79053	ALG8	ORPHA:79325
HP:0030809	Abnormal tongue morphology	9742	IFT140	OMIM:266920
HP:0030809	Abnormal tongue morphology	7543	ZFX	OMIM:301118
HP:0030809	Abnormal tongue morphology	27133	KCNH5	OMIM:620537
HP:0030809	Abnormal tongue morphology	5696	PSMB8	OMIM:256040
HP:0030809	Abnormal tongue morphology	695	BTK	ORPHA:47
HP:0030809	Abnormal tongue morphology	4784	NFIX	OMIM:602535
HP:0030809	Abnormal tongue morphology	6628	SNRPB	OMIM:117650
HP:0030809	Abnormal tongue morphology	6628	SNRPB	ORPHA:1393
HP:0030809	Abnormal tongue morphology	340419	RSPO2	OMIM:618021
HP:0030809	Abnormal tongue morphology	23483	TGDS	OMIM:616145
HP:0030809	Abnormal tongue morphology	23483	TGDS	ORPHA:1388
HP:0030809	Abnormal tongue morphology	1909	EDNRA	OMIM:616367
HP:0030809	Abnormal tongue morphology	5332	PLCB4	OMIM:614669
HP:0030809	Abnormal tongue morphology	5332	PLCB4	ORPHA:137888
HP:0030809	Abnormal tongue morphology	347734	SLC35B2	OMIM:620269
HP:0030809	Abnormal tongue morphology	1280	COL2A1	ORPHA:94068
HP:0030809	Abnormal tongue morphology	1280	COL2A1	ORPHA:166100
HP:0030809	Abnormal tongue morphology	1280	COL2A1	ORPHA:93346
HP:0030809	Abnormal tongue morphology	1302	COL11A2	ORPHA:1427
HP:0030809	Abnormal tongue morphology	1302	COL11A2	ORPHA:166100
HP:0030809	Abnormal tongue morphology	84172	POLR1B	ORPHA:861
HP:0030809	Abnormal tongue morphology	9533	POLR1C	ORPHA:861
HP:0030809	Abnormal tongue morphology	51082	POLR1D	ORPHA:861
HP:0030809	Abnormal tongue morphology	6949	TCOF1	ORPHA:861
HP:0030809	Abnormal tongue morphology	9896	FIG4	ORPHA:3472
HP:0030809	Abnormal tongue morphology	55697	VAC14	ORPHA:3472
HP:0030809	Abnormal tongue morphology	23114	NFASC	OMIM:618356
HP:0030809	Abnormal tongue morphology	860	RUNX2	ORPHA:1452
HP:0030809	Abnormal tongue morphology	6662	SOX9	ORPHA:718
HP:0030809	Abnormal tongue morphology	9409	PEX16	OMIM:614876
HP:0030809	Abnormal tongue morphology	1906	EDN1	ORPHA:137888
HP:0030809	Abnormal tongue morphology	1906	EDN1	OMIM:615706
HP:0030809	Abnormal tongue morphology	2773	GNAI3	ORPHA:137888
HP:0030809	Abnormal tongue morphology	2773	GNAI3	OMIM:602483
HP:0030809	Abnormal tongue morphology	9734	HDAC9	OMIM:620457
HP:0030809	Abnormal tongue morphology	389827	MYMK	OMIM:254940
HP:0030809	Abnormal tongue morphology	389827	MYMK	ORPHA:1358
HP:0030809	Abnormal tongue morphology	9382	COG1	OMIM:611209
HP:0030809	Abnormal tongue morphology	84181	CHD6	ORPHA:2108
HP:0030809	Abnormal tongue morphology	1301	COL11A1	ORPHA:440354
HP:0030809	Abnormal tongue morphology	2316	FLNA	ORPHA:90652
HP:0030809	Abnormal tongue morphology	8241	RBM10	ORPHA:2886
HP:0030809	Abnormal tongue morphology	8241	RBM10	OMIM:311900
HP:0030809	Abnormal tongue morphology	101929726	MYMX	ORPHA:1358
HP:0030809	Abnormal tongue morphology	2737	GLI3	ORPHA:672
HP:0030809	Abnormal tongue morphology	2737	GLI3	OMIM:146510
HP:0030809	Abnormal tongue morphology	9791	PTDSS1	OMIM:151050
HP:0030809	Abnormal tongue morphology	5396	PRRX1	ORPHA:990
HP:0030809	Abnormal tongue morphology	5396	PRRX1	OMIM:202650
HP:0030809	Abnormal tongue morphology	5015	OTX2	ORPHA:990
HP:0030809	Abnormal tongue morphology	84823	LMNB2	OMIM:616540
HP:0030809	Abnormal tongue morphology	6608	SMO	OMIM:241800
HP:0030809	Abnormal tongue morphology	5932	RBBP8	OMIM:606744
HP:0030809	Abnormal tongue morphology	6913	TBX15	OMIM:260660
HP:0030809	Abnormal tongue morphology	4591	TRIM37	OMIM:253250
HP:0030809	Abnormal tongue morphology	65250	CPLANE1	OMIM:277170
HP:0030809	Abnormal tongue morphology	65250	CPLANE1	ORPHA:2754
HP:0030809	Abnormal tongue morphology	54903	MKS1	OMIM:249000
HP:0030809	Abnormal tongue morphology	153241	CEP120	OMIM:616300
HP:0030809	Abnormal tongue morphology	26005	C2CD3	ORPHA:434179
HP:0030809	Abnormal tongue morphology	26005	C2CD3	OMIM:615948
HP:0030809	Abnormal tongue morphology	83871	RAB34	OMIM:620718
HP:0030809	Abnormal tongue morphology	83479	DDX59	OMIM:174300
HP:0030809	Abnormal tongue morphology	9851	KIAA0753	OMIM:617127
HP:0030809	Abnormal tongue morphology	9851	KIAA0753	ORPHA:2754
HP:0030809	Abnormal tongue morphology	4208	MEF2C	OMIM:613443
HP:0030809	Abnormal tongue morphology	8481	OFD1	OMIM:311200
HP:0030809	Abnormal tongue morphology	8481	OFD1	ORPHA:2750
HP:0030809	Abnormal tongue morphology	8481	OFD1	ORPHA:2754
HP:0030809	Abnormal tongue morphology	79005	SCNM1	OMIM:620107
HP:0030809	Abnormal tongue morphology	26123	TCTN3	OMIM:614815
HP:0030809	Abnormal tongue morphology	26123	TCTN3	OMIM:258860
HP:0030809	Abnormal tongue morphology	26123	TCTN3	ORPHA:2754
HP:0030809	Abnormal tongue morphology	79583	TMEM231	ORPHA:2754
HP:0030809	Abnormal tongue morphology	10210	TOPORS	ORPHA:2754
HP:0030809	Abnormal tongue morphology	5147	PDE6D	ORPHA:2754
HP:0030809	Abnormal tongue morphology	51259	TMEM216	ORPHA:2754
HP:0030809	Abnormal tongue morphology	317662	FAM149B1	ORPHA:2754
HP:0030809	Abnormal tongue morphology	374654	KIF7	ORPHA:2754
HP:0030809	Abnormal tongue morphology	4750	NEK1	OMIM:252100
HP:0030809	Abnormal tongue morphology	1893	ECM1	ORPHA:530
HP:0030809	Abnormal tongue morphology	5573	PRKAR1A	ORPHA:1359
HP:0030809	Abnormal tongue morphology	50940	PDE11A	ORPHA:1359
HP:0030809	Abnormal tongue morphology	26191	PTPN22	ORPHA:397
HP:0030809	Abnormal tongue morphology	3106	HLA-B	ORPHA:397
HP:0030809	Abnormal tongue morphology	3123	HLA-DRB1	ORPHA:397
HP:0030809	Abnormal tongue morphology	8974	P4HA2	ORPHA:397
HP:0030809	Abnormal tongue morphology	8029	CUBN	ORPHA:35858
HP:0030809	Abnormal tongue morphology	81693	AMN	ORPHA:35858
HP:0030809	Abnormal tongue morphology	55630	SLC39A4	ORPHA:37
HP:0030809	Abnormal tongue morphology	340024	SLC6A19	ORPHA:2116
HP:0030809	Abnormal tongue morphology	340024	SLC6A19	OMIM:234500
HP:0030809	Abnormal tongue morphology	57393	CLTRN	ORPHA:2116
HP:0030809	Abnormal tongue morphology	55788	LMBRD1	OMIM:277380
HP:0030809	Abnormal tongue morphology	55788	LMBRD1	ORPHA:79284
HP:0030809	Abnormal tongue morphology	25974	MMACHC	ORPHA:79282
HP:0030809	Abnormal tongue morphology	113235	SLC46A1	ORPHA:90045
HP:0030809	Abnormal tongue morphology	8242	KDM5C	OMIM:300534
HP:0030809	Abnormal tongue morphology	22930	RAB3GAP1	ORPHA:1387
HP:0030809	Abnormal tongue morphology	25782	RAB3GAP2	ORPHA:1387
HP:0030809	Abnormal tongue morphology	81857	MED25	ORPHA:464738
HP:0030809	Abnormal tongue morphology	81857	MED25	OMIM:616449
HP:0030809	Abnormal tongue morphology	26525	IL36RN	OMIM:614204
HP:0030809	Abnormal tongue morphology	6720	SREBF1	OMIM:158310
HP:0030809	Abnormal tongue morphology	84314	TMEM107	ORPHA:564
HP:0030809	Abnormal tongue morphology	79867	TCTN2	ORPHA:564
HP:0030809	Abnormal tongue morphology	80776	B9D2	ORPHA:564
HP:0030809	Abnormal tongue morphology	79600	TCTN1	ORPHA:564
HP:0030809	Abnormal tongue morphology	57096	RPGRIP1	ORPHA:564
HP:0030809	Abnormal tongue morphology	79848	CSPP1	ORPHA:564
HP:0030809	Abnormal tongue morphology	80184	CEP290	ORPHA:564
HP:0030809	Abnormal tongue morphology	57545	CC2D2A	ORPHA:564
HP:0030809	Abnormal tongue morphology	91147	TMEM67	ORPHA:564
HP:0030809	Abnormal tongue morphology	79770	TXNDC15	ORPHA:564
HP:0030809	Abnormal tongue morphology	27077	B9D1	ORPHA:564
HP:0030809	Abnormal tongue morphology	23322	RPGRIP1L	ORPHA:564
HP:0030809	Abnormal tongue morphology	65062	TMEM237	ORPHA:564
HP:0030809	Abnormal tongue morphology	9427	ECEL1	OMIM:615065
HP:0030809	Abnormal tongue morphology	473	RERE	OMIM:616975
HP:0030809	Abnormal tongue morphology	2706	GJB2	OMIM:148210
HP:0030809	Abnormal tongue morphology	3853	KRT6A	OMIM:615726
HP:0030809	Abnormal tongue morphology	94	ACVRL1	OMIM:600376
HP:0030809	Abnormal tongue morphology	94	ACVRL1	ORPHA:774
HP:0030809	Abnormal tongue morphology	2658	GDF2	ORPHA:774
HP:0030809	Abnormal tongue morphology	4089	SMAD4	ORPHA:774
HP:0030809	Abnormal tongue morphology	2022	ENG	ORPHA:774
HP:0030809	Abnormal tongue morphology	2022	ENG	OMIM:187300
HP:0030809	Abnormal tongue morphology	6660	SOX5	ORPHA:313892
HP:0030809	Abnormal tongue morphology	6197	RPS6KA3	ORPHA:192
HP:0030809	Abnormal tongue morphology	5980	REV3L	ORPHA:570
HP:0030809	Abnormal tongue morphology	23129	PLXND1	ORPHA:570
HP:0030809	Abnormal tongue morphology	157680	VPS13B	ORPHA:193
HP:0030809	Abnormal tongue morphology	50945	TBX22	OMIM:303400
HP:0030809	Abnormal tongue morphology	8367	H4C5	OMIM:619950
HP:0030809	Abnormal tongue morphology	5457	POU4F1	OMIM:619352
HP:0030809	Abnormal tongue morphology	3899	AFF3	OMIM:619297
HP:0030809	Abnormal tongue morphology	6711	SPTBN1	OMIM:619475
HP:0030809	Abnormal tongue morphology	80204	FBXO11	OMIM:618089
HP:0030809	Abnormal tongue morphology	57479	PRR12	OMIM:619539
HP:0030809	Abnormal tongue morphology	23394	ADNP	OMIM:615873
HP:0030809	Abnormal tongue morphology	9894	TELO2	ORPHA:488642
HP:0030809	Abnormal tongue morphology	64359	NXN	ORPHA:1507
HP:0030809	Abnormal tongue morphology	8085	KMT2D	OMIM:620186
HP:0030809	Abnormal tongue morphology	3664	IRF6	ORPHA:888
HP:0030809	Abnormal tongue morphology	57822	GRHL3	ORPHA:888
HP:0030809	Abnormal tongue morphology	4000	LMNA	ORPHA:740
HP:0030809	Abnormal tongue morphology	10269	ZMPSTE24	ORPHA:740
HP:0030809	Abnormal tongue morphology	4312	MMP1	ORPHA:79408
HP:0030809	Abnormal tongue morphology	1294	COL7A1	ORPHA:79408
HP:0030809	Abnormal tongue morphology	1294	COL7A1	ORPHA:89842
HP:0030809	Abnormal tongue morphology	9578	CDC42BPB	OMIM:619841
HP:0030809	Abnormal tongue morphology	613	BCR	ORPHA:261330
HP:0030809	Abnormal tongue morphology	1399	CRKL	ORPHA:261330
HP:0030809	Abnormal tongue morphology	5594	MAPK1	ORPHA:261330
HP:0030809	Abnormal tongue morphology	4281	MID1	ORPHA:2745
HP:0030809	Abnormal tongue morphology	2542	SLC37A4	OMIM:619525
HP:0030809	Abnormal tongue morphology	6874	TAF4	OMIM:620450
HP:0030809	Abnormal tongue morphology	63901	FAM111A	OMIM:602361
HP:0030809	Abnormal tongue morphology	79659	DYNC2H1	OMIM:613091
HP:0030809	Abnormal tongue morphology	79659	DYNC2H1	ORPHA:93271
HP:0030809	Abnormal tongue morphology	341640	FREM2	ORPHA:2052
HP:0030809	Abnormal tongue morphology	80144	FRAS1	ORPHA:2052
HP:0030809	Abnormal tongue morphology	23426	GRIP1	ORPHA:2052
HP:0030809	Abnormal tongue morphology	54101	RIPK4	ORPHA:1401
HP:0030809	Abnormal tongue morphology	1857	DVL3	ORPHA:3107
HP:0030809	Abnormal tongue morphology	1857	DVL3	OMIM:616894
HP:0030809	Abnormal tongue morphology	2535	FZD2	ORPHA:3107
HP:0030809	Abnormal tongue morphology	257	ALX3	ORPHA:391474
HP:0030809	Abnormal tongue morphology	55112	DYNC2I1	ORPHA:93271
HP:0030809	Abnormal tongue morphology	57560	IFT80	ORPHA:93271
HP:0030809	Abnormal tongue morphology	57539	WDR35	ORPHA:93271
HP:0030809	Abnormal tongue morphology	89891	DYNC2I2	ORPHA:93271
HP:0030809	Abnormal tongue morphology	55784	MCTP2	ORPHA:1596
HP:0030809	Abnormal tongue morphology	1717	DHCR7	ORPHA:818
HP:0030809	Abnormal tongue morphology	3977	LIFR	ORPHA:3206
HP:0030809	Abnormal tongue morphology	3977	LIFR	OMIM:601559
HP:0030809	Abnormal tongue morphology	3852	KRT5	ORPHA:79396
HP:0030809	Abnormal tongue morphology	3861	KRT14	ORPHA:79396
HP:0030809	Abnormal tongue morphology	80326	WNT10A	OMIM:257980
HP:0030809	Abnormal tongue morphology	9488	PIGB	OMIM:618580
HP:0030809	Abnormal tongue morphology	91949	COG7	OMIM:608779
HP:0030809	Abnormal tongue morphology	3145	HMBS	OMIM:620704
HP:0030809	Abnormal tongue morphology	29957	SLC25A24	OMIM:612289
HP:0030809	Abnormal tongue morphology	6418	SET	OMIM:618106
HP:0030809	Abnormal tongue morphology	9289	ADGRG1	ORPHA:98889
HP:0030809	Abnormal tongue morphology	5297	PI4KA	ORPHA:98889
HP:0030809	Abnormal tongue morphology	27286	SRPX2	ORPHA:98889
HP:0030809	Abnormal tongue morphology	6872	TAF1	ORPHA:53351
HP:0030809	Abnormal tongue morphology	4758	NEU1	ORPHA:93399
HP:0030809	Abnormal tongue morphology	4758	NEU1	ORPHA:93400
HP:0030809	Abnormal tongue morphology	1457	CSNK2A1	OMIM:617062
HP:0030809	Abnormal tongue morphology	374879	ZNF699	OMIM:619488
HP:0030809	Abnormal tongue morphology	253959	RALGAPA1	OMIM:618797
HP:0030809	Abnormal tongue morphology	28952	CCDC22	OMIM:300963
HP:0030809	Abnormal tongue morphology	1759	DNM1	OMIM:620352
HP:0030809	Abnormal tongue morphology	55343	SLC35C1	ORPHA:99843
HP:0030809	Abnormal tongue morphology	79068	FTO	OMIM:612938
HP:0030809	Abnormal tongue morphology	56975	FAM20C	OMIM:259775
HP:0030809	Abnormal tongue morphology	4948	OCA2	ORPHA:98794
HP:0030809	Abnormal tongue morphology	9321	TRIP11	OMIM:200600
HP:0030809	Abnormal tongue morphology	4001	LMNB1	OMIM:619179
HP:0030809	Abnormal tongue morphology	26047	CNTNAP2	OMIM:610042
HP:0030809	Abnormal tongue morphology	23219	FBXO28	OMIM:619777
HP:0030809	Abnormal tongue morphology	9378	NRXN1	OMIM:614325
HP:0030809	Abnormal tongue morphology	2898	GRIK2	OMIM:619580
HP:0030809	Abnormal tongue morphology	1193	CLIC2	ORPHA:324410
HP:0030809	Abnormal tongue morphology	5745	PTH1R	ORPHA:50945
HP:0030809	Abnormal tongue morphology	23230	VPS13A	ORPHA:2388
HP:0030809	Abnormal tongue morphology	22907	DHX30	OMIM:617804
HP:0030809	Abnormal tongue morphology	1460	CSNK2B	OMIM:618732
HP:0030809	Abnormal tongue morphology	4247	MGAT2	OMIM:212066
HP:0030809	Abnormal tongue morphology	2483	FRG1	OMIM:158900
HP:0030809	Abnormal tongue morphology	80025	PANK2	ORPHA:216873
HP:0030809	Abnormal tongue morphology	8106	PABPN1	ORPHA:270
HP:0030809	Abnormal tongue morphology	339855	KY	OMIM:617114
HP:0030809	Abnormal tongue morphology	339855	KY	ORPHA:496689
HP:0030809	Abnormal tongue morphology	4593	MUSK	OMIM:616325
HP:0030809	Abnormal tongue morphology	10133	OPTN	OMIM:613435
HP:0030809	Abnormal tongue morphology	10133	OPTN	ORPHA:803
HP:0030809	Abnormal tongue morphology	81846	SBF2	ORPHA:99956
HP:0030809	Abnormal tongue morphology	25978	CHMP2B	ORPHA:803
HP:0030809	Abnormal tongue morphology	3178	HNRNPA1	ORPHA:803
HP:0030809	Abnormal tongue morphology	8148	TAF15	ORPHA:803
HP:0030809	Abnormal tongue morphology	5445	PON2	ORPHA:803
HP:0030809	Abnormal tongue morphology	9217	VAPB	ORPHA:803
HP:0030809	Abnormal tongue morphology	8878	SQSTM1	ORPHA:803
HP:0030809	Abnormal tongue morphology	5630	PRPH	ORPHA:803
HP:0030809	Abnormal tongue morphology	29110	TBK1	ORPHA:803
HP:0030809	Abnormal tongue morphology	55830	GLT8D1	ORPHA:803
HP:0030809	Abnormal tongue morphology	755	CFAP410	ORPHA:803
HP:0030809	Abnormal tongue morphology	10891	PPARGC1A	ORPHA:803
HP:0030809	Abnormal tongue morphology	6647	SOD1	ORPHA:803
HP:0030809	Abnormal tongue morphology	1639	DCTN1	ORPHA:803
HP:0030809	Abnormal tongue morphology	5444	PON1	ORPHA:803
HP:0030809	Abnormal tongue morphology	5446	PON3	ORPHA:803
HP:0030809	Abnormal tongue morphology	4744	NEFH	ORPHA:803
HP:0030809	Abnormal tongue morphology	5216	PFN1	ORPHA:803
HP:0030809	Abnormal tongue morphology	9782	MATR3	ORPHA:803
HP:0030809	Abnormal tongue morphology	54209	TREM2	ORPHA:803
HP:0030809	Abnormal tongue morphology	7415	VCP	ORPHA:803
HP:0030809	Abnormal tongue morphology	283	ANG	ORPHA:803
HP:0030809	Abnormal tongue morphology	23435	TARDBP	ORPHA:803
HP:0030809	Abnormal tongue morphology	29978	UBQLN2	ORPHA:803
HP:0030809	Abnormal tongue morphology	2733	GLE1	ORPHA:803
HP:0030809	Abnormal tongue morphology	2521	FUS	ORPHA:803
HP:0030809	Abnormal tongue morphology	6311	ATXN2	ORPHA:803
HP:0030809	Abnormal tongue morphology	1610	DAO	ORPHA:803
HP:0030809	Abnormal tongue morphology	2066	ERBB4	ORPHA:803
HP:0030809	Abnormal tongue morphology	311	ANXA11	ORPHA:803
HP:0030809	Abnormal tongue morphology	23025	UNC13A	ORPHA:803
HP:0030809	Abnormal tongue morphology	899	CCNF	ORPHA:803
HP:0030809	Abnormal tongue morphology	400916	CHCHD10	ORPHA:803
HP:0030809	Abnormal tongue morphology	10558	SPTLC1	OMIM:620285
HP:0030809	Abnormal tongue morphology	79628	SH3TC2	OMIM:601596
HP:0030809	Abnormal tongue morphology	79628	SH3TC2	ORPHA:99949
HP:0030809	Abnormal tongue morphology	2934	GSN	ORPHA:85448
HP:0030809	Abnormal tongue morphology	3508	IGHMBP2	OMIM:616155
HP:0030809	Abnormal tongue morphology	10528	NOP56	OMIM:614153
HP:0030809	Abnormal tongue morphology	10528	NOP56	ORPHA:276198
HP:0030809	Abnormal tongue morphology	22880	MORC2	ORPHA:466768
HP:0030809	Abnormal tongue morphology	51010	EXOSC3	OMIM:614678
HP:0030809	Abnormal tongue morphology	4747	NEFL	ORPHA:101085
HP:0030809	Abnormal tongue morphology	113278	SLC52A3	OMIM:211530
HP:0030809	Abnormal tongue morphology	285489	DOK7	OMIM:254300
HP:0030809	Abnormal tongue morphology	130340	AP1S3	ORPHA:247353
HP:0030809	Abnormal tongue morphology	5317	PKP1	ORPHA:158668
HP:0007928	Abnormal flash visual evoked potentials	49855	SCAPER	OMIM:618195
HP:0007928	Abnormal flash visual evoked potentials	3708	ITPR1	OMIM:206700
HP:0007928	Abnormal flash visual evoked potentials	6310	ATXN1	ORPHA:98755
HP:0007928	Abnormal flash visual evoked potentials	2581	GALC	OMIM:245200
HP:0007928	Abnormal flash visual evoked potentials	55624	POMGNT1	OMIM:253280
HP:0000286	Epicanthus	1718	DHCR24	OMIM:602398
HP:0000286	Epicanthus	1718	DHCR24	ORPHA:35107
HP:0000286	Epicanthus	26235	FBXL4	OMIM:615471
HP:0000286	Epicanthus	1139	CHRNA7	ORPHA:199318
HP:0000286	Epicanthus	23019	CNOT1	OMIM:618500
HP:0000286	Epicanthus	8216	LZTR1	OMIM:616564
HP:0000286	Epicanthus	8216	LZTR1	OMIM:605275
HP:0000286	Epicanthus	23135	KDM6B	OMIM:618505
HP:0000286	Epicanthus	6659	SOX4	OMIM:618506
HP:0000286	Epicanthus	6228	RPS23	OMIM:617412
HP:0000286	Epicanthus	7360	UGP2	OMIM:618744
HP:0000286	Epicanthus	51	ACOX1	ORPHA:2971
HP:0000286	Epicanthus	51	ACOX1	OMIM:264470
HP:0000286	Epicanthus	1836	SLC26A2	ORPHA:56304
HP:0000286	Epicanthus	80816	ASXL3	OMIM:615485
HP:0000286	Epicanthus	1855	DVL1	OMIM:616331
HP:0000286	Epicanthus	1855	DVL1	OMIM:180700
HP:0000286	Epicanthus	1855	DVL1	ORPHA:3107
HP:0000286	Epicanthus	283489	CHAMP1	OMIM:616579
HP:0000286	Epicanthus	24142	NAA80	OMIM:620830
HP:0000286	Epicanthus	10084	PQBP1	ORPHA:93947
HP:0000286	Epicanthus	10084	PQBP1	OMIM:309500
HP:0000286	Epicanthus	79158	GNPTAB	OMIM:252500
HP:0000286	Epicanthus	79158	GNPTAB	ORPHA:576
HP:0000286	Epicanthus	79158	GNPTAB	ORPHA:423461
HP:0000286	Epicanthus	55636	CHD7	ORPHA:138
HP:0000286	Epicanthus	9723	SEMA3E	ORPHA:138
HP:0000286	Epicanthus	29957	SLC25A24	ORPHA:2963
HP:0000286	Epicanthus	6023	RMRP	ORPHA:175
HP:0000286	Epicanthus	57589	RIC1	OMIM:618761
HP:0000286	Epicanthus	54453	RIN2	OMIM:613075
HP:0000286	Epicanthus	7994	KAT6A	ORPHA:457193
HP:0000286	Epicanthus	7994	KAT6A	OMIM:616268
HP:0000286	Epicanthus	81857	MED25	ORPHA:464738
HP:0000286	Epicanthus	81857	MED25	OMIM:616449
HP:0000286	Epicanthus	2697	GJA1	ORPHA:2710
HP:0000286	Epicanthus	2697	GJA1	OMIM:164200
HP:0000286	Epicanthus	2697	GJA1	OMIM:257850
HP:0000286	Epicanthus	9401	RECQL4	OMIM:218600
HP:0000286	Epicanthus	9401	RECQL4	OMIM:268400
HP:0000286	Epicanthus	9401	RECQL4	ORPHA:1225
HP:0000286	Epicanthus	10087	CERT1	OMIM:616351
HP:0000286	Epicanthus	57231	SNX14	OMIM:616354
HP:0000286	Epicanthus	80776	B9D2	OMIM:614175
HP:0000286	Epicanthus	8036	SHOC2	ORPHA:2701
HP:0000286	Epicanthus	8036	SHOC2	OMIM:607721
HP:0000286	Epicanthus	5500	PPP1CB	ORPHA:2701
HP:0000286	Epicanthus	5500	PPP1CB	OMIM:617506
HP:0000286	Epicanthus	5813	PURA	ORPHA:438216
HP:0000286	Epicanthus	3340	NDST1	OMIM:616116
HP:0000286	Epicanthus	11193	WBP4	OMIM:620852
HP:0000286	Epicanthus	89910	UBE3B	ORPHA:2707
HP:0000286	Epicanthus	89910	UBE3B	OMIM:244450
HP:0000286	Epicanthus	26834	RNU4-2	OMIM:620851
HP:0000286	Epicanthus	54345	SOX18	OMIM:137940
HP:0000286	Epicanthus	1186	CLCN7	OMIM:618541
HP:0000286	Epicanthus	26038	CHD5	OMIM:619873
HP:0000286	Epicanthus	23126	POGZ	OMIM:616364
HP:0000286	Epicanthus	8558	CDK10	OMIM:617694
HP:0000286	Epicanthus	3098	HK1	OMIM:618547
HP:0000286	Epicanthus	5979	RET	ORPHA:1848
HP:0000286	Epicanthus	8516	ITGA8	ORPHA:1848
HP:0000286	Epicanthus	26281	FGF20	ORPHA:1848
HP:0000286	Epicanthus	2674	GFRA1	ORPHA:1848
HP:0000286	Epicanthus	7484	WNT9B	ORPHA:1848
HP:0000286	Epicanthus	80000	GREB1L	ORPHA:1848
HP:0000286	Epicanthus	5590	PRKCZ	ORPHA:1606
HP:0000286	Epicanthus	2563	GABRD	ORPHA:1606
HP:0000286	Epicanthus	23013	SPEN	ORPHA:1606
HP:0000286	Epicanthus	23013	SPEN	OMIM:619312
HP:0000286	Epicanthus	8510	MMP23B	ORPHA:1606
HP:0000286	Epicanthus	7798	LUZP1	ORPHA:1606
HP:0000286	Epicanthus	6497	SKI	ORPHA:1606
HP:0000286	Epicanthus	10630	PDPN	ORPHA:1606
HP:0000286	Epicanthus	3339	HSPG2	ORPHA:1606
HP:0000286	Epicanthus	10277	UBE4B	ORPHA:1606
HP:0000286	Epicanthus	8514	KCNAB2	ORPHA:1606
HP:0000286	Epicanthus	473	RERE	ORPHA:1606
HP:0000286	Epicanthus	473	RERE	ORPHA:494344
HP:0000286	Epicanthus	473	RERE	OMIM:616975
HP:0000286	Epicanthus	63976	PRDM16	ORPHA:1606
HP:0000286	Epicanthus	54897	CASZ1	ORPHA:1606
HP:0000286	Epicanthus	2736	GLI2	OMIM:610829
HP:0000286	Epicanthus	5605	MAP2K2	OMIM:615280
HP:0000286	Epicanthus	5605	MAP2K2	ORPHA:1340
HP:0000286	Epicanthus	54828	BCAS3	OMIM:619641
HP:0000286	Epicanthus	56098	PCDHGC4	OMIM:619880
HP:0000286	Epicanthus	7358	UGDH	OMIM:618792
HP:0000286	Epicanthus	113179	ADAT3	OMIM:615286
HP:0000286	Epicanthus	113179	ADAT3	ORPHA:363528
HP:0000286	Epicanthus	79633	FAT4	ORPHA:314679
HP:0000286	Epicanthus	79633	FAT4	ORPHA:2136
HP:0000286	Epicanthus	79633	FAT4	OMIM:616006
HP:0000286	Epicanthus	79633	FAT4	OMIM:615546
HP:0000286	Epicanthus	8642	DCHS1	ORPHA:314679
HP:0000286	Epicanthus	8642	DCHS1	OMIM:601390
HP:0000286	Epicanthus	79728	PALB2	OMIM:610832
HP:0000286	Epicanthus	79728	PALB2	ORPHA:84
HP:0000286	Epicanthus	2324	FLT4	ORPHA:79452
HP:0000286	Epicanthus	9780	PIEZO1	ORPHA:79452
HP:0000286	Epicanthus	9780	PIEZO1	OMIM:616843
HP:0000286	Epicanthus	285	ANGPT2	ORPHA:79452
HP:0000286	Epicanthus	57165	GJC2	ORPHA:79452
HP:0000286	Epicanthus	5727	PTCH1	ORPHA:377
HP:0000286	Epicanthus	5727	PTCH1	ORPHA:77301
HP:0000286	Epicanthus	8643	PTCH2	ORPHA:377
HP:0000286	Epicanthus	51684	SUFU	ORPHA:377
HP:0000286	Epicanthus	2239	GPC4	ORPHA:373
HP:0000286	Epicanthus	2239	GPC4	OMIM:312870
HP:0000286	Epicanthus	2239	GPC4	ORPHA:2662
HP:0000286	Epicanthus	2719	GPC3	ORPHA:373
HP:0000286	Epicanthus	2719	GPC3	OMIM:312870
HP:0000286	Epicanthus	8565	YARS1	OMIM:619418
HP:0000286	Epicanthus	84168	ANTXR1	OMIM:230740
HP:0000286	Epicanthus	23499	MACF1	OMIM:618325
HP:0000286	Epicanthus	374969	SVBP	OMIM:618569
HP:0000286	Epicanthus	51322	WAC	ORPHA:466950
HP:0000286	Epicanthus	6138	RPL15	ORPHA:124
HP:0000286	Epicanthus	6224	RPS20	ORPHA:124
HP:0000286	Epicanthus	6165	RPL35A	ORPHA:124
HP:0000286	Epicanthus	6132	RPL8	ORPHA:124
HP:0000286	Epicanthus	6223	RPS19	ORPHA:124
HP:0000286	Epicanthus	6223	RPS19	OMIM:105650
HP:0000286	Epicanthus	6232	RPS27	ORPHA:124
HP:0000286	Epicanthus	55027	HEATR3	ORPHA:124
HP:0000286	Epicanthus	6160	RPL31	ORPHA:124
HP:0000286	Epicanthus	6201	RPS7	ORPHA:124
HP:0000286	Epicanthus	6155	RPL27	ORPHA:124
HP:0000286	Epicanthus	6234	RPS28	ORPHA:124
HP:0000286	Epicanthus	6234	RPS28	OMIM:606164
HP:0000286	Epicanthus	6135	RPL11	ORPHA:124
HP:0000286	Epicanthus	6229	RPS24	ORPHA:124
HP:0000286	Epicanthus	6125	RPL5	ORPHA:124
HP:0000286	Epicanthus	6204	RPS10	ORPHA:124
HP:0000286	Epicanthus	2623	GATA1	ORPHA:124
HP:0000286	Epicanthus	6133	RPL9	ORPHA:124
HP:0000286	Epicanthus	6231	RPS26	ORPHA:124
HP:0000286	Epicanthus	11224	RPL35	ORPHA:124
HP:0000286	Epicanthus	6218	RPS17	ORPHA:124
HP:0000286	Epicanthus	6154	RPL26	ORPHA:124
HP:0000286	Epicanthus	6210	RPS15A	ORPHA:124
HP:0000286	Epicanthus	90121	TSR2	ORPHA:124
HP:0000286	Epicanthus	6141	RPL18	ORPHA:124
HP:0000286	Epicanthus	6235	RPS29	ORPHA:124
HP:0000286	Epicanthus	51816	ADA2	ORPHA:124
HP:0000286	Epicanthus	257	ALX3	ORPHA:391474
HP:0000286	Epicanthus	257	ALX3	OMIM:136760
HP:0000286	Epicanthus	117581	TWIST2	ORPHA:1807
HP:0000286	Epicanthus	117581	TWIST2	OMIM:227260
HP:0000286	Epicanthus	1387	CREBBP	OMIM:618332
HP:0000286	Epicanthus	1387	CREBBP	OMIM:180849
HP:0000286	Epicanthus	1387	CREBBP	ORPHA:592574
HP:0000286	Epicanthus	2033	EP300	OMIM:618333
HP:0000286	Epicanthus	2033	EP300	OMIM:613684
HP:0000286	Epicanthus	2033	EP300	OMIM:180849
HP:0000286	Epicanthus	1917	EEF1A2	OMIM:616393
HP:0000286	Epicanthus	9742	IFT140	OMIM:266920
HP:0000286	Epicanthus	26173	INTS1	OMIM:618571
HP:0000286	Epicanthus	10801	SEPTIN9	ORPHA:2901
HP:0000286	Epicanthus	10801	SEPTIN9	OMIM:162100
HP:0000286	Epicanthus	1642	DDB1	OMIM:619426
HP:0000286	Epicanthus	5908	RAP1B	OMIM:620654
HP:0000286	Epicanthus	389827	MYMK	OMIM:254940
HP:0000286	Epicanthus	389827	MYMK	ORPHA:1358
HP:0000286	Epicanthus	7291	TWIST1	ORPHA:794
HP:0000286	Epicanthus	2263	FGFR2	ORPHA:794
HP:0000286	Epicanthus	2261	FGFR3	ORPHA:794
HP:0000286	Epicanthus	6134	RPL10	OMIM:300998
HP:0000286	Epicanthus	6134	RPL10	ORPHA:459070
HP:0000286	Epicanthus	54517	PUS7	OMIM:618342
HP:0000286	Epicanthus	8573	CASK	OMIM:300749
HP:0000286	Epicanthus	54973	INTS11	OMIM:620428
HP:0000286	Epicanthus	10785	WDR4	OMIM:618347
HP:0000286	Epicanthus	56623	INPP5E	OMIM:213300
HP:0000286	Epicanthus	253738	EBF3	ORPHA:96148
HP:0000286	Epicanthus	90459	ERI1	OMIM:620662
HP:0000286	Epicanthus	50814	NSDHL	ORPHA:251383
HP:0000286	Epicanthus	50814	NSDHL	OMIM:300831
HP:0000286	Epicanthus	128869	PIGU	OMIM:618590
HP:0000286	Epicanthus	5575	PRKAR1B	OMIM:619680
HP:0000286	Epicanthus	7707	ZNF148	OMIM:617260
HP:0000286	Epicanthus	5515	PPP2CA	OMIM:618354
HP:0000286	Epicanthus	57520	HECW2	OMIM:617268
HP:0000286	Epicanthus	23524	SRRM2	OMIM:620439
HP:0000286	Epicanthus	5980	REV3L	ORPHA:570
HP:0000286	Epicanthus	23129	PLXND1	ORPHA:570
HP:0000286	Epicanthus	3039	HBA1	ORPHA:98791
HP:0000286	Epicanthus	3040	HBA2	ORPHA:98791
HP:0000286	Epicanthus	2334	AFF2	OMIM:309548
HP:0000286	Epicanthus	2334	AFF2	ORPHA:100973
HP:0000286	Epicanthus	4141	MARS1	OMIM:619692
HP:0000286	Epicanthus	7468	NSD2	OMIM:619695
HP:0000286	Epicanthus	7468	NSD2	OMIM:194190
HP:0000286	Epicanthus	7468	NSD2	ORPHA:280
HP:0000286	Epicanthus	1312	COMT	ORPHA:567
HP:0000286	Epicanthus	221037	JMJD1C	ORPHA:567
HP:0000286	Epicanthus	2812	GP1BB	ORPHA:567
HP:0000286	Epicanthus	6239	RREB1	ORPHA:567
HP:0000286	Epicanthus	6899	TBX1	ORPHA:567
HP:0000286	Epicanthus	6899	TBX1	ORPHA:1727
HP:0000286	Epicanthus	7290	HIRA	ORPHA:567
HP:0000286	Epicanthus	9632	SEC24C	ORPHA:567
HP:0000286	Epicanthus	7353	UFD1	ORPHA:567
HP:0000286	Epicanthus	421	ARVCF	ORPHA:567
HP:0000286	Epicanthus	22827	PUF60	ORPHA:508488
HP:0000286	Epicanthus	23111	SPART	ORPHA:101000
HP:0000286	Epicanthus	3188	HNRNPH2	OMIM:300986
HP:0000286	Epicanthus	4613	MYCN	OMIM:164280
HP:0000286	Epicanthus	4613	MYCN	OMIM:620748
HP:0000286	Epicanthus	1974	EIF4A2	OMIM:620455
HP:0000286	Epicanthus	79736	TEFM	OMIM:620451
HP:0000286	Epicanthus	11285	B4GALT7	ORPHA:75496
HP:0000286	Epicanthus	9851	KIAA0753	OMIM:619476
HP:0000286	Epicanthus	9851	KIAA0753	ORPHA:2754
HP:0000286	Epicanthus	2290	FOXG1	ORPHA:261144
HP:0000286	Epicanthus	65250	CPLANE1	OMIM:277170
HP:0000286	Epicanthus	65250	CPLANE1	ORPHA:2754
HP:0000286	Epicanthus	134218	DNAJC21	OMIM:617052
HP:0000286	Epicanthus	63895	PIEZO2	OMIM:108145
HP:0000286	Epicanthus	63895	PIEZO2	OMIM:114300
HP:0000286	Epicanthus	63895	PIEZO2	OMIM:248700
HP:0000286	Epicanthus	11198	SUPT16H	OMIM:619480
HP:0000286	Epicanthus	11198	SUPT16H	ORPHA:261229
HP:0000286	Epicanthus	136647	MPLKIP	OMIM:234050
HP:0000286	Epicanthus	136647	MPLKIP	ORPHA:33364
HP:0000286	Epicanthus	1457	CSNK2A1	OMIM:617062
HP:0000286	Epicanthus	7204	TRIO	OMIM:617061
HP:0000286	Epicanthus	7204	TRIO	ORPHA:476126
HP:0000286	Epicanthus	5290	PIK3CA	OMIM:602501
HP:0000286	Epicanthus	2222	FDFT1	OMIM:618156
HP:0000286	Epicanthus	203068	TUBB	OMIM:156610
HP:0000286	Epicanthus	203068	TUBB	ORPHA:2505
HP:0000286	Epicanthus	8567	MADD	OMIM:619004
HP:0000286	Epicanthus	57477	SHROOM4	ORPHA:85288
HP:0000286	Epicanthus	9326	ZNHIT3	OMIM:260565
HP:0000286	Epicanthus	9326	ZNHIT3	ORPHA:2836
HP:0000286	Epicanthus	1289	COL5A1	OMIM:130000
HP:0000286	Epicanthus	1289	COL5A1	ORPHA:287
HP:0000286	Epicanthus	8450	CUL4B	ORPHA:85293
HP:0000286	Epicanthus	93587	TRMT10A	ORPHA:391408
HP:0000286	Epicanthus	84919	PPP1R15B	ORPHA:391408
HP:0000286	Epicanthus	84919	PPP1R15B	OMIM:616817
HP:0000286	Epicanthus	60	ACTB	OMIM:620475
HP:0000286	Epicanthus	60	ACTB	OMIM:243310
HP:0000286	Epicanthus	60	ACTB	ORPHA:2995
HP:0000286	Epicanthus	673	BRAF	OMIM:613706
HP:0000286	Epicanthus	673	BRAF	OMIM:115150
HP:0000286	Epicanthus	673	BRAF	ORPHA:1340
HP:0000286	Epicanthus	673	BRAF	OMIM:163950
HP:0000286	Epicanthus	3090	HIC1	ORPHA:531
HP:0000286	Epicanthus	5048	PAFAH1B1	ORPHA:531
HP:0000286	Epicanthus	7531	YWHAE	ORPHA:531
HP:0000286	Epicanthus	80267	EDEM3	OMIM:619493
HP:0000286	Epicanthus	1290	COL5A2	OMIM:130010
HP:0000286	Epicanthus	1290	COL5A2	ORPHA:287
HP:0000286	Epicanthus	84231	TRAF7	OMIM:618164
HP:0000286	Epicanthus	89970	RSPRY1	ORPHA:457395
HP:0000286	Epicanthus	89970	RSPRY1	OMIM:616723
HP:0000286	Epicanthus	51594	NBAS	OMIM:614800
HP:0000286	Epicanthus	54187	NANS	OMIM:610442
HP:0000286	Epicanthus	284058	KANSL1	OMIM:610443
HP:0000286	Epicanthus	284058	KANSL1	ORPHA:363958
HP:0000286	Epicanthus	284058	KANSL1	ORPHA:363965
HP:0000286	Epicanthus	10020	GNE	ORPHA:3166
HP:0000286	Epicanthus	10020	GNE	OMIM:269921
HP:0000286	Epicanthus	10079	ATP9A	OMIM:620242
HP:0000286	Epicanthus	7474	WNT5A	OMIM:180700
HP:0000286	Epicanthus	7474	WNT5A	ORPHA:3107
HP:0000286	Epicanthus	114034	TOE1	ORPHA:284339
HP:0000286	Epicanthus	114034	TOE1	OMIM:614969
HP:0000286	Epicanthus	9562	MINPP1	ORPHA:284339
HP:0000286	Epicanthus	51626	DYNC2LI1	OMIM:617088
HP:0000286	Epicanthus	4921	DDR2	OMIM:618175
HP:0000286	Epicanthus	9898	UBAP2L	OMIM:620494
HP:0000286	Epicanthus	8085	KMT2D	OMIM:147920
HP:0000286	Epicanthus	8085	KMT2D	OMIM:620186
HP:0000286	Epicanthus	7403	KDM6A	OMIM:147920
HP:0000286	Epicanthus	7403	KDM6A	OMIM:300867
HP:0000286	Epicanthus	168667	BMPER	OMIM:608022
HP:0000286	Epicanthus	6309	SC5D	ORPHA:46059
HP:0000286	Epicanthus	6309	SC5D	OMIM:607330
HP:0000286	Epicanthus	5393	EXOSC9	OMIM:618065
HP:0000286	Epicanthus	161742	SPRED1	OMIM:611431
HP:0000286	Epicanthus	652	BMP4	ORPHA:828
HP:0000286	Epicanthus	57539	WDR35	OMIM:613610
HP:0000286	Epicanthus	57539	WDR35	ORPHA:93271
HP:0000286	Epicanthus	57539	WDR35	ORPHA:1515
HP:0000286	Epicanthus	57539	WDR35	OMIM:614091
HP:0000286	Epicanthus	7518	XRCC4	ORPHA:99812
HP:0000286	Epicanthus	3981	LIG4	ORPHA:99812
HP:0000286	Epicanthus	3981	LIG4	OMIM:606593
HP:0000286	Epicanthus	3981	LIG4	ORPHA:235
HP:0000286	Epicanthus	4784	NFIX	ORPHA:447980
HP:0000286	Epicanthus	55112	DYNC2I1	ORPHA:93271
HP:0000286	Epicanthus	57560	IFT80	ORPHA:93271
HP:0000286	Epicanthus	79659	DYNC2H1	ORPHA:93271
HP:0000286	Epicanthus	89891	DYNC2I2	ORPHA:93271
HP:0000286	Epicanthus	51506	UFC1	OMIM:618076
HP:0000286	Epicanthus	55788	LMBRD1	OMIM:277380
HP:0000286	Epicanthus	6662	SOX9	OMIM:114290
HP:0000286	Epicanthus	1717	DHCR7	ORPHA:818
HP:0000286	Epicanthus	1717	DHCR7	OMIM:270400
HP:0000286	Epicanthus	10225	CD96	OMIM:211750
HP:0000286	Epicanthus	10225	CD96	ORPHA:1308
HP:0000286	Epicanthus	1301	COL11A1	OMIM:154780
HP:0000286	Epicanthus	84992	PIGY	ORPHA:247262
HP:0000286	Epicanthus	84720	PIGO	ORPHA:247262
HP:0000286	Epicanthus	93210	PGAP3	ORPHA:247262
HP:0000286	Epicanthus	284098	PIGW	ORPHA:247262
HP:0000286	Epicanthus	27315	PGAP2	ORPHA:247262
HP:0000286	Epicanthus	55650	PIGV	ORPHA:247262
HP:0000286	Epicanthus	9487	PIGL	ORPHA:247262
HP:0000286	Epicanthus	9487	PIGL	ORPHA:3474
HP:0000286	Epicanthus	9487	PIGL	OMIM:280000
HP:0000286	Epicanthus	80204	FBXO11	OMIM:618089
HP:0000286	Epicanthus	1801	DPH1	OMIM:616901
HP:0000286	Epicanthus	1801	DPH1	ORPHA:459061
HP:0000286	Epicanthus	93627	TBCK	OMIM:616900
HP:0000286	Epicanthus	93627	TBCK	ORPHA:488632
HP:0000286	Epicanthus	672	BRCA1	ORPHA:84
HP:0000286	Epicanthus	672	BRCA1	OMIM:617883
HP:0000286	Epicanthus	10459	MAD2L2	ORPHA:84
HP:0000286	Epicanthus	7516	XRCC2	ORPHA:84
HP:0000286	Epicanthus	29089	UBE2T	ORPHA:84
HP:0000286	Epicanthus	675	BRCA2	ORPHA:84
HP:0000286	Epicanthus	55120	FANCL	ORPHA:84
HP:0000286	Epicanthus	2177	FANCD2	ORPHA:84
HP:0000286	Epicanthus	2175	FANCA	ORPHA:84
HP:0000286	Epicanthus	2187	FANCB	ORPHA:84
HP:0000286	Epicanthus	2176	FANCC	ORPHA:84
HP:0000286	Epicanthus	2176	FANCC	OMIM:227645
HP:0000286	Epicanthus	2178	FANCE	ORPHA:84
HP:0000286	Epicanthus	2188	FANCF	ORPHA:84
HP:0000286	Epicanthus	2189	FANCG	ORPHA:84
HP:0000286	Epicanthus	5888	RAD51	ORPHA:84
HP:0000286	Epicanthus	5889	RAD51C	ORPHA:84
HP:0000286	Epicanthus	55159	RFWD3	ORPHA:84
HP:0000286	Epicanthus	83990	BRIP1	ORPHA:84
HP:0000286	Epicanthus	57697	FANCM	ORPHA:84
HP:0000286	Epicanthus	84464	SLX4	ORPHA:84
HP:0000286	Epicanthus	2072	ERCC4	ORPHA:84
HP:0000286	Epicanthus	55215	FANCI	ORPHA:84
HP:0000286	Epicanthus	546	ATRX	ORPHA:847
HP:0000286	Epicanthus	546	ATRX	OMIM:309580
HP:0000286	Epicanthus	546	ATRX	OMIM:301040
HP:0000286	Epicanthus	9839	ZEB2	ORPHA:261552
HP:0000286	Epicanthus	64919	BCL11B	OMIM:618092
HP:0000286	Epicanthus	9184	BUB3	ORPHA:1052
HP:0000286	Epicanthus	699	BUB1	ORPHA:1052
HP:0000286	Epicanthus	699	BUB1	OMIM:620183
HP:0000286	Epicanthus	9702	CEP57	ORPHA:1052
HP:0000286	Epicanthus	9702	CEP57	OMIM:614114
HP:0000286	Epicanthus	9319	TRIP13	ORPHA:1052
HP:0000286	Epicanthus	701	BUB1B	ORPHA:1052
HP:0000286	Epicanthus	701	BUB1B	OMIM:257300
HP:0000286	Epicanthus	23036	ZNF292	OMIM:619188
HP:0000286	Epicanthus	6885	MAP3K7	OMIM:157800
HP:0000286	Epicanthus	23545	ATP6V0A2	OMIM:278250
HP:0000286	Epicanthus	23545	ATP6V0A2	ORPHA:2834
HP:0000286	Epicanthus	1954	MEGF8	OMIM:614976
HP:0000286	Epicanthus	1954	MEGF8	ORPHA:65759
HP:0000286	Epicanthus	84300	UQCC2	OMIM:615824
HP:0000286	Epicanthus	3070	HELLS	OMIM:616911
HP:0000286	Epicanthus	3070	HELLS	ORPHA:2268
HP:0000286	Epicanthus	83879	CDCA7	OMIM:616910
HP:0000286	Epicanthus	83879	CDCA7	ORPHA:2268
HP:0000286	Epicanthus	25942	SIN3A	OMIM:613406
HP:0000286	Epicanthus	25942	SIN3A	ORPHA:94065
HP:0000286	Epicanthus	10815	CPLX1	OMIM:194190
HP:0000286	Epicanthus	10815	CPLX1	ORPHA:280
HP:0000286	Epicanthus	1487	CTBP1	OMIM:194190
HP:0000286	Epicanthus	1487	CTBP1	ORPHA:280
HP:0000286	Epicanthus	53834	FGFRL1	OMIM:194190
HP:0000286	Epicanthus	3954	LETM1	OMIM:194190
HP:0000286	Epicanthus	3954	LETM1	ORPHA:280
HP:0000286	Epicanthus	10522	DEAF1	OMIM:615828
HP:0000286	Epicanthus	3192	HNRNPU	ORPHA:238769
HP:0000286	Epicanthus	9653	HS2ST1	OMIM:619194
HP:0000286	Epicanthus	7025	NR2F1	ORPHA:401777
HP:0000286	Epicanthus	7025	NR2F1	OMIM:615722
HP:0000286	Epicanthus	51660	MPC1	OMIM:614741
HP:0000286	Epicanthus	9508	ADAMTS3	ORPHA:2136
HP:0000286	Epicanthus	147372	CCBE1	ORPHA:2136
HP:0000286	Epicanthus	147372	CCBE1	OMIM:235510
HP:0000286	Epicanthus	10908	PNPLA6	ORPHA:2377
HP:0000286	Epicanthus	26053	AUTS2	OMIM:615834
HP:0000286	Epicanthus	26053	AUTS2	ORPHA:352490
HP:0000286	Epicanthus	3211	HOXB1	OMIM:614744
HP:0000286	Epicanthus	54499	TMCO1	OMIM:213980
HP:0000286	Epicanthus	54499	TMCO1	ORPHA:1394
HP:0000286	Epicanthus	23137	SMC5	OMIM:620185
HP:0000286	Epicanthus	2255	FGF10	OMIM:620193
HP:0000286	Epicanthus	283209	PGM2L1	OMIM:620191
HP:0000286	Epicanthus	79228	THOC6	ORPHA:363444
HP:0000286	Epicanthus	57459	GATAD2B	ORPHA:363686
HP:0000286	Epicanthus	8050	PDHX	OMIM:245349
HP:0000286	Epicanthus	8481	OFD1	OMIM:311200
HP:0000286	Epicanthus	8481	OFD1	ORPHA:2750
HP:0000286	Epicanthus	8481	OFD1	ORPHA:2754
HP:0000286	Epicanthus	8481	OFD1	OMIM:300804
HP:0000286	Epicanthus	10472	ZBTB18	OMIM:612337
HP:0000286	Epicanthus	10472	ZBTB18	ORPHA:36367
HP:0000286	Epicanthus	388015	RTL1	ORPHA:96334
HP:0000286	Epicanthus	388015	RTL1	ORPHA:254528
HP:0000286	Epicanthus	8788	DLK1	ORPHA:96334
HP:0000286	Epicanthus	8788	DLK1	ORPHA:254528
HP:0000286	Epicanthus	55384	MEG3	ORPHA:96334
HP:0000286	Epicanthus	55384	MEG3	ORPHA:254528
HP:0000286	Epicanthus	10735	STAG2	ORPHA:521258
HP:0000286	Epicanthus	55275	VPS53	OMIM:615851
HP:0000286	Epicanthus	2146	EZH2	OMIM:277590
HP:0000286	Epicanthus	171023	ASXL1	OMIM:605039
HP:0000286	Epicanthus	55023	PHIP	ORPHA:589905
HP:0000286	Epicanthus	55023	PHIP	OMIM:617991
HP:0000286	Epicanthus	22907	DHX30	OMIM:617804
HP:0000286	Epicanthus	196528	ARID2	OMIM:617808
HP:0000286	Epicanthus	26123	TCTN3	OMIM:258860
HP:0000286	Epicanthus	26123	TCTN3	ORPHA:2754
HP:0000286	Epicanthus	84627	ZNF469	OMIM:229200
HP:0000286	Epicanthus	23394	ADNP	OMIM:615873
HP:0000286	Epicanthus	1788	DNMT3A	OMIM:615879
HP:0000286	Epicanthus	1788	DNMT3A	OMIM:618724
HP:0000286	Epicanthus	10586	MAB21L2	OMIM:615877
HP:0000286	Epicanthus	4893	NRAS	OMIM:613224
HP:0000286	Epicanthus	169792	GLIS3	OMIM:610199
HP:0000286	Epicanthus	10982	MAPRE2	OMIM:616734
HP:0000286	Epicanthus	10982	MAPRE2	ORPHA:2505
HP:0000286	Epicanthus	55033	FKBP14	OMIM:614557
HP:0000286	Epicanthus	4131	MAP1B	OMIM:618918
HP:0000286	Epicanthus	55764	IFT122	OMIM:218330
HP:0000286	Epicanthus	55764	IFT122	ORPHA:1515
HP:0000286	Epicanthus	10943	MSL3	OMIM:301032
HP:0000286	Epicanthus	57511	COG6	OMIM:614576
HP:0000286	Epicanthus	83696	TRAPPC9	ORPHA:352530
HP:0000286	Epicanthus	4854	NOTCH3	ORPHA:2789
HP:0000286	Epicanthus	139285	AMER1	ORPHA:2780
HP:0000286	Epicanthus	139285	AMER1	OMIM:300373
HP:0000286	Epicanthus	2313	FLI1	ORPHA:2308
HP:0000286	Epicanthus	9343	EFTUD2	ORPHA:79113
HP:0000286	Epicanthus	9343	EFTUD2	OMIM:610536
HP:0000286	Epicanthus	9361	LONP1	ORPHA:1458
HP:0000286	Epicanthus	6197	RPS6KA3	ORPHA:192
HP:0000286	Epicanthus	10664	CTCF	ORPHA:363611
HP:0000286	Epicanthus	10664	CTCF	OMIM:615502
HP:0000286	Epicanthus	10367	MICU1	OMIM:615673
HP:0000286	Epicanthus	4329	ALDH6A1	OMIM:614105
HP:0000286	Epicanthus	80781	COL18A1	OMIM:267750
HP:0000286	Epicanthus	80781	COL18A1	ORPHA:1571
HP:0000286	Epicanthus	284252	KCTD1	OMIM:181270
HP:0000286	Epicanthus	23556	PIGN	ORPHA:280633
HP:0000286	Epicanthus	23556	PIGN	OMIM:614080
HP:0000286	Epicanthus	55617	TASP1	OMIM:618950
HP:0000286	Epicanthus	6182	MRPL12	OMIM:618951
HP:0000286	Epicanthus	112752	IFT43	OMIM:617866
HP:0000286	Epicanthus	112752	IFT43	ORPHA:1515
HP:0000286	Epicanthus	3832	KIF11	ORPHA:2526
HP:0000286	Epicanthus	3832	KIF11	OMIM:152950
HP:0000286	Epicanthus	259266	ASPM	OMIM:608716
HP:0000286	Epicanthus	6651	SON	ORPHA:500150
HP:0000286	Epicanthus	6651	SON	OMIM:617140
HP:0000286	Epicanthus	26503	SLC17A5	OMIM:269920
HP:0000286	Epicanthus	1748	DLX4	OMIM:616788
HP:0000286	Epicanthus	4621	MYH3	ORPHA:2990
HP:0000286	Epicanthus	4621	MYH3	OMIM:193700
HP:0000286	Epicanthus	1146	CHRNG	ORPHA:2990
HP:0000286	Epicanthus	1146	CHRNG	OMIM:265000
HP:0000286	Epicanthus	1146	CHRNG	OMIM:253290
HP:0000286	Epicanthus	71	ACTG1	ORPHA:2995
HP:0000286	Epicanthus	5286	PIK3C2A	ORPHA:557003
HP:0000286	Epicanthus	5286	PIK3C2A	OMIM:618440
HP:0000286	Epicanthus	79583	TMEM231	ORPHA:2754
HP:0000286	Epicanthus	10210	TOPORS	ORPHA:2754
HP:0000286	Epicanthus	5147	PDE6D	ORPHA:2754
HP:0000286	Epicanthus	51259	TMEM216	ORPHA:2754
HP:0000286	Epicanthus	317662	FAM149B1	ORPHA:2754
HP:0000286	Epicanthus	374654	KIF7	ORPHA:2754
HP:0000286	Epicanthus	374654	KIF7	OMIM:200990
HP:0000286	Epicanthus	5087	PBX1	OMIM:617641
HP:0000286	Epicanthus	57728	WDR19	OMIM:614378
HP:0000286	Epicanthus	57728	WDR19	ORPHA:1515
HP:0000286	Epicanthus	1297	COL9A1	OMIM:614134
HP:0000286	Epicanthus	2260	FGFR1	OMIM:615465
HP:0000286	Epicanthus	2260	FGFR1	OMIM:190440
HP:0000286	Epicanthus	84148	KAT8	OMIM:618974
HP:0000286	Epicanthus	8449	DHX16	OMIM:618733
HP:0000286	Epicanthus	1278	COL1A2	ORPHA:1899
HP:0000286	Epicanthus	1277	COL1A1	ORPHA:1899
HP:0000286	Epicanthus	1277	COL1A1	ORPHA:287
HP:0000286	Epicanthus	11253	MAN1B1	ORPHA:397941
HP:0000286	Epicanthus	8367	H4C5	OMIM:619950
HP:0000286	Epicanthus	5728	PTEN	OMIM:605309
HP:0000286	Epicanthus	6016	RIT1	OMIM:615355
HP:0000286	Epicanthus	4204	MECP2	ORPHA:1762
HP:0000286	Epicanthus	4204	MECP2	OMIM:300260
HP:0000286	Epicanthus	51126	NAA20	OMIM:619717
HP:0000286	Epicanthus	55627	SMPD4	OMIM:618622
HP:0000286	Epicanthus	84942	WDR73	OMIM:251300
HP:0000286	Epicanthus	5830	PEX5	OMIM:214110
HP:0000286	Epicanthus	5830	PEX5	OMIM:202370
HP:0000286	Epicanthus	5830	PEX5	ORPHA:912
HP:0000286	Epicanthus	79848	CSPP1	ORPHA:397715
HP:0000286	Epicanthus	9786	KIAA0586	ORPHA:397715
HP:0000286	Epicanthus	65267	WNK3	OMIM:309610
HP:0000286	Epicanthus	3020	H3-3A	OMIM:619720
HP:0000286	Epicanthus	51741	WWOX	OMIM:616211
HP:0000286	Epicanthus	51111	KMT5B	OMIM:617788
HP:0000286	Epicanthus	2624	GATA2	OMIM:614038
HP:0000286	Epicanthus	79639	TMEM53	OMIM:619727
HP:0000286	Epicanthus	65082	VPS33A	OMIM:617303
HP:0000286	Epicanthus	65082	VPS33A	ORPHA:505248
HP:0000286	Epicanthus	129563	DIS3L2	ORPHA:2849
HP:0000286	Epicanthus	3764	KCNJ8	ORPHA:1517
HP:0000286	Epicanthus	10060	ABCC9	ORPHA:1517
HP:0000286	Epicanthus	10060	ABCC9	OMIM:239850
HP:0000286	Epicanthus	51098	IFT52	ORPHA:1515
HP:0000286	Epicanthus	5189	PEX1	OMIM:214100
HP:0000286	Epicanthus	5189	PEX1	OMIM:601539
HP:0000286	Epicanthus	5189	PEX1	ORPHA:912
HP:0000286	Epicanthus	9698	PUM1	OMIM:620719
HP:0000286	Epicanthus	25885	POLR1A	OMIM:616462
HP:0000286	Epicanthus	9692	PRORP	OMIM:619737
HP:0000286	Epicanthus	815	CAMK2A	OMIM:617798
HP:0000286	Epicanthus	4853	NOTCH2	OMIM:102500
HP:0000286	Epicanthus	10381	TUBB3	ORPHA:300570
HP:0000286	Epicanthus	64359	NXN	ORPHA:1507
HP:0000286	Epicanthus	4920	ROR2	ORPHA:1507
HP:0000286	Epicanthus	4920	ROR2	OMIM:268310
HP:0000286	Epicanthus	2626	GATA4	ORPHA:251071
HP:0000286	Epicanthus	6872	TAF1	ORPHA:480907
HP:0000286	Epicanthus	1281	COL3A1	ORPHA:286
HP:0000286	Epicanthus	8726	EED	OMIM:617561
HP:0000286	Epicanthus	54872	PIGG	ORPHA:280
HP:0000286	Epicanthus	7469	NELFA	ORPHA:280
HP:0000286	Epicanthus	4763	NF1	ORPHA:363700
HP:0000286	Epicanthus	4763	NF1	OMIM:193520
HP:0000286	Epicanthus	4763	NF1	OMIM:601321
HP:0000286	Epicanthus	22884	WDR37	OMIM:618652
HP:0000286	Epicanthus	1656	DDX6	OMIM:618653
HP:0000286	Epicanthus	1501	CTNND2	ORPHA:281
HP:0000286	Epicanthus	9037	SEMA5A	ORPHA:281
HP:0000286	Epicanthus	5442	POLRMT	OMIM:619743
HP:0000286	Epicanthus	4297	KMT2A	ORPHA:319182
HP:0000286	Epicanthus	4297	KMT2A	OMIM:605130
HP:0000286	Epicanthus	57178	ZMIZ1	OMIM:618659
HP:0000286	Epicanthus	55012	PPP2R3C	OMIM:618419
HP:0000286	Epicanthus	200734	SPRED2	OMIM:619745
HP:0000286	Epicanthus	55623	THUMPD1	OMIM:619989
HP:0000286	Epicanthus	1789	DNMT3B	OMIM:242860
HP:0000286	Epicanthus	1789	DNMT3B	ORPHA:2268
HP:0000286	Epicanthus	54888	NSUN2	ORPHA:235
HP:0000286	Epicanthus	23312	DMXL2	OMIM:618663
HP:0000286	Epicanthus	1182	CLCN3	OMIM:619512
HP:0000286	Epicanthus	23461	ABCA5	OMIM:135400
HP:0000286	Epicanthus	54914	FOCAD	OMIM:619991
HP:0000286	Epicanthus	1660	DHX9	OMIM:620988
HP:0000286	Epicanthus	9841	ZBTB24	OMIM:614069
HP:0000286	Epicanthus	9841	ZBTB24	ORPHA:2268
HP:0000286	Epicanthus	286	ANK1	ORPHA:251066
HP:0000286	Epicanthus	93986	FOXP2	ORPHA:251061
HP:0000286	Epicanthus	85365	ALG2	ORPHA:79326
HP:0000286	Epicanthus	85365	ALG2	OMIM:607906
HP:0000286	Epicanthus	26137	ZBTB20	OMIM:259050
HP:0000286	Epicanthus	7750	ZMYM2	OMIM:619522
HP:0000286	Epicanthus	53335	BCL11A	OMIM:617101
HP:0000286	Epicanthus	59336	PRDM13	OMIM:619761
HP:0000286	Epicanthus	59336	PRDM13	OMIM:619909
HP:0000286	Epicanthus	6942	TCF20	OMIM:618430
HP:0000286	Epicanthus	9158	FIBP	OMIM:617107
HP:0000286	Epicanthus	9158	FIBP	ORPHA:500095
HP:0000286	Epicanthus	57466	SCAF4	OMIM:620511
HP:0000286	Epicanthus	9968	MED12	OMIM:305450
HP:0000286	Epicanthus	9968	MED12	OMIM:300895
HP:0000286	Epicanthus	57492	ARID1B	ORPHA:251056
HP:0000286	Epicanthus	5373	PMM2	ORPHA:79318
HP:0000286	Epicanthus	57724	EPG5	OMIM:242840
HP:0000286	Epicanthus	7030	TFE3	OMIM:301066
HP:0000286	Epicanthus	1107	CHD3	OMIM:618205
HP:0000286	Epicanthus	6261	RYR1	ORPHA:324581
HP:0000286	Epicanthus	7476	WNT7A	OMIM:276820
HP:0000286	Epicanthus	404672	GTF2H5	ORPHA:33364
HP:0000286	Epicanthus	833	CARS1	ORPHA:33364
HP:0000286	Epicanthus	2068	ERCC2	ORPHA:33364
HP:0000286	Epicanthus	7737	RNF113A	ORPHA:33364
HP:0000286	Epicanthus	6897	TARS1	ORPHA:33364
HP:0000286	Epicanthus	16	AARS1	ORPHA:33364
HP:0000286	Epicanthus	2071	ERCC3	ORPHA:33364
HP:0000286	Epicanthus	2961	GTF2E2	ORPHA:33364
HP:0000286	Epicanthus	79087	ALG12	ORPHA:79324
HP:0000286	Epicanthus	79087	ALG12	OMIM:607143
HP:0000286	Epicanthus	3756	KCNH1	OMIM:611816
HP:0000286	Epicanthus	3756	KCNH1	ORPHA:420561
HP:0000286	Epicanthus	9896	FIG4	OMIM:216340
HP:0000286	Epicanthus	10195	ALG3	OMIM:601110
HP:0000286	Epicanthus	3845	KRAS	OMIM:600268
HP:0000286	Epicanthus	3845	KRAS	ORPHA:3339
HP:0000286	Epicanthus	3845	KRAS	ORPHA:1340
HP:0000286	Epicanthus	3845	KRAS	OMIM:609942
HP:0000286	Epicanthus	8295	TRRAP	OMIM:618454
HP:0000286	Epicanthus	8621	CDK13	OMIM:617360
HP:0000286	Epicanthus	51117	COQ4	OMIM:616276
HP:0000286	Epicanthus	164	AP1G1	OMIM:619548
HP:0000286	Epicanthus	27145	FILIP1	OMIM:620775
HP:0000286	Epicanthus	6857	SYT1	OMIM:618218
HP:0000286	Epicanthus	6857	SYT1	ORPHA:522077
HP:0000286	Epicanthus	6654	SOS1	OMIM:610733
HP:0000286	Epicanthus	1802	DPH2	ORPHA:459061
HP:0000286	Epicanthus	6929	TCF3	ORPHA:33110
HP:0000286	Epicanthus	7922	SLC39A7	ORPHA:33110
HP:0000286	Epicanthus	973	CD79A	ORPHA:33110
HP:0000286	Epicanthus	974	CD79B	ORPHA:33110
HP:0000286	Epicanthus	6688	SPI1	ORPHA:33110
HP:0000286	Epicanthus	3543	IGLL1	ORPHA:33110
HP:0000286	Epicanthus	3507	IGHM	ORPHA:33110
HP:0000286	Epicanthus	29760	BLNK	ORPHA:33110
HP:0000286	Epicanthus	5295	PIK3R1	ORPHA:33110
HP:0000286	Epicanthus	56262	LRRC8A	ORPHA:33110
HP:0000286	Epicanthus	56262	LRRC8A	OMIM:613506
HP:0000286	Epicanthus	84706	GPT2	OMIM:616281
HP:0000286	Epicanthus	5898	RALA	OMIM:619311
HP:0000286	Epicanthus	6909	TBX2	OMIM:618223
HP:0000286	Epicanthus	5351	PLOD1	OMIM:225400
HP:0000286	Epicanthus	6477	SIAH1	OMIM:619314
HP:0000286	Epicanthus	57102	FERRY3	OMIM:618221
HP:0000286	Epicanthus	55628	ZNF407	OMIM:619557
HP:0000286	Epicanthus	84320	ACBD6	OMIM:620785
HP:0000286	Epicanthus	26275	HIBCH	ORPHA:88639
HP:0000286	Epicanthus	26275	HIBCH	OMIM:250620
HP:0000286	Epicanthus	650	BMP2	ORPHA:261295
HP:0000286	Epicanthus	1436	CSF1R	OMIM:618476
HP:0000286	Epicanthus	29998	BICRA	OMIM:619325
HP:0000286	Epicanthus	6263	RYR3	OMIM:620310
HP:0000286	Epicanthus	9126	SMC3	OMIM:610759
HP:0000286	Epicanthus	23221	RHOBTB2	OMIM:618004
HP:0000286	Epicanthus	4125	MAN2B1	OMIM:248500
HP:0000286	Epicanthus	54496	PRMT7	OMIM:617157
HP:0000286	Epicanthus	8260	NAA10	OMIM:300855
HP:0000286	Epicanthus	2316	FLNA	ORPHA:88630
HP:0000286	Epicanthus	2316	FLNA	OMIM:300244
HP:0000286	Epicanthus	10082	GPC6	OMIM:258315
HP:0000286	Epicanthus	1108	CHD4	OMIM:617159
HP:0000286	Epicanthus	9719	ADAMTSL2	ORPHA:1901
HP:0000286	Epicanthus	9509	ADAMTS2	ORPHA:1901
HP:0000286	Epicanthus	9509	ADAMTS2	OMIM:225410
HP:0000286	Epicanthus	23389	MED13L	ORPHA:369891
HP:0000286	Epicanthus	3265	HRAS	ORPHA:3071
HP:0000286	Epicanthus	3265	HRAS	OMIM:218040
HP:0000286	Epicanthus	9496	TBX4	ORPHA:261279
HP:0000286	Epicanthus	1822	ATN1	OMIM:618494
HP:0000286	Epicanthus	5573	PRKAR1A	OMIM:101800
HP:0000286	Epicanthus	5573	PRKAR1A	ORPHA:950
HP:0000286	Epicanthus	51715	RAB23	ORPHA:65759
HP:0000286	Epicanthus	51715	RAB23	OMIM:201000
HP:0000286	Epicanthus	64864	RFX7	OMIM:620330
HP:0000286	Epicanthus	57003	CCDC47	OMIM:618268
HP:0000286	Epicanthus	5977	DPF2	OMIM:618027
HP:0000286	Epicanthus	10847	SRCAP	OMIM:619595
HP:0000286	Epicanthus	79005	SCNM1	OMIM:620107
HP:0000286	Epicanthus	526	ATP6V1B2	ORPHA:79500
HP:0000286	Epicanthus	57465	TBC1D24	ORPHA:79500
HP:0000286	Epicanthus	57465	TBC1D24	OMIM:220500
HP:0000286	Epicanthus	2132	EXT2	ORPHA:52022
HP:0000286	Epicanthus	60529	ALX4	ORPHA:52022
HP:0000286	Epicanthus	51317	PHF21A	ORPHA:52022
HP:0000286	Epicanthus	10220	GDF11	OMIM:619122
HP:0000286	Epicanthus	226	ALDOA	OMIM:611881
HP:0000286	Epicanthus	55252	ASXL2	OMIM:617190
HP:0000286	Epicanthus	23154	NCDN	OMIM:619373
HP:0000286	Epicanthus	1984	EIF5A	OMIM:619376
HP:0000286	Epicanthus	3295	HSD17B4	OMIM:261515
HP:0000286	Epicanthus	1795	DOCK3	OMIM:618292
HP:0000286	Epicanthus	11011	TLK2	OMIM:618050
HP:0000286	Epicanthus	129285	PPP1R21	OMIM:619383
HP:0000286	Epicanthus	27161	AGO2	OMIM:619149
HP:0000286	Epicanthus	221927	BRAT1	OMIM:618056
HP:0000286	Epicanthus	57680	CHD8	ORPHA:261229
HP:0000286	Epicanthus	5144	PDE4D	ORPHA:950
HP:0000286	Epicanthus	7337	UBE3A	ORPHA:238446
HP:0000286	Epicanthus	58499	ZNF462	ORPHA:502430
HP:0000286	Epicanthus	58499	ZNF462	OMIM:618619
HP:0000286	Epicanthus	8506	CNTNAP1	OMIM:618186
HP:0000286	Epicanthus	5894	RAF1	OMIM:611554
HP:0000286	Epicanthus	5894	RAF1	OMIM:611553
HP:0000286	Epicanthus	25782	RAB3GAP2	OMIM:212720
HP:0000286	Epicanthus	6595	SMARCA2	OMIM:619293
HP:0000286	Epicanthus	28958	COA3	OMIM:619058
HP:0000286	Epicanthus	9739	SETD1A	OMIM:619056
HP:0000286	Epicanthus	7490	WT1	OMIM:194080
HP:0000286	Epicanthus	8546	AP3B1	OMIM:608233
HP:0000286	Epicanthus	259232	NALCN	ORPHA:562528
HP:0000286	Epicanthus	26523	AGO1	OMIM:620292
HP:0000286	Epicanthus	29128	UHRF1	ORPHA:2268
HP:0000286	Epicanthus	57167	SALL4	ORPHA:959
HP:0000286	Epicanthus	57167	SALL4	OMIM:607323
HP:0000286	Epicanthus	1857	DVL3	ORPHA:3107
HP:0000286	Epicanthus	1857	DVL3	OMIM:616894
HP:0000286	Epicanthus	2535	FZD2	ORPHA:3107
HP:0000286	Epicanthus	6660	SOX5	OMIM:616803
HP:0000286	Epicanthus	5828	PEX2	OMIM:614866
HP:0000286	Epicanthus	5828	PEX2	ORPHA:912
HP:0000286	Epicanthus	6804	STX1A	ORPHA:904
HP:0000286	Epicanthus	7461	CLIP2	ORPHA:904
HP:0000286	Epicanthus	84277	DNAJC30	ORPHA:904
HP:0000286	Epicanthus	8468	FKBP6	ORPHA:904
HP:0000286	Epicanthus	5982	RFC2	ORPHA:904
HP:0000286	Epicanthus	2969	GTF2I	ORPHA:904
HP:0000286	Epicanthus	3984	LIMK1	ORPHA:904
HP:0000286	Epicanthus	9569	GTF2IRD1	ORPHA:904
HP:0000286	Epicanthus	155382	VPS37D	ORPHA:904
HP:0000286	Epicanthus	155368	METTL27	ORPHA:904
HP:0000286	Epicanthus	114049	BUD23	ORPHA:904
HP:0000286	Epicanthus	7458	EIF4H	ORPHA:904
HP:0000286	Epicanthus	84163	GTF2IRD2	ORPHA:904
HP:0000286	Epicanthus	26608	TBL2	ORPHA:904
HP:0000286	Epicanthus	653361	NCF1	ORPHA:904
HP:0000286	Epicanthus	135886	TMEM270	ORPHA:904
HP:0000286	Epicanthus	9031	BAZ1B	ORPHA:904
HP:0000286	Epicanthus	2006	ELN	ORPHA:904
HP:0000286	Epicanthus	2006	ELN	OMIM:194050
HP:0000286	Epicanthus	285175	UNC80	OMIM:616801
HP:0000286	Epicanthus	6329	SCN4A	ORPHA:99735
HP:0000286	Epicanthus	51611	DPH5	OMIM:620070
HP:0000286	Epicanthus	5594	MAPK1	OMIM:619087
HP:0000286	Epicanthus	51085	MLXIPL	OMIM:194050
HP:0000286	Epicanthus	10430	TMEM147	OMIM:620075
HP:0000286	Epicanthus	7355	SLC35A2	OMIM:300896
HP:0000286	Epicanthus	26047	CNTNAP2	OMIM:610042
HP:0000286	Epicanthus	8504	PEX3	OMIM:614882
HP:0000286	Epicanthus	8504	PEX3	ORPHA:912
HP:0000286	Epicanthus	5824	PEX19	OMIM:614886
HP:0000286	Epicanthus	5824	PEX19	ORPHA:912
HP:0000286	Epicanthus	50945	TBX22	ORPHA:921
HP:0000286	Epicanthus	92154	MTSS2	OMIM:620086
HP:0000286	Epicanthus	5631	PRPS1	OMIM:300661
HP:0000286	Epicanthus	5781	PTPN11	OMIM:151100
HP:0000286	Epicanthus	5781	PTPN11	OMIM:163950
HP:0000286	Epicanthus	2703	GJA8	OMIM:612474
HP:0000286	Epicanthus	2702	GJA5	OMIM:612474
HP:0000286	Epicanthus	867	CBL	OMIM:613563
HP:0000286	Epicanthus	2245	FGD1	ORPHA:915
HP:0000286	Epicanthus	1134	CHRNA1	OMIM:253290
HP:0000286	Epicanthus	1144	CHRND	OMIM:253290
HP:0000286	Epicanthus	55670	PEX26	ORPHA:912
HP:0000286	Epicanthus	8799	PEX11B	ORPHA:912
HP:0000286	Epicanthus	9409	PEX16	ORPHA:912
HP:0000286	Epicanthus	5190	PEX6	ORPHA:912
HP:0000286	Epicanthus	5193	PEX12	ORPHA:912
HP:0000286	Epicanthus	5194	PEX13	ORPHA:912
HP:0000286	Epicanthus	5195	PEX14	ORPHA:912
HP:0000286	Epicanthus	5192	PEX10	ORPHA:912
HP:0000286	Epicanthus	3720	JARID2	OMIM:620098
HP:0000286	Epicanthus	4683	NBN	OMIM:251260
HP:0000286	Epicanthus	65062	TMEM237	OMIM:614424
HP:0000286	Epicanthus	85358	SHANK3	OMIM:606232
HP:0000286	Epicanthus	5859	QARS1	OMIM:615760
HP:0000286	Epicanthus	5053	PAH	ORPHA:2209
HP:0000286	Epicanthus	101929726	MYMX	ORPHA:1358
HP:0000286	Epicanthus	5925	RB1	ORPHA:1587
HP:0000286	Epicanthus	23511	NUP188	OMIM:618804
HP:0000286	Epicanthus	5604	MAP2K1	ORPHA:1340
HP:0000286	Epicanthus	5604	MAP2K1	OMIM:163950
HP:0000286	Epicanthus	64131	XYLT1	OMIM:615777
HP:0000286	Epicanthus	54806	AHI1	OMIM:608629
HP:0000286	Epicanthus	84342	COG8	OMIM:611182
HP:0000286	Epicanthus	79796	ALG9	OMIM:263210
HP:0000286	Epicanthus	7421	VDR	OMIM:277440
HP:0000286	Epicanthus	5062	PAK2	ORPHA:1571
HP:0000286	Epicanthus	55644	OSGEP	OMIM:617729
HP:0000286	Epicanthus	6628	SNRPB	OMIM:117650
HP:0000286	Epicanthus	8092	ALX1	ORPHA:306542
HP:0000286	Epicanthus	51002	TPRKB	OMIM:617731
HP:0000286	Epicanthus	4659	PPP1R12A	OMIM:618820
HP:0000286	Epicanthus	8405	SPOP	OMIM:618828
HP:0000286	Epicanthus	4796	TONSL	ORPHA:93357
HP:0000286	Epicanthus	55704	CCDC88A	OMIM:617507
HP:0000286	Epicanthus	6519	SLC3A1	ORPHA:163690
HP:0000286	Epicanthus	9581	PREPL	ORPHA:163690
HP:0000286	Epicanthus	4841	NONO	ORPHA:466791
HP:0000286	Epicanthus	9320	TRIP12	OMIM:617752
HP:0000286	Epicanthus	1663	DDX11	OMIM:613398
HP:0000286	Epicanthus	5455	POU3F3	OMIM:618604
HP:0000286	Epicanthus	2186	BPTF	OMIM:617755
HP:0000286	Epicanthus	2990	GUSB	OMIM:253220
HP:0000286	Epicanthus	738	VPS51	OMIM:618606
HP:0000286	Epicanthus	9757	KMT2B	OMIM:619934
HP:0000286	Epicanthus	7543	ZFX	OMIM:301118
HP:0000286	Epicanthus	6736	SRY	ORPHA:1772
HP:0000286	Epicanthus	668	FOXL2	OMIM:110100
HP:0000286	Epicanthus	668	FOXL2	ORPHA:572333
HP:0000286	Epicanthus	78989	COLEC11	OMIM:265050
HP:0000286	Epicanthus	78989	COLEC11	ORPHA:293843
HP:0000286	Epicanthus	9578	CDC42BPB	OMIM:619841
HP:0000286	Epicanthus	23522	KAT6B	OMIM:603736
HP:0000286	Epicanthus	54903	MKS1	OMIM:249000
HP:0000286	Epicanthus	10584	COLEC10	OMIM:248340
HP:0000286	Epicanthus	10584	COLEC10	ORPHA:293843
HP:0000286	Epicanthus	10736	SIX2	ORPHA:488437
HP:0000286	Epicanthus	5648	MASP1	OMIM:257920
HP:0000286	Epicanthus	5648	MASP1	ORPHA:293843
HP:0000286	Epicanthus	5077	PAX3	OMIM:148820
HP:0000286	Epicanthus	10075	HUWE1	OMIM:309590
HP:0007933	Broad lateral eyebrow	835	CASP2	OMIM:620653
HP:0007933	Broad lateral eyebrow	6651	SON	ORPHA:500150
HP:0007933	Broad lateral eyebrow	4297	KMT2A	OMIM:605130
HP:0007935	Juvenile posterior subcapsular lenticular opacities	4771	NF2	OMIM:101000
HP:0025510	Nevus spilus	4893	NRAS	OMIM:137550
HP:0025510	Nevus spilus	3265	HRAS	OMIM:137550
HP:0025510	Nevus spilus	3265	HRAS	ORPHA:2874
HP:0025510	Nevus spilus	5283	PIGH	OMIM:618010
HP:0025512	Skin-colored papule	488	ATP2A2	ORPHA:79151
HP:0025513	Scleral rupture	5351	PLOD1	ORPHA:1900
HP:0025514	Morning glory anomaly	10059	DNM1L	ORPHA:98673
HP:0025514	Morning glory anomaly	4976	OPA1	ORPHA:98673
HP:0025514	Morning glory anomaly	65062	TMEM237	OMIM:614424
HP:0025514	Morning glory anomaly	5080	PAX6	OMIM:165550
HP:0025514	Morning glory anomaly	5080	PAX6	OMIM:120200
HP:0025514	Morning glory anomaly	3166	HMX1	OMIM:612109
HP:0025514	Morning glory anomaly	5076	PAX2	OMIM:120330
HP:0025515	Delayed thelarche	80152	CENPT	OMIM:618702
HP:0025515	Delayed thelarche	93587	TRMT10A	OMIM:616033
HP:0025516	Coronary-pulmonary artery fistula	51434	ANAPC7	OMIM:619699
HP:0025517	Hypoplastic hippocampus	7846	TUBA1A	ORPHA:171680
HP:0025517	Hypoplastic hippocampus	4522	MTHFD1	OMIM:617780
HP:0025517	Hypoplastic hippocampus	10617	STAMBP	OMIM:614261
HP:0025517	Hypoplastic hippocampus	2009	EML1	OMIM:600348
HP:0025517	Hypoplastic hippocampus	79587	CARS2	ORPHA:477774
HP:0025517	Hypoplastic hippocampus	28962	OSTM1	ORPHA:85179
HP:0025517	Hypoplastic hippocampus	1182	CLCN3	OMIM:619517
HP:0025517	Hypoplastic hippocampus	478	ATP1A3	OMIM:619606
HP:0025517	Hypoplastic hippocampus	738	VPS51	OMIM:618606
HP:0025517	Hypoplastic hippocampus	23230	VPS13A	ORPHA:2388
HP:0025517	Hypoplastic hippocampus	7355	SLC35A2	ORPHA:356961
HP:0025517	Hypoplastic hippocampus	54820	NDE1	ORPHA:2177
HP:0025517	Hypoplastic hippocampus	6323	SCN1A	OMIM:619317
HP:0025517	Hypoplastic hippocampus	6925	TCF4	OMIM:610954
HP:0025517	Hypoplastic hippocampus	5457	POU4F1	ORPHA:314647
HP:0025517	Hypoplastic hippocampus	23261	CAMTA1	ORPHA:314647
HP:0025517	Hypoplastic hippocampus	2902	GRIN1	ORPHA:208447
HP:0030810	Abnormal tongue physiology	5428	POLG	ORPHA:254881
HP:0030810	Abnormal tongue physiology	55149	MTPAP	ORPHA:254343
HP:0030810	Abnormal tongue physiology	10382	TUBB4A	ORPHA:98805
HP:0030810	Abnormal tongue physiology	2548	GAA	ORPHA:308552
HP:0030810	Abnormal tongue physiology	23400	ATP13A2	ORPHA:306674
HP:0030810	Abnormal tongue physiology	57679	ALS2	OMIM:205100
HP:0030810	Abnormal tongue physiology	57679	ALS2	OMIM:606353
HP:0030810	Abnormal tongue physiology	1906	EDN1	ORPHA:137888
HP:0030810	Abnormal tongue physiology	5332	PLCB4	ORPHA:137888
HP:0030810	Abnormal tongue physiology	2773	GNAI3	ORPHA:137888
HP:0030810	Abnormal tongue physiology	81846	SBF2	ORPHA:99956
HP:0030810	Abnormal tongue physiology	80144	FRAS1	OMIM:219000
HP:0030810	Abnormal tongue physiology	353116	RILPL1	ORPHA:98897
HP:0030810	Abnormal tongue physiology	10755	GIPC1	ORPHA:98897
HP:0030810	Abnormal tongue physiology	29967	LRP12	ORPHA:98897
HP:0030810	Abnormal tongue physiology	100996717	NOTCH2NLC	ORPHA:98897
HP:0030810	Abnormal tongue physiology	8518	ELP1	OMIM:223900
HP:0030810	Abnormal tongue physiology	65125	WNK1	OMIM:201300
HP:0030810	Abnormal tongue physiology	54463	RETREG1	OMIM:201300
HP:0030810	Abnormal tongue physiology	6335	SCN9A	OMIM:201300
HP:0030810	Abnormal tongue physiology	547	KIF1A	OMIM:201300
HP:0030810	Abnormal tongue physiology	55630	SLC39A4	OMIM:201100
HP:0030810	Abnormal tongue physiology	9131	AIFM1	ORPHA:238329
HP:0030810	Abnormal tongue physiology	9131	AIFM1	OMIM:300816
HP:0030810	Abnormal tongue physiology	11340	EXOSC8	OMIM:616081
HP:0030810	Abnormal tongue physiology	11340	EXOSC8	ORPHA:2254
HP:0030810	Abnormal tongue physiology	5393	EXOSC9	OMIM:618065
HP:0030810	Abnormal tongue physiology	5393	EXOSC9	ORPHA:2254
HP:0030810	Abnormal tongue physiology	23287	AGTPBP1	ORPHA:2254
HP:0030810	Abnormal tongue physiology	23287	AGTPBP1	OMIM:618276
HP:0030810	Abnormal tongue physiology	51010	EXOSC3	ORPHA:2254
HP:0030810	Abnormal tongue physiology	51010	EXOSC3	OMIM:614678
HP:0030810	Abnormal tongue physiology	7443	VRK1	ORPHA:2254
HP:0030810	Abnormal tongue physiology	7443	VRK1	OMIM:607596
HP:0030810	Abnormal tongue physiology	91137	SLC25A46	ORPHA:2254
HP:0030810	Abnormal tongue physiology	6606	SMN1	OMIM:271150
HP:0030810	Abnormal tongue physiology	6606	SMN1	OMIM:253400
HP:0030810	Abnormal tongue physiology	6606	SMN1	OMIM:253550
HP:0030810	Abnormal tongue physiology	6606	SMN1	OMIM:253300
HP:0030810	Abnormal tongue physiology	8087	FXR1	OMIM:618822
HP:0030810	Abnormal tongue physiology	8087	FXR1	OMIM:618823
HP:0030810	Abnormal tongue physiology	6607	SMN2	OMIM:253400
HP:0030810	Abnormal tongue physiology	79581	SLC52A2	OMIM:614707
HP:0030810	Abnormal tongue physiology	7259	TSPYL1	OMIM:608800
HP:0030810	Abnormal tongue physiology	10528	NOP56	OMIM:614153
HP:0030810	Abnormal tongue physiology	10528	NOP56	ORPHA:276198
HP:0030810	Abnormal tongue physiology	84466	MEGF10	OMIM:614399
HP:0030810	Abnormal tongue physiology	10558	SPTLC1	OMIM:162400
HP:0030810	Abnormal tongue physiology	10558	SPTLC1	OMIM:620285
HP:0030810	Abnormal tongue physiology	427	ASAH1	OMIM:159950
HP:0030810	Abnormal tongue physiology	6904	TBCD	OMIM:617193
HP:0030810	Abnormal tongue physiology	23250	ATP11A	OMIM:619851
HP:0030810	Abnormal tongue physiology	4724	NDUFS4	OMIM:252010
HP:0030810	Abnormal tongue physiology	7317	UBA1	ORPHA:1145
HP:0030810	Abnormal tongue physiology	7317	UBA1	OMIM:301830
HP:0030810	Abnormal tongue physiology	10133	OPTN	OMIM:613435
HP:0030810	Abnormal tongue physiology	10133	OPTN	ORPHA:803
HP:0030810	Abnormal tongue physiology	64856	VWA1	OMIM:619216
HP:0030810	Abnormal tongue physiology	203190	LGI3	OMIM:620007
HP:0030810	Abnormal tongue physiology	55005	RMND1	OMIM:614922
HP:0030810	Abnormal tongue physiology	7415	VCP	ORPHA:329475
HP:0030810	Abnormal tongue physiology	7415	VCP	ORPHA:803
HP:0030810	Abnormal tongue physiology	114034	TOE1	OMIM:614969
HP:0030810	Abnormal tongue physiology	25978	CHMP2B	ORPHA:803
HP:0030810	Abnormal tongue physiology	3178	HNRNPA1	ORPHA:803
HP:0030810	Abnormal tongue physiology	8148	TAF15	ORPHA:803
HP:0030810	Abnormal tongue physiology	5445	PON2	ORPHA:803
HP:0030810	Abnormal tongue physiology	9217	VAPB	ORPHA:803
HP:0030810	Abnormal tongue physiology	8878	SQSTM1	ORPHA:803
HP:0030810	Abnormal tongue physiology	5630	PRPH	ORPHA:803
HP:0030810	Abnormal tongue physiology	29110	TBK1	ORPHA:803
HP:0030810	Abnormal tongue physiology	55830	GLT8D1	ORPHA:803
HP:0030810	Abnormal tongue physiology	755	CFAP410	ORPHA:803
HP:0030810	Abnormal tongue physiology	10891	PPARGC1A	ORPHA:803
HP:0030810	Abnormal tongue physiology	6647	SOD1	ORPHA:803
HP:0030810	Abnormal tongue physiology	1639	DCTN1	ORPHA:803
HP:0030810	Abnormal tongue physiology	9896	FIG4	ORPHA:803
HP:0030810	Abnormal tongue physiology	5444	PON1	ORPHA:803
HP:0030810	Abnormal tongue physiology	5446	PON3	ORPHA:803
HP:0030810	Abnormal tongue physiology	4744	NEFH	ORPHA:803
HP:0030810	Abnormal tongue physiology	5216	PFN1	ORPHA:803
HP:0030810	Abnormal tongue physiology	9782	MATR3	ORPHA:803
HP:0030810	Abnormal tongue physiology	54209	TREM2	ORPHA:803
HP:0030810	Abnormal tongue physiology	283	ANG	ORPHA:803
HP:0030810	Abnormal tongue physiology	23435	TARDBP	ORPHA:803
HP:0030810	Abnormal tongue physiology	29978	UBQLN2	ORPHA:803
HP:0030810	Abnormal tongue physiology	2733	GLE1	ORPHA:803
HP:0030810	Abnormal tongue physiology	2521	FUS	ORPHA:803
HP:0030810	Abnormal tongue physiology	4750	NEK1	ORPHA:803
HP:0030810	Abnormal tongue physiology	6311	ATXN2	ORPHA:803
HP:0030810	Abnormal tongue physiology	1610	DAO	ORPHA:803
HP:0030810	Abnormal tongue physiology	2066	ERBB4	ORPHA:803
HP:0030810	Abnormal tongue physiology	311	ANXA11	ORPHA:803
HP:0030810	Abnormal tongue physiology	23025	UNC13A	ORPHA:803
HP:0030810	Abnormal tongue physiology	899	CCNF	ORPHA:803
HP:0030810	Abnormal tongue physiology	400916	CHCHD10	ORPHA:803
HP:0030810	Abnormal tongue physiology	400916	CHCHD10	ORPHA:276435
HP:0030810	Abnormal tongue physiology	773	CACNA1A	ORPHA:569
HP:0030810	Abnormal tongue physiology	112476	PRRT2	ORPHA:569
HP:0030810	Abnormal tongue physiology	6323	SCN1A	ORPHA:569
HP:0030810	Abnormal tongue physiology	477	ATP1A2	ORPHA:569
HP:0030810	Abnormal tongue physiology	79628	SH3TC2	OMIM:601596
HP:0030810	Abnormal tongue physiology	79628	SH3TC2	ORPHA:99949
HP:0030810	Abnormal tongue physiology	54936	ADPRS	OMIM:618170
HP:0030810	Abnormal tongue physiology	127833	SYT2	OMIM:619461
HP:0030810	Abnormal tongue physiology	51305	KCNK9	ORPHA:166108
HP:0030810	Abnormal tongue physiology	58497	PRUNE1	ORPHA:544469
HP:0030810	Abnormal tongue physiology	89874	SLC25A21	OMIM:618811
HP:0030810	Abnormal tongue physiology	5376	PMP22	OMIM:145900
HP:0030810	Abnormal tongue physiology	4359	MPZ	OMIM:145900
HP:0030810	Abnormal tongue physiology	1959	EGR2	OMIM:145900
HP:0030810	Abnormal tongue physiology	57716	PRX	OMIM:145900
HP:0030810	Abnormal tongue physiology	113278	SLC52A3	OMIM:211530
HP:0030810	Abnormal tongue physiology	8831	SYNGAP1	ORPHA:544254
HP:0030810	Abnormal tongue physiology	4914	NTRK1	ORPHA:642
HP:0030810	Abnormal tongue physiology	9881	TRANK1	ORPHA:33543
HP:0030816	Gingival recession	1075	CTSC	OMIM:170650
HP:0030816	Gingival recession	715	C1R	OMIM:130080
HP:0030816	Gingival recession	1832	DSP	OMIM:615821
HP:0030816	Gingival recession	9896	FIG4	ORPHA:3472
HP:0030816	Gingival recession	55697	VAC14	ORPHA:3472
HP:0030816	Gingival recession	1281	COL3A1	OMIM:618343
HP:0030816	Gingival recession	716	C1S	OMIM:617174
HP:0030814	Orange discolored tonsils	19	ABCA1	ORPHA:31150
HP:0030813	Absent tonsils	100	ADA	ORPHA:277
HP:0030813	Absent tonsils	3561	IL2RG	ORPHA:276
HP:0030813	Absent tonsils	64421	DCLRE1C	OMIM:602450
HP:0030812	Enlarged tonsils	5295	PIK3R1	OMIM:616005
HP:0030812	Enlarged tonsils	3423	IDS	ORPHA:217085
HP:0030812	Enlarged tonsils	3423	IDS	ORPHA:217093
HP:0030812	Enlarged tonsils	208	AKT2	ORPHA:293964
HP:0030812	Enlarged tonsils	3425	IDUA	OMIM:607014
HP:0030812	Enlarged tonsils	3559	IL2RA	OMIM:606367
HP:0030812	Enlarged tonsils	959	CD40LG	OMIM:308230
HP:0030812	Enlarged tonsils	760	CA2	ORPHA:2785
HP:0030811	Tongue pain	4914	NTRK1	ORPHA:642
HP:0007937	Reticular pigmentary degeneration	2202	EFEMP1	ORPHA:75376
HP:0007937	Reticular pigmentary degeneration	2202	EFEMP1	OMIM:126600
HP:0007937	Reticular pigmentary degeneration	3075	CFH	ORPHA:75376
HP:0007937	Reticular pigmentary degeneration	3426	CFI	ORPHA:75376
HP:0007937	Reticular pigmentary degeneration	5456	POU3F4	ORPHA:1435
HP:0000479	Abnormal retinal morphology	85300	ATCAY	OMIM:601238
HP:0000479	Abnormal retinal morphology	85300	ATCAY	ORPHA:94122
HP:0000479	Abnormal retinal morphology	611	OPN1SW	ORPHA:88629
HP:0000479	Abnormal retinal morphology	112802	KRT71	ORPHA:170
HP:0000479	Abnormal retinal morphology	121391	KRT74	ORPHA:170
HP:0000479	Abnormal retinal morphology	200879	LIPH	ORPHA:170
HP:0000479	Abnormal retinal morphology	10161	LPAR6	ORPHA:170
HP:0000479	Abnormal retinal morphology	147183	KRT25	ORPHA:170
HP:0000479	Abnormal retinal morphology	7084	TK2	ORPHA:254886
HP:0000479	Abnormal retinal morphology	5428	POLG	ORPHA:254886
HP:0000479	Abnormal retinal morphology	79955	PDZD7	OMIM:618003
HP:0000479	Abnormal retinal morphology	5649	RELN	ORPHA:89844
HP:0000479	Abnormal retinal morphology	10300	KATNB1	ORPHA:89844
HP:0000479	Abnormal retinal morphology	54820	NDE1	ORPHA:89844
HP:0000479	Abnormal retinal morphology	65250	CPLANE1	OMIM:614615
HP:0000479	Abnormal retinal morphology	2067	ERCC1	OMIM:610758
HP:0000479	Abnormal retinal morphology	760	CA2	ORPHA:2785
HP:0000479	Abnormal retinal morphology	1497	CTNS	OMIM:219750
HP:0000479	Abnormal retinal morphology	22827	PUF60	ORPHA:508498
HP:0000479	Abnormal retinal morphology	22827	PUF60	ORPHA:508488
HP:0000479	Abnormal retinal morphology	4123	MAN2C1	OMIM:619775
HP:0000479	Abnormal retinal morphology	9158	FIBP	ORPHA:500095
HP:0000479	Abnormal retinal morphology	9158	FIBP	OMIM:617107
HP:0000479	Abnormal retinal morphology	145173	B3GLCT	OMIM:261540
HP:0000479	Abnormal retinal morphology	26005	C2CD3	ORPHA:434179
HP:0000479	Abnormal retinal morphology	26005	C2CD3	OMIM:615948
HP:0000479	Abnormal retinal morphology	9786	KIAA0586	OMIM:616546
HP:0000479	Abnormal retinal morphology	220	ALDH1A3	OMIM:615113
HP:0000479	Abnormal retinal morphology	9487	PIGL	OMIM:280000
HP:0000479	Abnormal retinal morphology	9487	PIGL	ORPHA:3474
HP:0000479	Abnormal retinal morphology	8573	CASK	OMIM:300749
HP:0000479	Abnormal retinal morphology	80184	CEP290	OMIM:610188
HP:0000479	Abnormal retinal morphology	2248	FGF3	ORPHA:2791
HP:0000479	Abnormal retinal morphology	3166	HMX1	OMIM:612109
HP:0000479	Abnormal retinal morphology	57167	SALL4	OMIM:607323
HP:0000479	Abnormal retinal morphology	22930	RAB3GAP1	ORPHA:2510
HP:0000479	Abnormal retinal morphology	25782	RAB3GAP2	ORPHA:2510
HP:0000479	Abnormal retinal morphology	22931	RAB18	ORPHA:2510
HP:0000479	Abnormal retinal morphology	128637	TBC1D20	ORPHA:2510
HP:0000479	Abnormal retinal morphology	5076	PAX2	OMIM:120330
HP:0000479	Abnormal retinal morphology	5076	PAX2	ORPHA:1475
HP:0000479	Abnormal retinal morphology	9839	ZEB2	ORPHA:261537
HP:0000479	Abnormal retinal morphology	9839	ZEB2	ORPHA:261552
HP:0000479	Abnormal retinal morphology	7020	TFAP2A	OMIM:113620
HP:0000479	Abnormal retinal morphology	26173	INTS1	OMIM:618571
HP:0000479	Abnormal retinal morphology	54806	AHI1	ORPHA:220493
HP:0000479	Abnormal retinal morphology	56623	INPP5E	ORPHA:220493
HP:0000479	Abnormal retinal morphology	153241	CEP120	ORPHA:220493
HP:0000479	Abnormal retinal morphology	54903	MKS1	ORPHA:220493
HP:0000479	Abnormal retinal morphology	95681	CEP41	ORPHA:220493
HP:0000479	Abnormal retinal morphology	55636	CHD7	OMIM:214800
HP:0000479	Abnormal retinal morphology	5908	RAP1B	OMIM:620654
HP:0000479	Abnormal retinal morphology	7855	FZD5	OMIM:620731
HP:0000479	Abnormal retinal morphology	6297	SALL2	OMIM:216820
HP:0000479	Abnormal retinal morphology	8085	KMT2D	OMIM:147920
HP:0000479	Abnormal retinal morphology	7403	KDM6A	OMIM:147920
HP:0000479	Abnormal retinal morphology	3767	KCNJ11	ORPHA:552
HP:0000479	Abnormal retinal morphology	3767	KCNJ11	ORPHA:99885
HP:0000479	Abnormal retinal morphology	8462	KLF11	ORPHA:552
HP:0000479	Abnormal retinal morphology	2645	GCK	ORPHA:552
HP:0000479	Abnormal retinal morphology	2645	GCK	ORPHA:99885
HP:0000479	Abnormal retinal morphology	26060	APPL1	ORPHA:552
HP:0000479	Abnormal retinal morphology	640	BLK	ORPHA:552
HP:0000479	Abnormal retinal morphology	640	BLK	ORPHA:536
HP:0000479	Abnormal retinal morphology	1056	CEL	ORPHA:552
HP:0000479	Abnormal retinal morphology	4760	NEUROD1	ORPHA:552
HP:0000479	Abnormal retinal morphology	3651	PDX1	ORPHA:552
HP:0000479	Abnormal retinal morphology	3651	PDX1	ORPHA:99885
HP:0000479	Abnormal retinal morphology	6833	ABCC8	ORPHA:552
HP:0000479	Abnormal retinal morphology	6833	ABCC8	ORPHA:99885
HP:0000479	Abnormal retinal morphology	5078	PAX4	ORPHA:552
HP:0000479	Abnormal retinal morphology	3172	HNF4A	ORPHA:552
HP:0000479	Abnormal retinal morphology	6927	HNF1A	ORPHA:552
HP:0000479	Abnormal retinal morphology	3630	INS	ORPHA:552
HP:0000479	Abnormal retinal morphology	3630	INS	ORPHA:99885
HP:0000479	Abnormal retinal morphology	3043	HBB	ORPHA:232
HP:0000479	Abnormal retinal morphology	3043	HBB	ORPHA:251380
HP:0000479	Abnormal retinal morphology	3043	HBB	OMIM:603903
HP:0000479	Abnormal retinal morphology	4547	MTTP	OMIM:200100
HP:0000479	Abnormal retinal morphology	189	AGXT	OMIM:259900
HP:0000479	Abnormal retinal morphology	1355	COX15	OMIM:615119
HP:0000479	Abnormal retinal morphology	79848	CSPP1	OMIM:615636
HP:0000479	Abnormal retinal morphology	1493	CTLA4	ORPHA:900
HP:0000479	Abnormal retinal morphology	1493	CTLA4	ORPHA:536
HP:0000479	Abnormal retinal morphology	26191	PTPN22	ORPHA:900
HP:0000479	Abnormal retinal morphology	26191	PTPN22	ORPHA:536
HP:0000479	Abnormal retinal morphology	3115	HLA-DPB1	ORPHA:900
HP:0000479	Abnormal retinal morphology	5657	PRTN3	ORPHA:900
HP:0000479	Abnormal retinal morphology	3113	HLA-DPA1	ORPHA:900
HP:0000479	Abnormal retinal morphology	3425	IDUA	ORPHA:93473
HP:0000479	Abnormal retinal morphology	5627	PROS1	ORPHA:743
HP:0000479	Abnormal retinal morphology	53335	BCL11A	ORPHA:251380
HP:0000479	Abnormal retinal morphology	10661	KLF1	ORPHA:251380
HP:0000479	Abnormal retinal morphology	3047	HBG1	ORPHA:251380
HP:0000479	Abnormal retinal morphology	3048	HBG2	ORPHA:251380
HP:0000479	Abnormal retinal morphology	10733	PLK4	OMIM:616171
HP:0000479	Abnormal retinal morphology	1387	CREBBP	ORPHA:353281
HP:0000479	Abnormal retinal morphology	25828	TXN2	ORPHA:478029
HP:0000479	Abnormal retinal morphology	25828	TXN2	OMIM:616811
HP:0000479	Abnormal retinal morphology	3832	KIF11	ORPHA:2526
HP:0000479	Abnormal retinal morphology	2068	ERCC2	ORPHA:220295
HP:0000479	Abnormal retinal morphology	2073	ERCC5	ORPHA:220295
HP:0000479	Abnormal retinal morphology	2072	ERCC4	ORPHA:220295
HP:0000479	Abnormal retinal morphology	2071	ERCC3	ORPHA:220295
HP:0000479	Abnormal retinal morphology	224	ALDH3A2	ORPHA:816
HP:0000479	Abnormal retinal morphology	8314	BAP1	ORPHA:618
HP:0000479	Abnormal retinal morphology	4286	MITF	ORPHA:618
HP:0000479	Abnormal retinal morphology	1019	CDK4	ORPHA:618
HP:0000479	Abnormal retinal morphology	4255	MGMT	ORPHA:618
HP:0000479	Abnormal retinal morphology	54386	TERF2IP	ORPHA:618
HP:0000479	Abnormal retinal morphology	4157	MC1R	ORPHA:618
HP:0000479	Abnormal retinal morphology	65057	ACD	ORPHA:618
HP:0000479	Abnormal retinal morphology	1029	CDKN2A	ORPHA:618
HP:0000479	Abnormal retinal morphology	7015	TERT	ORPHA:618
HP:0000479	Abnormal retinal morphology	25913	POT1	ORPHA:618
HP:0000479	Abnormal retinal morphology	1030	CDKN2B	ORPHA:618
HP:0000479	Abnormal retinal morphology	256471	MFSD8	OMIM:610951
HP:0000479	Abnormal retinal morphology	51128	SAR1B	ORPHA:71
HP:0000479	Abnormal retinal morphology	4758	NEU1	ORPHA:812
HP:0000479	Abnormal retinal morphology	57192	MCOLN1	ORPHA:578
HP:0000479	Abnormal retinal morphology	6774	STAT3	ORPHA:99885
HP:0000479	Abnormal retinal morphology	2215	FCGR3B	ORPHA:536
HP:0000479	Abnormal retinal morphology	6775	STAT4	ORPHA:536
HP:0000479	Abnormal retinal morphology	6775	STAT4	ORPHA:117
HP:0000479	Abnormal retinal morphology	3684	ITGAM	ORPHA:536
HP:0000479	Abnormal retinal morphology	3586	IL10	ORPHA:536
HP:0000479	Abnormal retinal morphology	3586	IL10	ORPHA:117
HP:0000479	Abnormal retinal morphology	221895	JAZF1	ORPHA:536
HP:0000479	Abnormal retinal morphology	11277	TREX1	ORPHA:536
HP:0000479	Abnormal retinal morphology	7292	TNFSF4	ORPHA:536
HP:0000479	Abnormal retinal morphology	720	C4A	ORPHA:536
HP:0000479	Abnormal retinal morphology	720	C4A	ORPHA:117
HP:0000479	Abnormal retinal morphology	55024	BANK1	ORPHA:536
HP:0000479	Abnormal retinal morphology	3500	IGHG1	ORPHA:536
HP:0000479	Abnormal retinal morphology	3654	IRAK1	ORPHA:536
HP:0000479	Abnormal retinal morphology	1380	CR2	ORPHA:536
HP:0000479	Abnormal retinal morphology	5133	PDCD1	ORPHA:536
HP:0000479	Abnormal retinal morphology	2113	ETS1	ORPHA:536
HP:0000479	Abnormal retinal morphology	2213	FCGR2B	ORPHA:536
HP:0000479	Abnormal retinal morphology	10318	TNIP1	ORPHA:536
HP:0000479	Abnormal retinal morphology	7332	UBE2L3	ORPHA:536
HP:0000479	Abnormal retinal morphology	79932	KIAA0319L	ORPHA:536
HP:0000479	Abnormal retinal morphology	4204	MECP2	ORPHA:536
HP:0000479	Abnormal retinal morphology	3663	IRF5	ORPHA:536
HP:0000479	Abnormal retinal morphology	3123	HLA-DRB1	ORPHA:536
HP:0000479	Abnormal retinal morphology	721	C4B	ORPHA:536
HP:0000479	Abnormal retinal morphology	1773	DNASE1	ORPHA:536
HP:0000479	Abnormal retinal morphology	51284	TLR7	ORPHA:536
HP:0000479	Abnormal retinal morphology	6696	SPP1	ORPHA:536
HP:0000479	Abnormal retinal morphology	54899	PXK	ORPHA:536
HP:0000479	Abnormal retinal morphology	7128	TNFAIP3	ORPHA:536
HP:0000479	Abnormal retinal morphology	3423	IDS	ORPHA:217093
HP:0000479	Abnormal retinal morphology	3423	IDS	ORPHA:217085
HP:0000479	Abnormal retinal morphology	5264	PHYH	ORPHA:773
HP:0000479	Abnormal retinal morphology	5191	PEX7	ORPHA:773
HP:0000479	Abnormal retinal morphology	8813	DPM1	OMIM:608799
HP:0000479	Abnormal retinal morphology	8813	DPM1	ORPHA:79322
HP:0000479	Abnormal retinal morphology	348	APOE	ORPHA:158029
HP:0000479	Abnormal retinal morphology	80025	PANK2	ORPHA:216873
HP:0000479	Abnormal retinal morphology	2260	FGFR1	ORPHA:2396
HP:0000479	Abnormal retinal morphology	3845	KRAS	ORPHA:2396
HP:0000479	Abnormal retinal morphology	3643	INSR	ORPHA:769
HP:0000479	Abnormal retinal morphology	3593	IL12B	ORPHA:3287
HP:0000479	Abnormal retinal morphology	3106	HLA-B	ORPHA:3287
HP:0000479	Abnormal retinal morphology	3106	HLA-B	ORPHA:117
HP:0000479	Abnormal retinal morphology	6945	MLX	ORPHA:3287
HP:0000479	Abnormal retinal morphology	64127	NOD2	ORPHA:90340
HP:0000479	Abnormal retinal morphology	79053	ALG8	ORPHA:79325
HP:0000479	Abnormal retinal morphology	4508	MT-ATP6	OMIM:551500
HP:0000479	Abnormal retinal morphology	9203	ZMYM3	OMIM:301111
HP:0000479	Abnormal retinal morphology	5727	PTCH1	ORPHA:77301
HP:0000479	Abnormal retinal morphology	4982	TNFRSF11B	OMIM:239000
HP:0000479	Abnormal retinal morphology	641	BLM	ORPHA:125
HP:0000479	Abnormal retinal morphology	3030	HADHA	ORPHA:5
HP:0000479	Abnormal retinal morphology	10815	CPLX1	ORPHA:280
HP:0000479	Abnormal retinal morphology	54872	PIGG	ORPHA:280
HP:0000479	Abnormal retinal morphology	7469	NELFA	ORPHA:280
HP:0000479	Abnormal retinal morphology	1487	CTBP1	ORPHA:280
HP:0000479	Abnormal retinal morphology	3954	LETM1	ORPHA:280
HP:0000479	Abnormal retinal morphology	7468	NSD2	ORPHA:280
HP:0000479	Abnormal retinal morphology	10533	ATG7	OMIM:619422
HP:0000479	Abnormal retinal morphology	27077	B9D1	OMIM:617120
HP:0000479	Abnormal retinal morphology	375056	MIA3	OMIM:619269
HP:0000479	Abnormal retinal morphology	84314	TMEM107	OMIM:617563
HP:0000479	Abnormal retinal morphology	84314	TMEM107	OMIM:617562
HP:0000479	Abnormal retinal morphology	9907	AP5Z1	ORPHA:306511
HP:0000479	Abnormal retinal morphology	9907	AP5Z1	OMIM:613647
HP:0000479	Abnormal retinal morphology	1301	COL11A1	ORPHA:90654
HP:0000479	Abnormal retinal morphology	79583	TMEM231	OMIM:614970
HP:0000479	Abnormal retinal morphology	203068	TUBB	ORPHA:2505
HP:0000479	Abnormal retinal morphology	10982	MAPRE2	ORPHA:2505
HP:0000479	Abnormal retinal morphology	22954	TRIM32	OMIM:615988
HP:0000479	Abnormal retinal morphology	58497	PRUNE1	ORPHA:544469
HP:0000479	Abnormal retinal morphology	5167	ENPP1	ORPHA:758
HP:0000479	Abnormal retinal morphology	368	ABCC6	ORPHA:758
HP:0000479	Abnormal retinal morphology	79158	GNPTAB	OMIM:252600
HP:0000479	Abnormal retinal morphology	4644	MYO5A	ORPHA:79476
HP:0000479	Abnormal retinal morphology	114902	C1QTNF5	OMIM:605670
HP:0000479	Abnormal retinal morphology	149233	IL23R	ORPHA:117
HP:0000479	Abnormal retinal morphology	4210	MEFV	ORPHA:117
HP:0000479	Abnormal retinal morphology	1230	CCR1	ORPHA:117
HP:0000479	Abnormal retinal morphology	355	FAS	ORPHA:117
HP:0000479	Abnormal retinal morphology	3592	IL12A	ORPHA:117
HP:0000479	Abnormal retinal morphology	101928376	IL12A-AS1	ORPHA:117
HP:0000479	Abnormal retinal morphology	7099	TLR4	ORPHA:117
HP:0000479	Abnormal retinal morphology	3459	IFNGR1	ORPHA:117
HP:0000479	Abnormal retinal morphology	337867	UBAC2	ORPHA:117
HP:0000479	Abnormal retinal morphology	51752	ERAP1	ORPHA:117
HP:0000479	Abnormal retinal morphology	8302	KLRC4	ORPHA:117
HP:0000479	Abnormal retinal morphology	1001	CDH3	ORPHA:1897
HP:0000479	Abnormal retinal morphology	65217	PCDH15	OMIM:601067
HP:0000479	Abnormal retinal morphology	65217	PCDH15	OMIM:602083
HP:0000479	Abnormal retinal morphology	64072	CDH23	OMIM:601067
HP:0000479	Abnormal retinal morphology	64072	CDH23	OMIM:601386
HP:0000479	Abnormal retinal morphology	91452	ACBD5	OMIM:618863
HP:0000479	Abnormal retinal morphology	4598	MVK	OMIM:260920
HP:0000479	Abnormal retinal morphology	23126	POGZ	ORPHA:468678
HP:0000479	Abnormal retinal morphology	23126	POGZ	OMIM:616364
HP:0000479	Abnormal retinal morphology	4535	MT-ND1	ORPHA:255210
HP:0000479	Abnormal retinal morphology	4536	MT-ND2	ORPHA:255210
HP:0000479	Abnormal retinal morphology	4537	MT-ND3	ORPHA:255210
HP:0000479	Abnormal retinal morphology	4538	MT-ND4	ORPHA:255210
HP:0000479	Abnormal retinal morphology	4567	MT-TL1	ORPHA:255210
HP:0000479	Abnormal retinal morphology	4578	MT-TW	ORPHA:255210
HP:0000479	Abnormal retinal morphology	4577	MT-TV	ORPHA:255210
HP:0000479	Abnormal retinal morphology	4540	MT-ND5	ORPHA:255210
HP:0000479	Abnormal retinal morphology	4541	MT-ND6	ORPHA:255210
HP:0000479	Abnormal retinal morphology	4566	MT-TK	ORPHA:255210
HP:0000479	Abnormal retinal morphology	6311	ATXN2	OMIM:183090
HP:0000479	Abnormal retinal morphology	4646	MYO6	OMIM:607821
HP:0000479	Abnormal retinal morphology	4509	MT-ATP8	ORPHA:254913
HP:0000479	Abnormal retinal morphology	514	ATP5F1E	ORPHA:254913
HP:0000479	Abnormal retinal morphology	513	ATP5F1D	ORPHA:254913
HP:0000479	Abnormal retinal morphology	498	ATP5F1A	ORPHA:254913
HP:0000479	Abnormal retinal morphology	84833	ATP5MK	ORPHA:254913
HP:0000479	Abnormal retinal morphology	91647	ATPAF2	ORPHA:254913
HP:0000479	Abnormal retinal morphology	26090	ABHD12	OMIM:612674
HP:0000479	Abnormal retinal morphology	10352	WARS2	ORPHA:572798
HP:0000479	Abnormal retinal morphology	10352	WARS2	OMIM:617710
HP:0000479	Abnormal retinal morphology	55012	PPP2R3C	OMIM:618419
HP:0000479	Abnormal retinal morphology	5373	PMM2	OMIM:212065
HP:0000479	Abnormal retinal morphology	5373	PMM2	ORPHA:79318
HP:0000479	Abnormal retinal morphology	491	ATP2B2	OMIM:601386
HP:0000479	Abnormal retinal morphology	1798	DPAGT1	ORPHA:86309
HP:0000479	Abnormal retinal morphology	3098	HK1	OMIM:618547
HP:0000479	Abnormal retinal morphology	4191	MDH2	OMIM:617339
HP:0000479	Abnormal retinal morphology	6134	RPL10	ORPHA:459070
HP:0000479	Abnormal retinal morphology	6134	RPL10	OMIM:300998
HP:0000479	Abnormal retinal morphology	10518	CIB2	OMIM:614869
HP:0000479	Abnormal retinal morphology	124590	USH1G	OMIM:606943
HP:0000479	Abnormal retinal morphology	402	ARL2	OMIM:619082
HP:0000479	Abnormal retinal morphology	7355	SLC35A2	OMIM:300896
HP:0000479	Abnormal retinal morphology	9319	TRIP13	OMIM:617598
HP:0000479	Abnormal retinal morphology	50484	RRM2B	OMIM:268315
HP:0000479	Abnormal retinal morphology	7867	MAPKAPK3	OMIM:617111
HP:0000479	Abnormal retinal morphology	2625	GATA3	ORPHA:2237
HP:0000479	Abnormal retinal morphology	25981	DNAH1	ORPHA:244
HP:0000479	Abnormal retinal morphology	115948	ODAD3	ORPHA:244
HP:0000479	Abnormal retinal morphology	54768	HYDIN	ORPHA:244
HP:0000479	Abnormal retinal morphology	352909	DNAAF3	ORPHA:244
HP:0000479	Abnormal retinal morphology	27148	STK36	ORPHA:244
HP:0000479	Abnormal retinal morphology	51314	NME8	ORPHA:244
HP:0000479	Abnormal retinal morphology	92749	DRC1	ORPHA:244
HP:0000479	Abnormal retinal morphology	54970	TTC12	ORPHA:244
HP:0000479	Abnormal retinal morphology	152110	NEK10	ORPHA:244
HP:0000479	Abnormal retinal morphology	2302	FOXJ1	ORPHA:244
HP:0000479	Abnormal retinal morphology	221421	RSPH9	ORPHA:244
HP:0000479	Abnormal retinal morphology	85478	CCDC65	ORPHA:244
HP:0000479	Abnormal retinal morphology	55036	CCDC40	ORPHA:244
HP:0000479	Abnormal retinal morphology	51364	ZMYND10	ORPHA:244
HP:0000479	Abnormal retinal morphology	64446	DNAI2	ORPHA:244
HP:0000479	Abnormal retinal morphology	8382	NME5	ORPHA:244
HP:0000479	Abnormal retinal morphology	6674	SPAG1	ORPHA:244
HP:0000479	Abnormal retinal morphology	83544	DNAL1	ORPHA:244
HP:0000479	Abnormal retinal morphology	89765	RSPH1	ORPHA:244
HP:0000479	Abnormal retinal morphology	83538	ODAD4	ORPHA:244
HP:0000479	Abnormal retinal morphology	200373	CFAP221	ORPHA:244
HP:0000479	Abnormal retinal morphology	374407	DNAJB13	ORPHA:244
HP:0000479	Abnormal retinal morphology	55172	DNAAF2	ORPHA:244
HP:0000479	Abnormal retinal morphology	161582	DNAAF4	ORPHA:244
HP:0000479	Abnormal retinal morphology	2622	GAS8	ORPHA:244
HP:0000479	Abnormal retinal morphology	23639	DNAAF11	ORPHA:244
HP:0000479	Abnormal retinal morphology	27019	DNAI1	ORPHA:244
HP:0000479	Abnormal retinal morphology	345895	RSPH4A	ORPHA:244
HP:0000479	Abnormal retinal morphology	54919	DNAAF5	ORPHA:244
HP:0000479	Abnormal retinal morphology	85452	CFAP74	ORPHA:244
HP:0000479	Abnormal retinal morphology	93233	ODAD1	ORPHA:244
HP:0000479	Abnormal retinal morphology	55130	ODAD2	ORPHA:244
HP:0000479	Abnormal retinal morphology	1767	DNAH5	ORPHA:244
HP:0000479	Abnormal retinal morphology	83861	RSPH3	ORPHA:244
HP:0000479	Abnormal retinal morphology	345643	MCIDAS	ORPHA:244
HP:0000479	Abnormal retinal morphology	56683	CFAP298	ORPHA:244
HP:0000479	Abnormal retinal morphology	79925	SPEF2	ORPHA:244
HP:0000479	Abnormal retinal morphology	10309	CCNO	ORPHA:244
HP:0000479	Abnormal retinal morphology	115399	LRRC56	ORPHA:244
HP:0000479	Abnormal retinal morphology	139212	DNAAF6	ORPHA:244
HP:0000479	Abnormal retinal morphology	123872	DNAAF1	ORPHA:244
HP:0000479	Abnormal retinal morphology	85016	CFAP300	ORPHA:244
HP:0000479	Abnormal retinal morphology	339829	CCDC39	ORPHA:244
HP:0000479	Abnormal retinal morphology	8701	DNAH11	ORPHA:244
HP:0000479	Abnormal retinal morphology	1770	DNAH9	ORPHA:244
HP:0000479	Abnormal retinal morphology	246176	GAS2L2	ORPHA:244
HP:0000479	Abnormal retinal morphology	3329	HSPD1	ORPHA:100994
HP:0000479	Abnormal retinal morphology	3798	KIF5A	ORPHA:100991
HP:0000479	Abnormal retinal morphology	25861	WHRN	OMIM:611383
HP:0000479	Abnormal retinal morphology	23600	AMACR	OMIM:614307
HP:0000479	Abnormal retinal morphology	443	ASPA	ORPHA:314918
HP:0000479	Abnormal retinal morphology	4694	NDUFA1	OMIM:301020
HP:0000479	Abnormal retinal morphology	27235	COQ2	OMIM:607426
HP:0000479	Abnormal retinal morphology	28982	FLVCR1	ORPHA:88628
HP:0000479	Abnormal retinal morphology	28982	FLVCR1	OMIM:609033
HP:0000479	Abnormal retinal morphology	4704	NDUFA9	OMIM:618247
HP:0000479	Abnormal retinal morphology	2232	FDXR	OMIM:617717
HP:0000479	Abnormal retinal morphology	4647	MYO7A	OMIM:276900
HP:0000479	Abnormal retinal morphology	10083	USH1C	OMIM:276900
HP:0000479	Abnormal retinal morphology	10083	USH1C	OMIM:276904
HP:0000479	Abnormal retinal morphology	84059	ADGRV1	OMIM:605472
HP:0000479	Abnormal retinal morphology	9894	TELO2	ORPHA:488642
HP:0000479	Abnormal retinal morphology	617	BCS1L	OMIM:124000
HP:0000479	Abnormal retinal morphology	51	ACOX1	OMIM:264470
HP:0000479	Abnormal retinal morphology	253827	MSRB3	OMIM:613718
HP:0000479	Abnormal retinal morphology	79644	SRD5A3	ORPHA:324737
HP:0000479	Abnormal retinal morphology	23404	EXOSC2	OMIM:617763
HP:0000479	Abnormal retinal morphology	8517	IKBKG	ORPHA:464
HP:0000479	Abnormal retinal morphology	3105	HLA-A	ORPHA:179
HP:0000479	Abnormal retinal morphology	26123	TCTN3	ORPHA:564
HP:0000479	Abnormal retinal morphology	79867	TCTN2	ORPHA:564
HP:0000479	Abnormal retinal morphology	80776	B9D2	ORPHA:564
HP:0000479	Abnormal retinal morphology	79600	TCTN1	ORPHA:564
HP:0000479	Abnormal retinal morphology	57096	RPGRIP1	ORPHA:564
HP:0000479	Abnormal retinal morphology	51259	TMEM216	ORPHA:564
HP:0000479	Abnormal retinal morphology	57545	CC2D2A	ORPHA:564
HP:0000479	Abnormal retinal morphology	91147	TMEM67	ORPHA:564
HP:0000479	Abnormal retinal morphology	79770	TXNDC15	ORPHA:564
HP:0000479	Abnormal retinal morphology	23322	RPGRIP1L	ORPHA:564
HP:0000479	Abnormal retinal morphology	65062	TMEM237	ORPHA:564
HP:0000479	Abnormal retinal morphology	55670	PEX26	ORPHA:912
HP:0000479	Abnormal retinal morphology	5824	PEX19	ORPHA:912
HP:0000479	Abnormal retinal morphology	5828	PEX2	ORPHA:912
HP:0000479	Abnormal retinal morphology	8504	PEX3	ORPHA:912
HP:0000479	Abnormal retinal morphology	8799	PEX11B	ORPHA:912
HP:0000479	Abnormal retinal morphology	9409	PEX16	ORPHA:912
HP:0000479	Abnormal retinal morphology	5190	PEX6	ORPHA:912
HP:0000479	Abnormal retinal morphology	5830	PEX5	ORPHA:912
HP:0000479	Abnormal retinal morphology	5189	PEX1	ORPHA:912
HP:0000479	Abnormal retinal morphology	5193	PEX12	ORPHA:912
HP:0000479	Abnormal retinal morphology	5194	PEX13	ORPHA:912
HP:0000479	Abnormal retinal morphology	5195	PEX14	ORPHA:912
HP:0000479	Abnormal retinal morphology	5192	PEX10	ORPHA:912
HP:0000479	Abnormal retinal morphology	4693	NDP	ORPHA:649
HP:0000479	Abnormal retinal morphology	5456	POU3F4	ORPHA:1435
HP:0000479	Abnormal retinal morphology	100147744	RNU7-1	OMIM:619487
HP:0000479	Abnormal retinal morphology	1462	VCAN	OMIM:143200
HP:0000479	Abnormal retinal morphology	64132	XYLT2	OMIM:605822
HP:0000479	Abnormal retinal morphology	64132	XYLT2	ORPHA:85194
HP:0000479	Abnormal retinal morphology	8322	FZD4	OMIM:133780
HP:0000479	Abnormal retinal morphology	4041	LRP5	OMIM:133780
HP:0000479	Abnormal retinal morphology	4041	LRP5	ORPHA:2788
HP:0000479	Abnormal retinal morphology	875	CBS	ORPHA:394
HP:0000479	Abnormal retinal morphology	875	CBS	OMIM:236200
HP:0000479	Abnormal retinal morphology	778	CACNA1F	OMIM:300476
HP:0000479	Abnormal retinal morphology	6399	TRAPPC2	ORPHA:93284
HP:0000479	Abnormal retinal morphology	6247	RS1	ORPHA:792
HP:0000479	Abnormal retinal morphology	6247	RS1	OMIM:312700
HP:0000479	Abnormal retinal morphology	286053	NSMCE2	OMIM:617253
HP:0000479	Abnormal retinal morphology	286053	NSMCE2	ORPHA:436182
HP:0000479	Abnormal retinal morphology	5351	PLOD1	OMIM:225400
HP:0000479	Abnormal retinal morphology	5351	PLOD1	ORPHA:1900
HP:0000479	Abnormal retinal morphology	1859	DYRK1A	ORPHA:268261
HP:0000479	Abnormal retinal morphology	1859	DYRK1A	ORPHA:464311
HP:0000479	Abnormal retinal morphology	652	BMP4	ORPHA:828
HP:0000479	Abnormal retinal morphology	4897	NRCAM	OMIM:619833
HP:0000479	Abnormal retinal morphology	22947	DUX4L1	ORPHA:269
HP:0000479	Abnormal retinal morphology	1789	DNMT3B	ORPHA:269
HP:0000479	Abnormal retinal morphology	2483	FRG1	ORPHA:269
HP:0000479	Abnormal retinal morphology	23347	SMCHD1	ORPHA:269
HP:0000479	Abnormal retinal morphology	100288687	DUX4	ORPHA:269
HP:0000479	Abnormal retinal morphology	2200	FBN1	OMIM:129600
HP:0000479	Abnormal retinal morphology	2200	FBN1	OMIM:154700
HP:0000479	Abnormal retinal morphology	2200	FBN1	ORPHA:2833
HP:0000479	Abnormal retinal morphology	9227	LRAT	ORPHA:364055
HP:0000479	Abnormal retinal morphology	55812	SPATA7	ORPHA:364055
HP:0000479	Abnormal retinal morphology	6121	RPE65	ORPHA:364055
HP:0000479	Abnormal retinal morphology	167691	LCA5	ORPHA:364055
HP:0000479	Abnormal retinal morphology	64412	GZF1	OMIM:617662
HP:0000479	Abnormal retinal morphology	10413	YAP1	ORPHA:1473
HP:0000479	Abnormal retinal morphology	5728	PTEN	ORPHA:2969
HP:0000479	Abnormal retinal morphology	2314	FLII	ORPHA:819
HP:0000479	Abnormal retinal morphology	23096	IQSEC2	ORPHA:819
HP:0000479	Abnormal retinal morphology	10743	RAI1	ORPHA:819
HP:0000479	Abnormal retinal morphology	10743	RAI1	OMIM:182290
HP:0000479	Abnormal retinal morphology	10522	DEAF1	ORPHA:819
HP:0000479	Abnormal retinal morphology	29072	SETD2	OMIM:620157
HP:0000479	Abnormal retinal morphology	29072	SETD2	OMIM:620155
HP:0000479	Abnormal retinal morphology	29954	POMT2	OMIM:236670
HP:0000479	Abnormal retinal morphology	29954	POMT2	ORPHA:899
HP:0000479	Abnormal retinal morphology	29954	POMT2	ORPHA:370959
HP:0000479	Abnormal retinal morphology	79147	FKRP	OMIM:236670
HP:0000479	Abnormal retinal morphology	79147	FKRP	ORPHA:899
HP:0000479	Abnormal retinal morphology	79147	FKRP	ORPHA:370959
HP:0000479	Abnormal retinal morphology	79147	FKRP	OMIM:613153
HP:0000479	Abnormal retinal morphology	2218	FKTN	OMIM:236670
HP:0000479	Abnormal retinal morphology	2218	FKTN	ORPHA:899
HP:0000479	Abnormal retinal morphology	2218	FKTN	OMIM:253800
HP:0000479	Abnormal retinal morphology	10585	POMT1	OMIM:236670
HP:0000479	Abnormal retinal morphology	10585	POMT1	ORPHA:899
HP:0000479	Abnormal retinal morphology	10585	POMT1	ORPHA:370959
HP:0000479	Abnormal retinal morphology	9215	LARGE1	OMIM:236670
HP:0000479	Abnormal retinal morphology	9215	LARGE1	ORPHA:899
HP:0000479	Abnormal retinal morphology	84892	POMGNT2	ORPHA:899
HP:0000479	Abnormal retinal morphology	148789	B3GALNT2	ORPHA:899
HP:0000479	Abnormal retinal morphology	148789	B3GALNT2	OMIM:615181
HP:0000479	Abnormal retinal morphology	1282	COL4A1	ORPHA:899
HP:0000479	Abnormal retinal morphology	729920	CRPPA	ORPHA:899
HP:0000479	Abnormal retinal morphology	729920	CRPPA	OMIM:614643
HP:0000479	Abnormal retinal morphology	10329	RXYLT1	ORPHA:899
HP:0000479	Abnormal retinal morphology	1605	DAG1	ORPHA:899
HP:0000479	Abnormal retinal morphology	11041	B4GAT1	ORPHA:899
HP:0000479	Abnormal retinal morphology	84197	POMK	ORPHA:899
HP:0000479	Abnormal retinal morphology	84197	POMK	ORPHA:370959
HP:0000479	Abnormal retinal morphology	55624	POMGNT1	ORPHA:899
HP:0000479	Abnormal retinal morphology	55624	POMGNT1	ORPHA:370959
HP:0000479	Abnormal retinal morphology	5080	PAX6	ORPHA:35737
HP:0000479	Abnormal retinal morphology	5080	PAX6	OMIM:120430
HP:0000479	Abnormal retinal morphology	7439	BEST1	OMIM:613194
HP:0000479	Abnormal retinal morphology	7439	BEST1	OMIM:193220
HP:0000479	Abnormal retinal morphology	1298	COL9A2	OMIM:614284
HP:0000479	Abnormal retinal morphology	1298	COL9A2	ORPHA:250984
HP:0000479	Abnormal retinal morphology	7275	TUB	OMIM:616188
HP:0000479	Abnormal retinal morphology	113189	CHST14	ORPHA:2953
HP:0000479	Abnormal retinal morphology	113189	CHST14	OMIM:601776
HP:0000479	Abnormal retinal morphology	29940	DSE	ORPHA:2953
HP:0000479	Abnormal retinal morphology	79797	ZNF408	OMIM:616468
HP:0000479	Abnormal retinal morphology	54880	BCOR	ORPHA:2712
HP:0000479	Abnormal retinal morphology	54880	BCOR	OMIM:300166
HP:0000479	Abnormal retinal morphology	2301	FOXE3	ORPHA:83461
HP:0000479	Abnormal retinal morphology	91851	CHRDL1	OMIM:309300
HP:0000479	Abnormal retinal morphology	1280	COL2A1	ORPHA:94068
HP:0000479	Abnormal retinal morphology	1280	COL2A1	OMIM:156550
HP:0000479	Abnormal retinal morphology	1280	COL2A1	ORPHA:90653
HP:0000479	Abnormal retinal morphology	1280	COL2A1	OMIM:183900
HP:0000479	Abnormal retinal morphology	1280	COL2A1	ORPHA:1856
HP:0000479	Abnormal retinal morphology	1280	COL2A1	OMIM:108300
HP:0000479	Abnormal retinal morphology	1280	COL2A1	ORPHA:93296
HP:0000479	Abnormal retinal morphology	1280	COL2A1	ORPHA:485
HP:0000479	Abnormal retinal morphology	3913	LAMB2	OMIM:609049
HP:0000479	Abnormal retinal morphology	3913	LAMB2	OMIM:614199
HP:0000479	Abnormal retinal morphology	79087	ALG12	OMIM:607143
HP:0000479	Abnormal retinal morphology	79087	ALG12	ORPHA:79324
HP:0000479	Abnormal retinal morphology	55214	P3H2	OMIM:614292
HP:0000479	Abnormal retinal morphology	55714	TENM3	OMIM:615145
HP:0000479	Abnormal retinal morphology	92949	ADAMTSL1	ORPHA:521445
HP:0000479	Abnormal retinal morphology	80781	COL18A1	ORPHA:1571
HP:0000479	Abnormal retinal morphology	80781	COL18A1	OMIM:267750
HP:0000479	Abnormal retinal morphology	5062	PAK2	ORPHA:1571
HP:0000479	Abnormal retinal morphology	5062	PAK2	OMIM:618458
HP:0000479	Abnormal retinal morphology	4036	LRP2	ORPHA:2143
HP:0000479	Abnormal retinal morphology	4036	LRP2	OMIM:222448
HP:0000479	Abnormal retinal morphology	1499	CTNNB1	OMIM:617572
HP:0000479	Abnormal retinal morphology	54507	ADAMTSL4	OMIM:225200
HP:0000479	Abnormal retinal morphology	10526	IPO8	OMIM:619472
HP:0000479	Abnormal retinal morphology	4810	NHS	ORPHA:627
HP:0000479	Abnormal retinal morphology	57105	CYSLTR2	ORPHA:39044
HP:0000479	Abnormal retinal morphology	2776	GNAQ	ORPHA:39044
HP:0000479	Abnormal retinal morphology	2776	GNAQ	ORPHA:3205
HP:0000479	Abnormal retinal morphology	2767	GNA11	ORPHA:39044
HP:0000479	Abnormal retinal morphology	2767	GNA11	ORPHA:1556
HP:0000479	Abnormal retinal morphology	23451	SF3B1	ORPHA:39044
HP:0000479	Abnormal retinal morphology	29925	GMPPB	ORPHA:370959
HP:0000479	Abnormal retinal morphology	726	CAPN5	OMIM:193235
HP:0000479	Abnormal retinal morphology	7518	XRCC4	ORPHA:436182
HP:0000479	Abnormal retinal morphology	11107	PRDM5	ORPHA:90354
HP:0000479	Abnormal retinal morphology	84627	ZNF469	ORPHA:90354
HP:0000479	Abnormal retinal morphology	151188	ARL6IP6	ORPHA:1556
HP:0000479	Abnormal retinal morphology	7428	VHL	ORPHA:892
HP:0000479	Abnormal retinal morphology	595	CCND1	ORPHA:892
HP:0000479	Abnormal retinal morphology	3769	KCNJ13	OMIM:193230
HP:0000479	Abnormal retinal morphology	8974	P4HA2	OMIM:617238
HP:0000479	Abnormal retinal morphology	4094	MAF	OMIM:610202
HP:0000479	Abnormal retinal morphology	4990	SIX6	OMIM:212550
HP:0000479	Abnormal retinal morphology	1302	COL11A2	ORPHA:1427
HP:0000479	Abnormal retinal morphology	84695	LOXL3	OMIM:619781
HP:0000479	Abnormal retinal morphology	7543	ZFX	OMIM:301118
HP:0000479	Abnormal retinal morphology	85378	TUBGCP6	OMIM:251270
HP:0000479	Abnormal retinal morphology	1297	COL9A1	ORPHA:250984
HP:0000479	Abnormal retinal morphology	1299	COL9A3	ORPHA:250984
HP:0000479	Abnormal retinal morphology	80036	TRPM3	OMIM:620253
HP:0000479	Abnormal retinal morphology	90952	ESAM	OMIM:620371
HP:0000479	Abnormal retinal morphology	10594	PRPF8	OMIM:600059
HP:0000479	Abnormal retinal morphology	10594	PRPF8	ORPHA:791
HP:0000479	Abnormal retinal morphology	92840	REEP6	ORPHA:791
HP:0000479	Abnormal retinal morphology	6094	ROM1	ORPHA:791
HP:0000479	Abnormal retinal morphology	6017	RLBP1	ORPHA:791
HP:0000479	Abnormal retinal morphology	6017	RLBP1	ORPHA:85128
HP:0000479	Abnormal retinal morphology	7401	CLRN1	ORPHA:791
HP:0000479	Abnormal retinal morphology	24	ABCA4	ORPHA:791
HP:0000479	Abnormal retinal morphology	130557	ZNF513	ORPHA:791
HP:0000479	Abnormal retinal morphology	582	BBS1	ORPHA:791
HP:0000479	Abnormal retinal morphology	582	BBS1	OMIM:209900
HP:0000479	Abnormal retinal morphology	92211	CDHR1	ORPHA:791
HP:0000479	Abnormal retinal morphology	23568	ARL2BP	ORPHA:791
HP:0000479	Abnormal retinal morphology	6101	RP1	ORPHA:791
HP:0000479	Abnormal retinal morphology	3419	IDH3A	ORPHA:791
HP:0000479	Abnormal retinal morphology	4751	NEK2	ORPHA:791
HP:0000479	Abnormal retinal morphology	346007	EYS	ORPHA:791
HP:0000479	Abnormal retinal morphology	8100	IFT88	ORPHA:791
HP:0000479	Abnormal retinal morphology	23020	SNRNP200	ORPHA:791
HP:0000479	Abnormal retinal morphology	762	CA4	ORPHA:791
HP:0000479	Abnormal retinal morphology	138050	HGSNAT	ORPHA:791
HP:0000479	Abnormal retinal morphology	196	AHR	ORPHA:791
HP:0000479	Abnormal retinal morphology	3614	IMPDH1	ORPHA:791
HP:0000479	Abnormal retinal morphology	123016	TTC8	ORPHA:791
HP:0000479	Abnormal retinal morphology	6103	RPGR	ORPHA:791
HP:0000479	Abnormal retinal morphology	1406	CRX	ORPHA:791
HP:0000479	Abnormal retinal morphology	5148	PDE6G	ORPHA:791
HP:0000479	Abnormal retinal morphology	26160	IFT172	ORPHA:791
HP:0000479	Abnormal retinal morphology	26160	IFT172	OMIM:615630
HP:0000479	Abnormal retinal morphology	26121	PRPF31	ORPHA:791
HP:0000479	Abnormal retinal morphology	583	BBS2	ORPHA:791
HP:0000479	Abnormal retinal morphology	583	BBS2	OMIM:615981
HP:0000479	Abnormal retinal morphology	4117	MAK	ORPHA:791
HP:0000479	Abnormal retinal morphology	25794	FSCN2	ORPHA:791
HP:0000479	Abnormal retinal morphology	375298	CERKL	ORPHA:791
HP:0000479	Abnormal retinal morphology	3420	IDH3B	ORPHA:791
HP:0000479	Abnormal retinal morphology	57670	KIAA1549	ORPHA:791
HP:0000479	Abnormal retinal morphology	24148	PRPF6	ORPHA:791
HP:0000479	Abnormal retinal morphology	23418	CRB1	ORPHA:791
HP:0000479	Abnormal retinal morphology	10461	MERTK	ORPHA:791
HP:0000479	Abnormal retinal morphology	57709	SLC7A14	ORPHA:791
HP:0000479	Abnormal retinal morphology	768206	PRCD	ORPHA:791
HP:0000479	Abnormal retinal morphology	7399	USH2A	ORPHA:791
HP:0000479	Abnormal retinal morphology	23370	ARHGEF18	ORPHA:791
HP:0000479	Abnormal retinal morphology	5949	RBP3	ORPHA:791
HP:0000479	Abnormal retinal morphology	6010	RHO	ORPHA:791
HP:0000479	Abnormal retinal morphology	6100	RP9	ORPHA:791
HP:0000479	Abnormal retinal morphology	10002	NR2E3	ORPHA:791
HP:0000479	Abnormal retinal morphology	84140	FAM161A	ORPHA:791
HP:0000479	Abnormal retinal morphology	403	ARL3	ORPHA:791
HP:0000479	Abnormal retinal morphology	5145	PDE6A	ORPHA:791
HP:0000479	Abnormal retinal morphology	10210	TOPORS	ORPHA:791
HP:0000479	Abnormal retinal morphology	8842	PROM1	ORPHA:791
HP:0000479	Abnormal retinal morphology	9128	PRPF4	ORPHA:791
HP:0000479	Abnormal retinal morphology	9128	PRPF4	OMIM:615922
HP:0000479	Abnormal retinal morphology	145226	RDH12	ORPHA:791
HP:0000479	Abnormal retinal morphology	50939	IMPG2	ORPHA:791
HP:0000479	Abnormal retinal morphology	8481	OFD1	ORPHA:791
HP:0000479	Abnormal retinal morphology	49855	SCAPER	ORPHA:791
HP:0000479	Abnormal retinal morphology	9742	IFT140	ORPHA:791
HP:0000479	Abnormal retinal morphology	2979	GUCA1B	ORPHA:791
HP:0000479	Abnormal retinal morphology	1259	CNGA1	ORPHA:791
HP:0000479	Abnormal retinal morphology	1258	CNGB1	ORPHA:791
HP:0000479	Abnormal retinal morphology	60509	AGBL5	ORPHA:791
HP:0000479	Abnormal retinal morphology	5961	PRPH2	ORPHA:791
HP:0000479	Abnormal retinal morphology	388939	PCARE	ORPHA:791
HP:0000479	Abnormal retinal morphology	9785	DHX38	ORPHA:791
HP:0000479	Abnormal retinal morphology	7287	TULP1	ORPHA:791
HP:0000479	Abnormal retinal morphology	7287	TULP1	OMIM:613843
HP:0000479	Abnormal retinal morphology	5995	RGR	ORPHA:791
HP:0000479	Abnormal retinal morphology	9129	PRPF3	ORPHA:791
HP:0000479	Abnormal retinal morphology	55975	KLHL7	ORPHA:791
HP:0000479	Abnormal retinal morphology	3617	IMPG1	ORPHA:791
HP:0000479	Abnormal retinal morphology	94137	RP1L1	ORPHA:791
HP:0000479	Abnormal retinal morphology	5158	PDE6B	ORPHA:791
HP:0000479	Abnormal retinal morphology	6102	RP2	ORPHA:791
HP:0000479	Abnormal retinal morphology	55857	KIZ	ORPHA:791
HP:0000479	Abnormal retinal morphology	64218	SEMA4A	ORPHA:791
HP:0000479	Abnormal retinal morphology	4901	NRL	ORPHA:791
HP:0000479	Abnormal retinal morphology	157657	CFAP418	ORPHA:791
HP:0000479	Abnormal retinal morphology	84100	ARL6	ORPHA:791
HP:0000479	Abnormal retinal morphology	84100	ARL6	OMIM:209900
HP:0000479	Abnormal retinal morphology	6295	SAG	ORPHA:791
HP:0000479	Abnormal retinal morphology	79947	DHDDS	ORPHA:791
HP:0000479	Abnormal retinal morphology	79947	DHDDS	ORPHA:442835
HP:0000479	Abnormal retinal morphology	10681	GNB5	OMIM:617173
HP:0000479	Abnormal retinal morphology	10681	GNB5	ORPHA:542306
HP:0000479	Abnormal retinal morphology	3028	HSD17B10	OMIM:300438
HP:0000479	Abnormal retinal morphology	3028	HSD17B10	ORPHA:391428
HP:0000479	Abnormal retinal morphology	22901	ARSG	OMIM:618144
HP:0000479	Abnormal retinal morphology	1161	ERCC8	ORPHA:90324
HP:0000479	Abnormal retinal morphology	2074	ERCC6	ORPHA:90324
HP:0000479	Abnormal retinal morphology	1356	CP	OMIM:604290
HP:0000479	Abnormal retinal morphology	1356	CP	ORPHA:48818
HP:0000479	Abnormal retinal morphology	10806	SDCCAG8	OMIM:615993
HP:0000479	Abnormal retinal morphology	10806	SDCCAG8	OMIM:613615
HP:0000479	Abnormal retinal morphology	54585	LZTFL1	OMIM:615994
HP:0000479	Abnormal retinal morphology	338	APOB	OMIM:615558
HP:0000479	Abnormal retinal morphology	755	CFAP410	OMIM:602271
HP:0000479	Abnormal retinal morphology	10283	CWC27	OMIM:250410
HP:0000479	Abnormal retinal morphology	10283	CWC27	ORPHA:166035
HP:0000479	Abnormal retinal morphology	54982	CLN6	OMIM:601780
HP:0000479	Abnormal retinal morphology	285362	SUMF1	OMIM:272200
HP:0000479	Abnormal retinal morphology	23503	ZFYVE26	OMIM:270700
HP:0000479	Abnormal retinal morphology	51741	WWOX	OMIM:616211
HP:0000479	Abnormal retinal morphology	51741	WWOX	OMIM:614322
HP:0000479	Abnormal retinal morphology	51741	WWOX	ORPHA:442835
HP:0000479	Abnormal retinal morphology	4976	OPA1	OMIM:616896
HP:0000479	Abnormal retinal morphology	4081	MAB21L1	OMIM:618479
HP:0000479	Abnormal retinal morphology	85015	USP45	OMIM:618513
HP:0000479	Abnormal retinal morphology	1200	TPP1	OMIM:204500
HP:0000479	Abnormal retinal morphology	7486	WRN	OMIM:277700
HP:0000479	Abnormal retinal morphology	284086	NEK8	OMIM:613824
HP:0000479	Abnormal retinal morphology	10908	PNPLA6	OMIM:275400
HP:0000479	Abnormal retinal morphology	10908	PNPLA6	ORPHA:3363
HP:0000479	Abnormal retinal morphology	80208	SPG11	OMIM:604360
HP:0000479	Abnormal retinal morphology	80208	SPG11	ORPHA:2822
HP:0000479	Abnormal retinal morphology	4125	MAN2B1	OMIM:248500
HP:0000479	Abnormal retinal morphology	5538	PPT1	OMIM:256730
HP:0000479	Abnormal retinal morphology	10560	SLC19A2	OMIM:249270
HP:0000479	Abnormal retinal morphology	1203	CLN5	OMIM:256731
HP:0000479	Abnormal retinal morphology	23090	ZNF423	OMIM:614844
HP:0000479	Abnormal retinal morphology	25974	MMACHC	ORPHA:79282
HP:0000479	Abnormal retinal morphology	22897	CEP164	OMIM:614845
HP:0000479	Abnormal retinal morphology	54148	MRPL39	OMIM:620646
HP:0000479	Abnormal retinal morphology	10383	TUBB4B	OMIM:617879
HP:0000479	Abnormal retinal morphology	79140	CCDC28B	OMIM:209900
HP:0000479	Abnormal retinal morphology	23761	PISD	OMIM:618889
HP:0000479	Abnormal retinal morphology	404672	GTF2H5	ORPHA:33364
HP:0000479	Abnormal retinal morphology	833	CARS1	ORPHA:33364
HP:0000479	Abnormal retinal morphology	7737	RNF113A	ORPHA:33364
HP:0000479	Abnormal retinal morphology	136647	MPLKIP	ORPHA:33364
HP:0000479	Abnormal retinal morphology	6897	TARS1	ORPHA:33364
HP:0000479	Abnormal retinal morphology	16	AARS1	ORPHA:33364
HP:0000479	Abnormal retinal morphology	16	AARS1	ORPHA:442835
HP:0000479	Abnormal retinal morphology	2961	GTF2E2	ORPHA:33364
HP:0000479	Abnormal retinal morphology	29929	ALG6	ORPHA:79320
HP:0000479	Abnormal retinal morphology	1737	DLAT	ORPHA:79244
HP:0000479	Abnormal retinal morphology	285440	CYP4V2	OMIM:210370
HP:0000479	Abnormal retinal morphology	64802	NMNAT1	OMIM:619260
HP:0000479	Abnormal retinal morphology	23155	CLCC1	OMIM:609913
HP:0000479	Abnormal retinal morphology	585	BBS4	OMIM:615982
HP:0000479	Abnormal retinal morphology	1201	CLN3	OMIM:204200
HP:0000479	Abnormal retinal morphology	27241	BBS9	OMIM:615986
HP:0000479	Abnormal retinal morphology	3737	KCNA2	ORPHA:442835
HP:0000479	Abnormal retinal morphology	1759	DNM1	ORPHA:442835
HP:0000479	Abnormal retinal morphology	8120	AP3B2	ORPHA:442835
HP:0000479	Abnormal retinal morphology	523	ATP6V1A	ORPHA:442835
HP:0000479	Abnormal retinal morphology	10991	SLC38A3	ORPHA:442835
HP:0000479	Abnormal retinal morphology	51343	FZR1	ORPHA:442835
HP:0000479	Abnormal retinal morphology	3747	KCNC2	ORPHA:442835
HP:0000479	Abnormal retinal morphology	1917	EEF1A2	ORPHA:442835
HP:0000479	Abnormal retinal morphology	23219	FBXO28	ORPHA:442835
HP:0000479	Abnormal retinal morphology	2561	GABRB2	ORPHA:442835
HP:0000479	Abnormal retinal morphology	8831	SYNGAP1	ORPHA:442835
HP:0000479	Abnormal retinal morphology	2558	GABRA5	ORPHA:442835
HP:0000479	Abnormal retinal morphology	2906	GRIN2D	ORPHA:442835
HP:0000479	Abnormal retinal morphology	116150	NUS1	ORPHA:442835
HP:0000479	Abnormal retinal morphology	1213	CLTC	ORPHA:442835
HP:0000479	Abnormal retinal morphology	23334	SZT2	ORPHA:442835
HP:0000479	Abnormal retinal morphology	348980	HCN1	ORPHA:442835
HP:0000479	Abnormal retinal morphology	25977	NECAP1	ORPHA:442835
HP:0000479	Abnormal retinal morphology	23241	PACS2	ORPHA:442835
HP:0000479	Abnormal retinal morphology	6334	SCN8A	ORPHA:442835
HP:0000479	Abnormal retinal morphology	9568	GABBR2	ORPHA:442835
HP:0000479	Abnormal retinal morphology	2555	GABRA2	ORPHA:442835
HP:0000479	Abnormal retinal morphology	55152	DALRD3	ORPHA:442835
HP:0000479	Abnormal retinal morphology	26999	CYFIP2	ORPHA:442835
HP:0000479	Abnormal retinal morphology	4915	NTRK2	ORPHA:442835
HP:0000479	Abnormal retinal morphology	25973	PARS2	ORPHA:442835
HP:0000479	Abnormal retinal morphology	23097	CDK19	ORPHA:442835
HP:0000479	Abnormal retinal morphology	2257	FGF12	ORPHA:442835
HP:0000479	Abnormal retinal morphology	5530	PPP3CA	ORPHA:442835
HP:0000479	Abnormal retinal morphology	478	ATP1A3	ORPHA:442835
HP:0000479	Abnormal retinal morphology	22906	TRAK1	ORPHA:442835
HP:0000479	Abnormal retinal morphology	2566	GABRG2	ORPHA:442835
HP:0000479	Abnormal retinal morphology	7532	YWHAG	ORPHA:442835
HP:0000479	Abnormal retinal morphology	79876	UBA5	ORPHA:442835
HP:0000479	Abnormal retinal morphology	6328	SCN3A	ORPHA:442835
HP:0000479	Abnormal retinal morphology	781	CACNA2D1	ORPHA:442835
HP:0000479	Abnormal retinal morphology	10659	CELF2	ORPHA:442835
HP:0000479	Abnormal retinal morphology	774	CACNA1B	ORPHA:442835
HP:0000479	Abnormal retinal morphology	51412	ACTL6B	ORPHA:442835
HP:0000479	Abnormal retinal morphology	2290	FOXG1	ORPHA:442835
HP:0000479	Abnormal retinal morphology	6506	SLC1A2	ORPHA:442835
HP:0000479	Abnormal retinal morphology	8867	SYNJ1	ORPHA:442835
HP:0000479	Abnormal retinal morphology	477	ATP1A2	ORPHA:442835
HP:0000479	Abnormal retinal morphology	3745	KCNB1	ORPHA:442835
HP:0000479	Abnormal retinal morphology	284111	SLC13A5	ORPHA:442835
HP:0000479	Abnormal retinal morphology	22866	CNKSR2	ORPHA:442835
HP:0000479	Abnormal retinal morphology	773	CACNA1A	ORPHA:442835
HP:0000479	Abnormal retinal morphology	6323	SCN1A	ORPHA:442835
HP:0000479	Abnormal retinal morphology	4000	LMNA	ORPHA:79474
HP:0000479	Abnormal retinal morphology	10464	PIBF1	OMIM:617767
HP:0000479	Abnormal retinal morphology	169522	KCNV2	OMIM:610356
HP:0000479	Abnormal retinal morphology	55768	NGLY1	ORPHA:404454
HP:0000479	Abnormal retinal morphology	80216	ALPK1	OMIM:614979
HP:0000479	Abnormal retinal morphology	27183	VPS4A	OMIM:619273
HP:0000479	Abnormal retinal morphology	25970	SH2B1	ORPHA:261222
HP:0000479	Abnormal retinal morphology	4750	NEK1	OMIM:263520
HP:0000479	Abnormal retinal morphology	92482	BBIP1	OMIM:615995
HP:0000479	Abnormal retinal morphology	92482	BBIP1	ORPHA:110
HP:0000479	Abnormal retinal morphology	54973	INTS11	OMIM:620428
HP:0000479	Abnormal retinal morphology	100151683	RNU4ATAC	ORPHA:353298
HP:0000479	Abnormal retinal morphology	100151683	RNU4ATAC	OMIM:616651
HP:0000479	Abnormal retinal morphology	2896	GRN	OMIM:614706
HP:0000479	Abnormal retinal morphology	5631	PRPS1	ORPHA:423479
HP:0000479	Abnormal retinal morphology	4867	NPHP1	OMIM:266900
HP:0000479	Abnormal retinal morphology	4867	NPHP1	ORPHA:110
HP:0000479	Abnormal retinal morphology	4867	NPHP1	ORPHA:3156
HP:0000479	Abnormal retinal morphology	64801	ARV1	OMIM:617020
HP:0000479	Abnormal retinal morphology	219854	TMEM218	OMIM:619562
HP:0000479	Abnormal retinal morphology	8882	ZPR1	OMIM:619321
HP:0000479	Abnormal retinal morphology	80055	PGAP1	OMIM:615802
HP:0000479	Abnormal retinal morphology	50	ACO2	OMIM:614559
HP:0000479	Abnormal retinal morphology	51010	EXOSC3	OMIM:614678
HP:0000479	Abnormal retinal morphology	128338	DRAM2	OMIM:616502
HP:0000479	Abnormal retinal morphology	4358	MPV17	OMIM:256810
HP:0000479	Abnormal retinal morphology	5015	OTX2	OMIM:610125
HP:0000479	Abnormal retinal morphology	51109	RDH11	OMIM:616108
HP:0000479	Abnormal retinal morphology	26146	TRAF3IP1	OMIM:616629
HP:0000479	Abnormal retinal morphology	26146	TRAF3IP1	ORPHA:3156
HP:0000479	Abnormal retinal morphology	51524	TMEM138	ORPHA:2318
HP:0000479	Abnormal retinal morphology	51524	TMEM138	OMIM:614465
HP:0000479	Abnormal retinal morphology	55764	IFT122	OMIM:218330
HP:0000479	Abnormal retinal morphology	54539	NDUFB11	ORPHA:2556
HP:0000479	Abnormal retinal morphology	1349	COX7B	ORPHA:2556
HP:0000479	Abnormal retinal morphology	3052	HCCS	ORPHA:2556
HP:0000479	Abnormal retinal morphology	57531	HACE1	ORPHA:464282
HP:0000479	Abnormal retinal morphology	57531	HACE1	OMIM:616756
HP:0000479	Abnormal retinal morphology	283987	HID1	OMIM:619983
HP:0000479	Abnormal retinal morphology	5277	PIGA	OMIM:300868
HP:0000479	Abnormal retinal morphology	9445	ITM2B	OMIM:616079
HP:0000479	Abnormal retinal morphology	1410	CRYAB	OMIM:613763
HP:0000479	Abnormal retinal morphology	5950	RBP4	OMIM:615147
HP:0000479	Abnormal retinal morphology	5230	PGK1	ORPHA:713
HP:0000479	Abnormal retinal morphology	5230	PGK1	OMIM:300653
HP:0000479	Abnormal retinal morphology	7840	ALMS1	ORPHA:64
HP:0000479	Abnormal retinal morphology	11020	IFT27	ORPHA:110
HP:0000479	Abnormal retinal morphology	51057	WDPCP	ORPHA:110
HP:0000479	Abnormal retinal morphology	132320	SCLT1	ORPHA:110
HP:0000479	Abnormal retinal morphology	84984	CEP19	ORPHA:110
HP:0000479	Abnormal retinal morphology	79738	BBS10	ORPHA:110
HP:0000479	Abnormal retinal morphology	79738	BBS10	OMIM:615987
HP:0000479	Abnormal retinal morphology	8195	MKKS	ORPHA:110
HP:0000479	Abnormal retinal morphology	55212	BBS7	ORPHA:110
HP:0000479	Abnormal retinal morphology	166379	BBS12	ORPHA:110
HP:0000479	Abnormal retinal morphology	129880	BBS5	ORPHA:110
HP:0000479	Abnormal retinal morphology	80173	IFT74	ORPHA:110
HP:0000479	Abnormal retinal morphology	55213	RCBTB1	OMIM:617175
HP:0000479	Abnormal retinal morphology	134218	DNAJC21	OMIM:617052
HP:0000479	Abnormal retinal morphology	1182	CLCN3	OMIM:619512
HP:0000479	Abnormal retinal morphology	286	ANK1	ORPHA:251066
HP:0000479	Abnormal retinal morphology	92002	CCNQ	ORPHA:140952
HP:0000479	Abnormal retinal morphology	80210	ARMC9	OMIM:617622
HP:0000479	Abnormal retinal morphology	284217	LAMA1	OMIM:615960
HP:0000479	Abnormal retinal morphology	284217	LAMA1	ORPHA:370022
HP:0000479	Abnormal retinal morphology	57728	WDR19	OMIM:616307
HP:0000479	Abnormal retinal morphology	57728	WDR19	ORPHA:3156
HP:0000479	Abnormal retinal morphology	4921	DDR2	OMIM:618175
HP:0000479	Abnormal retinal morphology	2202	EFEMP1	OMIM:126600
HP:0000479	Abnormal retinal morphology	9657	IQCB1	ORPHA:3156
HP:0000479	Abnormal retinal morphology	27130	INVS	ORPHA:3156
HP:0000479	Abnormal retinal morphology	261734	NPHP4	ORPHA:3156
HP:0000479	Abnormal retinal morphology	27031	NPHP3	ORPHA:3156
HP:0000479	Abnormal retinal morphology	9935	MAFB	ORPHA:233
HP:0000479	Abnormal retinal morphology	1123	CHN1	ORPHA:233
HP:0000479	Abnormal retinal morphology	64840	PORCN	OMIM:305600
HP:0000479	Abnormal retinal morphology	64840	PORCN	ORPHA:2092
HP:0000479	Abnormal retinal morphology	8260	NAA10	OMIM:309800
HP:0000479	Abnormal retinal morphology	8260	NAA10	ORPHA:568
HP:0000479	Abnormal retinal morphology	6711	SPTBN1	OMIM:619475
HP:0000479	Abnormal retinal morphology	6469	SHH	OMIM:611638
HP:0000479	Abnormal retinal morphology	79759	ZNF668	OMIM:620194
HP:0000479	Abnormal retinal morphology	6299	SALL1	OMIM:107480
HP:0000479	Abnormal retinal morphology	6299	SALL1	ORPHA:857
HP:0000479	Abnormal retinal morphology	3149	HMGB3	OMIM:300915
HP:0000479	Abnormal retinal morphology	4149	MAX	OMIM:620712
HP:0000479	Abnormal retinal morphology	51339	DACT1	ORPHA:857
HP:0000479	Abnormal retinal morphology	9573	GDF3	OMIM:613702
HP:0000479	Abnormal retinal morphology	9723	SEMA3E	ORPHA:138
HP:0000479	Abnormal retinal morphology	113246	C12orf57	OMIM:218340
HP:0000479	Abnormal retinal morphology	51322	WAC	ORPHA:284169
HP:0000479	Abnormal retinal morphology	473	RERE	ORPHA:494344
HP:0000479	Abnormal retinal morphology	57020	VPS35L	OMIM:619135
HP:0000479	Abnormal retinal morphology	57020	VPS35L	ORPHA:7
HP:0000479	Abnormal retinal morphology	55733	HHAT	ORPHA:1422
HP:0000479	Abnormal retinal morphology	8777	MPDZ	OMIM:615219
HP:0000479	Abnormal retinal morphology	6496	SIX3	OMIM:157170
HP:0000479	Abnormal retinal morphology	50945	TBX22	ORPHA:921
HP:0000479	Abnormal retinal morphology	9897	WASHC5	ORPHA:7
HP:0000479	Abnormal retinal morphology	28952	CCDC22	ORPHA:7
HP:0000479	Abnormal retinal morphology	56896	DPYSL5	ORPHA:7
HP:0000479	Abnormal retinal morphology	2639	GCDH	ORPHA:25
HP:0000479	Abnormal retinal morphology	3458	IFNG	ORPHA:88
HP:0000479	Abnormal retinal morphology	5551	PRF1	ORPHA:88
HP:0000479	Abnormal retinal morphology	7012	TERC	ORPHA:88
HP:0000479	Abnormal retinal morphology	51119	SBDS	ORPHA:88
HP:0000479	Abnormal retinal morphology	4615	MYD88	ORPHA:33226
HP:0000479	Abnormal retinal morphology	64131	XYLT1	OMIM:264800
HP:0000479	Abnormal retinal morphology	1785	DNM2	OMIM:615368
HP:0000479	Abnormal retinal morphology	667	DST	OMIM:614653
HP:0000479	Abnormal retinal morphology	4558	MT-TF	ORPHA:550
HP:0000479	Abnormal retinal morphology	4572	MT-TQ	ORPHA:550
HP:0000479	Abnormal retinal morphology	4512	MT-CO1	ORPHA:550
HP:0000479	Abnormal retinal morphology	4513	MT-CO2	ORPHA:550
HP:0000479	Abnormal retinal morphology	4514	MT-CO3	ORPHA:550
HP:0000479	Abnormal retinal morphology	4574	MT-TS1	ORPHA:550
HP:0000479	Abnormal retinal morphology	4574	MT-TS1	OMIM:220110
HP:0000479	Abnormal retinal morphology	4575	MT-TS2	ORPHA:550
HP:0000479	Abnormal retinal morphology	4564	MT-TH	ORPHA:550
HP:0000479	Abnormal retinal morphology	54892	NCAPG2	OMIM:618460
HP:0000479	Abnormal retinal morphology	4570	MT-TN	OMIM:220110
HP:0000479	Abnormal retinal morphology	6834	SURF1	OMIM:220110
HP:0000479	Abnormal retinal morphology	246243	RNASEH1	ORPHA:329336
HP:0000479	Abnormal retinal morphology	84334	COA8	ORPHA:436271
HP:0000479	Abnormal retinal morphology	51103	NDUFAF1	OMIM:618234
HP:0000479	Abnormal retinal morphology	1351	COX8A	OMIM:619059
HP:0000479	Abnormal retinal morphology	55154	MSTO1	OMIM:617675
HP:0000479	Abnormal retinal morphology	55154	MSTO1	ORPHA:502423
HP:0000479	Abnormal retinal morphology	80201	HKDC1	OMIM:619614
HP:0000479	Abnormal retinal morphology	80324	PUS1	OMIM:600462
HP:0000479	Abnormal retinal morphology	7466	WFS1	OMIM:222300
HP:0000479	Abnormal retinal morphology	857	CAV1	OMIM:606721
HP:0000479	Abnormal retinal morphology	51102	MECR	OMIM:617282
HP:0000479	Abnormal retinal morphology	4591	TRIM37	OMIM:253250
HP:0000479	Abnormal retinal morphology	100996717	NOTCH2NLC	OMIM:619473
HP:0000479	Abnormal retinal morphology	81689	ISCA1	OMIM:617613
HP:0000479	Abnormal retinal morphology	3032	HADHB	ORPHA:746
HP:0000479	Abnormal retinal morphology	200894	ARL13B	OMIM:612291
HP:0000479	Abnormal retinal morphology	182	JAG1	OMIM:118450
HP:0000479	Abnormal retinal morphology	3033	HADH	ORPHA:71212
HP:0000479	Abnormal retinal morphology	11128	POLR3A	ORPHA:3455
HP:0000479	Abnormal retinal morphology	9968	MED12	OMIM:301068
HP:0000479	Abnormal retinal morphology	2937	GSS	OMIM:266130
HP:0000479	Abnormal retinal morphology	326	AIRE	OMIM:240300
HP:0000479	Abnormal retinal morphology	6389	SDHA	ORPHA:3208
HP:0000479	Abnormal retinal morphology	6389	SDHA	OMIM:252011
HP:0000479	Abnormal retinal morphology	6390	SDHB	ORPHA:3208
HP:0000479	Abnormal retinal morphology	6392	SDHD	ORPHA:3208
HP:0000479	Abnormal retinal morphology	644096	SDHAF1	ORPHA:3208
HP:0000479	Abnormal retinal morphology	5052	PRDX1	OMIM:277400
HP:0000479	Abnormal retinal morphology	735	C9	OMIM:615591
HP:0000479	Abnormal retinal morphology	5654	HTRA1	OMIM:610149
HP:0000479	Abnormal retinal morphology	1471	CST3	OMIM:611953
HP:0000479	Abnormal retinal morphology	23078	VWA8	OMIM:620422
HP:0000479	Abnormal retinal morphology	10516	FBLN5	OMIM:608895
HP:0000479	Abnormal retinal morphology	10516	FBLN5	OMIM:619764
HP:0000479	Abnormal retinal morphology	6314	ATXN7	OMIM:164500
HP:0000479	Abnormal retinal morphology	6314	ATXN7	ORPHA:94147
HP:0000479	Abnormal retinal morphology	10878	CFHR3	OMIM:603075
HP:0000479	Abnormal retinal morphology	83872	HMCN1	OMIM:603075
HP:0000479	Abnormal retinal morphology	3078	CFHR1	OMIM:603075
HP:0000479	Abnormal retinal morphology	2192	FBLN1	ORPHA:404451
HP:0000479	Abnormal retinal morphology	427	ASAH1	ORPHA:333
HP:0000479	Abnormal retinal morphology	55129	ANO10	ORPHA:284289
HP:0000479	Abnormal retinal morphology	84131	CEP78	OMIM:617236
HP:0000479	Abnormal retinal morphology	3980	LIG3	OMIM:619780
HP:0000479	Abnormal retinal morphology	2201	FBN2	OMIM:616118
HP:0000479	Abnormal retinal morphology	344	APOC2	OMIM:207750
HP:0000479	Abnormal retinal morphology	2538	G6PC1	OMIM:232200
HP:0000479	Abnormal retinal morphology	338328	GPIHBP1	OMIM:615947
HP:0000479	Abnormal retinal morphology	4023	LPL	OMIM:238600
HP:0000479	Abnormal retinal morphology	2542	SLC37A4	OMIM:232220
HP:0000479	Abnormal retinal morphology	3291	HSD11B2	ORPHA:320
HP:0000479	Abnormal retinal morphology	3291	HSD11B2	OMIM:218030
HP:0000479	Abnormal retinal morphology	55654	TMEM127	OMIM:171300
HP:0000479	Abnormal retinal morphology	55654	TMEM127	ORPHA:29072
HP:0000479	Abnormal retinal morphology	5979	RET	OMIM:171300
HP:0000479	Abnormal retinal morphology	5979	RET	ORPHA:29072
HP:0000479	Abnormal retinal morphology	5979	RET	ORPHA:276621
HP:0000479	Abnormal retinal morphology	1743	DLST	ORPHA:29072
HP:0000479	Abnormal retinal morphology	23095	KIF1B	ORPHA:29072
HP:0000479	Abnormal retinal morphology	2271	FH	ORPHA:29072
HP:0000479	Abnormal retinal morphology	8402	SLC25A11	ORPHA:29072
HP:0000479	Abnormal retinal morphology	54949	SDHAF2	ORPHA:29072
HP:0000479	Abnormal retinal morphology	4763	NF1	ORPHA:29072
HP:0000479	Abnormal retinal morphology	6391	SDHC	ORPHA:29072
HP:0000479	Abnormal retinal morphology	1788	DNMT3A	ORPHA:276621
HP:0000479	Abnormal retinal morphology	2034	EPAS1	ORPHA:276621
HP:0000479	Abnormal retinal morphology	2591	GALNT3	OMIM:211900
HP:0000479	Abnormal retinal morphology	5290	PIK3CA	OMIM:615108
HP:0000479	Abnormal retinal morphology	207	AKT1	OMIM:615109
HP:0000479	Abnormal retinal morphology	2677	GGCX	OMIM:610842
HP:0000479	Abnormal retinal morphology	2677	GGCX	ORPHA:91135
HP:0000479	Abnormal retinal morphology	6609	SMPD1	OMIM:607616
HP:0000479	Abnormal retinal morphology	22926	ATF6	ORPHA:49382
HP:0000479	Abnormal retinal morphology	5146	PDE6C	ORPHA:49382
HP:0000479	Abnormal retinal morphology	5149	PDE6H	ORPHA:49382
HP:0000479	Abnormal retinal morphology	2780	GNAT2	ORPHA:49382
HP:0000479	Abnormal retinal morphology	1261	CNGA3	ORPHA:49382
HP:0000479	Abnormal retinal morphology	54714	CNGB3	ORPHA:49382
HP:0000479	Abnormal retinal morphology	8943	AP3D1	ORPHA:54
HP:0000479	Abnormal retinal morphology	4935	GPR143	ORPHA:54
HP:0000479	Abnormal retinal morphology	324	APC	ORPHA:99818
HP:0000479	Abnormal retinal morphology	57724	EPG5	ORPHA:1493
HP:0000479	Abnormal retinal morphology	1908	EDN3	ORPHA:897
HP:0000479	Abnormal retinal morphology	1910	EDNRB	ORPHA:897
HP:0000479	Abnormal retinal morphology	6663	SOX10	ORPHA:897
HP:0000479	Abnormal retinal morphology	9382	COG1	ORPHA:263508
HP:0000479	Abnormal retinal morphology	4942	OAT	ORPHA:414
HP:0000479	Abnormal retinal morphology	10682	EBP	OMIM:300960
HP:0000479	Abnormal retinal morphology	1806	DPYD	ORPHA:1675
HP:0000479	Abnormal retinal morphology	406987	MIR204	OMIM:616722
HP:0000479	Abnormal retinal morphology	10273	STUB1	ORPHA:412057
HP:0000479	Abnormal retinal morphology	1509	CTSD	OMIM:610127
HP:0000479	Abnormal retinal morphology	171023	ASXL1	ORPHA:97297
HP:0000479	Abnormal retinal morphology	51095	TRNT1	OMIM:616959
HP:0000479	Abnormal retinal morphology	89910	UBE3B	ORPHA:2707
HP:0000479	Abnormal retinal morphology	84168	ANTXR1	OMIM:230740
HP:0000479	Abnormal retinal morphology	6804	STX1A	ORPHA:904
HP:0000479	Abnormal retinal morphology	7461	CLIP2	ORPHA:904
HP:0000479	Abnormal retinal morphology	8468	FKBP6	ORPHA:904
HP:0000479	Abnormal retinal morphology	5982	RFC2	ORPHA:904
HP:0000479	Abnormal retinal morphology	2969	GTF2I	ORPHA:904
HP:0000479	Abnormal retinal morphology	3984	LIMK1	ORPHA:904
HP:0000479	Abnormal retinal morphology	9569	GTF2IRD1	ORPHA:904
HP:0000479	Abnormal retinal morphology	155382	VPS37D	ORPHA:904
HP:0000479	Abnormal retinal morphology	155368	METTL27	ORPHA:904
HP:0000479	Abnormal retinal morphology	114049	BUD23	ORPHA:904
HP:0000479	Abnormal retinal morphology	7458	EIF4H	ORPHA:904
HP:0000479	Abnormal retinal morphology	84163	GTF2IRD2	ORPHA:904
HP:0000479	Abnormal retinal morphology	26608	TBL2	ORPHA:904
HP:0000479	Abnormal retinal morphology	653361	NCF1	ORPHA:904
HP:0000479	Abnormal retinal morphology	135886	TMEM270	ORPHA:904
HP:0000479	Abnormal retinal morphology	9031	BAZ1B	ORPHA:904
HP:0000479	Abnormal retinal morphology	2006	ELN	ORPHA:904
HP:0000479	Abnormal retinal morphology	2006	ELN	OMIM:194050
HP:0000479	Abnormal retinal morphology	51085	MLXIPL	OMIM:194050
HP:0000479	Abnormal retinal morphology	1312	COMT	ORPHA:567
HP:0000479	Abnormal retinal morphology	221037	JMJD1C	ORPHA:567
HP:0000479	Abnormal retinal morphology	2812	GP1BB	ORPHA:567
HP:0000479	Abnormal retinal morphology	6239	RREB1	ORPHA:567
HP:0000479	Abnormal retinal morphology	7290	HIRA	ORPHA:567
HP:0000479	Abnormal retinal morphology	9632	SEC24C	ORPHA:567
HP:0000479	Abnormal retinal morphology	7353	UFD1	ORPHA:567
HP:0000479	Abnormal retinal morphology	421	ARVCF	ORPHA:567
HP:0000479	Abnormal retinal morphology	2629	GBA1	OMIM:230800
HP:0000479	Abnormal retinal morphology	8565	YARS1	OMIM:619418
HP:0000479	Abnormal retinal morphology	2263	FGFR2	ORPHA:313855
HP:0000479	Abnormal retinal morphology	83696	TRAPPC9	ORPHA:352530
HP:0000479	Abnormal retinal morphology	388015	RTL1	ORPHA:96334
HP:0000479	Abnormal retinal morphology	8788	DLK1	ORPHA:96334
HP:0000479	Abnormal retinal morphology	55384	MEG3	ORPHA:96334
HP:0000479	Abnormal retinal morphology	6873	TAF2	ORPHA:397951
HP:0000479	Abnormal retinal morphology	63916	ELMO2	ORPHA:3019
HP:0000479	Abnormal retinal morphology	26504	CNNM4	ORPHA:1873
HP:0000479	Abnormal retinal morphology	84839	RAX2	ORPHA:1872
HP:0000479	Abnormal retinal morphology	5956	OPN1LW	ORPHA:1872
HP:0000479	Abnormal retinal morphology	5956	OPN1LW	ORPHA:16
HP:0000479	Abnormal retinal morphology	8754	ADAM9	ORPHA:1872
HP:0000479	Abnormal retinal morphology	3000	GUCY2D	ORPHA:1872
HP:0000479	Abnormal retinal morphology	3000	GUCY2D	ORPHA:65
HP:0000479	Abnormal retinal morphology	22999	RIMS1	ORPHA:1872
HP:0000479	Abnormal retinal morphology	2652	OPN1MW	ORPHA:1872
HP:0000479	Abnormal retinal morphology	2652	OPN1MW	ORPHA:16
HP:0000479	Abnormal retinal morphology	9094	UNC119	ORPHA:1872
HP:0000479	Abnormal retinal morphology	93589	CACNA2D4	ORPHA:1872
HP:0000479	Abnormal retinal morphology	93589	CACNA2D4	ORPHA:215
HP:0000479	Abnormal retinal morphology	2978	GUCA1A	ORPHA:1872
HP:0000479	Abnormal retinal morphology	2978	GUCA1A	ORPHA:1871
HP:0000479	Abnormal retinal morphology	282809	POC1B	ORPHA:1872
HP:0000479	Abnormal retinal morphology	83394	PITPNM3	ORPHA:1872
HP:0000479	Abnormal retinal morphology	23093	TTLL5	ORPHA:1872
HP:0000479	Abnormal retinal morphology	83723	TLCD3B	ORPHA:1872
HP:0000479	Abnormal retinal morphology	23746	AIPL1	ORPHA:1872
HP:0000479	Abnormal retinal morphology	23746	AIPL1	ORPHA:65
HP:0000479	Abnormal retinal morphology	9364	RAB28	ORPHA:1872
HP:0000479	Abnormal retinal morphology	22880	MORC2	ORPHA:466768
HP:0000479	Abnormal retinal morphology	65082	VPS33A	ORPHA:505248
HP:0000479	Abnormal retinal morphology	26022	TMEM98	ORPHA:35612
HP:0000479	Abnormal retinal morphology	6657	SOX2	ORPHA:35612
HP:0000479	Abnormal retinal morphology	646960	PRSS56	ORPHA:35612
HP:0000479	Abnormal retinal morphology	83552	MFRP	ORPHA:35612
HP:0000479	Abnormal retinal morphology	30062	RAX	ORPHA:35612
HP:0000479	Abnormal retinal morphology	6023	RMRP	ORPHA:175
HP:0000479	Abnormal retinal morphology	1130	LYST	ORPHA:167
HP:0000479	Abnormal retinal morphology	7274	TTPA	ORPHA:96
HP:0000479	Abnormal retinal morphology	54476	RNF216	ORPHA:1173
HP:0000479	Abnormal retinal morphology	3075	CFH	ORPHA:75376
HP:0000479	Abnormal retinal morphology	3426	CFI	ORPHA:75376
HP:0000479	Abnormal retinal morphology	9851	KIAA0753	ORPHA:474
HP:0000479	Abnormal retinal morphology	55112	DYNC2I1	ORPHA:474
HP:0000479	Abnormal retinal morphology	57560	IFT80	ORPHA:474
HP:0000479	Abnormal retinal morphology	51626	DYNC2LI1	ORPHA:474
HP:0000479	Abnormal retinal morphology	79659	DYNC2H1	ORPHA:474
HP:0000479	Abnormal retinal morphology	89891	DYNC2I2	ORPHA:474
HP:0000479	Abnormal retinal morphology	79809	TTC21B	ORPHA:474
HP:0000479	Abnormal retinal morphology	343035	RD3	ORPHA:65
HP:0000479	Abnormal retinal morphology	5130	PCYT1A	ORPHA:65
HP:0000479	Abnormal retinal morphology	5130	PCYT1A	ORPHA:85167
HP:0000479	Abnormal retinal morphology	392255	GDF6	ORPHA:65
HP:0000479	Abnormal retinal morphology	6197	RPS6KA3	ORPHA:192
HP:0000479	Abnormal retinal morphology	157680	VPS13B	ORPHA:193
HP:0000479	Abnormal retinal morphology	63895	PIEZO2	OMIM:108145
HP:0000479	Abnormal retinal morphology	5184	PEPD	ORPHA:742
HP:0000479	Abnormal retinal morphology	1121	CHM	ORPHA:180
HP:0000479	Abnormal retinal morphology	8792	TNFRSF11A	ORPHA:2801
HP:0000479	Abnormal retinal morphology	4308	TRPM1	ORPHA:215
HP:0000479	Abnormal retinal morphology	57010	CABP4	ORPHA:215
HP:0000479	Abnormal retinal morphology	345193	LRIT3	ORPHA:215
HP:0000479	Abnormal retinal morphology	2916	GRM6	ORPHA:215
HP:0000479	Abnormal retinal morphology	440435	GPR179	ORPHA:215
HP:0000479	Abnormal retinal morphology	6011	GRK1	ORPHA:215
HP:0000479	Abnormal retinal morphology	9187	SLC24A1	ORPHA:215
HP:0000479	Abnormal retinal morphology	2784	GNB3	ORPHA:215
HP:0000479	Abnormal retinal morphology	2779	GNAT1	ORPHA:215
HP:0000479	Abnormal retinal morphology	60506	NYX	ORPHA:215
HP:0000479	Abnormal retinal morphology	149461	CLDN19	ORPHA:2196
HP:0000479	Abnormal retinal morphology	27229	TUBGCP4	ORPHA:2518
HP:0000479	Abnormal retinal morphology	2317	FLNB	OMIM:272460
HP:0000479	Abnormal retinal morphology	56980	PRDM10	ORPHA:122
HP:0000479	Abnormal retinal morphology	201163	FLCN	ORPHA:122
HP:0000479	Abnormal retinal morphology	9990	SLC12A6	ORPHA:1496
HP:0000479	Abnormal retinal morphology	4948	OCA2	ORPHA:79432
HP:0000479	Abnormal retinal morphology	7299	TYR	ORPHA:79434
HP:0000479	Abnormal retinal morphology	51151	SLC45A2	ORPHA:79435
HP:0000479	Abnormal retinal morphology	4952	OCRL	ORPHA:534
HP:0000479	Abnormal retinal morphology	63915	BLOC1S5	OMIM:619172
HP:0000479	Abnormal retinal morphology	57479	PRR12	OMIM:619539
HP:0000479	Abnormal retinal morphology	7360	UGP2	OMIM:618744
HP:0000479	Abnormal retinal morphology	92154	MTSS2	OMIM:620086
HP:0000479	Abnormal retinal morphology	146167	SLC38A8	OMIM:609218
HP:0000479	Abnormal retinal morphology	89781	HPS4	OMIM:614073
HP:0000479	Abnormal retinal morphology	11234	HPS5	OMIM:614074
HP:0000479	Abnormal retinal morphology	388552	BLOC1S3	OMIM:614077
HP:0000479	Abnormal retinal morphology	3708	ITPR1	OMIM:206700
HP:0000479	Abnormal retinal morphology	60386	SLC25A19	OMIM:607196
HP:0000479	Abnormal retinal morphology	4166	CHST6	OMIM:217800
HP:0000479	Abnormal retinal morphology	344658	SAMD7	OMIM:620762
HP:0000479	Abnormal retinal morphology	93426	SYCE1	OMIM:616947
HP:0000479	Abnormal retinal morphology	80169	CTC1	OMIM:612199
HP:0000479	Abnormal retinal morphology	2658	GDF2	ORPHA:774
HP:0000479	Abnormal retinal morphology	94	ACVRL1	ORPHA:774
HP:0000479	Abnormal retinal morphology	4089	SMAD4	ORPHA:774
HP:0000479	Abnormal retinal morphology	2022	ENG	ORPHA:774
HP:0000479	Abnormal retinal morphology	84277	DNAJC30	OMIM:619382
HP:0000479	Abnormal retinal morphology	84277	DNAJC30	ORPHA:104
HP:0000479	Abnormal retinal morphology	79991	STN1	OMIM:617341
HP:0000479	Abnormal retinal morphology	5111	PCNA	ORPHA:438134
HP:0000479	Abnormal retinal morphology	4720	NDUFS2	ORPHA:104
HP:0000479	Abnormal retinal morphology	4519	MT-CYB	ORPHA:104
HP:0000479	Abnormal retinal morphology	4539	MT-ND4L	ORPHA:104
HP:0000479	Abnormal retinal morphology	889	KRIT1	OMIM:116860
HP:0000479	Abnormal retinal morphology	85465	SELENOI	ORPHA:506353
HP:0000479	Abnormal retinal morphology	4683	NBN	OMIM:251260
HP:0000479	Abnormal retinal morphology	4329	ALDH6A1	OMIM:614105
HP:0000479	Abnormal retinal morphology	56652	TWNK	OMIM:607459
HP:0000479	Abnormal retinal morphology	27072	VPS41	OMIM:619389
HP:0000479	Abnormal retinal morphology	51098	IFT52	OMIM:617102
HP:0000479	Abnormal retinal morphology	3035	HARS1	OMIM:614504
HP:0000479	Abnormal retinal morphology	25914	RTTN	ORPHA:468631
HP:0000479	Abnormal retinal morphology	6742	SSBP1	OMIM:165510
HP:0000479	Abnormal retinal morphology	112752	IFT43	OMIM:617871
HP:0000479	Abnormal retinal morphology	8449	DHX16	OMIM:618733
HP:0000479	Abnormal retinal morphology	63901	FAM111A	OMIM:127000
HP:0000479	Abnormal retinal morphology	63901	FAM111A	ORPHA:93325
HP:0000479	Abnormal retinal morphology	59	ACTA2	OMIM:613834
HP:0000479	Abnormal retinal morphology	26277	TINF2	OMIM:268130
HP:0000479	Abnormal retinal morphology	26277	TINF2	OMIM:613990
HP:0000479	Abnormal retinal morphology	26278	SACS	ORPHA:98
HP:0000479	Abnormal retinal morphology	26278	SACS	OMIM:270550
HP:0000479	Abnormal retinal morphology	5159	PDGFRB	OMIM:601812
HP:0000479	Abnormal retinal morphology	7003	TEAD1	OMIM:108985
HP:0000479	Abnormal retinal morphology	1495	CTNNA1	OMIM:608970
HP:0000479	Abnormal retinal morphology	5147	PDE6D	OMIM:615665
HP:0000479	Abnormal retinal morphology	103	ADAR	ORPHA:41
HP:0000479	Abnormal retinal morphology	1593	CYP27A1	ORPHA:909
HP:0000479	Abnormal retinal morphology	23474	ETHE1	OMIM:602473
HP:0000479	Abnormal retinal morphology	1188	CLCNKB	OMIM:607364
HP:0000479	Abnormal retinal morphology	220202	ATOH7	OMIM:221900
HP:0000479	Abnormal retinal morphology	220202	ATOH7	ORPHA:91495
HP:0000479	Abnormal retinal morphology	283652	SLC24A5	ORPHA:370097
HP:0000479	Abnormal retinal morphology	2296	FOXC1	ORPHA:250923
HP:0000479	Abnormal retinal morphology	54765	TRIM44	ORPHA:250923
HP:0000479	Abnormal retinal morphology	7249	TSC2	OMIM:613254
HP:0000479	Abnormal retinal morphology	7249	TSC2	ORPHA:805
HP:0000479	Abnormal retinal morphology	7249	TSC2	ORPHA:538
HP:0000479	Abnormal retinal morphology	7248	TSC1	ORPHA:805
HP:0000479	Abnormal retinal morphology	7248	TSC1	OMIM:191100
HP:0000479	Abnormal retinal morphology	7248	TSC1	ORPHA:538
HP:0000479	Abnormal retinal morphology	4771	NF2	ORPHA:637
HP:0000479	Abnormal retinal morphology	4771	NF2	OMIM:101000
HP:0000479	Abnormal retinal morphology	5925	RB1	ORPHA:1587
HP:0000479	Abnormal retinal morphology	5925	RB1	OMIM:180200
HP:0000479	Abnormal retinal morphology	5925	RB1	OMIM:259500
HP:0000479	Abnormal retinal morphology	7157	TP53	OMIM:259500
HP:0000479	Abnormal retinal morphology	11200	CHEK2	OMIM:259500
HP:0000479	Abnormal retinal morphology	5476	CTSA	ORPHA:351
HP:0000479	Abnormal retinal morphology	5476	CTSA	OMIM:256540
HP:0000479	Abnormal retinal morphology	3074	HEXB	ORPHA:309155
HP:0000479	Abnormal retinal morphology	3074	HEXB	OMIM:268800
HP:0000479	Abnormal retinal morphology	2517	FUCA1	OMIM:230000
HP:0000479	Abnormal retinal morphology	2720	GLB1	OMIM:230500
HP:0000479	Abnormal retinal morphology	2720	GLB1	OMIM:230650
HP:0000479	Abnormal retinal morphology	2720	GLB1	ORPHA:79255
HP:0000479	Abnormal retinal morphology	2581	GALC	ORPHA:206436
HP:0000479	Abnormal retinal morphology	5660	PSAP	ORPHA:206436
HP:0000479	Abnormal retinal morphology	3073	HEXA	OMIM:272800
HP:0000479	Abnormal retinal morphology	1615	DARS1	OMIM:615281
HP:0000479	Abnormal retinal morphology	2760	GM2A	ORPHA:309246
HP:0000479	Abnormal retinal morphology	10730	YME1L1	OMIM:617302
HP:0000479	Abnormal retinal morphology	54499	TMCO1	OMIM:213980
HP:0000479	Abnormal retinal morphology	54675	CRLS1	OMIM:620167
HP:0000479	Abnormal retinal morphology	7123	CLEC3B	OMIM:619977
HP:0000479	Abnormal retinal morphology	83715	ESPN	OMIM:618632
HP:0000479	Abnormal retinal morphology	11235	PDCD10	ORPHA:221061
HP:0000479	Abnormal retinal morphology	83605	CCM2	ORPHA:221061
HP:0000479	Abnormal retinal morphology	5322	PLA2G5	OMIM:228980
HP:0000479	Abnormal retinal morphology	3490	IGFBP7	OMIM:614224
HP:0000479	Abnormal retinal morphology	2161	F12	ORPHA:330
HP:0000479	Abnormal retinal morphology	4016	LOXL1	OMIM:177650
HP:0000479	Abnormal retinal morphology	462	SERPINC1	ORPHA:82
HP:0000479	Abnormal retinal morphology	1545	CYP1B1	ORPHA:98977
HP:0000479	Abnormal retinal morphology	4653	MYOC	ORPHA:98977
HP:0000479	Abnormal retinal morphology	54487	DGCR8	OMIM:192430
HP:0000479	Abnormal retinal morphology	6899	TBX1	OMIM:192430
HP:0000479	Abnormal retinal morphology	8214	DGCR6	OMIM:192430
HP:0000479	Abnormal retinal morphology	8220	ESS2	OMIM:192430
HP:0000479	Abnormal retinal morphology	9993	DGCR2	OMIM:192430
HP:0000479	Abnormal retinal morphology	1063	CENPF	OMIM:243605
HP:0000479	Abnormal retinal morphology	7490	WT1	OMIM:106210
HP:0000479	Abnormal retinal morphology	51816	ADA2	ORPHA:820
HP:0000479	Abnormal retinal morphology	10625	IVNS1ABP	OMIM:618969
HP:0000479	Abnormal retinal morphology	3932	LCK	OMIM:615758
HP:0000479	Abnormal retinal morphology	23545	ATP6V0A2	ORPHA:357074
HP:0000479	Abnormal retinal morphology	529	ATP6V1E1	ORPHA:357074
HP:0000479	Abnormal retinal morphology	9699	RIMS2	OMIM:618970
HP:0000479	Abnormal retinal morphology	6785	ELOVL4	ORPHA:827
HP:0000479	Abnormal retinal morphology	9371	KIF3B	OMIM:618955
HP:0000479	Abnormal retinal morphology	6533	SLC6A6	OMIM:145350
HP:0000479	Abnormal retinal morphology	2673	GFPT1	OMIM:610542
HP:0000479	Abnormal retinal morphology	1181	CLCN2	OMIM:615651
HP:0000479	Abnormal retinal morphology	71	ACTG1	ORPHA:2995
HP:0000479	Abnormal retinal morphology	60	ACTB	ORPHA:2995
HP:0000479	Abnormal retinal morphology	5959	RDH5	ORPHA:52427
HP:0000479	Abnormal retinal morphology	2615	LRRC32	OMIM:619074
HP:0000479	Abnormal retinal morphology	79803	HPS6	OMIM:614075
HP:0000479	Abnormal retinal morphology	23554	TSPAN12	ORPHA:891
HP:0000479	Abnormal retinal morphology	7078	TIMP3	ORPHA:59181
HP:0000479	Abnormal retinal morphology	10058	ABCB6	OMIM:614497
HP:0000479	Abnormal retinal morphology	51134	CEP83	OMIM:615862
HP:0000479	Abnormal retinal morphology	6492	SIM1	ORPHA:398079
HP:0000479	Abnormal retinal morphology	54551	MAGEL2	ORPHA:398069
HP:0000479	Abnormal retinal morphology	1638	DCT	OMIM:619165
HP:0000479	Abnormal retinal morphology	10166	SLC25A15	ORPHA:415
HP:0000479	Abnormal retinal morphology	125988	MICOS13	OMIM:618329
HP:0000479	Abnormal retinal morphology	114548	NLRP3	OMIM:148200
HP:0000479	Abnormal retinal morphology	6452	SH3BP2	OMIM:118400
HP:0000479	Abnormal retinal morphology	1804	DPP6	OMIM:616311
HP:0000479	Abnormal retinal morphology	170692	ADAMTS18	OMIM:615458
HP:0000479	Abnormal retinal morphology	6935	ZEB1	ORPHA:98973
HP:0000479	Abnormal retinal morphology	30813	VSX1	ORPHA:98973
HP:0000479	Abnormal retinal morphology	58495	OVOL2	ORPHA:98973
HP:0000479	Abnormal retinal morphology	79977	GRHL2	ORPHA:98973
HP:0000479	Abnormal retinal morphology	1296	COL8A2	ORPHA:98973
HP:0000479	Abnormal retinal morphology	51163	DBR1	OMIM:620510
HP:0000479	Abnormal retinal morphology	55901	THSD1	OMIM:620244
HP:0007939	Blue cone monochromacy	2652	OPN1MW	ORPHA:16
HP:0007939	Blue cone monochromacy	2652	OPN1MW	OMIM:303700
HP:0007939	Blue cone monochromacy	5956	OPN1LW	ORPHA:16
HP:0007939	Blue cone monochromacy	5956	OPN1LW	OMIM:303700
HP:0007941	Limited extraocular movements	347733	TUBB2B	OMIM:610031
HP:0007941	Limited extraocular movements	3295	HSD17B4	OMIM:233400
HP:0007941	Limited extraocular movements	9997	SCO2	OMIM:604377
HP:0007941	Limited extraocular movements	8292	COLQ	ORPHA:98915
HP:0007941	Limited extraocular movements	3913	LAMB2	ORPHA:98915
HP:0007941	Limited extraocular movements	203547	VMA21	OMIM:310440
HP:0007941	Limited extraocular movements	11261	CHP1	OMIM:618438
HP:0007941	Limited extraocular movements	84504	NKX6-2	OMIM:617560
HP:0007941	Limited extraocular movements	6843	VAMP1	OMIM:618323
HP:0007941	Limited extraocular movements	127833	SYT2	OMIM:619461
HP:0007941	Limited extraocular movements	55605	KIF21A	ORPHA:45358
HP:0007941	Limited extraocular movements	7846	TUBA1A	ORPHA:45358
HP:0007941	Limited extraocular movements	401	PHOX2A	ORPHA:45358
HP:0007941	Limited extraocular movements	10381	TUBB3	ORPHA:45358
HP:0007941	Limited extraocular movements	84570	COL25A1	ORPHA:45358
HP:0007942	Internal ophthalmoplegia	64072	CDH23	ORPHA:91347
HP:0007942	Internal ophthalmoplegia	64072	CDH23	ORPHA:2965
HP:0007942	Internal ophthalmoplegia	4221	MEN1	ORPHA:2965
HP:0007942	Internal ophthalmoplegia	9049	AIP	ORPHA:2965
HP:0007943	Congenital stapes ankylosis	9241	NOG	OMIM:184460
HP:0007944	Intermittent microsaccadic pursuits	339453	TMEM240	ORPHA:98773
HP:0007944	Intermittent microsaccadic pursuits	3752	KCND3	OMIM:607346
HP:0025520	Calcinosis cutis	5167	ENPP1	OMIM:615522
HP:0025520	Calcinosis cutis	189	AGXT	OMIM:259900
HP:0025520	Calcinosis cutis	54809	SAMD9	OMIM:610455
HP:0025520	Calcinosis cutis	3930	LBR	OMIM:613471
HP:0025523	Abnormal morphology of the chordae tendinae of the mitral valve	2294	FOXF1	OMIM:265380
HP:0025523	Abnormal morphology of the chordae tendinae of the mitral valve	9772	TMEM94	OMIM:618316
HP:0025523	Abnormal morphology of the chordae tendinae of the mitral valve	2316	FLNA	OMIM:314400
HP:0025523	Abnormal morphology of the chordae tendinae of the mitral valve	6197	RPS6KA3	ORPHA:192
HP:0025524	Palmoplantar scaling skin	7051	TGM1	ORPHA:281127
HP:0025524	Palmoplantar scaling skin	7051	TGM1	ORPHA:100976
HP:0025524	Palmoplantar scaling skin	1832	DSP	OMIM:605676
HP:0025524	Palmoplantar scaling skin	3848	KRT1	ORPHA:530838
HP:0025525	Scaling skin on fingertip	4014	LORICRIN	ORPHA:79395
HP:0025526	Psoriasiform lesion	3575	IL7R	ORPHA:169154
HP:0025526	Psoriasiform lesion	3939	LDHA	ORPHA:284426
HP:0025526	Psoriasiform lesion	987	LRBA	OMIM:614700
HP:0025526	Psoriasiform lesion	146206	CARMIL2	OMIM:618131
HP:0025526	Psoriasiform lesion	23586	RIGI	OMIM:616298
HP:0025528	Annular cutaneous lesion	3939	LDHA	ORPHA:284426
HP:0025528	Annular cutaneous lesion	51371	POMP	OMIM:618048
HP:0030820	Hooded eyelid	55553	SOX6	OMIM:618971
HP:0030820	Hooded eyelid	164	AP1G1	OMIM:619467
HP:0030820	Hooded eyelid	9578	CDC42BPB	OMIM:619841
HP:0030820	Hooded eyelid	9126	SMC3	OMIM:610759
HP:0030820	Hooded eyelid	57479	PRR12	OMIM:619539
HP:0030820	Hooded eyelid	9091	PIGQ	OMIM:618548
HP:0030820	Hooded eyelid	26834	RNU4-2	OMIM:620851
HP:0030820	Hooded eyelid	101929726	MYMX	OMIM:619941
HP:0030828	Wheezing	695	BTK	OMIM:300755
HP:0030828	Wheezing	5265	SERPINA1	OMIM:613490
HP:0030828	Wheezing	6340	SCNN1G	ORPHA:60033
HP:0030828	Wheezing	6340	SCNN1G	ORPHA:171876
HP:0030828	Wheezing	1080	CFTR	ORPHA:60033
HP:0030828	Wheezing	6337	SCNN1A	ORPHA:60033
HP:0030828	Wheezing	6337	SCNN1A	ORPHA:171876
HP:0030828	Wheezing	6338	SCNN1B	ORPHA:60033
HP:0030828	Wheezing	6338	SCNN1B	ORPHA:171876
HP:0030828	Wheezing	25981	DNAH1	OMIM:617577
HP:0030828	Wheezing	25981	DNAH1	ORPHA:244
HP:0030828	Wheezing	5557	PRIM1	OMIM:620005
HP:0030828	Wheezing	5205	ATP8B1	OMIM:211600
HP:0030828	Wheezing	115948	ODAD3	ORPHA:244
HP:0030828	Wheezing	54768	HYDIN	ORPHA:244
HP:0030828	Wheezing	352909	DNAAF3	ORPHA:244
HP:0030828	Wheezing	27148	STK36	ORPHA:244
HP:0030828	Wheezing	51314	NME8	ORPHA:244
HP:0030828	Wheezing	92749	DRC1	ORPHA:244
HP:0030828	Wheezing	54970	TTC12	ORPHA:244
HP:0030828	Wheezing	152110	NEK10	ORPHA:244
HP:0030828	Wheezing	8481	OFD1	ORPHA:244
HP:0030828	Wheezing	2302	FOXJ1	ORPHA:244
HP:0030828	Wheezing	221421	RSPH9	ORPHA:244
HP:0030828	Wheezing	85478	CCDC65	ORPHA:244
HP:0030828	Wheezing	55036	CCDC40	ORPHA:244
HP:0030828	Wheezing	55036	CCDC40	OMIM:613808
HP:0030828	Wheezing	51364	ZMYND10	ORPHA:244
HP:0030828	Wheezing	64446	DNAI2	ORPHA:244
HP:0030828	Wheezing	8382	NME5	ORPHA:244
HP:0030828	Wheezing	6674	SPAG1	ORPHA:244
HP:0030828	Wheezing	83544	DNAL1	ORPHA:244
HP:0030828	Wheezing	89765	RSPH1	ORPHA:244
HP:0030828	Wheezing	83538	ODAD4	ORPHA:244
HP:0030828	Wheezing	200373	CFAP221	ORPHA:244
HP:0030828	Wheezing	374407	DNAJB13	ORPHA:244
HP:0030828	Wheezing	55172	DNAAF2	ORPHA:244
HP:0030828	Wheezing	161582	DNAAF4	ORPHA:244
HP:0030828	Wheezing	2622	GAS8	ORPHA:244
HP:0030828	Wheezing	23639	DNAAF11	ORPHA:244
HP:0030828	Wheezing	27019	DNAI1	ORPHA:244
HP:0030828	Wheezing	345895	RSPH4A	ORPHA:244
HP:0030828	Wheezing	54919	DNAAF5	ORPHA:244
HP:0030828	Wheezing	6103	RPGR	ORPHA:244
HP:0030828	Wheezing	85452	CFAP74	ORPHA:244
HP:0030828	Wheezing	93233	ODAD1	ORPHA:244
HP:0030828	Wheezing	55130	ODAD2	ORPHA:244
HP:0030828	Wheezing	1767	DNAH5	ORPHA:244
HP:0030828	Wheezing	83861	RSPH3	ORPHA:244
HP:0030828	Wheezing	345643	MCIDAS	ORPHA:244
HP:0030828	Wheezing	56683	CFAP298	ORPHA:244
HP:0030828	Wheezing	79925	SPEF2	ORPHA:244
HP:0030828	Wheezing	10309	CCNO	ORPHA:244
HP:0030828	Wheezing	115399	LRRC56	ORPHA:244
HP:0030828	Wheezing	139212	DNAAF6	ORPHA:244
HP:0030828	Wheezing	123872	DNAAF1	ORPHA:244
HP:0030828	Wheezing	85016	CFAP300	ORPHA:244
HP:0030828	Wheezing	339829	CCDC39	ORPHA:244
HP:0030828	Wheezing	339829	CCDC39	OMIM:613807
HP:0030828	Wheezing	8701	DNAH11	ORPHA:244
HP:0030828	Wheezing	1770	DNAH9	ORPHA:244
HP:0030828	Wheezing	246176	GAS2L2	ORPHA:244
HP:0030828	Wheezing	2214	FCGR3A	OMIM:615707
HP:0030828	Wheezing	10551	AGR2	OMIM:620233
HP:0030828	Wheezing	3119	HLA-DQB1	ORPHA:930
HP:0030828	Wheezing	9244	CRLF1	ORPHA:930
HP:0030828	Wheezing	3117	HLA-DQA1	ORPHA:930
HP:0030828	Wheezing	4842	NOS1	ORPHA:930
HP:0030828	Wheezing	7080	NKX2-1	OMIM:610978
HP:0030829	Abnormal breath sound	3835	KIF22	ORPHA:93360
HP:0030829	Abnormal breath sound	11340	EXOSC8	ORPHA:2254
HP:0030829	Abnormal breath sound	5393	EXOSC9	ORPHA:2254
HP:0030829	Abnormal breath sound	23287	AGTPBP1	ORPHA:2254
HP:0030829	Abnormal breath sound	51010	EXOSC3	ORPHA:2254
HP:0030829	Abnormal breath sound	7443	VRK1	ORPHA:2254
HP:0030829	Abnormal breath sound	91137	SLC25A46	ORPHA:2254
HP:0030829	Abnormal breath sound	5354	PLP1	OMIM:312080
HP:0030829	Abnormal breath sound	23114	NFASC	OMIM:618356
HP:0030829	Abnormal breath sound	406932	MIR140	OMIM:618618
HP:0030829	Abnormal breath sound	728294	D2HGDH	OMIM:600721
HP:0030829	Abnormal breath sound	710	SERPING1	ORPHA:100050
HP:0030829	Abnormal breath sound	3508	IGHMBP2	OMIM:604320
HP:0030829	Abnormal breath sound	79158	GNPTAB	ORPHA:576
HP:0030829	Abnormal breath sound	9997	SCO2	OMIM:604377
HP:0030829	Abnormal breath sound	4784	NFIX	OMIM:602535
HP:0030829	Abnormal breath sound	2316	FLNA	OMIM:305620
HP:0030829	Abnormal breath sound	65082	VPS33A	ORPHA:505248
HP:0030829	Abnormal breath sound	57128	LYRM4	OMIM:615595
HP:0030829	Abnormal breath sound	182	JAG1	OMIM:619574
HP:0030829	Abnormal breath sound	59341	TRPV4	OMIM:606071
HP:0030829	Abnormal breath sound	59341	TRPV4	OMIM:181405
HP:0030829	Abnormal breath sound	6885	MAP3K7	OMIM:617137
HP:0030829	Abnormal breath sound	775	CACNA1C	OMIM:620029
HP:0030829	Abnormal breath sound	6329	SCN4A	OMIM:608390
HP:0030829	Abnormal breath sound	6329	SCN4A	ORPHA:99734
HP:0030829	Abnormal breath sound	27235	COQ2	ORPHA:227510
HP:0030829	Abnormal breath sound	27235	COQ2	ORPHA:98933
HP:0030829	Abnormal breath sound	6571	SLC18A2	ORPHA:352649
HP:0030829	Abnormal breath sound	3909	LAMA3	ORPHA:79404
HP:0030829	Abnormal breath sound	3918	LAMC2	ORPHA:79404
HP:0030829	Abnormal breath sound	3914	LAMB3	ORPHA:79404
HP:0030829	Abnormal breath sound	1513	CTSK	ORPHA:763
HP:0030829	Abnormal breath sound	7849	PAX8	OMIM:218700
HP:0030829	Abnormal breath sound	7259	TSPYL1	OMIM:608800
HP:0030829	Abnormal breath sound	2629	GBA1	OMIM:230900
HP:0030829	Abnormal breath sound	2629	GBA1	ORPHA:77260
HP:0030829	Abnormal breath sound	60482	SLC5A7	OMIM:617143
HP:0030829	Abnormal breath sound	60482	SLC5A7	ORPHA:98914
HP:0030829	Abnormal breath sound	6576	SLC25A1	OMIM:615182
HP:0030829	Abnormal breath sound	6576	SLC25A1	ORPHA:98914
HP:0030829	Abnormal breath sound	91179	SCARF2	OMIM:600920
HP:0030829	Abnormal breath sound	667	DST	OMIM:614653
HP:0030829	Abnormal breath sound	4281	MID1	ORPHA:2745
HP:0030829	Abnormal breath sound	2782	GNB1	OMIM:616973
HP:0030829	Abnormal breath sound	6662	SOX9	ORPHA:718
HP:0030829	Abnormal breath sound	6662	SOX9	OMIM:114290
HP:0030829	Abnormal breath sound	4649	MYO9A	ORPHA:98914
HP:0030829	Abnormal breath sound	1305	COL13A1	ORPHA:98914
HP:0030829	Abnormal breath sound	1103	CHAT	ORPHA:98914
HP:0030829	Abnormal breath sound	6843	VAMP1	ORPHA:98914
HP:0030829	Abnormal breath sound	375790	AGRN	ORPHA:98914
HP:0030829	Abnormal breath sound	127833	SYT2	ORPHA:98914
HP:0030829	Abnormal breath sound	6572	SLC18A3	ORPHA:98914
HP:0030829	Abnormal breath sound	6616	SNAP25	ORPHA:98914
HP:0030829	Abnormal breath sound	113278	SLC52A3	OMIM:211530
HP:0030829	Abnormal breath sound	84705	GTPBP3	ORPHA:444013
HP:0030829	Abnormal breath sound	695	BTK	OMIM:300755
HP:0030829	Abnormal breath sound	5265	SERPINA1	OMIM:613490
HP:0030829	Abnormal breath sound	6340	SCNN1G	ORPHA:60033
HP:0030829	Abnormal breath sound	6340	SCNN1G	ORPHA:171876
HP:0030829	Abnormal breath sound	1080	CFTR	ORPHA:60033
HP:0030829	Abnormal breath sound	6337	SCNN1A	ORPHA:60033
HP:0030829	Abnormal breath sound	6337	SCNN1A	ORPHA:171876
HP:0030829	Abnormal breath sound	6338	SCNN1B	ORPHA:60033
HP:0030829	Abnormal breath sound	6338	SCNN1B	ORPHA:171876
HP:0030829	Abnormal breath sound	25981	DNAH1	OMIM:617577
HP:0030829	Abnormal breath sound	25981	DNAH1	ORPHA:244
HP:0030829	Abnormal breath sound	5557	PRIM1	OMIM:620005
HP:0030829	Abnormal breath sound	5205	ATP8B1	OMIM:211600
HP:0030829	Abnormal breath sound	115948	ODAD3	ORPHA:244
HP:0030829	Abnormal breath sound	54768	HYDIN	ORPHA:244
HP:0030829	Abnormal breath sound	352909	DNAAF3	ORPHA:244
HP:0030829	Abnormal breath sound	27148	STK36	ORPHA:244
HP:0030829	Abnormal breath sound	51314	NME8	ORPHA:244
HP:0030829	Abnormal breath sound	92749	DRC1	ORPHA:244
HP:0030829	Abnormal breath sound	54970	TTC12	ORPHA:244
HP:0030829	Abnormal breath sound	152110	NEK10	ORPHA:244
HP:0030829	Abnormal breath sound	8481	OFD1	ORPHA:244
HP:0030829	Abnormal breath sound	2302	FOXJ1	ORPHA:244
HP:0030829	Abnormal breath sound	221421	RSPH9	ORPHA:244
HP:0030829	Abnormal breath sound	85478	CCDC65	ORPHA:244
HP:0030829	Abnormal breath sound	55036	CCDC40	ORPHA:244
HP:0030829	Abnormal breath sound	55036	CCDC40	OMIM:613808
HP:0030829	Abnormal breath sound	51364	ZMYND10	ORPHA:244
HP:0030829	Abnormal breath sound	64446	DNAI2	ORPHA:244
HP:0030829	Abnormal breath sound	8382	NME5	ORPHA:244
HP:0030829	Abnormal breath sound	6674	SPAG1	ORPHA:244
HP:0030829	Abnormal breath sound	83544	DNAL1	ORPHA:244
HP:0030829	Abnormal breath sound	89765	RSPH1	ORPHA:244
HP:0030829	Abnormal breath sound	83538	ODAD4	ORPHA:244
HP:0030829	Abnormal breath sound	200373	CFAP221	ORPHA:244
HP:0030829	Abnormal breath sound	374407	DNAJB13	ORPHA:244
HP:0030829	Abnormal breath sound	55172	DNAAF2	ORPHA:244
HP:0030829	Abnormal breath sound	161582	DNAAF4	ORPHA:244
HP:0030829	Abnormal breath sound	2622	GAS8	ORPHA:244
HP:0030829	Abnormal breath sound	23639	DNAAF11	ORPHA:244
HP:0030829	Abnormal breath sound	27019	DNAI1	ORPHA:244
HP:0030829	Abnormal breath sound	345895	RSPH4A	ORPHA:244
HP:0030829	Abnormal breath sound	54919	DNAAF5	ORPHA:244
HP:0030829	Abnormal breath sound	6103	RPGR	ORPHA:244
HP:0030829	Abnormal breath sound	85452	CFAP74	ORPHA:244
HP:0030829	Abnormal breath sound	93233	ODAD1	ORPHA:244
HP:0030829	Abnormal breath sound	55130	ODAD2	ORPHA:244
HP:0030829	Abnormal breath sound	1767	DNAH5	ORPHA:244
HP:0030829	Abnormal breath sound	83861	RSPH3	ORPHA:244
HP:0030829	Abnormal breath sound	345643	MCIDAS	ORPHA:244
HP:0030829	Abnormal breath sound	56683	CFAP298	ORPHA:244
HP:0030829	Abnormal breath sound	79925	SPEF2	ORPHA:244
HP:0030829	Abnormal breath sound	10309	CCNO	ORPHA:244
HP:0030829	Abnormal breath sound	115399	LRRC56	ORPHA:244
HP:0030829	Abnormal breath sound	139212	DNAAF6	ORPHA:244
HP:0030829	Abnormal breath sound	123872	DNAAF1	ORPHA:244
HP:0030829	Abnormal breath sound	85016	CFAP300	ORPHA:244
HP:0030829	Abnormal breath sound	339829	CCDC39	ORPHA:244
HP:0030829	Abnormal breath sound	339829	CCDC39	OMIM:613807
HP:0030829	Abnormal breath sound	8701	DNAH11	ORPHA:244
HP:0030829	Abnormal breath sound	1770	DNAH9	ORPHA:244
HP:0030829	Abnormal breath sound	246176	GAS2L2	ORPHA:244
HP:0030829	Abnormal breath sound	2214	FCGR3A	OMIM:615707
HP:0030829	Abnormal breath sound	10551	AGR2	OMIM:620233
HP:0030829	Abnormal breath sound	3119	HLA-DQB1	ORPHA:930
HP:0030829	Abnormal breath sound	9244	CRLF1	ORPHA:930
HP:0030829	Abnormal breath sound	3117	HLA-DQA1	ORPHA:930
HP:0030829	Abnormal breath sound	4842	NOS1	ORPHA:930
HP:0030829	Abnormal breath sound	7080	NKX2-1	OMIM:610978
HP:0030829	Abnormal breath sound	1439	CSF2RB	ORPHA:264675
HP:0030829	Abnormal breath sound	1438	CSF2RA	ORPHA:264675
HP:0030829	Abnormal breath sound	653509	SFTPA1	OMIM:619611
HP:0030829	Abnormal breath sound	653509	SFTPA1	ORPHA:2032
HP:0030829	Abnormal breath sound	7015	TERT	OMIM:614742
HP:0030829	Abnormal breath sound	7015	TERT	ORPHA:2032
HP:0030829	Abnormal breath sound	6440	SFTPC	ORPHA:2032
HP:0030829	Abnormal breath sound	729238	SFTPA2	ORPHA:2032
HP:0030829	Abnormal breath sound	79991	STN1	ORPHA:2032
HP:0030829	Abnormal breath sound	21	ABCA3	ORPHA:2032
HP:0030829	Abnormal breath sound	1832	DSP	ORPHA:2032
HP:0030829	Abnormal breath sound	727897	MUC5B	ORPHA:2032
HP:0030829	Abnormal breath sound	10144	FAM13A	ORPHA:2032
HP:0030829	Abnormal breath sound	23250	ATP11A	ORPHA:2032
HP:0030829	Abnormal breath sound	91039	DPP9	ORPHA:2032
HP:0030829	Abnormal breath sound	51750	RTEL1	ORPHA:2032
HP:0030829	Abnormal breath sound	7012	TERC	ORPHA:2032
HP:0030829	Abnormal breath sound	5073	PARN	ORPHA:2032
HP:0030829	Abnormal breath sound	3123	HLA-DRB1	ORPHA:747
HP:0030829	Abnormal breath sound	6261	RYR1	ORPHA:466650
HP:0030829	Abnormal breath sound	25913	POT1	OMIM:620367
HP:0030825	Absent foveal reflex	778	CACNA1F	OMIM:300476
HP:0030825	Absent foveal reflex	22926	ATF6	ORPHA:49382
HP:0030825	Absent foveal reflex	22926	ATF6	OMIM:616517
HP:0030825	Absent foveal reflex	5146	PDE6C	ORPHA:49382
HP:0030825	Absent foveal reflex	5146	PDE6C	OMIM:613093
HP:0030825	Absent foveal reflex	6103	RPGR	ORPHA:49382
HP:0030825	Absent foveal reflex	5149	PDE6H	ORPHA:49382
HP:0030825	Absent foveal reflex	2780	GNAT2	ORPHA:49382
HP:0030825	Absent foveal reflex	1261	CNGA3	ORPHA:49382
HP:0030825	Absent foveal reflex	1261	CNGA3	OMIM:216900
HP:0030825	Absent foveal reflex	54714	CNGB3	ORPHA:49382
HP:0030825	Absent foveal reflex	5961	PRPH2	ORPHA:52427
HP:0030825	Absent foveal reflex	5961	PRPH2	OMIM:169150
HP:0030825	Absent foveal reflex	6017	RLBP1	ORPHA:52427
HP:0030825	Absent foveal reflex	6010	RHO	ORPHA:52427
HP:0030825	Absent foveal reflex	5959	RDH5	ORPHA:52427
HP:0030825	Absent foveal reflex	6247	RS1	ORPHA:792
HP:0030825	Absent foveal reflex	83723	TLCD3B	OMIM:619531
HP:0030825	Absent foveal reflex	8481	OFD1	OMIM:300424
HP:0030825	Absent foveal reflex	79803	HPS6	OMIM:614075
HP:0030825	Absent foveal reflex	5148	PDE6G	OMIM:613582
HP:0030825	Absent foveal reflex	6121	RPE65	OMIM:204100
HP:0030825	Absent foveal reflex	5950	RBP4	OMIM:615147
HP:0030825	Absent foveal reflex	57096	RPGRIP1	OMIM:613826
HP:0030824	Mizuo phenomenon	6011	GRK1	OMIM:613411
HP:0030824	Mizuo phenomenon	6011	GRK1	ORPHA:75382
HP:0030824	Mizuo phenomenon	6295	SAG	ORPHA:75382
HP:0030824	Mizuo phenomenon	6295	SAG	OMIM:258100
HP:0030824	Mizuo phenomenon	6247	RS1	ORPHA:792
HP:0030824	Mizuo phenomenon	6247	RS1	OMIM:312700
HP:0030823	Scleral thickening	3423	IDS	ORPHA:217085
HP:0030823	Scleral thickening	3423	IDS	ORPHA:217093
HP:0030823	Scleral thickening	646960	PRSS56	OMIM:613517
HP:0030823	Scleral thickening	83552	MFRP	OMIM:611040
HP:0030822	Hooded upper eyelid	57479	PRR12	OMIM:619539
HP:0030822	Hooded upper eyelid	9091	PIGQ	OMIM:618548
HP:0030822	Hooded upper eyelid	26834	RNU4-2	OMIM:620851
HP:0030822	Hooded upper eyelid	101929726	MYMX	OMIM:619941
HP:0007946	Unilateral narrow palpebral fissure	387	RHOA	OMIM:618727
HP:0007946	Unilateral narrow palpebral fissure	79718	TBL1XR1	OMIM:602342
HP:0007946	Unilateral narrow palpebral fissure	6595	SMARCA2	OMIM:601358
HP:0007948	Dense posterior cortical cataract	4952	OCRL	OMIM:309000
HP:0200056	Macular scar	4982	TNFRSF11B	OMIM:239000
HP:0200056	Macular scar	3105	HLA-A	ORPHA:179
HP:0200056	Macular scar	3426	CFI	OMIM:615439
HP:0200056	Macular scar	6452	SH3BP2	OMIM:118400
HP:0200056	Macular scar	64802	NMNAT1	OMIM:608553
HP:0007950	Peripapillary chorioretinal atrophy	4901	NRL	OMIM:613750
HP:0007950	Peripapillary chorioretinal atrophy	2202	EFEMP1	ORPHA:75376
HP:0007950	Peripapillary chorioretinal atrophy	3075	CFH	ORPHA:75376
HP:0007950	Peripapillary chorioretinal atrophy	3426	CFI	ORPHA:75376
HP:0007950	Peripapillary chorioretinal atrophy	7003	TEAD1	OMIM:108985
HP:0008043	Retinal arteriolar constriction	7287	TULP1	OMIM:600132
HP:0008043	Retinal arteriolar constriction	9129	PRPF3	OMIM:601414
HP:0008043	Retinal arteriolar constriction	7439	BEST1	OMIM:193220
HP:0008043	Retinal arteriolar constriction	57096	RPGRIP1	OMIM:613826
HP:0025530	Xanthomas of the palmar creases	348	APOE	ORPHA:412
HP:0025532	Positive pathergy test	149233	IL23R	ORPHA:117
HP:0025532	Positive pathergy test	6775	STAT4	ORPHA:117
HP:0025532	Positive pathergy test	3586	IL10	ORPHA:117
HP:0025532	Positive pathergy test	4210	MEFV	ORPHA:117
HP:0025532	Positive pathergy test	1230	CCR1	ORPHA:117
HP:0025532	Positive pathergy test	355	FAS	ORPHA:117
HP:0025532	Positive pathergy test	3592	IL12A	ORPHA:117
HP:0025532	Positive pathergy test	101928376	IL12A-AS1	ORPHA:117
HP:0025532	Positive pathergy test	3106	HLA-B	ORPHA:117
HP:0025532	Positive pathergy test	7099	TLR4	ORPHA:117
HP:0025532	Positive pathergy test	3459	IFNGR1	ORPHA:117
HP:0025532	Positive pathergy test	720	C4A	ORPHA:117
HP:0025532	Positive pathergy test	337867	UBAC2	ORPHA:117
HP:0025532	Positive pathergy test	51752	ERAP1	ORPHA:117
HP:0025532	Positive pathergy test	8302	KLRC4	ORPHA:117
HP:0025533	Peau d'orange	57511	COG6	OMIM:614576
HP:0025533	Peau d'orange	368	ABCC6	OMIM:177850
HP:0025533	Peau d'orange	3815	KIT	ORPHA:79455
HP:0025534	Ocular melanocytosis	1798	DPAGT1	ORPHA:86309
HP:0010051	Deviation of the hallux	7291	TWIST1	ORPHA:794
HP:0010051	Deviation of the hallux	7291	TWIST1	OMIM:101400
HP:0010051	Deviation of the hallux	7291	TWIST1	OMIM:180750
HP:0010051	Deviation of the hallux	2263	FGFR2	ORPHA:794
HP:0010051	Deviation of the hallux	2263	FGFR2	OMIM:101400
HP:0010051	Deviation of the hallux	2261	FGFR3	ORPHA:794
HP:0010051	Deviation of the hallux	658	BMPR1B	OMIM:112600
HP:0010051	Deviation of the hallux	650	BMP2	OMIM:112600
HP:0010051	Deviation of the hallux	8200	GDF5	OMIM:112600
HP:0010051	Deviation of the hallux	7528	YY1	ORPHA:506358
HP:0010051	Deviation of the hallux	7528	YY1	OMIM:617557
HP:0010051	Deviation of the hallux	10262	SF3B4	OMIM:154400
HP:0010051	Deviation of the hallux	8294	H4C9	OMIM:619951
HP:0010051	Deviation of the hallux	3590	IL11RA	OMIM:614188
HP:0010051	Deviation of the hallux	1859	DYRK1A	ORPHA:268261
HP:0010051	Deviation of the hallux	1859	DYRK1A	OMIM:614104
HP:0010051	Deviation of the hallux	25923	ATL3	OMIM:615632
HP:0010051	Deviation of the hallux	6938	TCF12	OMIM:615314
HP:0010051	Deviation of the hallux	8239	USP9X	ORPHA:480880
HP:0010051	Deviation of the hallux	6804	STX1A	ORPHA:904
HP:0010051	Deviation of the hallux	7461	CLIP2	ORPHA:904
HP:0010051	Deviation of the hallux	84277	DNAJC30	ORPHA:904
HP:0010051	Deviation of the hallux	8468	FKBP6	ORPHA:904
HP:0010051	Deviation of the hallux	5982	RFC2	ORPHA:904
HP:0010051	Deviation of the hallux	2969	GTF2I	ORPHA:904
HP:0010051	Deviation of the hallux	3984	LIMK1	ORPHA:904
HP:0010051	Deviation of the hallux	9569	GTF2IRD1	ORPHA:904
HP:0010051	Deviation of the hallux	155382	VPS37D	ORPHA:904
HP:0010051	Deviation of the hallux	155368	METTL27	ORPHA:904
HP:0010051	Deviation of the hallux	114049	BUD23	ORPHA:904
HP:0010051	Deviation of the hallux	7458	EIF4H	ORPHA:904
HP:0010051	Deviation of the hallux	84163	GTF2IRD2	ORPHA:904
HP:0010051	Deviation of the hallux	26608	TBL2	ORPHA:904
HP:0010051	Deviation of the hallux	653361	NCF1	ORPHA:904
HP:0010051	Deviation of the hallux	135886	TMEM270	ORPHA:904
HP:0010051	Deviation of the hallux	9031	BAZ1B	ORPHA:904
HP:0010051	Deviation of the hallux	2006	ELN	ORPHA:904
HP:0010051	Deviation of the hallux	2006	ELN	OMIM:194050
HP:0010051	Deviation of the hallux	57122	NUP107	OMIM:618348
HP:0010051	Deviation of the hallux	5927	KDM5A	OMIM:620820
HP:0010051	Deviation of the hallux	10283	CWC27	OMIM:250410
HP:0010051	Deviation of the hallux	10283	CWC27	ORPHA:166035
HP:0010051	Deviation of the hallux	207	AKT1	ORPHA:744
HP:0010051	Deviation of the hallux	55027	HEATR3	OMIM:620072
HP:0010051	Deviation of the hallux	9839	ZEB2	ORPHA:261537
HP:0010051	Deviation of the hallux	9839	ZEB2	ORPHA:261552
HP:0010051	Deviation of the hallux	79759	ZNF668	OMIM:620194
HP:0010051	Deviation of the hallux	55315	SLC29A3	OMIM:602782
HP:0010051	Deviation of the hallux	55315	SLC29A3	ORPHA:168569
HP:0010051	Deviation of the hallux	2077	ERF	OMIM:617180
HP:0010051	Deviation of the hallux	6567	SLC16A2	OMIM:300523
HP:0010051	Deviation of the hallux	91179	SCARF2	OMIM:600920
HP:0010051	Deviation of the hallux	4841	NONO	OMIM:300967
HP:0010051	Deviation of the hallux	4841	NONO	ORPHA:466791
HP:0010051	Deviation of the hallux	1278	COL1A2	ORPHA:230851
HP:0010051	Deviation of the hallux	1278	COL1A2	OMIM:617821
HP:0010051	Deviation of the hallux	56098	PCDHGC4	OMIM:619880
HP:0010051	Deviation of the hallux	83737	ITCH	OMIM:613385
HP:0010051	Deviation of the hallux	4621	MYH3	OMIM:618436
HP:0010051	Deviation of the hallux	6662	SOX9	OMIM:114290
HP:0010051	Deviation of the hallux	57466	SCAF4	OMIM:620511
HP:0010051	Deviation of the hallux	55780	ERMARD	ORPHA:75857
HP:0010051	Deviation of the hallux	51085	MLXIPL	OMIM:194050
HP:0010051	Deviation of the hallux	2273	FHL1	OMIM:300280
HP:0010051	Deviation of the hallux	11107	PRDM5	ORPHA:90354
HP:0010051	Deviation of the hallux	84627	ZNF469	ORPHA:90354
HP:0010051	Deviation of the hallux	5932	RBBP8	OMIM:251255
HP:0010051	Deviation of the hallux	90	ACVR1	ORPHA:337
HP:0010051	Deviation of the hallux	90	ACVR1	OMIM:135100
HP:0010051	Deviation of the hallux	126792	B3GALT6	OMIM:271640
HP:0010051	Deviation of the hallux	126792	B3GALT6	ORPHA:536467
HP:0010051	Deviation of the hallux	8626	TP63	OMIM:603543
HP:0010051	Deviation of the hallux	4784	NFIX	OMIM:602535
HP:0010051	Deviation of the hallux	2629	GBA1	ORPHA:2072
HP:0010051	Deviation of the hallux	165	AEBP1	OMIM:618000
HP:0010051	Deviation of the hallux	165	AEBP1	ORPHA:536532
HP:0010051	Deviation of the hallux	6709	SPTAN1	OMIM:620528
HP:0010051	Deviation of the hallux	7874	USP7	OMIM:616863
HP:0010051	Deviation of the hallux	5831	PYCR1	OMIM:612940
HP:0010051	Deviation of the hallux	9469	CHST3	OMIM:245600
HP:0010051	Deviation of the hallux	26229	B3GAT3	OMIM:245600
HP:0010051	Deviation of the hallux	6595	SMARCA2	OMIM:601358
HP:0010051	Deviation of the hallux	6792	CDKL5	ORPHA:505652
HP:0010051	Deviation of the hallux	1277	COL1A1	OMIM:130060
HP:0010051	Deviation of the hallux	23102	TBC1D2B	ORPHA:397973
HP:0010051	Deviation of the hallux	80185	TTI2	OMIM:615541
HP:0010051	Deviation of the hallux	7543	ZFX	OMIM:301118
HP:0010051	Deviation of the hallux	57178	ZMIZ1	OMIM:618659
HP:0010051	Deviation of the hallux	79813	EHMT1	OMIM:610253
HP:0010051	Deviation of the hallux	6736	SRY	ORPHA:1772
HP:0010051	Deviation of the hallux	3239	HOXD13	ORPHA:93409
HP:0010051	Deviation of the hallux	526	ATP6V1B2	ORPHA:3473
HP:0010051	Deviation of the hallux	3756	KCNH1	ORPHA:3473
HP:0010051	Deviation of the hallux	3782	KCNN3	ORPHA:3473
HP:0010051	Deviation of the hallux	5696	PSMB8	OMIM:256040
HP:0010051	Deviation of the hallux	2254	FGF9	OMIM:612961
HP:0010051	Deviation of the hallux	2260	FGFR1	OMIM:123150
HP:0010051	Deviation of the hallux	2260	FGFR1	ORPHA:93258
HP:0010051	Deviation of the hallux	3209	HOXA13	OMIM:140000
HP:0010051	Deviation of the hallux	3209	HOXA13	ORPHA:2438
HP:0010051	Deviation of the hallux	50515	CHST11	OMIM:618167
HP:0010051	Deviation of the hallux	1387	CREBBP	ORPHA:353277
HP:0010051	Deviation of the hallux	7994	KAT6A	OMIM:616268
HP:0010051	Deviation of the hallux	2033	EP300	ORPHA:353284
HP:0010051	Deviation of the hallux	26005	C2CD3	ORPHA:434179
HP:0004704	Short fifth metatarsal	54101	RIPK4	ORPHA:1401
HP:0004704	Short fifth metatarsal	3239	HOXD13	ORPHA:93409
HP:0004704	Short fifth metatarsal	6925	TCF4	OMIM:610954
HP:0004704	Short fifth metatarsal	9578	CDC42BPB	OMIM:619841
HP:0004704	Short fifth metatarsal	90459	ERI1	OMIM:620662
HP:0004704	Short fifth metatarsal	2778	GNAS	ORPHA:79443
HP:0004704	Short fifth metatarsal	2778	GNAS	ORPHA:79444
HP:0004704	Short fifth metatarsal	23288	IQCE	OMIM:617642
HP:0004704	Short fifth metatarsal	341208	HEPHL1	OMIM:261990
HP:0010621	Cutaneous syndactyly of toes	1717	DHCR7	OMIM:270400
HP:0010621	Cutaneous syndactyly of toes	4204	MECP2	OMIM:300260
HP:0010621	Cutaneous syndactyly of toes	54880	BCOR	OMIM:300166
HP:0010621	Cutaneous syndactyly of toes	8295	TRRAP	OMIM:618454
HP:0010621	Cutaneous syndactyly of toes	91179	SCARF2	OMIM:600920
HP:0010621	Cutaneous syndactyly of toes	23288	IQCE	OMIM:617642
HP:0010621	Cutaneous syndactyly of toes	5587	PRKD1	OMIM:617364
HP:0010621	Cutaneous syndactyly of toes	81607	NECTIN4	OMIM:613573
HP:0010621	Cutaneous syndactyly of toes	55784	MCTP2	ORPHA:1596
HP:0010621	Cutaneous syndactyly of toes	23261	CAMTA1	OMIM:614756
HP:0010621	Cutaneous syndactyly of toes	775	CACNA1C	OMIM:620029
HP:0010621	Cutaneous syndactyly of toes	8823	FGF16	OMIM:309630
HP:0010621	Cutaneous syndactyly of toes	64093	SMOC1	OMIM:206920
HP:0010621	Cutaneous syndactyly of toes	253738	EBF3	ORPHA:96148
HP:0010621	Cutaneous syndactyly of toes	10522	DEAF1	OMIM:615828
HP:0010621	Cutaneous syndactyly of toes	8626	TP63	OMIM:129400
HP:0010621	Cutaneous syndactyly of toes	10079	ATP9A	OMIM:620242
HP:0010621	Cutaneous syndactyly of toes	2556	GABRA3	OMIM:301091
HP:0010621	Cutaneous syndactyly of toes	6309	SC5D	OMIM:607330
HP:0010621	Cutaneous syndactyly of toes	51776	MAP3K20	ORPHA:488232
HP:0010621	Cutaneous syndactyly of toes	374969	SVBP	OMIM:618569
HP:0010621	Cutaneous syndactyly of toes	1859	DYRK1A	ORPHA:268261
HP:0010621	Cutaneous syndactyly of toes	2697	GJA1	OMIM:257850
HP:0010621	Cutaneous syndactyly of toes	4626	MYH8	OMIM:158300
HP:0010621	Cutaneous syndactyly of toes	6134	RPL10	OMIM:300998
HP:0010621	Cutaneous syndactyly of toes	1387	CREBBP	OMIM:618332
HP:0010621	Cutaneous syndactyly of toes	2033	EP300	OMIM:618333
HP:0010621	Cutaneous syndactyly of toes	5818	NECTIN1	OMIM:225060
HP:0010621	Cutaneous syndactyly of toes	2254	FGF9	OMIM:612961
HP:0010621	Cutaneous syndactyly of toes	9241	NOG	OMIM:611377
HP:0010621	Cutaneous syndactyly of toes	2737	GLI3	OMIM:174200
HP:0010621	Cutaneous syndactyly of toes	79633	FAT4	OMIM:615546
HP:0010621	Cutaneous syndactyly of toes	64116	SLC39A8	ORPHA:468699
HP:0010621	Cutaneous syndactyly of toes	56916	SMARCAD1	OMIM:129200
HP:0010621	Cutaneous syndactyly of toes	2263	FGFR2	OMIM:101200
HP:0010621	Cutaneous syndactyly of toes	2260	FGFR1	OMIM:101600
HP:0009779	3-4 toe syndactyly	92002	CCNQ	OMIM:300707
HP:0009779	3-4 toe syndactyly	1001	CDH3	OMIM:225280
HP:0009779	3-4 toe syndactyly	387	RHOA	OMIM:618727
HP:0009779	3-4 toe syndactyly	6299	SALL1	OMIM:107480
HP:0009779	3-4 toe syndactyly	3239	HOXD13	OMIM:186300
HP:0009779	3-4 toe syndactyly	2697	GJA1	OMIM:164200
HP:0009779	3-4 toe syndactyly	6608	SMO	OMIM:601707
HP:0010068	Broad first metatarsal	2263	FGFR2	OMIM:123150
HP:0010068	Broad first metatarsal	2260	FGFR1	OMIM:123150
HP:0010068	Broad first metatarsal	79989	IFT56	OMIM:619534
HP:0010068	Broad first metatarsal	4750	NEK1	ORPHA:2751
HP:0010068	Broad first metatarsal	124583	CANT1	OMIM:251450
HP:0010068	Broad first metatarsal	10060	ABCC9	OMIM:239850
HP:0025539	Abnormal B cell subset distribution	1503	CTPS1	OMIM:615897
HP:0025539	Abnormal B cell subset distribution	2000	ELF4	OMIM:301074
HP:0025539	Abnormal B cell subset distribution	3551	IKBKB	OMIM:618204
HP:0025539	Abnormal B cell subset distribution	9138	ARHGEF1	OMIM:618459
HP:0025539	Abnormal B cell subset distribution	10043	TOM1	OMIM:619510
HP:0025539	Abnormal B cell subset distribution	51371	POMP	OMIM:618048
HP:0025539	Abnormal B cell subset distribution	3431	SP110	ORPHA:79124
HP:0025539	Abnormal B cell subset distribution	60468	BACH2	OMIM:618394
HP:0025539	Abnormal B cell subset distribution	8085	KMT2D	OMIM:147920
HP:0025539	Abnormal B cell subset distribution	7403	KDM6A	OMIM:147920
HP:0025539	Abnormal B cell subset distribution	5295	PIK3R1	OMIM:616005
HP:0025539	Abnormal B cell subset distribution	3659	IRF1	OMIM:620668
HP:0025539	Abnormal B cell subset distribution	5293	PIK3CD	OMIM:615513
HP:0025539	Abnormal B cell subset distribution	5966	REL	OMIM:619652
HP:0025539	Abnormal B cell subset distribution	54790	TET2	OMIM:619126
HP:0025539	Abnormal B cell subset distribution	930	CD19	OMIM:613493
HP:0025539	Abnormal B cell subset distribution	3937	LCP2	OMIM:619374
HP:0025539	Abnormal B cell subset distribution	8651	SOCS1	OMIM:619375
HP:0025539	Abnormal B cell subset distribution	23308	ICOSLG	OMIM:620825
HP:0025539	Abnormal B cell subset distribution	10525	HYOU1	OMIM:233600
HP:0025539	Abnormal B cell subset distribution	96459	FNIP1	OMIM:619705
HP:0025539	Abnormal B cell subset distribution	359948	IRF2BP2	OMIM:617765
HP:0025539	Abnormal B cell subset distribution	9020	MAP3K14	OMIM:620449
HP:0025539	Abnormal B cell subset distribution	5336	PLCG2	OMIM:614878
HP:0025539	Abnormal B cell subset distribution	3570	IL6R	OMIM:618944
HP:0025539	Abnormal B cell subset distribution	987	LRBA	OMIM:614700
HP:0025539	Abnormal B cell subset distribution	59067	IL21	OMIM:615767
HP:0025539	Abnormal B cell subset distribution	56259	CTNNBL1	OMIM:619846
HP:0025539	Abnormal B cell subset distribution	29851	ICOS	OMIM:607594
HP:0025539	Abnormal B cell subset distribution	29927	SEC61A1	OMIM:620674
HP:0025539	Abnormal B cell subset distribution	5580	PRKCD	OMIM:615559
HP:0025539	Abnormal B cell subset distribution	10125	RASGRP1	OMIM:618534
HP:0030830	Crackles	1439	CSF2RB	ORPHA:264675
HP:0030830	Crackles	1438	CSF2RA	ORPHA:264675
HP:0030830	Crackles	653509	SFTPA1	OMIM:619611
HP:0030830	Crackles	653509	SFTPA1	ORPHA:2032
HP:0030830	Crackles	6340	SCNN1G	ORPHA:60033
HP:0030830	Crackles	1080	CFTR	ORPHA:60033
HP:0030830	Crackles	6337	SCNN1A	ORPHA:60033
HP:0030830	Crackles	6338	SCNN1B	ORPHA:60033
HP:0030830	Crackles	7015	TERT	OMIM:614742
HP:0030830	Crackles	7015	TERT	ORPHA:2032
HP:0030830	Crackles	6440	SFTPC	ORPHA:2032
HP:0030830	Crackles	729238	SFTPA2	ORPHA:2032
HP:0030830	Crackles	79991	STN1	ORPHA:2032
HP:0030830	Crackles	21	ABCA3	ORPHA:2032
HP:0030830	Crackles	1832	DSP	ORPHA:2032
HP:0030830	Crackles	727897	MUC5B	ORPHA:2032
HP:0030830	Crackles	10144	FAM13A	ORPHA:2032
HP:0030830	Crackles	23250	ATP11A	ORPHA:2032
HP:0030830	Crackles	91039	DPP9	ORPHA:2032
HP:0030830	Crackles	51750	RTEL1	ORPHA:2032
HP:0030830	Crackles	7012	TERC	ORPHA:2032
HP:0030830	Crackles	5073	PARN	ORPHA:2032
HP:0030830	Crackles	3123	HLA-DRB1	ORPHA:747
HP:0030830	Crackles	6261	RYR1	ORPHA:466650
HP:0030830	Crackles	10551	AGR2	OMIM:620233
HP:0030830	Crackles	7080	NKX2-1	OMIM:610978
HP:0030830	Crackles	25913	POT1	OMIM:620367
HP:0030839	Knee pain	10804	GJB6	ORPHA:477
HP:0030839	Knee pain	2706	GJB2	ORPHA:477
HP:0030839	Knee pain	6399	TRAPPC2	ORPHA:93284
HP:0030839	Knee pain	1298	COL9A2	OMIM:600204
HP:0030839	Knee pain	1298	COL9A2	ORPHA:166002
HP:0030839	Knee pain	1301	COL11A1	OMIM:604841
HP:0030839	Knee pain	6578	SLCO2A1	OMIM:614441
HP:0030839	Knee pain	6578	SLCO2A1	OMIM:167100
HP:0030839	Knee pain	26580	BSCL2	ORPHA:100998
HP:0030839	Knee pain	1299	COL9A3	OMIM:600969
HP:0030839	Knee pain	1299	COL9A3	ORPHA:166002
HP:0030839	Knee pain	4010	LMX1B	ORPHA:2614
HP:0030839	Knee pain	1297	COL9A1	OMIM:614135
HP:0030839	Knee pain	1297	COL9A1	ORPHA:166002
HP:0030839	Knee pain	1311	COMP	ORPHA:93308
HP:0030839	Knee pain	1280	COL2A1	ORPHA:94068
HP:0030839	Knee pain	4322	MMP13	OMIM:250400
HP:0030839	Knee pain	4796	TONSL	ORPHA:93357
HP:0030839	Knee pain	567	B2M	ORPHA:314652
HP:0030839	Knee pain	4148	MATN3	ORPHA:93311
HP:0030839	Knee pain	3373	HYAL1	OMIM:601492
HP:0030838	Hip pain	1280	COL2A1	OMIM:608805
HP:0030838	Hip pain	1280	COL2A1	ORPHA:86820
HP:0030838	Hip pain	1280	COL2A1	ORPHA:94068
HP:0030838	Hip pain	4000	LMNA	ORPHA:740
HP:0030838	Hip pain	10269	ZMPSTE24	ORPHA:740
HP:0030838	Hip pain	59341	TRPV4	ORPHA:86820
HP:0030838	Hip pain	26580	BSCL2	ORPHA:100998
HP:0030838	Hip pain	23592	LEMD3	ORPHA:166119
HP:0030838	Hip pain	7415	VCP	OMIM:167320
HP:0030838	Hip pain	7415	VCP	ORPHA:52430
HP:0030838	Hip pain	3178	HNRNPA1	ORPHA:52430
HP:0030838	Hip pain	3181	HNRNPA2B1	ORPHA:52430
HP:0030838	Hip pain	4148	MATN3	OMIM:607078
HP:0030838	Hip pain	90	ACVR1	ORPHA:337
HP:0030838	Hip pain	3373	HYAL1	OMIM:601492
HP:0030836	Wrist pain	9935	MAFB	OMIM:166300
HP:0030836	Wrist pain	567	B2M	ORPHA:314652
HP:0030834	Shoulder pain	3075	CFH	ORPHA:244242
HP:0030834	Shoulder pain	3426	CFI	ORPHA:244242
HP:0030834	Shoulder pain	4179	CD46	ORPHA:244242
HP:0030834	Shoulder pain	101101692	HELLPAR	ORPHA:244242
HP:0030834	Shoulder pain	4796	TONSL	ORPHA:93357
HP:0030834	Shoulder pain	567	B2M	ORPHA:314652
HP:0030834	Shoulder pain	5376	PMP22	ORPHA:101081
HP:0030833	Neck pain	5654	HTRA1	ORPHA:199354
HP:0030833	Neck pain	22943	DKK1	ORPHA:268882
HP:0030833	Neck pain	9573	GDF3	ORPHA:2345
HP:0030833	Neck pain	392255	GDF6	ORPHA:2345
HP:0030833	Neck pain	4222	MEOX1	ORPHA:2345
HP:0030833	Neck pain	5921	RASA1	ORPHA:90307
HP:0030833	Neck pain	3145	HMBS	ORPHA:79276
HP:0030833	Neck pain	4796	TONSL	ORPHA:93357
HP:0025540	Abnormal T cell subset distribution	843	CASP10	OMIM:603909
HP:0025540	Abnormal T cell subset distribution	356	FASLG	OMIM:601859
HP:0025540	Abnormal T cell subset distribution	355	FAS	OMIM:601859
HP:0025540	Abnormal T cell subset distribution	57724	EPG5	OMIM:242840
HP:0025540	Abnormal T cell subset distribution	10043	TOM1	OMIM:619510
HP:0025540	Abnormal T cell subset distribution	3702	ITK	OMIM:613011
HP:0025540	Abnormal T cell subset distribution	29927	SEC61A1	OMIM:617056
HP:0025540	Abnormal T cell subset distribution	10625	IVNS1ABP	OMIM:618969
HP:0025540	Abnormal T cell subset distribution	3932	LCK	OMIM:615758
HP:0025540	Abnormal T cell subset distribution	54440	SASH3	OMIM:301082
HP:0025540	Abnormal T cell subset distribution	4609	MYC	ORPHA:543
HP:0025540	Abnormal T cell subset distribution	81704	DOCK8	OMIM:243700
HP:0025540	Abnormal T cell subset distribution	5424	POLD1	OMIM:620836
HP:0025540	Abnormal T cell subset distribution	472	ATM	OMIM:208900
HP:0025540	Abnormal T cell subset distribution	3953	LEPR	ORPHA:179494
HP:0025540	Abnormal T cell subset distribution	3952	LEP	ORPHA:66628
HP:0025540	Abnormal T cell subset distribution	2137	EXTL3	ORPHA:508533
HP:0025540	Abnormal T cell subset distribution	7454	WAS	OMIM:301000
HP:0025540	Abnormal T cell subset distribution	56160	NSMCE3	OMIM:617241
HP:0025540	Abnormal T cell subset distribution	7456	WIPF1	OMIM:614493
HP:0025540	Abnormal T cell subset distribution	3551	IKBKB	OMIM:618204
HP:0025540	Abnormal T cell subset distribution	917	CD3G	OMIM:615607
HP:0025540	Abnormal T cell subset distribution	7535	ZAP70	ORPHA:911
HP:0025540	Abnormal T cell subset distribution	925	CD8A	OMIM:608957
HP:0025540	Abnormal T cell subset distribution	84433	CARD11	OMIM:615206
HP:0025540	Abnormal T cell subset distribution	56259	CTNNBL1	OMIM:619846
HP:0025540	Abnormal T cell subset distribution	5294	PIK3CG	OMIM:619802
HP:0025540	Abnormal T cell subset distribution	3559	IL2RA	OMIM:606367
HP:0025540	Abnormal T cell subset distribution	5293	PIK3CD	ORPHA:221139
HP:0025540	Abnormal T cell subset distribution	90417	KNSTRN	ORPHA:221139
HP:0025540	Abnormal T cell subset distribution	3115	HLA-DPB1	ORPHA:133
HP:0025540	Abnormal T cell subset distribution	64170	CARD9	OMIM:212050
HP:0025540	Abnormal T cell subset distribution	641	BLM	ORPHA:125
HP:0025540	Abnormal T cell subset distribution	5238	PGM3	ORPHA:443811
HP:0025540	Abnormal T cell subset distribution	10125	RASGRP1	OMIM:618534
HP:0025540	Abnormal T cell subset distribution	5994	RFXAP	ORPHA:572
HP:0025540	Abnormal T cell subset distribution	4261	CIITA	ORPHA:572
HP:0025540	Abnormal T cell subset distribution	5993	RFX5	ORPHA:572
HP:0025540	Abnormal T cell subset distribution	8625	RFXANK	ORPHA:572
HP:0025540	Abnormal T cell subset distribution	9948	WDR1	OMIM:150550
HP:0025540	Abnormal T cell subset distribution	6850	SYK	OMIM:619381
HP:0025540	Abnormal T cell subset distribution	8456	FOXN1	ORPHA:83471
HP:0025540	Abnormal T cell subset distribution	50943	FOXP3	ORPHA:37042
HP:0025540	Abnormal T cell subset distribution	399	RHOH	OMIM:618307
HP:0025540	Abnormal T cell subset distribution	55072	RNF31	OMIM:620632
HP:0025540	Abnormal T cell subset distribution	3071	NCKAP1L	OMIM:618982
HP:0025540	Abnormal T cell subset distribution	27040	LAT	OMIM:617514
HP:0025540	Abnormal T cell subset distribution	10159	ATP6AP2	OMIM:301045
HP:0025540	Abnormal T cell subset distribution	1729	DIAPH1	ORPHA:477814
HP:0025540	Abnormal T cell subset distribution	920	CD4	OMIM:619238
HP:0025540	Abnormal T cell subset distribution	84061	MAGT1	OMIM:300853
HP:0025540	Abnormal T cell subset distribution	3937	LCP2	OMIM:619374
HP:0025540	Abnormal T cell subset distribution	50619	DEF6	OMIM:619573
HP:0025540	Abnormal T cell subset distribution	90268	OTULIN	OMIM:617099
HP:0025540	Abnormal T cell subset distribution	1493	CTLA4	ORPHA:3162
HP:0025540	Abnormal T cell subset distribution	940	CD28	ORPHA:3162
HP:0025540	Abnormal T cell subset distribution	7133	TNFRSF1B	ORPHA:3162
HP:0025540	Abnormal T cell subset distribution	51371	POMP	OMIM:618048
HP:0025540	Abnormal T cell subset distribution	5699	PSMB10	OMIM:620807
HP:0025540	Abnormal T cell subset distribution	2624	GATA2	OMIM:614038
HP:0025540	Abnormal T cell subset distribution	841	CASP8	OMIM:607271
HP:0025540	Abnormal T cell subset distribution	9094	UNC119	OMIM:615518
HP:0025540	Abnormal T cell subset distribution	8546	AP3B1	OMIM:608233
HP:0025540	Abnormal T cell subset distribution	3560	IL2RB	OMIM:618495
HP:0025540	Abnormal T cell subset distribution	3561	IL2RG	ORPHA:276
HP:0025540	Abnormal T cell subset distribution	4860	PNP	ORPHA:760
HP:0025540	Abnormal T cell subset distribution	5896	RAG1	ORPHA:331206
HP:0025540	Abnormal T cell subset distribution	5897	RAG2	ORPHA:331206
HP:0025540	Abnormal T cell subset distribution	3575	IL7R	ORPHA:169154
HP:0025540	Abnormal T cell subset distribution	916	CD3E	OMIM:615615
HP:0025540	Abnormal T cell subset distribution	916	CD3E	ORPHA:169160
HP:0025540	Abnormal T cell subset distribution	915	CD3D	ORPHA:169160
HP:0025540	Abnormal T cell subset distribution	919	CD247	ORPHA:169160
HP:0025540	Abnormal T cell subset distribution	64421	DCLRE1C	ORPHA:275
HP:0025540	Abnormal T cell subset distribution	50485	SMARCAL1	ORPHA:1830
HP:0025540	Abnormal T cell subset distribution	3659	IRF1	OMIM:620668
HP:0025540	Abnormal T cell subset distribution	5295	PIK3R1	OMIM:616005
HP:0025540	Abnormal T cell subset distribution	64919	BCL11B	OMIM:617237
HP:0025540	Abnormal T cell subset distribution	8085	KMT2D	OMIM:147920
HP:0025540	Abnormal T cell subset distribution	7403	KDM6A	OMIM:147920
HP:0025540	Abnormal T cell subset distribution	8915	BCL10	OMIM:616098
HP:0025540	Abnormal T cell subset distribution	6929	TCF3	OMIM:619824
HP:0025540	Abnormal T cell subset distribution	3978	LIG1	OMIM:619774
HP:0025540	Abnormal T cell subset distribution	9020	MAP3K14	OMIM:620449
HP:0025540	Abnormal T cell subset distribution	5698	PSMB9	OMIM:620796
HP:0025540	Abnormal T cell subset distribution	1503	CTPS1	OMIM:615897
HP:0005339	Abnormality of complement system	9056	SLC7A7	ORPHA:470
HP:0005339	Abnormality of complement system	10747	MASP2	OMIM:613791
HP:0005339	Abnormality of complement system	1776	DNASE1L3	ORPHA:36412
HP:0005339	Abnormality of complement system	2584	GALK1	ORPHA:79237
HP:0005339	Abnormality of complement system	732	C8B	OMIM:613789
HP:0005339	Abnormality of complement system	731	C8A	OMIM:613790
HP:0005339	Abnormality of complement system	716	C1S	OMIM:613783
HP:0005339	Abnormality of complement system	4000	LMNA	ORPHA:2348
HP:0005339	Abnormality of complement system	712	C1QA	OMIM:613652
HP:0005339	Abnormality of complement system	3426	CFI	OMIM:610984
HP:0005339	Abnormality of complement system	10878	CFHR3	OMIM:235400
HP:0005339	Abnormality of complement system	3075	CFH	OMIM:235400
HP:0005339	Abnormality of complement system	3078	CFHR1	OMIM:235400
HP:0005339	Abnormality of complement system	629	CFB	OMIM:615561
HP:0005339	Abnormality of complement system	5580	PRKCD	OMIM:615559
HP:0005339	Abnormality of complement system	84823	LMNB2	ORPHA:79087
HP:0005339	Abnormality of complement system	84823	LMNB2	OMIM:608709
HP:0005339	Abnormality of complement system	4179	CD46	OMIM:612922
HP:0005339	Abnormality of complement system	6775	STAT4	ORPHA:93552
HP:0005339	Abnormality of complement system	6775	STAT4	ORPHA:536
HP:0005339	Abnormality of complement system	6696	SPP1	ORPHA:93552
HP:0005339	Abnormality of complement system	6696	SPP1	ORPHA:536
HP:0005339	Abnormality of complement system	6303	SAT1	ORPHA:93552
HP:0005339	Abnormality of complement system	3654	IRAK1	ORPHA:93552
HP:0005339	Abnormality of complement system	3654	IRAK1	ORPHA:536
HP:0005339	Abnormality of complement system	718	C3	OMIM:613779
HP:0005339	Abnormality of complement system	718	C3	OMIM:612925
HP:0005339	Abnormality of complement system	7056	THBD	OMIM:612926
HP:0005339	Abnormality of complement system	51284	TLR7	OMIM:301080
HP:0005339	Abnormality of complement system	51284	TLR7	ORPHA:536
HP:0005339	Abnormality of complement system	55690	PACS1	ORPHA:329224
HP:0005339	Abnormality of complement system	5335	PLCG1	OMIM:620514
HP:0005339	Abnormality of complement system	2215	FCGR3B	ORPHA:536
HP:0005339	Abnormality of complement system	3684	ITGAM	ORPHA:536
HP:0005339	Abnormality of complement system	3586	IL10	ORPHA:536
HP:0005339	Abnormality of complement system	221895	JAZF1	ORPHA:536
HP:0005339	Abnormality of complement system	11277	TREX1	ORPHA:536
HP:0005339	Abnormality of complement system	7292	TNFSF4	ORPHA:536
HP:0005339	Abnormality of complement system	640	BLK	ORPHA:536
HP:0005339	Abnormality of complement system	720	C4A	ORPHA:536
HP:0005339	Abnormality of complement system	55024	BANK1	ORPHA:536
HP:0005339	Abnormality of complement system	3500	IGHG1	ORPHA:536
HP:0005339	Abnormality of complement system	1493	CTLA4	ORPHA:536
HP:0005339	Abnormality of complement system	26191	PTPN22	ORPHA:536
HP:0005339	Abnormality of complement system	1380	CR2	ORPHA:536
HP:0005339	Abnormality of complement system	5133	PDCD1	ORPHA:536
HP:0005339	Abnormality of complement system	2113	ETS1	ORPHA:536
HP:0005339	Abnormality of complement system	2213	FCGR2B	ORPHA:536
HP:0005339	Abnormality of complement system	10318	TNIP1	ORPHA:536
HP:0005339	Abnormality of complement system	7332	UBE2L3	ORPHA:536
HP:0005339	Abnormality of complement system	79932	KIAA0319L	ORPHA:536
HP:0005339	Abnormality of complement system	4204	MECP2	ORPHA:536
HP:0005339	Abnormality of complement system	3663	IRF5	ORPHA:536
HP:0005339	Abnormality of complement system	3123	HLA-DRB1	ORPHA:536
HP:0005339	Abnormality of complement system	721	C4B	ORPHA:536
HP:0005339	Abnormality of complement system	1773	DNASE1	ORPHA:536
HP:0005339	Abnormality of complement system	54899	PXK	ORPHA:536
HP:0005339	Abnormality of complement system	7128	TNFAIP3	ORPHA:536
HP:0005339	Abnormality of complement system	5199	CFP	OMIM:312060
HP:0005339	Abnormality of complement system	1675	CFD	OMIM:613912
HP:0005339	Abnormality of complement system	735	C9	OMIM:613825
HP:0005339	Abnormality of complement system	727	C5	OMIM:609536
HP:0005339	Abnormality of complement system	729	C6	OMIM:612446
HP:0005339	Abnormality of complement system	730	C7	OMIM:610102
HP:0005339	Abnormality of complement system	710	SERPING1	OMIM:106100
HP:0005339	Abnormality of complement system	714	C1QC	OMIM:620322
HP:0005339	Abnormality of complement system	713	C1QB	OMIM:620321
HP:0007958	Optic atrophy from cranial nerve compression	10312	TCIRG1	ORPHA:210110
HP:0007958	Optic atrophy from cranial nerve compression	1186	CLCN7	ORPHA:210110
HP:0007958	Optic atrophy from cranial nerve compression	9842	PLEKHM1	ORPHA:210110
HP:0030840	Ankle pain	23592	LEMD3	ORPHA:166119
HP:0030840	Ankle pain	1301	COL11A1	OMIM:604841
HP:0030840	Ankle pain	1311	COMP	ORPHA:93308
HP:0030840	Ankle pain	1311	COMP	OMIM:132400
HP:0030840	Ankle pain	9935	MAFB	OMIM:166300
HP:0030840	Ankle pain	4148	MATN3	ORPHA:93311
HP:0030840	Ankle pain	3373	HYAL1	OMIM:601492
HP:0025546	Abnormal mean corpuscular hemoglobin concentration	3043	HBB	ORPHA:90039
HP:0025546	Abnormal mean corpuscular hemoglobin concentration	3043	HBB	OMIM:603902
HP:0025546	Abnormal mean corpuscular hemoglobin concentration	3043	HBB	ORPHA:231226
HP:0025546	Abnormal mean corpuscular hemoglobin concentration	3043	HBB	ORPHA:231214
HP:0025546	Abnormal mean corpuscular hemoglobin concentration	3075	CFH	ORPHA:244242
HP:0025546	Abnormal mean corpuscular hemoglobin concentration	3426	CFI	ORPHA:244242
HP:0025546	Abnormal mean corpuscular hemoglobin concentration	4179	CD46	ORPHA:244242
HP:0025546	Abnormal mean corpuscular hemoglobin concentration	101101692	HELLPAR	ORPHA:244242
HP:0025546	Abnormal mean corpuscular hemoglobin concentration	6005	RHAG	ORPHA:3203
HP:0025546	Abnormal mean corpuscular hemoglobin concentration	3783	KCNN4	OMIM:616689
HP:0025546	Abnormal mean corpuscular hemoglobin concentration	3783	KCNN4	ORPHA:3202
HP:0025546	Abnormal mean corpuscular hemoglobin concentration	404672	GTF2H5	ORPHA:33364
HP:0025546	Abnormal mean corpuscular hemoglobin concentration	833	CARS1	ORPHA:33364
HP:0025546	Abnormal mean corpuscular hemoglobin concentration	2068	ERCC2	ORPHA:33364
HP:0025546	Abnormal mean corpuscular hemoglobin concentration	7737	RNF113A	ORPHA:33364
HP:0025546	Abnormal mean corpuscular hemoglobin concentration	136647	MPLKIP	ORPHA:33364
HP:0025546	Abnormal mean corpuscular hemoglobin concentration	6897	TARS1	ORPHA:33364
HP:0025546	Abnormal mean corpuscular hemoglobin concentration	16	AARS1	ORPHA:33364
HP:0025546	Abnormal mean corpuscular hemoglobin concentration	2071	ERCC3	ORPHA:33364
HP:0025546	Abnormal mean corpuscular hemoglobin concentration	2961	GTF2E2	ORPHA:33364
HP:0025546	Abnormal mean corpuscular hemoglobin concentration	9780	PIEZO1	OMIM:194380
HP:0025546	Abnormal mean corpuscular hemoglobin concentration	9780	PIEZO1	ORPHA:3202
HP:0025546	Abnormal mean corpuscular hemoglobin concentration	6521	SLC4A1	ORPHA:3202
HP:0025546	Abnormal mean corpuscular hemoglobin concentration	6521	SLC4A1	ORPHA:822
HP:0025546	Abnormal mean corpuscular hemoglobin concentration	2038	EPB42	ORPHA:822
HP:0025546	Abnormal mean corpuscular hemoglobin concentration	6710	SPTB	ORPHA:822
HP:0025546	Abnormal mean corpuscular hemoglobin concentration	6708	SPTA1	ORPHA:822
HP:0025546	Abnormal mean corpuscular hemoglobin concentration	286	ANK1	ORPHA:822
HP:0025547	Decreased mean corpuscular hemoglobin concentration	3043	HBB	ORPHA:90039
HP:0025547	Decreased mean corpuscular hemoglobin concentration	3043	HBB	OMIM:603902
HP:0025547	Decreased mean corpuscular hemoglobin concentration	3043	HBB	ORPHA:231226
HP:0025547	Decreased mean corpuscular hemoglobin concentration	3043	HBB	ORPHA:231214
HP:0025547	Decreased mean corpuscular hemoglobin concentration	3075	CFH	ORPHA:244242
HP:0025547	Decreased mean corpuscular hemoglobin concentration	3426	CFI	ORPHA:244242
HP:0025547	Decreased mean corpuscular hemoglobin concentration	4179	CD46	ORPHA:244242
HP:0025547	Decreased mean corpuscular hemoglobin concentration	101101692	HELLPAR	ORPHA:244242
HP:0025547	Decreased mean corpuscular hemoglobin concentration	6005	RHAG	ORPHA:3203
HP:0001771	Achilles tendon contracture	6445	SGCG	ORPHA:353
HP:0001771	Achilles tendon contracture	55906	ZC4H2	OMIM:301041
HP:0001771	Achilles tendon contracture	7273	TTN	OMIM:603689
HP:0001771	Achilles tendon contracture	3094	HINT1	ORPHA:324442
HP:0001771	Achilles tendon contracture	23516	SLC39A14	OMIM:617013
HP:0001771	Achilles tendon contracture	4010	LMX1B	ORPHA:2614
HP:0001771	Achilles tendon contracture	79912	PYROXD1	OMIM:617258
HP:0001771	Achilles tendon contracture	1756	DMD	OMIM:310200
HP:0001771	Achilles tendon contracture	170689	ADAMTS15	OMIM:620545
HP:0001771	Achilles tendon contracture	7138	TNNT1	OMIM:620389
HP:0001771	Achilles tendon contracture	6442	SGCA	ORPHA:62
HP:0001771	Achilles tendon contracture	9990	SLC12A6	OMIM:620068
HP:0001771	Achilles tendon contracture	10060	ABCC9	OMIM:619719
HP:0001771	Achilles tendon contracture	4000	LMNA	OMIM:181350
HP:0001771	Achilles tendon contracture	4000	LMNA	OMIM:151660
HP:0001771	Achilles tendon contracture	4000	LMNA	OMIM:613205
HP:0001771	Achilles tendon contracture	4000	LMNA	ORPHA:98855
HP:0001771	Achilles tendon contracture	4000	LMNA	ORPHA:98853
HP:0001771	Achilles tendon contracture	5339	PLEC	ORPHA:254361
HP:0001771	Achilles tendon contracture	64419	MTMR14	OMIM:160150
HP:0001771	Achilles tendon contracture	1785	DNM2	OMIM:160150
HP:0001771	Achilles tendon contracture	3714	JAG2	OMIM:619566
HP:0001771	Achilles tendon contracture	113179	ADAT3	ORPHA:363528
HP:0001771	Achilles tendon contracture	51506	UFC1	OMIM:618076
HP:0001771	Achilles tendon contracture	58	ACTA1	OMIM:616852
HP:0001771	Achilles tendon contracture	55768	NGLY1	ORPHA:404454
HP:0001771	Achilles tendon contracture	2799	GNS	OMIM:252940
HP:0001771	Achilles tendon contracture	9215	LARGE1	OMIM:608840
HP:0001771	Achilles tendon contracture	6329	SCN4A	OMIM:620351
HP:0001771	Achilles tendon contracture	6329	SCN4A	OMIM:620369
HP:0001771	Achilles tendon contracture	1303	COL12A1	ORPHA:610
HP:0001771	Achilles tendon contracture	1291	COL6A1	ORPHA:610
HP:0001771	Achilles tendon contracture	1292	COL6A2	ORPHA:610
HP:0001771	Achilles tendon contracture	1292	COL6A2	OMIM:255600
HP:0001771	Achilles tendon contracture	1293	COL6A3	ORPHA:610
HP:0001771	Achilles tendon contracture	79147	FKRP	OMIM:607155
HP:0001771	Achilles tendon contracture	79147	FKRP	OMIM:606612
HP:0001771	Achilles tendon contracture	79147	FKRP	ORPHA:370980
HP:0001771	Achilles tendon contracture	23299	BICD2	OMIM:615290
HP:0001771	Achilles tendon contracture	2273	FHL1	OMIM:300696
HP:0001771	Achilles tendon contracture	2273	FHL1	OMIM:300695
HP:0001771	Achilles tendon contracture	2273	FHL1	ORPHA:98863
HP:0001771	Achilles tendon contracture	51651	PTRH2	OMIM:616263
HP:0001771	Achilles tendon contracture	51651	PTRH2	ORPHA:456312
HP:0001771	Achilles tendon contracture	54888	NSUN2	OMIM:611091
HP:0001771	Achilles tendon contracture	339855	KY	OMIM:617114
HP:0001771	Achilles tendon contracture	6709	SPTAN1	OMIM:620528
HP:0001771	Achilles tendon contracture	84466	MEGF10	OMIM:620249
HP:0001771	Achilles tendon contracture	4141	MARS1	OMIM:620323
HP:0001771	Achilles tendon contracture	291	SLC25A4	OMIM:615418
HP:0001771	Achilles tendon contracture	2010	EMD	OMIM:310300
HP:0001771	Achilles tendon contracture	2010	EMD	ORPHA:98863
HP:0001771	Achilles tendon contracture	57679	ALS2	OMIM:607225
HP:0001771	Achilles tendon contracture	11145	PLAAT3	OMIM:620683
HP:0001771	Achilles tendon contracture	4556	MT-TE	ORPHA:2596
HP:0001771	Achilles tendon contracture	9499	MYOT	OMIM:609200
HP:0001771	Achilles tendon contracture	2705	GJB1	OMIM:302800
HP:0001771	Achilles tendon contracture	26090	ABHD12	OMIM:612674
HP:0001771	Achilles tendon contracture	2218	FKTN	ORPHA:370980
HP:0001771	Achilles tendon contracture	729920	CRPPA	ORPHA:370980
HP:0001771	Achilles tendon contracture	10585	POMT1	ORPHA:370980
HP:0001771	Achilles tendon contracture	3265	HRAS	OMIM:218040
HP:0001771	Achilles tendon contracture	4976	OPA1	OMIM:210000
HP:0001771	Achilles tendon contracture	79188	TMEM43	ORPHA:98853
HP:0001771	Achilles tendon contracture	23345	SYNE1	ORPHA:98853
HP:0001771	Achilles tendon contracture	23224	SYNE2	ORPHA:98853
HP:0004712	Renal malrotation	9158	FIBP	OMIM:617107
HP:0004712	Renal malrotation	9158	FIBP	ORPHA:500095
HP:0004712	Renal malrotation	57167	SALL4	ORPHA:959
HP:0004712	Renal malrotation	57167	SALL4	OMIM:607323
HP:0004712	Renal malrotation	6664	SOX11	OMIM:615866
HP:0004712	Renal malrotation	9939	RBM8A	OMIM:274000
HP:0004712	Renal malrotation	2138	EYA1	OMIM:113650
HP:0004712	Renal malrotation	6495	SIX1	OMIM:113650
HP:0004712	Renal malrotation	64220	STRA6	OMIM:601186
HP:0004712	Renal malrotation	5076	PAX2	OMIM:120330
HP:0005576	Tubulointerstitial fibrosis	261734	NPHP4	OMIM:606966
HP:0005576	Tubulointerstitial fibrosis	54	ACP5	OMIM:607944
HP:0005576	Tubulointerstitial fibrosis	7809	BSND	OMIM:602522
HP:0005576	Tubulointerstitial fibrosis	4867	NPHP1	OMIM:266900
HP:0005576	Tubulointerstitial fibrosis	4867	NPHP1	OMIM:256100
HP:0005576	Tubulointerstitial fibrosis	5972	REN	OMIM:613092
HP:0005576	Tubulointerstitial fibrosis	5800	PTPRO	OMIM:614196
HP:0005576	Tubulointerstitial fibrosis	5314	PKHD1	OMIM:263200
HP:0005576	Tubulointerstitial fibrosis	137682	NDUFAF6	OMIM:618913
HP:0005576	Tubulointerstitial fibrosis	2632	GBE1	OMIM:232500
HP:0005576	Tubulointerstitial fibrosis	84168	ANTXR1	OMIM:230740
HP:0005576	Tubulointerstitial fibrosis	4582	MUC1	OMIM:174000
HP:0005576	Tubulointerstitial fibrosis	1184	CLCN5	OMIM:310468
HP:0005576	Tubulointerstitial fibrosis	27031	NPHP3	OMIM:604387
HP:0005576	Tubulointerstitial fibrosis	2542	SLC37A4	ORPHA:79259
HP:0000003	Multicystic kidney dysplasia	23476	BRD4	ORPHA:199
HP:0000003	Multicystic kidney dysplasia	9126	SMC3	ORPHA:199
HP:0000003	Multicystic kidney dysplasia	8243	SMC1A	ORPHA:199
HP:0000003	Multicystic kidney dysplasia	6878	TAF6	ORPHA:199
HP:0000003	Multicystic kidney dysplasia	25836	NIPBL	ORPHA:199
HP:0000003	Multicystic kidney dysplasia	55869	HDAC8	ORPHA:199
HP:0000003	Multicystic kidney dysplasia	5885	RAD21	ORPHA:199
HP:0000003	Multicystic kidney dysplasia	3975	LHX1	ORPHA:261265
HP:0000003	Multicystic kidney dysplasia	6928	HNF1B	ORPHA:261265
HP:0000003	Multicystic kidney dysplasia	6928	HNF1B	ORPHA:93111
HP:0000003	Multicystic kidney dysplasia	9158	FIBP	ORPHA:500095
HP:0000003	Multicystic kidney dysplasia	64840	PORCN	ORPHA:2092
HP:0000003	Multicystic kidney dysplasia	23556	PIGN	ORPHA:2059
HP:0000003	Multicystic kidney dysplasia	9231	DLG5	OMIM:620703
HP:0000003	Multicystic kidney dysplasia	9759	HDAC4	ORPHA:1001
HP:0000003	Multicystic kidney dysplasia	145173	B3GLCT	ORPHA:709
HP:0000003	Multicystic kidney dysplasia	10992	SF3B2	OMIM:164210
HP:0000003	Multicystic kidney dysplasia	1131	CHRM3	ORPHA:2970
HP:0000003	Multicystic kidney dysplasia	7473	WNT3	ORPHA:3301
HP:0000003	Multicystic kidney dysplasia	340419	RSPO2	ORPHA:3301
HP:0000003	Multicystic kidney dysplasia	9496	TBX4	ORPHA:3301
HP:0000003	Multicystic kidney dysplasia	8405	SPOP	OMIM:618829
HP:0000003	Multicystic kidney dysplasia	91147	TMEM67	OMIM:607361
HP:0000003	Multicystic kidney dysplasia	91147	TMEM67	ORPHA:564
HP:0000003	Multicystic kidney dysplasia	91147	TMEM67	ORPHA:1454
HP:0000003	Multicystic kidney dysplasia	91147	TMEM67	ORPHA:140976
HP:0000003	Multicystic kidney dysplasia	2138	EYA1	ORPHA:107
HP:0000003	Multicystic kidney dysplasia	147912	SIX5	ORPHA:107
HP:0000003	Multicystic kidney dysplasia	6495	SIX1	ORPHA:107
HP:0000003	Multicystic kidney dysplasia	3909	LAMA3	ORPHA:79404
HP:0000003	Multicystic kidney dysplasia	3918	LAMC2	ORPHA:79404
HP:0000003	Multicystic kidney dysplasia	3914	LAMB3	ORPHA:79404
HP:0000003	Multicystic kidney dysplasia	9839	ZEB2	ORPHA:261537
HP:0000003	Multicystic kidney dysplasia	9839	ZEB2	ORPHA:261552
HP:0000003	Multicystic kidney dysplasia	8204	NRIP1	OMIM:618270
HP:0000003	Multicystic kidney dysplasia	51360	MBTPS2	OMIM:308205
HP:0000003	Multicystic kidney dysplasia	6299	SALL1	OMIM:107480
HP:0000003	Multicystic kidney dysplasia	6628	SNRPB	ORPHA:1393
HP:0000003	Multicystic kidney dysplasia	11041	B4GAT1	OMIM:615287
HP:0000003	Multicystic kidney dysplasia	23522	KAT6B	ORPHA:85201
HP:0000003	Multicystic kidney dysplasia	23522	KAT6B	OMIM:606170
HP:0000003	Multicystic kidney dysplasia	5076	PAX2	ORPHA:1475
HP:0000003	Multicystic kidney dysplasia	5076	PAX2	OMIM:120330
HP:0000003	Multicystic kidney dysplasia	55784	MCTP2	ORPHA:1596
HP:0000003	Multicystic kidney dysplasia	57466	SCAF4	OMIM:620511
HP:0000003	Multicystic kidney dysplasia	1717	DHCR7	ORPHA:818
HP:0000003	Multicystic kidney dysplasia	25802	LMOD1	ORPHA:2241
HP:0000003	Multicystic kidney dysplasia	4629	MYH11	ORPHA:2241
HP:0000003	Multicystic kidney dysplasia	72	ACTG2	ORPHA:2241
HP:0000003	Multicystic kidney dysplasia	4638	MYLK	ORPHA:2241
HP:0000003	Multicystic kidney dysplasia	2767	GNA11	ORPHA:1556
HP:0000003	Multicystic kidney dysplasia	151188	ARL6IP6	ORPHA:1556
HP:0000003	Multicystic kidney dysplasia	139285	AMER1	OMIM:300373
HP:0000003	Multicystic kidney dysplasia	403	ARL3	OMIM:618161
HP:0000003	Multicystic kidney dysplasia	2239	GPC4	ORPHA:373
HP:0000003	Multicystic kidney dysplasia	2719	GPC3	ORPHA:373
HP:0000003	Multicystic kidney dysplasia	3978	LIG1	OMIM:619774
HP:0000003	Multicystic kidney dysplasia	8195	MKKS	ORPHA:2473
HP:0000003	Multicystic kidney dysplasia	64359	NXN	ORPHA:1507
HP:0000003	Multicystic kidney dysplasia	4920	ROR2	ORPHA:1507
HP:0000003	Multicystic kidney dysplasia	10225	CD96	ORPHA:1308
HP:0000003	Multicystic kidney dysplasia	27077	B9D1	OMIM:614209
HP:0000003	Multicystic kidney dysplasia	27077	B9D1	ORPHA:564
HP:0000003	Multicystic kidney dysplasia	8481	OFD1	ORPHA:2750
HP:0000003	Multicystic kidney dysplasia	701	BUB1B	OMIM:257300
HP:0000003	Multicystic kidney dysplasia	701	BUB1B	ORPHA:1052
HP:0000003	Multicystic kidney dysplasia	3239	HOXD13	ORPHA:887
HP:0000003	Multicystic kidney dysplasia	84314	TMEM107	ORPHA:564
HP:0000003	Multicystic kidney dysplasia	26123	TCTN3	ORPHA:564
HP:0000003	Multicystic kidney dysplasia	79867	TCTN2	ORPHA:564
HP:0000003	Multicystic kidney dysplasia	80776	B9D2	ORPHA:564
HP:0000003	Multicystic kidney dysplasia	79600	TCTN1	ORPHA:564
HP:0000003	Multicystic kidney dysplasia	57096	RPGRIP1	ORPHA:564
HP:0000003	Multicystic kidney dysplasia	79848	CSPP1	ORPHA:564
HP:0000003	Multicystic kidney dysplasia	80184	CEP290	ORPHA:564
HP:0000003	Multicystic kidney dysplasia	51259	TMEM216	ORPHA:564
HP:0000003	Multicystic kidney dysplasia	57545	CC2D2A	ORPHA:564
HP:0000003	Multicystic kidney dysplasia	57545	CC2D2A	ORPHA:1454
HP:0000003	Multicystic kidney dysplasia	79583	TMEM231	ORPHA:564
HP:0000003	Multicystic kidney dysplasia	79770	TXNDC15	ORPHA:564
HP:0000003	Multicystic kidney dysplasia	23322	RPGRIP1L	ORPHA:564
HP:0000003	Multicystic kidney dysplasia	23322	RPGRIP1L	ORPHA:1454
HP:0000003	Multicystic kidney dysplasia	54903	MKS1	ORPHA:564
HP:0000003	Multicystic kidney dysplasia	65062	TMEM237	ORPHA:564
HP:0000003	Multicystic kidney dysplasia	27031	NPHP3	OMIM:267010
HP:0000003	Multicystic kidney dysplasia	27031	NPHP3	ORPHA:3032
HP:0000003	Multicystic kidney dysplasia	25970	SH2B1	ORPHA:261197
HP:0000003	Multicystic kidney dysplasia	9184	BUB3	ORPHA:1052
HP:0000003	Multicystic kidney dysplasia	699	BUB1	ORPHA:1052
HP:0000003	Multicystic kidney dysplasia	9702	CEP57	ORPHA:1052
HP:0000003	Multicystic kidney dysplasia	9319	TRIP13	ORPHA:1052
HP:0000003	Multicystic kidney dysplasia	583	BBS2	OMIM:615981
HP:0000003	Multicystic kidney dysplasia	56623	INPP5E	ORPHA:1454
HP:0000003	Multicystic kidney dysplasia	7020	TFAP2A	ORPHA:1297
HP:0000003	Multicystic kidney dysplasia	63895	PIEZO2	ORPHA:2461
HP:0000003	Multicystic kidney dysplasia	55670	PEX26	ORPHA:912
HP:0000003	Multicystic kidney dysplasia	5824	PEX19	ORPHA:912
HP:0000003	Multicystic kidney dysplasia	5828	PEX2	ORPHA:912
HP:0000003	Multicystic kidney dysplasia	8504	PEX3	ORPHA:912
HP:0000003	Multicystic kidney dysplasia	8799	PEX11B	ORPHA:912
HP:0000003	Multicystic kidney dysplasia	9409	PEX16	ORPHA:912
HP:0000003	Multicystic kidney dysplasia	5190	PEX6	ORPHA:912
HP:0000003	Multicystic kidney dysplasia	5830	PEX5	ORPHA:912
HP:0000003	Multicystic kidney dysplasia	5189	PEX1	ORPHA:912
HP:0000003	Multicystic kidney dysplasia	5193	PEX12	ORPHA:912
HP:0000003	Multicystic kidney dysplasia	5194	PEX13	ORPHA:912
HP:0000003	Multicystic kidney dysplasia	5195	PEX14	ORPHA:912
HP:0000003	Multicystic kidney dysplasia	5192	PEX10	ORPHA:912
HP:0000003	Multicystic kidney dysplasia	80000	GREB1L	OMIM:617805
HP:0000003	Multicystic kidney dysplasia	2313	FLI1	ORPHA:2308
HP:0000003	Multicystic kidney dysplasia	8085	KMT2D	OMIM:147920
HP:0000003	Multicystic kidney dysplasia	7403	KDM6A	OMIM:147920
HP:0000113	Polycystic kidney dysplasia	51726	DNAJB11	OMIM:618061
HP:0000113	Polycystic kidney dysplasia	79659	DYNC2H1	OMIM:613091
HP:0000113	Polycystic kidney dysplasia	5311	PKD2	OMIM:613095
HP:0000113	Polycystic kidney dysplasia	79583	TMEM231	OMIM:615397
HP:0000113	Polycystic kidney dysplasia	2138	EYA1	OMIM:113650
HP:0000113	Polycystic kidney dysplasia	6495	SIX1	OMIM:113650
HP:0000113	Polycystic kidney dysplasia	5314	PKHD1	OMIM:263200
HP:0000113	Polycystic kidney dysplasia	5314	PKHD1	ORPHA:53035
HP:0000113	Polycystic kidney dysplasia	5314	PKHD1	ORPHA:731
HP:0000113	Polycystic kidney dysplasia	4750	NEK1	OMIM:263520
HP:0000113	Polycystic kidney dysplasia	100151683	RNU4ATAC	OMIM:210710
HP:0000113	Polycystic kidney dysplasia	199221	DZIP1L	OMIM:617610
HP:0000113	Polycystic kidney dysplasia	199221	DZIP1L	ORPHA:731
HP:0000113	Polycystic kidney dysplasia	5828	PEX2	OMIM:614866
HP:0000113	Polycystic kidney dysplasia	8195	MKKS	OMIM:236700
HP:0000113	Polycystic kidney dysplasia	79770	TXNDC15	OMIM:619879
HP:0000113	Polycystic kidney dysplasia	85358	SHANK3	OMIM:606232
HP:0000113	Polycystic kidney dysplasia	79796	ALG9	OMIM:608776
HP:0000113	Polycystic kidney dysplasia	79796	ALG9	OMIM:263210
HP:0000113	Polycystic kidney dysplasia	5830	PEX5	OMIM:214110
HP:0000113	Polycystic kidney dysplasia	157570	ESCO2	ORPHA:3103
HP:0000113	Polycystic kidney dysplasia	157570	ESCO2	OMIM:268300
HP:0000113	Polycystic kidney dysplasia	9321	TRIP11	OMIM:184260
HP:0000113	Polycystic kidney dysplasia	27031	NPHP3	OMIM:208540
HP:0000113	Polycystic kidney dysplasia	219854	TMEM218	OMIM:619562
HP:0000113	Polycystic kidney dysplasia	112752	IFT43	OMIM:617866
HP:0000113	Polycystic kidney dysplasia	79577	CDC73	OMIM:145001
HP:0000113	Polycystic kidney dysplasia	169792	GLIS3	OMIM:610199
HP:0000113	Polycystic kidney dysplasia	8481	OFD1	OMIM:311200
HP:0000113	Polycystic kidney dysplasia	10847	SRCAP	ORPHA:2044
HP:0000113	Polycystic kidney dysplasia	1376	CPT2	OMIM:608836
HP:0000113	Polycystic kidney dysplasia	1376	CPT2	ORPHA:228308
HP:0000113	Polycystic kidney dysplasia	8260	NAA10	OMIM:300855
HP:0000113	Polycystic kidney dysplasia	9786	KIAA0586	OMIM:616546
HP:0000113	Polycystic kidney dysplasia	2625	GATA3	ORPHA:2237
HP:0000113	Polycystic kidney dysplasia	4853	NOTCH2	OMIM:102500
HP:0000113	Polycystic kidney dysplasia	23090	ZNF423	OMIM:614844
HP:0000113	Polycystic kidney dysplasia	3458	IFNG	ORPHA:805
HP:0000113	Polycystic kidney dysplasia	7248	TSC1	ORPHA:805
HP:0000113	Polycystic kidney dysplasia	7249	TSC2	ORPHA:805
HP:0000113	Polycystic kidney dysplasia	1312	COMT	ORPHA:567
HP:0000113	Polycystic kidney dysplasia	221037	JMJD1C	ORPHA:567
HP:0000113	Polycystic kidney dysplasia	2812	GP1BB	ORPHA:567
HP:0000113	Polycystic kidney dysplasia	6239	RREB1	ORPHA:567
HP:0000113	Polycystic kidney dysplasia	6899	TBX1	ORPHA:567
HP:0000113	Polycystic kidney dysplasia	7290	HIRA	ORPHA:567
HP:0000113	Polycystic kidney dysplasia	9632	SEC24C	ORPHA:567
HP:0000113	Polycystic kidney dysplasia	7353	UFD1	ORPHA:567
HP:0000113	Polycystic kidney dysplasia	421	ARVCF	ORPHA:567
HP:0000113	Polycystic kidney dysplasia	57539	WDR35	OMIM:614091
HP:0000113	Polycystic kidney dysplasia	23193	GANAB	OMIM:600666
HP:0000113	Polycystic kidney dysplasia	203286	ANKS6	OMIM:615382
HP:0000113	Polycystic kidney dysplasia	54903	MKS1	OMIM:249000
HP:0000113	Polycystic kidney dysplasia	5310	PKD1	OMIM:173900
HP:0000113	Polycystic kidney dysplasia	84314	TMEM107	OMIM:617562
HP:0000113	Polycystic kidney dysplasia	9652	SKIC3	ORPHA:84064
HP:0000113	Polycystic kidney dysplasia	6499	SKIC2	ORPHA:84064
HP:0000113	Polycystic kidney dysplasia	79867	TCTN2	OMIM:613885
HP:0000113	Polycystic kidney dysplasia	5193	PEX12	OMIM:614859
HP:0000113	Polycystic kidney dysplasia	2110	ETFDH	OMIM:231680
HP:0000113	Polycystic kidney dysplasia	2108	ETFA	OMIM:231680
HP:0000113	Polycystic kidney dysplasia	2109	ETFB	OMIM:231680
HP:0004717	Axial malrotation of the kidney	9939	RBM8A	ORPHA:3320
HP:0004717	Axial malrotation of the kidney	9939	RBM8A	OMIM:274000
HP:0000100	Nephrotic syndrome	9722	NOS1AP	OMIM:619155
HP:0000100	Nephrotic syndrome	4010	LMX1B	ORPHA:2614
HP:0000100	Nephrotic syndrome	4010	LMX1B	OMIM:161200
HP:0000100	Nephrotic syndrome	10785	WDR4	OMIM:618347
HP:0000100	Nephrotic syndrome	10785	WDR4	ORPHA:2065
HP:0000100	Nephrotic syndrome	55505	NOP10	OMIM:620425
HP:0000100	Nephrotic syndrome	57122	NUP107	OMIM:618348
HP:0000100	Nephrotic syndrome	57122	NUP107	OMIM:616730
HP:0000100	Nephrotic syndrome	57122	NUP107	ORPHA:2065
HP:0000100	Nephrotic syndrome	55746	NUP133	OMIM:618349
HP:0000100	Nephrotic syndrome	55746	NUP133	ORPHA:2065
HP:0000100	Nephrotic syndrome	6775	STAT4	ORPHA:93552
HP:0000100	Nephrotic syndrome	6696	SPP1	ORPHA:93552
HP:0000100	Nephrotic syndrome	6303	SAT1	ORPHA:93552
HP:0000100	Nephrotic syndrome	3654	IRAK1	ORPHA:93552
HP:0000100	Nephrotic syndrome	84942	WDR73	OMIM:251300
HP:0000100	Nephrotic syndrome	84942	WDR73	ORPHA:83472
HP:0000100	Nephrotic syndrome	84942	WDR73	ORPHA:2065
HP:0000100	Nephrotic syndrome	4311	MME	ORPHA:69063
HP:0000100	Nephrotic syndrome	4210	MEFV	OMIM:249100
HP:0000100	Nephrotic syndrome	4210	MEFV	ORPHA:342
HP:0000100	Nephrotic syndrome	396	ARHGDIA	OMIM:615244
HP:0000100	Nephrotic syndrome	25959	KANK2	OMIM:617783
HP:0000100	Nephrotic syndrome	9342	SNAP29	ORPHA:66631
HP:0000100	Nephrotic syndrome	65082	VPS33A	OMIM:617303
HP:0000100	Nephrotic syndrome	65082	VPS33A	ORPHA:505248
HP:0000100	Nephrotic syndrome	843	CASP10	OMIM:603909
HP:0000100	Nephrotic syndrome	9640	ZNF592	ORPHA:83472
HP:0000100	Nephrotic syndrome	3716	JAK1	OMIM:618999
HP:0000100	Nephrotic syndrome	8526	DGKE	OMIM:615008
HP:0000100	Nephrotic syndrome	1287	COL4A5	OMIM:301050
HP:0000100	Nephrotic syndrome	4868	NPHS1	OMIM:256300
HP:0000100	Nephrotic syndrome	4868	NPHS1	ORPHA:839
HP:0000100	Nephrotic syndrome	114548	NLRP3	ORPHA:575
HP:0000100	Nephrotic syndrome	7827	NPHS2	OMIM:600995
HP:0000100	Nephrotic syndrome	27235	COQ2	OMIM:607426
HP:0000100	Nephrotic syndrome	6786	STIM1	OMIM:612783
HP:0000100	Nephrotic syndrome	5921	RASA1	ORPHA:90307
HP:0000100	Nephrotic syndrome	3911	LAMA5	OMIM:620049
HP:0000100	Nephrotic syndrome	708	C1QBP	OMIM:617713
HP:0000100	Nephrotic syndrome	7490	WT1	OMIM:256370
HP:0000100	Nephrotic syndrome	7490	WT1	OMIM:194080
HP:0000100	Nephrotic syndrome	7490	WT1	OMIM:136680
HP:0000100	Nephrotic syndrome	7490	WT1	ORPHA:251510
HP:0000100	Nephrotic syndrome	7490	WT1	ORPHA:347
HP:0000100	Nephrotic syndrome	7490	WT1	ORPHA:220
HP:0000100	Nephrotic syndrome	3913	LAMB2	OMIM:609049
HP:0000100	Nephrotic syndrome	3913	LAMB2	OMIM:614199
HP:0000100	Nephrotic syndrome	2717	GLA	ORPHA:324
HP:0000100	Nephrotic syndrome	83480	PUS3	ORPHA:488627
HP:0000100	Nephrotic syndrome	79415	CYBC1	OMIM:618935
HP:0000100	Nephrotic syndrome	6662	SOX9	ORPHA:251510
HP:0000100	Nephrotic syndrome	6845	VAMP7	ORPHA:251510
HP:0000100	Nephrotic syndrome	51741	WWOX	ORPHA:251510
HP:0000100	Nephrotic syndrome	4214	MAP3K1	ORPHA:251510
HP:0000100	Nephrotic syndrome	2516	NR5A1	ORPHA:251510
HP:0000100	Nephrotic syndrome	57647	DHX37	ORPHA:251510
HP:0000100	Nephrotic syndrome	6736	SRY	ORPHA:251510
HP:0000100	Nephrotic syndrome	23414	ZFPM2	ORPHA:251510
HP:0000100	Nephrotic syndrome	190	NR0B1	ORPHA:251510
HP:0000100	Nephrotic syndrome	2626	GATA4	ORPHA:251510
HP:0000100	Nephrotic syndrome	950	SCARB2	OMIM:254900
HP:0000100	Nephrotic syndrome	55644	OSGEP	OMIM:617729
HP:0000100	Nephrotic syndrome	55644	OSGEP	ORPHA:2065
HP:0000100	Nephrotic syndrome	5373	PMM2	OMIM:212065
HP:0000100	Nephrotic syndrome	5373	PMM2	ORPHA:79318
HP:0000100	Nephrotic syndrome	2243	FGA	OMIM:105200
HP:0000100	Nephrotic syndrome	7225	TRPC6	OMIM:603965
HP:0000100	Nephrotic syndrome	92482	BBIP1	ORPHA:110
HP:0000100	Nephrotic syndrome	80184	CEP290	ORPHA:110
HP:0000100	Nephrotic syndrome	11020	IFT27	ORPHA:110
HP:0000100	Nephrotic syndrome	582	BBS1	ORPHA:110
HP:0000100	Nephrotic syndrome	49855	SCAPER	ORPHA:110
HP:0000100	Nephrotic syndrome	4867	NPHP1	ORPHA:110
HP:0000100	Nephrotic syndrome	51057	WDPCP	ORPHA:110
HP:0000100	Nephrotic syndrome	132320	SCLT1	ORPHA:110
HP:0000100	Nephrotic syndrome	27241	BBS9	ORPHA:110
HP:0000100	Nephrotic syndrome	84984	CEP19	ORPHA:110
HP:0000100	Nephrotic syndrome	22954	TRIM32	ORPHA:110
HP:0000100	Nephrotic syndrome	54903	MKS1	ORPHA:110
HP:0000100	Nephrotic syndrome	79738	BBS10	ORPHA:110
HP:0000100	Nephrotic syndrome	123016	TTC8	ORPHA:110
HP:0000100	Nephrotic syndrome	26160	IFT172	ORPHA:110
HP:0000100	Nephrotic syndrome	583	BBS2	ORPHA:110
HP:0000100	Nephrotic syndrome	585	BBS4	ORPHA:110
HP:0000100	Nephrotic syndrome	8195	MKKS	ORPHA:110
HP:0000100	Nephrotic syndrome	54585	LZTFL1	ORPHA:110
HP:0000100	Nephrotic syndrome	55212	BBS7	ORPHA:110
HP:0000100	Nephrotic syndrome	166379	BBS12	ORPHA:110
HP:0000100	Nephrotic syndrome	10806	SDCCAG8	ORPHA:110
HP:0000100	Nephrotic syndrome	157657	CFAP418	ORPHA:110
HP:0000100	Nephrotic syndrome	84100	ARL6	ORPHA:110
HP:0000100	Nephrotic syndrome	129880	BBS5	ORPHA:110
HP:0000100	Nephrotic syndrome	80173	IFT74	ORPHA:110
HP:0000100	Nephrotic syndrome	595	CCND1	ORPHA:29073
HP:0000100	Nephrotic syndrome	112858	TP53RK	OMIM:617730
HP:0000100	Nephrotic syndrome	112858	TP53RK	ORPHA:2065
HP:0000100	Nephrotic syndrome	8879	SGPL1	OMIM:617575
HP:0000100	Nephrotic syndrome	8270	LAGE3	OMIM:301006
HP:0000100	Nephrotic syndrome	8270	LAGE3	ORPHA:2065
HP:0000100	Nephrotic syndrome	5076	PAX2	OMIM:616002
HP:0000100	Nephrotic syndrome	1286	COL4A4	OMIM:203780
HP:0000100	Nephrotic syndrome	5580	PRKCD	OMIM:615559
HP:0000100	Nephrotic syndrome	5265	SERPINA1	ORPHA:60
HP:0000100	Nephrotic syndrome	718	C3	OMIM:613779
HP:0000100	Nephrotic syndrome	6023	RMRP	ORPHA:39041
HP:0000100	Nephrotic syndrome	55636	CHD7	ORPHA:39041
HP:0000100	Nephrotic syndrome	3981	LIG4	ORPHA:39041
HP:0000100	Nephrotic syndrome	5896	RAG1	ORPHA:39041
HP:0000100	Nephrotic syndrome	5897	RAG2	ORPHA:39041
HP:0000100	Nephrotic syndrome	64421	DCLRE1C	ORPHA:39041
HP:0000100	Nephrotic syndrome	100	ADA	ORPHA:39041
HP:0000100	Nephrotic syndrome	3575	IL7R	ORPHA:39041
HP:0000100	Nephrotic syndrome	3561	IL2RG	ORPHA:39041
HP:0000100	Nephrotic syndrome	2335	FN1	ORPHA:84090
HP:0000100	Nephrotic syndrome	2335	FN1	OMIM:601894
HP:0000100	Nephrotic syndrome	3675	ITGA3	OMIM:614748
HP:0000100	Nephrotic syndrome	56052	ALG1	ORPHA:79327
HP:0000100	Nephrotic syndrome	113189	CHST14	OMIM:601776
HP:0000100	Nephrotic syndrome	57169	ZNFX1	OMIM:619644
HP:0000100	Nephrotic syndrome	5800	PTPRO	OMIM:614196
HP:0000100	Nephrotic syndrome	6288	SAA1	ORPHA:85445
HP:0000100	Nephrotic syndrome	2625	GATA3	OMIM:146255
HP:0000100	Nephrotic syndrome	64135	IFIH1	OMIM:615846
HP:0000100	Nephrotic syndrome	50485	SMARCAL1	OMIM:242900
HP:0000100	Nephrotic syndrome	1736	DKC1	OMIM:301108
HP:0000100	Nephrotic syndrome	139818	DOCK11	OMIM:301109
HP:0000100	Nephrotic syndrome	4141	MARS1	ORPHA:401835
HP:0000100	Nephrotic syndrome	26503	SLC17A5	OMIM:269920
HP:0000100	Nephrotic syndrome	50943	FOXP3	ORPHA:37042
HP:0000100	Nephrotic syndrome	1285	COL4A3	OMIM:104200
HP:0000100	Nephrotic syndrome	1285	COL4A3	OMIM:620536
HP:0000100	Nephrotic syndrome	51196	PLCE1	OMIM:610725
HP:0000100	Nephrotic syndrome	29110	TBK1	OMIM:620880
HP:0000100	Nephrotic syndrome	54443	ANLN	OMIM:616032
HP:0000100	Nephrotic syndrome	4643	MYO1E	OMIM:614131
HP:0000100	Nephrotic syndrome	84823	LMNB2	OMIM:608709
HP:0000100	Nephrotic syndrome	2013	EMP2	OMIM:615861
HP:0000100	Nephrotic syndrome	7535	ZAP70	OMIM:617006
HP:0000100	Nephrotic syndrome	7535	ZAP70	ORPHA:911
HP:0000100	Nephrotic syndrome	57107	PDSS2	OMIM:614652
HP:0000100	Nephrotic syndrome	79693	YRDC	ORPHA:2065
HP:0000100	Nephrotic syndrome	51002	TPRKB	ORPHA:2065
HP:0000100	Nephrotic syndrome	84520	GON7	ORPHA:2065
HP:0000100	Nephrotic syndrome	81603	TRIM8	OMIM:619428
HP:0000100	Nephrotic syndrome	2934	GSN	OMIM:105120
HP:0000100	Nephrotic syndrome	7355	SLC35A2	ORPHA:356961
HP:0000100	Nephrotic syndrome	55243	KIRREL1	OMIM:619201
HP:0000100	Nephrotic syndrome	23279	NUP160	OMIM:618178
HP:0000100	Nephrotic syndrome	79934	COQ8B	OMIM:615573
HP:0000100	Nephrotic syndrome	23500	DAAM2	OMIM:619263
HP:0000100	Nephrotic syndrome	23165	NUP205	OMIM:616893
HP:0000100	Nephrotic syndrome	54885	TBC1D8B	OMIM:301028
HP:0000100	Nephrotic syndrome	51004	COQ6	OMIM:614650
HP:0000100	Nephrotic syndrome	9688	NUP93	OMIM:616892
HP:0000100	Nephrotic syndrome	79902	NUP85	OMIM:618176
HP:0000100	Nephrotic syndrome	10677	AVIL	OMIM:618594
HP:0000100	Nephrotic syndrome	286204	CRB2	OMIM:616220
HP:0000100	Nephrotic syndrome	9863	MAGI2	OMIM:617609
HP:0000100	Nephrotic syndrome	340533	NEXMIF	OMIM:300912
HP:0004719	Hyperechogenic kidneys	7369	UMOD	OMIM:162000
HP:0004719	Hyperechogenic kidneys	5972	REN	OMIM:613092
HP:0004719	Hyperechogenic kidneys	79989	IFT56	OMIM:619534
HP:0004719	Hyperechogenic kidneys	5314	PKHD1	OMIM:263200
HP:0004719	Hyperechogenic kidneys	57545	CC2D2A	OMIM:619111
HP:0004719	Hyperechogenic kidneys	54914	FOCAD	OMIM:619991
HP:0004719	Hyperechogenic kidneys	10463	SLC30A9	OMIM:617595
HP:0004719	Hyperechogenic kidneys	7468	NSD2	OMIM:619695
HP:0004719	Hyperechogenic kidneys	29927	SEC61A1	OMIM:617056
HP:0004719	Hyperechogenic kidneys	284086	NEK8	OMIM:620903
HP:0004719	Hyperechogenic kidneys	199221	DZIP1L	OMIM:617610
HP:0004719	Hyperechogenic kidneys	79848	CSPP1	OMIM:615636
HP:0004719	Hyperechogenic kidneys	79848	CSPP1	ORPHA:397715
HP:0004719	Hyperechogenic kidneys	9928	KIF14	OMIM:617914
HP:0004719	Hyperechogenic kidneys	63929	XPNPEP3	OMIM:613159
HP:0004719	Hyperechogenic kidneys	6091	ROBO1	OMIM:620305
HP:0004719	Hyperechogenic kidneys	10015	PDCD6IP	OMIM:620047
HP:0004719	Hyperechogenic kidneys	3913	LAMB2	OMIM:609049
HP:0004719	Hyperechogenic kidneys	84992	PIGY	OMIM:616809
HP:0004719	Hyperechogenic kidneys	286204	CRB2	OMIM:219730
HP:0004719	Hyperechogenic kidneys	81	ACTN4	OMIM:603278
HP:0004719	Hyperechogenic kidneys	9786	KIAA0586	ORPHA:397715
HP:0004719	Hyperechogenic kidneys	80114	BICC1	OMIM:601331
HP:0004719	Hyperechogenic kidneys	29071	C1GALT1C1	OMIM:301110
HP:0004719	Hyperechogenic kidneys	100147744	RNU7-1	OMIM:619487
HP:0004719	Hyperechogenic kidneys	5087	PBX1	OMIM:617641
HP:0004719	Hyperechogenic kidneys	112752	IFT43	OMIM:617866
HP:0004719	Hyperechogenic kidneys	57511	COG6	OMIM:614576
HP:0004719	Hyperechogenic kidneys	7289	TULP3	OMIM:619902
HP:0004719	Hyperechogenic kidneys	22858	CILK1	OMIM:612651
HP:0004719	Hyperechogenic kidneys	51473	DCDC2	ORPHA:84081
HP:0004719	Hyperechogenic kidneys	51473	DCDC2	OMIM:616217
HP:0004719	Hyperechogenic kidneys	91147	TMEM67	ORPHA:84081
HP:0004719	Hyperechogenic kidneys	79867	TCTN2	OMIM:613885
HP:0004719	Hyperechogenic kidneys	9096	TBX18	OMIM:143400
HP:0004719	Hyperechogenic kidneys	54938	SARS2	OMIM:613845
HP:0004719	Hyperechogenic kidneys	27130	INVS	OMIM:602088
HP:0004719	Hyperechogenic kidneys	93649	MYOCD	OMIM:618719
HP:0025548	Increased mean corpuscular hemoglobin concentration	3783	KCNN4	OMIM:616689
HP:0025548	Increased mean corpuscular hemoglobin concentration	3783	KCNN4	ORPHA:3202
HP:0025548	Increased mean corpuscular hemoglobin concentration	404672	GTF2H5	ORPHA:33364
HP:0025548	Increased mean corpuscular hemoglobin concentration	833	CARS1	ORPHA:33364
HP:0025548	Increased mean corpuscular hemoglobin concentration	2068	ERCC2	ORPHA:33364
HP:0025548	Increased mean corpuscular hemoglobin concentration	7737	RNF113A	ORPHA:33364
HP:0025548	Increased mean corpuscular hemoglobin concentration	136647	MPLKIP	ORPHA:33364
HP:0025548	Increased mean corpuscular hemoglobin concentration	6897	TARS1	ORPHA:33364
HP:0025548	Increased mean corpuscular hemoglobin concentration	16	AARS1	ORPHA:33364
HP:0025548	Increased mean corpuscular hemoglobin concentration	2071	ERCC3	ORPHA:33364
HP:0025548	Increased mean corpuscular hemoglobin concentration	2961	GTF2E2	ORPHA:33364
HP:0025548	Increased mean corpuscular hemoglobin concentration	9780	PIEZO1	OMIM:194380
HP:0025548	Increased mean corpuscular hemoglobin concentration	9780	PIEZO1	ORPHA:3202
HP:0025548	Increased mean corpuscular hemoglobin concentration	6521	SLC4A1	ORPHA:3202
HP:0025548	Increased mean corpuscular hemoglobin concentration	6521	SLC4A1	ORPHA:822
HP:0025548	Increased mean corpuscular hemoglobin concentration	2038	EPB42	ORPHA:822
HP:0025548	Increased mean corpuscular hemoglobin concentration	6710	SPTB	ORPHA:822
HP:0025548	Increased mean corpuscular hemoglobin concentration	6708	SPTA1	ORPHA:822
HP:0025548	Increased mean corpuscular hemoglobin concentration	286	ANK1	ORPHA:822
HP:0025549	Eccentric visual fixation	22926	ATF6	ORPHA:49382
HP:0025549	Eccentric visual fixation	5146	PDE6C	ORPHA:49382
HP:0025549	Eccentric visual fixation	6103	RPGR	ORPHA:49382
HP:0025549	Eccentric visual fixation	5149	PDE6H	ORPHA:49382
HP:0025549	Eccentric visual fixation	2780	GNAT2	ORPHA:49382
HP:0025549	Eccentric visual fixation	1261	CNGA3	ORPHA:49382
HP:0025549	Eccentric visual fixation	54714	CNGB3	ORPHA:49382
HP:0025549	Eccentric visual fixation	8481	OFD1	OMIM:300424
HP:0025549	Eccentric visual fixation	2652	OPN1MW	ORPHA:16
HP:0025549	Eccentric visual fixation	5956	OPN1LW	ORPHA:16
HP:0030843	Cardiac amyloidosis	7276	TTR	ORPHA:85451
HP:0030843	Cardiac amyloidosis	567	B2M	OMIM:620659
HP:0030843	Cardiac amyloidosis	567	B2M	ORPHA:314652
HP:0030843	Cardiac amyloidosis	335	APOA1	OMIM:620657
HP:0030843	Cardiac amyloidosis	2934	GSN	OMIM:105120
HP:0030843	Cardiac amyloidosis	6288	SAA1	ORPHA:85445
HP:0030842	Choking episodes	3064	HTT	ORPHA:399
HP:0030842	Choking episodes	6515	SLC2A3	ORPHA:399
HP:0030842	Choking episodes	374879	ZNF699	OMIM:619488
HP:0030842	Choking episodes	60482	SLC5A7	ORPHA:98914
HP:0030842	Choking episodes	4649	MYO9A	ORPHA:98914
HP:0030842	Choking episodes	1305	COL13A1	ORPHA:98914
HP:0030842	Choking episodes	1103	CHAT	ORPHA:98914
HP:0030842	Choking episodes	6576	SLC25A1	ORPHA:98914
HP:0030842	Choking episodes	6843	VAMP1	ORPHA:98914
HP:0030842	Choking episodes	375790	AGRN	ORPHA:98914
HP:0030842	Choking episodes	127833	SYT2	ORPHA:98914
HP:0030842	Choking episodes	6572	SLC18A3	ORPHA:98914
HP:0030842	Choking episodes	6616	SNAP25	ORPHA:98914
HP:0030842	Choking episodes	8398	PLA2G6	ORPHA:35069
HP:0030842	Choking episodes	773	CACNA1A	ORPHA:98758
HP:0030842	Choking episodes	1759	DNM1	OMIM:620352
HP:0030842	Choking episodes	6329	SCN4A	ORPHA:99734
HP:0030848	Elevated jugular venous pressure	659	BMPR2	OMIM:265450
HP:0030848	Elevated jugular venous pressure	654	BMP6	ORPHA:465508
HP:0030848	Elevated jugular venous pressure	3077	HFE	ORPHA:465508
HP:0030848	Elevated jugular venous pressure	4625	MYH7	OMIM:255160
HP:0030847	Abnormal jugular venous pressure	659	BMPR2	OMIM:265450
HP:0030847	Abnormal jugular venous pressure	654	BMP6	ORPHA:465508
HP:0030847	Abnormal jugular venous pressure	3077	HFE	ORPHA:465508
HP:0030847	Abnormal jugular venous pressure	4625	MYH7	OMIM:255160
HP:0030846	Abnormality of venous physiology	2153	F5	OMIM:600880
HP:0030846	Abnormality of venous physiology	3717	JAK2	OMIM:600880
HP:0030846	Abnormality of venous physiology	3717	JAK2	ORPHA:729
HP:0030846	Abnormality of venous physiology	3717	JAK2	OMIM:263300
HP:0030846	Abnormality of venous physiology	26277	TINF2	OMIM:127550
HP:0030846	Abnormality of venous physiology	7012	TERC	OMIM:127550
HP:0030846	Abnormality of venous physiology	7015	TERT	OMIM:127550
HP:0030846	Abnormality of venous physiology	1604	CD55	OMIM:226300
HP:0030846	Abnormality of venous physiology	5277	PIGA	ORPHA:447
HP:0030846	Abnormality of venous physiology	659	BMPR2	OMIM:265450
HP:0030846	Abnormality of venous physiology	654	BMP6	ORPHA:465508
HP:0030846	Abnormality of venous physiology	3077	HFE	ORPHA:465508
HP:0030846	Abnormality of venous physiology	4625	MYH7	OMIM:255160
HP:0030844	Undetectable pattern electroretinogram	83723	TLCD3B	OMIM:619531
HP:0030844	Undetectable pattern electroretinogram	23093	TTLL5	OMIM:615860
HP:0000642	Red-green dyschromatopsia	10002	NR2E3	OMIM:611131
HP:0000642	Red-green dyschromatopsia	4720	NDUFS2	OMIM:620569
HP:0000642	Red-green dyschromatopsia	256471	MFSD8	OMIM:616170
HP:0000642	Red-green dyschromatopsia	4976	OPA1	OMIM:125250
HP:0000642	Red-green dyschromatopsia	4976	OPA1	OMIM:165500
HP:0000642	Red-green dyschromatopsia	114902	C1QTNF5	ORPHA:67042
HP:0000642	Red-green dyschromatopsia	50	ACO2	OMIM:616289
HP:0000642	Red-green dyschromatopsia	80207	OPA3	ORPHA:67036
HP:0000642	Red-green dyschromatopsia	2259	FGF14	ORPHA:98764
HP:0000642	Red-green dyschromatopsia	5080	PAX6	ORPHA:250923
HP:0000642	Red-green dyschromatopsia	2296	FOXC1	ORPHA:250923
HP:0000642	Red-green dyschromatopsia	54765	TRIM44	ORPHA:250923
HP:0000642	Red-green dyschromatopsia	2652	OPN1MW	OMIM:303800
HP:0000642	Red-green dyschromatopsia	778	CACNA1F	OMIM:300600
HP:0000642	Red-green dyschromatopsia	5956	OPN1LW	OMIM:303900
HP:0025551	Optic nerve misrouting	146167	SLC38A8	OMIM:609218
HP:0025551	Optic nerve misrouting	4157	MC1R	ORPHA:79432
HP:0025551	Optic nerve misrouting	4948	OCA2	ORPHA:79432
HP:0025551	Optic nerve misrouting	7306	TYRP1	ORPHA:79433
HP:0025551	Optic nerve misrouting	51151	SLC45A2	ORPHA:79435
HP:0025553	Periorbital ecchymosis with tarsal plate sparing	4613	MYCN	ORPHA:635
HP:0025553	Periorbital ecchymosis with tarsal plate sparing	238	ALK	ORPHA:635
HP:0025553	Periorbital ecchymosis with tarsal plate sparing	389421	LIN28B	ORPHA:635
HP:0025553	Periorbital ecchymosis with tarsal plate sparing	4004	LMO1	ORPHA:635
HP:0025553	Periorbital ecchymosis with tarsal plate sparing	57531	HACE1	ORPHA:635
HP:0025553	Periorbital ecchymosis with tarsal plate sparing	8929	PHOX2B	ORPHA:635
HP:0030851	Low pulse pressure	213	ALB	ORPHA:86816
HP:0003774	Stage 5 chronic kidney disease	51726	DNAJB11	OMIM:618061
HP:0003774	Stage 5 chronic kidney disease	51726	DNAJB11	ORPHA:730
HP:0003774	Stage 5 chronic kidney disease	261734	NPHP4	OMIM:606996
HP:0003774	Stage 5 chronic kidney disease	261734	NPHP4	OMIM:606966
HP:0003774	Stage 5 chronic kidney disease	261734	NPHP4	ORPHA:3156
HP:0003774	Stage 5 chronic kidney disease	1497	CTNS	OMIM:219800
HP:0003774	Stage 5 chronic kidney disease	1497	CTNS	OMIM:219900
HP:0003774	Stage 5 chronic kidney disease	1497	CTNS	ORPHA:411634
HP:0003774	Stage 5 chronic kidney disease	9722	NOS1AP	OMIM:619155
HP:0003774	Stage 5 chronic kidney disease	92482	BBIP1	OMIM:615995
HP:0003774	Stage 5 chronic kidney disease	10806	SDCCAG8	OMIM:615993
HP:0003774	Stage 5 chronic kidney disease	10806	SDCCAG8	ORPHA:3156
HP:0003774	Stage 5 chronic kidney disease	4010	LMX1B	ORPHA:2614
HP:0003774	Stage 5 chronic kidney disease	4010	LMX1B	OMIM:256020
HP:0003774	Stage 5 chronic kidney disease	54585	LZTFL1	OMIM:615994
HP:0003774	Stage 5 chronic kidney disease	80184	CEP290	OMIM:610188
HP:0003774	Stage 5 chronic kidney disease	80184	CEP290	OMIM:610189
HP:0003774	Stage 5 chronic kidney disease	80184	CEP290	ORPHA:3156
HP:0003774	Stage 5 chronic kidney disease	57122	NUP107	OMIM:618348
HP:0003774	Stage 5 chronic kidney disease	57122	NUP107	OMIM:616730
HP:0003774	Stage 5 chronic kidney disease	57122	NUP107	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	6091	ROBO1	OMIM:620305
HP:0003774	Stage 5 chronic kidney disease	55746	NUP133	OMIM:618349
HP:0003774	Stage 5 chronic kidney disease	55746	NUP133	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	55746	NUP133	OMIM:618177
HP:0003774	Stage 5 chronic kidney disease	718	C3	OMIM:612925
HP:0003774	Stage 5 chronic kidney disease	4867	NPHP1	OMIM:609583
HP:0003774	Stage 5 chronic kidney disease	4867	NPHP1	OMIM:266900
HP:0003774	Stage 5 chronic kidney disease	4867	NPHP1	OMIM:256100
HP:0003774	Stage 5 chronic kidney disease	4867	NPHP1	ORPHA:3156
HP:0003774	Stage 5 chronic kidney disease	91147	TMEM67	OMIM:216360
HP:0003774	Stage 5 chronic kidney disease	91147	TMEM67	ORPHA:84081
HP:0003774	Stage 5 chronic kidney disease	91147	TMEM67	OMIM:613550
HP:0003774	Stage 5 chronic kidney disease	91147	TMEM67	OMIM:610688
HP:0003774	Stage 5 chronic kidney disease	4210	MEFV	OMIM:249100
HP:0003774	Stage 5 chronic kidney disease	396	ARHGDIA	OMIM:615244
HP:0003774	Stage 5 chronic kidney disease	396	ARHGDIA	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	1184	CLCN5	OMIM:300009
HP:0003774	Stage 5 chronic kidney disease	10677	AVIL	OMIM:618594
HP:0003774	Stage 5 chronic kidney disease	137682	NDUFAF6	OMIM:618913
HP:0003774	Stage 5 chronic kidney disease	137682	NDUFAF6	ORPHA:3337
HP:0003774	Stage 5 chronic kidney disease	23322	RPGRIP1L	OMIM:611560
HP:0003774	Stage 5 chronic kidney disease	23322	RPGRIP1L	OMIM:619113
HP:0003774	Stage 5 chronic kidney disease	10686	CLDN16	OMIM:248250
HP:0003774	Stage 5 chronic kidney disease	10847	SRCAP	ORPHA:2044
HP:0003774	Stage 5 chronic kidney disease	84520	GON7	OMIM:619603
HP:0003774	Stage 5 chronic kidney disease	8526	DGKE	OMIM:615008
HP:0003774	Stage 5 chronic kidney disease	51473	DCDC2	OMIM:616217
HP:0003774	Stage 5 chronic kidney disease	51473	DCDC2	ORPHA:84081
HP:0003774	Stage 5 chronic kidney disease	1287	COL4A5	OMIM:301050
HP:0003774	Stage 5 chronic kidney disease	1287	COL4A5	ORPHA:1018
HP:0003774	Stage 5 chronic kidney disease	977	CD151	OMIM:609057
HP:0003774	Stage 5 chronic kidney disease	79693	YRDC	OMIM:619609
HP:0003774	Stage 5 chronic kidney disease	4868	NPHS1	OMIM:256300
HP:0003774	Stage 5 chronic kidney disease	4868	NPHS1	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	2542	SLC37A4	ORPHA:79259
HP:0003774	Stage 5 chronic kidney disease	23607	CD2AP	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	9688	NUP93	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	9688	NUP93	OMIM:616892
HP:0003774	Stage 5 chronic kidney disease	4643	MYO1E	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	4643	MYO1E	OMIM:614131
HP:0003774	Stage 5 chronic kidney disease	64423	INF2	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	64423	INF2	OMIM:613237
HP:0003774	Stage 5 chronic kidney disease	64423	INF2	OMIM:614455
HP:0003774	Stage 5 chronic kidney disease	26130	GAPVD1	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	7490	WT1	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	7490	WT1	OMIM:194080
HP:0003774	Stage 5 chronic kidney disease	7490	WT1	OMIM:136680
HP:0003774	Stage 5 chronic kidney disease	51479	ANKFY1	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	54443	ANLN	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	54443	ANLN	OMIM:616032
HP:0003774	Stage 5 chronic kidney disease	5800	PTPRO	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	5800	PTPRO	OMIM:614196
HP:0003774	Stage 5 chronic kidney disease	286204	CRB2	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	23165	NUP205	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	23165	NUP205	OMIM:616893
HP:0003774	Stage 5 chronic kidney disease	2013	EMP2	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	79023	NUP37	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	51196	PLCE1	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	51196	PLCE1	OMIM:610725
HP:0003774	Stage 5 chronic kidney disease	79902	NUP85	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	79902	NUP85	OMIM:618176
HP:0003774	Stage 5 chronic kidney disease	1285	COL4A3	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	1285	COL4A3	OMIM:104200
HP:0003774	Stage 5 chronic kidney disease	1285	COL4A3	OMIM:620536
HP:0003774	Stage 5 chronic kidney disease	79934	COQ8B	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	79934	COQ8B	OMIM:615573
HP:0003774	Stage 5 chronic kidney disease	23279	NUP160	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	9863	MAGI2	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	9863	MAGI2	OMIM:617609
HP:0003774	Stage 5 chronic kidney disease	81	ACTN4	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	81	ACTN4	OMIM:603278
HP:0003774	Stage 5 chronic kidney disease	7225	TRPC6	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	7225	TRPC6	OMIM:603965
HP:0003774	Stage 5 chronic kidney disease	8542	APOL1	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	8542	APOL1	OMIM:612551
HP:0003774	Stage 5 chronic kidney disease	54885	TBC1D8B	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	54885	TBC1D8B	OMIM:301028
HP:0003774	Stage 5 chronic kidney disease	7827	NPHS2	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	7827	NPHS2	OMIM:600995
HP:0003774	Stage 5 chronic kidney disease	83478	ARHGAP24	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	23500	DAAM2	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	5076	PAX2	ORPHA:656
HP:0003774	Stage 5 chronic kidney disease	5076	PAX2	OMIM:616002
HP:0003774	Stage 5 chronic kidney disease	5076	PAX2	OMIM:120330
HP:0003774	Stage 5 chronic kidney disease	23193	GANAB	ORPHA:730
HP:0003774	Stage 5 chronic kidney disease	5310	PKD1	ORPHA:730
HP:0003774	Stage 5 chronic kidney disease	5311	PKD2	ORPHA:730
HP:0003774	Stage 5 chronic kidney disease	5311	PKD2	OMIM:613095
HP:0003774	Stage 5 chronic kidney disease	29880	ALG5	ORPHA:730
HP:0003774	Stage 5 chronic kidney disease	29880	ALG5	OMIM:620056
HP:0003774	Stage 5 chronic kidney disease	9742	IFT140	ORPHA:730
HP:0003774	Stage 5 chronic kidney disease	9742	IFT140	OMIM:266920
HP:0003774	Stage 5 chronic kidney disease	79796	ALG9	ORPHA:730
HP:0003774	Stage 5 chronic kidney disease	80114	BICC1	ORPHA:730
HP:0003774	Stage 5 chronic kidney disease	23005	MAPKBP1	OMIM:617271
HP:0003774	Stage 5 chronic kidney disease	6928	HNF1B	OMIM:137920
HP:0003774	Stage 5 chronic kidney disease	3911	LAMA5	OMIM:620049
HP:0003774	Stage 5 chronic kidney disease	26146	TRAF3IP1	OMIM:616629
HP:0003774	Stage 5 chronic kidney disease	26146	TRAF3IP1	ORPHA:3156
HP:0003774	Stage 5 chronic kidney disease	3913	LAMB2	OMIM:609049
HP:0003774	Stage 5 chronic kidney disease	3913	LAMB2	OMIM:614199
HP:0003774	Stage 5 chronic kidney disease	4594	MMUT	OMIM:251000
HP:0003774	Stage 5 chronic kidney disease	55764	IFT122	OMIM:218330
HP:0003774	Stage 5 chronic kidney disease	25778	DSTYK	OMIM:610805
HP:0003774	Stage 5 chronic kidney disease	54806	AHI1	OMIM:608629
HP:0003774	Stage 5 chronic kidney disease	9056	SLC7A7	OMIM:222700
HP:0003774	Stage 5 chronic kidney disease	55863	TMEM126B	OMIM:618250
HP:0003774	Stage 5 chronic kidney disease	27031	NPHP3	OMIM:267010
HP:0003774	Stage 5 chronic kidney disease	27031	NPHP3	OMIM:604387
HP:0003774	Stage 5 chronic kidney disease	27031	NPHP3	OMIM:208540
HP:0003774	Stage 5 chronic kidney disease	27031	NPHP3	ORPHA:3156
HP:0003774	Stage 5 chronic kidney disease	203286	ANKS6	OMIM:615382
HP:0003774	Stage 5 chronic kidney disease	254428	SLC41A1	OMIM:619468
HP:0003774	Stage 5 chronic kidney disease	149461	CLDN19	OMIM:248190
HP:0003774	Stage 5 chronic kidney disease	4582	MUC1	OMIM:174000
HP:0003774	Stage 5 chronic kidney disease	55644	OSGEP	OMIM:617729
HP:0003774	Stage 5 chronic kidney disease	27130	INVS	OMIM:602088
HP:0003774	Stage 5 chronic kidney disease	27130	INVS	ORPHA:3156
HP:0003774	Stage 5 chronic kidney disease	7840	ALMS1	ORPHA:64
HP:0003774	Stage 5 chronic kidney disease	7809	BSND	ORPHA:89938
HP:0003774	Stage 5 chronic kidney disease	1188	CLCNKB	ORPHA:89938
HP:0003774	Stage 5 chronic kidney disease	1187	CLCNKA	ORPHA:89938
HP:0003774	Stage 5 chronic kidney disease	10269	ZMPSTE24	OMIM:608612
HP:0003774	Stage 5 chronic kidney disease	112858	TP53RK	OMIM:617730
HP:0003774	Stage 5 chronic kidney disease	8879	SGPL1	OMIM:617575
HP:0003774	Stage 5 chronic kidney disease	8270	LAGE3	OMIM:301006
HP:0003774	Stage 5 chronic kidney disease	57545	CC2D2A	OMIM:612285
HP:0003774	Stage 5 chronic kidney disease	29927	SEC61A1	OMIM:617056
HP:0003774	Stage 5 chronic kidney disease	975	CD81	OMIM:613496
HP:0003774	Stage 5 chronic kidney disease	1286	COL4A4	OMIM:203780
HP:0003774	Stage 5 chronic kidney disease	284086	NEK8	OMIM:620903
HP:0003774	Stage 5 chronic kidney disease	284086	NEK8	OMIM:613824
HP:0003774	Stage 5 chronic kidney disease	51002	TPRKB	OMIM:617731
HP:0003774	Stage 5 chronic kidney disease	199221	DZIP1L	OMIM:617610
HP:0003774	Stage 5 chronic kidney disease	199221	DZIP1L	ORPHA:731
HP:0003774	Stage 5 chronic kidney disease	5580	PRKCD	OMIM:615559
HP:0003774	Stage 5 chronic kidney disease	54796	BNC2	ORPHA:93110
HP:0003774	Stage 5 chronic kidney disease	4952	OCRL	OMIM:309000
HP:0003774	Stage 5 chronic kidney disease	79809	TTC21B	OMIM:613819
HP:0003774	Stage 5 chronic kidney disease	79809	TTC21B	OMIM:613820
HP:0003774	Stage 5 chronic kidney disease	189	AGXT	ORPHA:93598
HP:0003774	Stage 5 chronic kidney disease	2335	FN1	OMIM:601894
HP:0003774	Stage 5 chronic kidney disease	100147744	RNU7-1	OMIM:619487
HP:0003774	Stage 5 chronic kidney disease	2934	GSN	ORPHA:85448
HP:0003774	Stage 5 chronic kidney disease	2934	GSN	OMIM:105120
HP:0003774	Stage 5 chronic kidney disease	50485	SMARCAL1	ORPHA:1830
HP:0003774	Stage 5 chronic kidney disease	50485	SMARCAL1	OMIM:242900
HP:0003774	Stage 5 chronic kidney disease	182	JAG1	OMIM:118450
HP:0003774	Stage 5 chronic kidney disease	10253	SPRY2	OMIM:616818
HP:0003774	Stage 5 chronic kidney disease	5314	PKHD1	ORPHA:731
HP:0003774	Stage 5 chronic kidney disease	93649	MYOCD	OMIM:618719
HP:0003774	Stage 5 chronic kidney disease	353	APRT	ORPHA:976
HP:0003774	Stage 5 chronic kidney disease	9657	IQCB1	OMIM:609254
HP:0003774	Stage 5 chronic kidney disease	9657	IQCB1	ORPHA:3156
HP:0003774	Stage 5 chronic kidney disease	1962	EHHADH	ORPHA:3337
HP:0003774	Stage 5 chronic kidney disease	2628	GATM	ORPHA:3337
HP:0003774	Stage 5 chronic kidney disease	6569	SLC34A1	ORPHA:3337
HP:0003774	Stage 5 chronic kidney disease	7369	UMOD	OMIM:162000
HP:0003774	Stage 5 chronic kidney disease	5889	RAD51C	OMIM:613390
HP:0003774	Stage 5 chronic kidney disease	79989	IFT56	OMIM:619534
HP:0003774	Stage 5 chronic kidney disease	50484	RRM2B	OMIM:268315
HP:0003774	Stage 5 chronic kidney disease	57728	WDR19	OMIM:616307
HP:0003774	Stage 5 chronic kidney disease	57728	WDR19	OMIM:614378
HP:0003774	Stage 5 chronic kidney disease	57728	WDR19	OMIM:614376
HP:0003774	Stage 5 chronic kidney disease	57728	WDR19	OMIM:614377
HP:0003774	Stage 5 chronic kidney disease	57728	WDR19	ORPHA:3156
HP:0003774	Stage 5 chronic kidney disease	63929	XPNPEP3	OMIM:613159
HP:0003774	Stage 5 chronic kidney disease	3458	IFNG	ORPHA:805
HP:0003774	Stage 5 chronic kidney disease	7248	TSC1	ORPHA:805
HP:0003774	Stage 5 chronic kidney disease	7249	TSC2	ORPHA:805
HP:0003774	Stage 5 chronic kidney disease	84662	GLIS2	OMIM:611498
HP:0003774	Stage 5 chronic kidney disease	1376	CPT2	ORPHA:228302
HP:0003774	Stage 5 chronic kidney disease	64127	NOD2	ORPHA:90340
HP:0003774	Stage 5 chronic kidney disease	81494	CFHR5	OMIM:614809
HP:0003774	Stage 5 chronic kidney disease	112752	IFT43	OMIM:614099
HP:0003774	Stage 5 chronic kidney disease	51004	COQ6	OMIM:614650
HP:0003774	Stage 5 chronic kidney disease	4069	LYZ	OMIM:620658
HP:0003774	Stage 5 chronic kidney disease	51134	CEP83	OMIM:615862
HP:0003774	Stage 5 chronic kidney disease	335	APOA1	OMIM:620657
HP:0003774	Stage 5 chronic kidney disease	9935	MAFB	OMIM:166300
HP:0003774	Stage 5 chronic kidney disease	22897	CEP164	ORPHA:3156
HP:0003774	Stage 5 chronic kidney disease	22909	FAN1	OMIM:614817
HP:0003774	Stage 5 chronic kidney disease	1288	COL4A6	ORPHA:1018
HP:0000110	Renal dysplasia	9949	AMMECR1	OMIM:300990
HP:0000110	Renal dysplasia	2737	GLI3	ORPHA:672
HP:0000110	Renal dysplasia	2737	GLI3	OMIM:146510
HP:0000110	Renal dysplasia	83483	PLVAP	OMIM:618183
HP:0000110	Renal dysplasia	79659	DYNC2H1	OMIM:613091
HP:0000110	Renal dysplasia	4613	MYCN	ORPHA:391641
HP:0000110	Renal dysplasia	65250	CPLANE1	OMIM:277170
HP:0000110	Renal dysplasia	2138	EYA1	OMIM:113650
HP:0000110	Renal dysplasia	6495	SIX1	OMIM:113650
HP:0000110	Renal dysplasia	5339	PLEC	ORPHA:158684
HP:0000110	Renal dysplasia	3691	ITGB4	ORPHA:158684
HP:0000110	Renal dysplasia	3691	ITGB4	ORPHA:79403
HP:0000110	Renal dysplasia	51604	PIGT	ORPHA:369837
HP:0000110	Renal dysplasia	29927	SEC61A1	OMIM:617056
HP:0000110	Renal dysplasia	10806	SDCCAG8	OMIM:615993
HP:0000110	Renal dysplasia	8239	USP9X	ORPHA:480880
HP:0000110	Renal dysplasia	8239	USP9X	OMIM:300968
HP:0000110	Renal dysplasia	6608	SMO	OMIM:241800
HP:0000110	Renal dysplasia	55165	CEP55	OMIM:236500
HP:0000110	Renal dysplasia	8626	TP63	OMIM:604292
HP:0000110	Renal dysplasia	54361	WNT4	ORPHA:2578
HP:0000110	Renal dysplasia	6928	HNF1B	ORPHA:2578
HP:0000110	Renal dysplasia	3655	ITGA6	ORPHA:79403
HP:0000110	Renal dysplasia	79848	CSPP1	ORPHA:397715
HP:0000110	Renal dysplasia	9786	KIAA0586	ORPHA:397715
HP:0000110	Renal dysplasia	2887	GRB10	ORPHA:96182
HP:0000110	Renal dysplasia	80114	BICC1	OMIM:601331
HP:0000110	Renal dysplasia	51360	MBTPS2	OMIM:308205
HP:0000110	Renal dysplasia	51360	MBTPS2	ORPHA:85284
HP:0000110	Renal dysplasia	7707	ZNF148	OMIM:617260
HP:0000110	Renal dysplasia	6299	SALL1	OMIM:107480
HP:0000110	Renal dysplasia	170302	ARX	OMIM:300004
HP:0000110	Renal dysplasia	170302	ARX	ORPHA:2508
HP:0000110	Renal dysplasia	170302	ARX	ORPHA:1934
HP:0000110	Renal dysplasia	27031	NPHP3	OMIM:208540
HP:0000110	Renal dysplasia	27031	NPHP3	ORPHA:3032
HP:0000110	Renal dysplasia	10229	COQ7	OMIM:616733
HP:0000110	Renal dysplasia	9158	FIBP	OMIM:617107
HP:0000110	Renal dysplasia	2625	GATA3	OMIM:146255
HP:0000110	Renal dysplasia	2625	GATA3	ORPHA:2237
HP:0000110	Renal dysplasia	5076	PAX2	ORPHA:1475
HP:0000110	Renal dysplasia	182	JAG1	OMIM:118450
HP:0000110	Renal dysplasia	29954	POMT2	OMIM:236670
HP:0000110	Renal dysplasia	79147	FKRP	OMIM:236670
HP:0000110	Renal dysplasia	2218	FKTN	OMIM:236670
HP:0000110	Renal dysplasia	10585	POMT1	OMIM:236670
HP:0000110	Renal dysplasia	9215	LARGE1	OMIM:236670
HP:0000110	Renal dysplasia	1376	CPT2	OMIM:608836
HP:0000110	Renal dysplasia	23556	PIGN	OMIM:614080
HP:0000110	Renal dysplasia	55005	RMND1	OMIM:614922
HP:0000110	Renal dysplasia	6899	TBX1	OMIM:188400
HP:0000110	Renal dysplasia	9742	IFT140	OMIM:266920
HP:0000110	Renal dysplasia	8516	ITGA8	OMIM:191830
HP:0000110	Renal dysplasia	5087	PBX1	OMIM:617641
HP:0000110	Renal dysplasia	26173	INTS1	OMIM:618571
HP:0000110	Renal dysplasia	123016	TTC8	OMIM:615985
HP:0000110	Renal dysplasia	147912	SIX5	OMIM:610896
HP:0000110	Renal dysplasia	63895	PIEZO2	ORPHA:2461
HP:0000110	Renal dysplasia	9096	TBX18	OMIM:143400
HP:0000110	Renal dysplasia	80000	GREB1L	OMIM:617805
HP:0000110	Renal dysplasia	6792	CDKL5	ORPHA:1934
HP:0000110	Renal dysplasia	3736	KCNA1	ORPHA:1934
HP:0000110	Renal dysplasia	9091	PIGQ	ORPHA:1934
HP:0000110	Renal dysplasia	140679	SLC32A1	ORPHA:1934
HP:0000110	Renal dysplasia	2775	GNAO1	ORPHA:1934
HP:0000110	Renal dysplasia	81603	TRIM8	ORPHA:1934
HP:0000110	Renal dysplasia	2902	GRIN1	ORPHA:1934
HP:0000110	Renal dysplasia	79751	SLC25A22	ORPHA:1934
HP:0000110	Renal dysplasia	150094	SIK1	ORPHA:1934
HP:0000110	Renal dysplasia	8573	CASK	ORPHA:1934
HP:0000110	Renal dysplasia	23312	DMXL2	ORPHA:1934
HP:0000110	Renal dysplasia	2917	GRM7	ORPHA:1934
HP:0000110	Renal dysplasia	11284	PNKP	ORPHA:1934
HP:0000110	Renal dysplasia	6326	SCN2A	ORPHA:1934
HP:0000110	Renal dysplasia	51227	PIGP	ORPHA:1934
HP:0000110	Renal dysplasia	6324	SCN1B	ORPHA:1934
HP:0000110	Renal dysplasia	4761	NEUROD2	ORPHA:1934
HP:0000110	Renal dysplasia	8085	KMT2D	OMIM:147920
HP:0000110	Renal dysplasia	7403	KDM6A	OMIM:147920
HP:0000110	Renal dysplasia	54796	BNC2	ORPHA:93110
HP:0000110	Renal dysplasia	374879	ZNF699	OMIM:619488
HP:0000110	Renal dysplasia	6651	SON	ORPHA:500150
HP:0004722	Thickened glomerular basement membrane	3075	CFH	OMIM:609814
HP:0004722	Thickened glomerular basement membrane	7369	UMOD	OMIM:162000
HP:0004722	Thickened glomerular basement membrane	100147744	RNU7-1	OMIM:619487
HP:0004722	Thickened glomerular basement membrane	9722	NOS1AP	OMIM:619155
HP:0004722	Thickened glomerular basement membrane	1286	COL4A4	OMIM:203780
HP:0004722	Thickened glomerular basement membrane	4010	LMX1B	ORPHA:2614
HP:0004722	Thickened glomerular basement membrane	2625	GATA3	OMIM:146255
HP:0004722	Thickened glomerular basement membrane	51134	CEP83	OMIM:615862
HP:0004722	Thickened glomerular basement membrane	8526	DGKE	OMIM:615008
HP:0004722	Thickened glomerular basement membrane	1285	COL4A3	OMIM:104200
HP:0004722	Thickened glomerular basement membrane	1287	COL4A5	OMIM:301050
HP:0004722	Thickened glomerular basement membrane	977	CD151	OMIM:609057
HP:0000083	Renal insufficiency	26191	PTPN22	ORPHA:397
HP:0000083	Renal insufficiency	26191	PTPN22	ORPHA:900
HP:0000083	Renal insufficiency	3106	HLA-B	ORPHA:397
HP:0000083	Renal insufficiency	3106	HLA-B	ORPHA:117
HP:0000083	Renal insufficiency	3106	HLA-B	ORPHA:36426
HP:0000083	Renal insufficiency	3123	HLA-DRB1	ORPHA:397
HP:0000083	Renal insufficiency	3123	HLA-DRB1	ORPHA:797
HP:0000083	Renal insufficiency	3123	HLA-DRB1	ORPHA:220393
HP:0000083	Renal insufficiency	8974	P4HA2	ORPHA:397
HP:0000083	Renal insufficiency	51726	DNAJB11	OMIM:618061
HP:0000083	Renal insufficiency	51726	DNAJB11	ORPHA:730
HP:0000083	Renal insufficiency	4594	MMUT	ORPHA:289916
HP:0000083	Renal insufficiency	4594	MMUT	ORPHA:79312
HP:0000083	Renal insufficiency	1497	CTNS	OMIM:219800
HP:0000083	Renal insufficiency	1497	CTNS	ORPHA:411634
HP:0000083	Renal insufficiency	355	FAS	ORPHA:3261
HP:0000083	Renal insufficiency	355	FAS	ORPHA:117
HP:0000083	Renal insufficiency	356	FASLG	ORPHA:3261
HP:0000083	Renal insufficiency	843	CASP10	ORPHA:3261
HP:0000083	Renal insufficiency	9860	LRIG2	OMIM:615112
HP:0000083	Renal insufficiency	9860	LRIG2	ORPHA:2704
HP:0000083	Renal insufficiency	8518	ELP1	ORPHA:1764
HP:0000083	Renal insufficiency	4010	LMX1B	ORPHA:2613
HP:0000083	Renal insufficiency	4010	LMX1B	ORPHA:2614
HP:0000083	Renal insufficiency	4010	LMX1B	OMIM:161200
HP:0000083	Renal insufficiency	4010	LMX1B	OMIM:256020
HP:0000083	Renal insufficiency	1161	ERCC8	ORPHA:90324
HP:0000083	Renal insufficiency	1161	ERCC8	ORPHA:90321
HP:0000083	Renal insufficiency	1161	ERCC8	OMIM:216400
HP:0000083	Renal insufficiency	2074	ERCC6	ORPHA:90324
HP:0000083	Renal insufficiency	2074	ERCC6	ORPHA:90321
HP:0000083	Renal insufficiency	2074	ERCC6	OMIM:133540
HP:0000083	Renal insufficiency	5631	PRPS1	ORPHA:411543
HP:0000083	Renal insufficiency	5631	PRPS1	ORPHA:411536
HP:0000083	Renal insufficiency	5631	PRPS1	OMIM:300661
HP:0000083	Renal insufficiency	57539	WDR35	OMIM:613610
HP:0000083	Renal insufficiency	3209	HOXA13	OMIM:140000
HP:0000083	Renal insufficiency	84942	WDR73	OMIM:251300
HP:0000083	Renal insufficiency	84942	WDR73	ORPHA:83472
HP:0000083	Renal insufficiency	1131	CHRM3	ORPHA:2970
HP:0000083	Renal insufficiency	1184	CLCN5	OMIM:308990
HP:0000083	Renal insufficiency	1184	CLCN5	OMIM:300009
HP:0000083	Renal insufficiency	1184	CLCN5	OMIM:300554
HP:0000083	Renal insufficiency	1184	CLCN5	OMIM:310468
HP:0000083	Renal insufficiency	81839	VANGL1	ORPHA:3027
HP:0000083	Renal insufficiency	80199	FUZ	ORPHA:3027
HP:0000083	Renal insufficiency	91147	TMEM67	OMIM:602152
HP:0000083	Renal insufficiency	91147	TMEM67	OMIM:615991
HP:0000083	Renal insufficiency	91147	TMEM67	ORPHA:1454
HP:0000083	Renal insufficiency	2072	ERCC4	ORPHA:90321
HP:0000083	Renal insufficiency	2072	ERCC4	ORPHA:84
HP:0000083	Renal insufficiency	2072	ERCC4	OMIM:610965
HP:0000083	Renal insufficiency	4867	NPHP1	OMIM:609583
HP:0000083	Renal insufficiency	4867	NPHP1	OMIM:266900
HP:0000083	Renal insufficiency	4867	NPHP1	ORPHA:220497
HP:0000083	Renal insufficiency	64324	NSD1	ORPHA:821
HP:0000083	Renal insufficiency	10297	APC2	ORPHA:821
HP:0000083	Renal insufficiency	79848	CSPP1	ORPHA:397715
HP:0000083	Renal insufficiency	9786	KIAA0586	ORPHA:397715
HP:0000083	Renal insufficiency	6519	SLC3A1	OMIM:220100
HP:0000083	Renal insufficiency	11136	SLC7A9	OMIM:220100
HP:0000083	Renal insufficiency	23607	CD2AP	OMIM:607832
HP:0000083	Renal insufficiency	4312	MMP1	ORPHA:79408
HP:0000083	Renal insufficiency	1294	COL7A1	ORPHA:79408
HP:0000083	Renal insufficiency	79577	CDC73	ORPHA:143
HP:0000083	Renal insufficiency	79577	CDC73	ORPHA:99880
HP:0000083	Renal insufficiency	79577	CDC73	ORPHA:99879
HP:0000083	Renal insufficiency	4311	MME	ORPHA:69063
HP:0000083	Renal insufficiency	9380	GRHPR	OMIM:260000
HP:0000083	Renal insufficiency	9380	GRHPR	ORPHA:93599
HP:0000083	Renal insufficiency	23322	RPGRIP1L	ORPHA:220497
HP:0000083	Renal insufficiency	23322	RPGRIP1L	ORPHA:1454
HP:0000083	Renal insufficiency	23322	RPGRIP1L	OMIM:619113
HP:0000083	Renal insufficiency	65062	TMEM237	ORPHA:220497
HP:0000083	Renal insufficiency	65062	TMEM237	ORPHA:2318
HP:0000083	Renal insufficiency	79947	DHDDS	OMIM:613861
HP:0000083	Renal insufficiency	9640	ZNF592	ORPHA:83472
HP:0000083	Renal insufficiency	10686	CLDN16	OMIM:248250
HP:0000083	Renal insufficiency	6523	SLC5A1	ORPHA:35710
HP:0000083	Renal insufficiency	9382	COG1	OMIM:611209
HP:0000083	Renal insufficiency	4868	NPHS1	OMIM:256300
HP:0000083	Renal insufficiency	55034	MOCOS	OMIM:603592
HP:0000083	Renal insufficiency	23193	GANAB	ORPHA:730
HP:0000083	Renal insufficiency	5310	PKD1	ORPHA:730
HP:0000083	Renal insufficiency	5310	PKD1	OMIM:173900
HP:0000083	Renal insufficiency	5311	PKD2	ORPHA:730
HP:0000083	Renal insufficiency	5311	PKD2	OMIM:613095
HP:0000083	Renal insufficiency	29880	ALG5	ORPHA:730
HP:0000083	Renal insufficiency	29880	ALG5	OMIM:620056
HP:0000083	Renal insufficiency	9742	IFT140	ORPHA:730
HP:0000083	Renal insufficiency	9742	IFT140	ORPHA:474
HP:0000083	Renal insufficiency	79796	ALG9	ORPHA:730
HP:0000083	Renal insufficiency	80114	BICC1	ORPHA:730
HP:0000083	Renal insufficiency	80114	BICC1	OMIM:601331
HP:0000083	Renal insufficiency	9071	CLDN10	OMIM:617671
HP:0000083	Renal insufficiency	81693	AMN	OMIM:618882
HP:0000083	Renal insufficiency	3043	HBB	OMIM:603903
HP:0000083	Renal insufficiency	8029	CUBN	OMIM:618884
HP:0000083	Renal insufficiency	2859	GPR35	ORPHA:171
HP:0000083	Renal insufficiency	10507	SEMA4D	ORPHA:171
HP:0000083	Renal insufficiency	4485	MST1	ORPHA:171
HP:0000083	Renal insufficiency	6925	TCF4	ORPHA:171
HP:0000083	Renal insufficiency	54757	FAM20A	OMIM:204690
HP:0000083	Renal insufficiency	54757	FAM20A	ORPHA:1031
HP:0000083	Renal insufficiency	353	APRT	OMIM:614723
HP:0000083	Renal insufficiency	353	APRT	ORPHA:976
HP:0000083	Renal insufficiency	412	STS	ORPHA:281090
HP:0000083	Renal insufficiency	7840	ALMS1	OMIM:203800
HP:0000083	Renal insufficiency	672	BRCA1	ORPHA:84
HP:0000083	Renal insufficiency	10459	MAD2L2	ORPHA:84
HP:0000083	Renal insufficiency	7516	XRCC2	ORPHA:84
HP:0000083	Renal insufficiency	29089	UBE2T	ORPHA:84
HP:0000083	Renal insufficiency	675	BRCA2	ORPHA:84
HP:0000083	Renal insufficiency	55120	FANCL	ORPHA:84
HP:0000083	Renal insufficiency	2177	FANCD2	ORPHA:84
HP:0000083	Renal insufficiency	2175	FANCA	ORPHA:84
HP:0000083	Renal insufficiency	2187	FANCB	ORPHA:84
HP:0000083	Renal insufficiency	2176	FANCC	ORPHA:84
HP:0000083	Renal insufficiency	2178	FANCE	ORPHA:84
HP:0000083	Renal insufficiency	2188	FANCF	ORPHA:84
HP:0000083	Renal insufficiency	2189	FANCG	ORPHA:84
HP:0000083	Renal insufficiency	5888	RAD51	ORPHA:84
HP:0000083	Renal insufficiency	5889	RAD51C	ORPHA:84
HP:0000083	Renal insufficiency	55159	RFWD3	ORPHA:84
HP:0000083	Renal insufficiency	83990	BRIP1	ORPHA:84
HP:0000083	Renal insufficiency	57697	FANCM	ORPHA:84
HP:0000083	Renal insufficiency	79728	PALB2	ORPHA:84
HP:0000083	Renal insufficiency	84464	SLX4	ORPHA:84
HP:0000083	Renal insufficiency	55215	FANCI	ORPHA:84
HP:0000083	Renal insufficiency	6899	TBX1	OMIM:188400
HP:0000083	Renal insufficiency	1175	AP2S1	OMIM:600740
HP:0000083	Renal insufficiency	203286	ANKS6	OMIM:615382
HP:0000083	Renal insufficiency	5224	PGAM2	OMIM:261670
HP:0000083	Renal insufficiency	60495	HPSE2	ORPHA:2704
HP:0000083	Renal insufficiency	950	SCARB2	OMIM:254900
HP:0000083	Renal insufficiency	9096	TBX18	OMIM:143400
HP:0000083	Renal insufficiency	5230	PGK1	ORPHA:713
HP:0000083	Renal insufficiency	5230	PGK1	OMIM:300653
HP:0000083	Renal insufficiency	3265	HRAS	OMIM:218040
HP:0000083	Renal insufficiency	5080	PAX6	OMIM:194072
HP:0000083	Renal insufficiency	7490	WT1	OMIM:194072
HP:0000083	Renal insufficiency	7490	WT1	ORPHA:347
HP:0000083	Renal insufficiency	7490	WT1	OMIM:256370
HP:0000083	Renal insufficiency	54345	SOX18	OMIM:137940
HP:0000083	Renal insufficiency	9851	KIAA0753	ORPHA:474
HP:0000083	Renal insufficiency	55112	DYNC2I1	ORPHA:474
HP:0000083	Renal insufficiency	26160	IFT172	ORPHA:474
HP:0000083	Renal insufficiency	153241	CEP120	ORPHA:474
HP:0000083	Renal insufficiency	57560	IFT80	ORPHA:474
HP:0000083	Renal insufficiency	51626	DYNC2LI1	ORPHA:474
HP:0000083	Renal insufficiency	79659	DYNC2H1	ORPHA:474
HP:0000083	Renal insufficiency	57728	WDR19	ORPHA:474
HP:0000083	Renal insufficiency	89891	DYNC2I2	ORPHA:474
HP:0000083	Renal insufficiency	79809	TTC21B	ORPHA:474
HP:0000083	Renal insufficiency	1187	CLCNKA	OMIM:613090
HP:0000083	Renal insufficiency	1188	CLCNKB	OMIM:613090
HP:0000083	Renal insufficiency	5314	PKHD1	OMIM:263200
HP:0000083	Renal insufficiency	5314	PKHD1	ORPHA:731
HP:0000083	Renal insufficiency	114548	NLRP3	OMIM:191900
HP:0000083	Renal insufficiency	10908	PNPLA6	ORPHA:2377
HP:0000083	Renal insufficiency	2321	FLT1	ORPHA:275555
HP:0000083	Renal insufficiency	219736	STOX1	ORPHA:275555
HP:0000083	Renal insufficiency	10699	CORIN	ORPHA:275555
HP:0000083	Renal insufficiency	1282	COL4A1	ORPHA:73229
HP:0000083	Renal insufficiency	1282	COL4A1	OMIM:611773
HP:0000083	Renal insufficiency	6804	STX1A	ORPHA:904
HP:0000083	Renal insufficiency	7461	CLIP2	ORPHA:904
HP:0000083	Renal insufficiency	84277	DNAJC30	ORPHA:904
HP:0000083	Renal insufficiency	8468	FKBP6	ORPHA:904
HP:0000083	Renal insufficiency	5982	RFC2	ORPHA:904
HP:0000083	Renal insufficiency	2969	GTF2I	ORPHA:904
HP:0000083	Renal insufficiency	3984	LIMK1	ORPHA:904
HP:0000083	Renal insufficiency	9569	GTF2IRD1	ORPHA:904
HP:0000083	Renal insufficiency	155382	VPS37D	ORPHA:904
HP:0000083	Renal insufficiency	155368	METTL27	ORPHA:904
HP:0000083	Renal insufficiency	114049	BUD23	ORPHA:904
HP:0000083	Renal insufficiency	7458	EIF4H	ORPHA:904
HP:0000083	Renal insufficiency	84163	GTF2IRD2	ORPHA:904
HP:0000083	Renal insufficiency	26608	TBL2	ORPHA:904
HP:0000083	Renal insufficiency	653361	NCF1	ORPHA:904
HP:0000083	Renal insufficiency	135886	TMEM270	ORPHA:904
HP:0000083	Renal insufficiency	9031	BAZ1B	ORPHA:904
HP:0000083	Renal insufficiency	2006	ELN	ORPHA:904
HP:0000083	Renal insufficiency	2006	ELN	OMIM:194050
HP:0000083	Renal insufficiency	718	C3	OMIM:613779
HP:0000083	Renal insufficiency	1493	CTLA4	ORPHA:900
HP:0000083	Renal insufficiency	3115	HLA-DPB1	ORPHA:900
HP:0000083	Renal insufficiency	5657	PRTN3	ORPHA:900
HP:0000083	Renal insufficiency	3113	HLA-DPA1	ORPHA:900
HP:0000083	Renal insufficiency	8659	ALDH4A1	ORPHA:79101
HP:0000083	Renal insufficiency	3675	ITGA3	OMIM:614748
HP:0000083	Renal insufficiency	4952	OCRL	OMIM:309000
HP:0000083	Renal insufficiency	4952	OCRL	ORPHA:534
HP:0000083	Renal insufficiency	2138	EYA1	ORPHA:107
HP:0000083	Renal insufficiency	147912	SIX5	ORPHA:107
HP:0000083	Renal insufficiency	147912	SIX5	OMIM:610896
HP:0000083	Renal insufficiency	6495	SIX1	ORPHA:107
HP:0000083	Renal insufficiency	229	ALDOB	ORPHA:469
HP:0000083	Renal insufficiency	56052	ALG1	ORPHA:79327
HP:0000083	Renal insufficiency	554	AVPR2	ORPHA:223
HP:0000083	Renal insufficiency	359	AQP2	ORPHA:223
HP:0000083	Renal insufficiency	3931	LCAT	OMIM:245900
HP:0000083	Renal insufficiency	331	XIAP	ORPHA:538934
HP:0000083	Renal insufficiency	3251	HPRT1	OMIM:300323
HP:0000083	Renal insufficiency	3251	HPRT1	ORPHA:79233
HP:0000083	Renal insufficiency	3251	HPRT1	ORPHA:510
HP:0000083	Renal insufficiency	130340	AP1S3	ORPHA:247353
HP:0000083	Renal insufficiency	26525	IL36RN	ORPHA:247353
HP:0000083	Renal insufficiency	57169	ZNFX1	OMIM:619644
HP:0000083	Renal insufficiency	3913	LAMB2	OMIM:614199
HP:0000083	Renal insufficiency	6288	SAA1	ORPHA:85445
HP:0000083	Renal insufficiency	92002	CCNQ	ORPHA:140952
HP:0000083	Renal insufficiency	84033	OBSCN	ORPHA:99845
HP:0000083	Renal insufficiency	84033	OBSCN	OMIM:620235
HP:0000083	Renal insufficiency	23175	LPIN1	ORPHA:99845
HP:0000083	Renal insufficiency	4512	MT-CO1	ORPHA:99845
HP:0000083	Renal insufficiency	4514	MT-CO3	ORPHA:99845
HP:0000083	Renal insufficiency	1962	EHHADH	OMIM:615605
HP:0000083	Renal insufficiency	51085	MLXIPL	OMIM:194050
HP:0000083	Renal insufficiency	9968	MED12	OMIM:301068
HP:0000083	Renal insufficiency	7369	UMOD	OMIM:162000
HP:0000083	Renal insufficiency	811	CALR	ORPHA:131
HP:0000083	Renal insufficiency	3717	JAK2	ORPHA:131
HP:0000083	Renal insufficiency	2153	F5	ORPHA:131
HP:0000083	Renal insufficiency	79989	IFT56	OMIM:619534
HP:0000083	Renal insufficiency	2717	GLA	OMIM:301500
HP:0000083	Renal insufficiency	2717	GLA	ORPHA:324
HP:0000083	Renal insufficiency	4193	MDM2	OMIM:618681
HP:0000083	Renal insufficiency	10463	SLC30A9	OMIM:617595
HP:0000083	Renal insufficiency	2625	GATA3	ORPHA:2237
HP:0000083	Renal insufficiency	54916	TMEM260	OMIM:617478
HP:0000083	Renal insufficiency	3458	IFNG	ORPHA:805
HP:0000083	Renal insufficiency	7248	TSC1	ORPHA:805
HP:0000083	Renal insufficiency	7249	TSC2	ORPHA:805
HP:0000083	Renal insufficiency	2184	FAH	OMIM:276700
HP:0000083	Renal insufficiency	2542	SLC37A4	OMIM:232240
HP:0000083	Renal insufficiency	286204	CRB2	OMIM:219730
HP:0000083	Renal insufficiency	4615	MYD88	ORPHA:33226
HP:0000083	Renal insufficiency	1376	CPT2	OMIM:255110
HP:0000083	Renal insufficiency	1376	CPT2	OMIM:608836
HP:0000083	Renal insufficiency	1376	CPT2	ORPHA:228302
HP:0000083	Renal insufficiency	1376	CPT2	ORPHA:228308
HP:0000083	Renal insufficiency	4069	LYZ	OMIM:620658
HP:0000083	Renal insufficiency	1285	COL4A3	OMIM:620536
HP:0000083	Renal insufficiency	1285	COL4A3	OMIM:104200
HP:0000083	Renal insufficiency	27241	BBS9	OMIM:615986
HP:0000083	Renal insufficiency	79738	BBS10	OMIM:615987
HP:0000083	Renal insufficiency	2934	GSN	OMIM:105120
HP:0000083	Renal insufficiency	149233	IL23R	ORPHA:117
HP:0000083	Renal insufficiency	6775	STAT4	ORPHA:117
HP:0000083	Renal insufficiency	6775	STAT4	ORPHA:93552
HP:0000083	Renal insufficiency	3586	IL10	ORPHA:117
HP:0000083	Renal insufficiency	4210	MEFV	ORPHA:117
HP:0000083	Renal insufficiency	4210	MEFV	OMIM:134610
HP:0000083	Renal insufficiency	1230	CCR1	ORPHA:117
HP:0000083	Renal insufficiency	3592	IL12A	ORPHA:117
HP:0000083	Renal insufficiency	101928376	IL12A-AS1	ORPHA:117
HP:0000083	Renal insufficiency	7099	TLR4	ORPHA:117
HP:0000083	Renal insufficiency	3459	IFNGR1	ORPHA:117
HP:0000083	Renal insufficiency	720	C4A	ORPHA:117
HP:0000083	Renal insufficiency	337867	UBAC2	ORPHA:117
HP:0000083	Renal insufficiency	51752	ERAP1	ORPHA:117
HP:0000083	Renal insufficiency	8302	KLRC4	ORPHA:117
HP:0000083	Renal insufficiency	435	ASL	ORPHA:23
HP:0000083	Renal insufficiency	80184	CEP290	OMIM:615991
HP:0000083	Renal insufficiency	80184	CEP290	ORPHA:2318
HP:0000083	Renal insufficiency	92482	BBIP1	OMIM:615995
HP:0000083	Renal insufficiency	11020	IFT27	OMIM:615996
HP:0000083	Renal insufficiency	10806	SDCCAG8	OMIM:615993
HP:0000083	Renal insufficiency	51259	TMEM216	OMIM:608091
HP:0000083	Renal insufficiency	51259	TMEM216	ORPHA:2318
HP:0000083	Renal insufficiency	3426	CFI	OMIM:610984
HP:0000083	Renal insufficiency	6696	SPP1	ORPHA:93552
HP:0000083	Renal insufficiency	6303	SAT1	ORPHA:93552
HP:0000083	Renal insufficiency	3654	IRAK1	ORPHA:93552
HP:0000083	Renal insufficiency	79813	EHMT1	ORPHA:96147
HP:0000083	Renal insufficiency	84320	ACBD6	OMIM:620785
HP:0000083	Renal insufficiency	1776	DNASE1L3	ORPHA:36412
HP:0000083	Renal insufficiency	81570	CLPB	ORPHA:445038
HP:0000083	Renal insufficiency	6299	SALL1	OMIM:107480
HP:0000083	Renal insufficiency	6299	SALL1	ORPHA:857
HP:0000083	Renal insufficiency	5076	PAX2	ORPHA:1475
HP:0000083	Renal insufficiency	23729	SHPK	ORPHA:440713
HP:0000083	Renal insufficiency	3939	LDHA	OMIM:612933
HP:0000083	Renal insufficiency	1287	COL4A5	OMIM:301050
HP:0000083	Renal insufficiency	23005	MAPKBP1	OMIM:617271
HP:0000083	Renal insufficiency	10320	IKZF1	ORPHA:36426
HP:0000083	Renal insufficiency	486	FXYD2	OMIM:154020
HP:0000083	Renal insufficiency	1108	CHD4	OMIM:617159
HP:0000083	Renal insufficiency	4221	MEN1	ORPHA:99879
HP:0000083	Renal insufficiency	9247	GCM2	ORPHA:99879
HP:0000083	Renal insufficiency	79583	TMEM231	ORPHA:2318
HP:0000083	Renal insufficiency	51524	TMEM138	ORPHA:2318
HP:0000083	Renal insufficiency	23090	ZNF423	ORPHA:2318
HP:0000083	Renal insufficiency	57545	CC2D2A	ORPHA:2318
HP:0000083	Renal insufficiency	57545	CC2D2A	ORPHA:1454
HP:0000083	Renal insufficiency	5277	PIGA	ORPHA:447
HP:0000083	Renal insufficiency	3291	HSD11B2	ORPHA:320
HP:0000083	Renal insufficiency	7809	BSND	OMIM:602522
HP:0000083	Renal insufficiency	254428	SLC41A1	OMIM:619468
HP:0000083	Renal insufficiency	9451	EIF2AK3	OMIM:226980
HP:0000083	Renal insufficiency	9451	EIF2AK3	ORPHA:1667
HP:0000083	Renal insufficiency	56623	INPP5E	ORPHA:1454
HP:0000083	Renal insufficiency	27031	NPHP3	OMIM:604387
HP:0000083	Renal insufficiency	27031	NPHP3	OMIM:208540
HP:0000083	Renal insufficiency	151516	ASPRV1	ORPHA:313
HP:0000083	Renal insufficiency	242	ALOX12B	ORPHA:313
HP:0000083	Renal insufficiency	126410	CYP4F22	ORPHA:313
HP:0000083	Renal insufficiency	6820	SULT2B1	ORPHA:313
HP:0000083	Renal insufficiency	26154	ABCA12	ORPHA:313
HP:0000083	Renal insufficiency	643418	LIPN	ORPHA:313
HP:0000083	Renal insufficiency	59344	ALOXE3	ORPHA:313
HP:0000083	Renal insufficiency	348938	NIPAL4	ORPHA:313
HP:0000083	Renal insufficiency	121214	SDR9C7	ORPHA:313
HP:0000083	Renal insufficiency	7051	TGM1	ORPHA:313
HP:0000083	Renal insufficiency	56244	BTNL2	ORPHA:797
HP:0000083	Renal insufficiency	23476	BRD4	ORPHA:199
HP:0000083	Renal insufficiency	9126	SMC3	ORPHA:199
HP:0000083	Renal insufficiency	8243	SMC1A	ORPHA:199
HP:0000083	Renal insufficiency	6878	TAF6	ORPHA:199
HP:0000083	Renal insufficiency	25836	NIPBL	ORPHA:199
HP:0000083	Renal insufficiency	55869	HDAC8	ORPHA:199
HP:0000083	Renal insufficiency	5885	RAD21	ORPHA:199
HP:0000083	Renal insufficiency	4613	MYCN	ORPHA:391641
HP:0000083	Renal insufficiency	6338	SCNN1B	OMIM:177200
HP:0000083	Renal insufficiency	6338	SCNN1B	ORPHA:526
HP:0000083	Renal insufficiency	3975	LHX1	ORPHA:261265
HP:0000083	Renal insufficiency	6928	HNF1B	ORPHA:261265
HP:0000083	Renal insufficiency	6928	HNF1B	ORPHA:93111
HP:0000083	Renal insufficiency	4576	MT-TT	ORPHA:254857
HP:0000083	Renal insufficiency	1286	COL4A4	OMIM:203780
HP:0000083	Renal insufficiency	284086	NEK8	OMIM:620903
HP:0000083	Renal insufficiency	189	AGXT	OMIM:259900
HP:0000083	Renal insufficiency	3257	HPS1	OMIM:203300
HP:0000083	Renal insufficiency	54796	BNC2	ORPHA:93110
HP:0000083	Renal insufficiency	2335	FN1	ORPHA:84090
HP:0000083	Renal insufficiency	2335	FN1	OMIM:601894
HP:0000083	Renal insufficiency	23630	KCNE5	ORPHA:86818
HP:0000083	Renal insufficiency	2182	ACSL4	ORPHA:86818
HP:0000083	Renal insufficiency	9949	AMMECR1	ORPHA:86818
HP:0000083	Renal insufficiency	284252	KCTD1	OMIM:181270
HP:0000083	Renal insufficiency	100147744	RNU7-1	OMIM:619487
HP:0000083	Renal insufficiency	2628	GATM	OMIM:134600
HP:0000083	Renal insufficiency	6569	SLC34A1	OMIM:613388
HP:0000083	Renal insufficiency	100506658	OCLN	OMIM:251290
HP:0000083	Renal insufficiency	50485	SMARCAL1	OMIM:242900
HP:0000083	Renal insufficiency	51339	DACT1	ORPHA:857
HP:0000083	Renal insufficiency	199221	DZIP1L	ORPHA:731
HP:0000083	Renal insufficiency	5264	PHYH	ORPHA:773
HP:0000083	Renal insufficiency	5191	PEX7	ORPHA:773
HP:0000083	Renal insufficiency	348	APOE	OMIM:611771
HP:0000083	Renal insufficiency	25974	MMACHC	ORPHA:79282
HP:0000083	Renal insufficiency	25974	MMACHC	OMIM:277400
HP:0000083	Renal insufficiency	55005	RMND1	OMIM:614922
HP:0000083	Renal insufficiency	6340	SCNN1G	ORPHA:526
HP:0000083	Renal insufficiency	6337	SCNN1A	ORPHA:526
HP:0000083	Renal insufficiency	4853	NOTCH2	OMIM:610205
HP:0000083	Renal insufficiency	8481	OFD1	ORPHA:2750
HP:0000083	Renal insufficiency	81494	CFHR5	OMIM:614809
HP:0000083	Renal insufficiency	3735	KARS1	OMIM:619147
HP:0000083	Renal insufficiency	5087	PBX1	OMIM:617641
HP:0000083	Renal insufficiency	9054	NFS1	OMIM:619386
HP:0000083	Renal insufficiency	1235	CCR6	ORPHA:220393
HP:0000083	Renal insufficiency	1490	CCN2	ORPHA:220393
HP:0000083	Renal insufficiency	3663	IRF5	ORPHA:220393
HP:0000083	Renal insufficiency	857	CAV1	ORPHA:220393
HP:0000083	Renal insufficiency	4627	MYH9	ORPHA:182050
HP:0000083	Renal insufficiency	9935	MAFB	OMIM:166300
HP:0000083	Renal insufficiency	3145	HMBS	ORPHA:79276
HP:0000083	Renal insufficiency	5052	PRDX1	OMIM:277400
HP:0000083	Renal insufficiency	8085	KMT2D	OMIM:147920
HP:0000083	Renal insufficiency	7403	KDM6A	OMIM:147920
HP:0000083	Renal insufficiency	116085	SLC22A12	OMIM:220150
HP:0000083	Renal insufficiency	116085	SLC22A12	ORPHA:94088
HP:0000083	Renal insufficiency	595	CCND1	ORPHA:29073
HP:0000083	Renal insufficiency	29927	SEC61A1	OMIM:617056
HP:0000083	Renal insufficiency	4179	CD46	OMIM:612922
HP:0000083	Renal insufficiency	4179	CD46	ORPHA:244242
HP:0000083	Renal insufficiency	253738	EBF3	ORPHA:96148
HP:0000083	Renal insufficiency	629	CFB	OMIM:612924
HP:0000083	Renal insufficiency	6261	RYR1	ORPHA:466650
HP:0000083	Renal insufficiency	6261	RYR1	ORPHA:423
HP:0000083	Renal insufficiency	56606	SLC2A9	ORPHA:94088
HP:0000083	Renal insufficiency	7056	THBD	OMIM:612926
HP:0000083	Renal insufficiency	779	CACNA1S	ORPHA:423
HP:0000083	Renal insufficiency	3075	CFH	ORPHA:244242
HP:0000083	Renal insufficiency	3075	CFH	OMIM:235400
HP:0000083	Renal insufficiency	101101692	HELLPAR	ORPHA:244242
HP:0000083	Renal insufficiency	8526	DGKE	OMIM:615008
HP:0000083	Renal insufficiency	6948	TCN2	ORPHA:859
HP:0000083	Renal insufficiency	6773	STAT2	OMIM:618886
HP:0000083	Renal insufficiency	5837	PYGM	ORPHA:368
HP:0000083	Renal insufficiency	226	ALDOA	ORPHA:57
HP:0000083	Renal insufficiency	10861	SLC26A1	OMIM:167030
HP:0000083	Renal insufficiency	10878	CFHR3	OMIM:235400
HP:0000083	Renal insufficiency	3078	CFHR1	OMIM:235400
HP:0000083	Renal insufficiency	9722	NOS1AP	OMIM:619155
HP:0000083	Renal insufficiency	6091	ROBO1	OMIM:620305
HP:0000083	Renal insufficiency	10677	AVIL	OMIM:618594
HP:0000083	Renal insufficiency	10847	SRCAP	ORPHA:2044
HP:0000083	Renal insufficiency	84520	GON7	OMIM:619603
HP:0000083	Renal insufficiency	977	CD151	OMIM:609057
HP:0000083	Renal insufficiency	79693	YRDC	OMIM:619609
HP:0000083	Renal insufficiency	3911	LAMA5	OMIM:620049
HP:0000083	Renal insufficiency	25778	DSTYK	OMIM:610805
HP:0000083	Renal insufficiency	54806	AHI1	OMIM:608629
HP:0000083	Renal insufficiency	55863	TMEM126B	OMIM:618250
HP:0000083	Renal insufficiency	4582	MUC1	OMIM:174000
HP:0000083	Renal insufficiency	55644	OSGEP	OMIM:617729
HP:0000083	Renal insufficiency	10269	ZMPSTE24	OMIM:608612
HP:0000083	Renal insufficiency	112858	TP53RK	OMIM:617730
HP:0000083	Renal insufficiency	8879	SGPL1	OMIM:617575
HP:0000083	Renal insufficiency	8270	LAGE3	OMIM:301006
HP:0000083	Renal insufficiency	975	CD81	OMIM:613496
HP:0000083	Renal insufficiency	51002	TPRKB	OMIM:617731
HP:0000083	Renal insufficiency	5580	PRKCD	OMIM:615559
HP:0000083	Renal insufficiency	182	JAG1	OMIM:118450
HP:0000083	Renal insufficiency	10253	SPRY2	OMIM:616818
HP:0000083	Renal insufficiency	93649	MYOCD	OMIM:618719
HP:0000083	Renal insufficiency	63929	XPNPEP3	OMIM:613159
HP:0000083	Renal insufficiency	84662	GLIS2	OMIM:611498
HP:0000083	Renal insufficiency	64127	NOD2	ORPHA:90340
HP:0000083	Renal insufficiency	112752	IFT43	OMIM:614099
HP:0000083	Renal insufficiency	51004	COQ6	OMIM:614650
HP:0000083	Renal insufficiency	51134	CEP83	OMIM:615862
HP:0000083	Renal insufficiency	335	APOA1	OMIM:620657
HP:0000083	Renal insufficiency	22909	FAN1	OMIM:614817
HP:0000083	Renal insufficiency	2639	GCDH	ORPHA:25
HP:0000083	Renal insufficiency	7225	TRPC6	OMIM:603965
HP:0000083	Renal insufficiency	7225	TRPC6	ORPHA:656
HP:0000083	Renal insufficiency	25970	SH2B1	ORPHA:261222
HP:0000083	Renal insufficiency	9056	SLC7A7	ORPHA:470
HP:0000083	Renal insufficiency	582	BBS1	ORPHA:110
HP:0000083	Renal insufficiency	49855	SCAPER	ORPHA:110
HP:0000083	Renal insufficiency	51057	WDPCP	ORPHA:110
HP:0000083	Renal insufficiency	132320	SCLT1	ORPHA:110
HP:0000083	Renal insufficiency	84984	CEP19	ORPHA:110
HP:0000083	Renal insufficiency	22954	TRIM32	ORPHA:110
HP:0000083	Renal insufficiency	54903	MKS1	ORPHA:110
HP:0000083	Renal insufficiency	123016	TTC8	ORPHA:110
HP:0000083	Renal insufficiency	583	BBS2	ORPHA:110
HP:0000083	Renal insufficiency	583	BBS2	OMIM:615981
HP:0000083	Renal insufficiency	585	BBS4	ORPHA:110
HP:0000083	Renal insufficiency	8195	MKKS	ORPHA:110
HP:0000083	Renal insufficiency	54585	LZTFL1	ORPHA:110
HP:0000083	Renal insufficiency	55212	BBS7	ORPHA:110
HP:0000083	Renal insufficiency	166379	BBS12	ORPHA:110
HP:0000083	Renal insufficiency	157657	CFAP418	ORPHA:110
HP:0000083	Renal insufficiency	84100	ARL6	ORPHA:110
HP:0000083	Renal insufficiency	129880	BBS5	ORPHA:110
HP:0000083	Renal insufficiency	80173	IFT74	ORPHA:110
HP:0000083	Renal insufficiency	5972	REN	OMIM:613092
HP:0000083	Renal insufficiency	4567	MT-TL1	ORPHA:324525
HP:0000083	Renal insufficiency	4567	MT-TL1	ORPHA:480
HP:0000083	Renal insufficiency	374879	ZNF699	OMIM:619488
HP:0000083	Renal insufficiency	396	ARHGDIA	OMIM:615244
HP:0000083	Renal insufficiency	396	ARHGDIA	ORPHA:656
HP:0000083	Renal insufficiency	8942	KYNU	OMIM:617661
HP:0000083	Renal insufficiency	51473	DCDC2	ORPHA:84081
HP:0000083	Renal insufficiency	9688	NUP93	ORPHA:656
HP:0000083	Renal insufficiency	4643	MYO1E	ORPHA:656
HP:0000083	Renal insufficiency	64423	INF2	ORPHA:656
HP:0000083	Renal insufficiency	26130	GAPVD1	ORPHA:656
HP:0000083	Renal insufficiency	57122	NUP107	ORPHA:656
HP:0000083	Renal insufficiency	51479	ANKFY1	ORPHA:656
HP:0000083	Renal insufficiency	54443	ANLN	ORPHA:656
HP:0000083	Renal insufficiency	5800	PTPRO	ORPHA:656
HP:0000083	Renal insufficiency	23165	NUP205	ORPHA:656
HP:0000083	Renal insufficiency	2013	EMP2	ORPHA:656
HP:0000083	Renal insufficiency	79023	NUP37	ORPHA:656
HP:0000083	Renal insufficiency	51196	PLCE1	ORPHA:656
HP:0000083	Renal insufficiency	79902	NUP85	ORPHA:656
HP:0000083	Renal insufficiency	79934	COQ8B	ORPHA:656
HP:0000083	Renal insufficiency	23279	NUP160	ORPHA:656
HP:0000083	Renal insufficiency	9863	MAGI2	ORPHA:656
HP:0000083	Renal insufficiency	81	ACTN4	ORPHA:656
HP:0000083	Renal insufficiency	8542	APOL1	ORPHA:656
HP:0000083	Renal insufficiency	54885	TBC1D8B	ORPHA:656
HP:0000083	Renal insufficiency	7827	NPHS2	ORPHA:656
HP:0000083	Renal insufficiency	83478	ARHGAP24	ORPHA:656
HP:0000083	Renal insufficiency	23500	DAAM2	ORPHA:656
HP:0000083	Renal insufficiency	55746	NUP133	ORPHA:656
HP:0000083	Renal insufficiency	137682	NDUFAF6	ORPHA:3337
HP:0000083	Renal insufficiency	3190	HNRNPK	OMIM:616580
HP:0000083	Renal insufficiency	83480	PUS3	ORPHA:488627
HP:0000083	Renal insufficiency	55764	IFT122	OMIM:218330
HP:0000083	Renal insufficiency	4914	NTRK1	ORPHA:642
HP:0000083	Renal insufficiency	4509	MT-ATP8	ORPHA:480
HP:0000083	Renal insufficiency	50484	RRM2B	ORPHA:480
HP:0000083	Renal insufficiency	149461	CLDN19	OMIM:248190
HP:0000083	Renal insufficiency	5498	PPOX	ORPHA:79473
HP:0000083	Renal insufficiency	54938	SARS2	OMIM:613845
HP:0000083	Renal insufficiency	26146	TRAF3IP1	ORPHA:3156
HP:0000083	Renal insufficiency	9657	IQCB1	ORPHA:3156
HP:0000083	Renal insufficiency	27130	INVS	ORPHA:3156
HP:0000083	Renal insufficiency	261734	NPHP4	ORPHA:3156
HP:0000083	Renal insufficiency	22897	CEP164	ORPHA:3156
HP:0000083	Renal insufficiency	567	B2M	ORPHA:314652
HP:0000083	Renal insufficiency	54	ACP5	ORPHA:1855
HP:0000083	Renal insufficiency	1288	COL4A6	ORPHA:1018
HP:0000083	Renal insufficiency	91461	PKDCC	OMIM:618821
HP:0000083	Renal insufficiency	1136	CHRNA3	OMIM:191800
HP:0000083	Renal insufficiency	6522	SLC4A2	OMIM:620366
HP:0000083	Renal insufficiency	5442	POLRMT	OMIM:619743
HP:0004724	Calcium nephrolithiasis	10568	SLC34A2	ORPHA:60025
HP:0004724	Calcium nephrolithiasis	142680	SLC34A3	OMIM:241530
HP:0004724	Calcium nephrolithiasis	51726	DNAJB11	ORPHA:730
HP:0004724	Calcium nephrolithiasis	23193	GANAB	ORPHA:730
HP:0004724	Calcium nephrolithiasis	5310	PKD1	ORPHA:730
HP:0004724	Calcium nephrolithiasis	5311	PKD2	ORPHA:730
HP:0004724	Calcium nephrolithiasis	29880	ALG5	ORPHA:730
HP:0004724	Calcium nephrolithiasis	9742	IFT140	ORPHA:730
HP:0004724	Calcium nephrolithiasis	79796	ALG9	ORPHA:730
HP:0004724	Calcium nephrolithiasis	80114	BICC1	ORPHA:730
HP:0004724	Calcium nephrolithiasis	10861	SLC26A1	OMIM:167030
HP:0004724	Calcium nephrolithiasis	26873	OPLAH	OMIM:260005
HP:0004724	Calcium nephrolithiasis	189	AGXT	OMIM:259900
HP:0004724	Calcium nephrolithiasis	55811	ADCY10	ORPHA:2197
HP:0004724	Calcium nephrolithiasis	55811	ADCY10	OMIM:143870
HP:0004724	Calcium nephrolithiasis	9380	GRHPR	OMIM:260000
HP:0004724	Calcium nephrolithiasis	51256	TBC1D7	OMIM:248000
HP:0004724	Calcium nephrolithiasis	112817	HOGA1	OMIM:613616
HP:0004724	Calcium nephrolithiasis	112817	HOGA1	ORPHA:93600
HP:0004724	Calcium nephrolithiasis	153201	SLC36A2	OMIM:138500
HP:0004727	Impaired renal concentrating ability	80184	CEP290	OMIM:610188
HP:0004727	Impaired renal concentrating ability	7809	BSND	ORPHA:89938
HP:0004727	Impaired renal concentrating ability	7809	BSND	OMIM:602522
HP:0004727	Impaired renal concentrating ability	1188	CLCNKB	ORPHA:89938
HP:0004727	Impaired renal concentrating ability	1187	CLCNKA	ORPHA:89938
HP:0004727	Impaired renal concentrating ability	54757	FAM20A	ORPHA:1031
HP:0004727	Impaired renal concentrating ability	54757	FAM20A	OMIM:204690
HP:0004727	Impaired renal concentrating ability	4867	NPHP1	OMIM:266900
HP:0004727	Impaired renal concentrating ability	29927	SEC61A1	OMIM:617056
HP:0001967	Diffuse mesangial sclerosis	112858	TP53RK	OMIM:617730
HP:0001967	Diffuse mesangial sclerosis	396	ARHGDIA	OMIM:615244
HP:0001967	Diffuse mesangial sclerosis	396	ARHGDIA	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	8879	SGPL1	OMIM:617575
HP:0001967	Diffuse mesangial sclerosis	3913	LAMB2	OMIM:614199
HP:0001967	Diffuse mesangial sclerosis	3913	LAMB2	OMIM:609049
HP:0001967	Diffuse mesangial sclerosis	51004	COQ6	OMIM:614650
HP:0001967	Diffuse mesangial sclerosis	9688	NUP93	OMIM:616892
HP:0001967	Diffuse mesangial sclerosis	9688	NUP93	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	10677	AVIL	OMIM:618594
HP:0001967	Diffuse mesangial sclerosis	100	ADA	OMIM:102700
HP:0001967	Diffuse mesangial sclerosis	57122	NUP107	OMIM:616730
HP:0001967	Diffuse mesangial sclerosis	57122	NUP107	OMIM:618348
HP:0001967	Diffuse mesangial sclerosis	57122	NUP107	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	84520	GON7	OMIM:619603
HP:0001967	Diffuse mesangial sclerosis	7490	WT1	OMIM:256370
HP:0001967	Diffuse mesangial sclerosis	7490	WT1	OMIM:194080
HP:0001967	Diffuse mesangial sclerosis	7490	WT1	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	84942	WDR73	OMIM:251300
HP:0001967	Diffuse mesangial sclerosis	55644	OSGEP	OMIM:617729
HP:0001967	Diffuse mesangial sclerosis	51196	PLCE1	OMIM:610725
HP:0001967	Diffuse mesangial sclerosis	51196	PLCE1	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	79693	YRDC	OMIM:619609
HP:0001967	Diffuse mesangial sclerosis	4868	NPHS1	OMIM:256300
HP:0001967	Diffuse mesangial sclerosis	4868	NPHS1	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	23607	CD2AP	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	4643	MYO1E	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	64423	INF2	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	26130	GAPVD1	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	51479	ANKFY1	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	54443	ANLN	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	5800	PTPRO	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	286204	CRB2	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	23165	NUP205	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	2013	EMP2	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	79023	NUP37	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	79902	NUP85	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	1285	COL4A3	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	79934	COQ8B	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	23279	NUP160	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	9863	MAGI2	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	81	ACTN4	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	7225	TRPC6	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	8542	APOL1	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	54885	TBC1D8B	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	7827	NPHS2	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	83478	ARHGAP24	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	23500	DAAM2	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	5076	PAX2	ORPHA:656
HP:0001967	Diffuse mesangial sclerosis	55746	NUP133	ORPHA:656
HP:0030854	Scleral staphyloma	27183	VPS4A	OMIM:619273
HP:0030854	Scleral staphyloma	5076	PAX2	OMIM:120330
HP:0030854	Scleral staphyloma	755	CFAP410	OMIM:617547
HP:0030854	Scleral staphyloma	3030	HADHA	ORPHA:5
HP:0030854	Scleral staphyloma	7439	BEST1	OMIM:193220
HP:0030854	Scleral staphyloma	402	ARL2	OMIM:619082
HP:0030854	Scleral staphyloma	4157	MC1R	ORPHA:79432
HP:0030854	Scleral staphyloma	4948	OCA2	ORPHA:79432
HP:0030854	Scleral staphyloma	50939	IMPG2	OMIM:613581
HP:0030854	Scleral staphyloma	51604	PIGT	ORPHA:369837
HP:0030853	Heterotaxy	6910	TBX5	OMIM:142900
HP:0030853	Heterotaxy	10815	CPLX1	ORPHA:280
HP:0030853	Heterotaxy	54872	PIGG	ORPHA:280
HP:0030853	Heterotaxy	7469	NELFA	ORPHA:280
HP:0030853	Heterotaxy	1487	CTBP1	ORPHA:280
HP:0030853	Heterotaxy	3954	LETM1	ORPHA:280
HP:0030853	Heterotaxy	7468	NSD2	ORPHA:280
HP:0030853	Heterotaxy	90416	CCDC32	OMIM:619123
HP:0030853	Heterotaxy	168507	PKD1L1	OMIM:617205
HP:0030853	Heterotaxy	146845	CFAP52	OMIM:619607
HP:0030853	Heterotaxy	72	ACTG2	ORPHA:2604
HP:0030853	Heterotaxy	2302	FOXJ1	OMIM:618699
HP:0030853	Heterotaxy	220136	CFAP53	OMIM:614779
HP:0030853	Heterotaxy	79645	CLXN	OMIM:620642
HP:0030853	Heterotaxy	55997	CFC1	OMIM:605376
HP:0030853	Heterotaxy	4838	NODAL	OMIM:270100
HP:0030853	Heterotaxy	84181	CHD6	ORPHA:2108
HP:0030853	Heterotaxy	164781	DAW1	OMIM:620570
HP:0030853	Heterotaxy	51780	KDM3B	OMIM:618846
HP:0030853	Heterotaxy	118856	MMP21	OMIM:616749
HP:0030853	Heterotaxy	152110	NEK10	OMIM:618781
HP:0030853	Heterotaxy	339829	CCDC39	OMIM:613807
HP:0030853	Heterotaxy	54919	DNAAF5	OMIM:614874
HP:0030853	Heterotaxy	100128908	CIROP	OMIM:619702
HP:0030853	Heterotaxy	83538	ODAD4	OMIM:617092
HP:0030853	Heterotaxy	2657	GDF1	OMIM:208530
HP:0030853	Heterotaxy	4087	SMAD2	OMIM:619657
HP:0030853	Heterotaxy	7547	ZIC3	OMIM:314390
HP:0030853	Heterotaxy	2187	FANCB	OMIM:314390
HP:0030853	Heterotaxy	1770	DNAH9	OMIM:618300
HP:0030850	Abnormal pulse pressure	6261	RYR1	ORPHA:466650
HP:0030850	Abnormal pulse pressure	213	ALB	ORPHA:86816
HP:0030858	Addictive behavior	3064	HTT	ORPHA:399
HP:0030858	Addictive behavior	6515	SLC2A3	ORPHA:399
HP:0030858	Addictive behavior	6774	STAT3	ORPHA:520
HP:0030858	Addictive behavior	5371	PML	ORPHA:520
HP:0030858	Addictive behavior	5914	RARA	ORPHA:520
HP:0030858	Addictive behavior	359948	IRF2BP2	ORPHA:520
HP:0030858	Addictive behavior	81608	FIP1L1	ORPHA:520
HP:0030858	Addictive behavior	4869	NPM1	ORPHA:520
HP:0030858	Addictive behavior	5573	PRKAR1A	ORPHA:520
HP:0030858	Addictive behavior	54880	BCOR	ORPHA:520
HP:0030858	Addictive behavior	64859	NABP1	ORPHA:520
HP:0030858	Addictive behavior	6777	STAT5B	ORPHA:520
HP:0030858	Addictive behavior	4926	NUMA1	ORPHA:520
HP:0030858	Addictive behavior	7704	ZBTB16	ORPHA:520
HP:0030858	Addictive behavior	79718	TBL1XR1	ORPHA:520
HP:0030858	Addictive behavior	8910	SGCE	OMIM:159900
HP:0030858	Addictive behavior	23592	LEMD3	ORPHA:166119
HP:0030858	Addictive behavior	50833	TAS2R16	OMIM:103780
HP:0030858	Addictive behavior	125	ADH1B	OMIM:103780
HP:0030858	Addictive behavior	126	ADH1C	OMIM:103780
HP:0030858	Addictive behavior	2555	GABRA2	OMIM:103780
HP:0030858	Addictive behavior	7187	TRAF3	ORPHA:1930
HP:0030858	Addictive behavior	81622	UNC93B1	ORPHA:1930
HP:0030858	Addictive behavior	148022	TICAM1	ORPHA:1930
HP:0030858	Addictive behavior	7098	TLR3	ORPHA:1930
HP:0030858	Addictive behavior	29110	TBK1	ORPHA:1930
HP:0030857	Eye movement-induced pain	6935	ZEB1	ORPHA:98974
HP:0030857	Eye movement-induced pain	123624	AGBL1	ORPHA:98974
HP:0030857	Eye movement-induced pain	6925	TCF4	ORPHA:98974
HP:0030857	Eye movement-induced pain	83959	SLC4A11	ORPHA:98974
HP:0030857	Eye movement-induced pain	1296	COL8A2	ORPHA:98974
HP:0030856	Posterior staphyloma	755	CFAP410	OMIM:617547
HP:0030856	Posterior staphyloma	3030	HADHA	ORPHA:5
HP:0030856	Posterior staphyloma	7439	BEST1	OMIM:193220
HP:0030856	Posterior staphyloma	402	ARL2	OMIM:619082
HP:0030856	Posterior staphyloma	4157	MC1R	ORPHA:79432
HP:0030856	Posterior staphyloma	4948	OCA2	ORPHA:79432
HP:0030856	Posterior staphyloma	50939	IMPG2	OMIM:613581
HP:0030856	Posterior staphyloma	51604	PIGT	ORPHA:369837
HP:0007962	Speckled corneal dystrophy	200576	PIKFYVE	OMIM:121850
HP:0007963	Pattern dystrophy of the retina	5961	PRPH2	OMIM:169150
HP:0007963	Pattern dystrophy of the retina	1495	CTNNA1	OMIM:608970
HP:0007964	Degenerative vitreoretinopathy	1280	COL2A1	ORPHA:485
HP:0007964	Degenerative vitreoretinopathy	1297	COL9A1	OMIM:614134
HP:0007964	Degenerative vitreoretinopathy	1301	COL11A1	OMIM:604841
HP:0007964	Degenerative vitreoretinopathy	2065	ERBB3	OMIM:607598
HP:0007964	Degenerative vitreoretinopathy	1302	COL11A2	ORPHA:1427
HP:0004742	Abnormal renal collecting system morphology	8036	SHOC2	OMIM:607721
HP:0004742	Abnormal renal collecting system morphology	2177	FANCD2	OMIM:227646
HP:0004742	Abnormal renal collecting system morphology	3376	IARS1	OMIM:617093
HP:0004742	Abnormal renal collecting system morphology	3376	IARS1	ORPHA:541423
HP:0004742	Abnormal renal collecting system morphology	2176	FANCC	OMIM:227645
HP:0004742	Abnormal renal collecting system morphology	23126	POGZ	OMIM:616364
HP:0004742	Abnormal renal collecting system morphology	23126	POGZ	ORPHA:468678
HP:0004742	Abnormal renal collecting system morphology	9487	PIGL	OMIM:280000
HP:0004742	Abnormal renal collecting system morphology	9894	TELO2	ORPHA:488642
HP:0004742	Abnormal renal collecting system morphology	8626	TP63	OMIM:604292
HP:0004742	Abnormal renal collecting system morphology	55593	OTUD5	OMIM:301056
HP:0004742	Abnormal renal collecting system morphology	80781	COL18A1	OMIM:267750
HP:0004742	Abnormal renal collecting system morphology	3909	LAMA3	ORPHA:79404
HP:0004742	Abnormal renal collecting system morphology	3918	LAMC2	ORPHA:79404
HP:0004742	Abnormal renal collecting system morphology	3914	LAMB3	ORPHA:79404
HP:0004742	Abnormal renal collecting system morphology	1717	DHCR7	OMIM:270400
HP:0004742	Abnormal renal collecting system morphology	5700	PSMC1	OMIM:620071
HP:0004742	Abnormal renal collecting system morphology	2178	FANCE	OMIM:600901
HP:0004742	Abnormal renal collecting system morphology	5594	MAPK1	OMIM:619087
HP:0004742	Abnormal renal collecting system morphology	5277	PIGA	OMIM:300868
HP:0004742	Abnormal renal collecting system morphology	2175	FANCA	OMIM:227650
HP:0004742	Abnormal renal collecting system morphology	7148	TNXB	OMIM:615963
HP:0004742	Abnormal renal collecting system morphology	8085	KMT2D	ORPHA:2322
HP:0004742	Abnormal renal collecting system morphology	8085	KMT2D	OMIM:147920
HP:0004742	Abnormal renal collecting system morphology	7403	KDM6A	ORPHA:2322
HP:0004742	Abnormal renal collecting system morphology	7403	KDM6A	OMIM:147920
HP:0004742	Abnormal renal collecting system morphology	182	JAG1	OMIM:118450
HP:0004742	Abnormal renal collecting system morphology	23556	PIGN	ORPHA:280633
HP:0004742	Abnormal renal collecting system morphology	25914	RTTN	ORPHA:468631
HP:0004742	Abnormal renal collecting system morphology	2138	EYA1	OMIM:113650
HP:0004742	Abnormal renal collecting system morphology	6495	SIX1	OMIM:113650
HP:0004742	Abnormal renal collecting system morphology	8802	SUCLG1	ORPHA:17
HP:0004742	Abnormal renal collecting system morphology	84992	PIGY	OMIM:616809
HP:0004732	Impaired renal uric acid clearance	7498	XDH	OMIM:278300
HP:0004732	Impaired renal uric acid clearance	4582	MUC1	OMIM:174000
HP:0004732	Impaired renal uric acid clearance	29927	SEC61A1	OMIM:617056
HP:0004734	Renal cortical microcysts	5828	PEX2	OMIM:614866
HP:0004734	Renal cortical microcysts	284086	NEK8	OMIM:613824
HP:0004734	Renal cortical microcysts	27130	INVS	OMIM:602088
HP:0004734	Renal cortical microcysts	5189	PEX1	OMIM:214100
HP:0004734	Renal cortical microcysts	9652	SKIC3	OMIM:222470
HP:0004736	Crossed fused renal ectopia	10682	EBP	OMIM:300960
HP:0004736	Crossed fused renal ectopia	7490	WT1	ORPHA:3097
HP:0004736	Crossed fused renal ectopia	83479	DDX59	ORPHA:2919
HP:0004736	Crossed fused renal ectopia	83479	DDX59	OMIM:174300
HP:0004736	Crossed fused renal ectopia	9578	CDC42BPB	OMIM:619841
HP:0004736	Crossed fused renal ectopia	51339	DACT1	OMIM:617466
HP:0004736	Crossed fused renal ectopia	348180	CTU2	OMIM:618142
HP:0004736	Crossed fused renal ectopia	92002	CCNQ	OMIM:300707
HP:0004736	Crossed fused renal ectopia	8085	KMT2D	ORPHA:2322
HP:0004736	Crossed fused renal ectopia	8085	KMT2D	OMIM:147920
HP:0004736	Crossed fused renal ectopia	7403	KDM6A	ORPHA:2322
HP:0004736	Crossed fused renal ectopia	7403	KDM6A	OMIM:147920
HP:0004736	Crossed fused renal ectopia	57167	SALL4	ORPHA:959
HP:0004736	Crossed fused renal ectopia	57167	SALL4	OMIM:607323
HP:0004736	Crossed fused renal ectopia	5718	PSMD12	OMIM:617516
HP:0004736	Crossed fused renal ectopia	4038	LRP4	ORPHA:3258
HP:0004736	Crossed fused renal ectopia	324	APC	ORPHA:3258
HP:0004736	Crossed fused renal ectopia	3110	MNX1	ORPHA:1552
HP:0004737	Global glomerulosclerosis	57728	WDR19	OMIM:614377
HP:0004737	Global glomerulosclerosis	57728	WDR19	OMIM:616307
HP:0004737	Global glomerulosclerosis	7809	BSND	OMIM:602522
HP:0004737	Global glomerulosclerosis	8260	NAA10	OMIM:300855
HP:0025568	Abnormal morphology of the choroidal vasculature	2776	GNAQ	OMIM:185300
HP:0025568	Abnormal morphology of the choroidal vasculature	2776	GNAQ	ORPHA:3205
HP:0025568	Abnormal morphology of the choroidal vasculature	11235	PDCD10	ORPHA:221061
HP:0025568	Abnormal morphology of the choroidal vasculature	5290	PIK3CA	ORPHA:221061
HP:0025568	Abnormal morphology of the choroidal vasculature	83605	CCM2	ORPHA:221061
HP:0025568	Abnormal morphology of the choroidal vasculature	889	KRIT1	ORPHA:221061
HP:0025568	Abnormal morphology of the choroidal vasculature	2202	EFEMP1	ORPHA:75376
HP:0025568	Abnormal morphology of the choroidal vasculature	3075	CFH	ORPHA:75376
HP:0025568	Abnormal morphology of the choroidal vasculature	3426	CFI	ORPHA:75376
HP:0025568	Abnormal morphology of the choroidal vasculature	3426	CFI	OMIM:615439
HP:0025568	Abnormal morphology of the choroidal vasculature	3105	HLA-A	ORPHA:179
HP:0025568	Abnormal morphology of the choroidal vasculature	114902	C1QTNF5	ORPHA:67042
HP:0025568	Abnormal morphology of the choroidal vasculature	114902	C1QTNF5	OMIM:605670
HP:0025568	Abnormal morphology of the choroidal vasculature	1121	CHM	ORPHA:180
HP:0025568	Abnormal morphology of the choroidal vasculature	64131	XYLT1	OMIM:264800
HP:0025568	Abnormal morphology of the choroidal vasculature	64132	XYLT2	OMIM:264800
HP:0025568	Abnormal morphology of the choroidal vasculature	368	ABCC6	OMIM:264800
HP:0025568	Abnormal morphology of the choroidal vasculature	368	ABCC6	ORPHA:51608
HP:0025568	Abnormal morphology of the choroidal vasculature	368	ABCC6	ORPHA:758
HP:0025568	Abnormal morphology of the choroidal vasculature	1181	CLCN2	OMIM:615651
HP:0025568	Abnormal morphology of the choroidal vasculature	5961	PRPH2	OMIM:169150
HP:0025568	Abnormal morphology of the choroidal vasculature	5961	PRPH2	OMIM:608161
HP:0025568	Abnormal morphology of the choroidal vasculature	5167	ENPP1	ORPHA:51608
HP:0025568	Abnormal morphology of the choroidal vasculature	5167	ENPP1	ORPHA:758
HP:0025568	Abnormal morphology of the choroidal vasculature	7867	MAPKAPK3	OMIM:617111
HP:0025568	Abnormal morphology of the choroidal vasculature	189	AGXT	OMIM:259900
HP:0025568	Abnormal morphology of the choroidal vasculature	7078	TIMP3	ORPHA:59181
HP:0025568	Abnormal morphology of the choroidal vasculature	7123	CLEC3B	OMIM:619977
HP:0025568	Abnormal morphology of the choroidal vasculature	2201	FBN2	OMIM:616118
HP:0025568	Abnormal morphology of the choroidal vasculature	10516	FBLN5	OMIM:608895
HP:0025568	Abnormal morphology of the choroidal vasculature	348	APOE	OMIM:603075
HP:0025568	Abnormal morphology of the choroidal vasculature	10878	CFHR3	OMIM:603075
HP:0025568	Abnormal morphology of the choroidal vasculature	83872	HMCN1	OMIM:603075
HP:0025568	Abnormal morphology of the choroidal vasculature	3078	CFHR1	OMIM:603075
HP:0025568	Abnormal morphology of the choroidal vasculature	2192	FBLN1	ORPHA:404451
HP:0030865	Large elbow	2588	GALNS	OMIM:253000
HP:0030863	Nasal flaring	6440	SFTPC	ORPHA:685082
HP:0030863	Nasal flaring	21	ABCA3	ORPHA:685082
HP:0030863	Nasal flaring	6439	SFTPB	ORPHA:685082
HP:0030863	Nasal flaring	5910	RAP1GDS1	OMIM:620655
HP:0030868	Monorchism	26123	TCTN3	ORPHA:2753
HP:0030866	Large knee	9131	AIFM1	ORPHA:83629
HP:0030866	Large knee	375056	MIA3	OMIM:619269
HP:0030866	Large knee	3417	IDH1	ORPHA:99646
HP:0007965	Undetectable visual evoked potentials	51109	RDH11	ORPHA:436245
HP:0007965	Undetectable visual evoked potentials	25782	RAB3GAP2	OMIM:614225
HP:0007965	Undetectable visual evoked potentials	4724	NDUFS4	OMIM:252010
HP:0007965	Undetectable visual evoked potentials	1340	COX6B1	OMIM:619051
HP:0007965	Undetectable visual evoked potentials	5631	PRPS1	ORPHA:423479
HP:0007965	Undetectable visual evoked potentials	478	ATP1A3	OMIM:601338
HP:0007965	Undetectable visual evoked potentials	9326	ZNHIT3	OMIM:260565
HP:0007965	Undetectable visual evoked potentials	9526	MPDU1	ORPHA:79323
HP:0007965	Undetectable visual evoked potentials	28962	OSTM1	OMIM:259720
HP:0025572	Punctal stenosis	668	FOXL2	ORPHA:572333
HP:0025573	Mild myopia	27245	AHDC1	ORPHA:412069
HP:0025573	Mild myopia	8481	OFD1	OMIM:300424
HP:0025573	Mild myopia	8367	H4C5	OMIM:619950
HP:0025573	Mild myopia	1302	COL11A2	ORPHA:1427
HP:0025573	Mild myopia	23126	POGZ	OMIM:616364
HP:0025573	Mild myopia	2784	GNB3	OMIM:617024
HP:0025574	Macular hemorrhage	2202	EFEMP1	ORPHA:75376
HP:0025574	Macular hemorrhage	3075	CFH	ORPHA:75376
HP:0025574	Macular hemorrhage	3426	CFI	ORPHA:75376
HP:0025574	Macular hemorrhage	348	APOE	OMIM:603075
HP:0025574	Macular hemorrhage	10878	CFHR3	OMIM:603075
HP:0025574	Macular hemorrhage	83872	HMCN1	OMIM:603075
HP:0025574	Macular hemorrhage	3078	CFHR1	OMIM:603075
HP:0025575	Abnormal superior vena cava morphology	128	ADH5	OMIM:619151
HP:0025575	Abnormal superior vena cava morphology	2294	FOXF1	OMIM:265380
HP:0025575	Abnormal superior vena cava morphology	7490	WT1	OMIM:608978
HP:0025575	Abnormal superior vena cava morphology	2033	EP300	OMIM:180849
HP:0025575	Abnormal superior vena cava morphology	1387	CREBBP	OMIM:180849
HP:0025575	Abnormal superior vena cava morphology	54916	TMEM260	OMIM:617478
HP:0025575	Abnormal superior vena cava morphology	4087	SMAD2	OMIM:619657
HP:0025575	Abnormal superior vena cava morphology	79645	CLXN	OMIM:620642
HP:0025575	Abnormal superior vena cava morphology	25981	DNAH1	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	115948	ODAD3	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	54768	HYDIN	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	352909	DNAAF3	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	27148	STK36	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	51314	NME8	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	92749	DRC1	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	54970	TTC12	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	152110	NEK10	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	8481	OFD1	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	2302	FOXJ1	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	221421	RSPH9	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	85478	CCDC65	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	55036	CCDC40	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	51364	ZMYND10	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	64446	DNAI2	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	8382	NME5	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	6674	SPAG1	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	83544	DNAL1	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	89765	RSPH1	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	83538	ODAD4	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	200373	CFAP221	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	374407	DNAJB13	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	55172	DNAAF2	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	161582	DNAAF4	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	2622	GAS8	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	23639	DNAAF11	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	27019	DNAI1	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	345895	RSPH4A	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	54919	DNAAF5	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	6103	RPGR	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	85452	CFAP74	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	93233	ODAD1	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	93233	ODAD1	OMIM:615067
HP:0025575	Abnormal superior vena cava morphology	55130	ODAD2	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	1767	DNAH5	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	83861	RSPH3	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	345643	MCIDAS	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	56683	CFAP298	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	79925	SPEF2	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	10309	CCNO	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	115399	LRRC56	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	139212	DNAAF6	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	123872	DNAAF1	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	85016	CFAP300	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	339829	CCDC39	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	8701	DNAH11	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	1770	DNAH9	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	246176	GAS2L2	ORPHA:244
HP:0025575	Abnormal superior vena cava morphology	6910	TBX5	OMIM:142900
HP:0025575	Abnormal superior vena cava morphology	10743	RAI1	ORPHA:477817
HP:0025575	Abnormal superior vena cava morphology	10847	SRCAP	OMIM:136140
HP:0025575	Abnormal superior vena cava morphology	10847	SRCAP	ORPHA:2044
HP:0025575	Abnormal superior vena cava morphology	7547	ZIC3	OMIM:314390
HP:0025575	Abnormal superior vena cava morphology	2187	FANCB	OMIM:314390
HP:0025575	Abnormal superior vena cava morphology	55181	SMG8	OMIM:619268
HP:0025575	Abnormal superior vena cava morphology	374879	ZNF699	OMIM:619488
HP:0025575	Abnormal superior vena cava morphology	7386	UQCRFS1	OMIM:618775
HP:0025575	Abnormal superior vena cava morphology	1822	ATN1	OMIM:618494
HP:0025575	Abnormal superior vena cava morphology	4281	MID1	ORPHA:2745
HP:0025575	Abnormal superior vena cava morphology	2783	GNB2	OMIM:619503
HP:0025575	Abnormal superior vena cava morphology	1161	ERCC8	OMIM:216400
HP:0025575	Abnormal superior vena cava morphology	8241	RBM10	ORPHA:2886
HP:0025575	Abnormal superior vena cava morphology	54892	NCAPG2	OMIM:618460
HP:0025575	Abnormal superior vena cava morphology	8772	FADD	OMIM:613759
HP:0025575	Abnormal superior vena cava morphology	55315	SLC29A3	OMIM:602782
HP:0025575	Abnormal superior vena cava morphology	81857	MED25	ORPHA:464738
HP:0025575	Abnormal superior vena cava morphology	100128908	CIROP	OMIM:619702
HP:0025575	Abnormal superior vena cava morphology	5567	PRKACB	OMIM:619143
HP:0025575	Abnormal superior vena cava morphology	6899	TBX1	ORPHA:3384
HP:0025575	Abnormal superior vena cava morphology	137814	NKX2-6	ORPHA:3384
HP:0025575	Abnormal superior vena cava morphology	23129	PLXND1	ORPHA:3384
HP:0025575	Abnormal superior vena cava morphology	5580	PRKCD	OMIM:615559
HP:0025575	Abnormal superior vena cava morphology	8314	BAP1	ORPHA:50251
HP:0025575	Abnormal superior vena cava morphology	93	ACVR2B	OMIM:613751
HP:0025575	Abnormal superior vena cava morphology	10128	LRPPRC	OMIM:220111
HP:0025575	Abnormal superior vena cava morphology	10283	CWC27	OMIM:250410
HP:0025575	Abnormal superior vena cava morphology	55997	CFC1	OMIM:605376
HP:0025576	Abnormal inferior vena cava morphology	51780	KDM3B	OMIM:618846
HP:0025576	Abnormal inferior vena cava morphology	93	ACVR2B	OMIM:613751
HP:0025576	Abnormal inferior vena cava morphology	64093	SMOC1	OMIM:206920
HP:0025576	Abnormal inferior vena cava morphology	118856	MMP21	OMIM:616749
HP:0025576	Abnormal inferior vena cava morphology	25981	DNAH1	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	115948	ODAD3	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	54768	HYDIN	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	352909	DNAAF3	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	27148	STK36	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	51314	NME8	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	92749	DRC1	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	54970	TTC12	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	152110	NEK10	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	8481	OFD1	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	2302	FOXJ1	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	221421	RSPH9	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	85478	CCDC65	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	55036	CCDC40	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	51364	ZMYND10	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	64446	DNAI2	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	8382	NME5	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	6674	SPAG1	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	83544	DNAL1	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	89765	RSPH1	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	83538	ODAD4	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	200373	CFAP221	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	374407	DNAJB13	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	55172	DNAAF2	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	161582	DNAAF4	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	2622	GAS8	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	23639	DNAAF11	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	27019	DNAI1	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	345895	RSPH4A	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	54919	DNAAF5	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	6103	RPGR	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	85452	CFAP74	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	93233	ODAD1	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	55130	ODAD2	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	1767	DNAH5	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	83861	RSPH3	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	345643	MCIDAS	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	56683	CFAP298	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	79925	SPEF2	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	10309	CCNO	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	115399	LRRC56	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	139212	DNAAF6	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	123872	DNAAF1	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	85016	CFAP300	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	339829	CCDC39	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	8701	DNAH11	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	1770	DNAH9	ORPHA:244
HP:0025576	Abnormal inferior vena cava morphology	246176	GAS2L2	ORPHA:244
HP:0030872	Abnormal cardiac ventricular function	4920	ROR2	OMIM:268310
HP:0030872	Abnormal cardiac ventricular function	7474	WNT5A	OMIM:180700
HP:0030872	Abnormal cardiac ventricular function	1855	DVL1	OMIM:180700
HP:0030872	Abnormal cardiac ventricular function	57190	SELENON	ORPHA:324604
HP:0030872	Abnormal cardiac ventricular function	79572	ATP13A3	OMIM:265400
HP:0030872	Abnormal cardiac ventricular function	546	ATRX	ORPHA:100075
HP:0030872	Abnormal cardiac ventricular function	440275	EIF2AK4	ORPHA:199241
HP:0030872	Abnormal cardiac ventricular function	10568	SLC34A2	ORPHA:60025
HP:0030872	Abnormal cardiac ventricular function	659	BMPR2	OMIM:178600
HP:0030872	Abnormal cardiac ventricular function	826	CAPNS1	OMIM:620777
HP:0030872	Abnormal cardiac ventricular function	3949	LDLR	ORPHA:391665
HP:0030872	Abnormal cardiac ventricular function	255738	PCSK9	ORPHA:391665
HP:0030872	Abnormal cardiac ventricular function	26119	LDLRAP1	ORPHA:391665
HP:0030872	Abnormal cardiac ventricular function	338	APOB	ORPHA:391665
HP:0030872	Abnormal cardiac ventricular function	64240	ABCG5	ORPHA:391665
HP:0030872	Abnormal cardiac ventricular function	64241	ABCG8	ORPHA:391665
HP:0030872	Abnormal cardiac ventricular function	7428	VHL	ORPHA:892
HP:0030872	Abnormal cardiac ventricular function	595	CCND1	ORPHA:892
HP:0030872	Abnormal cardiac ventricular function	4574	MT-TS1	OMIM:540000
HP:0030872	Abnormal cardiac ventricular function	4575	MT-TS2	OMIM:540000
HP:0030872	Abnormal cardiac ventricular function	4535	MT-ND1	OMIM:540000
HP:0030872	Abnormal cardiac ventricular function	4567	MT-TL1	OMIM:540000
HP:0030872	Abnormal cardiac ventricular function	4512	MT-CO1	OMIM:540000
HP:0030872	Abnormal cardiac ventricular function	4513	MT-CO2	OMIM:540000
HP:0030872	Abnormal cardiac ventricular function	4514	MT-CO3	OMIM:540000
HP:0030872	Abnormal cardiac ventricular function	4519	MT-CYB	OMIM:540000
HP:0030872	Abnormal cardiac ventricular function	4511	MT-TC	OMIM:540000
HP:0030872	Abnormal cardiac ventricular function	4572	MT-TQ	OMIM:540000
HP:0030872	Abnormal cardiac ventricular function	4577	MT-TV	OMIM:540000
HP:0030872	Abnormal cardiac ventricular function	4578	MT-TW	OMIM:540000
HP:0030872	Abnormal cardiac ventricular function	4558	MT-TF	OMIM:540000
HP:0030872	Abnormal cardiac ventricular function	4566	MT-TK	OMIM:540000
HP:0030872	Abnormal cardiac ventricular function	4540	MT-ND5	OMIM:540000
HP:0030872	Abnormal cardiac ventricular function	4541	MT-ND6	OMIM:540000
HP:0030872	Abnormal cardiac ventricular function	7092	TLL1	ORPHA:99103
HP:0030872	Abnormal cardiac ventricular function	57057	TBX20	ORPHA:99103
HP:0030872	Abnormal cardiac ventricular function	4624	MYH6	ORPHA:99103
HP:0030872	Abnormal cardiac ventricular function	1482	NKX2-5	ORPHA:99103
HP:0030872	Abnormal cardiac ventricular function	70	ACTC1	ORPHA:99103
HP:0030872	Abnormal cardiac ventricular function	10370	CITED2	ORPHA:99103
HP:0030872	Abnormal cardiac ventricular function	2626	GATA4	ORPHA:99103
HP:0030872	Abnormal cardiac ventricular function	2627	GATA6	ORPHA:99103
HP:0030872	Abnormal cardiac ventricular function	4000	LMNA	ORPHA:300751
HP:0030872	Abnormal cardiac ventricular function	4000	LMNA	OMIM:181350
HP:0030872	Abnormal cardiac ventricular function	54914	FOCAD	OMIM:619991
HP:0030872	Abnormal cardiac ventricular function	10585	POMT1	OMIM:613155
HP:0030872	Abnormal cardiac ventricular function	6389	SDHA	ORPHA:3208
HP:0030872	Abnormal cardiac ventricular function	6390	SDHB	ORPHA:3208
HP:0030872	Abnormal cardiac ventricular function	6392	SDHD	ORPHA:3208
HP:0030872	Abnormal cardiac ventricular function	644096	SDHAF1	ORPHA:3208
HP:0030872	Abnormal cardiac ventricular function	4629	MYH11	OMIM:132900
HP:0030872	Abnormal cardiac ventricular function	4629	MYH11	ORPHA:229
HP:0030872	Abnormal cardiac ventricular function	4629	MYH11	ORPHA:91387
HP:0030872	Abnormal cardiac ventricular function	84665	MYPN	ORPHA:75249
HP:0030872	Abnormal cardiac ventricular function	2318	FLNC	ORPHA:75249
HP:0030872	Abnormal cardiac ventricular function	7139	TNNT2	ORPHA:75249
HP:0030872	Abnormal cardiac ventricular function	7137	TNNI3	ORPHA:75249
HP:0030872	Abnormal cardiac ventricular function	10112	KIF20A	ORPHA:75249
HP:0030872	Abnormal cardiac ventricular function	55593	OTUD5	OMIM:301056
HP:0030872	Abnormal cardiac ventricular function	6288	SAA1	ORPHA:85445
HP:0030872	Abnormal cardiac ventricular function	11155	LDB3	ORPHA:98912
HP:0030872	Abnormal cardiac ventricular function	7046	TGFBR1	ORPHA:91387
HP:0030872	Abnormal cardiac ventricular function	7048	TGFBR2	ORPHA:91387
HP:0030872	Abnormal cardiac ventricular function	4015	LOX	ORPHA:91387
HP:0030872	Abnormal cardiac ventricular function	4087	SMAD2	ORPHA:91387
HP:0030872	Abnormal cardiac ventricular function	7043	TGFB3	ORPHA:91387
HP:0030872	Abnormal cardiac ventricular function	4088	SMAD3	ORPHA:91387
HP:0030872	Abnormal cardiac ventricular function	7042	TGFB2	ORPHA:91387
HP:0030872	Abnormal cardiac ventricular function	4089	SMAD4	ORPHA:91387
HP:0030872	Abnormal cardiac ventricular function	2200	FBN1	ORPHA:91387
HP:0030872	Abnormal cardiac ventricular function	59	ACTA2	ORPHA:91387
HP:0030872	Abnormal cardiac ventricular function	5592	PRKG1	ORPHA:91387
HP:0030872	Abnormal cardiac ventricular function	2301	FOXE3	ORPHA:91387
HP:0030872	Abnormal cardiac ventricular function	4144	MAT2A	ORPHA:91387
HP:0030872	Abnormal cardiac ventricular function	23493	HEY2	ORPHA:91387
HP:0030872	Abnormal cardiac ventricular function	8076	MFAP5	ORPHA:91387
HP:0030872	Abnormal cardiac ventricular function	4638	MYLK	ORPHA:91387
HP:0030872	Abnormal cardiac ventricular function	79875	THSD4	ORPHA:91387
HP:0030872	Abnormal cardiac ventricular function	2006	ELN	ORPHA:91387
HP:0030872	Abnormal cardiac ventricular function	79147	FKRP	OMIM:607155
HP:0030872	Abnormal cardiac ventricular function	3759	KCNJ2	OMIM:609622
HP:0030872	Abnormal cardiac ventricular function	7156	TOP3A	OMIM:618098
HP:0030872	Abnormal cardiac ventricular function	291	SLC25A4	ORPHA:254892
HP:0030872	Abnormal cardiac ventricular function	5428	POLG	ORPHA:254892
HP:0030872	Abnormal cardiac ventricular function	56652	TWNK	ORPHA:254892
HP:0030872	Abnormal cardiac ventricular function	11232	POLG2	ORPHA:254892
HP:0030872	Abnormal cardiac ventricular function	50484	RRM2B	ORPHA:254892
HP:0030872	Abnormal cardiac ventricular function	37	ACADVL	OMIM:201475
HP:0030872	Abnormal cardiac ventricular function	8291	DYSF	ORPHA:268
HP:0030872	Abnormal cardiac ventricular function	7276	TTR	ORPHA:85451
HP:0030872	Abnormal cardiac ventricular function	3908	LAMA2	ORPHA:258
HP:0030872	Abnormal cardiac ventricular function	388753	COA6	OMIM:616501
HP:0030872	Abnormal cardiac ventricular function	2702	GJA5	OMIM:614049
HP:0030872	Abnormal cardiac ventricular function	4634	MYL3	OMIM:608751
HP:0030872	Abnormal cardiac ventricular function	51778	MYOZ2	OMIM:613838
HP:0030872	Abnormal cardiac ventricular function	57505	AARS2	OMIM:614096
HP:0030872	Abnormal cardiac ventricular function	3762	KCNJ5	OMIM:613485
HP:0030872	Abnormal cardiac ventricular function	10699	CORIN	OMIM:620734
HP:0030872	Abnormal cardiac ventricular function	567	B2M	ORPHA:314652
HP:0030872	Abnormal cardiac ventricular function	3920	LAMP2	OMIM:300257
HP:0030872	Abnormal cardiac ventricular function	64121	RRAGC	OMIM:620609
HP:0030872	Abnormal cardiac ventricular function	51117	COQ4	OMIM:616276
HP:0030872	Abnormal cardiac ventricular function	2314	FLII	OMIM:620635
HP:0030872	Abnormal cardiac ventricular function	54148	MRPL39	OMIM:620646
HP:0030872	Abnormal cardiac ventricular function	79158	GNPTAB	OMIM:252600
HP:0030872	Abnormal cardiac ventricular function	84705	GTPBP3	ORPHA:444013
HP:0030872	Abnormal cardiac ventricular function	10269	ZMPSTE24	ORPHA:740
HP:0030872	Abnormal cardiac ventricular function	57538	ALPK3	OMIM:618052
HP:0030872	Abnormal cardiac ventricular function	171019	ADAMTS19	OMIM:620067
HP:0030872	Abnormal cardiac ventricular function	3156	HMGCR	OMIM:620375
HP:0030872	Abnormal cardiac ventricular function	63976	PRDM16	OMIM:615373
HP:0030872	Abnormal cardiac ventricular function	6445	SGCG	ORPHA:353
HP:0030872	Abnormal cardiac ventricular function	10486	CAP2	ORPHA:154
HP:0030872	Abnormal cardiac ventricular function	7716	VEZF1	ORPHA:154
HP:0030872	Abnormal cardiac ventricular function	10060	ABCC9	ORPHA:154
HP:0030872	Abnormal cardiac ventricular function	10060	ABCC9	OMIM:619719
HP:0030872	Abnormal cardiac ventricular function	7168	TPM1	ORPHA:154
HP:0030872	Abnormal cardiac ventricular function	27063	ANKRD1	ORPHA:154
HP:0030872	Abnormal cardiac ventricular function	1410	CRYAB	ORPHA:154
HP:0030872	Abnormal cardiac ventricular function	439	GET3	ORPHA:154
HP:0030872	Abnormal cardiac ventricular function	7273	TTN	ORPHA:154
HP:0030872	Abnormal cardiac ventricular function	5350	PLN	ORPHA:154
HP:0030872	Abnormal cardiac ventricular function	5664	PSEN2	ORPHA:154
HP:0030872	Abnormal cardiac ventricular function	9529	BAG5	ORPHA:154
HP:0030872	Abnormal cardiac ventricular function	4607	MYBPC3	ORPHA:154
HP:0030872	Abnormal cardiac ventricular function	2274	FHL2	ORPHA:154
HP:0030872	Abnormal cardiac ventricular function	1756	DMD	ORPHA:154
HP:0030872	Abnormal cardiac ventricular function	1674	DES	ORPHA:154
HP:0030872	Abnormal cardiac ventricular function	442721	LMOD2	ORPHA:154
HP:0030872	Abnormal cardiac ventricular function	8557	TCAP	ORPHA:154
HP:0030872	Abnormal cardiac ventricular function	57158	JPH2	ORPHA:154
HP:0030872	Abnormal cardiac ventricular function	9015	TAF1A	ORPHA:154
HP:0030872	Abnormal cardiac ventricular function	5663	PSEN1	ORPHA:154
HP:0030872	Abnormal cardiac ventricular function	7112	TMPO	ORPHA:154
HP:0030872	Abnormal cardiac ventricular function	9464	HAND2	ORPHA:154
HP:0030872	Abnormal cardiac ventricular function	4625	MYH7	ORPHA:154
HP:0030872	Abnormal cardiac ventricular function	88	ACTN2	ORPHA:154
HP:0030872	Abnormal cardiac ventricular function	7414	VCL	ORPHA:154
HP:0030872	Abnormal cardiac ventricular function	1832	DSP	ORPHA:154
HP:0030872	Abnormal cardiac ventricular function	6123	RPL3L	ORPHA:154
HP:0030872	Abnormal cardiac ventricular function	8048	CSRP3	ORPHA:154
HP:0030872	Abnormal cardiac ventricular function	1829	DSG2	ORPHA:154
HP:0030872	Abnormal cardiac ventricular function	3910	LAMA4	ORPHA:154
HP:0030872	Abnormal cardiac ventricular function	10587	TXNRD2	ORPHA:154
HP:0030872	Abnormal cardiac ventricular function	9531	BAG3	ORPHA:154
HP:0030872	Abnormal cardiac ventricular function	91624	NEXN	ORPHA:154
HP:0030872	Abnormal cardiac ventricular function	79717	PPCS	ORPHA:154
HP:0030872	Abnormal cardiac ventricular function	282996	RBM20	ORPHA:154
HP:0030872	Abnormal cardiac ventricular function	282996	RBM20	OMIM:613172
HP:0030872	Abnormal cardiac ventricular function	6901	TAFAZZIN	ORPHA:154
HP:0030872	Abnormal cardiac ventricular function	22845	DOLK	ORPHA:154
HP:0030872	Abnormal cardiac ventricular function	5894	RAF1	ORPHA:154
HP:0030872	Abnormal cardiac ventricular function	57798	GATAD1	ORPHA:154
HP:0030872	Abnormal cardiac ventricular function	7134	TNNC1	ORPHA:154
HP:0030872	Abnormal cardiac ventricular function	6444	SGCD	ORPHA:154
HP:0030872	Abnormal cardiac ventricular function	6331	SCN5A	ORPHA:154
HP:0030872	Abnormal cardiac ventricular function	2218	FKTN	ORPHA:154
HP:0030872	Abnormal cardiac ventricular function	5167	ENPP1	ORPHA:51608
HP:0030872	Abnormal cardiac ventricular function	368	ABCC6	ORPHA:51608
HP:0030872	Abnormal cardiac ventricular function	10848	PPP1R13L	OMIM:620519
HP:0030872	Abnormal cardiac ventricular function	29954	POMT2	OMIM:613156
HP:0030872	Abnormal cardiac ventricular function	29954	POMT2	ORPHA:206559
HP:0030872	Abnormal cardiac ventricular function	6533	SLC6A6	OMIM:145350
HP:0030872	Abnormal cardiac ventricular function	4052	LTBP1	ORPHA:90349
HP:0030872	Abnormal cardiac ventricular function	30008	EFEMP2	ORPHA:90349
HP:0030872	Abnormal cardiac ventricular function	10516	FBLN5	ORPHA:90349
HP:0030872	Abnormal cardiac ventricular function	54790	TET2	ORPHA:98826
HP:0030872	Abnormal cardiac ventricular function	4841	NONO	ORPHA:466791
HP:0030872	Abnormal cardiac ventricular function	1738	DLD	ORPHA:2394
HP:0030872	Abnormal cardiac ventricular function	2070	EYA4	ORPHA:217622
HP:0030872	Abnormal cardiac ventricular function	56244	BTNL2	ORPHA:797
HP:0030872	Abnormal cardiac ventricular function	3123	HLA-DRB1	ORPHA:797
HP:0030872	Abnormal cardiac ventricular function	2548	GAA	ORPHA:308552
HP:0030872	Abnormal cardiac ventricular function	80206	FHOD3	OMIM:619402
HP:0030872	Abnormal cardiac ventricular function	23118	TAB2	OMIM:614980
HP:0030872	Abnormal cardiac ventricular function	7026	NR2F2	OMIM:615779
HP:0030872	Abnormal cardiac ventricular function	54800	KLHL24	OMIM:620236
HP:0030872	Abnormal cardiac ventricular function	2657	GDF1	OMIM:613854
HP:0030872	Abnormal cardiac ventricular function	4878	NPPA	OMIM:612201
HP:0030872	Abnormal cardiac ventricular function	58528	RRAGD	OMIM:620152
HP:0000089	Renal hypoplasia	5290	PIK3CA	OMIM:612918
HP:0000089	Renal hypoplasia	22827	PUF60	ORPHA:508498
HP:0000089	Renal hypoplasia	22827	PUF60	OMIM:615583
HP:0000089	Renal hypoplasia	5076	PAX2	ORPHA:97362
HP:0000089	Renal hypoplasia	5076	PAX2	ORPHA:1475
HP:0000089	Renal hypoplasia	5076	PAX2	OMIM:616002
HP:0000089	Renal hypoplasia	5076	PAX2	OMIM:120330
HP:0000089	Renal hypoplasia	5087	PBX1	ORPHA:97362
HP:0000089	Renal hypoplasia	5087	PBX1	OMIM:617641
HP:0000089	Renal hypoplasia	54892	NCAPG2	OMIM:618460
HP:0000089	Renal hypoplasia	11020	IFT27	OMIM:615996
HP:0000089	Renal hypoplasia	1161	ERCC8	ORPHA:90324
HP:0000089	Renal hypoplasia	2074	ERCC6	ORPHA:90324
HP:0000089	Renal hypoplasia	100151683	RNU4ATAC	OMIM:210710
HP:0000089	Renal hypoplasia	4774	NFIA	OMIM:613735
HP:0000089	Renal hypoplasia	57167	SALL4	OMIM:607323
HP:0000089	Renal hypoplasia	4838	NODAL	OMIM:270100
HP:0000089	Renal hypoplasia	80144	FRAS1	OMIM:219000
HP:0000089	Renal hypoplasia	64220	STRA6	OMIM:601186
HP:0000089	Renal hypoplasia	64220	STRA6	ORPHA:2470
HP:0000089	Renal hypoplasia	6299	SALL1	OMIM:107480
HP:0000089	Renal hypoplasia	6299	SALL1	ORPHA:857
HP:0000089	Renal hypoplasia	55112	DYNC2I1	ORPHA:93271
HP:0000089	Renal hypoplasia	57560	IFT80	ORPHA:93271
HP:0000089	Renal hypoplasia	57539	WDR35	ORPHA:93271
HP:0000089	Renal hypoplasia	57539	WDR35	OMIM:614091
HP:0000089	Renal hypoplasia	79659	DYNC2H1	ORPHA:93271
HP:0000089	Renal hypoplasia	89891	DYNC2I2	ORPHA:93271
HP:0000089	Renal hypoplasia	23498	HAAO	OMIM:617660
HP:0000089	Renal hypoplasia	55159	RFWD3	OMIM:617784
HP:0000089	Renal hypoplasia	8942	KYNU	OMIM:617661
HP:0000089	Renal hypoplasia	8882	ZPR1	OMIM:619321
HP:0000089	Renal hypoplasia	473	RERE	OMIM:616975
HP:0000089	Renal hypoplasia	3313	HSPA9	OMIM:616854
HP:0000089	Renal hypoplasia	55215	FANCI	OMIM:609053
HP:0000089	Renal hypoplasia	341640	FREM2	OMIM:617666
HP:0000089	Renal hypoplasia	23291	FBXW11	OMIM:618914
HP:0000089	Renal hypoplasia	23524	SRRM2	OMIM:620439
HP:0000089	Renal hypoplasia	29927	SEC61A1	OMIM:620674
HP:0000089	Renal hypoplasia	6092	ROBO2	OMIM:610878
HP:0000089	Renal hypoplasia	6926	TBX3	ORPHA:3138
HP:0000089	Renal hypoplasia	2188	FANCF	OMIM:603467
HP:0000089	Renal hypoplasia	84987	COX14	OMIM:619053
HP:0000089	Renal hypoplasia	57492	ARID1B	OMIM:135900
HP:0000089	Renal hypoplasia	4509	MT-ATP8	ORPHA:254913
HP:0000089	Renal hypoplasia	514	ATP5F1E	ORPHA:254913
HP:0000089	Renal hypoplasia	513	ATP5F1D	ORPHA:254913
HP:0000089	Renal hypoplasia	498	ATP5F1A	ORPHA:254913
HP:0000089	Renal hypoplasia	4508	MT-ATP6	ORPHA:254913
HP:0000089	Renal hypoplasia	84833	ATP5MK	ORPHA:254913
HP:0000089	Renal hypoplasia	91647	ATPAF2	ORPHA:254913
HP:0000089	Renal hypoplasia	91647	ATPAF2	OMIM:604273
HP:0000089	Renal hypoplasia	3899	AFF3	OMIM:619297
HP:0000089	Renal hypoplasia	54496	PRMT7	OMIM:617157
HP:0000089	Renal hypoplasia	54496	PRMT7	ORPHA:464288
HP:0000089	Renal hypoplasia	6928	HNF1B	OMIM:137920
HP:0000089	Renal hypoplasia	54567	DLL4	OMIM:616589
HP:0000089	Renal hypoplasia	1312	COMT	ORPHA:567
HP:0000089	Renal hypoplasia	221037	JMJD1C	ORPHA:567
HP:0000089	Renal hypoplasia	2812	GP1BB	ORPHA:567
HP:0000089	Renal hypoplasia	6239	RREB1	ORPHA:567
HP:0000089	Renal hypoplasia	6899	TBX1	ORPHA:567
HP:0000089	Renal hypoplasia	7290	HIRA	ORPHA:567
HP:0000089	Renal hypoplasia	9632	SEC24C	ORPHA:567
HP:0000089	Renal hypoplasia	7353	UFD1	ORPHA:567
HP:0000089	Renal hypoplasia	421	ARVCF	ORPHA:567
HP:0000089	Renal hypoplasia	25778	DSTYK	OMIM:610805
HP:0000089	Renal hypoplasia	1717	DHCR7	OMIM:270400
HP:0000089	Renal hypoplasia	652	BMP4	OMIM:607932
HP:0000089	Renal hypoplasia	8091	HMGA2	ORPHA:94063
HP:0000089	Renal hypoplasia	23592	LEMD3	ORPHA:94063
HP:0000089	Renal hypoplasia	1822	ATN1	OMIM:618494
HP:0000089	Renal hypoplasia	5147	PDE6D	OMIM:615665
HP:0000089	Renal hypoplasia	55636	CHD7	OMIM:214800
HP:0000089	Renal hypoplasia	79633	FAT4	OMIM:615546
HP:0000089	Renal hypoplasia	79633	FAT4	ORPHA:314679
HP:0000089	Renal hypoplasia	4582	MUC1	OMIM:174000
HP:0000089	Renal hypoplasia	8642	DCHS1	OMIM:601390
HP:0000089	Renal hypoplasia	8642	DCHS1	ORPHA:314679
HP:0000089	Renal hypoplasia	9096	TBX18	OMIM:143400
HP:0000089	Renal hypoplasia	2737	GLI3	OMIM:146510
HP:0000089	Renal hypoplasia	5972	REN	OMIM:613092
HP:0000089	Renal hypoplasia	54880	BCOR	OMIM:309800
HP:0000089	Renal hypoplasia	8260	NAA10	OMIM:309800
HP:0000089	Renal hypoplasia	145173	B3GLCT	OMIM:261540
HP:0000089	Renal hypoplasia	6804	STX1A	ORPHA:904
HP:0000089	Renal hypoplasia	7461	CLIP2	ORPHA:904
HP:0000089	Renal hypoplasia	84277	DNAJC30	ORPHA:904
HP:0000089	Renal hypoplasia	8468	FKBP6	ORPHA:904
HP:0000089	Renal hypoplasia	5982	RFC2	ORPHA:904
HP:0000089	Renal hypoplasia	2969	GTF2I	ORPHA:904
HP:0000089	Renal hypoplasia	3984	LIMK1	ORPHA:904
HP:0000089	Renal hypoplasia	9569	GTF2IRD1	ORPHA:904
HP:0000089	Renal hypoplasia	155382	VPS37D	ORPHA:904
HP:0000089	Renal hypoplasia	155368	METTL27	ORPHA:904
HP:0000089	Renal hypoplasia	114049	BUD23	ORPHA:904
HP:0000089	Renal hypoplasia	7458	EIF4H	ORPHA:904
HP:0000089	Renal hypoplasia	84163	GTF2IRD2	ORPHA:904
HP:0000089	Renal hypoplasia	26608	TBL2	ORPHA:904
HP:0000089	Renal hypoplasia	653361	NCF1	ORPHA:904
HP:0000089	Renal hypoplasia	135886	TMEM270	ORPHA:904
HP:0000089	Renal hypoplasia	9031	BAZ1B	ORPHA:904
HP:0000089	Renal hypoplasia	2006	ELN	ORPHA:904
HP:0000089	Renal hypoplasia	2006	ELN	OMIM:194050
HP:0000089	Renal hypoplasia	8364	H4C3	OMIM:619758
HP:0000089	Renal hypoplasia	55165	CEP55	OMIM:236500
HP:0000089	Renal hypoplasia	10907	TXNL4A	OMIM:608572
HP:0000089	Renal hypoplasia	8204	NRIP1	OMIM:618270
HP:0000089	Renal hypoplasia	284252	KCTD1	OMIM:181270
HP:0000089	Renal hypoplasia	374879	ZNF699	OMIM:619488
HP:0000089	Renal hypoplasia	9928	KIF14	OMIM:616258
HP:0000089	Renal hypoplasia	9928	KIF14	OMIM:617914
HP:0000089	Renal hypoplasia	51473	DCDC2	ORPHA:84081
HP:0000089	Renal hypoplasia	91147	TMEM67	ORPHA:84081
HP:0000089	Renal hypoplasia	182	JAG1	OMIM:118450
HP:0000089	Renal hypoplasia	3708	ITPR1	OMIM:117360
HP:0000089	Renal hypoplasia	2263	FGFR2	ORPHA:2363
HP:0000089	Renal hypoplasia	2261	FGFR3	ORPHA:2363
HP:0000089	Renal hypoplasia	2255	FGF10	ORPHA:2363
HP:0000089	Renal hypoplasia	51339	DACT1	ORPHA:857
HP:0000089	Renal hypoplasia	84919	PPP1R15B	OMIM:616817
HP:0000089	Renal hypoplasia	51085	MLXIPL	OMIM:194050
HP:0000089	Renal hypoplasia	63895	PIEZO2	OMIM:248700
HP:0000089	Renal hypoplasia	7369	UMOD	OMIM:162000
HP:0000089	Renal hypoplasia	10084	PQBP1	OMIM:309500
HP:0000089	Renal hypoplasia	7477	WNT7B	ORPHA:2470
HP:0000089	Renal hypoplasia	5915	RARB	ORPHA:2470
HP:0000089	Renal hypoplasia	55120	FANCL	OMIM:614083
HP:0000089	Renal hypoplasia	153241	CEP120	OMIM:616300
HP:0000089	Renal hypoplasia	7518	XRCC4	OMIM:616541
HP:0000089	Renal hypoplasia	4193	MDM2	OMIM:618681
HP:0000089	Renal hypoplasia	10463	SLC30A9	OMIM:617595
HP:0000089	Renal hypoplasia	51360	MBTPS2	ORPHA:85284
HP:0000089	Renal hypoplasia	546	ATRX	OMIM:309580
HP:0000089	Renal hypoplasia	5885	RAD21	OMIM:611376
HP:0000089	Renal hypoplasia	25836	NIPBL	OMIM:122470
HP:0000089	Renal hypoplasia	50628	GEMIN4	OMIM:617913
HP:0000089	Renal hypoplasia	55005	RMND1	OMIM:614922
HP:0000089	Renal hypoplasia	5557	PRIM1	OMIM:620005
HP:0000089	Renal hypoplasia	4853	NOTCH2	OMIM:610205
HP:0000089	Renal hypoplasia	84100	ARL6	OMIM:600151
HP:0000089	Renal hypoplasia	6223	RPS19	OMIM:105650
HP:0000089	Renal hypoplasia	8295	TRRAP	OMIM:618454
HP:0000089	Renal hypoplasia	9652	SKIC3	ORPHA:84064
HP:0000089	Renal hypoplasia	6499	SKIC2	ORPHA:84064
HP:0000089	Renal hypoplasia	57728	WDR19	OMIM:614376
HP:0000089	Renal hypoplasia	57728	WDR19	OMIM:614377
HP:0000089	Renal hypoplasia	4654	MYOD1	OMIM:618975
HP:0000089	Renal hypoplasia	5908	RAP1B	OMIM:620654
HP:0000089	Renal hypoplasia	27152	INTU	OMIM:617926
HP:0000089	Renal hypoplasia	3762	KCNJ5	ORPHA:37553
HP:0000089	Renal hypoplasia	3759	KCNJ2	ORPHA:37553
HP:0000089	Renal hypoplasia	4038	LRP4	OMIM:212780
HP:0000089	Renal hypoplasia	8085	KMT2D	OMIM:147920
HP:0000089	Renal hypoplasia	7403	KDM6A	OMIM:147920
HP:0000089	Renal hypoplasia	5361	PLXNA1	OMIM:619955
HP:0000089	Renal hypoplasia	26005	C2CD3	OMIM:615948
HP:0000089	Renal hypoplasia	8367	H4C5	OMIM:619950
HP:0000089	Renal hypoplasia	4174	MCM5	OMIM:617564
HP:0000089	Renal hypoplasia	3265	HRAS	ORPHA:2874
HP:0000089	Renal hypoplasia	1063	CENPF	OMIM:243605
HP:0000089	Renal hypoplasia	7468	NSD2	OMIM:619695
HP:0004743	Chronic tubulointerstitial nephritis	57728	WDR19	OMIM:614376
HP:0004743	Chronic tubulointerstitial nephritis	27130	INVS	OMIM:602088
HP:0008678	Renal hypoplasia/aplasia	22827	PUF60	ORPHA:508498
HP:0008678	Renal hypoplasia/aplasia	22827	PUF60	OMIM:615583
HP:0008678	Renal hypoplasia/aplasia	5076	PAX2	ORPHA:97362
HP:0008678	Renal hypoplasia/aplasia	5076	PAX2	ORPHA:1475
HP:0008678	Renal hypoplasia/aplasia	5076	PAX2	OMIM:616002
HP:0008678	Renal hypoplasia/aplasia	5076	PAX2	OMIM:120330
HP:0008678	Renal hypoplasia/aplasia	5087	PBX1	ORPHA:97362
HP:0008678	Renal hypoplasia/aplasia	5087	PBX1	OMIM:617641
HP:0008678	Renal hypoplasia/aplasia	54892	NCAPG2	OMIM:618460
HP:0008678	Renal hypoplasia/aplasia	11020	IFT27	OMIM:615996
HP:0008678	Renal hypoplasia/aplasia	1161	ERCC8	ORPHA:90324
HP:0008678	Renal hypoplasia/aplasia	2074	ERCC6	ORPHA:90324
HP:0008678	Renal hypoplasia/aplasia	100151683	RNU4ATAC	OMIM:210710
HP:0008678	Renal hypoplasia/aplasia	4774	NFIA	OMIM:613735
HP:0008678	Renal hypoplasia/aplasia	4838	NODAL	OMIM:270100
HP:0008678	Renal hypoplasia/aplasia	64220	STRA6	OMIM:601186
HP:0008678	Renal hypoplasia/aplasia	64220	STRA6	ORPHA:2470
HP:0008678	Renal hypoplasia/aplasia	6299	SALL1	OMIM:107480
HP:0008678	Renal hypoplasia/aplasia	6299	SALL1	ORPHA:857
HP:0008678	Renal hypoplasia/aplasia	55112	DYNC2I1	ORPHA:93271
HP:0008678	Renal hypoplasia/aplasia	57560	IFT80	ORPHA:93271
HP:0008678	Renal hypoplasia/aplasia	57539	WDR35	ORPHA:93271
HP:0008678	Renal hypoplasia/aplasia	57539	WDR35	OMIM:614091
HP:0008678	Renal hypoplasia/aplasia	79659	DYNC2H1	ORPHA:93271
HP:0008678	Renal hypoplasia/aplasia	89891	DYNC2I2	ORPHA:93271
HP:0008678	Renal hypoplasia/aplasia	23498	HAAO	OMIM:617660
HP:0008678	Renal hypoplasia/aplasia	8942	KYNU	OMIM:617661
HP:0008678	Renal hypoplasia/aplasia	8882	ZPR1	OMIM:619321
HP:0008678	Renal hypoplasia/aplasia	473	RERE	OMIM:616975
HP:0008678	Renal hypoplasia/aplasia	3313	HSPA9	OMIM:616854
HP:0008678	Renal hypoplasia/aplasia	23291	FBXW11	OMIM:618914
HP:0008678	Renal hypoplasia/aplasia	23524	SRRM2	OMIM:620439
HP:0008678	Renal hypoplasia/aplasia	29927	SEC61A1	OMIM:620674
HP:0008678	Renal hypoplasia/aplasia	6092	ROBO2	OMIM:610878
HP:0008678	Renal hypoplasia/aplasia	6926	TBX3	ORPHA:3138
HP:0008678	Renal hypoplasia/aplasia	84987	COX14	OMIM:619053
HP:0008678	Renal hypoplasia/aplasia	57492	ARID1B	OMIM:135900
HP:0008678	Renal hypoplasia/aplasia	4509	MT-ATP8	ORPHA:254913
HP:0008678	Renal hypoplasia/aplasia	514	ATP5F1E	ORPHA:254913
HP:0008678	Renal hypoplasia/aplasia	513	ATP5F1D	ORPHA:254913
HP:0008678	Renal hypoplasia/aplasia	498	ATP5F1A	ORPHA:254913
HP:0008678	Renal hypoplasia/aplasia	4508	MT-ATP6	ORPHA:254913
HP:0008678	Renal hypoplasia/aplasia	84833	ATP5MK	ORPHA:254913
HP:0008678	Renal hypoplasia/aplasia	91647	ATPAF2	ORPHA:254913
HP:0008678	Renal hypoplasia/aplasia	91647	ATPAF2	OMIM:604273
HP:0008678	Renal hypoplasia/aplasia	3899	AFF3	OMIM:619297
HP:0008678	Renal hypoplasia/aplasia	54496	PRMT7	OMIM:617157
HP:0008678	Renal hypoplasia/aplasia	54496	PRMT7	ORPHA:464288
HP:0008678	Renal hypoplasia/aplasia	54567	DLL4	OMIM:616589
HP:0008678	Renal hypoplasia/aplasia	1312	COMT	ORPHA:567
HP:0008678	Renal hypoplasia/aplasia	221037	JMJD1C	ORPHA:567
HP:0008678	Renal hypoplasia/aplasia	2812	GP1BB	ORPHA:567
HP:0008678	Renal hypoplasia/aplasia	6239	RREB1	ORPHA:567
HP:0008678	Renal hypoplasia/aplasia	6899	TBX1	ORPHA:567
HP:0008678	Renal hypoplasia/aplasia	7290	HIRA	ORPHA:567
HP:0008678	Renal hypoplasia/aplasia	9632	SEC24C	ORPHA:567
HP:0008678	Renal hypoplasia/aplasia	7353	UFD1	ORPHA:567
HP:0008678	Renal hypoplasia/aplasia	421	ARVCF	ORPHA:567
HP:0008678	Renal hypoplasia/aplasia	25778	DSTYK	OMIM:610805
HP:0008678	Renal hypoplasia/aplasia	652	BMP4	OMIM:607932
HP:0008678	Renal hypoplasia/aplasia	8091	HMGA2	ORPHA:94063
HP:0008678	Renal hypoplasia/aplasia	23592	LEMD3	ORPHA:94063
HP:0008678	Renal hypoplasia/aplasia	1822	ATN1	OMIM:618494
HP:0008678	Renal hypoplasia/aplasia	55636	CHD7	OMIM:214800
HP:0008678	Renal hypoplasia/aplasia	79633	FAT4	OMIM:615546
HP:0008678	Renal hypoplasia/aplasia	79633	FAT4	ORPHA:314679
HP:0008678	Renal hypoplasia/aplasia	4582	MUC1	OMIM:174000
HP:0008678	Renal hypoplasia/aplasia	8642	DCHS1	OMIM:601390
HP:0008678	Renal hypoplasia/aplasia	8642	DCHS1	ORPHA:314679
HP:0008678	Renal hypoplasia/aplasia	9096	TBX18	OMIM:143400
HP:0008678	Renal hypoplasia/aplasia	2737	GLI3	OMIM:146510
HP:0008678	Renal hypoplasia/aplasia	5972	REN	OMIM:613092
HP:0008678	Renal hypoplasia/aplasia	6804	STX1A	ORPHA:904
HP:0008678	Renal hypoplasia/aplasia	7461	CLIP2	ORPHA:904
HP:0008678	Renal hypoplasia/aplasia	84277	DNAJC30	ORPHA:904
HP:0008678	Renal hypoplasia/aplasia	8468	FKBP6	ORPHA:904
HP:0008678	Renal hypoplasia/aplasia	5982	RFC2	ORPHA:904
HP:0008678	Renal hypoplasia/aplasia	2969	GTF2I	ORPHA:904
HP:0008678	Renal hypoplasia/aplasia	3984	LIMK1	ORPHA:904
HP:0008678	Renal hypoplasia/aplasia	9569	GTF2IRD1	ORPHA:904
HP:0008678	Renal hypoplasia/aplasia	155382	VPS37D	ORPHA:904
HP:0008678	Renal hypoplasia/aplasia	155368	METTL27	ORPHA:904
HP:0008678	Renal hypoplasia/aplasia	114049	BUD23	ORPHA:904
HP:0008678	Renal hypoplasia/aplasia	7458	EIF4H	ORPHA:904
HP:0008678	Renal hypoplasia/aplasia	84163	GTF2IRD2	ORPHA:904
HP:0008678	Renal hypoplasia/aplasia	26608	TBL2	ORPHA:904
HP:0008678	Renal hypoplasia/aplasia	653361	NCF1	ORPHA:904
HP:0008678	Renal hypoplasia/aplasia	135886	TMEM270	ORPHA:904
HP:0008678	Renal hypoplasia/aplasia	9031	BAZ1B	ORPHA:904
HP:0008678	Renal hypoplasia/aplasia	2006	ELN	ORPHA:904
HP:0008678	Renal hypoplasia/aplasia	2006	ELN	OMIM:194050
HP:0008678	Renal hypoplasia/aplasia	8364	H4C3	OMIM:619758
HP:0008678	Renal hypoplasia/aplasia	55165	CEP55	OMIM:236500
HP:0008678	Renal hypoplasia/aplasia	10907	TXNL4A	OMIM:608572
HP:0008678	Renal hypoplasia/aplasia	8204	NRIP1	OMIM:618270
HP:0008678	Renal hypoplasia/aplasia	284252	KCTD1	OMIM:181270
HP:0008678	Renal hypoplasia/aplasia	374879	ZNF699	OMIM:619488
HP:0008678	Renal hypoplasia/aplasia	9928	KIF14	OMIM:616258
HP:0008678	Renal hypoplasia/aplasia	9928	KIF14	OMIM:617914
HP:0008678	Renal hypoplasia/aplasia	51473	DCDC2	ORPHA:84081
HP:0008678	Renal hypoplasia/aplasia	91147	TMEM67	ORPHA:84081
HP:0008678	Renal hypoplasia/aplasia	182	JAG1	OMIM:118450
HP:0008678	Renal hypoplasia/aplasia	3708	ITPR1	OMIM:117360
HP:0008678	Renal hypoplasia/aplasia	2263	FGFR2	ORPHA:2363
HP:0008678	Renal hypoplasia/aplasia	2261	FGFR3	ORPHA:2363
HP:0008678	Renal hypoplasia/aplasia	2255	FGF10	ORPHA:2363
HP:0008678	Renal hypoplasia/aplasia	51339	DACT1	ORPHA:857
HP:0008678	Renal hypoplasia/aplasia	84919	PPP1R15B	OMIM:616817
HP:0008678	Renal hypoplasia/aplasia	51085	MLXIPL	OMIM:194050
HP:0008678	Renal hypoplasia/aplasia	7369	UMOD	OMIM:162000
HP:0008678	Renal hypoplasia/aplasia	10084	PQBP1	OMIM:309500
HP:0008678	Renal hypoplasia/aplasia	7477	WNT7B	ORPHA:2470
HP:0008678	Renal hypoplasia/aplasia	5915	RARB	ORPHA:2470
HP:0008678	Renal hypoplasia/aplasia	153241	CEP120	OMIM:616300
HP:0008678	Renal hypoplasia/aplasia	7518	XRCC4	OMIM:616541
HP:0008678	Renal hypoplasia/aplasia	4193	MDM2	OMIM:618681
HP:0008678	Renal hypoplasia/aplasia	10463	SLC30A9	OMIM:617595
HP:0008678	Renal hypoplasia/aplasia	51360	MBTPS2	ORPHA:85284
HP:0008678	Renal hypoplasia/aplasia	546	ATRX	OMIM:309580
HP:0008678	Renal hypoplasia/aplasia	5885	RAD21	OMIM:611376
HP:0008678	Renal hypoplasia/aplasia	25836	NIPBL	OMIM:122470
HP:0008678	Renal hypoplasia/aplasia	50628	GEMIN4	OMIM:617913
HP:0008678	Renal hypoplasia/aplasia	55005	RMND1	OMIM:614922
HP:0008678	Renal hypoplasia/aplasia	5557	PRIM1	OMIM:620005
HP:0008678	Renal hypoplasia/aplasia	4853	NOTCH2	OMIM:610205
HP:0008678	Renal hypoplasia/aplasia	84100	ARL6	OMIM:600151
HP:0008678	Renal hypoplasia/aplasia	6223	RPS19	OMIM:105650
HP:0008678	Renal hypoplasia/aplasia	8295	TRRAP	OMIM:618454
HP:0008678	Renal hypoplasia/aplasia	9652	SKIC3	ORPHA:84064
HP:0008678	Renal hypoplasia/aplasia	6499	SKIC2	ORPHA:84064
HP:0008678	Renal hypoplasia/aplasia	57728	WDR19	OMIM:614376
HP:0008678	Renal hypoplasia/aplasia	57728	WDR19	OMIM:614377
HP:0008678	Renal hypoplasia/aplasia	4654	MYOD1	OMIM:618975
HP:0008678	Renal hypoplasia/aplasia	5908	RAP1B	OMIM:620654
HP:0008678	Renal hypoplasia/aplasia	27152	INTU	OMIM:617926
HP:0008678	Renal hypoplasia/aplasia	3762	KCNJ5	ORPHA:37553
HP:0008678	Renal hypoplasia/aplasia	3759	KCNJ2	ORPHA:37553
HP:0008678	Renal hypoplasia/aplasia	11113	CIT	OMIM:617090
HP:0008678	Renal hypoplasia/aplasia	25970	SH2B1	ORPHA:261222
HP:0008678	Renal hypoplasia/aplasia	10806	SDCCAG8	OMIM:615993
HP:0008678	Renal hypoplasia/aplasia	54361	WNT4	ORPHA:247768
HP:0008678	Renal hypoplasia/aplasia	54361	WNT4	ORPHA:2578
HP:0008678	Renal hypoplasia/aplasia	54361	WNT4	OMIM:611812
HP:0008678	Renal hypoplasia/aplasia	54361	WNT4	ORPHA:139466
HP:0008678	Renal hypoplasia/aplasia	158326	FREM1	ORPHA:217266
HP:0008678	Renal hypoplasia/aplasia	158326	FREM1	OMIM:608980
HP:0008678	Renal hypoplasia/aplasia	5979	RET	ORPHA:1848
HP:0008678	Renal hypoplasia/aplasia	8516	ITGA8	ORPHA:1848
HP:0008678	Renal hypoplasia/aplasia	26281	FGF20	ORPHA:1848
HP:0008678	Renal hypoplasia/aplasia	2674	GFRA1	ORPHA:1848
HP:0008678	Renal hypoplasia/aplasia	7484	WNT9B	ORPHA:1848
HP:0008678	Renal hypoplasia/aplasia	80000	GREB1L	ORPHA:1848
HP:0008678	Renal hypoplasia/aplasia	80000	GREB1L	OMIM:617805
HP:0008678	Renal hypoplasia/aplasia	10992	SF3B2	OMIM:164210
HP:0008678	Renal hypoplasia/aplasia	81839	VANGL1	ORPHA:3027
HP:0008678	Renal hypoplasia/aplasia	80199	FUZ	ORPHA:3027
HP:0008678	Renal hypoplasia/aplasia	64324	NSD1	ORPHA:821
HP:0008678	Renal hypoplasia/aplasia	10297	APC2	ORPHA:821
HP:0008678	Renal hypoplasia/aplasia	57465	TBC1D24	OMIM:220500
HP:0008678	Renal hypoplasia/aplasia	7750	ZMYM2	OMIM:619522
HP:0008678	Renal hypoplasia/aplasia	92002	CCNQ	ORPHA:140952
HP:0008678	Renal hypoplasia/aplasia	4149	MAX	OMIM:620712
HP:0008678	Renal hypoplasia/aplasia	10847	SRCAP	ORPHA:2044
HP:0008678	Renal hypoplasia/aplasia	79971	WLS	OMIM:619648
HP:0008678	Renal hypoplasia/aplasia	7547	ZIC3	OMIM:306955
HP:0008678	Renal hypoplasia/aplasia	2260	FGFR1	ORPHA:280200
HP:0008678	Renal hypoplasia/aplasia	2260	FGFR1	ORPHA:478
HP:0008678	Renal hypoplasia/aplasia	28514	DLL1	ORPHA:280200
HP:0008678	Renal hypoplasia/aplasia	2253	FGF8	ORPHA:280200
HP:0008678	Renal hypoplasia/aplasia	2253	FGF8	ORPHA:478
HP:0008678	Renal hypoplasia/aplasia	6496	SIX3	ORPHA:280200
HP:0008678	Renal hypoplasia/aplasia	7050	TGIF1	ORPHA:280200
HP:0008678	Renal hypoplasia/aplasia	6469	SHH	ORPHA:280200
HP:0008678	Renal hypoplasia/aplasia	51684	SUFU	ORPHA:280200
HP:0008678	Renal hypoplasia/aplasia	7546	ZIC2	ORPHA:280200
HP:0008678	Renal hypoplasia/aplasia	2619	GAS1	ORPHA:280200
HP:0008678	Renal hypoplasia/aplasia	84976	DISP1	ORPHA:280200
HP:0008678	Renal hypoplasia/aplasia	2736	GLI2	ORPHA:280200
HP:0008678	Renal hypoplasia/aplasia	8928	FOXH1	ORPHA:280200
HP:0008678	Renal hypoplasia/aplasia	6997	CRIPTO	ORPHA:280200
HP:0008678	Renal hypoplasia/aplasia	5727	PTCH1	ORPHA:280200
HP:0008678	Renal hypoplasia/aplasia	50937	CDON	ORPHA:280200
HP:0008678	Renal hypoplasia/aplasia	5286	PIK3C2A	OMIM:618440
HP:0008678	Renal hypoplasia/aplasia	7473	WNT3	OMIM:273395
HP:0008678	Renal hypoplasia/aplasia	3239	HOXD13	ORPHA:887
HP:0008678	Renal hypoplasia/aplasia	7020	TFAP2A	OMIM:113620
HP:0008678	Renal hypoplasia/aplasia	7020	TFAP2A	ORPHA:1297
HP:0008678	Renal hypoplasia/aplasia	6138	RPL15	ORPHA:124
HP:0008678	Renal hypoplasia/aplasia	6224	RPS20	ORPHA:124
HP:0008678	Renal hypoplasia/aplasia	6165	RPL35A	ORPHA:124
HP:0008678	Renal hypoplasia/aplasia	6132	RPL8	ORPHA:124
HP:0008678	Renal hypoplasia/aplasia	6232	RPS27	ORPHA:124
HP:0008678	Renal hypoplasia/aplasia	55027	HEATR3	ORPHA:124
HP:0008678	Renal hypoplasia/aplasia	6160	RPL31	ORPHA:124
HP:0008678	Renal hypoplasia/aplasia	6201	RPS7	ORPHA:124
HP:0008678	Renal hypoplasia/aplasia	6155	RPL27	ORPHA:124
HP:0008678	Renal hypoplasia/aplasia	6234	RPS28	ORPHA:124
HP:0008678	Renal hypoplasia/aplasia	6135	RPL11	ORPHA:124
HP:0008678	Renal hypoplasia/aplasia	6229	RPS24	ORPHA:124
HP:0008678	Renal hypoplasia/aplasia	6125	RPL5	ORPHA:124
HP:0008678	Renal hypoplasia/aplasia	6204	RPS10	ORPHA:124
HP:0008678	Renal hypoplasia/aplasia	2623	GATA1	ORPHA:124
HP:0008678	Renal hypoplasia/aplasia	6133	RPL9	ORPHA:124
HP:0008678	Renal hypoplasia/aplasia	6231	RPS26	ORPHA:124
HP:0008678	Renal hypoplasia/aplasia	11224	RPL35	ORPHA:124
HP:0008678	Renal hypoplasia/aplasia	6218	RPS17	ORPHA:124
HP:0008678	Renal hypoplasia/aplasia	6154	RPL26	ORPHA:124
HP:0008678	Renal hypoplasia/aplasia	6210	RPS15A	ORPHA:124
HP:0008678	Renal hypoplasia/aplasia	90121	TSR2	ORPHA:124
HP:0008678	Renal hypoplasia/aplasia	6141	RPL18	ORPHA:124
HP:0008678	Renal hypoplasia/aplasia	6235	RPS29	ORPHA:124
HP:0008678	Renal hypoplasia/aplasia	51816	ADA2	ORPHA:124
HP:0008678	Renal hypoplasia/aplasia	54903	MKS1	OMIM:249000
HP:0008678	Renal hypoplasia/aplasia	51729	WBP11	OMIM:619227
HP:0008678	Renal hypoplasia/aplasia	3640	INSL3	OMIM:219050
HP:0008678	Renal hypoplasia/aplasia	10371	SEMA3A	ORPHA:478
HP:0008678	Renal hypoplasia/aplasia	81848	SPRY4	ORPHA:478
HP:0008678	Renal hypoplasia/aplasia	23767	FLRT3	ORPHA:478
HP:0008678	Renal hypoplasia/aplasia	128674	PROKR2	ORPHA:478
HP:0008678	Renal hypoplasia/aplasia	79625	NDNF	ORPHA:478
HP:0008678	Renal hypoplasia/aplasia	389549	FEZF1	ORPHA:478
HP:0008678	Renal hypoplasia/aplasia	1630	DCC	ORPHA:478
HP:0008678	Renal hypoplasia/aplasia	3730	ANOS1	ORPHA:478
HP:0008678	Renal hypoplasia/aplasia	54756	IL17RD	ORPHA:478
HP:0008678	Renal hypoplasia/aplasia	6663	SOX10	ORPHA:478
HP:0008678	Renal hypoplasia/aplasia	285025	CCDC141	ORPHA:478
HP:0008678	Renal hypoplasia/aplasia	60675	PROK2	ORPHA:478
HP:0008678	Renal hypoplasia/aplasia	1848	DUSP6	ORPHA:478
HP:0008678	Renal hypoplasia/aplasia	6870	TACR3	ORPHA:478
HP:0008678	Renal hypoplasia/aplasia	55717	WDR11	ORPHA:478
HP:0008678	Renal hypoplasia/aplasia	9394	HS6ST1	ORPHA:478
HP:0008678	Renal hypoplasia/aplasia	8820	HESX1	ORPHA:478
HP:0008678	Renal hypoplasia/aplasia	8822	FGF17	ORPHA:478
HP:0008678	Renal hypoplasia/aplasia	26227	PHGDH	OMIM:256520
HP:0008678	Renal hypoplasia/aplasia	8294	H4C9	OMIM:619951
HP:0008678	Renal hypoplasia/aplasia	1859	DYRK1A	ORPHA:268261
HP:0008678	Renal hypoplasia/aplasia	1859	DYRK1A	ORPHA:464311
HP:0008678	Renal hypoplasia/aplasia	55503	TRPV6	OMIM:618188
HP:0008678	Renal hypoplasia/aplasia	6091	ROBO1	OMIM:620305
HP:0008678	Renal hypoplasia/aplasia	5832	ALDH18A1	OMIM:616603
HP:0008678	Renal hypoplasia/aplasia	5832	ALDH18A1	ORPHA:90348
HP:0008678	Renal hypoplasia/aplasia	91801	ALKBH8	OMIM:618504
HP:0008678	Renal hypoplasia/aplasia	8496	PPFIBP1	OMIM:620024
HP:0008678	Renal hypoplasia/aplasia	5447	POR	ORPHA:95699
HP:0008678	Renal hypoplasia/aplasia	6651	SON	OMIM:617140
HP:0008678	Renal hypoplasia/aplasia	6651	SON	ORPHA:500150
HP:0008678	Renal hypoplasia/aplasia	998	CDC42	OMIM:616737
HP:0008678	Renal hypoplasia/aplasia	998	CDC42	ORPHA:487796
HP:0008678	Renal hypoplasia/aplasia	3417	IDH1	ORPHA:99646
HP:0008678	Renal hypoplasia/aplasia	50814	NSDHL	OMIM:308050
HP:0008678	Renal hypoplasia/aplasia	412	STS	ORPHA:281090
HP:0008678	Renal hypoplasia/aplasia	57511	COG6	OMIM:614576
HP:0008678	Renal hypoplasia/aplasia	55012	PPP2R3C	OMIM:618419
HP:0008678	Renal hypoplasia/aplasia	2783	GNB2	OMIM:619503
HP:0008678	Renal hypoplasia/aplasia	26057	ANKRD17	OMIM:619504
HP:0008678	Renal hypoplasia/aplasia	5573	PRKAR1A	OMIM:101800
HP:0008678	Renal hypoplasia/aplasia	6811	STX5	OMIM:620454
HP:0008678	Renal hypoplasia/aplasia	6862	TBXT	OMIM:615709
HP:0008678	Renal hypoplasia/aplasia	9653	HS2ST1	OMIM:619194
HP:0008678	Renal hypoplasia/aplasia	5518	PPP2R1A	OMIM:616362
HP:0008678	Renal hypoplasia/aplasia	5518	PPP2R1A	ORPHA:457284
HP:0008678	Renal hypoplasia/aplasia	348180	CTU2	OMIM:618142
HP:0008678	Renal hypoplasia/aplasia	54499	TMCO1	OMIM:213980
HP:0008678	Renal hypoplasia/aplasia	25914	RTTN	ORPHA:468631
HP:0008678	Renal hypoplasia/aplasia	5293	PIK3CD	ORPHA:221139
HP:0008678	Renal hypoplasia/aplasia	90417	KNSTRN	ORPHA:221139
HP:0008678	Renal hypoplasia/aplasia	79228	THOC6	ORPHA:363444
HP:0008678	Renal hypoplasia/aplasia	79228	THOC6	OMIM:613680
HP:0008678	Renal hypoplasia/aplasia	57466	SCAF4	OMIM:620511
HP:0008678	Renal hypoplasia/aplasia	55252	ASXL2	OMIM:617190
HP:0008678	Renal hypoplasia/aplasia	10149	ADGRG2	ORPHA:48
HP:0008678	Renal hypoplasia/aplasia	1080	CFTR	ORPHA:48
HP:0008678	Renal hypoplasia/aplasia	2625	GATA3	ORPHA:2237
HP:0008678	Renal hypoplasia/aplasia	10516	FBLN5	ORPHA:90348
HP:0008678	Renal hypoplasia/aplasia	55191	NADSYN1	OMIM:618845
HP:0008678	Renal hypoplasia/aplasia	55788	LMBRD1	ORPHA:79284
HP:0008678	Renal hypoplasia/aplasia	9276	COPB2	ORPHA:2512
HP:0008678	Renal hypoplasia/aplasia	22995	CEP152	ORPHA:2512
HP:0008678	Renal hypoplasia/aplasia	284403	WDR62	ORPHA:2512
HP:0008678	Renal hypoplasia/aplasia	55262	TRAPPC14	ORPHA:2512
HP:0008678	Renal hypoplasia/aplasia	163786	SASS6	ORPHA:2512
HP:0008678	Renal hypoplasia/aplasia	29920	PYCR2	ORPHA:2512
HP:0008678	Renal hypoplasia/aplasia	84879	MFSD2A	ORPHA:2512
HP:0008678	Renal hypoplasia/aplasia	4176	MCM7	ORPHA:2512
HP:0008678	Renal hypoplasia/aplasia	80254	CEP63	ORPHA:2512
HP:0008678	Renal hypoplasia/aplasia	29081	METTL5	ORPHA:2512
HP:0008678	Renal hypoplasia/aplasia	79023	NUP37	ORPHA:2512
HP:0008678	Renal hypoplasia/aplasia	23310	NCAPD3	ORPHA:2512
HP:0008678	Renal hypoplasia/aplasia	6301	SARS1	ORPHA:2512
HP:0008678	Renal hypoplasia/aplasia	55755	CDK5RAP2	ORPHA:2512
HP:0008678	Renal hypoplasia/aplasia	79648	MCPH1	ORPHA:2512
HP:0008678	Renal hypoplasia/aplasia	6491	STIL	ORPHA:2512
HP:0008678	Renal hypoplasia/aplasia	23141	ANKLE2	ORPHA:2512
HP:0008678	Renal hypoplasia/aplasia	259266	ASPM	ORPHA:2512
HP:0008678	Renal hypoplasia/aplasia	7109	TRAPPC10	ORPHA:2512
HP:0008678	Renal hypoplasia/aplasia	7453	WARS1	ORPHA:2512
HP:0008678	Renal hypoplasia/aplasia	1911	PHC1	ORPHA:2512
HP:0008678	Renal hypoplasia/aplasia	1062	CENPE	ORPHA:2512
HP:0008678	Renal hypoplasia/aplasia	6884	TAF13	ORPHA:2512
HP:0008678	Renal hypoplasia/aplasia	9662	CEP135	ORPHA:2512
HP:0008678	Renal hypoplasia/aplasia	57082	KNL1	ORPHA:2512
HP:0008678	Renal hypoplasia/aplasia	1021	CDK6	ORPHA:2512
HP:0008678	Renal hypoplasia/aplasia	7148	TNXB	OMIM:606408
HP:0008678	Renal hypoplasia/aplasia	5781	PTPN11	OMIM:151100
HP:0008678	Renal hypoplasia/aplasia	78987	CRELD1	OMIM:620771
HP:0008678	Renal hypoplasia/aplasia	27238	GPKOW	ORPHA:2570
HP:0008678	Renal hypoplasia/aplasia	341640	FREM2	ORPHA:2052
HP:0008678	Renal hypoplasia/aplasia	80144	FRAS1	ORPHA:2052
HP:0008678	Renal hypoplasia/aplasia	80144	FRAS1	OMIM:219000
HP:0008678	Renal hypoplasia/aplasia	23426	GRIP1	ORPHA:2052
HP:0008678	Renal hypoplasia/aplasia	3975	LHX1	ORPHA:261265
HP:0008678	Renal hypoplasia/aplasia	6928	HNF1B	ORPHA:261265
HP:0008678	Renal hypoplasia/aplasia	54880	BCOR	OMIM:309800
HP:0008678	Renal hypoplasia/aplasia	54880	BCOR	ORPHA:568
HP:0008678	Renal hypoplasia/aplasia	8260	NAA10	OMIM:309800
HP:0008678	Renal hypoplasia/aplasia	8260	NAA10	ORPHA:568
HP:0008678	Renal hypoplasia/aplasia	64840	PORCN	ORPHA:2092
HP:0008678	Renal hypoplasia/aplasia	145173	B3GLCT	ORPHA:709
HP:0008678	Renal hypoplasia/aplasia	2138	EYA1	ORPHA:107
HP:0008678	Renal hypoplasia/aplasia	2138	EYA1	ORPHA:2792
HP:0008678	Renal hypoplasia/aplasia	147912	SIX5	ORPHA:107
HP:0008678	Renal hypoplasia/aplasia	6495	SIX1	ORPHA:107
HP:0008678	Renal hypoplasia/aplasia	1718	DHCR24	ORPHA:35107
HP:0008678	Renal hypoplasia/aplasia	54101	RIPK4	ORPHA:1234
HP:0008678	Renal hypoplasia/aplasia	8085	KMT2D	ORPHA:2322
HP:0008678	Renal hypoplasia/aplasia	7403	KDM6A	ORPHA:2322
HP:0008678	Renal hypoplasia/aplasia	2314	FLII	ORPHA:819
HP:0008678	Renal hypoplasia/aplasia	23096	IQSEC2	ORPHA:819
HP:0008678	Renal hypoplasia/aplasia	10743	RAI1	ORPHA:819
HP:0008678	Renal hypoplasia/aplasia	10522	DEAF1	ORPHA:819
HP:0008678	Renal hypoplasia/aplasia	1717	DHCR7	ORPHA:818
HP:0008678	Renal hypoplasia/aplasia	4038	LRP4	ORPHA:3258
HP:0008678	Renal hypoplasia/aplasia	324	APC	ORPHA:3258
HP:0008678	Renal hypoplasia/aplasia	2187	FANCB	ORPHA:3412
HP:0008678	Renal hypoplasia/aplasia	2187	FANCB	ORPHA:84
HP:0008678	Renal hypoplasia/aplasia	5290	PIK3CA	ORPHA:140944
HP:0008678	Renal hypoplasia/aplasia	8195	MKKS	ORPHA:2473
HP:0008678	Renal hypoplasia/aplasia	5075	PAX1	ORPHA:2792
HP:0008678	Renal hypoplasia/aplasia	10225	CD96	ORPHA:1308
HP:0008678	Renal hypoplasia/aplasia	672	BRCA1	ORPHA:84
HP:0008678	Renal hypoplasia/aplasia	10459	MAD2L2	ORPHA:84
HP:0008678	Renal hypoplasia/aplasia	7516	XRCC2	ORPHA:84
HP:0008678	Renal hypoplasia/aplasia	29089	UBE2T	ORPHA:84
HP:0008678	Renal hypoplasia/aplasia	675	BRCA2	ORPHA:84
HP:0008678	Renal hypoplasia/aplasia	55120	FANCL	ORPHA:84
HP:0008678	Renal hypoplasia/aplasia	2177	FANCD2	ORPHA:84
HP:0008678	Renal hypoplasia/aplasia	2175	FANCA	ORPHA:84
HP:0008678	Renal hypoplasia/aplasia	2176	FANCC	ORPHA:84
HP:0008678	Renal hypoplasia/aplasia	2178	FANCE	ORPHA:84
HP:0008678	Renal hypoplasia/aplasia	2188	FANCF	ORPHA:84
HP:0008678	Renal hypoplasia/aplasia	2189	FANCG	ORPHA:84
HP:0008678	Renal hypoplasia/aplasia	5888	RAD51	ORPHA:84
HP:0008678	Renal hypoplasia/aplasia	5889	RAD51C	ORPHA:84
HP:0008678	Renal hypoplasia/aplasia	55159	RFWD3	ORPHA:84
HP:0008678	Renal hypoplasia/aplasia	83990	BRIP1	ORPHA:84
HP:0008678	Renal hypoplasia/aplasia	57697	FANCM	ORPHA:84
HP:0008678	Renal hypoplasia/aplasia	79728	PALB2	ORPHA:84
HP:0008678	Renal hypoplasia/aplasia	84464	SLX4	ORPHA:84
HP:0008678	Renal hypoplasia/aplasia	2072	ERCC4	ORPHA:84
HP:0008678	Renal hypoplasia/aplasia	55215	FANCI	ORPHA:84
HP:0008678	Renal hypoplasia/aplasia	26123	TCTN3	ORPHA:2753
HP:0008678	Renal hypoplasia/aplasia	26123	TCTN3	ORPHA:2754
HP:0008678	Renal hypoplasia/aplasia	10262	SF3B4	ORPHA:1788
HP:0008678	Renal hypoplasia/aplasia	79583	TMEM231	ORPHA:2754
HP:0008678	Renal hypoplasia/aplasia	10210	TOPORS	ORPHA:2754
HP:0008678	Renal hypoplasia/aplasia	9851	KIAA0753	ORPHA:2754
HP:0008678	Renal hypoplasia/aplasia	5147	PDE6D	ORPHA:2754
HP:0008678	Renal hypoplasia/aplasia	65250	CPLANE1	ORPHA:2754
HP:0008678	Renal hypoplasia/aplasia	51259	TMEM216	ORPHA:2754
HP:0008678	Renal hypoplasia/aplasia	8481	OFD1	ORPHA:2754
HP:0008678	Renal hypoplasia/aplasia	317662	FAM149B1	ORPHA:2754
HP:0008678	Renal hypoplasia/aplasia	374654	KIF7	ORPHA:2754
HP:0008678	Renal hypoplasia/aplasia	5566	PRKACA	ORPHA:289
HP:0008678	Renal hypoplasia/aplasia	5567	PRKACB	ORPHA:289
HP:0008678	Renal hypoplasia/aplasia	2735	GLI1	ORPHA:289
HP:0008678	Renal hypoplasia/aplasia	2121	EVC	ORPHA:289
HP:0008678	Renal hypoplasia/aplasia	51626	DYNC2LI1	ORPHA:289
HP:0008678	Renal hypoplasia/aplasia	132884	EVC2	ORPHA:289
HP:0008678	Renal hypoplasia/aplasia	4763	NF1	ORPHA:363700
HP:0008678	Renal hypoplasia/aplasia	8626	TP63	ORPHA:1896
HP:0008678	Renal hypoplasia/aplasia	9573	GDF3	ORPHA:2345
HP:0008678	Renal hypoplasia/aplasia	392255	GDF6	ORPHA:2345
HP:0008678	Renal hypoplasia/aplasia	4222	MEOX1	ORPHA:2345
HP:0008678	Renal hypoplasia/aplasia	57167	SALL4	ORPHA:959
HP:0008678	Renal hypoplasia/aplasia	170302	ARX	ORPHA:2508
HP:0008678	Renal hypoplasia/aplasia	63895	PIEZO2	ORPHA:2461
HP:0008678	Renal hypoplasia/aplasia	5361	PLXNA1	OMIM:619955
HP:0008678	Renal hypoplasia/aplasia	26005	C2CD3	OMIM:615948
HP:0008678	Renal hypoplasia/aplasia	8367	H4C5	OMIM:619950
HP:0008678	Renal hypoplasia/aplasia	4174	MCM5	OMIM:617564
HP:0008678	Renal hypoplasia/aplasia	3265	HRAS	ORPHA:2874
HP:0008678	Renal hypoplasia/aplasia	1063	CENPF	OMIM:243605
HP:0008678	Renal hypoplasia/aplasia	7468	NSD2	OMIM:619695
HP:0000104	Renal agenesis	11113	CIT	OMIM:617090
HP:0000104	Renal agenesis	22827	PUF60	ORPHA:508498
HP:0000104	Renal agenesis	22827	PUF60	OMIM:615583
HP:0000104	Renal agenesis	25970	SH2B1	ORPHA:261222
HP:0000104	Renal agenesis	65250	CPLANE1	OMIM:277170
HP:0000104	Renal agenesis	65250	CPLANE1	ORPHA:2754
HP:0000104	Renal agenesis	2187	FANCB	OMIM:300514
HP:0000104	Renal agenesis	2187	FANCB	ORPHA:3412
HP:0000104	Renal agenesis	10806	SDCCAG8	OMIM:615993
HP:0000104	Renal agenesis	54361	WNT4	ORPHA:247768
HP:0000104	Renal agenesis	54361	WNT4	ORPHA:2578
HP:0000104	Renal agenesis	54361	WNT4	OMIM:611812
HP:0000104	Renal agenesis	54361	WNT4	ORPHA:139466
HP:0000104	Renal agenesis	2263	FGFR2	OMIM:149730
HP:0000104	Renal agenesis	158326	FREM1	ORPHA:217266
HP:0000104	Renal agenesis	158326	FREM1	OMIM:608980
HP:0000104	Renal agenesis	5979	RET	ORPHA:1848
HP:0000104	Renal agenesis	8516	ITGA8	ORPHA:1848
HP:0000104	Renal agenesis	26281	FGF20	ORPHA:1848
HP:0000104	Renal agenesis	2674	GFRA1	ORPHA:1848
HP:0000104	Renal agenesis	7484	WNT9B	ORPHA:1848
HP:0000104	Renal agenesis	80000	GREB1L	ORPHA:1848
HP:0000104	Renal agenesis	80000	GREB1L	OMIM:617805
HP:0000104	Renal agenesis	10992	SF3B2	OMIM:164210
HP:0000104	Renal agenesis	546	ATRX	OMIM:301040
HP:0000104	Renal agenesis	57167	SALL4	OMIM:607323
HP:0000104	Renal agenesis	6928	HNF1B	ORPHA:93111
HP:0000104	Renal agenesis	6928	HNF1B	ORPHA:2578
HP:0000104	Renal agenesis	8626	TP63	OMIM:604292
HP:0000104	Renal agenesis	81839	VANGL1	ORPHA:3027
HP:0000104	Renal agenesis	80199	FUZ	ORPHA:3027
HP:0000104	Renal agenesis	64324	NSD1	ORPHA:821
HP:0000104	Renal agenesis	10297	APC2	ORPHA:821
HP:0000104	Renal agenesis	51360	MBTPS2	OMIM:308205
HP:0000104	Renal agenesis	57465	TBC1D24	OMIM:220500
HP:0000104	Renal agenesis	1718	DHCR24	ORPHA:35107
HP:0000104	Renal agenesis	7750	ZMYM2	OMIM:619522
HP:0000104	Renal agenesis	2175	FANCA	OMIM:227650
HP:0000104	Renal agenesis	92002	CCNQ	ORPHA:140952
HP:0000104	Renal agenesis	341640	FREM2	OMIM:617666
HP:0000104	Renal agenesis	4149	MAX	OMIM:620712
HP:0000104	Renal agenesis	10847	SRCAP	ORPHA:2044
HP:0000104	Renal agenesis	79971	WLS	OMIM:619648
HP:0000104	Renal agenesis	7547	ZIC3	OMIM:306955
HP:0000104	Renal agenesis	2260	FGFR1	ORPHA:280200
HP:0000104	Renal agenesis	2260	FGFR1	ORPHA:478
HP:0000104	Renal agenesis	28514	DLL1	ORPHA:280200
HP:0000104	Renal agenesis	2253	FGF8	ORPHA:280200
HP:0000104	Renal agenesis	2253	FGF8	ORPHA:478
HP:0000104	Renal agenesis	6496	SIX3	ORPHA:280200
HP:0000104	Renal agenesis	7050	TGIF1	ORPHA:280200
HP:0000104	Renal agenesis	4838	NODAL	ORPHA:280200
HP:0000104	Renal agenesis	6469	SHH	ORPHA:280200
HP:0000104	Renal agenesis	51684	SUFU	ORPHA:280200
HP:0000104	Renal agenesis	7546	ZIC2	ORPHA:280200
HP:0000104	Renal agenesis	2619	GAS1	ORPHA:280200
HP:0000104	Renal agenesis	84976	DISP1	ORPHA:280200
HP:0000104	Renal agenesis	2736	GLI2	ORPHA:280200
HP:0000104	Renal agenesis	8928	FOXH1	ORPHA:280200
HP:0000104	Renal agenesis	6997	CRIPTO	ORPHA:280200
HP:0000104	Renal agenesis	5727	PTCH1	ORPHA:280200
HP:0000104	Renal agenesis	50937	CDON	ORPHA:280200
HP:0000104	Renal agenesis	2177	FANCD2	OMIM:227646
HP:0000104	Renal agenesis	2176	FANCC	OMIM:227645
HP:0000104	Renal agenesis	5286	PIK3C2A	OMIM:618440
HP:0000104	Renal agenesis	7473	WNT3	OMIM:273395
HP:0000104	Renal agenesis	26123	TCTN3	ORPHA:2753
HP:0000104	Renal agenesis	26123	TCTN3	ORPHA:2754
HP:0000104	Renal agenesis	79583	TMEM231	ORPHA:2754
HP:0000104	Renal agenesis	10210	TOPORS	ORPHA:2754
HP:0000104	Renal agenesis	9851	KIAA0753	ORPHA:2754
HP:0000104	Renal agenesis	5147	PDE6D	ORPHA:2754
HP:0000104	Renal agenesis	51259	TMEM216	ORPHA:2754
HP:0000104	Renal agenesis	8481	OFD1	ORPHA:2754
HP:0000104	Renal agenesis	317662	FAM149B1	ORPHA:2754
HP:0000104	Renal agenesis	374654	KIF7	ORPHA:2754
HP:0000104	Renal agenesis	3239	HOXD13	ORPHA:887
HP:0000104	Renal agenesis	7020	TFAP2A	OMIM:113620
HP:0000104	Renal agenesis	7020	TFAP2A	ORPHA:1297
HP:0000104	Renal agenesis	1717	DHCR7	OMIM:270400
HP:0000104	Renal agenesis	6138	RPL15	ORPHA:124
HP:0000104	Renal agenesis	6224	RPS20	ORPHA:124
HP:0000104	Renal agenesis	6165	RPL35A	ORPHA:124
HP:0000104	Renal agenesis	6132	RPL8	ORPHA:124
HP:0000104	Renal agenesis	6223	RPS19	ORPHA:124
HP:0000104	Renal agenesis	6232	RPS27	ORPHA:124
HP:0000104	Renal agenesis	55027	HEATR3	ORPHA:124
HP:0000104	Renal agenesis	6160	RPL31	ORPHA:124
HP:0000104	Renal agenesis	6201	RPS7	ORPHA:124
HP:0000104	Renal agenesis	6155	RPL27	ORPHA:124
HP:0000104	Renal agenesis	6234	RPS28	ORPHA:124
HP:0000104	Renal agenesis	6135	RPL11	ORPHA:124
HP:0000104	Renal agenesis	6229	RPS24	ORPHA:124
HP:0000104	Renal agenesis	6125	RPL5	ORPHA:124
HP:0000104	Renal agenesis	6204	RPS10	ORPHA:124
HP:0000104	Renal agenesis	2623	GATA1	ORPHA:124
HP:0000104	Renal agenesis	6133	RPL9	ORPHA:124
HP:0000104	Renal agenesis	6231	RPS26	ORPHA:124
HP:0000104	Renal agenesis	11224	RPL35	ORPHA:124
HP:0000104	Renal agenesis	6218	RPS17	ORPHA:124
HP:0000104	Renal agenesis	6154	RPL26	ORPHA:124
HP:0000104	Renal agenesis	6210	RPS15A	ORPHA:124
HP:0000104	Renal agenesis	90121	TSR2	ORPHA:124
HP:0000104	Renal agenesis	6141	RPL18	ORPHA:124
HP:0000104	Renal agenesis	6235	RPS29	ORPHA:124
HP:0000104	Renal agenesis	51816	ADA2	ORPHA:124
HP:0000104	Renal agenesis	2178	FANCE	OMIM:600901
HP:0000104	Renal agenesis	54903	MKS1	OMIM:249000
HP:0000104	Renal agenesis	5087	PBX1	OMIM:617641
HP:0000104	Renal agenesis	51729	WBP11	OMIM:619227
HP:0000104	Renal agenesis	55636	CHD7	OMIM:214800
HP:0000104	Renal agenesis	55636	CHD7	ORPHA:478
HP:0000104	Renal agenesis	63895	PIEZO2	ORPHA:2461
HP:0000104	Renal agenesis	3640	INSL3	OMIM:219050
HP:0000104	Renal agenesis	10371	SEMA3A	ORPHA:478
HP:0000104	Renal agenesis	81848	SPRY4	ORPHA:478
HP:0000104	Renal agenesis	23767	FLRT3	ORPHA:478
HP:0000104	Renal agenesis	128674	PROKR2	ORPHA:478
HP:0000104	Renal agenesis	79625	NDNF	ORPHA:478
HP:0000104	Renal agenesis	389549	FEZF1	ORPHA:478
HP:0000104	Renal agenesis	1630	DCC	ORPHA:478
HP:0000104	Renal agenesis	3730	ANOS1	ORPHA:478
HP:0000104	Renal agenesis	54756	IL17RD	ORPHA:478
HP:0000104	Renal agenesis	6663	SOX10	ORPHA:478
HP:0000104	Renal agenesis	285025	CCDC141	ORPHA:478
HP:0000104	Renal agenesis	60675	PROK2	ORPHA:478
HP:0000104	Renal agenesis	1848	DUSP6	ORPHA:478
HP:0000104	Renal agenesis	6870	TACR3	ORPHA:478
HP:0000104	Renal agenesis	55717	WDR11	ORPHA:478
HP:0000104	Renal agenesis	9394	HS6ST1	ORPHA:478
HP:0000104	Renal agenesis	8820	HESX1	ORPHA:478
HP:0000104	Renal agenesis	8822	FGF17	ORPHA:478
HP:0000104	Renal agenesis	4038	LRP4	OMIM:212780
HP:0000104	Renal agenesis	26227	PHGDH	OMIM:256520
HP:0000104	Renal agenesis	2737	GLI3	ORPHA:672
HP:0000104	Renal agenesis	10262	SF3B4	OMIM:154400
HP:0000104	Renal agenesis	10262	SF3B4	ORPHA:245
HP:0000104	Renal agenesis	8294	H4C9	OMIM:619951
HP:0000104	Renal agenesis	2138	EYA1	OMIM:113650
HP:0000104	Renal agenesis	6495	SIX1	OMIM:113650
HP:0000104	Renal agenesis	1859	DYRK1A	ORPHA:268261
HP:0000104	Renal agenesis	1859	DYRK1A	ORPHA:464311
HP:0000104	Renal agenesis	55503	TRPV6	OMIM:618188
HP:0000104	Renal agenesis	1161	ERCC8	ORPHA:90324
HP:0000104	Renal agenesis	2074	ERCC6	ORPHA:90324
HP:0000104	Renal agenesis	6091	ROBO1	OMIM:620305
HP:0000104	Renal agenesis	5832	ALDH18A1	OMIM:616603
HP:0000104	Renal agenesis	5832	ALDH18A1	ORPHA:90348
HP:0000104	Renal agenesis	91801	ALKBH8	OMIM:618504
HP:0000104	Renal agenesis	8496	PPFIBP1	OMIM:620024
HP:0000104	Renal agenesis	5447	POR	ORPHA:95699
HP:0000104	Renal agenesis	91147	TMEM67	OMIM:216360
HP:0000104	Renal agenesis	6651	SON	OMIM:617140
HP:0000104	Renal agenesis	6651	SON	ORPHA:500150
HP:0000104	Renal agenesis	8942	KYNU	OMIM:617661
HP:0000104	Renal agenesis	998	CDC42	OMIM:616737
HP:0000104	Renal agenesis	998	CDC42	ORPHA:487796
HP:0000104	Renal agenesis	3417	IDH1	ORPHA:99646
HP:0000104	Renal agenesis	50814	NSDHL	OMIM:308050
HP:0000104	Renal agenesis	412	STS	ORPHA:281090
HP:0000104	Renal agenesis	25778	DSTYK	OMIM:610805
HP:0000104	Renal agenesis	6899	TBX1	OMIM:188400
HP:0000104	Renal agenesis	1822	ATN1	OMIM:618494
HP:0000104	Renal agenesis	57511	COG6	OMIM:614576
HP:0000104	Renal agenesis	55012	PPP2R3C	OMIM:618419
HP:0000104	Renal agenesis	2783	GNB2	OMIM:619503
HP:0000104	Renal agenesis	26057	ANKRD17	OMIM:619504
HP:0000104	Renal agenesis	5573	PRKAR1A	OMIM:101800
HP:0000104	Renal agenesis	6811	STX5	OMIM:620454
HP:0000104	Renal agenesis	6862	TBXT	OMIM:615709
HP:0000104	Renal agenesis	9653	HS2ST1	OMIM:619194
HP:0000104	Renal agenesis	5518	PPP2R1A	OMIM:616362
HP:0000104	Renal agenesis	5518	PPP2R1A	ORPHA:457284
HP:0000104	Renal agenesis	392255	GDF6	OMIM:118100
HP:0000104	Renal agenesis	348180	CTU2	OMIM:618142
HP:0000104	Renal agenesis	54499	TMCO1	OMIM:213980
HP:0000104	Renal agenesis	25914	RTTN	ORPHA:468631
HP:0000104	Renal agenesis	5293	PIK3CD	ORPHA:221139
HP:0000104	Renal agenesis	90417	KNSTRN	ORPHA:221139
HP:0000104	Renal agenesis	10907	TXNL4A	OMIM:608572
HP:0000104	Renal agenesis	284252	KCTD1	OMIM:181270
HP:0000104	Renal agenesis	79228	THOC6	ORPHA:363444
HP:0000104	Renal agenesis	79228	THOC6	OMIM:613680
HP:0000104	Renal agenesis	57466	SCAF4	OMIM:620511
HP:0000104	Renal agenesis	79728	PALB2	OMIM:610832
HP:0000104	Renal agenesis	55252	ASXL2	OMIM:617190
HP:0000104	Renal agenesis	10149	ADGRG2	ORPHA:48
HP:0000104	Renal agenesis	1080	CFTR	ORPHA:48
HP:0000104	Renal agenesis	55120	FANCL	OMIM:614083
HP:0000104	Renal agenesis	7518	XRCC4	OMIM:616541
HP:0000104	Renal agenesis	2625	GATA3	ORPHA:2237
HP:0000104	Renal agenesis	2006	ELN	ORPHA:90348
HP:0000104	Renal agenesis	10516	FBLN5	ORPHA:90348
HP:0000104	Renal agenesis	55191	NADSYN1	OMIM:618845
HP:0000104	Renal agenesis	55788	LMBRD1	ORPHA:79284
HP:0000104	Renal agenesis	9276	COPB2	ORPHA:2512
HP:0000104	Renal agenesis	9928	KIF14	ORPHA:2512
HP:0000104	Renal agenesis	22995	CEP152	ORPHA:2512
HP:0000104	Renal agenesis	284403	WDR62	ORPHA:2512
HP:0000104	Renal agenesis	55262	TRAPPC14	ORPHA:2512
HP:0000104	Renal agenesis	163786	SASS6	ORPHA:2512
HP:0000104	Renal agenesis	29920	PYCR2	ORPHA:2512
HP:0000104	Renal agenesis	84879	MFSD2A	ORPHA:2512
HP:0000104	Renal agenesis	4176	MCM7	ORPHA:2512
HP:0000104	Renal agenesis	80254	CEP63	ORPHA:2512
HP:0000104	Renal agenesis	29081	METTL5	ORPHA:2512
HP:0000104	Renal agenesis	79023	NUP37	ORPHA:2512
HP:0000104	Renal agenesis	23310	NCAPD3	ORPHA:2512
HP:0000104	Renal agenesis	6301	SARS1	ORPHA:2512
HP:0000104	Renal agenesis	55755	CDK5RAP2	ORPHA:2512
HP:0000104	Renal agenesis	79648	MCPH1	ORPHA:2512
HP:0000104	Renal agenesis	6491	STIL	ORPHA:2512
HP:0000104	Renal agenesis	23141	ANKLE2	ORPHA:2512
HP:0000104	Renal agenesis	259266	ASPM	ORPHA:2512
HP:0000104	Renal agenesis	7109	TRAPPC10	ORPHA:2512
HP:0000104	Renal agenesis	7453	WARS1	ORPHA:2512
HP:0000104	Renal agenesis	1911	PHC1	ORPHA:2512
HP:0000104	Renal agenesis	1062	CENPE	ORPHA:2512
HP:0000104	Renal agenesis	6884	TAF13	ORPHA:2512
HP:0000104	Renal agenesis	9662	CEP135	ORPHA:2512
HP:0000104	Renal agenesis	57082	KNL1	ORPHA:2512
HP:0000104	Renal agenesis	1021	CDK6	ORPHA:2512
HP:0000104	Renal agenesis	7148	TNXB	OMIM:606408
HP:0000104	Renal agenesis	5781	PTPN11	OMIM:151100
HP:0000104	Renal agenesis	5908	RAP1B	OMIM:620654
HP:0000104	Renal agenesis	78987	CRELD1	OMIM:620771
HP:0000104	Renal agenesis	8085	KMT2D	OMIM:147920
HP:0000104	Renal agenesis	7403	KDM6A	OMIM:147920
HP:0000104	Renal agenesis	23426	GRIP1	OMIM:617667
HP:0004746	Glomerular subendothelial electron-dense deposits	3075	CFH	OMIM:609814
HP:0004746	Glomerular subendothelial electron-dense deposits	81494	CFHR5	OMIM:614809
HP:0000097	Focal segmental glomerulosclerosis	7225	TRPC6	OMIM:603965
HP:0000097	Focal segmental glomerulosclerosis	7225	TRPC6	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	4558	MT-TF	ORPHA:550
HP:0000097	Focal segmental glomerulosclerosis	4572	MT-TQ	ORPHA:550
HP:0000097	Focal segmental glomerulosclerosis	4512	MT-CO1	ORPHA:550
HP:0000097	Focal segmental glomerulosclerosis	4513	MT-CO2	ORPHA:550
HP:0000097	Focal segmental glomerulosclerosis	4514	MT-CO3	ORPHA:550
HP:0000097	Focal segmental glomerulosclerosis	4578	MT-TW	ORPHA:550
HP:0000097	Focal segmental glomerulosclerosis	4540	MT-ND5	ORPHA:550
HP:0000097	Focal segmental glomerulosclerosis	4541	MT-ND6	ORPHA:550
HP:0000097	Focal segmental glomerulosclerosis	4535	MT-ND1	ORPHA:550
HP:0000097	Focal segmental glomerulosclerosis	4538	MT-ND4	ORPHA:550
HP:0000097	Focal segmental glomerulosclerosis	4567	MT-TL1	ORPHA:550
HP:0000097	Focal segmental glomerulosclerosis	4574	MT-TS1	ORPHA:550
HP:0000097	Focal segmental glomerulosclerosis	4575	MT-TS2	ORPHA:550
HP:0000097	Focal segmental glomerulosclerosis	4564	MT-TH	ORPHA:550
HP:0000097	Focal segmental glomerulosclerosis	5972	REN	OMIM:613092
HP:0000097	Focal segmental glomerulosclerosis	112858	TP53RK	OMIM:617730
HP:0000097	Focal segmental glomerulosclerosis	8879	SGPL1	OMIM:617575
HP:0000097	Focal segmental glomerulosclerosis	8270	LAGE3	OMIM:301006
HP:0000097	Focal segmental glomerulosclerosis	5076	PAX2	OMIM:616002
HP:0000097	Focal segmental glomerulosclerosis	5076	PAX2	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	29927	SEC61A1	OMIM:617056
HP:0000097	Focal segmental glomerulosclerosis	284086	NEK8	OMIM:620903
HP:0000097	Focal segmental glomerulosclerosis	51002	TPRKB	OMIM:617731
HP:0000097	Focal segmental glomerulosclerosis	10785	WDR4	OMIM:618347
HP:0000097	Focal segmental glomerulosclerosis	55505	NOP10	OMIM:620425
HP:0000097	Focal segmental glomerulosclerosis	57122	NUP107	OMIM:618348
HP:0000097	Focal segmental glomerulosclerosis	57122	NUP107	OMIM:616730
HP:0000097	Focal segmental glomerulosclerosis	57122	NUP107	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	55746	NUP133	OMIM:618349
HP:0000097	Focal segmental glomerulosclerosis	55746	NUP133	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	55746	NUP133	OMIM:618177
HP:0000097	Focal segmental glomerulosclerosis	84942	WDR73	OMIM:251300
HP:0000097	Focal segmental glomerulosclerosis	3675	ITGA3	OMIM:614748
HP:0000097	Focal segmental glomerulosclerosis	1184	CLCN5	OMIM:308990
HP:0000097	Focal segmental glomerulosclerosis	7490	WT1	ORPHA:347
HP:0000097	Focal segmental glomerulosclerosis	7490	WT1	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	7490	WT1	OMIM:256370
HP:0000097	Focal segmental glomerulosclerosis	7490	WT1	OMIM:194080
HP:0000097	Focal segmental glomerulosclerosis	7490	WT1	OMIM:136680
HP:0000097	Focal segmental glomerulosclerosis	2542	SLC37A4	OMIM:232220
HP:0000097	Focal segmental glomerulosclerosis	2542	SLC37A4	OMIM:232240
HP:0000097	Focal segmental glomerulosclerosis	81	ACTN4	OMIM:603278
HP:0000097	Focal segmental glomerulosclerosis	81	ACTN4	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	23607	CD2AP	OMIM:607832
HP:0000097	Focal segmental glomerulosclerosis	23607	CD2AP	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	55243	KIRREL1	OMIM:619201
HP:0000097	Focal segmental glomerulosclerosis	10651	MTX2	OMIM:619127
HP:0000097	Focal segmental glomerulosclerosis	23165	NUP205	OMIM:616893
HP:0000097	Focal segmental glomerulosclerosis	23165	NUP205	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	3913	LAMB2	OMIM:614199
HP:0000097	Focal segmental glomerulosclerosis	9688	NUP93	OMIM:616892
HP:0000097	Focal segmental glomerulosclerosis	9688	NUP93	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	5800	PTPRO	OMIM:614196
HP:0000097	Focal segmental glomerulosclerosis	5800	PTPRO	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	50485	SMARCAL1	ORPHA:1830
HP:0000097	Focal segmental glomerulosclerosis	50485	SMARCAL1	OMIM:242900
HP:0000097	Focal segmental glomerulosclerosis	65082	VPS33A	OMIM:617303
HP:0000097	Focal segmental glomerulosclerosis	182	JAG1	OMIM:118450
HP:0000097	Focal segmental glomerulosclerosis	84520	GON7	OMIM:619603
HP:0000097	Focal segmental glomerulosclerosis	4010	LMX1B	OMIM:256020
HP:0000097	Focal segmental glomerulosclerosis	4868	NPHS1	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	4643	MYO1E	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	4643	MYO1E	OMIM:614131
HP:0000097	Focal segmental glomerulosclerosis	64423	INF2	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	64423	INF2	OMIM:613237
HP:0000097	Focal segmental glomerulosclerosis	64423	INF2	OMIM:614455
HP:0000097	Focal segmental glomerulosclerosis	26130	GAPVD1	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	51479	ANKFY1	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	54443	ANLN	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	54443	ANLN	OMIM:616032
HP:0000097	Focal segmental glomerulosclerosis	286204	CRB2	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	286204	CRB2	OMIM:616220
HP:0000097	Focal segmental glomerulosclerosis	2013	EMP2	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	79023	NUP37	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	51196	PLCE1	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	51196	PLCE1	OMIM:610725
HP:0000097	Focal segmental glomerulosclerosis	79902	NUP85	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	79902	NUP85	OMIM:618176
HP:0000097	Focal segmental glomerulosclerosis	1285	COL4A3	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	396	ARHGDIA	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	79934	COQ8B	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	79934	COQ8B	OMIM:615573
HP:0000097	Focal segmental glomerulosclerosis	23279	NUP160	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	23279	NUP160	OMIM:618178
HP:0000097	Focal segmental glomerulosclerosis	9863	MAGI2	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	8542	APOL1	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	8542	APOL1	OMIM:612551
HP:0000097	Focal segmental glomerulosclerosis	54885	TBC1D8B	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	54885	TBC1D8B	OMIM:301028
HP:0000097	Focal segmental glomerulosclerosis	7827	NPHS2	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	7827	NPHS2	OMIM:600995
HP:0000097	Focal segmental glomerulosclerosis	83478	ARHGAP24	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	23500	DAAM2	ORPHA:656
HP:0000097	Focal segmental glomerulosclerosis	23500	DAAM2	OMIM:619263
HP:0000097	Focal segmental glomerulosclerosis	27235	COQ2	OMIM:607426
HP:0000097	Focal segmental glomerulosclerosis	1736	DKC1	OMIM:301108
HP:0000097	Focal segmental glomerulosclerosis	2538	G6PC1	OMIM:232200
HP:0000097	Focal segmental glomerulosclerosis	3911	LAMA5	OMIM:620049
HP:0000097	Focal segmental glomerulosclerosis	51004	COQ6	OMIM:614650
HP:0000097	Focal segmental glomerulosclerosis	79731	NARS2	OMIM:616239
HP:0000097	Focal segmental glomerulosclerosis	950	SCARB2	OMIM:254900
HP:0000097	Focal segmental glomerulosclerosis	1188	CLCNKB	ORPHA:358
HP:0000097	Focal segmental glomerulosclerosis	6559	SLC12A3	ORPHA:358
HP:0000090	Nephronophthisis	9851	KIAA0753	ORPHA:474
HP:0000090	Nephronophthisis	55112	DYNC2I1	ORPHA:474
HP:0000090	Nephronophthisis	26160	IFT172	ORPHA:474
HP:0000090	Nephronophthisis	26160	IFT172	OMIM:615630
HP:0000090	Nephronophthisis	153241	CEP120	ORPHA:474
HP:0000090	Nephronophthisis	57560	IFT80	ORPHA:474
HP:0000090	Nephronophthisis	51626	DYNC2LI1	ORPHA:474
HP:0000090	Nephronophthisis	79659	DYNC2H1	ORPHA:474
HP:0000090	Nephronophthisis	9742	IFT140	ORPHA:474
HP:0000090	Nephronophthisis	9742	IFT140	OMIM:266920
HP:0000090	Nephronophthisis	57728	WDR19	ORPHA:474
HP:0000090	Nephronophthisis	57728	WDR19	OMIM:616307
HP:0000090	Nephronophthisis	57728	WDR19	OMIM:614377
HP:0000090	Nephronophthisis	57728	WDR19	ORPHA:3156
HP:0000090	Nephronophthisis	89891	DYNC2I2	ORPHA:474
HP:0000090	Nephronophthisis	79809	TTC21B	ORPHA:474
HP:0000090	Nephronophthisis	79809	TTC21B	OMIM:613820
HP:0000090	Nephronophthisis	261734	NPHP4	OMIM:606996
HP:0000090	Nephronophthisis	261734	NPHP4	OMIM:606966
HP:0000090	Nephronophthisis	261734	NPHP4	ORPHA:3156
HP:0000090	Nephronophthisis	23005	MAPKBP1	OMIM:617271
HP:0000090	Nephronophthisis	23322	RPGRIP1L	OMIM:619113
HP:0000090	Nephronophthisis	23322	RPGRIP1L	OMIM:611560
HP:0000090	Nephronophthisis	91147	TMEM67	OMIM:613550
HP:0000090	Nephronophthisis	91147	TMEM67	OMIM:610688
HP:0000090	Nephronophthisis	91147	TMEM67	OMIM:602152
HP:0000090	Nephronophthisis	91147	TMEM67	OMIM:216360
HP:0000090	Nephronophthisis	91147	TMEM67	ORPHA:140976
HP:0000090	Nephronophthisis	284086	NEK8	OMIM:620903
HP:0000090	Nephronophthisis	284086	NEK8	OMIM:613824
HP:0000090	Nephronophthisis	95681	CEP41	OMIM:614464
HP:0000090	Nephronophthisis	51524	TMEM138	OMIM:614465
HP:0000090	Nephronophthisis	80184	CEP290	OMIM:610188
HP:0000090	Nephronophthisis	80184	CEP290	ORPHA:3156
HP:0000090	Nephronophthisis	23090	ZNF423	OMIM:614844
HP:0000090	Nephronophthisis	63929	XPNPEP3	OMIM:613159
HP:0000090	Nephronophthisis	22897	CEP164	OMIM:614845
HP:0000090	Nephronophthisis	22897	CEP164	ORPHA:3156
HP:0000090	Nephronophthisis	84662	GLIS2	OMIM:611498
HP:0000090	Nephronophthisis	51259	TMEM216	OMIM:608091
HP:0000090	Nephronophthisis	10806	SDCCAG8	OMIM:613615
HP:0000090	Nephronophthisis	10806	SDCCAG8	ORPHA:3156
HP:0000090	Nephronophthisis	26146	TRAF3IP1	OMIM:616629
HP:0000090	Nephronophthisis	26146	TRAF3IP1	ORPHA:3156
HP:0000090	Nephronophthisis	4867	NPHP1	OMIM:609583
HP:0000090	Nephronophthisis	4867	NPHP1	OMIM:266900
HP:0000090	Nephronophthisis	4867	NPHP1	ORPHA:3156
HP:0000090	Nephronophthisis	4867	NPHP1	OMIM:256100
HP:0000090	Nephronophthisis	54806	AHI1	OMIM:608629
HP:0000090	Nephronophthisis	203286	ANKS6	OMIM:615382
HP:0000090	Nephronophthisis	9321	TRIP11	OMIM:184260
HP:0000090	Nephronophthisis	112752	IFT43	OMIM:614099
HP:0000090	Nephronophthisis	51134	CEP83	OMIM:615862
HP:0000090	Nephronophthisis	51473	DCDC2	OMIM:616217
HP:0000090	Nephronophthisis	9657	IQCB1	ORPHA:3156
HP:0000090	Nephronophthisis	9657	IQCB1	OMIM:609254
HP:0000090	Nephronophthisis	27130	INVS	ORPHA:3156
HP:0000090	Nephronophthisis	27130	INVS	OMIM:602088
HP:0000090	Nephronophthisis	27031	NPHP3	ORPHA:3156
HP:0000090	Nephronophthisis	27031	NPHP3	OMIM:604387
HP:0000090	Nephronophthisis	22909	FAN1	OMIM:614817
HP:0004749	Atrial flutter	7092	TLL1	ORPHA:99103
HP:0004749	Atrial flutter	7092	TLL1	ORPHA:99106
HP:0004749	Atrial flutter	57057	TBX20	ORPHA:99103
HP:0004749	Atrial flutter	4624	MYH6	ORPHA:99103
HP:0004749	Atrial flutter	1482	NKX2-5	ORPHA:99103
HP:0004749	Atrial flutter	70	ACTC1	ORPHA:99103
HP:0004749	Atrial flutter	70	ACTC1	OMIM:612098
HP:0004749	Atrial flutter	10370	CITED2	ORPHA:99103
HP:0004749	Atrial flutter	10370	CITED2	ORPHA:99105
HP:0004749	Atrial flutter	2626	GATA4	ORPHA:99103
HP:0004749	Atrial flutter	2627	GATA6	ORPHA:99103
HP:0004749	Atrial flutter	6331	SCN5A	OMIM:601144
HP:0004749	Atrial flutter	6331	SCN5A	OMIM:614022
HP:0004749	Atrial flutter	6331	SCN5A	OMIM:601154
HP:0004749	Atrial flutter	151648	SGO1	OMIM:616201
HP:0004749	Atrial flutter	4000	LMNA	ORPHA:300751
HP:0004749	Atrial flutter	4000	LMNA	OMIM:115200
HP:0004749	Atrial flutter	9631	NUP155	OMIM:615770
HP:0004749	Atrial flutter	4519	MT-CYB	ORPHA:137675
HP:0004749	Atrial flutter	51422	PRKAG2	OMIM:194200
HP:0004749	Atrial flutter	1193	CLIC2	ORPHA:324410
HP:0004749	Atrial flutter	55800	SCN3B	OMIM:613120
HP:0004749	Atrial flutter	51086	TNNI3K	OMIM:616117
HP:0004749	Atrial flutter	3777	KCNK3	OMIM:615344
HP:0004749	Atrial flutter	826	CAPNS1	OMIM:620777
HP:0004749	Atrial flutter	10699	CORIN	OMIM:620734
HP:0004749	Atrial flutter	1760	DMPK	OMIM:160900
HP:0025579	Abnormal left atrium morphology	5915	RARB	OMIM:615524
HP:0025579	Abnormal left atrium morphology	64220	STRA6	OMIM:601186
HP:0025579	Abnormal left atrium morphology	5337	PLD1	OMIM:212093
HP:0025579	Abnormal left atrium morphology	7137	TNNI3	OMIM:115210
HP:0025579	Abnormal left atrium morphology	7137	TNNI3	ORPHA:75249
HP:0025579	Abnormal left atrium morphology	80206	FHOD3	OMIM:619402
HP:0025579	Abnormal left atrium morphology	4633	MYL2	OMIM:619424
HP:0025579	Abnormal left atrium morphology	442721	LMOD2	OMIM:619897
HP:0025579	Abnormal left atrium morphology	151648	SGO1	OMIM:616201
HP:0025579	Abnormal left atrium morphology	6331	SCN5A	OMIM:614022
HP:0025579	Abnormal left atrium morphology	2318	FLNC	OMIM:617047
HP:0025579	Abnormal left atrium morphology	2318	FLNC	ORPHA:75249
HP:0025579	Abnormal left atrium morphology	54914	FOCAD	OMIM:619991
HP:0025579	Abnormal left atrium morphology	9631	NUP155	OMIM:615770
HP:0025579	Abnormal left atrium morphology	8260	NAA10	OMIM:300855
HP:0025579	Abnormal left atrium morphology	6324	SCN1B	OMIM:615377
HP:0025579	Abnormal left atrium morphology	4878	NPPA	OMIM:612201
HP:0025579	Abnormal left atrium morphology	8815	BANF1	OMIM:614008
HP:0025579	Abnormal left atrium morphology	10699	CORIN	OMIM:620734
HP:0025579	Abnormal left atrium morphology	2997	GYS1	OMIM:611556
HP:0025579	Abnormal left atrium morphology	84665	MYPN	ORPHA:75249
HP:0025579	Abnormal left atrium morphology	7139	TNNT2	ORPHA:75249
HP:0025579	Abnormal left atrium morphology	10112	KIF20A	ORPHA:75249
HP:0025579	Abnormal left atrium morphology	4634	MYL3	OMIM:608751
HP:0025579	Abnormal left atrium morphology	2273	FHL1	OMIM:300280
HP:0025579	Abnormal left atrium morphology	7092	TLL1	ORPHA:99106
HP:0025579	Abnormal left atrium morphology	4625	MYH7	OMIM:160500
HP:0030875	Abnormality of pulmonary circulation	4702	NDUFA8	OMIM:619272
HP:0030875	Abnormality of pulmonary circulation	4352	MPL	ORPHA:71493
HP:0030875	Abnormality of pulmonary circulation	7066	THPO	ORPHA:71493
HP:0030875	Abnormality of pulmonary circulation	2294	FOXF1	OMIM:265380
HP:0030875	Abnormality of pulmonary circulation	2294	FOXF1	ORPHA:210122
HP:0030875	Abnormality of pulmonary circulation	4558	MT-TF	ORPHA:550
HP:0030875	Abnormality of pulmonary circulation	4572	MT-TQ	ORPHA:550
HP:0030875	Abnormality of pulmonary circulation	4512	MT-CO1	ORPHA:550
HP:0030875	Abnormality of pulmonary circulation	4513	MT-CO2	ORPHA:550
HP:0030875	Abnormality of pulmonary circulation	4514	MT-CO3	ORPHA:550
HP:0030875	Abnormality of pulmonary circulation	4578	MT-TW	ORPHA:550
HP:0030875	Abnormality of pulmonary circulation	4540	MT-ND5	ORPHA:550
HP:0030875	Abnormality of pulmonary circulation	4541	MT-ND6	ORPHA:550
HP:0030875	Abnormality of pulmonary circulation	4535	MT-ND1	ORPHA:550
HP:0030875	Abnormality of pulmonary circulation	4538	MT-ND4	ORPHA:550
HP:0030875	Abnormality of pulmonary circulation	4567	MT-TL1	ORPHA:550
HP:0030875	Abnormality of pulmonary circulation	4574	MT-TS1	ORPHA:550
HP:0030875	Abnormality of pulmonary circulation	4575	MT-TS2	ORPHA:550
HP:0030875	Abnormality of pulmonary circulation	4564	MT-TH	ORPHA:550
HP:0030875	Abnormality of pulmonary circulation	7428	VHL	OMIM:263400
HP:0030875	Abnormality of pulmonary circulation	79717	PPCS	OMIM:618189
HP:0030875	Abnormality of pulmonary circulation	26235	FBXL4	OMIM:615471
HP:0030875	Abnormality of pulmonary circulation	776	CACNA1D	OMIM:615474
HP:0030875	Abnormality of pulmonary circulation	776	CACNA1D	ORPHA:369929
HP:0030875	Abnormality of pulmonary circulation	498	ATP5F1A	OMIM:616045
HP:0030875	Abnormality of pulmonary circulation	775	CACNA1C	OMIM:620029
HP:0030875	Abnormality of pulmonary circulation	775	CACNA1C	OMIM:601005
HP:0030875	Abnormality of pulmonary circulation	81857	MED25	OMIM:616449
HP:0030875	Abnormality of pulmonary circulation	81857	MED25	ORPHA:464738
HP:0030875	Abnormality of pulmonary circulation	3875	KRT18	OMIM:215600
HP:0030875	Abnormality of pulmonary circulation	8854	ALDH1A2	OMIM:620025
HP:0030875	Abnormality of pulmonary circulation	90459	ERI1	OMIM:620663
HP:0030875	Abnormality of pulmonary circulation	1277	COL1A1	OMIM:259420
HP:0030875	Abnormality of pulmonary circulation	1278	COL1A2	OMIM:259420
HP:0030875	Abnormality of pulmonary circulation	1235	CCR6	ORPHA:220402
HP:0030875	Abnormality of pulmonary circulation	1235	CCR6	ORPHA:220393
HP:0030875	Abnormality of pulmonary circulation	79932	KIAA0319L	ORPHA:220402
HP:0030875	Abnormality of pulmonary circulation	1490	CCN2	ORPHA:220402
HP:0030875	Abnormality of pulmonary circulation	1490	CCN2	ORPHA:220393
HP:0030875	Abnormality of pulmonary circulation	3663	IRF5	ORPHA:220402
HP:0030875	Abnormality of pulmonary circulation	3663	IRF5	ORPHA:220393
HP:0030875	Abnormality of pulmonary circulation	411	ARSB	OMIM:253200
HP:0030875	Abnormality of pulmonary circulation	10312	TCIRG1	ORPHA:667
HP:0030875	Abnormality of pulmonary circulation	1186	CLCN7	ORPHA:667
HP:0030875	Abnormality of pulmonary circulation	29887	SNX10	ORPHA:667
HP:0030875	Abnormality of pulmonary circulation	8600	TNFSF11	ORPHA:667
HP:0030875	Abnormality of pulmonary circulation	27125	AFF4	ORPHA:444077
HP:0030875	Abnormality of pulmonary circulation	4784	NFIX	ORPHA:447980
HP:0030875	Abnormality of pulmonary circulation	4784	NFIX	OMIM:602535
HP:0030875	Abnormality of pulmonary circulation	55315	SLC29A3	OMIM:602782
HP:0030875	Abnormality of pulmonary circulation	1349	COX7B	OMIM:300887
HP:0030875	Abnormality of pulmonary circulation	23395	LARS2	OMIM:617021
HP:0030875	Abnormality of pulmonary circulation	727897	MUC5B	OMIM:178500
HP:0030875	Abnormality of pulmonary circulation	6440	SFTPC	OMIM:178500
HP:0030875	Abnormality of pulmonary circulation	6440	SFTPC	OMIM:610913
HP:0030875	Abnormality of pulmonary circulation	729238	SFTPA2	OMIM:178500
HP:0030875	Abnormality of pulmonary circulation	7015	TERT	OMIM:178500
HP:0030875	Abnormality of pulmonary circulation	51601	LIPT1	OMIM:616299
HP:0030875	Abnormality of pulmonary circulation	30008	EFEMP2	OMIM:614437
HP:0030875	Abnormality of pulmonary circulation	5698	PSMB9	OMIM:620796
HP:0030875	Abnormality of pulmonary circulation	3908	LAMA2	ORPHA:258
HP:0030875	Abnormality of pulmonary circulation	9382	COG1	ORPHA:263508
HP:0030875	Abnormality of pulmonary circulation	6439	SFTPB	OMIM:265120
HP:0030875	Abnormality of pulmonary circulation	6439	SFTPB	ORPHA:217563
HP:0030875	Abnormality of pulmonary circulation	1340	COX6B1	OMIM:619051
HP:0030875	Abnormality of pulmonary circulation	65082	VPS33A	ORPHA:505248
HP:0030875	Abnormality of pulmonary circulation	1351	COX8A	OMIM:619059
HP:0030875	Abnormality of pulmonary circulation	50619	DEF6	OMIM:619573
HP:0030875	Abnormality of pulmonary circulation	79572	ATP13A3	OMIM:265400
HP:0030875	Abnormality of pulmonary circulation	8260	NAA10	OMIM:300855
HP:0030875	Abnormality of pulmonary circulation	9469	CHST3	OMIM:143095
HP:0030875	Abnormality of pulmonary circulation	9968	MED12	ORPHA:93932
HP:0030875	Abnormality of pulmonary circulation	92579	G6PC3	OMIM:612541
HP:0030875	Abnormality of pulmonary circulation	56244	BTNL2	OMIM:612387
HP:0030875	Abnormality of pulmonary circulation	2260	FGFR1	ORPHA:2396
HP:0030875	Abnormality of pulmonary circulation	3845	KRAS	ORPHA:2396
HP:0030875	Abnormality of pulmonary circulation	7080	NKX2-1	ORPHA:209905
HP:0030875	Abnormality of pulmonary circulation	55750	AGK	OMIM:212350
HP:0030875	Abnormality of pulmonary circulation	9377	COX5A	OMIM:619064
HP:0030875	Abnormality of pulmonary circulation	9496	TBX4	ORPHA:261279
HP:0030875	Abnormality of pulmonary circulation	9896	FIG4	ORPHA:3472
HP:0030875	Abnormality of pulmonary circulation	9896	FIG4	OMIM:216340
HP:0030875	Abnormality of pulmonary circulation	55697	VAC14	ORPHA:3472
HP:0030875	Abnormality of pulmonary circulation	3977	LIFR	OMIM:601559
HP:0030875	Abnormality of pulmonary circulation	5826	ABCD4	OMIM:614857
HP:0030875	Abnormality of pulmonary circulation	3425	IDUA	OMIM:607015
HP:0030875	Abnormality of pulmonary circulation	4763	NF1	ORPHA:97685
HP:0030875	Abnormality of pulmonary circulation	760	CA2	ORPHA:2785
HP:0030875	Abnormality of pulmonary circulation	3043	HBB	ORPHA:232
HP:0030875	Abnormality of pulmonary circulation	3043	HBB	ORPHA:231222
HP:0030875	Abnormality of pulmonary circulation	7840	ALMS1	ORPHA:64
HP:0030875	Abnormality of pulmonary circulation	6772	STAT1	ORPHA:391487
HP:0030875	Abnormality of pulmonary circulation	3572	IL6ST	OMIM:619751
HP:0030875	Abnormality of pulmonary circulation	2261	FGFR3	OMIM:616482
HP:0030875	Abnormality of pulmonary circulation	10664	CTCF	ORPHA:363611
HP:0030875	Abnormality of pulmonary circulation	10526	IPO8	OMIM:619472
HP:0030875	Abnormality of pulmonary circulation	5167	ENPP1	ORPHA:51608
HP:0030875	Abnormality of pulmonary circulation	368	ABCC6	ORPHA:51608
HP:0030875	Abnormality of pulmonary circulation	2200	FBN1	OMIM:614185
HP:0030875	Abnormality of pulmonary circulation	4607	MYBPC3	OMIM:615396
HP:0030875	Abnormality of pulmonary circulation	7414	VCL	OMIM:613255
HP:0030875	Abnormality of pulmonary circulation	29957	SLC25A24	OMIM:612289
HP:0030875	Abnormality of pulmonary circulation	57514	ARHGAP31	OMIM:100300
HP:0030875	Abnormality of pulmonary circulation	57514	ARHGAP31	ORPHA:974
HP:0030875	Abnormality of pulmonary circulation	9719	ADAMTSL2	OMIM:231050
HP:0030875	Abnormality of pulmonary circulation	8085	KMT2D	OMIM:620186
HP:0030875	Abnormality of pulmonary circulation	8085	KMT2D	OMIM:147920
HP:0030875	Abnormality of pulmonary circulation	8517	IKBKG	ORPHA:464
HP:0030875	Abnormality of pulmonary circulation	4000	LMNA	ORPHA:740
HP:0030875	Abnormality of pulmonary circulation	10269	ZMPSTE24	ORPHA:740
HP:0030875	Abnormality of pulmonary circulation	23556	PIGN	ORPHA:280633
HP:0030875	Abnormality of pulmonary circulation	4716	NDUFB10	OMIM:619003
HP:0030875	Abnormality of pulmonary circulation	2629	GBA1	OMIM:230800
HP:0030875	Abnormality of pulmonary circulation	2629	GBA1	ORPHA:2072
HP:0030875	Abnormality of pulmonary circulation	2629	GBA1	ORPHA:77261
HP:0030875	Abnormality of pulmonary circulation	2629	GBA1	ORPHA:77259
HP:0030875	Abnormality of pulmonary circulation	374879	ZNF699	OMIM:619488
HP:0030875	Abnormality of pulmonary circulation	27086	FOXP1	ORPHA:391372
HP:0030875	Abnormality of pulmonary circulation	4256	MGP	ORPHA:85202
HP:0030875	Abnormality of pulmonary circulation	50485	SMARCAL1	ORPHA:1830
HP:0030875	Abnormality of pulmonary circulation	50485	SMARCAL1	OMIM:242900
HP:0030875	Abnormality of pulmonary circulation	8292	COLQ	ORPHA:98915
HP:0030875	Abnormality of pulmonary circulation	3913	LAMB2	ORPHA:98915
HP:0030875	Abnormality of pulmonary circulation	4625	MYH7	OMIM:613426
HP:0030875	Abnormality of pulmonary circulation	388015	RTL1	ORPHA:96334
HP:0030875	Abnormality of pulmonary circulation	8788	DLK1	ORPHA:96334
HP:0030875	Abnormality of pulmonary circulation	55384	MEG3	ORPHA:96334
HP:0030875	Abnormality of pulmonary circulation	10551	AGR2	OMIM:620233
HP:0030875	Abnormality of pulmonary circulation	3516	RBPJ	ORPHA:974
HP:0030875	Abnormality of pulmonary circulation	4851	NOTCH1	ORPHA:974
HP:0030875	Abnormality of pulmonary circulation	4851	NOTCH1	OMIM:616028
HP:0030875	Abnormality of pulmonary circulation	57572	DOCK6	ORPHA:974
HP:0030875	Abnormality of pulmonary circulation	285203	EOGT	ORPHA:974
HP:0030875	Abnormality of pulmonary circulation	54567	DLL4	ORPHA:974
HP:0030875	Abnormality of pulmonary circulation	6123	RPL3L	OMIM:619371
HP:0030875	Abnormality of pulmonary circulation	79989	IFT56	OMIM:619534
HP:0030875	Abnormality of pulmonary circulation	8815	BANF1	OMIM:614008
HP:0030875	Abnormality of pulmonary circulation	5236	PGM1	OMIM:614921
HP:0030875	Abnormality of pulmonary circulation	5557	PRIM1	OMIM:620005
HP:0030875	Abnormality of pulmonary circulation	21	ABCA3	ORPHA:217563
HP:0030875	Abnormality of pulmonary circulation	59	ACTA2	OMIM:613834
HP:0030875	Abnormality of pulmonary circulation	3593	IL12B	ORPHA:3287
HP:0030875	Abnormality of pulmonary circulation	6945	MLX	ORPHA:3287
HP:0030875	Abnormality of pulmonary circulation	79645	CLXN	OMIM:620642
HP:0030875	Abnormality of pulmonary circulation	64127	NOD2	ORPHA:90340
HP:0030875	Abnormality of pulmonary circulation	55901	THSD1	OMIM:620244
HP:0030875	Abnormality of pulmonary circulation	3339	HSPG2	ORPHA:800
HP:0030875	Abnormality of pulmonary circulation	6910	TBX5	OMIM:142900
HP:0030875	Abnormality of pulmonary circulation	27247	NFU1	OMIM:605711
HP:0030875	Abnormality of pulmonary circulation	8295	TRRAP	OMIM:618454
HP:0030875	Abnormality of pulmonary circulation	93233	ODAD1	OMIM:615067
HP:0030875	Abnormality of pulmonary circulation	51025	PAM16	OMIM:613320
HP:0030875	Abnormality of pulmonary circulation	2316	FLNA	OMIM:309350
HP:0030875	Abnormality of pulmonary circulation	23590	PDSS1	OMIM:614651
HP:0030875	Abnormality of pulmonary circulation	826	CAPNS1	OMIM:620777
HP:0030875	Abnormality of pulmonary circulation	7319	UBE2A	ORPHA:163956
HP:0030875	Abnormality of pulmonary circulation	54938	SARS2	OMIM:613845
HP:0030875	Abnormality of pulmonary circulation	389827	MYMK	OMIM:254940
HP:0030875	Abnormality of pulmonary circulation	5052	PRDX1	OMIM:277400
HP:0030875	Abnormality of pulmonary circulation	950	SCARB2	ORPHA:77259
HP:0030875	Abnormality of pulmonary circulation	7403	KDM6A	OMIM:147920
HP:0030875	Abnormality of pulmonary circulation	2658	GDF2	ORPHA:774
HP:0030875	Abnormality of pulmonary circulation	94	ACVRL1	ORPHA:774
HP:0030875	Abnormality of pulmonary circulation	4089	SMAD4	ORPHA:774
HP:0030875	Abnormality of pulmonary circulation	2022	ENG	ORPHA:774
HP:0030875	Abnormality of pulmonary circulation	875	CBS	ORPHA:394
HP:0030875	Abnormality of pulmonary circulation	6005	RHAG	OMIM:185000
HP:0030875	Abnormality of pulmonary circulation	2162	F13A1	OMIM:188050
HP:0030875	Abnormality of pulmonary circulation	2147	F2	OMIM:188050
HP:0030875	Abnormality of pulmonary circulation	3026	HABP2	OMIM:188050
HP:0030875	Abnormality of pulmonary circulation	4524	MTHFR	OMIM:188050
HP:0030875	Abnormality of pulmonary circulation	7056	THBD	OMIM:614486
HP:0030875	Abnormality of pulmonary circulation	3717	JAK2	ORPHA:729
HP:0030875	Abnormality of pulmonary circulation	25974	MMACHC	ORPHA:79282
HP:0030875	Abnormality of pulmonary circulation	462	SERPINC1	OMIM:613118
HP:0030875	Abnormality of pulmonary circulation	462	SERPINC1	ORPHA:82
HP:0030875	Abnormality of pulmonary circulation	5624	PROC	OMIM:612304
HP:0030875	Abnormality of pulmonary circulation	5624	PROC	ORPHA:745
HP:0030875	Abnormality of pulmonary circulation	5624	PROC	OMIM:176860
HP:0030875	Abnormality of pulmonary circulation	55109	AGGF1	ORPHA:90308
HP:0030875	Abnormality of pulmonary circulation	5290	PIK3CA	ORPHA:90308
HP:0030875	Abnormality of pulmonary circulation	5627	PROS1	ORPHA:743
HP:0030875	Abnormality of pulmonary circulation	5627	PROS1	OMIM:614514
HP:0030875	Abnormality of pulmonary circulation	5627	PROS1	OMIM:612336
HP:0030875	Abnormality of pulmonary circulation	2776	GNAQ	ORPHA:624
HP:0030875	Abnormality of pulmonary circulation	2776	GNAQ	ORPHA:3205
HP:0030875	Abnormality of pulmonary circulation	207	AKT1	ORPHA:744
HP:0030875	Abnormality of pulmonary circulation	5277	PIGA	ORPHA:447
HP:0030875	Abnormality of pulmonary circulation	5354	PLP1	ORPHA:99015
HP:0030875	Abnormality of pulmonary circulation	1604	CD55	OMIM:226300
HP:0030875	Abnormality of pulmonary circulation	3762	KCNJ5	OMIM:613485
HP:0030875	Abnormality of pulmonary circulation	2157	F8	OMIM:301071
HP:0030875	Abnormality of pulmonary circulation	149233	IL23R	ORPHA:117
HP:0030875	Abnormality of pulmonary circulation	6775	STAT4	ORPHA:117
HP:0030875	Abnormality of pulmonary circulation	3586	IL10	ORPHA:117
HP:0030875	Abnormality of pulmonary circulation	4210	MEFV	ORPHA:117
HP:0030875	Abnormality of pulmonary circulation	1230	CCR1	ORPHA:117
HP:0030875	Abnormality of pulmonary circulation	355	FAS	ORPHA:117
HP:0030875	Abnormality of pulmonary circulation	3592	IL12A	ORPHA:117
HP:0030875	Abnormality of pulmonary circulation	101928376	IL12A-AS1	ORPHA:117
HP:0030875	Abnormality of pulmonary circulation	3106	HLA-B	ORPHA:117
HP:0030875	Abnormality of pulmonary circulation	7099	TLR4	ORPHA:117
HP:0030875	Abnormality of pulmonary circulation	3459	IFNGR1	ORPHA:117
HP:0030875	Abnormality of pulmonary circulation	720	C4A	ORPHA:117
HP:0030875	Abnormality of pulmonary circulation	337867	UBAC2	ORPHA:117
HP:0030875	Abnormality of pulmonary circulation	51752	ERAP1	ORPHA:117
HP:0030875	Abnormality of pulmonary circulation	8302	KLRC4	ORPHA:117
HP:0030875	Abnormality of pulmonary circulation	3777	KCNK3	OMIM:615344
HP:0030875	Abnormality of pulmonary circulation	6662	SOX9	ORPHA:718
HP:0030875	Abnormality of pulmonary circulation	440275	EIF2AK4	ORPHA:199241
HP:0030875	Abnormality of pulmonary circulation	144811	LACC1	ORPHA:85414
HP:0030875	Abnormality of pulmonary circulation	4282	MIF	ORPHA:85414
HP:0030875	Abnormality of pulmonary circulation	3123	HLA-DRB1	ORPHA:85414
HP:0030875	Abnormality of pulmonary circulation	3569	IL6	ORPHA:85414
HP:0030875	Abnormality of pulmonary circulation	4629	MYH11	OMIM:619351
HP:0030875	Abnormality of pulmonary circulation	857	CAV1	OMIM:615343
HP:0030875	Abnormality of pulmonary circulation	7092	TLL1	ORPHA:99103
HP:0030875	Abnormality of pulmonary circulation	57057	TBX20	ORPHA:99103
HP:0030875	Abnormality of pulmonary circulation	4624	MYH6	ORPHA:99103
HP:0030875	Abnormality of pulmonary circulation	1482	NKX2-5	ORPHA:99103
HP:0030875	Abnormality of pulmonary circulation	70	ACTC1	ORPHA:99103
HP:0030875	Abnormality of pulmonary circulation	10370	CITED2	ORPHA:99103
HP:0030875	Abnormality of pulmonary circulation	2626	GATA4	ORPHA:99103
HP:0030875	Abnormality of pulmonary circulation	2627	GATA6	ORPHA:99103
HP:0030875	Abnormality of pulmonary circulation	10568	SLC34A2	ORPHA:60025
HP:0030875	Abnormality of pulmonary circulation	659	BMPR2	OMIM:178600
HP:0030875	Abnormality of pulmonary circulation	4093	SMAD9	OMIM:615342
HP:0030875	Abnormality of pulmonary circulation	84665	MYPN	ORPHA:75249
HP:0030875	Abnormality of pulmonary circulation	2318	FLNC	ORPHA:75249
HP:0030875	Abnormality of pulmonary circulation	7139	TNNT2	ORPHA:75249
HP:0030875	Abnormality of pulmonary circulation	7137	TNNI3	ORPHA:75249
HP:0030875	Abnormality of pulmonary circulation	10112	KIF20A	ORPHA:75249
HP:0030875	Abnormality of pulmonary circulation	6521	SLC4A1	ORPHA:3202
HP:0030875	Abnormality of pulmonary circulation	9780	PIEZO1	ORPHA:3202
HP:0030875	Abnormality of pulmonary circulation	3783	KCNN4	ORPHA:3202
HP:0030875	Abnormality of pulmonary circulation	2542	SLC37A4	ORPHA:79259
HP:0030874	Oxygen desaturation on exertion	10568	SLC34A2	ORPHA:60025
HP:0030874	Oxygen desaturation on exertion	7080	NKX2-1	OMIM:610978
HP:0030873	Anti-centromere antibody positivity	3930	LBR	OMIM:613471
HP:0030871	Facet joint arthrosis	165	AEBP1	OMIM:618000
HP:0030870	Abnormality of spinal facet joint	6347	CCL2	OMIM:182940
HP:0030870	Abnormality of spinal facet joint	81839	VANGL1	OMIM:182940
HP:0030870	Abnormality of spinal facet joint	80199	FUZ	OMIM:182940
HP:0030870	Abnormality of spinal facet joint	6862	TBXT	OMIM:182940
HP:0030870	Abnormality of spinal facet joint	57216	VANGL2	OMIM:182940
HP:0030870	Abnormality of spinal facet joint	165	AEBP1	OMIM:618000
HP:0030879	Interlobular septal thickening	6439	SFTPB	OMIM:265120
HP:0030879	Interlobular septal thickening	659	BMPR2	OMIM:265450
HP:0030879	Interlobular septal thickening	440275	EIF2AK4	ORPHA:199241
HP:0030879	Interlobular septal thickening	1439	CSF2RB	OMIM:614370
HP:0030879	Interlobular septal thickening	10568	SLC34A2	ORPHA:60025
HP:0030879	Interlobular septal thickening	653509	SFTPA1	OMIM:619611
HP:0030878	Abnormality on pulmonary function testing	4921	DDR2	OMIM:271665
HP:0030878	Abnormality on pulmonary function testing	4625	MYH7	ORPHA:324604
HP:0030878	Abnormality on pulmonary function testing	4625	MYH7	OMIM:255160
HP:0030878	Abnormality on pulmonary function testing	7273	TTN	ORPHA:324604
HP:0030878	Abnormality on pulmonary function testing	7273	TTN	ORPHA:178464
HP:0030878	Abnormality on pulmonary function testing	79912	PYROXD1	OMIM:617258
HP:0030878	Abnormality on pulmonary function testing	1756	DMD	OMIM:310200
HP:0030878	Abnormality on pulmonary function testing	1736	DKC1	OMIM:305000
HP:0030878	Abnormality on pulmonary function testing	1776	DNASE1L3	ORPHA:36412
HP:0030878	Abnormality on pulmonary function testing	22947	DUX4L1	ORPHA:269
HP:0030878	Abnormality on pulmonary function testing	1789	DNMT3B	ORPHA:269
HP:0030878	Abnormality on pulmonary function testing	2483	FRG1	ORPHA:269
HP:0030878	Abnormality on pulmonary function testing	2483	FRG1	OMIM:158900
HP:0030878	Abnormality on pulmonary function testing	23347	SMCHD1	ORPHA:269
HP:0030878	Abnormality on pulmonary function testing	100288687	DUX4	ORPHA:269
HP:0030878	Abnormality on pulmonary function testing	411	ARSB	OMIM:253200
HP:0030878	Abnormality on pulmonary function testing	4568	MT-TL2	ORPHA:663
HP:0030878	Abnormality on pulmonary function testing	4567	MT-TL1	ORPHA:663
HP:0030878	Abnormality on pulmonary function testing	4570	MT-TN	ORPHA:663
HP:0030878	Abnormality on pulmonary function testing	4574	MT-TS1	ORPHA:663
HP:0030878	Abnormality on pulmonary function testing	100151683	RNU4ATAC	OMIM:226960
HP:0030878	Abnormality on pulmonary function testing	84466	MEGF10	OMIM:614399
HP:0030878	Abnormality on pulmonary function testing	7248	TSC1	ORPHA:538
HP:0030878	Abnormality on pulmonary function testing	7249	TSC2	ORPHA:538
HP:0030878	Abnormality on pulmonary function testing	10073	SNUPN	OMIM:620793
HP:0030878	Abnormality on pulmonary function testing	79147	FKRP	OMIM:607155
HP:0030878	Abnormality on pulmonary function testing	79147	FKRP	OMIM:606612
HP:0030878	Abnormality on pulmonary function testing	79158	GNPTAB	ORPHA:576
HP:0030878	Abnormality on pulmonary function testing	114548	NLRP3	ORPHA:575
HP:0030878	Abnormality on pulmonary function testing	2022	ENG	OMIM:187300
HP:0030878	Abnormality on pulmonary function testing	3106	HLA-B	ORPHA:36426
HP:0030878	Abnormality on pulmonary function testing	10320	IKZF1	ORPHA:36426
HP:0030878	Abnormality on pulmonary function testing	54	ACP5	OMIM:607944
HP:0030878	Abnormality on pulmonary function testing	1439	CSF2RB	ORPHA:264675
HP:0030878	Abnormality on pulmonary function testing	1438	CSF2RA	ORPHA:264675
HP:0030878	Abnormality on pulmonary function testing	1438	CSF2RA	OMIM:300770
HP:0030878	Abnormality on pulmonary function testing	653509	SFTPA1	OMIM:619611
HP:0030878	Abnormality on pulmonary function testing	23345	SYNE1	OMIM:618484
HP:0030878	Abnormality on pulmonary function testing	8260	NAA10	OMIM:300855
HP:0030878	Abnormality on pulmonary function testing	3423	IDS	ORPHA:217085
HP:0030878	Abnormality on pulmonary function testing	3423	IDS	ORPHA:217093
HP:0030878	Abnormality on pulmonary function testing	56244	BTNL2	OMIM:612387
HP:0030878	Abnormality on pulmonary function testing	6445	SGCG	OMIM:253700
HP:0030878	Abnormality on pulmonary function testing	29967	LRP12	OMIM:164310
HP:0030878	Abnormality on pulmonary function testing	29967	LRP12	ORPHA:98897
HP:0030878	Abnormality on pulmonary function testing	5351	PLOD1	ORPHA:1900
HP:0030878	Abnormality on pulmonary function testing	2261	FGFR3	ORPHA:15
HP:0030878	Abnormality on pulmonary function testing	80324	PUS1	OMIM:600462
HP:0030878	Abnormality on pulmonary function testing	2720	GLB1	OMIM:253010
HP:0030878	Abnormality on pulmonary function testing	23495	TNFRSF13B	ORPHA:1572
HP:0030878	Abnormality on pulmonary function testing	4790	NFKB1	ORPHA:1572
HP:0030878	Abnormality on pulmonary function testing	4791	NFKB2	ORPHA:1572
HP:0030878	Abnormality on pulmonary function testing	115650	TNFRSF13C	ORPHA:1572
HP:0030878	Abnormality on pulmonary function testing	1380	CR2	ORPHA:1572
HP:0030878	Abnormality on pulmonary function testing	8742	TNFSF12	ORPHA:1572
HP:0030878	Abnormality on pulmonary function testing	930	CD19	ORPHA:1572
HP:0030878	Abnormality on pulmonary function testing	29851	ICOS	ORPHA:1572
HP:0030878	Abnormality on pulmonary function testing	931	MS4A1	ORPHA:1572
HP:0030878	Abnormality on pulmonary function testing	975	CD81	ORPHA:1572
HP:0030878	Abnormality on pulmonary function testing	359948	IRF2BP2	ORPHA:1572
HP:0030878	Abnormality on pulmonary function testing	1280	COL2A1	OMIM:183900
HP:0030878	Abnormality on pulmonary function testing	9531	BAG3	OMIM:612954
HP:0030878	Abnormality on pulmonary function testing	374393	FAM111B	OMIM:615704
HP:0030878	Abnormality on pulmonary function testing	3055	HCK	OMIM:620296
HP:0030878	Abnormality on pulmonary function testing	353116	RILPL1	ORPHA:98897
HP:0030878	Abnormality on pulmonary function testing	10755	GIPC1	ORPHA:98897
HP:0030878	Abnormality on pulmonary function testing	100996717	NOTCH2NLC	ORPHA:98897
HP:0030878	Abnormality on pulmonary function testing	10568	SLC34A2	OMIM:265100
HP:0030878	Abnormality on pulmonary function testing	10568	SLC34A2	ORPHA:60025
HP:0030878	Abnormality on pulmonary function testing	7840	ALMS1	ORPHA:64
HP:0030878	Abnormality on pulmonary function testing	2588	GALNS	OMIM:253000
HP:0030878	Abnormality on pulmonary function testing	1861	TOR1A	OMIM:618947
HP:0030878	Abnormality on pulmonary function testing	3257	HPS1	OMIM:203300
HP:0030878	Abnormality on pulmonary function testing	3123	HLA-DRB1	ORPHA:747
HP:0030878	Abnormality on pulmonary function testing	3123	HLA-DRB1	OMIM:181000
HP:0030878	Abnormality on pulmonary function testing	1493	CTLA4	ORPHA:900
HP:0030878	Abnormality on pulmonary function testing	26191	PTPN22	ORPHA:900
HP:0030878	Abnormality on pulmonary function testing	5657	PRTN3	ORPHA:900
HP:0030878	Abnormality on pulmonary function testing	3113	HLA-DPA1	ORPHA:900
HP:0030878	Abnormality on pulmonary function testing	63895	PIEZO2	OMIM:108145
HP:0030878	Abnormality on pulmonary function testing	283446	MYO1H	OMIM:619482
HP:0030878	Abnormality on pulmonary function testing	89781	HPS4	OMIM:614073
HP:0030878	Abnormality on pulmonary function testing	1314	COPA	OMIM:616414
HP:0030878	Abnormality on pulmonary function testing	8701	DNAH11	OMIM:611884
HP:0030878	Abnormality on pulmonary function testing	6117	RPA1	OMIM:619767
HP:0030878	Abnormality on pulmonary function testing	388015	RTL1	ORPHA:96334
HP:0030878	Abnormality on pulmonary function testing	8788	DLK1	ORPHA:96334
HP:0030878	Abnormality on pulmonary function testing	55384	MEG3	ORPHA:96334
HP:0030878	Abnormality on pulmonary function testing	6329	SCN4A	ORPHA:98913
HP:0030878	Abnormality on pulmonary function testing	1134	CHRNA1	ORPHA:98913
HP:0030878	Abnormality on pulmonary function testing	4038	LRP4	ORPHA:98913
HP:0030878	Abnormality on pulmonary function testing	1305	COL13A1	ORPHA:98913
HP:0030878	Abnormality on pulmonary function testing	1140	CHRNB1	ORPHA:98913
HP:0030878	Abnormality on pulmonary function testing	1144	CHRND	ORPHA:98913
HP:0030878	Abnormality on pulmonary function testing	1145	CHRNE	ORPHA:98913
HP:0030878	Abnormality on pulmonary function testing	4593	MUSK	ORPHA:98913
HP:0030878	Abnormality on pulmonary function testing	5913	RAPSN	ORPHA:98913
HP:0030878	Abnormality on pulmonary function testing	375790	AGRN	ORPHA:98913
HP:0030878	Abnormality on pulmonary function testing	221264	AK9	ORPHA:98913
HP:0030878	Abnormality on pulmonary function testing	285489	DOK7	ORPHA:98913
HP:0030878	Abnormality on pulmonary function testing	145873	MESP2	OMIM:608681
HP:0030878	Abnormality on pulmonary function testing	23299	BICD2	OMIM:615290
HP:0030878	Abnormality on pulmonary function testing	126792	B3GALT6	ORPHA:536467
HP:0030878	Abnormality on pulmonary function testing	139818	DOCK11	OMIM:301109
HP:0030878	Abnormality on pulmonary function testing	2193	FARSA	OMIM:619013
HP:0030878	Abnormality on pulmonary function testing	56983	POGLUT1	OMIM:617232
HP:0030878	Abnormality on pulmonary function testing	122622	ADSS1	ORPHA:482601
HP:0030878	Abnormality on pulmonary function testing	2317	FLNB	OMIM:272460
HP:0030878	Abnormality on pulmonary function testing	60684	TRAPPC11	ORPHA:369840
HP:0030878	Abnormality on pulmonary function testing	60684	TRAPPC11	ORPHA:369847
HP:0030878	Abnormality on pulmonary function testing	57728	WDR19	OMIM:614376
HP:0030878	Abnormality on pulmonary function testing	84667	HES7	OMIM:613686
HP:0030878	Abnormality on pulmonary function testing	54332	GDAP1	ORPHA:99948
HP:0030878	Abnormality on pulmonary function testing	165918	RNF168	ORPHA:420741
HP:0030878	Abnormality on pulmonary function testing	7080	NKX2-1	OMIM:610978
HP:0030878	Abnormality on pulmonary function testing	246329	STAC3	OMIM:255995
HP:0030878	Abnormality on pulmonary function testing	9990	SLC12A6	OMIM:218000
HP:0030878	Abnormality on pulmonary function testing	9499	MYOT	ORPHA:266
HP:0030878	Abnormality on pulmonary function testing	88	ACTN2	OMIM:618654
HP:0030878	Abnormality on pulmonary function testing	51776	MAP3K20	OMIM:617760
HP:0030878	Abnormality on pulmonary function testing	7169	TPM2	OMIM:609285
HP:0030878	Abnormality on pulmonary function testing	7169	TPM2	ORPHA:171439
HP:0030878	Abnormality on pulmonary function testing	84665	MYPN	OMIM:617336
HP:0030878	Abnormality on pulmonary function testing	84665	MYPN	ORPHA:171439
HP:0030878	Abnormality on pulmonary function testing	390594	KBTBD13	ORPHA:171439
HP:0030878	Abnormality on pulmonary function testing	4703	NEB	ORPHA:171439
HP:0030878	Abnormality on pulmonary function testing	10324	KLHL41	ORPHA:171439
HP:0030878	Abnormality on pulmonary function testing	7170	TPM3	ORPHA:171439
HP:0030878	Abnormality on pulmonary function testing	81846	SBF2	ORPHA:99956
HP:0030878	Abnormality on pulmonary function testing	729920	CRPPA	ORPHA:352479
HP:0030878	Abnormality on pulmonary function testing	6340	SCNN1G	ORPHA:60033
HP:0030878	Abnormality on pulmonary function testing	1080	CFTR	ORPHA:60033
HP:0030878	Abnormality on pulmonary function testing	6337	SCNN1A	ORPHA:60033
HP:0030878	Abnormality on pulmonary function testing	6338	SCNN1B	ORPHA:60033
HP:0030878	Abnormality on pulmonary function testing	3115	HLA-DPB1	ORPHA:133
HP:0030878	Abnormality on pulmonary function testing	57190	SELENON	ORPHA:97244
HP:0030878	Abnormality on pulmonary function testing	58	ACTA1	ORPHA:97244
HP:0030878	Abnormality on pulmonary function testing	8314	BAP1	ORPHA:2495
HP:0030878	Abnormality on pulmonary function testing	4771	NF2	ORPHA:2495
HP:0030878	Abnormality on pulmonary function testing	6598	SMARCB1	ORPHA:2495
HP:0030878	Abnormality on pulmonary function testing	5155	PDGFB	ORPHA:2495
HP:0030878	Abnormality on pulmonary function testing	84231	TRAF7	ORPHA:2495
HP:0030878	Abnormality on pulmonary function testing	6608	SMO	ORPHA:2495
HP:0030878	Abnormality on pulmonary function testing	207	AKT1	ORPHA:2495
HP:0030878	Abnormality on pulmonary function testing	5290	PIK3CA	ORPHA:2495
HP:0030878	Abnormality on pulmonary function testing	7015	TERT	ORPHA:2495
HP:0030878	Abnormality on pulmonary function testing	51684	SUFU	ORPHA:2495
HP:0030878	Abnormality on pulmonary function testing	6605	SMARCE1	ORPHA:2495
HP:0030878	Abnormality on pulmonary function testing	25978	CHMP2B	ORPHA:803
HP:0030878	Abnormality on pulmonary function testing	3178	HNRNPA1	ORPHA:803
HP:0030878	Abnormality on pulmonary function testing	8148	TAF15	ORPHA:803
HP:0030878	Abnormality on pulmonary function testing	5445	PON2	ORPHA:803
HP:0030878	Abnormality on pulmonary function testing	9217	VAPB	ORPHA:803
HP:0030878	Abnormality on pulmonary function testing	8878	SQSTM1	ORPHA:803
HP:0030878	Abnormality on pulmonary function testing	5630	PRPH	ORPHA:803
HP:0030878	Abnormality on pulmonary function testing	29110	TBK1	ORPHA:803
HP:0030878	Abnormality on pulmonary function testing	55830	GLT8D1	ORPHA:803
HP:0030878	Abnormality on pulmonary function testing	755	CFAP410	ORPHA:803
HP:0030878	Abnormality on pulmonary function testing	10891	PPARGC1A	ORPHA:803
HP:0030878	Abnormality on pulmonary function testing	6647	SOD1	ORPHA:803
HP:0030878	Abnormality on pulmonary function testing	10133	OPTN	ORPHA:803
HP:0030878	Abnormality on pulmonary function testing	1639	DCTN1	ORPHA:803
HP:0030878	Abnormality on pulmonary function testing	9896	FIG4	ORPHA:803
HP:0030878	Abnormality on pulmonary function testing	5444	PON1	ORPHA:803
HP:0030878	Abnormality on pulmonary function testing	5446	PON3	ORPHA:803
HP:0030878	Abnormality on pulmonary function testing	4744	NEFH	ORPHA:803
HP:0030878	Abnormality on pulmonary function testing	5216	PFN1	ORPHA:803
HP:0030878	Abnormality on pulmonary function testing	9782	MATR3	ORPHA:803
HP:0030878	Abnormality on pulmonary function testing	54209	TREM2	ORPHA:803
HP:0030878	Abnormality on pulmonary function testing	7415	VCP	ORPHA:803
HP:0030878	Abnormality on pulmonary function testing	283	ANG	ORPHA:803
HP:0030878	Abnormality on pulmonary function testing	23435	TARDBP	ORPHA:803
HP:0030878	Abnormality on pulmonary function testing	29978	UBQLN2	ORPHA:803
HP:0030878	Abnormality on pulmonary function testing	2733	GLE1	ORPHA:803
HP:0030878	Abnormality on pulmonary function testing	2521	FUS	ORPHA:803
HP:0030878	Abnormality on pulmonary function testing	4750	NEK1	ORPHA:803
HP:0030878	Abnormality on pulmonary function testing	6311	ATXN2	ORPHA:803
HP:0030878	Abnormality on pulmonary function testing	1610	DAO	ORPHA:803
HP:0030878	Abnormality on pulmonary function testing	2066	ERBB4	ORPHA:803
HP:0030878	Abnormality on pulmonary function testing	311	ANXA11	ORPHA:803
HP:0030878	Abnormality on pulmonary function testing	23025	UNC13A	ORPHA:803
HP:0030878	Abnormality on pulmonary function testing	899	CCNF	ORPHA:803
HP:0030878	Abnormality on pulmonary function testing	400916	CHCHD10	ORPHA:803
HP:0030878	Abnormality on pulmonary function testing	7125	TNNC2	OMIM:620161
HP:0030878	Abnormality on pulmonary function testing	2212	FCGR2A	OMIM:219700
HP:0030878	Abnormality on pulmonary function testing	7040	TGFB1	OMIM:219700
HP:0030878	Abnormality on pulmonary function testing	152110	NEK10	OMIM:618781
HP:0030878	Abnormality on pulmonary function testing	146862	UNC45B	OMIM:619178
HP:0030878	Abnormality on pulmonary function testing	9453	GGPS1	OMIM:619518
HP:0030878	Abnormality on pulmonary function testing	27148	STK36	OMIM:619436
HP:0030878	Abnormality on pulmonary function testing	6440	SFTPC	ORPHA:2032
HP:0030878	Abnormality on pulmonary function testing	6440	SFTPC	OMIM:610913
HP:0030878	Abnormality on pulmonary function testing	729238	SFTPA2	ORPHA:2032
HP:0030878	Abnormality on pulmonary function testing	79991	STN1	ORPHA:2032
HP:0030878	Abnormality on pulmonary function testing	21	ABCA3	ORPHA:2032
HP:0030878	Abnormality on pulmonary function testing	1832	DSP	ORPHA:2032
HP:0030878	Abnormality on pulmonary function testing	727897	MUC5B	ORPHA:2032
HP:0030878	Abnormality on pulmonary function testing	10144	FAM13A	ORPHA:2032
HP:0030878	Abnormality on pulmonary function testing	23250	ATP11A	ORPHA:2032
HP:0030878	Abnormality on pulmonary function testing	91039	DPP9	ORPHA:2032
HP:0030878	Abnormality on pulmonary function testing	51750	RTEL1	ORPHA:2032
HP:0030878	Abnormality on pulmonary function testing	51750	RTEL1	OMIM:616373
HP:0030878	Abnormality on pulmonary function testing	7012	TERC	ORPHA:2032
HP:0030878	Abnormality on pulmonary function testing	5073	PARN	ORPHA:2032
HP:0030878	Abnormality on pulmonary function testing	5073	PARN	OMIM:616371
HP:0030878	Abnormality on pulmonary function testing	7138	TNNT1	OMIM:620386
HP:0030878	Abnormality on pulmonary function testing	1292	COL6A2	OMIM:255600
HP:0030878	Abnormality on pulmonary function testing	9325	TRIP4	OMIM:617066
HP:0030878	Abnormality on pulmonary function testing	345643	MCIDAS	OMIM:618695
HP:0030878	Abnormality on pulmonary function testing	3714	JAG2	OMIM:619566
HP:0030878	Abnormality on pulmonary function testing	127833	SYT2	OMIM:619461
HP:0030878	Abnormality on pulmonary function testing	89874	SLC25A21	OMIM:618811
HP:0030878	Abnormality on pulmonary function testing	6804	STX1A	ORPHA:586
HP:0030878	Abnormality on pulmonary function testing	2947	GSTM3	ORPHA:586
HP:0030878	Abnormality on pulmonary function testing	2729	GCLC	ORPHA:586
HP:0030878	Abnormality on pulmonary function testing	1084	CEACAM3	ORPHA:586
HP:0030878	Abnormality on pulmonary function testing	6556	SLC11A1	ORPHA:586
HP:0030878	Abnormality on pulmonary function testing	51164	DCTN4	ORPHA:586
HP:0030878	Abnormality on pulmonary function testing	3783	KCNN4	ORPHA:586
HP:0030878	Abnormality on pulmonary function testing	4282	MIF	ORPHA:586
HP:0030878	Abnormality on pulmonary function testing	1909	EDNRA	ORPHA:586
HP:0030878	Abnormality on pulmonary function testing	6550	SLC9A3	ORPHA:586
HP:0030878	Abnormality on pulmonary function testing	3162	HMOX1	ORPHA:586
HP:0030878	Abnormality on pulmonary function testing	115019	SLC26A9	ORPHA:586
HP:0030878	Abnormality on pulmonary function testing	3077	HFE	ORPHA:586
HP:0030878	Abnormality on pulmonary function testing	11254	SLC6A14	ORPHA:586
HP:0030878	Abnormality on pulmonary function testing	5265	SERPINA1	ORPHA:586
HP:0030878	Abnormality on pulmonary function testing	22802	CLCA4	ORPHA:586
HP:0030878	Abnormality on pulmonary function testing	4680	CEACAM6	ORPHA:586
HP:0030878	Abnormality on pulmonary function testing	1770	DNAH9	OMIM:618300
HP:0030878	Abnormality on pulmonary function testing	8106	PABPN1	ORPHA:270
HP:0030878	Abnormality on pulmonary function testing	83737	ITCH	OMIM:613385
HP:0030878	Abnormality on pulmonary function testing	26092	TOR1AIP1	OMIM:617072
HP:0030878	Abnormality on pulmonary function testing	6609	SMPD1	OMIM:607616
HP:0030878	Abnormality on pulmonary function testing	440275	EIF2AK4	ORPHA:199241
HP:0030878	Abnormality on pulmonary function testing	440275	EIF2AK4	OMIM:234810
HP:0030878	Abnormality on pulmonary function testing	64131	XYLT1	OMIM:264800
HP:0030878	Abnormality on pulmonary function testing	64132	XYLT2	OMIM:264800
HP:0030878	Abnormality on pulmonary function testing	368	ABCC6	OMIM:264800
HP:0030878	Abnormality on pulmonary function testing	26277	TINF2	OMIM:613990
HP:0030878	Abnormality on pulmonary function testing	137682	NDUFAF6	OMIM:618913
HP:0030878	Abnormality on pulmonary function testing	25913	POT1	OMIM:620367
HP:0030877	Reduced FEV1/FVC ratio	3115	HLA-DPB1	ORPHA:133
HP:0030877	Reduced FEV1/FVC ratio	8701	DNAH11	OMIM:611884
HP:0030877	Reduced FEV1/FVC ratio	2022	ENG	OMIM:187300
HP:0030877	Reduced FEV1/FVC ratio	6340	SCNN1G	ORPHA:60033
HP:0030877	Reduced FEV1/FVC ratio	1080	CFTR	ORPHA:60033
HP:0030877	Reduced FEV1/FVC ratio	6337	SCNN1A	ORPHA:60033
HP:0030877	Reduced FEV1/FVC ratio	6338	SCNN1B	ORPHA:60033
HP:0030877	Reduced FEV1/FVC ratio	56983	POGLUT1	OMIM:617232
HP:0007989	Intraretinal exudate	4693	NDP	OMIM:305390
HP:0025580	Abnormal right atrium morphology	6910	TBX5	OMIM:142900
HP:0025580	Abnormal right atrium morphology	6123	RPL3L	OMIM:619371
HP:0025580	Abnormal right atrium morphology	7092	TLL1	ORPHA:99103
HP:0025580	Abnormal right atrium morphology	7092	TLL1	ORPHA:99106
HP:0025580	Abnormal right atrium morphology	57057	TBX20	ORPHA:99103
HP:0025580	Abnormal right atrium morphology	4624	MYH6	ORPHA:99103
HP:0025580	Abnormal right atrium morphology	1482	NKX2-5	ORPHA:99103
HP:0025580	Abnormal right atrium morphology	70	ACTC1	ORPHA:99103
HP:0025580	Abnormal right atrium morphology	10370	CITED2	ORPHA:99103
HP:0025580	Abnormal right atrium morphology	2626	GATA4	ORPHA:99103
HP:0025580	Abnormal right atrium morphology	2627	GATA6	ORPHA:99103
HP:0025580	Abnormal right atrium morphology	2316	FLNA	ORPHA:555877
HP:0025580	Abnormal right atrium morphology	55388	MCM10	OMIM:619313
HP:0025580	Abnormal right atrium morphology	4607	MYBPC3	OMIM:115197
HP:0025580	Abnormal right atrium morphology	4633	MYL2	OMIM:619424
HP:0025580	Abnormal right atrium morphology	368	ABCC6	OMIM:614473
HP:0025580	Abnormal right atrium morphology	2318	FLNC	OMIM:617047
HP:0025580	Abnormal right atrium morphology	2318	FLNC	ORPHA:75249
HP:0025580	Abnormal right atrium morphology	10848	PPP1R13L	OMIM:620519
HP:0025580	Abnormal right atrium morphology	4851	NOTCH1	OMIM:616028
HP:0025580	Abnormal right atrium morphology	8815	BANF1	OMIM:614008
HP:0025580	Abnormal right atrium morphology	8777	MPDZ	OMIM:615219
HP:0025580	Abnormal right atrium morphology	7139	TNNT2	OMIM:612422
HP:0025580	Abnormal right atrium morphology	7139	TNNT2	ORPHA:75249
HP:0025580	Abnormal right atrium morphology	84665	MYPN	ORPHA:75249
HP:0025580	Abnormal right atrium morphology	7137	TNNI3	ORPHA:75249
HP:0025580	Abnormal right atrium morphology	10112	KIF20A	ORPHA:75249
HP:0025580	Abnormal right atrium morphology	10551	AGR2	OMIM:620233
HP:0025584	Hypotropia	401	PHOX2A	OMIM:602078
HP:0025584	Hypotropia	4617	MYF5	OMIM:618155
HP:0025586	Hypertropia	401	PHOX2A	OMIM:602078
HP:0025586	Hypertropia	6297	SALL2	OMIM:216820
HP:0025586	Hypertropia	2200	FBN1	OMIM:154700
HP:0025586	Hypertropia	51506	UFC1	OMIM:618076
HP:0025587	Hyperdeviation	401	PHOX2A	OMIM:602078
HP:0025587	Hyperdeviation	6297	SALL2	OMIM:216820
HP:0025587	Hyperdeviation	2200	FBN1	OMIM:154700
HP:0025587	Hyperdeviation	51506	UFC1	OMIM:618076
HP:0004751	Paroxysmal ventricular tachycardia	2771	GNAI2	OMIM:192605
HP:0004751	Paroxysmal ventricular tachycardia	23630	KCNE5	ORPHA:130
HP:0004751	Paroxysmal ventricular tachycardia	10371	SEMA3A	ORPHA:130
HP:0004751	Paroxysmal ventricular tachycardia	54795	TRPM4	ORPHA:130
HP:0004751	Paroxysmal ventricular tachycardia	10021	HCN4	ORPHA:130
HP:0004751	Paroxysmal ventricular tachycardia	3764	KCNJ8	ORPHA:130
HP:0004751	Paroxysmal ventricular tachycardia	3752	KCND3	ORPHA:130
HP:0004751	Paroxysmal ventricular tachycardia	5318	PKP2	ORPHA:130
HP:0004751	Paroxysmal ventricular tachycardia	7871	SLMAP	ORPHA:130
HP:0004751	Paroxysmal ventricular tachycardia	10060	ABCC9	ORPHA:130
HP:0004751	Paroxysmal ventricular tachycardia	29098	RANGRF	ORPHA:130
HP:0004751	Paroxysmal ventricular tachycardia	6336	SCN10A	ORPHA:130
HP:0004751	Paroxysmal ventricular tachycardia	10008	KCNE3	ORPHA:130
HP:0004751	Paroxysmal ventricular tachycardia	55800	SCN3B	ORPHA:130
HP:0004751	Paroxysmal ventricular tachycardia	10142	AKAP9	ORPHA:130
HP:0004751	Paroxysmal ventricular tachycardia	783	CACNB2	ORPHA:130
HP:0004751	Paroxysmal ventricular tachycardia	6337	SCNN1A	ORPHA:130
HP:0004751	Paroxysmal ventricular tachycardia	6327	SCN2B	ORPHA:130
HP:0004751	Paroxysmal ventricular tachycardia	781	CACNA2D1	ORPHA:130
HP:0004751	Paroxysmal ventricular tachycardia	775	CACNA1C	ORPHA:130
HP:0004751	Paroxysmal ventricular tachycardia	6324	SCN1B	ORPHA:130
HP:0004751	Paroxysmal ventricular tachycardia	6331	SCN5A	ORPHA:130
HP:0004751	Paroxysmal ventricular tachycardia	23171	GPD1L	ORPHA:130
HP:0004751	Paroxysmal ventricular tachycardia	3728	JUP	OMIM:601214
HP:0004751	Paroxysmal ventricular tachycardia	3728	JUP	ORPHA:34217
HP:0004751	Paroxysmal ventricular tachycardia	2992	GYG1	OMIM:613507
HP:0004751	Paroxysmal ventricular tachycardia	442721	LMOD2	OMIM:619897
HP:0004751	Paroxysmal ventricular tachycardia	253017	TECRL	OMIM:614021
HP:0005180	Tricuspid regurgitation	10112	KIF20A	OMIM:619433
HP:0005180	Tricuspid regurgitation	10112	KIF20A	ORPHA:75249
HP:0005180	Tricuspid regurgitation	6331	SCN5A	OMIM:614022
HP:0005180	Tricuspid regurgitation	54892	NCAPG2	OMIM:618460
HP:0005180	Tricuspid regurgitation	4750	NEK1	OMIM:263520
HP:0005180	Tricuspid regurgitation	1317	SLC31A1	OMIM:620306
HP:0005180	Tricuspid regurgitation	1788	DNMT3A	OMIM:615879
HP:0005180	Tricuspid regurgitation	1788	DNMT3A	ORPHA:404443
HP:0005180	Tricuspid regurgitation	4625	MYH7	ORPHA:1880
HP:0005180	Tricuspid regurgitation	4625	MYH7	OMIM:613426
HP:0005180	Tricuspid regurgitation	2316	FLNA	OMIM:314400
HP:0005180	Tricuspid regurgitation	2316	FLNA	ORPHA:555877
HP:0005180	Tricuspid regurgitation	90459	ERI1	OMIM:620663
HP:0005180	Tricuspid regurgitation	3032	HADHB	OMIM:620300
HP:0005180	Tricuspid regurgitation	3032	HADHB	ORPHA:746
HP:0005180	Tricuspid regurgitation	2200	FBN1	ORPHA:284979
HP:0005180	Tricuspid regurgitation	2200	FBN1	OMIM:154700
HP:0005180	Tricuspid regurgitation	411	ARSB	OMIM:253200
HP:0005180	Tricuspid regurgitation	114803	MYSM1	ORPHA:508542
HP:0005180	Tricuspid regurgitation	1278	COL1A2	ORPHA:230851
HP:0005180	Tricuspid regurgitation	55790	CSGALNACT1	OMIM:618870
HP:0005180	Tricuspid regurgitation	6392	SDHD	OMIM:619167
HP:0005180	Tricuspid regurgitation	6392	SDHD	ORPHA:100093
HP:0005180	Tricuspid regurgitation	30008	EFEMP2	OMIM:614437
HP:0005180	Tricuspid regurgitation	55033	FKBP14	OMIM:614557
HP:0005180	Tricuspid regurgitation	7125	TNNC2	OMIM:620161
HP:0005180	Tricuspid regurgitation	1340	COX6B1	OMIM:619051
HP:0005180	Tricuspid regurgitation	65082	VPS33A	ORPHA:505248
HP:0005180	Tricuspid regurgitation	56915	EXOSC5	OMIM:619576
HP:0005180	Tricuspid regurgitation	537	ATP6AP1	OMIM:300972
HP:0005180	Tricuspid regurgitation	9469	CHST3	OMIM:143095
HP:0005180	Tricuspid regurgitation	54567	DLL4	OMIM:616589
HP:0005180	Tricuspid regurgitation	388753	COA6	OMIM:616501
HP:0005180	Tricuspid regurgitation	1000	CDH2	OMIM:618929
HP:0005180	Tricuspid regurgitation	54539	NDUFB11	ORPHA:2556
HP:0005180	Tricuspid regurgitation	1349	COX7B	ORPHA:2556
HP:0005180	Tricuspid regurgitation	3052	HCCS	ORPHA:2556
HP:0005180	Tricuspid regurgitation	6045	RNF2	OMIM:619460
HP:0005180	Tricuspid regurgitation	22884	WDR37	OMIM:618652
HP:0005180	Tricuspid regurgitation	1193	CLIC2	ORPHA:324410
HP:0005180	Tricuspid regurgitation	1954	MEGF8	OMIM:614976
HP:0005180	Tricuspid regurgitation	10370	CITED2	ORPHA:99105
HP:0005180	Tricuspid regurgitation	10370	CITED2	ORPHA:99103
HP:0005180	Tricuspid regurgitation	7092	TLL1	ORPHA:99106
HP:0005180	Tricuspid regurgitation	7092	TLL1	ORPHA:99103
HP:0005180	Tricuspid regurgitation	5337	PLD1	OMIM:212093
HP:0005180	Tricuspid regurgitation	57057	TBX20	ORPHA:99103
HP:0005180	Tricuspid regurgitation	4624	MYH6	ORPHA:99103
HP:0005180	Tricuspid regurgitation	1482	NKX2-5	ORPHA:99103
HP:0005180	Tricuspid regurgitation	70	ACTC1	ORPHA:99103
HP:0005180	Tricuspid regurgitation	2626	GATA4	ORPHA:99103
HP:0005180	Tricuspid regurgitation	2627	GATA6	ORPHA:99103
HP:0005180	Tricuspid regurgitation	29957	SLC25A24	OMIM:612289
HP:0005180	Tricuspid regurgitation	5828	PEX2	OMIM:614866
HP:0005180	Tricuspid regurgitation	79770	TXNDC15	OMIM:619879
HP:0005180	Tricuspid regurgitation	3030	HADHA	ORPHA:746
HP:0005180	Tricuspid regurgitation	84665	MYPN	ORPHA:75249
HP:0005180	Tricuspid regurgitation	2318	FLNC	ORPHA:75249
HP:0005180	Tricuspid regurgitation	7139	TNNT2	ORPHA:75249
HP:0005180	Tricuspid regurgitation	7137	TNNI3	ORPHA:75249
HP:0005180	Tricuspid regurgitation	171019	ADAMTS19	OMIM:620067
HP:0005180	Tricuspid regurgitation	83475	DOHH	OMIM:620066
HP:0005180	Tricuspid regurgitation	79796	ALG9	ORPHA:79328
HP:0005180	Tricuspid regurgitation	113189	CHST14	OMIM:601776
HP:0005180	Tricuspid regurgitation	10651	MTX2	OMIM:619127
HP:0005180	Tricuspid regurgitation	1857	DVL3	OMIM:616894
HP:0005180	Tricuspid regurgitation	368	ABCC6	OMIM:614473
HP:0005180	Tricuspid regurgitation	5500	PPP1CB	OMIM:617506
HP:0005180	Tricuspid regurgitation	6901	TAFAZZIN	OMIM:302060
HP:0005180	Tricuspid regurgitation	5573	PRKAR1A	ORPHA:615
HP:0005180	Tricuspid regurgitation	10551	AGR2	OMIM:620233
HP:0005180	Tricuspid regurgitation	6329	SCN4A	OMIM:620351
HP:0005180	Tricuspid regurgitation	6123	RPL3L	OMIM:619371
HP:0005180	Tricuspid regurgitation	4841	NONO	ORPHA:466791
HP:0005180	Tricuspid regurgitation	79989	IFT56	OMIM:619534
HP:0005180	Tricuspid regurgitation	442721	LMOD2	OMIM:619897
HP:0005180	Tricuspid regurgitation	10848	PPP1R13L	OMIM:620519
HP:0005180	Tricuspid regurgitation	5885	RAD21	OMIM:611376
HP:0005180	Tricuspid regurgitation	84100	ARL6	OMIM:600151
HP:0005180	Tricuspid regurgitation	6910	TBX5	OMIM:142900
HP:0005180	Tricuspid regurgitation	57538	ALPK3	OMIM:618052
HP:0005180	Tricuspid regurgitation	546	ATRX	ORPHA:100075
HP:0005180	Tricuspid regurgitation	341208	HEPHL1	OMIM:261990
HP:0005180	Tricuspid regurgitation	96459	FNIP1	OMIM:619705
HP:0005180	Tricuspid regurgitation	529	ATP6V1E1	OMIM:617402
HP:0005180	Tricuspid regurgitation	90952	ESAM	OMIM:620371
HP:0004754	Permanent atrial fibrillation	3762	KCNJ5	OMIM:613485
HP:0004754	Permanent atrial fibrillation	3759	KCNJ2	OMIM:613980
HP:0004754	Permanent atrial fibrillation	4635	MYL4	OMIM:617280
HP:0004754	Permanent atrial fibrillation	3784	KCNQ1	OMIM:607554
HP:0004754	Permanent atrial fibrillation	6331	SCN5A	OMIM:614022
HP:0004754	Permanent atrial fibrillation	2318	FLNC	OMIM:617047
HP:0004754	Permanent atrial fibrillation	9992	KCNE2	OMIM:611493
HP:0004754	Permanent atrial fibrillation	55800	SCN3B	OMIM:613120
HP:0004754	Permanent atrial fibrillation	3741	KCNA5	OMIM:612240
HP:0004755	Supraventricular tachycardia	6331	SCN5A	OMIM:601154
HP:0004755	Supraventricular tachycardia	6331	SCN5A	ORPHA:130
HP:0004755	Supraventricular tachycardia	284252	KCTD1	OMIM:181270
HP:0004755	Supraventricular tachycardia	7092	TLL1	ORPHA:99103
HP:0004755	Supraventricular tachycardia	57057	TBX20	ORPHA:99103
HP:0004755	Supraventricular tachycardia	4624	MYH6	ORPHA:99103
HP:0004755	Supraventricular tachycardia	1482	NKX2-5	ORPHA:99103
HP:0004755	Supraventricular tachycardia	70	ACTC1	ORPHA:99103
HP:0004755	Supraventricular tachycardia	10370	CITED2	ORPHA:99103
HP:0004755	Supraventricular tachycardia	10370	CITED2	ORPHA:99105
HP:0004755	Supraventricular tachycardia	2626	GATA4	ORPHA:99103
HP:0004755	Supraventricular tachycardia	2627	GATA6	ORPHA:99103
HP:0004755	Supraventricular tachycardia	23630	KCNE5	ORPHA:130
HP:0004755	Supraventricular tachycardia	10371	SEMA3A	ORPHA:130
HP:0004755	Supraventricular tachycardia	54795	TRPM4	ORPHA:130
HP:0004755	Supraventricular tachycardia	10021	HCN4	ORPHA:130
HP:0004755	Supraventricular tachycardia	3764	KCNJ8	ORPHA:130
HP:0004755	Supraventricular tachycardia	3752	KCND3	ORPHA:130
HP:0004755	Supraventricular tachycardia	5318	PKP2	ORPHA:130
HP:0004755	Supraventricular tachycardia	7871	SLMAP	ORPHA:130
HP:0004755	Supraventricular tachycardia	10060	ABCC9	ORPHA:130
HP:0004755	Supraventricular tachycardia	29098	RANGRF	ORPHA:130
HP:0004755	Supraventricular tachycardia	6336	SCN10A	ORPHA:130
HP:0004755	Supraventricular tachycardia	10008	KCNE3	ORPHA:130
HP:0004755	Supraventricular tachycardia	55800	SCN3B	ORPHA:130
HP:0004755	Supraventricular tachycardia	10142	AKAP9	ORPHA:130
HP:0004755	Supraventricular tachycardia	783	CACNB2	ORPHA:130
HP:0004755	Supraventricular tachycardia	6337	SCNN1A	ORPHA:130
HP:0004755	Supraventricular tachycardia	6327	SCN2B	ORPHA:130
HP:0004755	Supraventricular tachycardia	781	CACNA2D1	ORPHA:130
HP:0004755	Supraventricular tachycardia	775	CACNA1C	ORPHA:130
HP:0004755	Supraventricular tachycardia	6324	SCN1B	ORPHA:130
HP:0004755	Supraventricular tachycardia	23171	GPD1L	ORPHA:130
HP:0004755	Supraventricular tachycardia	4633	MYL2	OMIM:608758
HP:0004755	Supraventricular tachycardia	26235	FBXL4	OMIM:615471
HP:0004755	Supraventricular tachycardia	4000	LMNA	ORPHA:300751
HP:0004755	Supraventricular tachycardia	9631	NUP155	OMIM:615770
HP:0004755	Supraventricular tachycardia	8260	NAA10	OMIM:300855
HP:0004755	Supraventricular tachycardia	80308	FLAD1	OMIM:255100
HP:0004755	Supraventricular tachycardia	4519	MT-CYB	ORPHA:137675
HP:0004755	Supraventricular tachycardia	88	ACTN2	OMIM:612158
HP:0004755	Supraventricular tachycardia	801	CALM1	ORPHA:3286
HP:0004755	Supraventricular tachycardia	805	CALM2	ORPHA:3286
HP:0004755	Supraventricular tachycardia	253017	TECRL	ORPHA:3286
HP:0004755	Supraventricular tachycardia	10345	TRDN	ORPHA:3286
HP:0004755	Supraventricular tachycardia	808	CALM3	ORPHA:3286
HP:0004755	Supraventricular tachycardia	845	CASQ2	ORPHA:3286
HP:0004755	Supraventricular tachycardia	6262	RYR2	ORPHA:3286
HP:0004755	Supraventricular tachycardia	779	CACNA1S	ORPHA:423
HP:0004755	Supraventricular tachycardia	6261	RYR1	ORPHA:423
HP:0004755	Supraventricular tachycardia	10486	CAP2	OMIM:620462
HP:0004755	Supraventricular tachycardia	650	BMP2	OMIM:617877
HP:0004755	Supraventricular tachycardia	51086	TNNI3K	OMIM:616117
HP:0004755	Supraventricular tachycardia	10560	SLC19A2	ORPHA:49827
HP:0004755	Supraventricular tachycardia	161742	SPRED1	ORPHA:137605
HP:0004755	Supraventricular tachycardia	1788	DNMT3A	ORPHA:404443
HP:0004755	Supraventricular tachycardia	54539	NDUFB11	OMIM:309801
HP:0004755	Supraventricular tachycardia	1349	COX7B	OMIM:309801
HP:0004755	Supraventricular tachycardia	3052	HCCS	OMIM:309801
HP:0004755	Supraventricular tachycardia	7273	TTN	OMIM:611705
HP:0004756	Ventricular tachycardia	2771	GNAI2	OMIM:192605
HP:0004756	Ventricular tachycardia	23630	KCNE5	ORPHA:130
HP:0004756	Ventricular tachycardia	10371	SEMA3A	ORPHA:130
HP:0004756	Ventricular tachycardia	54795	TRPM4	ORPHA:130
HP:0004756	Ventricular tachycardia	3764	KCNJ8	ORPHA:130
HP:0004756	Ventricular tachycardia	3752	KCND3	ORPHA:130
HP:0004756	Ventricular tachycardia	7871	SLMAP	ORPHA:130
HP:0004756	Ventricular tachycardia	29098	RANGRF	ORPHA:130
HP:0004756	Ventricular tachycardia	6336	SCN10A	ORPHA:130
HP:0004756	Ventricular tachycardia	10008	KCNE3	ORPHA:130
HP:0004756	Ventricular tachycardia	55800	SCN3B	ORPHA:130
HP:0004756	Ventricular tachycardia	10142	AKAP9	ORPHA:130
HP:0004756	Ventricular tachycardia	783	CACNB2	ORPHA:130
HP:0004756	Ventricular tachycardia	6337	SCNN1A	ORPHA:130
HP:0004756	Ventricular tachycardia	6327	SCN2B	ORPHA:130
HP:0004756	Ventricular tachycardia	781	CACNA2D1	ORPHA:130
HP:0004756	Ventricular tachycardia	6324	SCN1B	ORPHA:130
HP:0004756	Ventricular tachycardia	23171	GPD1L	ORPHA:130
HP:0004756	Ventricular tachycardia	442721	LMOD2	OMIM:619897
HP:0004756	Ventricular tachycardia	4624	MYH6	OMIM:613251
HP:0004756	Ventricular tachycardia	54539	NDUFB11	OMIM:300952
HP:0004756	Ventricular tachycardia	253017	TECRL	OMIM:614021
HP:0004756	Ventricular tachycardia	253017	TECRL	ORPHA:3286
HP:0004756	Ventricular tachycardia	8048	CSRP3	OMIM:612124
HP:0004756	Ventricular tachycardia	4519	MT-CYB	ORPHA:137675
HP:0004756	Ventricular tachycardia	788	SLC25A20	OMIM:212138
HP:0004756	Ventricular tachycardia	788	SLC25A20	ORPHA:159
HP:0004756	Ventricular tachycardia	845	CASQ2	OMIM:604772
HP:0004756	Ventricular tachycardia	845	CASQ2	ORPHA:3286
HP:0004756	Ventricular tachycardia	845	CASQ2	OMIM:611938
HP:0004756	Ventricular tachycardia	10345	TRDN	OMIM:604772
HP:0004756	Ventricular tachycardia	10345	TRDN	ORPHA:3286
HP:0004756	Ventricular tachycardia	6262	RYR2	OMIM:604772
HP:0004756	Ventricular tachycardia	6262	RYR2	ORPHA:3286
HP:0004756	Ventricular tachycardia	7168	TPM1	OMIM:611878
HP:0004756	Ventricular tachycardia	779	CACNA1S	ORPHA:423
HP:0004756	Ventricular tachycardia	6261	RYR1	ORPHA:423
HP:0004756	Ventricular tachycardia	6331	SCN5A	OMIM:603830
HP:0004756	Ventricular tachycardia	6331	SCN5A	ORPHA:1344
HP:0004756	Ventricular tachycardia	79188	TMEM43	OMIM:604400
HP:0004756	Ventricular tachycardia	10060	ABCC9	OMIM:608569
HP:0004756	Ventricular tachycardia	1829	DSG2	OMIM:610193
HP:0004756	Ventricular tachycardia	70	ACTC1	OMIM:612098
HP:0004756	Ventricular tachycardia	1376	CPT2	OMIM:600649
HP:0004756	Ventricular tachycardia	4625	MYH7	OMIM:613426
HP:0004756	Ventricular tachycardia	3728	JUP	OMIM:611528
HP:0004756	Ventricular tachycardia	801	CALM1	OMIM:614916
HP:0004756	Ventricular tachycardia	801	CALM1	ORPHA:3286
HP:0004756	Ventricular tachycardia	4633	MYL2	OMIM:608758
HP:0004756	Ventricular tachycardia	775	CACNA1C	OMIM:601005
HP:0004756	Ventricular tachycardia	3920	LAMP2	OMIM:300257
HP:0004756	Ventricular tachycardia	10848	PPP1R13L	OMIM:620519
HP:0004756	Ventricular tachycardia	8260	NAA10	OMIM:300855
HP:0004756	Ventricular tachycardia	4878	NPPA	ORPHA:1344
HP:0004756	Ventricular tachycardia	57158	JPH2	OMIM:613873
HP:0004756	Ventricular tachycardia	5318	PKP2	OMIM:609040
HP:0004756	Ventricular tachycardia	1000	CDH2	OMIM:618920
HP:0004756	Ventricular tachycardia	805	CALM2	ORPHA:3286
HP:0004756	Ventricular tachycardia	808	CALM3	ORPHA:3286
HP:0004756	Ventricular tachycardia	29119	CTNNA3	OMIM:615616
HP:0004756	Ventricular tachycardia	51778	MYOZ2	OMIM:613838
HP:0004756	Ventricular tachycardia	37	ACADVL	ORPHA:26793
HP:0004756	Ventricular tachycardia	6910	TBX5	OMIM:142900
HP:0004756	Ventricular tachycardia	1832	DSP	OMIM:605676
HP:0004756	Ventricular tachycardia	1832	DSP	OMIM:615821
HP:0004756	Ventricular tachycardia	1832	DSP	OMIM:607450
HP:0004756	Ventricular tachycardia	1410	CRYAB	OMIM:615184
HP:0004756	Ventricular tachycardia	2992	GYG1	ORPHA:263297
HP:0004756	Ventricular tachycardia	10021	HCN4	OMIM:613123
HP:0004756	Ventricular tachycardia	6559	SLC12A3	OMIM:263800
HP:0004756	Ventricular tachycardia	128989	TANGO2	OMIM:616878
HP:0004756	Ventricular tachycardia	4000	LMNA	OMIM:613205
HP:0004756	Ventricular tachycardia	9529	BAG5	OMIM:619747
HP:0004756	Ventricular tachycardia	78987	CRELD1	OMIM:620771
HP:0004756	Ventricular tachycardia	7273	TTN	OMIM:604145
HP:0004756	Ventricular tachycardia	56244	BTNL2	ORPHA:797
HP:0004756	Ventricular tachycardia	3123	HLA-DRB1	ORPHA:797
HP:0004756	Ventricular tachycardia	3762	KCNJ5	ORPHA:37553
HP:0004756	Ventricular tachycardia	3759	KCNJ2	ORPHA:37553
HP:0004757	Paroxysmal atrial fibrillation	6910	TBX5	ORPHA:392
HP:0004757	Paroxysmal atrial fibrillation	6331	SCN5A	OMIM:614022
HP:0004757	Paroxysmal atrial fibrillation	9992	KCNE2	OMIM:611493
HP:0004757	Paroxysmal atrial fibrillation	3741	KCNA5	OMIM:612240
HP:0004757	Paroxysmal atrial fibrillation	6324	SCN1B	OMIM:615377
HP:0004757	Paroxysmal atrial fibrillation	8048	CSRP3	OMIM:612124
HP:0004757	Paroxysmal atrial fibrillation	6327	SCN2B	OMIM:615378
HP:0004757	Paroxysmal atrial fibrillation	5350	PLN	OMIM:613874
HP:0004757	Paroxysmal atrial fibrillation	51422	PRKAG2	OMIM:194200
HP:0004757	Paroxysmal atrial fibrillation	3759	KCNJ2	OMIM:609622
HP:0004757	Paroxysmal atrial fibrillation	3759	KCNJ2	OMIM:613980
HP:0004757	Paroxysmal atrial fibrillation	29967	LRP12	OMIM:164310
HP:0004757	Paroxysmal atrial fibrillation	3757	KCNH2	OMIM:609620
HP:0004757	Paroxysmal atrial fibrillation	845	CASQ2	OMIM:604772
HP:0004757	Paroxysmal atrial fibrillation	10345	TRDN	OMIM:604772
HP:0004757	Paroxysmal atrial fibrillation	6262	RYR2	OMIM:604772
HP:0004757	Paroxysmal atrial fibrillation	10021	HCN4	OMIM:163800
HP:0004757	Paroxysmal atrial fibrillation	2702	GJA5	OMIM:108770
HP:0004757	Paroxysmal atrial fibrillation	4635	MYL4	OMIM:617280
HP:0004757	Paroxysmal atrial fibrillation	10060	ABCC9	OMIM:614050
HP:0004757	Paroxysmal atrial fibrillation	55800	SCN3B	OMIM:613120
HP:0004757	Paroxysmal atrial fibrillation	2783	GNB2	OMIM:619464
HP:0004757	Paroxysmal atrial fibrillation	4000	LMNA	OMIM:613205
HP:0004757	Paroxysmal atrial fibrillation	3784	KCNQ1	OMIM:607554
HP:0004758	Effort-induced polymorphic ventricular tachycardia	845	CASQ2	OMIM:604772
HP:0004758	Effort-induced polymorphic ventricular tachycardia	10345	TRDN	OMIM:604772
HP:0004758	Effort-induced polymorphic ventricular tachycardia	6262	RYR2	OMIM:604772
HP:0025588	Hypodeviation	401	PHOX2A	OMIM:602078
HP:0025588	Hypodeviation	4617	MYF5	OMIM:618155
HP:0030886	Abnormal lymphocyte apoptosis	4893	NRAS	OMIM:614470
HP:0030886	Abnormal lymphocyte apoptosis	3845	KRAS	OMIM:614470
HP:0030886	Abnormal lymphocyte apoptosis	355	FAS	ORPHA:3261
HP:0030886	Abnormal lymphocyte apoptosis	356	FASLG	ORPHA:3261
HP:0030886	Abnormal lymphocyte apoptosis	843	CASP10	ORPHA:3261
HP:0030886	Abnormal lymphocyte apoptosis	841	CASP8	OMIM:607271
HP:0001501	6 metacarpals	64327	LMBR1	ORPHA:93405
HP:0001501	6 metacarpals	64327	LMBR1	OMIM:186200
HP:0001501	6 metacarpals	6469	SHH	ORPHA:93405
HP:0001501	6 metacarpals	3239	HOXD13	OMIM:186000
HP:0011302	Long palm	6611	SMS	OMIM:309583
HP:0011302	Long palm	81031	SLC2A10	ORPHA:3342
HP:0011302	Long palm	65109	UPF3B	OMIM:300676
HP:0011302	Long palm	89910	UBE3B	OMIM:244450
HP:0011302	Long palm	5447	POR	ORPHA:95699
HP:0001504	Metacarpal osteolysis	9935	MAFB	OMIM:166300
HP:0001504	Metacarpal osteolysis	9935	MAFB	ORPHA:2774
HP:0001504	Metacarpal osteolysis	4313	MMP2	OMIM:259600
HP:0025590	Abnormal extraocular muscle physiology	7543	ZFX	OMIM:301118
HP:0025590	Abnormal extraocular muscle physiology	2200	FBN1	OMIM:154700
HP:0025591	Abnormal superior oblique muscle physiology	7543	ZFX	OMIM:301118
HP:0025592	Superior oblique muscle weakness	7543	ZFX	OMIM:301118
HP:0025596	Abnormal inferior oblique muscle physiology	2200	FBN1	OMIM:154700
HP:0001671	Abnormal cardiac septum morphology	8036	SHOC2	OMIM:607721
HP:0001671	Abnormal cardiac septum morphology	10617	STAMBP	OMIM:614261
HP:0001671	Abnormal cardiac septum morphology	28981	IFT81	OMIM:617895
HP:0001671	Abnormal cardiac septum morphology	776	CACNA1D	OMIM:615474
HP:0001671	Abnormal cardiac septum morphology	776	CACNA1D	ORPHA:369929
HP:0001671	Abnormal cardiac septum morphology	91754	NEK9	OMIM:614262
HP:0001671	Abnormal cardiac septum morphology	91754	NEK9	OMIM:617022
HP:0001671	Abnormal cardiac septum morphology	2132	EXT2	OMIM:616682
HP:0001671	Abnormal cardiac septum morphology	1024	CDK8	OMIM:618748
HP:0001671	Abnormal cardiac septum morphology	6659	SOX4	OMIM:618506
HP:0001671	Abnormal cardiac septum morphology	6659	SOX4	ORPHA:1465
HP:0001671	Abnormal cardiac septum morphology	6016	RIT1	OMIM:615355
HP:0001671	Abnormal cardiac septum morphology	51126	NAA20	OMIM:619717
HP:0001671	Abnormal cardiac septum morphology	2972	BRF1	OMIM:616202
HP:0001671	Abnormal cardiac septum morphology	2972	BRF1	ORPHA:444072
HP:0001671	Abnormal cardiac septum morphology	9231	DLG5	OMIM:620703
HP:0001671	Abnormal cardiac septum morphology	81857	MED25	OMIM:616449
HP:0001671	Abnormal cardiac septum morphology	81857	MED25	ORPHA:464738
HP:0001671	Abnormal cardiac septum morphology	22800	RRAS2	OMIM:618624
HP:0001671	Abnormal cardiac septum morphology	5927	KDM5A	OMIM:620820
HP:0001671	Abnormal cardiac septum morphology	91801	ALKBH8	OMIM:618504
HP:0001671	Abnormal cardiac septum morphology	1131	CHRM3	ORPHA:2970
HP:0001671	Abnormal cardiac septum morphology	64220	STRA6	OMIM:601186
HP:0001671	Abnormal cardiac septum morphology	55209	SETD5	ORPHA:404440
HP:0001671	Abnormal cardiac septum morphology	3190	HNRNPK	ORPHA:453504
HP:0001671	Abnormal cardiac septum morphology	3190	HNRNPK	ORPHA:352665
HP:0001671	Abnormal cardiac septum morphology	10743	RAI1	ORPHA:477817
HP:0001671	Abnormal cardiac septum morphology	55790	CSGALNACT1	OMIM:618870
HP:0001671	Abnormal cardiac septum morphology	55790	CSGALNACT1	ORPHA:1425
HP:0001671	Abnormal cardiac septum morphology	79639	TMEM53	OMIM:619727
HP:0001671	Abnormal cardiac septum morphology	2201	FBN2	OMIM:121050
HP:0001671	Abnormal cardiac septum morphology	23384	SPECC1L	ORPHA:1519
HP:0001671	Abnormal cardiac septum morphology	23384	SPECC1L	OMIM:145420
HP:0001671	Abnormal cardiac septum morphology	7086	TKT	ORPHA:488618
HP:0001671	Abnormal cardiac septum morphology	7086	TKT	OMIM:617044
HP:0001671	Abnormal cardiac septum morphology	5189	PEX1	OMIM:214100
HP:0001671	Abnormal cardiac septum morphology	5189	PEX1	ORPHA:912
HP:0001671	Abnormal cardiac septum morphology	284058	KANSL1	ORPHA:363958
HP:0001671	Abnormal cardiac septum morphology	284058	KANSL1	OMIM:610443
HP:0001671	Abnormal cardiac septum morphology	284058	KANSL1	ORPHA:363965
HP:0001671	Abnormal cardiac septum morphology	9469	CHST3	OMIM:143095
HP:0001671	Abnormal cardiac septum morphology	7021	TFAP2B	ORPHA:46627
HP:0001671	Abnormal cardiac septum morphology	54567	DLL4	OMIM:616589
HP:0001671	Abnormal cardiac septum morphology	815	CAMK2A	OMIM:617798
HP:0001671	Abnormal cardiac septum morphology	4853	NOTCH2	OMIM:102500
HP:0001671	Abnormal cardiac septum morphology	4853	NOTCH2	ORPHA:955
HP:0001671	Abnormal cardiac septum morphology	7994	KAT6A	ORPHA:457193
HP:0001671	Abnormal cardiac septum morphology	7994	KAT6A	OMIM:616268
HP:0001671	Abnormal cardiac septum morphology	64359	NXN	ORPHA:1507
HP:0001671	Abnormal cardiac septum morphology	4920	ROR2	ORPHA:1507
HP:0001671	Abnormal cardiac septum morphology	4920	ROR2	OMIM:113000
HP:0001671	Abnormal cardiac septum morphology	2697	GJA1	ORPHA:2710
HP:0001671	Abnormal cardiac septum morphology	4313	MMP2	ORPHA:371428
HP:0001671	Abnormal cardiac septum morphology	4323	MMP14	ORPHA:371428
HP:0001671	Abnormal cardiac septum morphology	6926	TBX3	OMIM:181450
HP:0001671	Abnormal cardiac septum morphology	6926	TBX3	ORPHA:3138
HP:0001671	Abnormal cardiac septum morphology	4763	NF1	ORPHA:363700
HP:0001671	Abnormal cardiac septum morphology	4763	NF1	OMIM:162200
HP:0001671	Abnormal cardiac septum morphology	22884	WDR37	OMIM:618652
HP:0001671	Abnormal cardiac septum morphology	7386	UQCRFS1	OMIM:618775
HP:0001671	Abnormal cardiac septum morphology	64121	RRAGC	OMIM:620609
HP:0001671	Abnormal cardiac septum morphology	23327	NEDD4L	OMIM:617201
HP:0001671	Abnormal cardiac septum morphology	93627	TBCK	ORPHA:488632
HP:0001671	Abnormal cardiac septum morphology	2783	GNB2	OMIM:619503
HP:0001671	Abnormal cardiac septum morphology	64132	XYLT2	ORPHA:85194
HP:0001671	Abnormal cardiac septum morphology	26834	RNU4-2	OMIM:620851
HP:0001671	Abnormal cardiac septum morphology	4247	MGAT2	OMIM:212066
HP:0001671	Abnormal cardiac septum morphology	4247	MGAT2	ORPHA:79329
HP:0001671	Abnormal cardiac septum morphology	81794	ADAMTS10	OMIM:277600
HP:0001671	Abnormal cardiac septum morphology	81794	ADAMTS10	ORPHA:3449
HP:0001671	Abnormal cardiac septum morphology	3476	IGBP1	ORPHA:52055
HP:0001671	Abnormal cardiac septum morphology	3476	IGBP1	OMIM:300472
HP:0001671	Abnormal cardiac septum morphology	5337	PLD1	OMIM:212093
HP:0001671	Abnormal cardiac septum morphology	8493	PPM1D	OMIM:617450
HP:0001671	Abnormal cardiac septum morphology	56006	SMG9	OMIM:619995
HP:0001671	Abnormal cardiac septum morphology	56006	SMG9	OMIM:616920
HP:0001671	Abnormal cardiac septum morphology	54914	FOCAD	OMIM:619991
HP:0001671	Abnormal cardiac septum morphology	51633	OTUD6B	OMIM:617452
HP:0001671	Abnormal cardiac septum morphology	51633	OTUD6B	ORPHA:505237
HP:0001671	Abnormal cardiac septum morphology	4613	MYCN	OMIM:620748
HP:0001671	Abnormal cardiac septum morphology	4613	MYCN	OMIM:164280
HP:0001671	Abnormal cardiac septum morphology	27125	AFF4	OMIM:616368
HP:0001671	Abnormal cardiac septum morphology	27125	AFF4	ORPHA:444077
HP:0001671	Abnormal cardiac septum morphology	5604	MAP2K1	OMIM:615279
HP:0001671	Abnormal cardiac septum morphology	5604	MAP2K1	OMIM:163950
HP:0001671	Abnormal cardiac septum morphology	150468	CKAP2L	OMIM:272440
HP:0001671	Abnormal cardiac septum morphology	150468	CKAP2L	ORPHA:3255
HP:0001671	Abnormal cardiac septum morphology	6134	RPL10	ORPHA:459070
HP:0001671	Abnormal cardiac septum morphology	6134	RPL10	OMIM:300998
HP:0001671	Abnormal cardiac septum morphology	415	ARSL	ORPHA:79345
HP:0001671	Abnormal cardiac septum morphology	1859	DYRK1A	ORPHA:464311
HP:0001671	Abnormal cardiac septum morphology	1859	DYRK1A	ORPHA:268261
HP:0001671	Abnormal cardiac septum morphology	79796	ALG9	ORPHA:79328
HP:0001671	Abnormal cardiac septum morphology	8314	BAP1	OMIM:619762
HP:0001671	Abnormal cardiac septum morphology	7750	ZMYM2	OMIM:619522
HP:0001671	Abnormal cardiac septum morphology	9158	FIBP	OMIM:617107
HP:0001671	Abnormal cardiac septum morphology	9158	FIBP	ORPHA:500095
HP:0001671	Abnormal cardiac septum morphology	200424	TET3	OMIM:618798
HP:0001671	Abnormal cardiac septum morphology	2542	SLC37A4	OMIM:619525
HP:0001671	Abnormal cardiac septum morphology	9772	TMEM94	OMIM:618316
HP:0001671	Abnormal cardiac septum morphology	57466	SCAF4	OMIM:620511
HP:0001671	Abnormal cardiac septum morphology	54487	DGCR8	OMIM:192430
HP:0001671	Abnormal cardiac septum morphology	8214	DGCR6	OMIM:192430
HP:0001671	Abnormal cardiac septum morphology	8220	ESS2	OMIM:192430
HP:0001671	Abnormal cardiac septum morphology	9993	DGCR2	OMIM:192430
HP:0001671	Abnormal cardiac septum morphology	51341	ZBTB7A	OMIM:619769
HP:0001671	Abnormal cardiac septum morphology	9968	MED12	OMIM:301068
HP:0001671	Abnormal cardiac septum morphology	9968	MED12	OMIM:309520
HP:0001671	Abnormal cardiac septum morphology	4621	MYH3	OMIM:178110
HP:0001671	Abnormal cardiac septum morphology	775	CACNA1C	OMIM:601005
HP:0001671	Abnormal cardiac septum morphology	2239	GPC4	ORPHA:373
HP:0001671	Abnormal cardiac septum morphology	2239	GPC4	OMIM:312870
HP:0001671	Abnormal cardiac septum morphology	2719	GPC3	ORPHA:373
HP:0001671	Abnormal cardiac septum morphology	2719	GPC3	OMIM:312870
HP:0001671	Abnormal cardiac septum morphology	23007	PLCH1	OMIM:619895
HP:0001671	Abnormal cardiac septum morphology	23483	TGDS	OMIM:616145
HP:0001671	Abnormal cardiac septum morphology	23483	TGDS	ORPHA:1388
HP:0001671	Abnormal cardiac septum morphology	10848	PPP1R13L	OMIM:620519
HP:0001671	Abnormal cardiac septum morphology	285203	EOGT	OMIM:615297
HP:0001671	Abnormal cardiac septum morphology	8565	YARS1	OMIM:619418
HP:0001671	Abnormal cardiac septum morphology	54916	TMEM260	OMIM:617478
HP:0001671	Abnormal cardiac septum morphology	25836	NIPBL	OMIM:122470
HP:0001671	Abnormal cardiac septum morphology	25836	NIPBL	ORPHA:199
HP:0001671	Abnormal cardiac septum morphology	23499	MACF1	OMIM:618325
HP:0001671	Abnormal cardiac septum morphology	3930	LBR	OMIM:169400
HP:0001671	Abnormal cardiac septum morphology	404672	GTF2H5	ORPHA:33364
HP:0001671	Abnormal cardiac septum morphology	833	CARS1	ORPHA:33364
HP:0001671	Abnormal cardiac septum morphology	2068	ERCC2	ORPHA:33364
HP:0001671	Abnormal cardiac septum morphology	7737	RNF113A	ORPHA:33364
HP:0001671	Abnormal cardiac septum morphology	136647	MPLKIP	ORPHA:33364
HP:0001671	Abnormal cardiac septum morphology	136647	MPLKIP	OMIM:234050
HP:0001671	Abnormal cardiac septum morphology	6897	TARS1	ORPHA:33364
HP:0001671	Abnormal cardiac septum morphology	16	AARS1	ORPHA:33364
HP:0001671	Abnormal cardiac septum morphology	2071	ERCC3	ORPHA:33364
HP:0001671	Abnormal cardiac septum morphology	2961	GTF2E2	ORPHA:33364
HP:0001671	Abnormal cardiac septum morphology	54361	WNT4	OMIM:611812
HP:0001671	Abnormal cardiac septum morphology	54361	WNT4	ORPHA:139466
HP:0001671	Abnormal cardiac septum morphology	286204	CRB2	OMIM:219730
HP:0001671	Abnormal cardiac septum morphology	9896	FIG4	OMIM:216340
HP:0001671	Abnormal cardiac septum morphology	9896	FIG4	ORPHA:3472
HP:0001671	Abnormal cardiac septum morphology	6138	RPL15	ORPHA:124
HP:0001671	Abnormal cardiac septum morphology	6138	RPL15	OMIM:615550
HP:0001671	Abnormal cardiac septum morphology	6224	RPS20	ORPHA:124
HP:0001671	Abnormal cardiac septum morphology	6165	RPL35A	ORPHA:124
HP:0001671	Abnormal cardiac septum morphology	6165	RPL35A	OMIM:612528
HP:0001671	Abnormal cardiac septum morphology	6132	RPL8	ORPHA:124
HP:0001671	Abnormal cardiac septum morphology	6223	RPS19	ORPHA:124
HP:0001671	Abnormal cardiac septum morphology	6223	RPS19	OMIM:105650
HP:0001671	Abnormal cardiac septum morphology	6232	RPS27	ORPHA:124
HP:0001671	Abnormal cardiac septum morphology	55027	HEATR3	ORPHA:124
HP:0001671	Abnormal cardiac septum morphology	6160	RPL31	ORPHA:124
HP:0001671	Abnormal cardiac septum morphology	6201	RPS7	ORPHA:124
HP:0001671	Abnormal cardiac septum morphology	6155	RPL27	ORPHA:124
HP:0001671	Abnormal cardiac septum morphology	6234	RPS28	ORPHA:124
HP:0001671	Abnormal cardiac septum morphology	6135	RPL11	ORPHA:124
HP:0001671	Abnormal cardiac septum morphology	6135	RPL11	OMIM:612562
HP:0001671	Abnormal cardiac septum morphology	6229	RPS24	ORPHA:124
HP:0001671	Abnormal cardiac septum morphology	6125	RPL5	ORPHA:124
HP:0001671	Abnormal cardiac septum morphology	6125	RPL5	OMIM:612561
HP:0001671	Abnormal cardiac septum morphology	6204	RPS10	ORPHA:124
HP:0001671	Abnormal cardiac septum morphology	2623	GATA1	ORPHA:124
HP:0001671	Abnormal cardiac septum morphology	6133	RPL9	ORPHA:124
HP:0001671	Abnormal cardiac septum morphology	6231	RPS26	ORPHA:124
HP:0001671	Abnormal cardiac septum morphology	6231	RPS26	OMIM:613309
HP:0001671	Abnormal cardiac septum morphology	11224	RPL35	ORPHA:124
HP:0001671	Abnormal cardiac septum morphology	6218	RPS17	ORPHA:124
HP:0001671	Abnormal cardiac septum morphology	6154	RPL26	ORPHA:124
HP:0001671	Abnormal cardiac septum morphology	6210	RPS15A	ORPHA:124
HP:0001671	Abnormal cardiac septum morphology	90121	TSR2	ORPHA:124
HP:0001671	Abnormal cardiac septum morphology	6141	RPL18	ORPHA:124
HP:0001671	Abnormal cardiac septum morphology	6235	RPS29	ORPHA:124
HP:0001671	Abnormal cardiac septum morphology	51816	ADA2	ORPHA:124
HP:0001671	Abnormal cardiac septum morphology	6261	RYR1	OMIM:619542
HP:0001671	Abnormal cardiac septum morphology	8295	TRRAP	OMIM:618454
HP:0001671	Abnormal cardiac septum morphology	8621	CDK13	OMIM:617360
HP:0001671	Abnormal cardiac septum morphology	93233	ODAD1	OMIM:615067
HP:0001671	Abnormal cardiac septum morphology	1892	ECHS1	OMIM:616277
HP:0001671	Abnormal cardiac septum morphology	51117	COQ4	OMIM:616276
HP:0001671	Abnormal cardiac septum morphology	1523	CUX1	OMIM:618330
HP:0001671	Abnormal cardiac septum morphology	4212	MEIS2	ORPHA:261190
HP:0001671	Abnormal cardiac septum morphology	4212	MEIS2	OMIM:600987
HP:0001671	Abnormal cardiac septum morphology	115948	ODAD3	OMIM:616037
HP:0001671	Abnormal cardiac septum morphology	5908	RAP1B	OMIM:620654
HP:0001671	Abnormal cardiac septum morphology	55770	EXOC2	OMIM:619306
HP:0001671	Abnormal cardiac septum morphology	27145	FILIP1	OMIM:620775
HP:0001671	Abnormal cardiac septum morphology	6654	SOS1	OMIM:610733
HP:0001671	Abnormal cardiac septum morphology	6792	CDKL5	ORPHA:1934
HP:0001671	Abnormal cardiac septum morphology	3736	KCNA1	ORPHA:1934
HP:0001671	Abnormal cardiac septum morphology	9091	PIGQ	ORPHA:1934
HP:0001671	Abnormal cardiac septum morphology	140679	SLC32A1	ORPHA:1934
HP:0001671	Abnormal cardiac septum morphology	2775	GNAO1	ORPHA:1934
HP:0001671	Abnormal cardiac septum morphology	81603	TRIM8	ORPHA:1934
HP:0001671	Abnormal cardiac septum morphology	2902	GRIN1	ORPHA:1934
HP:0001671	Abnormal cardiac septum morphology	79751	SLC25A22	ORPHA:1934
HP:0001671	Abnormal cardiac septum morphology	150094	SIK1	ORPHA:1934
HP:0001671	Abnormal cardiac septum morphology	8573	CASK	ORPHA:1934
HP:0001671	Abnormal cardiac septum morphology	23312	DMXL2	ORPHA:1934
HP:0001671	Abnormal cardiac septum morphology	2917	GRM7	ORPHA:1934
HP:0001671	Abnormal cardiac septum morphology	170302	ARX	ORPHA:1934
HP:0001671	Abnormal cardiac septum morphology	170302	ARX	ORPHA:452
HP:0001671	Abnormal cardiac septum morphology	11284	PNKP	ORPHA:1934
HP:0001671	Abnormal cardiac septum morphology	6326	SCN2A	ORPHA:1934
HP:0001671	Abnormal cardiac septum morphology	51227	PIGP	ORPHA:1934
HP:0001671	Abnormal cardiac septum morphology	6324	SCN1B	ORPHA:1934
HP:0001671	Abnormal cardiac septum morphology	4761	NEUROD2	ORPHA:1934
HP:0001671	Abnormal cardiac septum morphology	2263	FGFR2	OMIM:101200
HP:0001671	Abnormal cardiac septum morphology	388015	RTL1	ORPHA:254534
HP:0001671	Abnormal cardiac septum morphology	388015	RTL1	ORPHA:96334
HP:0001671	Abnormal cardiac septum morphology	8788	DLK1	ORPHA:254534
HP:0001671	Abnormal cardiac septum morphology	8788	DLK1	ORPHA:96334
HP:0001671	Abnormal cardiac septum morphology	55384	MEG3	ORPHA:254534
HP:0001671	Abnormal cardiac septum morphology	55384	MEG3	ORPHA:96334
HP:0001671	Abnormal cardiac septum morphology	123606	NIPA1	ORPHA:261183
HP:0001671	Abnormal cardiac septum morphology	7283	TUBG1	ORPHA:261183
HP:0001671	Abnormal cardiac septum morphology	81614	NIPA2	ORPHA:261183
HP:0001671	Abnormal cardiac septum morphology	23314	SATB2	ORPHA:251028
HP:0001671	Abnormal cardiac septum morphology	57122	NUP107	OMIM:618348
HP:0001671	Abnormal cardiac septum morphology	57122	NUP107	OMIM:616730
HP:0001671	Abnormal cardiac septum morphology	90459	ERI1	OMIM:620663
HP:0001671	Abnormal cardiac septum morphology	55315	SLC29A3	OMIM:602782
HP:0001671	Abnormal cardiac septum morphology	55315	SLC29A3	ORPHA:1782
HP:0001671	Abnormal cardiac septum morphology	7490	WT1	ORPHA:3097
HP:0001671	Abnormal cardiac septum morphology	7490	WT1	OMIM:608978
HP:0001671	Abnormal cardiac septum morphology	1387	CREBBP	ORPHA:353281
HP:0001671	Abnormal cardiac septum morphology	1387	CREBBP	OMIM:180849
HP:0001671	Abnormal cardiac septum morphology	1387	CREBBP	ORPHA:353277
HP:0001671	Abnormal cardiac septum morphology	23395	LARS2	OMIM:617021
HP:0001671	Abnormal cardiac septum morphology	6651	SON	OMIM:617140
HP:0001671	Abnormal cardiac septum morphology	8312	AXIN1	OMIM:620558
HP:0001671	Abnormal cardiac septum morphology	2033	EP300	ORPHA:353284
HP:0001671	Abnormal cardiac septum morphology	2033	EP300	OMIM:180849
HP:0001671	Abnormal cardiac septum morphology	4041	LRP5	OMIM:259770
HP:0001671	Abnormal cardiac septum morphology	9126	SMC3	OMIM:610759
HP:0001671	Abnormal cardiac septum morphology	9126	SMC3	ORPHA:199
HP:0001671	Abnormal cardiac septum morphology	79068	FTO	OMIM:612938
HP:0001671	Abnormal cardiac septum morphology	8626	TP63	OMIM:106260
HP:0001671	Abnormal cardiac septum morphology	4784	NFIX	OMIM:602535
HP:0001671	Abnormal cardiac septum morphology	4784	NFIX	ORPHA:447980
HP:0001671	Abnormal cardiac septum morphology	57551	TAOK1	OMIM:619575
HP:0001671	Abnormal cardiac septum morphology	8260	NAA10	OMIM:300855
HP:0001671	Abnormal cardiac septum morphology	8260	NAA10	ORPHA:276432
HP:0001671	Abnormal cardiac septum morphology	10082	GPC6	OMIM:258315
HP:0001671	Abnormal cardiac septum morphology	1108	CHD4	OMIM:617159
HP:0001671	Abnormal cardiac septum morphology	23389	MED13L	ORPHA:369891
HP:0001671	Abnormal cardiac septum morphology	1312	COMT	ORPHA:567
HP:0001671	Abnormal cardiac septum morphology	221037	JMJD1C	ORPHA:567
HP:0001671	Abnormal cardiac septum morphology	2812	GP1BB	ORPHA:567
HP:0001671	Abnormal cardiac septum morphology	6239	RREB1	ORPHA:567
HP:0001671	Abnormal cardiac septum morphology	7290	HIRA	ORPHA:567
HP:0001671	Abnormal cardiac septum morphology	9632	SEC24C	ORPHA:567
HP:0001671	Abnormal cardiac septum morphology	7353	UFD1	ORPHA:567
HP:0001671	Abnormal cardiac septum morphology	421	ARVCF	ORPHA:567
HP:0001671	Abnormal cardiac septum morphology	3265	HRAS	ORPHA:3071
HP:0001671	Abnormal cardiac septum morphology	3265	HRAS	OMIM:218040
HP:0001671	Abnormal cardiac septum morphology	26276	VPS33B	OMIM:208085
HP:0001671	Abnormal cardiac septum morphology	10524	KAT5	OMIM:619103
HP:0001671	Abnormal cardiac septum morphology	372	ARCN1	OMIM:617164
HP:0001671	Abnormal cardiac septum morphology	1822	ATN1	OMIM:618494
HP:0001671	Abnormal cardiac septum morphology	6304	SATB1	OMIM:619229
HP:0001671	Abnormal cardiac septum morphology	6811	STX5	OMIM:620454
HP:0001671	Abnormal cardiac septum morphology	4990	SIX6	OMIM:206900
HP:0001671	Abnormal cardiac septum morphology	6657	SOX2	OMIM:206900
HP:0001671	Abnormal cardiac septum morphology	6657	SOX2	ORPHA:77298
HP:0001671	Abnormal cardiac septum morphology	8883	NAE1	OMIM:620210
HP:0001671	Abnormal cardiac septum morphology	9343	EFTUD2	OMIM:610536
HP:0001671	Abnormal cardiac septum morphology	64864	RFX7	OMIM:620330
HP:0001671	Abnormal cardiac septum morphology	164781	DAW1	OMIM:620570
HP:0001671	Abnormal cardiac septum morphology	57003	CCDC47	OMIM:618268
HP:0001671	Abnormal cardiac septum morphology	5977	DPF2	OMIM:618027
HP:0001671	Abnormal cardiac septum morphology	5977	DPF2	ORPHA:1465
HP:0001671	Abnormal cardiac septum morphology	57061	HYMAI	ORPHA:96191
HP:0001671	Abnormal cardiac septum morphology	5325	PLAGL1	ORPHA:96191
HP:0001671	Abnormal cardiac septum morphology	10526	IPO8	OMIM:619472
HP:0001671	Abnormal cardiac septum morphology	348180	CTU2	OMIM:618142
HP:0001671	Abnormal cardiac septum morphology	6711	SPTBN1	OMIM:619475
HP:0001671	Abnormal cardiac septum morphology	26005	C2CD3	ORPHA:434179
HP:0001671	Abnormal cardiac septum morphology	26005	C2CD3	OMIM:615948
HP:0001671	Abnormal cardiac septum morphology	57514	ARHGAP31	OMIM:100300
HP:0001671	Abnormal cardiac septum morphology	10283	CWC27	OMIM:250410
HP:0001671	Abnormal cardiac septum morphology	10283	CWC27	ORPHA:166035
HP:0001671	Abnormal cardiac septum morphology	5290	PIK3CA	OMIM:602501
HP:0001671	Abnormal cardiac septum morphology	285590	SH3PXD2B	OMIM:249420
HP:0001671	Abnormal cardiac septum morphology	374879	ZNF699	OMIM:619488
HP:0001671	Abnormal cardiac septum morphology	4841	NONO	OMIM:300967
HP:0001671	Abnormal cardiac septum morphology	4841	NONO	ORPHA:466791
HP:0001671	Abnormal cardiac septum morphology	51715	RAB23	OMIM:201000
HP:0001671	Abnormal cardiac septum morphology	29123	ANKRD11	ORPHA:261250
HP:0001671	Abnormal cardiac septum morphology	118924	FRA10AC1	OMIM:620113
HP:0001671	Abnormal cardiac septum morphology	4222	MEOX1	OMIM:214300
HP:0001671	Abnormal cardiac septum morphology	4222	MEOX1	ORPHA:2345
HP:0001671	Abnormal cardiac septum morphology	407975	MIR17HG	ORPHA:391646
HP:0001671	Abnormal cardiac septum morphology	126792	B3GALT6	OMIM:271640
HP:0001671	Abnormal cardiac septum morphology	745	MYRF	OMIM:618280
HP:0001671	Abnormal cardiac septum morphology	10084	PQBP1	OMIM:309500
HP:0001671	Abnormal cardiac septum morphology	4256	MGP	OMIM:245150
HP:0001671	Abnormal cardiac septum morphology	4256	MGP	ORPHA:85202
HP:0001671	Abnormal cardiac septum morphology	5528	PPP2R5D	ORPHA:457279
HP:0001671	Abnormal cardiac septum morphology	84231	TRAF7	OMIM:618164
HP:0001671	Abnormal cardiac septum morphology	9487	PIGL	OMIM:280000
HP:0001671	Abnormal cardiac septum morphology	9487	PIGL	ORPHA:3474
HP:0001671	Abnormal cardiac septum morphology	5236	PGM1	OMIM:614921
HP:0001671	Abnormal cardiac septum morphology	5297	PI4KA	ORPHA:436252
HP:0001671	Abnormal cardiac septum morphology	57217	TTC7A	ORPHA:436252
HP:0001671	Abnormal cardiac septum morphology	57217	TTC7A	OMIM:243150
HP:0001671	Abnormal cardiac septum morphology	3643	INSR	ORPHA:769
HP:0001671	Abnormal cardiac septum morphology	55181	SMG8	OMIM:619268
HP:0001671	Abnormal cardiac septum morphology	9652	SKIC3	ORPHA:84064
HP:0001671	Abnormal cardiac septum morphology	9652	SKIC3	OMIM:222470
HP:0001671	Abnormal cardiac septum morphology	6499	SKIC2	ORPHA:84064
HP:0001671	Abnormal cardiac septum morphology	26123	TCTN3	OMIM:614815
HP:0001671	Abnormal cardiac septum morphology	3480	IGF1R	OMIM:270450
HP:0001671	Abnormal cardiac septum morphology	10262	SF3B4	OMIM:154400
HP:0001671	Abnormal cardiac septum morphology	23241	PACS2	OMIM:618067
HP:0001671	Abnormal cardiac septum morphology	26128	KIFBP	OMIM:609460
HP:0001671	Abnormal cardiac septum morphology	83700	JAM3	OMIM:613730
HP:0001671	Abnormal cardiac septum morphology	123263	MTFMT	OMIM:614947
HP:0001671	Abnormal cardiac septum morphology	8854	ALDH1A2	OMIM:620025
HP:0001671	Abnormal cardiac septum morphology	10992	SF3B2	OMIM:164210
HP:0001671	Abnormal cardiac septum morphology	8496	PPFIBP1	OMIM:620024
HP:0001671	Abnormal cardiac septum morphology	9839	ZEB2	OMIM:235730
HP:0001671	Abnormal cardiac septum morphology	9839	ZEB2	ORPHA:261552
HP:0001671	Abnormal cardiac septum morphology	64324	NSD1	ORPHA:821
HP:0001671	Abnormal cardiac septum morphology	64324	NSD1	OMIM:117550
HP:0001671	Abnormal cardiac septum morphology	10297	APC2	ORPHA:821
HP:0001671	Abnormal cardiac septum morphology	4281	MID1	OMIM:300000
HP:0001671	Abnormal cardiac septum morphology	4281	MID1	ORPHA:2745
HP:0001671	Abnormal cardiac septum morphology	80232	WDR26	ORPHA:513456
HP:0001671	Abnormal cardiac septum morphology	80232	WDR26	OMIM:617616
HP:0001671	Abnormal cardiac septum morphology	613	BCR	ORPHA:261330
HP:0001671	Abnormal cardiac septum morphology	1399	CRKL	ORPHA:261330
HP:0001671	Abnormal cardiac septum morphology	5594	MAPK1	ORPHA:261330
HP:0001671	Abnormal cardiac septum morphology	89910	UBE3B	OMIM:244450
HP:0001671	Abnormal cardiac septum morphology	55249	YY1AP1	ORPHA:79094
HP:0001671	Abnormal cardiac septum morphology	10225	CD96	OMIM:211750
HP:0001671	Abnormal cardiac septum morphology	7175	TPR	OMIM:620393
HP:0001671	Abnormal cardiac septum morphology	57492	ARID1B	OMIM:135900
HP:0001671	Abnormal cardiac septum morphology	57492	ARID1B	ORPHA:1465
HP:0001671	Abnormal cardiac septum morphology	5119	CHMP1A	OMIM:614961
HP:0001671	Abnormal cardiac septum morphology	1889	ECE1	OMIM:613870
HP:0001671	Abnormal cardiac septum morphology	1801	DPH1	OMIM:616901
HP:0001671	Abnormal cardiac septum morphology	8772	FADD	OMIM:613759
HP:0001671	Abnormal cardiac septum morphology	8772	FADD	ORPHA:306550
HP:0001671	Abnormal cardiac septum morphology	6597	SMARCA4	OMIM:614609
HP:0001671	Abnormal cardiac septum morphology	6597	SMARCA4	ORPHA:1465
HP:0001671	Abnormal cardiac septum morphology	55697	VAC14	ORPHA:3472
HP:0001671	Abnormal cardiac septum morphology	6885	MAP3K7	OMIM:157800
HP:0001671	Abnormal cardiac septum morphology	55148	UBR7	OMIM:619189
HP:0001671	Abnormal cardiac septum morphology	63894	VIPAS39	OMIM:613404
HP:0001671	Abnormal cardiac septum morphology	4036	LRP2	ORPHA:2143
HP:0001671	Abnormal cardiac septum morphology	4036	LRP2	OMIM:222448
HP:0001671	Abnormal cardiac septum morphology	53834	FGFRL1	OMIM:194190
HP:0001671	Abnormal cardiac septum morphology	26227	PHGDH	OMIM:256520
HP:0001671	Abnormal cardiac septum morphology	23118	TAB2	OMIM:614980
HP:0001671	Abnormal cardiac septum morphology	4519	MT-CYB	ORPHA:137675
HP:0001671	Abnormal cardiac septum morphology	5828	PEX2	OMIM:614866
HP:0001671	Abnormal cardiac septum morphology	5828	PEX2	ORPHA:912
HP:0001671	Abnormal cardiac septum morphology	55719	SLF2	OMIM:620184
HP:0001671	Abnormal cardiac septum morphology	6558	SLC12A2	OMIM:619083
HP:0001671	Abnormal cardiac septum morphology	10236	HNRNPR	OMIM:620073
HP:0001671	Abnormal cardiac septum morphology	2200	FBN1	OMIM:608328
HP:0001671	Abnormal cardiac septum morphology	2200	FBN1	ORPHA:3449
HP:0001671	Abnormal cardiac septum morphology	6628	SNRPB	ORPHA:1393
HP:0001671	Abnormal cardiac septum morphology	6628	SNRPB	OMIM:117650
HP:0001671	Abnormal cardiac septum morphology	182	JAG1	OMIM:118450
HP:0001671	Abnormal cardiac septum morphology	182	JAG1	OMIM:617992
HP:0001671	Abnormal cardiac septum morphology	9409	PEX16	OMIM:614876
HP:0001671	Abnormal cardiac septum morphology	9409	PEX16	ORPHA:912
HP:0001671	Abnormal cardiac septum morphology	51244	CCDC174	OMIM:616816
HP:0001671	Abnormal cardiac septum morphology	2065	ERBB3	OMIM:607598
HP:0001671	Abnormal cardiac septum morphology	51085	MLXIPL	OMIM:194050
HP:0001671	Abnormal cardiac septum morphology	51322	WAC	ORPHA:284169
HP:0001671	Abnormal cardiac septum morphology	10324	KLHL41	OMIM:615731
HP:0001671	Abnormal cardiac septum morphology	170691	ADAMTS17	ORPHA:3449
HP:0001671	Abnormal cardiac septum morphology	4053	LTBP2	ORPHA:3449
HP:0001671	Abnormal cardiac septum morphology	80184	CEP290	OMIM:611134
HP:0001671	Abnormal cardiac septum morphology	140628	GATA5	OMIM:617912
HP:0001671	Abnormal cardiac septum morphology	8195	MKKS	ORPHA:2473
HP:0001671	Abnormal cardiac septum morphology	147372	CCBE1	OMIM:235510
HP:0001671	Abnormal cardiac septum morphology	4851	NOTCH1	OMIM:109730
HP:0001671	Abnormal cardiac septum morphology	157570	ESCO2	OMIM:268300
HP:0001671	Abnormal cardiac septum morphology	2317	FLNB	OMIM:150250
HP:0001671	Abnormal cardiac septum morphology	79228	THOC6	OMIM:613680
HP:0001671	Abnormal cardiac septum morphology	2303	FOXC2	OMIM:153400
HP:0001671	Abnormal cardiac septum morphology	667	DST	OMIM:614653
HP:0001671	Abnormal cardiac septum morphology	9573	GDF3	ORPHA:2345
HP:0001671	Abnormal cardiac septum morphology	392255	GDF6	ORPHA:2345
HP:0001671	Abnormal cardiac septum morphology	7319	UBE2A	ORPHA:163956
HP:0001671	Abnormal cardiac septum morphology	10664	CTCF	OMIM:615502
HP:0001671	Abnormal cardiac septum morphology	55112	DYNC2I1	OMIM:615503
HP:0001671	Abnormal cardiac septum morphology	63895	PIEZO2	ORPHA:2461
HP:0001671	Abnormal cardiac septum morphology	55670	PEX26	ORPHA:912
HP:0001671	Abnormal cardiac septum morphology	5824	PEX19	ORPHA:912
HP:0001671	Abnormal cardiac septum morphology	8504	PEX3	ORPHA:912
HP:0001671	Abnormal cardiac septum morphology	8799	PEX11B	ORPHA:912
HP:0001671	Abnormal cardiac septum morphology	5190	PEX6	ORPHA:912
HP:0001671	Abnormal cardiac septum morphology	5830	PEX5	ORPHA:912
HP:0001671	Abnormal cardiac septum morphology	5193	PEX12	ORPHA:912
HP:0001671	Abnormal cardiac septum morphology	5194	PEX13	ORPHA:912
HP:0001671	Abnormal cardiac septum morphology	5195	PEX14	ORPHA:912
HP:0001671	Abnormal cardiac septum morphology	5192	PEX10	ORPHA:912
HP:0001671	Abnormal cardiac septum morphology	6888	TALDO1	OMIM:606003
HP:0001671	Abnormal cardiac septum morphology	10735	STAG2	OMIM:301043
HP:0001671	Abnormal cardiac septum morphology	8243	SMC1A	OMIM:301044
HP:0001671	Abnormal cardiac septum morphology	8243	SMC1A	ORPHA:199
HP:0001671	Abnormal cardiac septum morphology	100151683	RNU4ATAC	OMIM:210710
HP:0001671	Abnormal cardiac septum morphology	100151683	RNU4ATAC	OMIM:616651
HP:0001671	Abnormal cardiac septum morphology	5648	MASP1	OMIM:257920
HP:0001671	Abnormal cardiac septum morphology	26160	IFT172	OMIM:615630
HP:0001671	Abnormal cardiac septum morphology	1788	DNMT3A	OMIM:615879
HP:0001671	Abnormal cardiac septum morphology	65062	TMEM237	OMIM:614424
HP:0001671	Abnormal cardiac septum morphology	85358	SHANK3	OMIM:606232
HP:0001671	Abnormal cardiac septum morphology	546	ATRX	OMIM:301040
HP:0001671	Abnormal cardiac septum morphology	57167	SALL4	OMIM:607323
HP:0001671	Abnormal cardiac septum morphology	55593	OTUD5	OMIM:301056
HP:0001671	Abnormal cardiac septum morphology	1837	DTNA	OMIM:604169
HP:0001671	Abnormal cardiac septum morphology	57465	TBC1D24	OMIM:220500
HP:0001671	Abnormal cardiac septum morphology	4854	NOTCH3	OMIM:130720
HP:0001671	Abnormal cardiac septum morphology	4854	NOTCH3	ORPHA:2789
HP:0001671	Abnormal cardiac septum morphology	83479	DDX59	OMIM:174300
HP:0001671	Abnormal cardiac septum morphology	10560	SLC19A2	ORPHA:49827
HP:0001671	Abnormal cardiac septum morphology	10560	SLC19A2	OMIM:249270
HP:0001671	Abnormal cardiac septum morphology	5915	RARB	OMIM:615524
HP:0001671	Abnormal cardiac septum morphology	5053	PAH	ORPHA:2209
HP:0001671	Abnormal cardiac septum morphology	6598	SMARCB1	ORPHA:1465
HP:0001671	Abnormal cardiac septum morphology	8289	ARID1A	ORPHA:1465
HP:0001671	Abnormal cardiac septum morphology	6601	SMARCC2	ORPHA:1465
HP:0001671	Abnormal cardiac septum morphology	6602	SMARCD1	ORPHA:1465
HP:0001671	Abnormal cardiac septum morphology	196528	ARID2	ORPHA:1465
HP:0001671	Abnormal cardiac septum morphology	6605	SMARCE1	ORPHA:1465
HP:0001671	Abnormal cardiac septum morphology	6664	SOX11	ORPHA:1465
HP:0001671	Abnormal cardiac septum morphology	5160	PDHA1	ORPHA:79243
HP:0001671	Abnormal cardiac septum morphology	6606	SMN1	OMIM:253300
HP:0001671	Abnormal cardiac septum morphology	3209	HOXA13	ORPHA:2438
HP:0001671	Abnormal cardiac septum morphology	5422	POLA1	OMIM:301030
HP:0001671	Abnormal cardiac septum morphology	79576	NKAP	OMIM:301039
HP:0001671	Abnormal cardiac septum morphology	25	ABL1	OMIM:617602
HP:0001671	Abnormal cardiac septum morphology	57511	COG6	OMIM:614576
HP:0001671	Abnormal cardiac septum morphology	2260	FGFR1	OMIM:613001
HP:0001671	Abnormal cardiac septum morphology	2313	FLI1	ORPHA:2308
HP:0001671	Abnormal cardiac septum morphology	7074	TIAM1	OMIM:619908
HP:0001671	Abnormal cardiac septum morphology	59336	PRDM13	OMIM:619909
HP:0001671	Abnormal cardiac septum morphology	6878	TAF6	ORPHA:199
HP:0001671	Abnormal cardiac septum morphology	55869	HDAC8	ORPHA:199
HP:0001671	Abnormal cardiac septum morphology	5885	RAD21	ORPHA:199
HP:0001671	Abnormal cardiac septum morphology	157680	VPS13B	ORPHA:193
HP:0001671	Abnormal cardiac septum morphology	10367	MICU1	OMIM:615673
HP:0001671	Abnormal cardiac septum morphology	3845	KRAS	OMIM:609942
HP:0001671	Abnormal cardiac septum morphology	55617	TASP1	OMIM:618950
HP:0001671	Abnormal cardiac septum morphology	1857	DVL3	OMIM:616894
HP:0001671	Abnormal cardiac septum morphology	10293	TRAIP	OMIM:616777
HP:0001671	Abnormal cardiac septum morphology	9702	CEP57	OMIM:614114
HP:0001671	Abnormal cardiac septum morphology	202018	TAPT1	OMIM:616897
HP:0001671	Abnormal cardiac septum morphology	5500	PPP1CB	OMIM:617506
HP:0001671	Abnormal cardiac septum morphology	93649	MYOCD	OMIM:618719
HP:0001671	Abnormal cardiac septum morphology	139285	AMER1	OMIM:300373
HP:0001671	Abnormal cardiac septum morphology	5879	RAC1	OMIM:617751
HP:0001671	Abnormal cardiac septum morphology	5879	RAC1	ORPHA:500159
HP:0001671	Abnormal cardiac septum morphology	10274	STAG1	OMIM:617635
HP:0001671	Abnormal cardiac septum morphology	51780	KDM3B	OMIM:618846
HP:0001671	Abnormal cardiac septum morphology	1663	DDX11	OMIM:613398
HP:0001671	Abnormal cardiac septum morphology	10312	TCIRG1	ORPHA:1782
HP:0001671	Abnormal cardiac septum morphology	8792	TNFRSF11A	ORPHA:1782
HP:0001671	Abnormal cardiac septum morphology	5718	PSMD12	OMIM:617516
HP:0001671	Abnormal cardiac septum morphology	9439	MED23	OMIM:614249
HP:0001671	Abnormal cardiac septum morphology	64131	XYLT1	ORPHA:1425
HP:0001671	Abnormal cardiac septum morphology	124583	CANT1	ORPHA:1425
HP:0001671	Abnormal cardiac septum morphology	37	ACADVL	ORPHA:26793
HP:0001671	Abnormal cardiac septum morphology	7043	TGFB3	OMIM:615582
HP:0001671	Abnormal cardiac septum morphology	7543	ZFX	OMIM:301118
HP:0001671	Abnormal cardiac septum morphology	523	ATP6V1A	OMIM:617403
HP:0001671	Abnormal cardiac septum morphology	7372	UMPS	OMIM:258900
HP:0001671	Abnormal cardiac septum morphology	84148	KAT8	OMIM:618974
HP:0001671	Abnormal cardiac septum morphology	6655	SOS2	OMIM:616559
HP:0001671	Abnormal cardiac septum morphology	58499	ZNF462	OMIM:618619
HP:0001671	Abnormal cardiac septum morphology	26235	FBXL4	OMIM:615471
HP:0001671	Abnormal cardiac septum morphology	23334	SZT2	OMIM:615476
HP:0001671	Abnormal cardiac septum morphology	23498	HAAO	OMIM:617660
HP:0001671	Abnormal cardiac septum morphology	3020	H3-3A	OMIM:619720
HP:0001671	Abnormal cardiac septum morphology	3021	H3-3B	OMIM:619721
HP:0001671	Abnormal cardiac septum morphology	2050	EPHB4	OMIM:617300
HP:0001671	Abnormal cardiac septum morphology	70	ACTC1	OMIM:612098
HP:0001671	Abnormal cardiac septum morphology	65082	VPS33A	OMIM:617303
HP:0001671	Abnormal cardiac septum morphology	65082	VPS33A	ORPHA:505248
HP:0001671	Abnormal cardiac septum morphology	4149	MAX	OMIM:620712
HP:0001671	Abnormal cardiac septum morphology	28960	DCPS	OMIM:616459
HP:0001671	Abnormal cardiac septum morphology	9200	HACD1	OMIM:619967
HP:0001671	Abnormal cardiac septum morphology	57231	SNX14	ORPHA:397709
HP:0001671	Abnormal cardiac septum morphology	2261	FGFR3	ORPHA:1860
HP:0001671	Abnormal cardiac septum morphology	2261	FGFR3	ORPHA:93274
HP:0001671	Abnormal cardiac septum morphology	55109	AGGF1	ORPHA:90308
HP:0001671	Abnormal cardiac septum morphology	7092	TLL1	OMIM:613087
HP:0001671	Abnormal cardiac septum morphology	8550	MAPKAPK5	OMIM:619869
HP:0001671	Abnormal cardiac septum morphology	26040	SETBP1	OMIM:269150
HP:0001671	Abnormal cardiac septum morphology	2296	FOXC1	OMIM:602482
HP:0001671	Abnormal cardiac septum morphology	8241	RBM10	OMIM:311900
HP:0001671	Abnormal cardiac septum morphology	8241	RBM10	ORPHA:2886
HP:0001671	Abnormal cardiac septum morphology	1182	CLCN3	OMIM:619512
HP:0001671	Abnormal cardiac septum morphology	23126	POGZ	OMIM:616364
HP:0001671	Abnormal cardiac septum morphology	8558	CDK10	OMIM:617694
HP:0001671	Abnormal cardiac septum morphology	286	ANK1	ORPHA:251066
HP:0001671	Abnormal cardiac septum morphology	93986	FOXP2	ORPHA:251061
HP:0001671	Abnormal cardiac septum morphology	7385	UQCRC2	OMIM:615160
HP:0001671	Abnormal cardiac septum morphology	10991	SLC38A3	OMIM:619881
HP:0001671	Abnormal cardiac septum morphology	7841	MOGS	ORPHA:79330
HP:0001671	Abnormal cardiac septum morphology	51163	DBR1	OMIM:620510
HP:0001671	Abnormal cardiac septum morphology	57724	EPG5	OMIM:242840
HP:0001671	Abnormal cardiac septum morphology	1107	CHD3	OMIM:618205
HP:0001671	Abnormal cardiac septum morphology	3756	KCNH1	OMIM:611816
HP:0001671	Abnormal cardiac septum morphology	25970	SH2B1	ORPHA:261197
HP:0001671	Abnormal cardiac septum morphology	7046	TGFBR1	OMIM:609192
HP:0001671	Abnormal cardiac septum morphology	1802	DPH2	ORPHA:459061
HP:0001671	Abnormal cardiac septum morphology	2879	GPX4	OMIM:250220
HP:0001671	Abnormal cardiac septum morphology	6909	TBX2	OMIM:618223
HP:0001671	Abnormal cardiac septum morphology	6477	SIAH1	OMIM:619314
HP:0001671	Abnormal cardiac septum morphology	10765	KDM5B	OMIM:618109
HP:0001671	Abnormal cardiac septum morphology	92335	STRADA	ORPHA:500533
HP:0001671	Abnormal cardiac septum morphology	92335	STRADA	OMIM:611087
HP:0001671	Abnormal cardiac septum morphology	253738	EBF3	ORPHA:96148
HP:0001671	Abnormal cardiac septum morphology	5515	PPP2CA	OMIM:618354
HP:0001671	Abnormal cardiac septum morphology	650	BMP2	ORPHA:261295
HP:0001671	Abnormal cardiac septum morphology	5649	RELN	ORPHA:89844
HP:0001671	Abnormal cardiac septum morphology	10300	KATNB1	ORPHA:89844
HP:0001671	Abnormal cardiac septum morphology	54820	NDE1	ORPHA:89844
HP:0001671	Abnormal cardiac septum morphology	1363	CPE	OMIM:619326
HP:0001671	Abnormal cardiac septum morphology	51114	ZDHHC9	ORPHA:776
HP:0001671	Abnormal cardiac septum morphology	65109	UPF3B	ORPHA:776
HP:0001671	Abnormal cardiac septum morphology	5077	PAX3	ORPHA:896
HP:0001671	Abnormal cardiac septum morphology	2530	FUT8	OMIM:618005
HP:0001671	Abnormal cardiac septum morphology	166378	AFG2A	ORPHA:457351
HP:0001671	Abnormal cardiac septum morphology	54551	MAGEL2	ORPHA:398069
HP:0001671	Abnormal cardiac septum morphology	201163	FLCN	OMIM:610883
HP:0001671	Abnormal cardiac septum morphology	400569	MED11	OMIM:620327
HP:0001671	Abnormal cardiac septum morphology	7703	PCGF2	OMIM:618371
HP:0001671	Abnormal cardiac septum morphology	27031	NPHP3	OMIM:267010
HP:0001671	Abnormal cardiac septum morphology	27031	NPHP3	OMIM:208540
HP:0001671	Abnormal cardiac septum morphology	22808	MRAS	OMIM:618499
HP:0001671	Abnormal cardiac septum morphology	22808	MRAS	ORPHA:648
HP:0001671	Abnormal cardiac septum morphology	5277	PIGA	OMIM:300868
HP:0001671	Abnormal cardiac septum morphology	3188	HNRNPH2	OMIM:300986
HP:0001671	Abnormal cardiac septum morphology	54538	ROBO4	OMIM:618496
HP:0001671	Abnormal cardiac septum morphology	55186	SLC25A36	OMIM:620211
HP:0001671	Abnormal cardiac septum morphology	5281	PIGF	OMIM:619356
HP:0001671	Abnormal cardiac septum morphology	1277	COL1A1	OMIM:619115
HP:0001671	Abnormal cardiac septum morphology	51604	PIGT	ORPHA:369837
HP:0001671	Abnormal cardiac septum morphology	8452	CUL3	OMIM:619239
HP:0001671	Abnormal cardiac septum morphology	2218	FKTN	OMIM:253800
HP:0001671	Abnormal cardiac septum morphology	113189	CHST14	OMIM:601776
HP:0001671	Abnormal cardiac septum morphology	51360	MBTPS2	OMIM:308205
HP:0001671	Abnormal cardiac septum morphology	8239	USP9X	OMIM:300968
HP:0001671	Abnormal cardiac septum morphology	8239	USP9X	ORPHA:480880
HP:0001671	Abnormal cardiac septum morphology	55252	ASXL2	OMIM:617190
HP:0001671	Abnormal cardiac septum morphology	84905	ZNF341	OMIM:618282
HP:0001671	Abnormal cardiac septum morphology	23387	SIK3	OMIM:618162
HP:0001671	Abnormal cardiac septum morphology	7716	VEZF1	OMIM:620247
HP:0001671	Abnormal cardiac septum morphology	5557	PRIM1	OMIM:620005
HP:0001671	Abnormal cardiac septum morphology	867	CBL	ORPHA:648
HP:0001671	Abnormal cardiac septum morphology	6237	RRAS	ORPHA:648
HP:0001671	Abnormal cardiac septum morphology	200734	SPRED2	ORPHA:648
HP:0001671	Abnormal cardiac septum morphology	4893	NRAS	ORPHA:648
HP:0001671	Abnormal cardiac septum morphology	4893	NRAS	OMIM:613224
HP:0001671	Abnormal cardiac septum morphology	5922	RASA2	ORPHA:648
HP:0001671	Abnormal cardiac septum morphology	59	ACTA2	OMIM:613834
HP:0001671	Abnormal cardiac septum morphology	55901	THSD1	OMIM:620244
HP:0001671	Abnormal cardiac septum morphology	129285	PPP1R21	OMIM:619383
HP:0001671	Abnormal cardiac septum morphology	27161	AGO2	OMIM:619149
HP:0001671	Abnormal cardiac septum morphology	4713	NDUFB7	OMIM:620135
HP:0001671	Abnormal cardiac septum morphology	57539	WDR35	OMIM:613610
HP:0001671	Abnormal cardiac septum morphology	1278	COL1A2	ORPHA:230851
HP:0001671	Abnormal cardiac septum morphology	55788	LMBRD1	OMIM:277380
HP:0001671	Abnormal cardiac septum morphology	10847	SRCAP	ORPHA:2044
HP:0001671	Abnormal cardiac septum morphology	10847	SRCAP	OMIM:136140
HP:0001671	Abnormal cardiac septum morphology	56992	KIF15	ORPHA:261323
HP:0001671	Abnormal cardiac septum morphology	80204	FBXO11	OMIM:618089
HP:0001671	Abnormal cardiac septum morphology	222663	SCUBE3	OMIM:619184
HP:0001671	Abnormal cardiac septum morphology	9184	BUB3	ORPHA:1052
HP:0001671	Abnormal cardiac septum morphology	699	BUB1	ORPHA:1052
HP:0001671	Abnormal cardiac septum morphology	9319	TRIP13	ORPHA:1052
HP:0001671	Abnormal cardiac septum morphology	701	BUB1B	ORPHA:1052
HP:0001671	Abnormal cardiac septum morphology	701	BUB1B	OMIM:257300
HP:0001671	Abnormal cardiac septum morphology	26053	AUTS2	ORPHA:352490
HP:0001671	Abnormal cardiac septum morphology	1954	MEGF8	OMIM:614976
HP:0001671	Abnormal cardiac septum morphology	5728	PTEN	ORPHA:79076
HP:0001671	Abnormal cardiac septum morphology	657	BMPR1A	ORPHA:79076
HP:0001671	Abnormal cardiac septum morphology	5826	ABCD4	OMIM:614857
HP:0001671	Abnormal cardiac septum morphology	10841	FTCD	ORPHA:51208
HP:0001671	Abnormal cardiac septum morphology	84720	PIGO	OMIM:614749
HP:0001671	Abnormal cardiac septum morphology	54499	TMCO1	OMIM:213980
HP:0001671	Abnormal cardiac septum morphology	51611	DPH5	OMIM:620070
HP:0001671	Abnormal cardiac septum morphology	57057	TBX20	OMIM:611363
HP:0001671	Abnormal cardiac septum morphology	3708	ITPR1	OMIM:117360
HP:0001671	Abnormal cardiac septum morphology	3911	LAMA5	OMIM:620076
HP:0001671	Abnormal cardiac septum morphology	10430	TMEM147	OMIM:620075
HP:0001671	Abnormal cardiac septum morphology	7355	SLC35A2	OMIM:300896
HP:0001671	Abnormal cardiac septum morphology	4088	SMAD3	OMIM:613795
HP:0001671	Abnormal cardiac septum morphology	7048	TGFBR2	OMIM:610168
HP:0001671	Abnormal cardiac septum morphology	51574	LARP7	ORPHA:319671
HP:0001671	Abnormal cardiac septum morphology	50945	TBX22	ORPHA:921
HP:0001671	Abnormal cardiac septum morphology	84978	FRMD5	OMIM:620094
HP:0001671	Abnormal cardiac septum morphology	583	BBS2	OMIM:615981
HP:0001671	Abnormal cardiac septum morphology	2703	GJA8	OMIM:612474
HP:0001671	Abnormal cardiac septum morphology	2702	GJA5	OMIM:612474
HP:0001671	Abnormal cardiac septum morphology	9780	PIEZO1	OMIM:616843
HP:0001671	Abnormal cardiac septum morphology	23394	ADNP	OMIM:615873
HP:0001671	Abnormal cardiac septum morphology	2258	FGF13	OMIM:301058
HP:0001671	Abnormal cardiac septum morphology	113179	ADAT3	ORPHA:363528
HP:0001671	Abnormal cardiac septum morphology	3313	HSPA9	OMIM:616854
HP:0001671	Abnormal cardiac septum morphology	10370	CITED2	OMIM:614433
HP:0001671	Abnormal cardiac septum morphology	131118	DNAJC19	OMIM:610198
HP:0001671	Abnormal cardiac septum morphology	5447	POR	OMIM:207410
HP:0001671	Abnormal cardiac septum morphology	4297	KMT2A	OMIM:605130
HP:0001671	Abnormal cardiac septum morphology	27315	PGAP2	OMIM:614207
HP:0001671	Abnormal cardiac septum morphology	54806	AHI1	OMIM:608629
HP:0001671	Abnormal cardiac septum morphology	29957	SLC25A24	OMIM:612289
HP:0001671	Abnormal cardiac septum morphology	6857	SYT1	ORPHA:522077
HP:0001671	Abnormal cardiac septum morphology	4780	NFE2L2	OMIM:617744
HP:0001671	Abnormal cardiac septum morphology	3832	KIF11	ORPHA:2526
HP:0001671	Abnormal cardiac septum morphology	9786	KIAA0586	OMIM:616546
HP:0001671	Abnormal cardiac septum morphology	5116	PCNT	ORPHA:2637
HP:0001671	Abnormal cardiac septum morphology	4000	LMNA	ORPHA:1662
HP:0001671	Abnormal cardiac septum morphology	10269	ZMPSTE24	ORPHA:1662
HP:0001671	Abnormal cardiac septum morphology	10269	ZMPSTE24	OMIM:275210
HP:0001671	Abnormal cardiac septum morphology	8777	MPDZ	OMIM:615219
HP:0001671	Abnormal cardiac septum morphology	9451	EIF2AK3	ORPHA:1667
HP:0001671	Abnormal cardiac septum morphology	26229	B3GAT3	OMIM:245600
HP:0001671	Abnormal cardiac septum morphology	529	ATP6V1E1	OMIM:617402
HP:0001671	Abnormal cardiac septum morphology	9949	AMMECR1	OMIM:300990
HP:0001671	Abnormal cardiac septum morphology	7528	YY1	ORPHA:506358
HP:0001671	Abnormal cardiac septum morphology	7528	YY1	OMIM:617557
HP:0001671	Abnormal cardiac septum morphology	54892	NCAPG2	OMIM:618460
HP:0001671	Abnormal cardiac septum morphology	8425	LTBP4	OMIM:613177
HP:0001671	Abnormal cardiac septum morphology	4091	SMAD6	OMIM:614823
HP:0001671	Abnormal cardiac septum morphology	6091	ROBO1	OMIM:620305
HP:0001671	Abnormal cardiac septum morphology	10102	TSFM	OMIM:610505
HP:0001671	Abnormal cardiac septum morphology	9578	CDC42BPB	OMIM:619841
HP:0001671	Abnormal cardiac septum morphology	29998	BICRA	OMIM:619325
HP:0001671	Abnormal cardiac septum morphology	51506	UFC1	OMIM:618076
HP:0001671	Abnormal cardiac septum morphology	6392	SDHD	OMIM:619167
HP:0001671	Abnormal cardiac septum morphology	23291	FBXW11	OMIM:618914
HP:0001671	Abnormal cardiac septum morphology	79158	GNPTAB	ORPHA:576
HP:0001671	Abnormal cardiac septum morphology	4001	LMNB1	OMIM:619179
HP:0001671	Abnormal cardiac septum morphology	51434	ANAPC7	OMIM:619699
HP:0001671	Abnormal cardiac septum morphology	51008	ASCC1	OMIM:616867
HP:0001671	Abnormal cardiac septum morphology	9325	TRIP4	OMIM:616866
HP:0001671	Abnormal cardiac septum morphology	29940	DSE	OMIM:615539
HP:0001671	Abnormal cardiac septum morphology	23028	KDM1A	ORPHA:477993
HP:0001671	Abnormal cardiac septum morphology	1656	DDX6	OMIM:618653
HP:0001671	Abnormal cardiac septum morphology	1301	COL11A1	OMIM:228520
HP:0001671	Abnormal cardiac septum morphology	8802	SUCLG1	ORPHA:17
HP:0001671	Abnormal cardiac septum morphology	6638	SNRPN	ORPHA:177907
HP:0001671	Abnormal cardiac septum morphology	6772	STAT1	ORPHA:391487
HP:0001671	Abnormal cardiac septum morphology	1763	DNA2	OMIM:615156
HP:0001671	Abnormal cardiac septum morphology	11222	MRPL3	OMIM:614582
HP:0001671	Abnormal cardiac septum morphology	91461	PKDCC	OMIM:618821
HP:0001671	Abnormal cardiac septum morphology	6789	STK4	OMIM:614868
HP:0001671	Abnormal cardiac septum morphology	10681	GNB5	OMIM:617182
HP:0001671	Abnormal cardiac septum morphology	10681	GNB5	ORPHA:542306
HP:0001671	Abnormal cardiac septum morphology	10651	MTX2	OMIM:619127
HP:0001671	Abnormal cardiac septum morphology	9739	SETD1A	OMIM:618832
HP:0001671	Abnormal cardiac septum morphology	7291	TWIST1	OMIM:617746
HP:0001671	Abnormal cardiac septum morphology	100506658	OCLN	OMIM:251290
HP:0001671	Abnormal cardiac septum morphology	79971	WLS	OMIM:619648
HP:0001671	Abnormal cardiac septum morphology	89970	RSPRY1	ORPHA:457395
HP:0001671	Abnormal cardiac septum morphology	57479	PRR12	OMIM:619539
HP:0001671	Abnormal cardiac septum morphology	85459	CEP295	OMIM:620767
HP:0001671	Abnormal cardiac septum morphology	54101	RIPK4	OMIM:263650
HP:0001671	Abnormal cardiac septum morphology	90952	ESAM	OMIM:620371
HP:0001671	Abnormal cardiac septum morphology	3192	HNRNPU	ORPHA:238769
HP:0001671	Abnormal cardiac septum morphology	894	CCND2	ORPHA:83473
HP:0001671	Abnormal cardiac septum morphology	5296	PIK3R2	ORPHA:83473
HP:0001671	Abnormal cardiac septum morphology	10000	AKT3	ORPHA:83473
HP:0001671	Abnormal cardiac septum morphology	64840	PORCN	ORPHA:2092
HP:0001671	Abnormal cardiac septum morphology	23556	PIGN	ORPHA:2059
HP:0001671	Abnormal cardiac septum morphology	25885	POLR1A	ORPHA:1200
HP:0001671	Abnormal cardiac septum morphology	10907	TXNL4A	ORPHA:1200
HP:0001671	Abnormal cardiac septum morphology	4625	MYH7	ORPHA:1880
HP:0001671	Abnormal cardiac septum morphology	6804	STX1A	ORPHA:904
HP:0001671	Abnormal cardiac septum morphology	7461	CLIP2	ORPHA:904
HP:0001671	Abnormal cardiac septum morphology	84277	DNAJC30	ORPHA:904
HP:0001671	Abnormal cardiac septum morphology	8468	FKBP6	ORPHA:904
HP:0001671	Abnormal cardiac septum morphology	5982	RFC2	ORPHA:904
HP:0001671	Abnormal cardiac septum morphology	2969	GTF2I	ORPHA:904
HP:0001671	Abnormal cardiac septum morphology	3984	LIMK1	ORPHA:904
HP:0001671	Abnormal cardiac septum morphology	9569	GTF2IRD1	ORPHA:904
HP:0001671	Abnormal cardiac septum morphology	155382	VPS37D	ORPHA:904
HP:0001671	Abnormal cardiac septum morphology	155368	METTL27	ORPHA:904
HP:0001671	Abnormal cardiac septum morphology	114049	BUD23	ORPHA:904
HP:0001671	Abnormal cardiac septum morphology	7458	EIF4H	ORPHA:904
HP:0001671	Abnormal cardiac septum morphology	84163	GTF2IRD2	ORPHA:904
HP:0001671	Abnormal cardiac septum morphology	26608	TBL2	ORPHA:904
HP:0001671	Abnormal cardiac septum morphology	653361	NCF1	ORPHA:904
HP:0001671	Abnormal cardiac septum morphology	135886	TMEM270	ORPHA:904
HP:0001671	Abnormal cardiac septum morphology	9031	BAZ1B	ORPHA:904
HP:0001671	Abnormal cardiac septum morphology	2006	ELN	ORPHA:904
HP:0001671	Abnormal cardiac septum morphology	145173	B3GLCT	ORPHA:709
HP:0001671	Abnormal cardiac septum morphology	5590	PRKCZ	ORPHA:1606
HP:0001671	Abnormal cardiac septum morphology	2563	GABRD	ORPHA:1606
HP:0001671	Abnormal cardiac septum morphology	23013	SPEN	ORPHA:1606
HP:0001671	Abnormal cardiac septum morphology	8510	MMP23B	ORPHA:1606
HP:0001671	Abnormal cardiac septum morphology	7798	LUZP1	ORPHA:1606
HP:0001671	Abnormal cardiac septum morphology	6497	SKI	ORPHA:1606
HP:0001671	Abnormal cardiac septum morphology	10630	PDPN	ORPHA:1606
HP:0001671	Abnormal cardiac septum morphology	3339	HSPG2	ORPHA:1606
HP:0001671	Abnormal cardiac septum morphology	10277	UBE4B	ORPHA:1606
HP:0001671	Abnormal cardiac septum morphology	8514	KCNAB2	ORPHA:1606
HP:0001671	Abnormal cardiac septum morphology	473	RERE	ORPHA:1606
HP:0001671	Abnormal cardiac septum morphology	63976	PRDM16	ORPHA:1606
HP:0001671	Abnormal cardiac septum morphology	54897	CASZ1	ORPHA:1606
HP:0001671	Abnormal cardiac septum morphology	79813	EHMT1	ORPHA:96147
HP:0001671	Abnormal cardiac septum morphology	7473	WNT3	ORPHA:3301
HP:0001671	Abnormal cardiac septum morphology	340419	RSPO2	ORPHA:3301
HP:0001671	Abnormal cardiac septum morphology	9496	TBX4	ORPHA:3301
HP:0001671	Abnormal cardiac septum morphology	2316	FLNA	ORPHA:99811
HP:0001671	Abnormal cardiac septum morphology	2316	FLNA	ORPHA:2484
HP:0001671	Abnormal cardiac septum morphology	2316	FLNA	ORPHA:90652
HP:0001671	Abnormal cardiac septum morphology	374654	KIF7	OMIM:200990
HP:0001671	Abnormal cardiac septum morphology	1654	DDX3X	ORPHA:3338
HP:0001671	Abnormal cardiac septum morphology	92002	CCNQ	ORPHA:140952
HP:0001671	Abnormal cardiac septum morphology	55784	MCTP2	ORPHA:1596
HP:0001671	Abnormal cardiac septum morphology	8085	KMT2D	ORPHA:2322
HP:0001671	Abnormal cardiac septum morphology	7403	KDM6A	ORPHA:2322
HP:0001671	Abnormal cardiac septum morphology	55690	PACS1	OMIM:615009
HP:0001671	Abnormal cardiac septum morphology	998	CDC42	OMIM:616737
HP:0001671	Abnormal cardiac septum morphology	6299	SALL1	ORPHA:857
HP:0001671	Abnormal cardiac septum morphology	51339	DACT1	ORPHA:857
HP:0001671	Abnormal cardiac septum morphology	55636	CHD7	ORPHA:138
HP:0001671	Abnormal cardiac septum morphology	9723	SEMA3E	ORPHA:138
HP:0001671	Abnormal cardiac septum morphology	1482	NKX2-5	ORPHA:1479
HP:0001671	Abnormal cardiac septum morphology	6023	RMRP	ORPHA:175
HP:0001671	Abnormal cardiac septum morphology	9401	RECQL4	ORPHA:1225
HP:0001671	Abnormal cardiac septum morphology	50814	NSDHL	OMIM:308050
HP:0001671	Abnormal cardiac septum morphology	54880	BCOR	ORPHA:2712
HP:0001671	Abnormal cardiac septum morphology	9939	RBM8A	ORPHA:3320
HP:0001671	Abnormal cardiac septum morphology	672	BRCA1	ORPHA:84
HP:0001671	Abnormal cardiac septum morphology	10459	MAD2L2	ORPHA:84
HP:0001671	Abnormal cardiac septum morphology	7516	XRCC2	ORPHA:84
HP:0001671	Abnormal cardiac septum morphology	29089	UBE2T	ORPHA:84
HP:0001671	Abnormal cardiac septum morphology	675	BRCA2	ORPHA:84
HP:0001671	Abnormal cardiac septum morphology	55120	FANCL	ORPHA:84
HP:0001671	Abnormal cardiac septum morphology	2177	FANCD2	ORPHA:84
HP:0001671	Abnormal cardiac septum morphology	2175	FANCA	ORPHA:84
HP:0001671	Abnormal cardiac septum morphology	2187	FANCB	ORPHA:84
HP:0001671	Abnormal cardiac septum morphology	2176	FANCC	ORPHA:84
HP:0001671	Abnormal cardiac septum morphology	2178	FANCE	ORPHA:84
HP:0001671	Abnormal cardiac septum morphology	2188	FANCF	ORPHA:84
HP:0001671	Abnormal cardiac septum morphology	2189	FANCG	ORPHA:84
HP:0001671	Abnormal cardiac septum morphology	5888	RAD51	ORPHA:84
HP:0001671	Abnormal cardiac septum morphology	5889	RAD51C	ORPHA:84
HP:0001671	Abnormal cardiac septum morphology	55159	RFWD3	ORPHA:84
HP:0001671	Abnormal cardiac septum morphology	83990	BRIP1	ORPHA:84
HP:0001671	Abnormal cardiac septum morphology	57697	FANCM	ORPHA:84
HP:0001671	Abnormal cardiac septum morphology	79728	PALB2	ORPHA:84
HP:0001671	Abnormal cardiac septum morphology	84464	SLX4	ORPHA:84
HP:0001671	Abnormal cardiac septum morphology	2072	ERCC4	ORPHA:84
HP:0001671	Abnormal cardiac septum morphology	55215	FANCI	ORPHA:84
HP:0001671	Abnormal cardiac septum morphology	118856	MMP21	OMIM:616749
HP:0001671	Abnormal cardiac septum morphology	7080	NKX2-1	ORPHA:209905
HP:0001671	Abnormal cardiac septum morphology	54539	NDUFB11	ORPHA:2556
HP:0001671	Abnormal cardiac septum morphology	1349	COX7B	ORPHA:2556
HP:0001671	Abnormal cardiac septum morphology	3052	HCCS	ORPHA:2556
HP:0001671	Abnormal cardiac septum morphology	3239	HOXD13	ORPHA:887
HP:0001671	Abnormal cardiac septum morphology	197131	UBR1	ORPHA:2315
HP:0001671	Abnormal cardiac septum morphology	2626	GATA4	ORPHA:251071
HP:0001671	Abnormal cardiac septum morphology	171023	ASXL1	ORPHA:97297
HP:0001671	Abnormal cardiac septum morphology	10815	CPLX1	ORPHA:280
HP:0001671	Abnormal cardiac septum morphology	54872	PIGG	ORPHA:280
HP:0001671	Abnormal cardiac septum morphology	7469	NELFA	ORPHA:280
HP:0001671	Abnormal cardiac septum morphology	1487	CTBP1	ORPHA:280
HP:0001671	Abnormal cardiac septum morphology	3954	LETM1	ORPHA:280
HP:0001671	Abnormal cardiac septum morphology	7468	NSD2	ORPHA:280
HP:0001671	Abnormal cardiac septum morphology	1760	DMPK	ORPHA:589821
HP:0001671	Abnormal cardiac septum morphology	54903	MKS1	OMIM:249000
HP:0001671	Abnormal cardiac septum morphology	4352	MPL	ORPHA:3319
HP:0001671	Abnormal cardiac septum morphology	7066	THPO	ORPHA:3319
HP:0001671	Abnormal cardiac septum morphology	389827	MYMK	OMIM:254940
HP:0001671	Abnormal cardiac septum morphology	4089	SMAD4	ORPHA:2588
HP:0001671	Abnormal cardiac septum morphology	8318	CDC45	OMIM:617063
HP:0001671	Abnormal cardiac septum morphology	7204	TRIO	ORPHA:476126
HP:0001671	Abnormal cardiac septum morphology	2657	GDF1	OMIM:208530
HP:0001671	Abnormal cardiac septum morphology	2657	GDF1	OMIM:613854
HP:0001671	Abnormal cardiac septum morphology	10265	IRX5	OMIM:611174
HP:0001671	Abnormal cardiac septum morphology	27152	INTU	OMIM:617925
HP:0001671	Abnormal cardiac septum morphology	100128908	CIROP	OMIM:619702
HP:0001671	Abnormal cardiac septum morphology	6899	TBX1	OMIM:217095
HP:0001671	Abnormal cardiac septum morphology	137814	NKX2-6	OMIM:217095
HP:0001671	Abnormal cardiac septum morphology	51057	WDPCP	OMIM:217085
HP:0001671	Abnormal cardiac septum morphology	219844	HYLS1	OMIM:236680
HP:0001671	Abnormal cardiac septum morphology	8294	H4C9	OMIM:619951
HP:0001671	Abnormal cardiac septum morphology	29081	METTL5	OMIM:618665
HP:0001671	Abnormal cardiac septum morphology	132	ADK	OMIM:614300
HP:0001671	Abnormal cardiac septum morphology	5396	PRRX1	OMIM:202650
HP:0001671	Abnormal cardiac septum morphology	490	ATP2B1	OMIM:619910
HP:0001671	Abnormal cardiac septum morphology	8364	H4C3	OMIM:619758
HP:0001671	Abnormal cardiac septum morphology	11128	POLR3A	OMIM:264090
HP:0001671	Abnormal cardiac septum morphology	256297	PTF1A	OMIM:609069
HP:0001671	Abnormal cardiac septum morphology	79759	ZNF668	OMIM:620194
HP:0001671	Abnormal cardiac septum morphology	6472	SHMT2	OMIM:619121
HP:0001671	Abnormal cardiac septum morphology	80055	PGAP1	OMIM:615802
HP:0001671	Abnormal cardiac septum morphology	2314	FLII	OMIM:620635
HP:0001671	Abnormal cardiac septum morphology	471	ATIC	OMIM:608688
HP:0001671	Abnormal cardiac septum morphology	4624	MYH6	OMIM:614089
HP:0001671	Abnormal cardiac septum morphology	11274	USP18	OMIM:617397
HP:0001671	Abnormal cardiac septum morphology	92579	G6PC3	OMIM:612541
HP:0001671	Abnormal cardiac septum morphology	10079	ATP9A	OMIM:620242
HP:0001671	Abnormal cardiac septum morphology	1974	EIF4A2	OMIM:620455
HP:0001671	Abnormal cardiac septum morphology	57538	ALPK3	OMIM:618052
HP:0001671	Abnormal cardiac septum morphology	5605	MAP2K2	OMIM:615280
HP:0001671	Abnormal cardiac septum morphology	4633	MYL2	OMIM:608758
HP:0001671	Abnormal cardiac septum morphology	221496	LEMD2	OMIM:619322
HP:0001671	Abnormal cardiac septum morphology	2992	GYG1	ORPHA:263297
HP:0001671	Abnormal cardiac septum morphology	4607	MYBPC3	OMIM:115197
HP:0001671	Abnormal cardiac septum morphology	2717	GLA	OMIM:301500
HP:0001671	Abnormal cardiac septum morphology	26580	BSCL2	OMIM:269700
HP:0001671	Abnormal cardiac septum morphology	84665	MYPN	OMIM:615248
HP:0001671	Abnormal cardiac septum morphology	8048	CSRP3	OMIM:612124
HP:0001671	Abnormal cardiac septum morphology	7139	TNNT2	OMIM:115195
HP:0001671	Abnormal cardiac septum morphology	23345	SYNE1	OMIM:612998
HP:0001671	Abnormal cardiac septum morphology	2737	GLI3	ORPHA:672
HP:0001671	Abnormal cardiac septum morphology	9361	LONP1	OMIM:600373
HP:0001671	Abnormal cardiac septum morphology	22827	PUF60	ORPHA:508498
HP:0001671	Abnormal cardiac septum morphology	22827	PUF60	ORPHA:508488
HP:0001671	Abnormal cardiac septum morphology	2294	FOXF1	OMIM:265380
HP:0001671	Abnormal cardiac septum morphology	2294	FOXF1	ORPHA:210122
HP:0001671	Abnormal cardiac septum morphology	1770	DNAH9	OMIM:618300
HP:0001671	Abnormal cardiac septum morphology	6910	TBX5	ORPHA:392
HP:0001671	Abnormal cardiac septum morphology	4838	NODAL	OMIM:270100
HP:0001671	Abnormal cardiac septum morphology	5781	PTPN11	ORPHA:500
HP:0001671	Abnormal cardiac septum morphology	673	BRAF	ORPHA:500
HP:0001671	Abnormal cardiac septum morphology	5894	RAF1	ORPHA:500
HP:0001671	Abnormal cardiac septum morphology	11198	SUPT16H	OMIM:619480
HP:0001671	Abnormal cardiac septum morphology	7547	ZIC3	OMIM:314390
HP:0001671	Abnormal cardiac septum morphology	7547	ZIC3	OMIM:306955
HP:0001671	Abnormal cardiac septum morphology	2627	GATA6	OMIM:614474
HP:0001671	Abnormal cardiac septum morphology	90416	CCDC32	OMIM:619123
HP:0001671	Abnormal cardiac septum morphology	1717	DHCR7	ORPHA:818
HP:0001671	Abnormal cardiac septum morphology	55997	CFC1	OMIM:605376
HP:0001671	Abnormal cardiac septum morphology	57020	VPS35L	OMIM:619135
HP:0001671	Abnormal cardiac septum morphology	57020	VPS35L	ORPHA:7
HP:0001671	Abnormal cardiac septum morphology	79989	IFT56	OMIM:619534
HP:0001671	Abnormal cardiac septum morphology	50619	DEF6	OMIM:619573
HP:0001671	Abnormal cardiac septum morphology	83871	RAB34	OMIM:620718
HP:0001671	Abnormal cardiac septum morphology	93	ACVR2B	OMIM:613751
HP:0001671	Abnormal cardiac septum morphology	7026	NR2F2	OMIM:615779
HP:0001671	Abnormal cardiac septum morphology	23476	BRD4	OMIM:620568
HP:0001671	Abnormal cardiac septum morphology	23522	KAT6B	ORPHA:3047
HP:0001671	Abnormal cardiac septum morphology	4750	NEK1	ORPHA:2751
HP:0001671	Abnormal cardiac septum morphology	1000	CDH2	OMIM:618929
HP:0001671	Abnormal cardiac septum morphology	9897	WASHC5	ORPHA:7
HP:0001671	Abnormal cardiac septum morphology	28952	CCDC22	ORPHA:7
HP:0001671	Abnormal cardiac septum morphology	56896	DPYSL5	ORPHA:7
HP:0001671	Abnormal cardiac septum morphology	5566	PRKACA	ORPHA:289
HP:0001671	Abnormal cardiac septum morphology	5566	PRKACA	OMIM:619142
HP:0001671	Abnormal cardiac septum morphology	5567	PRKACB	ORPHA:289
HP:0001671	Abnormal cardiac septum morphology	5567	PRKACB	OMIM:619143
HP:0001671	Abnormal cardiac septum morphology	2735	GLI1	ORPHA:289
HP:0001671	Abnormal cardiac septum morphology	2121	EVC	ORPHA:289
HP:0001671	Abnormal cardiac septum morphology	51626	DYNC2LI1	ORPHA:289
HP:0001671	Abnormal cardiac septum morphology	51626	DYNC2LI1	OMIM:617088
HP:0001671	Abnormal cardiac septum morphology	132884	EVC2	ORPHA:289
HP:0001671	Abnormal cardiac septum morphology	5587	PRKD1	OMIM:617364
HP:0001671	Abnormal cardiac septum morphology	11193	WBP4	OMIM:620852
HP:0001671	Abnormal cardiac septum morphology	8216	LZTR1	OMIM:605275
HP:0001671	Abnormal cardiac septum morphology	25790	CFAP45	OMIM:619608
HP:0001671	Abnormal cardiac septum morphology	11020	IFT27	OMIM:615996
HP:0001671	Abnormal cardiac septum morphology	78987	CRELD1	OMIM:606217
HP:0001671	Abnormal cardiac septum morphology	2653	GCSH	OMIM:620423
HP:0001671	Abnormal cardiac septum morphology	83475	DOHH	OMIM:620066
HP:0001671	Abnormal cardiac septum morphology	168507	PKD1L1	OMIM:617205
HP:0001671	Abnormal cardiac septum morphology	220136	CFAP53	OMIM:614779
HP:0001671	Abnormal cardiac septum morphology	4087	SMAD2	OMIM:619657
HP:0001671	Abnormal cardiac septum morphology	23129	PLXND1	OMIM:620294
HP:0001671	Abnormal cardiac septum morphology	6123	RPL3L	OMIM:619371
HP:0001671	Abnormal cardiac septum morphology	5700	PSMC1	OMIM:620071
HP:0001671	Abnormal cardiac septum morphology	23511	NUP188	OMIM:618804
HP:0001671	Abnormal cardiac septum morphology	51729	WBP11	OMIM:619227
HP:0001671	Abnormal cardiac septum morphology	439	GET3	OMIM:620203
HP:0001671	Abnormal cardiac septum morphology	374969	SVBP	OMIM:618569
HP:0001671	Abnormal cardiac septum morphology	79087	ALG12	ORPHA:79324
HP:0001671	Abnormal cardiac septum morphology	1828	DSG1	OMIM:615508
HP:0001671	Abnormal cardiac septum morphology	3417	IDH1	ORPHA:99646
HP:0001671	Abnormal cardiac septum morphology	2271	FH	OMIM:606812
HP:0001671	Abnormal cardiac septum morphology	91949	COG7	OMIM:608779
HP:0001671	Abnormal cardiac septum morphology	4718	NDUFC2	OMIM:619170
HP:0001671	Abnormal cardiac septum morphology	808	CALM3	OMIM:618782
HP:0001671	Abnormal cardiac septum morphology	79645	CLXN	OMIM:620642
HP:0001671	Abnormal cardiac septum morphology	22872	SEC31A	OMIM:618651
HP:0001671	Abnormal cardiac septum morphology	79053	ALG8	OMIM:608104
HP:0001671	Abnormal cardiac septum morphology	1593	CYP27A1	ORPHA:909
HP:0001671	Abnormal cardiac septum morphology	1855	DVL1	OMIM:616331
HP:0001671	Abnormal cardiac septum morphology	23545	ATP6V0A2	ORPHA:2834
HP:0001671	Abnormal cardiac septum morphology	23545	ATP6V0A2	OMIM:278250
HP:0001671	Abnormal cardiac septum morphology	9382	COG1	ORPHA:263508
HP:0004761	Post-angioplasty coronary artery restenosis	3053	SERPIND1	OMIM:612356
HP:0004762	Hypoplasia of right ventricle	5337	PLD1	OMIM:212093
HP:0004762	Hypoplasia of right ventricle	6910	TBX5	OMIM:142900
HP:0004762	Hypoplasia of right ventricle	2627	GATA6	ORPHA:2255
HP:0004762	Hypoplasia of right ventricle	118856	MMP21	OMIM:616749
HP:0004763	Paroxysmal supraventricular tachycardia	650	BMP2	OMIM:617877
HP:0004763	Paroxysmal supraventricular tachycardia	51086	TNNI3K	OMIM:616117
HP:0004763	Paroxysmal supraventricular tachycardia	10560	SLC19A2	ORPHA:49827
HP:0004763	Paroxysmal supraventricular tachycardia	4000	LMNA	OMIM:613205
HP:0004763	Paroxysmal supraventricular tachycardia	161742	SPRED1	ORPHA:137605
HP:0004764	Myxomatous mitral valve degeneration	2006	ELN	OMIM:194050
HP:0004764	Myxomatous mitral valve degeneration	51085	MLXIPL	OMIM:194050
HP:0004764	Myxomatous mitral valve degeneration	23118	TAB2	OMIM:614980
HP:0002217	Slow-growing hair	147409	DSG4	ORPHA:573
HP:0002217	Slow-growing hair	3892	KRT86	ORPHA:573
HP:0002217	Slow-growing hair	3889	KRT83	ORPHA:573
HP:0002217	Slow-growing hair	3887	KRT81	ORPHA:573
HP:0002217	Slow-growing hair	112802	KRT71	ORPHA:170
HP:0002217	Slow-growing hair	121391	KRT74	ORPHA:170
HP:0002217	Slow-growing hair	121391	KRT74	OMIM:194300
HP:0002217	Slow-growing hair	200879	LIPH	ORPHA:170
HP:0002217	Slow-growing hair	10161	LPAR6	ORPHA:170
HP:0002217	Slow-growing hair	147183	KRT25	ORPHA:170
HP:0002217	Slow-growing hair	7737	RNF113A	OMIM:300953
HP:0002217	Slow-growing hair	673	BRAF	OMIM:115150
HP:0002217	Slow-growing hair	673	BRAF	ORPHA:1340
HP:0002217	Slow-growing hair	5604	MAP2K1	ORPHA:1340
HP:0002217	Slow-growing hair	5605	MAP2K2	ORPHA:1340
HP:0002217	Slow-growing hair	3845	KRAS	ORPHA:1340
HP:0002217	Slow-growing hair	2961	GTF2E2	OMIM:616943
HP:0002217	Slow-growing hair	8626	TP63	OMIM:129400
HP:0002217	Slow-growing hair	8626	TP63	ORPHA:1896
HP:0002217	Slow-growing hair	55764	IFT122	OMIM:218330
HP:0002217	Slow-growing hair	10804	GJB6	OMIM:129500
HP:0002217	Slow-growing hair	2697	GJA1	ORPHA:2710
HP:0002217	Slow-growing hair	2697	GJA1	OMIM:164200
HP:0002217	Slow-growing hair	128178	EDARADD	OMIM:129490
HP:0002217	Slow-growing hair	10913	EDAR	OMIM:129490
HP:0002217	Slow-growing hair	7543	ZFX	OMIM:301118
HP:0002217	Slow-growing hair	6144	RPL21	OMIM:615885
HP:0002217	Slow-growing hair	7227	TRPS1	OMIM:190350
HP:0002217	Slow-growing hair	5500	PPP1CB	OMIM:617506
HP:0002217	Slow-growing hair	1474	CST6	OMIM:618535
HP:0002217	Slow-growing hair	7025	NR2F1	OMIM:615722
HP:0002217	Slow-growing hair	1041	CDSN	ORPHA:90368
HP:0002217	Slow-growing hair	6868	ADAM17	ORPHA:294023
HP:0002217	Slow-growing hair	1956	EGFR	ORPHA:294023
HP:0004768	Sparse anterior scalp hair	64324	NSD1	ORPHA:821
HP:0004768	Sparse anterior scalp hair	10297	APC2	ORPHA:821
HP:0025599	Inferior oblique muscle overaction	2200	FBN1	OMIM:154700
HP:0001513	Obesity	11198	SUPT16H	ORPHA:261229
HP:0001513	Obesity	57680	CHD8	ORPHA:261229
HP:0001513	Obesity	25970	SH2B1	ORPHA:261222
HP:0001513	Obesity	25970	SH2B1	ORPHA:329249
HP:0001513	Obesity	25970	SH2B1	ORPHA:261197
HP:0001513	Obesity	27316	RBMX	OMIM:300238
HP:0001513	Obesity	27316	RBMX	ORPHA:85286
HP:0001513	Obesity	63036	CELA2A	OMIM:618620
HP:0001513	Obesity	5728	PTEN	OMIM:605309
HP:0001513	Obesity	583	BBS2	OMIM:616562
HP:0001513	Obesity	583	BBS2	ORPHA:110
HP:0001513	Obesity	583	BBS2	OMIM:615981
HP:0001513	Obesity	11284	PNKP	ORPHA:459033
HP:0001513	Obesity	11284	PNKP	OMIM:616267
HP:0001513	Obesity	123263	MTFMT	OMIM:614947
HP:0001513	Obesity	1788	DNMT3A	ORPHA:404443
HP:0001513	Obesity	10159	ATP6AP2	ORPHA:93952
HP:0001513	Obesity	23126	POGZ	ORPHA:468678
HP:0001513	Obesity	23126	POGZ	OMIM:616364
HP:0001513	Obesity	9690	UBE3C	OMIM:620270
HP:0001513	Obesity	149775	GNAS-AS1	OMIM:603233
HP:0001513	Obesity	2778	GNAS	OMIM:603233
HP:0001513	Obesity	2778	GNAS	OMIM:612463
HP:0001513	Obesity	2778	GNAS	OMIM:612462
HP:0001513	Obesity	2778	GNAS	ORPHA:79443
HP:0001513	Obesity	2778	GNAS	ORPHA:79444
HP:0001513	Obesity	2778	GNAS	ORPHA:79445
HP:0001513	Obesity	2778	GNAS	OMIM:103580
HP:0001513	Obesity	8675	STX16	OMIM:603233
HP:0001513	Obesity	7552	ZNF711	OMIM:300803
HP:0001513	Obesity	54681	P4HTM	ORPHA:436141
HP:0001513	Obesity	54681	P4HTM	OMIM:618493
HP:0001513	Obesity	2314	FLII	ORPHA:819
HP:0001513	Obesity	23096	IQSEC2	ORPHA:819
HP:0001513	Obesity	23096	IQSEC2	ORPHA:217377
HP:0001513	Obesity	10743	RAI1	ORPHA:819
HP:0001513	Obesity	10522	DEAF1	ORPHA:819
HP:0001513	Obesity	9915	ARNT2	OMIM:615926
HP:0001513	Obesity	9915	ARNT2	ORPHA:3157
HP:0001513	Obesity	10908	PNPLA6	OMIM:275400
HP:0001513	Obesity	10908	PNPLA6	ORPHA:2377
HP:0001513	Obesity	10908	PNPLA6	OMIM:245800
HP:0001513	Obesity	55780	ERMARD	ORPHA:75857
HP:0001513	Obesity	29072	SETD2	OMIM:620155
HP:0001513	Obesity	29072	SETD2	OMIM:616831
HP:0001513	Obesity	6926	TBX3	ORPHA:3138
HP:0001513	Obesity	6926	TBX3	OMIM:181450
HP:0001513	Obesity	1300	COL10A1	ORPHA:174
HP:0001513	Obesity	28958	COA3	OMIM:619058
HP:0001513	Obesity	9739	SETD1A	OMIM:619056
HP:0001513	Obesity	80204	FBXO11	OMIM:618089
HP:0001513	Obesity	9692	PRORP	OMIM:619737
HP:0001513	Obesity	4160	MC4R	OMIM:618406
HP:0001513	Obesity	4160	MC4R	ORPHA:71529
HP:0001513	Obesity	3952	LEP	OMIM:614962
HP:0001513	Obesity	3952	LEP	ORPHA:66628
HP:0001513	Obesity	2770	GNAI1	OMIM:619854
HP:0001513	Obesity	22897	CEP164	OMIM:614845
HP:0001513	Obesity	3953	LEPR	OMIM:614963
HP:0001513	Obesity	3953	LEPR	ORPHA:179494
HP:0001513	Obesity	84100	ARL6	OMIM:209900
HP:0001513	Obesity	84100	ARL6	ORPHA:110
HP:0001513	Obesity	84100	ARL6	OMIM:600151
HP:0001513	Obesity	79140	CCDC28B	OMIM:209900
HP:0001513	Obesity	582	BBS1	OMIM:209900
HP:0001513	Obesity	582	BBS1	ORPHA:110
HP:0001513	Obesity	7840	ALMS1	OMIM:203800
HP:0001513	Obesity	7840	ALMS1	ORPHA:64
HP:0001513	Obesity	1581	CYP7A1	ORPHA:209902
HP:0001513	Obesity	2626	GATA4	ORPHA:251071
HP:0001513	Obesity	23116	TOGARAM1	OMIM:619185
HP:0001513	Obesity	6872	TAF1	ORPHA:480907
HP:0001513	Obesity	57531	HACE1	ORPHA:464282
HP:0001513	Obesity	57531	HACE1	OMIM:616756
HP:0001513	Obesity	6899	TBX1	OMIM:188400
HP:0001513	Obesity	6899	TBX1	ORPHA:567
HP:0001513	Obesity	1656	DDX6	OMIM:618653
HP:0001513	Obesity	80208	SPG11	ORPHA:2822
HP:0001513	Obesity	80208	SPG11	OMIM:604360
HP:0001513	Obesity	79813	EHMT1	OMIM:610253
HP:0001513	Obesity	79813	EHMT1	ORPHA:96147
HP:0001513	Obesity	5144	PDE4D	OMIM:614613
HP:0001513	Obesity	5144	PDE4D	ORPHA:439822
HP:0001513	Obesity	4915	NTRK2	OMIM:613886
HP:0001513	Obesity	1954	MEGF8	OMIM:614976
HP:0001513	Obesity	1954	MEGF8	ORPHA:65759
HP:0001513	Obesity	84984	CEP19	OMIM:615703
HP:0001513	Obesity	84984	CEP19	ORPHA:110
HP:0001513	Obesity	25942	SIN3A	OMIM:613406
HP:0001513	Obesity	25942	SIN3A	ORPHA:94065
HP:0001513	Obesity	54496	PRMT7	ORPHA:464288
HP:0001513	Obesity	54496	PRMT7	OMIM:617157
HP:0001513	Obesity	6197	RPS6KA3	ORPHA:276630
HP:0001513	Obesity	5080	PAX6	OMIM:194072
HP:0001513	Obesity	5080	PAX6	ORPHA:893
HP:0001513	Obesity	7490	WT1	OMIM:194072
HP:0001513	Obesity	7490	WT1	ORPHA:893
HP:0001513	Obesity	1588	CYP19A1	ORPHA:91
HP:0001513	Obesity	1499	CTNNB1	ORPHA:54595
HP:0001513	Obesity	673	BRAF	ORPHA:54595
HP:0001513	Obesity	30011	SH3KBP1	OMIM:300310
HP:0001513	Obesity	92482	BBIP1	ORPHA:110
HP:0001513	Obesity	92482	BBIP1	OMIM:615995
HP:0001513	Obesity	80184	CEP290	ORPHA:110
HP:0001513	Obesity	80184	CEP290	OMIM:615991
HP:0001513	Obesity	11020	IFT27	ORPHA:110
HP:0001513	Obesity	11020	IFT27	OMIM:615996
HP:0001513	Obesity	49855	SCAPER	ORPHA:110
HP:0001513	Obesity	4867	NPHP1	ORPHA:110
HP:0001513	Obesity	51057	WDPCP	ORPHA:110
HP:0001513	Obesity	132320	SCLT1	ORPHA:110
HP:0001513	Obesity	27241	BBS9	ORPHA:110
HP:0001513	Obesity	27241	BBS9	OMIM:615986
HP:0001513	Obesity	22954	TRIM32	ORPHA:110
HP:0001513	Obesity	22954	TRIM32	OMIM:615988
HP:0001513	Obesity	54903	MKS1	ORPHA:110
HP:0001513	Obesity	54903	MKS1	OMIM:615990
HP:0001513	Obesity	79738	BBS10	ORPHA:110
HP:0001513	Obesity	79738	BBS10	OMIM:615987
HP:0001513	Obesity	123016	TTC8	ORPHA:110
HP:0001513	Obesity	123016	TTC8	OMIM:615985
HP:0001513	Obesity	123016	TTC8	OMIM:613464
HP:0001513	Obesity	26160	IFT172	ORPHA:110
HP:0001513	Obesity	26160	IFT172	OMIM:615630
HP:0001513	Obesity	26160	IFT172	OMIM:619471
HP:0001513	Obesity	585	BBS4	ORPHA:110
HP:0001513	Obesity	585	BBS4	OMIM:615982
HP:0001513	Obesity	8195	MKKS	ORPHA:110
HP:0001513	Obesity	8195	MKKS	OMIM:605231
HP:0001513	Obesity	54585	LZTFL1	ORPHA:110
HP:0001513	Obesity	54585	LZTFL1	OMIM:615994
HP:0001513	Obesity	55212	BBS7	ORPHA:110
HP:0001513	Obesity	55212	BBS7	OMIM:615984
HP:0001513	Obesity	166379	BBS12	ORPHA:110
HP:0001513	Obesity	166379	BBS12	OMIM:615989
HP:0001513	Obesity	10806	SDCCAG8	ORPHA:110
HP:0001513	Obesity	10806	SDCCAG8	OMIM:615993
HP:0001513	Obesity	157657	CFAP418	ORPHA:110
HP:0001513	Obesity	157657	CFAP418	OMIM:617406
HP:0001513	Obesity	129880	BBS5	ORPHA:110
HP:0001513	Obesity	129880	BBS5	OMIM:615983
HP:0001513	Obesity	80173	IFT74	ORPHA:110
HP:0001513	Obesity	80173	IFT74	OMIM:617119
HP:0001513	Obesity	57498	KIDINS220	ORPHA:521390
HP:0001513	Obesity	57498	KIDINS220	OMIM:617296
HP:0001513	Obesity	27125	AFF4	OMIM:616368
HP:0001513	Obesity	27125	AFF4	ORPHA:444077
HP:0001513	Obesity	4808	NHLH2	OMIM:619755
HP:0001513	Obesity	6804	STX1A	ORPHA:904
HP:0001513	Obesity	7461	CLIP2	ORPHA:904
HP:0001513	Obesity	84277	DNAJC30	ORPHA:904
HP:0001513	Obesity	8468	FKBP6	ORPHA:904
HP:0001513	Obesity	5982	RFC2	ORPHA:904
HP:0001513	Obesity	2969	GTF2I	ORPHA:904
HP:0001513	Obesity	3984	LIMK1	ORPHA:904
HP:0001513	Obesity	9569	GTF2IRD1	ORPHA:904
HP:0001513	Obesity	155382	VPS37D	ORPHA:904
HP:0001513	Obesity	155368	METTL27	ORPHA:904
HP:0001513	Obesity	114049	BUD23	ORPHA:904
HP:0001513	Obesity	7458	EIF4H	ORPHA:904
HP:0001513	Obesity	84163	GTF2IRD2	ORPHA:904
HP:0001513	Obesity	26608	TBL2	ORPHA:904
HP:0001513	Obesity	653361	NCF1	ORPHA:904
HP:0001513	Obesity	135886	TMEM270	ORPHA:904
HP:0001513	Obesity	9031	BAZ1B	ORPHA:904
HP:0001513	Obesity	2006	ELN	ORPHA:904
HP:0001513	Obesity	2006	ELN	OMIM:194050
HP:0001513	Obesity	8314	BAP1	ORPHA:2495
HP:0001513	Obesity	4771	NF2	ORPHA:2495
HP:0001513	Obesity	6598	SMARCB1	ORPHA:2495
HP:0001513	Obesity	5155	PDGFB	ORPHA:2495
HP:0001513	Obesity	84231	TRAF7	ORPHA:2495
HP:0001513	Obesity	6608	SMO	ORPHA:2495
HP:0001513	Obesity	207	AKT1	ORPHA:2495
HP:0001513	Obesity	5290	PIK3CA	ORPHA:2495
HP:0001513	Obesity	7015	TERT	ORPHA:2495
HP:0001513	Obesity	51684	SUFU	ORPHA:2495
HP:0001513	Obesity	6605	SMARCE1	ORPHA:2495
HP:0001513	Obesity	5590	PRKCZ	ORPHA:1606
HP:0001513	Obesity	2563	GABRD	ORPHA:1606
HP:0001513	Obesity	23013	SPEN	ORPHA:1606
HP:0001513	Obesity	23013	SPEN	OMIM:619312
HP:0001513	Obesity	8510	MMP23B	ORPHA:1606
HP:0001513	Obesity	7798	LUZP1	ORPHA:1606
HP:0001513	Obesity	6497	SKI	ORPHA:1606
HP:0001513	Obesity	10630	PDPN	ORPHA:1606
HP:0001513	Obesity	3339	HSPG2	ORPHA:1606
HP:0001513	Obesity	10277	UBE4B	ORPHA:1606
HP:0001513	Obesity	8514	KCNAB2	ORPHA:1606
HP:0001513	Obesity	473	RERE	ORPHA:1606
HP:0001513	Obesity	63976	PRDM16	ORPHA:1606
HP:0001513	Obesity	54897	CASZ1	ORPHA:1606
HP:0001513	Obesity	7337	UBE3A	OMIM:105830
HP:0001513	Obesity	7337	UBE3A	ORPHA:98794
HP:0001513	Obesity	7337	UBE3A	ORPHA:411511
HP:0001513	Obesity	7337	UBE3A	ORPHA:411515
HP:0001513	Obesity	6638	SNRPN	OMIM:105830
HP:0001513	Obesity	6638	SNRPN	ORPHA:98754
HP:0001513	Obesity	6638	SNRPN	ORPHA:177904
HP:0001513	Obesity	6638	SNRPN	ORPHA:177901
HP:0001513	Obesity	6638	SNRPN	ORPHA:177910
HP:0001513	Obesity	6638	SNRPN	ORPHA:177907
HP:0001513	Obesity	6638	SNRPN	ORPHA:411515
HP:0001513	Obesity	100134444	KCNJ18	ORPHA:79102
HP:0001513	Obesity	2556	GABRA3	ORPHA:79102
HP:0001513	Obesity	779	CACNA1S	ORPHA:79102
HP:0001513	Obesity	55027	HEATR3	OMIM:620072
HP:0001513	Obesity	283209	PGM2L1	OMIM:620191
HP:0001513	Obesity	5244	ABCB4	ORPHA:69663
HP:0001513	Obesity	4089	SMAD4	OMIM:139210
HP:0001513	Obesity	130340	AP1S3	ORPHA:247353
HP:0001513	Obesity	26525	IL36RN	ORPHA:247353
HP:0001513	Obesity	8481	OFD1	OMIM:300209
HP:0001513	Obesity	8481	OFD1	OMIM:300804
HP:0001513	Obesity	6942	TCF20	OMIM:618430
HP:0001513	Obesity	57466	SCAF4	OMIM:620511
HP:0001513	Obesity	51085	MLXIPL	OMIM:194050
HP:0001513	Obesity	4205	MEF2A	OMIM:608320
HP:0001513	Obesity	6473	SHOX	ORPHA:314795
HP:0001513	Obesity	124583	CANT1	OMIM:251450
HP:0001513	Obesity	4692	NDN	ORPHA:98754
HP:0001513	Obesity	4692	NDN	ORPHA:177904
HP:0001513	Obesity	4692	NDN	ORPHA:177901
HP:0001513	Obesity	4692	NDN	ORPHA:177910
HP:0001513	Obesity	54551	MAGEL2	ORPHA:98754
HP:0001513	Obesity	54551	MAGEL2	OMIM:176270
HP:0001513	Obesity	54551	MAGEL2	ORPHA:177904
HP:0001513	Obesity	54551	MAGEL2	ORPHA:177901
HP:0001513	Obesity	54551	MAGEL2	ORPHA:177910
HP:0001513	Obesity	54551	MAGEL2	OMIM:615547
HP:0001513	Obesity	4948	OCA2	ORPHA:98754
HP:0001513	Obesity	4948	OCA2	ORPHA:98794
HP:0001513	Obesity	4948	OCA2	ORPHA:177904
HP:0001513	Obesity	4948	OCA2	ORPHA:177901
HP:0001513	Obesity	7030	TFE3	OMIM:301066
HP:0001513	Obesity	5122	PCSK1	OMIM:600955
HP:0001513	Obesity	5122	PCSK1	ORPHA:71528
HP:0001513	Obesity	23162	MAPK8IP3	OMIM:618443
HP:0001513	Obesity	27086	FOXP1	OMIM:613670
HP:0001513	Obesity	546	ATRX	OMIM:309580
HP:0001513	Obesity	26047	CNTNAP2	OMIM:610042
HP:0001513	Obesity	26047	CNTNAP2	ORPHA:163681
HP:0001513	Obesity	81887	LAS1L	OMIM:309585
HP:0001513	Obesity	51322	WAC	ORPHA:466950
HP:0001513	Obesity	51199	NIN	ORPHA:319675
HP:0001513	Obesity	2273	FHL1	ORPHA:98863
HP:0001513	Obesity	2010	EMD	ORPHA:98863
HP:0001513	Obesity	23590	PDSS1	OMIM:614651
HP:0001513	Obesity	1642	DDB1	OMIM:619426
HP:0001513	Obesity	5908	RAP1B	OMIM:620654
HP:0001513	Obesity	4000	LMNA	ORPHA:98855
HP:0001513	Obesity	4000	LMNA	ORPHA:98853
HP:0001513	Obesity	4000	LMNA	OMIM:151660
HP:0001513	Obesity	2260	FGFR1	ORPHA:478
HP:0001513	Obesity	2260	FGFR1	ORPHA:3157
HP:0001513	Obesity	10371	SEMA3A	ORPHA:478
HP:0001513	Obesity	81848	SPRY4	ORPHA:478
HP:0001513	Obesity	23767	FLRT3	ORPHA:478
HP:0001513	Obesity	128674	PROKR2	ORPHA:478
HP:0001513	Obesity	128674	PROKR2	ORPHA:3157
HP:0001513	Obesity	79625	NDNF	ORPHA:478
HP:0001513	Obesity	2253	FGF8	ORPHA:478
HP:0001513	Obesity	389549	FEZF1	ORPHA:478
HP:0001513	Obesity	1630	DCC	ORPHA:478
HP:0001513	Obesity	3730	ANOS1	ORPHA:478
HP:0001513	Obesity	54756	IL17RD	ORPHA:478
HP:0001513	Obesity	6663	SOX10	ORPHA:478
HP:0001513	Obesity	285025	CCDC141	ORPHA:478
HP:0001513	Obesity	60675	PROK2	ORPHA:478
HP:0001513	Obesity	60675	PROK2	OMIM:610628
HP:0001513	Obesity	55636	CHD7	ORPHA:478
HP:0001513	Obesity	1848	DUSP6	ORPHA:478
HP:0001513	Obesity	6870	TACR3	ORPHA:478
HP:0001513	Obesity	55717	WDR11	ORPHA:478
HP:0001513	Obesity	9394	HS6ST1	ORPHA:478
HP:0001513	Obesity	8820	HESX1	ORPHA:478
HP:0001513	Obesity	8820	HESX1	ORPHA:3157
HP:0001513	Obesity	8822	FGF17	ORPHA:478
HP:0001513	Obesity	79188	TMEM43	ORPHA:98853
HP:0001513	Obesity	23345	SYNE1	ORPHA:98853
HP:0001513	Obesity	23224	SYNE2	ORPHA:98853
HP:0001513	Obesity	3767	KCNJ11	ORPHA:552
HP:0001513	Obesity	8462	KLF11	ORPHA:552
HP:0001513	Obesity	2645	GCK	ORPHA:552
HP:0001513	Obesity	26060	APPL1	ORPHA:552
HP:0001513	Obesity	640	BLK	ORPHA:552
HP:0001513	Obesity	640	BLK	OMIM:613375
HP:0001513	Obesity	1056	CEL	ORPHA:552
HP:0001513	Obesity	4760	NEUROD1	ORPHA:552
HP:0001513	Obesity	3651	PDX1	ORPHA:552
HP:0001513	Obesity	6833	ABCC8	ORPHA:552
HP:0001513	Obesity	5078	PAX4	ORPHA:552
HP:0001513	Obesity	3172	HNF4A	ORPHA:552
HP:0001513	Obesity	6927	HNF1A	ORPHA:552
HP:0001513	Obesity	3630	INS	ORPHA:552
HP:0001513	Obesity	388015	RTL1	ORPHA:254531
HP:0001513	Obesity	388015	RTL1	ORPHA:254525
HP:0001513	Obesity	388015	RTL1	ORPHA:96184
HP:0001513	Obesity	8788	DLK1	ORPHA:254531
HP:0001513	Obesity	8788	DLK1	ORPHA:254525
HP:0001513	Obesity	8788	DLK1	ORPHA:96184
HP:0001513	Obesity	55384	MEG3	ORPHA:254531
HP:0001513	Obesity	55384	MEG3	ORPHA:254525
HP:0001513	Obesity	55384	MEG3	ORPHA:96184
HP:0001513	Obesity	55217	TMLHE	OMIM:300872
HP:0001513	Obesity	2245	FGD1	OMIM:305400
HP:0001513	Obesity	6492	SIM1	ORPHA:369873
HP:0001513	Obesity	6492	SIM1	ORPHA:171829
HP:0001513	Obesity	6492	SIM1	ORPHA:398079
HP:0001513	Obesity	91147	TMEM67	OMIM:615991
HP:0001513	Obesity	89891	DYNC2I2	OMIM:615633
HP:0001513	Obesity	3290	HSD11B1	OMIM:614662
HP:0001513	Obesity	23394	ADNP	OMIM:615873
HP:0001513	Obesity	9759	HDAC4	ORPHA:1001
HP:0001513	Obesity	9759	HDAC4	OMIM:600430
HP:0001513	Obesity	5443	POMC	ORPHA:71526
HP:0001513	Obesity	5443	POMC	OMIM:609734
HP:0001513	Obesity	5443	POMC	OMIM:601665
HP:0001513	Obesity	84320	ACBD6	OMIM:620785
HP:0001513	Obesity	100033413	SNORD116-1	OMIM:176270
HP:0001513	Obesity	8924	HERC2	OMIM:176270
HP:0001513	Obesity	23742	NPAP1	OMIM:176270
HP:0001513	Obesity	338433	SNORD115-1	OMIM:176270
HP:0001513	Obesity	7681	MKRN3	OMIM:176270
HP:0001513	Obesity	145624	PWAR1	OMIM:176270
HP:0001513	Obesity	3653	IPW	OMIM:176270
HP:0001513	Obesity	791114	PWRN1	OMIM:176270
HP:0001513	Obesity	5575	PRKAR1B	OMIM:619680
HP:0001513	Obesity	1387	CREBBP	ORPHA:353281
HP:0001513	Obesity	1387	CREBBP	ORPHA:353277
HP:0001513	Obesity	79048	SECISBP2	ORPHA:171706
HP:0001513	Obesity	8085	KMT2D	ORPHA:2322
HP:0001513	Obesity	8085	KMT2D	OMIM:147920
HP:0001513	Obesity	7403	KDM6A	ORPHA:2322
HP:0001513	Obesity	7403	KDM6A	OMIM:147920
HP:0001513	Obesity	23524	SRRM2	OMIM:620439
HP:0001513	Obesity	1363	CPE	OMIM:619326
HP:0001513	Obesity	2033	EP300	ORPHA:353284
HP:0001513	Obesity	348	APOE	ORPHA:412
HP:0001513	Obesity	4204	MECP2	OMIM:300055
HP:0001513	Obesity	4204	MECP2	ORPHA:3077
HP:0001513	Obesity	8888	MCM3AP	OMIM:618124
HP:0001513	Obesity	84068	SLC10A7	OMIM:618363
HP:0001513	Obesity	7275	TUB	OMIM:616188
HP:0001513	Obesity	11253	MAN1B1	OMIM:614202
HP:0001513	Obesity	291	SLC25A4	OMIM:615418
HP:0001513	Obesity	26146	TRAF3IP1	OMIM:616629
HP:0001513	Obesity	1312	COMT	ORPHA:567
HP:0001513	Obesity	221037	JMJD1C	ORPHA:567
HP:0001513	Obesity	2812	GP1BB	ORPHA:567
HP:0001513	Obesity	6239	RREB1	ORPHA:567
HP:0001513	Obesity	7290	HIRA	ORPHA:567
HP:0001513	Obesity	9632	SEC24C	ORPHA:567
HP:0001513	Obesity	7353	UFD1	ORPHA:567
HP:0001513	Obesity	421	ARVCF	ORPHA:567
HP:0001513	Obesity	2261	FGFR3	ORPHA:15
HP:0001513	Obesity	1760	DMPK	ORPHA:589821
HP:0001513	Obesity	26040	SETBP1	OMIM:616078
HP:0001513	Obesity	83696	TRAPPC9	ORPHA:352530
HP:0001513	Obesity	23395	LARS2	OMIM:615300
HP:0001513	Obesity	208	AKT2	OMIM:240900
HP:0001513	Obesity	9049	AIP	OMIM:219090
HP:0001513	Obesity	9101	USP8	OMIM:219090
HP:0001513	Obesity	6304	SATB1	OMIM:619229
HP:0001513	Obesity	51715	RAB23	ORPHA:65759
HP:0001513	Obesity	51715	RAB23	OMIM:201000
HP:0001513	Obesity	9563	H6PD	OMIM:604931
HP:0001513	Obesity	155	ADRB3	OMIM:601665
HP:0001513	Obesity	5167	ENPP1	OMIM:601665
HP:0001513	Obesity	7352	UCP3	OMIM:601665
HP:0001513	Obesity	8431	NR0B2	OMIM:601665
HP:0001513	Obesity	9607	CARTPT	OMIM:601665
HP:0001513	Obesity	51738	GHRL	OMIM:601665
HP:0001513	Obesity	9672	SDC3	OMIM:601665
HP:0001513	Obesity	181	AGRP	OMIM:601665
HP:0001513	Obesity	5468	PPARG	OMIM:601665
HP:0001513	Obesity	157680	VPS13B	ORPHA:193
HP:0001513	Obesity	51604	PIGT	ORPHA:369837
HP:0001513	Obesity	6711	SPTBN1	OMIM:619475
HP:0001513	Obesity	23040	MYT1L	OMIM:616521
HP:0001513	Obesity	23040	MYT1L	ORPHA:647799
HP:0001513	Obesity	54361	WNT4	ORPHA:247768
HP:0001513	Obesity	91461	PKDCC	OMIM:618821
HP:0001513	Obesity	8087	FXR1	OMIM:618822
HP:0001513	Obesity	63932	STEEP1	OMIM:301013
HP:0001513	Obesity	213	ALB	ORPHA:86816
HP:0001513	Obesity	200894	ARL13B	OMIM:612291
HP:0001513	Obesity	51124	IER3IP1	OMIM:614231
HP:0001513	Obesity	23233	EXOC6B	OMIM:618395
HP:0001513	Obesity	8450	CUL4B	ORPHA:85293
HP:0001513	Obesity	5456	POU3F4	ORPHA:1435
HP:0001513	Obesity	627	BDNF	ORPHA:893
HP:0001513	Obesity	84295	PHF6	OMIM:301900
HP:0001513	Obesity	1512	CTSH	ORPHA:2073
HP:0001513	Obesity	5032	P2RY11	ORPHA:2073
HP:0001513	Obesity	4340	MOG	ORPHA:2073
HP:0001513	Obesity	4340	MOG	OMIM:614250
HP:0001513	Obesity	3119	HLA-DQB1	ORPHA:2073
HP:0001513	Obesity	3060	HCRT	ORPHA:2073
HP:0001513	Obesity	22891	ZNF365	ORPHA:2073
HP:0001513	Obesity	7292	TNFSF4	ORPHA:2073
HP:0001513	Obesity	3123	HLA-DRB1	ORPHA:2073
HP:0001513	Obesity	9320	TRIP12	OMIM:617752
HP:0001513	Obesity	55023	PHIP	OMIM:617991
HP:0001513	Obesity	1315	COPB1	OMIM:619255
HP:0001513	Obesity	51099	ABHD5	ORPHA:98907
HP:0001513	Obesity	51317	PHF21A	OMIM:618725
HP:0001513	Obesity	57104	PNPLA2	ORPHA:98908
HP:0001513	Obesity	1968	EIF2S3	ORPHA:85282
HP:0001513	Obesity	1968	EIF2S3	OMIM:300148
HP:0001513	Obesity	37	ACADVL	ORPHA:26793
HP:0001513	Obesity	23102	TBC1D2B	ORPHA:397973
HP:0001513	Obesity	375056	MIA3	OMIM:619269
HP:0001513	Obesity	1806	DPYD	ORPHA:293948
HP:0001513	Obesity	109	ADCY3	OMIM:617885
HP:0001513	Obesity	6736	SRY	ORPHA:1772
HP:0001513	Obesity	57194	ATP10A	ORPHA:411515
HP:0001513	Obesity	6657	SOX2	ORPHA:3157
HP:0001513	Obesity	6658	SOX3	ORPHA:3157
HP:0001513	Obesity	5015	OTX2	ORPHA:3157
HP:0001513	Obesity	283450	HECTD4	OMIM:620250
HP:0001513	Obesity	23476	BRD4	ORPHA:199
HP:0001513	Obesity	9126	SMC3	ORPHA:199
HP:0001513	Obesity	8243	SMC1A	ORPHA:199
HP:0001513	Obesity	6878	TAF6	ORPHA:199
HP:0001513	Obesity	25836	NIPBL	ORPHA:199
HP:0001513	Obesity	55869	HDAC8	ORPHA:199
HP:0001513	Obesity	55869	HDAC8	OMIM:300882
HP:0001513	Obesity	55869	HDAC8	ORPHA:3459
HP:0001513	Obesity	5885	RAD21	ORPHA:199
HP:0001513	Obesity	3479	IGF1	ORPHA:73272
HP:0001513	Obesity	57187	THOC2	OMIM:300957
HP:0001513	Obesity	26137	ZBTB20	OMIM:259050
HP:0001513	Obesity	755	CFAP410	OMIM:617547
HP:0001513	Obesity	23187	PHLDB1	OMIM:620639
HP:0001513	Obesity	56623	INPP5E	OMIM:610156
HP:0001513	Obesity	56623	INPP5E	ORPHA:75858
HP:0001513	Obesity	50940	PDE11A	OMIM:610475
HP:0001513	Obesity	55599	RNPC3	OMIM:618160
HP:0001513	Obesity	84196	USP48	ORPHA:96253
HP:0001513	Obesity	7157	TP53	ORPHA:96253
HP:0001513	Obesity	64072	CDH23	ORPHA:96253
HP:0001513	Obesity	2908	NR3C1	ORPHA:96253
HP:0001513	Obesity	2332	FMR1	ORPHA:261483
HP:0001513	Obesity	7518	XRCC4	OMIM:616541
HP:0001513	Obesity	3483	IGFALS	ORPHA:140941
HP:0001513	Obesity	5116	PCNT	ORPHA:2637
HP:0001513	Obesity	5116	PCNT	OMIM:210720
HP:0001513	Obesity	9149	DYRK1B	OMIM:615812
HP:0001513	Obesity	64131	XYLT1	OMIM:615777
HP:0001513	Obesity	64131	XYLT1	ORPHA:370930
HP:0001513	Obesity	5573	PRKAR1A	OMIM:610489
HP:0001513	Obesity	9056	SLC7A7	OMIM:222700
HP:0001513	Obesity	5718	PSMD12	ORPHA:529962
HP:0001513	Obesity	2186	BPTF	ORPHA:529962
HP:0001513	Obesity	2703	GJA8	OMIM:612474
HP:0001513	Obesity	2702	GJA5	OMIM:612474
HP:0001513	Obesity	3480	IGF1R	OMIM:270450
HP:0001513	Obesity	2690	GHR	ORPHA:633
HP:0001513	Obesity	641	BLM	ORPHA:125
HP:0001513	Obesity	3991	LIPE	OMIM:615980
HP:0001513	Obesity	79576	NKAP	OMIM:301039
HP:0001513	Obesity	8882	ZPR1	OMIM:619321
HP:0001513	Obesity	79798	ARMC5	ORPHA:189427
HP:0001513	Obesity	79798	ARMC5	OMIM:615954
HP:0001513	Obesity	23028	KDM1A	ORPHA:189427
HP:0001513	Obesity	54805	CNNM2	OMIM:616418
HP:0030884	Gastrojejunal tube feeding in infancy	2019	EN1	OMIM:619218
HP:0030884	Gastrojejunal tube feeding in infancy	25828	TXN2	ORPHA:478029
HP:0030884	Gastrojejunal tube feeding in infancy	126792	B3GALT6	OMIM:609465
HP:0030883	Femoroacetabular impingement	2131	EXT1	ORPHA:321
HP:0030883	Femoroacetabular impingement	2132	EXT2	ORPHA:321
HP:0030882	Coronary artery aneurysm	3949	LDLR	ORPHA:391665
HP:0030882	Coronary artery aneurysm	255738	PCSK9	ORPHA:391665
HP:0030882	Coronary artery aneurysm	26119	LDLRAP1	ORPHA:391665
HP:0030882	Coronary artery aneurysm	338	APOB	ORPHA:391665
HP:0030882	Coronary artery aneurysm	64240	ABCG5	ORPHA:391665
HP:0030882	Coronary artery aneurysm	64241	ABCG8	ORPHA:391665
HP:0030882	Coronary artery aneurysm	5592	PRKG1	OMIM:615436
HP:0030880	Raynaud phenomenon	2982	GUCY1A1	OMIM:615750
HP:0030880	Raynaud phenomenon	2982	GUCY1A1	ORPHA:401945
HP:0030880	Raynaud phenomenon	11277	TREX1	OMIM:192315
HP:0030880	Raynaud phenomenon	11277	TREX1	ORPHA:536
HP:0030880	Raynaud phenomenon	11277	TREX1	OMIM:610448
HP:0030880	Raynaud phenomenon	11277	TREX1	ORPHA:247691
HP:0030880	Raynaud phenomenon	11277	TREX1	ORPHA:51
HP:0030880	Raynaud phenomenon	189	AGXT	OMIM:259900
HP:0030880	Raynaud phenomenon	27235	COQ2	ORPHA:227510
HP:0030880	Raynaud phenomenon	27235	COQ2	ORPHA:98933
HP:0030880	Raynaud phenomenon	6775	STAT4	ORPHA:93552
HP:0030880	Raynaud phenomenon	6775	STAT4	ORPHA:536
HP:0030880	Raynaud phenomenon	6696	SPP1	ORPHA:93552
HP:0030880	Raynaud phenomenon	6696	SPP1	ORPHA:536
HP:0030880	Raynaud phenomenon	6303	SAT1	ORPHA:93552
HP:0030880	Raynaud phenomenon	3654	IRAK1	ORPHA:93552
HP:0030880	Raynaud phenomenon	3654	IRAK1	ORPHA:536
HP:0030880	Raynaud phenomenon	51816	ADA2	ORPHA:820
HP:0030880	Raynaud phenomenon	51816	ADA2	OMIM:615688
HP:0030880	Raynaud phenomenon	51284	TLR7	OMIM:301080
HP:0030880	Raynaud phenomenon	51284	TLR7	ORPHA:536
HP:0030880	Raynaud phenomenon	4000	LMNA	ORPHA:740
HP:0030880	Raynaud phenomenon	10269	ZMPSTE24	ORPHA:740
HP:0030880	Raynaud phenomenon	81575	APOLD1	OMIM:620715
HP:0030880	Raynaud phenomenon	29927	SEC61A1	OMIM:620670
HP:0030880	Raynaud phenomenon	2215	FCGR3B	ORPHA:536
HP:0030880	Raynaud phenomenon	3684	ITGAM	ORPHA:536
HP:0030880	Raynaud phenomenon	3586	IL10	ORPHA:536
HP:0030880	Raynaud phenomenon	221895	JAZF1	ORPHA:536
HP:0030880	Raynaud phenomenon	7292	TNFSF4	ORPHA:536
HP:0030880	Raynaud phenomenon	640	BLK	ORPHA:536
HP:0030880	Raynaud phenomenon	720	C4A	ORPHA:536
HP:0030880	Raynaud phenomenon	55024	BANK1	ORPHA:536
HP:0030880	Raynaud phenomenon	3500	IGHG1	ORPHA:536
HP:0030880	Raynaud phenomenon	1493	CTLA4	ORPHA:536
HP:0030880	Raynaud phenomenon	26191	PTPN22	ORPHA:536
HP:0030880	Raynaud phenomenon	1380	CR2	ORPHA:536
HP:0030880	Raynaud phenomenon	5133	PDCD1	ORPHA:536
HP:0030880	Raynaud phenomenon	2113	ETS1	ORPHA:536
HP:0030880	Raynaud phenomenon	2213	FCGR2B	ORPHA:536
HP:0030880	Raynaud phenomenon	10318	TNIP1	ORPHA:536
HP:0030880	Raynaud phenomenon	7332	UBE2L3	ORPHA:536
HP:0030880	Raynaud phenomenon	79932	KIAA0319L	ORPHA:536
HP:0030880	Raynaud phenomenon	4204	MECP2	ORPHA:536
HP:0030880	Raynaud phenomenon	3663	IRF5	ORPHA:536
HP:0030880	Raynaud phenomenon	3123	HLA-DRB1	ORPHA:536
HP:0030880	Raynaud phenomenon	721	C4B	ORPHA:536
HP:0030880	Raynaud phenomenon	1773	DNASE1	ORPHA:536
HP:0030880	Raynaud phenomenon	54899	PXK	ORPHA:536
HP:0030880	Raynaud phenomenon	7128	TNFAIP3	ORPHA:536
HP:0030880	Raynaud phenomenon	54	ACP5	OMIM:607944
HP:0030880	Raynaud phenomenon	54	ACP5	ORPHA:1855
HP:0030880	Raynaud phenomenon	54941	RNF125	OMIM:616260
HP:0030880	Raynaud phenomenon	3930	LBR	OMIM:613471
HP:0030880	Raynaud phenomenon	340061	STING1	OMIM:615934
HP:0030880	Raynaud phenomenon	1282	COL4A1	OMIM:611773
HP:0030880	Raynaud phenomenon	3265	HRAS	ORPHA:2874
HP:0030880	Raynaud phenomenon	10535	RNASEH2A	ORPHA:51
HP:0030880	Raynaud phenomenon	84153	RNASEH2C	ORPHA:51
HP:0030880	Raynaud phenomenon	25939	SAMHD1	ORPHA:51
HP:0030880	Raynaud phenomenon	79621	RNASEH2B	ORPHA:51
HP:0030880	Raynaud phenomenon	103	ADAR	ORPHA:51
HP:0030880	Raynaud phenomenon	100147744	RNU7-1	ORPHA:51
HP:0030880	Raynaud phenomenon	134353	LSM11	ORPHA:51
HP:0030880	Raynaud phenomenon	64135	IFIH1	ORPHA:51
HP:0030880	Raynaud phenomenon	1188	CLCNKB	ORPHA:358
HP:0030880	Raynaud phenomenon	6559	SLC12A3	ORPHA:358
HP:0030889	Congenital shortened small intestine	79827	CLMP	OMIM:615237
HP:0030889	Congenital shortened small intestine	2294	FOXF1	OMIM:265380
HP:0030889	Congenital shortened small intestine	2316	FLNA	OMIM:300048
HP:0004771	Premature graying of body hair	25778	DSTYK	OMIM:270750
HP:0004779	Brittle scalp hair	10804	GJB6	ORPHA:189
HP:0004779	Brittle scalp hair	11005	SPINK5	OMIM:256500
HP:0002225	Sparse pubic hair	668	FOXL2	OMIM:110100
HP:0002225	Sparse pubic hair	147495	APCDD1	OMIM:605389
HP:0002225	Sparse pubic hair	4193	MDM2	OMIM:618681
HP:0002225	Sparse pubic hair	3122	HLA-DRA	ORPHA:505
HP:0002225	Sparse pubic hair	8626	TP63	OMIM:604292
HP:0002225	Sparse pubic hair	10804	GJB6	ORPHA:189
HP:0002225	Sparse pubic hair	29893	PSMC3IP	ORPHA:243
HP:0002225	Sparse pubic hair	171568	POLR3H	ORPHA:243
HP:0002225	Sparse pubic hair	2516	NR5A1	ORPHA:243
HP:0002225	Sparse pubic hair	2516	NR5A1	ORPHA:251510
HP:0002225	Sparse pubic hair	125150	ZSWIM7	ORPHA:243
HP:0002225	Sparse pubic hair	9210	BMP15	ORPHA:243
HP:0002225	Sparse pubic hair	57122	NUP107	ORPHA:243
HP:0002225	Sparse pubic hair	23514	SPIDR	ORPHA:243
HP:0002225	Sparse pubic hair	2492	FSHR	ORPHA:243
HP:0002225	Sparse pubic hair	56945	MRPS22	ORPHA:243
HP:0002225	Sparse pubic hair	646	BNC1	ORPHA:243
HP:0002225	Sparse pubic hair	4438	MSH4	ORPHA:243
HP:0002225	Sparse pubic hair	284252	KCTD1	OMIM:181270
HP:0002225	Sparse pubic hair	3730	ANOS1	OMIM:308700
HP:0002225	Sparse pubic hair	367	AR	OMIM:300068
HP:0002225	Sparse pubic hair	367	AR	ORPHA:99429
HP:0002225	Sparse pubic hair	2488	FSHB	ORPHA:52901
HP:0002225	Sparse pubic hair	3972	LHB	OMIM:228300
HP:0002225	Sparse pubic hair	4047	LSS	OMIM:618275
HP:0002225	Sparse pubic hair	1528	CYB5A	ORPHA:90796
HP:0002225	Sparse pubic hair	1586	CYP17A1	ORPHA:90796
HP:0002225	Sparse pubic hair	6144	RPL21	OMIM:615885
HP:0002225	Sparse pubic hair	285025	CCDC141	OMIM:146110
HP:0002225	Sparse pubic hair	9723	SEMA3E	OMIM:146110
HP:0002225	Sparse pubic hair	10011	SRA1	OMIM:146110
HP:0002225	Sparse pubic hair	2796	GNRH1	OMIM:146110
HP:0002225	Sparse pubic hair	81848	SPRY4	OMIM:146110
HP:0002225	Sparse pubic hair	389549	FEZF1	OMIM:146110
HP:0002225	Sparse pubic hair	55717	WDR11	OMIM:146110
HP:0002225	Sparse pubic hair	8822	FGF17	OMIM:146110
HP:0002225	Sparse pubic hair	558	AXL	OMIM:146110
HP:0002225	Sparse pubic hair	1848	DUSP6	OMIM:146110
HP:0002225	Sparse pubic hair	2798	GNRHR	OMIM:146110
HP:0002225	Sparse pubic hair	190	NR0B1	ORPHA:95702
HP:0002225	Sparse pubic hair	190	NR0B1	ORPHA:251510
HP:0002225	Sparse pubic hair	55012	PPP2R3C	OMIM:618419
HP:0002225	Sparse pubic hair	6662	SOX9	ORPHA:251510
HP:0002225	Sparse pubic hair	6845	VAMP7	ORPHA:251510
HP:0002225	Sparse pubic hair	51741	WWOX	ORPHA:251510
HP:0002225	Sparse pubic hair	4214	MAP3K1	ORPHA:251510
HP:0002225	Sparse pubic hair	7490	WT1	ORPHA:251510
HP:0002225	Sparse pubic hair	57647	DHX37	ORPHA:251510
HP:0002225	Sparse pubic hair	6736	SRY	ORPHA:251510
HP:0002225	Sparse pubic hair	23414	ZFPM2	ORPHA:251510
HP:0002225	Sparse pubic hair	2626	GATA4	ORPHA:251510
HP:0002225	Sparse pubic hair	23594	ORC6	OMIM:613803
HP:0002225	Sparse pubic hair	1308	COL17A1	ORPHA:251393
HP:0002225	Sparse pubic hair	3691	ITGB4	ORPHA:251393
HP:0030890	Hyperintensity of cerebral white matter on MRI	410	ARSA	ORPHA:309271
HP:0030890	Hyperintensity of cerebral white matter on MRI	410	ARSA	ORPHA:309263
HP:0030890	Hyperintensity of cerebral white matter on MRI	410	ARSA	ORPHA:309256
HP:0030890	Hyperintensity of cerebral white matter on MRI	1267	CNP	OMIM:619071
HP:0030890	Hyperintensity of cerebral white matter on MRI	2760	GM2A	ORPHA:309246
HP:0030890	Hyperintensity of cerebral white matter on MRI	9150	CTDP1	ORPHA:48431
HP:0030890	Hyperintensity of cerebral white matter on MRI	84504	NKX6-2	ORPHA:527497
HP:0030890	Hyperintensity of cerebral white matter on MRI	7862	BRPF1	OMIM:617333
HP:0030890	Hyperintensity of cerebral white matter on MRI	23516	SLC39A14	OMIM:617013
HP:0030890	Hyperintensity of cerebral white matter on MRI	23516	SLC39A14	ORPHA:521406
HP:0030890	Hyperintensity of cerebral white matter on MRI	2033	EP300	OMIM:180849
HP:0030890	Hyperintensity of cerebral white matter on MRI	1387	CREBBP	OMIM:180849
HP:0030890	Hyperintensity of cerebral white matter on MRI	1593	CYP27A1	ORPHA:909
HP:0030890	Hyperintensity of cerebral white matter on MRI	79853	TM4SF20	OMIM:615432
HP:0030890	Hyperintensity of cerebral white matter on MRI	54973	INTS11	OMIM:620428
HP:0030890	Hyperintensity of cerebral white matter on MRI	4762	NEUROG1	OMIM:620469
HP:0030890	Hyperintensity of cerebral white matter on MRI	85365	ALG2	ORPHA:79326
HP:0030890	Hyperintensity of cerebral white matter on MRI	1822	ATN1	ORPHA:101
HP:0030890	Hyperintensity of cerebral white matter on MRI	7343	UBTF	ORPHA:500180
HP:0030890	Hyperintensity of cerebral white matter on MRI	7343	UBTF	OMIM:617672
HP:0030890	Hyperintensity of cerebral white matter on MRI	51112	TRAPPC12	ORPHA:500144
HP:0030890	Hyperintensity of cerebral white matter on MRI	221496	LEMD2	OMIM:619322
HP:0030890	Hyperintensity of cerebral white matter on MRI	1436	CSF1R	OMIM:618476
HP:0030890	Hyperintensity of cerebral white matter on MRI	5917	RARS1	ORPHA:438114
HP:0030890	Hyperintensity of cerebral white matter on MRI	1806	DPYD	ORPHA:1675
HP:0030890	Hyperintensity of cerebral white matter on MRI	7453	WARS1	OMIM:620317
HP:0030890	Hyperintensity of cerebral white matter on MRI	4953	ODC1	ORPHA:544488
HP:0030890	Hyperintensity of cerebral white matter on MRI	5654	HTRA1	OMIM:616779
HP:0030890	Hyperintensity of cerebral white matter on MRI	5660	PSAP	OMIM:611722
HP:0030890	Hyperintensity of cerebral white matter on MRI	5290	PIK3CA	ORPHA:99802
HP:0030890	Hyperintensity of cerebral white matter on MRI	2475	MTOR	ORPHA:99802
HP:0030890	Hyperintensity of cerebral white matter on MRI	10000	AKT3	ORPHA:99802
HP:0030890	Hyperintensity of cerebral white matter on MRI	5354	PLP1	ORPHA:280229
HP:0030890	Hyperintensity of cerebral white matter on MRI	84340	GFM2	ORPHA:565624
HP:0030890	Hyperintensity of cerebral white matter on MRI	1282	COL4A1	OMIM:618564
HP:0030890	Hyperintensity of cerebral white matter on MRI	8913	CACNA1G	ORPHA:458803
HP:0030890	Hyperintensity of cerebral white matter on MRI	63899	NSUN3	OMIM:619012
HP:0030890	Hyperintensity of cerebral white matter on MRI	91869	RFT1	ORPHA:244310
HP:0030890	Hyperintensity of cerebral white matter on MRI	6572	SLC18A3	OMIM:617239
HP:0030890	Hyperintensity of cerebral white matter on MRI	815	CAMK2A	OMIM:617798
HP:0030890	Hyperintensity of cerebral white matter on MRI	4358	MPV17	OMIM:256810
HP:0030890	Hyperintensity of cerebral white matter on MRI	93627	TBCK	OMIM:616900
HP:0030890	Hyperintensity of cerebral white matter on MRI	29920	PYCR2	ORPHA:481152
HP:0030890	Hyperintensity of cerebral white matter on MRI	2055	CLN8	ORPHA:1947
HP:0030890	Hyperintensity of cerebral white matter on MRI	6821	SUOX	OMIM:272300
HP:0030890	Hyperintensity of cerebral white matter on MRI	2583	B4GALNT1	ORPHA:101006
HP:0030890	Hyperintensity of cerebral white matter on MRI	9420	CYP7B1	OMIM:270800
HP:0030890	Hyperintensity of cerebral white matter on MRI	191	AHCY	ORPHA:88618
HP:0030890	Hyperintensity of cerebral white matter on MRI	6390	SDHB	OMIM:619224
HP:0030890	Hyperintensity of cerebral white matter on MRI	9907	AP5Z1	ORPHA:306511
HP:0030890	Hyperintensity of cerebral white matter on MRI	9907	AP5Z1	OMIM:613647
HP:0030890	Hyperintensity of cerebral white matter on MRI	80208	SPG11	ORPHA:2822
HP:0030890	Hyperintensity of cerebral white matter on MRI	27133	KCNH5	OMIM:620537
HP:0030890	Hyperintensity of cerebral white matter on MRI	55154	MSTO1	ORPHA:502423
HP:0030890	Hyperintensity of cerebral white matter on MRI	26834	RNU4-2	OMIM:620851
HP:0030890	Hyperintensity of cerebral white matter on MRI	4001	LMNB1	ORPHA:99027
HP:0030890	Hyperintensity of cerebral white matter on MRI	5297	PI4KA	OMIM:619708
HP:0030890	Hyperintensity of cerebral white matter on MRI	51324	SPG21	OMIM:248900
HP:0030890	Hyperintensity of cerebral white matter on MRI	84065	TMEM222	OMIM:619470
HP:0030890	Hyperintensity of cerebral white matter on MRI	7555	CNBP	OMIM:602668
HP:0030890	Hyperintensity of cerebral white matter on MRI	6134	RPL10	OMIM:300998
HP:0030890	Hyperintensity of cerebral white matter on MRI	5058	PAK1	OMIM:618158
HP:0030890	Hyperintensity of cerebral white matter on MRI	4761	NEUROD2	OMIM:618374
HP:0030890	Hyperintensity of cerebral white matter on MRI	23259	DDHD2	OMIM:615033
HP:0030890	Hyperintensity of cerebral white matter on MRI	23259	DDHD2	ORPHA:320380
HP:0030890	Hyperintensity of cerebral white matter on MRI	22866	CNKSR2	OMIM:301008
HP:0030890	Hyperintensity of cerebral white matter on MRI	9692	PRORP	OMIM:619737
HP:0030890	Hyperintensity of cerebral white matter on MRI	92335	STRADA	ORPHA:500533
HP:0030890	Hyperintensity of cerebral white matter on MRI	51412	ACTL6B	OMIM:618468
HP:0030890	Hyperintensity of cerebral white matter on MRI	25974	MMACHC	ORPHA:79282
HP:0030890	Hyperintensity of cerebral white matter on MRI	2783	GNB2	OMIM:619503
HP:0030890	Hyperintensity of cerebral white matter on MRI	7920	ABHD16A	OMIM:619735
HP:0030890	Hyperintensity of cerebral white matter on MRI	25782	RAB3GAP2	OMIM:212720
HP:0030890	Hyperintensity of cerebral white matter on MRI	85465	SELENOI	OMIM:618768
HP:0030890	Hyperintensity of cerebral white matter on MRI	59	ACTA2	OMIM:613834
HP:0030890	Hyperintensity of cerebral white matter on MRI	80036	TRPM3	OMIM:620224
HP:0030890	Hyperintensity of cerebral white matter on MRI	10060	ABCC9	OMIM:619719
HP:0030890	Hyperintensity of cerebral white matter on MRI	23503	ZFYVE26	ORPHA:100996
HP:0030890	Hyperintensity of cerebral white matter on MRI	11277	TREX1	ORPHA:247691
HP:0030890	Hyperintensity of cerebral white matter on MRI	54704	PDP1	ORPHA:79246
HP:0030890	Hyperintensity of cerebral white matter on MRI	4854	NOTCH3	ORPHA:136
HP:0030890	Hyperintensity of cerebral white matter on MRI	2548	GAA	ORPHA:308552
HP:0030890	Hyperintensity of cerebral white matter on MRI	83480	PUS3	ORPHA:488627
HP:0030897	Decreased intestinal transit time	79827	CLMP	OMIM:615237
HP:0030897	Decreased intestinal transit time	55107	ANO1	OMIM:620045
HP:0030896	Abnormal gastrointestinal transit time	79827	CLMP	OMIM:615237
HP:0030896	Abnormal gastrointestinal transit time	55107	ANO1	OMIM:620045
HP:0030896	Abnormal gastrointestinal transit time	55898	UNC45A	OMIM:619377
HP:0001520	Large for gestational age	3767	KCNJ11	ORPHA:552
HP:0001520	Large for gestational age	3767	KCNJ11	OMIM:601820
HP:0001520	Large for gestational age	3767	KCNJ11	ORPHA:276580
HP:0001520	Large for gestational age	3767	KCNJ11	ORPHA:79644
HP:0001520	Large for gestational age	8462	KLF11	ORPHA:552
HP:0001520	Large for gestational age	2645	GCK	ORPHA:552
HP:0001520	Large for gestational age	26060	APPL1	ORPHA:552
HP:0001520	Large for gestational age	640	BLK	ORPHA:552
HP:0001520	Large for gestational age	1056	CEL	ORPHA:552
HP:0001520	Large for gestational age	4760	NEUROD1	ORPHA:552
HP:0001520	Large for gestational age	3651	PDX1	ORPHA:552
HP:0001520	Large for gestational age	6833	ABCC8	ORPHA:552
HP:0001520	Large for gestational age	6833	ABCC8	ORPHA:276575
HP:0001520	Large for gestational age	6833	ABCC8	OMIM:256450
HP:0001520	Large for gestational age	5078	PAX4	ORPHA:552
HP:0001520	Large for gestational age	3172	HNF4A	ORPHA:552
HP:0001520	Large for gestational age	3172	HNF4A	OMIM:616026
HP:0001520	Large for gestational age	3172	HNF4A	ORPHA:263455
HP:0001520	Large for gestational age	6927	HNF1A	ORPHA:552
HP:0001520	Large for gestational age	6927	HNF1A	ORPHA:324575
HP:0001520	Large for gestational age	3630	INS	ORPHA:552
HP:0001520	Large for gestational age	2737	GLI3	ORPHA:672
HP:0001520	Large for gestational age	129563	DIS3L2	OMIM:267000
HP:0001520	Large for gestational age	4953	ODC1	OMIM:619075
HP:0001520	Large for gestational age	4953	ODC1	ORPHA:544488
HP:0001520	Large for gestational age	8036	SHOC2	OMIM:607721
HP:0001520	Large for gestational age	8925	HERC1	OMIM:617011
HP:0001520	Large for gestational age	8925	HERC1	ORPHA:457359
HP:0001520	Large for gestational age	388015	RTL1	ORPHA:254534
HP:0001520	Large for gestational age	388015	RTL1	ORPHA:96334
HP:0001520	Large for gestational age	8788	DLK1	ORPHA:254534
HP:0001520	Large for gestational age	8788	DLK1	ORPHA:96334
HP:0001520	Large for gestational age	55384	MEG3	ORPHA:254534
HP:0001520	Large for gestational age	55384	MEG3	ORPHA:96334
HP:0001520	Large for gestational age	5728	PTEN	OMIM:605309
HP:0001520	Large for gestational age	51604	PIGT	OMIM:615398
HP:0001520	Large for gestational age	9158	FIBP	ORPHA:500095
HP:0001520	Large for gestational age	9158	FIBP	OMIM:617107
HP:0001520	Large for gestational age	6016	RIT1	OMIM:615355
HP:0001520	Large for gestational age	84282	RNF135	ORPHA:137634
HP:0001520	Large for gestational age	5894	RAF1	OMIM:611553
HP:0001520	Large for gestational age	54499	TMCO1	OMIM:213980
HP:0001520	Large for gestational age	274	BIN1	ORPHA:169189
HP:0001520	Large for gestational age	64419	MTMR14	ORPHA:169189
HP:0001520	Large for gestational age	4618	MYF6	ORPHA:169189
HP:0001520	Large for gestational age	1785	DNM2	ORPHA:169189
HP:0001520	Large for gestational age	6261	RYR1	ORPHA:169189
HP:0001520	Large for gestational age	10060	ABCC9	OMIM:239850
HP:0001520	Large for gestational age	23405	DICER1	OMIM:618272
HP:0001520	Large for gestational age	79813	EHMT1	ORPHA:261652
HP:0001520	Large for gestational age	79813	EHMT1	OMIM:610253
HP:0001520	Large for gestational age	58508	KMT2C	ORPHA:261652
HP:0001520	Large for gestational age	288	ANK3	ORPHA:356996
HP:0001520	Large for gestational age	673	BRAF	OMIM:613706
HP:0001520	Large for gestational age	23556	PIGN	OMIM:614080
HP:0001520	Large for gestational age	9487	PIGL	OMIM:280000
HP:0001520	Large for gestational age	51684	SUFU	OMIM:617757
HP:0001520	Large for gestational age	208	AKT2	ORPHA:293964
HP:0001520	Large for gestational age	208	AKT2	OMIM:240900
HP:0001520	Large for gestational age	80173	IFT74	OMIM:617119
HP:0001520	Large for gestational age	5727	PTCH1	ORPHA:77301
HP:0001520	Large for gestational age	139886	SPIN4	OMIM:301114
HP:0001520	Large for gestational age	1910	EDNRB	OMIM:600501
HP:0001520	Large for gestational age	5277	PIGA	OMIM:300868
HP:0001520	Large for gestational age	7543	ZFX	OMIM:301118
HP:0001520	Large for gestational age	3340	NDST1	OMIM:616116
HP:0001520	Large for gestational age	2475	MTOR	ORPHA:457485
HP:0001520	Large for gestational age	2475	MTOR	OMIM:616638
HP:0001520	Large for gestational age	7351	UCP2	ORPHA:276556
HP:0001520	Large for gestational age	6654	SOS1	OMIM:610733
HP:0001522	Death in infancy	83483	PLVAP	OMIM:618183
HP:0001522	Death in infancy	10128	LRPPRC	OMIM:220111
HP:0001522	Death in infancy	199857	ALG14	OMIM:619036
HP:0001522	Death in infancy	79717	PPCS	OMIM:618189
HP:0001522	Death in infancy	3551	IKBKB	OMIM:615592
HP:0001522	Death in infancy	341640	FREM2	ORPHA:2052
HP:0001522	Death in infancy	80144	FRAS1	ORPHA:2052
HP:0001522	Death in infancy	23426	GRIP1	ORPHA:2052
HP:0001522	Death in infancy	8425	LTBP4	OMIM:613177
HP:0001522	Death in infancy	83700	JAM3	OMIM:613730
HP:0001522	Death in infancy	10059	DNM1L	OMIM:614388
HP:0001522	Death in infancy	55627	SMPD4	OMIM:618622
HP:0001522	Death in infancy	58	ACTA1	OMIM:620265
HP:0001522	Death in infancy	58	ACTA1	OMIM:620278
HP:0001522	Death in infancy	10667	FARS2	OMIM:614946
HP:0001522	Death in infancy	51	ACOX1	ORPHA:2971
HP:0001522	Death in infancy	2731	GLDC	OMIM:605899
HP:0001522	Death in infancy	4072	EPCAM	ORPHA:144
HP:0001522	Death in infancy	4292	MLH1	ORPHA:144
HP:0001522	Death in infancy	5395	PMS2	ORPHA:144
HP:0001522	Death in infancy	7048	TGFBR2	ORPHA:144
HP:0001522	Death in infancy	3845	KRAS	ORPHA:144
HP:0001522	Death in infancy	5290	PIK3CA	ORPHA:144
HP:0001522	Death in infancy	2956	MSH6	ORPHA:144
HP:0001522	Death in infancy	5378	PMS1	ORPHA:144
HP:0001522	Death in infancy	4436	MSH2	ORPHA:144
HP:0001522	Death in infancy	54968	TMEM70	ORPHA:1194
HP:0001522	Death in infancy	249	ALPL	OMIM:241500
HP:0001522	Death in infancy	65993	MRPS34	OMIM:617664
HP:0001522	Death in infancy	80816	ASXL3	OMIM:615485
HP:0001522	Death in infancy	1352	COX10	OMIM:619046
HP:0001522	Death in infancy	387787	LIPT2	OMIM:617668
HP:0001522	Death in infancy	4056	LTC4S	OMIM:614037
HP:0001522	Death in infancy	1785	DNM2	OMIM:615368
HP:0001522	Death in infancy	477	ATP1A2	OMIM:619605
HP:0001522	Death in infancy	2670	GFAP	OMIM:203450
HP:0001522	Death in infancy	2137	EXTL3	OMIM:617425
HP:0001522	Death in infancy	10084	PQBP1	ORPHA:93946
HP:0001522	Death in infancy	5979	RET	ORPHA:99803
HP:0001522	Death in infancy	429	ASCL1	ORPHA:99803
HP:0001522	Death in infancy	8929	PHOX2B	ORPHA:99803
HP:0001522	Death in infancy	1410	CRYAB	OMIM:613869
HP:0001522	Death in infancy	1353	COX11	OMIM:620275
HP:0001522	Death in infancy	3988	LIPA	OMIM:620151
HP:0001522	Death in infancy	3988	LIPA	OMIM:278000
HP:0001522	Death in infancy	6439	SFTPB	OMIM:265120
HP:0001522	Death in infancy	7259	TSPYL1	ORPHA:168593
HP:0001522	Death in infancy	55687	TRMU	OMIM:613070
HP:0001522	Death in infancy	100131801	PET100	OMIM:619055
HP:0001522	Death in infancy	3899	AFF3	OMIM:619297
HP:0001522	Death in infancy	1020	CDK5	OMIM:616342
HP:0001522	Death in infancy	150094	SIK1	OMIM:616341
HP:0001522	Death in infancy	1272	CNTN1	OMIM:612540
HP:0001522	Death in infancy	84876	ORAI1	OMIM:612782
HP:0001522	Death in infancy	6773	STAT2	OMIM:618886
HP:0001522	Death in infancy	1801	DPH1	OMIM:616901
HP:0001522	Death in infancy	8792	TNFRSF11A	OMIM:612301
HP:0001522	Death in infancy	55681	SCYL2	OMIM:618766
HP:0001522	Death in infancy	64359	NXN	ORPHA:1507
HP:0001522	Death in infancy	4920	ROR2	ORPHA:1507
HP:0001522	Death in infancy	21	ABCA3	OMIM:610921
HP:0001522	Death in infancy	546	ATRX	ORPHA:847
HP:0001522	Death in infancy	54675	CRLS1	OMIM:620167
HP:0001522	Death in infancy	8802	SUCLG1	OMIM:245400
HP:0001522	Death in infancy	1717	DHCR7	OMIM:270400
HP:0001522	Death in infancy	9377	COX5A	OMIM:619064
HP:0001522	Death in infancy	118429	ANTXR2	ORPHA:2028
HP:0001522	Death in infancy	388962	BOLA3	OMIM:614299
HP:0001522	Death in infancy	4632	MYL1	OMIM:618414
HP:0001522	Death in infancy	63894	VIPAS39	OMIM:613404
HP:0001522	Death in infancy	79053	ALG8	OMIM:608104
HP:0001522	Death in infancy	1174	AP1S1	OMIM:609313
HP:0001522	Death in infancy	5373	PMM2	OMIM:212065
HP:0001522	Death in infancy	63901	FAM111A	OMIM:602361
HP:0001522	Death in infancy	26154	ABCA12	OMIM:242500
HP:0001522	Death in infancy	57217	TTC7A	OMIM:243150
HP:0001522	Death in infancy	2629	GBA1	ORPHA:85212
HP:0001522	Death in infancy	2629	GBA1	OMIM:230900
HP:0001522	Death in infancy	65080	MRPL44	OMIM:615395
HP:0001522	Death in infancy	5190	PEX6	OMIM:614862
HP:0001522	Death in infancy	5190	PEX6	ORPHA:912
HP:0001522	Death in infancy	9255	AIMP1	OMIM:260600
HP:0001522	Death in infancy	5828	PEX2	OMIM:614866
HP:0001522	Death in infancy	5828	PEX2	ORPHA:912
HP:0001522	Death in infancy	10013	HDAC6	ORPHA:163966
HP:0001522	Death in infancy	8021	NUP214	OMIM:618426
HP:0001522	Death in infancy	128674	PROKR2	ORPHA:95496
HP:0001522	Death in infancy	89884	LHX4	ORPHA:95496
HP:0001522	Death in infancy	55717	WDR11	ORPHA:95496
HP:0001522	Death in infancy	6091	ROBO1	ORPHA:95496
HP:0001522	Death in infancy	8820	HESX1	ORPHA:95496
HP:0001522	Death in infancy	50937	CDON	ORPHA:95496
HP:0001522	Death in infancy	23432	GPR161	ORPHA:95496
HP:0001522	Death in infancy	23474	ETHE1	OMIM:602473
HP:0001522	Death in infancy	84992	PIGY	OMIM:616809
HP:0001522	Death in infancy	51611	DPH5	OMIM:620070
HP:0001522	Death in infancy	6628	SNRPB	ORPHA:1393
HP:0001522	Death in infancy	8818	DPM2	OMIM:615042
HP:0001522	Death in infancy	9321	TRIP11	OMIM:184260
HP:0001522	Death in infancy	9321	TRIP11	ORPHA:166272
HP:0001522	Death in infancy	10436	EMG1	ORPHA:1270
HP:0001522	Death in infancy	57169	ZNFX1	OMIM:619644
HP:0001522	Death in infancy	55670	PEX26	OMIM:614872
HP:0001522	Death in infancy	55670	PEX26	ORPHA:912
HP:0001522	Death in infancy	28976	ACAD9	OMIM:611126
HP:0001522	Death in infancy	9409	PEX16	OMIM:614876
HP:0001522	Death in infancy	9409	PEX16	ORPHA:912
HP:0001522	Death in infancy	25802	LMOD1	ORPHA:2241
HP:0001522	Death in infancy	4629	MYH11	ORPHA:2241
HP:0001522	Death in infancy	72	ACTG2	ORPHA:2241
HP:0001522	Death in infancy	4638	MYLK	ORPHA:2241
HP:0001522	Death in infancy	917	CD3G	OMIM:615607
HP:0001522	Death in infancy	2239	GPC4	ORPHA:373
HP:0001522	Death in infancy	2719	GPC3	ORPHA:373
HP:0001522	Death in infancy	4000	LMNA	ORPHA:157973
HP:0001522	Death in infancy	6603	SMARCD2	OMIM:617475
HP:0001522	Death in infancy	729920	CRPPA	OMIM:614643
HP:0001522	Death in infancy	8504	PEX3	OMIM:614882
HP:0001522	Death in infancy	8504	PEX3	ORPHA:912
HP:0001522	Death in infancy	54916	TMEM260	OMIM:617478
HP:0001522	Death in infancy	2261	FGFR3	OMIM:100800
HP:0001522	Death in infancy	2720	GLB1	OMIM:230500
HP:0001522	Death in infancy	3339	HSPG2	ORPHA:800
HP:0001522	Death in infancy	3914	LAMB3	OMIM:226700
HP:0001522	Death in infancy	3918	LAMC2	OMIM:226700
HP:0001522	Death in infancy	3918	LAMC2	OMIM:619786
HP:0001522	Death in infancy	3909	LAMA3	OMIM:226700
HP:0001522	Death in infancy	3909	LAMA3	OMIM:619784
HP:0001522	Death in infancy	27247	NFU1	OMIM:605711
HP:0001522	Death in infancy	57505	AARS2	OMIM:614096
HP:0001522	Death in infancy	51645	PPIL1	OMIM:619301
HP:0001522	Death in infancy	205327	C2orf69	OMIM:619423
HP:0001522	Death in infancy	51362	CDC40	OMIM:619302
HP:0001522	Death in infancy	4633	MYL2	OMIM:619424
HP:0001522	Death in infancy	91137	SLC25A46	OMIM:619303
HP:0001522	Death in infancy	1892	ECHS1	OMIM:616277
HP:0001522	Death in infancy	133686	NADK2	OMIM:616034
HP:0001522	Death in infancy	51025	PAM16	OMIM:613320
HP:0001522	Death in infancy	27429	HTRA2	OMIM:617248
HP:0001522	Death in infancy	57724	EPG5	ORPHA:1493
HP:0001522	Death in infancy	5824	PEX19	ORPHA:912
HP:0001522	Death in infancy	8799	PEX11B	ORPHA:912
HP:0001522	Death in infancy	5830	PEX5	ORPHA:912
HP:0001522	Death in infancy	5189	PEX1	ORPHA:912
HP:0001522	Death in infancy	5193	PEX12	ORPHA:912
HP:0001522	Death in infancy	5194	PEX13	ORPHA:912
HP:0001522	Death in infancy	5195	PEX14	ORPHA:912
HP:0001522	Death in infancy	5192	PEX10	ORPHA:912
HP:0001522	Death in infancy	56052	ALG1	OMIM:608540
HP:0001522	Death in infancy	9488	PIGB	OMIM:618580
HP:0001522	Death in infancy	91949	COG7	OMIM:608779
HP:0001522	Death in infancy	2266	FGG	OMIM:202400
HP:0001522	Death in infancy	2243	FGA	OMIM:202400
HP:0001522	Death in infancy	2244	FGB	OMIM:202400
HP:0001522	Death in infancy	10112	KIF20A	OMIM:619433
HP:0001522	Death in infancy	3691	ITGB4	OMIM:226730
HP:0001522	Death in infancy	5339	PLEC	OMIM:226730
HP:0001522	Death in infancy	112	ADCY6	OMIM:616287
HP:0001522	Death in infancy	2187	FANCB	OMIM:300514
HP:0001522	Death in infancy	56203	LMOD3	OMIM:616165
HP:0001522	Death in infancy	7167	TPI1	OMIM:615512
HP:0001522	Death in infancy	100151683	RNU4ATAC	OMIM:210710
HP:0001522	Death in infancy	9526	MPDU1	OMIM:609180
HP:0001522	Death in infancy	4729	NDUFV2	OMIM:618229
HP:0001522	Death in infancy	3032	HADHB	OMIM:620300
HP:0001522	Death in infancy	10102	TSFM	OMIM:610505
HP:0001522	Death in infancy	256297	PTF1A	OMIM:609069
HP:0001522	Death in infancy	56945	MRPS22	OMIM:611719
HP:0001522	Death in infancy	283989	TSEN54	OMIM:225753
HP:0001522	Death in infancy	4695	NDUFA2	OMIM:618235
HP:0001522	Death in infancy	6809	STX3	OMIM:619446
HP:0001522	Death in infancy	51601	LIPT1	OMIM:616299
HP:0001522	Death in infancy	54931	TRMT10C	OMIM:616974
HP:0001522	Death in infancy	79631	EFL1	OMIM:617941
HP:0001522	Death in infancy	5660	PSAP	ORPHA:139406
HP:0001522	Death in infancy	5660	PSAP	OMIM:611721
HP:0001522	Death in infancy	5660	PSAP	OMIM:611722
HP:0001522	Death in infancy	29968	PSAT1	OMIM:610992
HP:0001522	Death in infancy	145873	MESP2	OMIM:277300
HP:0001522	Death in infancy	10683	DLL3	OMIM:277300
HP:0001522	Death in infancy	4952	OCRL	ORPHA:534
HP:0001522	Death in infancy	56975	FAM20C	OMIM:259775
HP:0001522	Death in infancy	170302	ARX	ORPHA:452
HP:0001522	Death in infancy	5980	REV3L	ORPHA:570
HP:0001522	Death in infancy	23129	PLXND1	ORPHA:570
HP:0001522	Death in infancy	4703	NEB	OMIM:619334
HP:0001522	Death in infancy	537	ATP6AP1	OMIM:300972
HP:0001522	Death in infancy	25915	NDUFAF3	OMIM:618240
HP:0001522	Death in infancy	4998	ORC1	OMIM:224690
HP:0001522	Death in infancy	7019	TFAM	OMIM:617156
HP:0001522	Death in infancy	2068	ERCC2	ORPHA:1466
HP:0001522	Death in infancy	2068	ERCC2	OMIM:601675
HP:0001522	Death in infancy	2067	ERCC1	ORPHA:1466
HP:0001522	Death in infancy	2074	ERCC6	ORPHA:1466
HP:0001522	Death in infancy	2073	ERCC5	ORPHA:1466
HP:0001522	Death in infancy	7965	AIMP2	OMIM:618006
HP:0001522	Death in infancy	80746	TSEN2	OMIM:612389
HP:0001522	Death in infancy	2917	GRM7	OMIM:618922
HP:0001522	Death in infancy	22845	DOLK	OMIM:610768
HP:0001522	Death in infancy	64093	SMOC1	ORPHA:1106
HP:0001522	Death in infancy	197131	UBR1	ORPHA:2315
HP:0001522	Death in infancy	6821	SUOX	OMIM:272300
HP:0001522	Death in infancy	1641	DCX	OMIM:300067
HP:0001522	Death in infancy	6329	SCN4A	ORPHA:682
HP:0001522	Death in infancy	26276	VPS33B	OMIM:208085
HP:0001522	Death in infancy	5631	PRPS1	OMIM:301835
HP:0001522	Death in infancy	3977	LIFR	OMIM:601559
HP:0001522	Death in infancy	4905	NSF	OMIM:619340
HP:0001522	Death in infancy	5277	PIGA	OMIM:300868
HP:0001522	Death in infancy	57511	COG6	OMIM:614576
HP:0001522	Death in infancy	9971	NR1H4	OMIM:617049
HP:0001522	Death in infancy	9419	CRIPT	OMIM:615789
HP:0001522	Death in infancy	2313	FLI1	ORPHA:2308
HP:0001522	Death in infancy	60386	SLC25A19	ORPHA:99742
HP:0001522	Death in infancy	8200	GDF5	OMIM:200700
HP:0001522	Death in infancy	8200	GDF5	ORPHA:2098
HP:0001522	Death in infancy	9997	SCO2	OMIM:604377
HP:0001522	Death in infancy	7490	WT1	OMIM:608978
HP:0001522	Death in infancy	80347	COASY	OMIM:618266
HP:0001522	Death in infancy	51241	COX16	OMIM:619355
HP:0001522	Death in infancy	37	ACADVL	OMIM:201475
HP:0001522	Death in infancy	3852	KRT5	OMIM:619599
HP:0001522	Death in infancy	1861	TOR1A	OMIM:618947
HP:0001522	Death in infancy	29957	SLC25A24	OMIM:612289
HP:0001522	Death in infancy	8087	FXR1	OMIM:618822
HP:0001522	Death in infancy	3704	ITPA	OMIM:616647
HP:0001522	Death in infancy	6608	SMO	OMIM:241800
HP:0001522	Death in infancy	658	BMPR1B	ORPHA:2098
HP:0001522	Death in infancy	3425	IDUA	ORPHA:93473
HP:0001522	Death in infancy	51360	MBTPS2	OMIM:308205
HP:0001522	Death in infancy	8567	MADD	OMIM:619004
HP:0001522	Death in infancy	291	SLC25A4	OMIM:617184
HP:0001522	Death in infancy	60528	ELAC2	OMIM:615440
HP:0001522	Death in infancy	55278	QRSL1	OMIM:618835
HP:0001522	Death in infancy	7284	TUFM	OMIM:610678
HP:0001522	Death in infancy	4645	MYO5B	OMIM:251850
HP:0001522	Death in infancy	283459	GATC	OMIM:618839
HP:0001522	Death in infancy	1376	CPT2	OMIM:608836
HP:0001522	Death in infancy	57158	JPH2	OMIM:619492
HP:0001522	Death in infancy	6123	RPL3L	OMIM:619371
HP:0001522	Death in infancy	10577	NPC2	OMIM:607625
HP:0001522	Death in infancy	1836	SLC26A2	OMIM:256050
HP:0001522	Death in infancy	5889	RAD51C	OMIM:613390
HP:0001522	Death in infancy	57020	VPS35L	OMIM:619135
HP:0001522	Death in infancy	57020	VPS35L	ORPHA:7
HP:0001522	Death in infancy	29954	POMT2	OMIM:613150
HP:0001522	Death in infancy	4938	OAS1	OMIM:618042
HP:0001522	Death in infancy	27040	LAT	OMIM:617514
HP:0001522	Death in infancy	4724	NDUFS4	OMIM:252010
HP:0001522	Death in infancy	10491	CRTAP	OMIM:610682
HP:0001522	Death in infancy	55005	RMND1	OMIM:614922
HP:0001522	Death in infancy	55191	NADSYN1	OMIM:618845
HP:0001522	Death in infancy	10225	CD96	ORPHA:1308
HP:0001522	Death in infancy	9939	RBM8A	OMIM:274000
HP:0001522	Death in infancy	23529	CLCF1	ORPHA:1545
HP:0001522	Death in infancy	9244	CRLF1	ORPHA:1545
HP:0001522	Death in infancy	9897	WASHC5	ORPHA:7
HP:0001522	Death in infancy	28952	CCDC22	ORPHA:7
HP:0001522	Death in infancy	56896	DPYSL5	ORPHA:7
HP:0001522	Death in infancy	9054	NFS1	OMIM:619386
HP:0001522	Death in infancy	4893	NRAS	OMIM:249400
HP:0001522	Death in infancy	221927	BRAT1	OMIM:614498
HP:0001522	Death in infancy	131377	KLHL40	OMIM:615348
HP:0001522	Death in infancy	255758	DYNLT2B	OMIM:617405
HP:0000098	Tall stature	6535	SLC6A8	OMIM:300352
HP:0000098	Tall stature	8925	HERC1	OMIM:617011
HP:0000098	Tall stature	5351	PLOD1	OMIM:225400
HP:0000098	Tall stature	23019	CNOT1	OMIM:619033
HP:0000098	Tall stature	79912	PYROXD1	OMIM:617258
HP:0000098	Tall stature	84282	RNF135	ORPHA:137634
HP:0000098	Tall stature	1788	DNMT3A	OMIM:615879
HP:0000098	Tall stature	85358	SHANK3	OMIM:606232
HP:0000098	Tall stature	2202	EFEMP1	OMIM:620780
HP:0000098	Tall stature	64324	NSD1	ORPHA:821
HP:0000098	Tall stature	64324	NSD1	OMIM:117550
HP:0000098	Tall stature	64324	NSD1	ORPHA:3447
HP:0000098	Tall stature	10297	APC2	ORPHA:821
HP:0000098	Tall stature	2200	FBN1	OMIM:129600
HP:0000098	Tall stature	2200	FBN1	OMIM:154700
HP:0000098	Tall stature	2200	FBN1	OMIM:616914
HP:0000098	Tall stature	2200	FBN1	ORPHA:91387
HP:0000098	Tall stature	2737	GLI3	ORPHA:36
HP:0000098	Tall stature	374654	KIF7	ORPHA:36
HP:0000098	Tall stature	2099	ESR1	ORPHA:785
HP:0000098	Tall stature	473	RERE	OMIM:616975
HP:0000098	Tall stature	2261	FGFR3	OMIM:610474
HP:0000098	Tall stature	23524	SRRM2	OMIM:620439
HP:0000098	Tall stature	4882	NPR2	OMIM:615923
HP:0000098	Tall stature	129563	DIS3L2	ORPHA:2849
HP:0000098	Tall stature	22954	TRIM32	ORPHA:1878
HP:0000098	Tall stature	5573	PRKAR1A	ORPHA:1359
HP:0000098	Tall stature	50940	PDE11A	ORPHA:1359
HP:0000098	Tall stature	4784	NFIX	OMIM:602535
HP:0000098	Tall stature	4784	NFIX	ORPHA:420179
HP:0000098	Tall stature	80204	FBXO11	OMIM:618089
HP:0000098	Tall stature	4160	MC4R	OMIM:618406
HP:0000098	Tall stature	55109	AGGF1	ORPHA:90308
HP:0000098	Tall stature	5290	PIK3CA	ORPHA:90308
HP:0000098	Tall stature	5290	PIK3CA	ORPHA:168984
HP:0000098	Tall stature	3973	LHCGR	ORPHA:3000
HP:0000098	Tall stature	2248	FGF3	ORPHA:90024
HP:0000098	Tall stature	10555	AGPAT2	OMIM:608594
HP:0000098	Tall stature	8726	EED	OMIM:617561
HP:0000098	Tall stature	5159	PDGFRB	OMIM:616592
HP:0000098	Tall stature	79813	EHMT1	OMIM:610253
HP:0000098	Tall stature	51715	RAB23	ORPHA:65759
HP:0000098	Tall stature	1954	MEGF8	ORPHA:65759
HP:0000098	Tall stature	9487	PIGL	ORPHA:3474
HP:0000098	Tall stature	6874	TAF4	OMIM:620450
HP:0000098	Tall stature	1588	CYP19A1	ORPHA:91
HP:0000098	Tall stature	595	CCND1	ORPHA:29073
HP:0000098	Tall stature	4158	MC2R	OMIM:202200
HP:0000098	Tall stature	4158	MC2R	ORPHA:361
HP:0000098	Tall stature	65109	UPF3B	OMIM:300676
HP:0000098	Tall stature	23512	SUZ12	OMIM:618786
HP:0000098	Tall stature	23512	SUZ12	ORPHA:3447
HP:0000098	Tall stature	26580	BSCL2	OMIM:269700
HP:0000098	Tall stature	57680	CHD8	OMIM:615032
HP:0000098	Tall stature	5048	PAFAH1B1	ORPHA:217385
HP:0000098	Tall stature	7531	YWHAE	ORPHA:217385
HP:0000098	Tall stature	9968	MED12	OMIM:309520
HP:0000098	Tall stature	5728	PTEN	ORPHA:109
HP:0000098	Tall stature	6736	SRY	OMIM:400044
HP:0000098	Tall stature	6736	SRY	OMIM:400045
HP:0000098	Tall stature	715	C1R	OMIM:130080
HP:0000098	Tall stature	6942	TCF20	OMIM:618430
HP:0000098	Tall stature	9158	FIBP	OMIM:617107
HP:0000098	Tall stature	4221	MEN1	ORPHA:99725
HP:0000098	Tall stature	9049	AIP	ORPHA:99725
HP:0000098	Tall stature	2239	GPC4	ORPHA:373
HP:0000098	Tall stature	2239	GPC4	OMIM:312870
HP:0000098	Tall stature	2719	GPC3	ORPHA:373
HP:0000098	Tall stature	2719	GPC3	OMIM:312870
HP:0000098	Tall stature	6709	SPTAN1	OMIM:620528
HP:0000098	Tall stature	6611	SMS	OMIM:309583
HP:0000098	Tall stature	4087	SMAD2	OMIM:619656
HP:0000098	Tall stature	4087	SMAD2	ORPHA:60030
HP:0000098	Tall stature	4087	SMAD2	ORPHA:91387
HP:0000098	Tall stature	51684	SUFU	OMIM:617757
HP:0000098	Tall stature	875	CBS	OMIM:236200
HP:0000098	Tall stature	2146	EZH2	ORPHA:3447
HP:0000098	Tall stature	5727	PTCH1	ORPHA:77301
HP:0000098	Tall stature	56246	MRAP	ORPHA:361
HP:0000098	Tall stature	6770	STAR	ORPHA:361
HP:0000098	Tall stature	23530	NNT	ORPHA:361
HP:0000098	Tall stature	10587	TXNRD2	ORPHA:361
HP:0000098	Tall stature	4038	LRP4	ORPHA:3152
HP:0000098	Tall stature	50964	SOST	ORPHA:3152
HP:0000098	Tall stature	4883	NPR3	OMIM:619543
HP:0000098	Tall stature	18	ABAT	OMIM:613163
HP:0000098	Tall stature	7043	TGFB3	OMIM:615582
HP:0000098	Tall stature	7043	TGFB3	ORPHA:60030
HP:0000098	Tall stature	7043	TGFB3	ORPHA:91387
HP:0000098	Tall stature	83550	GPR101	OMIM:300942
HP:0000098	Tall stature	7046	TGFBR1	ORPHA:60030
HP:0000098	Tall stature	7046	TGFBR1	ORPHA:91387
HP:0000098	Tall stature	10526	IPO8	ORPHA:60030
HP:0000098	Tall stature	7048	TGFBR2	ORPHA:60030
HP:0000098	Tall stature	7048	TGFBR2	ORPHA:91387
HP:0000098	Tall stature	7042	TGFB2	ORPHA:60030
HP:0000098	Tall stature	7042	TGFB2	OMIM:614816
HP:0000098	Tall stature	7042	TGFB2	ORPHA:91387
HP:0000098	Tall stature	4088	SMAD3	ORPHA:60030
HP:0000098	Tall stature	4088	SMAD3	ORPHA:91387
HP:0000098	Tall stature	367	AR	ORPHA:99429
HP:0000098	Tall stature	4629	MYH11	ORPHA:91387
HP:0000098	Tall stature	4015	LOX	ORPHA:91387
HP:0000098	Tall stature	4089	SMAD4	ORPHA:91387
HP:0000098	Tall stature	59	ACTA2	ORPHA:91387
HP:0000098	Tall stature	5592	PRKG1	ORPHA:91387
HP:0000098	Tall stature	2301	FOXE3	ORPHA:91387
HP:0000098	Tall stature	4144	MAT2A	ORPHA:91387
HP:0000098	Tall stature	23493	HEY2	ORPHA:91387
HP:0000098	Tall stature	8076	MFAP5	ORPHA:91387
HP:0000098	Tall stature	4638	MYLK	ORPHA:91387
HP:0000098	Tall stature	79875	THSD4	ORPHA:91387
HP:0000098	Tall stature	2006	ELN	ORPHA:91387
HP:0000098	Tall stature	5979	RET	OMIM:162300
HP:0000098	Tall stature	51114	ZDHHC9	OMIM:300799
HP:0000098	Tall stature	51114	ZDHHC9	ORPHA:776
HP:0000098	Tall stature	84627	ZNF469	OMIM:229200
HP:0000098	Tall stature	652	BMP4	ORPHA:828
HP:0000098	Tall stature	3248	HPGD	OMIM:259100
HP:0000098	Tall stature	1280	COL2A1	OMIM:108300
HP:0000098	Tall stature	207	AKT1	ORPHA:744
HP:0000098	Tall stature	5447	POR	ORPHA:95699
HP:0000098	Tall stature	4125	MAN2B1	ORPHA:309282
HP:0000098	Tall stature	1278	COL1A2	ORPHA:230851
HP:0000098	Tall stature	80816	ASXL3	OMIM:615485
HP:0000098	Tall stature	80816	ASXL3	ORPHA:352577
HP:0000098	Tall stature	1742	DLG4	OMIM:618793
HP:0000098	Tall stature	2201	FBN2	OMIM:121050
HP:0000098	Tall stature	2201	FBN2	ORPHA:115
HP:0000098	Tall stature	55033	FKBP14	ORPHA:300179
HP:0000098	Tall stature	113189	CHST14	ORPHA:2953
HP:0000098	Tall stature	29940	DSE	ORPHA:2953
HP:0000098	Tall stature	10815	CPLX1	ORPHA:280
HP:0000098	Tall stature	54872	PIGG	ORPHA:280
HP:0000098	Tall stature	7469	NELFA	ORPHA:280
HP:0000098	Tall stature	1487	CTBP1	ORPHA:280
HP:0000098	Tall stature	3954	LETM1	ORPHA:280
HP:0000098	Tall stature	7468	NSD2	ORPHA:280
HP:0000098	Tall stature	79576	NKAP	OMIM:301039
HP:0000098	Tall stature	523	ATP6V1A	OMIM:617403
HP:0000098	Tall stature	23395	LARS2	OMIM:615300
HP:0000098	Tall stature	529	ATP6V1E1	OMIM:617402
HP:0000098	Tall stature	4841	NONO	ORPHA:466791
HP:0000098	Tall stature	4841	NONO	OMIM:300967
HP:0000098	Tall stature	50814	NSDHL	OMIM:300831
HP:0000098	Tall stature	50814	NSDHL	ORPHA:251383
HP:0000098	Tall stature	2892	GRIA3	OMIM:300699
HP:0000098	Tall stature	2892	GRIA3	ORPHA:364028
HP:0000098	Tall stature	1291	COL6A1	OMIM:254090
HP:0000098	Tall stature	284058	KANSL1	ORPHA:363958
HP:0000098	Tall stature	284058	KANSL1	ORPHA:363965
HP:0000098	Tall stature	1763	DNA2	OMIM:615156
HP:0000098	Tall stature	1763	DNA2	ORPHA:352470
HP:0000098	Tall stature	7040	TGFB1	OMIM:131300
HP:0000098	Tall stature	7040	TGFB1	ORPHA:1328
HP:0000098	Tall stature	84665	MYPN	ORPHA:171439
HP:0000098	Tall stature	58	ACTA1	ORPHA:171439
HP:0000098	Tall stature	58	ACTA1	OMIM:161800
HP:0000098	Tall stature	7169	TPM2	ORPHA:171439
HP:0000098	Tall stature	390594	KBTBD13	ORPHA:171439
HP:0000098	Tall stature	4703	NEB	ORPHA:171439
HP:0000098	Tall stature	4703	NEB	OMIM:256030
HP:0000098	Tall stature	4703	NEB	ORPHA:399103
HP:0000098	Tall stature	10324	KLHL41	ORPHA:171439
HP:0000098	Tall stature	7170	TPM3	ORPHA:171439
HP:0000098	Tall stature	1890	TYMP	OMIM:603041
HP:0000098	Tall stature	5428	POLG	OMIM:603041
HP:0000098	Tall stature	5428	POLG	OMIM:613662
HP:0000098	Tall stature	10056	FARSB	OMIM:613658
HP:0000098	Tall stature	7138	TNNT1	OMIM:620389
HP:0000098	Tall stature	7486	WRN	ORPHA:902
HP:0000098	Tall stature	92335	STRADA	OMIM:611087
HP:0000098	Tall stature	23152	CIC	OMIM:617600
HP:0000098	Tall stature	6301	SARS1	OMIM:617709
HP:0000098	Tall stature	10382	TUBB4A	OMIM:128101
HP:0000098	Tall stature	92609	TIMM50	ORPHA:505216
HP:0000098	Tall stature	11128	POLR3A	ORPHA:3455
HP:0000098	Tall stature	388015	RTL1	ORPHA:254534
HP:0000098	Tall stature	388015	RTL1	ORPHA:96334
HP:0000098	Tall stature	8788	DLK1	ORPHA:254534
HP:0000098	Tall stature	8788	DLK1	ORPHA:96334
HP:0000098	Tall stature	55384	MEG3	ORPHA:254534
HP:0000098	Tall stature	55384	MEG3	ORPHA:96334
HP:0000098	Tall stature	4893	NRAS	OMIM:163200
HP:0000098	Tall stature	3845	KRAS	OMIM:163200
HP:0000098	Tall stature	3265	HRAS	OMIM:163200
HP:0000098	Tall stature	3265	HRAS	OMIM:218040
HP:0000098	Tall stature	3190	HNRNPK	ORPHA:453504
HP:0000098	Tall stature	3190	HNRNPK	ORPHA:352665
HP:0000098	Tall stature	23405	DICER1	OMIM:618272
HP:0000098	Tall stature	58508	KMT2C	ORPHA:261652
HP:0000098	Tall stature	3021	H3-3B	OMIM:619721
HP:0000098	Tall stature	30008	EFEMP2	OMIM:614437
HP:0000098	Tall stature	29072	SETD2	OMIM:620157
HP:0000098	Tall stature	29072	SETD2	OMIM:620155
HP:0000098	Tall stature	29072	SETD2	OMIM:616831
HP:0000098	Tall stature	5296	PIK3R2	OMIM:603387
HP:0000098	Tall stature	4763	NF1	OMIM:162200
HP:0000098	Tall stature	3339	HSPG2	OMIM:224410
HP:0000098	Tall stature	54757	FAM20A	OMIM:204690
HP:0000098	Tall stature	1028	CDKN1C	OMIM:130650
HP:0000098	Tall stature	3481	IGF2	OMIM:130650
HP:0000098	Tall stature	3784	KCNQ1	OMIM:130650
HP:0000098	Tall stature	10984	KCNQ1OT1	OMIM:130650
HP:0000098	Tall stature	815	CAMK2A	OMIM:617798
HP:0000098	Tall stature	23229	ARHGEF9	OMIM:300607
HP:0000098	Tall stature	10516	FBLN5	OMIM:219100
HP:0000098	Tall stature	139886	SPIN4	OMIM:301114
HP:0000098	Tall stature	5277	PIGA	OMIM:300868
HP:0000098	Tall stature	5277	PIGA	OMIM:301072
HP:0000098	Tall stature	283450	HECTD4	OMIM:620250
HP:0000098	Tall stature	4534	MTM1	OMIM:310400
HP:0000098	Tall stature	1027	CDKN1B	ORPHA:652
HP:0000098	Tall stature	1026	CDKN1A	ORPHA:652
HP:0000098	Tall stature	1030	CDKN2B	ORPHA:652
HP:0000098	Tall stature	1031	CDKN2C	ORPHA:652
HP:0000098	Tall stature	5468	PPARG	ORPHA:528
HP:0000098	Tall stature	284119	CAVIN1	ORPHA:528
HP:0000098	Tall stature	2353	FOS	ORPHA:528
HP:0000098	Tall stature	857	CAV1	ORPHA:528
HP:0001528	Hemihypertrophy	5290	PIK3CA	OMIM:612918
HP:0001528	Hemihypertrophy	5290	PIK3CA	OMIM:613089
HP:0001528	Hemihypertrophy	5290	PIK3CA	ORPHA:140944
HP:0001528	Hemihypertrophy	5290	PIK3CA	ORPHA:168984
HP:0001528	Hemihypertrophy	374879	ZNF699	OMIM:619488
HP:0001528	Hemihypertrophy	54941	RNF125	OMIM:616260
HP:0001528	Hemihypertrophy	1028	CDKN1C	OMIM:130650
HP:0001528	Hemihypertrophy	3481	IGF2	OMIM:130650
HP:0001528	Hemihypertrophy	3481	IGF2	ORPHA:2128
HP:0001528	Hemihypertrophy	3784	KCNQ1	OMIM:130650
HP:0001528	Hemihypertrophy	10984	KCNQ1OT1	OMIM:130650
HP:0001528	Hemihypertrophy	10984	KCNQ1OT1	ORPHA:2128
HP:0001528	Hemihypertrophy	207	AKT1	OMIM:176920
HP:0001528	Hemihypertrophy	1788	DNMT3A	OMIM:615879
HP:0001528	Hemihypertrophy	208	AKT2	OMIM:240900
HP:0001528	Hemihypertrophy	208	AKT2	ORPHA:293964
HP:0001528	Hemihypertrophy	6928	HNF1B	ORPHA:1309
HP:0001528	Hemihypertrophy	4893	NRAS	OMIM:163200
HP:0001528	Hemihypertrophy	3845	KRAS	OMIM:163200
HP:0001528	Hemihypertrophy	3265	HRAS	OMIM:163200
HP:0001528	Hemihypertrophy	3265	HRAS	ORPHA:2874
HP:0001528	Hemihypertrophy	5978	REST	ORPHA:654
HP:0001528	Hemihypertrophy	129563	DIS3L2	ORPHA:654
HP:0001528	Hemihypertrophy	675	BRCA2	ORPHA:654
HP:0001528	Hemihypertrophy	9319	TRIP13	ORPHA:654
HP:0001528	Hemihypertrophy	7490	WT1	ORPHA:654
HP:0001528	Hemihypertrophy	10155	TRIM28	ORPHA:654
HP:0001528	Hemihypertrophy	11281	POU6F2	ORPHA:654
HP:0001528	Hemihypertrophy	2719	GPC3	ORPHA:654
HP:0001528	Hemihypertrophy	283120	H19	ORPHA:654
HP:0001528	Hemihypertrophy	283120	H19	ORPHA:2128
HP:0001528	Hemihypertrophy	60	ACTB	OMIM:620470
HP:0001528	Hemihypertrophy	5921	RASA1	ORPHA:90307
HP:0001533	Slender build	4841	NONO	ORPHA:466791
HP:0001533	Slender build	4841	NONO	OMIM:300967
HP:0001533	Slender build	8925	HERC1	ORPHA:457359
HP:0001533	Slender build	50814	NSDHL	OMIM:300831
HP:0001533	Slender build	50814	NSDHL	ORPHA:251383
HP:0001533	Slender build	2892	GRIA3	OMIM:300699
HP:0001533	Slender build	2892	GRIA3	ORPHA:364028
HP:0001533	Slender build	1291	COL6A1	OMIM:254090
HP:0001533	Slender build	65109	UPF3B	OMIM:300676
HP:0001533	Slender build	284058	KANSL1	ORPHA:363958
HP:0001533	Slender build	284058	KANSL1	ORPHA:363965
HP:0001533	Slender build	1763	DNA2	OMIM:615156
HP:0001533	Slender build	1763	DNA2	ORPHA:352470
HP:0001533	Slender build	7040	TGFB1	OMIM:131300
HP:0001533	Slender build	7040	TGFB1	ORPHA:1328
HP:0001533	Slender build	9968	MED12	ORPHA:93932
HP:0001533	Slender build	652	BMP4	ORPHA:828
HP:0001533	Slender build	84665	MYPN	ORPHA:171439
HP:0001533	Slender build	58	ACTA1	ORPHA:171439
HP:0001533	Slender build	58	ACTA1	OMIM:161800
HP:0001533	Slender build	7169	TPM2	ORPHA:171439
HP:0001533	Slender build	390594	KBTBD13	ORPHA:171439
HP:0001533	Slender build	4703	NEB	ORPHA:171439
HP:0001533	Slender build	4703	NEB	OMIM:256030
HP:0001533	Slender build	4703	NEB	ORPHA:399103
HP:0001533	Slender build	10324	KLHL41	ORPHA:171439
HP:0001533	Slender build	7170	TPM3	ORPHA:171439
HP:0001533	Slender build	1890	TYMP	OMIM:603041
HP:0001533	Slender build	5428	POLG	OMIM:603041
HP:0001533	Slender build	5428	POLG	OMIM:613662
HP:0001533	Slender build	10056	FARSB	OMIM:613658
HP:0001533	Slender build	7138	TNNT1	OMIM:620389
HP:0001533	Slender build	7486	WRN	ORPHA:902
HP:0001533	Slender build	92335	STRADA	OMIM:611087
HP:0001533	Slender build	23152	CIC	OMIM:617600
HP:0001533	Slender build	6301	SARS1	OMIM:617709
HP:0001533	Slender build	10382	TUBB4A	OMIM:128101
HP:0001533	Slender build	92609	TIMM50	ORPHA:505216
HP:0001533	Slender build	11128	POLR3A	ORPHA:3455
HP:0001533	Slender build	2201	FBN2	ORPHA:115
HP:0030895	Abnormal gastrointestinal motility	54809	SAMD9	OMIM:617053
HP:0030895	Abnormal gastrointestinal motility	2982	GUCY1A1	OMIM:615750
HP:0030895	Abnormal gastrointestinal motility	55699	IARS2	OMIM:616007
HP:0030895	Abnormal gastrointestinal motility	55699	IARS2	ORPHA:436174
HP:0030895	Abnormal gastrointestinal motility	6774	STAT3	OMIM:615952
HP:0030895	Abnormal gastrointestinal motility	10625	IVNS1ABP	OMIM:618969
HP:0030895	Abnormal gastrointestinal motility	29926	GMPPA	OMIM:615510
HP:0030895	Abnormal gastrointestinal motility	29926	GMPPA	ORPHA:869
HP:0030895	Abnormal gastrointestinal motility	60684	TRAPPC11	OMIM:615356
HP:0030895	Abnormal gastrointestinal motility	60684	TRAPPC11	ORPHA:869
HP:0030895	Abnormal gastrointestinal motility	8086	AAAS	ORPHA:869
HP:0030895	Abnormal gastrointestinal motility	8086	AAAS	OMIM:231550
HP:0030895	Abnormal gastrointestinal motility	2717	GLA	ORPHA:324
HP:0030895	Abnormal gastrointestinal motility	60	ACTB	ORPHA:79107
HP:0030895	Abnormal gastrointestinal motility	60	ACTB	OMIM:607371
HP:0030895	Abnormal gastrointestinal motility	4212	MEIS2	OMIM:600987
HP:0030895	Abnormal gastrointestinal motility	56246	MRAP	OMIM:607398
HP:0030895	Abnormal gastrointestinal motility	5428	POLG	ORPHA:298
HP:0030895	Abnormal gastrointestinal motility	5428	POLG	OMIM:603041
HP:0030895	Abnormal gastrointestinal motility	5428	POLG	OMIM:613662
HP:0030895	Abnormal gastrointestinal motility	1890	TYMP	ORPHA:298
HP:0030895	Abnormal gastrointestinal motility	1890	TYMP	OMIM:603041
HP:0030895	Abnormal gastrointestinal motility	3980	LIG3	ORPHA:298
HP:0030895	Abnormal gastrointestinal motility	50484	RRM2B	ORPHA:298
HP:0030895	Abnormal gastrointestinal motility	4558	MT-TF	ORPHA:550
HP:0030895	Abnormal gastrointestinal motility	4572	MT-TQ	ORPHA:550
HP:0030895	Abnormal gastrointestinal motility	4512	MT-CO1	ORPHA:550
HP:0030895	Abnormal gastrointestinal motility	4513	MT-CO2	ORPHA:550
HP:0030895	Abnormal gastrointestinal motility	4514	MT-CO3	ORPHA:550
HP:0030895	Abnormal gastrointestinal motility	4578	MT-TW	ORPHA:550
HP:0030895	Abnormal gastrointestinal motility	4540	MT-ND5	ORPHA:550
HP:0030895	Abnormal gastrointestinal motility	4541	MT-ND6	ORPHA:550
HP:0030895	Abnormal gastrointestinal motility	4535	MT-ND1	ORPHA:550
HP:0030895	Abnormal gastrointestinal motility	4538	MT-ND4	ORPHA:550
HP:0030895	Abnormal gastrointestinal motility	4567	MT-TL1	ORPHA:550
HP:0030895	Abnormal gastrointestinal motility	4574	MT-TS1	ORPHA:550
HP:0030895	Abnormal gastrointestinal motility	4575	MT-TS2	ORPHA:550
HP:0030895	Abnormal gastrointestinal motility	4564	MT-TH	ORPHA:550
HP:0030895	Abnormal gastrointestinal motility	28982	FLVCR1	ORPHA:88628
HP:0030895	Abnormal gastrointestinal motility	6651	SON	ORPHA:500150
HP:0030895	Abnormal gastrointestinal motility	816	CAMK2B	OMIM:617799
HP:0030895	Abnormal gastrointestinal motility	815	CAMK2A	OMIM:617798
HP:0030895	Abnormal gastrointestinal motility	6240	RRM1	OMIM:620647
HP:0030895	Abnormal gastrointestinal motility	59335	PRDM12	OMIM:616488
HP:0030895	Abnormal gastrointestinal motility	4358	MPV17	OMIM:256810
HP:0030895	Abnormal gastrointestinal motility	773	CACNA1A	ORPHA:2131
HP:0030895	Abnormal gastrointestinal motility	6507	SLC1A3	ORPHA:2131
HP:0030895	Abnormal gastrointestinal motility	477	ATP1A2	ORPHA:2131
HP:0030895	Abnormal gastrointestinal motility	478	ATP1A3	ORPHA:2131
HP:0030895	Abnormal gastrointestinal motility	3190	HNRNPK	ORPHA:352665
HP:0030895	Abnormal gastrointestinal motility	3190	HNRNPK	ORPHA:453504
HP:0030895	Abnormal gastrointestinal motility	128989	TANGO2	ORPHA:480864
HP:0030895	Abnormal gastrointestinal motility	9203	ZMYM3	OMIM:301111
HP:0030895	Abnormal gastrointestinal motility	1717	DHCR7	OMIM:270400
HP:0030895	Abnormal gastrointestinal motility	1019	CDK4	ORPHA:99971
HP:0030895	Abnormal gastrointestinal motility	4193	MDM2	ORPHA:99971
HP:0030895	Abnormal gastrointestinal motility	8091	HMGA2	ORPHA:99971
HP:0030895	Abnormal gastrointestinal motility	7466	WFS1	ORPHA:411590
HP:0030895	Abnormal gastrointestinal motility	25828	TXN2	ORPHA:478029
HP:0030895	Abnormal gastrointestinal motility	55148	UBR7	OMIM:619189
HP:0030895	Abnormal gastrointestinal motility	101060691	NUTM2B-AS1	OMIM:618637
HP:0030895	Abnormal gastrointestinal motility	2521	FUS	ORPHA:99967
HP:0030895	Abnormal gastrointestinal motility	1649	DDIT3	ORPHA:99967
HP:0030895	Abnormal gastrointestinal motility	3028	HSD17B10	ORPHA:391428
HP:0030895	Abnormal gastrointestinal motility	91574	MTRFR	ORPHA:254930
HP:0030895	Abnormal gastrointestinal motility	91574	MTRFR	OMIM:613559
HP:0030895	Abnormal gastrointestinal motility	2184	FAH	OMIM:276700
HP:0030895	Abnormal gastrointestinal motility	10092	ARPC5	OMIM:620565
HP:0030895	Abnormal gastrointestinal motility	1080	CFTR	OMIM:219700
HP:0030895	Abnormal gastrointestinal motility	2212	FCGR2A	OMIM:219700
HP:0030895	Abnormal gastrointestinal motility	7040	TGFB1	OMIM:219700
HP:0030895	Abnormal gastrointestinal motility	6535	SLC6A8	OMIM:300352
HP:0030895	Abnormal gastrointestinal motility	6535	SLC6A8	ORPHA:52503
HP:0030895	Abnormal gastrointestinal motility	2130	EWSR1	ORPHA:83469
HP:0030895	Abnormal gastrointestinal motility	7490	WT1	ORPHA:83469
HP:0030895	Abnormal gastrointestinal motility	50943	FOXP3	ORPHA:37042
HP:0030895	Abnormal gastrointestinal motility	50943	FOXP3	OMIM:304790
HP:0030895	Abnormal gastrointestinal motility	6663	SOX10	ORPHA:163746
HP:0030895	Abnormal gastrointestinal motility	6663	SOX10	OMIM:609136
HP:0030895	Abnormal gastrointestinal motility	284119	CAVIN1	OMIM:613327
HP:0030895	Abnormal gastrointestinal motility	5498	PPOX	ORPHA:79473
HP:0030895	Abnormal gastrointestinal motility	3145	HMBS	ORPHA:79276
HP:0030895	Abnormal gastrointestinal motility	26153	KIF26A	OMIM:620156
HP:0030895	Abnormal gastrointestinal motility	4629	MYH11	OMIM:619350
HP:0030895	Abnormal gastrointestinal motility	56652	TWNK	OMIM:607459
HP:0030895	Abnormal gastrointestinal motility	56652	TWNK	ORPHA:70595
HP:0030895	Abnormal gastrointestinal motility	72	ACTG2	OMIM:155310
HP:0030895	Abnormal gastrointestinal motility	2316	FLNA	OMIM:300048
HP:0030895	Abnormal gastrointestinal motility	151648	SGO1	OMIM:616201
HP:0030895	Abnormal gastrointestinal motility	6608	SMO	OMIM:601707
HP:0030895	Abnormal gastrointestinal motility	3423	IDS	OMIM:309900
HP:0030895	Abnormal gastrointestinal motility	672	BRCA1	ORPHA:1333
HP:0030895	Abnormal gastrointestinal motility	285282	RABL3	ORPHA:1333
HP:0030895	Abnormal gastrointestinal motility	7157	TP53	ORPHA:1333
HP:0030895	Abnormal gastrointestinal motility	675	BRCA2	ORPHA:1333
HP:0030895	Abnormal gastrointestinal motility	3845	KRAS	ORPHA:1333
HP:0030895	Abnormal gastrointestinal motility	1029	CDKN2A	ORPHA:1333
HP:0030895	Abnormal gastrointestinal motility	79728	PALB2	ORPHA:1333
HP:0030895	Abnormal gastrointestinal motility	4089	SMAD4	ORPHA:1333
HP:0030895	Abnormal gastrointestinal motility	23022	PALLD	ORPHA:1333
HP:0030895	Abnormal gastrointestinal motility	5885	RAD21	OMIM:611376
HP:0030895	Abnormal gastrointestinal motility	2065	ERBB3	OMIM:243180
HP:0030895	Abnormal gastrointestinal motility	6572	SLC18A3	OMIM:617239
HP:0030895	Abnormal gastrointestinal motility	2984	GUCY2C	OMIM:614665
HP:0030895	Abnormal gastrointestinal motility	6804	STX1A	ORPHA:586
HP:0030895	Abnormal gastrointestinal motility	2947	GSTM3	ORPHA:586
HP:0030895	Abnormal gastrointestinal motility	2729	GCLC	ORPHA:586
HP:0030895	Abnormal gastrointestinal motility	1084	CEACAM3	ORPHA:586
HP:0030895	Abnormal gastrointestinal motility	6556	SLC11A1	ORPHA:586
HP:0030895	Abnormal gastrointestinal motility	51164	DCTN4	ORPHA:586
HP:0030895	Abnormal gastrointestinal motility	3783	KCNN4	ORPHA:586
HP:0030895	Abnormal gastrointestinal motility	4282	MIF	ORPHA:586
HP:0030895	Abnormal gastrointestinal motility	1909	EDNRA	ORPHA:586
HP:0030895	Abnormal gastrointestinal motility	6550	SLC9A3	ORPHA:586
HP:0030895	Abnormal gastrointestinal motility	3162	HMOX1	ORPHA:586
HP:0030895	Abnormal gastrointestinal motility	115019	SLC26A9	ORPHA:586
HP:0030895	Abnormal gastrointestinal motility	3077	HFE	ORPHA:586
HP:0030895	Abnormal gastrointestinal motility	11254	SLC6A14	ORPHA:586
HP:0030895	Abnormal gastrointestinal motility	5265	SERPINA1	ORPHA:586
HP:0030895	Abnormal gastrointestinal motility	22802	CLCA4	ORPHA:586
HP:0030895	Abnormal gastrointestinal motility	4680	CEACAM6	ORPHA:586
HP:0030895	Abnormal gastrointestinal motility	283446	MYO1H	OMIM:619482
HP:0030895	Abnormal gastrointestinal motility	1371	CPOX	ORPHA:79273
HP:0030895	Abnormal gastrointestinal motility	55107	ANO1	OMIM:620045
HP:0030895	Abnormal gastrointestinal motility	79827	CLMP	OMIM:615237
HP:0030895	Abnormal gastrointestinal motility	8929	PHOX2B	OMIM:209880
HP:0030895	Abnormal gastrointestinal motility	25802	LMOD1	ORPHA:2241
HP:0030895	Abnormal gastrointestinal motility	4638	MYLK	ORPHA:2241
HP:0030895	Abnormal gastrointestinal motility	59	ACTA2	OMIM:613834
HP:0030895	Abnormal gastrointestinal motility	1288	COL4A6	ORPHA:1018
HP:0030895	Abnormal gastrointestinal motility	1287	COL4A5	ORPHA:1018
HP:0030895	Abnormal gastrointestinal motility	10398	MYL9	OMIM:619365
HP:0030895	Abnormal gastrointestinal motility	55898	UNC45A	OMIM:619377
HP:0030892	Deep cerebral white matter hyperintensities	5654	HTRA1	ORPHA:199354
HP:0030892	Deep cerebral white matter hyperintensities	23503	ZFYVE26	ORPHA:100996
HP:0030891	Periventricular white matter hyperintensities	410	ARSA	ORPHA:309271
HP:0030891	Periventricular white matter hyperintensities	410	ARSA	ORPHA:309263
HP:0030891	Periventricular white matter hyperintensities	410	ARSA	ORPHA:309256
HP:0030891	Periventricular white matter hyperintensities	5660	PSAP	ORPHA:309271
HP:0030891	Periventricular white matter hyperintensities	5660	PSAP	ORPHA:309263
HP:0030891	Periventricular white matter hyperintensities	5660	PSAP	ORPHA:309256
HP:0030891	Periventricular white matter hyperintensities	1267	CNP	OMIM:619071
HP:0030891	Periventricular white matter hyperintensities	2760	GM2A	ORPHA:309246
HP:0030891	Periventricular white matter hyperintensities	51324	SPG21	OMIM:248900
HP:0030891	Periventricular white matter hyperintensities	84065	TMEM222	OMIM:619470
HP:0030891	Periventricular white matter hyperintensities	7555	CNBP	OMIM:602668
HP:0030891	Periventricular white matter hyperintensities	6134	RPL10	OMIM:300998
HP:0030891	Periventricular white matter hyperintensities	5058	PAK1	OMIM:618158
HP:0030891	Periventricular white matter hyperintensities	4761	NEUROD2	OMIM:618374
HP:0030891	Periventricular white matter hyperintensities	23259	DDHD2	OMIM:615033
HP:0030891	Periventricular white matter hyperintensities	23259	DDHD2	ORPHA:320380
HP:0030891	Periventricular white matter hyperintensities	22866	CNKSR2	OMIM:301008
HP:0030891	Periventricular white matter hyperintensities	9692	PRORP	OMIM:619737
HP:0030891	Periventricular white matter hyperintensities	92335	STRADA	ORPHA:500533
HP:0030891	Periventricular white matter hyperintensities	51412	ACTL6B	OMIM:618468
HP:0030891	Periventricular white matter hyperintensities	25974	MMACHC	ORPHA:79282
HP:0030891	Periventricular white matter hyperintensities	2783	GNB2	OMIM:619503
HP:0030891	Periventricular white matter hyperintensities	7920	ABHD16A	OMIM:619735
HP:0030891	Periventricular white matter hyperintensities	25782	RAB3GAP2	OMIM:212720
HP:0030891	Periventricular white matter hyperintensities	85465	SELENOI	OMIM:618768
HP:0030891	Periventricular white matter hyperintensities	59	ACTA2	OMIM:613834
HP:0030891	Periventricular white matter hyperintensities	9907	AP5Z1	OMIM:613647
HP:0030891	Periventricular white matter hyperintensities	80036	TRPM3	OMIM:620224
HP:0030891	Periventricular white matter hyperintensities	10060	ABCC9	OMIM:619719
HP:0030899	Pruritis on hand	1080	CFTR	ORPHA:498359
HP:0030899	Pruritis on hand	5205	ATP8B1	ORPHA:69665
HP:0030899	Pruritis on hand	8647	ABCB11	ORPHA:69665
HP:0030899	Pruritis on hand	5244	ABCB4	ORPHA:69665
HP:0030899	Pruritis on hand	9971	NR1H4	ORPHA:69665
HP:0007990	Hypoplastic iris stroma	57167	SALL4	ORPHA:233
HP:0007990	Hypoplastic iris stroma	9935	MAFB	ORPHA:233
HP:0007990	Hypoplastic iris stroma	1123	CHN1	ORPHA:233
HP:0007990	Hypoplastic iris stroma	5080	PAX6	ORPHA:2334
HP:0007990	Hypoplastic iris stroma	2296	FOXC1	OMIM:601631
HP:0007990	Hypoplastic iris stroma	4286	MITF	OMIM:193510
HP:0007990	Hypoplastic iris stroma	5077	PAX3	OMIM:193500
HP:0007990	Hypoplastic iris stroma	5308	PITX2	OMIM:137600
HP:0004780	Elbow hypertrichosis	283209	PGM2L1	OMIM:620191
HP:0004780	Elbow hypertrichosis	4297	KMT2A	OMIM:605130
HP:0004783	Duodenal polyposis	657	BMPR1A	ORPHA:329971
HP:0004783	Duodenal polyposis	4089	SMAD4	ORPHA:329971
HP:0004783	Duodenal polyposis	2022	ENG	ORPHA:329971
HP:0004783	Duodenal polyposis	324	APC	OMIM:175100
HP:0004783	Duodenal polyposis	324	APC	ORPHA:247806
HP:0004783	Duodenal polyposis	324	APC	ORPHA:261584
HP:0004783	Duodenal polyposis	324	APC	ORPHA:79665
HP:0004783	Duodenal polyposis	4437	MSH3	OMIM:617100
HP:0004784	Juvenile gastrointestinal polyposis	4437	MSH3	ORPHA:480536
HP:0004784	Juvenile gastrointestinal polyposis	4089	SMAD4	OMIM:175050
HP:0004785	Malrotation of colon	7020	TFAP2A	OMIM:113620
HP:0004785	Malrotation of colon	9968	MED12	ORPHA:93932
HP:0004785	Malrotation of colon	25836	NIPBL	OMIM:122470
HP:0004785	Malrotation of colon	2317	FLNB	ORPHA:1190
HP:0004787	Fulminant hepatitis	10068	IL18BP	OMIM:618549
HP:0004787	Fulminant hepatitis	3875	KRT18	OMIM:215600
HP:0004787	Fulminant hepatitis	4068	SH2D1A	OMIM:308240
HP:0004787	Fulminant hepatitis	331	XIAP	OMIM:308240
HP:0004789	Lactose intolerance	2475	MTOR	ORPHA:457485
HP:0004789	Lactose intolerance	5238	PGM3	ORPHA:443811
HP:0004789	Lactose intolerance	6304	SATB1	OMIM:619229
HP:0004789	Lactose intolerance	3938	LCT	OMIM:223000
HP:0004789	Lactose intolerance	4175	MCM6	OMIM:223100
HP:0007992	Lattice retinal degeneration	1280	COL2A1	ORPHA:485
HP:0007992	Lattice retinal degeneration	1280	COL2A1	OMIM:619248
HP:0007992	Lattice retinal degeneration	652	BMP4	ORPHA:828
HP:0007992	Lattice retinal degeneration	55214	P3H2	OMIM:614292
HP:0007993	Malformed lacrimal duct	341640	FREM2	ORPHA:2052
HP:0007993	Malformed lacrimal duct	80144	FRAS1	ORPHA:2052
HP:0007993	Malformed lacrimal duct	80144	FRAS1	OMIM:219000
HP:0007993	Malformed lacrimal duct	23426	GRIP1	ORPHA:2052
HP:0007994	Peripheral visual field loss	92840	REEP6	ORPHA:791
HP:0007994	Peripheral visual field loss	6094	ROM1	ORPHA:791
HP:0007994	Peripheral visual field loss	6017	RLBP1	ORPHA:791
HP:0007994	Peripheral visual field loss	6017	RLBP1	ORPHA:52427
HP:0007994	Peripheral visual field loss	7401	CLRN1	ORPHA:791
HP:0007994	Peripheral visual field loss	24	ABCA4	ORPHA:791
HP:0007994	Peripheral visual field loss	24	ABCA4	OMIM:604116
HP:0007994	Peripheral visual field loss	130557	ZNF513	ORPHA:791
HP:0007994	Peripheral visual field loss	130557	ZNF513	OMIM:613617
HP:0007994	Peripheral visual field loss	582	BBS1	ORPHA:791
HP:0007994	Peripheral visual field loss	582	BBS1	OMIM:209900
HP:0007994	Peripheral visual field loss	92211	CDHR1	ORPHA:791
HP:0007994	Peripheral visual field loss	23568	ARL2BP	ORPHA:791
HP:0007994	Peripheral visual field loss	6121	RPE65	ORPHA:791
HP:0007994	Peripheral visual field loss	6121	RPE65	ORPHA:364055
HP:0007994	Peripheral visual field loss	6121	RPE65	OMIM:618697
HP:0007994	Peripheral visual field loss	54806	AHI1	ORPHA:791
HP:0007994	Peripheral visual field loss	6101	RP1	ORPHA:791
HP:0007994	Peripheral visual field loss	3419	IDH3A	ORPHA:791
HP:0007994	Peripheral visual field loss	4751	NEK2	ORPHA:791
HP:0007994	Peripheral visual field loss	346007	EYS	ORPHA:791
HP:0007994	Peripheral visual field loss	8100	IFT88	ORPHA:791
HP:0007994	Peripheral visual field loss	23020	SNRNP200	ORPHA:791
HP:0007994	Peripheral visual field loss	762	CA4	ORPHA:791
HP:0007994	Peripheral visual field loss	138050	HGSNAT	ORPHA:791
HP:0007994	Peripheral visual field loss	196	AHR	ORPHA:791
HP:0007994	Peripheral visual field loss	3614	IMPDH1	ORPHA:791
HP:0007994	Peripheral visual field loss	123016	TTC8	ORPHA:791
HP:0007994	Peripheral visual field loss	6103	RPGR	ORPHA:791
HP:0007994	Peripheral visual field loss	1406	CRX	ORPHA:791
HP:0007994	Peripheral visual field loss	1406	CRX	OMIM:120970
HP:0007994	Peripheral visual field loss	5148	PDE6G	ORPHA:791
HP:0007994	Peripheral visual field loss	26160	IFT172	ORPHA:791
HP:0007994	Peripheral visual field loss	26121	PRPF31	ORPHA:791
HP:0007994	Peripheral visual field loss	583	BBS2	ORPHA:791
HP:0007994	Peripheral visual field loss	583	BBS2	OMIM:615981
HP:0007994	Peripheral visual field loss	4117	MAK	ORPHA:791
HP:0007994	Peripheral visual field loss	25794	FSCN2	ORPHA:791
HP:0007994	Peripheral visual field loss	375298	CERKL	ORPHA:791
HP:0007994	Peripheral visual field loss	3420	IDH3B	ORPHA:791
HP:0007994	Peripheral visual field loss	57670	KIAA1549	ORPHA:791
HP:0007994	Peripheral visual field loss	7275	TUB	ORPHA:791
HP:0007994	Peripheral visual field loss	24148	PRPF6	ORPHA:791
HP:0007994	Peripheral visual field loss	24148	PRPF6	OMIM:613983
HP:0007994	Peripheral visual field loss	23418	CRB1	ORPHA:791
HP:0007994	Peripheral visual field loss	10461	MERTK	ORPHA:791
HP:0007994	Peripheral visual field loss	57709	SLC7A14	ORPHA:791
HP:0007994	Peripheral visual field loss	768206	PRCD	ORPHA:791
HP:0007994	Peripheral visual field loss	7399	USH2A	ORPHA:791
HP:0007994	Peripheral visual field loss	23370	ARHGEF18	ORPHA:791
HP:0007994	Peripheral visual field loss	5949	RBP3	ORPHA:791
HP:0007994	Peripheral visual field loss	6010	RHO	ORPHA:791
HP:0007994	Peripheral visual field loss	6010	RHO	ORPHA:52427
HP:0007994	Peripheral visual field loss	6100	RP9	ORPHA:791
HP:0007994	Peripheral visual field loss	10002	NR2E3	ORPHA:791
HP:0007994	Peripheral visual field loss	9227	LRAT	ORPHA:791
HP:0007994	Peripheral visual field loss	9227	LRAT	ORPHA:364055
HP:0007994	Peripheral visual field loss	84140	FAM161A	ORPHA:791
HP:0007994	Peripheral visual field loss	55812	SPATA7	ORPHA:791
HP:0007994	Peripheral visual field loss	55812	SPATA7	ORPHA:364055
HP:0007994	Peripheral visual field loss	55624	POMGNT1	ORPHA:791
HP:0007994	Peripheral visual field loss	79797	ZNF408	ORPHA:791
HP:0007994	Peripheral visual field loss	403	ARL3	ORPHA:791
HP:0007994	Peripheral visual field loss	5145	PDE6A	ORPHA:791
HP:0007994	Peripheral visual field loss	5145	PDE6A	OMIM:613810
HP:0007994	Peripheral visual field loss	10210	TOPORS	ORPHA:791
HP:0007994	Peripheral visual field loss	8842	PROM1	ORPHA:791
HP:0007994	Peripheral visual field loss	8842	PROM1	OMIM:612095
HP:0007994	Peripheral visual field loss	9128	PRPF4	ORPHA:791
HP:0007994	Peripheral visual field loss	145226	RDH12	ORPHA:791
HP:0007994	Peripheral visual field loss	50939	IMPG2	ORPHA:791
HP:0007994	Peripheral visual field loss	57545	CC2D2A	ORPHA:791
HP:0007994	Peripheral visual field loss	8481	OFD1	ORPHA:791
HP:0007994	Peripheral visual field loss	49855	SCAPER	ORPHA:791
HP:0007994	Peripheral visual field loss	9742	IFT140	ORPHA:791
HP:0007994	Peripheral visual field loss	9742	IFT140	OMIM:266920
HP:0007994	Peripheral visual field loss	2979	GUCA1B	ORPHA:791
HP:0007994	Peripheral visual field loss	1259	CNGA1	ORPHA:791
HP:0007994	Peripheral visual field loss	1259	CNGA1	OMIM:613756
HP:0007994	Peripheral visual field loss	1258	CNGB1	ORPHA:791
HP:0007994	Peripheral visual field loss	1258	CNGB1	OMIM:613767
HP:0007994	Peripheral visual field loss	60509	AGBL5	ORPHA:791
HP:0007994	Peripheral visual field loss	60509	AGBL5	OMIM:617023
HP:0007994	Peripheral visual field loss	5961	PRPH2	ORPHA:791
HP:0007994	Peripheral visual field loss	5961	PRPH2	ORPHA:52427
HP:0007994	Peripheral visual field loss	388939	PCARE	ORPHA:791
HP:0007994	Peripheral visual field loss	7439	BEST1	ORPHA:791
HP:0007994	Peripheral visual field loss	9785	DHX38	ORPHA:791
HP:0007994	Peripheral visual field loss	7287	TULP1	ORPHA:791
HP:0007994	Peripheral visual field loss	5995	RGR	ORPHA:791
HP:0007994	Peripheral visual field loss	9129	PRPF3	ORPHA:791
HP:0007994	Peripheral visual field loss	55975	KLHL7	ORPHA:791
HP:0007994	Peripheral visual field loss	3617	IMPG1	ORPHA:791
HP:0007994	Peripheral visual field loss	94137	RP1L1	ORPHA:791
HP:0007994	Peripheral visual field loss	5158	PDE6B	ORPHA:791
HP:0007994	Peripheral visual field loss	6102	RP2	ORPHA:791
HP:0007994	Peripheral visual field loss	55857	KIZ	ORPHA:791
HP:0007994	Peripheral visual field loss	64218	SEMA4A	ORPHA:791
HP:0007994	Peripheral visual field loss	64218	SEMA4A	OMIM:610283
HP:0007994	Peripheral visual field loss	4901	NRL	ORPHA:791
HP:0007994	Peripheral visual field loss	157657	CFAP418	ORPHA:791
HP:0007994	Peripheral visual field loss	10594	PRPF8	ORPHA:791
HP:0007994	Peripheral visual field loss	84100	ARL6	ORPHA:791
HP:0007994	Peripheral visual field loss	84100	ARL6	OMIM:209900
HP:0007994	Peripheral visual field loss	6295	SAG	ORPHA:791
HP:0007994	Peripheral visual field loss	79947	DHDDS	ORPHA:791
HP:0007994	Peripheral visual field loss	6389	SDHA	OMIM:619259
HP:0007994	Peripheral visual field loss	50484	RRM2B	OMIM:268315
HP:0007994	Peripheral visual field loss	3423	IDS	ORPHA:217085
HP:0007994	Peripheral visual field loss	3423	IDS	ORPHA:217093
HP:0007994	Peripheral visual field loss	79140	CCDC28B	OMIM:209900
HP:0007994	Peripheral visual field loss	6533	SLC6A6	OMIM:145350
HP:0007994	Peripheral visual field loss	10283	CWC27	OMIM:250410
HP:0007994	Peripheral visual field loss	1737	DLAT	ORPHA:79244
HP:0007994	Peripheral visual field loss	3000	GUCY2D	OMIM:601777
HP:0007994	Peripheral visual field loss	5959	RDH5	ORPHA:52427
HP:0007994	Peripheral visual field loss	167691	LCA5	ORPHA:364055
HP:0007994	Peripheral visual field loss	1121	CHM	ORPHA:180
HP:0007994	Peripheral visual field loss	100151683	RNU4ATAC	OMIM:226960
HP:0007994	Peripheral visual field loss	79628	SH3TC2	ORPHA:99949
HP:0007994	Peripheral visual field loss	2202	EFEMP1	ORPHA:98977
HP:0007994	Peripheral visual field loss	1545	CYP1B1	ORPHA:98977
HP:0007994	Peripheral visual field loss	4653	MYOC	ORPHA:98977
HP:0007994	Peripheral visual field loss	5456	POU3F4	ORPHA:1435
HP:0001827	Genital tract atresia	7490	WT1	ORPHA:3097
HP:0001827	Genital tract atresia	51626	DYNC2LI1	OMIM:617088
HP:0001827	Genital tract atresia	341640	FREM2	ORPHA:2052
HP:0001827	Genital tract atresia	80144	FRAS1	ORPHA:2052
HP:0001827	Genital tract atresia	80144	FRAS1	OMIM:219000
HP:0001827	Genital tract atresia	23426	GRIP1	ORPHA:2052
HP:0001827	Genital tract atresia	8516	ITGA8	OMIM:191830
HP:0001827	Genital tract atresia	158326	FREM1	OMIM:248450
HP:0001827	Genital tract atresia	2625	GATA3	ORPHA:2237
HP:0001827	Genital tract atresia	9928	KIF14	OMIM:616258
HP:0001827	Genital tract atresia	9928	KIF14	OMIM:617914
HP:0001827	Genital tract atresia	2263	FGFR2	OMIM:207410
HP:0001827	Genital tract atresia	2263	FGFR2	OMIM:101200
HP:0001827	Genital tract atresia	5447	POR	OMIM:207410
HP:0001827	Genital tract atresia	166379	BBS12	OMIM:615989
HP:0001827	Genital tract atresia	8195	MKKS	OMIM:236700
HP:0001827	Genital tract atresia	8195	MKKS	OMIM:605231
HP:0001827	Genital tract atresia	84100	ARL6	OMIM:209900
HP:0001827	Genital tract atresia	79140	CCDC28B	OMIM:209900
HP:0001827	Genital tract atresia	582	BBS1	OMIM:209900
HP:0001827	Genital tract atresia	7473	WNT3	OMIM:273395
HP:0001827	Genital tract atresia	7473	WNT3	ORPHA:3301
HP:0001827	Genital tract atresia	340419	RSPO2	ORPHA:3301
HP:0001827	Genital tract atresia	9496	TBX4	ORPHA:3301
HP:0001537	Umbilical hernia	23394	ADNP	ORPHA:404448
HP:0001537	Umbilical hernia	26235	FBXL4	OMIM:615471
HP:0001537	Umbilical hernia	341640	FREM2	ORPHA:2052
HP:0001537	Umbilical hernia	80144	FRAS1	ORPHA:2052
HP:0001537	Umbilical hernia	23426	GRIP1	ORPHA:2052
HP:0001537	Umbilical hernia	55503	TRPV6	OMIM:618188
HP:0001537	Umbilical hernia	8425	LTBP4	OMIM:613177
HP:0001537	Umbilical hernia	145173	B3GLCT	ORPHA:709
HP:0001537	Umbilical hernia	145173	B3GLCT	OMIM:261540
HP:0001537	Umbilical hernia	1788	DNMT3A	ORPHA:404443
HP:0001537	Umbilical hernia	1788	DNMT3A	OMIM:615879
HP:0001537	Umbilical hernia	4758	NEU1	ORPHA:93399
HP:0001537	Umbilical hernia	4758	NEU1	ORPHA:93400
HP:0001537	Umbilical hernia	64324	NSD1	ORPHA:821
HP:0001537	Umbilical hernia	10297	APC2	ORPHA:821
HP:0001537	Umbilical hernia	4487	MSX1	ORPHA:199302
HP:0001537	Umbilical hernia	5818	NECTIN1	ORPHA:199302
HP:0001537	Umbilical hernia	8626	TP63	ORPHA:199302
HP:0001537	Umbilical hernia	8626	TP63	ORPHA:93930
HP:0001537	Umbilical hernia	3664	IRF6	ORPHA:199302
HP:0001537	Umbilical hernia	4125	MAN2B1	ORPHA:309282
HP:0001537	Umbilical hernia	7849	PAX8	OMIM:218700
HP:0001537	Umbilical hernia	7849	PAX8	ORPHA:95713
HP:0001537	Umbilical hernia	7849	PAX8	ORPHA:95712
HP:0001537	Umbilical hernia	4281	MID1	OMIM:300000
HP:0001537	Umbilical hernia	4281	MID1	ORPHA:2745
HP:0001537	Umbilical hernia	3481	IGF2	ORPHA:231144
HP:0001537	Umbilical hernia	283120	H19	ORPHA:231144
HP:0001537	Umbilical hernia	374654	KIF7	OMIM:200990
HP:0001537	Umbilical hernia	2737	GLI3	ORPHA:380
HP:0001537	Umbilical hernia	2737	GLI3	ORPHA:672
HP:0001537	Umbilical hernia	2737	GLI3	OMIM:175700
HP:0001537	Umbilical hernia	1855	DVL1	OMIM:616331
HP:0001537	Umbilical hernia	1855	DVL1	ORPHA:3107
HP:0001537	Umbilical hernia	1855	DVL1	OMIM:180700
HP:0001537	Umbilical hernia	64412	GZF1	OMIM:617662
HP:0001537	Umbilical hernia	283489	CHAMP1	OMIM:616579
HP:0001537	Umbilical hernia	72	ACTG2	ORPHA:2604
HP:0001537	Umbilical hernia	72	ACTG2	ORPHA:2241
HP:0001537	Umbilical hernia	23384	SPECC1L	ORPHA:1519
HP:0001537	Umbilical hernia	3764	KCNJ8	ORPHA:1517
HP:0001537	Umbilical hernia	10060	ABCC9	ORPHA:1517
HP:0001537	Umbilical hernia	10060	ABCC9	OMIM:239850
HP:0001537	Umbilical hernia	79158	GNPTAB	OMIM:252500
HP:0001537	Umbilical hernia	79158	GNPTAB	ORPHA:423461
HP:0001537	Umbilical hernia	79158	GNPTAB	ORPHA:576
HP:0001537	Umbilical hernia	55636	CHD7	ORPHA:138
HP:0001537	Umbilical hernia	55636	CHD7	OMIM:214800
HP:0001537	Umbilical hernia	9723	SEMA3E	ORPHA:138
HP:0001537	Umbilical hernia	1353	COX11	OMIM:620275
HP:0001537	Umbilical hernia	7253	TSHR	ORPHA:90673
HP:0001537	Umbilical hernia	7253	TSHR	ORPHA:95713
HP:0001537	Umbilical hernia	7252	TSHB	ORPHA:90674
HP:0001537	Umbilical hernia	7252	TSHB	OMIM:275100
HP:0001537	Umbilical hernia	29957	SLC25A24	ORPHA:2963
HP:0001537	Umbilical hernia	29957	SLC25A24	ORPHA:2095
HP:0001537	Umbilical hernia	29957	SLC25A24	OMIM:612289
HP:0001537	Umbilical hernia	1146	CHRNG	OMIM:265000
HP:0001537	Umbilical hernia	1146	CHRNG	ORPHA:2990
HP:0001537	Umbilical hernia	57492	ARID1B	OMIM:135900
HP:0001537	Umbilical hernia	54453	RIN2	OMIM:613075
HP:0001537	Umbilical hernia	54453	RIN2	ORPHA:217335
HP:0001537	Umbilical hernia	50814	NSDHL	OMIM:308050
HP:0001537	Umbilical hernia	23545	ATP6V0A2	ORPHA:2834
HP:0001537	Umbilical hernia	23545	ATP6V0A2	OMIM:278250
HP:0001537	Umbilical hernia	4853	NOTCH2	OMIM:102500
HP:0001537	Umbilical hernia	4853	NOTCH2	ORPHA:955
HP:0001537	Umbilical hernia	3423	IDS	ORPHA:217085
HP:0001537	Umbilical hernia	3423	IDS	OMIM:309900
HP:0001537	Umbilical hernia	3423	IDS	ORPHA:217093
HP:0001537	Umbilical hernia	9968	MED12	ORPHA:93932
HP:0001537	Umbilical hernia	9968	MED12	OMIM:305450
HP:0001537	Umbilical hernia	9968	MED12	OMIM:301068
HP:0001537	Umbilical hernia	64359	NXN	ORPHA:1507
HP:0001537	Umbilical hernia	4920	ROR2	ORPHA:1507
HP:0001537	Umbilical hernia	4920	ROR2	OMIM:268310
HP:0001537	Umbilical hernia	672	BRCA1	ORPHA:84
HP:0001537	Umbilical hernia	10459	MAD2L2	ORPHA:84
HP:0001537	Umbilical hernia	7516	XRCC2	ORPHA:84
HP:0001537	Umbilical hernia	29089	UBE2T	ORPHA:84
HP:0001537	Umbilical hernia	675	BRCA2	ORPHA:84
HP:0001537	Umbilical hernia	55120	FANCL	ORPHA:84
HP:0001537	Umbilical hernia	2177	FANCD2	ORPHA:84
HP:0001537	Umbilical hernia	2175	FANCA	ORPHA:84
HP:0001537	Umbilical hernia	2187	FANCB	ORPHA:84
HP:0001537	Umbilical hernia	2176	FANCC	ORPHA:84
HP:0001537	Umbilical hernia	2178	FANCE	ORPHA:84
HP:0001537	Umbilical hernia	2188	FANCF	ORPHA:84
HP:0001537	Umbilical hernia	2189	FANCG	ORPHA:84
HP:0001537	Umbilical hernia	5888	RAD51	ORPHA:84
HP:0001537	Umbilical hernia	5889	RAD51C	ORPHA:84
HP:0001537	Umbilical hernia	55159	RFWD3	ORPHA:84
HP:0001537	Umbilical hernia	83990	BRIP1	ORPHA:84
HP:0001537	Umbilical hernia	57697	FANCM	ORPHA:84
HP:0001537	Umbilical hernia	79728	PALB2	ORPHA:84
HP:0001537	Umbilical hernia	84464	SLX4	ORPHA:84
HP:0001537	Umbilical hernia	2072	ERCC4	ORPHA:84
HP:0001537	Umbilical hernia	55215	FANCI	ORPHA:84
HP:0001537	Umbilical hernia	3670	ISL1	ORPHA:93930
HP:0001537	Umbilical hernia	6598	SMARCB1	OMIM:614608
HP:0001537	Umbilical hernia	2697	GJA1	ORPHA:2710
HP:0001537	Umbilical hernia	10555	AGPAT2	OMIM:608594
HP:0001537	Umbilical hernia	1277	COL1A1	ORPHA:287
HP:0001537	Umbilical hernia	1289	COL5A1	ORPHA:287
HP:0001537	Umbilical hernia	1289	COL5A1	OMIM:130000
HP:0001537	Umbilical hernia	1290	COL5A2	ORPHA:287
HP:0001537	Umbilical hernia	6899	TBX1	OMIM:188400
HP:0001537	Umbilical hernia	6899	TBX1	OMIM:192430
HP:0001537	Umbilical hernia	6899	TBX1	ORPHA:567
HP:0001537	Umbilical hernia	1281	COL3A1	ORPHA:286
HP:0001537	Umbilical hernia	8726	EED	OMIM:617561
HP:0001537	Umbilical hernia	22872	SEC31A	OMIM:618651
HP:0001537	Umbilical hernia	54968	TMEM70	OMIM:614052
HP:0001537	Umbilical hernia	11107	PRDM5	OMIM:614170
HP:0001537	Umbilical hernia	26053	AUTS2	ORPHA:352490
HP:0001537	Umbilical hernia	26053	AUTS2	OMIM:615834
HP:0001537	Umbilical hernia	79813	EHMT1	OMIM:610253
HP:0001537	Umbilical hernia	79813	EHMT1	ORPHA:261652
HP:0001537	Umbilical hernia	29128	UHRF1	ORPHA:2268
HP:0001537	Umbilical hernia	3070	HELLS	ORPHA:2268
HP:0001537	Umbilical hernia	1789	DNMT3B	ORPHA:2268
HP:0001537	Umbilical hernia	83879	CDCA7	ORPHA:2268
HP:0001537	Umbilical hernia	9841	ZBTB24	ORPHA:2268
HP:0001537	Umbilical hernia	1009	CDH11	ORPHA:1299
HP:0001537	Umbilical hernia	1954	MEGF8	OMIM:614976
HP:0001537	Umbilical hernia	1954	MEGF8	ORPHA:65759
HP:0001537	Umbilical hernia	649	BMP1	OMIM:614856
HP:0001537	Umbilical hernia	4036	LRP2	ORPHA:2143
HP:0001537	Umbilical hernia	4036	LRP2	OMIM:222448
HP:0001537	Umbilical hernia	3425	IDUA	OMIM:607014
HP:0001537	Umbilical hernia	3425	IDUA	OMIM:607015
HP:0001537	Umbilical hernia	175	AGA	ORPHA:93
HP:0001537	Umbilical hernia	26834	RNU4-2	OMIM:620851
HP:0001537	Umbilical hernia	165	AEBP1	ORPHA:536532
HP:0001537	Umbilical hernia	165	AEBP1	OMIM:618000
HP:0001537	Umbilical hernia	1947	EFNB1	OMIM:304110
HP:0001537	Umbilical hernia	1836	SLC26A2	OMIM:600972
HP:0001537	Umbilical hernia	1836	SLC26A2	ORPHA:93298
HP:0001537	Umbilical hernia	4952	OCRL	OMIM:300555
HP:0001537	Umbilical hernia	4952	OCRL	ORPHA:534
HP:0001537	Umbilical hernia	23512	SUZ12	OMIM:618786
HP:0001537	Umbilical hernia	23126	POGZ	OMIM:616364
HP:0001537	Umbilical hernia	54914	FOCAD	OMIM:619991
HP:0001537	Umbilical hernia	5626	PROP1	ORPHA:226307
HP:0001537	Umbilical hernia	89884	LHX4	ORPHA:226307
HP:0001537	Umbilical hernia	8022	LHX3	ORPHA:226307
HP:0001537	Umbilical hernia	5449	POU1F1	ORPHA:226307
HP:0001537	Umbilical hernia	8820	HESX1	ORPHA:226307
HP:0001537	Umbilical hernia	1857	DVL3	ORPHA:3107
HP:0001537	Umbilical hernia	7474	WNT5A	ORPHA:3107
HP:0001537	Umbilical hernia	7474	WNT5A	OMIM:180700
HP:0001537	Umbilical hernia	2535	FZD2	ORPHA:3107
HP:0001537	Umbilical hernia	9681	DEPDC5	OMIM:620504
HP:0001537	Umbilical hernia	2627	GATA6	ORPHA:2255
HP:0001537	Umbilical hernia	2627	GATA6	OMIM:600001
HP:0001537	Umbilical hernia	6804	STX1A	ORPHA:904
HP:0001537	Umbilical hernia	7461	CLIP2	ORPHA:904
HP:0001537	Umbilical hernia	84277	DNAJC30	ORPHA:904
HP:0001537	Umbilical hernia	8468	FKBP6	ORPHA:904
HP:0001537	Umbilical hernia	5982	RFC2	ORPHA:904
HP:0001537	Umbilical hernia	2969	GTF2I	ORPHA:904
HP:0001537	Umbilical hernia	3984	LIMK1	ORPHA:904
HP:0001537	Umbilical hernia	9569	GTF2IRD1	ORPHA:904
HP:0001537	Umbilical hernia	155382	VPS37D	ORPHA:904
HP:0001537	Umbilical hernia	155368	METTL27	ORPHA:904
HP:0001537	Umbilical hernia	114049	BUD23	ORPHA:904
HP:0001537	Umbilical hernia	7458	EIF4H	ORPHA:904
HP:0001537	Umbilical hernia	84163	GTF2IRD2	ORPHA:904
HP:0001537	Umbilical hernia	26608	TBL2	ORPHA:904
HP:0001537	Umbilical hernia	653361	NCF1	ORPHA:904
HP:0001537	Umbilical hernia	135886	TMEM270	ORPHA:904
HP:0001537	Umbilical hernia	9031	BAZ1B	ORPHA:904
HP:0001537	Umbilical hernia	2006	ELN	ORPHA:904
HP:0001537	Umbilical hernia	2006	ELN	OMIM:194050
HP:0001537	Umbilical hernia	79753	SNIP1	OMIM:614501
HP:0001537	Umbilical hernia	5593	PRKG2	OMIM:619636
HP:0001537	Umbilical hernia	8364	H4C3	OMIM:619758
HP:0001537	Umbilical hernia	8517	IKBKG	ORPHA:464
HP:0001537	Umbilical hernia	2990	GUSB	ORPHA:584
HP:0001537	Umbilical hernia	2990	GUSB	OMIM:253220
HP:0001537	Umbilical hernia	2200	FBN1	OMIM:608328
HP:0001537	Umbilical hernia	2200	FBN1	ORPHA:2462
HP:0001537	Umbilical hernia	715	C1R	OMIM:130080
HP:0001537	Umbilical hernia	58508	KMT2C	ORPHA:261652
HP:0001537	Umbilical hernia	50506	DUOX2	ORPHA:226316
HP:0001537	Umbilical hernia	50506	DUOX2	ORPHA:95716
HP:0001537	Umbilical hernia	54487	DGCR8	OMIM:192430
HP:0001537	Umbilical hernia	8214	DGCR6	OMIM:192430
HP:0001537	Umbilical hernia	8220	ESS2	OMIM:192430
HP:0001537	Umbilical hernia	9993	DGCR2	OMIM:192430
HP:0001537	Umbilical hernia	25802	LMOD1	ORPHA:2241
HP:0001537	Umbilical hernia	4629	MYH11	ORPHA:2241
HP:0001537	Umbilical hernia	4638	MYLK	ORPHA:2241
HP:0001537	Umbilical hernia	51341	ZBTB7A	OMIM:619769
HP:0001537	Umbilical hernia	5832	ALDH18A1	OMIM:219150
HP:0001537	Umbilical hernia	2316	FLNA	OMIM:304120
HP:0001537	Umbilical hernia	2316	FLNA	ORPHA:75497
HP:0001537	Umbilical hernia	51085	MLXIPL	OMIM:194050
HP:0001537	Umbilical hernia	55343	SLC35C1	ORPHA:99843
HP:0001537	Umbilical hernia	7030	TFE3	OMIM:301066
HP:0001537	Umbilical hernia	2239	GPC4	ORPHA:373
HP:0001537	Umbilical hernia	2239	GPC4	OMIM:312870
HP:0001537	Umbilical hernia	2719	GPC3	ORPHA:373
HP:0001537	Umbilical hernia	2719	GPC3	OMIM:312870
HP:0001537	Umbilical hernia	81031	SLC2A10	OMIM:208050
HP:0001537	Umbilical hernia	284098	PIGW	OMIM:616025
HP:0001537	Umbilical hernia	259232	NALCN	OMIM:616266
HP:0001537	Umbilical hernia	23483	TGDS	OMIM:616145
HP:0001537	Umbilical hernia	285203	EOGT	OMIM:615297
HP:0001537	Umbilical hernia	57479	PRR12	OMIM:619539
HP:0001537	Umbilical hernia	4851	NOTCH1	OMIM:616028
HP:0001537	Umbilical hernia	84168	ANTXR1	OMIM:230740
HP:0001537	Umbilical hernia	84168	ANTXR1	ORPHA:2067
HP:0001537	Umbilical hernia	64919	BCL11B	OMIM:617237
HP:0001537	Umbilical hernia	4088	SMAD3	OMIM:613795
HP:0001537	Umbilical hernia	4088	SMAD3	ORPHA:284984
HP:0001537	Umbilical hernia	4087	SMAD2	OMIM:619656
HP:0001537	Umbilical hernia	3930	LBR	OMIM:169400
HP:0001537	Umbilical hernia	2146	EZH2	OMIM:277590
HP:0001537	Umbilical hernia	7048	TGFBR2	OMIM:610168
HP:0001537	Umbilical hernia	1107	CHD3	OMIM:618205
HP:0001537	Umbilical hernia	9321	TRIP11	ORPHA:93299
HP:0001537	Umbilical hernia	404672	GTF2H5	ORPHA:33364
HP:0001537	Umbilical hernia	833	CARS1	ORPHA:33364
HP:0001537	Umbilical hernia	2068	ERCC2	ORPHA:33364
HP:0001537	Umbilical hernia	7737	RNF113A	ORPHA:33364
HP:0001537	Umbilical hernia	136647	MPLKIP	ORPHA:33364
HP:0001537	Umbilical hernia	6897	TARS1	ORPHA:33364
HP:0001537	Umbilical hernia	16	AARS1	ORPHA:33364
HP:0001537	Umbilical hernia	2071	ERCC3	ORPHA:33364
HP:0001537	Umbilical hernia	2961	GTF2E2	ORPHA:33364
HP:0001537	Umbilical hernia	3339	HSPG2	OMIM:255800
HP:0001537	Umbilical hernia	3339	HSPG2	ORPHA:800
HP:0001537	Umbilical hernia	147372	CCBE1	OMIM:235510
HP:0001537	Umbilical hernia	6528	SLC5A5	OMIM:274400
HP:0001537	Umbilical hernia	6528	SLC5A5	ORPHA:95716
HP:0001537	Umbilical hernia	117581	TWIST2	ORPHA:920
HP:0001537	Umbilical hernia	6595	SMARCA2	OMIM:601358
HP:0001537	Umbilical hernia	1387	CREBBP	OMIM:618332
HP:0001537	Umbilical hernia	1387	CREBBP	ORPHA:592574
HP:0001537	Umbilical hernia	8295	TRRAP	OMIM:618454
HP:0001537	Umbilical hernia	9742	IFT140	OMIM:266920
HP:0001537	Umbilical hernia	55690	PACS1	ORPHA:329224
HP:0001537	Umbilical hernia	51053	GMNN	OMIM:616835
HP:0001537	Umbilical hernia	2245	FGD1	ORPHA:915
HP:0001537	Umbilical hernia	2245	FGD1	OMIM:305400
HP:0001537	Umbilical hernia	6497	SKI	ORPHA:2462
HP:0001537	Umbilical hernia	6497	SKI	OMIM:182212
HP:0001537	Umbilical hernia	5908	RAP1B	OMIM:620654
HP:0001537	Umbilical hernia	90417	KNSTRN	OMIM:613328
HP:0001537	Umbilical hernia	90417	KNSTRN	ORPHA:221139
HP:0001537	Umbilical hernia	5293	PIK3CD	OMIM:613328
HP:0001537	Umbilical hernia	5293	PIK3CD	ORPHA:221139
HP:0001537	Umbilical hernia	6792	CDKL5	ORPHA:1934
HP:0001537	Umbilical hernia	3736	KCNA1	ORPHA:1934
HP:0001537	Umbilical hernia	9091	PIGQ	ORPHA:1934
HP:0001537	Umbilical hernia	140679	SLC32A1	ORPHA:1934
HP:0001537	Umbilical hernia	2775	GNAO1	ORPHA:1934
HP:0001537	Umbilical hernia	81603	TRIM8	ORPHA:1934
HP:0001537	Umbilical hernia	2902	GRIN1	ORPHA:1934
HP:0001537	Umbilical hernia	79751	SLC25A22	ORPHA:1934
HP:0001537	Umbilical hernia	150094	SIK1	ORPHA:1934
HP:0001537	Umbilical hernia	8573	CASK	ORPHA:1934
HP:0001537	Umbilical hernia	23312	DMXL2	ORPHA:1934
HP:0001537	Umbilical hernia	2917	GRM7	ORPHA:1934
HP:0001537	Umbilical hernia	170302	ARX	ORPHA:1934
HP:0001537	Umbilical hernia	11284	PNKP	ORPHA:1934
HP:0001537	Umbilical hernia	6326	SCN2A	ORPHA:1934
HP:0001537	Umbilical hernia	51227	PIGP	ORPHA:1934
HP:0001537	Umbilical hernia	6324	SCN1B	ORPHA:1934
HP:0001537	Umbilical hernia	4761	NEUROD2	ORPHA:1934
HP:0001537	Umbilical hernia	9361	LONP1	OMIM:600373
HP:0001537	Umbilical hernia	6448	SGSH	OMIM:252900
HP:0001537	Umbilical hernia	388015	RTL1	ORPHA:254534
HP:0001537	Umbilical hernia	388015	RTL1	ORPHA:254528
HP:0001537	Umbilical hernia	8788	DLK1	ORPHA:254534
HP:0001537	Umbilical hernia	8788	DLK1	ORPHA:254528
HP:0001537	Umbilical hernia	55384	MEG3	ORPHA:254534
HP:0001537	Umbilical hernia	55384	MEG3	ORPHA:254528
HP:0001537	Umbilical hernia	9759	HDAC4	ORPHA:1001
HP:0001537	Umbilical hernia	4076	CAPRIN1	OMIM:620782
HP:0001537	Umbilical hernia	546	ATRX	OMIM:301040
HP:0001537	Umbilical hernia	411	ARSB	OMIM:253200
HP:0001537	Umbilical hernia	6299	SALL1	OMIM:107480
HP:0001537	Umbilical hernia	10847	SRCAP	OMIM:136140
HP:0001537	Umbilical hernia	5515	PPP2CA	OMIM:618354
HP:0001537	Umbilical hernia	4854	NOTCH3	OMIM:130720
HP:0001537	Umbilical hernia	4854	NOTCH3	ORPHA:2789
HP:0001537	Umbilical hernia	23291	FBXW11	OMIM:618914
HP:0001537	Umbilical hernia	169792	GLIS3	OMIM:610199
HP:0001537	Umbilical hernia	3097	HIVEP2	OMIM:616977
HP:0001537	Umbilical hernia	55033	FKBP14	OMIM:614557
HP:0001537	Umbilical hernia	3767	KCNJ11	ORPHA:99886
HP:0001537	Umbilical hernia	346171	ZFP57	ORPHA:99886
HP:0001537	Umbilical hernia	57061	HYMAI	ORPHA:99886
HP:0001537	Umbilical hernia	57061	HYMAI	ORPHA:96191
HP:0001537	Umbilical hernia	6833	ABCC8	ORPHA:99886
HP:0001537	Umbilical hernia	5325	PLAGL1	ORPHA:99886
HP:0001537	Umbilical hernia	5325	PLAGL1	ORPHA:96191
HP:0001537	Umbilical hernia	79068	FTO	OMIM:612938
HP:0001537	Umbilical hernia	4784	NFIX	OMIM:602535
HP:0001537	Umbilical hernia	3756	KCNH1	OMIM:135500
HP:0001537	Umbilical hernia	8260	NAA10	OMIM:300855
HP:0001537	Umbilical hernia	10082	GPC6	OMIM:258315
HP:0001537	Umbilical hernia	405753	DUOXA2	ORPHA:95716
HP:0001537	Umbilical hernia	7038	TG	ORPHA:95716
HP:0001537	Umbilical hernia	7173	TPO	ORPHA:95716
HP:0001537	Umbilical hernia	389434	IYD	ORPHA:95716
HP:0001537	Umbilical hernia	55603	TENT5A	OMIM:617952
HP:0001537	Umbilical hernia	7080	NKX2-1	ORPHA:95713
HP:0001537	Umbilical hernia	1482	NKX2-5	ORPHA:95713
HP:0001537	Umbilical hernia	1482	NKX2-5	ORPHA:95712
HP:0001537	Umbilical hernia	2304	FOXE1	ORPHA:95713
HP:0001537	Umbilical hernia	5172	SLC26A4	ORPHA:95713
HP:0001537	Umbilical hernia	134701	RIPPLY2	ORPHA:2311
HP:0001537	Umbilical hernia	10683	DLL3	ORPHA:2311
HP:0001537	Umbilical hernia	3955	LFNG	ORPHA:2311
HP:0001537	Umbilical hernia	84667	HES7	ORPHA:2311
HP:0001537	Umbilical hernia	145873	MESP2	ORPHA:2311
HP:0001537	Umbilical hernia	2019	EN1	OMIM:619218
HP:0001537	Umbilical hernia	23389	MED13L	ORPHA:369891
HP:0001537	Umbilical hernia	5351	PLOD1	ORPHA:1900
HP:0001537	Umbilical hernia	1312	COMT	ORPHA:567
HP:0001537	Umbilical hernia	221037	JMJD1C	ORPHA:567
HP:0001537	Umbilical hernia	2812	GP1BB	ORPHA:567
HP:0001537	Umbilical hernia	6239	RREB1	ORPHA:567
HP:0001537	Umbilical hernia	7290	HIRA	ORPHA:567
HP:0001537	Umbilical hernia	9632	SEC24C	ORPHA:567
HP:0001537	Umbilical hernia	7353	UFD1	ORPHA:567
HP:0001537	Umbilical hernia	421	ARVCF	ORPHA:567
HP:0001537	Umbilical hernia	538	ATP7A	ORPHA:565
HP:0001537	Umbilical hernia	6045	RNF2	OMIM:619460
HP:0001537	Umbilical hernia	1280	COL2A1	OMIM:156550
HP:0001537	Umbilical hernia	2743	GLRB	ORPHA:3197
HP:0001537	Umbilical hernia	2741	GLRA1	ORPHA:3197
HP:0001537	Umbilical hernia	2741	GLRA1	OMIM:149400
HP:0001537	Umbilical hernia	10243	GPHN	ORPHA:3197
HP:0001537	Umbilical hernia	10243	GPHN	OMIM:149400
HP:0001537	Umbilical hernia	84896	ATAD1	ORPHA:3197
HP:0001537	Umbilical hernia	84896	ATAD1	OMIM:618011
HP:0001537	Umbilical hernia	9152	SLC6A5	ORPHA:3197
HP:0001537	Umbilical hernia	9509	ADAMTS2	OMIM:225410
HP:0001537	Umbilical hernia	633	BGN	OMIM:300989
HP:0001537	Umbilical hernia	2475	MTOR	OMIM:616638
HP:0001537	Umbilical hernia	51715	RAB23	ORPHA:65759
HP:0001537	Umbilical hernia	51715	RAB23	OMIM:201000
HP:0001537	Umbilical hernia	26227	PHGDH	ORPHA:79351
HP:0001537	Umbilical hernia	26040	SETBP1	ORPHA:798
HP:0001537	Umbilical hernia	64864	RFX7	OMIM:620330
HP:0001537	Umbilical hernia	64840	PORCN	OMIM:305600
HP:0001537	Umbilical hernia	64840	PORCN	ORPHA:2092
HP:0001537	Umbilical hernia	84265	POLR3GL	OMIM:619234
HP:0001537	Umbilical hernia	716	C1S	OMIM:617174
HP:0001537	Umbilical hernia	10526	IPO8	OMIM:619472
HP:0001537	Umbilical hernia	26580	BSCL2	OMIM:269700
HP:0001537	Umbilical hernia	94005	PIGS	OMIM:618143
HP:0001537	Umbilical hernia	1861	TOR1A	OMIM:618947
HP:0001537	Umbilical hernia	285590	SH3PXD2B	ORPHA:137834
HP:0001537	Umbilical hernia	23405	DICER1	OMIM:618272
HP:0001537	Umbilical hernia	113189	CHST14	OMIM:601776
HP:0001537	Umbilical hernia	51360	MBTPS2	OMIM:308205
HP:0001537	Umbilical hernia	1457	CSNK2A1	OMIM:617062
HP:0001537	Umbilical hernia	54880	BCOR	OMIM:300166
HP:0001537	Umbilical hernia	2263	FGFR2	ORPHA:1555
HP:0001537	Umbilical hernia	100506658	OCLN	OMIM:251290
HP:0001537	Umbilical hernia	23169	SLC35D1	OMIM:269250
HP:0001537	Umbilical hernia	60	ACTB	OMIM:620475
HP:0001537	Umbilical hernia	149461	CLDN19	ORPHA:2196
HP:0001537	Umbilical hernia	5879	RAC1	OMIM:617751
HP:0001537	Umbilical hernia	5879	RAC1	ORPHA:500159
HP:0001537	Umbilical hernia	84231	TRAF7	OMIM:618164
HP:0001537	Umbilical hernia	51780	KDM3B	OMIM:618846
HP:0001537	Umbilical hernia	9487	PIGL	OMIM:280000
HP:0001537	Umbilical hernia	10584	COLEC10	ORPHA:293843
HP:0001537	Umbilical hernia	5648	MASP1	ORPHA:293843
HP:0001537	Umbilical hernia	78989	COLEC11	ORPHA:293843
HP:0001537	Umbilical hernia	63916	ELMO2	OMIM:606893
HP:0001537	Umbilical hernia	5479	PPIB	OMIM:259440
HP:0001537	Umbilical hernia	4621	MYH3	ORPHA:2990
HP:0001537	Umbilical hernia	10516	FBLN5	OMIM:219100
HP:0001537	Umbilical hernia	5727	PTCH1	ORPHA:77301
HP:0001537	Umbilical hernia	55553	SOX6	OMIM:618971
HP:0001537	Umbilical hernia	7543	ZFX	OMIM:301118
HP:0001537	Umbilical hernia	203068	TUBB	ORPHA:2505
HP:0001537	Umbilical hernia	10982	MAPRE2	ORPHA:2505
HP:0001538	Protuberant abdomen	2261	FGFR3	OMIM:187600
HP:0001538	Protuberant abdomen	1280	COL2A1	OMIM:151210
HP:0001538	Protuberant abdomen	1280	COL2A1	OMIM:184250
HP:0001538	Protuberant abdomen	1280	COL2A1	OMIM:200610
HP:0001538	Protuberant abdomen	9851	KIAA0753	OMIM:619479
HP:0001538	Protuberant abdomen	1594	CYP27B1	ORPHA:289157
HP:0001538	Protuberant abdomen	1594	CYP27B1	OMIM:264700
HP:0001538	Protuberant abdomen	120227	CYP2R1	ORPHA:289157
HP:0001538	Protuberant abdomen	579	NKX3-2	OMIM:613330
HP:0001538	Protuberant abdomen	79770	TXNDC15	OMIM:619879
HP:0001538	Protuberant abdomen	2542	SLC37A4	OMIM:232220
HP:0001538	Protuberant abdomen	2542	SLC37A4	ORPHA:79259
HP:0001538	Protuberant abdomen	22947	DUX4L1	ORPHA:269
HP:0001538	Protuberant abdomen	1789	DNMT3B	ORPHA:269
HP:0001538	Protuberant abdomen	2483	FRG1	ORPHA:269
HP:0001538	Protuberant abdomen	23347	SMCHD1	ORPHA:269
HP:0001538	Protuberant abdomen	100288687	DUX4	ORPHA:269
HP:0001538	Protuberant abdomen	6609	SMPD1	OMIM:257200
HP:0001538	Protuberant abdomen	1836	SLC26A2	ORPHA:56304
HP:0001538	Protuberant abdomen	23405	DICER1	OMIM:618272
HP:0001538	Protuberant abdomen	2200	FBN1	OMIM:608328
HP:0001538	Protuberant abdomen	3636	INPPL1	OMIM:258480
HP:0001538	Protuberant abdomen	51098	IFT52	OMIM:617102
HP:0001538	Protuberant abdomen	50485	SMARCAL1	OMIM:242900
HP:0001538	Protuberant abdomen	23169	SLC35D1	OMIM:269250
HP:0001538	Protuberant abdomen	388015	RTL1	ORPHA:96334
HP:0001538	Protuberant abdomen	8788	DLK1	ORPHA:96334
HP:0001538	Protuberant abdomen	55384	MEG3	ORPHA:96334
HP:0001538	Protuberant abdomen	79158	GNPTAB	OMIM:252500
HP:0001538	Protuberant abdomen	79158	GNPTAB	ORPHA:576
HP:0001538	Protuberant abdomen	145873	MESP2	OMIM:277300
HP:0001538	Protuberant abdomen	10683	DLL3	OMIM:277300
HP:0001538	Protuberant abdomen	3930	LBR	OMIM:215140
HP:0001538	Protuberant abdomen	3930	LBR	OMIM:618019
HP:0001538	Protuberant abdomen	9321	TRIP11	OMIM:200600
HP:0001538	Protuberant abdomen	10020	GNE	OMIM:269921
HP:0001538	Protuberant abdomen	3988	LIPA	OMIM:278000
HP:0001538	Protuberant abdomen	2990	GUSB	OMIM:253220
HP:0001538	Protuberant abdomen	2538	G6PC1	OMIM:232200
HP:0001538	Protuberant abdomen	7994	KAT6A	OMIM:616268
HP:0001538	Protuberant abdomen	1302	COL11A2	OMIM:614524
HP:0001538	Protuberant abdomen	55764	IFT122	OMIM:218330
HP:0001538	Protuberant abdomen	2317	FLNB	OMIM:108720
HP:0001538	Protuberant abdomen	2629	GBA1	OMIM:230900
HP:0001538	Protuberant abdomen	5745	PTH1R	ORPHA:50945
HP:0001538	Protuberant abdomen	1301	COL11A1	OMIM:228520
HP:0001538	Protuberant abdomen	7421	VDR	OMIM:277440
HP:0001538	Protuberant abdomen	2475	MTOR	ORPHA:457485
HP:0001538	Protuberant abdomen	29968	PSAT1	OMIM:616038
HP:0001538	Protuberant abdomen	3425	IDUA	OMIM:607014
HP:0001538	Protuberant abdomen	5696	PSMB8	OMIM:256040
HP:0001538	Protuberant abdomen	54808	DYM	ORPHA:239
HP:0001538	Protuberant abdomen	168667	BMPER	OMIM:608022
HP:0001539	Omphalocele	9361	LONP1	OMIM:600373
HP:0001539	Omphalocele	2294	FOXF1	OMIM:265380
HP:0001539	Omphalocele	388015	RTL1	ORPHA:254534
HP:0001539	Omphalocele	388015	RTL1	ORPHA:254528
HP:0001539	Omphalocele	388015	RTL1	ORPHA:96334
HP:0001539	Omphalocele	8788	DLK1	ORPHA:254534
HP:0001539	Omphalocele	8788	DLK1	ORPHA:254528
HP:0001539	Omphalocele	8788	DLK1	ORPHA:96334
HP:0001539	Omphalocele	55384	MEG3	ORPHA:254534
HP:0001539	Omphalocele	55384	MEG3	ORPHA:254528
HP:0001539	Omphalocele	55384	MEG3	ORPHA:96334
HP:0001539	Omphalocele	341640	FREM2	ORPHA:2052
HP:0001539	Omphalocele	80144	FRAS1	ORPHA:2052
HP:0001539	Omphalocele	23426	GRIP1	ORPHA:2052
HP:0001539	Omphalocele	28981	IFT81	OMIM:617895
HP:0001539	Omphalocele	5648	MASP1	OMIM:257920
HP:0001539	Omphalocele	23556	PIGN	ORPHA:2059
HP:0001539	Omphalocele	55112	DYNC2I1	ORPHA:93271
HP:0001539	Omphalocele	57560	IFT80	ORPHA:93271
HP:0001539	Omphalocele	57539	WDR35	ORPHA:93271
HP:0001539	Omphalocele	79659	DYNC2H1	ORPHA:93271
HP:0001539	Omphalocele	89891	DYNC2I2	ORPHA:93271
HP:0001539	Omphalocele	91754	NEK9	OMIM:617022
HP:0001539	Omphalocele	117581	TWIST2	OMIM:200110
HP:0001539	Omphalocele	117581	TWIST2	ORPHA:920
HP:0001539	Omphalocele	1855	DVL1	OMIM:616331
HP:0001539	Omphalocele	23384	SPECC1L	ORPHA:1519
HP:0001539	Omphalocele	23384	SPECC1L	OMIM:145420
HP:0001539	Omphalocele	51259	TMEM216	OMIM:603194
HP:0001539	Omphalocele	10225	CD96	OMIM:211750
HP:0001539	Omphalocele	10225	CD96	ORPHA:1308
HP:0001539	Omphalocele	55636	CHD7	ORPHA:138
HP:0001539	Omphalocele	55636	CHD7	OMIM:214800
HP:0001539	Omphalocele	9723	SEMA3E	ORPHA:138
HP:0001539	Omphalocele	7547	ZIC3	OMIM:306955
HP:0001539	Omphalocele	4784	NFIX	OMIM:602535
HP:0001539	Omphalocele	51360	MBTPS2	ORPHA:2273
HP:0001539	Omphalocele	51360	MBTPS2	OMIM:308205
HP:0001539	Omphalocele	64359	NXN	OMIM:618529
HP:0001539	Omphalocele	1147	CHUK	OMIM:613630
HP:0001539	Omphalocele	2260	FGFR1	OMIM:190440
HP:0001539	Omphalocele	2260	FGFR1	ORPHA:3366
HP:0001539	Omphalocele	158326	FREM1	ORPHA:3366
HP:0001539	Omphalocele	158326	FREM1	OMIM:248450
HP:0001539	Omphalocele	8626	TP63	ORPHA:93930
HP:0001539	Omphalocele	3670	ISL1	ORPHA:93930
HP:0001539	Omphalocele	4313	MMP2	ORPHA:371428
HP:0001539	Omphalocele	4323	MMP14	ORPHA:371428
HP:0001539	Omphalocele	1301	COL11A1	OMIM:228520
HP:0001539	Omphalocele	1301	COL11A1	ORPHA:2021
HP:0001539	Omphalocele	79796	ALG9	OMIM:263210
HP:0001539	Omphalocele	79796	ALG9	ORPHA:79328
HP:0001539	Omphalocele	7067	THRA	OMIM:614450
HP:0001539	Omphalocele	55012	PPP2R3C	OMIM:618419
HP:0001539	Omphalocele	5332	PLCB4	OMIM:620458
HP:0001539	Omphalocele	4036	LRP2	ORPHA:2143
HP:0001539	Omphalocele	4036	LRP2	OMIM:222448
HP:0001539	Omphalocele	10046	MAMLD1	ORPHA:95706
HP:0001539	Omphalocele	367	AR	ORPHA:95706
HP:0001539	Omphalocele	1302	COL11A2	ORPHA:2021
HP:0001539	Omphalocele	4524	MTHFR	ORPHA:563609
HP:0001539	Omphalocele	57216	VANGL2	ORPHA:563609
HP:0001539	Omphalocele	81788	NUAK2	ORPHA:563609
HP:0001539	Omphalocele	2316	FLNA	ORPHA:90652
HP:0001539	Omphalocele	2316	FLNA	ORPHA:2484
HP:0001539	Omphalocele	2316	FLNA	OMIM:304120
HP:0001539	Omphalocele	2316	FLNA	OMIM:309350
HP:0001539	Omphalocele	2316	FLNA	OMIM:311300
HP:0001539	Omphalocele	64840	PORCN	OMIM:305600
HP:0001539	Omphalocele	64840	PORCN	ORPHA:2092
HP:0001539	Omphalocele	57217	TTC7A	OMIM:243150
HP:0001539	Omphalocele	57217	TTC7A	ORPHA:436252
HP:0001539	Omphalocele	2737	GLI3	OMIM:175700
HP:0001539	Omphalocele	4659	PPP1R12A	OMIM:618820
HP:0001539	Omphalocele	5727	PTCH1	OMIM:610828
HP:0001539	Omphalocele	2571	GAD1	OMIM:619124
HP:0001539	Omphalocele	51715	RAB23	OMIM:201000
HP:0001539	Omphalocele	1857	DVL3	OMIM:616894
HP:0001539	Omphalocele	9772	TMEM94	OMIM:618316
HP:0001539	Omphalocele	25802	LMOD1	ORPHA:2241
HP:0001539	Omphalocele	4629	MYH11	ORPHA:2241
HP:0001539	Omphalocele	72	ACTG2	ORPHA:2241
HP:0001539	Omphalocele	4638	MYLK	ORPHA:2241
HP:0001539	Omphalocele	139285	AMER1	OMIM:300373
HP:0001539	Omphalocele	3090	HIC1	ORPHA:531
HP:0001539	Omphalocele	5048	PAFAH1B1	ORPHA:531
HP:0001539	Omphalocele	7531	YWHAE	ORPHA:531
HP:0001539	Omphalocele	2239	GPC4	ORPHA:373
HP:0001539	Omphalocele	2719	GPC3	ORPHA:373
HP:0001539	Omphalocele	153241	CEP120	OMIM:616300
HP:0001539	Omphalocele	1028	CDKN1C	OMIM:130650
HP:0001539	Omphalocele	3481	IGF2	OMIM:130650
HP:0001539	Omphalocele	3784	KCNQ1	OMIM:130650
HP:0001539	Omphalocele	10984	KCNQ1OT1	OMIM:130650
HP:0001539	Omphalocele	727857	BHLHA9	ORPHA:3329
HP:0001539	Omphalocele	5297	PI4KA	ORPHA:436252
HP:0001539	Omphalocele	2317	FLNB	ORPHA:1263
HP:0001539	Omphalocele	219844	HYLS1	OMIM:236680
HP:0001539	Omphalocele	3239	HOXD13	ORPHA:887
HP:0001539	Omphalocele	8295	TRRAP	OMIM:618454
HP:0001539	Omphalocele	54903	MKS1	OMIM:249000
HP:0001539	Omphalocele	54101	RIPK4	OMIM:263650
HP:0001539	Omphalocele	4281	MID1	ORPHA:2745
HP:0001539	Omphalocele	51339	DACT1	ORPHA:63260
HP:0001539	Omphalocele	7252	TSHB	OMIM:275100
HP:0000568	Microphthalmia	10682	EBP	ORPHA:401973
HP:0000568	Microphthalmia	10682	EBP	ORPHA:35173
HP:0000568	Microphthalmia	10682	EBP	OMIM:302960
HP:0000568	Microphthalmia	1409	CRYAA	OMIM:604219
HP:0000568	Microphthalmia	341640	FREM2	ORPHA:2052
HP:0000568	Microphthalmia	341640	FREM2	OMIM:617666
HP:0000568	Microphthalmia	341640	FREM2	OMIM:123570
HP:0000568	Microphthalmia	80144	FRAS1	ORPHA:2052
HP:0000568	Microphthalmia	23426	GRIP1	ORPHA:2052
HP:0000568	Microphthalmia	1763	DNA2	OMIM:620819
HP:0000568	Microphthalmia	3265	HRAS	ORPHA:2612
HP:0000568	Microphthalmia	3845	KRAS	ORPHA:2612
HP:0000568	Microphthalmia	4893	NRAS	ORPHA:2612
HP:0000568	Microphthalmia	1161	ERCC8	ORPHA:90324
HP:0000568	Microphthalmia	2074	ERCC6	ORPHA:90324
HP:0000568	Microphthalmia	2074	ERCC6	OMIM:214150
HP:0000568	Microphthalmia	2074	ERCC6	OMIM:133540
HP:0000568	Microphthalmia	2074	ERCC6	ORPHA:1466
HP:0000568	Microphthalmia	220	ALDH1A3	OMIM:615113
HP:0000568	Microphthalmia	220	ALDH1A3	ORPHA:35612
HP:0000568	Microphthalmia	83700	JAM3	OMIM:613730
HP:0000568	Microphthalmia	23556	PIGN	ORPHA:2059
HP:0000568	Microphthalmia	81857	MED25	OMIM:616449
HP:0000568	Microphthalmia	81857	MED25	ORPHA:464738
HP:0000568	Microphthalmia	55624	POMGNT1	OMIM:253280
HP:0000568	Microphthalmia	55624	POMGNT1	ORPHA:899
HP:0000568	Microphthalmia	55624	POMGNT1	ORPHA:370959
HP:0000568	Microphthalmia	84942	WDR73	OMIM:251300
HP:0000568	Microphthalmia	4693	NDP	OMIM:310600
HP:0000568	Microphthalmia	4693	NDP	ORPHA:91495
HP:0000568	Microphthalmia	4693	NDP	ORPHA:891
HP:0000568	Microphthalmia	4693	NDP	ORPHA:649
HP:0000568	Microphthalmia	4693	NDP	OMIM:305390
HP:0000568	Microphthalmia	10992	SF3B2	OMIM:164210
HP:0000568	Microphthalmia	9839	ZEB2	OMIM:235730
HP:0000568	Microphthalmia	9839	ZEB2	ORPHA:261552
HP:0000568	Microphthalmia	9839	ZEB2	ORPHA:261537
HP:0000568	Microphthalmia	55209	SETD5	ORPHA:404440
HP:0000568	Microphthalmia	9401	RECQL4	OMIM:268400
HP:0000568	Microphthalmia	146167	SLC38A8	OMIM:609218
HP:0000568	Microphthalmia	5932	RBBP8	OMIM:606744
HP:0000568	Microphthalmia	2073	ERCC5	OMIM:616570
HP:0000568	Microphthalmia	2073	ERCC5	OMIM:278780
HP:0000568	Microphthalmia	2073	ERCC5	ORPHA:1466
HP:0000568	Microphthalmia	2175	FANCA	OMIM:227650
HP:0000568	Microphthalmia	2175	FANCA	ORPHA:84
HP:0000568	Microphthalmia	23322	RPGRIP1L	OMIM:611561
HP:0000568	Microphthalmia	23322	RPGRIP1L	ORPHA:564
HP:0000568	Microphthalmia	84892	POMGNT2	OMIM:614830
HP:0000568	Microphthalmia	84892	POMGNT2	ORPHA:899
HP:0000568	Microphthalmia	27229	TUBGCP4	OMIM:616335
HP:0000568	Microphthalmia	25914	RTTN	OMIM:614833
HP:0000568	Microphthalmia	3149	HMGB3	OMIM:300915
HP:0000568	Microphthalmia	4149	MAX	OMIM:620712
HP:0000568	Microphthalmia	84197	POMK	OMIM:615249
HP:0000568	Microphthalmia	84197	POMK	ORPHA:899
HP:0000568	Microphthalmia	84197	POMK	ORPHA:370959
HP:0000568	Microphthalmia	9968	MED12	ORPHA:2728
HP:0000568	Microphthalmia	9968	MED12	OMIM:300895
HP:0000568	Microphthalmia	25782	RAB3GAP2	OMIM:212720
HP:0000568	Microphthalmia	25782	RAB3GAP2	OMIM:614225
HP:0000568	Microphthalmia	25782	RAB3GAP2	ORPHA:2510
HP:0000568	Microphthalmia	4286	MITF	OMIM:617306
HP:0000568	Microphthalmia	55636	CHD7	ORPHA:138
HP:0000568	Microphthalmia	55636	CHD7	OMIM:214800
HP:0000568	Microphthalmia	9723	SEMA3E	ORPHA:138
HP:0000568	Microphthalmia	2188	FANCF	OMIM:603467
HP:0000568	Microphthalmia	2188	FANCF	ORPHA:84
HP:0000568	Microphthalmia	84987	COX14	OMIM:619053
HP:0000568	Microphthalmia	220202	ATOH7	OMIM:221900
HP:0000568	Microphthalmia	220202	ATOH7	ORPHA:91495
HP:0000568	Microphthalmia	23418	CRB1	ORPHA:35612
HP:0000568	Microphthalmia	7439	BEST1	ORPHA:35612
HP:0000568	Microphthalmia	7439	BEST1	OMIM:193220
HP:0000568	Microphthalmia	26022	TMEM98	ORPHA:35612
HP:0000568	Microphthalmia	26022	TMEM98	OMIM:615972
HP:0000568	Microphthalmia	6657	SOX2	ORPHA:35612
HP:0000568	Microphthalmia	6657	SOX2	ORPHA:77298
HP:0000568	Microphthalmia	6657	SOX2	OMIM:206900
HP:0000568	Microphthalmia	646960	PRSS56	ORPHA:35612
HP:0000568	Microphthalmia	646960	PRSS56	OMIM:613517
HP:0000568	Microphthalmia	83552	MFRP	ORPHA:35612
HP:0000568	Microphthalmia	83552	MFRP	OMIM:609549
HP:0000568	Microphthalmia	83552	MFRP	OMIM:611040
HP:0000568	Microphthalmia	30062	RAX	ORPHA:35612
HP:0000568	Microphthalmia	30062	RAX	OMIM:611038
HP:0000568	Microphthalmia	5015	OTX2	ORPHA:35612
HP:0000568	Microphthalmia	5015	OTX2	OMIM:610125
HP:0000568	Microphthalmia	4990	SIX6	ORPHA:35612
HP:0000568	Microphthalmia	4990	SIX6	OMIM:212550
HP:0000568	Microphthalmia	4990	SIX6	OMIM:206900
HP:0000568	Microphthalmia	54880	BCOR	ORPHA:2712
HP:0000568	Microphthalmia	54880	BCOR	OMIM:309800
HP:0000568	Microphthalmia	54880	BCOR	ORPHA:568
HP:0000568	Microphthalmia	54880	BCOR	OMIM:300166
HP:0000568	Microphthalmia	54543	TOMM7	OMIM:620601
HP:0000568	Microphthalmia	2301	FOXE3	ORPHA:83461
HP:0000568	Microphthalmia	2301	FOXE3	OMIM:610256
HP:0000568	Microphthalmia	158326	FREM1	ORPHA:2717
HP:0000568	Microphthalmia	158326	FREM1	OMIM:248450
HP:0000568	Microphthalmia	672	BRCA1	ORPHA:84
HP:0000568	Microphthalmia	672	BRCA1	OMIM:617883
HP:0000568	Microphthalmia	10459	MAD2L2	ORPHA:84
HP:0000568	Microphthalmia	7516	XRCC2	ORPHA:84
HP:0000568	Microphthalmia	29089	UBE2T	ORPHA:84
HP:0000568	Microphthalmia	675	BRCA2	ORPHA:84
HP:0000568	Microphthalmia	55120	FANCL	ORPHA:84
HP:0000568	Microphthalmia	55120	FANCL	OMIM:614083
HP:0000568	Microphthalmia	2177	FANCD2	ORPHA:84
HP:0000568	Microphthalmia	2177	FANCD2	OMIM:227646
HP:0000568	Microphthalmia	2187	FANCB	ORPHA:84
HP:0000568	Microphthalmia	2187	FANCB	ORPHA:3412
HP:0000568	Microphthalmia	2176	FANCC	ORPHA:84
HP:0000568	Microphthalmia	2176	FANCC	OMIM:227645
HP:0000568	Microphthalmia	2178	FANCE	ORPHA:84
HP:0000568	Microphthalmia	2178	FANCE	OMIM:600901
HP:0000568	Microphthalmia	2189	FANCG	ORPHA:84
HP:0000568	Microphthalmia	2189	FANCG	OMIM:614082
HP:0000568	Microphthalmia	5888	RAD51	ORPHA:84
HP:0000568	Microphthalmia	5888	RAD51	OMIM:617244
HP:0000568	Microphthalmia	5889	RAD51C	ORPHA:84
HP:0000568	Microphthalmia	55159	RFWD3	ORPHA:84
HP:0000568	Microphthalmia	83990	BRIP1	ORPHA:84
HP:0000568	Microphthalmia	83990	BRIP1	OMIM:609054
HP:0000568	Microphthalmia	57697	FANCM	ORPHA:84
HP:0000568	Microphthalmia	79728	PALB2	ORPHA:84
HP:0000568	Microphthalmia	79728	PALB2	OMIM:610832
HP:0000568	Microphthalmia	84464	SLX4	ORPHA:84
HP:0000568	Microphthalmia	2072	ERCC4	ORPHA:84
HP:0000568	Microphthalmia	55215	FANCI	ORPHA:84
HP:0000568	Microphthalmia	55215	FANCI	OMIM:609053
HP:0000568	Microphthalmia	7020	TFAP2A	OMIM:113620
HP:0000568	Microphthalmia	23116	TOGARAM1	OMIM:619185
HP:0000568	Microphthalmia	23347	SMCHD1	OMIM:603457
HP:0000568	Microphthalmia	23347	SMCHD1	ORPHA:2250
HP:0000568	Microphthalmia	9896	FIG4	ORPHA:3472
HP:0000568	Microphthalmia	55697	VAC14	ORPHA:3472
HP:0000568	Microphthalmia	652	BMP4	OMIM:607932
HP:0000568	Microphthalmia	652	BMP4	ORPHA:139471
HP:0000568	Microphthalmia	9184	BUB3	ORPHA:1052
HP:0000568	Microphthalmia	699	BUB1	ORPHA:1052
HP:0000568	Microphthalmia	9702	CEP57	ORPHA:1052
HP:0000568	Microphthalmia	9319	TRIP13	ORPHA:1052
HP:0000568	Microphthalmia	701	BUB1B	ORPHA:1052
HP:0000568	Microphthalmia	22884	WDR37	OMIM:618652
HP:0000568	Microphthalmia	55714	TENM3	OMIM:615145
HP:0000568	Microphthalmia	56992	KIF15	OMIM:619981
HP:0000568	Microphthalmia	79867	TCTN2	OMIM:613885
HP:0000568	Microphthalmia	79867	TCTN2	ORPHA:564
HP:0000568	Microphthalmia	57167	SALL4	ORPHA:959
HP:0000568	Microphthalmia	57167	SALL4	OMIM:607323
HP:0000568	Microphthalmia	64132	XYLT2	ORPHA:85194
HP:0000568	Microphthalmia	7855	FZD5	OMIM:620731
HP:0000568	Microphthalmia	25942	SIN3A	OMIM:613406
HP:0000568	Microphthalmia	4929	NR4A2	ORPHA:1617
HP:0000568	Microphthalmia	10716	TBR1	ORPHA:1617
HP:0000568	Microphthalmia	2697	GJA1	OMIM:164200
HP:0000568	Microphthalmia	2697	GJA1	OMIM:257850
HP:0000568	Microphthalmia	63901	FAM111A	OMIM:602361
HP:0000568	Microphthalmia	63901	FAM111A	OMIM:127000
HP:0000568	Microphthalmia	26227	PHGDH	OMIM:256520
HP:0000568	Microphthalmia	11081	KERA	OMIM:217300
HP:0000568	Microphthalmia	3981	LIG4	ORPHA:235
HP:0000568	Microphthalmia	54888	NSUN2	ORPHA:235
HP:0000568	Microphthalmia	392255	GDF6	OMIM:613094
HP:0000568	Microphthalmia	8260	NAA10	OMIM:309800
HP:0000568	Microphthalmia	8260	NAA10	ORPHA:568
HP:0000568	Microphthalmia	6905	TBCE	OMIM:241410
HP:0000568	Microphthalmia	6608	SMO	OMIM:601707
HP:0000568	Microphthalmia	6608	SMO	ORPHA:1553
HP:0000568	Microphthalmia	54539	NDUFB11	OMIM:309801
HP:0000568	Microphthalmia	54539	NDUFB11	ORPHA:2556
HP:0000568	Microphthalmia	54539	NDUFB11	OMIM:300952
HP:0000568	Microphthalmia	1349	COX7B	OMIM:309801
HP:0000568	Microphthalmia	1349	COX7B	OMIM:300887
HP:0000568	Microphthalmia	1349	COX7B	ORPHA:2556
HP:0000568	Microphthalmia	3052	HCCS	OMIM:309801
HP:0000568	Microphthalmia	3052	HCCS	ORPHA:2556
HP:0000568	Microphthalmia	56006	SMG9	OMIM:616920
HP:0000568	Microphthalmia	4519	MT-CYB	ORPHA:137675
HP:0000568	Microphthalmia	10013	HDAC6	ORPHA:163966
HP:0000568	Microphthalmia	10013	HDAC6	OMIM:300863
HP:0000568	Microphthalmia	79770	TXNDC15	OMIM:619879
HP:0000568	Microphthalmia	79770	TXNDC15	ORPHA:564
HP:0000568	Microphthalmia	1282	COL4A1	OMIM:175780
HP:0000568	Microphthalmia	1282	COL4A1	ORPHA:899
HP:0000568	Microphthalmia	4952	OCRL	OMIM:309000
HP:0000568	Microphthalmia	4952	OCRL	ORPHA:534
HP:0000568	Microphthalmia	157570	ESCO2	ORPHA:3103
HP:0000568	Microphthalmia	157570	ESCO2	OMIM:268300
HP:0000568	Microphthalmia	8085	KMT2D	OMIM:620186
HP:0000568	Microphthalmia	8085	KMT2D	ORPHA:2322
HP:0000568	Microphthalmia	23137	SMC5	OMIM:620185
HP:0000568	Microphthalmia	8517	IKBKG	ORPHA:464
HP:0000568	Microphthalmia	8517	IKBKG	OMIM:308300
HP:0000568	Microphthalmia	5727	PTCH1	OMIM:610828
HP:0000568	Microphthalmia	5727	PTCH1	OMIM:109400
HP:0000568	Microphthalmia	5727	PTCH1	ORPHA:77301
HP:0000568	Microphthalmia	2736	GLI2	OMIM:610829
HP:0000568	Microphthalmia	79718	TBL1XR1	OMIM:602342
HP:0000568	Microphthalmia	79718	TBL1XR1	ORPHA:487825
HP:0000568	Microphthalmia	4089	SMAD4	OMIM:139210
HP:0000568	Microphthalmia	5159	PDGFRB	OMIM:601812
HP:0000568	Microphthalmia	3913	LAMB2	OMIM:614199
HP:0000568	Microphthalmia	3913	LAMB2	OMIM:609049
HP:0000568	Microphthalmia	7837	PXDN	OMIM:269400
HP:0000568	Microphthalmia	63895	PIEZO2	OMIM:248700
HP:0000568	Microphthalmia	64220	STRA6	ORPHA:2470
HP:0000568	Microphthalmia	7477	WNT7B	ORPHA:2470
HP:0000568	Microphthalmia	5915	RARB	ORPHA:2470
HP:0000568	Microphthalmia	5915	RARB	OMIM:615524
HP:0000568	Microphthalmia	285203	EOGT	OMIM:615297
HP:0000568	Microphthalmia	285203	EOGT	ORPHA:974
HP:0000568	Microphthalmia	57479	PRR12	OMIM:619539
HP:0000568	Microphthalmia	729920	CRPPA	OMIM:614643
HP:0000568	Microphthalmia	729920	CRPPA	ORPHA:899
HP:0000568	Microphthalmia	80184	CEP290	OMIM:611134
HP:0000568	Microphthalmia	80184	CEP290	ORPHA:564
HP:0000568	Microphthalmia	9928	KIF14	OMIM:617914
HP:0000568	Microphthalmia	11023	VAX1	OMIM:614402
HP:0000568	Microphthalmia	93426	SYCE1	OMIM:616947
HP:0000568	Microphthalmia	3166	HMX1	OMIM:612109
HP:0000568	Microphthalmia	6513	SLC2A1	ORPHA:1942
HP:0000568	Microphthalmia	8831	SYNGAP1	ORPHA:1942
HP:0000568	Microphthalmia	1173	AP2M1	ORPHA:1942
HP:0000568	Microphthalmia	6323	SCN1A	ORPHA:1942
HP:0000568	Microphthalmia	340533	NEXMIF	ORPHA:1942
HP:0000568	Microphthalmia	1106	CHD2	ORPHA:1942
HP:0000568	Microphthalmia	6529	SLC6A1	ORPHA:1942
HP:0000568	Microphthalmia	2260	FGFR1	ORPHA:2117
HP:0000568	Microphthalmia	2260	FGFR1	OMIM:613001
HP:0000568	Microphthalmia	257	ALX3	OMIM:136760
HP:0000568	Microphthalmia	257	ALX3	ORPHA:391474
HP:0000568	Microphthalmia	148789	B3GALNT2	OMIM:615181
HP:0000568	Microphthalmia	148789	B3GALNT2	ORPHA:899
HP:0000568	Microphthalmia	404672	GTF2H5	OMIM:616395
HP:0000568	Microphthalmia	54903	MKS1	OMIM:249000
HP:0000568	Microphthalmia	54903	MKS1	ORPHA:564
HP:0000568	Microphthalmia	54101	RIPK4	OMIM:263650
HP:0000568	Microphthalmia	60529	ALX4	ORPHA:228390
HP:0000568	Microphthalmia	60529	ALX4	OMIM:613451
HP:0000568	Microphthalmia	26173	INTS1	OMIM:618571
HP:0000568	Microphthalmia	2303	FOXC2	OMIM:153400
HP:0000568	Microphthalmia	2703	GJA8	OMIM:612474
HP:0000568	Microphthalmia	2702	GJA5	OMIM:612474
HP:0000568	Microphthalmia	27152	INTU	OMIM:617925
HP:0000568	Microphthalmia	3720	JARID2	OMIM:620098
HP:0000568	Microphthalmia	84181	CHD6	ORPHA:2108
HP:0000568	Microphthalmia	2737	GLI3	ORPHA:672
HP:0000568	Microphthalmia	2737	GLI3	OMIM:146510
HP:0000568	Microphthalmia	22827	PUF60	ORPHA:508498
HP:0000568	Microphthalmia	160418	TMTC3	OMIM:617255
HP:0000568	Microphthalmia	8092	ALX1	OMIM:613456
HP:0000568	Microphthalmia	8092	ALX1	ORPHA:306542
HP:0000568	Microphthalmia	65062	TMEM237	OMIM:614424
HP:0000568	Microphthalmia	65062	TMEM237	ORPHA:564
HP:0000568	Microphthalmia	10586	MAB21L2	OMIM:615877
HP:0000568	Microphthalmia	51259	TMEM216	OMIM:608091
HP:0000568	Microphthalmia	51259	TMEM216	OMIM:603194
HP:0000568	Microphthalmia	51259	TMEM216	ORPHA:564
HP:0000568	Microphthalmia	5309	PITX3	OMIM:610623
HP:0000568	Microphthalmia	8322	FZD4	ORPHA:91495
HP:0000568	Microphthalmia	8322	FZD4	ORPHA:891
HP:0000568	Microphthalmia	7473	WNT3	ORPHA:3301
HP:0000568	Microphthalmia	7473	WNT3	OMIM:273395
HP:0000568	Microphthalmia	340419	RSPO2	ORPHA:3301
HP:0000568	Microphthalmia	9496	TBX4	ORPHA:3301
HP:0000568	Microphthalmia	23384	SPECC1L	OMIM:600251
HP:0000568	Microphthalmia	170302	ARX	OMIM:308350
HP:0000568	Microphthalmia	10733	PLK4	OMIM:616171
HP:0000568	Microphthalmia	473	RERE	OMIM:616975
HP:0000568	Microphthalmia	473	RERE	ORPHA:494344
HP:0000568	Microphthalmia	1806	DPYD	OMIM:274270
HP:0000568	Microphthalmia	23291	FBXW11	OMIM:618914
HP:0000568	Microphthalmia	7403	KDM6A	ORPHA:2322
HP:0000568	Microphthalmia	79644	SRD5A3	OMIM:612379
HP:0000568	Microphthalmia	10413	YAP1	ORPHA:1473
HP:0000568	Microphthalmia	10413	YAP1	OMIM:120433
HP:0000568	Microphthalmia	10982	MAPRE2	OMIM:616734
HP:0000568	Microphthalmia	10982	MAPRE2	ORPHA:2505
HP:0000568	Microphthalmia	4041	LRP5	OMIM:259770
HP:0000568	Microphthalmia	4041	LRP5	ORPHA:2788
HP:0000568	Microphthalmia	4041	LRP5	ORPHA:891
HP:0000568	Microphthalmia	2068	ERCC2	OMIM:610756
HP:0000568	Microphthalmia	2068	ERCC2	ORPHA:1466
HP:0000568	Microphthalmia	2068	ERCC2	OMIM:601675
HP:0000568	Microphthalmia	2068	ERCC2	OMIM:278730
HP:0000568	Microphthalmia	29954	POMT2	OMIM:236670
HP:0000568	Microphthalmia	29954	POMT2	ORPHA:899
HP:0000568	Microphthalmia	29954	POMT2	ORPHA:370959
HP:0000568	Microphthalmia	29954	POMT2	OMIM:613150
HP:0000568	Microphthalmia	79147	FKRP	OMIM:236670
HP:0000568	Microphthalmia	79147	FKRP	ORPHA:899
HP:0000568	Microphthalmia	79147	FKRP	ORPHA:370959
HP:0000568	Microphthalmia	79147	FKRP	OMIM:613153
HP:0000568	Microphthalmia	2218	FKTN	OMIM:236670
HP:0000568	Microphthalmia	2218	FKTN	ORPHA:899
HP:0000568	Microphthalmia	2218	FKTN	OMIM:253800
HP:0000568	Microphthalmia	10585	POMT1	OMIM:236670
HP:0000568	Microphthalmia	10585	POMT1	ORPHA:899
HP:0000568	Microphthalmia	10585	POMT1	ORPHA:370959
HP:0000568	Microphthalmia	10585	POMT1	OMIM:613155
HP:0000568	Microphthalmia	9215	LARGE1	OMIM:236670
HP:0000568	Microphthalmia	9215	LARGE1	ORPHA:899
HP:0000568	Microphthalmia	10329	RXYLT1	ORPHA:899
HP:0000568	Microphthalmia	1605	DAG1	ORPHA:899
HP:0000568	Microphthalmia	1605	DAG1	OMIM:616538
HP:0000568	Microphthalmia	11041	B4GAT1	ORPHA:899
HP:0000568	Microphthalmia	4810	NHS	OMIM:302350
HP:0000568	Microphthalmia	4810	NHS	ORPHA:627
HP:0000568	Microphthalmia	22930	RAB3GAP1	OMIM:600118
HP:0000568	Microphthalmia	22930	RAB3GAP1	ORPHA:2510
HP:0000568	Microphthalmia	203068	TUBB	OMIM:615771
HP:0000568	Microphthalmia	203068	TUBB	OMIM:156610
HP:0000568	Microphthalmia	203068	TUBB	ORPHA:2505
HP:0000568	Microphthalmia	92255	LMBRD2	OMIM:619694
HP:0000568	Microphthalmia	2067	ERCC1	ORPHA:1466
HP:0000568	Microphthalmia	5925	RB1	ORPHA:1587
HP:0000568	Microphthalmia	23511	NUP188	OMIM:618804
HP:0000568	Microphthalmia	26007	TKFC	OMIM:618805
HP:0000568	Microphthalmia	1147	CHUK	OMIM:619339
HP:0000568	Microphthalmia	2248	FGF3	ORPHA:2791
HP:0000568	Microphthalmia	1063	CENPF	OMIM:243605
HP:0000568	Microphthalmia	1312	COMT	ORPHA:567
HP:0000568	Microphthalmia	221037	JMJD1C	ORPHA:567
HP:0000568	Microphthalmia	2812	GP1BB	ORPHA:567
HP:0000568	Microphthalmia	6239	RREB1	ORPHA:567
HP:0000568	Microphthalmia	6899	TBX1	ORPHA:567
HP:0000568	Microphthalmia	7290	HIRA	ORPHA:567
HP:0000568	Microphthalmia	9632	SEC24C	ORPHA:567
HP:0000568	Microphthalmia	7353	UFD1	ORPHA:567
HP:0000568	Microphthalmia	421	ARVCF	ORPHA:567
HP:0000568	Microphthalmia	64093	SMOC1	ORPHA:1106
HP:0000568	Microphthalmia	64093	SMOC1	OMIM:206920
HP:0000568	Microphthalmia	444	ASPH	OMIM:601552
HP:0000568	Microphthalmia	84314	TMEM107	ORPHA:564
HP:0000568	Microphthalmia	26123	TCTN3	ORPHA:564
HP:0000568	Microphthalmia	80776	B9D2	ORPHA:564
HP:0000568	Microphthalmia	79600	TCTN1	ORPHA:564
HP:0000568	Microphthalmia	57096	RPGRIP1	ORPHA:564
HP:0000568	Microphthalmia	79848	CSPP1	ORPHA:564
HP:0000568	Microphthalmia	57545	CC2D2A	ORPHA:564
HP:0000568	Microphthalmia	79583	TMEM231	ORPHA:564
HP:0000568	Microphthalmia	91147	TMEM67	ORPHA:564
HP:0000568	Microphthalmia	27077	B9D1	ORPHA:564
HP:0000568	Microphthalmia	338917	VSX2	OMIM:610092
HP:0000568	Microphthalmia	338917	VSX2	OMIM:610093
HP:0000568	Microphthalmia	1822	ATN1	OMIM:618494
HP:0000568	Microphthalmia	5147	PDE6D	OMIM:615665
HP:0000568	Microphthalmia	128637	TBC1D20	OMIM:615663
HP:0000568	Microphthalmia	128637	TBC1D20	ORPHA:2510
HP:0000568	Microphthalmia	2071	ERCC3	OMIM:610651
HP:0000568	Microphthalmia	55644	OSGEP	OMIM:617729
HP:0000568	Microphthalmia	57572	DOCK6	OMIM:614219
HP:0000568	Microphthalmia	57572	DOCK6	ORPHA:974
HP:0000568	Microphthalmia	29980	DONSON	OMIM:251230
HP:0000568	Microphthalmia	60	ACTB	OMIM:243310
HP:0000568	Microphthalmia	668	FOXL2	OMIM:110100
HP:0000568	Microphthalmia	64840	PORCN	OMIM:305600
HP:0000568	Microphthalmia	64840	PORCN	ORPHA:2092
HP:0000568	Microphthalmia	157680	VPS13B	ORPHA:193
HP:0000568	Microphthalmia	71	ACTG1	OMIM:614583
HP:0000568	Microphthalmia	9150	CTDP1	ORPHA:48431
HP:0000568	Microphthalmia	5080	PAX6	ORPHA:250923
HP:0000568	Microphthalmia	5080	PAX6	OMIM:120200
HP:0000568	Microphthalmia	5080	PAX6	OMIM:604229
HP:0000568	Microphthalmia	2296	FOXC1	ORPHA:250923
HP:0000568	Microphthalmia	54765	TRIM44	ORPHA:250923
HP:0000568	Microphthalmia	22931	RAB18	OMIM:614222
HP:0000568	Microphthalmia	22931	RAB18	ORPHA:2510
HP:0000568	Microphthalmia	29957	SLC25A24	OMIM:612289
HP:0000568	Microphthalmia	57514	ARHGAP31	OMIM:100300
HP:0000568	Microphthalmia	57514	ARHGAP31	ORPHA:974
HP:0000568	Microphthalmia	4329	ALDH6A1	OMIM:614105
HP:0000568	Microphthalmia	6469	SHH	OMIM:611638
HP:0000568	Microphthalmia	6469	SHH	OMIM:147250
HP:0000568	Microphthalmia	84172	POLR1B	ORPHA:861
HP:0000568	Microphthalmia	9533	POLR1C	ORPHA:861
HP:0000568	Microphthalmia	51082	POLR1D	ORPHA:861
HP:0000568	Microphthalmia	6949	TCOF1	ORPHA:861
HP:0000568	Microphthalmia	29925	GMPPB	ORPHA:370959
HP:0000568	Microphthalmia	136647	MPLKIP	OMIM:234050
HP:0000568	Microphthalmia	5290	PIK3CA	OMIM:602501
HP:0000568	Microphthalmia	374879	ZNF699	OMIM:619488
HP:0000568	Microphthalmia	5130	PCYT1A	ORPHA:85167
HP:0000568	Microphthalmia	5130	PCYT1A	OMIM:608940
HP:0000568	Microphthalmia	3832	KIF11	ORPHA:2526
HP:0000568	Microphthalmia	3832	KIF11	OMIM:152950
HP:0000568	Microphthalmia	6299	SALL1	ORPHA:857
HP:0000568	Microphthalmia	51339	DACT1	ORPHA:857
HP:0000568	Microphthalmia	9573	GDF3	OMIM:613704
HP:0000568	Microphthalmia	3516	RBPJ	ORPHA:974
HP:0000568	Microphthalmia	4851	NOTCH1	ORPHA:974
HP:0000568	Microphthalmia	54567	DLL4	ORPHA:974
HP:0000568	Microphthalmia	113246	C12orf57	OMIM:218340
HP:0000568	Microphthalmia	5264	PHYH	ORPHA:773
HP:0000568	Microphthalmia	5191	PEX7	ORPHA:773
HP:0000568	Microphthalmia	1499	CTNNB1	ORPHA:891
HP:0000568	Microphthalmia	23554	TSPAN12	ORPHA:891
HP:0000568	Microphthalmia	79797	ZNF408	ORPHA:891
HP:0000568	Microphthalmia	1736	DKC1	OMIM:301108
HP:0000568	Microphthalmia	10084	PQBP1	OMIM:309500
HP:0000568	Microphthalmia	57020	VPS35L	OMIM:619135
HP:0000568	Microphthalmia	153241	CEP120	OMIM:616300
HP:0000568	Microphthalmia	51360	MBTPS2	ORPHA:85284
HP:0000568	Microphthalmia	387	RHOA	OMIM:618727
HP:0000568	Microphthalmia	5950	RBP4	OMIM:616428
HP:0000568	Microphthalmia	5557	PRIM1	OMIM:620005
HP:0000568	Microphthalmia	219844	HYLS1	OMIM:236680
HP:0000568	Microphthalmia	219844	HYLS1	ORPHA:2189
HP:0000568	Microphthalmia	6496	SIX3	OMIM:157170
HP:0000568	Microphthalmia	5076	PAX2	OMIM:120330
HP:0000568	Microphthalmia	6913	TBX15	OMIM:260660
HP:0000568	Microphthalmia	85378	TUBGCP6	OMIM:251270
HP:0000568	Microphthalmia	10058	ABCB6	OMIM:614497
HP:0000568	Microphthalmia	374654	KIF7	ORPHA:2189
HP:0000568	Microphthalmia	6650	CAPN15	OMIM:619318
HP:0000568	Microphthalmia	833	CARS1	ORPHA:33364
HP:0000568	Microphthalmia	7737	RNF113A	ORPHA:33364
HP:0000568	Microphthalmia	6897	TARS1	ORPHA:33364
HP:0000568	Microphthalmia	16	AARS1	ORPHA:33364
HP:0000568	Microphthalmia	2961	GTF2E2	ORPHA:33364
HP:0000568	Microphthalmia	23389	MED13L	ORPHA:369891
HP:0000568	Microphthalmia	29887	SNX10	OMIM:615085
HP:0000568	Microphthalmia	114928	GPRASP2	OMIM:301018
HP:0000588	Optic disc coloboma	3476	IGBP1	OMIM:300472
HP:0000588	Optic disc coloboma	3476	IGBP1	ORPHA:52055
HP:0000588	Optic disc coloboma	5080	PAX6	ORPHA:35737
HP:0000588	Optic disc coloboma	5080	PAX6	OMIM:120430
HP:0000588	Optic disc coloboma	5080	PAX6	OMIM:120200
HP:0000588	Optic disc coloboma	4072	EPCAM	ORPHA:92050
HP:0000588	Optic disc coloboma	105371045	PERCC1	ORPHA:92050
HP:0000588	Optic disc coloboma	54880	BCOR	OMIM:309800
HP:0000588	Optic disc coloboma	54880	BCOR	ORPHA:568
HP:0000588	Optic disc coloboma	8260	NAA10	OMIM:309800
HP:0000588	Optic disc coloboma	8260	NAA10	ORPHA:568
HP:0000588	Optic disc coloboma	54496	PRMT7	OMIM:617157
HP:0000588	Optic disc coloboma	1663	DDX11	OMIM:613398
HP:0000588	Optic disc coloboma	25836	NIPBL	OMIM:122470
HP:0000588	Optic disc coloboma	2301	FOXE3	ORPHA:83461
HP:0000588	Optic disc coloboma	51259	TMEM216	OMIM:608091
HP:0000588	Optic disc coloboma	55733	HHAT	OMIM:600092
HP:0000588	Optic disc coloboma	56623	INPP5E	OMIM:213300
HP:0000588	Optic disc coloboma	56623	INPP5E	ORPHA:1454
HP:0000588	Optic disc coloboma	8085	KMT2D	OMIM:620186
HP:0000588	Optic disc coloboma	5076	PAX2	OMIM:120330
HP:0000588	Optic disc coloboma	5076	PAX2	ORPHA:1475
HP:0000588	Optic disc coloboma	71	ACTG1	ORPHA:2995
HP:0000588	Optic disc coloboma	60	ACTB	ORPHA:2995
HP:0000588	Optic disc coloboma	10653	SPINT2	OMIM:270420
HP:0000588	Optic disc coloboma	8295	TRRAP	OMIM:618454
HP:0000588	Optic disc coloboma	91147	TMEM67	ORPHA:1454
HP:0000588	Optic disc coloboma	23322	RPGRIP1L	ORPHA:1454
HP:0000588	Optic disc coloboma	57545	CC2D2A	ORPHA:1454
HP:0000588	Optic disc coloboma	6608	SMO	ORPHA:1553
HP:0000588	Optic disc coloboma	83479	DDX59	OMIM:174300
HP:0000588	Optic disc coloboma	57167	SALL4	ORPHA:959
HP:0000588	Optic disc coloboma	7855	FZD5	OMIM:620731
HP:0000588	Optic disc coloboma	26005	C2CD3	OMIM:615948
HP:0000588	Optic disc coloboma	5130	PCYT1A	OMIM:608940
HP:0000588	Optic disc coloboma	6297	SALL2	OMIM:216820
HP:0004791	Esophageal ulceration	51008	ASCC1	OMIM:614266
HP:0004791	Esophageal ulceration	115908	CTHRC1	OMIM:614266
HP:0004791	Esophageal ulceration	4481	MSR1	OMIM:614266
HP:0004791	Esophageal ulceration	4312	MMP1	ORPHA:79408
HP:0004791	Esophageal ulceration	1294	COL7A1	ORPHA:79408
HP:0004791	Esophageal ulceration	6774	STAT3	OMIM:147060
HP:0004791	Esophageal ulceration	5321	PLA2G4A	OMIM:618372
HP:0004792	Rectoperineal fistula	1024	CDK8	OMIM:618748
HP:0004792	Rectoperineal fistula	6299	SALL1	OMIM:107480
HP:0004792	Rectoperineal fistula	6299	SALL1	ORPHA:857
HP:0004792	Rectoperineal fistula	51339	DACT1	ORPHA:857
HP:0002020	Gastroesophageal reflux	23394	ADNP	ORPHA:404448
HP:0002020	Gastroesophageal reflux	23394	ADNP	OMIM:615873
HP:0002020	Gastroesophageal reflux	26235	FBXL4	OMIM:615471
HP:0002020	Gastroesophageal reflux	8367	H4C5	OMIM:619950
HP:0002020	Gastroesophageal reflux	340533	NEXMIF	OMIM:300912
HP:0002020	Gastroesophageal reflux	340533	NEXMIF	ORPHA:85277
HP:0002020	Gastroesophageal reflux	57128	LYRM4	OMIM:615595
HP:0002020	Gastroesophageal reflux	2132	EXT2	OMIM:616682
HP:0002020	Gastroesophageal reflux	2132	EXT2	ORPHA:466926
HP:0002020	Gastroesophageal reflux	8518	ELP1	ORPHA:1764
HP:0002020	Gastroesophageal reflux	8518	ELP1	OMIM:223900
HP:0002020	Gastroesophageal reflux	8425	LTBP4	OMIM:613177
HP:0002020	Gastroesophageal reflux	1161	ERCC8	ORPHA:90324
HP:0002020	Gastroesophageal reflux	2074	ERCC6	ORPHA:90324
HP:0002020	Gastroesophageal reflux	51008	ASCC1	OMIM:614266
HP:0002020	Gastroesophageal reflux	115908	CTHRC1	OMIM:614266
HP:0002020	Gastroesophageal reflux	4481	MSR1	OMIM:614266
HP:0002020	Gastroesophageal reflux	5238	PGM3	ORPHA:443811
HP:0002020	Gastroesophageal reflux	4897	NRCAM	OMIM:619833
HP:0002020	Gastroesophageal reflux	81857	MED25	OMIM:616449
HP:0002020	Gastroesophageal reflux	79848	CSPP1	ORPHA:397715
HP:0002020	Gastroesophageal reflux	9786	KIAA0586	ORPHA:397715
HP:0002020	Gastroesophageal reflux	4312	MMP1	ORPHA:79408
HP:0002020	Gastroesophageal reflux	1294	COL7A1	ORPHA:79408
HP:0002020	Gastroesophageal reflux	1294	COL7A1	ORPHA:89842
HP:0002020	Gastroesophageal reflux	7259	TSPYL1	OMIM:608800
HP:0002020	Gastroesophageal reflux	7259	TSPYL1	ORPHA:168593
HP:0002020	Gastroesophageal reflux	116931	MED12L	OMIM:618872
HP:0002020	Gastroesophageal reflux	161582	DNAAF4	OMIM:615482
HP:0002020	Gastroesophageal reflux	3020	H3-3A	OMIM:619720
HP:0002020	Gastroesophageal reflux	3021	H3-3B	OMIM:619721
HP:0002020	Gastroesophageal reflux	65993	MRPS34	OMIM:617664
HP:0002020	Gastroesophageal reflux	80816	ASXL3	OMIM:615485
HP:0002020	Gastroesophageal reflux	1644	DDC	ORPHA:35708
HP:0002020	Gastroesophageal reflux	1644	DDC	OMIM:608643
HP:0002020	Gastroesophageal reflux	283489	CHAMP1	OMIM:616579
HP:0002020	Gastroesophageal reflux	8239	USP9X	OMIM:300919
HP:0002020	Gastroesophageal reflux	166378	AFG2A	OMIM:616577
HP:0002020	Gastroesophageal reflux	84466	MEGF10	OMIM:614399
HP:0002020	Gastroesophageal reflux	84520	GON7	OMIM:619603
HP:0002020	Gastroesophageal reflux	55636	CHD7	ORPHA:138
HP:0002020	Gastroesophageal reflux	9723	SEMA3E	ORPHA:138
HP:0002020	Gastroesophageal reflux	3908	LAMA2	ORPHA:258
HP:0002020	Gastroesophageal reflux	5428	POLG	ORPHA:298
HP:0002020	Gastroesophageal reflux	5428	POLG	ORPHA:254892
HP:0002020	Gastroesophageal reflux	1890	TYMP	ORPHA:298
HP:0002020	Gastroesophageal reflux	3980	LIG3	ORPHA:298
HP:0002020	Gastroesophageal reflux	50484	RRM2B	ORPHA:298
HP:0002020	Gastroesophageal reflux	50484	RRM2B	ORPHA:254892
HP:0002020	Gastroesophageal reflux	6660	SOX5	ORPHA:313892
HP:0002020	Gastroesophageal reflux	535	ATP6V0A1	OMIM:619971
HP:0002020	Gastroesophageal reflux	3190	HNRNPK	OMIM:616580
HP:0002020	Gastroesophageal reflux	816	CAMK2B	OMIM:617799
HP:0002020	Gastroesophageal reflux	9968	MED12	ORPHA:93932
HP:0002020	Gastroesophageal reflux	7994	KAT6A	ORPHA:457193
HP:0002020	Gastroesophageal reflux	7994	KAT6A	OMIM:616268
HP:0002020	Gastroesophageal reflux	1183	CLCN4	ORPHA:485350
HP:0002020	Gastroesophageal reflux	5832	ALDH18A1	OMIM:601162
HP:0002020	Gastroesophageal reflux	5832	ALDH18A1	ORPHA:447757
HP:0002020	Gastroesophageal reflux	1277	COL1A1	ORPHA:287
HP:0002020	Gastroesophageal reflux	1289	COL5A1	ORPHA:287
HP:0002020	Gastroesophageal reflux	1290	COL5A2	ORPHA:287
HP:0002020	Gastroesophageal reflux	7020	TFAP2A	OMIM:113620
HP:0002020	Gastroesophageal reflux	10484	SEC23A	OMIM:607812
HP:0002020	Gastroesophageal reflux	22872	SEC31A	OMIM:618651
HP:0002020	Gastroesophageal reflux	4297	KMT2A	ORPHA:319182
HP:0002020	Gastroesophageal reflux	28514	DLL1	ORPHA:93926
HP:0002020	Gastroesophageal reflux	28514	DLL1	ORPHA:93924
HP:0002020	Gastroesophageal reflux	28514	DLL1	ORPHA:93925
HP:0002020	Gastroesophageal reflux	28514	DLL1	ORPHA:220386
HP:0002020	Gastroesophageal reflux	2253	FGF8	ORPHA:93926
HP:0002020	Gastroesophageal reflux	2253	FGF8	ORPHA:93924
HP:0002020	Gastroesophageal reflux	2253	FGF8	ORPHA:93925
HP:0002020	Gastroesophageal reflux	2253	FGF8	ORPHA:220386
HP:0002020	Gastroesophageal reflux	6496	SIX3	ORPHA:93926
HP:0002020	Gastroesophageal reflux	6496	SIX3	ORPHA:93924
HP:0002020	Gastroesophageal reflux	6496	SIX3	ORPHA:93925
HP:0002020	Gastroesophageal reflux	6496	SIX3	ORPHA:220386
HP:0002020	Gastroesophageal reflux	7050	TGIF1	ORPHA:93926
HP:0002020	Gastroesophageal reflux	7050	TGIF1	ORPHA:93924
HP:0002020	Gastroesophageal reflux	7050	TGIF1	ORPHA:93925
HP:0002020	Gastroesophageal reflux	7050	TGIF1	ORPHA:220386
HP:0002020	Gastroesophageal reflux	4838	NODAL	ORPHA:93926
HP:0002020	Gastroesophageal reflux	4838	NODAL	ORPHA:93924
HP:0002020	Gastroesophageal reflux	4838	NODAL	ORPHA:93925
HP:0002020	Gastroesophageal reflux	4838	NODAL	ORPHA:220386
HP:0002020	Gastroesophageal reflux	6469	SHH	ORPHA:93926
HP:0002020	Gastroesophageal reflux	6469	SHH	ORPHA:93924
HP:0002020	Gastroesophageal reflux	6469	SHH	ORPHA:93925
HP:0002020	Gastroesophageal reflux	6469	SHH	ORPHA:220386
HP:0002020	Gastroesophageal reflux	7546	ZIC2	ORPHA:93926
HP:0002020	Gastroesophageal reflux	7546	ZIC2	ORPHA:93924
HP:0002020	Gastroesophageal reflux	7546	ZIC2	ORPHA:93925
HP:0002020	Gastroesophageal reflux	7546	ZIC2	ORPHA:220386
HP:0002020	Gastroesophageal reflux	6491	STIL	ORPHA:93926
HP:0002020	Gastroesophageal reflux	6491	STIL	ORPHA:93924
HP:0002020	Gastroesophageal reflux	6491	STIL	ORPHA:93925
HP:0002020	Gastroesophageal reflux	6491	STIL	ORPHA:220386
HP:0002020	Gastroesophageal reflux	2619	GAS1	ORPHA:93926
HP:0002020	Gastroesophageal reflux	2619	GAS1	ORPHA:93924
HP:0002020	Gastroesophageal reflux	2619	GAS1	ORPHA:93925
HP:0002020	Gastroesophageal reflux	2619	GAS1	ORPHA:220386
HP:0002020	Gastroesophageal reflux	84976	DISP1	ORPHA:93926
HP:0002020	Gastroesophageal reflux	84976	DISP1	ORPHA:93924
HP:0002020	Gastroesophageal reflux	84976	DISP1	ORPHA:93925
HP:0002020	Gastroesophageal reflux	84976	DISP1	ORPHA:220386
HP:0002020	Gastroesophageal reflux	2736	GLI2	ORPHA:93926
HP:0002020	Gastroesophageal reflux	2736	GLI2	ORPHA:93924
HP:0002020	Gastroesophageal reflux	2736	GLI2	ORPHA:93925
HP:0002020	Gastroesophageal reflux	2736	GLI2	ORPHA:220386
HP:0002020	Gastroesophageal reflux	8928	FOXH1	ORPHA:93926
HP:0002020	Gastroesophageal reflux	8928	FOXH1	ORPHA:93924
HP:0002020	Gastroesophageal reflux	8928	FOXH1	ORPHA:93925
HP:0002020	Gastroesophageal reflux	8928	FOXH1	ORPHA:220386
HP:0002020	Gastroesophageal reflux	6997	CRIPTO	ORPHA:93926
HP:0002020	Gastroesophageal reflux	6997	CRIPTO	ORPHA:93924
HP:0002020	Gastroesophageal reflux	6997	CRIPTO	ORPHA:93925
HP:0002020	Gastroesophageal reflux	6997	CRIPTO	ORPHA:220386
HP:0002020	Gastroesophageal reflux	5727	PTCH1	ORPHA:93926
HP:0002020	Gastroesophageal reflux	5727	PTCH1	ORPHA:93924
HP:0002020	Gastroesophageal reflux	5727	PTCH1	ORPHA:93925
HP:0002020	Gastroesophageal reflux	5727	PTCH1	ORPHA:220386
HP:0002020	Gastroesophageal reflux	50937	CDON	ORPHA:93926
HP:0002020	Gastroesophageal reflux	50937	CDON	ORPHA:93924
HP:0002020	Gastroesophageal reflux	50937	CDON	ORPHA:93925
HP:0002020	Gastroesophageal reflux	50937	CDON	ORPHA:220386
HP:0002020	Gastroesophageal reflux	2260	FGFR1	ORPHA:93924
HP:0002020	Gastroesophageal reflux	2260	FGFR1	ORPHA:220386
HP:0002020	Gastroesophageal reflux	23007	PLCH1	ORPHA:93925
HP:0002020	Gastroesophageal reflux	10735	STAG2	ORPHA:93925
HP:0002020	Gastroesophageal reflux	10735	STAG2	OMIM:301043
HP:0002020	Gastroesophageal reflux	10735	STAG2	ORPHA:220386
HP:0002020	Gastroesophageal reflux	3737	KCNA2	ORPHA:442835
HP:0002020	Gastroesophageal reflux	1759	DNM1	ORPHA:442835
HP:0002020	Gastroesophageal reflux	8120	AP3B2	ORPHA:442835
HP:0002020	Gastroesophageal reflux	523	ATP6V1A	ORPHA:442835
HP:0002020	Gastroesophageal reflux	10991	SLC38A3	ORPHA:442835
HP:0002020	Gastroesophageal reflux	10991	SLC38A3	OMIM:619881
HP:0002020	Gastroesophageal reflux	51343	FZR1	ORPHA:442835
HP:0002020	Gastroesophageal reflux	3747	KCNC2	ORPHA:442835
HP:0002020	Gastroesophageal reflux	1917	EEF1A2	ORPHA:442835
HP:0002020	Gastroesophageal reflux	23219	FBXO28	ORPHA:442835
HP:0002020	Gastroesophageal reflux	23219	FBXO28	OMIM:619777
HP:0002020	Gastroesophageal reflux	2561	GABRB2	ORPHA:442835
HP:0002020	Gastroesophageal reflux	8831	SYNGAP1	ORPHA:442835
HP:0002020	Gastroesophageal reflux	2558	GABRA5	ORPHA:442835
HP:0002020	Gastroesophageal reflux	2906	GRIN2D	ORPHA:442835
HP:0002020	Gastroesophageal reflux	116150	NUS1	ORPHA:442835
HP:0002020	Gastroesophageal reflux	1213	CLTC	ORPHA:442835
HP:0002020	Gastroesophageal reflux	1213	CLTC	OMIM:617854
HP:0002020	Gastroesophageal reflux	51741	WWOX	ORPHA:442835
HP:0002020	Gastroesophageal reflux	23334	SZT2	ORPHA:442835
HP:0002020	Gastroesophageal reflux	348980	HCN1	ORPHA:442835
HP:0002020	Gastroesophageal reflux	25977	NECAP1	ORPHA:442835
HP:0002020	Gastroesophageal reflux	23241	PACS2	ORPHA:442835
HP:0002020	Gastroesophageal reflux	16	AARS1	ORPHA:442835
HP:0002020	Gastroesophageal reflux	6334	SCN8A	ORPHA:442835
HP:0002020	Gastroesophageal reflux	9568	GABBR2	ORPHA:442835
HP:0002020	Gastroesophageal reflux	2555	GABRA2	ORPHA:442835
HP:0002020	Gastroesophageal reflux	55152	DALRD3	ORPHA:442835
HP:0002020	Gastroesophageal reflux	26999	CYFIP2	ORPHA:442835
HP:0002020	Gastroesophageal reflux	4915	NTRK2	ORPHA:442835
HP:0002020	Gastroesophageal reflux	25973	PARS2	ORPHA:442835
HP:0002020	Gastroesophageal reflux	23097	CDK19	ORPHA:442835
HP:0002020	Gastroesophageal reflux	2257	FGF12	ORPHA:442835
HP:0002020	Gastroesophageal reflux	5530	PPP3CA	ORPHA:442835
HP:0002020	Gastroesophageal reflux	478	ATP1A3	ORPHA:442835
HP:0002020	Gastroesophageal reflux	22906	TRAK1	ORPHA:442835
HP:0002020	Gastroesophageal reflux	2566	GABRG2	ORPHA:442835
HP:0002020	Gastroesophageal reflux	7532	YWHAG	ORPHA:442835
HP:0002020	Gastroesophageal reflux	79876	UBA5	ORPHA:442835
HP:0002020	Gastroesophageal reflux	79876	UBA5	OMIM:617132
HP:0002020	Gastroesophageal reflux	6328	SCN3A	ORPHA:442835
HP:0002020	Gastroesophageal reflux	781	CACNA2D1	ORPHA:442835
HP:0002020	Gastroesophageal reflux	10659	CELF2	ORPHA:442835
HP:0002020	Gastroesophageal reflux	774	CACNA1B	ORPHA:442835
HP:0002020	Gastroesophageal reflux	774	CACNA1B	OMIM:618497
HP:0002020	Gastroesophageal reflux	51412	ACTL6B	ORPHA:442835
HP:0002020	Gastroesophageal reflux	2290	FOXG1	ORPHA:442835
HP:0002020	Gastroesophageal reflux	2290	FOXG1	ORPHA:261144
HP:0002020	Gastroesophageal reflux	2290	FOXG1	OMIM:613454
HP:0002020	Gastroesophageal reflux	6506	SLC1A2	ORPHA:442835
HP:0002020	Gastroesophageal reflux	8867	SYNJ1	ORPHA:442835
HP:0002020	Gastroesophageal reflux	477	ATP1A2	ORPHA:442835
HP:0002020	Gastroesophageal reflux	3745	KCNB1	ORPHA:442835
HP:0002020	Gastroesophageal reflux	284111	SLC13A5	ORPHA:442835
HP:0002020	Gastroesophageal reflux	22866	CNKSR2	ORPHA:442835
HP:0002020	Gastroesophageal reflux	773	CACNA1A	ORPHA:442835
HP:0002020	Gastroesophageal reflux	6323	SCN1A	ORPHA:442835
HP:0002020	Gastroesophageal reflux	79947	DHDDS	ORPHA:442835
HP:0002020	Gastroesophageal reflux	26834	RNU4-2	OMIM:620851
HP:0002020	Gastroesophageal reflux	3981	LIG4	ORPHA:235
HP:0002020	Gastroesophageal reflux	54888	NSUN2	ORPHA:235
HP:0002020	Gastroesophageal reflux	253738	EBF3	OMIM:617330
HP:0002020	Gastroesophageal reflux	2261	FGFR3	OMIM:616482
HP:0002020	Gastroesophageal reflux	9895	TECPR2	OMIM:615031
HP:0002020	Gastroesophageal reflux	8493	PPM1D	OMIM:617450
HP:0002020	Gastroesophageal reflux	23126	POGZ	OMIM:616364
HP:0002020	Gastroesophageal reflux	23126	POGZ	ORPHA:468678
HP:0002020	Gastroesophageal reflux	27125	AFF4	OMIM:616368
HP:0002020	Gastroesophageal reflux	27125	AFF4	ORPHA:444077
HP:0002020	Gastroesophageal reflux	1660	DHX9	OMIM:620988
HP:0002020	Gastroesophageal reflux	51692	CPSF3	OMIM:619876
HP:0002020	Gastroesophageal reflux	8021	NUP214	OMIM:618426
HP:0002020	Gastroesophageal reflux	5590	PRKCZ	ORPHA:1606
HP:0002020	Gastroesophageal reflux	2563	GABRD	ORPHA:1606
HP:0002020	Gastroesophageal reflux	23013	SPEN	ORPHA:1606
HP:0002020	Gastroesophageal reflux	23013	SPEN	OMIM:619312
HP:0002020	Gastroesophageal reflux	8510	MMP23B	ORPHA:1606
HP:0002020	Gastroesophageal reflux	7798	LUZP1	ORPHA:1606
HP:0002020	Gastroesophageal reflux	6497	SKI	ORPHA:1606
HP:0002020	Gastroesophageal reflux	6497	SKI	ORPHA:2462
HP:0002020	Gastroesophageal reflux	6497	SKI	OMIM:182212
HP:0002020	Gastroesophageal reflux	10630	PDPN	ORPHA:1606
HP:0002020	Gastroesophageal reflux	3339	HSPG2	ORPHA:1606
HP:0002020	Gastroesophageal reflux	10277	UBE4B	ORPHA:1606
HP:0002020	Gastroesophageal reflux	8514	KCNAB2	ORPHA:1606
HP:0002020	Gastroesophageal reflux	473	RERE	ORPHA:1606
HP:0002020	Gastroesophageal reflux	473	RERE	ORPHA:494344
HP:0002020	Gastroesophageal reflux	473	RERE	OMIM:616975
HP:0002020	Gastroesophageal reflux	63976	PRDM16	ORPHA:1606
HP:0002020	Gastroesophageal reflux	54897	CASZ1	ORPHA:1606
HP:0002020	Gastroesophageal reflux	6134	RPL10	ORPHA:459070
HP:0002020	Gastroesophageal reflux	6134	RPL10	OMIM:300998
HP:0002020	Gastroesophageal reflux	6134	RPL10	ORPHA:435938
HP:0002020	Gastroesophageal reflux	415	ARSL	ORPHA:79345
HP:0002020	Gastroesophageal reflux	1859	DYRK1A	ORPHA:464311
HP:0002020	Gastroesophageal reflux	1859	DYRK1A	ORPHA:268261
HP:0002020	Gastroesophageal reflux	93986	FOXP2	ORPHA:251061
HP:0002020	Gastroesophageal reflux	79796	ALG9	ORPHA:79328
HP:0002020	Gastroesophageal reflux	4247	MGAT2	ORPHA:79329
HP:0002020	Gastroesophageal reflux	6804	STX1A	ORPHA:586
HP:0002020	Gastroesophageal reflux	6804	STX1A	ORPHA:904
HP:0002020	Gastroesophageal reflux	2947	GSTM3	ORPHA:586
HP:0002020	Gastroesophageal reflux	7040	TGFB1	ORPHA:586
HP:0002020	Gastroesophageal reflux	2729	GCLC	ORPHA:586
HP:0002020	Gastroesophageal reflux	1084	CEACAM3	ORPHA:586
HP:0002020	Gastroesophageal reflux	6556	SLC11A1	ORPHA:586
HP:0002020	Gastroesophageal reflux	51164	DCTN4	ORPHA:586
HP:0002020	Gastroesophageal reflux	3783	KCNN4	ORPHA:586
HP:0002020	Gastroesophageal reflux	4282	MIF	ORPHA:586
HP:0002020	Gastroesophageal reflux	1909	EDNRA	ORPHA:586
HP:0002020	Gastroesophageal reflux	6550	SLC9A3	ORPHA:586
HP:0002020	Gastroesophageal reflux	3162	HMOX1	ORPHA:586
HP:0002020	Gastroesophageal reflux	115019	SLC26A9	ORPHA:586
HP:0002020	Gastroesophageal reflux	3077	HFE	ORPHA:586
HP:0002020	Gastroesophageal reflux	11254	SLC6A14	ORPHA:586
HP:0002020	Gastroesophageal reflux	5265	SERPINA1	ORPHA:586
HP:0002020	Gastroesophageal reflux	1080	CFTR	ORPHA:586
HP:0002020	Gastroesophageal reflux	22802	CLCA4	ORPHA:586
HP:0002020	Gastroesophageal reflux	4680	CEACAM6	ORPHA:586
HP:0002020	Gastroesophageal reflux	3785	KCNQ2	ORPHA:1949
HP:0002020	Gastroesophageal reflux	3786	KCNQ3	ORPHA:1949
HP:0002020	Gastroesophageal reflux	11231	SEC63	ORPHA:2924
HP:0002020	Gastroesophageal reflux	5589	PRKCSH	ORPHA:2924
HP:0002020	Gastroesophageal reflux	4041	LRP5	ORPHA:2924
HP:0002020	Gastroesophageal reflux	2542	SLC37A4	OMIM:619525
HP:0002020	Gastroesophageal reflux	9772	TMEM94	OMIM:618316
HP:0002020	Gastroesophageal reflux	51341	ZBTB7A	OMIM:619769
HP:0002020	Gastroesophageal reflux	9338	TCEAL1	OMIM:301094
HP:0002020	Gastroesophageal reflux	6925	TCF4	OMIM:610954
HP:0002020	Gastroesophageal reflux	6925	TCF4	ORPHA:2896
HP:0002020	Gastroesophageal reflux	10743	RAI1	ORPHA:1713
HP:0002020	Gastroesophageal reflux	10743	RAI1	ORPHA:819
HP:0002020	Gastroesophageal reflux	10743	RAI1	OMIM:182290
HP:0002020	Gastroesophageal reflux	23314	SATB2	ORPHA:576283
HP:0002020	Gastroesophageal reflux	23556	PIGN	OMIM:614080
HP:0002020	Gastroesophageal reflux	23556	PIGN	ORPHA:2059
HP:0002020	Gastroesophageal reflux	23556	PIGN	ORPHA:280633
HP:0002020	Gastroesophageal reflux	23162	MAPK8IP3	OMIM:618443
HP:0002020	Gastroesophageal reflux	54941	RNF125	OMIM:616260
HP:0002020	Gastroesophageal reflux	197258	FCSK	OMIM:618324
HP:0002020	Gastroesophageal reflux	79989	IFT56	OMIM:619534
HP:0002020	Gastroesophageal reflux	85365	ALG2	OMIM:607906
HP:0002020	Gastroesophageal reflux	259232	NALCN	OMIM:616266
HP:0002020	Gastroesophageal reflux	259232	NALCN	ORPHA:562528
HP:0002020	Gastroesophageal reflux	259232	NALCN	OMIM:615419
HP:0002020	Gastroesophageal reflux	25836	NIPBL	OMIM:122470
HP:0002020	Gastroesophageal reflux	25836	NIPBL	ORPHA:199
HP:0002020	Gastroesophageal reflux	51322	WAC	ORPHA:466950
HP:0002020	Gastroesophageal reflux	79087	ALG12	ORPHA:79324
HP:0002020	Gastroesophageal reflux	2200	FBN1	OMIM:184900
HP:0002020	Gastroesophageal reflux	2200	FBN1	ORPHA:2462
HP:0002020	Gastroesophageal reflux	3756	KCNH1	OMIM:611816
HP:0002020	Gastroesophageal reflux	3756	KCNH1	OMIM:135500
HP:0002020	Gastroesophageal reflux	641	BLM	ORPHA:125
HP:0002020	Gastroesophageal reflux	25970	SH2B1	ORPHA:261197
HP:0002020	Gastroesophageal reflux	1387	CREBBP	OMIM:618332
HP:0002020	Gastroesophageal reflux	1387	CREBBP	ORPHA:353281
HP:0002020	Gastroesophageal reflux	1387	CREBBP	OMIM:180849
HP:0002020	Gastroesophageal reflux	1387	CREBBP	ORPHA:353277
HP:0002020	Gastroesophageal reflux	8621	CDK13	OMIM:617360
HP:0002020	Gastroesophageal reflux	171546	SPTSSA	OMIM:620416
HP:0002020	Gastroesophageal reflux	171546	SPTSSA	OMIM:620417
HP:0002020	Gastroesophageal reflux	58497	PRUNE1	ORPHA:544469
HP:0002020	Gastroesophageal reflux	1642	DDB1	OMIM:619426
HP:0002020	Gastroesophageal reflux	6857	SYT1	OMIM:618218
HP:0002020	Gastroesophageal reflux	6857	SYT1	ORPHA:522077
HP:0002020	Gastroesophageal reflux	6778	STAT6	OMIM:620532
HP:0002020	Gastroesophageal reflux	9900	SV2A	OMIM:620772
HP:0002020	Gastroesophageal reflux	389827	MYMK	OMIM:254940
HP:0002020	Gastroesophageal reflux	2902	GRIN1	ORPHA:208447
HP:0002020	Gastroesophageal reflux	2902	GRIN1	OMIM:619814
HP:0002020	Gastroesophageal reflux	291	SLC25A4	ORPHA:254892
HP:0002020	Gastroesophageal reflux	56652	TWNK	ORPHA:254892
HP:0002020	Gastroesophageal reflux	11232	POLG2	ORPHA:254892
HP:0002020	Gastroesophageal reflux	11232	POLG2	OMIM:610131
HP:0002020	Gastroesophageal reflux	9361	LONP1	OMIM:600373
HP:0002020	Gastroesophageal reflux	9361	LONP1	ORPHA:79243
HP:0002020	Gastroesophageal reflux	6477	SIAH1	OMIM:619314
HP:0002020	Gastroesophageal reflux	4000	LMNA	OMIM:619793
HP:0002020	Gastroesophageal reflux	6885	MAP3K7	OMIM:617137
HP:0002020	Gastroesophageal reflux	6885	MAP3K7	OMIM:157800
HP:0002020	Gastroesophageal reflux	1235	CCR6	ORPHA:220402
HP:0002020	Gastroesophageal reflux	1235	CCR6	ORPHA:220393
HP:0002020	Gastroesophageal reflux	79932	KIAA0319L	ORPHA:220402
HP:0002020	Gastroesophageal reflux	1490	CCN2	ORPHA:220402
HP:0002020	Gastroesophageal reflux	1490	CCN2	ORPHA:220393
HP:0002020	Gastroesophageal reflux	3663	IRF5	ORPHA:220402
HP:0002020	Gastroesophageal reflux	3663	IRF5	ORPHA:220393
HP:0002020	Gastroesophageal reflux	857	CAV1	ORPHA:220402
HP:0002020	Gastroesophageal reflux	857	CAV1	ORPHA:220393
HP:0002020	Gastroesophageal reflux	3123	HLA-DRB1	ORPHA:220402
HP:0002020	Gastroesophageal reflux	3123	HLA-DRB1	ORPHA:220393
HP:0002020	Gastroesophageal reflux	55869	HDAC8	OMIM:300882
HP:0002020	Gastroesophageal reflux	55869	HDAC8	ORPHA:199
HP:0002020	Gastroesophageal reflux	6299	SALL1	OMIM:107480
HP:0002020	Gastroesophageal reflux	64801	ARV1	OMIM:617020
HP:0002020	Gastroesophageal reflux	29998	BICRA	OMIM:619325
HP:0002020	Gastroesophageal reflux	63895	PIEZO2	OMIM:617146
HP:0002020	Gastroesophageal reflux	2033	EP300	ORPHA:353284
HP:0002020	Gastroesophageal reflux	2033	EP300	OMIM:180849
HP:0002020	Gastroesophageal reflux	3930	LBR	ORPHA:779
HP:0002020	Gastroesophageal reflux	443	ASPA	ORPHA:314911
HP:0002020	Gastroesophageal reflux	4952	OCRL	ORPHA:534
HP:0002020	Gastroesophageal reflux	9126	SMC3	OMIM:610759
HP:0002020	Gastroesophageal reflux	9126	SMC3	ORPHA:199
HP:0002020	Gastroesophageal reflux	55777	MBD5	OMIM:156200
HP:0002020	Gastroesophageal reflux	112939	NACC1	OMIM:617393
HP:0002020	Gastroesophageal reflux	4998	ORC1	OMIM:224690
HP:0002020	Gastroesophageal reflux	54496	PRMT7	OMIM:617157
HP:0002020	Gastroesophageal reflux	54551	MAGEL2	ORPHA:398069
HP:0002020	Gastroesophageal reflux	54551	MAGEL2	OMIM:615547
HP:0002020	Gastroesophageal reflux	5831	PYCR1	OMIM:612940
HP:0002020	Gastroesophageal reflux	23476	BRD4	OMIM:620568
HP:0002020	Gastroesophageal reflux	23476	BRD4	ORPHA:199
HP:0002020	Gastroesophageal reflux	201163	FLCN	OMIM:610883
HP:0002020	Gastroesophageal reflux	51079	NDUFA13	OMIM:618249
HP:0002020	Gastroesophageal reflux	9719	ADAMTSL2	ORPHA:1901
HP:0002020	Gastroesophageal reflux	9509	ADAMTS2	ORPHA:1901
HP:0002020	Gastroesophageal reflux	1312	COMT	ORPHA:567
HP:0002020	Gastroesophageal reflux	221037	JMJD1C	ORPHA:567
HP:0002020	Gastroesophageal reflux	2812	GP1BB	ORPHA:567
HP:0002020	Gastroesophageal reflux	6239	RREB1	ORPHA:567
HP:0002020	Gastroesophageal reflux	6899	TBX1	ORPHA:567
HP:0002020	Gastroesophageal reflux	6899	TBX1	OMIM:188400
HP:0002020	Gastroesophageal reflux	7290	HIRA	ORPHA:567
HP:0002020	Gastroesophageal reflux	9632	SEC24C	ORPHA:567
HP:0002020	Gastroesophageal reflux	7353	UFD1	ORPHA:567
HP:0002020	Gastroesophageal reflux	421	ARVCF	ORPHA:567
HP:0002020	Gastroesophageal reflux	2778	GNAS	ORPHA:562
HP:0002020	Gastroesophageal reflux	22827	PUF60	ORPHA:508488
HP:0002020	Gastroesophageal reflux	3265	HRAS	ORPHA:3071
HP:0002020	Gastroesophageal reflux	7703	PCGF2	OMIM:618371
HP:0002020	Gastroesophageal reflux	9496	TBX4	ORPHA:261279
HP:0002020	Gastroesophageal reflux	2743	GLRB	ORPHA:3197
HP:0002020	Gastroesophageal reflux	2743	GLRB	OMIM:614619
HP:0002020	Gastroesophageal reflux	2741	GLRA1	ORPHA:3197
HP:0002020	Gastroesophageal reflux	10243	GPHN	ORPHA:3197
HP:0002020	Gastroesophageal reflux	84896	ATAD1	ORPHA:3197
HP:0002020	Gastroesophageal reflux	9152	SLC6A5	ORPHA:3197
HP:0002020	Gastroesophageal reflux	9152	SLC6A5	OMIM:614618
HP:0002020	Gastroesophageal reflux	1760	DMPK	ORPHA:589821
HP:0002020	Gastroesophageal reflux	372	ARCN1	OMIM:617164
HP:0002020	Gastroesophageal reflux	8802	SUCLG1	ORPHA:17
HP:0002020	Gastroesophageal reflux	1822	ATN1	OMIM:618494
HP:0002020	Gastroesophageal reflux	3188	HNRNPH2	OMIM:300986
HP:0002020	Gastroesophageal reflux	5000	ORC4	OMIM:613800
HP:0002020	Gastroesophageal reflux	6304	SATB1	OMIM:619229
HP:0002020	Gastroesophageal reflux	23594	ORC6	OMIM:613803
HP:0002020	Gastroesophageal reflux	990	CDC6	OMIM:613805
HP:0002020	Gastroesophageal reflux	2316	FLNA	ORPHA:75497
HP:0002020	Gastroesophageal reflux	2316	FLNA	ORPHA:98892
HP:0002020	Gastroesophageal reflux	4629	MYH11	OMIM:619350
HP:0002020	Gastroesophageal reflux	37	ACADVL	OMIM:201475
HP:0002020	Gastroesophageal reflux	54809	SAMD9	OMIM:617053
HP:0002020	Gastroesophageal reflux	57003	CCDC47	OMIM:618268
HP:0002020	Gastroesophageal reflux	10681	GNB5	OMIM:617173
HP:0002020	Gastroesophageal reflux	10681	GNB5	OMIM:617182
HP:0002020	Gastroesophageal reflux	10681	GNB5	ORPHA:542306
HP:0002020	Gastroesophageal reflux	10526	IPO8	OMIM:619472
HP:0002020	Gastroesophageal reflux	64840	PORCN	ORPHA:2092
HP:0002020	Gastroesophageal reflux	10847	SRCAP	OMIM:619595
HP:0002020	Gastroesophageal reflux	10847	SRCAP	ORPHA:2044
HP:0002020	Gastroesophageal reflux	51604	PIGT	ORPHA:369837
HP:0002020	Gastroesophageal reflux	246329	STAC3	ORPHA:168572
HP:0002020	Gastroesophageal reflux	526	ATP6V1B2	ORPHA:79500
HP:0002020	Gastroesophageal reflux	57465	TBC1D24	ORPHA:79500
HP:0002020	Gastroesophageal reflux	11198	SUPT16H	OMIM:619480
HP:0002020	Gastroesophageal reflux	2887	GRB10	ORPHA:96182
HP:0002020	Gastroesophageal reflux	283446	MYO1H	OMIM:619482
HP:0002020	Gastroesophageal reflux	2077	ERF	OMIM:617180
HP:0002020	Gastroesophageal reflux	6872	TAF1	OMIM:300966
HP:0002020	Gastroesophageal reflux	374879	ZNF699	OMIM:619488
HP:0002020	Gastroesophageal reflux	4841	NONO	OMIM:300967
HP:0002020	Gastroesophageal reflux	4841	NONO	ORPHA:466791
HP:0002020	Gastroesophageal reflux	5058	PAK1	OMIM:618158
HP:0002020	Gastroesophageal reflux	57038	RARS2	OMIM:611523
HP:0002020	Gastroesophageal reflux	8911	CACNA1I	OMIM:620114
HP:0002020	Gastroesophageal reflux	10551	AGR2	OMIM:620233
HP:0002020	Gastroesophageal reflux	4221	MEN1	ORPHA:652
HP:0002020	Gastroesophageal reflux	1027	CDKN1B	ORPHA:652
HP:0002020	Gastroesophageal reflux	1026	CDKN1A	ORPHA:652
HP:0002020	Gastroesophageal reflux	1030	CDKN2B	ORPHA:652
HP:0002020	Gastroesophageal reflux	1031	CDKN2C	ORPHA:652
HP:0002020	Gastroesophageal reflux	80267	EDEM3	OMIM:619493
HP:0002020	Gastroesophageal reflux	1650	DDOST	ORPHA:300536
HP:0002020	Gastroesophageal reflux	1650	DDOST	OMIM:614507
HP:0002020	Gastroesophageal reflux	6748	SSR4	ORPHA:370927
HP:0002020	Gastroesophageal reflux	4508	MT-ATP6	ORPHA:225154
HP:0002020	Gastroesophageal reflux	23636	NUP62	ORPHA:225154
HP:0002020	Gastroesophageal reflux	53371	NUP54	ORPHA:225154
HP:0002020	Gastroesophageal reflux	103	ADAR	ORPHA:225154
HP:0002020	Gastroesophageal reflux	4081	MAB21L1	ORPHA:495875
HP:0002020	Gastroesophageal reflux	10479	SLC9A6	ORPHA:85278
HP:0002020	Gastroesophageal reflux	1984	EIF5A	OMIM:619376
HP:0002020	Gastroesophageal reflux	79651	RHBDF2	ORPHA:2198
HP:0002020	Gastroesophageal reflux	2581	GALC	ORPHA:206436
HP:0002020	Gastroesophageal reflux	5660	PSAP	ORPHA:206436
HP:0002020	Gastroesophageal reflux	10079	ATP9A	OMIM:620242
HP:0002020	Gastroesophageal reflux	9897	WASHC5	ORPHA:7
HP:0002020	Gastroesophageal reflux	28952	CCDC22	ORPHA:7
HP:0002020	Gastroesophageal reflux	57020	VPS35L	ORPHA:7
HP:0002020	Gastroesophageal reflux	56896	DPYSL5	ORPHA:7
HP:0002020	Gastroesophageal reflux	23040	MYT1L	ORPHA:647799
HP:0002020	Gastroesophageal reflux	2629	GBA1	OMIM:230900
HP:0002020	Gastroesophageal reflux	2629	GBA1	ORPHA:85212
HP:0002020	Gastroesophageal reflux	27161	AGO2	OMIM:619149
HP:0002020	Gastroesophageal reflux	3708	ITPR1	OMIM:206700
HP:0002020	Gastroesophageal reflux	55294	FBXW7	OMIM:620012
HP:0002020	Gastroesophageal reflux	9325	TRIP4	ORPHA:486815
HP:0002020	Gastroesophageal reflux	283450	HECTD4	OMIM:620250
HP:0002020	Gastroesophageal reflux	8085	KMT2D	OMIM:147920
HP:0002020	Gastroesophageal reflux	8085	KMT2D	OMIM:620186
HP:0002020	Gastroesophageal reflux	8085	KMT2D	ORPHA:2322
HP:0002020	Gastroesophageal reflux	7403	KDM6A	OMIM:147920
HP:0002020	Gastroesophageal reflux	7403	KDM6A	ORPHA:2322
HP:0002020	Gastroesophageal reflux	8243	SMC1A	OMIM:300590
HP:0002020	Gastroesophageal reflux	8243	SMC1A	OMIM:301044
HP:0002020	Gastroesophageal reflux	8243	SMC1A	ORPHA:199
HP:0002020	Gastroesophageal reflux	8243	SMC1A	ORPHA:220386
HP:0002020	Gastroesophageal reflux	8506	CNTNAP1	OMIM:618186
HP:0002020	Gastroesophageal reflux	55503	TRPV6	OMIM:618188
HP:0002020	Gastroesophageal reflux	5885	RAD21	OMIM:614701
HP:0002020	Gastroesophageal reflux	5885	RAD21	ORPHA:199
HP:0002020	Gastroesophageal reflux	652	BMP4	ORPHA:828
HP:0002020	Gastroesophageal reflux	7355	SLC35A2	ORPHA:356961
HP:0002020	Gastroesophageal reflux	7355	SLC35A2	OMIM:300896
HP:0002020	Gastroesophageal reflux	673	BRAF	OMIM:115150
HP:0002020	Gastroesophageal reflux	775	CACNA1C	OMIM:620029
HP:0002020	Gastroesophageal reflux	10274	STAG1	ORPHA:502434
HP:0002020	Gastroesophageal reflux	10274	STAG1	OMIM:617635
HP:0002020	Gastroesophageal reflux	64324	NSD1	ORPHA:821
HP:0002020	Gastroesophageal reflux	64324	NSD1	OMIM:117550
HP:0002020	Gastroesophageal reflux	10297	APC2	ORPHA:821
HP:0002020	Gastroesophageal reflux	5447	POR	ORPHA:95699
HP:0002020	Gastroesophageal reflux	4784	NFIX	ORPHA:447980
HP:0002020	Gastroesophageal reflux	6531	SLC6A3	ORPHA:238455
HP:0002020	Gastroesophageal reflux	6531	SLC6A3	OMIM:613135
HP:0002020	Gastroesophageal reflux	4281	MID1	OMIM:300000
HP:0002020	Gastroesophageal reflux	80232	WDR26	ORPHA:513456
HP:0002020	Gastroesophageal reflux	80232	WDR26	OMIM:617616
HP:0002020	Gastroesophageal reflux	51112	TRAPPC12	ORPHA:500144
HP:0002020	Gastroesophageal reflux	51506	UFC1	OMIM:618076
HP:0002020	Gastroesophageal reflux	2314	FLII	ORPHA:819
HP:0002020	Gastroesophageal reflux	23096	IQSEC2	ORPHA:819
HP:0002020	Gastroesophageal reflux	10522	DEAF1	ORPHA:819
HP:0002020	Gastroesophageal reflux	1717	DHCR7	ORPHA:818
HP:0002020	Gastroesophageal reflux	1717	DHCR7	OMIM:270400
HP:0002020	Gastroesophageal reflux	9915	ARNT2	OMIM:615926
HP:0002020	Gastroesophageal reflux	10978	CLP1	OMIM:615803
HP:0002020	Gastroesophageal reflux	5979	RET	ORPHA:99803
HP:0002020	Gastroesophageal reflux	429	ASCL1	ORPHA:99803
HP:0002020	Gastroesophageal reflux	8929	PHOX2B	ORPHA:99803
HP:0002020	Gastroesophageal reflux	3119	HLA-DQB1	ORPHA:930
HP:0002020	Gastroesophageal reflux	9244	CRLF1	ORPHA:930
HP:0002020	Gastroesophageal reflux	3117	HLA-DQA1	ORPHA:930
HP:0002020	Gastroesophageal reflux	4842	NOS1	ORPHA:930
HP:0002020	Gastroesophageal reflux	1353	COX11	OMIM:620275
HP:0002020	Gastroesophageal reflux	4868	NPHS1	OMIM:256300
HP:0002020	Gastroesophageal reflux	7298	TYMS	OMIM:620040
HP:0002020	Gastroesophageal reflux	6595	SMARCA2	OMIM:619293
HP:0002020	Gastroesophageal reflux	3899	AFF3	OMIM:619297
HP:0002020	Gastroesophageal reflux	1136	CHRNA3	OMIM:191800
HP:0002020	Gastroesophageal reflux	80204	FBXO11	OMIM:618089
HP:0002020	Gastroesophageal reflux	5119	CHMP1A	OMIM:614961
HP:0002020	Gastroesophageal reflux	6440	SFTPC	ORPHA:2032
HP:0002020	Gastroesophageal reflux	729238	SFTPA2	ORPHA:2032
HP:0002020	Gastroesophageal reflux	79991	STN1	ORPHA:2032
HP:0002020	Gastroesophageal reflux	653509	SFTPA1	ORPHA:2032
HP:0002020	Gastroesophageal reflux	21	ABCA3	ORPHA:2032
HP:0002020	Gastroesophageal reflux	1832	DSP	ORPHA:2032
HP:0002020	Gastroesophageal reflux	727897	MUC5B	ORPHA:2032
HP:0002020	Gastroesophageal reflux	10144	FAM13A	ORPHA:2032
HP:0002020	Gastroesophageal reflux	23250	ATP11A	ORPHA:2032
HP:0002020	Gastroesophageal reflux	91039	DPP9	ORPHA:2032
HP:0002020	Gastroesophageal reflux	51750	RTEL1	ORPHA:2032
HP:0002020	Gastroesophageal reflux	7012	TERC	ORPHA:2032
HP:0002020	Gastroesophageal reflux	5073	PARN	ORPHA:2032
HP:0002020	Gastroesophageal reflux	7015	TERT	ORPHA:2032
HP:0002020	Gastroesophageal reflux	7015	TERT	OMIM:614742
HP:0002020	Gastroesophageal reflux	546	ATRX	ORPHA:847
HP:0002020	Gastroesophageal reflux	546	ATRX	OMIM:309580
HP:0002020	Gastroesophageal reflux	546	ATRX	OMIM:301040
HP:0002020	Gastroesophageal reflux	8546	AP3B1	OMIM:608233
HP:0002020	Gastroesophageal reflux	26523	AGO1	OMIM:620292
HP:0002020	Gastroesophageal reflux	4212	MEIS2	OMIM:600987
HP:0002020	Gastroesophageal reflux	7156	TOP3A	OMIM:618097
HP:0002020	Gastroesophageal reflux	132158	GLYCTK	OMIM:220120
HP:0002020	Gastroesophageal reflux	79813	EHMT1	OMIM:610253
HP:0002020	Gastroesophageal reflux	79813	EHMT1	ORPHA:261652
HP:0002020	Gastroesophageal reflux	25942	SIN3A	OMIM:613406
HP:0002020	Gastroesophageal reflux	7468	NSD2	OMIM:194190
HP:0002020	Gastroesophageal reflux	10815	CPLX1	OMIM:194190
HP:0002020	Gastroesophageal reflux	1487	CTBP1	OMIM:194190
HP:0002020	Gastroesophageal reflux	53834	FGFRL1	OMIM:194190
HP:0002020	Gastroesophageal reflux	3954	LETM1	OMIM:194190
HP:0002020	Gastroesophageal reflux	5826	ABCD4	OMIM:614857
HP:0002020	Gastroesophageal reflux	10558	SPTLC1	ORPHA:36386
HP:0002020	Gastroesophageal reflux	25923	ATL3	ORPHA:36386
HP:0002020	Gastroesophageal reflux	9517	SPTLC2	ORPHA:36386
HP:0002020	Gastroesophageal reflux	51062	ATL1	ORPHA:36386
HP:0002020	Gastroesophageal reflux	375	ARF1	ORPHA:98892
HP:0002020	Gastroesophageal reflux	4131	MAP1B	ORPHA:98892
HP:0002020	Gastroesophageal reflux	23327	NEDD4L	ORPHA:98892
HP:0002020	Gastroesophageal reflux	160418	TMTC3	ORPHA:98892
HP:0002020	Gastroesophageal reflux	10564	ARFGEF2	ORPHA:98892
HP:0002020	Gastroesophageal reflux	55780	ERMARD	ORPHA:98892
HP:0002020	Gastroesophageal reflux	7840	ALMS1	ORPHA:64
HP:0002020	Gastroesophageal reflux	4204	MECP2	OMIM:300673
HP:0002020	Gastroesophageal reflux	4204	MECP2	OMIM:312750
HP:0002020	Gastroesophageal reflux	4204	MECP2	OMIM:300260
HP:0002020	Gastroesophageal reflux	4204	MECP2	ORPHA:209370
HP:0002020	Gastroesophageal reflux	6792	CDKL5	OMIM:300672
HP:0002020	Gastroesophageal reflux	6792	CDKL5	ORPHA:505652
HP:0002020	Gastroesophageal reflux	56006	SMG9	OMIM:616920
HP:0002020	Gastroesophageal reflux	2332	FMR1	ORPHA:908
HP:0002020	Gastroesophageal reflux	2332	FMR1	ORPHA:449291
HP:0002020	Gastroesophageal reflux	7461	CLIP2	ORPHA:904
HP:0002020	Gastroesophageal reflux	84277	DNAJC30	ORPHA:904
HP:0002020	Gastroesophageal reflux	8468	FKBP6	ORPHA:904
HP:0002020	Gastroesophageal reflux	5982	RFC2	ORPHA:904
HP:0002020	Gastroesophageal reflux	2969	GTF2I	ORPHA:904
HP:0002020	Gastroesophageal reflux	3984	LIMK1	ORPHA:904
HP:0002020	Gastroesophageal reflux	9569	GTF2IRD1	ORPHA:904
HP:0002020	Gastroesophageal reflux	155382	VPS37D	ORPHA:904
HP:0002020	Gastroesophageal reflux	155368	METTL27	ORPHA:904
HP:0002020	Gastroesophageal reflux	114049	BUD23	ORPHA:904
HP:0002020	Gastroesophageal reflux	7458	EIF4H	ORPHA:904
HP:0002020	Gastroesophageal reflux	84163	GTF2IRD2	ORPHA:904
HP:0002020	Gastroesophageal reflux	26608	TBL2	ORPHA:904
HP:0002020	Gastroesophageal reflux	653361	NCF1	ORPHA:904
HP:0002020	Gastroesophageal reflux	135886	TMEM270	ORPHA:904
HP:0002020	Gastroesophageal reflux	9031	BAZ1B	ORPHA:904
HP:0002020	Gastroesophageal reflux	2006	ELN	ORPHA:904
HP:0002020	Gastroesophageal reflux	2006	ELN	OMIM:194050
HP:0002020	Gastroesophageal reflux	10056	FARSB	OMIM:613658
HP:0002020	Gastroesophageal reflux	81031	SLC2A10	ORPHA:3342
HP:0002020	Gastroesophageal reflux	9289	ADGRG1	ORPHA:98889
HP:0002020	Gastroesophageal reflux	5297	PI4KA	ORPHA:98889
HP:0002020	Gastroesophageal reflux	27286	SRPX2	ORPHA:98889
HP:0002020	Gastroesophageal reflux	23137	SMC5	OMIM:620185
HP:0002020	Gastroesophageal reflux	51611	DPH5	OMIM:620070
HP:0002020	Gastroesophageal reflux	6558	SLC12A2	OMIM:619080
HP:0002020	Gastroesophageal reflux	58508	KMT2C	ORPHA:261652
HP:0002020	Gastroesophageal reflux	6774	STAT3	OMIM:147060
HP:0002020	Gastroesophageal reflux	6774	STAT3	ORPHA:2314
HP:0002020	Gastroesophageal reflux	5594	MAPK1	OMIM:619087
HP:0002020	Gastroesophageal reflux	23522	KAT6B	ORPHA:85201
HP:0002020	Gastroesophageal reflux	23261	CAMTA1	OMIM:614756
HP:0002020	Gastroesophageal reflux	10472	ZBTB18	OMIM:612337
HP:0002020	Gastroesophageal reflux	51085	MLXIPL	OMIM:194050
HP:0002020	Gastroesophageal reflux	3187	HNRNPH1	OMIM:620083
HP:0002020	Gastroesophageal reflux	2535	FZD2	OMIM:164745
HP:0002020	Gastroesophageal reflux	50628	GEMIN4	OMIM:617913
HP:0002020	Gastroesophageal reflux	6509	SLC1A4	ORPHA:447997
HP:0002020	Gastroesophageal reflux	171023	ASXL1	OMIM:605039
HP:0002020	Gastroesophageal reflux	55023	PHIP	ORPHA:589905
HP:0002020	Gastroesophageal reflux	65125	WNK1	OMIM:201300
HP:0002020	Gastroesophageal reflux	54463	RETREG1	OMIM:201300
HP:0002020	Gastroesophageal reflux	6335	SCN9A	OMIM:201300
HP:0002020	Gastroesophageal reflux	547	KIF1A	OMIM:201300
HP:0002020	Gastroesophageal reflux	667	DST	OMIM:614653
HP:0002020	Gastroesophageal reflux	55690	PACS1	ORPHA:329224
HP:0002020	Gastroesophageal reflux	51053	GMNN	OMIM:616835
HP:0002020	Gastroesophageal reflux	10664	CTCF	OMIM:615502
HP:0002020	Gastroesophageal reflux	10664	CTCF	ORPHA:363611
HP:0002020	Gastroesophageal reflux	196528	ARID2	OMIM:617808
HP:0002020	Gastroesophageal reflux	1288	COL4A6	ORPHA:1018
HP:0002020	Gastroesophageal reflux	1287	COL4A5	ORPHA:1018
HP:0002020	Gastroesophageal reflux	91949	COG7	OMIM:608779
HP:0002020	Gastroesophageal reflux	9780	PIEZO1	OMIM:616843
HP:0002020	Gastroesophageal reflux	100151683	RNU4ATAC	OMIM:210710
HP:0002020	Gastroesophageal reflux	1305	COL13A1	OMIM:616720
HP:0002020	Gastroesophageal reflux	1305	COL13A1	ORPHA:98914
HP:0002020	Gastroesophageal reflux	1280	COL2A1	ORPHA:93316
HP:0002020	Gastroesophageal reflux	85358	SHANK3	OMIM:606232
HP:0002020	Gastroesophageal reflux	113235	SLC46A1	ORPHA:90045
HP:0002020	Gastroesophageal reflux	113179	ADAT3	ORPHA:363528
HP:0002020	Gastroesophageal reflux	11151	CORO1A	OMIM:615401
HP:0002020	Gastroesophageal reflux	54931	TRMT10C	OMIM:616974
HP:0002020	Gastroesophageal reflux	10157	AASS	ORPHA:2203
HP:0002020	Gastroesophageal reflux	3097	HIVEP2	OMIM:616977
HP:0002020	Gastroesophageal reflux	10560	SLC19A2	OMIM:249270
HP:0002020	Gastroesophageal reflux	6709	SPTAN1	OMIM:613477
HP:0002020	Gastroesophageal reflux	4358	MPV17	OMIM:256810
HP:0002020	Gastroesophageal reflux	9378	NRXN1	OMIM:614325
HP:0002020	Gastroesophageal reflux	5160	PDHA1	ORPHA:79243
HP:0002020	Gastroesophageal reflux	84693	MCEE	OMIM:251120
HP:0002020	Gastroesophageal reflux	10943	MSL3	OMIM:301032
HP:0002020	Gastroesophageal reflux	5723	PSPH	ORPHA:79350
HP:0002020	Gastroesophageal reflux	26227	PHGDH	ORPHA:79351
HP:0002020	Gastroesophageal reflux	59336	PRDM13	OMIM:619909
HP:0002020	Gastroesophageal reflux	6878	TAF6	ORPHA:199
HP:0002020	Gastroesophageal reflux	538	ATP7A	ORPHA:198
HP:0002020	Gastroesophageal reflux	7874	USP7	ORPHA:500055
HP:0002020	Gastroesophageal reflux	6628	SNRPB	OMIM:117650
HP:0002020	Gastroesophageal reflux	29957	SLC25A24	OMIM:612289
HP:0002020	Gastroesophageal reflux	80152	CENPT	OMIM:618702
HP:0002020	Gastroesophageal reflux	3575	IL7R	OMIM:608971
HP:0002020	Gastroesophageal reflux	6476	SI	ORPHA:35122
HP:0002020	Gastroesophageal reflux	5293	PIK3CD	ORPHA:221139
HP:0002020	Gastroesophageal reflux	90417	KNSTRN	ORPHA:221139
HP:0002020	Gastroesophageal reflux	8405	SPOP	OMIM:618829
HP:0002020	Gastroesophageal reflux	10128	LRPPRC	ORPHA:70472
HP:0002020	Gastroesophageal reflux	83737	ITCH	OMIM:613385
HP:0002020	Gastroesophageal reflux	283989	TSEN54	ORPHA:2524
HP:0002020	Gastroesophageal reflux	116461	TSEN15	ORPHA:2524
HP:0002020	Gastroesophageal reflux	79042	TSEN34	ORPHA:2524
HP:0002020	Gastroesophageal reflux	80746	TSEN2	ORPHA:2524
HP:0002020	Gastroesophageal reflux	51091	SEPSECS	ORPHA:2524
HP:0002020	Gastroesophageal reflux	57688	ZSWIM6	OMIM:617865
HP:0002020	Gastroesophageal reflux	2890	GRIA1	OMIM:619927
HP:0002020	Gastroesophageal reflux	60482	SLC5A7	ORPHA:98914
HP:0002020	Gastroesophageal reflux	4649	MYO9A	ORPHA:98914
HP:0002020	Gastroesophageal reflux	1103	CHAT	ORPHA:98914
HP:0002020	Gastroesophageal reflux	6576	SLC25A1	ORPHA:98914
HP:0002020	Gastroesophageal reflux	6843	VAMP1	ORPHA:98914
HP:0002020	Gastroesophageal reflux	375790	AGRN	ORPHA:98914
HP:0002020	Gastroesophageal reflux	127833	SYT2	ORPHA:98914
HP:0002020	Gastroesophageal reflux	6572	SLC18A3	ORPHA:98914
HP:0002020	Gastroesophageal reflux	6616	SNAP25	ORPHA:98914
HP:0002020	Gastroesophageal reflux	7291	TWIST1	OMIM:617746
HP:0002020	Gastroesophageal reflux	139285	AMER1	OMIM:300373
HP:0002020	Gastroesophageal reflux	440	ASNS	OMIM:615574
HP:0002020	Gastroesophageal reflux	6651	SON	ORPHA:500150
HP:0002020	Gastroesophageal reflux	9757	KMT2B	OMIM:619934
HP:0002020	Gastroesophageal reflux	5430	POLR2A	OMIM:618603
HP:0002020	Gastroesophageal reflux	57731	SPTBN4	OMIM:617519
HP:0002020	Gastroesophageal reflux	9203	ZMYM3	OMIM:301111
HP:0002020	Gastroesophageal reflux	29928	TIMM22	OMIM:618851
HP:0002020	Gastroesophageal reflux	8803	SUCLA2	OMIM:612073
HP:0002020	Gastroesophageal reflux	25871	NEPRO	OMIM:618853
HP:0004794	Malrotation of small bowel	113189	CHST14	ORPHA:2953
HP:0004794	Malrotation of small bowel	29940	DSE	ORPHA:2953
HP:0004794	Malrotation of small bowel	23522	KAT6B	OMIM:606170
HP:0004794	Malrotation of small bowel	54361	WNT4	ORPHA:139466
HP:0004794	Malrotation of small bowel	7468	NSD2	OMIM:194190
HP:0004794	Malrotation of small bowel	10815	CPLX1	OMIM:194190
HP:0004794	Malrotation of small bowel	1487	CTBP1	OMIM:194190
HP:0004794	Malrotation of small bowel	53834	FGFRL1	OMIM:194190
HP:0004794	Malrotation of small bowel	3954	LETM1	OMIM:194190
HP:0004795	Hamartomatous stomach polyps	5727	PTCH1	OMIM:109400
HP:0004796	Gastrointestinal obstruction	91574	MTRFR	ORPHA:254930
HP:0004796	Gastrointestinal obstruction	91574	MTRFR	OMIM:613559
HP:0004796	Gastrointestinal obstruction	2184	FAH	OMIM:276700
HP:0004796	Gastrointestinal obstruction	10092	ARPC5	OMIM:620565
HP:0004796	Gastrointestinal obstruction	1080	CFTR	OMIM:219700
HP:0004796	Gastrointestinal obstruction	2212	FCGR2A	OMIM:219700
HP:0004796	Gastrointestinal obstruction	7040	TGFB1	OMIM:219700
HP:0004796	Gastrointestinal obstruction	6535	SLC6A8	OMIM:300352
HP:0004796	Gastrointestinal obstruction	6535	SLC6A8	ORPHA:52503
HP:0004796	Gastrointestinal obstruction	2130	EWSR1	ORPHA:83469
HP:0004796	Gastrointestinal obstruction	7490	WT1	ORPHA:83469
HP:0004796	Gastrointestinal obstruction	50943	FOXP3	ORPHA:37042
HP:0004796	Gastrointestinal obstruction	50943	FOXP3	OMIM:304790
HP:0004796	Gastrointestinal obstruction	284119	CAVIN1	OMIM:613327
HP:0004796	Gastrointestinal obstruction	5498	PPOX	ORPHA:79473
HP:0004796	Gastrointestinal obstruction	3145	HMBS	ORPHA:79276
HP:0004796	Gastrointestinal obstruction	26153	KIF26A	OMIM:620156
HP:0004796	Gastrointestinal obstruction	6572	SLC18A3	OMIM:617239
HP:0004796	Gastrointestinal obstruction	2984	GUCY2C	OMIM:614665
HP:0004796	Gastrointestinal obstruction	6804	STX1A	ORPHA:586
HP:0004796	Gastrointestinal obstruction	2947	GSTM3	ORPHA:586
HP:0004796	Gastrointestinal obstruction	2729	GCLC	ORPHA:586
HP:0004796	Gastrointestinal obstruction	1084	CEACAM3	ORPHA:586
HP:0004796	Gastrointestinal obstruction	6556	SLC11A1	ORPHA:586
HP:0004796	Gastrointestinal obstruction	51164	DCTN4	ORPHA:586
HP:0004796	Gastrointestinal obstruction	3783	KCNN4	ORPHA:586
HP:0004796	Gastrointestinal obstruction	4282	MIF	ORPHA:586
HP:0004796	Gastrointestinal obstruction	1909	EDNRA	ORPHA:586
HP:0004796	Gastrointestinal obstruction	6550	SLC9A3	ORPHA:586
HP:0004796	Gastrointestinal obstruction	3162	HMOX1	ORPHA:586
HP:0004796	Gastrointestinal obstruction	115019	SLC26A9	ORPHA:586
HP:0004796	Gastrointestinal obstruction	3077	HFE	ORPHA:586
HP:0004796	Gastrointestinal obstruction	11254	SLC6A14	ORPHA:586
HP:0004796	Gastrointestinal obstruction	5265	SERPINA1	ORPHA:586
HP:0004796	Gastrointestinal obstruction	22802	CLCA4	ORPHA:586
HP:0004796	Gastrointestinal obstruction	4680	CEACAM6	ORPHA:586
HP:0004796	Gastrointestinal obstruction	3110	MNX1	OMIM:176450
HP:0004796	Gastrointestinal obstruction	1499	CTNNB1	ORPHA:873
HP:0004796	Gastrointestinal obstruction	324	APC	ORPHA:873
HP:0004796	Gastrointestinal obstruction	4629	MYH11	OMIM:619350
HP:0004796	Gastrointestinal obstruction	4854	NOTCH3	ORPHA:2591
HP:0004796	Gastrointestinal obstruction	5159	PDGFRB	ORPHA:2591
HP:0004796	Gastrointestinal obstruction	6390	SDHB	ORPHA:97286
HP:0004796	Gastrointestinal obstruction	6390	SDHB	ORPHA:44890
HP:0004796	Gastrointestinal obstruction	6390	SDHB	OMIM:606764
HP:0004796	Gastrointestinal obstruction	6391	SDHC	ORPHA:97286
HP:0004796	Gastrointestinal obstruction	6391	SDHC	ORPHA:44890
HP:0004796	Gastrointestinal obstruction	6391	SDHC	OMIM:606764
HP:0004796	Gastrointestinal obstruction	6392	SDHD	ORPHA:97286
HP:0004796	Gastrointestinal obstruction	811	CALR	ORPHA:131
HP:0004796	Gastrointestinal obstruction	3717	JAK2	ORPHA:131
HP:0004796	Gastrointestinal obstruction	2153	F5	ORPHA:131
HP:0004796	Gastrointestinal obstruction	57217	TTC7A	OMIM:243150
HP:0004796	Gastrointestinal obstruction	6389	SDHA	ORPHA:44890
HP:0004796	Gastrointestinal obstruction	5156	PDGFRA	ORPHA:44890
HP:0004796	Gastrointestinal obstruction	3815	KIT	ORPHA:44890
HP:0004796	Gastrointestinal obstruction	3815	KIT	OMIM:606764
HP:0004796	Gastrointestinal obstruction	1493	CTLA4	ORPHA:900
HP:0004796	Gastrointestinal obstruction	26191	PTPN22	ORPHA:900
HP:0004796	Gastrointestinal obstruction	3115	HLA-DPB1	ORPHA:900
HP:0004796	Gastrointestinal obstruction	5657	PRTN3	ORPHA:900
HP:0004796	Gastrointestinal obstruction	3113	HLA-DPA1	ORPHA:900
HP:0004796	Gastrointestinal obstruction	2202	EFEMP1	OMIM:620780
HP:0004796	Gastrointestinal obstruction	4598	MVK	ORPHA:343
HP:0004796	Gastrointestinal obstruction	2131	EXT1	ORPHA:321
HP:0004796	Gastrointestinal obstruction	2132	EXT2	ORPHA:321
HP:0004796	Gastrointestinal obstruction	4210	MEFV	ORPHA:342
HP:0004796	Gastrointestinal obstruction	4609	MYC	ORPHA:543
HP:0004796	Gastrointestinal obstruction	215	ABCD1	ORPHA:388
HP:0004796	Gastrointestinal obstruction	5979	RET	ORPHA:388
HP:0004796	Gastrointestinal obstruction	2668	GDNF	ORPHA:388
HP:0004796	Gastrointestinal obstruction	6608	SMO	ORPHA:388
HP:0004796	Gastrointestinal obstruction	1889	ECE1	ORPHA:388
HP:0004796	Gastrointestinal obstruction	6720	SREBF1	ORPHA:388
HP:0004796	Gastrointestinal obstruction	1908	EDN3	ORPHA:388
HP:0004796	Gastrointestinal obstruction	1908	EDN3	ORPHA:897
HP:0004796	Gastrointestinal obstruction	223117	SEMA3D	ORPHA:388
HP:0004796	Gastrointestinal obstruction	538	ATP7A	ORPHA:388
HP:0004796	Gastrointestinal obstruction	1910	EDNRB	ORPHA:388
HP:0004796	Gastrointestinal obstruction	1910	EDNRB	ORPHA:897
HP:0004796	Gastrointestinal obstruction	10512	SEMA3C	ORPHA:388
HP:0004796	Gastrointestinal obstruction	2064	ERBB2	ORPHA:388
HP:0004796	Gastrointestinal obstruction	2065	ERBB3	ORPHA:388
HP:0004796	Gastrointestinal obstruction	4902	NRTN	ORPHA:388
HP:0004796	Gastrointestinal obstruction	2068	ERCC2	OMIM:601675
HP:0004796	Gastrointestinal obstruction	1604	CD55	OMIM:226300
HP:0004796	Gastrointestinal obstruction	3718	JAK3	OMIM:600802
HP:0004796	Gastrointestinal obstruction	64127	NOD2	OMIM:266600
HP:0004796	Gastrointestinal obstruction	3569	IL6	OMIM:266600
HP:0004796	Gastrointestinal obstruction	6905	TBCE	ORPHA:2323
HP:0004796	Gastrointestinal obstruction	6794	STK11	ORPHA:2869
HP:0004796	Gastrointestinal obstruction	7132	TNFRSF1A	ORPHA:32960
HP:0004796	Gastrointestinal obstruction	4286	MITF	ORPHA:897
HP:0004796	Gastrointestinal obstruction	6663	SOX10	ORPHA:897
HP:0004796	Gastrointestinal obstruction	672	BRCA1	ORPHA:1333
HP:0004796	Gastrointestinal obstruction	285282	RABL3	ORPHA:1333
HP:0004796	Gastrointestinal obstruction	7157	TP53	ORPHA:1333
HP:0004796	Gastrointestinal obstruction	675	BRCA2	ORPHA:1333
HP:0004796	Gastrointestinal obstruction	3845	KRAS	ORPHA:1333
HP:0004796	Gastrointestinal obstruction	1029	CDKN2A	ORPHA:1333
HP:0004796	Gastrointestinal obstruction	79728	PALB2	ORPHA:1333
HP:0004796	Gastrointestinal obstruction	4089	SMAD4	ORPHA:1333
HP:0004796	Gastrointestinal obstruction	23022	PALLD	ORPHA:1333
HP:0004798	Recurrent infection of the gastrointestinal tract	10312	TCIRG1	ORPHA:486
HP:0004798	Recurrent infection of the gastrointestinal tract	6728	SRP19	ORPHA:486
HP:0004798	Recurrent infection of the gastrointestinal tract	1991	ELANE	ORPHA:486
HP:0004798	Recurrent infection of the gastrointestinal tract	2672	GFI1	ORPHA:486
HP:0004798	Recurrent infection of the gastrointestinal tract	81570	CLPB	ORPHA:486
HP:0004798	Recurrent infection of the gastrointestinal tract	23495	TNFRSF13B	OMIM:609529
HP:0004798	Recurrent infection of the gastrointestinal tract	25839	COG4	ORPHA:263501
HP:0004798	Recurrent infection of the gastrointestinal tract	25839	COG4	OMIM:613489
HP:0004798	Recurrent infection of the gastrointestinal tract	57379	AICDA	OMIM:605258
HP:0004798	Recurrent infection of the gastrointestinal tract	5994	RFXAP	ORPHA:572
HP:0004798	Recurrent infection of the gastrointestinal tract	4261	CIITA	ORPHA:572
HP:0004798	Recurrent infection of the gastrointestinal tract	5993	RFX5	ORPHA:572
HP:0004798	Recurrent infection of the gastrointestinal tract	8625	RFXANK	ORPHA:572
HP:0004798	Recurrent infection of the gastrointestinal tract	29071	C1GALT1C1	OMIM:301110
HP:0004798	Recurrent infection of the gastrointestinal tract	4683	NBN	OMIM:251260
HP:0004798	Recurrent infection of the gastrointestinal tract	11005	SPINK5	OMIM:256500
HP:0004798	Recurrent infection of the gastrointestinal tract	4792	NFKBIA	OMIM:612132
HP:0004798	Recurrent infection of the gastrointestinal tract	6891	TAP2	OMIM:620813
HP:0004798	Recurrent infection of the gastrointestinal tract	50615	IL21R	OMIM:615207
HP:0004798	Recurrent infection of the gastrointestinal tract	8456	FOXN1	ORPHA:83471
HP:0004798	Recurrent infection of the gastrointestinal tract	7535	ZAP70	ORPHA:911
HP:0004798	Recurrent infection of the gastrointestinal tract	3718	JAK3	ORPHA:35078
HP:0004798	Recurrent infection of the gastrointestinal tract	3459	IFNGR1	OMIM:600263
HP:0004798	Recurrent infection of the gastrointestinal tract	2321	FLT1	ORPHA:275555
HP:0004798	Recurrent infection of the gastrointestinal tract	219736	STOX1	ORPHA:275555
HP:0004798	Recurrent infection of the gastrointestinal tract	10699	CORIN	ORPHA:275555
HP:0004798	Recurrent infection of the gastrointestinal tract	146206	CARMIL2	OMIM:618131
HP:0004798	Recurrent infection of the gastrointestinal tract	4791	NFKB2	OMIM:615577
HP:0004798	Recurrent infection of the gastrointestinal tract	29927	SEC61A1	OMIM:620670
HP:0004798	Recurrent infection of the gastrointestinal tract	641	BLM	ORPHA:125
HP:0004798	Recurrent infection of the gastrointestinal tract	4125	MAN2B1	ORPHA:309282
HP:0004798	Recurrent infection of the gastrointestinal tract	4125	MAN2B1	ORPHA:309288
HP:0004798	Recurrent infection of the gastrointestinal tract	65082	VPS33A	ORPHA:505248
HP:0004798	Recurrent infection of the gastrointestinal tract	64421	DCLRE1C	ORPHA:275
HP:0004798	Recurrent infection of the gastrointestinal tract	139818	DOCK11	OMIM:301109
HP:0004798	Recurrent infection of the gastrointestinal tract	113179	ADAT3	ORPHA:363528
HP:0004798	Recurrent infection of the gastrointestinal tract	10379	IRF9	OMIM:618648
HP:0004798	Recurrent infection of the gastrointestinal tract	50943	FOXP3	ORPHA:37042
HP:0004798	Recurrent infection of the gastrointestinal tract	916	CD3E	OMIM:615615
HP:0004798	Recurrent infection of the gastrointestinal tract	917	CD3G	OMIM:615607
HP:0004798	Recurrent infection of the gastrointestinal tract	3431	SP110	ORPHA:79124
HP:0004798	Recurrent infection of the gastrointestinal tract	55343	SLC35C1	ORPHA:99843
HP:0004798	Recurrent infection of the gastrointestinal tract	6868	ADAM17	ORPHA:294023
HP:0004798	Recurrent infection of the gastrointestinal tract	1956	EGFR	ORPHA:294023
HP:0007980	Absent retinal pigment epithelium	2677	GGCX	ORPHA:436274
HP:0007980	Absent retinal pigment epithelium	5961	PRPH2	ORPHA:75377
HP:0007980	Absent retinal pigment epithelium	3000	GUCY2D	ORPHA:75377
HP:0007980	Absent retinal pigment epithelium	2978	GUCA1A	ORPHA:75377
HP:0001540	Diastasis recti	79158	GNPTAB	ORPHA:576
HP:0001540	Diastasis recti	79158	GNPTAB	ORPHA:423461
HP:0001540	Diastasis recti	79158	GNPTAB	OMIM:252500
HP:0001540	Diastasis recti	64840	PORCN	OMIM:305600
HP:0001540	Diastasis recti	64840	PORCN	ORPHA:2092
HP:0001540	Diastasis recti	2294	FOXF1	OMIM:265380
HP:0001540	Diastasis recti	388015	RTL1	ORPHA:254534
HP:0001540	Diastasis recti	388015	RTL1	ORPHA:254528
HP:0001540	Diastasis recti	388015	RTL1	ORPHA:96334
HP:0001540	Diastasis recti	8788	DLK1	ORPHA:254534
HP:0001540	Diastasis recti	8788	DLK1	ORPHA:254528
HP:0001540	Diastasis recti	8788	DLK1	ORPHA:96334
HP:0001540	Diastasis recti	55384	MEG3	ORPHA:254534
HP:0001540	Diastasis recti	55384	MEG3	ORPHA:254528
HP:0001540	Diastasis recti	55384	MEG3	ORPHA:96334
HP:0001540	Diastasis recti	10584	COLEC10	OMIM:248340
HP:0001540	Diastasis recti	10584	COLEC10	ORPHA:293843
HP:0001540	Diastasis recti	1028	CDKN1C	OMIM:130650
HP:0001540	Diastasis recti	3481	IGF2	OMIM:130650
HP:0001540	Diastasis recti	3481	IGF2	ORPHA:231140
HP:0001540	Diastasis recti	3784	KCNQ1	OMIM:130650
HP:0001540	Diastasis recti	10984	KCNQ1OT1	OMIM:130650
HP:0001540	Diastasis recti	145173	B3GLCT	OMIM:261540
HP:0001540	Diastasis recti	2990	GUSB	OMIM:253220
HP:0001540	Diastasis recti	5648	MASP1	OMIM:257920
HP:0001540	Diastasis recti	5648	MASP1	ORPHA:293843
HP:0001540	Diastasis recti	2146	EZH2	OMIM:277590
HP:0001540	Diastasis recti	78989	COLEC11	ORPHA:293843
HP:0001540	Diastasis recti	78989	COLEC11	OMIM:265050
HP:0001540	Diastasis recti	9091	PIGQ	OMIM:618548
HP:0001540	Diastasis recti	63916	ELMO2	OMIM:606893
HP:0001540	Diastasis recti	283120	H19	ORPHA:231140
HP:0001540	Diastasis recti	113189	CHST14	OMIM:601776
HP:0001540	Diastasis recti	55553	SOX6	OMIM:618971
HP:0001540	Diastasis recti	283489	CHAMP1	OMIM:616579
HP:0001540	Diastasis recti	2475	MTOR	ORPHA:457485
HP:0001540	Diastasis recti	2475	MTOR	OMIM:616638
HP:0001540	Diastasis recti	55012	PPP2R3C	OMIM:618419
HP:0001540	Diastasis recti	93627	TBCK	ORPHA:488632
HP:0001540	Diastasis recti	2719	GPC3	OMIM:312870
HP:0001540	Diastasis recti	2239	GPC4	OMIM:312870
HP:0001540	Diastasis recti	23729	SHPK	ORPHA:440713
HP:0001541	Ascites	10159	ATP6AP2	OMIM:301045
HP:0001541	Ascites	83483	PLVAP	OMIM:618183
HP:0001541	Ascites	171023	ASXL1	ORPHA:98850
HP:0001541	Ascites	54790	TET2	ORPHA:98850
HP:0001541	Ascites	867	CBL	ORPHA:98850
HP:0001541	Ascites	861	RUNX1	ORPHA:98850
HP:0001541	Ascites	6427	SRSF2	ORPHA:98850
HP:0001541	Ascites	51422	PRKAG2	OMIM:261740
HP:0001541	Ascites	10112	KIF20A	OMIM:619433
HP:0001541	Ascites	9780	PIEZO1	OMIM:616843
HP:0001541	Ascites	2632	GBE1	OMIM:232500
HP:0001541	Ascites	8425	LTBP4	OMIM:613177
HP:0001541	Ascites	25821	MTO1	OMIM:614702
HP:0001541	Ascites	3932	LCK	OMIM:615758
HP:0001541	Ascites	3875	KRT18	OMIM:215600
HP:0001541	Ascites	6775	STAT4	ORPHA:93552
HP:0001541	Ascites	6696	SPP1	ORPHA:93552
HP:0001541	Ascites	6303	SAT1	ORPHA:93552
HP:0001541	Ascites	3654	IRAK1	ORPHA:93552
HP:0001541	Ascites	79796	ALG9	OMIM:608776
HP:0001541	Ascites	1776	DNASE1L3	ORPHA:36412
HP:0001541	Ascites	4758	NEU1	OMIM:256550
HP:0001541	Ascites	4758	NEU1	ORPHA:93400
HP:0001541	Ascites	596	BCL2	ORPHA:545
HP:0001541	Ascites	3492	IGH	ORPHA:545
HP:0001541	Ascites	3123	HLA-DRB1	ORPHA:545
HP:0001541	Ascites	604	BCL6	ORPHA:545
HP:0001541	Ascites	2629	GBA1	OMIM:608013
HP:0001541	Ascites	2629	GBA1	ORPHA:77259
HP:0001541	Ascites	5314	PKHD1	ORPHA:53035
HP:0001541	Ascites	5314	PKHD1	ORPHA:731
HP:0001541	Ascites	56945	MRPS22	OMIM:611719
HP:0001541	Ascites	197131	UBR1	OMIM:243800
HP:0001541	Ascites	23395	LARS2	OMIM:617021
HP:0001541	Ascites	939	CD27	OMIM:615122
HP:0001541	Ascites	2130	EWSR1	ORPHA:83469
HP:0001541	Ascites	7490	WT1	ORPHA:83469
HP:0001541	Ascites	2050	EPHB4	OMIM:617300
HP:0001541	Ascites	23426	GRIP1	OMIM:617667
HP:0001541	Ascites	54345	SOX18	ORPHA:69735
HP:0001541	Ascites	10216	PRG4	ORPHA:2848
HP:0001541	Ascites	7248	TSC1	ORPHA:538
HP:0001541	Ascites	7249	TSC2	ORPHA:538
HP:0001541	Ascites	3930	LBR	ORPHA:779
HP:0001541	Ascites	2592	GALT	ORPHA:79239
HP:0001541	Ascites	427	ASAH1	ORPHA:333
HP:0001541	Ascites	51473	DCDC2	OMIM:617394
HP:0001541	Ascites	51473	DCDC2	ORPHA:84081
HP:0001541	Ascites	2859	GPR35	ORPHA:171
HP:0001541	Ascites	10507	SEMA4D	ORPHA:171
HP:0001541	Ascites	4485	MST1	ORPHA:171
HP:0001541	Ascites	6925	TCF4	ORPHA:171
HP:0001541	Ascites	50619	DEF6	OMIM:619573
HP:0001541	Ascites	7019	TFAM	OMIM:617156
HP:0001541	Ascites	11274	USP18	OMIM:617397
HP:0001541	Ascites	4358	MPV17	OMIM:256810
HP:0001541	Ascites	55109	AGGF1	ORPHA:90308
HP:0001541	Ascites	5290	PIK3CA	ORPHA:90308
HP:0001541	Ascites	2492	FSHR	OMIM:608115
HP:0001541	Ascites	2492	FSHR	ORPHA:64739
HP:0001541	Ascites	3431	SP110	ORPHA:79124
HP:0001541	Ascites	1716	DGUOK	OMIM:251880
HP:0001541	Ascites	9184	BUB3	ORPHA:1052
HP:0001541	Ascites	699	BUB1	ORPHA:1052
HP:0001541	Ascites	9702	CEP57	ORPHA:1052
HP:0001541	Ascites	9319	TRIP13	ORPHA:1052
HP:0001541	Ascites	701	BUB1B	ORPHA:1052
HP:0001541	Ascites	5277	PIGA	OMIM:300868
HP:0001541	Ascites	55340	GIMAP5	OMIM:619463
HP:0001541	Ascites	4591	TRIM37	OMIM:253250
HP:0001541	Ascites	9971	NR1H4	OMIM:617049
HP:0001541	Ascites	9971	NR1H4	ORPHA:69665
HP:0001541	Ascites	79053	ALG8	OMIM:608104
HP:0001541	Ascites	79053	ALG8	ORPHA:79325
HP:0001541	Ascites	63901	FAM111A	OMIM:602361
HP:0001541	Ascites	2313	FLI1	ORPHA:370348
HP:0001541	Ascites	650	BMP2	OMIM:235200
HP:0001541	Ascites	3077	HFE	OMIM:235200
HP:0001541	Ascites	129563	DIS3L2	OMIM:267000
HP:0001541	Ascites	4607	MYBPC3	OMIM:115197
HP:0001541	Ascites	5167	ENPP1	ORPHA:51608
HP:0001541	Ascites	368	ABCC6	ORPHA:51608
HP:0001541	Ascites	54914	FOCAD	OMIM:619991
HP:0001541	Ascites	222546	RFX6	OMIM:615710
HP:0001541	Ascites	9508	ADAMTS3	ORPHA:2136
HP:0001541	Ascites	147372	CCBE1	ORPHA:2136
HP:0001541	Ascites	79633	FAT4	ORPHA:2136
HP:0001541	Ascites	540	ATP7B	ORPHA:905
HP:0001541	Ascites	540	ATP7B	OMIM:277900
HP:0001541	Ascites	10056	FARSB	OMIM:613658
HP:0001541	Ascites	5428	POLG	OMIM:203700
HP:0001541	Ascites	5589	PRKCSH	OMIM:174050
HP:0001541	Ascites	6609	SMPD1	OMIM:257200
HP:0001541	Ascites	4210	MEFV	ORPHA:342
HP:0001541	Ascites	2990	GUSB	ORPHA:584
HP:0001541	Ascites	81	ACTN4	OMIM:603278
HP:0001541	Ascites	5244	ABCB4	OMIM:602347
HP:0001541	Ascites	5244	ABCB4	ORPHA:69665
HP:0001541	Ascites	3594	IL12RB1	ORPHA:186
HP:0001541	Ascites	23534	TNPO3	ORPHA:186
HP:0001541	Ascites	3592	IL12A	ORPHA:186
HP:0001541	Ascites	6689	SPIB	ORPHA:186
HP:0001541	Ascites	5450	POU2AF1	ORPHA:186
HP:0001541	Ascites	9966	TNFSF15	ORPHA:186
HP:0001541	Ascites	79258	MMEL1	ORPHA:186
HP:0001541	Ascites	3663	IRF5	ORPHA:186
HP:0001541	Ascites	100147744	RNU7-1	OMIM:619487
HP:0001541	Ascites	5205	ATP8B1	ORPHA:69665
HP:0001541	Ascites	8647	ABCB11	ORPHA:69665
HP:0001541	Ascites	202018	TAPT1	OMIM:616897
HP:0001541	Ascites	91147	TMEM67	ORPHA:84081
HP:0001541	Ascites	5573	PRKAR1A	ORPHA:615
HP:0001541	Ascites	3516	RBPJ	ORPHA:974
HP:0001541	Ascites	4851	NOTCH1	ORPHA:974
HP:0001541	Ascites	57514	ARHGAP31	ORPHA:974
HP:0001541	Ascites	57572	DOCK6	ORPHA:974
HP:0001541	Ascites	285203	EOGT	ORPHA:974
HP:0001541	Ascites	54567	DLL4	ORPHA:974
HP:0001541	Ascites	199221	DZIP1L	ORPHA:731
HP:0001541	Ascites	2767	GNA11	ORPHA:1556
HP:0001541	Ascites	151188	ARL6IP6	ORPHA:1556
HP:0001541	Ascites	2271	FH	OMIM:606812
HP:0001541	Ascites	3988	LIPA	ORPHA:75233
HP:0001541	Ascites	811	CALR	ORPHA:131
HP:0001541	Ascites	3717	JAK2	ORPHA:131
HP:0001541	Ascites	2153	F5	ORPHA:131
HP:0001541	Ascites	79989	IFT56	OMIM:619534
HP:0001541	Ascites	26503	SLC17A5	OMIM:269920
HP:0001541	Ascites	79651	RHBDF2	ORPHA:2198
HP:0001541	Ascites	6329	SCN4A	OMIM:620369
HP:0001541	Ascites	2184	FAH	OMIM:276700
HP:0001541	Ascites	2072	ERCC4	OMIM:610965
HP:0001541	Ascites	55901	THSD1	OMIM:620244
HP:0001541	Ascites	9451	EIF2AK3	ORPHA:1667
HP:0001541	Ascites	28962	OSTM1	OMIM:259720
HP:0001541	Ascites	57539	WDR35	OMIM:614091
HP:0001541	Ascites	1536	CYBB	OMIM:306400
HP:0001541	Ascites	1604	CD55	OMIM:226300
HP:0001541	Ascites	950	SCARB2	ORPHA:77259
HP:0001541	Ascites	2783	GNB2	OMIM:619503
HP:0001541	Ascites	10577	NPC2	OMIM:607625
HP:0001541	Ascites	3295	HSD17B4	OMIM:261515
HP:0001541	Ascites	29969	MDFIC	OMIM:620014
HP:0001541	Ascites	4864	NPC1	OMIM:257220
HP:0001541	Ascites	5745	PTH1R	OMIM:215045
HP:0001541	Ascites	6007	RHD	OMIM:619462
HP:0001541	Ascites	1984	EIF5A	OMIM:619376
HP:0003270	Abdominal distention	2261	FGFR3	OMIM:187600
HP:0003270	Abdominal distention	9851	KIAA0753	OMIM:619479
HP:0003270	Abdominal distention	1594	CYP27B1	ORPHA:289157
HP:0003270	Abdominal distention	1594	CYP27B1	OMIM:264700
HP:0003270	Abdominal distention	120227	CYP2R1	ORPHA:289157
HP:0003270	Abdominal distention	579	NKX3-2	OMIM:613330
HP:0003270	Abdominal distention	2542	SLC37A4	OMIM:232220
HP:0003270	Abdominal distention	2542	SLC37A4	ORPHA:79259
HP:0003270	Abdominal distention	22947	DUX4L1	ORPHA:269
HP:0003270	Abdominal distention	1789	DNMT3B	ORPHA:269
HP:0003270	Abdominal distention	2483	FRG1	ORPHA:269
HP:0003270	Abdominal distention	23347	SMCHD1	ORPHA:269
HP:0003270	Abdominal distention	100288687	DUX4	ORPHA:269
HP:0003270	Abdominal distention	6609	SMPD1	OMIM:257200
HP:0003270	Abdominal distention	23405	DICER1	OMIM:618272
HP:0003270	Abdominal distention	2200	FBN1	OMIM:608328
HP:0003270	Abdominal distention	3636	INPPL1	OMIM:258480
HP:0003270	Abdominal distention	51098	IFT52	OMIM:617102
HP:0003270	Abdominal distention	23169	SLC35D1	OMIM:269250
HP:0003270	Abdominal distention	388015	RTL1	ORPHA:96334
HP:0003270	Abdominal distention	8788	DLK1	ORPHA:96334
HP:0003270	Abdominal distention	55384	MEG3	ORPHA:96334
HP:0003270	Abdominal distention	79158	GNPTAB	OMIM:252500
HP:0003270	Abdominal distention	79158	GNPTAB	ORPHA:576
HP:0003270	Abdominal distention	3930	LBR	OMIM:215140
HP:0003270	Abdominal distention	3930	LBR	OMIM:618019
HP:0003270	Abdominal distention	10020	GNE	OMIM:269921
HP:0003270	Abdominal distention	2990	GUSB	OMIM:253220
HP:0003270	Abdominal distention	2538	G6PC1	OMIM:232200
HP:0003270	Abdominal distention	7994	KAT6A	OMIM:616268
HP:0003270	Abdominal distention	1302	COL11A2	OMIM:614524
HP:0003270	Abdominal distention	55764	IFT122	OMIM:218330
HP:0003270	Abdominal distention	2317	FLNB	OMIM:108720
HP:0003270	Abdominal distention	2629	GBA1	OMIM:230900
HP:0003270	Abdominal distention	5745	PTH1R	ORPHA:50945
HP:0003270	Abdominal distention	1301	COL11A1	OMIM:228520
HP:0003270	Abdominal distention	7421	VDR	OMIM:277440
HP:0003270	Abdominal distention	2475	MTOR	ORPHA:457485
HP:0003270	Abdominal distention	29968	PSAT1	OMIM:616038
HP:0003270	Abdominal distention	3425	IDUA	OMIM:607014
HP:0003270	Abdominal distention	5696	PSMB8	OMIM:256040
HP:0003270	Abdominal distention	168667	BMPER	OMIM:608022
HP:0003270	Abdominal distention	65992	DDRGK1	OMIM:602557
HP:0003270	Abdominal distention	65992	DDRGK1	ORPHA:93352
HP:0003270	Abdominal distention	6809	STX3	ORPHA:2290
HP:0003270	Abdominal distention	6809	STX3	OMIM:619445
HP:0003270	Abdominal distention	4645	MYO5B	ORPHA:2290
HP:0003270	Abdominal distention	5339	PLEC	ORPHA:158684
HP:0003270	Abdominal distention	3691	ITGB4	ORPHA:158684
HP:0003270	Abdominal distention	3691	ITGB4	ORPHA:79403
HP:0003270	Abdominal distention	79827	CLMP	OMIM:615237
HP:0003270	Abdominal distention	3875	KRT18	OMIM:215600
HP:0003270	Abdominal distention	6775	STAT4	ORPHA:93552
HP:0003270	Abdominal distention	6696	SPP1	ORPHA:93552
HP:0003270	Abdominal distention	6303	SAT1	ORPHA:93552
HP:0003270	Abdominal distention	3654	IRAK1	ORPHA:93552
HP:0003270	Abdominal distention	9839	ZEB2	OMIM:235730
HP:0003270	Abdominal distention	2038	EPB42	ORPHA:822
HP:0003270	Abdominal distention	6521	SLC4A1	ORPHA:822
HP:0003270	Abdominal distention	6710	SPTB	ORPHA:822
HP:0003270	Abdominal distention	6708	SPTA1	ORPHA:822
HP:0003270	Abdominal distention	286	ANK1	ORPHA:822
HP:0003270	Abdominal distention	3655	ITGA6	ORPHA:79403
HP:0003270	Abdominal distention	215	ABCD1	ORPHA:388
HP:0003270	Abdominal distention	5979	RET	ORPHA:388
HP:0003270	Abdominal distention	5979	RET	OMIM:142623
HP:0003270	Abdominal distention	2668	GDNF	ORPHA:388
HP:0003270	Abdominal distention	6608	SMO	ORPHA:388
HP:0003270	Abdominal distention	1889	ECE1	ORPHA:388
HP:0003270	Abdominal distention	6720	SREBF1	ORPHA:388
HP:0003270	Abdominal distention	1908	EDN3	ORPHA:388
HP:0003270	Abdominal distention	223117	SEMA3D	ORPHA:388
HP:0003270	Abdominal distention	538	ATP7A	ORPHA:388
HP:0003270	Abdominal distention	1910	EDNRB	ORPHA:388
HP:0003270	Abdominal distention	10512	SEMA3C	ORPHA:388
HP:0003270	Abdominal distention	2064	ERBB2	ORPHA:388
HP:0003270	Abdominal distention	2065	ERBB3	ORPHA:388
HP:0003270	Abdominal distention	4902	NRTN	ORPHA:388
HP:0003270	Abdominal distention	7849	PAX8	OMIM:218700
HP:0003270	Abdominal distention	7849	PAX8	ORPHA:95720
HP:0003270	Abdominal distention	7849	PAX8	ORPHA:95713
HP:0003270	Abdominal distention	7849	PAX8	ORPHA:95712
HP:0003270	Abdominal distention	55112	DYNC2I1	ORPHA:93271
HP:0003270	Abdominal distention	57560	IFT80	ORPHA:93271
HP:0003270	Abdominal distention	57539	WDR35	ORPHA:93271
HP:0003270	Abdominal distention	79659	DYNC2H1	ORPHA:93271
HP:0003270	Abdominal distention	89891	DYNC2I2	ORPHA:93271
HP:0003270	Abdominal distention	6514	SLC2A2	OMIM:227810
HP:0003270	Abdominal distention	6514	SLC2A2	ORPHA:2088
HP:0003270	Abdominal distention	2130	EWSR1	ORPHA:83469
HP:0003270	Abdominal distention	7490	WT1	ORPHA:83469
HP:0003270	Abdominal distention	2050	EPHB4	OMIM:617300
HP:0003270	Abdominal distention	341640	FREM2	OMIM:617666
HP:0003270	Abdominal distention	672	BRCA1	ORPHA:168829
HP:0003270	Abdominal distention	72	ACTG2	ORPHA:2604
HP:0003270	Abdominal distention	72	ACTG2	ORPHA:2241
HP:0003270	Abdominal distention	72	ACTG2	OMIM:155310
HP:0003270	Abdominal distention	6523	SLC5A1	ORPHA:35710
HP:0003270	Abdominal distention	6523	SLC5A1	OMIM:606824
HP:0003270	Abdominal distention	145873	MESP2	OMIM:277300
HP:0003270	Abdominal distention	10683	DLL3	OMIM:277300
HP:0003270	Abdominal distention	1353	COX11	OMIM:620275
HP:0003270	Abdominal distention	3988	LIPA	OMIM:620151
HP:0003270	Abdominal distention	3988	LIPA	ORPHA:75233
HP:0003270	Abdominal distention	7253	TSHR	ORPHA:95720
HP:0003270	Abdominal distention	7253	TSHR	ORPHA:95713
HP:0003270	Abdominal distention	5172	SLC26A4	ORPHA:95720
HP:0003270	Abdominal distention	5172	SLC26A4	ORPHA:95713
HP:0003270	Abdominal distention	4868	NPHS1	OMIM:256300
HP:0003270	Abdominal distention	54808	DYM	OMIM:223800
HP:0003270	Abdominal distention	5428	POLG	ORPHA:298
HP:0003270	Abdominal distention	5428	POLG	OMIM:613662
HP:0003270	Abdominal distention	1890	TYMP	ORPHA:298
HP:0003270	Abdominal distention	3980	LIG3	ORPHA:298
HP:0003270	Abdominal distention	50484	RRM2B	ORPHA:298
HP:0003270	Abdominal distention	410	ARSA	ORPHA:309271
HP:0003270	Abdominal distention	410	ARSA	ORPHA:309263
HP:0003270	Abdominal distention	410	ARSA	ORPHA:309256
HP:0003270	Abdominal distention	5660	PSAP	ORPHA:309271
HP:0003270	Abdominal distention	5660	PSAP	ORPHA:309263
HP:0003270	Abdominal distention	5660	PSAP	ORPHA:309256
HP:0003270	Abdominal distention	4072	EPCAM	ORPHA:92050
HP:0003270	Abdominal distention	105371045	PERCC1	ORPHA:92050
HP:0003270	Abdominal distention	55687	TRMU	OMIM:613070
HP:0003270	Abdominal distention	7019	TFAM	OMIM:617156
HP:0003270	Abdominal distention	3643	INSR	OMIM:246200
HP:0003270	Abdominal distention	3643	INSR	ORPHA:508
HP:0003270	Abdominal distention	11232	POLG2	OMIM:618528
HP:0003270	Abdominal distention	7080	NKX2-1	ORPHA:95713
HP:0003270	Abdominal distention	1482	NKX2-5	ORPHA:95713
HP:0003270	Abdominal distention	1482	NKX2-5	ORPHA:95712
HP:0003270	Abdominal distention	2304	FOXE1	ORPHA:95713
HP:0003270	Abdominal distention	4358	MPV17	OMIM:256810
HP:0003270	Abdominal distention	6550	SLC9A3	OMIM:616868
HP:0003270	Abdominal distention	3117	HLA-DQA1	OMIM:212750
HP:0003270	Abdominal distention	3119	HLA-DQB1	OMIM:212750
HP:0003270	Abdominal distention	55107	ANO1	OMIM:620045
HP:0003270	Abdominal distention	1717	DHCR7	OMIM:270400
HP:0003270	Abdominal distention	26175	LYSET	OMIM:619345
HP:0003270	Abdominal distention	5277	PIGA	OMIM:300868
HP:0003270	Abdominal distention	79867	TCTN2	OMIM:613885
HP:0003270	Abdominal distention	79053	ALG8	OMIM:608104
HP:0003270	Abdominal distention	2313	FLI1	ORPHA:370348
HP:0003270	Abdominal distention	1836	SLC26A2	OMIM:600972
HP:0003270	Abdominal distention	10526	IPO8	OMIM:619472
HP:0003270	Abdominal distention	4629	MYH11	OMIM:619351
HP:0003270	Abdominal distention	4629	MYH11	ORPHA:2241
HP:0003270	Abdominal distention	57680	CHD8	OMIM:615032
HP:0003270	Abdominal distention	54914	FOCAD	OMIM:619991
HP:0003270	Abdominal distention	773	CACNA1A	ORPHA:2131
HP:0003270	Abdominal distention	6507	SLC1A3	ORPHA:2131
HP:0003270	Abdominal distention	477	ATP1A2	ORPHA:2131
HP:0003270	Abdominal distention	478	ATP1A3	ORPHA:2131
HP:0003270	Abdominal distention	79770	TXNDC15	OMIM:619879
HP:0003270	Abdominal distention	5589	PRKCSH	OMIM:174050
HP:0003270	Abdominal distention	5589	PRKCSH	ORPHA:2924
HP:0003270	Abdominal distention	6476	SI	ORPHA:35122
HP:0003270	Abdominal distention	229	ALDOB	ORPHA:469
HP:0003270	Abdominal distention	10653	SPINT2	OMIM:270420
HP:0003270	Abdominal distention	3594	IL12RB1	ORPHA:186
HP:0003270	Abdominal distention	23534	TNPO3	ORPHA:186
HP:0003270	Abdominal distention	3592	IL12A	ORPHA:186
HP:0003270	Abdominal distention	6689	SPIB	ORPHA:186
HP:0003270	Abdominal distention	5450	POU2AF1	ORPHA:186
HP:0003270	Abdominal distention	9966	TNFSF15	ORPHA:186
HP:0003270	Abdominal distention	79258	MMEL1	ORPHA:186
HP:0003270	Abdominal distention	3663	IRF5	ORPHA:186
HP:0003270	Abdominal distention	2316	FLNA	OMIM:300048
HP:0003270	Abdominal distention	25802	LMOD1	OMIM:619362
HP:0003270	Abdominal distention	25802	LMOD1	ORPHA:2241
HP:0003270	Abdominal distention	10398	MYL9	OMIM:619365
HP:0003270	Abdominal distention	50485	SMARCAL1	ORPHA:1830
HP:0003270	Abdominal distention	3110	MNX1	ORPHA:1552
HP:0003270	Abdominal distention	3110	MNX1	OMIM:176450
HP:0003270	Abdominal distention	11231	SEC63	ORPHA:2924
HP:0003270	Abdominal distention	4041	LRP5	ORPHA:2924
HP:0003270	Abdominal distention	1811	SLC26A3	OMIM:214700
HP:0003270	Abdominal distention	4638	MYLK	ORPHA:2241
HP:0003270	Abdominal distention	51128	SAR1B	ORPHA:71
HP:0003270	Abdominal distention	540	ATP7B	OMIM:277900
HP:0003270	Abdominal distention	10551	AGR2	OMIM:620233
HP:0003270	Abdominal distention	210	ALAD	ORPHA:100924
HP:0003270	Abdominal distention	79989	IFT56	OMIM:619534
HP:0003270	Abdominal distention	1280	COL2A1	ORPHA:85166
HP:0003270	Abdominal distention	11181	TREH	ORPHA:103909
HP:0003270	Abdominal distention	5297	PI4KA	ORPHA:436252
HP:0003270	Abdominal distention	57217	TTC7A	ORPHA:436252
HP:0003270	Abdominal distention	9321	TRIP11	ORPHA:93299
HP:0003270	Abdominal distention	2492	FSHR	ORPHA:64739
HP:0003270	Abdominal distention	5836	PYGL	ORPHA:369
HP:0003270	Abdominal distention	205327	C2orf69	OMIM:619423
HP:0003270	Abdominal distention	3145	HMBS	ORPHA:79276
HP:0003270	Abdominal distention	4613	MYCN	ORPHA:635
HP:0003270	Abdominal distention	238	ALK	ORPHA:635
HP:0003270	Abdominal distention	389421	LIN28B	ORPHA:635
HP:0003270	Abdominal distention	4004	LMO1	ORPHA:635
HP:0003270	Abdominal distention	57531	HACE1	ORPHA:635
HP:0003270	Abdominal distention	8929	PHOX2B	ORPHA:635
HP:0001543	Gastroschisis	10262	SF3B4	OMIM:154400
HP:0001543	Gastroschisis	1717	DHCR7	ORPHA:818
HP:0001543	Gastroschisis	7473	WNT3	OMIM:273395
HP:0001544	Prominent umbilicus	7994	KAT6A	OMIM:616268
HP:0001544	Prominent umbilicus	4000	LMNA	ORPHA:740
HP:0001544	Prominent umbilicus	10269	ZMPSTE24	ORPHA:740
HP:0001544	Prominent umbilicus	2245	FGD1	OMIM:305400
HP:0001544	Prominent umbilicus	284119	CAVIN1	OMIM:613327
HP:0001544	Prominent umbilicus	26580	BSCL2	OMIM:269700
HP:0001544	Prominent umbilicus	10555	AGPAT2	OMIM:608594
HP:0001545	Anteriorly placed anus	64840	PORCN	OMIM:305600
HP:0001545	Anteriorly placed anus	10128	LRPPRC	OMIM:220111
HP:0001545	Anteriorly placed anus	9791	PTDSS1	OMIM:151050
HP:0001545	Anteriorly placed anus	2072	ERCC4	OMIM:615272
HP:0001545	Anteriorly placed anus	5447	POR	OMIM:201750
HP:0001545	Anteriorly placed anus	5447	POR	ORPHA:95699
HP:0001545	Anteriorly placed anus	6628	SNRPB	OMIM:117650
HP:0001545	Anteriorly placed anus	23512	SUZ12	OMIM:618786
HP:0001545	Anteriorly placed anus	54539	NDUFB11	OMIM:309801
HP:0001545	Anteriorly placed anus	1349	COX7B	OMIM:309801
HP:0001545	Anteriorly placed anus	3052	HCCS	OMIM:309801
HP:0001545	Anteriorly placed anus	145173	B3GLCT	OMIM:261540
HP:0001545	Anteriorly placed anus	222546	RFX6	OMIM:615710
HP:0001545	Anteriorly placed anus	1024	CDK8	OMIM:618748
HP:0001545	Anteriorly placed anus	29957	SLC25A24	OMIM:612289
HP:0001545	Anteriorly placed anus	6091	ROBO1	OMIM:620305
HP:0001545	Anteriorly placed anus	22800	RRAS2	OMIM:618624
HP:0001545	Anteriorly placed anus	158326	FREM1	ORPHA:217266
HP:0001545	Anteriorly placed anus	158326	FREM1	OMIM:248450
HP:0001545	Anteriorly placed anus	158326	FREM1	ORPHA:2717
HP:0001545	Anteriorly placed anus	158326	FREM1	OMIM:608980
HP:0001545	Anteriorly placed anus	8626	TP63	OMIM:604292
HP:0001545	Anteriorly placed anus	9401	RECQL4	OMIM:268400
HP:0001545	Anteriorly placed anus	9401	RECQL4	ORPHA:1225
HP:0001545	Anteriorly placed anus	9401	RECQL4	OMIM:218600
HP:0001545	Anteriorly placed anus	197131	UBR1	OMIM:243800
HP:0001545	Anteriorly placed anus	197131	UBR1	ORPHA:2315
HP:0001545	Anteriorly placed anus	117581	TWIST2	OMIM:200110
HP:0001545	Anteriorly placed anus	8318	CDC45	OMIM:617063
HP:0001545	Anteriorly placed anus	1857	DVL3	OMIM:616894
HP:0001545	Anteriorly placed anus	8942	KYNU	OMIM:617661
HP:0001545	Anteriorly placed anus	28514	DLL1	ORPHA:280195
HP:0001545	Anteriorly placed anus	2253	FGF8	ORPHA:280195
HP:0001545	Anteriorly placed anus	6496	SIX3	ORPHA:280195
HP:0001545	Anteriorly placed anus	7050	TGIF1	ORPHA:280195
HP:0001545	Anteriorly placed anus	4838	NODAL	ORPHA:280195
HP:0001545	Anteriorly placed anus	6469	SHH	ORPHA:280195
HP:0001545	Anteriorly placed anus	7546	ZIC2	ORPHA:280195
HP:0001545	Anteriorly placed anus	6491	STIL	ORPHA:280195
HP:0001545	Anteriorly placed anus	2619	GAS1	ORPHA:280195
HP:0001545	Anteriorly placed anus	84976	DISP1	ORPHA:280195
HP:0001545	Anteriorly placed anus	2736	GLI2	ORPHA:280195
HP:0001545	Anteriorly placed anus	8928	FOXH1	ORPHA:280195
HP:0001545	Anteriorly placed anus	6997	CRIPTO	ORPHA:280195
HP:0001545	Anteriorly placed anus	5727	PTCH1	ORPHA:280195
HP:0001545	Anteriorly placed anus	50937	CDON	ORPHA:280195
HP:0001545	Anteriorly placed anus	2263	FGFR2	ORPHA:1555
HP:0001545	Anteriorly placed anus	2263	FGFR2	OMIM:123790
HP:0001545	Anteriorly placed anus	1654	DDX3X	ORPHA:3338
HP:0001545	Anteriorly placed anus	79633	FAT4	ORPHA:314679
HP:0001545	Anteriorly placed anus	79633	FAT4	OMIM:615546
HP:0001545	Anteriorly placed anus	8642	DCHS1	ORPHA:314679
HP:0001545	Anteriorly placed anus	8642	DCHS1	OMIM:601390
HP:0001545	Anteriorly placed anus	6299	SALL1	ORPHA:857
HP:0001545	Anteriorly placed anus	51339	DACT1	ORPHA:857
HP:0001545	Anteriorly placed anus	9968	MED12	OMIM:305450
HP:0001545	Anteriorly placed anus	55650	PIGV	OMIM:239300
HP:0001545	Anteriorly placed anus	55650	PIGV	ORPHA:247262
HP:0001545	Anteriorly placed anus	4784	NFIX	OMIM:602535
HP:0001545	Anteriorly placed anus	84992	PIGY	ORPHA:247262
HP:0001545	Anteriorly placed anus	84720	PIGO	ORPHA:247262
HP:0001545	Anteriorly placed anus	93210	PGAP3	ORPHA:247262
HP:0001545	Anteriorly placed anus	284098	PIGW	ORPHA:247262
HP:0001545	Anteriorly placed anus	27315	PGAP2	ORPHA:247262
HP:0001545	Anteriorly placed anus	9487	PIGL	ORPHA:247262
HP:0001545	Anteriorly placed anus	4081	MAB21L1	ORPHA:495875
HP:0001545	Anteriorly placed anus	23522	KAT6B	OMIM:606170
HP:0001545	Anteriorly placed anus	1108	CHD4	OMIM:617159
HP:0001545	Anteriorly placed anus	25836	NIPBL	OMIM:122470
HP:0001545	Anteriorly placed anus	157570	ESCO2	ORPHA:2319
HP:0001545	Anteriorly placed anus	157570	ESCO2	OMIM:216100
HP:0001545	Anteriorly placed anus	1009	CDH11	OMIM:211380
HP:0001545	Anteriorly placed anus	1009	CDH11	ORPHA:1299
HP:0001545	Anteriorly placed anus	37	ACADVL	ORPHA:26793
HP:0001545	Anteriorly placed anus	1656	DDX6	OMIM:618653
HP:0001545	Anteriorly placed anus	1822	ATN1	OMIM:618494
HP:0001545	Anteriorly placed anus	1642	DDB1	OMIM:619426
HP:0001545	Anteriorly placed anus	26005	C2CD3	OMIM:615948
HP:0001545	Anteriorly placed anus	26040	SETBP1	ORPHA:798
HP:0001545	Anteriorly placed anus	2737	GLI3	OMIM:146510
HP:0001545	Anteriorly placed anus	8085	KMT2D	OMIM:147920
HP:0001545	Anteriorly placed anus	7403	KDM6A	OMIM:147920
HP:0009023	Abdominal wall muscle weakness	6497	SKI	OMIM:182212
HP:0009023	Abdominal wall muscle weakness	2483	FRG1	OMIM:158900
HP:0009023	Abdominal wall muscle weakness	2483	FRG1	ORPHA:269
HP:0009023	Abdominal wall muscle weakness	23347	SMCHD1	ORPHA:2250
HP:0009023	Abdominal wall muscle weakness	23347	SMCHD1	ORPHA:269
HP:0009023	Abdominal wall muscle weakness	2992	GYG1	ORPHA:263297
HP:0009023	Abdominal wall muscle weakness	1594	CYP27B1	OMIM:264700
HP:0009023	Abdominal wall muscle weakness	3178	HNRNPA1	OMIM:615424
HP:0009023	Abdominal wall muscle weakness	7421	VDR	OMIM:277440
HP:0009023	Abdominal wall muscle weakness	311	ANXA11	OMIM:619733
HP:0009023	Abdominal wall muscle weakness	825	CAPN3	OMIM:618129
HP:0009023	Abdominal wall muscle weakness	9091	PIGQ	OMIM:618548
HP:0009023	Abdominal wall muscle weakness	5728	PTEN	ORPHA:109
HP:0009023	Abdominal wall muscle weakness	5605	MAP2K2	ORPHA:638
HP:0009023	Abdominal wall muscle weakness	4763	NF1	ORPHA:638
HP:0009023	Abdominal wall muscle weakness	22947	DUX4L1	ORPHA:269
HP:0009023	Abdominal wall muscle weakness	1789	DNMT3B	ORPHA:269
HP:0009023	Abdominal wall muscle weakness	100288687	DUX4	ORPHA:269
HP:0009023	Abdominal wall muscle weakness	79158	GNPTAB	ORPHA:423461
HP:0001547	Abnormal rib cage morphology	341640	FREM2	ORPHA:2052
HP:0001547	Abnormal rib cage morphology	80144	FRAS1	ORPHA:2052
HP:0001547	Abnormal rib cage morphology	23426	GRIP1	ORPHA:2052
HP:0001547	Abnormal rib cage morphology	6910	TBX5	ORPHA:392
HP:0001547	Abnormal rib cage morphology	10491	CRTAP	ORPHA:2050
HP:0001547	Abnormal rib cage morphology	9871	SEC24D	ORPHA:2050
HP:0001547	Abnormal rib cage morphology	5034	P4HB	ORPHA:2050
HP:0001547	Abnormal rib cage morphology	2879	GPX4	ORPHA:93317
HP:0001547	Abnormal rib cage morphology	2733	GLE1	ORPHA:1486
HP:0001547	Abnormal rib cage morphology	1131	CHRM3	ORPHA:2970
HP:0001547	Abnormal rib cage morphology	7473	WNT3	ORPHA:3301
HP:0001547	Abnormal rib cage morphology	340419	RSPO2	ORPHA:3301
HP:0001547	Abnormal rib cage morphology	9496	TBX4	ORPHA:3301
HP:0001547	Abnormal rib cage morphology	54361	WNT4	ORPHA:2578
HP:0001547	Abnormal rib cage morphology	6928	HNF1B	ORPHA:2578
HP:0001547	Abnormal rib cage morphology	10312	TCIRG1	ORPHA:667
HP:0001547	Abnormal rib cage morphology	1186	CLCN7	ORPHA:667
HP:0001547	Abnormal rib cage morphology	29887	SNX10	ORPHA:667
HP:0001547	Abnormal rib cage morphology	8600	TNFSF11	ORPHA:667
HP:0001547	Abnormal rib cage morphology	5447	POR	ORPHA:95699
HP:0001547	Abnormal rib cage morphology	1717	DHCR7	ORPHA:818
HP:0001547	Abnormal rib cage morphology	55636	CHD7	ORPHA:138
HP:0001547	Abnormal rib cage morphology	55636	CHD7	OMIM:214800
HP:0001547	Abnormal rib cage morphology	9723	SEMA3E	ORPHA:138
HP:0001547	Abnormal rib cage morphology	4952	OCRL	ORPHA:534
HP:0001547	Abnormal rib cage morphology	4038	LRP4	ORPHA:3258
HP:0001547	Abnormal rib cage morphology	324	APC	ORPHA:3258
HP:0001547	Abnormal rib cage morphology	50964	SOST	ORPHA:1513
HP:0001547	Abnormal rib cage morphology	121340	SP7	ORPHA:1513
HP:0001547	Abnormal rib cage morphology	4041	LRP5	ORPHA:2790
HP:0001547	Abnormal rib cage morphology	6023	RMRP	ORPHA:175
HP:0001547	Abnormal rib cage morphology	134701	RIPPLY2	ORPHA:2311
HP:0001547	Abnormal rib cage morphology	10683	DLL3	ORPHA:2311
HP:0001547	Abnormal rib cage morphology	3955	LFNG	ORPHA:2311
HP:0001547	Abnormal rib cage morphology	84667	HES7	ORPHA:2311
HP:0001547	Abnormal rib cage morphology	145873	MESP2	ORPHA:2311
HP:0001547	Abnormal rib cage morphology	157570	ESCO2	ORPHA:2319
HP:0001547	Abnormal rib cage morphology	81620	CDT1	ORPHA:2554
HP:0001547	Abnormal rib cage morphology	5000	ORC4	ORPHA:2554
HP:0001547	Abnormal rib cage morphology	23594	ORC6	ORPHA:2554
HP:0001547	Abnormal rib cage morphology	8318	CDC45	ORPHA:2554
HP:0001547	Abnormal rib cage morphology	990	CDC6	ORPHA:2554
HP:0001547	Abnormal rib cage morphology	51053	GMNN	ORPHA:2554
HP:0001547	Abnormal rib cage morphology	860	RUNX2	ORPHA:1452
HP:0001547	Abnormal rib cage morphology	1301	COL11A1	ORPHA:2021
HP:0001547	Abnormal rib cage morphology	1302	COL11A2	ORPHA:2021
HP:0001547	Abnormal rib cage morphology	2316	FLNA	ORPHA:90652
HP:0001547	Abnormal rib cage morphology	2316	FLNA	ORPHA:2484
HP:0001547	Abnormal rib cage morphology	9851	KIAA0753	ORPHA:474
HP:0001547	Abnormal rib cage morphology	55112	DYNC2I1	ORPHA:474
HP:0001547	Abnormal rib cage morphology	26160	IFT172	ORPHA:474
HP:0001547	Abnormal rib cage morphology	153241	CEP120	ORPHA:474
HP:0001547	Abnormal rib cage morphology	57560	IFT80	ORPHA:474
HP:0001547	Abnormal rib cage morphology	51626	DYNC2LI1	ORPHA:474
HP:0001547	Abnormal rib cage morphology	79659	DYNC2H1	ORPHA:474
HP:0001547	Abnormal rib cage morphology	9742	IFT140	ORPHA:474
HP:0001547	Abnormal rib cage morphology	57728	WDR19	ORPHA:474
HP:0001547	Abnormal rib cage morphology	89891	DYNC2I2	ORPHA:474
HP:0001547	Abnormal rib cage morphology	79809	TTC21B	ORPHA:474
HP:0001547	Abnormal rib cage morphology	392255	GDF6	OMIM:118100
HP:0001547	Abnormal rib cage morphology	392255	GDF6	ORPHA:2345
HP:0001547	Abnormal rib cage morphology	1836	SLC26A2	ORPHA:628
HP:0001547	Abnormal rib cage morphology	1836	SLC26A2	ORPHA:93298
HP:0001547	Abnormal rib cage morphology	3425	IDUA	ORPHA:93473
HP:0001547	Abnormal rib cage morphology	28514	DLL1	ORPHA:280195
HP:0001547	Abnormal rib cage morphology	2253	FGF8	ORPHA:280195
HP:0001547	Abnormal rib cage morphology	6496	SIX3	ORPHA:280195
HP:0001547	Abnormal rib cage morphology	7050	TGIF1	ORPHA:280195
HP:0001547	Abnormal rib cage morphology	4838	NODAL	ORPHA:280195
HP:0001547	Abnormal rib cage morphology	6469	SHH	ORPHA:280195
HP:0001547	Abnormal rib cage morphology	7546	ZIC2	ORPHA:280195
HP:0001547	Abnormal rib cage morphology	6491	STIL	ORPHA:280195
HP:0001547	Abnormal rib cage morphology	2619	GAS1	ORPHA:280195
HP:0001547	Abnormal rib cage morphology	84976	DISP1	ORPHA:280195
HP:0001547	Abnormal rib cage morphology	2736	GLI2	ORPHA:280195
HP:0001547	Abnormal rib cage morphology	8928	FOXH1	ORPHA:280195
HP:0001547	Abnormal rib cage morphology	6997	CRIPTO	ORPHA:280195
HP:0001547	Abnormal rib cage morphology	5727	PTCH1	ORPHA:280195
HP:0001547	Abnormal rib cage morphology	5727	PTCH1	ORPHA:377
HP:0001547	Abnormal rib cage morphology	5727	PTCH1	ORPHA:77301
HP:0001547	Abnormal rib cage morphology	50937	CDON	ORPHA:280195
HP:0001547	Abnormal rib cage morphology	6911	TBX6	ORPHA:1797
HP:0001547	Abnormal rib cage morphology	182	JAG1	OMIM:118450
HP:0001547	Abnormal rib cage morphology	6299	SALL1	ORPHA:857
HP:0001547	Abnormal rib cage morphology	51339	DACT1	ORPHA:857
HP:0001547	Abnormal rib cage morphology	8643	PTCH2	ORPHA:377
HP:0001547	Abnormal rib cage morphology	51684	SUFU	ORPHA:377
HP:0001547	Abnormal rib cage morphology	2239	GPC4	ORPHA:373
HP:0001547	Abnormal rib cage morphology	2719	GPC3	ORPHA:373
HP:0001547	Abnormal rib cage morphology	55612	FERMT1	ORPHA:2908
HP:0001547	Abnormal rib cage morphology	3664	IRF6	ORPHA:1300
HP:0001547	Abnormal rib cage morphology	3339	HSPG2	ORPHA:800
HP:0001547	Abnormal rib cage morphology	3239	HOXD13	ORPHA:887
HP:0001547	Abnormal rib cage morphology	9573	GDF3	ORPHA:2345
HP:0001547	Abnormal rib cage morphology	4222	MEOX1	ORPHA:2345
HP:0001547	Abnormal rib cage morphology	4089	SMAD4	ORPHA:2588
HP:0001547	Abnormal rib cage morphology	1718	DHCR24	OMIM:602398
HP:0001547	Abnormal rib cage morphology	64840	PORCN	OMIM:305600
HP:0001547	Abnormal rib cage morphology	64840	PORCN	ORPHA:2092
HP:0001547	Abnormal rib cage morphology	579	NKX3-2	OMIM:613330
HP:0001547	Abnormal rib cage morphology	6608	SMO	OMIM:241800
HP:0001547	Abnormal rib cage morphology	267010	RNU12	OMIM:603116
HP:0001547	Abnormal rib cage morphology	4617	MYF5	OMIM:618155
HP:0001547	Abnormal rib cage morphology	112752	IFT43	OMIM:617866
HP:0001547	Abnormal rib cage morphology	5331	PLCB3	OMIM:618961
HP:0001547	Abnormal rib cage morphology	50814	NSDHL	OMIM:308050
HP:0001547	Abnormal rib cage morphology	2146	EZH2	OMIM:277590
HP:0001547	Abnormal rib cage morphology	55764	IFT122	OMIM:218330
HP:0001547	Abnormal rib cage morphology	79087	ALG12	OMIM:607143
HP:0001547	Abnormal rib cage morphology	9896	FIG4	ORPHA:3472
HP:0001547	Abnormal rib cage morphology	55697	VAC14	ORPHA:3472
HP:0001547	Abnormal rib cage morphology	26005	C2CD3	OMIM:615948
HP:0001547	Abnormal rib cage morphology	65250	CPLANE1	OMIM:277170
HP:0001547	Abnormal rib cage morphology	259232	NALCN	OMIM:616266
HP:0001547	Abnormal rib cage morphology	650	BMP2	OMIM:617877
HP:0001547	Abnormal rib cage morphology	100151683	RNU4ATAC	OMIM:210710
HP:0001547	Abnormal rib cage morphology	1861	TOR1A	OMIM:618947
HP:0001547	Abnormal rib cage morphology	55835	CPAP	OMIM:613676
HP:0001547	Abnormal rib cage morphology	93627	TBCK	OMIM:616900
HP:0001547	Abnormal rib cage morphology	93627	TBCK	ORPHA:488632
HP:0001547	Abnormal rib cage morphology	5557	PRIM1	OMIM:620005
HP:0001547	Abnormal rib cage morphology	1788	DNMT3A	OMIM:618724
HP:0001547	Abnormal rib cage morphology	8854	ALDH1A2	OMIM:620025
HP:0001547	Abnormal rib cage morphology	526	ATP6V1B2	ORPHA:79500
HP:0001547	Abnormal rib cage morphology	57465	TBC1D24	ORPHA:79500
HP:0001547	Abnormal rib cage morphology	6223	RPS19	OMIM:105650
HP:0001547	Abnormal rib cage morphology	10236	HNRNPR	OMIM:620073
HP:0001547	Abnormal rib cage morphology	222663	SCUBE3	OMIM:619184
HP:0001547	Abnormal rib cage morphology	26229	B3GAT3	OMIM:245600
HP:0001547	Abnormal rib cage morphology	4927	NUP88	OMIM:618393
HP:0001547	Abnormal rib cage morphology	65267	WNK3	OMIM:309610
HP:0001547	Abnormal rib cage morphology	23114	NFASC	OMIM:618356
HP:0001547	Abnormal rib cage morphology	11041	B4GAT1	OMIM:615287
HP:0001547	Abnormal rib cage morphology	8942	KYNU	OMIM:617661
HP:0001547	Abnormal rib cage morphology	545	ATR	OMIM:210600
HP:0001547	Abnormal rib cage morphology	22995	CEP152	OMIM:613823
HP:0001547	Abnormal rib cage morphology	9131	AIFM1	OMIM:300232
HP:0001547	Abnormal rib cage morphology	5351	PLOD1	OMIM:225400
HP:0001547	Abnormal rib cage morphology	4593	MUSK	OMIM:208150
HP:0001547	Abnormal rib cage morphology	10046	MAMLD1	ORPHA:456328
HP:0001547	Abnormal rib cage morphology	4534	MTM1	ORPHA:456328
HP:0001547	Abnormal rib cage morphology	5530	PPP3CA	OMIM:618265
HP:0001547	Abnormal rib cage morphology	55503	TRPV6	OMIM:618188
HP:0001547	Abnormal rib cage morphology	10013	HDAC6	ORPHA:163966
HP:0001547	Abnormal rib cage morphology	10013	HDAC6	OMIM:300863
HP:0001547	Abnormal rib cage morphology	11128	POLR3A	OMIM:264090
HP:0001547	Abnormal rib cage morphology	274	BIN1	ORPHA:169189
HP:0001547	Abnormal rib cage morphology	64419	MTMR14	ORPHA:169189
HP:0001547	Abnormal rib cage morphology	4618	MYF6	ORPHA:169189
HP:0001547	Abnormal rib cage morphology	1785	DNM2	ORPHA:169189
HP:0001547	Abnormal rib cage morphology	1785	DNM2	OMIM:615368
HP:0001547	Abnormal rib cage morphology	6261	RYR1	ORPHA:169189
HP:0001547	Abnormal rib cage morphology	91179	SCARF2	OMIM:600920
HP:0001547	Abnormal rib cage morphology	5159	PDGFRB	OMIM:601812
HP:0001547	Abnormal rib cage morphology	10651	MTX2	OMIM:619127
HP:0001547	Abnormal rib cage morphology	23233	EXOC6B	OMIM:618395
HP:0001547	Abnormal rib cage morphology	58	ACTA1	ORPHA:171430
HP:0001547	Abnormal rib cage morphology	131377	KLHL40	ORPHA:171430
HP:0001547	Abnormal rib cage morphology	10324	KLHL41	ORPHA:171430
HP:0001547	Abnormal rib cage morphology	56203	LMOD3	ORPHA:171430
HP:0001547	Abnormal rib cage morphology	25914	RTTN	OMIM:614833
HP:0001547	Abnormal rib cage morphology	6662	SOX9	OMIM:114290
HP:0001547	Abnormal rib cage morphology	3911	LAMA5	OMIM:620076
HP:0001547	Abnormal rib cage morphology	64175	P3H1	OMIM:610915
HP:0001547	Abnormal rib cage morphology	6497	SKI	OMIM:182212
HP:0001547	Abnormal rib cage morphology	6905	TBCE	OMIM:244460
HP:0001547	Abnormal rib cage morphology	6905	TBCE	ORPHA:93324
HP:0001547	Abnormal rib cage morphology	11274	USP18	OMIM:617397
HP:0001547	Abnormal rib cage morphology	55603	TENT5A	OMIM:617952
HP:0001547	Abnormal rib cage morphology	4000	LMNA	ORPHA:1662
HP:0001547	Abnormal rib cage morphology	10269	ZMPSTE24	ORPHA:1662
HP:0001547	Abnormal rib cage morphology	8815	BANF1	OMIM:614008
HP:0001547	Abnormal rib cage morphology	54543	TOMM7	OMIM:620601
HP:0001547	Abnormal rib cage morphology	6329	SCN4A	OMIM:620369
HP:0001547	Abnormal rib cage morphology	3977	LIFR	OMIM:601559
HP:0001547	Abnormal rib cage morphology	7471	WNT1	OMIM:615220
HP:0001547	Abnormal rib cage morphology	1134	CHRNA1	OMIM:253290
HP:0001547	Abnormal rib cage morphology	1146	CHRNG	OMIM:253290
HP:0001547	Abnormal rib cage morphology	1144	CHRND	OMIM:253290
HP:0001547	Abnormal rib cage morphology	871	SERPINH1	OMIM:613848
HP:0001547	Abnormal rib cage morphology	63901	FAM111A	OMIM:602361
HP:0001547	Abnormal rib cage morphology	9791	PTDSS1	OMIM:151050
HP:0001547	Abnormal rib cage morphology	7030	TFE3	OMIM:301066
HP:0001547	Abnormal rib cage morphology	153642	ARSK	OMIM:619698
HP:0001547	Abnormal rib cage morphology	7476	WNT7A	OMIM:276820
HP:0001547	Abnormal rib cage morphology	538	ATP7A	OMIM:304150
HP:0001547	Abnormal rib cage morphology	411	ARSB	OMIM:253200
HP:0001547	Abnormal rib cage morphology	5745	PTH1R	OMIM:600002
HP:0001547	Abnormal rib cage morphology	91754	NEK9	OMIM:617022
HP:0001547	Abnormal rib cage morphology	79639	TMEM53	OMIM:619727
HP:0001547	Abnormal rib cage morphology	3557	IL1RN	OMIM:612852
HP:0001547	Abnormal rib cage morphology	26040	SETBP1	OMIM:269150
HP:0001547	Abnormal rib cage morphology	26040	SETBP1	ORPHA:798
HP:0001547	Abnormal rib cage morphology	3764	KCNJ8	ORPHA:1517
HP:0001547	Abnormal rib cage morphology	10060	ABCC9	ORPHA:1517
HP:0001547	Abnormal rib cage morphology	54808	DYM	ORPHA:239
HP:0001547	Abnormal rib cage morphology	81794	ADAMTS10	OMIM:277600
HP:0001547	Abnormal rib cage morphology	7421	VDR	OMIM:277440
HP:0001547	Abnormal rib cage morphology	120227	CYP2R1	OMIM:600081
HP:0001547	Abnormal rib cage morphology	120227	CYP2R1	ORPHA:289157
HP:0001547	Abnormal rib cage morphology	1594	CYP27B1	OMIM:264700
HP:0001547	Abnormal rib cage morphology	1594	CYP27B1	ORPHA:289157
HP:0001547	Abnormal rib cage morphology	142680	SLC34A3	OMIM:241530
HP:0001547	Abnormal rib cage morphology	134218	DNAJC21	ORPHA:811
HP:0001547	Abnormal rib cage morphology	79631	EFL1	ORPHA:811
HP:0001547	Abnormal rib cage morphology	51119	SBDS	ORPHA:811
HP:0001547	Abnormal rib cage morphology	7317	UBA1	ORPHA:1145
HP:0001547	Abnormal rib cage morphology	3549	IHH	OMIM:607778
HP:0001547	Abnormal rib cage morphology	5130	PCYT1A	OMIM:608940
HP:0001547	Abnormal rib cage morphology	5130	PCYT1A	ORPHA:85167
HP:0001547	Abnormal rib cage morphology	132884	EVC2	OMIM:225500
HP:0001547	Abnormal rib cage morphology	2121	EVC	OMIM:225500
HP:0001547	Abnormal rib cage morphology	28981	IFT81	OMIM:617895
HP:0001547	Abnormal rib cage morphology	27152	INTU	OMIM:617925
HP:0001547	Abnormal rib cage morphology	3930	LBR	OMIM:618019
HP:0001547	Abnormal rib cage morphology	255758	DYNLT2B	OMIM:617405
HP:0001547	Abnormal rib cage morphology	2627	GATA6	OMIM:600001
HP:0001547	Abnormal rib cage morphology	2627	GATA6	ORPHA:2255
HP:0001547	Abnormal rib cage morphology	10262	SF3B4	OMIM:154400
HP:0001547	Abnormal rib cage morphology	9939	RBM8A	ORPHA:3320
HP:0001547	Abnormal rib cage morphology	9939	RBM8A	OMIM:274000
HP:0001547	Abnormal rib cage morphology	10992	SF3B2	OMIM:164210
HP:0001547	Abnormal rib cage morphology	55081	IFT57	OMIM:617927
HP:0001547	Abnormal rib cage morphology	54499	TMCO1	ORPHA:1394
HP:0001547	Abnormal rib cage morphology	54499	TMCO1	OMIM:213980
HP:0001547	Abnormal rib cage morphology	5590	PRKCZ	ORPHA:1606
HP:0001547	Abnormal rib cage morphology	2563	GABRD	ORPHA:1606
HP:0001547	Abnormal rib cage morphology	23013	SPEN	ORPHA:1606
HP:0001547	Abnormal rib cage morphology	8510	MMP23B	ORPHA:1606
HP:0001547	Abnormal rib cage morphology	7798	LUZP1	ORPHA:1606
HP:0001547	Abnormal rib cage morphology	10630	PDPN	ORPHA:1606
HP:0001547	Abnormal rib cage morphology	10277	UBE4B	ORPHA:1606
HP:0001547	Abnormal rib cage morphology	8514	KCNAB2	ORPHA:1606
HP:0001547	Abnormal rib cage morphology	473	RERE	ORPHA:1606
HP:0001547	Abnormal rib cage morphology	63976	PRDM16	ORPHA:1606
HP:0001547	Abnormal rib cage morphology	54897	CASZ1	ORPHA:1606
HP:0001547	Abnormal rib cage morphology	2131	EXT1	ORPHA:321
HP:0001547	Abnormal rib cage morphology	2131	EXT1	OMIM:133700
HP:0001547	Abnormal rib cage morphology	2132	EXT2	ORPHA:321
HP:0001547	Abnormal rib cage morphology	2132	EXT2	OMIM:133701
HP:0001547	Abnormal rib cage morphology	84181	CHD6	ORPHA:2108
HP:0001547	Abnormal rib cage morphology	1497	CTNS	OMIM:219800
HP:0001547	Abnormal rib cage morphology	249	ALPL	OMIM:241500
HP:0001547	Abnormal rib cage morphology	249	ALPL	OMIM:241510
HP:0001547	Abnormal rib cage morphology	6569	SLC34A1	ORPHA:157215
HP:0001547	Abnormal rib cage morphology	3423	IDS	ORPHA:217085
HP:0001547	Abnormal rib cage morphology	3423	IDS	ORPHA:217093
HP:0001547	Abnormal rib cage morphology	2720	GLB1	OMIM:230500
HP:0001547	Abnormal rib cage morphology	6448	SGSH	OMIM:252900
HP:0001547	Abnormal rib cage morphology	138050	HGSNAT	OMIM:252930
HP:0001547	Abnormal rib cage morphology	4669	NAGLU	OMIM:252920
HP:0001547	Abnormal rib cage morphology	2799	GNS	OMIM:252940
HP:0001547	Abnormal rib cage morphology	2737	GLI3	ORPHA:672
HP:0001547	Abnormal rib cage morphology	2737	GLI3	OMIM:146510
HP:0001547	Abnormal rib cage morphology	4920	ROR2	OMIM:268310
HP:0001547	Abnormal rib cage morphology	4920	ROR2	ORPHA:1507
HP:0001547	Abnormal rib cage morphology	6651	SON	ORPHA:500150
HP:0001547	Abnormal rib cage morphology	6651	SON	OMIM:617140
HP:0001547	Abnormal rib cage morphology	60	ACTB	ORPHA:64755
HP:0001547	Abnormal rib cage morphology	64359	NXN	ORPHA:1507
HP:0001547	Abnormal rib cage morphology	4621	MYH3	ORPHA:2990
HP:0001547	Abnormal rib cage morphology	9401	RECQL4	OMIM:218600
HP:0001547	Abnormal rib cage morphology	10815	CPLX1	ORPHA:280
HP:0001547	Abnormal rib cage morphology	10815	CPLX1	OMIM:194190
HP:0001547	Abnormal rib cage morphology	54872	PIGG	ORPHA:280
HP:0001547	Abnormal rib cage morphology	7469	NELFA	ORPHA:280
HP:0001547	Abnormal rib cage morphology	1487	CTBP1	ORPHA:280
HP:0001547	Abnormal rib cage morphology	1487	CTBP1	OMIM:194190
HP:0001547	Abnormal rib cage morphology	3954	LETM1	ORPHA:280
HP:0001547	Abnormal rib cage morphology	3954	LETM1	OMIM:194190
HP:0001547	Abnormal rib cage morphology	7468	NSD2	ORPHA:280
HP:0001547	Abnormal rib cage morphology	7468	NSD2	OMIM:194190
HP:0001547	Abnormal rib cage morphology	25970	SH2B1	ORPHA:261197
HP:0001547	Abnormal rib cage morphology	29123	ANKRD11	OMIM:148050
HP:0001547	Abnormal rib cage morphology	6885	MAP3K7	OMIM:157800
HP:0001547	Abnormal rib cage morphology	4953	ODC1	ORPHA:544488
HP:0001547	Abnormal rib cage morphology	53834	FGFRL1	OMIM:194190
HP:0001547	Abnormal rib cage morphology	4990	SIX6	OMIM:206900
HP:0001547	Abnormal rib cage morphology	6657	SOX2	OMIM:206900
HP:0001547	Abnormal rib cage morphology	9382	COG1	OMIM:611209
HP:0001547	Abnormal rib cage morphology	9382	COG1	ORPHA:263508
HP:0001547	Abnormal rib cage morphology	2588	GALNS	OMIM:253000
HP:0001547	Abnormal rib cage morphology	1300	COL10A1	ORPHA:174
HP:0001547	Abnormal rib cage morphology	6729	SRP54	OMIM:260400
HP:0001547	Abnormal rib cage morphology	100	ADA	OMIM:102700
HP:0001547	Abnormal rib cage morphology	755	CFAP410	OMIM:602271
HP:0001547	Abnormal rib cage morphology	23169	SLC35D1	OMIM:269250
HP:0001547	Abnormal rib cage morphology	2261	FGFR3	OMIM:187601
HP:0001547	Abnormal rib cage morphology	2261	FGFR3	OMIM:187600
HP:0001547	Abnormal rib cage morphology	2294	FOXF1	OMIM:265380
HP:0001547	Abnormal rib cage morphology	23476	BRD4	OMIM:620568
HP:0001547	Abnormal rib cage morphology	64132	XYLT2	OMIM:605822
HP:0001547	Abnormal rib cage morphology	10940	POP1	OMIM:617396
HP:0001547	Abnormal rib cage morphology	9469	CHST3	OMIM:143095
HP:0001547	Abnormal rib cage morphology	2517	FUCA1	OMIM:230000
HP:0001547	Abnormal rib cage morphology	673	BRAF	OMIM:115150
HP:0001547	Abnormal rib cage morphology	673	BRAF	OMIM:613707
HP:0001547	Abnormal rib cage morphology	673	BRAF	OMIM:613706
HP:0001547	Abnormal rib cage morphology	673	BRAF	OMIM:163950
HP:0001547	Abnormal rib cage morphology	55969	RAB5IF	OMIM:616994
HP:0001547	Abnormal rib cage morphology	6399	TRAPPC2	OMIM:313400
HP:0001547	Abnormal rib cage morphology	10847	SRCAP	ORPHA:2044
HP:0001547	Abnormal rib cage morphology	5604	MAP2K1	OMIM:163950
HP:0001547	Abnormal rib cage morphology	3417	IDH1	ORPHA:99646
HP:0001547	Abnormal rib cage morphology	388015	RTL1	ORPHA:96334
HP:0001547	Abnormal rib cage morphology	8788	DLK1	ORPHA:96334
HP:0001547	Abnormal rib cage morphology	55384	MEG3	ORPHA:96334
HP:0001547	Abnormal rib cage morphology	415	ARSL	ORPHA:79345
HP:0001547	Abnormal rib cage morphology	9241	NOG	OMIM:186500
HP:0001547	Abnormal rib cage morphology	5593	PRKG2	OMIM:619636
HP:0001547	Abnormal rib cage morphology	9897	WASHC5	OMIM:220210
HP:0001547	Abnormal rib cage morphology	9897	WASHC5	ORPHA:7
HP:0001547	Abnormal rib cage morphology	10606	PAICS	OMIM:619859
HP:0001547	Abnormal rib cage morphology	81839	VANGL1	ORPHA:3027
HP:0001547	Abnormal rib cage morphology	80199	FUZ	ORPHA:3027
HP:0001547	Abnormal rib cage morphology	28952	CCDC22	ORPHA:7
HP:0001547	Abnormal rib cage morphology	57020	VPS35L	ORPHA:7
HP:0001547	Abnormal rib cage morphology	56896	DPYSL5	ORPHA:7
HP:0001547	Abnormal rib cage morphology	2313	FLI1	ORPHA:2308
HP:0001547	Abnormal rib cage morphology	29980	DONSON	OMIM:251230
HP:0001547	Abnormal rib cage morphology	4148	MATN3	OMIM:608728
HP:0001547	Abnormal rib cage morphology	633	BGN	OMIM:300106
HP:0001547	Abnormal rib cage morphology	57190	SELENON	OMIM:602771
HP:0001547	Abnormal rib cage morphology	59341	TRPV4	OMIM:184252
HP:0001547	Abnormal rib cage morphology	1947	EFNB1	OMIM:304110
HP:0001547	Abnormal rib cage morphology	4998	ORC1	OMIM:224690
HP:0001547	Abnormal rib cage morphology	4125	MAN2B1	OMIM:248500
HP:0001547	Abnormal rib cage morphology	367	AR	OMIM:312300
HP:0001547	Abnormal rib cage morphology	4703	NEB	OMIM:256030
HP:0001547	Abnormal rib cage morphology	4247	MGAT2	OMIM:212066
HP:0001547	Abnormal rib cage morphology	3480	IGF1R	OMIM:270450
HP:0001547	Abnormal rib cage morphology	79158	GNPTAB	OMIM:252500
HP:0001547	Abnormal rib cage morphology	126792	B3GALT6	OMIM:271640
HP:0001547	Abnormal rib cage morphology	65082	VPS33A	ORPHA:505248
HP:0001547	Abnormal rib cage morphology	54	ACP5	OMIM:607944
HP:0001547	Abnormal rib cage morphology	1305	COL13A1	OMIM:616720
HP:0001547	Abnormal rib cage morphology	4982	TNFRSF11B	OMIM:239000
HP:0001547	Abnormal rib cage morphology	9451	EIF2AK3	OMIM:226980
HP:0001547	Abnormal rib cage morphology	83452	RAB33B	OMIM:615222
HP:0001547	Abnormal rib cage morphology	22858	CILK1	OMIM:612651
HP:0001547	Abnormal rib cage morphology	176	ACAN	ORPHA:171866
HP:0001547	Abnormal rib cage morphology	176	ACAN	OMIM:612813
HP:0001547	Abnormal rib cage morphology	3265	HRAS	OMIM:218040
HP:0001547	Abnormal rib cage morphology	8925	HERC1	ORPHA:457359
HP:0001547	Abnormal rib cage morphology	9578	CDC42BPB	OMIM:619841
HP:0001547	Abnormal rib cage morphology	23184	MESD	OMIM:618644
HP:0001547	Abnormal rib cage morphology	84168	ANTXR1	ORPHA:2067
HP:0001547	Abnormal rib cage morphology	139285	AMER1	ORPHA:2780
HP:0001547	Abnormal rib cage morphology	26834	RNU4-2	OMIM:620851
HP:0001547	Abnormal rib cage morphology	207	AKT1	ORPHA:744
HP:0001547	Abnormal rib cage morphology	3481	IGF2	ORPHA:2128
HP:0001547	Abnormal rib cage morphology	10984	KCNQ1OT1	ORPHA:2128
HP:0001547	Abnormal rib cage morphology	283120	H19	ORPHA:2128
HP:0001547	Abnormal rib cage morphology	4921	DDR2	OMIM:271665
HP:0001547	Abnormal rib cage morphology	9321	TRIP11	OMIM:200600
HP:0001547	Abnormal rib cage morphology	65992	DDRGK1	OMIM:602557
HP:0001547	Abnormal rib cage morphology	6628	SNRPB	OMIM:117650
HP:0001547	Abnormal rib cage morphology	6628	SNRPB	ORPHA:1393
HP:0001547	Abnormal rib cage morphology	11014	KDELR2	OMIM:619131
HP:0001547	Abnormal rib cage morphology	79848	CSPP1	OMIM:615636
HP:0001547	Abnormal rib cage morphology	79848	CSPP1	ORPHA:397715
HP:0001547	Abnormal rib cage morphology	1277	COL1A1	OMIM:166210
HP:0001547	Abnormal rib cage morphology	1278	COL1A2	OMIM:166210
HP:0001547	Abnormal rib cage morphology	55733	HHAT	OMIM:600092
HP:0001547	Abnormal rib cage morphology	2263	FGFR2	ORPHA:313855
HP:0001547	Abnormal rib cage morphology	2263	FGFR2	OMIM:614592
HP:0001547	Abnormal rib cage morphology	64131	XYLT1	ORPHA:1425
HP:0001547	Abnormal rib cage morphology	124583	CANT1	ORPHA:1425
HP:0001547	Abnormal rib cage morphology	55790	CSGALNACT1	ORPHA:1425
HP:0001547	Abnormal rib cage morphology	2317	FLNB	OMIM:108720
HP:0001547	Abnormal rib cage morphology	1280	COL2A1	ORPHA:485
HP:0001547	Abnormal rib cage morphology	9786	KIAA0586	ORPHA:397715
HP:0001547	Abnormal rib cage morphology	3636	INPPL1	OMIM:258480
HP:0001547	Abnormal rib cage morphology	6913	TBX15	OMIM:260660
HP:0001547	Abnormal rib cage morphology	1436	CSF1R	OMIM:618476
HP:0001547	Abnormal rib cage morphology	89910	UBE3B	OMIM:244450
HP:0001547	Abnormal rib cage morphology	51025	PAM16	OMIM:613320
HP:0001547	Abnormal rib cage morphology	5081	PAX7	OMIM:618578
HP:0001547	Abnormal rib cage morphology	5826	ABCD4	OMIM:614857
HP:0001547	Abnormal rib cage morphology	5189	PEX1	OMIM:214100
HP:0001547	Abnormal rib cage morphology	168667	BMPER	OMIM:608022
HP:0001547	Abnormal rib cage morphology	8517	IKBKG	ORPHA:464
HP:0001547	Abnormal rib cage morphology	8517	IKBKG	OMIM:308300
HP:0001547	Abnormal rib cage morphology	4094	MAF	ORPHA:1272
HP:0001547	Abnormal rib cage morphology	5077	PAX3	OMIM:193500
HP:0001547	Abnormal rib cage morphology	3899	AFF3	OMIM:619297
HP:0001547	Abnormal rib cage morphology	10220	GDF11	OMIM:619122
HP:0001547	Abnormal rib cage morphology	25836	NIPBL	OMIM:122470
HP:0001547	Abnormal rib cage morphology	7046	TGFBR1	OMIM:609192
HP:0001547	Abnormal rib cage morphology	286	ANK1	ORPHA:251066
HP:0001547	Abnormal rib cage morphology	6231	RPS26	OMIM:613309
HP:0001547	Abnormal rib cage morphology	4322	MMP13	OMIM:602111
HP:0001547	Abnormal rib cage morphology	10682	EBP	ORPHA:35173
HP:0001547	Abnormal rib cage morphology	202018	TAPT1	OMIM:616897
HP:0001547	Abnormal rib cage morphology	8792	TNFRSF11A	OMIM:612301
HP:0001547	Abnormal rib cage morphology	90993	CREB3L1	OMIM:616229
HP:0001547	Abnormal rib cage morphology	5251	PHEX	ORPHA:89936
HP:0001547	Abnormal rib cage morphology	5479	PPIB	OMIM:259440
HP:0001547	Abnormal rib cage morphology	760	CA2	ORPHA:2785
HP:0001547	Abnormal rib cage morphology	57539	WDR35	OMIM:614091
HP:0001547	Abnormal rib cage morphology	4750	NEK1	OMIM:263520
HP:0001547	Abnormal rib cage morphology	4256	MGP	OMIM:245150
HP:0001547	Abnormal rib cage morphology	10861	SLC26A1	OMIM:620372
HP:0001547	Abnormal rib cage morphology	4010	LMX1B	OMIM:161200
HP:0001547	Abnormal rib cage morphology	22827	PUF60	ORPHA:508498
HP:0001547	Abnormal rib cage morphology	55780	ERMARD	ORPHA:75857
HP:0001547	Abnormal rib cage morphology	4297	KMT2A	ORPHA:319182
HP:0001547	Abnormal rib cage morphology	1311	COMP	OMIM:177170
HP:0001547	Abnormal rib cage morphology	2626	GATA4	ORPHA:251071
HP:0001547	Abnormal rib cage morphology	2990	GUSB	ORPHA:584
HP:0001547	Abnormal rib cage morphology	27238	GPKOW	ORPHA:2570
HP:0001547	Abnormal rib cage morphology	5594	MAPK1	OMIM:619087
HP:0001547	Abnormal rib cage morphology	9820	CUL7	ORPHA:2616
HP:0001547	Abnormal rib cage morphology	23363	OBSL1	ORPHA:2616
HP:0001547	Abnormal rib cage morphology	83987	CCDC8	ORPHA:2616
HP:0001547	Abnormal rib cage morphology	649	BMP1	OMIM:614856
HP:0001547	Abnormal rib cage morphology	22800	RRAS2	ORPHA:648
HP:0001547	Abnormal rib cage morphology	867	CBL	ORPHA:648
HP:0001547	Abnormal rib cage morphology	8216	LZTR1	ORPHA:648
HP:0001547	Abnormal rib cage morphology	6016	RIT1	ORPHA:648
HP:0001547	Abnormal rib cage morphology	6237	RRAS	ORPHA:648
HP:0001547	Abnormal rib cage morphology	5894	RAF1	ORPHA:648
HP:0001547	Abnormal rib cage morphology	22808	MRAS	ORPHA:648
HP:0001547	Abnormal rib cage morphology	3845	KRAS	ORPHA:648
HP:0001547	Abnormal rib cage morphology	200734	SPRED2	ORPHA:648
HP:0001547	Abnormal rib cage morphology	4893	NRAS	ORPHA:648
HP:0001547	Abnormal rib cage morphology	6654	SOS1	ORPHA:648
HP:0001547	Abnormal rib cage morphology	6655	SOS2	ORPHA:648
HP:0001547	Abnormal rib cage morphology	5781	PTPN11	ORPHA:648
HP:0001547	Abnormal rib cage morphology	5922	RASA2	ORPHA:648
HP:0001547	Abnormal rib cage morphology	2200	FBN1	ORPHA:284979
HP:0001547	Abnormal rib cage morphology	7994	KAT6A	OMIM:616268
HP:0001547	Abnormal rib cage morphology	7703	PCGF2	OMIM:618371
HP:0001547	Abnormal rib cage morphology	5566	PRKACA	OMIM:619142
HP:0001547	Abnormal rib cage morphology	5567	PRKACB	OMIM:619143
HP:0001547	Abnormal rib cage morphology	8260	NAA10	ORPHA:568
HP:0001547	Abnormal rib cage morphology	54880	BCOR	ORPHA:568
HP:0001548	Overgrowth	50964	SOST	OMIM:269500
HP:0001548	Overgrowth	5290	PIK3CA	OMIM:612918
HP:0001548	Overgrowth	5290	PIK3CA	ORPHA:276280
HP:0001548	Overgrowth	5290	PIK3CA	OMIM:602501
HP:0001548	Overgrowth	5290	PIK3CA	ORPHA:168984
HP:0001548	Overgrowth	5290	PIK3CA	ORPHA:314662
HP:0001548	Overgrowth	388015	RTL1	ORPHA:254534
HP:0001548	Overgrowth	388015	RTL1	ORPHA:96334
HP:0001548	Overgrowth	8788	DLK1	ORPHA:254534
HP:0001548	Overgrowth	8788	DLK1	ORPHA:96334
HP:0001548	Overgrowth	55384	MEG3	ORPHA:254534
HP:0001548	Overgrowth	55384	MEG3	ORPHA:96334
HP:0001548	Overgrowth	23512	SUZ12	OMIM:618786
HP:0001548	Overgrowth	5728	PTEN	OMIM:605309
HP:0001548	Overgrowth	84282	RNF135	ORPHA:137634
HP:0001548	Overgrowth	1788	DNMT3A	OMIM:615879
HP:0001548	Overgrowth	4893	NRAS	OMIM:163200
HP:0001548	Overgrowth	3845	KRAS	OMIM:163200
HP:0001548	Overgrowth	3265	HRAS	OMIM:163200
HP:0001548	Overgrowth	3265	HRAS	OMIM:218040
HP:0001548	Overgrowth	207	AKT1	ORPHA:744
HP:0001548	Overgrowth	3190	HNRNPK	ORPHA:453504
HP:0001548	Overgrowth	3190	HNRNPK	ORPHA:352665
HP:0001548	Overgrowth	2099	ESR1	ORPHA:785
HP:0001548	Overgrowth	23405	DICER1	OMIM:618272
HP:0001548	Overgrowth	79813	EHMT1	ORPHA:261652
HP:0001548	Overgrowth	58508	KMT2C	ORPHA:261652
HP:0001548	Overgrowth	3021	H3-3B	OMIM:619721
HP:0001548	Overgrowth	9158	FIBP	OMIM:617107
HP:0001548	Overgrowth	4784	NFIX	OMIM:614753
HP:0001548	Overgrowth	30008	EFEMP2	OMIM:614437
HP:0001548	Overgrowth	29072	SETD2	OMIM:620157
HP:0001548	Overgrowth	29072	SETD2	OMIM:620155
HP:0001548	Overgrowth	29072	SETD2	OMIM:616831
HP:0001548	Overgrowth	5296	PIK3R2	OMIM:603387
HP:0001548	Overgrowth	4763	NF1	OMIM:162200
HP:0001548	Overgrowth	8925	HERC1	ORPHA:457359
HP:0001548	Overgrowth	64324	NSD1	OMIM:117550
HP:0001548	Overgrowth	3339	HSPG2	OMIM:224410
HP:0001548	Overgrowth	54757	FAM20A	OMIM:204690
HP:0001548	Overgrowth	1028	CDKN1C	OMIM:130650
HP:0001548	Overgrowth	3481	IGF2	OMIM:130650
HP:0001548	Overgrowth	3784	KCNQ1	OMIM:130650
HP:0001548	Overgrowth	10984	KCNQ1OT1	OMIM:130650
HP:0001548	Overgrowth	815	CAMK2A	OMIM:617798
HP:0001548	Overgrowth	23229	ARHGEF9	OMIM:300607
HP:0001548	Overgrowth	2146	EZH2	OMIM:277590
HP:0001548	Overgrowth	10516	FBLN5	OMIM:219100
HP:0001548	Overgrowth	139886	SPIN4	OMIM:301114
HP:0001548	Overgrowth	8726	EED	OMIM:617561
HP:0001548	Overgrowth	5159	PDGFRB	OMIM:616592
HP:0001548	Overgrowth	5277	PIGA	OMIM:300868
HP:0001548	Overgrowth	5277	PIGA	OMIM:301072
HP:0001548	Overgrowth	7043	TGFB3	OMIM:615582
HP:0001548	Overgrowth	83550	GPR101	OMIM:300942
HP:0001548	Overgrowth	2719	GPC3	OMIM:312870
HP:0001548	Overgrowth	2239	GPC4	OMIM:312870
HP:0001548	Overgrowth	283450	HECTD4	OMIM:620250
HP:0001549	Abnormal ileum morphology	2294	FOXF1	OMIM:265380
HP:0001549	Abnormal ileum morphology	404672	GTF2H5	OMIM:616395
HP:0001549	Abnormal ileum morphology	4613	MYCN	OMIM:620748
HP:0001549	Abnormal ileum morphology	222546	RFX6	OMIM:615710
HP:0001549	Abnormal ileum morphology	4087	SMAD2	OMIM:619657
HP:0001549	Abnormal ileum morphology	2719	GPC3	OMIM:312870
HP:0001549	Abnormal ileum morphology	2239	GPC4	OMIM:312870
HP:0001549	Abnormal ileum morphology	2260	FGFR1	OMIM:190440
HP:0001549	Abnormal ileum morphology	672	BRCA1	ORPHA:84
HP:0001549	Abnormal ileum morphology	10459	MAD2L2	ORPHA:84
HP:0001549	Abnormal ileum morphology	7516	XRCC2	ORPHA:84
HP:0001549	Abnormal ileum morphology	29089	UBE2T	ORPHA:84
HP:0001549	Abnormal ileum morphology	675	BRCA2	ORPHA:84
HP:0001549	Abnormal ileum morphology	55120	FANCL	ORPHA:84
HP:0001549	Abnormal ileum morphology	2177	FANCD2	ORPHA:84
HP:0001549	Abnormal ileum morphology	2175	FANCA	ORPHA:84
HP:0001549	Abnormal ileum morphology	2187	FANCB	ORPHA:84
HP:0001549	Abnormal ileum morphology	2176	FANCC	ORPHA:84
HP:0001549	Abnormal ileum morphology	2178	FANCE	ORPHA:84
HP:0001549	Abnormal ileum morphology	2188	FANCF	ORPHA:84
HP:0001549	Abnormal ileum morphology	2189	FANCG	ORPHA:84
HP:0001549	Abnormal ileum morphology	5888	RAD51	ORPHA:84
HP:0001549	Abnormal ileum morphology	5889	RAD51C	ORPHA:84
HP:0001549	Abnormal ileum morphology	55159	RFWD3	ORPHA:84
HP:0001549	Abnormal ileum morphology	83990	BRIP1	ORPHA:84
HP:0001549	Abnormal ileum morphology	57697	FANCM	ORPHA:84
HP:0001549	Abnormal ileum morphology	79728	PALB2	ORPHA:84
HP:0001549	Abnormal ileum morphology	84464	SLX4	ORPHA:84
HP:0001549	Abnormal ileum morphology	2072	ERCC4	ORPHA:84
HP:0001549	Abnormal ileum morphology	55215	FANCI	ORPHA:84
HP:0001549	Abnormal ileum morphology	9939	RBM8A	OMIM:274000
HP:0001549	Abnormal ileum morphology	8241	RBM10	OMIM:311900
HP:0001549	Abnormal ileum morphology	5297	PI4KA	ORPHA:436252
HP:0001549	Abnormal ileum morphology	57217	TTC7A	ORPHA:436252
HP:0001549	Abnormal ileum morphology	331	XIAP	ORPHA:538934
HP:0001549	Abnormal ileum morphology	4659	PPP1R12A	OMIM:618820
HP:0001549	Abnormal ileum morphology	4629	MYH11	OMIM:619351
HP:0001549	Abnormal ileum morphology	29925	GMPPB	OMIM:615351
HP:0001549	Abnormal ileum morphology	7128	TNFAIP3	OMIM:616744
HP:0001549	Abnormal ileum morphology	6550	SLC9A3	OMIM:616868
HP:0001549	Abnormal ileum morphology	139818	DOCK11	OMIM:301109
HP:0001549	Abnormal ileum morphology	22900	CARD8	OMIM:619079
HP:0001549	Abnormal ileum morphology	5970	RELA	OMIM:618287
HP:0001549	Abnormal ileum morphology	129563	DIS3L2	OMIM:267000
HP:0007984	Electronegative electroretinogram	345193	LRIT3	OMIM:615058
HP:0007984	Electronegative electroretinogram	345193	LRIT3	ORPHA:215
HP:0007984	Electronegative electroretinogram	6011	GRK1	ORPHA:75382
HP:0007984	Electronegative electroretinogram	6011	GRK1	ORPHA:215
HP:0007984	Electronegative electroretinogram	6295	SAG	ORPHA:75382
HP:0007984	Electronegative electroretinogram	6295	SAG	ORPHA:215
HP:0007984	Electronegative electroretinogram	6247	RS1	ORPHA:792
HP:0007984	Electronegative electroretinogram	6247	RS1	OMIM:312700
HP:0007984	Electronegative electroretinogram	93589	CACNA2D4	OMIM:610478
HP:0007984	Electronegative electroretinogram	93589	CACNA2D4	ORPHA:215
HP:0007984	Electronegative electroretinogram	24	ABCA4	OMIM:604116
HP:0007984	Electronegative electroretinogram	6017	RLBP1	ORPHA:85128
HP:0007984	Electronegative electroretinogram	57010	CABP4	OMIM:610427
HP:0007984	Electronegative electroretinogram	57010	CABP4	ORPHA:215
HP:0007984	Electronegative electroretinogram	4308	TRPM1	ORPHA:215
HP:0007984	Electronegative electroretinogram	2916	GRM6	ORPHA:215
HP:0007984	Electronegative electroretinogram	5158	PDE6B	ORPHA:215
HP:0007984	Electronegative electroretinogram	440435	GPR179	ORPHA:215
HP:0007984	Electronegative electroretinogram	778	CACNA1F	ORPHA:215
HP:0007984	Electronegative electroretinogram	778	CACNA1F	OMIM:300071
HP:0007984	Electronegative electroretinogram	6010	RHO	ORPHA:215
HP:0007984	Electronegative electroretinogram	9187	SLC24A1	ORPHA:215
HP:0007984	Electronegative electroretinogram	2784	GNB3	ORPHA:215
HP:0007984	Electronegative electroretinogram	2779	GNAT1	ORPHA:215
HP:0007984	Electronegative electroretinogram	60506	NYX	ORPHA:215
HP:0007985	Retinal arteriolar occlusion	2161	F12	ORPHA:330
HP:0007985	Retinal arteriolar occlusion	7439	BEST1	OMIM:193220
HP:0007987	Progressive visual field defects	9129	PRPF3	OMIM:601414
HP:0007987	Progressive visual field defects	5961	PRPH2	ORPHA:52427
HP:0007987	Progressive visual field defects	6017	RLBP1	ORPHA:52427
HP:0007987	Progressive visual field defects	6010	RHO	ORPHA:52427
HP:0007987	Progressive visual field defects	5959	RDH5	ORPHA:52427
HP:0007987	Progressive visual field defects	1499	CTNNB1	ORPHA:54595
HP:0007987	Progressive visual field defects	673	BRAF	ORPHA:54595
HP:0007988	Macular hypopigmentation	103	ADAR	ORPHA:41
HP:0007988	Macular hypopigmentation	80173	IFT74	OMIM:617119
HP:0007988	Macular hypopigmentation	64802	NMNAT1	OMIM:608553
HP:0007988	Macular hypopigmentation	4157	MC1R	ORPHA:79432
HP:0007988	Macular hypopigmentation	4948	OCA2	ORPHA:79432
HP:0007968	Remnants of the hyaloid vascular system	220202	ATOH7	OMIM:221900
HP:0007968	Remnants of the hyaloid vascular system	220202	ATOH7	ORPHA:91495
HP:0007968	Remnants of the hyaloid vascular system	1301	COL11A1	OMIM:604841
HP:0007968	Remnants of the hyaloid vascular system	54880	BCOR	OMIM:300166
HP:0007968	Remnants of the hyaloid vascular system	57479	PRR12	OMIM:619539
HP:0007968	Remnants of the hyaloid vascular system	729920	CRPPA	OMIM:614643
HP:0007968	Remnants of the hyaloid vascular system	5080	PAX6	OMIM:165550
HP:0007968	Remnants of the hyaloid vascular system	5080	PAX6	OMIM:120200
HP:0007968	Remnants of the hyaloid vascular system	4771	NF2	ORPHA:637
HP:0007968	Remnants of the hyaloid vascular system	4693	NDP	ORPHA:91495
HP:0007968	Remnants of the hyaloid vascular system	4693	NDP	ORPHA:649
HP:0007968	Remnants of the hyaloid vascular system	8322	FZD4	ORPHA:91495
HP:0007968	Remnants of the hyaloid vascular system	3913	LAMB2	OMIM:609049
HP:0007968	Remnants of the hyaloid vascular system	57688	ZSWIM6	OMIM:603671
HP:0007968	Remnants of the hyaloid vascular system	6496	SIX3	OMIM:157170
HP:0007968	Remnants of the hyaloid vascular system	23137	SMC5	OMIM:620185
HP:0007970	Congenital ptosis	3479	IGF1	ORPHA:73272
HP:0007970	Congenital ptosis	1763	DNA2	ORPHA:352470
HP:0007970	Congenital ptosis	79184	BRCC3	ORPHA:280679
HP:0007970	Congenital ptosis	79776	ZFHX4	OMIM:178300
HP:0007970	Congenital ptosis	7204	TRIO	ORPHA:476126
HP:0007971	Lamellar cataract	3299	HSF4	OMIM:116800
HP:0007971	Lamellar cataract	1413	CRYBA4	OMIM:610425
HP:0007971	Lamellar cataract	1427	CRYGS	OMIM:116100
HP:0007971	Lamellar cataract	1419	CRYGB	OMIM:615188
HP:0007971	Lamellar cataract	631	BFSP1	OMIM:611391
HP:0007971	Lamellar cataract	4284	MIP	OMIM:615274
HP:0007975	Hypometric horizontal saccades	2629	GBA1	OMIM:231005
HP:0007976	Cerulean cataract	84816	RTN4IP1	OMIM:616732
HP:0007976	Cerulean cataract	4094	MAF	OMIM:610202
HP:0007976	Cerulean cataract	1415	CRYBB2	OMIM:601547
HP:0007976	Cerulean cataract	80207	OPA3	ORPHA:67036
HP:0002023	Anal atresia	2737	GLI3	ORPHA:672
HP:0002023	Anal atresia	2737	GLI3	OMIM:146510
HP:0002023	Anal atresia	2737	GLI3	OMIM:175700
HP:0002023	Anal atresia	2737	GLI3	OMIM:174200
HP:0002023	Anal atresia	9361	LONP1	OMIM:600373
HP:0002023	Anal atresia	2294	FOXF1	OMIM:265380
HP:0002023	Anal atresia	2294	FOXF1	ORPHA:210122
HP:0002023	Anal atresia	341640	FREM2	ORPHA:2052
HP:0002023	Anal atresia	341640	FREM2	OMIM:617666
HP:0002023	Anal atresia	80144	FRAS1	ORPHA:2052
HP:0002023	Anal atresia	23426	GRIP1	ORPHA:2052
HP:0002023	Anal atresia	4683	NBN	OMIM:251260
HP:0002023	Anal atresia	4683	NBN	ORPHA:647
HP:0002023	Anal atresia	117581	TWIST2	OMIM:227260
HP:0002023	Anal atresia	117581	TWIST2	ORPHA:1807
HP:0002023	Anal atresia	23556	PIGN	ORPHA:2059
HP:0002023	Anal atresia	23556	PIGN	ORPHA:280633
HP:0002023	Anal atresia	23556	PIGN	OMIM:614080
HP:0002023	Anal atresia	8195	MKKS	OMIM:236700
HP:0002023	Anal atresia	8195	MKKS	ORPHA:2473
HP:0002023	Anal atresia	145173	B3GLCT	ORPHA:709
HP:0002023	Anal atresia	6650	CAPN15	OMIM:619318
HP:0002023	Anal atresia	253738	EBF3	ORPHA:96148
HP:0002023	Anal atresia	1131	CHRM3	ORPHA:2970
HP:0002023	Anal atresia	1131	CHRM3	OMIM:100100
HP:0002023	Anal atresia	57167	SALL4	OMIM:607323
HP:0002023	Anal atresia	57167	SALL4	ORPHA:2307
HP:0002023	Anal atresia	57167	SALL4	OMIM:147750
HP:0002023	Anal atresia	7473	WNT3	ORPHA:3301
HP:0002023	Anal atresia	7473	WNT3	OMIM:273395
HP:0002023	Anal atresia	340419	RSPO2	ORPHA:3301
HP:0002023	Anal atresia	9496	TBX4	ORPHA:3301
HP:0002023	Anal atresia	81839	VANGL1	ORPHA:3027
HP:0002023	Anal atresia	80199	FUZ	ORPHA:3027
HP:0002023	Anal atresia	10084	PQBP1	ORPHA:93950
HP:0002023	Anal atresia	10084	PQBP1	OMIM:309500
HP:0002023	Anal atresia	197131	UBR1	OMIM:243800
HP:0002023	Anal atresia	197131	UBR1	ORPHA:2315
HP:0002023	Anal atresia	6299	SALL1	OMIM:107480
HP:0002023	Anal atresia	6299	SALL1	ORPHA:857
HP:0002023	Anal atresia	267010	RNU12	OMIM:603116
HP:0002023	Anal atresia	267010	RNU12	ORPHA:85199
HP:0002023	Anal atresia	55112	DYNC2I1	ORPHA:93271
HP:0002023	Anal atresia	57560	IFT80	ORPHA:93271
HP:0002023	Anal atresia	57539	WDR35	ORPHA:93271
HP:0002023	Anal atresia	79659	DYNC2H1	ORPHA:93271
HP:0002023	Anal atresia	79659	DYNC2H1	OMIM:613091
HP:0002023	Anal atresia	89891	DYNC2I2	ORPHA:93271
HP:0002023	Anal atresia	4281	MID1	OMIM:300000
HP:0002023	Anal atresia	4281	MID1	ORPHA:2745
HP:0002023	Anal atresia	374654	KIF7	OMIM:200990
HP:0002023	Anal atresia	3313	HSPA9	OMIM:616854
HP:0002023	Anal atresia	2137	EXTL3	OMIM:617425
HP:0002023	Anal atresia	999	CDH1	OMIM:119580
HP:0002023	Anal atresia	999	CDH1	ORPHA:1997
HP:0002023	Anal atresia	29954	POMT2	OMIM:236670
HP:0002023	Anal atresia	79147	FKRP	OMIM:236670
HP:0002023	Anal atresia	2218	FKTN	OMIM:236670
HP:0002023	Anal atresia	10585	POMT1	OMIM:236670
HP:0002023	Anal atresia	9215	LARGE1	OMIM:236670
HP:0002023	Anal atresia	2187	FANCB	ORPHA:3412
HP:0002023	Anal atresia	2187	FANCB	ORPHA:84
HP:0002023	Anal atresia	2187	FANCB	OMIM:314390
HP:0002023	Anal atresia	1500	CTNND1	ORPHA:1997
HP:0002023	Anal atresia	6926	TBX3	ORPHA:3138
HP:0002023	Anal atresia	6926	TBX3	OMIM:181450
HP:0002023	Anal atresia	7547	ZIC3	OMIM:306955
HP:0002023	Anal atresia	7547	ZIC3	OMIM:314390
HP:0002023	Anal atresia	4072	EPCAM	ORPHA:92050
HP:0002023	Anal atresia	105371045	PERCC1	ORPHA:92050
HP:0002023	Anal atresia	2263	FGFR2	ORPHA:93260
HP:0002023	Anal atresia	2263	FGFR2	ORPHA:93259
HP:0002023	Anal atresia	83871	RAB34	OMIM:620718
HP:0002023	Anal atresia	9401	RECQL4	ORPHA:1225
HP:0002023	Anal atresia	9401	RECQL4	OMIM:218600
HP:0002023	Anal atresia	23522	KAT6B	OMIM:606170
HP:0002023	Anal atresia	9968	MED12	ORPHA:93932
HP:0002023	Anal atresia	9968	MED12	OMIM:305450
HP:0002023	Anal atresia	5308	PITX2	OMIM:180500
HP:0002023	Anal atresia	672	BRCA1	ORPHA:84
HP:0002023	Anal atresia	10459	MAD2L2	ORPHA:84
HP:0002023	Anal atresia	7516	XRCC2	ORPHA:84
HP:0002023	Anal atresia	29089	UBE2T	ORPHA:84
HP:0002023	Anal atresia	675	BRCA2	ORPHA:84
HP:0002023	Anal atresia	675	BRCA2	OMIM:605724
HP:0002023	Anal atresia	55120	FANCL	ORPHA:84
HP:0002023	Anal atresia	55120	FANCL	OMIM:614083
HP:0002023	Anal atresia	2177	FANCD2	ORPHA:84
HP:0002023	Anal atresia	2175	FANCA	ORPHA:84
HP:0002023	Anal atresia	2176	FANCC	ORPHA:84
HP:0002023	Anal atresia	2178	FANCE	ORPHA:84
HP:0002023	Anal atresia	2188	FANCF	ORPHA:84
HP:0002023	Anal atresia	2189	FANCG	ORPHA:84
HP:0002023	Anal atresia	5888	RAD51	ORPHA:84
HP:0002023	Anal atresia	5888	RAD51	OMIM:617244
HP:0002023	Anal atresia	5889	RAD51C	ORPHA:84
HP:0002023	Anal atresia	5889	RAD51C	OMIM:613390
HP:0002023	Anal atresia	55159	RFWD3	ORPHA:84
HP:0002023	Anal atresia	83990	BRIP1	ORPHA:84
HP:0002023	Anal atresia	57697	FANCM	ORPHA:84
HP:0002023	Anal atresia	79728	PALB2	ORPHA:84
HP:0002023	Anal atresia	79728	PALB2	OMIM:610832
HP:0002023	Anal atresia	84464	SLX4	ORPHA:84
HP:0002023	Anal atresia	2072	ERCC4	ORPHA:84
HP:0002023	Anal atresia	55215	FANCI	ORPHA:84
HP:0002023	Anal atresia	1312	COMT	ORPHA:567
HP:0002023	Anal atresia	221037	JMJD1C	ORPHA:567
HP:0002023	Anal atresia	2812	GP1BB	ORPHA:567
HP:0002023	Anal atresia	6239	RREB1	ORPHA:567
HP:0002023	Anal atresia	6899	TBX1	ORPHA:567
HP:0002023	Anal atresia	7290	HIRA	ORPHA:567
HP:0002023	Anal atresia	9632	SEC24C	ORPHA:567
HP:0002023	Anal atresia	7353	UFD1	ORPHA:567
HP:0002023	Anal atresia	421	ARVCF	ORPHA:567
HP:0002023	Anal atresia	25942	SIN3A	ORPHA:94065
HP:0002023	Anal atresia	25	ABL1	OMIM:617602
HP:0002023	Anal atresia	23065	EMC1	OMIM:616875
HP:0002023	Anal atresia	23065	EMC1	ORPHA:480898
HP:0002023	Anal atresia	55012	PPP2R3C	OMIM:618419
HP:0002023	Anal atresia	23495	TNFRSF13B	ORPHA:1572
HP:0002023	Anal atresia	4790	NFKB1	ORPHA:1572
HP:0002023	Anal atresia	4791	NFKB2	ORPHA:1572
HP:0002023	Anal atresia	115650	TNFRSF13C	ORPHA:1572
HP:0002023	Anal atresia	1380	CR2	ORPHA:1572
HP:0002023	Anal atresia	8742	TNFSF12	ORPHA:1572
HP:0002023	Anal atresia	930	CD19	ORPHA:1572
HP:0002023	Anal atresia	29851	ICOS	ORPHA:1572
HP:0002023	Anal atresia	931	MS4A1	ORPHA:1572
HP:0002023	Anal atresia	975	CD81	ORPHA:1572
HP:0002023	Anal atresia	359948	IRF2BP2	ORPHA:1572
HP:0002023	Anal atresia	55636	CHD7	OMIM:214800
HP:0002023	Anal atresia	10046	MAMLD1	ORPHA:95706
HP:0002023	Anal atresia	367	AR	ORPHA:95706
HP:0002023	Anal atresia	11193	WBP4	OMIM:620852
HP:0002023	Anal atresia	8642	DCHS1	OMIM:601390
HP:0002023	Anal atresia	6862	TBXT	OMIM:615709
HP:0002023	Anal atresia	4613	MYCN	ORPHA:391641
HP:0002023	Anal atresia	54880	BCOR	OMIM:309800
HP:0002023	Anal atresia	8260	NAA10	OMIM:309800
HP:0002023	Anal atresia	54539	NDUFB11	OMIM:309801
HP:0002023	Anal atresia	1349	COX7B	OMIM:309801
HP:0002023	Anal atresia	3052	HCCS	OMIM:309801
HP:0002023	Anal atresia	55773	TBC1D23	OMIM:617695
HP:0002023	Anal atresia	92002	CCNQ	OMIM:300707
HP:0002023	Anal atresia	92002	CCNQ	ORPHA:140952
HP:0002023	Anal atresia	8239	USP9X	ORPHA:480880
HP:0002023	Anal atresia	8239	USP9X	OMIM:300968
HP:0002023	Anal atresia	84720	PIGO	OMIM:614749
HP:0002023	Anal atresia	10653	SPINT2	OMIM:270420
HP:0002023	Anal atresia	79228	THOC6	ORPHA:363444
HP:0002023	Anal atresia	79813	EHMT1	ORPHA:261652
HP:0002023	Anal atresia	58508	KMT2C	ORPHA:261652
HP:0002023	Anal atresia	8318	CDC45	OMIM:617063
HP:0002023	Anal atresia	51339	DACT1	OMIM:617466
HP:0002023	Anal atresia	51339	DACT1	ORPHA:857
HP:0002023	Anal atresia	51339	DACT1	ORPHA:63260
HP:0002023	Anal atresia	79803	HPS6	OMIM:614075
HP:0002023	Anal atresia	23112	TNRC6B	OMIM:619243
HP:0002023	Anal atresia	3110	MNX1	ORPHA:1552
HP:0002023	Anal atresia	3110	MNX1	OMIM:176450
HP:0002023	Anal atresia	57466	SCAF4	OMIM:620511
HP:0002023	Anal atresia	7291	TWIST1	OMIM:617746
HP:0002023	Anal atresia	139285	AMER1	OMIM:300373
HP:0002023	Anal atresia	9897	WASHC5	OMIM:220210
HP:0002023	Anal atresia	9897	WASHC5	ORPHA:7
HP:0002023	Anal atresia	153241	CEP120	OMIM:616300
HP:0002023	Anal atresia	7476	WNT7A	ORPHA:2879
HP:0002023	Anal atresia	25836	NIPBL	OMIM:122470
HP:0002023	Anal atresia	1807	DPYS	OMIM:222748
HP:0002023	Anal atresia	26123	TCTN3	ORPHA:2753
HP:0002023	Anal atresia	3239	HOXD13	ORPHA:887
HP:0002023	Anal atresia	28952	CCDC22	ORPHA:7
HP:0002023	Anal atresia	57020	VPS35L	ORPHA:7
HP:0002023	Anal atresia	56896	DPYSL5	ORPHA:7
HP:0002023	Anal atresia	51733	UPB1	OMIM:613161
HP:0002023	Anal atresia	54903	MKS1	OMIM:249000
HP:0002023	Anal atresia	54101	RIPK4	OMIM:263650
HP:0002023	Anal atresia	9573	GDF3	ORPHA:2345
HP:0002023	Anal atresia	392255	GDF6	ORPHA:2345
HP:0002023	Anal atresia	4222	MEOX1	ORPHA:2345
HP:0002023	Anal atresia	27152	INTU	OMIM:617925
HP:0002023	Anal atresia	2719	GPC3	OMIM:312870
HP:0002023	Anal atresia	2239	GPC4	OMIM:312870
HP:0002023	Anal atresia	8085	KMT2D	OMIM:147920
HP:0002023	Anal atresia	7403	KDM6A	OMIM:147920
HP:0001551	Abnormal umbilicus morphology	23394	ADNP	ORPHA:404448
HP:0001551	Abnormal umbilicus morphology	26235	FBXL4	OMIM:615471
HP:0001551	Abnormal umbilicus morphology	341640	FREM2	ORPHA:2052
HP:0001551	Abnormal umbilicus morphology	23426	GRIP1	ORPHA:2052
HP:0001551	Abnormal umbilicus morphology	55503	TRPV6	OMIM:618188
HP:0001551	Abnormal umbilicus morphology	8425	LTBP4	OMIM:613177
HP:0001551	Abnormal umbilicus morphology	145173	B3GLCT	ORPHA:709
HP:0001551	Abnormal umbilicus morphology	145173	B3GLCT	OMIM:261540
HP:0001551	Abnormal umbilicus morphology	1788	DNMT3A	ORPHA:404443
HP:0001551	Abnormal umbilicus morphology	1788	DNMT3A	OMIM:615879
HP:0001551	Abnormal umbilicus morphology	4758	NEU1	ORPHA:93399
HP:0001551	Abnormal umbilicus morphology	4758	NEU1	ORPHA:93400
HP:0001551	Abnormal umbilicus morphology	64324	NSD1	ORPHA:821
HP:0001551	Abnormal umbilicus morphology	10297	APC2	ORPHA:821
HP:0001551	Abnormal umbilicus morphology	4487	MSX1	ORPHA:199302
HP:0001551	Abnormal umbilicus morphology	5818	NECTIN1	ORPHA:199302
HP:0001551	Abnormal umbilicus morphology	8626	TP63	ORPHA:199302
HP:0001551	Abnormal umbilicus morphology	8626	TP63	ORPHA:93930
HP:0001551	Abnormal umbilicus morphology	3664	IRF6	ORPHA:199302
HP:0001551	Abnormal umbilicus morphology	4125	MAN2B1	ORPHA:309282
HP:0001551	Abnormal umbilicus morphology	7849	PAX8	OMIM:218700
HP:0001551	Abnormal umbilicus morphology	7849	PAX8	ORPHA:95713
HP:0001551	Abnormal umbilicus morphology	7849	PAX8	ORPHA:95712
HP:0001551	Abnormal umbilicus morphology	4281	MID1	OMIM:300000
HP:0001551	Abnormal umbilicus morphology	4281	MID1	ORPHA:2745
HP:0001551	Abnormal umbilicus morphology	3481	IGF2	ORPHA:231144
HP:0001551	Abnormal umbilicus morphology	283120	H19	ORPHA:231144
HP:0001551	Abnormal umbilicus morphology	374654	KIF7	OMIM:200990
HP:0001551	Abnormal umbilicus morphology	2737	GLI3	ORPHA:380
HP:0001551	Abnormal umbilicus morphology	2737	GLI3	ORPHA:672
HP:0001551	Abnormal umbilicus morphology	2737	GLI3	OMIM:175700
HP:0001551	Abnormal umbilicus morphology	1855	DVL1	OMIM:616331
HP:0001551	Abnormal umbilicus morphology	1855	DVL1	ORPHA:3107
HP:0001551	Abnormal umbilicus morphology	1855	DVL1	OMIM:180700
HP:0001551	Abnormal umbilicus morphology	64412	GZF1	OMIM:617662
HP:0001551	Abnormal umbilicus morphology	283489	CHAMP1	OMIM:616579
HP:0001551	Abnormal umbilicus morphology	72	ACTG2	ORPHA:2604
HP:0001551	Abnormal umbilicus morphology	72	ACTG2	ORPHA:2241
HP:0001551	Abnormal umbilicus morphology	23384	SPECC1L	ORPHA:1519
HP:0001551	Abnormal umbilicus morphology	3764	KCNJ8	ORPHA:1517
HP:0001551	Abnormal umbilicus morphology	10060	ABCC9	ORPHA:1517
HP:0001551	Abnormal umbilicus morphology	10060	ABCC9	OMIM:239850
HP:0001551	Abnormal umbilicus morphology	79158	GNPTAB	OMIM:252500
HP:0001551	Abnormal umbilicus morphology	79158	GNPTAB	ORPHA:423461
HP:0001551	Abnormal umbilicus morphology	79158	GNPTAB	ORPHA:576
HP:0001551	Abnormal umbilicus morphology	55636	CHD7	ORPHA:138
HP:0001551	Abnormal umbilicus morphology	55636	CHD7	OMIM:214800
HP:0001551	Abnormal umbilicus morphology	9723	SEMA3E	ORPHA:138
HP:0001551	Abnormal umbilicus morphology	1353	COX11	OMIM:620275
HP:0001551	Abnormal umbilicus morphology	7253	TSHR	ORPHA:90673
HP:0001551	Abnormal umbilicus morphology	7253	TSHR	ORPHA:95713
HP:0001551	Abnormal umbilicus morphology	7252	TSHB	ORPHA:90674
HP:0001551	Abnormal umbilicus morphology	7252	TSHB	OMIM:275100
HP:0001551	Abnormal umbilicus morphology	29957	SLC25A24	ORPHA:2963
HP:0001551	Abnormal umbilicus morphology	29957	SLC25A24	ORPHA:2095
HP:0001551	Abnormal umbilicus morphology	29957	SLC25A24	OMIM:612289
HP:0001551	Abnormal umbilicus morphology	1146	CHRNG	OMIM:265000
HP:0001551	Abnormal umbilicus morphology	1146	CHRNG	ORPHA:2990
HP:0001551	Abnormal umbilicus morphology	57492	ARID1B	OMIM:135900
HP:0001551	Abnormal umbilicus morphology	54453	RIN2	OMIM:613075
HP:0001551	Abnormal umbilicus morphology	54453	RIN2	ORPHA:217335
HP:0001551	Abnormal umbilicus morphology	50814	NSDHL	OMIM:308050
HP:0001551	Abnormal umbilicus morphology	23545	ATP6V0A2	ORPHA:2834
HP:0001551	Abnormal umbilicus morphology	23545	ATP6V0A2	OMIM:278250
HP:0001551	Abnormal umbilicus morphology	4853	NOTCH2	OMIM:102500
HP:0001551	Abnormal umbilicus morphology	4853	NOTCH2	ORPHA:955
HP:0001551	Abnormal umbilicus morphology	3423	IDS	ORPHA:217085
HP:0001551	Abnormal umbilicus morphology	3423	IDS	OMIM:309900
HP:0001551	Abnormal umbilicus morphology	3423	IDS	ORPHA:217093
HP:0001551	Abnormal umbilicus morphology	9968	MED12	ORPHA:93932
HP:0001551	Abnormal umbilicus morphology	9968	MED12	OMIM:305450
HP:0001551	Abnormal umbilicus morphology	9968	MED12	OMIM:301068
HP:0001551	Abnormal umbilicus morphology	64359	NXN	ORPHA:1507
HP:0001551	Abnormal umbilicus morphology	4920	ROR2	ORPHA:1507
HP:0001551	Abnormal umbilicus morphology	4920	ROR2	OMIM:268310
HP:0001551	Abnormal umbilicus morphology	672	BRCA1	ORPHA:84
HP:0001551	Abnormal umbilicus morphology	10459	MAD2L2	ORPHA:84
HP:0001551	Abnormal umbilicus morphology	7516	XRCC2	ORPHA:84
HP:0001551	Abnormal umbilicus morphology	29089	UBE2T	ORPHA:84
HP:0001551	Abnormal umbilicus morphology	675	BRCA2	ORPHA:84
HP:0001551	Abnormal umbilicus morphology	55120	FANCL	ORPHA:84
HP:0001551	Abnormal umbilicus morphology	2177	FANCD2	ORPHA:84
HP:0001551	Abnormal umbilicus morphology	2175	FANCA	ORPHA:84
HP:0001551	Abnormal umbilicus morphology	2187	FANCB	ORPHA:84
HP:0001551	Abnormal umbilicus morphology	2176	FANCC	ORPHA:84
HP:0001551	Abnormal umbilicus morphology	2178	FANCE	ORPHA:84
HP:0001551	Abnormal umbilicus morphology	2188	FANCF	ORPHA:84
HP:0001551	Abnormal umbilicus morphology	2189	FANCG	ORPHA:84
HP:0001551	Abnormal umbilicus morphology	5888	RAD51	ORPHA:84
HP:0001551	Abnormal umbilicus morphology	5889	RAD51C	ORPHA:84
HP:0001551	Abnormal umbilicus morphology	55159	RFWD3	ORPHA:84
HP:0001551	Abnormal umbilicus morphology	83990	BRIP1	ORPHA:84
HP:0001551	Abnormal umbilicus morphology	57697	FANCM	ORPHA:84
HP:0001551	Abnormal umbilicus morphology	79728	PALB2	ORPHA:84
HP:0001551	Abnormal umbilicus morphology	84464	SLX4	ORPHA:84
HP:0001551	Abnormal umbilicus morphology	2072	ERCC4	ORPHA:84
HP:0001551	Abnormal umbilicus morphology	55215	FANCI	ORPHA:84
HP:0001551	Abnormal umbilicus morphology	3670	ISL1	ORPHA:93930
HP:0001551	Abnormal umbilicus morphology	6598	SMARCB1	OMIM:614608
HP:0001551	Abnormal umbilicus morphology	2697	GJA1	ORPHA:2710
HP:0001551	Abnormal umbilicus morphology	10555	AGPAT2	OMIM:608594
HP:0001551	Abnormal umbilicus morphology	1277	COL1A1	ORPHA:287
HP:0001551	Abnormal umbilicus morphology	1289	COL5A1	ORPHA:287
HP:0001551	Abnormal umbilicus morphology	1289	COL5A1	OMIM:130000
HP:0001551	Abnormal umbilicus morphology	1290	COL5A2	ORPHA:287
HP:0001551	Abnormal umbilicus morphology	6899	TBX1	OMIM:188400
HP:0001551	Abnormal umbilicus morphology	6899	TBX1	OMIM:192430
HP:0001551	Abnormal umbilicus morphology	6899	TBX1	ORPHA:567
HP:0001551	Abnormal umbilicus morphology	1281	COL3A1	ORPHA:286
HP:0001551	Abnormal umbilicus morphology	8726	EED	OMIM:617561
HP:0001551	Abnormal umbilicus morphology	22872	SEC31A	OMIM:618651
HP:0001551	Abnormal umbilicus morphology	54968	TMEM70	OMIM:614052
HP:0001551	Abnormal umbilicus morphology	11107	PRDM5	OMIM:614170
HP:0001551	Abnormal umbilicus morphology	26053	AUTS2	ORPHA:352490
HP:0001551	Abnormal umbilicus morphology	26053	AUTS2	OMIM:615834
HP:0001551	Abnormal umbilicus morphology	79813	EHMT1	OMIM:610253
HP:0001551	Abnormal umbilicus morphology	79813	EHMT1	ORPHA:261652
HP:0001551	Abnormal umbilicus morphology	29128	UHRF1	ORPHA:2268
HP:0001551	Abnormal umbilicus morphology	3070	HELLS	ORPHA:2268
HP:0001551	Abnormal umbilicus morphology	1789	DNMT3B	ORPHA:2268
HP:0001551	Abnormal umbilicus morphology	83879	CDCA7	ORPHA:2268
HP:0001551	Abnormal umbilicus morphology	9841	ZBTB24	ORPHA:2268
HP:0001551	Abnormal umbilicus morphology	1009	CDH11	ORPHA:1299
HP:0001551	Abnormal umbilicus morphology	1954	MEGF8	OMIM:614976
HP:0001551	Abnormal umbilicus morphology	1954	MEGF8	ORPHA:65759
HP:0001551	Abnormal umbilicus morphology	649	BMP1	OMIM:614856
HP:0001551	Abnormal umbilicus morphology	4036	LRP2	ORPHA:2143
HP:0001551	Abnormal umbilicus morphology	4036	LRP2	OMIM:222448
HP:0001551	Abnormal umbilicus morphology	3425	IDUA	OMIM:607014
HP:0001551	Abnormal umbilicus morphology	3425	IDUA	OMIM:607015
HP:0001551	Abnormal umbilicus morphology	175	AGA	ORPHA:93
HP:0001551	Abnormal umbilicus morphology	26834	RNU4-2	OMIM:620851
HP:0001551	Abnormal umbilicus morphology	165	AEBP1	ORPHA:536532
HP:0001551	Abnormal umbilicus morphology	165	AEBP1	OMIM:618000
HP:0001551	Abnormal umbilicus morphology	1947	EFNB1	OMIM:304110
HP:0001551	Abnormal umbilicus morphology	1836	SLC26A2	OMIM:600972
HP:0001551	Abnormal umbilicus morphology	1836	SLC26A2	ORPHA:93298
HP:0001551	Abnormal umbilicus morphology	4952	OCRL	OMIM:300555
HP:0001551	Abnormal umbilicus morphology	4952	OCRL	ORPHA:534
HP:0001551	Abnormal umbilicus morphology	23512	SUZ12	OMIM:618786
HP:0001551	Abnormal umbilicus morphology	23126	POGZ	OMIM:616364
HP:0001551	Abnormal umbilicus morphology	54914	FOCAD	OMIM:619991
HP:0001551	Abnormal umbilicus morphology	5626	PROP1	ORPHA:226307
HP:0001551	Abnormal umbilicus morphology	89884	LHX4	ORPHA:226307
HP:0001551	Abnormal umbilicus morphology	8022	LHX3	ORPHA:226307
HP:0001551	Abnormal umbilicus morphology	5449	POU1F1	ORPHA:226307
HP:0001551	Abnormal umbilicus morphology	8820	HESX1	ORPHA:226307
HP:0001551	Abnormal umbilicus morphology	1857	DVL3	ORPHA:3107
HP:0001551	Abnormal umbilicus morphology	7474	WNT5A	ORPHA:3107
HP:0001551	Abnormal umbilicus morphology	7474	WNT5A	OMIM:180700
HP:0001551	Abnormal umbilicus morphology	2535	FZD2	ORPHA:3107
HP:0001551	Abnormal umbilicus morphology	9681	DEPDC5	OMIM:620504
HP:0001551	Abnormal umbilicus morphology	2627	GATA6	ORPHA:2255
HP:0001551	Abnormal umbilicus morphology	2627	GATA6	OMIM:600001
HP:0001551	Abnormal umbilicus morphology	6804	STX1A	ORPHA:904
HP:0001551	Abnormal umbilicus morphology	7461	CLIP2	ORPHA:904
HP:0001551	Abnormal umbilicus morphology	84277	DNAJC30	ORPHA:904
HP:0001551	Abnormal umbilicus morphology	8468	FKBP6	ORPHA:904
HP:0001551	Abnormal umbilicus morphology	5982	RFC2	ORPHA:904
HP:0001551	Abnormal umbilicus morphology	2969	GTF2I	ORPHA:904
HP:0001551	Abnormal umbilicus morphology	3984	LIMK1	ORPHA:904
HP:0001551	Abnormal umbilicus morphology	9569	GTF2IRD1	ORPHA:904
HP:0001551	Abnormal umbilicus morphology	155382	VPS37D	ORPHA:904
HP:0001551	Abnormal umbilicus morphology	155368	METTL27	ORPHA:904
HP:0001551	Abnormal umbilicus morphology	114049	BUD23	ORPHA:904
HP:0001551	Abnormal umbilicus morphology	7458	EIF4H	ORPHA:904
HP:0001551	Abnormal umbilicus morphology	84163	GTF2IRD2	ORPHA:904
HP:0001551	Abnormal umbilicus morphology	26608	TBL2	ORPHA:904
HP:0001551	Abnormal umbilicus morphology	653361	NCF1	ORPHA:904
HP:0001551	Abnormal umbilicus morphology	135886	TMEM270	ORPHA:904
HP:0001551	Abnormal umbilicus morphology	9031	BAZ1B	ORPHA:904
HP:0001551	Abnormal umbilicus morphology	2006	ELN	ORPHA:904
HP:0001551	Abnormal umbilicus morphology	2006	ELN	OMIM:194050
HP:0001551	Abnormal umbilicus morphology	79753	SNIP1	OMIM:614501
HP:0001551	Abnormal umbilicus morphology	5593	PRKG2	OMIM:619636
HP:0001551	Abnormal umbilicus morphology	8364	H4C3	OMIM:619758
HP:0001551	Abnormal umbilicus morphology	8517	IKBKG	ORPHA:464
HP:0001551	Abnormal umbilicus morphology	2990	GUSB	ORPHA:584
HP:0001551	Abnormal umbilicus morphology	2990	GUSB	OMIM:253220
HP:0001551	Abnormal umbilicus morphology	2200	FBN1	OMIM:608328
HP:0001551	Abnormal umbilicus morphology	2200	FBN1	ORPHA:2462
HP:0001551	Abnormal umbilicus morphology	715	C1R	OMIM:130080
HP:0001551	Abnormal umbilicus morphology	58508	KMT2C	ORPHA:261652
HP:0001551	Abnormal umbilicus morphology	50506	DUOX2	ORPHA:226316
HP:0001551	Abnormal umbilicus morphology	50506	DUOX2	ORPHA:95716
HP:0001551	Abnormal umbilicus morphology	54487	DGCR8	OMIM:192430
HP:0001551	Abnormal umbilicus morphology	8214	DGCR6	OMIM:192430
HP:0001551	Abnormal umbilicus morphology	8220	ESS2	OMIM:192430
HP:0001551	Abnormal umbilicus morphology	9993	DGCR2	OMIM:192430
HP:0001551	Abnormal umbilicus morphology	25802	LMOD1	ORPHA:2241
HP:0001551	Abnormal umbilicus morphology	4629	MYH11	ORPHA:2241
HP:0001551	Abnormal umbilicus morphology	4638	MYLK	ORPHA:2241
HP:0001551	Abnormal umbilicus morphology	51341	ZBTB7A	OMIM:619769
HP:0001551	Abnormal umbilicus morphology	5832	ALDH18A1	OMIM:219150
HP:0001551	Abnormal umbilicus morphology	2316	FLNA	OMIM:304120
HP:0001551	Abnormal umbilicus morphology	2316	FLNA	ORPHA:75497
HP:0001551	Abnormal umbilicus morphology	51085	MLXIPL	OMIM:194050
HP:0001551	Abnormal umbilicus morphology	55343	SLC35C1	ORPHA:99843
HP:0001551	Abnormal umbilicus morphology	7030	TFE3	OMIM:301066
HP:0001551	Abnormal umbilicus morphology	2239	GPC4	ORPHA:373
HP:0001551	Abnormal umbilicus morphology	2239	GPC4	OMIM:312870
HP:0001551	Abnormal umbilicus morphology	2719	GPC3	ORPHA:373
HP:0001551	Abnormal umbilicus morphology	2719	GPC3	OMIM:312870
HP:0001551	Abnormal umbilicus morphology	81031	SLC2A10	OMIM:208050
HP:0001551	Abnormal umbilicus morphology	284098	PIGW	OMIM:616025
HP:0001551	Abnormal umbilicus morphology	259232	NALCN	OMIM:616266
HP:0001551	Abnormal umbilicus morphology	23483	TGDS	OMIM:616145
HP:0001551	Abnormal umbilicus morphology	285203	EOGT	OMIM:615297
HP:0001551	Abnormal umbilicus morphology	57479	PRR12	OMIM:619539
HP:0001551	Abnormal umbilicus morphology	4851	NOTCH1	OMIM:616028
HP:0001551	Abnormal umbilicus morphology	84168	ANTXR1	OMIM:230740
HP:0001551	Abnormal umbilicus morphology	84168	ANTXR1	ORPHA:2067
HP:0001551	Abnormal umbilicus morphology	64919	BCL11B	OMIM:617237
HP:0001551	Abnormal umbilicus morphology	4088	SMAD3	OMIM:613795
HP:0001551	Abnormal umbilicus morphology	4088	SMAD3	ORPHA:284984
HP:0001551	Abnormal umbilicus morphology	4087	SMAD2	OMIM:619656
HP:0001551	Abnormal umbilicus morphology	3930	LBR	OMIM:169400
HP:0001551	Abnormal umbilicus morphology	2146	EZH2	OMIM:277590
HP:0001551	Abnormal umbilicus morphology	7048	TGFBR2	OMIM:610168
HP:0001551	Abnormal umbilicus morphology	1107	CHD3	OMIM:618205
HP:0001551	Abnormal umbilicus morphology	9321	TRIP11	ORPHA:93299
HP:0001551	Abnormal umbilicus morphology	404672	GTF2H5	ORPHA:33364
HP:0001551	Abnormal umbilicus morphology	833	CARS1	ORPHA:33364
HP:0001551	Abnormal umbilicus morphology	2068	ERCC2	ORPHA:33364
HP:0001551	Abnormal umbilicus morphology	7737	RNF113A	ORPHA:33364
HP:0001551	Abnormal umbilicus morphology	136647	MPLKIP	ORPHA:33364
HP:0001551	Abnormal umbilicus morphology	6897	TARS1	ORPHA:33364
HP:0001551	Abnormal umbilicus morphology	16	AARS1	ORPHA:33364
HP:0001551	Abnormal umbilicus morphology	2071	ERCC3	ORPHA:33364
HP:0001551	Abnormal umbilicus morphology	2961	GTF2E2	ORPHA:33364
HP:0001551	Abnormal umbilicus morphology	3339	HSPG2	OMIM:255800
HP:0001551	Abnormal umbilicus morphology	3339	HSPG2	ORPHA:800
HP:0001551	Abnormal umbilicus morphology	147372	CCBE1	OMIM:235510
HP:0001551	Abnormal umbilicus morphology	6528	SLC5A5	OMIM:274400
HP:0001551	Abnormal umbilicus morphology	6528	SLC5A5	ORPHA:95716
HP:0001551	Abnormal umbilicus morphology	117581	TWIST2	ORPHA:920
HP:0001551	Abnormal umbilicus morphology	6595	SMARCA2	OMIM:601358
HP:0001551	Abnormal umbilicus morphology	1387	CREBBP	OMIM:618332
HP:0001551	Abnormal umbilicus morphology	1387	CREBBP	ORPHA:592574
HP:0001551	Abnormal umbilicus morphology	8295	TRRAP	OMIM:618454
HP:0001551	Abnormal umbilicus morphology	9742	IFT140	OMIM:266920
HP:0001551	Abnormal umbilicus morphology	55690	PACS1	ORPHA:329224
HP:0001551	Abnormal umbilicus morphology	51053	GMNN	OMIM:616835
HP:0001551	Abnormal umbilicus morphology	2245	FGD1	ORPHA:915
HP:0001551	Abnormal umbilicus morphology	2245	FGD1	OMIM:305400
HP:0001551	Abnormal umbilicus morphology	6497	SKI	ORPHA:2462
HP:0001551	Abnormal umbilicus morphology	6497	SKI	OMIM:182212
HP:0001551	Abnormal umbilicus morphology	5908	RAP1B	OMIM:620654
HP:0001551	Abnormal umbilicus morphology	90417	KNSTRN	OMIM:613328
HP:0001551	Abnormal umbilicus morphology	90417	KNSTRN	ORPHA:221139
HP:0001551	Abnormal umbilicus morphology	5293	PIK3CD	OMIM:613328
HP:0001551	Abnormal umbilicus morphology	5293	PIK3CD	ORPHA:221139
HP:0001551	Abnormal umbilicus morphology	6792	CDKL5	ORPHA:1934
HP:0001551	Abnormal umbilicus morphology	3736	KCNA1	ORPHA:1934
HP:0001551	Abnormal umbilicus morphology	9091	PIGQ	ORPHA:1934
HP:0001551	Abnormal umbilicus morphology	140679	SLC32A1	ORPHA:1934
HP:0001551	Abnormal umbilicus morphology	2775	GNAO1	ORPHA:1934
HP:0001551	Abnormal umbilicus morphology	81603	TRIM8	ORPHA:1934
HP:0001551	Abnormal umbilicus morphology	2902	GRIN1	ORPHA:1934
HP:0001551	Abnormal umbilicus morphology	79751	SLC25A22	ORPHA:1934
HP:0001551	Abnormal umbilicus morphology	150094	SIK1	ORPHA:1934
HP:0001551	Abnormal umbilicus morphology	8573	CASK	ORPHA:1934
HP:0001551	Abnormal umbilicus morphology	23312	DMXL2	ORPHA:1934
HP:0001551	Abnormal umbilicus morphology	2917	GRM7	ORPHA:1934
HP:0001551	Abnormal umbilicus morphology	170302	ARX	ORPHA:1934
HP:0001551	Abnormal umbilicus morphology	11284	PNKP	ORPHA:1934
HP:0001551	Abnormal umbilicus morphology	6326	SCN2A	ORPHA:1934
HP:0001551	Abnormal umbilicus morphology	51227	PIGP	ORPHA:1934
HP:0001551	Abnormal umbilicus morphology	6324	SCN1B	ORPHA:1934
HP:0001551	Abnormal umbilicus morphology	4761	NEUROD2	ORPHA:1934
HP:0001551	Abnormal umbilicus morphology	9361	LONP1	OMIM:600373
HP:0001551	Abnormal umbilicus morphology	6448	SGSH	OMIM:252900
HP:0001551	Abnormal umbilicus morphology	388015	RTL1	ORPHA:254534
HP:0001551	Abnormal umbilicus morphology	388015	RTL1	ORPHA:254528
HP:0001551	Abnormal umbilicus morphology	8788	DLK1	ORPHA:254534
HP:0001551	Abnormal umbilicus morphology	8788	DLK1	ORPHA:254528
HP:0001551	Abnormal umbilicus morphology	55384	MEG3	ORPHA:254534
HP:0001551	Abnormal umbilicus morphology	55384	MEG3	ORPHA:254528
HP:0001551	Abnormal umbilicus morphology	9759	HDAC4	ORPHA:1001
HP:0001551	Abnormal umbilicus morphology	4076	CAPRIN1	OMIM:620782
HP:0001551	Abnormal umbilicus morphology	546	ATRX	OMIM:301040
HP:0001551	Abnormal umbilicus morphology	411	ARSB	OMIM:253200
HP:0001551	Abnormal umbilicus morphology	6299	SALL1	OMIM:107480
HP:0001551	Abnormal umbilicus morphology	10847	SRCAP	OMIM:136140
HP:0001551	Abnormal umbilicus morphology	5515	PPP2CA	OMIM:618354
HP:0001551	Abnormal umbilicus morphology	4854	NOTCH3	OMIM:130720
HP:0001551	Abnormal umbilicus morphology	4854	NOTCH3	ORPHA:2789
HP:0001551	Abnormal umbilicus morphology	23291	FBXW11	OMIM:618914
HP:0001551	Abnormal umbilicus morphology	169792	GLIS3	OMIM:610199
HP:0001551	Abnormal umbilicus morphology	3097	HIVEP2	OMIM:616977
HP:0001551	Abnormal umbilicus morphology	55033	FKBP14	OMIM:614557
HP:0001551	Abnormal umbilicus morphology	3767	KCNJ11	ORPHA:99886
HP:0001551	Abnormal umbilicus morphology	346171	ZFP57	ORPHA:99886
HP:0001551	Abnormal umbilicus morphology	57061	HYMAI	ORPHA:99886
HP:0001551	Abnormal umbilicus morphology	57061	HYMAI	ORPHA:96191
HP:0001551	Abnormal umbilicus morphology	6833	ABCC8	ORPHA:99886
HP:0001551	Abnormal umbilicus morphology	5325	PLAGL1	ORPHA:99886
HP:0001551	Abnormal umbilicus morphology	5325	PLAGL1	ORPHA:96191
HP:0001551	Abnormal umbilicus morphology	79068	FTO	OMIM:612938
HP:0001551	Abnormal umbilicus morphology	4784	NFIX	OMIM:602535
HP:0001551	Abnormal umbilicus morphology	3756	KCNH1	OMIM:135500
HP:0001551	Abnormal umbilicus morphology	8260	NAA10	OMIM:300855
HP:0001551	Abnormal umbilicus morphology	10082	GPC6	OMIM:258315
HP:0001551	Abnormal umbilicus morphology	405753	DUOXA2	ORPHA:95716
HP:0001551	Abnormal umbilicus morphology	7038	TG	ORPHA:95716
HP:0001551	Abnormal umbilicus morphology	7173	TPO	ORPHA:95716
HP:0001551	Abnormal umbilicus morphology	389434	IYD	ORPHA:95716
HP:0001551	Abnormal umbilicus morphology	55603	TENT5A	OMIM:617952
HP:0001551	Abnormal umbilicus morphology	7080	NKX2-1	ORPHA:95713
HP:0001551	Abnormal umbilicus morphology	1482	NKX2-5	ORPHA:95713
HP:0001551	Abnormal umbilicus morphology	1482	NKX2-5	ORPHA:95712
HP:0001551	Abnormal umbilicus morphology	2304	FOXE1	ORPHA:95713
HP:0001551	Abnormal umbilicus morphology	5172	SLC26A4	ORPHA:95713
HP:0001551	Abnormal umbilicus morphology	134701	RIPPLY2	ORPHA:2311
HP:0001551	Abnormal umbilicus morphology	10683	DLL3	ORPHA:2311
HP:0001551	Abnormal umbilicus morphology	3955	LFNG	ORPHA:2311
HP:0001551	Abnormal umbilicus morphology	84667	HES7	ORPHA:2311
HP:0001551	Abnormal umbilicus morphology	145873	MESP2	ORPHA:2311
HP:0001551	Abnormal umbilicus morphology	2019	EN1	OMIM:619218
HP:0001551	Abnormal umbilicus morphology	23389	MED13L	ORPHA:369891
HP:0001551	Abnormal umbilicus morphology	5351	PLOD1	ORPHA:1900
HP:0001551	Abnormal umbilicus morphology	1312	COMT	ORPHA:567
HP:0001551	Abnormal umbilicus morphology	221037	JMJD1C	ORPHA:567
HP:0001551	Abnormal umbilicus morphology	2812	GP1BB	ORPHA:567
HP:0001551	Abnormal umbilicus morphology	6239	RREB1	ORPHA:567
HP:0001551	Abnormal umbilicus morphology	7290	HIRA	ORPHA:567
HP:0001551	Abnormal umbilicus morphology	9632	SEC24C	ORPHA:567
HP:0001551	Abnormal umbilicus morphology	7353	UFD1	ORPHA:567
HP:0001551	Abnormal umbilicus morphology	421	ARVCF	ORPHA:567
HP:0001551	Abnormal umbilicus morphology	538	ATP7A	ORPHA:565
HP:0001551	Abnormal umbilicus morphology	6045	RNF2	OMIM:619460
HP:0001551	Abnormal umbilicus morphology	1280	COL2A1	OMIM:156550
HP:0001551	Abnormal umbilicus morphology	2743	GLRB	ORPHA:3197
HP:0001551	Abnormal umbilicus morphology	2741	GLRA1	ORPHA:3197
HP:0001551	Abnormal umbilicus morphology	2741	GLRA1	OMIM:149400
HP:0001551	Abnormal umbilicus morphology	10243	GPHN	ORPHA:3197
HP:0001551	Abnormal umbilicus morphology	10243	GPHN	OMIM:149400
HP:0001551	Abnormal umbilicus morphology	84896	ATAD1	ORPHA:3197
HP:0001551	Abnormal umbilicus morphology	84896	ATAD1	OMIM:618011
HP:0001551	Abnormal umbilicus morphology	9152	SLC6A5	ORPHA:3197
HP:0001551	Abnormal umbilicus morphology	9509	ADAMTS2	OMIM:225410
HP:0001551	Abnormal umbilicus morphology	633	BGN	OMIM:300989
HP:0001551	Abnormal umbilicus morphology	2475	MTOR	OMIM:616638
HP:0001551	Abnormal umbilicus morphology	51715	RAB23	ORPHA:65759
HP:0001551	Abnormal umbilicus morphology	51715	RAB23	OMIM:201000
HP:0001551	Abnormal umbilicus morphology	26227	PHGDH	ORPHA:79351
HP:0001551	Abnormal umbilicus morphology	26040	SETBP1	ORPHA:798
HP:0001551	Abnormal umbilicus morphology	64864	RFX7	OMIM:620330
HP:0001551	Abnormal umbilicus morphology	64840	PORCN	OMIM:305600
HP:0001551	Abnormal umbilicus morphology	64840	PORCN	ORPHA:2092
HP:0001551	Abnormal umbilicus morphology	84265	POLR3GL	OMIM:619234
HP:0001551	Abnormal umbilicus morphology	716	C1S	OMIM:617174
HP:0001551	Abnormal umbilicus morphology	10526	IPO8	OMIM:619472
HP:0001551	Abnormal umbilicus morphology	26580	BSCL2	OMIM:269700
HP:0001551	Abnormal umbilicus morphology	94005	PIGS	OMIM:618143
HP:0001551	Abnormal umbilicus morphology	1861	TOR1A	OMIM:618947
HP:0001551	Abnormal umbilicus morphology	285590	SH3PXD2B	ORPHA:137834
HP:0001551	Abnormal umbilicus morphology	23405	DICER1	OMIM:618272
HP:0001551	Abnormal umbilicus morphology	113189	CHST14	OMIM:601776
HP:0001551	Abnormal umbilicus morphology	51360	MBTPS2	OMIM:308205
HP:0001551	Abnormal umbilicus morphology	1457	CSNK2A1	OMIM:617062
HP:0001551	Abnormal umbilicus morphology	54880	BCOR	OMIM:300166
HP:0001551	Abnormal umbilicus morphology	2263	FGFR2	ORPHA:1555
HP:0001551	Abnormal umbilicus morphology	100506658	OCLN	OMIM:251290
HP:0001551	Abnormal umbilicus morphology	23169	SLC35D1	OMIM:269250
HP:0001551	Abnormal umbilicus morphology	60	ACTB	OMIM:620475
HP:0001551	Abnormal umbilicus morphology	149461	CLDN19	ORPHA:2196
HP:0001551	Abnormal umbilicus morphology	5879	RAC1	OMIM:617751
HP:0001551	Abnormal umbilicus morphology	5879	RAC1	ORPHA:500159
HP:0001551	Abnormal umbilicus morphology	84231	TRAF7	OMIM:618164
HP:0001551	Abnormal umbilicus morphology	51780	KDM3B	OMIM:618846
HP:0001551	Abnormal umbilicus morphology	9487	PIGL	OMIM:280000
HP:0001551	Abnormal umbilicus morphology	10584	COLEC10	ORPHA:293843
HP:0001551	Abnormal umbilicus morphology	5648	MASP1	ORPHA:293843
HP:0001551	Abnormal umbilicus morphology	78989	COLEC11	ORPHA:293843
HP:0001551	Abnormal umbilicus morphology	63916	ELMO2	OMIM:606893
HP:0001551	Abnormal umbilicus morphology	5479	PPIB	OMIM:259440
HP:0001551	Abnormal umbilicus morphology	4621	MYH3	ORPHA:2990
HP:0001551	Abnormal umbilicus morphology	10516	FBLN5	OMIM:219100
HP:0001551	Abnormal umbilicus morphology	5727	PTCH1	ORPHA:77301
HP:0001551	Abnormal umbilicus morphology	55553	SOX6	OMIM:618971
HP:0001551	Abnormal umbilicus morphology	7543	ZFX	OMIM:301118
HP:0001551	Abnormal umbilicus morphology	203068	TUBB	ORPHA:2505
HP:0001551	Abnormal umbilicus morphology	10982	MAPRE2	ORPHA:2505
HP:0001551	Abnormal umbilicus morphology	7994	KAT6A	OMIM:616268
HP:0001551	Abnormal umbilicus morphology	4000	LMNA	ORPHA:740
HP:0001551	Abnormal umbilicus morphology	10269	ZMPSTE24	ORPHA:740
HP:0001551	Abnormal umbilicus morphology	284119	CAVIN1	OMIM:613327
HP:0001551	Abnormal umbilicus morphology	80144	FRAS1	OMIM:219000
HP:0001551	Abnormal umbilicus morphology	3848	KRT1	ORPHA:530838
HP:0001551	Abnormal umbilicus morphology	54101	RIPK4	OMIM:263650
HP:0001552	Barrel-shaped chest	54808	DYM	OMIM:223800
HP:0001552	Barrel-shaped chest	54808	DYM	OMIM:607326
HP:0001552	Barrel-shaped chest	1280	COL2A1	OMIM:271700
HP:0001552	Barrel-shaped chest	1280	COL2A1	ORPHA:94068
HP:0001552	Barrel-shaped chest	1280	COL2A1	OMIM:200610
HP:0001552	Barrel-shaped chest	1280	COL2A1	OMIM:183900
HP:0001552	Barrel-shaped chest	3930	LBR	OMIM:215140
HP:0001552	Barrel-shaped chest	9321	TRIP11	OMIM:200600
HP:0001552	Barrel-shaped chest	6399	TRAPPC2	ORPHA:93284
HP:0001552	Barrel-shaped chest	6399	TRAPPC2	OMIM:313400
HP:0001552	Barrel-shaped chest	4621	MYH3	OMIM:178110
HP:0001552	Barrel-shaped chest	65082	VPS33A	ORPHA:505248
HP:0001552	Barrel-shaped chest	54	ACP5	OMIM:607944
HP:0001552	Barrel-shaped chest	9469	CHST3	ORPHA:263463
HP:0001552	Barrel-shaped chest	9469	CHST3	OMIM:143095
HP:0001552	Barrel-shaped chest	11014	KDELR2	OMIM:619131
HP:0001552	Barrel-shaped chest	2517	FUCA1	OMIM:230000
HP:0001552	Barrel-shaped chest	1305	COL13A1	OMIM:616720
HP:0001552	Barrel-shaped chest	7476	WNT7A	OMIM:276820
HP:0001552	Barrel-shaped chest	59341	TRPV4	OMIM:113500
HP:0001552	Barrel-shaped chest	4982	TNFRSF11B	OMIM:239000
HP:0001552	Barrel-shaped chest	9451	EIF2AK3	OMIM:226980
HP:0001552	Barrel-shaped chest	83452	RAB33B	OMIM:615222
HP:0001552	Barrel-shaped chest	22858	CILK1	OMIM:612651
HP:0001552	Barrel-shaped chest	6023	RMRP	OMIM:607095
HP:0001552	Barrel-shaped chest	176	ACAN	ORPHA:171866
HP:0001552	Barrel-shaped chest	176	ACAN	OMIM:612813
HP:0001552	Barrel-shaped chest	4041	LRP5	OMIM:259770
HP:0001552	Barrel-shaped chest	3265	HRAS	OMIM:218040
HP:0001552	Barrel-shaped chest	64175	P3H1	OMIM:610915
HP:0006610	Wide intermamillary distance	3480	IGF1R	ORPHA:73273
HP:0006610	Wide intermamillary distance	3480	IGF1R	OMIM:270450
HP:0006610	Wide intermamillary distance	9949	AMMECR1	OMIM:300990
HP:0006610	Wide intermamillary distance	2260	FGFR1	ORPHA:432
HP:0006610	Wide intermamillary distance	81848	SPRY4	ORPHA:432
HP:0006610	Wide intermamillary distance	128674	PROKR2	ORPHA:432
HP:0006610	Wide intermamillary distance	2253	FGF8	ORPHA:432
HP:0006610	Wide intermamillary distance	60675	PROK2	ORPHA:432
HP:0006610	Wide intermamillary distance	55636	CHD7	ORPHA:432
HP:0006610	Wide intermamillary distance	6870	TACR3	ORPHA:432
HP:0006610	Wide intermamillary distance	1848	DUSP6	ORPHA:432
HP:0006610	Wide intermamillary distance	26012	NSMF	ORPHA:432
HP:0006610	Wide intermamillary distance	55717	WDR11	ORPHA:432
HP:0006610	Wide intermamillary distance	4808	NHLH2	ORPHA:432
HP:0006610	Wide intermamillary distance	9394	HS6ST1	ORPHA:432
HP:0006610	Wide intermamillary distance	2796	GNRH1	ORPHA:432
HP:0006610	Wide intermamillary distance	2798	GNRHR	ORPHA:432
HP:0006610	Wide intermamillary distance	84634	KISS1R	ORPHA:432
HP:0006610	Wide intermamillary distance	6866	TAC3	ORPHA:432
HP:0006610	Wide intermamillary distance	8822	FGF17	ORPHA:432
HP:0006610	Wide intermamillary distance	3814	KISS1	ORPHA:432
HP:0006610	Wide intermamillary distance	55906	ZC4H2	OMIM:301041
HP:0006610	Wide intermamillary distance	23394	ADNP	ORPHA:404448
HP:0006610	Wide intermamillary distance	199857	ALG14	OMIM:619036
HP:0006610	Wide intermamillary distance	341640	FREM2	ORPHA:2052
HP:0006610	Wide intermamillary distance	80144	FRAS1	ORPHA:2052
HP:0006610	Wide intermamillary distance	80144	FRAS1	OMIM:219000
HP:0006610	Wide intermamillary distance	23426	GRIP1	ORPHA:2052
HP:0006610	Wide intermamillary distance	26128	KIFBP	OMIM:609460
HP:0006610	Wide intermamillary distance	23556	PIGN	ORPHA:2059
HP:0006610	Wide intermamillary distance	9759	HDAC4	ORPHA:1001
HP:0006610	Wide intermamillary distance	55627	SMPD4	OMIM:618622
HP:0006610	Wide intermamillary distance	145173	B3GLCT	ORPHA:709
HP:0006610	Wide intermamillary distance	145173	B3GLCT	OMIM:261540
HP:0006610	Wide intermamillary distance	79796	ALG9	OMIM:608776
HP:0006610	Wide intermamillary distance	79848	CSPP1	ORPHA:397715
HP:0006610	Wide intermamillary distance	9786	KIAA0586	ORPHA:397715
HP:0006610	Wide intermamillary distance	7707	ZNF148	OMIM:617260
HP:0006610	Wide intermamillary distance	1349	COX7B	OMIM:300887
HP:0006610	Wide intermamillary distance	10300	KATNB1	OMIM:616212
HP:0006610	Wide intermamillary distance	2137	EXTL3	OMIM:617425
HP:0006610	Wide intermamillary distance	22858	CILK1	OMIM:612651
HP:0006610	Wide intermamillary distance	55690	PACS1	OMIM:615009
HP:0006610	Wide intermamillary distance	55690	PACS1	ORPHA:329224
HP:0006610	Wide intermamillary distance	4081	MAB21L1	OMIM:618479
HP:0006610	Wide intermamillary distance	4081	MAB21L1	ORPHA:495875
HP:0006610	Wide intermamillary distance	10982	MAPRE2	OMIM:616734
HP:0006610	Wide intermamillary distance	1717	DHCR7	ORPHA:818
HP:0006610	Wide intermamillary distance	5818	NECTIN1	ORPHA:3253
HP:0006610	Wide intermamillary distance	55780	ERMARD	ORPHA:75857
HP:0006610	Wide intermamillary distance	8626	TP63	OMIM:103285
HP:0006610	Wide intermamillary distance	79158	GNPTAB	OMIM:252500
HP:0006610	Wide intermamillary distance	9382	COG1	OMIM:611209
HP:0006610	Wide intermamillary distance	3417	IDH1	ORPHA:99646
HP:0006610	Wide intermamillary distance	3190	HNRNPK	OMIM:616580
HP:0006610	Wide intermamillary distance	55870	ASH1L	OMIM:617796
HP:0006610	Wide intermamillary distance	7468	NSD2	OMIM:619695
HP:0006610	Wide intermamillary distance	9469	CHST3	OMIM:143095
HP:0006610	Wide intermamillary distance	23511	NUP188	OMIM:618804
HP:0006610	Wide intermamillary distance	1009	CDH11	OMIM:211380
HP:0006610	Wide intermamillary distance	2626	GATA4	ORPHA:251071
HP:0006610	Wide intermamillary distance	7020	TFAP2A	OMIM:113620
HP:0006610	Wide intermamillary distance	23116	TOGARAM1	OMIM:619185
HP:0006610	Wide intermamillary distance	7319	UBE2A	OMIM:300860
HP:0006610	Wide intermamillary distance	7319	UBE2A	ORPHA:163956
HP:0006610	Wide intermamillary distance	10087	CERT1	OMIM:616351
HP:0006610	Wide intermamillary distance	8726	EED	OMIM:617561
HP:0006610	Wide intermamillary distance	22884	WDR37	OMIM:618652
HP:0006610	Wide intermamillary distance	372	ARCN1	OMIM:617164
HP:0006610	Wide intermamillary distance	1954	MEGF8	OMIM:614976
HP:0006610	Wide intermamillary distance	2783	GNB2	OMIM:619503
HP:0006610	Wide intermamillary distance	3930	LBR	OMIM:618019
HP:0006610	Wide intermamillary distance	5826	ABCD4	OMIM:614857
HP:0006610	Wide intermamillary distance	4247	MGAT2	OMIM:212066
HP:0006610	Wide intermamillary distance	4763	NF1	ORPHA:97685
HP:0006610	Wide intermamillary distance	6874	TAF4	OMIM:620450
HP:0006610	Wide intermamillary distance	79718	TBL1XR1	ORPHA:487825
HP:0006610	Wide intermamillary distance	79718	TBL1XR1	OMIM:602342
HP:0006610	Wide intermamillary distance	2074	ERCC6	OMIM:214150
HP:0006610	Wide intermamillary distance	6611	SMS	ORPHA:3063
HP:0006610	Wide intermamillary distance	6611	SMS	OMIM:309583
HP:0006610	Wide intermamillary distance	22931	RAB18	OMIM:614222
HP:0006610	Wide intermamillary distance	92609	TIMM50	OMIM:617698
HP:0006610	Wide intermamillary distance	3845	KRAS	OMIM:609942
HP:0006610	Wide intermamillary distance	3845	KRAS	ORPHA:648
HP:0006610	Wide intermamillary distance	54499	TMCO1	OMIM:213980
HP:0006610	Wide intermamillary distance	5293	PIK3CD	ORPHA:221139
HP:0006610	Wide intermamillary distance	90417	KNSTRN	ORPHA:221139
HP:0006610	Wide intermamillary distance	8936	WASF1	OMIM:618707
HP:0006610	Wide intermamillary distance	6595	SMARCA2	ORPHA:3051
HP:0006610	Wide intermamillary distance	203068	TUBB	OMIM:156610
HP:0006610	Wide intermamillary distance	8567	MADD	OMIM:619004
HP:0006610	Wide intermamillary distance	91875	TTC5	OMIM:619244
HP:0006610	Wide intermamillary distance	5500	PPP1CB	OMIM:617506
HP:0006610	Wide intermamillary distance	9772	TMEM94	OMIM:618316
HP:0006610	Wide intermamillary distance	79971	WLS	OMIM:619648
HP:0006610	Wide intermamillary distance	388015	RTL1	ORPHA:96334
HP:0006610	Wide intermamillary distance	8788	DLK1	ORPHA:96334
HP:0006610	Wide intermamillary distance	55384	MEG3	ORPHA:96334
HP:0006610	Wide intermamillary distance	673	BRAF	OMIM:613707
HP:0006610	Wide intermamillary distance	673	BRAF	OMIM:163950
HP:0006610	Wide intermamillary distance	3911	LAMA5	OMIM:620076
HP:0006610	Wide intermamillary distance	139285	AMER1	OMIM:300373
HP:0006610	Wide intermamillary distance	1376	CPT2	OMIM:608836
HP:0006610	Wide intermamillary distance	84231	TRAF7	OMIM:618164
HP:0006610	Wide intermamillary distance	200205	IBA57	OMIM:615330
HP:0006610	Wide intermamillary distance	7994	KAT6A	OMIM:616268
HP:0006610	Wide intermamillary distance	284058	KANSL1	OMIM:610443
HP:0006610	Wide intermamillary distance	22800	RRAS2	ORPHA:648
HP:0006610	Wide intermamillary distance	867	CBL	ORPHA:648
HP:0006610	Wide intermamillary distance	867	CBL	OMIM:613563
HP:0006610	Wide intermamillary distance	8216	LZTR1	ORPHA:648
HP:0006610	Wide intermamillary distance	8216	LZTR1	OMIM:605275
HP:0006610	Wide intermamillary distance	6016	RIT1	ORPHA:648
HP:0006610	Wide intermamillary distance	6237	RRAS	ORPHA:648
HP:0006610	Wide intermamillary distance	5894	RAF1	ORPHA:648
HP:0006610	Wide intermamillary distance	22808	MRAS	ORPHA:648
HP:0006610	Wide intermamillary distance	200734	SPRED2	ORPHA:648
HP:0006610	Wide intermamillary distance	4893	NRAS	ORPHA:648
HP:0006610	Wide intermamillary distance	6654	SOS1	ORPHA:648
HP:0006610	Wide intermamillary distance	6654	SOS1	OMIM:610733
HP:0006610	Wide intermamillary distance	6655	SOS2	ORPHA:648
HP:0006610	Wide intermamillary distance	5781	PTPN11	ORPHA:648
HP:0006610	Wide intermamillary distance	5781	PTPN11	OMIM:163950
HP:0006610	Wide intermamillary distance	5922	RASA2	ORPHA:648
HP:0006610	Wide intermamillary distance	139886	SPIN4	OMIM:301114
HP:0006610	Wide intermamillary distance	171023	ASXL1	OMIM:605039
HP:0006610	Wide intermamillary distance	8621	CDK13	OMIM:617360
HP:0006610	Wide intermamillary distance	54101	RIPK4	OMIM:263650
HP:0006610	Wide intermamillary distance	9181	ARHGEF2	OMIM:617523
HP:0006610	Wide intermamillary distance	29968	PSAT1	OMIM:616038
HP:0006610	Wide intermamillary distance	6736	SRY	ORPHA:1772
HP:0006610	Wide intermamillary distance	27152	INTU	OMIM:617925
HP:0006610	Wide intermamillary distance	2719	GPC3	OMIM:312870
HP:0006610	Wide intermamillary distance	2239	GPC4	OMIM:312870
HP:0006610	Wide intermamillary distance	55770	EXOC2	OMIM:619306
HP:0006610	Wide intermamillary distance	2263	FGFR2	OMIM:101200
HP:0006610	Wide intermamillary distance	5604	MAP2K1	OMIM:163950
HP:0001555	Asymmetry of the thorax	8925	HERC1	ORPHA:457359
HP:0001555	Asymmetry of the thorax	9578	CDC42BPB	OMIM:619841
HP:0001555	Asymmetry of the thorax	6023	RMRP	OMIM:250250
HP:0001555	Asymmetry of the thorax	23184	MESD	OMIM:618644
HP:0001555	Asymmetry of the thorax	84168	ANTXR1	ORPHA:2067
HP:0001555	Asymmetry of the thorax	139285	AMER1	ORPHA:2780
HP:0001555	Asymmetry of the thorax	26834	RNU4-2	OMIM:620851
HP:0001555	Asymmetry of the thorax	207	AKT1	ORPHA:744
HP:0001555	Asymmetry of the thorax	3481	IGF2	ORPHA:2128
HP:0001555	Asymmetry of the thorax	10984	KCNQ1OT1	ORPHA:2128
HP:0001555	Asymmetry of the thorax	283120	H19	ORPHA:2128
HP:0200021	Down-sloping shoulders	1146	CHRNG	OMIM:265000
HP:0200021	Down-sloping shoulders	1947	EFNB1	OMIM:304110
HP:0200021	Down-sloping shoulders	1947	EFNB1	ORPHA:1520
HP:0200021	Down-sloping shoulders	538	ATP7A	ORPHA:198
HP:0200021	Down-sloping shoulders	6910	TBX5	ORPHA:392
HP:0200021	Down-sloping shoulders	6910	TBX5	OMIM:142900
HP:0200021	Down-sloping shoulders	54880	BCOR	OMIM:309800
HP:0200021	Down-sloping shoulders	8260	NAA10	OMIM:309800
HP:0200021	Down-sloping shoulders	63895	PIEZO2	OMIM:114300
HP:0200021	Down-sloping shoulders	83932	SPRTN	OMIM:616200
HP:0200021	Down-sloping shoulders	92255	LMBRD2	OMIM:619694
HP:0200021	Down-sloping shoulders	10265	IRX5	OMIM:611174
HP:0200021	Down-sloping shoulders	51633	OTUD6B	OMIM:617452
HP:0200021	Down-sloping shoulders	59341	TRPV4	OMIM:606071
HP:0200021	Down-sloping shoulders	23476	BRD4	OMIM:620568
HP:0200021	Down-sloping shoulders	6804	STX1A	ORPHA:904
HP:0200021	Down-sloping shoulders	7461	CLIP2	ORPHA:904
HP:0200021	Down-sloping shoulders	84277	DNAJC30	ORPHA:904
HP:0200021	Down-sloping shoulders	8468	FKBP6	ORPHA:904
HP:0200021	Down-sloping shoulders	5982	RFC2	ORPHA:904
HP:0200021	Down-sloping shoulders	2969	GTF2I	ORPHA:904
HP:0200021	Down-sloping shoulders	3984	LIMK1	ORPHA:904
HP:0200021	Down-sloping shoulders	9569	GTF2IRD1	ORPHA:904
HP:0200021	Down-sloping shoulders	155382	VPS37D	ORPHA:904
HP:0200021	Down-sloping shoulders	155368	METTL27	ORPHA:904
HP:0200021	Down-sloping shoulders	114049	BUD23	ORPHA:904
HP:0200021	Down-sloping shoulders	7458	EIF4H	ORPHA:904
HP:0200021	Down-sloping shoulders	84163	GTF2IRD2	ORPHA:904
HP:0200021	Down-sloping shoulders	26608	TBL2	ORPHA:904
HP:0200021	Down-sloping shoulders	653361	NCF1	ORPHA:904
HP:0200021	Down-sloping shoulders	135886	TMEM270	ORPHA:904
HP:0200021	Down-sloping shoulders	9031	BAZ1B	ORPHA:904
HP:0200021	Down-sloping shoulders	2006	ELN	ORPHA:904
HP:0200021	Down-sloping shoulders	2006	ELN	OMIM:194050
HP:0200021	Down-sloping shoulders	4000	LMNA	OMIM:212112
HP:0200021	Down-sloping shoulders	4000	LMNA	OMIM:248370
HP:0200021	Down-sloping shoulders	2138	EYA1	ORPHA:2792
HP:0200021	Down-sloping shoulders	2138	EYA1	OMIM:166780
HP:0200021	Down-sloping shoulders	5075	PAX1	ORPHA:2792
HP:0200021	Down-sloping shoulders	5075	PAX1	OMIM:615560
HP:0200021	Down-sloping shoulders	9896	FIG4	OMIM:216340
HP:0200021	Down-sloping shoulders	860	RUNX2	ORPHA:1452
HP:0200021	Down-sloping shoulders	55636	CHD7	OMIM:214800
HP:0200021	Down-sloping shoulders	8450	CUL4B	ORPHA:85293
HP:0200021	Down-sloping shoulders	84919	PPP1R15B	OMIM:616817
HP:0200021	Down-sloping shoulders	84919	PPP1R15B	ORPHA:391408
HP:0200021	Down-sloping shoulders	93587	TRMT10A	ORPHA:391408
HP:0200021	Down-sloping shoulders	51085	MLXIPL	OMIM:194050
HP:0200021	Down-sloping shoulders	865	CBFB	OMIM:620099
HP:0200021	Down-sloping shoulders	5727	PTCH1	OMIM:109400
HP:0200021	Down-sloping shoulders	2556	GABRA3	OMIM:301091
HP:0001560	Abnormality of the amniotic fluid	55163	PNPO	ORPHA:79096
HP:0001560	Abnormality of the amniotic fluid	3030	HADHA	OMIM:609015
HP:0001560	Abnormality of the amniotic fluid	7390	UROS	ORPHA:79277
HP:0001560	Abnormality of the amniotic fluid	2623	GATA1	ORPHA:79277
HP:0001560	Abnormality of the amniotic fluid	56052	ALG1	OMIM:608540
HP:0001560	Abnormality of the amniotic fluid	5373	PMM2	OMIM:212065
HP:0001560	Abnormality of the amniotic fluid	7389	UROD	ORPHA:95159
HP:0001560	Abnormality of the amniotic fluid	2733	GLE1	OMIM:253310
HP:0001560	Abnormality of the amniotic fluid	2137	EXTL3	ORPHA:508533
HP:0001560	Abnormality of the amniotic fluid	2137	EXTL3	OMIM:617425
HP:0001560	Abnormality of the amniotic fluid	83483	PLVAP	OMIM:618183
HP:0001560	Abnormality of the amniotic fluid	2294	FOXF1	OMIM:265380
HP:0001560	Abnormality of the amniotic fluid	8036	SHOC2	OMIM:607721
HP:0001560	Abnormality of the amniotic fluid	3763	KCNJ6	ORPHA:435628
HP:0001560	Abnormality of the amniotic fluid	3763	KCNJ6	OMIM:614098
HP:0001560	Abnormality of the amniotic fluid	4621	MYH3	ORPHA:2053
HP:0001560	Abnormality of the amniotic fluid	4621	MYH3	OMIM:193700
HP:0001560	Abnormality of the amniotic fluid	259232	NALCN	ORPHA:2053
HP:0001560	Abnormality of the amniotic fluid	199857	ALG14	OMIM:619036
HP:0001560	Abnormality of the amniotic fluid	104	ADARB1	OMIM:618862
HP:0001560	Abnormality of the amniotic fluid	10046	MAMLD1	ORPHA:456328
HP:0001560	Abnormality of the amniotic fluid	4534	MTM1	ORPHA:456328
HP:0001560	Abnormality of the amniotic fluid	4534	MTM1	ORPHA:596
HP:0001560	Abnormality of the amniotic fluid	4534	MTM1	OMIM:310400
HP:0001560	Abnormality of the amniotic fluid	2304	FOXE1	OMIM:241850
HP:0001560	Abnormality of the amniotic fluid	2304	FOXE1	ORPHA:1226
HP:0001560	Abnormality of the amniotic fluid	8506	CNTNAP1	OMIM:618186
HP:0001560	Abnormality of the amniotic fluid	8506	CNTNAP1	OMIM:616286
HP:0001560	Abnormality of the amniotic fluid	5339	PLEC	ORPHA:158684
HP:0001560	Abnormality of the amniotic fluid	5339	PLEC	OMIM:226730
HP:0001560	Abnormality of the amniotic fluid	5339	PLEC	OMIM:612138
HP:0001560	Abnormality of the amniotic fluid	3691	ITGB4	ORPHA:158684
HP:0001560	Abnormality of the amniotic fluid	3691	ITGB4	ORPHA:79403
HP:0001560	Abnormality of the amniotic fluid	3691	ITGB4	OMIM:226730
HP:0001560	Abnormality of the amniotic fluid	55503	TRPV6	OMIM:618188
HP:0001560	Abnormality of the amniotic fluid	23334	SZT2	OMIM:615476
HP:0001560	Abnormality of the amniotic fluid	6016	RIT1	OMIM:615355
HP:0001560	Abnormality of the amniotic fluid	23556	PIGN	ORPHA:2059
HP:0001560	Abnormality of the amniotic fluid	23556	PIGN	OMIM:614080
HP:0001560	Abnormality of the amniotic fluid	673	BRAF	OMIM:115150
HP:0001560	Abnormality of the amniotic fluid	57539	WDR35	OMIM:613610
HP:0001560	Abnormality of the amniotic fluid	5894	RAF1	OMIM:611553
HP:0001560	Abnormality of the amniotic fluid	4897	NRCAM	OMIM:619833
HP:0001560	Abnormality of the amniotic fluid	145173	B3GLCT	ORPHA:709
HP:0001560	Abnormality of the amniotic fluid	145173	B3GLCT	OMIM:261540
HP:0001560	Abnormality of the amniotic fluid	22800	RRAS2	OMIM:618624
HP:0001560	Abnormality of the amniotic fluid	8854	ALDH1A2	OMIM:620025
HP:0001560	Abnormality of the amniotic fluid	3636	INPPL1	ORPHA:3144
HP:0001560	Abnormality of the amniotic fluid	3636	INPPL1	OMIM:258480
HP:0001560	Abnormality of the amniotic fluid	23169	SLC35D1	ORPHA:3144
HP:0001560	Abnormality of the amniotic fluid	23169	SLC35D1	OMIM:269250
HP:0001560	Abnormality of the amniotic fluid	2261	FGFR3	ORPHA:93274
HP:0001560	Abnormality of the amniotic fluid	2261	FGFR3	ORPHA:1860
HP:0001560	Abnormality of the amniotic fluid	2261	FGFR3	OMIM:100800
HP:0001560	Abnormality of the amniotic fluid	2261	FGFR3	OMIM:187601
HP:0001560	Abnormality of the amniotic fluid	2261	FGFR3	OMIM:187600
HP:0001560	Abnormality of the amniotic fluid	126792	B3GALT6	OMIM:609465
HP:0001560	Abnormality of the amniotic fluid	2629	GBA1	OMIM:608013
HP:0001560	Abnormality of the amniotic fluid	3655	ITGA6	ORPHA:79403
HP:0001560	Abnormality of the amniotic fluid	4487	MSX1	ORPHA:199302
HP:0001560	Abnormality of the amniotic fluid	5818	NECTIN1	ORPHA:199302
HP:0001560	Abnormality of the amniotic fluid	8626	TP63	ORPHA:199302
HP:0001560	Abnormality of the amniotic fluid	3664	IRF6	ORPHA:199302
HP:0001560	Abnormality of the amniotic fluid	2317	FLNB	ORPHA:56305
HP:0001560	Abnormality of the amniotic fluid	2317	FLNB	ORPHA:1190
HP:0001560	Abnormality of the amniotic fluid	2317	FLNB	OMIM:108720
HP:0001560	Abnormality of the amniotic fluid	2317	FLNB	ORPHA:1263
HP:0001560	Abnormality of the amniotic fluid	1836	SLC26A2	ORPHA:56304
HP:0001560	Abnormality of the amniotic fluid	1836	SLC26A2	OMIM:600972
HP:0001560	Abnormality of the amniotic fluid	1836	SLC26A2	ORPHA:93298
HP:0001560	Abnormality of the amniotic fluid	215	ABCD1	ORPHA:388
HP:0001560	Abnormality of the amniotic fluid	5979	RET	ORPHA:388
HP:0001560	Abnormality of the amniotic fluid	5979	RET	ORPHA:99803
HP:0001560	Abnormality of the amniotic fluid	2668	GDNF	ORPHA:388
HP:0001560	Abnormality of the amniotic fluid	6608	SMO	ORPHA:388
HP:0001560	Abnormality of the amniotic fluid	1889	ECE1	ORPHA:388
HP:0001560	Abnormality of the amniotic fluid	6720	SREBF1	ORPHA:388
HP:0001560	Abnormality of the amniotic fluid	1908	EDN3	ORPHA:388
HP:0001560	Abnormality of the amniotic fluid	223117	SEMA3D	ORPHA:388
HP:0001560	Abnormality of the amniotic fluid	538	ATP7A	ORPHA:388
HP:0001560	Abnormality of the amniotic fluid	1910	EDNRB	ORPHA:388
HP:0001560	Abnormality of the amniotic fluid	10512	SEMA3C	ORPHA:388
HP:0001560	Abnormality of the amniotic fluid	2064	ERBB2	ORPHA:388
HP:0001560	Abnormality of the amniotic fluid	2065	ERBB3	ORPHA:388
HP:0001560	Abnormality of the amniotic fluid	2065	ERBB3	OMIM:607598
HP:0001560	Abnormality of the amniotic fluid	4902	NRTN	ORPHA:388
HP:0001560	Abnormality of the amniotic fluid	58	ACTA1	ORPHA:171436
HP:0001560	Abnormality of the amniotic fluid	58	ACTA1	ORPHA:171433
HP:0001560	Abnormality of the amniotic fluid	58	ACTA1	ORPHA:171430
HP:0001560	Abnormality of the amniotic fluid	58	ACTA1	ORPHA:2020
HP:0001560	Abnormality of the amniotic fluid	58	ACTA1	OMIM:161800
HP:0001560	Abnormality of the amniotic fluid	58	ACTA1	ORPHA:171439
HP:0001560	Abnormality of the amniotic fluid	7169	TPM2	ORPHA:171436
HP:0001560	Abnormality of the amniotic fluid	7169	TPM2	ORPHA:2020
HP:0001560	Abnormality of the amniotic fluid	7169	TPM2	ORPHA:171439
HP:0001560	Abnormality of the amniotic fluid	4703	NEB	ORPHA:171436
HP:0001560	Abnormality of the amniotic fluid	4703	NEB	ORPHA:171433
HP:0001560	Abnormality of the amniotic fluid	4703	NEB	ORPHA:171430
HP:0001560	Abnormality of the amniotic fluid	4703	NEB	ORPHA:171439
HP:0001560	Abnormality of the amniotic fluid	4703	NEB	OMIM:256030
HP:0001560	Abnormality of the amniotic fluid	4703	NEB	OMIM:619334
HP:0001560	Abnormality of the amniotic fluid	10324	KLHL41	ORPHA:171436
HP:0001560	Abnormality of the amniotic fluid	10324	KLHL41	ORPHA:171433
HP:0001560	Abnormality of the amniotic fluid	10324	KLHL41	ORPHA:171430
HP:0001560	Abnormality of the amniotic fluid	10324	KLHL41	OMIM:615731
HP:0001560	Abnormality of the amniotic fluid	10324	KLHL41	ORPHA:171439
HP:0001560	Abnormality of the amniotic fluid	56203	LMOD3	ORPHA:171436
HP:0001560	Abnormality of the amniotic fluid	56203	LMOD3	ORPHA:171430
HP:0001560	Abnormality of the amniotic fluid	56203	LMOD3	OMIM:616165
HP:0001560	Abnormality of the amniotic fluid	1073	CFL2	ORPHA:171436
HP:0001560	Abnormality of the amniotic fluid	51112	TRAPPC12	ORPHA:500144
HP:0001560	Abnormality of the amniotic fluid	249	ALPL	OMIM:241500
HP:0001560	Abnormality of the amniotic fluid	9578	CDC42BPB	OMIM:619841
HP:0001560	Abnormality of the amniotic fluid	7170	TPM3	ORPHA:171433
HP:0001560	Abnormality of the amniotic fluid	7170	TPM3	ORPHA:2020
HP:0001560	Abnormality of the amniotic fluid	7170	TPM3	ORPHA:171439
HP:0001560	Abnormality of the amniotic fluid	80816	ASXL3	OMIM:615485
HP:0001560	Abnormality of the amniotic fluid	131377	KLHL40	ORPHA:171430
HP:0001560	Abnormality of the amniotic fluid	131377	KLHL40	OMIM:615348
HP:0001560	Abnormality of the amniotic fluid	1785	DNM2	OMIM:615368
HP:0001560	Abnormality of the amniotic fluid	1785	DNM2	ORPHA:169189
HP:0001560	Abnormality of the amniotic fluid	1841	DTYMK	OMIM:619847
HP:0001560	Abnormality of the amniotic fluid	22858	CILK1	OMIM:612651
HP:0001560	Abnormality of the amniotic fluid	477	ATP1A2	OMIM:619602
HP:0001560	Abnormality of the amniotic fluid	2132	EXT2	ORPHA:466926
HP:0001560	Abnormality of the amniotic fluid	6662	SOX9	OMIM:114290
HP:0001560	Abnormality of the amniotic fluid	6662	SOX9	ORPHA:718
HP:0001560	Abnormality of the amniotic fluid	1717	DHCR7	ORPHA:818
HP:0001560	Abnormality of the amniotic fluid	9200	HACD1	OMIM:619967
HP:0001560	Abnormality of the amniotic fluid	9200	HACD1	ORPHA:2020
HP:0001560	Abnormality of the amniotic fluid	429	ASCL1	ORPHA:99803
HP:0001560	Abnormality of the amniotic fluid	8929	PHOX2B	ORPHA:99803
HP:0001560	Abnormality of the amniotic fluid	55636	CHD7	ORPHA:138
HP:0001560	Abnormality of the amniotic fluid	55636	CHD7	OMIM:214800
HP:0001560	Abnormality of the amniotic fluid	9723	SEMA3E	ORPHA:138
HP:0001560	Abnormality of the amniotic fluid	2188	FANCF	OMIM:603467
HP:0001560	Abnormality of the amniotic fluid	7125	TNNC2	OMIM:620161
HP:0001560	Abnormality of the amniotic fluid	535	ATP6V0A1	OMIM:619971
HP:0001560	Abnormality of the amniotic fluid	83871	RAB34	OMIM:620718
HP:0001560	Abnormality of the amniotic fluid	1272	CNTN1	OMIM:612540
HP:0001560	Abnormality of the amniotic fluid	23522	KAT6B	OMIM:606170
HP:0001560	Abnormality of the amniotic fluid	23522	KAT6B	ORPHA:3047
HP:0001560	Abnormality of the amniotic fluid	6261	RYR1	OMIM:255320
HP:0001560	Abnormality of the amniotic fluid	6261	RYR1	ORPHA:169189
HP:0001560	Abnormality of the amniotic fluid	6261	RYR1	ORPHA:98905
HP:0001560	Abnormality of the amniotic fluid	10606	PAICS	OMIM:619859
HP:0001560	Abnormality of the amniotic fluid	55681	SCYL2	OMIM:618766
HP:0001560	Abnormality of the amniotic fluid	93627	TBCK	OMIM:616900
HP:0001560	Abnormality of the amniotic fluid	55107	ANO1	OMIM:620045
HP:0001560	Abnormality of the amniotic fluid	79087	ALG12	OMIM:607143
HP:0001560	Abnormality of the amniotic fluid	79087	ALG12	ORPHA:79324
HP:0001560	Abnormality of the amniotic fluid	283989	TSEN54	ORPHA:166063
HP:0001560	Abnormality of the amniotic fluid	283989	TSEN54	OMIM:277470
HP:0001560	Abnormality of the amniotic fluid	283989	TSEN54	OMIM:225753
HP:0001560	Abnormality of the amniotic fluid	4524	MTHFR	ORPHA:563612
HP:0001560	Abnormality of the amniotic fluid	57216	VANGL2	ORPHA:563612
HP:0001560	Abnormality of the amniotic fluid	9896	FIG4	ORPHA:3472
HP:0001560	Abnormality of the amniotic fluid	9896	FIG4	OMIM:216340
HP:0001560	Abnormality of the amniotic fluid	55697	VAC14	ORPHA:3472
HP:0001560	Abnormality of the amniotic fluid	57190	SELENON	ORPHA:2020
HP:0001560	Abnormality of the amniotic fluid	4633	MYL2	ORPHA:2020
HP:0001560	Abnormality of the amniotic fluid	3679	ITGA7	ORPHA:2020
HP:0001560	Abnormality of the amniotic fluid	51776	MAP3K20	ORPHA:2020
HP:0001560	Abnormality of the amniotic fluid	9184	BUB3	ORPHA:1052
HP:0001560	Abnormality of the amniotic fluid	699	BUB1	ORPHA:1052
HP:0001560	Abnormality of the amniotic fluid	9702	CEP57	ORPHA:1052
HP:0001560	Abnormality of the amniotic fluid	9319	TRIP13	ORPHA:1052
HP:0001560	Abnormality of the amniotic fluid	701	BUB1B	ORPHA:1052
HP:0001560	Abnormality of the amniotic fluid	10203	CALCRL	OMIM:618773
HP:0001560	Abnormality of the amniotic fluid	4632	MYL1	OMIM:618414
HP:0001560	Abnormality of the amniotic fluid	200734	SPRED2	OMIM:619745
HP:0001560	Abnormality of the amniotic fluid	11193	WBP4	OMIM:620852
HP:0001560	Abnormality of the amniotic fluid	25942	SIN3A	OMIM:613406
HP:0001560	Abnormality of the amniotic fluid	3265	HRAS	OMIM:218040
HP:0001560	Abnormality of the amniotic fluid	3265	HRAS	ORPHA:3071
HP:0001560	Abnormality of the amniotic fluid	3039	HBA1	ORPHA:163596
HP:0001560	Abnormality of the amniotic fluid	3040	HBA2	ORPHA:163596
HP:0001560	Abnormality of the amniotic fluid	26227	PHGDH	OMIM:256520
HP:0001560	Abnormality of the amniotic fluid	129563	DIS3L2	OMIM:267000
HP:0001560	Abnormality of the amniotic fluid	4953	ODC1	OMIM:619075
HP:0001560	Abnormality of the amniotic fluid	4953	ODC1	ORPHA:544488
HP:0001560	Abnormality of the amniotic fluid	7809	BSND	ORPHA:89938
HP:0001560	Abnormality of the amniotic fluid	7809	BSND	OMIM:602522
HP:0001560	Abnormality of the amniotic fluid	1188	CLCNKB	ORPHA:89938
HP:0001560	Abnormality of the amniotic fluid	1188	CLCNKB	OMIM:613090
HP:0001560	Abnormality of the amniotic fluid	1187	CLCNKA	ORPHA:89938
HP:0001560	Abnormality of the amniotic fluid	1187	CLCNKA	OMIM:613090
HP:0001560	Abnormality of the amniotic fluid	1186	CLCN7	OMIM:618541
HP:0001560	Abnormality of the amniotic fluid	57217	TTC7A	OMIM:243150
HP:0001560	Abnormality of the amniotic fluid	57217	TTC7A	ORPHA:2300
HP:0001560	Abnormality of the amniotic fluid	57217	TTC7A	ORPHA:436252
HP:0001560	Abnormality of the amniotic fluid	1280	COL2A1	OMIM:151210
HP:0001560	Abnormality of the amniotic fluid	1280	COL2A1	ORPHA:93316
HP:0001560	Abnormality of the amniotic fluid	1280	COL2A1	ORPHA:85166
HP:0001560	Abnormality of the amniotic fluid	1280	COL2A1	OMIM:200610
HP:0001560	Abnormality of the amniotic fluid	4593	MUSK	OMIM:208150
HP:0001560	Abnormality of the amniotic fluid	4593	MUSK	ORPHA:994
HP:0001560	Abnormality of the amniotic fluid	57498	KIDINS220	ORPHA:521390
HP:0001560	Abnormality of the amniotic fluid	57498	KIDINS220	OMIM:617296
HP:0001560	Abnormality of the amniotic fluid	57680	CHD8	OMIM:615032
HP:0001560	Abnormality of the amniotic fluid	56006	SMG9	OMIM:616920
HP:0001560	Abnormality of the amniotic fluid	6135	RPL11	OMIM:612562
HP:0001560	Abnormality of the amniotic fluid	100128927	ZBTB42	OMIM:616248
HP:0001560	Abnormality of the amniotic fluid	9091	PIGQ	OMIM:618548
HP:0001560	Abnormality of the amniotic fluid	6134	RPL10	ORPHA:459070
HP:0001560	Abnormality of the amniotic fluid	6134	RPL10	OMIM:300998
HP:0001560	Abnormality of the amniotic fluid	23345	SYNE1	ORPHA:319332
HP:0001560	Abnormality of the amniotic fluid	54499	TMCO1	OMIM:213980
HP:0001560	Abnormality of the amniotic fluid	54499	TMCO1	ORPHA:1394
HP:0001560	Abnormality of the amniotic fluid	157570	ESCO2	ORPHA:3103
HP:0001560	Abnormality of the amniotic fluid	157570	ESCO2	OMIM:268300
HP:0001560	Abnormality of the amniotic fluid	8085	KMT2D	OMIM:620186
HP:0001560	Abnormality of the amniotic fluid	8085	KMT2D	OMIM:147920
HP:0001560	Abnormality of the amniotic fluid	1859	DYRK1A	ORPHA:464311
HP:0001560	Abnormality of the amniotic fluid	84992	PIGY	OMIM:616809
HP:0001560	Abnormality of the amniotic fluid	51611	DPH5	OMIM:620070
HP:0001560	Abnormality of the amniotic fluid	554	AVPR2	ORPHA:223
HP:0001560	Abnormality of the amniotic fluid	359	AQP2	ORPHA:223
HP:0001560	Abnormality of the amniotic fluid	5605	MAP2K2	OMIM:615280
HP:0001560	Abnormality of the amniotic fluid	7547	ZIC3	OMIM:314390
HP:0001560	Abnormality of the amniotic fluid	7547	ZIC3	OMIM:306955
HP:0001560	Abnormality of the amniotic fluid	2187	FANCB	OMIM:314390
HP:0001560	Abnormality of the amniotic fluid	2187	FANCB	ORPHA:3412
HP:0001560	Abnormality of the amniotic fluid	59336	PRDM13	OMIM:619761
HP:0001560	Abnormality of the amniotic fluid	3845	KRAS	ORPHA:3339
HP:0001560	Abnormality of the amniotic fluid	3845	KRAS	OMIM:609942
HP:0001560	Abnormality of the amniotic fluid	1811	SLC26A3	OMIM:214700
HP:0001560	Abnormality of the amniotic fluid	25802	LMOD1	ORPHA:2241
HP:0001560	Abnormality of the amniotic fluid	25802	LMOD1	OMIM:619362
HP:0001560	Abnormality of the amniotic fluid	4629	MYH11	ORPHA:2241
HP:0001560	Abnormality of the amniotic fluid	72	ACTG2	ORPHA:2241
HP:0001560	Abnormality of the amniotic fluid	72	ACTG2	OMIM:155310
HP:0001560	Abnormality of the amniotic fluid	4638	MYLK	ORPHA:2241
HP:0001560	Abnormality of the amniotic fluid	7841	MOGS	ORPHA:79330
HP:0001560	Abnormality of the amniotic fluid	388015	RTL1	ORPHA:96334
HP:0001560	Abnormality of the amniotic fluid	388015	RTL1	ORPHA:254534
HP:0001560	Abnormality of the amniotic fluid	388015	RTL1	ORPHA:254528
HP:0001560	Abnormality of the amniotic fluid	8788	DLK1	ORPHA:96334
HP:0001560	Abnormality of the amniotic fluid	8788	DLK1	ORPHA:254534
HP:0001560	Abnormality of the amniotic fluid	8788	DLK1	ORPHA:254528
HP:0001560	Abnormality of the amniotic fluid	55384	MEG3	ORPHA:96334
HP:0001560	Abnormality of the amniotic fluid	55384	MEG3	ORPHA:254534
HP:0001560	Abnormality of the amniotic fluid	55384	MEG3	ORPHA:254528
HP:0001560	Abnormality of the amniotic fluid	2271	FH	OMIM:606812
HP:0001560	Abnormality of the amniotic fluid	3930	LBR	OMIM:215140
HP:0001560	Abnormality of the amniotic fluid	2239	GPC4	ORPHA:373
HP:0001560	Abnormality of the amniotic fluid	2239	GPC4	OMIM:312870
HP:0001560	Abnormality of the amniotic fluid	2719	GPC3	ORPHA:373
HP:0001560	Abnormality of the amniotic fluid	2719	GPC3	OMIM:312870
HP:0001560	Abnormality of the amniotic fluid	79989	IFT56	OMIM:619534
HP:0001560	Abnormality of the amniotic fluid	10848	PPP1R13L	OMIM:620519
HP:0001560	Abnormality of the amniotic fluid	9652	SKIC3	OMIM:222470
HP:0001560	Abnormality of the amniotic fluid	64321	SOX17	OMIM:613674
HP:0001560	Abnormality of the amniotic fluid	84665	MYPN	ORPHA:171439
HP:0001560	Abnormality of the amniotic fluid	390594	KBTBD13	ORPHA:171439
HP:0001560	Abnormality of the amniotic fluid	9321	TRIP11	ORPHA:93299
HP:0001560	Abnormality of the amniotic fluid	9321	TRIP11	OMIM:200600
HP:0001560	Abnormality of the amniotic fluid	5048	PAFAH1B1	ORPHA:95232
HP:0001560	Abnormality of the amniotic fluid	5048	PAFAH1B1	ORPHA:531
HP:0001560	Abnormality of the amniotic fluid	3339	HSPG2	ORPHA:800
HP:0001560	Abnormality of the amniotic fluid	286204	CRB2	OMIM:219730
HP:0001560	Abnormality of the amniotic fluid	10682	EBP	OMIM:302960
HP:0001560	Abnormality of the amniotic fluid	6567	SLC16A2	ORPHA:59
HP:0001560	Abnormality of the amniotic fluid	171023	ASXL1	OMIM:605039
HP:0001560	Abnormality of the amniotic fluid	81570	CLPB	OMIM:616271
HP:0001560	Abnormality of the amniotic fluid	91137	SLC25A46	OMIM:619303
HP:0001560	Abnormality of the amniotic fluid	8621	CDK13	OMIM:617360
HP:0001560	Abnormality of the amniotic fluid	867	CBL	OMIM:613563
HP:0001560	Abnormality of the amniotic fluid	29968	PSAT1	OMIM:616038
HP:0001560	Abnormality of the amniotic fluid	1134	CHRNA1	OMIM:253290
HP:0001560	Abnormality of the amniotic fluid	1146	CHRNG	OMIM:253290
HP:0001560	Abnormality of the amniotic fluid	1144	CHRND	OMIM:253290
HP:0001560	Abnormality of the amniotic fluid	55112	DYNC2I1	OMIM:615503
HP:0001560	Abnormality of the amniotic fluid	8216	LZTR1	OMIM:605275
HP:0001560	Abnormality of the amniotic fluid	6654	SOS1	OMIM:610733
HP:0001560	Abnormality of the amniotic fluid	78987	CRELD1	OMIM:620771
HP:0001560	Abnormality of the amniotic fluid	2263	FGFR2	OMIM:101200
HP:0001560	Abnormality of the amniotic fluid	4054	LTBP3	OMIM:617809
HP:0001560	Abnormality of the amniotic fluid	9949	AMMECR1	OMIM:300990
HP:0001560	Abnormality of the amniotic fluid	9361	LONP1	OMIM:600373
HP:0001560	Abnormality of the amniotic fluid	55906	ZC4H2	OMIM:301041
HP:0001560	Abnormality of the amniotic fluid	112	ADCY6	OMIM:616287
HP:0001560	Abnormality of the amniotic fluid	9780	PIEZO1	OMIM:616843
HP:0001560	Abnormality of the amniotic fluid	2632	GBE1	OMIM:232500
HP:0001560	Abnormality of the amniotic fluid	89891	DYNC2I2	OMIM:615633
HP:0001560	Abnormality of the amniotic fluid	5396	PRRX1	OMIM:202650
HP:0001560	Abnormality of the amniotic fluid	5396	PRRX1	ORPHA:990
HP:0001560	Abnormality of the amniotic fluid	92335	STRADA	ORPHA:500533
HP:0001560	Abnormality of the amniotic fluid	92335	STRADA	OMIM:611087
HP:0001560	Abnormality of the amniotic fluid	6334	SCN8A	OMIM:614306
HP:0001560	Abnormality of the amniotic fluid	8818	DPM2	ORPHA:329178
HP:0001560	Abnormality of the amniotic fluid	7473	WNT3	ORPHA:3301
HP:0001560	Abnormality of the amniotic fluid	340419	RSPO2	ORPHA:3301
HP:0001560	Abnormality of the amniotic fluid	9496	TBX4	ORPHA:3301
HP:0001560	Abnormality of the amniotic fluid	274	BIN1	ORPHA:169189
HP:0001560	Abnormality of the amniotic fluid	64419	MTMR14	ORPHA:169189
HP:0001560	Abnormality of the amniotic fluid	4618	MYF6	ORPHA:169189
HP:0001560	Abnormality of the amniotic fluid	5745	PTH1R	OMIM:215045
HP:0001560	Abnormality of the amniotic fluid	5745	PTH1R	ORPHA:50945
HP:0001560	Abnormality of the amniotic fluid	100033413	SNORD116-1	OMIM:176270
HP:0001560	Abnormality of the amniotic fluid	8924	HERC2	OMIM:176270
HP:0001560	Abnormality of the amniotic fluid	23742	NPAP1	OMIM:176270
HP:0001560	Abnormality of the amniotic fluid	338433	SNORD115-1	OMIM:176270
HP:0001560	Abnormality of the amniotic fluid	54551	MAGEL2	OMIM:176270
HP:0001560	Abnormality of the amniotic fluid	54551	MAGEL2	ORPHA:994
HP:0001560	Abnormality of the amniotic fluid	7681	MKRN3	OMIM:176270
HP:0001560	Abnormality of the amniotic fluid	145624	PWAR1	OMIM:176270
HP:0001560	Abnormality of the amniotic fluid	3653	IPW	OMIM:176270
HP:0001560	Abnormality of the amniotic fluid	791114	PWRN1	OMIM:176270
HP:0001560	Abnormality of the amniotic fluid	55593	OTUD5	OMIM:301056
HP:0001560	Abnormality of the amniotic fluid	10999	SLC27A4	OMIM:608649
HP:0001560	Abnormality of the amniotic fluid	6647	SOD1	OMIM:618598
HP:0001560	Abnormality of the amniotic fluid	113179	ADAT3	ORPHA:363528
HP:0001560	Abnormality of the amniotic fluid	473	RERE	OMIM:616975
HP:0001560	Abnormality of the amniotic fluid	4893	NRAS	OMIM:613224
HP:0001560	Abnormality of the amniotic fluid	2033	EP300	ORPHA:353284
HP:0001560	Abnormality of the amniotic fluid	2033	EP300	OMIM:180849
HP:0001560	Abnormality of the amniotic fluid	55033	FKBP14	OMIM:614557
HP:0001560	Abnormality of the amniotic fluid	6513	SLC2A1	OMIM:608885
HP:0001560	Abnormality of the amniotic fluid	1760	DMPK	OMIM:160900
HP:0001560	Abnormality of the amniotic fluid	1760	DMPK	ORPHA:589821
HP:0001560	Abnormality of the amniotic fluid	6904	TBCD	ORPHA:496641
HP:0001560	Abnormality of the amniotic fluid	10916	MAGED2	OMIM:300971
HP:0001560	Abnormality of the amniotic fluid	2530	FUT8	OMIM:618005
HP:0001560	Abnormality of the amniotic fluid	1956	EGFR	OMIM:616069
HP:0001560	Abnormality of the amniotic fluid	54496	PRMT7	OMIM:617157
HP:0001560	Abnormality of the amniotic fluid	7019	TFAM	OMIM:617156
HP:0001560	Abnormality of the amniotic fluid	3643	INSR	OMIM:246200
HP:0001560	Abnormality of the amniotic fluid	6550	SLC9A3	OMIM:616868
HP:0001560	Abnormality of the amniotic fluid	80746	TSEN2	OMIM:612389
HP:0001560	Abnormality of the amniotic fluid	51008	ASCC1	OMIM:616867
HP:0001560	Abnormality of the amniotic fluid	57211	ADGRG6	OMIM:616503
HP:0001560	Abnormality of the amniotic fluid	2917	GRM7	OMIM:618922
HP:0001560	Abnormality of the amniotic fluid	1312	COMT	ORPHA:567
HP:0001560	Abnormality of the amniotic fluid	221037	JMJD1C	ORPHA:567
HP:0001560	Abnormality of the amniotic fluid	2812	GP1BB	ORPHA:567
HP:0001560	Abnormality of the amniotic fluid	6239	RREB1	ORPHA:567
HP:0001560	Abnormality of the amniotic fluid	6899	TBX1	ORPHA:567
HP:0001560	Abnormality of the amniotic fluid	7290	HIRA	ORPHA:567
HP:0001560	Abnormality of the amniotic fluid	9632	SEC24C	ORPHA:567
HP:0001560	Abnormality of the amniotic fluid	7353	UFD1	ORPHA:567
HP:0001560	Abnormality of the amniotic fluid	421	ARVCF	ORPHA:567
HP:0001560	Abnormality of the amniotic fluid	8604	SLC25A12	OMIM:612949
HP:0001560	Abnormality of the amniotic fluid	7703	PCGF2	OMIM:618371
HP:0001560	Abnormality of the amniotic fluid	6557	SLC12A1	OMIM:601678
HP:0001560	Abnormality of the amniotic fluid	3758	KCNJ1	OMIM:241200
HP:0001560	Abnormality of the amniotic fluid	5277	PIGA	OMIM:300868
HP:0001560	Abnormality of the amniotic fluid	79796	ALG9	OMIM:263210
HP:0001560	Abnormality of the amniotic fluid	6007	RHD	OMIM:619462
HP:0001560	Abnormality of the amniotic fluid	4613	MYCN	OMIM:164280
HP:0001560	Abnormality of the amniotic fluid	10320	IKZF1	OMIM:616873
HP:0001560	Abnormality of the amniotic fluid	55210	ATAD3A	OMIM:618810
HP:0001560	Abnormality of the amniotic fluid	208	AKT2	OMIM:240900
HP:0001560	Abnormality of the amniotic fluid	124997	WDR81	OMIM:617967
HP:0001560	Abnormality of the amniotic fluid	55605	KIF21A	ORPHA:994
HP:0001560	Abnormality of the amniotic fluid	4927	NUP88	ORPHA:994
HP:0001560	Abnormality of the amniotic fluid	4927	NUP88	OMIM:618393
HP:0001560	Abnormality of the amniotic fluid	7846	TUBA1A	ORPHA:994
HP:0001560	Abnormality of the amniotic fluid	4654	MYOD1	ORPHA:994
HP:0001560	Abnormality of the amniotic fluid	4654	MYOD1	OMIM:618975
HP:0001560	Abnormality of the amniotic fluid	5913	RAPSN	ORPHA:994
HP:0001560	Abnormality of the amniotic fluid	6572	SLC18A3	ORPHA:994
HP:0001560	Abnormality of the amniotic fluid	6572	SLC18A3	ORPHA:98914
HP:0001560	Abnormality of the amniotic fluid	285489	DOK7	ORPHA:994
HP:0001560	Abnormality of the amniotic fluid	5015	OTX2	ORPHA:990
HP:0001560	Abnormality of the amniotic fluid	80347	COASY	OMIM:618266
HP:0001560	Abnormality of the amniotic fluid	6628	SNRPB	OMIM:117650
HP:0001560	Abnormality of the amniotic fluid	57003	CCDC47	OMIM:618268
HP:0001560	Abnormality of the amniotic fluid	5977	DPF2	OMIM:618027
HP:0001560	Abnormality of the amniotic fluid	10526	IPO8	OMIM:619472
HP:0001560	Abnormality of the amniotic fluid	5167	ENPP1	ORPHA:51608
HP:0001560	Abnormality of the amniotic fluid	368	ABCC6	ORPHA:51608
HP:0001560	Abnormality of the amniotic fluid	1387	CREBBP	OMIM:180849
HP:0001560	Abnormality of the amniotic fluid	1387	CREBBP	ORPHA:353277
HP:0001560	Abnormality of the amniotic fluid	1861	TOR1A	OMIM:618947
HP:0001560	Abnormality of the amniotic fluid	8405	SPOP	OMIM:618829
HP:0001560	Abnormality of the amniotic fluid	9935	MAFB	ORPHA:2774
HP:0001560	Abnormality of the amniotic fluid	526	ATP6V1B2	ORPHA:79500
HP:0001560	Abnormality of the amniotic fluid	57465	TBC1D24	ORPHA:79500
HP:0001560	Abnormality of the amniotic fluid	10653	SPINT2	OMIM:270420
HP:0001560	Abnormality of the amniotic fluid	1457	CSNK2A1	OMIM:617062
HP:0001560	Abnormality of the amniotic fluid	2077	ERF	OMIM:617180
HP:0001560	Abnormality of the amniotic fluid	8567	MADD	OMIM:619004
HP:0001560	Abnormality of the amniotic fluid	374879	ZNF699	OMIM:619488
HP:0001560	Abnormality of the amniotic fluid	55640	FLVCR2	OMIM:225790
HP:0001560	Abnormality of the amniotic fluid	9508	ADAMTS3	OMIM:618154
HP:0001560	Abnormality of the amniotic fluid	10293	TRAIP	OMIM:616777
HP:0001560	Abnormality of the amniotic fluid	202018	TAPT1	OMIM:616897
HP:0001560	Abnormality of the amniotic fluid	60482	SLC5A7	ORPHA:98914
HP:0001560	Abnormality of the amniotic fluid	4649	MYO9A	ORPHA:98914
HP:0001560	Abnormality of the amniotic fluid	1305	COL13A1	ORPHA:98914
HP:0001560	Abnormality of the amniotic fluid	1103	CHAT	ORPHA:98914
HP:0001560	Abnormality of the amniotic fluid	6576	SLC25A1	ORPHA:98914
HP:0001560	Abnormality of the amniotic fluid	6843	VAMP1	ORPHA:98914
HP:0001560	Abnormality of the amniotic fluid	375790	AGRN	ORPHA:98914
HP:0001560	Abnormality of the amniotic fluid	127833	SYT2	ORPHA:98914
HP:0001560	Abnormality of the amniotic fluid	6616	SNAP25	ORPHA:98914
HP:0001560	Abnormality of the amniotic fluid	5500	PPP1CB	OMIM:617506
HP:0001560	Abnormality of the amniotic fluid	7291	TWIST1	OMIM:617746
HP:0001560	Abnormality of the amniotic fluid	60	ACTB	OMIM:620475
HP:0001560	Abnormality of the amniotic fluid	6329	SCN4A	OMIM:620351
HP:0001560	Abnormality of the amniotic fluid	6329	SCN4A	OMIM:620369
HP:0001560	Abnormality of the amniotic fluid	139285	AMER1	OMIM:300373
HP:0001560	Abnormality of the amniotic fluid	3090	HIC1	ORPHA:531
HP:0001560	Abnormality of the amniotic fluid	7531	YWHAE	ORPHA:531
HP:0001560	Abnormality of the amniotic fluid	342035	GLDN	OMIM:617194
HP:0001560	Abnormality of the amniotic fluid	10577	NPC2	OMIM:607625
HP:0001560	Abnormality of the amniotic fluid	200205	IBA57	OMIM:615330
HP:0001560	Abnormality of the amniotic fluid	9786	KIAA0586	OMIM:616546
HP:0001560	Abnormality of the amniotic fluid	51780	KDM3B	OMIM:618846
HP:0001560	Abnormality of the amniotic fluid	8481	OFD1	OMIM:300804
HP:0001560	Abnormality of the amniotic fluid	4000	LMNA	ORPHA:1662
HP:0001560	Abnormality of the amniotic fluid	10269	ZMPSTE24	ORPHA:1662
HP:0001560	Abnormality of the amniotic fluid	10269	ZMPSTE24	OMIM:275210
HP:0001560	Abnormality of the amniotic fluid	5297	PI4KA	ORPHA:436252
HP:0001560	Abnormality of the amniotic fluid	55005	RMND1	OMIM:614922
HP:0001560	Abnormality of the amniotic fluid	3295	HSD17B4	OMIM:261515
HP:0001560	Abnormality of the amniotic fluid	10225	CD96	ORPHA:1308
HP:0001560	Abnormality of the amniotic fluid	1302	COL11A2	ORPHA:1427
HP:0001560	Abnormality of the amniotic fluid	219844	HYLS1	OMIM:236680
HP:0001560	Abnormality of the amniotic fluid	219844	HYLS1	ORPHA:2189
HP:0001560	Abnormality of the amniotic fluid	3239	HOXD13	ORPHA:887
HP:0001560	Abnormality of the amniotic fluid	23299	BICD2	OMIM:618291
HP:0001560	Abnormality of the amniotic fluid	27031	NPHP3	ORPHA:3032
HP:0001560	Abnormality of the amniotic fluid	51626	DYNC2LI1	OMIM:617088
HP:0001560	Abnormality of the amniotic fluid	115286	SLC25A26	OMIM:616794
HP:0001560	Abnormality of the amniotic fluid	7543	ZFX	OMIM:301118
HP:0001560	Abnormality of the amniotic fluid	221692	PHACTR1	OMIM:618298
HP:0001560	Abnormality of the amniotic fluid	374654	KIF7	ORPHA:2189
HP:0001560	Abnormality of the amniotic fluid	9373	PLAA	OMIM:617527
HP:0001560	Abnormality of the amniotic fluid	29969	MDFIC	OMIM:620014
HP:0001560	Abnormality of the amniotic fluid	7403	KDM6A	OMIM:147920
HP:0001560	Abnormality of the amniotic fluid	2737	GLI3	ORPHA:672
HP:0001560	Abnormality of the amniotic fluid	3651	PDX1	OMIM:260370
HP:0001560	Abnormality of the amniotic fluid	3376	IARS1	OMIM:617093
HP:0001560	Abnormality of the amniotic fluid	3376	IARS1	ORPHA:541423
HP:0001560	Abnormality of the amniotic fluid	5076	PAX2	ORPHA:97362
HP:0001560	Abnormality of the amniotic fluid	5087	PBX1	ORPHA:97362
HP:0001560	Abnormality of the amniotic fluid	5087	PBX1	OMIM:617641
HP:0001560	Abnormality of the amniotic fluid	29925	GMPPB	OMIM:615350
HP:0001560	Abnormality of the amniotic fluid	10466	COG5	ORPHA:263487
HP:0001560	Abnormality of the amniotic fluid	1832	DSP	ORPHA:158687
HP:0001560	Abnormality of the amniotic fluid	3728	JUP	ORPHA:158687
HP:0001560	Abnormality of the amniotic fluid	5393	EXOSC9	OMIM:618065
HP:0001560	Abnormality of the amniotic fluid	60529	ALX4	OMIM:613451
HP:0001560	Abnormality of the amniotic fluid	60529	ALX4	ORPHA:228390
HP:0001560	Abnormality of the amniotic fluid	7167	TPI1	OMIM:615512
HP:0001560	Abnormality of the amniotic fluid	100151683	RNU4ATAC	OMIM:210710
HP:0001560	Abnormality of the amniotic fluid	25821	MTO1	OMIM:614702
HP:0001560	Abnormality of the amniotic fluid	84942	WDR73	OMIM:251300
HP:0001560	Abnormality of the amniotic fluid	1131	CHRM3	ORPHA:2970
HP:0001560	Abnormality of the amniotic fluid	1131	CHRM3	OMIM:100100
HP:0001560	Abnormality of the amniotic fluid	1636	ACE	OMIM:267430
HP:0001560	Abnormality of the amniotic fluid	183	AGT	OMIM:267430
HP:0001560	Abnormality of the amniotic fluid	185	AGTR1	OMIM:267430
HP:0001560	Abnormality of the amniotic fluid	5972	REN	OMIM:267430
HP:0001560	Abnormality of the amniotic fluid	3481	IGF2	ORPHA:231144
HP:0001560	Abnormality of the amniotic fluid	3481	IGF2	OMIM:616489
HP:0001560	Abnormality of the amniotic fluid	3481	IGF2	ORPHA:397590
HP:0001560	Abnormality of the amniotic fluid	283120	H19	ORPHA:231144
HP:0001560	Abnormality of the amniotic fluid	91754	NEK9	OMIM:617022
HP:0001560	Abnormality of the amniotic fluid	54968	TMEM70	ORPHA:1194
HP:0001560	Abnormality of the amniotic fluid	54968	TMEM70	OMIM:614052
HP:0001560	Abnormality of the amniotic fluid	23395	LARS2	OMIM:617021
HP:0001560	Abnormality of the amniotic fluid	9871	SEC24D	OMIM:616294
HP:0001560	Abnormality of the amniotic fluid	3313	HSPA9	OMIM:616854
HP:0001560	Abnormality of the amniotic fluid	10229	COQ7	OMIM:616733
HP:0001560	Abnormality of the amniotic fluid	23426	GRIP1	OMIM:617667
HP:0001560	Abnormality of the amniotic fluid	341640	FREM2	OMIM:617666
HP:0001560	Abnormality of the amniotic fluid	30008	EFEMP2	OMIM:614437
HP:0001560	Abnormality of the amniotic fluid	55152	DALRD3	OMIM:618910
HP:0001560	Abnormality of the amniotic fluid	79158	GNPTAB	ORPHA:576
HP:0001560	Abnormality of the amniotic fluid	1725	DHPS	OMIM:618480
HP:0001560	Abnormality of the amniotic fluid	84987	COX14	OMIM:619053
HP:0001560	Abnormality of the amniotic fluid	84720	PIGO	ORPHA:247262
HP:0001560	Abnormality of the amniotic fluid	93210	PGAP3	ORPHA:247262
HP:0001560	Abnormality of the amniotic fluid	284098	PIGW	ORPHA:247262
HP:0001560	Abnormality of the amniotic fluid	27315	PGAP2	ORPHA:247262
HP:0001560	Abnormality of the amniotic fluid	55650	PIGV	ORPHA:247262
HP:0001560	Abnormality of the amniotic fluid	9487	PIGL	ORPHA:247262
HP:0001560	Abnormality of the amniotic fluid	9739	SETD1A	OMIM:619056
HP:0001560	Abnormality of the amniotic fluid	50619	DEF6	OMIM:619573
HP:0001560	Abnormality of the amniotic fluid	8260	NAA10	OMIM:300855
HP:0001560	Abnormality of the amniotic fluid	708	C1QBP	OMIM:617713
HP:0001560	Abnormality of the amniotic fluid	9325	TRIP4	OMIM:616866
HP:0001560	Abnormality of the amniotic fluid	284086	NEK8	OMIM:615415
HP:0001560	Abnormality of the amniotic fluid	672	BRCA1	ORPHA:84
HP:0001560	Abnormality of the amniotic fluid	10459	MAD2L2	ORPHA:84
HP:0001560	Abnormality of the amniotic fluid	7516	XRCC2	ORPHA:84
HP:0001560	Abnormality of the amniotic fluid	29089	UBE2T	ORPHA:84
HP:0001560	Abnormality of the amniotic fluid	675	BRCA2	ORPHA:84
HP:0001560	Abnormality of the amniotic fluid	55120	FANCL	ORPHA:84
HP:0001560	Abnormality of the amniotic fluid	2177	FANCD2	ORPHA:84
HP:0001560	Abnormality of the amniotic fluid	2175	FANCA	ORPHA:84
HP:0001560	Abnormality of the amniotic fluid	2176	FANCC	ORPHA:84
HP:0001560	Abnormality of the amniotic fluid	2178	FANCE	ORPHA:84
HP:0001560	Abnormality of the amniotic fluid	2189	FANCG	ORPHA:84
HP:0001560	Abnormality of the amniotic fluid	5888	RAD51	ORPHA:84
HP:0001560	Abnormality of the amniotic fluid	5889	RAD51C	ORPHA:84
HP:0001560	Abnormality of the amniotic fluid	55159	RFWD3	ORPHA:84
HP:0001560	Abnormality of the amniotic fluid	83990	BRIP1	ORPHA:84
HP:0001560	Abnormality of the amniotic fluid	57697	FANCM	ORPHA:84
HP:0001560	Abnormality of the amniotic fluid	79728	PALB2	ORPHA:84
HP:0001560	Abnormality of the amniotic fluid	84464	SLX4	ORPHA:84
HP:0001560	Abnormality of the amniotic fluid	2072	ERCC4	ORPHA:84
HP:0001560	Abnormality of the amniotic fluid	55215	FANCI	ORPHA:84
HP:0001560	Abnormality of the amniotic fluid	3913	LAMB2	OMIM:609049
HP:0001560	Abnormality of the amniotic fluid	22827	PUF60	ORPHA:508488
HP:0001560	Abnormality of the amniotic fluid	84314	TMEM107	ORPHA:564
HP:0001560	Abnormality of the amniotic fluid	26123	TCTN3	ORPHA:564
HP:0001560	Abnormality of the amniotic fluid	26123	TCTN3	ORPHA:2753
HP:0001560	Abnormality of the amniotic fluid	79867	TCTN2	ORPHA:564
HP:0001560	Abnormality of the amniotic fluid	80776	B9D2	ORPHA:564
HP:0001560	Abnormality of the amniotic fluid	79600	TCTN1	ORPHA:564
HP:0001560	Abnormality of the amniotic fluid	57096	RPGRIP1	ORPHA:564
HP:0001560	Abnormality of the amniotic fluid	79848	CSPP1	ORPHA:564
HP:0001560	Abnormality of the amniotic fluid	80184	CEP290	ORPHA:564
HP:0001560	Abnormality of the amniotic fluid	51259	TMEM216	ORPHA:564
HP:0001560	Abnormality of the amniotic fluid	57545	CC2D2A	ORPHA:564
HP:0001560	Abnormality of the amniotic fluid	79583	TMEM231	ORPHA:564
HP:0001560	Abnormality of the amniotic fluid	79583	TMEM231	OMIM:615397
HP:0001560	Abnormality of the amniotic fluid	91147	TMEM67	ORPHA:564
HP:0001560	Abnormality of the amniotic fluid	79770	TXNDC15	ORPHA:564
HP:0001560	Abnormality of the amniotic fluid	79770	TXNDC15	OMIM:619879
HP:0001560	Abnormality of the amniotic fluid	27077	B9D1	ORPHA:564
HP:0001560	Abnormality of the amniotic fluid	23322	RPGRIP1L	ORPHA:564
HP:0001560	Abnormality of the amniotic fluid	54903	MKS1	ORPHA:564
HP:0001560	Abnormality of the amniotic fluid	54903	MKS1	OMIM:249000
HP:0001560	Abnormality of the amniotic fluid	65062	TMEM237	ORPHA:564
HP:0001560	Abnormality of the amniotic fluid	6045	RNF2	OMIM:619460
HP:0001560	Abnormality of the amniotic fluid	10087	CERT1	OMIM:616351
HP:0001560	Abnormality of the amniotic fluid	26276	VPS33B	OMIM:208085
HP:0001560	Abnormality of the amniotic fluid	1656	DDX6	OMIM:618653
HP:0001560	Abnormality of the amniotic fluid	3977	LIFR	OMIM:601559
HP:0001560	Abnormality of the amniotic fluid	3977	LIFR	ORPHA:3206
HP:0001560	Abnormality of the amniotic fluid	1822	ATN1	OMIM:618494
HP:0001560	Abnormality of the amniotic fluid	4700	NDUFA6	OMIM:618253
HP:0001560	Abnormality of the amniotic fluid	84300	UQCC2	OMIM:615824
HP:0001560	Abnormality of the amniotic fluid	2783	GNB2	OMIM:619503
HP:0001560	Abnormality of the amniotic fluid	29980	DONSON	OMIM:617604
HP:0001560	Abnormality of the amniotic fluid	29980	DONSON	OMIM:251230
HP:0001560	Abnormality of the amniotic fluid	6304	SATB1	OMIM:619229
HP:0001560	Abnormality of the amniotic fluid	79053	ALG8	OMIM:608104
HP:0001560	Abnormality of the amniotic fluid	79053	ALG8	ORPHA:79325
HP:0001560	Abnormality of the amniotic fluid	6638	SNRPN	ORPHA:177907
HP:0001560	Abnormality of the amniotic fluid	55644	OSGEP	OMIM:617729
HP:0001560	Abnormality of the amniotic fluid	57572	DOCK6	OMIM:614219
HP:0001560	Abnormality of the amniotic fluid	2200	FBN1	OMIM:616914
HP:0001560	Abnormality of the amniotic fluid	27130	INVS	OMIM:602088
HP:0001560	Abnormality of the amniotic fluid	760	CA2	ORPHA:2785
HP:0001560	Abnormality of the amniotic fluid	8241	RBM10	OMIM:311900
HP:0001560	Abnormality of the amniotic fluid	9653	HS2ST1	OMIM:619194
HP:0001560	Abnormality of the amniotic fluid	253738	EBF3	OMIM:617330
HP:0001560	Abnormality of the amniotic fluid	5447	POR	OMIM:201750
HP:0001560	Abnormality of the amniotic fluid	3975	LHX1	ORPHA:261265
HP:0001560	Abnormality of the amniotic fluid	6928	HNF1B	ORPHA:261265
HP:0001560	Abnormality of the amniotic fluid	57061	HYMAI	ORPHA:96191
HP:0001560	Abnormality of the amniotic fluid	5325	PLAGL1	ORPHA:96191
HP:0001560	Abnormality of the amniotic fluid	5314	PKHD1	OMIM:263200
HP:0001560	Abnormality of the amniotic fluid	5314	PKHD1	ORPHA:731
HP:0001560	Abnormality of the amniotic fluid	29927	SEC61A1	OMIM:617056
HP:0001560	Abnormality of the amniotic fluid	213	ALB	OMIM:616000
HP:0001560	Abnormality of the amniotic fluid	213	ALB	ORPHA:86816
HP:0001560	Abnormality of the amniotic fluid	29957	SLC25A24	OMIM:612289
HP:0001560	Abnormality of the amniotic fluid	2627	GATA6	ORPHA:2255
HP:0001560	Abnormality of the amniotic fluid	8087	FXR1	OMIM:618822
HP:0001560	Abnormality of the amniotic fluid	8087	FXR1	OMIM:618823
HP:0001560	Abnormality of the amniotic fluid	54796	BNC2	ORPHA:93110
HP:0001560	Abnormality of the amniotic fluid	8516	ITGA8	ORPHA:1848
HP:0001560	Abnormality of the amniotic fluid	8516	ITGA8	OMIM:191830
HP:0001560	Abnormality of the amniotic fluid	26281	FGF20	ORPHA:1848
HP:0001560	Abnormality of the amniotic fluid	2674	GFRA1	ORPHA:1848
HP:0001560	Abnormality of the amniotic fluid	7484	WNT9B	ORPHA:1848
HP:0001560	Abnormality of the amniotic fluid	80000	GREB1L	ORPHA:1848
HP:0001560	Abnormality of the amniotic fluid	10056	FARSB	OMIM:613658
HP:0001560	Abnormality of the amniotic fluid	55165	CEP55	OMIM:236500
HP:0001560	Abnormality of the amniotic fluid	51360	MBTPS2	OMIM:308205
HP:0001560	Abnormality of the amniotic fluid	10398	MYL9	OMIM:619365
HP:0001560	Abnormality of the amniotic fluid	1028	CDKN1C	ORPHA:397590
HP:0001560	Abnormality of the amniotic fluid	5324	PLAG1	ORPHA:397590
HP:0001560	Abnormality of the amniotic fluid	8091	HMGA2	ORPHA:397590
HP:0001560	Abnormality of the amniotic fluid	9928	KIF14	OMIM:616258
HP:0001560	Abnormality of the amniotic fluid	64135	IFIH1	OMIM:615846
HP:0001560	Abnormality of the amniotic fluid	118924	FRA10AC1	OMIM:620113
HP:0001560	Abnormality of the amniotic fluid	199221	DZIP1L	ORPHA:731
HP:0001560	Abnormality of the amniotic fluid	1376	CPT2	OMIM:608836
HP:0001560	Abnormality of the amniotic fluid	7355	SLC35A2	OMIM:300896
HP:0001560	Abnormality of the amniotic fluid	8218	CLTCL1	ORPHA:453510
HP:0001560	Abnormality of the amniotic fluid	2193	FARSA	OMIM:619013
HP:0001560	Abnormality of the amniotic fluid	119559	SFXN4	OMIM:615578
HP:0001560	Abnormality of the amniotic fluid	84570	COL25A1	ORPHA:1143
HP:0001560	Abnormality of the amniotic fluid	57222	ERGIC1	ORPHA:1143
HP:0001560	Abnormality of the amniotic fluid	54361	WNT4	OMIM:611812
HP:0001560	Abnormality of the amniotic fluid	54361	WNT4	ORPHA:139466
HP:0001560	Abnormality of the amniotic fluid	10516	FBLN5	OMIM:219100
HP:0001560	Abnormality of the amniotic fluid	529	ATP6V1E1	OMIM:617402
HP:0001560	Abnormality of the amniotic fluid	7319	UBE2A	ORPHA:163956
HP:0001560	Abnormality of the amniotic fluid	27145	FILIP1	OMIM:620775
HP:0001560	Abnormality of the amniotic fluid	4713	NDUFB7	OMIM:620135
HP:0001560	Abnormality of the amniotic fluid	6888	TALDO1	OMIM:606003
HP:0001560	Abnormality of the amniotic fluid	9900	SV2A	OMIM:620772
HP:0001560	Abnormality of the amniotic fluid	6005	RHAG	ORPHA:71275
HP:0001560	Abnormality of the amniotic fluid	6006	RHCE	ORPHA:71275
HP:0001560	Abnormality of the amniotic fluid	168667	BMPER	OMIM:608022
HP:0001560	Abnormality of the amniotic fluid	23394	ADNP	OMIM:615873
HP:0001560	Abnormality of the amniotic fluid	9152	SLC6A5	OMIM:614618
HP:0001560	Abnormality of the amniotic fluid	501	ALDH7A1	ORPHA:3006
HP:0001560	Abnormality of the amniotic fluid	11212	PLPBP	ORPHA:3006
HP:0001560	Abnormality of the amniotic fluid	5205	ATP8B1	ORPHA:69665
HP:0001560	Abnormality of the amniotic fluid	8647	ABCB11	ORPHA:69665
HP:0001560	Abnormality of the amniotic fluid	5244	ABCB4	ORPHA:69665
HP:0001560	Abnormality of the amniotic fluid	9971	NR1H4	ORPHA:69665
HP:0001560	Abnormality of the amniotic fluid	55023	PHIP	OMIM:617991
HP:0001560	Abnormality of the amniotic fluid	6091	ROBO1	OMIM:620305
HP:0001560	Abnormality of the amniotic fluid	9898	UBAP2L	OMIM:620494
HP:0001561	Polyhydramnios	2137	EXTL3	ORPHA:508533
HP:0001561	Polyhydramnios	2137	EXTL3	OMIM:617425
HP:0001561	Polyhydramnios	83483	PLVAP	OMIM:618183
HP:0001561	Polyhydramnios	2294	FOXF1	OMIM:265380
HP:0001561	Polyhydramnios	8036	SHOC2	OMIM:607721
HP:0001561	Polyhydramnios	3763	KCNJ6	ORPHA:435628
HP:0001561	Polyhydramnios	3763	KCNJ6	OMIM:614098
HP:0001561	Polyhydramnios	4621	MYH3	ORPHA:2053
HP:0001561	Polyhydramnios	4621	MYH3	OMIM:193700
HP:0001561	Polyhydramnios	259232	NALCN	ORPHA:2053
HP:0001561	Polyhydramnios	199857	ALG14	OMIM:619036
HP:0001561	Polyhydramnios	104	ADARB1	OMIM:618862
HP:0001561	Polyhydramnios	10046	MAMLD1	ORPHA:456328
HP:0001561	Polyhydramnios	4534	MTM1	ORPHA:456328
HP:0001561	Polyhydramnios	4534	MTM1	ORPHA:596
HP:0001561	Polyhydramnios	4534	MTM1	OMIM:310400
HP:0001561	Polyhydramnios	2304	FOXE1	OMIM:241850
HP:0001561	Polyhydramnios	2304	FOXE1	ORPHA:1226
HP:0001561	Polyhydramnios	8506	CNTNAP1	OMIM:618186
HP:0001561	Polyhydramnios	8506	CNTNAP1	OMIM:616286
HP:0001561	Polyhydramnios	5339	PLEC	ORPHA:158684
HP:0001561	Polyhydramnios	5339	PLEC	OMIM:226730
HP:0001561	Polyhydramnios	5339	PLEC	OMIM:612138
HP:0001561	Polyhydramnios	3691	ITGB4	ORPHA:158684
HP:0001561	Polyhydramnios	3691	ITGB4	ORPHA:79403
HP:0001561	Polyhydramnios	3691	ITGB4	OMIM:226730
HP:0001561	Polyhydramnios	55503	TRPV6	OMIM:618188
HP:0001561	Polyhydramnios	23334	SZT2	OMIM:615476
HP:0001561	Polyhydramnios	6016	RIT1	OMIM:615355
HP:0001561	Polyhydramnios	23556	PIGN	ORPHA:2059
HP:0001561	Polyhydramnios	23556	PIGN	OMIM:614080
HP:0001561	Polyhydramnios	673	BRAF	OMIM:115150
HP:0001561	Polyhydramnios	57539	WDR35	OMIM:613610
HP:0001561	Polyhydramnios	5894	RAF1	OMIM:611553
HP:0001561	Polyhydramnios	4897	NRCAM	OMIM:619833
HP:0001561	Polyhydramnios	145173	B3GLCT	ORPHA:709
HP:0001561	Polyhydramnios	145173	B3GLCT	OMIM:261540
HP:0001561	Polyhydramnios	22800	RRAS2	OMIM:618624
HP:0001561	Polyhydramnios	8854	ALDH1A2	OMIM:620025
HP:0001561	Polyhydramnios	3636	INPPL1	ORPHA:3144
HP:0001561	Polyhydramnios	3636	INPPL1	OMIM:258480
HP:0001561	Polyhydramnios	23169	SLC35D1	ORPHA:3144
HP:0001561	Polyhydramnios	23169	SLC35D1	OMIM:269250
HP:0001561	Polyhydramnios	2261	FGFR3	ORPHA:93274
HP:0001561	Polyhydramnios	2261	FGFR3	ORPHA:1860
HP:0001561	Polyhydramnios	2261	FGFR3	OMIM:100800
HP:0001561	Polyhydramnios	2261	FGFR3	OMIM:187601
HP:0001561	Polyhydramnios	2261	FGFR3	OMIM:187600
HP:0001561	Polyhydramnios	126792	B3GALT6	OMIM:609465
HP:0001561	Polyhydramnios	2629	GBA1	OMIM:608013
HP:0001561	Polyhydramnios	3655	ITGA6	ORPHA:79403
HP:0001561	Polyhydramnios	4487	MSX1	ORPHA:199302
HP:0001561	Polyhydramnios	5818	NECTIN1	ORPHA:199302
HP:0001561	Polyhydramnios	8626	TP63	ORPHA:199302
HP:0001561	Polyhydramnios	3664	IRF6	ORPHA:199302
HP:0001561	Polyhydramnios	2317	FLNB	ORPHA:56305
HP:0001561	Polyhydramnios	2317	FLNB	ORPHA:1190
HP:0001561	Polyhydramnios	2317	FLNB	OMIM:108720
HP:0001561	Polyhydramnios	2317	FLNB	ORPHA:1263
HP:0001561	Polyhydramnios	1836	SLC26A2	ORPHA:56304
HP:0001561	Polyhydramnios	1836	SLC26A2	OMIM:600972
HP:0001561	Polyhydramnios	1836	SLC26A2	ORPHA:93298
HP:0001561	Polyhydramnios	215	ABCD1	ORPHA:388
HP:0001561	Polyhydramnios	5979	RET	ORPHA:388
HP:0001561	Polyhydramnios	5979	RET	ORPHA:99803
HP:0001561	Polyhydramnios	2668	GDNF	ORPHA:388
HP:0001561	Polyhydramnios	6608	SMO	ORPHA:388
HP:0001561	Polyhydramnios	1889	ECE1	ORPHA:388
HP:0001561	Polyhydramnios	6720	SREBF1	ORPHA:388
HP:0001561	Polyhydramnios	1908	EDN3	ORPHA:388
HP:0001561	Polyhydramnios	223117	SEMA3D	ORPHA:388
HP:0001561	Polyhydramnios	538	ATP7A	ORPHA:388
HP:0001561	Polyhydramnios	1910	EDNRB	ORPHA:388
HP:0001561	Polyhydramnios	10512	SEMA3C	ORPHA:388
HP:0001561	Polyhydramnios	2064	ERBB2	ORPHA:388
HP:0001561	Polyhydramnios	2065	ERBB3	ORPHA:388
HP:0001561	Polyhydramnios	2065	ERBB3	OMIM:607598
HP:0001561	Polyhydramnios	4902	NRTN	ORPHA:388
HP:0001561	Polyhydramnios	58	ACTA1	ORPHA:171436
HP:0001561	Polyhydramnios	58	ACTA1	ORPHA:171433
HP:0001561	Polyhydramnios	58	ACTA1	ORPHA:171430
HP:0001561	Polyhydramnios	58	ACTA1	ORPHA:2020
HP:0001561	Polyhydramnios	58	ACTA1	OMIM:161800
HP:0001561	Polyhydramnios	58	ACTA1	ORPHA:171439
HP:0001561	Polyhydramnios	7169	TPM2	ORPHA:171436
HP:0001561	Polyhydramnios	7169	TPM2	ORPHA:2020
HP:0001561	Polyhydramnios	7169	TPM2	ORPHA:171439
HP:0001561	Polyhydramnios	4703	NEB	ORPHA:171436
HP:0001561	Polyhydramnios	4703	NEB	ORPHA:171433
HP:0001561	Polyhydramnios	4703	NEB	ORPHA:171430
HP:0001561	Polyhydramnios	4703	NEB	ORPHA:171439
HP:0001561	Polyhydramnios	4703	NEB	OMIM:256030
HP:0001561	Polyhydramnios	4703	NEB	OMIM:619334
HP:0001561	Polyhydramnios	10324	KLHL41	ORPHA:171436
HP:0001561	Polyhydramnios	10324	KLHL41	ORPHA:171433
HP:0001561	Polyhydramnios	10324	KLHL41	ORPHA:171430
HP:0001561	Polyhydramnios	10324	KLHL41	OMIM:615731
HP:0001561	Polyhydramnios	10324	KLHL41	ORPHA:171439
HP:0001561	Polyhydramnios	56203	LMOD3	ORPHA:171436
HP:0001561	Polyhydramnios	56203	LMOD3	ORPHA:171430
HP:0001561	Polyhydramnios	56203	LMOD3	OMIM:616165
HP:0001561	Polyhydramnios	1073	CFL2	ORPHA:171436
HP:0001561	Polyhydramnios	51112	TRAPPC12	ORPHA:500144
HP:0001561	Polyhydramnios	249	ALPL	OMIM:241500
HP:0001561	Polyhydramnios	9578	CDC42BPB	OMIM:619841
HP:0001561	Polyhydramnios	7170	TPM3	ORPHA:171433
HP:0001561	Polyhydramnios	7170	TPM3	ORPHA:2020
HP:0001561	Polyhydramnios	7170	TPM3	ORPHA:171439
HP:0001561	Polyhydramnios	80816	ASXL3	OMIM:615485
HP:0001561	Polyhydramnios	131377	KLHL40	ORPHA:171430
HP:0001561	Polyhydramnios	131377	KLHL40	OMIM:615348
HP:0001561	Polyhydramnios	1785	DNM2	OMIM:615368
HP:0001561	Polyhydramnios	1785	DNM2	ORPHA:169189
HP:0001561	Polyhydramnios	1841	DTYMK	OMIM:619847
HP:0001561	Polyhydramnios	22858	CILK1	OMIM:612651
HP:0001561	Polyhydramnios	477	ATP1A2	OMIM:619602
HP:0001561	Polyhydramnios	2132	EXT2	ORPHA:466926
HP:0001561	Polyhydramnios	6662	SOX9	OMIM:114290
HP:0001561	Polyhydramnios	6662	SOX9	ORPHA:718
HP:0001561	Polyhydramnios	1717	DHCR7	ORPHA:818
HP:0001561	Polyhydramnios	9200	HACD1	OMIM:619967
HP:0001561	Polyhydramnios	9200	HACD1	ORPHA:2020
HP:0001561	Polyhydramnios	429	ASCL1	ORPHA:99803
HP:0001561	Polyhydramnios	8929	PHOX2B	ORPHA:99803
HP:0001561	Polyhydramnios	55636	CHD7	ORPHA:138
HP:0001561	Polyhydramnios	55636	CHD7	OMIM:214800
HP:0001561	Polyhydramnios	9723	SEMA3E	ORPHA:138
HP:0001561	Polyhydramnios	2188	FANCF	OMIM:603467
HP:0001561	Polyhydramnios	7125	TNNC2	OMIM:620161
HP:0001561	Polyhydramnios	535	ATP6V0A1	OMIM:619971
HP:0001561	Polyhydramnios	83871	RAB34	OMIM:620718
HP:0001561	Polyhydramnios	1272	CNTN1	OMIM:612540
HP:0001561	Polyhydramnios	23522	KAT6B	OMIM:606170
HP:0001561	Polyhydramnios	23522	KAT6B	ORPHA:3047
HP:0001561	Polyhydramnios	6261	RYR1	OMIM:255320
HP:0001561	Polyhydramnios	6261	RYR1	ORPHA:169189
HP:0001561	Polyhydramnios	6261	RYR1	ORPHA:98905
HP:0001561	Polyhydramnios	10606	PAICS	OMIM:619859
HP:0001561	Polyhydramnios	55681	SCYL2	OMIM:618766
HP:0001561	Polyhydramnios	93627	TBCK	OMIM:616900
HP:0001561	Polyhydramnios	55107	ANO1	OMIM:620045
HP:0001561	Polyhydramnios	79087	ALG12	OMIM:607143
HP:0001561	Polyhydramnios	79087	ALG12	ORPHA:79324
HP:0001561	Polyhydramnios	283989	TSEN54	ORPHA:166063
HP:0001561	Polyhydramnios	283989	TSEN54	OMIM:277470
HP:0001561	Polyhydramnios	283989	TSEN54	OMIM:225753
HP:0001561	Polyhydramnios	4524	MTHFR	ORPHA:563612
HP:0001561	Polyhydramnios	57216	VANGL2	ORPHA:563612
HP:0001561	Polyhydramnios	9896	FIG4	ORPHA:3472
HP:0001561	Polyhydramnios	9896	FIG4	OMIM:216340
HP:0001561	Polyhydramnios	55697	VAC14	ORPHA:3472
HP:0001561	Polyhydramnios	57190	SELENON	ORPHA:2020
HP:0001561	Polyhydramnios	4633	MYL2	ORPHA:2020
HP:0001561	Polyhydramnios	3679	ITGA7	ORPHA:2020
HP:0001561	Polyhydramnios	51776	MAP3K20	ORPHA:2020
HP:0001561	Polyhydramnios	9184	BUB3	ORPHA:1052
HP:0001561	Polyhydramnios	699	BUB1	ORPHA:1052
HP:0001561	Polyhydramnios	9702	CEP57	ORPHA:1052
HP:0001561	Polyhydramnios	9319	TRIP13	ORPHA:1052
HP:0001561	Polyhydramnios	701	BUB1B	ORPHA:1052
HP:0001561	Polyhydramnios	10203	CALCRL	OMIM:618773
HP:0001561	Polyhydramnios	4632	MYL1	OMIM:618414
HP:0001561	Polyhydramnios	200734	SPRED2	OMIM:619745
HP:0001561	Polyhydramnios	11193	WBP4	OMIM:620852
HP:0001561	Polyhydramnios	25942	SIN3A	OMIM:613406
HP:0001561	Polyhydramnios	3265	HRAS	OMIM:218040
HP:0001561	Polyhydramnios	3265	HRAS	ORPHA:3071
HP:0001561	Polyhydramnios	3039	HBA1	ORPHA:163596
HP:0001561	Polyhydramnios	3040	HBA2	ORPHA:163596
HP:0001561	Polyhydramnios	26227	PHGDH	OMIM:256520
HP:0001561	Polyhydramnios	129563	DIS3L2	OMIM:267000
HP:0001561	Polyhydramnios	4953	ODC1	OMIM:619075
HP:0001561	Polyhydramnios	4953	ODC1	ORPHA:544488
HP:0001561	Polyhydramnios	7809	BSND	ORPHA:89938
HP:0001561	Polyhydramnios	7809	BSND	OMIM:602522
HP:0001561	Polyhydramnios	1188	CLCNKB	ORPHA:89938
HP:0001561	Polyhydramnios	1188	CLCNKB	OMIM:613090
HP:0001561	Polyhydramnios	1187	CLCNKA	ORPHA:89938
HP:0001561	Polyhydramnios	1187	CLCNKA	OMIM:613090
HP:0001561	Polyhydramnios	1186	CLCN7	OMIM:618541
HP:0001561	Polyhydramnios	57217	TTC7A	OMIM:243150
HP:0001561	Polyhydramnios	57217	TTC7A	ORPHA:2300
HP:0001561	Polyhydramnios	57217	TTC7A	ORPHA:436252
HP:0001561	Polyhydramnios	1280	COL2A1	OMIM:151210
HP:0001561	Polyhydramnios	1280	COL2A1	ORPHA:93316
HP:0001561	Polyhydramnios	1280	COL2A1	ORPHA:85166
HP:0001561	Polyhydramnios	1280	COL2A1	OMIM:200610
HP:0001561	Polyhydramnios	4593	MUSK	OMIM:208150
HP:0001561	Polyhydramnios	4593	MUSK	ORPHA:994
HP:0001561	Polyhydramnios	57498	KIDINS220	ORPHA:521390
HP:0001561	Polyhydramnios	57498	KIDINS220	OMIM:617296
HP:0001561	Polyhydramnios	57680	CHD8	OMIM:615032
HP:0001561	Polyhydramnios	56006	SMG9	OMIM:616920
HP:0001561	Polyhydramnios	6135	RPL11	OMIM:612562
HP:0001561	Polyhydramnios	100128927	ZBTB42	OMIM:616248
HP:0001561	Polyhydramnios	9091	PIGQ	OMIM:618548
HP:0001561	Polyhydramnios	6134	RPL10	ORPHA:459070
HP:0001561	Polyhydramnios	6134	RPL10	OMIM:300998
HP:0001561	Polyhydramnios	23345	SYNE1	ORPHA:319332
HP:0001561	Polyhydramnios	54499	TMCO1	OMIM:213980
HP:0001561	Polyhydramnios	54499	TMCO1	ORPHA:1394
HP:0001561	Polyhydramnios	157570	ESCO2	ORPHA:3103
HP:0001561	Polyhydramnios	157570	ESCO2	OMIM:268300
HP:0001561	Polyhydramnios	8085	KMT2D	OMIM:620186
HP:0001561	Polyhydramnios	8085	KMT2D	OMIM:147920
HP:0001561	Polyhydramnios	1859	DYRK1A	ORPHA:464311
HP:0001561	Polyhydramnios	84992	PIGY	OMIM:616809
HP:0001561	Polyhydramnios	51611	DPH5	OMIM:620070
HP:0001561	Polyhydramnios	554	AVPR2	ORPHA:223
HP:0001561	Polyhydramnios	359	AQP2	ORPHA:223
HP:0001561	Polyhydramnios	5605	MAP2K2	OMIM:615280
HP:0001561	Polyhydramnios	7547	ZIC3	OMIM:314390
HP:0001561	Polyhydramnios	7547	ZIC3	OMIM:306955
HP:0001561	Polyhydramnios	2187	FANCB	OMIM:314390
HP:0001561	Polyhydramnios	2187	FANCB	ORPHA:3412
HP:0001561	Polyhydramnios	59336	PRDM13	OMIM:619761
HP:0001561	Polyhydramnios	3845	KRAS	ORPHA:3339
HP:0001561	Polyhydramnios	3845	KRAS	OMIM:609942
HP:0001561	Polyhydramnios	1811	SLC26A3	OMIM:214700
HP:0001561	Polyhydramnios	25802	LMOD1	ORPHA:2241
HP:0001561	Polyhydramnios	25802	LMOD1	OMIM:619362
HP:0001561	Polyhydramnios	4629	MYH11	ORPHA:2241
HP:0001561	Polyhydramnios	72	ACTG2	ORPHA:2241
HP:0001561	Polyhydramnios	72	ACTG2	OMIM:155310
HP:0001561	Polyhydramnios	4638	MYLK	ORPHA:2241
HP:0001561	Polyhydramnios	7841	MOGS	ORPHA:79330
HP:0001561	Polyhydramnios	388015	RTL1	ORPHA:96334
HP:0001561	Polyhydramnios	388015	RTL1	ORPHA:254534
HP:0001561	Polyhydramnios	388015	RTL1	ORPHA:254528
HP:0001561	Polyhydramnios	8788	DLK1	ORPHA:96334
HP:0001561	Polyhydramnios	8788	DLK1	ORPHA:254534
HP:0001561	Polyhydramnios	8788	DLK1	ORPHA:254528
HP:0001561	Polyhydramnios	55384	MEG3	ORPHA:96334
HP:0001561	Polyhydramnios	55384	MEG3	ORPHA:254534
HP:0001561	Polyhydramnios	55384	MEG3	ORPHA:254528
HP:0001561	Polyhydramnios	2271	FH	OMIM:606812
HP:0001561	Polyhydramnios	3930	LBR	OMIM:215140
HP:0001561	Polyhydramnios	2239	GPC4	ORPHA:373
HP:0001561	Polyhydramnios	2239	GPC4	OMIM:312870
HP:0001561	Polyhydramnios	2719	GPC3	ORPHA:373
HP:0001561	Polyhydramnios	2719	GPC3	OMIM:312870
HP:0001561	Polyhydramnios	79989	IFT56	OMIM:619534
HP:0001561	Polyhydramnios	10848	PPP1R13L	OMIM:620519
HP:0001561	Polyhydramnios	9652	SKIC3	OMIM:222470
HP:0001561	Polyhydramnios	64321	SOX17	OMIM:613674
HP:0001561	Polyhydramnios	84665	MYPN	ORPHA:171439
HP:0001561	Polyhydramnios	390594	KBTBD13	ORPHA:171439
HP:0001561	Polyhydramnios	9321	TRIP11	ORPHA:93299
HP:0001561	Polyhydramnios	9321	TRIP11	OMIM:200600
HP:0001561	Polyhydramnios	5048	PAFAH1B1	ORPHA:95232
HP:0001561	Polyhydramnios	5048	PAFAH1B1	ORPHA:531
HP:0001561	Polyhydramnios	3339	HSPG2	ORPHA:800
HP:0001561	Polyhydramnios	286204	CRB2	OMIM:219730
HP:0001561	Polyhydramnios	10682	EBP	OMIM:302960
HP:0001561	Polyhydramnios	6567	SLC16A2	ORPHA:59
HP:0001561	Polyhydramnios	171023	ASXL1	OMIM:605039
HP:0001561	Polyhydramnios	81570	CLPB	OMIM:616271
HP:0001561	Polyhydramnios	91137	SLC25A46	OMIM:619303
HP:0001561	Polyhydramnios	8621	CDK13	OMIM:617360
HP:0001561	Polyhydramnios	867	CBL	OMIM:613563
HP:0001561	Polyhydramnios	29968	PSAT1	OMIM:616038
HP:0001561	Polyhydramnios	1134	CHRNA1	OMIM:253290
HP:0001561	Polyhydramnios	1146	CHRNG	OMIM:253290
HP:0001561	Polyhydramnios	1144	CHRND	OMIM:253290
HP:0001561	Polyhydramnios	55112	DYNC2I1	OMIM:615503
HP:0001561	Polyhydramnios	8216	LZTR1	OMIM:605275
HP:0001561	Polyhydramnios	6654	SOS1	OMIM:610733
HP:0001561	Polyhydramnios	78987	CRELD1	OMIM:620771
HP:0001561	Polyhydramnios	2263	FGFR2	OMIM:101200
HP:0001561	Polyhydramnios	4054	LTBP3	OMIM:617809
HP:0001561	Polyhydramnios	9949	AMMECR1	OMIM:300990
HP:0001561	Polyhydramnios	9361	LONP1	OMIM:600373
HP:0001561	Polyhydramnios	55906	ZC4H2	OMIM:301041
HP:0001561	Polyhydramnios	112	ADCY6	OMIM:616287
HP:0001561	Polyhydramnios	9780	PIEZO1	OMIM:616843
HP:0001561	Polyhydramnios	2632	GBE1	OMIM:232500
HP:0001561	Polyhydramnios	89891	DYNC2I2	OMIM:615633
HP:0001561	Polyhydramnios	2733	GLE1	ORPHA:1486
HP:0001561	Polyhydramnios	5396	PRRX1	OMIM:202650
HP:0001561	Polyhydramnios	5396	PRRX1	ORPHA:990
HP:0001561	Polyhydramnios	92335	STRADA	ORPHA:500533
HP:0001561	Polyhydramnios	92335	STRADA	OMIM:611087
HP:0001561	Polyhydramnios	6334	SCN8A	OMIM:614306
HP:0001561	Polyhydramnios	8818	DPM2	ORPHA:329178
HP:0001561	Polyhydramnios	7473	WNT3	ORPHA:3301
HP:0001561	Polyhydramnios	340419	RSPO2	ORPHA:3301
HP:0001561	Polyhydramnios	9496	TBX4	ORPHA:3301
HP:0001561	Polyhydramnios	274	BIN1	ORPHA:169189
HP:0001561	Polyhydramnios	64419	MTMR14	ORPHA:169189
HP:0001561	Polyhydramnios	4618	MYF6	ORPHA:169189
HP:0001561	Polyhydramnios	5745	PTH1R	OMIM:215045
HP:0001561	Polyhydramnios	5745	PTH1R	ORPHA:50945
HP:0001561	Polyhydramnios	100033413	SNORD116-1	OMIM:176270
HP:0001561	Polyhydramnios	8924	HERC2	OMIM:176270
HP:0001561	Polyhydramnios	23742	NPAP1	OMIM:176270
HP:0001561	Polyhydramnios	338433	SNORD115-1	OMIM:176270
HP:0001561	Polyhydramnios	54551	MAGEL2	OMIM:176270
HP:0001561	Polyhydramnios	54551	MAGEL2	ORPHA:994
HP:0001561	Polyhydramnios	7681	MKRN3	OMIM:176270
HP:0001561	Polyhydramnios	145624	PWAR1	OMIM:176270
HP:0001561	Polyhydramnios	3653	IPW	OMIM:176270
HP:0001561	Polyhydramnios	791114	PWRN1	OMIM:176270
HP:0001561	Polyhydramnios	55593	OTUD5	OMIM:301056
HP:0001561	Polyhydramnios	10999	SLC27A4	OMIM:608649
HP:0001561	Polyhydramnios	6647	SOD1	OMIM:618598
HP:0001561	Polyhydramnios	113179	ADAT3	ORPHA:363528
HP:0001561	Polyhydramnios	473	RERE	OMIM:616975
HP:0001561	Polyhydramnios	4893	NRAS	OMIM:613224
HP:0001561	Polyhydramnios	2033	EP300	ORPHA:353284
HP:0001561	Polyhydramnios	2033	EP300	OMIM:180849
HP:0001561	Polyhydramnios	55033	FKBP14	OMIM:614557
HP:0001561	Polyhydramnios	6513	SLC2A1	OMIM:608885
HP:0001561	Polyhydramnios	1760	DMPK	OMIM:160900
HP:0001561	Polyhydramnios	1760	DMPK	ORPHA:589821
HP:0001561	Polyhydramnios	6904	TBCD	ORPHA:496641
HP:0001561	Polyhydramnios	10916	MAGED2	OMIM:300971
HP:0001561	Polyhydramnios	2530	FUT8	OMIM:618005
HP:0001561	Polyhydramnios	1956	EGFR	OMIM:616069
HP:0001561	Polyhydramnios	54496	PRMT7	OMIM:617157
HP:0001561	Polyhydramnios	7019	TFAM	OMIM:617156
HP:0001561	Polyhydramnios	3643	INSR	OMIM:246200
HP:0001561	Polyhydramnios	6550	SLC9A3	OMIM:616868
HP:0001561	Polyhydramnios	80746	TSEN2	OMIM:612389
HP:0001561	Polyhydramnios	51008	ASCC1	OMIM:616867
HP:0001561	Polyhydramnios	57211	ADGRG6	OMIM:616503
HP:0001561	Polyhydramnios	2917	GRM7	OMIM:618922
HP:0001561	Polyhydramnios	1312	COMT	ORPHA:567
HP:0001561	Polyhydramnios	221037	JMJD1C	ORPHA:567
HP:0001561	Polyhydramnios	2812	GP1BB	ORPHA:567
HP:0001561	Polyhydramnios	6239	RREB1	ORPHA:567
HP:0001561	Polyhydramnios	6899	TBX1	ORPHA:567
HP:0001561	Polyhydramnios	7290	HIRA	ORPHA:567
HP:0001561	Polyhydramnios	9632	SEC24C	ORPHA:567
HP:0001561	Polyhydramnios	7353	UFD1	ORPHA:567
HP:0001561	Polyhydramnios	421	ARVCF	ORPHA:567
HP:0001561	Polyhydramnios	8604	SLC25A12	OMIM:612949
HP:0001561	Polyhydramnios	7703	PCGF2	OMIM:618371
HP:0001561	Polyhydramnios	6557	SLC12A1	OMIM:601678
HP:0001561	Polyhydramnios	3758	KCNJ1	OMIM:241200
HP:0001561	Polyhydramnios	5277	PIGA	OMIM:300868
HP:0001561	Polyhydramnios	79796	ALG9	OMIM:263210
HP:0001561	Polyhydramnios	6007	RHD	OMIM:619462
HP:0001561	Polyhydramnios	4613	MYCN	OMIM:164280
HP:0001561	Polyhydramnios	10320	IKZF1	OMIM:616873
HP:0001561	Polyhydramnios	55210	ATAD3A	OMIM:618810
HP:0001561	Polyhydramnios	208	AKT2	OMIM:240900
HP:0001561	Polyhydramnios	124997	WDR81	OMIM:617967
HP:0001561	Polyhydramnios	55605	KIF21A	ORPHA:994
HP:0001561	Polyhydramnios	4927	NUP88	ORPHA:994
HP:0001561	Polyhydramnios	4927	NUP88	OMIM:618393
HP:0001561	Polyhydramnios	7846	TUBA1A	ORPHA:994
HP:0001561	Polyhydramnios	4654	MYOD1	ORPHA:994
HP:0001561	Polyhydramnios	4654	MYOD1	OMIM:618975
HP:0001561	Polyhydramnios	5913	RAPSN	ORPHA:994
HP:0001561	Polyhydramnios	6572	SLC18A3	ORPHA:994
HP:0001561	Polyhydramnios	6572	SLC18A3	ORPHA:98914
HP:0001561	Polyhydramnios	285489	DOK7	ORPHA:994
HP:0001561	Polyhydramnios	5015	OTX2	ORPHA:990
HP:0001561	Polyhydramnios	80347	COASY	OMIM:618266
HP:0001561	Polyhydramnios	6628	SNRPB	OMIM:117650
HP:0001561	Polyhydramnios	57003	CCDC47	OMIM:618268
HP:0001561	Polyhydramnios	5977	DPF2	OMIM:618027
HP:0001561	Polyhydramnios	10526	IPO8	OMIM:619472
HP:0001561	Polyhydramnios	5167	ENPP1	ORPHA:51608
HP:0001561	Polyhydramnios	368	ABCC6	ORPHA:51608
HP:0001561	Polyhydramnios	1387	CREBBP	OMIM:180849
HP:0001561	Polyhydramnios	1387	CREBBP	ORPHA:353277
HP:0001561	Polyhydramnios	1861	TOR1A	OMIM:618947
HP:0001561	Polyhydramnios	8405	SPOP	OMIM:618829
HP:0001561	Polyhydramnios	9935	MAFB	ORPHA:2774
HP:0001561	Polyhydramnios	526	ATP6V1B2	ORPHA:79500
HP:0001561	Polyhydramnios	57465	TBC1D24	ORPHA:79500
HP:0001561	Polyhydramnios	10653	SPINT2	OMIM:270420
HP:0001561	Polyhydramnios	1457	CSNK2A1	OMIM:617062
HP:0001561	Polyhydramnios	2077	ERF	OMIM:617180
HP:0001561	Polyhydramnios	8567	MADD	OMIM:619004
HP:0001561	Polyhydramnios	374879	ZNF699	OMIM:619488
HP:0001561	Polyhydramnios	55640	FLVCR2	OMIM:225790
HP:0001561	Polyhydramnios	9508	ADAMTS3	OMIM:618154
HP:0001561	Polyhydramnios	10293	TRAIP	OMIM:616777
HP:0001561	Polyhydramnios	202018	TAPT1	OMIM:616897
HP:0001561	Polyhydramnios	60482	SLC5A7	ORPHA:98914
HP:0001561	Polyhydramnios	4649	MYO9A	ORPHA:98914
HP:0001561	Polyhydramnios	1305	COL13A1	ORPHA:98914
HP:0001561	Polyhydramnios	1103	CHAT	ORPHA:98914
HP:0001561	Polyhydramnios	6576	SLC25A1	ORPHA:98914
HP:0001561	Polyhydramnios	6843	VAMP1	ORPHA:98914
HP:0001561	Polyhydramnios	375790	AGRN	ORPHA:98914
HP:0001561	Polyhydramnios	127833	SYT2	ORPHA:98914
HP:0001561	Polyhydramnios	6616	SNAP25	ORPHA:98914
HP:0001561	Polyhydramnios	5500	PPP1CB	OMIM:617506
HP:0001561	Polyhydramnios	7291	TWIST1	OMIM:617746
HP:0001561	Polyhydramnios	60	ACTB	OMIM:620475
HP:0001561	Polyhydramnios	6329	SCN4A	OMIM:620351
HP:0001561	Polyhydramnios	6329	SCN4A	OMIM:620369
HP:0001561	Polyhydramnios	139285	AMER1	OMIM:300373
HP:0001561	Polyhydramnios	3090	HIC1	ORPHA:531
HP:0001561	Polyhydramnios	7531	YWHAE	ORPHA:531
HP:0001561	Polyhydramnios	342035	GLDN	OMIM:617194
HP:0001561	Polyhydramnios	10577	NPC2	OMIM:607625
HP:0001561	Polyhydramnios	200205	IBA57	OMIM:615330
HP:0001561	Polyhydramnios	9786	KIAA0586	OMIM:616546
HP:0001561	Polyhydramnios	51780	KDM3B	OMIM:618846
HP:0001561	Polyhydramnios	8481	OFD1	OMIM:300804
HP:0001561	Polyhydramnios	4000	LMNA	ORPHA:1662
HP:0001561	Polyhydramnios	10269	ZMPSTE24	ORPHA:1662
HP:0001561	Polyhydramnios	10269	ZMPSTE24	OMIM:275210
HP:0001561	Polyhydramnios	5297	PI4KA	ORPHA:436252
HP:0001561	Polyhydramnios	55005	RMND1	OMIM:614922
HP:0001561	Polyhydramnios	3295	HSD17B4	OMIM:261515
HP:0001561	Polyhydramnios	10225	CD96	ORPHA:1308
HP:0001561	Polyhydramnios	1302	COL11A2	ORPHA:1427
HP:0001561	Polyhydramnios	219844	HYLS1	OMIM:236680
HP:0001561	Polyhydramnios	219844	HYLS1	ORPHA:2189
HP:0001561	Polyhydramnios	3239	HOXD13	ORPHA:887
HP:0001561	Polyhydramnios	23299	BICD2	OMIM:618291
HP:0001561	Polyhydramnios	27031	NPHP3	ORPHA:3032
HP:0001561	Polyhydramnios	51626	DYNC2LI1	OMIM:617088
HP:0001561	Polyhydramnios	115286	SLC25A26	OMIM:616794
HP:0001561	Polyhydramnios	7543	ZFX	OMIM:301118
HP:0001561	Polyhydramnios	221692	PHACTR1	OMIM:618298
HP:0001561	Polyhydramnios	374654	KIF7	ORPHA:2189
HP:0001561	Polyhydramnios	9373	PLAA	OMIM:617527
HP:0001561	Polyhydramnios	29969	MDFIC	OMIM:620014
HP:0001561	Polyhydramnios	7403	KDM6A	OMIM:147920
HP:0001563	Fetal polyuria	10916	MAGED2	OMIM:300971
HP:0001563	Fetal polyuria	6557	SLC12A1	OMIM:601678
HP:0001563	Fetal polyuria	1187	CLCNKA	OMIM:613090
HP:0001563	Fetal polyuria	1188	CLCNKB	OMIM:613090
HP:0001563	Fetal polyuria	7809	BSND	OMIM:602522
HP:0001563	Fetal polyuria	5979	RET	ORPHA:1848
HP:0001563	Fetal polyuria	8516	ITGA8	ORPHA:1848
HP:0001563	Fetal polyuria	26281	FGF20	ORPHA:1848
HP:0001563	Fetal polyuria	2674	GFRA1	ORPHA:1848
HP:0001563	Fetal polyuria	7484	WNT9B	ORPHA:1848
HP:0001563	Fetal polyuria	80000	GREB1L	ORPHA:1848
HP:0001563	Fetal polyuria	3758	KCNJ1	OMIM:241200
HP:0006480	Premature loss of teeth	9896	FIG4	OMIM:216340
HP:0006480	Premature loss of teeth	9896	FIG4	ORPHA:3472
HP:0006480	Premature loss of teeth	7421	VDR	ORPHA:93160
HP:0006480	Premature loss of teeth	716	C1S	ORPHA:75392
HP:0006480	Premature loss of teeth	55697	VAC14	ORPHA:3472
HP:0006480	Premature loss of teeth	80326	WNT10A	ORPHA:50944
HP:0006480	Premature loss of teeth	80326	WNT10A	ORPHA:248
HP:0006480	Premature loss of teeth	55612	FERMT1	ORPHA:2908
HP:0006480	Premature loss of teeth	249	ALPL	OMIM:241510
HP:0006480	Premature loss of teeth	249	ALPL	OMIM:146300
HP:0006480	Premature loss of teeth	5587	PRKD1	OMIM:617364
HP:0006480	Premature loss of teeth	128178	EDARADD	ORPHA:248
HP:0006480	Premature loss of teeth	128178	EDARADD	ORPHA:1810
HP:0006480	Premature loss of teeth	10913	EDAR	ORPHA:248
HP:0006480	Premature loss of teeth	10913	EDAR	ORPHA:1810
HP:0006480	Premature loss of teeth	1476	CSTB	ORPHA:248
HP:0006480	Premature loss of teeth	7189	TRAF6	ORPHA:1810
HP:0006480	Premature loss of teeth	126695	KDF1	ORPHA:1810
HP:0006480	Premature loss of teeth	1186	CLCN7	ORPHA:667
HP:0006480	Premature loss of teeth	29887	SNX10	ORPHA:667
HP:0006480	Premature loss of teeth	8600	TNFSF11	ORPHA:667
HP:0006480	Premature loss of teeth	3691	ITGB4	OMIM:619816
HP:0006480	Premature loss of teeth	847	CAT	ORPHA:926
HP:0006480	Premature loss of teeth	284654	RSPO1	OMIM:610644
HP:0006480	Premature loss of teeth	8626	TP63	OMIM:103285
HP:0006480	Premature loss of teeth	4038	LRP4	OMIM:212780
HP:0006480	Premature loss of teeth	1281	COL3A1	OMIM:130050
HP:0006480	Premature loss of teeth	55131	RBM28	ORPHA:157954
HP:0006480	Premature loss of teeth	10269	ZMPSTE24	OMIM:608612
HP:0006480	Premature loss of teeth	6197	RPS6KA3	ORPHA:192
HP:0006480	Premature loss of teeth	10484	SEC23A	ORPHA:50814
HP:0006480	Premature loss of teeth	51604	PIGT	ORPHA:369837
HP:0006480	Premature loss of teeth	1593	CYP27A1	ORPHA:909
HP:0006480	Premature loss of teeth	1075	CTSC	OMIM:170650
HP:0006480	Premature loss of teeth	1075	CTSC	OMIM:245000
HP:0006480	Premature loss of teeth	4853	NOTCH2	OMIM:102500
HP:0006480	Premature loss of teeth	2355	FOSL2	OMIM:620789
HP:0006480	Premature loss of teeth	285590	SH3PXD2B	ORPHA:137834
HP:0006480	Premature loss of teeth	9842	PLEKHM1	OMIM:618107
HP:0006480	Premature loss of teeth	1736	DKC1	OMIM:305000
HP:0006480	Premature loss of teeth	2072	ERCC4	OMIM:610965
HP:0006480	Premature loss of teeth	10312	TCIRG1	ORPHA:486
HP:0006480	Premature loss of teeth	6728	SRP19	ORPHA:486
HP:0006480	Premature loss of teeth	1991	ELANE	ORPHA:486
HP:0006480	Premature loss of teeth	2672	GFI1	ORPHA:486
HP:0006480	Premature loss of teeth	81570	CLPB	ORPHA:486
HP:0006480	Premature loss of teeth	4982	TNFRSF11B	OMIM:239000
HP:0006480	Premature loss of teeth	4914	NTRK1	ORPHA:642
HP:0006480	Premature loss of teeth	3861	KRT14	OMIM:161000
HP:0006480	Premature loss of teeth	3861	KRT14	ORPHA:69087
HP:0006480	Premature loss of teeth	715	C1R	OMIM:130080
HP:0006480	Premature loss of teeth	860	RUNX2	OMIM:156510
HP:0006480	Premature loss of teeth	375056	MIA3	OMIM:619269
HP:0006480	Premature loss of teeth	23328	SASH1	OMIM:618373
HP:0006480	Premature loss of teeth	8792	TNFRSF11A	OMIM:174810
HP:0006480	Premature loss of teeth	8792	TNFRSF11A	OMIM:602080
HP:0006480	Premature loss of teeth	5073	PARN	OMIM:616353
HP:0006480	Premature loss of teeth	1009	CDH11	ORPHA:1299
HP:0006480	Premature loss of teeth	4000	LMNA	OMIM:248370
HP:0006480	Premature loss of teeth	26277	TINF2	OMIM:127550
HP:0006480	Premature loss of teeth	7012	TERC	OMIM:127550
HP:0006480	Premature loss of teeth	7015	TERT	OMIM:127550
HP:0006480	Premature loss of teeth	2697	GJA1	OMIM:164200
HP:0006480	Premature loss of teeth	165	AEBP1	ORPHA:536532
HP:0006480	Premature loss of teeth	11128	POLR3A	ORPHA:3455
HP:0006480	Premature loss of teeth	55343	SLC35C1	ORPHA:99843
HP:0006297	Enamel hypoplasia	265	AMELX	OMIM:301200
HP:0006297	Enamel hypoplasia	9361	LONP1	OMIM:600373
HP:0006297	Enamel hypoplasia	3691	ITGB4	OMIM:226730
HP:0006297	Enamel hypoplasia	3691	ITGB4	ORPHA:79403
HP:0006297	Enamel hypoplasia	3691	ITGB4	ORPHA:79402
HP:0006297	Enamel hypoplasia	3691	ITGB4	ORPHA:251393
HP:0006297	Enamel hypoplasia	5339	PLEC	OMIM:226730
HP:0006297	Enamel hypoplasia	5339	PLEC	OMIM:226670
HP:0006297	Enamel hypoplasia	1161	ERCC8	ORPHA:90324
HP:0006297	Enamel hypoplasia	1161	ERCC8	ORPHA:90321
HP:0006297	Enamel hypoplasia	1161	ERCC8	ORPHA:90322
HP:0006297	Enamel hypoplasia	1161	ERCC8	OMIM:216400
HP:0006297	Enamel hypoplasia	2074	ERCC6	ORPHA:90324
HP:0006297	Enamel hypoplasia	2074	ERCC6	ORPHA:90321
HP:0006297	Enamel hypoplasia	2074	ERCC6	ORPHA:90322
HP:0006297	Enamel hypoplasia	81607	NECTIN4	OMIM:613573
HP:0006297	Enamel hypoplasia	4010	LMX1B	ORPHA:2614
HP:0006297	Enamel hypoplasia	2263	FGFR2	OMIM:149730
HP:0006297	Enamel hypoplasia	2263	FGFR2	ORPHA:2363
HP:0006297	Enamel hypoplasia	2355	FOSL2	OMIM:620789
HP:0006297	Enamel hypoplasia	55746	NUP133	OMIM:618349
HP:0006297	Enamel hypoplasia	2778	GNAS	ORPHA:94089
HP:0006297	Enamel hypoplasia	2778	GNAS	OMIM:612463
HP:0006297	Enamel hypoplasia	2778	GNAS	OMIM:612462
HP:0006297	Enamel hypoplasia	2778	GNAS	ORPHA:79443
HP:0006297	Enamel hypoplasia	2778	GNAS	ORPHA:79444
HP:0006297	Enamel hypoplasia	2778	GNAS	OMIM:103580
HP:0006297	Enamel hypoplasia	8675	STX16	ORPHA:94089
HP:0006297	Enamel hypoplasia	2072	ERCC4	ORPHA:90321
HP:0006297	Enamel hypoplasia	2072	ERCC4	OMIM:610965
HP:0006297	Enamel hypoplasia	2067	ERCC1	ORPHA:90322
HP:0006297	Enamel hypoplasia	64094	SMOC2	OMIM:125400
HP:0006297	Enamel hypoplasia	3655	ITGA6	ORPHA:79403
HP:0006297	Enamel hypoplasia	3909	LAMA3	ORPHA:79404
HP:0006297	Enamel hypoplasia	3909	LAMA3	OMIM:245660
HP:0006297	Enamel hypoplasia	3909	LAMA3	ORPHA:79402
HP:0006297	Enamel hypoplasia	3909	LAMA3	OMIM:226700
HP:0006297	Enamel hypoplasia	3918	LAMC2	ORPHA:79404
HP:0006297	Enamel hypoplasia	3918	LAMC2	ORPHA:79402
HP:0006297	Enamel hypoplasia	3918	LAMC2	OMIM:226700
HP:0006297	Enamel hypoplasia	3914	LAMB3	ORPHA:79404
HP:0006297	Enamel hypoplasia	3914	LAMB3	OMIM:104530
HP:0006297	Enamel hypoplasia	3914	LAMB3	ORPHA:79402
HP:0006297	Enamel hypoplasia	3914	LAMB3	OMIM:226650
HP:0006297	Enamel hypoplasia	3914	LAMB3	OMIM:226700
HP:0006297	Enamel hypoplasia	1308	COL17A1	ORPHA:79406
HP:0006297	Enamel hypoplasia	1308	COL17A1	ORPHA:79402
HP:0006297	Enamel hypoplasia	1308	COL17A1	ORPHA:251393
HP:0006297	Enamel hypoplasia	4312	MMP1	ORPHA:79408
HP:0006297	Enamel hypoplasia	1294	COL7A1	ORPHA:79408
HP:0006297	Enamel hypoplasia	1294	COL7A1	ORPHA:79409
HP:0006297	Enamel hypoplasia	1294	COL7A1	OMIM:226600
HP:0006297	Enamel hypoplasia	1294	COL7A1	ORPHA:79410
HP:0006297	Enamel hypoplasia	1294	COL7A1	ORPHA:79411
HP:0006297	Enamel hypoplasia	57511	COG6	ORPHA:363523
HP:0006297	Enamel hypoplasia	57511	COG6	OMIM:614576
HP:0006297	Enamel hypoplasia	57511	COG6	OMIM:615328
HP:0006297	Enamel hypoplasia	80055	PGAP1	OMIM:615802
HP:0006297	Enamel hypoplasia	10686	CLDN16	OMIM:248250
HP:0006297	Enamel hypoplasia	152816	ODAPH	OMIM:614832
HP:0006297	Enamel hypoplasia	56975	FAM20C	OMIM:259775
HP:0006297	Enamel hypoplasia	6595	SMARCA2	OMIM:619293
HP:0006297	Enamel hypoplasia	79641	ROGDI	OMIM:226750
HP:0006297	Enamel hypoplasia	3694	ITGB6	OMIM:616221
HP:0006297	Enamel hypoplasia	84068	SLC10A7	OMIM:618363
HP:0006297	Enamel hypoplasia	10265	IRX5	OMIM:611174
HP:0006297	Enamel hypoplasia	545	ATR	OMIM:614564
HP:0006297	Enamel hypoplasia	545	ATR	OMIM:210600
HP:0006297	Enamel hypoplasia	3117	HLA-DQA1	OMIM:212750
HP:0006297	Enamel hypoplasia	3119	HLA-DQB1	OMIM:212750
HP:0006297	Enamel hypoplasia	5189	PEX1	OMIM:234580
HP:0006297	Enamel hypoplasia	3759	KCNJ2	OMIM:170390
HP:0006297	Enamel hypoplasia	55764	IFT122	OMIM:218330
HP:0006297	Enamel hypoplasia	222663	SCUBE3	OMIM:619184
HP:0006297	Enamel hypoplasia	860	RUNX2	OMIM:119600
HP:0006297	Enamel hypoplasia	1594	CYP27B1	OMIM:264700
HP:0006297	Enamel hypoplasia	1594	CYP27B1	ORPHA:289157
HP:0006297	Enamel hypoplasia	7421	VDR	OMIM:277440
HP:0006297	Enamel hypoplasia	4591	TRIM37	OMIM:253250
HP:0006297	Enamel hypoplasia	2783	GNB2	OMIM:619503
HP:0006297	Enamel hypoplasia	6304	SATB1	OMIM:619229
HP:0006297	Enamel hypoplasia	5116	PCNT	OMIM:210720
HP:0006297	Enamel hypoplasia	2697	GJA1	OMIM:164200
HP:0006297	Enamel hypoplasia	1747	DLX3	OMIM:104510
HP:0006297	Enamel hypoplasia	64840	PORCN	OMIM:305600
HP:0006297	Enamel hypoplasia	9791	PTDSS1	OMIM:151050
HP:0006297	Enamel hypoplasia	93650	ACP4	OMIM:617297
HP:0006297	Enamel hypoplasia	57217	TTC7A	OMIM:243150
HP:0006297	Enamel hypoplasia	134218	DNAJC21	OMIM:617052
HP:0006297	Enamel hypoplasia	120227	CYP2R1	ORPHA:289157
HP:0006297	Enamel hypoplasia	2033	EP300	OMIM:180849
HP:0006297	Enamel hypoplasia	1387	CREBBP	OMIM:180849
HP:0006297	Enamel hypoplasia	80320	SP6	OMIM:620104
HP:0006297	Enamel hypoplasia	8626	TP63	OMIM:129400
HP:0006297	Enamel hypoplasia	4952	OCRL	OMIM:309000
HP:0006297	Enamel hypoplasia	2255	FGF10	OMIM:620193
HP:0006297	Enamel hypoplasia	2255	FGF10	ORPHA:2363
HP:0006297	Enamel hypoplasia	83479	DDX59	ORPHA:2919
HP:0006297	Enamel hypoplasia	8481	OFD1	OMIM:311200
HP:0006297	Enamel hypoplasia	2261	FGFR3	ORPHA:2363
HP:0006297	Enamel hypoplasia	22995	CEP152	OMIM:613823
HP:0006297	Enamel hypoplasia	9076	CLDN1	OMIM:607626
HP:0006297	Enamel hypoplasia	7355	SLC35A2	OMIM:300896
HP:0006297	Enamel hypoplasia	326	AIRE	OMIM:240300
HP:0006297	Enamel hypoplasia	4763	NF1	ORPHA:139474
HP:0006297	Enamel hypoplasia	79977	GRHL2	OMIM:616029
HP:0006297	Enamel hypoplasia	387	RHOA	OMIM:618727
HP:0006297	Enamel hypoplasia	2591	GALNT3	OMIM:211900
HP:0006297	Enamel hypoplasia	23219	FBXO28	OMIM:619777
HP:0006297	Enamel hypoplasia	1107	CHD3	OMIM:618205
HP:0006297	Enamel hypoplasia	404672	GTF2H5	ORPHA:33364
HP:0006297	Enamel hypoplasia	833	CARS1	ORPHA:33364
HP:0006297	Enamel hypoplasia	2068	ERCC2	ORPHA:33364
HP:0006297	Enamel hypoplasia	7737	RNF113A	ORPHA:33364
HP:0006297	Enamel hypoplasia	136647	MPLKIP	ORPHA:33364
HP:0006297	Enamel hypoplasia	6897	TARS1	ORPHA:33364
HP:0006297	Enamel hypoplasia	16	AARS1	ORPHA:33364
HP:0006297	Enamel hypoplasia	2071	ERCC3	ORPHA:33364
HP:0006297	Enamel hypoplasia	2961	GTF2E2	ORPHA:33364
HP:0006297	Enamel hypoplasia	2317	FLNB	OMIM:272460
HP:0006297	Enamel hypoplasia	1487	CTBP1	OMIM:617915
HP:0006297	Enamel hypoplasia	2260	FGFR1	ORPHA:99798
HP:0006297	Enamel hypoplasia	4487	MSX1	ORPHA:99798
HP:0006297	Enamel hypoplasia	128178	EDARADD	ORPHA:99798
HP:0006297	Enamel hypoplasia	5083	PAX9	ORPHA:99798
HP:0006297	Enamel hypoplasia	7341	SUMO1	ORPHA:99798
HP:0006297	Enamel hypoplasia	80326	WNT10A	ORPHA:99798
HP:0006297	Enamel hypoplasia	1896	EDA	ORPHA:99798
HP:0006297	Enamel hypoplasia	8313	AXIN2	ORPHA:99798
HP:0006297	Enamel hypoplasia	3664	IRF6	ORPHA:99798
HP:0006297	Enamel hypoplasia	4040	LRP6	ORPHA:99798
HP:0006297	Enamel hypoplasia	7039	TGFA	ORPHA:99798
HP:0006297	Enamel hypoplasia	7480	WNT10B	ORPHA:99798
HP:0006297	Enamel hypoplasia	5286	PIK3C2A	ORPHA:557003
HP:0006297	Enamel hypoplasia	224	ALDH3A2	OMIM:270200
HP:0006297	Enamel hypoplasia	1513	CTSK	ORPHA:763
HP:0006297	Enamel hypoplasia	258	AMBN	OMIM:616270
HP:0006297	Enamel hypoplasia	3861	KRT14	ORPHA:69087
HP:0006297	Enamel hypoplasia	3861	KRT14	ORPHA:79396
HP:0006297	Enamel hypoplasia	5062	PAK2	OMIM:618458
HP:0006297	Enamel hypoplasia	3852	KRT5	ORPHA:79396
HP:0006297	Enamel hypoplasia	4038	LRP4	OMIM:212780
HP:0001566	Widely-spaced maxillary central incisors	257	ALX3	OMIM:136760
HP:0001566	Widely-spaced maxillary central incisors	6045	RNF2	OMIM:619460
HP:0001566	Widely-spaced maxillary central incisors	57459	GATAD2B	ORPHA:363686
HP:0001566	Widely-spaced maxillary central incisors	29123	ANKRD11	OMIM:148050
HP:0001566	Widely-spaced maxillary central incisors	29123	ANKRD11	ORPHA:2332
HP:0001566	Widely-spaced maxillary central incisors	22856	CHSY1	ORPHA:363417
HP:0001566	Widely-spaced maxillary central incisors	546	ATRX	OMIM:309580
HP:0001566	Widely-spaced maxillary central incisors	546	ATRX	OMIM:301040
HP:0001566	Widely-spaced maxillary central incisors	10274	STAG1	ORPHA:502434
HP:0001566	Widely-spaced maxillary central incisors	1788	DNMT3A	ORPHA:404443
HP:0001566	Widely-spaced maxillary central incisors	158326	FREM1	OMIM:608980
HP:0001566	Widely-spaced maxillary central incisors	10060	ABCC9	OMIM:619719
HP:0000164	Abnormality of the dentition	7528	YY1	ORPHA:506358
HP:0000164	Abnormality of the dentition	7528	YY1	OMIM:617557
HP:0000164	Abnormality of the dentition	7421	VDR	ORPHA:93160
HP:0000164	Abnormality of the dentition	4621	MYH3	ORPHA:2053
HP:0000164	Abnormality of the dentition	259232	NALCN	ORPHA:2053
HP:0000164	Abnormality of the dentition	23135	KDM6B	OMIM:618505
HP:0000164	Abnormality of the dentition	1947	EFNB1	ORPHA:1520
HP:0000164	Abnormality of the dentition	1947	EFNB1	OMIM:304110
HP:0000164	Abnormality of the dentition	673	BRAF	OMIM:115150
HP:0000164	Abnormality of the dentition	3891	KRT85	OMIM:602032
HP:0000164	Abnormality of the dentition	324	APC	ORPHA:79665
HP:0000164	Abnormality of the dentition	1161	ERCC8	ORPHA:90321
HP:0000164	Abnormality of the dentition	2072	ERCC4	ORPHA:90321
HP:0000164	Abnormality of the dentition	2072	ERCC4	ORPHA:910
HP:0000164	Abnormality of the dentition	2074	ERCC6	ORPHA:90321
HP:0000164	Abnormality of the dentition	64324	NSD1	ORPHA:821
HP:0000164	Abnormality of the dentition	10297	APC2	ORPHA:821
HP:0000164	Abnormality of the dentition	65267	WNK3	OMIM:309610
HP:0000164	Abnormality of the dentition	249	ALPL	OMIM:241500
HP:0000164	Abnormality of the dentition	1855	DVL1	OMIM:616331
HP:0000164	Abnormality of the dentition	121391	KRT74	OMIM:613981
HP:0000164	Abnormality of the dentition	121391	KRT74	ORPHA:90368
HP:0000164	Abnormality of the dentition	121391	KRT74	OMIM:614929
HP:0000164	Abnormality of the dentition	80055	PGAP1	OMIM:615802
HP:0000164	Abnormality of the dentition	2314	FLII	ORPHA:819
HP:0000164	Abnormality of the dentition	23096	IQSEC2	ORPHA:819
HP:0000164	Abnormality of the dentition	10743	RAI1	ORPHA:819
HP:0000164	Abnormality of the dentition	10743	RAI1	OMIM:182290
HP:0000164	Abnormality of the dentition	10522	DEAF1	ORPHA:819
HP:0000164	Abnormality of the dentition	5818	NECTIN1	ORPHA:3253
HP:0000164	Abnormality of the dentition	7015	TERT	OMIM:613989
HP:0000164	Abnormality of the dentition	7015	TERT	ORPHA:1775
HP:0000164	Abnormality of the dentition	57539	WDR35	ORPHA:1515
HP:0000164	Abnormality of the dentition	112752	IFT43	ORPHA:1515
HP:0000164	Abnormality of the dentition	51098	IFT52	ORPHA:1515
HP:0000164	Abnormality of the dentition	55764	IFT122	ORPHA:1515
HP:0000164	Abnormality of the dentition	57728	WDR19	ORPHA:1515
HP:0000164	Abnormality of the dentition	7298	TYMS	OMIM:620040
HP:0000164	Abnormality of the dentition	7298	TYMS	ORPHA:1775
HP:0000164	Abnormality of the dentition	54345	SOX18	OMIM:607823
HP:0000164	Abnormality of the dentition	54880	BCOR	ORPHA:2712
HP:0000164	Abnormality of the dentition	54880	BCOR	ORPHA:568
HP:0000164	Abnormality of the dentition	191	AHCY	OMIM:613752
HP:0000164	Abnormality of the dentition	191	AHCY	ORPHA:88618
HP:0000164	Abnormality of the dentition	64359	NXN	OMIM:618529
HP:0000164	Abnormality of the dentition	64359	NXN	ORPHA:1507
HP:0000164	Abnormality of the dentition	284252	KCTD1	ORPHA:2036
HP:0000164	Abnormality of the dentition	10908	PNPLA6	ORPHA:3363
HP:0000164	Abnormality of the dentition	4920	ROR2	ORPHA:1507
HP:0000164	Abnormality of the dentition	7840	ALMS1	OMIM:203800
HP:0000164	Abnormality of the dentition	546	ATRX	ORPHA:847
HP:0000164	Abnormality of the dentition	83550	GPR101	ORPHA:963
HP:0000164	Abnormality of the dentition	9049	AIP	ORPHA:963
HP:0000164	Abnormality of the dentition	5339	PLEC	ORPHA:79401
HP:0000164	Abnormality of the dentition	7020	TFAP2A	OMIM:113620
HP:0000164	Abnormality of the dentition	5566	PRKACA	ORPHA:289
HP:0000164	Abnormality of the dentition	5567	PRKACB	ORPHA:289
HP:0000164	Abnormality of the dentition	2735	GLI1	ORPHA:289
HP:0000164	Abnormality of the dentition	2121	EVC	ORPHA:289
HP:0000164	Abnormality of the dentition	2121	EVC	ORPHA:952
HP:0000164	Abnormality of the dentition	51626	DYNC2LI1	ORPHA:289
HP:0000164	Abnormality of the dentition	132884	EVC2	ORPHA:289
HP:0000164	Abnormality of the dentition	132884	EVC2	ORPHA:952
HP:0000164	Abnormality of the dentition	1281	COL3A1	ORPHA:286
HP:0000164	Abnormality of the dentition	1280	COL2A1	ORPHA:2380
HP:0000164	Abnormality of the dentition	1280	COL2A1	ORPHA:93315
HP:0000164	Abnormality of the dentition	81848	SPRY4	OMIM:615266
HP:0000164	Abnormality of the dentition	81848	SPRY4	ORPHA:432
HP:0000164	Abnormality of the dentition	1848	DUSP6	OMIM:615269
HP:0000164	Abnormality of the dentition	1848	DUSP6	ORPHA:432
HP:0000164	Abnormality of the dentition	54756	IL17RD	OMIM:615267
HP:0000164	Abnormality of the dentition	23461	ABCA5	ORPHA:2026
HP:0000164	Abnormality of the dentition	1009	CDH11	ORPHA:1299
HP:0000164	Abnormality of the dentition	175	AGA	ORPHA:93
HP:0000164	Abnormality of the dentition	4853	NOTCH2	ORPHA:955
HP:0000164	Abnormality of the dentition	9487	PIGL	ORPHA:3474
HP:0000164	Abnormality of the dentition	4053	LTBP2	OMIM:251750
HP:0000164	Abnormality of the dentition	3981	LIG4	ORPHA:235
HP:0000164	Abnormality of the dentition	54888	NSUN2	ORPHA:235
HP:0000164	Abnormality of the dentition	10804	GJB6	ORPHA:477
HP:0000164	Abnormality of the dentition	10804	GJB6	OMIM:129500
HP:0000164	Abnormality of the dentition	2706	GJB2	ORPHA:477
HP:0000164	Abnormality of the dentition	3043	HBB	ORPHA:231214
HP:0000164	Abnormality of the dentition	3043	HBB	ORPHA:231226
HP:0000164	Abnormality of the dentition	51604	PIGT	OMIM:615398
HP:0000164	Abnormality of the dentition	6774	STAT3	OMIM:615952
HP:0000164	Abnormality of the dentition	6774	STAT3	ORPHA:2314
HP:0000164	Abnormality of the dentition	1041	CDSN	ORPHA:90368
HP:0000164	Abnormality of the dentition	1041	CDSN	OMIM:146520
HP:0000164	Abnormality of the dentition	4803	NGF	ORPHA:64752
HP:0000164	Abnormality of the dentition	4914	NTRK1	ORPHA:64752
HP:0000164	Abnormality of the dentition	8239	USP9X	ORPHA:480880
HP:0000164	Abnormality of the dentition	8239	USP9X	OMIM:300968
HP:0000164	Abnormality of the dentition	5189	PEX1	ORPHA:3220
HP:0000164	Abnormality of the dentition	5190	PEX6	ORPHA:3220
HP:0000164	Abnormality of the dentition	2517	FUCA1	ORPHA:349
HP:0000164	Abnormality of the dentition	79228	THOC6	ORPHA:363444
HP:0000164	Abnormality of the dentition	79813	EHMT1	ORPHA:261652
HP:0000164	Abnormality of the dentition	58508	KMT2C	ORPHA:261652
HP:0000164	Abnormality of the dentition	9533	POLR1C	OMIM:616494
HP:0000164	Abnormality of the dentition	9533	POLR1C	ORPHA:861
HP:0000164	Abnormality of the dentition	4982	TNFRSF11B	ORPHA:2801
HP:0000164	Abnormality of the dentition	8792	TNFRSF11A	ORPHA:2801
HP:0000164	Abnormality of the dentition	2263	FGFR2	ORPHA:2363
HP:0000164	Abnormality of the dentition	2261	FGFR3	ORPHA:2363
HP:0000164	Abnormality of the dentition	2255	FGF10	ORPHA:2363
HP:0000164	Abnormality of the dentition	11128	POLR3A	ORPHA:3455
HP:0000164	Abnormality of the dentition	11107	PRDM5	ORPHA:90354
HP:0000164	Abnormality of the dentition	84627	ZNF469	ORPHA:90354
HP:0000164	Abnormality of the dentition	3481	IGF2	ORPHA:2128
HP:0000164	Abnormality of the dentition	10984	KCNQ1OT1	ORPHA:2128
HP:0000164	Abnormality of the dentition	283120	H19	ORPHA:2128
HP:0000164	Abnormality of the dentition	23314	SATB2	ORPHA:576283
HP:0000164	Abnormality of the dentition	23314	SATB2	ORPHA:251028
HP:0000164	Abnormality of the dentition	5308	PITX2	OMIM:137600
HP:0000164	Abnormality of the dentition	3977	LIFR	ORPHA:3206
HP:0000164	Abnormality of the dentition	3930	LBR	OMIM:169400
HP:0000164	Abnormality of the dentition	1832	DSP	OMIM:612908
HP:0000164	Abnormality of the dentition	1186	CLCN7	ORPHA:53
HP:0000164	Abnormality of the dentition	1186	CLCN7	ORPHA:210110
HP:0000164	Abnormality of the dentition	3861	KRT14	ORPHA:69087
HP:0000164	Abnormality of the dentition	3861	KRT14	ORPHA:79397
HP:0000164	Abnormality of the dentition	3861	KRT14	ORPHA:79399
HP:0000164	Abnormality of the dentition	2629	GBA1	ORPHA:77261
HP:0000164	Abnormality of the dentition	60529	ALX4	ORPHA:228390
HP:0000164	Abnormality of the dentition	585	BBS4	OMIM:615982
HP:0000164	Abnormality of the dentition	4212	MEIS2	ORPHA:261190
HP:0000164	Abnormality of the dentition	2245	FGD1	ORPHA:915
HP:0000164	Abnormality of the dentition	4204	MECP2	OMIM:312750
HP:0000164	Abnormality of the dentition	84181	CHD6	ORPHA:2108
HP:0000164	Abnormality of the dentition	7189	TRAF6	ORPHA:1810
HP:0000164	Abnormality of the dentition	128178	EDARADD	ORPHA:1810
HP:0000164	Abnormality of the dentition	126695	KDF1	ORPHA:1810
HP:0000164	Abnormality of the dentition	10913	EDAR	ORPHA:1810
HP:0000164	Abnormality of the dentition	2068	ERCC2	ORPHA:910
HP:0000164	Abnormality of the dentition	7507	XPA	ORPHA:910
HP:0000164	Abnormality of the dentition	2071	ERCC3	ORPHA:910
HP:0000164	Abnormality of the dentition	7508	XPC	ORPHA:910
HP:0000164	Abnormality of the dentition	1643	DDB2	ORPHA:910
HP:0000164	Abnormality of the dentition	2073	ERCC5	ORPHA:910
HP:0000164	Abnormality of the dentition	4487	MSX1	ORPHA:2228
HP:0000164	Abnormality of the dentition	7227	TRPS1	ORPHA:77258
HP:0000164	Abnormality of the dentition	7227	TRPS1	ORPHA:502
HP:0000164	Abnormality of the dentition	64132	XYLT2	OMIM:605822
HP:0000164	Abnormality of the dentition	2260	FGFR1	ORPHA:432
HP:0000164	Abnormality of the dentition	128674	PROKR2	ORPHA:432
HP:0000164	Abnormality of the dentition	2253	FGF8	ORPHA:432
HP:0000164	Abnormality of the dentition	60675	PROK2	ORPHA:432
HP:0000164	Abnormality of the dentition	55636	CHD7	ORPHA:432
HP:0000164	Abnormality of the dentition	6870	TACR3	ORPHA:432
HP:0000164	Abnormality of the dentition	26012	NSMF	ORPHA:432
HP:0000164	Abnormality of the dentition	55717	WDR11	ORPHA:432
HP:0000164	Abnormality of the dentition	4808	NHLH2	ORPHA:432
HP:0000164	Abnormality of the dentition	9394	HS6ST1	ORPHA:432
HP:0000164	Abnormality of the dentition	2796	GNRH1	ORPHA:432
HP:0000164	Abnormality of the dentition	2798	GNRHR	ORPHA:432
HP:0000164	Abnormality of the dentition	84634	KISS1R	ORPHA:432
HP:0000164	Abnormality of the dentition	6866	TAC3	ORPHA:432
HP:0000164	Abnormality of the dentition	8822	FGF17	ORPHA:432
HP:0000164	Abnormality of the dentition	3814	KISS1	ORPHA:432
HP:0000164	Abnormality of the dentition	147495	APCDD1	OMIM:605389
HP:0000164	Abnormality of the dentition	22856	CHSY1	ORPHA:363417
HP:0000164	Abnormality of the dentition	2335	FN1	ORPHA:93315
HP:0000164	Abnormality of the dentition	9150	CTDP1	OMIM:604168
HP:0000164	Abnormality of the dentition	6651	SON	OMIM:617140
HP:0000164	Abnormality of the dentition	113179	ADAT3	ORPHA:363528
HP:0000164	Abnormality of the dentition	23586	RIGI	OMIM:616298
HP:0000164	Abnormality of the dentition	9342	SNAP29	ORPHA:66631
HP:0000164	Abnormality of the dentition	5167	ENPP1	OMIM:615522
HP:0000164	Abnormality of the dentition	6144	RPL21	OMIM:615885
HP:0000164	Abnormality of the dentition	6905	TBCE	ORPHA:2323
HP:0000164	Abnormality of the dentition	55784	MCTP2	ORPHA:1596
HP:0000164	Abnormality of the dentition	1825	DSC3	OMIM:613102
HP:0000164	Abnormality of the dentition	8085	KMT2D	ORPHA:2322
HP:0000164	Abnormality of the dentition	8085	KMT2D	OMIM:147920
HP:0000164	Abnormality of the dentition	7403	KDM6A	ORPHA:2322
HP:0000164	Abnormality of the dentition	7403	KDM6A	OMIM:147920
HP:0000164	Abnormality of the dentition	51360	MBTPS2	ORPHA:659
HP:0000164	Abnormality of the dentition	162514	TRPV3	ORPHA:659
HP:0000164	Abnormality of the dentition	64065	PERP	ORPHA:659
HP:0000164	Abnormality of the dentition	4000	LMNA	ORPHA:90153
HP:0000164	Abnormality of the dentition	51114	ZDHHC9	ORPHA:776
HP:0000164	Abnormality of the dentition	65109	UPF3B	ORPHA:776
HP:0000164	Abnormality of the dentition	9968	MED12	ORPHA:776
HP:0000164	Abnormality of the dentition	10269	ZMPSTE24	ORPHA:90154
HP:0000164	Abnormality of the dentition	4952	OCRL	ORPHA:534
HP:0000164	Abnormality of the dentition	526	ATP6V1B2	ORPHA:79499
HP:0000164	Abnormality of the dentition	526	ATP6V1B2	ORPHA:79500
HP:0000164	Abnormality of the dentition	147409	DSG4	ORPHA:573
HP:0000164	Abnormality of the dentition	3892	KRT86	ORPHA:573
HP:0000164	Abnormality of the dentition	3889	KRT83	ORPHA:573
HP:0000164	Abnormality of the dentition	3889	KRT83	OMIM:617756
HP:0000164	Abnormality of the dentition	3887	KRT81	ORPHA:573
HP:0000164	Abnormality of the dentition	8260	NAA10	OMIM:300855
HP:0000164	Abnormality of the dentition	8260	NAA10	ORPHA:568
HP:0000164	Abnormality of the dentition	55603	TENT5A	OMIM:617952
HP:0000164	Abnormality of the dentition	92344	GORAB	OMIM:231070
HP:0000164	Abnormality of the dentition	1312	COMT	ORPHA:567
HP:0000164	Abnormality of the dentition	221037	JMJD1C	ORPHA:567
HP:0000164	Abnormality of the dentition	2812	GP1BB	ORPHA:567
HP:0000164	Abnormality of the dentition	6239	RREB1	ORPHA:567
HP:0000164	Abnormality of the dentition	6899	TBX1	ORPHA:567
HP:0000164	Abnormality of the dentition	7290	HIRA	ORPHA:567
HP:0000164	Abnormality of the dentition	9632	SEC24C	ORPHA:567
HP:0000164	Abnormality of the dentition	7353	UFD1	ORPHA:567
HP:0000164	Abnormality of the dentition	421	ARVCF	ORPHA:567
HP:0000164	Abnormality of the dentition	197131	UBR1	ORPHA:2315
HP:0000164	Abnormality of the dentition	1001	CDH3	OMIM:601553
HP:0000164	Abnormality of the dentition	3265	HRAS	ORPHA:3071
HP:0000164	Abnormality of the dentition	7703	PCGF2	OMIM:618371
HP:0000164	Abnormality of the dentition	25942	SIN3A	ORPHA:94065
HP:0000164	Abnormality of the dentition	25942	SIN3A	ORPHA:500166
HP:0000164	Abnormality of the dentition	1301	COL11A1	ORPHA:560
HP:0000164	Abnormality of the dentition	8985	PLOD3	OMIM:612394
HP:0000164	Abnormality of the dentition	860	RUNX2	ORPHA:1452
HP:0000164	Abnormality of the dentition	151516	ASPRV1	ORPHA:313
HP:0000164	Abnormality of the dentition	242	ALOX12B	ORPHA:313
HP:0000164	Abnormality of the dentition	126410	CYP4F22	ORPHA:313
HP:0000164	Abnormality of the dentition	6820	SULT2B1	ORPHA:313
HP:0000164	Abnormality of the dentition	26154	ABCA12	ORPHA:313
HP:0000164	Abnormality of the dentition	643418	LIPN	ORPHA:313
HP:0000164	Abnormality of the dentition	59344	ALOXE3	ORPHA:313
HP:0000164	Abnormality of the dentition	348938	NIPAL4	ORPHA:313
HP:0000164	Abnormality of the dentition	121214	SDR9C7	ORPHA:313
HP:0000164	Abnormality of the dentition	7051	TGM1	ORPHA:313
HP:0000164	Abnormality of the dentition	760	CA2	ORPHA:2785
HP:0000164	Abnormality of the dentition	1075	CTSC	ORPHA:678
HP:0000164	Abnormality of the dentition	80185	TTI2	ORPHA:391307
HP:0000164	Abnormality of the dentition	9791	PTDSS1	OMIM:151050
HP:0000164	Abnormality of the dentition	10312	TCIRG1	ORPHA:210110
HP:0000164	Abnormality of the dentition	9842	PLEKHM1	ORPHA:210110
HP:0000164	Abnormality of the dentition	200879	LIPH	OMIM:604379
HP:0000164	Abnormality of the dentition	10664	CTCF	ORPHA:363611
HP:0000164	Abnormality of the dentition	29957	SLC25A24	ORPHA:2095
HP:0000164	Abnormality of the dentition	157680	VPS13B	ORPHA:193
HP:0000164	Abnormality of the dentition	64840	PORCN	ORPHA:2092
HP:0000164	Abnormality of the dentition	9401	RECQL4	ORPHA:221016
HP:0000164	Abnormality of the dentition	79574	EPS8L3	OMIM:612841
HP:0000164	Abnormality of the dentition	4810	NHS	ORPHA:627
HP:0000164	Abnormality of the dentition	4796	TONSL	OMIM:271510
HP:0000164	Abnormality of the dentition	57465	TBC1D24	ORPHA:79500
HP:0000164	Abnormality of the dentition	189	AGXT	ORPHA:93598
HP:0000164	Abnormality of the dentition	2131	EXT1	ORPHA:502
HP:0000164	Abnormality of the dentition	5885	RAD21	ORPHA:502
HP:0000164	Abnormality of the dentition	84172	POLR1B	ORPHA:861
HP:0000164	Abnormality of the dentition	51082	POLR1D	ORPHA:861
HP:0000164	Abnormality of the dentition	6949	TCOF1	ORPHA:861
HP:0000164	Abnormality of the dentition	6452	SH3BP2	ORPHA:184
HP:0000164	Abnormality of the dentition	79983	POF1B	OMIM:300604
HP:0000164	Abnormality of the dentition	7204	TRIO	ORPHA:476126
HP:0000164	Abnormality of the dentition	10161	LPAR6	OMIM:278150
HP:0000164	Abnormality of the dentition	8626	TP63	ORPHA:978
HP:0000164	Abnormality of the dentition	60681	FKBP10	OMIM:259450
HP:0000164	Abnormality of the dentition	4094	MAF	OMIM:601088
HP:0000164	Abnormality of the dentition	84905	ZNF341	OMIM:618282
HP:0000164	Abnormality of the dentition	5295	PIK3R1	ORPHA:3163
HP:0000164	Abnormality of the dentition	5317	PKP1	ORPHA:158668
HP:0000164	Abnormality of the dentition	89970	RSPRY1	ORPHA:457395
HP:0000164	Abnormality of the dentition	1387	CREBBP	ORPHA:592574
HP:0000164	Abnormality of the dentition	3643	INSR	ORPHA:769
HP:0000164	Abnormality of the dentition	8481	OFD1	ORPHA:2750
HP:0000164	Abnormality of the dentition	5286	PIK3C2A	ORPHA:557003
HP:0000164	Abnormality of the dentition	1513	CTSK	ORPHA:763
HP:0000164	Abnormality of the dentition	23309	SIN3B	ORPHA:500166
HP:0000164	Abnormality of the dentition	65057	ACD	OMIM:616553
HP:0000164	Abnormality of the dentition	80169	CTC1	ORPHA:1775
HP:0000164	Abnormality of the dentition	26277	TINF2	ORPHA:1775
HP:0000164	Abnormality of the dentition	55651	NHP2	ORPHA:1775
HP:0000164	Abnormality of the dentition	79650	USB1	ORPHA:1775
HP:0000164	Abnormality of the dentition	55135	WRAP53	ORPHA:1775
HP:0000164	Abnormality of the dentition	51750	RTEL1	ORPHA:1775
HP:0000164	Abnormality of the dentition	4869	NPM1	ORPHA:1775
HP:0000164	Abnormality of the dentition	7012	TERC	ORPHA:1775
HP:0000164	Abnormality of the dentition	55505	NOP10	ORPHA:1775
HP:0000164	Abnormality of the dentition	5073	PARN	ORPHA:1775
HP:0000164	Abnormality of the dentition	1736	DKC1	ORPHA:1775
HP:0000164	Abnormality of the dentition	157657	CFAP418	OMIM:617406
HP:0000164	Abnormality of the dentition	8074	FGF23	OMIM:193100
HP:0000164	Abnormality of the dentition	3229	HOXC13	OMIM:614931
HP:0000164	Abnormality of the dentition	79693	YRDC	ORPHA:2065
HP:0000164	Abnormality of the dentition	51002	TPRKB	ORPHA:2065
HP:0000164	Abnormality of the dentition	84942	WDR73	ORPHA:2065
HP:0000164	Abnormality of the dentition	55644	OSGEP	ORPHA:2065
HP:0000164	Abnormality of the dentition	57122	NUP107	ORPHA:2065
HP:0000164	Abnormality of the dentition	10785	WDR4	ORPHA:2065
HP:0000164	Abnormality of the dentition	55746	NUP133	ORPHA:2065
HP:0000164	Abnormality of the dentition	84520	GON7	ORPHA:2065
HP:0000164	Abnormality of the dentition	112858	TP53RK	ORPHA:2065
HP:0000164	Abnormality of the dentition	8270	LAGE3	ORPHA:2065
HP:0000164	Abnormality of the dentition	3852	KRT5	ORPHA:79397
HP:0000164	Abnormality of the dentition	3852	KRT5	ORPHA:79399
HP:0000164	Abnormality of the dentition	25886	POC1A	OMIM:614813
HP:0000164	Abnormality of the dentition	3762	KCNJ5	ORPHA:37553
HP:0000164	Abnormality of the dentition	3759	KCNJ2	ORPHA:37553
HP:0000164	Abnormality of the dentition	4322	MMP13	ORPHA:2501
HP:0000164	Abnormality of the dentition	64682	ANAPC1	ORPHA:221008
HP:0000164	Abnormality of the dentition	847	CAT	ORPHA:926
HP:0000164	Abnormality of the dentition	7852	CXCR4	ORPHA:51636
HP:0000164	Abnormality of the dentition	10749	KIF1C	ORPHA:397946
HP:0000164	Abnormality of the dentition	51728	POLR3K	OMIM:619310
HP:0000164	Abnormality of the dentition	51	ACOX1	ORPHA:2971
HP:0000164	Abnormality of the dentition	55593	OTUD5	OMIM:301056
HP:0000164	Abnormality of the dentition	9690	UBE3C	OMIM:620270
HP:0000164	Abnormality of the dentition	387119	CEP85L	OMIM:618873
HP:0000164	Abnormality of the dentition	3313	HSPA9	OMIM:616854
HP:0000164	Abnormality of the dentition	6926	TBX3	ORPHA:3138
HP:0000164	Abnormality of the dentition	6926	TBX3	OMIM:181450
HP:0000164	Abnormality of the dentition	4297	KMT2A	OMIM:605130
HP:0000164	Abnormality of the dentition	10940	POP1	OMIM:617396
HP:0000164	Abnormality of the dentition	25885	POLR1A	OMIM:616462
HP:0000164	Abnormality of the dentition	7080	NKX2-1	ORPHA:209905
HP:0000164	Abnormality of the dentition	8091	HMGA2	ORPHA:94063
HP:0000164	Abnormality of the dentition	23592	LEMD3	ORPHA:94063
HP:0000164	Abnormality of the dentition	55012	PPP2R3C	OMIM:618419
HP:0000164	Abnormality of the dentition	3737	KCNA2	ORPHA:442835
HP:0000164	Abnormality of the dentition	1759	DNM1	ORPHA:442835
HP:0000164	Abnormality of the dentition	8120	AP3B2	ORPHA:442835
HP:0000164	Abnormality of the dentition	10991	SLC38A3	ORPHA:442835
HP:0000164	Abnormality of the dentition	51343	FZR1	ORPHA:442835
HP:0000164	Abnormality of the dentition	3747	KCNC2	ORPHA:442835
HP:0000164	Abnormality of the dentition	1917	EEF1A2	ORPHA:442835
HP:0000164	Abnormality of the dentition	2561	GABRB2	ORPHA:442835
HP:0000164	Abnormality of the dentition	8831	SYNGAP1	ORPHA:442835
HP:0000164	Abnormality of the dentition	2558	GABRA5	ORPHA:442835
HP:0000164	Abnormality of the dentition	2906	GRIN2D	ORPHA:442835
HP:0000164	Abnormality of the dentition	116150	NUS1	ORPHA:442835
HP:0000164	Abnormality of the dentition	1213	CLTC	ORPHA:442835
HP:0000164	Abnormality of the dentition	51741	WWOX	ORPHA:442835
HP:0000164	Abnormality of the dentition	23334	SZT2	ORPHA:442835
HP:0000164	Abnormality of the dentition	348980	HCN1	ORPHA:442835
HP:0000164	Abnormality of the dentition	25977	NECAP1	ORPHA:442835
HP:0000164	Abnormality of the dentition	6334	SCN8A	ORPHA:442835
HP:0000164	Abnormality of the dentition	9568	GABBR2	ORPHA:442835
HP:0000164	Abnormality of the dentition	2555	GABRA2	ORPHA:442835
HP:0000164	Abnormality of the dentition	55152	DALRD3	ORPHA:442835
HP:0000164	Abnormality of the dentition	26999	CYFIP2	ORPHA:442835
HP:0000164	Abnormality of the dentition	4915	NTRK2	ORPHA:442835
HP:0000164	Abnormality of the dentition	25973	PARS2	ORPHA:442835
HP:0000164	Abnormality of the dentition	2257	FGF12	ORPHA:442835
HP:0000164	Abnormality of the dentition	5530	PPP3CA	ORPHA:442835
HP:0000164	Abnormality of the dentition	478	ATP1A3	ORPHA:442835
HP:0000164	Abnormality of the dentition	22906	TRAK1	ORPHA:442835
HP:0000164	Abnormality of the dentition	2566	GABRG2	ORPHA:442835
HP:0000164	Abnormality of the dentition	7532	YWHAG	ORPHA:442835
HP:0000164	Abnormality of the dentition	79876	UBA5	ORPHA:442835
HP:0000164	Abnormality of the dentition	6328	SCN3A	ORPHA:442835
HP:0000164	Abnormality of the dentition	781	CACNA2D1	ORPHA:442835
HP:0000164	Abnormality of the dentition	10659	CELF2	ORPHA:442835
HP:0000164	Abnormality of the dentition	774	CACNA1B	ORPHA:442835
HP:0000164	Abnormality of the dentition	2290	FOXG1	ORPHA:442835
HP:0000164	Abnormality of the dentition	8867	SYNJ1	ORPHA:442835
HP:0000164	Abnormality of the dentition	477	ATP1A2	ORPHA:442835
HP:0000164	Abnormality of the dentition	3745	KCNB1	ORPHA:442835
HP:0000164	Abnormality of the dentition	22866	CNKSR2	ORPHA:442835
HP:0000164	Abnormality of the dentition	773	CACNA1A	ORPHA:442835
HP:0000164	Abnormality of the dentition	6323	SCN1A	ORPHA:442835
HP:0000164	Abnormality of the dentition	79947	DHDDS	ORPHA:442835
HP:0000164	Abnormality of the dentition	53834	FGFRL1	OMIM:194190
HP:0000164	Abnormality of the dentition	10651	MTX2	OMIM:619127
HP:0000164	Abnormality of the dentition	55181	SMG8	OMIM:619268
HP:0000164	Abnormality of the dentition	11342	RNF13	ORPHA:544503
HP:0000164	Abnormality of the dentition	435	ASL	ORPHA:23
HP:0000164	Abnormality of the dentition	5927	KDM5A	OMIM:620820
HP:0000164	Abnormality of the dentition	100033413	SNORD116-1	OMIM:176270
HP:0000164	Abnormality of the dentition	8924	HERC2	OMIM:176270
HP:0000164	Abnormality of the dentition	23742	NPAP1	OMIM:176270
HP:0000164	Abnormality of the dentition	338433	SNORD115-1	OMIM:176270
HP:0000164	Abnormality of the dentition	54551	MAGEL2	OMIM:176270
HP:0000164	Abnormality of the dentition	7681	MKRN3	OMIM:176270
HP:0000164	Abnormality of the dentition	145624	PWAR1	OMIM:176270
HP:0000164	Abnormality of the dentition	3653	IPW	OMIM:176270
HP:0000164	Abnormality of the dentition	791114	PWRN1	OMIM:176270
HP:0000164	Abnormality of the dentition	1308	COL17A1	ORPHA:79406
HP:0000164	Abnormality of the dentition	1308	COL17A1	OMIM:619787
HP:0000164	Abnormality of the dentition	4312	MMP1	ORPHA:79408
HP:0000164	Abnormality of the dentition	1294	COL7A1	ORPHA:79408
HP:0000164	Abnormality of the dentition	1294	COL7A1	ORPHA:79409
HP:0000164	Abnormality of the dentition	1294	COL7A1	ORPHA:89842
HP:0000164	Abnormality of the dentition	1294	COL7A1	ORPHA:79410
HP:0000164	Abnormality of the dentition	1294	COL7A1	ORPHA:79411
HP:0000164	Abnormality of the dentition	57511	COG6	ORPHA:363523
HP:0000164	Abnormality of the dentition	57511	COG6	OMIM:615328
HP:0000164	Abnormality of the dentition	123041	SLC24A4	OMIM:615887
HP:0000164	Abnormality of the dentition	9622	KLK4	OMIM:204700
HP:0000164	Abnormality of the dentition	6573	SLC19A1	OMIM:620603
HP:0000164	Abnormality of the dentition	26504	CNNM4	OMIM:217080
HP:0000164	Abnormality of the dentition	8036	SHOC2	ORPHA:2701
HP:0000164	Abnormality of the dentition	9244	CRLF1	OMIM:272430
HP:0000164	Abnormality of the dentition	84701	COX4I2	OMIM:612714
HP:0000164	Abnormality of the dentition	6628	SNRPB	OMIM:117650
HP:0000164	Abnormality of the dentition	3914	LAMB3	OMIM:226650
HP:0000164	Abnormality of the dentition	3914	LAMB3	OMIM:226700
HP:0000164	Abnormality of the dentition	5184	PEPD	ORPHA:742
HP:0000164	Abnormality of the dentition	55719	SLF2	OMIM:620184
HP:0000164	Abnormality of the dentition	283209	PGM2L1	OMIM:620191
HP:0000164	Abnormality of the dentition	51611	DPH5	OMIM:620070
HP:0000164	Abnormality of the dentition	7750	ZMYM2	OMIM:619522
HP:0000164	Abnormality of the dentition	8643	PTCH2	ORPHA:377
HP:0000164	Abnormality of the dentition	51684	SUFU	ORPHA:377
HP:0000164	Abnormality of the dentition	523	ATP6V1A	ORPHA:357074
HP:0000164	Abnormality of the dentition	404672	GTF2H5	ORPHA:33364
HP:0000164	Abnormality of the dentition	404672	GTF2H5	OMIM:616395
HP:0000164	Abnormality of the dentition	833	CARS1	ORPHA:33364
HP:0000164	Abnormality of the dentition	136647	MPLKIP	ORPHA:33364
HP:0000164	Abnormality of the dentition	6897	TARS1	ORPHA:33364
HP:0000164	Abnormality of the dentition	16	AARS1	ORPHA:33364
HP:0000164	Abnormality of the dentition	2961	GTF2E2	ORPHA:33364
HP:0000164	Abnormality of the dentition	166929	SGMS2	OMIM:126550
HP:0000164	Abnormality of the dentition	3918	LAMC2	OMIM:226700
HP:0000164	Abnormality of the dentition	3909	LAMA3	OMIM:226700
HP:0000164	Abnormality of the dentition	1235	CCR6	ORPHA:220393
HP:0000164	Abnormality of the dentition	1490	CCN2	ORPHA:220393
HP:0000164	Abnormality of the dentition	3663	IRF5	ORPHA:220393
HP:0000164	Abnormality of the dentition	857	CAV1	ORPHA:220393
HP:0000164	Abnormality of the dentition	3123	HLA-DRB1	ORPHA:220393
HP:0000164	Abnormality of the dentition	80067	DCAF17	OMIM:241080
HP:0000164	Abnormality of the dentition	2892	GRIA3	ORPHA:364028
HP:0000164	Abnormality of the dentition	8911	CACNA1I	OMIM:620114
HP:0000164	Abnormality of the dentition	10667	FARS2	ORPHA:466722
HP:0000164	Abnormality of the dentition	84265	POLR3GL	OMIM:619234
HP:0000164	Abnormality of the dentition	26128	KIFBP	OMIM:609460
HP:0000164	Abnormality of the dentition	83999	KREMEN1	OMIM:617392
HP:0000164	Abnormality of the dentition	9698	PUM1	OMIM:620719
HP:0000164	Abnormality of the dentition	79644	SRD5A3	ORPHA:324737
HP:0000164	Abnormality of the dentition	1523	CUX1	OMIM:618330
HP:0000164	Abnormality of the dentition	25871	NEPRO	OMIM:618853
HP:0000164	Abnormality of the dentition	10075	HUWE1	OMIM:309590
HP:0000164	Abnormality of the dentition	9949	AMMECR1	OMIM:300990
HP:0000164	Abnormality of the dentition	875	CBS	ORPHA:394
HP:0000164	Abnormality of the dentition	875	CBS	OMIM:236200
HP:0000164	Abnormality of the dentition	8243	SMC1A	OMIM:301044
HP:0000164	Abnormality of the dentition	6134	RPL10	OMIM:300998
HP:0000164	Abnormality of the dentition	6134	RPL10	ORPHA:435938
HP:0000164	Abnormality of the dentition	341640	FREM2	ORPHA:2052
HP:0000164	Abnormality of the dentition	80144	FRAS1	ORPHA:2052
HP:0000164	Abnormality of the dentition	80144	FRAS1	OMIM:219000
HP:0000164	Abnormality of the dentition	23426	GRIP1	ORPHA:2052
HP:0000164	Abnormality of the dentition	23013	SPEN	OMIM:619312
HP:0000164	Abnormality of the dentition	5351	PLOD1	OMIM:225400
HP:0000164	Abnormality of the dentition	54517	PUS7	OMIM:618342
HP:0000164	Abnormality of the dentition	5648	MASP1	OMIM:257920
HP:0000164	Abnormality of the dentition	5332	PLCB4	OMIM:614669
HP:0000164	Abnormality of the dentition	5332	PLCB4	ORPHA:137888
HP:0000164	Abnormality of the dentition	6418	SET	OMIM:618106
HP:0000164	Abnormality of the dentition	170689	ADAMTS15	OMIM:620545
HP:0000164	Abnormality of the dentition	50814	NSDHL	ORPHA:251383
HP:0000164	Abnormality of the dentition	50814	NSDHL	OMIM:300831
HP:0000164	Abnormality of the dentition	2202	EFEMP1	OMIM:620780
HP:0000164	Abnormality of the dentition	91179	SCARF2	OMIM:600920
HP:0000164	Abnormality of the dentition	4854	NOTCH3	OMIM:130720
HP:0000164	Abnormality of the dentition	4854	NOTCH3	ORPHA:2789
HP:0000164	Abnormality of the dentition	1278	COL1A2	ORPHA:230851
HP:0000164	Abnormality of the dentition	80816	ASXL3	OMIM:615485
HP:0000164	Abnormality of the dentition	80816	ASXL3	ORPHA:352577
HP:0000164	Abnormality of the dentition	55209	SETD5	OMIM:615761
HP:0000164	Abnormality of the dentition	10026	PIGK	OMIM:618879
HP:0000164	Abnormality of the dentition	2033	EP300	ORPHA:353284
HP:0000164	Abnormality of the dentition	2033	EP300	OMIM:180849
HP:0000164	Abnormality of the dentition	2033	EP300	OMIM:613684
HP:0000164	Abnormality of the dentition	1289	COL5A1	OMIM:619329
HP:0000164	Abnormality of the dentition	57231	SNX14	ORPHA:397709
HP:0000164	Abnormality of the dentition	57231	SNX14	OMIM:616354
HP:0000164	Abnormality of the dentition	6660	SOX5	ORPHA:313892
HP:0000164	Abnormality of the dentition	6660	SOX5	OMIM:616803
HP:0000164	Abnormality of the dentition	56992	KIF15	ORPHA:261323
HP:0000164	Abnormality of the dentition	54496	PRMT7	OMIM:617157
HP:0000164	Abnormality of the dentition	816	CAMK2B	OMIM:617799
HP:0000164	Abnormality of the dentition	54543	TOMM7	OMIM:620601
HP:0000164	Abnormality of the dentition	3572	IL6ST	OMIM:618523
HP:0000164	Abnormality of the dentition	201163	FLCN	OMIM:610883
HP:0000164	Abnormality of the dentition	64131	XYLT1	OMIM:615777
HP:0000164	Abnormality of the dentition	84100	ARL6	OMIM:209900
HP:0000164	Abnormality of the dentition	84100	ARL6	ORPHA:110
HP:0000164	Abnormality of the dentition	79140	CCDC28B	OMIM:209900
HP:0000164	Abnormality of the dentition	582	BBS1	OMIM:209900
HP:0000164	Abnormality of the dentition	582	BBS1	ORPHA:110
HP:0000164	Abnormality of the dentition	29940	DSE	OMIM:615539
HP:0000164	Abnormality of the dentition	57190	SELENON	ORPHA:2020
HP:0000164	Abnormality of the dentition	58	ACTA1	ORPHA:2020
HP:0000164	Abnormality of the dentition	4633	MYL2	ORPHA:2020
HP:0000164	Abnormality of the dentition	3679	ITGA7	ORPHA:2020
HP:0000164	Abnormality of the dentition	7169	TPM2	ORPHA:2020
HP:0000164	Abnormality of the dentition	9200	HACD1	ORPHA:2020
HP:0000164	Abnormality of the dentition	7170	TPM3	ORPHA:2020
HP:0000164	Abnormality of the dentition	51776	MAP3K20	ORPHA:2020
HP:0000164	Abnormality of the dentition	84504	NKX6-2	OMIM:617560
HP:0000164	Abnormality of the dentition	5424	POLD1	OMIM:615381
HP:0000164	Abnormality of the dentition	23327	NEDD4L	OMIM:617201
HP:0000164	Abnormality of the dentition	4015	LOX	OMIM:617168
HP:0000164	Abnormality of the dentition	26040	SETBP1	OMIM:616078
HP:0000164	Abnormality of the dentition	25	ABL1	OMIM:617602
HP:0000164	Abnormality of the dentition	545	ATR	OMIM:210600
HP:0000164	Abnormality of the dentition	4591	TRIM37	OMIM:253250
HP:0000164	Abnormality of the dentition	23384	SPECC1L	OMIM:145420
HP:0000164	Abnormality of the dentition	2783	GNB2	OMIM:619503
HP:0000164	Abnormality of the dentition	11193	WBP4	OMIM:620852
HP:0000164	Abnormality of the dentition	1906	EDN1	ORPHA:137888
HP:0000164	Abnormality of the dentition	2773	GNAI3	ORPHA:137888
HP:0000164	Abnormality of the dentition	2773	GNAI3	OMIM:602483
HP:0000164	Abnormality of the dentition	6611	SMS	ORPHA:3063
HP:0000164	Abnormality of the dentition	6611	SMS	OMIM:309583
HP:0000164	Abnormality of the dentition	92482	BBIP1	ORPHA:110
HP:0000164	Abnormality of the dentition	80184	CEP290	ORPHA:110
HP:0000164	Abnormality of the dentition	11020	IFT27	ORPHA:110
HP:0000164	Abnormality of the dentition	49855	SCAPER	ORPHA:110
HP:0000164	Abnormality of the dentition	4867	NPHP1	ORPHA:110
HP:0000164	Abnormality of the dentition	51057	WDPCP	ORPHA:110
HP:0000164	Abnormality of the dentition	132320	SCLT1	ORPHA:110
HP:0000164	Abnormality of the dentition	27241	BBS9	ORPHA:110
HP:0000164	Abnormality of the dentition	84984	CEP19	ORPHA:110
HP:0000164	Abnormality of the dentition	22954	TRIM32	ORPHA:110
HP:0000164	Abnormality of the dentition	54903	MKS1	ORPHA:110
HP:0000164	Abnormality of the dentition	79738	BBS10	ORPHA:110
HP:0000164	Abnormality of the dentition	123016	TTC8	ORPHA:110
HP:0000164	Abnormality of the dentition	26160	IFT172	ORPHA:110
HP:0000164	Abnormality of the dentition	583	BBS2	ORPHA:110
HP:0000164	Abnormality of the dentition	583	BBS2	OMIM:615981
HP:0000164	Abnormality of the dentition	8195	MKKS	ORPHA:110
HP:0000164	Abnormality of the dentition	54585	LZTFL1	ORPHA:110
HP:0000164	Abnormality of the dentition	55212	BBS7	ORPHA:110
HP:0000164	Abnormality of the dentition	166379	BBS12	ORPHA:110
HP:0000164	Abnormality of the dentition	10806	SDCCAG8	ORPHA:110
HP:0000164	Abnormality of the dentition	129880	BBS5	ORPHA:110
HP:0000164	Abnormality of the dentition	80173	IFT74	ORPHA:110
HP:0000164	Abnormality of the dentition	9895	TECPR2	OMIM:615031
HP:0000164	Abnormality of the dentition	9895	TECPR2	ORPHA:320385
HP:0000164	Abnormality of the dentition	57498	KIDINS220	OMIM:617296
HP:0000164	Abnormality of the dentition	57003	CCDC47	OMIM:618268
HP:0000164	Abnormality of the dentition	3590	IL11RA	OMIM:614188
HP:0000164	Abnormality of the dentition	1909	EDNRA	OMIM:616367
HP:0000164	Abnormality of the dentition	2887	GRB10	ORPHA:96182
HP:0000164	Abnormality of the dentition	4247	MGAT2	ORPHA:79329
HP:0000164	Abnormality of the dentition	4841	NONO	OMIM:300967
HP:0000164	Abnormality of the dentition	4841	NONO	ORPHA:466791
HP:0000164	Abnormality of the dentition	8567	MADD	OMIM:619005
HP:0000164	Abnormality of the dentition	163175	LGI4	OMIM:617468
HP:0000164	Abnormality of the dentition	51341	ZBTB7A	OMIM:619769
HP:0000164	Abnormality of the dentition	6329	SCN4A	OMIM:620351
HP:0000164	Abnormality of the dentition	6329	SCN4A	OMIM:620369
HP:0000164	Abnormality of the dentition	113246	C12orf57	OMIM:218340
HP:0000164	Abnormality of the dentition	139285	AMER1	OMIM:300373
HP:0000164	Abnormality of the dentition	3187	HNRNPH1	OMIM:620083
HP:0000164	Abnormality of the dentition	55084	SOBP	OMIM:613671
HP:0000164	Abnormality of the dentition	650	BMP2	OMIM:617877
HP:0000164	Abnormality of the dentition	8815	BANF1	OMIM:614008
HP:0000164	Abnormality of the dentition	4087	SMAD2	OMIM:619657
HP:0000164	Abnormality of the dentition	85459	CEP295	OMIM:620767
HP:0000164	Abnormality of the dentition	7474	WNT5A	OMIM:180700
HP:0000164	Abnormality of the dentition	5965	RECQL	OMIM:620370
HP:0000164	Abnormality of the dentition	11141	IL1RAPL1	OMIM:300143
HP:0000164	Abnormality of the dentition	101929726	MYMX	OMIM:619941
HP:0000164	Abnormality of the dentition	284361	EMC10	OMIM:619264
HP:0000164	Abnormality of the dentition	4921	DDR2	OMIM:618175
HP:0000164	Abnormality of the dentition	7543	ZFX	OMIM:301118
HP:0000164	Abnormality of the dentition	529	ATP6V1E1	OMIM:617402
HP:0000164	Abnormality of the dentition	6878	TAF6	OMIM:617126
HP:0000164	Abnormality of the dentition	5908	RAP1B	OMIM:620654
HP:0000164	Abnormality of the dentition	2591	GALNT3	OMIM:211900
HP:0000164	Abnormality of the dentition	54539	NDUFB11	OMIM:300952
HP:0000164	Abnormality of the dentition	865	CBFB	OMIM:620099
HP:0000164	Abnormality of the dentition	2067	ERCC1	ORPHA:90322
HP:0000164	Abnormality of the dentition	224	ALDH3A2	ORPHA:816
HP:0000164	Abnormality of the dentition	9076	CLDN1	ORPHA:59303
HP:0000164	Abnormality of the dentition	4763	NF1	ORPHA:139474
HP:0000164	Abnormality of the dentition	79641	ROGDI	ORPHA:1946
HP:0000164	Abnormality of the dentition	1349	COX7B	ORPHA:2556
HP:0000164	Abnormality of the dentition	3052	HCCS	ORPHA:2556
HP:0000164	Abnormality of the dentition	64072	CDH23	ORPHA:231169
HP:0000164	Abnormality of the dentition	10083	USH1C	ORPHA:231169
HP:0000164	Abnormality of the dentition	124590	USH1G	ORPHA:231169
HP:0000164	Abnormality of the dentition	83715	ESPN	ORPHA:231169
HP:0000164	Abnormality of the dentition	10518	CIB2	ORPHA:231169
HP:0000164	Abnormality of the dentition	65217	PCDH15	ORPHA:231169
HP:0000164	Abnormality of the dentition	84818	IL17RC	ORPHA:1334
HP:0000164	Abnormality of the dentition	64581	CLEC7A	ORPHA:1334
HP:0000164	Abnormality of the dentition	23765	IL17RA	ORPHA:1334
HP:0000164	Abnormality of the dentition	10758	TRAF3IP2	ORPHA:1334
HP:0000164	Abnormality of the dentition	112744	IL17F	ORPHA:1334
HP:0000164	Abnormality of the dentition	3479	IGF1	ORPHA:73272
HP:0000164	Abnormality of the dentition	55703	POLR3B	OMIM:614381
HP:0000164	Abnormality of the dentition	10491	CRTAP	ORPHA:2050
HP:0000164	Abnormality of the dentition	9871	SEC24D	ORPHA:2050
HP:0000164	Abnormality of the dentition	5034	P4HB	ORPHA:2050
HP:0000164	Abnormality of the dentition	1763	DNA2	OMIM:620819
HP:0000164	Abnormality of the dentition	9820	CUL7	ORPHA:2616
HP:0000164	Abnormality of the dentition	83987	CCDC8	ORPHA:2616
HP:0000164	Abnormality of the dentition	8675	STX16	ORPHA:94089
HP:0000164	Abnormality of the dentition	411	ARSB	OMIM:253200
HP:0000164	Abnormality of the dentition	29887	SNX10	ORPHA:667
HP:0000164	Abnormality of the dentition	8600	TNFSF11	ORPHA:667
HP:0000164	Abnormality of the dentition	114803	MYSM1	ORPHA:508542
HP:0000164	Abnormality of the dentition	63916	ELMO2	ORPHA:3019
HP:0000164	Abnormality of the dentition	9723	SEMA3E	ORPHA:138
HP:0000164	Abnormality of the dentition	134218	DNAJC21	ORPHA:811
HP:0000164	Abnormality of the dentition	79631	EFL1	ORPHA:811
HP:0000164	Abnormality of the dentition	51119	SBDS	ORPHA:811
HP:0000164	Abnormality of the dentition	57492	ARID1B	OMIM:135900
HP:0000164	Abnormality of the dentition	57492	ARID1B	ORPHA:1465
HP:0000164	Abnormality of the dentition	3756	KCNH1	OMIM:135500
HP:0000164	Abnormality of the dentition	3756	KCNH1	ORPHA:420561
HP:0000164	Abnormality of the dentition	8200	GDF5	ORPHA:63442
HP:0000164	Abnormality of the dentition	23522	KAT6B	OMIM:606170
HP:0000164	Abnormality of the dentition	23522	KAT6B	ORPHA:85201
HP:0000164	Abnormality of the dentition	6597	SMARCA4	ORPHA:1465
HP:0000164	Abnormality of the dentition	6598	SMARCB1	ORPHA:1465
HP:0000164	Abnormality of the dentition	6659	SOX4	ORPHA:1465
HP:0000164	Abnormality of the dentition	8289	ARID1A	ORPHA:1465
HP:0000164	Abnormality of the dentition	8289	ARID1A	OMIM:614607
HP:0000164	Abnormality of the dentition	5977	DPF2	ORPHA:1465
HP:0000164	Abnormality of the dentition	6601	SMARCC2	ORPHA:1465
HP:0000164	Abnormality of the dentition	6602	SMARCD1	ORPHA:1465
HP:0000164	Abnormality of the dentition	196528	ARID2	ORPHA:1465
HP:0000164	Abnormality of the dentition	6605	SMARCE1	ORPHA:1465
HP:0000164	Abnormality of the dentition	6664	SOX11	ORPHA:1465
HP:0000164	Abnormality of the dentition	6664	SOX11	OMIM:615866
HP:0000164	Abnormality of the dentition	23545	ATP6V0A2	ORPHA:2834
HP:0000164	Abnormality of the dentition	23545	ATP6V0A2	OMIM:278250
HP:0000164	Abnormality of the dentition	6821	SUOX	OMIM:272300
HP:0000164	Abnormality of the dentition	10815	CPLX1	ORPHA:280
HP:0000164	Abnormality of the dentition	54872	PIGG	ORPHA:280
HP:0000164	Abnormality of the dentition	7469	NELFA	ORPHA:280
HP:0000164	Abnormality of the dentition	1487	CTBP1	ORPHA:280
HP:0000164	Abnormality of the dentition	3954	LETM1	ORPHA:280
HP:0000164	Abnormality of the dentition	7468	NSD2	ORPHA:280
HP:0000164	Abnormality of the dentition	1594	CYP27B1	OMIM:264700
HP:0000164	Abnormality of the dentition	1594	CYP27B1	ORPHA:289157
HP:0000164	Abnormality of the dentition	7067	THRA	OMIM:614450
HP:0000164	Abnormality of the dentition	9321	TRIP11	ORPHA:166272
HP:0000164	Abnormality of the dentition	9321	TRIP11	OMIM:184260
HP:0000164	Abnormality of the dentition	6424	SFRP4	OMIM:265900
HP:0000164	Abnormality of the dentition	120227	CYP2R1	ORPHA:289157
HP:0000164	Abnormality of the dentition	7040	TGFB1	ORPHA:1328
HP:0000164	Abnormality of the dentition	60401	EDA2R	ORPHA:181
HP:0000164	Abnormality of the dentition	60676	PAPPA2	OMIM:619489
HP:0000164	Abnormality of the dentition	5159	PDGFRB	OMIM:601812
HP:0000164	Abnormality of the dentition	5744	PTHLH	OMIM:613382
HP:0000164	Abnormality of the dentition	1806	DPYD	ORPHA:1675
HP:0000164	Abnormality of the dentition	6506	SLC1A2	OMIM:617105
HP:0000164	Abnormality of the dentition	54757	FAM20A	ORPHA:1031
HP:0000164	Abnormality of the dentition	1758	DMP1	ORPHA:289176
HP:0000164	Abnormality of the dentition	79977	GRHL2	OMIM:616029
HP:0000164	Abnormality of the dentition	55315	SLC29A3	ORPHA:1782
HP:0000164	Abnormality of the dentition	4313	MMP2	OMIM:259600
HP:0000164	Abnormality of the dentition	5727	PTCH1	ORPHA:77301
HP:0000164	Abnormality of the dentition	84168	ANTXR1	ORPHA:2067
HP:0000164	Abnormality of the dentition	284111	SLC13A5	OMIM:615905
HP:0000164	Abnormality of the dentition	2690	GHR	ORPHA:633
HP:0000164	Abnormality of the dentition	121340	SP7	OMIM:613849
HP:0000164	Abnormality of the dentition	4750	NEK1	ORPHA:2751
HP:0000164	Abnormality of the dentition	6558	SLC12A2	OMIM:619080
HP:0000164	Abnormality of the dentition	93587	TRMT10A	ORPHA:391408
HP:0000164	Abnormality of the dentition	84919	PPP1R15B	ORPHA:391408
HP:0000164	Abnormality of the dentition	283450	HECTD4	OMIM:620250
HP:0000164	Abnormality of the dentition	51574	LARP7	OMIM:615071
HP:0000164	Abnormality of the dentition	51574	LARP7	ORPHA:319671
HP:0000164	Abnormality of the dentition	8367	H4C5	OMIM:619950
HP:0000164	Abnormality of the dentition	9759	HDAC4	OMIM:619797
HP:0000164	Abnormality of the dentition	1859	DYRK1A	ORPHA:268261
HP:0000164	Abnormality of the dentition	1859	DYRK1A	OMIM:614104
HP:0000164	Abnormality of the dentition	23241	PACS2	OMIM:618067
HP:0000164	Abnormality of the dentition	81607	NECTIN4	OMIM:613573
HP:0000164	Abnormality of the dentition	51126	NAA20	OMIM:619717
HP:0000164	Abnormality of the dentition	23394	ADNP	OMIM:615873
HP:0000164	Abnormality of the dentition	145173	B3GLCT	ORPHA:709
HP:0000164	Abnormality of the dentition	145173	B3GLCT	OMIM:261540
HP:0000164	Abnormality of the dentition	85358	SHANK3	OMIM:606232
HP:0000164	Abnormality of the dentition	26115	TANC2	OMIM:618906
HP:0000164	Abnormality of the dentition	4125	MAN2B1	ORPHA:309282
HP:0000164	Abnormality of the dentition	4125	MAN2B1	OMIM:248500
HP:0000164	Abnormality of the dentition	4054	LTBP3	OMIM:601216
HP:0000164	Abnormality of the dentition	55869	HDAC8	OMIM:300882
HP:0000164	Abnormality of the dentition	55869	HDAC8	ORPHA:199
HP:0000164	Abnormality of the dentition	80232	WDR26	ORPHA:513456
HP:0000164	Abnormality of the dentition	80232	WDR26	OMIM:617616
HP:0000164	Abnormality of the dentition	1747	DLX3	OMIM:190320
HP:0000164	Abnormality of the dentition	1747	DLX3	ORPHA:3352
HP:0000164	Abnormality of the dentition	9578	CDC42BPB	OMIM:619841
HP:0000164	Abnormality of the dentition	10300	KATNB1	OMIM:616212
HP:0000164	Abnormality of the dentition	9442	MED27	OMIM:619286
HP:0000164	Abnormality of the dentition	998	CDC42	OMIM:616737
HP:0000164	Abnormality of the dentition	998	CDC42	ORPHA:487796
HP:0000164	Abnormality of the dentition	10978	CLP1	OMIM:615803
HP:0000164	Abnormality of the dentition	23097	CDK19	OMIM:618916
HP:0000164	Abnormality of the dentition	9126	SMC3	OMIM:610759
HP:0000164	Abnormality of the dentition	9126	SMC3	ORPHA:199
HP:0000164	Abnormality of the dentition	6904	TBCD	ORPHA:496641
HP:0000164	Abnormality of the dentition	6904	TBCD	OMIM:617193
HP:0000164	Abnormality of the dentition	6595	SMARCA2	OMIM:619293
HP:0000164	Abnormality of the dentition	6595	SMARCA2	OMIM:601358
HP:0000164	Abnormality of the dentition	7337	UBE3A	ORPHA:98794
HP:0000164	Abnormality of the dentition	7337	UBE3A	ORPHA:98795
HP:0000164	Abnormality of the dentition	7337	UBE3A	OMIM:105830
HP:0000164	Abnormality of the dentition	7337	UBE3A	ORPHA:411511
HP:0000164	Abnormality of the dentition	4948	OCA2	ORPHA:98794
HP:0000164	Abnormality of the dentition	90	ACVR1	OMIM:135100
HP:0000164	Abnormality of the dentition	55777	MBD5	OMIM:156200
HP:0000164	Abnormality of the dentition	51132	RLIM	OMIM:300978
HP:0000164	Abnormality of the dentition	153642	ARSK	OMIM:619698
HP:0000164	Abnormality of the dentition	23221	RHOBTB2	OMIM:618004
HP:0000164	Abnormality of the dentition	3899	AFF3	OMIM:619297
HP:0000164	Abnormality of the dentition	9739	SETD1A	OMIM:619056
HP:0000164	Abnormality of the dentition	92255	LMBRD2	OMIM:619694
HP:0000164	Abnormality of the dentition	9469	CHST3	OMIM:143095
HP:0000164	Abnormality of the dentition	7965	AIMP2	OMIM:618006
HP:0000164	Abnormality of the dentition	9675	TTI1	OMIM:620445
HP:0000164	Abnormality of the dentition	51109	RDH11	OMIM:616108
HP:0000164	Abnormality of the dentition	23389	MED13L	ORPHA:369891
HP:0000164	Abnormality of the dentition	9496	TBX4	ORPHA:261279
HP:0000164	Abnormality of the dentition	10087	CERT1	OMIM:616351
HP:0000164	Abnormality of the dentition	5277	PIGA	OMIM:300868
HP:0000164	Abnormality of the dentition	5277	PIGA	OMIM:301072
HP:0000164	Abnormality of the dentition	2720	GLB1	OMIM:253010
HP:0000164	Abnormality of the dentition	3340	NDST1	OMIM:616116
HP:0000164	Abnormality of the dentition	6874	TAF4	OMIM:620450
HP:0000164	Abnormality of the dentition	79718	TBL1XR1	ORPHA:487825
HP:0000164	Abnormality of the dentition	79718	TBL1XR1	OMIM:602342
HP:0000164	Abnormality of the dentition	23476	BRD4	ORPHA:199
HP:0000164	Abnormality of the dentition	25836	NIPBL	ORPHA:199
HP:0000164	Abnormality of the dentition	25836	NIPBL	OMIM:122470
HP:0000164	Abnormality of the dentition	93650	ACP4	OMIM:617297
HP:0000164	Abnormality of the dentition	9851	KIAA0753	OMIM:619479
HP:0000164	Abnormality of the dentition	94005	PIGS	OMIM:618143
HP:0000164	Abnormality of the dentition	5792	PTPRF	OMIM:616001
HP:0000164	Abnormality of the dentition	2588	GALNS	OMIM:253000
HP:0000164	Abnormality of the dentition	117581	TWIST2	OMIM:209885
HP:0000164	Abnormality of the dentition	116115	ZNF526	OMIM:619877
HP:0000164	Abnormality of the dentition	3098	HK1	OMIM:618547
HP:0000164	Abnormality of the dentition	6638	SNRPN	OMIM:105830
HP:0000164	Abnormality of the dentition	8314	BAP1	OMIM:619762
HP:0000164	Abnormality of the dentition	5594	MAPK1	OMIM:619087
HP:0000164	Abnormality of the dentition	55755	CDK5RAP2	OMIM:604804
HP:0000164	Abnormality of the dentition	57688	ZSWIM6	OMIM:617865
HP:0000164	Abnormality of the dentition	5500	PPP1CB	OMIM:617506
HP:0000164	Abnormality of the dentition	6748	SSR4	ORPHA:370927
HP:0000164	Abnormality of the dentition	6748	SSR4	OMIM:300934
HP:0000164	Abnormality of the dentition	4677	NARS1	OMIM:619092
HP:0000164	Abnormality of the dentition	26047	CNTNAP2	OMIM:610042
HP:0000164	Abnormality of the dentition	57479	PRR12	OMIM:619539
HP:0000164	Abnormality of the dentition	2990	GUSB	OMIM:253220
HP:0000164	Abnormality of the dentition	1107	CHD3	OMIM:618205
HP:0000164	Abnormality of the dentition	4733	DRG1	OMIM:620641
HP:0000164	Abnormality of the dentition	9742	IFT140	OMIM:266920
HP:0000164	Abnormality of the dentition	1968	EIF2S3	OMIM:300148
HP:0000164	Abnormality of the dentition	5587	PRKD1	OMIM:617364
HP:0000164	Abnormality of the dentition	2703	GJA8	OMIM:612474
HP:0000164	Abnormality of the dentition	2702	GJA5	OMIM:612474
HP:0000164	Abnormality of the dentition	1801	DPH1	ORPHA:459061
HP:0000164	Abnormality of the dentition	1802	DPH2	ORPHA:459061
HP:0000164	Abnormality of the dentition	4088	SMAD3	ORPHA:284984
HP:0000164	Abnormality of the dentition	4088	SMAD3	OMIM:613795
HP:0000164	Abnormality of the dentition	1145	CHRNE	OMIM:608931
HP:0000164	Abnormality of the dentition	2673	GFPT1	OMIM:608931
HP:0000164	Abnormality of the dentition	2972	BRF1	OMIM:616202
HP:0000164	Abnormality of the dentition	2972	BRF1	ORPHA:444072
HP:0000164	Abnormality of the dentition	79912	PYROXD1	OMIM:617258
HP:0000164	Abnormality of the dentition	8818	DPM2	ORPHA:329178
HP:0000164	Abnormality of the dentition	23363	OBSL1	OMIM:612921
HP:0000164	Abnormality of the dentition	10060	ABCC9	OMIM:619719
HP:0000164	Abnormality of the dentition	83479	DDX59	OMIM:174300
HP:0000164	Abnormality of the dentition	1146	CHRNG	OMIM:265000
HP:0000164	Abnormality of the dentition	7102	TSPAN7	OMIM:300210
HP:0000164	Abnormality of the dentition	4141	MARS1	OMIM:619692
HP:0000164	Abnormality of the dentition	10265	IRX5	OMIM:611174
HP:0000164	Abnormality of the dentition	5290	PIK3CA	ORPHA:140944
HP:0000164	Abnormality of the dentition	444	ASPH	OMIM:601552
HP:0000164	Abnormality of the dentition	2778	GNAS	ORPHA:562
HP:0000164	Abnormality of the dentition	1954	MEGF8	OMIM:614976
HP:0000164	Abnormality of the dentition	5573	PRKAR1A	OMIM:101800
HP:0000164	Abnormality of the dentition	8642	DCHS1	OMIM:601390
HP:0000164	Abnormality of the dentition	54	ACP5	ORPHA:1855
HP:0000164	Abnormality of the dentition	57822	GRHL3	OMIM:606713
HP:0000164	Abnormality of the dentition	6938	TCF12	OMIM:615314
HP:0000164	Abnormality of the dentition	286077	FAM83H	OMIM:130900
HP:0000164	Abnormality of the dentition	4534	MTM1	OMIM:310400
HP:0000164	Abnormality of the dentition	2736	GLI2	OMIM:610829
HP:0000164	Abnormality of the dentition	1857	DVL3	OMIM:616894
HP:0000164	Abnormality of the dentition	5075	PAX1	OMIM:615560
HP:0000164	Abnormality of the dentition	51085	MLXIPL	OMIM:194050
HP:0000164	Abnormality of the dentition	4041	LRP5	OMIM:144750
HP:0000164	Abnormality of the dentition	6497	SKI	OMIM:182212
HP:0000164	Abnormality of the dentition	387	RHOA	OMIM:618727
HP:0000164	Abnormality of the dentition	2776	GNAQ	ORPHA:3205
HP:0000164	Abnormality of the dentition	1795	DOCK3	OMIM:618292
HP:0000164	Abnormality of the dentition	27161	AGO2	OMIM:619149
HP:0000164	Abnormality of the dentition	672	BRCA1	OMIM:617883
HP:0000164	Abnormality of the dentition	91252	SLC39A13	OMIM:612350
HP:0000164	Abnormality of the dentition	4654	MYOD1	OMIM:618975
HP:0000164	Abnormality of the dentition	2719	GPC3	OMIM:312870
HP:0000164	Abnormality of the dentition	2239	GPC4	OMIM:312870
HP:0000164	Abnormality of the dentition	5130	PCYT1A	OMIM:608940
HP:0000164	Abnormality of the dentition	6654	SOS1	OMIM:610733
HP:0000164	Abnormality of the dentition	5604	MAP2K1	OMIM:163950
HP:0000164	Abnormality of the dentition	5781	PTPN11	OMIM:163950
HP:0000164	Abnormality of the dentition	641	BLM	OMIM:210900
HP:0000164	Abnormality of the dentition	5361	PLXNA1	OMIM:619955
HP:0000164	Abnormality of the dentition	2296	FOXC1	ORPHA:782
HP:0000164	Abnormality of the dentition	2296	FOXC1	OMIM:602482
HP:0000164	Abnormality of the dentition	5932	RBBP8	OMIM:606744
HP:0000164	Abnormality of the dentition	10982	MAPRE2	OMIM:616734
HP:0000164	Abnormality of the dentition	56975	FAM20C	OMIM:259775
HP:0000164	Abnormality of the dentition	5980	REV3L	ORPHA:570
HP:0000164	Abnormality of the dentition	23129	PLXND1	ORPHA:570
HP:0000164	Abnormality of the dentition	64388	GREM2	OMIM:617275
HP:0000164	Abnormality of the dentition	4998	ORC1	OMIM:224690
HP:0000164	Abnormality of the dentition	5831	PYCR1	OMIM:612940
HP:0000164	Abnormality of the dentition	64919	BCL11B	OMIM:618092
HP:0000164	Abnormality of the dentition	6023	RMRP	OMIM:607095
HP:0000164	Abnormality of the dentition	5116	PCNT	OMIM:210720
HP:0000164	Abnormality of the dentition	5116	PCNT	ORPHA:2637
HP:0000164	Abnormality of the dentition	3425	IDUA	OMIM:607014
HP:0000164	Abnormality of the dentition	9653	HS2ST1	OMIM:619194
HP:0000164	Abnormality of the dentition	7399	USH2A	ORPHA:231178
HP:0000164	Abnormality of the dentition	79955	PDZD7	ORPHA:231178
HP:0000164	Abnormality of the dentition	4647	MYO7A	ORPHA:231178
HP:0000164	Abnormality of the dentition	25861	WHRN	ORPHA:231178
HP:0000164	Abnormality of the dentition	84059	ADGRV1	ORPHA:231178
HP:0000164	Abnormality of the dentition	5281	PIGF	OMIM:619356
HP:0000164	Abnormality of the dentition	79005	SCNM1	OMIM:620107
HP:0000164	Abnormality of the dentition	57192	MCOLN1	ORPHA:578
HP:0000164	Abnormality of the dentition	126792	B3GALT6	ORPHA:536467
HP:0000164	Abnormality of the dentition	775	CACNA1C	OMIM:601005
HP:0000164	Abnormality of the dentition	23219	FBXO28	OMIM:619777
HP:0000164	Abnormality of the dentition	5557	PRIM1	OMIM:620005
HP:0000164	Abnormality of the dentition	26229	B3GAT3	OMIM:245600
HP:0000164	Abnormality of the dentition	8621	CDK13	OMIM:617360
HP:0000164	Abnormality of the dentition	341208	HEPHL1	OMIM:261990
HP:0000164	Abnormality of the dentition	50964	SOST	OMIM:269500
HP:0000164	Abnormality of the dentition	57589	RIC1	OMIM:618761
HP:0000164	Abnormality of the dentition	23347	SMCHD1	ORPHA:2250
HP:0000164	Abnormality of the dentition	56915	EXOSC5	OMIM:619576
HP:0000164	Abnormality of the dentition	5745	PTH1R	OMIM:156400
HP:0000164	Abnormality of the dentition	7518	XRCC4	OMIM:616541
HP:0000164	Abnormality of the dentition	165	AEBP1	OMIM:618000
HP:0000164	Abnormality of the dentition	165	AEBP1	ORPHA:536532
HP:0000164	Abnormality of the dentition	6603	SMARCD2	OMIM:617475
HP:0000164	Abnormality of the dentition	56172	ANKH	OMIM:123000
HP:0000164	Abnormality of the dentition	22930	RAB3GAP1	ORPHA:1387
HP:0000164	Abnormality of the dentition	25782	RAB3GAP2	ORPHA:1387
HP:0000164	Abnormality of the dentition	25782	RAB3GAP2	OMIM:212720
HP:0000164	Abnormality of the dentition	5430	POLR2A	OMIM:618603
HP:0000164	Abnormality of the dentition	9839	ZEB2	OMIM:235730
HP:0000164	Abnormality of the dentition	9839	ZEB2	ORPHA:261537
HP:0000164	Abnormality of the dentition	9839	ZEB2	ORPHA:261552
HP:0000164	Abnormality of the dentition	4848	CNOT2	OMIM:618608
HP:0000164	Abnormality of the dentition	6925	TCF4	ORPHA:2896
HP:0000164	Abnormality of the dentition	2200	FBN1	OMIM:608328
HP:0000164	Abnormality of the dentition	54828	BCAS3	OMIM:619641
HP:0000164	Abnormality of the dentition	5718	PSMD12	ORPHA:529962
HP:0000164	Abnormality of the dentition	2186	BPTF	ORPHA:529962
HP:0000164	Abnormality of the dentition	2316	FLNA	OMIM:309350
HP:0000164	Abnormality of the dentition	2316	FLNA	ORPHA:2484
HP:0000164	Abnormality of the dentition	26834	RNU4-2	OMIM:620851
HP:0000164	Abnormality of the dentition	81794	ADAMTS10	OMIM:277600
HP:0000164	Abnormality of the dentition	6885	MAP3K7	ORPHA:3238
HP:0000164	Abnormality of the dentition	2737	GLI3	ORPHA:672
HP:0000164	Abnormality of the dentition	2737	GLI3	OMIM:146510
HP:0000164	Abnormality of the dentition	3728	JUP	ORPHA:158687
HP:0000164	Abnormality of the dentition	22858	CILK1	OMIM:612651
HP:0000164	Abnormality of the dentition	153241	CEP120	OMIM:616300
HP:0000164	Abnormality of the dentition	27152	INTU	OMIM:617925
HP:0000164	Abnormality of the dentition	7407	VARS1	OMIM:617802
HP:0000164	Abnormality of the dentition	92949	ADAMTSL1	ORPHA:521445
HP:0000164	Abnormality of the dentition	4868	NPHS1	ORPHA:839
HP:0000164	Abnormality of the dentition	54084	TSPEAR	OMIM:618180
HP:0000164	Abnormality of the dentition	9853	RUSC2	OMIM:617773
HP:0000164	Abnormality of the dentition	1500	CTNND1	OMIM:617681
HP:0000164	Abnormality of the dentition	1500	CTNND1	ORPHA:1997
HP:0000164	Abnormality of the dentition	1723	DHODH	OMIM:263750
HP:0000164	Abnormality of the dentition	4792	NFKBIA	OMIM:612132
HP:0000164	Abnormality of the dentition	4792	NFKBIA	ORPHA:98813
HP:0000164	Abnormality of the dentition	8242	KDM5C	OMIM:300534
HP:0000164	Abnormality of the dentition	3778	KCNMA1	OMIM:618729
HP:0000164	Abnormality of the dentition	23137	SMC5	OMIM:620185
HP:0000164	Abnormality of the dentition	51412	ACTL6B	OMIM:618470
HP:0000164	Abnormality of the dentition	89910	UBE3B	OMIM:244450
HP:0000164	Abnormality of the dentition	55690	PACS1	ORPHA:329224
HP:0000164	Abnormality of the dentition	55690	PACS1	OMIM:615009
HP:0000164	Abnormality of the dentition	24142	NAA80	OMIM:620830
HP:0000164	Abnormality of the dentition	55081	IFT57	OMIM:617927
HP:0000164	Abnormality of the dentition	1834	DSPP	OMIM:125500
HP:0000164	Abnormality of the dentition	64094	SMOC2	OMIM:125400
HP:0000164	Abnormality of the dentition	79879	CCDC134	OMIM:619795
HP:0000164	Abnormality of the dentition	5479	PPIB	OMIM:259440
HP:0000164	Abnormality of the dentition	6678	SPARC	OMIM:616507
HP:0000164	Abnormality of the dentition	387733	IFITM5	OMIM:610967
HP:0000164	Abnormality of the dentition	55151	TMEM38B	OMIM:615066
HP:0000164	Abnormality of the dentition	5176	SERPINF1	OMIM:613982
HP:0000164	Abnormality of the dentition	649	BMP1	OMIM:614856
HP:0000164	Abnormality of the dentition	871	SERPINH1	OMIM:613848
HP:0000164	Abnormality of the dentition	64175	P3H1	OMIM:610915
HP:0000164	Abnormality of the dentition	3689	ITGB2	OMIM:116920
HP:0000164	Abnormality of the dentition	716	C1S	ORPHA:75392
HP:0000164	Abnormality of the dentition	716	C1S	OMIM:617174
HP:0000164	Abnormality of the dentition	715	C1R	ORPHA:75392
HP:0000164	Abnormality of the dentition	715	C1R	OMIM:130080
HP:0000164	Abnormality of the dentition	55612	FERMT1	ORPHA:2908
HP:0000164	Abnormality of the dentition	55612	FERMT1	OMIM:173650
HP:0000164	Abnormality of the dentition	2248	FGF3	ORPHA:2791
HP:0000164	Abnormality of the dentition	8546	AP3B1	OMIM:608233
HP:0000164	Abnormality of the dentition	5340	PLG	ORPHA:722
HP:0000164	Abnormality of the dentition	5340	PLG	OMIM:217090
HP:0000164	Abnormality of the dentition	55343	SLC35C1	OMIM:266265
HP:0000164	Abnormality of the dentition	1130	LYST	ORPHA:167
HP:0000164	Abnormality of the dentition	1130	LYST	OMIM:214500
HP:0000164	Abnormality of the dentition	6728	SRP19	ORPHA:486
HP:0000164	Abnormality of the dentition	1991	ELANE	ORPHA:486
HP:0000164	Abnormality of the dentition	1991	ELANE	ORPHA:2686
HP:0000164	Abnormality of the dentition	2672	GFI1	ORPHA:486
HP:0000164	Abnormality of the dentition	81570	CLPB	ORPHA:486
HP:0000164	Abnormality of the dentition	375056	MIA3	OMIM:619269
HP:0000164	Abnormality of the dentition	2542	SLC37A4	ORPHA:79259
HP:0000164	Abnormality of the dentition	256764	WDR72	OMIM:613211
HP:0000164	Abnormality of the dentition	84876	ORAI1	OMIM:612782
HP:0000164	Abnormality of the dentition	6786	STIM1	OMIM:612783
HP:0000164	Abnormality of the dentition	80320	SP6	OMIM:620104
HP:0000164	Abnormality of the dentition	55858	TMEM165	OMIM:614727
HP:0000164	Abnormality of the dentition	149461	CLDN19	OMIM:248190
HP:0000164	Abnormality of the dentition	10686	CLDN16	OMIM:248250
HP:0000164	Abnormality of the dentition	152816	ODAPH	OMIM:614832
HP:0000164	Abnormality of the dentition	401138	AMTN	OMIM:617607
HP:0000164	Abnormality of the dentition	64135	IFIH1	OMIM:182250
HP:0000164	Abnormality of the dentition	221496	LEMD2	OMIM:619322
HP:0000164	Abnormality of the dentition	257	ALX3	OMIM:136760
HP:0000164	Abnormality of the dentition	6045	RNF2	OMIM:619460
HP:0000164	Abnormality of the dentition	57459	GATAD2B	ORPHA:363686
HP:0000164	Abnormality of the dentition	1788	DNMT3A	ORPHA:404443
HP:0000164	Abnormality of the dentition	158326	FREM1	OMIM:608980
HP:0000164	Abnormality of the dentition	3239	HOXD13	OMIM:113300
HP:0000164	Abnormality of the dentition	10084	PQBP1	OMIM:309500
HP:0000164	Abnormality of the dentition	23162	MAPK8IP3	OMIM:618443
HP:0000164	Abnormality of the dentition	29123	ANKRD11	OMIM:148050
HP:0000164	Abnormality of the dentition	29123	ANKRD11	ORPHA:2332
HP:0000164	Abnormality of the dentition	57647	DHX37	OMIM:618731
HP:0000164	Abnormality of the dentition	8558	CDK10	OMIM:617694
HP:0000164	Abnormality of the dentition	738	VPS51	OMIM:618606
HP:0000164	Abnormality of the dentition	10973	ASCC3	OMIM:620700
HP:0000164	Abnormality of the dentition	64093	SMOC1	ORPHA:1106
HP:0000164	Abnormality of the dentition	1277	COL1A1	ORPHA:287
HP:0000164	Abnormality of the dentition	1290	COL5A2	ORPHA:287
HP:0000164	Abnormality of the dentition	1729	DIAPH1	ORPHA:494444
HP:0000164	Abnormality of the dentition	3145	HMBS	OMIM:620704
HP:0000164	Abnormality of the dentition	4784	NFIX	OMIM:614753
HP:0000164	Abnormality of the dentition	3868	KRT16	ORPHA:2309
HP:0000164	Abnormality of the dentition	3872	KRT17	ORPHA:2309
HP:0000164	Abnormality of the dentition	3853	KRT6A	ORPHA:2309
HP:0000164	Abnormality of the dentition	3854	KRT6B	ORPHA:2309
HP:0000164	Abnormality of the dentition	1739	DLG1	ORPHA:199306
HP:0000164	Abnormality of the dentition	999	CDH1	ORPHA:199306
HP:0000164	Abnormality of the dentition	5156	PDGFRA	ORPHA:199306
HP:0000164	Abnormality of the dentition	3664	IRF6	ORPHA:199306
HP:0000164	Abnormality of the dentition	1748	DLX4	ORPHA:199306
HP:0000164	Abnormality of the dentition	652	BMP4	ORPHA:199306
HP:0000164	Abnormality of the dentition	22837	COBLL1	ORPHA:199306
HP:0000164	Abnormality of the dentition	54848	ARHGEF38	ORPHA:199306
HP:0000164	Abnormality of the dentition	9411	ARHGAP29	ORPHA:199306
HP:0000164	Abnormality of the dentition	4010	LMX1B	ORPHA:2614
HP:0000164	Abnormality of the dentition	3655	ITGA6	ORPHA:79403
HP:0000164	Abnormality of the dentition	3117	HLA-DQA1	OMIM:212750
HP:0000164	Abnormality of the dentition	3119	HLA-DQB1	OMIM:212750
HP:0000164	Abnormality of the dentition	57217	TTC7A	OMIM:243150
HP:0000164	Abnormality of the dentition	326	AIRE	OMIM:240300
HP:0000164	Abnormality of the dentition	5062	PAK2	OMIM:618458
HP:0000164	Abnormality of the dentition	10274	STAG1	OMIM:617635
HP:0000164	Abnormality of the dentition	10844	TUBGCP2	OMIM:618737
HP:0000164	Abnormality of the dentition	3149	HMGB3	OMIM:300915
HP:0000164	Abnormality of the dentition	7737	RNF113A	OMIM:300953
HP:0000164	Abnormality of the dentition	28514	DLL1	ORPHA:280200
HP:0000164	Abnormality of the dentition	28514	DLL1	ORPHA:220386
HP:0000164	Abnormality of the dentition	28514	DLL1	ORPHA:93926
HP:0000164	Abnormality of the dentition	28514	DLL1	ORPHA:93924
HP:0000164	Abnormality of the dentition	28514	DLL1	ORPHA:93925
HP:0000164	Abnormality of the dentition	6496	SIX3	ORPHA:280200
HP:0000164	Abnormality of the dentition	6496	SIX3	ORPHA:220386
HP:0000164	Abnormality of the dentition	6496	SIX3	OMIM:157170
HP:0000164	Abnormality of the dentition	6496	SIX3	ORPHA:93926
HP:0000164	Abnormality of the dentition	6496	SIX3	ORPHA:93924
HP:0000164	Abnormality of the dentition	6496	SIX3	ORPHA:93925
HP:0000164	Abnormality of the dentition	7050	TGIF1	ORPHA:280200
HP:0000164	Abnormality of the dentition	7050	TGIF1	ORPHA:220386
HP:0000164	Abnormality of the dentition	7050	TGIF1	ORPHA:93926
HP:0000164	Abnormality of the dentition	7050	TGIF1	ORPHA:93924
HP:0000164	Abnormality of the dentition	7050	TGIF1	ORPHA:93925
HP:0000164	Abnormality of the dentition	4838	NODAL	ORPHA:280200
HP:0000164	Abnormality of the dentition	4838	NODAL	ORPHA:220386
HP:0000164	Abnormality of the dentition	4838	NODAL	ORPHA:93926
HP:0000164	Abnormality of the dentition	4838	NODAL	ORPHA:93924
HP:0000164	Abnormality of the dentition	4838	NODAL	ORPHA:93925
HP:0000164	Abnormality of the dentition	6469	SHH	ORPHA:280200
HP:0000164	Abnormality of the dentition	6469	SHH	ORPHA:220386
HP:0000164	Abnormality of the dentition	6469	SHH	OMIM:147250
HP:0000164	Abnormality of the dentition	6469	SHH	OMIM:142945
HP:0000164	Abnormality of the dentition	6469	SHH	ORPHA:93926
HP:0000164	Abnormality of the dentition	6469	SHH	ORPHA:93924
HP:0000164	Abnormality of the dentition	6469	SHH	ORPHA:93925
HP:0000164	Abnormality of the dentition	7546	ZIC2	ORPHA:280200
HP:0000164	Abnormality of the dentition	7546	ZIC2	ORPHA:220386
HP:0000164	Abnormality of the dentition	7546	ZIC2	ORPHA:93926
HP:0000164	Abnormality of the dentition	7546	ZIC2	ORPHA:93924
HP:0000164	Abnormality of the dentition	7546	ZIC2	ORPHA:93925
HP:0000164	Abnormality of the dentition	2619	GAS1	ORPHA:280200
HP:0000164	Abnormality of the dentition	2619	GAS1	ORPHA:220386
HP:0000164	Abnormality of the dentition	2619	GAS1	ORPHA:93926
HP:0000164	Abnormality of the dentition	2619	GAS1	ORPHA:93924
HP:0000164	Abnormality of the dentition	2619	GAS1	ORPHA:93925
HP:0000164	Abnormality of the dentition	84976	DISP1	ORPHA:280200
HP:0000164	Abnormality of the dentition	84976	DISP1	ORPHA:220386
HP:0000164	Abnormality of the dentition	84976	DISP1	ORPHA:93926
HP:0000164	Abnormality of the dentition	84976	DISP1	ORPHA:93924
HP:0000164	Abnormality of the dentition	84976	DISP1	ORPHA:93925
HP:0000164	Abnormality of the dentition	8928	FOXH1	ORPHA:280200
HP:0000164	Abnormality of the dentition	8928	FOXH1	ORPHA:220386
HP:0000164	Abnormality of the dentition	8928	FOXH1	ORPHA:93926
HP:0000164	Abnormality of the dentition	8928	FOXH1	ORPHA:93924
HP:0000164	Abnormality of the dentition	8928	FOXH1	ORPHA:93925
HP:0000164	Abnormality of the dentition	6997	CRIPTO	ORPHA:280200
HP:0000164	Abnormality of the dentition	6997	CRIPTO	ORPHA:220386
HP:0000164	Abnormality of the dentition	6997	CRIPTO	ORPHA:93926
HP:0000164	Abnormality of the dentition	6997	CRIPTO	ORPHA:93924
HP:0000164	Abnormality of the dentition	6997	CRIPTO	ORPHA:93925
HP:0000164	Abnormality of the dentition	50937	CDON	ORPHA:280200
HP:0000164	Abnormality of the dentition	50937	CDON	ORPHA:220386
HP:0000164	Abnormality of the dentition	50937	CDON	ORPHA:93926
HP:0000164	Abnormality of the dentition	50937	CDON	ORPHA:93924
HP:0000164	Abnormality of the dentition	50937	CDON	ORPHA:93925
HP:0000164	Abnormality of the dentition	23019	CNOT1	ORPHA:556955
HP:0000164	Abnormality of the dentition	10735	STAG2	OMIM:301043
HP:0000164	Abnormality of the dentition	10735	STAG2	ORPHA:220386
HP:0000164	Abnormality of the dentition	10735	STAG2	ORPHA:93925
HP:0000164	Abnormality of the dentition	6491	STIL	ORPHA:220386
HP:0000164	Abnormality of the dentition	6491	STIL	OMIM:612703
HP:0000164	Abnormality of the dentition	6491	STIL	ORPHA:93926
HP:0000164	Abnormality of the dentition	6491	STIL	ORPHA:93924
HP:0000164	Abnormality of the dentition	6491	STIL	ORPHA:93925
HP:0000164	Abnormality of the dentition	4281	MID1	OMIM:300000
HP:0000164	Abnormality of the dentition	23007	PLCH1	ORPHA:93925
HP:0000164	Abnormality of the dentition	64518	TEKT3	OMIM:620277
HP:0000164	Abnormality of the dentition	23102	TBC1D2B	ORPHA:397973
HP:0000164	Abnormality of the dentition	7021	TFAP2B	ORPHA:46627
HP:0000164	Abnormality of the dentition	374654	KIF7	OMIM:200990
HP:0000164	Abnormality of the dentition	51715	RAB23	OMIM:201000
HP:0000164	Abnormality of the dentition	10847	SRCAP	ORPHA:2044
HP:0000164	Abnormality of the dentition	63901	FAM111A	ORPHA:93325
HP:0000164	Abnormality of the dentition	7994	KAT6A	OMIM:616268
HP:0000164	Abnormality of the dentition	50485	SMARCAL1	ORPHA:1830
HP:0000164	Abnormality of the dentition	54499	TMCO1	OMIM:213980
HP:0000164	Abnormality of the dentition	54101	RIPK4	ORPHA:1401
HP:0000164	Abnormality of the dentition	23184	MESD	OMIM:618644
HP:0000164	Abnormality of the dentition	5888	RAD51	OMIM:617244
HP:0000164	Abnormality of the dentition	2317	FLNB	OMIM:272460
HP:0000164	Abnormality of the dentition	9775	EIF4A3	OMIM:268305
HP:0000164	Abnormality of the dentition	3691	ITGB4	OMIM:619816
HP:0000164	Abnormality of the dentition	284654	RSPO1	OMIM:610644
HP:0000164	Abnormality of the dentition	4038	LRP4	OMIM:212780
HP:0000164	Abnormality of the dentition	55131	RBM28	ORPHA:157954
HP:0000164	Abnormality of the dentition	6197	RPS6KA3	ORPHA:192
HP:0000164	Abnormality of the dentition	10484	SEC23A	ORPHA:50814
HP:0000164	Abnormality of the dentition	1593	CYP27A1	ORPHA:909
HP:0000164	Abnormality of the dentition	2355	FOSL2	OMIM:620789
HP:0000164	Abnormality of the dentition	285590	SH3PXD2B	ORPHA:137834
HP:0000164	Abnormality of the dentition	23328	SASH1	OMIM:618373
HP:0000164	Abnormality of the dentition	2697	GJA1	OMIM:164200
HP:0000164	Abnormality of the dentition	11285	B4GALT7	ORPHA:75496
HP:0000164	Abnormality of the dentition	3190	HNRNPK	ORPHA:453504
HP:0000164	Abnormality of the dentition	3190	HNRNPK	ORPHA:352665
HP:0000164	Abnormality of the dentition	5813	PURA	ORPHA:438216
HP:0000164	Abnormality of the dentition	80326	WNT10A	OMIM:257980
HP:0000164	Abnormality of the dentition	80326	WNT10A	OMIM:150400
HP:0000164	Abnormality of the dentition	9508	ADAMTS3	ORPHA:2136
HP:0000164	Abnormality of the dentition	147372	CCBE1	ORPHA:2136
HP:0000164	Abnormality of the dentition	79633	FAT4	ORPHA:2136
HP:0000164	Abnormality of the dentition	6804	STX1A	ORPHA:904
HP:0000164	Abnormality of the dentition	7461	CLIP2	ORPHA:904
HP:0000164	Abnormality of the dentition	84277	DNAJC30	ORPHA:904
HP:0000164	Abnormality of the dentition	8468	FKBP6	ORPHA:904
HP:0000164	Abnormality of the dentition	5982	RFC2	ORPHA:904
HP:0000164	Abnormality of the dentition	2969	GTF2I	ORPHA:904
HP:0000164	Abnormality of the dentition	3984	LIMK1	ORPHA:904
HP:0000164	Abnormality of the dentition	9569	GTF2IRD1	ORPHA:904
HP:0000164	Abnormality of the dentition	155382	VPS37D	ORPHA:904
HP:0000164	Abnormality of the dentition	155368	METTL27	ORPHA:904
HP:0000164	Abnormality of the dentition	114049	BUD23	ORPHA:904
HP:0000164	Abnormality of the dentition	7458	EIF4H	ORPHA:904
HP:0000164	Abnormality of the dentition	84163	GTF2IRD2	ORPHA:904
HP:0000164	Abnormality of the dentition	26608	TBL2	ORPHA:904
HP:0000164	Abnormality of the dentition	653361	NCF1	ORPHA:904
HP:0000164	Abnormality of the dentition	135886	TMEM270	ORPHA:904
HP:0000164	Abnormality of the dentition	9031	BAZ1B	ORPHA:904
HP:0000164	Abnormality of the dentition	2006	ELN	ORPHA:904
HP:0000164	Abnormality of the dentition	118429	ANTXR2	ORPHA:2176
HP:0000164	Abnormality of the dentition	150468	CKAP2L	OMIM:272440
HP:0000164	Abnormality of the dentition	4893	NRAS	OMIM:163200
HP:0000164	Abnormality of the dentition	3845	KRAS	OMIM:163200
HP:0000164	Abnormality of the dentition	79719	AAGAB	OMIM:148600
HP:0000164	Abnormality of the dentition	8517	IKBKG	ORPHA:464
HP:0000164	Abnormality of the dentition	284058	KANSL1	ORPHA:363965
HP:0000164	Abnormality of the dentition	284058	KANSL1	ORPHA:363958
HP:0000164	Abnormality of the dentition	1717	DHCR7	ORPHA:818
HP:0000164	Abnormality of the dentition	3423	IDS	ORPHA:217093
HP:0000164	Abnormality of the dentition	3423	IDS	ORPHA:217085
HP:0000164	Abnormality of the dentition	112802	KRT71	OMIM:615896
HP:0000164	Abnormality of the dentition	1476	CSTB	ORPHA:248
HP:0000164	Abnormality of the dentition	5083	PAX9	ORPHA:99798
HP:0000164	Abnormality of the dentition	7341	SUMO1	ORPHA:99798
HP:0000164	Abnormality of the dentition	1896	EDA	ORPHA:99798
HP:0000164	Abnormality of the dentition	8313	AXIN2	ORPHA:99798
HP:0000164	Abnormality of the dentition	4040	LRP6	ORPHA:99798
HP:0000164	Abnormality of the dentition	7039	TGFA	ORPHA:99798
HP:0000164	Abnormality of the dentition	7480	WNT10B	ORPHA:99798
HP:0000164	Abnormality of the dentition	54795	TRPM4	OMIM:618531
HP:0000164	Abnormality of the dentition	7700	ZNF141	OMIM:615226
HP:0000164	Abnormality of the dentition	267010	RNU12	ORPHA:85199
HP:0000164	Abnormality of the dentition	6304	SATB1	OMIM:619229
HP:0000164	Abnormality of the dentition	9361	LONP1	ORPHA:1458
HP:0000164	Abnormality of the dentition	3694	ITGB6	OMIM:616221
HP:0000164	Abnormality of the dentition	84957	RELT	OMIM:618386
HP:0000164	Abnormality of the dentition	8111	GPR68	OMIM:617217
HP:0000164	Abnormality of the dentition	10117	ENAM	OMIM:204650
HP:0000164	Abnormality of the dentition	9313	MMP20	OMIM:612529
HP:0000164	Abnormality of the dentition	3458	IFNG	OMIM:613254
HP:0000164	Abnormality of the dentition	7249	TSC2	OMIM:613254
HP:0000164	Abnormality of the dentition	7248	TSC1	OMIM:191100
HP:0000164	Abnormality of the dentition	207	AKT1	ORPHA:744
HP:0000164	Abnormality of the dentition	1298	COL9A2	OMIM:600204
HP:0000164	Abnormality of the dentition	84068	SLC10A7	OMIM:618363
HP:0000164	Abnormality of the dentition	1804	DPP6	ORPHA:2514
HP:0000164	Abnormality of the dentition	4001	LMNB1	ORPHA:2514
HP:0000164	Abnormality of the dentition	90993	CREB3L1	OMIM:616229
HP:0000164	Abnormality of the dentition	1062	CENPE	ORPHA:808
HP:0000164	Abnormality of the dentition	79902	NUP85	ORPHA:808
HP:0000164	Abnormality of the dentition	84126	ATRIP	ORPHA:808
HP:0000164	Abnormality of the dentition	10293	TRAIP	ORPHA:808
HP:0000164	Abnormality of the dentition	22995	CEP152	ORPHA:808
HP:0000164	Abnormality of the dentition	10733	PLK4	ORPHA:808
HP:0000164	Abnormality of the dentition	10371	SEMA3A	ORPHA:478
HP:0000164	Abnormality of the dentition	23767	FLRT3	ORPHA:478
HP:0000164	Abnormality of the dentition	79625	NDNF	ORPHA:478
HP:0000164	Abnormality of the dentition	389549	FEZF1	ORPHA:478
HP:0000164	Abnormality of the dentition	1630	DCC	ORPHA:478
HP:0000164	Abnormality of the dentition	3730	ANOS1	ORPHA:478
HP:0000164	Abnormality of the dentition	6663	SOX10	ORPHA:478
HP:0000164	Abnormality of the dentition	285025	CCDC141	ORPHA:478
HP:0000164	Abnormality of the dentition	8820	HESX1	ORPHA:478
HP:0000164	Abnormality of the dentition	265	AMELX	OMIM:301200
HP:0000164	Abnormality of the dentition	5251	PHEX	ORPHA:89936
HP:0000164	Abnormality of the dentition	7291	TWIST1	ORPHA:794
HP:0000164	Abnormality of the dentition	5144	PDE4D	ORPHA:950
HP:0000164	Abnormality of the dentition	2535	FZD2	ORPHA:3107
HP:0000164	Abnormality of the dentition	5728	PTEN	ORPHA:2969
HP:0000164	Abnormality of the dentition	8450	CUL4B	ORPHA:85293
HP:0000164	Abnormality of the dentition	9896	FIG4	ORPHA:3472
HP:0000164	Abnormality of the dentition	55697	VAC14	ORPHA:3472
HP:0000164	Abnormality of the dentition	222663	SCUBE3	OMIM:619184
HP:0000164	Abnormality of the dentition	22827	PUF60	ORPHA:508488
HP:0000164	Abnormality of the dentition	5457	POU4F1	ORPHA:314647
HP:0000164	Abnormality of the dentition	23261	CAMTA1	ORPHA:314647
HP:0000164	Abnormality of the dentition	26005	C2CD3	ORPHA:434179
HP:0000164	Abnormality of the dentition	26005	C2CD3	OMIM:615948
HP:0000164	Abnormality of the dentition	6228	RPS23	OMIM:617412
HP:0000164	Abnormality of the dentition	23630	KCNE5	ORPHA:86818
HP:0000164	Abnormality of the dentition	2182	ACSL4	ORPHA:86818
HP:0000164	Abnormality of the dentition	4488	MSX2	OMIM:604757
HP:0000164	Abnormality of the dentition	3782	KCNN3	ORPHA:3473
HP:0000164	Abnormality of the dentition	258	AMBN	OMIM:616270
HP:0000164	Abnormality of the dentition	23028	KDM1A	ORPHA:477993
HP:0000164	Abnormality of the dentition	51305	KCNK9	ORPHA:166108
HP:0000164	Abnormality of the dentition	6768	ST14	OMIM:602400
HP:0000164	Abnormality of the dentition	7355	SLC35A2	OMIM:300896
HP:0000164	Abnormality of the dentition	23111	SPART	ORPHA:101000
HP:0000164	Abnormality of the dentition	2138	EYA1	OMIM:113650
HP:0000164	Abnormality of the dentition	6495	SIX1	OMIM:113650
HP:0000164	Abnormality of the dentition	3097	HIVEP2	OMIM:616977
HP:0000164	Abnormality of the dentition	3708	ITPR1	OMIM:117360
HP:0000164	Abnormality of the dentition	91801	ALKBH8	OMIM:618504
HP:0000164	Abnormality of the dentition	10848	PPP1R13L	OMIM:620519
HP:0000164	Abnormality of the dentition	7390	UROS	OMIM:263700
HP:0000164	Abnormality of the dentition	7390	UROS	ORPHA:79277
HP:0000164	Abnormality of the dentition	2623	GATA1	ORPHA:79277
HP:0000164	Abnormality of the dentition	7389	UROD	ORPHA:95159
HP:0000164	Abnormality of the dentition	64802	NMNAT1	OMIM:619260
HP:0000164	Abnormality of the dentition	54453	RIN2	ORPHA:217335
HP:0000164	Abnormality of the dentition	54453	RIN2	OMIM:613075
HP:0000164	Abnormality of the dentition	6662	SOX9	OMIM:114290
HP:0000164	Abnormality of the dentition	85440	DOCK7	ORPHA:411986
HP:0000164	Abnormality of the dentition	3339	HSPG2	ORPHA:800
HP:0000164	Abnormality of the dentition	9509	ADAMTS2	OMIM:225410
HP:0006315	Solitary median maxillary central incisor	2260	FGFR1	ORPHA:280200
HP:0006315	Solitary median maxillary central incisor	2260	FGFR1	ORPHA:220386
HP:0006315	Solitary median maxillary central incisor	2260	FGFR1	ORPHA:93924
HP:0006315	Solitary median maxillary central incisor	28514	DLL1	ORPHA:280200
HP:0006315	Solitary median maxillary central incisor	28514	DLL1	ORPHA:220386
HP:0006315	Solitary median maxillary central incisor	28514	DLL1	ORPHA:93926
HP:0006315	Solitary median maxillary central incisor	28514	DLL1	ORPHA:93924
HP:0006315	Solitary median maxillary central incisor	28514	DLL1	ORPHA:93925
HP:0006315	Solitary median maxillary central incisor	2253	FGF8	ORPHA:280200
HP:0006315	Solitary median maxillary central incisor	2253	FGF8	ORPHA:220386
HP:0006315	Solitary median maxillary central incisor	2253	FGF8	ORPHA:93926
HP:0006315	Solitary median maxillary central incisor	2253	FGF8	ORPHA:93924
HP:0006315	Solitary median maxillary central incisor	2253	FGF8	ORPHA:93925
HP:0006315	Solitary median maxillary central incisor	6496	SIX3	ORPHA:280200
HP:0006315	Solitary median maxillary central incisor	6496	SIX3	ORPHA:220386
HP:0006315	Solitary median maxillary central incisor	6496	SIX3	OMIM:157170
HP:0006315	Solitary median maxillary central incisor	6496	SIX3	ORPHA:93926
HP:0006315	Solitary median maxillary central incisor	6496	SIX3	ORPHA:93924
HP:0006315	Solitary median maxillary central incisor	6496	SIX3	ORPHA:93925
HP:0006315	Solitary median maxillary central incisor	7050	TGIF1	ORPHA:280200
HP:0006315	Solitary median maxillary central incisor	7050	TGIF1	ORPHA:220386
HP:0006315	Solitary median maxillary central incisor	7050	TGIF1	ORPHA:93926
HP:0006315	Solitary median maxillary central incisor	7050	TGIF1	ORPHA:93924
HP:0006315	Solitary median maxillary central incisor	7050	TGIF1	ORPHA:93925
HP:0006315	Solitary median maxillary central incisor	4838	NODAL	ORPHA:280200
HP:0006315	Solitary median maxillary central incisor	4838	NODAL	ORPHA:220386
HP:0006315	Solitary median maxillary central incisor	4838	NODAL	ORPHA:93926
HP:0006315	Solitary median maxillary central incisor	4838	NODAL	ORPHA:93924
HP:0006315	Solitary median maxillary central incisor	4838	NODAL	ORPHA:93925
HP:0006315	Solitary median maxillary central incisor	6469	SHH	ORPHA:280200
HP:0006315	Solitary median maxillary central incisor	6469	SHH	ORPHA:220386
HP:0006315	Solitary median maxillary central incisor	6469	SHH	OMIM:147250
HP:0006315	Solitary median maxillary central incisor	6469	SHH	OMIM:142945
HP:0006315	Solitary median maxillary central incisor	6469	SHH	ORPHA:93926
HP:0006315	Solitary median maxillary central incisor	6469	SHH	ORPHA:93924
HP:0006315	Solitary median maxillary central incisor	6469	SHH	ORPHA:93925
HP:0006315	Solitary median maxillary central incisor	51684	SUFU	ORPHA:280200
HP:0006315	Solitary median maxillary central incisor	7546	ZIC2	ORPHA:280200
HP:0006315	Solitary median maxillary central incisor	7546	ZIC2	ORPHA:220386
HP:0006315	Solitary median maxillary central incisor	7546	ZIC2	ORPHA:93926
HP:0006315	Solitary median maxillary central incisor	7546	ZIC2	ORPHA:93924
HP:0006315	Solitary median maxillary central incisor	7546	ZIC2	ORPHA:93925
HP:0006315	Solitary median maxillary central incisor	2619	GAS1	ORPHA:280200
HP:0006315	Solitary median maxillary central incisor	2619	GAS1	ORPHA:220386
HP:0006315	Solitary median maxillary central incisor	2619	GAS1	ORPHA:93926
HP:0006315	Solitary median maxillary central incisor	2619	GAS1	ORPHA:93924
HP:0006315	Solitary median maxillary central incisor	2619	GAS1	ORPHA:93925
HP:0006315	Solitary median maxillary central incisor	84976	DISP1	ORPHA:280200
HP:0006315	Solitary median maxillary central incisor	84976	DISP1	ORPHA:220386
HP:0006315	Solitary median maxillary central incisor	84976	DISP1	ORPHA:93926
HP:0006315	Solitary median maxillary central incisor	84976	DISP1	ORPHA:93924
HP:0006315	Solitary median maxillary central incisor	84976	DISP1	ORPHA:93925
HP:0006315	Solitary median maxillary central incisor	2736	GLI2	ORPHA:280200
HP:0006315	Solitary median maxillary central incisor	2736	GLI2	ORPHA:220386
HP:0006315	Solitary median maxillary central incisor	2736	GLI2	OMIM:610829
HP:0006315	Solitary median maxillary central incisor	2736	GLI2	ORPHA:93926
HP:0006315	Solitary median maxillary central incisor	2736	GLI2	ORPHA:93924
HP:0006315	Solitary median maxillary central incisor	2736	GLI2	ORPHA:93925
HP:0006315	Solitary median maxillary central incisor	8928	FOXH1	ORPHA:280200
HP:0006315	Solitary median maxillary central incisor	8928	FOXH1	ORPHA:220386
HP:0006315	Solitary median maxillary central incisor	8928	FOXH1	ORPHA:93926
HP:0006315	Solitary median maxillary central incisor	8928	FOXH1	ORPHA:93924
HP:0006315	Solitary median maxillary central incisor	8928	FOXH1	ORPHA:93925
HP:0006315	Solitary median maxillary central incisor	6997	CRIPTO	ORPHA:280200
HP:0006315	Solitary median maxillary central incisor	6997	CRIPTO	ORPHA:220386
HP:0006315	Solitary median maxillary central incisor	6997	CRIPTO	ORPHA:93926
HP:0006315	Solitary median maxillary central incisor	6997	CRIPTO	ORPHA:93924
HP:0006315	Solitary median maxillary central incisor	6997	CRIPTO	ORPHA:93925
HP:0006315	Solitary median maxillary central incisor	5727	PTCH1	ORPHA:280200
HP:0006315	Solitary median maxillary central incisor	5727	PTCH1	ORPHA:220386
HP:0006315	Solitary median maxillary central incisor	5727	PTCH1	OMIM:610828
HP:0006315	Solitary median maxillary central incisor	5727	PTCH1	ORPHA:93926
HP:0006315	Solitary median maxillary central incisor	5727	PTCH1	ORPHA:93924
HP:0006315	Solitary median maxillary central incisor	5727	PTCH1	ORPHA:93925
HP:0006315	Solitary median maxillary central incisor	50937	CDON	ORPHA:280200
HP:0006315	Solitary median maxillary central incisor	50937	CDON	ORPHA:220386
HP:0006315	Solitary median maxillary central incisor	50937	CDON	ORPHA:93926
HP:0006315	Solitary median maxillary central incisor	50937	CDON	ORPHA:93924
HP:0006315	Solitary median maxillary central incisor	50937	CDON	ORPHA:93925
HP:0006315	Solitary median maxillary central incisor	23019	CNOT1	ORPHA:556955
HP:0006315	Solitary median maxillary central incisor	10735	STAG2	OMIM:301043
HP:0006315	Solitary median maxillary central incisor	10735	STAG2	ORPHA:220386
HP:0006315	Solitary median maxillary central incisor	10735	STAG2	ORPHA:93925
HP:0006315	Solitary median maxillary central incisor	8243	SMC1A	OMIM:301044
HP:0006315	Solitary median maxillary central incisor	8243	SMC1A	ORPHA:220386
HP:0006315	Solitary median maxillary central incisor	54880	BCOR	ORPHA:2712
HP:0006315	Solitary median maxillary central incisor	6491	STIL	ORPHA:220386
HP:0006315	Solitary median maxillary central incisor	6491	STIL	OMIM:612703
HP:0006315	Solitary median maxillary central incisor	6491	STIL	ORPHA:93926
HP:0006315	Solitary median maxillary central incisor	6491	STIL	ORPHA:93924
HP:0006315	Solitary median maxillary central incisor	6491	STIL	ORPHA:93925
HP:0006315	Solitary median maxillary central incisor	132884	EVC2	OMIM:193530
HP:0006315	Solitary median maxillary central incisor	132884	EVC2	ORPHA:952
HP:0006315	Solitary median maxillary central incisor	2121	EVC	OMIM:193530
HP:0006315	Solitary median maxillary central incisor	2121	EVC	ORPHA:952
HP:0006315	Solitary median maxillary central incisor	4087	SMAD2	OMIM:619657
HP:0006315	Solitary median maxillary central incisor	4281	MID1	OMIM:300000
HP:0006315	Solitary median maxillary central incisor	29123	ANKRD11	ORPHA:261250
HP:0006315	Solitary median maxillary central incisor	23007	PLCH1	ORPHA:93925
HP:0000692	Tooth malposition	9949	AMMECR1	OMIM:300990
HP:0000692	Tooth malposition	875	CBS	ORPHA:394
HP:0000692	Tooth malposition	875	CBS	OMIM:236200
HP:0000692	Tooth malposition	8243	SMC1A	OMIM:301044
HP:0000692	Tooth malposition	6134	RPL10	OMIM:300998
HP:0000692	Tooth malposition	6134	RPL10	ORPHA:435938
HP:0000692	Tooth malposition	1281	COL3A1	OMIM:618343
HP:0000692	Tooth malposition	341640	FREM2	ORPHA:2052
HP:0000692	Tooth malposition	80144	FRAS1	ORPHA:2052
HP:0000692	Tooth malposition	80144	FRAS1	OMIM:219000
HP:0000692	Tooth malposition	23426	GRIP1	ORPHA:2052
HP:0000692	Tooth malposition	23013	SPEN	OMIM:619312
HP:0000692	Tooth malposition	5351	PLOD1	OMIM:225400
HP:0000692	Tooth malposition	54517	PUS7	OMIM:618342
HP:0000692	Tooth malposition	5648	MASP1	OMIM:257920
HP:0000692	Tooth malposition	23314	SATB2	ORPHA:251028
HP:0000692	Tooth malposition	23314	SATB2	ORPHA:251019
HP:0000692	Tooth malposition	23314	SATB2	OMIM:612313
HP:0000692	Tooth malposition	5332	PLCB4	OMIM:614669
HP:0000692	Tooth malposition	5332	PLCB4	ORPHA:137888
HP:0000692	Tooth malposition	6418	SET	OMIM:618106
HP:0000692	Tooth malposition	170689	ADAMTS15	OMIM:620545
HP:0000692	Tooth malposition	50814	NSDHL	ORPHA:251383
HP:0000692	Tooth malposition	50814	NSDHL	OMIM:300831
HP:0000692	Tooth malposition	2202	EFEMP1	OMIM:620780
HP:0000692	Tooth malposition	2263	FGFR2	OMIM:123500
HP:0000692	Tooth malposition	2263	FGFR2	ORPHA:87
HP:0000692	Tooth malposition	2263	FGFR2	OMIM:101600
HP:0000692	Tooth malposition	3481	IGF2	ORPHA:231140
HP:0000692	Tooth malposition	283120	H19	ORPHA:231140
HP:0000692	Tooth malposition	1387	CREBBP	ORPHA:353281
HP:0000692	Tooth malposition	1387	CREBBP	OMIM:180849
HP:0000692	Tooth malposition	1387	CREBBP	ORPHA:353277
HP:0000692	Tooth malposition	91179	SCARF2	OMIM:600920
HP:0000692	Tooth malposition	4854	NOTCH3	OMIM:130720
HP:0000692	Tooth malposition	4854	NOTCH3	ORPHA:2789
HP:0000692	Tooth malposition	1278	COL1A2	ORPHA:230851
HP:0000692	Tooth malposition	80816	ASXL3	OMIM:615485
HP:0000692	Tooth malposition	80816	ASXL3	ORPHA:352577
HP:0000692	Tooth malposition	55209	SETD5	OMIM:615761
HP:0000692	Tooth malposition	1855	DVL1	OMIM:616331
HP:0000692	Tooth malposition	1855	DVL1	OMIM:180700
HP:0000692	Tooth malposition	10026	PIGK	OMIM:618879
HP:0000692	Tooth malposition	2033	EP300	ORPHA:353284
HP:0000692	Tooth malposition	2033	EP300	OMIM:180849
HP:0000692	Tooth malposition	2033	EP300	OMIM:613684
HP:0000692	Tooth malposition	4000	LMNA	OMIM:248370
HP:0000692	Tooth malposition	4000	LMNA	ORPHA:740
HP:0000692	Tooth malposition	1289	COL5A1	OMIM:619329
HP:0000692	Tooth malposition	5190	PEX6	OMIM:616617
HP:0000692	Tooth malposition	51114	ZDHHC9	ORPHA:776
HP:0000692	Tooth malposition	65109	UPF3B	ORPHA:776
HP:0000692	Tooth malposition	9968	MED12	ORPHA:776
HP:0000692	Tooth malposition	9968	MED12	ORPHA:93932
HP:0000692	Tooth malposition	9968	MED12	OMIM:309520
HP:0000692	Tooth malposition	9968	MED12	OMIM:305450
HP:0000692	Tooth malposition	4952	OCRL	ORPHA:534
HP:0000692	Tooth malposition	57231	SNX14	ORPHA:397709
HP:0000692	Tooth malposition	57231	SNX14	OMIM:616354
HP:0000692	Tooth malposition	6660	SOX5	ORPHA:313892
HP:0000692	Tooth malposition	6660	SOX5	OMIM:616803
HP:0000692	Tooth malposition	56992	KIF15	ORPHA:261323
HP:0000692	Tooth malposition	4621	MYH3	OMIM:193700
HP:0000692	Tooth malposition	54496	PRMT7	OMIM:617157
HP:0000692	Tooth malposition	816	CAMK2B	OMIM:617799
HP:0000692	Tooth malposition	54543	TOMM7	OMIM:620601
HP:0000692	Tooth malposition	3572	IL6ST	OMIM:618523
HP:0000692	Tooth malposition	201163	FLCN	OMIM:610883
HP:0000692	Tooth malposition	64131	XYLT1	OMIM:615777
HP:0000692	Tooth malposition	84100	ARL6	OMIM:209900
HP:0000692	Tooth malposition	84100	ARL6	ORPHA:110
HP:0000692	Tooth malposition	79140	CCDC28B	OMIM:209900
HP:0000692	Tooth malposition	582	BBS1	OMIM:209900
HP:0000692	Tooth malposition	582	BBS1	ORPHA:110
HP:0000692	Tooth malposition	29940	DSE	OMIM:615539
HP:0000692	Tooth malposition	3759	KCNJ2	OMIM:170390
HP:0000692	Tooth malposition	3759	KCNJ2	ORPHA:37553
HP:0000692	Tooth malposition	1717	DHCR7	OMIM:270400
HP:0000692	Tooth malposition	222663	SCUBE3	OMIM:619184
HP:0000692	Tooth malposition	7703	PCGF2	OMIM:618371
HP:0000692	Tooth malposition	57190	SELENON	ORPHA:2020
HP:0000692	Tooth malposition	58	ACTA1	ORPHA:2020
HP:0000692	Tooth malposition	4633	MYL2	ORPHA:2020
HP:0000692	Tooth malposition	3679	ITGA7	ORPHA:2020
HP:0000692	Tooth malposition	7169	TPM2	ORPHA:2020
HP:0000692	Tooth malposition	9200	HACD1	ORPHA:2020
HP:0000692	Tooth malposition	7170	TPM3	ORPHA:2020
HP:0000692	Tooth malposition	51776	MAP3K20	ORPHA:2020
HP:0000692	Tooth malposition	84504	NKX6-2	OMIM:617560
HP:0000692	Tooth malposition	5424	POLD1	OMIM:615381
HP:0000692	Tooth malposition	23327	NEDD4L	OMIM:617201
HP:0000692	Tooth malposition	4015	LOX	OMIM:617168
HP:0000692	Tooth malposition	26040	SETBP1	OMIM:616078
HP:0000692	Tooth malposition	25	ABL1	OMIM:617602
HP:0000692	Tooth malposition	545	ATR	OMIM:210600
HP:0000692	Tooth malposition	4591	TRIM37	OMIM:253250
HP:0000692	Tooth malposition	23384	SPECC1L	OMIM:145420
HP:0000692	Tooth malposition	2783	GNB2	OMIM:619503
HP:0000692	Tooth malposition	11193	WBP4	OMIM:620852
HP:0000692	Tooth malposition	1906	EDN1	ORPHA:137888
HP:0000692	Tooth malposition	2773	GNAI3	ORPHA:137888
HP:0000692	Tooth malposition	2773	GNAI3	OMIM:602483
HP:0000692	Tooth malposition	2697	GJA1	OMIM:257850
HP:0000692	Tooth malposition	3981	LIG4	ORPHA:235
HP:0000692	Tooth malposition	54888	NSUN2	ORPHA:235
HP:0000692	Tooth malposition	6611	SMS	ORPHA:3063
HP:0000692	Tooth malposition	6611	SMS	OMIM:309583
HP:0000692	Tooth malposition	92482	BBIP1	ORPHA:110
HP:0000692	Tooth malposition	80184	CEP290	ORPHA:110
HP:0000692	Tooth malposition	11020	IFT27	ORPHA:110
HP:0000692	Tooth malposition	49855	SCAPER	ORPHA:110
HP:0000692	Tooth malposition	4867	NPHP1	ORPHA:110
HP:0000692	Tooth malposition	51057	WDPCP	ORPHA:110
HP:0000692	Tooth malposition	132320	SCLT1	ORPHA:110
HP:0000692	Tooth malposition	27241	BBS9	ORPHA:110
HP:0000692	Tooth malposition	84984	CEP19	ORPHA:110
HP:0000692	Tooth malposition	22954	TRIM32	ORPHA:110
HP:0000692	Tooth malposition	54903	MKS1	ORPHA:110
HP:0000692	Tooth malposition	79738	BBS10	ORPHA:110
HP:0000692	Tooth malposition	123016	TTC8	ORPHA:110
HP:0000692	Tooth malposition	26160	IFT172	ORPHA:110
HP:0000692	Tooth malposition	583	BBS2	ORPHA:110
HP:0000692	Tooth malposition	583	BBS2	OMIM:615981
HP:0000692	Tooth malposition	585	BBS4	ORPHA:110
HP:0000692	Tooth malposition	8195	MKKS	ORPHA:110
HP:0000692	Tooth malposition	54585	LZTFL1	ORPHA:110
HP:0000692	Tooth malposition	55212	BBS7	ORPHA:110
HP:0000692	Tooth malposition	166379	BBS12	ORPHA:110
HP:0000692	Tooth malposition	10806	SDCCAG8	ORPHA:110
HP:0000692	Tooth malposition	157657	CFAP418	ORPHA:110
HP:0000692	Tooth malposition	129880	BBS5	ORPHA:110
HP:0000692	Tooth malposition	80173	IFT74	ORPHA:110
HP:0000692	Tooth malposition	10269	ZMPSTE24	OMIM:608612
HP:0000692	Tooth malposition	10269	ZMPSTE24	ORPHA:740
HP:0000692	Tooth malposition	9895	TECPR2	OMIM:615031
HP:0000692	Tooth malposition	9895	TECPR2	ORPHA:320385
HP:0000692	Tooth malposition	57498	KIDINS220	OMIM:617296
HP:0000692	Tooth malposition	57003	CCDC47	OMIM:618268
HP:0000692	Tooth malposition	3590	IL11RA	OMIM:614188
HP:0000692	Tooth malposition	7204	TRIO	OMIM:618825
HP:0000692	Tooth malposition	7204	TRIO	OMIM:617061
HP:0000692	Tooth malposition	7204	TRIO	ORPHA:476126
HP:0000692	Tooth malposition	1909	EDNRA	OMIM:616367
HP:0000692	Tooth malposition	2887	GRB10	ORPHA:96182
HP:0000692	Tooth malposition	4247	MGAT2	ORPHA:79329
HP:0000692	Tooth malposition	4841	NONO	OMIM:300967
HP:0000692	Tooth malposition	4841	NONO	ORPHA:466791
HP:0000692	Tooth malposition	8567	MADD	OMIM:619005
HP:0000692	Tooth malposition	6197	RPS6KA3	OMIM:300844
HP:0000692	Tooth malposition	163175	LGI4	OMIM:617468
HP:0000692	Tooth malposition	51341	ZBTB7A	OMIM:619769
HP:0000692	Tooth malposition	6329	SCN4A	OMIM:620351
HP:0000692	Tooth malposition	6329	SCN4A	OMIM:620369
HP:0000692	Tooth malposition	113246	C12orf57	OMIM:218340
HP:0000692	Tooth malposition	139285	AMER1	OMIM:300373
HP:0000692	Tooth malposition	3187	HNRNPH1	OMIM:620083
HP:0000692	Tooth malposition	4920	ROR2	OMIM:268310
HP:0000692	Tooth malposition	55084	SOBP	OMIM:613671
HP:0000692	Tooth malposition	650	BMP2	OMIM:617877
HP:0000692	Tooth malposition	8815	BANF1	OMIM:614008
HP:0000692	Tooth malposition	4087	SMAD2	OMIM:619657
HP:0000692	Tooth malposition	85459	CEP295	OMIM:620767
HP:0000692	Tooth malposition	3643	INSR	ORPHA:769
HP:0000692	Tooth malposition	7474	WNT5A	OMIM:180700
HP:0000692	Tooth malposition	5965	RECQL	OMIM:620370
HP:0000692	Tooth malposition	11141	IL1RAPL1	OMIM:300143
HP:0000692	Tooth malposition	101929726	MYMX	OMIM:619941
HP:0000692	Tooth malposition	284361	EMC10	OMIM:619264
HP:0000692	Tooth malposition	4921	DDR2	OMIM:618175
HP:0000692	Tooth malposition	7543	ZFX	OMIM:301118
HP:0000692	Tooth malposition	2260	FGFR1	OMIM:101600
HP:0000692	Tooth malposition	529	ATP6V1E1	OMIM:617402
HP:0000692	Tooth malposition	6878	TAF6	OMIM:617126
HP:0000692	Tooth malposition	5908	RAP1B	OMIM:620654
HP:0000692	Tooth malposition	7227	TRPS1	OMIM:190351
HP:0000692	Tooth malposition	3762	KCNJ5	ORPHA:37553
HP:0000692	Tooth malposition	51574	LARP7	OMIM:615071
HP:0000692	Tooth malposition	51574	LARP7	ORPHA:319671
HP:0000692	Tooth malposition	8367	H4C5	OMIM:619950
HP:0000692	Tooth malposition	9759	HDAC4	OMIM:619797
HP:0000692	Tooth malposition	1859	DYRK1A	ORPHA:268261
HP:0000692	Tooth malposition	1859	DYRK1A	OMIM:614104
HP:0000692	Tooth malposition	60529	ALX4	OMIM:613451
HP:0000692	Tooth malposition	23241	PACS2	OMIM:618067
HP:0000692	Tooth malposition	81607	NECTIN4	OMIM:613573
HP:0000692	Tooth malposition	51126	NAA20	OMIM:619717
HP:0000692	Tooth malposition	23394	ADNP	OMIM:615873
HP:0000692	Tooth malposition	57539	WDR35	OMIM:613610
HP:0000692	Tooth malposition	145173	B3GLCT	ORPHA:709
HP:0000692	Tooth malposition	145173	B3GLCT	OMIM:261540
HP:0000692	Tooth malposition	85358	SHANK3	OMIM:606232
HP:0000692	Tooth malposition	23028	KDM1A	OMIM:616728
HP:0000692	Tooth malposition	23028	KDM1A	ORPHA:477993
HP:0000692	Tooth malposition	26115	TANC2	OMIM:618906
HP:0000692	Tooth malposition	4125	MAN2B1	ORPHA:309282
HP:0000692	Tooth malposition	4125	MAN2B1	OMIM:248500
HP:0000692	Tooth malposition	4054	LTBP3	OMIM:601216
HP:0000692	Tooth malposition	55869	HDAC8	OMIM:300882
HP:0000692	Tooth malposition	55869	HDAC8	ORPHA:199
HP:0000692	Tooth malposition	80232	WDR26	ORPHA:513456
HP:0000692	Tooth malposition	80232	WDR26	OMIM:617616
HP:0000692	Tooth malposition	1747	DLX3	OMIM:190320
HP:0000692	Tooth malposition	1747	DLX3	ORPHA:3352
HP:0000692	Tooth malposition	9578	CDC42BPB	OMIM:619841
HP:0000692	Tooth malposition	10300	KATNB1	OMIM:616212
HP:0000692	Tooth malposition	9442	MED27	OMIM:619286
HP:0000692	Tooth malposition	8085	KMT2D	ORPHA:2322
HP:0000692	Tooth malposition	8085	KMT2D	OMIM:147920
HP:0000692	Tooth malposition	7403	KDM6A	ORPHA:2322
HP:0000692	Tooth malposition	7403	KDM6A	OMIM:147920
HP:0000692	Tooth malposition	998	CDC42	OMIM:616737
HP:0000692	Tooth malposition	998	CDC42	ORPHA:487796
HP:0000692	Tooth malposition	10978	CLP1	OMIM:615803
HP:0000692	Tooth malposition	23097	CDK19	OMIM:618916
HP:0000692	Tooth malposition	9126	SMC3	OMIM:610759
HP:0000692	Tooth malposition	9126	SMC3	ORPHA:199
HP:0000692	Tooth malposition	8626	TP63	OMIM:106260
HP:0000692	Tooth malposition	6904	TBCD	ORPHA:496641
HP:0000692	Tooth malposition	6904	TBCD	OMIM:617193
HP:0000692	Tooth malposition	6595	SMARCA2	OMIM:619293
HP:0000692	Tooth malposition	6595	SMARCA2	OMIM:601358
HP:0000692	Tooth malposition	7337	UBE3A	ORPHA:98794
HP:0000692	Tooth malposition	7337	UBE3A	ORPHA:98795
HP:0000692	Tooth malposition	7337	UBE3A	OMIM:105830
HP:0000692	Tooth malposition	7337	UBE3A	ORPHA:411511
HP:0000692	Tooth malposition	4948	OCA2	ORPHA:98794
HP:0000692	Tooth malposition	90	ACVR1	OMIM:135100
HP:0000692	Tooth malposition	55777	MBD5	OMIM:156200
HP:0000692	Tooth malposition	51132	RLIM	OMIM:300978
HP:0000692	Tooth malposition	153642	ARSK	OMIM:619698
HP:0000692	Tooth malposition	23221	RHOBTB2	OMIM:618004
HP:0000692	Tooth malposition	3899	AFF3	OMIM:619297
HP:0000692	Tooth malposition	9739	SETD1A	OMIM:619056
HP:0000692	Tooth malposition	92255	LMBRD2	OMIM:619694
HP:0000692	Tooth malposition	9469	CHST3	OMIM:143095
HP:0000692	Tooth malposition	7965	AIMP2	OMIM:618006
HP:0000692	Tooth malposition	9675	TTI1	OMIM:620445
HP:0000692	Tooth malposition	51109	RDH11	OMIM:616108
HP:0000692	Tooth malposition	23389	MED13L	ORPHA:369891
HP:0000692	Tooth malposition	83550	GPR101	ORPHA:963
HP:0000692	Tooth malposition	83550	GPR101	OMIM:300942
HP:0000692	Tooth malposition	9049	AIP	ORPHA:963
HP:0000692	Tooth malposition	55764	IFT122	OMIM:218330
HP:0000692	Tooth malposition	2248	FGF3	ORPHA:90024
HP:0000692	Tooth malposition	2248	FGF3	OMIM:610706
HP:0000692	Tooth malposition	9496	TBX4	ORPHA:261279
HP:0000692	Tooth malposition	10087	CERT1	OMIM:616351
HP:0000692	Tooth malposition	5277	PIGA	OMIM:300868
HP:0000692	Tooth malposition	5277	PIGA	OMIM:301072
HP:0000692	Tooth malposition	2720	GLB1	OMIM:253010
HP:0000692	Tooth malposition	3340	NDST1	OMIM:616116
HP:0000692	Tooth malposition	6304	SATB1	OMIM:619229
HP:0000692	Tooth malposition	6874	TAF4	OMIM:620450
HP:0000692	Tooth malposition	79718	TBL1XR1	ORPHA:487825
HP:0000692	Tooth malposition	79718	TBL1XR1	OMIM:602342
HP:0000692	Tooth malposition	23476	BRD4	ORPHA:199
HP:0000692	Tooth malposition	25836	NIPBL	ORPHA:199
HP:0000692	Tooth malposition	25836	NIPBL	OMIM:122470
HP:0000692	Tooth malposition	5885	RAD21	ORPHA:199
HP:0000692	Tooth malposition	93650	ACP4	OMIM:617297
HP:0000692	Tooth malposition	9851	KIAA0753	OMIM:619479
HP:0000692	Tooth malposition	94005	PIGS	OMIM:618143
HP:0000692	Tooth malposition	5792	PTPRF	OMIM:616001
HP:0000692	Tooth malposition	2588	GALNS	OMIM:253000
HP:0000692	Tooth malposition	1001	CDH3	OMIM:225280
HP:0000692	Tooth malposition	1001	CDH3	ORPHA:1897
HP:0000692	Tooth malposition	117581	TWIST2	OMIM:209885
HP:0000692	Tooth malposition	116115	ZNF526	OMIM:619877
HP:0000692	Tooth malposition	3098	HK1	OMIM:618547
HP:0000692	Tooth malposition	6638	SNRPN	OMIM:105830
HP:0000692	Tooth malposition	526	ATP6V1B2	ORPHA:79500
HP:0000692	Tooth malposition	57465	TBC1D24	ORPHA:79500
HP:0000692	Tooth malposition	2255	FGF10	OMIM:620193
HP:0000692	Tooth malposition	8314	BAP1	OMIM:619762
HP:0000692	Tooth malposition	5594	MAPK1	OMIM:619087
HP:0000692	Tooth malposition	55755	CDK5RAP2	OMIM:604804
HP:0000692	Tooth malposition	51098	IFT52	OMIM:617102
HP:0000692	Tooth malposition	57688	ZSWIM6	OMIM:617865
HP:0000692	Tooth malposition	5500	PPP1CB	OMIM:617506
HP:0000692	Tooth malposition	6748	SSR4	ORPHA:370927
HP:0000692	Tooth malposition	6748	SSR4	OMIM:300934
HP:0000692	Tooth malposition	4677	NARS1	OMIM:619092
HP:0000692	Tooth malposition	3423	IDS	OMIM:309900
HP:0000692	Tooth malposition	26047	CNTNAP2	OMIM:610042
HP:0000692	Tooth malposition	57479	PRR12	OMIM:619539
HP:0000692	Tooth malposition	2990	GUSB	OMIM:253220
HP:0000692	Tooth malposition	9487	PIGL	OMIM:280000
HP:0000692	Tooth malposition	284058	KANSL1	OMIM:610443
HP:0000692	Tooth malposition	1107	CHD3	OMIM:618205
HP:0000692	Tooth malposition	4733	DRG1	OMIM:620641
HP:0000692	Tooth malposition	4487	MSX1	ORPHA:99798
HP:0000692	Tooth malposition	128178	EDARADD	ORPHA:99798
HP:0000692	Tooth malposition	5083	PAX9	ORPHA:99798
HP:0000692	Tooth malposition	7341	SUMO1	ORPHA:99798
HP:0000692	Tooth malposition	80326	WNT10A	ORPHA:99798
HP:0000692	Tooth malposition	1896	EDA	ORPHA:99798
HP:0000692	Tooth malposition	8313	AXIN2	ORPHA:99798
HP:0000692	Tooth malposition	3664	IRF6	ORPHA:99798
HP:0000692	Tooth malposition	4040	LRP6	ORPHA:99798
HP:0000692	Tooth malposition	7039	TGFA	ORPHA:99798
HP:0000692	Tooth malposition	7480	WNT10B	ORPHA:99798
HP:0000692	Tooth malposition	4204	MECP2	OMIM:300260
HP:0000692	Tooth malposition	9742	IFT140	OMIM:266920
HP:0000692	Tooth malposition	1968	EIF2S3	OMIM:300148
HP:0000692	Tooth malposition	112752	IFT43	OMIM:614099
HP:0000692	Tooth malposition	5587	PRKD1	OMIM:617364
HP:0000692	Tooth malposition	2703	GJA8	OMIM:612474
HP:0000692	Tooth malposition	2702	GJA5	OMIM:612474
HP:0000692	Tooth malposition	1801	DPH1	ORPHA:459061
HP:0000692	Tooth malposition	1802	DPH2	ORPHA:459061
HP:0000692	Tooth malposition	4088	SMAD3	ORPHA:284984
HP:0000692	Tooth malposition	4088	SMAD3	OMIM:613795
HP:0000692	Tooth malposition	2074	ERCC6	OMIM:133540
HP:0000692	Tooth malposition	2245	FGD1	OMIM:305400
HP:0000692	Tooth malposition	1145	CHRNE	OMIM:608931
HP:0000692	Tooth malposition	2673	GFPT1	OMIM:608931
HP:0000692	Tooth malposition	2972	BRF1	OMIM:616202
HP:0000692	Tooth malposition	2972	BRF1	ORPHA:444072
HP:0000692	Tooth malposition	79912	PYROXD1	OMIM:617258
HP:0000692	Tooth malposition	673	BRAF	OMIM:115150
HP:0000692	Tooth malposition	673	BRAF	OMIM:163950
HP:0000692	Tooth malposition	8818	DPM2	ORPHA:329178
HP:0000692	Tooth malposition	23363	OBSL1	OMIM:612921
HP:0000692	Tooth malposition	10060	ABCC9	OMIM:619719
HP:0000692	Tooth malposition	3190	HNRNPK	ORPHA:453504
HP:0000692	Tooth malposition	3190	HNRNPK	OMIM:616580
HP:0000692	Tooth malposition	3190	HNRNPK	ORPHA:352665
HP:0000692	Tooth malposition	5818	NECTIN1	ORPHA:199306
HP:0000692	Tooth malposition	1739	DLG1	ORPHA:199306
HP:0000692	Tooth malposition	999	CDH1	ORPHA:199306
HP:0000692	Tooth malposition	5156	PDGFRA	ORPHA:199306
HP:0000692	Tooth malposition	1748	DLX4	ORPHA:199306
HP:0000692	Tooth malposition	652	BMP4	ORPHA:199306
HP:0000692	Tooth malposition	22837	COBLL1	ORPHA:199306
HP:0000692	Tooth malposition	54848	ARHGEF38	ORPHA:199306
HP:0000692	Tooth malposition	9411	ARHGAP29	ORPHA:199306
HP:0000692	Tooth malposition	83479	DDX59	OMIM:174300
HP:0000692	Tooth malposition	1161	ERCC8	OMIM:216400
HP:0000692	Tooth malposition	1146	CHRNG	OMIM:265000
HP:0000692	Tooth malposition	4810	NHS	OMIM:302350
HP:0000692	Tooth malposition	7102	TSPAN7	OMIM:300210
HP:0000692	Tooth malposition	6452	SH3BP2	OMIM:118400
HP:0000692	Tooth malposition	4141	MARS1	OMIM:619692
HP:0000692	Tooth malposition	10265	IRX5	OMIM:611174
HP:0000692	Tooth malposition	4853	NOTCH2	OMIM:102500
HP:0000692	Tooth malposition	5290	PIK3CA	ORPHA:140944
HP:0000692	Tooth malposition	1009	CDH11	OMIM:211380
HP:0000692	Tooth malposition	444	ASPH	OMIM:601552
HP:0000692	Tooth malposition	2778	GNAS	ORPHA:562
HP:0000692	Tooth malposition	80185	TTI2	OMIM:615541
HP:0000692	Tooth malposition	1954	MEGF8	OMIM:614976
HP:0000692	Tooth malposition	79633	FAT4	OMIM:615546
HP:0000692	Tooth malposition	5573	PRKAR1A	OMIM:101800
HP:0000692	Tooth malposition	8642	DCHS1	OMIM:601390
HP:0000692	Tooth malposition	54	ACP5	ORPHA:1855
HP:0000692	Tooth malposition	57822	GRHL3	OMIM:606713
HP:0000692	Tooth malposition	64840	PORCN	OMIM:305600
HP:0000692	Tooth malposition	10312	TCIRG1	ORPHA:210110
HP:0000692	Tooth malposition	1186	CLCN7	ORPHA:210110
HP:0000692	Tooth malposition	9842	PLEKHM1	ORPHA:210110
HP:0000692	Tooth malposition	6938	TCF12	OMIM:615314
HP:0000692	Tooth malposition	6804	STX1A	ORPHA:904
HP:0000692	Tooth malposition	7461	CLIP2	ORPHA:904
HP:0000692	Tooth malposition	84277	DNAJC30	ORPHA:904
HP:0000692	Tooth malposition	8468	FKBP6	ORPHA:904
HP:0000692	Tooth malposition	5982	RFC2	ORPHA:904
HP:0000692	Tooth malposition	2969	GTF2I	ORPHA:904
HP:0000692	Tooth malposition	3984	LIMK1	ORPHA:904
HP:0000692	Tooth malposition	9569	GTF2IRD1	ORPHA:904
HP:0000692	Tooth malposition	155382	VPS37D	ORPHA:904
HP:0000692	Tooth malposition	155368	METTL27	ORPHA:904
HP:0000692	Tooth malposition	114049	BUD23	ORPHA:904
HP:0000692	Tooth malposition	7458	EIF4H	ORPHA:904
HP:0000692	Tooth malposition	84163	GTF2IRD2	ORPHA:904
HP:0000692	Tooth malposition	26608	TBL2	ORPHA:904
HP:0000692	Tooth malposition	653361	NCF1	ORPHA:904
HP:0000692	Tooth malposition	135886	TMEM270	ORPHA:904
HP:0000692	Tooth malposition	9031	BAZ1B	ORPHA:904
HP:0000692	Tooth malposition	2006	ELN	ORPHA:904
HP:0000692	Tooth malposition	2006	ELN	OMIM:194050
HP:0000692	Tooth malposition	286077	FAM83H	OMIM:130900
HP:0000692	Tooth malposition	4534	MTM1	OMIM:310400
HP:0000692	Tooth malposition	2736	GLI2	OMIM:610829
HP:0000692	Tooth malposition	84172	POLR1B	ORPHA:861
HP:0000692	Tooth malposition	9533	POLR1C	ORPHA:861
HP:0000692	Tooth malposition	51082	POLR1D	ORPHA:861
HP:0000692	Tooth malposition	6949	TCOF1	ORPHA:861
HP:0000692	Tooth malposition	79228	THOC6	ORPHA:363444
HP:0000692	Tooth malposition	79228	THOC6	OMIM:613680
HP:0000692	Tooth malposition	285590	SH3PXD2B	OMIM:249420
HP:0000692	Tooth malposition	1857	DVL3	OMIM:616894
HP:0000692	Tooth malposition	5075	PAX1	OMIM:615560
HP:0000692	Tooth malposition	51085	MLXIPL	OMIM:194050
HP:0000692	Tooth malposition	4041	LRP5	OMIM:144750
HP:0000692	Tooth malposition	6497	SKI	OMIM:182212
HP:0000692	Tooth malposition	5295	PIK3R1	OMIM:269880
HP:0000692	Tooth malposition	387	RHOA	OMIM:618727
HP:0000692	Tooth malposition	3339	HSPG2	ORPHA:800
HP:0000692	Tooth malposition	2776	GNAQ	ORPHA:3205
HP:0000692	Tooth malposition	1795	DOCK3	OMIM:618292
HP:0000692	Tooth malposition	1513	CTSK	ORPHA:763
HP:0000692	Tooth malposition	27161	AGO2	OMIM:619149
HP:0000692	Tooth malposition	672	BRCA1	OMIM:617883
HP:0000692	Tooth malposition	91252	SLC39A13	OMIM:612350
HP:0000692	Tooth malposition	2261	FGFR3	OMIM:602849
HP:0000692	Tooth malposition	4654	MYOD1	OMIM:618975
HP:0000692	Tooth malposition	2719	GPC3	OMIM:312870
HP:0000692	Tooth malposition	2239	GPC4	OMIM:312870
HP:0000692	Tooth malposition	5130	PCYT1A	OMIM:608940
HP:0000692	Tooth malposition	6654	SOS1	OMIM:610733
HP:0000692	Tooth malposition	5604	MAP2K1	OMIM:163950
HP:0000692	Tooth malposition	5781	PTPN11	OMIM:163950
HP:0000692	Tooth malposition	50964	SOST	OMIM:269500
HP:0000692	Tooth malposition	57589	RIC1	OMIM:618761
HP:0000692	Tooth malposition	23347	SMCHD1	ORPHA:2250
HP:0000692	Tooth malposition	56915	EXOSC5	OMIM:619576
HP:0000692	Tooth malposition	5745	PTH1R	OMIM:156400
HP:0000692	Tooth malposition	54880	BCOR	OMIM:309800
HP:0000692	Tooth malposition	54880	BCOR	ORPHA:2712
HP:0000692	Tooth malposition	8260	NAA10	OMIM:309800
HP:0000692	Tooth malposition	7518	XRCC4	OMIM:616541
HP:0000692	Tooth malposition	22856	CHSY1	ORPHA:363417
HP:0000692	Tooth malposition	165	AEBP1	OMIM:618000
HP:0000692	Tooth malposition	165	AEBP1	ORPHA:536532
HP:0000692	Tooth malposition	6603	SMARCD2	OMIM:617475
HP:0000692	Tooth malposition	56172	ANKH	OMIM:123000
HP:0000692	Tooth malposition	22930	RAB3GAP1	ORPHA:1387
HP:0000692	Tooth malposition	25782	RAB3GAP2	ORPHA:1387
HP:0000692	Tooth malposition	25782	RAB3GAP2	OMIM:212720
HP:0000692	Tooth malposition	8239	USP9X	ORPHA:480880
HP:0000692	Tooth malposition	5430	POLR2A	OMIM:618603
HP:0000692	Tooth malposition	9839	ZEB2	OMIM:235730
HP:0000692	Tooth malposition	9839	ZEB2	ORPHA:261537
HP:0000692	Tooth malposition	9839	ZEB2	ORPHA:261552
HP:0000692	Tooth malposition	4848	CNOT2	OMIM:618608
HP:0000692	Tooth malposition	6925	TCF4	ORPHA:2896
HP:0000692	Tooth malposition	2200	FBN1	OMIM:608328
HP:0000692	Tooth malposition	54828	BCAS3	OMIM:619641
HP:0000692	Tooth malposition	5718	PSMD12	ORPHA:529962
HP:0000692	Tooth malposition	2186	BPTF	ORPHA:529962
HP:0000692	Tooth malposition	2316	FLNA	OMIM:309350
HP:0000692	Tooth malposition	2316	FLNA	ORPHA:2484
HP:0000692	Tooth malposition	26834	RNU4-2	OMIM:620851
HP:0000692	Tooth malposition	760	CA2	ORPHA:2785
HP:0000692	Tooth malposition	81794	ADAMTS10	OMIM:277600
HP:0000692	Tooth malposition	6885	MAP3K7	ORPHA:3238
HP:0000692	Tooth malposition	8242	KDM5C	OMIM:300534
HP:0000692	Tooth malposition	546	ATRX	OMIM:301040
HP:0000692	Tooth malposition	3778	KCNMA1	OMIM:618729
HP:0000692	Tooth malposition	23137	SMC5	OMIM:620185
HP:0000692	Tooth malposition	51412	ACTL6B	OMIM:618470
HP:0000692	Tooth malposition	5566	PRKACA	OMIM:619142
HP:0000692	Tooth malposition	89910	UBE3B	OMIM:244450
HP:0000692	Tooth malposition	55690	PACS1	ORPHA:329224
HP:0000692	Tooth malposition	55690	PACS1	OMIM:615009
HP:0000692	Tooth malposition	24142	NAA80	OMIM:620830
HP:0000692	Tooth malposition	55081	IFT57	OMIM:617927
HP:0000692	Tooth malposition	257	ALX3	OMIM:136760
HP:0000692	Tooth malposition	6045	RNF2	OMIM:619460
HP:0000692	Tooth malposition	57459	GATAD2B	ORPHA:363686
HP:0000692	Tooth malposition	29123	ANKRD11	OMIM:148050
HP:0000692	Tooth malposition	29123	ANKRD11	ORPHA:2332
HP:0000692	Tooth malposition	1788	DNMT3A	ORPHA:404443
HP:0000692	Tooth malposition	158326	FREM1	OMIM:608980
HP:0000692	Tooth malposition	3265	HRAS	ORPHA:79414
HP:0000692	Tooth malposition	10274	STAG1	OMIM:617635
HP:0000692	Tooth malposition	10844	TUBGCP2	OMIM:618737
HP:0000692	Tooth malposition	3149	HMGB3	OMIM:300915
HP:0000692	Tooth malposition	2072	ERCC4	ORPHA:90321
HP:0000692	Tooth malposition	2067	ERCC1	ORPHA:90322
HP:0000692	Tooth malposition	7737	RNF113A	OMIM:300953
HP:0000692	Tooth malposition	23102	TBC1D2B	ORPHA:397973
HP:0000692	Tooth malposition	265	AMELX	OMIM:301200
HP:0000692	Tooth malposition	3694	ITGB6	OMIM:616221
HP:0000692	Tooth malposition	84957	RELT	OMIM:618386
HP:0000692	Tooth malposition	1834	DSPP	OMIM:125500
HP:0000692	Tooth malposition	8111	GPR68	OMIM:617217
HP:0000692	Tooth malposition	10117	ENAM	OMIM:204650
HP:0000692	Tooth malposition	9622	KLK4	OMIM:204700
HP:0000692	Tooth malposition	3756	KCNH1	ORPHA:3473
HP:0000692	Tooth malposition	3782	KCNN3	ORPHA:3473
HP:0000692	Tooth malposition	9313	MMP20	OMIM:612529
HP:0000692	Tooth malposition	7291	TWIST1	ORPHA:794
HP:0000692	Tooth malposition	5144	PDE4D	ORPHA:950
HP:0000692	Tooth malposition	2535	FZD2	ORPHA:3107
HP:0000692	Tooth malposition	64359	NXN	ORPHA:1507
HP:0000692	Tooth malposition	8481	OFD1	ORPHA:2750
HP:0000692	Tooth malposition	860	RUNX2	ORPHA:1452
HP:0000692	Tooth malposition	5728	PTEN	ORPHA:2969
HP:0000692	Tooth malposition	8450	CUL4B	ORPHA:85293
HP:0000692	Tooth malposition	10743	RAI1	ORPHA:1713
HP:0000692	Tooth malposition	23111	SPART	ORPHA:101000
HP:0000692	Tooth malposition	2138	EYA1	OMIM:113650
HP:0000692	Tooth malposition	6495	SIX1	OMIM:113650
HP:0000692	Tooth malposition	3097	HIVEP2	OMIM:616977
HP:0000692	Tooth malposition	3708	ITPR1	OMIM:117360
HP:0000692	Tooth malposition	91801	ALKBH8	OMIM:618504
HP:0000692	Tooth malposition	85440	DOCK7	ORPHA:411986
HP:0000692	Tooth malposition	9509	ADAMTS2	OMIM:225410
HP:0001571	Multiple impacted teeth	5745	PTH1R	OMIM:600002
HP:0001571	Multiple impacted teeth	2316	FLNA	OMIM:311300
HP:0001571	Multiple impacted teeth	6452	SH3BP2	OMIM:118400
HP:0001571	Multiple impacted teeth	1009	CDH11	OMIM:211380
HP:0001571	Multiple impacted teeth	3239	HOXD13	OMIM:113300
HP:0001572	Macrodontia	1301	COL11A1	OMIM:154780
HP:0001572	Macrodontia	2972	BRF1	ORPHA:444072
HP:0001572	Macrodontia	2972	BRF1	OMIM:616202
HP:0001572	Macrodontia	2892	GRIA3	ORPHA:364028
HP:0001572	Macrodontia	23241	PACS2	OMIM:618067
HP:0001572	Macrodontia	23476	BRD4	OMIM:620568
HP:0001572	Macrodontia	8911	CACNA1I	OMIM:620114
HP:0001572	Macrodontia	10667	FARS2	ORPHA:466722
HP:0001572	Macrodontia	3778	KCNMA1	OMIM:618729
HP:0001572	Macrodontia	526	ATP6V1B2	ORPHA:79500
HP:0001572	Macrodontia	57465	TBC1D24	ORPHA:79500
HP:0001572	Macrodontia	2697	GJA1	OMIM:257850
HP:0001572	Macrodontia	4487	MSX1	ORPHA:199302
HP:0001572	Macrodontia	5818	NECTIN1	ORPHA:199302
HP:0001572	Macrodontia	8626	TP63	ORPHA:199302
HP:0001572	Macrodontia	3664	IRF6	ORPHA:199302
HP:0001572	Macrodontia	10084	PQBP1	OMIM:309500
HP:0001572	Macrodontia	23162	MAPK8IP3	OMIM:618443
HP:0001572	Macrodontia	157680	VPS13B	ORPHA:193
HP:0001572	Macrodontia	29123	ANKRD11	OMIM:148050
HP:0001572	Macrodontia	29123	ANKRD11	ORPHA:2332
HP:0001572	Macrodontia	57647	DHX37	OMIM:618731
HP:0001572	Macrodontia	672	BRCA1	OMIM:617883
HP:0001572	Macrodontia	8558	CDK10	OMIM:617694
HP:0001572	Macrodontia	738	VPS51	OMIM:618606
HP:0001572	Macrodontia	10973	ASCC3	OMIM:620700
HP:0001572	Macrodontia	55777	MBD5	ORPHA:228402
HP:0001572	Macrodontia	4247	MGAT2	OMIM:212066
HP:0001572	Macrodontia	64093	SMOC1	ORPHA:1106
HP:0001572	Macrodontia	51305	KCNK9	ORPHA:166108
HP:0001572	Macrodontia	5813	PURA	ORPHA:438216
HP:0001572	Macrodontia	10664	CTCF	OMIM:615502
HP:0001572	Macrodontia	10060	ABCC9	OMIM:619719
HP:0001574	Abnormality of the integument	11113	CIT	OMIM:617090
HP:0001574	Abnormality of the integument	25970	SH2B1	ORPHA:261222
HP:0001574	Abnormality of the integument	6909	TBX2	OMIM:618223
HP:0001574	Abnormality of the integument	8818	DPM2	ORPHA:329178
HP:0001574	Abnormality of the integument	7545	ZIC1	OMIM:616602
HP:0001574	Abnormality of the integument	7545	ZIC1	OMIM:618736
HP:0001574	Abnormality of the integument	79029	AFG2B	OMIM:619616
HP:0001574	Abnormality of the integument	59336	PRDM13	OMIM:619909
HP:0001574	Abnormality of the integument	9895	TECPR2	OMIM:615031
HP:0001574	Abnormality of the integument	9895	TECPR2	ORPHA:320385
HP:0001574	Abnormality of the integument	6938	TCF12	OMIM:615314
HP:0001574	Abnormality of the integument	79147	FKRP	OMIM:613153
HP:0001574	Abnormality of the integument	9990	SLC12A6	OMIM:218000
HP:0001574	Abnormality of the integument	10220	GDF11	OMIM:619122
HP:0001574	Abnormality of the integument	4036	LRP2	ORPHA:2143
HP:0001574	Abnormality of the integument	6495	SIX1	OMIM:113650
HP:0001574	Abnormality of the integument	6495	SIX1	ORPHA:107
HP:0001574	Abnormality of the integument	6495	SIX1	ORPHA:52429
HP:0001574	Abnormality of the integument	6495	SIX1	OMIM:608389
HP:0001574	Abnormality of the integument	2335	FN1	ORPHA:93315
HP:0001574	Abnormality of the integument	145173	B3GLCT	ORPHA:709
HP:0001574	Abnormality of the integument	10992	SF3B2	OMIM:164210
HP:0001574	Abnormality of the integument	6299	SALL1	OMIM:107480
HP:0001574	Abnormality of the integument	6299	SALL1	ORPHA:857
HP:0001574	Abnormality of the integument	1501	CTNND2	ORPHA:281
HP:0001574	Abnormality of the integument	9037	SEMA5A	ORPHA:281
HP:0001574	Abnormality of the integument	147912	SIX5	OMIM:610896
HP:0001574	Abnormality of the integument	147912	SIX5	ORPHA:107
HP:0001574	Abnormality of the integument	1906	EDN1	ORPHA:137888
HP:0001574	Abnormality of the integument	2773	GNAI3	ORPHA:137888
HP:0001574	Abnormality of the integument	2773	GNAI3	OMIM:602483
HP:0001574	Abnormality of the integument	9343	EFTUD2	OMIM:610536
HP:0001574	Abnormality of the integument	9343	EFTUD2	ORPHA:79113
HP:0001574	Abnormality of the integument	8092	ALX1	ORPHA:306542
HP:0001574	Abnormality of the integument	10907	TXNL4A	OMIM:608572
HP:0001574	Abnormality of the integument	79759	ZNF668	OMIM:620194
HP:0001574	Abnormality of the integument	84172	POLR1B	ORPHA:861
HP:0001574	Abnormality of the integument	9533	POLR1C	ORPHA:861
HP:0001574	Abnormality of the integument	51082	POLR1D	ORPHA:861
HP:0001574	Abnormality of the integument	6949	TCOF1	ORPHA:861
HP:0001574	Abnormality of the integument	6949	TCOF1	OMIM:154500
HP:0001574	Abnormality of the integument	51339	DACT1	ORPHA:857
HP:0001574	Abnormality of the integument	27229	TUBGCP4	ORPHA:2518
HP:0001574	Abnormality of the integument	10733	PLK4	ORPHA:2518
HP:0001574	Abnormality of the integument	64131	XYLT1	ORPHA:1425
HP:0001574	Abnormality of the integument	124583	CANT1	ORPHA:1425
HP:0001574	Abnormality of the integument	55790	CSGALNACT1	ORPHA:1425
HP:0001574	Abnormality of the integument	26191	PTPN22	ORPHA:3437
HP:0001574	Abnormality of the integument	64093	SMOC1	OMIM:206920
HP:0001574	Abnormality of the integument	1717	DHCR7	ORPHA:818
HP:0001574	Abnormality of the integument	23064	SETX	OMIM:606002
HP:0001574	Abnormality of the integument	5476	CTSA	OMIM:256540
HP:0001574	Abnormality of the integument	8243	SMC1A	OMIM:300590
HP:0001574	Abnormality of the integument	8243	SMC1A	ORPHA:199
HP:0001574	Abnormality of the integument	11253	MAN1B1	ORPHA:397941
HP:0001574	Abnormality of the integument	26235	FBXL4	OMIM:615471
HP:0001574	Abnormality of the integument	9853	RUSC2	OMIM:617773
HP:0001574	Abnormality of the integument	6228	RPS23	OMIM:617412
HP:0001574	Abnormality of the integument	10973	ASCC3	OMIM:620700
HP:0001574	Abnormality of the integument	4897	NRCAM	OMIM:619833
HP:0001574	Abnormality of the integument	10586	MAB21L2	OMIM:615877
HP:0001574	Abnormality of the integument	10274	STAG1	ORPHA:502434
HP:0001574	Abnormality of the integument	10847	SRCAP	OMIM:136140
HP:0001574	Abnormality of the integument	1436	CSF1R	OMIM:618476
HP:0001574	Abnormality of the integument	9578	CDC42BPB	OMIM:619841
HP:0001574	Abnormality of the integument	29998	BICRA	OMIM:619325
HP:0001574	Abnormality of the integument	80816	ASXL3	OMIM:615485
HP:0001574	Abnormality of the integument	10978	CLP1	ORPHA:411493
HP:0001574	Abnormality of the integument	10978	CLP1	OMIM:615803
HP:0001574	Abnormality of the integument	6536	SLC6A9	OMIM:617301
HP:0001574	Abnormality of the integument	51506	UFC1	OMIM:618076
HP:0001574	Abnormality of the integument	9442	MED27	OMIM:619286
HP:0001574	Abnormality of the integument	55690	PACS1	OMIM:615009
HP:0001574	Abnormality of the integument	55690	PACS1	ORPHA:329224
HP:0001574	Abnormality of the integument	4081	MAB21L1	OMIM:618479
HP:0001574	Abnormality of the integument	4081	MAB21L1	ORPHA:495875
HP:0001574	Abnormality of the integument	2250	FGF5	OMIM:190330
HP:0001574	Abnormality of the integument	10908	PNPLA6	OMIM:275400
HP:0001574	Abnormality of the integument	10908	PNPLA6	ORPHA:3363
HP:0001574	Abnormality of the integument	3764	KCNJ8	ORPHA:1517
HP:0001574	Abnormality of the integument	10060	ABCC9	ORPHA:1517
HP:0001574	Abnormality of the integument	10060	ABCC9	OMIM:239850
HP:0001574	Abnormality of the integument	9126	SMC3	OMIM:610759
HP:0001574	Abnormality of the integument	9126	SMC3	ORPHA:199
HP:0001574	Abnormality of the integument	55777	MBD5	OMIM:156200
HP:0001574	Abnormality of the integument	23221	RHOBTB2	OMIM:618004
HP:0001574	Abnormality of the integument	57492	ARID1B	OMIM:135900
HP:0001574	Abnormality of the integument	4998	ORC1	OMIM:224690
HP:0001574	Abnormality of the integument	8120	AP3B2	OMIM:617276
HP:0001574	Abnormality of the integument	5119	CHMP1A	OMIM:614961
HP:0001574	Abnormality of the integument	55603	TENT5A	OMIM:617952
HP:0001574	Abnormality of the integument	64359	NXN	OMIM:618529
HP:0001574	Abnormality of the integument	64359	NXN	ORPHA:1507
HP:0001574	Abnormality of the integument	8289	ARID1A	OMIM:614607
HP:0001574	Abnormality of the integument	7841	MOGS	OMIM:606056
HP:0001574	Abnormality of the integument	7841	MOGS	ORPHA:79330
HP:0001574	Abnormality of the integument	6597	SMARCA4	OMIM:614609
HP:0001574	Abnormality of the integument	9377	COX5A	OMIM:619064
HP:0001574	Abnormality of the integument	6045	RNF2	OMIM:619460
HP:0001574	Abnormality of the integument	23258	DENND5A	OMIM:617281
HP:0001574	Abnormality of the integument	22872	SEC31A	OMIM:618651
HP:0001574	Abnormality of the integument	283987	HID1	OMIM:619983
HP:0001574	Abnormality of the integument	649	BMP1	OMIM:614856
HP:0001574	Abnormality of the integument	4247	MGAT2	OMIM:212066
HP:0001574	Abnormality of the integument	4247	MGAT2	ORPHA:79329
HP:0001574	Abnormality of the integument	6878	TAF6	ORPHA:199
HP:0001574	Abnormality of the integument	6878	TAF6	OMIM:617126
HP:0001574	Abnormality of the integument	25836	NIPBL	ORPHA:199
HP:0001574	Abnormality of the integument	25836	NIPBL	OMIM:122470
HP:0001574	Abnormality of the integument	5885	RAD21	ORPHA:199
HP:0001574	Abnormality of the integument	50801	KCNK4	OMIM:618381
HP:0001574	Abnormality of the integument	10664	CTCF	ORPHA:363611
HP:0001574	Abnormality of the integument	10664	CTCF	OMIM:615502
HP:0001574	Abnormality of the integument	149371	EXOC8	OMIM:619076
HP:0001574	Abnormality of the integument	51633	OTUD6B	OMIM:617452
HP:0001574	Abnormality of the integument	51633	OTUD6B	ORPHA:505237
HP:0001574	Abnormality of the integument	1857	DVL3	ORPHA:3107
HP:0001574	Abnormality of the integument	1857	DVL3	OMIM:616894
HP:0001574	Abnormality of the integument	2535	FZD2	ORPHA:3107
HP:0001574	Abnormality of the integument	57282	SLC4A10	OMIM:620746
HP:0001574	Abnormality of the integument	92609	TIMM50	OMIM:617698
HP:0001574	Abnormality of the integument	85440	DOCK7	ORPHA:411986
HP:0001574	Abnormality of the integument	85440	DOCK7	OMIM:615859
HP:0001574	Abnormality of the integument	8405	SPOP	OMIM:618828
HP:0001574	Abnormality of the integument	51305	KCNK9	OMIM:612292
HP:0001574	Abnormality of the integument	1806	DPYD	ORPHA:1675
HP:0001574	Abnormality of the integument	23261	CAMTA1	OMIM:614756
HP:0001574	Abnormality of the integument	55691	FRMD4A	OMIM:616819
HP:0001574	Abnormality of the integument	55691	FRMD4A	ORPHA:466688
HP:0001574	Abnormality of the integument	5495	PPM1B	ORPHA:163693
HP:0001574	Abnormality of the integument	6519	SLC3A1	ORPHA:163693
HP:0001574	Abnormality of the integument	9581	PREPL	ORPHA:163693
HP:0001574	Abnormality of the integument	79823	CAMKMT	ORPHA:163693
HP:0001574	Abnormality of the integument	10463	SLC30A9	OMIM:617595
HP:0001574	Abnormality of the integument	26047	CNTNAP2	OMIM:610042
HP:0001574	Abnormality of the integument	57479	PRR12	OMIM:619539
HP:0001574	Abnormality of the integument	738	VPS51	OMIM:618606
HP:0001574	Abnormality of the integument	4848	CNOT2	OMIM:618608
HP:0001574	Abnormality of the integument	29071	C1GALT1C1	OMIM:301110
HP:0001574	Abnormality of the integument	84842	HPDL	OMIM:619026
HP:0001574	Abnormality of the integument	5881	RAC3	OMIM:618577
HP:0001574	Abnormality of the integument	1642	DDB1	OMIM:619426
HP:0001574	Abnormality of the integument	7407	VARS1	OMIM:617802
HP:0001574	Abnormality of the integument	6664	SOX11	OMIM:615866
HP:0001574	Abnormality of the integument	283450	HECTD4	OMIM:620250
HP:0001574	Abnormality of the integument	90952	ESAM	OMIM:620371
HP:0001574	Abnormality of the integument	6663	SOX10	ORPHA:163746
HP:0001574	Abnormality of the integument	6663	SOX10	ORPHA:897
HP:0001574	Abnormality of the integument	5189	PEX1	ORPHA:3220
HP:0001574	Abnormality of the integument	5190	PEX6	ORPHA:3220
HP:0001574	Abnormality of the integument	157570	ESCO2	ORPHA:2319
HP:0001574	Abnormality of the integument	91179	SCARF2	OMIM:600920
HP:0001574	Abnormality of the integument	64132	XYLT2	ORPHA:85194
HP:0001574	Abnormality of the integument	1908	EDN3	ORPHA:897
HP:0001574	Abnormality of the integument	1910	EDNRB	ORPHA:897
HP:0001574	Abnormality of the integument	9131	AIFM1	OMIM:300232
HP:0001574	Abnormality of the integument	26128	KIFBP	OMIM:609460
HP:0001574	Abnormality of the integument	9820	CUL7	ORPHA:2616
HP:0001574	Abnormality of the integument	9820	CUL7	OMIM:273750
HP:0001574	Abnormality of the integument	23363	OBSL1	ORPHA:2616
HP:0001574	Abnormality of the integument	83987	CCDC8	ORPHA:2616
HP:0001574	Abnormality of the integument	7021	TFAP2B	OMIM:169100
HP:0001574	Abnormality of the integument	10479	SLC9A6	OMIM:300243
HP:0001574	Abnormality of the integument	10479	SLC9A6	ORPHA:85278
HP:0001574	Abnormality of the integument	23384	SPECC1L	ORPHA:1519
HP:0001574	Abnormality of the integument	57082	KNL1	OMIM:604321
HP:0001574	Abnormality of the integument	6197	RPS6KA3	OMIM:303600
HP:0001574	Abnormality of the integument	10015	PDCD6IP	OMIM:620047
HP:0001574	Abnormality of the integument	4330	MN1	OMIM:618774
HP:0001574	Abnormality of the integument	55148	UBR7	OMIM:619189
HP:0001574	Abnormality of the integument	23461	ABCA5	ORPHA:2026
HP:0001574	Abnormality of the integument	253738	EBF3	OMIM:617330
HP:0001574	Abnormality of the integument	1182	CLCN3	OMIM:619512
HP:0001574	Abnormality of the integument	388662	SLC6A17	ORPHA:457212
HP:0001574	Abnormality of the integument	55280	CWF19L1	OMIM:616127
HP:0001574	Abnormality of the integument	5593	PRKG2	OMIM:619636
HP:0001574	Abnormality of the integument	285362	SUMF1	ORPHA:585
HP:0001574	Abnormality of the integument	5700	PSMC1	OMIM:620071
HP:0001574	Abnormality of the integument	54828	BCAS3	OMIM:619641
HP:0001574	Abnormality of the integument	81887	LAS1L	ORPHA:3459
HP:0001574	Abnormality of the integument	81887	LAS1L	OMIM:309585
HP:0001574	Abnormality of the integument	668	FOXL2	ORPHA:572333
HP:0001574	Abnormality of the integument	4208	MEF2C	ORPHA:228384
HP:0001574	Abnormality of the integument	8242	KDM5C	OMIM:300534
HP:0001574	Abnormality of the integument	23162	MAPK8IP3	OMIM:618443
HP:0001574	Abnormality of the integument	54941	RNF125	OMIM:616260
HP:0001574	Abnormality of the integument	51322	WAC	OMIM:616708
HP:0001574	Abnormality of the integument	51322	WAC	ORPHA:466950
HP:0001574	Abnormality of the integument	79791	FBXO31	OMIM:615979
HP:0001574	Abnormality of the integument	84295	PHF6	ORPHA:127
HP:0001574	Abnormality of the integument	8621	CDK13	OMIM:617360
HP:0001574	Abnormality of the integument	11338	U2AF2	OMIM:620535
HP:0001574	Abnormality of the integument	3720	JARID2	OMIM:620098
HP:0001574	Abnormality of the integument	11160	ERLIN2	ORPHA:280384
HP:0001574	Abnormality of the integument	11160	ERLIN2	ORPHA:209951
HP:0001574	Abnormality of the integument	57520	HECW2	OMIM:617268
HP:0001574	Abnormality of the integument	83479	DDX59	OMIM:174300
HP:0001574	Abnormality of the integument	54808	DYM	OMIM:223800
HP:0001574	Abnormality of the integument	10588	MTHFS	OMIM:618367
HP:0001574	Abnormality of the integument	5718	PSMD12	ORPHA:529962
HP:0001574	Abnormality of the integument	50937	CDON	OMIM:614226
HP:0001574	Abnormality of the integument	2131	EXT1	ORPHA:502
HP:0001574	Abnormality of the integument	7204	TRIO	OMIM:617061
HP:0001574	Abnormality of the integument	54880	BCOR	OMIM:300166
HP:0001574	Abnormality of the integument	55617	TASP1	OMIM:618950
HP:0001574	Abnormality of the integument	23067	SETD1B	OMIM:619000
HP:0001574	Abnormality of the integument	114928	GPRASP2	OMIM:301018
HP:0001574	Abnormality of the integument	2799	GNS	OMIM:252940
HP:0001574	Abnormality of the integument	2273	FHL1	OMIM:300280
HP:0001574	Abnormality of the integument	55023	PHIP	OMIM:617991
HP:0001574	Abnormality of the integument	2990	GUSB	OMIM:253220
HP:0001574	Abnormality of the integument	51594	NBAS	OMIM:614800
HP:0001574	Abnormality of the integument	9469	CHST3	OMIM:245600
HP:0001574	Abnormality of the integument	26229	B3GAT3	OMIM:245600
HP:0001574	Abnormality of the integument	129285	PPP1R21	OMIM:619383
HP:0001574	Abnormality of the integument	55553	SOX6	OMIM:618971
HP:0001574	Abnormality of the integument	55331	ACER3	OMIM:617762
HP:0001574	Abnormality of the integument	10844	TUBGCP2	OMIM:618737
HP:0001574	Abnormality of the integument	58508	KMT2C	OMIM:617768
HP:0001574	Abnormality of the integument	3480	IGF1R	OMIM:270450
HP:0001574	Abnormality of the integument	5286	PIK3C2A	ORPHA:557003
HP:0001574	Abnormality of the integument	51611	DPH5	OMIM:620070
HP:0001574	Abnormality of the integument	23241	PACS2	OMIM:618067
HP:0001574	Abnormality of the integument	7360	UGP2	OMIM:618744
HP:0001574	Abnormality of the integument	7109	TRAPPC10	OMIM:620027
HP:0001574	Abnormality of the integument	10300	KATNB1	OMIM:616212
HP:0001574	Abnormality of the integument	7552	ZNF711	OMIM:300803
HP:0001574	Abnormality of the integument	318	NUDT2	OMIM:619844
HP:0001574	Abnormality of the integument	2314	FLII	ORPHA:819
HP:0001574	Abnormality of the integument	23096	IQSEC2	ORPHA:819
HP:0001574	Abnormality of the integument	10743	RAI1	ORPHA:819
HP:0001574	Abnormality of the integument	10743	RAI1	OMIM:182290
HP:0001574	Abnormality of the integument	10522	DEAF1	ORPHA:819
HP:0001574	Abnormality of the integument	26153	KIF26A	OMIM:620156
HP:0001574	Abnormality of the integument	83696	TRAPPC9	OMIM:613192
HP:0001574	Abnormality of the integument	83696	TRAPPC9	ORPHA:352530
HP:0001574	Abnormality of the integument	55870	ASH1L	OMIM:617796
HP:0001574	Abnormality of the integument	3899	AFF3	OMIM:619297
HP:0001574	Abnormality of the integument	83871	RAB34	OMIM:620718
HP:0001574	Abnormality of the integument	23347	SMCHD1	OMIM:603457
HP:0001574	Abnormality of the integument	10087	CERT1	OMIM:616351
HP:0001574	Abnormality of the integument	84504	NKX6-2	OMIM:617560
HP:0001574	Abnormality of the integument	23036	ZNF292	OMIM:619188
HP:0001574	Abnormality of the integument	3340	NDST1	OMIM:616116
HP:0001574	Abnormality of the integument	79813	EHMT1	OMIM:610253
HP:0001574	Abnormality of the integument	79813	EHMT1	ORPHA:96147
HP:0001574	Abnormality of the integument	84300	UQCC2	OMIM:615824
HP:0001574	Abnormality of the integument	3192	HNRNPU	ORPHA:238769
HP:0001574	Abnormality of the integument	26038	CHD5	OMIM:619873
HP:0001574	Abnormality of the integument	55621	TRMT1	OMIM:618302
HP:0001574	Abnormality of the integument	8558	CDK10	OMIM:617694
HP:0001574	Abnormality of the integument	26137	ZBTB20	OMIM:259050
HP:0001574	Abnormality of the integument	26137	ZBTB20	ORPHA:3042
HP:0001574	Abnormality of the integument	56098	PCDHGC4	OMIM:619880
HP:0001574	Abnormality of the integument	7358	UGDH	OMIM:618792
HP:0001574	Abnormality of the integument	9772	TMEM94	OMIM:618316
HP:0001574	Abnormality of the integument	10430	TMEM147	OMIM:620075
HP:0001574	Abnormality of the integument	6611	SMS	OMIM:309583
HP:0001574	Abnormality of the integument	6611	SMS	ORPHA:3063
HP:0001574	Abnormality of the integument	23219	FBXO28	OMIM:619777
HP:0001574	Abnormality of the integument	22856	CHSY1	OMIM:605282
HP:0001574	Abnormality of the integument	6509	SLC1A4	ORPHA:447997
HP:0001574	Abnormality of the integument	7546	ZIC2	OMIM:609637
HP:0001574	Abnormality of the integument	2703	GJA8	OMIM:612474
HP:0001574	Abnormality of the integument	2702	GJA5	OMIM:612474
HP:0001574	Abnormality of the integument	22907	DHX30	OMIM:617804
HP:0001574	Abnormality of the integument	81603	TRIM8	OMIM:619428
HP:0001574	Abnormality of the integument	835	CASP2	OMIM:620653
HP:0001574	Abnormality of the integument	140679	SLC32A1	OMIM:620774
HP:0001574	Abnormality of the integument	6888	TALDO1	OMIM:606003
HP:0001574	Abnormality of the integument	6448	SGSH	OMIM:252900
HP:0001574	Abnormality of the integument	8473	OGT	OMIM:300997
HP:0001574	Abnormality of the integument	51621	KLF13	OMIM:612001
HP:0001574	Abnormality of the integument	5648	MASP1	OMIM:257920
HP:0001574	Abnormality of the integument	55628	ZNF407	OMIM:619557
HP:0001574	Abnormality of the integument	55209	SETD5	OMIM:615761
HP:0001574	Abnormality of the integument	23030	KDM4B	OMIM:619320
HP:0001574	Abnormality of the integument	3313	HSPA9	OMIM:616854
HP:0001574	Abnormality of the integument	7453	WARS1	OMIM:620317
HP:0001574	Abnormality of the integument	3097	HIVEP2	OMIM:616977
HP:0001574	Abnormality of the integument	4131	MAP1B	OMIM:618918
HP:0001574	Abnormality of the integument	9969	MED13	OMIM:618009
HP:0001574	Abnormality of the integument	1000	CDH2	OMIM:618929
HP:0001574	Abnormality of the integument	80185	TTI2	OMIM:615541
HP:0001574	Abnormality of the integument	80185	TTI2	ORPHA:391307
HP:0001574	Abnormality of the integument	26040	SETBP1	OMIM:616078
HP:0001574	Abnormality of the integument	5332	PLCB4	OMIM:620458
HP:0001574	Abnormality of the integument	1974	EIF4A2	OMIM:620455
HP:0001574	Abnormality of the integument	10771	ZMYND11	OMIM:616083
HP:0001574	Abnormality of the integument	1457	CSNK2A1	OMIM:617062
HP:0001574	Abnormality of the integument	23556	PIGN	ORPHA:280633
HP:0001574	Abnormality of the integument	118924	FRA10AC1	OMIM:620113
HP:0001574	Abnormality of the integument	93587	TRMT10A	ORPHA:391408
HP:0001574	Abnormality of the integument	84919	PPP1R15B	ORPHA:391408
HP:0001574	Abnormality of the integument	6329	SCN4A	OMIM:620351
HP:0001574	Abnormality of the integument	6329	SCN4A	OMIM:620369
HP:0001574	Abnormality of the integument	403	ARL3	OMIM:618161
HP:0001574	Abnormality of the integument	6904	TBCD	OMIM:617193
HP:0001574	Abnormality of the integument	10020	GNE	OMIM:269921
HP:0001574	Abnormality of the integument	23133	PHF8	ORPHA:85287
HP:0001574	Abnormality of the integument	23133	PHF8	OMIM:300263
HP:0001574	Abnormality of the integument	54187	NANS	OMIM:610442
HP:0001574	Abnormality of the integument	138050	HGSNAT	OMIM:252930
HP:0001574	Abnormality of the integument	3778	KCNMA1	OMIM:618729
HP:0001574	Abnormality of the integument	64802	NMNAT1	OMIM:619260
HP:0001574	Abnormality of the integument	11141	IL1RAPL1	OMIM:300143
HP:0001574	Abnormality of the integument	284361	EMC10	OMIM:619264
HP:0001574	Abnormality of the integument	4669	NAGLU	OMIM:252920
HP:0001574	Abnormality of the integument	9898	UBAP2L	OMIM:620494
HP:0001574	Abnormality of the integument	147495	APCDD1	OMIM:605389
HP:0001574	Abnormality of the integument	7421	VDR	ORPHA:93160
HP:0001574	Abnormality of the integument	7421	VDR	OMIM:277440
HP:0001574	Abnormality of the integument	200879	LIPH	OMIM:604379
HP:0001574	Abnormality of the integument	5167	ENPP1	ORPHA:51608
HP:0001574	Abnormality of the integument	5167	ENPP1	ORPHA:758
HP:0001574	Abnormality of the integument	368	ABCC6	ORPHA:51608
HP:0001574	Abnormality of the integument	368	ABCC6	ORPHA:758
HP:0001574	Abnormality of the integument	7355	SLC35A2	ORPHA:356961
HP:0001574	Abnormality of the integument	6898	TAT	OMIM:276600
HP:0001574	Abnormality of the integument	6775	STAT4	ORPHA:93552
HP:0001574	Abnormality of the integument	6696	SPP1	ORPHA:93552
HP:0001574	Abnormality of the integument	6303	SAT1	ORPHA:93552
HP:0001574	Abnormality of the integument	3654	IRAK1	ORPHA:93552
HP:0001574	Abnormality of the integument	1235	CCR6	ORPHA:220402
HP:0001574	Abnormality of the integument	1235	CCR6	ORPHA:220393
HP:0001574	Abnormality of the integument	79932	KIAA0319L	ORPHA:220402
HP:0001574	Abnormality of the integument	1490	CCN2	ORPHA:220402
HP:0001574	Abnormality of the integument	1490	CCN2	ORPHA:220393
HP:0001574	Abnormality of the integument	3663	IRF5	ORPHA:220402
HP:0001574	Abnormality of the integument	3663	IRF5	ORPHA:220393
HP:0001574	Abnormality of the integument	857	CAV1	ORPHA:220402
HP:0001574	Abnormality of the integument	857	CAV1	ORPHA:220393
HP:0001574	Abnormality of the integument	3123	HLA-DRB1	ORPHA:220402
HP:0001574	Abnormality of the integument	3123	HLA-DRB1	ORPHA:220393
HP:0001574	Abnormality of the integument	5339	PLEC	ORPHA:254361
HP:0001574	Abnormality of the integument	11146	GLMN	OMIM:138000
HP:0001574	Abnormality of the integument	53630	BCO1	OMIM:115300
HP:0001574	Abnormality of the integument	6144	RPL21	OMIM:615885
HP:0001574	Abnormality of the integument	9640	ZNF592	ORPHA:83472
HP:0001574	Abnormality of the integument	84942	WDR73	ORPHA:83472
HP:0001574	Abnormality of the integument	3248	HPGD	ORPHA:217059
HP:0001574	Abnormality of the integument	5340	PLG	OMIM:217090
HP:0001574	Abnormality of the integument	5340	PLG	ORPHA:722
HP:0001574	Abnormality of the integument	2132	EXT2	ORPHA:466926
HP:0001574	Abnormality of the integument	3914	LAMB3	OMIM:104530
HP:0001574	Abnormality of the integument	23592	LEMD3	ORPHA:1879
HP:0001574	Abnormality of the integument	348	APOE	ORPHA:412
HP:0001574	Abnormality of the integument	2767	GNA11	ORPHA:1556
HP:0001574	Abnormality of the integument	151188	ARL6IP6	ORPHA:1556
HP:0001574	Abnormality of the integument	23314	SATB2	ORPHA:576283
HP:0001574	Abnormality of the integument	4072	EPCAM	ORPHA:92050
HP:0001574	Abnormality of the integument	105371045	PERCC1	ORPHA:92050
HP:0001574	Abnormality of the integument	889	KRIT1	OMIM:116860
HP:0001574	Abnormality of the integument	4621	MYH3	OMIM:193700
HP:0001574	Abnormality of the integument	10560	SLC19A2	OMIM:249270
HP:0001574	Abnormality of the integument	284252	KCTD1	ORPHA:2036
HP:0001574	Abnormality of the integument	121391	KRT74	OMIM:614929
HP:0001574	Abnormality of the integument	60681	FKBP10	OMIM:610968
HP:0001574	Abnormality of the integument	3265	HRAS	ORPHA:3071
HP:0001574	Abnormality of the integument	1281	COL3A1	ORPHA:286
HP:0001574	Abnormality of the integument	1281	COL3A1	ORPHA:2500
HP:0001574	Abnormality of the integument	9896	FIG4	ORPHA:208441
HP:0001574	Abnormality of the integument	1508	CTSB	OMIM:148370
HP:0001574	Abnormality of the integument	10682	EBP	ORPHA:35173
HP:0001574	Abnormality of the integument	84818	IL17RC	ORPHA:1334
HP:0001574	Abnormality of the integument	64581	CLEC7A	ORPHA:1334
HP:0001574	Abnormality of the integument	23765	IL17RA	ORPHA:1334
HP:0001574	Abnormality of the integument	10758	TRAF3IP2	ORPHA:1334
HP:0001574	Abnormality of the integument	112744	IL17F	ORPHA:1334
HP:0001574	Abnormality of the integument	4053	LTBP2	OMIM:251750
HP:0001574	Abnormality of the integument	55532	SLC30A10	ORPHA:309854
HP:0001574	Abnormality of the integument	3783	KCNN4	OMIM:616689
HP:0001574	Abnormality of the integument	9420	CYP7B1	ORPHA:79302
HP:0001574	Abnormality of the integument	9420	CYP7B1	OMIM:613812
HP:0001574	Abnormality of the integument	6718	AKR1D1	ORPHA:79303
HP:0001574	Abnormality of the integument	6718	AKR1D1	OMIM:235555
HP:0001574	Abnormality of the integument	54658	UGT1A1	OMIM:143500
HP:0001574	Abnormality of the integument	54658	UGT1A1	OMIM:237900
HP:0001574	Abnormality of the integument	54658	UGT1A1	OMIM:606785
HP:0001574	Abnormality of the integument	54658	UGT1A1	OMIM:218800
HP:0001574	Abnormality of the integument	6005	RHAG	OMIM:185000
HP:0001574	Abnormality of the integument	6005	RHAG	ORPHA:71275
HP:0001574	Abnormality of the integument	6005	RHAG	OMIM:268150
HP:0001574	Abnormality of the integument	55687	TRMU	OMIM:613070
HP:0001574	Abnormality of the integument	60561	RINT1	OMIM:618641
HP:0001574	Abnormality of the integument	11232	POLG2	OMIM:618528
HP:0001574	Abnormality of the integument	1716	DGUOK	OMIM:251880
HP:0001574	Abnormality of the integument	1244	ABCC2	ORPHA:234
HP:0001574	Abnormality of the integument	1244	ABCC2	OMIM:237500
HP:0001574	Abnormality of the integument	5311	PKD2	OMIM:613095
HP:0001574	Abnormality of the integument	10068	IL18BP	OMIM:618549
HP:0001574	Abnormality of the integument	2592	GALT	OMIM:230400
HP:0001574	Abnormality of the integument	2592	GALT	ORPHA:79239
HP:0001574	Abnormality of the integument	5265	SERPINA1	ORPHA:60
HP:0001574	Abnormality of the integument	5428	POLG	OMIM:203700
HP:0001574	Abnormality of the integument	9095	TBX19	OMIM:201400
HP:0001574	Abnormality of the integument	11231	SEC63	ORPHA:2924
HP:0001574	Abnormality of the integument	5589	PRKCSH	ORPHA:2924
HP:0001574	Abnormality of the integument	4041	LRP5	ORPHA:2924
HP:0001574	Abnormality of the integument	10165	SLC25A13	ORPHA:247598
HP:0001574	Abnormality of the integument	2729	GCLC	ORPHA:33574
HP:0001574	Abnormality of the integument	2153	F5	ORPHA:131
HP:0001574	Abnormality of the integument	11330	CTRC	ORPHA:103918
HP:0001574	Abnormality of the integument	11330	CTRC	ORPHA:676
HP:0001574	Abnormality of the integument	6690	SPINK1	ORPHA:103918
HP:0001574	Abnormality of the integument	6690	SPINK1	ORPHA:676
HP:0001574	Abnormality of the integument	79989	IFT56	OMIM:619534
HP:0001574	Abnormality of the integument	5213	PFKM	OMIM:232800
HP:0001574	Abnormality of the integument	29929	ALG6	ORPHA:79320
HP:0001574	Abnormality of the integument	5825	ABCD3	OMIM:616278
HP:0001574	Abnormality of the integument	27429	HTRA2	OMIM:617248
HP:0001574	Abnormality of the integument	6006	RHCE	ORPHA:71275
HP:0001574	Abnormality of the integument	6007	RHD	ORPHA:71275
HP:0001574	Abnormality of the integument	7167	TPI1	OMIM:615512
HP:0001574	Abnormality of the integument	763	CA5A	OMIM:615751
HP:0001574	Abnormality of the integument	3875	KRT18	OMIM:215600
HP:0001574	Abnormality of the integument	4023	LPL	OMIM:238600
HP:0001574	Abnormality of the integument	11093	ADAMTS13	OMIM:274150
HP:0001574	Abnormality of the integument	5172	SLC26A4	ORPHA:95720
HP:0001574	Abnormality of the integument	51218	GLRX5	OMIM:616860
HP:0001574	Abnormality of the integument	2821	GPI	OMIM:613470
HP:0001574	Abnormality of the integument	50619	DEF6	OMIM:619573
HP:0001574	Abnormality of the integument	7019	TFAM	OMIM:617156
HP:0001574	Abnormality of the integument	3431	SP110	ORPHA:79124
HP:0001574	Abnormality of the integument	7289	TULP3	OMIM:619902
HP:0001574	Abnormality of the integument	285282	RABL3	ORPHA:1333
HP:0001574	Abnormality of the integument	23022	PALLD	ORPHA:1333
HP:0001574	Abnormality of the integument	4548	MTR	OMIM:250940
HP:0001574	Abnormality of the integument	5644	PRSS1	ORPHA:676
HP:0001574	Abnormality of the integument	5645	PRSS2	ORPHA:676
HP:0001574	Abnormality of the integument	55503	TRPV6	ORPHA:676
HP:0001574	Abnormality of the integument	1357	CPA1	ORPHA:676
HP:0001574	Abnormality of the integument	9997	SCO2	OMIM:604377
HP:0001574	Abnormality of the integument	570	BAAT	OMIM:619232
HP:0001574	Abnormality of the integument	6928	HNF1B	ORPHA:93111
HP:0001574	Abnormality of the integument	286410	ATP11C	OMIM:301015
HP:0001574	Abnormality of the integument	51124	IER3IP1	OMIM:614231
HP:0001574	Abnormality of the integument	3098	HK1	OMIM:235700
HP:0001574	Abnormality of the integument	226	ALDOA	OMIM:611881
HP:0001574	Abnormality of the integument	100506658	OCLN	OMIM:251290
HP:0001574	Abnormality of the integument	199221	DZIP1L	ORPHA:731
HP:0001574	Abnormality of the integument	10577	NPC2	OMIM:607625
HP:0001574	Abnormality of the integument	9451	EIF2AK3	ORPHA:1667
HP:0001574	Abnormality of the integument	4067	LYN	OMIM:620376
HP:0001574	Abnormality of the integument	2110	ETFDH	OMIM:231680
HP:0001574	Abnormality of the integument	2108	ETFA	OMIM:231680
HP:0001574	Abnormality of the integument	2109	ETFB	OMIM:231680
HP:0001574	Abnormality of the integument	2582	GALE	OMIM:230350
HP:0001574	Abnormality of the integument	128	ADH5	OMIM:619151
HP:0001574	Abnormality of the integument	148738	HJV	OMIM:602390
HP:0001574	Abnormality of the integument	4173	MCM4	OMIM:609981
HP:0001574	Abnormality of the integument	10297	APC2	ORPHA:821
HP:0001574	Abnormality of the integument	1584	CYP11B1	OMIM:202010
HP:0001574	Abnormality of the integument	1584	CYP11B1	ORPHA:90795
HP:0001574	Abnormality of the integument	1583	CYP11A1	OMIM:613743
HP:0001574	Abnormality of the integument	10587	TXNRD2	OMIM:617825
HP:0001574	Abnormality of the integument	56246	MRAP	OMIM:607398
HP:0001574	Abnormality of the integument	3284	HSD3B2	ORPHA:90791
HP:0001574	Abnormality of the integument	30061	SLC40A1	OMIM:606069
HP:0001574	Abnormality of the integument	84196	USP48	ORPHA:96253
HP:0001574	Abnormality of the integument	9101	USP8	ORPHA:96253
HP:0001574	Abnormality of the integument	2908	NR3C1	ORPHA:96253
HP:0001574	Abnormality of the integument	546	ATRX	ORPHA:96253
HP:0001574	Abnormality of the integument	165	AEBP1	OMIM:618000
HP:0001574	Abnormality of the integument	8091	HMGA2	ORPHA:94063
HP:0001574	Abnormality of the integument	190	NR0B1	ORPHA:95702
HP:0001574	Abnormality of the integument	190	NR0B1	OMIM:300200
HP:0001574	Abnormality of the integument	6638	SNRPN	ORPHA:177907
HP:0001574	Abnormality of the integument	650	BMP2	OMIM:235200
HP:0001574	Abnormality of the integument	3077	HFE	OMIM:235200
HP:0001574	Abnormality of the integument	3077	HFE	ORPHA:465508
HP:0001574	Abnormality of the integument	55131	RBM28	ORPHA:157954
HP:0001574	Abnormality of the integument	4158	MC2R	OMIM:202200
HP:0001574	Abnormality of the integument	8879	SGPL1	OMIM:617575
HP:0001574	Abnormality of the integument	5293	PIK3CD	ORPHA:221139
HP:0001574	Abnormality of the integument	90417	KNSTRN	ORPHA:221139
HP:0001574	Abnormality of the integument	80025	PANK2	OMIM:234200
HP:0001574	Abnormality of the integument	7036	TFR2	OMIM:604250
HP:0001574	Abnormality of the integument	2629	GBA1	OMIM:230800
HP:0001574	Abnormality of the integument	3718	JAK3	ORPHA:35078
HP:0001574	Abnormality of the integument	654	BMP6	ORPHA:465508
HP:0001574	Abnormality of the integument	57817	HAMP	OMIM:613313
HP:0001574	Abnormality of the integument	8086	AAAS	OMIM:231550
HP:0001574	Abnormality of the integument	55367	PIDD1	OMIM:619827
HP:0001574	Abnormality of the integument	51126	NAA20	OMIM:619717
HP:0001574	Abnormality of the integument	123263	MTFMT	OMIM:614947
HP:0001574	Abnormality of the integument	22858	CILK1	OMIM:612651
HP:0001574	Abnormality of the integument	9382	COG1	OMIM:611209
HP:0001574	Abnormality of the integument	84987	COX14	OMIM:619053
HP:0001574	Abnormality of the integument	5442	POLRMT	OMIM:619743
HP:0001574	Abnormality of the integument	132158	GLYCTK	OMIM:220120
HP:0001574	Abnormality of the integument	63895	PIEZO2	OMIM:114300
HP:0001574	Abnormality of the integument	9230	RAB11B	OMIM:617807
HP:0001574	Abnormality of the integument	55081	IFT57	OMIM:617927
HP:0001574	Abnormality of the integument	5515	PPP2CA	OMIM:618354
HP:0001574	Abnormality of the integument	5530	PPP3CA	OMIM:617711
HP:0001574	Abnormality of the integument	80746	TSEN2	OMIM:612389
HP:0001574	Abnormality of the integument	9361	LONP1	ORPHA:79243
HP:0001574	Abnormality of the integument	5160	PDHA1	ORPHA:79243
HP:0001574	Abnormality of the integument	57187	THOC2	ORPHA:457240
HP:0001574	Abnormality of the integument	92002	CCNQ	OMIM:300707
HP:0001574	Abnormality of the integument	83737	ITCH	OMIM:613385
HP:0001574	Abnormality of the integument	7169	TPM2	OMIM:108120
HP:0001574	Abnormality of the integument	2733	GLE1	OMIM:611890
HP:0001574	Abnormality of the integument	8462	KLF11	ORPHA:552
HP:0001574	Abnormality of the integument	2645	GCK	ORPHA:552
HP:0001574	Abnormality of the integument	26060	APPL1	ORPHA:552
HP:0001574	Abnormality of the integument	1056	CEL	ORPHA:552
HP:0001574	Abnormality of the integument	4760	NEUROD1	ORPHA:552
HP:0001574	Abnormality of the integument	3651	PDX1	ORPHA:552
HP:0001574	Abnormality of the integument	5078	PAX4	ORPHA:552
HP:0001574	Abnormality of the integument	3630	INS	ORPHA:552
HP:0001574	Abnormality of the integument	4160	MC4R	ORPHA:71529
HP:0001574	Abnormality of the integument	3290	HSD11B1	OMIM:614662
HP:0001574	Abnormality of the integument	91461	PKDCC	OMIM:618821
HP:0001574	Abnormality of the integument	63924	CIDEC	OMIM:615238
HP:0001574	Abnormality of the integument	63924	CIDEC	ORPHA:435651
HP:0001574	Abnormality of the integument	5346	PLIN1	ORPHA:280356
HP:0001574	Abnormality of the integument	5346	PLIN1	OMIM:613877
HP:0001574	Abnormality of the integument	23187	PHLDB1	OMIM:620639
HP:0001574	Abnormality of the integument	150	ADRA2A	OMIM:620679
HP:0001574	Abnormality of the integument	208	AKT2	ORPHA:79085
HP:0001574	Abnormality of the integument	1588	CYP19A1	ORPHA:91
HP:0001574	Abnormality of the integument	3479	IGF1	ORPHA:73272
HP:0001574	Abnormality of the integument	6548	SLC9A1	OMIM:616291
HP:0001574	Abnormality of the integument	8936	WASF1	OMIM:618707
HP:0001574	Abnormality of the integument	54101	RIPK4	ORPHA:1401
HP:0001574	Abnormality of the integument	54101	RIPK4	OMIM:263650
HP:0001574	Abnormality of the integument	19	ABCA1	OMIM:205400
HP:0001574	Abnormality of the integument	19	ABCA1	ORPHA:31150
HP:0001574	Abnormality of the integument	114803	MYSM1	ORPHA:508542
HP:0001574	Abnormality of the integument	114803	MYSM1	OMIM:618116
HP:0001574	Abnormality of the integument	7849	PAX8	OMIM:218700
HP:0001574	Abnormality of the integument	7849	PAX8	ORPHA:95712
HP:0001574	Abnormality of the integument	7252	TSHB	ORPHA:90674
HP:0001574	Abnormality of the integument	7252	TSHB	OMIM:275100
HP:0001574	Abnormality of the integument	388698	FLG2	OMIM:618084
HP:0001574	Abnormality of the integument	56992	KIF15	ORPHA:261323
HP:0001574	Abnormality of the integument	26277	TINF2	OMIM:613990
HP:0001574	Abnormality of the integument	64834	ELOVL1	OMIM:618527
HP:0001574	Abnormality of the integument	10815	CPLX1	ORPHA:280
HP:0001574	Abnormality of the integument	54872	PIGG	ORPHA:280
HP:0001574	Abnormality of the integument	7469	NELFA	ORPHA:280
HP:0001574	Abnormality of the integument	1487	CTBP1	ORPHA:280
HP:0001574	Abnormality of the integument	3954	LETM1	ORPHA:280
HP:0001574	Abnormality of the integument	7468	NSD2	ORPHA:280
HP:0001574	Abnormality of the integument	55012	PPP2R3C	OMIM:618419
HP:0001574	Abnormality of the integument	2783	GNB2	OMIM:619503
HP:0001574	Abnormality of the integument	1474	CST6	OMIM:618535
HP:0001574	Abnormality of the integument	200734	SPRED2	OMIM:619745
HP:0001574	Abnormality of the integument	4853	NOTCH2	ORPHA:955
HP:0001574	Abnormality of the integument	3981	LIG4	ORPHA:235
HP:0001574	Abnormality of the integument	3981	LIG4	ORPHA:39041
HP:0001574	Abnormality of the integument	54888	NSUN2	ORPHA:235
HP:0001574	Abnormality of the integument	4953	ODC1	OMIM:619075
HP:0001574	Abnormality of the integument	2550	GABBR1	OMIM:620502
HP:0001574	Abnormality of the integument	11128	POLR3A	OMIM:264090
HP:0001574	Abnormality of the integument	55719	SLF2	OMIM:620184
HP:0001574	Abnormality of the integument	283209	PGM2L1	OMIM:620191
HP:0001574	Abnormality of the integument	2312	FLG	ORPHA:461
HP:0001574	Abnormality of the integument	2312	FLG	OMIM:146700
HP:0001574	Abnormality of the integument	412	STS	ORPHA:461
HP:0001574	Abnormality of the integument	2934	GSN	ORPHA:85448
HP:0001574	Abnormality of the integument	253959	RALGAPA1	OMIM:618797
HP:0001574	Abnormality of the integument	5594	MAPK1	OMIM:619087
HP:0001574	Abnormality of the integument	51163	DBR1	OMIM:620510
HP:0001574	Abnormality of the integument	6785	ELOVL4	ORPHA:1955
HP:0001574	Abnormality of the integument	6785	ELOVL4	OMIM:614457
HP:0001574	Abnormality of the integument	9180	OSMR	OMIM:105250
HP:0001574	Abnormality of the integument	57654	UVSSA	OMIM:614640
HP:0001574	Abnormality of the integument	4733	DRG1	OMIM:620641
HP:0001574	Abnormality of the integument	64127	NOD2	ORPHA:90340
HP:0001574	Abnormality of the integument	7201	TRHR	ORPHA:99832
HP:0001574	Abnormality of the integument	6528	SLC5A5	OMIM:274400
HP:0001574	Abnormality of the integument	117581	TWIST2	ORPHA:920
HP:0001574	Abnormality of the integument	117581	TWIST2	OMIM:200110
HP:0001574	Abnormality of the integument	117581	TWIST2	OMIM:209885
HP:0001574	Abnormality of the integument	112752	IFT43	OMIM:614099
HP:0001574	Abnormality of the integument	5587	PRKD1	OMIM:617364
HP:0001574	Abnormality of the integument	10457	GPNMB	OMIM:617920
HP:0001574	Abnormality of the integument	7319	UBE2A	ORPHA:163956
HP:0001574	Abnormality of the integument	7319	UBE2A	OMIM:300860
HP:0001574	Abnormality of the integument	5908	RAP1B	OMIM:620654
HP:0001574	Abnormality of the integument	55770	EXOC2	OMIM:619306
HP:0001574	Abnormality of the integument	165918	RNF168	OMIM:611943
HP:0001574	Abnormality of the integument	10535	RNASEH2A	ORPHA:51
HP:0001574	Abnormality of the integument	84153	RNASEH2C	ORPHA:51
HP:0001574	Abnormality of the integument	25939	SAMHD1	ORPHA:51
HP:0001574	Abnormality of the integument	25939	SAMHD1	OMIM:612952
HP:0001574	Abnormality of the integument	79621	RNASEH2B	ORPHA:51
HP:0001574	Abnormality of the integument	103	ADAR	ORPHA:51
HP:0001574	Abnormality of the integument	100147744	RNU7-1	ORPHA:51
HP:0001574	Abnormality of the integument	100147744	RNU7-1	OMIM:619487
HP:0001574	Abnormality of the integument	134353	LSM11	ORPHA:51
HP:0001574	Abnormality of the integument	64135	IFIH1	ORPHA:51
HP:0001574	Abnormality of the integument	23013	SPEN	OMIM:619312
HP:0001574	Abnormality of the integument	100151683	RNU4ATAC	OMIM:210710
HP:0001574	Abnormality of the integument	2355	FOSL2	OMIM:620789
HP:0001574	Abnormality of the integument	4308	TRPM1	OMIM:613216
HP:0001574	Abnormality of the integument	9526	MPDU1	OMIM:609180
HP:0001574	Abnormality of the integument	831	CAST	OMIM:616295
HP:0001574	Abnormality of the integument	5053	PAH	OMIM:261600
HP:0001574	Abnormality of the integument	7200	TRH	OMIM:275120
HP:0001574	Abnormality of the integument	9837	GINS1	OMIM:617827
HP:0001574	Abnormality of the integument	3417	IDH1	ORPHA:99646
HP:0001574	Abnormality of the integument	5604	MAP2K1	ORPHA:1340
HP:0001574	Abnormality of the integument	5604	MAP2K1	OMIM:163950
HP:0001574	Abnormality of the integument	5605	MAP2K2	ORPHA:1340
HP:0001574	Abnormality of the integument	22845	DOLK	OMIM:610768
HP:0001574	Abnormality of the integument	1482	NKX2-5	ORPHA:95712
HP:0001574	Abnormality of the integument	538	ATP7A	ORPHA:565
HP:0001574	Abnormality of the integument	5283	PIGH	OMIM:618010
HP:0001574	Abnormality of the integument	7067	THRA	OMIM:614450
HP:0001574	Abnormality of the integument	57511	COG6	OMIM:614576
HP:0001574	Abnormality of the integument	6304	SATB1	OMIM:619229
HP:0001574	Abnormality of the integument	3643	INSR	OMIM:262190
HP:0001574	Abnormality of the integument	3643	INSR	ORPHA:769
HP:0001574	Abnormality of the integument	55636	CHD7	ORPHA:39041
HP:0001574	Abnormality of the integument	5896	RAG1	ORPHA:39041
HP:0001574	Abnormality of the integument	5897	RAG2	ORPHA:39041
HP:0001574	Abnormality of the integument	64421	DCLRE1C	ORPHA:39041
HP:0001574	Abnormality of the integument	100	ADA	ORPHA:39041
HP:0001574	Abnormality of the integument	3575	IL7R	ORPHA:39041
HP:0001574	Abnormality of the integument	3561	IL2RG	ORPHA:39041
HP:0001574	Abnormality of the integument	5184	PEPD	ORPHA:742
HP:0001574	Abnormality of the integument	9325	TRIP4	OMIM:617066
HP:0001574	Abnormality of the integument	9325	TRIP4	ORPHA:486815
HP:0001574	Abnormality of the integument	2222	FDFT1	OMIM:618156
HP:0001574	Abnormality of the integument	440138	ALG11	ORPHA:280071
HP:0001574	Abnormality of the integument	91875	TTC5	OMIM:619244
HP:0001574	Abnormality of the integument	9076	CLDN1	OMIM:607626
HP:0001574	Abnormality of the integument	84905	ZNF341	OMIM:618282
HP:0001574	Abnormality of the integument	5264	PHYH	ORPHA:773
HP:0001574	Abnormality of the integument	5191	PEX7	ORPHA:773
HP:0001574	Abnormality of the integument	7480	WNT10B	OMIM:617073
HP:0001574	Abnormality of the integument	1650	DDOST	ORPHA:300536
HP:0001574	Abnormality of the integument	9487	PIGL	OMIM:280000
HP:0001574	Abnormality of the integument	5116	PCNT	ORPHA:2637
HP:0001574	Abnormality of the integument	8815	BANF1	OMIM:614008
HP:0001574	Abnormality of the integument	284058	KANSL1	OMIM:610443
HP:0001574	Abnormality of the integument	8799	PEX11B	OMIM:614920
HP:0001574	Abnormality of the integument	10295	BCKDK	OMIM:614923
HP:0001574	Abnormality of the integument	8481	OFD1	ORPHA:2750
HP:0001574	Abnormality of the integument	4668	NAGA	OMIM:609242
HP:0001574	Abnormality of the integument	5965	RECQL	OMIM:620370
HP:0001574	Abnormality of the integument	55181	SMG8	OMIM:619268
HP:0001574	Abnormality of the integument	8942	KYNU	ORPHA:79155
HP:0001574	Abnormality of the integument	128674	PROKR2	ORPHA:3157
HP:0001574	Abnormality of the integument	6657	SOX2	ORPHA:3157
HP:0001574	Abnormality of the integument	6658	SOX3	ORPHA:3157
HP:0001574	Abnormality of the integument	9915	ARNT2	ORPHA:3157
HP:0001574	Abnormality of the integument	8820	HESX1	ORPHA:3157
HP:0001574	Abnormality of the integument	5015	OTX2	ORPHA:3157
HP:0001574	Abnormality of the integument	5781	PTPN11	OMIM:163950
HP:0001574	Abnormality of the integument	1859	DYRK1A	ORPHA:268261
HP:0001574	Abnormality of the integument	1859	DYRK1A	OMIM:614104
HP:0001574	Abnormality of the integument	6347	CCL2	OMIM:182940
HP:0001574	Abnormality of the integument	81839	VANGL1	OMIM:182940
HP:0001574	Abnormality of the integument	80199	FUZ	OMIM:182940
HP:0001574	Abnormality of the integument	6862	TBXT	OMIM:182940
HP:0001574	Abnormality of the integument	57216	VANGL2	OMIM:182940
HP:0001574	Abnormality of the integument	4076	CAPRIN1	OMIM:620782
HP:0001574	Abnormality of the integument	79783	SUGCT	ORPHA:35706
HP:0001574	Abnormality of the integument	1725	DHPS	OMIM:618480
HP:0001574	Abnormality of the integument	8642	DCHS1	OMIM:601390
HP:0001574	Abnormality of the integument	56006	SMG9	OMIM:619995
HP:0001574	Abnormality of the integument	23137	SMC5	OMIM:620185
HP:0001574	Abnormality of the integument	51715	RAB23	OMIM:201000
HP:0001574	Abnormality of the integument	3090	HIC1	ORPHA:531
HP:0001574	Abnormality of the integument	5048	PAFAH1B1	ORPHA:531
HP:0001574	Abnormality of the integument	7531	YWHAE	ORPHA:531
HP:0001574	Abnormality of the integument	55191	NADSYN1	OMIM:618845
HP:0001574	Abnormality of the integument	23299	BICD2	OMIM:618291
HP:0001574	Abnormality of the integument	6910	TBX5	OMIM:142900
HP:0001574	Abnormality of the integument	137814	NKX2-6	ORPHA:3384
HP:0001574	Abnormality of the integument	23129	PLXND1	ORPHA:3384
HP:0001574	Abnormality of the integument	51422	PRKAG2	OMIM:261740
HP:0001574	Abnormality of the integument	4625	MYH7	ORPHA:1880
HP:0001574	Abnormality of the integument	2653	GCSH	OMIM:620423
HP:0001574	Abnormality of the integument	5250	SLC25A3	ORPHA:91130
HP:0001574	Abnormality of the integument	5250	SLC25A3	OMIM:610773
HP:0001574	Abnormality of the integument	6334	SCN8A	ORPHA:306
HP:0001574	Abnormality of the integument	112476	PRRT2	ORPHA:306
HP:0001574	Abnormality of the integument	3786	KCNQ3	ORPHA:306
HP:0001574	Abnormality of the integument	6440	SFTPC	OMIM:610913
HP:0001574	Abnormality of the integument	6440	SFTPC	ORPHA:685082
HP:0001574	Abnormality of the integument	6439	SFTPB	OMIM:265120
HP:0001574	Abnormality of the integument	6439	SFTPB	ORPHA:685082
HP:0001574	Abnormality of the integument	7547	ZIC3	OMIM:306955
HP:0001574	Abnormality of the integument	5105	PCK1	OMIM:261680
HP:0001574	Abnormality of the integument	21	ABCA3	OMIM:610921
HP:0001574	Abnormality of the integument	21	ABCA3	ORPHA:685082
HP:0001574	Abnormality of the integument	118856	MMP21	OMIM:616749
HP:0001574	Abnormality of the integument	83480	PUS3	ORPHA:488627
HP:0001574	Abnormality of the integument	2898	GRIK2	OMIM:619580
HP:0001574	Abnormality of the integument	788	SLC25A20	ORPHA:159
HP:0001574	Abnormality of the integument	7092	TLL1	ORPHA:99106
HP:0001574	Abnormality of the integument	7092	TLL1	ORPHA:99103
HP:0001574	Abnormality of the integument	3028	HSD17B10	ORPHA:391428
HP:0001574	Abnormality of the integument	5337	PLD1	OMIM:212093
HP:0001574	Abnormality of the integument	57057	TBX20	ORPHA:99103
HP:0001574	Abnormality of the integument	4624	MYH6	ORPHA:99103
HP:0001574	Abnormality of the integument	70	ACTC1	ORPHA:99103
HP:0001574	Abnormality of the integument	10370	CITED2	ORPHA:99103
HP:0001574	Abnormality of the integument	2626	GATA4	ORPHA:99103
HP:0001574	Abnormality of the integument	2627	GATA6	ORPHA:99103
HP:0001574	Abnormality of the integument	8021	NUP214	OMIM:618426
HP:0001574	Abnormality of the integument	79770	TXNDC15	OMIM:619879
HP:0001574	Abnormality of the integument	60482	SLC5A7	ORPHA:98914
HP:0001574	Abnormality of the integument	4649	MYO9A	ORPHA:98914
HP:0001574	Abnormality of the integument	1305	COL13A1	ORPHA:98914
HP:0001574	Abnormality of the integument	1305	COL13A1	ORPHA:98913
HP:0001574	Abnormality of the integument	1103	CHAT	ORPHA:98914
HP:0001574	Abnormality of the integument	6576	SLC25A1	ORPHA:98914
HP:0001574	Abnormality of the integument	6843	VAMP1	ORPHA:98914
HP:0001574	Abnormality of the integument	375790	AGRN	ORPHA:98914
HP:0001574	Abnormality of the integument	375790	AGRN	ORPHA:98913
HP:0001574	Abnormality of the integument	127833	SYT2	ORPHA:98914
HP:0001574	Abnormality of the integument	6616	SNAP25	ORPHA:98914
HP:0001574	Abnormality of the integument	1134	CHRNA1	ORPHA:98913
HP:0001574	Abnormality of the integument	1140	CHRNB1	ORPHA:98913
HP:0001574	Abnormality of the integument	1144	CHRND	ORPHA:98913
HP:0001574	Abnormality of the integument	1145	CHRNE	ORPHA:98913
HP:0001574	Abnormality of the integument	221264	AK9	ORPHA:98913
HP:0001574	Abnormality of the integument	4724	NDUFS4	OMIM:252010
HP:0001574	Abnormality of the integument	54916	TMEM260	OMIM:617478
HP:0001574	Abnormality of the integument	10568	SLC34A2	ORPHA:60025
HP:0001574	Abnormality of the integument	826	CAPNS1	OMIM:620777
HP:0001574	Abnormality of the integument	84705	GTPBP3	ORPHA:444013
HP:0001574	Abnormality of the integument	23586	RIGI	OMIM:616298
HP:0001574	Abnormality of the integument	63916	ELMO2	ORPHA:3019
HP:0001574	Abnormality of the integument	10013	HDAC6	ORPHA:163966
HP:0001574	Abnormality of the integument	1174	AP1S1	ORPHA:171851
HP:0001574	Abnormality of the integument	2744	GLS	OMIM:618339
HP:0001574	Abnormality of the integument	29969	MDFIC	OMIM:620014
HP:0001574	Abnormality of the integument	2332	FMR1	ORPHA:449291
HP:0001574	Abnormality of the integument	1147	CHUK	OMIM:613630
HP:0001574	Abnormality of the integument	375	ARF1	ORPHA:98892
HP:0001574	Abnormality of the integument	23327	NEDD4L	ORPHA:98892
HP:0001574	Abnormality of the integument	160418	TMTC3	ORPHA:98892
HP:0001574	Abnormality of the integument	10564	ARFGEF2	ORPHA:98892
HP:0001574	Abnormality of the integument	26960	NBEA	OMIM:619157
HP:0001574	Abnormality of the integument	6777	STAT5B	OMIM:618985
HP:0001574	Abnormality of the integument	9759	HDAC4	ORPHA:1001
HP:0001574	Abnormality of the integument	9759	HDAC4	OMIM:600430
HP:0001574	Abnormality of the integument	4522	MTHFD1	OMIM:617780
HP:0001574	Abnormality of the integument	3021	H3-3B	OMIM:619721
HP:0001574	Abnormality of the integument	841	CASP8	OMIM:607271
HP:0001574	Abnormality of the integument	79631	EFL1	ORPHA:811
HP:0001574	Abnormality of the integument	51119	SBDS	ORPHA:811
HP:0001574	Abnormality of the integument	7175	TPR	OMIM:620393
HP:0001574	Abnormality of the integument	7780	SLC30A2	OMIM:608118
HP:0001574	Abnormality of the integument	6601	SMARCC2	OMIM:618362
HP:0001574	Abnormality of the integument	3572	IL6ST	OMIM:618523
HP:0001574	Abnormality of the integument	3572	IL6ST	OMIM:619751
HP:0001574	Abnormality of the integument	686	BTD	ORPHA:79241
HP:0001574	Abnormality of the integument	3117	HLA-DQA1	OMIM:212750
HP:0001574	Abnormality of the integument	6821	SUOX	OMIM:272300
HP:0001574	Abnormality of the integument	5095	PCCA	OMIM:606054
HP:0001574	Abnormality of the integument	5096	PCCB	OMIM:606054
HP:0001574	Abnormality of the integument	4478	MSN	OMIM:300988
HP:0001574	Abnormality of the integument	26053	AUTS2	ORPHA:352490
HP:0001574	Abnormality of the integument	51428	DDX41	OMIM:616871
HP:0001574	Abnormality of the integument	93627	TBCK	ORPHA:488632
HP:0001574	Abnormality of the integument	267010	RNU12	ORPHA:85199
HP:0001574	Abnormality of the integument	64864	RFX7	OMIM:620330
HP:0001574	Abnormality of the integument	10043	TOM1	OMIM:619510
HP:0001574	Abnormality of the integument	25914	RTTN	ORPHA:468631
HP:0001574	Abnormality of the integument	6872	TAF1	OMIM:300966
HP:0001574	Abnormality of the integument	5294	PIK3CG	OMIM:619802
HP:0001574	Abnormality of the integument	917	CD3G	OMIM:615607
HP:0001574	Abnormality of the integument	23387	SIK3	OMIM:618162
HP:0001574	Abnormality of the integument	3978	LIG1	OMIM:619774
HP:0001574	Abnormality of the integument	5879	RAC1	OMIM:617751
HP:0001574	Abnormality of the integument	5879	RAC1	ORPHA:500159
HP:0001574	Abnormality of the integument	2678	GGT1	OMIM:231950
HP:0001574	Abnormality of the integument	203190	LGI3	OMIM:620007
HP:0001574	Abnormality of the integument	56160	NSMCE3	OMIM:617241
HP:0001574	Abnormality of the integument	2982	GUCY1A1	OMIM:615750
HP:0001574	Abnormality of the integument	2982	GUCY1A1	ORPHA:401945
HP:0001574	Abnormality of the integument	189	AGXT	OMIM:259900
HP:0001574	Abnormality of the integument	8364	H4C3	OMIM:619758
HP:0001574	Abnormality of the integument	4629	MYH11	ORPHA:229
HP:0001574	Abnormality of the integument	4629	MYH11	ORPHA:91387
HP:0001574	Abnormality of the integument	4774	NFIA	OMIM:613735
HP:0001574	Abnormality of the integument	4774	NFIA	ORPHA:401986
HP:0001574	Abnormality of the integument	79068	FTO	OMIM:612938
HP:0001574	Abnormality of the integument	1663	DDX11	OMIM:613398
HP:0001574	Abnormality of the integument	59	ACTA2	ORPHA:91387
HP:0001574	Abnormality of the integument	5592	PRKG1	ORPHA:91387
HP:0001574	Abnormality of the integument	2301	FOXE3	ORPHA:91387
HP:0001574	Abnormality of the integument	4144	MAT2A	ORPHA:91387
HP:0001574	Abnormality of the integument	23493	HEY2	ORPHA:91387
HP:0001574	Abnormality of the integument	8076	MFAP5	ORPHA:91387
HP:0001574	Abnormality of the integument	4638	MYLK	ORPHA:91387
HP:0001574	Abnormality of the integument	79875	THSD4	ORPHA:91387
HP:0001574	Abnormality of the integument	1497	CTNS	OMIM:219800
HP:0001574	Abnormality of the integument	54084	TSPEAR	OMIM:618180
HP:0001574	Abnormality of the integument	60529	ALX4	OMIM:613451
HP:0001574	Abnormality of the integument	8518	ELP1	ORPHA:1764
HP:0001574	Abnormality of the integument	85446	ZFHX2	OMIM:147430
HP:0001574	Abnormality of the integument	29926	GMPPA	OMIM:615510
HP:0001574	Abnormality of the integument	85358	SHANK3	OMIM:606232
HP:0001574	Abnormality of the integument	3074	HEXB	OMIM:268800
HP:0001574	Abnormality of the integument	113179	ADAT3	ORPHA:363528
HP:0001574	Abnormality of the integument	2717	GLA	ORPHA:324
HP:0001574	Abnormality of the integument	2717	GLA	OMIM:301500
HP:0001574	Abnormality of the integument	1301	COL11A1	ORPHA:560
HP:0001574	Abnormality of the integument	59335	PRDM12	OMIM:616488
HP:0001574	Abnormality of the integument	60401	EDA2R	ORPHA:181
HP:0001574	Abnormality of the integument	8567	MADD	OMIM:619004
HP:0001574	Abnormality of the integument	5422	POLA1	OMIM:301220
HP:0001574	Abnormality of the integument	3977	LIFR	ORPHA:3206
HP:0001574	Abnormality of the integument	284111	SLC13A5	ORPHA:1946
HP:0001574	Abnormality of the integument	79641	ROGDI	ORPHA:1946
HP:0001574	Abnormality of the integument	9244	CRLF1	ORPHA:1545
HP:0001574	Abnormality of the integument	2690	GHR	ORPHA:633
HP:0001574	Abnormality of the integument	54809	SAMD9	OMIM:617053
HP:0001574	Abnormality of the integument	5335	PLCG1	OMIM:620514
HP:0001574	Abnormality of the integument	11274	USP18	OMIM:617397
HP:0001574	Abnormality of the integument	55340	GIMAP5	OMIM:619463
HP:0001574	Abnormality of the integument	4069	LYZ	OMIM:620658
HP:0001574	Abnormality of the integument	8313	AXIN2	ORPHA:401911
HP:0001574	Abnormality of the integument	83999	KREMEN1	OMIM:617392
HP:0001574	Abnormality of the integument	84876	ORAI1	OMIM:612782
HP:0001574	Abnormality of the integument	81607	NECTIN4	OMIM:613573
HP:0001574	Abnormality of the integument	5317	PKP1	OMIM:604536
HP:0001574	Abnormality of the integument	1896	EDA	OMIM:305100
HP:0001574	Abnormality of the integument	9071	CLDN10	OMIM:617671
HP:0001574	Abnormality of the integument	55768	NGLY1	OMIM:615273
HP:0001574	Abnormality of the integument	816	CAMK2B	OMIM:617799
HP:0001574	Abnormality of the integument	4803	NGF	ORPHA:64752
HP:0001574	Abnormality of the integument	4803	NGF	OMIM:608654
HP:0001574	Abnormality of the integument	4914	NTRK1	ORPHA:64752
HP:0001574	Abnormality of the integument	4914	NTRK1	ORPHA:642
HP:0001574	Abnormality of the integument	4914	NTRK1	OMIM:256800
HP:0001574	Abnormality of the integument	6660	SOX5	ORPHA:626
HP:0001574	Abnormality of the integument	238	ALK	ORPHA:626
HP:0001574	Abnormality of the integument	9839	ZEB2	ORPHA:626
HP:0001574	Abnormality of the integument	4893	NRAS	ORPHA:626
HP:0001574	Abnormality of the integument	673	BRAF	ORPHA:626
HP:0001574	Abnormality of the integument	5894	RAF1	ORPHA:626
HP:0001574	Abnormality of the integument	6261	RYR1	ORPHA:466650
HP:0001574	Abnormality of the integument	27235	COQ2	OMIM:146500
HP:0001574	Abnormality of the integument	3861	KRT14	ORPHA:69087
HP:0001574	Abnormality of the integument	65125	WNK1	OMIM:201300
HP:0001574	Abnormality of the integument	54463	RETREG1	OMIM:201300
HP:0001574	Abnormality of the integument	6335	SCN9A	OMIM:201300
HP:0001574	Abnormality of the integument	6335	SCN9A	OMIM:243000
HP:0001574	Abnormality of the integument	547	KIF1A	OMIM:201300
HP:0001574	Abnormality of the integument	617	BCS1L	OMIM:262000
HP:0001574	Abnormality of the integument	9517	SPTLC2	OMIM:613640
HP:0001574	Abnormality of the integument	4792	NFKBIA	OMIM:612132
HP:0001574	Abnormality of the integument	91039	DPP9	OMIM:620331
HP:0001574	Abnormality of the integument	1161	ERCC8	OMIM:216400
HP:0001574	Abnormality of the integument	80216	ALPK1	OMIM:614979
HP:0001574	Abnormality of the integument	4001	LMNB1	ORPHA:99027
HP:0001574	Abnormality of the integument	4487	MSX1	OMIM:189500
HP:0001574	Abnormality of the integument	54345	SOX18	OMIM:607823
HP:0001574	Abnormality of the integument	7700	ZNF141	OMIM:615226
HP:0001574	Abnormality of the integument	79574	EPS8L3	OMIM:612841
HP:0001574	Abnormality of the integument	3229	HOXC13	OMIM:614931
HP:0001574	Abnormality of the integument	3891	KRT85	OMIM:602032
HP:0001574	Abnormality of the integument	10159	ATP6AP2	OMIM:301045
HP:0001574	Abnormality of the integument	8425	LTBP4	OMIM:613177
HP:0001574	Abnormality of the integument	10653	SPINT2	OMIM:270420
HP:0001574	Abnormality of the integument	537	ATP6AP1	OMIM:300972
HP:0001574	Abnormality of the integument	10000	AKT3	OMIM:615937
HP:0001574	Abnormality of the integument	7058	THBS2	OMIM:620865
HP:0001574	Abnormality of the integument	1836	SLC26A2	ORPHA:628
HP:0001574	Abnormality of the integument	91252	SLC39A13	ORPHA:157965
HP:0001574	Abnormality of the integument	91252	SLC39A13	OMIM:612350
HP:0001574	Abnormality of the integument	2245	FGD1	ORPHA:915
HP:0001574	Abnormality of the integument	8974	P4HA2	ORPHA:397
HP:0001574	Abnormality of the integument	23769	FLRT1	ORPHA:320406
HP:0001574	Abnormality of the integument	64837	KLC2	ORPHA:320406
HP:0001574	Abnormality of the integument	64837	KLC2	OMIM:609541
HP:0001574	Abnormality of the integument	3094	HINT1	ORPHA:324442
HP:0001574	Abnormality of the integument	3094	HINT1	OMIM:137200
HP:0001574	Abnormality of the integument	23516	SLC39A14	OMIM:617013
HP:0001574	Abnormality of the integument	9881	TRANK1	ORPHA:33543
HP:0001574	Abnormality of the integument	6571	SLC18A2	ORPHA:352649
HP:0001574	Abnormality of the integument	6571	SLC18A2	OMIM:618049
HP:0001574	Abnormality of the integument	3190	HNRNPK	ORPHA:453504
HP:0001574	Abnormality of the integument	3190	HNRNPK	ORPHA:352665
HP:0001574	Abnormality of the integument	3481	IGF2	ORPHA:231140
HP:0001574	Abnormality of the integument	283120	H19	ORPHA:231140
HP:0001574	Abnormality of the integument	1644	DDC	ORPHA:35708
HP:0001574	Abnormality of the integument	1644	DDC	OMIM:608643
HP:0001574	Abnormality of the integument	3736	KCNA1	ORPHA:37612
HP:0001574	Abnormality of the integument	3508	IGHMBP2	OMIM:604320
HP:0001574	Abnormality of the integument	1185	CLCN6	OMIM:619173
HP:0001574	Abnormality of the integument	8929	PHOX2B	ORPHA:2151
HP:0001574	Abnormality of the integument	8929	PHOX2B	OMIM:209880
HP:0001574	Abnormality of the integument	80204	FBXO11	OMIM:618089
HP:0001574	Abnormality of the integument	7555	CNBP	ORPHA:606
HP:0001574	Abnormality of the integument	5621	PRNP	OMIM:600072
HP:0001574	Abnormality of the integument	5621	PRNP	ORPHA:466
HP:0001574	Abnormality of the integument	84133	ZNRF3	ORPHA:1501
HP:0001574	Abnormality of the integument	8802	SUCLG1	OMIM:245400
HP:0001574	Abnormality of the integument	8802	SUCLG1	ORPHA:17
HP:0001574	Abnormality of the integument	388962	BOLA3	OMIM:614299
HP:0001574	Abnormality of the integument	330	BIRC3	ORPHA:52417
HP:0001574	Abnormality of the integument	10892	MALT1	ORPHA:52417
HP:0001574	Abnormality of the integument	27086	FOXP1	ORPHA:52417
HP:0001574	Abnormality of the integument	3492	IGH	ORPHA:52417
HP:0001574	Abnormality of the integument	8915	BCL10	ORPHA:52417
HP:0001574	Abnormality of the integument	7528	YY1	ORPHA:97279
HP:0001574	Abnormality of the integument	100134444	KCNJ18	ORPHA:79102
HP:0001574	Abnormality of the integument	2556	GABRA3	ORPHA:79102
HP:0001574	Abnormality of the integument	779	CACNA1S	ORPHA:79102
HP:0001574	Abnormality of the integument	6697	SPR	ORPHA:70594
HP:0001574	Abnormality of the integument	2887	GRB10	ORPHA:96182
HP:0001574	Abnormality of the integument	9373	PLAA	ORPHA:521426
HP:0001574	Abnormality of the integument	55164	SHQ1	OMIM:619922
HP:0001574	Abnormality of the integument	1512	CTSH	ORPHA:2073
HP:0001574	Abnormality of the integument	5032	P2RY11	ORPHA:2073
HP:0001574	Abnormality of the integument	4340	MOG	ORPHA:2073
HP:0001574	Abnormality of the integument	3060	HCRT	ORPHA:2073
HP:0001574	Abnormality of the integument	22891	ZNF365	ORPHA:2073
HP:0001574	Abnormality of the integument	7292	TNFSF4	ORPHA:2073
HP:0001574	Abnormality of the integument	8803	SUCLA2	OMIM:612073
HP:0001574	Abnormality of the integument	1188	CLCNKB	ORPHA:358
HP:0001574	Abnormality of the integument	6559	SLC12A3	ORPHA:358
HP:0001574	Abnormality of the integument	3835	KIF22	OMIM:603546
HP:0001574	Abnormality of the integument	81031	SLC2A10	OMIM:208050
HP:0001574	Abnormality of the integument	5351	PLOD1	OMIM:225400
HP:0001574	Abnormality of the integument	54453	RIN2	OMIM:613075
HP:0001574	Abnormality of the integument	1290	COL5A2	OMIM:130010
HP:0001574	Abnormality of the integument	54496	PRMT7	OMIM:617157
HP:0001574	Abnormality of the integument	9091	PIGQ	OMIM:618548
HP:0001574	Abnormality of the integument	6678	SPARC	OMIM:616507
HP:0001574	Abnormality of the integument	5076	PAX2	OMIM:120330
HP:0001574	Abnormality of the integument	4125	MAN2B1	ORPHA:309282
HP:0001574	Abnormality of the integument	7148	TNXB	OMIM:606408
HP:0001574	Abnormality of the integument	715	C1R	OMIM:130080
HP:0001574	Abnormality of the integument	4507	MTAP	OMIM:112250
HP:0001574	Abnormality of the integument	6885	MAP3K7	OMIM:157800
HP:0001574	Abnormality of the integument	25	ABL1	OMIM:617602
HP:0001574	Abnormality of the integument	55033	FKBP14	OMIM:614557
HP:0001574	Abnormality of the integument	3756	KCNH1	ORPHA:3473
HP:0001574	Abnormality of the integument	3782	KCNN3	ORPHA:3473
HP:0001574	Abnormality of the integument	7042	TGFB2	OMIM:614816
HP:0001574	Abnormality of the integument	51085	MLXIPL	OMIM:194050
HP:0001574	Abnormality of the integument	2811	GP1BA	OMIM:153670
HP:0001574	Abnormality of the integument	2811	GP1BA	ORPHA:274
HP:0001574	Abnormality of the integument	2815	GP9	ORPHA:274
HP:0001574	Abnormality of the integument	2266	FGG	OMIM:202400
HP:0001574	Abnormality of the integument	2244	FGB	OMIM:202400
HP:0001574	Abnormality of the integument	2158	F9	OMIM:306900
HP:0001574	Abnormality of the integument	2120	ETV6	OMIM:616216
HP:0001574	Abnormality of the integument	10235	RASGRP2	OMIM:615888
HP:0001574	Abnormality of the integument	23218	NBEAL2	OMIM:139090
HP:0001574	Abnormality of the integument	23218	NBEAL2	ORPHA:721
HP:0001574	Abnormality of the integument	51206	GP6	OMIM:614201
HP:0001574	Abnormality of the integument	3674	ITGA2B	ORPHA:849
HP:0001574	Abnormality of the integument	3674	ITGA2B	OMIM:273800
HP:0001574	Abnormality of the integument	3690	ITGB3	ORPHA:849
HP:0001574	Abnormality of the integument	3690	ITGB3	OMIM:619267
HP:0001574	Abnormality of the integument	90993	CREB3L1	OMIM:616229
HP:0001574	Abnormality of the integument	2159	F10	ORPHA:328
HP:0001574	Abnormality of the integument	9103	FCGR2C	ORPHA:3002
HP:0001574	Abnormality of the integument	2155	F7	ORPHA:327
HP:0001574	Abnormality of the integument	2155	F7	OMIM:227500
HP:0001574	Abnormality of the integument	4627	MYH9	OMIM:155100
HP:0001574	Abnormality of the integument	4627	MYH9	ORPHA:182050
HP:0001574	Abnormality of the integument	22852	ANKRD26	OMIM:188000
HP:0001574	Abnormality of the integument	5328	PLAU	OMIM:601709
HP:0001574	Abnormality of the integument	342618	SLFN14	OMIM:616913
HP:0001574	Abnormality of the integument	7450	VWF	OMIM:193400
HP:0001574	Abnormality of the integument	7450	VWF	OMIM:613554
HP:0001574	Abnormality of the integument	7450	VWF	OMIM:277480
HP:0001574	Abnormality of the integument	64805	P2RY12	OMIM:609821
HP:0001574	Abnormality of the integument	5345	SERPINF2	ORPHA:79
HP:0001574	Abnormality of the integument	5345	SERPINF2	OMIM:262850
HP:0001574	Abnormality of the integument	3998	LMAN1	ORPHA:35909
HP:0001574	Abnormality of the integument	90411	MCFD2	ORPHA:35909
HP:0001574	Abnormality of the integument	200931	SLC51A	OMIM:619484
HP:0001574	Abnormality of the integument	11117	EMILIN1	OMIM:620080
HP:0001574	Abnormality of the integument	6915	TBXA2R	OMIM:614009
HP:0001574	Abnormality of the integument	2147	F2	OMIM:613679
HP:0001574	Abnormality of the integument	7171	TPM4	OMIM:620486
HP:0001574	Abnormality of the integument	5795	PTPRJ	OMIM:620484
HP:0001574	Abnormality of the integument	5371	PML	ORPHA:520
HP:0001574	Abnormality of the integument	5914	RARA	ORPHA:520
HP:0001574	Abnormality of the integument	81608	FIP1L1	ORPHA:520
HP:0001574	Abnormality of the integument	64859	NABP1	ORPHA:520
HP:0001574	Abnormality of the integument	4926	NUMA1	ORPHA:520
HP:0001574	Abnormality of the integument	7704	ZBTB16	ORPHA:520
HP:0001574	Abnormality of the integument	8328	GFI1B	OMIM:187900
HP:0001574	Abnormality of the integument	975	CD81	OMIM:613496
HP:0001574	Abnormality of the integument	975	CD81	ORPHA:1572
HP:0001574	Abnormality of the integument	3673	ITGA2	ORPHA:853
HP:0001574	Abnormality of the integument	135228	CD109	ORPHA:853
HP:0001574	Abnormality of the integument	2533	FYB1	OMIM:273900
HP:0001574	Abnormality of the integument	717	C2	OMIM:217000
HP:0001574	Abnormality of the integument	23495	TNFRSF13B	ORPHA:1572
HP:0001574	Abnormality of the integument	115650	TNFRSF13C	ORPHA:1572
HP:0001574	Abnormality of the integument	8742	TNFSF12	ORPHA:1572
HP:0001574	Abnormality of the integument	930	CD19	ORPHA:1572
HP:0001574	Abnormality of the integument	29851	ICOS	ORPHA:1572
HP:0001574	Abnormality of the integument	931	MS4A1	ORPHA:1572
HP:0001574	Abnormality of the integument	3207	HOXA11	OMIM:605432
HP:0001574	Abnormality of the integument	10878	CFHR3	OMIM:235400
HP:0001574	Abnormality of the integument	3078	CFHR1	OMIM:235400
HP:0001574	Abnormality of the integument	3155	HMGCL	ORPHA:20
HP:0001574	Abnormality of the integument	3155	HMGCL	OMIM:246450
HP:0001574	Abnormality of the integument	6513	SLC2A1	ORPHA:64280
HP:0001574	Abnormality of the integument	2562	GABRB3	ORPHA:64280
HP:0001574	Abnormality of the integument	2554	GABRA1	ORPHA:64280
HP:0001574	Abnormality of the integument	2554	GABRA1	ORPHA:33069
HP:0001574	Abnormality of the integument	8912	CACNA1H	ORPHA:64280
HP:0001574	Abnormality of the integument	8629	JRK	ORPHA:64280
HP:0001574	Abnormality of the integument	2566	GABRG2	ORPHA:64280
HP:0001574	Abnormality of the integument	2566	GABRG2	ORPHA:33069
HP:0001574	Abnormality of the integument	8573	CASK	OMIM:300908
HP:0001574	Abnormality of the integument	2539	G6PD	OMIM:300908
HP:0001574	Abnormality of the integument	55240	STEAP3	OMIM:615234
HP:0001574	Abnormality of the integument	55240	STEAP3	ORPHA:300298
HP:0001574	Abnormality of the integument	84529	CDIN1	OMIM:615631
HP:0001574	Abnormality of the integument	55624	POMGNT1	OMIM:253280
HP:0001574	Abnormality of the integument	811	CALR	ORPHA:824
HP:0001574	Abnormality of the integument	811	CALR	OMIM:254450
HP:0001574	Abnormality of the integument	4352	MPL	ORPHA:824
HP:0001574	Abnormality of the integument	4352	MPL	OMIM:254450
HP:0001574	Abnormality of the integument	3717	JAK2	ORPHA:824
HP:0001574	Abnormality of the integument	3717	JAK2	OMIM:254450
HP:0001574	Abnormality of the integument	57679	ALS2	OMIM:606353
HP:0001574	Abnormality of the integument	113235	SLC46A1	ORPHA:90045
HP:0001574	Abnormality of the integument	2038	EPB42	ORPHA:822
HP:0001574	Abnormality of the integument	6521	SLC4A1	ORPHA:822
HP:0001574	Abnormality of the integument	6521	SLC4A1	OMIM:611590
HP:0001574	Abnormality of the integument	6710	SPTB	ORPHA:822
HP:0001574	Abnormality of the integument	6708	SPTA1	ORPHA:822
HP:0001574	Abnormality of the integument	286	ANK1	ORPHA:822
HP:0001574	Abnormality of the integument	23451	SF3B1	ORPHA:75564
HP:0001574	Abnormality of the integument	10312	TCIRG1	ORPHA:667
HP:0001574	Abnormality of the integument	1186	CLCN7	ORPHA:667
HP:0001574	Abnormality of the integument	29887	SNX10	ORPHA:667
HP:0001574	Abnormality of the integument	8600	TNFSF11	ORPHA:667
HP:0001574	Abnormality of the integument	3073	HEXA	OMIM:272800
HP:0001574	Abnormality of the integument	9227	LRAT	OMIM:613341
HP:0001574	Abnormality of the integument	60509	AGBL5	OMIM:617023
HP:0001574	Abnormality of the integument	123016	TTC8	OMIM:613464
HP:0001574	Abnormality of the integument	64072	CDH23	ORPHA:2965
HP:0001574	Abnormality of the integument	64072	CDH23	ORPHA:91347
HP:0001574	Abnormality of the integument	9049	AIP	ORPHA:2965
HP:0001574	Abnormality of the integument	3043	HBB	ORPHA:90039
HP:0001574	Abnormality of the integument	3043	HBB	ORPHA:46532
HP:0001574	Abnormality of the integument	3043	HBB	ORPHA:231214
HP:0001574	Abnormality of the integument	3043	HBB	ORPHA:231222
HP:0001574	Abnormality of the integument	3043	HBB	ORPHA:231226
HP:0001574	Abnormality of the integument	6833	ABCC8	ORPHA:276575
HP:0001574	Abnormality of the integument	3767	KCNJ11	ORPHA:276580
HP:0001574	Abnormality of the integument	8029	CUBN	ORPHA:35858
HP:0001574	Abnormality of the integument	81693	AMN	ORPHA:35858
HP:0001574	Abnormality of the integument	55154	MSTO1	OMIM:617675
HP:0001574	Abnormality of the integument	7428	VHL	ORPHA:276621
HP:0001574	Abnormality of the integument	7428	VHL	ORPHA:29072
HP:0001574	Abnormality of the integument	7428	VHL	ORPHA:892
HP:0001574	Abnormality of the integument	5979	RET	ORPHA:276621
HP:0001574	Abnormality of the integument	5979	RET	ORPHA:29072
HP:0001574	Abnormality of the integument	1788	DNMT3A	ORPHA:276621
HP:0001574	Abnormality of the integument	2034	EPAS1	ORPHA:276621
HP:0001574	Abnormality of the integument	8131	NPRL3	ORPHA:98820
HP:0001574	Abnormality of the integument	10641	NPRL2	ORPHA:98820
HP:0001574	Abnormality of the integument	9681	DEPDC5	ORPHA:98820
HP:0001574	Abnormality of the integument	5805	PTS	ORPHA:13
HP:0001574	Abnormality of the integument	5313	PKLR	OMIM:266200
HP:0001574	Abnormality of the integument	22	ABCB7	OMIM:301310
HP:0001574	Abnormality of the integument	212	ALAS2	ORPHA:75563
HP:0001574	Abnormality of the integument	80324	PUS1	OMIM:600462
HP:0001574	Abnormality of the integument	3172	HNF4A	ORPHA:263455
HP:0001574	Abnormality of the integument	773	CACNA1A	ORPHA:71518
HP:0001574	Abnormality of the integument	773	CACNA1A	ORPHA:2131
HP:0001574	Abnormality of the integument	3039	HBA1	ORPHA:163596
HP:0001574	Abnormality of the integument	3040	HBA2	ORPHA:163596
HP:0001574	Abnormality of the integument	10661	KLF1	ORPHA:46532
HP:0001574	Abnormality of the integument	3047	HBG1	ORPHA:46532
HP:0001574	Abnormality of the integument	3048	HBG2	ORPHA:46532
HP:0001574	Abnormality of the integument	595	CCND1	ORPHA:29073
HP:0001574	Abnormality of the integument	595	CCND1	ORPHA:892
HP:0001574	Abnormality of the integument	84839	RAX2	OMIM:610381
HP:0001574	Abnormality of the integument	10019	SH2B3	OMIM:254450
HP:0001574	Abnormality of the integument	4519	MT-CYB	ORPHA:137675
HP:0001574	Abnormality of the integument	1743	DLST	ORPHA:29072
HP:0001574	Abnormality of the integument	4191	MDH2	ORPHA:29072
HP:0001574	Abnormality of the integument	6389	SDHA	ORPHA:29072
HP:0001574	Abnormality of the integument	23095	KIF1B	ORPHA:29072
HP:0001574	Abnormality of the integument	8402	SLC25A11	ORPHA:29072
HP:0001574	Abnormality of the integument	54949	SDHAF2	ORPHA:29072
HP:0001574	Abnormality of the integument	55654	TMEM127	ORPHA:29072
HP:0001574	Abnormality of the integument	4149	MAX	ORPHA:29072
HP:0001574	Abnormality of the integument	6507	SLC1A3	ORPHA:2131
HP:0001574	Abnormality of the integument	477	ATP1A2	ORPHA:2131
HP:0001574	Abnormality of the integument	478	ATP1A3	ORPHA:2131
HP:0001574	Abnormality of the integument	6323	SCN1A	ORPHA:33069
HP:0001574	Abnormality of the integument	6324	SCN1B	ORPHA:33069
HP:0001574	Abnormality of the integument	57526	PCDH19	ORPHA:33069
HP:0001574	Abnormality of the integument	4976	OPA1	OMIM:165500
HP:0001574	Abnormality of the integument	2203	FBP1	ORPHA:348
HP:0001574	Abnormality of the integument	1303	COL12A1	ORPHA:536516
HP:0001574	Abnormality of the integument	374879	ZNF699	OMIM:619488
HP:0001574	Abnormality of the integument	2035	EPB41	OMIM:611804
HP:0001574	Abnormality of the integument	38	ACAT1	ORPHA:134
HP:0001574	Abnormality of the integument	9493	KIF23	ORPHA:98870
HP:0001574	Abnormality of the integument	29127	RACGAP1	ORPHA:98870
HP:0001574	Abnormality of the integument	3785	KCNQ2	ORPHA:439218
HP:0001574	Abnormality of the integument	57728	WDR19	OMIM:616307
HP:0001574	Abnormality of the integument	27249	MMADHC	ORPHA:79283
HP:0001574	Abnormality of the integument	2624	GATA2	ORPHA:228423
HP:0001574	Abnormality of the integument	84233	TMEM126A	OMIM:612989
HP:0001574	Abnormality of the integument	1719	DHFR	OMIM:613839
HP:0001574	Abnormality of the integument	6138	RPL15	ORPHA:124
HP:0001574	Abnormality of the integument	6165	RPL35A	ORPHA:124
HP:0001574	Abnormality of the integument	6132	RPL8	ORPHA:124
HP:0001574	Abnormality of the integument	6232	RPS27	ORPHA:124
HP:0001574	Abnormality of the integument	55027	HEATR3	ORPHA:124
HP:0001574	Abnormality of the integument	6160	RPL31	ORPHA:124
HP:0001574	Abnormality of the integument	6201	RPS7	ORPHA:124
HP:0001574	Abnormality of the integument	6155	RPL27	ORPHA:124
HP:0001574	Abnormality of the integument	6234	RPS28	ORPHA:124
HP:0001574	Abnormality of the integument	6135	RPL11	ORPHA:124
HP:0001574	Abnormality of the integument	6229	RPS24	ORPHA:124
HP:0001574	Abnormality of the integument	6125	RPL5	ORPHA:124
HP:0001574	Abnormality of the integument	6204	RPS10	ORPHA:124
HP:0001574	Abnormality of the integument	6133	RPL9	ORPHA:124
HP:0001574	Abnormality of the integument	6231	RPS26	ORPHA:124
HP:0001574	Abnormality of the integument	11224	RPL35	ORPHA:124
HP:0001574	Abnormality of the integument	6218	RPS17	ORPHA:124
HP:0001574	Abnormality of the integument	6154	RPL26	ORPHA:124
HP:0001574	Abnormality of the integument	6210	RPS15A	ORPHA:124
HP:0001574	Abnormality of the integument	90121	TSR2	ORPHA:124
HP:0001574	Abnormality of the integument	6141	RPL18	ORPHA:124
HP:0001574	Abnormality of the integument	6235	RPS29	ORPHA:124
HP:0001574	Abnormality of the integument	51816	ADA2	ORPHA:124
HP:0001574	Abnormality of the integument	4615	MYD88	ORPHA:33226
HP:0001574	Abnormality of the integument	6927	HNF1A	ORPHA:324575
HP:0001574	Abnormality of the integument	51067	YARS2	OMIM:613561
HP:0001574	Abnormality of the integument	7351	UCP2	ORPHA:276556
HP:0001574	Abnormality of the integument	5052	PRDX1	OMIM:277400
HP:0001574	Abnormality of the integument	25974	MMACHC	OMIM:277400
HP:0001574	Abnormality of the integument	57192	MCOLN1	ORPHA:578
HP:0001574	Abnormality of the integument	7020	TFAP2A	OMIM:113620
HP:0001574	Abnormality of the integument	7020	TFAP2A	ORPHA:1297
HP:0001574	Abnormality of the integument	10526	IPO8	ORPHA:60030
HP:0001574	Abnormality of the integument	7043	TGFB3	ORPHA:60030
HP:0001574	Abnormality of the integument	23385	NCSTN	OMIM:142690
HP:0001574	Abnormality of the integument	90268	OTULIN	OMIM:617099
HP:0001574	Abnormality of the integument	144811	LACC1	ORPHA:85414
HP:0001574	Abnormality of the integument	144811	LACC1	OMIM:618795
HP:0001574	Abnormality of the integument	4282	MIF	ORPHA:85414
HP:0001574	Abnormality of the integument	8737	RIPK1	OMIM:618108
HP:0001574	Abnormality of the integument	58484	NLRC4	OMIM:616050
HP:0001574	Abnormality of the integument	55788	LMBRD1	OMIM:277380
HP:0001574	Abnormality of the integument	55788	LMBRD1	ORPHA:79284
HP:0001574	Abnormality of the integument	5698	PSMB9	OMIM:620796
HP:0001574	Abnormality of the integument	5994	RFXAP	ORPHA:572
HP:0001574	Abnormality of the integument	4261	CIITA	ORPHA:572
HP:0001574	Abnormality of the integument	5993	RFX5	ORPHA:572
HP:0001574	Abnormality of the integument	8625	RFXANK	ORPHA:572
HP:0001574	Abnormality of the integument	5699	PSMB10	OMIM:619175
HP:0001574	Abnormality of the integument	10095	ARPC1B	OMIM:617718
HP:0001574	Abnormality of the integument	7010	TEK	ORPHA:1059
HP:0001574	Abnormality of the integument	23152	CIC	OMIM:617600
HP:0001574	Abnormality of the integument	84701	COX4I2	OMIM:612714
HP:0001574	Abnormality of the integument	2243	FGA	OMIM:105200
HP:0001574	Abnormality of the integument	5971	RELB	OMIM:617585
HP:0001574	Abnormality of the integument	5788	PTPRC	OMIM:619924
HP:0001574	Abnormality of the integument	91662	NLRP12	OMIM:611762
HP:0001574	Abnormality of the integument	5692	PSMB4	OMIM:617591
HP:0001574	Abnormality of the integument	3937	LCP2	OMIM:619374
HP:0001574	Abnormality of the integument	6850	SYK	OMIM:619381
HP:0001574	Abnormality of the integument	2000	ELF4	OMIM:301074
HP:0001574	Abnormality of the integument	9181	ARHGEF2	OMIM:617523
HP:0001574	Abnormality of the integument	7066	THPO	ORPHA:71493
HP:0001574	Abnormality of the integument	2235	FECH	OMIM:177000
HP:0001574	Abnormality of the integument	2235	FECH	ORPHA:79278
HP:0001574	Abnormality of the integument	6809	STX3	ORPHA:2290
HP:0001574	Abnormality of the integument	4645	MYO5B	ORPHA:2290
HP:0001574	Abnormality of the integument	4645	MYO5B	OMIM:619868
HP:0001574	Abnormality of the integument	5156	PDGFRA	OMIM:607685
HP:0001574	Abnormality of the integument	2057	EPOR	ORPHA:90042
HP:0001574	Abnormality of the integument	1776	DNASE1L3	ORPHA:36412
HP:0001574	Abnormality of the integument	80270	HSD3B7	ORPHA:79301
HP:0001574	Abnormality of the integument	5314	PKHD1	ORPHA:53035
HP:0001574	Abnormality of the integument	7512	XPNPEP2	ORPHA:100057
HP:0001574	Abnormality of the integument	10999	SLC27A4	OMIM:608649
HP:0001574	Abnormality of the integument	84936	ZFYVE19	OMIM:619849
HP:0001574	Abnormality of the integument	5774	PTPN3	ORPHA:70567
HP:0001574	Abnormality of the integument	6098	ROS1	ORPHA:70567
HP:0001574	Abnormality of the integument	8647	ABCB11	OMIM:601847
HP:0001574	Abnormality of the integument	8647	ABCB11	OMIM:605479
HP:0001574	Abnormality of the integument	8647	ABCB11	ORPHA:69665
HP:0001574	Abnormality of the integument	51473	DCDC2	OMIM:617394
HP:0001574	Abnormality of the integument	2859	GPR35	ORPHA:171
HP:0001574	Abnormality of the integument	10507	SEMA4D	ORPHA:171
HP:0001574	Abnormality of the integument	4485	MST1	ORPHA:171
HP:0001574	Abnormality of the integument	6925	TCF4	ORPHA:171
HP:0001574	Abnormality of the integument	114548	NLRP3	ORPHA:47045
HP:0001574	Abnormality of the integument	11280	SCN11A	ORPHA:90026
HP:0001574	Abnormality of the integument	11280	SCN11A	OMIM:615548
HP:0001574	Abnormality of the integument	6336	SCN10A	ORPHA:90026
HP:0001574	Abnormality of the integument	5244	ABCB4	OMIM:614972
HP:0001574	Abnormality of the integument	5244	ABCB4	OMIM:602347
HP:0001574	Abnormality of the integument	5244	ABCB4	ORPHA:69665
HP:0001574	Abnormality of the integument	63894	VIPAS39	OMIM:613404
HP:0001574	Abnormality of the integument	2313	FLI1	ORPHA:370348
HP:0001574	Abnormality of the integument	57003	CCDC47	OMIM:618268
HP:0001574	Abnormality of the integument	8482	SEMA7A	OMIM:619874
HP:0001574	Abnormality of the integument	11012	KLK11	OMIM:620507
HP:0001574	Abnormality of the integument	540	ATP7B	ORPHA:905
HP:0001574	Abnormality of the integument	5336	PLCG2	OMIM:614468
HP:0001574	Abnormality of the integument	5205	ATP8B1	OMIM:211600
HP:0001574	Abnormality of the integument	5205	ATP8B1	ORPHA:69665
HP:0001574	Abnormality of the integument	5205	ATP8B1	OMIM:243300
HP:0001574	Abnormality of the integument	5205	ATP8B1	OMIM:147480
HP:0001574	Abnormality of the integument	3594	IL12RB1	ORPHA:186
HP:0001574	Abnormality of the integument	23534	TNPO3	ORPHA:186
HP:0001574	Abnormality of the integument	6689	SPIB	ORPHA:186
HP:0001574	Abnormality of the integument	5450	POU2AF1	ORPHA:186
HP:0001574	Abnormality of the integument	9966	TNFSF15	ORPHA:186
HP:0001574	Abnormality of the integument	79258	MMEL1	ORPHA:186
HP:0001574	Abnormality of the integument	9971	NR1H4	ORPHA:69665
HP:0001574	Abnormality of the integument	10654	PMVK	ORPHA:735
HP:0001574	Abnormality of the integument	9414	TJP2	OMIM:607748
HP:0001574	Abnormality of the integument	9968	MED12	OMIM:301068
HP:0001574	Abnormality of the integument	55898	UNC45A	OMIM:619377
HP:0001574	Abnormality of the integument	10848	PPP1R13L	OMIM:620519
HP:0001574	Abnormality of the integument	54532	USP53	OMIM:619658
HP:0001574	Abnormality of the integument	133396	IL31RA	OMIM:613955
HP:0001574	Abnormality of the integument	375056	MIA3	OMIM:619269
HP:0001574	Abnormality of the integument	113220	KIF12	OMIM:619662
HP:0001574	Abnormality of the integument	26276	VPS33B	OMIM:620010
HP:0001574	Abnormality of the integument	3988	LIPA	ORPHA:75234
HP:0001574	Abnormality of the integument	3949	LDLR	ORPHA:391665
HP:0001574	Abnormality of the integument	255738	PCSK9	ORPHA:391665
HP:0001574	Abnormality of the integument	26119	LDLRAP1	ORPHA:391665
HP:0001574	Abnormality of the integument	338	APOB	ORPHA:391665
HP:0001574	Abnormality of the integument	64240	ABCG5	ORPHA:391665
HP:0001574	Abnormality of the integument	64240	ABCG5	ORPHA:2882
HP:0001574	Abnormality of the integument	64241	ABCG8	ORPHA:391665
HP:0001574	Abnormality of the integument	64241	ABCG8	ORPHA:2882
HP:0001574	Abnormality of the integument	2538	G6PC1	OMIM:232200
HP:0001574	Abnormality of the integument	5468	PPARG	ORPHA:79083
HP:0001574	Abnormality of the integument	2542	SLC37A4	OMIM:232220
HP:0001574	Abnormality of the integument	2542	SLC37A4	OMIM:232240
HP:0001574	Abnormality of the integument	6609	SMPD1	OMIM:257200
HP:0001574	Abnormality of the integument	335	APOA1	ORPHA:425
HP:0001574	Abnormality of the integument	7518	XRCC4	ORPHA:99812
HP:0001574	Abnormality of the integument	144165	PRICKLE1	ORPHA:308
HP:0001574	Abnormality of the integument	950	SCARB2	ORPHA:308
HP:0001574	Abnormality of the integument	5111	PCNA	OMIM:615919
HP:0001574	Abnormality of the integument	5111	PCNA	ORPHA:438134
HP:0001574	Abnormality of the integument	100033413	SNORD116-1	OMIM:176270
HP:0001574	Abnormality of the integument	8924	HERC2	OMIM:176270
HP:0001574	Abnormality of the integument	23742	NPAP1	OMIM:176270
HP:0001574	Abnormality of the integument	338433	SNORD115-1	OMIM:176270
HP:0001574	Abnormality of the integument	7681	MKRN3	OMIM:176270
HP:0001574	Abnormality of the integument	145624	PWAR1	OMIM:176270
HP:0001574	Abnormality of the integument	3653	IPW	OMIM:176270
HP:0001574	Abnormality of the integument	791114	PWRN1	OMIM:176270
HP:0001574	Abnormality of the integument	6096	RORB	OMIM:618357
HP:0001574	Abnormality of the integument	1536	CYBB	ORPHA:379
HP:0001574	Abnormality of the integument	4688	NCF2	ORPHA:379
HP:0001574	Abnormality of the integument	1535	CYBA	ORPHA:379
HP:0001574	Abnormality of the integument	4689	NCF4	ORPHA:379
HP:0001574	Abnormality of the integument	79415	CYBC1	ORPHA:379
HP:0001574	Abnormality of the integument	2215	FCGR3B	ORPHA:536
HP:0001574	Abnormality of the integument	3684	ITGAM	ORPHA:536
HP:0001574	Abnormality of the integument	221895	JAZF1	ORPHA:536
HP:0001574	Abnormality of the integument	640	BLK	ORPHA:536
HP:0001574	Abnormality of the integument	55024	BANK1	ORPHA:536
HP:0001574	Abnormality of the integument	3500	IGHG1	ORPHA:536
HP:0001574	Abnormality of the integument	1380	CR2	ORPHA:536
HP:0001574	Abnormality of the integument	5133	PDCD1	ORPHA:536
HP:0001574	Abnormality of the integument	2113	ETS1	ORPHA:536
HP:0001574	Abnormality of the integument	2213	FCGR2B	ORPHA:536
HP:0001574	Abnormality of the integument	2213	FCGR2B	OMIM:152700
HP:0001574	Abnormality of the integument	10318	TNIP1	ORPHA:536
HP:0001574	Abnormality of the integument	7332	UBE2L3	ORPHA:536
HP:0001574	Abnormality of the integument	4204	MECP2	ORPHA:536
HP:0001574	Abnormality of the integument	721	C4B	ORPHA:536
HP:0001574	Abnormality of the integument	1773	DNASE1	ORPHA:536
HP:0001574	Abnormality of the integument	1773	DNASE1	OMIM:152700
HP:0001574	Abnormality of the integument	51284	TLR7	ORPHA:536
HP:0001574	Abnormality of the integument	54899	PXK	ORPHA:536
HP:0001574	Abnormality of the integument	7128	TNFAIP3	ORPHA:536
HP:0001574	Abnormality of the integument	8831	SYNGAP1	ORPHA:544254
HP:0001574	Abnormality of the integument	2067	ERCC1	ORPHA:1466
HP:0001574	Abnormality of the integument	10845	CLPX	OMIM:618015
HP:0001574	Abnormality of the integument	1656	DDX6	OMIM:618653
HP:0001574	Abnormality of the integument	375748	ERCC6L2	OMIM:615715
HP:0001574	Abnormality of the integument	7957	EPM2A	OMIM:254780
HP:0001574	Abnormality of the integument	1139	CHRNA7	ORPHA:199318
HP:0001574	Abnormality of the integument	3257	HPS1	OMIM:203300
HP:0001574	Abnormality of the integument	4982	TNFRSF11B	ORPHA:2801
HP:0001574	Abnormality of the integument	8792	TNFRSF11A	ORPHA:2801
HP:0001574	Abnormality of the integument	63915	BLOC1S5	OMIM:619172
HP:0001574	Abnormality of the integument	4784	NFIX	OMIM:602535
HP:0001574	Abnormality of the integument	2077	ERF	ORPHA:207
HP:0001574	Abnormality of the integument	7703	PCGF2	OMIM:618371
HP:0001574	Abnormality of the integument	6874	TAF4	OMIM:620450
HP:0001574	Abnormality of the integument	91949	COG7	OMIM:608779
HP:0001574	Abnormality of the integument	128869	PIGU	OMIM:618590
HP:0001574	Abnormality of the integument	55967	NDUFA12	OMIM:618244
HP:0001574	Abnormality of the integument	57231	SNX14	OMIM:616354
HP:0001574	Abnormality of the integument	51729	WBP11	OMIM:619227
HP:0001574	Abnormality of the integument	22931	RAB18	OMIM:614222
HP:0001574	Abnormality of the integument	150468	CKAP2L	OMIM:272440
HP:0001574	Abnormality of the integument	10555	AGPAT2	ORPHA:528
HP:0001574	Abnormality of the integument	284119	CAVIN1	ORPHA:528
HP:0001574	Abnormality of the integument	26580	BSCL2	ORPHA:528
HP:0001574	Abnormality of the integument	2353	FOS	ORPHA:528
HP:0001574	Abnormality of the integument	11011	TLK2	OMIM:618050
HP:0001574	Abnormality of the integument	116150	NUS1	OMIM:617082
HP:0001574	Abnormality of the integument	137492	VPS37A	OMIM:614898
HP:0001574	Abnormality of the integument	11285	B4GALT7	ORPHA:75496
HP:0001574	Abnormality of the integument	157680	VPS13B	ORPHA:193
HP:0001574	Abnormality of the integument	3425	IDUA	ORPHA:93473
HP:0001574	Abnormality of the integument	5627	PROS1	ORPHA:743
HP:0001574	Abnormality of the integument	5624	PROC	ORPHA:745
HP:0001574	Abnormality of the integument	2316	FLNA	OMIM:300244
HP:0001574	Abnormality of the integument	2175	FANCA	OMIM:227650
HP:0001574	Abnormality of the integument	2175	FANCA	ORPHA:84
HP:0001574	Abnormality of the integument	1654	DDX3X	ORPHA:457260
HP:0001574	Abnormality of the integument	55135	WRAP53	OMIM:613988
HP:0001574	Abnormality of the integument	2177	FANCD2	OMIM:227646
HP:0001574	Abnormality of the integument	2177	FANCD2	ORPHA:84
HP:0001574	Abnormality of the integument	10484	SEC23A	ORPHA:50814
HP:0001574	Abnormality of the integument	215	ABCD1	ORPHA:139399
HP:0001574	Abnormality of the integument	672	BRCA1	ORPHA:84
HP:0001574	Abnormality of the integument	10459	MAD2L2	ORPHA:84
HP:0001574	Abnormality of the integument	7516	XRCC2	ORPHA:84
HP:0001574	Abnormality of the integument	29089	UBE2T	ORPHA:84
HP:0001574	Abnormality of the integument	55120	FANCL	ORPHA:84
HP:0001574	Abnormality of the integument	2187	FANCB	ORPHA:84
HP:0001574	Abnormality of the integument	2176	FANCC	ORPHA:84
HP:0001574	Abnormality of the integument	2178	FANCE	ORPHA:84
HP:0001574	Abnormality of the integument	2188	FANCF	ORPHA:84
HP:0001574	Abnormality of the integument	2189	FANCG	ORPHA:84
HP:0001574	Abnormality of the integument	5888	RAD51	ORPHA:84
HP:0001574	Abnormality of the integument	5889	RAD51C	ORPHA:84
HP:0001574	Abnormality of the integument	55159	RFWD3	ORPHA:84
HP:0001574	Abnormality of the integument	83990	BRIP1	ORPHA:84
HP:0001574	Abnormality of the integument	57697	FANCM	ORPHA:84
HP:0001574	Abnormality of the integument	79728	PALB2	ORPHA:84
HP:0001574	Abnormality of the integument	55215	FANCI	ORPHA:84
HP:0001574	Abnormality of the integument	28234	SLCO1B3	OMIM:237450
HP:0001574	Abnormality of the integument	10599	SLCO1B1	OMIM:237450
HP:0001574	Abnormality of the integument	3691	ITGB4	ORPHA:79402
HP:0001574	Abnormality of the integument	9184	BUB3	ORPHA:1052
HP:0001574	Abnormality of the integument	699	BUB1	ORPHA:1052
HP:0001574	Abnormality of the integument	9702	CEP57	ORPHA:1052
HP:0001574	Abnormality of the integument	9319	TRIP13	ORPHA:1052
HP:0001574	Abnormality of the integument	701	BUB1B	ORPHA:1052
HP:0001574	Abnormality of the integument	5073	PARN	OMIM:616353
HP:0001574	Abnormality of the integument	85378	TUBGCP6	OMIM:251270
HP:0001574	Abnormality of the integument	7189	TRAF6	ORPHA:1810
HP:0001574	Abnormality of the integument	126695	KDF1	ORPHA:1810
HP:0001574	Abnormality of the integument	124997	WDR81	OMIM:610185
HP:0001574	Abnormality of the integument	6650	CAPN15	OMIM:619318
HP:0001574	Abnormality of the integument	5447	POR	ORPHA:95699
HP:0001574	Abnormality of the integument	55593	OTUD5	OMIM:301056
HP:0001574	Abnormality of the integument	2530	FUT8	OMIM:618005
HP:0001574	Abnormality of the integument	1020	CDK5	OMIM:616342
HP:0001574	Abnormality of the integument	7965	AIMP2	OMIM:618006
HP:0001574	Abnormality of the integument	79140	CCDC28B	OMIM:209900
HP:0001574	Abnormality of the integument	11145	PLAAT3	OMIM:620683
HP:0001574	Abnormality of the integument	128637	TBC1D20	OMIM:615663
HP:0001574	Abnormality of the integument	4214	MAP3K1	OMIM:613762
HP:0001574	Abnormality of the integument	1267	CNP	OMIM:619071
HP:0001574	Abnormality of the integument	80232	WDR26	OMIM:617616
HP:0001574	Abnormality of the integument	6134	RPL10	ORPHA:459070
HP:0001574	Abnormality of the integument	10236	HNRNPR	OMIM:620073
HP:0001574	Abnormality of the integument	57477	SHROOM4	ORPHA:85288
HP:0001574	Abnormality of the integument	1315	COPB1	OMIM:619255
HP:0001574	Abnormality of the integument	84823	LMNB2	OMIM:608709
HP:0001574	Abnormality of the integument	11284	PNKP	ORPHA:459033
HP:0001574	Abnormality of the integument	1729	DIAPH1	ORPHA:2573
HP:0001574	Abnormality of the integument	57674	RNF213	ORPHA:2573
HP:0001574	Abnormality of the integument	2658	GDF2	ORPHA:774
HP:0001574	Abnormality of the integument	2658	GDF2	OMIM:615506
HP:0001574	Abnormality of the integument	4361	MRE11	OMIM:604391
HP:0001574	Abnormality of the integument	659	BMPR2	OMIM:178600
HP:0001574	Abnormality of the integument	875	CBS	ORPHA:394
HP:0001574	Abnormality of the integument	875	CBS	OMIM:236200
HP:0001574	Abnormality of the integument	5122	PCSK1	ORPHA:71528
HP:0001574	Abnormality of the integument	5443	POMC	ORPHA:71526
HP:0001574	Abnormality of the integument	1638	DCT	OMIM:619165
HP:0001574	Abnormality of the integument	6492	SIM1	ORPHA:398079
HP:0001574	Abnormality of the integument	28960	DCPS	OMIM:616459
HP:0001574	Abnormality of the integument	1130	LYST	OMIM:214500
HP:0001574	Abnormality of the integument	1130	LYST	ORPHA:167
HP:0001574	Abnormality of the integument	7337	UBE3A	ORPHA:98794
HP:0001574	Abnormality of the integument	7337	UBE3A	ORPHA:98795
HP:0001574	Abnormality of the integument	7337	UBE3A	OMIM:105830
HP:0001574	Abnormality of the integument	7337	UBE3A	ORPHA:411511
HP:0001574	Abnormality of the integument	7337	UBE3A	ORPHA:411515
HP:0001574	Abnormality of the integument	4692	NDN	ORPHA:177904
HP:0001574	Abnormality of the integument	4692	NDN	ORPHA:177901
HP:0001574	Abnormality of the integument	4692	NDN	ORPHA:177910
HP:0001574	Abnormality of the integument	4692	NDN	ORPHA:98754
HP:0001574	Abnormality of the integument	54551	MAGEL2	ORPHA:177904
HP:0001574	Abnormality of the integument	54551	MAGEL2	ORPHA:177901
HP:0001574	Abnormality of the integument	54551	MAGEL2	ORPHA:398069
HP:0001574	Abnormality of the integument	54551	MAGEL2	ORPHA:177910
HP:0001574	Abnormality of the integument	54551	MAGEL2	ORPHA:98754
HP:0001574	Abnormality of the integument	114034	TOE1	OMIM:614969
HP:0001574	Abnormality of the integument	26258	BLOC1S6	OMIM:614171
HP:0001574	Abnormality of the integument	4644	MYO5A	ORPHA:33445
HP:0001574	Abnormality of the integument	4644	MYO5A	OMIM:214450
HP:0001574	Abnormality of the integument	84343	HPS3	OMIM:614072
HP:0001574	Abnormality of the integument	79803	HPS6	OMIM:614075
HP:0001574	Abnormality of the integument	55717	WDR11	OMIM:620237
HP:0001574	Abnormality of the integument	28956	LAMTOR2	OMIM:610798
HP:0001574	Abnormality of the integument	57724	EPG5	OMIM:242840
HP:0001574	Abnormality of the integument	57724	EPG5	ORPHA:1493
HP:0001574	Abnormality of the integument	7030	TFE3	OMIM:301066
HP:0001574	Abnormality of the integument	5873	RAB27A	OMIM:607624
HP:0001574	Abnormality of the integument	26503	SLC17A5	OMIM:269920
HP:0001574	Abnormality of the integument	3991	LIPE	OMIM:615980
HP:0001574	Abnormality of the integument	4254	KITLG	OMIM:619947
HP:0001574	Abnormality of the integument	57194	ATP10A	ORPHA:411515
HP:0001574	Abnormality of the integument	7306	TYRP1	ORPHA:79433
HP:0001574	Abnormality of the integument	344	APOC2	OMIM:207750
HP:0001574	Abnormality of the integument	3990	LIPC	OMIM:614025
HP:0001574	Abnormality of the integument	3990	LIPC	ORPHA:140905
HP:0001574	Abnormality of the integument	338328	GPIHBP1	OMIM:615947
HP:0001574	Abnormality of the integument	4126	MANBA	OMIM:248510
HP:0001574	Abnormality of the integument	164656	TMPRSS6	ORPHA:209981
HP:0001574	Abnormality of the integument	4613	MYCN	ORPHA:635
HP:0001574	Abnormality of the integument	389421	LIN28B	ORPHA:635
HP:0001574	Abnormality of the integument	4004	LMO1	ORPHA:635
HP:0001574	Abnormality of the integument	57531	HACE1	ORPHA:635
HP:0001574	Abnormality of the integument	2137	EXTL3	OMIM:617425
HP:0001574	Abnormality of the integument	57609	DIP2B	OMIM:136630
HP:0001574	Abnormality of the integument	915	CD3D	ORPHA:169160
HP:0001574	Abnormality of the integument	916	CD3E	ORPHA:169160
HP:0001574	Abnormality of the integument	919	CD247	ORPHA:169160
HP:0001574	Abnormality of the integument	919	CD247	OMIM:610163
HP:0001574	Abnormality of the integument	83938	LRMDA	OMIM:615179
HP:0001574	Abnormality of the integument	89781	HPS4	OMIM:614073
HP:0001574	Abnormality of the integument	11234	HPS5	OMIM:614074
HP:0001574	Abnormality of the integument	84062	DTNBP1	OMIM:614076
HP:0001574	Abnormality of the integument	249	ALPL	OMIM:241500
HP:0001574	Abnormality of the integument	249	ALPL	OMIM:241510
HP:0001574	Abnormality of the integument	710	SERPING1	ORPHA:100050
HP:0001574	Abnormality of the integument	1369	CPN1	OMIM:212070
HP:0001574	Abnormality of the integument	81846	SBF2	ORPHA:99956
HP:0001574	Abnormality of the integument	10367	MICU1	OMIM:615673
HP:0001574	Abnormality of the integument	1763	DNA2	OMIM:620819
HP:0001574	Abnormality of the integument	55699	IARS2	OMIM:616007
HP:0001574	Abnormality of the integument	79650	USB1	OMIM:604173
HP:0001574	Abnormality of the integument	10651	MTX2	OMIM:619127
HP:0001574	Abnormality of the integument	374393	FAM111B	OMIM:615704
HP:0001574	Abnormality of the integument	84946	LTV1	OMIM:620199
HP:0001574	Abnormality of the integument	716	C1S	OMIM:617174
HP:0001574	Abnormality of the integument	113189	CHST14	OMIM:601776
HP:0001574	Abnormality of the integument	4221	MEN1	OMIM:131100
HP:0001574	Abnormality of the integument	2260	FGFR1	OMIM:613001
HP:0001574	Abnormality of the integument	657	BMPR1A	ORPHA:79076
HP:0001574	Abnormality of the integument	1027	CDKN1B	ORPHA:276152
HP:0001574	Abnormality of the integument	217	ALDH2	OMIM:610251
HP:0001574	Abnormality of the integument	23141	ANKLE2	OMIM:616681
HP:0001574	Abnormality of the integument	112858	TP53RK	OMIM:617730
HP:0001574	Abnormality of the integument	23135	KDM6B	OMIM:618505
HP:0001574	Abnormality of the integument	8869	ST3GAL5	OMIM:609056
HP:0001574	Abnormality of the integument	79651	RHBDF2	OMIM:148500
HP:0001574	Abnormality of the integument	116519	APOA5	OMIM:145750
HP:0001574	Abnormality of the integument	4558	MT-TF	ORPHA:550
HP:0001574	Abnormality of the integument	4572	MT-TQ	ORPHA:550
HP:0001574	Abnormality of the integument	4512	MT-CO1	ORPHA:550
HP:0001574	Abnormality of the integument	4513	MT-CO2	ORPHA:550
HP:0001574	Abnormality of the integument	4514	MT-CO3	ORPHA:550
HP:0001574	Abnormality of the integument	4578	MT-TW	ORPHA:550
HP:0001574	Abnormality of the integument	4540	MT-ND5	ORPHA:550
HP:0001574	Abnormality of the integument	4541	MT-ND6	ORPHA:550
HP:0001574	Abnormality of the integument	4535	MT-ND1	ORPHA:550
HP:0001574	Abnormality of the integument	4538	MT-ND4	ORPHA:550
HP:0001574	Abnormality of the integument	4567	MT-TL1	ORPHA:550
HP:0001574	Abnormality of the integument	4574	MT-TS1	ORPHA:550
HP:0001574	Abnormality of the integument	4575	MT-TS2	ORPHA:550
HP:0001574	Abnormality of the integument	4564	MT-TH	ORPHA:550
HP:0001574	Abnormality of the integument	54	ACP5	OMIM:607944
HP:0001574	Abnormality of the integument	54	ACP5	ORPHA:1855
HP:0001574	Abnormality of the integument	847	CAT	ORPHA:926
HP:0001574	Abnormality of the integument	987	LRBA	OMIM:614700
HP:0001574	Abnormality of the integument	23126	POGZ	ORPHA:468678
HP:0001574	Abnormality of the integument	25778	DSTYK	ORPHA:101003
HP:0001574	Abnormality of the integument	25778	DSTYK	OMIM:270750
HP:0001574	Abnormality of the integument	27022	FOXD3	OMIM:607836
HP:0001574	Abnormality of the integument	28755	TRAC	OMIM:615387
HP:0001574	Abnormality of the integument	56259	CTNNBL1	OMIM:619846
HP:0001574	Abnormality of the integument	868	CBLB	OMIM:620430
HP:0001574	Abnormality of the integument	23065	EMC1	ORPHA:480898
HP:0001574	Abnormality of the integument	2615	LRRC32	OMIM:619074
HP:0001574	Abnormality of the integument	3735	KARS1	ORPHA:3240
HP:0001574	Abnormality of the integument	84433	CARD11	OMIM:617638
HP:0001574	Abnormality of the integument	23102	TBC1D2B	ORPHA:397973
HP:0001574	Abnormality of the integument	22880	MORC2	ORPHA:466768
HP:0001574	Abnormality of the integument	3716	JAK1	OMIM:618999
HP:0001574	Abnormality of the integument	9939	RBM8A	OMIM:274000
HP:0001574	Abnormality of the integument	7086	TKT	ORPHA:488618
HP:0001574	Abnormality of the integument	80267	EDEM3	OMIM:619493
HP:0001574	Abnormality of the integument	3784	KCNQ1	OMIM:130650
HP:0001574	Abnormality of the integument	10984	KCNQ1OT1	OMIM:130650
HP:0001574	Abnormality of the integument	4591	TRIM37	OMIM:253250
HP:0001574	Abnormality of the integument	171546	SPTSSA	OMIM:620416
HP:0001574	Abnormality of the integument	57167	SALL4	ORPHA:233
HP:0001574	Abnormality of the integument	9935	MAFB	ORPHA:233
HP:0001574	Abnormality of the integument	1123	CHN1	ORPHA:233
HP:0001574	Abnormality of the integument	695	BTK	ORPHA:47
HP:0001574	Abnormality of the integument	2581	GALC	ORPHA:206436
HP:0001574	Abnormality of the integument	5660	PSAP	ORPHA:206436
HP:0001574	Abnormality of the integument	1312	COMT	ORPHA:567
HP:0001574	Abnormality of the integument	221037	JMJD1C	ORPHA:567
HP:0001574	Abnormality of the integument	2812	GP1BB	ORPHA:567
HP:0001574	Abnormality of the integument	6239	RREB1	ORPHA:567
HP:0001574	Abnormality of the integument	6899	TBX1	ORPHA:567
HP:0001574	Abnormality of the integument	7290	HIRA	ORPHA:567
HP:0001574	Abnormality of the integument	9632	SEC24C	ORPHA:567
HP:0001574	Abnormality of the integument	7353	UFD1	ORPHA:567
HP:0001574	Abnormality of the integument	421	ARVCF	ORPHA:567
HP:0001574	Abnormality of the integument	2475	MTOR	ORPHA:457485
HP:0001574	Abnormality of the integument	220296	HEPACAM	ORPHA:210548
HP:0001574	Abnormality of the integument	9508	ADAMTS3	ORPHA:2136
HP:0001574	Abnormality of the integument	147372	CCBE1	ORPHA:2136
HP:0001574	Abnormality of the integument	147372	CCBE1	OMIM:235510
HP:0001574	Abnormality of the integument	79633	FAT4	ORPHA:2136
HP:0001574	Abnormality of the integument	2165	F13B	ORPHA:331
HP:0001574	Abnormality of the integument	2162	F13A1	ORPHA:331
HP:0001574	Abnormality of the integument	5880	RAC2	ORPHA:183707
HP:0001574	Abnormality of the integument	5880	RAC2	OMIM:608203
HP:0001574	Abnormality of the integument	3689	ITGB2	OMIM:116920
HP:0001574	Abnormality of the integument	2157	F8	ORPHA:169802
HP:0001574	Abnormality of the integument	10092	ARPC5	OMIM:620565
HP:0001574	Abnormality of the integument	29940	DSE	OMIM:615539
HP:0001574	Abnormality of the integument	5054	SERPINE1	ORPHA:465
HP:0001574	Abnormality of the integument	633	BGN	OMIM:300989
HP:0001574	Abnormality of the integument	4921	DDR2	OMIM:618175
HP:0001574	Abnormality of the integument	3075	CFH	ORPHA:244242
HP:0001574	Abnormality of the integument	3426	CFI	ORPHA:244242
HP:0001574	Abnormality of the integument	4179	CD46	ORPHA:244242
HP:0001574	Abnormality of the integument	101101692	HELLPAR	ORPHA:244242
HP:0001574	Abnormality of the integument	9731	CEP104	OMIM:619988
HP:0001574	Abnormality of the integument	55605	KIF21A	ORPHA:994
HP:0001574	Abnormality of the integument	4927	NUP88	ORPHA:994
HP:0001574	Abnormality of the integument	7846	TUBA1A	ORPHA:994
HP:0001574	Abnormality of the integument	4654	MYOD1	ORPHA:994
HP:0001574	Abnormality of the integument	4593	MUSK	ORPHA:994
HP:0001574	Abnormality of the integument	5913	RAPSN	ORPHA:994
HP:0001574	Abnormality of the integument	6572	SLC18A3	ORPHA:994
HP:0001574	Abnormality of the integument	285489	DOK7	ORPHA:994
HP:0001574	Abnormality of the integument	5352	PLOD2	ORPHA:2771
HP:0001574	Abnormality of the integument	5352	PLOD2	OMIM:609220
HP:0001574	Abnormality of the integument	57538	ALPK3	OMIM:618052
HP:0001574	Abnormality of the integument	55640	FLVCR2	OMIM:225790
HP:0001574	Abnormality of the integument	10082	GPC6	ORPHA:93329
HP:0001574	Abnormality of the integument	57211	ADGRG6	OMIM:616503
HP:0001574	Abnormality of the integument	9563	H6PD	OMIM:604931
HP:0001574	Abnormality of the integument	331	XIAP	OMIM:300635
HP:0001574	Abnormality of the integument	54361	WNT4	ORPHA:247768
HP:0001574	Abnormality of the integument	54361	WNT4	OMIM:158330
HP:0001574	Abnormality of the integument	9060	PAPSS2	OMIM:612847
HP:0001574	Abnormality of the integument	2099	ESR1	ORPHA:785
HP:0001574	Abnormality of the integument	2099	ESR1	OMIM:615363
HP:0001574	Abnormality of the integument	79798	ARMC5	ORPHA:189427
HP:0001574	Abnormality of the integument	23028	KDM1A	ORPHA:189427
HP:0001574	Abnormality of the integument	4212	MEIS2	ORPHA:261190
HP:0001574	Abnormality of the integument	23474	ETHE1	ORPHA:51188
HP:0001574	Abnormality of the integument	23474	ETHE1	OMIM:602473
HP:0001574	Abnormality of the integument	729238	SFTPA2	ORPHA:2032
HP:0001574	Abnormality of the integument	653509	SFTPA1	ORPHA:2032
HP:0001574	Abnormality of the integument	727897	MUC5B	ORPHA:2032
HP:0001574	Abnormality of the integument	10144	FAM13A	ORPHA:2032
HP:0001574	Abnormality of the integument	23250	ATP11A	ORPHA:2032
HP:0001574	Abnormality of the integument	51117	COQ4	OMIM:616276
HP:0001574	Abnormality of the integument	2395	FXN	ORPHA:95
HP:0001574	Abnormality of the integument	4015	LOX	OMIM:617168
HP:0001574	Abnormality of the integument	1742	DLG4	OMIM:618793
HP:0001574	Abnormality of the integument	4763	NF1	OMIM:601321
HP:0001574	Abnormality of the integument	4763	NF1	OMIM:162200
HP:0001574	Abnormality of the integument	4763	NF1	OMIM:162210
HP:0001574	Abnormality of the integument	4763	NF1	OMIM:193520
HP:0001574	Abnormality of the integument	161742	SPRED1	OMIM:611431
HP:0001574	Abnormality of the integument	161742	SPRED1	ORPHA:137605
HP:0001574	Abnormality of the integument	229	ALDOB	ORPHA:469
HP:0001574	Abnormality of the integument	50506	DUOX2	ORPHA:226316
HP:0001574	Abnormality of the integument	1798	DPAGT1	ORPHA:86309
HP:0001574	Abnormality of the integument	2200	FBN1	OMIM:614185
HP:0001574	Abnormality of the integument	2200	FBN1	OMIM:608328
HP:0001574	Abnormality of the integument	2200	FBN1	ORPHA:2833
HP:0001574	Abnormality of the integument	2200	FBN1	ORPHA:3449
HP:0001574	Abnormality of the integument	2200	FBN1	OMIM:102370
HP:0001574	Abnormality of the integument	285590	SH3PXD2B	ORPHA:137834
HP:0001574	Abnormality of the integument	9719	ADAMTSL2	OMIM:231050
HP:0001574	Abnormality of the integument	411	ARSB	OMIM:253200
HP:0001574	Abnormality of the integument	4089	SMAD4	OMIM:139210
HP:0001574	Abnormality of the integument	4089	SMAD4	ORPHA:2588
HP:0001574	Abnormality of the integument	65082	VPS33A	OMIM:617303
HP:0001574	Abnormality of the integument	65082	VPS33A	ORPHA:505248
HP:0001574	Abnormality of the integument	2720	GLB1	ORPHA:79255
HP:0001574	Abnormality of the integument	1893	ECM1	ORPHA:530
HP:0001574	Abnormality of the integument	1893	ECM1	OMIM:247100
HP:0001574	Abnormality of the integument	79158	GNPTAB	ORPHA:576
HP:0001574	Abnormality of the integument	79158	GNPTAB	ORPHA:423461
HP:0001574	Abnormality of the integument	79158	GNPTAB	OMIM:252600
HP:0001574	Abnormality of the integument	170691	ADAMTS17	ORPHA:3449
HP:0001574	Abnormality of the integument	81794	ADAMTS10	ORPHA:3449
HP:0001574	Abnormality of the integument	81794	ADAMTS10	OMIM:277600
HP:0001574	Abnormality of the integument	5297	PI4KA	ORPHA:436252
HP:0001574	Abnormality of the integument	57217	TTC7A	ORPHA:436252
HP:0001574	Abnormality of the integument	51574	LARP7	ORPHA:319671
HP:0001574	Abnormality of the integument	83550	GPR101	ORPHA:963
HP:0001574	Abnormality of the integument	4313	MMP2	OMIM:259600
HP:0001574	Abnormality of the integument	7389	UROD	ORPHA:95159
HP:0001574	Abnormality of the integument	203068	TUBB	ORPHA:2505
HP:0001574	Abnormality of the integument	10982	MAPRE2	ORPHA:2505
HP:0001574	Abnormality of the integument	5498	PPOX	ORPHA:79473
HP:0001574	Abnormality of the integument	4054	LTBP3	OMIM:617809
HP:0001574	Abnormality of the integument	336	APOA2	OMIM:143890
HP:0001574	Abnormality of the integument	2053	EPHX2	OMIM:143890
HP:0001574	Abnormality of the integument	10842	PPP1R17	OMIM:143890
HP:0001574	Abnormality of the integument	7274	TTPA	OMIM:277460
HP:0001574	Abnormality of the integument	54892	NCAPG2	OMIM:618460
HP:0001574	Abnormality of the integument	5063	PAK3	OMIM:300558
HP:0001574	Abnormality of the integument	11133	KPTN	OMIM:615637
HP:0001574	Abnormality of the integument	116931	MED12L	OMIM:618872
HP:0001574	Abnormality of the integument	7025	NR2F1	OMIM:615722
HP:0001574	Abnormality of the integument	1822	ATN1	OMIM:618494
HP:0001574	Abnormality of the integument	6804	STX1A	ORPHA:904
HP:0001574	Abnormality of the integument	7461	CLIP2	ORPHA:904
HP:0001574	Abnormality of the integument	84277	DNAJC30	ORPHA:904
HP:0001574	Abnormality of the integument	8468	FKBP6	ORPHA:904
HP:0001574	Abnormality of the integument	5982	RFC2	ORPHA:904
HP:0001574	Abnormality of the integument	2969	GTF2I	ORPHA:904
HP:0001574	Abnormality of the integument	3984	LIMK1	ORPHA:904
HP:0001574	Abnormality of the integument	9569	GTF2IRD1	ORPHA:904
HP:0001574	Abnormality of the integument	155382	VPS37D	ORPHA:904
HP:0001574	Abnormality of the integument	155368	METTL27	ORPHA:904
HP:0001574	Abnormality of the integument	114049	BUD23	ORPHA:904
HP:0001574	Abnormality of the integument	7458	EIF4H	ORPHA:904
HP:0001574	Abnormality of the integument	84163	GTF2IRD2	ORPHA:904
HP:0001574	Abnormality of the integument	26608	TBL2	ORPHA:904
HP:0001574	Abnormality of the integument	653361	NCF1	ORPHA:904
HP:0001574	Abnormality of the integument	135886	TMEM270	ORPHA:904
HP:0001574	Abnormality of the integument	9031	BAZ1B	ORPHA:904
HP:0001574	Abnormality of the integument	3636	INPPL1	ORPHA:3144
HP:0001574	Abnormality of the integument	23169	SLC35D1	ORPHA:3144
HP:0001574	Abnormality of the integument	526	ATP6V1B2	ORPHA:79500
HP:0001574	Abnormality of the integument	57465	TBC1D24	ORPHA:79500
HP:0001574	Abnormality of the integument	27125	AFF4	ORPHA:444077
HP:0001574	Abnormality of the integument	9555	MACROH2A1	ORPHA:1275
HP:0001574	Abnormality of the integument	5307	PITX1	ORPHA:1275
HP:0001574	Abnormality of the integument	658	BMPR1B	ORPHA:93384
HP:0001574	Abnormality of the integument	326	AIRE	ORPHA:3453
HP:0001574	Abnormality of the integument	57539	WDR35	ORPHA:1515
HP:0001574	Abnormality of the integument	51098	IFT52	ORPHA:1515
HP:0001574	Abnormality of the integument	55764	IFT122	ORPHA:1515
HP:0001574	Abnormality of the integument	6926	TBX3	ORPHA:3138
HP:0001574	Abnormality of the integument	64324	NSD1	ORPHA:3447
HP:0001574	Abnormality of the integument	23512	SUZ12	ORPHA:3447
HP:0001574	Abnormality of the integument	2146	EZH2	ORPHA:3447
HP:0001574	Abnormality of the integument	94	ACVRL1	OMIM:600376
HP:0001574	Abnormality of the integument	2022	ENG	OMIM:187300
HP:0001574	Abnormality of the integument	7994	KAT6A	OMIM:616268
HP:0001574	Abnormality of the integument	10058	ABCB6	ORPHA:241
HP:0001574	Abnormality of the integument	2521	FUS	ORPHA:99967
HP:0001574	Abnormality of the integument	1649	DDIT3	ORPHA:99967
HP:0001574	Abnormality of the integument	567	B2M	OMIM:241600
HP:0001574	Abnormality of the integument	55343	SLC35C1	OMIM:266265
HP:0001574	Abnormality of the integument	6711	SPTBN1	OMIM:619475
HP:0001574	Abnormality of the integument	83706	FERMT3	OMIM:612840
HP:0001574	Abnormality of the integument	3570	IL6R	OMIM:618944
HP:0001574	Abnormality of the integument	10525	HYOU1	OMIM:233600
HP:0001574	Abnormality of the integument	4780	NFE2L2	OMIM:617744
HP:0001574	Abnormality of the integument	4790	NFKB1	OMIM:616576
HP:0001574	Abnormality of the integument	1991	ELANE	ORPHA:2686
HP:0001574	Abnormality of the integument	1991	ELANE	ORPHA:486
HP:0001574	Abnormality of the integument	57591	MRTFA	OMIM:618847
HP:0001574	Abnormality of the integument	2303	FOXC2	ORPHA:33001
HP:0001574	Abnormality of the integument	6728	SRP19	ORPHA:486
HP:0001574	Abnormality of the integument	2672	GFI1	ORPHA:486
HP:0001574	Abnormality of the integument	81570	CLPB	ORPHA:486
HP:0001574	Abnormality of the integument	4153	MBL2	OMIM:614372
HP:0001574	Abnormality of the integument	6778	STAT6	OMIM:620532
HP:0001574	Abnormality of the integument	8883	NAE1	OMIM:620210
HP:0001574	Abnormality of the integument	5308	PITX2	ORPHA:782
HP:0001574	Abnormality of the integument	2296	FOXC1	ORPHA:782
HP:0001574	Abnormality of the integument	6535	SLC6A8	ORPHA:52503
HP:0001574	Abnormality of the integument	26281	FGF20	OMIM:615721
HP:0001574	Abnormality of the integument	2879	GPX4	OMIM:250220
HP:0001574	Abnormality of the integument	59344	ALOXE3	OMIM:242100
HP:0001574	Abnormality of the integument	242	ALOX12B	OMIM:242100
HP:0001574	Abnormality of the integument	2074	ERCC6	OMIM:133540
HP:0001574	Abnormality of the integument	3858	KRT10	OMIM:607602
HP:0001574	Abnormality of the integument	91754	NEK9	ORPHA:64754
HP:0001574	Abnormality of the integument	79719	AAGAB	OMIM:148600
HP:0001574	Abnormality of the integument	8517	IKBKG	ORPHA:464
HP:0001574	Abnormality of the integument	23630	KCNE5	ORPHA:86818
HP:0001574	Abnormality of the integument	2182	ACSL4	ORPHA:86818
HP:0001574	Abnormality of the integument	9949	AMMECR1	ORPHA:86818
HP:0001574	Abnormality of the integument	3709	ITPR2	OMIM:106190
HP:0001574	Abnormality of the integument	6716	SRD5A2	OMIM:264600
HP:0001574	Abnormality of the integument	1747	DLX3	OMIM:190320
HP:0001574	Abnormality of the integument	3832	KIF11	ORPHA:2526
HP:0001574	Abnormality of the integument	472	ATM	OMIM:208900
HP:0001574	Abnormality of the integument	4286	MITF	ORPHA:618
HP:0001574	Abnormality of the integument	1019	CDK4	ORPHA:618
HP:0001574	Abnormality of the integument	4255	MGMT	ORPHA:618
HP:0001574	Abnormality of the integument	54386	TERF2IP	ORPHA:618
HP:0001574	Abnormality of the integument	4157	MC1R	ORPHA:618
HP:0001574	Abnormality of the integument	65057	ACD	ORPHA:618
HP:0001574	Abnormality of the integument	1029	CDKN2A	ORPHA:618
HP:0001574	Abnormality of the integument	25913	POT1	ORPHA:618
HP:0001574	Abnormality of the integument	1030	CDKN2B	ORPHA:618
HP:0001574	Abnormality of the integument	488	ATP2A2	ORPHA:218
HP:0001574	Abnormality of the integument	10269	ZMPSTE24	ORPHA:90154
HP:0001574	Abnormality of the integument	29957	SLC25A24	ORPHA:2963
HP:0001574	Abnormality of the integument	4942	OAT	ORPHA:414
HP:0001574	Abnormality of the integument	4014	LORICRIN	OMIM:604117
HP:0001574	Abnormality of the integument	5077	PAX3	ORPHA:894
HP:0001574	Abnormality of the integument	3889	KRT83	OMIM:617756
HP:0001574	Abnormality of the integument	6774	STAT3	ORPHA:2314
HP:0001574	Abnormality of the integument	3973	LHCGR	ORPHA:3000
HP:0001574	Abnormality of the integument	92344	GORAB	OMIM:231070
HP:0001574	Abnormality of the integument	4683	NBN	ORPHA:647
HP:0001574	Abnormality of the integument	128178	EDARADD	ORPHA:248
HP:0001574	Abnormality of the integument	80326	WNT10A	ORPHA:248
HP:0001574	Abnormality of the integument	10913	EDAR	ORPHA:248
HP:0001574	Abnormality of the integument	1476	CSTB	ORPHA:248
HP:0001574	Abnormality of the integument	224	ALDH3A2	OMIM:270200
HP:0001574	Abnormality of the integument	1832	DSP	OMIM:612908
HP:0001574	Abnormality of the integument	1832	DSP	ORPHA:50942
HP:0001574	Abnormality of the integument	79644	SRD5A3	ORPHA:324737
HP:0001574	Abnormality of the integument	5566	PRKACA	ORPHA:289
HP:0001574	Abnormality of the integument	5567	PRKACB	ORPHA:289
HP:0001574	Abnormality of the integument	2735	GLI1	ORPHA:289
HP:0001574	Abnormality of the integument	2121	EVC	ORPHA:289
HP:0001574	Abnormality of the integument	51626	DYNC2LI1	ORPHA:289
HP:0001574	Abnormality of the integument	132884	EVC2	ORPHA:289
HP:0001574	Abnormality of the integument	1828	DSG1	ORPHA:50942
HP:0001574	Abnormality of the integument	3848	KRT1	ORPHA:50942
HP:0001574	Abnormality of the integument	3848	KRT1	OMIM:607654
HP:0001574	Abnormality of the integument	54795	TRPM4	OMIM:618531
HP:0001574	Abnormality of the integument	118429	ANTXR2	ORPHA:2028
HP:0001574	Abnormality of the integument	51702	PADI3	ORPHA:1410
HP:0001574	Abnormality of the integument	7053	TGM3	ORPHA:1410
HP:0001574	Abnormality of the integument	80781	COL18A1	ORPHA:1571
HP:0001574	Abnormality of the integument	5062	PAK2	ORPHA:1571
HP:0001574	Abnormality of the integument	6023	RMRP	OMIM:250460
HP:0001574	Abnormality of the integument	11005	SPINK5	ORPHA:634
HP:0001574	Abnormality of the integument	51099	ABHD5	OMIM:275630
HP:0001574	Abnormality of the integument	51099	ABHD5	ORPHA:98907
HP:0001574	Abnormality of the integument	90	ACVR1	OMIM:135100
HP:0001574	Abnormality of the integument	90	ACVR1	ORPHA:337
HP:0001574	Abnormality of the integument	64087	MCCC2	OMIM:210210
HP:0001574	Abnormality of the integument	23312	DMXL2	ORPHA:453533
HP:0001574	Abnormality of the integument	1909	EDNRA	OMIM:616367
HP:0001574	Abnormality of the integument	4256	MGP	ORPHA:85202
HP:0001574	Abnormality of the integument	5654	HTRA1	OMIM:600142
HP:0001574	Abnormality of the integument	78987	CRELD1	OMIM:620771
HP:0001574	Abnormality of the integument	7873	MANF	OMIM:620651
HP:0001574	Abnormality of the integument	8882	ZPR1	OMIM:619321
HP:0001574	Abnormality of the integument	114798	SLITRK1	OMIM:613229
HP:0001574	Abnormality of the integument	5580	PRKCD	OMIM:615559
HP:0001574	Abnormality of the integument	10283	CWC27	OMIM:250410
HP:0001574	Abnormality of the integument	10283	CWC27	ORPHA:166035
HP:0001574	Abnormality of the integument	10273	STUB1	ORPHA:412057
HP:0001574	Abnormality of the integument	5573	PRKAR1A	ORPHA:950
HP:0001574	Abnormality of the integument	5144	PDE4D	ORPHA:950
HP:0001574	Abnormality of the integument	23394	ADNP	ORPHA:404448
HP:0001574	Abnormality of the integument	64840	PORCN	ORPHA:2092
HP:0001574	Abnormality of the integument	1041	CDSN	ORPHA:90368
HP:0001574	Abnormality of the integument	1041	CDSN	OMIM:146520
HP:0001574	Abnormality of the integument	4010	LMX1B	ORPHA:2614
HP:0001574	Abnormality of the integument	846	CASR	ORPHA:428
HP:0001574	Abnormality of the integument	1528	CYB5A	ORPHA:621
HP:0001574	Abnormality of the integument	1727	CYB5R3	ORPHA:621
HP:0001574	Abnormality of the integument	2517	FUCA1	ORPHA:349
HP:0001574	Abnormality of the integument	55806	HR	ORPHA:701
HP:0001574	Abnormality of the integument	79092	CARD14	ORPHA:2897
HP:0001574	Abnormality of the integument	3909	LAMA3	ORPHA:79404
HP:0001574	Abnormality of the integument	3918	LAMC2	ORPHA:79404
HP:0001574	Abnormality of the integument	3918	LAMC2	OMIM:619786
HP:0001574	Abnormality of the integument	55630	SLC39A4	ORPHA:37
HP:0001574	Abnormality of the integument	197131	UBR1	OMIM:243800
HP:0001574	Abnormality of the integument	3106	HLA-B	ORPHA:29207
HP:0001574	Abnormality of the integument	56916	SMARCAD1	ORPHA:384
HP:0001574	Abnormality of the integument	130340	AP1S3	ORPHA:247353
HP:0001574	Abnormality of the integument	26525	IL36RN	ORPHA:247353
HP:0001574	Abnormality of the integument	2263	FGFR2	ORPHA:1555
HP:0001574	Abnormality of the integument	176	ACAN	ORPHA:171866
HP:0001574	Abnormality of the integument	8626	TP63	ORPHA:978
HP:0001574	Abnormality of the integument	147409	DSG4	ORPHA:573
HP:0001574	Abnormality of the integument	3892	KRT86	ORPHA:573
HP:0001574	Abnormality of the integument	3887	KRT81	ORPHA:573
HP:0001574	Abnormality of the integument	3664	IRF6	ORPHA:1300
HP:0001574	Abnormality of the integument	9496	TBX4	OMIM:147891
HP:0001574	Abnormality of the integument	11277	TREX1	OMIM:610448
HP:0001574	Abnormality of the integument	54539	NDUFB11	ORPHA:2556
HP:0001574	Abnormality of the integument	1349	COX7B	ORPHA:2556
HP:0001574	Abnormality of the integument	3052	HCCS	ORPHA:2556
HP:0001574	Abnormality of the integument	3081	HGD	ORPHA:56
HP:0001574	Abnormality of the integument	6768	ST14	OMIM:602400
HP:0001574	Abnormality of the integument	1001	CDH3	OMIM:601553
HP:0001574	Abnormality of the integument	1513	CTSK	ORPHA:763
HP:0001574	Abnormality of the integument	204219	CERS3	ORPHA:79394
HP:0001574	Abnormality of the integument	6820	SULT2B1	ORPHA:79394
HP:0001574	Abnormality of the integument	6820	SULT2B1	ORPHA:313
HP:0001574	Abnormality of the integument	26154	ABCA12	ORPHA:79394
HP:0001574	Abnormality of the integument	26154	ABCA12	ORPHA:313
HP:0001574	Abnormality of the integument	285848	PNPLA1	ORPHA:79394
HP:0001574	Abnormality of the integument	348938	NIPAL4	ORPHA:79394
HP:0001574	Abnormality of the integument	348938	NIPAL4	ORPHA:313
HP:0001574	Abnormality of the integument	7051	TGM1	ORPHA:79394
HP:0001574	Abnormality of the integument	7051	TGM1	ORPHA:313
HP:0001574	Abnormality of the integument	121214	SDR9C7	ORPHA:79394
HP:0001574	Abnormality of the integument	121214	SDR9C7	ORPHA:313
HP:0001574	Abnormality of the integument	51776	MAP3K20	ORPHA:488232
HP:0001574	Abnormality of the integument	9333	TGM5	OMIM:609796
HP:0001574	Abnormality of the integument	151516	ASPRV1	ORPHA:313
HP:0001574	Abnormality of the integument	126410	CYP4F22	ORPHA:313
HP:0001574	Abnormality of the integument	643418	LIPN	ORPHA:313
HP:0001574	Abnormality of the integument	9241	NOG	ORPHA:3237
HP:0001574	Abnormality of the integument	8200	GDF5	ORPHA:3237
HP:0001574	Abnormality of the integument	2254	FGF9	ORPHA:3237
HP:0001574	Abnormality of the integument	9488	PIGB	OMIM:618580
HP:0001574	Abnormality of the integument	6477	SIAH1	OMIM:619314
HP:0001574	Abnormality of the integument	51412	ACTL6B	OMIM:618470
HP:0001574	Abnormality of the integument	55784	MCTP2	ORPHA:1596
HP:0001574	Abnormality of the integument	7102	TSPAN7	OMIM:300210
HP:0001574	Abnormality of the integument	84065	TMEM222	OMIM:619470
HP:0001574	Abnormality of the integument	8493	PPM1D	OMIM:617450
HP:0001574	Abnormality of the integument	5828	PEX2	OMIM:614866
HP:0001574	Abnormality of the integument	388015	RTL1	ORPHA:96334
HP:0001574	Abnormality of the integument	8788	DLK1	ORPHA:96334
HP:0001574	Abnormality of the integument	55384	MEG3	ORPHA:96334
HP:0001574	Abnormality of the integument	79087	ALG12	ORPHA:79324
HP:0001574	Abnormality of the integument	57647	DHX37	OMIM:618731
HP:0001574	Abnormality of the integument	10075	HUWE1	OMIM:309590
HP:0001574	Abnormality of the integument	1889	ECE1	OMIM:613870
HP:0001574	Abnormality of the integument	72	ACTG2	ORPHA:2604
HP:0001574	Abnormality of the integument	343637	RSPO4	OMIM:206800
HP:0001574	Abnormality of the integument	4882	NPR2	OMIM:602875
HP:0001574	Abnormality of the integument	2317	FLNB	OMIM:150250
HP:0001574	Abnormality of the integument	2317	FLNB	ORPHA:503
HP:0001574	Abnormality of the integument	9894	TELO2	ORPHA:488642
HP:0001574	Abnormality of the integument	7750	ZMYM2	OMIM:619522
HP:0001574	Abnormality of the integument	1376	CPT2	OMIM:608836
HP:0001574	Abnormality of the integument	5281	PIGF	OMIM:619356
HP:0001574	Abnormality of the integument	57061	HYMAI	ORPHA:96191
HP:0001574	Abnormality of the integument	5325	PLAGL1	ORPHA:96191
HP:0001574	Abnormality of the integument	80152	CENPT	OMIM:618702
HP:0001574	Abnormality of the integument	9897	WASHC5	ORPHA:7
HP:0001574	Abnormality of the integument	28952	CCDC22	ORPHA:7
HP:0001574	Abnormality of the integument	6473	SHOX	ORPHA:240
HP:0001574	Abnormality of the integument	1028	CDKN1C	ORPHA:397590
HP:0001574	Abnormality of the integument	5324	PLAG1	ORPHA:397590
HP:0001574	Abnormality of the integument	1302	COL11A2	ORPHA:2021
HP:0001574	Abnormality of the integument	168667	BMPER	OMIM:608022
HP:0001574	Abnormality of the integument	8323	FZD6	OMIM:161050
HP:0001574	Abnormality of the integument	57688	ZSWIM6	OMIM:603671
HP:0001574	Abnormality of the integument	818	CAMK2G	OMIM:618522
HP:0001574	Abnormality of the integument	6603	SMARCD2	OMIM:617475
HP:0001574	Abnormality of the integument	23309	SIN3B	ORPHA:500166
HP:0001574	Abnormality of the integument	25942	SIN3A	ORPHA:500166
HP:0001574	Abnormality of the integument	25942	SIN3A	OMIM:613406
HP:0001574	Abnormality of the integument	162	AP1B1	OMIM:242150
HP:0001574	Abnormality of the integument	2512	FTL	ORPHA:254704
HP:0001574	Abnormality of the integument	7227	TRPS1	ORPHA:77258
HP:0001574	Abnormality of the integument	7879	RAB7A	OMIM:600882
HP:0001574	Abnormality of the integument	8726	EED	OMIM:617561
HP:0001574	Abnormality of the integument	26834	RNU4-2	OMIM:620851
HP:0001574	Abnormality of the integument	1053	CEBPE	OMIM:260570
HP:0001574	Abnormality of the integument	3549	IHH	OMIM:607778
HP:0001574	Abnormality of the integument	3549	IHH	ORPHA:63446
HP:0001574	Abnormality of the integument	10559	SLC35A1	ORPHA:238459
HP:0001574	Abnormality of the integument	10559	SLC35A1	OMIM:603585
HP:0001574	Abnormality of the integument	2048	EPHB2	OMIM:618462
HP:0001574	Abnormality of the integument	9213	XPR1	ORPHA:1980
HP:0001574	Abnormality of the integument	57462	MYORG	ORPHA:1980
HP:0001574	Abnormality of the integument	6575	SLC20A2	ORPHA:1980
HP:0001574	Abnormality of the integument	58494	JAM2	ORPHA:1980
HP:0001574	Abnormality of the integument	392255	GDF6	OMIM:118100
HP:0001574	Abnormality of the integument	392255	GDF6	ORPHA:2345
HP:0001574	Abnormality of the integument	79005	SCNM1	OMIM:620107
HP:0001574	Abnormality of the integument	4849	CNOT3	OMIM:618672
HP:0001574	Abnormality of the integument	4222	MEOX1	OMIM:214300
HP:0001574	Abnormality of the integument	4222	MEOX1	ORPHA:2345
HP:0001574	Abnormality of the integument	84700	MYO18B	OMIM:616549
HP:0001574	Abnormality of the integument	9573	GDF3	ORPHA:2345
HP:0001574	Abnormality of the integument	27152	INTU	OMIM:617925
HP:0001574	Abnormality of the integument	50964	SOST	OMIM:269500
HP:0001574	Abnormality of the integument	2737	GLI3	ORPHA:672
HP:0001574	Abnormality of the integument	2737	GLI3	OMIM:146510
HP:0001574	Abnormality of the integument	2737	GLI3	OMIM:175700
HP:0001574	Abnormality of the integument	2737	GLI3	OMIM:174200
HP:0001574	Abnormality of the integument	4038	LRP4	OMIM:614305
HP:0001574	Abnormality of the integument	55733	HHAT	OMIM:600092
HP:0001574	Abnormality of the integument	1855	DVL1	OMIM:616331
HP:0001574	Abnormality of the integument	1855	DVL1	OMIM:180700
HP:0001574	Abnormality of the integument	123041	SLC24A4	OMIM:615887
HP:0001574	Abnormality of the integument	10940	POP1	OMIM:617396
HP:0001574	Abnormality of the integument	727857	BHLHA9	OMIM:607539
HP:0001574	Abnormality of the integument	8985	PLOD3	OMIM:612394
HP:0001574	Abnormality of the integument	2255	FGF10	ORPHA:2363
HP:0001574	Abnormality of the integument	4920	ROR2	OMIM:268310
HP:0001574	Abnormality of the integument	8813	DPM1	OMIM:608799
HP:0001574	Abnormality of the integument	8813	DPM1	ORPHA:79322
HP:0001574	Abnormality of the integument	2239	GPC4	ORPHA:373
HP:0001574	Abnormality of the integument	2719	GPC3	ORPHA:373
HP:0001574	Abnormality of the integument	652	BMP4	ORPHA:139471
HP:0001574	Abnormality of the integument	5818	NECTIN1	OMIM:225060
HP:0001574	Abnormality of the integument	84168	ANTXR1	OMIM:230740
HP:0001574	Abnormality of the integument	7476	WNT7A	ORPHA:2879
HP:0001574	Abnormality of the integument	7474	WNT5A	OMIM:180700
HP:0001574	Abnormality of the integument	10195	ALG3	OMIM:601110
HP:0001574	Abnormality of the integument	8295	TRRAP	OMIM:618454
HP:0001574	Abnormality of the integument	6736	SRY	ORPHA:1772
HP:0001574	Abnormality of the integument	11342	RNF13	ORPHA:544503
HP:0001574	Abnormality of the integument	25886	POC1A	OMIM:614813
HP:0001574	Abnormality of the integument	84520	GON7	OMIM:619603
HP:0001574	Abnormality of the integument	497661	C18orf32	OMIM:619985
HP:0001574	Abnormality of the integument	775	CACNA1C	OMIM:620029
HP:0001574	Abnormality of the integument	1801	DPH1	OMIM:616901
HP:0001574	Abnormality of the integument	1801	DPH1	ORPHA:459061
HP:0001574	Abnormality of the integument	9419	CRIPT	OMIM:615789
HP:0001574	Abnormality of the integument	79669	C3orf52	OMIM:620177
HP:0001574	Abnormality of the integument	1802	DPH2	OMIM:620062
HP:0001574	Abnormality of the integument	1802	DPH2	ORPHA:459061
HP:0001574	Abnormality of the integument	79971	WLS	OMIM:619648
HP:0001574	Abnormality of the integument	9742	IFT140	OMIM:266920
HP:0001574	Abnormality of the integument	56896	DPYSL5	OMIM:619435
HP:0001574	Abnormality of the integument	3188	HNRNPH2	OMIM:300986
HP:0001574	Abnormality of the integument	2972	BRF1	OMIM:616202
HP:0001574	Abnormality of the integument	2972	BRF1	ORPHA:444072
HP:0001574	Abnormality of the integument	51132	RLIM	OMIM:300978
HP:0001574	Abnormality of the integument	9698	PUM1	OMIM:620719
HP:0001574	Abnormality of the integument	9056	SLC7A7	OMIM:222700
HP:0001574	Abnormality of the integument	11193	WBP4	OMIM:620852
HP:0001574	Abnormality of the integument	7840	ALMS1	ORPHA:64
HP:0001574	Abnormality of the integument	57459	GATAD2B	ORPHA:363686
HP:0001574	Abnormality of the integument	23522	KAT6B	ORPHA:85201
HP:0001574	Abnormality of the integument	54676	GTPBP2	OMIM:617988
HP:0001574	Abnormality of the integument	3242	HPD	ORPHA:2118
HP:0001574	Abnormality of the integument	80067	DCAF17	OMIM:241080
HP:0001574	Abnormality of the integument	83932	SPRTN	OMIM:616200
HP:0001574	Abnormality of the integument	79991	STN1	OMIM:617341
HP:0001574	Abnormality of the integument	4193	MDM2	OMIM:618681
HP:0001574	Abnormality of the integument	9675	TTI1	OMIM:620445
HP:0001574	Abnormality of the integument	79184	BRCC3	ORPHA:280679
HP:0001574	Abnormality of the integument	8884	SLC5A6	OMIM:619903
HP:0001574	Abnormality of the integument	1829	DSG2	OMIM:610193
HP:0001574	Abnormality of the integument	25959	KANK2	OMIM:616099
HP:0001574	Abnormality of the integument	1824	DSC2	OMIM:610476
HP:0001574	Abnormality of the integument	2488	FSHB	ORPHA:52901
HP:0001574	Abnormality of the integument	3972	LHB	OMIM:228300
HP:0001574	Abnormality of the integument	1586	CYP17A1	ORPHA:90796
HP:0001574	Abnormality of the integument	10011	SRA1	OMIM:146110
HP:0001574	Abnormality of the integument	2796	GNRH1	OMIM:146110
HP:0001574	Abnormality of the integument	558	AXL	OMIM:146110
HP:0001574	Abnormality of the integument	2798	GNRHR	OMIM:146110
HP:0001574	Abnormality of the integument	6845	VAMP7	ORPHA:251510
HP:0001574	Abnormality of the integument	51741	WWOX	ORPHA:251510
HP:0001574	Abnormality of the integument	7490	WT1	ORPHA:251510
HP:0001574	Abnormality of the integument	23414	ZFPM2	ORPHA:251510
HP:0001574	Abnormality of the integument	23594	ORC6	OMIM:613803
HP:0001574	Abnormality of the integument	79083	MLPH	OMIM:609227
HP:0001574	Abnormality of the integument	8604	SLC25A12	OMIM:612949
HP:0001574	Abnormality of the integument	26012	NSMF	ORPHA:432
HP:0001574	Abnormality of the integument	4808	NHLH2	ORPHA:432
HP:0001574	Abnormality of the integument	84634	KISS1R	ORPHA:432
HP:0001574	Abnormality of the integument	6866	TAC3	ORPHA:432
HP:0001574	Abnormality of the integument	3814	KISS1	ORPHA:432
HP:0001574	Abnormality of the integument	7062	TCHH	OMIM:617252
HP:0001574	Abnormality of the integument	8139	GAN	ORPHA:643
HP:0001574	Abnormality of the integument	9758	FRMPD4	OMIM:300983
HP:0001574	Abnormality of the integument	20	ABCA2	OMIM:618808
HP:0001574	Abnormality of the integument	6901	TAFAZZIN	OMIM:302060
HP:0001574	Abnormality of the integument	1760	DMPK	OMIM:160900
HP:0001574	Abnormality of the integument	51095	TRNT1	OMIM:616084
HP:0001574	Abnormality of the integument	222663	SCUBE3	OMIM:619184
HP:0001574	Abnormality of the integument	55210	ATAD3A	OMIM:618810
HP:0001574	Abnormality of the integument	11198	SUPT16H	ORPHA:261229
HP:0001574	Abnormality of the integument	57680	CHD8	ORPHA:261229
HP:0001574	Abnormality of the integument	10128	LRPPRC	OMIM:220111
HP:0001574	Abnormality of the integument	58499	ZNF462	ORPHA:502430
HP:0001574	Abnormality of the integument	58499	ZNF462	OMIM:618619
HP:0001574	Abnormality of the integument	8294	H4C9	OMIM:619951
HP:0001574	Abnormality of the integument	50651	SLC45A1	OMIM:617532
HP:0001574	Abnormality of the integument	23334	SZT2	OMIM:615476
HP:0001574	Abnormality of the integument	55627	SMPD4	OMIM:618622
HP:0001574	Abnormality of the integument	613	BCR	ORPHA:261330
HP:0001574	Abnormality of the integument	1399	CRKL	ORPHA:261330
HP:0001574	Abnormality of the integument	23322	RPGRIP1L	ORPHA:220497
HP:0001574	Abnormality of the integument	23322	RPGRIP1L	ORPHA:1454
HP:0001574	Abnormality of the integument	4867	NPHP1	ORPHA:220497
HP:0001574	Abnormality of the integument	65062	TMEM237	ORPHA:220497
HP:0001574	Abnormality of the integument	65062	TMEM237	ORPHA:475
HP:0001574	Abnormality of the integument	65062	TMEM237	OMIM:614424
HP:0001574	Abnormality of the integument	65062	TMEM237	ORPHA:2318
HP:0001574	Abnormality of the integument	54806	AHI1	ORPHA:220493
HP:0001574	Abnormality of the integument	54806	AHI1	ORPHA:475
HP:0001574	Abnormality of the integument	54806	AHI1	OMIM:608629
HP:0001574	Abnormality of the integument	56623	INPP5E	ORPHA:220493
HP:0001574	Abnormality of the integument	56623	INPP5E	ORPHA:475
HP:0001574	Abnormality of the integument	56623	INPP5E	OMIM:213300
HP:0001574	Abnormality of the integument	56623	INPP5E	ORPHA:1454
HP:0001574	Abnormality of the integument	153241	CEP120	ORPHA:220493
HP:0001574	Abnormality of the integument	153241	CEP120	ORPHA:475
HP:0001574	Abnormality of the integument	54903	MKS1	ORPHA:220493
HP:0001574	Abnormality of the integument	54903	MKS1	ORPHA:475
HP:0001574	Abnormality of the integument	54903	MKS1	OMIM:617121
HP:0001574	Abnormality of the integument	95681	CEP41	ORPHA:220493
HP:0001574	Abnormality of the integument	95681	CEP41	ORPHA:475
HP:0001574	Abnormality of the integument	80055	PGAP1	OMIM:615802
HP:0001574	Abnormality of the integument	24142	NAA80	OMIM:620830
HP:0001574	Abnormality of the integument	29072	SETD2	OMIM:620157
HP:0001574	Abnormality of the integument	29072	SETD2	OMIM:620155
HP:0001574	Abnormality of the integument	55780	ERMARD	ORPHA:75857
HP:0001574	Abnormality of the integument	9723	SEMA3E	ORPHA:138
HP:0001574	Abnormality of the integument	55650	PIGV	OMIM:239300
HP:0001574	Abnormality of the integument	55650	PIGV	ORPHA:247262
HP:0001574	Abnormality of the integument	84992	PIGY	ORPHA:247262
HP:0001574	Abnormality of the integument	84720	PIGO	ORPHA:247262
HP:0001574	Abnormality of the integument	93210	PGAP3	ORPHA:247262
HP:0001574	Abnormality of the integument	284098	PIGW	ORPHA:247262
HP:0001574	Abnormality of the integument	27315	PGAP2	ORPHA:247262
HP:0001574	Abnormality of the integument	317662	FAM149B1	OMIM:618763
HP:0001574	Abnormality of the integument	317662	FAM149B1	ORPHA:2754
HP:0001574	Abnormality of the integument	10584	COLEC10	OMIM:248340
HP:0001574	Abnormality of the integument	10584	COLEC10	ORPHA:293843
HP:0001574	Abnormality of the integument	23184	MESD	OMIM:618644
HP:0001574	Abnormality of the integument	23325	WASHC4	OMIM:615817
HP:0001574	Abnormality of the integument	1954	MEGF8	OMIM:614976
HP:0001574	Abnormality of the integument	53834	FGFRL1	OMIM:194190
HP:0001574	Abnormality of the integument	9851	KIAA0753	ORPHA:475
HP:0001574	Abnormality of the integument	9851	KIAA0753	ORPHA:2754
HP:0001574	Abnormality of the integument	5147	PDE6D	ORPHA:475
HP:0001574	Abnormality of the integument	5147	PDE6D	ORPHA:2754
HP:0001574	Abnormality of the integument	79600	TCTN1	ORPHA:475
HP:0001574	Abnormality of the integument	79848	CSPP1	ORPHA:475
HP:0001574	Abnormality of the integument	65250	CPLANE1	ORPHA:475
HP:0001574	Abnormality of the integument	65250	CPLANE1	ORPHA:2754
HP:0001574	Abnormality of the integument	91147	TMEM67	ORPHA:475
HP:0001574	Abnormality of the integument	91147	TMEM67	ORPHA:1454
HP:0001574	Abnormality of the integument	200894	ARL13B	ORPHA:475
HP:0001574	Abnormality of the integument	219844	HYLS1	ORPHA:475
HP:0001574	Abnormality of the integument	23247	KATNIP	ORPHA:475
HP:0001574	Abnormality of the integument	219854	TMEM218	ORPHA:475
HP:0001574	Abnormality of the integument	9786	KIAA0586	ORPHA:475
HP:0001574	Abnormality of the integument	26123	TCTN3	ORPHA:475
HP:0001574	Abnormality of the integument	26123	TCTN3	ORPHA:2754
HP:0001574	Abnormality of the integument	79867	TCTN2	ORPHA:475
HP:0001574	Abnormality of the integument	80776	B9D2	ORPHA:475
HP:0001574	Abnormality of the integument	10464	PIBF1	ORPHA:475
HP:0001574	Abnormality of the integument	80210	ARMC9	ORPHA:475
HP:0001574	Abnormality of the integument	23116	TOGARAM1	ORPHA:475
HP:0001574	Abnormality of the integument	25776	CBY1	ORPHA:475
HP:0001574	Abnormality of the integument	27077	B9D1	ORPHA:475
HP:0001574	Abnormality of the integument	80173	IFT74	ORPHA:475
HP:0001574	Abnormality of the integument	5792	PTPRF	OMIM:616001
HP:0001574	Abnormality of the integument	8363	H4C11	OMIM:619759
HP:0001574	Abnormality of the integument	78989	COLEC11	OMIM:265050
HP:0001574	Abnormality of the integument	78989	COLEC11	ORPHA:293843
HP:0001574	Abnormality of the integument	10472	ZBTB18	OMIM:612337
HP:0001574	Abnormality of the integument	3187	HNRNPH1	OMIM:620083
HP:0001574	Abnormality of the integument	4123	MAN2C1	OMIM:619775
HP:0001574	Abnormality of the integument	23483	TGDS	ORPHA:1388
HP:0001574	Abnormality of the integument	85459	CEP295	OMIM:620767
HP:0001574	Abnormality of the integument	9427	ECEL1	OMIM:615065
HP:0001574	Abnormality of the integument	84188	FAR1	OMIM:616154
HP:0001574	Abnormality of the integument	84188	FAR1	ORPHA:438178
HP:0001574	Abnormality of the integument	5910	RAP1GDS1	OMIM:620655
HP:0001574	Abnormality of the integument	9900	SV2A	OMIM:620772
HP:0001574	Abnormality of the integument	54517	PUS7	OMIM:618342
HP:0001574	Abnormality of the integument	92335	STRADA	ORPHA:500533
HP:0001574	Abnormality of the integument	6091	ROBO1	OMIM:620305
HP:0001574	Abnormality of the integument	84320	ACBD6	OMIM:620785
HP:0001574	Abnormality of the integument	90459	ERI1	OMIM:620662
HP:0001574	Abnormality of the integument	56975	FAM20C	OMIM:259775
HP:0001574	Abnormality of the integument	166378	AFG2A	ORPHA:457351
HP:0001574	Abnormality of the integument	23511	NUP188	OMIM:618804
HP:0001574	Abnormality of the integument	26999	CYFIP2	OMIM:618008
HP:0001574	Abnormality of the integument	79583	TMEM231	ORPHA:2318
HP:0001574	Abnormality of the integument	79583	TMEM231	ORPHA:2754
HP:0001574	Abnormality of the integument	51524	TMEM138	ORPHA:2318
HP:0001574	Abnormality of the integument	23090	ZNF423	ORPHA:2318
HP:0001574	Abnormality of the integument	80184	CEP290	ORPHA:2318
HP:0001574	Abnormality of the integument	51259	TMEM216	ORPHA:2318
HP:0001574	Abnormality of the integument	51259	TMEM216	ORPHA:2754
HP:0001574	Abnormality of the integument	57545	CC2D2A	ORPHA:2318
HP:0001574	Abnormality of the integument	57545	CC2D2A	ORPHA:1454
HP:0001574	Abnormality of the integument	71	ACTG1	OMIM:614583
HP:0001574	Abnormality of the integument	71	ACTG1	ORPHA:2995
HP:0001574	Abnormality of the integument	348180	CTU2	OMIM:618142
HP:0001574	Abnormality of the integument	94005	PIGS	OMIM:618143
HP:0001574	Abnormality of the integument	4762	NEUROG1	OMIM:620469
HP:0001574	Abnormality of the integument	2571	GAD1	OMIM:619124
HP:0001574	Abnormality of the integument	6472	SHMT2	OMIM:619121
HP:0001574	Abnormality of the integument	113246	C12orf57	OMIM:218340
HP:0001574	Abnormality of the integument	259266	ASPM	OMIM:608716
HP:0001574	Abnormality of the integument	57020	VPS35L	OMIM:619135
HP:0001574	Abnormality of the integument	10210	TOPORS	ORPHA:2754
HP:0001574	Abnormality of the integument	374654	KIF7	ORPHA:2754
HP:0001574	Abnormality of the integument	10519	CIB1	OMIM:618267
HP:0001574	Abnormality of the integument	1643	DDB2	OMIM:278740
HP:0001574	Abnormality of the integument	5727	PTCH1	OMIM:605462
HP:0001574	Abnormality of the integument	5727	PTCH1	ORPHA:377
HP:0001574	Abnormality of the integument	5727	PTCH1	ORPHA:77301
HP:0001574	Abnormality of the integument	5727	PTCH1	OMIM:109400
HP:0001574	Abnormality of the integument	5921	RASA1	OMIM:605462
HP:0001574	Abnormality of the integument	8643	PTCH2	OMIM:605462
HP:0001574	Abnormality of the integument	8643	PTCH2	ORPHA:377
HP:0001574	Abnormality of the integument	7373	COL14A1	ORPHA:79501
HP:0001574	Abnormality of the integument	1308	COL17A1	ORPHA:79406
HP:0001574	Abnormality of the integument	4312	MMP1	ORPHA:79408
HP:0001574	Abnormality of the integument	11322	TMC6	OMIM:226400
HP:0001574	Abnormality of the integument	64218	SEMA4A	ORPHA:440437
HP:0001574	Abnormality of the integument	5426	POLE	ORPHA:440437
HP:0001574	Abnormality of the integument	675	BRCA2	ORPHA:440437
HP:0001574	Abnormality of the integument	6224	RPS20	ORPHA:440437
HP:0001574	Abnormality of the integument	4595	MUTYH	ORPHA:440437
HP:0001574	Abnormality of the integument	5424	POLD1	ORPHA:440437
HP:0001574	Abnormality of the integument	11200	CHEK2	ORPHA:440437
HP:0001574	Abnormality of the integument	2304	FOXE1	OMIM:616534
HP:0001574	Abnormality of the integument	5429	POLH	OMIM:278750
HP:0001574	Abnormality of the integument	5429	POLH	ORPHA:90342
HP:0001574	Abnormality of the integument	2068	ERCC2	ORPHA:220295
HP:0001574	Abnormality of the integument	2068	ERCC2	OMIM:601675
HP:0001574	Abnormality of the integument	2073	ERCC5	ORPHA:220295
HP:0001574	Abnormality of the integument	2071	ERCC3	ORPHA:220295
HP:0001574	Abnormality of the integument	2071	ERCC3	OMIM:610651
HP:0001574	Abnormality of the integument	7298	TYMS	OMIM:620040
HP:0001574	Abnormality of the integument	7508	XPC	OMIM:278720
HP:0001574	Abnormality of the integument	6223	RPS19	OMIM:105650
HP:0001574	Abnormality of the integument	7299	TYR	ORPHA:79431
HP:0001574	Abnormality of the integument	7299	TYR	ORPHA:79434
HP:0001574	Abnormality of the integument	9817	KEAP1	ORPHA:276399
HP:0001574	Abnormality of the integument	23405	DICER1	ORPHA:276399
HP:0001574	Abnormality of the integument	4948	OCA2	ORPHA:79432
HP:0001574	Abnormality of the integument	9020	MAP3K14	OMIM:620449
HP:0001574	Abnormality of the integument	55851	PSENEN	OMIM:613736
HP:0001574	Abnormality of the integument	8795	TNFRSF10B	OMIM:275355
HP:0001574	Abnormality of the integument	3621	ING1	OMIM:275355
HP:0001574	Abnormality of the integument	1736	DKC1	OMIM:305000
HP:0001574	Abnormality of the integument	7486	WRN	ORPHA:902
HP:0001574	Abnormality of the integument	3574	IL7	ORPHA:302
HP:0001574	Abnormality of the integument	147138	TMC8	ORPHA:302
HP:0001574	Abnormality of the integument	55612	FERMT1	ORPHA:2908
HP:0001574	Abnormality of the integument	84464	SLX4	OMIM:613951
HP:0001574	Abnormality of the integument	833	CARS1	ORPHA:33364
HP:0001574	Abnormality of the integument	7737	RNF113A	ORPHA:33364
HP:0001574	Abnormality of the integument	136647	MPLKIP	ORPHA:33364
HP:0001574	Abnormality of the integument	6897	TARS1	ORPHA:33364
HP:0001574	Abnormality of the integument	16	AARS1	ORPHA:33364
HP:0001574	Abnormality of the integument	2961	GTF2E2	ORPHA:33364
HP:0001574	Abnormality of the integument	81704	DOCK8	OMIM:243700
HP:0001574	Abnormality of the integument	81704	DOCK8	ORPHA:217390
HP:0001574	Abnormality of the integument	23328	SASH1	OMIM:618373
HP:0001574	Abnormality of the integument	22861	NLRP1	OMIM:615225
HP:0001574	Abnormality of the integument	2224	FDPS	ORPHA:79152
HP:0001574	Abnormality of the integument	4597	MVD	ORPHA:79152
HP:0001574	Abnormality of the integument	63910	SLC17A9	ORPHA:79152
HP:0001574	Abnormality of the integument	4598	MVK	ORPHA:79152
HP:0001574	Abnormality of the integument	23476	BRD4	ORPHA:443167
HP:0001574	Abnormality of the integument	256646	NUTM1	ORPHA:443167
HP:0001574	Abnormality of the integument	256297	PTF1A	OMIM:609069
HP:0001574	Abnormality of the integument	221496	LEMD2	OMIM:619322
HP:0001574	Abnormality of the integument	6514	SLC2A2	OMIM:227810
HP:0001574	Abnormality of the integument	1594	CYP27B1	OMIM:264700
HP:0001574	Abnormality of the integument	7156	TOP3A	OMIM:618097
HP:0001574	Abnormality of the integument	60	ACTB	OMIM:604919
HP:0001574	Abnormality of the integument	25885	POLR1A	OMIM:616462
HP:0001574	Abnormality of the integument	998	CDC42	ORPHA:487796
HP:0001574	Abnormality of the integument	998	CDC42	OMIM:616737
HP:0001574	Abnormality of the integument	3008	H1-4	OMIM:617537
HP:0001574	Abnormality of the integument	1146	CHRNG	ORPHA:2990
HP:0001574	Abnormality of the integument	1854	DUT	OMIM:620044
HP:0001574	Abnormality of the integument	1009	CDH11	OMIM:211380
HP:0001574	Abnormality of the integument	55869	HDAC8	OMIM:300882
HP:0001574	Abnormality of the integument	10943	MSL3	OMIM:301032
HP:0001574	Abnormality of the integument	8913	CACNA1G	ORPHA:458803
HP:0001574	Abnormality of the integument	3107	HLA-C	OMIM:177900
HP:0001574	Abnormality of the integument	2625	GATA3	ORPHA:2237
HP:0001574	Abnormality of the integument	64919	BCL11B	OMIM:617237
HP:0001574	Abnormality of the integument	359948	IRF2BP2	OMIM:617765
HP:0001574	Abnormality of the integument	6307	MSMO1	OMIM:616834
HP:0001574	Abnormality of the integument	80036	TRPM3	OMIM:620224
HP:0001574	Abnormality of the integument	145258	GSC	OMIM:602471
HP:0001574	Abnormality of the integument	3791	KDR	ORPHA:3303
HP:0001574	Abnormality of the integument	2657	GDF1	ORPHA:3303
HP:0001574	Abnormality of the integument	140628	GATA5	ORPHA:3303
HP:0001574	Abnormality of the integument	27031	NPHP3	OMIM:208540
HP:0001574	Abnormality of the integument	3759	KCNJ2	OMIM:170390
HP:0001574	Abnormality of the integument	4281	MID1	ORPHA:2745
HP:0001574	Abnormality of the integument	387	RHOA	OMIM:618727
HP:0001574	Abnormality of the integument	3763	KCNJ6	ORPHA:435628
HP:0001574	Abnormality of the integument	3763	KCNJ6	OMIM:614098
HP:0001574	Abnormality of the integument	5361	PLXNA1	OMIM:619955
HP:0001574	Abnormality of the integument	10026	PIGK	OMIM:618879
HP:0001574	Abnormality of the integument	51111	KMT5B	OMIM:617788
HP:0001574	Abnormality of the integument	92255	LMBRD2	OMIM:619694
HP:0001574	Abnormality of the integument	10524	KAT5	OMIM:619103
HP:0001574	Abnormality of the integument	5813	PURA	ORPHA:314655
HP:0001574	Abnormality of the integument	51135	IRAK4	ORPHA:70592
HP:0001574	Abnormality of the integument	778	CACNA1F	OMIM:300600
HP:0001574	Abnormality of the integument	1026	CDKN1A	ORPHA:652
HP:0001574	Abnormality of the integument	1031	CDKN2C	ORPHA:652
HP:0001574	Abnormality of the integument	55165	CEP55	OMIM:236500
HP:0001574	Abnormality of the integument	4716	NDUFB10	OMIM:619003
HP:0001574	Abnormality of the integument	10801	SEPTIN9	ORPHA:2901
HP:0001574	Abnormality of the integument	51021	MRPS16	OMIM:610498
HP:0001574	Abnormality of the integument	170689	ADAMTS15	OMIM:620545
HP:0001574	Abnormality of the integument	23446	SLC44A1	OMIM:618868
HP:0001574	Abnormality of the integument	8022	LHX3	ORPHA:226307
HP:0001574	Abnormality of the integument	2584	GALK1	OMIM:230200
HP:0001574	Abnormality of the integument	23600	AMACR	OMIM:214950
HP:0001574	Abnormality of the integument	123264	SLC51B	OMIM:619481
HP:0001574	Abnormality of the integument	55904	KMT2E	OMIM:618512
HP:0001574	Abnormality of the integument	182	JAG1	OMIM:118450
HP:0001574	Abnormality of the integument	25973	PARS2	OMIM:618437
HP:0001574	Abnormality of the integument	6554	SLC10A1	OMIM:619256
HP:0001574	Abnormality of the integument	130589	GALM	OMIM:618881
HP:0001574	Abnormality of the integument	8565	YARS1	OMIM:619418
HP:0001574	Abnormality of the integument	405753	DUOXA2	ORPHA:95716
HP:0001574	Abnormality of the integument	7038	TG	ORPHA:95716
HP:0001574	Abnormality of the integument	7173	TPO	ORPHA:95716
HP:0001574	Abnormality of the integument	389434	IYD	ORPHA:95716
HP:0001574	Abnormality of the integument	7080	NKX2-1	ORPHA:95713
HP:0001574	Abnormality of the integument	84317	CCDC115	OMIM:616828
HP:0001574	Abnormality of the integument	4864	NPC1	OMIM:257220
HP:0001574	Abnormality of the integument	6567	SLC16A2	ORPHA:59
HP:0001574	Abnormality of the integument	2688	GH1	OMIM:262400
HP:0001574	Abnormality of the integument	146059	CDAN1	OMIM:224120
HP:0001574	Abnormality of the integument	2271	FH	OMIM:150800
HP:0001574	Abnormality of the integument	201163	FLCN	OMIM:135150
HP:0001574	Abnormality of the integument	55275	VPS53	OMIM:615851
HP:0001574	Abnormality of the integument	10093	ARPC4	OMIM:620141
HP:0001574	Abnormality of the integument	145264	SERPINA12	ORPHA:86923
HP:0001574	Abnormality of the integument	5354	PLP1	ORPHA:280229
HP:0001574	Abnormality of the integument	714	C1QC	OMIM:620322
HP:0001574	Abnormality of the integument	7386	UQCRFS1	OMIM:618775
HP:0001574	Abnormality of the integument	84342	COG8	OMIM:611182
HP:0001574	Abnormality of the integument	84342	COG8	ORPHA:95428
HP:0001574	Abnormality of the integument	5568	PRKACG	OMIM:616176
HP:0001574	Abnormality of the integument	5080	PAX6	ORPHA:2253
HP:0001574	Abnormality of the integument	60684	TRAPPC11	ORPHA:869
HP:0001574	Abnormality of the integument	6770	STAR	ORPHA:361
HP:0001574	Abnormality of the integument	23530	NNT	ORPHA:361
HP:0001574	Abnormality of the integument	3662	IRF4	ORPHA:3452
HP:0001574	Abnormality of the integument	4841	NONO	ORPHA:466791
HP:0001574	Abnormality of the integument	27238	GPKOW	ORPHA:2570
HP:0001574	Abnormality of the integument	5925	RB1	ORPHA:1587
HP:0001574	Abnormality of the integument	2138	EYA1	ORPHA:2792
HP:0001574	Abnormality of the integument	5075	PAX1	ORPHA:2792
HP:0001574	Abnormality of the integument	3209	HOXA13	ORPHA:2438
HP:0001574	Abnormality of the integument	1723	DHODH	ORPHA:246
HP:0001574	Abnormality of the integument	8239	USP9X	ORPHA:480880
HP:0001574	Abnormality of the integument	8367	H4C5	OMIM:619950
HP:0001574	Abnormality of the integument	8260	NAA10	OMIM:300855
HP:0001574	Abnormality of the integument	1593	CYP27A1	ORPHA:909
HP:0001574	Abnormality of the integument	9791	PTDSS1	ORPHA:2658
HP:0001574	Abnormality of the integument	1062	CENPE	ORPHA:808
HP:0001574	Abnormality of the integument	5932	RBBP8	ORPHA:808
HP:0001574	Abnormality of the integument	79902	NUP85	ORPHA:808
HP:0001574	Abnormality of the integument	84126	ATRIP	ORPHA:808
HP:0001574	Abnormality of the integument	10293	TRAIP	ORPHA:808
HP:0001574	Abnormality of the integument	22995	CEP152	ORPHA:808
HP:0001574	Abnormality of the integument	388552	BLOC1S3	OMIM:614077
HP:0001574	Abnormality of the integument	283652	SLC24A5	OMIM:113750
HP:0001574	Abnormality of the integument	8546	AP3B1	OMIM:608233
HP:0001574	Abnormality of the integument	378884	NHLRC1	ORPHA:501
HP:0001574	Abnormality of the integument	257	ALX3	OMIM:136760
HP:0001574	Abnormality of the integument	3141	HLCS	ORPHA:79242
HP:0001574	Abnormality of the integument	10558	SPTLC1	ORPHA:36386
HP:0001574	Abnormality of the integument	25923	ATL3	ORPHA:36386
HP:0001574	Abnormality of the integument	51062	ATL1	ORPHA:36386
HP:0001574	Abnormality of the integument	5373	PMM2	ORPHA:79318
HP:0001574	Abnormality of the integument	5373	PMM2	OMIM:212065
HP:0001574	Abnormality of the integument	5980	REV3L	ORPHA:570
HP:0001574	Abnormality of the integument	727	C5	OMIM:609536
HP:0001574	Abnormality of the integument	283989	TSEN54	ORPHA:2524
HP:0001574	Abnormality of the integument	116461	TSEN15	ORPHA:2524
HP:0001574	Abnormality of the integument	79042	TSEN34	ORPHA:2524
HP:0001574	Abnormality of the integument	51091	SEPSECS	ORPHA:2524
HP:0001574	Abnormality of the integument	7140	TNNT3	ORPHA:1147
HP:0001574	Abnormality of the integument	259232	NALCN	ORPHA:1147
HP:0001574	Abnormality of the integument	7136	TNNI2	ORPHA:1147
HP:0001574	Abnormality of the integument	8074	FGF23	OMIM:617993
HP:0001574	Abnormality of the integument	5702	PSMC3	OMIM:619354
HP:0001574	Abnormality of the integument	10735	STAG2	OMIM:301022
HP:0001574	Abnormality of the integument	2483	FRG1	OMIM:158900
HP:0001574	Abnormality of the integument	4536	MT-ND2	ORPHA:104
HP:0001574	Abnormality of the integument	4720	NDUFS2	ORPHA:104
HP:0001574	Abnormality of the integument	4508	MT-ATP6	ORPHA:104
HP:0001574	Abnormality of the integument	4539	MT-ND4L	ORPHA:104
HP:0001574	Abnormality of the integument	1120	CHKB	OMIM:602541
HP:0001574	Abnormality of the integument	9342	SNAP29	ORPHA:66631
HP:0001574	Abnormality of the integument	9342	SNAP29	OMIM:609528
HP:0001574	Abnormality of the integument	128486	FITM2	OMIM:618635
HP:0001574	Abnormality of the integument	29968	PSAT1	ORPHA:284417
HP:0001574	Abnormality of the integument	29968	PSAT1	OMIM:616038
HP:0001574	Abnormality of the integument	3560	IL2RB	OMIM:618495
HP:0001574	Abnormality of the integument	55670	PEX26	ORPHA:772
HP:0001574	Abnormality of the integument	8504	PEX3	ORPHA:772
HP:0001574	Abnormality of the integument	9409	PEX16	ORPHA:772
HP:0001574	Abnormality of the integument	5830	PEX5	ORPHA:772
HP:0001574	Abnormality of the integument	5193	PEX12	ORPHA:772
HP:0001574	Abnormality of the integument	5194	PEX13	ORPHA:772
HP:0001574	Abnormality of the integument	5195	PEX14	ORPHA:772
HP:0001574	Abnormality of the integument	5192	PEX10	ORPHA:772
HP:0001574	Abnormality of the integument	415	ARSL	OMIM:302950
HP:0001574	Abnormality of the integument	2010	EMD	ORPHA:98863
HP:0001574	Abnormality of the integument	10371	SEMA3A	ORPHA:478
HP:0001574	Abnormality of the integument	81848	SPRY4	ORPHA:478
HP:0001574	Abnormality of the integument	23767	FLRT3	ORPHA:478
HP:0001574	Abnormality of the integument	79625	NDNF	ORPHA:478
HP:0001574	Abnormality of the integument	2253	FGF8	ORPHA:478
HP:0001574	Abnormality of the integument	389549	FEZF1	ORPHA:478
HP:0001574	Abnormality of the integument	1630	DCC	ORPHA:478
HP:0001574	Abnormality of the integument	3730	ANOS1	ORPHA:478
HP:0001574	Abnormality of the integument	54756	IL17RD	ORPHA:478
HP:0001574	Abnormality of the integument	285025	CCDC141	ORPHA:478
HP:0001574	Abnormality of the integument	60675	PROK2	ORPHA:478
HP:0001574	Abnormality of the integument	1848	DUSP6	ORPHA:478
HP:0001574	Abnormality of the integument	6870	TACR3	ORPHA:478
HP:0001574	Abnormality of the integument	9394	HS6ST1	ORPHA:478
HP:0001574	Abnormality of the integument	8822	FGF17	ORPHA:478
HP:0001574	Abnormality of the integument	79188	TMEM43	ORPHA:98853
HP:0001574	Abnormality of the integument	23345	SYNE1	ORPHA:98853
HP:0001574	Abnormality of the integument	23224	SYNE2	ORPHA:98853
HP:0001574	Abnormality of the integument	1718	DHCR24	ORPHA:35107
HP:0001574	Abnormality of the integument	3516	RBPJ	ORPHA:974
HP:0001574	Abnormality of the integument	4851	NOTCH1	ORPHA:974
HP:0001574	Abnormality of the integument	57514	ARHGAP31	ORPHA:974
HP:0001574	Abnormality of the integument	57572	DOCK6	ORPHA:974
HP:0001574	Abnormality of the integument	285203	EOGT	ORPHA:974
HP:0001574	Abnormality of the integument	54567	DLL4	ORPHA:974
HP:0001574	Abnormality of the integument	3119	HLA-DQB1	ORPHA:703
HP:0001574	Abnormality of the integument	362	AQP5	ORPHA:2337
HP:0001574	Abnormality of the integument	3655	ITGA6	ORPHA:79403
HP:0001574	Abnormality of the integument	3655	ITGA6	OMIM:619817
HP:0001574	Abnormality of the integument	3728	JUP	OMIM:601214
HP:0001574	Abnormality of the integument	1825	DSC3	OMIM:613102
HP:0001574	Abnormality of the integument	3849	KRT2	ORPHA:455
HP:0001574	Abnormality of the integument	10320	IKZF1	ORPHA:36426
HP:0001574	Abnormality of the integument	340665	CYP26C1	ORPHA:398189
HP:0001574	Abnormality of the integument	4210	MEFV	ORPHA:3243
HP:0001574	Abnormality of the integument	4210	MEFV	ORPHA:117
HP:0001574	Abnormality of the integument	5777	PTPN6	ORPHA:3243
HP:0001574	Abnormality of the integument	23086	EXPH5	OMIM:615028
HP:0001574	Abnormality of the integument	667	DST	OMIM:615425
HP:0001574	Abnormality of the integument	54800	KLHL24	OMIM:617294
HP:0001574	Abnormality of the integument	5590	PRKCZ	ORPHA:1606
HP:0001574	Abnormality of the integument	2563	GABRD	ORPHA:1606
HP:0001574	Abnormality of the integument	8510	MMP23B	ORPHA:1606
HP:0001574	Abnormality of the integument	7798	LUZP1	ORPHA:1606
HP:0001574	Abnormality of the integument	6497	SKI	ORPHA:1606
HP:0001574	Abnormality of the integument	10630	PDPN	ORPHA:1606
HP:0001574	Abnormality of the integument	3339	HSPG2	ORPHA:1606
HP:0001574	Abnormality of the integument	10277	UBE4B	ORPHA:1606
HP:0001574	Abnormality of the integument	8514	KCNAB2	ORPHA:1606
HP:0001574	Abnormality of the integument	473	RERE	ORPHA:1606
HP:0001574	Abnormality of the integument	63976	PRDM16	ORPHA:1606
HP:0001574	Abnormality of the integument	54897	CASZ1	ORPHA:1606
HP:0001574	Abnormality of the integument	3675	ITGA3	OMIM:614748
HP:0001574	Abnormality of the integument	55739	NAXD	OMIM:618321
HP:0001574	Abnormality of the integument	340024	SLC6A19	ORPHA:2116
HP:0001574	Abnormality of the integument	57393	CLTRN	ORPHA:2116
HP:0001574	Abnormality of the integument	50943	FOXP3	ORPHA:37042
HP:0001574	Abnormality of the integument	3857	KRT9	ORPHA:2199
HP:0001574	Abnormality of the integument	1475	CSTA	ORPHA:263534
HP:0001574	Abnormality of the integument	80169	CTC1	ORPHA:1775
HP:0001574	Abnormality of the integument	55651	NHP2	ORPHA:1775
HP:0001574	Abnormality of the integument	51750	RTEL1	ORPHA:1775
HP:0001574	Abnormality of the integument	4869	NPM1	ORPHA:1775
HP:0001574	Abnormality of the integument	7012	TERC	ORPHA:1775
HP:0001574	Abnormality of the integument	55505	NOP10	ORPHA:1775
HP:0001574	Abnormality of the integument	149233	IL23R	ORPHA:117
HP:0001574	Abnormality of the integument	3586	IL10	ORPHA:117
HP:0001574	Abnormality of the integument	1230	CCR1	ORPHA:117
HP:0001574	Abnormality of the integument	3592	IL12A	ORPHA:117
HP:0001574	Abnormality of the integument	101928376	IL12A-AS1	ORPHA:117
HP:0001574	Abnormality of the integument	7099	TLR4	ORPHA:117
HP:0001574	Abnormality of the integument	3459	IFNGR1	ORPHA:117
HP:0001574	Abnormality of the integument	720	C4A	ORPHA:117
HP:0001574	Abnormality of the integument	337867	UBAC2	ORPHA:117
HP:0001574	Abnormality of the integument	51752	ERAP1	ORPHA:117
HP:0001574	Abnormality of the integument	8302	KLRC4	ORPHA:117
HP:0001574	Abnormality of the integument	10804	GJB6	ORPHA:477
HP:0001574	Abnormality of the integument	2706	GJB2	ORPHA:477
HP:0001574	Abnormality of the integument	1499	CTNNB1	ORPHA:873
HP:0001574	Abnormality of the integument	324	APC	ORPHA:873
HP:0001574	Abnormality of the integument	1493	CTLA4	ORPHA:3162
HP:0001574	Abnormality of the integument	1493	CTLA4	ORPHA:2584
HP:0001574	Abnormality of the integument	940	CD28	ORPHA:3162
HP:0001574	Abnormality of the integument	940	CD28	ORPHA:2584
HP:0001574	Abnormality of the integument	7133	TNFRSF1B	ORPHA:3162
HP:0001574	Abnormality of the integument	7133	TNFRSF1B	ORPHA:2584
HP:0001574	Abnormality of the integument	355	FAS	ORPHA:3261
HP:0001574	Abnormality of the integument	356	FASLG	ORPHA:3261
HP:0001574	Abnormality of the integument	843	CASP10	ORPHA:3261
HP:0001574	Abnormality of the integument	4854	NOTCH3	ORPHA:2591
HP:0001574	Abnormality of the integument	5159	PDGFRB	ORPHA:2591
HP:0001574	Abnormality of the integument	9630	GNA14	ORPHA:1063
HP:0001574	Abnormality of the integument	4913	NTHL1	ORPHA:454840
HP:0001574	Abnormality of the integument	2072	ERCC4	OMIM:278760
HP:0001574	Abnormality of the integument	9401	RECQL4	ORPHA:221016
HP:0001574	Abnormality of the integument	8314	BAP1	ORPHA:2495
HP:0001574	Abnormality of the integument	4771	NF2	ORPHA:2495
HP:0001574	Abnormality of the integument	4771	NF2	ORPHA:637
HP:0001574	Abnormality of the integument	6598	SMARCB1	ORPHA:2495
HP:0001574	Abnormality of the integument	5155	PDGFB	ORPHA:2495
HP:0001574	Abnormality of the integument	5155	PDGFB	ORPHA:31112
HP:0001574	Abnormality of the integument	84231	TRAF7	ORPHA:2495
HP:0001574	Abnormality of the integument	6608	SMO	ORPHA:2495
HP:0001574	Abnormality of the integument	207	AKT1	ORPHA:2495
HP:0001574	Abnormality of the integument	207	AKT1	ORPHA:201
HP:0001574	Abnormality of the integument	5290	PIK3CA	ORPHA:2495
HP:0001574	Abnormality of the integument	5290	PIK3CA	ORPHA:144
HP:0001574	Abnormality of the integument	5290	PIK3CA	ORPHA:201
HP:0001574	Abnormality of the integument	7015	TERT	ORPHA:2495
HP:0001574	Abnormality of the integument	51684	SUFU	ORPHA:2495
HP:0001574	Abnormality of the integument	6605	SMARCE1	ORPHA:2495
HP:0001574	Abnormality of the integument	6578	SLCO2A1	ORPHA:2796
HP:0001574	Abnormality of the integument	4292	MLH1	ORPHA:144
HP:0001574	Abnormality of the integument	5395	PMS2	ORPHA:144
HP:0001574	Abnormality of the integument	7048	TGFBR2	ORPHA:144
HP:0001574	Abnormality of the integument	3845	KRAS	ORPHA:144
HP:0001574	Abnormality of the integument	2956	MSH6	ORPHA:144
HP:0001574	Abnormality of the integument	5378	PMS1	ORPHA:144
HP:0001574	Abnormality of the integument	4436	MSH2	ORPHA:144
HP:0001574	Abnormality of the integument	641	BLM	ORPHA:125
HP:0001574	Abnormality of the integument	10483	SEC23B	ORPHA:201
HP:0001574	Abnormality of the integument	5728	PTEN	ORPHA:201
HP:0001574	Abnormality of the integument	6390	SDHB	ORPHA:201
HP:0001574	Abnormality of the integument	6392	SDHD	ORPHA:201
HP:0001574	Abnormality of the integument	6391	SDHC	ORPHA:201
HP:0001574	Abnormality of the integument	205717	USF3	ORPHA:201
HP:0001574	Abnormality of the integument	100144748	KLLN	ORPHA:201
HP:0001574	Abnormality of the integument	8943	AP3D1	ORPHA:54
HP:0001574	Abnormality of the integument	4935	GPR143	ORPHA:54
HP:0001574	Abnormality of the integument	404672	GTF2H5	OMIM:616395
HP:0001574	Abnormality of the integument	1540	CYLD	OMIM:132700
HP:0001574	Abnormality of the integument	51360	MBTPS2	ORPHA:659
HP:0001574	Abnormality of the integument	162514	TRPV3	ORPHA:659
HP:0001574	Abnormality of the integument	64065	PERP	ORPHA:659
HP:0001574	Abnormality of the integument	2697	GJA1	ORPHA:317
HP:0001574	Abnormality of the integument	2707	GJB3	ORPHA:317
HP:0001574	Abnormality of the integument	2531	KDSR	ORPHA:317
HP:0001574	Abnormality of the integument	127534	GJB4	ORPHA:317
HP:0001574	Abnormality of the integument	2324	FLT4	ORPHA:79452
HP:0001574	Abnormality of the integument	9780	PIEZO1	ORPHA:79452
HP:0001574	Abnormality of the integument	285	ANGPT2	ORPHA:79452
HP:0001574	Abnormality of the integument	57165	GJC2	ORPHA:79452
HP:0001574	Abnormality of the integument	4000	LMNA	ORPHA:79474
HP:0001574	Abnormality of the integument	1277	COL1A1	ORPHA:31112
HP:0001574	Abnormality of the integument	7390	UROS	ORPHA:79277
HP:0001574	Abnormality of the integument	2623	GATA1	ORPHA:79277
HP:0001574	Abnormality of the integument	4437	MSH3	ORPHA:480536
HP:0001574	Abnormality of the integument	4952	OCRL	ORPHA:534
HP:0001574	Abnormality of the integument	6591	SNAI2	ORPHA:2884
HP:0001574	Abnormality of the integument	3815	KIT	ORPHA:2884
HP:0001574	Abnormality of the integument	51151	SLC45A2	ORPHA:79435
HP:0001574	Abnormality of the integument	1075	CTSC	ORPHA:678
HP:0001574	Abnormality of the integument	64682	ANAPC1	ORPHA:221008
HP:0001574	Abnormality of the integument	81857	MED25	OMIM:616449
HP:0001574	Abnormality of the integument	89910	UBE3B	OMIM:244450
HP:0001574	Abnormality of the integument	54543	TOMM7	OMIM:620601
HP:0001574	Abnormality of the integument	8550	MAPKAPK5	OMIM:619869
HP:0001574	Abnormality of the integument	55623	THUMPD1	OMIM:619989
HP:0001574	Abnormality of the integument	5631	PRPS1	OMIM:300661
HP:0001574	Abnormality of the integument	63035	BCORL1	OMIM:301029
HP:0001574	Abnormality of the integument	10265	IRX5	OMIM:611174
HP:0001574	Abnormality of the integument	4700	NDUFA6	OMIM:618253
HP:0001574	Abnormality of the integument	79827	CLMP	ORPHA:2301
HP:0001574	Abnormality of the integument	490	ATP2B1	OMIM:619910
HP:0001574	Abnormality of the integument	4329	ALDH6A1	OMIM:614105
HP:0001574	Abnormality of the integument	5557	PRIM1	OMIM:620005
HP:0001574	Abnormality of the integument	9757	KMT2B	OMIM:619934
HP:0001574	Abnormality of the integument	84081	NSRP1	OMIM:620001
HP:0001574	Abnormality of the integument	23404	EXOSC2	OMIM:617763
HP:0001574	Abnormality of the integument	55697	VAC14	ORPHA:3472
HP:0001574	Abnormality of the integument	90416	CCDC32	OMIM:619123
HP:0001574	Abnormality of the integument	22930	RAB3GAP1	ORPHA:1387
HP:0001574	Abnormality of the integument	25782	RAB3GAP2	ORPHA:1387
HP:0001574	Abnormality of the integument	25782	RAB3GAP2	OMIM:212720
HP:0001574	Abnormality of the integument	7372	UMPS	ORPHA:30
HP:0001574	Abnormality of the integument	860	RUNX2	ORPHA:1452
HP:0001574	Abnormality of the integument	4791	NFKB2	ORPHA:293978
HP:0001574	Abnormality of the integument	4047	LSS	ORPHA:1366
HP:0001574	Abnormality of the integument	10084	PQBP1	ORPHA:93947
HP:0001574	Abnormality of the integument	977	CD151	OMIM:609057
HP:0001574	Abnormality of the integument	10616	RBCK1	OMIM:615895
HP:0001574	Abnormality of the integument	340061	STING1	OMIM:615934
HP:0001574	Abnormality of the integument	284654	RSPO1	OMIM:610644
HP:0001574	Abnormality of the integument	8456	FOXN1	OMIM:618806
HP:0001574	Abnormality of the integument	8456	FOXN1	OMIM:601705
HP:0001574	Abnormality of the integument	51371	POMP	OMIM:601952
HP:0001574	Abnormality of the integument	134218	DNAJC21	OMIM:617052
HP:0001574	Abnormality of the integument	8085	KMT2D	OMIM:620186
HP:0001574	Abnormality of the integument	6117	RPA1	OMIM:619767
HP:0001574	Abnormality of the integument	4094	MAF	OMIM:601088
HP:0001574	Abnormality of the integument	7157	TP53	OMIM:618165
HP:0001574	Abnormality of the integument	79977	GRHL2	OMIM:616029
HP:0001574	Abnormality of the integument	92345	NAF1	OMIM:620365
HP:0001574	Abnormality of the integument	64858	DCLRE1B	OMIM:620133
HP:0001574	Abnormality of the integument	7037	TFRC	OMIM:616740
HP:0001574	Abnormality of the integument	3932	LCK	OMIM:615758
HP:0001574	Abnormality of the integument	959	CD40LG	OMIM:308230
HP:0001574	Abnormality of the integument	51311	TLR8	OMIM:301078
HP:0001574	Abnormality of the integument	11151	CORO1A	OMIM:615401
HP:0001574	Abnormality of the integument	1794	DOCK2	OMIM:616433
HP:0001574	Abnormality of the integument	5824	PEX19	OMIM:614886
HP:0001574	Abnormality of the integument	51004	COQ6	ORPHA:93921
HP:0001574	Abnormality of the integument	8216	LZTR1	ORPHA:93921
HP:0001574	Abnormality of the integument	1777	DNASE2	OMIM:619858
HP:0001574	Abnormality of the integument	713	C1QB	OMIM:620321
HP:0001574	Abnormality of the integument	3458	IFNG	OMIM:613254
HP:0001574	Abnormality of the integument	7249	TSC2	OMIM:613254
HP:0001574	Abnormality of the integument	7248	TSC1	OMIM:191100
HP:0001574	Abnormality of the integument	3872	KRT17	ORPHA:841
HP:0001574	Abnormality of the integument	1748	DLX4	OMIM:616788
HP:0001574	Abnormality of the integument	9928	KIF14	OMIM:616258
HP:0001574	Abnormality of the integument	92579	G6PC3	OMIM:612541
HP:0001574	Abnormality of the integument	22806	IKZF3	OMIM:619437
HP:0001574	Abnormality of the integument	11107	PRDM5	ORPHA:90354
HP:0001574	Abnormality of the integument	84627	ZNF469	ORPHA:90354
HP:0001574	Abnormality of the integument	367	AR	ORPHA:90797
HP:0001574	Abnormality of the integument	29893	PSMC3IP	ORPHA:243
HP:0001574	Abnormality of the integument	171568	POLR3H	ORPHA:243
HP:0001574	Abnormality of the integument	2516	NR5A1	ORPHA:243
HP:0001574	Abnormality of the integument	125150	ZSWIM7	ORPHA:243
HP:0001574	Abnormality of the integument	9210	BMP15	ORPHA:243
HP:0001574	Abnormality of the integument	57122	NUP107	ORPHA:243
HP:0001574	Abnormality of the integument	23514	SPIDR	ORPHA:243
HP:0001574	Abnormality of the integument	2492	FSHR	ORPHA:243
HP:0001574	Abnormality of the integument	56945	MRPS22	ORPHA:243
HP:0001574	Abnormality of the integument	646	BNC1	ORPHA:243
HP:0001574	Abnormality of the integument	4438	MSH4	ORPHA:243
HP:0001574	Abnormality of the integument	5626	PROP1	ORPHA:95494
HP:0001574	Abnormality of the integument	5626	PROP1	ORPHA:90695
HP:0001574	Abnormality of the integument	2736	GLI2	ORPHA:95494
HP:0001574	Abnormality of the integument	89884	LHX4	ORPHA:95494
HP:0001574	Abnormality of the integument	3170	FOXA2	ORPHA:95494
HP:0001574	Abnormality of the integument	5449	POU1F1	ORPHA:95494
HP:0001574	Abnormality of the integument	9653	HS2ST1	OMIM:619194
HP:0001574	Abnormality of the integument	104	ADARB1	OMIM:618862
HP:0001574	Abnormality of the integument	3703	STT3A	OMIM:619714
HP:0001574	Abnormality of the integument	79228	THOC6	ORPHA:363444
HP:0001574	Abnormality of the integument	79228	THOC6	OMIM:613680
HP:0001574	Abnormality of the integument	84679	SLC9A7	OMIM:301024
HP:0001574	Abnormality of the integument	4858	NOVA2	OMIM:618859
HP:0001574	Abnormality of the integument	26057	ANKRD17	OMIM:619504
HP:0001574	Abnormality of the integument	6913	TBX15	OMIM:260660
HP:0001574	Abnormality of the integument	92949	ADAMTSL1	ORPHA:521445
HP:0001574	Abnormality of the integument	22884	WDR37	OMIM:618652
HP:0001574	Abnormality of the integument	54820	NDE1	OMIM:605013
HP:0001574	Abnormality of the integument	286053	NSMCE2	OMIM:617253
HP:0001574	Abnormality of the integument	344167	FOXI3	OMIM:620444
HP:0001574	Abnormality of the integument	2248	FGF3	ORPHA:90024
HP:0001574	Abnormality of the integument	2248	FGF3	OMIM:610706
HP:0001574	Abnormality of the integument	22827	PUF60	ORPHA:508488
HP:0001574	Abnormality of the integument	126792	B3GALT6	ORPHA:536467
HP:0001574	Abnormality of the integument	126792	B3GALT6	OMIM:615349
HP:0001574	Abnormality of the integument	54914	FOCAD	OMIM:619991
HP:0001574	Abnormality of the integument	2006	ELN	ORPHA:90348
HP:0001574	Abnormality of the integument	10516	FBLN5	ORPHA:90348
HP:0001574	Abnormality of the integument	5832	ALDH18A1	ORPHA:90348
HP:0001574	Abnormality of the integument	5832	ALDH18A1	OMIM:616603
HP:0001574	Abnormality of the integument	4088	SMAD3	OMIM:613795
HP:0001574	Abnormality of the integument	5831	PYCR1	OMIM:612940
HP:0001574	Abnormality of the integument	5831	PYCR1	OMIM:614438
HP:0001574	Abnormality of the integument	4087	SMAD2	OMIM:619656
HP:0001574	Abnormality of the integument	3376	IARS1	ORPHA:541423
HP:0001574	Abnormality of the integument	2202	EFEMP1	OMIM:620780
HP:0001574	Abnormality of the integument	1105	CHD1	OMIM:617682
HP:0001574	Abnormality of the integument	1105	CHD1	ORPHA:529965
HP:0001574	Abnormality of the integument	9509	ADAMTS2	OMIM:225410
HP:0001574	Abnormality of the integument	1278	COL1A2	OMIM:619120
HP:0001574	Abnormality of the integument	30008	EFEMP2	OMIM:614437
HP:0001574	Abnormality of the integument	5500	PPP1CB	OMIM:617506
HP:0001574	Abnormality of the integument	27145	FILIP1	OMIM:620775
HP:0001574	Abnormality of the integument	1289	COL5A1	OMIM:619329
HP:0001574	Abnormality of the integument	191	AHCY	ORPHA:88618
HP:0001574	Abnormality of the integument	10161	LPAR6	ORPHA:170
HP:0001574	Abnormality of the integument	147183	KRT25	ORPHA:170
HP:0001574	Abnormality of the integument	1947	EFNB1	ORPHA:1520
HP:0001574	Abnormality of the integument	26227	PHGDH	ORPHA:79351
HP:0001574	Abnormality of the integument	84181	CHD6	ORPHA:2108
HP:0001574	Abnormality of the integument	23545	ATP6V0A2	OMIM:219200
HP:0001574	Abnormality of the integument	7291	TWIST1	ORPHA:794
HP:0001574	Abnormality of the integument	2261	FGFR3	ORPHA:794
HP:0001574	Abnormality of the integument	341640	FREM2	ORPHA:2052
HP:0001574	Abnormality of the integument	80144	FRAS1	ORPHA:2052
HP:0001574	Abnormality of the integument	23426	GRIP1	ORPHA:2052
HP:0001574	Abnormality of the integument	29123	ANKRD11	ORPHA:2332
HP:0001574	Abnormality of the integument	29123	ANKRD11	ORPHA:261250
HP:0001574	Abnormality of the integument	158326	FREM1	ORPHA:2717
HP:0001574	Abnormality of the integument	10225	CD96	ORPHA:1308
HP:0001574	Abnormality of the integument	6595	SMARCA2	ORPHA:3051
HP:0001574	Abnormality of the integument	6812	STXBP1	ORPHA:495818
HP:0001574	Abnormality of the integument	8450	CUL4B	ORPHA:85293
HP:0001574	Abnormality of the integument	54499	TMCO1	ORPHA:1394
HP:0001574	Abnormality of the integument	8241	RBM10	ORPHA:2886
HP:0001574	Abnormality of the integument	5518	PPP2R1A	ORPHA:457284
HP:0001574	Abnormality of the integument	5518	PPP2R1A	OMIM:616362
HP:0001574	Abnormality of the integument	129563	DIS3L2	ORPHA:2849
HP:0001574	Abnormality of the integument	92482	BBIP1	ORPHA:110
HP:0001574	Abnormality of the integument	11020	IFT27	ORPHA:110
HP:0001574	Abnormality of the integument	582	BBS1	ORPHA:110
HP:0001574	Abnormality of the integument	49855	SCAPER	ORPHA:110
HP:0001574	Abnormality of the integument	51057	WDPCP	ORPHA:110
HP:0001574	Abnormality of the integument	132320	SCLT1	ORPHA:110
HP:0001574	Abnormality of the integument	27241	BBS9	ORPHA:110
HP:0001574	Abnormality of the integument	84984	CEP19	ORPHA:110
HP:0001574	Abnormality of the integument	22954	TRIM32	ORPHA:110
HP:0001574	Abnormality of the integument	79738	BBS10	ORPHA:110
HP:0001574	Abnormality of the integument	26160	IFT172	ORPHA:110
HP:0001574	Abnormality of the integument	583	BBS2	ORPHA:110
HP:0001574	Abnormality of the integument	585	BBS4	ORPHA:110
HP:0001574	Abnormality of the integument	8195	MKKS	ORPHA:110
HP:0001574	Abnormality of the integument	54585	LZTFL1	ORPHA:110
HP:0001574	Abnormality of the integument	55212	BBS7	ORPHA:110
HP:0001574	Abnormality of the integument	166379	BBS12	ORPHA:110
HP:0001574	Abnormality of the integument	10806	SDCCAG8	ORPHA:110
HP:0001574	Abnormality of the integument	157657	CFAP418	ORPHA:110
HP:0001574	Abnormality of the integument	84100	ARL6	ORPHA:110
HP:0001574	Abnormality of the integument	129880	BBS5	ORPHA:110
HP:0001574	Abnormality of the integument	54840	APTX	ORPHA:1168
HP:0001574	Abnormality of the integument	55906	ZC4H2	OMIM:314580
HP:0001574	Abnormality of the integument	6662	SOX9	ORPHA:140
HP:0001574	Abnormality of the integument	65267	WNK3	OMIM:309610
HP:0001574	Abnormality of the integument	55681	SCYL2	ORPHA:1143
HP:0001574	Abnormality of the integument	84570	COL25A1	ORPHA:1143
HP:0001574	Abnormality of the integument	57222	ERGIC1	ORPHA:1143
HP:0001574	Abnormality of the integument	471	ATIC	OMIM:608688
HP:0001574	Abnormality of the integument	56984	PSMG2	OMIM:619183
HP:0001574	Abnormality of the integument	2752	GLUL	OMIM:610015
HP:0001574	Abnormality of the integument	3115	HLA-DPB1	ORPHA:133
HP:0001574	Abnormality of the integument	5551	PRF1	ORPHA:540
HP:0001574	Abnormality of the integument	8676	STX11	ORPHA:540
HP:0001574	Abnormality of the integument	201294	UNC13D	ORPHA:540
HP:0001574	Abnormality of the integument	6813	STXBP2	ORPHA:540
HP:0001574	Abnormality of the integument	5083	PAX9	OMIM:604625
HP:0001574	Abnormality of the integument	171023	ASXL1	ORPHA:98850
HP:0001574	Abnormality of the integument	54790	TET2	ORPHA:98850
HP:0001574	Abnormality of the integument	867	CBL	ORPHA:98850
HP:0001574	Abnormality of the integument	861	RUNX1	ORPHA:98850
HP:0001574	Abnormality of the integument	6427	SRSF2	ORPHA:98850
HP:0001574	Abnormality of the integument	210	ALAD	ORPHA:100924
HP:0001574	Abnormality of the integument	1294	COL7A1	ORPHA:158676
HP:0001574	Abnormality of the integument	112802	KRT71	OMIM:615896
HP:0001574	Abnormality of the integument	9652	SKIC3	ORPHA:84064
HP:0001574	Abnormality of the integument	6499	SKIC2	ORPHA:84064
HP:0001574	Abnormality of the integument	5333	PLCD1	OMIM:151600
HP:0001574	Abnormality of the integument	1371	CPOX	ORPHA:79273
HP:0001574	Abnormality of the integument	6792	CDKL5	ORPHA:3451
HP:0001574	Abnormality of the integument	221692	PHACTR1	ORPHA:3451
HP:0001574	Abnormality of the integument	6487	ST3GAL3	ORPHA:3451
HP:0001574	Abnormality of the integument	10695	CNPY3	ORPHA:3451
HP:0001574	Abnormality of the integument	23236	PLCB1	ORPHA:3451
HP:0001574	Abnormality of the integument	150094	SIK1	ORPHA:3451
HP:0001574	Abnormality of the integument	6709	SPTAN1	ORPHA:3451
HP:0001574	Abnormality of the integument	60558	GUF1	ORPHA:3451
HP:0001574	Abnormality of the integument	170302	ARX	ORPHA:3451
HP:0001574	Abnormality of the integument	6326	SCN2A	ORPHA:3451
HP:0001574	Abnormality of the integument	11152	WDR45	ORPHA:3451
HP:0001574	Abnormality of the integument	2904	GRIN2B	ORPHA:3451
HP:0001574	Abnormality of the integument	5277	PIGA	ORPHA:3451
HP:0001574	Abnormality of the integument	4915	NTRK2	ORPHA:3451
HP:0001574	Abnormality of the integument	3145	HMBS	ORPHA:79276
HP:0001574	Abnormality of the integument	56244	BTNL2	ORPHA:797
HP:0001574	Abnormality of the integument	79053	ALG8	ORPHA:79325
HP:0001574	Abnormality of the integument	9663	LPIN2	OMIM:609628
HP:0001574	Abnormality of the integument	9663	LPIN2	ORPHA:77297
HP:0001574	Abnormality of the integument	6772	STAT1	ORPHA:391487
HP:0001574	Abnormality of the integument	29110	TBK1	OMIM:620880
HP:0001574	Abnormality of the integument	37	ACADVL	ORPHA:26793
HP:0001574	Abnormality of the integument	7317	UBA1	OMIM:301054
HP:0001574	Abnormality of the integument	57104	PNPLA2	ORPHA:565612
HP:0001574	Abnormality of the integument	57152	SLURP1	ORPHA:87503
HP:0001574	Abnormality of the integument	2683	B4GALT1	ORPHA:79332
HP:0001574	Abnormality of the integument	5898	RALA	OMIM:619311
HP:0001574	Abnormality of the integument	93986	FOXP2	ORPHA:209908
HP:0001574	Abnormality of the integument	23389	MED13L	ORPHA:369891
HP:0001574	Abnormality of the integument	6857	SYT1	ORPHA:522077
HP:0001574	Abnormality of the integument	26173	INTS1	OMIM:618571
HP:0001574	Abnormality of the integument	23097	CDK19	OMIM:618916
HP:0001574	Abnormality of the integument	8925	HERC1	ORPHA:457359
HP:0001574	Abnormality of the integument	1984	EIF5A	OMIM:619376
HP:0001574	Abnormality of the integument	6651	SON	OMIM:617140
HP:0001574	Abnormality of the integument	25871	NEPRO	OMIM:618853
HP:0001574	Abnormality of the integument	6659	SOX4	ORPHA:1465
HP:0001574	Abnormality of the integument	5977	DPF2	ORPHA:1465
HP:0001574	Abnormality of the integument	6602	SMARCD1	ORPHA:1465
HP:0001574	Abnormality of the integument	196528	ARID2	ORPHA:1465
HP:0001574	Abnormality of the integument	29920	PYCR2	OMIM:616420
HP:0001574	Abnormality of the integument	7543	ZFX	OMIM:301118
HP:0001574	Abnormality of the integument	11235	PDCD10	ORPHA:221061
HP:0001574	Abnormality of the integument	83605	CCM2	ORPHA:221061
HP:0001574	Abnormality of the integument	2050	EPHB4	ORPHA:137667
HP:0001574	Abnormality of the integument	175	AGA	ORPHA:93
HP:0001574	Abnormality of the integument	4758	NEU1	ORPHA:812
HP:0001574	Abnormality of the integument	4297	KMT2A	OMIM:605130
HP:0001574	Abnormality of the integument	3930	LBR	ORPHA:779
HP:0001574	Abnormality of the integument	6868	ADAM17	ORPHA:294023
HP:0001574	Abnormality of the integument	1956	EGFR	ORPHA:294023
HP:0001574	Abnormality of the integument	4323	MMP14	ORPHA:371428
HP:0001574	Abnormality of the integument	3423	IDS	ORPHA:217085
HP:0001574	Abnormality of the integument	3423	IDS	ORPHA:217093
HP:0001574	Abnormality of the integument	3939	LDHA	ORPHA:284426
HP:0001574	Abnormality of the integument	374969	SVBP	OMIM:618569
HP:0001574	Abnormality of the integument	435	ASL	ORPHA:23
HP:0001574	Abnormality of the integument	22800	RRAS2	ORPHA:648
HP:0001574	Abnormality of the integument	6016	RIT1	ORPHA:648
HP:0001574	Abnormality of the integument	6237	RRAS	ORPHA:648
HP:0001574	Abnormality of the integument	22808	MRAS	ORPHA:648
HP:0001574	Abnormality of the integument	5922	RASA2	ORPHA:648
HP:0001574	Abnormality of the integument	1500	CTNND1	ORPHA:1997
HP:0001574	Abnormality of the integument	999	CDH1	ORPHA:1997
HP:0001574	Abnormality of the integument	6097	RORC	OMIM:616622
HP:0001574	Abnormality of the integument	6418	SET	OMIM:618106
HP:0001574	Abnormality of the integument	5528	PPP2R5D	ORPHA:457279
HP:0001574	Abnormality of the integument	3854	KRT6B	OMIM:615728
HP:0001574	Abnormality of the integument	3854	KRT6B	ORPHA:2309
HP:0001574	Abnormality of the integument	3868	KRT16	ORPHA:2309
HP:0001574	Abnormality of the integument	3853	KRT6A	ORPHA:2309
HP:0001574	Abnormality of the integument	7852	CXCR4	ORPHA:51636
HP:0001574	Abnormality of the integument	6794	STK11	OMIM:155600
HP:0001574	Abnormality of the integument	5663	PSEN1	OMIM:613737
HP:0001574	Abnormality of the integument	2775	GNAO1	ORPHA:1934
HP:0001574	Abnormality of the integument	2902	GRIN1	ORPHA:1934
HP:0001574	Abnormality of the integument	79751	SLC25A22	ORPHA:1934
HP:0001574	Abnormality of the integument	2917	GRM7	ORPHA:1934
HP:0001574	Abnormality of the integument	51227	PIGP	ORPHA:1934
HP:0001574	Abnormality of the integument	4761	NEUROD2	ORPHA:1934
HP:0001574	Abnormality of the integument	50485	SMARCAL1	OMIM:242900
HP:0001574	Abnormality of the integument	7132	TNFRSF1A	ORPHA:32960
HP:0001574	Abnormality of the integument	102	ADAM10	OMIM:615537
HP:0001574	Abnormality of the integument	7507	XPA	ORPHA:910
HP:0001574	Abnormality of the integument	3587	IL10RA	OMIM:613148
HP:0001574	Abnormality of the integument	3588	IL10RB	OMIM:612567
HP:0001574	Abnormality of the integument	3557	IL1RN	OMIM:612852
HP:0001574	Abnormality of the integument	50814	NSDHL	OMIM:308050
HP:0001574	Abnormality of the integument	5271	SERPINB8	OMIM:617115
HP:0001574	Abnormality of the integument	286887	KRT6C	OMIM:615735
HP:0001574	Abnormality of the integument	3860	KRT13	OMIM:615785
HP:0001574	Abnormality of the integument	55252	ASXL2	OMIM:617190
HP:0001574	Abnormality of the integument	440275	EIF2AK4	ORPHA:199241
HP:0001574	Abnormality of the integument	10617	STAMBP	OMIM:614261
HP:0001574	Abnormality of the integument	545	ATR	OMIM:614564
HP:0001574	Abnormality of the integument	523	ATP6V1A	ORPHA:357074
HP:0001574	Abnormality of the integument	529	ATP6V1E1	ORPHA:357074
HP:0001574	Abnormality of the integument	3110	MNX1	ORPHA:1552
HP:0001574	Abnormality of the integument	4488	MSX2	OMIM:168550
HP:0001574	Abnormality of the integument	23529	CLCF1	OMIM:610313
HP:0001574	Abnormality of the integument	55975	KLHL7	OMIM:617055
HP:0001574	Abnormality of the integument	9948	WDR1	OMIM:150550
HP:0001574	Abnormality of the integument	79796	ALG9	OMIM:608776
HP:0001574	Abnormality of the integument	55315	SLC29A3	ORPHA:168569
HP:0001574	Abnormality of the integument	5696	PSMB8	OMIM:256040
HP:0001574	Abnormality of the integument	120766137	HRURF	OMIM:146550
HP:0001574	Abnormality of the integument	284	ANGPT1	OMIM:619361
HP:0001574	Abnormality of the integument	26509	MYOF	OMIM:619366
HP:0001574	Abnormality of the integument	2778	GNAS	ORPHA:562
HP:0001574	Abnormality of the integument	50940	PDE11A	ORPHA:1359
HP:0001574	Abnormality of the integument	1387	CREBBP	ORPHA:353281
HP:0001574	Abnormality of the integument	1387	CREBBP	ORPHA:353277
HP:0001574	Abnormality of the integument	7403	KDM6A	ORPHA:2322
HP:0001574	Abnormality of the integument	2033	EP300	ORPHA:353284
HP:0001574	Abnormality of the integument	8379	MAD1L1	OMIM:620189
HP:0001574	Abnormality of the integument	56980	PRDM10	OMIM:620459
HP:0001574	Abnormality of the integument	4693	NDP	ORPHA:891
HP:0001574	Abnormality of the integument	23554	TSPAN12	ORPHA:891
HP:0001574	Abnormality of the integument	79797	ZNF408	ORPHA:891
HP:0001574	Abnormality of the integument	8322	FZD4	ORPHA:891
HP:0001574	Abnormality of the integument	2642	GCGR	ORPHA:438274
HP:0001574	Abnormality of the integument	139818	DOCK11	OMIM:301109
HP:0001574	Abnormality of the integument	4128	MAOA	OMIM:300615
HP:0001574	Abnormality of the integument	30817	ADGRE2	OMIM:125630
HP:0001574	Abnormality of the integument	4035	LRP1	OMIM:604093
HP:0001574	Abnormality of the integument	64788	LMF1	OMIM:246650
HP:0001574	Abnormality of the integument	219972	MPEG1	OMIM:619223
HP:0001574	Abnormality of the integument	3551	IKBKB	OMIM:618204
HP:0001574	Abnormality of the integument	56983	POGLUT1	ORPHA:79145
HP:0001574	Abnormality of the integument	3852	KRT5	ORPHA:79145
HP:0001574	Abnormality of the integument	23509	POFUT1	ORPHA:79145
HP:0001574	Abnormality of the integument	7535	ZAP70	OMIM:617006
HP:0001574	Abnormality of the integument	8710	SERPINB7	OMIM:615598
HP:0001574	Abnormality of the integument	8036	SHOC2	OMIM:607721
HP:0001574	Abnormality of the integument	4141	MARS1	OMIM:619692
HP:0001574	Abnormality of the integument	79755	ZNF750	OMIM:610227
HP:0001574	Abnormality of the integument	6720	SREBF1	OMIM:158310
HP:0001574	Abnormality of the integument	1291	COL6A1	OMIM:158810
HP:0001574	Abnormality of the integument	1291	COL6A1	ORPHA:610
HP:0001574	Abnormality of the integument	341208	HEPHL1	OMIM:261990
HP:0001574	Abnormality of the integument	7286	TUFT1	OMIM:620415
HP:0001574	Abnormality of the integument	6655	SOS2	OMIM:616559
HP:0001574	Abnormality of the integument	6654	SOS1	OMIM:610733
HP:0001574	Abnormality of the integument	1292	COL6A2	ORPHA:610
HP:0001574	Abnormality of the integument	1293	COL6A3	ORPHA:610
HP:0001574	Abnormality of the integument	3071	NCKAP1L	OMIM:618982
HP:0001574	Abnormality of the integument	399	RHOH	OMIM:618307
HP:0001574	Abnormality of the integument	920	CD4	OMIM:619238
HP:0001574	Abnormality of the integument	23308	ICOSLG	OMIM:620825
HP:0001574	Abnormality of the integument	64170	CARD9	OMIM:212050
HP:0001574	Abnormality of the integument	81575	APOLD1	OMIM:620715
HP:0001574	Abnormality of the integument	23590	PDSS1	OMIM:614651
HP:0001574	Abnormality of the integument	3659	IRF1	OMIM:620668
HP:0001574	Abnormality of the integument	171019	ADAMTS19	OMIM:620067
HP:0001574	Abnormality of the integument	7046	TGFBR1	OMIM:609192
HP:0001574	Abnormality of the integument	7046	TGFBR1	OMIM:132800
HP:0001574	Abnormality of the integument	5950	RBP4	OMIM:615147
HP:0001574	Abnormality of the integument	7174	TPP2	OMIM:619220
HP:0001574	Abnormality of the integument	57169	ZNFX1	OMIM:619644
HP:0001574	Abnormality of the integument	4358	MPV17	OMIM:256810
HP:0001574	Abnormality of the integument	3559	IL2RA	OMIM:606367
HP:0001574	Abnormality of the integument	23581	CASP14	OMIM:617320
HP:0001574	Abnormality of the integument	5934	RBL2	OMIM:619690
HP:0001574	Abnormality of the integument	8812	CCNK	OMIM:618147
HP:0001574	Abnormality of the integument	8318	CDC45	OMIM:617063
HP:0001574	Abnormality of the integument	10157	AASS	ORPHA:2203
HP:0001574	Abnormality of the integument	3020	H3-3A	OMIM:619720
HP:0001574	Abnormality of the integument	4781	NFIB	OMIM:618286
HP:0001574	Abnormality of the integument	57822	GRHL3	OMIM:606713
HP:0001574	Abnormality of the integument	57822	GRHL3	ORPHA:888
HP:0001574	Abnormality of the integument	1410	CRYAB	OMIM:608810
HP:0001574	Abnormality of the integument	3514	IGKC	ORPHA:183675
HP:0001574	Abnormality of the integument	3501	IGHG2	ORPHA:183675
HP:0001574	Abnormality of the integument	64711	HS3ST6	OMIM:619367
HP:0001574	Abnormality of the integument	3827	KNG1	OMIM:619363
HP:0001574	Abnormality of the integument	2161	F12	OMIM:610618
HP:0001574	Abnormality of the integument	10466	COG5	ORPHA:263487
HP:0001574	Abnormality of the integument	51116	MRPS2	OMIM:617950
HP:0001574	Abnormality of the integument	1861	TOR1A	OMIM:618947
HP:0001574	Abnormality of the integument	1173	AP2M1	ORPHA:1942
HP:0001574	Abnormality of the integument	340533	NEXMIF	ORPHA:1942
HP:0001574	Abnormality of the integument	1106	CHD2	ORPHA:1942
HP:0001574	Abnormality of the integument	6529	SLC6A1	ORPHA:1942
HP:0001574	Abnormality of the integument	4052	LTBP1	ORPHA:90349
HP:0001574	Abnormality of the integument	3122	HLA-DRA	ORPHA:505
HP:0001574	Abnormality of the integument	6786	STIM1	OMIM:612783
HP:0001574	Abnormality of the integument	2186	BPTF	OMIM:148000
HP:0001574	Abnormality of the integument	3569	IL6	OMIM:148000
HP:0001574	Abnormality of the integument	7293	TNFRSF4	OMIM:615593
HP:0001574	Abnormality of the integument	27032	ATP2C1	ORPHA:2841
HP:0001574	Abnormality of the integument	7424	VEGFC	OMIM:615907
HP:0001574	Abnormality of the integument	3590	IL11RA	OMIM:614188
HP:0001574	Abnormality of the integument	815	CAMK2A	OMIM:617798
HP:0001574	Abnormality of the integument	5396	PRRX1	ORPHA:990
HP:0001574	Abnormality of the integument	197	AHSG	ORPHA:2850
HP:0001574	Abnormality of the integument	3694	ITGB6	ORPHA:2850
HP:0001574	Abnormality of the integument	10262	SF3B4	ORPHA:245
HP:0001574	Abnormality of the integument	3554	IL1R1	OMIM:259680
HP:0001574	Abnormality of the integument	79718	TBL1XR1	ORPHA:487825
HP:0001574	Abnormality of the integument	25839	COG4	ORPHA:263501
HP:0001574	Abnormality of the integument	25839	COG4	OMIM:613489
HP:0001574	Abnormality of the integument	4750	NEK1	ORPHA:2751
HP:0001574	Abnormality of the integument	137682	NDUFAF6	OMIM:618239
HP:0001574	Abnormality of the integument	7253	TSHR	OMIM:609152
HP:0001574	Abnormality of the integument	3055	HCK	OMIM:620296
HP:0001574	Abnormality of the integument	2677	GGCX	ORPHA:436274
HP:0001574	Abnormality of the integument	2677	GGCX	ORPHA:91135
HP:0001574	Abnormality of the integument	5657	PRTN3	ORPHA:900
HP:0001574	Abnormality of the integument	3113	HLA-DPA1	ORPHA:900
HP:0001574	Abnormality of the integument	2776	GNAQ	ORPHA:624
HP:0001574	Abnormality of the integument	427	ASAH1	ORPHA:2590
HP:0001574	Abnormality of the integument	596	BCL2	ORPHA:545
HP:0001574	Abnormality of the integument	604	BCL6	ORPHA:545
HP:0001574	Abnormality of the integument	6340	SCNN1G	ORPHA:171876
HP:0001574	Abnormality of the integument	6337	SCNN1A	ORPHA:171876
HP:0001574	Abnormality of the integument	6338	SCNN1B	ORPHA:171876
HP:0001574	Abnormality of the integument	128240	NAXE	OMIM:617186
HP:0001574	Abnormality of the integument	1280	COL2A1	ORPHA:85198
HP:0001574	Abnormality of the integument	5238	PGM3	ORPHA:443811
HP:0001574	Abnormality of the integument	6890	TAP1	OMIM:604571
HP:0001574	Abnormality of the integument	9790	BMS1	ORPHA:1114
HP:0001574	Abnormality of the integument	10054	UBA2	ORPHA:1114
HP:0001574	Abnormality of the integument	5745	PTH1R	ORPHA:296
HP:0001574	Abnormality of the integument	3418	IDH2	ORPHA:296
HP:0001574	Abnormality of the integument	6573	SLC19A1	OMIM:620603
HP:0001574	Abnormality of the integument	2995	GYPC	ORPHA:288
HP:0001574	Abnormality of the integument	2632	GBE1	ORPHA:206583
HP:0001574	Abnormality of the integument	22948	CCT5	ORPHA:139578
HP:0001574	Abnormality of the integument	7454	WAS	ORPHA:906
HP:0001574	Abnormality of the integument	7456	WIPF1	ORPHA:906
HP:0001574	Abnormality of the integument	84868	HAVCR2	ORPHA:86884
HP:0001574	Abnormality of the integument	3593	IL12B	ORPHA:3287
HP:0001574	Abnormality of the integument	6945	MLX	ORPHA:3287
HP:0001574	Abnormality of the integument	9051	PSTPIP1	ORPHA:69126
HP:0001574	Abnormality of the integument	204	AK2	ORPHA:33355
HP:0001574	Abnormality of the integument	146206	CARMIL2	OMIM:618131
HP:0001574	Abnormality of the integument	8547	FCN3	OMIM:613860
HP:0001574	Abnormality of the integument	10625	IVNS1ABP	OMIM:618969
HP:0001574	Abnormality of the integument	55072	RNF31	OMIM:620632
HP:0001574	Abnormality of the integument	29927	SEC61A1	OMIM:620674
HP:0001574	Abnormality of the integument	54440	SASH3	OMIM:301082
HP:0001574	Abnormality of the integument	6789	STK4	OMIM:614868
HP:0001574	Abnormality of the integument	6929	TCF3	ORPHA:33110
HP:0001574	Abnormality of the integument	7922	SLC39A7	ORPHA:33110
HP:0001574	Abnormality of the integument	973	CD79A	ORPHA:33110
HP:0001574	Abnormality of the integument	974	CD79B	ORPHA:33110
HP:0001574	Abnormality of the integument	6688	SPI1	ORPHA:33110
HP:0001574	Abnormality of the integument	3543	IGLL1	ORPHA:33110
HP:0001574	Abnormality of the integument	3507	IGHM	ORPHA:33110
HP:0001574	Abnormality of the integument	29760	BLNK	ORPHA:33110
HP:0001574	Abnormality of the integument	5295	PIK3R1	ORPHA:33110
HP:0001574	Abnormality of the integument	56262	LRRC8A	ORPHA:33110
HP:0001574	Abnormality of the integument	1830	DSG3	OMIM:619226
HP:0001574	Abnormality of the integument	6635	SNRPE	OMIM:615059
HP:0001574	Abnormality of the integument	1080	CFTR	OMIM:219700
HP:0001574	Abnormality of the integument	2212	FCGR2A	OMIM:219700
HP:0001574	Abnormality of the integument	7040	TGFB1	OMIM:219700
HP:0001574	Abnormality of the integument	1287	COL4A5	OMIM:301050
HP:0000712	Emotional lability	8518	ELP1	OMIM:223900
HP:0000712	Emotional lability	5621	PRNP	ORPHA:282166
HP:0000712	Emotional lability	5621	PRNP	ORPHA:280397
HP:0000712	Emotional lability	5621	PRNP	ORPHA:466
HP:0000712	Emotional lability	5621	PRNP	OMIM:137440
HP:0000712	Emotional lability	23111	SPART	OMIM:275900
HP:0000712	Emotional lability	23111	SPART	ORPHA:101000
HP:0000712	Emotional lability	8450	CUL4B	OMIM:300354
HP:0000712	Emotional lability	23314	SATB2	ORPHA:251028
HP:0000712	Emotional lability	2778	GNAS	OMIM:219080
HP:0000712	Emotional lability	2778	GNAS	ORPHA:189427
HP:0000712	Emotional lability	2767	GNA11	ORPHA:428
HP:0000712	Emotional lability	846	CASR	ORPHA:428
HP:0000712	Emotional lability	5428	POLG	OMIM:258450
HP:0000712	Emotional lability	5428	POLG	OMIM:607459
HP:0000712	Emotional lability	478	ATP1A3	OMIM:128235
HP:0000712	Emotional lability	478	ATP1A3	ORPHA:71517
HP:0000712	Emotional lability	478	ATP1A3	ORPHA:2131
HP:0000712	Emotional lability	55630	SLC39A4	ORPHA:37
HP:0000712	Emotional lability	55630	SLC39A4	OMIM:201100
HP:0000712	Emotional lability	2581	GALC	ORPHA:206443
HP:0000712	Emotional lability	1387	CREBBP	ORPHA:353281
HP:0000712	Emotional lability	1387	CREBBP	ORPHA:353277
HP:0000712	Emotional lability	8722	CTSF	OMIM:615362
HP:0000712	Emotional lability	23043	TNIK	OMIM:617028
HP:0000712	Emotional lability	50940	PDE11A	OMIM:610475
HP:0000712	Emotional lability	2033	EP300	ORPHA:353284
HP:0000712	Emotional lability	1644	DDC	OMIM:608643
HP:0000712	Emotional lability	410	ARSA	ORPHA:309271
HP:0000712	Emotional lability	410	ARSA	ORPHA:309263
HP:0000712	Emotional lability	410	ARSA	ORPHA:309256
HP:0000712	Emotional lability	410	ARSA	OMIM:250100
HP:0000712	Emotional lability	5660	PSAP	ORPHA:309271
HP:0000712	Emotional lability	5660	PSAP	ORPHA:309263
HP:0000712	Emotional lability	5660	PSAP	ORPHA:309256
HP:0000712	Emotional lability	84196	USP48	ORPHA:96253
HP:0000712	Emotional lability	7157	TP53	ORPHA:96253
HP:0000712	Emotional lability	9101	USP8	ORPHA:96253
HP:0000712	Emotional lability	9101	USP8	OMIM:219090
HP:0000712	Emotional lability	64072	CDH23	ORPHA:96253
HP:0000712	Emotional lability	2908	NR3C1	ORPHA:96253
HP:0000712	Emotional lability	673	BRAF	ORPHA:96253
HP:0000712	Emotional lability	546	ATRX	ORPHA:96253
HP:0000712	Emotional lability	4204	MECP2	OMIM:300055
HP:0000712	Emotional lability	1757	SARDH	ORPHA:3129
HP:0000712	Emotional lability	340024	SLC6A19	OMIM:234500
HP:0000712	Emotional lability	340024	SLC6A19	ORPHA:2116
HP:0000712	Emotional lability	10381	TUBB3	ORPHA:300570
HP:0000712	Emotional lability	3953	LEPR	OMIM:614963
HP:0000712	Emotional lability	3953	LEPR	ORPHA:179494
HP:0000712	Emotional lability	5573	PRKAR1A	OMIM:610489
HP:0000712	Emotional lability	10015	PDCD6IP	OMIM:620047
HP:0000712	Emotional lability	8398	PLA2G6	ORPHA:35069
HP:0000712	Emotional lability	8398	PLA2G6	OMIM:610217
HP:0000712	Emotional lability	2898	GRIK2	OMIM:619580
HP:0000712	Emotional lability	55149	MTPAP	ORPHA:254343
HP:0000712	Emotional lability	55149	MTPAP	OMIM:613672
HP:0000712	Emotional lability	5718	PSMD12	ORPHA:529962
HP:0000712	Emotional lability	2186	BPTF	ORPHA:529962
HP:0000712	Emotional lability	83636	C19orf12	OMIM:614298
HP:0000712	Emotional lability	6999	TDO2	OMIM:600627
HP:0000712	Emotional lability	80208	SPG11	ORPHA:2822
HP:0000712	Emotional lability	23230	VPS13A	ORPHA:2388
HP:0000712	Emotional lability	23230	VPS13A	OMIM:200150
HP:0000712	Emotional lability	4914	NTRK1	OMIM:256800
HP:0000712	Emotional lability	9049	AIP	OMIM:219090
HP:0000712	Emotional lability	2903	GRIN2A	ORPHA:98818
HP:0000712	Emotional lability	2903	GRIN2A	ORPHA:1945
HP:0000712	Emotional lability	10522	DEAF1	OMIM:615828
HP:0000712	Emotional lability	10522	DEAF1	OMIM:617171
HP:0000712	Emotional lability	10522	DEAF1	ORPHA:468620
HP:0000712	Emotional lability	64864	RFX7	OMIM:620330
HP:0000712	Emotional lability	5654	HTRA1	ORPHA:199354
HP:0000712	Emotional lability	2512	FTL	OMIM:606159
HP:0000712	Emotional lability	2512	FTL	ORPHA:157846
HP:0000712	Emotional lability	92482	BBIP1	ORPHA:110
HP:0000712	Emotional lability	80184	CEP290	ORPHA:110
HP:0000712	Emotional lability	11020	IFT27	ORPHA:110
HP:0000712	Emotional lability	582	BBS1	ORPHA:110
HP:0000712	Emotional lability	49855	SCAPER	ORPHA:110
HP:0000712	Emotional lability	4867	NPHP1	ORPHA:110
HP:0000712	Emotional lability	51057	WDPCP	ORPHA:110
HP:0000712	Emotional lability	132320	SCLT1	ORPHA:110
HP:0000712	Emotional lability	27241	BBS9	ORPHA:110
HP:0000712	Emotional lability	84984	CEP19	ORPHA:110
HP:0000712	Emotional lability	22954	TRIM32	ORPHA:110
HP:0000712	Emotional lability	54903	MKS1	ORPHA:110
HP:0000712	Emotional lability	79738	BBS10	ORPHA:110
HP:0000712	Emotional lability	123016	TTC8	ORPHA:110
HP:0000712	Emotional lability	26160	IFT172	ORPHA:110
HP:0000712	Emotional lability	583	BBS2	ORPHA:110
HP:0000712	Emotional lability	585	BBS4	ORPHA:110
HP:0000712	Emotional lability	8195	MKKS	ORPHA:110
HP:0000712	Emotional lability	54585	LZTFL1	ORPHA:110
HP:0000712	Emotional lability	55212	BBS7	ORPHA:110
HP:0000712	Emotional lability	166379	BBS12	ORPHA:110
HP:0000712	Emotional lability	10806	SDCCAG8	ORPHA:110
HP:0000712	Emotional lability	157657	CFAP418	ORPHA:110
HP:0000712	Emotional lability	84100	ARL6	ORPHA:110
HP:0000712	Emotional lability	129880	BBS5	ORPHA:110
HP:0000712	Emotional lability	80173	IFT74	ORPHA:110
HP:0000712	Emotional lability	7809	BSND	ORPHA:89938
HP:0000712	Emotional lability	1188	CLCNKB	ORPHA:89938
HP:0000712	Emotional lability	1187	CLCNKA	ORPHA:89938
HP:0000712	Emotional lability	388662	SLC6A17	ORPHA:457212
HP:0000712	Emotional lability	388662	SLC6A17	OMIM:616269
HP:0000712	Emotional lability	6711	SPTBN1	OMIM:619475
HP:0000712	Emotional lability	5566	PRKACA	OMIM:615830
HP:0000712	Emotional lability	7415	VCP	ORPHA:435387
HP:0000712	Emotional lability	7415	VCP	ORPHA:803
HP:0000712	Emotional lability	9968	MED12	OMIM:309520
HP:0000712	Emotional lability	8314	BAP1	ORPHA:2495
HP:0000712	Emotional lability	4771	NF2	ORPHA:2495
HP:0000712	Emotional lability	6598	SMARCB1	ORPHA:2495
HP:0000712	Emotional lability	5155	PDGFB	ORPHA:2495
HP:0000712	Emotional lability	84231	TRAF7	ORPHA:2495
HP:0000712	Emotional lability	6608	SMO	ORPHA:2495
HP:0000712	Emotional lability	207	AKT1	ORPHA:2495
HP:0000712	Emotional lability	5290	PIK3CA	ORPHA:2495
HP:0000712	Emotional lability	7015	TERT	ORPHA:2495
HP:0000712	Emotional lability	51684	SUFU	ORPHA:2495
HP:0000712	Emotional lability	6605	SMARCE1	ORPHA:2495
HP:0000712	Emotional lability	773	CACNA1A	ORPHA:2131
HP:0000712	Emotional lability	6507	SLC1A3	ORPHA:2131
HP:0000712	Emotional lability	477	ATP1A2	ORPHA:2131
HP:0000712	Emotional lability	378884	NHLRC1	ORPHA:501
HP:0000712	Emotional lability	7957	EPM2A	ORPHA:501
HP:0000712	Emotional lability	26576	SRPK3	OMIM:301134
HP:0000712	Emotional lability	23503	ZFYVE26	OMIM:270700
HP:0000712	Emotional lability	81887	LAS1L	ORPHA:3459
HP:0000712	Emotional lability	81887	LAS1L	OMIM:309585
HP:0000712	Emotional lability	55869	HDAC8	ORPHA:3459
HP:0000712	Emotional lability	79798	ARMC5	ORPHA:189427
HP:0000712	Emotional lability	23028	KDM1A	ORPHA:189427
HP:0000712	Emotional lability	54487	DGCR8	OMIM:192430
HP:0000712	Emotional lability	6899	TBX1	OMIM:192430
HP:0000712	Emotional lability	8214	DGCR6	OMIM:192430
HP:0000712	Emotional lability	8220	ESS2	OMIM:192430
HP:0000712	Emotional lability	9993	DGCR2	OMIM:192430
HP:0000712	Emotional lability	617	BCS1L	OMIM:124000
HP:0000712	Emotional lability	407975	MIR17HG	ORPHA:391646
HP:0000712	Emotional lability	4854	NOTCH3	ORPHA:136
HP:0000712	Emotional lability	80025	PANK2	ORPHA:216873
HP:0000712	Emotional lability	23162	MAPK8IP3	OMIM:618443
HP:0000712	Emotional lability	54941	RNF125	OMIM:616260
HP:0000712	Emotional lability	5230	PGK1	OMIM:300653
HP:0000712	Emotional lability	57393	CLTRN	ORPHA:2116
HP:0000712	Emotional lability	727676	SNORD118	ORPHA:542310
HP:0000712	Emotional lability	23435	TARDBP	OMIM:612069
HP:0000712	Emotional lability	23435	TARDBP	ORPHA:803
HP:0000712	Emotional lability	162417	NAGS	ORPHA:927
HP:0000712	Emotional lability	25978	CHMP2B	ORPHA:803
HP:0000712	Emotional lability	3178	HNRNPA1	ORPHA:803
HP:0000712	Emotional lability	8148	TAF15	ORPHA:803
HP:0000712	Emotional lability	5445	PON2	ORPHA:803
HP:0000712	Emotional lability	9217	VAPB	ORPHA:803
HP:0000712	Emotional lability	8878	SQSTM1	ORPHA:803
HP:0000712	Emotional lability	5630	PRPH	ORPHA:803
HP:0000712	Emotional lability	29110	TBK1	ORPHA:803
HP:0000712	Emotional lability	55830	GLT8D1	ORPHA:803
HP:0000712	Emotional lability	755	CFAP410	ORPHA:803
HP:0000712	Emotional lability	10891	PPARGC1A	ORPHA:803
HP:0000712	Emotional lability	6647	SOD1	ORPHA:803
HP:0000712	Emotional lability	10133	OPTN	ORPHA:803
HP:0000712	Emotional lability	1639	DCTN1	ORPHA:803
HP:0000712	Emotional lability	9896	FIG4	ORPHA:803
HP:0000712	Emotional lability	5444	PON1	ORPHA:803
HP:0000712	Emotional lability	5446	PON3	ORPHA:803
HP:0000712	Emotional lability	4744	NEFH	ORPHA:803
HP:0000712	Emotional lability	5216	PFN1	ORPHA:803
HP:0000712	Emotional lability	9782	MATR3	ORPHA:803
HP:0000712	Emotional lability	54209	TREM2	ORPHA:803
HP:0000712	Emotional lability	283	ANG	ORPHA:803
HP:0000712	Emotional lability	29978	UBQLN2	ORPHA:803
HP:0000712	Emotional lability	2733	GLE1	ORPHA:803
HP:0000712	Emotional lability	2521	FUS	ORPHA:803
HP:0000712	Emotional lability	4750	NEK1	ORPHA:803
HP:0000712	Emotional lability	6311	ATXN2	ORPHA:803
HP:0000712	Emotional lability	1610	DAO	ORPHA:803
HP:0000712	Emotional lability	2066	ERBB4	ORPHA:803
HP:0000712	Emotional lability	311	ANXA11	ORPHA:803
HP:0000712	Emotional lability	23025	UNC13A	ORPHA:803
HP:0000712	Emotional lability	899	CCNF	ORPHA:803
HP:0000712	Emotional lability	400916	CHCHD10	ORPHA:803
HP:0000712	Emotional lability	27286	SRPX2	ORPHA:1945
HP:0000712	Emotional lability	2566	GABRG2	ORPHA:1945
HP:0000712	Emotional lability	1967	EIF2B1	OMIM:603896
HP:0000712	Emotional lability	56652	TWNK	OMIM:607459
HP:0000712	Emotional lability	2328	FMO3	ORPHA:468726
HP:0000712	Emotional lability	2583	B4GALNT1	OMIM:609195
HP:0000712	Emotional lability	165918	RNF168	ORPHA:420741
HP:0000712	Emotional lability	3119	HLA-DQB1	OMIM:126200
HP:0000712	Emotional lability	3123	HLA-DRB1	OMIM:126200
HP:0001579	Primary hypercortisolism	5566	PRKACA	OMIM:615830
HP:0001579	Primary hypercortisolism	2778	GNAS	ORPHA:562
HP:0001579	Primary hypercortisolism	2778	GNAS	OMIM:219080
HP:0001579	Primary hypercortisolism	4221	MEN1	ORPHA:652
HP:0001579	Primary hypercortisolism	1027	CDKN1B	ORPHA:652
HP:0001579	Primary hypercortisolism	1026	CDKN1A	ORPHA:652
HP:0001579	Primary hypercortisolism	1030	CDKN2B	ORPHA:652
HP:0001579	Primary hypercortisolism	1031	CDKN2C	ORPHA:652
HP:0001579	Primary hypercortisolism	50940	PDE11A	OMIM:610475
HP:0001579	Primary hypercortisolism	5573	PRKAR1A	OMIM:610489
HP:0001580	Pigmented micronodular adrenocortical disease	50940	PDE11A	OMIM:610475
HP:0001580	Pigmented micronodular adrenocortical disease	50940	PDE11A	ORPHA:1359
HP:0001580	Pigmented micronodular adrenocortical disease	5573	PRKAR1A	OMIM:610489
HP:0001580	Pigmented micronodular adrenocortical disease	5573	PRKAR1A	ORPHA:1359
HP:0001583	Rotary nystagmus	261734	NPHP4	OMIM:606996
HP:0001583	Rotary nystagmus	5354	PLP1	OMIM:312080
HP:0001583	Rotary nystagmus	5917	RARS1	OMIM:616140
HP:0001583	Rotary nystagmus	91452	ACBD5	OMIM:618863
HP:0001583	Rotary nystagmus	5528	PPP2R5D	ORPHA:457279
HP:0001583	Rotary nystagmus	60529	ALX4	OMIM:613451
HP:0001583	Rotary nystagmus	51660	MPC1	OMIM:614741
HP:0001583	Rotary nystagmus	64834	ELOVL1	OMIM:618527
HP:0001583	Rotary nystagmus	9894	TELO2	ORPHA:488642
HP:0001583	Rotary nystagmus	9894	TELO2	OMIM:616954
HP:0001583	Rotary nystagmus	8777	MPDZ	OMIM:615219
HP:0001583	Rotary nystagmus	8799	PEX11B	OMIM:614920
HP:0001583	Rotary nystagmus	51259	TMEM216	OMIM:608091
HP:0001583	Rotary nystagmus	2671	GFER	ORPHA:330054
HP:0001583	Rotary nystagmus	1130	LYST	ORPHA:167
HP:0001583	Rotary nystagmus	11160	ERLIN2	ORPHA:209951
HP:0001583	Rotary nystagmus	57165	GJC2	OMIM:608804
HP:0001583	Rotary nystagmus	129285	PPP1R21	OMIM:619383
HP:0001583	Rotary nystagmus	6712	SPTBN2	OMIM:600224
HP:0001583	Rotary nystagmus	6567	SLC16A2	OMIM:300523
HP:0001583	Rotary nystagmus	55163	PNPO	OMIM:610090
HP:0001583	Rotary nystagmus	54903	MKS1	OMIM:249000
HP:0001583	Rotary nystagmus	79803	HPS6	OMIM:614075
HP:0001583	Rotary nystagmus	54664	TMEM106B	OMIM:617964
HP:0001583	Rotary nystagmus	3708	ITPR1	OMIM:117360
HP:0001583	Rotary nystagmus	3781	KCNN2	OMIM:619724
HP:0001583	Rotary nystagmus	4548	MTR	OMIM:250940
HP:0001586	Vesicovaginal fistula	8195	MKKS	OMIM:236700
HP:0001586	Vesicovaginal fistula	5447	POR	OMIM:201750
HP:0001586	Vesicovaginal fistula	7355	SLC35A2	OMIM:300896
HP:0008209	Premature ovarian insufficiency	668	FOXL2	OMIM:110100
HP:0008209	Premature ovarian insufficiency	668	FOXL2	ORPHA:572333
HP:0008209	Premature ovarian insufficiency	668	FOXL2	OMIM:608996
HP:0008209	Premature ovarian insufficiency	355	FAS	ORPHA:3261
HP:0008209	Premature ovarian insufficiency	356	FASLG	ORPHA:3261
HP:0008209	Premature ovarian insufficiency	843	CASP10	ORPHA:3261
HP:0008209	Premature ovarian insufficiency	55213	RCBTB1	OMIM:617175
HP:0008209	Premature ovarian insufficiency	1730	DIAPH2	OMIM:300511
HP:0008209	Premature ovarian insufficiency	9210	BMP15	OMIM:300510
HP:0008209	Premature ovarian insufficiency	9210	BMP15	ORPHA:243
HP:0008209	Premature ovarian insufficiency	4683	NBN	OMIM:251260
HP:0008209	Premature ovarian insufficiency	9453	GGPS1	OMIM:619518
HP:0008209	Premature ovarian insufficiency	147872	KASH5	OMIM:620548
HP:0008209	Premature ovarian insufficiency	84515	MCM8	OMIM:612885
HP:0008209	Premature ovarian insufficiency	2592	GALT	OMIM:230400
HP:0008209	Premature ovarian insufficiency	2592	GALT	ORPHA:79239
HP:0008209	Premature ovarian insufficiency	2516	NR5A1	OMIM:612964
HP:0008209	Premature ovarian insufficiency	2516	NR5A1	ORPHA:243
HP:0008209	Premature ovarian insufficiency	125150	ZSWIM7	OMIM:619834
HP:0008209	Premature ovarian insufficiency	125150	ZSWIM7	ORPHA:243
HP:0008209	Premature ovarian insufficiency	64682	ANAPC1	OMIM:618625
HP:0008209	Premature ovarian insufficiency	64682	ANAPC1	ORPHA:221008
HP:0008209	Premature ovarian insufficiency	79228	THOC6	ORPHA:363444
HP:0008209	Premature ovarian insufficiency	79228	THOC6	OMIM:613680
HP:0008209	Premature ovarian insufficiency	11077	HSF2BP	OMIM:619245
HP:0008209	Premature ovarian insufficiency	54453	RIN2	ORPHA:217335
HP:0008209	Premature ovarian insufficiency	317761	C14orf39	OMIM:619203
HP:0008209	Premature ovarian insufficiency	79983	POF1B	OMIM:300604
HP:0008209	Premature ovarian insufficiency	2332	FMR1	OMIM:311360
HP:0008209	Premature ovarian insufficiency	2332	FMR1	OMIM:300623
HP:0008209	Premature ovarian insufficiency	57505	AARS2	OMIM:615889
HP:0008209	Premature ovarian insufficiency	164045	HFM1	OMIM:615724
HP:0008209	Premature ovarian insufficiency	10734	STAG3	OMIM:615723
HP:0008209	Premature ovarian insufficiency	11261	CHP1	OMIM:618438
HP:0008209	Premature ovarian insufficiency	8892	EIF2B2	OMIM:620312
HP:0008209	Premature ovarian insufficiency	84690	SPATA22	OMIM:621002
HP:0008209	Premature ovarian insufficiency	8888	MCM3AP	OMIM:618124
HP:0008209	Premature ovarian insufficiency	326	AIRE	OMIM:240300
HP:0008209	Premature ovarian insufficiency	51434	ANAPC7	OMIM:619699
HP:0008209	Premature ovarian insufficiency	646	BNC1	OMIM:618723
HP:0008209	Premature ovarian insufficiency	646	BNC1	ORPHA:243
HP:0008209	Premature ovarian insufficiency	2072	ERCC4	OMIM:610965
HP:0008209	Premature ovarian insufficiency	55750	AGK	OMIM:212350
HP:0008209	Premature ovarian insufficiency	56652	TWNK	OMIM:609286
HP:0008209	Premature ovarian insufficiency	1967	EIF2B1	OMIM:603896
HP:0008209	Premature ovarian insufficiency	29893	PSMC3IP	ORPHA:243
HP:0008209	Premature ovarian insufficiency	171568	POLR3H	ORPHA:243
HP:0008209	Premature ovarian insufficiency	57122	NUP107	ORPHA:243
HP:0008209	Premature ovarian insufficiency	23514	SPIDR	ORPHA:243
HP:0008209	Premature ovarian insufficiency	23514	SPIDR	OMIM:619665
HP:0008209	Premature ovarian insufficiency	2492	FSHR	ORPHA:243
HP:0008209	Premature ovarian insufficiency	56945	MRPS22	ORPHA:243
HP:0008209	Premature ovarian insufficiency	4438	MSH4	ORPHA:243
HP:0008209	Premature ovarian insufficiency	641	BLM	ORPHA:125
HP:0008209	Premature ovarian insufficiency	2583	B4GALNT1	ORPHA:101006
HP:0008209	Premature ovarian insufficiency	5428	POLG	OMIM:157640
HP:0008209	Premature ovarian insufficiency	80067	DCAF17	OMIM:241080
HP:0008209	Premature ovarian insufficiency	7516	XRCC2	OMIM:619146
HP:0008209	Premature ovarian insufficiency	4000	LMNA	OMIM:151660
HP:0008209	Premature ovarian insufficiency	4000	LMNA	ORPHA:79474
HP:0008209	Premature ovarian insufficiency	26284	ERAL1	OMIM:617565
HP:0008209	Premature ovarian insufficiency	23395	LARS2	OMIM:615300
HP:0008209	Premature ovarian insufficiency	344018	FIGLA	OMIM:612310
HP:0008209	Premature ovarian insufficiency	11232	POLG2	OMIM:619425
HP:0008209	Premature ovarian insufficiency	26146	TRAF3IP1	ORPHA:3156
HP:0008209	Premature ovarian insufficiency	9657	IQCB1	ORPHA:3156
HP:0008209	Premature ovarian insufficiency	10806	SDCCAG8	ORPHA:3156
HP:0008209	Premature ovarian insufficiency	27130	INVS	ORPHA:3156
HP:0008209	Premature ovarian insufficiency	80184	CEP290	ORPHA:3156
HP:0008209	Premature ovarian insufficiency	4867	NPHP1	ORPHA:3156
HP:0008209	Premature ovarian insufficiency	261734	NPHP4	ORPHA:3156
HP:0008209	Premature ovarian insufficiency	57728	WDR19	ORPHA:3156
HP:0008209	Premature ovarian insufficiency	27031	NPHP3	ORPHA:3156
HP:0008209	Premature ovarian insufficiency	22897	CEP164	ORPHA:3156
HP:0008209	Premature ovarian insufficiency	135935	NOBOX	OMIM:611548
HP:0008209	Premature ovarian insufficiency	5373	PMM2	OMIM:212065
HP:0008209	Premature ovarian insufficiency	2584	GALK1	ORPHA:79237
HP:0008209	Premature ovarian insufficiency	80185	TTI2	ORPHA:391307
HP:0005257	Thoracic hypoplasia	4750	NEK1	OMIM:263520
HP:0005257	Thoracic hypoplasia	55503	TRPV6	OMIM:618188
HP:0005257	Thoracic hypoplasia	55503	TRPV6	ORPHA:417
HP:0005257	Thoracic hypoplasia	23556	PIGN	ORPHA:2059
HP:0005257	Thoracic hypoplasia	23556	PIGN	ORPHA:280633
HP:0005257	Thoracic hypoplasia	57539	WDR35	OMIM:613610
HP:0005257	Thoracic hypoplasia	57539	WDR35	ORPHA:93271
HP:0005257	Thoracic hypoplasia	57539	WDR35	ORPHA:1515
HP:0005257	Thoracic hypoplasia	57539	WDR35	OMIM:614091
HP:0005257	Thoracic hypoplasia	55733	HHAT	OMIM:600092
HP:0005257	Thoracic hypoplasia	55733	HHAT	ORPHA:1422
HP:0005257	Thoracic hypoplasia	3636	INPPL1	ORPHA:3144
HP:0005257	Thoracic hypoplasia	3636	INPPL1	OMIM:258480
HP:0005257	Thoracic hypoplasia	3636	INPPL1	ORPHA:2746
HP:0005257	Thoracic hypoplasia	538	ATP7A	OMIM:304150
HP:0005257	Thoracic hypoplasia	538	ATP7A	ORPHA:565
HP:0005257	Thoracic hypoplasia	538	ATP7A	ORPHA:198
HP:0005257	Thoracic hypoplasia	5447	POR	ORPHA:95699
HP:0005257	Thoracic hypoplasia	5447	POR	OMIM:207410
HP:0005257	Thoracic hypoplasia	10479	SLC9A6	OMIM:300243
HP:0005257	Thoracic hypoplasia	55112	DYNC2I1	ORPHA:93271
HP:0005257	Thoracic hypoplasia	55112	DYNC2I1	ORPHA:474
HP:0005257	Thoracic hypoplasia	55112	DYNC2I1	OMIM:615503
HP:0005257	Thoracic hypoplasia	57560	IFT80	ORPHA:93271
HP:0005257	Thoracic hypoplasia	57560	IFT80	ORPHA:474
HP:0005257	Thoracic hypoplasia	57560	IFT80	OMIM:611263
HP:0005257	Thoracic hypoplasia	89891	DYNC2I2	ORPHA:93271
HP:0005257	Thoracic hypoplasia	89891	DYNC2I2	ORPHA:474
HP:0005257	Thoracic hypoplasia	89891	DYNC2I2	OMIM:615633
HP:0005257	Thoracic hypoplasia	58	ACTA1	ORPHA:171436
HP:0005257	Thoracic hypoplasia	58	ACTA1	ORPHA:171439
HP:0005257	Thoracic hypoplasia	7169	TPM2	ORPHA:171436
HP:0005257	Thoracic hypoplasia	7169	TPM2	ORPHA:171439
HP:0005257	Thoracic hypoplasia	4703	NEB	ORPHA:171436
HP:0005257	Thoracic hypoplasia	4703	NEB	ORPHA:171439
HP:0005257	Thoracic hypoplasia	10324	KLHL41	ORPHA:171436
HP:0005257	Thoracic hypoplasia	10324	KLHL41	OMIM:615731
HP:0005257	Thoracic hypoplasia	10324	KLHL41	ORPHA:171439
HP:0005257	Thoracic hypoplasia	56203	LMOD3	ORPHA:171436
HP:0005257	Thoracic hypoplasia	1073	CFL2	ORPHA:171436
HP:0005257	Thoracic hypoplasia	375790	AGRN	OMIM:615120
HP:0005257	Thoracic hypoplasia	8942	KYNU	OMIM:617661
HP:0005257	Thoracic hypoplasia	72	ACTG2	ORPHA:2604
HP:0005257	Thoracic hypoplasia	22858	CILK1	OMIM:612651
HP:0005257	Thoracic hypoplasia	3764	KCNJ8	ORPHA:1517
HP:0005257	Thoracic hypoplasia	10060	ABCC9	ORPHA:1517
HP:0005257	Thoracic hypoplasia	10060	ABCC9	OMIM:239850
HP:0005257	Thoracic hypoplasia	51098	IFT52	ORPHA:1515
HP:0005257	Thoracic hypoplasia	51098	IFT52	OMIM:617102
HP:0005257	Thoracic hypoplasia	55764	IFT122	ORPHA:1515
HP:0005257	Thoracic hypoplasia	55764	IFT122	OMIM:218330
HP:0005257	Thoracic hypoplasia	57728	WDR19	ORPHA:1515
HP:0005257	Thoracic hypoplasia	57728	WDR19	ORPHA:474
HP:0005257	Thoracic hypoplasia	57728	WDR19	OMIM:614378
HP:0005257	Thoracic hypoplasia	57728	WDR19	OMIM:614376
HP:0005257	Thoracic hypoplasia	6023	RMRP	ORPHA:175
HP:0005257	Thoracic hypoplasia	6023	RMRP	OMIM:250250
HP:0005257	Thoracic hypoplasia	54543	TOMM7	OMIM:620601
HP:0005257	Thoracic hypoplasia	23184	MESD	OMIM:618644
HP:0005257	Thoracic hypoplasia	90993	CREB3L1	OMIM:616229
HP:0005257	Thoracic hypoplasia	5566	PRKACA	ORPHA:289
HP:0005257	Thoracic hypoplasia	5567	PRKACB	ORPHA:289
HP:0005257	Thoracic hypoplasia	5567	PRKACB	OMIM:619143
HP:0005257	Thoracic hypoplasia	2735	GLI1	ORPHA:289
HP:0005257	Thoracic hypoplasia	2121	EVC	ORPHA:289
HP:0005257	Thoracic hypoplasia	2121	EVC	OMIM:225500
HP:0005257	Thoracic hypoplasia	51626	DYNC2LI1	ORPHA:289
HP:0005257	Thoracic hypoplasia	51626	DYNC2LI1	ORPHA:474
HP:0005257	Thoracic hypoplasia	51626	DYNC2LI1	OMIM:617088
HP:0005257	Thoracic hypoplasia	132884	EVC2	ORPHA:289
HP:0005257	Thoracic hypoplasia	132884	EVC2	OMIM:225500
HP:0005257	Thoracic hypoplasia	10484	SEC23A	OMIM:607812
HP:0005257	Thoracic hypoplasia	10484	SEC23A	ORPHA:50814
HP:0005257	Thoracic hypoplasia	860	RUNX2	OMIM:119600
HP:0005257	Thoracic hypoplasia	860	RUNX2	ORPHA:1452
HP:0005257	Thoracic hypoplasia	79867	TCTN2	OMIM:613885
HP:0005257	Thoracic hypoplasia	8642	DCHS1	OMIM:601390
HP:0005257	Thoracic hypoplasia	2200	FBN1	OMIM:616914
HP:0005257	Thoracic hypoplasia	2200	FBN1	ORPHA:2462
HP:0005257	Thoracic hypoplasia	2316	FLNA	ORPHA:90652
HP:0005257	Thoracic hypoplasia	2316	FLNA	ORPHA:2484
HP:0005257	Thoracic hypoplasia	2316	FLNA	OMIM:304120
HP:0005257	Thoracic hypoplasia	2316	FLNA	OMIM:309350
HP:0005257	Thoracic hypoplasia	153241	CEP120	ORPHA:474
HP:0005257	Thoracic hypoplasia	153241	CEP120	OMIM:616300
HP:0005257	Thoracic hypoplasia	79809	TTC21B	ORPHA:474
HP:0005257	Thoracic hypoplasia	79809	TTC21B	OMIM:613819
HP:0005257	Thoracic hypoplasia	11285	B4GALT7	OMIM:130070
HP:0005257	Thoracic hypoplasia	65109	UPF3B	OMIM:300676
HP:0005257	Thoracic hypoplasia	54880	BCOR	OMIM:309800
HP:0005257	Thoracic hypoplasia	8260	NAA10	OMIM:309800
HP:0005257	Thoracic hypoplasia	9508	ADAMTS3	ORPHA:2136
HP:0005257	Thoracic hypoplasia	147372	CCBE1	ORPHA:2136
HP:0005257	Thoracic hypoplasia	79633	FAT4	ORPHA:2136
HP:0005257	Thoracic hypoplasia	79633	FAT4	OMIM:615546
HP:0005257	Thoracic hypoplasia	54499	TMCO1	OMIM:213980
HP:0005257	Thoracic hypoplasia	54499	TMCO1	ORPHA:1394
HP:0005257	Thoracic hypoplasia	11128	POLR3A	OMIM:264090
HP:0005257	Thoracic hypoplasia	3675	ITGA3	OMIM:614748
HP:0005257	Thoracic hypoplasia	26137	ZBTB20	OMIM:259050
HP:0005257	Thoracic hypoplasia	26137	ZBTB20	ORPHA:3042
HP:0005257	Thoracic hypoplasia	9321	TRIP11	OMIM:184260
HP:0005257	Thoracic hypoplasia	9321	TRIP11	ORPHA:93299
HP:0005257	Thoracic hypoplasia	9321	TRIP11	ORPHA:166272
HP:0005257	Thoracic hypoplasia	9321	TRIP11	OMIM:200600
HP:0005257	Thoracic hypoplasia	1654	DDX3X	ORPHA:3338
HP:0005257	Thoracic hypoplasia	2542	SLC37A4	OMIM:619525
HP:0005257	Thoracic hypoplasia	5290	PIK3CA	ORPHA:168984
HP:0005257	Thoracic hypoplasia	124583	CANT1	OMIM:251450
HP:0005257	Thoracic hypoplasia	4000	LMNA	ORPHA:157973
HP:0005257	Thoracic hypoplasia	9968	MED12	OMIM:300895
HP:0005257	Thoracic hypoplasia	7994	KAT6A	OMIM:616268
HP:0005257	Thoracic hypoplasia	84665	MYPN	ORPHA:171439
HP:0005257	Thoracic hypoplasia	390594	KBTBD13	ORPHA:171439
HP:0005257	Thoracic hypoplasia	7170	TPM3	ORPHA:171439
HP:0005257	Thoracic hypoplasia	51025	PAM16	OMIM:613320
HP:0005257	Thoracic hypoplasia	27152	INTU	OMIM:617925
HP:0005257	Thoracic hypoplasia	6497	SKI	ORPHA:2462
HP:0005257	Thoracic hypoplasia	846	CASR	OMIM:239200
HP:0005257	Thoracic hypoplasia	846	CASR	ORPHA:417
HP:0005257	Thoracic hypoplasia	2879	GPX4	OMIM:250220
HP:0005257	Thoracic hypoplasia	2879	GPX4	ORPHA:93317
HP:0005257	Thoracic hypoplasia	55906	ZC4H2	OMIM:301041
HP:0005257	Thoracic hypoplasia	55906	ZC4H2	OMIM:314580
HP:0005257	Thoracic hypoplasia	5745	PTH1R	OMIM:215045
HP:0005257	Thoracic hypoplasia	5745	PTH1R	ORPHA:50945
HP:0005257	Thoracic hypoplasia	10312	TCIRG1	ORPHA:667
HP:0005257	Thoracic hypoplasia	1186	CLCN7	ORPHA:667
HP:0005257	Thoracic hypoplasia	29887	SNX10	ORPHA:667
HP:0005257	Thoracic hypoplasia	8600	TNFSF11	ORPHA:667
HP:0005257	Thoracic hypoplasia	59341	TRPV4	OMIM:156530
HP:0005257	Thoracic hypoplasia	59341	TRPV4	ORPHA:2635
HP:0005257	Thoracic hypoplasia	91754	NEK9	OMIM:617022
HP:0005257	Thoracic hypoplasia	6729	SRP54	OMIM:260400
HP:0005257	Thoracic hypoplasia	51119	SBDS	OMIM:260400
HP:0005257	Thoracic hypoplasia	134218	DNAJC21	OMIM:260400
HP:0005257	Thoracic hypoplasia	2263	FGFR2	OMIM:207410
HP:0005257	Thoracic hypoplasia	79158	GNPTAB	ORPHA:576
HP:0005257	Thoracic hypoplasia	1741	DLG3	OMIM:300850
HP:0005257	Thoracic hypoplasia	3549	IHH	ORPHA:63446
HP:0005257	Thoracic hypoplasia	3549	IHH	OMIM:607778
HP:0005257	Thoracic hypoplasia	64131	XYLT1	OMIM:615777
HP:0005257	Thoracic hypoplasia	22827	PUF60	ORPHA:508488
HP:0005257	Thoracic hypoplasia	7703	PCGF2	OMIM:618371
HP:0005257	Thoracic hypoplasia	5116	PCNT	OMIM:210720
HP:0005257	Thoracic hypoplasia	6811	STX5	OMIM:620454
HP:0005257	Thoracic hypoplasia	23594	ORC6	OMIM:613803
HP:0005257	Thoracic hypoplasia	6874	TAF4	OMIM:620450
HP:0005257	Thoracic hypoplasia	29980	DONSON	OMIM:251230
HP:0005257	Thoracic hypoplasia	57003	CCDC47	OMIM:618268
HP:0005257	Thoracic hypoplasia	2571	GAD1	OMIM:619124
HP:0005257	Thoracic hypoplasia	7291	TWIST1	OMIM:617746
HP:0005257	Thoracic hypoplasia	55717	WDR11	OMIM:620237
HP:0005257	Thoracic hypoplasia	5331	PLCB3	OMIM:618961
HP:0005257	Thoracic hypoplasia	10491	CRTAP	OMIM:610682
HP:0005257	Thoracic hypoplasia	5479	PPIB	OMIM:259440
HP:0005257	Thoracic hypoplasia	6223	RPS19	OMIM:105650
HP:0005257	Thoracic hypoplasia	1513	CTSK	ORPHA:763
HP:0005257	Thoracic hypoplasia	6910	TBX5	OMIM:142900
HP:0005257	Thoracic hypoplasia	9469	CHST3	OMIM:245600
HP:0005257	Thoracic hypoplasia	26229	B3GAT3	OMIM:245600
HP:0005257	Thoracic hypoplasia	25871	NEPRO	OMIM:618853
HP:0005257	Thoracic hypoplasia	4654	MYOD1	OMIM:618975
HP:0005257	Thoracic hypoplasia	255758	DYNLT2B	OMIM:617405
HP:0005257	Thoracic hypoplasia	51360	MBTPS2	OMIM:308205
HP:0005257	Thoracic hypoplasia	4921	DDR2	OMIM:271665
HP:0005257	Thoracic hypoplasia	2261	FGFR3	OMIM:187600
HP:0005257	Thoracic hypoplasia	2261	FGFR3	OMIM:100800
HP:0005257	Thoracic hypoplasia	2261	FGFR3	ORPHA:15
HP:0005257	Thoracic hypoplasia	79659	DYNC2H1	OMIM:613091
HP:0005257	Thoracic hypoplasia	3572	IL6ST	OMIM:619751
HP:0005257	Thoracic hypoplasia	388015	RTL1	ORPHA:254534
HP:0005257	Thoracic hypoplasia	388015	RTL1	ORPHA:254528
HP:0005257	Thoracic hypoplasia	388015	RTL1	ORPHA:96334
HP:0005257	Thoracic hypoplasia	8788	DLK1	ORPHA:254534
HP:0005257	Thoracic hypoplasia	8788	DLK1	ORPHA:254528
HP:0005257	Thoracic hypoplasia	8788	DLK1	ORPHA:96334
HP:0005257	Thoracic hypoplasia	55384	MEG3	ORPHA:254534
HP:0005257	Thoracic hypoplasia	55384	MEG3	ORPHA:254528
HP:0005257	Thoracic hypoplasia	55384	MEG3	ORPHA:96334
HP:0005257	Thoracic hypoplasia	6628	SNRPB	OMIM:117650
HP:0005257	Thoracic hypoplasia	1280	COL2A1	OMIM:151210
HP:0005257	Thoracic hypoplasia	9851	KIAA0753	OMIM:619479
HP:0005257	Thoracic hypoplasia	4593	MUSK	OMIM:208150
HP:0005257	Thoracic hypoplasia	28981	IFT81	OMIM:617895
HP:0005257	Thoracic hypoplasia	26160	IFT172	OMIM:615630
HP:0005257	Thoracic hypoplasia	755	CFAP410	OMIM:602271
HP:0005257	Thoracic hypoplasia	65992	DDRGK1	ORPHA:93352
HP:0005257	Thoracic hypoplasia	2629	GBA1	OMIM:608013
HP:0005257	Thoracic hypoplasia	4148	MATN3	OMIM:608728
HP:0005257	Thoracic hypoplasia	4148	MATN3	ORPHA:156728
HP:0005257	Thoracic hypoplasia	2317	FLNB	ORPHA:56305
HP:0005257	Thoracic hypoplasia	2317	FLNB	ORPHA:1190
HP:0005257	Thoracic hypoplasia	2317	FLNB	OMIM:108720
HP:0005257	Thoracic hypoplasia	1836	SLC26A2	ORPHA:56304
HP:0005257	Thoracic hypoplasia	1836	SLC26A2	OMIM:256050
HP:0005257	Thoracic hypoplasia	79848	CSPP1	ORPHA:397715
HP:0005257	Thoracic hypoplasia	9786	KIAA0586	ORPHA:397715
HP:0005257	Thoracic hypoplasia	112752	IFT43	OMIM:617866
HP:0005257	Thoracic hypoplasia	202018	TAPT1	OMIM:616897
HP:0005257	Thoracic hypoplasia	6662	SOX9	OMIM:114290
HP:0005257	Thoracic hypoplasia	23169	SLC35D1	OMIM:269250
HP:0005257	Thoracic hypoplasia	56975	FAM20C	OMIM:259775
HP:0005257	Thoracic hypoplasia	3930	LBR	OMIM:215140
HP:0005257	Thoracic hypoplasia	3930	LBR	OMIM:618019
HP:0005257	Thoracic hypoplasia	3339	HSPG2	OMIM:224410
HP:0005257	Thoracic hypoplasia	10020	GNE	OMIM:269921
HP:0005257	Thoracic hypoplasia	84068	SLC10A7	OMIM:618363
HP:0005257	Thoracic hypoplasia	5286	PIK3C2A	OMIM:618440
HP:0005257	Thoracic hypoplasia	1277	COL1A1	OMIM:166210
HP:0005257	Thoracic hypoplasia	1278	COL1A2	OMIM:166210
HP:0005257	Thoracic hypoplasia	1302	COL11A2	OMIM:614524
HP:0005257	Thoracic hypoplasia	3295	HSD17B4	OMIM:261515
HP:0005257	Thoracic hypoplasia	6329	SCN4A	OMIM:620369
HP:0005257	Thoracic hypoplasia	9742	IFT140	OMIM:266920
HP:0005257	Thoracic hypoplasia	1301	COL11A1	OMIM:228520
HP:0005257	Thoracic hypoplasia	5277	PIGA	OMIM:300868
HP:0005257	Thoracic hypoplasia	2475	MTOR	ORPHA:457485
HP:0005257	Thoracic hypoplasia	2475	MTOR	OMIM:616638
HP:0005257	Thoracic hypoplasia	871	SERPINH1	OMIM:613848
HP:0005257	Thoracic hypoplasia	168667	BMPER	OMIM:608022
HP:0001591	Bell-shaped thorax	4921	DDR2	OMIM:271665
HP:0001591	Bell-shaped thorax	9321	TRIP11	OMIM:200600
HP:0001591	Bell-shaped thorax	65992	DDRGK1	OMIM:602557
HP:0001591	Bell-shaped thorax	6628	SNRPB	OMIM:117650
HP:0001591	Bell-shaped thorax	6628	SNRPB	ORPHA:1393
HP:0001591	Bell-shaped thorax	153241	CEP120	OMIM:616300
HP:0001591	Bell-shaped thorax	11014	KDELR2	OMIM:619131
HP:0001591	Bell-shaped thorax	89891	DYNC2I2	OMIM:615633
HP:0001591	Bell-shaped thorax	26160	IFT172	OMIM:615630
HP:0001591	Bell-shaped thorax	84168	ANTXR1	OMIM:230740
HP:0001591	Bell-shaped thorax	79848	CSPP1	OMIM:615636
HP:0001591	Bell-shaped thorax	79848	CSPP1	ORPHA:397715
HP:0001591	Bell-shaped thorax	1277	COL1A1	OMIM:166210
HP:0001591	Bell-shaped thorax	1278	COL1A2	OMIM:166210
HP:0001591	Bell-shaped thorax	1302	COL11A2	OMIM:614524
HP:0001591	Bell-shaped thorax	1302	COL11A2	ORPHA:2021
HP:0001591	Bell-shaped thorax	55733	HHAT	OMIM:600092
HP:0001591	Bell-shaped thorax	2263	FGFR2	ORPHA:313855
HP:0001591	Bell-shaped thorax	2263	FGFR2	OMIM:614592
HP:0001591	Bell-shaped thorax	64131	XYLT1	ORPHA:1425
HP:0001591	Bell-shaped thorax	124583	CANT1	ORPHA:1425
HP:0001591	Bell-shaped thorax	55790	CSGALNACT1	ORPHA:1425
HP:0001591	Bell-shaped thorax	2317	FLNB	OMIM:108720
HP:0001591	Bell-shaped thorax	1280	COL2A1	ORPHA:485
HP:0001591	Bell-shaped thorax	1836	SLC26A2	ORPHA:56304
HP:0001591	Bell-shaped thorax	9786	KIAA0586	ORPHA:397715
HP:0001591	Bell-shaped thorax	3636	INPPL1	OMIM:258480
HP:0001591	Bell-shaped thorax	6913	TBX15	OMIM:260660
HP:0001591	Bell-shaped thorax	1436	CSF1R	OMIM:618476
HP:0001591	Bell-shaped thorax	89910	UBE3B	OMIM:244450
HP:0001591	Bell-shaped thorax	51025	PAM16	OMIM:613320
HP:0001591	Bell-shaped thorax	84667	HES7	OMIM:613686
HP:0001591	Bell-shaped thorax	5081	PAX7	OMIM:618578
HP:0001591	Bell-shaped thorax	1301	COL11A1	ORPHA:2021
HP:0001591	Bell-shaped thorax	5826	ABCD4	OMIM:614857
HP:0001591	Bell-shaped thorax	5189	PEX1	OMIM:214100
HP:0001591	Bell-shaped thorax	168667	BMPER	OMIM:608022
HP:0001592	Selective tooth agenesis	641	BLM	OMIM:210900
HP:0001592	Selective tooth agenesis	2071	ERCC3	OMIM:616390
HP:0001592	Selective tooth agenesis	54880	BCOR	OMIM:309800
HP:0001592	Selective tooth agenesis	8260	NAA10	OMIM:309800
HP:0001592	Selective tooth agenesis	145173	B3GLCT	OMIM:261540
HP:0001592	Selective tooth agenesis	8626	TP63	OMIM:106260
HP:0001592	Selective tooth agenesis	8626	TP63	OMIM:604292
HP:0001592	Selective tooth agenesis	7480	WNT10B	OMIM:617073
HP:0001592	Selective tooth agenesis	2316	FLNA	OMIM:305620
HP:0001592	Selective tooth agenesis	2316	FLNA	OMIM:311300
HP:0001592	Selective tooth agenesis	64388	GREM2	OMIM:617275
HP:0001592	Selective tooth agenesis	1001	CDH3	OMIM:225280
HP:0001592	Selective tooth agenesis	1001	CDH3	ORPHA:1897
HP:0001592	Selective tooth agenesis	545	ATR	OMIM:210600
HP:0001592	Selective tooth agenesis	1896	EDA	OMIM:313500
HP:0001592	Selective tooth agenesis	526	ATP6V1B2	OMIM:124480
HP:0001592	Selective tooth agenesis	22995	CEP152	OMIM:613823
HP:0001592	Selective tooth agenesis	2697	GJA1	OMIM:164200
HP:0001592	Selective tooth agenesis	4750	NEK1	ORPHA:2751
HP:0001592	Selective tooth agenesis	4750	NEK1	OMIM:252100
HP:0001592	Selective tooth agenesis	9775	EIF4A3	OMIM:268305
HP:0001592	Selective tooth agenesis	2736	GLI2	OMIM:610829
HP:0001592	Selective tooth agenesis	1747	DLX3	ORPHA:3352
HP:0001592	Selective tooth agenesis	9578	CDC42BPB	OMIM:619841
HP:0001592	Selective tooth agenesis	1009	CDH11	OMIM:211380
HP:0001592	Selective tooth agenesis	2248	FGF3	ORPHA:2791
HP:0001592	Selective tooth agenesis	2260	FGFR1	ORPHA:99798
HP:0001592	Selective tooth agenesis	4487	MSX1	ORPHA:99798
HP:0001592	Selective tooth agenesis	128178	EDARADD	ORPHA:99798
HP:0001592	Selective tooth agenesis	5083	PAX9	ORPHA:99798
HP:0001592	Selective tooth agenesis	7341	SUMO1	ORPHA:99798
HP:0001592	Selective tooth agenesis	80326	WNT10A	ORPHA:99798
HP:0001592	Selective tooth agenesis	8313	AXIN2	ORPHA:99798
HP:0001592	Selective tooth agenesis	3664	IRF6	ORPHA:99798
HP:0001592	Selective tooth agenesis	4040	LRP6	ORPHA:99798
HP:0001592	Selective tooth agenesis	7039	TGFA	ORPHA:99798
HP:0001592	Selective tooth agenesis	6938	TCF12	OMIM:619718
HP:0001592	Selective tooth agenesis	83479	DDX59	ORPHA:2919
HP:0001592	Selective tooth agenesis	1748	DLX4	OMIM:616788
HP:0001592	Selective tooth agenesis	1748	DLX4	ORPHA:199306
HP:0001592	Selective tooth agenesis	57589	RIC1	ORPHA:199306
HP:0001592	Selective tooth agenesis	5818	NECTIN1	ORPHA:199306
HP:0001592	Selective tooth agenesis	1739	DLG1	ORPHA:199306
HP:0001592	Selective tooth agenesis	999	CDH1	ORPHA:199306
HP:0001592	Selective tooth agenesis	5156	PDGFRA	ORPHA:199306
HP:0001592	Selective tooth agenesis	652	BMP4	ORPHA:199306
HP:0001592	Selective tooth agenesis	22837	COBLL1	ORPHA:199306
HP:0001592	Selective tooth agenesis	54848	ARHGEF38	ORPHA:199306
HP:0001592	Selective tooth agenesis	9411	ARHGAP29	ORPHA:199306
HP:0001592	Selective tooth agenesis	54101	RIPK4	ORPHA:1401
HP:0001592	Selective tooth agenesis	170689	ADAMTS15	OMIM:620545
HP:0001595	Abnormal hair morphology	3479	IGF1	ORPHA:73272
HP:0001595	Abnormal hair morphology	11113	CIT	OMIM:617090
HP:0001595	Abnormal hair morphology	25970	SH2B1	ORPHA:261222
HP:0001595	Abnormal hair morphology	6909	TBX2	OMIM:618223
HP:0001595	Abnormal hair morphology	8818	DPM2	ORPHA:329178
HP:0001595	Abnormal hair morphology	7545	ZIC1	OMIM:616602
HP:0001595	Abnormal hair morphology	7545	ZIC1	OMIM:618736
HP:0001595	Abnormal hair morphology	4076	CAPRIN1	OMIM:620782
HP:0001595	Abnormal hair morphology	57465	TBC1D24	OMIM:220500
HP:0001595	Abnormal hair morphology	57465	TBC1D24	ORPHA:79500
HP:0001595	Abnormal hair morphology	79029	AFG2B	OMIM:619616
HP:0001595	Abnormal hair morphology	23065	EMC1	OMIM:616875
HP:0001595	Abnormal hair morphology	23065	EMC1	ORPHA:480898
HP:0001595	Abnormal hair morphology	59336	PRDM13	OMIM:619909
HP:0001595	Abnormal hair morphology	9895	TECPR2	OMIM:615031
HP:0001595	Abnormal hair morphology	9895	TECPR2	ORPHA:320385
HP:0001595	Abnormal hair morphology	6938	TCF12	OMIM:615314
HP:0001595	Abnormal hair morphology	80036	TRPM3	OMIM:620224
HP:0001595	Abnormal hair morphology	440138	ALG11	OMIM:613661
HP:0001595	Abnormal hair morphology	79147	FKRP	OMIM:613153
HP:0001595	Abnormal hair morphology	6138	RPL15	ORPHA:124
HP:0001595	Abnormal hair morphology	6224	RPS20	ORPHA:124
HP:0001595	Abnormal hair morphology	6165	RPL35A	ORPHA:124
HP:0001595	Abnormal hair morphology	6132	RPL8	ORPHA:124
HP:0001595	Abnormal hair morphology	6223	RPS19	ORPHA:124
HP:0001595	Abnormal hair morphology	6232	RPS27	ORPHA:124
HP:0001595	Abnormal hair morphology	6160	RPL31	ORPHA:124
HP:0001595	Abnormal hair morphology	6201	RPS7	ORPHA:124
HP:0001595	Abnormal hair morphology	6155	RPL27	ORPHA:124
HP:0001595	Abnormal hair morphology	6135	RPL11	ORPHA:124
HP:0001595	Abnormal hair morphology	6229	RPS24	ORPHA:124
HP:0001595	Abnormal hair morphology	6125	RPL5	ORPHA:124
HP:0001595	Abnormal hair morphology	6204	RPS10	ORPHA:124
HP:0001595	Abnormal hair morphology	6133	RPL9	ORPHA:124
HP:0001595	Abnormal hair morphology	6231	RPS26	ORPHA:124
HP:0001595	Abnormal hair morphology	11224	RPL35	ORPHA:124
HP:0001595	Abnormal hair morphology	6218	RPS17	ORPHA:124
HP:0001595	Abnormal hair morphology	6154	RPL26	ORPHA:124
HP:0001595	Abnormal hair morphology	6210	RPS15A	ORPHA:124
HP:0001595	Abnormal hair morphology	6141	RPL18	ORPHA:124
HP:0001595	Abnormal hair morphology	6235	RPS29	ORPHA:124
HP:0001595	Abnormal hair morphology	51816	ADA2	ORPHA:124
HP:0001595	Abnormal hair morphology	27145	FILIP1	OMIM:620775
HP:0001595	Abnormal hair morphology	9990	SLC12A6	OMIM:218000
HP:0001595	Abnormal hair morphology	257	ALX3	OMIM:136760
HP:0001595	Abnormal hair morphology	257	ALX3	ORPHA:391474
HP:0001595	Abnormal hair morphology	4281	MID1	OMIM:300000
HP:0001595	Abnormal hair morphology	4281	MID1	ORPHA:2745
HP:0001595	Abnormal hair morphology	10220	GDF11	OMIM:619122
HP:0001595	Abnormal hair morphology	4036	LRP2	ORPHA:2143
HP:0001595	Abnormal hair morphology	147409	DSG4	ORPHA:573
HP:0001595	Abnormal hair morphology	3892	KRT86	ORPHA:573
HP:0001595	Abnormal hair morphology	3887	KRT81	ORPHA:573
HP:0001595	Abnormal hair morphology	157680	VPS13B	ORPHA:193
HP:0001595	Abnormal hair morphology	1041	CDSN	ORPHA:90368
HP:0001595	Abnormal hair morphology	121391	KRT74	ORPHA:90368
HP:0001595	Abnormal hair morphology	121391	KRT74	OMIM:194300
HP:0001595	Abnormal hair morphology	121391	KRT74	OMIM:613981
HP:0001595	Abnormal hair morphology	85378	TUBGCP6	ORPHA:2518
HP:0001595	Abnormal hair morphology	27229	TUBGCP4	ORPHA:2518
HP:0001595	Abnormal hair morphology	10733	PLK4	ORPHA:2518
HP:0001595	Abnormal hair morphology	5604	MAP2K1	ORPHA:1340
HP:0001595	Abnormal hair morphology	5605	MAP2K2	ORPHA:1340
HP:0001595	Abnormal hair morphology	3845	KRAS	ORPHA:1340
HP:0001595	Abnormal hair morphology	3845	KRAS	ORPHA:2396
HP:0001595	Abnormal hair morphology	673	BRAF	ORPHA:1340
HP:0001595	Abnormal hair morphology	2260	FGFR1	ORPHA:2396
HP:0001595	Abnormal hair morphology	64131	XYLT1	ORPHA:1425
HP:0001595	Abnormal hair morphology	124583	CANT1	ORPHA:1425
HP:0001595	Abnormal hair morphology	55790	CSGALNACT1	ORPHA:1425
HP:0001595	Abnormal hair morphology	54539	NDUFB11	ORPHA:2556
HP:0001595	Abnormal hair morphology	1349	COX7B	ORPHA:2556
HP:0001595	Abnormal hair morphology	3052	HCCS	ORPHA:2556
HP:0001595	Abnormal hair morphology	1281	COL3A1	ORPHA:286
HP:0001595	Abnormal hair morphology	374879	ZNF699	OMIM:619488
HP:0001595	Abnormal hair morphology	80169	CTC1	ORPHA:1775
HP:0001595	Abnormal hair morphology	26277	TINF2	ORPHA:1775
HP:0001595	Abnormal hair morphology	55651	NHP2	ORPHA:1775
HP:0001595	Abnormal hair morphology	79650	USB1	ORPHA:1775
HP:0001595	Abnormal hair morphology	55135	WRAP53	ORPHA:1775
HP:0001595	Abnormal hair morphology	51750	RTEL1	ORPHA:1775
HP:0001595	Abnormal hair morphology	4869	NPM1	ORPHA:1775
HP:0001595	Abnormal hair morphology	7012	TERC	ORPHA:1775
HP:0001595	Abnormal hair morphology	55505	NOP10	ORPHA:1775
HP:0001595	Abnormal hair morphology	5073	PARN	ORPHA:1775
HP:0001595	Abnormal hair morphology	1736	DKC1	ORPHA:1775
HP:0001595	Abnormal hair morphology	7298	TYMS	ORPHA:1775
HP:0001595	Abnormal hair morphology	355	FAS	ORPHA:3437
HP:0001595	Abnormal hair morphology	26191	PTPN22	ORPHA:3437
HP:0001595	Abnormal hair morphology	64093	SMOC1	OMIM:206920
HP:0001595	Abnormal hair morphology	1717	DHCR7	ORPHA:818
HP:0001595	Abnormal hair morphology	8243	SMC1A	OMIM:300590
HP:0001595	Abnormal hair morphology	8243	SMC1A	ORPHA:199
HP:0001595	Abnormal hair morphology	8036	SHOC2	OMIM:607721
HP:0001595	Abnormal hair morphology	11253	MAN1B1	ORPHA:397941
HP:0001595	Abnormal hair morphology	26235	FBXL4	OMIM:615471
HP:0001595	Abnormal hair morphology	8367	H4C5	OMIM:619950
HP:0001595	Abnormal hair morphology	9853	RUSC2	OMIM:617773
HP:0001595	Abnormal hair morphology	6228	RPS23	OMIM:617412
HP:0001595	Abnormal hair morphology	10973	ASCC3	OMIM:620700
HP:0001595	Abnormal hair morphology	4897	NRCAM	OMIM:619833
HP:0001595	Abnormal hair morphology	10586	MAB21L2	OMIM:615877
HP:0001595	Abnormal hair morphology	10274	STAG1	ORPHA:502434
HP:0001595	Abnormal hair morphology	85358	SHANK3	OMIM:606232
HP:0001595	Abnormal hair morphology	27125	AFF4	ORPHA:444077
HP:0001595	Abnormal hair morphology	27125	AFF4	OMIM:616368
HP:0001595	Abnormal hair morphology	55869	HDAC8	OMIM:300882
HP:0001595	Abnormal hair morphology	55869	HDAC8	ORPHA:199
HP:0001595	Abnormal hair morphology	10847	SRCAP	OMIM:136140
HP:0001595	Abnormal hair morphology	1436	CSF1R	OMIM:618476
HP:0001595	Abnormal hair morphology	9578	CDC42BPB	OMIM:619841
HP:0001595	Abnormal hair morphology	29998	BICRA	OMIM:619325
HP:0001595	Abnormal hair morphology	80816	ASXL3	OMIM:615485
HP:0001595	Abnormal hair morphology	10978	CLP1	ORPHA:411493
HP:0001595	Abnormal hair morphology	10978	CLP1	OMIM:615803
HP:0001595	Abnormal hair morphology	6536	SLC6A9	OMIM:617301
HP:0001595	Abnormal hair morphology	51506	UFC1	OMIM:618076
HP:0001595	Abnormal hair morphology	9442	MED27	OMIM:619286
HP:0001595	Abnormal hair morphology	1855	DVL1	OMIM:616331
HP:0001595	Abnormal hair morphology	1855	DVL1	ORPHA:3107
HP:0001595	Abnormal hair morphology	1855	DVL1	OMIM:180700
HP:0001595	Abnormal hair morphology	65082	VPS33A	OMIM:617303
HP:0001595	Abnormal hair morphology	65082	VPS33A	ORPHA:505248
HP:0001595	Abnormal hair morphology	526	ATP6V1B2	OMIM:616455
HP:0001595	Abnormal hair morphology	526	ATP6V1B2	ORPHA:3473
HP:0001595	Abnormal hair morphology	8085	KMT2D	ORPHA:2322
HP:0001595	Abnormal hair morphology	8085	KMT2D	OMIM:147920
HP:0001595	Abnormal hair morphology	7403	KDM6A	ORPHA:2322
HP:0001595	Abnormal hair morphology	7403	KDM6A	OMIM:300867
HP:0001595	Abnormal hair morphology	7403	KDM6A	OMIM:147920
HP:0001595	Abnormal hair morphology	55690	PACS1	OMIM:615009
HP:0001595	Abnormal hair morphology	55690	PACS1	ORPHA:329224
HP:0001595	Abnormal hair morphology	4081	MAB21L1	OMIM:618479
HP:0001595	Abnormal hair morphology	4081	MAB21L1	ORPHA:495875
HP:0001595	Abnormal hair morphology	2250	FGF5	OMIM:190330
HP:0001595	Abnormal hair morphology	10908	PNPLA6	OMIM:275400
HP:0001595	Abnormal hair morphology	10908	PNPLA6	ORPHA:3363
HP:0001595	Abnormal hair morphology	3764	KCNJ8	ORPHA:1517
HP:0001595	Abnormal hair morphology	10060	ABCC9	ORPHA:1517
HP:0001595	Abnormal hair morphology	10060	ABCC9	OMIM:239850
HP:0001595	Abnormal hair morphology	9126	SMC3	OMIM:610759
HP:0001595	Abnormal hair morphology	9126	SMC3	ORPHA:199
HP:0001595	Abnormal hair morphology	4297	KMT2A	OMIM:605130
HP:0001595	Abnormal hair morphology	4297	KMT2A	ORPHA:319182
HP:0001595	Abnormal hair morphology	55777	MBD5	OMIM:156200
HP:0001595	Abnormal hair morphology	23221	RHOBTB2	OMIM:618004
HP:0001595	Abnormal hair morphology	57492	ARID1B	OMIM:135900
HP:0001595	Abnormal hair morphology	1956	EGFR	OMIM:616069
HP:0001595	Abnormal hair morphology	4998	ORC1	OMIM:224690
HP:0001595	Abnormal hair morphology	6601	SMARCC2	OMIM:618362
HP:0001595	Abnormal hair morphology	4052	LTBP1	OMIM:619451
HP:0001595	Abnormal hair morphology	8260	NAA10	OMIM:300855
HP:0001595	Abnormal hair morphology	80204	FBXO11	OMIM:618089
HP:0001595	Abnormal hair morphology	8120	AP3B2	OMIM:617276
HP:0001595	Abnormal hair morphology	5119	CHMP1A	OMIM:614961
HP:0001595	Abnormal hair morphology	55603	TENT5A	OMIM:617952
HP:0001595	Abnormal hair morphology	4853	NOTCH2	OMIM:102500
HP:0001595	Abnormal hair morphology	64359	NXN	OMIM:618529
HP:0001595	Abnormal hair morphology	64359	NXN	ORPHA:1507
HP:0001595	Abnormal hair morphology	93627	TBCK	OMIM:616900
HP:0001595	Abnormal hair morphology	4920	ROR2	ORPHA:1507
HP:0001595	Abnormal hair morphology	4920	ROR2	OMIM:268310
HP:0001595	Abnormal hair morphology	8289	ARID1A	OMIM:614607
HP:0001595	Abnormal hair morphology	7841	MOGS	OMIM:606056
HP:0001595	Abnormal hair morphology	7841	MOGS	ORPHA:79330
HP:0001595	Abnormal hair morphology	6598	SMARCB1	OMIM:614608
HP:0001595	Abnormal hair morphology	6597	SMARCA4	OMIM:614609
HP:0001595	Abnormal hair morphology	22827	PUF60	ORPHA:508488
HP:0001595	Abnormal hair morphology	9377	COX5A	OMIM:619064
HP:0001595	Abnormal hair morphology	6045	RNF2	OMIM:619460
HP:0001595	Abnormal hair morphology	6872	TAF1	ORPHA:480907
HP:0001595	Abnormal hair morphology	23258	DENND5A	OMIM:617281
HP:0001595	Abnormal hair morphology	9496	TBX4	ORPHA:261279
HP:0001595	Abnormal hair morphology	1105	CHD1	OMIM:617682
HP:0001595	Abnormal hair morphology	22872	SEC31A	OMIM:618651
HP:0001595	Abnormal hair morphology	283987	HID1	OMIM:619983
HP:0001595	Abnormal hair morphology	23314	SATB2	OMIM:612313
HP:0001595	Abnormal hair morphology	649	BMP1	OMIM:614856
HP:0001595	Abnormal hair morphology	2783	GNB2	OMIM:619503
HP:0001595	Abnormal hair morphology	3782	KCNN3	OMIM:618658
HP:0001595	Abnormal hair morphology	3782	KCNN3	ORPHA:3473
HP:0001595	Abnormal hair morphology	3756	KCNH1	ORPHA:3473
HP:0001595	Abnormal hair morphology	3756	KCNH1	ORPHA:420561
HP:0001595	Abnormal hair morphology	26834	RNU4-2	OMIM:620851
HP:0001595	Abnormal hair morphology	4247	MGAT2	OMIM:212066
HP:0001595	Abnormal hair morphology	4247	MGAT2	ORPHA:79329
HP:0001595	Abnormal hair morphology	23476	BRD4	ORPHA:199
HP:0001595	Abnormal hair morphology	6878	TAF6	ORPHA:199
HP:0001595	Abnormal hair morphology	6878	TAF6	OMIM:617126
HP:0001595	Abnormal hair morphology	25836	NIPBL	ORPHA:199
HP:0001595	Abnormal hair morphology	25836	NIPBL	OMIM:122470
HP:0001595	Abnormal hair morphology	5885	RAD21	ORPHA:199
HP:0001595	Abnormal hair morphology	50801	KCNK4	OMIM:618381
HP:0001595	Abnormal hair morphology	10664	CTCF	ORPHA:363611
HP:0001595	Abnormal hair morphology	10664	CTCF	OMIM:615502
HP:0001595	Abnormal hair morphology	57003	CCDC47	OMIM:618268
HP:0001595	Abnormal hair morphology	149371	EXOC8	OMIM:619076
HP:0001595	Abnormal hair morphology	51633	OTUD6B	OMIM:617452
HP:0001595	Abnormal hair morphology	51633	OTUD6B	ORPHA:505237
HP:0001595	Abnormal hair morphology	2033	EP300	OMIM:180849
HP:0001595	Abnormal hair morphology	2033	EP300	OMIM:613684
HP:0001595	Abnormal hair morphology	1387	CREBBP	OMIM:180849
HP:0001595	Abnormal hair morphology	1387	CREBBP	ORPHA:592574
HP:0001595	Abnormal hair morphology	1387	CREBBP	OMIM:618332
HP:0001595	Abnormal hair morphology	1857	DVL3	ORPHA:3107
HP:0001595	Abnormal hair morphology	1857	DVL3	OMIM:616894
HP:0001595	Abnormal hair morphology	7474	WNT5A	ORPHA:3107
HP:0001595	Abnormal hair morphology	7474	WNT5A	OMIM:180700
HP:0001595	Abnormal hair morphology	2535	FZD2	ORPHA:3107
HP:0001595	Abnormal hair morphology	9681	DEPDC5	OMIM:620504
HP:0001595	Abnormal hair morphology	57282	SLC4A10	OMIM:620746
HP:0001595	Abnormal hair morphology	92609	TIMM50	OMIM:617698
HP:0001595	Abnormal hair morphology	85440	DOCK7	ORPHA:411986
HP:0001595	Abnormal hair morphology	85440	DOCK7	OMIM:615859
HP:0001595	Abnormal hair morphology	8405	SPOP	OMIM:618828
HP:0001595	Abnormal hair morphology	283209	PGM2L1	OMIM:620191
HP:0001595	Abnormal hair morphology	4094	MAF	ORPHA:1272
HP:0001595	Abnormal hair morphology	4089	SMAD4	OMIM:139210
HP:0001595	Abnormal hair morphology	51305	KCNK9	OMIM:612292
HP:0001595	Abnormal hair morphology	8567	MADD	OMIM:619005
HP:0001595	Abnormal hair morphology	1806	DPYD	ORPHA:1675
HP:0001595	Abnormal hair morphology	23261	CAMTA1	OMIM:614756
HP:0001595	Abnormal hair morphology	6605	SMARCE1	OMIM:616938
HP:0001595	Abnormal hair morphology	60	ACTB	OMIM:620475
HP:0001595	Abnormal hair morphology	55343	SLC35C1	ORPHA:99843
HP:0001595	Abnormal hair morphology	55691	FRMD4A	OMIM:616819
HP:0001595	Abnormal hair morphology	55691	FRMD4A	ORPHA:466688
HP:0001595	Abnormal hair morphology	5495	PPM1B	ORPHA:163693
HP:0001595	Abnormal hair morphology	6519	SLC3A1	ORPHA:163693
HP:0001595	Abnormal hair morphology	9581	PREPL	ORPHA:163693
HP:0001595	Abnormal hair morphology	79823	CAMKMT	ORPHA:163693
HP:0001595	Abnormal hair morphology	55252	ASXL2	OMIM:617190
HP:0001595	Abnormal hair morphology	10463	SLC30A9	OMIM:617595
HP:0001595	Abnormal hair morphology	26047	CNTNAP2	OMIM:610042
HP:0001595	Abnormal hair morphology	57479	PRR12	OMIM:619539
HP:0001595	Abnormal hair morphology	738	VPS51	OMIM:618606
HP:0001595	Abnormal hair morphology	4848	CNOT2	OMIM:618608
HP:0001595	Abnormal hair morphology	29071	C1GALT1C1	OMIM:301110
HP:0001595	Abnormal hair morphology	84842	HPDL	OMIM:619026
HP:0001595	Abnormal hair morphology	5881	RAC3	OMIM:618577
HP:0001595	Abnormal hair morphology	672	BRCA1	OMIM:617883
HP:0001595	Abnormal hair morphology	9181	ARHGEF2	OMIM:617523
HP:0001595	Abnormal hair morphology	1642	DDB1	OMIM:619426
HP:0001595	Abnormal hair morphology	7407	VARS1	OMIM:617802
HP:0001595	Abnormal hair morphology	6664	SOX11	OMIM:615866
HP:0001595	Abnormal hair morphology	283450	HECTD4	OMIM:620250
HP:0001595	Abnormal hair morphology	90952	ESAM	OMIM:620371
HP:0001595	Abnormal hair morphology	6663	SOX10	ORPHA:163746
HP:0001595	Abnormal hair morphology	6663	SOX10	ORPHA:897
HP:0001595	Abnormal hair morphology	5189	PEX1	ORPHA:3220
HP:0001595	Abnormal hair morphology	5190	PEX6	ORPHA:3220
HP:0001595	Abnormal hair morphology	5590	PRKCZ	ORPHA:1606
HP:0001595	Abnormal hair morphology	2563	GABRD	ORPHA:1606
HP:0001595	Abnormal hair morphology	23013	SPEN	ORPHA:1606
HP:0001595	Abnormal hair morphology	8510	MMP23B	ORPHA:1606
HP:0001595	Abnormal hair morphology	7798	LUZP1	ORPHA:1606
HP:0001595	Abnormal hair morphology	6497	SKI	ORPHA:1606
HP:0001595	Abnormal hair morphology	10630	PDPN	ORPHA:1606
HP:0001595	Abnormal hair morphology	3339	HSPG2	ORPHA:1606
HP:0001595	Abnormal hair morphology	3339	HSPG2	ORPHA:800
HP:0001595	Abnormal hair morphology	10277	UBE4B	ORPHA:1606
HP:0001595	Abnormal hair morphology	8514	KCNAB2	ORPHA:1606
HP:0001595	Abnormal hair morphology	473	RERE	ORPHA:1606
HP:0001595	Abnormal hair morphology	63976	PRDM16	ORPHA:1606
HP:0001595	Abnormal hair morphology	54897	CASZ1	ORPHA:1606
HP:0001595	Abnormal hair morphology	2200	FBN1	ORPHA:969
HP:0001595	Abnormal hair morphology	4054	LTBP3	ORPHA:969
HP:0001595	Abnormal hair morphology	157570	ESCO2	ORPHA:2319
HP:0001595	Abnormal hair morphology	55630	SLC39A4	ORPHA:37
HP:0001595	Abnormal hair morphology	91179	SCARF2	OMIM:600920
HP:0001595	Abnormal hair morphology	55315	SLC29A3	ORPHA:168569
HP:0001595	Abnormal hair morphology	64132	XYLT2	ORPHA:85194
HP:0001595	Abnormal hair morphology	1908	EDN3	ORPHA:897
HP:0001595	Abnormal hair morphology	1910	EDNRB	ORPHA:897
HP:0001595	Abnormal hair morphology	4035	LRP1	OMIM:604093
HP:0001595	Abnormal hair morphology	2255	FGF10	OMIM:620193
HP:0001595	Abnormal hair morphology	84172	POLR1B	ORPHA:861
HP:0001595	Abnormal hair morphology	9533	POLR1C	ORPHA:861
HP:0001595	Abnormal hair morphology	51082	POLR1D	ORPHA:861
HP:0001595	Abnormal hair morphology	9131	AIFM1	OMIM:300232
HP:0001595	Abnormal hair morphology	26128	KIFBP	OMIM:609460
HP:0001595	Abnormal hair morphology	9820	CUL7	ORPHA:2616
HP:0001595	Abnormal hair morphology	9820	CUL7	OMIM:273750
HP:0001595	Abnormal hair morphology	23363	OBSL1	ORPHA:2616
HP:0001595	Abnormal hair morphology	83987	CCDC8	ORPHA:2616
HP:0001595	Abnormal hair morphology	7021	TFAP2B	OMIM:169100
HP:0001595	Abnormal hair morphology	1788	DNMT3A	ORPHA:404443
HP:0001595	Abnormal hair morphology	1788	DNMT3A	OMIM:615879
HP:0001595	Abnormal hair morphology	10479	SLC9A6	OMIM:300243
HP:0001595	Abnormal hair morphology	10479	SLC9A6	ORPHA:85278
HP:0001595	Abnormal hair morphology	1278	COL1A2	ORPHA:230851
HP:0001595	Abnormal hair morphology	23384	SPECC1L	ORPHA:1519
HP:0001595	Abnormal hair morphology	57082	KNL1	OMIM:604321
HP:0001595	Abnormal hair morphology	6197	RPS6KA3	OMIM:303600
HP:0001595	Abnormal hair morphology	25885	POLR1A	OMIM:616462
HP:0001595	Abnormal hair morphology	55699	IARS2	ORPHA:436174
HP:0001595	Abnormal hair morphology	55699	IARS2	OMIM:616007
HP:0001595	Abnormal hair morphology	1009	CDH11	OMIM:619736
HP:0001595	Abnormal hair morphology	1009	CDH11	OMIM:211380
HP:0001595	Abnormal hair morphology	10015	PDCD6IP	OMIM:620047
HP:0001595	Abnormal hair morphology	4330	MN1	OMIM:618774
HP:0001595	Abnormal hair morphology	55148	UBR7	OMIM:619189
HP:0001595	Abnormal hair morphology	23461	ABCA5	ORPHA:2026
HP:0001595	Abnormal hair morphology	253738	EBF3	OMIM:617330
HP:0001595	Abnormal hair morphology	1182	CLCN3	OMIM:619512
HP:0001595	Abnormal hair morphology	388662	SLC6A17	ORPHA:457212
HP:0001595	Abnormal hair morphology	4613	MYCN	OMIM:620748
HP:0001595	Abnormal hair morphology	55280	CWF19L1	OMIM:616127
HP:0001595	Abnormal hair morphology	26053	AUTS2	OMIM:615834
HP:0001595	Abnormal hair morphology	5593	PRKG2	OMIM:619636
HP:0001595	Abnormal hair morphology	285362	SUMF1	ORPHA:585
HP:0001595	Abnormal hair morphology	5700	PSMC1	OMIM:620071
HP:0001595	Abnormal hair morphology	54828	BCAS3	OMIM:619641
HP:0001595	Abnormal hair morphology	253959	RALGAPA1	OMIM:618797
HP:0001595	Abnormal hair morphology	81887	LAS1L	ORPHA:3459
HP:0001595	Abnormal hair morphology	81887	LAS1L	OMIM:309585
HP:0001595	Abnormal hair morphology	668	FOXL2	ORPHA:572333
HP:0001595	Abnormal hair morphology	4208	MEF2C	ORPHA:228384
HP:0001595	Abnormal hair morphology	8242	KDM5C	OMIM:300534
HP:0001595	Abnormal hair morphology	23162	MAPK8IP3	OMIM:618443
HP:0001595	Abnormal hair morphology	7355	SLC35A2	OMIM:300896
HP:0001595	Abnormal hair morphology	54941	RNF125	OMIM:616260
HP:0001595	Abnormal hair morphology	79718	TBL1XR1	OMIM:616944
HP:0001595	Abnormal hair morphology	51322	WAC	OMIM:616708
HP:0001595	Abnormal hair morphology	51322	WAC	ORPHA:466950
HP:0001595	Abnormal hair morphology	79791	FBXO31	OMIM:615979
HP:0001595	Abnormal hair morphology	84295	PHF6	ORPHA:127
HP:0001595	Abnormal hair morphology	8621	CDK13	OMIM:617360
HP:0001595	Abnormal hair morphology	11338	U2AF2	OMIM:620535
HP:0001595	Abnormal hair morphology	3720	JARID2	OMIM:620098
HP:0001595	Abnormal hair morphology	11160	ERLIN2	ORPHA:280384
HP:0001595	Abnormal hair morphology	11160	ERLIN2	ORPHA:209951
HP:0001595	Abnormal hair morphology	5979	RET	OMIM:162300
HP:0001595	Abnormal hair morphology	6885	MAP3K7	OMIM:617137
HP:0001595	Abnormal hair morphology	57520	HECW2	OMIM:617268
HP:0001595	Abnormal hair morphology	6492	SIM1	ORPHA:171829
HP:0001595	Abnormal hair morphology	83479	DDX59	OMIM:174300
HP:0001595	Abnormal hair morphology	54808	DYM	OMIM:223800
HP:0001595	Abnormal hair morphology	4784	NFIX	OMIM:602535
HP:0001595	Abnormal hair morphology	10588	MTHFS	OMIM:618367
HP:0001595	Abnormal hair morphology	4125	MAN2B1	OMIM:248500
HP:0001595	Abnormal hair morphology	8091	HMGA2	ORPHA:94063
HP:0001595	Abnormal hair morphology	23592	LEMD3	ORPHA:94063
HP:0001595	Abnormal hair morphology	5718	PSMD12	ORPHA:529962
HP:0001595	Abnormal hair morphology	2186	BPTF	ORPHA:529962
HP:0001595	Abnormal hair morphology	6304	SATB1	OMIM:619229
HP:0001595	Abnormal hair morphology	54551	MAGEL2	OMIM:615547
HP:0001595	Abnormal hair morphology	6874	TAF4	OMIM:620450
HP:0001595	Abnormal hair morphology	6711	SPTBN1	OMIM:619475
HP:0001595	Abnormal hair morphology	10815	CPLX1	OMIM:617976
HP:0001595	Abnormal hair morphology	2517	FUCA1	OMIM:230000
HP:0001595	Abnormal hair morphology	54361	WNT4	ORPHA:247768
HP:0001595	Abnormal hair morphology	50937	CDON	OMIM:614226
HP:0001595	Abnormal hair morphology	3425	IDUA	ORPHA:93473
HP:0001595	Abnormal hair morphology	2131	EXT1	ORPHA:502
HP:0001595	Abnormal hair morphology	7227	TRPS1	ORPHA:502
HP:0001595	Abnormal hair morphology	7204	TRIO	OMIM:617061
HP:0001595	Abnormal hair morphology	54880	BCOR	OMIM:300166
HP:0001595	Abnormal hair morphology	55617	TASP1	OMIM:618950
HP:0001595	Abnormal hair morphology	23067	SETD1B	OMIM:619000
HP:0001595	Abnormal hair morphology	114928	GPRASP2	OMIM:301018
HP:0001595	Abnormal hair morphology	57688	ZSWIM6	OMIM:617865
HP:0001595	Abnormal hair morphology	2799	GNS	OMIM:252940
HP:0001595	Abnormal hair morphology	2273	FHL1	OMIM:300280
HP:0001595	Abnormal hair morphology	54888	NSUN2	OMIM:611091
HP:0001595	Abnormal hair morphology	55023	PHIP	OMIM:617991
HP:0001595	Abnormal hair morphology	2990	GUSB	OMIM:253220
HP:0001595	Abnormal hair morphology	51594	NBAS	OMIM:614800
HP:0001595	Abnormal hair morphology	9469	CHST3	OMIM:245600
HP:0001595	Abnormal hair morphology	26229	B3GAT3	OMIM:245600
HP:0001595	Abnormal hair morphology	129285	PPP1R21	OMIM:619383
HP:0001595	Abnormal hair morphology	55553	SOX6	OMIM:618971
HP:0001595	Abnormal hair morphology	55331	ACER3	OMIM:617762
HP:0001595	Abnormal hair morphology	8626	TP63	ORPHA:1896
HP:0001595	Abnormal hair morphology	10844	TUBGCP2	OMIM:618737
HP:0001595	Abnormal hair morphology	58508	KMT2C	OMIM:617768
HP:0001595	Abnormal hair morphology	3480	IGF1R	OMIM:270450
HP:0001595	Abnormal hair morphology	10466	COG5	ORPHA:263487
HP:0001595	Abnormal hair morphology	5286	PIK3C2A	ORPHA:557003
HP:0001595	Abnormal hair morphology	8092	ALX1	OMIM:613456
HP:0001595	Abnormal hair morphology	8092	ALX1	ORPHA:306542
HP:0001595	Abnormal hair morphology	51611	DPH5	OMIM:620070
HP:0001595	Abnormal hair morphology	4763	NF1	ORPHA:139474
HP:0001595	Abnormal hair morphology	90121	TSR2	OMIM:300946
HP:0001595	Abnormal hair morphology	23241	PACS2	OMIM:618067
HP:0001595	Abnormal hair morphology	7360	UGP2	OMIM:618744
HP:0001595	Abnormal hair morphology	7109	TRAPPC10	OMIM:620027
HP:0001595	Abnormal hair morphology	10300	KATNB1	OMIM:616212
HP:0001595	Abnormal hair morphology	7552	ZNF711	OMIM:300803
HP:0001595	Abnormal hair morphology	318	NUDT2	OMIM:619844
HP:0001595	Abnormal hair morphology	2314	FLII	ORPHA:819
HP:0001595	Abnormal hair morphology	23096	IQSEC2	ORPHA:819
HP:0001595	Abnormal hair morphology	10743	RAI1	ORPHA:819
HP:0001595	Abnormal hair morphology	10743	RAI1	OMIM:182290
HP:0001595	Abnormal hair morphology	10522	DEAF1	ORPHA:819
HP:0001595	Abnormal hair morphology	5818	NECTIN1	ORPHA:3253
HP:0001595	Abnormal hair morphology	26153	KIF26A	OMIM:620156
HP:0001595	Abnormal hair morphology	83696	TRAPPC9	OMIM:613192
HP:0001595	Abnormal hair morphology	83696	TRAPPC9	ORPHA:352530
HP:0001595	Abnormal hair morphology	55870	ASH1L	OMIM:617796
HP:0001595	Abnormal hair morphology	3899	AFF3	OMIM:619297
HP:0001595	Abnormal hair morphology	83871	RAB34	OMIM:620718
HP:0001595	Abnormal hair morphology	114034	TOE1	OMIM:614969
HP:0001595	Abnormal hair morphology	83550	GPR101	ORPHA:963
HP:0001595	Abnormal hair morphology	171023	ASXL1	ORPHA:97297
HP:0001595	Abnormal hair morphology	23347	SMCHD1	OMIM:603457
HP:0001595	Abnormal hair morphology	10087	CERT1	OMIM:616351
HP:0001595	Abnormal hair morphology	84504	NKX6-2	OMIM:617560
HP:0001595	Abnormal hair morphology	23036	ZNF292	OMIM:619188
HP:0001595	Abnormal hair morphology	3340	NDST1	OMIM:616116
HP:0001595	Abnormal hair morphology	79813	EHMT1	OMIM:610253
HP:0001595	Abnormal hair morphology	79813	EHMT1	ORPHA:96147
HP:0001595	Abnormal hair morphology	84300	UQCC2	OMIM:615824
HP:0001595	Abnormal hair morphology	3192	HNRNPU	ORPHA:238769
HP:0001595	Abnormal hair morphology	26038	CHD5	OMIM:619873
HP:0001595	Abnormal hair morphology	55621	TRMT1	OMIM:618302
HP:0001595	Abnormal hair morphology	8558	CDK10	OMIM:617694
HP:0001595	Abnormal hair morphology	5727	PTCH1	OMIM:610828
HP:0001595	Abnormal hair morphology	55027	HEATR3	OMIM:620072
HP:0001595	Abnormal hair morphology	26137	ZBTB20	OMIM:259050
HP:0001595	Abnormal hair morphology	26137	ZBTB20	ORPHA:3042
HP:0001595	Abnormal hair morphology	56098	PCDHGC4	OMIM:619880
HP:0001595	Abnormal hair morphology	7358	UGDH	OMIM:618792
HP:0001595	Abnormal hair morphology	9772	TMEM94	OMIM:618316
HP:0001595	Abnormal hair morphology	11128	POLR3A	ORPHA:3455
HP:0001595	Abnormal hair morphology	2556	GABRA3	OMIM:301091
HP:0001595	Abnormal hair morphology	10430	TMEM147	OMIM:620075
HP:0001595	Abnormal hair morphology	7030	TFE3	OMIM:301066
HP:0001595	Abnormal hair morphology	6611	SMS	OMIM:309583
HP:0001595	Abnormal hair morphology	6611	SMS	ORPHA:3063
HP:0001595	Abnormal hair morphology	23219	FBXO28	OMIM:619777
HP:0001595	Abnormal hair morphology	22856	CHSY1	OMIM:605282
HP:0001595	Abnormal hair morphology	6509	SLC1A4	ORPHA:447997
HP:0001595	Abnormal hair morphology	7546	ZIC2	OMIM:609637
HP:0001595	Abnormal hair morphology	2703	GJA8	OMIM:612474
HP:0001595	Abnormal hair morphology	2702	GJA5	OMIM:612474
HP:0001595	Abnormal hair morphology	22907	DHX30	OMIM:617804
HP:0001595	Abnormal hair morphology	7319	UBE2A	ORPHA:163956
HP:0001595	Abnormal hair morphology	7319	UBE2A	OMIM:300860
HP:0001595	Abnormal hair morphology	81603	TRIM8	OMIM:619428
HP:0001595	Abnormal hair morphology	835	CASP2	OMIM:620653
HP:0001595	Abnormal hair morphology	140679	SLC32A1	OMIM:620774
HP:0001595	Abnormal hair morphology	6888	TALDO1	OMIM:606003
HP:0001595	Abnormal hair morphology	6448	SGSH	OMIM:252900
HP:0001595	Abnormal hair morphology	8473	OGT	OMIM:300997
HP:0001595	Abnormal hair morphology	51621	KLF13	OMIM:612001
HP:0001595	Abnormal hair morphology	1139	CHRNA7	OMIM:612001
HP:0001595	Abnormal hair morphology	5648	MASP1	OMIM:257920
HP:0001595	Abnormal hair morphology	55628	ZNF407	OMIM:619557
HP:0001595	Abnormal hair morphology	23028	KDM1A	OMIM:616728
HP:0001595	Abnormal hair morphology	23028	KDM1A	ORPHA:477993
HP:0001595	Abnormal hair morphology	113179	ADAT3	ORPHA:363528
HP:0001595	Abnormal hair morphology	55209	SETD5	OMIM:615761
HP:0001595	Abnormal hair morphology	23030	KDM4B	OMIM:619320
HP:0001595	Abnormal hair morphology	3313	HSPA9	OMIM:616854
HP:0001595	Abnormal hair morphology	7453	WARS1	OMIM:620317
HP:0001595	Abnormal hair morphology	998	CDC42	OMIM:616737
HP:0001595	Abnormal hair morphology	998	CDC42	ORPHA:487796
HP:0001595	Abnormal hair morphology	3097	HIVEP2	OMIM:616977
HP:0001595	Abnormal hair morphology	10982	MAPRE2	OMIM:616734
HP:0001595	Abnormal hair morphology	4131	MAP1B	OMIM:618918
HP:0001595	Abnormal hair morphology	9969	MED13	OMIM:618009
HP:0001595	Abnormal hair morphology	1000	CDH2	OMIM:618929
HP:0001595	Abnormal hair morphology	2248	FGF3	ORPHA:90024
HP:0001595	Abnormal hair morphology	6792	CDKL5	ORPHA:505652
HP:0001595	Abnormal hair morphology	80185	TTI2	OMIM:615541
HP:0001595	Abnormal hair morphology	80185	TTI2	ORPHA:391307
HP:0001595	Abnormal hair morphology	26040	SETBP1	OMIM:616078
HP:0001595	Abnormal hair morphology	5332	PLCB4	OMIM:620458
HP:0001595	Abnormal hair morphology	1974	EIF4A2	OMIM:620455
HP:0001595	Abnormal hair morphology	10771	ZMYND11	OMIM:616083
HP:0001595	Abnormal hair morphology	5702	PSMC3	OMIM:619354
HP:0001595	Abnormal hair morphology	1457	CSNK2A1	OMIM:617062
HP:0001595	Abnormal hair morphology	23556	PIGN	ORPHA:280633
HP:0001595	Abnormal hair morphology	9508	ADAMTS3	OMIM:618154
HP:0001595	Abnormal hair morphology	118924	FRA10AC1	OMIM:620113
HP:0001595	Abnormal hair morphology	93587	TRMT10A	ORPHA:391408
HP:0001595	Abnormal hair morphology	84919	PPP1R15B	ORPHA:391408
HP:0001595	Abnormal hair morphology	6329	SCN4A	OMIM:620351
HP:0001595	Abnormal hair morphology	6329	SCN4A	OMIM:620369
HP:0001595	Abnormal hair morphology	403	ARL3	OMIM:618161
HP:0001595	Abnormal hair morphology	6904	TBCD	OMIM:617193
HP:0001595	Abnormal hair morphology	5879	RAC1	OMIM:617751
HP:0001595	Abnormal hair morphology	10020	GNE	OMIM:269921
HP:0001595	Abnormal hair morphology	650	BMP2	OMIM:617877
HP:0001595	Abnormal hair morphology	23133	PHF8	ORPHA:85287
HP:0001595	Abnormal hair morphology	23133	PHF8	OMIM:300263
HP:0001595	Abnormal hair morphology	54187	NANS	OMIM:610442
HP:0001595	Abnormal hair morphology	138050	HGSNAT	OMIM:252930
HP:0001595	Abnormal hair morphology	3778	KCNMA1	OMIM:618729
HP:0001595	Abnormal hair morphology	64802	NMNAT1	OMIM:619260
HP:0001595	Abnormal hair morphology	11141	IL1RAPL1	OMIM:300143
HP:0001595	Abnormal hair morphology	284361	EMC10	OMIM:619264
HP:0001595	Abnormal hair morphology	4669	NAGLU	OMIM:252920
HP:0001595	Abnormal hair morphology	9898	UBAP2L	OMIM:620494
HP:0001595	Abnormal hair morphology	91949	COG7	OMIM:608779
HP:0001595	Abnormal hair morphology	4558	MT-TF	ORPHA:550
HP:0001595	Abnormal hair morphology	4572	MT-TQ	ORPHA:550
HP:0001595	Abnormal hair morphology	4512	MT-CO1	ORPHA:550
HP:0001595	Abnormal hair morphology	4513	MT-CO2	ORPHA:550
HP:0001595	Abnormal hair morphology	4514	MT-CO3	ORPHA:550
HP:0001595	Abnormal hair morphology	4578	MT-TW	ORPHA:550
HP:0001595	Abnormal hair morphology	4540	MT-ND5	ORPHA:550
HP:0001595	Abnormal hair morphology	4541	MT-ND6	ORPHA:550
HP:0001595	Abnormal hair morphology	4535	MT-ND1	ORPHA:550
HP:0001595	Abnormal hair morphology	4538	MT-ND4	ORPHA:550
HP:0001595	Abnormal hair morphology	4567	MT-TL1	ORPHA:550
HP:0001595	Abnormal hair morphology	4574	MT-TS1	ORPHA:550
HP:0001595	Abnormal hair morphology	4575	MT-TS2	ORPHA:550
HP:0001595	Abnormal hair morphology	4564	MT-TH	ORPHA:550
HP:0001595	Abnormal hair morphology	2355	FOSL2	OMIM:620789
HP:0001595	Abnormal hair morphology	128869	PIGU	OMIM:618590
HP:0001595	Abnormal hair morphology	9630	GNA14	ORPHA:1063
HP:0001595	Abnormal hair morphology	55967	NDUFA12	OMIM:618244
HP:0001595	Abnormal hair morphology	22930	RAB3GAP1	OMIM:600118
HP:0001595	Abnormal hair morphology	84133	ZNRF3	ORPHA:1501
HP:0001595	Abnormal hair morphology	7157	TP53	ORPHA:1501
HP:0001595	Abnormal hair morphology	1499	CTNNB1	ORPHA:1501
HP:0001595	Abnormal hair morphology	633	BGN	OMIM:300989
HP:0001595	Abnormal hair morphology	57231	SNX14	OMIM:616354
HP:0001595	Abnormal hair morphology	51729	WBP11	OMIM:619227
HP:0001595	Abnormal hair morphology	5498	PPOX	ORPHA:79473
HP:0001595	Abnormal hair morphology	1075	CTSC	ORPHA:678
HP:0001595	Abnormal hair morphology	1798	DPAGT1	ORPHA:86309
HP:0001595	Abnormal hair morphology	3572	IL6ST	OMIM:619750
HP:0001595	Abnormal hair morphology	22931	RAB18	OMIM:614222
HP:0001595	Abnormal hair morphology	6660	SOX5	ORPHA:626
HP:0001595	Abnormal hair morphology	238	ALK	ORPHA:626
HP:0001595	Abnormal hair morphology	150468	CKAP2L	OMIM:272440
HP:0001595	Abnormal hair morphology	5293	PIK3CD	ORPHA:221139
HP:0001595	Abnormal hair morphology	90417	KNSTRN	ORPHA:221139
HP:0001595	Abnormal hair morphology	79796	ALG9	ORPHA:79328
HP:0001595	Abnormal hair morphology	10293	TRAIP	OMIM:616777
HP:0001595	Abnormal hair morphology	641	BLM	OMIM:210900
HP:0001595	Abnormal hair morphology	3423	IDS	OMIM:309900
HP:0001595	Abnormal hair morphology	2720	GLB1	OMIM:230500
HP:0001595	Abnormal hair morphology	5468	PPARG	ORPHA:528
HP:0001595	Abnormal hair morphology	10555	AGPAT2	ORPHA:528
HP:0001595	Abnormal hair morphology	284119	CAVIN1	ORPHA:528
HP:0001595	Abnormal hair morphology	26580	BSCL2	ORPHA:528
HP:0001595	Abnormal hair morphology	2353	FOS	ORPHA:528
HP:0001595	Abnormal hair morphology	857	CAV1	ORPHA:528
HP:0001595	Abnormal hair morphology	11011	TLK2	OMIM:618050
HP:0001595	Abnormal hair morphology	116150	NUS1	OMIM:617082
HP:0001595	Abnormal hair morphology	2719	GPC3	OMIM:312870
HP:0001595	Abnormal hair morphology	2239	GPC4	OMIM:312870
HP:0001595	Abnormal hair morphology	137492	VPS37A	OMIM:614898
HP:0001595	Abnormal hair morphology	23394	ADNP	ORPHA:404448
HP:0001595	Abnormal hair morphology	124997	WDR81	OMIM:610185
HP:0001595	Abnormal hair morphology	6650	CAPN15	OMIM:619318
HP:0001595	Abnormal hair morphology	2908	NR3C1	ORPHA:786
HP:0001595	Abnormal hair morphology	2908	NR3C1	ORPHA:96253
HP:0001595	Abnormal hair morphology	2908	NR3C1	OMIM:615962
HP:0001595	Abnormal hair morphology	411	ARSB	OMIM:253200
HP:0001595	Abnormal hair morphology	5447	POR	ORPHA:95699
HP:0001595	Abnormal hair morphology	55593	OTUD5	OMIM:301056
HP:0001595	Abnormal hair morphology	54453	RIN2	ORPHA:217335
HP:0001595	Abnormal hair morphology	3284	HSD3B2	ORPHA:90791
HP:0001595	Abnormal hair morphology	50940	PDE11A	ORPHA:1359
HP:0001595	Abnormal hair morphology	1584	CYP11B1	ORPHA:90795
HP:0001595	Abnormal hair morphology	84196	USP48	ORPHA:96253
HP:0001595	Abnormal hair morphology	9101	USP8	ORPHA:96253
HP:0001595	Abnormal hair morphology	9101	USP8	OMIM:219090
HP:0001595	Abnormal hair morphology	546	ATRX	ORPHA:96253
HP:0001595	Abnormal hair morphology	2530	FUT8	OMIM:618005
HP:0001595	Abnormal hair morphology	8913	CACNA1G	OMIM:618087
HP:0001595	Abnormal hair morphology	1020	CDK5	OMIM:616342
HP:0001595	Abnormal hair morphology	7965	AIMP2	OMIM:618006
HP:0001595	Abnormal hair morphology	79140	CCDC28B	OMIM:209900
HP:0001595	Abnormal hair morphology	11145	PLAAT3	OMIM:620683
HP:0001595	Abnormal hair morphology	4323	MMP14	OMIM:277950
HP:0001595	Abnormal hair morphology	4323	MMP14	ORPHA:371428
HP:0001595	Abnormal hair morphology	4313	MMP2	ORPHA:371428
HP:0001595	Abnormal hair morphology	4313	MMP2	OMIM:259600
HP:0001595	Abnormal hair morphology	9509	ADAMTS2	OMIM:225410
HP:0001595	Abnormal hair morphology	128637	TBC1D20	OMIM:615663
HP:0001595	Abnormal hair morphology	4214	MAP3K1	OMIM:613762
HP:0001595	Abnormal hair morphology	9563	H6PD	OMIM:604931
HP:0001595	Abnormal hair morphology	1267	CNP	OMIM:619071
HP:0001595	Abnormal hair morphology	6608	SMO	OMIM:601707
HP:0001595	Abnormal hair morphology	10526	IPO8	OMIM:619472
HP:0001595	Abnormal hair morphology	2737	GLI3	OMIM:175700
HP:0001595	Abnormal hair morphology	80232	WDR26	OMIM:617616
HP:0001595	Abnormal hair morphology	6134	RPL10	ORPHA:459070
HP:0001595	Abnormal hair morphology	9060	PAPSS2	OMIM:612847
HP:0001595	Abnormal hair morphology	5184	PEPD	ORPHA:742
HP:0001595	Abnormal hair morphology	10236	HNRNPR	OMIM:620073
HP:0001595	Abnormal hair morphology	57477	SHROOM4	ORPHA:85288
HP:0001595	Abnormal hair morphology	79798	ARMC5	ORPHA:189427
HP:0001595	Abnormal hair morphology	2778	GNAS	ORPHA:189427
HP:0001595	Abnormal hair morphology	6603	SMARCD2	OMIM:617475
HP:0001595	Abnormal hair morphology	1315	COPB1	OMIM:619255
HP:0001595	Abnormal hair morphology	64919	BCL11B	OMIM:617237
HP:0001595	Abnormal hair morphology	147372	CCBE1	OMIM:235510
HP:0001595	Abnormal hair morphology	5965	RECQL	OMIM:620370
HP:0001595	Abnormal hair morphology	84823	LMNB2	OMIM:608709
HP:0001595	Abnormal hair morphology	63915	BLOC1S5	OMIM:619172
HP:0001595	Abnormal hair morphology	8943	AP3D1	OMIM:617050
HP:0001595	Abnormal hair morphology	11152	WDR45	OMIM:615179
HP:0001595	Abnormal hair morphology	83938	LRMDA	OMIM:615179
HP:0001595	Abnormal hair morphology	8546	AP3B1	OMIM:608233
HP:0001595	Abnormal hair morphology	89781	HPS4	OMIM:614073
HP:0001595	Abnormal hair morphology	11234	HPS5	OMIM:614074
HP:0001595	Abnormal hair morphology	388552	BLOC1S3	OMIM:614077
HP:0001595	Abnormal hair morphology	79803	HPS6	OMIM:614075
HP:0001595	Abnormal hair morphology	84062	DTNBP1	OMIM:614076
HP:0001595	Abnormal hair morphology	2706	GJB2	OMIM:148210
HP:0001595	Abnormal hair morphology	54892	NCAPG2	OMIM:618460
HP:0001595	Abnormal hair morphology	59344	ALOXE3	OMIM:242100
HP:0001595	Abnormal hair morphology	242	ALOX12B	OMIM:242100
HP:0001595	Abnormal hair morphology	2074	ERCC6	OMIM:133540
HP:0001595	Abnormal hair morphology	3858	KRT10	OMIM:607602
HP:0001595	Abnormal hair morphology	5333	PLCD1	OMIM:151600
HP:0001595	Abnormal hair morphology	91754	NEK9	ORPHA:64754
HP:0001595	Abnormal hair morphology	79719	AAGAB	OMIM:148600
HP:0001595	Abnormal hair morphology	8517	IKBKG	ORPHA:464
HP:0001595	Abnormal hair morphology	23630	KCNE5	ORPHA:86818
HP:0001595	Abnormal hair morphology	2182	ACSL4	ORPHA:86818
HP:0001595	Abnormal hair morphology	9949	AMMECR1	ORPHA:86818
HP:0001595	Abnormal hair morphology	3709	ITPR2	OMIM:106190
HP:0001595	Abnormal hair morphology	6716	SRD5A2	OMIM:264600
HP:0001595	Abnormal hair morphology	1747	DLX3	OMIM:190320
HP:0001595	Abnormal hair morphology	5167	ENPP1	OMIM:615522
HP:0001595	Abnormal hair morphology	3832	KIF11	ORPHA:2526
HP:0001595	Abnormal hair morphology	472	ATM	OMIM:208900
HP:0001595	Abnormal hair morphology	8314	BAP1	ORPHA:618
HP:0001595	Abnormal hair morphology	4286	MITF	ORPHA:618
HP:0001595	Abnormal hair morphology	1019	CDK4	ORPHA:618
HP:0001595	Abnormal hair morphology	4255	MGMT	ORPHA:618
HP:0001595	Abnormal hair morphology	54386	TERF2IP	ORPHA:618
HP:0001595	Abnormal hair morphology	4157	MC1R	ORPHA:618
HP:0001595	Abnormal hair morphology	65057	ACD	ORPHA:618
HP:0001595	Abnormal hair morphology	1029	CDKN2A	ORPHA:618
HP:0001595	Abnormal hair morphology	7015	TERT	ORPHA:618
HP:0001595	Abnormal hair morphology	25913	POT1	ORPHA:618
HP:0001595	Abnormal hair morphology	1030	CDKN2B	ORPHA:618
HP:0001595	Abnormal hair morphology	488	ATP2A2	ORPHA:218
HP:0001595	Abnormal hair morphology	10269	ZMPSTE24	ORPHA:90154
HP:0001595	Abnormal hair morphology	29957	SLC25A24	ORPHA:2963
HP:0001595	Abnormal hair morphology	4942	OAT	ORPHA:414
HP:0001595	Abnormal hair morphology	4014	LORICRIN	OMIM:604117
HP:0001595	Abnormal hair morphology	5077	PAX3	ORPHA:894
HP:0001595	Abnormal hair morphology	4854	NOTCH3	ORPHA:2591
HP:0001595	Abnormal hair morphology	5159	PDGFRB	ORPHA:2591
HP:0001595	Abnormal hair morphology	51360	MBTPS2	ORPHA:2273
HP:0001595	Abnormal hair morphology	3889	KRT83	OMIM:617756
HP:0001595	Abnormal hair morphology	6774	STAT3	ORPHA:2314
HP:0001595	Abnormal hair morphology	3973	LHCGR	ORPHA:3000
HP:0001595	Abnormal hair morphology	92344	GORAB	OMIM:231070
HP:0001595	Abnormal hair morphology	4683	NBN	ORPHA:647
HP:0001595	Abnormal hair morphology	128178	EDARADD	ORPHA:248
HP:0001595	Abnormal hair morphology	80326	WNT10A	ORPHA:248
HP:0001595	Abnormal hair morphology	10913	EDAR	ORPHA:248
HP:0001595	Abnormal hair morphology	1476	CSTB	ORPHA:248
HP:0001595	Abnormal hair morphology	224	ALDH3A2	OMIM:270200
HP:0001595	Abnormal hair morphology	1832	DSP	OMIM:612908
HP:0001595	Abnormal hair morphology	1832	DSP	ORPHA:50942
HP:0001595	Abnormal hair morphology	5083	PAX9	OMIM:604625
HP:0001595	Abnormal hair morphology	79644	SRD5A3	ORPHA:324737
HP:0001595	Abnormal hair morphology	3265	HRAS	ORPHA:3071
HP:0001595	Abnormal hair morphology	5566	PRKACA	ORPHA:289
HP:0001595	Abnormal hair morphology	5567	PRKACB	ORPHA:289
HP:0001595	Abnormal hair morphology	2735	GLI1	ORPHA:289
HP:0001595	Abnormal hair morphology	2121	EVC	ORPHA:289
HP:0001595	Abnormal hair morphology	51626	DYNC2LI1	ORPHA:289
HP:0001595	Abnormal hair morphology	132884	EVC2	ORPHA:289
HP:0001595	Abnormal hair morphology	1828	DSG1	ORPHA:50942
HP:0001595	Abnormal hair morphology	3848	KRT1	ORPHA:50942
HP:0001595	Abnormal hair morphology	3848	KRT1	OMIM:607654
HP:0001595	Abnormal hair morphology	54795	TRPM4	OMIM:618531
HP:0001595	Abnormal hair morphology	118429	ANTXR2	ORPHA:2028
HP:0001595	Abnormal hair morphology	51702	PADI3	ORPHA:1410
HP:0001595	Abnormal hair morphology	7053	TGM3	ORPHA:1410
HP:0001595	Abnormal hair morphology	80781	COL18A1	ORPHA:1571
HP:0001595	Abnormal hair morphology	5062	PAK2	ORPHA:1571
HP:0001595	Abnormal hair morphology	2697	GJA1	ORPHA:317
HP:0001595	Abnormal hair morphology	2707	GJB3	ORPHA:317
HP:0001595	Abnormal hair morphology	2531	KDSR	ORPHA:317
HP:0001595	Abnormal hair morphology	127534	GJB4	ORPHA:317
HP:0001595	Abnormal hair morphology	4000	LMNA	ORPHA:79474
HP:0001595	Abnormal hair morphology	6023	RMRP	OMIM:250460
HP:0001595	Abnormal hair morphology	11005	SPINK5	ORPHA:634
HP:0001595	Abnormal hair morphology	3106	HLA-B	ORPHA:397
HP:0001595	Abnormal hair morphology	3123	HLA-DRB1	ORPHA:397
HP:0001595	Abnormal hair morphology	3123	HLA-DRB1	ORPHA:536
HP:0001595	Abnormal hair morphology	3123	HLA-DRB1	ORPHA:797
HP:0001595	Abnormal hair morphology	8974	P4HA2	ORPHA:397
HP:0001595	Abnormal hair morphology	7421	VDR	ORPHA:93160
HP:0001595	Abnormal hair morphology	4791	NFKB2	ORPHA:293978
HP:0001595	Abnormal hair morphology	51099	ABHD5	OMIM:275630
HP:0001595	Abnormal hair morphology	51099	ABHD5	ORPHA:98907
HP:0001595	Abnormal hair morphology	3909	LAMA3	ORPHA:79404
HP:0001595	Abnormal hair morphology	3918	LAMC2	ORPHA:79404
HP:0001595	Abnormal hair morphology	3914	LAMB3	ORPHA:79404
HP:0001595	Abnormal hair morphology	162	AP1B1	OMIM:242150
HP:0001595	Abnormal hair morphology	4790	NFKB1	OMIM:616576
HP:0001595	Abnormal hair morphology	54345	SOX18	ORPHA:69735
HP:0001595	Abnormal hair morphology	54345	SOX18	OMIM:607823
HP:0001595	Abnormal hair morphology	54345	SOX18	OMIM:137940
HP:0001595	Abnormal hair morphology	3141	HLCS	OMIM:253270
HP:0001595	Abnormal hair morphology	3141	HLCS	ORPHA:79242
HP:0001595	Abnormal hair morphology	90	ACVR1	OMIM:135100
HP:0001595	Abnormal hair morphology	90	ACVR1	ORPHA:337
HP:0001595	Abnormal hair morphology	7780	SLC30A2	OMIM:608118
HP:0001595	Abnormal hair morphology	50814	NSDHL	OMIM:308050
HP:0001595	Abnormal hair morphology	686	BTD	OMIM:253260
HP:0001595	Abnormal hair morphology	686	BTD	ORPHA:79241
HP:0001595	Abnormal hair morphology	3117	HLA-DQA1	OMIM:212750
HP:0001595	Abnormal hair morphology	3119	HLA-DQB1	OMIM:212750
HP:0001595	Abnormal hair morphology	64087	MCCC2	OMIM:210210
HP:0001595	Abnormal hair morphology	5191	PEX7	OMIM:215100
HP:0001595	Abnormal hair morphology	374393	FAM111B	OMIM:615704
HP:0001595	Abnormal hair morphology	165	AEBP1	ORPHA:536532
HP:0001595	Abnormal hair morphology	55131	RBM28	ORPHA:157954
HP:0001595	Abnormal hair morphology	55131	RBM28	OMIM:612079
HP:0001595	Abnormal hair morphology	5339	PLEC	OMIM:616487
HP:0001595	Abnormal hair morphology	5339	PLEC	ORPHA:257
HP:0001595	Abnormal hair morphology	23312	DMXL2	ORPHA:453533
HP:0001595	Abnormal hair morphology	8456	FOXN1	OMIM:601705
HP:0001595	Abnormal hair morphology	1909	EDNRA	OMIM:616367
HP:0001595	Abnormal hair morphology	51284	TLR7	OMIM:301080
HP:0001595	Abnormal hair morphology	51284	TLR7	ORPHA:536
HP:0001595	Abnormal hair morphology	4256	MGP	ORPHA:85202
HP:0001595	Abnormal hair morphology	2512	FTL	OMIM:615604
HP:0001595	Abnormal hair morphology	326	AIRE	ORPHA:3453
HP:0001595	Abnormal hair morphology	326	AIRE	OMIM:240300
HP:0001595	Abnormal hair morphology	695	BTK	ORPHA:47
HP:0001595	Abnormal hair morphology	84168	ANTXR1	OMIM:230740
HP:0001595	Abnormal hair morphology	84168	ANTXR1	ORPHA:2067
HP:0001595	Abnormal hair morphology	50943	FOXP3	ORPHA:37042
HP:0001595	Abnormal hair morphology	50943	FOXP3	OMIM:304790
HP:0001595	Abnormal hair morphology	5654	HTRA1	OMIM:600142
HP:0001595	Abnormal hair morphology	1493	CTLA4	ORPHA:2584
HP:0001595	Abnormal hair morphology	1493	CTLA4	ORPHA:536
HP:0001595	Abnormal hair morphology	1493	CTLA4	ORPHA:3162
HP:0001595	Abnormal hair morphology	940	CD28	ORPHA:2584
HP:0001595	Abnormal hair morphology	940	CD28	ORPHA:3162
HP:0001595	Abnormal hair morphology	7133	TNFRSF1B	ORPHA:2584
HP:0001595	Abnormal hair morphology	7133	TNFRSF1B	ORPHA:3162
HP:0001595	Abnormal hair morphology	78987	CRELD1	OMIM:620771
HP:0001595	Abnormal hair morphology	7873	MANF	OMIM:620651
HP:0001595	Abnormal hair morphology	7507	XPA	ORPHA:910
HP:0001595	Abnormal hair morphology	7508	XPC	ORPHA:910
HP:0001595	Abnormal hair morphology	1643	DDB2	ORPHA:910
HP:0001595	Abnormal hair morphology	2072	ERCC4	ORPHA:910
HP:0001595	Abnormal hair morphology	2073	ERCC5	ORPHA:910
HP:0001595	Abnormal hair morphology	2767	GNA11	ORPHA:428
HP:0001595	Abnormal hair morphology	846	CASR	ORPHA:428
HP:0001595	Abnormal hair morphology	6775	STAT4	ORPHA:93552
HP:0001595	Abnormal hair morphology	6775	STAT4	ORPHA:536
HP:0001595	Abnormal hair morphology	6696	SPP1	ORPHA:93552
HP:0001595	Abnormal hair morphology	6696	SPP1	ORPHA:536
HP:0001595	Abnormal hair morphology	6303	SAT1	ORPHA:93552
HP:0001595	Abnormal hair morphology	3654	IRAK1	ORPHA:93552
HP:0001595	Abnormal hair morphology	3654	IRAK1	ORPHA:536
HP:0001595	Abnormal hair morphology	1294	COL7A1	OMIM:226600
HP:0001595	Abnormal hair morphology	8882	ZPR1	OMIM:619321
HP:0001595	Abnormal hair morphology	4953	ODC1	ORPHA:544488
HP:0001595	Abnormal hair morphology	162514	TRPV3	ORPHA:659
HP:0001595	Abnormal hair morphology	114798	SLITRK1	OMIM:613229
HP:0001595	Abnormal hair morphology	2215	FCGR3B	ORPHA:536
HP:0001595	Abnormal hair morphology	3684	ITGAM	ORPHA:536
HP:0001595	Abnormal hair morphology	3586	IL10	ORPHA:536
HP:0001595	Abnormal hair morphology	221895	JAZF1	ORPHA:536
HP:0001595	Abnormal hair morphology	11277	TREX1	ORPHA:536
HP:0001595	Abnormal hair morphology	7292	TNFSF4	ORPHA:536
HP:0001595	Abnormal hair morphology	640	BLK	ORPHA:536
HP:0001595	Abnormal hair morphology	720	C4A	ORPHA:536
HP:0001595	Abnormal hair morphology	55024	BANK1	ORPHA:536
HP:0001595	Abnormal hair morphology	3500	IGHG1	ORPHA:536
HP:0001595	Abnormal hair morphology	1380	CR2	ORPHA:536
HP:0001595	Abnormal hair morphology	5133	PDCD1	ORPHA:536
HP:0001595	Abnormal hair morphology	2113	ETS1	ORPHA:536
HP:0001595	Abnormal hair morphology	2213	FCGR2B	ORPHA:536
HP:0001595	Abnormal hair morphology	10318	TNIP1	ORPHA:536
HP:0001595	Abnormal hair morphology	7332	UBE2L3	ORPHA:536
HP:0001595	Abnormal hair morphology	79932	KIAA0319L	ORPHA:536
HP:0001595	Abnormal hair morphology	4204	MECP2	ORPHA:536
HP:0001595	Abnormal hair morphology	3663	IRF5	ORPHA:536
HP:0001595	Abnormal hair morphology	721	C4B	ORPHA:536
HP:0001595	Abnormal hair morphology	1773	DNASE1	ORPHA:536
HP:0001595	Abnormal hair morphology	54899	PXK	ORPHA:536
HP:0001595	Abnormal hair morphology	7128	TNFAIP3	ORPHA:536
HP:0001595	Abnormal hair morphology	164656	TMPRSS6	ORPHA:209981
HP:0001595	Abnormal hair morphology	545	ATR	OMIM:614564
HP:0001595	Abnormal hair morphology	22845	DOLK	OMIM:610768
HP:0001595	Abnormal hair morphology	23328	SASH1	OMIM:618373
HP:0001595	Abnormal hair morphology	57572	DOCK6	OMIM:614219
HP:0001595	Abnormal hair morphology	57572	DOCK6	ORPHA:974
HP:0001595	Abnormal hair morphology	3868	KRT16	ORPHA:2309
HP:0001595	Abnormal hair morphology	3853	KRT6A	ORPHA:2309
HP:0001595	Abnormal hair morphology	3854	KRT6B	ORPHA:2309
HP:0001595	Abnormal hair morphology	56244	BTNL2	ORPHA:797
HP:0001595	Abnormal hair morphology	3077	HFE	OMIM:235200
HP:0001595	Abnormal hair morphology	54800	KLHL24	OMIM:617294
HP:0001595	Abnormal hair morphology	57514	ARHGAP31	OMIM:100300
HP:0001595	Abnormal hair morphology	57514	ARHGAP31	ORPHA:974
HP:0001595	Abnormal hair morphology	5580	PRKCD	OMIM:615559
HP:0001595	Abnormal hair morphology	3122	HLA-DRA	ORPHA:505
HP:0001595	Abnormal hair morphology	10283	CWC27	OMIM:250410
HP:0001595	Abnormal hair morphology	10283	CWC27	ORPHA:166035
HP:0001595	Abnormal hair morphology	147495	APCDD1	ORPHA:55654
HP:0001595	Abnormal hair morphology	3516	RBPJ	ORPHA:974
HP:0001595	Abnormal hair morphology	4851	NOTCH1	ORPHA:974
HP:0001595	Abnormal hair morphology	285203	EOGT	ORPHA:974
HP:0001595	Abnormal hair morphology	54567	DLL4	ORPHA:974
HP:0001595	Abnormal hair morphology	9076	CLDN1	OMIM:607626
HP:0001595	Abnormal hair morphology	84905	ZNF341	OMIM:618282
HP:0001595	Abnormal hair morphology	5295	PIK3R1	ORPHA:3163
HP:0001595	Abnormal hair morphology	10273	STUB1	ORPHA:412057
HP:0001595	Abnormal hair morphology	8815	BANF1	OMIM:614008
HP:0001595	Abnormal hair morphology	5699	PSMB10	OMIM:620807
HP:0001595	Abnormal hair morphology	204219	CERS3	ORPHA:79394
HP:0001595	Abnormal hair morphology	285848	PNPLA1	ORPHA:79394
HP:0001595	Abnormal hair morphology	3852	KRT5	ORPHA:79396
HP:0001595	Abnormal hair morphology	3852	KRT5	ORPHA:79397
HP:0001595	Abnormal hair morphology	3861	KRT14	ORPHA:79396
HP:0001595	Abnormal hair morphology	3861	KRT14	ORPHA:79397
HP:0001595	Abnormal hair morphology	161742	SPRED1	OMIM:611431
HP:0001595	Abnormal hair morphology	6928	HNF1B	ORPHA:2578
HP:0001595	Abnormal hair morphology	392255	GDF6	OMIM:118100
HP:0001595	Abnormal hair morphology	392255	GDF6	ORPHA:2345
HP:0001595	Abnormal hair morphology	79005	SCNM1	OMIM:620107
HP:0001595	Abnormal hair morphology	28952	CCDC22	OMIM:300963
HP:0001595	Abnormal hair morphology	4849	CNOT3	OMIM:618672
HP:0001595	Abnormal hair morphology	226	ALDOA	OMIM:611881
HP:0001595	Abnormal hair morphology	4222	MEOX1	OMIM:214300
HP:0001595	Abnormal hair morphology	4222	MEOX1	ORPHA:2345
HP:0001595	Abnormal hair morphology	80267	EDEM3	OMIM:619493
HP:0001595	Abnormal hair morphology	9897	WASHC5	OMIM:220210
HP:0001595	Abnormal hair morphology	84700	MYO18B	OMIM:616549
HP:0001595	Abnormal hair morphology	4621	MYH3	ORPHA:2990
HP:0001595	Abnormal hair morphology	1146	CHRNG	ORPHA:2990
HP:0001595	Abnormal hair morphology	79087	ALG12	ORPHA:79324
HP:0001595	Abnormal hair morphology	9573	GDF3	ORPHA:2345
HP:0001595	Abnormal hair morphology	27152	INTU	OMIM:617925
HP:0001595	Abnormal hair morphology	10075	HUWE1	OMIM:309590
HP:0001595	Abnormal hair morphology	5728	PTEN	OMIM:605309
HP:0001595	Abnormal hair morphology	6720	SREBF1	OMIM:158310
HP:0001595	Abnormal hair morphology	84520	GON7	OMIM:619603
HP:0001595	Abnormal hair morphology	50485	SMARCAL1	OMIM:242900
HP:0001595	Abnormal hair morphology	10484	SEC23A	ORPHA:50814
HP:0001595	Abnormal hair morphology	10484	SEC23A	OMIM:607812
HP:0001595	Abnormal hair morphology	523	ATP6V1A	ORPHA:357074
HP:0001595	Abnormal hair morphology	529	ATP6V1E1	ORPHA:357074
HP:0001595	Abnormal hair morphology	10848	PPP1R13L	OMIM:620519
HP:0001595	Abnormal hair morphology	10295	BCKDK	OMIM:614923
HP:0001595	Abnormal hair morphology	497661	C18orf32	OMIM:619985
HP:0001595	Abnormal hair morphology	8985	PLOD3	OMIM:612394
HP:0001595	Abnormal hair morphology	2316	FLNA	OMIM:309350
HP:0001595	Abnormal hair morphology	54084	TSPEAR	OMIM:618180
HP:0001595	Abnormal hair morphology	1763	DNA2	OMIM:620819
HP:0001595	Abnormal hair morphology	1763	DNA2	ORPHA:808
HP:0001595	Abnormal hair morphology	10054	UBA2	OMIM:619959
HP:0001595	Abnormal hair morphology	775	CACNA1C	OMIM:620029
HP:0001595	Abnormal hair morphology	267010	RNU12	OMIM:603116
HP:0001595	Abnormal hair morphology	1801	DPH1	OMIM:616901
HP:0001595	Abnormal hair morphology	1801	DPH1	ORPHA:459061
HP:0001595	Abnormal hair morphology	7703	PCGF2	OMIM:618371
HP:0001595	Abnormal hair morphology	9896	FIG4	ORPHA:3472
HP:0001595	Abnormal hair morphology	9896	FIG4	OMIM:216340
HP:0001595	Abnormal hair morphology	55697	VAC14	ORPHA:3472
HP:0001595	Abnormal hair morphology	4914	NTRK1	OMIM:256800
HP:0001595	Abnormal hair morphology	9419	CRIPT	OMIM:615789
HP:0001595	Abnormal hair morphology	79669	C3orf52	OMIM:620177
HP:0001595	Abnormal hair morphology	11285	B4GALT7	ORPHA:75496
HP:0001595	Abnormal hair morphology	11285	B4GALT7	OMIM:130070
HP:0001595	Abnormal hair morphology	1802	DPH2	OMIM:620062
HP:0001595	Abnormal hair morphology	1802	DPH2	ORPHA:459061
HP:0001595	Abnormal hair morphology	79971	WLS	OMIM:619648
HP:0001595	Abnormal hair morphology	84946	LTV1	OMIM:620199
HP:0001595	Abnormal hair morphology	1062	CENPE	ORPHA:808
HP:0001595	Abnormal hair morphology	5932	RBBP8	ORPHA:808
HP:0001595	Abnormal hair morphology	79902	NUP85	ORPHA:808
HP:0001595	Abnormal hair morphology	84126	ATRIP	ORPHA:808
HP:0001595	Abnormal hair morphology	22995	CEP152	ORPHA:808
HP:0001595	Abnormal hair morphology	9742	IFT140	OMIM:266920
HP:0001595	Abnormal hair morphology	64858	DCLRE1B	OMIM:620133
HP:0001595	Abnormal hair morphology	56896	DPYSL5	OMIM:619435
HP:0001595	Abnormal hair morphology	8239	USP9X	ORPHA:480880
HP:0001595	Abnormal hair morphology	3188	HNRNPH2	OMIM:300986
HP:0001595	Abnormal hair morphology	2475	MTOR	ORPHA:457485
HP:0001595	Abnormal hair morphology	2475	MTOR	OMIM:616638
HP:0001595	Abnormal hair morphology	4487	MSX1	OMIM:189500
HP:0001595	Abnormal hair morphology	4487	MSX1	ORPHA:2228
HP:0001595	Abnormal hair morphology	60529	ALX4	OMIM:613451
HP:0001595	Abnormal hair morphology	60529	ALX4	ORPHA:228390
HP:0001595	Abnormal hair morphology	2972	BRF1	OMIM:616202
HP:0001595	Abnormal hair morphology	2972	BRF1	ORPHA:444072
HP:0001595	Abnormal hair morphology	5831	PYCR1	OMIM:614438
HP:0001595	Abnormal hair morphology	4952	OCRL	ORPHA:534
HP:0001595	Abnormal hair morphology	79158	GNPTAB	ORPHA:576
HP:0001595	Abnormal hair morphology	51132	RLIM	OMIM:300978
HP:0001595	Abnormal hair morphology	9698	PUM1	OMIM:620719
HP:0001595	Abnormal hair morphology	215	ABCD1	ORPHA:139399
HP:0001595	Abnormal hair morphology	55764	IFT122	OMIM:218330
HP:0001595	Abnormal hair morphology	6821	SUOX	OMIM:272300
HP:0001595	Abnormal hair morphology	9056	SLC7A7	OMIM:222700
HP:0001595	Abnormal hair morphology	11193	WBP4	OMIM:620852
HP:0001595	Abnormal hair morphology	7840	ALMS1	ORPHA:64
HP:0001595	Abnormal hair morphology	3675	ITGA3	OMIM:614748
HP:0001595	Abnormal hair morphology	284252	KCTD1	OMIM:181270
HP:0001595	Abnormal hair morphology	57459	GATAD2B	ORPHA:363686
HP:0001595	Abnormal hair morphology	23522	KAT6B	ORPHA:85201
HP:0001595	Abnormal hair morphology	54676	GTPBP2	OMIM:617988
HP:0001595	Abnormal hair morphology	9968	MED12	OMIM:305450
HP:0001595	Abnormal hair morphology	2146	EZH2	OMIM:277590
HP:0001595	Abnormal hair morphology	2146	EZH2	ORPHA:3447
HP:0001595	Abnormal hair morphology	3242	HPD	ORPHA:2118
HP:0001595	Abnormal hair morphology	64324	NSD1	ORPHA:3447
HP:0001595	Abnormal hair morphology	23512	SUZ12	ORPHA:3447
HP:0001595	Abnormal hair morphology	80067	DCAF17	OMIM:241080
HP:0001595	Abnormal hair morphology	23309	SIN3B	ORPHA:500166
HP:0001595	Abnormal hair morphology	112752	IFT43	OMIM:614099
HP:0001595	Abnormal hair morphology	79633	FAT4	ORPHA:2136
HP:0001595	Abnormal hair morphology	6926	TBX3	OMIM:181450
HP:0001595	Abnormal hair morphology	83932	SPRTN	OMIM:616200
HP:0001595	Abnormal hair morphology	1161	ERCC8	ORPHA:90324
HP:0001595	Abnormal hair morphology	79991	STN1	OMIM:617341
HP:0001595	Abnormal hair morphology	6117	RPA1	OMIM:619767
HP:0001595	Abnormal hair morphology	7299	TYR	ORPHA:895
HP:0001595	Abnormal hair morphology	4254	KITLG	ORPHA:895
HP:0001595	Abnormal hair morphology	4254	KITLG	OMIM:619947
HP:0001595	Abnormal hair morphology	4193	MDM2	OMIM:618681
HP:0001595	Abnormal hair morphology	9675	TTI1	OMIM:620445
HP:0001595	Abnormal hair morphology	79184	BRCC3	ORPHA:280679
HP:0001595	Abnormal hair morphology	3643	INSR	ORPHA:769
HP:0001595	Abnormal hair morphology	92345	NAF1	OMIM:620365
HP:0001595	Abnormal hair morphology	7020	TFAP2A	OMIM:113620
HP:0001595	Abnormal hair morphology	7020	TFAP2A	ORPHA:1297
HP:0001595	Abnormal hair morphology	4507	MTAP	OMIM:112250
HP:0001595	Abnormal hair morphology	8884	SLC5A6	OMIM:619903
HP:0001595	Abnormal hair morphology	5696	PSMB8	OMIM:256040
HP:0001595	Abnormal hair morphology	91039	DPP9	OMIM:620331
HP:0001595	Abnormal hair morphology	5873	RAB27A	ORPHA:79477
HP:0001595	Abnormal hair morphology	7025	NR2F1	OMIM:615722
HP:0001595	Abnormal hair morphology	145173	B3GLCT	OMIM:261540
HP:0001595	Abnormal hair morphology	348	APOE	OMIM:269600
HP:0001595	Abnormal hair morphology	1829	DSG2	OMIM:610193
HP:0001595	Abnormal hair morphology	25959	KANK2	OMIM:616099
HP:0001595	Abnormal hair morphology	64065	PERP	OMIM:619209
HP:0001595	Abnormal hair morphology	64065	PERP	OMIM:619208
HP:0001595	Abnormal hair morphology	1824	DSC2	OMIM:610476
HP:0001595	Abnormal hair morphology	7286	TUFT1	OMIM:620415
HP:0001595	Abnormal hair morphology	3730	ANOS1	OMIM:308700
HP:0001595	Abnormal hair morphology	2488	FSHB	ORPHA:52901
HP:0001595	Abnormal hair morphology	3972	LHB	OMIM:228300
HP:0001595	Abnormal hair morphology	1528	CYB5A	ORPHA:90796
HP:0001595	Abnormal hair morphology	1586	CYP17A1	ORPHA:90796
HP:0001595	Abnormal hair morphology	285025	CCDC141	OMIM:146110
HP:0001595	Abnormal hair morphology	10011	SRA1	OMIM:146110
HP:0001595	Abnormal hair morphology	2796	GNRH1	OMIM:146110
HP:0001595	Abnormal hair morphology	81848	SPRY4	OMIM:146110
HP:0001595	Abnormal hair morphology	389549	FEZF1	OMIM:146110
HP:0001595	Abnormal hair morphology	55717	WDR11	OMIM:146110
HP:0001595	Abnormal hair morphology	8822	FGF17	OMIM:146110
HP:0001595	Abnormal hair morphology	558	AXL	OMIM:146110
HP:0001595	Abnormal hair morphology	1848	DUSP6	OMIM:146110
HP:0001595	Abnormal hair morphology	2798	GNRHR	OMIM:146110
HP:0001595	Abnormal hair morphology	190	NR0B1	ORPHA:95702
HP:0001595	Abnormal hair morphology	190	NR0B1	ORPHA:251510
HP:0001595	Abnormal hair morphology	6662	SOX9	ORPHA:251510
HP:0001595	Abnormal hair morphology	6845	VAMP7	ORPHA:251510
HP:0001595	Abnormal hair morphology	51741	WWOX	ORPHA:251510
HP:0001595	Abnormal hair morphology	7490	WT1	ORPHA:251510
HP:0001595	Abnormal hair morphology	57647	DHX37	ORPHA:251510
HP:0001595	Abnormal hair morphology	6736	SRY	ORPHA:251510
HP:0001595	Abnormal hair morphology	23414	ZFPM2	ORPHA:251510
HP:0001595	Abnormal hair morphology	2626	GATA4	ORPHA:251510
HP:0001595	Abnormal hair morphology	23594	ORC6	OMIM:613803
HP:0001595	Abnormal hair morphology	1308	COL17A1	ORPHA:251393
HP:0001595	Abnormal hair morphology	79083	MLPH	OMIM:609227
HP:0001595	Abnormal hair morphology	4948	OCA2	ORPHA:79432
HP:0001595	Abnormal hair morphology	7306	TYRP1	ORPHA:79433
HP:0001595	Abnormal hair morphology	6591	SNAI2	ORPHA:2884
HP:0001595	Abnormal hair morphology	3815	KIT	ORPHA:2884
HP:0001595	Abnormal hair morphology	4644	MYO5A	OMIM:214450
HP:0001595	Abnormal hair morphology	207	AKT1	ORPHA:744
HP:0001595	Abnormal hair morphology	63916	ELMO2	ORPHA:3019
HP:0001595	Abnormal hair morphology	3664	IRF6	ORPHA:1300
HP:0001595	Abnormal hair morphology	25782	RAB3GAP2	ORPHA:2510
HP:0001595	Abnormal hair morphology	8604	SLC25A12	OMIM:612949
HP:0001595	Abnormal hair morphology	203068	TUBB	ORPHA:2505
HP:0001595	Abnormal hair morphology	8803	SUCLA2	ORPHA:1933
HP:0001595	Abnormal hair morphology	1588	CYP19A1	ORPHA:91
HP:0001595	Abnormal hair morphology	128674	PROKR2	ORPHA:432
HP:0001595	Abnormal hair morphology	2253	FGF8	ORPHA:432
HP:0001595	Abnormal hair morphology	60675	PROK2	ORPHA:432
HP:0001595	Abnormal hair morphology	6870	TACR3	ORPHA:432
HP:0001595	Abnormal hair morphology	26012	NSMF	ORPHA:432
HP:0001595	Abnormal hair morphology	4808	NHLH2	ORPHA:432
HP:0001595	Abnormal hair morphology	9394	HS6ST1	ORPHA:432
HP:0001595	Abnormal hair morphology	84634	KISS1R	ORPHA:432
HP:0001595	Abnormal hair morphology	6866	TAC3	ORPHA:432
HP:0001595	Abnormal hair morphology	3814	KISS1	ORPHA:432
HP:0001595	Abnormal hair morphology	2332	FMR1	ORPHA:261483
HP:0001595	Abnormal hair morphology	28755	TRAC	OMIM:615387
HP:0001595	Abnormal hair morphology	3559	IL2RA	OMIM:606367
HP:0001595	Abnormal hair morphology	324	APC	ORPHA:261584
HP:0001595	Abnormal hair morphology	7062	TCHH	OMIM:617252
HP:0001595	Abnormal hair morphology	8139	GAN	ORPHA:643
HP:0001595	Abnormal hair morphology	815	CAMK2A	OMIM:617798
HP:0001595	Abnormal hair morphology	100033413	SNORD116-1	OMIM:176270
HP:0001595	Abnormal hair morphology	8924	HERC2	OMIM:176270
HP:0001595	Abnormal hair morphology	23742	NPAP1	OMIM:176270
HP:0001595	Abnormal hair morphology	338433	SNORD115-1	OMIM:176270
HP:0001595	Abnormal hair morphology	7681	MKRN3	OMIM:176270
HP:0001595	Abnormal hair morphology	145624	PWAR1	OMIM:176270
HP:0001595	Abnormal hair morphology	3653	IPW	OMIM:176270
HP:0001595	Abnormal hair morphology	791114	PWRN1	OMIM:176270
HP:0001595	Abnormal hair morphology	27086	FOXP1	ORPHA:391372
HP:0001595	Abnormal hair morphology	9758	FRMPD4	OMIM:300983
HP:0001595	Abnormal hair morphology	5277	PIGA	OMIM:300868
HP:0001595	Abnormal hair morphology	26503	SLC17A5	OMIM:269920
HP:0001595	Abnormal hair morphology	283652	SLC24A5	OMIM:113750
HP:0001595	Abnormal hair morphology	20	ABCA2	OMIM:618808
HP:0001595	Abnormal hair morphology	6901	TAFAZZIN	OMIM:302060
HP:0001595	Abnormal hair morphology	7555	CNBP	OMIM:602668
HP:0001595	Abnormal hair morphology	1760	DMPK	OMIM:160900
HP:0001595	Abnormal hair morphology	6513	SLC2A1	ORPHA:1942
HP:0001595	Abnormal hair morphology	8831	SYNGAP1	ORPHA:1942
HP:0001595	Abnormal hair morphology	1173	AP2M1	ORPHA:1942
HP:0001595	Abnormal hair morphology	6323	SCN1A	ORPHA:1942
HP:0001595	Abnormal hair morphology	340533	NEXMIF	ORPHA:1942
HP:0001595	Abnormal hair morphology	1106	CHD2	ORPHA:1942
HP:0001595	Abnormal hair morphology	6529	SLC6A1	ORPHA:1942
HP:0001595	Abnormal hair morphology	1893	ECM1	ORPHA:530
HP:0001595	Abnormal hair morphology	3691	ITGB4	OMIM:619816
HP:0001595	Abnormal hair morphology	10999	SLC27A4	OMIM:608649
HP:0001595	Abnormal hair morphology	5122	PCSK1	ORPHA:71528
HP:0001595	Abnormal hair morphology	5573	PRKAR1A	OMIM:160980
HP:0001595	Abnormal hair morphology	5144	PDE4D	OMIM:614613
HP:0001595	Abnormal hair morphology	5443	POMC	OMIM:609734
HP:0001595	Abnormal hair morphology	5443	POMC	ORPHA:71526
HP:0001595	Abnormal hair morphology	3229	HOXC13	OMIM:614931
HP:0001595	Abnormal hair morphology	64840	PORCN	OMIM:305600
HP:0001595	Abnormal hair morphology	51095	TRNT1	OMIM:616084
HP:0001595	Abnormal hair morphology	10084	PQBP1	ORPHA:93947
HP:0001595	Abnormal hair morphology	10084	PQBP1	OMIM:309500
HP:0001595	Abnormal hair morphology	83999	KREMEN1	OMIM:617392
HP:0001595	Abnormal hair morphology	4358	MPV17	OMIM:256810
HP:0001595	Abnormal hair morphology	875	CBS	OMIM:236200
HP:0001595	Abnormal hair morphology	222663	SCUBE3	OMIM:619184
HP:0001595	Abnormal hair morphology	55210	ATAD3A	OMIM:618810
HP:0001595	Abnormal hair morphology	11198	SUPT16H	ORPHA:261229
HP:0001595	Abnormal hair morphology	57680	CHD8	ORPHA:261229
HP:0001595	Abnormal hair morphology	10128	LRPPRC	OMIM:220111
HP:0001595	Abnormal hair morphology	58499	ZNF462	ORPHA:502430
HP:0001595	Abnormal hair morphology	58499	ZNF462	OMIM:618619
HP:0001595	Abnormal hair morphology	8294	H4C9	OMIM:619951
HP:0001595	Abnormal hair morphology	50651	SLC45A1	OMIM:617532
HP:0001595	Abnormal hair morphology	23334	SZT2	OMIM:615476
HP:0001595	Abnormal hair morphology	55627	SMPD4	OMIM:618622
HP:0001595	Abnormal hair morphology	613	BCR	ORPHA:261330
HP:0001595	Abnormal hair morphology	1399	CRKL	ORPHA:261330
HP:0001595	Abnormal hair morphology	5594	MAPK1	ORPHA:261330
HP:0001595	Abnormal hair morphology	5594	MAPK1	OMIM:619087
HP:0001595	Abnormal hair morphology	23322	RPGRIP1L	ORPHA:220497
HP:0001595	Abnormal hair morphology	23322	RPGRIP1L	ORPHA:1454
HP:0001595	Abnormal hair morphology	4867	NPHP1	ORPHA:220497
HP:0001595	Abnormal hair morphology	65062	TMEM237	ORPHA:220497
HP:0001595	Abnormal hair morphology	65062	TMEM237	ORPHA:475
HP:0001595	Abnormal hair morphology	65062	TMEM237	OMIM:614424
HP:0001595	Abnormal hair morphology	65062	TMEM237	ORPHA:2318
HP:0001595	Abnormal hair morphology	54806	AHI1	ORPHA:220493
HP:0001595	Abnormal hair morphology	54806	AHI1	ORPHA:475
HP:0001595	Abnormal hair morphology	54806	AHI1	OMIM:608629
HP:0001595	Abnormal hair morphology	56623	INPP5E	ORPHA:220493
HP:0001595	Abnormal hair morphology	56623	INPP5E	ORPHA:475
HP:0001595	Abnormal hair morphology	56623	INPP5E	OMIM:213300
HP:0001595	Abnormal hair morphology	56623	INPP5E	ORPHA:1454
HP:0001595	Abnormal hair morphology	153241	CEP120	ORPHA:220493
HP:0001595	Abnormal hair morphology	153241	CEP120	ORPHA:475
HP:0001595	Abnormal hair morphology	54903	MKS1	ORPHA:220493
HP:0001595	Abnormal hair morphology	54903	MKS1	ORPHA:475
HP:0001595	Abnormal hair morphology	54903	MKS1	OMIM:617121
HP:0001595	Abnormal hair morphology	95681	CEP41	ORPHA:220493
HP:0001595	Abnormal hair morphology	95681	CEP41	ORPHA:475
HP:0001595	Abnormal hair morphology	80055	PGAP1	OMIM:615802
HP:0001595	Abnormal hair morphology	24142	NAA80	OMIM:620830
HP:0001595	Abnormal hair morphology	29072	SETD2	OMIM:620157
HP:0001595	Abnormal hair morphology	29072	SETD2	OMIM:620155
HP:0001595	Abnormal hair morphology	55780	ERMARD	ORPHA:75857
HP:0001595	Abnormal hair morphology	55636	CHD7	ORPHA:138
HP:0001595	Abnormal hair morphology	9723	SEMA3E	ORPHA:138
HP:0001595	Abnormal hair morphology	55650	PIGV	OMIM:239300
HP:0001595	Abnormal hair morphology	55650	PIGV	ORPHA:247262
HP:0001595	Abnormal hair morphology	1185	CLCN6	OMIM:619173
HP:0001595	Abnormal hair morphology	84992	PIGY	ORPHA:247262
HP:0001595	Abnormal hair morphology	84720	PIGO	ORPHA:247262
HP:0001595	Abnormal hair morphology	93210	PGAP3	ORPHA:247262
HP:0001595	Abnormal hair morphology	284098	PIGW	ORPHA:247262
HP:0001595	Abnormal hair morphology	27315	PGAP2	ORPHA:247262
HP:0001595	Abnormal hair morphology	9487	PIGL	ORPHA:247262
HP:0001595	Abnormal hair morphology	9487	PIGL	OMIM:280000
HP:0001595	Abnormal hair morphology	317662	FAM149B1	OMIM:618763
HP:0001595	Abnormal hair morphology	317662	FAM149B1	ORPHA:2754
HP:0001595	Abnormal hair morphology	10584	COLEC10	OMIM:248340
HP:0001595	Abnormal hair morphology	10584	COLEC10	ORPHA:293843
HP:0001595	Abnormal hair morphology	818	CAMK2G	OMIM:618522
HP:0001595	Abnormal hair morphology	23184	MESD	OMIM:618644
HP:0001595	Abnormal hair morphology	23325	WASHC4	OMIM:615817
HP:0001595	Abnormal hair morphology	9839	ZEB2	ORPHA:261552
HP:0001595	Abnormal hair morphology	54872	PIGG	ORPHA:280
HP:0001595	Abnormal hair morphology	7469	NELFA	ORPHA:280
HP:0001595	Abnormal hair morphology	1487	CTBP1	ORPHA:280
HP:0001595	Abnormal hair morphology	1487	CTBP1	OMIM:194190
HP:0001595	Abnormal hair morphology	3954	LETM1	ORPHA:280
HP:0001595	Abnormal hair morphology	3954	LETM1	OMIM:194190
HP:0001595	Abnormal hair morphology	7468	NSD2	ORPHA:280
HP:0001595	Abnormal hair morphology	7468	NSD2	OMIM:194190
HP:0001595	Abnormal hair morphology	7468	NSD2	OMIM:619695
HP:0001595	Abnormal hair morphology	1656	DDX6	OMIM:618653
HP:0001595	Abnormal hair morphology	4212	MEIS2	OMIM:600987
HP:0001595	Abnormal hair morphology	55012	PPP2R3C	OMIM:618419
HP:0001595	Abnormal hair morphology	1954	MEGF8	OMIM:614976
HP:0001595	Abnormal hair morphology	53834	FGFRL1	OMIM:194190
HP:0001595	Abnormal hair morphology	9851	KIAA0753	ORPHA:475
HP:0001595	Abnormal hair morphology	9851	KIAA0753	ORPHA:2754
HP:0001595	Abnormal hair morphology	5147	PDE6D	ORPHA:475
HP:0001595	Abnormal hair morphology	5147	PDE6D	ORPHA:2754
HP:0001595	Abnormal hair morphology	79600	TCTN1	ORPHA:475
HP:0001595	Abnormal hair morphology	79848	CSPP1	ORPHA:475
HP:0001595	Abnormal hair morphology	8481	OFD1	ORPHA:475
HP:0001595	Abnormal hair morphology	8481	OFD1	ORPHA:2754
HP:0001595	Abnormal hair morphology	51684	SUFU	ORPHA:475
HP:0001595	Abnormal hair morphology	65250	CPLANE1	ORPHA:475
HP:0001595	Abnormal hair morphology	65250	CPLANE1	ORPHA:2754
HP:0001595	Abnormal hair morphology	91147	TMEM67	ORPHA:475
HP:0001595	Abnormal hair morphology	91147	TMEM67	ORPHA:1454
HP:0001595	Abnormal hair morphology	200894	ARL13B	ORPHA:475
HP:0001595	Abnormal hair morphology	9731	CEP104	ORPHA:475
HP:0001595	Abnormal hair morphology	219844	HYLS1	ORPHA:475
HP:0001595	Abnormal hair morphology	23247	KATNIP	ORPHA:475
HP:0001595	Abnormal hair morphology	219854	TMEM218	ORPHA:475
HP:0001595	Abnormal hair morphology	9786	KIAA0586	ORPHA:475
HP:0001595	Abnormal hair morphology	26123	TCTN3	ORPHA:475
HP:0001595	Abnormal hair morphology	26123	TCTN3	ORPHA:2754
HP:0001595	Abnormal hair morphology	79867	TCTN2	ORPHA:475
HP:0001595	Abnormal hair morphology	80776	B9D2	ORPHA:475
HP:0001595	Abnormal hair morphology	10464	PIBF1	ORPHA:475
HP:0001595	Abnormal hair morphology	80210	ARMC9	ORPHA:475
HP:0001595	Abnormal hair morphology	23116	TOGARAM1	ORPHA:475
HP:0001595	Abnormal hair morphology	25776	CBY1	ORPHA:475
HP:0001595	Abnormal hair morphology	27077	B9D1	ORPHA:475
HP:0001595	Abnormal hair morphology	80173	IFT74	ORPHA:475
HP:0001595	Abnormal hair morphology	23126	POGZ	OMIM:616364
HP:0001595	Abnormal hair morphology	5792	PTPRF	OMIM:616001
HP:0001595	Abnormal hair morphology	8363	H4C11	OMIM:619759
HP:0001595	Abnormal hair morphology	78989	COLEC11	OMIM:265050
HP:0001595	Abnormal hair morphology	78989	COLEC11	ORPHA:293843
HP:0001595	Abnormal hair morphology	10472	ZBTB18	OMIM:612337
HP:0001595	Abnormal hair morphology	3187	HNRNPH1	OMIM:620083
HP:0001595	Abnormal hair morphology	8573	CASK	ORPHA:163937
HP:0001595	Abnormal hair morphology	4123	MAN2C1	OMIM:619775
HP:0001595	Abnormal hair morphology	23483	TGDS	ORPHA:1388
HP:0001595	Abnormal hair morphology	7994	KAT6A	OMIM:616268
HP:0001595	Abnormal hair morphology	85459	CEP295	OMIM:620767
HP:0001595	Abnormal hair morphology	8295	TRRAP	OMIM:618454
HP:0001595	Abnormal hair morphology	9427	ECEL1	OMIM:615065
HP:0001595	Abnormal hair morphology	84188	FAR1	OMIM:616154
HP:0001595	Abnormal hair morphology	84188	FAR1	ORPHA:438178
HP:0001595	Abnormal hair morphology	5910	RAP1GDS1	OMIM:620655
HP:0001595	Abnormal hair morphology	9900	SV2A	OMIM:620772
HP:0001595	Abnormal hair morphology	54517	PUS7	OMIM:618342
HP:0001595	Abnormal hair morphology	9759	HDAC4	ORPHA:1001
HP:0001595	Abnormal hair morphology	9759	HDAC4	OMIM:600430
HP:0001595	Abnormal hair morphology	92335	STRADA	ORPHA:500533
HP:0001595	Abnormal hair morphology	6091	ROBO1	OMIM:620305
HP:0001595	Abnormal hair morphology	84320	ACBD6	OMIM:620785
HP:0001595	Abnormal hair morphology	90459	ERI1	OMIM:620662
HP:0001595	Abnormal hair morphology	56975	FAM20C	OMIM:259775
HP:0001595	Abnormal hair morphology	166378	AFG2A	ORPHA:457351
HP:0001595	Abnormal hair morphology	23511	NUP188	OMIM:618804
HP:0001595	Abnormal hair morphology	26999	CYFIP2	OMIM:618008
HP:0001595	Abnormal hair morphology	79583	TMEM231	ORPHA:2318
HP:0001595	Abnormal hair morphology	79583	TMEM231	ORPHA:2754
HP:0001595	Abnormal hair morphology	51524	TMEM138	ORPHA:2318
HP:0001595	Abnormal hair morphology	23090	ZNF423	ORPHA:2318
HP:0001595	Abnormal hair morphology	80184	CEP290	ORPHA:2318
HP:0001595	Abnormal hair morphology	51259	TMEM216	ORPHA:2318
HP:0001595	Abnormal hair morphology	51259	TMEM216	ORPHA:2754
HP:0001595	Abnormal hair morphology	57545	CC2D2A	ORPHA:2318
HP:0001595	Abnormal hair morphology	57545	CC2D2A	ORPHA:1454
HP:0001595	Abnormal hair morphology	71	ACTG1	OMIM:614583
HP:0001595	Abnormal hair morphology	71	ACTG1	ORPHA:2995
HP:0001595	Abnormal hair morphology	348180	CTU2	OMIM:618142
HP:0001595	Abnormal hair morphology	94005	PIGS	OMIM:618143
HP:0001595	Abnormal hair morphology	4762	NEUROG1	OMIM:620469
HP:0001595	Abnormal hair morphology	2571	GAD1	OMIM:619124
HP:0001595	Abnormal hair morphology	6472	SHMT2	OMIM:619121
HP:0001595	Abnormal hair morphology	91875	TTC5	OMIM:619244
HP:0001595	Abnormal hair morphology	5500	PPP1CB	OMIM:617506
HP:0001595	Abnormal hair morphology	113246	C12orf57	OMIM:218340
HP:0001595	Abnormal hair morphology	259266	ASPM	OMIM:608716
HP:0001595	Abnormal hair morphology	57020	VPS35L	OMIM:619135
HP:0001595	Abnormal hair morphology	10210	TOPORS	ORPHA:2754
HP:0001595	Abnormal hair morphology	374654	KIF7	ORPHA:2754
HP:0001595	Abnormal hair morphology	9373	PLAA	OMIM:617527
HP:0001595	Abnormal hair morphology	617	BCS1L	OMIM:262000
HP:0001595	Abnormal hair morphology	81607	NECTIN4	OMIM:613573
HP:0001595	Abnormal hair morphology	538	ATP7A	OMIM:304150
HP:0001595	Abnormal hair morphology	7486	WRN	ORPHA:902
HP:0001595	Abnormal hair morphology	3891	KRT85	OMIM:602032
HP:0001595	Abnormal hair morphology	1001	CDH3	OMIM:601553
HP:0001595	Abnormal hair morphology	1001	CDH3	ORPHA:1573
HP:0001595	Abnormal hair morphology	2068	ERCC2	OMIM:601675
HP:0001595	Abnormal hair morphology	341208	HEPHL1	OMIM:261990
HP:0001595	Abnormal hair morphology	387	RHOA	OMIM:618727
HP:0001595	Abnormal hair morphology	4758	NEU1	ORPHA:93399
HP:0001595	Abnormal hair morphology	4758	NEU1	ORPHA:93400
HP:0001595	Abnormal hair morphology	10297	APC2	ORPHA:821
HP:0001595	Abnormal hair morphology	25778	DSTYK	OMIM:270750
HP:0001595	Abnormal hair morphology	5361	PLXNA1	OMIM:619955
HP:0001595	Abnormal hair morphology	57511	COG6	ORPHA:363523
HP:0001595	Abnormal hair morphology	10026	PIGK	OMIM:618879
HP:0001595	Abnormal hair morphology	51111	KMT5B	OMIM:617788
HP:0001595	Abnormal hair morphology	3190	HNRNPK	OMIM:616580
HP:0001595	Abnormal hair morphology	92255	LMBRD2	OMIM:619694
HP:0001595	Abnormal hair morphology	10524	KAT5	OMIM:619103
HP:0001595	Abnormal hair morphology	5813	PURA	ORPHA:314655
HP:0001595	Abnormal hair morphology	1497	CTNS	OMIM:219800
HP:0001595	Abnormal hair morphology	3257	HPS1	OMIM:203300
HP:0001595	Abnormal hair morphology	10804	GJB6	ORPHA:189
HP:0001595	Abnormal hair morphology	84343	HPS3	OMIM:614072
HP:0001595	Abnormal hair morphology	1638	DCT	OMIM:619165
HP:0001595	Abnormal hair morphology	1130	LYST	OMIM:214500
HP:0001595	Abnormal hair morphology	1130	LYST	ORPHA:167
HP:0001595	Abnormal hair morphology	5053	PAH	ORPHA:79254
HP:0001595	Abnormal hair morphology	6638	SNRPN	ORPHA:98754
HP:0001595	Abnormal hair morphology	6638	SNRPN	ORPHA:177904
HP:0001595	Abnormal hair morphology	6638	SNRPN	ORPHA:177901
HP:0001595	Abnormal hair morphology	6638	SNRPN	ORPHA:177910
HP:0001595	Abnormal hair morphology	6638	SNRPN	ORPHA:177907
HP:0001595	Abnormal hair morphology	6638	SNRPN	ORPHA:411515
HP:0001595	Abnormal hair morphology	4692	NDN	ORPHA:98754
HP:0001595	Abnormal hair morphology	4692	NDN	ORPHA:177904
HP:0001595	Abnormal hair morphology	4692	NDN	ORPHA:177901
HP:0001595	Abnormal hair morphology	4692	NDN	ORPHA:177910
HP:0001595	Abnormal hair morphology	7337	UBE3A	ORPHA:98794
HP:0001595	Abnormal hair morphology	7337	UBE3A	ORPHA:98795
HP:0001595	Abnormal hair morphology	7337	UBE3A	ORPHA:411511
HP:0001595	Abnormal hair morphology	7337	UBE3A	ORPHA:411515
HP:0001595	Abnormal hair morphology	57724	EPG5	OMIM:242840
HP:0001595	Abnormal hair morphology	51151	SLC45A2	OMIM:606574
HP:0001595	Abnormal hair morphology	51151	SLC45A2	ORPHA:79435
HP:0001595	Abnormal hair morphology	28956	LAMTOR2	ORPHA:90023
HP:0001595	Abnormal hair morphology	57194	ATP10A	ORPHA:411515
HP:0001595	Abnormal hair morphology	7386	UQCRFS1	OMIM:618775
HP:0001595	Abnormal hair morphology	6768	ST14	OMIM:602400
HP:0001595	Abnormal hair morphology	10735	STAG2	OMIM:301022
HP:0001595	Abnormal hair morphology	6949	TCOF1	OMIM:154500
HP:0001595	Abnormal hair morphology	2132	EXT2	OMIM:616682
HP:0001595	Abnormal hair morphology	81857	MED25	OMIM:616449
HP:0001595	Abnormal hair morphology	3021	H3-3B	OMIM:619721
HP:0001595	Abnormal hair morphology	89910	UBE3B	OMIM:244450
HP:0001595	Abnormal hair morphology	51098	IFT52	ORPHA:1515
HP:0001595	Abnormal hair morphology	57728	WDR19	ORPHA:1515
HP:0001595	Abnormal hair morphology	816	CAMK2B	OMIM:617799
HP:0001595	Abnormal hair morphology	54543	TOMM7	OMIM:620601
HP:0001595	Abnormal hair morphology	340061	STING1	OMIM:615934
HP:0001595	Abnormal hair morphology	8550	MAPKAPK5	OMIM:619869
HP:0001595	Abnormal hair morphology	1474	CST6	OMIM:618535
HP:0001595	Abnormal hair morphology	55623	THUMPD1	OMIM:619989
HP:0001595	Abnormal hair morphology	4792	NFKBIA	ORPHA:98813
HP:0001595	Abnormal hair morphology	4792	NFKBIA	OMIM:612132
HP:0001595	Abnormal hair morphology	5317	PKP1	OMIM:604536
HP:0001595	Abnormal hair morphology	5317	PKP1	ORPHA:158668
HP:0001595	Abnormal hair morphology	2934	GSN	ORPHA:85448
HP:0001595	Abnormal hair morphology	5832	ALDH18A1	OMIM:219150
HP:0001595	Abnormal hair morphology	5631	PRPS1	OMIM:300661
HP:0001595	Abnormal hair morphology	7189	TRAF6	ORPHA:1810
HP:0001595	Abnormal hair morphology	1825	DSC3	OMIM:613102
HP:0001595	Abnormal hair morphology	10940	POP1	OMIM:617396
HP:0001595	Abnormal hair morphology	54496	PRMT7	OMIM:617157
HP:0001595	Abnormal hair morphology	63035	BCORL1	OMIM:301029
HP:0001595	Abnormal hair morphology	10265	IRX5	OMIM:611174
HP:0001595	Abnormal hair morphology	1301	COL11A1	ORPHA:560
HP:0001595	Abnormal hair morphology	3977	LIFR	OMIM:601559
HP:0001595	Abnormal hair morphology	4700	NDUFA6	OMIM:618253
HP:0001595	Abnormal hair morphology	79827	CLMP	ORPHA:2301
HP:0001595	Abnormal hair morphology	9791	PTDSS1	OMIM:151050
HP:0001595	Abnormal hair morphology	490	ATP2B1	OMIM:619910
HP:0001595	Abnormal hair morphology	4329	ALDH6A1	OMIM:614105
HP:0001595	Abnormal hair morphology	10651	MTX2	OMIM:619127
HP:0001595	Abnormal hair morphology	9702	CEP57	OMIM:614114
HP:0001595	Abnormal hair morphology	7480	WNT10B	OMIM:617073
HP:0001595	Abnormal hair morphology	7518	XRCC4	OMIM:616541
HP:0001595	Abnormal hair morphology	5297	PI4KA	ORPHA:436252
HP:0001595	Abnormal hair morphology	57217	TTC7A	ORPHA:436252
HP:0001595	Abnormal hair morphology	5557	PRIM1	OMIM:620005
HP:0001595	Abnormal hair morphology	9757	KMT2B	OMIM:619934
HP:0001595	Abnormal hair morphology	84081	NSRP1	OMIM:620001
HP:0001595	Abnormal hair morphology	23404	EXOSC2	OMIM:617763
HP:0001595	Abnormal hair morphology	126792	B3GALT6	OMIM:615349
HP:0001595	Abnormal hair morphology	25886	POC1A	OMIM:614813
HP:0001595	Abnormal hair morphology	5824	PEX19	OMIM:614886
HP:0001595	Abnormal hair morphology	7248	TSC1	OMIM:191100
HP:0001595	Abnormal hair morphology	80324	PUS1	OMIM:600462
HP:0001595	Abnormal hair morphology	80324	PUS1	ORPHA:2598
HP:0001595	Abnormal hair morphology	2303	FOXC2	OMIM:153400
HP:0001595	Abnormal hair morphology	2303	FOXC2	ORPHA:33001
HP:0001595	Abnormal hair morphology	1748	DLX4	OMIM:616788
HP:0001595	Abnormal hair morphology	51067	YARS2	ORPHA:2598
HP:0001595	Abnormal hair morphology	16	AARS1	OMIM:619691
HP:0001595	Abnormal hair morphology	404672	GTF2H5	OMIM:616395
HP:0001595	Abnormal hair morphology	9652	SKIC3	OMIM:222470
HP:0001595	Abnormal hair morphology	9652	SKIC3	ORPHA:84064
HP:0001595	Abnormal hair morphology	6499	SKIC2	ORPHA:84064
HP:0001595	Abnormal hair morphology	6499	SKIC2	OMIM:614602
HP:0001595	Abnormal hair morphology	126695	KDF1	OMIM:617337
HP:0001595	Abnormal hair morphology	2222	FDFT1	OMIM:618156
HP:0001595	Abnormal hair morphology	11107	PRDM5	ORPHA:90354
HP:0001595	Abnormal hair morphology	84627	ZNF469	ORPHA:90354
HP:0001595	Abnormal hair morphology	367	AR	ORPHA:90797
HP:0001595	Abnormal hair morphology	29893	PSMC3IP	ORPHA:243
HP:0001595	Abnormal hair morphology	171568	POLR3H	ORPHA:243
HP:0001595	Abnormal hair morphology	2516	NR5A1	ORPHA:243
HP:0001595	Abnormal hair morphology	125150	ZSWIM7	ORPHA:243
HP:0001595	Abnormal hair morphology	9210	BMP15	ORPHA:243
HP:0001595	Abnormal hair morphology	57122	NUP107	ORPHA:243
HP:0001595	Abnormal hair morphology	23514	SPIDR	ORPHA:243
HP:0001595	Abnormal hair morphology	2492	FSHR	ORPHA:243
HP:0001595	Abnormal hair morphology	56945	MRPS22	ORPHA:243
HP:0001595	Abnormal hair morphology	646	BNC1	ORPHA:243
HP:0001595	Abnormal hair morphology	4438	MSH4	ORPHA:243
HP:0001595	Abnormal hair morphology	5626	PROP1	ORPHA:95494
HP:0001595	Abnormal hair morphology	5626	PROP1	ORPHA:90695
HP:0001595	Abnormal hair morphology	2736	GLI2	ORPHA:95494
HP:0001595	Abnormal hair morphology	89884	LHX4	ORPHA:95494
HP:0001595	Abnormal hair morphology	3170	FOXA2	ORPHA:95494
HP:0001595	Abnormal hair morphology	5449	POU1F1	ORPHA:95494
HP:0001595	Abnormal hair morphology	8820	HESX1	ORPHA:95494
HP:0001595	Abnormal hair morphology	5015	OTX2	ORPHA:95494
HP:0001595	Abnormal hair morphology	6658	SOX3	ORPHA:90695
HP:0001595	Abnormal hair morphology	9653	HS2ST1	OMIM:619194
HP:0001595	Abnormal hair morphology	104	ADARB1	OMIM:618862
HP:0001595	Abnormal hair morphology	29926	GMPPA	OMIM:615510
HP:0001595	Abnormal hair morphology	3008	H1-4	OMIM:617537
HP:0001595	Abnormal hair morphology	3703	STT3A	OMIM:619714
HP:0001595	Abnormal hair morphology	1836	SLC26A2	ORPHA:628
HP:0001595	Abnormal hair morphology	2202	EFEMP1	OMIM:620780
HP:0001595	Abnormal hair morphology	79228	THOC6	ORPHA:363444
HP:0001595	Abnormal hair morphology	79228	THOC6	OMIM:613680
HP:0001595	Abnormal hair morphology	10525	HYOU1	OMIM:233600
HP:0001595	Abnormal hair morphology	84679	SLC9A7	OMIM:301024
HP:0001595	Abnormal hair morphology	64135	IFIH1	OMIM:182250
HP:0001595	Abnormal hair morphology	55906	ZC4H2	OMIM:314580
HP:0001595	Abnormal hair morphology	4858	NOVA2	OMIM:618859
HP:0001595	Abnormal hair morphology	2245	FGD1	ORPHA:915
HP:0001595	Abnormal hair morphology	26057	ANKRD17	OMIM:619504
HP:0001595	Abnormal hair morphology	1371	CPOX	ORPHA:79273
HP:0001595	Abnormal hair morphology	6913	TBX15	OMIM:260660
HP:0001595	Abnormal hair morphology	136647	MPLKIP	OMIM:234050
HP:0001595	Abnormal hair morphology	191	AHCY	ORPHA:88618
HP:0001595	Abnormal hair morphology	3728	JUP	ORPHA:34217
HP:0001595	Abnormal hair morphology	112802	KRT71	ORPHA:170
HP:0001595	Abnormal hair morphology	200879	LIPH	ORPHA:170
HP:0001595	Abnormal hair morphology	10161	LPAR6	ORPHA:170
HP:0001595	Abnormal hair morphology	147183	KRT25	ORPHA:170
HP:0001595	Abnormal hair morphology	1947	EFNB1	ORPHA:1520
HP:0001595	Abnormal hair morphology	284058	KANSL1	OMIM:610443
HP:0001595	Abnormal hair morphology	26227	PHGDH	ORPHA:79351
HP:0001595	Abnormal hair morphology	84181	CHD6	ORPHA:2108
HP:0001595	Abnormal hair morphology	23545	ATP6V0A2	OMIM:219200
HP:0001595	Abnormal hair morphology	10312	TCIRG1	ORPHA:667
HP:0001595	Abnormal hair morphology	1186	CLCN7	ORPHA:667
HP:0001595	Abnormal hair morphology	29887	SNX10	ORPHA:667
HP:0001595	Abnormal hair morphology	8600	TNFSF11	ORPHA:667
HP:0001595	Abnormal hair morphology	7291	TWIST1	ORPHA:794
HP:0001595	Abnormal hair morphology	2263	FGFR2	ORPHA:794
HP:0001595	Abnormal hair morphology	2261	FGFR3	ORPHA:794
HP:0001595	Abnormal hair morphology	341640	FREM2	ORPHA:2052
HP:0001595	Abnormal hair morphology	80144	FRAS1	ORPHA:2052
HP:0001595	Abnormal hair morphology	23426	GRIP1	ORPHA:2052
HP:0001595	Abnormal hair morphology	29123	ANKRD11	ORPHA:2332
HP:0001595	Abnormal hair morphology	29123	ANKRD11	ORPHA:261250
HP:0001595	Abnormal hair morphology	158326	FREM1	ORPHA:2717
HP:0001595	Abnormal hair morphology	10225	CD96	ORPHA:1308
HP:0001595	Abnormal hair morphology	3248	HPGD	ORPHA:2796
HP:0001595	Abnormal hair morphology	6578	SLCO2A1	ORPHA:2796
HP:0001595	Abnormal hair morphology	117581	TWIST2	ORPHA:920
HP:0001595	Abnormal hair morphology	117581	TWIST2	ORPHA:1807
HP:0001595	Abnormal hair morphology	197131	UBR1	ORPHA:2315
HP:0001595	Abnormal hair morphology	6595	SMARCA2	ORPHA:3051
HP:0001595	Abnormal hair morphology	10682	EBP	ORPHA:35173
HP:0001595	Abnormal hair morphology	4010	LMX1B	ORPHA:495818
HP:0001595	Abnormal hair morphology	6812	STXBP1	ORPHA:495818
HP:0001595	Abnormal hair morphology	170302	ARX	ORPHA:2508
HP:0001595	Abnormal hair morphology	8450	CUL4B	ORPHA:85293
HP:0001595	Abnormal hair morphology	54499	TMCO1	ORPHA:1394
HP:0001595	Abnormal hair morphology	8241	RBM10	ORPHA:2886
HP:0001595	Abnormal hair morphology	5518	PPP2R1A	ORPHA:457284
HP:0001595	Abnormal hair morphology	5518	PPP2R1A	OMIM:616362
HP:0001595	Abnormal hair morphology	10617	STAMBP	OMIM:614261
HP:0001595	Abnormal hair morphology	92482	BBIP1	ORPHA:110
HP:0001595	Abnormal hair morphology	11020	IFT27	ORPHA:110
HP:0001595	Abnormal hair morphology	582	BBS1	ORPHA:110
HP:0001595	Abnormal hair morphology	49855	SCAPER	ORPHA:110
HP:0001595	Abnormal hair morphology	51057	WDPCP	ORPHA:110
HP:0001595	Abnormal hair morphology	132320	SCLT1	ORPHA:110
HP:0001595	Abnormal hair morphology	27241	BBS9	ORPHA:110
HP:0001595	Abnormal hair morphology	84984	CEP19	ORPHA:110
HP:0001595	Abnormal hair morphology	22954	TRIM32	ORPHA:110
HP:0001595	Abnormal hair morphology	79738	BBS10	ORPHA:110
HP:0001595	Abnormal hair morphology	123016	TTC8	ORPHA:110
HP:0001595	Abnormal hair morphology	26160	IFT172	ORPHA:110
HP:0001595	Abnormal hair morphology	583	BBS2	ORPHA:110
HP:0001595	Abnormal hair morphology	585	BBS4	ORPHA:110
HP:0001595	Abnormal hair morphology	8195	MKKS	ORPHA:110
HP:0001595	Abnormal hair morphology	54585	LZTFL1	ORPHA:110
HP:0001595	Abnormal hair morphology	55212	BBS7	ORPHA:110
HP:0001595	Abnormal hair morphology	166379	BBS12	ORPHA:110
HP:0001595	Abnormal hair morphology	10806	SDCCAG8	ORPHA:110
HP:0001595	Abnormal hair morphology	157657	CFAP418	ORPHA:110
HP:0001595	Abnormal hair morphology	84100	ARL6	ORPHA:110
HP:0001595	Abnormal hair morphology	129880	BBS5	ORPHA:110
HP:0001595	Abnormal hair morphology	5587	PRKD1	OMIM:617364
HP:0001595	Abnormal hair morphology	25	ABL1	OMIM:617602
HP:0001595	Abnormal hair morphology	54840	APTX	ORPHA:1168
HP:0001595	Abnormal hair morphology	25942	SIN3A	OMIM:613406
HP:0001595	Abnormal hair morphology	2006	ELN	OMIM:194050
HP:0001595	Abnormal hair morphology	51085	MLXIPL	OMIM:194050
HP:0001595	Abnormal hair morphology	8313	AXIN2	OMIM:608615
HP:0001595	Abnormal hair morphology	4733	DRG1	OMIM:620641
HP:0001595	Abnormal hair morphology	4047	LSS	OMIM:618275
HP:0001595	Abnormal hair morphology	84231	TRAF7	OMIM:618164
HP:0001595	Abnormal hair morphology	5898	RALA	OMIM:619311
HP:0001595	Abnormal hair morphology	93986	FOXP2	ORPHA:209908
HP:0001595	Abnormal hair morphology	23389	MED13L	ORPHA:369891
HP:0001595	Abnormal hair morphology	6857	SYT1	ORPHA:522077
HP:0001595	Abnormal hair morphology	26173	INTS1	OMIM:618571
HP:0001595	Abnormal hair morphology	23097	CDK19	OMIM:618916
HP:0001595	Abnormal hair morphology	6868	ADAM17	ORPHA:294023
HP:0001595	Abnormal hair morphology	5422	POLA1	OMIM:301220
HP:0001595	Abnormal hair morphology	8925	HERC1	ORPHA:457359
HP:0001595	Abnormal hair morphology	1984	EIF5A	OMIM:619376
HP:0001595	Abnormal hair morphology	6651	SON	OMIM:617140
HP:0001595	Abnormal hair morphology	25871	NEPRO	OMIM:618853
HP:0001595	Abnormal hair morphology	6659	SOX4	ORPHA:1465
HP:0001595	Abnormal hair morphology	5977	DPF2	ORPHA:1465
HP:0001595	Abnormal hair morphology	6602	SMARCD1	ORPHA:1465
HP:0001595	Abnormal hair morphology	196528	ARID2	ORPHA:1465
HP:0001595	Abnormal hair morphology	100151683	RNU4ATAC	ORPHA:353298
HP:0001595	Abnormal hair morphology	100151683	RNU4ATAC	OMIM:616651
HP:0001595	Abnormal hair morphology	4001	LMNB1	OMIM:619179
HP:0001595	Abnormal hair morphology	29920	PYCR2	OMIM:616420
HP:0001595	Abnormal hair morphology	7543	ZFX	OMIM:301118
HP:0001595	Abnormal hair morphology	388015	RTL1	ORPHA:96334
HP:0001595	Abnormal hair morphology	8788	DLK1	ORPHA:96334
HP:0001595	Abnormal hair morphology	55384	MEG3	ORPHA:96334
HP:0001595	Abnormal hair morphology	54914	FOCAD	OMIM:619991
HP:0001595	Abnormal hair morphology	374969	SVBP	OMIM:618569
HP:0001595	Abnormal hair morphology	3872	KRT17	OMIM:167210
HP:0001595	Abnormal hair morphology	435	ASL	ORPHA:23
HP:0001595	Abnormal hair morphology	64072	CDH23	ORPHA:91347
HP:0001595	Abnormal hair morphology	64072	CDH23	ORPHA:2965
HP:0001595	Abnormal hair morphology	4221	MEN1	ORPHA:2965
HP:0001595	Abnormal hair morphology	9049	AIP	ORPHA:2965
HP:0001595	Abnormal hair morphology	22800	RRAS2	ORPHA:648
HP:0001595	Abnormal hair morphology	867	CBL	ORPHA:648
HP:0001595	Abnormal hair morphology	8216	LZTR1	ORPHA:648
HP:0001595	Abnormal hair morphology	6016	RIT1	ORPHA:648
HP:0001595	Abnormal hair morphology	6237	RRAS	ORPHA:648
HP:0001595	Abnormal hair morphology	5894	RAF1	ORPHA:648
HP:0001595	Abnormal hair morphology	22808	MRAS	ORPHA:648
HP:0001595	Abnormal hair morphology	200734	SPRED2	ORPHA:648
HP:0001595	Abnormal hair morphology	4893	NRAS	ORPHA:648
HP:0001595	Abnormal hair morphology	6654	SOS1	ORPHA:648
HP:0001595	Abnormal hair morphology	6655	SOS2	ORPHA:648
HP:0001595	Abnormal hair morphology	5781	PTPN11	ORPHA:648
HP:0001595	Abnormal hair morphology	5922	RASA2	ORPHA:648
HP:0001595	Abnormal hair morphology	1500	CTNND1	ORPHA:1997
HP:0001595	Abnormal hair morphology	999	CDH1	ORPHA:1997
HP:0001595	Abnormal hair morphology	2304	FOXE1	ORPHA:1226
HP:0001595	Abnormal hair morphology	57167	SALL4	ORPHA:233
HP:0001595	Abnormal hair morphology	9935	MAFB	ORPHA:233
HP:0001595	Abnormal hair morphology	1123	CHN1	ORPHA:233
HP:0001595	Abnormal hair morphology	7390	UROS	OMIM:263700
HP:0001595	Abnormal hair morphology	7390	UROS	ORPHA:79277
HP:0001595	Abnormal hair morphology	2623	GATA1	ORPHA:79277
HP:0001595	Abnormal hair morphology	7389	UROD	ORPHA:95159
HP:0001595	Abnormal hair morphology	6925	TCF4	OMIM:610954
HP:0001595	Abnormal hair morphology	6477	SIAH1	OMIM:619314
HP:0001595	Abnormal hair morphology	120766137	HRURF	OMIM:146550
HP:0001595	Abnormal hair morphology	7737	RNF113A	OMIM:300953
HP:0001595	Abnormal hair morphology	2071	ERCC3	OMIM:616390
HP:0001595	Abnormal hair morphology	2071	ERCC3	ORPHA:33364
HP:0001595	Abnormal hair morphology	6897	TARS1	OMIM:618546
HP:0001595	Abnormal hair morphology	6897	TARS1	ORPHA:33364
HP:0001595	Abnormal hair morphology	2961	GTF2E2	OMIM:616943
HP:0001595	Abnormal hair morphology	2961	GTF2E2	ORPHA:33364
HP:0001595	Abnormal hair morphology	833	CARS1	ORPHA:33364
HP:0001595	Abnormal hair morphology	4141	MARS1	OMIM:619692
HP:0001595	Abnormal hair morphology	5934	RBL2	OMIM:619690
HP:0001595	Abnormal hair morphology	8812	CCNK	OMIM:618147
HP:0001595	Abnormal hair morphology	773	CACNA1A	ORPHA:2131
HP:0001595	Abnormal hair morphology	6507	SLC1A3	ORPHA:2131
HP:0001595	Abnormal hair morphology	477	ATP1A2	ORPHA:2131
HP:0001595	Abnormal hair morphology	478	ATP1A3	ORPHA:2131
HP:0001595	Abnormal hair morphology	8318	CDC45	OMIM:617063
HP:0001595	Abnormal hair morphology	10157	AASS	ORPHA:2203
HP:0001595	Abnormal hair morphology	7528	YY1	ORPHA:506358
HP:0001595	Abnormal hair morphology	7528	YY1	OMIM:617557
HP:0001595	Abnormal hair morphology	116931	MED12L	OMIM:618872
HP:0001595	Abnormal hair morphology	3020	H3-3A	OMIM:619720
HP:0001595	Abnormal hair morphology	6234	RPS28	OMIM:606164
HP:0001595	Abnormal hair morphology	1654	DDX3X	ORPHA:3338
HP:0001595	Abnormal hair morphology	4781	NFIB	OMIM:618286
HP:0001595	Abnormal hair morphology	51574	LARP7	ORPHA:319671
HP:0001595	Abnormal hair morphology	5908	RAP1B	OMIM:620654
HP:0001595	Abnormal hair morphology	2099	ESR1	ORPHA:785
HP:0001595	Abnormal hair morphology	5396	PRRX1	ORPHA:990
HP:0001595	Abnormal hair morphology	3039	HBA1	ORPHA:98791
HP:0001595	Abnormal hair morphology	3040	HBA2	ORPHA:98791
HP:0001595	Abnormal hair morphology	134218	DNAJC21	OMIM:617052
HP:0001595	Abnormal hair morphology	5116	PCNT	ORPHA:2637
HP:0001595	Abnormal hair morphology	3981	LIG4	ORPHA:39041
HP:0001595	Abnormal hair morphology	5896	RAG1	ORPHA:39041
HP:0001595	Abnormal hair morphology	5897	RAG2	ORPHA:39041
HP:0001595	Abnormal hair morphology	64421	DCLRE1C	ORPHA:39041
HP:0001595	Abnormal hair morphology	100	ADA	ORPHA:39041
HP:0001595	Abnormal hair morphology	3575	IL7R	ORPHA:39041
HP:0001595	Abnormal hair morphology	3561	IL2RG	ORPHA:39041
HP:0001595	Abnormal hair morphology	197	AHSG	ORPHA:2850
HP:0001595	Abnormal hair morphology	3694	ITGB6	ORPHA:2850
HP:0001595	Abnormal hair morphology	10262	SF3B4	ORPHA:245
HP:0001595	Abnormal hair morphology	57539	WDR35	OMIM:614091
HP:0001595	Abnormal hair morphology	60401	EDA2R	ORPHA:181
HP:0001595	Abnormal hair morphology	1896	EDA	ORPHA:181
HP:0001595	Abnormal hair morphology	2313	FLI1	ORPHA:2308
HP:0001595	Abnormal hair morphology	151516	ASPRV1	ORPHA:313
HP:0001595	Abnormal hair morphology	126410	CYP4F22	ORPHA:313
HP:0001595	Abnormal hair morphology	6820	SULT2B1	ORPHA:313
HP:0001595	Abnormal hair morphology	26154	ABCA12	ORPHA:313
HP:0001595	Abnormal hair morphology	643418	LIPN	ORPHA:313
HP:0001595	Abnormal hair morphology	348938	NIPAL4	ORPHA:313
HP:0001595	Abnormal hair morphology	121214	SDR9C7	ORPHA:313
HP:0001595	Abnormal hair morphology	7051	TGM1	ORPHA:313
HP:0001595	Abnormal hair morphology	25839	COG4	ORPHA:263501
HP:0001595	Abnormal hair morphology	25839	COG4	OMIM:613489
HP:0001595	Abnormal hair morphology	55154	MSTO1	OMIM:617675
HP:0001595	Abnormal hair morphology	55154	MSTO1	ORPHA:502423
HP:0001595	Abnormal hair morphology	4750	NEK1	ORPHA:2751
HP:0001595	Abnormal hair morphology	137682	NDUFAF6	OMIM:618239
HP:0001595	Abnormal hair morphology	79574	EPS8L3	ORPHA:444
HP:0001595	Abnormal hair morphology	55806	HR	ORPHA:444
HP:0001595	Abnormal hair morphology	6144	RPL21	OMIM:615885
HP:0001595	Abnormal hair morphology	54101	RIPK4	ORPHA:1234
HP:0001595	Abnormal hair morphology	9401	RECQL4	ORPHA:221016
HP:0001595	Abnormal hair morphology	6635	SNRPE	OMIM:615059
HP:0001595	Abnormal hair morphology	64682	ANAPC1	ORPHA:221008
HP:0001596	Alopecia	26191	PTPN22	ORPHA:397
HP:0001596	Alopecia	26191	PTPN22	ORPHA:3437
HP:0001596	Alopecia	26191	PTPN22	ORPHA:536
HP:0001596	Alopecia	3106	HLA-B	ORPHA:397
HP:0001596	Alopecia	3123	HLA-DRB1	ORPHA:397
HP:0001596	Alopecia	3123	HLA-DRB1	ORPHA:536
HP:0001596	Alopecia	3123	HLA-DRB1	ORPHA:797
HP:0001596	Alopecia	8974	P4HA2	ORPHA:397
HP:0001596	Alopecia	7421	VDR	ORPHA:93160
HP:0001596	Alopecia	4791	NFKB2	ORPHA:293978
HP:0001596	Alopecia	3265	HRAS	ORPHA:2612
HP:0001596	Alopecia	3265	HRAS	OMIM:163200
HP:0001596	Alopecia	3845	KRAS	ORPHA:2612
HP:0001596	Alopecia	3845	KRAS	ORPHA:2396
HP:0001596	Alopecia	3845	KRAS	OMIM:163200
HP:0001596	Alopecia	4893	NRAS	ORPHA:2612
HP:0001596	Alopecia	4893	NRAS	OMIM:163200
HP:0001596	Alopecia	4000	LMNA	OMIM:176670
HP:0001596	Alopecia	4000	LMNA	OMIM:248370
HP:0001596	Alopecia	4000	LMNA	ORPHA:90153
HP:0001596	Alopecia	4000	LMNA	OMIM:151660
HP:0001596	Alopecia	4000	LMNA	ORPHA:79474
HP:0001596	Alopecia	1736	DKC1	OMIM:305000
HP:0001596	Alopecia	1736	DKC1	ORPHA:1775
HP:0001596	Alopecia	4047	LSS	ORPHA:2850
HP:0001596	Alopecia	4047	LSS	ORPHA:55654
HP:0001596	Alopecia	4047	LSS	OMIM:618840
HP:0001596	Alopecia	197	AHSG	ORPHA:2850
HP:0001596	Alopecia	197	AHSG	OMIM:203650
HP:0001596	Alopecia	3694	ITGB6	ORPHA:2850
HP:0001596	Alopecia	3891	KRT85	OMIM:602032
HP:0001596	Alopecia	51099	ABHD5	OMIM:275630
HP:0001596	Alopecia	51099	ABHD5	ORPHA:98907
HP:0001596	Alopecia	9401	RECQL4	OMIM:268400
HP:0001596	Alopecia	3909	LAMA3	ORPHA:79404
HP:0001596	Alopecia	3918	LAMC2	ORPHA:79404
HP:0001596	Alopecia	3914	LAMB3	ORPHA:79404
HP:0001596	Alopecia	6720	SREBF1	OMIM:158310
HP:0001596	Alopecia	162	AP1B1	OMIM:242150
HP:0001596	Alopecia	4790	NFKB1	OMIM:616576
HP:0001596	Alopecia	54345	SOX18	ORPHA:69735
HP:0001596	Alopecia	54345	SOX18	OMIM:607823
HP:0001596	Alopecia	54345	SOX18	OMIM:137940
HP:0001596	Alopecia	3141	HLCS	OMIM:253270
HP:0001596	Alopecia	3141	HLCS	ORPHA:79242
HP:0001596	Alopecia	10908	PNPLA6	OMIM:275400
HP:0001596	Alopecia	10908	PNPLA6	ORPHA:3363
HP:0001596	Alopecia	5818	NECTIN1	ORPHA:3253
HP:0001596	Alopecia	1584	CYP11B1	ORPHA:90795
HP:0001596	Alopecia	7298	TYMS	OMIM:620040
HP:0001596	Alopecia	7298	TYMS	ORPHA:1775
HP:0001596	Alopecia	90	ACVR1	OMIM:135100
HP:0001596	Alopecia	90	ACVR1	ORPHA:337
HP:0001596	Alopecia	7780	SLC30A2	OMIM:608118
HP:0001596	Alopecia	51360	MBTPS2	ORPHA:2273
HP:0001596	Alopecia	51360	MBTPS2	ORPHA:659
HP:0001596	Alopecia	51360	MBTPS2	OMIM:308205
HP:0001596	Alopecia	51360	MBTPS2	ORPHA:85284
HP:0001596	Alopecia	284058	KANSL1	ORPHA:363958
HP:0001596	Alopecia	284058	KANSL1	ORPHA:363965
HP:0001596	Alopecia	54453	RIN2	OMIM:613075
HP:0001596	Alopecia	26277	TINF2	OMIM:613990
HP:0001596	Alopecia	26277	TINF2	OMIM:127550
HP:0001596	Alopecia	26277	TINF2	ORPHA:1775
HP:0001596	Alopecia	50814	NSDHL	OMIM:308050
HP:0001596	Alopecia	686	BTD	OMIM:253260
HP:0001596	Alopecia	686	BTD	ORPHA:79241
HP:0001596	Alopecia	2260	FGFR1	ORPHA:2396
HP:0001596	Alopecia	2260	FGFR1	OMIM:613001
HP:0001596	Alopecia	3117	HLA-DQA1	OMIM:212750
HP:0001596	Alopecia	3119	HLA-DQB1	OMIM:212750
HP:0001596	Alopecia	64359	NXN	ORPHA:1507
HP:0001596	Alopecia	4920	ROR2	ORPHA:1507
HP:0001596	Alopecia	7840	ALMS1	OMIM:203800
HP:0001596	Alopecia	64087	MCCC2	OMIM:210210
HP:0001596	Alopecia	5191	PEX7	OMIM:215100
HP:0001596	Alopecia	1281	COL3A1	ORPHA:286
HP:0001596	Alopecia	215	ABCD1	OMIM:300100
HP:0001596	Alopecia	2313	FLI1	OMIM:617443
HP:0001596	Alopecia	5073	PARN	OMIM:616353
HP:0001596	Alopecia	5073	PARN	ORPHA:1775
HP:0001596	Alopecia	374393	FAM111B	OMIM:615704
HP:0001596	Alopecia	165	AEBP1	ORPHA:536532
HP:0001596	Alopecia	55131	RBM28	ORPHA:157954
HP:0001596	Alopecia	55131	RBM28	OMIM:612079
HP:0001596	Alopecia	5339	PLEC	OMIM:616487
HP:0001596	Alopecia	5339	PLEC	ORPHA:257
HP:0001596	Alopecia	23312	DMXL2	ORPHA:453533
HP:0001596	Alopecia	8456	FOXN1	OMIM:601705
HP:0001596	Alopecia	5566	PRKACA	OMIM:615830
HP:0001596	Alopecia	1857	DVL3	ORPHA:3107
HP:0001596	Alopecia	7474	WNT5A	ORPHA:3107
HP:0001596	Alopecia	1855	DVL1	ORPHA:3107
HP:0001596	Alopecia	2535	FZD2	ORPHA:3107
HP:0001596	Alopecia	1909	EDNRA	OMIM:616367
HP:0001596	Alopecia	11128	POLR3A	OMIM:264090
HP:0001596	Alopecia	51284	TLR7	OMIM:301080
HP:0001596	Alopecia	51284	TLR7	ORPHA:536
HP:0001596	Alopecia	8517	IKBKG	ORPHA:464
HP:0001596	Alopecia	8517	IKBKG	OMIM:308300
HP:0001596	Alopecia	5896	RAG1	OMIM:603554
HP:0001596	Alopecia	5896	RAG1	ORPHA:39041
HP:0001596	Alopecia	5897	RAG2	OMIM:603554
HP:0001596	Alopecia	5897	RAG2	ORPHA:39041
HP:0001596	Alopecia	64421	DCLRE1C	OMIM:603554
HP:0001596	Alopecia	64421	DCLRE1C	ORPHA:39041
HP:0001596	Alopecia	3575	IL7R	ORPHA:169154
HP:0001596	Alopecia	3575	IL7R	ORPHA:39041
HP:0001596	Alopecia	8314	BAP1	OMIM:619762
HP:0001596	Alopecia	4256	MGP	ORPHA:85202
HP:0001596	Alopecia	79798	ARMC5	ORPHA:189427
HP:0001596	Alopecia	23028	KDM1A	ORPHA:189427
HP:0001596	Alopecia	2778	GNAS	ORPHA:189427
HP:0001596	Alopecia	8481	OFD1	OMIM:311200
HP:0001596	Alopecia	8481	OFD1	ORPHA:2750
HP:0001596	Alopecia	2512	FTL	OMIM:615604
HP:0001596	Alopecia	7841	MOGS	ORPHA:79330
HP:0001596	Alopecia	326	AIRE	ORPHA:3453
HP:0001596	Alopecia	326	AIRE	OMIM:240300
HP:0001596	Alopecia	695	BTK	ORPHA:47
HP:0001596	Alopecia	2706	GJB2	ORPHA:494
HP:0001596	Alopecia	84168	ANTXR1	OMIM:230740
HP:0001596	Alopecia	84168	ANTXR1	ORPHA:2067
HP:0001596	Alopecia	50943	FOXP3	ORPHA:37042
HP:0001596	Alopecia	50943	FOXP3	OMIM:304790
HP:0001596	Alopecia	128178	EDARADD	ORPHA:248
HP:0001596	Alopecia	80326	WNT10A	ORPHA:248
HP:0001596	Alopecia	80326	WNT10A	ORPHA:50944
HP:0001596	Alopecia	10913	EDAR	ORPHA:248
HP:0001596	Alopecia	1476	CSTB	ORPHA:248
HP:0001596	Alopecia	617	BCS1L	ORPHA:123
HP:0001596	Alopecia	617	BCS1L	OMIM:262000
HP:0001596	Alopecia	5654	HTRA1	OMIM:600142
HP:0001596	Alopecia	80067	DCAF17	OMIM:241080
HP:0001596	Alopecia	8626	TP63	ORPHA:69085
HP:0001596	Alopecia	8626	TP63	ORPHA:978
HP:0001596	Alopecia	54101	RIPK4	OMIM:263650
HP:0001596	Alopecia	60529	ALX4	ORPHA:228390
HP:0001596	Alopecia	355	FAS	ORPHA:3437
HP:0001596	Alopecia	120766137	HRURF	OMIM:146550
HP:0001596	Alopecia	1493	CTLA4	ORPHA:2584
HP:0001596	Alopecia	1493	CTLA4	ORPHA:536
HP:0001596	Alopecia	1493	CTLA4	ORPHA:3162
HP:0001596	Alopecia	940	CD28	ORPHA:2584
HP:0001596	Alopecia	940	CD28	ORPHA:3162
HP:0001596	Alopecia	7133	TNFRSF1B	ORPHA:2584
HP:0001596	Alopecia	7133	TNFRSF1B	ORPHA:3162
HP:0001596	Alopecia	78987	CRELD1	OMIM:620771
HP:0001596	Alopecia	7873	MANF	OMIM:620651
HP:0001596	Alopecia	84181	CHD6	ORPHA:2108
HP:0001596	Alopecia	2068	ERCC2	ORPHA:910
HP:0001596	Alopecia	7507	XPA	ORPHA:910
HP:0001596	Alopecia	2071	ERCC3	ORPHA:910
HP:0001596	Alopecia	7508	XPC	ORPHA:910
HP:0001596	Alopecia	1643	DDB2	ORPHA:910
HP:0001596	Alopecia	2072	ERCC4	ORPHA:910
HP:0001596	Alopecia	2073	ERCC5	ORPHA:910
HP:0001596	Alopecia	7051	TGM1	OMIM:242300
HP:0001596	Alopecia	7051	TGM1	ORPHA:100976
HP:0001596	Alopecia	7051	TGM1	ORPHA:79394
HP:0001596	Alopecia	81607	NECTIN4	OMIM:613573
HP:0001596	Alopecia	2767	GNA11	ORPHA:428
HP:0001596	Alopecia	846	CASR	ORPHA:428
HP:0001596	Alopecia	6775	STAT4	ORPHA:93552
HP:0001596	Alopecia	6775	STAT4	ORPHA:536
HP:0001596	Alopecia	6696	SPP1	ORPHA:93552
HP:0001596	Alopecia	6696	SPP1	ORPHA:536
HP:0001596	Alopecia	6303	SAT1	ORPHA:93552
HP:0001596	Alopecia	3654	IRAK1	ORPHA:93552
HP:0001596	Alopecia	3654	IRAK1	ORPHA:536
HP:0001596	Alopecia	55630	SLC39A4	ORPHA:37
HP:0001596	Alopecia	1294	COL7A1	OMIM:226600
HP:0001596	Alopecia	8882	ZPR1	OMIM:619321
HP:0001596	Alopecia	4953	ODC1	ORPHA:544488
HP:0001596	Alopecia	162514	TRPV3	ORPHA:659
HP:0001596	Alopecia	64065	PERP	ORPHA:659
HP:0001596	Alopecia	7012	TERC	OMIM:127550
HP:0001596	Alopecia	7012	TERC	ORPHA:1775
HP:0001596	Alopecia	7015	TERT	OMIM:127550
HP:0001596	Alopecia	7015	TERT	ORPHA:1775
HP:0001596	Alopecia	114798	SLITRK1	OMIM:613229
HP:0001596	Alopecia	10269	ZMPSTE24	ORPHA:90154
HP:0001596	Alopecia	10269	ZMPSTE24	OMIM:608612
HP:0001596	Alopecia	2215	FCGR3B	ORPHA:536
HP:0001596	Alopecia	3684	ITGAM	ORPHA:536
HP:0001596	Alopecia	3586	IL10	ORPHA:536
HP:0001596	Alopecia	221895	JAZF1	ORPHA:536
HP:0001596	Alopecia	11277	TREX1	ORPHA:536
HP:0001596	Alopecia	7292	TNFSF4	ORPHA:536
HP:0001596	Alopecia	640	BLK	ORPHA:536
HP:0001596	Alopecia	720	C4A	ORPHA:536
HP:0001596	Alopecia	55024	BANK1	ORPHA:536
HP:0001596	Alopecia	3500	IGHG1	ORPHA:536
HP:0001596	Alopecia	1380	CR2	ORPHA:536
HP:0001596	Alopecia	5133	PDCD1	ORPHA:536
HP:0001596	Alopecia	2113	ETS1	ORPHA:536
HP:0001596	Alopecia	2213	FCGR2B	ORPHA:536
HP:0001596	Alopecia	10318	TNIP1	ORPHA:536
HP:0001596	Alopecia	7332	UBE2L3	ORPHA:536
HP:0001596	Alopecia	79932	KIAA0319L	ORPHA:536
HP:0001596	Alopecia	4204	MECP2	ORPHA:536
HP:0001596	Alopecia	3663	IRF5	ORPHA:536
HP:0001596	Alopecia	721	C4B	ORPHA:536
HP:0001596	Alopecia	1773	DNASE1	ORPHA:536
HP:0001596	Alopecia	54899	PXK	ORPHA:536
HP:0001596	Alopecia	7128	TNFAIP3	ORPHA:536
HP:0001596	Alopecia	164656	TMPRSS6	ORPHA:209981
HP:0001596	Alopecia	2316	FLNA	ORPHA:88630
HP:0001596	Alopecia	545	ATR	OMIM:614564
HP:0001596	Alopecia	22845	DOLK	OMIM:610768
HP:0001596	Alopecia	10804	GJB6	OMIM:129500
HP:0001596	Alopecia	10804	GJB6	ORPHA:189
HP:0001596	Alopecia	197131	UBR1	ORPHA:2315
HP:0001596	Alopecia	79574	EPS8L3	ORPHA:444
HP:0001596	Alopecia	79574	EPS8L3	OMIM:612841
HP:0001596	Alopecia	55806	HR	ORPHA:444
HP:0001596	Alopecia	23328	SASH1	OMIM:618373
HP:0001596	Alopecia	2697	GJA1	ORPHA:317
HP:0001596	Alopecia	2697	GJA1	OMIM:104100
HP:0001596	Alopecia	2707	GJB3	ORPHA:317
HP:0001596	Alopecia	2531	KDSR	ORPHA:317
HP:0001596	Alopecia	127534	GJB4	ORPHA:317
HP:0001596	Alopecia	57572	DOCK6	OMIM:614219
HP:0001596	Alopecia	57572	DOCK6	ORPHA:974
HP:0001596	Alopecia	3868	KRT16	ORPHA:2309
HP:0001596	Alopecia	3872	KRT17	ORPHA:2309
HP:0001596	Alopecia	3853	KRT6A	ORPHA:2309
HP:0001596	Alopecia	3854	KRT6B	ORPHA:2309
HP:0001596	Alopecia	56244	BTNL2	ORPHA:797
HP:0001596	Alopecia	650	BMP2	OMIM:235200
HP:0001596	Alopecia	3077	HFE	OMIM:235200
HP:0001596	Alopecia	9563	H6PD	OMIM:604931
HP:0001596	Alopecia	59344	ALOXE3	OMIM:242100
HP:0001596	Alopecia	59344	ALOXE3	ORPHA:79394
HP:0001596	Alopecia	242	ALOX12B	OMIM:242100
HP:0001596	Alopecia	242	ALOX12B	ORPHA:79394
HP:0001596	Alopecia	3892	KRT86	OMIM:158000
HP:0001596	Alopecia	3887	KRT81	OMIM:158000
HP:0001596	Alopecia	3889	KRT83	OMIM:158000
HP:0001596	Alopecia	54800	KLHL24	OMIM:617294
HP:0001596	Alopecia	10526	IPO8	OMIM:619472
HP:0001596	Alopecia	64840	PORCN	ORPHA:2092
HP:0001596	Alopecia	57514	ARHGAP31	OMIM:100300
HP:0001596	Alopecia	57514	ARHGAP31	ORPHA:974
HP:0001596	Alopecia	5580	PRKCD	OMIM:615559
HP:0001596	Alopecia	538	ATP7A	OMIM:309400
HP:0001596	Alopecia	3122	HLA-DRA	ORPHA:505
HP:0001596	Alopecia	10283	CWC27	OMIM:250410
HP:0001596	Alopecia	10283	CWC27	ORPHA:166035
HP:0001596	Alopecia	6023	RMRP	ORPHA:39041
HP:0001596	Alopecia	55636	CHD7	ORPHA:39041
HP:0001596	Alopecia	3981	LIG4	ORPHA:39041
HP:0001596	Alopecia	100	ADA	ORPHA:39041
HP:0001596	Alopecia	3561	IL2RG	ORPHA:39041
HP:0001596	Alopecia	147495	APCDD1	ORPHA:55654
HP:0001596	Alopecia	6144	RPL21	ORPHA:55654
HP:0001596	Alopecia	147409	DSG4	ORPHA:55654
HP:0001596	Alopecia	200879	LIPH	ORPHA:55654
HP:0001596	Alopecia	6635	SNRPE	ORPHA:55654
HP:0001596	Alopecia	10161	LPAR6	ORPHA:55654
HP:0001596	Alopecia	6595	SMARCA2	ORPHA:3051
HP:0001596	Alopecia	3516	RBPJ	ORPHA:974
HP:0001596	Alopecia	4851	NOTCH1	ORPHA:974
HP:0001596	Alopecia	285203	EOGT	ORPHA:974
HP:0001596	Alopecia	54567	DLL4	ORPHA:974
HP:0001596	Alopecia	9076	CLDN1	OMIM:607626
HP:0001596	Alopecia	84905	ZNF341	OMIM:618282
HP:0001596	Alopecia	5295	PIK3R1	ORPHA:3163
HP:0001596	Alopecia	7390	UROS	OMIM:263700
HP:0001596	Alopecia	10273	STUB1	ORPHA:412057
HP:0001596	Alopecia	100151683	RNU4ATAC	ORPHA:2636
HP:0001596	Alopecia	8815	BANF1	OMIM:614008
HP:0001596	Alopecia	121391	KRT74	OMIM:614929
HP:0001596	Alopecia	1832	DSP	OMIM:605676
HP:0001596	Alopecia	5699	PSMB10	OMIM:620807
HP:0001596	Alopecia	341208	HEPHL1	OMIM:261990
HP:0001596	Alopecia	80169	CTC1	ORPHA:1775
HP:0001596	Alopecia	55651	NHP2	ORPHA:1775
HP:0001596	Alopecia	79650	USB1	ORPHA:1775
HP:0001596	Alopecia	55135	WRAP53	ORPHA:1775
HP:0001596	Alopecia	51750	RTEL1	ORPHA:1775
HP:0001596	Alopecia	4869	NPM1	ORPHA:1775
HP:0001596	Alopecia	55505	NOP10	ORPHA:1775
HP:0001596	Alopecia	55315	SLC29A3	ORPHA:168569
HP:0001596	Alopecia	204219	CERS3	ORPHA:79394
HP:0001596	Alopecia	6820	SULT2B1	ORPHA:79394
HP:0001596	Alopecia	26154	ABCA12	ORPHA:79394
HP:0001596	Alopecia	285848	PNPLA1	ORPHA:79394
HP:0001596	Alopecia	348938	NIPAL4	ORPHA:79394
HP:0001596	Alopecia	121214	SDR9C7	ORPHA:79394
HP:0001596	Alopecia	7389	UROD	OMIM:176100
HP:0001596	Alopecia	4014	LORICRIN	ORPHA:79395
HP:0001596	Alopecia	3852	KRT5	ORPHA:79396
HP:0001596	Alopecia	3852	KRT5	ORPHA:79397
HP:0001596	Alopecia	3861	KRT14	ORPHA:79396
HP:0001596	Alopecia	3861	KRT14	ORPHA:79397
HP:0001596	Alopecia	435	ASL	ORPHA:23
HP:0001596	Alopecia	8242	KDM5C	OMIM:300534
HP:0001596	Alopecia	8242	KDM5C	ORPHA:85279
HP:0001596	Alopecia	10682	EBP	OMIM:302960
HP:0001596	Alopecia	10682	EBP	ORPHA:35173
HP:0001596	Alopecia	641	BLM	ORPHA:125
HP:0001596	Alopecia	284252	KCTD1	OMIM:181270
HP:0001596	Alopecia	1893	ECM1	OMIM:247100
HP:0001596	Alopecia	23404	EXOSC2	OMIM:617763
HP:0001596	Alopecia	28755	TRAC	OMIM:615387
HP:0001596	Alopecia	51702	PADI3	ORPHA:1410
HP:0001596	Alopecia	7053	TGM3	ORPHA:1410
HP:0001596	Alopecia	3559	IL2RA	OMIM:606367
HP:0001596	Alopecia	5317	PKP1	ORPHA:158668
HP:0001596	Alopecia	1041	CDSN	ORPHA:90368
HP:0001596	Alopecia	3691	ITGB4	OMIM:619816
HP:0001596	Alopecia	5297	PI4KA	ORPHA:436252
HP:0001596	Alopecia	57217	TTC7A	ORPHA:436252
HP:0001596	Alopecia	404672	GTF2H5	ORPHA:33364
HP:0001596	Alopecia	833	CARS1	ORPHA:33364
HP:0001596	Alopecia	7737	RNF113A	ORPHA:33364
HP:0001596	Alopecia	136647	MPLKIP	ORPHA:33364
HP:0001596	Alopecia	6897	TARS1	ORPHA:33364
HP:0001596	Alopecia	16	AARS1	ORPHA:33364
HP:0001596	Alopecia	2961	GTF2E2	ORPHA:33364
HP:0001596	Alopecia	80781	COL18A1	OMIM:267750
HP:0001596	Alopecia	10999	SLC27A4	OMIM:608649
HP:0001596	Alopecia	5605	MAP2K2	OMIM:615280
HP:0001596	Alopecia	7486	WRN	OMIM:277700
HP:0001596	Alopecia	1308	COL17A1	ORPHA:251393
HP:0001596	Alopecia	126695	KDF1	OMIM:617337
HP:0001596	Alopecia	387	RHOA	OMIM:618727
HP:0001596	Alopecia	2623	GATA1	ORPHA:79277
HP:0001596	Alopecia	3728	JUP	ORPHA:158687
HP:0001596	Alopecia	7386	UQCRFS1	OMIM:618775
HP:0001596	Alopecia	64682	ANAPC1	ORPHA:221008
HP:0001597	Abnormal nail morphology	3981	LIG4	ORPHA:235
HP:0001597	Abnormal nail morphology	54888	NSUN2	ORPHA:235
HP:0001597	Abnormal nail morphology	6804	STX1A	ORPHA:904
HP:0001597	Abnormal nail morphology	7461	CLIP2	ORPHA:904
HP:0001597	Abnormal nail morphology	84277	DNAJC30	ORPHA:904
HP:0001597	Abnormal nail morphology	8468	FKBP6	ORPHA:904
HP:0001597	Abnormal nail morphology	5982	RFC2	ORPHA:904
HP:0001597	Abnormal nail morphology	2969	GTF2I	ORPHA:904
HP:0001597	Abnormal nail morphology	3984	LIMK1	ORPHA:904
HP:0001597	Abnormal nail morphology	9569	GTF2IRD1	ORPHA:904
HP:0001597	Abnormal nail morphology	155382	VPS37D	ORPHA:904
HP:0001597	Abnormal nail morphology	155368	METTL27	ORPHA:904
HP:0001597	Abnormal nail morphology	114049	BUD23	ORPHA:904
HP:0001597	Abnormal nail morphology	7458	EIF4H	ORPHA:904
HP:0001597	Abnormal nail morphology	84163	GTF2IRD2	ORPHA:904
HP:0001597	Abnormal nail morphology	26608	TBL2	ORPHA:904
HP:0001597	Abnormal nail morphology	653361	NCF1	ORPHA:904
HP:0001597	Abnormal nail morphology	135886	TMEM270	ORPHA:904
HP:0001597	Abnormal nail morphology	9031	BAZ1B	ORPHA:904
HP:0001597	Abnormal nail morphology	2006	ELN	ORPHA:904
HP:0001597	Abnormal nail morphology	5189	PEX1	ORPHA:3220
HP:0001597	Abnormal nail morphology	5190	PEX6	ORPHA:3220
HP:0001597	Abnormal nail morphology	3636	INPPL1	ORPHA:3144
HP:0001597	Abnormal nail morphology	23169	SLC35D1	ORPHA:3144
HP:0001597	Abnormal nail morphology	56983	POGLUT1	ORPHA:79145
HP:0001597	Abnormal nail morphology	3852	KRT5	ORPHA:79145
HP:0001597	Abnormal nail morphology	23509	POFUT1	ORPHA:79145
HP:0001597	Abnormal nail morphology	55851	PSENEN	ORPHA:79145
HP:0001597	Abnormal nail morphology	5184	PEPD	ORPHA:742
HP:0001597	Abnormal nail morphology	526	ATP6V1B2	ORPHA:79500
HP:0001597	Abnormal nail morphology	57465	TBC1D24	ORPHA:79500
HP:0001597	Abnormal nail morphology	54790	TET2	ORPHA:75564
HP:0001597	Abnormal nail morphology	23451	SF3B1	ORPHA:75564
HP:0001597	Abnormal nail morphology	27125	AFF4	ORPHA:444077
HP:0001597	Abnormal nail morphology	9555	MACROH2A1	ORPHA:1275
HP:0001597	Abnormal nail morphology	5307	PITX1	ORPHA:1275
HP:0001597	Abnormal nail morphology	162514	TRPV3	ORPHA:659
HP:0001597	Abnormal nail morphology	64065	PERP	ORPHA:659
HP:0001597	Abnormal nail morphology	658	BMPR1B	ORPHA:93384
HP:0001597	Abnormal nail morphology	326	AIRE	ORPHA:3453
HP:0001597	Abnormal nail morphology	1294	COL7A1	ORPHA:79410
HP:0001597	Abnormal nail morphology	57539	WDR35	ORPHA:1515
HP:0001597	Abnormal nail morphology	112752	IFT43	ORPHA:1515
HP:0001597	Abnormal nail morphology	51098	IFT52	ORPHA:1515
HP:0001597	Abnormal nail morphology	55764	IFT122	ORPHA:1515
HP:0001597	Abnormal nail morphology	57728	WDR19	ORPHA:1515
HP:0001597	Abnormal nail morphology	6926	TBX3	ORPHA:3138
HP:0001597	Abnormal nail morphology	3861	KRT14	ORPHA:89838
HP:0001597	Abnormal nail morphology	284252	KCTD1	ORPHA:2036
HP:0001597	Abnormal nail morphology	3868	KRT16	ORPHA:2199
HP:0001597	Abnormal nail morphology	3857	KRT9	ORPHA:2199
HP:0001597	Abnormal nail morphology	128178	EDARADD	ORPHA:248
HP:0001597	Abnormal nail morphology	128178	EDARADD	ORPHA:1810
HP:0001597	Abnormal nail morphology	80326	WNT10A	ORPHA:248
HP:0001597	Abnormal nail morphology	10913	EDAR	ORPHA:248
HP:0001597	Abnormal nail morphology	10913	EDAR	ORPHA:1810
HP:0001597	Abnormal nail morphology	1476	CSTB	ORPHA:248
HP:0001597	Abnormal nail morphology	3248	HPGD	ORPHA:2796
HP:0001597	Abnormal nail morphology	6578	SLCO2A1	ORPHA:2796
HP:0001597	Abnormal nail morphology	64324	NSD1	ORPHA:3447
HP:0001597	Abnormal nail morphology	23512	SUZ12	ORPHA:3447
HP:0001597	Abnormal nail morphology	2146	EZH2	ORPHA:3447
HP:0001597	Abnormal nail morphology	5083	PAX9	OMIM:604625
HP:0001597	Abnormal nail morphology	3265	HRAS	ORPHA:3071
HP:0001597	Abnormal nail morphology	80169	CTC1	ORPHA:1775
HP:0001597	Abnormal nail morphology	26277	TINF2	ORPHA:1775
HP:0001597	Abnormal nail morphology	55651	NHP2	ORPHA:1775
HP:0001597	Abnormal nail morphology	79650	USB1	ORPHA:1775
HP:0001597	Abnormal nail morphology	55135	WRAP53	ORPHA:1775
HP:0001597	Abnormal nail morphology	51750	RTEL1	ORPHA:1775
HP:0001597	Abnormal nail morphology	4869	NPM1	ORPHA:1775
HP:0001597	Abnormal nail morphology	7012	TERC	ORPHA:1775
HP:0001597	Abnormal nail morphology	55505	NOP10	ORPHA:1775
HP:0001597	Abnormal nail morphology	5073	PARN	ORPHA:1775
HP:0001597	Abnormal nail morphology	7015	TERT	ORPHA:1775
HP:0001597	Abnormal nail morphology	1736	DKC1	ORPHA:1775
HP:0001597	Abnormal nail morphology	7298	TYMS	ORPHA:1775
HP:0001597	Abnormal nail morphology	8036	SHOC2	ORPHA:2701
HP:0001597	Abnormal nail morphology	5500	PPP1CB	ORPHA:2701
HP:0001597	Abnormal nail morphology	5333	PLCD1	ORPHA:2387
HP:0001597	Abnormal nail morphology	4853	NOTCH2	ORPHA:955
HP:0001597	Abnormal nail morphology	7189	TRAF6	ORPHA:1810
HP:0001597	Abnormal nail morphology	126695	KDF1	ORPHA:1810
HP:0001597	Abnormal nail morphology	94	ACVRL1	OMIM:600376
HP:0001597	Abnormal nail morphology	2022	ENG	OMIM:187300
HP:0001597	Abnormal nail morphology	5573	PRKAR1A	ORPHA:950
HP:0001597	Abnormal nail morphology	5144	PDE4D	ORPHA:950
HP:0001597	Abnormal nail morphology	147495	APCDD1	OMIM:605389
HP:0001597	Abnormal nail morphology	200879	LIPH	OMIM:604379
HP:0001597	Abnormal nail morphology	23394	ADNP	ORPHA:404448
HP:0001597	Abnormal nail morphology	3858	KRT10	OMIM:607602
HP:0001597	Abnormal nail morphology	64840	PORCN	ORPHA:2092
HP:0001597	Abnormal nail morphology	1041	CDSN	ORPHA:90368
HP:0001597	Abnormal nail morphology	1041	CDSN	OMIM:146520
HP:0001597	Abnormal nail morphology	121391	KRT74	ORPHA:90368
HP:0001597	Abnormal nail morphology	121391	KRT74	OMIM:613981
HP:0001597	Abnormal nail morphology	4010	LMX1B	ORPHA:2614
HP:0001597	Abnormal nail morphology	79574	EPS8L3	OMIM:612841
HP:0001597	Abnormal nail morphology	2767	GNA11	ORPHA:428
HP:0001597	Abnormal nail morphology	846	CASR	ORPHA:428
HP:0001597	Abnormal nail morphology	1528	CYB5A	ORPHA:621
HP:0001597	Abnormal nail morphology	1727	CYB5R3	ORPHA:621
HP:0001597	Abnormal nail morphology	79719	AAGAB	OMIM:148600
HP:0001597	Abnormal nail morphology	2517	FUCA1	ORPHA:349
HP:0001597	Abnormal nail morphology	55806	HR	ORPHA:701
HP:0001597	Abnormal nail morphology	79092	CARD14	ORPHA:2897
HP:0001597	Abnormal nail morphology	207	AKT1	ORPHA:744
HP:0001597	Abnormal nail morphology	8517	IKBKG	ORPHA:464
HP:0001597	Abnormal nail morphology	3909	LAMA3	ORPHA:79404
HP:0001597	Abnormal nail morphology	3918	LAMC2	ORPHA:79404
HP:0001597	Abnormal nail morphology	3918	LAMC2	OMIM:619786
HP:0001597	Abnormal nail morphology	3914	LAMB3	ORPHA:79404
HP:0001597	Abnormal nail morphology	55630	SLC39A4	ORPHA:37
HP:0001597	Abnormal nail morphology	197131	UBR1	OMIM:243800
HP:0001597	Abnormal nail morphology	3106	HLA-B	ORPHA:29207
HP:0001597	Abnormal nail morphology	56916	SMARCAD1	ORPHA:384
HP:0001597	Abnormal nail morphology	130340	AP1S3	ORPHA:247353
HP:0001597	Abnormal nail morphology	26525	IL36RN	ORPHA:247353
HP:0001597	Abnormal nail morphology	5167	ENPP1	OMIM:615522
HP:0001597	Abnormal nail morphology	2263	FGFR2	ORPHA:1555
HP:0001597	Abnormal nail morphology	6144	RPL21	OMIM:615885
HP:0001597	Abnormal nail morphology	176	ACAN	ORPHA:171866
HP:0001597	Abnormal nail morphology	8626	TP63	ORPHA:978
HP:0001597	Abnormal nail morphology	488	ATP2A2	ORPHA:218
HP:0001597	Abnormal nail morphology	29957	SLC25A24	ORPHA:2963
HP:0001597	Abnormal nail morphology	147409	DSG4	ORPHA:573
HP:0001597	Abnormal nail morphology	3892	KRT86	ORPHA:573
HP:0001597	Abnormal nail morphology	3889	KRT83	ORPHA:573
HP:0001597	Abnormal nail morphology	3887	KRT81	ORPHA:573
HP:0001597	Abnormal nail morphology	4000	LMNA	ORPHA:280365
HP:0001597	Abnormal nail morphology	4000	LMNA	ORPHA:2348
HP:0001597	Abnormal nail morphology	54345	SOX18	OMIM:607823
HP:0001597	Abnormal nail morphology	2706	GJB2	ORPHA:494
HP:0001597	Abnormal nail morphology	51360	MBTPS2	ORPHA:2273
HP:0001597	Abnormal nail morphology	3664	IRF6	ORPHA:1300
HP:0001597	Abnormal nail morphology	9496	TBX4	OMIM:147891
HP:0001597	Abnormal nail morphology	11277	TREX1	OMIM:610448
HP:0001597	Abnormal nail morphology	2697	GJA1	ORPHA:2710
HP:0001597	Abnormal nail morphology	2697	GJA1	ORPHA:1010
HP:0001597	Abnormal nail morphology	2697	GJA1	ORPHA:317
HP:0001597	Abnormal nail morphology	54539	NDUFB11	ORPHA:2556
HP:0001597	Abnormal nail morphology	1349	COX7B	ORPHA:2556
HP:0001597	Abnormal nail morphology	3052	HCCS	ORPHA:2556
HP:0001597	Abnormal nail morphology	224	ALDH3A2	OMIM:270200
HP:0001597	Abnormal nail morphology	3081	HGD	ORPHA:56
HP:0001597	Abnormal nail morphology	6768	ST14	OMIM:602400
HP:0001597	Abnormal nail morphology	6898	TAT	ORPHA:28378
HP:0001597	Abnormal nail morphology	1832	DSP	OMIM:612908
HP:0001597	Abnormal nail morphology	1832	DSP	ORPHA:50942
HP:0001597	Abnormal nail morphology	1001	CDH3	OMIM:601553
HP:0001597	Abnormal nail morphology	1513	CTSK	ORPHA:763
HP:0001597	Abnormal nail morphology	5566	PRKACA	ORPHA:289
HP:0001597	Abnormal nail morphology	5567	PRKACB	ORPHA:289
HP:0001597	Abnormal nail morphology	2735	GLI1	ORPHA:289
HP:0001597	Abnormal nail morphology	2121	EVC	ORPHA:289
HP:0001597	Abnormal nail morphology	51626	DYNC2LI1	ORPHA:289
HP:0001597	Abnormal nail morphology	132884	EVC2	ORPHA:289
HP:0001597	Abnormal nail morphology	1828	DSG1	ORPHA:50942
HP:0001597	Abnormal nail morphology	3848	KRT1	ORPHA:50942
HP:0001597	Abnormal nail morphology	3848	KRT1	OMIM:607654
HP:0001597	Abnormal nail morphology	10682	EBP	ORPHA:35173
HP:0001597	Abnormal nail morphology	7700	ZNF141	OMIM:615226
HP:0001597	Abnormal nail morphology	84818	IL17RC	ORPHA:1334
HP:0001597	Abnormal nail morphology	64581	CLEC7A	ORPHA:1334
HP:0001597	Abnormal nail morphology	23765	IL17RA	ORPHA:1334
HP:0001597	Abnormal nail morphology	10758	TRAF3IP2	ORPHA:1334
HP:0001597	Abnormal nail morphology	112744	IL17F	ORPHA:1334
HP:0001597	Abnormal nail morphology	242	ALOX12B	ORPHA:79394
HP:0001597	Abnormal nail morphology	242	ALOX12B	ORPHA:313
HP:0001597	Abnormal nail morphology	204219	CERS3	ORPHA:79394
HP:0001597	Abnormal nail morphology	6820	SULT2B1	ORPHA:79394
HP:0001597	Abnormal nail morphology	6820	SULT2B1	ORPHA:313
HP:0001597	Abnormal nail morphology	26154	ABCA12	ORPHA:79394
HP:0001597	Abnormal nail morphology	26154	ABCA12	ORPHA:313
HP:0001597	Abnormal nail morphology	285848	PNPLA1	ORPHA:79394
HP:0001597	Abnormal nail morphology	59344	ALOXE3	ORPHA:79394
HP:0001597	Abnormal nail morphology	59344	ALOXE3	ORPHA:313
HP:0001597	Abnormal nail morphology	348938	NIPAL4	ORPHA:79394
HP:0001597	Abnormal nail morphology	348938	NIPAL4	ORPHA:313
HP:0001597	Abnormal nail morphology	7051	TGM1	ORPHA:79394
HP:0001597	Abnormal nail morphology	7051	TGM1	ORPHA:313
HP:0001597	Abnormal nail morphology	121214	SDR9C7	ORPHA:79394
HP:0001597	Abnormal nail morphology	121214	SDR9C7	ORPHA:313
HP:0001597	Abnormal nail morphology	51776	MAP3K20	ORPHA:488232
HP:0001597	Abnormal nail morphology	1747	DLX3	ORPHA:3352
HP:0001597	Abnormal nail morphology	2707	GJB3	ORPHA:317
HP:0001597	Abnormal nail morphology	2531	KDSR	ORPHA:317
HP:0001597	Abnormal nail morphology	127534	GJB4	ORPHA:317
HP:0001597	Abnormal nail morphology	1493	CTLA4	ORPHA:2584
HP:0001597	Abnormal nail morphology	940	CD28	ORPHA:2584
HP:0001597	Abnormal nail morphology	7133	TNFRSF1B	ORPHA:2584
HP:0001597	Abnormal nail morphology	9333	TGM5	OMIM:609796
HP:0001597	Abnormal nail morphology	151516	ASPRV1	ORPHA:313
HP:0001597	Abnormal nail morphology	126410	CYP4F22	ORPHA:313
HP:0001597	Abnormal nail morphology	643418	LIPN	ORPHA:313
HP:0001597	Abnormal nail morphology	9241	NOG	ORPHA:3237
HP:0001597	Abnormal nail morphology	8200	GDF5	ORPHA:3237
HP:0001597	Abnormal nail morphology	2254	FGF9	ORPHA:3237
HP:0001597	Abnormal nail morphology	4487	MSX1	ORPHA:2228
HP:0001597	Abnormal nail morphology	1075	CTSC	ORPHA:678
HP:0001597	Abnormal nail morphology	1896	EDA	OMIM:305100
HP:0001597	Abnormal nail morphology	164656	TMPRSS6	ORPHA:209981
HP:0001597	Abnormal nail morphology	51132	RLIM	OMIM:300978
HP:0001597	Abnormal nail morphology	9488	PIGB	OMIM:618580
HP:0001597	Abnormal nail morphology	10617	STAMBP	OMIM:614261
HP:0001597	Abnormal nail morphology	23013	SPEN	OMIM:619312
HP:0001597	Abnormal nail morphology	6477	SIAH1	OMIM:619314
HP:0001597	Abnormal nail morphology	81607	NECTIN4	OMIM:613573
HP:0001597	Abnormal nail morphology	84529	CDIN1	OMIM:615631
HP:0001597	Abnormal nail morphology	5894	RAF1	OMIM:611553
HP:0001597	Abnormal nail morphology	3209	HOXA13	OMIM:140000
HP:0001597	Abnormal nail morphology	84942	WDR73	OMIM:251300
HP:0001597	Abnormal nail morphology	80144	FRAS1	OMIM:219000
HP:0001597	Abnormal nail morphology	10297	APC2	ORPHA:821
HP:0001597	Abnormal nail morphology	55593	OTUD5	OMIM:301056
HP:0001597	Abnormal nail morphology	51412	ACTL6B	OMIM:618470
HP:0001597	Abnormal nail morphology	29998	BICRA	OMIM:619325
HP:0001597	Abnormal nail morphology	473	RERE	OMIM:616975
HP:0001597	Abnormal nail morphology	55784	MCTP2	ORPHA:1596
HP:0001597	Abnormal nail morphology	4953	ODC1	ORPHA:544488
HP:0001597	Abnormal nail morphology	4953	ODC1	OMIM:619075
HP:0001597	Abnormal nail morphology	150468	CKAP2L	ORPHA:3255
HP:0001597	Abnormal nail morphology	7102	TSPAN7	OMIM:300210
HP:0001597	Abnormal nail morphology	84992	PIGY	ORPHA:247262
HP:0001597	Abnormal nail morphology	93210	PGAP3	ORPHA:247262
HP:0001597	Abnormal nail morphology	284098	PIGW	ORPHA:247262
HP:0001597	Abnormal nail morphology	27315	PGAP2	ORPHA:247262
HP:0001597	Abnormal nail morphology	9487	PIGL	ORPHA:247262
HP:0001597	Abnormal nail morphology	50814	NSDHL	OMIM:308050
HP:0001597	Abnormal nail morphology	6597	SMARCA4	ORPHA:1465
HP:0001597	Abnormal nail morphology	6598	SMARCB1	ORPHA:1465
HP:0001597	Abnormal nail morphology	6659	SOX4	ORPHA:1465
HP:0001597	Abnormal nail morphology	8289	ARID1A	ORPHA:1465
HP:0001597	Abnormal nail morphology	8289	ARID1A	OMIM:614607
HP:0001597	Abnormal nail morphology	5977	DPF2	ORPHA:1465
HP:0001597	Abnormal nail morphology	6601	SMARCC2	ORPHA:1465
HP:0001597	Abnormal nail morphology	6602	SMARCD1	ORPHA:1465
HP:0001597	Abnormal nail morphology	57492	ARID1B	ORPHA:1465
HP:0001597	Abnormal nail morphology	196528	ARID2	ORPHA:1465
HP:0001597	Abnormal nail morphology	6605	SMARCE1	ORPHA:1465
HP:0001597	Abnormal nail morphology	6664	SOX11	ORPHA:1465
HP:0001597	Abnormal nail morphology	54543	TOMM7	OMIM:620601
HP:0001597	Abnormal nail morphology	5277	PIGA	OMIM:300868
HP:0001597	Abnormal nail morphology	84065	TMEM222	OMIM:619470
HP:0001597	Abnormal nail morphology	8493	PPM1D	OMIM:617450
HP:0001597	Abnormal nail morphology	5828	PEX2	OMIM:614866
HP:0001597	Abnormal nail morphology	10283	CWC27	OMIM:250410
HP:0001597	Abnormal nail morphology	10283	CWC27	ORPHA:166035
HP:0001597	Abnormal nail morphology	9719	ADAMTSL2	OMIM:231050
HP:0001597	Abnormal nail morphology	7291	TWIST1	OMIM:617746
HP:0001597	Abnormal nail morphology	388015	RTL1	ORPHA:96334
HP:0001597	Abnormal nail morphology	8788	DLK1	ORPHA:96334
HP:0001597	Abnormal nail morphology	55384	MEG3	ORPHA:96334
HP:0001597	Abnormal nail morphology	51085	MLXIPL	OMIM:194050
HP:0001597	Abnormal nail morphology	57479	PRR12	OMIM:619539
HP:0001597	Abnormal nail morphology	79087	ALG12	ORPHA:79324
HP:0001597	Abnormal nail morphology	57647	DHX37	OMIM:618731
HP:0001597	Abnormal nail morphology	25871	NEPRO	OMIM:618853
HP:0001597	Abnormal nail morphology	9898	UBAP2L	OMIM:620494
HP:0001597	Abnormal nail morphology	10075	HUWE1	OMIM:309590
HP:0001597	Abnormal nail morphology	170302	ARX	OMIM:300004
HP:0001597	Abnormal nail morphology	3021	H3-3B	OMIM:619721
HP:0001597	Abnormal nail morphology	4998	ORC1	OMIM:224690
HP:0001597	Abnormal nail morphology	1889	ECE1	OMIM:613870
HP:0001597	Abnormal nail morphology	26040	SETBP1	OMIM:269150
HP:0001597	Abnormal nail morphology	6925	TCF4	OMIM:610954
HP:0001597	Abnormal nail morphology	55650	PIGV	OMIM:239300
HP:0001597	Abnormal nail morphology	72	ACTG2	ORPHA:2604
HP:0001597	Abnormal nail morphology	343637	RSPO4	OMIM:206800
HP:0001597	Abnormal nail morphology	5932	RBBP8	OMIM:251255
HP:0001597	Abnormal nail morphology	4882	NPR2	OMIM:602875
HP:0001597	Abnormal nail morphology	2317	FLNB	OMIM:150250
HP:0001597	Abnormal nail morphology	2317	FLNB	ORPHA:503
HP:0001597	Abnormal nail morphology	1806	DPYD	ORPHA:1675
HP:0001597	Abnormal nail morphology	6662	SOX9	OMIM:114290
HP:0001597	Abnormal nail morphology	126792	B3GALT6	OMIM:271640
HP:0001597	Abnormal nail morphology	9997	SCO2	OMIM:604377
HP:0001597	Abnormal nail morphology	9894	TELO2	ORPHA:488642
HP:0001597	Abnormal nail morphology	253738	EBF3	ORPHA:96148
HP:0001597	Abnormal nail morphology	23028	KDM1A	OMIM:616728
HP:0001597	Abnormal nail morphology	23028	KDM1A	ORPHA:477993
HP:0001597	Abnormal nail morphology	7750	ZMYM2	OMIM:619522
HP:0001597	Abnormal nail morphology	79971	WLS	OMIM:619648
HP:0001597	Abnormal nail morphology	79068	FTO	OMIM:612938
HP:0001597	Abnormal nail morphology	7547	ZIC3	OMIM:306955
HP:0001597	Abnormal nail morphology	1376	CPT2	OMIM:608836
HP:0001597	Abnormal nail morphology	25885	POLR1A	OMIM:616462
HP:0001597	Abnormal nail morphology	1984	EIF5A	OMIM:619376
HP:0001597	Abnormal nail morphology	2260	FGFR1	OMIM:166250
HP:0001597	Abnormal nail morphology	1801	DPH1	OMIM:616901
HP:0001597	Abnormal nail morphology	1801	DPH1	ORPHA:459061
HP:0001597	Abnormal nail morphology	26123	TCTN3	ORPHA:2753
HP:0001597	Abnormal nail morphology	1802	DPH2	ORPHA:459061
HP:0001597	Abnormal nail morphology	613	BCR	ORPHA:261330
HP:0001597	Abnormal nail morphology	1399	CRKL	ORPHA:261330
HP:0001597	Abnormal nail morphology	5594	MAPK1	ORPHA:261330
HP:0001597	Abnormal nail morphology	324	APC	ORPHA:3258
HP:0001597	Abnormal nail morphology	51506	UFC1	OMIM:618076
HP:0001597	Abnormal nail morphology	11012	KLK11	OMIM:620507
HP:0001597	Abnormal nail morphology	10161	LPAR6	OMIM:278150
HP:0001597	Abnormal nail morphology	6197	RPS6KA3	ORPHA:192
HP:0001597	Abnormal nail morphology	5281	PIGF	OMIM:619356
HP:0001597	Abnormal nail morphology	57061	HYMAI	ORPHA:96191
HP:0001597	Abnormal nail morphology	5325	PLAGL1	ORPHA:96191
HP:0001597	Abnormal nail morphology	9791	PTDSS1	ORPHA:2658
HP:0001597	Abnormal nail morphology	23556	PIGN	ORPHA:2059
HP:0001597	Abnormal nail morphology	23556	PIGN	ORPHA:280633
HP:0001597	Abnormal nail morphology	23219	FBXO28	OMIM:619777
HP:0001597	Abnormal nail morphology	80152	CENPT	OMIM:618702
HP:0001597	Abnormal nail morphology	84720	PIGO	OMIM:614749
HP:0001597	Abnormal nail morphology	90459	ERI1	OMIM:620662
HP:0001597	Abnormal nail morphology	9897	WASHC5	ORPHA:7
HP:0001597	Abnormal nail morphology	28952	CCDC22	ORPHA:7
HP:0001597	Abnormal nail morphology	57020	VPS35L	ORPHA:7
HP:0001597	Abnormal nail morphology	56896	DPYSL5	ORPHA:7
HP:0001597	Abnormal nail morphology	7020	TFAP2A	OMIM:113620
HP:0001597	Abnormal nail morphology	6473	SHOX	ORPHA:240
HP:0001597	Abnormal nail morphology	117581	TWIST2	OMIM:200110
HP:0001597	Abnormal nail morphology	1301	COL11A1	OMIM:228520
HP:0001597	Abnormal nail morphology	1301	COL11A1	ORPHA:2021
HP:0001597	Abnormal nail morphology	3481	IGF2	ORPHA:397590
HP:0001597	Abnormal nail morphology	1028	CDKN1C	ORPHA:397590
HP:0001597	Abnormal nail morphology	5324	PLAG1	ORPHA:397590
HP:0001597	Abnormal nail morphology	8091	HMGA2	ORPHA:397590
HP:0001597	Abnormal nail morphology	1302	COL11A2	ORPHA:2021
HP:0001597	Abnormal nail morphology	3756	KCNH1	ORPHA:3473
HP:0001597	Abnormal nail morphology	3756	KCNH1	ORPHA:420561
HP:0001597	Abnormal nail morphology	3782	KCNN3	ORPHA:3473
HP:0001597	Abnormal nail morphology	3516	RBPJ	ORPHA:974
HP:0001597	Abnormal nail morphology	4851	NOTCH1	ORPHA:974
HP:0001597	Abnormal nail morphology	57514	ARHGAP31	ORPHA:974
HP:0001597	Abnormal nail morphology	57572	DOCK6	ORPHA:974
HP:0001597	Abnormal nail morphology	285203	EOGT	ORPHA:974
HP:0001597	Abnormal nail morphology	54567	DLL4	ORPHA:974
HP:0001597	Abnormal nail morphology	58499	ZNF462	OMIM:618619
HP:0001597	Abnormal nail morphology	168667	BMPER	OMIM:608022
HP:0001597	Abnormal nail morphology	10804	GJB6	ORPHA:477
HP:0001597	Abnormal nail morphology	8323	FZD6	OMIM:161050
HP:0001597	Abnormal nail morphology	3691	ITGB4	OMIM:619816
HP:0001597	Abnormal nail morphology	6868	ADAM17	OMIM:614328
HP:0001597	Abnormal nail morphology	6868	ADAM17	ORPHA:294023
HP:0001597	Abnormal nail morphology	4014	LORICRIN	ORPHA:79395
HP:0001597	Abnormal nail morphology	57688	ZSWIM6	OMIM:603671
HP:0001597	Abnormal nail morphology	1956	EGFR	ORPHA:294023
HP:0001597	Abnormal nail morphology	64135	IFIH1	OMIM:182250
HP:0001597	Abnormal nail morphology	831	CAST	OMIM:616295
HP:0001597	Abnormal nail morphology	3107	HLA-C	OMIM:177900
HP:0001597	Abnormal nail morphology	7389	UROD	OMIM:176100
HP:0001597	Abnormal nail morphology	362	AQP5	ORPHA:2337
HP:0001597	Abnormal nail morphology	1947	EFNB1	OMIM:304110
HP:0001597	Abnormal nail morphology	818	CAMK2G	OMIM:618522
HP:0001597	Abnormal nail morphology	6603	SMARCD2	OMIM:617475
HP:0001597	Abnormal nail morphology	57152	SLURP1	OMIM:248300
HP:0001597	Abnormal nail morphology	2355	FOSL2	OMIM:620789
HP:0001597	Abnormal nail morphology	404672	GTF2H5	ORPHA:33364
HP:0001597	Abnormal nail morphology	833	CARS1	ORPHA:33364
HP:0001597	Abnormal nail morphology	2068	ERCC2	ORPHA:33364
HP:0001597	Abnormal nail morphology	2068	ERCC2	OMIM:601675
HP:0001597	Abnormal nail morphology	7737	RNF113A	ORPHA:33364
HP:0001597	Abnormal nail morphology	136647	MPLKIP	ORPHA:33364
HP:0001597	Abnormal nail morphology	6897	TARS1	ORPHA:33364
HP:0001597	Abnormal nail morphology	16	AARS1	ORPHA:33364
HP:0001597	Abnormal nail morphology	2071	ERCC3	ORPHA:33364
HP:0001597	Abnormal nail morphology	2961	GTF2E2	ORPHA:33364
HP:0001597	Abnormal nail morphology	23309	SIN3B	ORPHA:500166
HP:0001597	Abnormal nail morphology	25942	SIN3A	ORPHA:500166
HP:0001597	Abnormal nail morphology	25942	SIN3A	OMIM:613406
HP:0001597	Abnormal nail morphology	162	AP1B1	OMIM:242150
HP:0001597	Abnormal nail morphology	2512	FTL	ORPHA:254704
HP:0001597	Abnormal nail morphology	341208	HEPHL1	OMIM:261990
HP:0001597	Abnormal nail morphology	5587	PRKD1	OMIM:617364
HP:0001597	Abnormal nail morphology	23545	ATP6V0A2	OMIM:278250
HP:0001597	Abnormal nail morphology	7227	TRPS1	ORPHA:77258
HP:0001597	Abnormal nail morphology	7879	RAB7A	OMIM:600882
HP:0001597	Abnormal nail morphology	7468	NSD2	OMIM:194190
HP:0001597	Abnormal nail morphology	10815	CPLX1	OMIM:194190
HP:0001597	Abnormal nail morphology	1487	CTBP1	OMIM:194190
HP:0001597	Abnormal nail morphology	53834	FGFRL1	OMIM:194190
HP:0001597	Abnormal nail morphology	3954	LETM1	OMIM:194190
HP:0001597	Abnormal nail morphology	7543	ZFX	OMIM:301118
HP:0001597	Abnormal nail morphology	8726	EED	OMIM:617561
HP:0001597	Abnormal nail morphology	816	CAMK2B	OMIM:617799
HP:0001597	Abnormal nail morphology	64682	ANAPC1	OMIM:618625
HP:0001597	Abnormal nail morphology	26834	RNU4-2	OMIM:620851
HP:0001597	Abnormal nail morphology	641	BLM	ORPHA:125
HP:0001597	Abnormal nail morphology	1053	CEBPE	OMIM:260570
HP:0001597	Abnormal nail morphology	25959	KANK2	OMIM:616099
HP:0001597	Abnormal nail morphology	1825	DSC3	OMIM:613102
HP:0001597	Abnormal nail morphology	3549	IHH	OMIM:607778
HP:0001597	Abnormal nail morphology	3549	IHH	ORPHA:63446
HP:0001597	Abnormal nail morphology	2273	FHL1	OMIM:300280
HP:0001597	Abnormal nail morphology	50964	SOST	OMIM:269500
HP:0001597	Abnormal nail morphology	2737	GLI3	ORPHA:672
HP:0001597	Abnormal nail morphology	2737	GLI3	OMIM:146510
HP:0001597	Abnormal nail morphology	2737	GLI3	OMIM:175700
HP:0001597	Abnormal nail morphology	2737	GLI3	OMIM:174200
HP:0001597	Abnormal nail morphology	5339	PLEC	OMIM:226730
HP:0001597	Abnormal nail morphology	5339	PLEC	OMIM:226670
HP:0001597	Abnormal nail morphology	2132	EXT2	OMIM:616682
HP:0001597	Abnormal nail morphology	54101	RIPK4	ORPHA:1401
HP:0001597	Abnormal nail morphology	54101	RIPK4	OMIM:214350
HP:0001597	Abnormal nail morphology	4038	LRP4	OMIM:614305
HP:0001597	Abnormal nail morphology	19	ABCA1	OMIM:205400
HP:0001597	Abnormal nail morphology	55733	HHAT	OMIM:600092
HP:0001597	Abnormal nail morphology	6720	SREBF1	OMIM:158310
HP:0001597	Abnormal nail morphology	1855	DVL1	OMIM:616331
HP:0001597	Abnormal nail morphology	1855	DVL1	OMIM:180700
HP:0001597	Abnormal nail morphology	6812	STXBP1	ORPHA:495818
HP:0001597	Abnormal nail morphology	123041	SLC24A4	OMIM:615887
HP:0001597	Abnormal nail morphology	999	CDH1	OMIM:119580
HP:0001597	Abnormal nail morphology	3872	KRT17	OMIM:167210
HP:0001597	Abnormal nail morphology	10940	POP1	OMIM:617396
HP:0001597	Abnormal nail morphology	3643	INSR	OMIM:246200
HP:0001597	Abnormal nail morphology	6786	STIM1	OMIM:612783
HP:0001597	Abnormal nail morphology	727857	BHLHA9	OMIM:607539
HP:0001597	Abnormal nail morphology	1500	CTNND1	OMIM:617681
HP:0001597	Abnormal nail morphology	8985	PLOD3	OMIM:612394
HP:0001597	Abnormal nail morphology	4914	NTRK1	OMIM:256800
HP:0001597	Abnormal nail morphology	23314	SATB2	OMIM:612313
HP:0001597	Abnormal nail morphology	374393	FAM111B	OMIM:615704
HP:0001597	Abnormal nail morphology	9401	RECQL4	ORPHA:221016
HP:0001597	Abnormal nail morphology	2261	FGFR3	ORPHA:2363
HP:0001597	Abnormal nail morphology	2255	FGF10	ORPHA:2363
HP:0001597	Abnormal nail morphology	4920	ROR2	OMIM:268310
HP:0001597	Abnormal nail morphology	5264	PHYH	ORPHA:773
HP:0001597	Abnormal nail morphology	5191	PEX7	ORPHA:773
HP:0001597	Abnormal nail morphology	8813	DPM1	OMIM:608799
HP:0001597	Abnormal nail morphology	8813	DPM1	ORPHA:79322
HP:0001597	Abnormal nail morphology	2239	GPC4	ORPHA:373
HP:0001597	Abnormal nail morphology	2719	GPC3	ORPHA:373
HP:0001597	Abnormal nail morphology	652	BMP4	ORPHA:139471
HP:0001597	Abnormal nail morphology	5818	NECTIN1	OMIM:225060
HP:0001597	Abnormal nail morphology	84168	ANTXR1	OMIM:230740
HP:0001597	Abnormal nail morphology	7476	WNT7A	ORPHA:2879
HP:0001597	Abnormal nail morphology	7474	WNT5A	OMIM:180700
HP:0001597	Abnormal nail morphology	10195	ALG3	OMIM:601110
HP:0001597	Abnormal nail morphology	8295	TRRAP	OMIM:618454
HP:0001597	Abnormal nail morphology	6736	SRY	ORPHA:1772
HP:0001597	Abnormal nail morphology	2316	FLNA	OMIM:311300
HP:0001597	Abnormal nail morphology	11342	RNF13	ORPHA:544503
HP:0001597	Abnormal nail morphology	25886	POC1A	OMIM:614813
HP:0001597	Abnormal nail morphology	9896	FIG4	OMIM:216340
HP:0001597	Abnormal nail morphology	9896	FIG4	ORPHA:3472
HP:0001597	Abnormal nail morphology	55697	VAC14	ORPHA:3472
HP:0001597	Abnormal nail morphology	11128	POLR3A	ORPHA:3455
HP:0001597	Abnormal nail morphology	90416	CCDC32	OMIM:619123
HP:0001597	Abnormal nail morphology	55612	FERMT1	ORPHA:2908
HP:0001597	Abnormal nail morphology	22930	RAB3GAP1	ORPHA:1387
HP:0001597	Abnormal nail morphology	25782	RAB3GAP2	ORPHA:1387
HP:0001597	Abnormal nail morphology	25782	RAB3GAP2	OMIM:212720
HP:0001597	Abnormal nail morphology	7372	UMPS	ORPHA:30
HP:0001597	Abnormal nail morphology	3832	KIF11	ORPHA:2526
HP:0001597	Abnormal nail morphology	6335	SCN9A	ORPHA:970
HP:0001597	Abnormal nail morphology	65125	WNK1	ORPHA:970
HP:0001597	Abnormal nail morphology	54463	RETREG1	ORPHA:970
HP:0001597	Abnormal nail morphology	547	KIF1A	ORPHA:970
HP:0001597	Abnormal nail morphology	6774	STAT3	ORPHA:2314
HP:0001597	Abnormal nail morphology	5604	MAP2K1	ORPHA:1340
HP:0001597	Abnormal nail morphology	5605	MAP2K2	ORPHA:1340
HP:0001597	Abnormal nail morphology	3845	KRAS	ORPHA:1340
HP:0001597	Abnormal nail morphology	673	BRAF	ORPHA:1340
HP:0001597	Abnormal nail morphology	26137	ZBTB20	OMIM:259050
HP:0001597	Abnormal nail morphology	860	RUNX2	ORPHA:1452
HP:0001597	Abnormal nail morphology	54800	KLHL24	OMIM:617294
HP:0001597	Abnormal nail morphology	1857	DVL3	ORPHA:3107
HP:0001597	Abnormal nail morphology	2535	FZD2	ORPHA:3107
HP:0001597	Abnormal nail morphology	4791	NFKB2	ORPHA:293978
HP:0001597	Abnormal nail morphology	1763	DNA2	OMIM:620819
HP:0001597	Abnormal nail morphology	4047	LSS	ORPHA:1366
HP:0001597	Abnormal nail morphology	3891	KRT85	OMIM:602032
HP:0001597	Abnormal nail morphology	3655	ITGA6	ORPHA:79403
HP:0001597	Abnormal nail morphology	1308	COL17A1	ORPHA:79406
HP:0001597	Abnormal nail morphology	1308	COL17A1	ORPHA:79402
HP:0001597	Abnormal nail morphology	1308	COL17A1	OMIM:619787
HP:0001597	Abnormal nail morphology	1308	COL17A1	ORPHA:251393
HP:0001597	Abnormal nail morphology	4312	MMP1	ORPHA:79408
HP:0001597	Abnormal nail morphology	3728	JUP	OMIM:601214
HP:0001597	Abnormal nail morphology	4598	MVK	OMIM:175900
HP:0001597	Abnormal nail morphology	10084	PQBP1	ORPHA:93947
HP:0001597	Abnormal nail morphology	7486	WRN	OMIM:277700
HP:0001597	Abnormal nail morphology	10269	ZMPSTE24	ORPHA:90154
HP:0001597	Abnormal nail morphology	977	CD151	OMIM:609057
HP:0001597	Abnormal nail morphology	56992	KIF15	ORPHA:261323
HP:0001597	Abnormal nail morphology	4141	MARS1	OMIM:619692
HP:0001597	Abnormal nail morphology	10616	RBCK1	OMIM:615895
HP:0001597	Abnormal nail morphology	545	ATR	OMIM:614564
HP:0001597	Abnormal nail morphology	340061	STING1	OMIM:615934
HP:0001597	Abnormal nail morphology	284654	RSPO1	OMIM:610644
HP:0001597	Abnormal nail morphology	8456	FOXN1	OMIM:618806
HP:0001597	Abnormal nail morphology	8456	FOXN1	OMIM:601705
HP:0001597	Abnormal nail morphology	1475	CSTA	OMIM:607936
HP:0001597	Abnormal nail morphology	51371	POMP	OMIM:601952
HP:0001597	Abnormal nail morphology	7319	UBE2A	OMIM:300860
HP:0001597	Abnormal nail morphology	7319	UBE2A	ORPHA:163956
HP:0001597	Abnormal nail morphology	23328	SASH1	OMIM:618373
HP:0001597	Abnormal nail morphology	667	DST	OMIM:615425
HP:0001597	Abnormal nail morphology	4792	NFKBIA	ORPHA:98813
HP:0001597	Abnormal nail morphology	3853	KRT6A	ORPHA:2309
HP:0001597	Abnormal nail morphology	3853	KRT6A	OMIM:615726
HP:0001597	Abnormal nail morphology	3854	KRT6B	ORPHA:2309
HP:0001597	Abnormal nail morphology	3854	KRT6B	OMIM:615728
HP:0001597	Abnormal nail morphology	5317	PKP1	OMIM:604536
HP:0001597	Abnormal nail morphology	5317	PKP1	ORPHA:158668
HP:0001597	Abnormal nail morphology	134218	DNAJC21	OMIM:617052
HP:0001597	Abnormal nail morphology	54914	FOCAD	OMIM:619991
HP:0001597	Abnormal nail morphology	2550	GABBR1	OMIM:620502
HP:0001597	Abnormal nail morphology	3675	ITGA3	OMIM:614748
HP:0001597	Abnormal nail morphology	8085	KMT2D	OMIM:620186
HP:0001597	Abnormal nail morphology	7373	COL14A1	ORPHA:79501
HP:0001597	Abnormal nail morphology	2934	GSN	ORPHA:85448
HP:0001597	Abnormal nail morphology	10651	MTX2	OMIM:619127
HP:0001597	Abnormal nail morphology	6117	RPA1	OMIM:619767
HP:0001597	Abnormal nail morphology	51062	ATL1	OMIM:613708
HP:0001597	Abnormal nail morphology	4094	MAF	OMIM:601088
HP:0001597	Abnormal nail morphology	10848	PPP1R13L	OMIM:620519
HP:0001597	Abnormal nail morphology	7157	TP53	OMIM:618165
HP:0001597	Abnormal nail morphology	79977	GRHL2	OMIM:616029
HP:0001597	Abnormal nail morphology	50943	FOXP3	ORPHA:37042
HP:0001597	Abnormal nail morphology	8815	BANF1	OMIM:614008
HP:0001597	Abnormal nail morphology	5297	PI4KA	ORPHA:436252
HP:0001597	Abnormal nail morphology	57217	TTC7A	ORPHA:436252
HP:0001597	Abnormal nail morphology	65057	ACD	ORPHA:3322
HP:0001597	Abnormal nail morphology	65057	ACD	OMIM:616553
HP:0001597	Abnormal nail morphology	92345	NAF1	OMIM:620365
HP:0001597	Abnormal nail morphology	22861	NLRP1	OMIM:615225
HP:0001597	Abnormal nail morphology	3229	HOXC13	OMIM:614931
HP:0001597	Abnormal nail morphology	64858	DCLRE1B	OMIM:620133
HP:0001597	Abnormal nail morphology	5965	RECQL	OMIM:620370
HP:0001597	Abnormal nail morphology	3458	IFNG	OMIM:613254
HP:0001597	Abnormal nail morphology	7249	TSC2	OMIM:613254
HP:0001597	Abnormal nail morphology	7248	TSC1	OMIM:191100
HP:0001597	Abnormal nail morphology	6595	SMARCA2	OMIM:619293
HP:0001597	Abnormal nail morphology	2303	FOXC2	OMIM:153400
HP:0001597	Abnormal nail morphology	6418	SET	OMIM:618106
HP:0001597	Abnormal nail morphology	5528	PPP2R5D	ORPHA:457279
HP:0001597	Abnormal nail morphology	6792	CDKL5	ORPHA:1934
HP:0001597	Abnormal nail morphology	3736	KCNA1	ORPHA:1934
HP:0001597	Abnormal nail morphology	9091	PIGQ	ORPHA:1934
HP:0001597	Abnormal nail morphology	140679	SLC32A1	ORPHA:1934
HP:0001597	Abnormal nail morphology	2775	GNAO1	ORPHA:1934
HP:0001597	Abnormal nail morphology	81603	TRIM8	ORPHA:1934
HP:0001597	Abnormal nail morphology	2902	GRIN1	ORPHA:1934
HP:0001597	Abnormal nail morphology	79751	SLC25A22	ORPHA:1934
HP:0001597	Abnormal nail morphology	150094	SIK1	ORPHA:1934
HP:0001597	Abnormal nail morphology	8573	CASK	ORPHA:1934
HP:0001597	Abnormal nail morphology	23312	DMXL2	ORPHA:1934
HP:0001597	Abnormal nail morphology	2917	GRM7	ORPHA:1934
HP:0001597	Abnormal nail morphology	11284	PNKP	ORPHA:1934
HP:0001597	Abnormal nail morphology	6326	SCN2A	ORPHA:1934
HP:0001597	Abnormal nail morphology	51227	PIGP	ORPHA:1934
HP:0001597	Abnormal nail morphology	6324	SCN1B	ORPHA:1934
HP:0001597	Abnormal nail morphology	4761	NEUROD2	ORPHA:1934
HP:0001597	Abnormal nail morphology	267010	RNU12	ORPHA:85199
HP:0001597	Abnormal nail morphology	284	ANGPT1	OMIM:619361
HP:0001597	Abnormal nail morphology	26509	MYOF	OMIM:619366
HP:0001597	Abnormal nail morphology	100151683	RNU4ATAC	ORPHA:1824
HP:0001597	Abnormal nail morphology	6794	STK11	ORPHA:2869
HP:0001597	Abnormal nail morphology	6872	TAF1	OMIM:300966
HP:0001597	Abnormal nail morphology	650	BMP2	OMIM:617877
HP:0001597	Abnormal nail morphology	85358	SHANK3	OMIM:606232
HP:0001597	Abnormal nail morphology	2324	FLT4	ORPHA:79452
HP:0001597	Abnormal nail morphology	9780	PIEZO1	ORPHA:79452
HP:0001597	Abnormal nail morphology	285	ANGPT2	ORPHA:79452
HP:0001597	Abnormal nail morphology	57165	GJC2	ORPHA:79452
HP:0001597	Abnormal nail morphology	7424	VEGFC	OMIM:615907
HP:0001597	Abnormal nail morphology	3590	IL11RA	OMIM:614188
HP:0001597	Abnormal nail morphology	64359	NXN	ORPHA:1507
HP:0001597	Abnormal nail morphology	51816	ADA2	ORPHA:820
HP:0001598	Concave nail	3265	HRAS	ORPHA:3071
HP:0001598	Concave nail	3265	HRAS	OMIM:218040
HP:0001598	Concave nail	4010	LMX1B	OMIM:161200
HP:0001598	Concave nail	136647	MPLKIP	OMIM:234050
HP:0001598	Concave nail	136647	MPLKIP	ORPHA:33364
HP:0001598	Concave nail	4487	MSX1	OMIM:189500
HP:0001598	Concave nail	1896	EDA	OMIM:305100
HP:0001598	Concave nail	164656	TMPRSS6	ORPHA:209981
HP:0001598	Concave nail	51132	RLIM	OMIM:300978
HP:0001598	Concave nail	3848	KRT1	ORPHA:530838
HP:0001598	Concave nail	5333	PLCD1	OMIM:151600
HP:0001598	Concave nail	7227	TRPS1	OMIM:190350
HP:0001598	Concave nail	3229	HOXC13	OMIM:614931
HP:0001598	Concave nail	404672	GTF2H5	ORPHA:33364
HP:0001598	Concave nail	833	CARS1	ORPHA:33364
HP:0001598	Concave nail	2068	ERCC2	ORPHA:33364
HP:0001598	Concave nail	7737	RNF113A	ORPHA:33364
HP:0001598	Concave nail	6897	TARS1	ORPHA:33364
HP:0001598	Concave nail	16	AARS1	ORPHA:33364
HP:0001598	Concave nail	2071	ERCC3	ORPHA:33364
HP:0001598	Concave nail	2961	GTF2E2	ORPHA:33364
HP:6000201	Reduced hepatic glucose-6-phosphate translocase activity	2542	SLC37A4	OMIM:232220
HP:6000203	Elevated CSF cholestanol concentration	1593	CYP27A1	OMIM:213700
HP:6000209	Elevated CSF N-carbamyl-beta-aminoisobutyric acid concentration	51733	UPB1	OMIM:613161
HP:6000210	Elevated CSF N-carbamyl-beta-alanine concentration	51733	UPB1	OMIM:613161
HP:6000211	Elevated CSF dihydrouracil concentration	1807	DPYS	OMIM:222748
HP:6000215	Reduced circulating 3-hydroxyisobutyryl-CoA hydrolase activity	26275	HIBCH	OMIM:250620
HP:6000216	Reduced HMG-CoA lyase activity in cultured fibroblasts	3155	HMGCL	OMIM:246450
HP:6000217	Reduced circulating acyl-CoA oxidase activity	51	ACOX1	OMIM:264470
HP:6000218	Reduced circulating xanthine oxidase activity	7498	XDH	OMIM:278300
HP:6000219	Reduced methylmalonate semialdehyde dehydrogenase activity in cultured fibroblasts	4329	ALDH6A1	OMIM:614105
HP:6000224	Delayed passage of meconium	215	ABCD1	ORPHA:388
HP:6000224	Delayed passage of meconium	5979	RET	ORPHA:388
HP:6000224	Delayed passage of meconium	2668	GDNF	ORPHA:388
HP:6000224	Delayed passage of meconium	6608	SMO	ORPHA:388
HP:6000224	Delayed passage of meconium	1889	ECE1	ORPHA:388
HP:6000224	Delayed passage of meconium	6720	SREBF1	ORPHA:388
HP:6000224	Delayed passage of meconium	1908	EDN3	ORPHA:388
HP:6000224	Delayed passage of meconium	223117	SEMA3D	ORPHA:388
HP:6000224	Delayed passage of meconium	538	ATP7A	ORPHA:388
HP:6000224	Delayed passage of meconium	1910	EDNRB	ORPHA:388
HP:6000224	Delayed passage of meconium	10512	SEMA3C	ORPHA:388
HP:6000224	Delayed passage of meconium	2064	ERBB2	ORPHA:388
HP:6000224	Delayed passage of meconium	2065	ERBB3	ORPHA:388
HP:6000224	Delayed passage of meconium	4902	NRTN	ORPHA:388
HP:6000231	Abnormal tissue enzyme concentration or activity	1376	CPT2	ORPHA:228302
HP:6000231	Abnormal tissue enzyme concentration or activity	1376	CPT2	ORPHA:228305
HP:6000231	Abnormal tissue enzyme concentration or activity	1376	CPT2	ORPHA:228308
HP:6000231	Abnormal tissue enzyme concentration or activity	7915	ALDH5A1	OMIM:271980
HP:6000231	Abnormal tissue enzyme concentration or activity	2581	GALC	ORPHA:206443
HP:6000231	Abnormal tissue enzyme concentration or activity	2581	GALC	ORPHA:206448
HP:6000231	Abnormal tissue enzyme concentration or activity	2581	GALC	ORPHA:206436
HP:6000231	Abnormal tissue enzyme concentration or activity	2581	GALC	OMIM:245200
HP:6000231	Abnormal tissue enzyme concentration or activity	5660	PSAP	ORPHA:206436
HP:6000231	Abnormal tissue enzyme concentration or activity	270	AMPD1	OMIM:615511
HP:6000231	Abnormal tissue enzyme concentration or activity	2027	ENO3	OMIM:612932
HP:6000231	Abnormal tissue enzyme concentration or activity	132158	GLYCTK	OMIM:220120
HP:6000231	Abnormal tissue enzyme concentration or activity	229	ALDOB	OMIM:229600
HP:6000231	Abnormal tissue enzyme concentration or activity	2990	GUSB	OMIM:253220
HP:6000231	Abnormal tissue enzyme concentration or activity	133686	NADK2	OMIM:616034
HP:6000231	Abnormal tissue enzyme concentration or activity	2203	FBP1	OMIM:229700
HP:6000231	Abnormal tissue enzyme concentration or activity	189	AGXT	OMIM:259900
HP:6000231	Abnormal tissue enzyme concentration or activity	5191	PEX7	OMIM:266500
HP:6000231	Abnormal tissue enzyme concentration or activity	5264	PHYH	OMIM:266500
HP:6000231	Abnormal tissue enzyme concentration or activity	2799	GNS	OMIM:252940
HP:6000231	Abnormal tissue enzyme concentration or activity	3141	HLCS	OMIM:253270
HP:6000231	Abnormal tissue enzyme concentration or activity	4668	NAGA	OMIM:609241
HP:6000231	Abnormal tissue enzyme concentration or activity	38	ACAT1	OMIM:203750
HP:6000231	Abnormal tissue enzyme concentration or activity	4126	MANBA	OMIM:248510
HP:6000231	Abnormal tissue enzyme concentration or activity	56922	MCCC1	OMIM:210200
HP:6000231	Abnormal tissue enzyme concentration or activity	593	BCKDHA	OMIM:248600
HP:6000231	Abnormal tissue enzyme concentration or activity	3712	IVD	OMIM:243500
HP:6000231	Abnormal tissue enzyme concentration or activity	2710	GK	OMIM:307030
HP:6000231	Abnormal tissue enzyme concentration or activity	51733	UPB1	OMIM:613161
HP:6000231	Abnormal tissue enzyme concentration or activity	1807	DPYS	OMIM:222748
HP:6000231	Abnormal tissue enzyme concentration or activity	2548	GAA	OMIM:232300
HP:6000231	Abnormal tissue enzyme concentration or activity	23600	AMACR	OMIM:614307
HP:6000231	Abnormal tissue enzyme concentration or activity	162417	NAGS	OMIM:237310
HP:6000231	Abnormal tissue enzyme concentration or activity	5255	PHKA1	ORPHA:715
HP:6000231	Abnormal tissue enzyme concentration or activity	5255	PHKA1	OMIM:300559
HP:6000231	Abnormal tissue enzyme concentration or activity	5260	PHKG1	ORPHA:715
HP:6000231	Abnormal tissue enzyme concentration or activity	6309	SC5D	OMIM:607330
HP:6000231	Abnormal tissue enzyme concentration or activity	2542	SLC37A4	OMIM:232220
HP:6000231	Abnormal tissue enzyme concentration or activity	3155	HMGCL	OMIM:246450
HP:6000231	Abnormal tissue enzyme concentration or activity	4329	ALDH6A1	OMIM:614105
HP:6000231	Abnormal tissue enzyme concentration or activity	5261	PHKG2	OMIM:613027
HP:6000231	Abnormal tissue enzyme concentration or activity	5256	PHKA2	OMIM:306000
HP:6000231	Abnormal tissue enzyme concentration or activity	5257	PHKB	OMIM:261750
HP:6000231	Abnormal tissue enzyme concentration or activity	5009	OTC	OMIM:311250
HP:6000231	Abnormal tissue enzyme concentration or activity	445	ASS1	OMIM:215700
HP:6000231	Abnormal tissue enzyme concentration or activity	443	ASPA	OMIM:271900
HP:6000231	Abnormal tissue enzyme concentration or activity	23417	MLYCD	OMIM:248360
HP:6000231	Abnormal tissue enzyme concentration or activity	34	ACADM	OMIM:201450
HP:6000231	Abnormal tissue enzyme concentration or activity	875	CBS	OMIM:236200
HP:6000231	Abnormal tissue enzyme concentration or activity	5837	PYGM	OMIM:232600
HP:6000231	Abnormal tissue enzyme concentration or activity	5213	PFKM	OMIM:232800
HP:6000231	Abnormal tissue enzyme concentration or activity	4669	NAGLU	OMIM:252920
HP:6000231	Abnormal tissue enzyme concentration or activity	5019	OXCT1	OMIM:245050
HP:6000231	Abnormal tissue enzyme concentration or activity	8443	GNPAT	OMIM:222765
HP:6000231	Abnormal tissue enzyme concentration or activity	8540	AGPS	OMIM:600121
HP:6000231	Abnormal tissue enzyme concentration or activity	31	ACACA	OMIM:613933
HP:6000231	Abnormal tissue enzyme concentration or activity	6697	SPR	OMIM:612716
HP:6000231	Abnormal tissue enzyme concentration or activity	1890	TYMP	OMIM:603041
HP:6000231	Abnormal tissue enzyme concentration or activity	5428	POLG	OMIM:603041
HP:6000231	Abnormal tissue enzyme concentration or activity	1200	TPP1	OMIM:204500
HP:6000231	Abnormal tissue enzyme concentration or activity	2628	GATM	OMIM:612718
HP:6000231	Abnormal tissue enzyme concentration or activity	175	AGA	OMIM:208400
HP:6000231	Abnormal tissue enzyme concentration or activity	788	SLC25A20	OMIM:212138
HP:6000231	Abnormal tissue enzyme concentration or activity	7841	MOGS	OMIM:606056
HP:6000231	Abnormal tissue enzyme concentration or activity	549	AUH	OMIM:250950
HP:6000231	Abnormal tissue enzyme concentration or activity	2678	GGT1	OMIM:231950
HP:6000231	Abnormal tissue enzyme concentration or activity	4952	OCRL	OMIM:309000
HP:6000231	Abnormal tissue enzyme concentration or activity	178	AGL	OMIM:232400
HP:6000231	Abnormal tissue enzyme concentration or activity	54658	UGT1A1	OMIM:606785
HP:6000231	Abnormal tissue enzyme concentration or activity	5105	PCK1	OMIM:261680
HP:6000231	Abnormal tissue enzyme concentration or activity	9380	GRHPR	OMIM:260000
HP:6000231	Abnormal tissue enzyme concentration or activity	8659	ALDH4A1	OMIM:239510
HP:6000231	Abnormal tissue enzyme concentration or activity	2235	FECH	OMIM:177000
HP:6000231	Abnormal tissue enzyme concentration or activity	224	ALDH3A2	OMIM:270200
HP:6000231	Abnormal tissue enzyme concentration or activity	2593	GAMT	OMIM:612736
HP:6000231	Abnormal tissue enzyme concentration or activity	191	AHCY	OMIM:613752
HP:6000231	Abnormal tissue enzyme concentration or activity	5373	PMM2	OMIM:212065
HP:6000231	Abnormal tissue enzyme concentration or activity	4351	MPI	OMIM:602579
HP:6000231	Abnormal tissue enzyme concentration or activity	5538	PPT1	OMIM:256730
HP:6000231	Abnormal tissue enzyme concentration or activity	80270	HSD3B7	OMIM:607765
HP:6000231	Abnormal tissue enzyme concentration or activity	5351	PLOD1	OMIM:225400
HP:6000231	Abnormal tissue enzyme concentration or activity	2184	FAH	OMIM:276700
HP:6000231	Abnormal tissue enzyme concentration or activity	5184	PEPD	OMIM:170100
HP:6000231	Abnormal tissue enzyme concentration or activity	388962	BOLA3	OMIM:614299
HP:6000231	Abnormal tissue enzyme concentration or activity	51218	GLRX5	OMIM:616859
HP:6000231	Abnormal tissue enzyme concentration or activity	11019	LIAS	OMIM:614462
HP:6000231	Abnormal tissue enzyme concentration or activity	387787	LIPT2	OMIM:617668
HP:6000231	Abnormal tissue enzyme concentration or activity	200205	IBA57	OMIM:615330
HP:6000231	Abnormal tissue enzyme concentration or activity	37	ACADVL	OMIM:201475
HP:6000231	Abnormal tissue enzyme concentration or activity	3425	IDUA	OMIM:607014
HP:6000231	Abnormal tissue enzyme concentration or activity	4758	NEU1	OMIM:256550
HP:6000231	Abnormal tissue enzyme concentration or activity	5860	QDPR	OMIM:261630
HP:6000231	Abnormal tissue enzyme concentration or activity	9469	CHST3	OMIM:143095
HP:6000231	Abnormal tissue enzyme concentration or activity	5836	PYGL	OMIM:232700
HP:6000231	Abnormal tissue enzyme concentration or activity	3030	HADHA	OMIM:609015
HP:6000234	Elevated circulating dihydroxyphenylacetic acid concentration	1621	DBH	OMIM:223360
HP:6000239	Elevated circulating tumor necrosis factor alpha concentration	5698	PSMB9	OMIM:620796
HP:6000240	Reduced circulating pyrimidine 5-prime-nucleotidase activity	51251	NT5C3A	OMIM:266120
HP:6000243	Reduced circulating cortisol-binding globulin concentration	866	SERPINA6	OMIM:611489
HP:6000244	Decreased circulating thyroglobulin concentration	2304	FOXE1	OMIM:241850
HP:6000246	Elevated CSF D-2-hydroxyglutaric acid concentration	728294	D2HGDH	OMIM:600721
HP:6000246	Elevated CSF D-2-hydroxyglutaric acid concentration	6576	SLC25A1	OMIM:615182
HP:6000257	Spinal cord granuloma	6850	SYK	OMIM:619381
HP:6000258	Impaired folate absorption	113235	SLC46A1	OMIM:229050
HP:6000261	Absent circulating immunoglobulin kappa chain	3514	IGKC	OMIM:614102
HP:6000263	Papillary dermal edema	25939	SAMHD1	OMIM:614415
HP:6000265	Elevated urinary 3-hydroxykynurenine level	8942	KYNU	OMIM:236800
HP:6000268	Elevated circulating pipecolic acid concentration	501	ALDH7A1	OMIM:266100
HP:6000270	Elevated CSF saccharopine concentration	10157	AASS	OMIM:238700
HP:6000281	Elevated urinary gamma-glutamylphenylalanine level	5053	PAH	OMIM:261600
HP:6000295	Persistent falcine venous sinus	57688	ZSWIM6	OMIM:603671
HP:0030900	Pruritus on foot	5205	ATP8B1	ORPHA:69665
HP:0030900	Pruritus on foot	8647	ABCB11	ORPHA:69665
HP:0030900	Pruritus on foot	5244	ABCB4	ORPHA:69665
HP:0030900	Pruritus on foot	9971	NR1H4	ORPHA:69665
HP:0030902	Palmomental reflex	4311	MME	OMIM:617018
HP:0030902	Palmomental reflex	23400	ATP13A2	OMIM:606693
HP:0030903	Grasp reflex	10381	TUBB3	ORPHA:300570
HP:0030903	Grasp reflex	5277	PIGA	OMIM:300868
HP:0030903	Grasp reflex	16	AARS1	OMIM:619661
HP:0030904	Glabellar reflex	9829	DNAJC6	OMIM:615528
HP:0030904	Glabellar reflex	2760	GM2A	ORPHA:309246
HP:0030904	Glabellar reflex	2743	GLRB	OMIM:614619
HP:0030906	Suck reflex	55768	NGLY1	OMIM:615273
HP:0030906	Suck reflex	55768	NGLY1	ORPHA:404454
HP:0030908	Liver kidney microsome type 1 antibody positivity	9103	FCGR2C	ORPHA:3002
HP:0030909	Anti-liver cytosolic antigen type 1 antibody positivity	50943	FOXP3	ORPHA:37042
HP:0025608	Cicatricial ectropion	19	ABCA1	OMIM:205400
HP:0025607	Upper eyelid entropion	5518	PPP2R1A	ORPHA:457284
HP:0025605	Lid lag on downgaze	1180	CLCN1	OMIM:160800
HP:0025605	Lid lag on downgaze	1180	CLCN1	OMIM:255700
HP:0025610	Posterior blepharitis	51360	MBTPS2	OMIM:300918
HP:0025610	Posterior blepharitis	10804	GJB6	ORPHA:477
HP:0025610	Posterior blepharitis	2706	GJB2	ORPHA:477
HP:0025610	Posterior blepharitis	6720	SREBF1	OMIM:619016
HP:0025610	Posterior blepharitis	7390	UROS	ORPHA:79277
HP:0025610	Posterior blepharitis	2623	GATA1	ORPHA:79277
HP:0025610	Posterior blepharitis	7389	UROD	ORPHA:95159
HP:0025612	Corneal astigmatism	3081	HGD	ORPHA:56
HP:0025612	Corneal astigmatism	5308	PITX2	OMIM:180550
HP:0025613	Focal emotional seizure	6608	SMO	OMIM:241800
HP:0025613	Focal emotional seizure	2737	GLI3	ORPHA:672
HP:0025613	Focal emotional seizure	55690	PACS1	ORPHA:329224
HP:0025613	Focal emotional seizure	26227	PHGDH	ORPHA:79351
HP:0025613	Focal emotional seizure	6326	SCN2A	ORPHA:293181
HP:0025613	Focal emotional seizure	57468	SLC12A5	ORPHA:293181
HP:0025613	Focal emotional seizure	23236	PLCB1	ORPHA:293181
HP:0025613	Focal emotional seizure	3785	KCNQ2	ORPHA:293181
HP:0025613	Focal emotional seizure	57582	KCNT1	ORPHA:293181
HP:0025613	Focal emotional seizure	5277	PIGA	ORPHA:293181
HP:0025613	Focal emotional seizure	6323	SCN1A	ORPHA:293181
HP:0025613	Focal emotional seizure	79751	SLC25A22	ORPHA:293181
HP:0025613	Focal emotional seizure	57465	TBC1D24	ORPHA:293181
HP:0025613	Focal emotional seizure	1974	EIF4A2	OMIM:620455
HP:0025613	Focal emotional seizure	55768	NGLY1	ORPHA:404454
HP:0025613	Focal emotional seizure	10588	MTHFS	OMIM:618367
HP:0025613	Focal emotional seizure	2902	GRIN1	ORPHA:208447
HP:0025613	Focal emotional seizure	10991	SLC38A3	OMIM:619881
HP:0025613	Focal emotional seizure	26047	CNTNAP2	OMIM:610042
HP:0025615	Abscess	4688	NCF2	OMIM:233710
HP:0025615	Abscess	81839	VANGL1	OMIM:600145
HP:0025615	Abscess	3507	IGHM	OMIM:601495
HP:0025615	Abscess	3689	ITGB2	OMIM:116920
HP:0025615	Abscess	1536	CYBB	OMIM:306400
HP:0025615	Abscess	5297	PI4KA	ORPHA:436252
HP:0025615	Abscess	57217	TTC7A	ORPHA:436252
HP:0025615	Abscess	653361	NCF1	OMIM:233700
HP:0025615	Abscess	1535	CYBA	OMIM:233690
HP:0025615	Abscess	5880	RAC2	OMIM:608203
HP:0025615	Abscess	2000	ELF4	OMIM:301074
HP:0025615	Abscess	7040	TGFB1	OMIM:618213
HP:0025615	Abscess	92579	G6PC3	OMIM:612541
HP:0025615	Abscess	3587	IL10RA	OMIM:613148
HP:0025615	Abscess	22806	IKZF3	OMIM:619437
HP:0025615	Abscess	4149	MAX	OMIM:620712
HP:0025615	Abscess	3588	IL10RB	OMIM:612567
HP:0025615	Abscess	8737	RIPK1	OMIM:618108
HP:0025615	Abscess	29927	SEC61A1	OMIM:620674
HP:0025615	Abscess	3110	MNX1	OMIM:176450
HP:0025615	Abscess	567	B2M	OMIM:241600
HP:0025615	Abscess	641	BLM	ORPHA:125
HP:0025615	Abscess	4914	NTRK1	ORPHA:642
HP:0025615	Abscess	9948	WDR1	OMIM:150550
HP:0025615	Abscess	4615	MYD88	OMIM:612260
HP:0025615	Abscess	3937	LCP2	OMIM:619374
HP:0025615	Abscess	79415	CYBC1	OMIM:618935
HP:0025615	Abscess	3557	IL1RN	OMIM:612852
HP:0025615	Abscess	3932	LCK	OMIM:615758
HP:0025615	Abscess	5238	PGM3	OMIM:615816
HP:0025615	Abscess	9051	PSTPIP1	OMIM:604416
HP:0025615	Abscess	84905	ZNF341	OMIM:618282
HP:0025615	Abscess	4210	MEFV	ORPHA:3243
HP:0025615	Abscess	5777	PTPN6	ORPHA:3243
HP:0025615	Abscess	4921	DDR2	OMIM:618175
HP:0025615	Abscess	94	ACVRL1	OMIM:600376
HP:0025615	Abscess	2022	ENG	OMIM:187300
HP:0025615	Abscess	2261	FGFR3	OMIM:616482
HP:0025615	Abscess	1186	CLCN7	ORPHA:53
HP:0025615	Abscess	5251	PHEX	ORPHA:89936
HP:0025615	Abscess	8074	FGF23	ORPHA:89937
HP:0025615	Abscess	1758	DMP1	ORPHA:289176
HP:0025615	Abscess	5167	ENPP1	ORPHA:289176
HP:0025615	Abscess	1991	ELANE	ORPHA:2686
HP:0025615	Abscess	1747	DLX3	ORPHA:3352
HP:0025615	Abscess	81704	DOCK8	OMIM:243700
HP:0025615	Abscess	331	XIAP	ORPHA:538934
HP:0025615	Abscess	219972	MPEG1	OMIM:619223
HP:0025615	Abscess	6774	STAT3	OMIM:147060
HP:0025615	Abscess	6774	STAT3	ORPHA:2314
HP:0025615	Abscess	3572	IL6ST	OMIM:619752
HP:0025615	Abscess	146206	CARMIL2	OMIM:618131
HP:0025615	Abscess	3551	IKBKB	OMIM:618204
HP:0025615	Abscess	90268	OTULIN	OMIM:619986
HP:0025615	Abscess	3570	IL6R	OMIM:618944
HP:0025615	Abscess	23765	IL17RA	OMIM:613953
HP:0025615	Abscess	6730	SRP68	OMIM:620534
HP:0025615	Abscess	5244	ABCB4	ORPHA:69663
HP:0025615	Abscess	51135	IRAK4	OMIM:607676
HP:0025615	Abscess	3514	IGKC	ORPHA:183675
HP:0025615	Abscess	3501	IGHG2	ORPHA:183675
HP:0025615	Abscess	4689	NCF4	ORPHA:379
HP:0025615	Abscess	5314	PKHD1	ORPHA:53035
HP:0025615	Abscess	1075	CTSC	ORPHA:678
HP:0025615	Abscess	672	BRCA1	ORPHA:1333
HP:0025615	Abscess	285282	RABL3	ORPHA:1333
HP:0025615	Abscess	7157	TP53	ORPHA:1333
HP:0025615	Abscess	675	BRCA2	ORPHA:1333
HP:0025615	Abscess	3845	KRAS	ORPHA:1333
HP:0025615	Abscess	1029	CDKN2A	ORPHA:1333
HP:0025615	Abscess	79728	PALB2	ORPHA:1333
HP:0025615	Abscess	4089	SMAD4	ORPHA:1333
HP:0025615	Abscess	23022	PALLD	ORPHA:1333
HP:0025615	Abscess	695	BTK	ORPHA:47
HP:0025615	Abscess	10804	GJB6	ORPHA:477
HP:0025615	Abscess	2706	GJB2	ORPHA:477
HP:0025615	Abscess	7319	UBE2A	ORPHA:163956
HP:0025615	Abscess	55851	PSENEN	OMIM:613736
HP:0025615	Abscess	5663	PSEN1	OMIM:613737
HP:0030913	Exaggerated rugosity of the labia majora	2516	NR5A1	OMIM:612965
HP:0030914	Abnormal peristalsis	54809	SAMD9	OMIM:617053
HP:0030914	Abnormal peristalsis	2982	GUCY1A1	OMIM:615750
HP:0030914	Abnormal peristalsis	55699	IARS2	OMIM:616007
HP:0030914	Abnormal peristalsis	55699	IARS2	ORPHA:436174
HP:0030914	Abnormal peristalsis	6774	STAT3	OMIM:615952
HP:0030914	Abnormal peristalsis	10625	IVNS1ABP	OMIM:618969
HP:0030914	Abnormal peristalsis	29926	GMPPA	OMIM:615510
HP:0030914	Abnormal peristalsis	29926	GMPPA	ORPHA:869
HP:0030914	Abnormal peristalsis	60684	TRAPPC11	OMIM:615356
HP:0030914	Abnormal peristalsis	60684	TRAPPC11	ORPHA:869
HP:0030914	Abnormal peristalsis	8086	AAAS	ORPHA:869
HP:0030914	Abnormal peristalsis	8086	AAAS	OMIM:231550
HP:0030914	Abnormal peristalsis	2717	GLA	ORPHA:324
HP:0030914	Abnormal peristalsis	60	ACTB	ORPHA:79107
HP:0030914	Abnormal peristalsis	60	ACTB	OMIM:607371
HP:0030914	Abnormal peristalsis	4212	MEIS2	OMIM:600987
HP:0030914	Abnormal peristalsis	56246	MRAP	OMIM:607398
HP:0030914	Abnormal peristalsis	28982	FLVCR1	OMIM:609033
HP:0030914	Abnormal peristalsis	79827	CLMP	OMIM:615237
HP:0030914	Abnormal peristalsis	283446	MYO1H	OMIM:619482
HP:0030914	Abnormal peristalsis	8929	PHOX2B	OMIM:209880
HP:0030914	Abnormal peristalsis	5885	RAD21	OMIM:611376
HP:0030914	Abnormal peristalsis	25802	LMOD1	ORPHA:2241
HP:0030914	Abnormal peristalsis	4629	MYH11	ORPHA:2241
HP:0030914	Abnormal peristalsis	72	ACTG2	ORPHA:2241
HP:0030914	Abnormal peristalsis	4638	MYLK	ORPHA:2241
HP:0030914	Abnormal peristalsis	59	ACTA2	OMIM:613834
HP:0030914	Abnormal peristalsis	1288	COL4A6	ORPHA:1018
HP:0030914	Abnormal peristalsis	1287	COL4A5	ORPHA:1018
HP:0030914	Abnormal peristalsis	10398	MYL9	OMIM:619365
HP:0030915	Cerebellar edema	6326	SCN2A	OMIM:618924
HP:0030915	Cerebellar edema	128240	NAXE	OMIM:617186
HP:0030917	Low APGAR score	4534	MTM1	ORPHA:596
HP:0030917	Low APGAR score	55163	PNPO	ORPHA:79096
HP:0030917	Low APGAR score	9361	LONP1	ORPHA:79243
HP:0030917	Low APGAR score	5160	PDHA1	ORPHA:79243
HP:0030917	Low APGAR score	501	ALDH7A1	ORPHA:3006
HP:0030917	Low APGAR score	11212	PLPBP	ORPHA:3006
HP:0030917	Low APGAR score	55784	MCTP2	ORPHA:1596
HP:0030917	Low APGAR score	100033413	SNORD116-1	OMIM:176270
HP:0030917	Low APGAR score	8924	HERC2	OMIM:176270
HP:0030917	Low APGAR score	23742	NPAP1	OMIM:176270
HP:0030917	Low APGAR score	338433	SNORD115-1	OMIM:176270
HP:0030917	Low APGAR score	54551	MAGEL2	OMIM:176270
HP:0030917	Low APGAR score	7681	MKRN3	OMIM:176270
HP:0030917	Low APGAR score	145624	PWAR1	OMIM:176270
HP:0030917	Low APGAR score	3653	IPW	OMIM:176270
HP:0030917	Low APGAR score	791114	PWRN1	OMIM:176270
HP:0030917	Low APGAR score	5631	PRPS1	ORPHA:423479
HP:0030917	Low APGAR score	2261	FGFR3	OMIM:187600
HP:0030917	Low APGAR score	8239	USP9X	ORPHA:480880
HP:0030918	Low 1-minute APGAR score	55784	MCTP2	ORPHA:1596
HP:0030918	Low 1-minute APGAR score	4534	MTM1	OMIM:310400
HP:0030918	Low 1-minute APGAR score	100033413	SNORD116-1	OMIM:176270
HP:0030918	Low 1-minute APGAR score	8924	HERC2	OMIM:176270
HP:0030918	Low 1-minute APGAR score	23742	NPAP1	OMIM:176270
HP:0030918	Low 1-minute APGAR score	338433	SNORD115-1	OMIM:176270
HP:0030918	Low 1-minute APGAR score	54551	MAGEL2	OMIM:176270
HP:0030918	Low 1-minute APGAR score	7681	MKRN3	OMIM:176270
HP:0030918	Low 1-minute APGAR score	145624	PWAR1	OMIM:176270
HP:0030918	Low 1-minute APGAR score	3653	IPW	OMIM:176270
HP:0030918	Low 1-minute APGAR score	791114	PWRN1	OMIM:176270
HP:0030918	Low 1-minute APGAR score	5631	PRPS1	ORPHA:423479
HP:0030918	Low 1-minute APGAR score	2261	FGFR3	OMIM:187600
HP:0030918	Low 1-minute APGAR score	8239	USP9X	ORPHA:480880
HP:0030919	Low 5-minute APGAR score	4534	MTM1	OMIM:310400
HP:0030919	Low 5-minute APGAR score	100033413	SNORD116-1	OMIM:176270
HP:0030919	Low 5-minute APGAR score	8924	HERC2	OMIM:176270
HP:0030919	Low 5-minute APGAR score	23742	NPAP1	OMIM:176270
HP:0030919	Low 5-minute APGAR score	338433	SNORD115-1	OMIM:176270
HP:0030919	Low 5-minute APGAR score	54551	MAGEL2	OMIM:176270
HP:0030919	Low 5-minute APGAR score	7681	MKRN3	OMIM:176270
HP:0030919	Low 5-minute APGAR score	145624	PWAR1	OMIM:176270
HP:0030919	Low 5-minute APGAR score	3653	IPW	OMIM:176270
HP:0030919	Low 5-minute APGAR score	791114	PWRN1	OMIM:176270
HP:0030919	Low 5-minute APGAR score	2261	FGFR3	OMIM:187600
HP:0030919	Low 5-minute APGAR score	5631	PRPS1	ORPHA:423479
HP:0030919	Low 5-minute APGAR score	8239	USP9X	ORPHA:480880
HP:0025616	Sterile abscess	9051	PSTPIP1	OMIM:604416
HP:0025616	Sterile abscess	84905	ZNF341	OMIM:618282
HP:0025616	Sterile abscess	4210	MEFV	ORPHA:3243
HP:0025616	Sterile abscess	5777	PTPN6	ORPHA:3243
HP:0025616	Sterile abscess	4921	DDR2	OMIM:618175
HP:0410388	Decreased proportion of central memory CD4-positive, alpha-beta T cells	8915	BCL10	OMIM:616098
HP:0030921	5-minute APGAR score of 1	2261	FGFR3	OMIM:187600
HP:0030921	5-minute APGAR score of 1	5631	PRPS1	ORPHA:423479
HP:0030925	5-minute APGAR score of 5	8239	USP9X	ORPHA:480880
HP:0030927	1-minute APGAR score of 0	5631	PRPS1	ORPHA:423479
HP:0030928	1-minute APGAR score of 1	2261	FGFR3	OMIM:187600
HP:0030928	1-minute APGAR score of 1	8239	USP9X	ORPHA:480880
HP:0025630	Argininosuccinic aciduria	435	ASL	ORPHA:23
HP:0025630	Argininosuccinic aciduria	10165	SLC25A13	OMIM:603471
HP:0025631	Alpha-aminobutyric aciduria	54914	FOCAD	OMIM:619991
HP:0025632	Reduced reactive oxygen species production in neutrophils	3937	LCP2	OMIM:619374
HP:0025633	Abnormal ureter morphology	3655	ITGA6	ORPHA:79403
HP:0025633	Abnormal ureter morphology	3691	ITGB4	ORPHA:79403
HP:0025633	Abnormal ureter morphology	3691	ITGB4	ORPHA:158684
HP:0025633	Abnormal ureter morphology	3909	LAMA3	ORPHA:79404
HP:0025633	Abnormal ureter morphology	3918	LAMC2	ORPHA:79404
HP:0025633	Abnormal ureter morphology	3914	LAMB3	ORPHA:79404
HP:0025633	Abnormal ureter morphology	3975	LHX1	ORPHA:261265
HP:0025633	Abnormal ureter morphology	6928	HNF1B	ORPHA:261265
HP:0025633	Abnormal ureter morphology	5339	PLEC	ORPHA:158684
HP:0025633	Abnormal ureter morphology	5190	PEX6	OMIM:614863
HP:0025633	Abnormal ureter morphology	10982	MAPRE2	OMIM:616734
HP:0025633	Abnormal ureter morphology	6792	CDKL5	ORPHA:1934
HP:0025633	Abnormal ureter morphology	3736	KCNA1	ORPHA:1934
HP:0025633	Abnormal ureter morphology	9091	PIGQ	ORPHA:1934
HP:0025633	Abnormal ureter morphology	140679	SLC32A1	ORPHA:1934
HP:0025633	Abnormal ureter morphology	2775	GNAO1	ORPHA:1934
HP:0025633	Abnormal ureter morphology	81603	TRIM8	ORPHA:1934
HP:0025633	Abnormal ureter morphology	2902	GRIN1	ORPHA:1934
HP:0025633	Abnormal ureter morphology	79751	SLC25A22	ORPHA:1934
HP:0025633	Abnormal ureter morphology	150094	SIK1	ORPHA:1934
HP:0025633	Abnormal ureter morphology	8573	CASK	ORPHA:1934
HP:0025633	Abnormal ureter morphology	23312	DMXL2	ORPHA:1934
HP:0025633	Abnormal ureter morphology	2917	GRM7	ORPHA:1934
HP:0025633	Abnormal ureter morphology	170302	ARX	ORPHA:1934
HP:0025633	Abnormal ureter morphology	11284	PNKP	ORPHA:1934
HP:0025633	Abnormal ureter morphology	6326	SCN2A	ORPHA:1934
HP:0025633	Abnormal ureter morphology	51227	PIGP	ORPHA:1934
HP:0025633	Abnormal ureter morphology	6324	SCN1B	ORPHA:1934
HP:0025633	Abnormal ureter morphology	4761	NEUROD2	ORPHA:1934
HP:0025633	Abnormal ureter morphology	8626	TP63	OMIM:604292
HP:0025633	Abnormal ureter morphology	5337	PLD1	OMIM:212093
HP:0025633	Abnormal ureter morphology	9653	HS2ST1	OMIM:619194
HP:0025633	Abnormal ureter morphology	2294	FOXF1	OMIM:265380
HP:0025633	Abnormal ureter morphology	4638	MYLK	OMIM:249210
HP:0025633	Abnormal ureter morphology	4638	MYLK	ORPHA:2241
HP:0025633	Abnormal ureter morphology	54880	BCOR	OMIM:309800
HP:0025633	Abnormal ureter morphology	54880	BCOR	ORPHA:568
HP:0025633	Abnormal ureter morphology	8260	NAA10	OMIM:309800
HP:0025633	Abnormal ureter morphology	8260	NAA10	ORPHA:568
HP:0025633	Abnormal ureter morphology	51604	PIGT	OMIM:615398
HP:0025633	Abnormal ureter morphology	72	ACTG2	OMIM:619431
HP:0025633	Abnormal ureter morphology	72	ACTG2	ORPHA:2604
HP:0025633	Abnormal ureter morphology	72	ACTG2	ORPHA:2241
HP:0025633	Abnormal ureter morphology	54101	RIPK4	ORPHA:1401
HP:0025633	Abnormal ureter morphology	92002	CCNQ	OMIM:300707
HP:0025633	Abnormal ureter morphology	1161	ERCC8	ORPHA:90324
HP:0025633	Abnormal ureter morphology	2074	ERCC6	ORPHA:90324
HP:0025633	Abnormal ureter morphology	1909	EDNRA	OMIM:616367
HP:0025633	Abnormal ureter morphology	8195	MKKS	OMIM:236700
HP:0025633	Abnormal ureter morphology	1131	CHRM3	ORPHA:2970
HP:0025633	Abnormal ureter morphology	1131	CHRM3	OMIM:100100
HP:0025633	Abnormal ureter morphology	554	AVPR2	ORPHA:223
HP:0025633	Abnormal ureter morphology	359	AQP2	ORPHA:223
HP:0025633	Abnormal ureter morphology	23556	PIGN	ORPHA:280633
HP:0025633	Abnormal ureter morphology	51715	RAB23	OMIM:201000
HP:0025633	Abnormal ureter morphology	25802	LMOD1	OMIM:619362
HP:0025633	Abnormal ureter morphology	25802	LMOD1	ORPHA:2241
HP:0025633	Abnormal ureter morphology	4629	MYH11	ORPHA:2241
HP:0025633	Abnormal ureter morphology	9126	SMC3	OMIM:610759
HP:0025633	Abnormal ureter morphology	56975	FAM20C	OMIM:259775
HP:0025633	Abnormal ureter morphology	9968	MED12	OMIM:301068
HP:0025633	Abnormal ureter morphology	2316	FLNA	OMIM:305620
HP:0025633	Abnormal ureter morphology	2239	GPC4	ORPHA:373
HP:0025633	Abnormal ureter morphology	2719	GPC3	ORPHA:373
HP:0025633	Abnormal ureter morphology	51360	MBTPS2	ORPHA:2273
HP:0025633	Abnormal ureter morphology	57492	ARID1B	OMIM:135900
HP:0025633	Abnormal ureter morphology	25915	NDUFAF3	OMIM:618240
HP:0025633	Abnormal ureter morphology	100151683	RNU4ATAC	ORPHA:2636
HP:0025633	Abnormal ureter morphology	64321	SOX17	OMIM:613674
HP:0025633	Abnormal ureter morphology	672	BRCA1	ORPHA:84
HP:0025633	Abnormal ureter morphology	10459	MAD2L2	ORPHA:84
HP:0025633	Abnormal ureter morphology	7516	XRCC2	ORPHA:84
HP:0025633	Abnormal ureter morphology	29089	UBE2T	ORPHA:84
HP:0025633	Abnormal ureter morphology	675	BRCA2	ORPHA:84
HP:0025633	Abnormal ureter morphology	55120	FANCL	ORPHA:84
HP:0025633	Abnormal ureter morphology	2177	FANCD2	ORPHA:84
HP:0025633	Abnormal ureter morphology	2175	FANCA	ORPHA:84
HP:0025633	Abnormal ureter morphology	2187	FANCB	ORPHA:84
HP:0025633	Abnormal ureter morphology	2176	FANCC	ORPHA:84
HP:0025633	Abnormal ureter morphology	2178	FANCE	ORPHA:84
HP:0025633	Abnormal ureter morphology	2188	FANCF	ORPHA:84
HP:0025633	Abnormal ureter morphology	2189	FANCG	ORPHA:84
HP:0025633	Abnormal ureter morphology	5888	RAD51	ORPHA:84
HP:0025633	Abnormal ureter morphology	5889	RAD51C	ORPHA:84
HP:0025633	Abnormal ureter morphology	55159	RFWD3	ORPHA:84
HP:0025633	Abnormal ureter morphology	83990	BRIP1	ORPHA:84
HP:0025633	Abnormal ureter morphology	57697	FANCM	ORPHA:84
HP:0025633	Abnormal ureter morphology	79728	PALB2	ORPHA:84
HP:0025633	Abnormal ureter morphology	84464	SLX4	ORPHA:84
HP:0025633	Abnormal ureter morphology	2072	ERCC4	ORPHA:84
HP:0025633	Abnormal ureter morphology	55215	FANCI	ORPHA:84
HP:0025633	Abnormal ureter morphology	71	ACTG1	ORPHA:2995
HP:0025633	Abnormal ureter morphology	60	ACTB	ORPHA:2995
HP:0025633	Abnormal ureter morphology	5566	PRKACA	ORPHA:289
HP:0025633	Abnormal ureter morphology	5567	PRKACB	ORPHA:289
HP:0025633	Abnormal ureter morphology	2735	GLI1	ORPHA:289
HP:0025633	Abnormal ureter morphology	2121	EVC	ORPHA:289
HP:0025633	Abnormal ureter morphology	51626	DYNC2LI1	ORPHA:289
HP:0025633	Abnormal ureter morphology	132884	EVC2	ORPHA:289
HP:0025633	Abnormal ureter morphology	7466	WFS1	OMIM:222300
HP:0025633	Abnormal ureter morphology	166379	BBS12	OMIM:615989
HP:0025633	Abnormal ureter morphology	1642	DDB1	OMIM:619426
HP:0025633	Abnormal ureter morphology	6655	SOS2	OMIM:616559
HP:0025633	Abnormal ureter morphology	63895	PIEZO2	ORPHA:2461
HP:0025633	Abnormal ureter morphology	9096	TBX18	OMIM:143400
HP:0025633	Abnormal ureter morphology	26040	SETBP1	OMIM:269150
HP:0025633	Abnormal ureter morphology	60495	HPSE2	OMIM:236730
HP:0025633	Abnormal ureter morphology	6874	TAF4	OMIM:620450
HP:0025633	Abnormal ureter morphology	2737	GLI3	OMIM:146510
HP:0025633	Abnormal ureter morphology	9361	LONP1	ORPHA:1458
HP:0025633	Abnormal ureter morphology	1376	CPT2	OMIM:608836
HP:0025633	Abnormal ureter morphology	64840	PORCN	OMIM:305600
HP:0025633	Abnormal ureter morphology	8312	AXIN1	OMIM:607864
HP:0025633	Abnormal ureter morphology	388662	SLC6A17	ORPHA:457212
HP:0025633	Abnormal ureter morphology	54892	NCAPG2	OMIM:618460
HP:0025633	Abnormal ureter morphology	145173	B3GLCT	OMIM:261540
HP:0025633	Abnormal ureter morphology	145173	B3GLCT	ORPHA:709
HP:0025633	Abnormal ureter morphology	4000	LMNA	ORPHA:1662
HP:0025633	Abnormal ureter morphology	10269	ZMPSTE24	ORPHA:1662
HP:0025633	Abnormal ureter morphology	10269	ZMPSTE24	OMIM:275210
HP:0025633	Abnormal ureter morphology	284252	KCTD1	ORPHA:2036
HP:0025633	Abnormal ureter morphology	2627	GATA6	ORPHA:2255
HP:0025633	Abnormal ureter morphology	2627	GATA6	OMIM:600001
HP:0025633	Abnormal ureter morphology	5718	PSMD12	OMIM:617516
HP:0025633	Abnormal ureter morphology	9939	RBM8A	OMIM:274000
HP:0025633	Abnormal ureter morphology	4838	NODAL	OMIM:270100
HP:0025633	Abnormal ureter morphology	81839	VANGL1	ORPHA:3027
HP:0025633	Abnormal ureter morphology	80199	FUZ	ORPHA:3027
HP:0025633	Abnormal ureter morphology	64324	NSD1	ORPHA:821
HP:0025633	Abnormal ureter morphology	10297	APC2	ORPHA:821
HP:0025633	Abnormal ureter morphology	10653	SPINT2	OMIM:270420
HP:0025633	Abnormal ureter morphology	84314	TMEM107	ORPHA:564
HP:0025633	Abnormal ureter morphology	26123	TCTN3	ORPHA:564
HP:0025633	Abnormal ureter morphology	79867	TCTN2	ORPHA:564
HP:0025633	Abnormal ureter morphology	80776	B9D2	ORPHA:564
HP:0025633	Abnormal ureter morphology	79600	TCTN1	ORPHA:564
HP:0025633	Abnormal ureter morphology	57096	RPGRIP1	ORPHA:564
HP:0025633	Abnormal ureter morphology	79848	CSPP1	ORPHA:564
HP:0025633	Abnormal ureter morphology	80184	CEP290	ORPHA:564
HP:0025633	Abnormal ureter morphology	51259	TMEM216	ORPHA:564
HP:0025633	Abnormal ureter morphology	57545	CC2D2A	ORPHA:564
HP:0025633	Abnormal ureter morphology	79583	TMEM231	ORPHA:564
HP:0025633	Abnormal ureter morphology	91147	TMEM67	ORPHA:564
HP:0025633	Abnormal ureter morphology	79770	TXNDC15	ORPHA:564
HP:0025633	Abnormal ureter morphology	27077	B9D1	ORPHA:564
HP:0025633	Abnormal ureter morphology	23322	RPGRIP1L	ORPHA:564
HP:0025633	Abnormal ureter morphology	54903	MKS1	ORPHA:564
HP:0025633	Abnormal ureter morphology	65062	TMEM237	ORPHA:564
HP:0025633	Abnormal ureter morphology	9742	IFT140	OMIM:266920
HP:0025633	Abnormal ureter morphology	6654	SOS1	OMIM:610733
HP:0025633	Abnormal ureter morphology	8085	KMT2D	OMIM:147920
HP:0025633	Abnormal ureter morphology	7403	KDM6A	OMIM:147920
HP:0025633	Abnormal ureter morphology	55191	NADSYN1	OMIM:618845
HP:0025633	Abnormal ureter morphology	57724	EPG5	ORPHA:1493
HP:0025633	Abnormal ureter morphology	27031	NPHP3	OMIM:208540
HP:0025633	Abnormal ureter morphology	23426	GRIP1	OMIM:617667
HP:0025633	Abnormal ureter morphology	341640	FREM2	OMIM:617666
HP:0025633	Abnormal ureter morphology	9928	KIF14	OMIM:617914
HP:0025633	Abnormal ureter morphology	55165	CEP55	OMIM:236500
HP:0025633	Abnormal ureter morphology	80781	COL18A1	OMIM:267750
HP:0025633	Abnormal ureter morphology	80781	COL18A1	ORPHA:1571
HP:0025633	Abnormal ureter morphology	9158	FIBP	OMIM:617107
HP:0025633	Abnormal ureter morphology	9158	FIBP	ORPHA:500095
HP:0025633	Abnormal ureter morphology	5062	PAK2	ORPHA:1571
HP:0025633	Abnormal ureter morphology	5087	PBX1	OMIM:617641
HP:0025633	Abnormal ureter morphology	79796	ALG9	ORPHA:79328
HP:0025633	Abnormal ureter morphology	353	APRT	OMIM:614723
HP:0025633	Abnormal ureter morphology	5631	PRPS1	OMIM:300661
HP:0025633	Abnormal ureter morphology	116085	SLC22A12	OMIM:220150
HP:0025633	Abnormal ureter morphology	2934	GSN	OMIM:105120
HP:0025634	Abnormal ureter physiology	1009	CDH11	ORPHA:1299
HP:0025634	Abnormal ureter physiology	1493	CTLA4	ORPHA:900
HP:0025634	Abnormal ureter physiology	26191	PTPN22	ORPHA:900
HP:0025634	Abnormal ureter physiology	3115	HLA-DPB1	ORPHA:900
HP:0025634	Abnormal ureter physiology	5657	PRTN3	ORPHA:900
HP:0025634	Abnormal ureter physiology	3113	HLA-DPA1	ORPHA:900
HP:0025634	Abnormal ureter physiology	26040	SETBP1	OMIM:269150
HP:0025634	Abnormal ureter physiology	4838	NODAL	OMIM:270100
HP:0025634	Abnormal ureter physiology	51604	PIGT	OMIM:615398
HP:0025634	Abnormal ureter physiology	7528	YY1	ORPHA:506358
HP:0025634	Abnormal ureter physiology	7528	YY1	OMIM:617557
HP:0025634	Abnormal ureter physiology	7355	SLC35A2	OMIM:300896
HP:0025634	Abnormal ureter physiology	6928	HNF1B	OMIM:137920
HP:0025634	Abnormal ureter physiology	9487	PIGL	OMIM:280000
HP:0025634	Abnormal ureter physiology	1717	DHCR7	OMIM:270400
HP:0025634	Abnormal ureter physiology	1717	DHCR7	ORPHA:818
HP:0025634	Abnormal ureter physiology	2972	BRF1	ORPHA:444072
HP:0025634	Abnormal ureter physiology	2782	GNB1	OMIM:616973
HP:0025634	Abnormal ureter physiology	10861	SLC26A1	OMIM:167030
HP:0025634	Abnormal ureter physiology	4654	MYOD1	OMIM:618975
HP:0025634	Abnormal ureter physiology	9096	TBX18	OMIM:143400
HP:0025634	Abnormal ureter physiology	25970	SH2B1	ORPHA:261222
HP:0025634	Abnormal ureter physiology	5076	PAX2	ORPHA:97362
HP:0025634	Abnormal ureter physiology	5076	PAX2	ORPHA:1475
HP:0025634	Abnormal ureter physiology	5076	PAX2	OMIM:120330
HP:0025634	Abnormal ureter physiology	5087	PBX1	ORPHA:97362
HP:0025634	Abnormal ureter physiology	5087	PBX1	OMIM:617641
HP:0025634	Abnormal ureter physiology	10617	STAMBP	OMIM:614261
HP:0025634	Abnormal ureter physiology	8294	H4C9	OMIM:619951
HP:0025634	Abnormal ureter physiology	2138	EYA1	OMIM:113650
HP:0025634	Abnormal ureter physiology	2138	EYA1	ORPHA:107
HP:0025634	Abnormal ureter physiology	6495	SIX1	OMIM:113650
HP:0025634	Abnormal ureter physiology	6495	SIX1	OMIM:605192
HP:0025634	Abnormal ureter physiology	6495	SIX1	ORPHA:107
HP:0025634	Abnormal ureter physiology	54892	NCAPG2	OMIM:618460
HP:0025634	Abnormal ureter physiology	9860	LRIG2	OMIM:615112
HP:0025634	Abnormal ureter physiology	9860	LRIG2	ORPHA:2704
HP:0025634	Abnormal ureter physiology	26128	KIFBP	OMIM:609460
HP:0025634	Abnormal ureter physiology	23556	PIGN	ORPHA:2059
HP:0025634	Abnormal ureter physiology	23556	PIGN	OMIM:614080
HP:0025634	Abnormal ureter physiology	1788	DNMT3A	OMIM:615879
HP:0025634	Abnormal ureter physiology	5361	PLXNA1	OMIM:619955
HP:0025634	Abnormal ureter physiology	253738	EBF3	ORPHA:96148
HP:0025634	Abnormal ureter physiology	253738	EBF3	OMIM:617330
HP:0025634	Abnormal ureter physiology	3209	HOXA13	OMIM:140000
HP:0025634	Abnormal ureter physiology	3209	HOXA13	ORPHA:2438
HP:0025634	Abnormal ureter physiology	90459	ERI1	OMIM:620663
HP:0025634	Abnormal ureter physiology	90459	ERI1	OMIM:620662
HP:0025634	Abnormal ureter physiology	4774	NFIA	OMIM:613735
HP:0025634	Abnormal ureter physiology	79813	EHMT1	ORPHA:96147
HP:0025634	Abnormal ureter physiology	79813	EHMT1	ORPHA:261652
HP:0025634	Abnormal ureter physiology	10992	SF3B2	OMIM:164210
HP:0025634	Abnormal ureter physiology	85358	SHANK3	OMIM:606232
HP:0025634	Abnormal ureter physiology	1131	CHRM3	ORPHA:2970
HP:0025634	Abnormal ureter physiology	57167	SALL4	OMIM:607323
HP:0025634	Abnormal ureter physiology	57167	SALL4	ORPHA:959
HP:0025634	Abnormal ureter physiology	8626	TP63	OMIM:604292
HP:0025634	Abnormal ureter physiology	8626	TP63	ORPHA:93930
HP:0025634	Abnormal ureter physiology	8626	TP63	ORPHA:1896
HP:0025634	Abnormal ureter physiology	81839	VANGL1	ORPHA:3027
HP:0025634	Abnormal ureter physiology	80199	FUZ	ORPHA:3027
HP:0025634	Abnormal ureter physiology	64324	NSD1	ORPHA:821
HP:0025634	Abnormal ureter physiology	10297	APC2	ORPHA:821
HP:0025634	Abnormal ureter physiology	5447	POR	ORPHA:95699
HP:0025634	Abnormal ureter physiology	55593	OTUD5	OMIM:301056
HP:0025634	Abnormal ureter physiology	3190	HNRNPK	ORPHA:453504
HP:0025634	Abnormal ureter physiology	3190	HNRNPK	OMIM:616580
HP:0025634	Abnormal ureter physiology	3190	HNRNPK	ORPHA:352665
HP:0025634	Abnormal ureter physiology	27125	AFF4	ORPHA:444077
HP:0025634	Abnormal ureter physiology	27125	AFF4	OMIM:616368
HP:0025634	Abnormal ureter physiology	80114	BICC1	OMIM:601331
HP:0025634	Abnormal ureter physiology	6299	SALL1	OMIM:107480
HP:0025634	Abnormal ureter physiology	6299	SALL1	ORPHA:857
HP:0025634	Abnormal ureter physiology	4281	MID1	OMIM:300000
HP:0025634	Abnormal ureter physiology	4281	MID1	ORPHA:2745
HP:0025634	Abnormal ureter physiology	23498	HAAO	OMIM:617660
HP:0025634	Abnormal ureter physiology	1387	CREBBP	ORPHA:353281
HP:0025634	Abnormal ureter physiology	1387	CREBBP	ORPHA:353277
HP:0025634	Abnormal ureter physiology	51506	UFC1	OMIM:618076
HP:0025634	Abnormal ureter physiology	473	RERE	OMIM:616975
HP:0025634	Abnormal ureter physiology	473	RERE	ORPHA:494344
HP:0025634	Abnormal ureter physiology	3313	HSPA9	OMIM:616854
HP:0025634	Abnormal ureter physiology	55215	FANCI	OMIM:609053
HP:0025634	Abnormal ureter physiology	72	ACTG2	ORPHA:2604
HP:0025634	Abnormal ureter physiology	72	ACTG2	OMIM:155310
HP:0025634	Abnormal ureter physiology	2033	EP300	ORPHA:353284
HP:0025634	Abnormal ureter physiology	9915	ARNT2	OMIM:615926
HP:0025634	Abnormal ureter physiology	6092	ROBO2	OMIM:610878
HP:0025634	Abnormal ureter physiology	55636	CHD7	ORPHA:138
HP:0025634	Abnormal ureter physiology	9723	SEMA3E	ORPHA:138
HP:0025634	Abnormal ureter physiology	2188	FANCF	OMIM:603467
HP:0025634	Abnormal ureter physiology	23005	MAPKBP1	OMIM:617271
HP:0025634	Abnormal ureter physiology	2263	FGFR2	ORPHA:93260
HP:0025634	Abnormal ureter physiology	2263	FGFR2	ORPHA:2363
HP:0025634	Abnormal ureter physiology	51473	DCDC2	OMIM:617394
HP:0025634	Abnormal ureter physiology	284058	KANSL1	ORPHA:363958
HP:0025634	Abnormal ureter physiology	284058	KANSL1	ORPHA:363965
HP:0025634	Abnormal ureter physiology	284058	KANSL1	OMIM:610443
HP:0025634	Abnormal ureter physiology	1136	CHRNA3	OMIM:191800
HP:0025634	Abnormal ureter physiology	9401	RECQL4	ORPHA:1225
HP:0025634	Abnormal ureter physiology	10616	RBCK1	OMIM:615895
HP:0025634	Abnormal ureter physiology	1108	CHD4	OMIM:617159
HP:0025634	Abnormal ureter physiology	9675	TTI1	OMIM:620445
HP:0025634	Abnormal ureter physiology	7080	NKX2-1	ORPHA:209905
HP:0025634	Abnormal ureter physiology	1312	COMT	ORPHA:567
HP:0025634	Abnormal ureter physiology	221037	JMJD1C	ORPHA:567
HP:0025634	Abnormal ureter physiology	2812	GP1BB	ORPHA:567
HP:0025634	Abnormal ureter physiology	6239	RREB1	ORPHA:567
HP:0025634	Abnormal ureter physiology	6899	TBX1	ORPHA:567
HP:0025634	Abnormal ureter physiology	7290	HIRA	ORPHA:567
HP:0025634	Abnormal ureter physiology	9632	SEC24C	ORPHA:567
HP:0025634	Abnormal ureter physiology	7353	UFD1	ORPHA:567
HP:0025634	Abnormal ureter physiology	421	ARVCF	ORPHA:567
HP:0025634	Abnormal ureter physiology	3670	ISL1	ORPHA:93930
HP:0025634	Abnormal ureter physiology	25778	DSTYK	OMIM:610805
HP:0025634	Abnormal ureter physiology	22827	PUF60	ORPHA:508488
HP:0025634	Abnormal ureter physiology	9839	ZEB2	ORPHA:261552
HP:0025634	Abnormal ureter physiology	9839	ZEB2	ORPHA:261537
HP:0025634	Abnormal ureter physiology	10524	KAT5	OMIM:619103
HP:0025634	Abnormal ureter physiology	1656	DDX6	OMIM:618653
HP:0025634	Abnormal ureter physiology	5718	PSMD12	ORPHA:529962
HP:0025634	Abnormal ureter physiology	2186	BPTF	ORPHA:529962
HP:0025634	Abnormal ureter physiology	5277	PIGA	OMIM:300868
HP:0025634	Abnormal ureter physiology	6885	MAP3K7	OMIM:157800
HP:0025634	Abnormal ureter physiology	57178	ZMIZ1	OMIM:618659
HP:0025634	Abnormal ureter physiology	8550	MAPKAPK5	OMIM:619869
HP:0025634	Abnormal ureter physiology	60495	HPSE2	ORPHA:2704
HP:0025634	Abnormal ureter physiology	80781	COL18A1	ORPHA:1571
HP:0025634	Abnormal ureter physiology	5062	PAK2	ORPHA:1571
HP:0025634	Abnormal ureter physiology	54496	PRMT7	ORPHA:464288
HP:0025634	Abnormal ureter physiology	3192	HNRNPU	ORPHA:238769
HP:0025634	Abnormal ureter physiology	23476	BRD4	ORPHA:199
HP:0025634	Abnormal ureter physiology	9126	SMC3	ORPHA:199
HP:0025634	Abnormal ureter physiology	8243	SMC1A	ORPHA:199
HP:0025634	Abnormal ureter physiology	6878	TAF6	ORPHA:199
HP:0025634	Abnormal ureter physiology	25836	NIPBL	ORPHA:199
HP:0025634	Abnormal ureter physiology	25836	NIPBL	OMIM:122470
HP:0025634	Abnormal ureter physiology	55869	HDAC8	ORPHA:199
HP:0025634	Abnormal ureter physiology	5885	RAD21	ORPHA:199
HP:0025634	Abnormal ureter physiology	5885	RAD21	ORPHA:502
HP:0025634	Abnormal ureter physiology	5885	RAD21	OMIM:611376
HP:0025634	Abnormal ureter physiology	92482	BBIP1	ORPHA:110
HP:0025634	Abnormal ureter physiology	80184	CEP290	ORPHA:110
HP:0025634	Abnormal ureter physiology	11020	IFT27	ORPHA:110
HP:0025634	Abnormal ureter physiology	582	BBS1	ORPHA:110
HP:0025634	Abnormal ureter physiology	49855	SCAPER	ORPHA:110
HP:0025634	Abnormal ureter physiology	4867	NPHP1	ORPHA:110
HP:0025634	Abnormal ureter physiology	51057	WDPCP	ORPHA:110
HP:0025634	Abnormal ureter physiology	132320	SCLT1	ORPHA:110
HP:0025634	Abnormal ureter physiology	27241	BBS9	ORPHA:110
HP:0025634	Abnormal ureter physiology	84984	CEP19	ORPHA:110
HP:0025634	Abnormal ureter physiology	22954	TRIM32	ORPHA:110
HP:0025634	Abnormal ureter physiology	54903	MKS1	ORPHA:110
HP:0025634	Abnormal ureter physiology	79738	BBS10	ORPHA:110
HP:0025634	Abnormal ureter physiology	123016	TTC8	ORPHA:110
HP:0025634	Abnormal ureter physiology	26160	IFT172	ORPHA:110
HP:0025634	Abnormal ureter physiology	583	BBS2	ORPHA:110
HP:0025634	Abnormal ureter physiology	585	BBS4	ORPHA:110
HP:0025634	Abnormal ureter physiology	8195	MKKS	ORPHA:110
HP:0025634	Abnormal ureter physiology	54585	LZTFL1	ORPHA:110
HP:0025634	Abnormal ureter physiology	55212	BBS7	ORPHA:110
HP:0025634	Abnormal ureter physiology	166379	BBS12	ORPHA:110
HP:0025634	Abnormal ureter physiology	10806	SDCCAG8	ORPHA:110
HP:0025634	Abnormal ureter physiology	157657	CFAP418	ORPHA:110
HP:0025634	Abnormal ureter physiology	84100	ARL6	ORPHA:110
HP:0025634	Abnormal ureter physiology	129880	BBS5	ORPHA:110
HP:0025634	Abnormal ureter physiology	80173	IFT74	ORPHA:110
HP:0025634	Abnormal ureter physiology	4613	MYCN	ORPHA:391641
HP:0025634	Abnormal ureter physiology	5530	PPP3CA	OMIM:618265
HP:0025634	Abnormal ureter physiology	6135	RPL11	OMIM:612562
HP:0025634	Abnormal ureter physiology	92002	CCNQ	OMIM:300707
HP:0025634	Abnormal ureter physiology	92002	CCNQ	ORPHA:140952
HP:0025634	Abnormal ureter physiology	6804	STX1A	ORPHA:904
HP:0025634	Abnormal ureter physiology	7461	CLIP2	ORPHA:904
HP:0025634	Abnormal ureter physiology	84277	DNAJC30	ORPHA:904
HP:0025634	Abnormal ureter physiology	8468	FKBP6	ORPHA:904
HP:0025634	Abnormal ureter physiology	5982	RFC2	ORPHA:904
HP:0025634	Abnormal ureter physiology	2969	GTF2I	ORPHA:904
HP:0025634	Abnormal ureter physiology	3984	LIMK1	ORPHA:904
HP:0025634	Abnormal ureter physiology	9569	GTF2IRD1	ORPHA:904
HP:0025634	Abnormal ureter physiology	155382	VPS37D	ORPHA:904
HP:0025634	Abnormal ureter physiology	155368	METTL27	ORPHA:904
HP:0025634	Abnormal ureter physiology	114049	BUD23	ORPHA:904
HP:0025634	Abnormal ureter physiology	7458	EIF4H	ORPHA:904
HP:0025634	Abnormal ureter physiology	84163	GTF2IRD2	ORPHA:904
HP:0025634	Abnormal ureter physiology	26608	TBL2	ORPHA:904
HP:0025634	Abnormal ureter physiology	653361	NCF1	ORPHA:904
HP:0025634	Abnormal ureter physiology	135886	TMEM270	ORPHA:904
HP:0025634	Abnormal ureter physiology	9031	BAZ1B	ORPHA:904
HP:0025634	Abnormal ureter physiology	2006	ELN	ORPHA:904
HP:0025634	Abnormal ureter physiology	2006	ELN	OMIM:194050
HP:0025634	Abnormal ureter physiology	9091	PIGQ	OMIM:618548
HP:0025634	Abnormal ureter physiology	84720	PIGO	OMIM:614749
HP:0025634	Abnormal ureter physiology	54796	BNC2	ORPHA:93110
HP:0025634	Abnormal ureter physiology	54796	BNC2	OMIM:618612
HP:0025634	Abnormal ureter physiology	8405	SPOP	OMIM:618828
HP:0025634	Abnormal ureter physiology	147912	SIX5	ORPHA:107
HP:0025634	Abnormal ureter physiology	2131	EXT1	ORPHA:502
HP:0025634	Abnormal ureter physiology	7227	TRPS1	ORPHA:502
HP:0025634	Abnormal ureter physiology	8204	NRIP1	OMIM:618270
HP:0025634	Abnormal ureter physiology	58508	KMT2C	ORPHA:261652
HP:0025634	Abnormal ureter physiology	8318	CDC45	OMIM:617063
HP:0025634	Abnormal ureter physiology	253959	RALGAPA1	OMIM:618797
HP:0025634	Abnormal ureter physiology	1857	DVL3	OMIM:616894
HP:0025634	Abnormal ureter physiology	51339	DACT1	OMIM:617466
HP:0025634	Abnormal ureter physiology	51339	DACT1	ORPHA:857
HP:0025634	Abnormal ureter physiology	7148	TNXB	OMIM:615963
HP:0025634	Abnormal ureter physiology	7148	TNXB	OMIM:606408
HP:0025634	Abnormal ureter physiology	3110	MNX1	ORPHA:1552
HP:0025634	Abnormal ureter physiology	3110	MNX1	OMIM:176450
HP:0025634	Abnormal ureter physiology	182	JAG1	OMIM:118450
HP:0025634	Abnormal ureter physiology	2261	FGFR3	ORPHA:2363
HP:0025634	Abnormal ureter physiology	2255	FGF10	ORPHA:2363
HP:0025634	Abnormal ureter physiology	2316	FLNA	ORPHA:2484
HP:0025634	Abnormal ureter physiology	51085	MLXIPL	OMIM:194050
HP:0025634	Abnormal ureter physiology	5080	PAX6	OMIM:120200
HP:0025634	Abnormal ureter physiology	11128	POLR3A	ORPHA:3455
HP:0025634	Abnormal ureter physiology	9968	MED12	OMIM:301068
HP:0025634	Abnormal ureter physiology	7369	UMOD	OMIM:162000
HP:0025634	Abnormal ureter physiology	64220	STRA6	ORPHA:2470
HP:0025634	Abnormal ureter physiology	7477	WNT7B	ORPHA:2470
HP:0025634	Abnormal ureter physiology	5915	RARB	ORPHA:2470
HP:0025634	Abnormal ureter physiology	1028	CDKN1C	OMIM:130650
HP:0025634	Abnormal ureter physiology	3481	IGF2	OMIM:130650
HP:0025634	Abnormal ureter physiology	3784	KCNQ1	OMIM:130650
HP:0025634	Abnormal ureter physiology	10984	KCNQ1OT1	OMIM:130650
HP:0025634	Abnormal ureter physiology	51360	MBTPS2	ORPHA:85284
HP:0025634	Abnormal ureter physiology	546	ATRX	OMIM:309580
HP:0025634	Abnormal ureter physiology	2625	GATA3	ORPHA:2237
HP:0025634	Abnormal ureter physiology	6389	SDHA	ORPHA:3208
HP:0025634	Abnormal ureter physiology	6390	SDHB	ORPHA:3208
HP:0025634	Abnormal ureter physiology	6392	SDHD	ORPHA:3208
HP:0025634	Abnormal ureter physiology	644096	SDHAF1	ORPHA:3208
HP:0025634	Abnormal ureter physiology	4052	LTBP1	ORPHA:90349
HP:0025634	Abnormal ureter physiology	30008	EFEMP2	ORPHA:90349
HP:0025634	Abnormal ureter physiology	10516	FBLN5	ORPHA:90349
HP:0025634	Abnormal ureter physiology	9939	RBM8A	OMIM:274000
HP:0025634	Abnormal ureter physiology	147372	CCBE1	OMIM:235510
HP:0025634	Abnormal ureter physiology	9276	COPB2	ORPHA:2512
HP:0025634	Abnormal ureter physiology	11113	CIT	ORPHA:2512
HP:0025634	Abnormal ureter physiology	9928	KIF14	ORPHA:2512
HP:0025634	Abnormal ureter physiology	22995	CEP152	ORPHA:2512
HP:0025634	Abnormal ureter physiology	284403	WDR62	ORPHA:2512
HP:0025634	Abnormal ureter physiology	55262	TRAPPC14	ORPHA:2512
HP:0025634	Abnormal ureter physiology	163786	SASS6	ORPHA:2512
HP:0025634	Abnormal ureter physiology	29920	PYCR2	ORPHA:2512
HP:0025634	Abnormal ureter physiology	84879	MFSD2A	ORPHA:2512
HP:0025634	Abnormal ureter physiology	4176	MCM7	ORPHA:2512
HP:0025634	Abnormal ureter physiology	80254	CEP63	ORPHA:2512
HP:0025634	Abnormal ureter physiology	29081	METTL5	ORPHA:2512
HP:0025634	Abnormal ureter physiology	79023	NUP37	ORPHA:2512
HP:0025634	Abnormal ureter physiology	23310	NCAPD3	ORPHA:2512
HP:0025634	Abnormal ureter physiology	6301	SARS1	ORPHA:2512
HP:0025634	Abnormal ureter physiology	55755	CDK5RAP2	ORPHA:2512
HP:0025634	Abnormal ureter physiology	79648	MCPH1	ORPHA:2512
HP:0025634	Abnormal ureter physiology	6491	STIL	ORPHA:2512
HP:0025634	Abnormal ureter physiology	23141	ANKLE2	ORPHA:2512
HP:0025634	Abnormal ureter physiology	259266	ASPM	ORPHA:2512
HP:0025634	Abnormal ureter physiology	7109	TRAPPC10	ORPHA:2512
HP:0025634	Abnormal ureter physiology	7453	WARS1	ORPHA:2512
HP:0025634	Abnormal ureter physiology	1911	PHC1	ORPHA:2512
HP:0025634	Abnormal ureter physiology	1062	CENPE	ORPHA:2512
HP:0025634	Abnormal ureter physiology	6884	TAF13	ORPHA:2512
HP:0025634	Abnormal ureter physiology	9662	CEP135	ORPHA:2512
HP:0025634	Abnormal ureter physiology	57082	KNL1	ORPHA:2512
HP:0025634	Abnormal ureter physiology	1021	CDK6	ORPHA:2512
HP:0025634	Abnormal ureter physiology	9203	ZMYM3	OMIM:301111
HP:0025634	Abnormal ureter physiology	171023	ASXL1	OMIM:605039
HP:0025634	Abnormal ureter physiology	8295	TRRAP	OMIM:618454
HP:0025634	Abnormal ureter physiology	7319	UBE2A	ORPHA:163956
HP:0025634	Abnormal ureter physiology	5908	RAP1B	OMIM:620654
HP:0025634	Abnormal ureter physiology	80000	GREB1L	OMIM:617805
HP:0025634	Abnormal ureter physiology	8085	KMT2D	OMIM:147920
HP:0025634	Abnormal ureter physiology	7403	KDM6A	OMIM:147920
HP:0025634	Abnormal ureter physiology	3909	LAMA3	ORPHA:79404
HP:0025634	Abnormal ureter physiology	3918	LAMC2	ORPHA:79404
HP:0025634	Abnormal ureter physiology	3914	LAMB3	ORPHA:79404
HP:0025634	Abnormal ureter physiology	538	ATP7A	OMIM:304150
HP:0025634	Abnormal ureter physiology	9380	GRHPR	ORPHA:93599
HP:0025634	Abnormal ureter physiology	55898	UNC45A	OMIM:619377
HP:0025634	Abnormal ureter physiology	64321	SOX17	OMIM:613674
HP:0025634	Abnormal ureter physiology	7750	ZMYM2	OMIM:619522
HP:0030935	Abnormal intestinal smooth muscle morphology	5428	POLG	ORPHA:298
HP:0030935	Abnormal intestinal smooth muscle morphology	1890	TYMP	ORPHA:298
HP:0030935	Abnormal intestinal smooth muscle morphology	3980	LIG3	ORPHA:298
HP:0030935	Abnormal intestinal smooth muscle morphology	50484	RRM2B	ORPHA:298
HP:0030939	Palpebral thickening	1806	DPYD	ORPHA:1675
HP:0030939	Palpebral thickening	84168	ANTXR1	OMIM:230740
HP:0030939	Palpebral thickening	673	BRAF	OMIM:115150
HP:0030939	Palpebral thickening	673	BRAF	OMIM:613707
HP:0030939	Palpebral thickening	673	BRAF	OMIM:613706
HP:0030939	Palpebral thickening	55617	TASP1	OMIM:618950
HP:0030939	Palpebral thickening	8260	NAA10	OMIM:300855
HP:0001872	Abnormality of thrombocytes	6335	SCN9A	ORPHA:90026
HP:0001872	Abnormality of thrombocytes	11280	SCN11A	ORPHA:90026
HP:0001872	Abnormality of thrombocytes	6336	SCN10A	ORPHA:90026
HP:0001872	Abnormality of thrombocytes	26191	PTPN22	ORPHA:397
HP:0001872	Abnormality of thrombocytes	3106	HLA-B	ORPHA:397
HP:0001872	Abnormality of thrombocytes	3123	HLA-DRB1	ORPHA:397
HP:0001872	Abnormality of thrombocytes	8974	P4HA2	ORPHA:397
HP:0001872	Abnormality of thrombocytes	10019	SH2B3	ORPHA:3318
HP:0001872	Abnormality of thrombocytes	811	CALR	ORPHA:3318
HP:0001872	Abnormality of thrombocytes	7157	TP53	ORPHA:3318
HP:0001872	Abnormality of thrombocytes	4352	MPL	ORPHA:3318
HP:0001872	Abnormality of thrombocytes	3717	JAK2	ORPHA:3318
HP:0001872	Abnormality of thrombocytes	54790	TET2	ORPHA:3318
HP:0001872	Abnormality of thrombocytes	114548	NLRP3	ORPHA:1451
HP:0001872	Abnormality of thrombocytes	83706	FERMT3	OMIM:612840
HP:0001872	Abnormality of thrombocytes	5167	ENPP1	ORPHA:758
HP:0001872	Abnormality of thrombocytes	368	ABCC6	ORPHA:758
HP:0001872	Abnormality of thrombocytes	23218	NBEAL2	ORPHA:721
HP:0001872	Abnormality of thrombocytes	1312	COMT	ORPHA:567
HP:0001872	Abnormality of thrombocytes	221037	JMJD1C	ORPHA:567
HP:0001872	Abnormality of thrombocytes	2812	GP1BB	ORPHA:567
HP:0001872	Abnormality of thrombocytes	6239	RREB1	ORPHA:567
HP:0001872	Abnormality of thrombocytes	6899	TBX1	ORPHA:567
HP:0001872	Abnormality of thrombocytes	7290	HIRA	ORPHA:567
HP:0001872	Abnormality of thrombocytes	9632	SEC24C	ORPHA:567
HP:0001872	Abnormality of thrombocytes	7353	UFD1	ORPHA:567
HP:0001872	Abnormality of thrombocytes	421	ARVCF	ORPHA:567
HP:0001872	Abnormality of thrombocytes	84876	ORAI1	ORPHA:3204
HP:0001872	Abnormality of thrombocytes	6786	STIM1	ORPHA:3204
HP:0001872	Abnormality of thrombocytes	201595	STT3B	OMIM:615597
HP:0001872	Abnormality of thrombocytes	201595	STT3B	ORPHA:370924
HP:0001872	Abnormality of thrombocytes	1736	DKC1	OMIM:305000
HP:0001872	Abnormality of thrombocytes	1736	DKC1	ORPHA:3322
HP:0001872	Abnormality of thrombocytes	1736	DKC1	ORPHA:1775
HP:0001872	Abnormality of thrombocytes	5604	MAP2K1	ORPHA:389
HP:0001872	Abnormality of thrombocytes	673	BRAF	ORPHA:389
HP:0001872	Abnormality of thrombocytes	114803	MYSM1	ORPHA:508542
HP:0001872	Abnormality of thrombocytes	114803	MYSM1	OMIM:618116
HP:0001872	Abnormality of thrombocytes	2175	FANCA	OMIM:227650
HP:0001872	Abnormality of thrombocytes	2175	FANCA	ORPHA:84
HP:0001872	Abnormality of thrombocytes	2120	ETV6	OMIM:616216
HP:0001872	Abnormality of thrombocytes	166378	AFG2A	OMIM:616577
HP:0001872	Abnormality of thrombocytes	166378	AFG2A	ORPHA:457351
HP:0001872	Abnormality of thrombocytes	5184	PEPD	OMIM:170100
HP:0001872	Abnormality of thrombocytes	65082	VPS33A	OMIM:617303
HP:0001872	Abnormality of thrombocytes	65082	VPS33A	ORPHA:505248
HP:0001872	Abnormality of thrombocytes	4790	NFKB1	OMIM:616576
HP:0001872	Abnormality of thrombocytes	8526	DGKE	OMIM:615008
HP:0001872	Abnormality of thrombocytes	2188	FANCF	OMIM:603467
HP:0001872	Abnormality of thrombocytes	2188	FANCF	ORPHA:84
HP:0001872	Abnormality of thrombocytes	8029	CUBN	ORPHA:35858
HP:0001872	Abnormality of thrombocytes	81693	AMN	ORPHA:35858
HP:0001872	Abnormality of thrombocytes	103	ADAR	OMIM:615010
HP:0001872	Abnormality of thrombocytes	6573	SLC19A1	OMIM:620603
HP:0001872	Abnormality of thrombocytes	5155	PDGFB	ORPHA:1980
HP:0001872	Abnormality of thrombocytes	9213	XPR1	ORPHA:1980
HP:0001872	Abnormality of thrombocytes	5159	PDGFRB	ORPHA:1980
HP:0001872	Abnormality of thrombocytes	57462	MYORG	ORPHA:1980
HP:0001872	Abnormality of thrombocytes	6575	SLC20A2	ORPHA:1980
HP:0001872	Abnormality of thrombocytes	58494	JAM2	ORPHA:1980
HP:0001872	Abnormality of thrombocytes	1716	DGUOK	OMIM:251880
HP:0001872	Abnormality of thrombocytes	7386	UQCRFS1	OMIM:618775
HP:0001872	Abnormality of thrombocytes	5442	POLRMT	OMIM:619743
HP:0001872	Abnormality of thrombocytes	80739	MPIG6B	OMIM:617441
HP:0001872	Abnormality of thrombocytes	56992	KIF15	OMIM:619981
HP:0001872	Abnormality of thrombocytes	56992	KIF15	ORPHA:261323
HP:0001872	Abnormality of thrombocytes	950	SCARB2	OMIM:254900
HP:0001872	Abnormality of thrombocytes	950	SCARB2	ORPHA:77259
HP:0001872	Abnormality of thrombocytes	3981	LIG4	ORPHA:235
HP:0001872	Abnormality of thrombocytes	3981	LIG4	OMIM:606593
HP:0001872	Abnormality of thrombocytes	54888	NSUN2	ORPHA:235
HP:0001872	Abnormality of thrombocytes	9056	SLC7A7	ORPHA:470
HP:0001872	Abnormality of thrombocytes	9056	SLC7A7	OMIM:222700
HP:0001872	Abnormality of thrombocytes	6772	STAT1	ORPHA:391487
HP:0001872	Abnormality of thrombocytes	3572	IL6ST	OMIM:619751
HP:0001872	Abnormality of thrombocytes	54914	FOCAD	OMIM:619991
HP:0001872	Abnormality of thrombocytes	57167	SALL4	OMIM:147750
HP:0001872	Abnormality of thrombocytes	57167	SALL4	ORPHA:2307
HP:0001872	Abnormality of thrombocytes	51284	TLR7	OMIM:301080
HP:0001872	Abnormality of thrombocytes	51284	TLR7	ORPHA:536
HP:0001872	Abnormality of thrombocytes	166785	MMAA	OMIM:251100
HP:0001872	Abnormality of thrombocytes	5896	RAG1	OMIM:603554
HP:0001872	Abnormality of thrombocytes	5896	RAG1	ORPHA:331206
HP:0001872	Abnormality of thrombocytes	5897	RAG2	OMIM:603554
HP:0001872	Abnormality of thrombocytes	5897	RAG2	ORPHA:331206
HP:0001872	Abnormality of thrombocytes	64421	DCLRE1C	OMIM:603554
HP:0001872	Abnormality of thrombocytes	5551	PRF1	OMIM:603553
HP:0001872	Abnormality of thrombocytes	5551	PRF1	ORPHA:540
HP:0001872	Abnormality of thrombocytes	5551	PRF1	ORPHA:88
HP:0001872	Abnormality of thrombocytes	8676	STX11	OMIM:603552
HP:0001872	Abnormality of thrombocytes	8676	STX11	ORPHA:540
HP:0001872	Abnormality of thrombocytes	11234	HPS5	OMIM:614074
HP:0001872	Abnormality of thrombocytes	57169	ZNFX1	OMIM:619644
HP:0001872	Abnormality of thrombocytes	150274	HSCB	OMIM:619523
HP:0001872	Abnormality of thrombocytes	11311	VPS45	OMIM:615285
HP:0001872	Abnormality of thrombocytes	50485	SMARCAL1	ORPHA:1830
HP:0001872	Abnormality of thrombocytes	50485	SMARCAL1	OMIM:242900
HP:0001872	Abnormality of thrombocytes	10020	GNE	OMIM:620757
HP:0001872	Abnormality of thrombocytes	2542	SLC37A4	OMIM:619525
HP:0001872	Abnormality of thrombocytes	7841	MOGS	ORPHA:79330
HP:0001872	Abnormality of thrombocytes	540	ATP7B	OMIM:277900
HP:0001872	Abnormality of thrombocytes	540	ATP7B	ORPHA:905
HP:0001872	Abnormality of thrombocytes	19	ABCA1	ORPHA:31150
HP:0001872	Abnormality of thrombocytes	9968	MED12	OMIM:301068
HP:0001872	Abnormality of thrombocytes	2189	FANCG	OMIM:614082
HP:0001872	Abnormality of thrombocytes	2189	FANCG	ORPHA:84
HP:0001872	Abnormality of thrombocytes	5692	PSMB4	OMIM:617591
HP:0001872	Abnormality of thrombocytes	6603	SMARCD2	OMIM:617475
HP:0001872	Abnormality of thrombocytes	25836	NIPBL	OMIM:122470
HP:0001872	Abnormality of thrombocytes	3930	LBR	OMIM:169400
HP:0001872	Abnormality of thrombocytes	79087	ALG12	ORPHA:79324
HP:0001872	Abnormality of thrombocytes	79053	ALG8	ORPHA:79325
HP:0001872	Abnormality of thrombocytes	79053	ALG8	OMIM:608104
HP:0001872	Abnormality of thrombocytes	51311	TLR8	OMIM:301078
HP:0001872	Abnormality of thrombocytes	6138	RPL15	ORPHA:124
HP:0001872	Abnormality of thrombocytes	6224	RPS20	ORPHA:124
HP:0001872	Abnormality of thrombocytes	6165	RPL35A	ORPHA:124
HP:0001872	Abnormality of thrombocytes	6132	RPL8	ORPHA:124
HP:0001872	Abnormality of thrombocytes	6223	RPS19	ORPHA:124
HP:0001872	Abnormality of thrombocytes	6223	RPS19	OMIM:105650
HP:0001872	Abnormality of thrombocytes	6232	RPS27	ORPHA:124
HP:0001872	Abnormality of thrombocytes	55027	HEATR3	ORPHA:124
HP:0001872	Abnormality of thrombocytes	55027	HEATR3	OMIM:620072
HP:0001872	Abnormality of thrombocytes	6160	RPL31	ORPHA:124
HP:0001872	Abnormality of thrombocytes	6201	RPS7	ORPHA:124
HP:0001872	Abnormality of thrombocytes	6155	RPL27	ORPHA:124
HP:0001872	Abnormality of thrombocytes	6234	RPS28	ORPHA:124
HP:0001872	Abnormality of thrombocytes	6135	RPL11	ORPHA:124
HP:0001872	Abnormality of thrombocytes	6229	RPS24	ORPHA:124
HP:0001872	Abnormality of thrombocytes	6125	RPL5	ORPHA:124
HP:0001872	Abnormality of thrombocytes	6204	RPS10	ORPHA:124
HP:0001872	Abnormality of thrombocytes	6133	RPL9	ORPHA:124
HP:0001872	Abnormality of thrombocytes	6231	RPS26	ORPHA:124
HP:0001872	Abnormality of thrombocytes	11224	RPL35	ORPHA:124
HP:0001872	Abnormality of thrombocytes	6218	RPS17	ORPHA:124
HP:0001872	Abnormality of thrombocytes	6154	RPL26	ORPHA:124
HP:0001872	Abnormality of thrombocytes	6210	RPS15A	ORPHA:124
HP:0001872	Abnormality of thrombocytes	90121	TSR2	ORPHA:124
HP:0001872	Abnormality of thrombocytes	6141	RPL18	ORPHA:124
HP:0001872	Abnormality of thrombocytes	6235	RPS29	ORPHA:124
HP:0001872	Abnormality of thrombocytes	51816	ADA2	ORPHA:124
HP:0001872	Abnormality of thrombocytes	2629	GBA1	ORPHA:77261
HP:0001872	Abnormality of thrombocytes	2629	GBA1	ORPHA:77260
HP:0001872	Abnormality of thrombocytes	2629	GBA1	ORPHA:77259
HP:0001872	Abnormality of thrombocytes	2629	GBA1	OMIM:230800
HP:0001872	Abnormality of thrombocytes	2629	GBA1	ORPHA:2072
HP:0001872	Abnormality of thrombocytes	2629	GBA1	OMIM:230900
HP:0001872	Abnormality of thrombocytes	2629	GBA1	OMIM:608013
HP:0001872	Abnormality of thrombocytes	2629	GBA1	OMIM:231000
HP:0001872	Abnormality of thrombocytes	2629	GBA1	ORPHA:85212
HP:0001872	Abnormality of thrombocytes	51645	PPIL1	OMIM:619301
HP:0001872	Abnormality of thrombocytes	51362	CDC40	OMIM:619302
HP:0001872	Abnormality of thrombocytes	81570	CLPB	OMIM:616271
HP:0001872	Abnormality of thrombocytes	10459	MAD2L2	OMIM:617243
HP:0001872	Abnormality of thrombocytes	10459	MAD2L2	ORPHA:84
HP:0001872	Abnormality of thrombocytes	335	APOA1	OMIM:620657
HP:0001872	Abnormality of thrombocytes	5908	RAP1B	OMIM:620654
HP:0001872	Abnormality of thrombocytes	6730	SRP68	OMIM:620534
HP:0001872	Abnormality of thrombocytes	2582	GALE	OMIM:620776
HP:0001872	Abnormality of thrombocytes	5277	PIGA	OMIM:301072
HP:0001872	Abnormality of thrombocytes	5277	PIGA	ORPHA:447
HP:0001872	Abnormality of thrombocytes	5277	PIGA	OMIM:300868
HP:0001872	Abnormality of thrombocytes	78987	CRELD1	OMIM:620771
HP:0001872	Abnormality of thrombocytes	4594	MMUT	ORPHA:79312
HP:0001872	Abnormality of thrombocytes	4594	MMUT	ORPHA:289916
HP:0001872	Abnormality of thrombocytes	4594	MMUT	OMIM:251000
HP:0001872	Abnormality of thrombocytes	2048	EPHB2	OMIM:618462
HP:0001872	Abnormality of thrombocytes	2187	FANCB	OMIM:300514
HP:0001872	Abnormality of thrombocytes	2187	FANCB	ORPHA:84
HP:0001872	Abnormality of thrombocytes	3659	IRF1	OMIM:620668
HP:0001872	Abnormality of thrombocytes	2653	GCSH	OMIM:620423
HP:0001872	Abnormality of thrombocytes	4179	CD46	OMIM:612922
HP:0001872	Abnormality of thrombocytes	4179	CD46	ORPHA:244242
HP:0001872	Abnormality of thrombocytes	6916	TBXAS1	OMIM:231095
HP:0001872	Abnormality of thrombocytes	629	CFB	OMIM:612924
HP:0001872	Abnormality of thrombocytes	3426	CFI	OMIM:612923
HP:0001872	Abnormality of thrombocytes	3426	CFI	ORPHA:244242
HP:0001872	Abnormality of thrombocytes	959	CD40LG	OMIM:308230
HP:0001872	Abnormality of thrombocytes	7056	THBD	OMIM:612926
HP:0001872	Abnormality of thrombocytes	718	C3	OMIM:612925
HP:0001872	Abnormality of thrombocytes	23451	SF3B1	ORPHA:75564
HP:0001872	Abnormality of thrombocytes	201294	UNC13D	ORPHA:540
HP:0001872	Abnormality of thrombocytes	6813	STXBP2	ORPHA:540
HP:0001872	Abnormality of thrombocytes	6813	STXBP2	OMIM:613101
HP:0001872	Abnormality of thrombocytes	6888	TALDO1	ORPHA:101028
HP:0001872	Abnormality of thrombocytes	6888	TALDO1	OMIM:606003
HP:0001872	Abnormality of thrombocytes	58484	NLRC4	OMIM:616050
HP:0001872	Abnormality of thrombocytes	29887	SNX10	OMIM:615085
HP:0001872	Abnormality of thrombocytes	11277	TREX1	OMIM:225750
HP:0001872	Abnormality of thrombocytes	11277	TREX1	ORPHA:536
HP:0001872	Abnormality of thrombocytes	11277	TREX1	OMIM:152700
HP:0001872	Abnormality of thrombocytes	23395	LARS2	OMIM:617021
HP:0001872	Abnormality of thrombocytes	6729	SRP54	OMIM:260400
HP:0001872	Abnormality of thrombocytes	51119	SBDS	OMIM:260400
HP:0001872	Abnormality of thrombocytes	51119	SBDS	ORPHA:811
HP:0001872	Abnormality of thrombocytes	51119	SBDS	ORPHA:88
HP:0001872	Abnormality of thrombocytes	134218	DNAJC21	OMIM:260400
HP:0001872	Abnormality of thrombocytes	134218	DNAJC21	OMIM:617052
HP:0001872	Abnormality of thrombocytes	134218	DNAJC21	ORPHA:811
HP:0001872	Abnormality of thrombocytes	5568	PRKACG	OMIM:616176
HP:0001872	Abnormality of thrombocytes	55215	FANCI	OMIM:609053
HP:0001872	Abnormality of thrombocytes	55215	FANCI	ORPHA:84
HP:0001872	Abnormality of thrombocytes	29927	SEC61A1	OMIM:620674
HP:0001872	Abnormality of thrombocytes	4952	OCRL	ORPHA:534
HP:0001872	Abnormality of thrombocytes	4068	SH2D1A	OMIM:308240
HP:0001872	Abnormality of thrombocytes	331	XIAP	OMIM:308240
HP:0001872	Abnormality of thrombocytes	2215	FCGR3B	ORPHA:536
HP:0001872	Abnormality of thrombocytes	6775	STAT4	ORPHA:536
HP:0001872	Abnormality of thrombocytes	6775	STAT4	ORPHA:93552
HP:0001872	Abnormality of thrombocytes	3684	ITGAM	ORPHA:536
HP:0001872	Abnormality of thrombocytes	3586	IL10	ORPHA:536
HP:0001872	Abnormality of thrombocytes	221895	JAZF1	ORPHA:536
HP:0001872	Abnormality of thrombocytes	7292	TNFSF4	ORPHA:536
HP:0001872	Abnormality of thrombocytes	640	BLK	ORPHA:536
HP:0001872	Abnormality of thrombocytes	720	C4A	ORPHA:536
HP:0001872	Abnormality of thrombocytes	55024	BANK1	ORPHA:536
HP:0001872	Abnormality of thrombocytes	3500	IGHG1	ORPHA:536
HP:0001872	Abnormality of thrombocytes	3654	IRAK1	ORPHA:536
HP:0001872	Abnormality of thrombocytes	3654	IRAK1	ORPHA:93552
HP:0001872	Abnormality of thrombocytes	1493	CTLA4	ORPHA:536
HP:0001872	Abnormality of thrombocytes	1493	CTLA4	OMIM:152700
HP:0001872	Abnormality of thrombocytes	1380	CR2	ORPHA:536
HP:0001872	Abnormality of thrombocytes	5133	PDCD1	ORPHA:536
HP:0001872	Abnormality of thrombocytes	2113	ETS1	ORPHA:536
HP:0001872	Abnormality of thrombocytes	2213	FCGR2B	ORPHA:536
HP:0001872	Abnormality of thrombocytes	2213	FCGR2B	OMIM:152700
HP:0001872	Abnormality of thrombocytes	10318	TNIP1	ORPHA:536
HP:0001872	Abnormality of thrombocytes	7332	UBE2L3	ORPHA:536
HP:0001872	Abnormality of thrombocytes	79932	KIAA0319L	ORPHA:536
HP:0001872	Abnormality of thrombocytes	4204	MECP2	ORPHA:536
HP:0001872	Abnormality of thrombocytes	3663	IRF5	ORPHA:536
HP:0001872	Abnormality of thrombocytes	721	C4B	ORPHA:536
HP:0001872	Abnormality of thrombocytes	1773	DNASE1	ORPHA:536
HP:0001872	Abnormality of thrombocytes	1773	DNASE1	OMIM:152700
HP:0001872	Abnormality of thrombocytes	6696	SPP1	ORPHA:536
HP:0001872	Abnormality of thrombocytes	6696	SPP1	ORPHA:93552
HP:0001872	Abnormality of thrombocytes	54899	PXK	ORPHA:536
HP:0001872	Abnormality of thrombocytes	7128	TNFAIP3	ORPHA:536
HP:0001872	Abnormality of thrombocytes	7128	TNFAIP3	OMIM:616744
HP:0001872	Abnormality of thrombocytes	427	ASAH1	ORPHA:333
HP:0001872	Abnormality of thrombocytes	537	ATP6AP1	OMIM:300972
HP:0001872	Abnormality of thrombocytes	7922	SLC39A7	OMIM:619693
HP:0001872	Abnormality of thrombocytes	50619	DEF6	OMIM:619573
HP:0001872	Abnormality of thrombocytes	8260	NAA10	OMIM:300855
HP:0001872	Abnormality of thrombocytes	3394	IRF8	OMIM:226990
HP:0001872	Abnormality of thrombocytes	11274	USP18	OMIM:617397
HP:0001872	Abnormality of thrombocytes	55750	AGK	OMIM:212350
HP:0001872	Abnormality of thrombocytes	4627	MYH9	OMIM:155100
HP:0001872	Abnormality of thrombocytes	26276	VPS33B	OMIM:208085
HP:0001872	Abnormality of thrombocytes	546	ATRX	ORPHA:231401
HP:0001872	Abnormality of thrombocytes	55340	GIMAP5	OMIM:619463
HP:0001872	Abnormality of thrombocytes	25939	SAMHD1	OMIM:612952
HP:0001872	Abnormality of thrombocytes	56244	BTNL2	ORPHA:797
HP:0001872	Abnormality of thrombocytes	5660	PSAP	OMIM:610539
HP:0001872	Abnormality of thrombocytes	54809	SAMD9	OMIM:617053
HP:0001872	Abnormality of thrombocytes	54809	SAMD9	OMIM:619041
HP:0001872	Abnormality of thrombocytes	55505	NOP10	OMIM:224230
HP:0001872	Abnormality of thrombocytes	55505	NOP10	ORPHA:1775
HP:0001872	Abnormality of thrombocytes	55651	NHP2	OMIM:224230
HP:0001872	Abnormality of thrombocytes	55651	NHP2	OMIM:613987
HP:0001872	Abnormality of thrombocytes	55651	NHP2	ORPHA:1775
HP:0001872	Abnormality of thrombocytes	8567	MADD	OMIM:619004
HP:0001872	Abnormality of thrombocytes	8567	MADD	OMIM:619005
HP:0001872	Abnormality of thrombocytes	29123	ANKRD11	ORPHA:261250
HP:0001872	Abnormality of thrombocytes	6948	TCN2	ORPHA:859
HP:0001872	Abnormality of thrombocytes	3516	RBPJ	ORPHA:974
HP:0001872	Abnormality of thrombocytes	4851	NOTCH1	ORPHA:974
HP:0001872	Abnormality of thrombocytes	57514	ARHGAP31	ORPHA:974
HP:0001872	Abnormality of thrombocytes	57572	DOCK6	ORPHA:974
HP:0001872	Abnormality of thrombocytes	285203	EOGT	ORPHA:974
HP:0001872	Abnormality of thrombocytes	54567	DLL4	ORPHA:974
HP:0001872	Abnormality of thrombocytes	199221	DZIP1L	ORPHA:731
HP:0001872	Abnormality of thrombocytes	5314	PKHD1	ORPHA:731
HP:0001872	Abnormality of thrombocytes	64376	IKZF5	OMIM:619130
HP:0001872	Abnormality of thrombocytes	2177	FANCD2	OMIM:227646
HP:0001872	Abnormality of thrombocytes	2177	FANCD2	ORPHA:84
HP:0001872	Abnormality of thrombocytes	2176	FANCC	OMIM:227645
HP:0001872	Abnormality of thrombocytes	2176	FANCC	ORPHA:84
HP:0001872	Abnormality of thrombocytes	7390	UROS	OMIM:263700
HP:0001872	Abnormality of thrombocytes	7390	UROS	ORPHA:79277
HP:0001872	Abnormality of thrombocytes	51371	POMP	OMIM:618048
HP:0001872	Abnormality of thrombocytes	5557	PRIM1	OMIM:620005
HP:0001872	Abnormality of thrombocytes	2624	GATA2	ORPHA:228423
HP:0001872	Abnormality of thrombocytes	4683	NBN	ORPHA:647
HP:0001872	Abnormality of thrombocytes	4683	NBN	OMIM:251260
HP:0001872	Abnormality of thrombocytes	25913	POT1	OMIM:620367
HP:0001872	Abnormality of thrombocytes	7171	TPM4	OMIM:620486
HP:0001872	Abnormality of thrombocytes	92345	NAF1	OMIM:620365
HP:0001872	Abnormality of thrombocytes	1719	DHFR	OMIM:613839
HP:0001872	Abnormality of thrombocytes	84153	RNASEH2C	OMIM:610329
HP:0001872	Abnormality of thrombocytes	5795	PTPRJ	OMIM:620484
HP:0001872	Abnormality of thrombocytes	5965	RECQL	OMIM:620370
HP:0001872	Abnormality of thrombocytes	613	BCR	ORPHA:521
HP:0001872	Abnormality of thrombocytes	25	ABL1	ORPHA:521
HP:0001872	Abnormality of thrombocytes	6774	STAT3	ORPHA:520
HP:0001872	Abnormality of thrombocytes	5371	PML	ORPHA:520
HP:0001872	Abnormality of thrombocytes	5914	RARA	ORPHA:520
HP:0001872	Abnormality of thrombocytes	359948	IRF2BP2	ORPHA:520
HP:0001872	Abnormality of thrombocytes	81608	FIP1L1	ORPHA:520
HP:0001872	Abnormality of thrombocytes	4869	NPM1	ORPHA:520
HP:0001872	Abnormality of thrombocytes	4869	NPM1	ORPHA:1775
HP:0001872	Abnormality of thrombocytes	5573	PRKAR1A	ORPHA:520
HP:0001872	Abnormality of thrombocytes	54880	BCOR	ORPHA:520
HP:0001872	Abnormality of thrombocytes	64859	NABP1	ORPHA:520
HP:0001872	Abnormality of thrombocytes	6777	STAT5B	ORPHA:520
HP:0001872	Abnormality of thrombocytes	4926	NUMA1	ORPHA:520
HP:0001872	Abnormality of thrombocytes	7704	ZBTB16	ORPHA:520
HP:0001872	Abnormality of thrombocytes	79718	TBL1XR1	ORPHA:520
HP:0001872	Abnormality of thrombocytes	10535	RNASEH2A	OMIM:610333
HP:0001872	Abnormality of thrombocytes	5696	PSMB8	OMIM:256040
HP:0001872	Abnormality of thrombocytes	54938	SARS2	OMIM:613845
HP:0001872	Abnormality of thrombocytes	4067	LYN	OMIM:620376
HP:0001872	Abnormality of thrombocytes	4613	MYCN	ORPHA:635
HP:0001872	Abnormality of thrombocytes	238	ALK	ORPHA:635
HP:0001872	Abnormality of thrombocytes	389421	LIN28B	ORPHA:635
HP:0001872	Abnormality of thrombocytes	4004	LMO1	ORPHA:635
HP:0001872	Abnormality of thrombocytes	57531	HACE1	ORPHA:635
HP:0001872	Abnormality of thrombocytes	8929	PHOX2B	ORPHA:635
HP:0001872	Abnormality of thrombocytes	128	ADH5	OMIM:619151
HP:0001872	Abnormality of thrombocytes	171023	ASXL1	ORPHA:98850
HP:0001872	Abnormality of thrombocytes	171023	ASXL1	ORPHA:98849
HP:0001872	Abnormality of thrombocytes	6427	SRSF2	ORPHA:98850
HP:0001872	Abnormality of thrombocytes	6427	SRSF2	ORPHA:98849
HP:0001872	Abnormality of thrombocytes	10312	TCIRG1	OMIM:259700
HP:0001872	Abnormality of thrombocytes	10312	TCIRG1	ORPHA:210110
HP:0001872	Abnormality of thrombocytes	3815	KIT	ORPHA:98849
HP:0001872	Abnormality of thrombocytes	987	LRBA	OMIM:614700
HP:0001872	Abnormality of thrombocytes	10667	FARS2	OMIM:614946
HP:0001872	Abnormality of thrombocytes	843	CASP10	OMIM:603909
HP:0001872	Abnormality of thrombocytes	55788	LMBRD1	OMIM:277380
HP:0001872	Abnormality of thrombocytes	3141	HLCS	OMIM:253270
HP:0001872	Abnormality of thrombocytes	3141	HLCS	ORPHA:79242
HP:0001872	Abnormality of thrombocytes	7015	TERT	OMIM:613989
HP:0001872	Abnormality of thrombocytes	7015	TERT	ORPHA:88
HP:0001872	Abnormality of thrombocytes	7015	TERT	ORPHA:3322
HP:0001872	Abnormality of thrombocytes	7015	TERT	OMIM:127550
HP:0001872	Abnormality of thrombocytes	7015	TERT	ORPHA:1775
HP:0001872	Abnormality of thrombocytes	9382	COG1	OMIM:611209
HP:0001872	Abnormality of thrombocytes	79631	EFL1	ORPHA:811
HP:0001872	Abnormality of thrombocytes	79631	EFL1	OMIM:617941
HP:0001872	Abnormality of thrombocytes	2533	FYB1	OMIM:273900
HP:0001872	Abnormality of thrombocytes	25839	COG4	ORPHA:263501
HP:0001872	Abnormality of thrombocytes	3735	KARS1	ORPHA:3240
HP:0001872	Abnormality of thrombocytes	3458	IFNG	ORPHA:88
HP:0001872	Abnormality of thrombocytes	7012	TERC	ORPHA:88
HP:0001872	Abnormality of thrombocytes	7012	TERC	OMIM:127550
HP:0001872	Abnormality of thrombocytes	7012	TERC	ORPHA:1775
HP:0001872	Abnormality of thrombocytes	9630	GNA14	ORPHA:1063
HP:0001872	Abnormality of thrombocytes	26277	TINF2	OMIM:613990
HP:0001872	Abnormality of thrombocytes	26277	TINF2	ORPHA:3322
HP:0001872	Abnormality of thrombocytes	26277	TINF2	OMIM:127550
HP:0001872	Abnormality of thrombocytes	26277	TINF2	ORPHA:1775
HP:0001872	Abnormality of thrombocytes	348	APOE	OMIM:269600
HP:0001872	Abnormality of thrombocytes	348	APOE	ORPHA:158029
HP:0001872	Abnormality of thrombocytes	3988	LIPA	OMIM:278000
HP:0001872	Abnormality of thrombocytes	92579	G6PC3	OMIM:612541
HP:0001872	Abnormality of thrombocytes	55858	TMEM165	OMIM:614727
HP:0001872	Abnormality of thrombocytes	9103	FCGR2C	ORPHA:3002
HP:0001872	Abnormality of thrombocytes	672	BRCA1	ORPHA:84
HP:0001872	Abnormality of thrombocytes	7516	XRCC2	ORPHA:84
HP:0001872	Abnormality of thrombocytes	29089	UBE2T	ORPHA:84
HP:0001872	Abnormality of thrombocytes	29089	UBE2T	OMIM:616435
HP:0001872	Abnormality of thrombocytes	675	BRCA2	ORPHA:84
HP:0001872	Abnormality of thrombocytes	55120	FANCL	ORPHA:84
HP:0001872	Abnormality of thrombocytes	2178	FANCE	ORPHA:84
HP:0001872	Abnormality of thrombocytes	2178	FANCE	OMIM:600901
HP:0001872	Abnormality of thrombocytes	5888	RAD51	ORPHA:84
HP:0001872	Abnormality of thrombocytes	5889	RAD51C	ORPHA:84
HP:0001872	Abnormality of thrombocytes	55159	RFWD3	ORPHA:84
HP:0001872	Abnormality of thrombocytes	83990	BRIP1	ORPHA:84
HP:0001872	Abnormality of thrombocytes	57697	FANCM	ORPHA:84
HP:0001872	Abnormality of thrombocytes	79728	PALB2	ORPHA:84
HP:0001872	Abnormality of thrombocytes	84464	SLX4	ORPHA:84
HP:0001872	Abnormality of thrombocytes	2072	ERCC4	ORPHA:84
HP:0001872	Abnormality of thrombocytes	8546	AP3B1	OMIM:608233
HP:0001872	Abnormality of thrombocytes	5095	PCCA	OMIM:606054
HP:0001872	Abnormality of thrombocytes	5096	PCCB	OMIM:606054
HP:0001872	Abnormality of thrombocytes	7466	WFS1	OMIM:222300
HP:0001872	Abnormality of thrombocytes	5328	PLAU	OMIM:601709
HP:0001872	Abnormality of thrombocytes	10352	WARS2	ORPHA:572798
HP:0001872	Abnormality of thrombocytes	10352	WARS2	OMIM:617710
HP:0001872	Abnormality of thrombocytes	342618	SLFN14	OMIM:616913
HP:0001872	Abnormality of thrombocytes	4598	MVK	OMIM:610377
HP:0001872	Abnormality of thrombocytes	113235	SLC46A1	OMIM:229050
HP:0001872	Abnormality of thrombocytes	113235	SLC46A1	ORPHA:90045
HP:0001872	Abnormality of thrombocytes	28976	ACAD9	ORPHA:99901
HP:0001872	Abnormality of thrombocytes	28976	ACAD9	OMIM:611126
HP:0001872	Abnormality of thrombocytes	5826	ABCD4	OMIM:614857
HP:0001872	Abnormality of thrombocytes	2321	FLT1	ORPHA:275555
HP:0001872	Abnormality of thrombocytes	219736	STOX1	ORPHA:275555
HP:0001872	Abnormality of thrombocytes	10699	CORIN	ORPHA:275555
HP:0001872	Abnormality of thrombocytes	375748	ERCC6L2	OMIM:615715
HP:0001872	Abnormality of thrombocytes	157570	ESCO2	ORPHA:3103
HP:0001872	Abnormality of thrombocytes	55719	SLF2	OMIM:620184
HP:0001872	Abnormality of thrombocytes	23137	SMC5	OMIM:620185
HP:0001872	Abnormality of thrombocytes	26227	PHGDH	OMIM:601815
HP:0001872	Abnormality of thrombocytes	64135	IFIH1	OMIM:615846
HP:0001872	Abnormality of thrombocytes	6714	SRC	OMIM:616937
HP:0001872	Abnormality of thrombocytes	695	BTK	ORPHA:47
HP:0001872	Abnormality of thrombocytes	4846	NOS3	OMIM:189800
HP:0001872	Abnormality of thrombocytes	1186	CLCN7	OMIM:611490
HP:0001872	Abnormality of thrombocytes	1186	CLCN7	ORPHA:53
HP:0001872	Abnormality of thrombocytes	1186	CLCN7	ORPHA:210110
HP:0001872	Abnormality of thrombocytes	9939	RBM8A	ORPHA:3320
HP:0001872	Abnormality of thrombocytes	9939	RBM8A	OMIM:274000
HP:0001872	Abnormality of thrombocytes	51750	RTEL1	ORPHA:3322
HP:0001872	Abnormality of thrombocytes	51750	RTEL1	ORPHA:1775
HP:0001872	Abnormality of thrombocytes	65057	ACD	ORPHA:3322
HP:0001872	Abnormality of thrombocytes	5073	PARN	ORPHA:3322
HP:0001872	Abnormality of thrombocytes	5073	PARN	ORPHA:1775
HP:0001872	Abnormality of thrombocytes	28962	OSTM1	OMIM:259720
HP:0001872	Abnormality of thrombocytes	51095	TRNT1	OMIM:616959
HP:0001872	Abnormality of thrombocytes	10878	CFHR3	OMIM:235400
HP:0001872	Abnormality of thrombocytes	3075	CFH	OMIM:235400
HP:0001872	Abnormality of thrombocytes	3075	CFH	ORPHA:244242
HP:0001872	Abnormality of thrombocytes	3078	CFHR1	OMIM:235400
HP:0001872	Abnormality of thrombocytes	8600	TNFSF11	OMIM:259710
HP:0001872	Abnormality of thrombocytes	3932	LCK	OMIM:615758
HP:0001872	Abnormality of thrombocytes	6303	SAT1	ORPHA:93552
HP:0001872	Abnormality of thrombocytes	6261	RYR1	ORPHA:466650
HP:0001872	Abnormality of thrombocytes	50943	FOXP3	OMIM:304790
HP:0001872	Abnormality of thrombocytes	55593	OTUD5	OMIM:301056
HP:0001872	Abnormality of thrombocytes	7317	UBA1	OMIM:301054
HP:0001872	Abnormality of thrombocytes	948	CD36	OMIM:608404
HP:0001872	Abnormality of thrombocytes	998	CDC42	OMIM:616737
HP:0001872	Abnormality of thrombocytes	998	CDC42	ORPHA:487796
HP:0001872	Abnormality of thrombocytes	10560	SLC19A2	ORPHA:49827
HP:0001872	Abnormality of thrombocytes	10560	SLC19A2	OMIM:249270
HP:0001872	Abnormality of thrombocytes	11093	ADAMTS13	OMIM:274150
HP:0001872	Abnormality of thrombocytes	1287	COL4A5	OMIM:301050
HP:0001872	Abnormality of thrombocytes	2122	MECOM	OMIM:616738
HP:0001872	Abnormality of thrombocytes	1991	ELANE	ORPHA:2686
HP:0001872	Abnormality of thrombocytes	79840	NHEJ1	ORPHA:169079
HP:0001872	Abnormality of thrombocytes	10320	IKZF1	ORPHA:36426
HP:0001872	Abnormality of thrombocytes	6609	SMPD1	ORPHA:77293
HP:0001872	Abnormality of thrombocytes	6609	SMPD1	OMIM:607616
HP:0001872	Abnormality of thrombocytes	10095	ARPC1B	OMIM:617718
HP:0001872	Abnormality of thrombocytes	3431	SP110	ORPHA:79124
HP:0001872	Abnormality of thrombocytes	3712	IVD	OMIM:243500
HP:0001872	Abnormality of thrombocytes	8985	PLOD3	OMIM:612394
HP:0001872	Abnormality of thrombocytes	57511	COG6	OMIM:614576
HP:0001872	Abnormality of thrombocytes	2475	MTOR	OMIM:616638
HP:0001872	Abnormality of thrombocytes	326625	MMAB	OMIM:251110
HP:0001872	Abnormality of thrombocytes	760	CA2	ORPHA:2785
HP:0001872	Abnormality of thrombocytes	9842	PLEKHM1	ORPHA:210110
HP:0001872	Abnormality of thrombocytes	3702	ITK	OMIM:613011
HP:0001872	Abnormality of thrombocytes	2065	ERBB3	OMIM:133180
HP:0001872	Abnormality of thrombocytes	2316	FLNA	OMIM:300048
HP:0001872	Abnormality of thrombocytes	101101692	HELLPAR	ORPHA:244242
HP:0001872	Abnormality of thrombocytes	100506658	OCLN	OMIM:251290
HP:0001872	Abnormality of thrombocytes	5294	PIK3CG	OMIM:619802
HP:0001872	Abnormality of thrombocytes	25974	MMACHC	ORPHA:79282
HP:0001872	Abnormality of thrombocytes	25974	MMACHC	OMIM:277400
HP:0001872	Abnormality of thrombocytes	29071	C1GALT1C1	OMIM:301110
HP:0001872	Abnormality of thrombocytes	80169	CTC1	OMIM:612199
HP:0001872	Abnormality of thrombocytes	80169	CTC1	ORPHA:1775
HP:0001872	Abnormality of thrombocytes	79650	USB1	ORPHA:1775
HP:0001872	Abnormality of thrombocytes	55135	WRAP53	ORPHA:1775
HP:0001872	Abnormality of thrombocytes	7298	TYMS	ORPHA:1775
HP:0001872	Abnormality of thrombocytes	2212	FCGR2A	OMIM:152700
HP:0001872	Abnormality of thrombocytes	1794	DOCK2	OMIM:616433
HP:0001872	Abnormality of thrombocytes	5052	PRDX1	OMIM:277400
HP:0001872	Abnormality of thrombocytes	8328	GFI1B	OMIM:187900
HP:0001872	Abnormality of thrombocytes	435	ASL	ORPHA:23
HP:0001872	Abnormality of thrombocytes	3043	HBB	ORPHA:232
HP:0001872	Abnormality of thrombocytes	9051	PSTPIP1	OMIM:604416
HP:0001872	Abnormality of thrombocytes	3155	HMGCL	ORPHA:20
HP:0001872	Abnormality of thrombocytes	57217	TTC7A	OMIM:243150
HP:0001872	Abnormality of thrombocytes	3783	KCNN4	OMIM:616689
HP:0001872	Abnormality of thrombocytes	526	ATP6V1B2	ORPHA:79500
HP:0001872	Abnormality of thrombocytes	57465	TBC1D24	ORPHA:79500
HP:0001872	Abnormality of thrombocytes	5293	PIK3CD	OMIM:619281
HP:0001872	Abnormality of thrombocytes	4522	MTHFD1	OMIM:617780
HP:0001872	Abnormality of thrombocytes	144811	LACC1	OMIM:618795
HP:0001872	Abnormality of thrombocytes	4141	MARS1	OMIM:615486
HP:0001872	Abnormality of thrombocytes	3162	HMOX1	OMIM:614034
HP:0001872	Abnormality of thrombocytes	3459	IFNGR1	OMIM:209950
HP:0001872	Abnormality of thrombocytes	3921	RPSA	OMIM:271400
HP:0001872	Abnormality of thrombocytes	38	ACAT1	ORPHA:134
HP:0001872	Abnormality of thrombocytes	5966	REL	OMIM:619652
HP:0001872	Abnormality of thrombocytes	9652	SKIC3	OMIM:222470
HP:0001872	Abnormality of thrombocytes	9652	SKIC3	ORPHA:84064
HP:0001872	Abnormality of thrombocytes	6208	RPS14	ORPHA:86841
HP:0001872	Abnormality of thrombocytes	340061	STING1	OMIM:615934
HP:0001872	Abnormality of thrombocytes	3117	HLA-DQA1	OMIM:212750
HP:0001872	Abnormality of thrombocytes	3119	HLA-DQB1	OMIM:212750
HP:0001872	Abnormality of thrombocytes	29110	TBK1	OMIM:620880
HP:0001872	Abnormality of thrombocytes	2000	ELF4	OMIM:301074
HP:0001872	Abnormality of thrombocytes	1604	CD55	OMIM:226300
HP:0001872	Abnormality of thrombocytes	7040	TGFB1	OMIM:618213
HP:0001872	Abnormality of thrombocytes	6499	SKIC2	ORPHA:84064
HP:0001872	Abnormality of thrombocytes	5373	PMM2	OMIM:212065
HP:0001872	Abnormality of thrombocytes	6773	STAT2	OMIM:618886
HP:0001872	Abnormality of thrombocytes	3207	HOXA11	OMIM:605432
HP:0001872	Abnormality of thrombocytes	355	FAS	ORPHA:3261
HP:0001872	Abnormality of thrombocytes	355	FAS	OMIM:601859
HP:0001872	Abnormality of thrombocytes	356	FASLG	ORPHA:3261
HP:0001872	Abnormality of thrombocytes	356	FASLG	OMIM:601859
HP:0001872	Abnormality of thrombocytes	4791	NFKB2	ORPHA:293978
HP:0001872	Abnormality of thrombocytes	4791	NFKB2	ORPHA:1572
HP:0001872	Abnormality of thrombocytes	975	CD81	OMIM:613496
HP:0001872	Abnormality of thrombocytes	975	CD81	ORPHA:1572
HP:0001872	Abnormality of thrombocytes	4860	PNP	OMIM:613179
HP:0001872	Abnormality of thrombocytes	4860	PNP	ORPHA:760
HP:0001872	Abnormality of thrombocytes	5580	PRKCD	OMIM:615559
HP:0001872	Abnormality of thrombocytes	54440	SASH3	OMIM:301082
HP:0001872	Abnormality of thrombocytes	7174	TPP2	ORPHA:444463
HP:0001872	Abnormality of thrombocytes	7174	TPP2	OMIM:619220
HP:0001872	Abnormality of thrombocytes	3575	IL7R	ORPHA:169154
HP:0001872	Abnormality of thrombocytes	56259	CTNNBL1	OMIM:619846
HP:0001872	Abnormality of thrombocytes	5994	RFXAP	ORPHA:572
HP:0001872	Abnormality of thrombocytes	4261	CIITA	ORPHA:572
HP:0001872	Abnormality of thrombocytes	5993	RFX5	ORPHA:572
HP:0001872	Abnormality of thrombocytes	8625	RFXANK	ORPHA:572
HP:0001872	Abnormality of thrombocytes	54	ACP5	OMIM:607944
HP:0001872	Abnormality of thrombocytes	54	ACP5	ORPHA:1855
HP:0001872	Abnormality of thrombocytes	139818	DOCK11	OMIM:301109
HP:0001872	Abnormality of thrombocytes	84061	MAGT1	OMIM:300853
HP:0001872	Abnormality of thrombocytes	8651	SOCS1	OMIM:619375
HP:0001872	Abnormality of thrombocytes	27040	LAT	OMIM:617514
HP:0001872	Abnormality of thrombocytes	100	ADA	OMIM:102700
HP:0001872	Abnormality of thrombocytes	10092	ARPC5	OMIM:620565
HP:0001872	Abnormality of thrombocytes	2581	GALC	OMIM:245200
HP:0001872	Abnormality of thrombocytes	10125	RASGRP1	OMIM:618534
HP:0001872	Abnormality of thrombocytes	23495	TNFRSF13B	ORPHA:1572
HP:0001872	Abnormality of thrombocytes	115650	TNFRSF13C	ORPHA:1572
HP:0001872	Abnormality of thrombocytes	8742	TNFSF12	ORPHA:1572
HP:0001872	Abnormality of thrombocytes	930	CD19	ORPHA:1572
HP:0001872	Abnormality of thrombocytes	29851	ICOS	ORPHA:1572
HP:0001872	Abnormality of thrombocytes	931	MS4A1	ORPHA:1572
HP:0001872	Abnormality of thrombocytes	9138	ARHGEF1	OMIM:618459
HP:0001872	Abnormality of thrombocytes	7535	ZAP70	ORPHA:911
HP:0001872	Abnormality of thrombocytes	8085	KMT2D	OMIM:147920
HP:0001872	Abnormality of thrombocytes	7403	KDM6A	OMIM:147920
HP:0001872	Abnormality of thrombocytes	4247	MGAT2	ORPHA:79329
HP:0001872	Abnormality of thrombocytes	7450	VWF	OMIM:193400
HP:0001872	Abnormality of thrombocytes	7450	VWF	OMIM:277480
HP:0001872	Abnormality of thrombocytes	84343	HPS3	OMIM:614072
HP:0001872	Abnormality of thrombocytes	388552	BLOC1S3	OMIM:614077
HP:0001872	Abnormality of thrombocytes	5321	PLA2G4A	OMIM:618372
HP:0001872	Abnormality of thrombocytes	3758	KCNJ1	OMIM:241200
HP:0001872	Abnormality of thrombocytes	2313	FLI1	OMIM:617443
HP:0001872	Abnormality of thrombocytes	84062	DTNBP1	OMIM:614076
HP:0001872	Abnormality of thrombocytes	81027	TUBB1	OMIM:613112
HP:0001872	Abnormality of thrombocytes	1729	DIAPH1	OMIM:124900
HP:0001872	Abnormality of thrombocytes	64241	ABCG8	OMIM:210250
HP:0001872	Abnormality of thrombocytes	79621	RNASEH2B	ORPHA:51
HP:0001872	Abnormality of thrombocytes	100147744	RNU7-1	ORPHA:51
HP:0001872	Abnormality of thrombocytes	134353	LSM11	ORPHA:51
HP:0001872	Abnormality of thrombocytes	3673	ITGA2	ORPHA:853
HP:0001872	Abnormality of thrombocytes	135228	CD109	ORPHA:853
HP:0001872	Abnormality of thrombocytes	9948	WDR1	OMIM:150550
HP:0001872	Abnormality of thrombocytes	7037	TFRC	OMIM:616740
HP:0001872	Abnormality of thrombocytes	79803	HPS6	OMIM:614075
HP:0001872	Abnormality of thrombocytes	10235	RASGRP2	OMIM:615888
HP:0001872	Abnormality of thrombocytes	64805	P2RY12	OMIM:609821
HP:0001872	Abnormality of thrombocytes	63915	BLOC1S5	OMIM:619172
HP:0001872	Abnormality of thrombocytes	493856	CISD2	OMIM:604928
HP:0001872	Abnormality of thrombocytes	3937	LCP2	OMIM:619374
HP:0001872	Abnormality of thrombocytes	1130	LYST	ORPHA:167
HP:0001872	Abnormality of thrombocytes	2623	GATA1	ORPHA:231393
HP:0001872	Abnormality of thrombocytes	7454	WAS	ORPHA:906
HP:0001872	Abnormality of thrombocytes	7456	WIPF1	ORPHA:906
HP:0001872	Abnormality of thrombocytes	22800	RRAS2	ORPHA:648
HP:0001872	Abnormality of thrombocytes	867	CBL	ORPHA:648
HP:0001872	Abnormality of thrombocytes	8216	LZTR1	ORPHA:648
HP:0001872	Abnormality of thrombocytes	6016	RIT1	ORPHA:648
HP:0001872	Abnormality of thrombocytes	6237	RRAS	ORPHA:648
HP:0001872	Abnormality of thrombocytes	5894	RAF1	ORPHA:648
HP:0001872	Abnormality of thrombocytes	22808	MRAS	ORPHA:648
HP:0001872	Abnormality of thrombocytes	3845	KRAS	ORPHA:648
HP:0001872	Abnormality of thrombocytes	200734	SPRED2	ORPHA:648
HP:0001872	Abnormality of thrombocytes	4893	NRAS	ORPHA:648
HP:0001872	Abnormality of thrombocytes	6654	SOS1	ORPHA:648
HP:0001872	Abnormality of thrombocytes	6655	SOS2	ORPHA:648
HP:0001872	Abnormality of thrombocytes	5781	PTPN11	ORPHA:648
HP:0001872	Abnormality of thrombocytes	5922	RASA2	ORPHA:648
HP:0001872	Abnormality of thrombocytes	219285	SAMD9L	ORPHA:2585
HP:0001872	Abnormality of thrombocytes	2778	GNAS	ORPHA:79443
HP:0001872	Abnormality of thrombocytes	51206	GP6	OMIM:614201
HP:0001872	Abnormality of thrombocytes	7058	THBS2	OMIM:620865
HP:0001872	Abnormality of thrombocytes	6915	TBXA2R	OMIM:614009
HP:0001872	Abnormality of thrombocytes	2038	EPB42	OMIM:612690
HP:0001872	Abnormality of thrombocytes	6309	SC5D	ORPHA:46059
HP:0001872	Abnormality of thrombocytes	54205	CYCS	OMIM:612004
HP:0001872	Abnormality of thrombocytes	22852	ANKRD26	OMIM:188000
HP:0001872	Abnormality of thrombocytes	2811	GP1BA	ORPHA:274
HP:0001872	Abnormality of thrombocytes	2815	GP9	ORPHA:274
HP:0001872	Abnormality of thrombocytes	10559	SLC35A1	ORPHA:238459
HP:0001872	Abnormality of thrombocytes	861	RUNX1	OMIM:601399
HP:0001872	Abnormality of thrombocytes	7066	THPO	OMIM:620478
HP:0001872	Abnormality of thrombocytes	26258	BLOC1S6	OMIM:614171
HP:0001872	Abnormality of thrombocytes	2982	GUCY1A1	ORPHA:401945
HP:0001872	Abnormality of thrombocytes	3674	ITGA2B	OMIM:273800
HP:0001872	Abnormality of thrombocytes	3690	ITGB3	OMIM:619267
HP:0001872	Abnormality of thrombocytes	87	ACTN1	OMIM:615193
HP:0001872	Abnormality of thrombocytes	60	ACTB	OMIM:620475
HP:0001872	Abnormality of thrombocytes	89781	HPS4	OMIM:614073
HP:0001872	Abnormality of thrombocytes	51807	TUBA8	OMIM:619840
HP:0001872	Abnormality of thrombocytes	64240	ABCG5	ORPHA:2882
HP:0004808	Acute myeloid leukemia	2672	GFI1	OMIM:607847
HP:0004808	Acute myeloid leukemia	2672	GFI1	ORPHA:486
HP:0004808	Acute myeloid leukemia	675	BRCA2	OMIM:605724
HP:0004808	Acute myeloid leukemia	675	BRCA2	OMIM:613029
HP:0004808	Acute myeloid leukemia	128	ADH5	OMIM:619151
HP:0004808	Acute myeloid leukemia	4352	MPL	ORPHA:71493
HP:0004808	Acute myeloid leukemia	7066	THPO	ORPHA:71493
HP:0004808	Acute myeloid leukemia	3717	JAK2	ORPHA:71493
HP:0004808	Acute myeloid leukemia	3717	JAK2	OMIM:601626
HP:0004808	Acute myeloid leukemia	26511	CHIC2	OMIM:601626
HP:0004808	Acute myeloid leukemia	4026	LPP	OMIM:601626
HP:0004808	Acute myeloid leukemia	8021	NUP214	OMIM:601626
HP:0004808	Acute myeloid leukemia	3845	KRAS	OMIM:601626
HP:0004808	Acute myeloid leukemia	2624	GATA2	OMIM:601626
HP:0004808	Acute myeloid leukemia	2624	GATA2	OMIM:614038
HP:0004808	Acute myeloid leukemia	3815	KIT	OMIM:601626
HP:0004808	Acute myeloid leukemia	3815	KIT	ORPHA:98849
HP:0004808	Acute myeloid leukemia	8301	PICALM	OMIM:601626
HP:0004808	Acute myeloid leukemia	1788	DNMT3A	OMIM:601626
HP:0004808	Acute myeloid leukemia	7015	TERT	OMIM:601626
HP:0004808	Acute myeloid leukemia	8028	MLLT10	OMIM:601626
HP:0004808	Acute myeloid leukemia	861	RUNX1	OMIM:601626
HP:0004808	Acute myeloid leukemia	861	RUNX1	OMIM:601399
HP:0004808	Acute myeloid leukemia	2322	FLT3	OMIM:601626
HP:0004808	Acute myeloid leukemia	1050	CEBPA	OMIM:601626
HP:0004808	Acute myeloid leukemia	2120	ETV6	OMIM:601626
HP:0004808	Acute myeloid leukemia	6455	SH3GL1	OMIM:601626
HP:0004808	Acute myeloid leukemia	4869	NPM1	OMIM:601626
HP:0004808	Acute myeloid leukemia	134218	DNAJC21	OMIM:617052
HP:0004808	Acute myeloid leukemia	134218	DNAJC21	OMIM:260400
HP:0004808	Acute myeloid leukemia	134218	DNAJC21	ORPHA:811
HP:0004808	Acute myeloid leukemia	6208	RPS14	ORPHA:86841
HP:0004808	Acute myeloid leukemia	8930	MBD4	OMIM:619975
HP:0004808	Acute myeloid leukemia	219285	SAMD9L	OMIM:252270
HP:0004808	Acute myeloid leukemia	171023	ASXL1	ORPHA:98849
HP:0004808	Acute myeloid leukemia	54790	TET2	ORPHA:98849
HP:0004808	Acute myeloid leukemia	54790	TET2	ORPHA:75564
HP:0004808	Acute myeloid leukemia	6427	SRSF2	ORPHA:98849
HP:0004808	Acute myeloid leukemia	4210	MEFV	ORPHA:3243
HP:0004808	Acute myeloid leukemia	5777	PTPN6	ORPHA:3243
HP:0004808	Acute myeloid leukemia	1736	DKC1	OMIM:305000
HP:0004808	Acute myeloid leukemia	2065	ERBB3	OMIM:133180
HP:0004808	Acute myeloid leukemia	23451	SF3B1	ORPHA:75564
HP:0004808	Acute myeloid leukemia	7157	TP53	ORPHA:524
HP:0004808	Acute myeloid leukemia	1029	CDKN2A	ORPHA:524
HP:0004808	Acute myeloid leukemia	4193	MDM2	ORPHA:524
HP:0004808	Acute myeloid leukemia	11200	CHEK2	ORPHA:524
HP:0004808	Acute myeloid leukemia	10312	TCIRG1	ORPHA:486
HP:0004808	Acute myeloid leukemia	6728	SRP19	ORPHA:486
HP:0004808	Acute myeloid leukemia	1991	ELANE	ORPHA:486
HP:0004808	Acute myeloid leukemia	81570	CLPB	ORPHA:486
HP:0004808	Acute myeloid leukemia	641	BLM	ORPHA:125
HP:0004808	Acute myeloid leukemia	54809	SAMD9	OMIM:619041
HP:0004808	Acute myeloid leukemia	6138	RPL15	ORPHA:124
HP:0004808	Acute myeloid leukemia	6224	RPS20	ORPHA:124
HP:0004808	Acute myeloid leukemia	6165	RPL35A	ORPHA:124
HP:0004808	Acute myeloid leukemia	6132	RPL8	ORPHA:124
HP:0004808	Acute myeloid leukemia	6223	RPS19	ORPHA:124
HP:0004808	Acute myeloid leukemia	6232	RPS27	ORPHA:124
HP:0004808	Acute myeloid leukemia	55027	HEATR3	ORPHA:124
HP:0004808	Acute myeloid leukemia	6160	RPL31	ORPHA:124
HP:0004808	Acute myeloid leukemia	6201	RPS7	ORPHA:124
HP:0004808	Acute myeloid leukemia	6155	RPL27	ORPHA:124
HP:0004808	Acute myeloid leukemia	6234	RPS28	ORPHA:124
HP:0004808	Acute myeloid leukemia	6135	RPL11	ORPHA:124
HP:0004808	Acute myeloid leukemia	6229	RPS24	ORPHA:124
HP:0004808	Acute myeloid leukemia	6125	RPL5	ORPHA:124
HP:0004808	Acute myeloid leukemia	6204	RPS10	ORPHA:124
HP:0004808	Acute myeloid leukemia	2623	GATA1	ORPHA:124
HP:0004808	Acute myeloid leukemia	6133	RPL9	ORPHA:124
HP:0004808	Acute myeloid leukemia	6231	RPS26	ORPHA:124
HP:0004808	Acute myeloid leukemia	11224	RPL35	ORPHA:124
HP:0004808	Acute myeloid leukemia	6218	RPS17	ORPHA:124
HP:0004808	Acute myeloid leukemia	6154	RPL26	ORPHA:124
HP:0004808	Acute myeloid leukemia	6210	RPS15A	ORPHA:124
HP:0004808	Acute myeloid leukemia	90121	TSR2	ORPHA:124
HP:0004808	Acute myeloid leukemia	6141	RPL18	ORPHA:124
HP:0004808	Acute myeloid leukemia	6235	RPS29	ORPHA:124
HP:0004808	Acute myeloid leukemia	51816	ADA2	ORPHA:124
HP:0004808	Acute myeloid leukemia	6729	SRP54	OMIM:260400
HP:0004808	Acute myeloid leukemia	51119	SBDS	OMIM:260400
HP:0004808	Acute myeloid leukemia	51119	SBDS	ORPHA:811
HP:0004808	Acute myeloid leukemia	51428	DDX41	OMIM:616871
HP:0004808	Acute myeloid leukemia	29089	UBE2T	OMIM:616435
HP:0004808	Acute myeloid leukemia	79728	PALB2	OMIM:610832
HP:0004808	Acute myeloid leukemia	79631	EFL1	ORPHA:811
HP:0004809	Neonatal alloimmune thrombocytopenia	10535	RNASEH2A	ORPHA:51
HP:0004809	Neonatal alloimmune thrombocytopenia	84153	RNASEH2C	ORPHA:51
HP:0004809	Neonatal alloimmune thrombocytopenia	25939	SAMHD1	ORPHA:51
HP:0004809	Neonatal alloimmune thrombocytopenia	79621	RNASEH2B	ORPHA:51
HP:0004809	Neonatal alloimmune thrombocytopenia	103	ADAR	ORPHA:51
HP:0004809	Neonatal alloimmune thrombocytopenia	11277	TREX1	ORPHA:51
HP:0004809	Neonatal alloimmune thrombocytopenia	100147744	RNU7-1	ORPHA:51
HP:0004809	Neonatal alloimmune thrombocytopenia	134353	LSM11	ORPHA:51
HP:0004809	Neonatal alloimmune thrombocytopenia	64135	IFIH1	ORPHA:51
HP:0004809	Neonatal alloimmune thrombocytopenia	2811	GP1BA	ORPHA:853
HP:0004809	Neonatal alloimmune thrombocytopenia	2812	GP1BB	ORPHA:853
HP:0004809	Neonatal alloimmune thrombocytopenia	3674	ITGA2B	ORPHA:853
HP:0004809	Neonatal alloimmune thrombocytopenia	3673	ITGA2	ORPHA:853
HP:0004809	Neonatal alloimmune thrombocytopenia	135228	CD109	ORPHA:853
HP:0004809	Neonatal alloimmune thrombocytopenia	3690	ITGB3	ORPHA:853
HP:0001973	Autoimmune thrombocytopenia	355	FAS	ORPHA:3261
HP:0001973	Autoimmune thrombocytopenia	355	FAS	OMIM:601859
HP:0001973	Autoimmune thrombocytopenia	356	FASLG	ORPHA:3261
HP:0001973	Autoimmune thrombocytopenia	356	FASLG	OMIM:601859
HP:0001973	Autoimmune thrombocytopenia	843	CASP10	ORPHA:3261
HP:0001973	Autoimmune thrombocytopenia	843	CASP10	OMIM:603909
HP:0001973	Autoimmune thrombocytopenia	6772	STAT1	ORPHA:391487
HP:0001973	Autoimmune thrombocytopenia	4791	NFKB2	ORPHA:293978
HP:0001973	Autoimmune thrombocytopenia	4791	NFKB2	ORPHA:1572
HP:0001973	Autoimmune thrombocytopenia	3702	ITK	OMIM:613011
HP:0001973	Autoimmune thrombocytopenia	1493	CTLA4	ORPHA:436159
HP:0001973	Autoimmune thrombocytopenia	1493	CTLA4	OMIM:616100
HP:0001973	Autoimmune thrombocytopenia	975	CD81	OMIM:613496
HP:0001973	Autoimmune thrombocytopenia	975	CD81	ORPHA:1572
HP:0001973	Autoimmune thrombocytopenia	6774	STAT3	OMIM:615952
HP:0001973	Autoimmune thrombocytopenia	4860	PNP	OMIM:613179
HP:0001973	Autoimmune thrombocytopenia	4860	PNP	ORPHA:760
HP:0001973	Autoimmune thrombocytopenia	5580	PRKCD	OMIM:615559
HP:0001973	Autoimmune thrombocytopenia	987	LRBA	OMIM:614700
HP:0001973	Autoimmune thrombocytopenia	54440	SASH3	OMIM:301082
HP:0001973	Autoimmune thrombocytopenia	50943	FOXP3	OMIM:304790
HP:0001973	Autoimmune thrombocytopenia	50943	FOXP3	ORPHA:37042
HP:0001973	Autoimmune thrombocytopenia	7174	TPP2	ORPHA:444463
HP:0001973	Autoimmune thrombocytopenia	7174	TPP2	OMIM:619220
HP:0001973	Autoimmune thrombocytopenia	51284	TLR7	OMIM:301080
HP:0001973	Autoimmune thrombocytopenia	3575	IL7R	ORPHA:169154
HP:0001973	Autoimmune thrombocytopenia	4893	NRAS	OMIM:614470
HP:0001973	Autoimmune thrombocytopenia	3845	KRAS	OMIM:614470
HP:0001973	Autoimmune thrombocytopenia	56259	CTNNBL1	OMIM:619846
HP:0001973	Autoimmune thrombocytopenia	5994	RFXAP	ORPHA:572
HP:0001973	Autoimmune thrombocytopenia	4261	CIITA	ORPHA:572
HP:0001973	Autoimmune thrombocytopenia	5993	RFX5	ORPHA:572
HP:0001973	Autoimmune thrombocytopenia	8625	RFXANK	ORPHA:572
HP:0001973	Autoimmune thrombocytopenia	54	ACP5	OMIM:607944
HP:0001973	Autoimmune thrombocytopenia	54	ACP5	ORPHA:1855
HP:0001973	Autoimmune thrombocytopenia	6609	SMPD1	ORPHA:77293
HP:0001973	Autoimmune thrombocytopenia	139818	DOCK11	OMIM:301109
HP:0001973	Autoimmune thrombocytopenia	84061	MAGT1	OMIM:300853
HP:0001973	Autoimmune thrombocytopenia	8651	SOCS1	OMIM:619375
HP:0001973	Autoimmune thrombocytopenia	27040	LAT	OMIM:617514
HP:0001973	Autoimmune thrombocytopenia	100	ADA	OMIM:102700
HP:0001973	Autoimmune thrombocytopenia	6786	STIM1	OMIM:612783
HP:0001973	Autoimmune thrombocytopenia	10092	ARPC5	OMIM:620565
HP:0001973	Autoimmune thrombocytopenia	2581	GALC	OMIM:245200
HP:0001973	Autoimmune thrombocytopenia	10125	RASGRP1	OMIM:618534
HP:0001973	Autoimmune thrombocytopenia	23495	TNFRSF13B	ORPHA:1572
HP:0001973	Autoimmune thrombocytopenia	4790	NFKB1	ORPHA:1572
HP:0001973	Autoimmune thrombocytopenia	115650	TNFRSF13C	ORPHA:1572
HP:0001973	Autoimmune thrombocytopenia	1380	CR2	ORPHA:1572
HP:0001973	Autoimmune thrombocytopenia	8742	TNFSF12	ORPHA:1572
HP:0001973	Autoimmune thrombocytopenia	930	CD19	ORPHA:1572
HP:0001973	Autoimmune thrombocytopenia	29851	ICOS	ORPHA:1572
HP:0001973	Autoimmune thrombocytopenia	931	MS4A1	ORPHA:1572
HP:0001973	Autoimmune thrombocytopenia	359948	IRF2BP2	ORPHA:1572
HP:0001973	Autoimmune thrombocytopenia	9138	ARHGEF1	OMIM:618459
HP:0001973	Autoimmune thrombocytopenia	7535	ZAP70	ORPHA:911
HP:0001973	Autoimmune thrombocytopenia	8085	KMT2D	OMIM:147920
HP:0001973	Autoimmune thrombocytopenia	7403	KDM6A	OMIM:147920
HP:0004839	Pyropoikilocytosis	6708	SPTA1	OMIM:266140
HP:0004839	Pyropoikilocytosis	6710	SPTB	OMIM:617948
HP:0004804	Congenital hemolytic anemia	2035	EPB41	ORPHA:288
HP:0004804	Congenital hemolytic anemia	2995	GYPC	ORPHA:288
HP:0004804	Congenital hemolytic anemia	6710	SPTB	ORPHA:288
HP:0004804	Congenital hemolytic anemia	6708	SPTA1	ORPHA:288
HP:0004804	Congenital hemolytic anemia	6521	SLC4A1	ORPHA:3202
HP:0004804	Congenital hemolytic anemia	9780	PIEZO1	ORPHA:3202
HP:0004804	Congenital hemolytic anemia	3783	KCNN4	ORPHA:3202
HP:0004804	Congenital hemolytic anemia	5313	PKLR	ORPHA:766
HP:0006721	Acute lymphoblastic leukemia	2120	ETV6	OMIM:616216
HP:0006721	Acute lymphoblastic leukemia	675	BRCA2	OMIM:613029
HP:0006721	Acute lymphoblastic leukemia	6929	TCF3	OMIM:619824
HP:0006721	Acute lymphoblastic leukemia	25	ABL1	OMIM:608232
HP:0006721	Acute lymphoblastic leukemia	10312	TCIRG1	ORPHA:486
HP:0006721	Acute lymphoblastic leukemia	6728	SRP19	ORPHA:486
HP:0006721	Acute lymphoblastic leukemia	1991	ELANE	ORPHA:486
HP:0006721	Acute lymphoblastic leukemia	2672	GFI1	ORPHA:486
HP:0006721	Acute lymphoblastic leukemia	81570	CLPB	ORPHA:486
HP:0006721	Acute lymphoblastic leukemia	3981	LIG4	ORPHA:235
HP:0006721	Acute lymphoblastic leukemia	3981	LIG4	OMIM:606593
HP:0006721	Acute lymphoblastic leukemia	54888	NSUN2	ORPHA:235
HP:0006721	Acute lymphoblastic leukemia	641	BLM	ORPHA:125
HP:0006721	Acute lymphoblastic leukemia	9184	BUB3	ORPHA:1052
HP:0006721	Acute lymphoblastic leukemia	699	BUB1	ORPHA:1052
HP:0006721	Acute lymphoblastic leukemia	9702	CEP57	ORPHA:1052
HP:0006721	Acute lymphoblastic leukemia	9319	TRIP13	ORPHA:1052
HP:0006721	Acute lymphoblastic leukemia	701	BUB1B	ORPHA:1052
HP:0006721	Acute lymphoblastic leukemia	2782	GNB1	OMIM:613065
HP:0006721	Acute lymphoblastic leukemia	6886	TAL1	OMIM:613065
HP:0006721	Acute lymphoblastic leukemia	6887	TAL2	OMIM:613065
HP:0006721	Acute lymphoblastic leukemia	581	BAX	OMIM:613065
HP:0006721	Acute lymphoblastic leukemia	2322	FLT3	OMIM:613065
HP:0006721	Acute lymphoblastic leukemia	4683	NBN	OMIM:613065
HP:0006721	Acute lymphoblastic leukemia	8021	NUP214	OMIM:613065
HP:0006721	Acute lymphoblastic leukemia	613	BCR	OMIM:613065
HP:0006721	Acute lymphoblastic leukemia	9487	PIGL	OMIM:280000
HP:0006721	Acute lymphoblastic leukemia	10320	IKZF1	OMIM:616873
HP:0006721	Acute lymphoblastic leukemia	472	ATM	OMIM:208900
HP:0006721	Acute lymphoblastic leukemia	8216	LZTR1	OMIM:605275
HP:0006721	Acute lymphoblastic leukemia	10456	HAX1	OMIM:610738
HP:0006721	Acute lymphoblastic leukemia	64324	NSD1	ORPHA:821
HP:0006721	Acute lymphoblastic leukemia	10297	APC2	ORPHA:821
HP:0006721	Acute lymphoblastic leukemia	7157	TP53	ORPHA:524
HP:0006721	Acute lymphoblastic leukemia	1029	CDKN2A	ORPHA:524
HP:0006721	Acute lymphoblastic leukemia	4193	MDM2	ORPHA:524
HP:0006721	Acute lymphoblastic leukemia	11200	CHEK2	ORPHA:524
HP:0006721	Acute lymphoblastic leukemia	4436	MSH2	OMIM:619096
HP:0006721	Acute lymphoblastic leukemia	1854	DUT	OMIM:620044
HP:0004802	Episodic hemolytic anemia	6573	SLC19A1	OMIM:601775
HP:0004802	Episodic hemolytic anemia	10058	ABCB6	ORPHA:90044
HP:0004802	Episodic hemolytic anemia	64241	ABCG8	OMIM:210250
HP:0025640	Abnormal urinary mineral level	540	ATP7B	OMIM:277900
HP:0025643	Tarlov cyst	23395	LARS2	OMIM:615300
HP:0025643	Tarlov cyst	7042	TGFB2	OMIM:614816
HP:0025646	Bilateral polymicrogyria	25942	SIN3A	OMIM:613406
HP:0025646	Bilateral polymicrogyria	4613	MYCN	OMIM:620748
HP:0025646	Bilateral polymicrogyria	9289	ADGRG1	ORPHA:98889
HP:0025646	Bilateral polymicrogyria	5297	PI4KA	ORPHA:98889
HP:0025646	Bilateral polymicrogyria	27286	SRPX2	ORPHA:98889
HP:0025646	Bilateral polymicrogyria	27286	SRPX2	OMIM:300643
HP:0004812	B Acute Lymphoblastic Leukemia	2120	ETV6	OMIM:616216
HP:0004812	B Acute Lymphoblastic Leukemia	675	BRCA2	OMIM:613029
HP:0004812	B Acute Lymphoblastic Leukemia	6929	TCF3	OMIM:619824
HP:0030948	Elevated gamma-glutamyltransferase level	7840	ALMS1	ORPHA:64
HP:0030948	Elevated gamma-glutamyltransferase level	3376	IARS1	OMIM:617093
HP:0030948	Elevated gamma-glutamyltransferase level	5311	PKD2	OMIM:613095
HP:0030948	Elevated gamma-glutamyltransferase level	23019	CNOT1	OMIM:618500
HP:0030948	Elevated gamma-glutamyltransferase level	57128	LYRM4	OMIM:615595
HP:0030948	Elevated gamma-glutamyltransferase level	11222	MRPL3	OMIM:614582
HP:0030948	Elevated gamma-glutamyltransferase level	5828	PEX2	OMIM:614866
HP:0030948	Elevated gamma-glutamyltransferase level	5314	PKHD1	ORPHA:53035
HP:0030948	Elevated gamma-glutamyltransferase level	5314	PKHD1	ORPHA:731
HP:0030948	Elevated gamma-glutamyltransferase level	123264	SLC51B	OMIM:619481
HP:0030948	Elevated gamma-glutamyltransferase level	10165	SLC25A13	OMIM:605814
HP:0030948	Elevated gamma-glutamyltransferase level	10165	SLC25A13	ORPHA:247598
HP:0030948	Elevated gamma-glutamyltransferase level	10165	SLC25A13	OMIM:603471
HP:0030948	Elevated gamma-glutamyltransferase level	5244	ABCB4	OMIM:602347
HP:0030948	Elevated gamma-glutamyltransferase level	5244	ABCB4	ORPHA:69663
HP:0030948	Elevated gamma-glutamyltransferase level	197131	UBR1	OMIM:243800
HP:0030948	Elevated gamma-glutamyltransferase level	3594	IL12RB1	ORPHA:186
HP:0030948	Elevated gamma-glutamyltransferase level	23534	TNPO3	ORPHA:186
HP:0030948	Elevated gamma-glutamyltransferase level	3592	IL12A	ORPHA:186
HP:0030948	Elevated gamma-glutamyltransferase level	6689	SPIB	ORPHA:186
HP:0030948	Elevated gamma-glutamyltransferase level	5450	POU2AF1	ORPHA:186
HP:0030948	Elevated gamma-glutamyltransferase level	9966	TNFSF15	ORPHA:186
HP:0030948	Elevated gamma-glutamyltransferase level	79258	MMEL1	ORPHA:186
HP:0030948	Elevated gamma-glutamyltransferase level	3663	IRF5	ORPHA:186
HP:0030948	Elevated gamma-glutamyltransferase level	7504	XK	OMIM:300842
HP:0030948	Elevated gamma-glutamyltransferase level	6514	SLC2A2	OMIM:227810
HP:0030948	Elevated gamma-glutamyltransferase level	162	AP1B1	OMIM:242150
HP:0030948	Elevated gamma-glutamyltransferase level	4141	MARS1	OMIM:615486
HP:0030948	Elevated gamma-glutamyltransferase level	200931	SLC51A	OMIM:619484
HP:0030948	Elevated gamma-glutamyltransferase level	54931	TRMT10C	OMIM:616974
HP:0030948	Elevated gamma-glutamyltransferase level	11231	SEC63	ORPHA:2924
HP:0030948	Elevated gamma-glutamyltransferase level	5589	PRKCSH	ORPHA:2924
HP:0030948	Elevated gamma-glutamyltransferase level	4041	LRP5	ORPHA:2924
HP:0030948	Elevated gamma-glutamyltransferase level	2542	SLC37A4	OMIM:619525
HP:0030948	Elevated gamma-glutamyltransferase level	6513	SLC2A1	OMIM:608885
HP:0030948	Elevated gamma-glutamyltransferase level	617	BCS1L	OMIM:124000
HP:0030948	Elevated gamma-glutamyltransferase level	199221	DZIP1L	ORPHA:731
HP:0030948	Elevated gamma-glutamyltransferase level	2819	GPD1	OMIM:614480
HP:0030948	Elevated gamma-glutamyltransferase level	51473	DCDC2	OMIM:617394
HP:0030948	Elevated gamma-glutamyltransferase level	197258	FCSK	OMIM:618324
HP:0030948	Elevated gamma-glutamyltransferase level	79989	IFT56	OMIM:619534
HP:0030948	Elevated gamma-glutamyltransferase level	50619	DEF6	OMIM:619573
HP:0030948	Elevated gamma-glutamyltransferase level	3643	INSR	OMIM:246200
HP:0030948	Elevated gamma-glutamyltransferase level	125988	MICOS13	OMIM:618329
HP:0030948	Elevated gamma-glutamyltransferase level	3988	LIPA	OMIM:278000
HP:0030948	Elevated gamma-glutamyltransferase level	4358	MPV17	OMIM:256810
HP:0030948	Elevated gamma-glutamyltransferase level	11277	TREX1	ORPHA:247691
HP:0030948	Elevated gamma-glutamyltransferase level	26276	VPS33B	OMIM:208085
HP:0030948	Elevated gamma-glutamyltransferase level	55340	GIMAP5	OMIM:619463
HP:0030948	Elevated gamma-glutamyltransferase level	113220	KIF12	OMIM:619662
HP:0030948	Elevated gamma-glutamyltransferase level	57511	COG6	OMIM:614576
HP:0030948	Elevated gamma-glutamyltransferase level	4645	MYO5B	OMIM:619868
HP:0030948	Elevated gamma-glutamyltransferase level	4067	LYN	OMIM:620376
HP:0030948	Elevated gamma-glutamyltransferase level	6309	SC5D	OMIM:607330
HP:0030949	Glomerular deposits	57122	NUP107	OMIM:616730
HP:0030949	Glomerular deposits	57122	NUP107	OMIM:618348
HP:0030949	Glomerular deposits	4312	MMP1	ORPHA:79408
HP:0030949	Glomerular deposits	1294	COL7A1	ORPHA:79408
HP:0030949	Glomerular deposits	7369	UMOD	OMIM:162000
HP:0030949	Glomerular deposits	10253	SPRY2	OMIM:616818
HP:0030949	Glomerular deposits	3075	CFH	OMIM:609814
HP:0030949	Glomerular deposits	81494	CFHR5	OMIM:614809
HP:0030949	Glomerular deposits	2335	FN1	OMIM:601894
HP:0030949	Glomerular deposits	4311	MME	ORPHA:69063
HP:0030949	Glomerular deposits	57728	WDR19	OMIM:614377
HP:0030949	Glomerular deposits	57728	WDR19	OMIM:616307
HP:0004817	Drug-sensitive hemolytic anemia	3043	HBB	ORPHA:2133
HP:0004818	Paroxysmal nocturnal hemoglobinuria	5277	PIGA	OMIM:300818
HP:0004818	Paroxysmal nocturnal hemoglobinuria	51604	PIGT	OMIM:615399
HP:0004818	Paroxysmal nocturnal hemoglobinuria	966	CD59	OMIM:612300
HP:0004819	Normocytic hypoplastic anemia	4598	MVK	OMIM:610377
HP:0004870	Chronic hemolytic anemia	5313	PKLR	OMIM:266200
HP:0004870	Chronic hemolytic anemia	5313	PKLR	ORPHA:766
HP:0004870	Chronic hemolytic anemia	7167	TPI1	OMIM:615512
HP:0004870	Chronic hemolytic anemia	3043	HBB	ORPHA:232
HP:0004870	Chronic hemolytic anemia	374354	NHLRC2	OMIM:618278
HP:0004870	Chronic hemolytic anemia	6710	SPTB	OMIM:617948
HP:0004870	Chronic hemolytic anemia	64241	ABCG8	OMIM:210250
HP:0004814	Fava bean-induced hemolytic anemia	8573	CASK	OMIM:300908
HP:0004814	Fava bean-induced hemolytic anemia	2539	G6PD	OMIM:300908
HP:0004814	Fava bean-induced hemolytic anemia	2936	GSR	OMIM:618660
HP:0004810	Congenital hypoplastic anemia	6023	RMRP	OMIM:250250
HP:0004810	Congenital hypoplastic anemia	9663	LPIN2	ORPHA:77297
HP:0004810	Congenital hypoplastic anemia	374879	ZNF699	OMIM:619488
HP:0004810	Congenital hypoplastic anemia	9493	KIF23	OMIM:105600
HP:0004810	Congenital hypoplastic anemia	6223	RPS19	OMIM:105650
HP:0025650	Steroid-dependent nephrotic syndrome	340533	NEXMIF	OMIM:300912
HP:0030950	Pulmonary venous hypertension	84665	MYPN	ORPHA:75249
HP:0030950	Pulmonary venous hypertension	2318	FLNC	ORPHA:75249
HP:0030950	Pulmonary venous hypertension	7139	TNNT2	ORPHA:75249
HP:0030950	Pulmonary venous hypertension	7137	TNNI3	ORPHA:75249
HP:0030950	Pulmonary venous hypertension	10112	KIF20A	ORPHA:75249
HP:0030950	Pulmonary venous hypertension	6521	SLC4A1	ORPHA:3202
HP:0030950	Pulmonary venous hypertension	9780	PIEZO1	ORPHA:3202
HP:0030950	Pulmonary venous hypertension	3783	KCNN4	ORPHA:3202
HP:0030950	Pulmonary venous hypertension	2542	SLC37A4	ORPHA:79259
HP:0030951	Skeletal muscle fibrosis	10049	DNAJB6	ORPHA:34516
HP:0030951	Skeletal muscle fibrosis	51651	PTRH2	OMIM:616263
HP:0030951	Skeletal muscle fibrosis	51651	PTRH2	ORPHA:456312
HP:0030953	Conjunctival hyperemia	4137	MAPT	ORPHA:240071
HP:0030953	Conjunctival hyperemia	114548	NLRP3	OMIM:191900
HP:0030953	Conjunctival hyperemia	114548	NLRP3	OMIM:148200
HP:0030953	Conjunctival hyperemia	7132	TNFRSF1A	OMIM:142680
HP:0030953	Conjunctival hyperemia	6472	SHMT2	OMIM:619121
HP:0030953	Conjunctival hyperemia	355	FAS	ORPHA:3437
HP:0030953	Conjunctival hyperemia	26191	PTPN22	ORPHA:3437
HP:0030953	Conjunctival hyperemia	164	AP1G1	OMIM:619548
HP:0004820	Acute myelomonocytic leukemia	219285	SAMD9L	OMIM:159550
HP:0004820	Acute myelomonocytic leukemia	219285	SAMD9L	ORPHA:2585
HP:0004820	Acute myelomonocytic leukemia	3417	IDH1	ORPHA:99646
HP:0030955	Addictive alcohol use	3064	HTT	ORPHA:399
HP:0030955	Addictive alcohol use	6515	SLC2A3	ORPHA:399
HP:0030955	Addictive alcohol use	6774	STAT3	ORPHA:520
HP:0030955	Addictive alcohol use	5371	PML	ORPHA:520
HP:0030955	Addictive alcohol use	5914	RARA	ORPHA:520
HP:0030955	Addictive alcohol use	359948	IRF2BP2	ORPHA:520
HP:0030955	Addictive alcohol use	81608	FIP1L1	ORPHA:520
HP:0030955	Addictive alcohol use	4869	NPM1	ORPHA:520
HP:0030955	Addictive alcohol use	5573	PRKAR1A	ORPHA:520
HP:0030955	Addictive alcohol use	54880	BCOR	ORPHA:520
HP:0030955	Addictive alcohol use	64859	NABP1	ORPHA:520
HP:0030955	Addictive alcohol use	6777	STAT5B	ORPHA:520
HP:0030955	Addictive alcohol use	4926	NUMA1	ORPHA:520
HP:0030955	Addictive alcohol use	7704	ZBTB16	ORPHA:520
HP:0030955	Addictive alcohol use	79718	TBL1XR1	ORPHA:520
HP:0030955	Addictive alcohol use	8910	SGCE	OMIM:159900
HP:0030955	Addictive alcohol use	23592	LEMD3	ORPHA:166119
HP:0030955	Addictive alcohol use	50833	TAS2R16	OMIM:103780
HP:0030955	Addictive alcohol use	125	ADH1B	OMIM:103780
HP:0030955	Addictive alcohol use	126	ADH1C	OMIM:103780
HP:0030955	Addictive alcohol use	2555	GABRA2	OMIM:103780
HP:0030955	Addictive alcohol use	7187	TRAF3	ORPHA:1930
HP:0030955	Addictive alcohol use	81622	UNC93B1	ORPHA:1930
HP:0030955	Addictive alcohol use	148022	TICAM1	ORPHA:1930
HP:0030955	Addictive alcohol use	7098	TLR3	ORPHA:1930
HP:0030955	Addictive alcohol use	29110	TBK1	ORPHA:1930
HP:0030956	Abnormality of cardiovascular system electrophysiology	3949	LDLR	ORPHA:391665
HP:0030956	Abnormality of cardiovascular system electrophysiology	255738	PCSK9	ORPHA:391665
HP:0030956	Abnormality of cardiovascular system electrophysiology	26119	LDLRAP1	ORPHA:391665
HP:0030956	Abnormality of cardiovascular system electrophysiology	338	APOB	ORPHA:391665
HP:0030956	Abnormality of cardiovascular system electrophysiology	64240	ABCG5	ORPHA:391665
HP:0030956	Abnormality of cardiovascular system electrophysiology	64241	ABCG8	ORPHA:391665
HP:0030956	Abnormality of cardiovascular system electrophysiology	10320	IKZF1	ORPHA:36426
HP:0030956	Abnormality of cardiovascular system electrophysiology	2070	EYA4	OMIM:605362
HP:0030956	Abnormality of cardiovascular system electrophysiology	2771	GNAI2	OMIM:192605
HP:0030956	Abnormality of cardiovascular system electrophysiology	28976	ACAD9	ORPHA:99901
HP:0030956	Abnormality of cardiovascular system electrophysiology	1804	DPP6	OMIM:612956
HP:0030956	Abnormality of cardiovascular system electrophysiology	6804	STX1A	ORPHA:904
HP:0030956	Abnormality of cardiovascular system electrophysiology	7461	CLIP2	ORPHA:904
HP:0030956	Abnormality of cardiovascular system electrophysiology	8468	FKBP6	ORPHA:904
HP:0030956	Abnormality of cardiovascular system electrophysiology	5982	RFC2	ORPHA:904
HP:0030956	Abnormality of cardiovascular system electrophysiology	2969	GTF2I	ORPHA:904
HP:0030956	Abnormality of cardiovascular system electrophysiology	3984	LIMK1	ORPHA:904
HP:0030956	Abnormality of cardiovascular system electrophysiology	9569	GTF2IRD1	ORPHA:904
HP:0030956	Abnormality of cardiovascular system electrophysiology	155382	VPS37D	ORPHA:904
HP:0030956	Abnormality of cardiovascular system electrophysiology	155368	METTL27	ORPHA:904
HP:0030956	Abnormality of cardiovascular system electrophysiology	114049	BUD23	ORPHA:904
HP:0030956	Abnormality of cardiovascular system electrophysiology	7458	EIF4H	ORPHA:904
HP:0030956	Abnormality of cardiovascular system electrophysiology	84163	GTF2IRD2	ORPHA:904
HP:0030956	Abnormality of cardiovascular system electrophysiology	26608	TBL2	ORPHA:904
HP:0030956	Abnormality of cardiovascular system electrophysiology	653361	NCF1	ORPHA:904
HP:0030956	Abnormality of cardiovascular system electrophysiology	135886	TMEM270	ORPHA:904
HP:0030956	Abnormality of cardiovascular system electrophysiology	9031	BAZ1B	ORPHA:904
HP:0030956	Abnormality of cardiovascular system electrophysiology	4040	LRP6	OMIM:610947
HP:0030956	Abnormality of cardiovascular system electrophysiology	207	AKT1	ORPHA:744
HP:0030956	Abnormality of cardiovascular system electrophysiology	80206	FHOD3	OMIM:619402
HP:0030956	Abnormality of cardiovascular system electrophysiology	26154	ABCA12	ORPHA:457
HP:0030956	Abnormality of cardiovascular system electrophysiology	23529	CLCF1	ORPHA:1545
HP:0030956	Abnormality of cardiovascular system electrophysiology	9244	CRLF1	ORPHA:1545
HP:0030956	Abnormality of cardiovascular system electrophysiology	5167	ENPP1	ORPHA:758
HP:0030956	Abnormality of cardiovascular system electrophysiology	368	ABCC6	ORPHA:758
HP:0030956	Abnormality of cardiovascular system electrophysiology	8518	ELP1	OMIM:223900
HP:0030956	Abnormality of cardiovascular system electrophysiology	8518	ELP1	ORPHA:1764
HP:0030956	Abnormality of cardiovascular system electrophysiology	6899	TBX1	ORPHA:3384
HP:0030956	Abnormality of cardiovascular system electrophysiology	137814	NKX2-6	ORPHA:3384
HP:0030956	Abnormality of cardiovascular system electrophysiology	23129	PLXND1	ORPHA:3384
HP:0030956	Abnormality of cardiovascular system electrophysiology	6390	SDHB	OMIM:115310
HP:0030956	Abnormality of cardiovascular system electrophysiology	55654	TMEM127	OMIM:171300
HP:0030956	Abnormality of cardiovascular system electrophysiology	4149	MAX	OMIM:171300
HP:0030956	Abnormality of cardiovascular system electrophysiology	5979	RET	OMIM:171300
HP:0030956	Abnormality of cardiovascular system electrophysiology	171023	ASXL1	ORPHA:98849
HP:0030956	Abnormality of cardiovascular system electrophysiology	54790	TET2	ORPHA:98849
HP:0030956	Abnormality of cardiovascular system electrophysiology	3815	KIT	ORPHA:98849
HP:0030956	Abnormality of cardiovascular system electrophysiology	6427	SRSF2	ORPHA:98849
HP:0030956	Abnormality of cardiovascular system electrophysiology	5498	PPOX	OMIM:176200
HP:0030956	Abnormality of cardiovascular system electrophysiology	5498	PPOX	ORPHA:79473
HP:0030956	Abnormality of cardiovascular system electrophysiology	6833	ABCC8	ORPHA:276575
HP:0030956	Abnormality of cardiovascular system electrophysiology	6391	SDHC	OMIM:605373
HP:0030956	Abnormality of cardiovascular system electrophysiology	3767	KCNJ11	ORPHA:276580
HP:0030956	Abnormality of cardiovascular system electrophysiology	8029	CUBN	ORPHA:35858
HP:0030956	Abnormality of cardiovascular system electrophysiology	81693	AMN	ORPHA:35858
HP:0030956	Abnormality of cardiovascular system electrophysiology	65082	VPS33A	ORPHA:505248
HP:0030956	Abnormality of cardiovascular system electrophysiology	1439	CSF2RB	ORPHA:264675
HP:0030956	Abnormality of cardiovascular system electrophysiology	1438	CSF2RA	ORPHA:264675
HP:0030956	Abnormality of cardiovascular system electrophysiology	9692	PRORP	OMIM:619737
HP:0030956	Abnormality of cardiovascular system electrophysiology	1889	ECE1	OMIM:613870
HP:0030956	Abnormality of cardiovascular system electrophysiology	100134444	KCNJ18	OMIM:613239
HP:0030956	Abnormality of cardiovascular system electrophysiology	3172	HNF4A	ORPHA:263455
HP:0030956	Abnormality of cardiovascular system electrophysiology	7253	TSHR	OMIM:609152
HP:0030956	Abnormality of cardiovascular system electrophysiology	7253	TSHR	OMIM:603373
HP:0030956	Abnormality of cardiovascular system electrophysiology	51086	TNNI3K	OMIM:616117
HP:0030956	Abnormality of cardiovascular system electrophysiology	6392	SDHD	OMIM:168000
HP:0030956	Abnormality of cardiovascular system electrophysiology	2328	FMO3	OMIM:602079
HP:0030956	Abnormality of cardiovascular system electrophysiology	6335	SCN9A	OMIM:167400
HP:0030956	Abnormality of cardiovascular system electrophysiology	2203	FBP1	ORPHA:348
HP:0030956	Abnormality of cardiovascular system electrophysiology	2203	FBP1	OMIM:229700
HP:0030956	Abnormality of cardiovascular system electrophysiology	5621	PRNP	ORPHA:466
HP:0030956	Abnormality of cardiovascular system electrophysiology	374879	ZNF699	OMIM:619488
HP:0030956	Abnormality of cardiovascular system electrophysiology	3145	HMBS	OMIM:176000
HP:0030956	Abnormality of cardiovascular system electrophysiology	3145	HMBS	ORPHA:79276
HP:0030956	Abnormality of cardiovascular system electrophysiology	745	MYRF	OMIM:618280
HP:0030956	Abnormality of cardiovascular system electrophysiology	23630	KCNE5	ORPHA:130
HP:0030956	Abnormality of cardiovascular system electrophysiology	10371	SEMA3A	ORPHA:130
HP:0030956	Abnormality of cardiovascular system electrophysiology	3764	KCNJ8	ORPHA:130
HP:0030956	Abnormality of cardiovascular system electrophysiology	3752	KCND3	ORPHA:130
HP:0030956	Abnormality of cardiovascular system electrophysiology	7871	SLMAP	ORPHA:130
HP:0030956	Abnormality of cardiovascular system electrophysiology	29098	RANGRF	ORPHA:130
HP:0030956	Abnormality of cardiovascular system electrophysiology	55800	SCN3B	ORPHA:130
HP:0030956	Abnormality of cardiovascular system electrophysiology	783	CACNB2	ORPHA:130
HP:0030956	Abnormality of cardiovascular system electrophysiology	6327	SCN2B	ORPHA:130
HP:0030956	Abnormality of cardiovascular system electrophysiology	781	CACNA2D1	ORPHA:130
HP:0030956	Abnormality of cardiovascular system electrophysiology	23171	GPD1L	ORPHA:130
HP:0030956	Abnormality of cardiovascular system electrophysiology	6440	SFTPC	ORPHA:685082
HP:0030956	Abnormality of cardiovascular system electrophysiology	21	ABCA3	ORPHA:685082
HP:0030956	Abnormality of cardiovascular system electrophysiology	6439	SFTPB	ORPHA:685082
HP:0030956	Abnormality of cardiovascular system electrophysiology	55739	NAXD	OMIM:618321
HP:0030956	Abnormality of cardiovascular system electrophysiology	5236	PGM1	OMIM:614921
HP:0030956	Abnormality of cardiovascular system electrophysiology	1371	CPOX	OMIM:121300
HP:0030956	Abnormality of cardiovascular system electrophysiology	1371	CPOX	ORPHA:79273
HP:0030956	Abnormality of cardiovascular system electrophysiology	5837	PYGM	ORPHA:368
HP:0030956	Abnormality of cardiovascular system electrophysiology	6927	HNF1A	ORPHA:324575
HP:0030956	Abnormality of cardiovascular system electrophysiology	667	DST	OMIM:614653
HP:0030956	Abnormality of cardiovascular system electrophysiology	7068	THRB	ORPHA:566243
HP:0030956	Abnormality of cardiovascular system electrophysiology	6736	SRY	ORPHA:1772
HP:0030956	Abnormality of cardiovascular system electrophysiology	284119	CAVIN1	OMIM:613327
HP:0030956	Abnormality of cardiovascular system electrophysiology	7351	UCP2	ORPHA:276556
HP:0030956	Abnormality of cardiovascular system electrophysiology	8942	KYNU	ORPHA:79155
HP:0030956	Abnormality of cardiovascular system electrophysiology	5052	PRDX1	OMIM:277400
HP:0030956	Abnormality of cardiovascular system electrophysiology	25974	MMACHC	OMIM:277400
HP:0030956	Abnormality of cardiovascular system electrophysiology	6005	RHAG	ORPHA:71275
HP:0030956	Abnormality of cardiovascular system electrophysiology	6006	RHCE	ORPHA:71275
HP:0030956	Abnormality of cardiovascular system electrophysiology	6007	RHD	ORPHA:71275
HP:0030956	Abnormality of cardiovascular system electrophysiology	1798	DPAGT1	ORPHA:86309
HP:0030956	Abnormality of cardiovascular system electrophysiology	6535	SLC6A8	OMIM:300352
HP:0030956	Abnormality of cardiovascular system electrophysiology	29925	GMPPB	OMIM:615351
HP:0030956	Abnormality of cardiovascular system electrophysiology	2778	GNAS	ORPHA:94089
HP:0030956	Abnormality of cardiovascular system electrophysiology	2778	GNAS	ORPHA:79443
HP:0030956	Abnormality of cardiovascular system electrophysiology	2778	GNAS	ORPHA:79444
HP:0030956	Abnormality of cardiovascular system electrophysiology	8675	STX16	ORPHA:94089
HP:0030956	Abnormality of cardiovascular system electrophysiology	131118	DNAJC19	OMIM:610198
HP:0030956	Abnormality of cardiovascular system electrophysiology	131118	DNAJC19	ORPHA:66634
HP:0030956	Abnormality of cardiovascular system electrophysiology	3033	HADH	ORPHA:71212
HP:0030956	Abnormality of cardiovascular system electrophysiology	5718	PSMD12	ORPHA:529962
HP:0030956	Abnormality of cardiovascular system electrophysiology	2186	BPTF	ORPHA:529962
HP:0030956	Abnormality of cardiovascular system electrophysiology	4702	NDUFA8	OMIM:619272
HP:0030956	Abnormality of cardiovascular system electrophysiology	9997	SCO2	OMIM:604377
HP:0030956	Abnormality of cardiovascular system electrophysiology	51422	PRKAG2	OMIM:261740
HP:0030956	Abnormality of cardiovascular system electrophysiology	151648	SGO1	OMIM:616201
HP:0030956	Abnormality of cardiovascular system electrophysiology	5626	PROP1	ORPHA:226307
HP:0030956	Abnormality of cardiovascular system electrophysiology	89884	LHX4	ORPHA:226307
HP:0030956	Abnormality of cardiovascular system electrophysiology	8022	LHX3	ORPHA:226307
HP:0030956	Abnormality of cardiovascular system electrophysiology	5449	POU1F1	ORPHA:226307
HP:0030956	Abnormality of cardiovascular system electrophysiology	8820	HESX1	ORPHA:226307
HP:0030956	Abnormality of cardiovascular system electrophysiology	2632	GBE1	OMIM:232500
HP:0030956	Abnormality of cardiovascular system electrophysiology	79188	TMEM43	OMIM:614302
HP:0030956	Abnormality of cardiovascular system electrophysiology	3458	IFNG	OMIM:613254
HP:0030956	Abnormality of cardiovascular system electrophysiology	7249	TSC2	OMIM:613254
HP:0030956	Abnormality of cardiovascular system electrophysiology	25821	MTO1	OMIM:614702
HP:0030956	Abnormality of cardiovascular system electrophysiology	3909	LAMA3	ORPHA:79404
HP:0030956	Abnormality of cardiovascular system electrophysiology	3918	LAMC2	ORPHA:79404
HP:0030956	Abnormality of cardiovascular system electrophysiology	3914	LAMB3	ORPHA:79404
HP:0030956	Abnormality of cardiovascular system electrophysiology	7849	PAX8	OMIM:218700
HP:0030956	Abnormality of cardiovascular system electrophysiology	6341	SCO1	OMIM:619048
HP:0030956	Abnormality of cardiovascular system electrophysiology	4695	NDUFA2	OMIM:618235
HP:0030956	Abnormality of cardiovascular system electrophysiology	51601	LIPT1	OMIM:616299
HP:0030956	Abnormality of cardiovascular system electrophysiology	27068	PPA2	OMIM:617222
HP:0030956	Abnormality of cardiovascular system electrophysiology	30008	EFEMP2	OMIM:614437
HP:0030956	Abnormality of cardiovascular system electrophysiology	7252	TSHB	ORPHA:90674
HP:0030956	Abnormality of cardiovascular system electrophysiology	95	ACY1	OMIM:609924
HP:0030956	Abnormality of cardiovascular system electrophysiology	84340	GFM2	ORPHA:565624
HP:0030956	Abnormality of cardiovascular system electrophysiology	11274	USP18	OMIM:617397
HP:0030956	Abnormality of cardiovascular system electrophysiology	2902	GRIN1	OMIM:619814
HP:0030956	Abnormality of cardiovascular system electrophysiology	405753	DUOXA2	ORPHA:95716
HP:0030956	Abnormality of cardiovascular system electrophysiology	6528	SLC5A5	ORPHA:95716
HP:0030956	Abnormality of cardiovascular system electrophysiology	7038	TG	ORPHA:95716
HP:0030956	Abnormality of cardiovascular system electrophysiology	7173	TPO	ORPHA:95716
HP:0030956	Abnormality of cardiovascular system electrophysiology	389434	IYD	ORPHA:95716
HP:0030956	Abnormality of cardiovascular system electrophysiology	50506	DUOX2	ORPHA:95716
HP:0030956	Abnormality of cardiovascular system electrophysiology	4358	MPV17	OMIM:256810
HP:0030956	Abnormality of cardiovascular system electrophysiology	845	CASQ2	OMIM:611938
HP:0030956	Abnormality of cardiovascular system electrophysiology	4635	MYL4	OMIM:617280
HP:0030956	Abnormality of cardiovascular system electrophysiology	7386	UQCRFS1	OMIM:618775
HP:0030956	Abnormality of cardiovascular system electrophysiology	1892	ECHS1	OMIM:616277
HP:0030956	Abnormality of cardiovascular system electrophysiology	132158	GLYCTK	OMIM:220120
HP:0030956	Abnormality of cardiovascular system electrophysiology	51117	COQ4	OMIM:616276
HP:0030956	Abnormality of cardiovascular system electrophysiology	57017	COQ9	OMIM:614654
HP:0030956	Abnormality of cardiovascular system electrophysiology	27429	HTRA2	OMIM:617248
HP:0030956	Abnormality of cardiovascular system electrophysiology	221927	BRAT1	OMIM:614498
HP:0030956	Abnormality of cardiovascular system electrophysiology	2752	GLUL	OMIM:610015
HP:0030956	Abnormality of cardiovascular system electrophysiology	6508	SLC4A3	ORPHA:51083
HP:0030956	Abnormality of cardiovascular system electrophysiology	1717	DHCR7	OMIM:270400
HP:0030956	Abnormality of cardiovascular system electrophysiology	189	AGXT	OMIM:259900
HP:0030956	Abnormality of cardiovascular system electrophysiology	4313	MMP2	ORPHA:371428
HP:0030956	Abnormality of cardiovascular system electrophysiology	4323	MMP14	ORPHA:371428
HP:0030956	Abnormality of cardiovascular system electrophysiology	826	CAPNS1	OMIM:620777
HP:0030956	Abnormality of cardiovascular system electrophysiology	283446	MYO1H	OMIM:619482
HP:0030956	Abnormality of cardiovascular system electrophysiology	341208	HEPHL1	OMIM:261990
HP:0030956	Abnormality of cardiovascular system electrophysiology	3155	HMGCL	ORPHA:20
HP:0030956	Abnormality of cardiovascular system electrophysiology	3155	HMGCL	OMIM:246450
HP:0030956	Abnormality of cardiovascular system electrophysiology	253017	TECRL	OMIM:614021
HP:0030956	Abnormality of cardiovascular system electrophysiology	253017	TECRL	ORPHA:3286
HP:0030956	Abnormality of cardiovascular system electrophysiology	1861	TOR1A	OMIM:618947
HP:0030956	Abnormality of cardiovascular system electrophysiology	81031	SLC2A10	ORPHA:3342
HP:0030956	Abnormality of cardiovascular system electrophysiology	6182	MRPL12	OMIM:618951
HP:0030956	Abnormality of cardiovascular system electrophysiology	25782	RAB3GAP2	OMIM:212720
HP:0030956	Abnormality of cardiovascular system electrophysiology	79989	IFT56	OMIM:619534
HP:0030956	Abnormality of cardiovascular system electrophysiology	708	C1QBP	OMIM:617713
HP:0030956	Abnormality of cardiovascular system electrophysiology	6262	RYR2	ORPHA:3286
HP:0030956	Abnormality of cardiovascular system electrophysiology	4634	MYL3	OMIM:608751
HP:0030956	Abnormality of cardiovascular system electrophysiology	54675	CRLS1	OMIM:620167
HP:0030956	Abnormality of cardiovascular system electrophysiology	55750	AGK	OMIM:212350
HP:0030956	Abnormality of cardiovascular system electrophysiology	57538	ALPK3	OMIM:618052
HP:0030956	Abnormality of cardiovascular system electrophysiology	2629	GBA1	ORPHA:77260
HP:0030956	Abnormality of cardiovascular system electrophysiology	5277	PIGA	OMIM:300868
HP:0030956	Abnormality of cardiovascular system electrophysiology	7046	TGFBR1	ORPHA:60030
HP:0030956	Abnormality of cardiovascular system electrophysiology	10526	IPO8	ORPHA:60030
HP:0030956	Abnormality of cardiovascular system electrophysiology	7048	TGFBR2	ORPHA:60030
HP:0030956	Abnormality of cardiovascular system electrophysiology	7042	TGFB2	ORPHA:60030
HP:0030956	Abnormality of cardiovascular system electrophysiology	7043	TGFB3	ORPHA:60030
HP:0030956	Abnormality of cardiovascular system electrophysiology	4087	SMAD2	ORPHA:60030
HP:0030956	Abnormality of cardiovascular system electrophysiology	4088	SMAD3	ORPHA:60030
HP:0030956	Abnormality of cardiovascular system electrophysiology	144245	ALG10B	OMIM:613688
HP:0030956	Abnormality of cardiovascular system electrophysiology	50619	DEF6	OMIM:619573
HP:0030956	Abnormality of cardiovascular system electrophysiology	5593	PRKG2	OMIM:619636
HP:0030956	Abnormality of cardiovascular system electrophysiology	51103	NDUFAF1	OMIM:618234
HP:0030956	Abnormality of cardiovascular system electrophysiology	63931	MRPS14	OMIM:618378
HP:0030956	Abnormality of cardiovascular system electrophysiology	3714	JAG2	OMIM:619566
HP:0030956	Abnormality of cardiovascular system electrophysiology	96459	FNIP1	OMIM:619705
HP:0030956	Abnormality of cardiovascular system electrophysiology	7248	TSC1	OMIM:191100
HP:0030956	Abnormality of cardiovascular system electrophysiology	3741	KCNA5	OMIM:612240
HP:0030956	Abnormality of cardiovascular system electrophysiology	3741	KCNA5	ORPHA:334
HP:0030956	Abnormality of cardiovascular system electrophysiology	1837	DTNA	OMIM:604169
HP:0030956	Abnormality of cardiovascular system electrophysiology	1824	DSC2	OMIM:610476
HP:0030956	Abnormality of cardiovascular system electrophysiology	2702	GJA5	ORPHA:334
HP:0030956	Abnormality of cardiovascular system electrophysiology	3760	KCNJ3	ORPHA:334
HP:0030956	Abnormality of cardiovascular system electrophysiology	5308	PITX2	ORPHA:334
HP:0030956	Abnormality of cardiovascular system electrophysiology	140628	GATA5	ORPHA:334
HP:0030956	Abnormality of cardiovascular system electrophysiology	9631	NUP155	ORPHA:334
HP:0030956	Abnormality of cardiovascular system electrophysiology	4633	MYL2	OMIM:608758
HP:0030956	Abnormality of cardiovascular system electrophysiology	2642	GCGR	OMIM:619290
HP:0030956	Abnormality of cardiovascular system electrophysiology	1000	CDH2	OMIM:618920
HP:0030956	Abnormality of cardiovascular system electrophysiology	1788	DNMT3A	ORPHA:276621
HP:0030956	Abnormality of cardiovascular system electrophysiology	2034	EPAS1	ORPHA:276621
HP:0030956	Abnormality of cardiovascular system electrophysiology	2010	EMD	OMIM:310300
HP:0030956	Abnormality of cardiovascular system electrophysiology	84133	ZNRF3	ORPHA:1501
HP:0030956	Abnormality of cardiovascular system electrophysiology	7157	TP53	ORPHA:1501
HP:0030956	Abnormality of cardiovascular system electrophysiology	5573	PRKAR1A	ORPHA:1501
HP:0030956	Abnormality of cardiovascular system electrophysiology	1499	CTNNB1	ORPHA:1501
HP:0030956	Abnormality of cardiovascular system electrophysiology	1029	CDKN2A	ORPHA:1501
HP:0030956	Abnormality of cardiovascular system electrophysiology	7015	TERT	ORPHA:1501
HP:0030956	Abnormality of cardiovascular system electrophysiology	55863	TMEM126B	OMIM:618250
HP:0030956	Abnormality of cardiovascular system electrophysiology	64072	CDH23	ORPHA:91347
HP:0030956	Abnormality of cardiovascular system electrophysiology	1743	DLST	ORPHA:29072
HP:0030956	Abnormality of cardiovascular system electrophysiology	4191	MDH2	ORPHA:29072
HP:0030956	Abnormality of cardiovascular system electrophysiology	23095	KIF1B	ORPHA:29072
HP:0030956	Abnormality of cardiovascular system electrophysiology	2271	FH	ORPHA:29072
HP:0030956	Abnormality of cardiovascular system electrophysiology	8402	SLC25A11	ORPHA:29072
HP:0030956	Abnormality of cardiovascular system electrophysiology	54949	SDHAF2	ORPHA:29072
HP:0030956	Abnormality of cardiovascular system electrophysiology	4763	NF1	ORPHA:29072
HP:0030956	Abnormality of cardiovascular system electrophysiology	4221	MEN1	ORPHA:97279
HP:0030956	Abnormality of cardiovascular system electrophysiology	7528	YY1	ORPHA:97279
HP:0030956	Abnormality of cardiovascular system electrophysiology	171019	ADAMTS19	OMIM:620067
HP:0030956	Abnormality of cardiovascular system electrophysiology	2556	GABRA3	ORPHA:79102
HP:0030956	Abnormality of cardiovascular system electrophysiology	11149	POPDC1	OMIM:616812
HP:0030956	Abnormality of cardiovascular system electrophysiology	54800	KLHL24	OMIM:620236
HP:0030956	Abnormality of cardiovascular system electrophysiology	51778	MYOZ2	OMIM:613838
HP:0030956	Abnormality of cardiovascular system electrophysiology	23479	ISCU	OMIM:255125
HP:0030956	Abnormality of cardiovascular system electrophysiology	546	ATRX	ORPHA:100075
HP:0030956	Abnormality of cardiovascular system electrophysiology	1756	DMD	OMIM:300376
HP:0030956	Abnormality of cardiovascular system electrophysiology	1756	DMD	OMIM:310200
HP:0030956	Abnormality of cardiovascular system electrophysiology	1621	DBH	ORPHA:230
HP:0030956	Abnormality of cardiovascular system electrophysiology	2395	FXN	OMIM:229300
HP:0030956	Abnormality of cardiovascular system electrophysiology	2395	FXN	ORPHA:95
HP:0030956	Abnormality of cardiovascular system electrophysiology	22800	RRAS2	ORPHA:648
HP:0030956	Abnormality of cardiovascular system electrophysiology	867	CBL	ORPHA:648
HP:0030956	Abnormality of cardiovascular system electrophysiology	8216	LZTR1	ORPHA:648
HP:0030956	Abnormality of cardiovascular system electrophysiology	6016	RIT1	ORPHA:648
HP:0030956	Abnormality of cardiovascular system electrophysiology	6237	RRAS	ORPHA:648
HP:0030956	Abnormality of cardiovascular system electrophysiology	5894	RAF1	ORPHA:648
HP:0030956	Abnormality of cardiovascular system electrophysiology	22808	MRAS	ORPHA:648
HP:0030956	Abnormality of cardiovascular system electrophysiology	3845	KRAS	ORPHA:648
HP:0030956	Abnormality of cardiovascular system electrophysiology	200734	SPRED2	ORPHA:648
HP:0030956	Abnormality of cardiovascular system electrophysiology	4893	NRAS	ORPHA:648
HP:0030956	Abnormality of cardiovascular system electrophysiology	6654	SOS1	ORPHA:648
HP:0030956	Abnormality of cardiovascular system electrophysiology	6655	SOS2	ORPHA:648
HP:0030956	Abnormality of cardiovascular system electrophysiology	5781	PTPN11	ORPHA:648
HP:0030956	Abnormality of cardiovascular system electrophysiology	5922	RASA2	ORPHA:648
HP:0030956	Abnormality of cardiovascular system electrophysiology	128989	TANGO2	ORPHA:480864
HP:0030956	Abnormality of cardiovascular system electrophysiology	8291	DYSF	ORPHA:268
HP:0030956	Abnormality of cardiovascular system electrophysiology	1291	COL6A1	OMIM:158810
HP:0030956	Abnormality of cardiovascular system electrophysiology	7276	TTR	ORPHA:85451
HP:0030956	Abnormality of cardiovascular system electrophysiology	1825	DSC3	OMIM:613102
HP:0030956	Abnormality of cardiovascular system electrophysiology	4758	NEU1	ORPHA:93400
HP:0030956	Abnormality of cardiovascular system electrophysiology	60	ACTB	OMIM:620475
HP:0030956	Abnormality of cardiovascular system electrophysiology	1193	CLIC2	ORPHA:324410
HP:0030956	Abnormality of cardiovascular system electrophysiology	3777	KCNK3	OMIM:615344
HP:0030956	Abnormality of cardiovascular system electrophysiology	10699	CORIN	OMIM:620734
HP:0030956	Abnormality of cardiovascular system electrophysiology	284252	KCTD1	OMIM:181270
HP:0030956	Abnormality of cardiovascular system electrophysiology	80308	FLAD1	OMIM:255100
HP:0030956	Abnormality of cardiovascular system electrophysiology	3920	LAMP2	OMIM:300257
HP:0030956	Abnormality of cardiovascular system electrophysiology	10848	PPP1R13L	OMIM:620519
HP:0030956	Abnormality of cardiovascular system electrophysiology	29119	CTNNA3	OMIM:615616
HP:0030956	Abnormality of cardiovascular system electrophysiology	29967	LRP12	OMIM:164310
HP:0030956	Abnormality of cardiovascular system electrophysiology	23118	TAB2	OMIM:614980
HP:0030956	Abnormality of cardiovascular system electrophysiology	463	ZFHX3	OMIM:613055
HP:0030956	Abnormality of cardiovascular system electrophysiology	8076	MFAP5	OMIM:616166
HP:0030956	Abnormality of cardiovascular system electrophysiology	7504	XK	OMIM:300842
HP:0030956	Abnormality of cardiovascular system electrophysiology	353	APRT	ORPHA:976
HP:0030956	Abnormality of cardiovascular system electrophysiology	25792	CIZ1	ORPHA:420492
HP:0030956	Abnormality of cardiovascular system electrophysiology	1282	COL4A1	OMIM:611773
HP:0030956	Abnormality of cardiovascular system electrophysiology	2318	FLNC	ORPHA:75249
HP:0030956	Abnormality of cardiovascular system electrophysiology	10112	KIF20A	ORPHA:75249
HP:0030956	Abnormality of cardiovascular system electrophysiology	22947	DUX4L1	ORPHA:269
HP:0030956	Abnormality of cardiovascular system electrophysiology	1789	DNMT3B	ORPHA:269
HP:0030956	Abnormality of cardiovascular system electrophysiology	2483	FRG1	ORPHA:269
HP:0030956	Abnormality of cardiovascular system electrophysiology	23347	SMCHD1	ORPHA:269
HP:0030956	Abnormality of cardiovascular system electrophysiology	100288687	DUX4	ORPHA:269
HP:0030956	Abnormality of cardiovascular system electrophysiology	23345	SYNE1	ORPHA:98853
HP:0030956	Abnormality of cardiovascular system electrophysiology	801	CALM1	ORPHA:101016
HP:0030956	Abnormality of cardiovascular system electrophysiology	3762	KCNJ5	ORPHA:101016
HP:0030956	Abnormality of cardiovascular system electrophysiology	3762	KCNJ5	ORPHA:37553
HP:0030956	Abnormality of cardiovascular system electrophysiology	805	CALM2	ORPHA:101016
HP:0030956	Abnormality of cardiovascular system electrophysiology	6336	SCN10A	ORPHA:101016
HP:0030956	Abnormality of cardiovascular system electrophysiology	3757	KCNH2	ORPHA:101016
HP:0030956	Abnormality of cardiovascular system electrophysiology	9992	KCNE2	ORPHA:101016
HP:0030956	Abnormality of cardiovascular system electrophysiology	10142	AKAP9	ORPHA:101016
HP:0030956	Abnormality of cardiovascular system electrophysiology	9722	NOS1AP	ORPHA:101016
HP:0030956	Abnormality of cardiovascular system electrophysiology	775	CACNA1C	ORPHA:101016
HP:0030956	Abnormality of cardiovascular system electrophysiology	10345	TRDN	ORPHA:101016
HP:0030956	Abnormality of cardiovascular system electrophysiology	6330	SCN4B	ORPHA:101016
HP:0030956	Abnormality of cardiovascular system electrophysiology	808	CALM3	ORPHA:101016
HP:0030956	Abnormality of cardiovascular system electrophysiology	6640	SNTA1	ORPHA:101016
HP:0030956	Abnormality of cardiovascular system electrophysiology	287	ANK2	ORPHA:101016
HP:0030956	Abnormality of cardiovascular system electrophysiology	2972	BRF1	ORPHA:444072
HP:0030956	Abnormality of cardiovascular system electrophysiology	80067	DCAF17	OMIM:241080
HP:0030956	Abnormality of cardiovascular system electrophysiology	4204	MECP2	OMIM:312750
HP:0030956	Abnormality of cardiovascular system electrophysiology	6261	RYR1	ORPHA:466650
HP:0030956	Abnormality of cardiovascular system electrophysiology	1188	CLCNKB	ORPHA:358
HP:0030956	Abnormality of cardiovascular system electrophysiology	6559	SLC12A3	ORPHA:358
HP:0030956	Abnormality of cardiovascular system electrophysiology	3759	KCNJ2	ORPHA:37553
HP:0030956	Abnormality of cardiovascular system electrophysiology	246243	RNASEH1	ORPHA:329336
HP:0030956	Abnormality of cardiovascular system electrophysiology	644096	SDHAF1	ORPHA:3208
HP:0030956	Abnormality of cardiovascular system electrophysiology	2548	GAA	OMIM:232300
HP:0030956	Abnormality of cardiovascular system electrophysiology	2548	GAA	ORPHA:308552
HP:0030956	Abnormality of cardiovascular system electrophysiology	123263	MTFMT	OMIM:614947
HP:0030956	Abnormality of cardiovascular system electrophysiology	83475	DOHH	OMIM:620066
HP:0030956	Abnormality of cardiovascular system electrophysiology	2200	FBN1	ORPHA:3449
HP:0030956	Abnormality of cardiovascular system electrophysiology	170691	ADAMTS17	ORPHA:3449
HP:0030956	Abnormality of cardiovascular system electrophysiology	4053	LTBP2	ORPHA:3449
HP:0030956	Abnormality of cardiovascular system electrophysiology	81794	ADAMTS10	ORPHA:3449
HP:0030956	Abnormality of cardiovascular system electrophysiology	161742	SPRED1	ORPHA:137605
HP:0030956	Abnormality of cardiovascular system electrophysiology	10265	IRX5	OMIM:611174
HP:0030956	Abnormality of cardiovascular system electrophysiology	4784	NFIX	OMIM:602535
HP:0030956	Abnormality of cardiovascular system electrophysiology	26092	TOR1AIP1	OMIM:617072
HP:0030956	Abnormality of cardiovascular system electrophysiology	9681	DEPDC5	OMIM:620504
HP:0030956	Abnormality of cardiovascular system electrophysiology	1374	CPT1A	ORPHA:156
HP:0030956	Abnormality of cardiovascular system electrophysiology	1374	CPT1A	OMIM:255120
HP:0030956	Abnormality of cardiovascular system electrophysiology	26191	PTPN22	ORPHA:397
HP:0030956	Abnormality of cardiovascular system electrophysiology	26191	PTPN22	ORPHA:900
HP:0030956	Abnormality of cardiovascular system electrophysiology	3106	HLA-B	ORPHA:397
HP:0030956	Abnormality of cardiovascular system electrophysiology	3106	HLA-B	OMIM:106300
HP:0030956	Abnormality of cardiovascular system electrophysiology	3123	HLA-DRB1	ORPHA:397
HP:0030956	Abnormality of cardiovascular system electrophysiology	3123	HLA-DRB1	ORPHA:797
HP:0030956	Abnormality of cardiovascular system electrophysiology	8974	P4HA2	ORPHA:397
HP:0030956	Abnormality of cardiovascular system electrophysiology	6389	SDHA	ORPHA:154
HP:0030956	Abnormality of cardiovascular system electrophysiology	10486	CAP2	ORPHA:154
HP:0030956	Abnormality of cardiovascular system electrophysiology	7716	VEZF1	ORPHA:154
HP:0030956	Abnormality of cardiovascular system electrophysiology	10060	ABCC9	ORPHA:154
HP:0030956	Abnormality of cardiovascular system electrophysiology	7168	TPM1	ORPHA:154
HP:0030956	Abnormality of cardiovascular system electrophysiology	27063	ANKRD1	ORPHA:154
HP:0030956	Abnormality of cardiovascular system electrophysiology	1410	CRYAB	ORPHA:154
HP:0030956	Abnormality of cardiovascular system electrophysiology	439	GET3	ORPHA:154
HP:0030956	Abnormality of cardiovascular system electrophysiology	7273	TTN	ORPHA:154
HP:0030956	Abnormality of cardiovascular system electrophysiology	7273	TTN	OMIM:611705
HP:0030956	Abnormality of cardiovascular system electrophysiology	5350	PLN	ORPHA:154
HP:0030956	Abnormality of cardiovascular system electrophysiology	5664	PSEN2	ORPHA:154
HP:0030956	Abnormality of cardiovascular system electrophysiology	9529	BAG5	ORPHA:154
HP:0030956	Abnormality of cardiovascular system electrophysiology	4607	MYBPC3	ORPHA:154
HP:0030956	Abnormality of cardiovascular system electrophysiology	11155	LDB3	ORPHA:154
HP:0030956	Abnormality of cardiovascular system electrophysiology	2274	FHL2	ORPHA:154
HP:0030956	Abnormality of cardiovascular system electrophysiology	84665	MYPN	ORPHA:154
HP:0030956	Abnormality of cardiovascular system electrophysiology	1674	DES	ORPHA:154
HP:0030956	Abnormality of cardiovascular system electrophysiology	442721	LMOD2	ORPHA:154
HP:0030956	Abnormality of cardiovascular system electrophysiology	8557	TCAP	ORPHA:154
HP:0030956	Abnormality of cardiovascular system electrophysiology	57158	JPH2	ORPHA:154
HP:0030956	Abnormality of cardiovascular system electrophysiology	9015	TAF1A	ORPHA:154
HP:0030956	Abnormality of cardiovascular system electrophysiology	5663	PSEN1	ORPHA:154
HP:0030956	Abnormality of cardiovascular system electrophysiology	7112	TMPO	ORPHA:154
HP:0030956	Abnormality of cardiovascular system electrophysiology	9464	HAND2	ORPHA:154
HP:0030956	Abnormality of cardiovascular system electrophysiology	4625	MYH7	ORPHA:154
HP:0030956	Abnormality of cardiovascular system electrophysiology	4625	MYH7	ORPHA:1880
HP:0030956	Abnormality of cardiovascular system electrophysiology	4625	MYH7	OMIM:192600
HP:0030956	Abnormality of cardiovascular system electrophysiology	88	ACTN2	ORPHA:154
HP:0030956	Abnormality of cardiovascular system electrophysiology	7414	VCL	ORPHA:154
HP:0030956	Abnormality of cardiovascular system electrophysiology	1832	DSP	ORPHA:154
HP:0030956	Abnormality of cardiovascular system electrophysiology	70	ACTC1	ORPHA:154
HP:0030956	Abnormality of cardiovascular system electrophysiology	70	ACTC1	ORPHA:99103
HP:0030956	Abnormality of cardiovascular system electrophysiology	6123	RPL3L	ORPHA:154
HP:0030956	Abnormality of cardiovascular system electrophysiology	8048	CSRP3	ORPHA:154
HP:0030956	Abnormality of cardiovascular system electrophysiology	4000	LMNA	ORPHA:154
HP:0030956	Abnormality of cardiovascular system electrophysiology	4000	LMNA	OMIM:181350
HP:0030956	Abnormality of cardiovascular system electrophysiology	4000	LMNA	ORPHA:157973
HP:0030956	Abnormality of cardiovascular system electrophysiology	4000	LMNA	OMIM:616516
HP:0030956	Abnormality of cardiovascular system electrophysiology	4000	LMNA	ORPHA:168796
HP:0030956	Abnormality of cardiovascular system electrophysiology	7139	TNNT2	ORPHA:154
HP:0030956	Abnormality of cardiovascular system electrophysiology	1829	DSG2	ORPHA:154
HP:0030956	Abnormality of cardiovascular system electrophysiology	3910	LAMA4	ORPHA:154
HP:0030956	Abnormality of cardiovascular system electrophysiology	63976	PRDM16	ORPHA:154
HP:0030956	Abnormality of cardiovascular system electrophysiology	63976	PRDM16	OMIM:615373
HP:0030956	Abnormality of cardiovascular system electrophysiology	10587	TXNRD2	ORPHA:154
HP:0030956	Abnormality of cardiovascular system electrophysiology	9531	BAG3	ORPHA:154
HP:0030956	Abnormality of cardiovascular system electrophysiology	91624	NEXN	ORPHA:154
HP:0030956	Abnormality of cardiovascular system electrophysiology	79717	PPCS	ORPHA:154
HP:0030956	Abnormality of cardiovascular system electrophysiology	4624	MYH6	ORPHA:154
HP:0030956	Abnormality of cardiovascular system electrophysiology	4624	MYH6	OMIM:192600
HP:0030956	Abnormality of cardiovascular system electrophysiology	4624	MYH6	ORPHA:99103
HP:0030956	Abnormality of cardiovascular system electrophysiology	282996	RBM20	ORPHA:154
HP:0030956	Abnormality of cardiovascular system electrophysiology	7137	TNNI3	ORPHA:154
HP:0030956	Abnormality of cardiovascular system electrophysiology	6901	TAFAZZIN	ORPHA:154
HP:0030956	Abnormality of cardiovascular system electrophysiology	6901	TAFAZZIN	OMIM:302060
HP:0030956	Abnormality of cardiovascular system electrophysiology	22845	DOLK	ORPHA:154
HP:0030956	Abnormality of cardiovascular system electrophysiology	22845	DOLK	ORPHA:91131
HP:0030956	Abnormality of cardiovascular system electrophysiology	57798	GATAD1	ORPHA:154
HP:0030956	Abnormality of cardiovascular system electrophysiology	7134	TNNC1	ORPHA:154
HP:0030956	Abnormality of cardiovascular system electrophysiology	6444	SGCD	ORPHA:154
HP:0030956	Abnormality of cardiovascular system electrophysiology	6331	SCN5A	ORPHA:154
HP:0030956	Abnormality of cardiovascular system electrophysiology	6331	SCN5A	ORPHA:1344
HP:0030956	Abnormality of cardiovascular system electrophysiology	6331	SCN5A	ORPHA:871
HP:0030956	Abnormality of cardiovascular system electrophysiology	2218	FKTN	ORPHA:154
HP:0030956	Abnormality of cardiovascular system electrophysiology	26235	FBXL4	OMIM:615471
HP:0030956	Abnormality of cardiovascular system electrophysiology	7148	TNXB	ORPHA:230839
HP:0030956	Abnormality of cardiovascular system electrophysiology	652	BMP4	ORPHA:828
HP:0030956	Abnormality of cardiovascular system electrophysiology	148738	HJV	OMIM:602390
HP:0030956	Abnormality of cardiovascular system electrophysiology	54968	TMEM70	ORPHA:1194
HP:0030956	Abnormality of cardiovascular system electrophysiology	54968	TMEM70	OMIM:614052
HP:0030956	Abnormality of cardiovascular system electrophysiology	2314	FLII	ORPHA:819
HP:0030956	Abnormality of cardiovascular system electrophysiology	23096	IQSEC2	ORPHA:819
HP:0030956	Abnormality of cardiovascular system electrophysiology	10743	RAI1	ORPHA:819
HP:0030956	Abnormality of cardiovascular system electrophysiology	10522	DEAF1	ORPHA:819
HP:0030956	Abnormality of cardiovascular system electrophysiology	23384	SPECC1L	ORPHA:1519
HP:0030956	Abnormality of cardiovascular system electrophysiology	1161	ERCC8	OMIM:216400
HP:0030956	Abnormality of cardiovascular system electrophysiology	30061	SLC40A1	OMIM:606069
HP:0030956	Abnormality of cardiovascular system electrophysiology	3908	LAMA2	ORPHA:258
HP:0030956	Abnormality of cardiovascular system electrophysiology	6926	TBX3	ORPHA:3138
HP:0030956	Abnormality of cardiovascular system electrophysiology	6926	TBX3	OMIM:181450
HP:0030956	Abnormality of cardiovascular system electrophysiology	54795	TRPM4	OMIM:604559
HP:0030956	Abnormality of cardiovascular system electrophysiology	54795	TRPM4	OMIM:618531
HP:0030956	Abnormality of cardiovascular system electrophysiology	54795	TRPM4	ORPHA:871
HP:0030956	Abnormality of cardiovascular system electrophysiology	7259	TSPYL1	ORPHA:168593
HP:0030956	Abnormality of cardiovascular system electrophysiology	4574	MT-TS1	OMIM:540000
HP:0030956	Abnormality of cardiovascular system electrophysiology	4575	MT-TS2	OMIM:540000
HP:0030956	Abnormality of cardiovascular system electrophysiology	4535	MT-ND1	OMIM:540000
HP:0030956	Abnormality of cardiovascular system electrophysiology	4535	MT-ND1	ORPHA:104
HP:0030956	Abnormality of cardiovascular system electrophysiology	4535	MT-ND1	OMIM:535000
HP:0030956	Abnormality of cardiovascular system electrophysiology	4567	MT-TL1	OMIM:540000
HP:0030956	Abnormality of cardiovascular system electrophysiology	4512	MT-CO1	OMIM:540000
HP:0030956	Abnormality of cardiovascular system electrophysiology	4512	MT-CO1	ORPHA:104
HP:0030956	Abnormality of cardiovascular system electrophysiology	4512	MT-CO1	ORPHA:99845
HP:0030956	Abnormality of cardiovascular system electrophysiology	4513	MT-CO2	OMIM:540000
HP:0030956	Abnormality of cardiovascular system electrophysiology	4514	MT-CO3	OMIM:540000
HP:0030956	Abnormality of cardiovascular system electrophysiology	4514	MT-CO3	ORPHA:104
HP:0030956	Abnormality of cardiovascular system electrophysiology	4514	MT-CO3	ORPHA:99845
HP:0030956	Abnormality of cardiovascular system electrophysiology	4514	MT-CO3	OMIM:535000
HP:0030956	Abnormality of cardiovascular system electrophysiology	4519	MT-CYB	OMIM:540000
HP:0030956	Abnormality of cardiovascular system electrophysiology	4519	MT-CYB	ORPHA:104
HP:0030956	Abnormality of cardiovascular system electrophysiology	4519	MT-CYB	OMIM:535000
HP:0030956	Abnormality of cardiovascular system electrophysiology	4511	MT-TC	OMIM:540000
HP:0030956	Abnormality of cardiovascular system electrophysiology	4572	MT-TQ	OMIM:540000
HP:0030956	Abnormality of cardiovascular system electrophysiology	4577	MT-TV	OMIM:540000
HP:0030956	Abnormality of cardiovascular system electrophysiology	4578	MT-TW	OMIM:540000
HP:0030956	Abnormality of cardiovascular system electrophysiology	4558	MT-TF	OMIM:540000
HP:0030956	Abnormality of cardiovascular system electrophysiology	4566	MT-TK	OMIM:540000
HP:0030956	Abnormality of cardiovascular system electrophysiology	4540	MT-ND5	OMIM:540000
HP:0030956	Abnormality of cardiovascular system electrophysiology	4540	MT-ND5	ORPHA:104
HP:0030956	Abnormality of cardiovascular system electrophysiology	4540	MT-ND5	OMIM:535000
HP:0030956	Abnormality of cardiovascular system electrophysiology	4541	MT-ND6	OMIM:540000
HP:0030956	Abnormality of cardiovascular system electrophysiology	4541	MT-ND6	ORPHA:104
HP:0030956	Abnormality of cardiovascular system electrophysiology	4541	MT-ND6	OMIM:535000
HP:0030956	Abnormality of cardiovascular system electrophysiology	2273	FHL1	OMIM:300696
HP:0030956	Abnormality of cardiovascular system electrophysiology	8929	PHOX2B	ORPHA:2151
HP:0030956	Abnormality of cardiovascular system electrophysiology	4509	MT-ATP8	ORPHA:254913
HP:0030956	Abnormality of cardiovascular system electrophysiology	514	ATP5F1E	ORPHA:254913
HP:0030956	Abnormality of cardiovascular system electrophysiology	513	ATP5F1D	ORPHA:254913
HP:0030956	Abnormality of cardiovascular system electrophysiology	498	ATP5F1A	ORPHA:254913
HP:0030956	Abnormality of cardiovascular system electrophysiology	4508	MT-ATP6	ORPHA:254913
HP:0030956	Abnormality of cardiovascular system electrophysiology	4508	MT-ATP6	ORPHA:104
HP:0030956	Abnormality of cardiovascular system electrophysiology	4508	MT-ATP6	OMIM:535000
HP:0030956	Abnormality of cardiovascular system electrophysiology	84833	ATP5MK	ORPHA:254913
HP:0030956	Abnormality of cardiovascular system electrophysiology	91647	ATPAF2	ORPHA:254913
HP:0030956	Abnormality of cardiovascular system electrophysiology	3423	IDS	ORPHA:217085
HP:0030956	Abnormality of cardiovascular system electrophysiology	3423	IDS	ORPHA:217093
HP:0030956	Abnormality of cardiovascular system electrophysiology	83550	GPR101	ORPHA:963
HP:0030956	Abnormality of cardiovascular system electrophysiology	9049	AIP	ORPHA:963
HP:0030956	Abnormality of cardiovascular system electrophysiology	2697	GJA1	ORPHA:2710
HP:0030956	Abnormality of cardiovascular system electrophysiology	2697	GJA1	OMIM:164200
HP:0030956	Abnormality of cardiovascular system electrophysiology	222663	SCUBE3	OMIM:619184
HP:0030956	Abnormality of cardiovascular system electrophysiology	7274	TTPA	ORPHA:96
HP:0030956	Abnormality of cardiovascular system electrophysiology	2992	GYG1	ORPHA:263297
HP:0030956	Abnormality of cardiovascular system electrophysiology	7156	TOP3A	OMIM:618098
HP:0030956	Abnormality of cardiovascular system electrophysiology	11232	POLG2	OMIM:610131
HP:0030956	Abnormality of cardiovascular system electrophysiology	11232	POLG2	ORPHA:254892
HP:0030956	Abnormality of cardiovascular system electrophysiology	221496	LEMD2	OMIM:212500
HP:0030956	Abnormality of cardiovascular system electrophysiology	3265	HRAS	OMIM:218040
HP:0030956	Abnormality of cardiovascular system electrophysiology	3265	HRAS	ORPHA:2874
HP:0030956	Abnormality of cardiovascular system electrophysiology	788	SLC25A20	ORPHA:159
HP:0030956	Abnormality of cardiovascular system electrophysiology	3043	HBB	ORPHA:231214
HP:0030956	Abnormality of cardiovascular system electrophysiology	3043	HBB	ORPHA:231226
HP:0030956	Abnormality of cardiovascular system electrophysiology	54539	NDUFB11	OMIM:309801
HP:0030956	Abnormality of cardiovascular system electrophysiology	54539	NDUFB11	ORPHA:2556
HP:0030956	Abnormality of cardiovascular system electrophysiology	1349	COX7B	OMIM:309801
HP:0030956	Abnormality of cardiovascular system electrophysiology	1349	COX7B	ORPHA:2556
HP:0030956	Abnormality of cardiovascular system electrophysiology	3052	HCCS	OMIM:309801
HP:0030956	Abnormality of cardiovascular system electrophysiology	3052	HCCS	ORPHA:2556
HP:0030956	Abnormality of cardiovascular system electrophysiology	5290	PIK3CA	ORPHA:60040
HP:0030956	Abnormality of cardiovascular system electrophysiology	7454	WAS	ORPHA:906
HP:0030956	Abnormality of cardiovascular system electrophysiology	7456	WIPF1	ORPHA:906
HP:0030956	Abnormality of cardiovascular system electrophysiology	773	CACNA1A	ORPHA:2131
HP:0030956	Abnormality of cardiovascular system electrophysiology	6507	SLC1A3	ORPHA:2131
HP:0030956	Abnormality of cardiovascular system electrophysiology	477	ATP1A2	ORPHA:2131
HP:0030956	Abnormality of cardiovascular system electrophysiology	478	ATP1A3	ORPHA:2131
HP:0030956	Abnormality of cardiovascular system electrophysiology	5189	PEX1	ORPHA:3220
HP:0030956	Abnormality of cardiovascular system electrophysiology	5189	PEX1	ORPHA:772
HP:0030956	Abnormality of cardiovascular system electrophysiology	5190	PEX6	ORPHA:3220
HP:0030956	Abnormality of cardiovascular system electrophysiology	5190	PEX6	ORPHA:772
HP:0030956	Abnormality of cardiovascular system electrophysiology	1493	CTLA4	ORPHA:900
HP:0030956	Abnormality of cardiovascular system electrophysiology	3115	HLA-DPB1	ORPHA:900
HP:0030956	Abnormality of cardiovascular system electrophysiology	5657	PRTN3	ORPHA:900
HP:0030956	Abnormality of cardiovascular system electrophysiology	3113	HLA-DPA1	ORPHA:900
HP:0030956	Abnormality of cardiovascular system electrophysiology	84277	DNAJC30	ORPHA:104
HP:0030956	Abnormality of cardiovascular system electrophysiology	4536	MT-ND2	ORPHA:104
HP:0030956	Abnormality of cardiovascular system electrophysiology	4536	MT-ND2	OMIM:535000
HP:0030956	Abnormality of cardiovascular system electrophysiology	4538	MT-ND4	ORPHA:104
HP:0030956	Abnormality of cardiovascular system electrophysiology	4538	MT-ND4	OMIM:535000
HP:0030956	Abnormality of cardiovascular system electrophysiology	4720	NDUFS2	ORPHA:104
HP:0030956	Abnormality of cardiovascular system electrophysiology	4539	MT-ND4L	ORPHA:104
HP:0030956	Abnormality of cardiovascular system electrophysiology	4539	MT-ND4L	OMIM:535000
HP:0030956	Abnormality of cardiovascular system electrophysiology	92667	MGME1	ORPHA:352447
HP:0030956	Abnormality of cardiovascular system electrophysiology	92667	MGME1	OMIM:615084
HP:0030956	Abnormality of cardiovascular system electrophysiology	4210	MEFV	ORPHA:342
HP:0030956	Abnormality of cardiovascular system electrophysiology	4247	MGAT2	ORPHA:79329
HP:0030956	Abnormality of cardiovascular system electrophysiology	2934	GSN	ORPHA:85448
HP:0030956	Abnormality of cardiovascular system electrophysiology	84033	OBSCN	ORPHA:99845
HP:0030956	Abnormality of cardiovascular system electrophysiology	23175	LPIN1	ORPHA:99845
HP:0030956	Abnormality of cardiovascular system electrophysiology	34	ACADM	ORPHA:42
HP:0030956	Abnormality of cardiovascular system electrophysiology	2717	GLA	OMIM:301500
HP:0030956	Abnormality of cardiovascular system electrophysiology	2717	GLA	ORPHA:324
HP:0030956	Abnormality of cardiovascular system electrophysiology	654	BMP6	ORPHA:465508
HP:0030956	Abnormality of cardiovascular system electrophysiology	3077	HFE	ORPHA:465508
HP:0030956	Abnormality of cardiovascular system electrophysiology	3077	HFE	OMIM:235200
HP:0030956	Abnormality of cardiovascular system electrophysiology	51567	TDP2	OMIM:616949
HP:0030956	Abnormality of cardiovascular system electrophysiology	2303	FOXC2	ORPHA:33001
HP:0030956	Abnormality of cardiovascular system electrophysiology	2303	FOXC2	OMIM:153400
HP:0030956	Abnormality of cardiovascular system electrophysiology	3339	HSPG2	ORPHA:800
HP:0030956	Abnormality of cardiovascular system electrophysiology	226	ALDOA	ORPHA:57
HP:0030956	Abnormality of cardiovascular system electrophysiology	26100	WIPI2	OMIM:618453
HP:0030956	Abnormality of cardiovascular system electrophysiology	2719	GPC3	OMIM:312870
HP:0030956	Abnormality of cardiovascular system electrophysiology	2239	GPC4	OMIM:312870
HP:0030956	Abnormality of cardiovascular system electrophysiology	54332	GDAP1	ORPHA:99944
HP:0030956	Abnormality of cardiovascular system electrophysiology	78987	CRELD1	OMIM:620771
HP:0030956	Abnormality of cardiovascular system electrophysiology	8260	NAA10	ORPHA:276432
HP:0030956	Abnormality of cardiovascular system electrophysiology	8260	NAA10	OMIM:300855
HP:0030956	Abnormality of cardiovascular system electrophysiology	2879	GPX4	OMIM:250220
HP:0030956	Abnormality of cardiovascular system electrophysiology	2879	GPX4	ORPHA:93317
HP:0030956	Abnormality of cardiovascular system electrophysiology	435	ASL	ORPHA:23
HP:0030956	Abnormality of cardiovascular system electrophysiology	291	SLC25A4	ORPHA:254892
HP:0030956	Abnormality of cardiovascular system electrophysiology	5428	POLG	ORPHA:254892
HP:0030956	Abnormality of cardiovascular system electrophysiology	56652	TWNK	ORPHA:254892
HP:0030956	Abnormality of cardiovascular system electrophysiology	56652	TWNK	OMIM:609286
HP:0030956	Abnormality of cardiovascular system electrophysiology	50484	RRM2B	ORPHA:254892
HP:0030956	Abnormality of cardiovascular system electrophysiology	2074	ERCC6	OMIM:133540
HP:0030956	Abnormality of cardiovascular system electrophysiology	2767	GNA11	ORPHA:428
HP:0030956	Abnormality of cardiovascular system electrophysiology	846	CASR	ORPHA:428
HP:0030956	Abnormality of cardiovascular system electrophysiology	5095	PCCA	ORPHA:35
HP:0030956	Abnormality of cardiovascular system electrophysiology	5096	PCCB	ORPHA:35
HP:0030956	Abnormality of cardiovascular system electrophysiology	3712	IVD	ORPHA:33
HP:0030956	Abnormality of cardiovascular system electrophysiology	3728	JUP	OMIM:601214
HP:0030956	Abnormality of cardiovascular system electrophysiology	3728	JUP	ORPHA:34217
HP:0030956	Abnormality of cardiovascular system electrophysiology	57104	PNPLA2	ORPHA:565612
HP:0030956	Abnormality of cardiovascular system electrophysiology	5191	PEX7	OMIM:266500
HP:0030956	Abnormality of cardiovascular system electrophysiology	5264	PHYH	OMIM:266500
HP:0030956	Abnormality of cardiovascular system electrophysiology	23586	RIGI	OMIM:616298
HP:0030956	Abnormality of cardiovascular system electrophysiology	1482	NKX2-5	ORPHA:1479
HP:0030956	Abnormality of cardiovascular system electrophysiology	1482	NKX2-5	ORPHA:871
HP:0030956	Abnormality of cardiovascular system electrophysiology	1482	NKX2-5	ORPHA:99103
HP:0030956	Abnormality of cardiovascular system electrophysiology	10560	SLC19A2	OMIM:249270
HP:0030956	Abnormality of cardiovascular system electrophysiology	4878	NPPA	ORPHA:1344
HP:0030956	Abnormality of cardiovascular system electrophysiology	267010	RNU12	OMIM:620208
HP:0030956	Abnormality of cardiovascular system electrophysiology	6663	SOX10	ORPHA:163746
HP:0030956	Abnormality of cardiovascular system electrophysiology	2006	ELN	ORPHA:3193
HP:0030956	Abnormality of cardiovascular system electrophysiology	6329	SCN4A	ORPHA:682
HP:0030956	Abnormality of cardiovascular system electrophysiology	6329	SCN4A	ORPHA:681
HP:0030956	Abnormality of cardiovascular system electrophysiology	779	CACNA1S	ORPHA:681
HP:0030956	Abnormality of cardiovascular system electrophysiology	10008	KCNE3	ORPHA:681
HP:0030956	Abnormality of cardiovascular system electrophysiology	859	CAV3	OMIM:192600
HP:0030956	Abnormality of cardiovascular system electrophysiology	85366	MYLK2	OMIM:192600
HP:0030956	Abnormality of cardiovascular system electrophysiology	84705	GTPBP3	OMIM:616198
HP:0030956	Abnormality of cardiovascular system electrophysiology	57167	SALL4	ORPHA:2307
HP:0030956	Abnormality of cardiovascular system electrophysiology	56244	BTNL2	ORPHA:797
HP:0030956	Abnormality of cardiovascular system electrophysiology	650	BMP2	OMIM:235200
HP:0030956	Abnormality of cardiovascular system electrophysiology	650	BMP2	OMIM:617877
HP:0030956	Abnormality of cardiovascular system electrophysiology	6324	SCN1B	ORPHA:871
HP:0030956	Abnormality of cardiovascular system electrophysiology	7092	TLL1	ORPHA:99103
HP:0030956	Abnormality of cardiovascular system electrophysiology	57057	TBX20	ORPHA:99103
HP:0030956	Abnormality of cardiovascular system electrophysiology	10370	CITED2	ORPHA:99103
HP:0030956	Abnormality of cardiovascular system electrophysiology	2626	GATA4	ORPHA:99103
HP:0030956	Abnormality of cardiovascular system electrophysiology	2627	GATA6	ORPHA:99103
HP:0030956	Abnormality of cardiovascular system electrophysiology	3753	KCNE1	ORPHA:90647
HP:0030956	Abnormality of cardiovascular system electrophysiology	3784	KCNQ1	ORPHA:90647
HP:0030956	Abnormality of cardiovascular system electrophysiology	3032	HADHB	ORPHA:746
HP:0030956	Abnormality of cardiovascular system electrophysiology	3030	HADHA	ORPHA:746
HP:0030956	Abnormality of cardiovascular system electrophysiology	3030	HADHA	OMIM:609015
HP:0030956	Abnormality of cardiovascular system electrophysiology	673	BRAF	ORPHA:500
HP:0030956	Abnormality of cardiovascular system electrophysiology	2776	GNAQ	ORPHA:624
HP:0030956	Abnormality of cardiovascular system electrophysiology	6340	SCNN1G	ORPHA:171876
HP:0030956	Abnormality of cardiovascular system electrophysiology	6340	SCNN1G	ORPHA:526
HP:0030956	Abnormality of cardiovascular system electrophysiology	6337	SCNN1A	ORPHA:171876
HP:0030956	Abnormality of cardiovascular system electrophysiology	6337	SCNN1A	ORPHA:526
HP:0030956	Abnormality of cardiovascular system electrophysiology	6338	SCNN1B	ORPHA:171876
HP:0030956	Abnormality of cardiovascular system electrophysiology	6338	SCNN1B	ORPHA:526
HP:0030956	Abnormality of cardiovascular system electrophysiology	10681	GNB5	ORPHA:542306
HP:0030956	Abnormality of cardiovascular system electrophysiology	1180	CLCN1	ORPHA:614
HP:0030956	Abnormality of cardiovascular system electrophysiology	55670	PEX26	ORPHA:772
HP:0030956	Abnormality of cardiovascular system electrophysiology	5824	PEX19	ORPHA:772
HP:0030956	Abnormality of cardiovascular system electrophysiology	5828	PEX2	ORPHA:772
HP:0030956	Abnormality of cardiovascular system electrophysiology	8504	PEX3	ORPHA:772
HP:0030956	Abnormality of cardiovascular system electrophysiology	9409	PEX16	ORPHA:772
HP:0030956	Abnormality of cardiovascular system electrophysiology	8799	PEX11B	ORPHA:772
HP:0030956	Abnormality of cardiovascular system electrophysiology	5830	PEX5	ORPHA:772
HP:0030956	Abnormality of cardiovascular system electrophysiology	5193	PEX12	ORPHA:772
HP:0030956	Abnormality of cardiovascular system electrophysiology	5194	PEX13	ORPHA:772
HP:0030956	Abnormality of cardiovascular system electrophysiology	5195	PEX14	ORPHA:772
HP:0030956	Abnormality of cardiovascular system electrophysiology	5192	PEX10	ORPHA:772
HP:0030956	Abnormality of cardiovascular system electrophysiology	9759	HDAC4	OMIM:600430
HP:0030956	Abnormality of cardiovascular system electrophysiology	7428	VHL	ORPHA:892
HP:0030956	Abnormality of cardiovascular system electrophysiology	595	CCND1	ORPHA:892
HP:0030956	Abnormality of cardiovascular system electrophysiology	1376	CPT2	OMIM:608836
HP:0030956	Abnormality of cardiovascular system electrophysiology	1376	CPT2	ORPHA:228305
HP:0030956	Abnormality of cardiovascular system electrophysiology	1376	CPT2	ORPHA:228308
HP:0030956	Abnormality of cardiovascular system electrophysiology	37	ACADVL	ORPHA:26793
HP:0030956	Abnormality of cardiovascular system electrophysiology	23224	SYNE2	OMIM:612999
HP:0030956	Abnormality of cardiovascular system electrophysiology	5696	PSMB8	OMIM:256040
HP:0030956	Abnormality of cardiovascular system electrophysiology	7169	TPM2	ORPHA:171881
HP:0030956	Abnormality of cardiovascular system electrophysiology	7170	TPM3	ORPHA:171881
HP:0030956	Abnormality of cardiovascular system electrophysiology	8815	BANF1	OMIM:614008
HP:0030956	Abnormality of cardiovascular system electrophysiology	411	ARSB	OMIM:253200
HP:0030956	Abnormality of cardiovascular system electrophysiology	23395	LARS2	OMIM:617021
HP:0030956	Abnormality of cardiovascular system electrophysiology	1760	DMPK	ORPHA:589821
HP:0030956	Abnormality of cardiovascular system electrophysiology	5339	PLEC	ORPHA:254361
HP:0030956	Abnormality of cardiovascular system electrophysiology	128869	PIGU	OMIM:618590
HP:0030956	Abnormality of cardiovascular system electrophysiology	5500	PPP1CB	OMIM:617506
HP:0030956	Abnormality of cardiovascular system electrophysiology	56915	EXOSC5	OMIM:619576
HP:0030956	Abnormality of cardiovascular system electrophysiology	29954	POMT2	OMIM:613158
HP:0030956	Abnormality of cardiovascular system electrophysiology	29954	POMT2	ORPHA:206559
HP:0030956	Abnormality of cardiovascular system electrophysiology	529	ATP6V1E1	OMIM:617402
HP:0030956	Abnormality of cardiovascular system electrophysiology	1027	CDKN1B	ORPHA:652
HP:0030956	Abnormality of cardiovascular system electrophysiology	1026	CDKN1A	ORPHA:652
HP:0030956	Abnormality of cardiovascular system electrophysiology	1030	CDKN2B	ORPHA:652
HP:0030956	Abnormality of cardiovascular system electrophysiology	1031	CDKN2C	ORPHA:652
HP:0030956	Abnormality of cardiovascular system electrophysiology	79577	CDC73	ORPHA:143
HP:0030956	Abnormality of cardiovascular system electrophysiology	79577	CDC73	ORPHA:99880
HP:0030956	Abnormality of cardiovascular system electrophysiology	6023	RMRP	ORPHA:175
HP:0030956	Abnormality of cardiovascular system electrophysiology	8318	CDC45	OMIM:617063
HP:0030956	Abnormality of cardiovascular system electrophysiology	4035	LRP1	ORPHA:79100
HP:0030956	Abnormality of cardiovascular system electrophysiology	776	CACNA1D	OMIM:614896
HP:0030956	Abnormality of cardiovascular system electrophysiology	2783	GNB2	OMIM:619464
HP:0030956	Abnormality of cardiovascular system electrophysiology	6840	SVIL	OMIM:619040
HP:0030956	Abnormality of cardiovascular system electrophysiology	6288	SAA1	ORPHA:85445
HP:0030956	Abnormality of cardiovascular system electrophysiology	6910	TBX5	OMIM:142900
HP:0030956	Abnormality of cardiovascular system electrophysiology	4537	MT-ND3	ORPHA:255210
HP:0030956	Abnormality of cardiovascular system electrophysiology	57190	SELENON	ORPHA:97244
HP:0030956	Abnormality of cardiovascular system electrophysiology	58	ACTA1	ORPHA:97244
HP:0030956	Abnormality of cardiovascular system electrophysiology	4564	MT-TH	ORPHA:550
HP:0030956	Abnormality of cardiovascular system electrophysiology	1387	CREBBP	ORPHA:353281
HP:0030956	Abnormality of cardiovascular system electrophysiology	1387	CREBBP	ORPHA:353277
HP:0030956	Abnormality of cardiovascular system electrophysiology	2033	EP300	ORPHA:353284
HP:0030956	Abnormality of cardiovascular system electrophysiology	7555	CNBP	ORPHA:606
HP:0030956	Abnormality of cardiovascular system electrophysiology	10021	HCN4	OMIM:163800
HP:0030956	Abnormality of cardiovascular system electrophysiology	2260	FGFR1	ORPHA:220386
HP:0030956	Abnormality of cardiovascular system electrophysiology	2260	FGFR1	ORPHA:93924
HP:0030956	Abnormality of cardiovascular system electrophysiology	28514	DLL1	ORPHA:220386
HP:0030956	Abnormality of cardiovascular system electrophysiology	28514	DLL1	ORPHA:93926
HP:0030956	Abnormality of cardiovascular system electrophysiology	28514	DLL1	ORPHA:93924
HP:0030956	Abnormality of cardiovascular system electrophysiology	28514	DLL1	ORPHA:93925
HP:0030956	Abnormality of cardiovascular system electrophysiology	10735	STAG2	ORPHA:220386
HP:0030956	Abnormality of cardiovascular system electrophysiology	10735	STAG2	ORPHA:93925
HP:0030956	Abnormality of cardiovascular system electrophysiology	2253	FGF8	ORPHA:220386
HP:0030956	Abnormality of cardiovascular system electrophysiology	2253	FGF8	ORPHA:93926
HP:0030956	Abnormality of cardiovascular system electrophysiology	2253	FGF8	ORPHA:93924
HP:0030956	Abnormality of cardiovascular system electrophysiology	2253	FGF8	ORPHA:93925
HP:0030956	Abnormality of cardiovascular system electrophysiology	8243	SMC1A	ORPHA:220386
HP:0030956	Abnormality of cardiovascular system electrophysiology	6496	SIX3	ORPHA:220386
HP:0030956	Abnormality of cardiovascular system electrophysiology	6496	SIX3	ORPHA:93926
HP:0030956	Abnormality of cardiovascular system electrophysiology	6496	SIX3	ORPHA:93924
HP:0030956	Abnormality of cardiovascular system electrophysiology	6496	SIX3	ORPHA:93925
HP:0030956	Abnormality of cardiovascular system electrophysiology	7050	TGIF1	ORPHA:220386
HP:0030956	Abnormality of cardiovascular system electrophysiology	7050	TGIF1	ORPHA:93926
HP:0030956	Abnormality of cardiovascular system electrophysiology	7050	TGIF1	ORPHA:93924
HP:0030956	Abnormality of cardiovascular system electrophysiology	7050	TGIF1	ORPHA:93925
HP:0030956	Abnormality of cardiovascular system electrophysiology	4838	NODAL	ORPHA:220386
HP:0030956	Abnormality of cardiovascular system electrophysiology	4838	NODAL	ORPHA:93926
HP:0030956	Abnormality of cardiovascular system electrophysiology	4838	NODAL	ORPHA:93924
HP:0030956	Abnormality of cardiovascular system electrophysiology	4838	NODAL	ORPHA:93925
HP:0030956	Abnormality of cardiovascular system electrophysiology	6469	SHH	ORPHA:220386
HP:0030956	Abnormality of cardiovascular system electrophysiology	6469	SHH	ORPHA:93926
HP:0030956	Abnormality of cardiovascular system electrophysiology	6469	SHH	ORPHA:93924
HP:0030956	Abnormality of cardiovascular system electrophysiology	6469	SHH	ORPHA:93925
HP:0030956	Abnormality of cardiovascular system electrophysiology	7546	ZIC2	ORPHA:220386
HP:0030956	Abnormality of cardiovascular system electrophysiology	7546	ZIC2	ORPHA:93926
HP:0030956	Abnormality of cardiovascular system electrophysiology	7546	ZIC2	ORPHA:93924
HP:0030956	Abnormality of cardiovascular system electrophysiology	7546	ZIC2	ORPHA:93925
HP:0030956	Abnormality of cardiovascular system electrophysiology	6491	STIL	ORPHA:220386
HP:0030956	Abnormality of cardiovascular system electrophysiology	6491	STIL	ORPHA:93926
HP:0030956	Abnormality of cardiovascular system electrophysiology	6491	STIL	ORPHA:93924
HP:0030956	Abnormality of cardiovascular system electrophysiology	6491	STIL	ORPHA:93925
HP:0030956	Abnormality of cardiovascular system electrophysiology	2619	GAS1	ORPHA:220386
HP:0030956	Abnormality of cardiovascular system electrophysiology	2619	GAS1	ORPHA:93926
HP:0030956	Abnormality of cardiovascular system electrophysiology	2619	GAS1	ORPHA:93924
HP:0030956	Abnormality of cardiovascular system electrophysiology	2619	GAS1	ORPHA:93925
HP:0030956	Abnormality of cardiovascular system electrophysiology	84976	DISP1	ORPHA:220386
HP:0030956	Abnormality of cardiovascular system electrophysiology	84976	DISP1	ORPHA:93926
HP:0030956	Abnormality of cardiovascular system electrophysiology	84976	DISP1	ORPHA:93924
HP:0030956	Abnormality of cardiovascular system electrophysiology	84976	DISP1	ORPHA:93925
HP:0030956	Abnormality of cardiovascular system electrophysiology	2736	GLI2	ORPHA:220386
HP:0030956	Abnormality of cardiovascular system electrophysiology	2736	GLI2	ORPHA:93926
HP:0030956	Abnormality of cardiovascular system electrophysiology	2736	GLI2	ORPHA:93924
HP:0030956	Abnormality of cardiovascular system electrophysiology	2736	GLI2	ORPHA:93925
HP:0030956	Abnormality of cardiovascular system electrophysiology	8928	FOXH1	ORPHA:220386
HP:0030956	Abnormality of cardiovascular system electrophysiology	8928	FOXH1	ORPHA:93926
HP:0030956	Abnormality of cardiovascular system electrophysiology	8928	FOXH1	ORPHA:93924
HP:0030956	Abnormality of cardiovascular system electrophysiology	8928	FOXH1	ORPHA:93925
HP:0030956	Abnormality of cardiovascular system electrophysiology	6997	CRIPTO	ORPHA:220386
HP:0030956	Abnormality of cardiovascular system electrophysiology	6997	CRIPTO	ORPHA:93926
HP:0030956	Abnormality of cardiovascular system electrophysiology	6997	CRIPTO	ORPHA:93924
HP:0030956	Abnormality of cardiovascular system electrophysiology	6997	CRIPTO	ORPHA:93925
HP:0030956	Abnormality of cardiovascular system electrophysiology	5727	PTCH1	ORPHA:220386
HP:0030956	Abnormality of cardiovascular system electrophysiology	5727	PTCH1	ORPHA:93926
HP:0030956	Abnormality of cardiovascular system electrophysiology	5727	PTCH1	ORPHA:93924
HP:0030956	Abnormality of cardiovascular system electrophysiology	5727	PTCH1	ORPHA:93925
HP:0030956	Abnormality of cardiovascular system electrophysiology	50937	CDON	ORPHA:220386
HP:0030956	Abnormality of cardiovascular system electrophysiology	50937	CDON	ORPHA:93926
HP:0030956	Abnormality of cardiovascular system electrophysiology	50937	CDON	ORPHA:93924
HP:0030956	Abnormality of cardiovascular system electrophysiology	50937	CDON	ORPHA:93925
HP:0030956	Abnormality of cardiovascular system electrophysiology	23007	PLCH1	ORPHA:93925
HP:0030956	Abnormality of cardiovascular system electrophysiology	2581	GALC	ORPHA:206436
HP:0030956	Abnormality of cardiovascular system electrophysiology	5660	PSAP	ORPHA:206436
HP:0030956	Abnormality of cardiovascular system electrophysiology	8567	MADD	OMIM:619004
HP:0030956	Abnormality of cardiovascular system electrophysiology	8567	MADD	OMIM:619005
HP:0030956	Abnormality of cardiovascular system electrophysiology	5318	PKP2	OMIM:609040
HP:0001878	Hemolytic anemia	2811	GP1BA	OMIM:153670
HP:0001878	Hemolytic anemia	2235	FECH	OMIM:177000
HP:0001878	Hemolytic anemia	6521	SLC4A1	OMIM:185020
HP:0001878	Hemolytic anemia	6521	SLC4A1	OMIM:612653
HP:0001878	Hemolytic anemia	6521	SLC4A1	OMIM:166900
HP:0001878	Hemolytic anemia	6521	SLC4A1	OMIM:611590
HP:0001878	Hemolytic anemia	6521	SLC4A1	ORPHA:3202
HP:0001878	Hemolytic anemia	3783	KCNN4	OMIM:616689
HP:0001878	Hemolytic anemia	3783	KCNN4	ORPHA:3202
HP:0001878	Hemolytic anemia	7167	TPI1	OMIM:615512
HP:0001878	Hemolytic anemia	6513	SLC2A1	OMIM:612126
HP:0001878	Hemolytic anemia	6513	SLC2A1	OMIM:608885
HP:0001878	Hemolytic anemia	5238	PGM3	ORPHA:443811
HP:0001878	Hemolytic anemia	5238	PGM3	OMIM:615816
HP:0001878	Hemolytic anemia	3040	HBA2	OMIM:613978
HP:0001878	Hemolytic anemia	3039	HBA1	OMIM:613978
HP:0001878	Hemolytic anemia	7174	TPP2	ORPHA:444463
HP:0001878	Hemolytic anemia	959	CD40LG	OMIM:308230
HP:0001878	Hemolytic anemia	6708	SPTA1	OMIM:130600
HP:0001878	Hemolytic anemia	6708	SPTA1	ORPHA:288
HP:0001878	Hemolytic anemia	6708	SPTA1	OMIM:266140
HP:0001878	Hemolytic anemia	6708	SPTA1	OMIM:270970
HP:0001878	Hemolytic anemia	3162	HMOX1	OMIM:614034
HP:0001878	Hemolytic anemia	8526	DGKE	OMIM:615008
HP:0001878	Hemolytic anemia	2729	GCLC	OMIM:230450
HP:0001878	Hemolytic anemia	2729	GCLC	ORPHA:33574
HP:0001878	Hemolytic anemia	2215	FCGR3B	ORPHA:536
HP:0001878	Hemolytic anemia	6775	STAT4	ORPHA:536
HP:0001878	Hemolytic anemia	3684	ITGAM	ORPHA:536
HP:0001878	Hemolytic anemia	3586	IL10	ORPHA:536
HP:0001878	Hemolytic anemia	221895	JAZF1	ORPHA:536
HP:0001878	Hemolytic anemia	11277	TREX1	ORPHA:536
HP:0001878	Hemolytic anemia	11277	TREX1	OMIM:152700
HP:0001878	Hemolytic anemia	7292	TNFSF4	ORPHA:536
HP:0001878	Hemolytic anemia	640	BLK	ORPHA:536
HP:0001878	Hemolytic anemia	720	C4A	ORPHA:536
HP:0001878	Hemolytic anemia	55024	BANK1	ORPHA:536
HP:0001878	Hemolytic anemia	3500	IGHG1	ORPHA:536
HP:0001878	Hemolytic anemia	3654	IRAK1	ORPHA:536
HP:0001878	Hemolytic anemia	1493	CTLA4	ORPHA:536
HP:0001878	Hemolytic anemia	1493	CTLA4	OMIM:152700
HP:0001878	Hemolytic anemia	26191	PTPN22	ORPHA:536
HP:0001878	Hemolytic anemia	26191	PTPN22	OMIM:152700
HP:0001878	Hemolytic anemia	1380	CR2	ORPHA:536
HP:0001878	Hemolytic anemia	1380	CR2	ORPHA:1572
HP:0001878	Hemolytic anemia	5133	PDCD1	ORPHA:536
HP:0001878	Hemolytic anemia	2113	ETS1	ORPHA:536
HP:0001878	Hemolytic anemia	2213	FCGR2B	ORPHA:536
HP:0001878	Hemolytic anemia	2213	FCGR2B	OMIM:152700
HP:0001878	Hemolytic anemia	10318	TNIP1	ORPHA:536
HP:0001878	Hemolytic anemia	7332	UBE2L3	ORPHA:536
HP:0001878	Hemolytic anemia	79932	KIAA0319L	ORPHA:536
HP:0001878	Hemolytic anemia	4204	MECP2	ORPHA:536
HP:0001878	Hemolytic anemia	3663	IRF5	ORPHA:536
HP:0001878	Hemolytic anemia	3123	HLA-DRB1	ORPHA:536
HP:0001878	Hemolytic anemia	3123	HLA-DRB1	ORPHA:797
HP:0001878	Hemolytic anemia	721	C4B	ORPHA:536
HP:0001878	Hemolytic anemia	1773	DNASE1	ORPHA:536
HP:0001878	Hemolytic anemia	1773	DNASE1	OMIM:152700
HP:0001878	Hemolytic anemia	51284	TLR7	ORPHA:536
HP:0001878	Hemolytic anemia	6696	SPP1	ORPHA:536
HP:0001878	Hemolytic anemia	54899	PXK	ORPHA:536
HP:0001878	Hemolytic anemia	7128	TNFAIP3	ORPHA:536
HP:0001878	Hemolytic anemia	7128	TNFAIP3	OMIM:616744
HP:0001878	Hemolytic anemia	6005	RHAG	OMIM:185000
HP:0001878	Hemolytic anemia	6005	RHAG	OMIM:268150
HP:0001878	Hemolytic anemia	6005	RHAG	ORPHA:3203
HP:0001878	Hemolytic anemia	6005	RHAG	ORPHA:71275
HP:0001878	Hemolytic anemia	2937	GSS	OMIM:231900
HP:0001878	Hemolytic anemia	2937	GSS	OMIM:266130
HP:0001878	Hemolytic anemia	3043	HBB	OMIM:603903
HP:0001878	Hemolytic anemia	3043	HBB	ORPHA:232
HP:0001878	Hemolytic anemia	103	ADAR	OMIM:615010
HP:0001878	Hemolytic anemia	50619	DEF6	OMIM:619573
HP:0001878	Hemolytic anemia	966	CD59	OMIM:612300
HP:0001878	Hemolytic anemia	7389	UROD	ORPHA:95159
HP:0001878	Hemolytic anemia	5277	PIGA	ORPHA:447
HP:0001878	Hemolytic anemia	2035	EPB41	ORPHA:288
HP:0001878	Hemolytic anemia	2035	EPB41	OMIM:611804
HP:0001878	Hemolytic anemia	2995	GYPC	ORPHA:288
HP:0001878	Hemolytic anemia	6710	SPTB	ORPHA:288
HP:0001878	Hemolytic anemia	6710	SPTB	OMIM:616649
HP:0001878	Hemolytic anemia	2623	GATA1	OMIM:314050
HP:0001878	Hemolytic anemia	2623	GATA1	OMIM:301083
HP:0001878	Hemolytic anemia	2623	GATA1	ORPHA:79277
HP:0001878	Hemolytic anemia	1371	CPOX	OMIM:618892
HP:0001878	Hemolytic anemia	79415	CYBC1	OMIM:618935
HP:0001878	Hemolytic anemia	10058	ABCB6	OMIM:609153
HP:0001878	Hemolytic anemia	23495	TNFRSF13B	ORPHA:1572
HP:0001878	Hemolytic anemia	4790	NFKB1	ORPHA:1572
HP:0001878	Hemolytic anemia	4791	NFKB2	ORPHA:1572
HP:0001878	Hemolytic anemia	115650	TNFRSF13C	ORPHA:1572
HP:0001878	Hemolytic anemia	8742	TNFSF12	ORPHA:1572
HP:0001878	Hemolytic anemia	930	CD19	ORPHA:1572
HP:0001878	Hemolytic anemia	29851	ICOS	ORPHA:1572
HP:0001878	Hemolytic anemia	931	MS4A1	ORPHA:1572
HP:0001878	Hemolytic anemia	975	CD81	ORPHA:1572
HP:0001878	Hemolytic anemia	359948	IRF2BP2	ORPHA:1572
HP:0001878	Hemolytic anemia	2783	GNB2	OMIM:619503
HP:0001878	Hemolytic anemia	5230	PGK1	ORPHA:713
HP:0001878	Hemolytic anemia	5230	PGK1	OMIM:300653
HP:0001878	Hemolytic anemia	56244	BTNL2	ORPHA:797
HP:0001878	Hemolytic anemia	6006	RHCE	OMIM:617970
HP:0001878	Hemolytic anemia	6006	RHCE	ORPHA:71275
HP:0001878	Hemolytic anemia	51604	PIGT	OMIM:615399
HP:0001878	Hemolytic anemia	540	ATP7B	ORPHA:905
HP:0001878	Hemolytic anemia	540	ATP7B	OMIM:277900
HP:0001878	Hemolytic anemia	2592	GALT	OMIM:230400
HP:0001878	Hemolytic anemia	7454	WAS	ORPHA:906
HP:0001878	Hemolytic anemia	7456	WIPF1	ORPHA:906
HP:0001878	Hemolytic anemia	1282	COL4A1	OMIM:175780
HP:0001878	Hemolytic anemia	286	ANK1	ORPHA:251066
HP:0001878	Hemolytic anemia	286	ANK1	OMIM:182900
HP:0001878	Hemolytic anemia	286410	ATP11C	OMIM:301015
HP:0001878	Hemolytic anemia	3931	LCAT	OMIM:245900
HP:0001878	Hemolytic anemia	100147744	RNU7-1	OMIM:619487
HP:0001878	Hemolytic anemia	4893	NRAS	OMIM:614470
HP:0001878	Hemolytic anemia	3845	KRAS	OMIM:614470
HP:0001878	Hemolytic anemia	374354	NHLRC2	OMIM:618278
HP:0001878	Hemolytic anemia	2038	EPB42	OMIM:612690
HP:0001878	Hemolytic anemia	3075	CFH	ORPHA:244242
HP:0001878	Hemolytic anemia	3426	CFI	ORPHA:244242
HP:0001878	Hemolytic anemia	4179	CD46	ORPHA:244242
HP:0001878	Hemolytic anemia	101101692	HELLPAR	ORPHA:244242
HP:0001878	Hemolytic anemia	64135	IFIH1	OMIM:615846
HP:0001878	Hemolytic anemia	64240	ABCG5	ORPHA:2882
HP:0001878	Hemolytic anemia	64241	ABCG8	ORPHA:2882
HP:0001878	Hemolytic anemia	7390	UROS	OMIM:263700
HP:0001878	Hemolytic anemia	7390	UROS	ORPHA:79277
HP:0001878	Hemolytic anemia	10661	KLF1	OMIM:613673
HP:0001878	Hemolytic anemia	210	ALAD	OMIM:612740
HP:0001878	Hemolytic anemia	5213	PFKM	OMIM:232800
HP:0001878	Hemolytic anemia	4683	NBN	ORPHA:647
HP:0001878	Hemolytic anemia	9780	PIEZO1	ORPHA:3202
HP:0001878	Hemolytic anemia	3081	HGD	ORPHA:56
HP:0001878	Hemolytic anemia	226	ALDOA	ORPHA:57
HP:0001878	Hemolytic anemia	51251	NT5C3A	OMIM:266120
HP:0001878	Hemolytic anemia	29071	C1GALT1C1	OMIM:301110
HP:0001878	Hemolytic anemia	146059	CDAN1	OMIM:224120
HP:0001878	Hemolytic anemia	2212	FCGR2A	OMIM:152700
HP:0001878	Hemolytic anemia	203	AK1	OMIM:612631
HP:0001878	Hemolytic anemia	3559	IL2RA	OMIM:606367
HP:0001878	Hemolytic anemia	6007	RHD	ORPHA:71275
HP:0001878	Hemolytic anemia	8085	KMT2D	OMIM:147920
HP:0001878	Hemolytic anemia	7403	KDM6A	OMIM:147920
HP:0001878	Hemolytic anemia	355	FAS	ORPHA:3261
HP:0001878	Hemolytic anemia	355	FAS	OMIM:601859
HP:0001878	Hemolytic anemia	356	FASLG	ORPHA:3261
HP:0001878	Hemolytic anemia	356	FASLG	OMIM:601859
HP:0001878	Hemolytic anemia	843	CASP10	ORPHA:3261
HP:0001878	Hemolytic anemia	843	CASP10	OMIM:603909
HP:0001878	Hemolytic anemia	6772	STAT1	ORPHA:391487
HP:0001878	Hemolytic anemia	6772	STAT1	OMIM:614162
HP:0001878	Hemolytic anemia	57217	TTC7A	OMIM:243150
HP:0001878	Hemolytic anemia	57217	TTC7A	ORPHA:436252
HP:0001878	Hemolytic anemia	3702	ITK	OMIM:613011
HP:0001878	Hemolytic anemia	6774	STAT3	OMIM:615952
HP:0001878	Hemolytic anemia	4860	PNP	OMIM:613179
HP:0001878	Hemolytic anemia	4860	PNP	ORPHA:760
HP:0001878	Hemolytic anemia	5580	PRKCD	OMIM:615559
HP:0001878	Hemolytic anemia	987	LRBA	OMIM:614700
HP:0001878	Hemolytic anemia	6789	STK4	OMIM:614868
HP:0001878	Hemolytic anemia	22861	NLRP1	OMIM:617388
HP:0001878	Hemolytic anemia	5294	PIK3CG	OMIM:619802
HP:0001878	Hemolytic anemia	917	CD3G	OMIM:615607
HP:0001878	Hemolytic anemia	868	CBLB	OMIM:620430
HP:0001878	Hemolytic anemia	5896	RAG1	ORPHA:231154
HP:0001878	Hemolytic anemia	5896	RAG1	ORPHA:331206
HP:0001878	Hemolytic anemia	5994	RFXAP	ORPHA:572
HP:0001878	Hemolytic anemia	4261	CIITA	ORPHA:572
HP:0001878	Hemolytic anemia	5993	RFX5	ORPHA:572
HP:0001878	Hemolytic anemia	8625	RFXANK	ORPHA:572
HP:0001878	Hemolytic anemia	8625	RFXANK	OMIM:620815
HP:0001878	Hemolytic anemia	139818	DOCK11	OMIM:301109
HP:0001878	Hemolytic anemia	3937	LCP2	OMIM:619374
HP:0001878	Hemolytic anemia	919	CD247	OMIM:610163
HP:0001878	Hemolytic anemia	100	ADA	OMIM:102700
HP:0001878	Hemolytic anemia	50943	FOXP3	ORPHA:37042
HP:0001878	Hemolytic anemia	5897	RAG2	ORPHA:331206
HP:0001878	Hemolytic anemia	6786	STIM1	OMIM:612783
HP:0001878	Hemolytic anemia	5297	PI4KA	ORPHA:436252
HP:0001878	Hemolytic anemia	4733	DRG1	OMIM:620641
HP:0001878	Hemolytic anemia	10092	ARPC5	OMIM:620565
HP:0001878	Hemolytic anemia	51311	TLR8	OMIM:301078
HP:0001878	Hemolytic anemia	56984	PSMG2	OMIM:619183
HP:0001878	Hemolytic anemia	28755	TRAC	OMIM:615387
HP:0001878	Hemolytic anemia	3560	IL2RB	OMIM:618495
HP:0001878	Hemolytic anemia	10125	RASGRP1	OMIM:618534
HP:0001878	Hemolytic anemia	7535	ZAP70	ORPHA:911
HP:0001878	Hemolytic anemia	54	ACP5	ORPHA:1855
HP:0001878	Hemolytic anemia	3098	HK1	OMIM:235700
HP:0001878	Hemolytic anemia	2821	GPI	OMIM:613470
HP:0001878	Hemolytic anemia	11093	ADAMTS13	OMIM:274150
HP:0001878	Hemolytic anemia	6303	SAT1	ORPHA:93552
HP:0001878	Hemolytic anemia	629	CFB	OMIM:612924
HP:0001878	Hemolytic anemia	7056	THBD	OMIM:612926
HP:0001878	Hemolytic anemia	10878	CFHR3	OMIM:235400
HP:0001878	Hemolytic anemia	3078	CFHR1	OMIM:235400
HP:0001878	Hemolytic anemia	718	C3	OMIM:612925
HP:0001878	Hemolytic anemia	6573	SLC19A1	OMIM:601775
HP:0001878	Hemolytic anemia	5313	PKLR	ORPHA:766
HP:0001878	Hemolytic anemia	8573	CASK	OMIM:300908
HP:0001878	Hemolytic anemia	2539	G6PD	OMIM:300908
HP:0001878	Hemolytic anemia	2936	GSR	OMIM:618660
HP:0001878	Hemolytic anemia	7293	TNFRSF4	OMIM:615593
HP:0001878	Hemolytic anemia	8651	SOCS1	OMIM:619375
HP:0001878	Hemolytic anemia	27040	LAT	OMIM:617514
HP:0001878	Hemolytic anemia	8456	FOXN1	ORPHA:83471
HP:0001878	Hemolytic anemia	2876	GPX1	OMIM:614164
HP:0004828	Refractory anemia with ringed sideroblasts	2065	ERBB3	OMIM:133180
HP:0004828	Refractory anemia with ringed sideroblasts	150274	HSCB	OMIM:619523
HP:0004828	Refractory anemia with ringed sideroblasts	3313	HSPA9	OMIM:182170
HP:0004828	Refractory anemia with ringed sideroblasts	54790	TET2	ORPHA:75564
HP:0004828	Refractory anemia with ringed sideroblasts	23451	SF3B1	ORPHA:75564
HP:0004826	Folate-unresponsive megaloblastic anemia	7372	UMPS	OMIM:258900
HP:0004823	Anisopoikilocytosis	3783	KCNN4	OMIM:616689
HP:0004823	Anisopoikilocytosis	790	CAD	OMIM:616457
HP:0004823	Anisopoikilocytosis	8029	CUBN	ORPHA:35858
HP:0004823	Anisopoikilocytosis	81693	AMN	ORPHA:35858
HP:0004823	Anisopoikilocytosis	9419	CRIPT	OMIM:615789
HP:0004823	Anisopoikilocytosis	81570	CLPB	OMIM:619835
HP:0004823	Anisopoikilocytosis	6309	SC5D	ORPHA:46059
HP:0004823	Anisopoikilocytosis	6309	SC5D	OMIM:607330
HP:0004823	Anisopoikilocytosis	3043	HBB	ORPHA:231214
HP:0004823	Anisopoikilocytosis	55240	STEAP3	ORPHA:300298
HP:0004823	Anisopoikilocytosis	80739	MPIG6B	OMIM:617441
HP:0004821	Hypersegmentation of neutrophil nuclei	10841	FTCD	OMIM:229100
HP:0004821	Hypersegmentation of neutrophil nuclei	119559	SFXN4	OMIM:615578
HP:0004821	Hypersegmentation of neutrophil nuclei	8029	CUBN	ORPHA:35858
HP:0004821	Hypersegmentation of neutrophil nuclei	81693	AMN	ORPHA:35858
HP:0004821	Hypersegmentation of neutrophil nuclei	6573	SLC19A1	OMIM:601775
HP:0004821	Hypersegmentation of neutrophil nuclei	4522	MTHFD1	OMIM:617780
HP:0025660	Chiari type II malformation	84667	HES7	OMIM:613686
HP:0025660	Chiari type II malformation	6309	SC5D	OMIM:607330
HP:0025662	Abnormal fetal skeletal morphology	57688	ZSWIM6	OMIM:603671
HP:0025662	Abnormal fetal skeletal morphology	168667	BMPER	OMIM:608022
HP:0025662	Abnormal fetal skeletal morphology	2261	FGFR3	OMIM:187600
HP:0025664	Moderate to late preterm birth	51163	DBR1	OMIM:620510
HP:0025664	Moderate to late preterm birth	440	ASNS	OMIM:615574
HP:0025664	Moderate to late preterm birth	51117	COQ4	OMIM:616276
HP:0000615	Abnormal pupil morphology	220202	ATOH7	OMIM:221900
HP:0000615	Abnormal pupil morphology	220202	ATOH7	ORPHA:91495
HP:0000615	Abnormal pupil morphology	3708	ITPR1	OMIM:117360
HP:0000615	Abnormal pupil morphology	26277	TINF2	OMIM:268130
HP:0000615	Abnormal pupil morphology	8322	FZD4	ORPHA:91495
HP:0000615	Abnormal pupil morphology	5925	RB1	OMIM:180200
HP:0000615	Abnormal pupil morphology	2767	GNA11	ORPHA:1556
HP:0000615	Abnormal pupil morphology	151188	ARL6IP6	ORPHA:1556
HP:0000615	Abnormal pupil morphology	57167	SALL4	ORPHA:233
HP:0000615	Abnormal pupil morphology	9935	MAFB	ORPHA:233
HP:0000615	Abnormal pupil morphology	1123	CHN1	ORPHA:233
HP:0000615	Abnormal pupil morphology	8943	AP3D1	ORPHA:54
HP:0000615	Abnormal pupil morphology	4935	GPR143	ORPHA:54
HP:0000615	Abnormal pupil morphology	1281	COL3A1	ORPHA:286
HP:0000615	Abnormal pupil morphology	5295	PIK3R1	ORPHA:3163
HP:0000615	Abnormal pupil morphology	9839	ZEB2	ORPHA:261552
HP:0000615	Abnormal pupil morphology	112802	KRT71	ORPHA:170
HP:0000615	Abnormal pupil morphology	121391	KRT74	ORPHA:170
HP:0000615	Abnormal pupil morphology	200879	LIPH	ORPHA:170
HP:0000615	Abnormal pupil morphology	10161	LPAR6	ORPHA:170
HP:0000615	Abnormal pupil morphology	147183	KRT25	ORPHA:170
HP:0000615	Abnormal pupil morphology	8929	PHOX2B	ORPHA:2151
HP:0000615	Abnormal pupil morphology	8518	ELP1	ORPHA:1764
HP:0000615	Abnormal pupil morphology	5376	PMP22	ORPHA:90658
HP:0000615	Abnormal pupil morphology	5728	PTEN	ORPHA:2969
HP:0000615	Abnormal pupil morphology	4693	NDP	ORPHA:649
HP:0000615	Abnormal pupil morphology	4952	OCRL	ORPHA:534
HP:0000615	Abnormal pupil morphology	6786	STIM1	OMIM:160565
HP:0000615	Abnormal pupil morphology	4359	MPZ	ORPHA:101082
HP:0000615	Abnormal pupil morphology	284252	KCTD1	OMIM:181270
HP:0000615	Abnormal pupil morphology	4016	LOXL1	OMIM:177650
HP:0000615	Abnormal pupil morphology	1656	DDX6	OMIM:618653
HP:0000615	Abnormal pupil morphology	91147	TMEM67	OMIM:613550
HP:0000615	Abnormal pupil morphology	29926	GMPPA	OMIM:615510
HP:0000615	Abnormal pupil morphology	55605	KIF21A	ORPHA:45358
HP:0000615	Abnormal pupil morphology	347733	TUBB2B	ORPHA:45358
HP:0000615	Abnormal pupil morphology	7846	TUBA1A	ORPHA:45358
HP:0000615	Abnormal pupil morphology	401	PHOX2A	ORPHA:45358
HP:0000615	Abnormal pupil morphology	10381	TUBB3	ORPHA:45358
HP:0000615	Abnormal pupil morphology	84570	COL25A1	ORPHA:45358
HP:0000615	Abnormal pupil morphology	79628	SH3TC2	ORPHA:99949
HP:0000615	Abnormal pupil morphology	25942	SIN3A	OMIM:613406
HP:0000615	Abnormal pupil morphology	8086	AAAS	OMIM:231550
HP:0000615	Abnormal pupil morphology	3265	HRAS	ORPHA:79414
HP:0000615	Abnormal pupil morphology	80781	COL18A1	OMIM:267750
HP:0000615	Abnormal pupil morphology	27151	CPAMD8	OMIM:617319
HP:0000615	Abnormal pupil morphology	54507	ADAMTSL4	OMIM:225200
HP:0000615	Abnormal pupil morphology	29954	POMT2	OMIM:613150
HP:0000615	Abnormal pupil morphology	80036	TRPM3	OMIM:620253
HP:0000615	Abnormal pupil morphology	2697	GJA1	OMIM:257850
HP:0000615	Abnormal pupil morphology	6909	TBX2	OMIM:618223
HP:0000615	Abnormal pupil morphology	2200	FBN1	ORPHA:1885
HP:0000615	Abnormal pupil morphology	6935	ZEB1	OMIM:609141
HP:0000615	Abnormal pupil morphology	6935	ZEB1	ORPHA:98973
HP:0000615	Abnormal pupil morphology	387	RHOA	OMIM:618727
HP:0000615	Abnormal pupil morphology	10586	MAB21L2	OMIM:615877
HP:0000615	Abnormal pupil morphology	1282	COL4A1	OMIM:175780
HP:0000615	Abnormal pupil morphology	5308	PITX2	OMIM:180500
HP:0000615	Abnormal pupil morphology	2296	FOXC1	OMIM:601631
HP:0000615	Abnormal pupil morphology	2296	FOXC1	OMIM:602482
HP:0000615	Abnormal pupil morphology	5130	PCYT1A	ORPHA:85167
HP:0000615	Abnormal pupil morphology	5130	PCYT1A	OMIM:608940
HP:0000615	Abnormal pupil morphology	79977	GRHL2	OMIM:618031
HP:0000615	Abnormal pupil morphology	79977	GRHL2	ORPHA:98973
HP:0000615	Abnormal pupil morphology	58495	OVOL2	OMIM:122000
HP:0000615	Abnormal pupil morphology	58495	OVOL2	ORPHA:98973
HP:0000615	Abnormal pupil morphology	7468	NSD2	OMIM:194190
HP:0000615	Abnormal pupil morphology	10815	CPLX1	OMIM:194190
HP:0000615	Abnormal pupil morphology	1487	CTBP1	OMIM:194190
HP:0000615	Abnormal pupil morphology	53834	FGFRL1	OMIM:194190
HP:0000615	Abnormal pupil morphology	3954	LETM1	OMIM:194190
HP:0000615	Abnormal pupil morphology	5080	PAX6	OMIM:106210
HP:0000615	Abnormal pupil morphology	7490	WT1	OMIM:106210
HP:0000615	Abnormal pupil morphology	30813	VSX1	ORPHA:98973
HP:0000615	Abnormal pupil morphology	1296	COL8A2	ORPHA:98973
HP:0000615	Abnormal pupil morphology	2670	GFAP	OMIM:203450
HP:0000615	Abnormal pupil morphology	5950	RBP4	OMIM:616428
HP:0000615	Abnormal pupil morphology	3913	LAMB2	OMIM:609049
HP:0000615	Abnormal pupil morphology	4796	TONSL	ORPHA:93357
HP:0030961	Microspherophakia	2200	FBN1	ORPHA:3449
HP:0030961	Microspherophakia	2200	FBN1	OMIM:608328
HP:0030961	Microspherophakia	2200	FBN1	OMIM:154700
HP:0030961	Microspherophakia	2200	FBN1	OMIM:129600
HP:0030961	Microspherophakia	170691	ADAMTS17	ORPHA:3449
HP:0030961	Microspherophakia	4053	LTBP2	ORPHA:3449
HP:0030961	Microspherophakia	4053	LTBP2	OMIM:614819
HP:0030961	Microspherophakia	4053	LTBP2	OMIM:251750
HP:0030961	Microspherophakia	81794	ADAMTS10	ORPHA:3449
HP:0030961	Microspherophakia	81794	ADAMTS10	OMIM:277600
HP:0030961	Microspherophakia	64121	RRAGC	OMIM:620609
HP:0030961	Microspherophakia	5080	PAX6	ORPHA:250923
HP:0030961	Microspherophakia	2296	FOXC1	ORPHA:250923
HP:0030961	Microspherophakia	54765	TRIM44	ORPHA:250923
HP:0030962	Abnormal morphology of the great vessels	5885	RAD21	OMIM:614701
HP:0030962	Abnormal morphology of the great vessels	7355	SLC35A2	ORPHA:356961
HP:0030962	Abnormal morphology of the great vessels	23414	ZFPM2	ORPHA:3303
HP:0030962	Abnormal morphology of the great vessels	23414	ZFPM2	OMIM:187500
HP:0030962	Abnormal morphology of the great vessels	3791	KDR	ORPHA:3303
HP:0030962	Abnormal morphology of the great vessels	8443	GNPAT	OMIM:222765
HP:0030962	Abnormal morphology of the great vessels	26275	HIBCH	ORPHA:88639
HP:0030962	Abnormal morphology of the great vessels	26275	HIBCH	OMIM:250620
HP:0030962	Abnormal morphology of the great vessels	29998	BICRA	OMIM:619325
HP:0030962	Abnormal morphology of the great vessels	83479	DDX59	OMIM:174300
HP:0030962	Abnormal morphology of the great vessels	83479	DDX59	ORPHA:2919
HP:0030962	Abnormal morphology of the great vessels	51684	SUFU	ORPHA:280200
HP:0030962	Abnormal morphology of the great vessels	1147	CHUK	OMIM:613630
HP:0030962	Abnormal morphology of the great vessels	9896	FIG4	ORPHA:3472
HP:0030962	Abnormal morphology of the great vessels	9896	FIG4	OMIM:216340
HP:0030962	Abnormal morphology of the great vessels	55697	VAC14	ORPHA:3472
HP:0030962	Abnormal morphology of the great vessels	7852	CXCR4	ORPHA:51636
HP:0030962	Abnormal morphology of the great vessels	8092	ALX1	ORPHA:306542
HP:0030962	Abnormal morphology of the great vessels	3579	CXCR2	OMIM:619407
HP:0030962	Abnormal morphology of the great vessels	2542	SLC37A4	OMIM:619525
HP:0030962	Abnormal morphology of the great vessels	9897	WASHC5	OMIM:220210
HP:0030962	Abnormal morphology of the great vessels	9897	WASHC5	ORPHA:7
HP:0030962	Abnormal morphology of the great vessels	10084	PQBP1	OMIM:309500
HP:0030962	Abnormal morphology of the great vessels	1663	DDX11	OMIM:613398
HP:0030962	Abnormal morphology of the great vessels	57020	VPS35L	ORPHA:7
HP:0030962	Abnormal morphology of the great vessels	56896	DPYSL5	ORPHA:7
HP:0030962	Abnormal morphology of the great vessels	257	ALX3	OMIM:136760
HP:0030962	Abnormal morphology of the great vessels	27152	INTU	OMIM:617925
HP:0030962	Abnormal morphology of the great vessels	27152	INTU	OMIM:617926
HP:0030962	Abnormal morphology of the great vessels	1718	DHCR24	OMIM:602398
HP:0030962	Abnormal morphology of the great vessels	1718	DHCR24	ORPHA:35107
HP:0030962	Abnormal morphology of the great vessels	26235	FBXL4	OMIM:615471
HP:0030962	Abnormal morphology of the great vessels	2132	EXT2	OMIM:616682
HP:0030962	Abnormal morphology of the great vessels	51126	NAA20	OMIM:619717
HP:0030962	Abnormal morphology of the great vessels	7021	TFAP2B	OMIM:169100
HP:0030962	Abnormal morphology of the great vessels	7021	TFAP2B	ORPHA:46627
HP:0030962	Abnormal morphology of the great vessels	7021	TFAP2B	OMIM:617035
HP:0030962	Abnormal morphology of the great vessels	2720	GLB1	OMIM:230600
HP:0030962	Abnormal morphology of the great vessels	1788	DNMT3A	ORPHA:404443
HP:0030962	Abnormal morphology of the great vessels	1131	CHRM3	ORPHA:2970
HP:0030962	Abnormal morphology of the great vessels	1131	CHRM3	OMIM:100100
HP:0030962	Abnormal morphology of the great vessels	9578	CDC42BPB	OMIM:619841
HP:0030962	Abnormal morphology of the great vessels	8942	KYNU	OMIM:617661
HP:0030962	Abnormal morphology of the great vessels	55790	CSGALNACT1	OMIM:618870
HP:0030962	Abnormal morphology of the great vessels	65082	VPS33A	OMIM:617303
HP:0030962	Abnormal morphology of the great vessels	65082	VPS33A	ORPHA:505248
HP:0030962	Abnormal morphology of the great vessels	55690	PACS1	OMIM:615009
HP:0030962	Abnormal morphology of the great vessels	55690	PACS1	ORPHA:329224
HP:0030962	Abnormal morphology of the great vessels	9200	HACD1	OMIM:619967
HP:0030962	Abnormal morphology of the great vessels	23384	SPECC1L	ORPHA:1519
HP:0030962	Abnormal morphology of the great vessels	3764	KCNJ8	ORPHA:1517
HP:0030962	Abnormal morphology of the great vessels	10060	ABCC9	ORPHA:1517
HP:0030962	Abnormal morphology of the great vessels	10060	ABCC9	OMIM:239850
HP:0030962	Abnormal morphology of the great vessels	7086	TKT	ORPHA:488618
HP:0030962	Abnormal morphology of the great vessels	7086	TKT	OMIM:617044
HP:0030962	Abnormal morphology of the great vessels	9723	SEMA3E	ORPHA:138
HP:0030962	Abnormal morphology of the great vessels	57231	SNX14	ORPHA:397709
HP:0030962	Abnormal morphology of the great vessels	5189	PEX1	OMIM:214100
HP:0030962	Abnormal morphology of the great vessels	54880	BCOR	ORPHA:2712
HP:0030962	Abnormal morphology of the great vessels	54880	BCOR	OMIM:300166
HP:0030962	Abnormal morphology of the great vessels	4853	NOTCH2	OMIM:102500
HP:0030962	Abnormal morphology of the great vessels	4853	NOTCH2	ORPHA:955
HP:0030962	Abnormal morphology of the great vessels	2261	FGFR3	ORPHA:1860
HP:0030962	Abnormal morphology of the great vessels	2261	FGFR3	ORPHA:93274
HP:0030962	Abnormal morphology of the great vessels	2261	FGFR3	ORPHA:2363
HP:0030962	Abnormal morphology of the great vessels	7994	KAT6A	ORPHA:457193
HP:0030962	Abnormal morphology of the great vessels	7994	KAT6A	OMIM:616268
HP:0030962	Abnormal morphology of the great vessels	55109	AGGF1	ORPHA:90308
HP:0030962	Abnormal morphology of the great vessels	5290	PIK3CA	ORPHA:90308
HP:0030962	Abnormal morphology of the great vessels	8726	EED	OMIM:617561
HP:0030962	Abnormal morphology of the great vessels	203286	ANKS6	OMIM:615382
HP:0030962	Abnormal morphology of the great vessels	22884	WDR37	OMIM:618652
HP:0030962	Abnormal morphology of the great vessels	57178	ZMIZ1	OMIM:618659
HP:0030962	Abnormal morphology of the great vessels	8550	MAPKAPK5	OMIM:619869
HP:0030962	Abnormal morphology of the great vessels	5950	RBP4	OMIM:615147
HP:0030962	Abnormal morphology of the great vessels	11193	WBP4	OMIM:620852
HP:0030962	Abnormal morphology of the great vessels	3782	KCNN3	OMIM:618658
HP:0030962	Abnormal morphology of the great vessels	2296	FOXC1	OMIM:602482
HP:0030962	Abnormal morphology of the great vessels	81794	ADAMTS10	OMIM:277600
HP:0030962	Abnormal morphology of the great vessels	81794	ADAMTS10	ORPHA:3449
HP:0030962	Abnormal morphology of the great vessels	3476	IGBP1	ORPHA:52055
HP:0030962	Abnormal morphology of the great vessels	3476	IGBP1	OMIM:300472
HP:0030962	Abnormal morphology of the great vessels	51604	PIGT	OMIM:615398
HP:0030962	Abnormal morphology of the great vessels	51604	PIGT	ORPHA:369837
HP:0030962	Abnormal morphology of the great vessels	23126	POGZ	OMIM:616364
HP:0030962	Abnormal morphology of the great vessels	54914	FOCAD	OMIM:619991
HP:0030962	Abnormal morphology of the great vessels	213	ALB	OMIM:616000
HP:0030962	Abnormal morphology of the great vessels	57167	SALL4	OMIM:147750
HP:0030962	Abnormal morphology of the great vessels	3481	IGF2	OMIM:616489
HP:0030962	Abnormal morphology of the great vessels	27125	AFF4	OMIM:616368
HP:0030962	Abnormal morphology of the great vessels	27125	AFF4	ORPHA:444077
HP:0030962	Abnormal morphology of the great vessels	57863	CADM3	OMIM:619519
HP:0030962	Abnormal morphology of the great vessels	5590	PRKCZ	ORPHA:1606
HP:0030962	Abnormal morphology of the great vessels	2563	GABRD	ORPHA:1606
HP:0030962	Abnormal morphology of the great vessels	23013	SPEN	ORPHA:1606
HP:0030962	Abnormal morphology of the great vessels	8510	MMP23B	ORPHA:1606
HP:0030962	Abnormal morphology of the great vessels	7798	LUZP1	ORPHA:1606
HP:0030962	Abnormal morphology of the great vessels	10630	PDPN	ORPHA:1606
HP:0030962	Abnormal morphology of the great vessels	3339	HSPG2	ORPHA:1606
HP:0030962	Abnormal morphology of the great vessels	10277	UBE4B	ORPHA:1606
HP:0030962	Abnormal morphology of the great vessels	8514	KCNAB2	ORPHA:1606
HP:0030962	Abnormal morphology of the great vessels	473	RERE	ORPHA:1606
HP:0030962	Abnormal morphology of the great vessels	473	RERE	OMIM:616975
HP:0030962	Abnormal morphology of the great vessels	63976	PRDM16	ORPHA:1606
HP:0030962	Abnormal morphology of the great vessels	54897	CASZ1	ORPHA:1606
HP:0030962	Abnormal morphology of the great vessels	286	ANK1	ORPHA:251066
HP:0030962	Abnormal morphology of the great vessels	415	ARSL	ORPHA:79345
HP:0030962	Abnormal morphology of the great vessels	1859	DYRK1A	ORPHA:464311
HP:0030962	Abnormal morphology of the great vessels	1859	DYRK1A	OMIM:614104
HP:0030962	Abnormal morphology of the great vessels	4247	MGAT2	ORPHA:79329
HP:0030962	Abnormal morphology of the great vessels	7750	ZMYM2	OMIM:619522
HP:0030962	Abnormal morphology of the great vessels	9772	TMEM94	OMIM:618316
HP:0030962	Abnormal morphology of the great vessels	79971	WLS	OMIM:619648
HP:0030962	Abnormal morphology of the great vessels	51341	ZBTB7A	OMIM:619769
HP:0030962	Abnormal morphology of the great vessels	775	CACNA1C	OMIM:601005
HP:0030962	Abnormal morphology of the great vessels	79989	IFT56	OMIM:619534
HP:0030962	Abnormal morphology of the great vessels	285203	EOGT	OMIM:615297
HP:0030962	Abnormal morphology of the great vessels	25836	NIPBL	OMIM:122470
HP:0030962	Abnormal morphology of the great vessels	85459	CEP295	OMIM:620767
HP:0030962	Abnormal morphology of the great vessels	2303	FOXC2	ORPHA:33001
HP:0030962	Abnormal morphology of the great vessels	2303	FOXC2	OMIM:153400
HP:0030962	Abnormal morphology of the great vessels	79087	ALG12	ORPHA:79324
HP:0030962	Abnormal morphology of the great vessels	79087	ALG12	OMIM:607143
HP:0030962	Abnormal morphology of the great vessels	51117	COQ4	OMIM:616276
HP:0030962	Abnormal morphology of the great vessels	1523	CUX1	OMIM:618330
HP:0030962	Abnormal morphology of the great vessels	27429	HTRA2	OMIM:617248
HP:0030962	Abnormal morphology of the great vessels	5062	PAK2	OMIM:618458
HP:0030962	Abnormal morphology of the great vessels	5062	PAK2	ORPHA:1571
HP:0030962	Abnormal morphology of the great vessels	5908	RAP1B	OMIM:620654
HP:0030962	Abnormal morphology of the great vessels	9949	AMMECR1	OMIM:300990
HP:0030962	Abnormal morphology of the great vessels	9949	AMMECR1	ORPHA:86818
HP:0030962	Abnormal morphology of the great vessels	6909	TBX2	OMIM:618223
HP:0030962	Abnormal morphology of the great vessels	6885	MAP3K7	OMIM:617137
HP:0030962	Abnormal morphology of the great vessels	253738	EBF3	ORPHA:96148
HP:0030962	Abnormal morphology of the great vessels	10102	TSFM	OMIM:610505
HP:0030962	Abnormal morphology of the great vessels	55315	SLC29A3	OMIM:602782
HP:0030962	Abnormal morphology of the great vessels	7372	UMPS	ORPHA:30
HP:0030962	Abnormal morphology of the great vessels	6651	SON	OMIM:617140
HP:0030962	Abnormal morphology of the great vessels	8312	AXIN1	OMIM:620558
HP:0030962	Abnormal morphology of the great vessels	9126	SMC3	OMIM:610759
HP:0030962	Abnormal morphology of the great vessels	79068	FTO	OMIM:612938
HP:0030962	Abnormal morphology of the great vessels	8626	TP63	OMIM:106260
HP:0030962	Abnormal morphology of the great vessels	170302	ARX	ORPHA:452
HP:0030962	Abnormal morphology of the great vessels	4784	NFIX	OMIM:602535
HP:0030962	Abnormal morphology of the great vessels	2530	FUT8	OMIM:618005
HP:0030962	Abnormal morphology of the great vessels	3756	KCNH1	OMIM:135500
HP:0030962	Abnormal morphology of the great vessels	8260	NAA10	OMIM:300855
HP:0030962	Abnormal morphology of the great vessels	11274	USP18	OMIM:617397
HP:0030962	Abnormal morphology of the great vessels	93166	PRDM6	OMIM:617039
HP:0030962	Abnormal morphology of the great vessels	400569	MED11	OMIM:620327
HP:0030962	Abnormal morphology of the great vessels	7703	PCGF2	OMIM:618371
HP:0030962	Abnormal morphology of the great vessels	27031	NPHP3	OMIM:267010
HP:0030962	Abnormal morphology of the great vessels	27031	NPHP3	OMIM:208540
HP:0030962	Abnormal morphology of the great vessels	9496	TBX4	ORPHA:261279
HP:0030962	Abnormal morphology of the great vessels	1760	DMPK	ORPHA:589821
HP:0030962	Abnormal morphology of the great vessels	4613	MYCN	OMIM:164280
HP:0030962	Abnormal morphology of the great vessels	4613	MYCN	ORPHA:391641
HP:0030962	Abnormal morphology of the great vessels	51715	RAB23	ORPHA:65759
HP:0030962	Abnormal morphology of the great vessels	51715	RAB23	OMIM:201000
HP:0030962	Abnormal morphology of the great vessels	1954	MEGF8	ORPHA:65759
HP:0030962	Abnormal morphology of the great vessels	1954	MEGF8	OMIM:614976
HP:0030962	Abnormal morphology of the great vessels	4990	SIX6	OMIM:206900
HP:0030962	Abnormal morphology of the great vessels	6657	SOX2	OMIM:206900
HP:0030962	Abnormal morphology of the great vessels	6657	SOX2	ORPHA:77298
HP:0030962	Abnormal morphology of the great vessels	1974	EIF4A2	OMIM:620455
HP:0030962	Abnormal morphology of the great vessels	164781	DAW1	OMIM:620570
HP:0030962	Abnormal morphology of the great vessels	9321	TRIP11	ORPHA:166272
HP:0030962	Abnormal morphology of the great vessels	54809	SAMD9	OMIM:617053
HP:0030962	Abnormal morphology of the great vessels	57003	CCDC47	OMIM:618268
HP:0030962	Abnormal morphology of the great vessels	57061	HYMAI	ORPHA:96191
HP:0030962	Abnormal morphology of the great vessels	5325	PLAGL1	ORPHA:96191
HP:0030962	Abnormal morphology of the great vessels	64840	PORCN	ORPHA:2092
HP:0030962	Abnormal morphology of the great vessels	348180	CTU2	OMIM:618142
HP:0030962	Abnormal morphology of the great vessels	26005	C2CD3	ORPHA:434179
HP:0030962	Abnormal morphology of the great vessels	26005	C2CD3	OMIM:615948
HP:0030962	Abnormal morphology of the great vessels	3248	HPGD	OMIM:259100
HP:0030962	Abnormal morphology of the great vessels	84172	POLR1B	ORPHA:861
HP:0030962	Abnormal morphology of the great vessels	9533	POLR1C	ORPHA:861
HP:0030962	Abnormal morphology of the great vessels	51082	POLR1D	ORPHA:861
HP:0030962	Abnormal morphology of the great vessels	6949	TCOF1	ORPHA:861
HP:0030962	Abnormal morphology of the great vessels	7204	TRIO	OMIM:617061
HP:0030962	Abnormal morphology of the great vessels	2077	ERF	OMIM:617180
HP:0030962	Abnormal morphology of the great vessels	374879	ZNF699	OMIM:619488
HP:0030962	Abnormal morphology of the great vessels	4841	NONO	OMIM:300967
HP:0030962	Abnormal morphology of the great vessels	4841	NONO	ORPHA:466791
HP:0030962	Abnormal morphology of the great vessels	8239	USP9X	OMIM:300968
HP:0030962	Abnormal morphology of the great vessels	8239	USP9X	ORPHA:480880
HP:0030962	Abnormal morphology of the great vessels	28952	CCDC22	OMIM:300963
HP:0030962	Abnormal morphology of the great vessels	6299	SALL1	ORPHA:857
HP:0030962	Abnormal morphology of the great vessels	51339	DACT1	ORPHA:857
HP:0030962	Abnormal morphology of the great vessels	118924	FRA10AC1	OMIM:620113
HP:0030962	Abnormal morphology of the great vessels	60	ACTB	OMIM:620475
HP:0030962	Abnormal morphology of the great vessels	60	ACTB	OMIM:243310
HP:0030962	Abnormal morphology of the great vessels	745	MYRF	OMIM:618280
HP:0030962	Abnormal morphology of the great vessels	55252	ASXL2	OMIM:617190
HP:0030962	Abnormal morphology of the great vessels	23387	SIK3	OMIM:618162
HP:0030962	Abnormal morphology of the great vessels	6748	SSR4	ORPHA:370927
HP:0030962	Abnormal morphology of the great vessels	89970	RSPRY1	ORPHA:457395
HP:0030962	Abnormal morphology of the great vessels	5557	PRIM1	OMIM:620005
HP:0030962	Abnormal morphology of the great vessels	23522	KAT6B	ORPHA:3047
HP:0030962	Abnormal morphology of the great vessels	27161	AGO2	OMIM:619149
HP:0030962	Abnormal morphology of the great vessels	9652	SKIC3	ORPHA:84064
HP:0030962	Abnormal morphology of the great vessels	6499	SKIC2	ORPHA:84064
HP:0030962	Abnormal morphology of the great vessels	10262	SF3B4	OMIM:154400
HP:0030962	Abnormal morphology of the great vessels	55503	TRPV6	OMIM:618188
HP:0030962	Abnormal morphology of the great vessels	57539	WDR35	OMIM:613610
HP:0030962	Abnormal morphology of the great vessels	8496	PPFIBP1	OMIM:620024
HP:0030962	Abnormal morphology of the great vessels	51506	UFC1	OMIM:618076
HP:0030962	Abnormal morphology of the great vessels	4010	LMX1B	ORPHA:495818
HP:0030962	Abnormal morphology of the great vessels	6812	STXBP1	ORPHA:495818
HP:0030962	Abnormal morphology of the great vessels	55249	YY1AP1	ORPHA:79094
HP:0030962	Abnormal morphology of the great vessels	55788	LMBRD1	OMIM:277380
HP:0030962	Abnormal morphology of the great vessels	10225	CD96	OMIM:211750
HP:0030962	Abnormal morphology of the great vessels	57492	ARID1B	OMIM:135900
HP:0030962	Abnormal morphology of the great vessels	57492	ARID1B	ORPHA:1465
HP:0030962	Abnormal morphology of the great vessels	1889	ECE1	OMIM:613870
HP:0030962	Abnormal morphology of the great vessels	92579	G6PC3	OMIM:612541
HP:0030962	Abnormal morphology of the great vessels	6597	SMARCA4	OMIM:614609
HP:0030962	Abnormal morphology of the great vessels	6597	SMARCA4	ORPHA:1465
HP:0030962	Abnormal morphology of the great vessels	132158	GLYCTK	OMIM:220120
HP:0030962	Abnormal morphology of the great vessels	55148	UBR7	OMIM:619189
HP:0030962	Abnormal morphology of the great vessels	51021	MRPS16	OMIM:610498
HP:0030962	Abnormal morphology of the great vessels	657	BMPR1A	ORPHA:79076
HP:0030962	Abnormal morphology of the great vessels	79053	ALG8	OMIM:608104
HP:0030962	Abnormal morphology of the great vessels	26227	PHGDH	OMIM:256520
HP:0030962	Abnormal morphology of the great vessels	54499	TMCO1	OMIM:213980
HP:0030962	Abnormal morphology of the great vessels	23137	SMC5	OMIM:620185
HP:0030962	Abnormal morphology of the great vessels	79228	THOC6	ORPHA:363444
HP:0030962	Abnormal morphology of the great vessels	79228	THOC6	OMIM:613680
HP:0030962	Abnormal morphology of the great vessels	4094	MAF	ORPHA:1272
HP:0030962	Abnormal morphology of the great vessels	2697	GJA1	ORPHA:2248
HP:0030962	Abnormal morphology of the great vessels	2255	FGF10	ORPHA:2363
HP:0030962	Abnormal morphology of the great vessels	8813	DPM1	OMIM:608799
HP:0030962	Abnormal morphology of the great vessels	170691	ADAMTS17	ORPHA:3449
HP:0030962	Abnormal morphology of the great vessels	4053	LTBP2	ORPHA:3449
HP:0030962	Abnormal morphology of the great vessels	2146	EZH2	OMIM:277590
HP:0030962	Abnormal morphology of the great vessels	5824	PEX19	OMIM:614886
HP:0030962	Abnormal morphology of the great vessels	8195	MKKS	ORPHA:2473
HP:0030962	Abnormal morphology of the great vessels	157570	ESCO2	OMIM:268300
HP:0030962	Abnormal morphology of the great vessels	2719	GPC3	OMIM:312870
HP:0030962	Abnormal morphology of the great vessels	2239	GPC4	OMIM:312870
HP:0030962	Abnormal morphology of the great vessels	11020	IFT27	OMIM:615996
HP:0030962	Abnormal morphology of the great vessels	5648	MASP1	OMIM:257920
HP:0030962	Abnormal morphology of the great vessels	85358	SHANK3	OMIM:606232
HP:0030962	Abnormal morphology of the great vessels	1837	DTNA	OMIM:604169
HP:0030962	Abnormal morphology of the great vessels	113179	ADAT3	ORPHA:363528
HP:0030962	Abnormal morphology of the great vessels	998	CDC42	OMIM:616737
HP:0030962	Abnormal morphology of the great vessels	998	CDC42	ORPHA:487796
HP:0030962	Abnormal morphology of the great vessels	4297	KMT2A	OMIM:605130
HP:0030962	Abnormal morphology of the great vessels	388753	COA6	OMIM:616501
HP:0030962	Abnormal morphology of the great vessels	6598	SMARCB1	ORPHA:1465
HP:0030962	Abnormal morphology of the great vessels	6659	SOX4	ORPHA:1465
HP:0030962	Abnormal morphology of the great vessels	8289	ARID1A	ORPHA:1465
HP:0030962	Abnormal morphology of the great vessels	5977	DPF2	ORPHA:1465
HP:0030962	Abnormal morphology of the great vessels	6601	SMARCC2	ORPHA:1465
HP:0030962	Abnormal morphology of the great vessels	6602	SMARCD1	ORPHA:1465
HP:0030962	Abnormal morphology of the great vessels	196528	ARID2	ORPHA:1465
HP:0030962	Abnormal morphology of the great vessels	6605	SMARCE1	ORPHA:1465
HP:0030962	Abnormal morphology of the great vessels	6664	SOX11	ORPHA:1465
HP:0030962	Abnormal morphology of the great vessels	51008	ASCC1	OMIM:616867
HP:0030962	Abnormal morphology of the great vessels	9325	TRIP4	OMIM:616866
HP:0030962	Abnormal morphology of the great vessels	57511	COG6	OMIM:614576
HP:0030962	Abnormal morphology of the great vessels	80781	COL18A1	ORPHA:1571
HP:0030962	Abnormal morphology of the great vessels	80781	COL18A1	OMIM:267750
HP:0030962	Abnormal morphology of the great vessels	6638	SNRPN	ORPHA:177907
HP:0030962	Abnormal morphology of the great vessels	59336	PRDM13	OMIM:619909
HP:0030962	Abnormal morphology of the great vessels	6628	SNRPB	OMIM:117650
HP:0030962	Abnormal morphology of the great vessels	23630	KCNE5	ORPHA:86818
HP:0030962	Abnormal morphology of the great vessels	2182	ACSL4	ORPHA:86818
HP:0030962	Abnormal morphology of the great vessels	1857	DVL3	OMIM:616894
HP:0030962	Abnormal morphology of the great vessels	7291	TWIST1	OMIM:617746
HP:0030962	Abnormal morphology of the great vessels	100506658	OCLN	OMIM:251290
HP:0030962	Abnormal morphology of the great vessels	93649	MYOCD	OMIM:618719
HP:0030962	Abnormal morphology of the great vessels	2767	GNA11	ORPHA:1556
HP:0030962	Abnormal morphology of the great vessels	151188	ARL6IP6	ORPHA:1556
HP:0030962	Abnormal morphology of the great vessels	5331	PLCB3	OMIM:618961
HP:0030962	Abnormal morphology of the great vessels	153241	CEP120	OMIM:616300
HP:0030962	Abnormal morphology of the great vessels	5879	RAC1	OMIM:617751
HP:0030962	Abnormal morphology of the great vessels	5879	RAC1	ORPHA:500159
HP:0030962	Abnormal morphology of the great vessels	5116	PCNT	ORPHA:2637
HP:0030962	Abnormal morphology of the great vessels	10269	ZMPSTE24	ORPHA:1662
HP:0030962	Abnormal morphology of the great vessels	10269	ZMPSTE24	OMIM:275210
HP:0030962	Abnormal morphology of the great vessels	5718	PSMD12	OMIM:617516
HP:0030962	Abnormal morphology of the great vessels	55191	NADSYN1	OMIM:618845
HP:0030962	Abnormal morphology of the great vessels	9757	KMT2B	OMIM:619934
HP:0030962	Abnormal morphology of the great vessels	84148	KAT8	OMIM:618974
HP:0030962	Abnormal morphology of the great vessels	83871	RAB34	OMIM:620718
HP:0030962	Abnormal morphology of the great vessels	54567	DLL4	OMIM:616589
HP:0030962	Abnormal morphology of the great vessels	54916	TMEM260	OMIM:617478
HP:0030962	Abnormal morphology of the great vessels	284086	NEK8	OMIM:615415
HP:0030962	Abnormal morphology of the great vessels	3708	ITPR1	OMIM:206700
HP:0030962	Abnormal morphology of the great vessels	650	BMP2	OMIM:617877
HP:0030962	Abnormal morphology of the great vessels	9487	PIGL	OMIM:280000
HP:0030962	Abnormal morphology of the great vessels	9487	PIGL	ORPHA:3474
HP:0030962	Abnormal morphology of the great vessels	93	ACVR2B	OMIM:613751
HP:0030962	Abnormal morphology of the great vessels	490	ATP2B1	OMIM:619910
HP:0030962	Abnormal morphology of the great vessels	23389	MED13L	OMIM:616789
HP:0030962	Abnormal morphology of the great vessels	2218	FKTN	OMIM:253800
HP:0030962	Abnormal morphology of the great vessels	118856	MMP21	OMIM:616749
HP:0030962	Abnormal morphology of the great vessels	54870	QRICH1	OMIM:617982
HP:0030962	Abnormal morphology of the great vessels	220136	CFAP53	OMIM:614779
HP:0030962	Abnormal morphology of the great vessels	2783	GNB2	OMIM:619503
HP:0030962	Abnormal morphology of the great vessels	55997	CFC1	OMIM:605376
HP:0030962	Abnormal morphology of the great vessels	6910	TBX5	ORPHA:392
HP:0030962	Abnormal morphology of the great vessels	23556	PIGN	ORPHA:2059
HP:0030962	Abnormal morphology of the great vessels	3423	IDS	ORPHA:217085
HP:0030962	Abnormal morphology of the great vessels	3423	IDS	ORPHA:217093
HP:0030962	Abnormal morphology of the great vessels	9759	HDAC4	ORPHA:1001
HP:0030962	Abnormal morphology of the great vessels	2260	FGFR1	ORPHA:2396
HP:0030962	Abnormal morphology of the great vessels	3845	KRAS	ORPHA:2396
HP:0030962	Abnormal morphology of the great vessels	64359	NXN	ORPHA:1507
HP:0030962	Abnormal morphology of the great vessels	4920	ROR2	ORPHA:1507
HP:0030962	Abnormal morphology of the great vessels	672	BRCA1	ORPHA:84
HP:0030962	Abnormal morphology of the great vessels	10459	MAD2L2	ORPHA:84
HP:0030962	Abnormal morphology of the great vessels	7516	XRCC2	ORPHA:84
HP:0030962	Abnormal morphology of the great vessels	29089	UBE2T	ORPHA:84
HP:0030962	Abnormal morphology of the great vessels	675	BRCA2	ORPHA:84
HP:0030962	Abnormal morphology of the great vessels	55120	FANCL	ORPHA:84
HP:0030962	Abnormal morphology of the great vessels	2177	FANCD2	ORPHA:84
HP:0030962	Abnormal morphology of the great vessels	2175	FANCA	ORPHA:84
HP:0030962	Abnormal morphology of the great vessels	2187	FANCB	ORPHA:84
HP:0030962	Abnormal morphology of the great vessels	2176	FANCC	ORPHA:84
HP:0030962	Abnormal morphology of the great vessels	2178	FANCE	ORPHA:84
HP:0030962	Abnormal morphology of the great vessels	2188	FANCF	ORPHA:84
HP:0030962	Abnormal morphology of the great vessels	2189	FANCG	ORPHA:84
HP:0030962	Abnormal morphology of the great vessels	5888	RAD51	ORPHA:84
HP:0030962	Abnormal morphology of the great vessels	5889	RAD51C	ORPHA:84
HP:0030962	Abnormal morphology of the great vessels	55159	RFWD3	ORPHA:84
HP:0030962	Abnormal morphology of the great vessels	83990	BRIP1	ORPHA:84
HP:0030962	Abnormal morphology of the great vessels	57697	FANCM	ORPHA:84
HP:0030962	Abnormal morphology of the great vessels	79728	PALB2	ORPHA:84
HP:0030962	Abnormal morphology of the great vessels	84464	SLX4	ORPHA:84
HP:0030962	Abnormal morphology of the great vessels	2072	ERCC4	ORPHA:84
HP:0030962	Abnormal morphology of the great vessels	55215	FANCI	ORPHA:84
HP:0030962	Abnormal morphology of the great vessels	2626	GATA4	ORPHA:251071
HP:0030962	Abnormal morphology of the great vessels	9184	BUB3	ORPHA:1052
HP:0030962	Abnormal morphology of the great vessels	699	BUB1	ORPHA:1052
HP:0030962	Abnormal morphology of the great vessels	9702	CEP57	ORPHA:1052
HP:0030962	Abnormal morphology of the great vessels	9319	TRIP13	ORPHA:1052
HP:0030962	Abnormal morphology of the great vessels	701	BUB1B	ORPHA:1052
HP:0030962	Abnormal morphology of the great vessels	2737	GLI3	ORPHA:672
HP:0030962	Abnormal morphology of the great vessels	22827	PUF60	ORPHA:508498
HP:0030962	Abnormal morphology of the great vessels	22827	PUF60	ORPHA:508488
HP:0030962	Abnormal morphology of the great vessels	10128	LRPPRC	OMIM:220111
HP:0030962	Abnormal morphology of the great vessels	2294	FOXF1	OMIM:265380
HP:0030962	Abnormal morphology of the great vessels	8216	LZTR1	OMIM:616564
HP:0030962	Abnormal morphology of the great vessels	8216	LZTR1	ORPHA:648
HP:0030962	Abnormal morphology of the great vessels	8216	LZTR1	OMIM:605275
HP:0030962	Abnormal morphology of the great vessels	123606	NIPA1	ORPHA:261183
HP:0030962	Abnormal morphology of the great vessels	7283	TUBG1	ORPHA:261183
HP:0030962	Abnormal morphology of the great vessels	81614	NIPA2	ORPHA:261183
HP:0030962	Abnormal morphology of the great vessels	1024	CDK8	OMIM:618748
HP:0030962	Abnormal morphology of the great vessels	100151683	RNU4ATAC	OMIM:210710
HP:0030962	Abnormal morphology of the great vessels	132	ADK	OMIM:614300
HP:0030962	Abnormal morphology of the great vessels	4091	SMAD6	OMIM:614823
HP:0030962	Abnormal morphology of the great vessels	4091	SMAD6	ORPHA:402075
HP:0030962	Abnormal morphology of the great vessels	79903	NAA60	OMIM:620786
HP:0030962	Abnormal morphology of the great vessels	2657	GDF1	OMIM:613854
HP:0030962	Abnormal morphology of the great vessels	5927	KDM5A	OMIM:620820
HP:0030962	Abnormal morphology of the great vessels	79813	EHMT1	ORPHA:96147
HP:0030962	Abnormal morphology of the great vessels	10992	SF3B2	OMIM:164210
HP:0030962	Abnormal morphology of the great vessels	4838	NODAL	OMIM:270100
HP:0030962	Abnormal morphology of the great vessels	4838	NODAL	ORPHA:280195
HP:0030962	Abnormal morphology of the great vessels	64220	STRA6	OMIM:601186
HP:0030962	Abnormal morphology of the great vessels	6888	TALDO1	ORPHA:101028
HP:0030962	Abnormal morphology of the great vessels	6888	TALDO1	OMIM:606003
HP:0030962	Abnormal morphology of the great vessels	7707	ZNF148	OMIM:617260
HP:0030962	Abnormal morphology of the great vessels	7490	WT1	ORPHA:3097
HP:0030962	Abnormal morphology of the great vessels	7490	WT1	OMIM:608978
HP:0030962	Abnormal morphology of the great vessels	10847	SRCAP	OMIM:136140
HP:0030962	Abnormal morphology of the great vessels	10847	SRCAP	ORPHA:2044
HP:0030962	Abnormal morphology of the great vessels	1387	CREBBP	ORPHA:353281
HP:0030962	Abnormal morphology of the great vessels	1387	CREBBP	OMIM:180849
HP:0030962	Abnormal morphology of the great vessels	1387	CREBBP	ORPHA:353277
HP:0030962	Abnormal morphology of the great vessels	89910	UBE3B	OMIM:244450
HP:0030962	Abnormal morphology of the great vessels	4893	NRAS	OMIM:613224
HP:0030962	Abnormal morphology of the great vessels	4893	NRAS	OMIM:163200
HP:0030962	Abnormal morphology of the great vessels	4893	NRAS	ORPHA:648
HP:0030962	Abnormal morphology of the great vessels	55784	MCTP2	ORPHA:1596
HP:0030962	Abnormal morphology of the great vessels	8085	KMT2D	ORPHA:2322
HP:0030962	Abnormal morphology of the great vessels	8085	KMT2D	OMIM:147920
HP:0030962	Abnormal morphology of the great vessels	7403	KDM6A	ORPHA:2322
HP:0030962	Abnormal morphology of the great vessels	7403	KDM6A	OMIM:300867
HP:0030962	Abnormal morphology of the great vessels	7403	KDM6A	OMIM:147920
HP:0030962	Abnormal morphology of the great vessels	2033	EP300	ORPHA:353284
HP:0030962	Abnormal morphology of the great vessels	2033	EP300	OMIM:180849
HP:0030962	Abnormal morphology of the great vessels	5053	PAH	ORPHA:2209
HP:0030962	Abnormal morphology of the great vessels	7547	ZIC3	OMIM:306955
HP:0030962	Abnormal morphology of the great vessels	4763	NF1	OMIM:162200
HP:0030962	Abnormal morphology of the great vessels	4763	NF1	ORPHA:97685
HP:0030962	Abnormal morphology of the great vessels	10735	STAG2	OMIM:301022
HP:0030962	Abnormal morphology of the great vessels	1956	EGFR	OMIM:616069
HP:0030962	Abnormal morphology of the great vessels	146862	UNC45B	OMIM:619178
HP:0030962	Abnormal morphology of the great vessels	9968	MED12	ORPHA:93932
HP:0030962	Abnormal morphology of the great vessels	9968	MED12	OMIM:301068
HP:0030962	Abnormal morphology of the great vessels	1108	CHD4	OMIM:617159
HP:0030962	Abnormal morphology of the great vessels	7026	NR2F2	OMIM:615779
HP:0030962	Abnormal morphology of the great vessels	51057	WDPCP	OMIM:217085
HP:0030962	Abnormal morphology of the great vessels	1000	CDH2	OMIM:618929
HP:0030962	Abnormal morphology of the great vessels	4313	MMP2	ORPHA:371428
HP:0030962	Abnormal morphology of the great vessels	4323	MMP14	ORPHA:371428
HP:0030962	Abnormal morphology of the great vessels	1717	DHCR7	OMIM:270400
HP:0030962	Abnormal morphology of the great vessels	9839	ZEB2	ORPHA:261552
HP:0030962	Abnormal morphology of the great vessels	9839	ZEB2	ORPHA:261537
HP:0030962	Abnormal morphology of the great vessels	5745	PTH1R	ORPHA:50945
HP:0030962	Abnormal morphology of the great vessels	4212	MEIS2	OMIM:600987
HP:0030962	Abnormal morphology of the great vessels	8802	SUCLG1	ORPHA:17
HP:0030962	Abnormal morphology of the great vessels	1822	ATN1	OMIM:618494
HP:0030962	Abnormal morphology of the great vessels	25	ABL1	OMIM:617602
HP:0030962	Abnormal morphology of the great vessels	139285	AMER1	ORPHA:2780
HP:0030962	Abnormal morphology of the great vessels	26834	RNU4-2	OMIM:620851
HP:0030962	Abnormal morphology of the great vessels	55644	OSGEP	OMIM:617729
HP:0030962	Abnormal morphology of the great vessels	5826	ABCD4	OMIM:614857
HP:0030962	Abnormal morphology of the great vessels	8883	NAE1	OMIM:620210
HP:0030962	Abnormal morphology of the great vessels	2313	FLI1	ORPHA:2308
HP:0030962	Abnormal morphology of the great vessels	10664	CTCF	ORPHA:363611
HP:0030962	Abnormal morphology of the great vessels	10664	CTCF	OMIM:615502
HP:0030962	Abnormal morphology of the great vessels	65250	CPLANE1	OMIM:277170
HP:0030962	Abnormal morphology of the great vessels	3265	HRAS	OMIM:163200
HP:0030962	Abnormal morphology of the great vessels	83475	DOHH	OMIM:620066
HP:0030962	Abnormal morphology of the great vessels	11198	SUPT16H	OMIM:619480
HP:0030962	Abnormal morphology of the great vessels	4089	SMAD4	OMIM:139210
HP:0030962	Abnormal morphology of the great vessels	28514	DLL1	ORPHA:280195
HP:0030962	Abnormal morphology of the great vessels	2253	FGF8	ORPHA:280195
HP:0030962	Abnormal morphology of the great vessels	6496	SIX3	ORPHA:280195
HP:0030962	Abnormal morphology of the great vessels	7050	TGIF1	ORPHA:280195
HP:0030962	Abnormal morphology of the great vessels	6469	SHH	ORPHA:280195
HP:0030962	Abnormal morphology of the great vessels	7546	ZIC2	ORPHA:280195
HP:0030962	Abnormal morphology of the great vessels	6491	STIL	ORPHA:280195
HP:0030962	Abnormal morphology of the great vessels	2619	GAS1	ORPHA:280195
HP:0030962	Abnormal morphology of the great vessels	84976	DISP1	ORPHA:280195
HP:0030962	Abnormal morphology of the great vessels	2736	GLI2	ORPHA:280195
HP:0030962	Abnormal morphology of the great vessels	8928	FOXH1	ORPHA:280195
HP:0030962	Abnormal morphology of the great vessels	6997	CRIPTO	ORPHA:280195
HP:0030962	Abnormal morphology of the great vessels	5727	PTCH1	ORPHA:280195
HP:0030962	Abnormal morphology of the great vessels	50937	CDON	ORPHA:280195
HP:0030962	Abnormal morphology of the great vessels	1654	DDX3X	ORPHA:3338
HP:0030962	Abnormal morphology of the great vessels	57057	TBX20	OMIM:611363
HP:0030962	Abnormal morphology of the great vessels	5500	PPP1CB	OMIM:617506
HP:0030962	Abnormal morphology of the great vessels	182	JAG1	OMIM:118450
HP:0030962	Abnormal morphology of the great vessels	4625	MYH7	OMIM:613426
HP:0030962	Abnormal morphology of the great vessels	4851	NOTCH1	ORPHA:402075
HP:0030962	Abnormal morphology of the great vessels	1482	NKX2-5	ORPHA:402075
HP:0030962	Abnormal morphology of the great vessels	1482	NKX2-5	OMIM:217095
HP:0030962	Abnormal morphology of the great vessels	140628	GATA5	ORPHA:402075
HP:0030962	Abnormal morphology of the great vessels	6899	TBX1	OMIM:217095
HP:0030962	Abnormal morphology of the great vessels	137814	NKX2-6	OMIM:217095
HP:0030962	Abnormal morphology of the great vessels	2627	GATA6	OMIM:217095
HP:0030962	Abnormal morphology of the great vessels	51322	WAC	ORPHA:284169
HP:0030962	Abnormal morphology of the great vessels	84231	TRAF7	OMIM:618164
HP:0030962	Abnormal morphology of the great vessels	23483	TGDS	OMIM:616145
HP:0030962	Abnormal morphology of the great vessels	2006	ELN	ORPHA:90348
HP:0030962	Abnormal morphology of the great vessels	10516	FBLN5	ORPHA:90348
HP:0030962	Abnormal morphology of the great vessels	5832	ALDH18A1	ORPHA:90348
HP:0030962	Abnormal morphology of the great vessels	5236	PGM1	OMIM:614921
HP:0030962	Abnormal morphology of the great vessels	22800	RRAS2	ORPHA:648
HP:0030962	Abnormal morphology of the great vessels	867	CBL	ORPHA:648
HP:0030962	Abnormal morphology of the great vessels	6016	RIT1	ORPHA:648
HP:0030962	Abnormal morphology of the great vessels	6237	RRAS	ORPHA:648
HP:0030962	Abnormal morphology of the great vessels	5894	RAF1	ORPHA:648
HP:0030962	Abnormal morphology of the great vessels	22808	MRAS	ORPHA:648
HP:0030962	Abnormal morphology of the great vessels	200734	SPRED2	ORPHA:648
HP:0030962	Abnormal morphology of the great vessels	6654	SOS1	ORPHA:648
HP:0030962	Abnormal morphology of the great vessels	6655	SOS2	ORPHA:648
HP:0030962	Abnormal morphology of the great vessels	6655	SOS2	OMIM:616559
HP:0030962	Abnormal morphology of the great vessels	5781	PTPN11	ORPHA:648
HP:0030962	Abnormal morphology of the great vessels	5781	PTPN11	OMIM:163950
HP:0030962	Abnormal morphology of the great vessels	5922	RASA2	ORPHA:648
HP:0030962	Abnormal morphology of the great vessels	9939	RBM8A	OMIM:274000
HP:0030962	Abnormal morphology of the great vessels	6223	RPS19	OMIM:105650
HP:0030962	Abnormal morphology of the great vessels	6223	RPS19	ORPHA:124
HP:0030962	Abnormal morphology of the great vessels	6138	RPL15	ORPHA:124
HP:0030962	Abnormal morphology of the great vessels	6224	RPS20	ORPHA:124
HP:0030962	Abnormal morphology of the great vessels	6165	RPL35A	ORPHA:124
HP:0030962	Abnormal morphology of the great vessels	6132	RPL8	ORPHA:124
HP:0030962	Abnormal morphology of the great vessels	6232	RPS27	ORPHA:124
HP:0030962	Abnormal morphology of the great vessels	55027	HEATR3	ORPHA:124
HP:0030962	Abnormal morphology of the great vessels	6160	RPL31	ORPHA:124
HP:0030962	Abnormal morphology of the great vessels	6201	RPS7	ORPHA:124
HP:0030962	Abnormal morphology of the great vessels	6155	RPL27	ORPHA:124
HP:0030962	Abnormal morphology of the great vessels	6234	RPS28	ORPHA:124
HP:0030962	Abnormal morphology of the great vessels	6135	RPL11	ORPHA:124
HP:0030962	Abnormal morphology of the great vessels	6229	RPS24	ORPHA:124
HP:0030962	Abnormal morphology of the great vessels	6125	RPL5	ORPHA:124
HP:0030962	Abnormal morphology of the great vessels	6204	RPS10	ORPHA:124
HP:0030962	Abnormal morphology of the great vessels	2623	GATA1	ORPHA:124
HP:0030962	Abnormal morphology of the great vessels	6133	RPL9	ORPHA:124
HP:0030962	Abnormal morphology of the great vessels	6231	RPS26	ORPHA:124
HP:0030962	Abnormal morphology of the great vessels	11224	RPL35	ORPHA:124
HP:0030962	Abnormal morphology of the great vessels	6218	RPS17	ORPHA:124
HP:0030962	Abnormal morphology of the great vessels	6154	RPL26	ORPHA:124
HP:0030962	Abnormal morphology of the great vessels	6210	RPS15A	ORPHA:124
HP:0030962	Abnormal morphology of the great vessels	90121	TSR2	ORPHA:124
HP:0030962	Abnormal morphology of the great vessels	6141	RPL18	ORPHA:124
HP:0030962	Abnormal morphology of the great vessels	6235	RPS29	ORPHA:124
HP:0030962	Abnormal morphology of the great vessels	51816	ADA2	ORPHA:124
HP:0030962	Abnormal morphology of the great vessels	6595	SMARCA2	OMIM:601358
HP:0030962	Abnormal morphology of the great vessels	51626	DYNC2LI1	OMIM:617088
HP:0030962	Abnormal morphology of the great vessels	8295	TRRAP	OMIM:618454
HP:0030962	Abnormal morphology of the great vessels	54903	MKS1	OMIM:249000
HP:0030962	Abnormal morphology of the great vessels	7543	ZFX	OMIM:301118
HP:0030962	Abnormal morphology of the great vessels	2703	GJA8	OMIM:612474
HP:0030962	Abnormal morphology of the great vessels	2702	GJA5	OMIM:612474
HP:0030962	Abnormal morphology of the great vessels	4281	MID1	ORPHA:2745
HP:0030962	Abnormal morphology of the great vessels	6736	SRY	ORPHA:1772
HP:0030962	Abnormal morphology of the great vessels	100128908	CIROP	OMIM:619702
HP:0030962	Abnormal morphology of the great vessels	673	BRAF	OMIM:163950
HP:0030962	Abnormal morphology of the great vessels	5604	MAP2K1	OMIM:163950
HP:0030962	Abnormal morphology of the great vessels	526	ATP6V1B2	ORPHA:79500
HP:0030962	Abnormal morphology of the great vessels	285590	SH3PXD2B	OMIM:249420
HP:0030962	Abnormal morphology of the great vessels	23007	PLCH1	OMIM:619895
HP:0030962	Abnormal morphology of the great vessels	9451	EIF2AK3	ORPHA:1667
HP:0030962	Abnormal morphology of the great vessels	2074	ERCC6	ORPHA:90324
HP:0030962	Abnormal morphology of the great vessels	1278	COL1A2	ORPHA:230851
HP:0030962	Abnormal morphology of the great vessels	51726	DNAJB11	ORPHA:730
HP:0030962	Abnormal morphology of the great vessels	23193	GANAB	ORPHA:730
HP:0030962	Abnormal morphology of the great vessels	5310	PKD1	ORPHA:730
HP:0030962	Abnormal morphology of the great vessels	5311	PKD2	ORPHA:730
HP:0030962	Abnormal morphology of the great vessels	29880	ALG5	ORPHA:730
HP:0030962	Abnormal morphology of the great vessels	9742	IFT140	ORPHA:730
HP:0030962	Abnormal morphology of the great vessels	79796	ALG9	ORPHA:730
HP:0030962	Abnormal morphology of the great vessels	80114	BICC1	ORPHA:730
HP:0030962	Abnormal morphology of the great vessels	2332	FMR1	ORPHA:449291
HP:0030962	Abnormal morphology of the great vessels	84665	MYPN	ORPHA:171881
HP:0030962	Abnormal morphology of the great vessels	7169	TPM2	ORPHA:171881
HP:0030962	Abnormal morphology of the great vessels	7170	TPM3	ORPHA:171881
HP:0030962	Abnormal morphology of the great vessels	5238	PGM3	OMIM:615816
HP:0030962	Abnormal morphology of the great vessels	1290	COL5A2	ORPHA:287
HP:0030962	Abnormal morphology of the great vessels	9469	CHST3	OMIM:245600
HP:0030962	Abnormal morphology of the great vessels	26229	B3GAT3	OMIM:245600
HP:0030962	Abnormal morphology of the great vessels	4883	NPR3	OMIM:619543
HP:0030962	Abnormal morphology of the great vessels	79576	NKAP	OMIM:301039
HP:0030962	Abnormal morphology of the great vessels	833	CARS1	OMIM:618891
HP:0030962	Abnormal morphology of the great vessels	10743	RAI1	ORPHA:477817
HP:0030962	Abnormal morphology of the great vessels	91754	NEK9	OMIM:617022
HP:0030962	Abnormal morphology of the great vessels	23395	LARS2	OMIM:617021
HP:0030962	Abnormal morphology of the great vessels	54539	NDUFB11	OMIM:309801
HP:0030962	Abnormal morphology of the great vessels	1349	COX7B	OMIM:309801
HP:0030962	Abnormal morphology of the great vessels	3052	HCCS	OMIM:309801
HP:0030962	Abnormal morphology of the great vessels	55636	CHD7	OMIM:214800
HP:0030962	Abnormal morphology of the great vessels	6804	STX1A	ORPHA:904
HP:0030962	Abnormal morphology of the great vessels	7461	CLIP2	ORPHA:904
HP:0030962	Abnormal morphology of the great vessels	84277	DNAJC30	ORPHA:904
HP:0030962	Abnormal morphology of the great vessels	8468	FKBP6	ORPHA:904
HP:0030962	Abnormal morphology of the great vessels	5982	RFC2	ORPHA:904
HP:0030962	Abnormal morphology of the great vessels	2969	GTF2I	ORPHA:904
HP:0030962	Abnormal morphology of the great vessels	3984	LIMK1	ORPHA:904
HP:0030962	Abnormal morphology of the great vessels	9569	GTF2IRD1	ORPHA:904
HP:0030962	Abnormal morphology of the great vessels	155382	VPS37D	ORPHA:904
HP:0030962	Abnormal morphology of the great vessels	155368	METTL27	ORPHA:904
HP:0030962	Abnormal morphology of the great vessels	114049	BUD23	ORPHA:904
HP:0030962	Abnormal morphology of the great vessels	7458	EIF4H	ORPHA:904
HP:0030962	Abnormal morphology of the great vessels	84163	GTF2IRD2	ORPHA:904
HP:0030962	Abnormal morphology of the great vessels	26608	TBL2	ORPHA:904
HP:0030962	Abnormal morphology of the great vessels	653361	NCF1	ORPHA:904
HP:0030962	Abnormal morphology of the great vessels	135886	TMEM270	ORPHA:904
HP:0030962	Abnormal morphology of the great vessels	9031	BAZ1B	ORPHA:904
HP:0030962	Abnormal morphology of the great vessels	2263	FGFR2	OMIM:101200
HP:0030962	Abnormal morphology of the great vessels	26191	PTPN22	ORPHA:397
HP:0030962	Abnormal morphology of the great vessels	3106	HLA-B	ORPHA:397
HP:0030962	Abnormal morphology of the great vessels	3123	HLA-DRB1	ORPHA:397
HP:0030962	Abnormal morphology of the great vessels	8974	P4HA2	ORPHA:397
HP:0030962	Abnormal morphology of the great vessels	4088	SMAD3	ORPHA:284984
HP:0030962	Abnormal morphology of the great vessels	4088	SMAD3	OMIM:613795
HP:0030962	Abnormal morphology of the great vessels	4088	SMAD3	ORPHA:60030
HP:0030962	Abnormal morphology of the great vessels	4088	SMAD3	ORPHA:91387
HP:0030962	Abnormal morphology of the great vessels	1281	COL3A1	OMIM:618343
HP:0030962	Abnormal morphology of the great vessels	1281	COL3A1	ORPHA:286
HP:0030962	Abnormal morphology of the great vessels	1281	COL3A1	ORPHA:231160
HP:0030962	Abnormal morphology of the great vessels	2200	FBN1	OMIM:154700
HP:0030962	Abnormal morphology of the great vessels	2200	FBN1	ORPHA:91387
HP:0030962	Abnormal morphology of the great vessels	5167	ENPP1	ORPHA:51608
HP:0030962	Abnormal morphology of the great vessels	368	ABCC6	ORPHA:51608
HP:0030962	Abnormal morphology of the great vessels	4629	MYH11	OMIM:132900
HP:0030962	Abnormal morphology of the great vessels	4629	MYH11	ORPHA:229
HP:0030962	Abnormal morphology of the great vessels	4629	MYH11	ORPHA:91387
HP:0030962	Abnormal morphology of the great vessels	81031	SLC2A10	ORPHA:3342
HP:0030962	Abnormal morphology of the great vessels	5351	PLOD1	ORPHA:1900
HP:0030962	Abnormal morphology of the great vessels	633	BGN	OMIM:300989
HP:0030962	Abnormal morphology of the great vessels	7046	TGFBR1	ORPHA:60030
HP:0030962	Abnormal morphology of the great vessels	7046	TGFBR1	ORPHA:91387
HP:0030962	Abnormal morphology of the great vessels	10526	IPO8	ORPHA:60030
HP:0030962	Abnormal morphology of the great vessels	7048	TGFBR2	ORPHA:60030
HP:0030962	Abnormal morphology of the great vessels	7048	TGFBR2	ORPHA:91387
HP:0030962	Abnormal morphology of the great vessels	7042	TGFB2	ORPHA:60030
HP:0030962	Abnormal morphology of the great vessels	7042	TGFB2	OMIM:614816
HP:0030962	Abnormal morphology of the great vessels	7042	TGFB2	ORPHA:91387
HP:0030962	Abnormal morphology of the great vessels	7043	TGFB3	ORPHA:60030
HP:0030962	Abnormal morphology of the great vessels	7043	TGFB3	ORPHA:91387
HP:0030962	Abnormal morphology of the great vessels	4087	SMAD2	ORPHA:60030
HP:0030962	Abnormal morphology of the great vessels	4087	SMAD2	ORPHA:91387
HP:0030962	Abnormal morphology of the great vessels	4015	LOX	ORPHA:91387
HP:0030962	Abnormal morphology of the great vessels	59	ACTA2	ORPHA:91387
HP:0030962	Abnormal morphology of the great vessels	5592	PRKG1	ORPHA:91387
HP:0030962	Abnormal morphology of the great vessels	2301	FOXE3	ORPHA:91387
HP:0030962	Abnormal morphology of the great vessels	4144	MAT2A	ORPHA:91387
HP:0030962	Abnormal morphology of the great vessels	23493	HEY2	ORPHA:91387
HP:0030962	Abnormal morphology of the great vessels	8076	MFAP5	ORPHA:91387
HP:0030962	Abnormal morphology of the great vessels	4638	MYLK	ORPHA:91387
HP:0030962	Abnormal morphology of the great vessels	79875	THSD4	ORPHA:91387
HP:0030962	Abnormal morphology of the great vessels	55901	THSD1	ORPHA:231160
HP:0030962	Abnormal morphology of the great vessels	7049	TGFBR3	ORPHA:231160
HP:0030962	Abnormal morphology of the great vessels	83854	ANGPTL6	ORPHA:231160
HP:0030962	Abnormal morphology of the great vessels	2022	ENG	ORPHA:231160
HP:0030962	Abnormal morphology of the great vessels	6134	RPL10	OMIM:300998
HP:0030962	Abnormal morphology of the great vessels	6134	RPL10	ORPHA:459070
HP:0030962	Abnormal morphology of the great vessels	6134	RPL10	ORPHA:435938
HP:0030962	Abnormal morphology of the great vessels	1272	CNTN1	OMIM:612540
HP:0030962	Abnormal morphology of the great vessels	10082	GPC6	OMIM:258315
HP:0030962	Abnormal morphology of the great vessels	9681	DEPDC5	OMIM:620504
HP:0030962	Abnormal morphology of the great vessels	64919	BCL11B	OMIM:617237
HP:0030962	Abnormal morphology of the great vessels	57514	ARHGAP31	OMIM:100300
HP:0030962	Abnormal morphology of the great vessels	7486	WRN	ORPHA:902
HP:0030962	Abnormal morphology of the great vessels	54361	WNT4	OMIM:611812
HP:0030962	Abnormal morphology of the great vessels	10312	TCIRG1	ORPHA:667
HP:0030962	Abnormal morphology of the great vessels	1186	CLCN7	ORPHA:667
HP:0030962	Abnormal morphology of the great vessels	29887	SNX10	ORPHA:667
HP:0030962	Abnormal morphology of the great vessels	8600	TNFSF11	ORPHA:667
HP:0030962	Abnormal morphology of the great vessels	5422	POLA1	OMIM:301030
HP:0030962	Abnormal morphology of the great vessels	4256	MGP	ORPHA:85202
HP:0030962	Abnormal morphology of the great vessels	92002	CCNQ	ORPHA:140952
HP:0030962	Abnormal morphology of the great vessels	30008	EFEMP2	OMIM:614437
HP:0030962	Abnormal morphology of the great vessels	171019	ADAMTS19	OMIM:620067
HP:0030962	Abnormal morphology of the great vessels	7092	TLL1	ORPHA:99106
HP:0030962	Abnormal morphology of the great vessels	11117	EMILIN1	OMIM:620080
HP:0030962	Abnormal morphology of the great vessels	54538	ROBO4	OMIM:618496
HP:0030962	Abnormal morphology of the great vessels	5337	PLD1	OMIM:212093
HP:0030962	Abnormal morphology of the great vessels	78987	CRELD1	OMIM:606217
HP:0030962	Abnormal morphology of the great vessels	23476	BRD4	OMIM:620568
HP:0030962	Abnormal morphology of the great vessels	8772	FADD	OMIM:613759
HP:0030962	Abnormal morphology of the great vessels	8772	FADD	ORPHA:306550
HP:0030962	Abnormal morphology of the great vessels	55593	OTUD5	OMIM:301056
HP:0030962	Abnormal morphology of the great vessels	54487	DGCR8	OMIM:192430
HP:0030962	Abnormal morphology of the great vessels	8214	DGCR6	OMIM:192430
HP:0030962	Abnormal morphology of the great vessels	8220	ESS2	OMIM:192430
HP:0030962	Abnormal morphology of the great vessels	9993	DGCR2	OMIM:192430
HP:0030962	Abnormal morphology of the great vessels	3516	RBPJ	ORPHA:974
HP:0030962	Abnormal morphology of the great vessels	57572	DOCK6	ORPHA:974
HP:0030962	Abnormal morphology of the great vessels	90952	ESAM	OMIM:620371
HP:0030962	Abnormal morphology of the great vessels	1289	COL5A1	OMIM:619329
HP:0030962	Abnormal morphology of the great vessels	375	ARF1	ORPHA:98892
HP:0030962	Abnormal morphology of the great vessels	4131	MAP1B	ORPHA:98892
HP:0030962	Abnormal morphology of the great vessels	2316	FLNA	ORPHA:98892
HP:0030962	Abnormal morphology of the great vessels	23327	NEDD4L	ORPHA:98892
HP:0030962	Abnormal morphology of the great vessels	160418	TMTC3	ORPHA:98892
HP:0030962	Abnormal morphology of the great vessels	10564	ARFGEF2	ORPHA:98892
HP:0030962	Abnormal morphology of the great vessels	55780	ERMARD	ORPHA:98892
HP:0030962	Abnormal morphology of the great vessels	23118	TAB2	OMIM:614980
HP:0030962	Abnormal morphology of the great vessels	6711	SPTBN1	OMIM:619475
HP:0030962	Abnormal morphology of the great vessels	29957	SLC25A24	OMIM:612289
HP:0030962	Abnormal morphology of the great vessels	3081	HGD	OMIM:203500
HP:0030962	Abnormal morphology of the great vessels	3081	HGD	ORPHA:56
HP:0030962	Abnormal morphology of the great vessels	5728	PTEN	ORPHA:109
HP:0030962	Abnormal morphology of the great vessels	64324	NSD1	ORPHA:821
HP:0030962	Abnormal morphology of the great vessels	10297	APC2	ORPHA:821
HP:0030962	Abnormal morphology of the great vessels	3190	HNRNPK	ORPHA:453504
HP:0030962	Abnormal morphology of the great vessels	3190	HNRNPK	ORPHA:352665
HP:0030962	Abnormal morphology of the great vessels	51611	DPH5	OMIM:620070
HP:0030962	Abnormal morphology of the great vessels	284058	KANSL1	ORPHA:363965
HP:0030962	Abnormal morphology of the great vessels	284058	KANSL1	ORPHA:363958
HP:0030962	Abnormal morphology of the great vessels	54453	RIN2	ORPHA:217335
HP:0030962	Abnormal morphology of the great vessels	54453	RIN2	OMIM:613075
HP:0030962	Abnormal morphology of the great vessels	4854	NOTCH3	OMIM:130720
HP:0030962	Abnormal morphology of the great vessels	613	BCR	ORPHA:261330
HP:0030962	Abnormal morphology of the great vessels	1399	CRKL	ORPHA:261330
HP:0030962	Abnormal morphology of the great vessels	5594	MAPK1	ORPHA:261330
HP:0030962	Abnormal morphology of the great vessels	1277	COL1A1	OMIM:166200
HP:0030962	Abnormal morphology of the great vessels	113246	C12orf57	OMIM:218340
HP:0030962	Abnormal morphology of the great vessels	6497	SKI	OMIM:182212
HP:0030962	Abnormal morphology of the great vessels	25885	POLR1A	OMIM:616462
HP:0030962	Abnormal morphology of the great vessels	80204	FBXO11	OMIM:618089
HP:0030962	Abnormal morphology of the great vessels	3458	IFNG	ORPHA:805
HP:0030962	Abnormal morphology of the great vessels	7248	TSC1	ORPHA:805
HP:0030962	Abnormal morphology of the great vessels	7249	TSC2	ORPHA:805
HP:0030962	Abnormal morphology of the great vessels	7139	TNNT2	OMIM:612422
HP:0030962	Abnormal morphology of the great vessels	4621	MYH3	ORPHA:2990
HP:0030962	Abnormal morphology of the great vessels	1146	CHRNG	ORPHA:2990
HP:0030962	Abnormal morphology of the great vessels	64127	NOD2	ORPHA:90340
HP:0030962	Abnormal morphology of the great vessels	2317	FLNB	OMIM:150250
HP:0030962	Abnormal morphology of the great vessels	10535	RNASEH2A	ORPHA:51
HP:0030962	Abnormal morphology of the great vessels	84153	RNASEH2C	ORPHA:51
HP:0030962	Abnormal morphology of the great vessels	25939	SAMHD1	ORPHA:51
HP:0030962	Abnormal morphology of the great vessels	79621	RNASEH2B	ORPHA:51
HP:0030962	Abnormal morphology of the great vessels	103	ADAR	ORPHA:51
HP:0030962	Abnormal morphology of the great vessels	11277	TREX1	ORPHA:51
HP:0030962	Abnormal morphology of the great vessels	100147744	RNU7-1	ORPHA:51
HP:0030962	Abnormal morphology of the great vessels	134353	LSM11	ORPHA:51
HP:0030962	Abnormal morphology of the great vessels	64135	IFIH1	ORPHA:51
HP:0030962	Abnormal morphology of the great vessels	6874	TAF4	OMIM:620450
HP:0030962	Abnormal morphology of the great vessels	2201	FBN2	ORPHA:115
HP:0030962	Abnormal morphology of the great vessels	10491	CRTAP	OMIM:610682
HP:0030962	Abnormal morphology of the great vessels	55181	SMG8	OMIM:619268
HP:0030962	Abnormal morphology of the great vessels	3949	LDLR	ORPHA:391665
HP:0030962	Abnormal morphology of the great vessels	255738	PCSK9	ORPHA:391665
HP:0030962	Abnormal morphology of the great vessels	26119	LDLRAP1	ORPHA:391665
HP:0030962	Abnormal morphology of the great vessels	338	APOB	ORPHA:391665
HP:0030962	Abnormal morphology of the great vessels	64240	ABCG5	ORPHA:391665
HP:0030962	Abnormal morphology of the great vessels	64241	ABCG8	ORPHA:391665
HP:0030962	Abnormal morphology of the great vessels	2629	GBA1	OMIM:231005
HP:0030962	Abnormal morphology of the great vessels	2629	GBA1	ORPHA:77261
HP:0030962	Abnormal morphology of the great vessels	2629	GBA1	ORPHA:2072
HP:0030962	Abnormal morphology of the great vessels	10568	SLC34A2	ORPHA:60025
HP:0030962	Abnormal morphology of the great vessels	3977	LIFR	OMIM:601559
HP:0030962	Abnormal morphology of the great vessels	659	BMPR2	OMIM:178600
HP:0030962	Abnormal morphology of the great vessels	57551	TAOK1	OMIM:619575
HP:0030962	Abnormal morphology of the great vessels	8425	LTBP4	OMIM:613177
HP:0030962	Abnormal morphology of the great vessels	4052	LTBP1	ORPHA:90349
HP:0030962	Abnormal morphology of the great vessels	84720	PIGO	OMIM:614749
HP:0030962	Abnormal morphology of the great vessels	112752	IFT43	OMIM:614099
HP:0030962	Abnormal morphology of the great vessels	51085	MLXIPL	OMIM:194050
HP:0030962	Abnormal morphology of the great vessels	7058	THBS2	OMIM:620865
HP:0030962	Abnormal morphology of the great vessels	3593	IL12B	ORPHA:3287
HP:0030962	Abnormal morphology of the great vessels	6945	MLX	ORPHA:3287
HP:0030962	Abnormal morphology of the great vessels	2972	BRF1	ORPHA:444072
HP:0030962	Abnormal morphology of the great vessels	4067	LYN	OMIM:620376
HP:0030962	Abnormal morphology of the great vessels	10293	TRAIP	OMIM:616777
HP:0030962	Abnormal morphology of the great vessels	10157	AASS	ORPHA:2203
HP:0030962	Abnormal morphology of the great vessels	286053	NSMCE2	OMIM:617253
HP:0030962	Abnormal morphology of the great vessels	128	ADH5	OMIM:619151
HP:0030962	Abnormal morphology of the great vessels	79645	CLXN	OMIM:620642
HP:0030962	Abnormal morphology of the great vessels	7386	UQCRFS1	OMIM:618775
HP:0030962	Abnormal morphology of the great vessels	1161	ERCC8	OMIM:216400
HP:0030962	Abnormal morphology of the great vessels	8241	RBM10	ORPHA:2886
HP:0030962	Abnormal morphology of the great vessels	340419	RSPO2	OMIM:618021
HP:0030962	Abnormal morphology of the great vessels	7319	UBE2A	ORPHA:163956
HP:0030962	Abnormal morphology of the great vessels	10283	CWC27	ORPHA:166035
HP:0030962	Abnormal morphology of the great vessels	523	ATP6V1A	OMIM:617403
HP:0030962	Abnormal morphology of the great vessels	10370	CITED2	OMIM:614433
HP:0030962	Abnormal morphology of the great vessels	10370	CITED2	ORPHA:99105
HP:0030962	Abnormal morphology of the great vessels	134701	RIPPLY2	ORPHA:2311
HP:0030962	Abnormal morphology of the great vessels	10683	DLL3	ORPHA:2311
HP:0030962	Abnormal morphology of the great vessels	3955	LFNG	ORPHA:2311
HP:0030962	Abnormal morphology of the great vessels	84667	HES7	ORPHA:2311
HP:0030962	Abnormal morphology of the great vessels	145873	MESP2	ORPHA:2311
HP:0030962	Abnormal morphology of the great vessels	8243	SMC1A	OMIM:301044
HP:0030962	Abnormal morphology of the great vessels	5296	PIK3R2	OMIM:603387
HP:0030962	Abnormal morphology of the great vessels	129563	DIS3L2	OMIM:267000
HP:0030962	Abnormal morphology of the great vessels	56006	SMG9	OMIM:616920
HP:0030962	Abnormal morphology of the great vessels	2186	BPTF	ORPHA:529962
HP:0030962	Abnormal morphology of the great vessels	93986	FOXP2	ORPHA:251061
HP:0030962	Abnormal morphology of the great vessels	808	CALM3	OMIM:618782
HP:0030962	Abnormal morphology of the great vessels	6811	STX5	OMIM:620454
HP:0030962	Abnormal morphology of the great vessels	54892	NCAPG2	OMIM:618460
HP:0030962	Abnormal morphology of the great vessels	81857	MED25	ORPHA:464738
HP:0030962	Abnormal morphology of the great vessels	5567	PRKACB	OMIM:619143
HP:0030962	Abnormal morphology of the great vessels	51780	KDM3B	OMIM:618846
HP:0030962	Abnormal morphology of the great vessels	64093	SMOC1	OMIM:206920
HP:0030962	Abnormal morphology of the great vessels	6091	ROBO1	OMIM:620305
HP:0030962	Abnormal morphology of the great vessels	80232	WDR26	OMIM:617616
HP:0030962	Abnormal morphology of the great vessels	80232	WDR26	ORPHA:513456
HP:0030962	Abnormal morphology of the great vessels	93627	TBCK	OMIM:616900
HP:0030962	Abnormal morphology of the great vessels	9203	ZMYM3	OMIM:301111
HP:0030962	Abnormal morphology of the great vessels	388015	RTL1	ORPHA:96334
HP:0030962	Abnormal morphology of the great vessels	8788	DLK1	ORPHA:96334
HP:0030962	Abnormal morphology of the great vessels	55384	MEG3	ORPHA:96334
HP:0030962	Abnormal morphology of the great vessels	1312	COMT	ORPHA:567
HP:0030962	Abnormal morphology of the great vessels	221037	JMJD1C	ORPHA:567
HP:0030962	Abnormal morphology of the great vessels	2812	GP1BB	ORPHA:567
HP:0030962	Abnormal morphology of the great vessels	6239	RREB1	ORPHA:567
HP:0030962	Abnormal morphology of the great vessels	7290	HIRA	ORPHA:567
HP:0030962	Abnormal morphology of the great vessels	9632	SEC24C	ORPHA:567
HP:0030962	Abnormal morphology of the great vessels	7353	UFD1	ORPHA:567
HP:0030962	Abnormal morphology of the great vessels	421	ARVCF	ORPHA:567
HP:0030962	Abnormal morphology of the great vessels	57466	SCAF4	OMIM:620511
HP:0030962	Abnormal morphology of the great vessels	5518	PPP2R1A	ORPHA:457284
HP:0030962	Abnormal morphology of the great vessels	10195	ALG3	ORPHA:79321
HP:0030962	Abnormal morphology of the great vessels	4000	LMNA	ORPHA:363618
HP:0030962	Abnormal morphology of the great vessels	348	APOE	ORPHA:412
HP:0030962	Abnormal morphology of the great vessels	1581	CYP7A1	ORPHA:209902
HP:0030962	Abnormal morphology of the great vessels	126792	B3GALT6	ORPHA:536467
HP:0030962	Abnormal morphology of the great vessels	165	AEBP1	OMIM:618000
HP:0030962	Abnormal morphology of the great vessels	529	ATP6V1E1	OMIM:617402
HP:0030962	Abnormal morphology of the great vessels	25981	DNAH1	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	115948	ODAD3	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	54768	HYDIN	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	352909	DNAAF3	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	27148	STK36	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	51314	NME8	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	92749	DRC1	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	54970	TTC12	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	152110	NEK10	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	8481	OFD1	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	2302	FOXJ1	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	221421	RSPH9	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	85478	CCDC65	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	55036	CCDC40	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	51364	ZMYND10	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	64446	DNAI2	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	8382	NME5	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	6674	SPAG1	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	83544	DNAL1	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	89765	RSPH1	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	83538	ODAD4	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	200373	CFAP221	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	374407	DNAJB13	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	55172	DNAAF2	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	161582	DNAAF4	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	2622	GAS8	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	23639	DNAAF11	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	27019	DNAI1	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	345895	RSPH4A	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	54919	DNAAF5	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	6103	RPGR	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	85452	CFAP74	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	93233	ODAD1	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	55130	ODAD2	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	1767	DNAH5	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	83861	RSPH3	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	345643	MCIDAS	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	56683	CFAP298	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	79925	SPEF2	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	10309	CCNO	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	115399	LRRC56	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	139212	DNAAF6	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	123872	DNAAF1	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	85016	CFAP300	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	339829	CCDC39	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	8701	DNAH11	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	1770	DNAH9	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	246176	GAS2L2	ORPHA:244
HP:0030962	Abnormal morphology of the great vessels	9894	TELO2	ORPHA:488642
HP:0030962	Abnormal morphology of the great vessels	145173	B3GLCT	ORPHA:709
HP:0030962	Abnormal morphology of the great vessels	440275	EIF2AK4	ORPHA:199241
HP:0030962	Abnormal morphology of the great vessels	5580	PRKCD	OMIM:615559
HP:0030962	Abnormal morphology of the great vessels	8314	BAP1	ORPHA:50251
HP:0030962	Abnormal morphology of the great vessels	58499	ZNF462	OMIM:618619
HP:0030962	Abnormal morphology of the great vessels	55033	FKBP14	OMIM:614557
HP:0030962	Abnormal morphology of the great vessels	7528	YY1	OMIM:617557
HP:0030962	Abnormal morphology of the great vessels	168507	PKD1L1	OMIM:617205
HP:0030962	Abnormal morphology of the great vessels	8854	ALDH1A2	OMIM:620025
HP:0030962	Abnormal morphology of the great vessels	6326	SCN2A	ORPHA:293181
HP:0030962	Abnormal morphology of the great vessels	57468	SLC12A5	ORPHA:293181
HP:0030962	Abnormal morphology of the great vessels	23236	PLCB1	ORPHA:293181
HP:0030962	Abnormal morphology of the great vessels	3785	KCNQ2	ORPHA:293181
HP:0030962	Abnormal morphology of the great vessels	57582	KCNT1	ORPHA:293181
HP:0030962	Abnormal morphology of the great vessels	5277	PIGA	ORPHA:293181
HP:0030962	Abnormal morphology of the great vessels	6323	SCN1A	ORPHA:293181
HP:0030962	Abnormal morphology of the great vessels	79751	SLC25A22	ORPHA:293181
HP:0030962	Abnormal morphology of the great vessels	57465	TBC1D24	ORPHA:293181
HP:0030962	Abnormal morphology of the great vessels	2324	FLT4	OMIM:618780
HP:0030962	Abnormal morphology of the great vessels	23129	PLXND1	OMIM:620294
HP:0030962	Abnormal morphology of the great vessels	6439	SFTPB	OMIM:265120
HP:0001679	Abnormal aortic morphology	6910	TBX5	ORPHA:392
HP:0001679	Abnormal aortic morphology	23556	PIGN	ORPHA:2059
HP:0001679	Abnormal aortic morphology	3423	IDS	ORPHA:217085
HP:0001679	Abnormal aortic morphology	3423	IDS	ORPHA:217093
HP:0001679	Abnormal aortic morphology	9759	HDAC4	ORPHA:1001
HP:0001679	Abnormal aortic morphology	2260	FGFR1	ORPHA:2396
HP:0001679	Abnormal aortic morphology	3845	KRAS	ORPHA:2396
HP:0001679	Abnormal aortic morphology	64359	NXN	ORPHA:1507
HP:0001679	Abnormal aortic morphology	4920	ROR2	ORPHA:1507
HP:0001679	Abnormal aortic morphology	672	BRCA1	ORPHA:84
HP:0001679	Abnormal aortic morphology	10459	MAD2L2	ORPHA:84
HP:0001679	Abnormal aortic morphology	7516	XRCC2	ORPHA:84
HP:0001679	Abnormal aortic morphology	29089	UBE2T	ORPHA:84
HP:0001679	Abnormal aortic morphology	675	BRCA2	ORPHA:84
HP:0001679	Abnormal aortic morphology	55120	FANCL	ORPHA:84
HP:0001679	Abnormal aortic morphology	2177	FANCD2	ORPHA:84
HP:0001679	Abnormal aortic morphology	2175	FANCA	ORPHA:84
HP:0001679	Abnormal aortic morphology	2187	FANCB	ORPHA:84
HP:0001679	Abnormal aortic morphology	2176	FANCC	ORPHA:84
HP:0001679	Abnormal aortic morphology	2178	FANCE	ORPHA:84
HP:0001679	Abnormal aortic morphology	2188	FANCF	ORPHA:84
HP:0001679	Abnormal aortic morphology	2189	FANCG	ORPHA:84
HP:0001679	Abnormal aortic morphology	5888	RAD51	ORPHA:84
HP:0001679	Abnormal aortic morphology	5889	RAD51C	ORPHA:84
HP:0001679	Abnormal aortic morphology	55159	RFWD3	ORPHA:84
HP:0001679	Abnormal aortic morphology	83990	BRIP1	ORPHA:84
HP:0001679	Abnormal aortic morphology	57697	FANCM	ORPHA:84
HP:0001679	Abnormal aortic morphology	79728	PALB2	ORPHA:84
HP:0001679	Abnormal aortic morphology	84464	SLX4	ORPHA:84
HP:0001679	Abnormal aortic morphology	2072	ERCC4	ORPHA:84
HP:0001679	Abnormal aortic morphology	55215	FANCI	ORPHA:84
HP:0001679	Abnormal aortic morphology	2626	GATA4	ORPHA:251071
HP:0001679	Abnormal aortic morphology	9184	BUB3	ORPHA:1052
HP:0001679	Abnormal aortic morphology	699	BUB1	ORPHA:1052
HP:0001679	Abnormal aortic morphology	9702	CEP57	ORPHA:1052
HP:0001679	Abnormal aortic morphology	9319	TRIP13	ORPHA:1052
HP:0001679	Abnormal aortic morphology	701	BUB1B	ORPHA:1052
HP:0001679	Abnormal aortic morphology	2737	GLI3	ORPHA:672
HP:0001679	Abnormal aortic morphology	22827	PUF60	ORPHA:508498
HP:0001679	Abnormal aortic morphology	22827	PUF60	ORPHA:508488
HP:0001679	Abnormal aortic morphology	10128	LRPPRC	OMIM:220111
HP:0001679	Abnormal aortic morphology	2294	FOXF1	OMIM:265380
HP:0001679	Abnormal aortic morphology	8216	LZTR1	OMIM:616564
HP:0001679	Abnormal aortic morphology	8216	LZTR1	ORPHA:648
HP:0001679	Abnormal aortic morphology	8216	LZTR1	OMIM:605275
HP:0001679	Abnormal aortic morphology	123606	NIPA1	ORPHA:261183
HP:0001679	Abnormal aortic morphology	7283	TUBG1	ORPHA:261183
HP:0001679	Abnormal aortic morphology	81614	NIPA2	ORPHA:261183
HP:0001679	Abnormal aortic morphology	1024	CDK8	OMIM:618748
HP:0001679	Abnormal aortic morphology	100151683	RNU4ATAC	OMIM:210710
HP:0001679	Abnormal aortic morphology	132	ADK	OMIM:614300
HP:0001679	Abnormal aortic morphology	4091	SMAD6	OMIM:614823
HP:0001679	Abnormal aortic morphology	4091	SMAD6	ORPHA:402075
HP:0001679	Abnormal aortic morphology	79903	NAA60	OMIM:620786
HP:0001679	Abnormal aortic morphology	2657	GDF1	OMIM:613854
HP:0001679	Abnormal aortic morphology	5927	KDM5A	OMIM:620820
HP:0001679	Abnormal aortic morphology	79813	EHMT1	ORPHA:96147
HP:0001679	Abnormal aortic morphology	10992	SF3B2	OMIM:164210
HP:0001679	Abnormal aortic morphology	4838	NODAL	OMIM:270100
HP:0001679	Abnormal aortic morphology	4838	NODAL	ORPHA:280195
HP:0001679	Abnormal aortic morphology	64220	STRA6	OMIM:601186
HP:0001679	Abnormal aortic morphology	6888	TALDO1	ORPHA:101028
HP:0001679	Abnormal aortic morphology	6888	TALDO1	OMIM:606003
HP:0001679	Abnormal aortic morphology	7707	ZNF148	OMIM:617260
HP:0001679	Abnormal aortic morphology	7490	WT1	ORPHA:3097
HP:0001679	Abnormal aortic morphology	7490	WT1	OMIM:608978
HP:0001679	Abnormal aortic morphology	10847	SRCAP	OMIM:136140
HP:0001679	Abnormal aortic morphology	10847	SRCAP	ORPHA:2044
HP:0001679	Abnormal aortic morphology	1387	CREBBP	ORPHA:353281
HP:0001679	Abnormal aortic morphology	1387	CREBBP	OMIM:180849
HP:0001679	Abnormal aortic morphology	1387	CREBBP	ORPHA:353277
HP:0001679	Abnormal aortic morphology	89910	UBE3B	OMIM:244450
HP:0001679	Abnormal aortic morphology	4893	NRAS	OMIM:613224
HP:0001679	Abnormal aortic morphology	4893	NRAS	OMIM:163200
HP:0001679	Abnormal aortic morphology	4893	NRAS	ORPHA:648
HP:0001679	Abnormal aortic morphology	55784	MCTP2	ORPHA:1596
HP:0001679	Abnormal aortic morphology	8085	KMT2D	ORPHA:2322
HP:0001679	Abnormal aortic morphology	8085	KMT2D	OMIM:147920
HP:0001679	Abnormal aortic morphology	7403	KDM6A	ORPHA:2322
HP:0001679	Abnormal aortic morphology	7403	KDM6A	OMIM:300867
HP:0001679	Abnormal aortic morphology	7403	KDM6A	OMIM:147920
HP:0001679	Abnormal aortic morphology	2033	EP300	ORPHA:353284
HP:0001679	Abnormal aortic morphology	2033	EP300	OMIM:180849
HP:0001679	Abnormal aortic morphology	5053	PAH	ORPHA:2209
HP:0001679	Abnormal aortic morphology	7547	ZIC3	OMIM:306955
HP:0001679	Abnormal aortic morphology	4763	NF1	OMIM:162200
HP:0001679	Abnormal aortic morphology	4763	NF1	ORPHA:97685
HP:0001679	Abnormal aortic morphology	10735	STAG2	OMIM:301022
HP:0001679	Abnormal aortic morphology	1956	EGFR	OMIM:616069
HP:0001679	Abnormal aortic morphology	146862	UNC45B	OMIM:619178
HP:0001679	Abnormal aortic morphology	9968	MED12	ORPHA:93932
HP:0001679	Abnormal aortic morphology	9968	MED12	OMIM:301068
HP:0001679	Abnormal aortic morphology	1108	CHD4	OMIM:617159
HP:0001679	Abnormal aortic morphology	7026	NR2F2	OMIM:615779
HP:0001679	Abnormal aortic morphology	51057	WDPCP	OMIM:217085
HP:0001679	Abnormal aortic morphology	1000	CDH2	OMIM:618929
HP:0001679	Abnormal aortic morphology	4313	MMP2	ORPHA:371428
HP:0001679	Abnormal aortic morphology	4323	MMP14	ORPHA:371428
HP:0001679	Abnormal aortic morphology	1717	DHCR7	OMIM:270400
HP:0001679	Abnormal aortic morphology	9839	ZEB2	ORPHA:261552
HP:0001679	Abnormal aortic morphology	9839	ZEB2	ORPHA:261537
HP:0001679	Abnormal aortic morphology	5745	PTH1R	ORPHA:50945
HP:0001679	Abnormal aortic morphology	4212	MEIS2	OMIM:600987
HP:0001679	Abnormal aortic morphology	8802	SUCLG1	ORPHA:17
HP:0001679	Abnormal aortic morphology	1822	ATN1	OMIM:618494
HP:0001679	Abnormal aortic morphology	25	ABL1	OMIM:617602
HP:0001679	Abnormal aortic morphology	139285	AMER1	ORPHA:2780
HP:0001679	Abnormal aortic morphology	26834	RNU4-2	OMIM:620851
HP:0001679	Abnormal aortic morphology	55644	OSGEP	OMIM:617729
HP:0001679	Abnormal aortic morphology	5826	ABCD4	OMIM:614857
HP:0001679	Abnormal aortic morphology	8883	NAE1	OMIM:620210
HP:0001679	Abnormal aortic morphology	2313	FLI1	ORPHA:2308
HP:0001679	Abnormal aortic morphology	10664	CTCF	ORPHA:363611
HP:0001679	Abnormal aortic morphology	10664	CTCF	OMIM:615502
HP:0001679	Abnormal aortic morphology	65250	CPLANE1	OMIM:277170
HP:0001679	Abnormal aortic morphology	3265	HRAS	OMIM:163200
HP:0001679	Abnormal aortic morphology	83475	DOHH	OMIM:620066
HP:0001679	Abnormal aortic morphology	11198	SUPT16H	OMIM:619480
HP:0001679	Abnormal aortic morphology	4089	SMAD4	OMIM:139210
HP:0001679	Abnormal aortic morphology	28514	DLL1	ORPHA:280195
HP:0001679	Abnormal aortic morphology	2253	FGF8	ORPHA:280195
HP:0001679	Abnormal aortic morphology	6496	SIX3	ORPHA:280195
HP:0001679	Abnormal aortic morphology	7050	TGIF1	ORPHA:280195
HP:0001679	Abnormal aortic morphology	6469	SHH	ORPHA:280195
HP:0001679	Abnormal aortic morphology	7546	ZIC2	ORPHA:280195
HP:0001679	Abnormal aortic morphology	6491	STIL	ORPHA:280195
HP:0001679	Abnormal aortic morphology	2619	GAS1	ORPHA:280195
HP:0001679	Abnormal aortic morphology	84976	DISP1	ORPHA:280195
HP:0001679	Abnormal aortic morphology	2736	GLI2	ORPHA:280195
HP:0001679	Abnormal aortic morphology	8928	FOXH1	ORPHA:280195
HP:0001679	Abnormal aortic morphology	6997	CRIPTO	ORPHA:280195
HP:0001679	Abnormal aortic morphology	5727	PTCH1	ORPHA:280195
HP:0001679	Abnormal aortic morphology	50937	CDON	ORPHA:280195
HP:0001679	Abnormal aortic morphology	1654	DDX3X	ORPHA:3338
HP:0001679	Abnormal aortic morphology	57057	TBX20	OMIM:611363
HP:0001679	Abnormal aortic morphology	5500	PPP1CB	OMIM:617506
HP:0001679	Abnormal aortic morphology	182	JAG1	OMIM:118450
HP:0001679	Abnormal aortic morphology	4625	MYH7	OMIM:613426
HP:0001679	Abnormal aortic morphology	4851	NOTCH1	ORPHA:402075
HP:0001679	Abnormal aortic morphology	1482	NKX2-5	ORPHA:402075
HP:0001679	Abnormal aortic morphology	1482	NKX2-5	OMIM:217095
HP:0001679	Abnormal aortic morphology	140628	GATA5	ORPHA:402075
HP:0001679	Abnormal aortic morphology	6899	TBX1	OMIM:217095
HP:0001679	Abnormal aortic morphology	137814	NKX2-6	OMIM:217095
HP:0001679	Abnormal aortic morphology	2627	GATA6	OMIM:217095
HP:0001679	Abnormal aortic morphology	51322	WAC	ORPHA:284169
HP:0001679	Abnormal aortic morphology	84231	TRAF7	OMIM:618164
HP:0001679	Abnormal aortic morphology	23483	TGDS	OMIM:616145
HP:0001679	Abnormal aortic morphology	2006	ELN	ORPHA:90348
HP:0001679	Abnormal aortic morphology	10516	FBLN5	ORPHA:90348
HP:0001679	Abnormal aortic morphology	5832	ALDH18A1	ORPHA:90348
HP:0001679	Abnormal aortic morphology	5236	PGM1	OMIM:614921
HP:0001679	Abnormal aortic morphology	22800	RRAS2	ORPHA:648
HP:0001679	Abnormal aortic morphology	867	CBL	ORPHA:648
HP:0001679	Abnormal aortic morphology	6016	RIT1	ORPHA:648
HP:0001679	Abnormal aortic morphology	6237	RRAS	ORPHA:648
HP:0001679	Abnormal aortic morphology	5894	RAF1	ORPHA:648
HP:0001679	Abnormal aortic morphology	22808	MRAS	ORPHA:648
HP:0001679	Abnormal aortic morphology	200734	SPRED2	ORPHA:648
HP:0001679	Abnormal aortic morphology	6654	SOS1	ORPHA:648
HP:0001679	Abnormal aortic morphology	6655	SOS2	ORPHA:648
HP:0001679	Abnormal aortic morphology	6655	SOS2	OMIM:616559
HP:0001679	Abnormal aortic morphology	5781	PTPN11	ORPHA:648
HP:0001679	Abnormal aortic morphology	5781	PTPN11	OMIM:163950
HP:0001679	Abnormal aortic morphology	5922	RASA2	ORPHA:648
HP:0001679	Abnormal aortic morphology	9939	RBM8A	OMIM:274000
HP:0001679	Abnormal aortic morphology	6223	RPS19	OMIM:105650
HP:0001679	Abnormal aortic morphology	6223	RPS19	ORPHA:124
HP:0001679	Abnormal aortic morphology	6138	RPL15	ORPHA:124
HP:0001679	Abnormal aortic morphology	6224	RPS20	ORPHA:124
HP:0001679	Abnormal aortic morphology	6165	RPL35A	ORPHA:124
HP:0001679	Abnormal aortic morphology	6132	RPL8	ORPHA:124
HP:0001679	Abnormal aortic morphology	6232	RPS27	ORPHA:124
HP:0001679	Abnormal aortic morphology	55027	HEATR3	ORPHA:124
HP:0001679	Abnormal aortic morphology	6160	RPL31	ORPHA:124
HP:0001679	Abnormal aortic morphology	6201	RPS7	ORPHA:124
HP:0001679	Abnormal aortic morphology	6155	RPL27	ORPHA:124
HP:0001679	Abnormal aortic morphology	6234	RPS28	ORPHA:124
HP:0001679	Abnormal aortic morphology	6135	RPL11	ORPHA:124
HP:0001679	Abnormal aortic morphology	6229	RPS24	ORPHA:124
HP:0001679	Abnormal aortic morphology	6125	RPL5	ORPHA:124
HP:0001679	Abnormal aortic morphology	6204	RPS10	ORPHA:124
HP:0001679	Abnormal aortic morphology	2623	GATA1	ORPHA:124
HP:0001679	Abnormal aortic morphology	6133	RPL9	ORPHA:124
HP:0001679	Abnormal aortic morphology	6231	RPS26	ORPHA:124
HP:0001679	Abnormal aortic morphology	11224	RPL35	ORPHA:124
HP:0001679	Abnormal aortic morphology	6218	RPS17	ORPHA:124
HP:0001679	Abnormal aortic morphology	6154	RPL26	ORPHA:124
HP:0001679	Abnormal aortic morphology	6210	RPS15A	ORPHA:124
HP:0001679	Abnormal aortic morphology	90121	TSR2	ORPHA:124
HP:0001679	Abnormal aortic morphology	6141	RPL18	ORPHA:124
HP:0001679	Abnormal aortic morphology	6235	RPS29	ORPHA:124
HP:0001679	Abnormal aortic morphology	51816	ADA2	ORPHA:124
HP:0001679	Abnormal aortic morphology	6595	SMARCA2	OMIM:601358
HP:0001679	Abnormal aortic morphology	51626	DYNC2LI1	OMIM:617088
HP:0001679	Abnormal aortic morphology	8295	TRRAP	OMIM:618454
HP:0001679	Abnormal aortic morphology	54903	MKS1	OMIM:249000
HP:0001679	Abnormal aortic morphology	7543	ZFX	OMIM:301118
HP:0001679	Abnormal aortic morphology	2703	GJA8	OMIM:612474
HP:0001679	Abnormal aortic morphology	2702	GJA5	OMIM:612474
HP:0001679	Abnormal aortic morphology	4281	MID1	ORPHA:2745
HP:0001679	Abnormal aortic morphology	6736	SRY	ORPHA:1772
HP:0001679	Abnormal aortic morphology	100128908	CIROP	OMIM:619702
HP:0001679	Abnormal aortic morphology	9894	TELO2	OMIM:616954
HP:0001679	Abnormal aortic morphology	673	BRAF	OMIM:163950
HP:0001679	Abnormal aortic morphology	5604	MAP2K1	OMIM:163950
HP:0001679	Abnormal aortic morphology	1161	ERCC8	ORPHA:90324
HP:0001679	Abnormal aortic morphology	2074	ERCC6	ORPHA:90324
HP:0001679	Abnormal aortic morphology	490	ATP2B1	OMIM:619910
HP:0001679	Abnormal aortic morphology	1788	DNMT3A	ORPHA:404443
HP:0001679	Abnormal aortic morphology	27125	AFF4	ORPHA:444077
HP:0001679	Abnormal aortic morphology	1278	COL1A2	ORPHA:230851
HP:0001679	Abnormal aortic morphology	1289	COL5A1	OMIM:130000
HP:0001679	Abnormal aortic morphology	1289	COL5A1	ORPHA:287
HP:0001679	Abnormal aortic morphology	30008	EFEMP2	OMIM:614437
HP:0001679	Abnormal aortic morphology	51726	DNAJB11	ORPHA:730
HP:0001679	Abnormal aortic morphology	23193	GANAB	ORPHA:730
HP:0001679	Abnormal aortic morphology	5310	PKD1	ORPHA:730
HP:0001679	Abnormal aortic morphology	5311	PKD2	ORPHA:730
HP:0001679	Abnormal aortic morphology	29880	ALG5	ORPHA:730
HP:0001679	Abnormal aortic morphology	9742	IFT140	ORPHA:730
HP:0001679	Abnormal aortic morphology	79796	ALG9	ORPHA:730
HP:0001679	Abnormal aortic morphology	80114	BICC1	ORPHA:730
HP:0001679	Abnormal aortic morphology	2332	FMR1	ORPHA:449291
HP:0001679	Abnormal aortic morphology	84665	MYPN	ORPHA:171881
HP:0001679	Abnormal aortic morphology	7169	TPM2	ORPHA:171881
HP:0001679	Abnormal aortic morphology	7170	TPM3	ORPHA:171881
HP:0001679	Abnormal aortic morphology	3756	KCNH1	OMIM:135500
HP:0001679	Abnormal aortic morphology	5238	PGM3	OMIM:615816
HP:0001679	Abnormal aortic morphology	1290	COL5A2	ORPHA:287
HP:0001679	Abnormal aortic morphology	9469	CHST3	OMIM:245600
HP:0001679	Abnormal aortic morphology	26229	B3GAT3	OMIM:245600
HP:0001679	Abnormal aortic morphology	4883	NPR3	OMIM:619543
HP:0001679	Abnormal aortic morphology	79576	NKAP	OMIM:301039
HP:0001679	Abnormal aortic morphology	833	CARS1	OMIM:618891
HP:0001679	Abnormal aortic morphology	23384	SPECC1L	OMIM:145420
HP:0001679	Abnormal aortic morphology	5908	RAP1B	OMIM:620654
HP:0001679	Abnormal aortic morphology	10743	RAI1	ORPHA:477817
HP:0001679	Abnormal aortic morphology	91754	NEK9	OMIM:617022
HP:0001679	Abnormal aortic morphology	23395	LARS2	OMIM:617021
HP:0001679	Abnormal aortic morphology	54539	NDUFB11	OMIM:309801
HP:0001679	Abnormal aortic morphology	1349	COX7B	OMIM:309801
HP:0001679	Abnormal aortic morphology	3052	HCCS	OMIM:309801
HP:0001679	Abnormal aortic morphology	55636	CHD7	OMIM:214800
HP:0001679	Abnormal aortic morphology	6804	STX1A	ORPHA:904
HP:0001679	Abnormal aortic morphology	7461	CLIP2	ORPHA:904
HP:0001679	Abnormal aortic morphology	84277	DNAJC30	ORPHA:904
HP:0001679	Abnormal aortic morphology	8468	FKBP6	ORPHA:904
HP:0001679	Abnormal aortic morphology	5982	RFC2	ORPHA:904
HP:0001679	Abnormal aortic morphology	2969	GTF2I	ORPHA:904
HP:0001679	Abnormal aortic morphology	3984	LIMK1	ORPHA:904
HP:0001679	Abnormal aortic morphology	9569	GTF2IRD1	ORPHA:904
HP:0001679	Abnormal aortic morphology	155382	VPS37D	ORPHA:904
HP:0001679	Abnormal aortic morphology	155368	METTL27	ORPHA:904
HP:0001679	Abnormal aortic morphology	114049	BUD23	ORPHA:904
HP:0001679	Abnormal aortic morphology	7458	EIF4H	ORPHA:904
HP:0001679	Abnormal aortic morphology	84163	GTF2IRD2	ORPHA:904
HP:0001679	Abnormal aortic morphology	26608	TBL2	ORPHA:904
HP:0001679	Abnormal aortic morphology	653361	NCF1	ORPHA:904
HP:0001679	Abnormal aortic morphology	135886	TMEM270	ORPHA:904
HP:0001679	Abnormal aortic morphology	9031	BAZ1B	ORPHA:904
HP:0001679	Abnormal aortic morphology	2263	FGFR2	OMIM:101200
HP:0001679	Abnormal aortic morphology	78987	CRELD1	OMIM:606217
HP:0001679	Abnormal aortic morphology	26191	PTPN22	ORPHA:397
HP:0001679	Abnormal aortic morphology	3106	HLA-B	ORPHA:397
HP:0001679	Abnormal aortic morphology	3123	HLA-DRB1	ORPHA:397
HP:0001679	Abnormal aortic morphology	8974	P4HA2	ORPHA:397
HP:0001679	Abnormal aortic morphology	4088	SMAD3	ORPHA:284984
HP:0001679	Abnormal aortic morphology	4088	SMAD3	OMIM:613795
HP:0001679	Abnormal aortic morphology	4088	SMAD3	ORPHA:60030
HP:0001679	Abnormal aortic morphology	4088	SMAD3	ORPHA:91387
HP:0001679	Abnormal aortic morphology	1281	COL3A1	OMIM:618343
HP:0001679	Abnormal aortic morphology	1281	COL3A1	ORPHA:286
HP:0001679	Abnormal aortic morphology	1281	COL3A1	ORPHA:231160
HP:0001679	Abnormal aortic morphology	2200	FBN1	OMIM:154700
HP:0001679	Abnormal aortic morphology	2200	FBN1	ORPHA:91387
HP:0001679	Abnormal aortic morphology	5167	ENPP1	ORPHA:51608
HP:0001679	Abnormal aortic morphology	368	ABCC6	ORPHA:51608
HP:0001679	Abnormal aortic morphology	4629	MYH11	OMIM:132900
HP:0001679	Abnormal aortic morphology	4629	MYH11	ORPHA:229
HP:0001679	Abnormal aortic morphology	4629	MYH11	ORPHA:91387
HP:0001679	Abnormal aortic morphology	81031	SLC2A10	ORPHA:3342
HP:0001679	Abnormal aortic morphology	5351	PLOD1	ORPHA:1900
HP:0001679	Abnormal aortic morphology	633	BGN	OMIM:300989
HP:0001679	Abnormal aortic morphology	7046	TGFBR1	ORPHA:60030
HP:0001679	Abnormal aortic morphology	7046	TGFBR1	ORPHA:91387
HP:0001679	Abnormal aortic morphology	10526	IPO8	ORPHA:60030
HP:0001679	Abnormal aortic morphology	7048	TGFBR2	ORPHA:60030
HP:0001679	Abnormal aortic morphology	7048	TGFBR2	ORPHA:91387
HP:0001679	Abnormal aortic morphology	7042	TGFB2	ORPHA:60030
HP:0001679	Abnormal aortic morphology	7042	TGFB2	OMIM:614816
HP:0001679	Abnormal aortic morphology	7042	TGFB2	ORPHA:91387
HP:0001679	Abnormal aortic morphology	7043	TGFB3	ORPHA:60030
HP:0001679	Abnormal aortic morphology	7043	TGFB3	ORPHA:91387
HP:0001679	Abnormal aortic morphology	4087	SMAD2	ORPHA:60030
HP:0001679	Abnormal aortic morphology	4087	SMAD2	ORPHA:91387
HP:0001679	Abnormal aortic morphology	4015	LOX	ORPHA:91387
HP:0001679	Abnormal aortic morphology	59	ACTA2	ORPHA:91387
HP:0001679	Abnormal aortic morphology	5592	PRKG1	ORPHA:91387
HP:0001679	Abnormal aortic morphology	2301	FOXE3	ORPHA:91387
HP:0001679	Abnormal aortic morphology	4144	MAT2A	ORPHA:91387
HP:0001679	Abnormal aortic morphology	23493	HEY2	ORPHA:91387
HP:0001679	Abnormal aortic morphology	8076	MFAP5	ORPHA:91387
HP:0001679	Abnormal aortic morphology	4638	MYLK	ORPHA:91387
HP:0001679	Abnormal aortic morphology	79875	THSD4	ORPHA:91387
HP:0001679	Abnormal aortic morphology	55901	THSD1	ORPHA:231160
HP:0001679	Abnormal aortic morphology	7049	TGFBR3	ORPHA:231160
HP:0001679	Abnormal aortic morphology	83854	ANGPTL6	ORPHA:231160
HP:0001679	Abnormal aortic morphology	2022	ENG	ORPHA:231160
HP:0001679	Abnormal aortic morphology	11117	EMILIN1	OMIM:620080
HP:0001679	Abnormal aortic morphology	54538	ROBO4	OMIM:618496
HP:0001679	Abnormal aortic morphology	375	ARF1	ORPHA:98892
HP:0001679	Abnormal aortic morphology	4131	MAP1B	ORPHA:98892
HP:0001679	Abnormal aortic morphology	2316	FLNA	ORPHA:98892
HP:0001679	Abnormal aortic morphology	23327	NEDD4L	ORPHA:98892
HP:0001679	Abnormal aortic morphology	160418	TMTC3	ORPHA:98892
HP:0001679	Abnormal aortic morphology	10564	ARFGEF2	ORPHA:98892
HP:0001679	Abnormal aortic morphology	55780	ERMARD	ORPHA:98892
HP:0001679	Abnormal aortic morphology	23118	TAB2	OMIM:614980
HP:0001679	Abnormal aortic morphology	6711	SPTBN1	OMIM:619475
HP:0001679	Abnormal aortic morphology	29957	SLC25A24	OMIM:612289
HP:0001679	Abnormal aortic morphology	3081	HGD	OMIM:203500
HP:0001679	Abnormal aortic morphology	3081	HGD	ORPHA:56
HP:0001679	Abnormal aortic morphology	5728	PTEN	ORPHA:109
HP:0001679	Abnormal aortic morphology	64324	NSD1	ORPHA:821
HP:0001679	Abnormal aortic morphology	10297	APC2	ORPHA:821
HP:0001679	Abnormal aortic morphology	3190	HNRNPK	ORPHA:453504
HP:0001679	Abnormal aortic morphology	3190	HNRNPK	ORPHA:352665
HP:0001679	Abnormal aortic morphology	51611	DPH5	OMIM:620070
HP:0001679	Abnormal aortic morphology	284058	KANSL1	ORPHA:363965
HP:0001679	Abnormal aortic morphology	284058	KANSL1	ORPHA:363958
HP:0001679	Abnormal aortic morphology	54453	RIN2	ORPHA:217335
HP:0001679	Abnormal aortic morphology	54453	RIN2	OMIM:613075
HP:0001679	Abnormal aortic morphology	4854	NOTCH3	OMIM:130720
HP:0001679	Abnormal aortic morphology	613	BCR	ORPHA:261330
HP:0001679	Abnormal aortic morphology	1399	CRKL	ORPHA:261330
HP:0001679	Abnormal aortic morphology	5594	MAPK1	ORPHA:261330
HP:0001679	Abnormal aortic morphology	1277	COL1A1	OMIM:166200
HP:0001679	Abnormal aortic morphology	113246	C12orf57	OMIM:218340
HP:0001679	Abnormal aortic morphology	6497	SKI	OMIM:182212
HP:0001679	Abnormal aortic morphology	25885	POLR1A	OMIM:616462
HP:0001679	Abnormal aortic morphology	80204	FBXO11	OMIM:618089
HP:0001679	Abnormal aortic morphology	3458	IFNG	ORPHA:805
HP:0001679	Abnormal aortic morphology	7248	TSC1	ORPHA:805
HP:0001679	Abnormal aortic morphology	7249	TSC2	ORPHA:805
HP:0001679	Abnormal aortic morphology	7139	TNNT2	OMIM:612422
HP:0001679	Abnormal aortic morphology	4621	MYH3	ORPHA:2990
HP:0001679	Abnormal aortic morphology	1146	CHRNG	ORPHA:2990
HP:0001679	Abnormal aortic morphology	64127	NOD2	ORPHA:90340
HP:0001679	Abnormal aortic morphology	2317	FLNB	OMIM:150250
HP:0001679	Abnormal aortic morphology	10535	RNASEH2A	ORPHA:51
HP:0001679	Abnormal aortic morphology	84153	RNASEH2C	ORPHA:51
HP:0001679	Abnormal aortic morphology	25939	SAMHD1	ORPHA:51
HP:0001679	Abnormal aortic morphology	79621	RNASEH2B	ORPHA:51
HP:0001679	Abnormal aortic morphology	103	ADAR	ORPHA:51
HP:0001679	Abnormal aortic morphology	11277	TREX1	ORPHA:51
HP:0001679	Abnormal aortic morphology	100147744	RNU7-1	ORPHA:51
HP:0001679	Abnormal aortic morphology	134353	LSM11	ORPHA:51
HP:0001679	Abnormal aortic morphology	64135	IFIH1	ORPHA:51
HP:0001679	Abnormal aortic morphology	6874	TAF4	OMIM:620450
HP:0001679	Abnormal aortic morphology	2201	FBN2	ORPHA:115
HP:0001679	Abnormal aortic morphology	3949	LDLR	ORPHA:391665
HP:0001679	Abnormal aortic morphology	255738	PCSK9	ORPHA:391665
HP:0001679	Abnormal aortic morphology	26119	LDLRAP1	ORPHA:391665
HP:0001679	Abnormal aortic morphology	338	APOB	ORPHA:391665
HP:0001679	Abnormal aortic morphology	64240	ABCG5	ORPHA:391665
HP:0001679	Abnormal aortic morphology	64241	ABCG8	ORPHA:391665
HP:0001679	Abnormal aortic morphology	2629	GBA1	OMIM:231005
HP:0001679	Abnormal aortic morphology	2629	GBA1	ORPHA:77261
HP:0001679	Abnormal aortic morphology	2629	GBA1	ORPHA:2072
HP:0001679	Abnormal aortic morphology	10568	SLC34A2	ORPHA:60025
HP:0001679	Abnormal aortic morphology	10269	ZMPSTE24	ORPHA:1662
HP:0001679	Abnormal aortic morphology	7058	THBS2	OMIM:620865
HP:0001679	Abnormal aortic morphology	3593	IL12B	ORPHA:3287
HP:0001679	Abnormal aortic morphology	6945	MLX	ORPHA:3287
HP:0001679	Abnormal aortic morphology	171019	ADAMTS19	OMIM:620067
HP:0001679	Abnormal aortic morphology	2972	BRF1	ORPHA:444072
HP:0001679	Abnormal aortic morphology	4067	LYN	OMIM:620376
HP:0001679	Abnormal aortic morphology	286053	NSMCE2	OMIM:617253
HP:0001679	Abnormal aortic morphology	5590	PRKCZ	ORPHA:1606
HP:0001679	Abnormal aortic morphology	2563	GABRD	ORPHA:1606
HP:0001679	Abnormal aortic morphology	23013	SPEN	ORPHA:1606
HP:0001679	Abnormal aortic morphology	8510	MMP23B	ORPHA:1606
HP:0001679	Abnormal aortic morphology	7798	LUZP1	ORPHA:1606
HP:0001679	Abnormal aortic morphology	10630	PDPN	ORPHA:1606
HP:0001679	Abnormal aortic morphology	3339	HSPG2	ORPHA:1606
HP:0001679	Abnormal aortic morphology	10277	UBE4B	ORPHA:1606
HP:0001679	Abnormal aortic morphology	8514	KCNAB2	ORPHA:1606
HP:0001679	Abnormal aortic morphology	473	RERE	ORPHA:1606
HP:0001679	Abnormal aortic morphology	63976	PRDM16	ORPHA:1606
HP:0001679	Abnormal aortic morphology	54897	CASZ1	ORPHA:1606
HP:0001679	Abnormal aortic morphology	523	ATP6V1A	OMIM:617403
HP:0001679	Abnormal aortic morphology	5296	PIK3R2	OMIM:603387
HP:0001679	Abnormal aortic morphology	5337	PLD1	OMIM:212093
HP:0001679	Abnormal aortic morphology	745	MYRF	OMIM:618280
HP:0001679	Abnormal aortic morphology	129563	DIS3L2	OMIM:267000
HP:0001679	Abnormal aortic morphology	4613	MYCN	ORPHA:391641
HP:0001679	Abnormal aortic morphology	4613	MYCN	OMIM:164280
HP:0001679	Abnormal aortic morphology	56006	SMG9	OMIM:616920
HP:0001679	Abnormal aortic morphology	54916	TMEM260	OMIM:617478
HP:0001679	Abnormal aortic morphology	54487	DGCR8	OMIM:192430
HP:0001679	Abnormal aortic morphology	8214	DGCR6	OMIM:192430
HP:0001679	Abnormal aortic morphology	8220	ESS2	OMIM:192430
HP:0001679	Abnormal aortic morphology	9993	DGCR2	OMIM:192430
HP:0001679	Abnormal aortic morphology	118856	MMP21	OMIM:616749
HP:0001679	Abnormal aortic morphology	9723	SEMA3E	ORPHA:138
HP:0001679	Abnormal aortic morphology	1770	DNAH9	OMIM:618300
HP:0001679	Abnormal aortic morphology	79989	IFT56	OMIM:619534
HP:0001679	Abnormal aortic morphology	25981	DNAH1	OMIM:617577
HP:0001679	Abnormal aortic morphology	93	ACVR2B	OMIM:613751
HP:0001679	Abnormal aortic morphology	80232	WDR26	OMIM:617616
HP:0001679	Abnormal aortic morphology	80232	WDR26	ORPHA:513456
HP:0001679	Abnormal aortic morphology	93627	TBCK	OMIM:616900
HP:0001679	Abnormal aortic morphology	79645	CLXN	OMIM:620642
HP:0001679	Abnormal aortic morphology	9203	ZMYM3	OMIM:301111
HP:0001679	Abnormal aortic morphology	220136	CFAP53	OMIM:614779
HP:0001679	Abnormal aortic morphology	388015	RTL1	ORPHA:96334
HP:0001679	Abnormal aortic morphology	8788	DLK1	ORPHA:96334
HP:0001679	Abnormal aortic morphology	55384	MEG3	ORPHA:96334
HP:0001679	Abnormal aortic morphology	1312	COMT	ORPHA:567
HP:0001679	Abnormal aortic morphology	221037	JMJD1C	ORPHA:567
HP:0001679	Abnormal aortic morphology	2812	GP1BB	ORPHA:567
HP:0001679	Abnormal aortic morphology	6239	RREB1	ORPHA:567
HP:0001679	Abnormal aortic morphology	7290	HIRA	ORPHA:567
HP:0001679	Abnormal aortic morphology	9632	SEC24C	ORPHA:567
HP:0001679	Abnormal aortic morphology	7353	UFD1	ORPHA:567
HP:0001679	Abnormal aortic morphology	421	ARVCF	ORPHA:567
HP:0001679	Abnormal aortic morphology	54880	BCOR	OMIM:300166
HP:0001679	Abnormal aortic morphology	6885	MAP3K7	OMIM:157800
HP:0001679	Abnormal aortic morphology	2697	GJA1	ORPHA:2248
HP:0001679	Abnormal aortic morphology	2783	GNB2	OMIM:619503
HP:0001679	Abnormal aortic morphology	57466	SCAF4	OMIM:620511
HP:0001679	Abnormal aortic morphology	5518	PPP2R1A	ORPHA:457284
HP:0001679	Abnormal aortic morphology	10195	ALG3	ORPHA:79321
HP:0001679	Abnormal aortic morphology	4000	LMNA	ORPHA:363618
HP:0001679	Abnormal aortic morphology	348	APOE	ORPHA:412
HP:0001679	Abnormal aortic morphology	1581	CYP7A1	ORPHA:209902
HP:0001679	Abnormal aortic morphology	126792	B3GALT6	ORPHA:536467
HP:0001679	Abnormal aortic morphology	165	AEBP1	OMIM:618000
HP:0001679	Abnormal aortic morphology	529	ATP6V1E1	OMIM:617402
HP:0001679	Abnormal aortic morphology	55033	FKBP14	OMIM:614557
HP:0001679	Abnormal aortic morphology	7528	YY1	OMIM:617557
HP:0001679	Abnormal aortic morphology	168507	PKD1L1	OMIM:617205
HP:0001679	Abnormal aortic morphology	8854	ALDH1A2	OMIM:620025
HP:0001679	Abnormal aortic morphology	6326	SCN2A	ORPHA:293181
HP:0001679	Abnormal aortic morphology	57468	SLC12A5	ORPHA:293181
HP:0001679	Abnormal aortic morphology	23236	PLCB1	ORPHA:293181
HP:0001679	Abnormal aortic morphology	3785	KCNQ2	ORPHA:293181
HP:0001679	Abnormal aortic morphology	57582	KCNT1	ORPHA:293181
HP:0001679	Abnormal aortic morphology	5277	PIGA	ORPHA:293181
HP:0001679	Abnormal aortic morphology	6323	SCN1A	ORPHA:293181
HP:0001679	Abnormal aortic morphology	79751	SLC25A22	ORPHA:293181
HP:0001679	Abnormal aortic morphology	57465	TBC1D24	ORPHA:293181
HP:0001679	Abnormal aortic morphology	2324	FLT4	OMIM:618780
HP:0001679	Abnormal aortic morphology	23129	PLXND1	OMIM:620294
HP:0030966	Abnormal pulmonary artery morphology	9968	MED12	OMIM:301068
HP:0030966	Abnormal pulmonary artery morphology	2006	ELN	OMIM:185500
HP:0030966	Abnormal pulmonary artery morphology	2294	FOXF1	OMIM:265380
HP:0030966	Abnormal pulmonary artery morphology	6899	TBX1	ORPHA:3384
HP:0030966	Abnormal pulmonary artery morphology	137814	NKX2-6	ORPHA:3384
HP:0030966	Abnormal pulmonary artery morphology	23129	PLXND1	ORPHA:3384
HP:0030966	Abnormal pulmonary artery morphology	6134	RPL10	OMIM:300998
HP:0030966	Abnormal pulmonary artery morphology	6134	RPL10	ORPHA:459070
HP:0030966	Abnormal pulmonary artery morphology	6134	RPL10	ORPHA:435938
HP:0030966	Abnormal pulmonary artery morphology	81031	SLC2A10	OMIM:208050
HP:0030966	Abnormal pulmonary artery morphology	81031	SLC2A10	ORPHA:3342
HP:0030966	Abnormal pulmonary artery morphology	25885	POLR1A	OMIM:616462
HP:0030966	Abnormal pulmonary artery morphology	8260	NAA10	OMIM:300855
HP:0030966	Abnormal pulmonary artery morphology	8260	NAA10	ORPHA:276432
HP:0030966	Abnormal pulmonary artery morphology	1272	CNTN1	OMIM:612540
HP:0030966	Abnormal pulmonary artery morphology	10082	GPC6	OMIM:258315
HP:0030966	Abnormal pulmonary artery morphology	9487	PIGL	OMIM:280000
HP:0030966	Abnormal pulmonary artery morphology	9681	DEPDC5	OMIM:620504
HP:0030966	Abnormal pulmonary artery morphology	64919	BCL11B	OMIM:617237
HP:0030966	Abnormal pulmonary artery morphology	57514	ARHGAP31	OMIM:100300
HP:0030966	Abnormal pulmonary artery morphology	2627	GATA6	ORPHA:2255
HP:0030966	Abnormal pulmonary artery morphology	2627	GATA6	OMIM:600001
HP:0030966	Abnormal pulmonary artery morphology	85459	CEP295	OMIM:620767
HP:0030966	Abnormal pulmonary artery morphology	22800	RRAS2	ORPHA:648
HP:0030966	Abnormal pulmonary artery morphology	867	CBL	ORPHA:648
HP:0030966	Abnormal pulmonary artery morphology	8216	LZTR1	ORPHA:648
HP:0030966	Abnormal pulmonary artery morphology	8216	LZTR1	OMIM:605275
HP:0030966	Abnormal pulmonary artery morphology	6016	RIT1	ORPHA:648
HP:0030966	Abnormal pulmonary artery morphology	6237	RRAS	ORPHA:648
HP:0030966	Abnormal pulmonary artery morphology	5894	RAF1	ORPHA:648
HP:0030966	Abnormal pulmonary artery morphology	22808	MRAS	ORPHA:648
HP:0030966	Abnormal pulmonary artery morphology	3845	KRAS	ORPHA:648
HP:0030966	Abnormal pulmonary artery morphology	200734	SPRED2	ORPHA:648
HP:0030966	Abnormal pulmonary artery morphology	4893	NRAS	ORPHA:648
HP:0030966	Abnormal pulmonary artery morphology	6654	SOS1	ORPHA:648
HP:0030966	Abnormal pulmonary artery morphology	6655	SOS2	ORPHA:648
HP:0030966	Abnormal pulmonary artery morphology	5781	PTPN11	ORPHA:648
HP:0030966	Abnormal pulmonary artery morphology	5922	RASA2	ORPHA:648
HP:0030966	Abnormal pulmonary artery morphology	7486	WRN	ORPHA:902
HP:0030966	Abnormal pulmonary artery morphology	54361	WNT4	OMIM:611812
HP:0030966	Abnormal pulmonary artery morphology	9839	ZEB2	OMIM:235730
HP:0030966	Abnormal pulmonary artery morphology	415	ARSL	ORPHA:79345
HP:0030966	Abnormal pulmonary artery morphology	10312	TCIRG1	ORPHA:667
HP:0030966	Abnormal pulmonary artery morphology	1186	CLCN7	ORPHA:667
HP:0030966	Abnormal pulmonary artery morphology	29887	SNX10	ORPHA:667
HP:0030966	Abnormal pulmonary artery morphology	8600	TNFSF11	ORPHA:667
HP:0030966	Abnormal pulmonary artery morphology	2626	GATA4	ORPHA:251071
HP:0030966	Abnormal pulmonary artery morphology	5422	POLA1	OMIM:301030
HP:0030966	Abnormal pulmonary artery morphology	93233	ODAD1	OMIM:615067
HP:0030966	Abnormal pulmonary artery morphology	4256	MGP	ORPHA:85202
HP:0030966	Abnormal pulmonary artery morphology	92002	CCNQ	ORPHA:140952
HP:0030966	Abnormal pulmonary artery morphology	1482	NKX2-5	OMIM:614432
HP:0030966	Abnormal pulmonary artery morphology	388015	RTL1	ORPHA:96334
HP:0030966	Abnormal pulmonary artery morphology	8788	DLK1	ORPHA:96334
HP:0030966	Abnormal pulmonary artery morphology	55384	MEG3	ORPHA:96334
HP:0030966	Abnormal pulmonary artery morphology	30008	EFEMP2	OMIM:614437
HP:0030966	Abnormal pulmonary artery morphology	59	ACTA2	OMIM:613834
HP:0030966	Abnormal pulmonary artery morphology	171019	ADAMTS19	OMIM:620067
HP:0030966	Abnormal pulmonary artery morphology	79989	IFT56	OMIM:619534
HP:0030966	Abnormal pulmonary artery morphology	2200	FBN1	OMIM:154700
HP:0030966	Abnormal pulmonary artery morphology	7092	TLL1	ORPHA:99106
HP:0030966	Abnormal pulmonary artery morphology	5337	PLD1	OMIM:212093
HP:0030966	Abnormal pulmonary artery morphology	78987	CRELD1	OMIM:606217
HP:0030966	Abnormal pulmonary artery morphology	84231	TRAF7	OMIM:618164
HP:0030966	Abnormal pulmonary artery morphology	2324	FLT4	OMIM:618780
HP:0030966	Abnormal pulmonary artery morphology	2657	GDF1	OMIM:208530
HP:0030966	Abnormal pulmonary artery morphology	2657	GDF1	OMIM:613854
HP:0030966	Abnormal pulmonary artery morphology	93	ACVR2B	OMIM:613751
HP:0030966	Abnormal pulmonary artery morphology	23476	BRD4	OMIM:620568
HP:0030966	Abnormal pulmonary artery morphology	118856	MMP21	OMIM:616749
HP:0030966	Abnormal pulmonary artery morphology	8772	FADD	OMIM:613759
HP:0030966	Abnormal pulmonary artery morphology	8772	FADD	ORPHA:306550
HP:0030966	Abnormal pulmonary artery morphology	4838	NODAL	OMIM:270100
HP:0030966	Abnormal pulmonary artery morphology	64220	STRA6	OMIM:601186
HP:0030966	Abnormal pulmonary artery morphology	6597	SMARCA4	OMIM:614609
HP:0030966	Abnormal pulmonary artery morphology	55593	OTUD5	OMIM:301056
HP:0030966	Abnormal pulmonary artery morphology	1857	DVL3	OMIM:616894
HP:0030966	Abnormal pulmonary artery morphology	168507	PKD1L1	OMIM:617205
HP:0030966	Abnormal pulmonary artery morphology	55636	CHD7	OMIM:214800
HP:0030966	Abnormal pulmonary artery morphology	9772	TMEM94	OMIM:618316
HP:0030966	Abnormal pulmonary artery morphology	100128908	CIROP	OMIM:619702
HP:0030966	Abnormal pulmonary artery morphology	54487	DGCR8	OMIM:192430
HP:0030966	Abnormal pulmonary artery morphology	8214	DGCR6	OMIM:192430
HP:0030966	Abnormal pulmonary artery morphology	8220	ESS2	OMIM:192430
HP:0030966	Abnormal pulmonary artery morphology	9993	DGCR2	OMIM:192430
HP:0030966	Abnormal pulmonary artery morphology	118924	FRA10AC1	OMIM:620113
HP:0030966	Abnormal pulmonary artery morphology	3516	RBPJ	ORPHA:974
HP:0030966	Abnormal pulmonary artery morphology	4851	NOTCH1	ORPHA:974
HP:0030966	Abnormal pulmonary artery morphology	57572	DOCK6	ORPHA:974
HP:0030966	Abnormal pulmonary artery morphology	285203	EOGT	ORPHA:974
HP:0030966	Abnormal pulmonary artery morphology	54567	DLL4	ORPHA:974
HP:0030966	Abnormal pulmonary artery morphology	90952	ESAM	OMIM:620371
HP:0030966	Abnormal pulmonary artery morphology	7046	TGFBR1	OMIM:609192
HP:0030966	Abnormal pulmonary artery morphology	7048	TGFBR2	OMIM:610168
HP:0030966	Abnormal pulmonary artery morphology	1281	COL3A1	ORPHA:286
HP:0030966	Abnormal pulmonary artery morphology	1289	COL5A1	OMIM:619329
HP:0030966	Abnormal pulmonary artery morphology	633	BGN	OMIM:300989
HP:0030966	Abnormal pulmonary artery morphology	10526	IPO8	OMIM:619472
HP:0030966	Abnormal pulmonary artery morphology	10491	CRTAP	OMIM:610682
HP:0030966	Abnormal pulmonary artery morphology	55181	SMG8	OMIM:619268
HP:0030966	Abnormal pulmonary artery morphology	3977	LIFR	OMIM:601559
HP:0030966	Abnormal pulmonary artery morphology	659	BMPR2	OMIM:178600
HP:0030966	Abnormal pulmonary artery morphology	57551	TAOK1	OMIM:619575
HP:0030966	Abnormal pulmonary artery morphology	182	JAG1	OMIM:617992
HP:0030966	Abnormal pulmonary artery morphology	182	JAG1	OMIM:118450
HP:0030966	Abnormal pulmonary artery morphology	54880	BCOR	ORPHA:2712
HP:0030966	Abnormal pulmonary artery morphology	8425	LTBP4	OMIM:613177
HP:0030966	Abnormal pulmonary artery morphology	10516	FBLN5	ORPHA:90348
HP:0030966	Abnormal pulmonary artery morphology	10516	FBLN5	ORPHA:90349
HP:0030966	Abnormal pulmonary artery morphology	10516	FBLN5	OMIM:219100
HP:0030966	Abnormal pulmonary artery morphology	5832	ALDH18A1	ORPHA:90348
HP:0030966	Abnormal pulmonary artery morphology	4052	LTBP1	ORPHA:90349
HP:0030966	Abnormal pulmonary artery morphology	6804	STX1A	ORPHA:904
HP:0030966	Abnormal pulmonary artery morphology	7461	CLIP2	ORPHA:904
HP:0030966	Abnormal pulmonary artery morphology	84277	DNAJC30	ORPHA:904
HP:0030966	Abnormal pulmonary artery morphology	8468	FKBP6	ORPHA:904
HP:0030966	Abnormal pulmonary artery morphology	5982	RFC2	ORPHA:904
HP:0030966	Abnormal pulmonary artery morphology	2969	GTF2I	ORPHA:904
HP:0030966	Abnormal pulmonary artery morphology	3984	LIMK1	ORPHA:904
HP:0030966	Abnormal pulmonary artery morphology	9569	GTF2IRD1	ORPHA:904
HP:0030966	Abnormal pulmonary artery morphology	155382	VPS37D	ORPHA:904
HP:0030966	Abnormal pulmonary artery morphology	155368	METTL27	ORPHA:904
HP:0030966	Abnormal pulmonary artery morphology	114049	BUD23	ORPHA:904
HP:0030966	Abnormal pulmonary artery morphology	7458	EIF4H	ORPHA:904
HP:0030966	Abnormal pulmonary artery morphology	84163	GTF2IRD2	ORPHA:904
HP:0030966	Abnormal pulmonary artery morphology	26608	TBL2	ORPHA:904
HP:0030966	Abnormal pulmonary artery morphology	653361	NCF1	ORPHA:904
HP:0030966	Abnormal pulmonary artery morphology	135886	TMEM270	ORPHA:904
HP:0030966	Abnormal pulmonary artery morphology	9031	BAZ1B	ORPHA:904
HP:0030966	Abnormal pulmonary artery morphology	84720	PIGO	OMIM:614749
HP:0030966	Abnormal pulmonary artery morphology	4853	NOTCH2	OMIM:610205
HP:0030966	Abnormal pulmonary artery morphology	23556	PIGN	ORPHA:280633
HP:0030966	Abnormal pulmonary artery morphology	112752	IFT43	OMIM:614099
HP:0030966	Abnormal pulmonary artery morphology	2260	FGFR1	OMIM:613001
HP:0030966	Abnormal pulmonary artery morphology	9652	SKIC3	ORPHA:84064
HP:0030966	Abnormal pulmonary artery morphology	6499	SKIC2	ORPHA:84064
HP:0030966	Abnormal pulmonary artery morphology	5500	PPP1CB	OMIM:617506
HP:0030966	Abnormal pulmonary artery morphology	7319	UBE2A	ORPHA:163956
HP:0030966	Abnormal pulmonary artery morphology	51085	MLXIPL	OMIM:194050
HP:0030966	Abnormal pulmonary artery morphology	10293	TRAIP	OMIM:616777
HP:0030966	Abnormal pulmonary artery morphology	10157	AASS	ORPHA:2203
HP:0030966	Abnormal pulmonary artery morphology	4625	MYH7	OMIM:613426
HP:0030966	Abnormal pulmonary artery morphology	8854	ALDH1A2	OMIM:620025
HP:0030966	Abnormal pulmonary artery morphology	28952	CCDC22	OMIM:300963
HP:0030967	Abnormal pulmonary artery physiology	659	BMPR2	OMIM:178600
HP:0030968	Abnormal pulmonary vein morphology	7547	ZIC3	OMIM:306955
HP:0030968	Abnormal pulmonary vein morphology	6210	RPS15A	OMIM:618313
HP:0030968	Abnormal pulmonary vein morphology	123606	NIPA1	ORPHA:261183
HP:0030968	Abnormal pulmonary vein morphology	7283	TUBG1	ORPHA:261183
HP:0030968	Abnormal pulmonary vein morphology	81614	NIPA2	ORPHA:261183
HP:0030968	Abnormal pulmonary vein morphology	998	CDC42	ORPHA:487796
HP:0030968	Abnormal pulmonary vein morphology	93	ACVR2B	OMIM:613751
HP:0030968	Abnormal pulmonary vein morphology	220136	CFAP53	OMIM:614779
HP:0030968	Abnormal pulmonary vein morphology	2719	GPC3	OMIM:312870
HP:0030968	Abnormal pulmonary vein morphology	2239	GPC4	OMIM:312870
HP:0030968	Abnormal pulmonary vein morphology	118856	MMP21	OMIM:616749
HP:0030968	Abnormal pulmonary vein morphology	4838	NODAL	OMIM:270100
HP:0030968	Abnormal pulmonary vein morphology	164781	DAW1	OMIM:620570
HP:0030968	Abnormal pulmonary vein morphology	10491	CRTAP	OMIM:610682
HP:0030968	Abnormal pulmonary vein morphology	2657	GDF1	OMIM:613854
HP:0030968	Abnormal pulmonary vein morphology	340419	RSPO2	OMIM:618021
HP:0030968	Abnormal pulmonary vein morphology	659	BMPR2	OMIM:265450
HP:0030968	Abnormal pulmonary vein morphology	25981	DNAH1	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	115948	ODAD3	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	54768	HYDIN	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	352909	DNAAF3	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	27148	STK36	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	51314	NME8	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	92749	DRC1	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	54970	TTC12	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	152110	NEK10	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	8481	OFD1	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	2302	FOXJ1	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	221421	RSPH9	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	85478	CCDC65	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	55036	CCDC40	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	51364	ZMYND10	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	64446	DNAI2	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	8382	NME5	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	6674	SPAG1	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	83544	DNAL1	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	89765	RSPH1	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	83538	ODAD4	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	200373	CFAP221	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	374407	DNAJB13	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	55172	DNAAF2	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	161582	DNAAF4	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	2622	GAS8	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	23639	DNAAF11	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	27019	DNAI1	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	345895	RSPH4A	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	54919	DNAAF5	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	6103	RPGR	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	85452	CFAP74	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	93233	ODAD1	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	55130	ODAD2	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	1767	DNAH5	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	83861	RSPH3	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	345643	MCIDAS	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	56683	CFAP298	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	79925	SPEF2	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	10309	CCNO	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	115399	LRRC56	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	139212	DNAAF6	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	123872	DNAAF1	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	85016	CFAP300	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	339829	CCDC39	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	8701	DNAH11	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	1770	DNAH9	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	246176	GAS2L2	ORPHA:244
HP:0030968	Abnormal pulmonary vein morphology	7490	WT1	ORPHA:3097
HP:0030968	Abnormal pulmonary vein morphology	1718	DHCR24	ORPHA:35107
HP:0030968	Abnormal pulmonary vein morphology	6910	TBX5	ORPHA:392
HP:0030968	Abnormal pulmonary vein morphology	473	RERE	OMIM:616975
HP:0030968	Abnormal pulmonary vein morphology	10370	CITED2	OMIM:614433
HP:0030968	Abnormal pulmonary vein morphology	10370	CITED2	ORPHA:99105
HP:0030968	Abnormal pulmonary vein morphology	27125	AFF4	OMIM:616368
HP:0030968	Abnormal pulmonary vein morphology	134701	RIPPLY2	ORPHA:2311
HP:0030968	Abnormal pulmonary vein morphology	10683	DLL3	ORPHA:2311
HP:0030968	Abnormal pulmonary vein morphology	3955	LFNG	ORPHA:2311
HP:0030968	Abnormal pulmonary vein morphology	84667	HES7	ORPHA:2311
HP:0030968	Abnormal pulmonary vein morphology	145873	MESP2	ORPHA:2311
HP:0030968	Abnormal pulmonary vein morphology	4087	SMAD2	OMIM:619657
HP:0030968	Abnormal pulmonary vein morphology	745	MYRF	OMIM:618280
HP:0030968	Abnormal pulmonary vein morphology	9968	MED12	OMIM:301068
HP:0030968	Abnormal pulmonary vein morphology	8243	SMC1A	OMIM:301044
HP:0030968	Abnormal pulmonary vein morphology	54916	TMEM260	OMIM:617478
HP:0030968	Abnormal pulmonary vein morphology	100128908	CIROP	OMIM:619702
HP:0030968	Abnormal pulmonary vein morphology	8085	KMT2D	OMIM:147920
HP:0030968	Abnormal pulmonary vein morphology	7403	KDM6A	OMIM:147920
HP:0030968	Abnormal pulmonary vein morphology	145173	B3GLCT	ORPHA:709
HP:0030968	Abnormal pulmonary vein morphology	440275	EIF2AK4	ORPHA:199241
HP:0030968	Abnormal pulmonary vein morphology	6439	SFTPB	OMIM:265120
HP:0030968	Abnormal pulmonary vein morphology	2294	FOXF1	OMIM:265380
HP:0001873	Thrombocytopenia	201595	STT3B	OMIM:615597
HP:0001873	Thrombocytopenia	201595	STT3B	ORPHA:370924
HP:0001873	Thrombocytopenia	22800	RRAS2	OMIM:618624
HP:0001873	Thrombocytopenia	1736	DKC1	OMIM:305000
HP:0001873	Thrombocytopenia	1736	DKC1	ORPHA:3322
HP:0001873	Thrombocytopenia	1736	DKC1	ORPHA:1775
HP:0001873	Thrombocytopenia	5604	MAP2K1	ORPHA:389
HP:0001873	Thrombocytopenia	4893	NRAS	ORPHA:389
HP:0001873	Thrombocytopenia	673	BRAF	ORPHA:389
HP:0001873	Thrombocytopenia	114803	MYSM1	ORPHA:508542
HP:0001873	Thrombocytopenia	114803	MYSM1	OMIM:618116
HP:0001873	Thrombocytopenia	2175	FANCA	OMIM:227650
HP:0001873	Thrombocytopenia	2175	FANCA	ORPHA:84
HP:0001873	Thrombocytopenia	2120	ETV6	OMIM:616216
HP:0001873	Thrombocytopenia	166378	AFG2A	OMIM:616577
HP:0001873	Thrombocytopenia	166378	AFG2A	ORPHA:457351
HP:0001873	Thrombocytopenia	5184	PEPD	OMIM:170100
HP:0001873	Thrombocytopenia	65082	VPS33A	OMIM:617303
HP:0001873	Thrombocytopenia	65082	VPS33A	ORPHA:505248
HP:0001873	Thrombocytopenia	4790	NFKB1	OMIM:616576
HP:0001873	Thrombocytopenia	8526	DGKE	OMIM:615008
HP:0001873	Thrombocytopenia	2188	FANCF	OMIM:603467
HP:0001873	Thrombocytopenia	2188	FANCF	ORPHA:84
HP:0001873	Thrombocytopenia	8029	CUBN	ORPHA:35858
HP:0001873	Thrombocytopenia	81693	AMN	ORPHA:35858
HP:0001873	Thrombocytopenia	10559	SLC35A1	OMIM:603585
HP:0001873	Thrombocytopenia	10559	SLC35A1	ORPHA:238459
HP:0001873	Thrombocytopenia	219285	SAMD9L	OMIM:159550
HP:0001873	Thrombocytopenia	219285	SAMD9L	OMIM:252270
HP:0001873	Thrombocytopenia	103	ADAR	OMIM:615010
HP:0001873	Thrombocytopenia	6573	SLC19A1	OMIM:620603
HP:0001873	Thrombocytopenia	5155	PDGFB	ORPHA:1980
HP:0001873	Thrombocytopenia	9213	XPR1	ORPHA:1980
HP:0001873	Thrombocytopenia	5159	PDGFRB	ORPHA:1980
HP:0001873	Thrombocytopenia	57462	MYORG	ORPHA:1980
HP:0001873	Thrombocytopenia	6575	SLC20A2	ORPHA:1980
HP:0001873	Thrombocytopenia	58494	JAM2	ORPHA:1980
HP:0001873	Thrombocytopenia	1716	DGUOK	OMIM:251880
HP:0001873	Thrombocytopenia	1130	LYST	ORPHA:167
HP:0001873	Thrombocytopenia	1130	LYST	OMIM:214500
HP:0001873	Thrombocytopenia	861	RUNX1	OMIM:601399
HP:0001873	Thrombocytopenia	861	RUNX1	ORPHA:521
HP:0001873	Thrombocytopenia	861	RUNX1	ORPHA:98850
HP:0001873	Thrombocytopenia	26258	BLOC1S6	OMIM:614171
HP:0001873	Thrombocytopenia	7386	UQCRFS1	OMIM:618775
HP:0001873	Thrombocytopenia	5442	POLRMT	OMIM:619743
HP:0001873	Thrombocytopenia	2313	FLI1	OMIM:617443
HP:0001873	Thrombocytopenia	2313	FLI1	ORPHA:2308
HP:0001873	Thrombocytopenia	2623	GATA1	OMIM:314050
HP:0001873	Thrombocytopenia	2623	GATA1	ORPHA:124
HP:0001873	Thrombocytopenia	2623	GATA1	OMIM:300835
HP:0001873	Thrombocytopenia	2623	GATA1	ORPHA:231393
HP:0001873	Thrombocytopenia	2623	GATA1	ORPHA:79277
HP:0001873	Thrombocytopenia	80739	MPIG6B	OMIM:617441
HP:0001873	Thrombocytopenia	56992	KIF15	OMIM:619981
HP:0001873	Thrombocytopenia	56992	KIF15	ORPHA:261323
HP:0001873	Thrombocytopenia	950	SCARB2	OMIM:254900
HP:0001873	Thrombocytopenia	950	SCARB2	ORPHA:77259
HP:0001873	Thrombocytopenia	3981	LIG4	ORPHA:235
HP:0001873	Thrombocytopenia	3981	LIG4	OMIM:606593
HP:0001873	Thrombocytopenia	54888	NSUN2	ORPHA:235
HP:0001873	Thrombocytopenia	9056	SLC7A7	ORPHA:470
HP:0001873	Thrombocytopenia	9056	SLC7A7	OMIM:222700
HP:0001873	Thrombocytopenia	6772	STAT1	ORPHA:391487
HP:0001873	Thrombocytopenia	3572	IL6ST	OMIM:619751
HP:0001873	Thrombocytopenia	54914	FOCAD	OMIM:619991
HP:0001873	Thrombocytopenia	57167	SALL4	OMIM:147750
HP:0001873	Thrombocytopenia	57167	SALL4	ORPHA:2307
HP:0001873	Thrombocytopenia	51284	TLR7	OMIM:301080
HP:0001873	Thrombocytopenia	51284	TLR7	ORPHA:536
HP:0001873	Thrombocytopenia	166785	MMAA	OMIM:251100
HP:0001873	Thrombocytopenia	5896	RAG1	OMIM:603554
HP:0001873	Thrombocytopenia	5896	RAG1	ORPHA:331206
HP:0001873	Thrombocytopenia	5897	RAG2	OMIM:603554
HP:0001873	Thrombocytopenia	5897	RAG2	ORPHA:331206
HP:0001873	Thrombocytopenia	64421	DCLRE1C	OMIM:603554
HP:0001873	Thrombocytopenia	5551	PRF1	OMIM:603553
HP:0001873	Thrombocytopenia	5551	PRF1	ORPHA:540
HP:0001873	Thrombocytopenia	5551	PRF1	ORPHA:88
HP:0001873	Thrombocytopenia	8676	STX11	OMIM:603552
HP:0001873	Thrombocytopenia	8676	STX11	ORPHA:540
HP:0001873	Thrombocytopenia	11234	HPS5	OMIM:614074
HP:0001873	Thrombocytopenia	57169	ZNFX1	OMIM:619644
HP:0001873	Thrombocytopenia	150274	HSCB	OMIM:619523
HP:0001873	Thrombocytopenia	11311	VPS45	OMIM:615285
HP:0001873	Thrombocytopenia	50485	SMARCAL1	ORPHA:1830
HP:0001873	Thrombocytopenia	50485	SMARCAL1	OMIM:242900
HP:0001873	Thrombocytopenia	10020	GNE	OMIM:620757
HP:0001873	Thrombocytopenia	2542	SLC37A4	OMIM:619525
HP:0001873	Thrombocytopenia	7841	MOGS	ORPHA:79330
HP:0001873	Thrombocytopenia	540	ATP7B	OMIM:277900
HP:0001873	Thrombocytopenia	540	ATP7B	ORPHA:905
HP:0001873	Thrombocytopenia	19	ABCA1	ORPHA:31150
HP:0001873	Thrombocytopenia	9968	MED12	OMIM:301068
HP:0001873	Thrombocytopenia	2189	FANCG	OMIM:614082
HP:0001873	Thrombocytopenia	2189	FANCG	ORPHA:84
HP:0001873	Thrombocytopenia	5692	PSMB4	OMIM:617591
HP:0001873	Thrombocytopenia	6603	SMARCD2	OMIM:617475
HP:0001873	Thrombocytopenia	3717	JAK2	OMIM:263300
HP:0001873	Thrombocytopenia	3717	JAK2	ORPHA:824
HP:0001873	Thrombocytopenia	25836	NIPBL	OMIM:122470
HP:0001873	Thrombocytopenia	3930	LBR	OMIM:169400
HP:0001873	Thrombocytopenia	79087	ALG12	ORPHA:79324
HP:0001873	Thrombocytopenia	79053	ALG8	ORPHA:79325
HP:0001873	Thrombocytopenia	79053	ALG8	OMIM:608104
HP:0001873	Thrombocytopenia	51311	TLR8	OMIM:301078
HP:0001873	Thrombocytopenia	6138	RPL15	ORPHA:124
HP:0001873	Thrombocytopenia	6224	RPS20	ORPHA:124
HP:0001873	Thrombocytopenia	6165	RPL35A	ORPHA:124
HP:0001873	Thrombocytopenia	6132	RPL8	ORPHA:124
HP:0001873	Thrombocytopenia	6223	RPS19	ORPHA:124
HP:0001873	Thrombocytopenia	6223	RPS19	OMIM:105650
HP:0001873	Thrombocytopenia	6232	RPS27	ORPHA:124
HP:0001873	Thrombocytopenia	55027	HEATR3	ORPHA:124
HP:0001873	Thrombocytopenia	55027	HEATR3	OMIM:620072
HP:0001873	Thrombocytopenia	6160	RPL31	ORPHA:124
HP:0001873	Thrombocytopenia	6201	RPS7	ORPHA:124
HP:0001873	Thrombocytopenia	6155	RPL27	ORPHA:124
HP:0001873	Thrombocytopenia	6234	RPS28	ORPHA:124
HP:0001873	Thrombocytopenia	6135	RPL11	ORPHA:124
HP:0001873	Thrombocytopenia	6229	RPS24	ORPHA:124
HP:0001873	Thrombocytopenia	6125	RPL5	ORPHA:124
HP:0001873	Thrombocytopenia	6204	RPS10	ORPHA:124
HP:0001873	Thrombocytopenia	6133	RPL9	ORPHA:124
HP:0001873	Thrombocytopenia	6231	RPS26	ORPHA:124
HP:0001873	Thrombocytopenia	11224	RPL35	ORPHA:124
HP:0001873	Thrombocytopenia	6218	RPS17	ORPHA:124
HP:0001873	Thrombocytopenia	6154	RPL26	ORPHA:124
HP:0001873	Thrombocytopenia	6210	RPS15A	ORPHA:124
HP:0001873	Thrombocytopenia	90121	TSR2	ORPHA:124
HP:0001873	Thrombocytopenia	6141	RPL18	ORPHA:124
HP:0001873	Thrombocytopenia	6235	RPS29	ORPHA:124
HP:0001873	Thrombocytopenia	51816	ADA2	ORPHA:124
HP:0001873	Thrombocytopenia	2629	GBA1	ORPHA:77261
HP:0001873	Thrombocytopenia	2629	GBA1	ORPHA:77260
HP:0001873	Thrombocytopenia	2629	GBA1	ORPHA:77259
HP:0001873	Thrombocytopenia	2629	GBA1	OMIM:230800
HP:0001873	Thrombocytopenia	2629	GBA1	ORPHA:2072
HP:0001873	Thrombocytopenia	2629	GBA1	OMIM:230900
HP:0001873	Thrombocytopenia	2629	GBA1	OMIM:608013
HP:0001873	Thrombocytopenia	2629	GBA1	OMIM:231000
HP:0001873	Thrombocytopenia	2629	GBA1	ORPHA:85212
HP:0001873	Thrombocytopenia	51645	PPIL1	OMIM:619301
HP:0001873	Thrombocytopenia	51362	CDC40	OMIM:619302
HP:0001873	Thrombocytopenia	81570	CLPB	OMIM:616271
HP:0001873	Thrombocytopenia	10459	MAD2L2	OMIM:617243
HP:0001873	Thrombocytopenia	10459	MAD2L2	ORPHA:84
HP:0001873	Thrombocytopenia	335	APOA1	OMIM:620657
HP:0001873	Thrombocytopenia	5908	RAP1B	OMIM:620654
HP:0001873	Thrombocytopenia	6730	SRP68	OMIM:620534
HP:0001873	Thrombocytopenia	2582	GALE	OMIM:620776
HP:0001873	Thrombocytopenia	6654	SOS1	OMIM:610733
HP:0001873	Thrombocytopenia	5277	PIGA	OMIM:301072
HP:0001873	Thrombocytopenia	5277	PIGA	ORPHA:447
HP:0001873	Thrombocytopenia	5277	PIGA	OMIM:300868
HP:0001873	Thrombocytopenia	78987	CRELD1	OMIM:620771
HP:0001873	Thrombocytopenia	4594	MMUT	ORPHA:79312
HP:0001873	Thrombocytopenia	4594	MMUT	ORPHA:289916
HP:0001873	Thrombocytopenia	4594	MMUT	OMIM:251000
HP:0001873	Thrombocytopenia	87	ACTN1	OMIM:615193
HP:0001873	Thrombocytopenia	1729	DIAPH1	ORPHA:494444
HP:0001873	Thrombocytopenia	1729	DIAPH1	OMIM:124900
HP:0001873	Thrombocytopenia	2048	EPHB2	OMIM:618462
HP:0001873	Thrombocytopenia	2187	FANCB	OMIM:300514
HP:0001873	Thrombocytopenia	2187	FANCB	ORPHA:84
HP:0001873	Thrombocytopenia	3659	IRF1	OMIM:620668
HP:0001873	Thrombocytopenia	2653	GCSH	OMIM:620423
HP:0001873	Thrombocytopenia	4179	CD46	OMIM:612922
HP:0001873	Thrombocytopenia	4179	CD46	ORPHA:244242
HP:0001873	Thrombocytopenia	6916	TBXAS1	OMIM:231095
HP:0001873	Thrombocytopenia	629	CFB	OMIM:612924
HP:0001873	Thrombocytopenia	3426	CFI	OMIM:612923
HP:0001873	Thrombocytopenia	3426	CFI	ORPHA:244242
HP:0001873	Thrombocytopenia	959	CD40LG	OMIM:308230
HP:0001873	Thrombocytopenia	7056	THBD	OMIM:612926
HP:0001873	Thrombocytopenia	718	C3	OMIM:612925
HP:0001873	Thrombocytopenia	54790	TET2	ORPHA:75564
HP:0001873	Thrombocytopenia	54790	TET2	ORPHA:98850
HP:0001873	Thrombocytopenia	54790	TET2	ORPHA:98849
HP:0001873	Thrombocytopenia	54790	TET2	ORPHA:824
HP:0001873	Thrombocytopenia	54790	TET2	ORPHA:98826
HP:0001873	Thrombocytopenia	23451	SF3B1	ORPHA:75564
HP:0001873	Thrombocytopenia	201294	UNC13D	ORPHA:540
HP:0001873	Thrombocytopenia	6813	STXBP2	ORPHA:540
HP:0001873	Thrombocytopenia	6813	STXBP2	OMIM:613101
HP:0001873	Thrombocytopenia	6888	TALDO1	ORPHA:101028
HP:0001873	Thrombocytopenia	6888	TALDO1	OMIM:606003
HP:0001873	Thrombocytopenia	58484	NLRC4	OMIM:616050
HP:0001873	Thrombocytopenia	29887	SNX10	OMIM:615085
HP:0001873	Thrombocytopenia	11277	TREX1	OMIM:225750
HP:0001873	Thrombocytopenia	11277	TREX1	ORPHA:536
HP:0001873	Thrombocytopenia	11277	TREX1	OMIM:152700
HP:0001873	Thrombocytopenia	23395	LARS2	OMIM:617021
HP:0001873	Thrombocytopenia	6729	SRP54	OMIM:260400
HP:0001873	Thrombocytopenia	51119	SBDS	OMIM:260400
HP:0001873	Thrombocytopenia	51119	SBDS	ORPHA:811
HP:0001873	Thrombocytopenia	51119	SBDS	ORPHA:88
HP:0001873	Thrombocytopenia	134218	DNAJC21	OMIM:260400
HP:0001873	Thrombocytopenia	134218	DNAJC21	OMIM:617052
HP:0001873	Thrombocytopenia	134218	DNAJC21	ORPHA:811
HP:0001873	Thrombocytopenia	5568	PRKACG	OMIM:616176
HP:0001873	Thrombocytopenia	55215	FANCI	OMIM:609053
HP:0001873	Thrombocytopenia	55215	FANCI	ORPHA:84
HP:0001873	Thrombocytopenia	29927	SEC61A1	OMIM:620674
HP:0001873	Thrombocytopenia	4952	OCRL	ORPHA:534
HP:0001873	Thrombocytopenia	4068	SH2D1A	OMIM:308240
HP:0001873	Thrombocytopenia	331	XIAP	OMIM:308240
HP:0001873	Thrombocytopenia	2215	FCGR3B	ORPHA:536
HP:0001873	Thrombocytopenia	6775	STAT4	ORPHA:536
HP:0001873	Thrombocytopenia	6775	STAT4	ORPHA:93552
HP:0001873	Thrombocytopenia	3684	ITGAM	ORPHA:536
HP:0001873	Thrombocytopenia	3586	IL10	ORPHA:536
HP:0001873	Thrombocytopenia	221895	JAZF1	ORPHA:536
HP:0001873	Thrombocytopenia	7292	TNFSF4	ORPHA:536
HP:0001873	Thrombocytopenia	640	BLK	ORPHA:536
HP:0001873	Thrombocytopenia	720	C4A	ORPHA:536
HP:0001873	Thrombocytopenia	55024	BANK1	ORPHA:536
HP:0001873	Thrombocytopenia	3500	IGHG1	ORPHA:536
HP:0001873	Thrombocytopenia	3654	IRAK1	ORPHA:536
HP:0001873	Thrombocytopenia	3654	IRAK1	ORPHA:93552
HP:0001873	Thrombocytopenia	1493	CTLA4	ORPHA:536
HP:0001873	Thrombocytopenia	1493	CTLA4	OMIM:152700
HP:0001873	Thrombocytopenia	26191	PTPN22	ORPHA:536
HP:0001873	Thrombocytopenia	26191	PTPN22	OMIM:152700
HP:0001873	Thrombocytopenia	1380	CR2	ORPHA:536
HP:0001873	Thrombocytopenia	5133	PDCD1	ORPHA:536
HP:0001873	Thrombocytopenia	2113	ETS1	ORPHA:536
HP:0001873	Thrombocytopenia	2213	FCGR2B	ORPHA:536
HP:0001873	Thrombocytopenia	2213	FCGR2B	OMIM:152700
HP:0001873	Thrombocytopenia	10318	TNIP1	ORPHA:536
HP:0001873	Thrombocytopenia	7332	UBE2L3	ORPHA:536
HP:0001873	Thrombocytopenia	79932	KIAA0319L	ORPHA:536
HP:0001873	Thrombocytopenia	4204	MECP2	ORPHA:536
HP:0001873	Thrombocytopenia	3663	IRF5	ORPHA:536
HP:0001873	Thrombocytopenia	3123	HLA-DRB1	ORPHA:536
HP:0001873	Thrombocytopenia	3123	HLA-DRB1	ORPHA:797
HP:0001873	Thrombocytopenia	721	C4B	ORPHA:536
HP:0001873	Thrombocytopenia	1773	DNASE1	ORPHA:536
HP:0001873	Thrombocytopenia	1773	DNASE1	OMIM:152700
HP:0001873	Thrombocytopenia	6696	SPP1	ORPHA:536
HP:0001873	Thrombocytopenia	6696	SPP1	ORPHA:93552
HP:0001873	Thrombocytopenia	54899	PXK	ORPHA:536
HP:0001873	Thrombocytopenia	7128	TNFAIP3	ORPHA:536
HP:0001873	Thrombocytopenia	7128	TNFAIP3	OMIM:616744
HP:0001873	Thrombocytopenia	23218	NBEAL2	OMIM:139090
HP:0001873	Thrombocytopenia	23218	NBEAL2	ORPHA:721
HP:0001873	Thrombocytopenia	427	ASAH1	ORPHA:333
HP:0001873	Thrombocytopenia	537	ATP6AP1	OMIM:300972
HP:0001873	Thrombocytopenia	7922	SLC39A7	OMIM:619693
HP:0001873	Thrombocytopenia	50619	DEF6	OMIM:619573
HP:0001873	Thrombocytopenia	8260	NAA10	OMIM:300855
HP:0001873	Thrombocytopenia	3394	IRF8	OMIM:226990
HP:0001873	Thrombocytopenia	11274	USP18	OMIM:617397
HP:0001873	Thrombocytopenia	1312	COMT	ORPHA:567
HP:0001873	Thrombocytopenia	221037	JMJD1C	ORPHA:567
HP:0001873	Thrombocytopenia	2812	GP1BB	ORPHA:567
HP:0001873	Thrombocytopenia	2812	GP1BB	OMIM:231200
HP:0001873	Thrombocytopenia	6239	RREB1	ORPHA:567
HP:0001873	Thrombocytopenia	6899	TBX1	ORPHA:567
HP:0001873	Thrombocytopenia	6899	TBX1	OMIM:188400
HP:0001873	Thrombocytopenia	7290	HIRA	ORPHA:567
HP:0001873	Thrombocytopenia	9632	SEC24C	ORPHA:567
HP:0001873	Thrombocytopenia	7353	UFD1	ORPHA:567
HP:0001873	Thrombocytopenia	421	ARVCF	ORPHA:567
HP:0001873	Thrombocytopenia	55750	AGK	OMIM:212350
HP:0001873	Thrombocytopenia	4627	MYH9	OMIM:155100
HP:0001873	Thrombocytopenia	22852	ANKRD26	OMIM:188000
HP:0001873	Thrombocytopenia	26276	VPS33B	OMIM:208085
HP:0001873	Thrombocytopenia	546	ATRX	ORPHA:231401
HP:0001873	Thrombocytopenia	55340	GIMAP5	OMIM:619463
HP:0001873	Thrombocytopenia	25939	SAMHD1	OMIM:612952
HP:0001873	Thrombocytopenia	56244	BTNL2	ORPHA:797
HP:0001873	Thrombocytopenia	5660	PSAP	OMIM:610539
HP:0001873	Thrombocytopenia	54809	SAMD9	OMIM:617053
HP:0001873	Thrombocytopenia	54809	SAMD9	OMIM:619041
HP:0001873	Thrombocytopenia	55505	NOP10	OMIM:224230
HP:0001873	Thrombocytopenia	55505	NOP10	ORPHA:1775
HP:0001873	Thrombocytopenia	55651	NHP2	OMIM:224230
HP:0001873	Thrombocytopenia	55651	NHP2	OMIM:613987
HP:0001873	Thrombocytopenia	55651	NHP2	ORPHA:1775
HP:0001873	Thrombocytopenia	8567	MADD	OMIM:619004
HP:0001873	Thrombocytopenia	8567	MADD	OMIM:619005
HP:0001873	Thrombocytopenia	29123	ANKRD11	ORPHA:261250
HP:0001873	Thrombocytopenia	6786	STIM1	OMIM:185070
HP:0001873	Thrombocytopenia	7066	THPO	OMIM:620478
HP:0001873	Thrombocytopenia	7066	THPO	OMIM:620481
HP:0001873	Thrombocytopenia	7066	THPO	ORPHA:3319
HP:0001873	Thrombocytopenia	6948	TCN2	ORPHA:859
HP:0001873	Thrombocytopenia	60	ACTB	OMIM:620475
HP:0001873	Thrombocytopenia	3516	RBPJ	ORPHA:974
HP:0001873	Thrombocytopenia	4851	NOTCH1	ORPHA:974
HP:0001873	Thrombocytopenia	57514	ARHGAP31	ORPHA:974
HP:0001873	Thrombocytopenia	57572	DOCK6	ORPHA:974
HP:0001873	Thrombocytopenia	285203	EOGT	ORPHA:974
HP:0001873	Thrombocytopenia	54567	DLL4	ORPHA:974
HP:0001873	Thrombocytopenia	199221	DZIP1L	ORPHA:731
HP:0001873	Thrombocytopenia	5314	PKHD1	ORPHA:731
HP:0001873	Thrombocytopenia	64376	IKZF5	OMIM:619130
HP:0001873	Thrombocytopenia	2177	FANCD2	OMIM:227646
HP:0001873	Thrombocytopenia	2177	FANCD2	ORPHA:84
HP:0001873	Thrombocytopenia	2176	FANCC	OMIM:227645
HP:0001873	Thrombocytopenia	2176	FANCC	ORPHA:84
HP:0001873	Thrombocytopenia	7390	UROS	OMIM:263700
HP:0001873	Thrombocytopenia	7390	UROS	ORPHA:79277
HP:0001873	Thrombocytopenia	51371	POMP	OMIM:618048
HP:0001873	Thrombocytopenia	5557	PRIM1	OMIM:620005
HP:0001873	Thrombocytopenia	2624	GATA2	ORPHA:228423
HP:0001873	Thrombocytopenia	4683	NBN	ORPHA:647
HP:0001873	Thrombocytopenia	4683	NBN	OMIM:251260
HP:0001873	Thrombocytopenia	25913	POT1	OMIM:620367
HP:0001873	Thrombocytopenia	7171	TPM4	OMIM:620486
HP:0001873	Thrombocytopenia	92345	NAF1	OMIM:620365
HP:0001873	Thrombocytopenia	1719	DHFR	OMIM:613839
HP:0001873	Thrombocytopenia	84153	RNASEH2C	OMIM:610329
HP:0001873	Thrombocytopenia	5795	PTPRJ	OMIM:620484
HP:0001873	Thrombocytopenia	5965	RECQL	OMIM:620370
HP:0001873	Thrombocytopenia	613	BCR	ORPHA:521
HP:0001873	Thrombocytopenia	25	ABL1	ORPHA:521
HP:0001873	Thrombocytopenia	6774	STAT3	ORPHA:520
HP:0001873	Thrombocytopenia	5371	PML	ORPHA:520
HP:0001873	Thrombocytopenia	5914	RARA	ORPHA:520
HP:0001873	Thrombocytopenia	359948	IRF2BP2	ORPHA:520
HP:0001873	Thrombocytopenia	81608	FIP1L1	ORPHA:520
HP:0001873	Thrombocytopenia	4869	NPM1	ORPHA:520
HP:0001873	Thrombocytopenia	4869	NPM1	ORPHA:1775
HP:0001873	Thrombocytopenia	5573	PRKAR1A	ORPHA:520
HP:0001873	Thrombocytopenia	54880	BCOR	ORPHA:520
HP:0001873	Thrombocytopenia	64859	NABP1	ORPHA:520
HP:0001873	Thrombocytopenia	6777	STAT5B	ORPHA:520
HP:0001873	Thrombocytopenia	4926	NUMA1	ORPHA:520
HP:0001873	Thrombocytopenia	7704	ZBTB16	ORPHA:520
HP:0001873	Thrombocytopenia	79718	TBL1XR1	ORPHA:520
HP:0001873	Thrombocytopenia	10535	RNASEH2A	OMIM:610333
HP:0001873	Thrombocytopenia	5696	PSMB8	OMIM:256040
HP:0001873	Thrombocytopenia	54938	SARS2	OMIM:613845
HP:0001873	Thrombocytopenia	4067	LYN	OMIM:620376
HP:0001873	Thrombocytopenia	4613	MYCN	ORPHA:635
HP:0001873	Thrombocytopenia	238	ALK	ORPHA:635
HP:0001873	Thrombocytopenia	389421	LIN28B	ORPHA:635
HP:0001873	Thrombocytopenia	4004	LMO1	ORPHA:635
HP:0001873	Thrombocytopenia	57531	HACE1	ORPHA:635
HP:0001873	Thrombocytopenia	8929	PHOX2B	ORPHA:635
HP:0001873	Thrombocytopenia	3690	ITGB3	OMIM:619271
HP:0001873	Thrombocytopenia	128	ADH5	OMIM:619151
HP:0001873	Thrombocytopenia	171023	ASXL1	ORPHA:98850
HP:0001873	Thrombocytopenia	171023	ASXL1	ORPHA:98849
HP:0001873	Thrombocytopenia	867	CBL	ORPHA:98850
HP:0001873	Thrombocytopenia	6427	SRSF2	ORPHA:98850
HP:0001873	Thrombocytopenia	6427	SRSF2	ORPHA:98849
HP:0001873	Thrombocytopenia	2811	GP1BA	OMIM:153670
HP:0001873	Thrombocytopenia	2811	GP1BA	OMIM:231200
HP:0001873	Thrombocytopenia	6309	SC5D	ORPHA:46059
HP:0001873	Thrombocytopenia	10312	TCIRG1	OMIM:259700
HP:0001873	Thrombocytopenia	10312	TCIRG1	ORPHA:210110
HP:0001873	Thrombocytopenia	3815	KIT	ORPHA:98849
HP:0001873	Thrombocytopenia	987	LRBA	OMIM:614700
HP:0001873	Thrombocytopenia	811	CALR	ORPHA:824
HP:0001873	Thrombocytopenia	4352	MPL	ORPHA:824
HP:0001873	Thrombocytopenia	4352	MPL	ORPHA:3319
HP:0001873	Thrombocytopenia	4352	MPL	OMIM:604498
HP:0001873	Thrombocytopenia	10667	FARS2	OMIM:614946
HP:0001873	Thrombocytopenia	843	CASP10	OMIM:603909
HP:0001873	Thrombocytopenia	55788	LMBRD1	OMIM:277380
HP:0001873	Thrombocytopenia	3141	HLCS	OMIM:253270
HP:0001873	Thrombocytopenia	3141	HLCS	ORPHA:79242
HP:0001873	Thrombocytopenia	7015	TERT	OMIM:613989
HP:0001873	Thrombocytopenia	7015	TERT	ORPHA:88
HP:0001873	Thrombocytopenia	7015	TERT	ORPHA:3322
HP:0001873	Thrombocytopenia	7015	TERT	OMIM:127550
HP:0001873	Thrombocytopenia	7015	TERT	ORPHA:1775
HP:0001873	Thrombocytopenia	9382	COG1	OMIM:611209
HP:0001873	Thrombocytopenia	79631	EFL1	ORPHA:811
HP:0001873	Thrombocytopenia	79631	EFL1	OMIM:617941
HP:0001873	Thrombocytopenia	2533	FYB1	OMIM:273900
HP:0001873	Thrombocytopenia	25839	COG4	ORPHA:263501
HP:0001873	Thrombocytopenia	3735	KARS1	ORPHA:3240
HP:0001873	Thrombocytopenia	3458	IFNG	ORPHA:88
HP:0001873	Thrombocytopenia	7012	TERC	ORPHA:88
HP:0001873	Thrombocytopenia	7012	TERC	OMIM:127550
HP:0001873	Thrombocytopenia	7012	TERC	ORPHA:1775
HP:0001873	Thrombocytopenia	9630	GNA14	ORPHA:1063
HP:0001873	Thrombocytopenia	26277	TINF2	OMIM:613990
HP:0001873	Thrombocytopenia	26277	TINF2	ORPHA:3322
HP:0001873	Thrombocytopenia	26277	TINF2	OMIM:127550
HP:0001873	Thrombocytopenia	26277	TINF2	ORPHA:1775
HP:0001873	Thrombocytopenia	348	APOE	OMIM:269600
HP:0001873	Thrombocytopenia	348	APOE	ORPHA:158029
HP:0001873	Thrombocytopenia	3988	LIPA	OMIM:278000
HP:0001873	Thrombocytopenia	92579	G6PC3	OMIM:612541
HP:0001873	Thrombocytopenia	55858	TMEM165	OMIM:614727
HP:0001873	Thrombocytopenia	9103	FCGR2C	ORPHA:3002
HP:0001873	Thrombocytopenia	672	BRCA1	ORPHA:84
HP:0001873	Thrombocytopenia	7516	XRCC2	ORPHA:84
HP:0001873	Thrombocytopenia	29089	UBE2T	ORPHA:84
HP:0001873	Thrombocytopenia	29089	UBE2T	OMIM:616435
HP:0001873	Thrombocytopenia	675	BRCA2	ORPHA:84
HP:0001873	Thrombocytopenia	55120	FANCL	ORPHA:84
HP:0001873	Thrombocytopenia	2178	FANCE	ORPHA:84
HP:0001873	Thrombocytopenia	2178	FANCE	OMIM:600901
HP:0001873	Thrombocytopenia	5888	RAD51	ORPHA:84
HP:0001873	Thrombocytopenia	5889	RAD51C	ORPHA:84
HP:0001873	Thrombocytopenia	55159	RFWD3	ORPHA:84
HP:0001873	Thrombocytopenia	83990	BRIP1	ORPHA:84
HP:0001873	Thrombocytopenia	57697	FANCM	ORPHA:84
HP:0001873	Thrombocytopenia	79728	PALB2	ORPHA:84
HP:0001873	Thrombocytopenia	84464	SLX4	ORPHA:84
HP:0001873	Thrombocytopenia	2072	ERCC4	ORPHA:84
HP:0001873	Thrombocytopenia	8546	AP3B1	OMIM:608233
HP:0001873	Thrombocytopenia	5095	PCCA	OMIM:606054
HP:0001873	Thrombocytopenia	5096	PCCB	OMIM:606054
HP:0001873	Thrombocytopenia	7466	WFS1	OMIM:222300
HP:0001873	Thrombocytopenia	5328	PLAU	OMIM:601709
HP:0001873	Thrombocytopenia	10352	WARS2	ORPHA:572798
HP:0001873	Thrombocytopenia	10352	WARS2	OMIM:617710
HP:0001873	Thrombocytopenia	342618	SLFN14	OMIM:616913
HP:0001873	Thrombocytopenia	4598	MVK	OMIM:610377
HP:0001873	Thrombocytopenia	113235	SLC46A1	OMIM:229050
HP:0001873	Thrombocytopenia	113235	SLC46A1	ORPHA:90045
HP:0001873	Thrombocytopenia	28976	ACAD9	ORPHA:99901
HP:0001873	Thrombocytopenia	28976	ACAD9	OMIM:611126
HP:0001873	Thrombocytopenia	5826	ABCD4	OMIM:614857
HP:0001873	Thrombocytopenia	2321	FLT1	ORPHA:275555
HP:0001873	Thrombocytopenia	219736	STOX1	ORPHA:275555
HP:0001873	Thrombocytopenia	10699	CORIN	ORPHA:275555
HP:0001873	Thrombocytopenia	7454	WAS	ORPHA:906
HP:0001873	Thrombocytopenia	7454	WAS	OMIM:301000
HP:0001873	Thrombocytopenia	7456	WIPF1	ORPHA:906
HP:0001873	Thrombocytopenia	7456	WIPF1	OMIM:614493
HP:0001873	Thrombocytopenia	375748	ERCC6L2	OMIM:615715
HP:0001873	Thrombocytopenia	157570	ESCO2	ORPHA:3103
HP:0001873	Thrombocytopenia	55719	SLF2	OMIM:620184
HP:0001873	Thrombocytopenia	23137	SMC5	OMIM:620185
HP:0001873	Thrombocytopenia	26227	PHGDH	OMIM:601815
HP:0001873	Thrombocytopenia	64135	IFIH1	OMIM:615846
HP:0001873	Thrombocytopenia	6714	SRC	OMIM:616937
HP:0001873	Thrombocytopenia	695	BTK	ORPHA:47
HP:0001873	Thrombocytopenia	4846	NOS3	OMIM:189800
HP:0001873	Thrombocytopenia	1186	CLCN7	OMIM:611490
HP:0001873	Thrombocytopenia	1186	CLCN7	ORPHA:53
HP:0001873	Thrombocytopenia	1186	CLCN7	ORPHA:210110
HP:0001873	Thrombocytopenia	7450	VWF	OMIM:613554
HP:0001873	Thrombocytopenia	7450	VWF	OMIM:277480
HP:0001873	Thrombocytopenia	9939	RBM8A	ORPHA:3320
HP:0001873	Thrombocytopenia	9939	RBM8A	OMIM:274000
HP:0001873	Thrombocytopenia	51750	RTEL1	ORPHA:3322
HP:0001873	Thrombocytopenia	51750	RTEL1	ORPHA:1775
HP:0001873	Thrombocytopenia	65057	ACD	ORPHA:3322
HP:0001873	Thrombocytopenia	5073	PARN	ORPHA:3322
HP:0001873	Thrombocytopenia	5073	PARN	ORPHA:1775
HP:0001873	Thrombocytopenia	64241	ABCG8	OMIM:210250
HP:0001873	Thrombocytopenia	28962	OSTM1	OMIM:259720
HP:0001873	Thrombocytopenia	51095	TRNT1	OMIM:616959
HP:0001873	Thrombocytopenia	10878	CFHR3	OMIM:235400
HP:0001873	Thrombocytopenia	3075	CFH	OMIM:235400
HP:0001873	Thrombocytopenia	3075	CFH	ORPHA:244242
HP:0001873	Thrombocytopenia	3078	CFHR1	OMIM:235400
HP:0001873	Thrombocytopenia	8600	TNFSF11	OMIM:259710
HP:0001873	Thrombocytopenia	2982	GUCY1A1	OMIM:615750
HP:0001873	Thrombocytopenia	2982	GUCY1A1	ORPHA:401945
HP:0001873	Thrombocytopenia	54205	CYCS	OMIM:612004
HP:0001873	Thrombocytopenia	3932	LCK	OMIM:615758
HP:0001873	Thrombocytopenia	6303	SAT1	ORPHA:93552
HP:0001873	Thrombocytopenia	6261	RYR1	ORPHA:466650
HP:0001873	Thrombocytopenia	50943	FOXP3	OMIM:304790
HP:0001873	Thrombocytopenia	55593	OTUD5	OMIM:301056
HP:0001873	Thrombocytopenia	7317	UBA1	OMIM:301054
HP:0001873	Thrombocytopenia	948	CD36	OMIM:608404
HP:0001873	Thrombocytopenia	998	CDC42	OMIM:616737
HP:0001873	Thrombocytopenia	998	CDC42	ORPHA:487796
HP:0001873	Thrombocytopenia	10560	SLC19A2	ORPHA:49827
HP:0001873	Thrombocytopenia	10560	SLC19A2	OMIM:249270
HP:0001873	Thrombocytopenia	11093	ADAMTS13	OMIM:274150
HP:0001873	Thrombocytopenia	1287	COL4A5	OMIM:301050
HP:0001873	Thrombocytopenia	2122	MECOM	OMIM:616738
HP:0001873	Thrombocytopenia	1991	ELANE	ORPHA:2686
HP:0001873	Thrombocytopenia	79840	NHEJ1	ORPHA:169079
HP:0001873	Thrombocytopenia	3106	HLA-B	ORPHA:36426
HP:0001873	Thrombocytopenia	10320	IKZF1	ORPHA:36426
HP:0001873	Thrombocytopenia	6609	SMPD1	ORPHA:77293
HP:0001873	Thrombocytopenia	6609	SMPD1	OMIM:607616
HP:0001873	Thrombocytopenia	10095	ARPC1B	OMIM:617718
HP:0001873	Thrombocytopenia	3431	SP110	ORPHA:79124
HP:0001873	Thrombocytopenia	3712	IVD	OMIM:243500
HP:0001873	Thrombocytopenia	8985	PLOD3	OMIM:612394
HP:0001873	Thrombocytopenia	57511	COG6	OMIM:614576
HP:0001873	Thrombocytopenia	2475	MTOR	OMIM:616638
HP:0001873	Thrombocytopenia	326625	MMAB	OMIM:251110
HP:0001873	Thrombocytopenia	760	CA2	ORPHA:2785
HP:0001873	Thrombocytopenia	3674	ITGA2B	OMIM:187800
HP:0001873	Thrombocytopenia	9842	PLEKHM1	ORPHA:210110
HP:0001873	Thrombocytopenia	3702	ITK	OMIM:613011
HP:0001873	Thrombocytopenia	2065	ERBB3	OMIM:133180
HP:0001873	Thrombocytopenia	2316	FLNA	OMIM:300048
HP:0001873	Thrombocytopenia	101101692	HELLPAR	ORPHA:244242
HP:0001873	Thrombocytopenia	100506658	OCLN	OMIM:251290
HP:0001873	Thrombocytopenia	5294	PIK3CG	OMIM:619802
HP:0001873	Thrombocytopenia	25974	MMACHC	ORPHA:79282
HP:0001873	Thrombocytopenia	25974	MMACHC	OMIM:277400
HP:0001873	Thrombocytopenia	29071	C1GALT1C1	OMIM:301110
HP:0001873	Thrombocytopenia	2815	GP9	OMIM:231200
HP:0001873	Thrombocytopenia	80169	CTC1	OMIM:612199
HP:0001873	Thrombocytopenia	80169	CTC1	ORPHA:1775
HP:0001873	Thrombocytopenia	79650	USB1	ORPHA:1775
HP:0001873	Thrombocytopenia	55135	WRAP53	ORPHA:1775
HP:0001873	Thrombocytopenia	7298	TYMS	ORPHA:1775
HP:0001873	Thrombocytopenia	2212	FCGR2A	OMIM:152700
HP:0001873	Thrombocytopenia	1794	DOCK2	OMIM:616433
HP:0001873	Thrombocytopenia	5052	PRDX1	OMIM:277400
HP:0001873	Thrombocytopenia	8328	GFI1B	OMIM:187900
HP:0001873	Thrombocytopenia	6773	STAT2	OMIM:618886
HP:0001873	Thrombocytopenia	3207	HOXA11	OMIM:605432
HP:0001873	Thrombocytopenia	355	FAS	ORPHA:3261
HP:0001873	Thrombocytopenia	355	FAS	OMIM:601859
HP:0001873	Thrombocytopenia	356	FASLG	ORPHA:3261
HP:0001873	Thrombocytopenia	356	FASLG	OMIM:601859
HP:0001873	Thrombocytopenia	4791	NFKB2	ORPHA:293978
HP:0001873	Thrombocytopenia	4791	NFKB2	ORPHA:1572
HP:0001873	Thrombocytopenia	975	CD81	OMIM:613496
HP:0001873	Thrombocytopenia	975	CD81	ORPHA:1572
HP:0001873	Thrombocytopenia	4860	PNP	OMIM:613179
HP:0001873	Thrombocytopenia	4860	PNP	ORPHA:760
HP:0001873	Thrombocytopenia	5580	PRKCD	OMIM:615559
HP:0001873	Thrombocytopenia	54440	SASH3	OMIM:301082
HP:0001873	Thrombocytopenia	7174	TPP2	ORPHA:444463
HP:0001873	Thrombocytopenia	7174	TPP2	OMIM:619220
HP:0001873	Thrombocytopenia	3575	IL7R	ORPHA:169154
HP:0001873	Thrombocytopenia	3845	KRAS	OMIM:614470
HP:0001873	Thrombocytopenia	56259	CTNNBL1	OMIM:619846
HP:0001873	Thrombocytopenia	5994	RFXAP	ORPHA:572
HP:0001873	Thrombocytopenia	4261	CIITA	ORPHA:572
HP:0001873	Thrombocytopenia	5993	RFX5	ORPHA:572
HP:0001873	Thrombocytopenia	8625	RFXANK	ORPHA:572
HP:0001873	Thrombocytopenia	54	ACP5	OMIM:607944
HP:0001873	Thrombocytopenia	54	ACP5	ORPHA:1855
HP:0001873	Thrombocytopenia	139818	DOCK11	OMIM:301109
HP:0001873	Thrombocytopenia	84061	MAGT1	OMIM:300853
HP:0001873	Thrombocytopenia	8651	SOCS1	OMIM:619375
HP:0001873	Thrombocytopenia	27040	LAT	OMIM:617514
HP:0001873	Thrombocytopenia	100	ADA	OMIM:102700
HP:0001873	Thrombocytopenia	10092	ARPC5	OMIM:620565
HP:0001873	Thrombocytopenia	2581	GALC	OMIM:245200
HP:0001873	Thrombocytopenia	10125	RASGRP1	OMIM:618534
HP:0001873	Thrombocytopenia	23495	TNFRSF13B	ORPHA:1572
HP:0001873	Thrombocytopenia	115650	TNFRSF13C	ORPHA:1572
HP:0001873	Thrombocytopenia	8742	TNFSF12	ORPHA:1572
HP:0001873	Thrombocytopenia	930	CD19	ORPHA:1572
HP:0001873	Thrombocytopenia	29851	ICOS	ORPHA:1572
HP:0001873	Thrombocytopenia	931	MS4A1	ORPHA:1572
HP:0001873	Thrombocytopenia	9138	ARHGEF1	OMIM:618459
HP:0001873	Thrombocytopenia	7535	ZAP70	ORPHA:911
HP:0001873	Thrombocytopenia	8085	KMT2D	OMIM:147920
HP:0001873	Thrombocytopenia	7403	KDM6A	OMIM:147920
HP:0001873	Thrombocytopenia	79621	RNASEH2B	ORPHA:51
HP:0001873	Thrombocytopenia	100147744	RNU7-1	ORPHA:51
HP:0001873	Thrombocytopenia	134353	LSM11	ORPHA:51
HP:0001873	Thrombocytopenia	3673	ITGA2	ORPHA:853
HP:0001873	Thrombocytopenia	135228	CD109	ORPHA:853
HP:0001873	Thrombocytopenia	9948	WDR1	OMIM:150550
HP:0001873	Thrombocytopenia	7037	TFRC	OMIM:616740
HP:0001873	Thrombocytopenia	5781	PTPN11	OMIM:163950
HP:0001873	Thrombocytopenia	51807	TUBA8	OMIM:619840
HP:0001873	Thrombocytopenia	81027	TUBB1	OMIM:613112
HP:0001873	Thrombocytopenia	64240	ABCG5	ORPHA:2882
HP:0004836	Acute promyelocytic leukemia	5914	RARA	OMIM:612376
HP:0004836	Acute promyelocytic leukemia	6609	SMPD1	ORPHA:77293
HP:0004835	Microspherocytosis	6708	SPTA1	OMIM:266140
HP:0001892	Abnormal bleeding	5618	PRLR	OMIM:615555
HP:0001892	Abnormal bleeding	5618	PRLR	ORPHA:397685
HP:0001892	Abnormal bleeding	11234	HPS5	OMIM:614074
HP:0001892	Abnormal bleeding	388552	BLOC1S3	OMIM:614077
HP:0001892	Abnormal bleeding	90411	MCFD2	ORPHA:35909
HP:0001892	Abnormal bleeding	90411	MCFD2	OMIM:613625
HP:0001892	Abnormal bleeding	84062	DTNBP1	OMIM:614076
HP:0001892	Abnormal bleeding	81575	APOLD1	OMIM:620715
HP:0001892	Abnormal bleeding	10020	GNE	OMIM:620757
HP:0001892	Abnormal bleeding	10235	RASGRP2	OMIM:615888
HP:0001892	Abnormal bleeding	63915	BLOC1S5	OMIM:619172
HP:0001892	Abnormal bleeding	2159	F10	OMIM:227600
HP:0001892	Abnormal bleeding	2159	F10	ORPHA:328
HP:0001892	Abnormal bleeding	51206	GP6	OMIM:614201
HP:0001892	Abnormal bleeding	7171	TPM4	OMIM:620486
HP:0001892	Abnormal bleeding	5328	PLAU	OMIM:601709
HP:0001892	Abnormal bleeding	342618	SLFN14	OMIM:616913
HP:0001892	Abnormal bleeding	1729	DIAPH1	OMIM:124900
HP:0001892	Abnormal bleeding	7454	WAS	OMIM:301000
HP:0001892	Abnormal bleeding	7454	WAS	ORPHA:906
HP:0001892	Abnormal bleeding	716	C1S	OMIM:617174
HP:0001892	Abnormal bleeding	10068	IL18BP	OMIM:618549
HP:0001892	Abnormal bleeding	3257	HPS1	OMIM:203300
HP:0001892	Abnormal bleeding	7456	WIPF1	ORPHA:906
HP:0001892	Abnormal bleeding	715	C1R	OMIM:130080
HP:0001892	Abnormal bleeding	5335	PLCG1	OMIM:620514
HP:0001892	Abnormal bleeding	9493	KIF23	ORPHA:98870
HP:0001892	Abnormal bleeding	29127	RACGAP1	ORPHA:98870
HP:0001892	Abnormal bleeding	3458	IFNG	ORPHA:88
HP:0001892	Abnormal bleeding	5551	PRF1	ORPHA:88
HP:0001892	Abnormal bleeding	7012	TERC	ORPHA:88
HP:0001892	Abnormal bleeding	51119	SBDS	ORPHA:88
HP:0001892	Abnormal bleeding	7015	TERT	ORPHA:88
HP:0001892	Abnormal bleeding	847	CAT	ORPHA:926
HP:0001892	Abnormal bleeding	63916	ELMO2	OMIM:606893
HP:0001892	Abnormal bleeding	9103	FCGR2C	ORPHA:3002
HP:0001892	Abnormal bleeding	4615	MYD88	ORPHA:33226
HP:0001892	Abnormal bleeding	9509	ADAMTS2	OMIM:225410
HP:0001892	Abnormal bleeding	26191	PTPN22	ORPHA:397
HP:0001892	Abnormal bleeding	26191	PTPN22	ORPHA:900
HP:0001892	Abnormal bleeding	3106	HLA-B	ORPHA:397
HP:0001892	Abnormal bleeding	3123	HLA-DRB1	ORPHA:397
HP:0001892	Abnormal bleeding	8974	P4HA2	ORPHA:397
HP:0001892	Abnormal bleeding	87	ACTN1	OMIM:615193
HP:0001892	Abnormal bleeding	2158	F9	OMIM:306900
HP:0001892	Abnormal bleeding	9578	CDC42BPB	OMIM:619841
HP:0001892	Abnormal bleeding	3162	HMOX1	OMIM:614034
HP:0001892	Abnormal bleeding	2120	ETV6	OMIM:616216
HP:0001892	Abnormal bleeding	4010	LMX1B	ORPHA:495818
HP:0001892	Abnormal bleeding	6812	STXBP1	ORPHA:495818
HP:0001892	Abnormal bleeding	861	RUNX1	OMIM:601399
HP:0001892	Abnormal bleeding	776	CACNA1D	ORPHA:369929
HP:0001892	Abnormal bleeding	55340	GIMAP5	OMIM:619463
HP:0001892	Abnormal bleeding	1053	CEBPE	OMIM:260570
HP:0001892	Abnormal bleeding	5205	ATP8B1	OMIM:211600
HP:0001892	Abnormal bleeding	1493	CTLA4	ORPHA:900
HP:0001892	Abnormal bleeding	3115	HLA-DPB1	ORPHA:900
HP:0001892	Abnormal bleeding	5657	PRTN3	ORPHA:900
HP:0001892	Abnormal bleeding	3113	HLA-DPA1	ORPHA:900
HP:0001892	Abnormal bleeding	79803	HPS6	OMIM:614075
HP:0001892	Abnormal bleeding	2658	GDF2	ORPHA:774
HP:0001892	Abnormal bleeding	94	ACVRL1	ORPHA:774
HP:0001892	Abnormal bleeding	6915	TBXA2R	OMIM:614009
HP:0001892	Abnormal bleeding	1181	CLCN2	ORPHA:404
HP:0001892	Abnormal bleeding	1584	CYP11B1	ORPHA:403
HP:0001892	Abnormal bleeding	1585	CYP11B2	ORPHA:403
HP:0001892	Abnormal bleeding	3762	KCNJ5	ORPHA:251274
HP:0001892	Abnormal bleeding	3913	LAMB2	OMIM:609049
HP:0001892	Abnormal bleeding	667	DST	OMIM:614653
HP:0001892	Abnormal bleeding	23474	ETHE1	OMIM:602473
HP:0001892	Abnormal bleeding	23474	ETHE1	ORPHA:51188
HP:0001892	Abnormal bleeding	5184	PEPD	OMIM:170100
HP:0001892	Abnormal bleeding	100506658	OCLN	OMIM:251290
HP:0001892	Abnormal bleeding	3937	LCP2	OMIM:619374
HP:0001892	Abnormal bleeding	4668	NAGA	OMIM:609242
HP:0001892	Abnormal bleeding	4069	LYZ	OMIM:620658
HP:0001892	Abnormal bleeding	64858	DCLRE1B	OMIM:620133
HP:0001892	Abnormal bleeding	91039	DPP9	OMIM:620331
HP:0001892	Abnormal bleeding	5873	RAB27A	ORPHA:79477
HP:0001892	Abnormal bleeding	4758	NEU1	ORPHA:93400
HP:0001892	Abnormal bleeding	7148	TNXB	ORPHA:230839
HP:0001892	Abnormal bleeding	7148	TNXB	OMIM:606408
HP:0001892	Abnormal bleeding	2778	GNAS	OMIM:219080
HP:0001892	Abnormal bleeding	2778	GNAS	ORPHA:189427
HP:0001892	Abnormal bleeding	538	ATP7A	OMIM:304150
HP:0001892	Abnormal bleeding	538	ATP7A	ORPHA:198
HP:0001892	Abnormal bleeding	2202	EFEMP1	OMIM:620780
HP:0001892	Abnormal bleeding	10312	TCIRG1	ORPHA:667
HP:0001892	Abnormal bleeding	1186	CLCN7	ORPHA:667
HP:0001892	Abnormal bleeding	29887	SNX10	ORPHA:667
HP:0001892	Abnormal bleeding	8600	TNFSF11	ORPHA:667
HP:0001892	Abnormal bleeding	8676	STX11	ORPHA:540
HP:0001892	Abnormal bleeding	201294	UNC13D	ORPHA:540
HP:0001892	Abnormal bleeding	6813	STXBP2	ORPHA:540
HP:0001892	Abnormal bleeding	1278	COL1A2	ORPHA:230851
HP:0001892	Abnormal bleeding	1278	COL1A2	OMIM:617821
HP:0001892	Abnormal bleeding	1278	COL1A2	OMIM:225320
HP:0001892	Abnormal bleeding	1278	COL1A2	OMIM:619120
HP:0001892	Abnormal bleeding	2175	FANCA	OMIM:227650
HP:0001892	Abnormal bleeding	50940	PDE11A	OMIM:610475
HP:0001892	Abnormal bleeding	50940	PDE11A	ORPHA:1359
HP:0001892	Abnormal bleeding	55033	FKBP14	OMIM:614557
HP:0001892	Abnormal bleeding	55033	FKBP14	ORPHA:300179
HP:0001892	Abnormal bleeding	7132	TNFRSF1A	ORPHA:32960
HP:0001892	Abnormal bleeding	84196	USP48	ORPHA:96253
HP:0001892	Abnormal bleeding	9101	USP8	ORPHA:96253
HP:0001892	Abnormal bleeding	9101	USP8	OMIM:219090
HP:0001892	Abnormal bleeding	64072	CDH23	ORPHA:96253
HP:0001892	Abnormal bleeding	2908	NR3C1	ORPHA:96253
HP:0001892	Abnormal bleeding	3039	HBA1	ORPHA:98791
HP:0001892	Abnormal bleeding	3040	HBA2	ORPHA:98791
HP:0001892	Abnormal bleeding	165	AEBP1	OMIM:618000
HP:0001892	Abnormal bleeding	165	AEBP1	ORPHA:536532
HP:0001892	Abnormal bleeding	5831	PYCR1	OMIM:612940
HP:0001892	Abnormal bleeding	4784	NFIX	ORPHA:561
HP:0001892	Abnormal bleeding	22852	ANKRD26	OMIM:188000
HP:0001892	Abnormal bleeding	2178	FANCE	OMIM:600901
HP:0001892	Abnormal bleeding	11107	PRDM5	OMIM:614170
HP:0001892	Abnormal bleeding	11107	PRDM5	ORPHA:90354
HP:0001892	Abnormal bleeding	633	BGN	OMIM:300989
HP:0001892	Abnormal bleeding	4507	MTAP	OMIM:112250
HP:0001892	Abnormal bleeding	8985	PLOD3	OMIM:612394
HP:0001892	Abnormal bleeding	9049	AIP	OMIM:219090
HP:0001892	Abnormal bleeding	2200	FBN1	OMIM:616914
HP:0001892	Abnormal bleeding	2200	FBN1	ORPHA:91387
HP:0001892	Abnormal bleeding	5566	PRKACA	OMIM:615830
HP:0001892	Abnormal bleeding	2517	FUCA1	OMIM:230000
HP:0001892	Abnormal bleeding	540	ATP7B	ORPHA:905
HP:0001892	Abnormal bleeding	2934	GSN	ORPHA:85448
HP:0001892	Abnormal bleeding	5594	MAPK1	OMIM:619087
HP:0001892	Abnormal bleeding	79798	ARMC5	ORPHA:189427
HP:0001892	Abnormal bleeding	23028	KDM1A	ORPHA:189427
HP:0001892	Abnormal bleeding	84627	ZNF469	ORPHA:90354
HP:0001892	Abnormal bleeding	23387	SIK3	OMIM:618162
HP:0001892	Abnormal bleeding	126792	B3GALT6	ORPHA:536467
HP:0001892	Abnormal bleeding	11117	EMILIN1	OMIM:620080
HP:0001892	Abnormal bleeding	2177	FANCD2	OMIM:227646
HP:0001892	Abnormal bleeding	2176	FANCC	OMIM:227645
HP:0001892	Abnormal bleeding	81031	SLC2A10	OMIM:208050
HP:0001892	Abnormal bleeding	4914	NTRK1	ORPHA:642
HP:0001892	Abnormal bleeding	91252	SLC39A13	ORPHA:157965
HP:0001892	Abnormal bleeding	91252	SLC39A13	OMIM:612350
HP:0001892	Abnormal bleeding	335	APOA1	OMIM:620657
HP:0001892	Abnormal bleeding	5167	ENPP1	ORPHA:758
HP:0001892	Abnormal bleeding	368	ABCC6	ORPHA:758
HP:0001892	Abnormal bleeding	4629	MYH11	ORPHA:91387
HP:0001892	Abnormal bleeding	4015	LOX	ORPHA:91387
HP:0001892	Abnormal bleeding	59	ACTA2	ORPHA:91387
HP:0001892	Abnormal bleeding	5592	PRKG1	ORPHA:91387
HP:0001892	Abnormal bleeding	2301	FOXE3	ORPHA:91387
HP:0001892	Abnormal bleeding	4144	MAT2A	ORPHA:91387
HP:0001892	Abnormal bleeding	23493	HEY2	ORPHA:91387
HP:0001892	Abnormal bleeding	8076	MFAP5	ORPHA:91387
HP:0001892	Abnormal bleeding	4638	MYLK	ORPHA:91387
HP:0001892	Abnormal bleeding	79875	THSD4	ORPHA:91387
HP:0001892	Abnormal bleeding	2006	ELN	ORPHA:91387
HP:0001892	Abnormal bleeding	720	C4A	OMIM:614380
HP:0001892	Abnormal bleeding	975	CD81	OMIM:613496
HP:0001892	Abnormal bleeding	975	CD81	ORPHA:1572
HP:0001892	Abnormal bleeding	7036	TFR2	OMIM:604250
HP:0001892	Abnormal bleeding	5624	PROC	ORPHA:745
HP:0001892	Abnormal bleeding	5624	PROC	OMIM:612304
HP:0001892	Abnormal bleeding	4598	MVK	ORPHA:343
HP:0001892	Abnormal bleeding	11277	TREX1	OMIM:225750
HP:0001892	Abnormal bleeding	51816	ADA2	OMIM:615688
HP:0001892	Abnormal bleeding	54	ACP5	OMIM:607944
HP:0001892	Abnormal bleeding	9630	GNA14	ORPHA:1063
HP:0001892	Abnormal bleeding	1312	COMT	ORPHA:567
HP:0001892	Abnormal bleeding	221037	JMJD1C	ORPHA:567
HP:0001892	Abnormal bleeding	6239	RREB1	ORPHA:567
HP:0001892	Abnormal bleeding	6899	TBX1	ORPHA:567
HP:0001892	Abnormal bleeding	7290	HIRA	ORPHA:567
HP:0001892	Abnormal bleeding	9632	SEC24C	ORPHA:567
HP:0001892	Abnormal bleeding	7353	UFD1	ORPHA:567
HP:0001892	Abnormal bleeding	421	ARVCF	ORPHA:567
HP:0001892	Abnormal bleeding	84876	ORAI1	ORPHA:3204
HP:0001892	Abnormal bleeding	717	C2	OMIM:217000
HP:0001892	Abnormal bleeding	114548	NLRP3	ORPHA:1451
HP:0001892	Abnormal bleeding	23495	TNFRSF13B	ORPHA:1572
HP:0001892	Abnormal bleeding	4790	NFKB1	ORPHA:1572
HP:0001892	Abnormal bleeding	4791	NFKB2	ORPHA:1572
HP:0001892	Abnormal bleeding	115650	TNFRSF13C	ORPHA:1572
HP:0001892	Abnormal bleeding	1380	CR2	ORPHA:1572
HP:0001892	Abnormal bleeding	8742	TNFSF12	ORPHA:1572
HP:0001892	Abnormal bleeding	930	CD19	ORPHA:1572
HP:0001892	Abnormal bleeding	29851	ICOS	ORPHA:1572
HP:0001892	Abnormal bleeding	931	MS4A1	ORPHA:1572
HP:0001892	Abnormal bleeding	4067	LYN	OMIM:620376
HP:0001892	Abnormal bleeding	3207	HOXA11	OMIM:605432
HP:0001892	Abnormal bleeding	10878	CFHR3	OMIM:235400
HP:0001892	Abnormal bleeding	3078	CFHR1	OMIM:235400
HP:0001892	Abnormal bleeding	3055	HCK	OMIM:620296
HP:0001892	Abnormal bleeding	7428	VHL	OMIM:263400
HP:0001892	Abnormal bleeding	7428	VHL	OMIM:171300
HP:0001892	Abnormal bleeding	7428	VHL	ORPHA:29072
HP:0001892	Abnormal bleeding	7428	VHL	ORPHA:276621
HP:0001892	Abnormal bleeding	2132	EXT2	OMIM:616682
HP:0001892	Abnormal bleeding	55654	TMEM127	OMIM:171300
HP:0001892	Abnormal bleeding	55654	TMEM127	ORPHA:29072
HP:0001892	Abnormal bleeding	4149	MAX	OMIM:171300
HP:0001892	Abnormal bleeding	4149	MAX	ORPHA:29072
HP:0001892	Abnormal bleeding	5979	RET	OMIM:171300
HP:0001892	Abnormal bleeding	5979	RET	ORPHA:29072
HP:0001892	Abnormal bleeding	5979	RET	ORPHA:276621
HP:0001892	Abnormal bleeding	1743	DLST	ORPHA:29072
HP:0001892	Abnormal bleeding	4191	MDH2	ORPHA:29072
HP:0001892	Abnormal bleeding	23095	KIF1B	ORPHA:29072
HP:0001892	Abnormal bleeding	2271	FH	ORPHA:29072
HP:0001892	Abnormal bleeding	8402	SLC25A11	ORPHA:29072
HP:0001892	Abnormal bleeding	54949	SDHAF2	ORPHA:29072
HP:0001892	Abnormal bleeding	8314	BAP1	ORPHA:2495
HP:0001892	Abnormal bleeding	4771	NF2	ORPHA:2495
HP:0001892	Abnormal bleeding	6598	SMARCB1	ORPHA:2495
HP:0001892	Abnormal bleeding	84231	TRAF7	ORPHA:2495
HP:0001892	Abnormal bleeding	6608	SMO	ORPHA:2495
HP:0001892	Abnormal bleeding	207	AKT1	ORPHA:2495
HP:0001892	Abnormal bleeding	51684	SUFU	ORPHA:2495
HP:0001892	Abnormal bleeding	6605	SMARCE1	ORPHA:2495
HP:0001892	Abnormal bleeding	8517	IKBKG	OMIM:301081
HP:0001892	Abnormal bleeding	3032	HADHB	OMIM:620300
HP:0001892	Abnormal bleeding	1282	COL4A1	OMIM:175780
HP:0001892	Abnormal bleeding	2335	FN1	ORPHA:84090
HP:0001892	Abnormal bleeding	11235	PDCD10	OMIM:603285
HP:0001892	Abnormal bleeding	11235	PDCD10	ORPHA:221061
HP:0001892	Abnormal bleeding	83605	CCM2	OMIM:603284
HP:0001892	Abnormal bleeding	83605	CCM2	ORPHA:221061
HP:0001892	Abnormal bleeding	351	APP	ORPHA:324713
HP:0001892	Abnormal bleeding	351	APP	ORPHA:324703
HP:0001892	Abnormal bleeding	351	APP	ORPHA:324708
HP:0001892	Abnormal bleeding	351	APP	ORPHA:100006
HP:0001892	Abnormal bleeding	58	ACTA1	OMIM:620278
HP:0001892	Abnormal bleeding	442721	LMOD2	OMIM:619897
HP:0001892	Abnormal bleeding	11274	USP18	OMIM:617397
HP:0001892	Abnormal bleeding	727676	SNORD118	ORPHA:542310
HP:0001892	Abnormal bleeding	6773	STAT2	OMIM:618886
HP:0001892	Abnormal bleeding	79184	BRCC3	ORPHA:280679
HP:0001892	Abnormal bleeding	1788	DNMT3A	ORPHA:276621
HP:0001892	Abnormal bleeding	2034	EPAS1	ORPHA:276621
HP:0001892	Abnormal bleeding	7543	ZFX	OMIM:301118
HP:0001892	Abnormal bleeding	3690	ITGB3	OMIM:619271
HP:0001892	Abnormal bleeding	3690	ITGB3	ORPHA:853
HP:0001892	Abnormal bleeding	3690	ITGB3	OMIM:619267
HP:0001892	Abnormal bleeding	4352	MPL	ORPHA:71493
HP:0001892	Abnormal bleeding	4352	MPL	ORPHA:824
HP:0001892	Abnormal bleeding	4352	MPL	ORPHA:3318
HP:0001892	Abnormal bleeding	7066	THPO	ORPHA:71493
HP:0001892	Abnormal bleeding	7066	THPO	OMIM:620478
HP:0001892	Abnormal bleeding	3717	JAK2	ORPHA:71493
HP:0001892	Abnormal bleeding	3717	JAK2	ORPHA:824
HP:0001892	Abnormal bleeding	3717	JAK2	ORPHA:3318
HP:0001892	Abnormal bleeding	355	FAS	ORPHA:3261
HP:0001892	Abnormal bleeding	356	FASLG	ORPHA:3261
HP:0001892	Abnormal bleeding	843	CASP10	ORPHA:3261
HP:0001892	Abnormal bleeding	2157	F8	ORPHA:177926
HP:0001892	Abnormal bleeding	2157	F8	ORPHA:169805
HP:0001892	Abnormal bleeding	2811	GP1BA	ORPHA:274
HP:0001892	Abnormal bleeding	2811	GP1BA	ORPHA:853
HP:0001892	Abnormal bleeding	2811	GP1BA	OMIM:231200
HP:0001892	Abnormal bleeding	2812	GP1BB	ORPHA:274
HP:0001892	Abnormal bleeding	2812	GP1BB	ORPHA:853
HP:0001892	Abnormal bleeding	2812	GP1BB	OMIM:231200
HP:0001892	Abnormal bleeding	2815	GP9	ORPHA:274
HP:0001892	Abnormal bleeding	2815	GP9	OMIM:231200
HP:0001892	Abnormal bleeding	2266	FGG	OMIM:202400
HP:0001892	Abnormal bleeding	2266	FGG	ORPHA:98880
HP:0001892	Abnormal bleeding	2266	FGG	ORPHA:98881
HP:0001892	Abnormal bleeding	2266	FGG	ORPHA:101041
HP:0001892	Abnormal bleeding	2243	FGA	OMIM:202400
HP:0001892	Abnormal bleeding	2243	FGA	ORPHA:98880
HP:0001892	Abnormal bleeding	2243	FGA	ORPHA:98881
HP:0001892	Abnormal bleeding	2243	FGA	ORPHA:101041
HP:0001892	Abnormal bleeding	2244	FGB	OMIM:202400
HP:0001892	Abnormal bleeding	2244	FGB	ORPHA:98880
HP:0001892	Abnormal bleeding	2244	FGB	ORPHA:98881
HP:0001892	Abnormal bleeding	2244	FGB	ORPHA:101041
HP:0001892	Abnormal bleeding	3998	LMAN1	OMIM:227300
HP:0001892	Abnormal bleeding	5193	PEX12	OMIM:266510
HP:0001892	Abnormal bleeding	657	BMPR1A	ORPHA:329971
HP:0001892	Abnormal bleeding	657	BMPR1A	ORPHA:79076
HP:0001892	Abnormal bleeding	657	BMPR1A	ORPHA:157794
HP:0001892	Abnormal bleeding	4089	SMAD4	ORPHA:329971
HP:0001892	Abnormal bleeding	2022	ENG	ORPHA:329971
HP:0001892	Abnormal bleeding	811	CALR	ORPHA:824
HP:0001892	Abnormal bleeding	811	CALR	ORPHA:3318
HP:0001892	Abnormal bleeding	54790	TET2	ORPHA:824
HP:0001892	Abnormal bleeding	54790	TET2	ORPHA:75564
HP:0001892	Abnormal bleeding	54790	TET2	ORPHA:98826
HP:0001892	Abnormal bleeding	54790	TET2	ORPHA:3318
HP:0001892	Abnormal bleeding	2057	EPOR	ORPHA:90042
HP:0001892	Abnormal bleeding	6261	RYR1	ORPHA:466650
HP:0001892	Abnormal bleeding	80270	HSD3B7	ORPHA:79301
HP:0001892	Abnormal bleeding	23451	SF3B1	ORPHA:75564
HP:0001892	Abnormal bleeding	2677	GGCX	ORPHA:91135
HP:0001892	Abnormal bleeding	2677	GGCX	OMIM:277450
HP:0001892	Abnormal bleeding	2677	GGCX	OMIM:610842
HP:0001892	Abnormal bleeding	10559	SLC35A1	ORPHA:238459
HP:0001892	Abnormal bleeding	948	CD36	OMIM:608404
HP:0001892	Abnormal bleeding	79868	ALG13	OMIM:300884
HP:0001892	Abnormal bleeding	5568	PRKACG	OMIM:616176
HP:0001892	Abnormal bleeding	2162	F13A1	OMIM:613225
HP:0001892	Abnormal bleeding	2160	F11	OMIM:612416
HP:0001892	Abnormal bleeding	2160	F11	ORPHA:329
HP:0001892	Abnormal bleeding	2542	SLC37A4	ORPHA:79259
HP:0001892	Abnormal bleeding	23218	NBEAL2	OMIM:139090
HP:0001892	Abnormal bleeding	23218	NBEAL2	ORPHA:721
HP:0001892	Abnormal bleeding	2533	FYB1	OMIM:273900
HP:0001892	Abnormal bleeding	8029	CUBN	ORPHA:35858
HP:0001892	Abnormal bleeding	81693	AMN	ORPHA:35858
HP:0001892	Abnormal bleeding	2161	F12	ORPHA:330
HP:0001892	Abnormal bleeding	6609	SMPD1	ORPHA:77293
HP:0001892	Abnormal bleeding	196527	ANO6	OMIM:262890
HP:0001892	Abnormal bleeding	6208	RPS14	ORPHA:86841
HP:0001892	Abnormal bleeding	113189	CHST14	ORPHA:2953
HP:0001892	Abnormal bleeding	29940	DSE	ORPHA:2953
HP:0001892	Abnormal bleeding	91869	RFT1	ORPHA:244310
HP:0001892	Abnormal bleeding	2165	F13B	OMIM:613235
HP:0001892	Abnormal bleeding	2538	G6PC1	OMIM:232200
HP:0001892	Abnormal bleeding	3818	KLKB1	OMIM:612423
HP:0001892	Abnormal bleeding	5921	RASA1	ORPHA:90307
HP:0001892	Abnormal bleeding	5921	RASA1	ORPHA:137667
HP:0001892	Abnormal bleeding	2147	F2	ORPHA:325
HP:0001892	Abnormal bleeding	5351	PLOD1	ORPHA:1900
HP:0001892	Abnormal bleeding	7389	UROD	ORPHA:95159
HP:0001892	Abnormal bleeding	1130	LYST	ORPHA:167
HP:0001892	Abnormal bleeding	4547	MTTP	ORPHA:14
HP:0001892	Abnormal bleeding	4627	MYH9	OMIM:155100
HP:0001892	Abnormal bleeding	1281	COL3A1	ORPHA:286
HP:0001892	Abnormal bleeding	26276	VPS33B	OMIM:208085
HP:0001892	Abnormal bleeding	546	ATRX	ORPHA:231401
HP:0001892	Abnormal bleeding	2313	FLI1	OMIM:617443
HP:0001892	Abnormal bleeding	2313	FLI1	ORPHA:370348
HP:0001892	Abnormal bleeding	57511	COG6	OMIM:614576
HP:0001892	Abnormal bleeding	5728	PTEN	ORPHA:79076
HP:0001892	Abnormal bleeding	375	ARF1	ORPHA:98892
HP:0001892	Abnormal bleeding	4131	MAP1B	ORPHA:98892
HP:0001892	Abnormal bleeding	2316	FLNA	ORPHA:98892
HP:0001892	Abnormal bleeding	23327	NEDD4L	ORPHA:98892
HP:0001892	Abnormal bleeding	160418	TMTC3	ORPHA:98892
HP:0001892	Abnormal bleeding	10564	ARFGEF2	ORPHA:98892
HP:0001892	Abnormal bleeding	55780	ERMARD	ORPHA:98892
HP:0001892	Abnormal bleeding	3674	ITGA2B	OMIM:187800
HP:0001892	Abnormal bleeding	3674	ITGA2B	ORPHA:853
HP:0001892	Abnormal bleeding	9056	SLC7A7	ORPHA:470
HP:0001892	Abnormal bleeding	2155	F7	OMIM:227500
HP:0001892	Abnormal bleeding	26585	GREM1	ORPHA:157794
HP:0001892	Abnormal bleeding	83706	FERMT3	OMIM:612840
HP:0001892	Abnormal bleeding	64805	P2RY12	OMIM:609821
HP:0001892	Abnormal bleeding	5345	SERPINF2	ORPHA:79
HP:0001892	Abnormal bleeding	4247	MGAT2	ORPHA:79329
HP:0001892	Abnormal bleeding	493856	CISD2	OMIM:604928
HP:0001892	Abnormal bleeding	89781	HPS4	OMIM:614073
HP:0001892	Abnormal bleeding	84343	HPS3	OMIM:614072
HP:0001892	Abnormal bleeding	6786	STIM1	OMIM:185070
HP:0001892	Abnormal bleeding	2050	EPHB4	ORPHA:137667
HP:0001892	Abnormal bleeding	10165	SLC25A13	ORPHA:247598
HP:0001892	Abnormal bleeding	6714	SRC	OMIM:616937
HP:0001892	Abnormal bleeding	2683	B4GALT1	ORPHA:79332
HP:0001892	Abnormal bleeding	3673	ITGA2	ORPHA:853
HP:0001892	Abnormal bleeding	135228	CD109	ORPHA:853
HP:0001892	Abnormal bleeding	79001	VKORC1	OMIM:607473
HP:0001892	Abnormal bleeding	2623	GATA1	ORPHA:231393
HP:0001892	Abnormal bleeding	2623	GATA1	ORPHA:79277
HP:0001892	Abnormal bleeding	4351	MPI	OMIM:602579
HP:0001892	Abnormal bleeding	348	APOE	ORPHA:158029
HP:0001892	Abnormal bleeding	2153	F5	OMIM:227400
HP:0001892	Abnormal bleeding	22800	RRAS2	ORPHA:648
HP:0001892	Abnormal bleeding	867	CBL	ORPHA:648
HP:0001892	Abnormal bleeding	8216	LZTR1	ORPHA:648
HP:0001892	Abnormal bleeding	6016	RIT1	ORPHA:648
HP:0001892	Abnormal bleeding	6237	RRAS	ORPHA:648
HP:0001892	Abnormal bleeding	5894	RAF1	ORPHA:648
HP:0001892	Abnormal bleeding	22808	MRAS	ORPHA:648
HP:0001892	Abnormal bleeding	3845	KRAS	ORPHA:648
HP:0001892	Abnormal bleeding	200734	SPRED2	ORPHA:648
HP:0001892	Abnormal bleeding	4893	NRAS	ORPHA:648
HP:0001892	Abnormal bleeding	6654	SOS1	ORPHA:648
HP:0001892	Abnormal bleeding	6654	SOS1	OMIM:610733
HP:0001892	Abnormal bleeding	6655	SOS2	ORPHA:648
HP:0001892	Abnormal bleeding	5781	PTPN11	ORPHA:648
HP:0001892	Abnormal bleeding	5781	PTPN11	OMIM:163950
HP:0001892	Abnormal bleeding	5922	RASA2	ORPHA:648
HP:0001892	Abnormal bleeding	5795	PTPRJ	OMIM:620484
HP:0001892	Abnormal bleeding	64241	ABCG8	OMIM:210250
HP:0001892	Abnormal bleeding	6774	STAT3	ORPHA:520
HP:0001892	Abnormal bleeding	5371	PML	ORPHA:520
HP:0001892	Abnormal bleeding	5914	RARA	ORPHA:520
HP:0001892	Abnormal bleeding	359948	IRF2BP2	ORPHA:520
HP:0001892	Abnormal bleeding	81608	FIP1L1	ORPHA:520
HP:0001892	Abnormal bleeding	4869	NPM1	ORPHA:520
HP:0001892	Abnormal bleeding	5573	PRKAR1A	ORPHA:520
HP:0001892	Abnormal bleeding	54880	BCOR	ORPHA:520
HP:0001892	Abnormal bleeding	64859	NABP1	ORPHA:520
HP:0001892	Abnormal bleeding	6777	STAT5B	ORPHA:520
HP:0001892	Abnormal bleeding	4926	NUMA1	ORPHA:520
HP:0001892	Abnormal bleeding	7704	ZBTB16	ORPHA:520
HP:0001892	Abnormal bleeding	79718	TBL1XR1	ORPHA:520
HP:0001892	Abnormal bleeding	81570	CLPB	OMIM:616271
HP:0001892	Abnormal bleeding	7046	TGFBR1	ORPHA:60030
HP:0001892	Abnormal bleeding	10526	IPO8	ORPHA:60030
HP:0001892	Abnormal bleeding	7048	TGFBR2	ORPHA:60030
HP:0001892	Abnormal bleeding	7042	TGFB2	ORPHA:60030
HP:0001892	Abnormal bleeding	7043	TGFB3	ORPHA:60030
HP:0001892	Abnormal bleeding	4087	SMAD2	ORPHA:60030
HP:0001892	Abnormal bleeding	4088	SMAD3	ORPHA:60030
HP:0001892	Abnormal bleeding	10019	SH2B3	ORPHA:3318
HP:0001892	Abnormal bleeding	7157	TP53	ORPHA:3318
HP:0001892	Abnormal bleeding	7450	VWF	OMIM:277480
HP:0001892	Abnormal bleeding	2582	GALE	OMIM:620776
HP:0001892	Abnormal bleeding	5054	SERPINE1	OMIM:613329
HP:0001892	Abnormal bleeding	7390	UROS	ORPHA:79277
HP:0001892	Abnormal bleeding	673	BRAF	OMIM:163950
HP:0001892	Abnormal bleeding	5604	MAP2K1	OMIM:163950
HP:0001892	Abnormal bleeding	2629	GBA1	ORPHA:77259
HP:0001892	Abnormal bleeding	950	SCARB2	ORPHA:77259
HP:0001892	Abnormal bleeding	4613	MYCN	ORPHA:635
HP:0001892	Abnormal bleeding	238	ALK	ORPHA:635
HP:0001892	Abnormal bleeding	389421	LIN28B	ORPHA:635
HP:0001892	Abnormal bleeding	4004	LMO1	ORPHA:635
HP:0001892	Abnormal bleeding	57531	HACE1	ORPHA:635
HP:0001892	Abnormal bleeding	8929	PHOX2B	ORPHA:635
HP:0001892	Abnormal bleeding	8328	GFI1B	OMIM:187900
HP:0001892	Abnormal bleeding	875	CBS	ORPHA:394
HP:0001892	Abnormal bleeding	2048	EPHB2	OMIM:618462
HP:0001892	Abnormal bleeding	5155	PDGFB	ORPHA:1980
HP:0001892	Abnormal bleeding	9213	XPR1	ORPHA:1980
HP:0001892	Abnormal bleeding	5159	PDGFRB	ORPHA:1980
HP:0001892	Abnormal bleeding	57462	MYORG	ORPHA:1980
HP:0001892	Abnormal bleeding	6575	SLC20A2	ORPHA:1980
HP:0001892	Abnormal bleeding	58494	JAM2	ORPHA:1980
HP:0001892	Abnormal bleeding	5627	PROS1	ORPHA:743
HP:0001892	Abnormal bleeding	2767	GNA11	ORPHA:1556
HP:0001892	Abnormal bleeding	151188	ARL6IP6	ORPHA:1556
HP:0001892	Abnormal bleeding	2548	GAA	OMIM:232300
HP:0001892	Abnormal bleeding	81704	DOCK8	OMIM:243700
HP:0001892	Abnormal bleeding	1471	CST3	OMIM:105150
HP:0001892	Abnormal bleeding	1798	DPAGT1	ORPHA:86309
HP:0001892	Abnormal bleeding	54809	SAMD9	OMIM:617053
HP:0001892	Abnormal bleeding	65062	TMEM237	OMIM:614424
HP:0001892	Abnormal bleeding	2776	GNAQ	ORPHA:624
HP:0001892	Abnormal bleeding	4000	LMNA	ORPHA:740
HP:0001892	Abnormal bleeding	4000	LMNA	ORPHA:363618
HP:0001892	Abnormal bleeding	10269	ZMPSTE24	ORPHA:740
HP:0001892	Abnormal bleeding	249	ALPL	OMIM:241500
HP:0001892	Abnormal bleeding	4854	NOTCH3	ORPHA:136
HP:0001892	Abnormal bleeding	5373	PMM2	ORPHA:79318
HP:0001892	Abnormal bleeding	889	KRIT1	OMIM:116860
HP:0001892	Abnormal bleeding	1284	COL4A2	OMIM:614483
HP:0001892	Abnormal bleeding	340665	CYP26C1	ORPHA:398189
HP:0001892	Abnormal bleeding	25942	SIN3A	OMIM:613406
HP:0001892	Abnormal bleeding	55901	THSD1	ORPHA:231160
HP:0001892	Abnormal bleeding	7049	TGFBR3	ORPHA:231160
HP:0001892	Abnormal bleeding	83854	ANGPTL6	ORPHA:231160
HP:0001892	Abnormal bleeding	90952	ESAM	OMIM:620371
HP:0001892	Abnormal bleeding	171023	ASXL1	ORPHA:98850
HP:0001892	Abnormal bleeding	6427	SRSF2	ORPHA:98850
HP:0001892	Abnormal bleeding	229	ALDOB	OMIM:229600
HP:0001892	Abnormal bleeding	4072	EPCAM	ORPHA:144
HP:0001892	Abnormal bleeding	4292	MLH1	ORPHA:144
HP:0001892	Abnormal bleeding	5395	PMS2	ORPHA:144
HP:0001892	Abnormal bleeding	2956	MSH6	ORPHA:144
HP:0001892	Abnormal bleeding	5378	PMS1	ORPHA:144
HP:0001892	Abnormal bleeding	4436	MSH2	ORPHA:144
HP:0001892	Abnormal bleeding	4609	MYC	ORPHA:543
HP:0001892	Abnormal bleeding	64218	SEMA4A	ORPHA:440437
HP:0001892	Abnormal bleeding	472	ATM	ORPHA:440437
HP:0001892	Abnormal bleeding	5426	POLE	ORPHA:440437
HP:0001892	Abnormal bleeding	675	BRCA2	ORPHA:440437
HP:0001892	Abnormal bleeding	6224	RPS20	ORPHA:440437
HP:0001892	Abnormal bleeding	4595	MUTYH	ORPHA:440437
HP:0001892	Abnormal bleeding	5424	POLD1	ORPHA:440437
HP:0001892	Abnormal bleeding	11200	CHEK2	ORPHA:440437
HP:0001892	Abnormal bleeding	10320	IKZF1	ORPHA:36426
HP:0001892	Abnormal bleeding	3930	LBR	OMIM:613471
HP:0001892	Abnormal bleeding	26277	TINF2	OMIM:613990
HP:0001892	Abnormal bleeding	3248	HPGD	ORPHA:2796
HP:0001892	Abnormal bleeding	6578	SLCO2A1	ORPHA:2796
HP:0001892	Abnormal bleeding	22827	PUF60	ORPHA:508488
HP:0001892	Abnormal bleeding	1499	CTNNB1	ORPHA:873
HP:0001892	Abnormal bleeding	324	APC	ORPHA:873
HP:0001892	Abnormal bleeding	6390	SDHB	ORPHA:97286
HP:0001892	Abnormal bleeding	6390	SDHB	ORPHA:44890
HP:0001892	Abnormal bleeding	6391	SDHC	ORPHA:97286
HP:0001892	Abnormal bleeding	6391	SDHC	ORPHA:44890
HP:0001892	Abnormal bleeding	6392	SDHD	ORPHA:97286
HP:0001892	Abnormal bleeding	7466	WFS1	ORPHA:3463
HP:0001892	Abnormal bleeding	79991	STN1	OMIM:617341
HP:0001892	Abnormal bleeding	64131	XYLT1	OMIM:264800
HP:0001892	Abnormal bleeding	64132	XYLT2	OMIM:264800
HP:0001892	Abnormal bleeding	11231	SEC63	ORPHA:2924
HP:0001892	Abnormal bleeding	5589	PRKCSH	ORPHA:2924
HP:0001892	Abnormal bleeding	4041	LRP5	ORPHA:2924
HP:0001892	Abnormal bleeding	3662	IRF4	ORPHA:3452
HP:0001892	Abnormal bleeding	3516	RBPJ	ORPHA:974
HP:0001892	Abnormal bleeding	4851	NOTCH1	ORPHA:974
HP:0001892	Abnormal bleeding	57514	ARHGAP31	ORPHA:974
HP:0001892	Abnormal bleeding	57572	DOCK6	ORPHA:974
HP:0001892	Abnormal bleeding	285203	EOGT	ORPHA:974
HP:0001892	Abnormal bleeding	199221	DZIP1L	ORPHA:731
HP:0001892	Abnormal bleeding	5314	PKHD1	ORPHA:731
HP:0001892	Abnormal bleeding	6389	SDHA	ORPHA:44890
HP:0001892	Abnormal bleeding	5156	PDGFRA	ORPHA:44890
HP:0001892	Abnormal bleeding	3815	KIT	ORPHA:44890
HP:0001892	Abnormal bleeding	79651	RHBDF2	ORPHA:2198
HP:0001892	Abnormal bleeding	25913	POT1	OMIM:620368
HP:0001892	Abnormal bleeding	2184	FAH	OMIM:276700
HP:0001892	Abnormal bleeding	6794	STK11	ORPHA:2869
HP:0001892	Abnormal bleeding	149233	IL23R	ORPHA:117
HP:0001892	Abnormal bleeding	6775	STAT4	ORPHA:117
HP:0001892	Abnormal bleeding	3586	IL10	ORPHA:117
HP:0001892	Abnormal bleeding	4210	MEFV	ORPHA:117
HP:0001892	Abnormal bleeding	1230	CCR1	ORPHA:117
HP:0001892	Abnormal bleeding	3592	IL12A	ORPHA:117
HP:0001892	Abnormal bleeding	101928376	IL12A-AS1	ORPHA:117
HP:0001892	Abnormal bleeding	7099	TLR4	ORPHA:117
HP:0001892	Abnormal bleeding	3459	IFNGR1	ORPHA:117
HP:0001892	Abnormal bleeding	337867	UBAC2	ORPHA:117
HP:0001892	Abnormal bleeding	51752	ERAP1	ORPHA:117
HP:0001892	Abnormal bleeding	8302	KLRC4	ORPHA:117
HP:0001892	Abnormal bleeding	9968	MED12	OMIM:301068
HP:0001892	Abnormal bleeding	4221	MEN1	ORPHA:652
HP:0001892	Abnormal bleeding	1027	CDKN1B	ORPHA:652
HP:0001892	Abnormal bleeding	1026	CDKN1A	ORPHA:652
HP:0001892	Abnormal bleeding	1030	CDKN2B	ORPHA:652
HP:0001892	Abnormal bleeding	1031	CDKN2C	ORPHA:652
HP:0001892	Abnormal bleeding	64135	IFIH1	OMIM:615846
HP:0001892	Abnormal bleeding	6720	SREBF1	OMIM:158310
HP:0001892	Abnormal bleeding	83483	PLVAP	OMIM:618183
HP:0001892	Abnormal bleeding	57551	TAOK1	OMIM:619575
HP:0001892	Abnormal bleeding	57217	TTC7A	OMIM:243150
HP:0001892	Abnormal bleeding	10616	RBCK1	OMIM:615895
HP:0001892	Abnormal bleeding	9420	CYP7B1	OMIM:613812
HP:0001892	Abnormal bleeding	23600	AMACR	OMIM:214950
HP:0001892	Abnormal bleeding	23600	AMACR	ORPHA:79095
HP:0001892	Abnormal bleeding	10092	ARPC5	OMIM:620565
HP:0001892	Abnormal bleeding	10095	ARPC1B	OMIM:617718
HP:0001892	Abnormal bleeding	3587	IL10RA	OMIM:613148
HP:0001892	Abnormal bleeding	81858	SHARPIN	OMIM:620795
HP:0001892	Abnormal bleeding	80169	CTC1	OMIM:612199
HP:0001892	Abnormal bleeding	745	MYRF	OMIM:618280
HP:0001892	Abnormal bleeding	54453	RIN2	OMIM:613075
HP:0001892	Abnormal bleeding	7058	THBS2	OMIM:620865
HP:0001892	Abnormal bleeding	90993	CREB3L1	OMIM:616229
HP:0001892	Abnormal bleeding	55109	AGGF1	ORPHA:90308
HP:0001892	Abnormal bleeding	5290	PIK3CA	ORPHA:90308
HP:0001892	Abnormal bleeding	2624	GATA2	ORPHA:228423
HP:0001892	Abnormal bleeding	9719	ADAMTSL2	ORPHA:1901
HP:0001892	Abnormal bleeding	8546	AP3B1	OMIM:608233
HP:0001892	Abnormal bleeding	1277	COL1A1	ORPHA:287
HP:0001892	Abnormal bleeding	1289	COL5A1	ORPHA:287
HP:0001892	Abnormal bleeding	1290	COL5A2	ORPHA:287
HP:0001892	Abnormal bleeding	7010	TEK	ORPHA:1059
HP:0001892	Abnormal bleeding	9790	BMS1	ORPHA:1114
HP:0001892	Abnormal bleeding	5339	PLEC	ORPHA:1114
HP:0001892	Abnormal bleeding	10054	UBA2	ORPHA:1114
HP:0001892	Abnormal bleeding	3691	ITGB4	ORPHA:1114
HP:0001892	Abnormal bleeding	54567	DLL4	ORPHA:1114
HP:0001892	Abnormal bleeding	5605	MAP2K2	ORPHA:638
HP:0001892	Abnormal bleeding	4763	NF1	ORPHA:638
HP:0001892	Abnormal bleeding	1376	CPT2	OMIM:608836
HP:0001892	Abnormal bleeding	54820	NDE1	ORPHA:2177
HP:0001892	Abnormal bleeding	84342	COG8	OMIM:611182
HP:0001892	Abnormal bleeding	84342	COG8	ORPHA:95428
HP:0001892	Abnormal bleeding	6247	RS1	ORPHA:792
HP:0001892	Abnormal bleeding	6247	RS1	OMIM:312700
HP:0001892	Abnormal bleeding	23554	TSPAN12	ORPHA:891
HP:0001892	Abnormal bleeding	79797	ZNF408	ORPHA:891
HP:0001892	Abnormal bleeding	726	CAPN5	OMIM:193235
HP:0001892	Abnormal bleeding	7439	BEST1	OMIM:193220
HP:0001892	Abnormal bleeding	5925	RB1	OMIM:180200
HP:0001892	Abnormal bleeding	57105	CYSLTR2	ORPHA:39044
HP:0001892	Abnormal bleeding	23137	SMC5	OMIM:620185
HP:0001892	Abnormal bleeding	3075	CFH	ORPHA:244242
HP:0001892	Abnormal bleeding	3426	CFI	ORPHA:244242
HP:0001892	Abnormal bleeding	4179	CD46	ORPHA:244242
HP:0001892	Abnormal bleeding	101101692	HELLPAR	ORPHA:244242
HP:0001892	Abnormal bleeding	7248	TSC1	ORPHA:805
HP:0001892	Abnormal bleeding	7249	TSC2	ORPHA:805
HP:0001892	Abnormal bleeding	3712	IVD	OMIM:243500
HP:0001892	Abnormal bleeding	28976	ACAD9	ORPHA:99901
HP:0001892	Abnormal bleeding	4594	MMUT	OMIM:251000
HP:0001892	Abnormal bleeding	5095	PCCA	OMIM:606054
HP:0001892	Abnormal bleeding	5096	PCCB	OMIM:606054
HP:0001892	Abnormal bleeding	4693	NDP	ORPHA:91495
HP:0001892	Abnormal bleeding	220202	ATOH7	ORPHA:91495
HP:0001892	Abnormal bleeding	8322	FZD4	ORPHA:91495
HP:0001892	Abnormal bleeding	3043	HBB	ORPHA:232
HP:0001892	Abnormal bleeding	9839	ZEB2	ORPHA:261552
HP:0001892	Abnormal bleeding	5903	RANBP2	ORPHA:88619
HP:0001892	Abnormal bleeding	200931	SLC51A	OMIM:619484
HP:0001892	Abnormal bleeding	3848	KRT1	ORPHA:79503
HP:0001892	Abnormal bleeding	64376	IKZF5	OMIM:619130
HP:0001892	Abnormal bleeding	8312	AXIN1	OMIM:620558
HP:0001892	Abnormal bleeding	23545	ATP6V0A2	ORPHA:357074
HP:0001892	Abnormal bleeding	523	ATP6V1A	ORPHA:357074
HP:0001892	Abnormal bleeding	529	ATP6V1E1	ORPHA:357074
HP:0001892	Abnormal bleeding	58484	NLRC4	OMIM:616050
HP:0001892	Abnormal bleeding	440275	EIF2AK4	ORPHA:199241
HP:0001892	Abnormal bleeding	83872	HMCN1	OMIM:603075
HP:0001892	Abnormal bleeding	9939	RBM8A	OMIM:274000
HP:0001892	Abnormal bleeding	4774	NFIA	ORPHA:401986
HP:0001892	Abnormal bleeding	284058	KANSL1	ORPHA:363965
HP:0001892	Abnormal bleeding	284058	KANSL1	ORPHA:363958
HP:0001892	Abnormal bleeding	100131801	PET100	OMIM:619055
HP:0001892	Abnormal bleeding	92935	MARS2	OMIM:616430
HP:0001892	Abnormal bleeding	26047	CNTNAP2	OMIM:610042
HP:0001892	Abnormal bleeding	55788	LMBRD1	ORPHA:79284
HP:0001892	Abnormal bleeding	6678	SPARC	OMIM:616507
HP:0001892	Abnormal bleeding	165918	RNF168	ORPHA:420741
HP:0001892	Abnormal bleeding	1725	DHPS	OMIM:618480
HP:0001892	Abnormal bleeding	1314	COPA	OMIM:616414
HP:0001892	Abnormal bleeding	10664	CTCF	ORPHA:363611
HP:0001892	Abnormal bleeding	57169	ZNFX1	OMIM:619644
HP:0001892	Abnormal bleeding	3431	SP110	ORPHA:79124
HP:0001892	Abnormal bleeding	23299	BICD2	OMIM:618291
HP:0001892	Abnormal bleeding	2639	GCDH	ORPHA:25
HP:0001892	Abnormal bleeding	2639	GCDH	OMIM:231670
HP:0001892	Abnormal bleeding	1785	DNM2	OMIM:615368
HP:0001892	Abnormal bleeding	1161	ERCC8	ORPHA:90324
HP:0001892	Abnormal bleeding	2074	ERCC6	ORPHA:90324
HP:0001892	Abnormal bleeding	25974	MMACHC	ORPHA:79282
HP:0001892	Abnormal bleeding	3703	STT3A	OMIM:619714
HP:0001892	Abnormal bleeding	8241	RBM10	OMIM:311900
HP:0004845	Acute monocytic leukemia	861	RUNX1	OMIM:601399
HP:0004845	Acute monocytic leukemia	161742	SPRED1	ORPHA:137605
HP:0004845	Acute monocytic leukemia	1991	ELANE	OMIM:202700
HP:0004831	Recurrent thromboembolism	3273	HRG	OMIM:613116
HP:0004831	Recurrent thromboembolism	462	SERPINC1	ORPHA:82
HP:0025669	Abnormal neck physiology	9241	NOG	OMIM:184460
HP:0025669	Abnormal neck physiology	6335	SCN9A	ORPHA:33069
HP:0025669	Abnormal neck physiology	6326	SCN2A	ORPHA:33069
HP:0025669	Abnormal neck physiology	2554	GABRA1	ORPHA:33069
HP:0025669	Abnormal neck physiology	6323	SCN1A	ORPHA:33069
HP:0025669	Abnormal neck physiology	6324	SCN1B	ORPHA:33069
HP:0025669	Abnormal neck physiology	57526	PCDH19	ORPHA:33069
HP:0025669	Abnormal neck physiology	2566	GABRG2	ORPHA:33069
HP:0025669	Abnormal neck physiology	29895	MYL11	OMIM:619110
HP:0025669	Abnormal neck physiology	9573	GDF3	ORPHA:2345
HP:0025669	Abnormal neck physiology	392255	GDF6	ORPHA:2345
HP:0025669	Abnormal neck physiology	4222	MEOX1	ORPHA:2345
HP:0025669	Abnormal neck physiology	90	ACVR1	OMIM:135100
HP:0025669	Abnormal neck physiology	57190	SELENON	OMIM:602771
HP:0025669	Abnormal neck physiology	57190	SELENON	ORPHA:324604
HP:0025669	Abnormal neck physiology	4625	MYH7	ORPHA:324604
HP:0025669	Abnormal neck physiology	7273	TTN	ORPHA:324604
HP:0025669	Abnormal neck physiology	2273	FHL1	OMIM:300696
HP:0025669	Abnormal neck physiology	4000	LMNA	OMIM:181350
HP:0025669	Abnormal neck physiology	11160	ERLIN2	ORPHA:209951
HP:0025669	Abnormal neck physiology	4621	MYH3	OMIM:193700
HP:0025669	Abnormal neck physiology	1292	COL6A2	OMIM:255600
HP:0025669	Abnormal neck physiology	91754	NEK9	OMIM:617022
HP:0025669	Abnormal neck physiology	4722	NDUFS3	OMIM:618230
HP:0025669	Abnormal neck physiology	1280	COL2A1	OMIM:616583
HP:0025669	Abnormal neck physiology	22943	DKK1	ORPHA:268882
HP:0025669	Abnormal neck physiology	54820	NDE1	ORPHA:2177
HP:0025669	Abnormal neck physiology	355	FAS	ORPHA:3437
HP:0025669	Abnormal neck physiology	26191	PTPN22	ORPHA:3437
HP:0025669	Abnormal neck physiology	3661	IRF3	OMIM:616532
HP:0025669	Abnormal neck physiology	773	CACNA1A	ORPHA:569
HP:0025669	Abnormal neck physiology	112476	PRRT2	ORPHA:569
HP:0025669	Abnormal neck physiology	477	ATP1A2	ORPHA:569
HP:0025669	Abnormal neck physiology	7187	TRAF3	ORPHA:1930
HP:0025669	Abnormal neck physiology	81622	UNC93B1	ORPHA:1930
HP:0025669	Abnormal neck physiology	148022	TICAM1	ORPHA:1930
HP:0025669	Abnormal neck physiology	7098	TLR3	ORPHA:1930
HP:0025669	Abnormal neck physiology	29110	TBK1	ORPHA:1930
HP:0025668	Abnormal neck morphology	64132	XYLT2	OMIM:605822
HP:0025668	Abnormal neck morphology	64132	XYLT2	ORPHA:85194
HP:0025668	Abnormal neck morphology	5290	PIK3CA	OMIM:612918
HP:0025668	Abnormal neck morphology	8036	SHOC2	OMIM:607721
HP:0025668	Abnormal neck morphology	8036	SHOC2	ORPHA:2701
HP:0025668	Abnormal neck morphology	6909	TBX2	OMIM:618223
HP:0025668	Abnormal neck morphology	8216	LZTR1	OMIM:616564
HP:0025668	Abnormal neck morphology	8216	LZTR1	ORPHA:648
HP:0025668	Abnormal neck morphology	8216	LZTR1	OMIM:605275
HP:0025668	Abnormal neck morphology	9780	PIEZO1	OMIM:616843
HP:0025668	Abnormal neck morphology	6016	RIT1	OMIM:615355
HP:0025668	Abnormal neck morphology	6016	RIT1	ORPHA:648
HP:0025668	Abnormal neck morphology	2733	GLE1	ORPHA:1486
HP:0025668	Abnormal neck morphology	6885	MAP3K7	OMIM:617137
HP:0025668	Abnormal neck morphology	5894	RAF1	OMIM:611554
HP:0025668	Abnormal neck morphology	5894	RAF1	OMIM:611553
HP:0025668	Abnormal neck morphology	5894	RAF1	ORPHA:500
HP:0025668	Abnormal neck morphology	5894	RAF1	ORPHA:648
HP:0025668	Abnormal neck morphology	673	BRAF	OMIM:115150
HP:0025668	Abnormal neck morphology	673	BRAF	ORPHA:1340
HP:0025668	Abnormal neck morphology	673	BRAF	ORPHA:500
HP:0025668	Abnormal neck morphology	673	BRAF	OMIM:613707
HP:0025668	Abnormal neck morphology	673	BRAF	OMIM:613706
HP:0025668	Abnormal neck morphology	673	BRAF	OMIM:163950
HP:0025668	Abnormal neck morphology	29123	ANKRD11	ORPHA:2332
HP:0025668	Abnormal neck morphology	29123	ANKRD11	OMIM:148050
HP:0025668	Abnormal neck morphology	4621	MYH3	OMIM:618469
HP:0025668	Abnormal neck morphology	4621	MYH3	OMIM:178110
HP:0025668	Abnormal neck morphology	4621	MYH3	ORPHA:1147
HP:0025668	Abnormal neck morphology	4621	MYH3	ORPHA:2990
HP:0025668	Abnormal neck morphology	145173	B3GLCT	ORPHA:709
HP:0025668	Abnormal neck morphology	145173	B3GLCT	OMIM:261540
HP:0025668	Abnormal neck morphology	8854	ALDH1A2	OMIM:620025
HP:0025668	Abnormal neck morphology	90459	ERI1	OMIM:620662
HP:0025668	Abnormal neck morphology	6229	RPS24	OMIM:610629
HP:0025668	Abnormal neck morphology	6229	RPS24	ORPHA:124
HP:0025668	Abnormal neck morphology	5781	PTPN11	OMIM:156250
HP:0025668	Abnormal neck morphology	5781	PTPN11	ORPHA:500
HP:0025668	Abnormal neck morphology	5781	PTPN11	ORPHA:648
HP:0025668	Abnormal neck morphology	5781	PTPN11	OMIM:151100
HP:0025668	Abnormal neck morphology	5781	PTPN11	OMIM:163950
HP:0025668	Abnormal neck morphology	84162	BLTP1	OMIM:617822
HP:0025668	Abnormal neck morphology	4010	LMX1B	ORPHA:495818
HP:0025668	Abnormal neck morphology	6812	STXBP1	ORPHA:495818
HP:0025668	Abnormal neck morphology	2624	GATA2	OMIM:614038
HP:0025668	Abnormal neck morphology	23291	FBXW11	OMIM:618914
HP:0025668	Abnormal neck morphology	4893	NRAS	OMIM:613224
HP:0025668	Abnormal neck morphology	4893	NRAS	ORPHA:648
HP:0025668	Abnormal neck morphology	998	CDC42	OMIM:616737
HP:0025668	Abnormal neck morphology	998	CDC42	ORPHA:487796
HP:0025668	Abnormal neck morphology	55636	CHD7	ORPHA:138
HP:0025668	Abnormal neck morphology	55636	CHD7	OMIM:214800
HP:0025668	Abnormal neck morphology	9723	SEMA3E	ORPHA:138
HP:0025668	Abnormal neck morphology	4763	NF1	OMIM:601321
HP:0025668	Abnormal neck morphology	4763	NF1	OMIM:162200
HP:0025668	Abnormal neck morphology	4763	NF1	ORPHA:97685
HP:0025668	Abnormal neck morphology	4763	NF1	ORPHA:638
HP:0025668	Abnormal neck morphology	10559	SLC35A1	OMIM:603585
HP:0025668	Abnormal neck morphology	165	AEBP1	OMIM:618000
HP:0025668	Abnormal neck morphology	165	AEBP1	ORPHA:536532
HP:0025668	Abnormal neck morphology	5925	RB1	ORPHA:1587
HP:0025668	Abnormal neck morphology	5604	MAP2K1	ORPHA:1340
HP:0025668	Abnormal neck morphology	5604	MAP2K1	OMIM:615279
HP:0025668	Abnormal neck morphology	5604	MAP2K1	OMIM:163950
HP:0025668	Abnormal neck morphology	5605	MAP2K2	ORPHA:1340
HP:0025668	Abnormal neck morphology	5605	MAP2K2	ORPHA:638
HP:0025668	Abnormal neck morphology	3845	KRAS	ORPHA:1340
HP:0025668	Abnormal neck morphology	3845	KRAS	OMIM:609942
HP:0025668	Abnormal neck morphology	3845	KRAS	ORPHA:648
HP:0025668	Abnormal neck morphology	7080	NKX2-1	ORPHA:209905
HP:0025668	Abnormal neck morphology	7136	TNNI2	OMIM:601680
HP:0025668	Abnormal neck morphology	7136	TNNI2	ORPHA:1147
HP:0025668	Abnormal neck morphology	8260	NAA10	ORPHA:568
HP:0025668	Abnormal neck morphology	8260	NAA10	OMIM:309800
HP:0025668	Abnormal neck morphology	54880	BCOR	ORPHA:568
HP:0025668	Abnormal neck morphology	54880	BCOR	OMIM:309800
HP:0025668	Abnormal neck morphology	4297	KMT2A	ORPHA:319182
HP:0025668	Abnormal neck morphology	5500	PPP1CB	ORPHA:2701
HP:0025668	Abnormal neck morphology	5500	PPP1CB	OMIM:617506
HP:0025668	Abnormal neck morphology	1954	MEGF8	OMIM:614976
HP:0025668	Abnormal neck morphology	51729	WBP11	OMIM:619227
HP:0025668	Abnormal neck morphology	200734	SPRED2	OMIM:619745
HP:0025668	Abnormal neck morphology	200734	SPRED2	ORPHA:648
HP:0025668	Abnormal neck morphology	7468	NSD2	OMIM:194190
HP:0025668	Abnormal neck morphology	10815	CPLX1	OMIM:194190
HP:0025668	Abnormal neck morphology	1487	CTBP1	OMIM:194190
HP:0025668	Abnormal neck morphology	53834	FGFRL1	OMIM:194190
HP:0025668	Abnormal neck morphology	3954	LETM1	OMIM:194190
HP:0025668	Abnormal neck morphology	3265	HRAS	OMIM:218040
HP:0025668	Abnormal neck morphology	2313	FLI1	ORPHA:2308
HP:0025668	Abnormal neck morphology	57167	SALL4	ORPHA:233
HP:0025668	Abnormal neck morphology	9935	MAFB	ORPHA:233
HP:0025668	Abnormal neck morphology	1123	CHN1	ORPHA:233
HP:0025668	Abnormal neck morphology	6611	SMS	ORPHA:3063
HP:0025668	Abnormal neck morphology	6611	SMS	OMIM:309583
HP:0025668	Abnormal neck morphology	1947	EFNB1	OMIM:304110
HP:0025668	Abnormal neck morphology	6628	SNRPB	OMIM:117650
HP:0025668	Abnormal neck morphology	6628	SNRPB	ORPHA:1393
HP:0025668	Abnormal neck morphology	392255	GDF6	OMIM:118100
HP:0025668	Abnormal neck morphology	392255	GDF6	ORPHA:2345
HP:0025668	Abnormal neck morphology	71	ACTG1	OMIM:614583
HP:0025668	Abnormal neck morphology	71	ACTG1	ORPHA:2995
HP:0025668	Abnormal neck morphology	26005	C2CD3	ORPHA:434179
HP:0025668	Abnormal neck morphology	55617	TASP1	OMIM:618950
HP:0025668	Abnormal neck morphology	1857	DVL3	OMIM:616894
HP:0025668	Abnormal neck morphology	5594	MAPK1	OMIM:619087
HP:0025668	Abnormal neck morphology	202018	TAPT1	OMIM:616897
HP:0025668	Abnormal neck morphology	9772	TMEM94	OMIM:618316
HP:0025668	Abnormal neck morphology	6204	RPS10	OMIM:613308
HP:0025668	Abnormal neck morphology	6204	RPS10	ORPHA:124
HP:0025668	Abnormal neck morphology	3911	LAMA5	OMIM:620076
HP:0025668	Abnormal neck morphology	7169	TPM2	OMIM:108120
HP:0025668	Abnormal neck morphology	7169	TPM2	ORPHA:1147
HP:0025668	Abnormal neck morphology	139285	AMER1	OMIM:300373
HP:0025668	Abnormal neck morphology	2239	GPC4	ORPHA:373
HP:0025668	Abnormal neck morphology	2719	GPC3	ORPHA:373
HP:0025668	Abnormal neck morphology	55120	FANCL	OMIM:614083
HP:0025668	Abnormal neck morphology	7140	TNNT3	ORPHA:1147
HP:0025668	Abnormal neck morphology	259232	NALCN	ORPHA:1147
HP:0025668	Abnormal neck morphology	9487	PIGL	OMIM:280000
HP:0025668	Abnormal neck morphology	7994	KAT6A	OMIM:616268
HP:0025668	Abnormal neck morphology	4000	LMNA	ORPHA:1662
HP:0025668	Abnormal neck morphology	10269	ZMPSTE24	ORPHA:1662
HP:0025668	Abnormal neck morphology	54916	TMEM260	OMIM:617478
HP:0025668	Abnormal neck morphology	84700	MYO18B	OMIM:616549
HP:0025668	Abnormal neck morphology	22800	RRAS2	ORPHA:648
HP:0025668	Abnormal neck morphology	867	CBL	ORPHA:648
HP:0025668	Abnormal neck morphology	867	CBL	OMIM:613563
HP:0025668	Abnormal neck morphology	6237	RRAS	ORPHA:648
HP:0025668	Abnormal neck morphology	22808	MRAS	ORPHA:648
HP:0025668	Abnormal neck morphology	6654	SOS1	ORPHA:648
HP:0025668	Abnormal neck morphology	6654	SOS1	OMIM:610733
HP:0025668	Abnormal neck morphology	6655	SOS2	ORPHA:648
HP:0025668	Abnormal neck morphology	6655	SOS2	OMIM:616559
HP:0025668	Abnormal neck morphology	5922	RASA2	ORPHA:648
HP:0025668	Abnormal neck morphology	1146	CHRNG	ORPHA:2990
HP:0025668	Abnormal neck morphology	2303	FOXC2	ORPHA:33001
HP:0025668	Abnormal neck morphology	2303	FOXC2	OMIM:153400
HP:0025668	Abnormal neck morphology	60	ACTB	ORPHA:2995
HP:0025668	Abnormal neck morphology	6223	RPS19	OMIM:105650
HP:0025668	Abnormal neck morphology	6223	RPS19	ORPHA:124
HP:0025668	Abnormal neck morphology	9469	CHST3	OMIM:245600
HP:0025668	Abnormal neck morphology	26229	B3GAT3	OMIM:245600
HP:0025668	Abnormal neck morphology	6138	RPL15	ORPHA:124
HP:0025668	Abnormal neck morphology	6224	RPS20	ORPHA:124
HP:0025668	Abnormal neck morphology	6165	RPL35A	ORPHA:124
HP:0025668	Abnormal neck morphology	6132	RPL8	ORPHA:124
HP:0025668	Abnormal neck morphology	6232	RPS27	ORPHA:124
HP:0025668	Abnormal neck morphology	55027	HEATR3	ORPHA:124
HP:0025668	Abnormal neck morphology	6160	RPL31	ORPHA:124
HP:0025668	Abnormal neck morphology	6201	RPS7	ORPHA:124
HP:0025668	Abnormal neck morphology	6155	RPL27	ORPHA:124
HP:0025668	Abnormal neck morphology	6234	RPS28	ORPHA:124
HP:0025668	Abnormal neck morphology	6135	RPL11	ORPHA:124
HP:0025668	Abnormal neck morphology	6125	RPL5	ORPHA:124
HP:0025668	Abnormal neck morphology	2623	GATA1	ORPHA:124
HP:0025668	Abnormal neck morphology	6133	RPL9	ORPHA:124
HP:0025668	Abnormal neck morphology	6231	RPS26	ORPHA:124
HP:0025668	Abnormal neck morphology	11224	RPL35	ORPHA:124
HP:0025668	Abnormal neck morphology	6218	RPS17	ORPHA:124
HP:0025668	Abnormal neck morphology	6154	RPL26	ORPHA:124
HP:0025668	Abnormal neck morphology	6210	RPS15A	ORPHA:124
HP:0025668	Abnormal neck morphology	90121	TSR2	ORPHA:124
HP:0025668	Abnormal neck morphology	6141	RPL18	ORPHA:124
HP:0025668	Abnormal neck morphology	6235	RPS29	ORPHA:124
HP:0025668	Abnormal neck morphology	51816	ADA2	ORPHA:124
HP:0025668	Abnormal neck morphology	6261	RYR1	OMIM:619542
HP:0025668	Abnormal neck morphology	54903	MKS1	OMIM:249000
HP:0025668	Abnormal neck morphology	91252	SLC39A13	OMIM:612350
HP:0025668	Abnormal neck morphology	9573	GDF3	ORPHA:2345
HP:0025668	Abnormal neck morphology	4222	MEOX1	ORPHA:2345
HP:0025668	Abnormal neck morphology	6736	SRY	ORPHA:1772
HP:0025668	Abnormal neck morphology	27145	FILIP1	OMIM:620775
HP:0025668	Abnormal neck morphology	3480	IGF1R	OMIM:270450
HP:0025668	Abnormal neck morphology	168667	BMPER	OMIM:608022
HP:0025668	Abnormal neck morphology	3991	LIPE	ORPHA:435660
HP:0025668	Abnormal neck morphology	1718	DHCR24	OMIM:602398
HP:0025668	Abnormal neck morphology	11253	MAN1B1	ORPHA:397941
HP:0025668	Abnormal neck morphology	11253	MAN1B1	OMIM:614202
HP:0025668	Abnormal neck morphology	8367	H4C5	OMIM:619950
HP:0025668	Abnormal neck morphology	2972	BRF1	OMIM:616202
HP:0025668	Abnormal neck morphology	2972	BRF1	ORPHA:444072
HP:0025668	Abnormal neck morphology	9820	CUL7	ORPHA:2616
HP:0025668	Abnormal neck morphology	9820	CUL7	OMIM:273750
HP:0025668	Abnormal neck morphology	23363	OBSL1	ORPHA:2616
HP:0025668	Abnormal neck morphology	23363	OBSL1	OMIM:612921
HP:0025668	Abnormal neck morphology	83987	CCDC8	ORPHA:2616
HP:0025668	Abnormal neck morphology	83987	CCDC8	OMIM:614205
HP:0025668	Abnormal neck morphology	55627	SMPD4	OMIM:618622
HP:0025668	Abnormal neck morphology	10973	ASCC3	OMIM:620700
HP:0025668	Abnormal neck morphology	5361	PLXNA1	OMIM:619955
HP:0025668	Abnormal neck morphology	1836	SLC26A2	ORPHA:56304
HP:0025668	Abnormal neck morphology	1836	SLC26A2	OMIM:256050
HP:0025668	Abnormal neck morphology	1836	SLC26A2	ORPHA:93298
HP:0025668	Abnormal neck morphology	4125	MAN2B1	ORPHA:309282
HP:0025668	Abnormal neck morphology	6662	SOX9	ORPHA:140
HP:0025668	Abnormal neck morphology	51741	WWOX	OMIM:616211
HP:0025668	Abnormal neck morphology	1855	DVL1	OMIM:616331
HP:0025668	Abnormal neck morphology	1855	DVL1	OMIM:180700
HP:0025668	Abnormal neck morphology	1855	DVL1	ORPHA:3107
HP:0025668	Abnormal neck morphology	341640	FREM2	OMIM:617666
HP:0025668	Abnormal neck morphology	65082	VPS33A	OMIM:617303
HP:0025668	Abnormal neck morphology	65082	VPS33A	ORPHA:505248
HP:0025668	Abnormal neck morphology	526	ATP6V1B2	OMIM:616455
HP:0025668	Abnormal neck morphology	526	ATP6V1B2	ORPHA:3473
HP:0025668	Abnormal neck morphology	2201	FBN2	OMIM:121050
HP:0025668	Abnormal neck morphology	3764	KCNJ8	ORPHA:1517
HP:0025668	Abnormal neck morphology	10060	ABCC9	ORPHA:1517
HP:0025668	Abnormal neck morphology	10060	ABCC9	OMIM:239850
HP:0025668	Abnormal neck morphology	84572	GNPTG	OMIM:252605
HP:0025668	Abnormal neck morphology	6023	RMRP	ORPHA:175
HP:0025668	Abnormal neck morphology	6023	RMRP	OMIM:607095
HP:0025668	Abnormal neck morphology	83696	TRAPPC9	OMIM:613192
HP:0025668	Abnormal neck morphology	1020	CDK5	OMIM:616342
HP:0025668	Abnormal neck morphology	10606	PAICS	OMIM:619859
HP:0025668	Abnormal neck morphology	1292	COL6A2	OMIM:620727
HP:0025668	Abnormal neck morphology	1292	COL6A2	ORPHA:75840
HP:0025668	Abnormal neck morphology	4853	NOTCH2	OMIM:102500
HP:0025668	Abnormal neck morphology	4853	NOTCH2	ORPHA:955
HP:0025668	Abnormal neck morphology	55681	SCYL2	OMIM:618766
HP:0025668	Abnormal neck morphology	64359	NXN	ORPHA:1507
HP:0025668	Abnormal neck morphology	4920	ROR2	ORPHA:1507
HP:0025668	Abnormal neck morphology	4920	ROR2	OMIM:268310
HP:0025668	Abnormal neck morphology	3339	HSPG2	ORPHA:1865
HP:0025668	Abnormal neck morphology	3339	HSPG2	OMIM:255800
HP:0025668	Abnormal neck morphology	3339	HSPG2	ORPHA:800
HP:0025668	Abnormal neck morphology	2626	GATA4	ORPHA:251071
HP:0025668	Abnormal neck morphology	59341	TRPV4	OMIM:113500
HP:0025668	Abnormal neck morphology	59341	TRPV4	OMIM:168400
HP:0025668	Abnormal neck morphology	59341	TRPV4	OMIM:184095
HP:0025668	Abnormal neck morphology	59341	TRPV4	OMIM:184252
HP:0025668	Abnormal neck morphology	7020	TFAP2A	OMIM:113620
HP:0025668	Abnormal neck morphology	1501	CTNND2	ORPHA:281
HP:0025668	Abnormal neck morphology	9037	SEMA5A	ORPHA:281
HP:0025668	Abnormal neck morphology	1301	COL11A1	OMIM:228520
HP:0025668	Abnormal neck morphology	1301	COL11A1	ORPHA:2021
HP:0025668	Abnormal neck morphology	93627	TBCK	ORPHA:488632
HP:0025668	Abnormal neck morphology	93627	TBCK	OMIM:616900
HP:0025668	Abnormal neck morphology	4929	NR4A2	ORPHA:1617
HP:0025668	Abnormal neck morphology	10716	TBR1	ORPHA:1617
HP:0025668	Abnormal neck morphology	26040	SETBP1	OMIM:269150
HP:0025668	Abnormal neck morphology	26040	SETBP1	ORPHA:798
HP:0025668	Abnormal neck morphology	26834	RNU4-2	OMIM:620851
HP:0025668	Abnormal neck morphology	4247	MGAT2	OMIM:212066
HP:0025668	Abnormal neck morphology	3476	IGBP1	ORPHA:52055
HP:0025668	Abnormal neck morphology	3476	IGBP1	OMIM:300472
HP:0025668	Abnormal neck morphology	92482	BBIP1	ORPHA:110
HP:0025668	Abnormal neck morphology	80184	CEP290	ORPHA:110
HP:0025668	Abnormal neck morphology	11020	IFT27	ORPHA:110
HP:0025668	Abnormal neck morphology	582	BBS1	ORPHA:110
HP:0025668	Abnormal neck morphology	49855	SCAPER	ORPHA:110
HP:0025668	Abnormal neck morphology	4867	NPHP1	ORPHA:110
HP:0025668	Abnormal neck morphology	51057	WDPCP	ORPHA:110
HP:0025668	Abnormal neck morphology	132320	SCLT1	ORPHA:110
HP:0025668	Abnormal neck morphology	27241	BBS9	ORPHA:110
HP:0025668	Abnormal neck morphology	84984	CEP19	ORPHA:110
HP:0025668	Abnormal neck morphology	22954	TRIM32	ORPHA:110
HP:0025668	Abnormal neck morphology	79738	BBS10	ORPHA:110
HP:0025668	Abnormal neck morphology	123016	TTC8	ORPHA:110
HP:0025668	Abnormal neck morphology	26160	IFT172	ORPHA:110
HP:0025668	Abnormal neck morphology	583	BBS2	ORPHA:110
HP:0025668	Abnormal neck morphology	583	BBS2	OMIM:615981
HP:0025668	Abnormal neck morphology	585	BBS4	ORPHA:110
HP:0025668	Abnormal neck morphology	8195	MKKS	ORPHA:110
HP:0025668	Abnormal neck morphology	54585	LZTFL1	ORPHA:110
HP:0025668	Abnormal neck morphology	55212	BBS7	ORPHA:110
HP:0025668	Abnormal neck morphology	166379	BBS12	ORPHA:110
HP:0025668	Abnormal neck morphology	10806	SDCCAG8	ORPHA:110
HP:0025668	Abnormal neck morphology	157657	CFAP418	ORPHA:110
HP:0025668	Abnormal neck morphology	84100	ARL6	ORPHA:110
HP:0025668	Abnormal neck morphology	129880	BBS5	ORPHA:110
HP:0025668	Abnormal neck morphology	80173	IFT74	ORPHA:110
HP:0025668	Abnormal neck morphology	9895	TECPR2	OMIM:615031
HP:0025668	Abnormal neck morphology	9895	TECPR2	ORPHA:320385
HP:0025668	Abnormal neck morphology	63895	PIEZO2	OMIM:114300
HP:0025668	Abnormal neck morphology	63895	PIEZO2	OMIM:248700
HP:0025668	Abnormal neck morphology	23126	POGZ	OMIM:616364
HP:0025668	Abnormal neck morphology	23126	POGZ	ORPHA:468678
HP:0025668	Abnormal neck morphology	51633	OTUD6B	OMIM:617452
HP:0025668	Abnormal neck morphology	51633	OTUD6B	ORPHA:505237
HP:0025668	Abnormal neck morphology	3572	IL6ST	OMIM:619750
HP:0025668	Abnormal neck morphology	5048	PAFAH1B1	ORPHA:217385
HP:0025668	Abnormal neck morphology	7531	YWHAE	ORPHA:217385
HP:0025668	Abnormal neck morphology	92609	TIMM50	OMIM:617698
HP:0025668	Abnormal neck morphology	79770	TXNDC15	OMIM:619879
HP:0025668	Abnormal neck morphology	2990	GUSB	ORPHA:584
HP:0025668	Abnormal neck morphology	2990	GUSB	OMIM:253220
HP:0025668	Abnormal neck morphology	2736	GLI2	OMIM:610829
HP:0025668	Abnormal neck morphology	79796	ALG9	ORPHA:79328
HP:0025668	Abnormal neck morphology	79796	ALG9	OMIM:608776
HP:0025668	Abnormal neck morphology	79796	ALG9	OMIM:263210
HP:0025668	Abnormal neck morphology	79718	TBL1XR1	OMIM:602342
HP:0025668	Abnormal neck morphology	79718	TBL1XR1	ORPHA:487825
HP:0025668	Abnormal neck morphology	8314	BAP1	OMIM:619762
HP:0025668	Abnormal neck morphology	50485	SMARCAL1	ORPHA:1830
HP:0025668	Abnormal neck morphology	50485	SMARCAL1	OMIM:242900
HP:0025668	Abnormal neck morphology	9968	MED12	OMIM:305450
HP:0025668	Abnormal neck morphology	79728	PALB2	OMIM:610832
HP:0025668	Abnormal neck morphology	6925	TCF4	OMIM:610954
HP:0025668	Abnormal neck morphology	6925	TCF4	ORPHA:2896
HP:0025668	Abnormal neck morphology	2316	FLNA	OMIM:304120
HP:0025668	Abnormal neck morphology	91949	COG7	ORPHA:79333
HP:0025668	Abnormal neck morphology	91949	COG7	OMIM:608779
HP:0025668	Abnormal neck morphology	6473	SHOX	ORPHA:314795
HP:0025668	Abnormal neck morphology	124583	CANT1	OMIM:251450
HP:0025668	Abnormal neck morphology	124583	CANT1	ORPHA:1425
HP:0025668	Abnormal neck morphology	56975	FAM20C	ORPHA:1832
HP:0025668	Abnormal neck morphology	56975	FAM20C	OMIM:259775
HP:0025668	Abnormal neck morphology	2556	GABRA3	OMIM:301091
HP:0025668	Abnormal neck morphology	3423	IDS	OMIM:309900
HP:0025668	Abnormal neck morphology	23483	TGDS	OMIM:616145
HP:0025668	Abnormal neck morphology	2260	FGFR1	OMIM:166250
HP:0025668	Abnormal neck morphology	25836	NIPBL	OMIM:122470
HP:0025668	Abnormal neck morphology	25836	NIPBL	ORPHA:199
HP:0025668	Abnormal neck morphology	2720	GLB1	OMIM:230500
HP:0025668	Abnormal neck morphology	7476	WNT7A	OMIM:276820
HP:0025668	Abnormal neck morphology	7476	WNT7A	ORPHA:2879
HP:0025668	Abnormal neck morphology	2317	FLNB	OMIM:272460
HP:0025668	Abnormal neck morphology	2317	FLNB	OMIM:108721
HP:0025668	Abnormal neck morphology	2317	FLNB	OMIM:108720
HP:0025668	Abnormal neck morphology	2778	GNAS	ORPHA:79443
HP:0025668	Abnormal neck morphology	2778	GNAS	ORPHA:79444
HP:0025668	Abnormal neck morphology	2778	GNAS	ORPHA:94089
HP:0025668	Abnormal neck morphology	2778	GNAS	OMIM:612463
HP:0025668	Abnormal neck morphology	2778	GNAS	OMIM:612462
HP:0025668	Abnormal neck morphology	2778	GNAS	OMIM:103580
HP:0025668	Abnormal neck morphology	1280	COL2A1	ORPHA:485
HP:0025668	Abnormal neck morphology	1280	COL2A1	ORPHA:94068
HP:0025668	Abnormal neck morphology	1280	COL2A1	OMIM:156550
HP:0025668	Abnormal neck morphology	1280	COL2A1	OMIM:183900
HP:0025668	Abnormal neck morphology	1280	COL2A1	OMIM:271700
HP:0025668	Abnormal neck morphology	1280	COL2A1	OMIM:151210
HP:0025668	Abnormal neck morphology	1280	COL2A1	ORPHA:93315
HP:0025668	Abnormal neck morphology	9742	IFT140	OMIM:266920
HP:0025668	Abnormal neck morphology	54101	RIPK4	OMIM:263650
HP:0025668	Abnormal neck morphology	26173	INTS1	OMIM:618571
HP:0025668	Abnormal neck morphology	9427	ECEL1	OMIM:615065
HP:0025668	Abnormal neck morphology	93587	TRMT10A	OMIM:616033
HP:0025668	Abnormal neck morphology	93587	TRMT10A	ORPHA:391408
HP:0025668	Abnormal neck morphology	29968	PSAT1	OMIM:616038
HP:0025668	Abnormal neck morphology	29968	PSAT1	ORPHA:284417
HP:0025668	Abnormal neck morphology	5426	POLE	OMIM:618336
HP:0025668	Abnormal neck morphology	54808	DYM	ORPHA:239
HP:0025668	Abnormal neck morphology	54808	DYM	OMIM:607326
HP:0025668	Abnormal neck morphology	54808	DYM	OMIM:223800
HP:0025668	Abnormal neck morphology	2879	GPX4	OMIM:250220
HP:0025668	Abnormal neck morphology	9949	AMMECR1	OMIM:300990
HP:0025668	Abnormal neck morphology	4921	DDR2	OMIM:271665
HP:0025668	Abnormal neck morphology	22827	PUF60	ORPHA:508498
HP:0025668	Abnormal neck morphology	22827	PUF60	ORPHA:508488
HP:0025668	Abnormal neck morphology	22827	PUF60	OMIM:615583
HP:0025668	Abnormal neck morphology	65992	DDRGK1	OMIM:602557
HP:0025668	Abnormal neck morphology	65992	DDRGK1	ORPHA:93352
HP:0025668	Abnormal neck morphology	10466	COG5	ORPHA:263487
HP:0025668	Abnormal neck morphology	2187	FANCB	OMIM:300514
HP:0025668	Abnormal neck morphology	23314	SATB2	ORPHA:251028
HP:0025668	Abnormal neck morphology	8675	STX16	ORPHA:94089
HP:0025668	Abnormal neck morphology	55869	HDAC8	OMIM:300882
HP:0025668	Abnormal neck morphology	55869	HDAC8	ORPHA:199
HP:0025668	Abnormal neck morphology	91754	NEK9	OMIM:617022
HP:0025668	Abnormal neck morphology	55215	FANCI	OMIM:609053
HP:0025668	Abnormal neck morphology	23524	SRRM2	OMIM:620439
HP:0025668	Abnormal neck morphology	5010	CLDN11	OMIM:619328
HP:0025668	Abnormal neck morphology	176	ACAN	OMIM:612813
HP:0025668	Abnormal neck morphology	176	ACAN	ORPHA:171866
HP:0025668	Abnormal neck morphology	9126	SMC3	OMIM:610759
HP:0025668	Abnormal neck morphology	9126	SMC3	ORPHA:199
HP:0025668	Abnormal neck morphology	79068	FTO	OMIM:612938
HP:0025668	Abnormal neck morphology	3417	IDH1	ORPHA:99646
HP:0025668	Abnormal neck morphology	3039	HBA1	ORPHA:98791
HP:0025668	Abnormal neck morphology	3040	HBA2	ORPHA:98791
HP:0025668	Abnormal neck morphology	10940	POP1	OMIM:617396
HP:0025668	Abnormal neck morphology	54496	PRMT7	OMIM:617157
HP:0025668	Abnormal neck morphology	54496	PRMT7	ORPHA:464288
HP:0025668	Abnormal neck morphology	10082	GPC6	OMIM:258315
HP:0025668	Abnormal neck morphology	11145	PLAAT3	OMIM:620683
HP:0025668	Abnormal neck morphology	23389	MED13L	ORPHA:369891
HP:0025668	Abnormal neck morphology	23389	MED13L	OMIM:616789
HP:0025668	Abnormal neck morphology	1312	COMT	ORPHA:567
HP:0025668	Abnormal neck morphology	221037	JMJD1C	ORPHA:567
HP:0025668	Abnormal neck morphology	2812	GP1BB	ORPHA:567
HP:0025668	Abnormal neck morphology	6239	RREB1	ORPHA:567
HP:0025668	Abnormal neck morphology	6899	TBX1	ORPHA:567
HP:0025668	Abnormal neck morphology	7290	HIRA	ORPHA:567
HP:0025668	Abnormal neck morphology	9632	SEC24C	ORPHA:567
HP:0025668	Abnormal neck morphology	7353	UFD1	ORPHA:567
HP:0025668	Abnormal neck morphology	421	ARVCF	ORPHA:567
HP:0025668	Abnormal neck morphology	7319	UBE2A	OMIM:300860
HP:0025668	Abnormal neck morphology	3977	LIFR	OMIM:601559
HP:0025668	Abnormal neck morphology	5277	PIGA	OMIM:300868
HP:0025668	Abnormal neck morphology	9244	CRLF1	OMIM:272430
HP:0025668	Abnormal neck morphology	64864	RFX7	OMIM:620330
HP:0025668	Abnormal neck morphology	285489	DOK7	OMIM:618389
HP:0025668	Abnormal neck morphology	29895	MYL11	OMIM:619110
HP:0025668	Abnormal neck morphology	6513	SLC2A1	ORPHA:168577
HP:0025668	Abnormal neck morphology	80036	TRPM3	OMIM:620224
HP:0025668	Abnormal neck morphology	4927	NUP88	OMIM:618393
HP:0025668	Abnormal neck morphology	3636	INPPL1	OMIM:258480
HP:0025668	Abnormal neck morphology	3636	INPPL1	ORPHA:3144
HP:0025668	Abnormal neck morphology	203068	TUBB	OMIM:156610
HP:0025668	Abnormal neck morphology	6872	TAF1	OMIM:300966
HP:0025668	Abnormal neck morphology	8567	MADD	OMIM:619004
HP:0025668	Abnormal neck morphology	51715	RAB23	OMIM:201000
HP:0025668	Abnormal neck morphology	23233	EXOC6B	OMIM:618395
HP:0025668	Abnormal neck morphology	2273	FHL1	OMIM:300718
HP:0025668	Abnormal neck morphology	2273	FHL1	OMIM:300696
HP:0025668	Abnormal neck morphology	2273	FHL1	ORPHA:98863
HP:0025668	Abnormal neck morphology	226	ALDOA	OMIM:611881
HP:0025668	Abnormal neck morphology	8450	CUL4B	ORPHA:85293
HP:0025668	Abnormal neck morphology	23169	SLC35D1	OMIM:269250
HP:0025668	Abnormal neck morphology	23169	SLC35D1	ORPHA:3144
HP:0025668	Abnormal neck morphology	84919	PPP1R15B	ORPHA:391408
HP:0025668	Abnormal neck morphology	2799	GNS	OMIM:252940
HP:0025668	Abnormal neck morphology	126792	B3GALT6	OMIM:271640
HP:0025668	Abnormal neck morphology	4081	MAB21L1	ORPHA:495875
HP:0025668	Abnormal neck morphology	84231	TRAF7	OMIM:618164
HP:0025668	Abnormal neck morphology	89970	RSPRY1	ORPHA:457395
HP:0025668	Abnormal neck morphology	89970	RSPRY1	OMIM:616723
HP:0025668	Abnormal neck morphology	51594	NBAS	OMIM:614800
HP:0025668	Abnormal neck morphology	54187	NANS	OMIM:610442
HP:0025668	Abnormal neck morphology	6329	SCN4A	OMIM:620369
HP:0025668	Abnormal neck morphology	4683	NBN	ORPHA:647
HP:0025668	Abnormal neck morphology	7474	WNT5A	OMIM:180700
HP:0025668	Abnormal neck morphology	7474	WNT5A	ORPHA:3107
HP:0025668	Abnormal neck morphology	5727	PTCH1	ORPHA:77301
HP:0025668	Abnormal neck morphology	9897	WASHC5	ORPHA:7
HP:0025668	Abnormal neck morphology	28952	CCDC22	ORPHA:7
HP:0025668	Abnormal neck morphology	57020	VPS35L	ORPHA:7
HP:0025668	Abnormal neck morphology	56896	DPYSL5	ORPHA:7
HP:0025668	Abnormal neck morphology	6913	TBX15	OMIM:260660
HP:0025668	Abnormal neck morphology	6913	TBX15	ORPHA:93333
HP:0025668	Abnormal neck morphology	84842	HPDL	OMIM:619026
HP:0025668	Abnormal neck morphology	8022	LHX3	ORPHA:231720
HP:0025668	Abnormal neck morphology	8022	LHX3	ORPHA:226307
HP:0025668	Abnormal neck morphology	8022	LHX3	OMIM:221750
HP:0025668	Abnormal neck morphology	51109	RDH11	ORPHA:436245
HP:0025668	Abnormal neck morphology	283450	HECTD4	OMIM:620250
HP:0025668	Abnormal neck morphology	8243	SMC1A	OMIM:300590
HP:0025668	Abnormal neck morphology	8243	SMC1A	ORPHA:199
HP:0025668	Abnormal neck morphology	6399	TRAPPC2	ORPHA:93284
HP:0025668	Abnormal neck morphology	6399	TRAPPC2	OMIM:313400
HP:0025668	Abnormal neck morphology	9131	AIFM1	OMIM:300232
HP:0025668	Abnormal neck morphology	324	APC	ORPHA:261584
HP:0025668	Abnormal neck morphology	5393	EXOSC9	OMIM:618065
HP:0025668	Abnormal neck morphology	26128	KIFBP	OMIM:609460
HP:0025668	Abnormal neck morphology	23556	PIGN	ORPHA:2059
HP:0025668	Abnormal neck morphology	23556	PIGN	ORPHA:280633
HP:0025668	Abnormal neck morphology	161742	SPRED1	OMIM:611431
HP:0025668	Abnormal neck morphology	57539	WDR35	OMIM:613610
HP:0025668	Abnormal neck morphology	118429	ANTXR2	ORPHA:2176
HP:0025668	Abnormal neck morphology	1303	COL12A1	ORPHA:75840
HP:0025668	Abnormal neck morphology	1291	COL6A1	ORPHA:75840
HP:0025668	Abnormal neck morphology	1293	COL6A3	ORPHA:75840
HP:0025668	Abnormal neck morphology	58	ACTA1	ORPHA:171436
HP:0025668	Abnormal neck morphology	4703	NEB	ORPHA:171436
HP:0025668	Abnormal neck morphology	10324	KLHL41	ORPHA:171436
HP:0025668	Abnormal neck morphology	56203	LMOD3	ORPHA:171436
HP:0025668	Abnormal neck morphology	1073	CFL2	ORPHA:171436
HP:0025668	Abnormal neck morphology	80055	PGAP1	OMIM:615802
HP:0025668	Abnormal neck morphology	10847	SRCAP	ORPHA:2044
HP:0025668	Abnormal neck morphology	10847	SRCAP	OMIM:136140
HP:0025668	Abnormal neck morphology	1717	DHCR7	ORPHA:818
HP:0025668	Abnormal neck morphology	55780	ERMARD	ORPHA:75857
HP:0025668	Abnormal neck morphology	10978	CLP1	OMIM:615803
HP:0025668	Abnormal neck morphology	26153	KIF26A	OMIM:620156
HP:0025668	Abnormal neck morphology	9382	COG1	OMIM:611209
HP:0025668	Abnormal neck morphology	9382	COG1	ORPHA:263508
HP:0025668	Abnormal neck morphology	84992	PIGY	ORPHA:247262
HP:0025668	Abnormal neck morphology	84992	PIGY	OMIM:616809
HP:0025668	Abnormal neck morphology	84720	PIGO	ORPHA:247262
HP:0025668	Abnormal neck morphology	93210	PGAP3	ORPHA:247262
HP:0025668	Abnormal neck morphology	284098	PIGW	ORPHA:247262
HP:0025668	Abnormal neck morphology	27315	PGAP2	ORPHA:247262
HP:0025668	Abnormal neck morphology	55650	PIGV	ORPHA:247262
HP:0025668	Abnormal neck morphology	3899	AFF3	OMIM:619297
HP:0025668	Abnormal neck morphology	1009	CDH11	ORPHA:1299
HP:0025668	Abnormal neck morphology	79867	TCTN2	OMIM:613885
HP:0025668	Abnormal neck morphology	1302	COL11A2	ORPHA:2021
HP:0025668	Abnormal neck morphology	1302	COL11A2	ORPHA:1427
HP:0025668	Abnormal neck morphology	79053	ALG8	OMIM:608104
HP:0025668	Abnormal neck morphology	3756	KCNH1	ORPHA:3473
HP:0025668	Abnormal neck morphology	3782	KCNN3	ORPHA:3473
HP:0025668	Abnormal neck morphology	3425	IDUA	OMIM:607014
HP:0025668	Abnormal neck morphology	3425	IDUA	OMIM:607016
HP:0025668	Abnormal neck morphology	3425	IDUA	ORPHA:93473
HP:0025668	Abnormal neck morphology	6911	TBX6	OMIM:122600
HP:0025668	Abnormal neck morphology	6911	TBX6	ORPHA:1797
HP:0025668	Abnormal neck morphology	374654	KIF7	OMIM:607131
HP:0025668	Abnormal neck morphology	26227	PHGDH	OMIM:256520
HP:0025668	Abnormal neck morphology	9653	HS2ST1	OMIM:619194
HP:0025668	Abnormal neck morphology	4593	MUSK	OMIM:208150
HP:0025668	Abnormal neck morphology	5626	PROP1	ORPHA:226307
HP:0025668	Abnormal neck morphology	89884	LHX4	ORPHA:226307
HP:0025668	Abnormal neck morphology	5449	POU1F1	ORPHA:226307
HP:0025668	Abnormal neck morphology	8820	HESX1	ORPHA:226307
HP:0025668	Abnormal neck morphology	2535	FZD2	ORPHA:3107
HP:0025668	Abnormal neck morphology	285175	UNC80	OMIM:616801
HP:0025668	Abnormal neck morphology	285175	UNC80	ORPHA:371364
HP:0025668	Abnormal neck morphology	54499	TMCO1	OMIM:213980
HP:0025668	Abnormal neck morphology	54499	TMCO1	ORPHA:1394
HP:0025668	Abnormal neck morphology	11128	POLR3A	OMIM:264090
HP:0025668	Abnormal neck morphology	55165	CEP55	OMIM:236500
HP:0025668	Abnormal neck morphology	157570	ESCO2	ORPHA:3103
HP:0025668	Abnormal neck morphology	157570	ESCO2	OMIM:268300
HP:0025668	Abnormal neck morphology	10236	HNRNPR	OMIM:620073
HP:0025668	Abnormal neck morphology	4089	SMAD4	OMIM:139210
HP:0025668	Abnormal neck morphology	1654	DDX3X	ORPHA:3338
HP:0025668	Abnormal neck morphology	388015	RTL1	ORPHA:96334
HP:0025668	Abnormal neck morphology	8788	DLK1	ORPHA:96334
HP:0025668	Abnormal neck morphology	55384	MEG3	ORPHA:96334
HP:0025668	Abnormal neck morphology	145873	MESP2	OMIM:608681
HP:0025668	Abnormal neck morphology	145873	MESP2	OMIM:277300
HP:0025668	Abnormal neck morphology	145873	MESP2	ORPHA:2311
HP:0025668	Abnormal neck morphology	546	ATRX	OMIM:309580
HP:0025668	Abnormal neck morphology	51322	WAC	OMIM:616708
HP:0025668	Abnormal neck morphology	9321	TRIP11	ORPHA:93299
HP:0025668	Abnormal neck morphology	9321	TRIP11	OMIM:200600
HP:0025668	Abnormal neck morphology	2010	EMD	ORPHA:98863
HP:0025668	Abnormal neck morphology	79158	GNPTAB	ORPHA:423461
HP:0025668	Abnormal neck morphology	701	BUB1B	OMIM:257300
HP:0025668	Abnormal neck morphology	10682	EBP	OMIM:302960
HP:0025668	Abnormal neck morphology	2703	GJA8	OMIM:612474
HP:0025668	Abnormal neck morphology	2702	GJA5	OMIM:612474
HP:0025668	Abnormal neck morphology	51025	PAM16	OMIM:613320
HP:0025668	Abnormal neck morphology	84667	HES7	OMIM:613686
HP:0025668	Abnormal neck morphology	84667	HES7	ORPHA:2311
HP:0025668	Abnormal neck morphology	4352	MPL	ORPHA:3319
HP:0025668	Abnormal neck morphology	7066	THPO	ORPHA:3319
HP:0025668	Abnormal neck morphology	27152	INTU	OMIM:617925
HP:0025668	Abnormal neck morphology	27152	INTU	OMIM:617926
HP:0025668	Abnormal neck morphology	2245	FGD1	ORPHA:915
HP:0025668	Abnormal neck morphology	2245	FGD1	OMIM:305400
HP:0025668	Abnormal neck morphology	90417	KNSTRN	OMIM:613328
HP:0025668	Abnormal neck morphology	5293	PIK3CD	OMIM:613328
HP:0025668	Abnormal neck morphology	6888	TALDO1	OMIM:606003
HP:0025668	Abnormal neck morphology	2261	FGFR3	OMIM:187600
HP:0025668	Abnormal neck morphology	55906	ZC4H2	OMIM:301041
HP:0025668	Abnormal neck morphology	55906	ZC4H2	OMIM:314580
HP:0025668	Abnormal neck morphology	27238	GPKOW	ORPHA:2570
HP:0025668	Abnormal neck morphology	579	NKX3-2	OMIM:613330
HP:0025668	Abnormal neck morphology	100151683	RNU4ATAC	OMIM:210710
HP:0025668	Abnormal neck morphology	100151683	RNU4ATAC	ORPHA:2636
HP:0025668	Abnormal neck morphology	2335	FN1	ORPHA:93315
HP:0025668	Abnormal neck morphology	9759	HDAC4	ORPHA:1001
HP:0025668	Abnormal neck morphology	54361	WNT4	ORPHA:2578
HP:0025668	Abnormal neck morphology	54361	WNT4	ORPHA:247768
HP:0025668	Abnormal neck morphology	6928	HNF1B	ORPHA:2578
HP:0025668	Abnormal neck morphology	4854	NOTCH3	OMIM:130720
HP:0025668	Abnormal neck morphology	4854	NOTCH3	ORPHA:2789
HP:0025668	Abnormal neck morphology	113179	ADAT3	ORPHA:363528
HP:0025668	Abnormal neck morphology	3313	HSPA9	OMIM:616854
HP:0025668	Abnormal neck morphology	91869	RFT1	OMIM:612015
HP:0025668	Abnormal neck morphology	10982	MAPRE2	OMIM:616734
HP:0025668	Abnormal neck morphology	10683	DLL3	OMIM:277300
HP:0025668	Abnormal neck morphology	10683	DLL3	ORPHA:2311
HP:0025668	Abnormal neck morphology	4204	MECP2	OMIM:300055
HP:0025668	Abnormal neck morphology	2068	ERCC2	ORPHA:1466
HP:0025668	Abnormal neck morphology	2067	ERCC1	ORPHA:1466
HP:0025668	Abnormal neck morphology	2074	ERCC6	ORPHA:1466
HP:0025668	Abnormal neck morphology	2073	ERCC5	ORPHA:1466
HP:0025668	Abnormal neck morphology	23511	NUP188	OMIM:618804
HP:0025668	Abnormal neck morphology	134701	RIPPLY2	ORPHA:2311
HP:0025668	Abnormal neck morphology	3955	LFNG	ORPHA:2311
HP:0025668	Abnormal neck morphology	64131	XYLT1	OMIM:615777
HP:0025668	Abnormal neck morphology	64131	XYLT1	ORPHA:1425
HP:0025668	Abnormal neck morphology	10943	MSL3	OMIM:301032
HP:0025668	Abnormal neck morphology	5718	PSMD12	ORPHA:529962
HP:0025668	Abnormal neck morphology	2186	BPTF	ORPHA:529962
HP:0025668	Abnormal neck morphology	84342	COG8	OMIM:611182
HP:0025668	Abnormal neck morphology	55969	RAB5IF	OMIM:616994
HP:0025668	Abnormal neck morphology	6638	SNRPN	ORPHA:177907
HP:0025668	Abnormal neck morphology	29980	DONSON	OMIM:251230
HP:0025668	Abnormal neck morphology	23476	BRD4	ORPHA:199
HP:0025668	Abnormal neck morphology	6878	TAF6	ORPHA:199
HP:0025668	Abnormal neck morphology	5885	RAD21	ORPHA:199
HP:0025668	Abnormal neck morphology	10367	MICU1	OMIM:615673
HP:0025668	Abnormal neck morphology	2588	GALNS	OMIM:253000
HP:0025668	Abnormal neck morphology	1861	TOR1A	OMIM:618947
HP:0025668	Abnormal neck morphology	91461	PKDCC	OMIM:618821
HP:0025668	Abnormal neck morphology	6182	MRPL12	OMIM:618951
HP:0025668	Abnormal neck morphology	1806	DPYD	ORPHA:1675
HP:0025668	Abnormal neck morphology	28957	MRPS28	OMIM:618958
HP:0025668	Abnormal neck morphology	9786	KIAA0586	OMIM:616546
HP:0025668	Abnormal neck morphology	10225	CD96	ORPHA:1308
HP:0025668	Abnormal neck morphology	55790	CSGALNACT1	ORPHA:1425
HP:0025668	Abnormal neck morphology	6910	TBX5	OMIM:142900
HP:0025668	Abnormal neck morphology	83452	RAB33B	OMIM:615222
HP:0025668	Abnormal neck morphology	22861	NLRP1	OMIM:615225
HP:0025668	Abnormal neck morphology	64221	ROBO3	ORPHA:2744
HP:0025668	Abnormal neck morphology	1630	DCC	ORPHA:2744
HP:0025668	Abnormal neck morphology	8925	HERC1	ORPHA:457359
HP:0025668	Abnormal neck morphology	8925	HERC1	OMIM:617011
HP:0025668	Abnormal neck morphology	2138	EYA1	OMIM:166780
HP:0025668	Abnormal neck morphology	538	ATP7A	OMIM:304150
HP:0025668	Abnormal neck morphology	25792	CIZ1	ORPHA:420492
HP:0025668	Abnormal neck morphology	10749	KIF1C	ORPHA:397946
HP:0025668	Abnormal neck morphology	10749	KIF1C	OMIM:611302
HP:0025668	Abnormal neck morphology	2643	GCH1	OMIM:128230
HP:0025668	Abnormal neck morphology	2643	GCH1	ORPHA:98808
HP:0025668	Abnormal neck morphology	2774	GNAL	OMIM:615073
HP:0025668	Abnormal neck morphology	2774	GNAL	ORPHA:329466
HP:0025668	Abnormal neck morphology	1356	CP	OMIM:604290
HP:0025668	Abnormal neck morphology	1356	CP	ORPHA:48818
HP:0025668	Abnormal neck morphology	347733	TUBB2B	ORPHA:45358
HP:0025668	Abnormal neck morphology	401	PHOX2A	ORPHA:45358
HP:0025668	Abnormal neck morphology	10381	TUBB3	ORPHA:45358
HP:0025668	Abnormal neck morphology	10381	TUBB3	ORPHA:300570
HP:0025668	Abnormal neck morphology	84570	COL25A1	ORPHA:45358
HP:0025668	Abnormal neck morphology	478	ATP1A3	OMIM:128235
HP:0025668	Abnormal neck morphology	478	ATP1A3	ORPHA:71517
HP:0025668	Abnormal neck morphology	3208	HPCA	ORPHA:99657
HP:0025668	Abnormal neck morphology	3208	HPCA	OMIM:224500
HP:0025668	Abnormal neck morphology	5575	PRKAR1B	OMIM:619680
HP:0025668	Abnormal neck morphology	55187	VPS13D	OMIM:607317
HP:0025668	Abnormal neck morphology	81790	RNF170	OMIM:619686
HP:0025668	Abnormal neck morphology	387119	CEP85L	OMIM:618873
HP:0025668	Abnormal neck morphology	3781	KCNN2	OMIM:619724
HP:0025668	Abnormal neck morphology	1644	DDC	OMIM:608643
HP:0025668	Abnormal neck morphology	63982	ANO3	ORPHA:420485
HP:0025668	Abnormal neck morphology	63982	ANO3	OMIM:615034
HP:0025668	Abnormal neck morphology	343641	TGM6	OMIM:613908
HP:0025668	Abnormal neck morphology	343641	TGM6	ORPHA:276193
HP:0025668	Abnormal neck morphology	8575	PRKRA	ORPHA:210571
HP:0025668	Abnormal neck morphology	64601	VPS16	OMIM:619291
HP:0025668	Abnormal neck morphology	25953	PNKD	OMIM:118800
HP:0025668	Abnormal neck morphology	25953	PNKD	ORPHA:98810
HP:0025668	Abnormal neck morphology	116228	COX20	OMIM:619054
HP:0025668	Abnormal neck morphology	54834	GDAP2	OMIM:618369
HP:0025668	Abnormal neck morphology	23400	ATP13A2	OMIM:606693
HP:0025668	Abnormal neck morphology	7703	PCGF2	OMIM:618371
HP:0025668	Abnormal neck morphology	773	CACNA1A	ORPHA:97
HP:0025668	Abnormal neck morphology	773	CACNA1A	ORPHA:71518
HP:0025668	Abnormal neck morphology	1813	DRD2	ORPHA:36899
HP:0025668	Abnormal neck morphology	8910	SGCE	ORPHA:36899
HP:0025668	Abnormal neck morphology	8910	SGCE	OMIM:159900
HP:0025668	Abnormal neck morphology	79734	KCTD17	ORPHA:36899
HP:0025668	Abnormal neck morphology	79734	KCTD17	OMIM:616398
HP:0025668	Abnormal neck morphology	84504	NKX6-2	OMIM:617560
HP:0025668	Abnormal neck morphology	10935	PRDX3	OMIM:619862
HP:0025668	Abnormal neck morphology	9757	KMT2B	OMIM:617284
HP:0025668	Abnormal neck morphology	9757	KMT2B	ORPHA:589618
HP:0025668	Abnormal neck morphology	9256	TSPOAP1	OMIM:620456
HP:0025668	Abnormal neck morphology	9256	TSPOAP1	OMIM:620453
HP:0025668	Abnormal neck morphology	112476	PRRT2	ORPHA:98810
HP:0025668	Abnormal neck morphology	1267	CNP	OMIM:619071
HP:0025668	Abnormal neck morphology	8558	CDK10	OMIM:617694
HP:0025668	Abnormal neck morphology	6711	SPTBN1	OMIM:619475
HP:0025668	Abnormal neck morphology	3615	IMPDH2	ORPHA:98808
HP:0025668	Abnormal neck morphology	10382	TUBB4A	ORPHA:98805
HP:0025668	Abnormal neck morphology	10382	TUBB4A	OMIM:128101
HP:0025668	Abnormal neck morphology	7701	ZNF142	OMIM:618425
HP:0025668	Abnormal neck morphology	55145	THAP1	ORPHA:98806
HP:0025668	Abnormal neck morphology	55145	THAP1	OMIM:602629
HP:0025668	Abnormal neck morphology	3098	HK1	OMIM:618547
HP:0025668	Abnormal neck morphology	55823	VPS11	OMIM:619637
HP:0025668	Abnormal neck morphology	3748	KCNC3	ORPHA:98768
HP:0025668	Abnormal neck morphology	93986	FOXP2	ORPHA:251061
HP:0025668	Abnormal neck morphology	11198	SUPT16H	OMIM:619480
HP:0025668	Abnormal neck morphology	78989	COLEC11	OMIM:265050
HP:0025668	Abnormal neck morphology	128240	NAXE	OMIM:617186
HP:0025668	Abnormal neck morphology	4617	MYF5	OMIM:618155
HP:0025668	Abnormal neck morphology	23187	PHLDB1	OMIM:620639
HP:0025668	Abnormal neck morphology	6663	SOX10	OMIM:609136
HP:0025668	Abnormal neck morphology	6908	TBP	ORPHA:98759
HP:0025668	Abnormal neck morphology	2898	GRIK2	OMIM:611092
HP:0025668	Abnormal neck morphology	8831	SYNGAP1	OMIM:612621
HP:0025668	Abnormal neck morphology	256472	TMEM151A	OMIM:620245
HP:0025668	Abnormal neck morphology	3679	ITGA7	OMIM:613204
HP:0025668	Abnormal neck morphology	7042	TGFB2	OMIM:614816
HP:0025668	Abnormal neck morphology	6342	SCP2	OMIM:613724
HP:0025668	Abnormal neck morphology	10128	LRPPRC	OMIM:220111
HP:0025668	Abnormal neck morphology	1317	SLC31A1	OMIM:620306
HP:0025668	Abnormal neck morphology	7355	SLC35A2	ORPHA:356961
HP:0025668	Abnormal neck morphology	57465	TBC1D24	ORPHA:79500
HP:0025668	Abnormal neck morphology	57465	TBC1D24	OMIM:220500
HP:0025668	Abnormal neck morphology	3708	ITPR1	OMIM:117360
HP:0025668	Abnormal neck morphology	139818	DOCK11	OMIM:301109
HP:0025668	Abnormal neck morphology	25978	CHMP2B	ORPHA:275864
HP:0025668	Abnormal neck morphology	25978	CHMP2B	ORPHA:100070
HP:0025668	Abnormal neck morphology	5663	PSEN1	ORPHA:275864
HP:0025668	Abnormal neck morphology	5663	PSEN1	ORPHA:100070
HP:0025668	Abnormal neck morphology	2896	GRN	ORPHA:275864
HP:0025668	Abnormal neck morphology	2896	GRN	ORPHA:100070
HP:0025668	Abnormal neck morphology	54664	TMEM106B	ORPHA:275864
HP:0025668	Abnormal neck morphology	54664	TMEM106B	ORPHA:100070
HP:0025668	Abnormal neck morphology	8878	SQSTM1	ORPHA:275864
HP:0025668	Abnormal neck morphology	4137	MAPT	ORPHA:275864
HP:0025668	Abnormal neck morphology	4137	MAPT	ORPHA:100070
HP:0025668	Abnormal neck morphology	54209	TREM2	ORPHA:275864
HP:0025668	Abnormal neck morphology	54209	TREM2	ORPHA:100070
HP:0025668	Abnormal neck morphology	7415	VCP	ORPHA:275864
HP:0025668	Abnormal neck morphology	7415	VCP	ORPHA:100070
HP:0025668	Abnormal neck morphology	5167	ENPP1	ORPHA:758
HP:0025668	Abnormal neck morphology	368	ABCC6	ORPHA:758
HP:0025668	Abnormal neck morphology	55670	PEX26	ORPHA:912
HP:0025668	Abnormal neck morphology	5824	PEX19	ORPHA:912
HP:0025668	Abnormal neck morphology	5828	PEX2	ORPHA:912
HP:0025668	Abnormal neck morphology	8504	PEX3	ORPHA:912
HP:0025668	Abnormal neck morphology	8799	PEX11B	ORPHA:912
HP:0025668	Abnormal neck morphology	9409	PEX16	ORPHA:912
HP:0025668	Abnormal neck morphology	5190	PEX6	ORPHA:912
HP:0025668	Abnormal neck morphology	5830	PEX5	ORPHA:912
HP:0025668	Abnormal neck morphology	5193	PEX12	ORPHA:912
HP:0025668	Abnormal neck morphology	5194	PEX13	ORPHA:912
HP:0025668	Abnormal neck morphology	5195	PEX14	ORPHA:912
HP:0025668	Abnormal neck morphology	5192	PEX10	ORPHA:912
HP:0025668	Abnormal neck morphology	5913	RAPSN	OMIM:618388
HP:0025668	Abnormal neck morphology	219844	HYLS1	OMIM:236680
HP:0025668	Abnormal neck morphology	6840	SVIL	OMIM:619040
HP:0025668	Abnormal neck morphology	23116	TOGARAM1	OMIM:619185
HP:0025668	Abnormal neck morphology	7750	ZMYM2	OMIM:619522
HP:0025668	Abnormal neck morphology	57647	DHX37	OMIM:618731
HP:0025668	Abnormal neck morphology	7543	ZFX	OMIM:301118
HP:0025668	Abnormal neck morphology	7291	TWIST1	OMIM:617746
HP:0025668	Abnormal neck morphology	55605	KIF21A	ORPHA:994
HP:0025668	Abnormal neck morphology	7846	TUBA1A	ORPHA:994
HP:0025668	Abnormal neck morphology	4654	MYOD1	ORPHA:994
HP:0025668	Abnormal neck morphology	4654	MYOD1	OMIM:618975
HP:0025668	Abnormal neck morphology	54551	MAGEL2	ORPHA:994
HP:0025668	Abnormal neck morphology	6572	SLC18A3	ORPHA:994
HP:0025668	Abnormal neck morphology	2294	FOXF1	OMIM:265380
HP:0025668	Abnormal neck morphology	94005	PIGS	OMIM:618143
HP:0025668	Abnormal neck morphology	3190	HNRNPK	ORPHA:453504
HP:0025668	Abnormal neck morphology	3190	HNRNPK	ORPHA:352665
HP:0025668	Abnormal neck morphology	9578	CDC42BPB	OMIM:619841
HP:0025668	Abnormal neck morphology	55640	FLVCR2	OMIM:225790
HP:0025668	Abnormal neck morphology	112752	IFT43	OMIM:617866
HP:0025668	Abnormal neck morphology	55784	MCTP2	ORPHA:1596
HP:0025668	Abnormal neck morphology	51259	TMEM216	OMIM:603194
HP:0025668	Abnormal neck morphology	3930	LBR	OMIM:215140
HP:0025668	Abnormal neck morphology	1134	CHRNA1	OMIM:253290
HP:0025668	Abnormal neck morphology	1144	CHRND	OMIM:253290
HP:0025668	Abnormal neck morphology	90952	ESAM	OMIM:620371
HP:0025668	Abnormal neck morphology	23129	PLXND1	OMIM:620294
HP:0025668	Abnormal neck morphology	3479	IGF1	ORPHA:73272
HP:0025668	Abnormal neck morphology	79650	USB1	OMIM:604173
HP:0025668	Abnormal neck morphology	3020	H3-3A	OMIM:619720
HP:0025668	Abnormal neck morphology	23030	KDM4B	OMIM:619320
HP:0025668	Abnormal neck morphology	5184	PEPD	OMIM:170100
HP:0025668	Abnormal neck morphology	24142	NAA80	OMIM:620830
HP:0025668	Abnormal neck morphology	25782	RAB3GAP2	OMIM:212720
HP:0025668	Abnormal neck morphology	25782	RAB3GAP2	ORPHA:1387
HP:0025668	Abnormal neck morphology	55777	MBD5	OMIM:156200
HP:0025668	Abnormal neck morphology	10265	IRX5	OMIM:611174
HP:0025668	Abnormal neck morphology	1000	CDH2	OMIM:618929
HP:0025668	Abnormal neck morphology	54872	PIGG	ORPHA:280
HP:0025668	Abnormal neck morphology	7469	NELFA	ORPHA:280
HP:0025668	Abnormal neck morphology	6602	SMARCD1	OMIM:618779
HP:0025668	Abnormal neck morphology	2033	EP300	OMIM:180849
HP:0025668	Abnormal neck morphology	1387	CREBBP	OMIM:180849
HP:0025668	Abnormal neck morphology	29957	SLC25A24	OMIM:612289
HP:0025668	Abnormal neck morphology	79005	SCNM1	OMIM:620107
HP:0025668	Abnormal neck morphology	4784	NFIX	ORPHA:420179
HP:0025668	Abnormal neck morphology	374879	ZNF699	OMIM:619488
HP:0025668	Abnormal neck morphology	4849	CNOT3	OMIM:618672
HP:0025668	Abnormal neck morphology	80267	EDEM3	OMIM:619493
HP:0025668	Abnormal neck morphology	10020	GNE	OMIM:269921
HP:0025668	Abnormal neck morphology	5286	PIK3C2A	OMIM:618440
HP:0025668	Abnormal neck morphology	738	VPS51	OMIM:618606
HP:0025668	Abnormal neck morphology	22930	RAB3GAP1	ORPHA:1387
HP:0025668	Abnormal neck morphology	23133	PHF8	ORPHA:85287
HP:0025668	Abnormal neck morphology	23133	PHF8	OMIM:300263
HP:0025668	Abnormal neck morphology	5468	PPARG	ORPHA:528
HP:0025668	Abnormal neck morphology	10555	AGPAT2	ORPHA:528
HP:0025668	Abnormal neck morphology	284119	CAVIN1	ORPHA:528
HP:0025668	Abnormal neck morphology	26580	BSCL2	ORPHA:528
HP:0025668	Abnormal neck morphology	2353	FOS	ORPHA:528
HP:0025668	Abnormal neck morphology	857	CAV1	ORPHA:528
HP:0025668	Abnormal neck morphology	79087	ALG12	ORPHA:79324
HP:0025668	Abnormal neck morphology	6595	SMARCA2	OMIM:601358
HP:0025668	Abnormal neck morphology	8621	CDK13	OMIM:617360
HP:0025668	Abnormal neck morphology	9181	ARHGEF2	OMIM:617523
HP:0025668	Abnormal neck morphology	10664	CTCF	OMIM:615502
HP:0025668	Abnormal neck morphology	8085	KMT2D	OMIM:147920
HP:0025668	Abnormal neck morphology	7403	KDM6A	OMIM:147920
HP:0025668	Abnormal neck morphology	10075	HUWE1	OMIM:309590
HP:0025668	Abnormal neck morphology	57679	ALS2	OMIM:205100
HP:0025668	Abnormal neck morphology	57679	ALS2	ORPHA:300605
HP:0025668	Abnormal neck morphology	2521	FUS	ORPHA:300605
HP:0025668	Abnormal neck morphology	80208	SPG11	ORPHA:300605
HP:0025668	Abnormal neck morphology	10280	SIGMAR1	ORPHA:300605
HP:0025668	Abnormal neck morphology	10558	SPTLC1	ORPHA:300605
HP:0025668	Abnormal neck morphology	23040	MYT1L	ORPHA:647799
HP:0025668	Abnormal neck morphology	5528	PPP2R5D	OMIM:616355
HP:0025668	Abnormal neck morphology	5528	PPP2R5D	ORPHA:457279
HP:0025668	Abnormal neck morphology	23545	ATP6V0A2	ORPHA:357074
HP:0025668	Abnormal neck morphology	523	ATP6V1A	ORPHA:357074
HP:0025668	Abnormal neck morphology	529	ATP6V1E1	ORPHA:357074
HP:0025668	Abnormal neck morphology	2006	ELN	ORPHA:90348
HP:0025668	Abnormal neck morphology	10516	FBLN5	ORPHA:90348
HP:0025668	Abnormal neck morphology	5832	ALDH18A1	ORPHA:90348
HP:0025668	Abnormal neck morphology	55593	OTUD5	OMIM:301056
HP:0025668	Abnormal neck morphology	9896	FIG4	OMIM:216340
HP:0025668	Abnormal neck morphology	9896	FIG4	ORPHA:3472
HP:0025668	Abnormal neck morphology	56945	MRPS22	OMIM:611719
HP:0025668	Abnormal neck morphology	79848	CSPP1	ORPHA:397715
HP:0025668	Abnormal neck morphology	55697	VAC14	ORPHA:3472
HP:0025668	Abnormal neck morphology	4716	NDUFB10	OMIM:619003
HP:0025668	Abnormal neck morphology	285590	SH3PXD2B	OMIM:249420
HP:0025668	Abnormal neck morphology	22884	WDR37	OMIM:618652
HP:0025668	Abnormal neck morphology	10801	SEPTIN9	ORPHA:2901
HP:0025668	Abnormal neck morphology	2263	FGFR2	OMIM:123790
HP:0025668	Abnormal neck morphology	51021	MRPS16	OMIM:610498
HP:0025668	Abnormal neck morphology	124997	WDR81	OMIM:617967
HP:0025668	Abnormal neck morphology	2683	B4GALT1	ORPHA:79332
HP:0025668	Abnormal neck morphology	5189	PEX1	OMIM:214100
HP:0025668	Abnormal neck morphology	10992	SF3B2	OMIM:164210
HP:0025668	Abnormal neck morphology	147912	SIX5	ORPHA:107
HP:0025668	Abnormal neck morphology	6495	SIX1	ORPHA:107
HP:0025668	Abnormal neck morphology	84172	POLR1B	ORPHA:861
HP:0025668	Abnormal neck morphology	9533	POLR1C	ORPHA:861
HP:0025668	Abnormal neck morphology	51082	POLR1D	ORPHA:861
HP:0025668	Abnormal neck morphology	6949	TCOF1	ORPHA:861
HP:0025668	Abnormal neck morphology	25942	SIN3A	OMIM:613406
HP:0025668	Abnormal neck morphology	613	BCR	ORPHA:261330
HP:0025668	Abnormal neck morphology	1399	CRKL	ORPHA:261330
HP:0025668	Abnormal neck morphology	6134	RPL10	ORPHA:435938
HP:0025668	Abnormal neck morphology	699	BUB1	OMIM:620183
HP:0025668	Abnormal neck morphology	699	BUB1	ORPHA:1052
HP:0025668	Abnormal neck morphology	1725	DHPS	OMIM:618480
HP:0025668	Abnormal neck morphology	104	ADARB1	OMIM:618862
HP:0025668	Abnormal neck morphology	83871	RAB34	OMIM:620718
HP:0025668	Abnormal neck morphology	10274	STAG1	OMIM:617635
HP:0025668	Abnormal neck morphology	6804	STX1A	ORPHA:904
HP:0025668	Abnormal neck morphology	7461	CLIP2	ORPHA:904
HP:0025668	Abnormal neck morphology	84277	DNAJC30	ORPHA:904
HP:0025668	Abnormal neck morphology	8468	FKBP6	ORPHA:904
HP:0025668	Abnormal neck morphology	5982	RFC2	ORPHA:904
HP:0025668	Abnormal neck morphology	2969	GTF2I	ORPHA:904
HP:0025668	Abnormal neck morphology	3984	LIMK1	ORPHA:904
HP:0025668	Abnormal neck morphology	9569	GTF2IRD1	ORPHA:904
HP:0025668	Abnormal neck morphology	155382	VPS37D	ORPHA:904
HP:0025668	Abnormal neck morphology	155368	METTL27	ORPHA:904
HP:0025668	Abnormal neck morphology	114049	BUD23	ORPHA:904
HP:0025668	Abnormal neck morphology	7458	EIF4H	ORPHA:904
HP:0025668	Abnormal neck morphology	84163	GTF2IRD2	ORPHA:904
HP:0025668	Abnormal neck morphology	26608	TBL2	ORPHA:904
HP:0025668	Abnormal neck morphology	653361	NCF1	ORPHA:904
HP:0025668	Abnormal neck morphology	135886	TMEM270	ORPHA:904
HP:0025668	Abnormal neck morphology	9031	BAZ1B	ORPHA:904
HP:0025668	Abnormal neck morphology	415	ARSL	ORPHA:79345
HP:0025668	Abnormal neck morphology	83475	DOHH	OMIM:620066
HP:0025668	Abnormal neck morphology	9184	BUB3	ORPHA:1052
HP:0025668	Abnormal neck morphology	9702	CEP57	ORPHA:1052
HP:0025668	Abnormal neck morphology	9319	TRIP13	ORPHA:1052
HP:0025668	Abnormal neck morphology	2050	EPHB4	OMIM:617300
HP:0025668	Abnormal neck morphology	1822	ATN1	OMIM:618494
HP:0025668	Abnormal neck morphology	4953	ODC1	ORPHA:544488
HP:0025668	Abnormal neck morphology	5908	RAP1B	OMIM:620654
HP:0025668	Abnormal neck morphology	2304	FOXE1	ORPHA:319487
HP:0025668	Abnormal neck morphology	3026	HABP2	ORPHA:319487
HP:0025668	Abnormal neck morphology	9562	MINPP1	ORPHA:319487
HP:0025667	Fetal neck anomaly	10682	EBP	ORPHA:401973
HP:0025667	Fetal neck anomaly	10128	LRPPRC	OMIM:220111
HP:0025667	Fetal neck anomaly	2294	FOXF1	OMIM:265380
HP:0025667	Fetal neck anomaly	1947	EFNB1	ORPHA:1520
HP:0025667	Fetal neck anomaly	23556	PIGN	ORPHA:2059
HP:0025667	Fetal neck anomaly	1317	SLC31A1	OMIM:620306
HP:0025667	Fetal neck anomaly	7355	SLC35A2	ORPHA:356961
HP:0025667	Fetal neck anomaly	526	ATP6V1B2	ORPHA:79500
HP:0025667	Fetal neck anomaly	57465	TBC1D24	ORPHA:79500
HP:0025667	Fetal neck anomaly	57465	TBC1D24	OMIM:220500
HP:0025667	Fetal neck anomaly	79796	ALG9	ORPHA:79328
HP:0025667	Fetal neck anomaly	79796	ALG9	OMIM:263210
HP:0025667	Fetal neck anomaly	3708	ITPR1	OMIM:117360
HP:0025667	Fetal neck anomaly	3911	LAMA5	OMIM:620076
HP:0025667	Fetal neck anomaly	139818	DOCK11	OMIM:301109
HP:0025667	Fetal neck anomaly	3190	HNRNPK	OMIM:616580
HP:0025667	Fetal neck anomaly	84231	TRAF7	OMIM:618164
HP:0025667	Fetal neck anomaly	100151683	RNU4ATAC	ORPHA:2636
HP:0025667	Fetal neck anomaly	1836	SLC26A2	ORPHA:93298
HP:0025667	Fetal neck anomaly	22800	RRAS2	ORPHA:648
HP:0025667	Fetal neck anomaly	867	CBL	ORPHA:648
HP:0025667	Fetal neck anomaly	8216	LZTR1	ORPHA:648
HP:0025667	Fetal neck anomaly	6016	RIT1	ORPHA:648
HP:0025667	Fetal neck anomaly	6237	RRAS	ORPHA:648
HP:0025667	Fetal neck anomaly	5894	RAF1	ORPHA:648
HP:0025667	Fetal neck anomaly	22808	MRAS	ORPHA:648
HP:0025667	Fetal neck anomaly	3845	KRAS	ORPHA:648
HP:0025667	Fetal neck anomaly	200734	SPRED2	ORPHA:648
HP:0025667	Fetal neck anomaly	4893	NRAS	ORPHA:648
HP:0025667	Fetal neck anomaly	6654	SOS1	ORPHA:648
HP:0025667	Fetal neck anomaly	6655	SOS2	ORPHA:648
HP:0025667	Fetal neck anomaly	5781	PTPN11	ORPHA:648
HP:0025667	Fetal neck anomaly	5922	RASA2	ORPHA:648
HP:0025667	Fetal neck anomaly	9321	TRIP11	ORPHA:93299
HP:0025667	Fetal neck anomaly	3265	HRAS	ORPHA:3071
HP:0025667	Fetal neck anomaly	29968	PSAT1	ORPHA:284417
HP:0025667	Fetal neck anomaly	84342	COG8	OMIM:611182
HP:0025667	Fetal neck anomaly	5277	PIGA	OMIM:300868
HP:0025667	Fetal neck anomaly	25978	CHMP2B	ORPHA:275864
HP:0025667	Fetal neck anomaly	25978	CHMP2B	ORPHA:100070
HP:0025667	Fetal neck anomaly	5663	PSEN1	ORPHA:275864
HP:0025667	Fetal neck anomaly	5663	PSEN1	ORPHA:100070
HP:0025667	Fetal neck anomaly	2896	GRN	ORPHA:275864
HP:0025667	Fetal neck anomaly	2896	GRN	ORPHA:100070
HP:0025667	Fetal neck anomaly	54664	TMEM106B	ORPHA:275864
HP:0025667	Fetal neck anomaly	54664	TMEM106B	ORPHA:100070
HP:0025667	Fetal neck anomaly	8878	SQSTM1	ORPHA:275864
HP:0025667	Fetal neck anomaly	4137	MAPT	ORPHA:275864
HP:0025667	Fetal neck anomaly	4137	MAPT	ORPHA:100070
HP:0025667	Fetal neck anomaly	54209	TREM2	ORPHA:275864
HP:0025667	Fetal neck anomaly	54209	TREM2	ORPHA:100070
HP:0025667	Fetal neck anomaly	7415	VCP	ORPHA:275864
HP:0025667	Fetal neck anomaly	7415	VCP	ORPHA:100070
HP:0025667	Fetal neck anomaly	5167	ENPP1	ORPHA:758
HP:0025667	Fetal neck anomaly	368	ABCC6	ORPHA:758
HP:0025667	Fetal neck anomaly	55670	PEX26	ORPHA:912
HP:0025667	Fetal neck anomaly	5824	PEX19	ORPHA:912
HP:0025667	Fetal neck anomaly	5828	PEX2	ORPHA:912
HP:0025667	Fetal neck anomaly	8504	PEX3	ORPHA:912
HP:0025667	Fetal neck anomaly	8799	PEX11B	ORPHA:912
HP:0025667	Fetal neck anomaly	9409	PEX16	ORPHA:912
HP:0025667	Fetal neck anomaly	5190	PEX6	ORPHA:912
HP:0025667	Fetal neck anomaly	5830	PEX5	ORPHA:912
HP:0025667	Fetal neck anomaly	5189	PEX1	ORPHA:912
HP:0025667	Fetal neck anomaly	5193	PEX12	ORPHA:912
HP:0025667	Fetal neck anomaly	5194	PEX13	ORPHA:912
HP:0025667	Fetal neck anomaly	5195	PEX14	ORPHA:912
HP:0025667	Fetal neck anomaly	5192	PEX10	ORPHA:912
HP:0025667	Fetal neck anomaly	26834	RNU4-2	OMIM:620851
HP:0025667	Fetal neck anomaly	3930	LBR	OMIM:215140
HP:0025667	Fetal neck anomaly	23476	BRD4	ORPHA:199
HP:0025667	Fetal neck anomaly	9126	SMC3	ORPHA:199
HP:0025667	Fetal neck anomaly	8243	SMC1A	ORPHA:199
HP:0025667	Fetal neck anomaly	6878	TAF6	ORPHA:199
HP:0025667	Fetal neck anomaly	25836	NIPBL	ORPHA:199
HP:0025667	Fetal neck anomaly	55869	HDAC8	ORPHA:199
HP:0025667	Fetal neck anomaly	5885	RAD21	ORPHA:199
HP:0025667	Fetal neck anomaly	699	BUB1	OMIM:620183
HP:0025667	Fetal neck anomaly	699	BUB1	ORPHA:1052
HP:0025667	Fetal neck anomaly	1725	DHPS	OMIM:618480
HP:0025667	Fetal neck anomaly	104	ADARB1	OMIM:618862
HP:0025667	Fetal neck anomaly	4593	MUSK	OMIM:208150
HP:0025667	Fetal neck anomaly	29895	MYL11	OMIM:619110
HP:0025667	Fetal neck anomaly	83871	RAB34	OMIM:620718
HP:0025667	Fetal neck anomaly	10274	STAG1	OMIM:617635
HP:0025667	Fetal neck anomaly	2261	FGFR3	ORPHA:1860
HP:0025667	Fetal neck anomaly	2261	FGFR3	ORPHA:93274
HP:0025667	Fetal neck anomaly	6804	STX1A	ORPHA:904
HP:0025667	Fetal neck anomaly	7461	CLIP2	ORPHA:904
HP:0025667	Fetal neck anomaly	84277	DNAJC30	ORPHA:904
HP:0025667	Fetal neck anomaly	8468	FKBP6	ORPHA:904
HP:0025667	Fetal neck anomaly	5982	RFC2	ORPHA:904
HP:0025667	Fetal neck anomaly	2969	GTF2I	ORPHA:904
HP:0025667	Fetal neck anomaly	3984	LIMK1	ORPHA:904
HP:0025667	Fetal neck anomaly	9569	GTF2IRD1	ORPHA:904
HP:0025667	Fetal neck anomaly	155382	VPS37D	ORPHA:904
HP:0025667	Fetal neck anomaly	155368	METTL27	ORPHA:904
HP:0025667	Fetal neck anomaly	114049	BUD23	ORPHA:904
HP:0025667	Fetal neck anomaly	7458	EIF4H	ORPHA:904
HP:0025667	Fetal neck anomaly	84163	GTF2IRD2	ORPHA:904
HP:0025667	Fetal neck anomaly	26608	TBL2	ORPHA:904
HP:0025667	Fetal neck anomaly	653361	NCF1	ORPHA:904
HP:0025667	Fetal neck anomaly	135886	TMEM270	ORPHA:904
HP:0025667	Fetal neck anomaly	9031	BAZ1B	ORPHA:904
HP:0025667	Fetal neck anomaly	2006	ELN	ORPHA:904
HP:0025667	Fetal neck anomaly	79770	TXNDC15	OMIM:619879
HP:0025667	Fetal neck anomaly	415	ARSL	ORPHA:79345
HP:0025667	Fetal neck anomaly	83475	DOHH	OMIM:620066
HP:0025667	Fetal neck anomaly	9896	FIG4	ORPHA:3472
HP:0025667	Fetal neck anomaly	55697	VAC14	ORPHA:3472
HP:0025667	Fetal neck anomaly	9184	BUB3	ORPHA:1052
HP:0025667	Fetal neck anomaly	9702	CEP57	ORPHA:1052
HP:0025667	Fetal neck anomaly	9319	TRIP13	ORPHA:1052
HP:0025667	Fetal neck anomaly	701	BUB1B	ORPHA:1052
HP:0025667	Fetal neck anomaly	51741	WWOX	OMIM:616211
HP:0025667	Fetal neck anomaly	2050	EPHB4	OMIM:617300
HP:0025667	Fetal neck anomaly	1822	ATN1	OMIM:618494
HP:0025667	Fetal neck anomaly	55790	CSGALNACT1	OMIM:618870
HP:0025667	Fetal neck anomaly	10082	GPC6	ORPHA:93329
HP:0025667	Fetal neck anomaly	4953	ODC1	ORPHA:544488
HP:0025667	Fetal neck anomaly	5908	RAP1B	OMIM:620654
HP:0025667	Fetal neck anomaly	1717	DHCR7	ORPHA:818
HP:0025667	Fetal neck anomaly	168667	BMPER	OMIM:608022
HP:0025667	Fetal neck anomaly	6925	TCF4	OMIM:610954
HP:0025670	Syntelencephaly	7546	ZIC2	OMIM:609637
HP:0025671	Fetal pericardial effusion	286204	CRB2	OMIM:219730
HP:0025671	Fetal pericardial effusion	29969	MDFIC	OMIM:620014
HP:0025671	Fetal pericardial effusion	23395	LARS2	OMIM:617021
HP:0025671	Fetal pericardial effusion	3190	HNRNPK	OMIM:616580
HP:0025671	Fetal pericardial effusion	55901	THSD1	OMIM:620244
HP:0025671	Fetal pericardial effusion	6007	RHD	OMIM:619462
HP:0025672	Fetal skin edema	56945	MRPS22	OMIM:611719
HP:0025672	Fetal skin edema	79796	ALG9	OMIM:608776
HP:0005345	Abnormal vena cava morphology	128	ADH5	OMIM:619151
HP:0005345	Abnormal vena cava morphology	2294	FOXF1	OMIM:265380
HP:0005345	Abnormal vena cava morphology	7490	WT1	OMIM:608978
HP:0005345	Abnormal vena cava morphology	2033	EP300	OMIM:180849
HP:0005345	Abnormal vena cava morphology	1387	CREBBP	OMIM:180849
HP:0005345	Abnormal vena cava morphology	54916	TMEM260	OMIM:617478
HP:0005345	Abnormal vena cava morphology	4087	SMAD2	OMIM:619657
HP:0005345	Abnormal vena cava morphology	79645	CLXN	OMIM:620642
HP:0005345	Abnormal vena cava morphology	6910	TBX5	OMIM:142900
HP:0005345	Abnormal vena cava morphology	10743	RAI1	ORPHA:477817
HP:0005345	Abnormal vena cava morphology	10847	SRCAP	OMIM:136140
HP:0005345	Abnormal vena cava morphology	10847	SRCAP	ORPHA:2044
HP:0005345	Abnormal vena cava morphology	7547	ZIC3	OMIM:314390
HP:0005345	Abnormal vena cava morphology	2187	FANCB	OMIM:314390
HP:0005345	Abnormal vena cava morphology	55181	SMG8	OMIM:619268
HP:0005345	Abnormal vena cava morphology	374879	ZNF699	OMIM:619488
HP:0005345	Abnormal vena cava morphology	7386	UQCRFS1	OMIM:618775
HP:0005345	Abnormal vena cava morphology	1822	ATN1	OMIM:618494
HP:0005345	Abnormal vena cava morphology	4281	MID1	ORPHA:2745
HP:0005345	Abnormal vena cava morphology	2783	GNB2	OMIM:619503
HP:0005345	Abnormal vena cava morphology	1161	ERCC8	OMIM:216400
HP:0005345	Abnormal vena cava morphology	8241	RBM10	ORPHA:2886
HP:0005345	Abnormal vena cava morphology	7319	UBE2A	ORPHA:163956
HP:0005345	Abnormal vena cava morphology	10283	CWC27	ORPHA:166035
HP:0005345	Abnormal vena cava morphology	54892	NCAPG2	OMIM:618460
HP:0005345	Abnormal vena cava morphology	8772	FADD	OMIM:613759
HP:0005345	Abnormal vena cava morphology	55315	SLC29A3	OMIM:602782
HP:0005345	Abnormal vena cava morphology	81857	MED25	ORPHA:464738
HP:0005345	Abnormal vena cava morphology	100128908	CIROP	OMIM:619702
HP:0005345	Abnormal vena cava morphology	5567	PRKACB	OMIM:619143
HP:0005345	Abnormal vena cava morphology	51780	KDM3B	OMIM:618846
HP:0005345	Abnormal vena cava morphology	93	ACVR2B	OMIM:613751
HP:0005345	Abnormal vena cava morphology	64093	SMOC1	OMIM:206920
HP:0005345	Abnormal vena cava morphology	118856	MMP21	OMIM:616749
HP:0005345	Abnormal vena cava morphology	6899	TBX1	ORPHA:3384
HP:0005345	Abnormal vena cava morphology	137814	NKX2-6	ORPHA:3384
HP:0005345	Abnormal vena cava morphology	23129	PLXND1	ORPHA:3384
HP:0005345	Abnormal vena cava morphology	25981	DNAH1	ORPHA:244
HP:0005345	Abnormal vena cava morphology	115948	ODAD3	ORPHA:244
HP:0005345	Abnormal vena cava morphology	54768	HYDIN	ORPHA:244
HP:0005345	Abnormal vena cava morphology	352909	DNAAF3	ORPHA:244
HP:0005345	Abnormal vena cava morphology	27148	STK36	ORPHA:244
HP:0005345	Abnormal vena cava morphology	51314	NME8	ORPHA:244
HP:0005345	Abnormal vena cava morphology	92749	DRC1	ORPHA:244
HP:0005345	Abnormal vena cava morphology	54970	TTC12	ORPHA:244
HP:0005345	Abnormal vena cava morphology	152110	NEK10	ORPHA:244
HP:0005345	Abnormal vena cava morphology	8481	OFD1	ORPHA:244
HP:0005345	Abnormal vena cava morphology	2302	FOXJ1	ORPHA:244
HP:0005345	Abnormal vena cava morphology	221421	RSPH9	ORPHA:244
HP:0005345	Abnormal vena cava morphology	85478	CCDC65	ORPHA:244
HP:0005345	Abnormal vena cava morphology	55036	CCDC40	ORPHA:244
HP:0005345	Abnormal vena cava morphology	51364	ZMYND10	ORPHA:244
HP:0005345	Abnormal vena cava morphology	64446	DNAI2	ORPHA:244
HP:0005345	Abnormal vena cava morphology	8382	NME5	ORPHA:244
HP:0005345	Abnormal vena cava morphology	6674	SPAG1	ORPHA:244
HP:0005345	Abnormal vena cava morphology	83544	DNAL1	ORPHA:244
HP:0005345	Abnormal vena cava morphology	89765	RSPH1	ORPHA:244
HP:0005345	Abnormal vena cava morphology	83538	ODAD4	ORPHA:244
HP:0005345	Abnormal vena cava morphology	200373	CFAP221	ORPHA:244
HP:0005345	Abnormal vena cava morphology	374407	DNAJB13	ORPHA:244
HP:0005345	Abnormal vena cava morphology	55172	DNAAF2	ORPHA:244
HP:0005345	Abnormal vena cava morphology	161582	DNAAF4	ORPHA:244
HP:0005345	Abnormal vena cava morphology	2622	GAS8	ORPHA:244
HP:0005345	Abnormal vena cava morphology	23639	DNAAF11	ORPHA:244
HP:0005345	Abnormal vena cava morphology	27019	DNAI1	ORPHA:244
HP:0005345	Abnormal vena cava morphology	345895	RSPH4A	ORPHA:244
HP:0005345	Abnormal vena cava morphology	54919	DNAAF5	ORPHA:244
HP:0005345	Abnormal vena cava morphology	6103	RPGR	ORPHA:244
HP:0005345	Abnormal vena cava morphology	85452	CFAP74	ORPHA:244
HP:0005345	Abnormal vena cava morphology	93233	ODAD1	ORPHA:244
HP:0005345	Abnormal vena cava morphology	55130	ODAD2	ORPHA:244
HP:0005345	Abnormal vena cava morphology	1767	DNAH5	ORPHA:244
HP:0005345	Abnormal vena cava morphology	83861	RSPH3	ORPHA:244
HP:0005345	Abnormal vena cava morphology	345643	MCIDAS	ORPHA:244
HP:0005345	Abnormal vena cava morphology	56683	CFAP298	ORPHA:244
HP:0005345	Abnormal vena cava morphology	79925	SPEF2	ORPHA:244
HP:0005345	Abnormal vena cava morphology	10309	CCNO	ORPHA:244
HP:0005345	Abnormal vena cava morphology	115399	LRRC56	ORPHA:244
HP:0005345	Abnormal vena cava morphology	139212	DNAAF6	ORPHA:244
HP:0005345	Abnormal vena cava morphology	123872	DNAAF1	ORPHA:244
HP:0005345	Abnormal vena cava morphology	85016	CFAP300	ORPHA:244
HP:0005345	Abnormal vena cava morphology	339829	CCDC39	ORPHA:244
HP:0005345	Abnormal vena cava morphology	8701	DNAH11	ORPHA:244
HP:0005345	Abnormal vena cava morphology	1770	DNAH9	ORPHA:244
HP:0005345	Abnormal vena cava morphology	246176	GAS2L2	ORPHA:244
HP:0005345	Abnormal vena cava morphology	5580	PRKCD	OMIM:615559
HP:0005345	Abnormal vena cava morphology	8314	BAP1	ORPHA:50251
HP:0005345	Abnormal vena cava morphology	10128	LRPPRC	OMIM:220111
HP:0005345	Abnormal vena cava morphology	55997	CFC1	OMIM:605376
HP:0030972	Abnormal systemic blood pressure	875	CBS	ORPHA:394
HP:0030972	Abnormal systemic blood pressure	63036	CELA2A	OMIM:618620
HP:0030972	Abnormal systemic blood pressure	776	CACNA1D	OMIM:615474
HP:0030972	Abnormal systemic blood pressure	776	CACNA1D	ORPHA:369929
HP:0030972	Abnormal systemic blood pressure	2200	FBN1	ORPHA:1885
HP:0030972	Abnormal systemic blood pressure	2200	FBN1	ORPHA:2833
HP:0030972	Abnormal systemic blood pressure	2200	FBN1	OMIM:616914
HP:0030972	Abnormal systemic blood pressure	2200	FBN1	ORPHA:91387
HP:0030972	Abnormal systemic blood pressure	54507	ADAMTSL4	ORPHA:1885
HP:0030972	Abnormal systemic blood pressure	4010	LMX1B	ORPHA:2613
HP:0030972	Abnormal systemic blood pressure	63924	CIDEC	OMIM:615238
HP:0030972	Abnormal systemic blood pressure	2072	ERCC4	ORPHA:90321
HP:0030972	Abnormal systemic blood pressure	2072	ERCC4	OMIM:610965
HP:0030972	Abnormal systemic blood pressure	23607	CD2AP	OMIM:607832
HP:0030972	Abnormal systemic blood pressure	3162	HMOX1	OMIM:614034
HP:0030972	Abnormal systemic blood pressure	1584	CYP11B1	OMIM:202010
HP:0030972	Abnormal systemic blood pressure	1584	CYP11B1	ORPHA:90795
HP:0030972	Abnormal systemic blood pressure	1584	CYP11B1	ORPHA:403
HP:0030972	Abnormal systemic blood pressure	1584	CYP11B1	OMIM:103900
HP:0030972	Abnormal systemic blood pressure	10686	CLDN16	OMIM:248250
HP:0030972	Abnormal systemic blood pressure	23592	LEMD3	ORPHA:1879
HP:0030972	Abnormal systemic blood pressure	1586	CYP17A1	ORPHA:90793
HP:0030972	Abnormal systemic blood pressure	1586	CYP17A1	OMIM:202110
HP:0030972	Abnormal systemic blood pressure	51816	ADA2	OMIM:182410
HP:0030972	Abnormal systemic blood pressure	51816	ADA2	ORPHA:820
HP:0030972	Abnormal systemic blood pressure	51816	ADA2	OMIM:615688
HP:0030972	Abnormal systemic blood pressure	3190	HNRNPK	OMIM:616580
HP:0030972	Abnormal systemic blood pressure	3423	IDS	ORPHA:217085
HP:0030972	Abnormal systemic blood pressure	3423	IDS	ORPHA:217093
HP:0030972	Abnormal systemic blood pressure	6327	SCN2B	OMIM:615378
HP:0030972	Abnormal systemic blood pressure	6773	STAT2	OMIM:618886
HP:0030972	Abnormal systemic blood pressure	84100	ARL6	OMIM:209900
HP:0030972	Abnormal systemic blood pressure	84100	ARL6	ORPHA:110
HP:0030972	Abnormal systemic blood pressure	79140	CCDC28B	OMIM:209900
HP:0030972	Abnormal systemic blood pressure	582	BBS1	OMIM:209900
HP:0030972	Abnormal systemic blood pressure	582	BBS1	ORPHA:110
HP:0030972	Abnormal systemic blood pressure	79184	BRCC3	ORPHA:280679
HP:0030972	Abnormal systemic blood pressure	84133	ZNRF3	ORPHA:1501
HP:0030972	Abnormal systemic blood pressure	7157	TP53	ORPHA:1501
HP:0030972	Abnormal systemic blood pressure	7157	TP53	ORPHA:96253
HP:0030972	Abnormal systemic blood pressure	5573	PRKAR1A	ORPHA:1501
HP:0030972	Abnormal systemic blood pressure	5573	PRKAR1A	OMIM:610489
HP:0030972	Abnormal systemic blood pressure	5573	PRKAR1A	ORPHA:1359
HP:0030972	Abnormal systemic blood pressure	1499	CTNNB1	ORPHA:1501
HP:0030972	Abnormal systemic blood pressure	1029	CDKN2A	ORPHA:1501
HP:0030972	Abnormal systemic blood pressure	7015	TERT	ORPHA:1501
HP:0030972	Abnormal systemic blood pressure	1181	CLCN2	OMIM:605635
HP:0030972	Abnormal systemic blood pressure	1181	CLCN2	ORPHA:404
HP:0030972	Abnormal systemic blood pressure	4313	MMP2	ORPHA:371428
HP:0030972	Abnormal systemic blood pressure	4323	MMP14	ORPHA:371428
HP:0030972	Abnormal systemic blood pressure	5139	PDE3A	OMIM:112410
HP:0030972	Abnormal systemic blood pressure	5139	PDE3A	ORPHA:1276
HP:0030972	Abnormal systemic blood pressure	1281	COL3A1	ORPHA:286
HP:0030972	Abnormal systemic blood pressure	1281	COL3A1	ORPHA:231160
HP:0030972	Abnormal systemic blood pressure	54968	TMEM70	OMIM:614052
HP:0030972	Abnormal systemic blood pressure	5979	RET	OMIM:171400
HP:0030972	Abnormal systemic blood pressure	9860	LRIG2	ORPHA:2704
HP:0030972	Abnormal systemic blood pressure	60495	HPSE2	ORPHA:2704
HP:0030972	Abnormal systemic blood pressure	595	CCND1	OMIM:193300
HP:0030972	Abnormal systemic blood pressure	595	CCND1	ORPHA:892
HP:0030972	Abnormal systemic blood pressure	10699	CORIN	OMIM:620734
HP:0030972	Abnormal systemic blood pressure	10699	CORIN	ORPHA:275555
HP:0030972	Abnormal systemic blood pressure	54	ACP5	ORPHA:1855
HP:0030972	Abnormal systemic blood pressure	10019	SH2B3	OMIM:133100
HP:0030972	Abnormal systemic blood pressure	3717	JAK2	OMIM:133100
HP:0030972	Abnormal systemic blood pressure	3717	JAK2	ORPHA:729
HP:0030972	Abnormal systemic blood pressure	2057	EPOR	OMIM:133100
HP:0030972	Abnormal systemic blood pressure	9056	SLC7A7	ORPHA:470
HP:0030972	Abnormal systemic blood pressure	92482	BBIP1	ORPHA:110
HP:0030972	Abnormal systemic blood pressure	80184	CEP290	ORPHA:110
HP:0030972	Abnormal systemic blood pressure	80184	CEP290	ORPHA:3156
HP:0030972	Abnormal systemic blood pressure	11020	IFT27	ORPHA:110
HP:0030972	Abnormal systemic blood pressure	49855	SCAPER	ORPHA:110
HP:0030972	Abnormal systemic blood pressure	4867	NPHP1	ORPHA:110
HP:0030972	Abnormal systemic blood pressure	4867	NPHP1	ORPHA:3156
HP:0030972	Abnormal systemic blood pressure	4867	NPHP1	OMIM:256100
HP:0030972	Abnormal systemic blood pressure	51057	WDPCP	ORPHA:110
HP:0030972	Abnormal systemic blood pressure	132320	SCLT1	ORPHA:110
HP:0030972	Abnormal systemic blood pressure	27241	BBS9	ORPHA:110
HP:0030972	Abnormal systemic blood pressure	84984	CEP19	ORPHA:110
HP:0030972	Abnormal systemic blood pressure	84984	CEP19	OMIM:615703
HP:0030972	Abnormal systemic blood pressure	22954	TRIM32	ORPHA:110
HP:0030972	Abnormal systemic blood pressure	54903	MKS1	ORPHA:110
HP:0030972	Abnormal systemic blood pressure	79738	BBS10	ORPHA:110
HP:0030972	Abnormal systemic blood pressure	123016	TTC8	ORPHA:110
HP:0030972	Abnormal systemic blood pressure	26160	IFT172	ORPHA:110
HP:0030972	Abnormal systemic blood pressure	583	BBS2	ORPHA:110
HP:0030972	Abnormal systemic blood pressure	583	BBS2	OMIM:615981
HP:0030972	Abnormal systemic blood pressure	585	BBS4	ORPHA:110
HP:0030972	Abnormal systemic blood pressure	8195	MKKS	ORPHA:110
HP:0030972	Abnormal systemic blood pressure	54585	LZTFL1	ORPHA:110
HP:0030972	Abnormal systemic blood pressure	55212	BBS7	ORPHA:110
HP:0030972	Abnormal systemic blood pressure	166379	BBS12	ORPHA:110
HP:0030972	Abnormal systemic blood pressure	10806	SDCCAG8	ORPHA:110
HP:0030972	Abnormal systemic blood pressure	10806	SDCCAG8	ORPHA:3156
HP:0030972	Abnormal systemic blood pressure	157657	CFAP418	ORPHA:110
HP:0030972	Abnormal systemic blood pressure	129880	BBS5	ORPHA:110
HP:0030972	Abnormal systemic blood pressure	80173	IFT74	ORPHA:110
HP:0030972	Abnormal systemic blood pressure	5311	PKD2	OMIM:613095
HP:0030972	Abnormal systemic blood pressure	5311	PKD2	ORPHA:730
HP:0030972	Abnormal systemic blood pressure	5314	PKHD1	OMIM:263200
HP:0030972	Abnormal systemic blood pressure	5314	PKHD1	ORPHA:731
HP:0030972	Abnormal systemic blood pressure	9681	DEPDC5	OMIM:620504
HP:0030972	Abnormal systemic blood pressure	8364	H4C3	OMIM:619758
HP:0030972	Abnormal systemic blood pressure	7490	WT1	ORPHA:347
HP:0030972	Abnormal systemic blood pressure	7490	WT1	ORPHA:220
HP:0030972	Abnormal systemic blood pressure	7490	WT1	ORPHA:654
HP:0030972	Abnormal systemic blood pressure	7490	WT1	OMIM:194080
HP:0030972	Abnormal systemic blood pressure	4040	LRP6	OMIM:610947
HP:0030972	Abnormal systemic blood pressure	5621	PRNP	ORPHA:466
HP:0030972	Abnormal systemic blood pressure	5346	PLIN1	ORPHA:280356
HP:0030972	Abnormal systemic blood pressure	5346	PLIN1	OMIM:613877
HP:0030972	Abnormal systemic blood pressure	5244	ABCB4	ORPHA:69663
HP:0030972	Abnormal systemic blood pressure	3913	LAMB2	OMIM:614199
HP:0030972	Abnormal systemic blood pressure	3913	LAMB2	OMIM:609049
HP:0030972	Abnormal systemic blood pressure	50485	SMARCAL1	ORPHA:1830
HP:0030972	Abnormal systemic blood pressure	50485	SMARCAL1	OMIM:242900
HP:0030972	Abnormal systemic blood pressure	4982	TNFRSF11B	ORPHA:2801
HP:0030972	Abnormal systemic blood pressure	8792	TNFRSF11A	ORPHA:2801
HP:0030972	Abnormal systemic blood pressure	79798	ARMC5	ORPHA:189427
HP:0030972	Abnormal systemic blood pressure	79798	ARMC5	OMIM:615954
HP:0030972	Abnormal systemic blood pressure	23028	KDM1A	ORPHA:189427
HP:0030972	Abnormal systemic blood pressure	2778	GNAS	ORPHA:189427
HP:0030972	Abnormal systemic blood pressure	2778	GNAS	ORPHA:79443
HP:0030972	Abnormal systemic blood pressure	2778	GNAS	OMIM:219080
HP:0030972	Abnormal systemic blood pressure	2263	FGFR2	OMIM:123790
HP:0030972	Abnormal systemic blood pressure	2263	FGFR2	ORPHA:87
HP:0030972	Abnormal systemic blood pressure	2263	FGFR2	ORPHA:1555
HP:0030972	Abnormal systemic blood pressure	4851	NOTCH1	ORPHA:402075
HP:0030972	Abnormal systemic blood pressure	1482	NKX2-5	ORPHA:402075
HP:0030972	Abnormal systemic blood pressure	140628	GATA5	ORPHA:402075
HP:0030972	Abnormal systemic blood pressure	4091	SMAD6	ORPHA:402075
HP:0030972	Abnormal systemic blood pressure	9968	MED12	OMIM:301068
HP:0030972	Abnormal systemic blood pressure	4854	NOTCH3	ORPHA:136
HP:0030972	Abnormal systemic blood pressure	4193	MDM2	OMIM:618681
HP:0030972	Abnormal systemic blood pressure	10463	SLC30A9	OMIM:617595
HP:0030972	Abnormal systemic blood pressure	64127	NOD2	ORPHA:90340
HP:0030972	Abnormal systemic blood pressure	64127	NOD2	OMIM:186580
HP:0030972	Abnormal systemic blood pressure	9742	IFT140	OMIM:266920
HP:0030972	Abnormal systemic blood pressure	9742	IFT140	ORPHA:730
HP:0030972	Abnormal systemic blood pressure	5310	PKD1	OMIM:173900
HP:0030972	Abnormal systemic blood pressure	5310	PKD1	ORPHA:730
HP:0030972	Abnormal systemic blood pressure	4069	LYZ	OMIM:620658
HP:0030972	Abnormal systemic blood pressure	335	APOA1	OMIM:620657
HP:0030972	Abnormal systemic blood pressure	3762	KCNJ5	ORPHA:251274
HP:0030972	Abnormal systemic blood pressure	3762	KCNJ5	OMIM:613677
HP:0030972	Abnormal systemic blood pressure	435	ASL	ORPHA:23
HP:0030972	Abnormal systemic blood pressure	94	ACVRL1	OMIM:600376
HP:0030972	Abnormal systemic blood pressure	5076	PAX2	ORPHA:97362
HP:0030972	Abnormal systemic blood pressure	5076	PAX2	OMIM:120330
HP:0030972	Abnormal systemic blood pressure	5087	PBX1	ORPHA:97362
HP:0030972	Abnormal systemic blood pressure	286053	NSMCE2	OMIM:617253
HP:0030972	Abnormal systemic blood pressure	8402	SLC25A11	OMIM:618464
HP:0030972	Abnormal systemic blood pressure	3875	KRT18	OMIM:215600
HP:0030972	Abnormal systemic blood pressure	629	CFB	OMIM:612924
HP:0030972	Abnormal systemic blood pressure	7056	THBD	OMIM:612926
HP:0030972	Abnormal systemic blood pressure	2908	NR3C1	ORPHA:786
HP:0030972	Abnormal systemic blood pressure	2908	NR3C1	ORPHA:96253
HP:0030972	Abnormal systemic blood pressure	2908	NR3C1	OMIM:615962
HP:0030972	Abnormal systemic blood pressure	718	C3	OMIM:612925
HP:0030972	Abnormal systemic blood pressure	23395	LARS2	OMIM:617021
HP:0030972	Abnormal systemic blood pressure	6340	SCNN1G	OMIM:618114
HP:0030972	Abnormal systemic blood pressure	6340	SCNN1G	ORPHA:526
HP:0030972	Abnormal systemic blood pressure	8912	CACNA1H	OMIM:617027
HP:0030972	Abnormal systemic blood pressure	150	ADRA2A	OMIM:620679
HP:0030972	Abnormal systemic blood pressure	5978	REST	ORPHA:654
HP:0030972	Abnormal systemic blood pressure	129563	DIS3L2	ORPHA:654
HP:0030972	Abnormal systemic blood pressure	675	BRCA2	ORPHA:654
HP:0030972	Abnormal systemic blood pressure	9319	TRIP13	ORPHA:654
HP:0030972	Abnormal systemic blood pressure	10155	TRIM28	ORPHA:654
HP:0030972	Abnormal systemic blood pressure	11281	POU6F2	ORPHA:654
HP:0030972	Abnormal systemic blood pressure	2719	GPC3	ORPHA:654
HP:0030972	Abnormal systemic blood pressure	283120	H19	ORPHA:654
HP:0030972	Abnormal systemic blood pressure	2215	FCGR3B	ORPHA:536
HP:0030972	Abnormal systemic blood pressure	6775	STAT4	ORPHA:536
HP:0030972	Abnormal systemic blood pressure	3684	ITGAM	ORPHA:536
HP:0030972	Abnormal systemic blood pressure	3586	IL10	ORPHA:536
HP:0030972	Abnormal systemic blood pressure	221895	JAZF1	ORPHA:536
HP:0030972	Abnormal systemic blood pressure	11277	TREX1	ORPHA:536
HP:0030972	Abnormal systemic blood pressure	11277	TREX1	ORPHA:247691
HP:0030972	Abnormal systemic blood pressure	7292	TNFSF4	ORPHA:536
HP:0030972	Abnormal systemic blood pressure	7292	TNFSF4	ORPHA:2073
HP:0030972	Abnormal systemic blood pressure	640	BLK	ORPHA:536
HP:0030972	Abnormal systemic blood pressure	720	C4A	ORPHA:536
HP:0030972	Abnormal systemic blood pressure	55024	BANK1	ORPHA:536
HP:0030972	Abnormal systemic blood pressure	3500	IGHG1	ORPHA:536
HP:0030972	Abnormal systemic blood pressure	3654	IRAK1	ORPHA:536
HP:0030972	Abnormal systemic blood pressure	1493	CTLA4	ORPHA:536
HP:0030972	Abnormal systemic blood pressure	1493	CTLA4	ORPHA:900
HP:0030972	Abnormal systemic blood pressure	26191	PTPN22	ORPHA:536
HP:0030972	Abnormal systemic blood pressure	26191	PTPN22	ORPHA:900
HP:0030972	Abnormal systemic blood pressure	1380	CR2	ORPHA:536
HP:0030972	Abnormal systemic blood pressure	5133	PDCD1	ORPHA:536
HP:0030972	Abnormal systemic blood pressure	2113	ETS1	ORPHA:536
HP:0030972	Abnormal systemic blood pressure	2213	FCGR2B	ORPHA:536
HP:0030972	Abnormal systemic blood pressure	10318	TNIP1	ORPHA:536
HP:0030972	Abnormal systemic blood pressure	7332	UBE2L3	ORPHA:536
HP:0030972	Abnormal systemic blood pressure	79932	KIAA0319L	ORPHA:536
HP:0030972	Abnormal systemic blood pressure	4204	MECP2	ORPHA:536
HP:0030972	Abnormal systemic blood pressure	3123	HLA-DRB1	ORPHA:536
HP:0030972	Abnormal systemic blood pressure	3123	HLA-DRB1	ORPHA:2073
HP:0030972	Abnormal systemic blood pressure	721	C4B	ORPHA:536
HP:0030972	Abnormal systemic blood pressure	1773	DNASE1	ORPHA:536
HP:0030972	Abnormal systemic blood pressure	51284	TLR7	ORPHA:536
HP:0030972	Abnormal systemic blood pressure	6696	SPP1	ORPHA:536
HP:0030972	Abnormal systemic blood pressure	54899	PXK	ORPHA:536
HP:0030972	Abnormal systemic blood pressure	7128	TNFAIP3	ORPHA:536
HP:0030972	Abnormal systemic blood pressure	3949	LDLR	ORPHA:391665
HP:0030972	Abnormal systemic blood pressure	255738	PCSK9	ORPHA:391665
HP:0030972	Abnormal systemic blood pressure	26119	LDLRAP1	ORPHA:391665
HP:0030972	Abnormal systemic blood pressure	338	APOB	ORPHA:391665
HP:0030972	Abnormal systemic blood pressure	64240	ABCG5	ORPHA:391665
HP:0030972	Abnormal systemic blood pressure	64241	ABCG8	ORPHA:391665
HP:0030972	Abnormal systemic blood pressure	4784	NFIX	OMIM:602535
HP:0030972	Abnormal systemic blood pressure	84196	USP48	ORPHA:96253
HP:0030972	Abnormal systemic blood pressure	9101	USP8	ORPHA:96253
HP:0030972	Abnormal systemic blood pressure	9101	USP8	OMIM:219090
HP:0030972	Abnormal systemic blood pressure	673	BRAF	ORPHA:96253
HP:0030972	Abnormal systemic blood pressure	1956	EGFR	OMIM:616069
HP:0030972	Abnormal systemic blood pressure	50619	DEF6	OMIM:619573
HP:0030972	Abnormal systemic blood pressure	11145	PLAAT3	OMIM:620683
HP:0030972	Abnormal systemic blood pressure	2717	GLA	ORPHA:324
HP:0030972	Abnormal systemic blood pressure	2717	GLA	OMIM:301500
HP:0030972	Abnormal systemic blood pressure	5277	PIGA	ORPHA:447
HP:0030972	Abnormal systemic blood pressure	3291	HSD11B2	ORPHA:320
HP:0030972	Abnormal systemic blood pressure	3291	HSD11B2	OMIM:218030
HP:0030972	Abnormal systemic blood pressure	2006	ELN	ORPHA:3193
HP:0030972	Abnormal systemic blood pressure	2006	ELN	ORPHA:904
HP:0030972	Abnormal systemic blood pressure	2006	ELN	OMIM:194050
HP:0030972	Abnormal systemic blood pressure	2006	ELN	ORPHA:91387
HP:0030972	Abnormal systemic blood pressure	4763	NF1	ORPHA:97685
HP:0030972	Abnormal systemic blood pressure	4763	NF1	OMIM:162200
HP:0030972	Abnormal systemic blood pressure	7225	TRPC6	OMIM:603965
HP:0030972	Abnormal systemic blood pressure	57545	CC2D2A	OMIM:619111
HP:0030972	Abnormal systemic blood pressure	29927	SEC61A1	OMIM:617056
HP:0030972	Abnormal systemic blood pressure	1286	COL4A4	OMIM:203780
HP:0030972	Abnormal systemic blood pressure	57514	ARHGAP31	OMIM:100300
HP:0030972	Abnormal systemic blood pressure	2335	FN1	ORPHA:84090
HP:0030972	Abnormal systemic blood pressure	2335	FN1	OMIM:601894
HP:0030972	Abnormal systemic blood pressure	2132	EXT2	ORPHA:52022
HP:0030972	Abnormal systemic blood pressure	60529	ALX4	ORPHA:52022
HP:0030972	Abnormal systemic blood pressure	51317	PHF21A	ORPHA:52022
HP:0030972	Abnormal systemic blood pressure	4000	LMNA	ORPHA:740
HP:0030972	Abnormal systemic blood pressure	4000	LMNA	ORPHA:79084
HP:0030972	Abnormal systemic blood pressure	4000	LMNA	OMIM:151660
HP:0030972	Abnormal systemic blood pressure	4000	LMNA	ORPHA:79474
HP:0030972	Abnormal systemic blood pressure	4000	LMNA	ORPHA:363618
HP:0030972	Abnormal systemic blood pressure	10269	ZMPSTE24	ORPHA:740
HP:0030972	Abnormal systemic blood pressure	51360	MBTPS2	OMIM:308205
HP:0030972	Abnormal systemic blood pressure	2629	GBA1	OMIM:230800
HP:0030972	Abnormal systemic blood pressure	64131	XYLT1	OMIM:264800
HP:0030972	Abnormal systemic blood pressure	64132	XYLT2	OMIM:264800
HP:0030972	Abnormal systemic blood pressure	368	ABCC6	OMIM:264800
HP:0030972	Abnormal systemic blood pressure	368	ABCC6	ORPHA:758
HP:0030972	Abnormal systemic blood pressure	368	ABCC6	ORPHA:51608
HP:0030972	Abnormal systemic blood pressure	368	ABCC6	OMIM:614473
HP:0030972	Abnormal systemic blood pressure	51473	DCDC2	ORPHA:84081
HP:0030972	Abnormal systemic blood pressure	91147	TMEM67	ORPHA:84081
HP:0030972	Abnormal systemic blood pressure	91147	TMEM67	OMIM:216360
HP:0030972	Abnormal systemic blood pressure	3145	HMBS	OMIM:176000
HP:0030972	Abnormal systemic blood pressure	3145	HMBS	ORPHA:79276
HP:0030972	Abnormal systemic blood pressure	199221	DZIP1L	ORPHA:731
HP:0030972	Abnormal systemic blood pressure	199221	DZIP1L	OMIM:617610
HP:0030972	Abnormal systemic blood pressure	353	APRT	ORPHA:976
HP:0030972	Abnormal systemic blood pressure	1027	CDKN1B	ORPHA:652
HP:0030972	Abnormal systemic blood pressure	1026	CDKN1A	ORPHA:652
HP:0030972	Abnormal systemic blood pressure	1030	CDKN2B	ORPHA:652
HP:0030972	Abnormal systemic blood pressure	1031	CDKN2C	ORPHA:652
HP:0030972	Abnormal systemic blood pressure	4256	MGP	OMIM:245150
HP:0030972	Abnormal systemic blood pressure	1512	CTSH	ORPHA:2073
HP:0030972	Abnormal systemic blood pressure	5032	P2RY11	ORPHA:2073
HP:0030972	Abnormal systemic blood pressure	4340	MOG	ORPHA:2073
HP:0030972	Abnormal systemic blood pressure	3119	HLA-DQB1	ORPHA:2073
HP:0030972	Abnormal systemic blood pressure	3060	HCRT	ORPHA:2073
HP:0030972	Abnormal systemic blood pressure	22891	ZNF365	ORPHA:2073
HP:0030972	Abnormal systemic blood pressure	59	ACTA2	OMIM:613834
HP:0030972	Abnormal systemic blood pressure	59	ACTA2	ORPHA:91387
HP:0030972	Abnormal systemic blood pressure	4853	NOTCH2	OMIM:610205
HP:0030972	Abnormal systemic blood pressure	1371	CPOX	OMIM:121300
HP:0030972	Abnormal systemic blood pressure	23193	GANAB	OMIM:600666
HP:0030972	Abnormal systemic blood pressure	23193	GANAB	ORPHA:730
HP:0030972	Abnormal systemic blood pressure	8516	ITGA8	OMIM:191830
HP:0030972	Abnormal systemic blood pressure	5167	ENPP1	ORPHA:758
HP:0030972	Abnormal systemic blood pressure	5167	ENPP1	OMIM:208000
HP:0030972	Abnormal systemic blood pressure	5167	ENPP1	ORPHA:51608
HP:0030972	Abnormal systemic blood pressure	9935	MAFB	OMIM:166300
HP:0030972	Abnormal systemic blood pressure	26146	TRAF3IP1	ORPHA:3156
HP:0030972	Abnormal systemic blood pressure	9657	IQCB1	ORPHA:3156
HP:0030972	Abnormal systemic blood pressure	27130	INVS	ORPHA:3156
HP:0030972	Abnormal systemic blood pressure	27130	INVS	OMIM:602088
HP:0030972	Abnormal systemic blood pressure	261734	NPHP4	ORPHA:3156
HP:0030972	Abnormal systemic blood pressure	57728	WDR19	ORPHA:3156
HP:0030972	Abnormal systemic blood pressure	27031	NPHP3	ORPHA:3156
HP:0030972	Abnormal systemic blood pressure	22897	CEP164	ORPHA:3156
HP:0030972	Abnormal systemic blood pressure	4613	MYCN	ORPHA:635
HP:0030972	Abnormal systemic blood pressure	238	ALK	ORPHA:635
HP:0030972	Abnormal systemic blood pressure	389421	LIN28B	ORPHA:635
HP:0030972	Abnormal systemic blood pressure	4004	LMO1	ORPHA:635
HP:0030972	Abnormal systemic blood pressure	57531	HACE1	ORPHA:635
HP:0030972	Abnormal systemic blood pressure	8929	PHOX2B	ORPHA:635
HP:0030972	Abnormal systemic blood pressure	51726	DNAJB11	OMIM:618061
HP:0030972	Abnormal systemic blood pressure	51726	DNAJB11	ORPHA:730
HP:0030972	Abnormal systemic blood pressure	10128	LRPPRC	OMIM:220111
HP:0030972	Abnormal systemic blood pressure	57539	WDR35	OMIM:613610
HP:0030972	Abnormal systemic blood pressure	123263	MTFMT	OMIM:614947
HP:0030972	Abnormal systemic blood pressure	2542	SLC37A4	OMIM:232220
HP:0030972	Abnormal systemic blood pressure	2542	SLC37A4	OMIM:232240
HP:0030972	Abnormal systemic blood pressure	2542	SLC37A4	ORPHA:79259
HP:0030972	Abnormal systemic blood pressure	81839	VANGL1	ORPHA:3027
HP:0030972	Abnormal systemic blood pressure	80199	FUZ	ORPHA:3027
HP:0030972	Abnormal systemic blood pressure	55806	HR	ORPHA:701
HP:0030972	Abnormal systemic blood pressure	5447	POR	ORPHA:95699
HP:0030972	Abnormal systemic blood pressure	5447	POR	OMIM:201750
HP:0030972	Abnormal systemic blood pressure	4552	MTRR	ORPHA:2169
HP:0030972	Abnormal systemic blood pressure	55249	YY1AP1	ORPHA:79094
HP:0030972	Abnormal systemic blood pressure	50940	PDE11A	OMIM:610475
HP:0030972	Abnormal systemic blood pressure	50940	PDE11A	ORPHA:1359
HP:0030972	Abnormal systemic blood pressure	29880	ALG5	ORPHA:730
HP:0030972	Abnormal systemic blood pressure	29880	ALG5	OMIM:620056
HP:0030972	Abnormal systemic blood pressure	79796	ALG9	ORPHA:730
HP:0030972	Abnormal systemic blood pressure	80114	BICC1	ORPHA:730
HP:0030972	Abnormal systemic blood pressure	4574	MT-TS1	OMIM:540000
HP:0030972	Abnormal systemic blood pressure	4575	MT-TS2	OMIM:540000
HP:0030972	Abnormal systemic blood pressure	4535	MT-ND1	OMIM:540000
HP:0030972	Abnormal systemic blood pressure	4567	MT-TL1	OMIM:540000
HP:0030972	Abnormal systemic blood pressure	4512	MT-CO1	OMIM:540000
HP:0030972	Abnormal systemic blood pressure	4513	MT-CO2	OMIM:540000
HP:0030972	Abnormal systemic blood pressure	4514	MT-CO3	OMIM:540000
HP:0030972	Abnormal systemic blood pressure	4519	MT-CYB	OMIM:540000
HP:0030972	Abnormal systemic blood pressure	4511	MT-TC	OMIM:540000
HP:0030972	Abnormal systemic blood pressure	4572	MT-TQ	OMIM:540000
HP:0030972	Abnormal systemic blood pressure	4577	MT-TV	OMIM:540000
HP:0030972	Abnormal systemic blood pressure	4578	MT-TW	OMIM:540000
HP:0030972	Abnormal systemic blood pressure	4558	MT-TF	OMIM:540000
HP:0030972	Abnormal systemic blood pressure	4566	MT-TK	OMIM:540000
HP:0030972	Abnormal systemic blood pressure	4566	MT-TK	ORPHA:1349
HP:0030972	Abnormal systemic blood pressure	4540	MT-ND5	OMIM:540000
HP:0030972	Abnormal systemic blood pressure	4541	MT-ND6	OMIM:540000
HP:0030972	Abnormal systemic blood pressure	3043	HBB	OMIM:603903
HP:0030972	Abnormal systemic blood pressure	3766	KCNJ10	OMIM:612780
HP:0030972	Abnormal systemic blood pressure	1889	ECE1	OMIM:613870
HP:0030972	Abnormal systemic blood pressure	2538	G6PC1	OMIM:232200
HP:0030972	Abnormal systemic blood pressure	284252	KCTD1	ORPHA:2036
HP:0030972	Abnormal systemic blood pressure	284252	KCTD1	OMIM:181270
HP:0030972	Abnormal systemic blood pressure	5468	PPARG	ORPHA:79083
HP:0030972	Abnormal systemic blood pressure	5468	PPARG	OMIM:604367
HP:0030972	Abnormal systemic blood pressure	9149	DYRK1B	OMIM:615812
HP:0030972	Abnormal systemic blood pressure	7840	ALMS1	OMIM:203800
HP:0030972	Abnormal systemic blood pressure	7840	ALMS1	ORPHA:64
HP:0030972	Abnormal systemic blood pressure	83550	GPR101	ORPHA:963
HP:0030972	Abnormal systemic blood pressure	1717	DHCR7	OMIM:270400
HP:0030972	Abnormal systemic blood pressure	9896	FIG4	ORPHA:3472
HP:0030972	Abnormal systemic blood pressure	55697	VAC14	ORPHA:3472
HP:0030972	Abnormal systemic blood pressure	659	BMPR2	OMIM:178600
HP:0030972	Abnormal systemic blood pressure	2243	FGA	OMIM:105200
HP:0030972	Abnormal systemic blood pressure	7809	BSND	ORPHA:89938
HP:0030972	Abnormal systemic blood pressure	1187	CLCNKA	ORPHA:89938
HP:0030972	Abnormal systemic blood pressure	5566	PRKACA	OMIM:615830
HP:0030972	Abnormal systemic blood pressure	2321	FLT1	ORPHA:275555
HP:0030972	Abnormal systemic blood pressure	219736	STOX1	ORPHA:275555
HP:0030972	Abnormal systemic blood pressure	6804	STX1A	ORPHA:904
HP:0030972	Abnormal systemic blood pressure	7461	CLIP2	ORPHA:904
HP:0030972	Abnormal systemic blood pressure	84277	DNAJC30	ORPHA:904
HP:0030972	Abnormal systemic blood pressure	8468	FKBP6	ORPHA:904
HP:0030972	Abnormal systemic blood pressure	5982	RFC2	ORPHA:904
HP:0030972	Abnormal systemic blood pressure	2969	GTF2I	ORPHA:904
HP:0030972	Abnormal systemic blood pressure	3984	LIMK1	ORPHA:904
HP:0030972	Abnormal systemic blood pressure	9569	GTF2IRD1	ORPHA:904
HP:0030972	Abnormal systemic blood pressure	155382	VPS37D	ORPHA:904
HP:0030972	Abnormal systemic blood pressure	155368	METTL27	ORPHA:904
HP:0030972	Abnormal systemic blood pressure	114049	BUD23	ORPHA:904
HP:0030972	Abnormal systemic blood pressure	7458	EIF4H	ORPHA:904
HP:0030972	Abnormal systemic blood pressure	84163	GTF2IRD2	ORPHA:904
HP:0030972	Abnormal systemic blood pressure	26608	TBL2	ORPHA:904
HP:0030972	Abnormal systemic blood pressure	653361	NCF1	ORPHA:904
HP:0030972	Abnormal systemic blood pressure	135886	TMEM270	ORPHA:904
HP:0030972	Abnormal systemic blood pressure	9031	BAZ1B	ORPHA:904
HP:0030972	Abnormal systemic blood pressure	81031	SLC2A10	ORPHA:3342
HP:0030972	Abnormal systemic blood pressure	81031	SLC2A10	OMIM:208050
HP:0030972	Abnormal systemic blood pressure	3115	HLA-DPB1	ORPHA:900
HP:0030972	Abnormal systemic blood pressure	5657	PRTN3	ORPHA:900
HP:0030972	Abnormal systemic blood pressure	3113	HLA-DPA1	ORPHA:900
HP:0030972	Abnormal systemic blood pressure	7486	WRN	ORPHA:902
HP:0030972	Abnormal systemic blood pressure	4089	SMAD4	OMIM:139210
HP:0030972	Abnormal systemic blood pressure	4089	SMAD4	ORPHA:2588
HP:0030972	Abnormal systemic blood pressure	4089	SMAD4	ORPHA:91387
HP:0030972	Abnormal systemic blood pressure	8481	OFD1	OMIM:311200
HP:0030972	Abnormal systemic blood pressure	8481	OFD1	ORPHA:2750
HP:0030972	Abnormal systemic blood pressure	64135	IFIH1	OMIM:615846
HP:0030972	Abnormal systemic blood pressure	10253	SPRY2	OMIM:616818
HP:0030972	Abnormal systemic blood pressure	51085	MLXIPL	OMIM:194050
HP:0030972	Abnormal systemic blood pressure	4205	MEF2A	OMIM:608320
HP:0030972	Abnormal systemic blood pressure	4846	NOS3	OMIM:189800
HP:0030972	Abnormal systemic blood pressure	7369	UMOD	OMIM:162000
HP:0030972	Abnormal systemic blood pressure	7355	SLC35A2	OMIM:300896
HP:0030972	Abnormal systemic blood pressure	50628	GEMIN4	OMIM:617913
HP:0030972	Abnormal systemic blood pressure	3458	IFNG	ORPHA:805
HP:0030972	Abnormal systemic blood pressure	7248	TSC1	ORPHA:805
HP:0030972	Abnormal systemic blood pressure	7249	TSC2	ORPHA:805
HP:0030972	Abnormal systemic blood pressure	3081	HGD	ORPHA:56
HP:0030972	Abnormal systemic blood pressure	3991	LIPE	OMIM:615980
HP:0030972	Abnormal systemic blood pressure	667	DST	OMIM:614653
HP:0030972	Abnormal systemic blood pressure	51025	PAM16	OMIM:613320
HP:0030972	Abnormal systemic blood pressure	51134	CEP83	OMIM:615862
HP:0030972	Abnormal systemic blood pressure	10878	CFHR3	OMIM:235400
HP:0030972	Abnormal systemic blood pressure	3078	CFHR1	OMIM:235400
HP:0030972	Abnormal systemic blood pressure	2982	GUCY1A1	OMIM:615750
HP:0030972	Abnormal systemic blood pressure	2982	GUCY1A1	ORPHA:401945
HP:0030972	Abnormal systemic blood pressure	4160	MC4R	ORPHA:71529
HP:0030972	Abnormal systemic blood pressure	100151683	RNU4ATAC	OMIM:210710
HP:0030972	Abnormal systemic blood pressure	65062	TMEM237	OMIM:614424
HP:0030972	Abnormal systemic blood pressure	10058	ABCB6	ORPHA:90044
HP:0030972	Abnormal systemic blood pressure	26580	BSCL2	ORPHA:363400
HP:0030972	Abnormal systemic blood pressure	10229	COQ7	OMIM:616733
HP:0030972	Abnormal systemic blood pressure	137682	NDUFAF6	OMIM:618913
HP:0030972	Abnormal systemic blood pressure	23095	KIF1B	OMIM:256700
HP:0030972	Abnormal systemic blood pressure	1287	COL4A5	OMIM:301050
HP:0030972	Abnormal systemic blood pressure	64423	INF2	OMIM:613237
HP:0030972	Abnormal systemic blood pressure	5498	PPOX	ORPHA:79473
HP:0030972	Abnormal systemic blood pressure	55644	OSGEP	OMIM:617729
HP:0030972	Abnormal systemic blood pressure	2328	FMO3	OMIM:602079
HP:0030972	Abnormal systemic blood pressure	1589	CYP21A2	OMIM:201910
HP:0030972	Abnormal systemic blood pressure	2643	GCH1	ORPHA:98808
HP:0030972	Abnormal systemic blood pressure	4929	NR4A2	ORPHA:98808
HP:0030972	Abnormal systemic blood pressure	3615	IMPDH2	ORPHA:98808
HP:0030972	Abnormal systemic blood pressure	284086	NEK8	OMIM:620903
HP:0030972	Abnormal systemic blood pressure	54796	BNC2	ORPHA:93110
HP:0030972	Abnormal systemic blood pressure	3425	IDUA	ORPHA:93473
HP:0030972	Abnormal systemic blood pressure	79783	SUGCT	OMIM:231690
HP:0030972	Abnormal systemic blood pressure	81	ACTN4	OMIM:603278
HP:0030972	Abnormal systemic blood pressure	60401	EDA2R	ORPHA:181
HP:0030972	Abnormal systemic blood pressure	1896	EDA	ORPHA:181
HP:0030972	Abnormal systemic blood pressure	5654	HTRA1	OMIM:616779
HP:0030972	Abnormal systemic blood pressure	5456	POU3F4	ORPHA:1435
HP:0030972	Abnormal systemic blood pressure	8815	BANF1	OMIM:614008
HP:0030972	Abnormal systemic blood pressure	63929	XPNPEP3	OMIM:613159
HP:0030972	Abnormal systemic blood pressure	1285	COL4A3	OMIM:104200
HP:0030972	Abnormal systemic blood pressure	65266	WNK4	OMIM:614491
HP:0030972	Abnormal systemic blood pressure	65125	WNK1	OMIM:614492
HP:0030972	Abnormal systemic blood pressure	23404	EXOSC2	OMIM:617763
HP:0030972	Abnormal systemic blood pressure	26249	KLHL3	OMIM:614495
HP:0030972	Abnormal systemic blood pressure	8452	CUL3	OMIM:614496
HP:0030972	Abnormal systemic blood pressure	7543	ZFX	OMIM:301118
HP:0030972	Abnormal systemic blood pressure	4629	MYH11	ORPHA:91387
HP:0030972	Abnormal systemic blood pressure	7046	TGFBR1	ORPHA:91387
HP:0030972	Abnormal systemic blood pressure	7048	TGFBR2	ORPHA:91387
HP:0030972	Abnormal systemic blood pressure	4015	LOX	ORPHA:91387
HP:0030972	Abnormal systemic blood pressure	4087	SMAD2	ORPHA:91387
HP:0030972	Abnormal systemic blood pressure	7043	TGFB3	ORPHA:91387
HP:0030972	Abnormal systemic blood pressure	4088	SMAD3	ORPHA:91387
HP:0030972	Abnormal systemic blood pressure	7042	TGFB2	ORPHA:91387
HP:0030972	Abnormal systemic blood pressure	5592	PRKG1	ORPHA:91387
HP:0030972	Abnormal systemic blood pressure	2301	FOXE3	ORPHA:91387
HP:0030972	Abnormal systemic blood pressure	4144	MAT2A	ORPHA:91387
HP:0030972	Abnormal systemic blood pressure	23493	HEY2	ORPHA:91387
HP:0030972	Abnormal systemic blood pressure	8076	MFAP5	ORPHA:91387
HP:0030972	Abnormal systemic blood pressure	4638	MYLK	ORPHA:91387
HP:0030972	Abnormal systemic blood pressure	79875	THSD4	ORPHA:91387
HP:0030972	Abnormal systemic blood pressure	55901	THSD1	ORPHA:231160
HP:0030972	Abnormal systemic blood pressure	7049	TGFBR3	ORPHA:231160
HP:0030972	Abnormal systemic blood pressure	83854	ANGPTL6	ORPHA:231160
HP:0030972	Abnormal systemic blood pressure	2022	ENG	ORPHA:231160
HP:0030972	Abnormal systemic blood pressure	55654	TMEM127	OMIM:171300
HP:0030972	Abnormal systemic blood pressure	4149	MAX	OMIM:171300
HP:0030972	Abnormal systemic blood pressure	10660	LBX1	OMIM:619483
HP:0030972	Abnormal systemic blood pressure	1534	CYB561	OMIM:618182
HP:0030972	Abnormal systemic blood pressure	8518	ELP1	OMIM:223900
HP:0030972	Abnormal systemic blood pressure	8518	ELP1	ORPHA:1764
HP:0030972	Abnormal systemic blood pressure	6622	SNCA	OMIM:605543
HP:0030972	Abnormal systemic blood pressure	1621	DBH	ORPHA:230
HP:0030972	Abnormal systemic blood pressure	1621	DBH	OMIM:223360
HP:0030972	Abnormal systemic blood pressure	1136	CHRNA3	OMIM:191800
HP:0030972	Abnormal systemic blood pressure	538	ATP7A	OMIM:304150
HP:0030972	Abnormal systemic blood pressure	84320	ACBD6	OMIM:620785
HP:0030972	Abnormal systemic blood pressure	27235	COQ2	OMIM:146500
HP:0030972	Abnormal systemic blood pressure	1277	COL1A1	ORPHA:287
HP:0030972	Abnormal systemic blood pressure	1289	COL5A1	ORPHA:287
HP:0030972	Abnormal systemic blood pressure	1290	COL5A2	ORPHA:287
HP:0030972	Abnormal systemic blood pressure	2632	GBE1	OMIM:263570
HP:0030972	Abnormal systemic blood pressure	857	CAV1	OMIM:606721
HP:0030972	Abnormal systemic blood pressure	3594	IL12RB1	ORPHA:186
HP:0030972	Abnormal systemic blood pressure	23534	TNPO3	ORPHA:186
HP:0030972	Abnormal systemic blood pressure	3592	IL12A	ORPHA:186
HP:0030972	Abnormal systemic blood pressure	6689	SPIB	ORPHA:186
HP:0030972	Abnormal systemic blood pressure	5450	POU2AF1	ORPHA:186
HP:0030972	Abnormal systemic blood pressure	9966	TNFSF15	ORPHA:186
HP:0030972	Abnormal systemic blood pressure	79258	MMEL1	ORPHA:186
HP:0030972	Abnormal systemic blood pressure	3663	IRF5	ORPHA:186
HP:0030972	Abnormal systemic blood pressure	3074	HEXB	OMIM:268800
HP:0030972	Abnormal systemic blood pressure	51142	CHCHD2	OMIM:616710
HP:0030972	Abnormal systemic blood pressure	80208	SPG11	ORPHA:2822
HP:0030972	Abnormal systemic blood pressure	567	B2M	OMIM:620659
HP:0030972	Abnormal systemic blood pressure	4001	LMNB1	ORPHA:99027
HP:0030972	Abnormal systemic blood pressure	2934	GSN	OMIM:105120
HP:0030972	Abnormal systemic blood pressure	55532	SLC30A10	ORPHA:309854
HP:0030972	Abnormal systemic blood pressure	72	ACTG2	OMIM:619431
HP:0030972	Abnormal systemic blood pressure	9414	TJP2	OMIM:615878
HP:0030972	Abnormal systemic blood pressure	811	CALR	ORPHA:824
HP:0030972	Abnormal systemic blood pressure	811	CALR	ORPHA:131
HP:0030972	Abnormal systemic blood pressure	4352	MPL	ORPHA:824
HP:0030972	Abnormal systemic blood pressure	10056	FARSB	OMIM:613658
HP:0030972	Abnormal systemic blood pressure	197131	UBR1	OMIM:243800
HP:0030972	Abnormal systemic blood pressure	79991	STN1	OMIM:617341
HP:0030972	Abnormal systemic blood pressure	83737	ITCH	OMIM:613385
HP:0030972	Abnormal systemic blood pressure	83737	ITCH	ORPHA:228426
HP:0030972	Abnormal systemic blood pressure	1716	DGUOK	OMIM:617068
HP:0030972	Abnormal systemic blood pressure	1716	DGUOK	OMIM:251880
HP:0030972	Abnormal systemic blood pressure	50674	NEUROG3	ORPHA:83620
HP:0030972	Abnormal systemic blood pressure	84936	ZFYVE19	OMIM:619849
HP:0030972	Abnormal systemic blood pressure	169792	GLIS3	OMIM:610199
HP:0030972	Abnormal systemic blood pressure	23729	SHPK	ORPHA:440713
HP:0030972	Abnormal systemic blood pressure	9076	CLDN1	ORPHA:59303
HP:0030972	Abnormal systemic blood pressure	9076	CLDN1	OMIM:607626
HP:0030972	Abnormal systemic blood pressure	5698	PSMB9	OMIM:620796
HP:0030972	Abnormal systemic blood pressure	6663	SOX10	OMIM:609136
HP:0030972	Abnormal systemic blood pressure	3516	RBPJ	ORPHA:974
HP:0030972	Abnormal systemic blood pressure	57572	DOCK6	ORPHA:974
HP:0030972	Abnormal systemic blood pressure	285203	EOGT	ORPHA:974
HP:0030972	Abnormal systemic blood pressure	54567	DLL4	ORPHA:974
HP:0030972	Abnormal systemic blood pressure	54567	DLL4	OMIM:616589
HP:0030972	Abnormal systemic blood pressure	2658	GDF2	ORPHA:774
HP:0030972	Abnormal systemic blood pressure	2658	GDF2	OMIM:615506
HP:0030972	Abnormal systemic blood pressure	4351	MPI	ORPHA:79319
HP:0030972	Abnormal systemic blood pressure	2153	F5	ORPHA:131
HP:0030972	Abnormal systemic blood pressure	2859	GPR35	ORPHA:171
HP:0030972	Abnormal systemic blood pressure	10507	SEMA4D	ORPHA:171
HP:0030972	Abnormal systemic blood pressure	4485	MST1	ORPHA:171
HP:0030972	Abnormal systemic blood pressure	6925	TCF4	ORPHA:171
HP:0030972	Abnormal systemic blood pressure	79989	IFT56	OMIM:619534
HP:0030972	Abnormal systemic blood pressure	3988	LIPA	OMIM:278000
HP:0030972	Abnormal systemic blood pressure	654	BMP6	ORPHA:465508
HP:0030972	Abnormal systemic blood pressure	3077	HFE	ORPHA:465508
HP:0030972	Abnormal systemic blood pressure	5557	PRIM1	OMIM:620005
HP:0030972	Abnormal systemic blood pressure	25913	POT1	OMIM:620367
HP:0030972	Abnormal systemic blood pressure	92345	NAF1	OMIM:620365
HP:0030972	Abnormal systemic blood pressure	3431	SP110	ORPHA:79124
HP:0030972	Abnormal systemic blood pressure	5825	ABCD3	OMIM:616278
HP:0030972	Abnormal systemic blood pressure	93183	PIGM	OMIM:610293
HP:0030972	Abnormal systemic blood pressure	55340	GIMAP5	OMIM:619463
HP:0030972	Abnormal systemic blood pressure	113220	KIF12	OMIM:619662
HP:0030972	Abnormal systemic blood pressure	7289	TULP3	OMIM:619902
HP:0030972	Abnormal systemic blood pressure	56623	INPP5E	ORPHA:1454
HP:0030972	Abnormal systemic blood pressure	23322	RPGRIP1L	ORPHA:1454
HP:0030972	Abnormal systemic blood pressure	2783	GNB2	OMIM:619503
HP:0030972	Abnormal systemic blood pressure	56244	BTNL2	ORPHA:797
HP:0030972	Abnormal systemic blood pressure	950	SCARB2	ORPHA:77259
HP:0030972	Abnormal systemic blood pressure	171023	ASXL1	ORPHA:98850
HP:0030972	Abnormal systemic blood pressure	171023	ASXL1	ORPHA:98849
HP:0030972	Abnormal systemic blood pressure	54790	TET2	ORPHA:98850
HP:0030972	Abnormal systemic blood pressure	54790	TET2	ORPHA:98849
HP:0030972	Abnormal systemic blood pressure	867	CBL	ORPHA:98850
HP:0030972	Abnormal systemic blood pressure	861	RUNX1	ORPHA:98850
HP:0030972	Abnormal systemic blood pressure	6427	SRSF2	ORPHA:98850
HP:0030972	Abnormal systemic blood pressure	6427	SRSF2	ORPHA:98849
HP:0030972	Abnormal systemic blood pressure	3155	HMGCL	ORPHA:20
HP:0030972	Abnormal systemic blood pressure	6492	SIM1	ORPHA:369873
HP:0030972	Abnormal systemic blood pressure	4791	NFKB2	ORPHA:293978
HP:0030972	Abnormal systemic blood pressure	7428	VHL	OMIM:263400
HP:0030972	Abnormal systemic blood pressure	51422	PRKAG2	OMIM:261740
HP:0030972	Abnormal systemic blood pressure	3815	KIT	ORPHA:98849
HP:0030972	Abnormal systemic blood pressure	3815	KIT	ORPHA:79455
HP:0030972	Abnormal systemic blood pressure	2767	GNA11	ORPHA:428
HP:0030972	Abnormal systemic blood pressure	846	CASR	ORPHA:428
HP:0030972	Abnormal systemic blood pressure	3032	HADHB	OMIM:620300
HP:0030972	Abnormal systemic blood pressure	6261	RYR1	ORPHA:466650
HP:0030972	Abnormal systemic blood pressure	6261	RYR1	OMIM:145600
HP:0030972	Abnormal systemic blood pressure	1636	ACE	OMIM:267430
HP:0030972	Abnormal systemic blood pressure	183	AGT	OMIM:267430
HP:0030972	Abnormal systemic blood pressure	185	AGTR1	OMIM:267430
HP:0030972	Abnormal systemic blood pressure	5972	REN	OMIM:267430
HP:0030972	Abnormal systemic blood pressure	1639	DCTN1	ORPHA:178509
HP:0030972	Abnormal systemic blood pressure	1644	DDC	ORPHA:35708
HP:0030972	Abnormal systemic blood pressure	1644	DDC	OMIM:608643
HP:0030972	Abnormal systemic blood pressure	4221	MEN1	ORPHA:2965
HP:0030972	Abnormal systemic blood pressure	64072	CDH23	ORPHA:2965
HP:0030972	Abnormal systemic blood pressure	64072	CDH23	ORPHA:91347
HP:0030972	Abnormal systemic blood pressure	9049	AIP	ORPHA:2965
HP:0030972	Abnormal systemic blood pressure	710	SERPING1	ORPHA:100050
HP:0030972	Abnormal systemic blood pressure	3284	HSD3B2	ORPHA:90791
HP:0030972	Abnormal systemic blood pressure	7139	TNNT2	OMIM:612422
HP:0030972	Abnormal systemic blood pressure	1585	CYP11B2	OMIM:203400
HP:0030972	Abnormal systemic blood pressure	1585	CYP11B2	ORPHA:556030
HP:0030972	Abnormal systemic blood pressure	2332	FMR1	ORPHA:93256
HP:0030972	Abnormal systemic blood pressure	1583	CYP11A1	ORPHA:289548
HP:0030972	Abnormal systemic blood pressure	1583	CYP11A1	ORPHA:168558
HP:0030972	Abnormal systemic blood pressure	5144	PDE4D	ORPHA:439822
HP:0030972	Abnormal systemic blood pressure	4582	MUC1	OMIM:174000
HP:0030972	Abnormal systemic blood pressure	788	SLC25A20	ORPHA:159
HP:0030972	Abnormal systemic blood pressure	788	SLC25A20	OMIM:212138
HP:0030972	Abnormal systemic blood pressure	213	ALB	OMIM:616000
HP:0030972	Abnormal systemic blood pressure	29926	GMPPA	ORPHA:869
HP:0030972	Abnormal systemic blood pressure	60684	TRAPPC11	ORPHA:869
HP:0030972	Abnormal systemic blood pressure	8086	AAAS	ORPHA:869
HP:0030972	Abnormal systemic blood pressure	1188	CLCNKB	OMIM:607364
HP:0030972	Abnormal systemic blood pressure	5626	PROP1	ORPHA:95494
HP:0030972	Abnormal systemic blood pressure	5626	PROP1	ORPHA:90695
HP:0030972	Abnormal systemic blood pressure	2736	GLI2	ORPHA:95494
HP:0030972	Abnormal systemic blood pressure	89884	LHX4	ORPHA:95494
HP:0030972	Abnormal systemic blood pressure	3170	FOXA2	ORPHA:95494
HP:0030972	Abnormal systemic blood pressure	5449	POU1F1	ORPHA:95494
HP:0030972	Abnormal systemic blood pressure	8820	HESX1	ORPHA:95494
HP:0030972	Abnormal systemic blood pressure	5015	OTX2	ORPHA:95494
HP:0030972	Abnormal systemic blood pressure	6288	SAA1	ORPHA:85445
HP:0030972	Abnormal systemic blood pressure	4306	NR3C2	OMIM:177735
HP:0030972	Abnormal systemic blood pressure	3075	CFH	ORPHA:244242
HP:0030972	Abnormal systemic blood pressure	3426	CFI	ORPHA:244242
HP:0030972	Abnormal systemic blood pressure	4179	CD46	ORPHA:244242
HP:0030972	Abnormal systemic blood pressure	101101692	HELLPAR	ORPHA:244242
HP:0030972	Abnormal systemic blood pressure	866	SERPINA6	OMIM:611489
HP:0030972	Abnormal systemic blood pressure	3662	IRF4	ORPHA:3452
HP:0030972	Abnormal systemic blood pressure	38	ACAT1	ORPHA:134
HP:0030972	Abnormal systemic blood pressure	6337	SCNN1A	OMIM:264350
HP:0030972	Abnormal systemic blood pressure	6440	SFTPC	ORPHA:685082
HP:0030972	Abnormal systemic blood pressure	21	ABCA3	ORPHA:685082
HP:0030972	Abnormal systemic blood pressure	6439	SFTPB	ORPHA:685082
HP:0030972	Abnormal systemic blood pressure	9095	TBX19	ORPHA:199296
HP:0030972	Abnormal systemic blood pressure	6338	SCNN1B	OMIM:620125
HP:0030972	Abnormal systemic blood pressure	56246	MRAP	ORPHA:361
HP:0030972	Abnormal systemic blood pressure	6770	STAR	ORPHA:361
HP:0030972	Abnormal systemic blood pressure	4158	MC2R	ORPHA:361
HP:0030972	Abnormal systemic blood pressure	23530	NNT	ORPHA:361
HP:0030972	Abnormal systemic blood pressure	10587	TXNRD2	ORPHA:361
HP:0030972	Abnormal systemic blood pressure	546	ATRX	ORPHA:100075
HP:0030972	Abnormal systemic blood pressure	6559	SLC12A3	OMIM:263800
HP:0030972	Abnormal systemic blood pressure	8942	KYNU	ORPHA:79155
HP:0030972	Abnormal systemic blood pressure	5052	PRDX1	OMIM:277400
HP:0030972	Abnormal systemic blood pressure	25974	MMACHC	OMIM:277400
HP:0030972	Abnormal systemic blood pressure	6658	SOX3	ORPHA:90695
HP:0030972	Abnormal systemic blood pressure	6557	SLC12A1	OMIM:601678
HP:0030972	Abnormal systemic blood pressure	3758	KCNJ1	OMIM:241200
HP:0030972	Abnormal systemic blood pressure	1743	DLST	ORPHA:29072
HP:0030972	Abnormal systemic blood pressure	4191	MDH2	ORPHA:29072
HP:0030972	Abnormal systemic blood pressure	6389	SDHA	ORPHA:29072
HP:0030972	Abnormal systemic blood pressure	2271	FH	ORPHA:29072
HP:0030972	Abnormal systemic blood pressure	54949	SDHAF2	ORPHA:29072
HP:0030972	Abnormal systemic blood pressure	6391	SDHC	ORPHA:29072
HP:0030972	Abnormal systemic blood pressure	6391	SDHC	OMIM:605373
HP:0030972	Abnormal systemic blood pressure	6392	SDHD	ORPHA:29072
HP:0030972	Abnormal systemic blood pressure	6392	SDHD	OMIM:168000
HP:0030972	Abnormal systemic blood pressure	6392	SDHD	ORPHA:276621
HP:0030972	Abnormal systemic blood pressure	6390	SDHB	ORPHA:29072
HP:0030972	Abnormal systemic blood pressure	6390	SDHB	ORPHA:276621
HP:0030972	Abnormal systemic blood pressure	6390	SDHB	OMIM:115310
HP:0030972	Abnormal systemic blood pressure	1788	DNMT3A	ORPHA:276621
HP:0030972	Abnormal systemic blood pressure	2034	EPAS1	ORPHA:276621
HP:0030972	Abnormal systemic blood pressure	554	AVPR2	OMIM:300539
HP:0030972	Abnormal systemic blood pressure	5740	PTGIS	OMIM:145500
HP:0030972	Abnormal systemic blood pressure	1577	CYP3A5	OMIM:145500
HP:0030972	Abnormal systemic blood pressure	2784	GNB3	OMIM:145500
HP:0030972	Abnormal systemic blood pressure	481	ATP1B1	OMIM:145500
HP:0030972	Abnormal systemic blood pressure	8490	RGS5	OMIM:145500
HP:0030972	Abnormal systemic blood pressure	118	ADD1	OMIM:145500
HP:0030972	Abnormal systemic blood pressure	4914	NTRK1	ORPHA:642
HP:0030972	Abnormal systemic blood pressure	410	ARSA	ORPHA:309271
HP:0030972	Abnormal systemic blood pressure	5660	PSAP	ORPHA:309271
HP:0030972	Abnormal systemic blood pressure	3953	LEPR	ORPHA:179494
HP:0030972	Abnormal systemic blood pressure	23317	DNAJC13	ORPHA:411602
HP:0030972	Abnormal systemic blood pressure	1981	EIF4G1	ORPHA:411602
HP:0030972	Abnormal systemic blood pressure	55737	VPS35	ORPHA:411602
HP:0030972	Abnormal systemic blood pressure	120892	LRRK2	ORPHA:411602
HP:0030972	Abnormal systemic blood pressure	26058	GIGYF2	ORPHA:411602
HP:0030972	Abnormal systemic blood pressure	3952	LEP	ORPHA:66628
HP:0030972	Abnormal systemic blood pressure	7276	TTR	OMIM:105210
HP:0030972	Abnormal systemic blood pressure	3593	IL12B	ORPHA:3287
HP:0030972	Abnormal systemic blood pressure	3106	HLA-B	ORPHA:3287
HP:0030972	Abnormal systemic blood pressure	6945	MLX	ORPHA:3287
HP:0030972	Abnormal systemic blood pressure	1161	ERCC8	ORPHA:90324
HP:0030972	Abnormal systemic blood pressure	2074	ERCC6	ORPHA:90324
HP:0030972	Abnormal systemic blood pressure	100147744	RNU7-1	OMIM:619487
HP:0030972	Abnormal systemic blood pressure	1235	CCR6	ORPHA:220393
HP:0030972	Abnormal systemic blood pressure	1490	CCN2	ORPHA:220393
HP:0030972	Abnormal systemic blood pressure	1312	COMT	ORPHA:567
HP:0030972	Abnormal systemic blood pressure	221037	JMJD1C	ORPHA:567
HP:0030972	Abnormal systemic blood pressure	2812	GP1BB	ORPHA:567
HP:0030972	Abnormal systemic blood pressure	6239	RREB1	ORPHA:567
HP:0030972	Abnormal systemic blood pressure	6899	TBX1	ORPHA:567
HP:0030972	Abnormal systemic blood pressure	7290	HIRA	ORPHA:567
HP:0030972	Abnormal systemic blood pressure	9632	SEC24C	ORPHA:567
HP:0030972	Abnormal systemic blood pressure	7353	UFD1	ORPHA:567
HP:0030972	Abnormal systemic blood pressure	421	ARVCF	ORPHA:567
HP:0030972	Abnormal systemic blood pressure	389827	MYMK	ORPHA:1358
HP:0030972	Abnormal systemic blood pressure	101929726	MYMX	ORPHA:1358
HP:0030972	Abnormal systemic blood pressure	6772	STAT1	ORPHA:391487
HP:0030973	Postexertional symptom exacerbation	6840	SVIL	OMIM:619040
HP:0030973	Postexertional symptom exacerbation	6331	SCN5A	ORPHA:1344
HP:0030973	Postexertional symptom exacerbation	4878	NPPA	ORPHA:1344
HP:0030973	Postexertional symptom exacerbation	23299	BICD2	OMIM:615290
HP:0030973	Postexertional symptom exacerbation	3753	KCNE1	ORPHA:90647
HP:0030973	Postexertional symptom exacerbation	3784	KCNQ1	ORPHA:90647
HP:0030973	Postexertional symptom exacerbation	1311	COMP	ORPHA:93308
HP:0030973	Postexertional symptom exacerbation	56606	SLC2A9	ORPHA:94088
HP:0030973	Postexertional symptom exacerbation	116085	SLC22A12	ORPHA:94088
HP:0030973	Postexertional symptom exacerbation	5836	PYGL	ORPHA:369
HP:0030973	Postexertional symptom exacerbation	5837	PYGM	ORPHA:368
HP:0030973	Postexertional symptom exacerbation	1297	COL9A1	ORPHA:166002
HP:0030973	Postexertional symptom exacerbation	1298	COL9A2	ORPHA:166002
HP:0030973	Postexertional symptom exacerbation	1299	COL9A3	ORPHA:166002
HP:0030974	Cryptozoospermia	10388	SYCP2	OMIM:258150
HP:0030974	Cryptozoospermia	375307	CATIP	OMIM:619379
HP:0030974	Cryptozoospermia	254528	MEIOB	OMIM:617706
HP:0030974	Cryptozoospermia	2516	NR5A1	OMIM:613957
HP:0030974	Cryptozoospermia	56154	TEX15	OMIM:617960
HP:0030974	Cryptozoospermia	122402	TDRD9	OMIM:618110
HP:0030976	Abnormal factor VIII activity	2157	F8	OMIM:306700
HP:0030976	Abnormal factor VIII activity	2157	F8	ORPHA:177926
HP:0030976	Abnormal factor VIII activity	2157	F8	ORPHA:169805
HP:0030976	Abnormal factor VIII activity	2157	F8	ORPHA:169802
HP:0030976	Abnormal factor VIII activity	7450	VWF	OMIM:193400
HP:0030976	Abnormal factor VIII activity	7450	VWF	OMIM:277480
HP:0030976	Abnormal factor VIII activity	3998	LMAN1	OMIM:227300
HP:0030976	Abnormal factor VIII activity	3998	LMAN1	ORPHA:35909
HP:0030976	Abnormal factor VIII activity	90411	MCFD2	ORPHA:35909
HP:0030976	Abnormal factor VIII activity	90411	MCFD2	OMIM:613625
HP:0030976	Abnormal factor VIII activity	6654	SOS1	OMIM:610733
HP:0030976	Abnormal factor VIII activity	7058	THBS2	OMIM:620865
HP:0030977	Increased factor VIII activity	2157	F8	OMIM:301071
HP:0030978	Decreased CSF/serum albumin ratio	55768	NGLY1	OMIM:615273
HP:0004840	Hypochromic microcytic anemia	212	ALAS2	OMIM:300751
HP:0004840	Hypochromic microcytic anemia	9663	LPIN2	ORPHA:77297
HP:0004840	Hypochromic microcytic anemia	3735	KARS1	ORPHA:3240
HP:0004840	Hypochromic microcytic anemia	3735	KARS1	OMIM:619147
HP:0004840	Hypochromic microcytic anemia	164656	TMPRSS6	ORPHA:209981
HP:0004840	Hypochromic microcytic anemia	164656	TMPRSS6	OMIM:206200
HP:0004840	Hypochromic microcytic anemia	29775	CARD10	OMIM:619632
HP:0004840	Hypochromic microcytic anemia	51095	TRNT1	OMIM:616084
HP:0004840	Hypochromic microcytic anemia	3043	HBB	ORPHA:231214
HP:0004840	Hypochromic microcytic anemia	3043	HBB	ORPHA:2133
HP:0004840	Hypochromic microcytic anemia	3043	HBB	OMIM:604131
HP:0004840	Hypochromic microcytic anemia	3043	HBB	ORPHA:251380
HP:0004840	Hypochromic microcytic anemia	3043	HBB	ORPHA:231226
HP:0004840	Hypochromic microcytic anemia	3043	HBB	OMIM:613985
HP:0004840	Hypochromic microcytic anemia	131118	DNAJC19	ORPHA:66634
HP:0004840	Hypochromic microcytic anemia	3040	HBA2	OMIM:604131
HP:0004840	Hypochromic microcytic anemia	3039	HBA1	OMIM:604131
HP:0004840	Hypochromic microcytic anemia	546	ATRX	OMIM:301040
HP:0004840	Hypochromic microcytic anemia	546	ATRX	OMIM:300448
HP:0004840	Hypochromic microcytic anemia	53335	BCL11A	ORPHA:251380
HP:0004840	Hypochromic microcytic anemia	10661	KLF1	ORPHA:251380
HP:0004840	Hypochromic microcytic anemia	3047	HBG1	ORPHA:251380
HP:0004840	Hypochromic microcytic anemia	3048	HBG2	ORPHA:251380
HP:0004840	Hypochromic microcytic anemia	28962	OSTM1	OMIM:259720
HP:0004840	Hypochromic microcytic anemia	22	ABCB7	OMIM:301310
HP:0004840	Hypochromic microcytic anemia	22	ABCB7	ORPHA:2802
HP:0004840	Hypochromic microcytic anemia	205327	C2orf69	OMIM:619423
HP:0004840	Hypochromic microcytic anemia	150274	HSCB	OMIM:619523
HP:0004840	Hypochromic microcytic anemia	1356	CP	ORPHA:48818
HP:0004840	Hypochromic microcytic anemia	23729	SHPK	ORPHA:440713
HP:0004840	Hypochromic microcytic anemia	6901	TAFAZZIN	OMIM:302060
HP:0004841	Reduced factor XII activity	2542	SLC37A4	OMIM:619525
HP:0004841	Reduced factor XII activity	2161	F12	ORPHA:330
HP:0004841	Reduced factor XII activity	2161	F12	OMIM:234000
HP:0004841	Reduced factor XII activity	4247	MGAT2	OMIM:212066
HP:0004841	Reduced factor XII activity	673	BRAF	OMIM:163950
HP:0004841	Reduced factor XII activity	5604	MAP2K1	OMIM:163950
HP:0004841	Reduced factor XII activity	5781	PTPN11	OMIM:163950
HP:0004848	Ph-positive acute lymphoblastic leukemia	25	ABL1	OMIM:608232
HP:0004848	Ph-positive acute lymphoblastic leukemia	613	BCR	OMIM:608232
HP:0001978	Extramedullary hematopoiesis	3043	HBB	ORPHA:231222
HP:0001978	Extramedullary hematopoiesis	3043	HBB	ORPHA:231226
HP:0001978	Extramedullary hematopoiesis	3043	HBB	ORPHA:231214
HP:0001978	Extramedullary hematopoiesis	23395	LARS2	OMIM:617021
HP:0001978	Extramedullary hematopoiesis	11311	VPS45	OMIM:615285
HP:0001978	Extramedullary hematopoiesis	10019	SH2B3	OMIM:254450
HP:0001978	Extramedullary hematopoiesis	811	CALR	OMIM:254450
HP:0001978	Extramedullary hematopoiesis	811	CALR	ORPHA:824
HP:0001978	Extramedullary hematopoiesis	3717	JAK2	OMIM:254450
HP:0001978	Extramedullary hematopoiesis	3717	JAK2	ORPHA:824
HP:0001978	Extramedullary hematopoiesis	4352	MPL	OMIM:254450
HP:0001978	Extramedullary hematopoiesis	4352	MPL	ORPHA:824
HP:0001978	Extramedullary hematopoiesis	83706	FERMT3	OMIM:612840
HP:0001978	Extramedullary hematopoiesis	54790	TET2	ORPHA:824
HP:0001978	Extramedullary hematopoiesis	2263	FGFR2	ORPHA:313855
HP:0001978	Extramedullary hematopoiesis	760	CA2	OMIM:259730
HP:0001978	Extramedullary hematopoiesis	2038	EPB42	ORPHA:822
HP:0001978	Extramedullary hematopoiesis	6521	SLC4A1	ORPHA:822
HP:0001978	Extramedullary hematopoiesis	6710	SPTB	ORPHA:822
HP:0001978	Extramedullary hematopoiesis	6708	SPTA1	ORPHA:822
HP:0001978	Extramedullary hematopoiesis	286	ANK1	ORPHA:822
HP:0001978	Extramedullary hematopoiesis	8600	TNFSF11	OMIM:259710
HP:0001978	Extramedullary hematopoiesis	6718	AKR1D1	ORPHA:79303
HP:0001978	Extramedullary hematopoiesis	8241	RBM10	ORPHA:2886
HP:0001978	Extramedullary hematopoiesis	28962	OSTM1	OMIM:259720
HP:0004846	Prolonged bleeding after surgery	2165	F13B	ORPHA:331
HP:0004846	Prolonged bleeding after surgery	2165	F13B	OMIM:613235
HP:0004846	Prolonged bleeding after surgery	2162	F13A1	ORPHA:331
HP:0004846	Prolonged bleeding after surgery	5054	SERPINE1	ORPHA:465
HP:0004846	Prolonged bleeding after surgery	2157	F8	ORPHA:177926
HP:0004846	Prolonged bleeding after surgery	2157	F8	ORPHA:169805
HP:0004846	Prolonged bleeding after surgery	2157	F8	ORPHA:169802
HP:0004846	Prolonged bleeding after surgery	2811	GP1BA	ORPHA:274
HP:0004846	Prolonged bleeding after surgery	2811	GP1BA	OMIM:231200
HP:0004846	Prolonged bleeding after surgery	2812	GP1BB	ORPHA:274
HP:0004846	Prolonged bleeding after surgery	2812	GP1BB	OMIM:231200
HP:0004846	Prolonged bleeding after surgery	2815	GP9	ORPHA:274
HP:0004846	Prolonged bleeding after surgery	2815	GP9	OMIM:231200
HP:0004846	Prolonged bleeding after surgery	2159	F10	OMIM:227600
HP:0004846	Prolonged bleeding after surgery	2159	F10	ORPHA:328
HP:0004846	Prolonged bleeding after surgery	3690	ITGB3	OMIM:619267
HP:0004846	Prolonged bleeding after surgery	3690	ITGB3	ORPHA:849
HP:0004846	Prolonged bleeding after surgery	7450	VWF	OMIM:193400
HP:0004846	Prolonged bleeding after surgery	7450	VWF	OMIM:277480
HP:0004846	Prolonged bleeding after surgery	3998	LMAN1	ORPHA:35909
HP:0004846	Prolonged bleeding after surgery	90411	MCFD2	ORPHA:35909
HP:0004846	Prolonged bleeding after surgery	3674	ITGA2B	ORPHA:849
HP:0004846	Prolonged bleeding after surgery	64805	P2RY12	OMIM:609821
HP:0004846	Prolonged bleeding after surgery	7171	TPM4	OMIM:620486
HP:0004846	Prolonged bleeding after surgery	2155	F7	ORPHA:327
HP:0004846	Prolonged bleeding after surgery	2153	F5	ORPHA:326
HP:0004844	Coombs-positive hemolytic anemia	355	FAS	ORPHA:3261
HP:0004844	Coombs-positive hemolytic anemia	355	FAS	OMIM:601859
HP:0004844	Coombs-positive hemolytic anemia	356	FASLG	ORPHA:3261
HP:0004844	Coombs-positive hemolytic anemia	356	FASLG	OMIM:601859
HP:0004844	Coombs-positive hemolytic anemia	843	CASP10	ORPHA:3261
HP:0004844	Coombs-positive hemolytic anemia	843	CASP10	OMIM:603909
HP:0004844	Coombs-positive hemolytic anemia	139818	DOCK11	OMIM:301109
HP:0004844	Coombs-positive hemolytic anemia	3162	HMOX1	OMIM:614034
HP:0004844	Coombs-positive hemolytic anemia	7293	TNFRSF4	OMIM:615593
HP:0004844	Coombs-positive hemolytic anemia	8651	SOCS1	OMIM:619375
HP:0004844	Coombs-positive hemolytic anemia	27040	LAT	OMIM:617514
HP:0004844	Coombs-positive hemolytic anemia	8456	FOXN1	ORPHA:83471
HP:0004844	Coombs-positive hemolytic anemia	50943	FOXP3	OMIM:304790
HP:0025677	Fetal chylothorax	29969	MDFIC	OMIM:620014
HP:0025676	Fetal pleural effusion	4927	NUP88	OMIM:618393
HP:0025676	Fetal pleural effusion	29969	MDFIC	OMIM:620014
HP:0025676	Fetal pleural effusion	8216	LZTR1	OMIM:605275
HP:0025676	Fetal pleural effusion	55901	THSD1	OMIM:620244
HP:0025676	Fetal pleural effusion	54675	CRLS1	OMIM:620167
HP:0025676	Fetal pleural effusion	6007	RHD	OMIM:619462
HP:0025680	Compound muscle action potential amplitude facilitation	127833	SYT2	OMIM:616040
HP:0025681	Distal clavicular thinning	55733	HHAT	OMIM:600092
HP:0025682	Crouch gait	51343	FZR1	OMIM:620145
HP:0030980	Reduced brain glutamine level by MRS	55768	NGLY1	OMIM:615273
HP:0030981	Abnormal CSF/serum albumin ratio	55768	NGLY1	OMIM:615273
HP:0030983	Ovarian thecoma	23405	DICER1	OMIM:180295
HP:0030984	Abnormal serum bile acid concentration	9414	TJP2	OMIM:607748
HP:0030984	Abnormal serum bile acid concentration	5205	ATP8B1	OMIM:243300
HP:0030984	Abnormal serum bile acid concentration	5205	ATP8B1	ORPHA:69665
HP:0030984	Abnormal serum bile acid concentration	10165	SLC25A13	OMIM:605814
HP:0030984	Abnormal serum bile acid concentration	6888	TALDO1	ORPHA:101028
HP:0030984	Abnormal serum bile acid concentration	5244	ABCB4	OMIM:602347
HP:0030984	Abnormal serum bile acid concentration	5244	ABCB4	ORPHA:69665
HP:0030984	Abnormal serum bile acid concentration	6554	SLC10A1	OMIM:619256
HP:0030984	Abnormal serum bile acid concentration	55610	VPS50	OMIM:619685
HP:0030984	Abnormal serum bile acid concentration	55898	UNC45A	OMIM:619377
HP:0030984	Abnormal serum bile acid concentration	6514	SLC2A2	OMIM:227810
HP:0030984	Abnormal serum bile acid concentration	57003	CCDC47	OMIM:618268
HP:0030984	Abnormal serum bile acid concentration	8482	SEMA7A	OMIM:619874
HP:0030984	Abnormal serum bile acid concentration	162	AP1B1	OMIM:242150
HP:0030984	Abnormal serum bile acid concentration	5825	ABCD3	OMIM:616278
HP:0030984	Abnormal serum bile acid concentration	8647	ABCB11	ORPHA:69665
HP:0030984	Abnormal serum bile acid concentration	9971	NR1H4	ORPHA:69665
HP:0030984	Abnormal serum bile acid concentration	113220	KIF12	OMIM:619662
HP:0030984	Abnormal serum bile acid concentration	4358	MPV17	OMIM:256810
HP:0030984	Abnormal serum bile acid concentration	4645	MYO5B	OMIM:619868
HP:0030984	Abnormal serum bile acid concentration	26276	VPS33B	OMIM:620010
HP:0030984	Abnormal serum bile acid concentration	199221	DZIP1L	ORPHA:731
HP:0030984	Abnormal serum bile acid concentration	5314	PKHD1	ORPHA:731
HP:0030984	Abnormal serum bile acid concentration	134218	DNAJC21	ORPHA:811
HP:0030984	Abnormal serum bile acid concentration	79631	EFL1	ORPHA:811
HP:0030984	Abnormal serum bile acid concentration	51119	SBDS	ORPHA:811
HP:0030984	Abnormal serum bile acid concentration	6718	AKR1D1	ORPHA:79303
HP:0030984	Abnormal serum bile acid concentration	23600	AMACR	OMIM:214950
HP:0030984	Abnormal serum bile acid concentration	123264	SLC51B	OMIM:619481
HP:0030985	Decreased serum bile acid concentration	23600	AMACR	OMIM:214950
HP:0030985	Decreased serum bile acid concentration	123264	SLC51B	OMIM:619481
HP:0001889	Megaloblastic anemia	8029	CUBN	ORPHA:35858
HP:0001889	Megaloblastic anemia	8029	CUBN	OMIM:261100
HP:0001889	Megaloblastic anemia	81693	AMN	ORPHA:35858
HP:0001889	Megaloblastic anemia	81693	AMN	OMIM:618882
HP:0001889	Megaloblastic anemia	10841	FTCD	ORPHA:51208
HP:0001889	Megaloblastic anemia	10841	FTCD	OMIM:229100
HP:0001889	Megaloblastic anemia	2694	CBLIF	OMIM:261000
HP:0001889	Megaloblastic anemia	6573	SLC19A1	OMIM:620603
HP:0001889	Megaloblastic anemia	25974	MMACHC	ORPHA:79282
HP:0001889	Megaloblastic anemia	25974	MMACHC	OMIM:277400
HP:0001889	Megaloblastic anemia	55788	LMBRD1	ORPHA:79284
HP:0001889	Megaloblastic anemia	55788	LMBRD1	OMIM:277380
HP:0001889	Megaloblastic anemia	27249	MMADHC	OMIM:277410
HP:0001889	Megaloblastic anemia	1719	DHFR	OMIM:613839
HP:0001889	Megaloblastic anemia	113235	SLC46A1	ORPHA:90045
HP:0001889	Megaloblastic anemia	4552	MTRR	OMIM:236270
HP:0001889	Megaloblastic anemia	3251	HPRT1	OMIM:300322
HP:0001889	Megaloblastic anemia	7466	WFS1	OMIM:222300
HP:0001889	Megaloblastic anemia	4522	MTHFD1	OMIM:617780
HP:0001889	Megaloblastic anemia	26227	PHGDH	OMIM:601815
HP:0001889	Megaloblastic anemia	26227	PHGDH	ORPHA:79351
HP:0001889	Megaloblastic anemia	10560	SLC19A2	ORPHA:49827
HP:0001889	Megaloblastic anemia	4548	MTR	OMIM:250940
HP:0001889	Megaloblastic anemia	5052	PRDX1	OMIM:277400
HP:0001889	Megaloblastic anemia	7372	UMPS	OMIM:258900
HP:0004859	Amegakaryocytic thrombocytopenia	4352	MPL	OMIM:604498
HP:0004859	Amegakaryocytic thrombocytopenia	2122	MECOM	ORPHA:71289
HP:0004859	Amegakaryocytic thrombocytopenia	3207	HOXA11	ORPHA:71289
HP:0004859	Amegakaryocytic thrombocytopenia	3207	HOXA11	OMIM:605432
HP:0004859	Amegakaryocytic thrombocytopenia	673	BRAF	OMIM:163950
HP:0004859	Amegakaryocytic thrombocytopenia	5604	MAP2K1	OMIM:163950
HP:0004859	Amegakaryocytic thrombocytopenia	5781	PTPN11	OMIM:163950
HP:0004856	Normochromic microcytic anemia	131118	DNAJC19	OMIM:610198
HP:0004856	Normochromic microcytic anemia	131118	DNAJC19	ORPHA:66634
HP:0004855	Reduced protein S activity	4351	MPI	ORPHA:79319
HP:0004855	Reduced protein S activity	1798	DPAGT1	ORPHA:86309
HP:0004855	Reduced protein S activity	8813	DPM1	OMIM:608799
HP:0004855	Reduced protein S activity	8813	DPM1	ORPHA:79322
HP:0004855	Reduced protein S activity	84342	COG8	OMIM:611182
HP:0004855	Reduced protein S activity	2677	GGCX	OMIM:277450
HP:0004855	Reduced protein S activity	5627	PROS1	OMIM:614514
HP:0004855	Reduced protein S activity	5627	PROS1	OMIM:612336
HP:0004855	Reduced protein S activity	29929	ALG6	ORPHA:79320
HP:0004855	Reduced protein S activity	2683	B4GALT1	ORPHA:79332
HP:0004855	Reduced protein S activity	79087	ALG12	ORPHA:79324
HP:0004854	Intermittent thrombocytopenia	92579	G6PC3	OMIM:612541
HP:0004854	Intermittent thrombocytopenia	7454	WAS	OMIM:313900
HP:0004854	Intermittent thrombocytopenia	9948	WDR1	OMIM:150550
HP:0004854	Intermittent thrombocytopenia	7037	TFRC	OMIM:616740
HP:0004854	Intermittent thrombocytopenia	2811	GP1BA	OMIM:177820
HP:0004852	Reduced leukocyte alkaline phosphatase	25	ABL1	OMIM:608232
HP:0004852	Reduced leukocyte alkaline phosphatase	613	BCR	OMIM:608232
HP:0004851	Folate-responsive megaloblastic anemia	113235	SLC46A1	OMIM:229050
HP:0004851	Folate-responsive megaloblastic anemia	6573	SLC19A1	OMIM:601775
HP:0004850	Recurrent deep vein thrombosis	3053	SERPIND1	OMIM:612356
HP:0004850	Recurrent deep vein thrombosis	5624	PROC	OMIM:612304
HP:0001607	Subglottic stenosis	27125	AFF4	ORPHA:444077
HP:0001607	Subglottic stenosis	6926	TBX3	OMIM:181450
HP:0001607	Subglottic stenosis	341640	FREM2	ORPHA:2052
HP:0001607	Subglottic stenosis	80144	FRAS1	ORPHA:2052
HP:0001607	Subglottic stenosis	80144	FRAS1	OMIM:219000
HP:0001607	Subglottic stenosis	23426	GRIP1	ORPHA:2052
HP:0001607	Subglottic stenosis	10262	SF3B4	OMIM:154400
HP:0001607	Subglottic stenosis	1062	CENPE	OMIM:616051
HP:0001607	Subglottic stenosis	79631	EFL1	OMIM:617941
HP:0001607	Subglottic stenosis	6885	MAP3K7	OMIM:617137
HP:0001607	Subglottic stenosis	6885	MAP3K7	ORPHA:1826
HP:0001607	Subglottic stenosis	6662	SOX9	ORPHA:718
HP:0001607	Subglottic stenosis	4087	SMAD2	OMIM:619657
HP:0001607	Subglottic stenosis	6091	ROBO1	OMIM:620305
HP:0001607	Subglottic stenosis	79753	SNIP1	OMIM:614501
HP:0001607	Subglottic stenosis	2316	FLNA	ORPHA:1826
HP:0001607	Subglottic stenosis	1493	CTLA4	ORPHA:900
HP:0001607	Subglottic stenosis	26191	PTPN22	ORPHA:900
HP:0001607	Subglottic stenosis	3115	HLA-DPB1	ORPHA:900
HP:0001607	Subglottic stenosis	5657	PRTN3	ORPHA:900
HP:0001607	Subglottic stenosis	3113	HLA-DPA1	ORPHA:900
HP:0001607	Subglottic stenosis	4796	TONSL	ORPHA:93357
HP:0001607	Subglottic stenosis	4796	TONSL	OMIM:271510
HP:0001607	Subglottic stenosis	51199	NIN	ORPHA:319675
HP:0001607	Subglottic stenosis	4054	LTBP3	OMIM:617809
HP:0001605	Vocal cord paralysis	9361	LONP1	OMIM:600373
HP:0001605	Vocal cord paralysis	54332	GDAP1	OMIM:607706
HP:0001605	Vocal cord paralysis	54332	GDAP1	ORPHA:99948
HP:0001605	Vocal cord paralysis	54332	GDAP1	ORPHA:101097
HP:0001605	Vocal cord paralysis	182	JAG1	OMIM:619574
HP:0001605	Vocal cord paralysis	57716	PRX	OMIM:614895
HP:0001605	Vocal cord paralysis	59341	TRPV4	OMIM:606071
HP:0001605	Vocal cord paralysis	79628	SH3TC2	ORPHA:99949
HP:0001605	Vocal cord paralysis	9782	MATR3	ORPHA:600
HP:0001605	Vocal cord paralysis	353116	RILPL1	ORPHA:98897
HP:0001605	Vocal cord paralysis	10755	GIPC1	ORPHA:98897
HP:0001605	Vocal cord paralysis	29967	LRP12	ORPHA:98897
HP:0001605	Vocal cord paralysis	100996717	NOTCH2NLC	ORPHA:98897
HP:0001605	Vocal cord paralysis	5376	PMP22	OMIM:162500
HP:0001605	Vocal cord paralysis	5376	PMP22	ORPHA:640
HP:0001605	Vocal cord paralysis	7125	TNNC2	OMIM:620161
HP:0001605	Vocal cord paralysis	9997	SCO2	OMIM:604377
HP:0001605	Vocal cord paralysis	60482	SLC5A7	OMIM:158580
HP:0001605	Vocal cord paralysis	79784	MYH14	ORPHA:397744
HP:0001605	Vocal cord paralysis	23321	TRIM2	OMIM:615490
HP:0001605	Vocal cord paralysis	112	ADCY6	OMIM:616287
HP:0001605	Vocal cord paralysis	25885	POLR1A	OMIM:616462
HP:0001605	Vocal cord paralysis	22943	DKK1	ORPHA:268882
HP:0001605	Vocal cord paralysis	816	CAMK2B	OMIM:617799
HP:0001605	Vocal cord paralysis	7428	VHL	ORPHA:29072
HP:0001605	Vocal cord paralysis	7428	VHL	ORPHA:276621
HP:0001605	Vocal cord paralysis	1743	DLST	ORPHA:29072
HP:0001605	Vocal cord paralysis	4191	MDH2	ORPHA:29072
HP:0001605	Vocal cord paralysis	5979	RET	ORPHA:29072
HP:0001605	Vocal cord paralysis	5979	RET	ORPHA:276621
HP:0001605	Vocal cord paralysis	6389	SDHA	ORPHA:29072
HP:0001605	Vocal cord paralysis	23095	KIF1B	ORPHA:29072
HP:0001605	Vocal cord paralysis	2271	FH	ORPHA:29072
HP:0001605	Vocal cord paralysis	8402	SLC25A11	ORPHA:29072
HP:0001605	Vocal cord paralysis	54949	SDHAF2	ORPHA:29072
HP:0001605	Vocal cord paralysis	54949	SDHAF2	OMIM:601650
HP:0001605	Vocal cord paralysis	55654	TMEM127	ORPHA:29072
HP:0001605	Vocal cord paralysis	4763	NF1	ORPHA:29072
HP:0001605	Vocal cord paralysis	6391	SDHC	ORPHA:29072
HP:0001605	Vocal cord paralysis	6391	SDHC	OMIM:605373
HP:0001605	Vocal cord paralysis	6392	SDHD	ORPHA:29072
HP:0001605	Vocal cord paralysis	6392	SDHD	ORPHA:276621
HP:0001605	Vocal cord paralysis	6392	SDHD	OMIM:168000
HP:0001605	Vocal cord paralysis	6390	SDHB	ORPHA:29072
HP:0001605	Vocal cord paralysis	6390	SDHB	ORPHA:276621
HP:0001605	Vocal cord paralysis	4149	MAX	ORPHA:29072
HP:0001605	Vocal cord paralysis	1639	DCTN1	OMIM:607641
HP:0001605	Vocal cord paralysis	1788	DNMT3A	ORPHA:276621
HP:0001605	Vocal cord paralysis	2034	EPAS1	ORPHA:276621
HP:0001605	Vocal cord paralysis	81846	SBF2	ORPHA:99956
HP:0001605	Vocal cord paralysis	4287	ATXN3	ORPHA:276244
HP:0001605	Vocal cord paralysis	4287	ATXN3	ORPHA:276241
HP:0001605	Vocal cord paralysis	4287	ATXN3	ORPHA:276238
HP:0001605	Vocal cord paralysis	2273	FHL1	ORPHA:98863
HP:0001605	Vocal cord paralysis	2010	EMD	ORPHA:98863
HP:0001605	Vocal cord paralysis	51112	TRAPPC12	ORPHA:500144
HP:0001605	Vocal cord paralysis	374879	ZNF699	OMIM:619488
HP:0001605	Vocal cord paralysis	4613	MYCN	OMIM:164280
HP:0001605	Vocal cord paralysis	113278	SLC52A3	OMIM:211530
HP:0001605	Vocal cord paralysis	9927	MFN2	ORPHA:99947
HP:0001605	Vocal cord paralysis	2006	ELN	OMIM:194050
HP:0001605	Vocal cord paralysis	51085	MLXIPL	OMIM:194050
HP:0001605	Vocal cord paralysis	26040	SETBP1	ORPHA:798
HP:0001605	Vocal cord paralysis	79188	TMEM43	ORPHA:98853
HP:0001605	Vocal cord paralysis	23345	SYNE1	ORPHA:98853
HP:0001605	Vocal cord paralysis	23224	SYNE2	ORPHA:98853
HP:0001605	Vocal cord paralysis	4000	LMNA	ORPHA:98853
HP:0001605	Vocal cord paralysis	5422	POLA1	OMIM:301030
HP:0001605	Vocal cord paralysis	23498	HAAO	OMIM:617660
HP:0001605	Vocal cord paralysis	667	DST	OMIM:614653
HP:0025691	Impaired fasting glucose	92482	BBIP1	ORPHA:110
HP:0025691	Impaired fasting glucose	80184	CEP290	ORPHA:110
HP:0025691	Impaired fasting glucose	11020	IFT27	ORPHA:110
HP:0025691	Impaired fasting glucose	582	BBS1	ORPHA:110
HP:0025691	Impaired fasting glucose	49855	SCAPER	ORPHA:110
HP:0025691	Impaired fasting glucose	4867	NPHP1	ORPHA:110
HP:0025691	Impaired fasting glucose	51057	WDPCP	ORPHA:110
HP:0025691	Impaired fasting glucose	132320	SCLT1	ORPHA:110
HP:0025691	Impaired fasting glucose	27241	BBS9	ORPHA:110
HP:0025691	Impaired fasting glucose	84984	CEP19	ORPHA:110
HP:0025691	Impaired fasting glucose	22954	TRIM32	ORPHA:110
HP:0025691	Impaired fasting glucose	54903	MKS1	ORPHA:110
HP:0025691	Impaired fasting glucose	79738	BBS10	ORPHA:110
HP:0025691	Impaired fasting glucose	123016	TTC8	ORPHA:110
HP:0025691	Impaired fasting glucose	26160	IFT172	ORPHA:110
HP:0025691	Impaired fasting glucose	583	BBS2	ORPHA:110
HP:0025691	Impaired fasting glucose	585	BBS4	ORPHA:110
HP:0025691	Impaired fasting glucose	8195	MKKS	ORPHA:110
HP:0025691	Impaired fasting glucose	54585	LZTFL1	ORPHA:110
HP:0025691	Impaired fasting glucose	55212	BBS7	ORPHA:110
HP:0025691	Impaired fasting glucose	166379	BBS12	ORPHA:110
HP:0025691	Impaired fasting glucose	10806	SDCCAG8	ORPHA:110
HP:0025691	Impaired fasting glucose	157657	CFAP418	ORPHA:110
HP:0025691	Impaired fasting glucose	84100	ARL6	ORPHA:110
HP:0025691	Impaired fasting glucose	129880	BBS5	ORPHA:110
HP:0025691	Impaired fasting glucose	80173	IFT74	ORPHA:110
HP:0025693	Pituitary macroadenoma	83550	GPR101	ORPHA:963
HP:0025693	Pituitary macroadenoma	9049	AIP	ORPHA:963
HP:0030991	Sclerosing cholangitis	9076	CLDN1	OMIM:607626
HP:0030991	Sclerosing cholangitis	5604	MAP2K1	ORPHA:389
HP:0030991	Sclerosing cholangitis	4893	NRAS	ORPHA:389
HP:0030991	Sclerosing cholangitis	673	BRAF	ORPHA:389
HP:0030991	Sclerosing cholangitis	81704	DOCK8	OMIM:243700
HP:0030991	Sclerosing cholangitis	5994	RFXAP	ORPHA:572
HP:0030991	Sclerosing cholangitis	4261	CIITA	ORPHA:572
HP:0030991	Sclerosing cholangitis	5993	RFX5	ORPHA:572
HP:0030991	Sclerosing cholangitis	8625	RFXANK	ORPHA:572
HP:0030991	Sclerosing cholangitis	8625	RFXANK	OMIM:620815
HP:0030991	Sclerosing cholangitis	5966	REL	OMIM:619652
HP:0030991	Sclerosing cholangitis	5244	ABCB4	ORPHA:69663
HP:0030991	Sclerosing cholangitis	51473	DCDC2	OMIM:617394
HP:0030991	Sclerosing cholangitis	113220	KIF12	OMIM:619662
HP:0030991	Sclerosing cholangitis	959	CD40LG	OMIM:308230
HP:0030992	Abnormal pancreatic duct morphology	11330	CTRC	ORPHA:103918
HP:0030992	Abnormal pancreatic duct morphology	6690	SPINK1	ORPHA:103918
HP:0030992	Abnormal pancreatic duct morphology	2317	FLNB	ORPHA:1190
HP:0030996	Megaduodenum	5885	RAD21	OMIM:611376
HP:0030996	Megaduodenum	4629	MYH11	OMIM:619350
HP:0030996	Megaduodenum	72	ACTG2	OMIM:155310
HP:0030997	Atretic vas deferens	6928	HNF1B	OMIM:137920
HP:0030998	Cerebrospinal fluid rhinorrhoea	3514	IGKC	ORPHA:183675
HP:0030998	Cerebrospinal fluid rhinorrhoea	3501	IGHG2	ORPHA:183675
HP:0004863	Compensated hemolytic anemia	2876	GPX1	OMIM:614164
HP:0004861	Refractory macrocytic anemia	6208	RPS14	OMIM:153550
HP:0004860	Thiamine-responsive megaloblastic anemia	10560	SLC19A2	OMIM:249270
HP:0001905	Congenital thrombocytopenia	6773	STAT2	OMIM:618886
HP:0001905	Congenital thrombocytopenia	4627	MYH9	ORPHA:182050
HP:0001905	Congenital thrombocytopenia	7454	WAS	OMIM:313900
HP:0001905	Congenital thrombocytopenia	2122	MECOM	OMIM:616738
HP:0001905	Congenital thrombocytopenia	2623	GATA1	OMIM:300367
HP:0001905	Congenital thrombocytopenia	3207	HOXA11	OMIM:605432
HP:0005527	Reduced kininogen activity	3827	KNG1	OMIM:228960
HP:0004866	Impaired ADP-induced platelet aggregation	861	RUNX1	OMIM:601399
HP:0004866	Impaired ADP-induced platelet aggregation	3690	ITGB3	OMIM:619271
HP:0004866	Impaired ADP-induced platelet aggregation	3690	ITGB3	OMIM:619267
HP:0004866	Impaired ADP-induced platelet aggregation	3690	ITGB3	ORPHA:849
HP:0004866	Impaired ADP-induced platelet aggregation	3674	ITGA2B	OMIM:273800
HP:0004866	Impaired ADP-induced platelet aggregation	3674	ITGA2B	ORPHA:849
HP:0004866	Impaired ADP-induced platelet aggregation	64376	IKZF5	OMIM:619130
HP:0004866	Impaired ADP-induced platelet aggregation	4627	MYH9	OMIM:155100
HP:0004866	Impaired ADP-induced platelet aggregation	2811	GP1BA	OMIM:153670
HP:0004866	Impaired ADP-induced platelet aggregation	10019	SH2B3	OMIM:187950
HP:0004866	Impaired ADP-induced platelet aggregation	811	CALR	OMIM:187950
HP:0004866	Impaired ADP-induced platelet aggregation	7066	THPO	OMIM:187950
HP:0004866	Impaired ADP-induced platelet aggregation	11234	HPS5	OMIM:614074
HP:0004866	Impaired ADP-induced platelet aggregation	87	ACTN1	OMIM:615193
HP:0004866	Impaired ADP-induced platelet aggregation	2313	FLI1	OMIM:617443
HP:0004866	Impaired ADP-induced platelet aggregation	79803	HPS6	OMIM:614075
HP:0004866	Impaired ADP-induced platelet aggregation	2048	EPHB2	OMIM:618462
HP:0004866	Impaired ADP-induced platelet aggregation	10235	RASGRP2	OMIM:615888
HP:0004866	Impaired ADP-induced platelet aggregation	64805	P2RY12	OMIM:609821
HP:0004866	Impaired ADP-induced platelet aggregation	7171	TPM4	OMIM:620486
HP:0004866	Impaired ADP-induced platelet aggregation	8546	AP3B1	OMIM:608233
HP:0001609	Hoarse voice	65992	DDRGK1	OMIM:602557
HP:0001609	Hoarse voice	65992	DDRGK1	ORPHA:93352
HP:0001609	Hoarse voice	8036	SHOC2	OMIM:607721
HP:0001609	Hoarse voice	3852	KRT5	OMIM:131760
HP:0001609	Hoarse voice	3852	KRT5	ORPHA:79396
HP:0001609	Hoarse voice	3861	KRT14	OMIM:131760
HP:0001609	Hoarse voice	3861	KRT14	ORPHA:79396
HP:0001609	Hoarse voice	9782	MATR3	OMIM:606070
HP:0001609	Hoarse voice	9782	MATR3	ORPHA:600
HP:0001609	Hoarse voice	3909	LAMA3	ORPHA:79404
HP:0001609	Hoarse voice	3918	LAMC2	ORPHA:79404
HP:0001609	Hoarse voice	3914	LAMB3	ORPHA:79404
HP:0001609	Hoarse voice	2334	AFF2	ORPHA:100973
HP:0001609	Hoarse voice	2334	AFF2	OMIM:309548
HP:0001609	Hoarse voice	79577	CDC73	ORPHA:143
HP:0001609	Hoarse voice	4281	MID1	OMIM:300000
HP:0001609	Hoarse voice	7200	TRH	OMIM:275120
HP:0001609	Hoarse voice	2314	FLII	ORPHA:819
HP:0001609	Hoarse voice	23096	IQSEC2	ORPHA:819
HP:0001609	Hoarse voice	23096	IQSEC2	ORPHA:217377
HP:0001609	Hoarse voice	10743	RAI1	ORPHA:819
HP:0001609	Hoarse voice	10743	RAI1	OMIM:182290
HP:0001609	Hoarse voice	10522	DEAF1	ORPHA:819
HP:0001609	Hoarse voice	3872	KRT17	OMIM:167210
HP:0001609	Hoarse voice	3872	KRT17	ORPHA:2309
HP:0001609	Hoarse voice	710	SERPING1	ORPHA:100050
HP:0001609	Hoarse voice	79158	GNPTAB	OMIM:252500
HP:0001609	Hoarse voice	79158	GNPTAB	ORPHA:576
HP:0001609	Hoarse voice	79158	GNPTAB	ORPHA:423461
HP:0001609	Hoarse voice	176	ACAN	OMIM:612813
HP:0001609	Hoarse voice	176	ACAN	ORPHA:171866
HP:0001609	Hoarse voice	7252	TSHB	ORPHA:90674
HP:0001609	Hoarse voice	6391	SDHC	OMIM:605373
HP:0001609	Hoarse voice	54332	GDAP1	OMIM:607706
HP:0001609	Hoarse voice	54332	GDAP1	ORPHA:101097
HP:0001609	Hoarse voice	54332	GDAP1	ORPHA:99948
HP:0001609	Hoarse voice	427	ASAH1	ORPHA:333
HP:0001609	Hoarse voice	427	ASAH1	OMIM:228000
HP:0001609	Hoarse voice	427	ASAH1	ORPHA:2590
HP:0001609	Hoarse voice	1896	EDA	OMIM:305100
HP:0001609	Hoarse voice	57492	ARID1B	OMIM:135900
HP:0001609	Hoarse voice	10560	SLC19A2	OMIM:249270
HP:0001609	Hoarse voice	5530	PPP3CA	OMIM:617711
HP:0001609	Hoarse voice	22861	NLRP1	OMIM:618803
HP:0001609	Hoarse voice	3423	IDS	ORPHA:217085
HP:0001609	Hoarse voice	3423	IDS	ORPHA:217093
HP:0001609	Hoarse voice	3423	IDS	OMIM:309900
HP:0001609	Hoarse voice	2200	FBN1	ORPHA:969
HP:0001609	Hoarse voice	2200	FBN1	OMIM:102370
HP:0001609	Hoarse voice	4054	LTBP3	ORPHA:969
HP:0001609	Hoarse voice	4054	LTBP3	OMIM:617809
HP:0001609	Hoarse voice	83550	GPR101	ORPHA:963
HP:0001609	Hoarse voice	9049	AIP	ORPHA:963
HP:0001609	Hoarse voice	7849	PAX8	ORPHA:95712
HP:0001609	Hoarse voice	1482	NKX2-5	ORPHA:95712
HP:0001609	Hoarse voice	23111	SPART	ORPHA:101000
HP:0001609	Hoarse voice	57190	SELENON	ORPHA:2020
HP:0001609	Hoarse voice	58	ACTA1	ORPHA:2020
HP:0001609	Hoarse voice	4633	MYL2	ORPHA:2020
HP:0001609	Hoarse voice	3679	ITGA7	ORPHA:2020
HP:0001609	Hoarse voice	7169	TPM2	ORPHA:2020
HP:0001609	Hoarse voice	9200	HACD1	ORPHA:2020
HP:0001609	Hoarse voice	7170	TPM3	ORPHA:2020
HP:0001609	Hoarse voice	51776	MAP3K20	ORPHA:2020
HP:0001609	Hoarse voice	3977	LIFR	OMIM:601559
HP:0001609	Hoarse voice	7067	THRA	OMIM:614450
HP:0001609	Hoarse voice	175	AGA	OMIM:208400
HP:0001609	Hoarse voice	6392	SDHD	OMIM:168000
HP:0001609	Hoarse voice	3265	HRAS	OMIM:218040
HP:0001609	Hoarse voice	3868	KRT16	ORPHA:2309
HP:0001609	Hoarse voice	3853	KRT6A	ORPHA:2309
HP:0001609	Hoarse voice	3854	KRT6B	ORPHA:2309
HP:0001609	Hoarse voice	2239	GPC4	ORPHA:2662
HP:0001609	Hoarse voice	2239	GPC4	ORPHA:373
HP:0001609	Hoarse voice	3981	LIG4	ORPHA:235
HP:0001609	Hoarse voice	54888	NSUN2	ORPHA:235
HP:0001609	Hoarse voice	79784	MYH14	ORPHA:397744
HP:0001609	Hoarse voice	79784	MYH14	OMIM:614369
HP:0001609	Hoarse voice	6711	SPTBN1	OMIM:619475
HP:0001609	Hoarse voice	6804	STX1A	ORPHA:904
HP:0001609	Hoarse voice	7461	CLIP2	ORPHA:904
HP:0001609	Hoarse voice	84277	DNAJC30	ORPHA:904
HP:0001609	Hoarse voice	8468	FKBP6	ORPHA:904
HP:0001609	Hoarse voice	5982	RFC2	ORPHA:904
HP:0001609	Hoarse voice	2969	GTF2I	ORPHA:904
HP:0001609	Hoarse voice	3984	LIMK1	ORPHA:904
HP:0001609	Hoarse voice	9569	GTF2IRD1	ORPHA:904
HP:0001609	Hoarse voice	155382	VPS37D	ORPHA:904
HP:0001609	Hoarse voice	155368	METTL27	ORPHA:904
HP:0001609	Hoarse voice	114049	BUD23	ORPHA:904
HP:0001609	Hoarse voice	7458	EIF4H	ORPHA:904
HP:0001609	Hoarse voice	84163	GTF2IRD2	ORPHA:904
HP:0001609	Hoarse voice	26608	TBL2	ORPHA:904
HP:0001609	Hoarse voice	653361	NCF1	ORPHA:904
HP:0001609	Hoarse voice	135886	TMEM270	ORPHA:904
HP:0001609	Hoarse voice	9031	BAZ1B	ORPHA:904
HP:0001609	Hoarse voice	2006	ELN	ORPHA:904
HP:0001609	Hoarse voice	2006	ELN	OMIM:194050
HP:0001609	Hoarse voice	54949	SDHAF2	OMIM:601650
HP:0001609	Hoarse voice	715	C1R	OMIM:130080
HP:0001609	Hoarse voice	1836	SLC26A2	OMIM:222600
HP:0001609	Hoarse voice	5594	MAPK1	OMIM:619087
HP:0001609	Hoarse voice	4780	NFE2L2	OMIM:617744
HP:0001609	Hoarse voice	51085	MLXIPL	OMIM:194050
HP:0001609	Hoarse voice	1893	ECM1	ORPHA:530
HP:0001609	Hoarse voice	1893	ECM1	OMIM:247100
HP:0001609	Hoarse voice	2719	GPC3	ORPHA:373
HP:0001609	Hoarse voice	6611	SMS	OMIM:309583
HP:0001609	Hoarse voice	5449	POU1F1	OMIM:613038
HP:0001609	Hoarse voice	10020	GNE	ORPHA:3166
HP:0001609	Hoarse voice	7201	TRHR	ORPHA:99832
HP:0001609	Hoarse voice	64324	NSD1	ORPHA:3447
HP:0001609	Hoarse voice	23512	SUZ12	ORPHA:3447
HP:0001609	Hoarse voice	2146	EZH2	ORPHA:3447
HP:0001609	Hoarse voice	11011	TLK2	OMIM:618050
HP:0001609	Hoarse voice	23102	TBC1D2B	ORPHA:397973
HP:0001609	Hoarse voice	2316	FLNA	OMIM:309350
HP:0001609	Hoarse voice	335	APOA1	OMIM:620657
HP:0001609	Hoarse voice	10535	RNASEH2A	ORPHA:51
HP:0001609	Hoarse voice	84153	RNASEH2C	ORPHA:51
HP:0001609	Hoarse voice	25939	SAMHD1	ORPHA:51
HP:0001609	Hoarse voice	79621	RNASEH2B	ORPHA:51
HP:0001609	Hoarse voice	103	ADAR	ORPHA:51
HP:0001609	Hoarse voice	11277	TREX1	ORPHA:51
HP:0001609	Hoarse voice	100147744	RNU7-1	ORPHA:51
HP:0001609	Hoarse voice	134353	LSM11	ORPHA:51
HP:0001609	Hoarse voice	64135	IFIH1	ORPHA:51
HP:0001609	Hoarse voice	9927	MFN2	ORPHA:99947
HP:0001609	Hoarse voice	23592	LEMD3	OMIM:166700
HP:0001609	Hoarse voice	59341	TRPV4	OMIM:181405
HP:0001609	Hoarse voice	23556	PIGN	ORPHA:280633
HP:0001609	Hoarse voice	8425	LTBP4	OMIM:613177
HP:0001609	Hoarse voice	50506	DUOX2	ORPHA:226316
HP:0001609	Hoarse voice	7080	NKX2-1	ORPHA:95713
HP:0001609	Hoarse voice	2304	FOXE1	ORPHA:95713
HP:0001609	Hoarse voice	7253	TSHR	ORPHA:95713
HP:0001609	Hoarse voice	5172	SLC26A4	ORPHA:95713
HP:0001609	Hoarse voice	388015	RTL1	ORPHA:96334
HP:0001609	Hoarse voice	8788	DLK1	ORPHA:96334
HP:0001609	Hoarse voice	55384	MEG3	ORPHA:96334
HP:0001608	Abnormality of the voice	9361	LONP1	OMIM:600373
HP:0001608	Abnormality of the voice	182	JAG1	OMIM:619574
HP:0001608	Abnormality of the voice	57716	PRX	OMIM:614895
HP:0001608	Abnormality of the voice	79628	SH3TC2	ORPHA:99949
HP:0001608	Abnormality of the voice	10755	GIPC1	ORPHA:98897
HP:0001608	Abnormality of the voice	100996717	NOTCH2NLC	ORPHA:98897
HP:0001608	Abnormality of the voice	7125	TNNC2	OMIM:620161
HP:0001608	Abnormality of the voice	9997	SCO2	OMIM:604377
HP:0001608	Abnormality of the voice	23321	TRIM2	OMIM:615490
HP:0001608	Abnormality of the voice	112	ADCY6	OMIM:616287
HP:0001608	Abnormality of the voice	22943	DKK1	ORPHA:268882
HP:0001608	Abnormality of the voice	816	CAMK2B	OMIM:617799
HP:0001608	Abnormality of the voice	2010	EMD	ORPHA:98863
HP:0001608	Abnormality of the voice	51112	TRAPPC12	ORPHA:500144
HP:0001608	Abnormality of the voice	4613	MYCN	OMIM:164280
HP:0001608	Abnormality of the voice	26040	SETBP1	ORPHA:798
HP:0001608	Abnormality of the voice	79188	TMEM43	ORPHA:98853
HP:0001608	Abnormality of the voice	23345	SYNE1	ORPHA:98853
HP:0001608	Abnormality of the voice	23224	SYNE2	ORPHA:98853
HP:0001608	Abnormality of the voice	2260	FGFR1	ORPHA:432
HP:0001608	Abnormality of the voice	2260	FGFR1	ORPHA:478
HP:0001608	Abnormality of the voice	81848	SPRY4	ORPHA:432
HP:0001608	Abnormality of the voice	81848	SPRY4	ORPHA:478
HP:0001608	Abnormality of the voice	128674	PROKR2	ORPHA:432
HP:0001608	Abnormality of the voice	128674	PROKR2	ORPHA:478
HP:0001608	Abnormality of the voice	2253	FGF8	ORPHA:432
HP:0001608	Abnormality of the voice	2253	FGF8	ORPHA:478
HP:0001608	Abnormality of the voice	60675	PROK2	ORPHA:432
HP:0001608	Abnormality of the voice	60675	PROK2	ORPHA:478
HP:0001608	Abnormality of the voice	55636	CHD7	ORPHA:432
HP:0001608	Abnormality of the voice	55636	CHD7	ORPHA:478
HP:0001608	Abnormality of the voice	6870	TACR3	ORPHA:432
HP:0001608	Abnormality of the voice	6870	TACR3	ORPHA:478
HP:0001608	Abnormality of the voice	1848	DUSP6	ORPHA:432
HP:0001608	Abnormality of the voice	1848	DUSP6	ORPHA:478
HP:0001608	Abnormality of the voice	26012	NSMF	ORPHA:432
HP:0001608	Abnormality of the voice	55717	WDR11	ORPHA:432
HP:0001608	Abnormality of the voice	55717	WDR11	ORPHA:478
HP:0001608	Abnormality of the voice	4808	NHLH2	ORPHA:432
HP:0001608	Abnormality of the voice	9394	HS6ST1	ORPHA:432
HP:0001608	Abnormality of the voice	9394	HS6ST1	ORPHA:478
HP:0001608	Abnormality of the voice	2796	GNRH1	ORPHA:432
HP:0001608	Abnormality of the voice	2798	GNRHR	ORPHA:432
HP:0001608	Abnormality of the voice	84634	KISS1R	ORPHA:432
HP:0001608	Abnormality of the voice	6866	TAC3	ORPHA:432
HP:0001608	Abnormality of the voice	8822	FGF17	ORPHA:432
HP:0001608	Abnormality of the voice	8822	FGF17	ORPHA:478
HP:0001608	Abnormality of the voice	3814	KISS1	ORPHA:432
HP:0001608	Abnormality of the voice	10491	CRTAP	ORPHA:2050
HP:0001608	Abnormality of the voice	9871	SEC24D	ORPHA:2050
HP:0001608	Abnormality of the voice	5034	P4HB	ORPHA:2050
HP:0001608	Abnormality of the voice	6804	STX1A	ORPHA:904
HP:0001608	Abnormality of the voice	7461	CLIP2	ORPHA:904
HP:0001608	Abnormality of the voice	84277	DNAJC30	ORPHA:904
HP:0001608	Abnormality of the voice	8468	FKBP6	ORPHA:904
HP:0001608	Abnormality of the voice	5982	RFC2	ORPHA:904
HP:0001608	Abnormality of the voice	2969	GTF2I	ORPHA:904
HP:0001608	Abnormality of the voice	3984	LIMK1	ORPHA:904
HP:0001608	Abnormality of the voice	9569	GTF2IRD1	ORPHA:904
HP:0001608	Abnormality of the voice	155382	VPS37D	ORPHA:904
HP:0001608	Abnormality of the voice	155368	METTL27	ORPHA:904
HP:0001608	Abnormality of the voice	114049	BUD23	ORPHA:904
HP:0001608	Abnormality of the voice	7458	EIF4H	ORPHA:904
HP:0001608	Abnormality of the voice	84163	GTF2IRD2	ORPHA:904
HP:0001608	Abnormality of the voice	26608	TBL2	ORPHA:904
HP:0001608	Abnormality of the voice	653361	NCF1	ORPHA:904
HP:0001608	Abnormality of the voice	135886	TMEM270	ORPHA:904
HP:0001608	Abnormality of the voice	9031	BAZ1B	ORPHA:904
HP:0001608	Abnormality of the voice	2006	ELN	ORPHA:904
HP:0001608	Abnormality of the voice	6049	RNF6	ORPHA:99977
HP:0001608	Abnormality of the voice	7048	TGFBR2	ORPHA:99977
HP:0001608	Abnormality of the voice	51741	WWOX	ORPHA:99977
HP:0001608	Abnormality of the voice	9940	DLEC1	ORPHA:99977
HP:0001608	Abnormality of the voice	6329	SCN4A	ORPHA:99735
HP:0001608	Abnormality of the voice	7486	WRN	ORPHA:902
HP:0001608	Abnormality of the voice	148789	B3GALNT2	ORPHA:588
HP:0001608	Abnormality of the voice	29925	GMPPB	ORPHA:588
HP:0001608	Abnormality of the voice	79147	FKRP	ORPHA:588
HP:0001608	Abnormality of the voice	9215	LARGE1	ORPHA:588
HP:0001608	Abnormality of the voice	29954	POMT2	ORPHA:588
HP:0001608	Abnormality of the voice	2218	FKTN	ORPHA:588
HP:0001608	Abnormality of the voice	729920	CRPPA	ORPHA:588
HP:0001608	Abnormality of the voice	55624	POMGNT1	ORPHA:588
HP:0001608	Abnormality of the voice	10585	POMT1	ORPHA:588
HP:0001608	Abnormality of the voice	5781	PTPN11	ORPHA:500
HP:0001608	Abnormality of the voice	673	BRAF	ORPHA:500
HP:0001608	Abnormality of the voice	5894	RAF1	ORPHA:500
HP:0001608	Abnormality of the voice	6452	SH3BP2	ORPHA:184
HP:0001608	Abnormality of the voice	7259	TSPYL1	OMIM:608800
HP:0001608	Abnormality of the voice	7259	TSPYL1	ORPHA:168593
HP:0001608	Abnormality of the voice	6716	SRD5A2	OMIM:264600
HP:0001608	Abnormality of the voice	4089	SMAD4	OMIM:139210
HP:0001608	Abnormality of the voice	51114	ZDHHC9	ORPHA:776
HP:0001608	Abnormality of the voice	65109	UPF3B	ORPHA:776
HP:0001608	Abnormality of the voice	9968	MED12	ORPHA:776
HP:0001608	Abnormality of the voice	4952	OCRL	ORPHA:534
HP:0001608	Abnormality of the voice	5610	EIF2AK2	ORPHA:256
HP:0001608	Abnormality of the voice	1861	TOR1A	ORPHA:256
HP:0001608	Abnormality of the voice	55164	SHQ1	ORPHA:256
HP:0001608	Abnormality of the voice	114548	NLRP3	ORPHA:575
HP:0001608	Abnormality of the voice	5980	REV3L	ORPHA:570
HP:0001608	Abnormality of the voice	23129	PLXND1	ORPHA:570
HP:0001608	Abnormality of the voice	2239	GPC4	ORPHA:373
HP:0001608	Abnormality of the voice	2719	GPC3	ORPHA:373
HP:0001608	Abnormality of the voice	5376	PMP22	ORPHA:640
HP:0001608	Abnormality of the voice	1501	CTNND2	ORPHA:281
HP:0001608	Abnormality of the voice	9037	SEMA5A	ORPHA:281
HP:0001608	Abnormality of the voice	9775	EIF4A3	OMIM:268305
HP:0001608	Abnormality of the voice	4853	NOTCH2	ORPHA:955
HP:0001608	Abnormality of the voice	4000	LMNA	ORPHA:79474
HP:0001608	Abnormality of the voice	10371	SEMA3A	ORPHA:478
HP:0001608	Abnormality of the voice	23767	FLRT3	ORPHA:478
HP:0001608	Abnormality of the voice	79625	NDNF	ORPHA:478
HP:0001608	Abnormality of the voice	389549	FEZF1	ORPHA:478
HP:0001608	Abnormality of the voice	1630	DCC	ORPHA:478
HP:0001608	Abnormality of the voice	3730	ANOS1	ORPHA:478
HP:0001608	Abnormality of the voice	54756	IL17RD	ORPHA:478
HP:0001608	Abnormality of the voice	6663	SOX10	ORPHA:478
HP:0001608	Abnormality of the voice	285025	CCDC141	ORPHA:478
HP:0001608	Abnormality of the voice	8820	HESX1	ORPHA:478
HP:0001608	Abnormality of the voice	65992	DDRGK1	OMIM:602557
HP:0001608	Abnormality of the voice	65992	DDRGK1	ORPHA:93352
HP:0001608	Abnormality of the voice	8036	SHOC2	OMIM:607721
HP:0001608	Abnormality of the voice	3852	KRT5	OMIM:131760
HP:0001608	Abnormality of the voice	3852	KRT5	ORPHA:79396
HP:0001608	Abnormality of the voice	3861	KRT14	OMIM:131760
HP:0001608	Abnormality of the voice	3861	KRT14	ORPHA:79396
HP:0001608	Abnormality of the voice	9782	MATR3	OMIM:606070
HP:0001608	Abnormality of the voice	9782	MATR3	ORPHA:600
HP:0001608	Abnormality of the voice	3909	LAMA3	ORPHA:79404
HP:0001608	Abnormality of the voice	3918	LAMC2	ORPHA:79404
HP:0001608	Abnormality of the voice	3914	LAMB3	ORPHA:79404
HP:0001608	Abnormality of the voice	2334	AFF2	ORPHA:100973
HP:0001608	Abnormality of the voice	2334	AFF2	OMIM:309548
HP:0001608	Abnormality of the voice	79577	CDC73	ORPHA:143
HP:0001608	Abnormality of the voice	4281	MID1	OMIM:300000
HP:0001608	Abnormality of the voice	7200	TRH	OMIM:275120
HP:0001608	Abnormality of the voice	2314	FLII	ORPHA:819
HP:0001608	Abnormality of the voice	23096	IQSEC2	ORPHA:819
HP:0001608	Abnormality of the voice	23096	IQSEC2	ORPHA:217377
HP:0001608	Abnormality of the voice	10743	RAI1	ORPHA:819
HP:0001608	Abnormality of the voice	10743	RAI1	OMIM:182290
HP:0001608	Abnormality of the voice	10522	DEAF1	ORPHA:819
HP:0001608	Abnormality of the voice	3872	KRT17	OMIM:167210
HP:0001608	Abnormality of the voice	3872	KRT17	ORPHA:2309
HP:0001608	Abnormality of the voice	710	SERPING1	ORPHA:100050
HP:0001608	Abnormality of the voice	79158	GNPTAB	OMIM:252500
HP:0001608	Abnormality of the voice	79158	GNPTAB	ORPHA:576
HP:0001608	Abnormality of the voice	79158	GNPTAB	ORPHA:423461
HP:0001608	Abnormality of the voice	176	ACAN	OMIM:612813
HP:0001608	Abnormality of the voice	176	ACAN	ORPHA:171866
HP:0001608	Abnormality of the voice	7252	TSHB	ORPHA:90674
HP:0001608	Abnormality of the voice	6391	SDHC	OMIM:605373
HP:0001608	Abnormality of the voice	54332	GDAP1	OMIM:607706
HP:0001608	Abnormality of the voice	54332	GDAP1	ORPHA:101097
HP:0001608	Abnormality of the voice	54332	GDAP1	ORPHA:99948
HP:0001608	Abnormality of the voice	427	ASAH1	ORPHA:333
HP:0001608	Abnormality of the voice	427	ASAH1	OMIM:228000
HP:0001608	Abnormality of the voice	427	ASAH1	ORPHA:2590
HP:0001608	Abnormality of the voice	1896	EDA	OMIM:305100
HP:0001608	Abnormality of the voice	57492	ARID1B	OMIM:135900
HP:0001608	Abnormality of the voice	10560	SLC19A2	OMIM:249270
HP:0001608	Abnormality of the voice	5530	PPP3CA	OMIM:617711
HP:0001608	Abnormality of the voice	22861	NLRP1	OMIM:618803
HP:0001608	Abnormality of the voice	3423	IDS	ORPHA:217085
HP:0001608	Abnormality of the voice	3423	IDS	ORPHA:217093
HP:0001608	Abnormality of the voice	3423	IDS	OMIM:309900
HP:0001608	Abnormality of the voice	2200	FBN1	ORPHA:969
HP:0001608	Abnormality of the voice	2200	FBN1	OMIM:102370
HP:0001608	Abnormality of the voice	4054	LTBP3	ORPHA:969
HP:0001608	Abnormality of the voice	4054	LTBP3	OMIM:617809
HP:0001608	Abnormality of the voice	83550	GPR101	ORPHA:963
HP:0001608	Abnormality of the voice	9049	AIP	ORPHA:963
HP:0001608	Abnormality of the voice	7849	PAX8	ORPHA:95712
HP:0001608	Abnormality of the voice	1482	NKX2-5	ORPHA:95712
HP:0001608	Abnormality of the voice	23111	SPART	ORPHA:101000
HP:0001608	Abnormality of the voice	57190	SELENON	ORPHA:2020
HP:0001608	Abnormality of the voice	58	ACTA1	ORPHA:2020
HP:0001608	Abnormality of the voice	4633	MYL2	ORPHA:2020
HP:0001608	Abnormality of the voice	3679	ITGA7	ORPHA:2020
HP:0001608	Abnormality of the voice	7169	TPM2	ORPHA:2020
HP:0001608	Abnormality of the voice	9200	HACD1	ORPHA:2020
HP:0001608	Abnormality of the voice	7170	TPM3	ORPHA:2020
HP:0001608	Abnormality of the voice	51776	MAP3K20	ORPHA:2020
HP:0001608	Abnormality of the voice	3977	LIFR	OMIM:601559
HP:0001608	Abnormality of the voice	7067	THRA	OMIM:614450
HP:0001608	Abnormality of the voice	175	AGA	OMIM:208400
HP:0001608	Abnormality of the voice	6392	SDHD	OMIM:168000
HP:0001608	Abnormality of the voice	3265	HRAS	OMIM:218040
HP:0001608	Abnormality of the voice	3868	KRT16	ORPHA:2309
HP:0001608	Abnormality of the voice	3853	KRT6A	ORPHA:2309
HP:0001608	Abnormality of the voice	3854	KRT6B	ORPHA:2309
HP:0001608	Abnormality of the voice	3981	LIG4	ORPHA:235
HP:0001608	Abnormality of the voice	54888	NSUN2	ORPHA:235
HP:0001608	Abnormality of the voice	79784	MYH14	ORPHA:397744
HP:0001608	Abnormality of the voice	79784	MYH14	OMIM:614369
HP:0001608	Abnormality of the voice	6711	SPTBN1	OMIM:619475
HP:0001608	Abnormality of the voice	54949	SDHAF2	OMIM:601650
HP:0001608	Abnormality of the voice	715	C1R	OMIM:130080
HP:0001608	Abnormality of the voice	1836	SLC26A2	OMIM:222600
HP:0001608	Abnormality of the voice	5594	MAPK1	OMIM:619087
HP:0001608	Abnormality of the voice	4780	NFE2L2	OMIM:617744
HP:0001608	Abnormality of the voice	51085	MLXIPL	OMIM:194050
HP:0001608	Abnormality of the voice	1893	ECM1	ORPHA:530
HP:0001608	Abnormality of the voice	1893	ECM1	OMIM:247100
HP:0001608	Abnormality of the voice	6611	SMS	OMIM:309583
HP:0001608	Abnormality of the voice	5449	POU1F1	OMIM:613038
HP:0001608	Abnormality of the voice	10020	GNE	ORPHA:3166
HP:0001608	Abnormality of the voice	7201	TRHR	ORPHA:99832
HP:0001608	Abnormality of the voice	64324	NSD1	ORPHA:3447
HP:0001608	Abnormality of the voice	23512	SUZ12	ORPHA:3447
HP:0001608	Abnormality of the voice	2146	EZH2	ORPHA:3447
HP:0001608	Abnormality of the voice	11011	TLK2	OMIM:618050
HP:0001608	Abnormality of the voice	23102	TBC1D2B	ORPHA:397973
HP:0001608	Abnormality of the voice	2316	FLNA	OMIM:309350
HP:0001608	Abnormality of the voice	335	APOA1	OMIM:620657
HP:0001608	Abnormality of the voice	10535	RNASEH2A	ORPHA:51
HP:0001608	Abnormality of the voice	84153	RNASEH2C	ORPHA:51
HP:0001608	Abnormality of the voice	25939	SAMHD1	ORPHA:51
HP:0001608	Abnormality of the voice	79621	RNASEH2B	ORPHA:51
HP:0001608	Abnormality of the voice	103	ADAR	ORPHA:51
HP:0001608	Abnormality of the voice	11277	TREX1	ORPHA:51
HP:0001608	Abnormality of the voice	100147744	RNU7-1	ORPHA:51
HP:0001608	Abnormality of the voice	134353	LSM11	ORPHA:51
HP:0001608	Abnormality of the voice	64135	IFIH1	ORPHA:51
HP:0001608	Abnormality of the voice	9927	MFN2	ORPHA:99947
HP:0001608	Abnormality of the voice	23592	LEMD3	OMIM:166700
HP:0001608	Abnormality of the voice	59341	TRPV4	OMIM:181405
HP:0001608	Abnormality of the voice	4487	MSX1	ORPHA:141291
HP:0001608	Abnormality of the voice	4487	MSX1	ORPHA:199306
HP:0001608	Abnormality of the voice	5818	NECTIN1	ORPHA:141291
HP:0001608	Abnormality of the voice	5818	NECTIN1	ORPHA:199306
HP:0001608	Abnormality of the voice	8626	TP63	ORPHA:141291
HP:0001608	Abnormality of the voice	8626	TP63	ORPHA:199306
HP:0001608	Abnormality of the voice	3664	IRF6	ORPHA:141291
HP:0001608	Abnormality of the voice	3664	IRF6	ORPHA:199306
HP:0001608	Abnormality of the voice	353116	RILPL1	OMIM:619790
HP:0001608	Abnormality of the voice	4621	MYH3	ORPHA:2053
HP:0001608	Abnormality of the voice	4621	MYH3	OMIM:193700
HP:0001608	Abnormality of the voice	259232	NALCN	ORPHA:2053
HP:0001608	Abnormality of the voice	4593	MUSK	OMIM:616325
HP:0001608	Abnormality of the voice	29926	GMPPA	OMIM:615510
HP:0001608	Abnormality of the voice	29926	GMPPA	ORPHA:869
HP:0001608	Abnormality of the voice	79912	PYROXD1	OMIM:617258
HP:0001608	Abnormality of the voice	6418	SET	OMIM:618106
HP:0001608	Abnormality of the voice	90459	ERI1	OMIM:620663
HP:0001608	Abnormality of the voice	6571	SLC18A2	ORPHA:352649
HP:0001608	Abnormality of the voice	6571	SLC18A2	OMIM:618049
HP:0001608	Abnormality of the voice	100033413	SNORD116-1	OMIM:176270
HP:0001608	Abnormality of the voice	8924	HERC2	OMIM:176270
HP:0001608	Abnormality of the voice	23742	NPAP1	OMIM:176270
HP:0001608	Abnormality of the voice	338433	SNORD115-1	OMIM:176270
HP:0001608	Abnormality of the voice	54551	MAGEL2	OMIM:176270
HP:0001608	Abnormality of the voice	7681	MKRN3	OMIM:176270
HP:0001608	Abnormality of the voice	145624	PWAR1	OMIM:176270
HP:0001608	Abnormality of the voice	3653	IPW	OMIM:176270
HP:0001608	Abnormality of the voice	791114	PWRN1	OMIM:176270
HP:0001608	Abnormality of the voice	5339	PLEC	ORPHA:254361
HP:0001608	Abnormality of the voice	6687	SPG7	ORPHA:99013
HP:0001608	Abnormality of the voice	7314	UBB	ORPHA:99772
HP:0001608	Abnormality of the voice	7314	UBB	ORPHA:155878
HP:0001608	Abnormality of the voice	57822	GRHL3	ORPHA:99772
HP:0001608	Abnormality of the voice	57822	GRHL3	ORPHA:155878
HP:0001608	Abnormality of the voice	4854	NOTCH3	OMIM:130720
HP:0001608	Abnormality of the voice	92667	MGME1	OMIM:615084
HP:0001608	Abnormality of the voice	92667	MGME1	ORPHA:352447
HP:0001608	Abnormality of the voice	57589	RIC1	ORPHA:199306
HP:0001608	Abnormality of the voice	1739	DLG1	ORPHA:199306
HP:0001608	Abnormality of the voice	999	CDH1	ORPHA:199306
HP:0001608	Abnormality of the voice	5156	PDGFRA	ORPHA:199306
HP:0001608	Abnormality of the voice	1748	DLX4	ORPHA:199306
HP:0001608	Abnormality of the voice	652	BMP4	ORPHA:199306
HP:0001608	Abnormality of the voice	22837	COBLL1	ORPHA:199306
HP:0001608	Abnormality of the voice	54848	ARHGEF38	ORPHA:199306
HP:0001608	Abnormality of the voice	9411	ARHGAP29	ORPHA:199306
HP:0001608	Abnormality of the voice	84466	MEGF10	OMIM:614399
HP:0001608	Abnormality of the voice	84466	MEGF10	OMIM:620249
HP:0001608	Abnormality of the voice	10847	SRCAP	ORPHA:2044
HP:0001608	Abnormality of the voice	84665	MYPN	ORPHA:171881
HP:0001608	Abnormality of the voice	146862	UNC45B	OMIM:619178
HP:0001608	Abnormality of the voice	23545	ATP6V0A2	ORPHA:2834
HP:0001608	Abnormality of the voice	23545	ATP6V0A2	OMIM:278250
HP:0001608	Abnormality of the voice	29967	LRP12	OMIM:164310
HP:0001608	Abnormality of the voice	1312	COMT	ORPHA:567
HP:0001608	Abnormality of the voice	221037	JMJD1C	ORPHA:567
HP:0001608	Abnormality of the voice	2812	GP1BB	ORPHA:567
HP:0001608	Abnormality of the voice	6239	RREB1	ORPHA:567
HP:0001608	Abnormality of the voice	6899	TBX1	ORPHA:567
HP:0001608	Abnormality of the voice	6899	TBX1	OMIM:188400
HP:0001608	Abnormality of the voice	6899	TBX1	ORPHA:1727
HP:0001608	Abnormality of the voice	6899	TBX1	OMIM:192430
HP:0001608	Abnormality of the voice	7290	HIRA	ORPHA:567
HP:0001608	Abnormality of the voice	9632	SEC24C	ORPHA:567
HP:0001608	Abnormality of the voice	7353	UFD1	ORPHA:567
HP:0001608	Abnormality of the voice	421	ARVCF	ORPHA:567
HP:0001608	Abnormality of the voice	7020	TFAP2A	OMIM:113620
HP:0001608	Abnormality of the voice	7020	TFAP2A	ORPHA:1297
HP:0001608	Abnormality of the voice	1781	DYNC1I2	OMIM:618492
HP:0001608	Abnormality of the voice	127833	SYT2	OMIM:619461
HP:0001608	Abnormality of the voice	127833	SYT2	ORPHA:98914
HP:0001608	Abnormality of the voice	9731	CEP104	OMIM:619988
HP:0001608	Abnormality of the voice	6638	SNRPN	ORPHA:177907
HP:0001608	Abnormality of the voice	9531	BAG3	OMIM:612954
HP:0001608	Abnormality of the voice	9244	CRLF1	OMIM:272430
HP:0001608	Abnormality of the voice	6628	SNRPB	OMIM:117650
HP:0001608	Abnormality of the voice	27286	SRPX2	ORPHA:163721
HP:0001608	Abnormality of the voice	2903	GRIN2A	ORPHA:163721
HP:0001608	Abnormality of the voice	84617	TUBB6	OMIM:617732
HP:0001608	Abnormality of the voice	57863	CADM3	OMIM:619519
HP:0001608	Abnormality of the voice	60684	TRAPPC11	ORPHA:869
HP:0001608	Abnormality of the voice	8086	AAAS	ORPHA:869
HP:0001608	Abnormality of the voice	93986	FOXP2	ORPHA:251061
HP:0001608	Abnormality of the voice	4841	NONO	OMIM:300967
HP:0001608	Abnormality of the voice	4841	NONO	ORPHA:466791
HP:0001608	Abnormality of the voice	23261	CAMTA1	OMIM:614756
HP:0001608	Abnormality of the voice	60482	SLC5A7	ORPHA:98914
HP:0001608	Abnormality of the voice	4649	MYO9A	ORPHA:98914
HP:0001608	Abnormality of the voice	1305	COL13A1	ORPHA:98914
HP:0001608	Abnormality of the voice	1103	CHAT	ORPHA:98914
HP:0001608	Abnormality of the voice	6576	SLC25A1	ORPHA:98914
HP:0001608	Abnormality of the voice	6843	VAMP1	ORPHA:98914
HP:0001608	Abnormality of the voice	375790	AGRN	ORPHA:98914
HP:0001608	Abnormality of the voice	6572	SLC18A3	ORPHA:98914
HP:0001608	Abnormality of the voice	6616	SNAP25	ORPHA:98914
HP:0001608	Abnormality of the voice	10472	ZBTB18	OMIM:612337
HP:0001608	Abnormality of the voice	54487	DGCR8	OMIM:192430
HP:0001608	Abnormality of the voice	8214	DGCR6	OMIM:192430
HP:0001608	Abnormality of the voice	8220	ESS2	OMIM:192430
HP:0001608	Abnormality of the voice	9993	DGCR2	OMIM:192430
HP:0001608	Abnormality of the voice	6519	SLC3A1	ORPHA:163690
HP:0001608	Abnormality of the voice	6519	SLC3A1	ORPHA:163693
HP:0001608	Abnormality of the voice	9581	PREPL	ORPHA:163690
HP:0001608	Abnormality of the voice	9581	PREPL	ORPHA:163693
HP:0001608	Abnormality of the voice	9499	MYOT	ORPHA:98911
HP:0001608	Abnormality of the voice	8106	PABPN1	OMIM:164300
HP:0001608	Abnormality of the voice	5495	PPM1B	ORPHA:163693
HP:0001608	Abnormality of the voice	79823	CAMKMT	ORPHA:163693
HP:0001608	Abnormality of the voice	139285	AMER1	OMIM:300373
HP:0001608	Abnormality of the voice	10084	PQBP1	OMIM:309500
HP:0001608	Abnormality of the voice	4256	MGP	OMIM:245150
HP:0001608	Abnormality of the voice	5116	PCNT	ORPHA:2637
HP:0001608	Abnormality of the voice	284058	KANSL1	OMIM:610443
HP:0001608	Abnormality of the voice	4848	CNOT2	OMIM:618608
HP:0001608	Abnormality of the voice	23133	PHF8	OMIM:300263
HP:0001608	Abnormality of the voice	11141	IL1RAPL1	OMIM:300143
HP:0001608	Abnormality of the voice	56652	TWNK	OMIM:607459
HP:0001608	Abnormality of the voice	5428	POLG	OMIM:607459
HP:0001608	Abnormality of the voice	10533	ATG7	OMIM:619422
HP:0001608	Abnormality of the voice	101929726	MYMX	OMIM:619941
HP:0001608	Abnormality of the voice	1297	COL9A1	OMIM:614134
HP:0001608	Abnormality of the voice	1145	CHRNE	OMIM:608931
HP:0001608	Abnormality of the voice	1145	CHRNE	OMIM:605809
HP:0001608	Abnormality of the voice	2673	GFPT1	OMIM:608931
HP:0001608	Abnormality of the voice	4728	NDUFS8	OMIM:618222
HP:0001608	Abnormality of the voice	5913	RAPSN	OMIM:618388
HP:0001608	Abnormality of the voice	5913	RAPSN	OMIM:616326
HP:0001608	Abnormality of the voice	157680	VPS13B	ORPHA:193
HP:0001608	Abnormality of the voice	1144	CHRND	OMIM:616322
HP:0001608	Abnormality of the voice	57128	LYRM4	OMIM:615595
HP:0001608	Abnormality of the voice	5393	EXOSC9	OMIM:618065
HP:0001608	Abnormality of the voice	9453	GGPS1	OMIM:619518
HP:0001608	Abnormality of the voice	1134	CHRNA1	OMIM:608930
HP:0001608	Abnormality of the voice	546	ATRX	OMIM:301040
HP:0001608	Abnormality of the voice	4976	OPA1	OMIM:616896
HP:0001608	Abnormality of the voice	6492	SIM1	ORPHA:398079
HP:0001608	Abnormality of the voice	8292	COLQ	ORPHA:98915
HP:0001608	Abnormality of the voice	8292	COLQ	OMIM:603034
HP:0001608	Abnormality of the voice	3913	LAMB2	ORPHA:98915
HP:0001608	Abnormality of the voice	3508	IGHMBP2	OMIM:604320
HP:0001608	Abnormality of the voice	443	ASPA	ORPHA:314911
HP:0001608	Abnormality of the voice	3908	LAMA2	ORPHA:258
HP:0001608	Abnormality of the voice	79068	FTO	OMIM:612938
HP:0001608	Abnormality of the voice	79989	IFT56	OMIM:619534
HP:0001608	Abnormality of the voice	4358	MPV17	OMIM:256810
HP:0001608	Abnormality of the voice	25836	NIPBL	OMIM:122470
HP:0001608	Abnormality of the voice	5824	PEX19	OMIM:614886
HP:0001608	Abnormality of the voice	129285	PPP1R21	OMIM:619383
HP:0001608	Abnormality of the voice	7317	UBA1	OMIM:301830
HP:0001608	Abnormality of the voice	57017	COQ9	OMIM:614654
HP:0001608	Abnormality of the voice	7407	VARS1	OMIM:617802
HP:0001608	Abnormality of the voice	9325	TRIP4	ORPHA:486815
HP:0001608	Abnormality of the voice	8085	KMT2D	OMIM:147920
HP:0001608	Abnormality of the voice	7403	KDM6A	OMIM:147920
HP:0001608	Abnormality of the voice	23556	PIGN	ORPHA:280633
HP:0001608	Abnormality of the voice	8425	LTBP4	OMIM:613177
HP:0001608	Abnormality of the voice	50506	DUOX2	ORPHA:226316
HP:0001608	Abnormality of the voice	7080	NKX2-1	ORPHA:95713
HP:0001608	Abnormality of the voice	2304	FOXE1	ORPHA:95713
HP:0001608	Abnormality of the voice	5172	SLC26A4	ORPHA:95713
HP:0001608	Abnormality of the voice	388015	RTL1	ORPHA:96334
HP:0001608	Abnormality of the voice	8788	DLK1	ORPHA:96334
HP:0001608	Abnormality of the voice	55384	MEG3	ORPHA:96334
HP:0001608	Abnormality of the voice	25792	CIZ1	ORPHA:420492
HP:0001608	Abnormality of the voice	274	BIN1	ORPHA:169186
HP:0001608	Abnormality of the voice	274	BIN1	OMIM:255200
HP:0001608	Abnormality of the voice	10290	SPEG	ORPHA:169186
HP:0001608	Abnormality of the voice	6261	RYR1	ORPHA:169186
HP:0001608	Abnormality of the voice	7273	TTN	ORPHA:169186
HP:0001608	Abnormality of the voice	2512	FTL	OMIM:606159
HP:0001608	Abnormality of the voice	2512	FTL	ORPHA:157846
HP:0001608	Abnormality of the voice	9757	KMT2B	ORPHA:589618
HP:0001608	Abnormality of the voice	9757	KMT2B	OMIM:617284
HP:0001608	Abnormality of the voice	2774	GNAL	OMIM:615073
HP:0001608	Abnormality of the voice	54902	TTC19	OMIM:615157
HP:0001608	Abnormality of the voice	1410	CRYAB	ORPHA:399058
HP:0001608	Abnormality of the voice	7428	VHL	ORPHA:29072
HP:0001608	Abnormality of the voice	7428	VHL	ORPHA:276621
HP:0001608	Abnormality of the voice	1743	DLST	ORPHA:29072
HP:0001608	Abnormality of the voice	4191	MDH2	ORPHA:29072
HP:0001608	Abnormality of the voice	5979	RET	ORPHA:29072
HP:0001608	Abnormality of the voice	5979	RET	ORPHA:276621
HP:0001608	Abnormality of the voice	6389	SDHA	ORPHA:29072
HP:0001608	Abnormality of the voice	23095	KIF1B	ORPHA:29072
HP:0001608	Abnormality of the voice	2271	FH	ORPHA:29072
HP:0001608	Abnormality of the voice	8402	SLC25A11	ORPHA:29072
HP:0001608	Abnormality of the voice	55654	TMEM127	ORPHA:29072
HP:0001608	Abnormality of the voice	4763	NF1	ORPHA:29072
HP:0001608	Abnormality of the voice	6390	SDHB	ORPHA:29072
HP:0001608	Abnormality of the voice	6390	SDHB	ORPHA:276621
HP:0001608	Abnormality of the voice	4149	MAX	ORPHA:29072
HP:0001608	Abnormality of the voice	10382	TUBB4A	ORPHA:98805
HP:0001608	Abnormality of the voice	10382	TUBB4A	OMIM:128101
HP:0001608	Abnormality of the voice	6650	CAPN15	OMIM:619318
HP:0001608	Abnormality of the voice	27235	COQ2	ORPHA:227510
HP:0001608	Abnormality of the voice	80025	PANK2	OMIM:234200
HP:0001608	Abnormality of the voice	4758	NEU1	ORPHA:93399
HP:0001608	Abnormality of the voice	3181	HNRNPA2B1	OMIM:620460
HP:0001608	Abnormality of the voice	2670	GFAP	ORPHA:363722
HP:0001608	Abnormality of the voice	55145	THAP1	OMIM:602629
HP:0001608	Abnormality of the voice	8575	PRKRA	ORPHA:210571
HP:0001608	Abnormality of the voice	8575	PRKRA	OMIM:612067
HP:0001608	Abnormality of the voice	1716	DGUOK	OMIM:617070
HP:0001608	Abnormality of the voice	1716	DGUOK	ORPHA:329314
HP:0001608	Abnormality of the voice	729359	PLIN4	OMIM:601846
HP:0001608	Abnormality of the voice	3300	DNAJB2	OMIM:614881
HP:0001608	Abnormality of the voice	50484	RRM2B	OMIM:613077
HP:0001608	Abnormality of the voice	1788	DNMT3A	ORPHA:276621
HP:0001608	Abnormality of the voice	2034	EPAS1	ORPHA:276621
HP:0001608	Abnormality of the voice	81846	SBF2	ORPHA:99956
HP:0001608	Abnormality of the voice	404672	GTF2H5	ORPHA:33364
HP:0001608	Abnormality of the voice	833	CARS1	ORPHA:33364
HP:0001608	Abnormality of the voice	2068	ERCC2	ORPHA:33364
HP:0001608	Abnormality of the voice	7737	RNF113A	ORPHA:33364
HP:0001608	Abnormality of the voice	136647	MPLKIP	ORPHA:33364
HP:0001608	Abnormality of the voice	6897	TARS1	ORPHA:33364
HP:0001608	Abnormality of the voice	16	AARS1	ORPHA:33364
HP:0001608	Abnormality of the voice	2071	ERCC3	ORPHA:33364
HP:0001608	Abnormality of the voice	2961	GTF2E2	ORPHA:33364
HP:0001608	Abnormality of the voice	25978	CHMP2B	ORPHA:803
HP:0001608	Abnormality of the voice	3178	HNRNPA1	ORPHA:803
HP:0001608	Abnormality of the voice	8148	TAF15	ORPHA:803
HP:0001608	Abnormality of the voice	5445	PON2	ORPHA:803
HP:0001608	Abnormality of the voice	9217	VAPB	ORPHA:803
HP:0001608	Abnormality of the voice	8878	SQSTM1	ORPHA:803
HP:0001608	Abnormality of the voice	5630	PRPH	ORPHA:803
HP:0001608	Abnormality of the voice	29110	TBK1	ORPHA:803
HP:0001608	Abnormality of the voice	55830	GLT8D1	ORPHA:803
HP:0001608	Abnormality of the voice	755	CFAP410	ORPHA:803
HP:0001608	Abnormality of the voice	10891	PPARGC1A	ORPHA:803
HP:0001608	Abnormality of the voice	6647	SOD1	ORPHA:803
HP:0001608	Abnormality of the voice	10133	OPTN	ORPHA:803
HP:0001608	Abnormality of the voice	1639	DCTN1	ORPHA:803
HP:0001608	Abnormality of the voice	9896	FIG4	ORPHA:803
HP:0001608	Abnormality of the voice	5444	PON1	ORPHA:803
HP:0001608	Abnormality of the voice	5446	PON3	ORPHA:803
HP:0001608	Abnormality of the voice	4744	NEFH	ORPHA:803
HP:0001608	Abnormality of the voice	5216	PFN1	ORPHA:803
HP:0001608	Abnormality of the voice	54209	TREM2	ORPHA:803
HP:0001608	Abnormality of the voice	7415	VCP	ORPHA:803
HP:0001608	Abnormality of the voice	283	ANG	ORPHA:803
HP:0001608	Abnormality of the voice	23435	TARDBP	ORPHA:803
HP:0001608	Abnormality of the voice	29978	UBQLN2	ORPHA:803
HP:0001608	Abnormality of the voice	2733	GLE1	ORPHA:803
HP:0001608	Abnormality of the voice	2521	FUS	ORPHA:803
HP:0001608	Abnormality of the voice	4750	NEK1	ORPHA:803
HP:0001608	Abnormality of the voice	6311	ATXN2	ORPHA:803
HP:0001608	Abnormality of the voice	1610	DAO	ORPHA:803
HP:0001608	Abnormality of the voice	2066	ERBB4	ORPHA:803
HP:0001608	Abnormality of the voice	311	ANXA11	ORPHA:803
HP:0001608	Abnormality of the voice	23025	UNC13A	ORPHA:803
HP:0001608	Abnormality of the voice	899	CCNF	ORPHA:803
HP:0001608	Abnormality of the voice	400916	CHCHD10	ORPHA:803
HP:0001608	Abnormality of the voice	3339	HSPG2	ORPHA:800
HP:0001608	Abnormality of the voice	3098	HK1	OMIM:605285
HP:0001608	Abnormality of the voice	22	ABCB7	OMIM:301310
HP:0001608	Abnormality of the voice	367	AR	ORPHA:481
HP:0001608	Abnormality of the voice	79734	KCTD17	OMIM:616398
HP:0001608	Abnormality of the voice	51305	KCNK9	ORPHA:166108
HP:0001608	Abnormality of the voice	246243	RNASEH1	OMIM:616479
HP:0001608	Abnormality of the voice	27010	TPK1	OMIM:614458
HP:0001608	Abnormality of the voice	64374	SIL1	ORPHA:559
HP:0001608	Abnormality of the voice	2395	FXN	ORPHA:95
HP:0001608	Abnormality of the voice	9829	DNAJC6	ORPHA:391411
HP:0001608	Abnormality of the voice	5420	PODXL	ORPHA:391411
HP:0001608	Abnormality of the voice	8867	SYNJ1	ORPHA:391411
HP:0001608	Abnormality of the voice	8867	SYNJ1	OMIM:615530
HP:0001608	Abnormality of the voice	2617	GARS1	OMIM:619042
HP:0001608	Abnormality of the voice	7084	TK2	ORPHA:254886
HP:0001608	Abnormality of the voice	84909	AOPEP	OMIM:619565
HP:0001608	Abnormality of the voice	4137	MAPT	ORPHA:240094
HP:0001608	Abnormality of the voice	4137	MAPT	OMIM:168600
HP:0001608	Abnormality of the voice	4591	TRIM37	OMIM:253250
HP:0001608	Abnormality of the voice	4771	NF2	ORPHA:93921
HP:0001608	Abnormality of the voice	6598	SMARCB1	ORPHA:93921
HP:0001608	Abnormality of the voice	51004	COQ6	ORPHA:93921
HP:0001608	Abnormality of the voice	8216	LZTR1	ORPHA:93921
HP:0001608	Abnormality of the voice	4287	ATXN3	OMIM:168600
HP:0001608	Abnormality of the voice	2629	GBA1	OMIM:168600
HP:0001608	Abnormality of the voice	126	ADH1C	OMIM:168600
HP:0001608	Abnormality of the voice	4576	MT-TT	OMIM:168600
HP:0001608	Abnormality of the voice	9627	SNCAIP	OMIM:168600
HP:0001608	Abnormality of the voice	6908	TBP	OMIM:168600
HP:0001608	Abnormality of the voice	4929	NR4A2	OMIM:168600
HP:0001608	Abnormality of the voice	6315	ATXN8OS	OMIM:168600
HP:0001608	Abnormality of the voice	113278	SLC52A3	OMIM:211530
HP:0001608	Abnormality of the voice	4796	TONSL	ORPHA:93357
HP:0001608	Abnormality of the voice	10159	ATP6AP2	ORPHA:93952
HP:0001608	Abnormality of the voice	2273	FHL1	OMIM:300280
HP:0001608	Abnormality of the voice	343641	TGM6	OMIM:613908
HP:0001608	Abnormality of the voice	343641	TGM6	ORPHA:276193
HP:0001608	Abnormality of the voice	5654	HTRA1	ORPHA:199354
HP:0001608	Abnormality of the voice	5917	RARS1	OMIM:616140
HP:0001608	Abnormality of the voice	5917	RARS1	ORPHA:438114
HP:0001608	Abnormality of the voice	5832	ALDH18A1	OMIM:616586
HP:0001608	Abnormality of the voice	1593	CYP27A1	OMIM:213700
HP:0001608	Abnormality of the voice	9289	ADGRG1	ORPHA:98889
HP:0001608	Abnormality of the voice	5297	PI4KA	ORPHA:98889
HP:0001608	Abnormality of the voice	57679	ALS2	OMIM:606353
HP:0001608	Abnormality of the voice	4001	LMNB1	OMIM:169500
HP:0001608	Abnormality of the voice	2583	B4GALNT1	ORPHA:101006
HP:0001608	Abnormality of the voice	116150	NUS1	OMIM:617082
HP:0001608	Abnormality of the voice	22872	SEC31A	OMIM:618651
HP:0001608	Abnormality of the voice	23503	ZFYVE26	ORPHA:100996
HP:0001608	Abnormality of the voice	60	ACTB	OMIM:607371
HP:0001608	Abnormality of the voice	3145	HMBS	ORPHA:79276
HP:0001608	Abnormality of the voice	5422	POLA1	OMIM:301030
HP:0001608	Abnormality of the voice	2592	GALT	ORPHA:79239
HP:0001608	Abnormality of the voice	3064	HTT	ORPHA:399
HP:0001608	Abnormality of the voice	6515	SLC2A3	ORPHA:399
HP:0001608	Abnormality of the voice	4692	NDN	ORPHA:177904
HP:0001608	Abnormality of the voice	4692	NDN	ORPHA:177901
HP:0001608	Abnormality of the voice	4948	OCA2	ORPHA:177904
HP:0001608	Abnormality of the voice	4948	OCA2	ORPHA:177901
HP:0001608	Abnormality of the voice	10735	STAG2	ORPHA:521258
HP:0001608	Abnormality of the voice	5332	PLCB4	OMIM:614669
HP:0001608	Abnormality of the voice	23732	FRRS1L	ORPHA:725
HP:0001608	Abnormality of the voice	8659	ALDH4A1	ORPHA:79101
HP:0001608	Abnormality of the voice	2566	GABRG2	ORPHA:1945
HP:0001608	Abnormality of the voice	25970	SH2B1	ORPHA:261197
HP:0001608	Abnormality of the voice	27086	FOXP1	ORPHA:391372
HP:0001608	Abnormality of the voice	2773	GNAI3	OMIM:602483
HP:0001608	Abnormality of the voice	25885	POLR1A	OMIM:616462
HP:0001608	Abnormality of the voice	55823	VPS11	OMIM:619637
HP:0001608	Abnormality of the voice	2778	GNAS	ORPHA:94089
HP:0001608	Abnormality of the voice	2778	GNAS	ORPHA:79443
HP:0001608	Abnormality of the voice	2778	GNAS	ORPHA:79444
HP:0001608	Abnormality of the voice	8675	STX16	ORPHA:94089
HP:0001608	Abnormality of the voice	518	ATP5MC3	OMIM:619681
HP:0001608	Abnormality of the voice	1293	COL6A3	OMIM:616411
HP:0001608	Abnormality of the voice	1293	COL6A3	ORPHA:464440
HP:0001608	Abnormality of the voice	23230	VPS13A	ORPHA:2388
HP:0001608	Abnormality of the voice	9256	TSPOAP1	OMIM:620453
HP:0001608	Abnormality of the voice	23498	HAAO	OMIM:617660
HP:0001608	Abnormality of the voice	667	DST	OMIM:614653
HP:0001608	Abnormality of the voice	374879	ZNF699	OMIM:619488
HP:0001608	Abnormality of the voice	7253	TSHR	ORPHA:90673
HP:0001608	Abnormality of the voice	478	ATP1A3	OMIM:619606
HP:0001608	Abnormality of the voice	55163	PNPO	ORPHA:79096
HP:0001608	Abnormality of the voice	498	ATP5F1A	OMIM:615228
HP:0001608	Abnormality of the voice	249	ALPL	OMIM:241500
HP:0001608	Abnormality of the voice	18	ABAT	OMIM:613163
HP:0001608	Abnormality of the voice	4204	MECP2	ORPHA:778
HP:0001604	Vocal cord paresis	9361	LONP1	OMIM:600373
HP:0001604	Vocal cord paresis	54332	GDAP1	OMIM:607706
HP:0001604	Vocal cord paresis	54332	GDAP1	ORPHA:99948
HP:0001604	Vocal cord paresis	54332	GDAP1	ORPHA:101097
HP:0001604	Vocal cord paresis	60482	SLC5A7	OMIM:158580
HP:0001604	Vocal cord paresis	182	JAG1	OMIM:619574
HP:0001604	Vocal cord paresis	57716	PRX	OMIM:614895
HP:0001604	Vocal cord paresis	59341	TRPV4	OMIM:606071
HP:0001604	Vocal cord paresis	79628	SH3TC2	ORPHA:99949
HP:0001604	Vocal cord paresis	9927	MFN2	OMIM:601152
HP:0001604	Vocal cord paresis	9782	MATR3	ORPHA:600
HP:0001604	Vocal cord paresis	353116	RILPL1	ORPHA:98897
HP:0001604	Vocal cord paresis	10755	GIPC1	ORPHA:98897
HP:0001604	Vocal cord paresis	29967	LRP12	ORPHA:98897
HP:0001604	Vocal cord paresis	100996717	NOTCH2NLC	ORPHA:98897
HP:0001604	Vocal cord paresis	23498	HAAO	OMIM:617660
HP:0001604	Vocal cord paresis	667	DST	OMIM:614653
HP:0001602	Laryngeal stenosis	3909	LAMA3	ORPHA:79404
HP:0001602	Laryngeal stenosis	3918	LAMC2	ORPHA:79404
HP:0001602	Laryngeal stenosis	3914	LAMB3	ORPHA:79404
HP:0001602	Laryngeal stenosis	1836	SLC26A2	ORPHA:56304
HP:0001602	Laryngeal stenosis	3835	KIF22	ORPHA:93360
HP:0001602	Laryngeal stenosis	341640	FREM2	ORPHA:2052
HP:0001602	Laryngeal stenosis	80144	FRAS1	ORPHA:2052
HP:0001602	Laryngeal stenosis	80144	FRAS1	OMIM:219000
HP:0001602	Laryngeal stenosis	23426	GRIP1	ORPHA:2052
HP:0001602	Laryngeal stenosis	55612	FERMT1	ORPHA:2908
HP:0001602	Laryngeal stenosis	2317	FLNB	ORPHA:1190
HP:0001602	Laryngeal stenosis	2317	FLNB	OMIM:108720
HP:0001602	Laryngeal stenosis	65992	DDRGK1	ORPHA:93352
HP:0001602	Laryngeal stenosis	389827	MYMK	ORPHA:1358
HP:0001602	Laryngeal stenosis	101929726	MYMX	ORPHA:1358
HP:0001602	Laryngeal stenosis	2137	EXTL3	ORPHA:508533
HP:0001602	Laryngeal stenosis	2137	EXTL3	OMIM:617425
HP:0001602	Laryngeal stenosis	4089	SMAD4	OMIM:139210
HP:0001602	Laryngeal stenosis	9719	ADAMTSL2	OMIM:231050
HP:0001601	Laryngomalacia	9361	LONP1	OMIM:600373
HP:0001601	Laryngomalacia	6134	RPL10	OMIM:300998
HP:0001601	Laryngomalacia	6134	RPL10	ORPHA:459070
HP:0001601	Laryngomalacia	6134	RPL10	ORPHA:435938
HP:0001601	Laryngomalacia	104	ADARB1	OMIM:618862
HP:0001601	Laryngomalacia	6477	SIAH1	OMIM:619314
HP:0001601	Laryngomalacia	8425	LTBP4	OMIM:613177
HP:0001601	Laryngomalacia	6659	SOX4	OMIM:618506
HP:0001601	Laryngomalacia	2972	BRF1	OMIM:616202
HP:0001601	Laryngomalacia	2972	BRF1	ORPHA:444072
HP:0001601	Laryngomalacia	9759	HDAC4	ORPHA:1001
HP:0001601	Laryngomalacia	775	CACNA1C	OMIM:620029
HP:0001601	Laryngomalacia	5894	RAF1	OMIM:611553
HP:0001601	Laryngomalacia	4897	NRCAM	OMIM:619833
HP:0001601	Laryngomalacia	27125	AFF4	ORPHA:444077
HP:0001601	Laryngomalacia	27125	AFF4	OMIM:616368
HP:0001601	Laryngomalacia	6662	SOX9	ORPHA:140
HP:0001601	Laryngomalacia	6662	SOX9	ORPHA:718
HP:0001601	Laryngomalacia	23498	HAAO	OMIM:617660
HP:0001601	Laryngomalacia	91179	SCARF2	OMIM:600920
HP:0001601	Laryngomalacia	3020	H3-3A	OMIM:619720
HP:0001601	Laryngomalacia	3021	H3-3B	OMIM:619721
HP:0001601	Laryngomalacia	388015	RTL1	ORPHA:254528
HP:0001601	Laryngomalacia	388015	RTL1	ORPHA:96334
HP:0001601	Laryngomalacia	8788	DLK1	ORPHA:254528
HP:0001601	Laryngomalacia	8788	DLK1	ORPHA:96334
HP:0001601	Laryngomalacia	55384	MEG3	ORPHA:254528
HP:0001601	Laryngomalacia	55384	MEG3	ORPHA:96334
HP:0001601	Laryngomalacia	80816	ASXL3	OMIM:615485
HP:0001601	Laryngomalacia	89910	UBE3B	OMIM:244450
HP:0001601	Laryngomalacia	51506	UFC1	OMIM:618076
HP:0001601	Laryngomalacia	27245	AHDC1	ORPHA:412069
HP:0001601	Laryngomalacia	27245	AHDC1	OMIM:615829
HP:0001601	Laryngomalacia	1841	DTYMK	OMIM:619847
HP:0001601	Laryngomalacia	79631	EFL1	OMIM:617941
HP:0001601	Laryngomalacia	55636	CHD7	ORPHA:138
HP:0001601	Laryngomalacia	9723	SEMA3E	ORPHA:138
HP:0001601	Laryngomalacia	4038	LRP4	ORPHA:3258
HP:0001601	Laryngomalacia	324	APC	ORPHA:3258
HP:0001601	Laryngomalacia	6926	TBX3	ORPHA:3138
HP:0001601	Laryngomalacia	3417	IDH1	ORPHA:99646
HP:0001601	Laryngomalacia	4784	NFIX	OMIM:602535
HP:0001601	Laryngomalacia	2263	FGFR2	ORPHA:93260
HP:0001601	Laryngomalacia	2263	FGFR2	ORPHA:93259
HP:0001601	Laryngomalacia	284058	KANSL1	ORPHA:363958
HP:0001601	Laryngomalacia	284058	KANSL1	ORPHA:363965
HP:0001601	Laryngomalacia	284058	KANSL1	OMIM:610443
HP:0001601	Laryngomalacia	54496	PRMT7	OMIM:617157
HP:0001601	Laryngomalacia	54496	PRMT7	ORPHA:464288
HP:0001601	Laryngomalacia	25885	POLR1A	OMIM:616462
HP:0001601	Laryngomalacia	23522	KAT6B	OMIM:606170
HP:0001601	Laryngomalacia	7994	KAT6A	ORPHA:457193
HP:0001601	Laryngomalacia	1312	COMT	ORPHA:567
HP:0001601	Laryngomalacia	221037	JMJD1C	ORPHA:567
HP:0001601	Laryngomalacia	2812	GP1BB	ORPHA:567
HP:0001601	Laryngomalacia	6239	RREB1	ORPHA:567
HP:0001601	Laryngomalacia	6899	TBX1	ORPHA:567
HP:0001601	Laryngomalacia	7290	HIRA	ORPHA:567
HP:0001601	Laryngomalacia	9632	SEC24C	ORPHA:567
HP:0001601	Laryngomalacia	7353	UFD1	ORPHA:567
HP:0001601	Laryngomalacia	421	ARVCF	ORPHA:567
HP:0001601	Laryngomalacia	157680	VPS13B	OMIM:216550
HP:0001601	Laryngomalacia	4000	LMNA	ORPHA:79474
HP:0001601	Laryngomalacia	23594	ORC6	OMIM:613803
HP:0001601	Laryngomalacia	26040	SETBP1	ORPHA:798
HP:0001601	Laryngomalacia	64864	RFX7	OMIM:620330
HP:0001601	Laryngomalacia	5447	POR	OMIM:201750
HP:0001601	Laryngomalacia	8493	PPM1D	OMIM:617450
HP:0001601	Laryngomalacia	2033	EP300	OMIM:180849
HP:0001601	Laryngomalacia	1387	CREBBP	OMIM:180849
HP:0001601	Laryngomalacia	91461	PKDCC	OMIM:618821
HP:0001601	Laryngomalacia	79753	SNIP1	OMIM:614501
HP:0001601	Laryngomalacia	7486	WRN	ORPHA:902
HP:0001601	Laryngomalacia	10236	HNRNPR	OMIM:620073
HP:0001601	Laryngomalacia	1303	COL12A1	ORPHA:536516
HP:0001601	Laryngomalacia	374879	ZNF699	OMIM:619488
HP:0001601	Laryngomalacia	6857	SYT1	ORPHA:522077
HP:0001601	Laryngomalacia	253959	RALGAPA1	OMIM:618797
HP:0001601	Laryngomalacia	51341	ZBTB7A	OMIM:619769
HP:0001601	Laryngomalacia	11128	POLR3A	ORPHA:3455
HP:0001601	Laryngomalacia	23314	SATB2	ORPHA:576283
HP:0001601	Laryngomalacia	5116	PCNT	ORPHA:2637
HP:0001601	Laryngomalacia	4087	SMAD2	OMIM:619657
HP:0001601	Laryngomalacia	2581	GALC	ORPHA:206436
HP:0001601	Laryngomalacia	5660	PSAP	ORPHA:206436
HP:0001601	Laryngomalacia	3778	KCNMA1	OMIM:618729
HP:0001601	Laryngomalacia	26123	TCTN3	ORPHA:2753
HP:0001601	Laryngomalacia	3339	HSPG2	ORPHA:800
HP:0001601	Laryngomalacia	3239	HOXD13	ORPHA:887
HP:0001601	Laryngomalacia	1513	CTSK	ORPHA:763
HP:0001601	Laryngomalacia	529	ATP6V1E1	OMIM:617402
HP:0001601	Laryngomalacia	4212	MEIS2	ORPHA:261190
HP:0001601	Laryngomalacia	219844	HYLS1	ORPHA:2189
HP:0001601	Laryngomalacia	374654	KIF7	ORPHA:2189
HP:0001601	Laryngomalacia	51053	GMNN	OMIM:616835
HP:0001601	Laryngomalacia	3852	KRT5	ORPHA:79396
HP:0001601	Laryngomalacia	3861	KRT14	ORPHA:79396
HP:0001600	Abnormality of the larynx	54903	MKS1	OMIM:249000
HP:0001600	Abnormality of the larynx	10743	RAI1	OMIM:182290
HP:0001600	Abnormality of the larynx	4750	NEK1	OMIM:263520
HP:0001600	Abnormality of the larynx	1654	DDX3X	ORPHA:3338
HP:0001600	Abnormality of the larynx	1717	DHCR7	ORPHA:818
HP:0001600	Abnormality of the larynx	3852	KRT5	ORPHA:79396
HP:0001600	Abnormality of the larynx	3861	KRT14	ORPHA:79396
HP:0001600	Abnormality of the larynx	63982	ANO3	ORPHA:420485
HP:0001600	Abnormality of the larynx	7473	WNT3	ORPHA:3301
HP:0001600	Abnormality of the larynx	340419	RSPO2	ORPHA:3301
HP:0001600	Abnormality of the larynx	9496	TBX4	ORPHA:3301
HP:0001600	Abnormality of the larynx	9361	LONP1	ORPHA:1458
HP:0001600	Abnormality of the larynx	389827	MYMK	ORPHA:1358
HP:0001600	Abnormality of the larynx	101929726	MYMX	ORPHA:1358
HP:0001600	Abnormality of the larynx	6134	RPL10	OMIM:300998
HP:0001600	Abnormality of the larynx	6134	RPL10	ORPHA:459070
HP:0001600	Abnormality of the larynx	6134	RPL10	ORPHA:435938
HP:0001600	Abnormality of the larynx	104	ADARB1	OMIM:618862
HP:0001600	Abnormality of the larynx	6477	SIAH1	OMIM:619314
HP:0001600	Abnormality of the larynx	8425	LTBP4	OMIM:613177
HP:0001600	Abnormality of the larynx	6659	SOX4	OMIM:618506
HP:0001600	Abnormality of the larynx	2972	BRF1	OMIM:616202
HP:0001600	Abnormality of the larynx	2972	BRF1	ORPHA:444072
HP:0001600	Abnormality of the larynx	9759	HDAC4	ORPHA:1001
HP:0001600	Abnormality of the larynx	775	CACNA1C	OMIM:620029
HP:0001600	Abnormality of the larynx	5894	RAF1	OMIM:611553
HP:0001600	Abnormality of the larynx	4897	NRCAM	OMIM:619833
HP:0001600	Abnormality of the larynx	27125	AFF4	ORPHA:444077
HP:0001600	Abnormality of the larynx	27125	AFF4	OMIM:616368
HP:0001600	Abnormality of the larynx	6662	SOX9	ORPHA:140
HP:0001600	Abnormality of the larynx	6662	SOX9	ORPHA:718
HP:0001600	Abnormality of the larynx	23498	HAAO	OMIM:617660
HP:0001600	Abnormality of the larynx	91179	SCARF2	OMIM:600920
HP:0001600	Abnormality of the larynx	3020	H3-3A	OMIM:619720
HP:0001600	Abnormality of the larynx	3021	H3-3B	OMIM:619721
HP:0001600	Abnormality of the larynx	388015	RTL1	ORPHA:254528
HP:0001600	Abnormality of the larynx	388015	RTL1	ORPHA:96334
HP:0001600	Abnormality of the larynx	8788	DLK1	ORPHA:254528
HP:0001600	Abnormality of the larynx	8788	DLK1	ORPHA:96334
HP:0001600	Abnormality of the larynx	55384	MEG3	ORPHA:254528
HP:0001600	Abnormality of the larynx	55384	MEG3	ORPHA:96334
HP:0001600	Abnormality of the larynx	80816	ASXL3	OMIM:615485
HP:0001600	Abnormality of the larynx	89910	UBE3B	OMIM:244450
HP:0001600	Abnormality of the larynx	51506	UFC1	OMIM:618076
HP:0001600	Abnormality of the larynx	27245	AHDC1	ORPHA:412069
HP:0001600	Abnormality of the larynx	27245	AHDC1	OMIM:615829
HP:0001600	Abnormality of the larynx	1841	DTYMK	OMIM:619847
HP:0001600	Abnormality of the larynx	79631	EFL1	OMIM:617941
HP:0001600	Abnormality of the larynx	55636	CHD7	ORPHA:138
HP:0001600	Abnormality of the larynx	9723	SEMA3E	ORPHA:138
HP:0001600	Abnormality of the larynx	4038	LRP4	ORPHA:3258
HP:0001600	Abnormality of the larynx	324	APC	ORPHA:3258
HP:0001600	Abnormality of the larynx	6926	TBX3	ORPHA:3138
HP:0001600	Abnormality of the larynx	3417	IDH1	ORPHA:99646
HP:0001600	Abnormality of the larynx	4784	NFIX	OMIM:602535
HP:0001600	Abnormality of the larynx	2263	FGFR2	ORPHA:93260
HP:0001600	Abnormality of the larynx	2263	FGFR2	ORPHA:93259
HP:0001600	Abnormality of the larynx	284058	KANSL1	ORPHA:363958
HP:0001600	Abnormality of the larynx	284058	KANSL1	ORPHA:363965
HP:0001600	Abnormality of the larynx	284058	KANSL1	OMIM:610443
HP:0001600	Abnormality of the larynx	54496	PRMT7	OMIM:617157
HP:0001600	Abnormality of the larynx	54496	PRMT7	ORPHA:464288
HP:0001600	Abnormality of the larynx	25885	POLR1A	OMIM:616462
HP:0001600	Abnormality of the larynx	23522	KAT6B	OMIM:606170
HP:0001600	Abnormality of the larynx	7994	KAT6A	ORPHA:457193
HP:0001600	Abnormality of the larynx	1312	COMT	ORPHA:567
HP:0001600	Abnormality of the larynx	221037	JMJD1C	ORPHA:567
HP:0001600	Abnormality of the larynx	2812	GP1BB	ORPHA:567
HP:0001600	Abnormality of the larynx	6239	RREB1	ORPHA:567
HP:0001600	Abnormality of the larynx	6899	TBX1	ORPHA:567
HP:0001600	Abnormality of the larynx	7290	HIRA	ORPHA:567
HP:0001600	Abnormality of the larynx	9632	SEC24C	ORPHA:567
HP:0001600	Abnormality of the larynx	7353	UFD1	ORPHA:567
HP:0001600	Abnormality of the larynx	421	ARVCF	ORPHA:567
HP:0001600	Abnormality of the larynx	157680	VPS13B	OMIM:216550
HP:0001600	Abnormality of the larynx	4000	LMNA	ORPHA:79474
HP:0001600	Abnormality of the larynx	23594	ORC6	OMIM:613803
HP:0001600	Abnormality of the larynx	26040	SETBP1	ORPHA:798
HP:0001600	Abnormality of the larynx	64864	RFX7	OMIM:620330
HP:0001600	Abnormality of the larynx	5447	POR	OMIM:201750
HP:0001600	Abnormality of the larynx	8493	PPM1D	OMIM:617450
HP:0001600	Abnormality of the larynx	2033	EP300	OMIM:180849
HP:0001600	Abnormality of the larynx	1387	CREBBP	OMIM:180849
HP:0001600	Abnormality of the larynx	91461	PKDCC	OMIM:618821
HP:0001600	Abnormality of the larynx	79753	SNIP1	OMIM:614501
HP:0001600	Abnormality of the larynx	7486	WRN	ORPHA:902
HP:0001600	Abnormality of the larynx	10236	HNRNPR	OMIM:620073
HP:0001600	Abnormality of the larynx	1303	COL12A1	ORPHA:536516
HP:0001600	Abnormality of the larynx	374879	ZNF699	OMIM:619488
HP:0001600	Abnormality of the larynx	6857	SYT1	ORPHA:522077
HP:0001600	Abnormality of the larynx	253959	RALGAPA1	OMIM:618797
HP:0001600	Abnormality of the larynx	51341	ZBTB7A	OMIM:619769
HP:0001600	Abnormality of the larynx	11128	POLR3A	ORPHA:3455
HP:0001600	Abnormality of the larynx	23314	SATB2	ORPHA:576283
HP:0001600	Abnormality of the larynx	5116	PCNT	ORPHA:2637
HP:0001600	Abnormality of the larynx	4087	SMAD2	OMIM:619657
HP:0001600	Abnormality of the larynx	2581	GALC	ORPHA:206436
HP:0001600	Abnormality of the larynx	5660	PSAP	ORPHA:206436
HP:0001600	Abnormality of the larynx	3778	KCNMA1	OMIM:618729
HP:0001600	Abnormality of the larynx	26123	TCTN3	ORPHA:2753
HP:0001600	Abnormality of the larynx	3339	HSPG2	ORPHA:800
HP:0001600	Abnormality of the larynx	3239	HOXD13	ORPHA:887
HP:0001600	Abnormality of the larynx	1513	CTSK	ORPHA:763
HP:0001600	Abnormality of the larynx	529	ATP6V1E1	OMIM:617402
HP:0001600	Abnormality of the larynx	4212	MEIS2	ORPHA:261190
HP:0001600	Abnormality of the larynx	219844	HYLS1	ORPHA:2189
HP:0001600	Abnormality of the larynx	374654	KIF7	ORPHA:2189
HP:0001600	Abnormality of the larynx	51053	GMNN	OMIM:616835
HP:0001600	Abnormality of the larynx	3909	LAMA3	ORPHA:79404
HP:0001600	Abnormality of the larynx	3918	LAMC2	ORPHA:79404
HP:0001600	Abnormality of the larynx	3914	LAMB3	ORPHA:79404
HP:0001600	Abnormality of the larynx	1836	SLC26A2	ORPHA:56304
HP:0001600	Abnormality of the larynx	3835	KIF22	ORPHA:93360
HP:0001600	Abnormality of the larynx	341640	FREM2	ORPHA:2052
HP:0001600	Abnormality of the larynx	80144	FRAS1	ORPHA:2052
HP:0001600	Abnormality of the larynx	80144	FRAS1	OMIM:219000
HP:0001600	Abnormality of the larynx	23426	GRIP1	ORPHA:2052
HP:0001600	Abnormality of the larynx	55612	FERMT1	ORPHA:2908
HP:0001600	Abnormality of the larynx	2317	FLNB	ORPHA:1190
HP:0001600	Abnormality of the larynx	2317	FLNB	OMIM:108720
HP:0001600	Abnormality of the larynx	65992	DDRGK1	ORPHA:93352
HP:0001600	Abnormality of the larynx	10262	SF3B4	OMIM:154400
HP:0001600	Abnormality of the larynx	1062	CENPE	OMIM:616051
HP:0001600	Abnormality of the larynx	6885	MAP3K7	OMIM:617137
HP:0001600	Abnormality of the larynx	6885	MAP3K7	ORPHA:1826
HP:0001600	Abnormality of the larynx	6091	ROBO1	OMIM:620305
HP:0001600	Abnormality of the larynx	2316	FLNA	ORPHA:1826
HP:0001600	Abnormality of the larynx	1493	CTLA4	ORPHA:900
HP:0001600	Abnormality of the larynx	26191	PTPN22	ORPHA:900
HP:0001600	Abnormality of the larynx	3115	HLA-DPB1	ORPHA:900
HP:0001600	Abnormality of the larynx	5657	PRTN3	ORPHA:900
HP:0001600	Abnormality of the larynx	3113	HLA-DPA1	ORPHA:900
HP:0001600	Abnormality of the larynx	4796	TONSL	ORPHA:93357
HP:0001600	Abnormality of the larynx	4796	TONSL	OMIM:271510
HP:0001600	Abnormality of the larynx	51199	NIN	ORPHA:319675
HP:0001600	Abnormality of the larynx	4054	LTBP3	OMIM:617809
HP:0001600	Abnormality of the larynx	2137	EXTL3	ORPHA:508533
HP:0001600	Abnormality of the larynx	2137	EXTL3	OMIM:617425
HP:0001600	Abnormality of the larynx	4089	SMAD4	OMIM:139210
HP:0001600	Abnormality of the larynx	9719	ADAMTSL2	OMIM:231050
HP:0001600	Abnormality of the larynx	2261	FGFR3	ORPHA:2363
HP:0001600	Abnormality of the larynx	2255	FGF10	ORPHA:2363
HP:0001600	Abnormality of the larynx	710	SERPING1	ORPHA:100050
HP:0001600	Abnormality of the larynx	139285	AMER1	OMIM:300373
HP:0001600	Abnormality of the larynx	4519	MT-CYB	ORPHA:137675
HP:0001600	Abnormality of the larynx	5621	PRNP	ORPHA:466
HP:0001600	Abnormality of the larynx	5354	PLP1	ORPHA:280210
HP:0001600	Abnormality of the larynx	686	BTD	ORPHA:79241
HP:0001600	Abnormality of the larynx	6872	TAF1	ORPHA:53351
HP:0001600	Abnormality of the larynx	9775	EIF4A3	OMIM:268305
HP:0001600	Abnormality of the larynx	3930	LBR	OMIM:215140
HP:0001600	Abnormality of the larynx	4256	MGP	OMIM:245150
HP:0001600	Abnormality of the larynx	3845	KRAS	ORPHA:3339
HP:0001600	Abnormality of the larynx	22858	CILK1	OMIM:612651
HP:0001600	Abnormality of the larynx	27152	INTU	OMIM:617925
HP:0001600	Abnormality of the larynx	5396	PRRX1	OMIM:202650
HP:0001600	Abnormality of the larynx	7547	ZIC3	OMIM:314390
HP:0001600	Abnormality of the larynx	2187	FANCB	OMIM:314390
HP:0001600	Abnormality of the larynx	4281	MID1	ORPHA:2745
HP:0001600	Abnormality of the larynx	4281	MID1	OMIM:300000
HP:0001600	Abnormality of the larynx	2737	GLI3	ORPHA:672
HP:0001600	Abnormality of the larynx	2737	GLI3	OMIM:146510
HP:0001600	Abnormality of the larynx	6650	CAPN15	OMIM:619318
HP:0001600	Abnormality of the larynx	1906	EDN1	OMIM:615706
HP:0001600	Abnormality of the larynx	55294	FBXW7	OMIM:620012
HP:0001600	Abnormality of the larynx	55023	PHIP	OMIM:617991
HP:0001600	Abnormality of the larynx	6711	SPTBN1	OMIM:619475
HP:0001600	Abnormality of the larynx	26005	C2CD3	OMIM:615948
HP:0001600	Abnormality of the larynx	26005	C2CD3	ORPHA:434179
HP:0001600	Abnormality of the larynx	51626	DYNC2LI1	OMIM:617088
HP:0001600	Abnormality of the larynx	415	ARSL	ORPHA:79345
HP:0001600	Abnormality of the larynx	5745	PTH1R	OMIM:215045
HP:0001600	Abnormality of the larynx	29967	LRP12	OMIM:164310
HP:0001600	Abnormality of the larynx	29967	LRP12	ORPHA:98897
HP:0001600	Abnormality of the larynx	353116	RILPL1	ORPHA:98897
HP:0001600	Abnormality of the larynx	10755	GIPC1	ORPHA:98897
HP:0001600	Abnormality of the larynx	100996717	NOTCH2NLC	ORPHA:98897
HP:0001600	Abnormality of the larynx	55112	DYNC2I1	ORPHA:93271
HP:0001600	Abnormality of the larynx	57560	IFT80	ORPHA:93271
HP:0001600	Abnormality of the larynx	57539	WDR35	ORPHA:93271
HP:0001600	Abnormality of the larynx	79659	DYNC2H1	ORPHA:93271
HP:0001600	Abnormality of the larynx	89891	DYNC2I2	ORPHA:93271
HP:0001600	Abnormality of the larynx	2304	FOXE1	OMIM:241850
HP:0001600	Abnormality of the larynx	7512	XPNPEP2	ORPHA:100057
HP:0001600	Abnormality of the larynx	5340	PLG	OMIM:619360
HP:0001600	Abnormality of the larynx	64711	HS3ST6	OMIM:619367
HP:0001600	Abnormality of the larynx	2050	EPHB4	ORPHA:90186
HP:0001600	Abnormality of the larynx	4292	MLH1	OMIM:158320
HP:0001600	Abnormality of the larynx	4292	MLH1	ORPHA:144
HP:0001600	Abnormality of the larynx	4436	MSH2	OMIM:158320
HP:0001600	Abnormality of the larynx	4436	MSH2	ORPHA:144
HP:0001600	Abnormality of the larynx	4072	EPCAM	ORPHA:144
HP:0001600	Abnormality of the larynx	5395	PMS2	ORPHA:144
HP:0001600	Abnormality of the larynx	7048	TGFBR2	ORPHA:144
HP:0001600	Abnormality of the larynx	5290	PIK3CA	ORPHA:144
HP:0001600	Abnormality of the larynx	2956	MSH6	ORPHA:144
HP:0001600	Abnormality of the larynx	5378	PMS1	ORPHA:144
HP:0001600	Abnormality of the larynx	284654	RSPO1	OMIM:610644
HP:0001600	Abnormality of the larynx	427	ASAH1	ORPHA:333
HP:0001600	Abnormality of the larynx	846	CASR	OMIM:601198
HP:0001600	Abnormality of the larynx	6329	SCN4A	OMIM:608390
HP:0001600	Abnormality of the larynx	6329	SCN4A	ORPHA:99734
HP:0001600	Abnormality of the larynx	7259	TSPYL1	OMIM:608800
HP:0001600	Abnormality of the larynx	2629	GBA1	ORPHA:77260
HP:0001600	Abnormality of the larynx	25978	CHMP2B	ORPHA:803
HP:0001600	Abnormality of the larynx	3178	HNRNPA1	ORPHA:803
HP:0001600	Abnormality of the larynx	8148	TAF15	ORPHA:803
HP:0001600	Abnormality of the larynx	5445	PON2	ORPHA:803
HP:0001600	Abnormality of the larynx	9217	VAPB	ORPHA:803
HP:0001600	Abnormality of the larynx	8878	SQSTM1	ORPHA:803
HP:0001600	Abnormality of the larynx	5630	PRPH	ORPHA:803
HP:0001600	Abnormality of the larynx	29110	TBK1	ORPHA:803
HP:0001600	Abnormality of the larynx	55830	GLT8D1	ORPHA:803
HP:0001600	Abnormality of the larynx	755	CFAP410	ORPHA:803
HP:0001600	Abnormality of the larynx	10891	PPARGC1A	ORPHA:803
HP:0001600	Abnormality of the larynx	6647	SOD1	ORPHA:803
HP:0001600	Abnormality of the larynx	10133	OPTN	ORPHA:803
HP:0001600	Abnormality of the larynx	1639	DCTN1	ORPHA:803
HP:0001600	Abnormality of the larynx	9896	FIG4	ORPHA:803
HP:0001600	Abnormality of the larynx	5444	PON1	ORPHA:803
HP:0001600	Abnormality of the larynx	5446	PON3	ORPHA:803
HP:0001600	Abnormality of the larynx	4744	NEFH	ORPHA:803
HP:0001600	Abnormality of the larynx	5216	PFN1	ORPHA:803
HP:0001600	Abnormality of the larynx	9782	MATR3	ORPHA:803
HP:0001600	Abnormality of the larynx	54209	TREM2	ORPHA:803
HP:0001600	Abnormality of the larynx	7415	VCP	ORPHA:803
HP:0001600	Abnormality of the larynx	283	ANG	ORPHA:803
HP:0001600	Abnormality of the larynx	23435	TARDBP	ORPHA:803
HP:0001600	Abnormality of the larynx	29978	UBQLN2	ORPHA:803
HP:0001600	Abnormality of the larynx	2733	GLE1	ORPHA:803
HP:0001600	Abnormality of the larynx	2521	FUS	ORPHA:803
HP:0001600	Abnormality of the larynx	6311	ATXN2	ORPHA:803
HP:0001600	Abnormality of the larynx	1610	DAO	ORPHA:803
HP:0001600	Abnormality of the larynx	2066	ERBB4	ORPHA:803
HP:0001600	Abnormality of the larynx	311	ANXA11	ORPHA:803
HP:0001600	Abnormality of the larynx	23025	UNC13A	ORPHA:803
HP:0001600	Abnormality of the larynx	899	CCNF	ORPHA:803
HP:0001600	Abnormality of the larynx	400916	CHCHD10	ORPHA:803
HP:0001600	Abnormality of the larynx	27286	SRPX2	ORPHA:1945
HP:0001600	Abnormality of the larynx	2903	GRIN2A	ORPHA:1945
HP:0001600	Abnormality of the larynx	2566	GABRG2	ORPHA:1945
HP:0001600	Abnormality of the larynx	2314	FLII	ORPHA:819
HP:0001600	Abnormality of the larynx	23096	IQSEC2	ORPHA:819
HP:0001600	Abnormality of the larynx	10522	DEAF1	ORPHA:819
HP:0001600	Abnormality of the larynx	22861	NLRP1	OMIM:618803
HP:0001600	Abnormality of the larynx	22861	NLRP1	OMIM:617388
HP:0001600	Abnormality of the larynx	64840	PORCN	OMIM:305600
HP:0001600	Abnormality of the larynx	847	CAT	ORPHA:926
HP:0001600	Abnormality of the larynx	7157	TP53	ORPHA:524
HP:0001600	Abnormality of the larynx	1029	CDKN2A	ORPHA:524
HP:0001600	Abnormality of the larynx	4193	MDM2	ORPHA:524
HP:0001600	Abnormality of the larynx	11200	CHEK2	ORPHA:524
HP:0001600	Abnormality of the larynx	22827	PUF60	ORPHA:508488
HP:0001618	Dysphonia	25792	CIZ1	ORPHA:420492
HP:0001618	Dysphonia	274	BIN1	ORPHA:169186
HP:0001618	Dysphonia	274	BIN1	OMIM:255200
HP:0001618	Dysphonia	10290	SPEG	ORPHA:169186
HP:0001618	Dysphonia	6261	RYR1	ORPHA:169186
HP:0001618	Dysphonia	7273	TTN	ORPHA:169186
HP:0001618	Dysphonia	2512	FTL	OMIM:606159
HP:0001618	Dysphonia	2512	FTL	ORPHA:157846
HP:0001618	Dysphonia	9757	KMT2B	ORPHA:589618
HP:0001618	Dysphonia	9757	KMT2B	OMIM:617284
HP:0001618	Dysphonia	2774	GNAL	OMIM:615073
HP:0001618	Dysphonia	8106	PABPN1	ORPHA:270
HP:0001618	Dysphonia	54902	TTC19	OMIM:615157
HP:0001618	Dysphonia	1410	CRYAB	ORPHA:399058
HP:0001618	Dysphonia	7428	VHL	ORPHA:29072
HP:0001618	Dysphonia	7428	VHL	ORPHA:276621
HP:0001618	Dysphonia	1743	DLST	ORPHA:29072
HP:0001618	Dysphonia	4191	MDH2	ORPHA:29072
HP:0001618	Dysphonia	5979	RET	ORPHA:29072
HP:0001618	Dysphonia	5979	RET	ORPHA:276621
HP:0001618	Dysphonia	6389	SDHA	ORPHA:29072
HP:0001618	Dysphonia	23095	KIF1B	ORPHA:29072
HP:0001618	Dysphonia	2271	FH	ORPHA:29072
HP:0001618	Dysphonia	8402	SLC25A11	ORPHA:29072
HP:0001618	Dysphonia	54949	SDHAF2	ORPHA:29072
HP:0001618	Dysphonia	55654	TMEM127	ORPHA:29072
HP:0001618	Dysphonia	4763	NF1	ORPHA:29072
HP:0001618	Dysphonia	6391	SDHC	ORPHA:29072
HP:0001618	Dysphonia	6392	SDHD	ORPHA:29072
HP:0001618	Dysphonia	6392	SDHD	ORPHA:276621
HP:0001618	Dysphonia	6390	SDHB	ORPHA:29072
HP:0001618	Dysphonia	6390	SDHB	ORPHA:276621
HP:0001618	Dysphonia	4149	MAX	ORPHA:29072
HP:0001618	Dysphonia	6804	STX1A	ORPHA:904
HP:0001618	Dysphonia	7461	CLIP2	ORPHA:904
HP:0001618	Dysphonia	84277	DNAJC30	ORPHA:904
HP:0001618	Dysphonia	8468	FKBP6	ORPHA:904
HP:0001618	Dysphonia	5982	RFC2	ORPHA:904
HP:0001618	Dysphonia	2969	GTF2I	ORPHA:904
HP:0001618	Dysphonia	3984	LIMK1	ORPHA:904
HP:0001618	Dysphonia	9569	GTF2IRD1	ORPHA:904
HP:0001618	Dysphonia	155382	VPS37D	ORPHA:904
HP:0001618	Dysphonia	155368	METTL27	ORPHA:904
HP:0001618	Dysphonia	114049	BUD23	ORPHA:904
HP:0001618	Dysphonia	7458	EIF4H	ORPHA:904
HP:0001618	Dysphonia	84163	GTF2IRD2	ORPHA:904
HP:0001618	Dysphonia	26608	TBL2	ORPHA:904
HP:0001618	Dysphonia	653361	NCF1	ORPHA:904
HP:0001618	Dysphonia	135886	TMEM270	ORPHA:904
HP:0001618	Dysphonia	9031	BAZ1B	ORPHA:904
HP:0001618	Dysphonia	2006	ELN	ORPHA:904
HP:0001618	Dysphonia	10382	TUBB4A	ORPHA:98805
HP:0001618	Dysphonia	10382	TUBB4A	OMIM:128101
HP:0001618	Dysphonia	6650	CAPN15	OMIM:619318
HP:0001618	Dysphonia	27235	COQ2	ORPHA:227510
HP:0001618	Dysphonia	5428	POLG	OMIM:258450
HP:0001618	Dysphonia	80025	PANK2	OMIM:234200
HP:0001618	Dysphonia	4758	NEU1	ORPHA:93399
HP:0001618	Dysphonia	92667	MGME1	ORPHA:352447
HP:0001618	Dysphonia	92667	MGME1	OMIM:615084
HP:0001618	Dysphonia	3181	HNRNPA2B1	OMIM:620460
HP:0001618	Dysphonia	60482	SLC5A7	OMIM:617143
HP:0001618	Dysphonia	60482	SLC5A7	ORPHA:98914
HP:0001618	Dysphonia	2670	GFAP	ORPHA:363722
HP:0001618	Dysphonia	55145	THAP1	OMIM:602629
HP:0001618	Dysphonia	4649	MYO9A	ORPHA:98914
HP:0001618	Dysphonia	1305	COL13A1	ORPHA:98914
HP:0001618	Dysphonia	1103	CHAT	ORPHA:98914
HP:0001618	Dysphonia	6576	SLC25A1	ORPHA:98914
HP:0001618	Dysphonia	6843	VAMP1	ORPHA:98914
HP:0001618	Dysphonia	375790	AGRN	ORPHA:98914
HP:0001618	Dysphonia	127833	SYT2	ORPHA:98914
HP:0001618	Dysphonia	6572	SLC18A3	ORPHA:98914
HP:0001618	Dysphonia	6616	SNAP25	ORPHA:98914
HP:0001618	Dysphonia	427	ASAH1	ORPHA:333
HP:0001618	Dysphonia	8575	PRKRA	ORPHA:210571
HP:0001618	Dysphonia	8575	PRKRA	OMIM:612067
HP:0001618	Dysphonia	1896	EDA	OMIM:305100
HP:0001618	Dysphonia	1716	DGUOK	OMIM:617070
HP:0001618	Dysphonia	1716	DGUOK	ORPHA:329314
HP:0001618	Dysphonia	729359	PLIN4	OMIM:601846
HP:0001618	Dysphonia	3300	DNAJB2	OMIM:614881
HP:0001618	Dysphonia	50484	RRM2B	OMIM:613077
HP:0001618	Dysphonia	1788	DNMT3A	ORPHA:276621
HP:0001618	Dysphonia	2034	EPAS1	ORPHA:276621
HP:0001618	Dysphonia	81846	SBF2	ORPHA:99956
HP:0001618	Dysphonia	404672	GTF2H5	ORPHA:33364
HP:0001618	Dysphonia	833	CARS1	ORPHA:33364
HP:0001618	Dysphonia	2068	ERCC2	ORPHA:33364
HP:0001618	Dysphonia	7737	RNF113A	ORPHA:33364
HP:0001618	Dysphonia	136647	MPLKIP	ORPHA:33364
HP:0001618	Dysphonia	6897	TARS1	ORPHA:33364
HP:0001618	Dysphonia	16	AARS1	ORPHA:33364
HP:0001618	Dysphonia	2071	ERCC3	ORPHA:33364
HP:0001618	Dysphonia	2961	GTF2E2	ORPHA:33364
HP:0001618	Dysphonia	29967	LRP12	OMIM:164310
HP:0001618	Dysphonia	25978	CHMP2B	ORPHA:803
HP:0001618	Dysphonia	3178	HNRNPA1	ORPHA:803
HP:0001618	Dysphonia	8148	TAF15	ORPHA:803
HP:0001618	Dysphonia	5445	PON2	ORPHA:803
HP:0001618	Dysphonia	9217	VAPB	ORPHA:803
HP:0001618	Dysphonia	8878	SQSTM1	ORPHA:803
HP:0001618	Dysphonia	5630	PRPH	ORPHA:803
HP:0001618	Dysphonia	29110	TBK1	ORPHA:803
HP:0001618	Dysphonia	55830	GLT8D1	ORPHA:803
HP:0001618	Dysphonia	755	CFAP410	ORPHA:803
HP:0001618	Dysphonia	10891	PPARGC1A	ORPHA:803
HP:0001618	Dysphonia	6647	SOD1	ORPHA:803
HP:0001618	Dysphonia	10133	OPTN	ORPHA:803
HP:0001618	Dysphonia	1639	DCTN1	ORPHA:803
HP:0001618	Dysphonia	9896	FIG4	ORPHA:803
HP:0001618	Dysphonia	5444	PON1	ORPHA:803
HP:0001618	Dysphonia	5446	PON3	ORPHA:803
HP:0001618	Dysphonia	4744	NEFH	ORPHA:803
HP:0001618	Dysphonia	5216	PFN1	ORPHA:803
HP:0001618	Dysphonia	9782	MATR3	ORPHA:803
HP:0001618	Dysphonia	54209	TREM2	ORPHA:803
HP:0001618	Dysphonia	7415	VCP	ORPHA:803
HP:0001618	Dysphonia	283	ANG	ORPHA:803
HP:0001618	Dysphonia	23435	TARDBP	ORPHA:803
HP:0001618	Dysphonia	29978	UBQLN2	ORPHA:803
HP:0001618	Dysphonia	2733	GLE1	ORPHA:803
HP:0001618	Dysphonia	2521	FUS	ORPHA:803
HP:0001618	Dysphonia	4750	NEK1	ORPHA:803
HP:0001618	Dysphonia	6311	ATXN2	ORPHA:803
HP:0001618	Dysphonia	1610	DAO	ORPHA:803
HP:0001618	Dysphonia	2066	ERBB4	ORPHA:803
HP:0001618	Dysphonia	311	ANXA11	ORPHA:803
HP:0001618	Dysphonia	23025	UNC13A	ORPHA:803
HP:0001618	Dysphonia	899	CCNF	ORPHA:803
HP:0001618	Dysphonia	400916	CHCHD10	ORPHA:803
HP:0001618	Dysphonia	7849	PAX8	ORPHA:95712
HP:0001618	Dysphonia	1482	NKX2-5	ORPHA:95712
HP:0001618	Dysphonia	3339	HSPG2	ORPHA:800
HP:0001618	Dysphonia	56652	TWNK	OMIM:609286
HP:0001618	Dysphonia	3098	HK1	OMIM:605285
HP:0001618	Dysphonia	22	ABCB7	OMIM:301310
HP:0001618	Dysphonia	367	AR	ORPHA:481
HP:0001618	Dysphonia	79734	KCTD17	OMIM:616398
HP:0001618	Dysphonia	51305	KCNK9	ORPHA:166108
HP:0001618	Dysphonia	246243	RNASEH1	OMIM:616479
HP:0001618	Dysphonia	27010	TPK1	OMIM:614458
HP:0001618	Dysphonia	64374	SIL1	ORPHA:559
HP:0001618	Dysphonia	2395	FXN	ORPHA:95
HP:0001618	Dysphonia	9927	MFN2	ORPHA:99947
HP:0001618	Dysphonia	343641	TGM6	OMIM:613908
HP:0001618	Dysphonia	343641	TGM6	ORPHA:276193
HP:0001618	Dysphonia	5654	HTRA1	ORPHA:199354
HP:0001618	Dysphonia	4841	NONO	ORPHA:466791
HP:0001618	Dysphonia	5917	RARS1	OMIM:616140
HP:0001618	Dysphonia	5917	RARS1	ORPHA:438114
HP:0001618	Dysphonia	5832	ALDH18A1	OMIM:616586
HP:0001618	Dysphonia	1593	CYP27A1	OMIM:213700
HP:0001618	Dysphonia	9289	ADGRG1	ORPHA:98889
HP:0001618	Dysphonia	5297	PI4KA	ORPHA:98889
HP:0001618	Dysphonia	27286	SRPX2	ORPHA:98889
HP:0001618	Dysphonia	57679	ALS2	OMIM:606353
HP:0001618	Dysphonia	4001	LMNB1	OMIM:169500
HP:0001618	Dysphonia	2583	B4GALNT1	ORPHA:101006
HP:0001618	Dysphonia	116150	NUS1	OMIM:617082
HP:0001618	Dysphonia	22872	SEC31A	OMIM:618651
HP:0001618	Dysphonia	23503	ZFYVE26	ORPHA:100996
HP:0001618	Dysphonia	60	ACTB	OMIM:607371
HP:0001618	Dysphonia	3145	HMBS	ORPHA:79276
HP:0001618	Dysphonia	4854	NOTCH3	OMIM:125310
HP:0001618	Dysphonia	25885	POLR1A	OMIM:616462
HP:0001618	Dysphonia	55823	VPS11	OMIM:619637
HP:0001618	Dysphonia	2778	GNAS	ORPHA:94089
HP:0001618	Dysphonia	2778	GNAS	ORPHA:79443
HP:0001618	Dysphonia	2778	GNAS	ORPHA:79444
HP:0001618	Dysphonia	8675	STX16	ORPHA:94089
HP:0001618	Dysphonia	518	ATP5MC3	OMIM:619681
HP:0001618	Dysphonia	1293	COL6A3	OMIM:616411
HP:0001618	Dysphonia	1293	COL6A3	ORPHA:464440
HP:0001618	Dysphonia	23230	VPS13A	ORPHA:2388
HP:0001618	Dysphonia	9256	TSPOAP1	OMIM:620453
HP:0004871	Perineal fistula	1024	CDK8	OMIM:618748
HP:0004871	Perineal fistula	6299	SALL1	OMIM:107480
HP:0004871	Perineal fistula	6299	SALL1	ORPHA:857
HP:0004871	Perineal fistula	51339	DACT1	ORPHA:857
HP:0004871	Perineal fistula	9401	RECQL4	OMIM:218600
HP:0004871	Perineal fistula	79803	HPS6	OMIM:614075
HP:0004871	Perineal fistula	26123	TCTN3	ORPHA:2753
HP:0004871	Perineal fistula	6850	SYK	OMIM:619381
HP:0004871	Perineal fistula	4689	NCF4	OMIM:613960
HP:0004871	Perineal fistula	2000	ELF4	OMIM:301074
HP:0004871	Perineal fistula	917	CD3G	OMIM:615607
HP:0004871	Perineal fistula	5317	PKP1	ORPHA:158668
HP:0004871	Perineal fistula	7040	TGFB1	OMIM:618213
HP:0004871	Perineal fistula	8085	KMT2D	OMIM:147920
HP:0004871	Perineal fistula	7403	KDM6A	OMIM:147920
HP:0004872	Incisional hernia	1277	COL1A1	ORPHA:287
HP:0004872	Incisional hernia	1289	COL5A1	ORPHA:287
HP:0004872	Incisional hernia	1290	COL5A2	ORPHA:287
HP:0004872	Incisional hernia	2200	FBN1	OMIM:154700
HP:0004875	Neonatal inspiratory stridor	6329	SCN4A	ORPHA:684
HP:0004875	Neonatal inspiratory stridor	3835	KIF22	ORPHA:93360
HP:0004876	Spontaneous neonatal pneumothorax	729230	CCR2	OMIM:219600
HP:0004876	Spontaneous neonatal pneumothorax	21	ABCA3	ORPHA:217563
HP:0004876	Spontaneous neonatal pneumothorax	6439	SFTPB	ORPHA:217563
HP:0004876	Spontaneous neonatal pneumothorax	9509	ADAMTS2	OMIM:225410
HP:0004878	Intercostal muscle weakness	59341	TRPV4	OMIM:606071
HP:0004878	Intercostal muscle weakness	57190	SELENON	ORPHA:2020
HP:0004878	Intercostal muscle weakness	58	ACTA1	ORPHA:2020
HP:0004878	Intercostal muscle weakness	4633	MYL2	ORPHA:2020
HP:0004878	Intercostal muscle weakness	3679	ITGA7	ORPHA:2020
HP:0004878	Intercostal muscle weakness	7169	TPM2	ORPHA:2020
HP:0004878	Intercostal muscle weakness	9200	HACD1	ORPHA:2020
HP:0004878	Intercostal muscle weakness	7170	TPM3	ORPHA:2020
HP:0004878	Intercostal muscle weakness	51776	MAP3K20	ORPHA:2020
HP:0004878	Intercostal muscle weakness	7443	VRK1	OMIM:607596
HP:0004878	Intercostal muscle weakness	3908	LAMA2	ORPHA:258
HP:0004879	Intermittent hyperventilation	8573	CASK	OMIM:300749
HP:0004879	Intermittent hyperventilation	4204	MECP2	OMIM:312750
HP:0004879	Intermittent hyperventilation	6857	SYT1	ORPHA:522077
HP:0004879	Intermittent hyperventilation	6925	TCF4	OMIM:610954
HP:0004879	Intermittent hyperventilation	26047	CNTNAP2	ORPHA:163681
HP:0004879	Intermittent hyperventilation	2203	FBP1	ORPHA:348
HP:0001611	Hypernasal speech	4487	MSX1	ORPHA:141291
HP:0001611	Hypernasal speech	4487	MSX1	ORPHA:199306
HP:0001611	Hypernasal speech	5818	NECTIN1	ORPHA:141291
HP:0001611	Hypernasal speech	5818	NECTIN1	ORPHA:199306
HP:0001611	Hypernasal speech	8626	TP63	ORPHA:141291
HP:0001611	Hypernasal speech	8626	TP63	ORPHA:199306
HP:0001611	Hypernasal speech	3664	IRF6	ORPHA:141291
HP:0001611	Hypernasal speech	3664	IRF6	ORPHA:199306
HP:0001611	Hypernasal speech	353116	RILPL1	OMIM:619790
HP:0001611	Hypernasal speech	8036	SHOC2	OMIM:607721
HP:0001611	Hypernasal speech	4621	MYH3	ORPHA:2053
HP:0001611	Hypernasal speech	4621	MYH3	OMIM:193700
HP:0001611	Hypernasal speech	259232	NALCN	ORPHA:2053
HP:0001611	Hypernasal speech	4593	MUSK	OMIM:616325
HP:0001611	Hypernasal speech	29926	GMPPA	OMIM:615510
HP:0001611	Hypernasal speech	29926	GMPPA	ORPHA:869
HP:0001611	Hypernasal speech	79912	PYROXD1	OMIM:617258
HP:0001611	Hypernasal speech	6418	SET	OMIM:618106
HP:0001611	Hypernasal speech	90459	ERI1	OMIM:620663
HP:0001611	Hypernasal speech	6571	SLC18A2	ORPHA:352649
HP:0001611	Hypernasal speech	6571	SLC18A2	OMIM:618049
HP:0001611	Hypernasal speech	100033413	SNORD116-1	OMIM:176270
HP:0001611	Hypernasal speech	8924	HERC2	OMIM:176270
HP:0001611	Hypernasal speech	23742	NPAP1	OMIM:176270
HP:0001611	Hypernasal speech	338433	SNORD115-1	OMIM:176270
HP:0001611	Hypernasal speech	54551	MAGEL2	OMIM:176270
HP:0001611	Hypernasal speech	7681	MKRN3	OMIM:176270
HP:0001611	Hypernasal speech	145624	PWAR1	OMIM:176270
HP:0001611	Hypernasal speech	3653	IPW	OMIM:176270
HP:0001611	Hypernasal speech	791114	PWRN1	OMIM:176270
HP:0001611	Hypernasal speech	5339	PLEC	ORPHA:254361
HP:0001611	Hypernasal speech	6687	SPG7	ORPHA:99013
HP:0001611	Hypernasal speech	7314	UBB	ORPHA:99772
HP:0001611	Hypernasal speech	7314	UBB	ORPHA:155878
HP:0001611	Hypernasal speech	57822	GRHL3	ORPHA:99772
HP:0001611	Hypernasal speech	57822	GRHL3	ORPHA:155878
HP:0001611	Hypernasal speech	4854	NOTCH3	OMIM:130720
HP:0001611	Hypernasal speech	92667	MGME1	OMIM:615084
HP:0001611	Hypernasal speech	92667	MGME1	ORPHA:352447
HP:0001611	Hypernasal speech	57589	RIC1	ORPHA:199306
HP:0001611	Hypernasal speech	1739	DLG1	ORPHA:199306
HP:0001611	Hypernasal speech	999	CDH1	ORPHA:199306
HP:0001611	Hypernasal speech	5156	PDGFRA	ORPHA:199306
HP:0001611	Hypernasal speech	1748	DLX4	ORPHA:199306
HP:0001611	Hypernasal speech	652	BMP4	ORPHA:199306
HP:0001611	Hypernasal speech	22837	COBLL1	ORPHA:199306
HP:0001611	Hypernasal speech	54848	ARHGEF38	ORPHA:199306
HP:0001611	Hypernasal speech	9411	ARHGAP29	ORPHA:199306
HP:0001611	Hypernasal speech	84466	MEGF10	OMIM:614399
HP:0001611	Hypernasal speech	84466	MEGF10	OMIM:620249
HP:0001611	Hypernasal speech	10847	SRCAP	ORPHA:2044
HP:0001611	Hypernasal speech	51114	ZDHHC9	ORPHA:776
HP:0001611	Hypernasal speech	65109	UPF3B	ORPHA:776
HP:0001611	Hypernasal speech	65109	UPF3B	OMIM:300676
HP:0001611	Hypernasal speech	9968	MED12	ORPHA:776
HP:0001611	Hypernasal speech	9968	MED12	OMIM:309520
HP:0001611	Hypernasal speech	57190	SELENON	OMIM:602771
HP:0001611	Hypernasal speech	84665	MYPN	ORPHA:171881
HP:0001611	Hypernasal speech	7169	TPM2	ORPHA:171881
HP:0001611	Hypernasal speech	7170	TPM3	ORPHA:171881
HP:0001611	Hypernasal speech	146862	UNC45B	OMIM:619178
HP:0001611	Hypernasal speech	23545	ATP6V0A2	ORPHA:2834
HP:0001611	Hypernasal speech	23545	ATP6V0A2	OMIM:278250
HP:0001611	Hypernasal speech	29967	LRP12	OMIM:164310
HP:0001611	Hypernasal speech	1312	COMT	ORPHA:567
HP:0001611	Hypernasal speech	221037	JMJD1C	ORPHA:567
HP:0001611	Hypernasal speech	2812	GP1BB	ORPHA:567
HP:0001611	Hypernasal speech	6239	RREB1	ORPHA:567
HP:0001611	Hypernasal speech	6899	TBX1	ORPHA:567
HP:0001611	Hypernasal speech	6899	TBX1	OMIM:188400
HP:0001611	Hypernasal speech	6899	TBX1	ORPHA:1727
HP:0001611	Hypernasal speech	6899	TBX1	OMIM:192430
HP:0001611	Hypernasal speech	7290	HIRA	ORPHA:567
HP:0001611	Hypernasal speech	9632	SEC24C	ORPHA:567
HP:0001611	Hypernasal speech	7353	UFD1	ORPHA:567
HP:0001611	Hypernasal speech	421	ARVCF	ORPHA:567
HP:0001611	Hypernasal speech	9782	MATR3	ORPHA:600
HP:0001611	Hypernasal speech	7020	TFAP2A	OMIM:113620
HP:0001611	Hypernasal speech	7020	TFAP2A	ORPHA:1297
HP:0001611	Hypernasal speech	1781	DYNC1I2	OMIM:618492
HP:0001611	Hypernasal speech	3977	LIFR	OMIM:601559
HP:0001611	Hypernasal speech	127833	SYT2	OMIM:619461
HP:0001611	Hypernasal speech	127833	SYT2	ORPHA:98914
HP:0001611	Hypernasal speech	9731	CEP104	OMIM:619988
HP:0001611	Hypernasal speech	6638	SNRPN	ORPHA:177907
HP:0001611	Hypernasal speech	9531	BAG3	OMIM:612954
HP:0001611	Hypernasal speech	9244	CRLF1	OMIM:272430
HP:0001611	Hypernasal speech	6611	SMS	ORPHA:3063
HP:0001611	Hypernasal speech	6611	SMS	OMIM:309583
HP:0001611	Hypernasal speech	6628	SNRPB	OMIM:117650
HP:0001611	Hypernasal speech	27286	SRPX2	ORPHA:163721
HP:0001611	Hypernasal speech	2903	GRIN2A	ORPHA:163721
HP:0001611	Hypernasal speech	84617	TUBB6	OMIM:617732
HP:0001611	Hypernasal speech	57863	CADM3	OMIM:619519
HP:0001611	Hypernasal speech	60684	TRAPPC11	ORPHA:869
HP:0001611	Hypernasal speech	8086	AAAS	ORPHA:869
HP:0001611	Hypernasal speech	93986	FOXP2	ORPHA:251061
HP:0001611	Hypernasal speech	4841	NONO	OMIM:300967
HP:0001611	Hypernasal speech	4841	NONO	ORPHA:466791
HP:0001611	Hypernasal speech	23096	IQSEC2	ORPHA:217377
HP:0001611	Hypernasal speech	23261	CAMTA1	OMIM:614756
HP:0001611	Hypernasal speech	60482	SLC5A7	ORPHA:98914
HP:0001611	Hypernasal speech	4649	MYO9A	ORPHA:98914
HP:0001611	Hypernasal speech	1305	COL13A1	ORPHA:98914
HP:0001611	Hypernasal speech	1103	CHAT	ORPHA:98914
HP:0001611	Hypernasal speech	6576	SLC25A1	ORPHA:98914
HP:0001611	Hypernasal speech	6843	VAMP1	ORPHA:98914
HP:0001611	Hypernasal speech	375790	AGRN	ORPHA:98914
HP:0001611	Hypernasal speech	6572	SLC18A3	ORPHA:98914
HP:0001611	Hypernasal speech	6616	SNAP25	ORPHA:98914
HP:0001611	Hypernasal speech	10472	ZBTB18	OMIM:612337
HP:0001611	Hypernasal speech	54487	DGCR8	OMIM:192430
HP:0001611	Hypernasal speech	8214	DGCR6	OMIM:192430
HP:0001611	Hypernasal speech	8220	ESS2	OMIM:192430
HP:0001611	Hypernasal speech	9993	DGCR2	OMIM:192430
HP:0001611	Hypernasal speech	6519	SLC3A1	ORPHA:163690
HP:0001611	Hypernasal speech	6519	SLC3A1	ORPHA:163693
HP:0001611	Hypernasal speech	9581	PREPL	ORPHA:163690
HP:0001611	Hypernasal speech	9581	PREPL	ORPHA:163693
HP:0001611	Hypernasal speech	9499	MYOT	ORPHA:98911
HP:0001611	Hypernasal speech	8106	PABPN1	OMIM:164300
HP:0001611	Hypernasal speech	6329	SCN4A	OMIM:620351
HP:0001611	Hypernasal speech	5495	PPM1B	ORPHA:163693
HP:0001611	Hypernasal speech	79823	CAMKMT	ORPHA:163693
HP:0001611	Hypernasal speech	139285	AMER1	OMIM:300373
HP:0001611	Hypernasal speech	10084	PQBP1	OMIM:309500
HP:0001611	Hypernasal speech	4256	MGP	OMIM:245150
HP:0001611	Hypernasal speech	5116	PCNT	ORPHA:2637
HP:0001611	Hypernasal speech	284058	KANSL1	OMIM:610443
HP:0001611	Hypernasal speech	4848	CNOT2	OMIM:618608
HP:0001611	Hypernasal speech	23133	PHF8	OMIM:300263
HP:0001611	Hypernasal speech	11141	IL1RAPL1	OMIM:300143
HP:0001611	Hypernasal speech	56652	TWNK	OMIM:607459
HP:0001611	Hypernasal speech	5428	POLG	OMIM:607459
HP:0001611	Hypernasal speech	10533	ATG7	OMIM:619422
HP:0001611	Hypernasal speech	101929726	MYMX	OMIM:619941
HP:0001611	Hypernasal speech	1297	COL9A1	OMIM:614134
HP:0001615	Hoarse cry	3909	LAMA3	ORPHA:79404
HP:0001615	Hoarse cry	3909	LAMA3	OMIM:245660
HP:0001615	Hoarse cry	3918	LAMC2	ORPHA:79404
HP:0001615	Hoarse cry	3914	LAMB3	ORPHA:79404
HP:0001615	Hoarse cry	427	ASAH1	ORPHA:333
HP:0001615	Hoarse cry	427	ASAH1	OMIM:228000
HP:0001615	Hoarse cry	7849	PAX8	OMIM:218700
HP:0001615	Hoarse cry	7849	PAX8	ORPHA:95713
HP:0001615	Hoarse cry	23556	PIGN	ORPHA:280633
HP:0001615	Hoarse cry	3852	KRT5	OMIM:131760
HP:0001615	Hoarse cry	3861	KRT14	OMIM:131760
HP:0001615	Hoarse cry	8425	LTBP4	OMIM:613177
HP:0001615	Hoarse cry	50506	DUOX2	ORPHA:226316
HP:0001615	Hoarse cry	7080	NKX2-1	ORPHA:95713
HP:0001615	Hoarse cry	1482	NKX2-5	ORPHA:95713
HP:0001615	Hoarse cry	2304	FOXE1	ORPHA:95713
HP:0001615	Hoarse cry	7253	TSHR	ORPHA:95713
HP:0001615	Hoarse cry	5172	SLC26A4	ORPHA:95713
HP:0001615	Hoarse cry	2146	EZH2	OMIM:277590
HP:0001615	Hoarse cry	388015	RTL1	ORPHA:96334
HP:0001615	Hoarse cry	8788	DLK1	ORPHA:96334
HP:0001615	Hoarse cry	55384	MEG3	ORPHA:96334
HP:0001615	Hoarse cry	7252	TSHB	OMIM:275100
HP:0001615	Hoarse cry	7252	TSHB	ORPHA:90674
HP:0001620	Abnormally high-pitched voice	3981	LIG4	ORPHA:235
HP:0001620	Abnormally high-pitched voice	54888	NSUN2	ORPHA:235
HP:0001620	Abnormally high-pitched voice	57190	SELENON	ORPHA:324604
HP:0001620	Abnormally high-pitched voice	57190	SELENON	OMIM:602771
HP:0001620	Abnormally high-pitched voice	4625	MYH7	ORPHA:324604
HP:0001620	Abnormally high-pitched voice	7273	TTN	ORPHA:324604
HP:0001620	Abnormally high-pitched voice	5034	P4HB	OMIM:112240
HP:0001620	Abnormally high-pitched voice	26580	BSCL2	OMIM:269700
HP:0001620	Abnormally high-pitched voice	22880	MORC2	OMIM:616688
HP:0001620	Abnormally high-pitched voice	22880	MORC2	ORPHA:466768
HP:0001620	Abnormally high-pitched voice	3704	ITPA	OMIM:616647
HP:0001620	Abnormally high-pitched voice	9719	ADAMTSL2	OMIM:231050
HP:0001620	Abnormally high-pitched voice	4591	TRIM37	ORPHA:2576
HP:0001620	Abnormally high-pitched voice	4591	TRIM37	OMIM:253250
HP:0001620	Abnormally high-pitched voice	2887	GRB10	ORPHA:96182
HP:0001620	Abnormally high-pitched voice	4000	LMNA	ORPHA:740
HP:0001620	Abnormally high-pitched voice	10269	ZMPSTE24	ORPHA:740
HP:0001620	Abnormally high-pitched voice	5932	RBBP8	OMIM:606744
HP:0001620	Abnormally high-pitched voice	54453	RIN2	ORPHA:217335
HP:0001620	Abnormally high-pitched voice	54453	RIN2	OMIM:613075
HP:0001620	Abnormally high-pitched voice	9871	SEC24D	OMIM:616294
HP:0001620	Abnormally high-pitched voice	2690	GHR	OMIM:262500
HP:0001620	Abnormally high-pitched voice	2690	GHR	ORPHA:633
HP:0001620	Abnormally high-pitched voice	10651	MTX2	OMIM:619127
HP:0001620	Abnormally high-pitched voice	367	AR	ORPHA:90797
HP:0001620	Abnormally high-pitched voice	641	BLM	OMIM:210900
HP:0001620	Abnormally high-pitched voice	10847	SRCAP	ORPHA:2044
HP:0001620	Abnormally high-pitched voice	50485	SMARCAL1	OMIM:242900
HP:0001620	Abnormally high-pitched voice	7486	WRN	OMIM:277700
HP:0001620	Abnormally high-pitched voice	9968	MED12	OMIM:305450
HP:0001620	Abnormally high-pitched voice	84919	PPP1R15B	OMIM:616817
HP:0001620	Abnormally high-pitched voice	84919	PPP1R15B	ORPHA:391408
HP:0001620	Abnormally high-pitched voice	93587	TRMT10A	ORPHA:391408
HP:0001620	Abnormally high-pitched voice	6777	STAT5B	OMIM:245590
HP:0001620	Abnormally high-pitched voice	57492	ARID1B	OMIM:135900
HP:0001620	Abnormally high-pitched voice	2332	FMR1	ORPHA:261483
HP:0001620	Abnormally high-pitched voice	7518	XRCC4	OMIM:616541
HP:0001620	Abnormally high-pitched voice	4193	MDM2	OMIM:618681
HP:0001620	Abnormally high-pitched voice	5116	PCNT	ORPHA:2637
HP:0001620	Abnormally high-pitched voice	5116	PCNT	OMIM:210720
HP:0001620	Abnormally high-pitched voice	51594	NBAS	OMIM:614800
HP:0001620	Abnormally high-pitched voice	63901	FAM111A	OMIM:127000
HP:0001620	Abnormally high-pitched voice	63901	FAM111A	ORPHA:93325
HP:0001620	Abnormally high-pitched voice	3339	HSPG2	OMIM:255800
HP:0001620	Abnormally high-pitched voice	3339	HSPG2	ORPHA:800
HP:0001620	Abnormally high-pitched voice	2072	ERCC4	OMIM:610965
HP:0001620	Abnormally high-pitched voice	9927	MFN2	OMIM:617087
HP:0001620	Abnormally high-pitched voice	5424	POLD1	OMIM:615381
HP:0001620	Abnormally high-pitched voice	1501	CTNND2	ORPHA:281
HP:0001620	Abnormally high-pitched voice	9037	SEMA5A	ORPHA:281
HP:0001620	Abnormally high-pitched voice	127833	SYT2	OMIM:619461
HP:0001620	Abnormally high-pitched voice	1140	CHRNB1	OMIM:616313
HP:0001620	Abnormally high-pitched voice	5000	ORC4	OMIM:613800
HP:0001620	Abnormally high-pitched voice	25886	POC1A	OMIM:614813
HP:0001620	Abnormally high-pitched voice	871	SERPINH1	OMIM:613848
HP:0001620	Abnormally high-pitched voice	3480	IGF1R	OMIM:270450
HP:0001612	Weak cry	2218	FKTN	ORPHA:272
HP:0001612	Weak cry	1145	CHRNE	OMIM:608931
HP:0001612	Weak cry	1145	CHRNE	OMIM:605809
HP:0001612	Weak cry	2673	GFPT1	OMIM:608931
HP:0001612	Weak cry	4728	NDUFS8	OMIM:618222
HP:0001612	Weak cry	5913	RAPSN	OMIM:618388
HP:0001612	Weak cry	5913	RAPSN	OMIM:616326
HP:0001612	Weak cry	157680	VPS13B	ORPHA:193
HP:0001612	Weak cry	1144	CHRND	OMIM:616322
HP:0001612	Weak cry	57128	LYRM4	OMIM:615595
HP:0001612	Weak cry	5393	EXOSC9	OMIM:618065
HP:0001612	Weak cry	1103	CHAT	OMIM:254210
HP:0001612	Weak cry	1103	CHAT	ORPHA:98914
HP:0001612	Weak cry	9453	GGPS1	OMIM:619518
HP:0001612	Weak cry	1134	CHRNA1	OMIM:608930
HP:0001612	Weak cry	546	ATRX	OMIM:301040
HP:0001612	Weak cry	3909	LAMA3	OMIM:245660
HP:0001612	Weak cry	4976	OPA1	OMIM:616896
HP:0001612	Weak cry	6492	SIM1	ORPHA:398079
HP:0001612	Weak cry	60482	SLC5A7	ORPHA:98914
HP:0001612	Weak cry	4649	MYO9A	ORPHA:98914
HP:0001612	Weak cry	1305	COL13A1	ORPHA:98914
HP:0001612	Weak cry	6576	SLC25A1	ORPHA:98914
HP:0001612	Weak cry	6843	VAMP1	ORPHA:98914
HP:0001612	Weak cry	375790	AGRN	ORPHA:98914
HP:0001612	Weak cry	127833	SYT2	ORPHA:98914
HP:0001612	Weak cry	127833	SYT2	OMIM:619461
HP:0001612	Weak cry	6572	SLC18A3	ORPHA:98914
HP:0001612	Weak cry	6616	SNAP25	ORPHA:98914
HP:0001612	Weak cry	8292	COLQ	ORPHA:98915
HP:0001612	Weak cry	8292	COLQ	OMIM:603034
HP:0001612	Weak cry	3913	LAMB2	ORPHA:98915
HP:0001612	Weak cry	9200	HACD1	OMIM:619967
HP:0001612	Weak cry	3508	IGHMBP2	OMIM:604320
HP:0001612	Weak cry	443	ASPA	ORPHA:314911
HP:0001612	Weak cry	1410	CRYAB	OMIM:613869
HP:0001612	Weak cry	6329	SCN4A	OMIM:620351
HP:0001612	Weak cry	6329	SCN4A	OMIM:620369
HP:0001612	Weak cry	3908	LAMA2	ORPHA:258
HP:0001612	Weak cry	79068	FTO	OMIM:612938
HP:0001612	Weak cry	427	ASAH1	ORPHA:333
HP:0001612	Weak cry	79989	IFT56	OMIM:619534
HP:0001612	Weak cry	4358	MPV17	OMIM:256810
HP:0001612	Weak cry	25836	NIPBL	OMIM:122470
HP:0001612	Weak cry	54551	MAGEL2	ORPHA:398069
HP:0001612	Weak cry	54551	MAGEL2	OMIM:615547
HP:0001612	Weak cry	5824	PEX19	OMIM:614886
HP:0001612	Weak cry	6261	RYR1	ORPHA:324581
HP:0001612	Weak cry	129285	PPP1R21	OMIM:619383
HP:0001612	Weak cry	7317	UBA1	OMIM:301830
HP:0001612	Weak cry	7170	TPM3	OMIM:255310
HP:0001612	Weak cry	57017	COQ9	OMIM:614654
HP:0001612	Weak cry	7407	VARS1	OMIM:617802
HP:0001612	Weak cry	6638	SNRPN	ORPHA:177907
HP:0001612	Weak cry	9325	TRIP4	ORPHA:486815
HP:0001612	Weak cry	8085	KMT2D	OMIM:147920
HP:0001612	Weak cry	7403	KDM6A	OMIM:147920
HP:0003826	Stillbirth	3930	LBR	OMIM:215140
HP:0003826	Stillbirth	8200	GDF5	OMIM:200700
HP:0003826	Stillbirth	9321	TRIP11	OMIM:200600
HP:0003826	Stillbirth	7490	WT1	OMIM:608978
HP:0003826	Stillbirth	1836	SLC26A2	OMIM:600972
HP:0003826	Stillbirth	1836	SLC26A2	OMIM:256050
HP:0003826	Stillbirth	3572	IL6ST	OMIM:619751
HP:0003826	Stillbirth	1280	COL2A1	OMIM:151210
HP:0003826	Stillbirth	1280	COL2A1	OMIM:200610
HP:0003826	Stillbirth	4593	MUSK	OMIM:208150
HP:0003826	Stillbirth	153241	CEP120	OMIM:616300
HP:0003826	Stillbirth	2629	GBA1	ORPHA:85212
HP:0003826	Stillbirth	50814	NSDHL	OMIM:308050
HP:0003826	Stillbirth	100151683	RNU4ATAC	OMIM:210710
HP:0003826	Stillbirth	55005	RMND1	OMIM:614922
HP:0003826	Stillbirth	284086	NEK8	OMIM:615415
HP:0003826	Stillbirth	1063	CENPF	OMIM:243605
HP:0003826	Stillbirth	10269	ZMPSTE24	OMIM:275210
HP:0003826	Stillbirth	55165	CEP55	OMIM:236500
HP:0003826	Stillbirth	219844	HYLS1	OMIM:236680
HP:0003826	Stillbirth	5745	PTH1R	OMIM:215045
HP:0003826	Stillbirth	2317	FLNB	OMIM:108720
HP:0003826	Stillbirth	5447	POR	ORPHA:95699
HP:0003826	Stillbirth	28962	OSTM1	OMIM:259720
HP:0003826	Stillbirth	157570	ESCO2	OMIM:268300
HP:0003826	Stillbirth	10203	CALCRL	OMIM:618773
HP:0003826	Stillbirth	249	ALPL	OMIM:241500
HP:0003826	Stillbirth	5307	PITX1	OMIM:119800
HP:0003826	Stillbirth	1301	COL11A1	OMIM:228520
HP:0003826	Stillbirth	23426	GRIP1	OMIM:617667
HP:0003826	Stillbirth	2316	FLNA	OMIM:309350
HP:0003826	Stillbirth	2316	FLNA	OMIM:304120
HP:0003826	Stillbirth	163175	LGI4	OMIM:617468
HP:0003826	Stillbirth	23169	SLC35D1	OMIM:269250
HP:0003826	Stillbirth	26227	PHGDH	OMIM:256520
HP:0001627	Abnormal heart morphology	7291	TWIST1	ORPHA:794
HP:0001627	Abnormal heart morphology	7291	TWIST1	OMIM:101400
HP:0001627	Abnormal heart morphology	2263	FGFR2	ORPHA:794
HP:0001627	Abnormal heart morphology	2263	FGFR2	OMIM:101400
HP:0001627	Abnormal heart morphology	2261	FGFR3	ORPHA:794
HP:0001627	Abnormal heart morphology	10682	EBP	ORPHA:401973
HP:0001627	Abnormal heart morphology	4088	SMAD3	ORPHA:284984
HP:0001627	Abnormal heart morphology	58499	ZNF462	ORPHA:502430
HP:0001627	Abnormal heart morphology	6899	TBX1	ORPHA:3384
HP:0001627	Abnormal heart morphology	137814	NKX2-6	ORPHA:3384
HP:0001627	Abnormal heart morphology	23129	PLXND1	ORPHA:3384
HP:0001627	Abnormal heart morphology	388015	RTL1	ORPHA:254534
HP:0001627	Abnormal heart morphology	388015	RTL1	ORPHA:254525
HP:0001627	Abnormal heart morphology	8788	DLK1	ORPHA:254534
HP:0001627	Abnormal heart morphology	8788	DLK1	ORPHA:254525
HP:0001627	Abnormal heart morphology	55384	MEG3	ORPHA:254534
HP:0001627	Abnormal heart morphology	55384	MEG3	ORPHA:254525
HP:0001627	Abnormal heart morphology	1859	DYRK1A	ORPHA:268261
HP:0001627	Abnormal heart morphology	123606	NIPA1	ORPHA:261183
HP:0001627	Abnormal heart morphology	7283	TUBG1	ORPHA:261183
HP:0001627	Abnormal heart morphology	81614	NIPA2	ORPHA:261183
HP:0001627	Abnormal heart morphology	23592	LEMD3	ORPHA:166119
HP:0001627	Abnormal heart morphology	23394	ADNP	OMIM:615873
HP:0001627	Abnormal heart morphology	7355	SLC35A2	ORPHA:356961
HP:0001627	Abnormal heart morphology	5830	PEX5	OMIM:214110
HP:0001627	Abnormal heart morphology	9839	ZEB2	OMIM:235730
HP:0001627	Abnormal heart morphology	9839	ZEB2	ORPHA:261552
HP:0001627	Abnormal heart morphology	9839	ZEB2	ORPHA:261537
HP:0001627	Abnormal heart morphology	80144	FRAS1	OMIM:219000
HP:0001627	Abnormal heart morphology	4758	NEU1	ORPHA:93399
HP:0001627	Abnormal heart morphology	4758	NEU1	ORPHA:93400
HP:0001627	Abnormal heart morphology	23126	POGZ	ORPHA:468678
HP:0001627	Abnormal heart morphology	64324	NSD1	ORPHA:821
HP:0001627	Abnormal heart morphology	10297	APC2	ORPHA:821
HP:0001627	Abnormal heart morphology	55209	SETD5	ORPHA:404440
HP:0001627	Abnormal heart morphology	3190	HNRNPK	ORPHA:453504
HP:0001627	Abnormal heart morphology	3190	HNRNPK	ORPHA:352665
HP:0001627	Abnormal heart morphology	27125	AFF4	ORPHA:444077
HP:0001627	Abnormal heart morphology	10743	RAI1	ORPHA:477817
HP:0001627	Abnormal heart morphology	10743	RAI1	ORPHA:819
HP:0001627	Abnormal heart morphology	10743	RAI1	OMIM:182290
HP:0001627	Abnormal heart morphology	3728	JUP	OMIM:601214
HP:0001627	Abnormal heart morphology	1387	CREBBP	ORPHA:353281
HP:0001627	Abnormal heart morphology	1387	CREBBP	ORPHA:592574
HP:0001627	Abnormal heart morphology	1387	CREBBP	ORPHA:353277
HP:0001627	Abnormal heart morphology	2175	FANCA	OMIM:227650
HP:0001627	Abnormal heart morphology	8085	KMT2D	ORPHA:2322
HP:0001627	Abnormal heart morphology	7403	KDM6A	ORPHA:2322
HP:0001627	Abnormal heart morphology	2033	EP300	ORPHA:353284
HP:0001627	Abnormal heart morphology	2314	FLII	ORPHA:819
HP:0001627	Abnormal heart morphology	23096	IQSEC2	ORPHA:819
HP:0001627	Abnormal heart morphology	10522	DEAF1	ORPHA:819
HP:0001627	Abnormal heart morphology	6662	SOX9	OMIM:114290
HP:0001627	Abnormal heart morphology	7086	TKT	ORPHA:488618
HP:0001627	Abnormal heart morphology	5053	PAH	ORPHA:2209
HP:0001627	Abnormal heart morphology	3767	KCNJ11	ORPHA:99885
HP:0001627	Abnormal heart morphology	3767	KCNJ11	ORPHA:99886
HP:0001627	Abnormal heart morphology	6774	STAT3	ORPHA:99885
HP:0001627	Abnormal heart morphology	2645	GCK	ORPHA:99885
HP:0001627	Abnormal heart morphology	3651	PDX1	ORPHA:99885
HP:0001627	Abnormal heart morphology	6833	ABCC8	ORPHA:99885
HP:0001627	Abnormal heart morphology	6833	ABCC8	ORPHA:99886
HP:0001627	Abnormal heart morphology	3630	INS	ORPHA:99885
HP:0001627	Abnormal heart morphology	2067	ERCC1	OMIM:610758
HP:0001627	Abnormal heart morphology	346171	ZFP57	ORPHA:99886
HP:0001627	Abnormal heart morphology	57061	HYMAI	ORPHA:99886
HP:0001627	Abnormal heart morphology	5325	PLAGL1	ORPHA:99886
HP:0001627	Abnormal heart morphology	134218	DNAJC21	ORPHA:811
HP:0001627	Abnormal heart morphology	79631	EFL1	ORPHA:811
HP:0001627	Abnormal heart morphology	51119	SBDS	ORPHA:811
HP:0001627	Abnormal heart morphology	55650	PIGV	OMIM:239300
HP:0001627	Abnormal heart morphology	473	RERE	ORPHA:494344
HP:0001627	Abnormal heart morphology	65082	VPS33A	ORPHA:505248
HP:0001627	Abnormal heart morphology	51132	RLIM	OMIM:300978
HP:0001627	Abnormal heart morphology	284058	KANSL1	ORPHA:363958
HP:0001627	Abnormal heart morphology	284058	KANSL1	ORPHA:363965
HP:0001627	Abnormal heart morphology	113189	CHST14	ORPHA:2953
HP:0001627	Abnormal heart morphology	29940	DSE	ORPHA:2953
HP:0001627	Abnormal heart morphology	6597	SMARCA4	ORPHA:1465
HP:0001627	Abnormal heart morphology	6598	SMARCB1	ORPHA:1465
HP:0001627	Abnormal heart morphology	6598	SMARCB1	OMIM:614608
HP:0001627	Abnormal heart morphology	6659	SOX4	ORPHA:1465
HP:0001627	Abnormal heart morphology	8289	ARID1A	ORPHA:1465
HP:0001627	Abnormal heart morphology	8289	ARID1A	OMIM:614607
HP:0001627	Abnormal heart morphology	5977	DPF2	ORPHA:1465
HP:0001627	Abnormal heart morphology	6601	SMARCC2	ORPHA:1465
HP:0001627	Abnormal heart morphology	6602	SMARCD1	ORPHA:1465
HP:0001627	Abnormal heart morphology	57492	ARID1B	ORPHA:1465
HP:0001627	Abnormal heart morphology	196528	ARID2	ORPHA:1465
HP:0001627	Abnormal heart morphology	6605	SMARCE1	ORPHA:1465
HP:0001627	Abnormal heart morphology	6664	SOX11	ORPHA:1465
HP:0001627	Abnormal heart morphology	6331	SCN5A	ORPHA:1344
HP:0001627	Abnormal heart morphology	4878	NPPA	ORPHA:1344
HP:0001627	Abnormal heart morphology	23389	MED13L	ORPHA:369891
HP:0001627	Abnormal heart morphology	5339	PLEC	ORPHA:79401
HP:0001627	Abnormal heart morphology	3339	HSPG2	ORPHA:1865
HP:0001627	Abnormal heart morphology	22827	PUF60	ORPHA:508488
HP:0001627	Abnormal heart morphology	55863	TMEM126B	OMIM:618250
HP:0001627	Abnormal heart morphology	9401	RECQL4	OMIM:218600
HP:0001627	Abnormal heart morphology	25942	SIN3A	ORPHA:94065
HP:0001627	Abnormal heart morphology	57190	SELENON	ORPHA:2020
HP:0001627	Abnormal heart morphology	58	ACTA1	ORPHA:2020
HP:0001627	Abnormal heart morphology	4633	MYL2	ORPHA:2020
HP:0001627	Abnormal heart morphology	3679	ITGA7	ORPHA:2020
HP:0001627	Abnormal heart morphology	7169	TPM2	ORPHA:2020
HP:0001627	Abnormal heart morphology	9200	HACD1	ORPHA:2020
HP:0001627	Abnormal heart morphology	7170	TPM3	ORPHA:2020
HP:0001627	Abnormal heart morphology	51776	MAP3K20	ORPHA:2020
HP:0001627	Abnormal heart morphology	4763	NF1	ORPHA:363700
HP:0001627	Abnormal heart morphology	4763	NF1	ORPHA:97685
HP:0001627	Abnormal heart morphology	2178	FANCE	OMIM:600901
HP:0001627	Abnormal heart morphology	26053	AUTS2	ORPHA:352490
HP:0001627	Abnormal heart morphology	79796	ALG9	OMIM:263210
HP:0001627	Abnormal heart morphology	79796	ALG9	ORPHA:79328
HP:0001627	Abnormal heart morphology	1822	ATN1	OMIM:618494
HP:0001627	Abnormal heart morphology	28514	DLL1	ORPHA:93926
HP:0001627	Abnormal heart morphology	28514	DLL1	ORPHA:93924
HP:0001627	Abnormal heart morphology	28514	DLL1	ORPHA:93925
HP:0001627	Abnormal heart morphology	28514	DLL1	ORPHA:220386
HP:0001627	Abnormal heart morphology	2253	FGF8	ORPHA:93926
HP:0001627	Abnormal heart morphology	2253	FGF8	ORPHA:93924
HP:0001627	Abnormal heart morphology	2253	FGF8	ORPHA:93925
HP:0001627	Abnormal heart morphology	2253	FGF8	ORPHA:220386
HP:0001627	Abnormal heart morphology	6496	SIX3	ORPHA:93926
HP:0001627	Abnormal heart morphology	6496	SIX3	ORPHA:93924
HP:0001627	Abnormal heart morphology	6496	SIX3	ORPHA:93925
HP:0001627	Abnormal heart morphology	6496	SIX3	ORPHA:220386
HP:0001627	Abnormal heart morphology	7050	TGIF1	ORPHA:93926
HP:0001627	Abnormal heart morphology	7050	TGIF1	ORPHA:93924
HP:0001627	Abnormal heart morphology	7050	TGIF1	ORPHA:93925
HP:0001627	Abnormal heart morphology	7050	TGIF1	ORPHA:220386
HP:0001627	Abnormal heart morphology	4838	NODAL	ORPHA:93926
HP:0001627	Abnormal heart morphology	4838	NODAL	ORPHA:93924
HP:0001627	Abnormal heart morphology	4838	NODAL	ORPHA:93925
HP:0001627	Abnormal heart morphology	4838	NODAL	ORPHA:220386
HP:0001627	Abnormal heart morphology	6469	SHH	ORPHA:93926
HP:0001627	Abnormal heart morphology	6469	SHH	ORPHA:93924
HP:0001627	Abnormal heart morphology	6469	SHH	ORPHA:93925
HP:0001627	Abnormal heart morphology	6469	SHH	ORPHA:220386
HP:0001627	Abnormal heart morphology	7546	ZIC2	ORPHA:93926
HP:0001627	Abnormal heart morphology	7546	ZIC2	ORPHA:93924
HP:0001627	Abnormal heart morphology	7546	ZIC2	ORPHA:93925
HP:0001627	Abnormal heart morphology	7546	ZIC2	ORPHA:220386
HP:0001627	Abnormal heart morphology	6491	STIL	ORPHA:93926
HP:0001627	Abnormal heart morphology	6491	STIL	ORPHA:93924
HP:0001627	Abnormal heart morphology	6491	STIL	ORPHA:93925
HP:0001627	Abnormal heart morphology	6491	STIL	ORPHA:220386
HP:0001627	Abnormal heart morphology	2619	GAS1	ORPHA:93926
HP:0001627	Abnormal heart morphology	2619	GAS1	ORPHA:93924
HP:0001627	Abnormal heart morphology	2619	GAS1	ORPHA:93925
HP:0001627	Abnormal heart morphology	2619	GAS1	ORPHA:220386
HP:0001627	Abnormal heart morphology	84976	DISP1	ORPHA:93926
HP:0001627	Abnormal heart morphology	84976	DISP1	ORPHA:93924
HP:0001627	Abnormal heart morphology	84976	DISP1	ORPHA:93925
HP:0001627	Abnormal heart morphology	84976	DISP1	ORPHA:220386
HP:0001627	Abnormal heart morphology	2736	GLI2	ORPHA:93926
HP:0001627	Abnormal heart morphology	2736	GLI2	ORPHA:93924
HP:0001627	Abnormal heart morphology	2736	GLI2	ORPHA:93925
HP:0001627	Abnormal heart morphology	2736	GLI2	ORPHA:220386
HP:0001627	Abnormal heart morphology	8928	FOXH1	ORPHA:93926
HP:0001627	Abnormal heart morphology	8928	FOXH1	ORPHA:93924
HP:0001627	Abnormal heart morphology	8928	FOXH1	ORPHA:93925
HP:0001627	Abnormal heart morphology	8928	FOXH1	ORPHA:220386
HP:0001627	Abnormal heart morphology	6997	CRIPTO	ORPHA:93926
HP:0001627	Abnormal heart morphology	6997	CRIPTO	ORPHA:93924
HP:0001627	Abnormal heart morphology	6997	CRIPTO	ORPHA:93925
HP:0001627	Abnormal heart morphology	6997	CRIPTO	ORPHA:220386
HP:0001627	Abnormal heart morphology	5727	PTCH1	ORPHA:93926
HP:0001627	Abnormal heart morphology	5727	PTCH1	ORPHA:93924
HP:0001627	Abnormal heart morphology	5727	PTCH1	ORPHA:93925
HP:0001627	Abnormal heart morphology	5727	PTCH1	ORPHA:220386
HP:0001627	Abnormal heart morphology	50937	CDON	ORPHA:93926
HP:0001627	Abnormal heart morphology	50937	CDON	ORPHA:93924
HP:0001627	Abnormal heart morphology	50937	CDON	ORPHA:93925
HP:0001627	Abnormal heart morphology	50937	CDON	ORPHA:220386
HP:0001627	Abnormal heart morphology	2260	FGFR1	ORPHA:93924
HP:0001627	Abnormal heart morphology	2260	FGFR1	ORPHA:220386
HP:0001627	Abnormal heart morphology	23007	PLCH1	ORPHA:93925
HP:0001627	Abnormal heart morphology	10735	STAG2	ORPHA:93925
HP:0001627	Abnormal heart morphology	10735	STAG2	ORPHA:220386
HP:0001627	Abnormal heart morphology	5728	PTEN	ORPHA:79076
HP:0001627	Abnormal heart morphology	657	BMPR1A	ORPHA:79076
HP:0001627	Abnormal heart morphology	6638	SNRPN	ORPHA:177907
HP:0001627	Abnormal heart morphology	26040	SETBP1	ORPHA:798
HP:0001627	Abnormal heart morphology	3981	LIG4	ORPHA:235
HP:0001627	Abnormal heart morphology	54888	NSUN2	ORPHA:235
HP:0001627	Abnormal heart morphology	9056	SLC7A7	ORPHA:470
HP:0001627	Abnormal heart morphology	92482	BBIP1	ORPHA:110
HP:0001627	Abnormal heart morphology	80184	CEP290	ORPHA:110
HP:0001627	Abnormal heart morphology	11020	IFT27	ORPHA:110
HP:0001627	Abnormal heart morphology	582	BBS1	ORPHA:110
HP:0001627	Abnormal heart morphology	49855	SCAPER	ORPHA:110
HP:0001627	Abnormal heart morphology	4867	NPHP1	ORPHA:110
HP:0001627	Abnormal heart morphology	51057	WDPCP	ORPHA:110
HP:0001627	Abnormal heart morphology	132320	SCLT1	ORPHA:110
HP:0001627	Abnormal heart morphology	27241	BBS9	ORPHA:110
HP:0001627	Abnormal heart morphology	84984	CEP19	ORPHA:110
HP:0001627	Abnormal heart morphology	22954	TRIM32	ORPHA:110
HP:0001627	Abnormal heart morphology	54903	MKS1	ORPHA:110
HP:0001627	Abnormal heart morphology	79738	BBS10	ORPHA:110
HP:0001627	Abnormal heart morphology	123016	TTC8	ORPHA:110
HP:0001627	Abnormal heart morphology	26160	IFT172	ORPHA:110
HP:0001627	Abnormal heart morphology	583	BBS2	ORPHA:110
HP:0001627	Abnormal heart morphology	585	BBS4	ORPHA:110
HP:0001627	Abnormal heart morphology	8195	MKKS	ORPHA:110
HP:0001627	Abnormal heart morphology	54585	LZTFL1	ORPHA:110
HP:0001627	Abnormal heart morphology	55212	BBS7	ORPHA:110
HP:0001627	Abnormal heart morphology	166379	BBS12	ORPHA:110
HP:0001627	Abnormal heart morphology	10806	SDCCAG8	ORPHA:110
HP:0001627	Abnormal heart morphology	157657	CFAP418	ORPHA:110
HP:0001627	Abnormal heart morphology	84100	ARL6	ORPHA:110
HP:0001627	Abnormal heart morphology	129880	BBS5	ORPHA:110
HP:0001627	Abnormal heart morphology	80173	IFT74	ORPHA:110
HP:0001627	Abnormal heart morphology	4613	MYCN	ORPHA:391641
HP:0001627	Abnormal heart morphology	51604	PIGT	ORPHA:369837
HP:0001627	Abnormal heart morphology	2737	GLI3	OMIM:175700
HP:0001627	Abnormal heart morphology	29957	SLC25A24	OMIM:612289
HP:0001627	Abnormal heart morphology	998	CDC42	ORPHA:487796
HP:0001627	Abnormal heart morphology	10128	LRPPRC	ORPHA:70472
HP:0001627	Abnormal heart morphology	56052	ALG1	ORPHA:79327
HP:0001627	Abnormal heart morphology	2887	GRB10	ORPHA:96182
HP:0001627	Abnormal heart morphology	4247	MGAT2	ORPHA:79329
HP:0001627	Abnormal heart morphology	79228	THOC6	ORPHA:363444
HP:0001627	Abnormal heart morphology	1457	CSNK2A1	OMIM:617062
HP:0001627	Abnormal heart morphology	79813	EHMT1	ORPHA:261652
HP:0001627	Abnormal heart morphology	58508	KMT2C	ORPHA:261652
HP:0001627	Abnormal heart morphology	27086	FOXP1	ORPHA:391372
HP:0001627	Abnormal heart morphology	25802	LMOD1	OMIM:619362
HP:0001627	Abnormal heart morphology	8481	OFD1	OMIM:311200
HP:0001627	Abnormal heart morphology	8481	OFD1	ORPHA:2754
HP:0001627	Abnormal heart morphology	8481	OFD1	ORPHA:244
HP:0001627	Abnormal heart morphology	2050	EPHB4	ORPHA:137667
HP:0001627	Abnormal heart morphology	5921	RASA1	ORPHA:137667
HP:0001627	Abnormal heart morphology	3708	ITPR1	OMIM:117360
HP:0001627	Abnormal heart morphology	79633	FAT4	ORPHA:314679
HP:0001627	Abnormal heart morphology	8642	DCHS1	ORPHA:314679
HP:0001627	Abnormal heart morphology	9968	MED12	OMIM:305450
HP:0001627	Abnormal heart morphology	91949	COG7	ORPHA:79333
HP:0001627	Abnormal heart morphology	4920	ROR2	OMIM:268310
HP:0001627	Abnormal heart morphology	51322	WAC	ORPHA:284169
HP:0001627	Abnormal heart morphology	2177	FANCD2	OMIM:227646
HP:0001627	Abnormal heart morphology	5889	RAD51C	OMIM:613390
HP:0001627	Abnormal heart morphology	5528	PPP2R5D	ORPHA:457279
HP:0001627	Abnormal heart morphology	6651	SON	ORPHA:500150
HP:0001627	Abnormal heart morphology	6949	TCOF1	OMIM:154500
HP:0001627	Abnormal heart morphology	2625	GATA3	ORPHA:2237
HP:0001627	Abnormal heart morphology	8243	SMC1A	ORPHA:220386
HP:0001627	Abnormal heart morphology	5879	RAC1	ORPHA:500159
HP:0001627	Abnormal heart morphology	25974	MMACHC	ORPHA:79282
HP:0001627	Abnormal heart morphology	55681	SCYL2	ORPHA:1143
HP:0001627	Abnormal heart morphology	84570	COL25A1	ORPHA:1143
HP:0001627	Abnormal heart morphology	57222	ERGIC1	ORPHA:1143
HP:0001627	Abnormal heart morphology	55788	LMBRD1	ORPHA:79284
HP:0001627	Abnormal heart morphology	2316	FLNA	ORPHA:1826
HP:0001627	Abnormal heart morphology	6885	MAP3K7	ORPHA:1826
HP:0001627	Abnormal heart morphology	79583	TMEM231	ORPHA:2754
HP:0001627	Abnormal heart morphology	10210	TOPORS	ORPHA:2754
HP:0001627	Abnormal heart morphology	9851	KIAA0753	ORPHA:2754
HP:0001627	Abnormal heart morphology	26123	TCTN3	ORPHA:2754
HP:0001627	Abnormal heart morphology	5147	PDE6D	ORPHA:2754
HP:0001627	Abnormal heart morphology	65250	CPLANE1	ORPHA:2754
HP:0001627	Abnormal heart morphology	51259	TMEM216	ORPHA:2754
HP:0001627	Abnormal heart morphology	317662	FAM149B1	ORPHA:2754
HP:0001627	Abnormal heart morphology	374654	KIF7	ORPHA:2754
HP:0001627	Abnormal heart morphology	9203	ZMYM3	OMIM:301111
HP:0001627	Abnormal heart morphology	25981	DNAH1	ORPHA:244
HP:0001627	Abnormal heart morphology	115948	ODAD3	ORPHA:244
HP:0001627	Abnormal heart morphology	54768	HYDIN	ORPHA:244
HP:0001627	Abnormal heart morphology	352909	DNAAF3	ORPHA:244
HP:0001627	Abnormal heart morphology	27148	STK36	ORPHA:244
HP:0001627	Abnormal heart morphology	51314	NME8	ORPHA:244
HP:0001627	Abnormal heart morphology	92749	DRC1	ORPHA:244
HP:0001627	Abnormal heart morphology	54970	TTC12	ORPHA:244
HP:0001627	Abnormal heart morphology	152110	NEK10	ORPHA:244
HP:0001627	Abnormal heart morphology	2302	FOXJ1	ORPHA:244
HP:0001627	Abnormal heart morphology	221421	RSPH9	ORPHA:244
HP:0001627	Abnormal heart morphology	85478	CCDC65	ORPHA:244
HP:0001627	Abnormal heart morphology	55036	CCDC40	ORPHA:244
HP:0001627	Abnormal heart morphology	51364	ZMYND10	ORPHA:244
HP:0001627	Abnormal heart morphology	64446	DNAI2	ORPHA:244
HP:0001627	Abnormal heart morphology	8382	NME5	ORPHA:244
HP:0001627	Abnormal heart morphology	6674	SPAG1	ORPHA:244
HP:0001627	Abnormal heart morphology	83544	DNAL1	ORPHA:244
HP:0001627	Abnormal heart morphology	89765	RSPH1	ORPHA:244
HP:0001627	Abnormal heart morphology	83538	ODAD4	ORPHA:244
HP:0001627	Abnormal heart morphology	200373	CFAP221	ORPHA:244
HP:0001627	Abnormal heart morphology	374407	DNAJB13	ORPHA:244
HP:0001627	Abnormal heart morphology	55172	DNAAF2	ORPHA:244
HP:0001627	Abnormal heart morphology	161582	DNAAF4	ORPHA:244
HP:0001627	Abnormal heart morphology	2622	GAS8	ORPHA:244
HP:0001627	Abnormal heart morphology	23639	DNAAF11	ORPHA:244
HP:0001627	Abnormal heart morphology	27019	DNAI1	ORPHA:244
HP:0001627	Abnormal heart morphology	345895	RSPH4A	ORPHA:244
HP:0001627	Abnormal heart morphology	54919	DNAAF5	ORPHA:244
HP:0001627	Abnormal heart morphology	6103	RPGR	ORPHA:244
HP:0001627	Abnormal heart morphology	85452	CFAP74	ORPHA:244
HP:0001627	Abnormal heart morphology	93233	ODAD1	ORPHA:244
HP:0001627	Abnormal heart morphology	55130	ODAD2	ORPHA:244
HP:0001627	Abnormal heart morphology	1767	DNAH5	ORPHA:244
HP:0001627	Abnormal heart morphology	83861	RSPH3	ORPHA:244
HP:0001627	Abnormal heart morphology	345643	MCIDAS	ORPHA:244
HP:0001627	Abnormal heart morphology	56683	CFAP298	ORPHA:244
HP:0001627	Abnormal heart morphology	79925	SPEF2	ORPHA:244
HP:0001627	Abnormal heart morphology	10309	CCNO	ORPHA:244
HP:0001627	Abnormal heart morphology	115399	LRRC56	ORPHA:244
HP:0001627	Abnormal heart morphology	139212	DNAAF6	ORPHA:244
HP:0001627	Abnormal heart morphology	123872	DNAAF1	ORPHA:244
HP:0001627	Abnormal heart morphology	85016	CFAP300	ORPHA:244
HP:0001627	Abnormal heart morphology	339829	CCDC39	ORPHA:244
HP:0001627	Abnormal heart morphology	8701	DNAH11	ORPHA:244
HP:0001627	Abnormal heart morphology	1770	DNAH9	ORPHA:244
HP:0001627	Abnormal heart morphology	246176	GAS2L2	ORPHA:244
HP:0001627	Abnormal heart morphology	6138	RPL15	ORPHA:124
HP:0001627	Abnormal heart morphology	6224	RPS20	ORPHA:124
HP:0001627	Abnormal heart morphology	6165	RPL35A	ORPHA:124
HP:0001627	Abnormal heart morphology	6132	RPL8	ORPHA:124
HP:0001627	Abnormal heart morphology	6223	RPS19	ORPHA:124
HP:0001627	Abnormal heart morphology	6232	RPS27	ORPHA:124
HP:0001627	Abnormal heart morphology	55027	HEATR3	ORPHA:124
HP:0001627	Abnormal heart morphology	6160	RPL31	ORPHA:124
HP:0001627	Abnormal heart morphology	6201	RPS7	ORPHA:124
HP:0001627	Abnormal heart morphology	6155	RPL27	ORPHA:124
HP:0001627	Abnormal heart morphology	6234	RPS28	ORPHA:124
HP:0001627	Abnormal heart morphology	6135	RPL11	ORPHA:124
HP:0001627	Abnormal heart morphology	6229	RPS24	ORPHA:124
HP:0001627	Abnormal heart morphology	6125	RPL5	ORPHA:124
HP:0001627	Abnormal heart morphology	6204	RPS10	ORPHA:124
HP:0001627	Abnormal heart morphology	2623	GATA1	ORPHA:124
HP:0001627	Abnormal heart morphology	6133	RPL9	ORPHA:124
HP:0001627	Abnormal heart morphology	6231	RPS26	ORPHA:124
HP:0001627	Abnormal heart morphology	11224	RPL35	ORPHA:124
HP:0001627	Abnormal heart morphology	6218	RPS17	ORPHA:124
HP:0001627	Abnormal heart morphology	6154	RPL26	ORPHA:124
HP:0001627	Abnormal heart morphology	6210	RPS15A	ORPHA:124
HP:0001627	Abnormal heart morphology	90121	TSR2	ORPHA:124
HP:0001627	Abnormal heart morphology	6141	RPL18	ORPHA:124
HP:0001627	Abnormal heart morphology	6235	RPS29	ORPHA:124
HP:0001627	Abnormal heart morphology	51816	ADA2	ORPHA:124
HP:0001627	Abnormal heart morphology	25970	SH2B1	ORPHA:261197
HP:0001627	Abnormal heart morphology	5087	PBX1	OMIM:617641
HP:0001627	Abnormal heart morphology	26173	INTS1	OMIM:618571
HP:0001627	Abnormal heart morphology	4281	MID1	ORPHA:2745
HP:0001627	Abnormal heart morphology	9652	SKIC3	ORPHA:84064
HP:0001627	Abnormal heart morphology	6499	SKIC2	ORPHA:84064
HP:0001627	Abnormal heart morphology	5813	PURA	ORPHA:314655
HP:0001627	Abnormal heart morphology	28981	IFT81	OMIM:617895
HP:0001627	Abnormal heart morphology	51126	NAA20	OMIM:619717
HP:0001627	Abnormal heart morphology	2972	BRF1	OMIM:616202
HP:0001627	Abnormal heart morphology	2972	BRF1	ORPHA:444072
HP:0001627	Abnormal heart morphology	91801	ALKBH8	OMIM:618504
HP:0001627	Abnormal heart morphology	79639	TMEM53	OMIM:619727
HP:0001627	Abnormal heart morphology	7021	TFAP2B	ORPHA:46627
HP:0001627	Abnormal heart morphology	815	CAMK2A	OMIM:617798
HP:0001627	Abnormal heart morphology	6926	TBX3	OMIM:181450
HP:0001627	Abnormal heart morphology	6926	TBX3	ORPHA:3138
HP:0001627	Abnormal heart morphology	93627	TBCK	ORPHA:488632
HP:0001627	Abnormal heart morphology	26834	RNU4-2	OMIM:620851
HP:0001627	Abnormal heart morphology	81794	ADAMTS10	OMIM:277600
HP:0001627	Abnormal heart morphology	81794	ADAMTS10	ORPHA:3449
HP:0001627	Abnormal heart morphology	3476	IGBP1	ORPHA:52055
HP:0001627	Abnormal heart morphology	3476	IGBP1	OMIM:300472
HP:0001627	Abnormal heart morphology	8493	PPM1D	OMIM:617450
HP:0001627	Abnormal heart morphology	56006	SMG9	OMIM:619995
HP:0001627	Abnormal heart morphology	56006	SMG9	OMIM:616920
HP:0001627	Abnormal heart morphology	150468	CKAP2L	OMIM:272440
HP:0001627	Abnormal heart morphology	150468	CKAP2L	ORPHA:3255
HP:0001627	Abnormal heart morphology	8314	BAP1	OMIM:619762
HP:0001627	Abnormal heart morphology	2542	SLC37A4	OMIM:619525
HP:0001627	Abnormal heart morphology	57466	SCAF4	OMIM:620511
HP:0001627	Abnormal heart morphology	54487	DGCR8	OMIM:192430
HP:0001627	Abnormal heart morphology	8214	DGCR6	OMIM:192430
HP:0001627	Abnormal heart morphology	8220	ESS2	OMIM:192430
HP:0001627	Abnormal heart morphology	9993	DGCR2	OMIM:192430
HP:0001627	Abnormal heart morphology	8565	YARS1	OMIM:619418
HP:0001627	Abnormal heart morphology	23499	MACF1	OMIM:618325
HP:0001627	Abnormal heart morphology	3930	LBR	OMIM:169400
HP:0001627	Abnormal heart morphology	54361	WNT4	OMIM:611812
HP:0001627	Abnormal heart morphology	54361	WNT4	ORPHA:139466
HP:0001627	Abnormal heart morphology	286204	CRB2	OMIM:219730
HP:0001627	Abnormal heart morphology	8295	TRRAP	OMIM:618454
HP:0001627	Abnormal heart morphology	55770	EXOC2	OMIM:619306
HP:0001627	Abnormal heart morphology	27145	FILIP1	OMIM:620775
HP:0001627	Abnormal heart morphology	6792	CDKL5	ORPHA:1934
HP:0001627	Abnormal heart morphology	3736	KCNA1	ORPHA:1934
HP:0001627	Abnormal heart morphology	9091	PIGQ	ORPHA:1934
HP:0001627	Abnormal heart morphology	140679	SLC32A1	ORPHA:1934
HP:0001627	Abnormal heart morphology	2775	GNAO1	ORPHA:1934
HP:0001627	Abnormal heart morphology	81603	TRIM8	ORPHA:1934
HP:0001627	Abnormal heart morphology	2902	GRIN1	ORPHA:1934
HP:0001627	Abnormal heart morphology	79751	SLC25A22	ORPHA:1934
HP:0001627	Abnormal heart morphology	150094	SIK1	ORPHA:1934
HP:0001627	Abnormal heart morphology	8573	CASK	ORPHA:1934
HP:0001627	Abnormal heart morphology	23312	DMXL2	ORPHA:1934
HP:0001627	Abnormal heart morphology	2917	GRM7	ORPHA:1934
HP:0001627	Abnormal heart morphology	170302	ARX	ORPHA:1934
HP:0001627	Abnormal heart morphology	170302	ARX	ORPHA:452
HP:0001627	Abnormal heart morphology	11284	PNKP	ORPHA:1934
HP:0001627	Abnormal heart morphology	6326	SCN2A	ORPHA:1934
HP:0001627	Abnormal heart morphology	51227	PIGP	ORPHA:1934
HP:0001627	Abnormal heart morphology	6324	SCN1B	ORPHA:1934
HP:0001627	Abnormal heart morphology	4761	NEUROD2	ORPHA:1934
HP:0001627	Abnormal heart morphology	23314	SATB2	ORPHA:251028
HP:0001627	Abnormal heart morphology	23395	LARS2	OMIM:617021
HP:0001627	Abnormal heart morphology	57551	TAOK1	OMIM:619575
HP:0001627	Abnormal heart morphology	372	ARCN1	OMIM:617164
HP:0001627	Abnormal heart morphology	6304	SATB1	OMIM:619229
HP:0001627	Abnormal heart morphology	6811	STX5	OMIM:620454
HP:0001627	Abnormal heart morphology	4990	SIX6	OMIM:206900
HP:0001627	Abnormal heart morphology	6657	SOX2	OMIM:206900
HP:0001627	Abnormal heart morphology	6657	SOX2	ORPHA:77298
HP:0001627	Abnormal heart morphology	8883	NAE1	OMIM:620210
HP:0001627	Abnormal heart morphology	64864	RFX7	OMIM:620330
HP:0001627	Abnormal heart morphology	57003	CCDC47	OMIM:618268
HP:0001627	Abnormal heart morphology	6711	SPTBN1	OMIM:619475
HP:0001627	Abnormal heart morphology	10283	CWC27	OMIM:250410
HP:0001627	Abnormal heart morphology	10283	CWC27	ORPHA:166035
HP:0001627	Abnormal heart morphology	118924	FRA10AC1	OMIM:620113
HP:0001627	Abnormal heart morphology	4222	MEOX1	OMIM:214300
HP:0001627	Abnormal heart morphology	4222	MEOX1	ORPHA:2345
HP:0001627	Abnormal heart morphology	407975	MIR17HG	ORPHA:391646
HP:0001627	Abnormal heart morphology	4256	MGP	OMIM:245150
HP:0001627	Abnormal heart morphology	4256	MGP	ORPHA:85202
HP:0001627	Abnormal heart morphology	5297	PI4KA	ORPHA:436252
HP:0001627	Abnormal heart morphology	57217	TTC7A	ORPHA:436252
HP:0001627	Abnormal heart morphology	57217	TTC7A	OMIM:243150
HP:0001627	Abnormal heart morphology	10262	SF3B4	OMIM:154400
HP:0001627	Abnormal heart morphology	26128	KIFBP	OMIM:609460
HP:0001627	Abnormal heart morphology	83700	JAM3	OMIM:613730
HP:0001627	Abnormal heart morphology	123263	MTFMT	OMIM:614947
HP:0001627	Abnormal heart morphology	8854	ALDH1A2	OMIM:620025
HP:0001627	Abnormal heart morphology	10992	SF3B2	OMIM:164210
HP:0001627	Abnormal heart morphology	80232	WDR26	ORPHA:513456
HP:0001627	Abnormal heart morphology	80232	WDR26	OMIM:617616
HP:0001627	Abnormal heart morphology	55249	YY1AP1	ORPHA:79094
HP:0001627	Abnormal heart morphology	10225	CD96	OMIM:211750
HP:0001627	Abnormal heart morphology	7175	TPR	OMIM:620393
HP:0001627	Abnormal heart morphology	5119	CHMP1A	OMIM:614961
HP:0001627	Abnormal heart morphology	8772	FADD	OMIM:613759
HP:0001627	Abnormal heart morphology	8772	FADD	ORPHA:306550
HP:0001627	Abnormal heart morphology	63894	VIPAS39	OMIM:613404
HP:0001627	Abnormal heart morphology	4036	LRP2	ORPHA:2143
HP:0001627	Abnormal heart morphology	4036	LRP2	OMIM:222448
HP:0001627	Abnormal heart morphology	26227	PHGDH	OMIM:256520
HP:0001627	Abnormal heart morphology	23118	TAB2	OMIM:614980
HP:0001627	Abnormal heart morphology	6558	SLC12A2	OMIM:619083
HP:0001627	Abnormal heart morphology	10236	HNRNPR	OMIM:620073
HP:0001627	Abnormal heart morphology	51244	CCDC174	OMIM:616816
HP:0001627	Abnormal heart morphology	170691	ADAMTS17	ORPHA:3449
HP:0001627	Abnormal heart morphology	4053	LTBP2	ORPHA:3449
HP:0001627	Abnormal heart morphology	2303	FOXC2	OMIM:153400
HP:0001627	Abnormal heart morphology	667	DST	OMIM:614653
HP:0001627	Abnormal heart morphology	9573	GDF3	ORPHA:2345
HP:0001627	Abnormal heart morphology	392255	GDF6	ORPHA:2345
HP:0001627	Abnormal heart morphology	55112	DYNC2I1	OMIM:615503
HP:0001627	Abnormal heart morphology	85358	SHANK3	OMIM:606232
HP:0001627	Abnormal heart morphology	4854	NOTCH3	OMIM:130720
HP:0001627	Abnormal heart morphology	4854	NOTCH3	ORPHA:2789
HP:0001627	Abnormal heart morphology	83479	DDX59	OMIM:174300
HP:0001627	Abnormal heart morphology	5915	RARB	OMIM:615524
HP:0001627	Abnormal heart morphology	5160	PDHA1	ORPHA:79243
HP:0001627	Abnormal heart morphology	3209	HOXA13	ORPHA:2438
HP:0001627	Abnormal heart morphology	7074	TIAM1	OMIM:619908
HP:0001627	Abnormal heart morphology	59336	PRDM13	OMIM:619909
HP:0001627	Abnormal heart morphology	157680	VPS13B	ORPHA:193
HP:0001627	Abnormal heart morphology	10274	STAG1	OMIM:617635
HP:0001627	Abnormal heart morphology	51780	KDM3B	OMIM:618846
HP:0001627	Abnormal heart morphology	1663	DDX11	OMIM:613398
HP:0001627	Abnormal heart morphology	8792	TNFRSF11A	ORPHA:1782
HP:0001627	Abnormal heart morphology	124583	CANT1	ORPHA:1425
HP:0001627	Abnormal heart morphology	8036	SHOC2	OMIM:607721
HP:0001627	Abnormal heart morphology	10617	STAMBP	OMIM:614261
HP:0001627	Abnormal heart morphology	26235	FBXL4	OMIM:615471
HP:0001627	Abnormal heart morphology	23334	SZT2	OMIM:615476
HP:0001627	Abnormal heart morphology	9231	DLG5	OMIM:620703
HP:0001627	Abnormal heart morphology	81857	MED25	OMIM:616449
HP:0001627	Abnormal heart morphology	81857	MED25	ORPHA:464738
HP:0001627	Abnormal heart morphology	5927	KDM5A	OMIM:620820
HP:0001627	Abnormal heart morphology	1788	DNMT3A	ORPHA:404443
HP:0001627	Abnormal heart morphology	1788	DNMT3A	OMIM:615879
HP:0001627	Abnormal heart morphology	1131	CHRM3	ORPHA:2970
HP:0001627	Abnormal heart morphology	3020	H3-3A	OMIM:619720
HP:0001627	Abnormal heart morphology	55790	CSGALNACT1	OMIM:618870
HP:0001627	Abnormal heart morphology	2201	FBN2	OMIM:121050
HP:0001627	Abnormal heart morphology	4149	MAX	OMIM:620712
HP:0001627	Abnormal heart morphology	10084	PQBP1	ORPHA:93946
HP:0001627	Abnormal heart morphology	10084	PQBP1	ORPHA:93947
HP:0001627	Abnormal heart morphology	10084	PQBP1	OMIM:309500
HP:0001627	Abnormal heart morphology	2132	EXT2	ORPHA:466926
HP:0001627	Abnormal heart morphology	28960	DCPS	OMIM:616459
HP:0001627	Abnormal heart morphology	23384	SPECC1L	ORPHA:1519
HP:0001627	Abnormal heart morphology	23384	SPECC1L	OMIM:145420
HP:0001627	Abnormal heart morphology	57231	SNX14	ORPHA:397709
HP:0001627	Abnormal heart morphology	7994	KAT6A	ORPHA:457193
HP:0001627	Abnormal heart morphology	7994	KAT6A	OMIM:616268
HP:0001627	Abnormal heart morphology	55109	AGGF1	ORPHA:90308
HP:0001627	Abnormal heart morphology	4313	MMP2	ORPHA:371428
HP:0001627	Abnormal heart morphology	4323	MMP14	ORPHA:371428
HP:0001627	Abnormal heart morphology	7092	TLL1	OMIM:613087
HP:0001627	Abnormal heart morphology	8550	MAPKAPK5	OMIM:619869
HP:0001627	Abnormal heart morphology	2296	FOXC1	OMIM:602482
HP:0001627	Abnormal heart morphology	8241	RBM10	OMIM:311900
HP:0001627	Abnormal heart morphology	8241	RBM10	ORPHA:2886
HP:0001627	Abnormal heart morphology	5337	PLD1	OMIM:212093
HP:0001627	Abnormal heart morphology	1182	CLCN3	OMIM:619512
HP:0001627	Abnormal heart morphology	8558	CDK10	OMIM:617694
HP:0001627	Abnormal heart morphology	51633	OTUD6B	OMIM:617452
HP:0001627	Abnormal heart morphology	51633	OTUD6B	ORPHA:505237
HP:0001627	Abnormal heart morphology	286	ANK1	ORPHA:251066
HP:0001627	Abnormal heart morphology	415	ARSL	ORPHA:79345
HP:0001627	Abnormal heart morphology	93986	FOXP2	ORPHA:251061
HP:0001627	Abnormal heart morphology	7385	UQCRC2	OMIM:615160
HP:0001627	Abnormal heart morphology	7750	ZMYM2	OMIM:619522
HP:0001627	Abnormal heart morphology	10991	SLC38A3	OMIM:619881
HP:0001627	Abnormal heart morphology	9772	TMEM94	OMIM:618316
HP:0001627	Abnormal heart morphology	51341	ZBTB7A	OMIM:619769
HP:0001627	Abnormal heart morphology	51163	DBR1	OMIM:620510
HP:0001627	Abnormal heart morphology	54916	TMEM260	OMIM:617478
HP:0001627	Abnormal heart morphology	1107	CHD3	OMIM:618205
HP:0001627	Abnormal heart morphology	8621	CDK13	OMIM:617360
HP:0001627	Abnormal heart morphology	1523	CUX1	OMIM:618330
HP:0001627	Abnormal heart morphology	4212	MEIS2	ORPHA:261190
HP:0001627	Abnormal heart morphology	4212	MEIS2	OMIM:600987
HP:0001627	Abnormal heart morphology	1801	DPH1	ORPHA:459061
HP:0001627	Abnormal heart morphology	1802	DPH2	ORPHA:459061
HP:0001627	Abnormal heart morphology	64132	XYLT2	OMIM:605822
HP:0001627	Abnormal heart morphology	6909	TBX2	OMIM:618223
HP:0001627	Abnormal heart morphology	6477	SIAH1	OMIM:619314
HP:0001627	Abnormal heart morphology	10765	KDM5B	OMIM:618109
HP:0001627	Abnormal heart morphology	92335	STRADA	ORPHA:500533
HP:0001627	Abnormal heart morphology	92335	STRADA	OMIM:611087
HP:0001627	Abnormal heart morphology	253738	EBF3	ORPHA:96148
HP:0001627	Abnormal heart morphology	90459	ERI1	OMIM:620663
HP:0001627	Abnormal heart morphology	90459	ERI1	OMIM:620662
HP:0001627	Abnormal heart morphology	6888	TALDO1	ORPHA:101028
HP:0001627	Abnormal heart morphology	6888	TALDO1	OMIM:606003
HP:0001627	Abnormal heart morphology	5515	PPP2CA	OMIM:618354
HP:0001627	Abnormal heart morphology	5649	RELN	ORPHA:89844
HP:0001627	Abnormal heart morphology	10300	KATNB1	ORPHA:89844
HP:0001627	Abnormal heart morphology	1363	CPE	OMIM:619326
HP:0001627	Abnormal heart morphology	8312	AXIN1	OMIM:620558
HP:0001627	Abnormal heart morphology	51114	ZDHHC9	ORPHA:776
HP:0001627	Abnormal heart morphology	65109	UPF3B	ORPHA:776
HP:0001627	Abnormal heart morphology	5077	PAX3	ORPHA:896
HP:0001627	Abnormal heart morphology	9126	SMC3	OMIM:610759
HP:0001627	Abnormal heart morphology	9126	SMC3	ORPHA:199
HP:0001627	Abnormal heart morphology	4784	NFIX	OMIM:602535
HP:0001627	Abnormal heart morphology	2530	FUT8	OMIM:618005
HP:0001627	Abnormal heart morphology	166378	AFG2A	ORPHA:457351
HP:0001627	Abnormal heart morphology	10082	GPC6	OMIM:258315
HP:0001627	Abnormal heart morphology	1108	CHD4	OMIM:617159
HP:0001627	Abnormal heart morphology	54551	MAGEL2	ORPHA:398069
HP:0001627	Abnormal heart morphology	201163	FLCN	OMIM:610883
HP:0001627	Abnormal heart morphology	400569	MED11	OMIM:620327
HP:0001627	Abnormal heart morphology	7703	PCGF2	OMIM:618371
HP:0001627	Abnormal heart morphology	27031	NPHP3	OMIM:267010
HP:0001627	Abnormal heart morphology	27031	NPHP3	OMIM:208540
HP:0001627	Abnormal heart morphology	26276	VPS33B	OMIM:208085
HP:0001627	Abnormal heart morphology	5277	PIGA	OMIM:300868
HP:0001627	Abnormal heart morphology	3188	HNRNPH2	OMIM:300986
HP:0001627	Abnormal heart morphology	54538	ROBO4	OMIM:618496
HP:0001627	Abnormal heart morphology	9343	EFTUD2	OMIM:610536
HP:0001627	Abnormal heart morphology	9343	EFTUD2	ORPHA:79113
HP:0001627	Abnormal heart morphology	55186	SLC25A36	OMIM:620211
HP:0001627	Abnormal heart morphology	5281	PIGF	OMIM:619356
HP:0001627	Abnormal heart morphology	1277	COL1A1	OMIM:619115
HP:0001627	Abnormal heart morphology	10526	IPO8	OMIM:619472
HP:0001627	Abnormal heart morphology	8452	CUL3	OMIM:619239
HP:0001627	Abnormal heart morphology	51360	MBTPS2	OMIM:308205
HP:0001627	Abnormal heart morphology	7204	TRIO	OMIM:617061
HP:0001627	Abnormal heart morphology	285590	SH3PXD2B	OMIM:249420
HP:0001627	Abnormal heart morphology	374879	ZNF699	OMIM:619488
HP:0001627	Abnormal heart morphology	51715	RAB23	OMIM:201000
HP:0001627	Abnormal heart morphology	8318	CDC45	OMIM:617063
HP:0001627	Abnormal heart morphology	126792	B3GALT6	OMIM:271640
HP:0001627	Abnormal heart morphology	55252	ASXL2	OMIM:617190
HP:0001627	Abnormal heart morphology	84905	ZNF341	OMIM:618282
HP:0001627	Abnormal heart morphology	23387	SIK3	OMIM:618162
HP:0001627	Abnormal heart morphology	7716	VEZF1	OMIM:620247
HP:0001627	Abnormal heart morphology	5557	PRIM1	OMIM:620005
HP:0001627	Abnormal heart morphology	4853	NOTCH2	OMIM:610205
HP:0001627	Abnormal heart morphology	55901	THSD1	OMIM:620244
HP:0001627	Abnormal heart morphology	129285	PPP1R21	OMIM:619383
HP:0001627	Abnormal heart morphology	55181	SMG8	OMIM:619268
HP:0001627	Abnormal heart morphology	27161	AGO2	OMIM:619149
HP:0001627	Abnormal heart morphology	3480	IGF1R	OMIM:270450
HP:0001627	Abnormal heart morphology	57539	WDR35	OMIM:613610
HP:0001627	Abnormal heart morphology	8496	PPFIBP1	OMIM:620024
HP:0001627	Abnormal heart morphology	613	BCR	ORPHA:261330
HP:0001627	Abnormal heart morphology	1399	CRKL	ORPHA:261330
HP:0001627	Abnormal heart morphology	5594	MAPK1	ORPHA:261330
HP:0001627	Abnormal heart morphology	5594	MAPK1	OMIM:619087
HP:0001627	Abnormal heart morphology	89910	UBE3B	OMIM:244450
HP:0001627	Abnormal heart morphology	56992	KIF15	ORPHA:261323
HP:0001627	Abnormal heart morphology	80204	FBXO11	OMIM:618089
HP:0001627	Abnormal heart morphology	1889	ECE1	OMIM:613870
HP:0001627	Abnormal heart morphology	222663	SCUBE3	OMIM:619184
HP:0001627	Abnormal heart morphology	9184	BUB3	ORPHA:1052
HP:0001627	Abnormal heart morphology	699	BUB1	ORPHA:1052
HP:0001627	Abnormal heart morphology	9702	CEP57	ORPHA:1052
HP:0001627	Abnormal heart morphology	9702	CEP57	OMIM:614114
HP:0001627	Abnormal heart morphology	9319	TRIP13	ORPHA:1052
HP:0001627	Abnormal heart morphology	701	BUB1B	ORPHA:1052
HP:0001627	Abnormal heart morphology	701	BUB1B	OMIM:257300
HP:0001627	Abnormal heart morphology	55148	UBR7	OMIM:619189
HP:0001627	Abnormal heart morphology	26005	C2CD3	OMIM:615948
HP:0001627	Abnormal heart morphology	53834	FGFRL1	OMIM:194190
HP:0001627	Abnormal heart morphology	3265	HRAS	OMIM:218040
HP:0001627	Abnormal heart morphology	5826	ABCD4	OMIM:614857
HP:0001627	Abnormal heart morphology	10841	FTCD	ORPHA:51208
HP:0001627	Abnormal heart morphology	84720	PIGO	OMIM:614749
HP:0001627	Abnormal heart morphology	54499	TMCO1	OMIM:213980
HP:0001627	Abnormal heart morphology	55719	SLF2	OMIM:620184
HP:0001627	Abnormal heart morphology	57057	TBX20	OMIM:611363
HP:0001627	Abnormal heart morphology	182	JAG1	OMIM:118450
HP:0001627	Abnormal heart morphology	51085	MLXIPL	OMIM:194050
HP:0001627	Abnormal heart morphology	3911	LAMA5	OMIM:620076
HP:0001627	Abnormal heart morphology	10430	TMEM147	OMIM:620075
HP:0001627	Abnormal heart morphology	51574	LARP7	ORPHA:319671
HP:0001627	Abnormal heart morphology	50945	TBX22	ORPHA:921
HP:0001627	Abnormal heart morphology	84978	FRMD5	OMIM:620094
HP:0001627	Abnormal heart morphology	157570	ESCO2	OMIM:268300
HP:0001627	Abnormal heart morphology	2317	FLNB	OMIM:150250
HP:0001627	Abnormal heart morphology	2703	GJA8	OMIM:612474
HP:0001627	Abnormal heart morphology	10664	CTCF	OMIM:615502
HP:0001627	Abnormal heart morphology	10664	CTCF	ORPHA:363611
HP:0001627	Abnormal heart morphology	9780	PIEZO1	OMIM:616843
HP:0001627	Abnormal heart morphology	100151683	RNU4ATAC	OMIM:210710
HP:0001627	Abnormal heart morphology	5648	MASP1	OMIM:257920
HP:0001627	Abnormal heart morphology	57167	SALL4	OMIM:607323
HP:0001627	Abnormal heart morphology	2258	FGF13	OMIM:301058
HP:0001627	Abnormal heart morphology	57465	TBC1D24	OMIM:220500
HP:0001627	Abnormal heart morphology	113179	ADAT3	ORPHA:363528
HP:0001627	Abnormal heart morphology	3313	HSPA9	OMIM:616854
HP:0001627	Abnormal heart morphology	10370	CITED2	OMIM:614433
HP:0001627	Abnormal heart morphology	131118	DNAJC19	OMIM:610198
HP:0001627	Abnormal heart morphology	5447	POR	OMIM:207410
HP:0001627	Abnormal heart morphology	4297	KMT2A	OMIM:605130
HP:0001627	Abnormal heart morphology	10265	IRX5	OMIM:611174
HP:0001627	Abnormal heart morphology	27315	PGAP2	OMIM:614207
HP:0001627	Abnormal heart morphology	6606	SMN1	OMIM:253300
HP:0001627	Abnormal heart morphology	5422	POLA1	OMIM:301030
HP:0001627	Abnormal heart morphology	79576	NKAP	OMIM:301039
HP:0001627	Abnormal heart morphology	25	ABL1	OMIM:617602
HP:0001627	Abnormal heart morphology	57511	COG6	OMIM:614576
HP:0001627	Abnormal heart morphology	6878	TAF6	ORPHA:199
HP:0001627	Abnormal heart morphology	55869	HDAC8	ORPHA:199
HP:0001627	Abnormal heart morphology	5885	RAD21	ORPHA:199
HP:0001627	Abnormal heart morphology	6628	SNRPB	OMIM:117650
HP:0001627	Abnormal heart morphology	55617	TASP1	OMIM:618950
HP:0001627	Abnormal heart morphology	6857	SYT1	ORPHA:522077
HP:0001627	Abnormal heart morphology	10293	TRAIP	OMIM:616777
HP:0001627	Abnormal heart morphology	4780	NFE2L2	OMIM:617744
HP:0001627	Abnormal heart morphology	3832	KIF11	ORPHA:2526
HP:0001627	Abnormal heart morphology	5500	PPP1CB	OMIM:617506
HP:0001627	Abnormal heart morphology	93649	MYOCD	OMIM:618719
HP:0001627	Abnormal heart morphology	139285	AMER1	OMIM:300373
HP:0001627	Abnormal heart morphology	9786	KIAA0586	OMIM:616546
HP:0001627	Abnormal heart morphology	5116	PCNT	ORPHA:2637
HP:0001627	Abnormal heart morphology	8777	MPDZ	OMIM:615219
HP:0001627	Abnormal heart morphology	5718	PSMD12	OMIM:617516
HP:0001627	Abnormal heart morphology	9439	MED23	OMIM:614249
HP:0001627	Abnormal heart morphology	9451	EIF2AK3	ORPHA:1667
HP:0001627	Abnormal heart morphology	523	ATP6V1A	OMIM:617403
HP:0001627	Abnormal heart morphology	7372	UMPS	OMIM:258900
HP:0001627	Abnormal heart morphology	529	ATP6V1E1	OMIM:617402
HP:0001627	Abnormal heart morphology	84148	KAT8	OMIM:618974
HP:0001627	Abnormal heart morphology	2137	EXTL3	ORPHA:508533
HP:0001627	Abnormal heart morphology	84627	ZNF469	OMIM:229200
HP:0001627	Abnormal heart morphology	84627	ZNF469	ORPHA:90354
HP:0001627	Abnormal heart morphology	652	BMP4	ORPHA:828
HP:0001627	Abnormal heart morphology	170689	ADAMTS15	OMIM:620545
HP:0001627	Abnormal heart morphology	4054	LTBP3	OMIM:601216
HP:0001627	Abnormal heart morphology	51726	DNAJB11	ORPHA:730
HP:0001627	Abnormal heart morphology	23193	GANAB	ORPHA:730
HP:0001627	Abnormal heart morphology	5310	PKD1	ORPHA:730
HP:0001627	Abnormal heart morphology	5310	PKD1	OMIM:173900
HP:0001627	Abnormal heart morphology	29880	ALG5	ORPHA:730
HP:0001627	Abnormal heart morphology	9742	IFT140	ORPHA:730
HP:0001627	Abnormal heart morphology	80114	BICC1	ORPHA:730
HP:0001627	Abnormal heart morphology	2332	FMR1	ORPHA:449291
HP:0001627	Abnormal heart morphology	2332	FMR1	OMIM:300624
HP:0001627	Abnormal heart morphology	2332	FMR1	ORPHA:908
HP:0001627	Abnormal heart morphology	5351	PLOD1	ORPHA:1900
HP:0001627	Abnormal heart morphology	1289	COL5A1	ORPHA:287
HP:0001627	Abnormal heart morphology	1289	COL5A1	OMIM:130000
HP:0001627	Abnormal heart morphology	1290	COL5A2	ORPHA:287
HP:0001627	Abnormal heart morphology	56776	FMN2	OMIM:616193
HP:0001627	Abnormal heart morphology	26278	SACS	ORPHA:98
HP:0001627	Abnormal heart morphology	633	BGN	OMIM:300989
HP:0001627	Abnormal heart morphology	1280	COL2A1	ORPHA:90653
HP:0001627	Abnormal heart morphology	1280	COL2A1	OMIM:108300
HP:0001627	Abnormal heart morphology	7450	VWF	OMIM:193400
HP:0001627	Abnormal heart morphology	11107	PRDM5	ORPHA:90354
HP:0001627	Abnormal heart morphology	22873	DZIP1	OMIM:610840
HP:0001627	Abnormal heart morphology	875	CBS	OMIM:236200
HP:0001627	Abnormal heart morphology	4883	NPR3	OMIM:619543
HP:0001627	Abnormal heart morphology	2582	GALE	OMIM:620776
HP:0001627	Abnormal heart morphology	161742	SPRED1	ORPHA:137605
HP:0001627	Abnormal heart morphology	23414	ZFPM2	ORPHA:3303
HP:0001627	Abnormal heart morphology	23414	ZFPM2	OMIM:187500
HP:0001627	Abnormal heart morphology	3791	KDR	ORPHA:3303
HP:0001627	Abnormal heart morphology	8443	GNPAT	OMIM:222765
HP:0001627	Abnormal heart morphology	26275	HIBCH	ORPHA:88639
HP:0001627	Abnormal heart morphology	26275	HIBCH	OMIM:250620
HP:0001627	Abnormal heart morphology	1147	CHUK	OMIM:613630
HP:0001627	Abnormal heart morphology	7852	CXCR4	ORPHA:51636
HP:0001627	Abnormal heart morphology	8092	ALX1	ORPHA:306542
HP:0001627	Abnormal heart morphology	3579	CXCR2	OMIM:619407
HP:0001627	Abnormal heart morphology	257	ALX3	OMIM:136760
HP:0001627	Abnormal heart morphology	3106	HLA-B	ORPHA:36426
HP:0001627	Abnormal heart morphology	3106	HLA-B	ORPHA:117
HP:0001627	Abnormal heart morphology	10320	IKZF1	ORPHA:36426
HP:0001627	Abnormal heart morphology	2629	GBA1	ORPHA:77261
HP:0001627	Abnormal heart morphology	4000	LMNA	ORPHA:300751
HP:0001627	Abnormal heart morphology	81031	SLC2A10	ORPHA:3342
HP:0001627	Abnormal heart morphology	7132	TNFRSF1A	ORPHA:32960
HP:0001627	Abnormal heart morphology	2717	GLA	ORPHA:324
HP:0001627	Abnormal heart morphology	1376	CPT2	ORPHA:228308
HP:0001627	Abnormal heart morphology	149233	IL23R	ORPHA:117
HP:0001627	Abnormal heart morphology	6775	STAT4	ORPHA:117
HP:0001627	Abnormal heart morphology	3586	IL10	ORPHA:117
HP:0001627	Abnormal heart morphology	4210	MEFV	ORPHA:117
HP:0001627	Abnormal heart morphology	1230	CCR1	ORPHA:117
HP:0001627	Abnormal heart morphology	355	FAS	ORPHA:117
HP:0001627	Abnormal heart morphology	3592	IL12A	ORPHA:117
HP:0001627	Abnormal heart morphology	101928376	IL12A-AS1	ORPHA:117
HP:0001627	Abnormal heart morphology	7099	TLR4	ORPHA:117
HP:0001627	Abnormal heart morphology	3459	IFNGR1	ORPHA:117
HP:0001627	Abnormal heart morphology	720	C4A	ORPHA:117
HP:0001627	Abnormal heart morphology	337867	UBAC2	ORPHA:117
HP:0001627	Abnormal heart morphology	51752	ERAP1	ORPHA:117
HP:0001627	Abnormal heart morphology	8302	KLRC4	ORPHA:117
HP:0001627	Abnormal heart morphology	29925	GMPPB	OMIM:615352
HP:0001627	Abnormal heart morphology	29925	GMPPB	ORPHA:370959
HP:0001627	Abnormal heart morphology	29925	GMPPB	ORPHA:363623
HP:0001627	Abnormal heart morphology	80308	FLAD1	OMIM:255100
HP:0001627	Abnormal heart morphology	1161	ERCC8	ORPHA:90324
HP:0001627	Abnormal heart morphology	2074	ERCC6	ORPHA:90324
HP:0001627	Abnormal heart morphology	50484	RRM2B	ORPHA:329336
HP:0001627	Abnormal heart morphology	50484	RRM2B	ORPHA:480
HP:0001627	Abnormal heart morphology	246243	RNASEH1	ORPHA:329336
HP:0001627	Abnormal heart morphology	50717	DCAF8	OMIM:610100
HP:0001627	Abnormal heart morphology	1355	COX15	OMIM:615119
HP:0001627	Abnormal heart morphology	2997	GYS1	OMIM:611556
HP:0001627	Abnormal heart morphology	148738	HJV	OMIM:602390
HP:0001627	Abnormal heart morphology	4703	NEB	ORPHA:171433
HP:0001627	Abnormal heart morphology	4703	NEB	ORPHA:171439
HP:0001627	Abnormal heart morphology	4703	NEB	ORPHA:399103
HP:0001627	Abnormal heart morphology	10324	KLHL41	ORPHA:171433
HP:0001627	Abnormal heart morphology	10324	KLHL41	ORPHA:171439
HP:0001627	Abnormal heart morphology	1352	COX10	OMIM:619046
HP:0001627	Abnormal heart morphology	25782	RAB3GAP2	OMIM:212720
HP:0001627	Abnormal heart morphology	30061	SLC40A1	OMIM:606069
HP:0001627	Abnormal heart morphology	3908	LAMA2	ORPHA:258
HP:0001627	Abnormal heart morphology	11155	LDB3	OMIM:609452
HP:0001627	Abnormal heart morphology	11155	LDB3	ORPHA:98912
HP:0001627	Abnormal heart morphology	1738	DLD	ORPHA:2394
HP:0001627	Abnormal heart morphology	191	AHCY	OMIM:613752
HP:0001627	Abnormal heart morphology	191	AHCY	ORPHA:88618
HP:0001627	Abnormal heart morphology	8878	SQSTM1	ORPHA:603
HP:0001627	Abnormal heart morphology	7072	TIA1	ORPHA:603
HP:0001627	Abnormal heart morphology	7555	CNBP	ORPHA:606
HP:0001627	Abnormal heart morphology	9499	MYOT	OMIM:609200
HP:0001627	Abnormal heart morphology	9499	MYOT	ORPHA:98911
HP:0001627	Abnormal heart morphology	10020	GNE	ORPHA:602
HP:0001627	Abnormal heart morphology	10555	AGPAT2	OMIM:608594
HP:0001627	Abnormal heart morphology	5095	PCCA	OMIM:606054
HP:0001627	Abnormal heart morphology	5095	PCCA	ORPHA:35
HP:0001627	Abnormal heart morphology	5096	PCCB	OMIM:606054
HP:0001627	Abnormal heart morphology	5096	PCCB	ORPHA:35
HP:0001627	Abnormal heart morphology	10367	MICU1	ORPHA:401768
HP:0001627	Abnormal heart morphology	7466	WFS1	OMIM:222300
HP:0001627	Abnormal heart morphology	7466	WFS1	ORPHA:3463
HP:0001627	Abnormal heart morphology	2992	GYG1	ORPHA:263297
HP:0001627	Abnormal heart morphology	10352	WARS2	ORPHA:572798
HP:0001627	Abnormal heart morphology	10352	WARS2	OMIM:617710
HP:0001627	Abnormal heart morphology	2395	FXN	ORPHA:95
HP:0001627	Abnormal heart morphology	788	SLC25A20	ORPHA:159
HP:0001627	Abnormal heart morphology	788	SLC25A20	OMIM:212138
HP:0001627	Abnormal heart morphology	5373	PMM2	OMIM:212065
HP:0001627	Abnormal heart morphology	10585	POMT1	OMIM:609308
HP:0001627	Abnormal heart morphology	10585	POMT1	ORPHA:370959
HP:0001627	Abnormal heart morphology	10585	POMT1	ORPHA:86812
HP:0001627	Abnormal heart morphology	10585	POMT1	OMIM:613155
HP:0001627	Abnormal heart morphology	51594	NBAS	OMIM:616483
HP:0001627	Abnormal heart morphology	1594	CYP27B1	ORPHA:289157
HP:0001627	Abnormal heart morphology	120227	CYP2R1	ORPHA:289157
HP:0001627	Abnormal heart morphology	2318	FLNC	OMIM:614065
HP:0001627	Abnormal heart morphology	2318	FLNC	ORPHA:171445
HP:0001627	Abnormal heart morphology	2318	FLNC	ORPHA:63273
HP:0001627	Abnormal heart morphology	84665	MYPN	OMIM:617336
HP:0001627	Abnormal heart morphology	84665	MYPN	ORPHA:171439
HP:0001627	Abnormal heart morphology	8239	USP9X	ORPHA:480880
HP:0001627	Abnormal heart morphology	7058	THBS2	OMIM:620865
HP:0001627	Abnormal heart morphology	3418	IDH2	OMIM:613657
HP:0001627	Abnormal heart morphology	773	CACNA1A	ORPHA:2131
HP:0001627	Abnormal heart morphology	6507	SLC1A3	ORPHA:2131
HP:0001627	Abnormal heart morphology	477	ATP1A2	ORPHA:2131
HP:0001627	Abnormal heart morphology	478	ATP1A3	ORPHA:2131
HP:0001627	Abnormal heart morphology	493856	CISD2	ORPHA:3463
HP:0001627	Abnormal heart morphology	9049	AIP	OMIM:102200
HP:0001627	Abnormal heart morphology	728294	D2HGDH	OMIM:600721
HP:0001627	Abnormal heart morphology	2934	GSN	ORPHA:85448
HP:0001627	Abnormal heart morphology	2934	GSN	OMIM:105120
HP:0001627	Abnormal heart morphology	111	ADCY5	OMIM:619647
HP:0001627	Abnormal heart morphology	111	ADCY5	OMIM:619651
HP:0001627	Abnormal heart morphology	25973	PARS2	OMIM:618437
HP:0001627	Abnormal heart morphology	3178	HNRNPA1	ORPHA:52430
HP:0001627	Abnormal heart morphology	7415	VCP	ORPHA:52430
HP:0001627	Abnormal heart morphology	7415	VCP	ORPHA:329478
HP:0001627	Abnormal heart morphology	3181	HNRNPA2B1	ORPHA:52430
HP:0001627	Abnormal heart morphology	57724	EPG5	OMIM:242840
HP:0001627	Abnormal heart morphology	57724	EPG5	ORPHA:1493
HP:0001627	Abnormal heart morphology	2239	GPC4	ORPHA:373
HP:0001627	Abnormal heart morphology	2239	GPC4	OMIM:312870
HP:0001627	Abnormal heart morphology	2719	GPC3	ORPHA:373
HP:0001627	Abnormal heart morphology	2719	GPC3	OMIM:312870
HP:0001627	Abnormal heart morphology	390594	KBTBD13	ORPHA:171439
HP:0001627	Abnormal heart morphology	57817	HAMP	OMIM:613313
HP:0001627	Abnormal heart morphology	404672	GTF2H5	ORPHA:33364
HP:0001627	Abnormal heart morphology	833	CARS1	ORPHA:33364
HP:0001627	Abnormal heart morphology	2068	ERCC2	ORPHA:33364
HP:0001627	Abnormal heart morphology	7737	RNF113A	ORPHA:33364
HP:0001627	Abnormal heart morphology	136647	MPLKIP	ORPHA:33364
HP:0001627	Abnormal heart morphology	6897	TARS1	ORPHA:33364
HP:0001627	Abnormal heart morphology	16	AARS1	ORPHA:33364
HP:0001627	Abnormal heart morphology	2071	ERCC3	ORPHA:33364
HP:0001627	Abnormal heart morphology	2961	GTF2E2	ORPHA:33364
HP:0001627	Abnormal heart morphology	10195	ALG3	ORPHA:79321
HP:0001627	Abnormal heart morphology	23676	SMPX	OMIM:301075
HP:0001627	Abnormal heart morphology	4509	MT-ATP8	ORPHA:480
HP:0001627	Abnormal heart morphology	4567	MT-TL1	ORPHA:480
HP:0001627	Abnormal heart morphology	4567	MT-TL1	ORPHA:550
HP:0001627	Abnormal heart morphology	4567	MT-TL1	ORPHA:324525
HP:0001627	Abnormal heart morphology	5256	PHKA2	ORPHA:264580
HP:0001627	Abnormal heart morphology	5261	PHKG2	ORPHA:264580
HP:0001627	Abnormal heart morphology	8216	LZTR1	OMIM:605275
HP:0001627	Abnormal heart morphology	6443	SGCB	ORPHA:119
HP:0001627	Abnormal heart morphology	4594	MMUT	ORPHA:79312
HP:0001627	Abnormal heart morphology	4594	MMUT	OMIM:251000
HP:0001627	Abnormal heart morphology	4558	MT-TF	ORPHA:550
HP:0001627	Abnormal heart morphology	4572	MT-TQ	ORPHA:550
HP:0001627	Abnormal heart morphology	4512	MT-CO1	ORPHA:550
HP:0001627	Abnormal heart morphology	4513	MT-CO2	ORPHA:550
HP:0001627	Abnormal heart morphology	4514	MT-CO3	ORPHA:550
HP:0001627	Abnormal heart morphology	4578	MT-TW	ORPHA:550
HP:0001627	Abnormal heart morphology	4540	MT-ND5	ORPHA:550
HP:0001627	Abnormal heart morphology	4541	MT-ND6	ORPHA:550
HP:0001627	Abnormal heart morphology	4535	MT-ND1	ORPHA:550
HP:0001627	Abnormal heart morphology	4538	MT-ND4	ORPHA:550
HP:0001627	Abnormal heart morphology	4574	MT-TS1	ORPHA:550
HP:0001627	Abnormal heart morphology	4575	MT-TS2	ORPHA:550
HP:0001627	Abnormal heart morphology	4564	MT-TH	ORPHA:550
HP:0001627	Abnormal heart morphology	2632	GBE1	OMIM:232500
HP:0001627	Abnormal heart morphology	1410	CRYAB	ORPHA:399058
HP:0001627	Abnormal heart morphology	4508	MT-ATP6	ORPHA:320360
HP:0001627	Abnormal heart morphology	1756	DMD	OMIM:310200
HP:0001627	Abnormal heart morphology	1756	DMD	ORPHA:98896
HP:0001627	Abnormal heart morphology	1756	DMD	OMIM:300376
HP:0001627	Abnormal heart morphology	5428	POLG	OMIM:258450
HP:0001627	Abnormal heart morphology	5428	POLG	ORPHA:254886
HP:0001627	Abnormal heart morphology	81570	CLPB	ORPHA:445038
HP:0001627	Abnormal heart morphology	411	ARSB	OMIM:253200
HP:0001627	Abnormal heart morphology	6442	SGCA	OMIM:608099
HP:0001627	Abnormal heart morphology	7084	TK2	ORPHA:254886
HP:0001627	Abnormal heart morphology	3714	JAG2	OMIM:619566
HP:0001627	Abnormal heart morphology	10073	SNUPN	OMIM:620793
HP:0001627	Abnormal heart morphology	3756	KCNH1	OMIM:135500
HP:0001627	Abnormal heart morphology	10560	SLC19A2	OMIM:249270
HP:0001627	Abnormal heart morphology	10616	RBCK1	OMIM:615895
HP:0001627	Abnormal heart morphology	9325	TRIP4	OMIM:616866
HP:0001627	Abnormal heart morphology	56652	TWNK	OMIM:609286
HP:0001627	Abnormal heart morphology	2771	GNAI2	OMIM:192605
HP:0001627	Abnormal heart morphology	8425	LTBP4	ORPHA:98896
HP:0001627	Abnormal heart morphology	4976	OPA1	ORPHA:1215
HP:0001627	Abnormal heart morphology	6197	RPS6KA3	ORPHA:192
HP:0001627	Abnormal heart morphology	51095	TRNT1	OMIM:616084
HP:0001627	Abnormal heart morphology	4576	MT-TT	ORPHA:254857
HP:0001627	Abnormal heart morphology	35	ACADS	OMIM:201470
HP:0001627	Abnormal heart morphology	35	ACADS	ORPHA:26792
HP:0001627	Abnormal heart morphology	3257	HPS1	OMIM:203300
HP:0001627	Abnormal heart morphology	3704	ITPA	OMIM:616647
HP:0001627	Abnormal heart morphology	3032	HADHB	ORPHA:746
HP:0001627	Abnormal heart morphology	3030	HADHA	ORPHA:746
HP:0001627	Abnormal heart morphology	3030	HADHA	OMIM:609016
HP:0001627	Abnormal heart morphology	7036	TFR2	OMIM:604250
HP:0001627	Abnormal heart morphology	79147	FKRP	ORPHA:370959
HP:0001627	Abnormal heart morphology	29954	POMT2	ORPHA:370959
HP:0001627	Abnormal heart morphology	84197	POMK	ORPHA:370959
HP:0001627	Abnormal heart morphology	55624	POMGNT1	ORPHA:370959
HP:0001627	Abnormal heart morphology	4716	NDUFB10	OMIM:619003
HP:0001627	Abnormal heart morphology	7504	XK	OMIM:300842
HP:0001627	Abnormal heart morphology	283459	GATC	OMIM:618839
HP:0001627	Abnormal heart morphology	55670	PEX26	ORPHA:772
HP:0001627	Abnormal heart morphology	5824	PEX19	ORPHA:772
HP:0001627	Abnormal heart morphology	5828	PEX2	ORPHA:772
HP:0001627	Abnormal heart morphology	8504	PEX3	ORPHA:772
HP:0001627	Abnormal heart morphology	9409	PEX16	ORPHA:772
HP:0001627	Abnormal heart morphology	5190	PEX6	ORPHA:772
HP:0001627	Abnormal heart morphology	8799	PEX11B	ORPHA:772
HP:0001627	Abnormal heart morphology	5189	PEX1	ORPHA:772
HP:0001627	Abnormal heart morphology	5193	PEX12	ORPHA:772
HP:0001627	Abnormal heart morphology	5194	PEX13	ORPHA:772
HP:0001627	Abnormal heart morphology	5195	PEX14	ORPHA:772
HP:0001627	Abnormal heart morphology	5192	PEX10	ORPHA:772
HP:0001627	Abnormal heart morphology	7428	VHL	ORPHA:892
HP:0001627	Abnormal heart morphology	595	CCND1	ORPHA:892
HP:0001627	Abnormal heart morphology	178	AGL	OMIM:232400
HP:0001627	Abnormal heart morphology	51099	ABHD5	ORPHA:98907
HP:0001627	Abnormal heart morphology	84700	MYO18B	OMIM:616549
HP:0001627	Abnormal heart morphology	55005	RMND1	OMIM:614922
HP:0001627	Abnormal heart morphology	3643	INSR	ORPHA:769
HP:0001627	Abnormal heart morphology	23224	SYNE2	OMIM:612999
HP:0001627	Abnormal heart morphology	203859	ANO5	ORPHA:206549
HP:0001627	Abnormal heart morphology	25915	NDUFAF3	ORPHA:2609
HP:0001627	Abnormal heart morphology	51103	NDUFAF1	ORPHA:2609
HP:0001627	Abnormal heart morphology	51103	NDUFAF1	OMIM:618234
HP:0001627	Abnormal heart morphology	91942	NDUFAF2	ORPHA:2609
HP:0001627	Abnormal heart morphology	51300	TIMMDC1	ORPHA:2609
HP:0001627	Abnormal heart morphology	4723	NDUFV1	ORPHA:2609
HP:0001627	Abnormal heart morphology	55572	FOXRED1	ORPHA:2609
HP:0001627	Abnormal heart morphology	55572	FOXRED1	OMIM:618241
HP:0001627	Abnormal heart morphology	284184	NDUFAF8	ORPHA:2609
HP:0001627	Abnormal heart morphology	4537	MT-ND3	ORPHA:2609
HP:0001627	Abnormal heart morphology	4537	MT-ND3	ORPHA:255210
HP:0001627	Abnormal heart morphology	4729	NDUFV2	ORPHA:2609
HP:0001627	Abnormal heart morphology	4729	NDUFV2	OMIM:618229
HP:0001627	Abnormal heart morphology	4694	NDUFA1	ORPHA:2609
HP:0001627	Abnormal heart morphology	4720	NDUFS2	ORPHA:2609
HP:0001627	Abnormal heart morphology	4720	NDUFS2	OMIM:618228
HP:0001627	Abnormal heart morphology	4724	NDUFS4	ORPHA:2609
HP:0001627	Abnormal heart morphology	4724	NDUFS4	OMIM:252010
HP:0001627	Abnormal heart morphology	4726	NDUFS6	ORPHA:2609
HP:0001627	Abnormal heart morphology	4728	NDUFS8	ORPHA:2609
HP:0001627	Abnormal heart morphology	4728	NDUFS8	OMIM:618222
HP:0001627	Abnormal heart morphology	4722	NDUFS3	ORPHA:2609
HP:0001627	Abnormal heart morphology	79133	NDUFAF5	ORPHA:2609
HP:0001627	Abnormal heart morphology	126328	NDUFA11	ORPHA:2609
HP:0001627	Abnormal heart morphology	126328	NDUFA11	OMIM:618236
HP:0001627	Abnormal heart morphology	4709	NDUFB3	ORPHA:2609
HP:0001627	Abnormal heart morphology	80224	NUBPL	ORPHA:2609
HP:0001627	Abnormal heart morphology	29078	NDUFAF4	ORPHA:2609
HP:0001627	Abnormal heart morphology	29078	NDUFAF4	OMIM:618237
HP:0001627	Abnormal heart morphology	374291	NDUFS7	ORPHA:2609
HP:0001627	Abnormal heart morphology	4700	NDUFA6	ORPHA:2609
HP:0001627	Abnormal heart morphology	4536	MT-ND2	ORPHA:2609
HP:0001627	Abnormal heart morphology	4536	MT-ND2	ORPHA:255210
HP:0001627	Abnormal heart morphology	4719	NDUFS1	ORPHA:2609
HP:0001627	Abnormal heart morphology	4715	NDUFB9	ORPHA:2609
HP:0001627	Abnormal heart morphology	4570	MT-TN	OMIM:220110
HP:0001627	Abnormal heart morphology	6834	SURF1	OMIM:220110
HP:0001627	Abnormal heart morphology	55532	SLC30A10	ORPHA:309854
HP:0001627	Abnormal heart morphology	84334	COA8	ORPHA:436271
HP:0001627	Abnormal heart morphology	57176	VARS2	OMIM:615917
HP:0001627	Abnormal heart morphology	9690	UBE3C	OMIM:620270
HP:0001627	Abnormal heart morphology	4577	MT-TV	ORPHA:255210
HP:0001627	Abnormal heart morphology	4566	MT-TK	ORPHA:255210
HP:0001627	Abnormal heart morphology	4566	MT-TK	ORPHA:1349
HP:0001627	Abnormal heart morphology	84987	COX14	OMIM:619053
HP:0001627	Abnormal heart morphology	514	ATP5F1E	ORPHA:254913
HP:0001627	Abnormal heart morphology	514	ATP5F1E	OMIM:614053
HP:0001627	Abnormal heart morphology	513	ATP5F1D	ORPHA:254913
HP:0001627	Abnormal heart morphology	498	ATP5F1A	ORPHA:254913
HP:0001627	Abnormal heart morphology	84833	ATP5MK	ORPHA:254913
HP:0001627	Abnormal heart morphology	84833	ATP5MK	OMIM:618683
HP:0001627	Abnormal heart morphology	91647	ATPAF2	ORPHA:254913
HP:0001627	Abnormal heart morphology	1757	SARDH	ORPHA:3129
HP:0001627	Abnormal heart morphology	5468	PPARG	ORPHA:79083
HP:0001627	Abnormal heart morphology	5468	PPARG	ORPHA:528
HP:0001627	Abnormal heart morphology	5350	PLN	OMIM:613874
HP:0001627	Abnormal heart morphology	91624	NEXN	OMIM:613876
HP:0001627	Abnormal heart morphology	29967	LRP12	OMIM:164310
HP:0001627	Abnormal heart morphology	54675	CRLS1	OMIM:620167
HP:0001627	Abnormal heart morphology	7274	TTPA	ORPHA:96
HP:0001627	Abnormal heart morphology	388962	BOLA3	OMIM:614299
HP:0001627	Abnormal heart morphology	28976	ACAD9	ORPHA:99901
HP:0001627	Abnormal heart morphology	28976	ACAD9	OMIM:611126
HP:0001627	Abnormal heart morphology	7168	TPM1	OMIM:115196
HP:0001627	Abnormal heart morphology	65080	MRPL44	OMIM:615395
HP:0001627	Abnormal heart morphology	8557	TCAP	OMIM:607487
HP:0001627	Abnormal heart morphology	55210	ATAD3A	ORPHA:496790
HP:0001627	Abnormal heart morphology	55210	ATAD3A	OMIM:618810
HP:0001627	Abnormal heart morphology	55210	ATAD3A	OMIM:617183
HP:0001627	Abnormal heart morphology	4285	MIPEP	OMIM:617228
HP:0001627	Abnormal heart morphology	4221	MEN1	ORPHA:99725
HP:0001627	Abnormal heart morphology	10661	KLF1	OMIM:613673
HP:0001627	Abnormal heart morphology	125988	MICOS13	OMIM:618329
HP:0001627	Abnormal heart morphology	6390	SDHB	ORPHA:3208
HP:0001627	Abnormal heart morphology	6392	SDHD	ORPHA:3208
HP:0001627	Abnormal heart morphology	644096	SDHAF1	ORPHA:3208
HP:0001627	Abnormal heart morphology	54148	MRPL39	OMIM:620646
HP:0001627	Abnormal heart morphology	122622	ADSS1	ORPHA:482601
HP:0001627	Abnormal heart morphology	2184	FAH	OMIM:276700
HP:0001627	Abnormal heart morphology	5836	PYGL	ORPHA:369
HP:0001627	Abnormal heart morphology	5837	PYGM	ORPHA:368
HP:0001627	Abnormal heart morphology	2010	EMD	ORPHA:98863
HP:0001627	Abnormal heart morphology	56246	MRAP	ORPHA:361
HP:0001627	Abnormal heart morphology	6770	STAR	ORPHA:361
HP:0001627	Abnormal heart morphology	4158	MC2R	ORPHA:361
HP:0001627	Abnormal heart morphology	23530	NNT	ORPHA:361
HP:0001627	Abnormal heart morphology	10587	TXNRD2	ORPHA:361
HP:0001627	Abnormal heart morphology	1892	ECHS1	OMIM:616277
HP:0001627	Abnormal heart morphology	51067	YARS2	OMIM:613561
HP:0001627	Abnormal heart morphology	58497	PRUNE1	ORPHA:544469
HP:0001627	Abnormal heart morphology	826	CAPNS1	OMIM:620777
HP:0001627	Abnormal heart morphology	7351	UCP2	ORPHA:276556
HP:0001627	Abnormal heart morphology	84705	GTPBP3	ORPHA:444013
HP:0001627	Abnormal heart morphology	84705	GTPBP3	OMIM:616198
HP:0001627	Abnormal heart morphology	79188	TMEM43	ORPHA:98853
HP:0001627	Abnormal heart morphology	23345	SYNE1	ORPHA:98853
HP:0001627	Abnormal heart morphology	3033	HADH	OMIM:231530
HP:0001627	Abnormal heart morphology	3033	HADH	ORPHA:71212
HP:0001627	Abnormal heart morphology	5250	SLC25A3	ORPHA:91130
HP:0001627	Abnormal heart morphology	5250	SLC25A3	OMIM:610773
HP:0001627	Abnormal heart morphology	291	SLC25A4	ORPHA:1369
HP:0001627	Abnormal heart morphology	291	SLC25A4	OMIM:615418
HP:0001627	Abnormal heart morphology	291	SLC25A4	OMIM:617184
HP:0001627	Abnormal heart morphology	26007	TKFC	ORPHA:1369
HP:0001627	Abnormal heart morphology	55750	AGK	ORPHA:1369
HP:0001627	Abnormal heart morphology	55750	AGK	OMIM:212350
HP:0001627	Abnormal heart morphology	56945	MRPS22	OMIM:611719
HP:0001627	Abnormal heart morphology	4695	NDUFA2	OMIM:618235
HP:0001627	Abnormal heart morphology	79068	FTO	OMIM:612938
HP:0001627	Abnormal heart morphology	27235	COQ2	OMIM:607426
HP:0001627	Abnormal heart morphology	4705	NDUFA10	OMIM:618243
HP:0001627	Abnormal heart morphology	388753	COA6	OMIM:616501
HP:0001627	Abnormal heart morphology	11080	DNAJB4	OMIM:620326
HP:0001627	Abnormal heart morphology	63931	MRPS14	OMIM:618378
HP:0001627	Abnormal heart morphology	8802	SUCLG1	ORPHA:17
HP:0001627	Abnormal heart morphology	7289	TULP3	OMIM:619902
HP:0001627	Abnormal heart morphology	7134	TNNC1	OMIM:613243
HP:0001627	Abnormal heart morphology	128989	TANGO2	OMIM:616878
HP:0001627	Abnormal heart morphology	9531	BAG3	OMIM:612954
HP:0001627	Abnormal heart morphology	4624	MYH6	OMIM:613251
HP:0001627	Abnormal heart morphology	11019	LIAS	OMIM:614462
HP:0001627	Abnormal heart morphology	26580	BSCL2	OMIM:269700
HP:0001627	Abnormal heart morphology	26580	BSCL2	ORPHA:528
HP:0001627	Abnormal heart morphology	11222	MRPL3	OMIM:614582
HP:0001627	Abnormal heart morphology	7167	TPI1	ORPHA:868
HP:0001627	Abnormal heart morphology	10112	KIF20A	ORPHA:75249
HP:0001627	Abnormal heart morphology	7040	TGFB1	ORPHA:1328
HP:0001627	Abnormal heart morphology	6472	SHMT2	OMIM:619121
HP:0001627	Abnormal heart morphology	60528	ELAC2	OMIM:615440
HP:0001627	Abnormal heart morphology	55278	QRSL1	OMIM:618835
HP:0001627	Abnormal heart morphology	57570	TRMT5	OMIM:616539
HP:0001627	Abnormal heart morphology	617	BCS1L	OMIM:124000
HP:0001627	Abnormal heart morphology	284119	CAVIN1	ORPHA:528
HP:0001627	Abnormal heart morphology	2353	FOS	ORPHA:528
HP:0001627	Abnormal heart morphology	857	CAV1	ORPHA:528
HP:0001627	Abnormal heart morphology	84233	TMEM126A	OMIM:612989
HP:0001627	Abnormal heart morphology	51778	MYOZ2	OMIM:613838
HP:0001627	Abnormal heart morphology	9054	NFS1	OMIM:619386
HP:0001627	Abnormal heart morphology	96459	FNIP1	OMIM:619705
HP:0001627	Abnormal heart morphology	22868	FASTKD2	OMIM:618855
HP:0001627	Abnormal heart morphology	51422	PRKAG2	OMIM:261740
HP:0001627	Abnormal heart morphology	1832	DSP	ORPHA:158687
HP:0001627	Abnormal heart morphology	1317	SLC31A1	OMIM:620306
HP:0001627	Abnormal heart morphology	25821	MTO1	OMIM:614702
HP:0001627	Abnormal heart morphology	8291	DYSF	ORPHA:268
HP:0001627	Abnormal heart morphology	55315	SLC29A3	OMIM:602782
HP:0001627	Abnormal heart morphology	91754	NEK9	OMIM:617022
HP:0001627	Abnormal heart morphology	3074	HEXB	OMIM:268800
HP:0001627	Abnormal heart morphology	5191	PEX7	OMIM:266500
HP:0001627	Abnormal heart morphology	5264	PHYH	OMIM:266500
HP:0001627	Abnormal heart morphology	5698	PSMB9	OMIM:620796
HP:0001627	Abnormal heart morphology	3764	KCNJ8	ORPHA:1517
HP:0001627	Abnormal heart morphology	10060	ABCC9	ORPHA:1517
HP:0001627	Abnormal heart morphology	10060	ABCC9	OMIM:239850
HP:0001627	Abnormal heart morphology	79158	GNPTAB	OMIM:252500
HP:0001627	Abnormal heart morphology	1340	COX6B1	OMIM:619051
HP:0001627	Abnormal heart morphology	7547	ZIC3	OMIM:306955
HP:0001627	Abnormal heart morphology	64135	IFIH1	OMIM:182250
HP:0001627	Abnormal heart morphology	64135	IFIH1	ORPHA:51
HP:0001627	Abnormal heart morphology	4718	NDUFC2	OMIM:619170
HP:0001627	Abnormal heart morphology	3043	HBB	OMIM:603903
HP:0001627	Abnormal heart morphology	8260	NAA10	OMIM:300855
HP:0001627	Abnormal heart morphology	6773	STAT2	OMIM:618886
HP:0001627	Abnormal heart morphology	708	C1QBP	OMIM:617713
HP:0001627	Abnormal heart morphology	7276	TTR	OMIM:105210
HP:0001627	Abnormal heart morphology	7276	TTR	ORPHA:85447
HP:0001627	Abnormal heart morphology	7276	TTR	ORPHA:85451
HP:0001627	Abnormal heart morphology	4547	MTTP	ORPHA:14
HP:0001627	Abnormal heart morphology	9377	COX5A	OMIM:619064
HP:0001627	Abnormal heart morphology	171023	ASXL1	ORPHA:97297
HP:0001627	Abnormal heart morphology	9896	FIG4	ORPHA:3472
HP:0001627	Abnormal heart morphology	55697	VAC14	ORPHA:3472
HP:0001627	Abnormal heart morphology	22884	WDR37	OMIM:618652
HP:0001627	Abnormal heart morphology	1193	CLIC2	ORPHA:324410
HP:0001627	Abnormal heart morphology	88	ACTN2	OMIM:618654
HP:0001627	Abnormal heart morphology	64121	RRAGC	OMIM:620609
HP:0001627	Abnormal heart morphology	5167	ENPP1	OMIM:208000
HP:0001627	Abnormal heart morphology	5167	ENPP1	ORPHA:51608
HP:0001627	Abnormal heart morphology	4591	TRIM37	OMIM:253250
HP:0001627	Abnormal heart morphology	650	BMP2	OMIM:235200
HP:0001627	Abnormal heart morphology	3077	HFE	OMIM:235200
HP:0001627	Abnormal heart morphology	3077	HFE	ORPHA:465508
HP:0001627	Abnormal heart morphology	3028	HSD17B10	ORPHA:391428
HP:0001627	Abnormal heart morphology	9997	SCO2	OMIM:604377
HP:0001627	Abnormal heart morphology	37	ACADVL	OMIM:201475
HP:0001627	Abnormal heart morphology	4607	MYBPC3	OMIM:115197
HP:0001627	Abnormal heart morphology	368	ABCC6	ORPHA:51608
HP:0001627	Abnormal heart morphology	368	ABCC6	OMIM:614473
HP:0001627	Abnormal heart morphology	94005	PIGS	OMIM:618143
HP:0001627	Abnormal heart morphology	54914	FOCAD	OMIM:619991
HP:0001627	Abnormal heart morphology	2517	FUCA1	OMIM:230000
HP:0001627	Abnormal heart morphology	2517	FUCA1	ORPHA:349
HP:0001627	Abnormal heart morphology	2548	GAA	OMIM:232300
HP:0001627	Abnormal heart morphology	2548	GAA	ORPHA:308552
HP:0001627	Abnormal heart morphology	4519	MT-CYB	ORPHA:137675
HP:0001627	Abnormal heart morphology	6804	STX1A	ORPHA:904
HP:0001627	Abnormal heart morphology	7461	CLIP2	ORPHA:904
HP:0001627	Abnormal heart morphology	84277	DNAJC30	ORPHA:904
HP:0001627	Abnormal heart morphology	8468	FKBP6	ORPHA:904
HP:0001627	Abnormal heart morphology	5982	RFC2	ORPHA:904
HP:0001627	Abnormal heart morphology	2969	GTF2I	ORPHA:904
HP:0001627	Abnormal heart morphology	3984	LIMK1	ORPHA:904
HP:0001627	Abnormal heart morphology	9569	GTF2IRD1	ORPHA:904
HP:0001627	Abnormal heart morphology	155382	VPS37D	ORPHA:904
HP:0001627	Abnormal heart morphology	155368	METTL27	ORPHA:904
HP:0001627	Abnormal heart morphology	114049	BUD23	ORPHA:904
HP:0001627	Abnormal heart morphology	7458	EIF4H	ORPHA:904
HP:0001627	Abnormal heart morphology	84163	GTF2IRD2	ORPHA:904
HP:0001627	Abnormal heart morphology	26608	TBL2	ORPHA:904
HP:0001627	Abnormal heart morphology	653361	NCF1	ORPHA:904
HP:0001627	Abnormal heart morphology	135886	TMEM270	ORPHA:904
HP:0001627	Abnormal heart morphology	9031	BAZ1B	ORPHA:904
HP:0001627	Abnormal heart morphology	2006	ELN	ORPHA:904
HP:0001627	Abnormal heart morphology	2006	ELN	ORPHA:91387
HP:0001627	Abnormal heart morphology	4629	MYH11	ORPHA:229
HP:0001627	Abnormal heart morphology	4629	MYH11	ORPHA:91387
HP:0001627	Abnormal heart morphology	83475	DOHH	OMIM:620066
HP:0001627	Abnormal heart morphology	1674	DES	OMIM:604765
HP:0001627	Abnormal heart morphology	374354	NHLRC2	OMIM:618278
HP:0001627	Abnormal heart morphology	4841	NONO	OMIM:300967
HP:0001627	Abnormal heart morphology	202018	TAPT1	OMIM:616897
HP:0001627	Abnormal heart morphology	5188	GATB	OMIM:618838
HP:0001627	Abnormal heart morphology	200424	TET3	OMIM:618798
HP:0001627	Abnormal heart morphology	5573	PRKAR1A	ORPHA:615
HP:0001627	Abnormal heart morphology	7841	MOGS	ORPHA:79330
HP:0001627	Abnormal heart morphology	2273	FHL1	OMIM:300280
HP:0001627	Abnormal heart morphology	34	ACADM	ORPHA:42
HP:0001627	Abnormal heart morphology	775	CACNA1C	OMIM:601005
HP:0001627	Abnormal heart morphology	3920	LAMP2	OMIM:300257
HP:0001627	Abnormal heart morphology	6389	SDHA	OMIM:619259
HP:0001627	Abnormal heart morphology	26503	SLC17A5	OMIM:269920
HP:0001627	Abnormal heart morphology	1028	CDKN1C	OMIM:130650
HP:0001627	Abnormal heart morphology	3481	IGF2	OMIM:130650
HP:0001627	Abnormal heart morphology	3784	KCNQ1	OMIM:130650
HP:0001627	Abnormal heart morphology	10984	KCNQ1OT1	OMIM:130650
HP:0001627	Abnormal heart morphology	1374	CPT1A	OMIM:255120
HP:0001627	Abnormal heart morphology	4668	NAGA	ORPHA:79280
HP:0001627	Abnormal heart morphology	25836	NIPBL	OMIM:122470
HP:0001627	Abnormal heart morphology	5236	PGM1	OMIM:614921
HP:0001627	Abnormal heart morphology	654	BMP6	ORPHA:465508
HP:0001627	Abnormal heart morphology	79645	CLXN	OMIM:620642
HP:0001627	Abnormal heart morphology	9469	CHST3	OMIM:245600
HP:0001627	Abnormal heart morphology	26229	B3GAT3	OMIM:245600
HP:0001627	Abnormal heart morphology	57538	ALPK3	OMIM:618052
HP:0001627	Abnormal heart morphology	57505	AARS2	OMIM:614096
HP:0001627	Abnormal heart morphology	51025	PAM16	OMIM:613320
HP:0001627	Abnormal heart morphology	335	APOA1	OMIM:620657
HP:0001627	Abnormal heart morphology	4713	NDUFB7	OMIM:620135
HP:0001627	Abnormal heart morphology	5696	PSMB8	OMIM:256040
HP:0001627	Abnormal heart morphology	4669	NAGLU	OMIM:252920
HP:0001627	Abnormal heart morphology	10535	RNASEH2A	ORPHA:51
HP:0001627	Abnormal heart morphology	84153	RNASEH2C	ORPHA:51
HP:0001627	Abnormal heart morphology	25939	SAMHD1	ORPHA:51
HP:0001627	Abnormal heart morphology	79621	RNASEH2B	ORPHA:51
HP:0001627	Abnormal heart morphology	103	ADAR	ORPHA:51
HP:0001627	Abnormal heart morphology	11277	TREX1	ORPHA:51
HP:0001627	Abnormal heart morphology	100147744	RNU7-1	ORPHA:51
HP:0001627	Abnormal heart morphology	134353	LSM11	ORPHA:51
HP:0001627	Abnormal heart morphology	4067	LYN	OMIM:620376
HP:0001627	Abnormal heart morphology	7046	TGFBR1	ORPHA:91387
HP:0001627	Abnormal heart morphology	7048	TGFBR2	ORPHA:91387
HP:0001627	Abnormal heart morphology	4015	LOX	ORPHA:91387
HP:0001627	Abnormal heart morphology	4087	SMAD2	ORPHA:91387
HP:0001627	Abnormal heart morphology	7043	TGFB3	ORPHA:91387
HP:0001627	Abnormal heart morphology	7042	TGFB2	ORPHA:91387
HP:0001627	Abnormal heart morphology	4089	SMAD4	ORPHA:91387
HP:0001627	Abnormal heart morphology	2200	FBN1	ORPHA:91387
HP:0001627	Abnormal heart morphology	59	ACTA2	ORPHA:91387
HP:0001627	Abnormal heart morphology	5592	PRKG1	ORPHA:91387
HP:0001627	Abnormal heart morphology	2301	FOXE3	ORPHA:91387
HP:0001627	Abnormal heart morphology	4144	MAT2A	ORPHA:91387
HP:0001627	Abnormal heart morphology	23493	HEY2	ORPHA:91387
HP:0001627	Abnormal heart morphology	8076	MFAP5	ORPHA:91387
HP:0001627	Abnormal heart morphology	4638	MYLK	ORPHA:91387
HP:0001627	Abnormal heart morphology	79875	THSD4	ORPHA:91387
HP:0001627	Abnormal heart morphology	90952	ESAM	OMIM:620371
HP:0001627	Abnormal heart morphology	6584	SLC22A5	OMIM:212140
HP:0001627	Abnormal heart morphology	54968	TMEM70	ORPHA:1194
HP:0001627	Abnormal heart morphology	84282	RNF135	ORPHA:137634
HP:0001627	Abnormal heart morphology	22800	RRAS2	ORPHA:648
HP:0001627	Abnormal heart morphology	867	CBL	ORPHA:648
HP:0001627	Abnormal heart morphology	6016	RIT1	ORPHA:648
HP:0001627	Abnormal heart morphology	6237	RRAS	ORPHA:648
HP:0001627	Abnormal heart morphology	22808	MRAS	ORPHA:648
HP:0001627	Abnormal heart morphology	200734	SPRED2	ORPHA:648
HP:0001627	Abnormal heart morphology	4893	NRAS	ORPHA:648
HP:0001627	Abnormal heart morphology	6654	SOS1	ORPHA:648
HP:0001627	Abnormal heart morphology	6655	SOS2	ORPHA:648
HP:0001627	Abnormal heart morphology	5922	RASA2	ORPHA:648
HP:0001627	Abnormal heart morphology	64359	NXN	ORPHA:1507
HP:0001627	Abnormal heart morphology	1312	COMT	ORPHA:567
HP:0001627	Abnormal heart morphology	221037	JMJD1C	ORPHA:567
HP:0001627	Abnormal heart morphology	2812	GP1BB	ORPHA:567
HP:0001627	Abnormal heart morphology	6239	RREB1	ORPHA:567
HP:0001627	Abnormal heart morphology	7290	HIRA	ORPHA:567
HP:0001627	Abnormal heart morphology	9632	SEC24C	ORPHA:567
HP:0001627	Abnormal heart morphology	7353	UFD1	ORPHA:567
HP:0001627	Abnormal heart morphology	421	ARVCF	ORPHA:567
HP:0001627	Abnormal heart morphology	3516	RBPJ	ORPHA:974
HP:0001627	Abnormal heart morphology	4851	NOTCH1	ORPHA:974
HP:0001627	Abnormal heart morphology	57514	ARHGAP31	ORPHA:974
HP:0001627	Abnormal heart morphology	57572	DOCK6	ORPHA:974
HP:0001627	Abnormal heart morphology	285203	EOGT	ORPHA:974
HP:0001627	Abnormal heart morphology	54567	DLL4	ORPHA:974
HP:0001627	Abnormal heart morphology	10312	TCIRG1	ORPHA:667
HP:0001627	Abnormal heart morphology	1186	CLCN7	ORPHA:667
HP:0001627	Abnormal heart morphology	29887	SNX10	ORPHA:667
HP:0001627	Abnormal heart morphology	8600	TNFSF11	ORPHA:667
HP:0001627	Abnormal heart morphology	10486	CAP2	ORPHA:154
HP:0001627	Abnormal heart morphology	10486	CAP2	OMIM:620462
HP:0001627	Abnormal heart morphology	27063	ANKRD1	ORPHA:154
HP:0001627	Abnormal heart morphology	439	GET3	ORPHA:154
HP:0001627	Abnormal heart morphology	5664	PSEN2	ORPHA:154
HP:0001627	Abnormal heart morphology	5664	PSEN2	OMIM:613697
HP:0001627	Abnormal heart morphology	9529	BAG5	ORPHA:154
HP:0001627	Abnormal heart morphology	9529	BAG5	OMIM:619747
HP:0001627	Abnormal heart morphology	2274	FHL2	ORPHA:154
HP:0001627	Abnormal heart morphology	9015	TAF1A	ORPHA:154
HP:0001627	Abnormal heart morphology	5663	PSEN1	ORPHA:154
HP:0001627	Abnormal heart morphology	5663	PSEN1	OMIM:613694
HP:0001627	Abnormal heart morphology	7112	TMPO	ORPHA:154
HP:0001627	Abnormal heart morphology	9464	HAND2	ORPHA:154
HP:0001627	Abnormal heart morphology	1829	DSG2	ORPHA:154
HP:0001627	Abnormal heart morphology	1829	DSG2	OMIM:612877
HP:0001627	Abnormal heart morphology	3910	LAMA4	ORPHA:154
HP:0001627	Abnormal heart morphology	3910	LAMA4	OMIM:615235
HP:0001627	Abnormal heart morphology	79717	PPCS	ORPHA:154
HP:0001627	Abnormal heart morphology	79717	PPCS	OMIM:618189
HP:0001627	Abnormal heart morphology	282996	RBM20	ORPHA:154
HP:0001627	Abnormal heart morphology	282996	RBM20	OMIM:613172
HP:0001627	Abnormal heart morphology	57798	GATAD1	ORPHA:154
HP:0001627	Abnormal heart morphology	57798	GATAD1	OMIM:614672
HP:0001627	Abnormal heart morphology	2070	EYA4	ORPHA:217622
HP:0001627	Abnormal heart morphology	2070	EYA4	OMIM:605362
HP:0001627	Abnormal heart morphology	23417	MLYCD	OMIM:248360
HP:0001627	Abnormal heart morphology	3909	LAMA3	ORPHA:79404
HP:0001627	Abnormal heart morphology	3918	LAMC2	ORPHA:79404
HP:0001627	Abnormal heart morphology	3914	LAMB3	ORPHA:79404
HP:0001627	Abnormal heart morphology	4312	MMP1	ORPHA:79408
HP:0001627	Abnormal heart morphology	1294	COL7A1	ORPHA:79408
HP:0001627	Abnormal heart morphology	1294	COL7A1	ORPHA:89842
HP:0001627	Abnormal heart morphology	7015	TERT	OMIM:613989
HP:0001627	Abnormal heart morphology	58528	RRAGD	OMIM:620152
HP:0001627	Abnormal heart morphology	79184	BRCC3	ORPHA:280679
HP:0001627	Abnormal heart morphology	5777	PTPN6	ORPHA:3243
HP:0001627	Abnormal heart morphology	7156	TOP3A	OMIM:618097
HP:0001627	Abnormal heart morphology	51086	TNNI3K	OMIM:616117
HP:0001627	Abnormal heart morphology	23230	VPS13A	ORPHA:2388
HP:0001627	Abnormal heart morphology	845	CASQ2	OMIM:604772
HP:0001627	Abnormal heart morphology	10345	TRDN	OMIM:604772
HP:0001627	Abnormal heart morphology	6262	RYR2	OMIM:604772
HP:0001627	Abnormal heart morphology	92667	MGME1	ORPHA:352447
HP:0001627	Abnormal heart morphology	92667	MGME1	OMIM:615084
HP:0001627	Abnormal heart morphology	2065	ERBB3	OMIM:607598
HP:0001627	Abnormal heart morphology	55739	NAXD	OMIM:618321
HP:0001627	Abnormal heart morphology	6533	SLC6A6	OMIM:145350
HP:0001627	Abnormal heart morphology	55679	LIMS2	OMIM:616827
HP:0001627	Abnormal heart morphology	54344	DPM3	ORPHA:263494
HP:0001627	Abnormal heart morphology	54344	DPM3	OMIM:612937
HP:0001627	Abnormal heart morphology	11232	POLG2	ORPHA:254892
HP:0001627	Abnormal heart morphology	3155	HMGCL	ORPHA:20
HP:0001627	Abnormal heart morphology	57122	NUP107	OMIM:618348
HP:0001627	Abnormal heart morphology	57122	NUP107	OMIM:616730
HP:0001627	Abnormal heart morphology	10102	TSFM	OMIM:610505
HP:0001627	Abnormal heart morphology	1120	CHKB	OMIM:602541
HP:0001627	Abnormal heart morphology	55182	RNF220	OMIM:619688
HP:0001627	Abnormal heart morphology	27034	ACAD8	OMIM:611283
HP:0001627	Abnormal heart morphology	27034	ACAD8	ORPHA:79159
HP:0001627	Abnormal heart morphology	8884	SLC5A6	OMIM:619903
HP:0001627	Abnormal heart morphology	326625	MMAB	OMIM:251110
HP:0001627	Abnormal heart morphology	7518	XRCC4	OMIM:616541
HP:0001627	Abnormal heart morphology	3762	KCNJ5	ORPHA:37553
HP:0001627	Abnormal heart morphology	3759	KCNJ2	ORPHA:37553
HP:0001627	Abnormal heart morphology	23630	KCNE5	ORPHA:86818
HP:0001627	Abnormal heart morphology	2182	ACSL4	ORPHA:86818
HP:0001627	Abnormal heart morphology	9949	AMMECR1	ORPHA:86818
HP:0001627	Abnormal heart morphology	10269	ZMPSTE24	ORPHA:740
HP:0001627	Abnormal heart morphology	4621	MYH3	ORPHA:2990
HP:0001627	Abnormal heart morphology	8473	OGT	OMIM:300997
HP:0001627	Abnormal heart morphology	6873	TAF2	OMIM:615599
HP:0001627	Abnormal heart morphology	6873	TAF2	ORPHA:397951
HP:0001627	Abnormal heart morphology	6650	CAPN15	OMIM:619318
HP:0001627	Abnormal heart morphology	55764	IFT122	OMIM:218330
HP:0001627	Abnormal heart morphology	60	ACTB	OMIM:243310
HP:0001627	Abnormal heart morphology	1909	EDNRA	OMIM:616367
HP:0001627	Abnormal heart morphology	79753	SNIP1	OMIM:614501
HP:0001627	Abnormal heart morphology	54828	BCAS3	OMIM:619641
HP:0001627	Abnormal heart morphology	2222	FDFT1	OMIM:618156
HP:0001627	Abnormal heart morphology	9371	KIF3B	OMIM:618955
HP:0001627	Abnormal heart morphology	6736	SRY	ORPHA:1772
HP:0001627	Abnormal heart morphology	6720	SREBF1	OMIM:158310
HP:0001627	Abnormal heart morphology	1080	CFTR	OMIM:219700
HP:0001627	Abnormal heart morphology	695	BTK	OMIM:300755
HP:0001627	Abnormal heart morphology	5311	PKD2	OMIM:613095
HP:0001627	Abnormal heart morphology	23241	PACS2	OMIM:618067
HP:0001627	Abnormal heart morphology	55329	MNS1	OMIM:618948
HP:0001627	Abnormal heart morphology	6091	ROBO1	OMIM:620305
HP:0001627	Abnormal heart morphology	146845	CFAP52	OMIM:619607
HP:0001627	Abnormal heart morphology	388389	DNAAF19	OMIM:614679
HP:0001627	Abnormal heart morphology	54806	AHI1	ORPHA:220493
HP:0001627	Abnormal heart morphology	56623	INPP5E	ORPHA:220493
HP:0001627	Abnormal heart morphology	153241	CEP120	ORPHA:220493
HP:0001627	Abnormal heart morphology	95681	CEP41	ORPHA:220493
HP:0001627	Abnormal heart morphology	78987	CRELD1	OMIM:606217
HP:0001627	Abnormal heart morphology	23483	TGDS	OMIM:616145
HP:0001627	Abnormal heart morphology	84667	HES7	OMIM:613686
HP:0001627	Abnormal heart morphology	1954	MEGF8	OMIM:614976
HP:0001627	Abnormal heart morphology	80781	COL18A1	ORPHA:1571
HP:0001627	Abnormal heart morphology	5062	PAK2	ORPHA:1571
HP:0001627	Abnormal heart morphology	375	ARF1	ORPHA:98892
HP:0001627	Abnormal heart morphology	4131	MAP1B	ORPHA:98892
HP:0001627	Abnormal heart morphology	23327	NEDD4L	ORPHA:98892
HP:0001627	Abnormal heart morphology	160418	TMTC3	ORPHA:98892
HP:0001627	Abnormal heart morphology	10564	ARFGEF2	ORPHA:98892
HP:0001627	Abnormal heart morphology	55780	ERMARD	ORPHA:98892
HP:0001627	Abnormal heart morphology	274	BIN1	ORPHA:169186
HP:0001627	Abnormal heart morphology	10290	SPEG	ORPHA:169186
HP:0001627	Abnormal heart morphology	6261	RYR1	ORPHA:169186
HP:0001627	Abnormal heart morphology	7273	TTN	ORPHA:169186
HP:0001627	Abnormal heart morphology	6609	SMPD1	ORPHA:77293
HP:0001627	Abnormal heart morphology	3423	IDS	OMIM:309900
HP:0001627	Abnormal heart morphology	3423	IDS	ORPHA:217085
HP:0001627	Abnormal heart morphology	3423	IDS	ORPHA:217093
HP:0001627	Abnormal heart morphology	2588	GALNS	OMIM:253000
HP:0001627	Abnormal heart morphology	2990	GUSB	OMIM:253220
HP:0001627	Abnormal heart morphology	2720	GLB1	OMIM:230500
HP:0001627	Abnormal heart morphology	5604	MAP2K1	ORPHA:1340
HP:0001627	Abnormal heart morphology	5605	MAP2K2	ORPHA:1340
HP:0001627	Abnormal heart morphology	3845	KRAS	ORPHA:1340
HP:0001627	Abnormal heart morphology	673	BRAF	ORPHA:1340
HP:0001627	Abnormal heart morphology	5590	PRKCZ	ORPHA:1606
HP:0001627	Abnormal heart morphology	2563	GABRD	ORPHA:1606
HP:0001627	Abnormal heart morphology	23013	SPEN	ORPHA:1606
HP:0001627	Abnormal heart morphology	8510	MMP23B	ORPHA:1606
HP:0001627	Abnormal heart morphology	7798	LUZP1	ORPHA:1606
HP:0001627	Abnormal heart morphology	6497	SKI	ORPHA:1606
HP:0001627	Abnormal heart morphology	10630	PDPN	ORPHA:1606
HP:0001627	Abnormal heart morphology	10277	UBE4B	ORPHA:1606
HP:0001627	Abnormal heart morphology	8514	KCNAB2	ORPHA:1606
HP:0001627	Abnormal heart morphology	63976	PRDM16	ORPHA:1606
HP:0001627	Abnormal heart morphology	54897	CASZ1	ORPHA:1606
HP:0001627	Abnormal heart morphology	3593	IL12B	ORPHA:3287
HP:0001627	Abnormal heart morphology	6945	MLX	ORPHA:3287
HP:0001627	Abnormal heart morphology	3425	IDUA	ORPHA:93473
HP:0001627	Abnormal heart morphology	3425	IDUA	ORPHA:93476
HP:0001627	Abnormal heart morphology	1776	DNASE1L3	ORPHA:36412
HP:0001627	Abnormal heart morphology	3081	HGD	ORPHA:56
HP:0001627	Abnormal heart morphology	5566	PRKACA	ORPHA:289
HP:0001627	Abnormal heart morphology	5567	PRKACB	ORPHA:289
HP:0001627	Abnormal heart morphology	2735	GLI1	ORPHA:289
HP:0001627	Abnormal heart morphology	2121	EVC	ORPHA:289
HP:0001627	Abnormal heart morphology	51626	DYNC2LI1	ORPHA:289
HP:0001627	Abnormal heart morphology	132884	EVC2	ORPHA:289
HP:0001627	Abnormal heart morphology	1281	COL3A1	ORPHA:286
HP:0001627	Abnormal heart morphology	10815	CPLX1	ORPHA:280
HP:0001627	Abnormal heart morphology	54872	PIGG	ORPHA:280
HP:0001627	Abnormal heart morphology	7469	NELFA	ORPHA:280
HP:0001627	Abnormal heart morphology	1487	CTBP1	ORPHA:280
HP:0001627	Abnormal heart morphology	3954	LETM1	ORPHA:280
HP:0001627	Abnormal heart morphology	7468	NSD2	ORPHA:280
HP:0001627	Abnormal heart morphology	1278	COL1A2	ORPHA:230851
HP:0001627	Abnormal heart morphology	11231	SEC63	ORPHA:2924
HP:0001627	Abnormal heart morphology	5589	PRKCSH	ORPHA:2924
HP:0001627	Abnormal heart morphology	4041	LRP5	ORPHA:2924
HP:0001627	Abnormal heart morphology	7528	YY1	ORPHA:506358
HP:0001627	Abnormal heart morphology	7528	YY1	OMIM:617557
HP:0001627	Abnormal heart morphology	54892	NCAPG2	OMIM:618460
HP:0001627	Abnormal heart morphology	9578	CDC42BPB	OMIM:619841
HP:0001627	Abnormal heart morphology	29998	BICRA	OMIM:619325
HP:0001627	Abnormal heart morphology	51506	UFC1	OMIM:618076
HP:0001627	Abnormal heart morphology	23291	FBXW11	OMIM:618914
HP:0001627	Abnormal heart morphology	4001	LMNB1	OMIM:619179
HP:0001627	Abnormal heart morphology	51434	ANAPC7	OMIM:619699
HP:0001627	Abnormal heart morphology	51008	ASCC1	OMIM:616867
HP:0001627	Abnormal heart morphology	23028	KDM1A	ORPHA:477993
HP:0001627	Abnormal heart morphology	1656	DDX6	OMIM:618653
HP:0001627	Abnormal heart morphology	1301	COL11A1	OMIM:228520
HP:0001627	Abnormal heart morphology	6772	STAT1	ORPHA:391487
HP:0001627	Abnormal heart morphology	1763	DNA2	OMIM:615156
HP:0001627	Abnormal heart morphology	91461	PKDCC	OMIM:618821
HP:0001627	Abnormal heart morphology	6789	STK4	OMIM:614868
HP:0001627	Abnormal heart morphology	10681	GNB5	OMIM:617182
HP:0001627	Abnormal heart morphology	10681	GNB5	ORPHA:542306
HP:0001627	Abnormal heart morphology	9739	SETD1A	OMIM:618832
HP:0001627	Abnormal heart morphology	100506658	OCLN	OMIM:251290
HP:0001627	Abnormal heart morphology	79971	WLS	OMIM:619648
HP:0001627	Abnormal heart morphology	89970	RSPRY1	ORPHA:457395
HP:0001627	Abnormal heart morphology	57479	PRR12	OMIM:619539
HP:0001627	Abnormal heart morphology	85459	CEP295	OMIM:620767
HP:0001627	Abnormal heart morphology	54101	RIPK4	OMIM:263650
HP:0001627	Abnormal heart morphology	6445	SGCG	ORPHA:353
HP:0001627	Abnormal heart morphology	6445	SGCG	OMIM:253700
HP:0001627	Abnormal heart morphology	79572	ATP13A3	OMIM:265400
HP:0001627	Abnormal heart morphology	21	ABCA3	ORPHA:217563
HP:0001627	Abnormal heart morphology	6439	SFTPB	ORPHA:217563
HP:0001627	Abnormal heart morphology	8604	SLC25A12	OMIM:612949
HP:0001627	Abnormal heart morphology	659	BMPR2	OMIM:178600
HP:0001627	Abnormal heart morphology	8292	COLQ	ORPHA:98915
HP:0001627	Abnormal heart morphology	3913	LAMB2	ORPHA:98915
HP:0001627	Abnormal heart morphology	54870	QRICH1	OMIM:617982
HP:0001627	Abnormal heart morphology	6448	SGSH	OMIM:252900
HP:0001627	Abnormal heart morphology	138050	HGSNAT	OMIM:252930
HP:0001627	Abnormal heart morphology	859	CAV3	OMIM:192600
HP:0001627	Abnormal heart morphology	85366	MYLK2	OMIM:192600
HP:0001627	Abnormal heart morphology	2799	GNS	OMIM:252940
HP:0001627	Abnormal heart morphology	3192	HNRNPU	ORPHA:238769
HP:0001627	Abnormal heart morphology	894	CCND2	ORPHA:83473
HP:0001627	Abnormal heart morphology	5296	PIK3R2	ORPHA:83473
HP:0001627	Abnormal heart morphology	10000	AKT3	ORPHA:83473
HP:0001627	Abnormal heart morphology	64840	PORCN	ORPHA:2092
HP:0001627	Abnormal heart morphology	23556	PIGN	ORPHA:2059
HP:0001627	Abnormal heart morphology	25885	POLR1A	ORPHA:1200
HP:0001627	Abnormal heart morphology	10907	TXNL4A	ORPHA:1200
HP:0001627	Abnormal heart morphology	4625	MYH7	ORPHA:1880
HP:0001627	Abnormal heart morphology	145173	B3GLCT	ORPHA:709
HP:0001627	Abnormal heart morphology	7473	WNT3	ORPHA:3301
HP:0001627	Abnormal heart morphology	340419	RSPO2	ORPHA:3301
HP:0001627	Abnormal heart morphology	9496	TBX4	ORPHA:3301
HP:0001627	Abnormal heart morphology	1654	DDX3X	ORPHA:3338
HP:0001627	Abnormal heart morphology	92002	CCNQ	ORPHA:140952
HP:0001627	Abnormal heart morphology	55784	MCTP2	ORPHA:1596
HP:0001627	Abnormal heart morphology	55690	PACS1	OMIM:615009
HP:0001627	Abnormal heart morphology	6299	SALL1	ORPHA:857
HP:0001627	Abnormal heart morphology	51339	DACT1	ORPHA:857
HP:0001627	Abnormal heart morphology	55636	CHD7	ORPHA:138
HP:0001627	Abnormal heart morphology	9723	SEMA3E	ORPHA:138
HP:0001627	Abnormal heart morphology	1482	NKX2-5	ORPHA:1479
HP:0001627	Abnormal heart morphology	6023	RMRP	ORPHA:175
HP:0001627	Abnormal heart morphology	50814	NSDHL	OMIM:308050
HP:0001627	Abnormal heart morphology	54880	BCOR	ORPHA:2712
HP:0001627	Abnormal heart morphology	9939	RBM8A	ORPHA:3320
HP:0001627	Abnormal heart morphology	672	BRCA1	ORPHA:84
HP:0001627	Abnormal heart morphology	10459	MAD2L2	ORPHA:84
HP:0001627	Abnormal heart morphology	7516	XRCC2	ORPHA:84
HP:0001627	Abnormal heart morphology	29089	UBE2T	ORPHA:84
HP:0001627	Abnormal heart morphology	675	BRCA2	ORPHA:84
HP:0001627	Abnormal heart morphology	55120	FANCL	ORPHA:84
HP:0001627	Abnormal heart morphology	2187	FANCB	ORPHA:84
HP:0001627	Abnormal heart morphology	2176	FANCC	ORPHA:84
HP:0001627	Abnormal heart morphology	2188	FANCF	ORPHA:84
HP:0001627	Abnormal heart morphology	2189	FANCG	ORPHA:84
HP:0001627	Abnormal heart morphology	5888	RAD51	ORPHA:84
HP:0001627	Abnormal heart morphology	55159	RFWD3	ORPHA:84
HP:0001627	Abnormal heart morphology	83990	BRIP1	ORPHA:84
HP:0001627	Abnormal heart morphology	57697	FANCM	ORPHA:84
HP:0001627	Abnormal heart morphology	79728	PALB2	ORPHA:84
HP:0001627	Abnormal heart morphology	84464	SLX4	ORPHA:84
HP:0001627	Abnormal heart morphology	2072	ERCC4	ORPHA:84
HP:0001627	Abnormal heart morphology	55215	FANCI	ORPHA:84
HP:0001627	Abnormal heart morphology	118856	MMP21	OMIM:616749
HP:0001627	Abnormal heart morphology	7080	NKX2-1	ORPHA:209905
HP:0001627	Abnormal heart morphology	54539	NDUFB11	ORPHA:2556
HP:0001627	Abnormal heart morphology	1349	COX7B	ORPHA:2556
HP:0001627	Abnormal heart morphology	3052	HCCS	ORPHA:2556
HP:0001627	Abnormal heart morphology	3239	HOXD13	ORPHA:887
HP:0001627	Abnormal heart morphology	197131	UBR1	ORPHA:2315
HP:0001627	Abnormal heart morphology	2626	GATA4	ORPHA:251071
HP:0001627	Abnormal heart morphology	1760	DMPK	ORPHA:589821
HP:0001627	Abnormal heart morphology	4352	MPL	ORPHA:3319
HP:0001627	Abnormal heart morphology	7066	THPO	ORPHA:3319
HP:0001627	Abnormal heart morphology	389827	MYMK	OMIM:254940
HP:0001627	Abnormal heart morphology	27152	INTU	OMIM:617925
HP:0001627	Abnormal heart morphology	9759	HDAC4	OMIM:600430
HP:0001627	Abnormal heart morphology	127833	SYT2	OMIM:619461
HP:0001627	Abnormal heart morphology	8294	H4C9	OMIM:619951
HP:0001627	Abnormal heart morphology	29081	METTL5	OMIM:618665
HP:0001627	Abnormal heart morphology	132	ADK	OMIM:614300
HP:0001627	Abnormal heart morphology	490	ATP2B1	OMIM:619910
HP:0001627	Abnormal heart morphology	8364	H4C3	OMIM:619758
HP:0001627	Abnormal heart morphology	256297	PTF1A	OMIM:609069
HP:0001627	Abnormal heart morphology	79759	ZNF668	OMIM:620194
HP:0001627	Abnormal heart morphology	80055	PGAP1	OMIM:615802
HP:0001627	Abnormal heart morphology	471	ATIC	OMIM:608688
HP:0001627	Abnormal heart morphology	3417	IDH1	ORPHA:99646
HP:0001627	Abnormal heart morphology	11274	USP18	OMIM:617397
HP:0001627	Abnormal heart morphology	10079	ATP9A	OMIM:620242
HP:0001627	Abnormal heart morphology	1974	EIF4A2	OMIM:620455
HP:0001627	Abnormal heart morphology	5054	SERPINE1	ORPHA:465
HP:0001627	Abnormal heart morphology	7840	ALMS1	ORPHA:64
HP:0001627	Abnormal heart morphology	27068	PPA2	OMIM:617223
HP:0001627	Abnormal heart morphology	27068	PPA2	OMIM:617222
HP:0001627	Abnormal heart morphology	10848	PPP1R13L	OMIM:620519
HP:0001627	Abnormal heart morphology	57158	JPH2	OMIM:613873
HP:0001627	Abnormal heart morphology	2218	FKTN	OMIM:253800
HP:0001627	Abnormal heart morphology	79600	TCTN1	ORPHA:475
HP:0001627	Abnormal heart morphology	79600	TCTN1	ORPHA:564
HP:0001627	Abnormal heart morphology	79848	CSPP1	ORPHA:475
HP:0001627	Abnormal heart morphology	79848	CSPP1	ORPHA:564
HP:0001627	Abnormal heart morphology	51684	SUFU	ORPHA:475
HP:0001627	Abnormal heart morphology	91147	TMEM67	ORPHA:475
HP:0001627	Abnormal heart morphology	91147	TMEM67	ORPHA:564
HP:0001627	Abnormal heart morphology	200894	ARL13B	ORPHA:475
HP:0001627	Abnormal heart morphology	9731	CEP104	ORPHA:475
HP:0001627	Abnormal heart morphology	219844	HYLS1	ORPHA:475
HP:0001627	Abnormal heart morphology	23247	KATNIP	ORPHA:475
HP:0001627	Abnormal heart morphology	80776	B9D2	ORPHA:475
HP:0001627	Abnormal heart morphology	80776	B9D2	ORPHA:564
HP:0001627	Abnormal heart morphology	10464	PIBF1	ORPHA:475
HP:0001627	Abnormal heart morphology	80210	ARMC9	ORPHA:475
HP:0001627	Abnormal heart morphology	23116	TOGARAM1	ORPHA:475
HP:0001627	Abnormal heart morphology	25776	CBY1	ORPHA:475
HP:0001627	Abnormal heart morphology	27077	B9D1	ORPHA:475
HP:0001627	Abnormal heart morphology	27077	B9D1	ORPHA:564
HP:0001627	Abnormal heart morphology	403	ARL3	ORPHA:475
HP:0001627	Abnormal heart morphology	65062	TMEM237	ORPHA:475
HP:0001627	Abnormal heart morphology	65062	TMEM237	ORPHA:564
HP:0001627	Abnormal heart morphology	5396	PRRX1	ORPHA:990
HP:0001627	Abnormal heart morphology	5396	PRRX1	OMIM:202650
HP:0001627	Abnormal heart morphology	5015	OTX2	ORPHA:990
HP:0001627	Abnormal heart morphology	23568	ARL2BP	OMIM:615434
HP:0001627	Abnormal heart morphology	4487	MSX1	ORPHA:199302
HP:0001627	Abnormal heart morphology	5818	NECTIN1	ORPHA:199302
HP:0001627	Abnormal heart morphology	8626	TP63	ORPHA:199302
HP:0001627	Abnormal heart morphology	3664	IRF6	ORPHA:199302
HP:0001627	Abnormal heart morphology	54014	BRWD1	OMIM:620438
HP:0001627	Abnormal heart morphology	25790	CFAP45	OMIM:619608
HP:0001627	Abnormal heart morphology	10126	DNAL4	OMIM:616059
HP:0001627	Abnormal heart morphology	25914	RTTN	OMIM:614833
HP:0001627	Abnormal heart morphology	23090	ZNF423	OMIM:614844
HP:0001627	Abnormal heart morphology	284086	NEK8	OMIM:615415
HP:0001627	Abnormal heart morphology	84314	TMEM107	ORPHA:564
HP:0001627	Abnormal heart morphology	57096	RPGRIP1	ORPHA:564
HP:0001627	Abnormal heart morphology	57545	CC2D2A	ORPHA:564
HP:0001627	Abnormal heart morphology	23322	RPGRIP1L	ORPHA:564
HP:0001627	Abnormal heart morphology	203286	ANKS6	OMIM:615382
HP:0001627	Abnormal heart morphology	27130	INVS	OMIM:602088
HP:0001627	Abnormal heart morphology	83483	PLVAP	OMIM:618183
HP:0001627	Abnormal heart morphology	55388	MCM10	OMIM:619313
HP:0001627	Abnormal heart morphology	3702	ITK	OMIM:613011
HP:0001627	Abnormal heart morphology	9508	ADAMTS3	ORPHA:2136
HP:0001627	Abnormal heart morphology	147372	CCBE1	ORPHA:2136
HP:0001627	Abnormal heart morphology	147372	CCBE1	OMIM:235510
HP:0001627	Abnormal heart morphology	5784	PTPN14	OMIM:613611
HP:0001627	Abnormal heart morphology	6696	SPP1	ORPHA:93552
HP:0001627	Abnormal heart morphology	6303	SAT1	ORPHA:93552
HP:0001627	Abnormal heart morphology	3654	IRAK1	ORPHA:93552
HP:0001627	Abnormal heart morphology	51611	DPH5	OMIM:620070
HP:0001627	Abnormal heart morphology	4094	MAF	ORPHA:1272
HP:0001627	Abnormal heart morphology	84162	BLTP1	OMIM:617822
HP:0001627	Abnormal heart morphology	745	MYRF	OMIM:618280
HP:0001627	Abnormal heart morphology	3123	HLA-DRB1	OMIM:181000
HP:0001627	Abnormal heart morphology	1130	LYST	ORPHA:167
HP:0001627	Abnormal heart morphology	440275	EIF2AK4	ORPHA:199241
HP:0001627	Abnormal heart morphology	10203	CALCRL	OMIM:618773
HP:0001627	Abnormal heart morphology	7386	UQCRFS1	OMIM:618775
HP:0001627	Abnormal heart morphology	64072	CDH23	ORPHA:91347
HP:0001627	Abnormal heart morphology	79867	TCTN2	OMIM:613885
HP:0001627	Abnormal heart morphology	165	AEBP1	ORPHA:536532
HP:0001627	Abnormal heart morphology	1188	CLCNKB	ORPHA:358
HP:0001627	Abnormal heart morphology	6559	SLC12A3	ORPHA:358
HP:0001627	Abnormal heart morphology	6729	SRP54	OMIM:260400
HP:0001627	Abnormal heart morphology	26191	PTPN22	ORPHA:397
HP:0001627	Abnormal heart morphology	26191	PTPN22	ORPHA:900
HP:0001627	Abnormal heart morphology	26191	PTPN22	OMIM:152700
HP:0001627	Abnormal heart morphology	8974	P4HA2	ORPHA:397
HP:0001627	Abnormal heart morphology	144811	LACC1	ORPHA:85414
HP:0001627	Abnormal heart morphology	4282	MIF	ORPHA:85414
HP:0001627	Abnormal heart morphology	3569	IL6	ORPHA:85414
HP:0001627	Abnormal heart morphology	3932	LCK	OMIM:615758
HP:0001627	Abnormal heart morphology	1493	CTLA4	ORPHA:900
HP:0001627	Abnormal heart morphology	1493	CTLA4	OMIM:152700
HP:0001627	Abnormal heart morphology	3115	HLA-DPB1	ORPHA:900
HP:0001627	Abnormal heart morphology	5657	PRTN3	ORPHA:900
HP:0001627	Abnormal heart morphology	3113	HLA-DPA1	ORPHA:900
HP:0001627	Abnormal heart morphology	10216	PRG4	ORPHA:2848
HP:0001627	Abnormal heart morphology	139818	DOCK11	OMIM:301109
HP:0001627	Abnormal heart morphology	64127	NOD2	ORPHA:90340
HP:0001627	Abnormal heart morphology	64127	NOD2	OMIM:186580
HP:0001627	Abnormal heart morphology	64127	NOD2	OMIM:617321
HP:0001627	Abnormal heart morphology	2212	FCGR2A	OMIM:152700
HP:0001627	Abnormal heart morphology	2213	FCGR2B	OMIM:152700
HP:0001627	Abnormal heart morphology	1773	DNASE1	OMIM:152700
HP:0001627	Abnormal heart morphology	3039	HBA1	ORPHA:163596
HP:0001627	Abnormal heart morphology	3040	HBA2	ORPHA:163596
HP:0001627	Abnormal heart morphology	6901	TAFAZZIN	ORPHA:111
HP:0001627	Abnormal heart morphology	6901	TAFAZZIN	OMIM:302060
HP:0001627	Abnormal heart morphology	2702	GJA5	OMIM:108770
HP:0001627	Abnormal heart morphology	8048	CSRP3	OMIM:607482
HP:0001627	Abnormal heart morphology	9158	FIBP	ORPHA:500095
HP:0001627	Abnormal heart morphology	19	ABCA1	OMIM:205400
HP:0001627	Abnormal heart morphology	19	ABCA1	ORPHA:31150
HP:0001627	Abnormal heart morphology	51343	FZR1	OMIM:620145
HP:0001627	Abnormal heart morphology	10159	ATP6AP2	ORPHA:93952
HP:0001627	Abnormal heart morphology	6840	SVIL	OMIM:619040
HP:0001627	Abnormal heart morphology	10021	HCN4	OMIM:163800
HP:0001627	Abnormal heart morphology	51218	GLRX5	ORPHA:401866
HP:0001627	Abnormal heart morphology	83715	ESPN	OMIM:618632
HP:0001627	Abnormal heart morphology	10229	COQ7	OMIM:616733
HP:0001627	Abnormal heart morphology	54931	TRMT10C	OMIM:616974
HP:0001627	Abnormal heart morphology	6868	ADAM17	ORPHA:294023
HP:0001627	Abnormal heart morphology	1956	EGFR	ORPHA:294023
HP:0001627	Abnormal heart morphology	4511	MT-TC	OMIM:540000
HP:0001627	Abnormal heart morphology	153642	ARSK	OMIM:619698
HP:0001627	Abnormal heart morphology	79140	CCDC28B	OMIM:209900
HP:0001627	Abnormal heart morphology	3291	HSD11B2	ORPHA:320
HP:0001627	Abnormal heart morphology	27010	TPK1	OMIM:614458
HP:0001627	Abnormal heart morphology	51241	COX16	OMIM:619355
HP:0001627	Abnormal heart morphology	57017	COQ9	OMIM:614654
HP:0001627	Abnormal heart morphology	57592	ZNF687	OMIM:616833
HP:0001627	Abnormal heart morphology	6444	SGCD	OMIM:601287
HP:0001627	Abnormal heart morphology	286053	NSMCE2	OMIM:617253
HP:0001627	Abnormal heart morphology	6341	SCO1	OMIM:619048
HP:0001627	Abnormal heart morphology	776	CACNA1D	ORPHA:369929
HP:0001627	Abnormal heart morphology	83550	GPR101	OMIM:300942
HP:0001627	Abnormal heart morphology	5908	RAP1B	OMIM:620654
HP:0001627	Abnormal heart morphology	526	ATP6V1B2	ORPHA:79500
HP:0001627	Abnormal heart morphology	55593	OTUD5	OMIM:301056
HP:0001627	Abnormal heart morphology	9487	PIGL	OMIM:280000
HP:0001627	Abnormal heart morphology	7319	UBE2A	ORPHA:163956
HP:0001627	Abnormal heart morphology	64131	XYLT1	OMIM:264800
HP:0001627	Abnormal heart morphology	1062	CENPE	OMIM:616051
HP:0001627	Abnormal heart morphology	2038	EPB42	ORPHA:822
HP:0001627	Abnormal heart morphology	6521	SLC4A1	ORPHA:822
HP:0001627	Abnormal heart morphology	6710	SPTB	ORPHA:822
HP:0001627	Abnormal heart morphology	6708	SPTA1	ORPHA:822
HP:0001627	Abnormal heart morphology	2657	GDF1	OMIM:208530
HP:0001627	Abnormal heart morphology	2657	GDF1	OMIM:613854
HP:0001627	Abnormal heart morphology	100128908	CIROP	OMIM:619702
HP:0001627	Abnormal heart morphology	79770	TXNDC15	OMIM:619879
HP:0001627	Abnormal heart morphology	64220	STRA6	OMIM:601186
HP:0001627	Abnormal heart morphology	1134	CHRNA1	OMIM:253290
HP:0001627	Abnormal heart morphology	1146	CHRNG	OMIM:253290
HP:0001627	Abnormal heart morphology	1144	CHRND	OMIM:253290
HP:0001627	Abnormal heart morphology	84818	IL17RC	ORPHA:1334
HP:0001627	Abnormal heart morphology	64581	CLEC7A	ORPHA:1334
HP:0001627	Abnormal heart morphology	23765	IL17RA	ORPHA:1334
HP:0001627	Abnormal heart morphology	10758	TRAF3IP2	ORPHA:1334
HP:0001627	Abnormal heart morphology	112744	IL17F	ORPHA:1334
HP:0001627	Abnormal heart morphology	5781	PTPN11	ORPHA:500
HP:0001627	Abnormal heart morphology	5894	RAF1	ORPHA:500
HP:0001627	Abnormal heart morphology	63895	PIEZO2	ORPHA:2461
HP:0001627	Abnormal heart morphology	23586	RIGI	OMIM:616298
HP:0001627	Abnormal heart morphology	10568	SLC34A2	ORPHA:60025
HP:0001627	Abnormal heart morphology	10651	MTX2	OMIM:619127
HP:0001627	Abnormal heart morphology	7490	WT1	OMIM:608978
HP:0001627	Abnormal heart morphology	7490	WT1	ORPHA:3097
HP:0001627	Abnormal heart morphology	2464	FRA16E	OMIM:136570
HP:0001627	Abnormal heart morphology	1024	CDK8	OMIM:618748
HP:0001627	Abnormal heart morphology	9681	DEPDC5	OMIM:620504
HP:0001627	Abnormal heart morphology	8405	SPOP	OMIM:618829
HP:0001627	Abnormal heart morphology	1837	DTNA	OMIM:604169
HP:0001627	Abnormal heart morphology	23498	HAAO	OMIM:617660
HP:0001627	Abnormal heart morphology	3021	H3-3B	OMIM:619721
HP:0001627	Abnormal heart morphology	219854	TMEM218	OMIM:619562
HP:0001627	Abnormal heart morphology	8942	KYNU	OMIM:617661
HP:0001627	Abnormal heart morphology	2697	GJA1	ORPHA:2248
HP:0001627	Abnormal heart morphology	140628	GATA5	ORPHA:402075
HP:0001627	Abnormal heart morphology	4091	SMAD6	ORPHA:402075
HP:0001627	Abnormal heart morphology	84231	TRAF7	OMIM:618164
HP:0001627	Abnormal heart morphology	55191	NADSYN1	OMIM:618845
HP:0001627	Abnormal heart morphology	51117	COQ4	OMIM:616276
HP:0001627	Abnormal heart morphology	168507	PKD1L1	OMIM:617205
HP:0001627	Abnormal heart morphology	220136	CFAP53	OMIM:614779
HP:0001627	Abnormal heart morphology	2783	GNB2	OMIM:619503
HP:0001627	Abnormal heart morphology	2313	FLI1	ORPHA:2308
HP:0001627	Abnormal heart morphology	164781	DAW1	OMIM:620570
HP:0001627	Abnormal heart morphology	60684	TRAPPC11	ORPHA:369840
HP:0001627	Abnormal heart morphology	60684	TRAPPC11	ORPHA:369847
HP:0001627	Abnormal heart morphology	29119	CTNNA3	OMIM:615616
HP:0001627	Abnormal heart morphology	2324	FLT4	OMIM:618780
HP:0001627	Abnormal heart morphology	221496	LEMD2	OMIM:619322
HP:0001627	Abnormal heart morphology	1201	CLN3	OMIM:204200
HP:0001627	Abnormal heart morphology	10524	KAT5	OMIM:619103
HP:0001627	Abnormal heart morphology	171019	ADAMTS19	OMIM:620067
HP:0001627	Abnormal heart morphology	3431	SP110	OMIM:235550
HP:0001627	Abnormal heart morphology	5156	PDGFRA	OMIM:607685
HP:0001627	Abnormal heart morphology	4634	MYL3	OMIM:608751
HP:0001627	Abnormal heart morphology	3949	LDLR	ORPHA:391665
HP:0001627	Abnormal heart morphology	255738	PCSK9	ORPHA:391665
HP:0001627	Abnormal heart morphology	26119	LDLRAP1	ORPHA:391665
HP:0001627	Abnormal heart morphology	338	APOB	ORPHA:391665
HP:0001627	Abnormal heart morphology	64240	ABCG5	ORPHA:391665
HP:0001627	Abnormal heart morphology	64241	ABCG8	ORPHA:391665
HP:0001627	Abnormal heart morphology	9361	LONP1	OMIM:600373
HP:0001627	Abnormal heart morphology	2294	FOXF1	OMIM:265380
HP:0001627	Abnormal heart morphology	2294	FOXF1	ORPHA:210122
HP:0001627	Abnormal heart morphology	6910	TBX5	ORPHA:392
HP:0001627	Abnormal heart morphology	11198	SUPT16H	OMIM:619480
HP:0001627	Abnormal heart morphology	2627	GATA6	OMIM:614474
HP:0001627	Abnormal heart morphology	90416	CCDC32	OMIM:619123
HP:0001627	Abnormal heart morphology	1717	DHCR7	ORPHA:818
HP:0001627	Abnormal heart morphology	55997	CFC1	OMIM:605376
HP:0001627	Abnormal heart morphology	57020	VPS35L	OMIM:619135
HP:0001627	Abnormal heart morphology	57020	VPS35L	ORPHA:7
HP:0001627	Abnormal heart morphology	79989	IFT56	OMIM:619534
HP:0001627	Abnormal heart morphology	50619	DEF6	OMIM:619573
HP:0001627	Abnormal heart morphology	83871	RAB34	OMIM:620718
HP:0001627	Abnormal heart morphology	93	ACVR2B	OMIM:613751
HP:0001627	Abnormal heart morphology	7026	NR2F2	OMIM:615779
HP:0001627	Abnormal heart morphology	23476	BRD4	OMIM:620568
HP:0001627	Abnormal heart morphology	23522	KAT6B	ORPHA:3047
HP:0001627	Abnormal heart morphology	4750	NEK1	ORPHA:2751
HP:0001627	Abnormal heart morphology	1000	CDH2	OMIM:618929
HP:0001627	Abnormal heart morphology	9897	WASHC5	ORPHA:7
HP:0001627	Abnormal heart morphology	28952	CCDC22	ORPHA:7
HP:0001627	Abnormal heart morphology	56896	DPYSL5	ORPHA:7
HP:0001627	Abnormal heart morphology	5587	PRKD1	OMIM:617364
HP:0001627	Abnormal heart morphology	11193	WBP4	OMIM:620852
HP:0001627	Abnormal heart morphology	5318	PKP2	OMIM:609040
HP:0001627	Abnormal heart morphology	10516	FBLN5	ORPHA:90348
HP:0001627	Abnormal heart morphology	10516	FBLN5	ORPHA:90349
HP:0001627	Abnormal heart morphology	5832	ALDH18A1	ORPHA:90348
HP:0001627	Abnormal heart morphology	4052	LTBP1	ORPHA:90349
HP:0001627	Abnormal heart morphology	30008	EFEMP2	ORPHA:90349
HP:0001627	Abnormal heart morphology	54820	NDE1	ORPHA:2177
HP:0001627	Abnormal heart morphology	6134	RPL10	ORPHA:459070
HP:0001627	Abnormal heart morphology	3458	IFNG	OMIM:613254
HP:0001627	Abnormal heart morphology	3458	IFNG	ORPHA:805
HP:0001627	Abnormal heart morphology	7249	TSC2	OMIM:613254
HP:0001627	Abnormal heart morphology	7249	TSC2	ORPHA:805
HP:0001627	Abnormal heart morphology	7248	TSC1	ORPHA:805
HP:0001627	Abnormal heart morphology	7248	TSC1	OMIM:191100
HP:0001627	Abnormal heart morphology	55553	SOX6	OMIM:618971
HP:0001627	Abnormal heart morphology	158326	FREM1	OMIM:608980
HP:0001627	Abnormal heart morphology	8643	PTCH2	ORPHA:377
HP:0001627	Abnormal heart morphology	92579	G6PC3	OMIM:612541
HP:0001627	Abnormal heart morphology	1857	DVL3	OMIM:616894
HP:0001627	Abnormal heart morphology	348180	CTU2	OMIM:618142
HP:0001627	Abnormal heart morphology	2653	GCSH	OMIM:620423
HP:0001627	Abnormal heart morphology	10847	SRCAP	ORPHA:2044
HP:0001627	Abnormal heart morphology	10847	SRCAP	OMIM:136140
HP:0001627	Abnormal heart morphology	7543	ZFX	OMIM:301118
HP:0001627	Abnormal heart morphology	5700	PSMC1	OMIM:620071
HP:0001627	Abnormal heart morphology	23511	NUP188	OMIM:618804
HP:0001627	Abnormal heart morphology	51729	WBP11	OMIM:619227
HP:0001627	Abnormal heart morphology	374969	SVBP	OMIM:618569
HP:0001627	Abnormal heart morphology	1828	DSG1	OMIM:615508
HP:0001627	Abnormal heart morphology	1824	DSC2	OMIM:610476
HP:0001627	Abnormal heart morphology	57534	MIB1	OMIM:615092
HP:0001627	Abnormal heart morphology	135	ADORA2A	ORPHA:363549
HP:0001627	Abnormal heart morphology	284252	KCTD1	OMIM:181270
HP:0001627	Abnormal heart morphology	4626	MYH8	OMIM:608837
HP:0001627	Abnormal heart morphology	50940	PDE11A	ORPHA:1359
HP:0001627	Abnormal heart morphology	2271	FH	OMIM:606812
HP:0001627	Abnormal heart morphology	808	CALM3	OMIM:618782
HP:0001627	Abnormal heart morphology	22872	SEC31A	OMIM:618651
HP:0001627	Abnormal heart morphology	79053	ALG8	OMIM:608104
HP:0001627	Abnormal heart morphology	1593	CYP27A1	ORPHA:909
HP:0001627	Abnormal heart morphology	1855	DVL1	OMIM:616331
HP:0001627	Abnormal heart morphology	23545	ATP6V0A2	ORPHA:2834
HP:0001627	Abnormal heart morphology	23545	ATP6V0A2	OMIM:278250
HP:0001627	Abnormal heart morphology	9382	COG1	ORPHA:263508
HP:0001627	Abnormal heart morphology	114803	MYSM1	ORPHA:508542
HP:0001627	Abnormal heart morphology	1660	DHX9	OMIM:620988
HP:0001627	Abnormal heart morphology	2879	GPX4	ORPHA:93317
HP:0001627	Abnormal heart morphology	2879	GPX4	OMIM:250220
HP:0001627	Abnormal heart morphology	801	CALM1	OMIM:616247
HP:0001627	Abnormal heart morphology	3662	IRF4	ORPHA:3452
HP:0001627	Abnormal heart morphology	805	CALM2	OMIM:616249
HP:0001627	Abnormal heart morphology	10551	AGR2	OMIM:620233
HP:0001627	Abnormal heart morphology	567	B2M	OMIM:620659
HP:0001627	Abnormal heart morphology	567	B2M	ORPHA:314652
HP:0001627	Abnormal heart morphology	6288	SAA1	ORPHA:85445
HP:0001627	Abnormal heart morphology	151648	SGO1	OMIM:616201
HP:0001627	Abnormal heart morphology	9631	NUP155	OMIM:615770
HP:0001627	Abnormal heart morphology	8815	BANF1	OMIM:614008
HP:0001627	Abnormal heart morphology	10699	CORIN	OMIM:620734
HP:0001627	Abnormal heart morphology	7138	TNNT1	OMIM:620386
HP:0001627	Abnormal heart morphology	442721	LMOD2	OMIM:619897
HP:0001627	Abnormal heart morphology	7414	VCL	OMIM:613255
HP:0001627	Abnormal heart morphology	7137	TNNI3	OMIM:611880
HP:0001627	Abnormal heart morphology	70	ACTC1	OMIM:613424
HP:0001627	Abnormal heart morphology	22845	DOLK	ORPHA:91131
HP:0001627	Abnormal heart morphology	493753	COA5	OMIM:616500
HP:0001627	Abnormal heart morphology	779	CACNA1S	ORPHA:423
HP:0001627	Abnormal heart morphology	57104	PNPLA2	ORPHA:565612
HP:0001627	Abnormal heart morphology	7139	TNNT2	OMIM:612422
HP:0001627	Abnormal heart morphology	546	ATRX	ORPHA:100075
HP:0001627	Abnormal heart morphology	7148	TNXB	OMIM:606408
HP:0001627	Abnormal heart morphology	6123	RPL3L	OMIM:619371
HP:0001627	Abnormal heart morphology	54800	KLHL24	OMIM:620236
HP:0001627	Abnormal heart morphology	29123	ANKRD11	ORPHA:2332
HP:0001627	Abnormal heart morphology	11128	POLR3A	ORPHA:3455
HP:0001627	Abnormal heart morphology	72	ACTG2	ORPHA:2241
HP:0001627	Abnormal heart morphology	64218	SEMA4A	ORPHA:440437
HP:0001627	Abnormal heart morphology	472	ATM	ORPHA:440437
HP:0001627	Abnormal heart morphology	5426	POLE	ORPHA:440437
HP:0001627	Abnormal heart morphology	4595	MUTYH	ORPHA:440437
HP:0001627	Abnormal heart morphology	5424	POLD1	ORPHA:440437
HP:0001627	Abnormal heart morphology	11200	CHEK2	ORPHA:440437
HP:0001627	Abnormal heart morphology	4072	EPCAM	ORPHA:144
HP:0001627	Abnormal heart morphology	4292	MLH1	ORPHA:144
HP:0001627	Abnormal heart morphology	5395	PMS2	ORPHA:144
HP:0001627	Abnormal heart morphology	5290	PIK3CA	ORPHA:144
HP:0001627	Abnormal heart morphology	2956	MSH6	ORPHA:144
HP:0001627	Abnormal heart morphology	5378	PMS1	ORPHA:144
HP:0001627	Abnormal heart morphology	4436	MSH2	ORPHA:144
HP:0001627	Abnormal heart morphology	79087	ALG12	ORPHA:79324
HP:0001627	Abnormal heart morphology	80206	FHOD3	OMIM:619402
HP:0010438	Abnormal ventricular septum morphology	8036	SHOC2	OMIM:607721
HP:0010438	Abnormal ventricular septum morphology	10617	STAMBP	OMIM:614261
HP:0010438	Abnormal ventricular septum morphology	6910	TBX5	ORPHA:392
HP:0010438	Abnormal ventricular septum morphology	6910	TBX5	OMIM:142900
HP:0010438	Abnormal ventricular septum morphology	28981	IFT81	OMIM:617895
HP:0010438	Abnormal ventricular septum morphology	8216	LZTR1	OMIM:616564
HP:0010438	Abnormal ventricular septum morphology	8216	LZTR1	OMIM:605275
HP:0010438	Abnormal ventricular septum morphology	776	CACNA1D	OMIM:615474
HP:0010438	Abnormal ventricular septum morphology	776	CACNA1D	ORPHA:369929
HP:0010438	Abnormal ventricular septum morphology	91754	NEK9	OMIM:614262
HP:0010438	Abnormal ventricular septum morphology	91754	NEK9	OMIM:617022
HP:0010438	Abnormal ventricular septum morphology	4750	NEK1	OMIM:263520
HP:0010438	Abnormal ventricular septum morphology	2132	EXT2	OMIM:616682
HP:0010438	Abnormal ventricular septum morphology	1024	CDK8	OMIM:618748
HP:0010438	Abnormal ventricular septum morphology	6659	SOX4	OMIM:618506
HP:0010438	Abnormal ventricular septum morphology	6659	SOX4	ORPHA:1465
HP:0010438	Abnormal ventricular septum morphology	6016	RIT1	OMIM:615355
HP:0010438	Abnormal ventricular septum morphology	51126	NAA20	OMIM:619717
HP:0010438	Abnormal ventricular septum morphology	2972	BRF1	OMIM:616202
HP:0010438	Abnormal ventricular septum morphology	2972	BRF1	ORPHA:444072
HP:0010438	Abnormal ventricular septum morphology	9231	DLG5	OMIM:620703
HP:0010438	Abnormal ventricular septum morphology	81857	MED25	OMIM:616449
HP:0010438	Abnormal ventricular septum morphology	81857	MED25	ORPHA:464738
HP:0010438	Abnormal ventricular septum morphology	22800	RRAS2	OMIM:618624
HP:0010438	Abnormal ventricular septum morphology	5927	KDM5A	OMIM:620820
HP:0010438	Abnormal ventricular septum morphology	91801	ALKBH8	OMIM:618504
HP:0010438	Abnormal ventricular septum morphology	1131	CHRM3	ORPHA:2970
HP:0010438	Abnormal ventricular septum morphology	64220	STRA6	OMIM:601186
HP:0010438	Abnormal ventricular septum morphology	55209	SETD5	ORPHA:404440
HP:0010438	Abnormal ventricular septum morphology	3190	HNRNPK	ORPHA:453504
HP:0010438	Abnormal ventricular septum morphology	3190	HNRNPK	ORPHA:352665
HP:0010438	Abnormal ventricular septum morphology	10743	RAI1	ORPHA:477817
HP:0010438	Abnormal ventricular septum morphology	197131	UBR1	OMIM:243800
HP:0010438	Abnormal ventricular septum morphology	1855	DVL1	OMIM:616331
HP:0010438	Abnormal ventricular septum morphology	55790	CSGALNACT1	OMIM:618870
HP:0010438	Abnormal ventricular septum morphology	55790	CSGALNACT1	ORPHA:1425
HP:0010438	Abnormal ventricular septum morphology	79639	TMEM53	OMIM:619727
HP:0010438	Abnormal ventricular septum morphology	2201	FBN2	OMIM:121050
HP:0010438	Abnormal ventricular septum morphology	23384	SPECC1L	ORPHA:1519
HP:0010438	Abnormal ventricular septum morphology	23384	SPECC1L	OMIM:145420
HP:0010438	Abnormal ventricular septum morphology	7086	TKT	ORPHA:488618
HP:0010438	Abnormal ventricular septum morphology	7086	TKT	OMIM:617044
HP:0010438	Abnormal ventricular septum morphology	5189	PEX1	OMIM:214100
HP:0010438	Abnormal ventricular septum morphology	5189	PEX1	ORPHA:912
HP:0010438	Abnormal ventricular septum morphology	2626	GATA4	OMIM:607941
HP:0010438	Abnormal ventricular septum morphology	2626	GATA4	OMIM:614429
HP:0010438	Abnormal ventricular septum morphology	284058	KANSL1	ORPHA:363958
HP:0010438	Abnormal ventricular septum morphology	284058	KANSL1	OMIM:610443
HP:0010438	Abnormal ventricular septum morphology	284058	KANSL1	ORPHA:363965
HP:0010438	Abnormal ventricular septum morphology	25885	POLR1A	OMIM:616462
HP:0010438	Abnormal ventricular septum morphology	83871	RAB34	OMIM:620718
HP:0010438	Abnormal ventricular septum morphology	9469	CHST3	OMIM:143095
HP:0010438	Abnormal ventricular septum morphology	7021	TFAP2B	ORPHA:46627
HP:0010438	Abnormal ventricular septum morphology	54567	DLL4	OMIM:616589
HP:0010438	Abnormal ventricular septum morphology	815	CAMK2A	OMIM:617798
HP:0010438	Abnormal ventricular septum morphology	4853	NOTCH2	OMIM:102500
HP:0010438	Abnormal ventricular septum morphology	4853	NOTCH2	ORPHA:955
HP:0010438	Abnormal ventricular septum morphology	7994	KAT6A	ORPHA:457193
HP:0010438	Abnormal ventricular septum morphology	7994	KAT6A	OMIM:616268
HP:0010438	Abnormal ventricular septum morphology	64359	NXN	ORPHA:1507
HP:0010438	Abnormal ventricular septum morphology	4920	ROR2	ORPHA:1507
HP:0010438	Abnormal ventricular septum morphology	4920	ROR2	OMIM:113000
HP:0010438	Abnormal ventricular septum morphology	2697	GJA1	ORPHA:2710
HP:0010438	Abnormal ventricular septum morphology	4313	MMP2	ORPHA:371428
HP:0010438	Abnormal ventricular septum morphology	4323	MMP14	ORPHA:371428
HP:0010438	Abnormal ventricular septum morphology	5566	PRKACA	ORPHA:289
HP:0010438	Abnormal ventricular septum morphology	5567	PRKACB	ORPHA:289
HP:0010438	Abnormal ventricular septum morphology	2735	GLI1	ORPHA:289
HP:0010438	Abnormal ventricular septum morphology	2121	EVC	ORPHA:289
HP:0010438	Abnormal ventricular septum morphology	51626	DYNC2LI1	ORPHA:289
HP:0010438	Abnormal ventricular septum morphology	132884	EVC2	ORPHA:289
HP:0010438	Abnormal ventricular septum morphology	6926	TBX3	OMIM:181450
HP:0010438	Abnormal ventricular septum morphology	6926	TBX3	ORPHA:3138
HP:0010438	Abnormal ventricular septum morphology	4763	NF1	ORPHA:363700
HP:0010438	Abnormal ventricular septum morphology	4763	NF1	OMIM:162200
HP:0010438	Abnormal ventricular septum morphology	22884	WDR37	OMIM:618652
HP:0010438	Abnormal ventricular septum morphology	7386	UQCRFS1	OMIM:618775
HP:0010438	Abnormal ventricular septum morphology	64121	RRAGC	OMIM:620609
HP:0010438	Abnormal ventricular septum morphology	23327	NEDD4L	OMIM:617201
HP:0010438	Abnormal ventricular septum morphology	168507	PKD1L1	OMIM:617205
HP:0010438	Abnormal ventricular septum morphology	93627	TBCK	ORPHA:488632
HP:0010438	Abnormal ventricular septum morphology	2783	GNB2	OMIM:619503
HP:0010438	Abnormal ventricular septum morphology	64132	XYLT2	ORPHA:85194
HP:0010438	Abnormal ventricular septum morphology	11193	WBP4	OMIM:620852
HP:0010438	Abnormal ventricular septum morphology	26834	RNU4-2	OMIM:620851
HP:0010438	Abnormal ventricular septum morphology	4247	MGAT2	OMIM:212066
HP:0010438	Abnormal ventricular septum morphology	4247	MGAT2	ORPHA:79329
HP:0010438	Abnormal ventricular septum morphology	81794	ADAMTS10	OMIM:277600
HP:0010438	Abnormal ventricular septum morphology	81794	ADAMTS10	ORPHA:3449
HP:0010438	Abnormal ventricular septum morphology	3476	IGBP1	ORPHA:52055
HP:0010438	Abnormal ventricular septum morphology	3476	IGBP1	OMIM:300472
HP:0010438	Abnormal ventricular septum morphology	5337	PLD1	OMIM:212093
HP:0010438	Abnormal ventricular septum morphology	8493	PPM1D	OMIM:617450
HP:0010438	Abnormal ventricular septum morphology	56006	SMG9	OMIM:619995
HP:0010438	Abnormal ventricular septum morphology	56006	SMG9	OMIM:616920
HP:0010438	Abnormal ventricular septum morphology	54539	NDUFB11	OMIM:309801
HP:0010438	Abnormal ventricular septum morphology	1349	COX7B	OMIM:309801
HP:0010438	Abnormal ventricular septum morphology	3052	HCCS	OMIM:309801
HP:0010438	Abnormal ventricular septum morphology	54914	FOCAD	OMIM:619991
HP:0010438	Abnormal ventricular septum morphology	51633	OTUD6B	OMIM:617452
HP:0010438	Abnormal ventricular septum morphology	51633	OTUD6B	ORPHA:505237
HP:0010438	Abnormal ventricular septum morphology	4613	MYCN	OMIM:620748
HP:0010438	Abnormal ventricular septum morphology	4613	MYCN	OMIM:164280
HP:0010438	Abnormal ventricular septum morphology	27125	AFF4	OMIM:616368
HP:0010438	Abnormal ventricular septum morphology	27125	AFF4	ORPHA:444077
HP:0010438	Abnormal ventricular septum morphology	5604	MAP2K1	OMIM:615279
HP:0010438	Abnormal ventricular septum morphology	5604	MAP2K1	OMIM:163950
HP:0010438	Abnormal ventricular septum morphology	150468	CKAP2L	OMIM:272440
HP:0010438	Abnormal ventricular septum morphology	150468	CKAP2L	ORPHA:3255
HP:0010438	Abnormal ventricular septum morphology	6899	TBX1	ORPHA:1727
HP:0010438	Abnormal ventricular septum morphology	6899	TBX1	OMIM:192430
HP:0010438	Abnormal ventricular septum morphology	6899	TBX1	ORPHA:567
HP:0010438	Abnormal ventricular septum morphology	6899	TBX1	ORPHA:3384
HP:0010438	Abnormal ventricular septum morphology	6899	TBX1	OMIM:188400
HP:0010438	Abnormal ventricular septum morphology	6134	RPL10	ORPHA:459070
HP:0010438	Abnormal ventricular septum morphology	6134	RPL10	OMIM:300998
HP:0010438	Abnormal ventricular septum morphology	415	ARSL	ORPHA:79345
HP:0010438	Abnormal ventricular septum morphology	1859	DYRK1A	ORPHA:464311
HP:0010438	Abnormal ventricular septum morphology	1859	DYRK1A	ORPHA:268261
HP:0010438	Abnormal ventricular septum morphology	79796	ALG9	ORPHA:79328
HP:0010438	Abnormal ventricular septum morphology	8314	BAP1	OMIM:619762
HP:0010438	Abnormal ventricular septum morphology	7750	ZMYM2	OMIM:619522
HP:0010438	Abnormal ventricular septum morphology	9158	FIBP	OMIM:617107
HP:0010438	Abnormal ventricular septum morphology	9158	FIBP	ORPHA:500095
HP:0010438	Abnormal ventricular septum morphology	200424	TET3	OMIM:618798
HP:0010438	Abnormal ventricular septum morphology	2542	SLC37A4	OMIM:619525
HP:0010438	Abnormal ventricular septum morphology	9772	TMEM94	OMIM:618316
HP:0010438	Abnormal ventricular septum morphology	57466	SCAF4	OMIM:620511
HP:0010438	Abnormal ventricular septum morphology	54487	DGCR8	OMIM:192430
HP:0010438	Abnormal ventricular septum morphology	8214	DGCR6	OMIM:192430
HP:0010438	Abnormal ventricular septum morphology	8220	ESS2	OMIM:192430
HP:0010438	Abnormal ventricular septum morphology	9993	DGCR2	OMIM:192430
HP:0010438	Abnormal ventricular septum morphology	51341	ZBTB7A	OMIM:619769
HP:0010438	Abnormal ventricular septum morphology	79728	PALB2	OMIM:610832
HP:0010438	Abnormal ventricular septum morphology	9968	MED12	OMIM:301068
HP:0010438	Abnormal ventricular septum morphology	9968	MED12	OMIM:309520
HP:0010438	Abnormal ventricular septum morphology	4621	MYH3	OMIM:178110
HP:0010438	Abnormal ventricular septum morphology	775	CACNA1C	OMIM:601005
HP:0010438	Abnormal ventricular septum morphology	2239	GPC4	ORPHA:373
HP:0010438	Abnormal ventricular septum morphology	2239	GPC4	OMIM:312870
HP:0010438	Abnormal ventricular septum morphology	2719	GPC3	ORPHA:373
HP:0010438	Abnormal ventricular septum morphology	2719	GPC3	OMIM:312870
HP:0010438	Abnormal ventricular septum morphology	23007	PLCH1	OMIM:619895
HP:0010438	Abnormal ventricular septum morphology	79989	IFT56	OMIM:619534
HP:0010438	Abnormal ventricular septum morphology	23483	TGDS	OMIM:616145
HP:0010438	Abnormal ventricular septum morphology	23483	TGDS	ORPHA:1388
HP:0010438	Abnormal ventricular septum morphology	10848	PPP1R13L	OMIM:620519
HP:0010438	Abnormal ventricular septum morphology	285203	EOGT	OMIM:615297
HP:0010438	Abnormal ventricular septum morphology	8565	YARS1	OMIM:619418
HP:0010438	Abnormal ventricular septum morphology	54916	TMEM260	OMIM:617478
HP:0010438	Abnormal ventricular septum morphology	25836	NIPBL	OMIM:122470
HP:0010438	Abnormal ventricular septum morphology	25836	NIPBL	ORPHA:199
HP:0010438	Abnormal ventricular septum morphology	23499	MACF1	OMIM:618325
HP:0010438	Abnormal ventricular septum morphology	3930	LBR	OMIM:169400
HP:0010438	Abnormal ventricular septum morphology	4087	SMAD2	OMIM:619657
HP:0010438	Abnormal ventricular septum morphology	404672	GTF2H5	ORPHA:33364
HP:0010438	Abnormal ventricular septum morphology	833	CARS1	ORPHA:33364
HP:0010438	Abnormal ventricular septum morphology	2068	ERCC2	ORPHA:33364
HP:0010438	Abnormal ventricular septum morphology	7737	RNF113A	ORPHA:33364
HP:0010438	Abnormal ventricular septum morphology	136647	MPLKIP	ORPHA:33364
HP:0010438	Abnormal ventricular septum morphology	136647	MPLKIP	OMIM:234050
HP:0010438	Abnormal ventricular septum morphology	6897	TARS1	ORPHA:33364
HP:0010438	Abnormal ventricular septum morphology	16	AARS1	ORPHA:33364
HP:0010438	Abnormal ventricular septum morphology	2071	ERCC3	ORPHA:33364
HP:0010438	Abnormal ventricular septum morphology	2961	GTF2E2	ORPHA:33364
HP:0010438	Abnormal ventricular septum morphology	54361	WNT4	OMIM:611812
HP:0010438	Abnormal ventricular septum morphology	54361	WNT4	ORPHA:139466
HP:0010438	Abnormal ventricular septum morphology	286204	CRB2	OMIM:219730
HP:0010438	Abnormal ventricular septum morphology	9896	FIG4	OMIM:216340
HP:0010438	Abnormal ventricular septum morphology	9896	FIG4	ORPHA:3472
HP:0010438	Abnormal ventricular septum morphology	6138	RPL15	ORPHA:124
HP:0010438	Abnormal ventricular septum morphology	6138	RPL15	OMIM:615550
HP:0010438	Abnormal ventricular septum morphology	6224	RPS20	ORPHA:124
HP:0010438	Abnormal ventricular septum morphology	6165	RPL35A	ORPHA:124
HP:0010438	Abnormal ventricular septum morphology	6165	RPL35A	OMIM:612528
HP:0010438	Abnormal ventricular septum morphology	6132	RPL8	ORPHA:124
HP:0010438	Abnormal ventricular septum morphology	6223	RPS19	ORPHA:124
HP:0010438	Abnormal ventricular septum morphology	6223	RPS19	OMIM:105650
HP:0010438	Abnormal ventricular septum morphology	6232	RPS27	ORPHA:124
HP:0010438	Abnormal ventricular septum morphology	55027	HEATR3	ORPHA:124
HP:0010438	Abnormal ventricular septum morphology	6160	RPL31	ORPHA:124
HP:0010438	Abnormal ventricular septum morphology	6201	RPS7	ORPHA:124
HP:0010438	Abnormal ventricular septum morphology	6155	RPL27	ORPHA:124
HP:0010438	Abnormal ventricular septum morphology	6234	RPS28	ORPHA:124
HP:0010438	Abnormal ventricular septum morphology	6135	RPL11	ORPHA:124
HP:0010438	Abnormal ventricular septum morphology	6135	RPL11	OMIM:612562
HP:0010438	Abnormal ventricular septum morphology	6229	RPS24	ORPHA:124
HP:0010438	Abnormal ventricular septum morphology	6125	RPL5	ORPHA:124
HP:0010438	Abnormal ventricular septum morphology	6125	RPL5	OMIM:612561
HP:0010438	Abnormal ventricular septum morphology	6204	RPS10	ORPHA:124
HP:0010438	Abnormal ventricular septum morphology	2623	GATA1	ORPHA:124
HP:0010438	Abnormal ventricular septum morphology	6133	RPL9	ORPHA:124
HP:0010438	Abnormal ventricular septum morphology	6231	RPS26	ORPHA:124
HP:0010438	Abnormal ventricular septum morphology	6231	RPS26	OMIM:613309
HP:0010438	Abnormal ventricular septum morphology	11224	RPL35	ORPHA:124
HP:0010438	Abnormal ventricular septum morphology	6218	RPS17	ORPHA:124
HP:0010438	Abnormal ventricular septum morphology	6154	RPL26	ORPHA:124
HP:0010438	Abnormal ventricular septum morphology	6210	RPS15A	ORPHA:124
HP:0010438	Abnormal ventricular septum morphology	90121	TSR2	ORPHA:124
HP:0010438	Abnormal ventricular septum morphology	6141	RPL18	ORPHA:124
HP:0010438	Abnormal ventricular septum morphology	6235	RPS29	ORPHA:124
HP:0010438	Abnormal ventricular septum morphology	51816	ADA2	ORPHA:124
HP:0010438	Abnormal ventricular septum morphology	6261	RYR1	OMIM:619542
HP:0010438	Abnormal ventricular septum morphology	8295	TRRAP	OMIM:618454
HP:0010438	Abnormal ventricular septum morphology	8621	CDK13	OMIM:617360
HP:0010438	Abnormal ventricular septum morphology	93233	ODAD1	OMIM:615067
HP:0010438	Abnormal ventricular septum morphology	1892	ECHS1	OMIM:616277
HP:0010438	Abnormal ventricular septum morphology	51117	COQ4	OMIM:616276
HP:0010438	Abnormal ventricular septum morphology	1523	CUX1	OMIM:618330
HP:0010438	Abnormal ventricular septum morphology	4212	MEIS2	ORPHA:261190
HP:0010438	Abnormal ventricular septum morphology	4212	MEIS2	OMIM:600987
HP:0010438	Abnormal ventricular septum morphology	115948	ODAD3	OMIM:616037
HP:0010438	Abnormal ventricular septum morphology	5908	RAP1B	OMIM:620654
HP:0010438	Abnormal ventricular septum morphology	55770	EXOC2	OMIM:619306
HP:0010438	Abnormal ventricular septum morphology	27145	FILIP1	OMIM:620775
HP:0010438	Abnormal ventricular septum morphology	6654	SOS1	OMIM:610733
HP:0010438	Abnormal ventricular septum morphology	6792	CDKL5	ORPHA:1934
HP:0010438	Abnormal ventricular septum morphology	3736	KCNA1	ORPHA:1934
HP:0010438	Abnormal ventricular septum morphology	9091	PIGQ	ORPHA:1934
HP:0010438	Abnormal ventricular septum morphology	140679	SLC32A1	ORPHA:1934
HP:0010438	Abnormal ventricular septum morphology	2775	GNAO1	ORPHA:1934
HP:0010438	Abnormal ventricular septum morphology	81603	TRIM8	ORPHA:1934
HP:0010438	Abnormal ventricular septum morphology	2902	GRIN1	ORPHA:1934
HP:0010438	Abnormal ventricular septum morphology	79751	SLC25A22	ORPHA:1934
HP:0010438	Abnormal ventricular septum morphology	150094	SIK1	ORPHA:1934
HP:0010438	Abnormal ventricular septum morphology	8573	CASK	ORPHA:1934
HP:0010438	Abnormal ventricular septum morphology	23312	DMXL2	ORPHA:1934
HP:0010438	Abnormal ventricular septum morphology	2917	GRM7	ORPHA:1934
HP:0010438	Abnormal ventricular septum morphology	170302	ARX	ORPHA:1934
HP:0010438	Abnormal ventricular septum morphology	170302	ARX	ORPHA:452
HP:0010438	Abnormal ventricular septum morphology	11284	PNKP	ORPHA:1934
HP:0010438	Abnormal ventricular septum morphology	6326	SCN2A	ORPHA:1934
HP:0010438	Abnormal ventricular septum morphology	51227	PIGP	ORPHA:1934
HP:0010438	Abnormal ventricular septum morphology	6324	SCN1B	ORPHA:1934
HP:0010438	Abnormal ventricular septum morphology	4761	NEUROD2	ORPHA:1934
HP:0010438	Abnormal ventricular septum morphology	7080	NKX2-1	OMIM:610978
HP:0010438	Abnormal ventricular septum morphology	7080	NKX2-1	ORPHA:209905
HP:0010438	Abnormal ventricular septum morphology	2263	FGFR2	OMIM:101200
HP:0010438	Abnormal ventricular septum morphology	2737	GLI3	ORPHA:672
HP:0010438	Abnormal ventricular septum morphology	2737	GLI3	OMIM:146510
HP:0010438	Abnormal ventricular septum morphology	9361	LONP1	OMIM:600373
HP:0010438	Abnormal ventricular septum morphology	9361	LONP1	ORPHA:79243
HP:0010438	Abnormal ventricular septum morphology	9361	LONP1	ORPHA:1458
HP:0010438	Abnormal ventricular septum morphology	22827	PUF60	ORPHA:508498
HP:0010438	Abnormal ventricular septum morphology	22827	PUF60	ORPHA:508488
HP:0010438	Abnormal ventricular septum morphology	22827	PUF60	OMIM:615583
HP:0010438	Abnormal ventricular septum morphology	388015	RTL1	ORPHA:254534
HP:0010438	Abnormal ventricular septum morphology	388015	RTL1	ORPHA:96334
HP:0010438	Abnormal ventricular septum morphology	8788	DLK1	ORPHA:254534
HP:0010438	Abnormal ventricular septum morphology	8788	DLK1	ORPHA:96334
HP:0010438	Abnormal ventricular septum morphology	55384	MEG3	ORPHA:254534
HP:0010438	Abnormal ventricular septum morphology	55384	MEG3	ORPHA:96334
HP:0010438	Abnormal ventricular septum morphology	23013	SPEN	OMIM:619312
HP:0010438	Abnormal ventricular septum morphology	123606	NIPA1	ORPHA:261183
HP:0010438	Abnormal ventricular septum morphology	7283	TUBG1	ORPHA:261183
HP:0010438	Abnormal ventricular septum morphology	81614	NIPA2	ORPHA:261183
HP:0010438	Abnormal ventricular septum morphology	2187	FANCB	OMIM:300514
HP:0010438	Abnormal ventricular septum morphology	23314	SATB2	ORPHA:251028
HP:0010438	Abnormal ventricular septum morphology	57122	NUP107	OMIM:618348
HP:0010438	Abnormal ventricular septum morphology	57122	NUP107	OMIM:616730
HP:0010438	Abnormal ventricular septum morphology	90459	ERI1	OMIM:620663
HP:0010438	Abnormal ventricular septum morphology	4838	NODAL	OMIM:270100
HP:0010438	Abnormal ventricular septum morphology	2627	GATA6	OMIM:600001
HP:0010438	Abnormal ventricular septum morphology	2627	GATA6	ORPHA:2255
HP:0010438	Abnormal ventricular septum morphology	55315	SLC29A3	OMIM:602782
HP:0010438	Abnormal ventricular septum morphology	55315	SLC29A3	ORPHA:1782
HP:0010438	Abnormal ventricular septum morphology	6299	SALL1	OMIM:107480
HP:0010438	Abnormal ventricular septum morphology	7490	WT1	ORPHA:3097
HP:0010438	Abnormal ventricular septum morphology	7490	WT1	OMIM:608978
HP:0010438	Abnormal ventricular septum morphology	1387	CREBBP	ORPHA:353281
HP:0010438	Abnormal ventricular septum morphology	1387	CREBBP	OMIM:180849
HP:0010438	Abnormal ventricular septum morphology	1387	CREBBP	ORPHA:353277
HP:0010438	Abnormal ventricular septum morphology	23395	LARS2	OMIM:617021
HP:0010438	Abnormal ventricular septum morphology	6651	SON	OMIM:617140
HP:0010438	Abnormal ventricular septum morphology	55215	FANCI	OMIM:609053
HP:0010438	Abnormal ventricular septum morphology	8312	AXIN1	OMIM:620558
HP:0010438	Abnormal ventricular septum morphology	2033	EP300	ORPHA:353284
HP:0010438	Abnormal ventricular septum morphology	2033	EP300	OMIM:180849
HP:0010438	Abnormal ventricular septum morphology	4041	LRP5	OMIM:259770
HP:0010438	Abnormal ventricular septum morphology	9126	SMC3	OMIM:610759
HP:0010438	Abnormal ventricular septum morphology	9126	SMC3	ORPHA:199
HP:0010438	Abnormal ventricular septum morphology	79068	FTO	OMIM:612938
HP:0010438	Abnormal ventricular septum morphology	8626	TP63	OMIM:106260
HP:0010438	Abnormal ventricular septum morphology	473	RERE	ORPHA:494344
HP:0010438	Abnormal ventricular septum morphology	473	RERE	OMIM:616975
HP:0010438	Abnormal ventricular septum morphology	4784	NFIX	OMIM:602535
HP:0010438	Abnormal ventricular septum morphology	4784	NFIX	ORPHA:447980
HP:0010438	Abnormal ventricular septum morphology	57551	TAOK1	OMIM:619575
HP:0010438	Abnormal ventricular septum morphology	8260	NAA10	OMIM:300855
HP:0010438	Abnormal ventricular septum morphology	8260	NAA10	ORPHA:276432
HP:0010438	Abnormal ventricular septum morphology	10082	GPC6	OMIM:258315
HP:0010438	Abnormal ventricular septum morphology	1108	CHD4	OMIM:617159
HP:0010438	Abnormal ventricular septum morphology	23476	BRD4	OMIM:620568
HP:0010438	Abnormal ventricular septum morphology	23476	BRD4	ORPHA:199
HP:0010438	Abnormal ventricular septum morphology	23389	MED13L	ORPHA:369891
HP:0010438	Abnormal ventricular septum morphology	1312	COMT	ORPHA:567
HP:0010438	Abnormal ventricular septum morphology	221037	JMJD1C	ORPHA:567
HP:0010438	Abnormal ventricular septum morphology	2812	GP1BB	ORPHA:567
HP:0010438	Abnormal ventricular septum morphology	6239	RREB1	ORPHA:567
HP:0010438	Abnormal ventricular septum morphology	7290	HIRA	ORPHA:567
HP:0010438	Abnormal ventricular septum morphology	9632	SEC24C	ORPHA:567
HP:0010438	Abnormal ventricular septum morphology	7353	UFD1	ORPHA:567
HP:0010438	Abnormal ventricular septum morphology	421	ARVCF	ORPHA:567
HP:0010438	Abnormal ventricular septum morphology	3265	HRAS	ORPHA:3071
HP:0010438	Abnormal ventricular septum morphology	3265	HRAS	OMIM:218040
HP:0010438	Abnormal ventricular septum morphology	26276	VPS33B	OMIM:208085
HP:0010438	Abnormal ventricular septum morphology	10524	KAT5	OMIM:619103
HP:0010438	Abnormal ventricular septum morphology	372	ARCN1	OMIM:617164
HP:0010438	Abnormal ventricular septum morphology	1822	ATN1	OMIM:618494
HP:0010438	Abnormal ventricular septum morphology	6304	SATB1	OMIM:619229
HP:0010438	Abnormal ventricular septum morphology	6811	STX5	OMIM:620454
HP:0010438	Abnormal ventricular septum morphology	4990	SIX6	OMIM:206900
HP:0010438	Abnormal ventricular septum morphology	6657	SOX2	OMIM:206900
HP:0010438	Abnormal ventricular septum morphology	6657	SOX2	ORPHA:77298
HP:0010438	Abnormal ventricular septum morphology	8883	NAE1	OMIM:620210
HP:0010438	Abnormal ventricular septum morphology	9343	EFTUD2	OMIM:610536
HP:0010438	Abnormal ventricular septum morphology	64864	RFX7	OMIM:620330
HP:0010438	Abnormal ventricular septum morphology	164781	DAW1	OMIM:620570
HP:0010438	Abnormal ventricular septum morphology	57003	CCDC47	OMIM:618268
HP:0010438	Abnormal ventricular septum morphology	5977	DPF2	OMIM:618027
HP:0010438	Abnormal ventricular septum morphology	5977	DPF2	ORPHA:1465
HP:0010438	Abnormal ventricular septum morphology	57061	HYMAI	ORPHA:96191
HP:0010438	Abnormal ventricular septum morphology	5325	PLAGL1	ORPHA:96191
HP:0010438	Abnormal ventricular septum morphology	10526	IPO8	OMIM:619472
HP:0010438	Abnormal ventricular septum morphology	64840	PORCN	ORPHA:2092
HP:0010438	Abnormal ventricular septum morphology	348180	CTU2	OMIM:618142
HP:0010438	Abnormal ventricular septum morphology	340419	RSPO2	OMIM:618021
HP:0010438	Abnormal ventricular septum morphology	145173	B3GLCT	OMIM:261540
HP:0010438	Abnormal ventricular septum morphology	6711	SPTBN1	OMIM:619475
HP:0010438	Abnormal ventricular septum morphology	26005	C2CD3	ORPHA:434179
HP:0010438	Abnormal ventricular septum morphology	26005	C2CD3	OMIM:615948
HP:0010438	Abnormal ventricular septum morphology	57514	ARHGAP31	OMIM:100300
HP:0010438	Abnormal ventricular septum morphology	10283	CWC27	OMIM:250410
HP:0010438	Abnormal ventricular septum morphology	10283	CWC27	ORPHA:166035
HP:0010438	Abnormal ventricular septum morphology	2006	ELN	OMIM:123700
HP:0010438	Abnormal ventricular septum morphology	2006	ELN	ORPHA:904
HP:0010438	Abnormal ventricular septum morphology	2006	ELN	OMIM:194050
HP:0010438	Abnormal ventricular septum morphology	7204	TRIO	OMIM:617061
HP:0010438	Abnormal ventricular septum morphology	5290	PIK3CA	OMIM:602501
HP:0010438	Abnormal ventricular septum morphology	285590	SH3PXD2B	OMIM:249420
HP:0010438	Abnormal ventricular septum morphology	374879	ZNF699	OMIM:619488
HP:0010438	Abnormal ventricular septum morphology	4841	NONO	OMIM:300967
HP:0010438	Abnormal ventricular septum morphology	4841	NONO	ORPHA:466791
HP:0010438	Abnormal ventricular septum morphology	51715	RAB23	OMIM:201000
HP:0010438	Abnormal ventricular septum morphology	8318	CDC45	OMIM:617063
HP:0010438	Abnormal ventricular septum morphology	29123	ANKRD11	ORPHA:261250
HP:0010438	Abnormal ventricular septum morphology	28952	CCDC22	OMIM:300963
HP:0010438	Abnormal ventricular septum morphology	28952	CCDC22	ORPHA:7
HP:0010438	Abnormal ventricular septum morphology	90416	CCDC32	OMIM:619123
HP:0010438	Abnormal ventricular septum morphology	118924	FRA10AC1	OMIM:620113
HP:0010438	Abnormal ventricular septum morphology	4222	MEOX1	OMIM:214300
HP:0010438	Abnormal ventricular septum morphology	4222	MEOX1	ORPHA:2345
HP:0010438	Abnormal ventricular septum morphology	407975	MIR17HG	ORPHA:391646
HP:0010438	Abnormal ventricular septum morphology	126792	B3GALT6	OMIM:271640
HP:0010438	Abnormal ventricular septum morphology	745	MYRF	OMIM:618280
HP:0010438	Abnormal ventricular septum morphology	10084	PQBP1	OMIM:309500
HP:0010438	Abnormal ventricular septum morphology	2176	FANCC	OMIM:227645
HP:0010438	Abnormal ventricular septum morphology	4256	MGP	OMIM:245150
HP:0010438	Abnormal ventricular septum morphology	4256	MGP	ORPHA:85202
HP:0010438	Abnormal ventricular septum morphology	5528	PPP2R5D	ORPHA:457279
HP:0010438	Abnormal ventricular septum morphology	84231	TRAF7	OMIM:618164
HP:0010438	Abnormal ventricular septum morphology	9487	PIGL	OMIM:280000
HP:0010438	Abnormal ventricular septum morphology	9487	PIGL	ORPHA:3474
HP:0010438	Abnormal ventricular septum morphology	5236	PGM1	OMIM:614921
HP:0010438	Abnormal ventricular septum morphology	5297	PI4KA	ORPHA:436252
HP:0010438	Abnormal ventricular septum morphology	57217	TTC7A	ORPHA:436252
HP:0010438	Abnormal ventricular septum morphology	57217	TTC7A	OMIM:243150
HP:0010438	Abnormal ventricular septum morphology	3643	INSR	ORPHA:769
HP:0010438	Abnormal ventricular septum morphology	23522	KAT6B	ORPHA:3047
HP:0010438	Abnormal ventricular septum morphology	23522	KAT6B	OMIM:606170
HP:0010438	Abnormal ventricular septum morphology	219844	HYLS1	OMIM:236680
HP:0010438	Abnormal ventricular septum morphology	9897	WASHC5	ORPHA:7
HP:0010438	Abnormal ventricular septum morphology	9897	WASHC5	OMIM:220210
HP:0010438	Abnormal ventricular septum morphology	57020	VPS35L	ORPHA:7
HP:0010438	Abnormal ventricular septum morphology	56896	DPYSL5	ORPHA:7
HP:0010438	Abnormal ventricular septum morphology	55181	SMG8	OMIM:619268
HP:0010438	Abnormal ventricular septum morphology	9652	SKIC3	ORPHA:84064
HP:0010438	Abnormal ventricular septum morphology	9652	SKIC3	OMIM:222470
HP:0010438	Abnormal ventricular septum morphology	6499	SKIC2	ORPHA:84064
HP:0010438	Abnormal ventricular septum morphology	26123	TCTN3	OMIM:614815
HP:0010438	Abnormal ventricular septum morphology	3480	IGF1R	OMIM:270450
HP:0010438	Abnormal ventricular septum morphology	8085	KMT2D	OMIM:147920
HP:0010438	Abnormal ventricular septum morphology	7403	KDM6A	OMIM:147920
HP:0010438	Abnormal ventricular septum morphology	2294	FOXF1	OMIM:265380
HP:0010438	Abnormal ventricular septum morphology	2294	FOXF1	ORPHA:210122
HP:0010438	Abnormal ventricular septum morphology	137814	NKX2-6	ORPHA:3384
HP:0010438	Abnormal ventricular septum morphology	23129	PLXND1	ORPHA:3384
HP:0010438	Abnormal ventricular septum morphology	10262	SF3B4	OMIM:154400
HP:0010438	Abnormal ventricular septum morphology	894	CCND2	ORPHA:83473
HP:0010438	Abnormal ventricular septum morphology	5296	PIK3R2	ORPHA:83473
HP:0010438	Abnormal ventricular septum morphology	5296	PIK3R2	OMIM:603387
HP:0010438	Abnormal ventricular septum morphology	10000	AKT3	ORPHA:83473
HP:0010438	Abnormal ventricular septum morphology	23241	PACS2	OMIM:618067
HP:0010438	Abnormal ventricular septum morphology	26128	KIFBP	OMIM:609460
HP:0010438	Abnormal ventricular septum morphology	83700	JAM3	OMIM:613730
HP:0010438	Abnormal ventricular septum morphology	2657	GDF1	OMIM:613854
HP:0010438	Abnormal ventricular septum morphology	2657	GDF1	OMIM:208530
HP:0010438	Abnormal ventricular septum morphology	123263	MTFMT	OMIM:614947
HP:0010438	Abnormal ventricular septum morphology	8854	ALDH1A2	OMIM:620025
HP:0010438	Abnormal ventricular septum morphology	10992	SF3B2	OMIM:164210
HP:0010438	Abnormal ventricular septum morphology	8496	PPFIBP1	OMIM:620024
HP:0010438	Abnormal ventricular septum morphology	9839	ZEB2	OMIM:235730
HP:0010438	Abnormal ventricular septum morphology	9839	ZEB2	ORPHA:261552
HP:0010438	Abnormal ventricular septum morphology	64324	NSD1	ORPHA:821
HP:0010438	Abnormal ventricular septum morphology	64324	NSD1	OMIM:117550
HP:0010438	Abnormal ventricular septum morphology	10297	APC2	ORPHA:821
HP:0010438	Abnormal ventricular septum morphology	4281	MID1	OMIM:300000
HP:0010438	Abnormal ventricular septum morphology	4281	MID1	ORPHA:2745
HP:0010438	Abnormal ventricular septum morphology	80232	WDR26	ORPHA:513456
HP:0010438	Abnormal ventricular septum morphology	80232	WDR26	OMIM:617616
HP:0010438	Abnormal ventricular septum morphology	613	BCR	ORPHA:261330
HP:0010438	Abnormal ventricular septum morphology	1399	CRKL	ORPHA:261330
HP:0010438	Abnormal ventricular septum morphology	5594	MAPK1	ORPHA:261330
HP:0010438	Abnormal ventricular septum morphology	89910	UBE3B	OMIM:244450
HP:0010438	Abnormal ventricular septum morphology	55249	YY1AP1	ORPHA:79094
HP:0010438	Abnormal ventricular septum morphology	1717	DHCR7	ORPHA:818
HP:0010438	Abnormal ventricular septum morphology	1717	DHCR7	OMIM:270400
HP:0010438	Abnormal ventricular septum morphology	10225	CD96	OMIM:211750
HP:0010438	Abnormal ventricular septum morphology	7175	TPR	OMIM:620393
HP:0010438	Abnormal ventricular septum morphology	57492	ARID1B	OMIM:135900
HP:0010438	Abnormal ventricular septum morphology	57492	ARID1B	ORPHA:1465
HP:0010438	Abnormal ventricular septum morphology	5119	CHMP1A	OMIM:614961
HP:0010438	Abnormal ventricular septum morphology	1889	ECE1	OMIM:613870
HP:0010438	Abnormal ventricular septum morphology	93	ACVR2B	OMIM:613751
HP:0010438	Abnormal ventricular septum morphology	1801	DPH1	OMIM:616901
HP:0010438	Abnormal ventricular septum morphology	8772	FADD	OMIM:613759
HP:0010438	Abnormal ventricular septum morphology	8772	FADD	ORPHA:306550
HP:0010438	Abnormal ventricular septum morphology	6597	SMARCA4	OMIM:614609
HP:0010438	Abnormal ventricular septum morphology	6597	SMARCA4	ORPHA:1465
HP:0010438	Abnormal ventricular septum morphology	55697	VAC14	ORPHA:3472
HP:0010438	Abnormal ventricular septum morphology	6885	MAP3K7	OMIM:157800
HP:0010438	Abnormal ventricular septum morphology	55148	UBR7	OMIM:619189
HP:0010438	Abnormal ventricular septum morphology	79813	EHMT1	OMIM:610253
HP:0010438	Abnormal ventricular septum morphology	55636	CHD7	OMIM:214800
HP:0010438	Abnormal ventricular septum morphology	63894	VIPAS39	OMIM:613404
HP:0010438	Abnormal ventricular septum morphology	4036	LRP2	ORPHA:2143
HP:0010438	Abnormal ventricular septum morphology	4036	LRP2	OMIM:222448
HP:0010438	Abnormal ventricular septum morphology	7468	NSD2	OMIM:194190
HP:0010438	Abnormal ventricular septum morphology	10815	CPLX1	OMIM:194190
HP:0010438	Abnormal ventricular septum morphology	1487	CTBP1	OMIM:194190
HP:0010438	Abnormal ventricular septum morphology	53834	FGFRL1	OMIM:194190
HP:0010438	Abnormal ventricular septum morphology	3954	LETM1	OMIM:194190
HP:0010438	Abnormal ventricular septum morphology	26227	PHGDH	OMIM:256520
HP:0010438	Abnormal ventricular septum morphology	23118	TAB2	OMIM:614980
HP:0010438	Abnormal ventricular septum morphology	4519	MT-CYB	ORPHA:137675
HP:0010438	Abnormal ventricular septum morphology	5828	PEX2	OMIM:614866
HP:0010438	Abnormal ventricular septum morphology	5828	PEX2	ORPHA:912
HP:0010438	Abnormal ventricular septum morphology	6804	STX1A	ORPHA:904
HP:0010438	Abnormal ventricular septum morphology	7461	CLIP2	ORPHA:904
HP:0010438	Abnormal ventricular septum morphology	84277	DNAJC30	ORPHA:904
HP:0010438	Abnormal ventricular septum morphology	8468	FKBP6	ORPHA:904
HP:0010438	Abnormal ventricular septum morphology	5982	RFC2	ORPHA:904
HP:0010438	Abnormal ventricular septum morphology	2969	GTF2I	ORPHA:904
HP:0010438	Abnormal ventricular septum morphology	3984	LIMK1	ORPHA:904
HP:0010438	Abnormal ventricular septum morphology	9569	GTF2IRD1	ORPHA:904
HP:0010438	Abnormal ventricular septum morphology	155382	VPS37D	ORPHA:904
HP:0010438	Abnormal ventricular septum morphology	155368	METTL27	ORPHA:904
HP:0010438	Abnormal ventricular septum morphology	114049	BUD23	ORPHA:904
HP:0010438	Abnormal ventricular septum morphology	7458	EIF4H	ORPHA:904
HP:0010438	Abnormal ventricular septum morphology	84163	GTF2IRD2	ORPHA:904
HP:0010438	Abnormal ventricular septum morphology	26608	TBL2	ORPHA:904
HP:0010438	Abnormal ventricular septum morphology	653361	NCF1	ORPHA:904
HP:0010438	Abnormal ventricular septum morphology	135886	TMEM270	ORPHA:904
HP:0010438	Abnormal ventricular septum morphology	9031	BAZ1B	ORPHA:904
HP:0010438	Abnormal ventricular septum morphology	83475	DOHH	OMIM:620066
HP:0010438	Abnormal ventricular septum morphology	55719	SLF2	OMIM:620184
HP:0010438	Abnormal ventricular septum morphology	10907	TXNL4A	OMIM:608572
HP:0010438	Abnormal ventricular septum morphology	6558	SLC12A2	OMIM:619083
HP:0010438	Abnormal ventricular septum morphology	10236	HNRNPR	OMIM:620073
HP:0010438	Abnormal ventricular septum morphology	2200	FBN1	OMIM:608328
HP:0010438	Abnormal ventricular septum morphology	2200	FBN1	ORPHA:3449
HP:0010438	Abnormal ventricular septum morphology	6628	SNRPB	ORPHA:1393
HP:0010438	Abnormal ventricular septum morphology	6628	SNRPB	OMIM:117650
HP:0010438	Abnormal ventricular septum morphology	4089	SMAD4	OMIM:139210
HP:0010438	Abnormal ventricular septum morphology	182	JAG1	OMIM:118450
HP:0010438	Abnormal ventricular septum morphology	182	JAG1	OMIM:617992
HP:0010438	Abnormal ventricular septum morphology	9409	PEX16	OMIM:614876
HP:0010438	Abnormal ventricular septum morphology	9409	PEX16	ORPHA:912
HP:0010438	Abnormal ventricular septum morphology	51244	CCDC174	OMIM:616816
HP:0010438	Abnormal ventricular septum morphology	2065	ERBB3	OMIM:607598
HP:0010438	Abnormal ventricular septum morphology	51085	MLXIPL	OMIM:194050
HP:0010438	Abnormal ventricular septum morphology	51322	WAC	ORPHA:284169
HP:0010438	Abnormal ventricular septum morphology	10324	KLHL41	OMIM:615731
HP:0010438	Abnormal ventricular septum morphology	170691	ADAMTS17	ORPHA:3449
HP:0010438	Abnormal ventricular septum morphology	4053	LTBP2	ORPHA:3449
HP:0010438	Abnormal ventricular septum morphology	80184	CEP290	OMIM:611134
HP:0010438	Abnormal ventricular septum morphology	140628	GATA5	OMIM:617912
HP:0010438	Abnormal ventricular septum morphology	8195	MKKS	ORPHA:2473
HP:0010438	Abnormal ventricular septum morphology	147372	CCBE1	OMIM:235510
HP:0010438	Abnormal ventricular septum morphology	4851	NOTCH1	OMIM:109730
HP:0010438	Abnormal ventricular septum morphology	157570	ESCO2	OMIM:268300
HP:0010438	Abnormal ventricular septum morphology	171023	ASXL1	OMIM:605039
HP:0010438	Abnormal ventricular septum morphology	2317	FLNB	OMIM:150250
HP:0010438	Abnormal ventricular septum morphology	79228	THOC6	OMIM:613680
HP:0010438	Abnormal ventricular septum morphology	2303	FOXC2	OMIM:153400
HP:0010438	Abnormal ventricular septum morphology	667	DST	OMIM:614653
HP:0010438	Abnormal ventricular septum morphology	9573	GDF3	ORPHA:2345
HP:0010438	Abnormal ventricular septum morphology	392255	GDF6	ORPHA:2345
HP:0010438	Abnormal ventricular septum morphology	55690	PACS1	ORPHA:329224
HP:0010438	Abnormal ventricular septum morphology	7319	UBE2A	ORPHA:163956
HP:0010438	Abnormal ventricular septum morphology	10664	CTCF	OMIM:615502
HP:0010438	Abnormal ventricular septum morphology	55112	DYNC2I1	OMIM:615503
HP:0010438	Abnormal ventricular septum morphology	63895	PIEZO2	ORPHA:2461
HP:0010438	Abnormal ventricular septum morphology	55670	PEX26	ORPHA:912
HP:0010438	Abnormal ventricular septum morphology	5824	PEX19	ORPHA:912
HP:0010438	Abnormal ventricular septum morphology	8504	PEX3	ORPHA:912
HP:0010438	Abnormal ventricular septum morphology	8799	PEX11B	ORPHA:912
HP:0010438	Abnormal ventricular septum morphology	5190	PEX6	ORPHA:912
HP:0010438	Abnormal ventricular septum morphology	5830	PEX5	ORPHA:912
HP:0010438	Abnormal ventricular septum morphology	5193	PEX12	ORPHA:912
HP:0010438	Abnormal ventricular septum morphology	5194	PEX13	ORPHA:912
HP:0010438	Abnormal ventricular septum morphology	5195	PEX14	ORPHA:912
HP:0010438	Abnormal ventricular septum morphology	5192	PEX10	ORPHA:912
HP:0010438	Abnormal ventricular septum morphology	6888	TALDO1	OMIM:606003
HP:0010438	Abnormal ventricular septum morphology	10735	STAG2	OMIM:301043
HP:0010438	Abnormal ventricular septum morphology	8243	SMC1A	OMIM:301044
HP:0010438	Abnormal ventricular septum morphology	8243	SMC1A	ORPHA:199
HP:0010438	Abnormal ventricular septum morphology	7026	NR2F2	OMIM:618901
HP:0010438	Abnormal ventricular septum morphology	7026	NR2F2	OMIM:615779
HP:0010438	Abnormal ventricular septum morphology	11020	IFT27	OMIM:615996
HP:0010438	Abnormal ventricular septum morphology	100151683	RNU4ATAC	OMIM:210710
HP:0010438	Abnormal ventricular septum morphology	100151683	RNU4ATAC	OMIM:616651
HP:0010438	Abnormal ventricular septum morphology	5648	MASP1	OMIM:257920
HP:0010438	Abnormal ventricular septum morphology	26160	IFT172	OMIM:615630
HP:0010438	Abnormal ventricular septum morphology	1788	DNMT3A	OMIM:615879
HP:0010438	Abnormal ventricular septum morphology	65062	TMEM237	OMIM:614424
HP:0010438	Abnormal ventricular septum morphology	85358	SHANK3	OMIM:606232
HP:0010438	Abnormal ventricular septum morphology	1482	NKX2-5	OMIM:108900
HP:0010438	Abnormal ventricular septum morphology	1482	NKX2-5	OMIM:614432
HP:0010438	Abnormal ventricular septum morphology	1482	NKX2-5	OMIM:614435
HP:0010438	Abnormal ventricular septum morphology	546	ATRX	OMIM:301040
HP:0010438	Abnormal ventricular septum morphology	57167	SALL4	OMIM:607323
HP:0010438	Abnormal ventricular septum morphology	55593	OTUD5	OMIM:301056
HP:0010438	Abnormal ventricular septum morphology	1837	DTNA	OMIM:604169
HP:0010438	Abnormal ventricular septum morphology	57465	TBC1D24	OMIM:220500
HP:0010438	Abnormal ventricular septum morphology	4854	NOTCH3	OMIM:130720
HP:0010438	Abnormal ventricular septum morphology	4854	NOTCH3	ORPHA:2789
HP:0010438	Abnormal ventricular septum morphology	83479	DDX59	OMIM:174300
HP:0010438	Abnormal ventricular septum morphology	10560	SLC19A2	ORPHA:49827
HP:0010438	Abnormal ventricular septum morphology	10560	SLC19A2	OMIM:249270
HP:0010438	Abnormal ventricular septum morphology	5915	RARB	OMIM:615524
HP:0010438	Abnormal ventricular septum morphology	5053	PAH	ORPHA:2209
HP:0010438	Abnormal ventricular septum morphology	7547	ZIC3	OMIM:306955
HP:0010438	Abnormal ventricular septum morphology	6598	SMARCB1	ORPHA:1465
HP:0010438	Abnormal ventricular septum morphology	8289	ARID1A	ORPHA:1465
HP:0010438	Abnormal ventricular septum morphology	6601	SMARCC2	ORPHA:1465
HP:0010438	Abnormal ventricular septum morphology	6602	SMARCD1	ORPHA:1465
HP:0010438	Abnormal ventricular septum morphology	196528	ARID2	ORPHA:1465
HP:0010438	Abnormal ventricular septum morphology	6605	SMARCE1	ORPHA:1465
HP:0010438	Abnormal ventricular septum morphology	6664	SOX11	ORPHA:1465
HP:0010438	Abnormal ventricular septum morphology	5160	PDHA1	ORPHA:79243
HP:0010438	Abnormal ventricular septum morphology	6606	SMN1	OMIM:253300
HP:0010438	Abnormal ventricular septum morphology	3209	HOXA13	ORPHA:2438
HP:0010438	Abnormal ventricular septum morphology	5422	POLA1	OMIM:301030
HP:0010438	Abnormal ventricular septum morphology	79576	NKAP	OMIM:301039
HP:0010438	Abnormal ventricular septum morphology	25	ABL1	OMIM:617602
HP:0010438	Abnormal ventricular septum morphology	57511	COG6	OMIM:614576
HP:0010438	Abnormal ventricular septum morphology	2260	FGFR1	OMIM:613001
HP:0010438	Abnormal ventricular septum morphology	2313	FLI1	ORPHA:2308
HP:0010438	Abnormal ventricular septum morphology	7074	TIAM1	OMIM:619908
HP:0010438	Abnormal ventricular septum morphology	59336	PRDM13	OMIM:619909
HP:0010438	Abnormal ventricular septum morphology	6878	TAF6	ORPHA:199
HP:0010438	Abnormal ventricular septum morphology	55869	HDAC8	ORPHA:199
HP:0010438	Abnormal ventricular septum morphology	5885	RAD21	ORPHA:199
HP:0010438	Abnormal ventricular septum morphology	157680	VPS13B	ORPHA:193
HP:0010438	Abnormal ventricular septum morphology	10367	MICU1	OMIM:615673
HP:0010438	Abnormal ventricular septum morphology	3845	KRAS	OMIM:609942
HP:0010438	Abnormal ventricular septum morphology	54880	BCOR	OMIM:300166
HP:0010438	Abnormal ventricular septum morphology	55617	TASP1	OMIM:618950
HP:0010438	Abnormal ventricular septum morphology	1857	DVL3	OMIM:616894
HP:0010438	Abnormal ventricular septum morphology	10293	TRAIP	OMIM:616777
HP:0010438	Abnormal ventricular septum morphology	9702	CEP57	OMIM:614114
HP:0010438	Abnormal ventricular septum morphology	202018	TAPT1	OMIM:616897
HP:0010438	Abnormal ventricular septum morphology	5500	PPP1CB	OMIM:617506
HP:0010438	Abnormal ventricular septum morphology	93649	MYOCD	OMIM:618719
HP:0010438	Abnormal ventricular septum morphology	139285	AMER1	OMIM:300373
HP:0010438	Abnormal ventricular septum morphology	5879	RAC1	OMIM:617751
HP:0010438	Abnormal ventricular septum morphology	5879	RAC1	ORPHA:500159
HP:0010438	Abnormal ventricular septum morphology	10274	STAG1	OMIM:617635
HP:0010438	Abnormal ventricular septum morphology	51780	KDM3B	OMIM:618846
HP:0010438	Abnormal ventricular septum morphology	1663	DDX11	OMIM:613398
HP:0010438	Abnormal ventricular septum morphology	10312	TCIRG1	ORPHA:1782
HP:0010438	Abnormal ventricular septum morphology	8792	TNFRSF11A	ORPHA:1782
HP:0010438	Abnormal ventricular septum morphology	5718	PSMD12	OMIM:617516
HP:0010438	Abnormal ventricular septum morphology	9439	MED23	OMIM:614249
HP:0010438	Abnormal ventricular septum morphology	9939	RBM8A	OMIM:274000
HP:0010438	Abnormal ventricular septum morphology	64131	XYLT1	ORPHA:1425
HP:0010438	Abnormal ventricular septum morphology	124583	CANT1	ORPHA:1425
HP:0010438	Abnormal ventricular septum morphology	37	ACADVL	ORPHA:26793
HP:0010438	Abnormal ventricular septum morphology	7043	TGFB3	OMIM:615582
HP:0010438	Abnormal ventricular septum morphology	7543	ZFX	OMIM:301118
HP:0010438	Abnormal ventricular septum morphology	523	ATP6V1A	OMIM:617403
HP:0010438	Abnormal ventricular septum morphology	7372	UMPS	OMIM:258900
HP:0010438	Abnormal ventricular septum morphology	84148	KAT8	OMIM:618974
HP:0010438	Abnormal ventricular septum morphology	6655	SOS2	OMIM:616559
HP:0010438	Abnormal ventricular septum morphology	100128908	CIROP	OMIM:619702
HP:0010438	Abnormal ventricular septum morphology	58499	ZNF462	OMIM:618619
HP:0010438	Abnormal ventricular septum morphology	673	BRAF	OMIM:163950
HP:0010438	Abnormal ventricular septum morphology	5781	PTPN11	OMIM:163950
HP:0010438	Abnormal ventricular septum morphology	57538	ALPK3	OMIM:618052
HP:0010438	Abnormal ventricular septum morphology	5605	MAP2K2	OMIM:615280
HP:0010438	Abnormal ventricular septum morphology	4633	MYL2	OMIM:608758
HP:0010438	Abnormal ventricular septum morphology	221496	LEMD2	OMIM:619322
HP:0010438	Abnormal ventricular septum morphology	2992	GYG1	ORPHA:263297
HP:0010438	Abnormal ventricular septum morphology	4607	MYBPC3	OMIM:115197
HP:0010438	Abnormal ventricular septum morphology	2717	GLA	OMIM:301500
HP:0010438	Abnormal ventricular septum morphology	26580	BSCL2	OMIM:269700
HP:0010438	Abnormal ventricular septum morphology	84665	MYPN	OMIM:615248
HP:0010438	Abnormal ventricular septum morphology	8048	CSRP3	OMIM:612124
HP:0010438	Abnormal ventricular septum morphology	7139	TNNT2	OMIM:115195
HP:0010438	Abnormal ventricular septum morphology	23345	SYNE1	OMIM:612998
HP:0010438	Abnormal ventricular septum morphology	1802	DPH2	OMIM:620062
HP:0010438	Abnormal ventricular septum morphology	6123	RPL3L	OMIM:619371
HP:0010438	Abnormal ventricular septum morphology	5700	PSMC1	OMIM:620071
HP:0010438	Abnormal ventricular septum morphology	5515	PPP2CA	OMIM:618354
HP:0010438	Abnormal ventricular septum morphology	2703	GJA8	OMIM:612474
HP:0010438	Abnormal ventricular septum morphology	2702	GJA5	OMIM:612474
HP:0010438	Abnormal ventricular septum morphology	23511	NUP188	OMIM:618804
HP:0010438	Abnormal ventricular septum morphology	131118	DNAJC19	ORPHA:66634
HP:0010438	Abnormal ventricular septum morphology	23545	ATP6V0A2	OMIM:278250
HP:0010438	Abnormal ventricular septum morphology	51729	WBP11	OMIM:619227
HP:0010438	Abnormal ventricular septum morphology	439	GET3	OMIM:620203
HP:0010438	Abnormal ventricular septum morphology	374969	SVBP	OMIM:618569
HP:0010438	Abnormal ventricular septum morphology	79087	ALG12	ORPHA:79324
HP:0010438	Abnormal ventricular septum morphology	51611	DPH5	OMIM:620070
HP:0010438	Abnormal ventricular septum morphology	1828	DSG1	OMIM:615508
HP:0010438	Abnormal ventricular septum morphology	3417	IDH1	ORPHA:99646
HP:0010438	Abnormal ventricular septum morphology	2271	FH	OMIM:606812
HP:0010438	Abnormal ventricular septum morphology	91949	COG7	OMIM:608779
HP:0010438	Abnormal ventricular septum morphology	4718	NDUFC2	OMIM:619170
HP:0010438	Abnormal ventricular septum morphology	808	CALM3	OMIM:618782
HP:0010438	Abnormal ventricular septum morphology	650	BMP2	OMIM:617877
HP:0010438	Abnormal ventricular septum morphology	1107	CHD3	OMIM:618205
HP:0010438	Abnormal ventricular septum morphology	79645	CLXN	OMIM:620642
HP:0010438	Abnormal ventricular septum morphology	22872	SEC31A	OMIM:618651
HP:0010438	Abnormal ventricular septum morphology	10370	CITED2	OMIM:614431
HP:0010438	Abnormal ventricular septum morphology	4625	MYH7	OMIM:613426
HP:0010438	Abnormal ventricular septum morphology	79053	ALG8	OMIM:608104
HP:0010438	Abnormal ventricular septum morphology	4713	NDUFB7	OMIM:620135
HP:0001629	Ventricular septal defect	8036	SHOC2	OMIM:607721
HP:0001629	Ventricular septal defect	10617	STAMBP	OMIM:614261
HP:0001629	Ventricular septal defect	6910	TBX5	ORPHA:392
HP:0001629	Ventricular septal defect	6910	TBX5	OMIM:142900
HP:0001629	Ventricular septal defect	28981	IFT81	OMIM:617895
HP:0001629	Ventricular septal defect	8216	LZTR1	OMIM:616564
HP:0001629	Ventricular septal defect	8216	LZTR1	OMIM:605275
HP:0001629	Ventricular septal defect	776	CACNA1D	OMIM:615474
HP:0001629	Ventricular septal defect	776	CACNA1D	ORPHA:369929
HP:0001629	Ventricular septal defect	91754	NEK9	OMIM:614262
HP:0001629	Ventricular septal defect	91754	NEK9	OMIM:617022
HP:0001629	Ventricular septal defect	4750	NEK1	OMIM:263520
HP:0001629	Ventricular septal defect	2132	EXT2	OMIM:616682
HP:0001629	Ventricular septal defect	1024	CDK8	OMIM:618748
HP:0001629	Ventricular septal defect	6659	SOX4	OMIM:618506
HP:0001629	Ventricular septal defect	6659	SOX4	ORPHA:1465
HP:0001629	Ventricular septal defect	6016	RIT1	OMIM:615355
HP:0001629	Ventricular septal defect	51126	NAA20	OMIM:619717
HP:0001629	Ventricular septal defect	2972	BRF1	OMIM:616202
HP:0001629	Ventricular septal defect	2972	BRF1	ORPHA:444072
HP:0001629	Ventricular septal defect	9231	DLG5	OMIM:620703
HP:0001629	Ventricular septal defect	81857	MED25	OMIM:616449
HP:0001629	Ventricular septal defect	81857	MED25	ORPHA:464738
HP:0001629	Ventricular septal defect	22800	RRAS2	OMIM:618624
HP:0001629	Ventricular septal defect	5927	KDM5A	OMIM:620820
HP:0001629	Ventricular septal defect	91801	ALKBH8	OMIM:618504
HP:0001629	Ventricular septal defect	1131	CHRM3	ORPHA:2970
HP:0001629	Ventricular septal defect	64220	STRA6	OMIM:601186
HP:0001629	Ventricular septal defect	55209	SETD5	ORPHA:404440
HP:0001629	Ventricular septal defect	3190	HNRNPK	ORPHA:453504
HP:0001629	Ventricular septal defect	3190	HNRNPK	ORPHA:352665
HP:0001629	Ventricular septal defect	10743	RAI1	ORPHA:477817
HP:0001629	Ventricular septal defect	197131	UBR1	OMIM:243800
HP:0001629	Ventricular septal defect	1855	DVL1	OMIM:616331
HP:0001629	Ventricular septal defect	55790	CSGALNACT1	OMIM:618870
HP:0001629	Ventricular septal defect	55790	CSGALNACT1	ORPHA:1425
HP:0001629	Ventricular septal defect	79639	TMEM53	OMIM:619727
HP:0001629	Ventricular septal defect	2201	FBN2	OMIM:121050
HP:0001629	Ventricular septal defect	23384	SPECC1L	ORPHA:1519
HP:0001629	Ventricular septal defect	23384	SPECC1L	OMIM:145420
HP:0001629	Ventricular septal defect	7086	TKT	ORPHA:488618
HP:0001629	Ventricular septal defect	7086	TKT	OMIM:617044
HP:0001629	Ventricular septal defect	5189	PEX1	OMIM:214100
HP:0001629	Ventricular septal defect	5189	PEX1	ORPHA:912
HP:0001629	Ventricular septal defect	2626	GATA4	OMIM:607941
HP:0001629	Ventricular septal defect	2626	GATA4	OMIM:614429
HP:0001629	Ventricular septal defect	284058	KANSL1	ORPHA:363958
HP:0001629	Ventricular septal defect	284058	KANSL1	OMIM:610443
HP:0001629	Ventricular septal defect	284058	KANSL1	ORPHA:363965
HP:0001629	Ventricular septal defect	25885	POLR1A	OMIM:616462
HP:0001629	Ventricular septal defect	83871	RAB34	OMIM:620718
HP:0001629	Ventricular septal defect	9469	CHST3	OMIM:143095
HP:0001629	Ventricular septal defect	7021	TFAP2B	ORPHA:46627
HP:0001629	Ventricular septal defect	54567	DLL4	OMIM:616589
HP:0001629	Ventricular septal defect	815	CAMK2A	OMIM:617798
HP:0001629	Ventricular septal defect	4853	NOTCH2	OMIM:102500
HP:0001629	Ventricular septal defect	4853	NOTCH2	ORPHA:955
HP:0001629	Ventricular septal defect	7994	KAT6A	ORPHA:457193
HP:0001629	Ventricular septal defect	7994	KAT6A	OMIM:616268
HP:0001629	Ventricular septal defect	64359	NXN	ORPHA:1507
HP:0001629	Ventricular septal defect	4920	ROR2	ORPHA:1507
HP:0001629	Ventricular septal defect	4920	ROR2	OMIM:113000
HP:0001629	Ventricular septal defect	2697	GJA1	ORPHA:2710
HP:0001629	Ventricular septal defect	4313	MMP2	ORPHA:371428
HP:0001629	Ventricular septal defect	4323	MMP14	ORPHA:371428
HP:0001629	Ventricular septal defect	5566	PRKACA	ORPHA:289
HP:0001629	Ventricular septal defect	5567	PRKACB	ORPHA:289
HP:0001629	Ventricular septal defect	2735	GLI1	ORPHA:289
HP:0001629	Ventricular septal defect	2121	EVC	ORPHA:289
HP:0001629	Ventricular septal defect	51626	DYNC2LI1	ORPHA:289
HP:0001629	Ventricular septal defect	132884	EVC2	ORPHA:289
HP:0001629	Ventricular septal defect	6926	TBX3	OMIM:181450
HP:0001629	Ventricular septal defect	6926	TBX3	ORPHA:3138
HP:0001629	Ventricular septal defect	4763	NF1	ORPHA:363700
HP:0001629	Ventricular septal defect	4763	NF1	OMIM:162200
HP:0001629	Ventricular septal defect	22884	WDR37	OMIM:618652
HP:0001629	Ventricular septal defect	7386	UQCRFS1	OMIM:618775
HP:0001629	Ventricular septal defect	64121	RRAGC	OMIM:620609
HP:0001629	Ventricular septal defect	23327	NEDD4L	OMIM:617201
HP:0001629	Ventricular septal defect	168507	PKD1L1	OMIM:617205
HP:0001629	Ventricular septal defect	93627	TBCK	ORPHA:488632
HP:0001629	Ventricular septal defect	2783	GNB2	OMIM:619503
HP:0001629	Ventricular septal defect	64132	XYLT2	ORPHA:85194
HP:0001629	Ventricular septal defect	11193	WBP4	OMIM:620852
HP:0001629	Ventricular septal defect	26834	RNU4-2	OMIM:620851
HP:0001629	Ventricular septal defect	4247	MGAT2	OMIM:212066
HP:0001629	Ventricular septal defect	4247	MGAT2	ORPHA:79329
HP:0001629	Ventricular septal defect	81794	ADAMTS10	OMIM:277600
HP:0001629	Ventricular septal defect	81794	ADAMTS10	ORPHA:3449
HP:0001629	Ventricular septal defect	3476	IGBP1	ORPHA:52055
HP:0001629	Ventricular septal defect	3476	IGBP1	OMIM:300472
HP:0001629	Ventricular septal defect	5337	PLD1	OMIM:212093
HP:0001629	Ventricular septal defect	8493	PPM1D	OMIM:617450
HP:0001629	Ventricular septal defect	56006	SMG9	OMIM:619995
HP:0001629	Ventricular septal defect	56006	SMG9	OMIM:616920
HP:0001629	Ventricular septal defect	54539	NDUFB11	OMIM:309801
HP:0001629	Ventricular septal defect	1349	COX7B	OMIM:309801
HP:0001629	Ventricular septal defect	3052	HCCS	OMIM:309801
HP:0001629	Ventricular septal defect	54914	FOCAD	OMIM:619991
HP:0001629	Ventricular septal defect	51633	OTUD6B	OMIM:617452
HP:0001629	Ventricular septal defect	51633	OTUD6B	ORPHA:505237
HP:0001629	Ventricular septal defect	4613	MYCN	OMIM:620748
HP:0001629	Ventricular septal defect	4613	MYCN	OMIM:164280
HP:0001629	Ventricular septal defect	27125	AFF4	OMIM:616368
HP:0001629	Ventricular septal defect	27125	AFF4	ORPHA:444077
HP:0001629	Ventricular septal defect	5604	MAP2K1	OMIM:615279
HP:0001629	Ventricular septal defect	5604	MAP2K1	OMIM:163950
HP:0001629	Ventricular septal defect	150468	CKAP2L	OMIM:272440
HP:0001629	Ventricular septal defect	150468	CKAP2L	ORPHA:3255
HP:0001629	Ventricular septal defect	6899	TBX1	ORPHA:1727
HP:0001629	Ventricular septal defect	6899	TBX1	OMIM:192430
HP:0001629	Ventricular septal defect	6899	TBX1	ORPHA:567
HP:0001629	Ventricular septal defect	6899	TBX1	ORPHA:3384
HP:0001629	Ventricular septal defect	6899	TBX1	OMIM:188400
HP:0001629	Ventricular septal defect	6134	RPL10	ORPHA:459070
HP:0001629	Ventricular septal defect	6134	RPL10	OMIM:300998
HP:0001629	Ventricular septal defect	415	ARSL	ORPHA:79345
HP:0001629	Ventricular septal defect	1859	DYRK1A	ORPHA:464311
HP:0001629	Ventricular septal defect	1859	DYRK1A	ORPHA:268261
HP:0001629	Ventricular septal defect	79796	ALG9	ORPHA:79328
HP:0001629	Ventricular septal defect	8314	BAP1	OMIM:619762
HP:0001629	Ventricular septal defect	7750	ZMYM2	OMIM:619522
HP:0001629	Ventricular septal defect	9158	FIBP	OMIM:617107
HP:0001629	Ventricular septal defect	9158	FIBP	ORPHA:500095
HP:0001629	Ventricular septal defect	200424	TET3	OMIM:618798
HP:0001629	Ventricular septal defect	2542	SLC37A4	OMIM:619525
HP:0001629	Ventricular septal defect	9772	TMEM94	OMIM:618316
HP:0001629	Ventricular septal defect	57466	SCAF4	OMIM:620511
HP:0001629	Ventricular septal defect	54487	DGCR8	OMIM:192430
HP:0001629	Ventricular septal defect	8214	DGCR6	OMIM:192430
HP:0001629	Ventricular septal defect	8220	ESS2	OMIM:192430
HP:0001629	Ventricular septal defect	9993	DGCR2	OMIM:192430
HP:0001629	Ventricular septal defect	51341	ZBTB7A	OMIM:619769
HP:0001629	Ventricular septal defect	79728	PALB2	OMIM:610832
HP:0001629	Ventricular septal defect	9968	MED12	OMIM:301068
HP:0001629	Ventricular septal defect	9968	MED12	OMIM:309520
HP:0001629	Ventricular septal defect	4621	MYH3	OMIM:178110
HP:0001629	Ventricular septal defect	775	CACNA1C	OMIM:601005
HP:0001629	Ventricular septal defect	2239	GPC4	ORPHA:373
HP:0001629	Ventricular septal defect	2239	GPC4	OMIM:312870
HP:0001629	Ventricular septal defect	2719	GPC3	ORPHA:373
HP:0001629	Ventricular septal defect	2719	GPC3	OMIM:312870
HP:0001629	Ventricular septal defect	23007	PLCH1	OMIM:619895
HP:0001629	Ventricular septal defect	79989	IFT56	OMIM:619534
HP:0001629	Ventricular septal defect	23483	TGDS	OMIM:616145
HP:0001629	Ventricular septal defect	23483	TGDS	ORPHA:1388
HP:0001629	Ventricular septal defect	10848	PPP1R13L	OMIM:620519
HP:0001629	Ventricular septal defect	285203	EOGT	OMIM:615297
HP:0001629	Ventricular septal defect	8565	YARS1	OMIM:619418
HP:0001629	Ventricular septal defect	54916	TMEM260	OMIM:617478
HP:0001629	Ventricular septal defect	25836	NIPBL	OMIM:122470
HP:0001629	Ventricular septal defect	25836	NIPBL	ORPHA:199
HP:0001629	Ventricular septal defect	23499	MACF1	OMIM:618325
HP:0001629	Ventricular septal defect	3930	LBR	OMIM:169400
HP:0001629	Ventricular septal defect	4087	SMAD2	OMIM:619657
HP:0001629	Ventricular septal defect	404672	GTF2H5	ORPHA:33364
HP:0001629	Ventricular septal defect	833	CARS1	ORPHA:33364
HP:0001629	Ventricular septal defect	2068	ERCC2	ORPHA:33364
HP:0001629	Ventricular septal defect	7737	RNF113A	ORPHA:33364
HP:0001629	Ventricular septal defect	136647	MPLKIP	ORPHA:33364
HP:0001629	Ventricular septal defect	136647	MPLKIP	OMIM:234050
HP:0001629	Ventricular septal defect	6897	TARS1	ORPHA:33364
HP:0001629	Ventricular septal defect	16	AARS1	ORPHA:33364
HP:0001629	Ventricular septal defect	2071	ERCC3	ORPHA:33364
HP:0001629	Ventricular septal defect	2961	GTF2E2	ORPHA:33364
HP:0001629	Ventricular septal defect	54361	WNT4	OMIM:611812
HP:0001629	Ventricular septal defect	54361	WNT4	ORPHA:139466
HP:0001629	Ventricular septal defect	286204	CRB2	OMIM:219730
HP:0001629	Ventricular septal defect	9896	FIG4	OMIM:216340
HP:0001629	Ventricular septal defect	9896	FIG4	ORPHA:3472
HP:0001629	Ventricular septal defect	6138	RPL15	ORPHA:124
HP:0001629	Ventricular septal defect	6138	RPL15	OMIM:615550
HP:0001629	Ventricular septal defect	6224	RPS20	ORPHA:124
HP:0001629	Ventricular septal defect	6165	RPL35A	ORPHA:124
HP:0001629	Ventricular septal defect	6165	RPL35A	OMIM:612528
HP:0001629	Ventricular septal defect	6132	RPL8	ORPHA:124
HP:0001629	Ventricular septal defect	6223	RPS19	ORPHA:124
HP:0001629	Ventricular septal defect	6223	RPS19	OMIM:105650
HP:0001629	Ventricular septal defect	6232	RPS27	ORPHA:124
HP:0001629	Ventricular septal defect	55027	HEATR3	ORPHA:124
HP:0001629	Ventricular septal defect	6160	RPL31	ORPHA:124
HP:0001629	Ventricular septal defect	6201	RPS7	ORPHA:124
HP:0001629	Ventricular septal defect	6155	RPL27	ORPHA:124
HP:0001629	Ventricular septal defect	6234	RPS28	ORPHA:124
HP:0001629	Ventricular septal defect	6135	RPL11	ORPHA:124
HP:0001629	Ventricular septal defect	6135	RPL11	OMIM:612562
HP:0001629	Ventricular septal defect	6229	RPS24	ORPHA:124
HP:0001629	Ventricular septal defect	6125	RPL5	ORPHA:124
HP:0001629	Ventricular septal defect	6125	RPL5	OMIM:612561
HP:0001629	Ventricular septal defect	6204	RPS10	ORPHA:124
HP:0001629	Ventricular septal defect	2623	GATA1	ORPHA:124
HP:0001629	Ventricular septal defect	6133	RPL9	ORPHA:124
HP:0001629	Ventricular septal defect	6231	RPS26	ORPHA:124
HP:0001629	Ventricular septal defect	6231	RPS26	OMIM:613309
HP:0001629	Ventricular septal defect	11224	RPL35	ORPHA:124
HP:0001629	Ventricular septal defect	6218	RPS17	ORPHA:124
HP:0001629	Ventricular septal defect	6154	RPL26	ORPHA:124
HP:0001629	Ventricular septal defect	6210	RPS15A	ORPHA:124
HP:0001629	Ventricular septal defect	90121	TSR2	ORPHA:124
HP:0001629	Ventricular septal defect	6141	RPL18	ORPHA:124
HP:0001629	Ventricular septal defect	6235	RPS29	ORPHA:124
HP:0001629	Ventricular septal defect	51816	ADA2	ORPHA:124
HP:0001629	Ventricular septal defect	6261	RYR1	OMIM:619542
HP:0001629	Ventricular septal defect	8295	TRRAP	OMIM:618454
HP:0001629	Ventricular septal defect	8621	CDK13	OMIM:617360
HP:0001629	Ventricular septal defect	93233	ODAD1	OMIM:615067
HP:0001629	Ventricular septal defect	1892	ECHS1	OMIM:616277
HP:0001629	Ventricular septal defect	51117	COQ4	OMIM:616276
HP:0001629	Ventricular septal defect	1523	CUX1	OMIM:618330
HP:0001629	Ventricular septal defect	4212	MEIS2	ORPHA:261190
HP:0001629	Ventricular septal defect	4212	MEIS2	OMIM:600987
HP:0001629	Ventricular septal defect	115948	ODAD3	OMIM:616037
HP:0001629	Ventricular septal defect	5908	RAP1B	OMIM:620654
HP:0001629	Ventricular septal defect	55770	EXOC2	OMIM:619306
HP:0001629	Ventricular septal defect	27145	FILIP1	OMIM:620775
HP:0001629	Ventricular septal defect	6654	SOS1	OMIM:610733
HP:0001629	Ventricular septal defect	6792	CDKL5	ORPHA:1934
HP:0001629	Ventricular septal defect	3736	KCNA1	ORPHA:1934
HP:0001629	Ventricular septal defect	9091	PIGQ	ORPHA:1934
HP:0001629	Ventricular septal defect	140679	SLC32A1	ORPHA:1934
HP:0001629	Ventricular septal defect	2775	GNAO1	ORPHA:1934
HP:0001629	Ventricular septal defect	81603	TRIM8	ORPHA:1934
HP:0001629	Ventricular septal defect	2902	GRIN1	ORPHA:1934
HP:0001629	Ventricular septal defect	79751	SLC25A22	ORPHA:1934
HP:0001629	Ventricular septal defect	150094	SIK1	ORPHA:1934
HP:0001629	Ventricular septal defect	8573	CASK	ORPHA:1934
HP:0001629	Ventricular septal defect	23312	DMXL2	ORPHA:1934
HP:0001629	Ventricular septal defect	2917	GRM7	ORPHA:1934
HP:0001629	Ventricular septal defect	170302	ARX	ORPHA:1934
HP:0001629	Ventricular septal defect	170302	ARX	ORPHA:452
HP:0001629	Ventricular septal defect	11284	PNKP	ORPHA:1934
HP:0001629	Ventricular septal defect	6326	SCN2A	ORPHA:1934
HP:0001629	Ventricular septal defect	51227	PIGP	ORPHA:1934
HP:0001629	Ventricular septal defect	6324	SCN1B	ORPHA:1934
HP:0001629	Ventricular septal defect	4761	NEUROD2	ORPHA:1934
HP:0001629	Ventricular septal defect	7080	NKX2-1	OMIM:610978
HP:0001629	Ventricular septal defect	7080	NKX2-1	ORPHA:209905
HP:0001629	Ventricular septal defect	2263	FGFR2	OMIM:101200
HP:0001629	Ventricular septal defect	2737	GLI3	ORPHA:672
HP:0001629	Ventricular septal defect	2737	GLI3	OMIM:146510
HP:0001629	Ventricular septal defect	9361	LONP1	OMIM:600373
HP:0001629	Ventricular septal defect	9361	LONP1	ORPHA:79243
HP:0001629	Ventricular septal defect	9361	LONP1	ORPHA:1458
HP:0001629	Ventricular septal defect	22827	PUF60	ORPHA:508498
HP:0001629	Ventricular septal defect	22827	PUF60	ORPHA:508488
HP:0001629	Ventricular septal defect	22827	PUF60	OMIM:615583
HP:0001629	Ventricular septal defect	388015	RTL1	ORPHA:254534
HP:0001629	Ventricular septal defect	388015	RTL1	ORPHA:96334
HP:0001629	Ventricular septal defect	8788	DLK1	ORPHA:254534
HP:0001629	Ventricular septal defect	8788	DLK1	ORPHA:96334
HP:0001629	Ventricular septal defect	55384	MEG3	ORPHA:254534
HP:0001629	Ventricular septal defect	55384	MEG3	ORPHA:96334
HP:0001629	Ventricular septal defect	23013	SPEN	OMIM:619312
HP:0001629	Ventricular septal defect	123606	NIPA1	ORPHA:261183
HP:0001629	Ventricular septal defect	7283	TUBG1	ORPHA:261183
HP:0001629	Ventricular septal defect	81614	NIPA2	ORPHA:261183
HP:0001629	Ventricular septal defect	2187	FANCB	OMIM:300514
HP:0001629	Ventricular septal defect	23314	SATB2	ORPHA:251028
HP:0001629	Ventricular septal defect	57122	NUP107	OMIM:618348
HP:0001629	Ventricular septal defect	57122	NUP107	OMIM:616730
HP:0001629	Ventricular septal defect	90459	ERI1	OMIM:620663
HP:0001629	Ventricular septal defect	4838	NODAL	OMIM:270100
HP:0001629	Ventricular septal defect	2627	GATA6	OMIM:600001
HP:0001629	Ventricular septal defect	2627	GATA6	ORPHA:2255
HP:0001629	Ventricular septal defect	55315	SLC29A3	OMIM:602782
HP:0001629	Ventricular septal defect	55315	SLC29A3	ORPHA:1782
HP:0001629	Ventricular septal defect	6299	SALL1	OMIM:107480
HP:0001629	Ventricular septal defect	7490	WT1	ORPHA:3097
HP:0001629	Ventricular septal defect	7490	WT1	OMIM:608978
HP:0001629	Ventricular septal defect	1387	CREBBP	ORPHA:353281
HP:0001629	Ventricular septal defect	1387	CREBBP	OMIM:180849
HP:0001629	Ventricular septal defect	1387	CREBBP	ORPHA:353277
HP:0001629	Ventricular septal defect	23395	LARS2	OMIM:617021
HP:0001629	Ventricular septal defect	6651	SON	OMIM:617140
HP:0001629	Ventricular septal defect	55215	FANCI	OMIM:609053
HP:0001629	Ventricular septal defect	8312	AXIN1	OMIM:620558
HP:0001629	Ventricular septal defect	2033	EP300	ORPHA:353284
HP:0001629	Ventricular septal defect	2033	EP300	OMIM:180849
HP:0001629	Ventricular septal defect	4041	LRP5	OMIM:259770
HP:0001629	Ventricular septal defect	9126	SMC3	OMIM:610759
HP:0001629	Ventricular septal defect	9126	SMC3	ORPHA:199
HP:0001629	Ventricular septal defect	79068	FTO	OMIM:612938
HP:0001629	Ventricular septal defect	8626	TP63	OMIM:106260
HP:0001629	Ventricular septal defect	473	RERE	ORPHA:494344
HP:0001629	Ventricular septal defect	473	RERE	OMIM:616975
HP:0001629	Ventricular septal defect	4784	NFIX	OMIM:602535
HP:0001629	Ventricular septal defect	4784	NFIX	ORPHA:447980
HP:0001629	Ventricular septal defect	57551	TAOK1	OMIM:619575
HP:0001629	Ventricular septal defect	8260	NAA10	OMIM:300855
HP:0001629	Ventricular septal defect	8260	NAA10	ORPHA:276432
HP:0001629	Ventricular septal defect	10082	GPC6	OMIM:258315
HP:0001629	Ventricular septal defect	1108	CHD4	OMIM:617159
HP:0001629	Ventricular septal defect	23476	BRD4	OMIM:620568
HP:0001629	Ventricular septal defect	23476	BRD4	ORPHA:199
HP:0001629	Ventricular septal defect	23389	MED13L	ORPHA:369891
HP:0001629	Ventricular septal defect	1312	COMT	ORPHA:567
HP:0001629	Ventricular septal defect	221037	JMJD1C	ORPHA:567
HP:0001629	Ventricular septal defect	2812	GP1BB	ORPHA:567
HP:0001629	Ventricular septal defect	6239	RREB1	ORPHA:567
HP:0001629	Ventricular septal defect	7290	HIRA	ORPHA:567
HP:0001629	Ventricular septal defect	9632	SEC24C	ORPHA:567
HP:0001629	Ventricular septal defect	7353	UFD1	ORPHA:567
HP:0001629	Ventricular septal defect	421	ARVCF	ORPHA:567
HP:0001629	Ventricular septal defect	3265	HRAS	ORPHA:3071
HP:0001629	Ventricular septal defect	3265	HRAS	OMIM:218040
HP:0001629	Ventricular septal defect	26276	VPS33B	OMIM:208085
HP:0001629	Ventricular septal defect	10524	KAT5	OMIM:619103
HP:0001629	Ventricular septal defect	372	ARCN1	OMIM:617164
HP:0001629	Ventricular septal defect	1822	ATN1	OMIM:618494
HP:0001629	Ventricular septal defect	6304	SATB1	OMIM:619229
HP:0001629	Ventricular septal defect	6811	STX5	OMIM:620454
HP:0001629	Ventricular septal defect	4990	SIX6	OMIM:206900
HP:0001629	Ventricular septal defect	6657	SOX2	OMIM:206900
HP:0001629	Ventricular septal defect	6657	SOX2	ORPHA:77298
HP:0001629	Ventricular septal defect	8883	NAE1	OMIM:620210
HP:0001629	Ventricular septal defect	9343	EFTUD2	OMIM:610536
HP:0001629	Ventricular septal defect	64864	RFX7	OMIM:620330
HP:0001629	Ventricular septal defect	164781	DAW1	OMIM:620570
HP:0001629	Ventricular septal defect	57003	CCDC47	OMIM:618268
HP:0001629	Ventricular septal defect	5977	DPF2	OMIM:618027
HP:0001629	Ventricular septal defect	5977	DPF2	ORPHA:1465
HP:0001629	Ventricular septal defect	57061	HYMAI	ORPHA:96191
HP:0001629	Ventricular septal defect	5325	PLAGL1	ORPHA:96191
HP:0001629	Ventricular septal defect	10526	IPO8	OMIM:619472
HP:0001629	Ventricular septal defect	64840	PORCN	ORPHA:2092
HP:0001629	Ventricular septal defect	348180	CTU2	OMIM:618142
HP:0001629	Ventricular septal defect	340419	RSPO2	OMIM:618021
HP:0001629	Ventricular septal defect	145173	B3GLCT	OMIM:261540
HP:0001629	Ventricular septal defect	6711	SPTBN1	OMIM:619475
HP:0001629	Ventricular septal defect	26005	C2CD3	ORPHA:434179
HP:0001629	Ventricular septal defect	26005	C2CD3	OMIM:615948
HP:0001629	Ventricular septal defect	57514	ARHGAP31	OMIM:100300
HP:0001629	Ventricular septal defect	10283	CWC27	OMIM:250410
HP:0001629	Ventricular septal defect	10283	CWC27	ORPHA:166035
HP:0001629	Ventricular septal defect	2006	ELN	OMIM:123700
HP:0001629	Ventricular septal defect	2006	ELN	ORPHA:904
HP:0001629	Ventricular septal defect	2006	ELN	OMIM:194050
HP:0001629	Ventricular septal defect	7204	TRIO	OMIM:617061
HP:0001629	Ventricular septal defect	5290	PIK3CA	OMIM:602501
HP:0001629	Ventricular septal defect	285590	SH3PXD2B	OMIM:249420
HP:0001629	Ventricular septal defect	374879	ZNF699	OMIM:619488
HP:0001629	Ventricular septal defect	4841	NONO	OMIM:300967
HP:0001629	Ventricular septal defect	4841	NONO	ORPHA:466791
HP:0001629	Ventricular septal defect	51715	RAB23	OMIM:201000
HP:0001629	Ventricular septal defect	8318	CDC45	OMIM:617063
HP:0001629	Ventricular septal defect	29123	ANKRD11	ORPHA:261250
HP:0001629	Ventricular septal defect	28952	CCDC22	OMIM:300963
HP:0001629	Ventricular septal defect	28952	CCDC22	ORPHA:7
HP:0001629	Ventricular septal defect	90416	CCDC32	OMIM:619123
HP:0001629	Ventricular septal defect	118924	FRA10AC1	OMIM:620113
HP:0001629	Ventricular septal defect	4222	MEOX1	OMIM:214300
HP:0001629	Ventricular septal defect	4222	MEOX1	ORPHA:2345
HP:0001629	Ventricular septal defect	407975	MIR17HG	ORPHA:391646
HP:0001629	Ventricular septal defect	126792	B3GALT6	OMIM:271640
HP:0001629	Ventricular septal defect	745	MYRF	OMIM:618280
HP:0001629	Ventricular septal defect	10084	PQBP1	OMIM:309500
HP:0001629	Ventricular septal defect	2176	FANCC	OMIM:227645
HP:0001629	Ventricular septal defect	4256	MGP	OMIM:245150
HP:0001629	Ventricular septal defect	4256	MGP	ORPHA:85202
HP:0001629	Ventricular septal defect	5528	PPP2R5D	ORPHA:457279
HP:0001629	Ventricular septal defect	84231	TRAF7	OMIM:618164
HP:0001629	Ventricular septal defect	9487	PIGL	OMIM:280000
HP:0001629	Ventricular septal defect	9487	PIGL	ORPHA:3474
HP:0001629	Ventricular septal defect	5236	PGM1	OMIM:614921
HP:0001629	Ventricular septal defect	5297	PI4KA	ORPHA:436252
HP:0001629	Ventricular septal defect	57217	TTC7A	ORPHA:436252
HP:0001629	Ventricular septal defect	57217	TTC7A	OMIM:243150
HP:0001629	Ventricular septal defect	3643	INSR	ORPHA:769
HP:0001629	Ventricular septal defect	23522	KAT6B	ORPHA:3047
HP:0001629	Ventricular septal defect	23522	KAT6B	OMIM:606170
HP:0001629	Ventricular septal defect	219844	HYLS1	OMIM:236680
HP:0001629	Ventricular septal defect	9897	WASHC5	ORPHA:7
HP:0001629	Ventricular septal defect	9897	WASHC5	OMIM:220210
HP:0001629	Ventricular septal defect	57020	VPS35L	ORPHA:7
HP:0001629	Ventricular septal defect	56896	DPYSL5	ORPHA:7
HP:0001629	Ventricular septal defect	55181	SMG8	OMIM:619268
HP:0001629	Ventricular septal defect	9652	SKIC3	ORPHA:84064
HP:0001629	Ventricular septal defect	9652	SKIC3	OMIM:222470
HP:0001629	Ventricular septal defect	6499	SKIC2	ORPHA:84064
HP:0001629	Ventricular septal defect	26123	TCTN3	OMIM:614815
HP:0001629	Ventricular septal defect	3480	IGF1R	OMIM:270450
HP:0001629	Ventricular septal defect	8085	KMT2D	OMIM:147920
HP:0001629	Ventricular septal defect	7403	KDM6A	OMIM:147920
HP:0001629	Ventricular septal defect	2294	FOXF1	OMIM:265380
HP:0001629	Ventricular septal defect	2294	FOXF1	ORPHA:210122
HP:0001629	Ventricular septal defect	137814	NKX2-6	ORPHA:3384
HP:0001629	Ventricular septal defect	23129	PLXND1	ORPHA:3384
HP:0001629	Ventricular septal defect	10262	SF3B4	OMIM:154400
HP:0001629	Ventricular septal defect	894	CCND2	ORPHA:83473
HP:0001629	Ventricular septal defect	5296	PIK3R2	ORPHA:83473
HP:0001629	Ventricular septal defect	5296	PIK3R2	OMIM:603387
HP:0001629	Ventricular septal defect	10000	AKT3	ORPHA:83473
HP:0001629	Ventricular septal defect	23241	PACS2	OMIM:618067
HP:0001629	Ventricular septal defect	26128	KIFBP	OMIM:609460
HP:0001629	Ventricular septal defect	83700	JAM3	OMIM:613730
HP:0001629	Ventricular septal defect	2657	GDF1	OMIM:613854
HP:0001629	Ventricular septal defect	2657	GDF1	OMIM:208530
HP:0001629	Ventricular septal defect	123263	MTFMT	OMIM:614947
HP:0001629	Ventricular septal defect	8854	ALDH1A2	OMIM:620025
HP:0001629	Ventricular septal defect	10992	SF3B2	OMIM:164210
HP:0001629	Ventricular septal defect	8496	PPFIBP1	OMIM:620024
HP:0001629	Ventricular septal defect	9839	ZEB2	OMIM:235730
HP:0001629	Ventricular septal defect	9839	ZEB2	ORPHA:261552
HP:0001629	Ventricular septal defect	64324	NSD1	ORPHA:821
HP:0001629	Ventricular septal defect	64324	NSD1	OMIM:117550
HP:0001629	Ventricular septal defect	10297	APC2	ORPHA:821
HP:0001629	Ventricular septal defect	4281	MID1	OMIM:300000
HP:0001629	Ventricular septal defect	4281	MID1	ORPHA:2745
HP:0001629	Ventricular septal defect	80232	WDR26	ORPHA:513456
HP:0001629	Ventricular septal defect	80232	WDR26	OMIM:617616
HP:0001629	Ventricular septal defect	613	BCR	ORPHA:261330
HP:0001629	Ventricular septal defect	1399	CRKL	ORPHA:261330
HP:0001629	Ventricular septal defect	5594	MAPK1	ORPHA:261330
HP:0001629	Ventricular septal defect	89910	UBE3B	OMIM:244450
HP:0001629	Ventricular septal defect	55249	YY1AP1	ORPHA:79094
HP:0001629	Ventricular septal defect	1717	DHCR7	ORPHA:818
HP:0001629	Ventricular septal defect	1717	DHCR7	OMIM:270400
HP:0001629	Ventricular septal defect	10225	CD96	OMIM:211750
HP:0001629	Ventricular septal defect	7175	TPR	OMIM:620393
HP:0001629	Ventricular septal defect	57492	ARID1B	OMIM:135900
HP:0001629	Ventricular septal defect	57492	ARID1B	ORPHA:1465
HP:0001629	Ventricular septal defect	5119	CHMP1A	OMIM:614961
HP:0001629	Ventricular septal defect	1889	ECE1	OMIM:613870
HP:0001629	Ventricular septal defect	93	ACVR2B	OMIM:613751
HP:0001629	Ventricular septal defect	1801	DPH1	OMIM:616901
HP:0001629	Ventricular septal defect	8772	FADD	OMIM:613759
HP:0001629	Ventricular septal defect	8772	FADD	ORPHA:306550
HP:0001629	Ventricular septal defect	6597	SMARCA4	OMIM:614609
HP:0001629	Ventricular septal defect	6597	SMARCA4	ORPHA:1465
HP:0001629	Ventricular septal defect	55697	VAC14	ORPHA:3472
HP:0001629	Ventricular septal defect	6885	MAP3K7	OMIM:157800
HP:0001629	Ventricular septal defect	55148	UBR7	OMIM:619189
HP:0001629	Ventricular septal defect	79813	EHMT1	OMIM:610253
HP:0001629	Ventricular septal defect	55636	CHD7	OMIM:214800
HP:0001629	Ventricular septal defect	63894	VIPAS39	OMIM:613404
HP:0001629	Ventricular septal defect	4036	LRP2	ORPHA:2143
HP:0001629	Ventricular septal defect	4036	LRP2	OMIM:222448
HP:0001629	Ventricular septal defect	7468	NSD2	OMIM:194190
HP:0001629	Ventricular septal defect	10815	CPLX1	OMIM:194190
HP:0001629	Ventricular septal defect	1487	CTBP1	OMIM:194190
HP:0001629	Ventricular septal defect	53834	FGFRL1	OMIM:194190
HP:0001629	Ventricular septal defect	3954	LETM1	OMIM:194190
HP:0001629	Ventricular septal defect	26227	PHGDH	OMIM:256520
HP:0001629	Ventricular septal defect	23118	TAB2	OMIM:614980
HP:0001629	Ventricular septal defect	4519	MT-CYB	ORPHA:137675
HP:0001629	Ventricular septal defect	5828	PEX2	OMIM:614866
HP:0001629	Ventricular septal defect	5828	PEX2	ORPHA:912
HP:0001629	Ventricular septal defect	6804	STX1A	ORPHA:904
HP:0001629	Ventricular septal defect	7461	CLIP2	ORPHA:904
HP:0001629	Ventricular septal defect	84277	DNAJC30	ORPHA:904
HP:0001629	Ventricular septal defect	8468	FKBP6	ORPHA:904
HP:0001629	Ventricular septal defect	5982	RFC2	ORPHA:904
HP:0001629	Ventricular septal defect	2969	GTF2I	ORPHA:904
HP:0001629	Ventricular septal defect	3984	LIMK1	ORPHA:904
HP:0001629	Ventricular septal defect	9569	GTF2IRD1	ORPHA:904
HP:0001629	Ventricular septal defect	155382	VPS37D	ORPHA:904
HP:0001629	Ventricular septal defect	155368	METTL27	ORPHA:904
HP:0001629	Ventricular septal defect	114049	BUD23	ORPHA:904
HP:0001629	Ventricular septal defect	7458	EIF4H	ORPHA:904
HP:0001629	Ventricular septal defect	84163	GTF2IRD2	ORPHA:904
HP:0001629	Ventricular septal defect	26608	TBL2	ORPHA:904
HP:0001629	Ventricular septal defect	653361	NCF1	ORPHA:904
HP:0001629	Ventricular septal defect	135886	TMEM270	ORPHA:904
HP:0001629	Ventricular septal defect	9031	BAZ1B	ORPHA:904
HP:0001629	Ventricular septal defect	83475	DOHH	OMIM:620066
HP:0001629	Ventricular septal defect	55719	SLF2	OMIM:620184
HP:0001629	Ventricular septal defect	10907	TXNL4A	OMIM:608572
HP:0001629	Ventricular septal defect	6558	SLC12A2	OMIM:619083
HP:0001629	Ventricular septal defect	10236	HNRNPR	OMIM:620073
HP:0001629	Ventricular septal defect	2200	FBN1	OMIM:608328
HP:0001629	Ventricular septal defect	2200	FBN1	ORPHA:3449
HP:0001629	Ventricular septal defect	6628	SNRPB	ORPHA:1393
HP:0001629	Ventricular septal defect	6628	SNRPB	OMIM:117650
HP:0001629	Ventricular septal defect	4089	SMAD4	OMIM:139210
HP:0001629	Ventricular septal defect	182	JAG1	OMIM:118450
HP:0001629	Ventricular septal defect	182	JAG1	OMIM:617992
HP:0001629	Ventricular septal defect	9409	PEX16	OMIM:614876
HP:0001629	Ventricular septal defect	9409	PEX16	ORPHA:912
HP:0001629	Ventricular septal defect	51244	CCDC174	OMIM:616816
HP:0001629	Ventricular septal defect	2065	ERBB3	OMIM:607598
HP:0001629	Ventricular septal defect	51085	MLXIPL	OMIM:194050
HP:0001629	Ventricular septal defect	51322	WAC	ORPHA:284169
HP:0001629	Ventricular septal defect	10324	KLHL41	OMIM:615731
HP:0001629	Ventricular septal defect	170691	ADAMTS17	ORPHA:3449
HP:0001629	Ventricular septal defect	4053	LTBP2	ORPHA:3449
HP:0001629	Ventricular septal defect	80184	CEP290	OMIM:611134
HP:0001629	Ventricular septal defect	140628	GATA5	OMIM:617912
HP:0001629	Ventricular septal defect	8195	MKKS	ORPHA:2473
HP:0001629	Ventricular septal defect	147372	CCBE1	OMIM:235510
HP:0001629	Ventricular septal defect	4851	NOTCH1	OMIM:109730
HP:0001629	Ventricular septal defect	157570	ESCO2	OMIM:268300
HP:0001629	Ventricular septal defect	171023	ASXL1	OMIM:605039
HP:0001629	Ventricular septal defect	2317	FLNB	OMIM:150250
HP:0001629	Ventricular septal defect	79228	THOC6	OMIM:613680
HP:0001629	Ventricular septal defect	2303	FOXC2	OMIM:153400
HP:0001629	Ventricular septal defect	667	DST	OMIM:614653
HP:0001629	Ventricular septal defect	9573	GDF3	ORPHA:2345
HP:0001629	Ventricular septal defect	392255	GDF6	ORPHA:2345
HP:0001629	Ventricular septal defect	55690	PACS1	ORPHA:329224
HP:0001629	Ventricular septal defect	7319	UBE2A	ORPHA:163956
HP:0001629	Ventricular septal defect	10664	CTCF	OMIM:615502
HP:0001629	Ventricular septal defect	55112	DYNC2I1	OMIM:615503
HP:0001629	Ventricular septal defect	63895	PIEZO2	ORPHA:2461
HP:0001629	Ventricular septal defect	55670	PEX26	ORPHA:912
HP:0001629	Ventricular septal defect	5824	PEX19	ORPHA:912
HP:0001629	Ventricular septal defect	8504	PEX3	ORPHA:912
HP:0001629	Ventricular septal defect	8799	PEX11B	ORPHA:912
HP:0001629	Ventricular septal defect	5190	PEX6	ORPHA:912
HP:0001629	Ventricular septal defect	5830	PEX5	ORPHA:912
HP:0001629	Ventricular septal defect	5193	PEX12	ORPHA:912
HP:0001629	Ventricular septal defect	5194	PEX13	ORPHA:912
HP:0001629	Ventricular septal defect	5195	PEX14	ORPHA:912
HP:0001629	Ventricular septal defect	5192	PEX10	ORPHA:912
HP:0001629	Ventricular septal defect	6888	TALDO1	OMIM:606003
HP:0001629	Ventricular septal defect	10735	STAG2	OMIM:301043
HP:0001629	Ventricular septal defect	8243	SMC1A	OMIM:301044
HP:0001629	Ventricular septal defect	8243	SMC1A	ORPHA:199
HP:0001629	Ventricular septal defect	7026	NR2F2	OMIM:618901
HP:0001629	Ventricular septal defect	7026	NR2F2	OMIM:615779
HP:0001629	Ventricular septal defect	11020	IFT27	OMIM:615996
HP:0001629	Ventricular septal defect	100151683	RNU4ATAC	OMIM:210710
HP:0001629	Ventricular septal defect	100151683	RNU4ATAC	OMIM:616651
HP:0001629	Ventricular septal defect	5648	MASP1	OMIM:257920
HP:0001629	Ventricular septal defect	26160	IFT172	OMIM:615630
HP:0001629	Ventricular septal defect	1788	DNMT3A	OMIM:615879
HP:0001629	Ventricular septal defect	65062	TMEM237	OMIM:614424
HP:0001629	Ventricular septal defect	85358	SHANK3	OMIM:606232
HP:0001629	Ventricular septal defect	1482	NKX2-5	OMIM:108900
HP:0001629	Ventricular septal defect	1482	NKX2-5	OMIM:614432
HP:0001629	Ventricular septal defect	1482	NKX2-5	OMIM:614435
HP:0001629	Ventricular septal defect	546	ATRX	OMIM:301040
HP:0001629	Ventricular septal defect	57167	SALL4	OMIM:607323
HP:0001629	Ventricular septal defect	55593	OTUD5	OMIM:301056
HP:0001629	Ventricular septal defect	1837	DTNA	OMIM:604169
HP:0001629	Ventricular septal defect	57465	TBC1D24	OMIM:220500
HP:0001629	Ventricular septal defect	4854	NOTCH3	OMIM:130720
HP:0001629	Ventricular septal defect	4854	NOTCH3	ORPHA:2789
HP:0001629	Ventricular septal defect	83479	DDX59	OMIM:174300
HP:0001629	Ventricular septal defect	10560	SLC19A2	ORPHA:49827
HP:0001629	Ventricular septal defect	10560	SLC19A2	OMIM:249270
HP:0001629	Ventricular septal defect	5915	RARB	OMIM:615524
HP:0001629	Ventricular septal defect	5053	PAH	ORPHA:2209
HP:0001629	Ventricular septal defect	7547	ZIC3	OMIM:306955
HP:0001629	Ventricular septal defect	6598	SMARCB1	ORPHA:1465
HP:0001629	Ventricular septal defect	8289	ARID1A	ORPHA:1465
HP:0001629	Ventricular septal defect	6601	SMARCC2	ORPHA:1465
HP:0001629	Ventricular septal defect	6602	SMARCD1	ORPHA:1465
HP:0001629	Ventricular septal defect	196528	ARID2	ORPHA:1465
HP:0001629	Ventricular septal defect	6605	SMARCE1	ORPHA:1465
HP:0001629	Ventricular septal defect	6664	SOX11	ORPHA:1465
HP:0001629	Ventricular septal defect	5160	PDHA1	ORPHA:79243
HP:0001629	Ventricular septal defect	6606	SMN1	OMIM:253300
HP:0001629	Ventricular septal defect	3209	HOXA13	ORPHA:2438
HP:0001629	Ventricular septal defect	5422	POLA1	OMIM:301030
HP:0001629	Ventricular septal defect	79576	NKAP	OMIM:301039
HP:0001629	Ventricular septal defect	25	ABL1	OMIM:617602
HP:0001629	Ventricular septal defect	57511	COG6	OMIM:614576
HP:0001629	Ventricular septal defect	2260	FGFR1	OMIM:613001
HP:0001629	Ventricular septal defect	2313	FLI1	ORPHA:2308
HP:0001629	Ventricular septal defect	7074	TIAM1	OMIM:619908
HP:0001629	Ventricular septal defect	59336	PRDM13	OMIM:619909
HP:0001629	Ventricular septal defect	6878	TAF6	ORPHA:199
HP:0001629	Ventricular septal defect	55869	HDAC8	ORPHA:199
HP:0001629	Ventricular septal defect	5885	RAD21	ORPHA:199
HP:0001629	Ventricular septal defect	157680	VPS13B	ORPHA:193
HP:0001629	Ventricular septal defect	10367	MICU1	OMIM:615673
HP:0001629	Ventricular septal defect	3845	KRAS	OMIM:609942
HP:0001629	Ventricular septal defect	54880	BCOR	OMIM:300166
HP:0001629	Ventricular septal defect	55617	TASP1	OMIM:618950
HP:0001629	Ventricular septal defect	1857	DVL3	OMIM:616894
HP:0001629	Ventricular septal defect	10293	TRAIP	OMIM:616777
HP:0001629	Ventricular septal defect	9702	CEP57	OMIM:614114
HP:0001629	Ventricular septal defect	202018	TAPT1	OMIM:616897
HP:0001629	Ventricular septal defect	5500	PPP1CB	OMIM:617506
HP:0001629	Ventricular septal defect	93649	MYOCD	OMIM:618719
HP:0001629	Ventricular septal defect	139285	AMER1	OMIM:300373
HP:0001629	Ventricular septal defect	5879	RAC1	OMIM:617751
HP:0001629	Ventricular septal defect	5879	RAC1	ORPHA:500159
HP:0001629	Ventricular septal defect	10274	STAG1	OMIM:617635
HP:0001629	Ventricular septal defect	51780	KDM3B	OMIM:618846
HP:0001629	Ventricular septal defect	1663	DDX11	OMIM:613398
HP:0001629	Ventricular septal defect	10312	TCIRG1	ORPHA:1782
HP:0001629	Ventricular septal defect	8792	TNFRSF11A	ORPHA:1782
HP:0001629	Ventricular septal defect	5718	PSMD12	OMIM:617516
HP:0001629	Ventricular septal defect	9439	MED23	OMIM:614249
HP:0001629	Ventricular septal defect	9939	RBM8A	OMIM:274000
HP:0001629	Ventricular septal defect	64131	XYLT1	ORPHA:1425
HP:0001629	Ventricular septal defect	124583	CANT1	ORPHA:1425
HP:0001629	Ventricular septal defect	37	ACADVL	ORPHA:26793
HP:0001629	Ventricular septal defect	7043	TGFB3	OMIM:615582
HP:0001629	Ventricular septal defect	7543	ZFX	OMIM:301118
HP:0001629	Ventricular septal defect	523	ATP6V1A	OMIM:617403
HP:0001629	Ventricular septal defect	7372	UMPS	OMIM:258900
HP:0001629	Ventricular septal defect	84148	KAT8	OMIM:618974
HP:0001629	Ventricular septal defect	6655	SOS2	OMIM:616559
HP:0001629	Ventricular septal defect	100128908	CIROP	OMIM:619702
HP:0001629	Ventricular septal defect	58499	ZNF462	OMIM:618619
HP:0001629	Ventricular septal defect	673	BRAF	OMIM:163950
HP:0001629	Ventricular septal defect	5781	PTPN11	OMIM:163950
HP:0001629	Ventricular septal defect	1802	DPH2	OMIM:620062
HP:0001629	Ventricular septal defect	6123	RPL3L	OMIM:619371
HP:0001629	Ventricular septal defect	5700	PSMC1	OMIM:620071
HP:0001629	Ventricular septal defect	5515	PPP2CA	OMIM:618354
HP:0001629	Ventricular septal defect	4607	MYBPC3	OMIM:115197
HP:0001629	Ventricular septal defect	2703	GJA8	OMIM:612474
HP:0001629	Ventricular septal defect	2702	GJA5	OMIM:612474
HP:0001629	Ventricular septal defect	23511	NUP188	OMIM:618804
HP:0001629	Ventricular septal defect	131118	DNAJC19	ORPHA:66634
HP:0001629	Ventricular septal defect	23545	ATP6V0A2	OMIM:278250
HP:0001629	Ventricular septal defect	51729	WBP11	OMIM:619227
HP:0001629	Ventricular septal defect	439	GET3	OMIM:620203
HP:0001629	Ventricular septal defect	374969	SVBP	OMIM:618569
HP:0001629	Ventricular septal defect	79087	ALG12	ORPHA:79324
HP:0001629	Ventricular septal defect	51611	DPH5	OMIM:620070
HP:0001629	Ventricular septal defect	1828	DSG1	OMIM:615508
HP:0001629	Ventricular septal defect	3417	IDH1	ORPHA:99646
HP:0001629	Ventricular septal defect	2271	FH	OMIM:606812
HP:0001629	Ventricular septal defect	91949	COG7	OMIM:608779
HP:0001629	Ventricular septal defect	4718	NDUFC2	OMIM:619170
HP:0001629	Ventricular septal defect	808	CALM3	OMIM:618782
HP:0001629	Ventricular septal defect	650	BMP2	OMIM:617877
HP:0001629	Ventricular septal defect	1107	CHD3	OMIM:618205
HP:0001629	Ventricular septal defect	79645	CLXN	OMIM:620642
HP:0001629	Ventricular septal defect	22872	SEC31A	OMIM:618651
HP:0001629	Ventricular septal defect	10370	CITED2	OMIM:614431
HP:0001629	Ventricular septal defect	4625	MYH7	OMIM:613426
HP:0001629	Ventricular septal defect	79053	ALG8	OMIM:608104
HP:0001629	Ventricular septal defect	4713	NDUFB7	OMIM:620135
HP:0001626	Abnormality of the cardiovascular system	5500	PPP1CB	OMIM:617506
HP:0001626	Abnormality of the cardiovascular system	246329	STAC3	ORPHA:168572
HP:0001626	Abnormality of the cardiovascular system	55129	ANO10	ORPHA:284289
HP:0001626	Abnormality of the cardiovascular system	55129	ANO10	OMIM:613728
HP:0001626	Abnormality of the cardiovascular system	987	LRBA	OMIM:614700
HP:0001626	Abnormality of the cardiovascular system	1736	DKC1	OMIM:305000
HP:0001626	Abnormality of the cardiovascular system	2778	GNAS	ORPHA:94089
HP:0001626	Abnormality of the cardiovascular system	2778	GNAS	ORPHA:79443
HP:0001626	Abnormality of the cardiovascular system	2778	GNAS	ORPHA:79444
HP:0001626	Abnormality of the cardiovascular system	8675	STX16	ORPHA:94089
HP:0001626	Abnormality of the cardiovascular system	5896	RAG1	OMIM:601457
HP:0001626	Abnormality of the cardiovascular system	5897	RAG2	OMIM:601457
HP:0001626	Abnormality of the cardiovascular system	162	AP1B1	OMIM:242150
HP:0001626	Abnormality of the cardiovascular system	8626	TP63	OMIM:103285
HP:0001626	Abnormality of the cardiovascular system	8626	TP63	OMIM:106260
HP:0001626	Abnormality of the cardiovascular system	115650	TNFRSF13C	OMIM:240500
HP:0001626	Abnormality of the cardiovascular system	29851	ICOS	OMIM:240500
HP:0001626	Abnormality of the cardiovascular system	29851	ICOS	OMIM:607594
HP:0001626	Abnormality of the cardiovascular system	930	CD19	OMIM:240500
HP:0001626	Abnormality of the cardiovascular system	930	CD19	OMIM:613493
HP:0001626	Abnormality of the cardiovascular system	23495	TNFRSF13B	OMIM:240500
HP:0001626	Abnormality of the cardiovascular system	1380	CR2	OMIM:240500
HP:0001626	Abnormality of the cardiovascular system	7037	TFRC	OMIM:616740
HP:0001626	Abnormality of the cardiovascular system	686	BTD	OMIM:253260
HP:0001626	Abnormality of the cardiovascular system	686	BTD	ORPHA:79241
HP:0001626	Abnormality of the cardiovascular system	2077	ERF	ORPHA:207
HP:0001626	Abnormality of the cardiovascular system	10804	GJB6	OMIM:129500
HP:0001626	Abnormality of the cardiovascular system	10804	GJB6	ORPHA:477
HP:0001626	Abnormality of the cardiovascular system	2706	GJB2	ORPHA:477
HP:0001626	Abnormality of the cardiovascular system	3507	IGHM	OMIM:601495
HP:0001626	Abnormality of the cardiovascular system	3507	IGHM	ORPHA:33110
HP:0001626	Abnormality of the cardiovascular system	8676	STX11	OMIM:603552
HP:0001626	Abnormality of the cardiovascular system	5075	PAX1	OMIM:615560
HP:0001626	Abnormality of the cardiovascular system	974	CD79B	OMIM:612692
HP:0001626	Abnormality of the cardiovascular system	974	CD79B	ORPHA:33110
HP:0001626	Abnormality of the cardiovascular system	7390	UROS	OMIM:263700
HP:0001626	Abnormality of the cardiovascular system	5692	PSMB4	OMIM:617591
HP:0001626	Abnormality of the cardiovascular system	7994	KAT6A	OMIM:616268
HP:0001626	Abnormality of the cardiovascular system	404672	GTF2H5	ORPHA:33364
HP:0001626	Abnormality of the cardiovascular system	833	CARS1	ORPHA:33364
HP:0001626	Abnormality of the cardiovascular system	136647	MPLKIP	ORPHA:33364
HP:0001626	Abnormality of the cardiovascular system	6897	TARS1	ORPHA:33364
HP:0001626	Abnormality of the cardiovascular system	16	AARS1	ORPHA:33364
HP:0001626	Abnormality of the cardiovascular system	2961	GTF2E2	ORPHA:33364
HP:0001626	Abnormality of the cardiovascular system	54809	SAMD9	OMIM:610455
HP:0001626	Abnormality of the cardiovascular system	3321	IGSF3	OMIM:149700
HP:0001626	Abnormality of the cardiovascular system	6929	TCF3	ORPHA:33110
HP:0001626	Abnormality of the cardiovascular system	7922	SLC39A7	ORPHA:33110
HP:0001626	Abnormality of the cardiovascular system	973	CD79A	ORPHA:33110
HP:0001626	Abnormality of the cardiovascular system	6688	SPI1	ORPHA:33110
HP:0001626	Abnormality of the cardiovascular system	3543	IGLL1	ORPHA:33110
HP:0001626	Abnormality of the cardiovascular system	29760	BLNK	ORPHA:33110
HP:0001626	Abnormality of the cardiovascular system	5295	PIK3R1	ORPHA:33110
HP:0001626	Abnormality of the cardiovascular system	56262	LRRC8A	ORPHA:33110
HP:0001626	Abnormality of the cardiovascular system	3978	LIG1	OMIM:619774
HP:0001626	Abnormality of the cardiovascular system	23328	SASH1	OMIM:618373
HP:0001626	Abnormality of the cardiovascular system	4683	NBN	OMIM:251260
HP:0001626	Abnormality of the cardiovascular system	5648	MASP1	OMIM:257920
HP:0001626	Abnormality of the cardiovascular system	472	ATM	OMIM:208900
HP:0001626	Abnormality of the cardiovascular system	23064	SETX	OMIM:606002
HP:0001626	Abnormality of the cardiovascular system	344	APOC2	OMIM:207750
HP:0001626	Abnormality of the cardiovascular system	2538	G6PC1	OMIM:232200
HP:0001626	Abnormality of the cardiovascular system	338328	GPIHBP1	OMIM:615947
HP:0001626	Abnormality of the cardiovascular system	2542	SLC37A4	OMIM:232220
HP:0001626	Abnormality of the cardiovascular system	57217	TTC7A	OMIM:243150
HP:0001626	Abnormality of the cardiovascular system	57217	TTC7A	ORPHA:436252
HP:0001626	Abnormality of the cardiovascular system	6097	RORC	OMIM:616622
HP:0001626	Abnormality of the cardiovascular system	5297	PI4KA	ORPHA:436252
HP:0001626	Abnormality of the cardiovascular system	56160	NSMCE3	OMIM:617241
HP:0001626	Abnormality of the cardiovascular system	54507	ADAMTSL4	ORPHA:1885
HP:0001626	Abnormality of the cardiovascular system	63924	CIDEC	OMIM:615238
HP:0001626	Abnormality of the cardiovascular system	23607	CD2AP	OMIM:607832
HP:0001626	Abnormality of the cardiovascular system	10686	CLDN16	OMIM:248250
HP:0001626	Abnormality of the cardiovascular system	1586	CYP17A1	ORPHA:90793
HP:0001626	Abnormality of the cardiovascular system	1586	CYP17A1	OMIM:202110
HP:0001626	Abnormality of the cardiovascular system	79184	BRCC3	ORPHA:280679
HP:0001626	Abnormality of the cardiovascular system	5139	PDE3A	OMIM:112410
HP:0001626	Abnormality of the cardiovascular system	5139	PDE3A	ORPHA:1276
HP:0001626	Abnormality of the cardiovascular system	9860	LRIG2	ORPHA:2704
HP:0001626	Abnormality of the cardiovascular system	60495	HPSE2	ORPHA:2704
HP:0001626	Abnormality of the cardiovascular system	9681	DEPDC5	OMIM:620504
HP:0001626	Abnormality of the cardiovascular system	5244	ABCB4	ORPHA:69663
HP:0001626	Abnormality of the cardiovascular system	4982	TNFRSF11B	ORPHA:2801
HP:0001626	Abnormality of the cardiovascular system	8792	TNFRSF11A	ORPHA:2801
HP:0001626	Abnormality of the cardiovascular system	4193	MDM2	OMIM:618681
HP:0001626	Abnormality of the cardiovascular system	5076	PAX2	ORPHA:97362
HP:0001626	Abnormality of the cardiovascular system	5076	PAX2	OMIM:120330
HP:0001626	Abnormality of the cardiovascular system	3875	KRT18	OMIM:215600
HP:0001626	Abnormality of the cardiovascular system	629	CFB	OMIM:612924
HP:0001626	Abnormality of the cardiovascular system	8912	CACNA1H	OMIM:617027
HP:0001626	Abnormality of the cardiovascular system	150	ADRA2A	OMIM:620679
HP:0001626	Abnormality of the cardiovascular system	50619	DEF6	OMIM:619573
HP:0001626	Abnormality of the cardiovascular system	11145	PLAAT3	OMIM:620683
HP:0001626	Abnormality of the cardiovascular system	7225	TRPC6	OMIM:603965
HP:0001626	Abnormality of the cardiovascular system	1286	COL4A4	OMIM:203780
HP:0001626	Abnormality of the cardiovascular system	2335	FN1	ORPHA:84090
HP:0001626	Abnormality of the cardiovascular system	2335	FN1	OMIM:601894
HP:0001626	Abnormality of the cardiovascular system	51317	PHF21A	ORPHA:52022
HP:0001626	Abnormality of the cardiovascular system	353	APRT	ORPHA:976
HP:0001626	Abnormality of the cardiovascular system	1026	CDKN1A	ORPHA:652
HP:0001626	Abnormality of the cardiovascular system	1031	CDKN2C	ORPHA:652
HP:0001626	Abnormality of the cardiovascular system	4256	MGP	OMIM:245150
HP:0001626	Abnormality of the cardiovascular system	26146	TRAF3IP1	ORPHA:3156
HP:0001626	Abnormality of the cardiovascular system	9657	IQCB1	ORPHA:3156
HP:0001626	Abnormality of the cardiovascular system	27130	INVS	ORPHA:3156
HP:0001626	Abnormality of the cardiovascular system	27130	INVS	OMIM:602088
HP:0001626	Abnormality of the cardiovascular system	261734	NPHP4	ORPHA:3156
HP:0001626	Abnormality of the cardiovascular system	22897	CEP164	ORPHA:3156
HP:0001626	Abnormality of the cardiovascular system	123263	MTFMT	OMIM:614947
HP:0001626	Abnormality of the cardiovascular system	55806	HR	ORPHA:701
HP:0001626	Abnormality of the cardiovascular system	55249	YY1AP1	ORPHA:79094
HP:0001626	Abnormality of the cardiovascular system	3766	KCNJ10	OMIM:612780
HP:0001626	Abnormality of the cardiovascular system	7809	BSND	ORPHA:89938
HP:0001626	Abnormality of the cardiovascular system	1187	CLCNKA	ORPHA:89938
HP:0001626	Abnormality of the cardiovascular system	10253	SPRY2	OMIM:616818
HP:0001626	Abnormality of the cardiovascular system	7369	UMOD	OMIM:162000
HP:0001626	Abnormality of the cardiovascular system	50628	GEMIN4	OMIM:617913
HP:0001626	Abnormality of the cardiovascular system	3991	LIPE	OMIM:615980
HP:0001626	Abnormality of the cardiovascular system	51134	CEP83	OMIM:615862
HP:0001626	Abnormality of the cardiovascular system	4160	MC4R	ORPHA:71529
HP:0001626	Abnormality of the cardiovascular system	10058	ABCB6	ORPHA:90044
HP:0001626	Abnormality of the cardiovascular system	10229	COQ7	OMIM:616733
HP:0001626	Abnormality of the cardiovascular system	137682	NDUFAF6	OMIM:618913
HP:0001626	Abnormality of the cardiovascular system	1287	COL4A5	OMIM:301050
HP:0001626	Abnormality of the cardiovascular system	64423	INF2	OMIM:613237
HP:0001626	Abnormality of the cardiovascular system	55644	OSGEP	OMIM:617729
HP:0001626	Abnormality of the cardiovascular system	1589	CYP21A2	OMIM:201910
HP:0001626	Abnormality of the cardiovascular system	2643	GCH1	ORPHA:98808
HP:0001626	Abnormality of the cardiovascular system	4929	NR4A2	ORPHA:98808
HP:0001626	Abnormality of the cardiovascular system	3615	IMPDH2	ORPHA:98808
HP:0001626	Abnormality of the cardiovascular system	284086	NEK8	OMIM:620903
HP:0001626	Abnormality of the cardiovascular system	54796	BNC2	ORPHA:93110
HP:0001626	Abnormality of the cardiovascular system	79783	SUGCT	OMIM:231690
HP:0001626	Abnormality of the cardiovascular system	81	ACTN4	OMIM:603278
HP:0001626	Abnormality of the cardiovascular system	60401	EDA2R	ORPHA:181
HP:0001626	Abnormality of the cardiovascular system	1896	EDA	ORPHA:181
HP:0001626	Abnormality of the cardiovascular system	5456	POU3F4	ORPHA:1435
HP:0001626	Abnormality of the cardiovascular system	63929	XPNPEP3	OMIM:613159
HP:0001626	Abnormality of the cardiovascular system	1285	COL4A3	OMIM:104200
HP:0001626	Abnormality of the cardiovascular system	65266	WNK4	OMIM:614491
HP:0001626	Abnormality of the cardiovascular system	65125	WNK1	OMIM:614492
HP:0001626	Abnormality of the cardiovascular system	23404	EXOSC2	OMIM:617763
HP:0001626	Abnormality of the cardiovascular system	26249	KLHL3	OMIM:614495
HP:0001626	Abnormality of the cardiovascular system	8452	CUL3	OMIM:614496
HP:0001626	Abnormality of the cardiovascular system	10660	LBX1	OMIM:619483
HP:0001626	Abnormality of the cardiovascular system	9791	PTDSS1	OMIM:151050
HP:0001626	Abnormality of the cardiovascular system	2982	GUCY1A1	OMIM:615750
HP:0001626	Abnormality of the cardiovascular system	2982	GUCY1A1	ORPHA:401945
HP:0001626	Abnormality of the cardiovascular system	7737	RNF113A	OMIM:300953
HP:0001626	Abnormality of the cardiovascular system	189	AGXT	OMIM:259900
HP:0001626	Abnormality of the cardiovascular system	2355	FOSL2	OMIM:620789
HP:0001626	Abnormality of the cardiovascular system	8364	H4C3	OMIM:619758
HP:0001626	Abnormality of the cardiovascular system	10274	STAG1	ORPHA:502434
HP:0001626	Abnormality of the cardiovascular system	4774	NFIA	OMIM:613735
HP:0001626	Abnormality of the cardiovascular system	4774	NFIA	ORPHA:401986
HP:0001626	Abnormality of the cardiovascular system	151188	ARL6IP6	ORPHA:1556
HP:0001626	Abnormality of the cardiovascular system	79068	FTO	OMIM:612938
HP:0001626	Abnormality of the cardiovascular system	5422	POLA1	OMIM:301220
HP:0001626	Abnormality of the cardiovascular system	1663	DDX11	OMIM:613398
HP:0001626	Abnormality of the cardiovascular system	340061	STING1	OMIM:615934
HP:0001626	Abnormality of the cardiovascular system	10000	AKT3	OMIM:615937
HP:0001626	Abnormality of the cardiovascular system	875	CBS	OMIM:236200
HP:0001626	Abnormality of the cardiovascular system	51574	LARP7	ORPHA:319671
HP:0001626	Abnormality of the cardiovascular system	25	ABL1	OMIM:617602
HP:0001626	Abnormality of the cardiovascular system	10535	RNASEH2A	ORPHA:51
HP:0001626	Abnormality of the cardiovascular system	84153	RNASEH2C	ORPHA:51
HP:0001626	Abnormality of the cardiovascular system	25939	SAMHD1	ORPHA:51
HP:0001626	Abnormality of the cardiovascular system	79621	RNASEH2B	ORPHA:51
HP:0001626	Abnormality of the cardiovascular system	103	ADAR	ORPHA:51
HP:0001626	Abnormality of the cardiovascular system	134353	LSM11	ORPHA:51
HP:0001626	Abnormality of the cardiovascular system	7046	TGFBR1	ORPHA:91387
HP:0001626	Abnormality of the cardiovascular system	7048	TGFBR2	ORPHA:91387
HP:0001626	Abnormality of the cardiovascular system	4015	LOX	ORPHA:91387
HP:0001626	Abnormality of the cardiovascular system	4087	SMAD2	ORPHA:91387
HP:0001626	Abnormality of the cardiovascular system	7043	TGFB3	ORPHA:91387
HP:0001626	Abnormality of the cardiovascular system	7042	TGFB2	ORPHA:91387
HP:0001626	Abnormality of the cardiovascular system	59	ACTA2	ORPHA:91387
HP:0001626	Abnormality of the cardiovascular system	5592	PRKG1	ORPHA:91387
HP:0001626	Abnormality of the cardiovascular system	2301	FOXE3	ORPHA:91387
HP:0001626	Abnormality of the cardiovascular system	4144	MAT2A	ORPHA:91387
HP:0001626	Abnormality of the cardiovascular system	23493	HEY2	ORPHA:91387
HP:0001626	Abnormality of the cardiovascular system	8076	MFAP5	ORPHA:91387
HP:0001626	Abnormality of the cardiovascular system	79875	THSD4	ORPHA:91387
HP:0001626	Abnormality of the cardiovascular system	9898	UBAP2L	OMIM:620494
HP:0001626	Abnormality of the cardiovascular system	3937	LCP2	OMIM:619374
HP:0001626	Abnormality of the cardiovascular system	64858	DCLRE1B	OMIM:620133
HP:0001626	Abnormality of the cardiovascular system	2811	GP1BA	OMIM:153670
HP:0001626	Abnormality of the cardiovascular system	2811	GP1BA	ORPHA:274
HP:0001626	Abnormality of the cardiovascular system	2815	GP9	ORPHA:274
HP:0001626	Abnormality of the cardiovascular system	2266	FGG	OMIM:202400
HP:0001626	Abnormality of the cardiovascular system	2243	FGA	OMIM:202400
HP:0001626	Abnormality of the cardiovascular system	2244	FGB	OMIM:202400
HP:0001626	Abnormality of the cardiovascular system	538	ATP7A	OMIM:304150
HP:0001626	Abnormality of the cardiovascular system	538	ATP7A	ORPHA:198
HP:0001626	Abnormality of the cardiovascular system	1186	CLCN7	ORPHA:667
HP:0001626	Abnormality of the cardiovascular system	29887	SNX10	ORPHA:667
HP:0001626	Abnormality of the cardiovascular system	8600	TNFSF11	ORPHA:667
HP:0001626	Abnormality of the cardiovascular system	5551	PRF1	ORPHA:540
HP:0001626	Abnormality of the cardiovascular system	201294	UNC13D	ORPHA:540
HP:0001626	Abnormality of the cardiovascular system	6813	STXBP2	ORPHA:540
HP:0001626	Abnormality of the cardiovascular system	2158	F9	OMIM:306900
HP:0001626	Abnormality of the cardiovascular system	54453	RIN2	ORPHA:217335
HP:0001626	Abnormality of the cardiovascular system	54453	RIN2	OMIM:613075
HP:0001626	Abnormality of the cardiovascular system	2120	ETV6	OMIM:616216
HP:0001626	Abnormality of the cardiovascular system	55033	FKBP14	OMIM:614557
HP:0001626	Abnormality of the cardiovascular system	55033	FKBP14	ORPHA:300179
HP:0001626	Abnormality of the cardiovascular system	10235	RASGRP2	OMIM:615888
HP:0001626	Abnormality of the cardiovascular system	1130	LYST	OMIM:214500
HP:0001626	Abnormality of the cardiovascular system	1130	LYST	ORPHA:167
HP:0001626	Abnormality of the cardiovascular system	1130	LYST	ORPHA:352723
HP:0001626	Abnormality of the cardiovascular system	23218	NBEAL2	OMIM:139090
HP:0001626	Abnormality of the cardiovascular system	23218	NBEAL2	ORPHA:721
HP:0001626	Abnormality of the cardiovascular system	63915	BLOC1S5	OMIM:619172
HP:0001626	Abnormality of the cardiovascular system	165	AEBP1	OMIM:618000
HP:0001626	Abnormality of the cardiovascular system	165	AEBP1	ORPHA:536532
HP:0001626	Abnormality of the cardiovascular system	51206	GP6	OMIM:614201
HP:0001626	Abnormality of the cardiovascular system	5831	PYCR1	OMIM:612940
HP:0001626	Abnormality of the cardiovascular system	3674	ITGA2B	ORPHA:849
HP:0001626	Abnormality of the cardiovascular system	3674	ITGA2B	OMIM:273800
HP:0001626	Abnormality of the cardiovascular system	3690	ITGB3	ORPHA:849
HP:0001626	Abnormality of the cardiovascular system	3690	ITGB3	OMIM:619267
HP:0001626	Abnormality of the cardiovascular system	90993	CREB3L1	OMIM:616229
HP:0001626	Abnormality of the cardiovascular system	2159	F10	ORPHA:328
HP:0001626	Abnormality of the cardiovascular system	9103	FCGR2C	ORPHA:3002
HP:0001626	Abnormality of the cardiovascular system	2155	F7	ORPHA:327
HP:0001626	Abnormality of the cardiovascular system	2155	F7	OMIM:227500
HP:0001626	Abnormality of the cardiovascular system	22852	ANKRD26	OMIM:188000
HP:0001626	Abnormality of the cardiovascular system	9509	ADAMTS2	OMIM:225410
HP:0001626	Abnormality of the cardiovascular system	11107	PRDM5	OMIM:614170
HP:0001626	Abnormality of the cardiovascular system	11107	PRDM5	ORPHA:90354
HP:0001626	Abnormality of the cardiovascular system	633	BGN	OMIM:300989
HP:0001626	Abnormality of the cardiovascular system	4507	MTAP	OMIM:112250
HP:0001626	Abnormality of the cardiovascular system	8985	PLOD3	OMIM:612394
HP:0001626	Abnormality of the cardiovascular system	5328	PLAU	OMIM:601709
HP:0001626	Abnormality of the cardiovascular system	342618	SLFN14	OMIM:616913
HP:0001626	Abnormality of the cardiovascular system	7450	VWF	OMIM:193400
HP:0001626	Abnormality of the cardiovascular system	7450	VWF	OMIM:613554
HP:0001626	Abnormality of the cardiovascular system	7450	VWF	OMIM:277480
HP:0001626	Abnormality of the cardiovascular system	716	C1S	OMIM:617174
HP:0001626	Abnormality of the cardiovascular system	540	ATP7B	ORPHA:905
HP:0001626	Abnormality of the cardiovascular system	7058	THBS2	OMIM:620865
HP:0001626	Abnormality of the cardiovascular system	3257	HPS1	OMIM:203300
HP:0001626	Abnormality of the cardiovascular system	64805	P2RY12	OMIM:609821
HP:0001626	Abnormality of the cardiovascular system	5345	SERPINF2	ORPHA:79
HP:0001626	Abnormality of the cardiovascular system	5345	SERPINF2	OMIM:262850
HP:0001626	Abnormality of the cardiovascular system	715	C1R	OMIM:130080
HP:0001626	Abnormality of the cardiovascular system	89781	HPS4	OMIM:614073
HP:0001626	Abnormality of the cardiovascular system	11234	HPS5	OMIM:614074
HP:0001626	Abnormality of the cardiovascular system	84343	HPS3	OMIM:614072
HP:0001626	Abnormality of the cardiovascular system	388552	BLOC1S3	OMIM:614077
HP:0001626	Abnormality of the cardiovascular system	5594	MAPK1	OMIM:619087
HP:0001626	Abnormality of the cardiovascular system	3998	LMAN1	ORPHA:35909
HP:0001626	Abnormality of the cardiovascular system	90411	MCFD2	ORPHA:35909
HP:0001626	Abnormality of the cardiovascular system	200931	SLC51A	OMIM:619484
HP:0001626	Abnormality of the cardiovascular system	84062	DTNBP1	OMIM:614076
HP:0001626	Abnormality of the cardiovascular system	6786	STIM1	OMIM:185070
HP:0001626	Abnormality of the cardiovascular system	79798	ARMC5	ORPHA:189427
HP:0001626	Abnormality of the cardiovascular system	23028	KDM1A	ORPHA:189427
HP:0001626	Abnormality of the cardiovascular system	10020	GNE	OMIM:620757
HP:0001626	Abnormality of the cardiovascular system	84627	ZNF469	ORPHA:90354
HP:0001626	Abnormality of the cardiovascular system	23387	SIK3	OMIM:618162
HP:0001626	Abnormality of the cardiovascular system	126792	B3GALT6	ORPHA:536467
HP:0001626	Abnormality of the cardiovascular system	11117	EMILIN1	OMIM:620080
HP:0001626	Abnormality of the cardiovascular system	6915	TBXA2R	OMIM:614009
HP:0001626	Abnormality of the cardiovascular system	2147	F2	OMIM:613679
HP:0001626	Abnormality of the cardiovascular system	2624	GATA2	ORPHA:228423
HP:0001626	Abnormality of the cardiovascular system	7171	TPM4	OMIM:620486
HP:0001626	Abnormality of the cardiovascular system	5795	PTPRJ	OMIM:620484
HP:0001626	Abnormality of the cardiovascular system	5371	PML	ORPHA:520
HP:0001626	Abnormality of the cardiovascular system	5914	RARA	ORPHA:520
HP:0001626	Abnormality of the cardiovascular system	359948	IRF2BP2	ORPHA:520
HP:0001626	Abnormality of the cardiovascular system	81608	FIP1L1	ORPHA:520
HP:0001626	Abnormality of the cardiovascular system	64859	NABP1	ORPHA:520
HP:0001626	Abnormality of the cardiovascular system	6777	STAT5B	ORPHA:520
HP:0001626	Abnormality of the cardiovascular system	4926	NUMA1	ORPHA:520
HP:0001626	Abnormality of the cardiovascular system	7704	ZBTB16	ORPHA:520
HP:0001626	Abnormality of the cardiovascular system	79718	TBL1XR1	ORPHA:520
HP:0001626	Abnormality of the cardiovascular system	91252	SLC39A13	ORPHA:157965
HP:0001626	Abnormality of the cardiovascular system	91252	SLC39A13	OMIM:612350
HP:0001626	Abnormality of the cardiovascular system	8328	GFI1B	OMIM:187900
HP:0001626	Abnormality of the cardiovascular system	975	CD81	OMIM:613496
HP:0001626	Abnormality of the cardiovascular system	975	CD81	ORPHA:1572
HP:0001626	Abnormality of the cardiovascular system	7036	TFR2	OMIM:604250
HP:0001626	Abnormality of the cardiovascular system	3673	ITGA2	ORPHA:853
HP:0001626	Abnormality of the cardiovascular system	135228	CD109	ORPHA:853
HP:0001626	Abnormality of the cardiovascular system	2533	FYB1	OMIM:273900
HP:0001626	Abnormality of the cardiovascular system	54	ACP5	OMIM:607944
HP:0001626	Abnormality of the cardiovascular system	9630	GNA14	ORPHA:1063
HP:0001626	Abnormality of the cardiovascular system	84876	ORAI1	ORPHA:3204
HP:0001626	Abnormality of the cardiovascular system	717	C2	OMIM:217000
HP:0001626	Abnormality of the cardiovascular system	4790	NFKB1	ORPHA:1572
HP:0001626	Abnormality of the cardiovascular system	8742	TNFSF12	ORPHA:1572
HP:0001626	Abnormality of the cardiovascular system	931	MS4A1	ORPHA:1572
HP:0001626	Abnormality of the cardiovascular system	3207	HOXA11	OMIM:605432
HP:0001626	Abnormality of the cardiovascular system	10878	CFHR3	OMIM:235400
HP:0001626	Abnormality of the cardiovascular system	3078	CFHR1	OMIM:235400
HP:0001626	Abnormality of the cardiovascular system	80036	TRPM3	OMIM:620224
HP:0001626	Abnormality of the cardiovascular system	1643	DDB2	OMIM:278740
HP:0001626	Abnormality of the cardiovascular system	1643	DDB2	ORPHA:910
HP:0001626	Abnormality of the cardiovascular system	11284	PNKP	ORPHA:459033
HP:0001626	Abnormality of the cardiovascular system	1729	DIAPH1	ORPHA:2573
HP:0001626	Abnormality of the cardiovascular system	57674	RNF213	ORPHA:2573
HP:0001626	Abnormality of the cardiovascular system	7507	XPA	OMIM:278700
HP:0001626	Abnormality of the cardiovascular system	7507	XPA	ORPHA:910
HP:0001626	Abnormality of the cardiovascular system	79650	USB1	OMIM:604173
HP:0001626	Abnormality of the cardiovascular system	6888	TALDO1	ORPHA:101028
HP:0001626	Abnormality of the cardiovascular system	6888	TALDO1	OMIM:606003
HP:0001626	Abnormality of the cardiovascular system	1294	COL7A1	ORPHA:158673
HP:0001626	Abnormality of the cardiovascular system	6812	STXBP1	ORPHA:495818
HP:0001626	Abnormality of the cardiovascular system	2074	ERCC6	OMIM:600630
HP:0001626	Abnormality of the cardiovascular system	2074	ERCC6	OMIM:278800
HP:0001626	Abnormality of the cardiovascular system	8813	DPM1	OMIM:608799
HP:0001626	Abnormality of the cardiovascular system	84992	PIGY	ORPHA:247262
HP:0001626	Abnormality of the cardiovascular system	84720	PIGO	ORPHA:247262
HP:0001626	Abnormality of the cardiovascular system	93210	PGAP3	ORPHA:247262
HP:0001626	Abnormality of the cardiovascular system	284098	PIGW	ORPHA:247262
HP:0001626	Abnormality of the cardiovascular system	27315	PGAP2	ORPHA:247262
HP:0001626	Abnormality of the cardiovascular system	9487	PIGL	ORPHA:247262
HP:0001626	Abnormality of the cardiovascular system	57654	UVSSA	OMIM:614640
HP:0001626	Abnormality of the cardiovascular system	545	ATR	OMIM:614564
HP:0001626	Abnormality of the cardiovascular system	4361	MRE11	OMIM:604391
HP:0001626	Abnormality of the cardiovascular system	7508	XPC	OMIM:278720
HP:0001626	Abnormality of the cardiovascular system	7508	XPC	ORPHA:910
HP:0001626	Abnormality of the cardiovascular system	5429	POLH	ORPHA:90342
HP:0001626	Abnormality of the cardiovascular system	641	BLM	ORPHA:125
HP:0001626	Abnormality of the cardiovascular system	2068	ERCC2	OMIM:601675
HP:0001626	Abnormality of the cardiovascular system	2068	ERCC2	OMIM:278730
HP:0001626	Abnormality of the cardiovascular system	2068	ERCC2	ORPHA:910
HP:0001626	Abnormality of the cardiovascular system	659	BMPR2	OMIM:178600
HP:0001626	Abnormality of the cardiovascular system	165918	RNF168	ORPHA:420741
HP:0001626	Abnormality of the cardiovascular system	4668	NAGA	ORPHA:79279
HP:0001626	Abnormality of the cardiovascular system	2071	ERCC3	ORPHA:910
HP:0001626	Abnormality of the cardiovascular system	2072	ERCC4	ORPHA:910
HP:0001626	Abnormality of the cardiovascular system	2073	ERCC5	ORPHA:910
HP:0001626	Abnormality of the cardiovascular system	64682	ANAPC1	ORPHA:221008
HP:0001626	Abnormality of the cardiovascular system	4126	MANBA	OMIM:248510
HP:0001626	Abnormality of the cardiovascular system	92579	G6PC3	OMIM:612541
HP:0001626	Abnormality of the cardiovascular system	8815	BANF1	OMIM:614008
HP:0001626	Abnormality of the cardiovascular system	25839	COG4	OMIM:618150
HP:0001626	Abnormality of the cardiovascular system	529	ATP6V1E1	OMIM:617402
HP:0001626	Abnormality of the cardiovascular system	84919	PPP1R15B	OMIM:616817
HP:0001626	Abnormality of the cardiovascular system	7424	VEGFC	OMIM:615907
HP:0001626	Abnormality of the cardiovascular system	355	FAS	ORPHA:3261
HP:0001626	Abnormality of the cardiovascular system	355	FAS	OMIM:601859
HP:0001626	Abnormality of the cardiovascular system	356	FASLG	ORPHA:3261
HP:0001626	Abnormality of the cardiovascular system	356	FASLG	OMIM:601859
HP:0001626	Abnormality of the cardiovascular system	843	CASP10	ORPHA:3261
HP:0001626	Abnormality of the cardiovascular system	843	CASP10	OMIM:603909
HP:0001626	Abnormality of the cardiovascular system	114548	NLRP3	OMIM:617772
HP:0001626	Abnormality of the cardiovascular system	114548	NLRP3	OMIM:191900
HP:0001626	Abnormality of the cardiovascular system	114548	NLRP3	ORPHA:575
HP:0001626	Abnormality of the cardiovascular system	114548	NLRP3	ORPHA:47045
HP:0001626	Abnormality of the cardiovascular system	114548	NLRP3	ORPHA:1451
HP:0001626	Abnormality of the cardiovascular system	114548	NLRP3	OMIM:120100
HP:0001626	Abnormality of the cardiovascular system	5880	RAC2	OMIM:618987
HP:0001626	Abnormality of the cardiovascular system	118429	ANTXR2	ORPHA:2176
HP:0001626	Abnormality of the cardiovascular system	7454	WAS	ORPHA:906
HP:0001626	Abnormality of the cardiovascular system	7456	WIPF1	ORPHA:906
HP:0001626	Abnormality of the cardiovascular system	4598	MVK	ORPHA:343
HP:0001626	Abnormality of the cardiovascular system	7512	XPNPEP2	ORPHA:100057
HP:0001626	Abnormality of the cardiovascular system	58484	NLRC4	OMIM:616050
HP:0001626	Abnormality of the cardiovascular system	58484	NLRC4	OMIM:616115
HP:0001626	Abnormality of the cardiovascular system	11005	SPINK5	OMIM:256500
HP:0001626	Abnormality of the cardiovascular system	11005	SPINK5	ORPHA:634
HP:0001626	Abnormality of the cardiovascular system	224	ALDH3A2	ORPHA:816
HP:0001626	Abnormality of the cardiovascular system	91662	NLRP12	OMIM:611762
HP:0001626	Abnormality of the cardiovascular system	710	SERPING1	ORPHA:100050
HP:0001626	Abnormality of the cardiovascular system	868	CBLB	OMIM:620430
HP:0001626	Abnormality of the cardiovascular system	6785	ELOVL4	ORPHA:1955
HP:0001626	Abnormality of the cardiovascular system	1369	CPN1	OMIM:212070
HP:0001626	Abnormality of the cardiovascular system	51360	MBTPS2	ORPHA:2273
HP:0001626	Abnormality of the cardiovascular system	50943	FOXP3	ORPHA:37042
HP:0001626	Abnormality of the cardiovascular system	80216	ALPK1	OMIM:614979
HP:0001626	Abnormality of the cardiovascular system	4067	LYN	OMIM:620376
HP:0001626	Abnormality of the cardiovascular system	30817	ADGRE2	OMIM:125630
HP:0001626	Abnormality of the cardiovascular system	8036	SHOC2	OMIM:607721
HP:0001626	Abnormality of the cardiovascular system	8367	H4C5	OMIM:619950
HP:0001626	Abnormality of the cardiovascular system	23135	KDM6B	OMIM:618505
HP:0001626	Abnormality of the cardiovascular system	3265	HRAS	OMIM:163200
HP:0001626	Abnormality of the cardiovascular system	3265	HRAS	ORPHA:2874
HP:0001626	Abnormality of the cardiovascular system	2324	FLT4	OMIM:153100
HP:0001626	Abnormality of the cardiovascular system	10483	SEC23B	OMIM:616858
HP:0001626	Abnormality of the cardiovascular system	5476	CTSA	OMIM:256540
HP:0001626	Abnormality of the cardiovascular system	5745	PTH1R	ORPHA:296
HP:0001626	Abnormality of the cardiovascular system	3418	IDH2	ORPHA:296
HP:0001626	Abnormality of the cardiovascular system	3417	IDH1	ORPHA:296
HP:0001626	Abnormality of the cardiovascular system	340665	CYP26C1	ORPHA:398189
HP:0001626	Abnormality of the cardiovascular system	23219	FBXO28	OMIM:619777
HP:0001626	Abnormality of the cardiovascular system	55901	THSD1	OMIM:620244
HP:0001626	Abnormality of the cardiovascular system	10312	TCIRG1	ORPHA:486
HP:0001626	Abnormality of the cardiovascular system	6728	SRP19	ORPHA:486
HP:0001626	Abnormality of the cardiovascular system	1991	ELANE	ORPHA:486
HP:0001626	Abnormality of the cardiovascular system	2672	GFI1	ORPHA:486
HP:0001626	Abnormality of the cardiovascular system	10943	MSL3	OMIM:301032
HP:0001626	Abnormality of the cardiovascular system	2475	MTOR	ORPHA:457485
HP:0001626	Abnormality of the cardiovascular system	7020	TFAP2A	ORPHA:1297
HP:0001626	Abnormality of the cardiovascular system	78987	CRELD1	OMIM:620771
HP:0001626	Abnormality of the cardiovascular system	399	RHOH	OMIM:618307
HP:0001626	Abnormality of the cardiovascular system	3785	KCNQ2	ORPHA:439218
HP:0001626	Abnormality of the cardiovascular system	26834	RNU4-2	OMIM:620851
HP:0001626	Abnormality of the cardiovascular system	64419	MTMR14	ORPHA:169189
HP:0001626	Abnormality of the cardiovascular system	4618	MYF6	ORPHA:169189
HP:0001626	Abnormality of the cardiovascular system	1785	DNM2	ORPHA:169189
HP:0001626	Abnormality of the cardiovascular system	2535	FZD2	OMIM:164745
HP:0001626	Abnormality of the cardiovascular system	6909	TBX2	OMIM:618223
HP:0001626	Abnormality of the cardiovascular system	3291	HSD11B2	ORPHA:320
HP:0001626	Abnormality of the cardiovascular system	3291	HSD11B2	OMIM:218030
HP:0001626	Abnormality of the cardiovascular system	2255	FGF10	ORPHA:2363
HP:0001626	Abnormality of the cardiovascular system	3141	HLCS	ORPHA:79242
HP:0001626	Abnormality of the cardiovascular system	7389	UROD	ORPHA:95159
HP:0001626	Abnormality of the cardiovascular system	54765	TRIM44	ORPHA:250923
HP:0001626	Abnormality of the cardiovascular system	1308	COL17A1	ORPHA:293381
HP:0001626	Abnormality of the cardiovascular system	4081	MAB21L1	OMIM:618479
HP:0001626	Abnormality of the cardiovascular system	4081	MAB21L1	ORPHA:495875
HP:0001626	Abnormality of the cardiovascular system	488	ATP2A2	ORPHA:218
HP:0001626	Abnormality of the cardiovascular system	2294	FOXF1	OMIM:265380
HP:0001626	Abnormality of the cardiovascular system	2294	FOXF1	ORPHA:210122
HP:0001626	Abnormality of the cardiovascular system	5447	POR	OMIM:201750
HP:0001626	Abnormality of the cardiovascular system	4076	CAPRIN1	OMIM:620782
HP:0001626	Abnormality of the cardiovascular system	374879	ZNF699	OMIM:619488
HP:0001626	Abnormality of the cardiovascular system	91179	SCARF2	OMIM:600920
HP:0001626	Abnormality of the cardiovascular system	117581	TWIST2	OMIM:200110
HP:0001626	Abnormality of the cardiovascular system	54870	QRICH1	OMIM:617982
HP:0001626	Abnormality of the cardiovascular system	79803	HPS6	OMIM:614075
HP:0001626	Abnormality of the cardiovascular system	9897	WASHC5	OMIM:220210
HP:0001626	Abnormality of the cardiovascular system	9897	WASHC5	ORPHA:7
HP:0001626	Abnormality of the cardiovascular system	10463	SLC30A9	OMIM:617595
HP:0001626	Abnormality of the cardiovascular system	28952	CCDC22	ORPHA:7
HP:0001626	Abnormality of the cardiovascular system	57020	VPS35L	ORPHA:7
HP:0001626	Abnormality of the cardiovascular system	56896	DPYSL5	ORPHA:7
HP:0001626	Abnormality of the cardiovascular system	11011	TLK2	OMIM:618050
HP:0001626	Abnormality of the cardiovascular system	1534	CYB561	OMIM:618182
HP:0001626	Abnormality of the cardiovascular system	6622	SNCA	OMIM:605543
HP:0001626	Abnormality of the cardiovascular system	1136	CHRNA3	OMIM:191800
HP:0001626	Abnormality of the cardiovascular system	84320	ACBD6	OMIM:620785
HP:0001626	Abnormality of the cardiovascular system	51142	CHCHD2	OMIM:616710
HP:0001626	Abnormality of the cardiovascular system	80208	SPG11	ORPHA:2822
HP:0001626	Abnormality of the cardiovascular system	4001	LMNB1	ORPHA:99027
HP:0001626	Abnormality of the cardiovascular system	4352	MPL	ORPHA:71493
HP:0001626	Abnormality of the cardiovascular system	7066	THPO	ORPHA:71493
HP:0001626	Abnormality of the cardiovascular system	3717	JAK2	ORPHA:71493
HP:0001626	Abnormality of the cardiovascular system	9992	KCNE2	OMIM:613693
HP:0001626	Abnormality of the cardiovascular system	9992	KCNE2	ORPHA:334
HP:0001626	Abnormality of the cardiovascular system	9992	KCNE2	ORPHA:101016
HP:0001626	Abnormality of the cardiovascular system	253017	TECRL	OMIM:614021
HP:0001626	Abnormality of the cardiovascular system	253017	TECRL	ORPHA:3286
HP:0001626	Abnormality of the cardiovascular system	3753	KCNE1	OMIM:613695
HP:0001626	Abnormality of the cardiovascular system	3753	KCNE1	ORPHA:334
HP:0001626	Abnormality of the cardiovascular system	3753	KCNE1	ORPHA:101016
HP:0001626	Abnormality of the cardiovascular system	3753	KCNE1	ORPHA:90647
HP:0001626	Abnormality of the cardiovascular system	3753	KCNE1	OMIM:612347
HP:0001626	Abnormality of the cardiovascular system	5663	PSEN1	OMIM:613694
HP:0001626	Abnormality of the cardiovascular system	5664	PSEN2	OMIM:613697
HP:0001626	Abnormality of the cardiovascular system	171023	ASXL1	ORPHA:98849
HP:0001626	Abnormality of the cardiovascular system	54790	TET2	ORPHA:98849
HP:0001626	Abnormality of the cardiovascular system	3815	KIT	ORPHA:98849
HP:0001626	Abnormality of the cardiovascular system	6427	SRSF2	ORPHA:98849
HP:0001626	Abnormality of the cardiovascular system	3757	KCNH2	OMIM:609620
HP:0001626	Abnormality of the cardiovascular system	3757	KCNH2	ORPHA:101016
HP:0001626	Abnormality of the cardiovascular system	3757	KCNH2	ORPHA:51083
HP:0001626	Abnormality of the cardiovascular system	3757	KCNH2	OMIM:613688
HP:0001626	Abnormality of the cardiovascular system	3784	KCNQ1	OMIM:609621
HP:0001626	Abnormality of the cardiovascular system	3784	KCNQ1	OMIM:192500
HP:0001626	Abnormality of the cardiovascular system	3784	KCNQ1	OMIM:607554
HP:0001626	Abnormality of the cardiovascular system	3784	KCNQ1	ORPHA:334
HP:0001626	Abnormality of the cardiovascular system	3784	KCNQ1	ORPHA:101016
HP:0001626	Abnormality of the cardiovascular system	3784	KCNQ1	OMIM:220400
HP:0001626	Abnormality of the cardiovascular system	3784	KCNQ1	ORPHA:51083
HP:0001626	Abnormality of the cardiovascular system	3784	KCNQ1	ORPHA:90647
HP:0001626	Abnormality of the cardiovascular system	10021	HCN4	OMIM:163800
HP:0001626	Abnormality of the cardiovascular system	10021	HCN4	ORPHA:130
HP:0001626	Abnormality of the cardiovascular system	3728	JUP	OMIM:601214
HP:0001626	Abnormality of the cardiovascular system	3728	JUP	OMIM:611528
HP:0001626	Abnormality of the cardiovascular system	70	ACTC1	OMIM:612098
HP:0001626	Abnormality of the cardiovascular system	70	ACTC1	ORPHA:99103
HP:0001626	Abnormality of the cardiovascular system	287	ANK2	OMIM:600919
HP:0001626	Abnormality of the cardiovascular system	287	ANK2	ORPHA:101016
HP:0001626	Abnormality of the cardiovascular system	3759	KCNJ2	OMIM:613980
HP:0001626	Abnormality of the cardiovascular system	3759	KCNJ2	ORPHA:334
HP:0001626	Abnormality of the cardiovascular system	3759	KCNJ2	OMIM:170390
HP:0001626	Abnormality of the cardiovascular system	3759	KCNJ2	ORPHA:51083
HP:0001626	Abnormality of the cardiovascular system	3759	KCNJ2	ORPHA:37553
HP:0001626	Abnormality of the cardiovascular system	1824	DSC2	OMIM:610476
HP:0001626	Abnormality of the cardiovascular system	6833	ABCC8	ORPHA:276575
HP:0001626	Abnormality of the cardiovascular system	100996717	NOTCH2NLC	OMIM:603472
HP:0001626	Abnormality of the cardiovascular system	3767	KCNJ11	ORPHA:276580
HP:0001626	Abnormality of the cardiovascular system	54795	TRPM4	OMIM:604559
HP:0001626	Abnormality of the cardiovascular system	54795	TRPM4	ORPHA:871
HP:0001626	Abnormality of the cardiovascular system	54795	TRPM4	ORPHA:130
HP:0001626	Abnormality of the cardiovascular system	2702	GJA5	ORPHA:334
HP:0001626	Abnormality of the cardiovascular system	3760	KCNJ3	ORPHA:334
HP:0001626	Abnormality of the cardiovascular system	3762	KCNJ5	ORPHA:334
HP:0001626	Abnormality of the cardiovascular system	3762	KCNJ5	ORPHA:101016
HP:0001626	Abnormality of the cardiovascular system	3762	KCNJ5	OMIM:613485
HP:0001626	Abnormality of the cardiovascular system	3762	KCNJ5	ORPHA:37553
HP:0001626	Abnormality of the cardiovascular system	4635	MYL4	ORPHA:334
HP:0001626	Abnormality of the cardiovascular system	1482	NKX2-5	ORPHA:334
HP:0001626	Abnormality of the cardiovascular system	1482	NKX2-5	ORPHA:871
HP:0001626	Abnormality of the cardiovascular system	1482	NKX2-5	ORPHA:99103
HP:0001626	Abnormality of the cardiovascular system	10060	ABCC9	ORPHA:334
HP:0001626	Abnormality of the cardiovascular system	10060	ABCC9	ORPHA:130
HP:0001626	Abnormality of the cardiovascular system	137814	NKX2-6	ORPHA:334
HP:0001626	Abnormality of the cardiovascular system	4878	NPPA	ORPHA:334
HP:0001626	Abnormality of the cardiovascular system	4878	NPPA	ORPHA:1344
HP:0001626	Abnormality of the cardiovascular system	55800	SCN3B	ORPHA:334
HP:0001626	Abnormality of the cardiovascular system	55800	SCN3B	ORPHA:130
HP:0001626	Abnormality of the cardiovascular system	6327	SCN2B	ORPHA:334
HP:0001626	Abnormality of the cardiovascular system	6327	SCN2B	ORPHA:130
HP:0001626	Abnormality of the cardiovascular system	140628	GATA5	ORPHA:334
HP:0001626	Abnormality of the cardiovascular system	6324	SCN1B	ORPHA:334
HP:0001626	Abnormality of the cardiovascular system	6324	SCN1B	ORPHA:871
HP:0001626	Abnormality of the cardiovascular system	6324	SCN1B	ORPHA:130
HP:0001626	Abnormality of the cardiovascular system	6331	SCN5A	ORPHA:334
HP:0001626	Abnormality of the cardiovascular system	6331	SCN5A	ORPHA:101016
HP:0001626	Abnormality of the cardiovascular system	6331	SCN5A	ORPHA:1344
HP:0001626	Abnormality of the cardiovascular system	6331	SCN5A	OMIM:601154
HP:0001626	Abnormality of the cardiovascular system	6331	SCN5A	OMIM:113900
HP:0001626	Abnormality of the cardiovascular system	6331	SCN5A	ORPHA:871
HP:0001626	Abnormality of the cardiovascular system	6331	SCN5A	OMIM:601144
HP:0001626	Abnormality of the cardiovascular system	6331	SCN5A	OMIM:603830
HP:0001626	Abnormality of the cardiovascular system	6331	SCN5A	ORPHA:130
HP:0001626	Abnormality of the cardiovascular system	6331	SCN5A	OMIM:603829
HP:0001626	Abnormality of the cardiovascular system	6330	SCN4B	ORPHA:334
HP:0001626	Abnormality of the cardiovascular system	6330	SCN4B	ORPHA:101016
HP:0001626	Abnormality of the cardiovascular system	3741	KCNA5	ORPHA:334
HP:0001626	Abnormality of the cardiovascular system	7273	TTN	ORPHA:334
HP:0001626	Abnormality of the cardiovascular system	9631	NUP155	ORPHA:334
HP:0001626	Abnormality of the cardiovascular system	801	CALM1	ORPHA:101016
HP:0001626	Abnormality of the cardiovascular system	801	CALM1	OMIM:614916
HP:0001626	Abnormality of the cardiovascular system	801	CALM1	ORPHA:3286
HP:0001626	Abnormality of the cardiovascular system	805	CALM2	ORPHA:101016
HP:0001626	Abnormality of the cardiovascular system	805	CALM2	OMIM:616249
HP:0001626	Abnormality of the cardiovascular system	805	CALM2	ORPHA:3286
HP:0001626	Abnormality of the cardiovascular system	6336	SCN10A	ORPHA:101016
HP:0001626	Abnormality of the cardiovascular system	6336	SCN10A	ORPHA:130
HP:0001626	Abnormality of the cardiovascular system	10142	AKAP9	ORPHA:101016
HP:0001626	Abnormality of the cardiovascular system	10142	AKAP9	ORPHA:130
HP:0001626	Abnormality of the cardiovascular system	10142	AKAP9	OMIM:611820
HP:0001626	Abnormality of the cardiovascular system	9722	NOS1AP	ORPHA:101016
HP:0001626	Abnormality of the cardiovascular system	775	CACNA1C	ORPHA:101016
HP:0001626	Abnormality of the cardiovascular system	775	CACNA1C	OMIM:611875
HP:0001626	Abnormality of the cardiovascular system	775	CACNA1C	ORPHA:130
HP:0001626	Abnormality of the cardiovascular system	775	CACNA1C	OMIM:618447
HP:0001626	Abnormality of the cardiovascular system	10345	TRDN	ORPHA:101016
HP:0001626	Abnormality of the cardiovascular system	10345	TRDN	OMIM:604772
HP:0001626	Abnormality of the cardiovascular system	10345	TRDN	OMIM:615441
HP:0001626	Abnormality of the cardiovascular system	10345	TRDN	ORPHA:3286
HP:0001626	Abnormality of the cardiovascular system	808	CALM3	ORPHA:101016
HP:0001626	Abnormality of the cardiovascular system	808	CALM3	ORPHA:3286
HP:0001626	Abnormality of the cardiovascular system	6640	SNTA1	ORPHA:101016
HP:0001626	Abnormality of the cardiovascular system	6640	SNTA1	OMIM:612955
HP:0001626	Abnormality of the cardiovascular system	859	CAV3	ORPHA:101016
HP:0001626	Abnormality of the cardiovascular system	859	CAV3	OMIM:611818
HP:0001626	Abnormality of the cardiovascular system	79572	ATP13A3	OMIM:265400
HP:0001626	Abnormality of the cardiovascular system	5318	PKP2	OMIM:609040
HP:0001626	Abnormality of the cardiovascular system	5318	PKP2	ORPHA:130
HP:0001626	Abnormality of the cardiovascular system	2783	GNB2	OMIM:619464
HP:0001626	Abnormality of the cardiovascular system	7134	TNNC1	OMIM:613243
HP:0001626	Abnormality of the cardiovascular system	9152	SLC6A5	OMIM:614618
HP:0001626	Abnormality of the cardiovascular system	781	CACNA2D1	ORPHA:51083
HP:0001626	Abnormality of the cardiovascular system	781	CACNA2D1	ORPHA:130
HP:0001626	Abnormality of the cardiovascular system	6508	SLC4A3	ORPHA:51083
HP:0001626	Abnormality of the cardiovascular system	6508	SLC4A3	OMIM:620231
HP:0001626	Abnormality of the cardiovascular system	7092	TLL1	ORPHA:99106
HP:0001626	Abnormality of the cardiovascular system	7092	TLL1	ORPHA:99103
HP:0001626	Abnormality of the cardiovascular system	57057	TBX20	ORPHA:99103
HP:0001626	Abnormality of the cardiovascular system	4624	MYH6	ORPHA:99103
HP:0001626	Abnormality of the cardiovascular system	10370	CITED2	ORPHA:99103
HP:0001626	Abnormality of the cardiovascular system	1621	DBH	ORPHA:230
HP:0001626	Abnormality of the cardiovascular system	4607	MYBPC3	OMIM:115197
HP:0001626	Abnormality of the cardiovascular system	4607	MYBPC3	OMIM:615396
HP:0001626	Abnormality of the cardiovascular system	51422	PRKAG2	OMIM:600858
HP:0001626	Abnormality of the cardiovascular system	51422	PRKAG2	OMIM:194200
HP:0001626	Abnormality of the cardiovascular system	4771	NF2	ORPHA:2495
HP:0001626	Abnormality of the cardiovascular system	5155	PDGFB	ORPHA:2495
HP:0001626	Abnormality of the cardiovascular system	84231	TRAF7	ORPHA:2495
HP:0001626	Abnormality of the cardiovascular system	6605	SMARCE1	ORPHA:2495
HP:0001626	Abnormality of the cardiovascular system	783	CACNB2	OMIM:611876
HP:0001626	Abnormality of the cardiovascular system	783	CACNB2	ORPHA:130
HP:0001626	Abnormality of the cardiovascular system	84665	MYPN	ORPHA:75249
HP:0001626	Abnormality of the cardiovascular system	7139	TNNT2	ORPHA:75249
HP:0001626	Abnormality of the cardiovascular system	7137	TNNI3	ORPHA:75249
HP:0001626	Abnormality of the cardiovascular system	10112	KIF20A	ORPHA:75249
HP:0001626	Abnormality of the cardiovascular system	845	CASQ2	OMIM:604772
HP:0001626	Abnormality of the cardiovascular system	845	CASQ2	ORPHA:3286
HP:0001626	Abnormality of the cardiovascular system	845	CASQ2	OMIM:611938
HP:0001626	Abnormality of the cardiovascular system	6262	RYR2	OMIM:604772
HP:0001626	Abnormality of the cardiovascular system	6262	RYR2	ORPHA:3286
HP:0001626	Abnormality of the cardiovascular system	11149	POPDC1	OMIM:616812
HP:0001626	Abnormality of the cardiovascular system	23630	KCNE5	ORPHA:130
HP:0001626	Abnormality of the cardiovascular system	3764	KCNJ8	ORPHA:130
HP:0001626	Abnormality of the cardiovascular system	3752	KCND3	ORPHA:130
HP:0001626	Abnormality of the cardiovascular system	7871	SLMAP	ORPHA:130
HP:0001626	Abnormality of the cardiovascular system	29098	RANGRF	ORPHA:130
HP:0001626	Abnormality of the cardiovascular system	10008	KCNE3	ORPHA:130
HP:0001626	Abnormality of the cardiovascular system	6337	SCNN1A	ORPHA:130
HP:0001626	Abnormality of the cardiovascular system	23171	GPD1L	ORPHA:130
HP:0001626	Abnormality of the cardiovascular system	23171	GPD1L	OMIM:611777
HP:0001626	Abnormality of the cardiovascular system	1512	CTSH	ORPHA:2073
HP:0001626	Abnormality of the cardiovascular system	5032	P2RY11	ORPHA:2073
HP:0001626	Abnormality of the cardiovascular system	4340	MOG	ORPHA:2073
HP:0001626	Abnormality of the cardiovascular system	3119	HLA-DQB1	ORPHA:2073
HP:0001626	Abnormality of the cardiovascular system	3060	HCRT	ORPHA:2073
HP:0001626	Abnormality of the cardiovascular system	22891	ZNF365	ORPHA:2073
HP:0001626	Abnormality of the cardiovascular system	7292	TNFSF4	ORPHA:2073
HP:0001626	Abnormality of the cardiovascular system	3123	HLA-DRB1	ORPHA:2073
HP:0001626	Abnormality of the cardiovascular system	54941	RNF125	OMIM:616260
HP:0001626	Abnormality of the cardiovascular system	3920	LAMP2	OMIM:300257
HP:0001626	Abnormality of the cardiovascular system	51778	MYOZ2	OMIM:613838
HP:0001626	Abnormality of the cardiovascular system	4914	NTRK1	ORPHA:642
HP:0001626	Abnormality of the cardiovascular system	6927	HNF1A	ORPHA:324575
HP:0001626	Abnormality of the cardiovascular system	776	CACNA1D	OMIM:614896
HP:0001626	Abnormality of the cardiovascular system	144245	ALG10B	OMIM:613688
HP:0001626	Abnormality of the cardiovascular system	7351	UCP2	ORPHA:276556
HP:0001626	Abnormality of the cardiovascular system	1188	CLCNKB	ORPHA:358
HP:0001626	Abnormality of the cardiovascular system	6559	SLC12A3	ORPHA:358
HP:0001626	Abnormality of the cardiovascular system	4524	MTHFR	ORPHA:395
HP:0001626	Abnormality of the cardiovascular system	4524	MTHFR	OMIM:236250
HP:0001626	Abnormality of the cardiovascular system	55503	TRPV6	OMIM:618188
HP:0001626	Abnormality of the cardiovascular system	5009	OTC	OMIM:311250
HP:0001626	Abnormality of the cardiovascular system	2997	GYS1	OMIM:611556
HP:0001626	Abnormality of the cardiovascular system	7174	TPP2	ORPHA:444463
HP:0001626	Abnormality of the cardiovascular system	5346	PLIN1	OMIM:613877
HP:0001626	Abnormality of the cardiovascular system	55107	ANO1	OMIM:620687
HP:0001626	Abnormality of the cardiovascular system	1471	CST3	OMIM:105150
HP:0001626	Abnormality of the cardiovascular system	1471	CST3	ORPHA:100008
HP:0001626	Abnormality of the cardiovascular system	80206	FHOD3	OMIM:619402
HP:0001626	Abnormality of the cardiovascular system	182	JAG1	OMIM:118450
HP:0001626	Abnormality of the cardiovascular system	4846	NOS3	OMIM:601367
HP:0001626	Abnormality of the cardiovascular system	5583	PRKCH	OMIM:601367
HP:0001626	Abnormality of the cardiovascular system	241	ALOX5AP	OMIM:601367
HP:0001626	Abnormality of the cardiovascular system	727676	SNORD118	ORPHA:542310
HP:0001626	Abnormality of the cardiovascular system	162417	NAGS	ORPHA:927
HP:0001626	Abnormality of the cardiovascular system	445	ASS1	OMIM:215700
HP:0001626	Abnormality of the cardiovascular system	5286	PIK3C2A	ORPHA:557003
HP:0001626	Abnormality of the cardiovascular system	4860	PNP	ORPHA:760
HP:0001626	Abnormality of the cardiovascular system	1373	CPS1	OMIM:237300
HP:0001626	Abnormality of the cardiovascular system	4594	MMUT	ORPHA:79312
HP:0001626	Abnormality of the cardiovascular system	25978	CHMP2B	ORPHA:100070
HP:0001626	Abnormality of the cardiovascular system	2896	GRN	ORPHA:100070
HP:0001626	Abnormality of the cardiovascular system	54664	TMEM106B	ORPHA:100070
HP:0001626	Abnormality of the cardiovascular system	54209	TREM2	ORPHA:100070
HP:0001626	Abnormality of the cardiovascular system	2582	GALE	OMIM:620776
HP:0001626	Abnormality of the cardiovascular system	861	RUNX1	ORPHA:98850
HP:0001626	Abnormality of the cardiovascular system	5314	PKHD1	OMIM:263200
HP:0001626	Abnormality of the cardiovascular system	5314	PKHD1	ORPHA:53035
HP:0001626	Abnormality of the cardiovascular system	5314	PKHD1	ORPHA:731
HP:0001626	Abnormality of the cardiovascular system	55532	SLC30A10	ORPHA:309854
HP:0001626	Abnormality of the cardiovascular system	2632	GBE1	OMIM:232500
HP:0001626	Abnormality of the cardiovascular system	9414	TJP2	OMIM:615878
HP:0001626	Abnormality of the cardiovascular system	811	CALR	ORPHA:824
HP:0001626	Abnormality of the cardiovascular system	811	CALR	ORPHA:131
HP:0001626	Abnormality of the cardiovascular system	10056	FARSB	OMIM:613658
HP:0001626	Abnormality of the cardiovascular system	3594	IL12RB1	ORPHA:186
HP:0001626	Abnormality of the cardiovascular system	23534	TNPO3	ORPHA:186
HP:0001626	Abnormality of the cardiovascular system	3592	IL12A	ORPHA:186
HP:0001626	Abnormality of the cardiovascular system	6689	SPIB	ORPHA:186
HP:0001626	Abnormality of the cardiovascular system	5450	POU2AF1	ORPHA:186
HP:0001626	Abnormality of the cardiovascular system	9966	TNFSF15	ORPHA:186
HP:0001626	Abnormality of the cardiovascular system	79258	MMEL1	ORPHA:186
HP:0001626	Abnormality of the cardiovascular system	100147744	RNU7-1	OMIM:619487
HP:0001626	Abnormality of the cardiovascular system	79991	STN1	OMIM:617341
HP:0001626	Abnormality of the cardiovascular system	27031	NPHP3	OMIM:208540
HP:0001626	Abnormality of the cardiovascular system	27031	NPHP3	OMIM:267010
HP:0001626	Abnormality of the cardiovascular system	83737	ITCH	OMIM:613385
HP:0001626	Abnormality of the cardiovascular system	83737	ITCH	ORPHA:228426
HP:0001626	Abnormality of the cardiovascular system	1716	DGUOK	OMIM:617068
HP:0001626	Abnormality of the cardiovascular system	1716	DGUOK	OMIM:251880
HP:0001626	Abnormality of the cardiovascular system	50674	NEUROG3	ORPHA:83620
HP:0001626	Abnormality of the cardiovascular system	84936	ZFYVE19	OMIM:619849
HP:0001626	Abnormality of the cardiovascular system	169792	GLIS3	OMIM:610199
HP:0001626	Abnormality of the cardiovascular system	51473	DCDC2	ORPHA:84081
HP:0001626	Abnormality of the cardiovascular system	51473	DCDC2	OMIM:617394
HP:0001626	Abnormality of the cardiovascular system	23729	SHPK	ORPHA:440713
HP:0001626	Abnormality of the cardiovascular system	9076	CLDN1	ORPHA:59303
HP:0001626	Abnormality of the cardiovascular system	9076	CLDN1	OMIM:607626
HP:0001626	Abnormality of the cardiovascular system	5698	PSMB9	OMIM:620796
HP:0001626	Abnormality of the cardiovascular system	51085	MLXIPL	OMIM:194050
HP:0001626	Abnormality of the cardiovascular system	3516	RBPJ	ORPHA:974
HP:0001626	Abnormality of the cardiovascular system	4851	NOTCH1	ORPHA:974
HP:0001626	Abnormality of the cardiovascular system	57514	ARHGAP31	ORPHA:974
HP:0001626	Abnormality of the cardiovascular system	57572	DOCK6	ORPHA:974
HP:0001626	Abnormality of the cardiovascular system	285203	EOGT	ORPHA:974
HP:0001626	Abnormality of the cardiovascular system	54567	DLL4	ORPHA:974
HP:0001626	Abnormality of the cardiovascular system	54567	DLL4	OMIM:616589
HP:0001626	Abnormality of the cardiovascular system	199221	DZIP1L	ORPHA:731
HP:0001626	Abnormality of the cardiovascular system	4351	MPI	ORPHA:79319
HP:0001626	Abnormality of the cardiovascular system	2153	F5	ORPHA:131
HP:0001626	Abnormality of the cardiovascular system	79989	IFT56	OMIM:619534
HP:0001626	Abnormality of the cardiovascular system	3988	LIPA	OMIM:278000
HP:0001626	Abnormality of the cardiovascular system	5557	PRIM1	OMIM:620005
HP:0001626	Abnormality of the cardiovascular system	92345	NAF1	OMIM:620365
HP:0001626	Abnormality of the cardiovascular system	3431	SP110	ORPHA:79124
HP:0001626	Abnormality of the cardiovascular system	5825	ABCD3	OMIM:616278
HP:0001626	Abnormality of the cardiovascular system	93183	PIGM	OMIM:610293
HP:0001626	Abnormality of the cardiovascular system	55340	GIMAP5	OMIM:619463
HP:0001626	Abnormality of the cardiovascular system	113220	KIF12	OMIM:619662
HP:0001626	Abnormality of the cardiovascular system	7289	TULP3	OMIM:619902
HP:0001626	Abnormality of the cardiovascular system	2629	GBA1	ORPHA:77259
HP:0001626	Abnormality of the cardiovascular system	950	SCARB2	ORPHA:77259
HP:0001626	Abnormality of the cardiovascular system	10466	COG5	ORPHA:263487
HP:0001626	Abnormality of the cardiovascular system	55823	VPS11	ORPHA:466934
HP:0001626	Abnormality of the cardiovascular system	3716	JAK1	OMIM:618999
HP:0001626	Abnormality of the cardiovascular system	2122	MECOM	OMIM:616738
HP:0001626	Abnormality of the cardiovascular system	5251	PHEX	OMIM:307800
HP:0001626	Abnormality of the cardiovascular system	915	CD3D	ORPHA:169160
HP:0001626	Abnormality of the cardiovascular system	916	CD3E	ORPHA:169160
HP:0001626	Abnormality of the cardiovascular system	1777	DNASE2	OMIM:619858
HP:0001626	Abnormality of the cardiovascular system	3376	IARS1	ORPHA:541423
HP:0001626	Abnormality of the cardiovascular system	2584	GALK1	ORPHA:79237
HP:0001626	Abnormality of the cardiovascular system	9371	KIF3B	OMIM:618955
HP:0001626	Abnormality of the cardiovascular system	2729	GCLC	ORPHA:33574
HP:0001626	Abnormality of the cardiovascular system	7030	TFE3	OMIM:301066
HP:0001626	Abnormality of the cardiovascular system	2193	FARSA	OMIM:619013
HP:0001626	Abnormality of the cardiovascular system	1513	CTSK	ORPHA:763
HP:0001626	Abnormality of the cardiovascular system	129563	DIS3L2	OMIM:267000
HP:0001626	Abnormality of the cardiovascular system	6711	SPTBN1	OMIM:619475
HP:0001626	Abnormality of the cardiovascular system	2318	FLNC	ORPHA:63273
HP:0001626	Abnormality of the cardiovascular system	6804	STX1A	ORPHA:904
HP:0001626	Abnormality of the cardiovascular system	7461	CLIP2	ORPHA:904
HP:0001626	Abnormality of the cardiovascular system	84277	DNAJC30	ORPHA:904
HP:0001626	Abnormality of the cardiovascular system	8468	FKBP6	ORPHA:904
HP:0001626	Abnormality of the cardiovascular system	5982	RFC2	ORPHA:904
HP:0001626	Abnormality of the cardiovascular system	2969	GTF2I	ORPHA:904
HP:0001626	Abnormality of the cardiovascular system	3984	LIMK1	ORPHA:904
HP:0001626	Abnormality of the cardiovascular system	9569	GTF2IRD1	ORPHA:904
HP:0001626	Abnormality of the cardiovascular system	155382	VPS37D	ORPHA:904
HP:0001626	Abnormality of the cardiovascular system	155368	METTL27	ORPHA:904
HP:0001626	Abnormality of the cardiovascular system	114049	BUD23	ORPHA:904
HP:0001626	Abnormality of the cardiovascular system	7458	EIF4H	ORPHA:904
HP:0001626	Abnormality of the cardiovascular system	84163	GTF2IRD2	ORPHA:904
HP:0001626	Abnormality of the cardiovascular system	26608	TBL2	ORPHA:904
HP:0001626	Abnormality of the cardiovascular system	653361	NCF1	ORPHA:904
HP:0001626	Abnormality of the cardiovascular system	135886	TMEM270	ORPHA:904
HP:0001626	Abnormality of the cardiovascular system	9031	BAZ1B	ORPHA:904
HP:0001626	Abnormality of the cardiovascular system	2006	ELN	ORPHA:904
HP:0001626	Abnormality of the cardiovascular system	203547	VMA21	OMIM:310440
HP:0001626	Abnormality of the cardiovascular system	2200	FBN1	ORPHA:284979
HP:0001626	Abnormality of the cardiovascular system	2517	FUCA1	ORPHA:349
HP:0001626	Abnormality of the cardiovascular system	2317	FLNB	ORPHA:503
HP:0001626	Abnormality of the cardiovascular system	5339	PLEC	ORPHA:254361
HP:0001626	Abnormality of the cardiovascular system	3043	HBB	ORPHA:231222
HP:0001626	Abnormality of the cardiovascular system	7018	TF	ORPHA:1195
HP:0001626	Abnormality of the cardiovascular system	3481	IGF2	ORPHA:397590
HP:0001626	Abnormality of the cardiovascular system	3481	IGF2	OMIM:180860
HP:0001626	Abnormality of the cardiovascular system	1028	CDKN1C	ORPHA:397590
HP:0001626	Abnormality of the cardiovascular system	5324	PLAG1	ORPHA:397590
HP:0001626	Abnormality of the cardiovascular system	8091	HMGA2	ORPHA:397590
HP:0001626	Abnormality of the cardiovascular system	3845	KRAS	ORPHA:3339
HP:0001626	Abnormality of the cardiovascular system	4552	MTRR	ORPHA:2169
HP:0001626	Abnormality of the cardiovascular system	10681	GNB5	ORPHA:542306
HP:0001626	Abnormality of the cardiovascular system	11155	LDB3	ORPHA:98912
HP:0001626	Abnormality of the cardiovascular system	93035	PKHD1L1	OMIM:620794
HP:0001626	Abnormality of the cardiovascular system	729920	CRPPA	ORPHA:352479
HP:0001626	Abnormality of the cardiovascular system	2313	FLI1	ORPHA:851
HP:0001626	Abnormality of the cardiovascular system	3090	HIC1	ORPHA:531
HP:0001626	Abnormality of the cardiovascular system	5048	PAFAH1B1	ORPHA:531
HP:0001626	Abnormality of the cardiovascular system	7531	YWHAE	ORPHA:531
HP:0001626	Abnormality of the cardiovascular system	6748	SSR4	ORPHA:370927
HP:0001626	Abnormality of the cardiovascular system	84196	USP48	ORPHA:96253
HP:0001626	Abnormality of the cardiovascular system	7157	TP53	ORPHA:96253
HP:0001626	Abnormality of the cardiovascular system	9101	USP8	ORPHA:96253
HP:0001626	Abnormality of the cardiovascular system	64072	CDH23	ORPHA:96253
HP:0001626	Abnormality of the cardiovascular system	2908	NR3C1	ORPHA:96253
HP:0001626	Abnormality of the cardiovascular system	673	BRAF	ORPHA:96253
HP:0001626	Abnormality of the cardiovascular system	546	ATRX	ORPHA:96253
HP:0001626	Abnormality of the cardiovascular system	2395	FXN	OMIM:229300
HP:0001626	Abnormality of the cardiovascular system	6389	SDHA	ORPHA:3208
HP:0001626	Abnormality of the cardiovascular system	6390	SDHB	ORPHA:3208
HP:0001626	Abnormality of the cardiovascular system	6392	SDHD	ORPHA:3208
HP:0001626	Abnormality of the cardiovascular system	644096	SDHAF1	ORPHA:3208
HP:0001626	Abnormality of the cardiovascular system	201163	FLCN	OMIM:610883
HP:0001626	Abnormality of the cardiovascular system	4313	MMP2	ORPHA:371428
HP:0001626	Abnormality of the cardiovascular system	4323	MMP14	ORPHA:371428
HP:0001626	Abnormality of the cardiovascular system	1832	DSP	OMIM:605676
HP:0001626	Abnormality of the cardiovascular system	4556	MT-TE	ORPHA:254864
HP:0001626	Abnormality of the cardiovascular system	55687	TRMU	ORPHA:254864
HP:0001626	Abnormality of the cardiovascular system	1291	COL6A1	OMIM:158810
HP:0001626	Abnormality of the cardiovascular system	5290	PIK3CA	OMIM:615108
HP:0001626	Abnormality of the cardiovascular system	207	AKT1	OMIM:615109
HP:0001626	Abnormality of the cardiovascular system	8291	DYSF	ORPHA:45448
HP:0001626	Abnormality of the cardiovascular system	10682	EBP	ORPHA:401973
HP:0001626	Abnormality of the cardiovascular system	4088	SMAD3	ORPHA:284984
HP:0001626	Abnormality of the cardiovascular system	58499	ZNF462	ORPHA:502430
HP:0001626	Abnormality of the cardiovascular system	388015	RTL1	ORPHA:254534
HP:0001626	Abnormality of the cardiovascular system	388015	RTL1	ORPHA:254525
HP:0001626	Abnormality of the cardiovascular system	8788	DLK1	ORPHA:254534
HP:0001626	Abnormality of the cardiovascular system	8788	DLK1	ORPHA:254525
HP:0001626	Abnormality of the cardiovascular system	55384	MEG3	ORPHA:254534
HP:0001626	Abnormality of the cardiovascular system	55384	MEG3	ORPHA:254525
HP:0001626	Abnormality of the cardiovascular system	1859	DYRK1A	ORPHA:268261
HP:0001626	Abnormality of the cardiovascular system	123606	NIPA1	ORPHA:261183
HP:0001626	Abnormality of the cardiovascular system	7283	TUBG1	ORPHA:261183
HP:0001626	Abnormality of the cardiovascular system	81614	NIPA2	ORPHA:261183
HP:0001626	Abnormality of the cardiovascular system	23592	LEMD3	ORPHA:166119
HP:0001626	Abnormality of the cardiovascular system	7355	SLC35A2	ORPHA:356961
HP:0001626	Abnormality of the cardiovascular system	9839	ZEB2	OMIM:235730
HP:0001626	Abnormality of the cardiovascular system	9839	ZEB2	ORPHA:261552
HP:0001626	Abnormality of the cardiovascular system	9839	ZEB2	ORPHA:261537
HP:0001626	Abnormality of the cardiovascular system	23126	POGZ	ORPHA:468678
HP:0001626	Abnormality of the cardiovascular system	10297	APC2	ORPHA:821
HP:0001626	Abnormality of the cardiovascular system	55209	SETD5	ORPHA:404440
HP:0001626	Abnormality of the cardiovascular system	3190	HNRNPK	ORPHA:453504
HP:0001626	Abnormality of the cardiovascular system	3190	HNRNPK	ORPHA:352665
HP:0001626	Abnormality of the cardiovascular system	8085	KMT2D	ORPHA:2322
HP:0001626	Abnormality of the cardiovascular system	7403	KDM6A	ORPHA:2322
HP:0001626	Abnormality of the cardiovascular system	7086	TKT	ORPHA:488618
HP:0001626	Abnormality of the cardiovascular system	5053	PAH	ORPHA:2209
HP:0001626	Abnormality of the cardiovascular system	6774	STAT3	ORPHA:99885
HP:0001626	Abnormality of the cardiovascular system	2645	GCK	ORPHA:99885
HP:0001626	Abnormality of the cardiovascular system	3651	PDX1	ORPHA:99885
HP:0001626	Abnormality of the cardiovascular system	3630	INS	ORPHA:99885
HP:0001626	Abnormality of the cardiovascular system	2067	ERCC1	OMIM:610758
HP:0001626	Abnormality of the cardiovascular system	346171	ZFP57	ORPHA:99886
HP:0001626	Abnormality of the cardiovascular system	57061	HYMAI	ORPHA:99886
HP:0001626	Abnormality of the cardiovascular system	5325	PLAGL1	ORPHA:99886
HP:0001626	Abnormality of the cardiovascular system	134218	DNAJC21	ORPHA:811
HP:0001626	Abnormality of the cardiovascular system	79631	EFL1	ORPHA:811
HP:0001626	Abnormality of the cardiovascular system	51119	SBDS	ORPHA:811
HP:0001626	Abnormality of the cardiovascular system	55650	PIGV	OMIM:239300
HP:0001626	Abnormality of the cardiovascular system	51132	RLIM	OMIM:300978
HP:0001626	Abnormality of the cardiovascular system	284058	KANSL1	ORPHA:363958
HP:0001626	Abnormality of the cardiovascular system	284058	KANSL1	ORPHA:363965
HP:0001626	Abnormality of the cardiovascular system	113189	CHST14	ORPHA:2953
HP:0001626	Abnormality of the cardiovascular system	29940	DSE	ORPHA:2953
HP:0001626	Abnormality of the cardiovascular system	6597	SMARCA4	ORPHA:1465
HP:0001626	Abnormality of the cardiovascular system	6659	SOX4	ORPHA:1465
HP:0001626	Abnormality of the cardiovascular system	8289	ARID1A	ORPHA:1465
HP:0001626	Abnormality of the cardiovascular system	8289	ARID1A	OMIM:614607
HP:0001626	Abnormality of the cardiovascular system	5977	DPF2	ORPHA:1465
HP:0001626	Abnormality of the cardiovascular system	6601	SMARCC2	ORPHA:1465
HP:0001626	Abnormality of the cardiovascular system	6602	SMARCD1	ORPHA:1465
HP:0001626	Abnormality of the cardiovascular system	196528	ARID2	ORPHA:1465
HP:0001626	Abnormality of the cardiovascular system	6664	SOX11	ORPHA:1465
HP:0001626	Abnormality of the cardiovascular system	23389	MED13L	ORPHA:369891
HP:0001626	Abnormality of the cardiovascular system	55863	TMEM126B	OMIM:618250
HP:0001626	Abnormality of the cardiovascular system	25942	SIN3A	ORPHA:94065
HP:0001626	Abnormality of the cardiovascular system	58	ACTA1	ORPHA:2020
HP:0001626	Abnormality of the cardiovascular system	4633	MYL2	ORPHA:2020
HP:0001626	Abnormality of the cardiovascular system	3679	ITGA7	ORPHA:2020
HP:0001626	Abnormality of the cardiovascular system	9200	HACD1	ORPHA:2020
HP:0001626	Abnormality of the cardiovascular system	51776	MAP3K20	ORPHA:2020
HP:0001626	Abnormality of the cardiovascular system	2178	FANCE	OMIM:600901
HP:0001626	Abnormality of the cardiovascular system	26053	AUTS2	ORPHA:352490
HP:0001626	Abnormality of the cardiovascular system	79796	ALG9	OMIM:263210
HP:0001626	Abnormality of the cardiovascular system	79796	ALG9	ORPHA:79328
HP:0001626	Abnormality of the cardiovascular system	1822	ATN1	OMIM:618494
HP:0001626	Abnormality of the cardiovascular system	6491	STIL	ORPHA:93926
HP:0001626	Abnormality of the cardiovascular system	6491	STIL	ORPHA:93924
HP:0001626	Abnormality of the cardiovascular system	6491	STIL	ORPHA:93925
HP:0001626	Abnormality of the cardiovascular system	6491	STIL	ORPHA:220386
HP:0001626	Abnormality of the cardiovascular system	23007	PLCH1	ORPHA:93925
HP:0001626	Abnormality of the cardiovascular system	10735	STAG2	ORPHA:93925
HP:0001626	Abnormality of the cardiovascular system	10735	STAG2	ORPHA:220386
HP:0001626	Abnormality of the cardiovascular system	657	BMPR1A	ORPHA:79076
HP:0001626	Abnormality of the cardiovascular system	6638	SNRPN	ORPHA:177907
HP:0001626	Abnormality of the cardiovascular system	26040	SETBP1	ORPHA:798
HP:0001626	Abnormality of the cardiovascular system	9056	SLC7A7	ORPHA:470
HP:0001626	Abnormality of the cardiovascular system	92482	BBIP1	ORPHA:110
HP:0001626	Abnormality of the cardiovascular system	11020	IFT27	ORPHA:110
HP:0001626	Abnormality of the cardiovascular system	582	BBS1	ORPHA:110
HP:0001626	Abnormality of the cardiovascular system	49855	SCAPER	ORPHA:110
HP:0001626	Abnormality of the cardiovascular system	51057	WDPCP	ORPHA:110
HP:0001626	Abnormality of the cardiovascular system	132320	SCLT1	ORPHA:110
HP:0001626	Abnormality of the cardiovascular system	27241	BBS9	ORPHA:110
HP:0001626	Abnormality of the cardiovascular system	22954	TRIM32	ORPHA:110
HP:0001626	Abnormality of the cardiovascular system	79738	BBS10	ORPHA:110
HP:0001626	Abnormality of the cardiovascular system	123016	TTC8	ORPHA:110
HP:0001626	Abnormality of the cardiovascular system	26160	IFT172	ORPHA:110
HP:0001626	Abnormality of the cardiovascular system	583	BBS2	ORPHA:110
HP:0001626	Abnormality of the cardiovascular system	585	BBS4	ORPHA:110
HP:0001626	Abnormality of the cardiovascular system	54585	LZTFL1	ORPHA:110
HP:0001626	Abnormality of the cardiovascular system	55212	BBS7	ORPHA:110
HP:0001626	Abnormality of the cardiovascular system	166379	BBS12	ORPHA:110
HP:0001626	Abnormality of the cardiovascular system	10806	SDCCAG8	ORPHA:110
HP:0001626	Abnormality of the cardiovascular system	157657	CFAP418	ORPHA:110
HP:0001626	Abnormality of the cardiovascular system	84100	ARL6	ORPHA:110
HP:0001626	Abnormality of the cardiovascular system	129880	BBS5	ORPHA:110
HP:0001626	Abnormality of the cardiovascular system	4613	MYCN	ORPHA:391641
HP:0001626	Abnormality of the cardiovascular system	51604	PIGT	ORPHA:369837
HP:0001626	Abnormality of the cardiovascular system	2737	GLI3	OMIM:175700
HP:0001626	Abnormality of the cardiovascular system	29957	SLC25A24	OMIM:612289
HP:0001626	Abnormality of the cardiovascular system	56052	ALG1	ORPHA:79327
HP:0001626	Abnormality of the cardiovascular system	2887	GRB10	ORPHA:96182
HP:0001626	Abnormality of the cardiovascular system	4247	MGAT2	ORPHA:79329
HP:0001626	Abnormality of the cardiovascular system	79228	THOC6	ORPHA:363444
HP:0001626	Abnormality of the cardiovascular system	1457	CSNK2A1	OMIM:617062
HP:0001626	Abnormality of the cardiovascular system	79813	EHMT1	ORPHA:261652
HP:0001626	Abnormality of the cardiovascular system	58508	KMT2C	ORPHA:261652
HP:0001626	Abnormality of the cardiovascular system	27086	FOXP1	ORPHA:391372
HP:0001626	Abnormality of the cardiovascular system	3708	ITPR1	OMIM:117360
HP:0001626	Abnormality of the cardiovascular system	79633	FAT4	ORPHA:314679
HP:0001626	Abnormality of the cardiovascular system	8642	DCHS1	ORPHA:314679
HP:0001626	Abnormality of the cardiovascular system	9968	MED12	OMIM:305450
HP:0001626	Abnormality of the cardiovascular system	4920	ROR2	OMIM:268310
HP:0001626	Abnormality of the cardiovascular system	51322	WAC	ORPHA:284169
HP:0001626	Abnormality of the cardiovascular system	2177	FANCD2	OMIM:227646
HP:0001626	Abnormality of the cardiovascular system	5889	RAD51C	OMIM:613390
HP:0001626	Abnormality of the cardiovascular system	5528	PPP2R5D	ORPHA:457279
HP:0001626	Abnormality of the cardiovascular system	6651	SON	ORPHA:500150
HP:0001626	Abnormality of the cardiovascular system	2625	GATA3	ORPHA:2237
HP:0001626	Abnormality of the cardiovascular system	5879	RAC1	ORPHA:500159
HP:0001626	Abnormality of the cardiovascular system	25974	MMACHC	ORPHA:79282
HP:0001626	Abnormality of the cardiovascular system	55681	SCYL2	ORPHA:1143
HP:0001626	Abnormality of the cardiovascular system	84570	COL25A1	ORPHA:1143
HP:0001626	Abnormality of the cardiovascular system	55788	LMBRD1	ORPHA:79284
HP:0001626	Abnormality of the cardiovascular system	6885	MAP3K7	ORPHA:1826
HP:0001626	Abnormality of the cardiovascular system	10210	TOPORS	ORPHA:2754
HP:0001626	Abnormality of the cardiovascular system	317662	FAM149B1	ORPHA:2754
HP:0001626	Abnormality of the cardiovascular system	9203	ZMYM3	OMIM:301111
HP:0001626	Abnormality of the cardiovascular system	6138	RPL15	ORPHA:124
HP:0001626	Abnormality of the cardiovascular system	6224	RPS20	ORPHA:124
HP:0001626	Abnormality of the cardiovascular system	6165	RPL35A	ORPHA:124
HP:0001626	Abnormality of the cardiovascular system	6132	RPL8	ORPHA:124
HP:0001626	Abnormality of the cardiovascular system	6232	RPS27	ORPHA:124
HP:0001626	Abnormality of the cardiovascular system	55027	HEATR3	ORPHA:124
HP:0001626	Abnormality of the cardiovascular system	6160	RPL31	ORPHA:124
HP:0001626	Abnormality of the cardiovascular system	6201	RPS7	ORPHA:124
HP:0001626	Abnormality of the cardiovascular system	6155	RPL27	ORPHA:124
HP:0001626	Abnormality of the cardiovascular system	6234	RPS28	ORPHA:124
HP:0001626	Abnormality of the cardiovascular system	6135	RPL11	ORPHA:124
HP:0001626	Abnormality of the cardiovascular system	6229	RPS24	ORPHA:124
HP:0001626	Abnormality of the cardiovascular system	6125	RPL5	ORPHA:124
HP:0001626	Abnormality of the cardiovascular system	6204	RPS10	ORPHA:124
HP:0001626	Abnormality of the cardiovascular system	2623	GATA1	ORPHA:124
HP:0001626	Abnormality of the cardiovascular system	6133	RPL9	ORPHA:124
HP:0001626	Abnormality of the cardiovascular system	6231	RPS26	ORPHA:124
HP:0001626	Abnormality of the cardiovascular system	11224	RPL35	ORPHA:124
HP:0001626	Abnormality of the cardiovascular system	6218	RPS17	ORPHA:124
HP:0001626	Abnormality of the cardiovascular system	6154	RPL26	ORPHA:124
HP:0001626	Abnormality of the cardiovascular system	6210	RPS15A	ORPHA:124
HP:0001626	Abnormality of the cardiovascular system	90121	TSR2	ORPHA:124
HP:0001626	Abnormality of the cardiovascular system	6141	RPL18	ORPHA:124
HP:0001626	Abnormality of the cardiovascular system	6235	RPS29	ORPHA:124
HP:0001626	Abnormality of the cardiovascular system	25970	SH2B1	ORPHA:261197
HP:0001626	Abnormality of the cardiovascular system	5087	PBX1	OMIM:617641
HP:0001626	Abnormality of the cardiovascular system	26173	INTS1	OMIM:618571
HP:0001626	Abnormality of the cardiovascular system	4281	MID1	ORPHA:2745
HP:0001626	Abnormality of the cardiovascular system	9652	SKIC3	ORPHA:84064
HP:0001626	Abnormality of the cardiovascular system	6499	SKIC2	ORPHA:84064
HP:0001626	Abnormality of the cardiovascular system	5813	PURA	ORPHA:314655
HP:0001626	Abnormality of the cardiovascular system	28981	IFT81	OMIM:617895
HP:0001626	Abnormality of the cardiovascular system	51126	NAA20	OMIM:619717
HP:0001626	Abnormality of the cardiovascular system	91801	ALKBH8	OMIM:618504
HP:0001626	Abnormality of the cardiovascular system	79639	TMEM53	OMIM:619727
HP:0001626	Abnormality of the cardiovascular system	7021	TFAP2B	ORPHA:46627
HP:0001626	Abnormality of the cardiovascular system	815	CAMK2A	OMIM:617798
HP:0001626	Abnormality of the cardiovascular system	3476	IGBP1	ORPHA:52055
HP:0001626	Abnormality of the cardiovascular system	3476	IGBP1	OMIM:300472
HP:0001626	Abnormality of the cardiovascular system	8493	PPM1D	OMIM:617450
HP:0001626	Abnormality of the cardiovascular system	56006	SMG9	OMIM:619995
HP:0001626	Abnormality of the cardiovascular system	56006	SMG9	OMIM:616920
HP:0001626	Abnormality of the cardiovascular system	150468	CKAP2L	OMIM:272440
HP:0001626	Abnormality of the cardiovascular system	150468	CKAP2L	ORPHA:3255
HP:0001626	Abnormality of the cardiovascular system	57466	SCAF4	OMIM:620511
HP:0001626	Abnormality of the cardiovascular system	23499	MACF1	OMIM:618325
HP:0001626	Abnormality of the cardiovascular system	8295	TRRAP	OMIM:618454
HP:0001626	Abnormality of the cardiovascular system	55770	EXOC2	OMIM:619306
HP:0001626	Abnormality of the cardiovascular system	27145	FILIP1	OMIM:620775
HP:0001626	Abnormality of the cardiovascular system	6792	CDKL5	ORPHA:1934
HP:0001626	Abnormality of the cardiovascular system	3736	KCNA1	ORPHA:1934
HP:0001626	Abnormality of the cardiovascular system	9091	PIGQ	ORPHA:1934
HP:0001626	Abnormality of the cardiovascular system	140679	SLC32A1	ORPHA:1934
HP:0001626	Abnormality of the cardiovascular system	2775	GNAO1	ORPHA:1934
HP:0001626	Abnormality of the cardiovascular system	81603	TRIM8	ORPHA:1934
HP:0001626	Abnormality of the cardiovascular system	79751	SLC25A22	ORPHA:1934
HP:0001626	Abnormality of the cardiovascular system	150094	SIK1	ORPHA:1934
HP:0001626	Abnormality of the cardiovascular system	23312	DMXL2	ORPHA:1934
HP:0001626	Abnormality of the cardiovascular system	2917	GRM7	ORPHA:1934
HP:0001626	Abnormality of the cardiovascular system	6326	SCN2A	ORPHA:1934
HP:0001626	Abnormality of the cardiovascular system	51227	PIGP	ORPHA:1934
HP:0001626	Abnormality of the cardiovascular system	4761	NEUROD2	ORPHA:1934
HP:0001626	Abnormality of the cardiovascular system	23314	SATB2	ORPHA:251028
HP:0001626	Abnormality of the cardiovascular system	372	ARCN1	OMIM:617164
HP:0001626	Abnormality of the cardiovascular system	6304	SATB1	OMIM:619229
HP:0001626	Abnormality of the cardiovascular system	4990	SIX6	OMIM:206900
HP:0001626	Abnormality of the cardiovascular system	64864	RFX7	OMIM:620330
HP:0001626	Abnormality of the cardiovascular system	407975	MIR17HG	ORPHA:391646
HP:0001626	Abnormality of the cardiovascular system	83700	JAM3	OMIM:613730
HP:0001626	Abnormality of the cardiovascular system	10992	SF3B2	OMIM:164210
HP:0001626	Abnormality of the cardiovascular system	80232	WDR26	ORPHA:513456
HP:0001626	Abnormality of the cardiovascular system	80232	WDR26	OMIM:617616
HP:0001626	Abnormality of the cardiovascular system	7175	TPR	OMIM:620393
HP:0001626	Abnormality of the cardiovascular system	5119	CHMP1A	OMIM:614961
HP:0001626	Abnormality of the cardiovascular system	63894	VIPAS39	OMIM:613404
HP:0001626	Abnormality of the cardiovascular system	4036	LRP2	ORPHA:2143
HP:0001626	Abnormality of the cardiovascular system	4036	LRP2	OMIM:222448
HP:0001626	Abnormality of the cardiovascular system	26227	PHGDH	OMIM:256520
HP:0001626	Abnormality of the cardiovascular system	6558	SLC12A2	OMIM:619083
HP:0001626	Abnormality of the cardiovascular system	10236	HNRNPR	OMIM:620073
HP:0001626	Abnormality of the cardiovascular system	51244	CCDC174	OMIM:616816
HP:0001626	Abnormality of the cardiovascular system	85358	SHANK3	OMIM:606232
HP:0001626	Abnormality of the cardiovascular system	83479	DDX59	OMIM:174300
HP:0001626	Abnormality of the cardiovascular system	5160	PDHA1	ORPHA:79243
HP:0001626	Abnormality of the cardiovascular system	3209	HOXA13	ORPHA:2438
HP:0001626	Abnormality of the cardiovascular system	7074	TIAM1	OMIM:619908
HP:0001626	Abnormality of the cardiovascular system	59336	PRDM13	OMIM:619909
HP:0001626	Abnormality of the cardiovascular system	157680	VPS13B	ORPHA:193
HP:0001626	Abnormality of the cardiovascular system	51780	KDM3B	OMIM:618846
HP:0001626	Abnormality of the cardiovascular system	124583	CANT1	ORPHA:1425
HP:0001626	Abnormality of the cardiovascular system	10617	STAMBP	OMIM:614261
HP:0001626	Abnormality of the cardiovascular system	9231	DLG5	OMIM:620703
HP:0001626	Abnormality of the cardiovascular system	81857	MED25	OMIM:616449
HP:0001626	Abnormality of the cardiovascular system	81857	MED25	ORPHA:464738
HP:0001626	Abnormality of the cardiovascular system	5927	KDM5A	OMIM:620820
HP:0001626	Abnormality of the cardiovascular system	1131	CHRM3	ORPHA:2970
HP:0001626	Abnormality of the cardiovascular system	55790	CSGALNACT1	OMIM:618870
HP:0001626	Abnormality of the cardiovascular system	10084	PQBP1	ORPHA:93946
HP:0001626	Abnormality of the cardiovascular system	10084	PQBP1	ORPHA:93947
HP:0001626	Abnormality of the cardiovascular system	10084	PQBP1	OMIM:309500
HP:0001626	Abnormality of the cardiovascular system	28960	DCPS	OMIM:616459
HP:0001626	Abnormality of the cardiovascular system	57231	SNX14	ORPHA:397709
HP:0001626	Abnormality of the cardiovascular system	8550	MAPKAPK5	OMIM:619869
HP:0001626	Abnormality of the cardiovascular system	8241	RBM10	OMIM:311900
HP:0001626	Abnormality of the cardiovascular system	8241	RBM10	ORPHA:2886
HP:0001626	Abnormality of the cardiovascular system	8558	CDK10	OMIM:617694
HP:0001626	Abnormality of the cardiovascular system	51633	OTUD6B	OMIM:617452
HP:0001626	Abnormality of the cardiovascular system	51633	OTUD6B	ORPHA:505237
HP:0001626	Abnormality of the cardiovascular system	286	ANK1	ORPHA:251066
HP:0001626	Abnormality of the cardiovascular system	415	ARSL	ORPHA:79345
HP:0001626	Abnormality of the cardiovascular system	93986	FOXP2	ORPHA:251061
HP:0001626	Abnormality of the cardiovascular system	7385	UQCRC2	OMIM:615160
HP:0001626	Abnormality of the cardiovascular system	7750	ZMYM2	OMIM:619522
HP:0001626	Abnormality of the cardiovascular system	10991	SLC38A3	OMIM:619881
HP:0001626	Abnormality of the cardiovascular system	9772	TMEM94	OMIM:618316
HP:0001626	Abnormality of the cardiovascular system	51341	ZBTB7A	OMIM:619769
HP:0001626	Abnormality of the cardiovascular system	8621	CDK13	OMIM:617360
HP:0001626	Abnormality of the cardiovascular system	1523	CUX1	OMIM:618330
HP:0001626	Abnormality of the cardiovascular system	4212	MEIS2	ORPHA:261190
HP:0001626	Abnormality of the cardiovascular system	4212	MEIS2	OMIM:600987
HP:0001626	Abnormality of the cardiovascular system	10765	KDM5B	OMIM:618109
HP:0001626	Abnormality of the cardiovascular system	253738	EBF3	ORPHA:96148
HP:0001626	Abnormality of the cardiovascular system	90459	ERI1	OMIM:620663
HP:0001626	Abnormality of the cardiovascular system	90459	ERI1	OMIM:620662
HP:0001626	Abnormality of the cardiovascular system	5515	PPP2CA	OMIM:618354
HP:0001626	Abnormality of the cardiovascular system	5649	RELN	ORPHA:89844
HP:0001626	Abnormality of the cardiovascular system	10300	KATNB1	ORPHA:89844
HP:0001626	Abnormality of the cardiovascular system	1363	CPE	OMIM:619326
HP:0001626	Abnormality of the cardiovascular system	8312	AXIN1	OMIM:620558
HP:0001626	Abnormality of the cardiovascular system	51114	ZDHHC9	ORPHA:776
HP:0001626	Abnormality of the cardiovascular system	65109	UPF3B	ORPHA:776
HP:0001626	Abnormality of the cardiovascular system	2530	FUT8	OMIM:618005
HP:0001626	Abnormality of the cardiovascular system	166378	AFG2A	ORPHA:457351
HP:0001626	Abnormality of the cardiovascular system	1108	CHD4	OMIM:617159
HP:0001626	Abnormality of the cardiovascular system	54551	MAGEL2	ORPHA:398069
HP:0001626	Abnormality of the cardiovascular system	400569	MED11	OMIM:620327
HP:0001626	Abnormality of the cardiovascular system	26276	VPS33B	OMIM:208085
HP:0001626	Abnormality of the cardiovascular system	3188	HNRNPH2	OMIM:300986
HP:0001626	Abnormality of the cardiovascular system	9343	EFTUD2	OMIM:610536
HP:0001626	Abnormality of the cardiovascular system	9343	EFTUD2	ORPHA:79113
HP:0001626	Abnormality of the cardiovascular system	55186	SLC25A36	OMIM:620211
HP:0001626	Abnormality of the cardiovascular system	5281	PIGF	OMIM:619356
HP:0001626	Abnormality of the cardiovascular system	7204	TRIO	OMIM:617061
HP:0001626	Abnormality of the cardiovascular system	285590	SH3PXD2B	OMIM:249420
HP:0001626	Abnormality of the cardiovascular system	129285	PPP1R21	OMIM:619383
HP:0001626	Abnormality of the cardiovascular system	55181	SMG8	OMIM:619268
HP:0001626	Abnormality of the cardiovascular system	3480	IGF1R	OMIM:270450
HP:0001626	Abnormality of the cardiovascular system	8496	PPFIBP1	OMIM:620024
HP:0001626	Abnormality of the cardiovascular system	89910	UBE3B	OMIM:244450
HP:0001626	Abnormality of the cardiovascular system	56992	KIF15	ORPHA:261323
HP:0001626	Abnormality of the cardiovascular system	80204	FBXO11	OMIM:618089
HP:0001626	Abnormality of the cardiovascular system	55148	UBR7	OMIM:619189
HP:0001626	Abnormality of the cardiovascular system	26005	C2CD3	OMIM:615948
HP:0001626	Abnormality of the cardiovascular system	5826	ABCD4	OMIM:614857
HP:0001626	Abnormality of the cardiovascular system	10841	FTCD	ORPHA:51208
HP:0001626	Abnormality of the cardiovascular system	54499	TMCO1	OMIM:213980
HP:0001626	Abnormality of the cardiovascular system	55719	SLF2	OMIM:620184
HP:0001626	Abnormality of the cardiovascular system	3911	LAMA5	OMIM:620076
HP:0001626	Abnormality of the cardiovascular system	10430	TMEM147	OMIM:620075
HP:0001626	Abnormality of the cardiovascular system	50945	TBX22	ORPHA:921
HP:0001626	Abnormality of the cardiovascular system	84978	FRMD5	OMIM:620094
HP:0001626	Abnormality of the cardiovascular system	2258	FGF13	OMIM:301058
HP:0001626	Abnormality of the cardiovascular system	113179	ADAT3	ORPHA:363528
HP:0001626	Abnormality of the cardiovascular system	3313	HSPA9	OMIM:616854
HP:0001626	Abnormality of the cardiovascular system	4297	KMT2A	OMIM:605130
HP:0001626	Abnormality of the cardiovascular system	10265	IRX5	OMIM:611174
HP:0001626	Abnormality of the cardiovascular system	6606	SMN1	OMIM:253300
HP:0001626	Abnormality of the cardiovascular system	79576	NKAP	OMIM:301039
HP:0001626	Abnormality of the cardiovascular system	57511	COG6	OMIM:614576
HP:0001626	Abnormality of the cardiovascular system	6628	SNRPB	OMIM:117650
HP:0001626	Abnormality of the cardiovascular system	55617	TASP1	OMIM:618950
HP:0001626	Abnormality of the cardiovascular system	6857	SYT1	ORPHA:522077
HP:0001626	Abnormality of the cardiovascular system	10293	TRAIP	OMIM:616777
HP:0001626	Abnormality of the cardiovascular system	4780	NFE2L2	OMIM:617744
HP:0001626	Abnormality of the cardiovascular system	3832	KIF11	ORPHA:2526
HP:0001626	Abnormality of the cardiovascular system	93649	MYOCD	OMIM:618719
HP:0001626	Abnormality of the cardiovascular system	8777	MPDZ	OMIM:615219
HP:0001626	Abnormality of the cardiovascular system	9439	MED23	OMIM:614249
HP:0001626	Abnormality of the cardiovascular system	9451	EIF2AK3	ORPHA:1667
HP:0001626	Abnormality of the cardiovascular system	7372	UMPS	OMIM:258900
HP:0001626	Abnormality of the cardiovascular system	84148	KAT8	OMIM:618974
HP:0001626	Abnormality of the cardiovascular system	170689	ADAMTS15	OMIM:620545
HP:0001626	Abnormality of the cardiovascular system	56776	FMN2	OMIM:616193
HP:0001626	Abnormality of the cardiovascular system	26278	SACS	ORPHA:98
HP:0001626	Abnormality of the cardiovascular system	1280	COL2A1	ORPHA:90653
HP:0001626	Abnormality of the cardiovascular system	1280	COL2A1	OMIM:108300
HP:0001626	Abnormality of the cardiovascular system	4883	NPR3	OMIM:619543
HP:0001626	Abnormality of the cardiovascular system	10486	CAP2	ORPHA:154
HP:0001626	Abnormality of the cardiovascular system	7716	VEZF1	ORPHA:154
HP:0001626	Abnormality of the cardiovascular system	7716	VEZF1	OMIM:620247
HP:0001626	Abnormality of the cardiovascular system	7168	TPM1	ORPHA:154
HP:0001626	Abnormality of the cardiovascular system	7168	TPM1	OMIM:611878
HP:0001626	Abnormality of the cardiovascular system	27063	ANKRD1	ORPHA:154
HP:0001626	Abnormality of the cardiovascular system	1410	CRYAB	ORPHA:154
HP:0001626	Abnormality of the cardiovascular system	439	GET3	ORPHA:154
HP:0001626	Abnormality of the cardiovascular system	5350	PLN	ORPHA:154
HP:0001626	Abnormality of the cardiovascular system	5350	PLN	OMIM:609909
HP:0001626	Abnormality of the cardiovascular system	9529	BAG5	ORPHA:154
HP:0001626	Abnormality of the cardiovascular system	9529	BAG5	OMIM:619747
HP:0001626	Abnormality of the cardiovascular system	2274	FHL2	ORPHA:154
HP:0001626	Abnormality of the cardiovascular system	1756	DMD	ORPHA:154
HP:0001626	Abnormality of the cardiovascular system	1756	DMD	OMIM:310200
HP:0001626	Abnormality of the cardiovascular system	1756	DMD	ORPHA:206546
HP:0001626	Abnormality of the cardiovascular system	1674	DES	ORPHA:154
HP:0001626	Abnormality of the cardiovascular system	1674	DES	OMIM:604765
HP:0001626	Abnormality of the cardiovascular system	1674	DES	ORPHA:98909
HP:0001626	Abnormality of the cardiovascular system	442721	LMOD2	ORPHA:154
HP:0001626	Abnormality of the cardiovascular system	8557	TCAP	ORPHA:154
HP:0001626	Abnormality of the cardiovascular system	57158	JPH2	ORPHA:154
HP:0001626	Abnormality of the cardiovascular system	9015	TAF1A	ORPHA:154
HP:0001626	Abnormality of the cardiovascular system	7112	TMPO	ORPHA:154
HP:0001626	Abnormality of the cardiovascular system	9464	HAND2	ORPHA:154
HP:0001626	Abnormality of the cardiovascular system	88	ACTN2	ORPHA:154
HP:0001626	Abnormality of the cardiovascular system	88	ACTN2	OMIM:618654
HP:0001626	Abnormality of the cardiovascular system	7414	VCL	ORPHA:154
HP:0001626	Abnormality of the cardiovascular system	7414	VCL	OMIM:613255
HP:0001626	Abnormality of the cardiovascular system	6123	RPL3L	ORPHA:154
HP:0001626	Abnormality of the cardiovascular system	8048	CSRP3	ORPHA:154
HP:0001626	Abnormality of the cardiovascular system	8048	CSRP3	OMIM:607482
HP:0001626	Abnormality of the cardiovascular system	1829	DSG2	ORPHA:154
HP:0001626	Abnormality of the cardiovascular system	1829	DSG2	OMIM:612877
HP:0001626	Abnormality of the cardiovascular system	3910	LAMA4	ORPHA:154
HP:0001626	Abnormality of the cardiovascular system	10587	TXNRD2	ORPHA:154
HP:0001626	Abnormality of the cardiovascular system	9531	BAG3	ORPHA:154
HP:0001626	Abnormality of the cardiovascular system	9531	BAG3	OMIM:613881
HP:0001626	Abnormality of the cardiovascular system	91624	NEXN	ORPHA:154
HP:0001626	Abnormality of the cardiovascular system	79717	PPCS	ORPHA:154
HP:0001626	Abnormality of the cardiovascular system	282996	RBM20	ORPHA:154
HP:0001626	Abnormality of the cardiovascular system	282996	RBM20	OMIM:613172
HP:0001626	Abnormality of the cardiovascular system	6901	TAFAZZIN	ORPHA:154
HP:0001626	Abnormality of the cardiovascular system	6901	TAFAZZIN	OMIM:302060
HP:0001626	Abnormality of the cardiovascular system	22845	DOLK	ORPHA:154
HP:0001626	Abnormality of the cardiovascular system	22845	DOLK	ORPHA:91131
HP:0001626	Abnormality of the cardiovascular system	57798	GATAD1	ORPHA:154
HP:0001626	Abnormality of the cardiovascular system	57798	GATAD1	OMIM:614672
HP:0001626	Abnormality of the cardiovascular system	6444	SGCD	ORPHA:154
HP:0001626	Abnormality of the cardiovascular system	6444	SGCD	OMIM:606685
HP:0001626	Abnormality of the cardiovascular system	2218	FKTN	ORPHA:154
HP:0001626	Abnormality of the cardiovascular system	2070	EYA4	ORPHA:217622
HP:0001626	Abnormality of the cardiovascular system	2070	EYA4	OMIM:605362
HP:0001626	Abnormality of the cardiovascular system	55654	TMEM127	OMIM:171300
HP:0001626	Abnormality of the cardiovascular system	55654	TMEM127	ORPHA:29072
HP:0001626	Abnormality of the cardiovascular system	4149	MAX	OMIM:171300
HP:0001626	Abnormality of the cardiovascular system	4149	MAX	ORPHA:29072
HP:0001626	Abnormality of the cardiovascular system	7428	VHL	OMIM:171300
HP:0001626	Abnormality of the cardiovascular system	7428	VHL	ORPHA:276621
HP:0001626	Abnormality of the cardiovascular system	7428	VHL	ORPHA:29072
HP:0001626	Abnormality of the cardiovascular system	148738	HJV	OMIM:602390
HP:0001626	Abnormality of the cardiovascular system	114803	MYSM1	ORPHA:508542
HP:0001626	Abnormality of the cardiovascular system	54968	TMEM70	ORPHA:1194
HP:0001626	Abnormality of the cardiovascular system	6341	SCO1	OMIM:619048
HP:0001626	Abnormality of the cardiovascular system	65082	VPS33A	OMIM:617303
HP:0001626	Abnormality of the cardiovascular system	65082	VPS33A	ORPHA:505248
HP:0001626	Abnormality of the cardiovascular system	25782	RAB3GAP2	OMIM:212720
HP:0001626	Abnormality of the cardiovascular system	4574	MT-TS1	OMIM:540000
HP:0001626	Abnormality of the cardiovascular system	4575	MT-TS2	OMIM:540000
HP:0001626	Abnormality of the cardiovascular system	4535	MT-ND1	OMIM:540000
HP:0001626	Abnormality of the cardiovascular system	4567	MT-TL1	OMIM:540000
HP:0001626	Abnormality of the cardiovascular system	4512	MT-CO1	OMIM:540000
HP:0001626	Abnormality of the cardiovascular system	4513	MT-CO2	OMIM:540000
HP:0001626	Abnormality of the cardiovascular system	4514	MT-CO3	OMIM:540000
HP:0001626	Abnormality of the cardiovascular system	4519	MT-CYB	OMIM:540000
HP:0001626	Abnormality of the cardiovascular system	4519	MT-CYB	ORPHA:137675
HP:0001626	Abnormality of the cardiovascular system	4511	MT-TC	OMIM:540000
HP:0001626	Abnormality of the cardiovascular system	4572	MT-TQ	OMIM:540000
HP:0001626	Abnormality of the cardiovascular system	4577	MT-TV	OMIM:540000
HP:0001626	Abnormality of the cardiovascular system	4578	MT-TW	OMIM:540000
HP:0001626	Abnormality of the cardiovascular system	4558	MT-TF	OMIM:540000
HP:0001626	Abnormality of the cardiovascular system	4540	MT-ND5	OMIM:540000
HP:0001626	Abnormality of the cardiovascular system	4541	MT-ND6	OMIM:540000
HP:0001626	Abnormality of the cardiovascular system	2859	GPR35	ORPHA:171
HP:0001626	Abnormality of the cardiovascular system	10507	SEMA4D	ORPHA:171
HP:0001626	Abnormality of the cardiovascular system	4485	MST1	ORPHA:171
HP:0001626	Abnormality of the cardiovascular system	6925	TCF4	ORPHA:171
HP:0001626	Abnormality of the cardiovascular system	5468	PPARG	ORPHA:79083
HP:0001626	Abnormality of the cardiovascular system	5468	PPARG	ORPHA:528
HP:0001626	Abnormality of the cardiovascular system	55109	AGGF1	ORPHA:90308
HP:0001626	Abnormality of the cardiovascular system	1788	DNMT3A	ORPHA:276621
HP:0001626	Abnormality of the cardiovascular system	2034	EPAS1	ORPHA:276621
HP:0001626	Abnormality of the cardiovascular system	7840	ALMS1	OMIM:203800
HP:0001626	Abnormality of the cardiovascular system	7840	ALMS1	ORPHA:64
HP:0001626	Abnormality of the cardiovascular system	1193	CLIC2	ORPHA:324410
HP:0001626	Abnormality of the cardiovascular system	64121	RRAGC	OMIM:620609
HP:0001626	Abnormality of the cardiovascular system	9997	SCO2	OMIM:608908
HP:0001626	Abnormality of the cardiovascular system	9997	SCO2	OMIM:604377
HP:0001626	Abnormality of the cardiovascular system	51086	TNNI3K	OMIM:616117
HP:0001626	Abnormality of the cardiovascular system	4591	TRIM37	OMIM:253250
HP:0001626	Abnormality of the cardiovascular system	84984	CEP19	OMIM:615703
HP:0001626	Abnormality of the cardiovascular system	28976	ACAD9	ORPHA:99901
HP:0001626	Abnormality of the cardiovascular system	28976	ACAD9	OMIM:611126
HP:0001626	Abnormality of the cardiovascular system	3039	HBA1	ORPHA:163596
HP:0001626	Abnormality of the cardiovascular system	3040	HBA2	ORPHA:163596
HP:0001626	Abnormality of the cardiovascular system	6772	STAT1	ORPHA:391487
HP:0001626	Abnormality of the cardiovascular system	3572	IL6ST	OMIM:619751
HP:0001626	Abnormality of the cardiovascular system	23118	TAB2	OMIM:614980
HP:0001626	Abnormality of the cardiovascular system	1743	DLST	ORPHA:29072
HP:0001626	Abnormality of the cardiovascular system	4191	MDH2	ORPHA:29072
HP:0001626	Abnormality of the cardiovascular system	23095	KIF1B	ORPHA:29072
HP:0001626	Abnormality of the cardiovascular system	2271	FH	ORPHA:29072
HP:0001626	Abnormality of the cardiovascular system	8402	SLC25A11	ORPHA:29072
HP:0001626	Abnormality of the cardiovascular system	54949	SDHAF2	ORPHA:29072
HP:0001626	Abnormality of the cardiovascular system	6391	SDHC	ORPHA:29072
HP:0001626	Abnormality of the cardiovascular system	81031	SLC2A10	ORPHA:3342
HP:0001626	Abnormality of the cardiovascular system	9719	ADAMTSL2	OMIM:231050
HP:0001626	Abnormality of the cardiovascular system	7486	WRN	ORPHA:902
HP:0001626	Abnormality of the cardiovascular system	83475	DOHH	OMIM:620066
HP:0001626	Abnormality of the cardiovascular system	8517	IKBKG	ORPHA:464
HP:0001626	Abnormality of the cardiovascular system	111	ADCY5	OMIM:606703
HP:0001626	Abnormality of the cardiovascular system	111	ADCY5	ORPHA:324588
HP:0001626	Abnormality of the cardiovascular system	79188	TMEM43	OMIM:604400
HP:0001626	Abnormality of the cardiovascular system	130340	AP1S3	ORPHA:247353
HP:0001626	Abnormality of the cardiovascular system	26525	IL36RN	ORPHA:247353
HP:0001626	Abnormality of the cardiovascular system	27068	PPA2	OMIM:617222
HP:0001626	Abnormality of the cardiovascular system	50485	SMARCAL1	ORPHA:1830
HP:0001626	Abnormality of the cardiovascular system	7276	TTR	ORPHA:85451
HP:0001626	Abnormality of the cardiovascular system	1356	CP	ORPHA:48818
HP:0001626	Abnormality of the cardiovascular system	3178	HNRNPA1	ORPHA:52430
HP:0001626	Abnormality of the cardiovascular system	7415	VCP	ORPHA:52430
HP:0001626	Abnormality of the cardiovascular system	3181	HNRNPA2B1	ORPHA:52430
HP:0001626	Abnormality of the cardiovascular system	5573	PRKAR1A	OMIM:160980
HP:0001626	Abnormality of the cardiovascular system	5573	PRKAR1A	ORPHA:1359
HP:0001626	Abnormality of the cardiovascular system	5573	PRKAR1A	ORPHA:615
HP:0001626	Abnormality of the cardiovascular system	57724	EPG5	OMIM:242840
HP:0001626	Abnormality of the cardiovascular system	590	BCHE	ORPHA:132
HP:0001626	Abnormality of the cardiovascular system	2717	GLA	OMIM:301500
HP:0001626	Abnormality of the cardiovascular system	2717	GLA	ORPHA:324
HP:0001626	Abnormality of the cardiovascular system	5832	ALDH18A1	ORPHA:90348
HP:0001626	Abnormality of the cardiovascular system	2720	GLB1	OMIM:230500
HP:0001626	Abnormality of the cardiovascular system	654	BMP6	ORPHA:465508
HP:0001626	Abnormality of the cardiovascular system	3077	HFE	ORPHA:465508
HP:0001626	Abnormality of the cardiovascular system	3077	HFE	OMIM:235200
HP:0001626	Abnormality of the cardiovascular system	57817	HAMP	OMIM:613313
HP:0001626	Abnormality of the cardiovascular system	54148	MRPL39	OMIM:620646
HP:0001626	Abnormality of the cardiovascular system	6314	ATXN7	ORPHA:94147
HP:0001626	Abnormality of the cardiovascular system	4615	MYD88	ORPHA:33226
HP:0001626	Abnormality of the cardiovascular system	57505	AARS2	OMIM:614096
HP:0001626	Abnormality of the cardiovascular system	81570	CLPB	OMIM:616271
HP:0001626	Abnormality of the cardiovascular system	4069	LYZ	OMIM:620658
HP:0001626	Abnormality of the cardiovascular system	335	APOA1	OMIM:620657
HP:0001626	Abnormality of the cardiovascular system	84705	GTPBP3	ORPHA:444013
HP:0001626	Abnormality of the cardiovascular system	84705	GTPBP3	OMIM:616198
HP:0001626	Abnormality of the cardiovascular system	57190	SELENON	ORPHA:324604
HP:0001626	Abnormality of the cardiovascular system	91949	COG7	OMIM:608779
HP:0001626	Abnormality of the cardiovascular system	286053	NSMCE2	OMIM:617253
HP:0001626	Abnormality of the cardiovascular system	5351	PLOD1	OMIM:225400
HP:0001626	Abnormality of the cardiovascular system	5351	PLOD1	ORPHA:1900
HP:0001626	Abnormality of the cardiovascular system	498	ATP5F1A	OMIM:616045
HP:0001626	Abnormality of the cardiovascular system	7167	TPI1	OMIM:615512
HP:0001626	Abnormality of the cardiovascular system	2767	GNA11	ORPHA:428
HP:0001626	Abnormality of the cardiovascular system	846	CASR	ORPHA:428
HP:0001626	Abnormality of the cardiovascular system	23451	SF3B1	ORPHA:75564
HP:0001626	Abnormality of the cardiovascular system	6442	SGCA	OMIM:608099
HP:0001626	Abnormality of the cardiovascular system	27125	AFF4	ORPHA:444077
HP:0001626	Abnormality of the cardiovascular system	1837	DTNA	OMIM:604169
HP:0001626	Abnormality of the cardiovascular system	51103	NDUFAF1	OMIM:618234
HP:0001626	Abnormality of the cardiovascular system	5191	PEX7	OMIM:266500
HP:0001626	Abnormality of the cardiovascular system	5264	PHYH	OMIM:266500
HP:0001626	Abnormality of the cardiovascular system	9342	SNAP29	ORPHA:66631
HP:0001626	Abnormality of the cardiovascular system	131118	DNAJC19	OMIM:610198
HP:0001626	Abnormality of the cardiovascular system	10560	SLC19A2	ORPHA:49827
HP:0001626	Abnormality of the cardiovascular system	50940	PDE11A	ORPHA:1359
HP:0001626	Abnormality of the cardiovascular system	64135	IFIH1	OMIM:182250
HP:0001626	Abnormality of the cardiovascular system	54539	NDUFB11	OMIM:301021
HP:0001626	Abnormality of the cardiovascular system	7019	TFAM	OMIM:617156
HP:0001626	Abnormality of the cardiovascular system	10616	RBCK1	OMIM:615895
HP:0001626	Abnormality of the cardiovascular system	1277	COL1A1	OMIM:166210
HP:0001626	Abnormality of the cardiovascular system	1278	COL1A2	OMIM:166210
HP:0001626	Abnormality of the cardiovascular system	9325	TRIP4	OMIM:616866
HP:0001626	Abnormality of the cardiovascular system	4634	MYL3	OMIM:608751
HP:0001626	Abnormality of the cardiovascular system	4547	MTTP	ORPHA:14
HP:0001626	Abnormality of the cardiovascular system	6329	SCN4A	ORPHA:682
HP:0001626	Abnormality of the cardiovascular system	85366	MYLK2	OMIM:192600
HP:0001626	Abnormality of the cardiovascular system	4204	MECP2	ORPHA:3077
HP:0001626	Abnormality of the cardiovascular system	650	BMP2	OMIM:235200
HP:0001626	Abnormality of the cardiovascular system	51241	COX16	OMIM:619355
HP:0001626	Abnormality of the cardiovascular system	3032	HADHB	ORPHA:746
HP:0001626	Abnormality of the cardiovascular system	3030	HADHA	ORPHA:746
HP:0001626	Abnormality of the cardiovascular system	3030	HADHA	OMIM:609015
HP:0001626	Abnormality of the cardiovascular system	10128	LRPPRC	ORPHA:70472
HP:0001626	Abnormality of the cardiovascular system	284252	KCTD1	OMIM:181270
HP:0001626	Abnormality of the cardiovascular system	64131	XYLT1	OMIM:264800
HP:0001626	Abnormality of the cardiovascular system	64132	XYLT2	OMIM:264800
HP:0001626	Abnormality of the cardiovascular system	60528	ELAC2	OMIM:615440
HP:0001626	Abnormality of the cardiovascular system	26503	SLC17A5	OMIM:269920
HP:0001626	Abnormality of the cardiovascular system	57104	PNPLA2	ORPHA:98908
HP:0001626	Abnormality of the cardiovascular system	3593	IL12B	ORPHA:3287
HP:0001626	Abnormality of the cardiovascular system	3106	HLA-B	ORPHA:3287
HP:0001626	Abnormality of the cardiovascular system	6945	MLX	ORPHA:3287
HP:0001626	Abnormality of the cardiovascular system	10555	AGPAT2	ORPHA:528
HP:0001626	Abnormality of the cardiovascular system	284119	CAVIN1	ORPHA:528
HP:0001626	Abnormality of the cardiovascular system	26580	BSCL2	ORPHA:528
HP:0001626	Abnormality of the cardiovascular system	2353	FOS	ORPHA:528
HP:0001626	Abnormality of the cardiovascular system	857	CAV1	ORPHA:528
HP:0001626	Abnormality of the cardiovascular system	857	CAV1	ORPHA:220393
HP:0001626	Abnormality of the cardiovascular system	6223	RPS19	OMIM:105650
HP:0001626	Abnormality of the cardiovascular system	57538	ALPK3	OMIM:618052
HP:0001626	Abnormality of the cardiovascular system	115286	SLC25A26	OMIM:616794
HP:0001626	Abnormality of the cardiovascular system	523	ATP6V1A	OMIM:617403
HP:0001626	Abnormality of the cardiovascular system	203068	TUBB	ORPHA:2505
HP:0001626	Abnormality of the cardiovascular system	10982	MAPRE2	ORPHA:2505
HP:0001626	Abnormality of the cardiovascular system	1235	CCR6	ORPHA:220393
HP:0001626	Abnormality of the cardiovascular system	1490	CCN2	ORPHA:220393
HP:0001626	Abnormality of the cardiovascular system	3663	IRF5	ORPHA:220393
HP:0001626	Abnormality of the cardiovascular system	5696	PSMB8	OMIM:256040
HP:0001626	Abnormality of the cardiovascular system	6584	SLC22A5	OMIM:212140
HP:0001626	Abnormality of the cardiovascular system	8443	GNPAT	OMIM:222765
HP:0001626	Abnormality of the cardiovascular system	26275	HIBCH	ORPHA:88639
HP:0001626	Abnormality of the cardiovascular system	26275	HIBCH	OMIM:250620
HP:0001626	Abnormality of the cardiovascular system	1147	CHUK	OMIM:613630
HP:0001626	Abnormality of the cardiovascular system	8092	ALX1	ORPHA:306542
HP:0001626	Abnormality of the cardiovascular system	3579	CXCR2	OMIM:619407
HP:0001626	Abnormality of the cardiovascular system	257	ALX3	OMIM:136760
HP:0001626	Abnormality of the cardiovascular system	29925	GMPPB	OMIM:615352
HP:0001626	Abnormality of the cardiovascular system	29925	GMPPB	ORPHA:370959
HP:0001626	Abnormality of the cardiovascular system	29925	GMPPB	ORPHA:363623
HP:0001626	Abnormality of the cardiovascular system	80308	FLAD1	OMIM:255100
HP:0001626	Abnormality of the cardiovascular system	50717	DCAF8	OMIM:610100
HP:0001626	Abnormality of the cardiovascular system	1355	COX15	OMIM:615119
HP:0001626	Abnormality of the cardiovascular system	4703	NEB	ORPHA:171433
HP:0001626	Abnormality of the cardiovascular system	4703	NEB	ORPHA:171439
HP:0001626	Abnormality of the cardiovascular system	4703	NEB	ORPHA:399103
HP:0001626	Abnormality of the cardiovascular system	10324	KLHL41	ORPHA:171433
HP:0001626	Abnormality of the cardiovascular system	10324	KLHL41	ORPHA:171439
HP:0001626	Abnormality of the cardiovascular system	1352	COX10	OMIM:619046
HP:0001626	Abnormality of the cardiovascular system	191	AHCY	OMIM:613752
HP:0001626	Abnormality of the cardiovascular system	191	AHCY	ORPHA:88618
HP:0001626	Abnormality of the cardiovascular system	8878	SQSTM1	ORPHA:603
HP:0001626	Abnormality of the cardiovascular system	7072	TIA1	ORPHA:603
HP:0001626	Abnormality of the cardiovascular system	9499	MYOT	OMIM:609200
HP:0001626	Abnormality of the cardiovascular system	9499	MYOT	ORPHA:98911
HP:0001626	Abnormality of the cardiovascular system	10367	MICU1	ORPHA:401768
HP:0001626	Abnormality of the cardiovascular system	10352	WARS2	ORPHA:572798
HP:0001626	Abnormality of the cardiovascular system	10352	WARS2	OMIM:617710
HP:0001626	Abnormality of the cardiovascular system	51594	NBAS	OMIM:616483
HP:0001626	Abnormality of the cardiovascular system	1594	CYP27B1	ORPHA:289157
HP:0001626	Abnormality of the cardiovascular system	120227	CYP2R1	ORPHA:289157
HP:0001626	Abnormality of the cardiovascular system	8239	USP9X	ORPHA:480880
HP:0001626	Abnormality of the cardiovascular system	25973	PARS2	OMIM:618437
HP:0001626	Abnormality of the cardiovascular system	390594	KBTBD13	ORPHA:171439
HP:0001626	Abnormality of the cardiovascular system	23676	SMPX	OMIM:301075
HP:0001626	Abnormality of the cardiovascular system	5256	PHKA2	ORPHA:264580
HP:0001626	Abnormality of the cardiovascular system	5261	PHKG2	ORPHA:264580
HP:0001626	Abnormality of the cardiovascular system	6443	SGCB	ORPHA:119
HP:0001626	Abnormality of the cardiovascular system	7084	TK2	ORPHA:254886
HP:0001626	Abnormality of the cardiovascular system	3714	JAG2	OMIM:619566
HP:0001626	Abnormality of the cardiovascular system	10073	SNUPN	OMIM:620793
HP:0001626	Abnormality of the cardiovascular system	2771	GNAI2	OMIM:192605
HP:0001626	Abnormality of the cardiovascular system	4976	OPA1	ORPHA:1215
HP:0001626	Abnormality of the cardiovascular system	4576	MT-TT	ORPHA:254857
HP:0001626	Abnormality of the cardiovascular system	35	ACADS	OMIM:201470
HP:0001626	Abnormality of the cardiovascular system	35	ACADS	ORPHA:26792
HP:0001626	Abnormality of the cardiovascular system	3704	ITPA	OMIM:616647
HP:0001626	Abnormality of the cardiovascular system	84197	POMK	ORPHA:370959
HP:0001626	Abnormality of the cardiovascular system	4716	NDUFB10	OMIM:619003
HP:0001626	Abnormality of the cardiovascular system	7504	XK	OMIM:300842
HP:0001626	Abnormality of the cardiovascular system	283459	GATC	OMIM:618839
HP:0001626	Abnormality of the cardiovascular system	178	AGL	OMIM:232400
HP:0001626	Abnormality of the cardiovascular system	51099	ABHD5	ORPHA:98907
HP:0001626	Abnormality of the cardiovascular system	84700	MYO18B	OMIM:616549
HP:0001626	Abnormality of the cardiovascular system	55005	RMND1	OMIM:614922
HP:0001626	Abnormality of the cardiovascular system	3643	INSR	ORPHA:769
HP:0001626	Abnormality of the cardiovascular system	203859	ANO5	ORPHA:206549
HP:0001626	Abnormality of the cardiovascular system	25915	NDUFAF3	ORPHA:2609
HP:0001626	Abnormality of the cardiovascular system	91942	NDUFAF2	ORPHA:2609
HP:0001626	Abnormality of the cardiovascular system	51300	TIMMDC1	ORPHA:2609
HP:0001626	Abnormality of the cardiovascular system	4723	NDUFV1	ORPHA:2609
HP:0001626	Abnormality of the cardiovascular system	55572	FOXRED1	ORPHA:2609
HP:0001626	Abnormality of the cardiovascular system	55572	FOXRED1	OMIM:618241
HP:0001626	Abnormality of the cardiovascular system	284184	NDUFAF8	ORPHA:2609
HP:0001626	Abnormality of the cardiovascular system	4729	NDUFV2	ORPHA:2609
HP:0001626	Abnormality of the cardiovascular system	4729	NDUFV2	OMIM:618229
HP:0001626	Abnormality of the cardiovascular system	4694	NDUFA1	ORPHA:2609
HP:0001626	Abnormality of the cardiovascular system	4726	NDUFS6	ORPHA:2609
HP:0001626	Abnormality of the cardiovascular system	4728	NDUFS8	ORPHA:2609
HP:0001626	Abnormality of the cardiovascular system	4728	NDUFS8	OMIM:618222
HP:0001626	Abnormality of the cardiovascular system	4722	NDUFS3	ORPHA:2609
HP:0001626	Abnormality of the cardiovascular system	79133	NDUFAF5	ORPHA:2609
HP:0001626	Abnormality of the cardiovascular system	126328	NDUFA11	ORPHA:2609
HP:0001626	Abnormality of the cardiovascular system	126328	NDUFA11	OMIM:618236
HP:0001626	Abnormality of the cardiovascular system	4709	NDUFB3	ORPHA:2609
HP:0001626	Abnormality of the cardiovascular system	80224	NUBPL	ORPHA:2609
HP:0001626	Abnormality of the cardiovascular system	29078	NDUFAF4	ORPHA:2609
HP:0001626	Abnormality of the cardiovascular system	29078	NDUFAF4	OMIM:618237
HP:0001626	Abnormality of the cardiovascular system	374291	NDUFS7	ORPHA:2609
HP:0001626	Abnormality of the cardiovascular system	4700	NDUFA6	ORPHA:2609
HP:0001626	Abnormality of the cardiovascular system	4719	NDUFS1	ORPHA:2609
HP:0001626	Abnormality of the cardiovascular system	4715	NDUFB9	ORPHA:2609
HP:0001626	Abnormality of the cardiovascular system	4570	MT-TN	OMIM:220110
HP:0001626	Abnormality of the cardiovascular system	6834	SURF1	OMIM:220110
HP:0001626	Abnormality of the cardiovascular system	84334	COA8	ORPHA:436271
HP:0001626	Abnormality of the cardiovascular system	57176	VARS2	OMIM:615917
HP:0001626	Abnormality of the cardiovascular system	9690	UBE3C	OMIM:620270
HP:0001626	Abnormality of the cardiovascular system	84987	COX14	OMIM:619053
HP:0001626	Abnormality of the cardiovascular system	29967	LRP12	OMIM:164310
HP:0001626	Abnormality of the cardiovascular system	388962	BOLA3	OMIM:614299
HP:0001626	Abnormality of the cardiovascular system	65080	MRPL44	OMIM:615395
HP:0001626	Abnormality of the cardiovascular system	55210	ATAD3A	ORPHA:496790
HP:0001626	Abnormality of the cardiovascular system	55210	ATAD3A	OMIM:618810
HP:0001626	Abnormality of the cardiovascular system	55210	ATAD3A	OMIM:617183
HP:0001626	Abnormality of the cardiovascular system	4285	MIPEP	OMIM:617228
HP:0001626	Abnormality of the cardiovascular system	125988	MICOS13	OMIM:618329
HP:0001626	Abnormality of the cardiovascular system	122622	ADSS1	ORPHA:482601
HP:0001626	Abnormality of the cardiovascular system	5836	PYGL	ORPHA:369
HP:0001626	Abnormality of the cardiovascular system	51067	YARS2	OMIM:613561
HP:0001626	Abnormality of the cardiovascular system	58497	PRUNE1	ORPHA:544469
HP:0001626	Abnormality of the cardiovascular system	56945	MRPS22	OMIM:611719
HP:0001626	Abnormality of the cardiovascular system	4705	NDUFA10	OMIM:618243
HP:0001626	Abnormality of the cardiovascular system	11080	DNAJB4	OMIM:620326
HP:0001626	Abnormality of the cardiovascular system	63931	MRPS14	OMIM:618378
HP:0001626	Abnormality of the cardiovascular system	8802	SUCLG1	ORPHA:17
HP:0001626	Abnormality of the cardiovascular system	11019	LIAS	OMIM:614462
HP:0001626	Abnormality of the cardiovascular system	11222	MRPL3	OMIM:614582
HP:0001626	Abnormality of the cardiovascular system	55278	QRSL1	OMIM:618835
HP:0001626	Abnormality of the cardiovascular system	57570	TRMT5	OMIM:616539
HP:0001626	Abnormality of the cardiovascular system	617	BCS1L	OMIM:124000
HP:0001626	Abnormality of the cardiovascular system	84233	TMEM126A	OMIM:612989
HP:0001626	Abnormality of the cardiovascular system	9054	NFS1	OMIM:619386
HP:0001626	Abnormality of the cardiovascular system	22868	FASTKD2	OMIM:618855
HP:0001626	Abnormality of the cardiovascular system	1317	SLC31A1	OMIM:620306
HP:0001626	Abnormality of the cardiovascular system	25821	MTO1	OMIM:614702
HP:0001626	Abnormality of the cardiovascular system	91754	NEK9	OMIM:617022
HP:0001626	Abnormality of the cardiovascular system	3074	HEXB	OMIM:268800
HP:0001626	Abnormality of the cardiovascular system	1340	COX6B1	OMIM:619051
HP:0001626	Abnormality of the cardiovascular system	4718	NDUFC2	OMIM:619170
HP:0001626	Abnormality of the cardiovascular system	6773	STAT2	OMIM:618886
HP:0001626	Abnormality of the cardiovascular system	708	C1QBP	OMIM:617713
HP:0001626	Abnormality of the cardiovascular system	9377	COX5A	OMIM:619064
HP:0001626	Abnormality of the cardiovascular system	55697	VAC14	ORPHA:3472
HP:0001626	Abnormality of the cardiovascular system	22884	WDR37	OMIM:618652
HP:0001626	Abnormality of the cardiovascular system	3028	HSD17B10	ORPHA:391428
HP:0001626	Abnormality of the cardiovascular system	94005	PIGS	OMIM:618143
HP:0001626	Abnormality of the cardiovascular system	374354	NHLRC2	OMIM:618278
HP:0001626	Abnormality of the cardiovascular system	202018	TAPT1	OMIM:616897
HP:0001626	Abnormality of the cardiovascular system	5188	GATB	OMIM:618838
HP:0001626	Abnormality of the cardiovascular system	200424	TET3	OMIM:618798
HP:0001626	Abnormality of the cardiovascular system	7841	MOGS	ORPHA:79330
HP:0001626	Abnormality of the cardiovascular system	5236	PGM1	OMIM:614921
HP:0001626	Abnormality of the cardiovascular system	79645	CLXN	OMIM:620642
HP:0001626	Abnormality of the cardiovascular system	26229	B3GAT3	OMIM:245600
HP:0001626	Abnormality of the cardiovascular system	51025	PAM16	OMIM:613320
HP:0001626	Abnormality of the cardiovascular system	4713	NDUFB7	OMIM:620135
HP:0001626	Abnormality of the cardiovascular system	4669	NAGLU	OMIM:252920
HP:0001626	Abnormality of the cardiovascular system	90952	ESAM	OMIM:620371
HP:0001626	Abnormality of the cardiovascular system	64359	NXN	ORPHA:1507
HP:0001626	Abnormality of the cardiovascular system	132	ADK	OMIM:614300
HP:0001626	Abnormality of the cardiovascular system	10093	ARPC4	OMIM:620141
HP:0001626	Abnormality of the cardiovascular system	23291	FBXW11	OMIM:618914
HP:0001626	Abnormality of the cardiovascular system	80055	PGAP1	OMIM:615802
HP:0001626	Abnormality of the cardiovascular system	3097	HIVEP2	OMIM:616977
HP:0001626	Abnormality of the cardiovascular system	1757	SARDH	ORPHA:3129
HP:0001626	Abnormality of the cardiovascular system	9378	NRXN1	OMIM:614325
HP:0001626	Abnormality of the cardiovascular system	5718	PSMD12	ORPHA:529962
HP:0001626	Abnormality of the cardiovascular system	2186	BPTF	ORPHA:529962
HP:0001626	Abnormality of the cardiovascular system	93627	TBCK	ORPHA:488632
HP:0001626	Abnormality of the cardiovascular system	164781	DAW1	OMIM:620570
HP:0001626	Abnormality of the cardiovascular system	5337	PLD1	OMIM:212093
HP:0001626	Abnormality of the cardiovascular system	3490	IGFBP7	OMIM:614224
HP:0001626	Abnormality of the cardiovascular system	23137	SMC5	OMIM:620185
HP:0001626	Abnormality of the cardiovascular system	90416	CCDC32	OMIM:619123
HP:0001626	Abnormality of the cardiovascular system	84905	ZNF341	OMIM:618282
HP:0001626	Abnormality of the cardiovascular system	1107	CHD3	OMIM:618205
HP:0001626	Abnormality of the cardiovascular system	27161	AGO2	OMIM:619149
HP:0001626	Abnormality of the cardiovascular system	5908	RAP1B	OMIM:620654
HP:0001626	Abnormality of the cardiovascular system	100128908	CIROP	OMIM:619702
HP:0001626	Abnormality of the cardiovascular system	1828	DSG1	OMIM:615508
HP:0001626	Abnormality of the cardiovascular system	161742	SPRED1	ORPHA:137605
HP:0001626	Abnormality of the cardiovascular system	4038	LRP4	OMIM:212780
HP:0001626	Abnormality of the cardiovascular system	27034	ACAD8	ORPHA:79159
HP:0001626	Abnormality of the cardiovascular system	8726	EED	OMIM:617561
HP:0001626	Abnormality of the cardiovascular system	57178	ZMIZ1	OMIM:618659
HP:0001626	Abnormality of the cardiovascular system	5950	RBP4	OMIM:615147
HP:0001626	Abnormality of the cardiovascular system	57863	CADM3	OMIM:619519
HP:0001626	Abnormality of the cardiovascular system	93166	PRDM6	OMIM:617039
HP:0001626	Abnormality of the cardiovascular system	51021	MRPS16	OMIM:610498
HP:0001626	Abnormality of the cardiovascular system	79053	ALG8	OMIM:608104
HP:0001626	Abnormality of the cardiovascular system	5331	PLCB3	OMIM:618961
HP:0001626	Abnormality of the cardiovascular system	9757	KMT2B	OMIM:619934
HP:0001626	Abnormality of the cardiovascular system	23417	MLYCD	OMIM:248360
HP:0001626	Abnormality of the cardiovascular system	4312	MMP1	ORPHA:79408
HP:0001626	Abnormality of the cardiovascular system	5777	PTPN6	ORPHA:3243
HP:0001626	Abnormality of the cardiovascular system	57122	NUP107	OMIM:618348
HP:0001626	Abnormality of the cardiovascular system	57122	NUP107	OMIM:616730
HP:0001626	Abnormality of the cardiovascular system	10102	TSFM	OMIM:610505
HP:0001626	Abnormality of the cardiovascular system	1120	CHKB	OMIM:602541
HP:0001626	Abnormality of the cardiovascular system	55182	RNF220	OMIM:619688
HP:0001626	Abnormality of the cardiovascular system	8884	SLC5A6	OMIM:619903
HP:0001626	Abnormality of the cardiovascular system	326625	MMAB	OMIM:251110
HP:0001626	Abnormality of the cardiovascular system	1804	DPP6	OMIM:612956
HP:0001626	Abnormality of the cardiovascular system	26154	ABCA12	ORPHA:457
HP:0001626	Abnormality of the cardiovascular system	23529	CLCF1	ORPHA:1545
HP:0001626	Abnormality of the cardiovascular system	9244	CRLF1	ORPHA:1545
HP:0001626	Abnormality of the cardiovascular system	2182	ACSL4	ORPHA:86818
HP:0001626	Abnormality of the cardiovascular system	9949	AMMECR1	ORPHA:86818
HP:0001626	Abnormality of the cardiovascular system	8473	OGT	OMIM:300997
HP:0001626	Abnormality of the cardiovascular system	6650	CAPN15	OMIM:619318
HP:0001626	Abnormality of the cardiovascular system	55764	IFT122	OMIM:218330
HP:0001626	Abnormality of the cardiovascular system	1909	EDNRA	OMIM:616367
HP:0001626	Abnormality of the cardiovascular system	54828	BCAS3	OMIM:619641
HP:0001626	Abnormality of the cardiovascular system	2222	FDFT1	OMIM:618156
HP:0001626	Abnormality of the cardiovascular system	8518	ELP1	OMIM:223900
HP:0001626	Abnormality of the cardiovascular system	8518	ELP1	ORPHA:1764
HP:0001626	Abnormality of the cardiovascular system	5498	PPOX	OMIM:176200
HP:0001626	Abnormality of the cardiovascular system	5498	PPOX	ORPHA:79473
HP:0001626	Abnormality of the cardiovascular system	8029	CUBN	ORPHA:35858
HP:0001626	Abnormality of the cardiovascular system	81693	AMN	ORPHA:35858
HP:0001626	Abnormality of the cardiovascular system	1439	CSF2RB	ORPHA:264675
HP:0001626	Abnormality of the cardiovascular system	1438	CSF2RA	ORPHA:264675
HP:0001626	Abnormality of the cardiovascular system	9692	PRORP	OMIM:619737
HP:0001626	Abnormality of the cardiovascular system	1889	ECE1	OMIM:613870
HP:0001626	Abnormality of the cardiovascular system	3172	HNF4A	ORPHA:263455
HP:0001626	Abnormality of the cardiovascular system	7253	TSHR	OMIM:609152
HP:0001626	Abnormality of the cardiovascular system	7253	TSHR	OMIM:603373
HP:0001626	Abnormality of the cardiovascular system	2328	FMO3	OMIM:602079
HP:0001626	Abnormality of the cardiovascular system	2203	FBP1	ORPHA:348
HP:0001626	Abnormality of the cardiovascular system	2203	FBP1	OMIM:229700
HP:0001626	Abnormality of the cardiovascular system	5621	PRNP	ORPHA:466
HP:0001626	Abnormality of the cardiovascular system	3145	HMBS	OMIM:176000
HP:0001626	Abnormality of the cardiovascular system	3145	HMBS	ORPHA:79276
HP:0001626	Abnormality of the cardiovascular system	745	MYRF	OMIM:618280
HP:0001626	Abnormality of the cardiovascular system	1371	CPOX	OMIM:121300
HP:0001626	Abnormality of the cardiovascular system	1371	CPOX	ORPHA:79273
HP:0001626	Abnormality of the cardiovascular system	7068	THRB	ORPHA:566243
HP:0001626	Abnormality of the cardiovascular system	6006	RHCE	ORPHA:71275
HP:0001626	Abnormality of the cardiovascular system	6873	TAF2	OMIM:615599
HP:0001626	Abnormality of the cardiovascular system	23498	HAAO	OMIM:617660
HP:0001626	Abnormality of the cardiovascular system	84572	GNPTG	OMIM:252605
HP:0001626	Abnormality of the cardiovascular system	153642	ARSK	OMIM:619698
HP:0001626	Abnormality of the cardiovascular system	203286	ANKS6	OMIM:615382
HP:0001626	Abnormality of the cardiovascular system	54538	ROBO4	OMIM:618496
HP:0001626	Abnormality of the cardiovascular system	139285	AMER1	ORPHA:2780
HP:0001626	Abnormality of the cardiovascular system	11285	B4GALT7	ORPHA:75496
HP:0001626	Abnormality of the cardiovascular system	79753	SNIP1	OMIM:614501
HP:0001626	Abnormality of the cardiovascular system	1801	DPH1	ORPHA:459061
HP:0001626	Abnormality of the cardiovascular system	1802	DPH2	ORPHA:459061
HP:0001626	Abnormality of the cardiovascular system	23241	PACS2	OMIM:618067
HP:0001626	Abnormality of the cardiovascular system	55329	MNS1	OMIM:618948
HP:0001626	Abnormality of the cardiovascular system	6091	ROBO1	OMIM:620305
HP:0001626	Abnormality of the cardiovascular system	146845	CFAP52	OMIM:619607
HP:0001626	Abnormality of the cardiovascular system	388389	DNAAF19	OMIM:614679
HP:0001626	Abnormality of the cardiovascular system	79912	PYROXD1	OMIM:617258
HP:0001626	Abnormality of the cardiovascular system	6660	SOX5	ORPHA:313892
HP:0001626	Abnormality of the cardiovascular system	56915	EXOSC5	OMIM:619576
HP:0001626	Abnormality of the cardiovascular system	89970	RSPRY1	ORPHA:457395
HP:0001626	Abnormality of the cardiovascular system	22873	DZIP1	OMIM:610840
HP:0001626	Abnormality of the cardiovascular system	4054	LTBP3	OMIM:617809
HP:0001626	Abnormality of the cardiovascular system	375	ARF1	ORPHA:98892
HP:0001626	Abnormality of the cardiovascular system	4131	MAP1B	ORPHA:98892
HP:0001626	Abnormality of the cardiovascular system	23327	NEDD4L	ORPHA:98892
HP:0001626	Abnormality of the cardiovascular system	160418	TMTC3	ORPHA:98892
HP:0001626	Abnormality of the cardiovascular system	10564	ARFGEF2	ORPHA:98892
HP:0001626	Abnormality of the cardiovascular system	55780	ERMARD	ORPHA:98892
HP:0001626	Abnormality of the cardiovascular system	274	BIN1	ORPHA:169186
HP:0001626	Abnormality of the cardiovascular system	10290	SPEG	ORPHA:169186
HP:0001626	Abnormality of the cardiovascular system	6609	SMPD1	ORPHA:77293
HP:0001626	Abnormality of the cardiovascular system	2588	GALNS	OMIM:253000
HP:0001626	Abnormality of the cardiovascular system	2990	GUSB	OMIM:253220
HP:0001626	Abnormality of the cardiovascular system	11231	SEC63	ORPHA:2924
HP:0001626	Abnormality of the cardiovascular system	5589	PRKCSH	ORPHA:2924
HP:0001626	Abnormality of the cardiovascular system	9578	CDC42BPB	OMIM:619841
HP:0001626	Abnormality of the cardiovascular system	51506	UFC1	OMIM:618076
HP:0001626	Abnormality of the cardiovascular system	51434	ANAPC7	OMIM:619699
HP:0001626	Abnormality of the cardiovascular system	51008	ASCC1	OMIM:616867
HP:0001626	Abnormality of the cardiovascular system	1301	COL11A1	OMIM:228520
HP:0001626	Abnormality of the cardiovascular system	1763	DNA2	OMIM:615156
HP:0001626	Abnormality of the cardiovascular system	91461	PKDCC	OMIM:618821
HP:0001626	Abnormality of the cardiovascular system	6789	STK4	OMIM:614868
HP:0001626	Abnormality of the cardiovascular system	9739	SETD1A	OMIM:618832
HP:0001626	Abnormality of the cardiovascular system	79971	WLS	OMIM:619648
HP:0001626	Abnormality of the cardiovascular system	57479	PRR12	OMIM:619539
HP:0001626	Abnormality of the cardiovascular system	6535	SLC6A8	OMIM:300352
HP:0001626	Abnormality of the cardiovascular system	3033	HADH	ORPHA:71212
HP:0001626	Abnormality of the cardiovascular system	2057	EPOR	OMIM:133100
HP:0001626	Abnormality of the cardiovascular system	63036	CELA2A	OMIM:618620
HP:0001626	Abnormality of the cardiovascular system	1080	CFTR	ORPHA:60033
HP:0001626	Abnormality of the cardiovascular system	4040	LRP6	OMIM:610947
HP:0001626	Abnormality of the cardiovascular system	11093	ADAMTS13	OMIM:274150
HP:0001626	Abnormality of the cardiovascular system	4205	MEF2A	OMIM:608320
HP:0001626	Abnormality of the cardiovascular system	9149	DYRK1B	OMIM:615812
HP:0001626	Abnormality of the cardiovascular system	5277	PIGA	ORPHA:447
HP:0001626	Abnormality of the cardiovascular system	3081	HGD	ORPHA:56
HP:0001626	Abnormality of the cardiovascular system	4627	MYH9	OMIM:155100
HP:0001626	Abnormality of the cardiovascular system	4627	MYH9	ORPHA:182050
HP:0001626	Abnormality of the cardiovascular system	57187	THOC2	ORPHA:457240
HP:0001626	Abnormality of the cardiovascular system	4023	LPL	OMIM:144250
HP:0001626	Abnormality of the cardiovascular system	149233	IL23R	ORPHA:117
HP:0001626	Abnormality of the cardiovascular system	6775	STAT4	ORPHA:117
HP:0001626	Abnormality of the cardiovascular system	3586	IL10	ORPHA:117
HP:0001626	Abnormality of the cardiovascular system	1230	CCR1	ORPHA:117
HP:0001626	Abnormality of the cardiovascular system	101928376	IL12A-AS1	ORPHA:117
HP:0001626	Abnormality of the cardiovascular system	7099	TLR4	ORPHA:117
HP:0001626	Abnormality of the cardiovascular system	3459	IFNGR1	ORPHA:117
HP:0001626	Abnormality of the cardiovascular system	720	C4A	ORPHA:117
HP:0001626	Abnormality of the cardiovascular system	337867	UBAC2	ORPHA:117
HP:0001626	Abnormality of the cardiovascular system	51752	ERAP1	ORPHA:117
HP:0001626	Abnormality of the cardiovascular system	8302	KLRC4	ORPHA:117
HP:0001626	Abnormality of the cardiovascular system	1499	CTNNB1	ORPHA:54595
HP:0001626	Abnormality of the cardiovascular system	26128	KIFBP	OMIM:609460
HP:0001626	Abnormality of the cardiovascular system	23334	SZT2	OMIM:615476
HP:0001626	Abnormality of the cardiovascular system	4125	MAN2B1	ORPHA:309282
HP:0001626	Abnormality of the cardiovascular system	4125	MAN2B1	ORPHA:309288
HP:0001626	Abnormality of the cardiovascular system	613	BCR	ORPHA:261330
HP:0001626	Abnormality of the cardiovascular system	1399	CRKL	ORPHA:261330
HP:0001626	Abnormality of the cardiovascular system	388753	COA6	OMIM:616501
HP:0001626	Abnormality of the cardiovascular system	7703	PCGF2	OMIM:618371
HP:0001626	Abnormality of the cardiovascular system	728294	D2HGDH	OMIM:600721
HP:0001626	Abnormality of the cardiovascular system	113246	C12orf57	OMIM:218340
HP:0001626	Abnormality of the cardiovascular system	4702	NDUFA8	OMIM:619272
HP:0001626	Abnormality of the cardiovascular system	151648	SGO1	OMIM:616201
HP:0001626	Abnormality of the cardiovascular system	8022	LHX3	ORPHA:226307
HP:0001626	Abnormality of the cardiovascular system	3909	LAMA3	ORPHA:79404
HP:0001626	Abnormality of the cardiovascular system	3918	LAMC2	ORPHA:79404
HP:0001626	Abnormality of the cardiovascular system	3914	LAMB3	ORPHA:79404
HP:0001626	Abnormality of the cardiovascular system	7849	PAX8	OMIM:218700
HP:0001626	Abnormality of the cardiovascular system	4695	NDUFA2	OMIM:618235
HP:0001626	Abnormality of the cardiovascular system	51601	LIPT1	OMIM:616299
HP:0001626	Abnormality of the cardiovascular system	7252	TSHB	ORPHA:90674
HP:0001626	Abnormality of the cardiovascular system	95	ACY1	OMIM:609924
HP:0001626	Abnormality of the cardiovascular system	84340	GFM2	ORPHA:565624
HP:0001626	Abnormality of the cardiovascular system	11274	USP18	OMIM:617397
HP:0001626	Abnormality of the cardiovascular system	2902	GRIN1	OMIM:619814
HP:0001626	Abnormality of the cardiovascular system	405753	DUOXA2	ORPHA:95716
HP:0001626	Abnormality of the cardiovascular system	6528	SLC5A5	ORPHA:95716
HP:0001626	Abnormality of the cardiovascular system	7038	TG	ORPHA:95716
HP:0001626	Abnormality of the cardiovascular system	7173	TPO	ORPHA:95716
HP:0001626	Abnormality of the cardiovascular system	389434	IYD	ORPHA:95716
HP:0001626	Abnormality of the cardiovascular system	50506	DUOX2	ORPHA:95716
HP:0001626	Abnormality of the cardiovascular system	4358	MPV17	OMIM:256810
HP:0001626	Abnormality of the cardiovascular system	1892	ECHS1	OMIM:616277
HP:0001626	Abnormality of the cardiovascular system	132158	GLYCTK	OMIM:220120
HP:0001626	Abnormality of the cardiovascular system	51117	COQ4	OMIM:616276
HP:0001626	Abnormality of the cardiovascular system	57017	COQ9	OMIM:614654
HP:0001626	Abnormality of the cardiovascular system	27429	HTRA2	OMIM:617248
HP:0001626	Abnormality of the cardiovascular system	221927	BRAT1	OMIM:614498
HP:0001626	Abnormality of the cardiovascular system	8604	SLC25A12	OMIM:612949
HP:0001626	Abnormality of the cardiovascular system	8292	COLQ	ORPHA:98915
HP:0001626	Abnormality of the cardiovascular system	3192	HNRNPU	ORPHA:238769
HP:0001626	Abnormality of the cardiovascular system	894	CCND2	ORPHA:83473
HP:0001626	Abnormality of the cardiovascular system	5296	PIK3R2	ORPHA:83473
HP:0001626	Abnormality of the cardiovascular system	23556	PIGN	ORPHA:2059
HP:0001626	Abnormality of the cardiovascular system	25885	POLR1A	ORPHA:1200
HP:0001626	Abnormality of the cardiovascular system	10907	TXNL4A	ORPHA:1200
HP:0001626	Abnormality of the cardiovascular system	340419	RSPO2	ORPHA:3301
HP:0001626	Abnormality of the cardiovascular system	9496	TBX4	ORPHA:3301
HP:0001626	Abnormality of the cardiovascular system	1654	DDX3X	ORPHA:3338
HP:0001626	Abnormality of the cardiovascular system	92002	CCNQ	ORPHA:140952
HP:0001626	Abnormality of the cardiovascular system	55784	MCTP2	ORPHA:1596
HP:0001626	Abnormality of the cardiovascular system	55690	PACS1	OMIM:615009
HP:0001626	Abnormality of the cardiovascular system	6023	RMRP	ORPHA:175
HP:0001626	Abnormality of the cardiovascular system	9939	RBM8A	ORPHA:3320
HP:0001626	Abnormality of the cardiovascular system	672	BRCA1	ORPHA:84
HP:0001626	Abnormality of the cardiovascular system	10459	MAD2L2	ORPHA:84
HP:0001626	Abnormality of the cardiovascular system	7516	XRCC2	ORPHA:84
HP:0001626	Abnormality of the cardiovascular system	29089	UBE2T	ORPHA:84
HP:0001626	Abnormality of the cardiovascular system	675	BRCA2	ORPHA:84
HP:0001626	Abnormality of the cardiovascular system	55120	FANCL	ORPHA:84
HP:0001626	Abnormality of the cardiovascular system	2176	FANCC	ORPHA:84
HP:0001626	Abnormality of the cardiovascular system	2188	FANCF	ORPHA:84
HP:0001626	Abnormality of the cardiovascular system	2189	FANCG	ORPHA:84
HP:0001626	Abnormality of the cardiovascular system	5888	RAD51	ORPHA:84
HP:0001626	Abnormality of the cardiovascular system	55159	RFWD3	ORPHA:84
HP:0001626	Abnormality of the cardiovascular system	83990	BRIP1	ORPHA:84
HP:0001626	Abnormality of the cardiovascular system	57697	FANCM	ORPHA:84
HP:0001626	Abnormality of the cardiovascular system	79728	PALB2	ORPHA:84
HP:0001626	Abnormality of the cardiovascular system	84464	SLX4	ORPHA:84
HP:0001626	Abnormality of the cardiovascular system	118856	MMP21	OMIM:616749
HP:0001626	Abnormality of the cardiovascular system	7080	NKX2-1	ORPHA:209905
HP:0001626	Abnormality of the cardiovascular system	1760	DMPK	ORPHA:589821
HP:0001626	Abnormality of the cardiovascular system	389827	MYMK	OMIM:254940
HP:0001626	Abnormality of the cardiovascular system	27152	INTU	OMIM:617925
HP:0001626	Abnormality of the cardiovascular system	336	APOA2	OMIM:143890
HP:0001626	Abnormality of the cardiovascular system	2053	EPHX2	OMIM:143890
HP:0001626	Abnormality of the cardiovascular system	10842	PPP1R17	OMIM:143890
HP:0001626	Abnormality of the cardiovascular system	2690	GHR	OMIM:143890
HP:0001626	Abnormality of the cardiovascular system	2099	ESR1	ORPHA:785
HP:0001626	Abnormality of the cardiovascular system	79903	NAA60	OMIM:620786
HP:0001626	Abnormality of the cardiovascular system	146862	UNC45B	OMIM:619178
HP:0001626	Abnormality of the cardiovascular system	3949	LDLR	ORPHA:391665
HP:0001626	Abnormality of the cardiovascular system	255738	PCSK9	ORPHA:391665
HP:0001626	Abnormality of the cardiovascular system	26119	LDLRAP1	ORPHA:391665
HP:0001626	Abnormality of the cardiovascular system	338	APOB	ORPHA:391665
HP:0001626	Abnormality of the cardiovascular system	64240	ABCG5	ORPHA:391665
HP:0001626	Abnormality of the cardiovascular system	64241	ABCG8	ORPHA:391665
HP:0001626	Abnormality of the cardiovascular system	5373	PMM2	ORPHA:79318
HP:0001626	Abnormality of the cardiovascular system	3990	LIPC	OMIM:614025
HP:0001626	Abnormality of the cardiovascular system	3990	LIPC	ORPHA:140905
HP:0001626	Abnormality of the cardiovascular system	1593	CYP27A1	OMIM:213700
HP:0001626	Abnormality of the cardiovascular system	1493	CTLA4	ORPHA:900
HP:0001626	Abnormality of the cardiovascular system	26191	PTPN22	ORPHA:900
HP:0001626	Abnormality of the cardiovascular system	3115	HLA-DPB1	ORPHA:900
HP:0001626	Abnormality of the cardiovascular system	5657	PRTN3	ORPHA:900
HP:0001626	Abnormality of the cardiovascular system	3113	HLA-DPA1	ORPHA:900
HP:0001626	Abnormality of the cardiovascular system	3425	IDUA	ORPHA:93473
HP:0001626	Abnormality of the cardiovascular system	19	ABCA1	ORPHA:425
HP:0001626	Abnormality of the cardiovascular system	3931	LCAT	ORPHA:79292
HP:0001626	Abnormality of the cardiovascular system	348	APOE	ORPHA:412
HP:0001626	Abnormality of the cardiovascular system	29081	METTL5	OMIM:618665
HP:0001626	Abnormality of the cardiovascular system	256297	PTF1A	OMIM:609069
HP:0001626	Abnormality of the cardiovascular system	79759	ZNF668	OMIM:620194
HP:0001626	Abnormality of the cardiovascular system	471	ATIC	OMIM:608688
HP:0001626	Abnormality of the cardiovascular system	10079	ATP9A	OMIM:620242
HP:0001626	Abnormality of the cardiovascular system	1974	EIF4A2	OMIM:620455
HP:0001626	Abnormality of the cardiovascular system	283446	MYO1H	OMIM:619482
HP:0001626	Abnormality of the cardiovascular system	341208	HEPHL1	OMIM:261990
HP:0001626	Abnormality of the cardiovascular system	1861	TOR1A	OMIM:618947
HP:0001626	Abnormality of the cardiovascular system	6182	MRPL12	OMIM:618951
HP:0001626	Abnormality of the cardiovascular system	54675	CRLS1	OMIM:620167
HP:0001626	Abnormality of the cardiovascular system	55750	AGK	OMIM:212350
HP:0001626	Abnormality of the cardiovascular system	5396	PRRX1	ORPHA:990
HP:0001626	Abnormality of the cardiovascular system	5396	PRRX1	OMIM:202650
HP:0001626	Abnormality of the cardiovascular system	4487	MSX1	ORPHA:199302
HP:0001626	Abnormality of the cardiovascular system	5818	NECTIN1	ORPHA:199302
HP:0001626	Abnormality of the cardiovascular system	3664	IRF6	ORPHA:199302
HP:0001626	Abnormality of the cardiovascular system	54014	BRWD1	OMIM:620438
HP:0001626	Abnormality of the cardiovascular system	25790	CFAP45	OMIM:619608
HP:0001626	Abnormality of the cardiovascular system	10126	DNAL4	OMIM:616059
HP:0001626	Abnormality of the cardiovascular system	83483	PLVAP	OMIM:618183
HP:0001626	Abnormality of the cardiovascular system	55388	MCM10	OMIM:619313
HP:0001626	Abnormality of the cardiovascular system	5784	PTPN14	OMIM:613611
HP:0001626	Abnormality of the cardiovascular system	51611	DPH5	OMIM:620070
HP:0001626	Abnormality of the cardiovascular system	84162	BLTP1	OMIM:617822
HP:0001626	Abnormality of the cardiovascular system	10203	CALCRL	OMIM:618773
HP:0001626	Abnormality of the cardiovascular system	6729	SRP54	OMIM:260400
HP:0001626	Abnormality of the cardiovascular system	10216	PRG4	ORPHA:2848
HP:0001626	Abnormality of the cardiovascular system	139818	DOCK11	OMIM:301109
HP:0001626	Abnormality of the cardiovascular system	2212	FCGR2A	OMIM:152700
HP:0001626	Abnormality of the cardiovascular system	9158	FIBP	ORPHA:500095
HP:0001626	Abnormality of the cardiovascular system	5593	PRKG2	OMIM:619636
HP:0001626	Abnormality of the cardiovascular system	51343	FZR1	OMIM:620145
HP:0001626	Abnormality of the cardiovascular system	10159	ATP6AP2	ORPHA:93952
HP:0001626	Abnormality of the cardiovascular system	83715	ESPN	OMIM:618632
HP:0001626	Abnormality of the cardiovascular system	54931	TRMT10C	OMIM:616974
HP:0001626	Abnormality of the cardiovascular system	27010	TPK1	OMIM:614458
HP:0001626	Abnormality of the cardiovascular system	57592	ZNF687	OMIM:616833
HP:0001626	Abnormality of the cardiovascular system	7707	ZNF148	OMIM:617260
HP:0001626	Abnormality of the cardiovascular system	127833	SYT2	OMIM:619461
HP:0001626	Abnormality of the cardiovascular system	7319	UBE2A	ORPHA:163956
HP:0001626	Abnormality of the cardiovascular system	779	CACNA1S	ORPHA:423
HP:0001626	Abnormality of the cardiovascular system	1062	CENPE	OMIM:616051
HP:0001626	Abnormality of the cardiovascular system	4609	MYC	ORPHA:543
HP:0001626	Abnormality of the cardiovascular system	7293	TNFRSF4	OMIM:615593
HP:0001626	Abnormality of the cardiovascular system	5994	RFXAP	OMIM:620817
HP:0001626	Abnormality of the cardiovascular system	8573	CASK	OMIM:300908
HP:0001626	Abnormality of the cardiovascular system	2539	G6PD	OMIM:300908
HP:0001626	Abnormality of the cardiovascular system	55240	STEAP3	OMIM:615234
HP:0001626	Abnormality of the cardiovascular system	84433	CARD11	OMIM:616452
HP:0001626	Abnormality of the cardiovascular system	4689	NCF4	ORPHA:379
HP:0001626	Abnormality of the cardiovascular system	60561	RINT1	OMIM:618641
HP:0001626	Abnormality of the cardiovascular system	6573	SLC19A1	OMIM:620603
HP:0001626	Abnormality of the cardiovascular system	1441	CSF3R	OMIM:162830
HP:0001626	Abnormality of the cardiovascular system	2035	EPB41	ORPHA:288
HP:0001626	Abnormality of the cardiovascular system	2035	EPB41	OMIM:611804
HP:0001626	Abnormality of the cardiovascular system	2995	GYPC	ORPHA:288
HP:0001626	Abnormality of the cardiovascular system	6710	SPTB	ORPHA:288
HP:0001626	Abnormality of the cardiovascular system	6710	SPTB	ORPHA:822
HP:0001626	Abnormality of the cardiovascular system	6710	SPTB	OMIM:616649
HP:0001626	Abnormality of the cardiovascular system	6708	SPTA1	ORPHA:288
HP:0001626	Abnormality of the cardiovascular system	6708	SPTA1	ORPHA:822
HP:0001626	Abnormality of the cardiovascular system	80739	MPIG6B	OMIM:617441
HP:0001626	Abnormality of the cardiovascular system	10661	KLF1	ORPHA:46532
HP:0001626	Abnormality of the cardiovascular system	10661	KLF1	ORPHA:251380
HP:0001626	Abnormality of the cardiovascular system	10661	KLF1	OMIM:613673
HP:0001626	Abnormality of the cardiovascular system	3047	HBG1	ORPHA:46532
HP:0001626	Abnormality of the cardiovascular system	3047	HBG1	ORPHA:251380
HP:0001626	Abnormality of the cardiovascular system	3048	HBG2	ORPHA:46532
HP:0001626	Abnormality of the cardiovascular system	3048	HBG2	ORPHA:251380
HP:0001626	Abnormality of the cardiovascular system	285362	SUMF1	OMIM:272200
HP:0001626	Abnormality of the cardiovascular system	285362	SUMF1	ORPHA:585
HP:0001626	Abnormality of the cardiovascular system	11311	VPS45	OMIM:615285
HP:0001626	Abnormality of the cardiovascular system	2683	B4GALT1	ORPHA:79332
HP:0001626	Abnormality of the cardiovascular system	54532	USP53	OMIM:619658
HP:0001626	Abnormality of the cardiovascular system	65992	DDRGK1	OMIM:602557
HP:0001626	Abnormality of the cardiovascular system	6448	SGSH	OMIM:252900
HP:0001626	Abnormality of the cardiovascular system	22806	IKZF3	OMIM:619437
HP:0001626	Abnormality of the cardiovascular system	9842	PLEKHM1	OMIM:618107
HP:0001626	Abnormality of the cardiovascular system	6916	TBXAS1	ORPHA:1802
HP:0001626	Abnormality of the cardiovascular system	53335	BCL11A	ORPHA:251380
HP:0001626	Abnormality of the cardiovascular system	22861	NLRP1	OMIM:617388
HP:0001626	Abnormality of the cardiovascular system	537	ATP6AP1	OMIM:300972
HP:0001626	Abnormality of the cardiovascular system	6718	AKR1D1	OMIM:235555
HP:0001626	Abnormality of the cardiovascular system	10092	ARPC5	OMIM:620565
HP:0001626	Abnormality of the cardiovascular system	4864	NPC1	OMIM:257220
HP:0001626	Abnormality of the cardiovascular system	212	ALAS2	ORPHA:75563
HP:0001626	Abnormality of the cardiovascular system	8883	NAE1	OMIM:620210
HP:0001626	Abnormality of the cardiovascular system	84701	COX4I2	OMIM:612714
HP:0001626	Abnormality of the cardiovascular system	8943	AP3D1	OMIM:617050
HP:0001626	Abnormality of the cardiovascular system	57003	CCDC47	OMIM:618268
HP:0001626	Abnormality of the cardiovascular system	9420	CYP7B1	OMIM:613812
HP:0001626	Abnormality of the cardiovascular system	84868	HAVCR2	OMIM:618398
HP:0001626	Abnormality of the cardiovascular system	60468	BACH2	OMIM:618394
HP:0001626	Abnormality of the cardiovascular system	3557	IL1RN	OMIM:612852
HP:0001626	Abnormality of the cardiovascular system	2799	GNS	OMIM:252940
HP:0001626	Abnormality of the cardiovascular system	4938	OAS1	OMIM:618042
HP:0001626	Abnormality of the cardiovascular system	3295	HSD17B4	OMIM:261515
HP:0001626	Abnormality of the cardiovascular system	5313	PKLR	ORPHA:766
HP:0001626	Abnormality of the cardiovascular system	5313	PKLR	OMIM:266200
HP:0001626	Abnormality of the cardiovascular system	5257	PHKB	OMIM:261750
HP:0001626	Abnormality of the cardiovascular system	5257	PHKB	ORPHA:79240
HP:0001626	Abnormality of the cardiovascular system	146059	CDAN1	OMIM:224120
HP:0001626	Abnormality of the cardiovascular system	2038	EPB42	ORPHA:822
HP:0001626	Abnormality of the cardiovascular system	2038	EPB42	OMIM:612690
HP:0001626	Abnormality of the cardiovascular system	3604	TNFRSF9	OMIM:620282
HP:0001626	Abnormality of the cardiovascular system	8647	ABCB11	OMIM:601847
HP:0001626	Abnormality of the cardiovascular system	8546	AP3B1	OMIM:608233
HP:0001626	Abnormality of the cardiovascular system	23230	VPS13A	ORPHA:2388
HP:0001626	Abnormality of the cardiovascular system	84317	CCDC115	OMIM:616828
HP:0001626	Abnormality of the cardiovascular system	28962	OSTM1	OMIM:259720
HP:0001626	Abnormality of the cardiovascular system	57410	SCYL1	OMIM:616719
HP:0001626	Abnormality of the cardiovascular system	219285	SAMD9L	ORPHA:2585
HP:0001626	Abnormality of the cardiovascular system	84529	CDIN1	OMIM:615631
HP:0001626	Abnormality of the cardiovascular system	6513	SLC2A1	OMIM:612126
HP:0001626	Abnormality of the cardiovascular system	6513	SLC2A1	OMIM:608885
HP:0001626	Abnormality of the cardiovascular system	11133	KPTN	OMIM:615637
HP:0001626	Abnormality of the cardiovascular system	669	BPGM	OMIM:222800
HP:0001626	Abnormality of the cardiovascular system	9663	LPIN2	ORPHA:77297
HP:0001626	Abnormality of the cardiovascular system	51218	GLRX5	OMIM:616860
HP:0001626	Abnormality of the cardiovascular system	2821	GPI	OMIM:613470
HP:0001626	Abnormality of the cardiovascular system	5265	SERPINA1	OMIM:613490
HP:0001626	Abnormality of the cardiovascular system	5205	ATP8B1	OMIM:211600
HP:0001626	Abnormality of the cardiovascular system	2065	ERBB3	OMIM:133180
HP:0001626	Abnormality of the cardiovascular system	7040	TGFB1	ORPHA:1328
HP:0001626	Abnormality of the cardiovascular system	100506658	OCLN	OMIM:251290
HP:0001626	Abnormality of the cardiovascular system	10577	NPC2	OMIM:607625
HP:0001626	Abnormality of the cardiovascular system	2819	GPD1	OMIM:614480
HP:0001626	Abnormality of the cardiovascular system	4724	NDUFS4	OMIM:252010
HP:0001626	Abnormality of the cardiovascular system	139886	SPIN4	OMIM:301114
HP:0001626	Abnormality of the cardiovascular system	3636	INPPL1	ORPHA:2746
HP:0001626	Abnormality of the cardiovascular system	3921	RPSA	OMIM:271400
HP:0001626	Abnormality of the cardiovascular system	63901	FAM111A	OMIM:602361
HP:0001626	Abnormality of the cardiovascular system	55012	PPP2R3C	OMIM:618419
HP:0001626	Abnormality of the cardiovascular system	2165	F13B	ORPHA:331
HP:0001626	Abnormality of the cardiovascular system	2162	F13A1	ORPHA:331
HP:0001626	Abnormality of the cardiovascular system	10559	SLC35A1	ORPHA:238459
HP:0001626	Abnormality of the cardiovascular system	10559	SLC35A1	OMIM:603585
HP:0001626	Abnormality of the cardiovascular system	5054	SERPINE1	ORPHA:465
HP:0001626	Abnormality of the cardiovascular system	2048	EPHB2	OMIM:618462
HP:0001626	Abnormality of the cardiovascular system	2157	F8	ORPHA:169805
HP:0001626	Abnormality of the cardiovascular system	9213	XPR1	ORPHA:1980
HP:0001626	Abnormality of the cardiovascular system	5159	PDGFRB	ORPHA:1980
HP:0001626	Abnormality of the cardiovascular system	57462	MYORG	ORPHA:1980
HP:0001626	Abnormality of the cardiovascular system	6575	SLC20A2	ORPHA:1980
HP:0001626	Abnormality of the cardiovascular system	58494	JAM2	ORPHA:1980
HP:0001626	Abnormality of the cardiovascular system	5627	PROS1	ORPHA:743
HP:0001626	Abnormality of the cardiovascular system	1134	CHRNA1	OMIM:253290
HP:0001626	Abnormality of the cardiovascular system	1144	CHRND	OMIM:253290
HP:0001626	Abnormality of the cardiovascular system	2010	EMD	OMIM:310300
HP:0001626	Abnormality of the cardiovascular system	84133	ZNRF3	ORPHA:1501
HP:0001626	Abnormality of the cardiovascular system	7528	YY1	ORPHA:97279
HP:0001626	Abnormality of the cardiovascular system	23479	ISCU	OMIM:255125
HP:0001626	Abnormality of the cardiovascular system	1351	COX8A	OMIM:619059
HP:0001626	Abnormality of the cardiovascular system	27247	NFU1	OMIM:605711
HP:0001626	Abnormality of the cardiovascular system	54938	SARS2	OMIM:613845
HP:0001626	Abnormality of the cardiovascular system	1798	DPAGT1	ORPHA:86309
HP:0001626	Abnormality of the cardiovascular system	249	ALPL	OMIM:241500
HP:0001626	Abnormality of the cardiovascular system	1584	CYP11B1	ORPHA:90795
HP:0001626	Abnormality of the cardiovascular system	1584	CYP11B1	ORPHA:403
HP:0001626	Abnormality of the cardiovascular system	1284	COL4A2	OMIM:614483
HP:0001626	Abnormality of the cardiovascular system	1181	CLCN2	ORPHA:404
HP:0001626	Abnormality of the cardiovascular system	7049	TGFBR3	ORPHA:231160
HP:0001626	Abnormality of the cardiovascular system	83854	ANGPTL6	ORPHA:231160
HP:0001626	Abnormality of the cardiovascular system	6005	RHAG	OMIM:185000
HP:0001626	Abnormality of the cardiovascular system	7056	THBD	OMIM:614486
HP:0001626	Abnormality of the cardiovascular system	5354	PLP1	ORPHA:99015
HP:0001626	Abnormality of the cardiovascular system	229	ALDOB	OMIM:229600
HP:0001626	Abnormality of the cardiovascular system	80270	HSD3B7	ORPHA:79301
HP:0001626	Abnormality of the cardiovascular system	4072	EPCAM	ORPHA:144
HP:0001626	Abnormality of the cardiovascular system	4292	MLH1	ORPHA:144
HP:0001626	Abnormality of the cardiovascular system	5395	PMS2	ORPHA:144
HP:0001626	Abnormality of the cardiovascular system	2956	MSH6	ORPHA:144
HP:0001626	Abnormality of the cardiovascular system	5378	PMS1	ORPHA:144
HP:0001626	Abnormality of the cardiovascular system	4436	MSH2	ORPHA:144
HP:0001626	Abnormality of the cardiovascular system	4595	MUTYH	ORPHA:440437
HP:0001626	Abnormality of the cardiovascular system	11200	CHEK2	ORPHA:440437
HP:0001626	Abnormality of the cardiovascular system	2160	F11	ORPHA:329
HP:0001626	Abnormality of the cardiovascular system	6578	SLCO2A1	ORPHA:2796
HP:0001626	Abnormality of the cardiovascular system	324	APC	ORPHA:873
HP:0001626	Abnormality of the cardiovascular system	493856	CISD2	ORPHA:3463
HP:0001626	Abnormality of the cardiovascular system	7466	WFS1	ORPHA:3463
HP:0001626	Abnormality of the cardiovascular system	10165	SLC25A13	ORPHA:247598
HP:0001626	Abnormality of the cardiovascular system	5156	PDGFRA	ORPHA:44890
HP:0001626	Abnormality of the cardiovascular system	79651	RHBDF2	ORPHA:2198
HP:0001626	Abnormality of the cardiovascular system	2184	FAH	OMIM:276700
HP:0001626	Abnormality of the cardiovascular system	6794	STK11	ORPHA:2869
HP:0001626	Abnormality of the cardiovascular system	9493	KIF23	ORPHA:98870
HP:0001626	Abnormality of the cardiovascular system	29127	RACGAP1	ORPHA:98870
HP:0001626	Abnormality of the cardiovascular system	3980	LIG3	OMIM:619780
HP:0001626	Abnormality of the cardiovascular system	54344	DPM3	ORPHA:263494
HP:0001626	Abnormality of the cardiovascular system	91869	RFT1	ORPHA:244310
HP:0001626	Abnormality of the cardiovascular system	23600	AMACR	ORPHA:79095
HP:0001626	Abnormality of the cardiovascular system	129607	CMPK2	OMIM:621018
HP:0001626	Abnormality of the cardiovascular system	3569	IL6	OMIM:108010
HP:0001626	Abnormality of the cardiovascular system	57551	TAOK1	OMIM:619575
HP:0001626	Abnormality of the cardiovascular system	26585	GREM1	ORPHA:157794
HP:0001626	Abnormality of the cardiovascular system	3587	IL10RA	OMIM:613148
HP:0001626	Abnormality of the cardiovascular system	55072	RNF31	OMIM:620632
HP:0001626	Abnormality of the cardiovascular system	7010	TEK	ORPHA:1059
HP:0001626	Abnormality of the cardiovascular system	4010	LMX1B	ORPHA:2614
HP:0001626	Abnormality of the cardiovascular system	4000	LMNA	ORPHA:1662
HP:0001626	Abnormality of the cardiovascular system	10269	ZMPSTE24	ORPHA:1662
HP:0001626	Abnormality of the cardiovascular system	5728	PTEN	OMIM:158350
HP:0001626	Abnormality of the cardiovascular system	6571	SLC18A2	ORPHA:352649
HP:0001626	Abnormality of the cardiovascular system	3155	HMGCL	ORPHA:20
HP:0001626	Abnormality of the cardiovascular system	6492	SIM1	ORPHA:369873
HP:0001626	Abnormality of the cardiovascular system	4791	NFKB2	ORPHA:293978
HP:0001626	Abnormality of the cardiovascular system	1636	ACE	OMIM:267430
HP:0001626	Abnormality of the cardiovascular system	183	AGT	OMIM:267430
HP:0001626	Abnormality of the cardiovascular system	185	AGTR1	OMIM:267430
HP:0001626	Abnormality of the cardiovascular system	5972	REN	OMIM:267430
HP:0001626	Abnormality of the cardiovascular system	1639	DCTN1	ORPHA:178509
HP:0001626	Abnormality of the cardiovascular system	1644	DDC	ORPHA:35708
HP:0001626	Abnormality of the cardiovascular system	1644	DDC	OMIM:608643
HP:0001626	Abnormality of the cardiovascular system	4221	MEN1	ORPHA:2965
HP:0001626	Abnormality of the cardiovascular system	3284	HSD3B2	ORPHA:90791
HP:0001626	Abnormality of the cardiovascular system	1585	CYP11B2	OMIM:203400
HP:0001626	Abnormality of the cardiovascular system	1585	CYP11B2	ORPHA:556030
HP:0001626	Abnormality of the cardiovascular system	2332	FMR1	ORPHA:93256
HP:0001626	Abnormality of the cardiovascular system	1583	CYP11A1	ORPHA:289548
HP:0001626	Abnormality of the cardiovascular system	1583	CYP11A1	ORPHA:168558
HP:0001626	Abnormality of the cardiovascular system	5144	PDE4D	ORPHA:439822
HP:0001626	Abnormality of the cardiovascular system	4582	MUC1	OMIM:174000
HP:0001626	Abnormality of the cardiovascular system	213	ALB	OMIM:616000
HP:0001626	Abnormality of the cardiovascular system	29926	GMPPA	ORPHA:869
HP:0001626	Abnormality of the cardiovascular system	60684	TRAPPC11	ORPHA:869
HP:0001626	Abnormality of the cardiovascular system	8086	AAAS	ORPHA:869
HP:0001626	Abnormality of the cardiovascular system	5626	PROP1	ORPHA:95494
HP:0001626	Abnormality of the cardiovascular system	5626	PROP1	ORPHA:90695
HP:0001626	Abnormality of the cardiovascular system	89884	LHX4	ORPHA:95494
HP:0001626	Abnormality of the cardiovascular system	3170	FOXA2	ORPHA:95494
HP:0001626	Abnormality of the cardiovascular system	5449	POU1F1	ORPHA:95494
HP:0001626	Abnormality of the cardiovascular system	4306	NR3C2	OMIM:177735
HP:0001626	Abnormality of the cardiovascular system	866	SERPINA6	OMIM:611489
HP:0001626	Abnormality of the cardiovascular system	3662	IRF4	ORPHA:3452
HP:0001626	Abnormality of the cardiovascular system	38	ACAT1	ORPHA:134
HP:0001626	Abnormality of the cardiovascular system	6440	SFTPC	ORPHA:685082
HP:0001626	Abnormality of the cardiovascular system	21	ABCA3	ORPHA:685082
HP:0001626	Abnormality of the cardiovascular system	6439	SFTPB	ORPHA:685082
HP:0001626	Abnormality of the cardiovascular system	9095	TBX19	ORPHA:199296
HP:0001626	Abnormality of the cardiovascular system	56246	MRAP	ORPHA:361
HP:0001626	Abnormality of the cardiovascular system	6770	STAR	ORPHA:361
HP:0001626	Abnormality of the cardiovascular system	4158	MC2R	ORPHA:361
HP:0001626	Abnormality of the cardiovascular system	23530	NNT	ORPHA:361
HP:0001626	Abnormality of the cardiovascular system	8942	KYNU	ORPHA:79155
HP:0001626	Abnormality of the cardiovascular system	5052	PRDX1	OMIM:277400
HP:0001626	Abnormality of the cardiovascular system	8425	LTBP4	OMIM:613177
HP:0001626	Abnormality of the cardiovascular system	3110	MNX1	OMIM:176450
HP:0001626	Abnormality of the cardiovascular system	3798	KIF5A	ORPHA:100991
HP:0001626	Abnormality of the cardiovascular system	285	ANGPT2	ORPHA:79452
HP:0001626	Abnormality of the cardiovascular system	57165	GJC2	ORPHA:79452
HP:0001626	Abnormality of the cardiovascular system	11146	GLMN	ORPHA:83454
HP:0001626	Abnormality of the cardiovascular system	6557	SLC12A1	OMIM:601678
HP:0001626	Abnormality of the cardiovascular system	3758	KCNJ1	OMIM:241200
HP:0001626	Abnormality of the cardiovascular system	90268	OTULIN	OMIM:617099
HP:0001626	Abnormality of the cardiovascular system	9051	PSTPIP1	OMIM:601979
HP:0001626	Abnormality of the cardiovascular system	4068	SH2D1A	OMIM:308240
HP:0001626	Abnormality of the cardiovascular system	331	XIAP	OMIM:308240
HP:0001626	Abnormality of the cardiovascular system	6583	SLC22A4	OMIM:180300
HP:0001626	Abnormality of the cardiovascular system	4261	CIITA	OMIM:180300
HP:0001626	Abnormality of the cardiovascular system	51744	CD244	OMIM:180300
HP:0001626	Abnormality of the cardiovascular system	4795	NFKBIL1	OMIM:180300
HP:0001626	Abnormality of the cardiovascular system	847	CAT	ORPHA:926
HP:0001626	Abnormality of the cardiovascular system	1604	CD55	OMIM:226300
HP:0001626	Abnormality of the cardiovascular system	64170	CARD9	OMIM:212050
HP:0001626	Abnormality of the cardiovascular system	3071	NCKAP1L	OMIM:618982
HP:0001626	Abnormality of the cardiovascular system	3560	IL2RB	ORPHA:85408
HP:0001626	Abnormality of the cardiovascular system	3560	IL2RB	OMIM:618495
HP:0001626	Abnormality of the cardiovascular system	79722	ANKRD55	ORPHA:85408
HP:0001626	Abnormality of the cardiovascular system	919	CD247	ORPHA:85408
HP:0001626	Abnormality of the cardiovascular system	3559	IL2RA	ORPHA:85408
HP:0001626	Abnormality of the cardiovascular system	3559	IL2RA	OMIM:606367
HP:0001626	Abnormality of the cardiovascular system	5771	PTPN2	ORPHA:85408
HP:0001626	Abnormality of the cardiovascular system	939	CD27	OMIM:615122
HP:0001626	Abnormality of the cardiovascular system	23149	FCHO1	OMIM:619164
HP:0001626	Abnormality of the cardiovascular system	2130	EWSR1	ORPHA:83469
HP:0001626	Abnormality of the cardiovascular system	3162	HMOX1	OMIM:614034
HP:0001626	Abnormality of the cardiovascular system	841	CASP8	OMIM:607271
HP:0001626	Abnormality of the cardiovascular system	8456	FOXN1	ORPHA:83471
HP:0001626	Abnormality of the cardiovascular system	56259	CTNNBL1	OMIM:619846
HP:0001626	Abnormality of the cardiovascular system	7374	UNG	OMIM:608106
HP:0001626	Abnormality of the cardiovascular system	28755	TRAC	OMIM:615387
HP:0001626	Abnormality of the cardiovascular system	10125	RASGRP1	OMIM:618534
HP:0001626	Abnormality of the cardiovascular system	3492	IGH	ORPHA:52416
HP:0001626	Abnormality of the cardiovascular system	3492	IGH	ORPHA:52417
HP:0001626	Abnormality of the cardiovascular system	3492	IGH	ORPHA:545
HP:0001626	Abnormality of the cardiovascular system	330	BIRC3	ORPHA:52417
HP:0001626	Abnormality of the cardiovascular system	10892	MALT1	ORPHA:52417
HP:0001626	Abnormality of the cardiovascular system	8915	BCL10	ORPHA:52417
HP:0001626	Abnormality of the cardiovascular system	9636	ISG15	OMIM:616126
HP:0001626	Abnormality of the cardiovascular system	6049	RNF6	ORPHA:99977
HP:0001626	Abnormality of the cardiovascular system	9940	DLEC1	ORPHA:99977
HP:0001626	Abnormality of the cardiovascular system	64421	DCLRE1C	OMIM:603554
HP:0001626	Abnormality of the cardiovascular system	64421	DCLRE1C	ORPHA:39041
HP:0001626	Abnormality of the cardiovascular system	3575	IL7R	ORPHA:169154
HP:0001626	Abnormality of the cardiovascular system	3575	IL7R	ORPHA:39041
HP:0001626	Abnormality of the cardiovascular system	3575	IL7R	OMIM:608971
HP:0001626	Abnormality of the cardiovascular system	5293	PIK3CD	ORPHA:397596
HP:0001626	Abnormality of the cardiovascular system	5293	PIK3CD	OMIM:615513
HP:0001626	Abnormality of the cardiovascular system	57169	ZNFX1	OMIM:619644
HP:0001626	Abnormality of the cardiovascular system	8565	YARS1	OMIM:619418
HP:0001626	Abnormality of the cardiovascular system	1535	CYBA	OMIM:233690
HP:0001626	Abnormality of the cardiovascular system	51311	TLR8	OMIM:301078
HP:0001626	Abnormality of the cardiovascular system	1536	CYBB	OMIM:306400
HP:0001626	Abnormality of the cardiovascular system	3394	IRF8	OMIM:614893
HP:0001626	Abnormality of the cardiovascular system	3394	IRF8	ORPHA:319600
HP:0001626	Abnormality of the cardiovascular system	4688	NCF2	OMIM:233710
HP:0001626	Abnormality of the cardiovascular system	100151683	RNU4ATAC	ORPHA:353298
HP:0001626	Abnormality of the cardiovascular system	100151683	RNU4ATAC	OMIM:616651
HP:0001626	Abnormality of the cardiovascular system	596	BCL2	ORPHA:545
HP:0001626	Abnormality of the cardiovascular system	604	BCL6	ORPHA:545
HP:0001626	Abnormality of the cardiovascular system	4173	MCM4	OMIM:609981
HP:0001626	Abnormality of the cardiovascular system	57379	AICDA	OMIM:605258
HP:0001626	Abnormality of the cardiovascular system	9948	WDR1	OMIM:150550
HP:0001626	Abnormality of the cardiovascular system	81858	SHARPIN	OMIM:620795
HP:0001626	Abnormality of the cardiovascular system	9837	GINS1	OMIM:617827
HP:0001626	Abnormality of the cardiovascular system	5978	REST	ORPHA:654
HP:0001626	Abnormality of the cardiovascular system	10155	TRIM28	ORPHA:654
HP:0001626	Abnormality of the cardiovascular system	11281	POU6F2	ORPHA:654
HP:0001626	Abnormality of the cardiovascular system	427	ASAH1	ORPHA:333
HP:0001626	Abnormality of the cardiovascular system	84061	MAGT1	OMIM:300853
HP:0001626	Abnormality of the cardiovascular system	79415	CYBC1	OMIM:618935
HP:0001626	Abnormality of the cardiovascular system	285282	RABL3	ORPHA:1333
HP:0001626	Abnormality of the cardiovascular system	23022	PALLD	ORPHA:1333
HP:0001626	Abnormality of the cardiovascular system	5873	RAB27A	ORPHA:79477
HP:0001626	Abnormality of the cardiovascular system	970	CD70	OMIM:618261
HP:0001626	Abnormality of the cardiovascular system	3702	ITK	OMIM:613011
HP:0001626	Abnormality of the cardiovascular system	5580	PRKCD	OMIM:615559
HP:0001626	Abnormality of the cardiovascular system	100	ADA	ORPHA:39041
HP:0001626	Abnormality of the cardiovascular system	3561	IL2RG	ORPHA:39041
HP:0001626	Abnormality of the cardiovascular system	5294	PIK3CG	OMIM:619802
HP:0001626	Abnormality of the cardiovascular system	51371	POMP	OMIM:618048
HP:0001626	Abnormality of the cardiovascular system	8651	SOCS1	OMIM:619375
HP:0001626	Abnormality of the cardiovascular system	27040	LAT	OMIM:617514
HP:0001626	Abnormality of the cardiovascular system	8737	RIPK1	OMIM:618852
HP:0001626	Abnormality of the cardiovascular system	28985	MCTS1	OMIM:301115
HP:0001626	Abnormality of the cardiovascular system	5699	PSMB10	OMIM:620807
HP:0001626	Abnormality of the cardiovascular system	238	ALK	ORPHA:635
HP:0001626	Abnormality of the cardiovascular system	389421	LIN28B	ORPHA:635
HP:0001626	Abnormality of the cardiovascular system	4004	LMO1	ORPHA:635
HP:0001626	Abnormality of the cardiovascular system	57531	HACE1	ORPHA:635
HP:0001626	Abnormality of the cardiovascular system	83706	FERMT3	OMIM:612840
HP:0001626	Abnormality of the cardiovascular system	7535	ZAP70	ORPHA:911
HP:0001626	Abnormality of the cardiovascular system	5993	RFX5	OMIM:620816
HP:0001626	Abnormality of the cardiovascular system	3659	IRF1	OMIM:620668
HP:0001626	Abnormality of the cardiovascular system	7852	CXCR4	ORPHA:51636
HP:0001626	Abnormality of the cardiovascular system	5788	PTPRC	OMIM:619924
HP:0001626	Abnormality of the cardiovascular system	958	CD40	OMIM:606843
HP:0001626	Abnormality of the cardiovascular system	959	CD40LG	OMIM:308230
HP:0001626	Abnormality of the cardiovascular system	128989	TANGO2	ORPHA:480864
HP:0001626	Abnormality of the cardiovascular system	1825	DSC3	OMIM:613102
HP:0001626	Abnormality of the cardiovascular system	6309	SC5D	OMIM:607330
HP:0001626	Abnormality of the cardiovascular system	5538	PPT1	OMIM:256730
HP:0001626	Abnormality of the cardiovascular system	5654	HTRA1	ORPHA:199354
HP:0001626	Abnormality of the cardiovascular system	54982	CLN6	OMIM:204300
HP:0001626	Abnormality of the cardiovascular system	80331	DNAJC5	OMIM:162350
HP:0001626	Abnormality of the cardiovascular system	1509	CTSD	OMIM:610127
HP:0001626	Abnormality of the cardiovascular system	2055	CLN8	ORPHA:1947
HP:0001626	Abnormality of the cardiovascular system	4854	NOTCH3	OMIM:125310
HP:0001626	Abnormality of the cardiovascular system	60	ACTB	OMIM:620475
HP:0001626	Abnormality of the cardiovascular system	85440	DOCK7	OMIM:615859
HP:0001626	Abnormality of the cardiovascular system	10651	MTX2	OMIM:619127
HP:0001626	Abnormality of the cardiovascular system	2464	FRA16E	OMIM:136570
HP:0001626	Abnormality of the cardiovascular system	1024	CDK8	OMIM:618748
HP:0001626	Abnormality of the cardiovascular system	8405	SPOP	OMIM:618829
HP:0001626	Abnormality of the cardiovascular system	3021	H3-3B	OMIM:619721
HP:0001626	Abnormality of the cardiovascular system	55191	NADSYN1	OMIM:618845
HP:0001626	Abnormality of the cardiovascular system	168507	PKD1L1	OMIM:617205
HP:0001626	Abnormality of the cardiovascular system	220136	CFAP53	OMIM:614779
HP:0001626	Abnormality of the cardiovascular system	7299	TYR	ORPHA:895
HP:0001626	Abnormality of the cardiovascular system	6591	SNAI2	ORPHA:895
HP:0001626	Abnormality of the cardiovascular system	1910	EDNRB	ORPHA:895
HP:0001626	Abnormality of the cardiovascular system	4254	KITLG	ORPHA:895
HP:0001626	Abnormality of the cardiovascular system	145173	B3GLCT	ORPHA:709
HP:0001626	Abnormality of the cardiovascular system	5080	PAX6	ORPHA:1065
HP:0001626	Abnormality of the cardiovascular system	1272	CNTN1	OMIM:612540
HP:0001626	Abnormality of the cardiovascular system	64919	BCL11B	OMIM:617237
HP:0001626	Abnormality of the cardiovascular system	85459	CEP295	OMIM:620767
HP:0001626	Abnormality of the cardiovascular system	116519	APOA5	OMIM:145750
HP:0001626	Abnormality of the cardiovascular system	5740	PTGIS	OMIM:145500
HP:0001626	Abnormality of the cardiovascular system	1577	CYP3A5	OMIM:145500
HP:0001626	Abnormality of the cardiovascular system	2784	GNB3	OMIM:145500
HP:0001626	Abnormality of the cardiovascular system	481	ATP1B1	OMIM:145500
HP:0001626	Abnormality of the cardiovascular system	8490	RGS5	OMIM:145500
HP:0001626	Abnormality of the cardiovascular system	118	ADD1	OMIM:145500
HP:0001626	Abnormality of the cardiovascular system	29119	CTNNA3	OMIM:615616
HP:0001626	Abnormality of the cardiovascular system	3053	SERPIND1	OMIM:612356
HP:0001626	Abnormality of the cardiovascular system	3777	KCNK3	OMIM:615344
HP:0001626	Abnormality of the cardiovascular system	144811	LACC1	ORPHA:85414
HP:0001626	Abnormality of the cardiovascular system	4282	MIF	ORPHA:85414
HP:0001626	Abnormality of the cardiovascular system	410	ARSA	ORPHA:309271
HP:0001626	Abnormality of the cardiovascular system	3953	LEPR	ORPHA:179494
HP:0001626	Abnormality of the cardiovascular system	23317	DNAJC13	ORPHA:411602
HP:0001626	Abnormality of the cardiovascular system	1981	EIF4G1	ORPHA:411602
HP:0001626	Abnormality of the cardiovascular system	55737	VPS35	ORPHA:411602
HP:0001626	Abnormality of the cardiovascular system	120892	LRRK2	ORPHA:411602
HP:0001626	Abnormality of the cardiovascular system	26058	GIGYF2	ORPHA:411602
HP:0001626	Abnormality of the cardiovascular system	3952	LEP	ORPHA:66628
HP:0001626	Abnormality of the cardiovascular system	64840	PORCN	ORPHA:2092
HP:0001626	Abnormality of the cardiovascular system	2591	GALNT3	OMIM:211900
HP:0001626	Abnormality of the cardiovascular system	8772	FADD	OMIM:613759
HP:0001626	Abnormality of the cardiovascular system	8772	FADD	ORPHA:306550
HP:0001626	Abnormality of the cardiovascular system	118924	FRA10AC1	OMIM:620113
HP:0001626	Abnormality of the cardiovascular system	6874	TAF4	OMIM:620450
HP:0001626	Abnormality of the cardiovascular system	4796	TONSL	ORPHA:93357
HP:0001626	Abnormality of the cardiovascular system	10491	CRTAP	OMIM:610682
HP:0001626	Abnormality of the cardiovascular system	3977	LIFR	OMIM:601559
HP:0001626	Abnormality of the cardiovascular system	10157	AASS	ORPHA:2203
HP:0001626	Abnormality of the cardiovascular system	8854	ALDH1A2	OMIM:620025
HP:0001626	Abnormality of the cardiovascular system	463	ZFHX3	OMIM:613055
HP:0001626	Abnormality of the cardiovascular system	25792	CIZ1	ORPHA:420492
HP:0001626	Abnormality of the cardiovascular system	23345	SYNE1	ORPHA:98853
HP:0001626	Abnormality of the cardiovascular system	2972	BRF1	ORPHA:444072
HP:0001626	Abnormality of the cardiovascular system	80067	DCAF17	OMIM:241080
HP:0001626	Abnormality of the cardiovascular system	246243	RNASEH1	ORPHA:329336
HP:0001626	Abnormality of the cardiovascular system	1201	CLN3	OMIM:204200
HP:0001626	Abnormality of the cardiovascular system	54914	FOCAD	OMIM:619991
HP:0001626	Abnormality of the cardiovascular system	10585	POMT1	OMIM:613155
HP:0001626	Abnormality of the cardiovascular system	55593	OTUD5	OMIM:301056
HP:0001626	Abnormality of the cardiovascular system	6288	SAA1	ORPHA:85445
HP:0001626	Abnormality of the cardiovascular system	79147	FKRP	OMIM:607155
HP:0001626	Abnormality of the cardiovascular system	10524	KAT5	OMIM:619103
HP:0001626	Abnormality of the cardiovascular system	54892	NCAPG2	OMIM:618460
HP:0001626	Abnormality of the cardiovascular system	7125	TNNC2	OMIM:620161
HP:0001626	Abnormality of the cardiovascular system	6045	RNF2	OMIM:619460
HP:0001626	Abnormality of the cardiovascular system	96459	FNIP1	OMIM:619705
HP:0001626	Abnormality of the cardiovascular system	3198	HOXA1	OMIM:601536
HP:0001626	Abnormality of the cardiovascular system	64093	SMOC1	ORPHA:1106
HP:0001626	Abnormality of the cardiovascular system	128	ADH5	OMIM:619151
HP:0001626	Abnormality of the cardiovascular system	2137	EXTL3	ORPHA:508533
HP:0001626	Abnormality of the cardiovascular system	9653	HS2ST1	OMIM:619194
HP:0001626	Abnormality of the cardiovascular system	10484	SEC23A	ORPHA:50814
HP:0001626	Abnormality of the cardiovascular system	10484	SEC23A	OMIM:607812
HP:0001626	Abnormality of the cardiovascular system	1857	DVL3	ORPHA:3107
HP:0001626	Abnormality of the cardiovascular system	7474	WNT5A	ORPHA:3107
HP:0001626	Abnormality of the cardiovascular system	1855	DVL1	ORPHA:3107
HP:0001626	Abnormality of the cardiovascular system	3791	KDR	OMIM:602089
HP:0001626	Abnormality of the cardiovascular system	7473	WNT3	OMIM:273395
HP:0001626	Abnormality of the cardiovascular system	10568	SLC34A2	ORPHA:60025
HP:0001626	Abnormality of the cardiovascular system	4093	SMAD9	OMIM:615342
HP:0001626	Abnormality of the cardiovascular system	81704	DOCK8	OMIM:243700
HP:0001626	Abnormality of the cardiovascular system	10621	POLR3F	OMIM:619872
HP:0001626	Abnormality of the cardiovascular system	440275	EIF2AK4	OMIM:234810
HP:0001626	Abnormality of the cardiovascular system	440275	EIF2AK4	ORPHA:199241
HP:0001626	Abnormality of the cardiovascular system	826	CAPNS1	OMIM:620777
HP:0001626	Abnormality of the cardiovascular system	595	CCND1	OMIM:193300
HP:0001626	Abnormality of the cardiovascular system	100134444	KCNJ18	ORPHA:79102
HP:0001626	Abnormality of the cardiovascular system	2556	GABRA3	ORPHA:79102
HP:0001626	Abnormality of the cardiovascular system	26007	TKFC	OMIM:618805
HP:0001626	Abnormality of the cardiovascular system	55679	LIMS2	OMIM:616827
HP:0001626	Abnormality of the cardiovascular system	7169	TPM2	ORPHA:171881
HP:0001626	Abnormality of the cardiovascular system	7170	TPM3	ORPHA:171881
HP:0001626	Abnormality of the cardiovascular system	26092	TOR1AIP1	OMIM:617072
HP:0001626	Abnormality of the cardiovascular system	11198	SUPT16H	OMIM:619480
HP:0001626	Abnormality of the cardiovascular system	55997	CFC1	OMIM:605376
HP:0001626	Abnormality of the cardiovascular system	83871	RAB34	OMIM:620718
HP:0001626	Abnormality of the cardiovascular system	93	ACVR2B	OMIM:613751
HP:0001626	Abnormality of the cardiovascular system	23522	KAT6B	ORPHA:3047
HP:0001626	Abnormality of the cardiovascular system	5587	PRKD1	OMIM:617364
HP:0001626	Abnormality of the cardiovascular system	11193	WBP4	OMIM:620852
HP:0001626	Abnormality of the cardiovascular system	2321	FLT1	ORPHA:275555
HP:0001626	Abnormality of the cardiovascular system	219736	STOX1	ORPHA:275555
HP:0001626	Abnormality of the cardiovascular system	10699	CORIN	ORPHA:275555
HP:0001626	Abnormality of the cardiovascular system	11277	TREX1	ORPHA:247691
HP:0001626	Abnormality of the cardiovascular system	170302	ARX	ORPHA:94083
HP:0001626	Abnormality of the cardiovascular system	55275	VPS53	OMIM:615851
HP:0001626	Abnormality of the cardiovascular system	9675	TTI1	OMIM:620445
HP:0001626	Abnormality of the cardiovascular system	10526	IPO8	OMIM:619472
HP:0001626	Abnormality of the cardiovascular system	84342	COG8	OMIM:611182
HP:0001626	Abnormality of the cardiovascular system	84342	COG8	ORPHA:95428
HP:0001626	Abnormality of the cardiovascular system	5568	PRKACG	OMIM:616176
HP:0001626	Abnormality of the cardiovascular system	831	CAST	OMIM:616295
HP:0001626	Abnormality of the cardiovascular system	23545	ATP6V0A2	ORPHA:2834
HP:0001626	Abnormality of the cardiovascular system	23545	ATP6V0A2	ORPHA:357074
HP:0001626	Abnormality of the cardiovascular system	23554	TSPAN12	ORPHA:891
HP:0001626	Abnormality of the cardiovascular system	80169	CTC1	OMIM:612199
HP:0001626	Abnormality of the cardiovascular system	29072	SETD2	OMIM:620157
HP:0001626	Abnormality of the cardiovascular system	29072	SETD2	OMIM:620155
HP:0001626	Abnormality of the cardiovascular system	5111	PCNA	ORPHA:438134
HP:0001626	Abnormality of the cardiovascular system	726	CAPN5	OMIM:193235
HP:0001626	Abnormality of the cardiovascular system	1121	CHM	OMIM:303100
HP:0001626	Abnormality of the cardiovascular system	2677	GGCX	ORPHA:436274
HP:0001626	Abnormality of the cardiovascular system	167691	LCA5	ORPHA:364055
HP:0001626	Abnormality of the cardiovascular system	64801	ARV1	OMIM:617020
HP:0001626	Abnormality of the cardiovascular system	755	CFAP410	OMIM:617547
HP:0001626	Abnormality of the cardiovascular system	755	CFAP410	ORPHA:1872
HP:0001626	Abnormality of the cardiovascular system	22926	ATF6	ORPHA:1872
HP:0001626	Abnormality of the cardiovascular system	22926	ATF6	ORPHA:49382
HP:0001626	Abnormality of the cardiovascular system	64802	NMNAT1	ORPHA:1872
HP:0001626	Abnormality of the cardiovascular system	64802	NMNAT1	OMIM:608553
HP:0001626	Abnormality of the cardiovascular system	64802	NMNAT1	OMIM:619260
HP:0001626	Abnormality of the cardiovascular system	84839	RAX2	ORPHA:1872
HP:0001626	Abnormality of the cardiovascular system	84839	RAX2	OMIM:620102
HP:0001626	Abnormality of the cardiovascular system	1261	CNGA3	ORPHA:1872
HP:0001626	Abnormality of the cardiovascular system	1261	CNGA3	ORPHA:49382
HP:0001626	Abnormality of the cardiovascular system	5956	OPN1LW	ORPHA:1872
HP:0001626	Abnormality of the cardiovascular system	778	CACNA1F	ORPHA:1872
HP:0001626	Abnormality of the cardiovascular system	8754	ADAM9	ORPHA:1872
HP:0001626	Abnormality of the cardiovascular system	3000	GUCY2D	ORPHA:1872
HP:0001626	Abnormality of the cardiovascular system	3000	GUCY2D	OMIM:601777
HP:0001626	Abnormality of the cardiovascular system	3000	GUCY2D	OMIM:204000
HP:0001626	Abnormality of the cardiovascular system	22999	RIMS1	ORPHA:1872
HP:0001626	Abnormality of the cardiovascular system	128338	DRAM2	ORPHA:1872
HP:0001626	Abnormality of the cardiovascular system	2652	OPN1MW	ORPHA:1872
HP:0001626	Abnormality of the cardiovascular system	9094	UNC119	ORPHA:1872
HP:0001626	Abnormality of the cardiovascular system	9094	UNC119	OMIM:620342
HP:0001626	Abnormality of the cardiovascular system	93589	CACNA2D4	ORPHA:1872
HP:0001626	Abnormality of the cardiovascular system	2978	GUCA1A	ORPHA:1872
HP:0001626	Abnormality of the cardiovascular system	282809	POC1B	ORPHA:1872
HP:0001626	Abnormality of the cardiovascular system	83394	PITPNM3	ORPHA:1872
HP:0001626	Abnormality of the cardiovascular system	23093	TTLL5	ORPHA:1872
HP:0001626	Abnormality of the cardiovascular system	83723	TLCD3B	ORPHA:1872
HP:0001626	Abnormality of the cardiovascular system	83723	TLCD3B	OMIM:619531
HP:0001626	Abnormality of the cardiovascular system	23746	AIPL1	ORPHA:1872
HP:0001626	Abnormality of the cardiovascular system	23746	AIPL1	OMIM:604393
HP:0001626	Abnormality of the cardiovascular system	9364	RAB28	ORPHA:1872
HP:0001626	Abnormality of the cardiovascular system	85015	USP45	OMIM:618513
HP:0001626	Abnormality of the cardiovascular system	51109	RDH11	OMIM:616108
HP:0001626	Abnormality of the cardiovascular system	79140	CCDC28B	OMIM:209900
HP:0001626	Abnormality of the cardiovascular system	26504	CNNM4	OMIM:217080
HP:0001626	Abnormality of the cardiovascular system	2257	FGF12	OMIM:617166
HP:0001626	Abnormality of the cardiovascular system	28982	FLVCR1	OMIM:609033
HP:0001626	Abnormality of the cardiovascular system	3035	HARS1	OMIM:614504
HP:0001626	Abnormality of the cardiovascular system	25914	RTTN	ORPHA:468631
HP:0001626	Abnormality of the cardiovascular system	5959	RDH5	ORPHA:52427
HP:0001626	Abnormality of the cardiovascular system	3098	HK1	OMIM:617460
HP:0001626	Abnormality of the cardiovascular system	6742	SSBP1	OMIM:165510
HP:0001626	Abnormality of the cardiovascular system	5146	PDE6C	ORPHA:49382
HP:0001626	Abnormality of the cardiovascular system	5149	PDE6H	ORPHA:49382
HP:0001626	Abnormality of the cardiovascular system	2780	GNAT2	ORPHA:49382
HP:0001626	Abnormality of the cardiovascular system	54714	CNGB3	ORPHA:49382
HP:0001626	Abnormality of the cardiovascular system	112752	IFT43	OMIM:617871
HP:0001626	Abnormality of the cardiovascular system	9187	SLC24A1	OMIM:613830
HP:0001626	Abnormality of the cardiovascular system	6533	SLC6A6	OMIM:145350
HP:0001626	Abnormality of the cardiovascular system	23155	CLCC1	OMIM:609913
HP:0001626	Abnormality of the cardiovascular system	116150	NUS1	OMIM:617082
HP:0001626	Abnormality of the cardiovascular system	57728	WDR19	OMIM:614376
HP:0001626	Abnormality of the cardiovascular system	51095	TRNT1	OMIM:616959
HP:0001626	Abnormality of the cardiovascular system	6247	RS1	ORPHA:792
HP:0001626	Abnormality of the cardiovascular system	6247	RS1	OMIM:312700
HP:0001626	Abnormality of the cardiovascular system	57105	CYSLTR2	ORPHA:39044
HP:0001626	Abnormality of the cardiovascular system	4653	MYOC	OMIM:137750
HP:0001626	Abnormality of the cardiovascular system	3105	HLA-A	ORPHA:179
HP:0001626	Abnormality of the cardiovascular system	8322	FZD4	ORPHA:90050
HP:0001626	Abnormality of the cardiovascular system	92840	REEP6	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	6094	ROM1	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	6017	RLBP1	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	7401	CLRN1	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	24	ABCA4	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	130557	ZNF513	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	92211	CDHR1	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	23568	ARL2BP	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	6121	RPE65	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	6101	RP1	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	3419	IDH3A	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	4751	NEK2	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	346007	EYS	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	8100	IFT88	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	23020	SNRNP200	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	762	CA4	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	138050	HGSNAT	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	196	AHR	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	3614	IMPDH1	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	1406	CRX	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	5148	PDE6G	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	26121	PRPF31	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	4117	MAK	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	25794	FSCN2	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	375298	CERKL	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	3420	IDH3B	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	57670	KIAA1549	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	7275	TUB	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	24148	PRPF6	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	23418	CRB1	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	10461	MERTK	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	57709	SLC7A14	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	768206	PRCD	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	7399	USH2A	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	23370	ARHGEF18	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	5949	RBP3	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	6010	RHO	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	6100	RP9	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	10002	NR2E3	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	9227	LRAT	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	84140	FAM161A	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	55812	SPATA7	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	55624	POMGNT1	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	79797	ZNF408	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	5145	PDE6A	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	8842	PROM1	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	9128	PRPF4	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	145226	RDH12	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	50939	IMPG2	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	9742	IFT140	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	2979	GUCA1B	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	1259	CNGA1	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	1258	CNGB1	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	60509	AGBL5	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	5961	PRPH2	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	388939	PCARE	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	7439	BEST1	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	9785	DHX38	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	7287	TULP1	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	5995	RGR	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	9129	PRPF3	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	55975	KLHL7	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	3617	IMPG1	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	94137	RP1L1	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	5158	PDE6B	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	6102	RP2	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	55857	KIZ	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	64218	SEMA4A	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	4901	NRL	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	10594	PRPF8	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	6295	SAG	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	79947	DHDDS	ORPHA:791
HP:0001626	Abnormality of the cardiovascular system	64127	NOD2	ORPHA:90340
HP:0001626	Abnormality of the cardiovascular system	23474	ETHE1	OMIM:602473
HP:0001626	Abnormality of the cardiovascular system	22947	DUX4L1	ORPHA:269
HP:0001626	Abnormality of the cardiovascular system	1789	DNMT3B	ORPHA:269
HP:0001626	Abnormality of the cardiovascular system	2483	FRG1	ORPHA:269
HP:0001626	Abnormality of the cardiovascular system	23347	SMCHD1	ORPHA:269
HP:0001626	Abnormality of the cardiovascular system	100288687	DUX4	ORPHA:269
HP:0001626	Abnormality of the cardiovascular system	2776	GNAQ	ORPHA:3205
HP:0001626	Abnormality of the cardiovascular system	4773	NFATC2	OMIM:620232
HP:0001626	Abnormality of the cardiovascular system	54820	NDE1	ORPHA:2177
HP:0001626	Abnormality of the cardiovascular system	55553	SOX6	OMIM:618971
HP:0001626	Abnormality of the cardiovascular system	5250	SLC25A3	ORPHA:91130
HP:0001626	Abnormality of the cardiovascular system	2548	GAA	ORPHA:308552
HP:0001626	Abnormality of the cardiovascular system	158326	FREM1	OMIM:608980
HP:0001626	Abnormality of the cardiovascular system	729238	SFTPA2	ORPHA:2032
HP:0001626	Abnormality of the cardiovascular system	653509	SFTPA1	ORPHA:2032
HP:0001626	Abnormality of the cardiovascular system	727897	MUC5B	ORPHA:2032
HP:0001626	Abnormality of the cardiovascular system	10144	FAM13A	ORPHA:2032
HP:0001626	Abnormality of the cardiovascular system	23250	ATP11A	ORPHA:2032
HP:0001626	Abnormality of the cardiovascular system	91039	DPP9	ORPHA:2032
HP:0001626	Abnormality of the cardiovascular system	411	ARSB	OMIM:253200
HP:0001626	Abnormality of the cardiovascular system	204	AK2	ORPHA:33355
HP:0001626	Abnormality of the cardiovascular system	199857	ALG14	OMIM:619036
HP:0001626	Abnormality of the cardiovascular system	57216	VANGL2	ORPHA:563609
HP:0001626	Abnormality of the cardiovascular system	81788	NUAK2	ORPHA:563609
HP:0001626	Abnormality of the cardiovascular system	8643	PTCH2	ORPHA:377
HP:0001626	Abnormality of the cardiovascular system	3073	HEXA	OMIM:272800
HP:0001626	Abnormality of the cardiovascular system	1615	DARS1	OMIM:615281
HP:0001626	Abnormality of the cardiovascular system	2760	GM2A	ORPHA:309246
HP:0001626	Abnormality of the cardiovascular system	10730	YME1L1	OMIM:617302
HP:0001626	Abnormality of the cardiovascular system	1718	DHCR24	ORPHA:35107
HP:0001626	Abnormality of the cardiovascular system	4538	MT-ND4	ORPHA:550
HP:0001626	Abnormality of the cardiovascular system	4564	MT-TH	ORPHA:550
HP:0001626	Abnormality of the cardiovascular system	2235	FECH	OMIM:177000
HP:0001626	Abnormality of the cardiovascular system	2235	FECH	ORPHA:79278
HP:0001626	Abnormality of the cardiovascular system	3858	KRT10	OMIM:607602
HP:0001626	Abnormality of the cardiovascular system	3848	KRT1	OMIM:620148
HP:0001626	Abnormality of the cardiovascular system	3848	KRT1	ORPHA:530838
HP:0001626	Abnormality of the cardiovascular system	7518	XRCC4	ORPHA:99812
HP:0001626	Abnormality of the cardiovascular system	362	AQP5	ORPHA:2337
HP:0001626	Abnormality of the cardiovascular system	55630	SLC39A4	ORPHA:37
HP:0001626	Abnormality of the cardiovascular system	7051	TGM1	ORPHA:281127
HP:0001626	Abnormality of the cardiovascular system	9790	BMS1	ORPHA:1114
HP:0001626	Abnormality of the cardiovascular system	10054	UBA2	ORPHA:1114
HP:0001626	Abnormality of the cardiovascular system	3691	ITGB4	ORPHA:1114
HP:0001626	Abnormality of the cardiovascular system	162514	TRPV3	ORPHA:659
HP:0001626	Abnormality of the cardiovascular system	64065	PERP	ORPHA:659
HP:0001626	Abnormality of the cardiovascular system	7132	TNFRSF1A	ORPHA:32960
HP:0001626	Abnormality of the cardiovascular system	27032	ATP2C1	ORPHA:2841
HP:0001626	Abnormality of the cardiovascular system	27032	ATP2C1	OMIM:169600
HP:0001626	Abnormality of the cardiovascular system	6868	ADAM17	ORPHA:294023
HP:0001626	Abnormality of the cardiovascular system	1956	EGFR	ORPHA:294023
HP:0001626	Abnormality of the cardiovascular system	3849	KRT2	ORPHA:455
HP:0001626	Abnormality of the cardiovascular system	10320	IKZF1	ORPHA:36426
HP:0001626	Abnormality of the cardiovascular system	6335	SCN9A	ORPHA:90026
HP:0001626	Abnormality of the cardiovascular system	11280	SCN11A	ORPHA:90026
HP:0001626	Abnormality of the cardiovascular system	50814	NSDHL	OMIM:308050
HP:0001626	Abnormality of the cardiovascular system	5238	PGM3	OMIM:615816
HP:0001626	Abnormality of the cardiovascular system	80326	WNT10A	OMIM:257980
HP:0001626	Abnormality of the cardiovascular system	1349	COX7B	ORPHA:2556
HP:0001626	Abnormality of the cardiovascular system	3052	HCCS	ORPHA:2556
HP:0001626	Abnormality of the cardiovascular system	56984	PSMG2	OMIM:619183
HP:0001626	Abnormality of the cardiovascular system	1508	CTSB	ORPHA:50943
HP:0001626	Abnormality of the cardiovascular system	1508	CTSB	OMIM:148370
HP:0001626	Abnormality of the cardiovascular system	84818	IL17RC	ORPHA:1334
HP:0001626	Abnormality of the cardiovascular system	64581	CLEC7A	ORPHA:1334
HP:0001626	Abnormality of the cardiovascular system	23765	IL17RA	ORPHA:1334
HP:0001626	Abnormality of the cardiovascular system	10758	TRAF3IP2	ORPHA:1334
HP:0001626	Abnormality of the cardiovascular system	112744	IL17F	ORPHA:1334
HP:0001626	Abnormality of the cardiovascular system	2752	GLUL	OMIM:610015
HP:0001626	Abnormality of the cardiovascular system	9333	TGM5	OMIM:609796
HP:0001626	Abnormality of the cardiovascular system	9333	TGM5	ORPHA:263534
HP:0001626	Abnormality of the cardiovascular system	1174	AP1S1	OMIM:609313
HP:0001626	Abnormality of the cardiovascular system	4210	MEFV	OMIM:608068
HP:0001626	Abnormality of the cardiovascular system	4210	MEFV	ORPHA:342
HP:0001626	Abnormality of the cardiovascular system	4014	LORICRIN	ORPHA:316
HP:0001626	Abnormality of the cardiovascular system	3889	KRT83	ORPHA:316
HP:0001626	Abnormality of the cardiovascular system	59344	ALOXE3	OMIM:242100
HP:0001626	Abnormality of the cardiovascular system	59344	ALOXE3	OMIM:606545
HP:0001626	Abnormality of the cardiovascular system	242	ALOX12B	OMIM:242100
HP:0001626	Abnormality of the cardiovascular system	6820	SULT2B1	OMIM:617571
HP:0001626	Abnormality of the cardiovascular system	11012	KLK11	OMIM:620507
HP:0001626	Abnormality of the cardiovascular system	4035	LRP1	OMIM:604093
HP:0001626	Abnormality of the cardiovascular system	4035	LRP1	ORPHA:79100
HP:0001626	Abnormality of the cardiovascular system	3675	ITGA3	OMIM:614748
HP:0001626	Abnormality of the cardiovascular system	3248	HPGD	OMIM:259100
HP:0001626	Abnormality of the cardiovascular system	5184	PEPD	ORPHA:742
HP:0001626	Abnormality of the cardiovascular system	57152	SLURP1	ORPHA:87503
HP:0001626	Abnormality of the cardiovascular system	643418	LIPN	OMIM:613943
HP:0001626	Abnormality of the cardiovascular system	51163	DBR1	OMIM:620510
HP:0001626	Abnormality of the cardiovascular system	147409	DSG4	OMIM:607903
HP:0001626	Abnormality of the cardiovascular system	55739	NAXD	OMIM:618321
HP:0001626	Abnormality of the cardiovascular system	55612	FERMT1	ORPHA:2908
HP:0001626	Abnormality of the cardiovascular system	1475	CSTA	ORPHA:263534
HP:0001626	Abnormality of the cardiovascular system	4921	DDR2	OMIM:618175
HP:0001626	Abnormality of the cardiovascular system	667	DST	OMIM:614653
HP:0001626	Abnormality of the cardiovascular system	3852	KRT5	ORPHA:79396
HP:0001626	Abnormality of the cardiovascular system	3861	KRT14	ORPHA:79396
HP:0001626	Abnormality of the cardiovascular system	940	CD28	ORPHA:2584
HP:0001626	Abnormality of the cardiovascular system	7133	TNFRSF1B	ORPHA:2584
HP:0001626	Abnormality of the cardiovascular system	1027	CDKN1B	ORPHA:276152
HP:0001626	Abnormality of the cardiovascular system	6263	RYR3	OMIM:620310
HP:0001626	Abnormality of the cardiovascular system	348180	CTU2	OMIM:618142
HP:0001626	Abnormality of the cardiovascular system	51726	DNAJB11	ORPHA:730
HP:0001626	Abnormality of the cardiovascular system	23193	GANAB	ORPHA:730
HP:0001626	Abnormality of the cardiovascular system	5310	PKD1	ORPHA:730
HP:0001626	Abnormality of the cardiovascular system	5311	PKD2	ORPHA:730
HP:0001626	Abnormality of the cardiovascular system	29880	ALG5	ORPHA:730
HP:0001626	Abnormality of the cardiovascular system	80114	BICC1	ORPHA:730
HP:0001626	Abnormality of the cardiovascular system	2658	GDF2	ORPHA:774
HP:0001626	Abnormality of the cardiovascular system	94	ACVRL1	ORPHA:774
HP:0001626	Abnormality of the cardiovascular system	4089	SMAD4	ORPHA:774
HP:0001626	Abnormality of the cardiovascular system	2022	ENG	ORPHA:774
HP:0001626	Abnormality of the cardiovascular system	55315	SLC29A3	ORPHA:168569
HP:0001626	Abnormality of the cardiovascular system	4907	NT5E	ORPHA:289601
HP:0001626	Abnormality of the cardiovascular system	8314	BAP1	ORPHA:50251
HP:0001626	Abnormality of the cardiovascular system	3075	CFH	ORPHA:244242
HP:0001626	Abnormality of the cardiovascular system	3426	CFI	ORPHA:244242
HP:0001626	Abnormality of the cardiovascular system	4179	CD46	ORPHA:244242
HP:0001626	Abnormality of the cardiovascular system	101101692	HELLPAR	ORPHA:244242
HP:0001626	Abnormality of the cardiovascular system	3458	IFNG	ORPHA:805
HP:0001626	Abnormality of the cardiovascular system	554	AVPR2	ORPHA:223
HP:0001626	Abnormality of the cardiovascular system	359	AQP2	ORPHA:223
HP:0001626	Abnormality of the cardiovascular system	6809	STX3	ORPHA:2290
HP:0001626	Abnormality of the cardiovascular system	4645	MYO5B	ORPHA:2290
HP:0001626	Abnormality of the cardiovascular system	1497	CTNS	ORPHA:411634
HP:0001626	Abnormality of the cardiovascular system	219972	MPEG1	OMIM:619223
HP:0001626	Abnormality of the cardiovascular system	718	C3	OMIM:613779
HP:0001626	Abnormality of the cardiovascular system	3514	IGKC	ORPHA:183675
HP:0001626	Abnormality of the cardiovascular system	3501	IGHG2	ORPHA:183675
HP:0001626	Abnormality of the cardiovascular system	4644	MYO5A	OMIM:214450
HP:0001626	Abnormality of the cardiovascular system	11235	PDCD10	ORPHA:221061
HP:0001626	Abnormality of the cardiovascular system	83605	CCM2	ORPHA:221061
HP:0001626	Abnormality of the cardiovascular system	889	KRIT1	ORPHA:221061
HP:0001626	Abnormality of the cardiovascular system	4953	ODC1	ORPHA:544488
HP:0001626	Abnormality of the cardiovascular system	2050	EPHB4	ORPHA:137667
HP:0001626	Abnormality of the cardiovascular system	5921	RASA1	ORPHA:137667
HP:0001626	Abnormality of the cardiovascular system	175	AGA	ORPHA:93
HP:0001626	Abnormality of the cardiovascular system	4758	NEU1	ORPHA:812
HP:0001626	Abnormality of the cardiovascular system	51816	ADA2	ORPHA:820
HP:0001626	Abnormality of the cardiovascular system	2653	GCSH	OMIM:620423
HP:0001626	Abnormality of the cardiovascular system	10847	SRCAP	ORPHA:2044
HP:0001626	Abnormality of the cardiovascular system	10847	SRCAP	OMIM:136140
HP:0001626	Abnormality of the cardiovascular system	5700	PSMC1	OMIM:620071
HP:0001626	Abnormality of the cardiovascular system	23511	NUP188	OMIM:618804
HP:0001626	Abnormality of the cardiovascular system	51729	WBP11	OMIM:619227
HP:0001626	Abnormality of the cardiovascular system	374969	SVBP	OMIM:618569
HP:0001626	Abnormality of the cardiovascular system	57534	MIB1	OMIM:615092
HP:0001626	Abnormality of the cardiovascular system	135	ADORA2A	ORPHA:363549
HP:0001626	Abnormality of the cardiovascular system	4626	MYH8	OMIM:608837
HP:0001626	Abnormality of the cardiovascular system	1374	CPT1A	ORPHA:156
HP:0001626	Abnormality of the cardiovascular system	1374	CPT1A	OMIM:255120
HP:0001626	Abnormality of the cardiovascular system	8974	P4HA2	ORPHA:397
HP:0001626	Abnormality of the cardiovascular system	26235	FBXL4	OMIM:615471
HP:0001626	Abnormality of the cardiovascular system	7148	TNXB	ORPHA:230839
HP:0001626	Abnormality of the cardiovascular system	652	BMP4	ORPHA:828
HP:0001626	Abnormality of the cardiovascular system	23384	SPECC1L	ORPHA:1519
HP:0001626	Abnormality of the cardiovascular system	1161	ERCC8	OMIM:216400
HP:0001626	Abnormality of the cardiovascular system	30061	SLC40A1	OMIM:606069
HP:0001626	Abnormality of the cardiovascular system	3908	LAMA2	ORPHA:258
HP:0001626	Abnormality of the cardiovascular system	6926	TBX3	ORPHA:3138
HP:0001626	Abnormality of the cardiovascular system	6926	TBX3	OMIM:181450
HP:0001626	Abnormality of the cardiovascular system	7259	TSPYL1	ORPHA:168593
HP:0001626	Abnormality of the cardiovascular system	2273	FHL1	OMIM:300696
HP:0001626	Abnormality of the cardiovascular system	8929	PHOX2B	ORPHA:2151
HP:0001626	Abnormality of the cardiovascular system	4509	MT-ATP8	ORPHA:254913
HP:0001626	Abnormality of the cardiovascular system	514	ATP5F1E	ORPHA:254913
HP:0001626	Abnormality of the cardiovascular system	513	ATP5F1D	ORPHA:254913
HP:0001626	Abnormality of the cardiovascular system	4508	MT-ATP6	ORPHA:254913
HP:0001626	Abnormality of the cardiovascular system	4508	MT-ATP6	ORPHA:104
HP:0001626	Abnormality of the cardiovascular system	4508	MT-ATP6	OMIM:535000
HP:0001626	Abnormality of the cardiovascular system	84833	ATP5MK	ORPHA:254913
HP:0001626	Abnormality of the cardiovascular system	91647	ATPAF2	ORPHA:254913
HP:0001626	Abnormality of the cardiovascular system	222663	SCUBE3	OMIM:619184
HP:0001626	Abnormality of the cardiovascular system	7274	TTPA	ORPHA:96
HP:0001626	Abnormality of the cardiovascular system	2992	GYG1	ORPHA:263297
HP:0001626	Abnormality of the cardiovascular system	7156	TOP3A	OMIM:618098
HP:0001626	Abnormality of the cardiovascular system	11232	POLG2	OMIM:610131
HP:0001626	Abnormality of the cardiovascular system	11232	POLG2	ORPHA:254892
HP:0001626	Abnormality of the cardiovascular system	221496	LEMD2	OMIM:212500
HP:0001626	Abnormality of the cardiovascular system	788	SLC25A20	ORPHA:159
HP:0001626	Abnormality of the cardiovascular system	773	CACNA1A	ORPHA:2131
HP:0001626	Abnormality of the cardiovascular system	6507	SLC1A3	ORPHA:2131
HP:0001626	Abnormality of the cardiovascular system	477	ATP1A2	ORPHA:2131
HP:0001626	Abnormality of the cardiovascular system	478	ATP1A3	ORPHA:2131
HP:0001626	Abnormality of the cardiovascular system	5189	PEX1	ORPHA:3220
HP:0001626	Abnormality of the cardiovascular system	5189	PEX1	ORPHA:772
HP:0001626	Abnormality of the cardiovascular system	5190	PEX6	ORPHA:3220
HP:0001626	Abnormality of the cardiovascular system	5190	PEX6	ORPHA:772
HP:0001626	Abnormality of the cardiovascular system	4536	MT-ND2	ORPHA:104
HP:0001626	Abnormality of the cardiovascular system	4536	MT-ND2	OMIM:535000
HP:0001626	Abnormality of the cardiovascular system	4720	NDUFS2	ORPHA:104
HP:0001626	Abnormality of the cardiovascular system	4539	MT-ND4L	ORPHA:104
HP:0001626	Abnormality of the cardiovascular system	4539	MT-ND4L	OMIM:535000
HP:0001626	Abnormality of the cardiovascular system	92667	MGME1	ORPHA:352447
HP:0001626	Abnormality of the cardiovascular system	92667	MGME1	OMIM:615084
HP:0001626	Abnormality of the cardiovascular system	2934	GSN	ORPHA:85448
HP:0001626	Abnormality of the cardiovascular system	84033	OBSCN	ORPHA:99845
HP:0001626	Abnormality of the cardiovascular system	23175	LPIN1	ORPHA:99845
HP:0001626	Abnormality of the cardiovascular system	34	ACADM	ORPHA:42
HP:0001626	Abnormality of the cardiovascular system	51567	TDP2	OMIM:616949
HP:0001626	Abnormality of the cardiovascular system	226	ALDOA	ORPHA:57
HP:0001626	Abnormality of the cardiovascular system	26100	WIPI2	OMIM:618453
HP:0001626	Abnormality of the cardiovascular system	54332	GDAP1	ORPHA:99944
HP:0001626	Abnormality of the cardiovascular system	2879	GPX4	OMIM:250220
HP:0001626	Abnormality of the cardiovascular system	2879	GPX4	ORPHA:93317
HP:0001626	Abnormality of the cardiovascular system	435	ASL	ORPHA:23
HP:0001626	Abnormality of the cardiovascular system	291	SLC25A4	ORPHA:254892
HP:0001626	Abnormality of the cardiovascular system	5428	POLG	ORPHA:254892
HP:0001626	Abnormality of the cardiovascular system	56652	TWNK	ORPHA:254892
HP:0001626	Abnormality of the cardiovascular system	56652	TWNK	OMIM:609286
HP:0001626	Abnormality of the cardiovascular system	50484	RRM2B	ORPHA:254892
HP:0001626	Abnormality of the cardiovascular system	5095	PCCA	ORPHA:35
HP:0001626	Abnormality of the cardiovascular system	5096	PCCB	ORPHA:35
HP:0001626	Abnormality of the cardiovascular system	3712	IVD	ORPHA:33
HP:0001626	Abnormality of the cardiovascular system	23586	RIGI	OMIM:616298
HP:0001626	Abnormality of the cardiovascular system	267010	RNU12	OMIM:620208
HP:0001626	Abnormality of the cardiovascular system	6340	SCNN1G	ORPHA:171876
HP:0001626	Abnormality of the cardiovascular system	6340	SCNN1G	ORPHA:526
HP:0001626	Abnormality of the cardiovascular system	6338	SCNN1B	ORPHA:171876
HP:0001626	Abnormality of the cardiovascular system	6338	SCNN1B	ORPHA:526
HP:0001626	Abnormality of the cardiovascular system	1180	CLCN1	ORPHA:614
HP:0001626	Abnormality of the cardiovascular system	55670	PEX26	ORPHA:772
HP:0001626	Abnormality of the cardiovascular system	5824	PEX19	ORPHA:772
HP:0001626	Abnormality of the cardiovascular system	5828	PEX2	ORPHA:772
HP:0001626	Abnormality of the cardiovascular system	8504	PEX3	ORPHA:772
HP:0001626	Abnormality of the cardiovascular system	9409	PEX16	ORPHA:772
HP:0001626	Abnormality of the cardiovascular system	8799	PEX11B	ORPHA:772
HP:0001626	Abnormality of the cardiovascular system	5193	PEX12	ORPHA:772
HP:0001626	Abnormality of the cardiovascular system	5194	PEX13	ORPHA:772
HP:0001626	Abnormality of the cardiovascular system	5195	PEX14	ORPHA:772
HP:0001626	Abnormality of the cardiovascular system	5192	PEX10	ORPHA:772
HP:0001626	Abnormality of the cardiovascular system	1376	CPT2	OMIM:608836
HP:0001626	Abnormality of the cardiovascular system	1376	CPT2	ORPHA:228305
HP:0001626	Abnormality of the cardiovascular system	1376	CPT2	ORPHA:228308
HP:0001626	Abnormality of the cardiovascular system	37	ACADVL	ORPHA:26793
HP:0001626	Abnormality of the cardiovascular system	23224	SYNE2	OMIM:612999
HP:0001626	Abnormality of the cardiovascular system	22872	SEC31A	OMIM:618651
HP:0001626	Abnormality of the cardiovascular system	128869	PIGU	OMIM:618590
HP:0001626	Abnormality of the cardiovascular system	7386	UQCRFS1	OMIM:618775
HP:0001626	Abnormality of the cardiovascular system	220202	ATOH7	ORPHA:91495
HP:0001626	Abnormality of the cardiovascular system	5903	RANBP2	ORPHA:88619
HP:0001626	Abnormality of the cardiovascular system	10999	SLC27A4	OMIM:608649
HP:0001626	Abnormality of the cardiovascular system	9382	COG1	ORPHA:263508
HP:0001626	Abnormality of the cardiovascular system	6811	STX5	OMIM:620454
HP:0001626	Abnormality of the cardiovascular system	10525	HYOU1	OMIM:233600
HP:0001626	Abnormality of the cardiovascular system	7317	UBA1	OMIM:301054
HP:0001626	Abnormality of the cardiovascular system	79577	CDC73	ORPHA:143
HP:0001626	Abnormality of the cardiovascular system	79577	CDC73	ORPHA:99880
HP:0001626	Abnormality of the cardiovascular system	5518	PPP2R1A	ORPHA:457284
HP:0001626	Abnormality of the cardiovascular system	1581	CYP7A1	ORPHA:209902
HP:0001626	Abnormality of the cardiovascular system	4488	MSX2	ORPHA:60015
HP:0001626	Abnormality of the cardiovascular system	60529	ALX4	ORPHA:60015
HP:0001626	Abnormality of the cardiovascular system	55252	ASXL2	OMIM:617190
HP:0001626	Abnormality of the cardiovascular system	6134	RPL10	OMIM:300998
HP:0001626	Abnormality of the cardiovascular system	55768	NGLY1	OMIM:615273
HP:0001626	Abnormality of the cardiovascular system	8294	H4C9	OMIM:619951
HP:0001626	Abnormality of the cardiovascular system	1182	CLCN3	OMIM:619512
HP:0001626	Abnormality of the cardiovascular system	1182	CLCN3	OMIM:619517
HP:0001626	Abnormality of the cardiovascular system	6477	SIAH1	OMIM:619314
HP:0001626	Abnormality of the cardiovascular system	85365	ALG2	OMIM:607906
HP:0001626	Abnormality of the cardiovascular system	5361	PLXNA1	OMIM:619955
HP:0001626	Abnormality of the cardiovascular system	3020	H3-3A	OMIM:619720
HP:0001626	Abnormality of the cardiovascular system	7543	ZFX	OMIM:301118
HP:0001626	Abnormality of the cardiovascular system	51111	KMT5B	OMIM:617788
HP:0001626	Abnormality of the cardiovascular system	1641	DCX	ORPHA:2148
HP:0001626	Abnormality of the cardiovascular system	57688	ZSWIM6	OMIM:603671
HP:0001626	Abnormality of the cardiovascular system	4016	LOXL1	OMIM:177650
HP:0001626	Abnormality of the cardiovascular system	2202	EFEMP1	ORPHA:98977
HP:0001626	Abnormality of the cardiovascular system	1545	CYP1B1	ORPHA:98977
HP:0001626	Abnormality of the cardiovascular system	27235	COQ2	ORPHA:227510
HP:0001626	Abnormality of the cardiovascular system	27235	COQ2	ORPHA:98933
HP:0001626	Abnormality of the cardiovascular system	8318	CDC45	OMIM:617063
HP:0001626	Abnormality of the cardiovascular system	1660	DHX9	OMIM:620988
HP:0001626	Abnormality of the cardiovascular system	1282	COL4A1	ORPHA:73229
HP:0001626	Abnormality of the cardiovascular system	54487	DGCR8	OMIM:192430
HP:0001626	Abnormality of the cardiovascular system	8214	DGCR6	OMIM:192430
HP:0001626	Abnormality of the cardiovascular system	8220	ESS2	OMIM:192430
HP:0001626	Abnormality of the cardiovascular system	9993	DGCR2	OMIM:192430
HP:0001626	Abnormality of the cardiovascular system	85465	SELENOI	OMIM:618768
HP:0001626	Abnormality of the cardiovascular system	1063	CENPF	OMIM:243605
HP:0001626	Abnormality of the cardiovascular system	3913	LAMB2	OMIM:609049
HP:0001626	Abnormality of the cardiovascular system	92949	ADAMTSL1	ORPHA:521445
HP:0001626	Abnormality of the cardiovascular system	567	B2M	ORPHA:314652
HP:0001626	Abnormality of the cardiovascular system	6445	SGCG	ORPHA:353
HP:0001626	Abnormality of the cardiovascular system	10848	PPP1R13L	OMIM:620519
HP:0001626	Abnormality of the cardiovascular system	29954	POMT2	OMIM:613156
HP:0001626	Abnormality of the cardiovascular system	29954	POMT2	ORPHA:206559
HP:0001626	Abnormality of the cardiovascular system	10625	IVNS1ABP	OMIM:618969
HP:0001626	Abnormality of the cardiovascular system	3932	LCK	OMIM:615758
HP:0001626	Abnormality of the cardiovascular system	5335	PLCG1	OMIM:620514
HP:0001626	Abnormality of the cardiovascular system	5965	RECQL	OMIM:620370
HP:0001626	Abnormality of the cardiovascular system	7045	TGFBI	ORPHA:98964
HP:0001626	Abnormality of the cardiovascular system	2703	GJA8	OMIM:612474
HP:0001626	Abnormality of the cardiovascular system	83872	HMCN1	OMIM:603075
HP:0001626	Abnormality of the cardiovascular system	286204	CRB2	OMIM:219730
HP:0001626	Abnormality of the cardiovascular system	29969	MDFIC	OMIM:620014
HP:0001626	Abnormality of the cardiovascular system	23395	LARS2	OMIM:617021
HP:0001626	Abnormality of the cardiovascular system	6007	RHD	OMIM:619462
HP:0001626	Abnormality of the cardiovascular system	2492	FSHR	ORPHA:64739
HP:0001626	Abnormality of the cardiovascular system	171019	ADAMTS19	OMIM:620067
HP:0001626	Abnormality of the cardiovascular system	10283	CWC27	ORPHA:166035
HP:0001626	Abnormality of the cardiovascular system	5932	RBBP8	OMIM:606744
HP:0001626	Abnormality of the cardiovascular system	29998	BICRA	OMIM:619325
HP:0001626	Abnormality of the cardiovascular system	4091	SMAD6	ORPHA:402075
HP:0001626	Abnormality of the cardiovascular system	9896	FIG4	OMIM:216340
HP:0001626	Abnormality of the cardiovascular system	1656	DDX6	OMIM:618653
HP:0001626	Abnormality of the cardiovascular system	23152	CIC	OMIM:617600
HP:0001626	Abnormality of the cardiovascular system	4233	MET	ORPHA:33402
HP:0001626	Abnormality of the cardiovascular system	462	SERPINC1	ORPHA:82
HP:0001626	Abnormality of the cardiovascular system	6521	SLC4A1	ORPHA:3202
HP:0001626	Abnormality of the cardiovascular system	9780	PIEZO1	ORPHA:3202
HP:0001626	Abnormality of the cardiovascular system	3783	KCNN4	ORPHA:3202
HP:0001626	Abnormality of the cardiovascular system	2615	LRRC32	OMIM:619074
HP:0001626	Abnormality of the cardiovascular system	7337	UBE3A	ORPHA:238446
HP:0001626	Abnormality of the cardiovascular system	23394	ADNP	ORPHA:404448
HP:0001626	Abnormality of the cardiovascular system	23394	ADNP	OMIM:615873
HP:0001626	Abnormality of the cardiovascular system	341640	FREM2	ORPHA:2052
HP:0001626	Abnormality of the cardiovascular system	80144	FRAS1	ORPHA:2052
HP:0001626	Abnormality of the cardiovascular system	23426	GRIP1	ORPHA:2052
HP:0001626	Abnormality of the cardiovascular system	6910	TBX5	ORPHA:392
HP:0001626	Abnormality of the cardiovascular system	1139	CHRNA7	ORPHA:199318
HP:0001626	Abnormality of the cardiovascular system	1139	CHRNA7	OMIM:612001
HP:0001626	Abnormality of the cardiovascular system	84282	RNF135	ORPHA:137634
HP:0001626	Abnormality of the cardiovascular system	4625	MYH7	ORPHA:1880
HP:0001626	Abnormality of the cardiovascular system	8195	MKKS	OMIM:236700
HP:0001626	Abnormality of the cardiovascular system	5830	PEX5	OMIM:214110
HP:0001626	Abnormality of the cardiovascular system	81839	VANGL1	ORPHA:3027
HP:0001626	Abnormality of the cardiovascular system	80199	FUZ	ORPHA:3027
HP:0001626	Abnormality of the cardiovascular system	6662	SOX9	ORPHA:140
HP:0001626	Abnormality of the cardiovascular system	6662	SOX9	ORPHA:251510
HP:0001626	Abnormality of the cardiovascular system	55112	DYNC2I1	ORPHA:93271
HP:0001626	Abnormality of the cardiovascular system	57560	IFT80	ORPHA:93271
HP:0001626	Abnormality of the cardiovascular system	57539	WDR35	ORPHA:93271
HP:0001626	Abnormality of the cardiovascular system	79659	DYNC2H1	ORPHA:93271
HP:0001626	Abnormality of the cardiovascular system	89891	DYNC2I2	ORPHA:93271
HP:0001626	Abnormality of the cardiovascular system	374654	KIF7	OMIM:200990
HP:0001626	Abnormality of the cardiovascular system	374654	KIF7	ORPHA:2189
HP:0001626	Abnormality of the cardiovascular system	57222	ERGIC1	OMIM:208100
HP:0001626	Abnormality of the cardiovascular system	2175	FANCA	OMIM:227650
HP:0001626	Abnormality of the cardiovascular system	23322	RPGRIP1L	ORPHA:220497
HP:0001626	Abnormality of the cardiovascular system	23322	RPGRIP1L	ORPHA:564
HP:0001626	Abnormality of the cardiovascular system	4867	NPHP1	ORPHA:220497
HP:0001626	Abnormality of the cardiovascular system	65062	TMEM237	ORPHA:220497
HP:0001626	Abnormality of the cardiovascular system	65062	TMEM237	ORPHA:475
HP:0001626	Abnormality of the cardiovascular system	65062	TMEM237	ORPHA:2318
HP:0001626	Abnormality of the cardiovascular system	65062	TMEM237	ORPHA:564
HP:0001626	Abnormality of the cardiovascular system	72	ACTG2	ORPHA:2604
HP:0001626	Abnormality of the cardiovascular system	72	ACTG2	ORPHA:2241
HP:0001626	Abnormality of the cardiovascular system	54806	AHI1	ORPHA:220493
HP:0001626	Abnormality of the cardiovascular system	54806	AHI1	ORPHA:475
HP:0001626	Abnormality of the cardiovascular system	56623	INPP5E	ORPHA:220493
HP:0001626	Abnormality of the cardiovascular system	56623	INPP5E	ORPHA:475
HP:0001626	Abnormality of the cardiovascular system	153241	CEP120	ORPHA:220493
HP:0001626	Abnormality of the cardiovascular system	153241	CEP120	ORPHA:475
HP:0001626	Abnormality of the cardiovascular system	54903	MKS1	ORPHA:220493
HP:0001626	Abnormality of the cardiovascular system	54903	MKS1	ORPHA:475
HP:0001626	Abnormality of the cardiovascular system	54903	MKS1	ORPHA:564
HP:0001626	Abnormality of the cardiovascular system	95681	CEP41	ORPHA:220493
HP:0001626	Abnormality of the cardiovascular system	95681	CEP41	ORPHA:475
HP:0001626	Abnormality of the cardiovascular system	2314	FLII	ORPHA:819
HP:0001626	Abnormality of the cardiovascular system	23096	IQSEC2	ORPHA:819
HP:0001626	Abnormality of the cardiovascular system	10743	RAI1	ORPHA:819
HP:0001626	Abnormality of the cardiovascular system	10743	RAI1	ORPHA:1713
HP:0001626	Abnormality of the cardiovascular system	10743	RAI1	OMIM:182290
HP:0001626	Abnormality of the cardiovascular system	10522	DEAF1	ORPHA:819
HP:0001626	Abnormality of the cardiovascular system	2132	EXT2	ORPHA:466926
HP:0001626	Abnormality of the cardiovascular system	1717	DHCR7	ORPHA:818
HP:0001626	Abnormality of the cardiovascular system	55636	CHD7	ORPHA:138
HP:0001626	Abnormality of the cardiovascular system	55636	CHD7	ORPHA:478
HP:0001626	Abnormality of the cardiovascular system	9723	SEMA3E	ORPHA:138
HP:0001626	Abnormality of the cardiovascular system	1185	CLCN6	OMIM:619173
HP:0001626	Abnormality of the cardiovascular system	2260	FGFR1	ORPHA:280200
HP:0001626	Abnormality of the cardiovascular system	2260	FGFR1	ORPHA:478
HP:0001626	Abnormality of the cardiovascular system	2260	FGFR1	OMIM:147950
HP:0001626	Abnormality of the cardiovascular system	2260	FGFR1	ORPHA:3157
HP:0001626	Abnormality of the cardiovascular system	28514	DLL1	ORPHA:280200
HP:0001626	Abnormality of the cardiovascular system	2253	FGF8	ORPHA:280200
HP:0001626	Abnormality of the cardiovascular system	2253	FGF8	ORPHA:478
HP:0001626	Abnormality of the cardiovascular system	6496	SIX3	ORPHA:280200
HP:0001626	Abnormality of the cardiovascular system	7050	TGIF1	ORPHA:280200
HP:0001626	Abnormality of the cardiovascular system	4838	NODAL	ORPHA:280200
HP:0001626	Abnormality of the cardiovascular system	6469	SHH	ORPHA:280200
HP:0001626	Abnormality of the cardiovascular system	51684	SUFU	ORPHA:280200
HP:0001626	Abnormality of the cardiovascular system	51684	SUFU	ORPHA:475
HP:0001626	Abnormality of the cardiovascular system	7546	ZIC2	ORPHA:280200
HP:0001626	Abnormality of the cardiovascular system	2619	GAS1	ORPHA:280200
HP:0001626	Abnormality of the cardiovascular system	84976	DISP1	ORPHA:280200
HP:0001626	Abnormality of the cardiovascular system	2736	GLI2	ORPHA:280200
HP:0001626	Abnormality of the cardiovascular system	8928	FOXH1	ORPHA:280200
HP:0001626	Abnormality of the cardiovascular system	6997	CRIPTO	ORPHA:280200
HP:0001626	Abnormality of the cardiovascular system	5727	PTCH1	ORPHA:280200
HP:0001626	Abnormality of the cardiovascular system	50937	CDON	ORPHA:280200
HP:0001626	Abnormality of the cardiovascular system	2263	FGFR2	ORPHA:87
HP:0001626	Abnormality of the cardiovascular system	2263	FGFR2	OMIM:101400
HP:0001626	Abnormality of the cardiovascular system	2263	FGFR2	ORPHA:794
HP:0001626	Abnormality of the cardiovascular system	3423	IDS	ORPHA:217085
HP:0001626	Abnormality of the cardiovascular system	3423	IDS	ORPHA:217093
HP:0001626	Abnormality of the cardiovascular system	6598	SMARCB1	OMIM:614608
HP:0001626	Abnormality of the cardiovascular system	2697	GJA1	ORPHA:2710
HP:0001626	Abnormality of the cardiovascular system	2697	GJA1	ORPHA:317
HP:0001626	Abnormality of the cardiovascular system	2626	GATA4	ORPHA:251071
HP:0001626	Abnormality of the cardiovascular system	2626	GATA4	ORPHA:251510
HP:0001626	Abnormality of the cardiovascular system	5566	PRKACA	ORPHA:289
HP:0001626	Abnormality of the cardiovascular system	5567	PRKACB	ORPHA:289
HP:0001626	Abnormality of the cardiovascular system	2735	GLI1	ORPHA:289
HP:0001626	Abnormality of the cardiovascular system	2121	EVC	ORPHA:289
HP:0001626	Abnormality of the cardiovascular system	51626	DYNC2LI1	ORPHA:289
HP:0001626	Abnormality of the cardiovascular system	132884	EVC2	ORPHA:289
HP:0001626	Abnormality of the cardiovascular system	9401	RECQL4	OMIM:218600
HP:0001626	Abnormality of the cardiovascular system	1281	COL3A1	ORPHA:286
HP:0001626	Abnormality of the cardiovascular system	10815	CPLX1	ORPHA:280
HP:0001626	Abnormality of the cardiovascular system	10815	CPLX1	OMIM:194190
HP:0001626	Abnormality of the cardiovascular system	54872	PIGG	ORPHA:280
HP:0001626	Abnormality of the cardiovascular system	7469	NELFA	ORPHA:280
HP:0001626	Abnormality of the cardiovascular system	1487	CTBP1	ORPHA:280
HP:0001626	Abnormality of the cardiovascular system	1487	CTBP1	OMIM:194190
HP:0001626	Abnormality of the cardiovascular system	3954	LETM1	ORPHA:280
HP:0001626	Abnormality of the cardiovascular system	3954	LETM1	OMIM:194190
HP:0001626	Abnormality of the cardiovascular system	7468	NSD2	ORPHA:280
HP:0001626	Abnormality of the cardiovascular system	7468	NSD2	OMIM:194190
HP:0001626	Abnormality of the cardiovascular system	9184	BUB3	ORPHA:1052
HP:0001626	Abnormality of the cardiovascular system	699	BUB1	ORPHA:1052
HP:0001626	Abnormality of the cardiovascular system	9702	CEP57	ORPHA:1052
HP:0001626	Abnormality of the cardiovascular system	9319	TRIP13	ORPHA:1052
HP:0001626	Abnormality of the cardiovascular system	701	BUB1B	ORPHA:1052
HP:0001626	Abnormality of the cardiovascular system	23414	ZFPM2	ORPHA:2140
HP:0001626	Abnormality of the cardiovascular system	23414	ZFPM2	ORPHA:251510
HP:0001626	Abnormality of the cardiovascular system	9361	LONP1	ORPHA:2140
HP:0001626	Abnormality of the cardiovascular system	2627	GATA6	ORPHA:2140
HP:0001626	Abnormality of the cardiovascular system	1501	CTNND2	ORPHA:281
HP:0001626	Abnormality of the cardiovascular system	9037	SEMA5A	ORPHA:281
HP:0001626	Abnormality of the cardiovascular system	7291	TWIST1	OMIM:101400
HP:0001626	Abnormality of the cardiovascular system	7291	TWIST1	ORPHA:794
HP:0001626	Abnormality of the cardiovascular system	6845	VAMP7	ORPHA:251510
HP:0001626	Abnormality of the cardiovascular system	51741	WWOX	ORPHA:251510
HP:0001626	Abnormality of the cardiovascular system	4214	MAP3K1	ORPHA:251510
HP:0001626	Abnormality of the cardiovascular system	2516	NR5A1	ORPHA:251510
HP:0001626	Abnormality of the cardiovascular system	7490	WT1	ORPHA:251510
HP:0001626	Abnormality of the cardiovascular system	57647	DHX37	ORPHA:251510
HP:0001626	Abnormality of the cardiovascular system	6736	SRY	ORPHA:251510
HP:0001626	Abnormality of the cardiovascular system	6736	SRY	ORPHA:1772
HP:0001626	Abnormality of the cardiovascular system	190	NR0B1	ORPHA:251510
HP:0001626	Abnormality of the cardiovascular system	526	ATP6V1B2	ORPHA:3473
HP:0001626	Abnormality of the cardiovascular system	526	ATP6V1B2	ORPHA:79500
HP:0001626	Abnormality of the cardiovascular system	3756	KCNH1	ORPHA:3473
HP:0001626	Abnormality of the cardiovascular system	3782	KCNN3	ORPHA:3473
HP:0001626	Abnormality of the cardiovascular system	53834	FGFRL1	OMIM:194190
HP:0001626	Abnormality of the cardiovascular system	4853	NOTCH2	ORPHA:955
HP:0001626	Abnormality of the cardiovascular system	6197	RPS6KA3	ORPHA:276630
HP:0001626	Abnormality of the cardiovascular system	57167	SALL4	ORPHA:233
HP:0001626	Abnormality of the cardiovascular system	9935	MAFB	ORPHA:233
HP:0001626	Abnormality of the cardiovascular system	1123	CHN1	ORPHA:233
HP:0001626	Abnormality of the cardiovascular system	9851	KIAA0753	ORPHA:475
HP:0001626	Abnormality of the cardiovascular system	5147	PDE6D	ORPHA:475
HP:0001626	Abnormality of the cardiovascular system	79600	TCTN1	ORPHA:475
HP:0001626	Abnormality of the cardiovascular system	79600	TCTN1	ORPHA:564
HP:0001626	Abnormality of the cardiovascular system	79848	CSPP1	ORPHA:475
HP:0001626	Abnormality of the cardiovascular system	79848	CSPP1	ORPHA:564
HP:0001626	Abnormality of the cardiovascular system	8481	OFD1	ORPHA:475
HP:0001626	Abnormality of the cardiovascular system	8481	OFD1	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	65250	CPLANE1	ORPHA:475
HP:0001626	Abnormality of the cardiovascular system	91147	TMEM67	ORPHA:475
HP:0001626	Abnormality of the cardiovascular system	91147	TMEM67	ORPHA:564
HP:0001626	Abnormality of the cardiovascular system	200894	ARL13B	ORPHA:475
HP:0001626	Abnormality of the cardiovascular system	9731	CEP104	ORPHA:475
HP:0001626	Abnormality of the cardiovascular system	219844	HYLS1	ORPHA:475
HP:0001626	Abnormality of the cardiovascular system	219844	HYLS1	ORPHA:2189
HP:0001626	Abnormality of the cardiovascular system	23247	KATNIP	ORPHA:475
HP:0001626	Abnormality of the cardiovascular system	219854	TMEM218	ORPHA:475
HP:0001626	Abnormality of the cardiovascular system	9786	KIAA0586	ORPHA:475
HP:0001626	Abnormality of the cardiovascular system	26123	TCTN3	ORPHA:475
HP:0001626	Abnormality of the cardiovascular system	26123	TCTN3	ORPHA:564
HP:0001626	Abnormality of the cardiovascular system	26123	TCTN3	ORPHA:2753
HP:0001626	Abnormality of the cardiovascular system	79867	TCTN2	ORPHA:475
HP:0001626	Abnormality of the cardiovascular system	79867	TCTN2	ORPHA:564
HP:0001626	Abnormality of the cardiovascular system	80776	B9D2	ORPHA:475
HP:0001626	Abnormality of the cardiovascular system	80776	B9D2	ORPHA:564
HP:0001626	Abnormality of the cardiovascular system	10464	PIBF1	ORPHA:475
HP:0001626	Abnormality of the cardiovascular system	80210	ARMC9	ORPHA:475
HP:0001626	Abnormality of the cardiovascular system	23116	TOGARAM1	ORPHA:475
HP:0001626	Abnormality of the cardiovascular system	25776	CBY1	ORPHA:475
HP:0001626	Abnormality of the cardiovascular system	27077	B9D1	ORPHA:475
HP:0001626	Abnormality of the cardiovascular system	27077	B9D1	ORPHA:564
HP:0001626	Abnormality of the cardiovascular system	403	ARL3	ORPHA:475
HP:0001626	Abnormality of the cardiovascular system	80173	IFT74	ORPHA:475
HP:0001626	Abnormality of the cardiovascular system	3981	LIG4	ORPHA:235
HP:0001626	Abnormality of the cardiovascular system	54888	NSUN2	ORPHA:235
HP:0001626	Abnormality of the cardiovascular system	392255	GDF6	OMIM:118100
HP:0001626	Abnormality of the cardiovascular system	392255	GDF6	ORPHA:2345
HP:0001626	Abnormality of the cardiovascular system	10908	PNPLA6	ORPHA:2377
HP:0001626	Abnormality of the cardiovascular system	5979	RET	ORPHA:1848
HP:0001626	Abnormality of the cardiovascular system	8516	ITGA8	ORPHA:1848
HP:0001626	Abnormality of the cardiovascular system	26281	FGF20	ORPHA:1848
HP:0001626	Abnormality of the cardiovascular system	2674	GFRA1	ORPHA:1848
HP:0001626	Abnormality of the cardiovascular system	7484	WNT9B	ORPHA:1848
HP:0001626	Abnormality of the cardiovascular system	80000	GREB1L	ORPHA:1848
HP:0001626	Abnormality of the cardiovascular system	5590	PRKCZ	ORPHA:1606
HP:0001626	Abnormality of the cardiovascular system	2563	GABRD	ORPHA:1606
HP:0001626	Abnormality of the cardiovascular system	23013	SPEN	ORPHA:1606
HP:0001626	Abnormality of the cardiovascular system	8510	MMP23B	ORPHA:1606
HP:0001626	Abnormality of the cardiovascular system	7798	LUZP1	ORPHA:1606
HP:0001626	Abnormality of the cardiovascular system	6497	SKI	ORPHA:1606
HP:0001626	Abnormality of the cardiovascular system	10630	PDPN	ORPHA:1606
HP:0001626	Abnormality of the cardiovascular system	3339	HSPG2	ORPHA:1606
HP:0001626	Abnormality of the cardiovascular system	10277	UBE4B	ORPHA:1606
HP:0001626	Abnormality of the cardiovascular system	8514	KCNAB2	ORPHA:1606
HP:0001626	Abnormality of the cardiovascular system	473	RERE	ORPHA:1606
HP:0001626	Abnormality of the cardiovascular system	63976	PRDM16	ORPHA:1606
HP:0001626	Abnormality of the cardiovascular system	54897	CASZ1	ORPHA:1606
HP:0001626	Abnormality of the cardiovascular system	157570	ESCO2	ORPHA:3103
HP:0001626	Abnormality of the cardiovascular system	7547	ZIC3	OMIM:314390
HP:0001626	Abnormality of the cardiovascular system	2187	FANCB	OMIM:314390
HP:0001626	Abnormality of the cardiovascular system	2187	FANCB	ORPHA:3412
HP:0001626	Abnormality of the cardiovascular system	4094	MAF	ORPHA:1272
HP:0001626	Abnormality of the cardiovascular system	10436	EMG1	ORPHA:1270
HP:0001626	Abnormality of the cardiovascular system	25802	LMOD1	ORPHA:2241
HP:0001626	Abnormality of the cardiovascular system	4629	MYH11	ORPHA:2241
HP:0001626	Abnormality of the cardiovascular system	4638	MYLK	ORPHA:2241
HP:0001626	Abnormality of the cardiovascular system	57492	ARID1B	ORPHA:251056
HP:0001626	Abnormality of the cardiovascular system	1749	DLX5	OMIM:183600
HP:0001626	Abnormality of the cardiovascular system	10984	KCNQ1OT1	ORPHA:2128
HP:0001626	Abnormality of the cardiovascular system	283120	H19	ORPHA:2128
HP:0001626	Abnormality of the cardiovascular system	2239	GPC4	ORPHA:373
HP:0001626	Abnormality of the cardiovascular system	2239	GPC4	ORPHA:2662
HP:0001626	Abnormality of the cardiovascular system	2719	GPC3	ORPHA:373
HP:0001626	Abnormality of the cardiovascular system	64220	STRA6	ORPHA:2470
HP:0001626	Abnormality of the cardiovascular system	7477	WNT7B	ORPHA:2470
HP:0001626	Abnormality of the cardiovascular system	5915	RARB	ORPHA:2470
HP:0001626	Abnormality of the cardiovascular system	170691	ADAMTS17	ORPHA:3449
HP:0001626	Abnormality of the cardiovascular system	4053	LTBP2	ORPHA:3449
HP:0001626	Abnormality of the cardiovascular system	81794	ADAMTS10	ORPHA:3449
HP:0001626	Abnormality of the cardiovascular system	23483	TGDS	ORPHA:1388
HP:0001626	Abnormality of the cardiovascular system	4052	LTBP1	ORPHA:90349
HP:0001626	Abnormality of the cardiovascular system	30008	EFEMP2	ORPHA:90349
HP:0001626	Abnormality of the cardiovascular system	10516	FBLN5	ORPHA:90349
HP:0001626	Abnormality of the cardiovascular system	1836	SLC26A2	ORPHA:93298
HP:0001626	Abnormality of the cardiovascular system	9321	TRIP11	ORPHA:93299
HP:0001626	Abnormality of the cardiovascular system	2303	FOXC2	ORPHA:33001
HP:0001626	Abnormality of the cardiovascular system	10195	ALG3	ORPHA:79321
HP:0001626	Abnormality of the cardiovascular system	64324	NSD1	ORPHA:3447
HP:0001626	Abnormality of the cardiovascular system	23512	SUZ12	ORPHA:3447
HP:0001626	Abnormality of the cardiovascular system	2146	EZH2	ORPHA:3447
HP:0001626	Abnormality of the cardiovascular system	25981	DNAH1	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	115948	ODAD3	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	54768	HYDIN	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	352909	DNAAF3	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	27148	STK36	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	51314	NME8	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	92749	DRC1	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	54970	TTC12	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	152110	NEK10	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	2302	FOXJ1	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	221421	RSPH9	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	85478	CCDC65	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	55036	CCDC40	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	51364	ZMYND10	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	64446	DNAI2	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	8382	NME5	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	6674	SPAG1	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	83544	DNAL1	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	89765	RSPH1	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	83538	ODAD4	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	200373	CFAP221	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	374407	DNAJB13	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	55172	DNAAF2	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	161582	DNAAF4	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	2622	GAS8	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	23639	DNAAF11	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	27019	DNAI1	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	345895	RSPH4A	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	54919	DNAAF5	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	6103	RPGR	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	85452	CFAP74	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	93233	ODAD1	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	55130	ODAD2	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	1767	DNAH5	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	83861	RSPH3	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	345643	MCIDAS	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	56683	CFAP298	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	79925	SPEF2	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	10309	CCNO	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	115399	LRRC56	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	139212	DNAAF6	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	123872	DNAAF1	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	85016	CFAP300	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	339829	CCDC39	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	8701	DNAH11	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	1770	DNAH9	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	246176	GAS2L2	ORPHA:244
HP:0001626	Abnormality of the cardiovascular system	1723	DHODH	ORPHA:246
HP:0001626	Abnormality of the cardiovascular system	10262	SF3B4	ORPHA:245
HP:0001626	Abnormality of the cardiovascular system	10262	SF3B4	ORPHA:1788
HP:0001626	Abnormality of the cardiovascular system	9573	GDF3	ORPHA:2345
HP:0001626	Abnormality of the cardiovascular system	4222	MEOX1	ORPHA:2345
HP:0001626	Abnormality of the cardiovascular system	2245	FGD1	ORPHA:915
HP:0001626	Abnormality of the cardiovascular system	63895	PIEZO2	ORPHA:2461
HP:0001626	Abnormality of the cardiovascular system	2201	FBN2	ORPHA:115
HP:0001626	Abnormality of the cardiovascular system	10371	SEMA3A	ORPHA:478
HP:0001626	Abnormality of the cardiovascular system	81848	SPRY4	ORPHA:478
HP:0001626	Abnormality of the cardiovascular system	23767	FLRT3	ORPHA:478
HP:0001626	Abnormality of the cardiovascular system	128674	PROKR2	ORPHA:478
HP:0001626	Abnormality of the cardiovascular system	128674	PROKR2	ORPHA:3157
HP:0001626	Abnormality of the cardiovascular system	79625	NDNF	ORPHA:478
HP:0001626	Abnormality of the cardiovascular system	389549	FEZF1	ORPHA:478
HP:0001626	Abnormality of the cardiovascular system	1630	DCC	ORPHA:478
HP:0001626	Abnormality of the cardiovascular system	3730	ANOS1	ORPHA:478
HP:0001626	Abnormality of the cardiovascular system	54756	IL17RD	ORPHA:478
HP:0001626	Abnormality of the cardiovascular system	6663	SOX10	ORPHA:478
HP:0001626	Abnormality of the cardiovascular system	285025	CCDC141	ORPHA:478
HP:0001626	Abnormality of the cardiovascular system	60675	PROK2	ORPHA:478
HP:0001626	Abnormality of the cardiovascular system	1848	DUSP6	ORPHA:478
HP:0001626	Abnormality of the cardiovascular system	6870	TACR3	ORPHA:478
HP:0001626	Abnormality of the cardiovascular system	55717	WDR11	ORPHA:478
HP:0001626	Abnormality of the cardiovascular system	9394	HS6ST1	ORPHA:478
HP:0001626	Abnormality of the cardiovascular system	8820	HESX1	ORPHA:478
HP:0001626	Abnormality of the cardiovascular system	8820	HESX1	ORPHA:3157
HP:0001626	Abnormality of the cardiovascular system	8822	FGF17	ORPHA:478
HP:0001626	Abnormality of the cardiovascular system	84181	CHD6	ORPHA:2108
HP:0001626	Abnormality of the cardiovascular system	2261	FGFR3	ORPHA:794
HP:0001626	Abnormality of the cardiovascular system	22827	PUF60	ORPHA:508498
HP:0001626	Abnormality of the cardiovascular system	51621	KLF13	OMIM:612001
HP:0001626	Abnormality of the cardiovascular system	9759	HDAC4	ORPHA:1001
HP:0001626	Abnormality of the cardiovascular system	92335	STRADA	ORPHA:500533
HP:0001626	Abnormality of the cardiovascular system	5308	PITX2	ORPHA:782
HP:0001626	Abnormality of the cardiovascular system	2296	FOXC1	ORPHA:782
HP:0001626	Abnormality of the cardiovascular system	55215	FANCI	OMIM:609053
HP:0001626	Abnormality of the cardiovascular system	54101	RIPK4	ORPHA:1234
HP:0001626	Abnormality of the cardiovascular system	2033	EP300	ORPHA:353284
HP:0001626	Abnormality of the cardiovascular system	79158	GNPTAB	ORPHA:576
HP:0001626	Abnormality of the cardiovascular system	9469	CHST3	ORPHA:263463
HP:0001626	Abnormality of the cardiovascular system	5925	RB1	ORPHA:1587
HP:0001626	Abnormality of the cardiovascular system	134701	RIPPLY2	ORPHA:2311
HP:0001626	Abnormality of the cardiovascular system	10683	DLL3	ORPHA:2311
HP:0001626	Abnormality of the cardiovascular system	3955	LFNG	ORPHA:2311
HP:0001626	Abnormality of the cardiovascular system	84667	HES7	ORPHA:2311
HP:0001626	Abnormality of the cardiovascular system	145873	MESP2	ORPHA:2311
HP:0001626	Abnormality of the cardiovascular system	5604	MAP2K1	ORPHA:1340
HP:0001626	Abnormality of the cardiovascular system	5605	MAP2K2	ORPHA:1340
HP:0001626	Abnormality of the cardiovascular system	1312	COMT	ORPHA:567
HP:0001626	Abnormality of the cardiovascular system	221037	JMJD1C	ORPHA:567
HP:0001626	Abnormality of the cardiovascular system	2812	GP1BB	ORPHA:567
HP:0001626	Abnormality of the cardiovascular system	6239	RREB1	ORPHA:567
HP:0001626	Abnormality of the cardiovascular system	6899	TBX1	ORPHA:567
HP:0001626	Abnormality of the cardiovascular system	7290	HIRA	ORPHA:567
HP:0001626	Abnormality of the cardiovascular system	9632	SEC24C	ORPHA:567
HP:0001626	Abnormality of the cardiovascular system	7353	UFD1	ORPHA:567
HP:0001626	Abnormality of the cardiovascular system	421	ARVCF	ORPHA:567
HP:0001626	Abnormality of the cardiovascular system	79583	TMEM231	ORPHA:2318
HP:0001626	Abnormality of the cardiovascular system	79583	TMEM231	ORPHA:564
HP:0001626	Abnormality of the cardiovascular system	51524	TMEM138	ORPHA:2318
HP:0001626	Abnormality of the cardiovascular system	23090	ZNF423	ORPHA:2318
HP:0001626	Abnormality of the cardiovascular system	80184	CEP290	ORPHA:2318
HP:0001626	Abnormality of the cardiovascular system	80184	CEP290	ORPHA:564
HP:0001626	Abnormality of the cardiovascular system	51259	TMEM216	ORPHA:2318
HP:0001626	Abnormality of the cardiovascular system	51259	TMEM216	ORPHA:564
HP:0001626	Abnormality of the cardiovascular system	57545	CC2D2A	ORPHA:2318
HP:0001626	Abnormality of the cardiovascular system	57545	CC2D2A	ORPHA:564
HP:0001626	Abnormality of the cardiovascular system	4566	MT-TK	ORPHA:1349
HP:0001626	Abnormality of the cardiovascular system	8260	NAA10	ORPHA:568
HP:0001626	Abnormality of the cardiovascular system	54880	BCOR	ORPHA:568
HP:0001626	Abnormality of the cardiovascular system	197131	UBR1	ORPHA:2315
HP:0001626	Abnormality of the cardiovascular system	84314	TMEM107	ORPHA:564
HP:0001626	Abnormality of the cardiovascular system	57096	RPGRIP1	ORPHA:564
HP:0001626	Abnormality of the cardiovascular system	79770	TXNDC15	ORPHA:564
HP:0001626	Abnormality of the cardiovascular system	4784	NFIX	ORPHA:561
HP:0001626	Abnormality of the cardiovascular system	4041	LRP5	ORPHA:2788
HP:0001626	Abnormality of the cardiovascular system	51715	RAB23	ORPHA:65759
HP:0001626	Abnormality of the cardiovascular system	1954	MEGF8	ORPHA:65759
HP:0001626	Abnormality of the cardiovascular system	2707	GJB3	ORPHA:317
HP:0001626	Abnormality of the cardiovascular system	2531	KDSR	ORPHA:317
HP:0001626	Abnormality of the cardiovascular system	127534	GJB4	ORPHA:317
HP:0001626	Abnormality of the cardiovascular system	23476	BRD4	ORPHA:199
HP:0001626	Abnormality of the cardiovascular system	9126	SMC3	ORPHA:199
HP:0001626	Abnormality of the cardiovascular system	8243	SMC1A	ORPHA:199
HP:0001626	Abnormality of the cardiovascular system	6878	TAF6	ORPHA:199
HP:0001626	Abnormality of the cardiovascular system	25836	NIPBL	ORPHA:199
HP:0001626	Abnormality of the cardiovascular system	55869	HDAC8	ORPHA:199
HP:0001626	Abnormality of the cardiovascular system	5885	RAD21	ORPHA:199
HP:0001626	Abnormality of the cardiovascular system	5885	RAD21	ORPHA:502
HP:0001626	Abnormality of the cardiovascular system	2316	FLNA	ORPHA:75497
HP:0001626	Abnormality of the cardiovascular system	71	ACTG1	OMIM:614583
HP:0001626	Abnormality of the cardiovascular system	6608	SMO	OMIM:241800
HP:0001626	Abnormality of the cardiovascular system	5781	PTPN11	ORPHA:500
HP:0001626	Abnormality of the cardiovascular system	5781	PTPN11	ORPHA:648
HP:0001626	Abnormality of the cardiovascular system	5894	RAF1	ORPHA:500
HP:0001626	Abnormality of the cardiovascular system	5894	RAF1	ORPHA:648
HP:0001626	Abnormality of the cardiovascular system	57465	TBC1D24	ORPHA:79500
HP:0001626	Abnormality of the cardiovascular system	2131	EXT1	ORPHA:502
HP:0001626	Abnormality of the cardiovascular system	7227	TRPS1	ORPHA:502
HP:0001626	Abnormality of the cardiovascular system	84172	POLR1B	ORPHA:861
HP:0001626	Abnormality of the cardiovascular system	9533	POLR1C	ORPHA:861
HP:0001626	Abnormality of the cardiovascular system	51082	POLR1D	ORPHA:861
HP:0001626	Abnormality of the cardiovascular system	6949	TCOF1	ORPHA:861
HP:0001626	Abnormality of the cardiovascular system	6595	SMARCA2	ORPHA:3051
HP:0001626	Abnormality of the cardiovascular system	6911	TBX6	ORPHA:1797
HP:0001626	Abnormality of the cardiovascular system	6299	SALL1	ORPHA:857
HP:0001626	Abnormality of the cardiovascular system	51339	DACT1	ORPHA:857
HP:0001626	Abnormality of the cardiovascular system	5077	PAX3	ORPHA:894
HP:0001626	Abnormality of the cardiovascular system	1387	CREBBP	ORPHA:353277
HP:0001626	Abnormality of the cardiovascular system	22800	RRAS2	ORPHA:648
HP:0001626	Abnormality of the cardiovascular system	867	CBL	ORPHA:648
HP:0001626	Abnormality of the cardiovascular system	8216	LZTR1	ORPHA:648
HP:0001626	Abnormality of the cardiovascular system	6016	RIT1	ORPHA:648
HP:0001626	Abnormality of the cardiovascular system	6237	RRAS	ORPHA:648
HP:0001626	Abnormality of the cardiovascular system	22808	MRAS	ORPHA:648
HP:0001626	Abnormality of the cardiovascular system	200734	SPRED2	ORPHA:648
HP:0001626	Abnormality of the cardiovascular system	4893	NRAS	ORPHA:648
HP:0001626	Abnormality of the cardiovascular system	6654	SOS1	ORPHA:648
HP:0001626	Abnormality of the cardiovascular system	6655	SOS2	ORPHA:648
HP:0001626	Abnormality of the cardiovascular system	5922	RASA2	ORPHA:648
HP:0001626	Abnormality of the cardiovascular system	4621	MYH3	ORPHA:2990
HP:0001626	Abnormality of the cardiovascular system	1146	CHRNG	ORPHA:2990
HP:0001626	Abnormality of the cardiovascular system	10225	CD96	ORPHA:1308
HP:0001626	Abnormality of the cardiovascular system	4750	NEK1	ORPHA:2751
HP:0001626	Abnormality of the cardiovascular system	3239	HOXD13	ORPHA:887
HP:0001626	Abnormality of the cardiovascular system	79644	SRD5A3	ORPHA:324737
HP:0001626	Abnormality of the cardiovascular system	10082	GPC6	ORPHA:93329
HP:0001626	Abnormality of the cardiovascular system	54361	WNT4	ORPHA:139466
HP:0001626	Abnormality of the cardiovascular system	5167	ENPP1	ORPHA:758
HP:0001626	Abnormality of the cardiovascular system	368	ABCC6	ORPHA:758
HP:0001626	Abnormality of the cardiovascular system	6657	SOX2	ORPHA:3157
HP:0001626	Abnormality of the cardiovascular system	6658	SOX3	ORPHA:3157
HP:0001626	Abnormality of the cardiovascular system	9915	ARNT2	ORPHA:3157
HP:0001626	Abnormality of the cardiovascular system	5015	OTX2	ORPHA:3157
HP:0001626	Abnormality of the cardiovascular system	121340	SP7	OMIM:613849
HP:0001626	Abnormality of the cardiovascular system	1906	EDN1	ORPHA:137888
HP:0001626	Abnormality of the cardiovascular system	5332	PLCB4	ORPHA:137888
HP:0001626	Abnormality of the cardiovascular system	2773	GNAI3	ORPHA:137888
HP:0001626	Abnormality of the cardiovascular system	100131801	PET100	OMIM:619055
HP:0001626	Abnormality of the cardiovascular system	92935	MARS2	OMIM:616430
HP:0001626	Abnormality of the cardiovascular system	26047	CNTNAP2	OMIM:610042
HP:0001626	Abnormality of the cardiovascular system	6678	SPARC	OMIM:616507
HP:0001626	Abnormality of the cardiovascular system	208	AKT2	ORPHA:293964
HP:0001626	Abnormality of the cardiovascular system	760	CA2	ORPHA:2785
HP:0001626	Abnormality of the cardiovascular system	6261	RYR1	ORPHA:466650
HP:0001626	Abnormality of the cardiovascular system	4841	NONO	ORPHA:466791
HP:0001626	Abnormality of the cardiovascular system	1738	DLD	ORPHA:2394
HP:0001626	Abnormality of the cardiovascular system	56244	BTNL2	ORPHA:797
HP:0001626	Abnormality of the cardiovascular system	6696	SPP1	ORPHA:93552
HP:0001626	Abnormality of the cardiovascular system	6696	SPP1	ORPHA:536
HP:0001626	Abnormality of the cardiovascular system	6303	SAT1	ORPHA:93552
HP:0001626	Abnormality of the cardiovascular system	3654	IRAK1	ORPHA:93552
HP:0001626	Abnormality of the cardiovascular system	3654	IRAK1	ORPHA:536
HP:0001626	Abnormality of the cardiovascular system	51284	TLR7	OMIM:301080
HP:0001626	Abnormality of the cardiovascular system	51284	TLR7	ORPHA:536
HP:0001626	Abnormality of the cardiovascular system	29927	SEC61A1	OMIM:620670
HP:0001626	Abnormality of the cardiovascular system	2215	FCGR3B	ORPHA:536
HP:0001626	Abnormality of the cardiovascular system	3684	ITGAM	ORPHA:536
HP:0001626	Abnormality of the cardiovascular system	221895	JAZF1	ORPHA:536
HP:0001626	Abnormality of the cardiovascular system	640	BLK	ORPHA:536
HP:0001626	Abnormality of the cardiovascular system	55024	BANK1	ORPHA:536
HP:0001626	Abnormality of the cardiovascular system	3500	IGHG1	ORPHA:536
HP:0001626	Abnormality of the cardiovascular system	5133	PDCD1	ORPHA:536
HP:0001626	Abnormality of the cardiovascular system	2113	ETS1	ORPHA:536
HP:0001626	Abnormality of the cardiovascular system	2213	FCGR2B	ORPHA:536
HP:0001626	Abnormality of the cardiovascular system	10318	TNIP1	ORPHA:536
HP:0001626	Abnormality of the cardiovascular system	7332	UBE2L3	ORPHA:536
HP:0001626	Abnormality of the cardiovascular system	721	C4B	ORPHA:536
HP:0001626	Abnormality of the cardiovascular system	1773	DNASE1	ORPHA:536
HP:0001626	Abnormality of the cardiovascular system	54899	PXK	ORPHA:536
HP:0001626	Abnormality of the cardiovascular system	7128	TNFAIP3	ORPHA:536
HP:0001626	Abnormality of the cardiovascular system	4137	MAPT	ORPHA:240071
HP:0001626	Abnormality of the cardiovascular system	6472	SHMT2	OMIM:619121
HP:0001626	Abnormality of the cardiovascular system	164	AP1G1	OMIM:619548
HP:0001626	Abnormality of the cardiovascular system	9894	TELO2	ORPHA:488642
HP:0001626	Abnormality of the cardiovascular system	90417	KNSTRN	ORPHA:221139
HP:0001626	Abnormality of the cardiovascular system	2642	GCGR	ORPHA:438274
HP:0001626	Abnormality of the cardiovascular system	7138	TNNT1	OMIM:620386
HP:0001626	Abnormality of the cardiovascular system	493753	COA5	OMIM:616500
HP:0001626	Abnormality of the cardiovascular system	4537	MT-ND3	ORPHA:255210
HP:0001626	Abnormality of the cardiovascular system	7555	CNBP	ORPHA:606
HP:0001626	Abnormality of the cardiovascular system	1289	COL5A1	ORPHA:287
HP:0001626	Abnormality of the cardiovascular system	1290	COL5A2	ORPHA:287
HP:0001626	Abnormality of the cardiovascular system	23129	PLXND1	ORPHA:3384
HP:0001626	Abnormality of the cardiovascular system	83550	GPR101	ORPHA:963
HP:0001626	Abnormality of the cardiovascular system	9049	AIP	ORPHA:963
HP:0001626	Abnormality of the cardiovascular system	54916	TMEM260	OMIM:617478
HP:0001626	Abnormality of the cardiovascular system	57468	SLC12A5	ORPHA:293181
HP:0001626	Abnormality of the cardiovascular system	23236	PLCB1	ORPHA:293181
HP:0001626	Abnormality of the cardiovascular system	57582	KCNT1	ORPHA:293181
HP:0001626	Abnormality of the cardiovascular system	6323	SCN1A	ORPHA:293181
HP:0001626	Abnormality of the cardiovascular system	2581	GALC	ORPHA:206436
HP:0001626	Abnormality of the cardiovascular system	5660	PSAP	ORPHA:206436
HP:0001626	Abnormality of the cardiovascular system	8567	MADD	OMIM:619004
HP:0001626	Abnormality of the cardiovascular system	8567	MADD	OMIM:619005
HP:0001626	Abnormality of the cardiovascular system	1000	CDH2	OMIM:618920
HP:0001626	Abnormality of the cardiovascular system	5336	PLCG2	OMIM:614468
HP:0001626	Abnormality of the cardiovascular system	7026	NR2F2	OMIM:615779
HP:0001626	Abnormality of the cardiovascular system	54800	KLHL24	OMIM:620236
HP:0001626	Abnormality of the cardiovascular system	2657	GDF1	OMIM:613854
HP:0001626	Abnormality of the cardiovascular system	79709	COLGALT1	OMIM:618360
HP:0001626	Abnormality of the cardiovascular system	6452	SH3BP2	OMIM:118400
HP:0001626	Abnormality of the cardiovascular system	6720	SREBF1	OMIM:619016
HP:0001626	Abnormality of the cardiovascular system	81575	APOLD1	OMIM:620715
HP:0001626	Abnormality of the cardiovascular system	23590	PDSS1	OMIM:614651
HP:0001626	Abnormality of the cardiovascular system	490	ATP2B1	OMIM:619910
HP:0001626	Abnormality of the cardiovascular system	3718	JAK3	OMIM:600802
HP:0001626	Abnormality of the cardiovascular system	4792	NFKBIA	ORPHA:98813
HP:0001626	Abnormality of the cardiovascular system	5426	POLE	OMIM:618336
HP:0001626	Abnormality of the cardiovascular system	5426	POLE	OMIM:615139
HP:0001626	Abnormality of the cardiovascular system	9620	CELSR1	OMIM:619319
HP:0001626	Abnormality of the cardiovascular system	1725	DHPS	OMIM:618480
HP:0001626	Abnormality of the cardiovascular system	58528	RRAGD	OMIM:620152
HP:0001626	Abnormality of the cardiovascular system	10551	AGR2	OMIM:620233
HP:0001626	Abnormality of the cardiovascular system	1314	COPA	OMIM:616414
HP:0001626	Abnormality of the cardiovascular system	10664	CTCF	ORPHA:363611
HP:0001626	Abnormality of the cardiovascular system	29123	ANKRD11	ORPHA:2332
HP:0001626	Abnormality of the cardiovascular system	11128	POLR3A	ORPHA:3455
HP:0001626	Abnormality of the cardiovascular system	23299	BICD2	OMIM:618291
HP:0001626	Abnormality of the cardiovascular system	2639	GCDH	ORPHA:25
HP:0001626	Abnormality of the cardiovascular system	2639	GCDH	OMIM:231670
HP:0001626	Abnormality of the cardiovascular system	3703	STT3A	OMIM:619714
HP:0001626	Abnormality of the cardiovascular system	205717	USF3	ORPHA:201
HP:0001626	Abnormality of the cardiovascular system	100144748	KLLN	ORPHA:201
HP:0001626	Abnormality of the cardiovascular system	3930	LBR	ORPHA:779
HP:0001626	Abnormality of the cardiovascular system	79932	KIAA0319L	ORPHA:220402
HP:0001626	Abnormality of the cardiovascular system	55699	IARS2	OMIM:616007
HP:0001626	Abnormality of the cardiovascular system	1540	CYLD	ORPHA:867
HP:0001626	Abnormality of the cardiovascular system	1540	CYLD	ORPHA:211
HP:0001626	Abnormality of the cardiovascular system	11322	TMC6	ORPHA:302
HP:0001626	Abnormality of the cardiovascular system	3574	IL7	ORPHA:302
HP:0001626	Abnormality of the cardiovascular system	147138	TMC8	ORPHA:302
HP:0001626	Abnormality of the cardiovascular system	10519	CIB1	ORPHA:302
HP:0001626	Abnormality of the cardiovascular system	63916	ELMO2	ORPHA:3019
HP:0001626	Abnormality of the cardiovascular system	5424	POLD1	OMIM:615381
HP:0001626	Abnormality of the cardiovascular system	26277	TINF2	ORPHA:1775
HP:0001626	Abnormality of the cardiovascular system	55651	NHP2	ORPHA:1775
HP:0001626	Abnormality of the cardiovascular system	55135	WRAP53	ORPHA:1775
HP:0001626	Abnormality of the cardiovascular system	51750	RTEL1	ORPHA:1775
HP:0001626	Abnormality of the cardiovascular system	4869	NPM1	ORPHA:1775
HP:0001626	Abnormality of the cardiovascular system	7012	TERC	ORPHA:1775
HP:0001626	Abnormality of the cardiovascular system	55505	NOP10	ORPHA:1775
HP:0001626	Abnormality of the cardiovascular system	5073	PARN	ORPHA:1775
HP:0001626	Abnormality of the cardiovascular system	7298	TYMS	ORPHA:1775
HP:0001626	Abnormality of the cardiovascular system	351	APP	ORPHA:324703
HP:0001626	Abnormality of the cardiovascular system	351	APP	ORPHA:324708
HP:0001626	Abnormality of the cardiovascular system	5116	PCNT	ORPHA:2637
HP:0001626	Abnormality of the cardiovascular system	9820	CUL7	ORPHA:2616
HP:0001626	Abnormality of the cardiovascular system	23363	OBSL1	ORPHA:2616
HP:0001626	Abnormality of the cardiovascular system	83987	CCDC8	ORPHA:2616
HP:0001626	Abnormality of the cardiovascular system	5624	PROC	ORPHA:745
HP:0001626	Abnormality of the cardiovascular system	56922	MCCC1	ORPHA:6
HP:0001626	Abnormality of the cardiovascular system	64087	MCCC2	ORPHA:6
HP:0001626	Abnormality of the cardiovascular system	10019	SH2B3	ORPHA:3318
HP:0001626	Abnormality of the cardiovascular system	84168	ANTXR1	ORPHA:2067
HP:0001626	Abnormality of the cardiovascular system	326	AIRE	ORPHA:3453
HP:0001626	Abnormality of the cardiovascular system	5340	PLG	OMIM:619360
HP:0001626	Abnormality of the cardiovascular system	284	ANGPT1	OMIM:619361
HP:0001626	Abnormality of the cardiovascular system	26509	MYOF	OMIM:619366
HP:0001626	Abnormality of the cardiovascular system	64711	HS3ST6	OMIM:619367
HP:0001626	Abnormality of the cardiovascular system	3827	KNG1	OMIM:619363
HP:0001626	Abnormality of the cardiovascular system	1776	DNASE1L3	ORPHA:36412
HP:0001626	Abnormality of the cardiovascular system	2161	F12	OMIM:610618
HP:0001626	Abnormality of the cardiovascular system	101929726	MYMX	ORPHA:1358
HP:0001626	Abnormality of the cardiovascular system	4693	NDP	ORPHA:649
HP:0001626	Abnormality of the cardiovascular system	695	BTK	ORPHA:47
HP:0001626	Abnormality of the cardiovascular system	998	CDC42	ORPHA:487796
HP:0001626	Abnormality of the cardiovascular system	54345	SOX18	ORPHA:69735
HP:0001626	Abnormality of the cardiovascular system	4286	MITF	ORPHA:618
HP:0001626	Abnormality of the cardiovascular system	1019	CDK4	ORPHA:618
HP:0001626	Abnormality of the cardiovascular system	4255	MGMT	ORPHA:618
HP:0001626	Abnormality of the cardiovascular system	54386	TERF2IP	ORPHA:618
HP:0001626	Abnormality of the cardiovascular system	4157	MC1R	ORPHA:618
HP:0001626	Abnormality of the cardiovascular system	65057	ACD	ORPHA:618
HP:0001626	Abnormality of the cardiovascular system	1029	CDKN2A	ORPHA:618
HP:0001626	Abnormality of the cardiovascular system	7015	TERT	ORPHA:618
HP:0001626	Abnormality of the cardiovascular system	25913	POT1	ORPHA:618
HP:0001626	Abnormality of the cardiovascular system	1030	CDKN2B	ORPHA:618
HP:0001626	Abnormality of the cardiovascular system	7248	TSC1	ORPHA:538
HP:0001626	Abnormality of the cardiovascular system	7249	TSC2	ORPHA:538
HP:0001626	Abnormality of the cardiovascular system	4763	NF1	ORPHA:638
HP:0001626	Abnormality of the cardiovascular system	9508	ADAMTS3	ORPHA:2136
HP:0001626	Abnormality of the cardiovascular system	147372	CCBE1	ORPHA:2136
HP:0001626	Abnormality of the cardiovascular system	80781	COL18A1	ORPHA:1571
HP:0001626	Abnormality of the cardiovascular system	5062	PAK2	ORPHA:1571
HP:0001626	Abnormality of the cardiovascular system	6850	SYK	OMIM:619381
HP:0001626	Abnormality of the cardiovascular system	10095	ARPC1B	OMIM:617718
HP:0001626	Abnormality of the cardiovascular system	713	C1QB	OMIM:620321
HP:0001626	Abnormality of the cardiovascular system	3055	HCK	OMIM:620296
HP:0001626	Abnormality of the cardiovascular system	29110	TBK1	OMIM:620880
HP:0001626	Abnormality of the cardiovascular system	79087	ALG12	ORPHA:79324
HP:0001626	Abnormality of the cardiovascular system	146206	CARMIL2	OMIM:618131
HP:0001626	Abnormality of the cardiovascular system	6840	SVIL	OMIM:619040
HP:0001626	Abnormality of the cardiovascular system	3156	HMGCR	OMIM:620375
HP:0001626	Abnormality of the cardiovascular system	51004	COQ6	ORPHA:93921
HP:0001626	Abnormality of the cardiovascular system	2304	FOXE1	ORPHA:319487
HP:0001626	Abnormality of the cardiovascular system	3026	HABP2	ORPHA:319487
HP:0001626	Abnormality of the cardiovascular system	9562	MINPP1	ORPHA:319487
HP:0001626	Abnormality of the cardiovascular system	5837	PYGM	OMIM:232600
HP:0001621	Weak voice	9829	DNAJC6	ORPHA:391411
HP:0001621	Weak voice	5420	PODXL	ORPHA:391411
HP:0001621	Weak voice	8867	SYNJ1	ORPHA:391411
HP:0001621	Weak voice	8867	SYNJ1	OMIM:615530
HP:0001621	Weak voice	2617	GARS1	OMIM:619042
HP:0001621	Weak voice	2512	FTL	ORPHA:157846
HP:0001621	Weak voice	7084	TK2	ORPHA:254886
HP:0001621	Weak voice	5428	POLG	ORPHA:254886
HP:0001621	Weak voice	84909	AOPEP	OMIM:619565
HP:0001621	Weak voice	127833	SYT2	OMIM:619461
HP:0001621	Weak voice	4137	MAPT	ORPHA:240094
HP:0001621	Weak voice	4137	MAPT	OMIM:168600
HP:0001621	Weak voice	4591	TRIM37	OMIM:253250
HP:0001621	Weak voice	4771	NF2	ORPHA:93921
HP:0001621	Weak voice	6598	SMARCB1	ORPHA:93921
HP:0001621	Weak voice	51004	COQ6	ORPHA:93921
HP:0001621	Weak voice	8216	LZTR1	ORPHA:93921
HP:0001621	Weak voice	4287	ATXN3	OMIM:168600
HP:0001621	Weak voice	2629	GBA1	OMIM:168600
HP:0001621	Weak voice	126	ADH1C	OMIM:168600
HP:0001621	Weak voice	4576	MT-TT	OMIM:168600
HP:0001621	Weak voice	9627	SNCAIP	OMIM:168600
HP:0001621	Weak voice	6908	TBP	OMIM:168600
HP:0001621	Weak voice	4929	NR4A2	OMIM:168600
HP:0001621	Weak voice	6311	ATXN2	OMIM:168600
HP:0001621	Weak voice	6315	ATXN8OS	OMIM:168600
HP:0001621	Weak voice	3339	HSPG2	OMIM:255800
HP:0001621	Weak voice	3339	HSPG2	ORPHA:800
HP:0001621	Weak voice	113278	SLC52A3	OMIM:211530
HP:0001621	Weak voice	4796	TONSL	ORPHA:93357
HP:0001621	Weak voice	9782	MATR3	ORPHA:600
HP:0001621	Weak voice	10159	ATP6AP2	ORPHA:93952
HP:0001621	Weak voice	2273	FHL1	OMIM:300280
HP:0001621	Weak voice	1639	DCTN1	OMIM:168605
HP:0001623	Breech presentation	2261	FGFR3	OMIM:187600
HP:0001623	Breech presentation	2261	FGFR3	OMIM:616482
HP:0001623	Breech presentation	1836	SLC26A2	OMIM:600972
HP:0001623	Breech presentation	5447	POR	OMIM:201750
HP:0001623	Breech presentation	51422	PRKAG2	OMIM:261740
HP:0001623	Breech presentation	56203	LMOD3	OMIM:616165
HP:0001623	Breech presentation	56203	LMOD3	ORPHA:171430
HP:0001623	Breech presentation	55699	IARS2	OMIM:616007
HP:0001623	Breech presentation	8425	LTBP4	OMIM:613177
HP:0001623	Breech presentation	100151683	RNU4ATAC	OMIM:210710
HP:0001623	Breech presentation	6023	RMRP	OMIM:250250
HP:0001623	Breech presentation	100033413	SNORD116-1	OMIM:176270
HP:0001623	Breech presentation	8924	HERC2	OMIM:176270
HP:0001623	Breech presentation	23742	NPAP1	OMIM:176270
HP:0001623	Breech presentation	338433	SNORD115-1	OMIM:176270
HP:0001623	Breech presentation	54551	MAGEL2	OMIM:176270
HP:0001623	Breech presentation	7681	MKRN3	OMIM:176270
HP:0001623	Breech presentation	145624	PWAR1	OMIM:176270
HP:0001623	Breech presentation	3653	IPW	OMIM:176270
HP:0001623	Breech presentation	791114	PWRN1	OMIM:176270
HP:0001623	Breech presentation	374879	ZNF699	OMIM:619488
HP:0001623	Breech presentation	6651	SON	OMIM:617140
HP:0001623	Breech presentation	80816	ASXL3	OMIM:615485
HP:0001623	Breech presentation	58	ACTA1	ORPHA:171430
HP:0001623	Breech presentation	58	ACTA1	OMIM:620278
HP:0001623	Breech presentation	58	ACTA1	ORPHA:171439
HP:0001623	Breech presentation	4703	NEB	ORPHA:171430
HP:0001623	Breech presentation	4703	NEB	ORPHA:171439
HP:0001623	Breech presentation	131377	KLHL40	ORPHA:171430
HP:0001623	Breech presentation	10324	KLHL41	ORPHA:171430
HP:0001623	Breech presentation	10324	KLHL41	OMIM:615731
HP:0001623	Breech presentation	10324	KLHL41	ORPHA:171439
HP:0001623	Breech presentation	1841	DTYMK	OMIM:619847
HP:0001623	Breech presentation	1278	COL1A2	OMIM:617821
HP:0001623	Breech presentation	4976	OPA1	OMIM:616896
HP:0001623	Breech presentation	23729	SHPK	ORPHA:440713
HP:0001623	Breech presentation	9200	HACD1	OMIM:619967
HP:0001623	Breech presentation	6329	SCN4A	OMIM:620351
HP:0001623	Breech presentation	6329	SCN4A	OMIM:620369
HP:0001623	Breech presentation	5189	PEX1	OMIM:214100
HP:0001623	Breech presentation	95	ACY1	OMIM:609924
HP:0001623	Breech presentation	4621	MYH3	OMIM:193700
HP:0001623	Breech presentation	3190	HNRNPK	OMIM:616580
HP:0001623	Breech presentation	55870	ASH1L	OMIM:617796
HP:0001623	Breech presentation	4998	ORC1	OMIM:224690
HP:0001623	Breech presentation	51780	KDM3B	OMIM:618846
HP:0001623	Breech presentation	9469	CHST3	OMIM:143095
HP:0001623	Breech presentation	10491	CRTAP	OMIM:610682
HP:0001623	Breech presentation	84665	MYPN	ORPHA:171439
HP:0001623	Breech presentation	7169	TPM2	ORPHA:171439
HP:0001623	Breech presentation	390594	KBTBD13	ORPHA:171439
HP:0001623	Breech presentation	7170	TPM3	ORPHA:171439
HP:0001623	Breech presentation	55681	SCYL2	ORPHA:1143
HP:0001623	Breech presentation	84570	COL25A1	ORPHA:1143
HP:0001623	Breech presentation	57222	ERGIC1	ORPHA:1143
HP:0001623	Breech presentation	1073	CFL2	OMIM:610687
HP:0001623	Breech presentation	1717	DHCR7	OMIM:270400
HP:0001623	Breech presentation	1277	COL1A1	OMIM:130060
HP:0001623	Breech presentation	6261	RYR1	OMIM:619542
HP:0001623	Breech presentation	54903	MKS1	OMIM:249000
HP:0001623	Breech presentation	25930	PTPN23	OMIM:618890
HP:0001623	Breech presentation	5277	PIGA	OMIM:300868
HP:0001623	Breech presentation	667	DST	OMIM:614653
HP:0001623	Breech presentation	84300	UQCC2	OMIM:615824
HP:0001623	Breech presentation	7407	VARS1	OMIM:617802
HP:0001623	Breech presentation	9898	UBAP2L	OMIM:620494
HP:0001622	Premature birth	4693	NDP	ORPHA:90050
HP:0001622	Premature birth	4041	LRP5	ORPHA:90050
HP:0001622	Premature birth	8322	FZD4	ORPHA:90050
HP:0001622	Premature birth	5076	PAX2	ORPHA:97362
HP:0001622	Premature birth	5087	PBX1	ORPHA:97362
HP:0001622	Premature birth	6134	RPL10	OMIM:300998
HP:0001622	Premature birth	26235	FBXL4	OMIM:615471
HP:0001622	Premature birth	10262	SF3B4	OMIM:154400
HP:0001622	Premature birth	23019	CNOT1	OMIM:619033
HP:0001622	Premature birth	56203	LMOD3	OMIM:616165
HP:0001622	Premature birth	56203	LMOD3	ORPHA:171430
HP:0001622	Premature birth	54973	INTS11	OMIM:620428
HP:0001622	Premature birth	673	BRAF	OMIM:115150
HP:0001622	Premature birth	673	BRAF	ORPHA:1340
HP:0001622	Premature birth	55627	SMPD4	OMIM:618622
HP:0001622	Premature birth	4625	MYH7	ORPHA:1880
HP:0001622	Premature birth	2720	GLB1	OMIM:230600
HP:0001622	Premature birth	253738	EBF3	ORPHA:96148
HP:0001622	Premature birth	5745	PTH1R	OMIM:215045
HP:0001622	Premature birth	5745	PTH1R	ORPHA:50945
HP:0001622	Premature birth	2629	GBA1	OMIM:608013
HP:0001622	Premature birth	10999	SLC27A4	OMIM:608649
HP:0001622	Premature birth	10999	SLC27A4	ORPHA:88621
HP:0001622	Premature birth	58	ACTA1	ORPHA:171433
HP:0001622	Premature birth	58	ACTA1	ORPHA:171430
HP:0001622	Premature birth	4703	NEB	ORPHA:171433
HP:0001622	Premature birth	4703	NEB	ORPHA:171430
HP:0001622	Premature birth	10324	KLHL41	ORPHA:171433
HP:0001622	Premature birth	10324	KLHL41	ORPHA:171430
HP:0001622	Premature birth	7170	TPM3	ORPHA:171433
HP:0001622	Premature birth	613	BCR	ORPHA:261330
HP:0001622	Premature birth	1399	CRKL	ORPHA:261330
HP:0001622	Premature birth	5594	MAPK1	ORPHA:261330
HP:0001622	Premature birth	131377	KLHL40	ORPHA:171430
HP:0001622	Premature birth	55163	PNPO	ORPHA:79096
HP:0001622	Premature birth	55163	PNPO	OMIM:610090
HP:0001622	Premature birth	3508	IGHMBP2	OMIM:604320
HP:0001622	Premature birth	284403	WDR62	OMIM:604317
HP:0001622	Premature birth	2260	FGFR1	ORPHA:280200
HP:0001622	Premature birth	28514	DLL1	ORPHA:280200
HP:0001622	Premature birth	2253	FGF8	ORPHA:280200
HP:0001622	Premature birth	6496	SIX3	ORPHA:280200
HP:0001622	Premature birth	7050	TGIF1	ORPHA:280200
HP:0001622	Premature birth	4838	NODAL	ORPHA:280200
HP:0001622	Premature birth	6469	SHH	ORPHA:280200
HP:0001622	Premature birth	51684	SUFU	ORPHA:280200
HP:0001622	Premature birth	7546	ZIC2	ORPHA:280200
HP:0001622	Premature birth	2619	GAS1	ORPHA:280200
HP:0001622	Premature birth	84976	DISP1	ORPHA:280200
HP:0001622	Premature birth	2736	GLI2	ORPHA:280200
HP:0001622	Premature birth	8928	FOXH1	ORPHA:280200
HP:0001622	Premature birth	6997	CRIPTO	ORPHA:280200
HP:0001622	Premature birth	5727	PTCH1	ORPHA:280200
HP:0001622	Premature birth	50937	CDON	ORPHA:280200
HP:0001622	Premature birth	1725	DHPS	OMIM:618480
HP:0001622	Premature birth	10916	MAGED2	OMIM:300971
HP:0001622	Premature birth	54539	NDUFB11	OMIM:301021
HP:0001622	Premature birth	4709	NDUFB3	OMIM:618246
HP:0001622	Premature birth	1272	CNTN1	OMIM:612540
HP:0001622	Premature birth	10352	WARS2	OMIM:619738
HP:0001622	Premature birth	9968	MED12	ORPHA:93932
HP:0001622	Premature birth	6773	STAT2	OMIM:618886
HP:0001622	Premature birth	6499	SKIC2	OMIM:614602
HP:0001622	Premature birth	51008	ASCC1	OMIM:616867
HP:0001622	Premature birth	5604	MAP2K1	ORPHA:1340
HP:0001622	Premature birth	5605	MAP2K2	ORPHA:1340
HP:0001622	Premature birth	3845	KRAS	ORPHA:1340
HP:0001622	Premature birth	1277	COL1A1	OMIM:166210
HP:0001622	Premature birth	1277	COL1A1	ORPHA:287
HP:0001622	Premature birth	1278	COL1A2	OMIM:166210
HP:0001622	Premature birth	9325	TRIP4	OMIM:616866
HP:0001622	Premature birth	2317	FLNB	OMIM:108720
HP:0001622	Premature birth	1289	COL5A1	ORPHA:287
HP:0001622	Premature birth	1290	COL5A2	ORPHA:287
HP:0001622	Premature birth	1717	DHCR7	OMIM:270400
HP:0001622	Premature birth	1583	CYP11A1	ORPHA:289548
HP:0001622	Premature birth	1583	CYP11A1	ORPHA:168558
HP:0001622	Premature birth	6557	SLC12A1	OMIM:601678
HP:0001622	Premature birth	1281	COL3A1	ORPHA:286
HP:0001622	Premature birth	7809	BSND	OMIM:602522
HP:0001622	Premature birth	7809	BSND	ORPHA:89938
HP:0001622	Premature birth	1760	DMPK	ORPHA:589821
HP:0001622	Premature birth	9509	ADAMTS2	OMIM:225410
HP:0001622	Premature birth	54968	TMEM70	OMIM:614052
HP:0001622	Premature birth	3758	KCNJ1	OMIM:241200
HP:0001622	Premature birth	5244	ABCB4	OMIM:614972
HP:0001622	Premature birth	5244	ABCB4	ORPHA:69665
HP:0001622	Premature birth	7253	TSHR	OMIM:609152
HP:0001622	Premature birth	114548	NLRP3	ORPHA:1451
HP:0001622	Premature birth	6304	SATB1	OMIM:619229
HP:0001622	Premature birth	3265	HRAS	OMIM:218040
HP:0001622	Premature birth	2200	FBN1	OMIM:616914
HP:0001622	Premature birth	2313	FLI1	ORPHA:2308
HP:0001622	Premature birth	2584	GALK1	ORPHA:79237
HP:0001622	Premature birth	4534	MTM1	ORPHA:596
HP:0001622	Premature birth	4534	MTM1	OMIM:310400
HP:0001622	Premature birth	23476	BRD4	ORPHA:199
HP:0001622	Premature birth	9126	SMC3	ORPHA:199
HP:0001622	Premature birth	8243	SMC1A	ORPHA:199
HP:0001622	Premature birth	6878	TAF6	ORPHA:199
HP:0001622	Premature birth	25836	NIPBL	ORPHA:199
HP:0001622	Premature birth	55869	HDAC8	ORPHA:199
HP:0001622	Premature birth	5885	RAD21	ORPHA:199
HP:0001622	Premature birth	26154	ABCA12	OMIM:242500
HP:0001622	Premature birth	1188	CLCNKB	ORPHA:89938
HP:0001622	Premature birth	1188	CLCNKB	OMIM:613090
HP:0001622	Premature birth	1187	CLCNKA	ORPHA:89938
HP:0001622	Premature birth	1187	CLCNKA	OMIM:613090
HP:0001622	Premature birth	1186	CLCN7	OMIM:618541
HP:0001622	Premature birth	57003	CCDC47	OMIM:618268
HP:0001622	Premature birth	57187	THOC2	OMIM:300957
HP:0001622	Premature birth	4593	MUSK	OMIM:208150
HP:0001622	Premature birth	9255	AIMP1	OMIM:260600
HP:0001622	Premature birth	3043	HBB	ORPHA:2133
HP:0001622	Premature birth	157570	ESCO2	ORPHA:3103
HP:0001622	Premature birth	388015	RTL1	ORPHA:96184
HP:0001622	Premature birth	388015	RTL1	ORPHA:96334
HP:0001622	Premature birth	8788	DLK1	ORPHA:96184
HP:0001622	Premature birth	8788	DLK1	ORPHA:96334
HP:0001622	Premature birth	55384	MEG3	ORPHA:96184
HP:0001622	Premature birth	55384	MEG3	ORPHA:96334
HP:0001622	Premature birth	5054	SERPINE1	ORPHA:465
HP:0001622	Premature birth	213	ALB	ORPHA:86816
HP:0001622	Premature birth	374879	ZNF699	OMIM:619488
HP:0001622	Premature birth	9276	COPB2	OMIM:619884
HP:0001622	Premature birth	253959	RALGAPA1	OMIM:618797
HP:0001622	Premature birth	2232	FDXR	ORPHA:543470
HP:0001622	Premature birth	100151683	RNU4ATAC	OMIM:616651
HP:0001622	Premature birth	100151683	RNU4ATAC	ORPHA:2636
HP:0001622	Premature birth	55640	FLVCR2	OMIM:225790
HP:0001622	Premature birth	5205	ATP8B1	ORPHA:69665
HP:0001622	Premature birth	5205	ATP8B1	OMIM:147480
HP:0001622	Premature birth	8647	ABCB11	ORPHA:69665
HP:0001622	Premature birth	9971	NR1H4	ORPHA:69665
HP:0001622	Premature birth	55278	QRSL1	OMIM:618835
HP:0001622	Premature birth	50485	SMARCAL1	ORPHA:1830
HP:0001622	Premature birth	92335	STRADA	OMIM:611087
HP:0001622	Premature birth	5188	GATB	OMIM:618838
HP:0001622	Premature birth	1811	SLC26A3	OMIM:214700
HP:0001622	Premature birth	2683	B4GALT1	ORPHA:79332
HP:0001622	Premature birth	283459	GATC	OMIM:618839
HP:0001622	Premature birth	3516	RBPJ	ORPHA:974
HP:0001622	Premature birth	4851	NOTCH1	ORPHA:974
HP:0001622	Premature birth	57514	ARHGAP31	ORPHA:974
HP:0001622	Premature birth	57572	DOCK6	ORPHA:974
HP:0001622	Premature birth	285203	EOGT	ORPHA:974
HP:0001622	Premature birth	54567	DLL4	ORPHA:974
HP:0001622	Premature birth	1301	COL11A1	ORPHA:440354
HP:0001622	Premature birth	6440	SFTPC	ORPHA:685082
HP:0001622	Premature birth	21	ABCA3	ORPHA:685082
HP:0001622	Premature birth	6439	SFTPB	ORPHA:685082
HP:0001622	Premature birth	197258	FCSK	OMIM:618324
HP:0001622	Premature birth	84231	TRAF7	OMIM:618164
HP:0001622	Premature birth	26503	SLC17A5	OMIM:269920
HP:0001622	Premature birth	8565	YARS1	OMIM:619418
HP:0001622	Premature birth	4000	LMNA	ORPHA:1662
HP:0001622	Premature birth	10269	ZMPSTE24	ORPHA:1662
HP:0001622	Premature birth	10269	ZMPSTE24	OMIM:275210
HP:0001622	Premature birth	51294	PCDH12	OMIM:251280
HP:0001622	Premature birth	79087	ALG12	ORPHA:79324
HP:0001622	Premature birth	6223	RPS19	OMIM:105650
HP:0001622	Premature birth	79053	ALG8	ORPHA:79325
HP:0001622	Premature birth	3239	HOXD13	ORPHA:887
HP:0001622	Premature birth	286204	CRB2	OMIM:219730
HP:0001622	Premature birth	9896	FIG4	OMIM:216340
HP:0001622	Premature birth	6567	SLC16A2	ORPHA:59
HP:0001622	Premature birth	23040	MYT1L	ORPHA:647799
HP:0001622	Premature birth	7543	ZFX	OMIM:301118
HP:0001622	Premature birth	219844	HYLS1	ORPHA:2189
HP:0001622	Premature birth	374654	KIF7	ORPHA:2189
HP:0001622	Premature birth	826	CAPNS1	OMIM:620777
HP:0001622	Premature birth	7407	VARS1	OMIM:617802
HP:0001622	Premature birth	79693	YRDC	ORPHA:2065
HP:0001622	Premature birth	51002	TPRKB	ORPHA:2065
HP:0001622	Premature birth	84942	WDR73	ORPHA:2065
HP:0001622	Premature birth	55644	OSGEP	ORPHA:2065
HP:0001622	Premature birth	57122	NUP107	ORPHA:2065
HP:0001622	Premature birth	10785	WDR4	ORPHA:2065
HP:0001622	Premature birth	55746	NUP133	ORPHA:2065
HP:0001622	Premature birth	84520	GON7	ORPHA:2065
HP:0001622	Premature birth	112858	TP53RK	ORPHA:2065
HP:0001622	Premature birth	8270	LAGE3	ORPHA:2065
HP:0001622	Premature birth	55670	PEX26	ORPHA:912
HP:0001622	Premature birth	5824	PEX19	ORPHA:912
HP:0001622	Premature birth	5828	PEX2	ORPHA:912
HP:0001622	Premature birth	8504	PEX3	ORPHA:912
HP:0001622	Premature birth	8799	PEX11B	ORPHA:912
HP:0001622	Premature birth	9409	PEX16	ORPHA:912
HP:0001622	Premature birth	5190	PEX6	ORPHA:912
HP:0001622	Premature birth	5830	PEX5	ORPHA:912
HP:0001622	Premature birth	5189	PEX1	ORPHA:912
HP:0001622	Premature birth	5193	PEX12	ORPHA:912
HP:0001622	Premature birth	5194	PEX13	ORPHA:912
HP:0001622	Premature birth	5195	PEX14	ORPHA:912
HP:0001622	Premature birth	5192	PEX10	ORPHA:912
HP:0001622	Premature birth	54938	SARS2	OMIM:613845
HP:0001622	Premature birth	64858	DCLRE1B	OMIM:620133
HP:0001622	Premature birth	4067	LYN	OMIM:620376
HP:0001622	Premature birth	4054	LTBP3	OMIM:617809
HP:0001622	Premature birth	51163	DBR1	OMIM:620510
HP:0001622	Premature birth	440	ASNS	OMIM:615574
HP:0001622	Premature birth	51117	COQ4	OMIM:616276
HP:0040006	Mortality/Aging	83483	PLVAP	OMIM:618183
HP:0040006	Mortality/Aging	10128	LRPPRC	OMIM:220111
HP:0040006	Mortality/Aging	199857	ALG14	OMIM:619036
HP:0040006	Mortality/Aging	79717	PPCS	OMIM:618189
HP:0040006	Mortality/Aging	3551	IKBKB	OMIM:615592
HP:0040006	Mortality/Aging	341640	FREM2	ORPHA:2052
HP:0040006	Mortality/Aging	80144	FRAS1	ORPHA:2052
HP:0040006	Mortality/Aging	23426	GRIP1	ORPHA:2052
HP:0040006	Mortality/Aging	8425	LTBP4	OMIM:613177
HP:0040006	Mortality/Aging	83700	JAM3	OMIM:613730
HP:0040006	Mortality/Aging	10059	DNM1L	OMIM:614388
HP:0040006	Mortality/Aging	55627	SMPD4	OMIM:618622
HP:0040006	Mortality/Aging	58	ACTA1	OMIM:620265
HP:0040006	Mortality/Aging	58	ACTA1	OMIM:620278
HP:0040006	Mortality/Aging	10667	FARS2	OMIM:614946
HP:0040006	Mortality/Aging	51	ACOX1	ORPHA:2971
HP:0040006	Mortality/Aging	2731	GLDC	OMIM:605899
HP:0040006	Mortality/Aging	4072	EPCAM	ORPHA:144
HP:0040006	Mortality/Aging	4292	MLH1	ORPHA:144
HP:0040006	Mortality/Aging	5395	PMS2	ORPHA:144
HP:0040006	Mortality/Aging	7048	TGFBR2	ORPHA:144
HP:0040006	Mortality/Aging	3845	KRAS	ORPHA:144
HP:0040006	Mortality/Aging	5290	PIK3CA	ORPHA:144
HP:0040006	Mortality/Aging	2956	MSH6	ORPHA:144
HP:0040006	Mortality/Aging	5378	PMS1	ORPHA:144
HP:0040006	Mortality/Aging	4436	MSH2	ORPHA:144
HP:0040006	Mortality/Aging	54968	TMEM70	ORPHA:1194
HP:0040006	Mortality/Aging	249	ALPL	OMIM:241500
HP:0040006	Mortality/Aging	65993	MRPS34	OMIM:617664
HP:0040006	Mortality/Aging	80816	ASXL3	OMIM:615485
HP:0040006	Mortality/Aging	1352	COX10	OMIM:619046
HP:0040006	Mortality/Aging	387787	LIPT2	OMIM:617668
HP:0040006	Mortality/Aging	4056	LTC4S	OMIM:614037
HP:0040006	Mortality/Aging	1785	DNM2	OMIM:615368
HP:0040006	Mortality/Aging	477	ATP1A2	OMIM:619605
HP:0040006	Mortality/Aging	2670	GFAP	OMIM:203450
HP:0040006	Mortality/Aging	2137	EXTL3	OMIM:617425
HP:0040006	Mortality/Aging	10084	PQBP1	ORPHA:93946
HP:0040006	Mortality/Aging	5979	RET	ORPHA:99803
HP:0040006	Mortality/Aging	429	ASCL1	ORPHA:99803
HP:0040006	Mortality/Aging	8929	PHOX2B	ORPHA:99803
HP:0040006	Mortality/Aging	1410	CRYAB	OMIM:613869
HP:0040006	Mortality/Aging	1353	COX11	OMIM:620275
HP:0040006	Mortality/Aging	3988	LIPA	OMIM:620151
HP:0040006	Mortality/Aging	3988	LIPA	OMIM:278000
HP:0040006	Mortality/Aging	6439	SFTPB	OMIM:265120
HP:0040006	Mortality/Aging	7259	TSPYL1	ORPHA:168593
HP:0040006	Mortality/Aging	55687	TRMU	OMIM:613070
HP:0040006	Mortality/Aging	100131801	PET100	OMIM:619055
HP:0040006	Mortality/Aging	3899	AFF3	OMIM:619297
HP:0040006	Mortality/Aging	1020	CDK5	OMIM:616342
HP:0040006	Mortality/Aging	150094	SIK1	OMIM:616341
HP:0040006	Mortality/Aging	1272	CNTN1	OMIM:612540
HP:0040006	Mortality/Aging	84876	ORAI1	OMIM:612782
HP:0040006	Mortality/Aging	6773	STAT2	OMIM:618886
HP:0040006	Mortality/Aging	1801	DPH1	OMIM:616901
HP:0040006	Mortality/Aging	8792	TNFRSF11A	OMIM:612301
HP:0040006	Mortality/Aging	55681	SCYL2	OMIM:618766
HP:0040006	Mortality/Aging	64359	NXN	ORPHA:1507
HP:0040006	Mortality/Aging	4920	ROR2	ORPHA:1507
HP:0040006	Mortality/Aging	21	ABCA3	OMIM:610921
HP:0040006	Mortality/Aging	546	ATRX	ORPHA:847
HP:0040006	Mortality/Aging	54675	CRLS1	OMIM:620167
HP:0040006	Mortality/Aging	8802	SUCLG1	OMIM:245400
HP:0040006	Mortality/Aging	1717	DHCR7	OMIM:270400
HP:0040006	Mortality/Aging	9377	COX5A	OMIM:619064
HP:0040006	Mortality/Aging	118429	ANTXR2	ORPHA:2028
HP:0040006	Mortality/Aging	388962	BOLA3	OMIM:614299
HP:0040006	Mortality/Aging	4632	MYL1	OMIM:618414
HP:0040006	Mortality/Aging	63894	VIPAS39	OMIM:613404
HP:0040006	Mortality/Aging	79053	ALG8	OMIM:608104
HP:0040006	Mortality/Aging	1174	AP1S1	OMIM:609313
HP:0040006	Mortality/Aging	5373	PMM2	OMIM:212065
HP:0040006	Mortality/Aging	63901	FAM111A	OMIM:602361
HP:0040006	Mortality/Aging	26154	ABCA12	OMIM:242500
HP:0040006	Mortality/Aging	57217	TTC7A	OMIM:243150
HP:0040006	Mortality/Aging	2629	GBA1	ORPHA:85212
HP:0040006	Mortality/Aging	2629	GBA1	OMIM:230900
HP:0040006	Mortality/Aging	65080	MRPL44	OMIM:615395
HP:0040006	Mortality/Aging	5190	PEX6	OMIM:614862
HP:0040006	Mortality/Aging	5190	PEX6	ORPHA:912
HP:0040006	Mortality/Aging	9255	AIMP1	OMIM:260600
HP:0040006	Mortality/Aging	5828	PEX2	OMIM:614866
HP:0040006	Mortality/Aging	5828	PEX2	ORPHA:912
HP:0040006	Mortality/Aging	10013	HDAC6	ORPHA:163966
HP:0040006	Mortality/Aging	8021	NUP214	OMIM:618426
HP:0040006	Mortality/Aging	128674	PROKR2	ORPHA:95496
HP:0040006	Mortality/Aging	89884	LHX4	ORPHA:95496
HP:0040006	Mortality/Aging	55717	WDR11	ORPHA:95496
HP:0040006	Mortality/Aging	6091	ROBO1	ORPHA:95496
HP:0040006	Mortality/Aging	8820	HESX1	ORPHA:95496
HP:0040006	Mortality/Aging	50937	CDON	ORPHA:95496
HP:0040006	Mortality/Aging	23432	GPR161	ORPHA:95496
HP:0040006	Mortality/Aging	23474	ETHE1	OMIM:602473
HP:0040006	Mortality/Aging	84992	PIGY	OMIM:616809
HP:0040006	Mortality/Aging	51611	DPH5	OMIM:620070
HP:0040006	Mortality/Aging	6628	SNRPB	ORPHA:1393
HP:0040006	Mortality/Aging	8818	DPM2	OMIM:615042
HP:0040006	Mortality/Aging	9321	TRIP11	OMIM:184260
HP:0040006	Mortality/Aging	9321	TRIP11	ORPHA:166272
HP:0040006	Mortality/Aging	10436	EMG1	ORPHA:1270
HP:0040006	Mortality/Aging	57169	ZNFX1	OMIM:619644
HP:0040006	Mortality/Aging	55670	PEX26	OMIM:614872
HP:0040006	Mortality/Aging	55670	PEX26	ORPHA:912
HP:0040006	Mortality/Aging	28976	ACAD9	OMIM:611126
HP:0040006	Mortality/Aging	9409	PEX16	OMIM:614876
HP:0040006	Mortality/Aging	9409	PEX16	ORPHA:912
HP:0040006	Mortality/Aging	25802	LMOD1	ORPHA:2241
HP:0040006	Mortality/Aging	4629	MYH11	ORPHA:2241
HP:0040006	Mortality/Aging	72	ACTG2	ORPHA:2241
HP:0040006	Mortality/Aging	4638	MYLK	ORPHA:2241
HP:0040006	Mortality/Aging	917	CD3G	OMIM:615607
HP:0040006	Mortality/Aging	2239	GPC4	ORPHA:373
HP:0040006	Mortality/Aging	2719	GPC3	ORPHA:373
HP:0040006	Mortality/Aging	4000	LMNA	ORPHA:157973
HP:0040006	Mortality/Aging	6603	SMARCD2	OMIM:617475
HP:0040006	Mortality/Aging	729920	CRPPA	OMIM:614643
HP:0040006	Mortality/Aging	8504	PEX3	OMIM:614882
HP:0040006	Mortality/Aging	8504	PEX3	ORPHA:912
HP:0040006	Mortality/Aging	54916	TMEM260	OMIM:617478
HP:0040006	Mortality/Aging	2261	FGFR3	OMIM:100800
HP:0040006	Mortality/Aging	2720	GLB1	OMIM:230500
HP:0040006	Mortality/Aging	3339	HSPG2	ORPHA:800
HP:0040006	Mortality/Aging	3914	LAMB3	OMIM:226700
HP:0040006	Mortality/Aging	3918	LAMC2	OMIM:226700
HP:0040006	Mortality/Aging	3918	LAMC2	OMIM:619786
HP:0040006	Mortality/Aging	3909	LAMA3	OMIM:226700
HP:0040006	Mortality/Aging	3909	LAMA3	OMIM:619784
HP:0040006	Mortality/Aging	27247	NFU1	OMIM:605711
HP:0040006	Mortality/Aging	57505	AARS2	OMIM:614096
HP:0040006	Mortality/Aging	51645	PPIL1	OMIM:619301
HP:0040006	Mortality/Aging	205327	C2orf69	OMIM:619423
HP:0040006	Mortality/Aging	51362	CDC40	OMIM:619302
HP:0040006	Mortality/Aging	4633	MYL2	OMIM:619424
HP:0040006	Mortality/Aging	91137	SLC25A46	OMIM:619303
HP:0040006	Mortality/Aging	1892	ECHS1	OMIM:616277
HP:0040006	Mortality/Aging	133686	NADK2	OMIM:616034
HP:0040006	Mortality/Aging	51025	PAM16	OMIM:613320
HP:0040006	Mortality/Aging	27429	HTRA2	OMIM:617248
HP:0040006	Mortality/Aging	57724	EPG5	ORPHA:1493
HP:0040006	Mortality/Aging	5824	PEX19	ORPHA:912
HP:0040006	Mortality/Aging	8799	PEX11B	ORPHA:912
HP:0040006	Mortality/Aging	5830	PEX5	ORPHA:912
HP:0040006	Mortality/Aging	5189	PEX1	ORPHA:912
HP:0040006	Mortality/Aging	5193	PEX12	ORPHA:912
HP:0040006	Mortality/Aging	5194	PEX13	ORPHA:912
HP:0040006	Mortality/Aging	5195	PEX14	ORPHA:912
HP:0040006	Mortality/Aging	5192	PEX10	ORPHA:912
HP:0040006	Mortality/Aging	56052	ALG1	OMIM:608540
HP:0040006	Mortality/Aging	9488	PIGB	OMIM:618580
HP:0040006	Mortality/Aging	91949	COG7	OMIM:608779
HP:0040006	Mortality/Aging	2266	FGG	OMIM:202400
HP:0040006	Mortality/Aging	2243	FGA	OMIM:202400
HP:0040006	Mortality/Aging	2244	FGB	OMIM:202400
HP:0040006	Mortality/Aging	10112	KIF20A	OMIM:619433
HP:0040006	Mortality/Aging	3691	ITGB4	OMIM:226730
HP:0040006	Mortality/Aging	5339	PLEC	OMIM:226730
HP:0040006	Mortality/Aging	112	ADCY6	OMIM:616287
HP:0040006	Mortality/Aging	2187	FANCB	OMIM:300514
HP:0040006	Mortality/Aging	56203	LMOD3	OMIM:616165
HP:0040006	Mortality/Aging	7167	TPI1	OMIM:615512
HP:0040006	Mortality/Aging	100151683	RNU4ATAC	OMIM:210710
HP:0040006	Mortality/Aging	9526	MPDU1	OMIM:609180
HP:0040006	Mortality/Aging	4729	NDUFV2	OMIM:618229
HP:0040006	Mortality/Aging	3032	HADHB	OMIM:620300
HP:0040006	Mortality/Aging	10102	TSFM	OMIM:610505
HP:0040006	Mortality/Aging	256297	PTF1A	OMIM:609069
HP:0040006	Mortality/Aging	56945	MRPS22	OMIM:611719
HP:0040006	Mortality/Aging	283989	TSEN54	OMIM:225753
HP:0040006	Mortality/Aging	4695	NDUFA2	OMIM:618235
HP:0040006	Mortality/Aging	6809	STX3	OMIM:619446
HP:0040006	Mortality/Aging	51601	LIPT1	OMIM:616299
HP:0040006	Mortality/Aging	54931	TRMT10C	OMIM:616974
HP:0040006	Mortality/Aging	79631	EFL1	OMIM:617941
HP:0040006	Mortality/Aging	5660	PSAP	ORPHA:139406
HP:0040006	Mortality/Aging	5660	PSAP	OMIM:611721
HP:0040006	Mortality/Aging	5660	PSAP	OMIM:611722
HP:0040006	Mortality/Aging	29968	PSAT1	OMIM:610992
HP:0040006	Mortality/Aging	145873	MESP2	OMIM:277300
HP:0040006	Mortality/Aging	10683	DLL3	OMIM:277300
HP:0040006	Mortality/Aging	4952	OCRL	ORPHA:534
HP:0040006	Mortality/Aging	56975	FAM20C	OMIM:259775
HP:0040006	Mortality/Aging	170302	ARX	ORPHA:452
HP:0040006	Mortality/Aging	5980	REV3L	ORPHA:570
HP:0040006	Mortality/Aging	23129	PLXND1	ORPHA:570
HP:0040006	Mortality/Aging	4703	NEB	OMIM:619334
HP:0040006	Mortality/Aging	537	ATP6AP1	OMIM:300972
HP:0040006	Mortality/Aging	25915	NDUFAF3	OMIM:618240
HP:0040006	Mortality/Aging	4998	ORC1	OMIM:224690
HP:0040006	Mortality/Aging	7019	TFAM	OMIM:617156
HP:0040006	Mortality/Aging	2068	ERCC2	ORPHA:1466
HP:0040006	Mortality/Aging	2068	ERCC2	OMIM:601675
HP:0040006	Mortality/Aging	2067	ERCC1	ORPHA:1466
HP:0040006	Mortality/Aging	2074	ERCC6	ORPHA:1466
HP:0040006	Mortality/Aging	2073	ERCC5	ORPHA:1466
HP:0040006	Mortality/Aging	7965	AIMP2	OMIM:618006
HP:0040006	Mortality/Aging	80746	TSEN2	OMIM:612389
HP:0040006	Mortality/Aging	2917	GRM7	OMIM:618922
HP:0040006	Mortality/Aging	22845	DOLK	OMIM:610768
HP:0040006	Mortality/Aging	64093	SMOC1	ORPHA:1106
HP:0040006	Mortality/Aging	197131	UBR1	ORPHA:2315
HP:0040006	Mortality/Aging	6821	SUOX	OMIM:272300
HP:0040006	Mortality/Aging	1641	DCX	OMIM:300067
HP:0040006	Mortality/Aging	6329	SCN4A	ORPHA:682
HP:0040006	Mortality/Aging	26276	VPS33B	OMIM:208085
HP:0040006	Mortality/Aging	5631	PRPS1	OMIM:301835
HP:0040006	Mortality/Aging	3977	LIFR	OMIM:601559
HP:0040006	Mortality/Aging	4905	NSF	OMIM:619340
HP:0040006	Mortality/Aging	5277	PIGA	OMIM:300868
HP:0040006	Mortality/Aging	57511	COG6	OMIM:614576
HP:0040006	Mortality/Aging	9971	NR1H4	OMIM:617049
HP:0040006	Mortality/Aging	9419	CRIPT	OMIM:615789
HP:0040006	Mortality/Aging	2313	FLI1	ORPHA:2308
HP:0040006	Mortality/Aging	60386	SLC25A19	ORPHA:99742
HP:0040006	Mortality/Aging	8200	GDF5	OMIM:200700
HP:0040006	Mortality/Aging	8200	GDF5	ORPHA:2098
HP:0040006	Mortality/Aging	9997	SCO2	OMIM:604377
HP:0040006	Mortality/Aging	7490	WT1	OMIM:608978
HP:0040006	Mortality/Aging	80347	COASY	OMIM:618266
HP:0040006	Mortality/Aging	51241	COX16	OMIM:619355
HP:0040006	Mortality/Aging	37	ACADVL	OMIM:201475
HP:0040006	Mortality/Aging	3852	KRT5	OMIM:619599
HP:0040006	Mortality/Aging	1861	TOR1A	OMIM:618947
HP:0040006	Mortality/Aging	29957	SLC25A24	OMIM:612289
HP:0040006	Mortality/Aging	8087	FXR1	OMIM:618822
HP:0040006	Mortality/Aging	3704	ITPA	OMIM:616647
HP:0040006	Mortality/Aging	6608	SMO	OMIM:241800
HP:0040006	Mortality/Aging	658	BMPR1B	ORPHA:2098
HP:0040006	Mortality/Aging	3425	IDUA	ORPHA:93473
HP:0040006	Mortality/Aging	51360	MBTPS2	OMIM:308205
HP:0040006	Mortality/Aging	8567	MADD	OMIM:619004
HP:0040006	Mortality/Aging	291	SLC25A4	OMIM:617184
HP:0040006	Mortality/Aging	60528	ELAC2	OMIM:615440
HP:0040006	Mortality/Aging	55278	QRSL1	OMIM:618835
HP:0040006	Mortality/Aging	7284	TUFM	OMIM:610678
HP:0040006	Mortality/Aging	4645	MYO5B	OMIM:251850
HP:0040006	Mortality/Aging	283459	GATC	OMIM:618839
HP:0040006	Mortality/Aging	1376	CPT2	OMIM:608836
HP:0040006	Mortality/Aging	57158	JPH2	OMIM:619492
HP:0040006	Mortality/Aging	6123	RPL3L	OMIM:619371
HP:0040006	Mortality/Aging	10577	NPC2	OMIM:607625
HP:0040006	Mortality/Aging	1836	SLC26A2	OMIM:256050
HP:0040006	Mortality/Aging	5889	RAD51C	OMIM:613390
HP:0040006	Mortality/Aging	57020	VPS35L	OMIM:619135
HP:0040006	Mortality/Aging	57020	VPS35L	ORPHA:7
HP:0040006	Mortality/Aging	29954	POMT2	OMIM:613150
HP:0040006	Mortality/Aging	4938	OAS1	OMIM:618042
HP:0040006	Mortality/Aging	27040	LAT	OMIM:617514
HP:0040006	Mortality/Aging	4724	NDUFS4	OMIM:252010
HP:0040006	Mortality/Aging	10491	CRTAP	OMIM:610682
HP:0040006	Mortality/Aging	55005	RMND1	OMIM:614922
HP:0040006	Mortality/Aging	55191	NADSYN1	OMIM:618845
HP:0040006	Mortality/Aging	10225	CD96	ORPHA:1308
HP:0040006	Mortality/Aging	9939	RBM8A	OMIM:274000
HP:0040006	Mortality/Aging	23529	CLCF1	ORPHA:1545
HP:0040006	Mortality/Aging	9244	CRLF1	ORPHA:1545
HP:0040006	Mortality/Aging	9897	WASHC5	ORPHA:7
HP:0040006	Mortality/Aging	28952	CCDC22	ORPHA:7
HP:0040006	Mortality/Aging	56896	DPYSL5	ORPHA:7
HP:0040006	Mortality/Aging	9054	NFS1	OMIM:619386
HP:0040006	Mortality/Aging	4893	NRAS	OMIM:249400
HP:0040006	Mortality/Aging	221927	BRAT1	OMIM:614498
HP:0040006	Mortality/Aging	131377	KLHL40	OMIM:615348
HP:0040006	Mortality/Aging	255758	DYNLT2B	OMIM:617405
HP:0040006	Mortality/Aging	2294	FOXF1	OMIM:265380
HP:0040006	Mortality/Aging	23019	CNOT1	OMIM:618500
HP:0040006	Mortality/Aging	8506	CNTNAP1	OMIM:618186
HP:0040006	Mortality/Aging	8496	PPFIBP1	OMIM:620024
HP:0040006	Mortality/Aging	64220	STRA6	OMIM:601186
HP:0040006	Mortality/Aging	80222	TARS2	OMIM:615918
HP:0040006	Mortality/Aging	2317	FLNB	OMIM:112310
HP:0040006	Mortality/Aging	2317	FLNB	OMIM:108720
HP:0040006	Mortality/Aging	6392	SDHD	OMIM:619167
HP:0040006	Mortality/Aging	4726	NDUFS6	OMIM:618232
HP:0040006	Mortality/Aging	30008	EFEMP2	OMIM:614437
HP:0040006	Mortality/Aging	29078	NDUFAF4	OMIM:618237
HP:0040006	Mortality/Aging	5915	RARB	OMIM:615524
HP:0040006	Mortality/Aging	2733	GLE1	OMIM:253310
HP:0040006	Mortality/Aging	2733	GLE1	OMIM:611890
HP:0040006	Mortality/Aging	5358	PLS3	OMIM:306950
HP:0040006	Mortality/Aging	54539	NDUFB11	OMIM:301021
HP:0040006	Mortality/Aging	10606	PAICS	OMIM:619859
HP:0040006	Mortality/Aging	439	GET3	OMIM:620203
HP:0040006	Mortality/Aging	1509	CTSD	OMIM:610127
HP:0040006	Mortality/Aging	1910	EDNRB	OMIM:600501
HP:0040006	Mortality/Aging	55210	ATAD3A	OMIM:618810
HP:0040006	Mortality/Aging	4338	MOCS2	OMIM:252160
HP:0040006	Mortality/Aging	51021	MRPS16	OMIM:610498
HP:0040006	Mortality/Aging	2752	GLUL	OMIM:610015
HP:0040006	Mortality/Aging	2737	GLI3	OMIM:146510
HP:0040006	Mortality/Aging	29980	DONSON	OMIM:251230
HP:0040006	Mortality/Aging	26227	PHGDH	OMIM:256520
HP:0040006	Mortality/Aging	6862	TBXT	OMIM:615709
HP:0040006	Mortality/Aging	8241	RBM10	OMIM:311900
HP:0040006	Mortality/Aging	3572	IL6ST	OMIM:619751
HP:0040006	Mortality/Aging	5314	PKHD1	OMIM:263200
HP:0040006	Mortality/Aging	55165	CEP55	OMIM:236500
HP:0040006	Mortality/Aging	4927	NUP88	OMIM:618393
HP:0040006	Mortality/Aging	7547	ZIC3	OMIM:314390
HP:0040006	Mortality/Aging	2571	GAD1	OMIM:619124
HP:0040006	Mortality/Aging	4716	NDUFB10	OMIM:619003
HP:0040006	Mortality/Aging	27031	NPHP3	OMIM:208540
HP:0040006	Mortality/Aging	23396	PIP5K1C	OMIM:611369
HP:0040006	Mortality/Aging	617	BCS1L	OMIM:124000
HP:0040006	Mortality/Aging	3930	LBR	OMIM:215140
HP:0040006	Mortality/Aging	79989	IFT56	OMIM:619534
HP:0040006	Mortality/Aging	442721	LMOD2	OMIM:619897
HP:0040006	Mortality/Aging	3655	ITGA6	OMIM:619817
HP:0040006	Mortality/Aging	10269	ZMPSTE24	OMIM:275210
HP:0040006	Mortality/Aging	55901	THSD1	OMIM:620244
HP:0040006	Mortality/Aging	1832	DSP	OMIM:609638
HP:0040006	Mortality/Aging	10243	GPHN	OMIM:615501
HP:0040006	Mortality/Aging	27152	INTU	OMIM:617925
HP:0040006	Mortality/Aging	498	ATP5F1A	OMIM:615228
HP:0040006	Mortality/Aging	29969	MDFIC	OMIM:620014
HP:0040006	Mortality/Aging	2110	ETFDH	OMIM:231680
HP:0040006	Mortality/Aging	2108	ETFA	OMIM:231680
HP:0040006	Mortality/Aging	2109	ETFB	OMIM:231680
HP:0040006	Mortality/Aging	1738	DLD	OMIM:246900
HP:0040006	Mortality/Aging	374291	NDUFS7	OMIM:618224
HP:0040006	Mortality/Aging	4723	NDUFV1	OMIM:618225
HP:0040006	Mortality/Aging	4574	MT-TS1	OMIM:220110
HP:0040006	Mortality/Aging	4570	MT-TN	OMIM:220110
HP:0040006	Mortality/Aging	6834	SURF1	OMIM:220110
HP:0040006	Mortality/Aging	201595	STT3B	OMIM:615597
HP:0040006	Mortality/Aging	55505	NOP10	OMIM:620425
HP:0040006	Mortality/Aging	51412	ACTL6B	OMIM:618468
HP:0040006	Mortality/Aging	4967	OGDH	OMIM:203740
HP:0040006	Mortality/Aging	55610	VPS50	OMIM:619685
HP:0040006	Mortality/Aging	3074	HEXB	OMIM:268800
HP:0040006	Mortality/Aging	23149	FCHO1	OMIM:619164
HP:0040006	Mortality/Aging	1841	DTYMK	OMIM:619847
HP:0040006	Mortality/Aging	790	CAD	OMIM:616457
HP:0040006	Mortality/Aging	65082	VPS33A	OMIM:617303
HP:0040006	Mortality/Aging	157922	CAMSAP1	OMIM:620316
HP:0040006	Mortality/Aging	79158	GNPTAB	OMIM:252500
HP:0040006	Mortality/Aging	79068	FTO	OMIM:612938
HP:0040006	Mortality/Aging	4784	NFIX	OMIM:602535
HP:0040006	Mortality/Aging	8647	ABCB11	OMIM:601847
HP:0040006	Mortality/Aging	60561	RINT1	OMIM:618641
HP:0040006	Mortality/Aging	7084	TK2	OMIM:609560
HP:0040006	Mortality/Aging	23229	ARHGEF9	OMIM:300607
HP:0040006	Mortality/Aging	8772	FADD	OMIM:613759
HP:0040006	Mortality/Aging	3913	LAMB2	OMIM:609049
HP:0040006	Mortality/Aging	6606	SMN1	OMIM:253300
HP:0040006	Mortality/Aging	91647	ATPAF2	OMIM:604273
HP:0040006	Mortality/Aging	27316	RBMX	OMIM:309555
HP:0040006	Mortality/Aging	3155	HMGCL	OMIM:246450
HP:0040006	Mortality/Aging	22872	SEC31A	OMIM:618651
HP:0040006	Mortality/Aging	497661	C18orf32	OMIM:619985
HP:0040006	Mortality/Aging	64121	RRAGC	OMIM:620609
HP:0040006	Mortality/Aging	51300	TIMMDC1	OMIM:618251
HP:0040006	Mortality/Aging	7174	TPP2	OMIM:619220
HP:0040006	Mortality/Aging	4714	NDUFB8	OMIM:618252
HP:0040006	Mortality/Aging	6785	ELOVL4	OMIM:614457
HP:0040006	Mortality/Aging	113278	SLC52A3	OMIM:211530
HP:0040006	Mortality/Aging	11340	EXOSC8	OMIM:616081
HP:0040006	Mortality/Aging	84879	MFSD2A	OMIM:616486
HP:0040006	Mortality/Aging	11222	MRPL3	OMIM:614582
HP:0040006	Mortality/Aging	1182	CLCN3	OMIM:619517
HP:0040006	Mortality/Aging	538	ATP7A	OMIM:309400
HP:0040006	Mortality/Aging	90624	LYRM7	OMIM:615838
HP:0040006	Mortality/Aging	79751	SLC25A22	OMIM:609304
HP:0040006	Mortality/Aging	374354	NHLRC2	OMIM:618278
HP:0040006	Mortality/Aging	128240	NAXE	OMIM:617186
HP:0040006	Mortality/Aging	10651	MTX2	OMIM:619127
HP:0040006	Mortality/Aging	84340	GFM2	OMIM:618397
HP:0040006	Mortality/Aging	5788	PTPRC	OMIM:619924
HP:0040006	Mortality/Aging	440138	ALG11	OMIM:613661
HP:0040006	Mortality/Aging	57038	RARS2	OMIM:611523
HP:0040006	Mortality/Aging	4351	MPI	OMIM:602579
HP:0040006	Mortality/Aging	9342	SNAP29	OMIM:609528
HP:0040006	Mortality/Aging	5873	RAB27A	OMIM:607624
HP:0040006	Mortality/Aging	1736	DKC1	OMIM:301108
HP:0040006	Mortality/Aging	55739	NAXD	OMIM:618321
HP:0040006	Mortality/Aging	5331	PLCB3	OMIM:618961
HP:0040006	Mortality/Aging	6324	SCN1B	OMIM:617350
HP:0040006	Mortality/Aging	26503	SLC17A5	OMIM:269920
HP:0040006	Mortality/Aging	9197	SLC33A1	OMIM:614482
HP:0040006	Mortality/Aging	79147	FKRP	OMIM:613153
HP:0040006	Mortality/Aging	111	ADCY5	OMIM:619651
HP:0040006	Mortality/Aging	84833	ATP5MK	OMIM:618683
HP:0040006	Mortality/Aging	29960	MRM2	OMIM:618567
HP:0040006	Mortality/Aging	25913	POT1	OMIM:620368
HP:0040006	Mortality/Aging	84153	RNASEH2C	OMIM:610329
HP:0040006	Mortality/Aging	3735	KARS1	OMIM:619147
HP:0040006	Mortality/Aging	10533	ATG7	OMIM:619422
HP:0040006	Mortality/Aging	56947	MFF	OMIM:617086
HP:0040006	Mortality/Aging	18	ABAT	OMIM:613163
HP:0040006	Mortality/Aging	10535	RNASEH2A	OMIM:610333
HP:0040006	Mortality/Aging	871	SERPINH1	OMIM:613848
HP:0040006	Mortality/Aging	1280	COL2A1	OMIM:151210
HP:0040006	Mortality/Aging	1280	COL2A1	OMIM:200610
HP:0040006	Mortality/Aging	4593	MUSK	OMIM:208150
HP:0040006	Mortality/Aging	153241	CEP120	OMIM:616300
HP:0040006	Mortality/Aging	50814	NSDHL	OMIM:308050
HP:0040006	Mortality/Aging	284086	NEK8	OMIM:615415
HP:0040006	Mortality/Aging	1063	CENPF	OMIM:243605
HP:0040006	Mortality/Aging	219844	HYLS1	OMIM:236680
HP:0040006	Mortality/Aging	5745	PTH1R	OMIM:215045
HP:0040006	Mortality/Aging	5447	POR	ORPHA:95699
HP:0040006	Mortality/Aging	28962	OSTM1	OMIM:259720
HP:0040006	Mortality/Aging	157570	ESCO2	OMIM:268300
HP:0040006	Mortality/Aging	10203	CALCRL	OMIM:618773
HP:0040006	Mortality/Aging	5307	PITX1	OMIM:119800
HP:0040006	Mortality/Aging	1301	COL11A1	OMIM:228520
HP:0040006	Mortality/Aging	2316	FLNA	OMIM:309350
HP:0040006	Mortality/Aging	2316	FLNA	OMIM:304120
HP:0040006	Mortality/Aging	163175	LGI4	OMIM:617468
HP:0040006	Mortality/Aging	23169	SLC35D1	OMIM:269250
HP:0040006	Mortality/Aging	4352	MPL	ORPHA:71493
HP:0040006	Mortality/Aging	7066	THPO	ORPHA:71493
HP:0040006	Mortality/Aging	3717	JAK2	ORPHA:71493
HP:0040006	Mortality/Aging	2215	FCGR3B	ORPHA:464370
HP:0040006	Mortality/Aging	2022	ENG	OMIM:187300
HP:0040006	Mortality/Aging	199713	NLRP7	OMIM:231090
HP:0040006	Mortality/Aging	4256	MGP	OMIM:245150
HP:0040006	Mortality/Aging	283677	REC114	OMIM:619176
HP:0040006	Mortality/Aging	7468	NSD2	OMIM:619695
HP:0040006	Mortality/Aging	3043	HBB	ORPHA:2133
HP:0040006	Mortality/Aging	5346	PLIN1	OMIM:613877
HP:0040006	Mortality/Aging	462	SERPINC1	ORPHA:82
HP:0040006	Mortality/Aging	2055	CLN8	ORPHA:1947
HP:0040006	Mortality/Aging	7486	WRN	ORPHA:902
HP:0040006	Mortality/Aging	274	BIN1	ORPHA:169189
HP:0040006	Mortality/Aging	64419	MTMR14	ORPHA:169189
HP:0040006	Mortality/Aging	4618	MYF6	ORPHA:169189
HP:0040006	Mortality/Aging	6261	RYR1	ORPHA:169189
HP:0040006	Mortality/Aging	3209	HOXA13	ORPHA:2438
HP:0040006	Mortality/Aging	5054	SERPINE1	ORPHA:465
HP:0040006	Mortality/Aging	213	ALB	ORPHA:86816
HP:0040006	Mortality/Aging	388015	RTL1	ORPHA:96334
HP:0040006	Mortality/Aging	8788	DLK1	ORPHA:96334
HP:0040006	Mortality/Aging	55384	MEG3	ORPHA:96334
HP:0040006	Mortality/Aging	6005	RHAG	ORPHA:71275
HP:0040006	Mortality/Aging	6006	RHCE	ORPHA:71275
HP:0040006	Mortality/Aging	6007	RHD	ORPHA:71275
HP:0040006	Mortality/Aging	1351	COX8A	OMIM:619059
HP:0040006	Mortality/Aging	149371	EXOC8	OMIM:619076
HP:0040006	Mortality/Aging	10892	MALT1	OMIM:615468
HP:0040006	Mortality/Aging	2273	FHL1	OMIM:300717
HP:0040006	Mortality/Aging	88	ACTN2	OMIM:612158
HP:0040006	Mortality/Aging	6304	SATB1	OMIM:619229
HP:0040006	Mortality/Aging	5696	PSMB8	OMIM:256040
HP:0040006	Mortality/Aging	2072	ERCC4	OMIM:610965
HP:0040006	Mortality/Aging	50964	SOST	OMIM:122860
HP:0040006	Mortality/Aging	4624	MYH6	OMIM:613251
HP:0040006	Mortality/Aging	7137	TNNI3	OMIM:613286
HP:0040006	Mortality/Aging	60	ACTB	ORPHA:79107
HP:0040006	Mortality/Aging	27183	VPS4A	OMIM:619273
HP:0040006	Mortality/Aging	351	APP	ORPHA:100006
HP:0040006	Mortality/Aging	1471	CST3	ORPHA:100008
HP:0040006	Mortality/Aging	6804	STX1A	ORPHA:904
HP:0040006	Mortality/Aging	7461	CLIP2	ORPHA:904
HP:0040006	Mortality/Aging	84277	DNAJC30	ORPHA:904
HP:0040006	Mortality/Aging	8468	FKBP6	ORPHA:904
HP:0040006	Mortality/Aging	5982	RFC2	ORPHA:904
HP:0040006	Mortality/Aging	2969	GTF2I	ORPHA:904
HP:0040006	Mortality/Aging	3984	LIMK1	ORPHA:904
HP:0040006	Mortality/Aging	9569	GTF2IRD1	ORPHA:904
HP:0040006	Mortality/Aging	155382	VPS37D	ORPHA:904
HP:0040006	Mortality/Aging	155368	METTL27	ORPHA:904
HP:0040006	Mortality/Aging	114049	BUD23	ORPHA:904
HP:0040006	Mortality/Aging	7458	EIF4H	ORPHA:904
HP:0040006	Mortality/Aging	84163	GTF2IRD2	ORPHA:904
HP:0040006	Mortality/Aging	26608	TBL2	ORPHA:904
HP:0040006	Mortality/Aging	653361	NCF1	ORPHA:904
HP:0040006	Mortality/Aging	135886	TMEM270	ORPHA:904
HP:0040006	Mortality/Aging	9031	BAZ1B	ORPHA:904
HP:0040006	Mortality/Aging	2006	ELN	ORPHA:904
HP:0040006	Mortality/Aging	4625	MYH7	OMIM:255160
HP:0040006	Mortality/Aging	1890	TYMP	OMIM:603041
HP:0040006	Mortality/Aging	5428	POLG	OMIM:603041
HP:0040006	Mortality/Aging	11128	POLR3A	OMIM:607694
HP:0040006	Mortality/Aging	55703	POLR3B	OMIM:607694
HP:0040008	Aplasia of facial bones	1896	EDA	OMIM:313500
HP:0040008	Aplasia of facial bones	7050	TGIF1	OMIM:142946
HP:0040008	Aplasia of facial bones	6496	SIX3	OMIM:157170
HP:0004887	Respiratory failure requiring assisted ventilation	4534	MTM1	ORPHA:596
HP:0004887	Respiratory failure requiring assisted ventilation	4534	MTM1	OMIM:310400
HP:0004887	Respiratory failure requiring assisted ventilation	6904	TBCD	ORPHA:496641
HP:0004887	Respiratory failure requiring assisted ventilation	79158	GNPTAB	ORPHA:576
HP:0004887	Respiratory failure requiring assisted ventilation	9997	SCO2	OMIM:604377
HP:0004887	Respiratory failure requiring assisted ventilation	590	BCHE	ORPHA:132
HP:0004887	Respiratory failure requiring assisted ventilation	1439	CSF2RB	ORPHA:264675
HP:0004887	Respiratory failure requiring assisted ventilation	1438	CSF2RA	ORPHA:264675
HP:0004887	Respiratory failure requiring assisted ventilation	6609	SMPD1	ORPHA:77293
HP:0004887	Respiratory failure requiring assisted ventilation	4629	MYH11	OMIM:619351
HP:0004887	Respiratory failure requiring assisted ventilation	5631	PRPS1	ORPHA:1187
HP:0004887	Respiratory failure requiring assisted ventilation	2653	GCSH	OMIM:620423
HP:0004887	Respiratory failure requiring assisted ventilation	58	ACTA1	OMIM:620265
HP:0004887	Respiratory failure requiring assisted ventilation	415	ARSL	ORPHA:79345
HP:0004887	Respiratory failure requiring assisted ventilation	283989	TSEN54	ORPHA:166063
HP:0004887	Respiratory failure requiring assisted ventilation	4556	MT-TE	ORPHA:254864
HP:0004887	Respiratory failure requiring assisted ventilation	55687	TRMU	ORPHA:254864
HP:0004887	Respiratory failure requiring assisted ventilation	84842	HPDL	OMIM:619026
HP:0004887	Respiratory failure requiring assisted ventilation	2548	GAA	ORPHA:308552
HP:0004887	Respiratory failure requiring assisted ventilation	91137	SLC25A46	OMIM:619303
HP:0004887	Respiratory failure requiring assisted ventilation	27245	AHDC1	ORPHA:412069
HP:0004887	Respiratory failure requiring assisted ventilation	1806	DPYD	ORPHA:1675
HP:0004887	Respiratory failure requiring assisted ventilation	10342	TFG	ORPHA:90117
HP:0004887	Respiratory failure requiring assisted ventilation	284184	NDUFAF8	OMIM:618776
HP:0004887	Respiratory failure requiring assisted ventilation	113278	SLC52A3	OMIM:211530
HP:0004887	Respiratory failure requiring assisted ventilation	3156	HMGCR	OMIM:620375
HP:0004887	Respiratory failure requiring assisted ventilation	84172	POLR1B	OMIM:618939
HP:0004887	Respiratory failure requiring assisted ventilation	79736	TEFM	OMIM:620451
HP:0004887	Respiratory failure requiring assisted ventilation	7187	TRAF3	ORPHA:1930
HP:0004887	Respiratory failure requiring assisted ventilation	81622	UNC93B1	ORPHA:1930
HP:0004887	Respiratory failure requiring assisted ventilation	148022	TICAM1	ORPHA:1930
HP:0004887	Respiratory failure requiring assisted ventilation	7098	TLR3	ORPHA:1930
HP:0004887	Respiratory failure requiring assisted ventilation	29110	TBK1	ORPHA:1930
HP:0004887	Respiratory failure requiring assisted ventilation	7084	TK2	ORPHA:254875
HP:0004887	Respiratory failure requiring assisted ventilation	210	ALAD	ORPHA:100924
HP:0004887	Respiratory failure requiring assisted ventilation	3508	IGHMBP2	OMIM:604320
HP:0004887	Respiratory failure requiring assisted ventilation	5557	PRIM1	OMIM:620005
HP:0004887	Respiratory failure requiring assisted ventilation	139818	DOCK11	OMIM:301109
HP:0004887	Respiratory failure requiring assisted ventilation	11274	USP18	OMIM:617397
HP:0004885	Episodic respiratory distress	4535	MT-ND1	ORPHA:255210
HP:0004885	Episodic respiratory distress	4536	MT-ND2	ORPHA:255210
HP:0004885	Episodic respiratory distress	4537	MT-ND3	ORPHA:255210
HP:0004885	Episodic respiratory distress	4538	MT-ND4	ORPHA:255210
HP:0004885	Episodic respiratory distress	4567	MT-TL1	ORPHA:255210
HP:0004885	Episodic respiratory distress	4578	MT-TW	ORPHA:255210
HP:0004885	Episodic respiratory distress	4577	MT-TV	ORPHA:255210
HP:0004885	Episodic respiratory distress	4508	MT-ATP6	ORPHA:255210
HP:0004885	Episodic respiratory distress	4540	MT-ND5	ORPHA:255210
HP:0004885	Episodic respiratory distress	4541	MT-ND6	ORPHA:255210
HP:0004885	Episodic respiratory distress	4566	MT-TK	ORPHA:255210
HP:0004885	Episodic respiratory distress	60482	SLC5A7	ORPHA:98914
HP:0004885	Episodic respiratory distress	4649	MYO9A	ORPHA:98914
HP:0004885	Episodic respiratory distress	1305	COL13A1	ORPHA:98914
HP:0004885	Episodic respiratory distress	1103	CHAT	ORPHA:98914
HP:0004885	Episodic respiratory distress	6576	SLC25A1	ORPHA:98914
HP:0004885	Episodic respiratory distress	6843	VAMP1	ORPHA:98914
HP:0004885	Episodic respiratory distress	375790	AGRN	ORPHA:98914
HP:0004885	Episodic respiratory distress	127833	SYT2	ORPHA:98914
HP:0004885	Episodic respiratory distress	6572	SLC18A3	ORPHA:98914
HP:0004885	Episodic respiratory distress	6616	SNAP25	ORPHA:98914
HP:0004886	Congenital laryngeal stridor	11340	EXOSC8	ORPHA:2254
HP:0004886	Congenital laryngeal stridor	5393	EXOSC9	ORPHA:2254
HP:0004886	Congenital laryngeal stridor	23287	AGTPBP1	ORPHA:2254
HP:0004886	Congenital laryngeal stridor	51010	EXOSC3	ORPHA:2254
HP:0004886	Congenital laryngeal stridor	7443	VRK1	ORPHA:2254
HP:0004886	Congenital laryngeal stridor	91137	SLC25A46	ORPHA:2254
HP:0004886	Congenital laryngeal stridor	5354	PLP1	OMIM:312080
HP:0004886	Congenital laryngeal stridor	23114	NFASC	OMIM:618356
HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	1134	CHRNA1	OMIM:601462
HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	57190	SELENON	ORPHA:324604
HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	4625	MYH7	ORPHA:324604
HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	7273	TTN	ORPHA:324604
HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	60482	SLC5A7	ORPHA:98914
HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	4649	MYO9A	ORPHA:98914
HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	1305	COL13A1	ORPHA:98914
HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	1103	CHAT	ORPHA:98914
HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	6576	SLC25A1	ORPHA:98914
HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	6843	VAMP1	ORPHA:98914
HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	375790	AGRN	ORPHA:98914
HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	127833	SYT2	ORPHA:98914
HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	6572	SLC18A3	ORPHA:98914
HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	6616	SNAP25	ORPHA:98914
HP:0040007	Absent pigmentation of chest	3815	KIT	OMIM:172800
HP:0040009	Hyperparakeratosis	5290	PIK3CA	ORPHA:276280
HP:0040009	Hyperparakeratosis	3860	KRT13	OMIM:615785
HP:0040009	Hyperparakeratosis	3858	KRT10	OMIM:607602
HP:0040009	Hyperparakeratosis	162514	TRPV3	OMIM:614594
HP:0001631	Atrial septal defect	8036	SHOC2	OMIM:607721
HP:0001631	Atrial septal defect	10617	STAMBP	OMIM:614261
HP:0001631	Atrial septal defect	26235	FBXL4	OMIM:615471
HP:0001631	Atrial septal defect	6910	TBX5	ORPHA:392
HP:0001631	Atrial septal defect	6910	TBX5	OMIM:142900
HP:0001631	Atrial septal defect	8216	LZTR1	OMIM:616564
HP:0001631	Atrial septal defect	8216	LZTR1	ORPHA:648
HP:0001631	Atrial septal defect	8216	LZTR1	OMIM:605275
HP:0001631	Atrial septal defect	91754	NEK9	OMIM:614262
HP:0001631	Atrial septal defect	4750	NEK1	OMIM:263520
HP:0001631	Atrial septal defect	23334	SZT2	OMIM:615476
HP:0001631	Atrial septal defect	6016	RIT1	OMIM:615355
HP:0001631	Atrial septal defect	6016	RIT1	ORPHA:648
HP:0001631	Atrial septal defect	9231	DLG5	OMIM:620703
HP:0001631	Atrial septal defect	4625	MYH7	ORPHA:1880
HP:0001631	Atrial septal defect	81857	MED25	OMIM:616449
HP:0001631	Atrial septal defect	81857	MED25	ORPHA:464738
HP:0001631	Atrial septal defect	5927	KDM5A	OMIM:620820
HP:0001631	Atrial septal defect	1788	DNMT3A	ORPHA:404443
HP:0001631	Atrial septal defect	1788	DNMT3A	OMIM:615879
HP:0001631	Atrial septal defect	1131	CHRM3	ORPHA:2970
HP:0001631	Atrial septal defect	64220	STRA6	OMIM:601186
HP:0001631	Atrial septal defect	3190	HNRNPK	ORPHA:453504
HP:0001631	Atrial septal defect	3190	HNRNPK	ORPHA:352665
HP:0001631	Atrial septal defect	10743	RAI1	ORPHA:477817
HP:0001631	Atrial septal defect	197131	UBR1	OMIM:243800
HP:0001631	Atrial septal defect	23498	HAAO	OMIM:617660
HP:0001631	Atrial septal defect	3020	H3-3A	OMIM:619720
HP:0001631	Atrial septal defect	3021	H3-3B	OMIM:619721
HP:0001631	Atrial septal defect	2050	EPHB4	OMIM:617300
HP:0001631	Atrial septal defect	70	ACTC1	OMIM:612098
HP:0001631	Atrial septal defect	55790	CSGALNACT1	OMIM:618870
HP:0001631	Atrial septal defect	65082	VPS33A	OMIM:617303
HP:0001631	Atrial septal defect	65082	VPS33A	ORPHA:505248
HP:0001631	Atrial septal defect	2201	FBN2	OMIM:121050
HP:0001631	Atrial septal defect	4149	MAX	OMIM:620712
HP:0001631	Atrial septal defect	10084	PQBP1	ORPHA:93946
HP:0001631	Atrial septal defect	10084	PQBP1	ORPHA:93947
HP:0001631	Atrial septal defect	10084	PQBP1	OMIM:309500
HP:0001631	Atrial septal defect	9968	MED12	ORPHA:2728
HP:0001631	Atrial septal defect	9968	MED12	ORPHA:93932
HP:0001631	Atrial septal defect	9968	MED12	OMIM:301068
HP:0001631	Atrial septal defect	9968	MED12	ORPHA:776
HP:0001631	Atrial septal defect	9968	MED12	OMIM:309520
HP:0001631	Atrial septal defect	2132	EXT2	ORPHA:466926
HP:0001631	Atrial septal defect	28960	DCPS	OMIM:616459
HP:0001631	Atrial septal defect	9200	HACD1	OMIM:619967
HP:0001631	Atrial septal defect	23384	SPECC1L	ORPHA:1519
HP:0001631	Atrial septal defect	23384	SPECC1L	OMIM:145420
HP:0001631	Atrial septal defect	7086	TKT	ORPHA:488618
HP:0001631	Atrial septal defect	7086	TKT	OMIM:617044
HP:0001631	Atrial septal defect	57231	SNX14	ORPHA:397709
HP:0001631	Atrial septal defect	2188	FANCF	OMIM:603467
HP:0001631	Atrial septal defect	2188	FANCF	ORPHA:84
HP:0001631	Atrial septal defect	2626	GATA4	OMIM:607941
HP:0001631	Atrial septal defect	2626	GATA4	OMIM:614429
HP:0001631	Atrial septal defect	284058	KANSL1	ORPHA:363958
HP:0001631	Atrial septal defect	284058	KANSL1	OMIM:610443
HP:0001631	Atrial septal defect	284058	KANSL1	ORPHA:363965
HP:0001631	Atrial septal defect	2261	FGFR3	ORPHA:1860
HP:0001631	Atrial septal defect	2261	FGFR3	ORPHA:93274
HP:0001631	Atrial septal defect	7994	KAT6A	ORPHA:457193
HP:0001631	Atrial septal defect	7994	KAT6A	OMIM:616268
HP:0001631	Atrial septal defect	55109	AGGF1	ORPHA:90308
HP:0001631	Atrial septal defect	5290	PIK3CA	ORPHA:90308
HP:0001631	Atrial septal defect	64359	NXN	ORPHA:1507
HP:0001631	Atrial septal defect	4920	ROR2	ORPHA:1507
HP:0001631	Atrial septal defect	4313	MMP2	ORPHA:371428
HP:0001631	Atrial septal defect	4323	MMP14	ORPHA:371428
HP:0001631	Atrial septal defect	5566	PRKACA	ORPHA:289
HP:0001631	Atrial septal defect	5567	PRKACB	ORPHA:289
HP:0001631	Atrial septal defect	2735	GLI1	ORPHA:289
HP:0001631	Atrial septal defect	2121	EVC	ORPHA:289
HP:0001631	Atrial septal defect	2121	EVC	OMIM:225500
HP:0001631	Atrial septal defect	51626	DYNC2LI1	ORPHA:289
HP:0001631	Atrial septal defect	132884	EVC2	ORPHA:289
HP:0001631	Atrial septal defect	132884	EVC2	OMIM:225500
HP:0001631	Atrial septal defect	10815	CPLX1	ORPHA:280
HP:0001631	Atrial septal defect	10815	CPLX1	OMIM:194190
HP:0001631	Atrial septal defect	54872	PIGG	ORPHA:280
HP:0001631	Atrial septal defect	7469	NELFA	ORPHA:280
HP:0001631	Atrial septal defect	1487	CTBP1	ORPHA:280
HP:0001631	Atrial septal defect	1487	CTBP1	OMIM:194190
HP:0001631	Atrial septal defect	3954	LETM1	ORPHA:280
HP:0001631	Atrial septal defect	3954	LETM1	OMIM:194190
HP:0001631	Atrial septal defect	7468	NSD2	ORPHA:280
HP:0001631	Atrial septal defect	7468	NSD2	OMIM:194190
HP:0001631	Atrial septal defect	4763	NF1	ORPHA:363700
HP:0001631	Atrial septal defect	4763	NF1	OMIM:162200
HP:0001631	Atrial septal defect	22884	WDR37	OMIM:618652
HP:0001631	Atrial septal defect	833	CARS1	OMIM:618891
HP:0001631	Atrial septal defect	7092	TLL1	OMIM:613087
HP:0001631	Atrial septal defect	8550	MAPKAPK5	OMIM:619869
HP:0001631	Atrial septal defect	11193	WBP4	OMIM:620852
HP:0001631	Atrial septal defect	26040	SETBP1	OMIM:269150
HP:0001631	Atrial septal defect	2296	FOXC1	OMIM:602482
HP:0001631	Atrial septal defect	8241	RBM10	OMIM:311900
HP:0001631	Atrial septal defect	8241	RBM10	ORPHA:2886
HP:0001631	Atrial septal defect	5337	PLD1	OMIM:212093
HP:0001631	Atrial septal defect	1182	CLCN3	OMIM:619512
HP:0001631	Atrial septal defect	54539	NDUFB11	OMIM:309801
HP:0001631	Atrial septal defect	1349	COX7B	OMIM:309801
HP:0001631	Atrial septal defect	1349	COX7B	OMIM:300887
HP:0001631	Atrial septal defect	3052	HCCS	OMIM:309801
HP:0001631	Atrial septal defect	23126	POGZ	OMIM:616364
HP:0001631	Atrial septal defect	54914	FOCAD	OMIM:619991
HP:0001631	Atrial septal defect	8558	CDK10	OMIM:617694
HP:0001631	Atrial septal defect	51633	OTUD6B	OMIM:617452
HP:0001631	Atrial septal defect	51633	OTUD6B	ORPHA:505237
HP:0001631	Atrial septal defect	5604	MAP2K1	OMIM:615279
HP:0001631	Atrial septal defect	5604	MAP2K1	ORPHA:1340
HP:0001631	Atrial septal defect	5604	MAP2K1	OMIM:163950
HP:0001631	Atrial septal defect	6134	RPL10	ORPHA:459070
HP:0001631	Atrial septal defect	6134	RPL10	OMIM:300998
HP:0001631	Atrial septal defect	286	ANK1	ORPHA:251066
HP:0001631	Atrial septal defect	415	ARSL	ORPHA:79345
HP:0001631	Atrial septal defect	93986	FOXP2	ORPHA:251061
HP:0001631	Atrial septal defect	79796	ALG9	ORPHA:79328
HP:0001631	Atrial septal defect	79796	ALG9	OMIM:608776
HP:0001631	Atrial septal defect	7385	UQCRC2	OMIM:615160
HP:0001631	Atrial septal defect	7750	ZMYM2	OMIM:619522
HP:0001631	Atrial septal defect	10991	SLC38A3	OMIM:619881
HP:0001631	Atrial septal defect	9772	TMEM94	OMIM:618316
HP:0001631	Atrial septal defect	51341	ZBTB7A	OMIM:619769
HP:0001631	Atrial septal defect	7841	MOGS	ORPHA:79330
HP:0001631	Atrial septal defect	79728	PALB2	OMIM:610832
HP:0001631	Atrial septal defect	79728	PALB2	ORPHA:84
HP:0001631	Atrial septal defect	51163	DBR1	OMIM:620510
HP:0001631	Atrial septal defect	2316	FLNA	OMIM:304120
HP:0001631	Atrial septal defect	57724	EPG5	OMIM:242840
HP:0001631	Atrial septal defect	23556	PIGN	OMIM:614080
HP:0001631	Atrial septal defect	23556	PIGN	ORPHA:280633
HP:0001631	Atrial septal defect	2239	GPC4	ORPHA:373
HP:0001631	Atrial septal defect	2239	GPC4	OMIM:312870
HP:0001631	Atrial septal defect	2719	GPC3	ORPHA:373
HP:0001631	Atrial septal defect	2719	GPC3	OMIM:312870
HP:0001631	Atrial septal defect	285203	EOGT	OMIM:615297
HP:0001631	Atrial septal defect	54916	TMEM260	OMIM:617478
HP:0001631	Atrial septal defect	25836	NIPBL	OMIM:122470
HP:0001631	Atrial septal defect	25836	NIPBL	ORPHA:199
HP:0001631	Atrial septal defect	4087	SMAD2	OMIM:619657
HP:0001631	Atrial septal defect	1107	CHD3	OMIM:618205
HP:0001631	Atrial septal defect	3756	KCNH1	OMIM:611816
HP:0001631	Atrial septal defect	6138	RPL15	ORPHA:124
HP:0001631	Atrial septal defect	6224	RPS20	ORPHA:124
HP:0001631	Atrial septal defect	6165	RPL35A	ORPHA:124
HP:0001631	Atrial septal defect	6132	RPL8	ORPHA:124
HP:0001631	Atrial septal defect	6223	RPS19	ORPHA:124
HP:0001631	Atrial septal defect	6223	RPS19	OMIM:105650
HP:0001631	Atrial septal defect	6232	RPS27	ORPHA:124
HP:0001631	Atrial septal defect	55027	HEATR3	ORPHA:124
HP:0001631	Atrial septal defect	6160	RPL31	ORPHA:124
HP:0001631	Atrial septal defect	6201	RPS7	ORPHA:124
HP:0001631	Atrial septal defect	6155	RPL27	ORPHA:124
HP:0001631	Atrial septal defect	6155	RPL27	OMIM:617408
HP:0001631	Atrial septal defect	6234	RPS28	ORPHA:124
HP:0001631	Atrial septal defect	6135	RPL11	ORPHA:124
HP:0001631	Atrial septal defect	6229	RPS24	ORPHA:124
HP:0001631	Atrial septal defect	6125	RPL5	ORPHA:124
HP:0001631	Atrial septal defect	6125	RPL5	OMIM:612561
HP:0001631	Atrial septal defect	6204	RPS10	ORPHA:124
HP:0001631	Atrial septal defect	2623	GATA1	ORPHA:124
HP:0001631	Atrial septal defect	6133	RPL9	ORPHA:124
HP:0001631	Atrial septal defect	6231	RPS26	ORPHA:124
HP:0001631	Atrial septal defect	11224	RPL35	ORPHA:124
HP:0001631	Atrial septal defect	6218	RPS17	ORPHA:124
HP:0001631	Atrial septal defect	6218	RPS17	OMIM:612527
HP:0001631	Atrial septal defect	6154	RPL26	ORPHA:124
HP:0001631	Atrial septal defect	6210	RPS15A	ORPHA:124
HP:0001631	Atrial septal defect	90121	TSR2	ORPHA:124
HP:0001631	Atrial septal defect	6141	RPL18	ORPHA:124
HP:0001631	Atrial septal defect	6235	RPS29	ORPHA:124
HP:0001631	Atrial septal defect	51816	ADA2	ORPHA:124
HP:0001631	Atrial septal defect	3845	KRAS	OMIM:600268
HP:0001631	Atrial septal defect	3845	KRAS	ORPHA:648
HP:0001631	Atrial septal defect	3845	KRAS	ORPHA:1340
HP:0001631	Atrial septal defect	3845	KRAS	OMIM:609942
HP:0001631	Atrial septal defect	25970	SH2B1	ORPHA:261197
HP:0001631	Atrial septal defect	8621	CDK13	OMIM:617360
HP:0001631	Atrial septal defect	1523	CUX1	OMIM:618330
HP:0001631	Atrial septal defect	4212	MEIS2	ORPHA:261190
HP:0001631	Atrial septal defect	4212	MEIS2	OMIM:600987
HP:0001631	Atrial septal defect	7046	TGFBR1	OMIM:609192
HP:0001631	Atrial septal defect	6654	SOS1	OMIM:610733
HP:0001631	Atrial septal defect	6654	SOS1	ORPHA:648
HP:0001631	Atrial septal defect	1801	DPH1	ORPHA:459061
HP:0001631	Atrial septal defect	1802	DPH2	ORPHA:459061
HP:0001631	Atrial septal defect	7080	NKX2-1	OMIM:610978
HP:0001631	Atrial septal defect	7080	NKX2-1	ORPHA:209905
HP:0001631	Atrial septal defect	2879	GPX4	OMIM:250220
HP:0001631	Atrial septal defect	64132	XYLT2	OMIM:605822
HP:0001631	Atrial septal defect	2737	GLI3	ORPHA:672
HP:0001631	Atrial septal defect	2737	GLI3	OMIM:175700
HP:0001631	Atrial septal defect	9361	LONP1	OMIM:600373
HP:0001631	Atrial septal defect	6909	TBX2	OMIM:618223
HP:0001631	Atrial septal defect	6477	SIAH1	OMIM:619314
HP:0001631	Atrial septal defect	123606	NIPA1	ORPHA:261183
HP:0001631	Atrial septal defect	7283	TUBG1	ORPHA:261183
HP:0001631	Atrial septal defect	81614	NIPA2	ORPHA:261183
HP:0001631	Atrial septal defect	10765	KDM5B	OMIM:618109
HP:0001631	Atrial septal defect	92335	STRADA	ORPHA:500533
HP:0001631	Atrial septal defect	92335	STRADA	OMIM:611087
HP:0001631	Atrial septal defect	253738	EBF3	ORPHA:96148
HP:0001631	Atrial septal defect	90459	ERI1	OMIM:620663
HP:0001631	Atrial septal defect	90459	ERI1	OMIM:620662
HP:0001631	Atrial septal defect	4838	NODAL	OMIM:270100
HP:0001631	Atrial septal defect	2627	GATA6	OMIM:600001
HP:0001631	Atrial septal defect	2627	GATA6	ORPHA:2255
HP:0001631	Atrial septal defect	55315	SLC29A3	OMIM:602782
HP:0001631	Atrial septal defect	6888	TALDO1	ORPHA:101028
HP:0001631	Atrial septal defect	6888	TALDO1	OMIM:606003
HP:0001631	Atrial septal defect	6299	SALL1	OMIM:107480
HP:0001631	Atrial septal defect	6299	SALL1	ORPHA:857
HP:0001631	Atrial septal defect	7490	WT1	ORPHA:3097
HP:0001631	Atrial septal defect	7490	WT1	OMIM:608978
HP:0001631	Atrial septal defect	5515	PPP2CA	OMIM:618354
HP:0001631	Atrial septal defect	1387	CREBBP	ORPHA:353281
HP:0001631	Atrial septal defect	1387	CREBBP	OMIM:180849
HP:0001631	Atrial septal defect	1387	CREBBP	ORPHA:353277
HP:0001631	Atrial septal defect	650	BMP2	ORPHA:261295
HP:0001631	Atrial septal defect	6651	SON	OMIM:617140
HP:0001631	Atrial septal defect	6651	SON	ORPHA:500150
HP:0001631	Atrial septal defect	5649	RELN	ORPHA:89844
HP:0001631	Atrial septal defect	10300	KATNB1	ORPHA:89844
HP:0001631	Atrial septal defect	54820	NDE1	ORPHA:89844
HP:0001631	Atrial septal defect	55215	FANCI	OMIM:609053
HP:0001631	Atrial septal defect	55215	FANCI	ORPHA:84
HP:0001631	Atrial septal defect	1363	CPE	OMIM:619326
HP:0001631	Atrial septal defect	8312	AXIN1	OMIM:620558
HP:0001631	Atrial septal defect	2033	EP300	ORPHA:353284
HP:0001631	Atrial septal defect	2033	EP300	OMIM:180849
HP:0001631	Atrial septal defect	51114	ZDHHC9	ORPHA:776
HP:0001631	Atrial septal defect	65109	UPF3B	ORPHA:776
HP:0001631	Atrial septal defect	5077	PAX3	ORPHA:896
HP:0001631	Atrial septal defect	9126	SMC3	OMIM:610759
HP:0001631	Atrial septal defect	9126	SMC3	ORPHA:199
HP:0001631	Atrial septal defect	4784	NFIX	OMIM:602535
HP:0001631	Atrial septal defect	2530	FUT8	OMIM:618005
HP:0001631	Atrial septal defect	50619	DEF6	OMIM:619573
HP:0001631	Atrial septal defect	8260	NAA10	OMIM:300855
HP:0001631	Atrial septal defect	166378	AFG2A	ORPHA:457351
HP:0001631	Atrial septal defect	10082	GPC6	OMIM:258315
HP:0001631	Atrial septal defect	1108	CHD4	OMIM:617159
HP:0001631	Atrial septal defect	54551	MAGEL2	ORPHA:398069
HP:0001631	Atrial septal defect	201163	FLCN	OMIM:610883
HP:0001631	Atrial septal defect	400569	MED11	OMIM:620327
HP:0001631	Atrial septal defect	1312	COMT	ORPHA:567
HP:0001631	Atrial septal defect	221037	JMJD1C	ORPHA:567
HP:0001631	Atrial septal defect	2812	GP1BB	ORPHA:567
HP:0001631	Atrial septal defect	6239	RREB1	ORPHA:567
HP:0001631	Atrial septal defect	6899	TBX1	ORPHA:567
HP:0001631	Atrial septal defect	6899	TBX1	ORPHA:3384
HP:0001631	Atrial septal defect	7290	HIRA	ORPHA:567
HP:0001631	Atrial septal defect	9632	SEC24C	ORPHA:567
HP:0001631	Atrial septal defect	7353	UFD1	ORPHA:567
HP:0001631	Atrial septal defect	421	ARVCF	ORPHA:567
HP:0001631	Atrial septal defect	7703	PCGF2	OMIM:618371
HP:0001631	Atrial septal defect	27031	NPHP3	OMIM:267010
HP:0001631	Atrial septal defect	27031	NPHP3	OMIM:208540
HP:0001631	Atrial septal defect	9496	TBX4	ORPHA:261279
HP:0001631	Atrial septal defect	26276	VPS33B	OMIM:208085
HP:0001631	Atrial septal defect	22808	MRAS	OMIM:618499
HP:0001631	Atrial septal defect	22808	MRAS	ORPHA:648
HP:0001631	Atrial septal defect	5277	PIGA	OMIM:300868
HP:0001631	Atrial septal defect	1822	ATN1	OMIM:618494
HP:0001631	Atrial septal defect	7403	KDM6A	OMIM:300867
HP:0001631	Atrial septal defect	7403	KDM6A	OMIM:147920
HP:0001631	Atrial septal defect	7403	KDM6A	ORPHA:2322
HP:0001631	Atrial septal defect	3188	HNRNPH2	OMIM:300986
HP:0001631	Atrial septal defect	54538	ROBO4	OMIM:618496
HP:0001631	Atrial septal defect	9343	EFTUD2	OMIM:610536
HP:0001631	Atrial septal defect	9343	EFTUD2	ORPHA:79113
HP:0001631	Atrial septal defect	55186	SLC25A36	OMIM:620211
HP:0001631	Atrial septal defect	164781	DAW1	OMIM:620570
HP:0001631	Atrial septal defect	26160	IFT172	OMIM:619471
HP:0001631	Atrial septal defect	5281	PIGF	OMIM:619356
HP:0001631	Atrial septal defect	1277	COL1A1	OMIM:619115
HP:0001631	Atrial septal defect	10526	IPO8	OMIM:619472
HP:0001631	Atrial septal defect	348180	CTU2	OMIM:618142
HP:0001631	Atrial septal defect	51604	PIGT	ORPHA:369837
HP:0001631	Atrial septal defect	145173	B3GLCT	OMIM:261540
HP:0001631	Atrial septal defect	92002	CCNQ	OMIM:300707
HP:0001631	Atrial septal defect	57514	ARHGAP31	OMIM:100300
HP:0001631	Atrial septal defect	8452	CUL3	OMIM:619239
HP:0001631	Atrial septal defect	2218	FKTN	OMIM:253800
HP:0001631	Atrial septal defect	113189	CHST14	OMIM:601776
HP:0001631	Atrial septal defect	51360	MBTPS2	OMIM:308205
HP:0001631	Atrial septal defect	7204	TRIO	OMIM:617061
HP:0001631	Atrial septal defect	285590	SH3PXD2B	OMIM:249420
HP:0001631	Atrial septal defect	374879	ZNF699	OMIM:619488
HP:0001631	Atrial septal defect	4841	NONO	OMIM:300967
HP:0001631	Atrial septal defect	4841	NONO	ORPHA:466791
HP:0001631	Atrial septal defect	51715	RAB23	OMIM:201000
HP:0001631	Atrial septal defect	8239	USP9X	OMIM:300968
HP:0001631	Atrial septal defect	8239	USP9X	ORPHA:480880
HP:0001631	Atrial septal defect	8318	CDC45	OMIM:617063
HP:0001631	Atrial septal defect	28952	CCDC22	OMIM:300963
HP:0001631	Atrial septal defect	28952	CCDC22	ORPHA:7
HP:0001631	Atrial septal defect	51339	DACT1	ORPHA:857
HP:0001631	Atrial septal defect	673	BRAF	OMIM:613706
HP:0001631	Atrial septal defect	673	BRAF	OMIM:115150
HP:0001631	Atrial septal defect	673	BRAF	ORPHA:1340
HP:0001631	Atrial septal defect	673	BRAF	OMIM:163950
HP:0001631	Atrial septal defect	126792	B3GALT6	OMIM:271640
HP:0001631	Atrial septal defect	745	MYRF	OMIM:618280
HP:0001631	Atrial septal defect	55252	ASXL2	OMIM:617190
HP:0001631	Atrial septal defect	84905	ZNF341	OMIM:618282
HP:0001631	Atrial septal defect	23387	SIK3	OMIM:618162
HP:0001631	Atrial septal defect	5528	PPP2R5D	ORPHA:457279
HP:0001631	Atrial septal defect	84231	TRAF7	OMIM:618164
HP:0001631	Atrial septal defect	7716	VEZF1	OMIM:620247
HP:0001631	Atrial septal defect	5557	PRIM1	OMIM:620005
HP:0001631	Atrial septal defect	3643	INSR	ORPHA:769
HP:0001631	Atrial septal defect	22800	RRAS2	ORPHA:648
HP:0001631	Atrial septal defect	867	CBL	ORPHA:648
HP:0001631	Atrial septal defect	6237	RRAS	ORPHA:648
HP:0001631	Atrial septal defect	5894	RAF1	ORPHA:648
HP:0001631	Atrial septal defect	5894	RAF1	OMIM:611553
HP:0001631	Atrial septal defect	200734	SPRED2	ORPHA:648
HP:0001631	Atrial septal defect	4893	NRAS	ORPHA:648
HP:0001631	Atrial septal defect	4893	NRAS	OMIM:613224
HP:0001631	Atrial septal defect	6655	SOS2	ORPHA:648
HP:0001631	Atrial septal defect	5781	PTPN11	ORPHA:648
HP:0001631	Atrial septal defect	5781	PTPN11	OMIM:163950
HP:0001631	Atrial septal defect	5922	RASA2	ORPHA:648
HP:0001631	Atrial septal defect	59	ACTA2	OMIM:613834
HP:0001631	Atrial septal defect	4853	NOTCH2	OMIM:610205
HP:0001631	Atrial septal defect	23522	KAT6B	ORPHA:3047
HP:0001631	Atrial septal defect	23522	KAT6B	OMIM:606170
HP:0001631	Atrial septal defect	23522	KAT6B	ORPHA:85201
HP:0001631	Atrial septal defect	55901	THSD1	OMIM:620244
HP:0001631	Atrial septal defect	9897	WASHC5	ORPHA:7
HP:0001631	Atrial septal defect	9897	WASHC5	OMIM:220210
HP:0001631	Atrial septal defect	57020	VPS35L	ORPHA:7
HP:0001631	Atrial septal defect	56896	DPYSL5	ORPHA:7
HP:0001631	Atrial septal defect	129285	PPP1R21	OMIM:619383
HP:0001631	Atrial septal defect	55181	SMG8	OMIM:619268
HP:0001631	Atrial septal defect	27161	AGO2	OMIM:619149
HP:0001631	Atrial septal defect	9652	SKIC3	ORPHA:84064
HP:0001631	Atrial septal defect	6499	SKIC2	ORPHA:84064
HP:0001631	Atrial septal defect	4713	NDUFB7	OMIM:620135
HP:0001631	Atrial septal defect	3480	IGF1R	OMIM:270450
HP:0001631	Atrial septal defect	8085	KMT2D	OMIM:147920
HP:0001631	Atrial septal defect	8085	KMT2D	OMIM:620186
HP:0001631	Atrial septal defect	8085	KMT2D	ORPHA:2322
HP:0001631	Atrial septal defect	2294	FOXF1	OMIM:265380
HP:0001631	Atrial septal defect	2294	FOXF1	ORPHA:210122
HP:0001631	Atrial septal defect	137814	NKX2-6	ORPHA:3384
HP:0001631	Atrial septal defect	23129	PLXND1	ORPHA:3384
HP:0001631	Atrial septal defect	23241	PACS2	OMIM:618067
HP:0001631	Atrial septal defect	57539	WDR35	OMIM:613610
HP:0001631	Atrial septal defect	8496	PPFIBP1	OMIM:620024
HP:0001631	Atrial septal defect	9839	ZEB2	OMIM:235730
HP:0001631	Atrial septal defect	64324	NSD1	ORPHA:821
HP:0001631	Atrial septal defect	64324	NSD1	OMIM:117550
HP:0001631	Atrial septal defect	10297	APC2	ORPHA:821
HP:0001631	Atrial septal defect	1278	COL1A2	ORPHA:230851
HP:0001631	Atrial septal defect	613	BCR	ORPHA:261330
HP:0001631	Atrial septal defect	1399	CRKL	ORPHA:261330
HP:0001631	Atrial septal defect	5594	MAPK1	ORPHA:261330
HP:0001631	Atrial septal defect	5594	MAPK1	OMIM:619087
HP:0001631	Atrial septal defect	89910	UBE3B	OMIM:244450
HP:0001631	Atrial septal defect	55788	LMBRD1	OMIM:277380
HP:0001631	Atrial septal defect	10847	SRCAP	ORPHA:2044
HP:0001631	Atrial septal defect	10847	SRCAP	OMIM:136140
HP:0001631	Atrial septal defect	1717	DHCR7	ORPHA:818
HP:0001631	Atrial septal defect	1717	DHCR7	OMIM:270400
HP:0001631	Atrial septal defect	56992	KIF15	ORPHA:261323
HP:0001631	Atrial septal defect	57492	ARID1B	OMIM:135900
HP:0001631	Atrial septal defect	57492	ARID1B	ORPHA:1465
HP:0001631	Atrial septal defect	80204	FBXO11	OMIM:618089
HP:0001631	Atrial septal defect	1889	ECE1	OMIM:613870
HP:0001631	Atrial septal defect	672	BRCA1	ORPHA:84
HP:0001631	Atrial septal defect	10459	MAD2L2	ORPHA:84
HP:0001631	Atrial septal defect	7516	XRCC2	ORPHA:84
HP:0001631	Atrial septal defect	29089	UBE2T	ORPHA:84
HP:0001631	Atrial septal defect	675	BRCA2	ORPHA:84
HP:0001631	Atrial septal defect	55120	FANCL	ORPHA:84
HP:0001631	Atrial septal defect	2177	FANCD2	ORPHA:84
HP:0001631	Atrial septal defect	2175	FANCA	ORPHA:84
HP:0001631	Atrial septal defect	2187	FANCB	ORPHA:84
HP:0001631	Atrial septal defect	2176	FANCC	ORPHA:84
HP:0001631	Atrial septal defect	2178	FANCE	ORPHA:84
HP:0001631	Atrial septal defect	2189	FANCG	ORPHA:84
HP:0001631	Atrial septal defect	5888	RAD51	ORPHA:84
HP:0001631	Atrial septal defect	5889	RAD51C	ORPHA:84
HP:0001631	Atrial septal defect	55159	RFWD3	ORPHA:84
HP:0001631	Atrial septal defect	83990	BRIP1	ORPHA:84
HP:0001631	Atrial septal defect	57697	FANCM	ORPHA:84
HP:0001631	Atrial septal defect	84464	SLX4	ORPHA:84
HP:0001631	Atrial septal defect	2072	ERCC4	ORPHA:84
HP:0001631	Atrial septal defect	6597	SMARCA4	OMIM:614609
HP:0001631	Atrial septal defect	6597	SMARCA4	ORPHA:1465
HP:0001631	Atrial septal defect	222663	SCUBE3	OMIM:619184
HP:0001631	Atrial septal defect	9896	FIG4	ORPHA:3472
HP:0001631	Atrial septal defect	55697	VAC14	ORPHA:3472
HP:0001631	Atrial septal defect	9184	BUB3	ORPHA:1052
HP:0001631	Atrial septal defect	699	BUB1	ORPHA:1052
HP:0001631	Atrial septal defect	9702	CEP57	ORPHA:1052
HP:0001631	Atrial septal defect	9702	CEP57	OMIM:614114
HP:0001631	Atrial septal defect	9319	TRIP13	ORPHA:1052
HP:0001631	Atrial septal defect	701	BUB1B	ORPHA:1052
HP:0001631	Atrial septal defect	701	BUB1B	OMIM:257300
HP:0001631	Atrial septal defect	26053	AUTS2	ORPHA:352490
HP:0001631	Atrial septal defect	6885	MAP3K7	OMIM:157800
HP:0001631	Atrial septal defect	55148	UBR7	OMIM:619189
HP:0001631	Atrial septal defect	79813	EHMT1	OMIM:610253
HP:0001631	Atrial septal defect	1954	MEGF8	OMIM:614976
HP:0001631	Atrial septal defect	55636	CHD7	OMIM:214800
HP:0001631	Atrial septal defect	5728	PTEN	ORPHA:79076
HP:0001631	Atrial septal defect	657	BMPR1A	ORPHA:79076
HP:0001631	Atrial septal defect	26005	C2CD3	OMIM:615948
HP:0001631	Atrial septal defect	53834	FGFRL1	OMIM:194190
HP:0001631	Atrial septal defect	3265	HRAS	OMIM:218040
HP:0001631	Atrial septal defect	5826	ABCD4	OMIM:614857
HP:0001631	Atrial septal defect	2697	GJA1	OMIM:164200
HP:0001631	Atrial septal defect	2697	GJA1	ORPHA:2248
HP:0001631	Atrial septal defect	10841	FTCD	ORPHA:51208
HP:0001631	Atrial septal defect	5828	PEX2	OMIM:614866
HP:0001631	Atrial septal defect	6804	STX1A	ORPHA:904
HP:0001631	Atrial septal defect	7461	CLIP2	ORPHA:904
HP:0001631	Atrial septal defect	84277	DNAJC30	ORPHA:904
HP:0001631	Atrial septal defect	8468	FKBP6	ORPHA:904
HP:0001631	Atrial septal defect	5982	RFC2	ORPHA:904
HP:0001631	Atrial septal defect	2969	GTF2I	ORPHA:904
HP:0001631	Atrial septal defect	3984	LIMK1	ORPHA:904
HP:0001631	Atrial septal defect	9569	GTF2IRD1	ORPHA:904
HP:0001631	Atrial septal defect	155382	VPS37D	ORPHA:904
HP:0001631	Atrial septal defect	155368	METTL27	ORPHA:904
HP:0001631	Atrial septal defect	114049	BUD23	ORPHA:904
HP:0001631	Atrial septal defect	7458	EIF4H	ORPHA:904
HP:0001631	Atrial septal defect	84163	GTF2IRD2	ORPHA:904
HP:0001631	Atrial septal defect	26608	TBL2	ORPHA:904
HP:0001631	Atrial septal defect	653361	NCF1	ORPHA:904
HP:0001631	Atrial septal defect	135886	TMEM270	ORPHA:904
HP:0001631	Atrial septal defect	9031	BAZ1B	ORPHA:904
HP:0001631	Atrial septal defect	2006	ELN	ORPHA:904
HP:0001631	Atrial septal defect	2006	ELN	OMIM:194050
HP:0001631	Atrial septal defect	84720	PIGO	OMIM:614749
HP:0001631	Atrial septal defect	54499	TMCO1	OMIM:213980
HP:0001631	Atrial septal defect	83475	DOHH	OMIM:620066
HP:0001631	Atrial septal defect	55719	SLF2	OMIM:620184
HP:0001631	Atrial septal defect	10907	TXNL4A	OMIM:608572
HP:0001631	Atrial septal defect	51611	DPH5	OMIM:620070
HP:0001631	Atrial septal defect	79228	THOC6	ORPHA:363444
HP:0001631	Atrial septal defect	4089	SMAD4	OMIM:139210
HP:0001631	Atrial septal defect	57057	TBX20	OMIM:611363
HP:0001631	Atrial septal defect	1482	NKX2-5	ORPHA:2248
HP:0001631	Atrial septal defect	1482	NKX2-5	OMIM:614432
HP:0001631	Atrial septal defect	182	JAG1	OMIM:118450
HP:0001631	Atrial septal defect	3708	ITPR1	OMIM:117360
HP:0001631	Atrial septal defect	6605	SMARCE1	OMIM:616938
HP:0001631	Atrial septal defect	6605	SMARCE1	ORPHA:1465
HP:0001631	Atrial septal defect	388015	RTL1	ORPHA:96334
HP:0001631	Atrial septal defect	8788	DLK1	ORPHA:96334
HP:0001631	Atrial septal defect	55384	MEG3	ORPHA:96334
HP:0001631	Atrial septal defect	51085	MLXIPL	OMIM:194050
HP:0001631	Atrial septal defect	3911	LAMA5	OMIM:620076
HP:0001631	Atrial septal defect	10430	TMEM147	OMIM:620075
HP:0001631	Atrial septal defect	7355	SLC35A2	OMIM:300896
HP:0001631	Atrial septal defect	23483	TGDS	ORPHA:1388
HP:0001631	Atrial septal defect	4088	SMAD3	OMIM:613795
HP:0001631	Atrial septal defect	80184	CEP290	OMIM:611134
HP:0001631	Atrial septal defect	7048	TGFBR2	OMIM:610168
HP:0001631	Atrial septal defect	140628	GATA5	OMIM:617912
HP:0001631	Atrial septal defect	5824	PEX19	OMIM:614886
HP:0001631	Atrial septal defect	8195	MKKS	ORPHA:2473
HP:0001631	Atrial septal defect	51574	LARP7	ORPHA:319671
HP:0001631	Atrial septal defect	147372	CCBE1	OMIM:235510
HP:0001631	Atrial septal defect	50945	TBX22	ORPHA:921
HP:0001631	Atrial septal defect	84978	FRMD5	OMIM:620094
HP:0001631	Atrial septal defect	157570	ESCO2	OMIM:268300
HP:0001631	Atrial septal defect	171023	ASXL1	OMIM:605039
HP:0001631	Atrial septal defect	2317	FLNB	OMIM:150250
HP:0001631	Atrial septal defect	583	BBS2	OMIM:615981
HP:0001631	Atrial septal defect	2703	GJA8	OMIM:612474
HP:0001631	Atrial septal defect	2702	GJA5	OMIM:612474
HP:0001631	Atrial septal defect	55690	PACS1	ORPHA:329224
HP:0001631	Atrial septal defect	10664	CTCF	OMIM:615502
HP:0001631	Atrial septal defect	10664	CTCF	ORPHA:363611
HP:0001631	Atrial septal defect	196528	ARID2	OMIM:617808
HP:0001631	Atrial septal defect	196528	ARID2	ORPHA:1465
HP:0001631	Atrial septal defect	8243	SMC1A	OMIM:301044
HP:0001631	Atrial septal defect	8243	SMC1A	ORPHA:199
HP:0001631	Atrial septal defect	9780	PIEZO1	OMIM:616843
HP:0001631	Atrial septal defect	11020	IFT27	OMIM:615996
HP:0001631	Atrial septal defect	100151683	RNU4ATAC	OMIM:210710
HP:0001631	Atrial septal defect	5648	MASP1	OMIM:257920
HP:0001631	Atrial septal defect	23394	ADNP	OMIM:615873
HP:0001631	Atrial septal defect	57167	SALL4	OMIM:607323
HP:0001631	Atrial septal defect	2258	FGF13	OMIM:301058
HP:0001631	Atrial septal defect	57465	TBC1D24	OMIM:220500
HP:0001631	Atrial septal defect	113179	ADAT3	ORPHA:363528
HP:0001631	Atrial septal defect	3313	HSPA9	OMIM:616854
HP:0001631	Atrial septal defect	10370	CITED2	OMIM:614433
HP:0001631	Atrial septal defect	131118	DNAJC19	OMIM:610198
HP:0001631	Atrial septal defect	2263	FGFR2	OMIM:207410
HP:0001631	Atrial septal defect	5447	POR	OMIM:207410
HP:0001631	Atrial septal defect	10560	SLC19A2	ORPHA:49827
HP:0001631	Atrial septal defect	10560	SLC19A2	OMIM:249270
HP:0001631	Atrial septal defect	4297	KMT2A	OMIM:605130
HP:0001631	Atrial septal defect	7547	ZIC3	OMIM:306955
HP:0001631	Atrial septal defect	2657	GDF1	OMIM:208530
HP:0001631	Atrial septal defect	10265	IRX5	OMIM:611174
HP:0001631	Atrial septal defect	6598	SMARCB1	ORPHA:1465
HP:0001631	Atrial septal defect	6659	SOX4	ORPHA:1465
HP:0001631	Atrial septal defect	8289	ARID1A	ORPHA:1465
HP:0001631	Atrial septal defect	5977	DPF2	ORPHA:1465
HP:0001631	Atrial septal defect	6601	SMARCC2	ORPHA:1465
HP:0001631	Atrial septal defect	6602	SMARCD1	ORPHA:1465
HP:0001631	Atrial septal defect	6664	SOX11	ORPHA:1465
HP:0001631	Atrial septal defect	27315	PGAP2	OMIM:614207
HP:0001631	Atrial septal defect	5605	MAP2K2	ORPHA:1340
HP:0001631	Atrial septal defect	118856	MMP21	OMIM:616749
HP:0001631	Atrial septal defect	6606	SMN1	OMIM:253300
HP:0001631	Atrial septal defect	54806	AHI1	OMIM:608629
HP:0001631	Atrial septal defect	5422	POLA1	OMIM:301030
HP:0001631	Atrial septal defect	79576	NKAP	OMIM:301039
HP:0001631	Atrial septal defect	25	ABL1	OMIM:617602
HP:0001631	Atrial septal defect	57511	COG6	OMIM:614576
HP:0001631	Atrial septal defect	2260	FGFR1	OMIM:613001
HP:0001631	Atrial septal defect	23476	BRD4	ORPHA:199
HP:0001631	Atrial septal defect	6878	TAF6	ORPHA:199
HP:0001631	Atrial septal defect	55869	HDAC8	ORPHA:199
HP:0001631	Atrial septal defect	5885	RAD21	ORPHA:199
HP:0001631	Atrial septal defect	6628	SNRPB	OMIM:117650
HP:0001631	Atrial septal defect	29957	SLC25A24	OMIM:612289
HP:0001631	Atrial septal defect	54880	BCOR	OMIM:300166
HP:0001631	Atrial septal defect	55617	TASP1	OMIM:618950
HP:0001631	Atrial septal defect	6857	SYT1	ORPHA:522077
HP:0001631	Atrial septal defect	10293	TRAIP	OMIM:616777
HP:0001631	Atrial septal defect	4780	NFE2L2	OMIM:617744
HP:0001631	Atrial septal defect	3832	KIF11	ORPHA:2526
HP:0001631	Atrial septal defect	5500	PPP1CB	OMIM:617506
HP:0001631	Atrial septal defect	93649	MYOCD	OMIM:618719
HP:0001631	Atrial septal defect	139285	AMER1	OMIM:300373
HP:0001631	Atrial septal defect	5296	PIK3R2	OMIM:603387
HP:0001631	Atrial septal defect	9786	KIAA0586	OMIM:616546
HP:0001631	Atrial septal defect	5116	PCNT	ORPHA:2637
HP:0001631	Atrial septal defect	4000	LMNA	ORPHA:1662
HP:0001631	Atrial septal defect	10269	ZMPSTE24	ORPHA:1662
HP:0001631	Atrial septal defect	10269	ZMPSTE24	OMIM:275210
HP:0001631	Atrial septal defect	8777	MPDZ	OMIM:615219
HP:0001631	Atrial septal defect	5718	PSMD12	OMIM:617516
HP:0001631	Atrial septal defect	9439	MED23	OMIM:614249
HP:0001631	Atrial septal defect	9939	RBM8A	OMIM:274000
HP:0001631	Atrial septal defect	9451	EIF2AK3	ORPHA:1667
HP:0001631	Atrial septal defect	37	ACADVL	ORPHA:26793
HP:0001631	Atrial septal defect	9469	CHST3	OMIM:245600
HP:0001631	Atrial septal defect	26229	B3GAT3	OMIM:245600
HP:0001631	Atrial septal defect	7043	TGFB3	OMIM:615582
HP:0001631	Atrial septal defect	7543	ZFX	OMIM:301118
HP:0001631	Atrial septal defect	4281	MID1	ORPHA:2745
HP:0001631	Atrial septal defect	523	ATP6V1A	OMIM:617403
HP:0001631	Atrial septal defect	7372	UMPS	OMIM:258900
HP:0001631	Atrial septal defect	529	ATP6V1E1	OMIM:617402
HP:0001631	Atrial septal defect	84148	KAT8	OMIM:618974
HP:0001631	Atrial septal defect	100128908	CIROP	OMIM:619702
HP:0001631	Atrial septal defect	9949	AMMECR1	OMIM:300990
HP:0001631	Atrial septal defect	7528	YY1	ORPHA:506358
HP:0001631	Atrial septal defect	7528	YY1	OMIM:617557
HP:0001631	Atrial septal defect	10735	STAG2	OMIM:301043
HP:0001631	Atrial septal defect	776	CACNA1D	OMIM:615474
HP:0001631	Atrial septal defect	54892	NCAPG2	OMIM:618460
HP:0001631	Atrial septal defect	8425	LTBP4	OMIM:613177
HP:0001631	Atrial septal defect	1024	CDK8	OMIM:618748
HP:0001631	Atrial septal defect	4091	SMAD6	OMIM:614823
HP:0001631	Atrial septal defect	6091	ROBO1	OMIM:620305
HP:0001631	Atrial septal defect	10102	TSFM	OMIM:610505
HP:0001631	Atrial septal defect	27125	AFF4	ORPHA:444077
HP:0001631	Atrial septal defect	27125	AFF4	OMIM:616368
HP:0001631	Atrial septal defect	9578	CDC42BPB	OMIM:619841
HP:0001631	Atrial septal defect	29998	BICRA	OMIM:619325
HP:0001631	Atrial septal defect	51506	UFC1	OMIM:618076
HP:0001631	Atrial septal defect	6392	SDHD	OMIM:619167
HP:0001631	Atrial septal defect	473	RERE	OMIM:616975
HP:0001631	Atrial septal defect	23291	FBXW11	OMIM:618914
HP:0001631	Atrial septal defect	79158	GNPTAB	ORPHA:576
HP:0001631	Atrial septal defect	4001	LMNB1	OMIM:619179
HP:0001631	Atrial septal defect	51434	ANAPC7	OMIM:619699
HP:0001631	Atrial septal defect	25885	POLR1A	OMIM:616462
HP:0001631	Atrial septal defect	5119	CHMP1A	OMIM:614961
HP:0001631	Atrial septal defect	51008	ASCC1	OMIM:616867
HP:0001631	Atrial septal defect	9325	TRIP4	OMIM:616866
HP:0001631	Atrial septal defect	29940	DSE	OMIM:615539
HP:0001631	Atrial septal defect	23389	MED13L	ORPHA:369891
HP:0001631	Atrial septal defect	23389	MED13L	OMIM:616789
HP:0001631	Atrial septal defect	79087	ALG12	OMIM:607143
HP:0001631	Atrial septal defect	79087	ALG12	ORPHA:79324
HP:0001631	Atrial septal defect	23028	KDM1A	ORPHA:477993
HP:0001631	Atrial septal defect	1656	DDX6	OMIM:618653
HP:0001631	Atrial septal defect	1301	COL11A1	OMIM:228520
HP:0001631	Atrial septal defect	8802	SUCLG1	ORPHA:17
HP:0001631	Atrial septal defect	6638	SNRPN	ORPHA:177907
HP:0001631	Atrial septal defect	26227	PHGDH	OMIM:256520
HP:0001631	Atrial septal defect	6772	STAT1	ORPHA:391487
HP:0001631	Atrial septal defect	1763	DNA2	OMIM:615156
HP:0001631	Atrial septal defect	11222	MRPL3	OMIM:614582
HP:0001631	Atrial septal defect	91461	PKDCC	OMIM:618821
HP:0001631	Atrial septal defect	6789	STK4	OMIM:614868
HP:0001631	Atrial septal defect	10681	GNB5	OMIM:617182
HP:0001631	Atrial septal defect	10681	GNB5	ORPHA:542306
HP:0001631	Atrial septal defect	10651	MTX2	OMIM:619127
HP:0001631	Atrial septal defect	1857	DVL3	OMIM:616894
HP:0001631	Atrial septal defect	9739	SETD1A	OMIM:618832
HP:0001631	Atrial septal defect	7291	TWIST1	OMIM:617746
HP:0001631	Atrial septal defect	100506658	OCLN	OMIM:251290
HP:0001631	Atrial septal defect	79971	WLS	OMIM:619648
HP:0001631	Atrial septal defect	118924	FRA10AC1	OMIM:620113
HP:0001631	Atrial septal defect	6123	RPL3L	OMIM:619371
HP:0001631	Atrial septal defect	775	CACNA1C	OMIM:601005
HP:0001631	Atrial septal defect	79989	IFT56	OMIM:619534
HP:0001631	Atrial septal defect	10848	PPP1R13L	OMIM:620519
HP:0001631	Atrial septal defect	89970	RSPRY1	ORPHA:457395
HP:0001631	Atrial septal defect	57479	PRR12	OMIM:619539
HP:0001631	Atrial septal defect	4851	NOTCH1	OMIM:616028
HP:0001631	Atrial septal defect	5879	RAC1	ORPHA:500159
HP:0001631	Atrial septal defect	85459	CEP295	OMIM:620767
HP:0001631	Atrial septal defect	79645	CLXN	OMIM:620642
HP:0001631	Atrial septal defect	8295	TRRAP	OMIM:618454
HP:0001631	Atrial septal defect	54101	RIPK4	OMIM:263650
HP:0001631	Atrial septal defect	7319	UBE2A	ORPHA:163956
HP:0001631	Atrial septal defect	90952	ESAM	OMIM:620371
HP:0001631	Atrial septal defect	91949	COG7	OMIM:608779
HP:0001631	Atrial septal defect	8294	H4C9	OMIM:619951
HP:0001631	Atrial septal defect	29081	METTL5	OMIM:618665
HP:0001631	Atrial septal defect	7026	NR2F2	OMIM:618901
HP:0001631	Atrial septal defect	132	ADK	OMIM:614300
HP:0001631	Atrial septal defect	5396	PRRX1	OMIM:202650
HP:0001631	Atrial septal defect	490	ATP2B1	OMIM:619910
HP:0001631	Atrial septal defect	8364	H4C3	OMIM:619758
HP:0001631	Atrial septal defect	11128	POLR3A	OMIM:264090
HP:0001631	Atrial septal defect	256297	PTF1A	OMIM:609069
HP:0001631	Atrial septal defect	79759	ZNF668	OMIM:620194
HP:0001631	Atrial septal defect	6472	SHMT2	OMIM:619121
HP:0001631	Atrial septal defect	80055	PGAP1	OMIM:615802
HP:0001631	Atrial septal defect	2314	FLII	OMIM:620635
HP:0001631	Atrial septal defect	471	ATIC	OMIM:608688
HP:0001631	Atrial septal defect	3417	IDH1	ORPHA:99646
HP:0001631	Atrial septal defect	4624	MYH6	OMIM:614089
HP:0001631	Atrial septal defect	11274	USP18	OMIM:617397
HP:0001631	Atrial septal defect	92579	G6PC3	OMIM:612541
HP:0001631	Atrial septal defect	439	GET3	OMIM:620203
HP:0001631	Atrial septal defect	10079	ATP9A	OMIM:620242
HP:0001631	Atrial septal defect	64121	RRAGC	OMIM:620609
HP:0001631	Atrial septal defect	27145	FILIP1	OMIM:620775
HP:0001631	Atrial septal defect	1974	EIF4A2	OMIM:620455
HP:0001631	Atrial septal defect	59336	PRDM13	OMIM:619909
HP:0001631	Atrial septal defect	25790	CFAP45	OMIM:619608
HP:0001633	Abnormal mitral valve morphology	79158	GNPTAB	ORPHA:576
HP:0001633	Abnormal mitral valve morphology	7092	TLL1	ORPHA:99103
HP:0001633	Abnormal mitral valve morphology	57057	TBX20	ORPHA:99103
HP:0001633	Abnormal mitral valve morphology	4624	MYH6	ORPHA:99103
HP:0001633	Abnormal mitral valve morphology	1482	NKX2-5	ORPHA:99103
HP:0001633	Abnormal mitral valve morphology	70	ACTC1	ORPHA:99103
HP:0001633	Abnormal mitral valve morphology	10370	CITED2	ORPHA:99103
HP:0001633	Abnormal mitral valve morphology	2626	GATA4	ORPHA:99103
HP:0001633	Abnormal mitral valve morphology	2627	GATA6	ORPHA:99103
HP:0001633	Abnormal mitral valve morphology	6197	RPS6KA3	ORPHA:192
HP:0001633	Abnormal mitral valve morphology	3423	IDS	ORPHA:217085
HP:0001633	Abnormal mitral valve morphology	3423	IDS	ORPHA:217093
HP:0001633	Abnormal mitral valve morphology	5781	PTPN11	ORPHA:500
HP:0001633	Abnormal mitral valve morphology	673	BRAF	ORPHA:500
HP:0001633	Abnormal mitral valve morphology	673	BRAF	OMIM:613707
HP:0001633	Abnormal mitral valve morphology	5894	RAF1	ORPHA:500
HP:0001633	Abnormal mitral valve morphology	9897	WASHC5	ORPHA:7
HP:0001633	Abnormal mitral valve morphology	28952	CCDC22	ORPHA:7
HP:0001633	Abnormal mitral valve morphology	57020	VPS35L	ORPHA:7
HP:0001633	Abnormal mitral valve morphology	56896	DPYSL5	ORPHA:7
HP:0001633	Abnormal mitral valve morphology	4000	LMNA	ORPHA:740
HP:0001633	Abnormal mitral valve morphology	10269	ZMPSTE24	ORPHA:740
HP:0001633	Abnormal mitral valve morphology	8085	KMT2D	OMIM:147920
HP:0001633	Abnormal mitral valve morphology	7403	KDM6A	OMIM:147920
HP:0001633	Abnormal mitral valve morphology	64132	XYLT2	OMIM:605822
HP:0001633	Abnormal mitral valve morphology	64132	XYLT2	OMIM:264800
HP:0001633	Abnormal mitral valve morphology	2137	EXTL3	ORPHA:508533
HP:0001633	Abnormal mitral valve morphology	57190	SELENON	ORPHA:324604
HP:0001633	Abnormal mitral valve morphology	4625	MYH7	ORPHA:324604
HP:0001633	Abnormal mitral valve morphology	7273	TTN	ORPHA:324604
HP:0001633	Abnormal mitral valve morphology	10262	SF3B4	OMIM:154400
HP:0001633	Abnormal mitral valve morphology	8216	LZTR1	OMIM:616564
HP:0001633	Abnormal mitral valve morphology	8216	LZTR1	OMIM:605275
HP:0001633	Abnormal mitral valve morphology	9158	FIBP	ORPHA:500095
HP:0001633	Abnormal mitral valve morphology	9158	FIBP	OMIM:617107
HP:0001633	Abnormal mitral valve morphology	8076	MFAP5	OMIM:616166
HP:0001633	Abnormal mitral valve morphology	84627	ZNF469	OMIM:229200
HP:0001633	Abnormal mitral valve morphology	84627	ZNF469	ORPHA:90354
HP:0001633	Abnormal mitral valve morphology	7148	TNXB	ORPHA:230839
HP:0001633	Abnormal mitral valve morphology	7148	TNXB	OMIM:606408
HP:0001633	Abnormal mitral valve morphology	2972	BRF1	OMIM:616202
HP:0001633	Abnormal mitral valve morphology	2972	BRF1	ORPHA:444072
HP:0001633	Abnormal mitral valve morphology	23394	ADNP	OMIM:615873
HP:0001633	Abnormal mitral valve morphology	652	BMP4	ORPHA:828
HP:0001633	Abnormal mitral valve morphology	6091	ROBO1	OMIM:620305
HP:0001633	Abnormal mitral valve morphology	2316	FLNA	OMIM:314400
HP:0001633	Abnormal mitral valve morphology	2316	FLNA	OMIM:305620
HP:0001633	Abnormal mitral valve morphology	2316	FLNA	ORPHA:555877
HP:0001633	Abnormal mitral valve morphology	2316	FLNA	OMIM:309350
HP:0001633	Abnormal mitral valve morphology	170689	ADAMTS15	OMIM:620545
HP:0001633	Abnormal mitral valve morphology	5428	POLG	OMIM:258450
HP:0001633	Abnormal mitral valve morphology	5428	POLG	OMIM:607459
HP:0001633	Abnormal mitral valve morphology	2200	FBN1	ORPHA:284979
HP:0001633	Abnormal mitral valve morphology	2200	FBN1	OMIM:129600
HP:0001633	Abnormal mitral valve morphology	2200	FBN1	OMIM:154700
HP:0001633	Abnormal mitral valve morphology	2200	FBN1	OMIM:604308
HP:0001633	Abnormal mitral valve morphology	2200	FBN1	OMIM:616914
HP:0001633	Abnormal mitral valve morphology	2200	FBN1	OMIM:614185
HP:0001633	Abnormal mitral valve morphology	2200	FBN1	ORPHA:2462
HP:0001633	Abnormal mitral valve morphology	10021	HCN4	OMIM:163800
HP:0001633	Abnormal mitral valve morphology	55315	SLC29A3	OMIM:602782
HP:0001633	Abnormal mitral valve morphology	4054	LTBP3	OMIM:601216
HP:0001633	Abnormal mitral valve morphology	1278	COL1A2	ORPHA:230851
HP:0001633	Abnormal mitral valve morphology	1278	COL1A2	OMIM:225320
HP:0001633	Abnormal mitral valve morphology	2201	FBN2	OMIM:121050
HP:0001633	Abnormal mitral valve morphology	2201	FBN2	ORPHA:115
HP:0001633	Abnormal mitral valve morphology	10216	PRG4	ORPHA:2848
HP:0001633	Abnormal mitral valve morphology	1281	COL3A1	OMIM:130050
HP:0001633	Abnormal mitral valve morphology	1281	COL3A1	ORPHA:286
HP:0001633	Abnormal mitral valve morphology	51726	DNAJB11	ORPHA:730
HP:0001633	Abnormal mitral valve morphology	23193	GANAB	ORPHA:730
HP:0001633	Abnormal mitral valve morphology	5310	PKD1	ORPHA:730
HP:0001633	Abnormal mitral valve morphology	5310	PKD1	OMIM:173900
HP:0001633	Abnormal mitral valve morphology	5311	PKD2	ORPHA:730
HP:0001633	Abnormal mitral valve morphology	29880	ALG5	ORPHA:730
HP:0001633	Abnormal mitral valve morphology	9742	IFT140	ORPHA:730
HP:0001633	Abnormal mitral valve morphology	79796	ALG9	ORPHA:730
HP:0001633	Abnormal mitral valve morphology	80114	BICC1	ORPHA:730
HP:0001633	Abnormal mitral valve morphology	3074	HEXB	ORPHA:309155
HP:0001633	Abnormal mitral valve morphology	2332	FMR1	ORPHA:449291
HP:0001633	Abnormal mitral valve morphology	2332	FMR1	OMIM:300624
HP:0001633	Abnormal mitral valve morphology	2332	FMR1	ORPHA:908
HP:0001633	Abnormal mitral valve morphology	8642	DCHS1	OMIM:607829
HP:0001633	Abnormal mitral valve morphology	84665	MYPN	ORPHA:171881
HP:0001633	Abnormal mitral valve morphology	7169	TPM2	ORPHA:171881
HP:0001633	Abnormal mitral valve morphology	7170	TPM3	ORPHA:171881
HP:0001633	Abnormal mitral valve morphology	165	AEBP1	OMIM:618000
HP:0001633	Abnormal mitral valve morphology	165	AEBP1	ORPHA:536532
HP:0001633	Abnormal mitral valve morphology	54880	BCOR	ORPHA:2712
HP:0001633	Abnormal mitral valve morphology	54880	BCOR	OMIM:300166
HP:0001633	Abnormal mitral valve morphology	9968	MED12	ORPHA:93932
HP:0001633	Abnormal mitral valve morphology	29940	DSE	OMIM:615539
HP:0001633	Abnormal mitral valve morphology	5351	PLOD1	ORPHA:1900
HP:0001633	Abnormal mitral valve morphology	54539	NDUFB11	ORPHA:2556
HP:0001633	Abnormal mitral valve morphology	1349	COX7B	ORPHA:2556
HP:0001633	Abnormal mitral valve morphology	3052	HCCS	ORPHA:2556
HP:0001633	Abnormal mitral valve morphology	157680	VPS13B	OMIM:216550
HP:0001633	Abnormal mitral valve morphology	157680	VPS13B	ORPHA:193
HP:0001633	Abnormal mitral valve morphology	4313	MMP2	ORPHA:371428
HP:0001633	Abnormal mitral valve morphology	4313	MMP2	OMIM:259600
HP:0001633	Abnormal mitral valve morphology	4323	MMP14	ORPHA:371428
HP:0001633	Abnormal mitral valve morphology	1277	COL1A1	ORPHA:287
HP:0001633	Abnormal mitral valve morphology	1277	COL1A1	OMIM:166200
HP:0001633	Abnormal mitral valve morphology	1289	COL5A1	ORPHA:287
HP:0001633	Abnormal mitral valve morphology	1289	COL5A1	OMIM:130000
HP:0001633	Abnormal mitral valve morphology	1290	COL5A2	ORPHA:287
HP:0001633	Abnormal mitral valve morphology	3265	HRAS	ORPHA:3071
HP:0001633	Abnormal mitral valve morphology	3265	HRAS	OMIM:218040
HP:0001633	Abnormal mitral valve morphology	7703	PCGF2	OMIM:618371
HP:0001633	Abnormal mitral valve morphology	56776	FMN2	OMIM:616193
HP:0001633	Abnormal mitral valve morphology	26278	SACS	ORPHA:98
HP:0001633	Abnormal mitral valve morphology	4763	NF1	ORPHA:363700
HP:0001633	Abnormal mitral valve morphology	1193	CLIC2	ORPHA:324410
HP:0001633	Abnormal mitral valve morphology	633	BGN	OMIM:300989
HP:0001633	Abnormal mitral valve morphology	3188	HNRNPH2	OMIM:300986
HP:0001633	Abnormal mitral valve morphology	1280	COL2A1	ORPHA:90653
HP:0001633	Abnormal mitral valve morphology	1280	COL2A1	OMIM:108300
HP:0001633	Abnormal mitral valve morphology	200734	SPRED2	OMIM:619745
HP:0001633	Abnormal mitral valve morphology	4089	SMAD4	OMIM:175050
HP:0001633	Abnormal mitral valve morphology	6885	MAP3K7	ORPHA:3238
HP:0001633	Abnormal mitral valve morphology	5337	PLD1	OMIM:212093
HP:0001633	Abnormal mitral valve morphology	6261	RYR1	ORPHA:597
HP:0001633	Abnormal mitral valve morphology	7450	VWF	OMIM:193400
HP:0001633	Abnormal mitral valve morphology	10526	IPO8	OMIM:619472
HP:0001633	Abnormal mitral valve morphology	2033	EP300	OMIM:180849
HP:0001633	Abnormal mitral valve morphology	1387	CREBBP	OMIM:180849
HP:0001633	Abnormal mitral valve morphology	6125	RPL5	OMIM:612561
HP:0001633	Abnormal mitral valve morphology	3845	KRAS	OMIM:615278
HP:0001633	Abnormal mitral valve morphology	3845	KRAS	OMIM:609942
HP:0001633	Abnormal mitral valve morphology	6804	STX1A	ORPHA:904
HP:0001633	Abnormal mitral valve morphology	7461	CLIP2	ORPHA:904
HP:0001633	Abnormal mitral valve morphology	84277	DNAJC30	ORPHA:904
HP:0001633	Abnormal mitral valve morphology	8468	FKBP6	ORPHA:904
HP:0001633	Abnormal mitral valve morphology	5982	RFC2	ORPHA:904
HP:0001633	Abnormal mitral valve morphology	2969	GTF2I	ORPHA:904
HP:0001633	Abnormal mitral valve morphology	3984	LIMK1	ORPHA:904
HP:0001633	Abnormal mitral valve morphology	9569	GTF2IRD1	ORPHA:904
HP:0001633	Abnormal mitral valve morphology	155382	VPS37D	ORPHA:904
HP:0001633	Abnormal mitral valve morphology	155368	METTL27	ORPHA:904
HP:0001633	Abnormal mitral valve morphology	114049	BUD23	ORPHA:904
HP:0001633	Abnormal mitral valve morphology	7458	EIF4H	ORPHA:904
HP:0001633	Abnormal mitral valve morphology	84163	GTF2IRD2	ORPHA:904
HP:0001633	Abnormal mitral valve morphology	26608	TBL2	ORPHA:904
HP:0001633	Abnormal mitral valve morphology	653361	NCF1	ORPHA:904
HP:0001633	Abnormal mitral valve morphology	135886	TMEM270	ORPHA:904
HP:0001633	Abnormal mitral valve morphology	9031	BAZ1B	ORPHA:904
HP:0001633	Abnormal mitral valve morphology	2006	ELN	ORPHA:904
HP:0001633	Abnormal mitral valve morphology	2006	ELN	OMIM:194050
HP:0001633	Abnormal mitral valve morphology	285590	SH3PXD2B	ORPHA:137834
HP:0001633	Abnormal mitral valve morphology	285590	SH3PXD2B	OMIM:249420
HP:0001633	Abnormal mitral valve morphology	286	ANK1	ORPHA:251066
HP:0001633	Abnormal mitral valve morphology	113189	CHST14	OMIM:601776
HP:0001633	Abnormal mitral valve morphology	368	ABCC6	OMIM:177850
HP:0001633	Abnormal mitral valve morphology	368	ABCC6	OMIM:264800
HP:0001633	Abnormal mitral valve morphology	368	ABCC6	ORPHA:758
HP:0001633	Abnormal mitral valve morphology	64131	XYLT1	OMIM:264800
HP:0001633	Abnormal mitral valve morphology	5594	MAPK1	OMIM:619087
HP:0001633	Abnormal mitral valve morphology	10551	AGR2	OMIM:620233
HP:0001633	Abnormal mitral valve morphology	51085	MLXIPL	OMIM:194050
HP:0001633	Abnormal mitral valve morphology	11107	PRDM5	ORPHA:90354
HP:0001633	Abnormal mitral valve morphology	6497	SKI	OMIM:182212
HP:0001633	Abnormal mitral valve morphology	6497	SKI	ORPHA:2462
HP:0001633	Abnormal mitral valve morphology	126792	B3GALT6	ORPHA:536467
HP:0001633	Abnormal mitral valve morphology	4088	SMAD3	OMIM:613795
HP:0001633	Abnormal mitral valve morphology	7048	TGFBR2	OMIM:610168
HP:0001633	Abnormal mitral valve morphology	22873	DZIP1	OMIM:610840
HP:0001633	Abnormal mitral valve morphology	6533	SLC6A6	OMIM:145350
HP:0001633	Abnormal mitral valve morphology	875	CBS	OMIM:236200
HP:0001633	Abnormal mitral valve morphology	6910	TBX5	OMIM:142900
HP:0001633	Abnormal mitral valve morphology	9469	CHST3	OMIM:245600
HP:0001633	Abnormal mitral valve morphology	26229	B3GAT3	OMIM:245600
HP:0001633	Abnormal mitral valve morphology	56652	TWNK	OMIM:607459
HP:0001633	Abnormal mitral valve morphology	4883	NPR3	OMIM:619543
HP:0001633	Abnormal mitral valve morphology	529	ATP6V1E1	OMIM:617402
HP:0001633	Abnormal mitral valve morphology	7046	TGFBR1	OMIM:609192
HP:0001633	Abnormal mitral valve morphology	2582	GALE	OMIM:620776
HP:0001633	Abnormal mitral valve morphology	5167	ENPP1	ORPHA:758
HP:0001633	Abnormal mitral valve morphology	161742	SPRED1	ORPHA:137605
HP:0001633	Abnormal mitral valve morphology	7042	TGFB2	OMIM:614816
HP:0001633	Abnormal mitral valve morphology	3081	HGD	ORPHA:56
HP:0001633	Abnormal mitral valve morphology	3081	HGD	OMIM:203500
HP:0001633	Abnormal mitral valve morphology	64135	IFIH1	OMIM:182250
HP:0001633	Abnormal mitral valve morphology	2629	GBA1	OMIM:231005
HP:0001633	Abnormal mitral valve morphology	2629	GBA1	ORPHA:77261
HP:0001633	Abnormal mitral valve morphology	2629	GBA1	ORPHA:2072
HP:0001633	Abnormal mitral valve morphology	10568	SLC34A2	ORPHA:60025
HP:0001633	Abnormal mitral valve morphology	10651	MTX2	OMIM:619127
HP:0001633	Abnormal mitral valve morphology	23118	TAB2	OMIM:614980
HP:0001633	Abnormal mitral valve morphology	7547	ZIC3	OMIM:306955
HP:0001633	Abnormal mitral valve morphology	10128	LRPPRC	OMIM:220111
HP:0001633	Abnormal mitral valve morphology	84231	TRAF7	OMIM:618164
HP:0001633	Abnormal mitral valve morphology	92002	CCNQ	ORPHA:140952
HP:0001633	Abnormal mitral valve morphology	2697	GJA1	ORPHA:2248
HP:0001633	Abnormal mitral valve morphology	55784	MCTP2	ORPHA:1596
HP:0001633	Abnormal mitral valve morphology	4087	SMAD2	OMIM:619657
HP:0001633	Abnormal mitral valve morphology	2783	GNB2	OMIM:619503
HP:0001633	Abnormal mitral valve morphology	118856	MMP21	OMIM:616749
HP:0001633	Abnormal mitral valve morphology	23129	PLXND1	OMIM:620294
HP:0001633	Abnormal mitral valve morphology	4851	NOTCH1	OMIM:109730
HP:0001633	Abnormal mitral valve morphology	6597	SMARCA4	OMIM:614609
HP:0001633	Abnormal mitral valve morphology	164781	DAW1	OMIM:620570
HP:0001633	Abnormal mitral valve morphology	25885	POLR1A	OMIM:616462
HP:0001633	Abnormal mitral valve morphology	2294	FOXF1	OMIM:265380
HP:0001633	Abnormal mitral valve morphology	9772	TMEM94	OMIM:618316
HP:0001633	Abnormal mitral valve morphology	7058	THBS2	OMIM:620865
HP:0001634	Mitral valve prolapse	64132	XYLT2	OMIM:605822
HP:0001634	Mitral valve prolapse	64132	XYLT2	OMIM:264800
HP:0001634	Mitral valve prolapse	2137	EXTL3	ORPHA:508533
HP:0001634	Mitral valve prolapse	57190	SELENON	ORPHA:324604
HP:0001634	Mitral valve prolapse	4625	MYH7	ORPHA:324604
HP:0001634	Mitral valve prolapse	7273	TTN	ORPHA:324604
HP:0001634	Mitral valve prolapse	10262	SF3B4	OMIM:154400
HP:0001634	Mitral valve prolapse	8216	LZTR1	OMIM:616564
HP:0001634	Mitral valve prolapse	8216	LZTR1	OMIM:605275
HP:0001634	Mitral valve prolapse	9158	FIBP	ORPHA:500095
HP:0001634	Mitral valve prolapse	9158	FIBP	OMIM:617107
HP:0001634	Mitral valve prolapse	8076	MFAP5	OMIM:616166
HP:0001634	Mitral valve prolapse	84627	ZNF469	OMIM:229200
HP:0001634	Mitral valve prolapse	84627	ZNF469	ORPHA:90354
HP:0001634	Mitral valve prolapse	7148	TNXB	ORPHA:230839
HP:0001634	Mitral valve prolapse	7148	TNXB	OMIM:606408
HP:0001634	Mitral valve prolapse	2972	BRF1	OMIM:616202
HP:0001634	Mitral valve prolapse	2972	BRF1	ORPHA:444072
HP:0001634	Mitral valve prolapse	23394	ADNP	OMIM:615873
HP:0001634	Mitral valve prolapse	652	BMP4	ORPHA:828
HP:0001634	Mitral valve prolapse	6091	ROBO1	OMIM:620305
HP:0001634	Mitral valve prolapse	2316	FLNA	OMIM:314400
HP:0001634	Mitral valve prolapse	2316	FLNA	OMIM:305620
HP:0001634	Mitral valve prolapse	2316	FLNA	ORPHA:555877
HP:0001634	Mitral valve prolapse	2316	FLNA	OMIM:309350
HP:0001634	Mitral valve prolapse	170689	ADAMTS15	OMIM:620545
HP:0001634	Mitral valve prolapse	5428	POLG	OMIM:258450
HP:0001634	Mitral valve prolapse	5428	POLG	OMIM:607459
HP:0001634	Mitral valve prolapse	2200	FBN1	ORPHA:284979
HP:0001634	Mitral valve prolapse	2200	FBN1	OMIM:129600
HP:0001634	Mitral valve prolapse	2200	FBN1	OMIM:154700
HP:0001634	Mitral valve prolapse	2200	FBN1	OMIM:604308
HP:0001634	Mitral valve prolapse	2200	FBN1	OMIM:616914
HP:0001634	Mitral valve prolapse	2200	FBN1	OMIM:614185
HP:0001634	Mitral valve prolapse	2200	FBN1	ORPHA:2462
HP:0001634	Mitral valve prolapse	10021	HCN4	OMIM:163800
HP:0001634	Mitral valve prolapse	55315	SLC29A3	OMIM:602782
HP:0001634	Mitral valve prolapse	4054	LTBP3	OMIM:601216
HP:0001634	Mitral valve prolapse	1278	COL1A2	ORPHA:230851
HP:0001634	Mitral valve prolapse	1278	COL1A2	OMIM:225320
HP:0001634	Mitral valve prolapse	2201	FBN2	OMIM:121050
HP:0001634	Mitral valve prolapse	2201	FBN2	ORPHA:115
HP:0001634	Mitral valve prolapse	10216	PRG4	ORPHA:2848
HP:0001634	Mitral valve prolapse	1281	COL3A1	OMIM:130050
HP:0001634	Mitral valve prolapse	1281	COL3A1	ORPHA:286
HP:0001634	Mitral valve prolapse	51726	DNAJB11	ORPHA:730
HP:0001634	Mitral valve prolapse	23193	GANAB	ORPHA:730
HP:0001634	Mitral valve prolapse	5310	PKD1	ORPHA:730
HP:0001634	Mitral valve prolapse	5310	PKD1	OMIM:173900
HP:0001634	Mitral valve prolapse	5311	PKD2	ORPHA:730
HP:0001634	Mitral valve prolapse	29880	ALG5	ORPHA:730
HP:0001634	Mitral valve prolapse	9742	IFT140	ORPHA:730
HP:0001634	Mitral valve prolapse	79796	ALG9	ORPHA:730
HP:0001634	Mitral valve prolapse	80114	BICC1	ORPHA:730
HP:0001634	Mitral valve prolapse	3074	HEXB	ORPHA:309155
HP:0001634	Mitral valve prolapse	2332	FMR1	ORPHA:449291
HP:0001634	Mitral valve prolapse	2332	FMR1	OMIM:300624
HP:0001634	Mitral valve prolapse	2332	FMR1	ORPHA:908
HP:0001634	Mitral valve prolapse	8642	DCHS1	OMIM:607829
HP:0001634	Mitral valve prolapse	84665	MYPN	ORPHA:171881
HP:0001634	Mitral valve prolapse	7169	TPM2	ORPHA:171881
HP:0001634	Mitral valve prolapse	7170	TPM3	ORPHA:171881
HP:0001634	Mitral valve prolapse	165	AEBP1	OMIM:618000
HP:0001634	Mitral valve prolapse	165	AEBP1	ORPHA:536532
HP:0001634	Mitral valve prolapse	54880	BCOR	ORPHA:2712
HP:0001634	Mitral valve prolapse	54880	BCOR	OMIM:300166
HP:0001634	Mitral valve prolapse	9968	MED12	ORPHA:93932
HP:0001634	Mitral valve prolapse	29940	DSE	OMIM:615539
HP:0001634	Mitral valve prolapse	5351	PLOD1	ORPHA:1900
HP:0001634	Mitral valve prolapse	54539	NDUFB11	ORPHA:2556
HP:0001634	Mitral valve prolapse	1349	COX7B	ORPHA:2556
HP:0001634	Mitral valve prolapse	3052	HCCS	ORPHA:2556
HP:0001634	Mitral valve prolapse	157680	VPS13B	OMIM:216550
HP:0001634	Mitral valve prolapse	157680	VPS13B	ORPHA:193
HP:0001634	Mitral valve prolapse	4313	MMP2	ORPHA:371428
HP:0001634	Mitral valve prolapse	4313	MMP2	OMIM:259600
HP:0001634	Mitral valve prolapse	4323	MMP14	ORPHA:371428
HP:0001634	Mitral valve prolapse	1277	COL1A1	ORPHA:287
HP:0001634	Mitral valve prolapse	1277	COL1A1	OMIM:166200
HP:0001634	Mitral valve prolapse	1289	COL5A1	ORPHA:287
HP:0001634	Mitral valve prolapse	1289	COL5A1	OMIM:130000
HP:0001634	Mitral valve prolapse	1290	COL5A2	ORPHA:287
HP:0001634	Mitral valve prolapse	3265	HRAS	ORPHA:3071
HP:0001634	Mitral valve prolapse	3265	HRAS	OMIM:218040
HP:0001634	Mitral valve prolapse	7703	PCGF2	OMIM:618371
HP:0001634	Mitral valve prolapse	56776	FMN2	OMIM:616193
HP:0001634	Mitral valve prolapse	26278	SACS	ORPHA:98
HP:0001634	Mitral valve prolapse	4763	NF1	ORPHA:363700
HP:0001634	Mitral valve prolapse	1193	CLIC2	ORPHA:324410
HP:0001634	Mitral valve prolapse	633	BGN	OMIM:300989
HP:0001634	Mitral valve prolapse	3188	HNRNPH2	OMIM:300986
HP:0001634	Mitral valve prolapse	1280	COL2A1	ORPHA:90653
HP:0001634	Mitral valve prolapse	1280	COL2A1	OMIM:108300
HP:0001634	Mitral valve prolapse	200734	SPRED2	OMIM:619745
HP:0001634	Mitral valve prolapse	4000	LMNA	ORPHA:79474
HP:0001634	Mitral valve prolapse	4089	SMAD4	OMIM:175050
HP:0001634	Mitral valve prolapse	6885	MAP3K7	ORPHA:3238
HP:0001634	Mitral valve prolapse	5337	PLD1	OMIM:212093
HP:0001634	Mitral valve prolapse	6261	RYR1	ORPHA:597
HP:0001634	Mitral valve prolapse	7450	VWF	OMIM:193400
HP:0001634	Mitral valve prolapse	10526	IPO8	OMIM:619472
HP:0001634	Mitral valve prolapse	2033	EP300	OMIM:180849
HP:0001634	Mitral valve prolapse	1387	CREBBP	OMIM:180849
HP:0001634	Mitral valve prolapse	6125	RPL5	OMIM:612561
HP:0001634	Mitral valve prolapse	3845	KRAS	OMIM:615278
HP:0001634	Mitral valve prolapse	3845	KRAS	OMIM:609942
HP:0001634	Mitral valve prolapse	6804	STX1A	ORPHA:904
HP:0001634	Mitral valve prolapse	7461	CLIP2	ORPHA:904
HP:0001634	Mitral valve prolapse	84277	DNAJC30	ORPHA:904
HP:0001634	Mitral valve prolapse	8468	FKBP6	ORPHA:904
HP:0001634	Mitral valve prolapse	5982	RFC2	ORPHA:904
HP:0001634	Mitral valve prolapse	2969	GTF2I	ORPHA:904
HP:0001634	Mitral valve prolapse	3984	LIMK1	ORPHA:904
HP:0001634	Mitral valve prolapse	9569	GTF2IRD1	ORPHA:904
HP:0001634	Mitral valve prolapse	155382	VPS37D	ORPHA:904
HP:0001634	Mitral valve prolapse	155368	METTL27	ORPHA:904
HP:0001634	Mitral valve prolapse	114049	BUD23	ORPHA:904
HP:0001634	Mitral valve prolapse	7458	EIF4H	ORPHA:904
HP:0001634	Mitral valve prolapse	84163	GTF2IRD2	ORPHA:904
HP:0001634	Mitral valve prolapse	26608	TBL2	ORPHA:904
HP:0001634	Mitral valve prolapse	653361	NCF1	ORPHA:904
HP:0001634	Mitral valve prolapse	135886	TMEM270	ORPHA:904
HP:0001634	Mitral valve prolapse	9031	BAZ1B	ORPHA:904
HP:0001634	Mitral valve prolapse	2006	ELN	ORPHA:904
HP:0001634	Mitral valve prolapse	2006	ELN	OMIM:194050
HP:0001634	Mitral valve prolapse	285590	SH3PXD2B	ORPHA:137834
HP:0001634	Mitral valve prolapse	285590	SH3PXD2B	OMIM:249420
HP:0001634	Mitral valve prolapse	286	ANK1	ORPHA:251066
HP:0001634	Mitral valve prolapse	5781	PTPN11	ORPHA:500
HP:0001634	Mitral valve prolapse	5781	PTPN11	OMIM:151100
HP:0001634	Mitral valve prolapse	673	BRAF	ORPHA:500
HP:0001634	Mitral valve prolapse	5894	RAF1	ORPHA:500
HP:0001634	Mitral valve prolapse	113189	CHST14	OMIM:601776
HP:0001634	Mitral valve prolapse	368	ABCC6	OMIM:177850
HP:0001634	Mitral valve prolapse	368	ABCC6	OMIM:264800
HP:0001634	Mitral valve prolapse	368	ABCC6	ORPHA:758
HP:0001634	Mitral valve prolapse	64131	XYLT1	OMIM:264800
HP:0001634	Mitral valve prolapse	5594	MAPK1	OMIM:619087
HP:0001634	Mitral valve prolapse	10551	AGR2	OMIM:620233
HP:0001634	Mitral valve prolapse	51085	MLXIPL	OMIM:194050
HP:0001634	Mitral valve prolapse	11107	PRDM5	ORPHA:90354
HP:0001634	Mitral valve prolapse	6497	SKI	OMIM:182212
HP:0001634	Mitral valve prolapse	6497	SKI	ORPHA:2462
HP:0001634	Mitral valve prolapse	126792	B3GALT6	ORPHA:536467
HP:0001634	Mitral valve prolapse	4088	SMAD3	OMIM:613795
HP:0001634	Mitral valve prolapse	7048	TGFBR2	OMIM:610168
HP:0001634	Mitral valve prolapse	22873	DZIP1	OMIM:610840
HP:0001634	Mitral valve prolapse	6533	SLC6A6	OMIM:145350
HP:0001634	Mitral valve prolapse	875	CBS	OMIM:236200
HP:0001634	Mitral valve prolapse	6910	TBX5	OMIM:142900
HP:0001634	Mitral valve prolapse	9469	CHST3	OMIM:245600
HP:0001634	Mitral valve prolapse	26229	B3GAT3	OMIM:245600
HP:0001634	Mitral valve prolapse	56652	TWNK	OMIM:607459
HP:0001634	Mitral valve prolapse	4883	NPR3	OMIM:619543
HP:0001634	Mitral valve prolapse	529	ATP6V1E1	OMIM:617402
HP:0001634	Mitral valve prolapse	7046	TGFBR1	OMIM:609192
HP:0001634	Mitral valve prolapse	2582	GALE	OMIM:620776
HP:0001634	Mitral valve prolapse	5167	ENPP1	ORPHA:758
HP:0001634	Mitral valve prolapse	161742	SPRED1	ORPHA:137605
HP:0001634	Mitral valve prolapse	7042	TGFB2	OMIM:614816
HP:0001634	Mitral valve prolapse	23118	TAB2	OMIM:614980
HP:0001635	Congestive heart failure	6389	SDHA	ORPHA:154
HP:0001635	Congestive heart failure	6389	SDHA	OMIM:613642
HP:0001635	Congestive heart failure	6389	SDHA	ORPHA:29072
HP:0001635	Congestive heart failure	6389	SDHA	OMIM:619259
HP:0001635	Congestive heart failure	10486	CAP2	ORPHA:154
HP:0001635	Congestive heart failure	7716	VEZF1	ORPHA:154
HP:0001635	Congestive heart failure	7716	VEZF1	OMIM:620247
HP:0001635	Congestive heart failure	10060	ABCC9	ORPHA:154
HP:0001635	Congestive heart failure	10060	ABCC9	OMIM:608569
HP:0001635	Congestive heart failure	7168	TPM1	ORPHA:154
HP:0001635	Congestive heart failure	7168	TPM1	OMIM:611878
HP:0001635	Congestive heart failure	27063	ANKRD1	ORPHA:154
HP:0001635	Congestive heart failure	1410	CRYAB	ORPHA:154
HP:0001635	Congestive heart failure	439	GET3	ORPHA:154
HP:0001635	Congestive heart failure	7273	TTN	ORPHA:154
HP:0001635	Congestive heart failure	7273	TTN	OMIM:611705
HP:0001635	Congestive heart failure	7273	TTN	ORPHA:324604
HP:0001635	Congestive heart failure	7273	TTN	OMIM:604145
HP:0001635	Congestive heart failure	5350	PLN	ORPHA:154
HP:0001635	Congestive heart failure	5350	PLN	OMIM:609909
HP:0001635	Congestive heart failure	5664	PSEN2	ORPHA:154
HP:0001635	Congestive heart failure	5664	PSEN2	OMIM:613697
HP:0001635	Congestive heart failure	9529	BAG5	ORPHA:154
HP:0001635	Congestive heart failure	9529	BAG5	OMIM:619747
HP:0001635	Congestive heart failure	4607	MYBPC3	ORPHA:154
HP:0001635	Congestive heart failure	4607	MYBPC3	OMIM:115197
HP:0001635	Congestive heart failure	4607	MYBPC3	OMIM:615396
HP:0001635	Congestive heart failure	11155	LDB3	ORPHA:154
HP:0001635	Congestive heart failure	11155	LDB3	OMIM:601493
HP:0001635	Congestive heart failure	2274	FHL2	ORPHA:154
HP:0001635	Congestive heart failure	1756	DMD	ORPHA:154
HP:0001635	Congestive heart failure	1756	DMD	OMIM:310200
HP:0001635	Congestive heart failure	1756	DMD	ORPHA:206546
HP:0001635	Congestive heart failure	84665	MYPN	ORPHA:154
HP:0001635	Congestive heart failure	84665	MYPN	OMIM:615248
HP:0001635	Congestive heart failure	1674	DES	ORPHA:154
HP:0001635	Congestive heart failure	1674	DES	OMIM:604765
HP:0001635	Congestive heart failure	1674	DES	ORPHA:98909
HP:0001635	Congestive heart failure	442721	LMOD2	ORPHA:154
HP:0001635	Congestive heart failure	8557	TCAP	ORPHA:154
HP:0001635	Congestive heart failure	57158	JPH2	ORPHA:154
HP:0001635	Congestive heart failure	9015	TAF1A	ORPHA:154
HP:0001635	Congestive heart failure	5663	PSEN1	ORPHA:154
HP:0001635	Congestive heart failure	5663	PSEN1	OMIM:613694
HP:0001635	Congestive heart failure	7112	TMPO	ORPHA:154
HP:0001635	Congestive heart failure	9464	HAND2	ORPHA:154
HP:0001635	Congestive heart failure	4625	MYH7	ORPHA:154
HP:0001635	Congestive heart failure	4625	MYH7	ORPHA:1880
HP:0001635	Congestive heart failure	4625	MYH7	OMIM:613426
HP:0001635	Congestive heart failure	4625	MYH7	ORPHA:324604
HP:0001635	Congestive heart failure	4625	MYH7	OMIM:255160
HP:0001635	Congestive heart failure	4625	MYH7	OMIM:192600
HP:0001635	Congestive heart failure	88	ACTN2	ORPHA:154
HP:0001635	Congestive heart failure	88	ACTN2	OMIM:618654
HP:0001635	Congestive heart failure	7414	VCL	ORPHA:154
HP:0001635	Congestive heart failure	7414	VCL	OMIM:613255
HP:0001635	Congestive heart failure	1832	DSP	ORPHA:154
HP:0001635	Congestive heart failure	1832	DSP	ORPHA:65282
HP:0001635	Congestive heart failure	1832	DSP	OMIM:607450
HP:0001635	Congestive heart failure	1832	DSP	OMIM:605676
HP:0001635	Congestive heart failure	70	ACTC1	ORPHA:154
HP:0001635	Congestive heart failure	70	ACTC1	OMIM:612098
HP:0001635	Congestive heart failure	70	ACTC1	OMIM:613424
HP:0001635	Congestive heart failure	70	ACTC1	ORPHA:99103
HP:0001635	Congestive heart failure	6123	RPL3L	ORPHA:154
HP:0001635	Congestive heart failure	8048	CSRP3	ORPHA:154
HP:0001635	Congestive heart failure	8048	CSRP3	OMIM:607482
HP:0001635	Congestive heart failure	4000	LMNA	ORPHA:154
HP:0001635	Congestive heart failure	4000	LMNA	OMIM:176670
HP:0001635	Congestive heart failure	4000	LMNA	ORPHA:280365
HP:0001635	Congestive heart failure	4000	LMNA	ORPHA:157973
HP:0001635	Congestive heart failure	4000	LMNA	ORPHA:2348
HP:0001635	Congestive heart failure	4000	LMNA	ORPHA:300751
HP:0001635	Congestive heart failure	4000	LMNA	OMIM:151660
HP:0001635	Congestive heart failure	4000	LMNA	ORPHA:79474
HP:0001635	Congestive heart failure	4000	LMNA	OMIM:115200
HP:0001635	Congestive heart failure	4000	LMNA	ORPHA:363618
HP:0001635	Congestive heart failure	7139	TNNT2	ORPHA:154
HP:0001635	Congestive heart failure	7139	TNNT2	OMIM:601494
HP:0001635	Congestive heart failure	1829	DSG2	ORPHA:154
HP:0001635	Congestive heart failure	1829	DSG2	OMIM:612877
HP:0001635	Congestive heart failure	3910	LAMA4	ORPHA:154
HP:0001635	Congestive heart failure	63976	PRDM16	ORPHA:154
HP:0001635	Congestive heart failure	63976	PRDM16	OMIM:615373
HP:0001635	Congestive heart failure	10587	TXNRD2	ORPHA:154
HP:0001635	Congestive heart failure	9531	BAG3	ORPHA:154
HP:0001635	Congestive heart failure	9531	BAG3	OMIM:613881
HP:0001635	Congestive heart failure	91624	NEXN	ORPHA:154
HP:0001635	Congestive heart failure	79717	PPCS	ORPHA:154
HP:0001635	Congestive heart failure	4624	MYH6	ORPHA:154
HP:0001635	Congestive heart failure	4624	MYH6	OMIM:192600
HP:0001635	Congestive heart failure	4624	MYH6	ORPHA:99103
HP:0001635	Congestive heart failure	4624	MYH6	OMIM:613251
HP:0001635	Congestive heart failure	4624	MYH6	OMIM:613252
HP:0001635	Congestive heart failure	282996	RBM20	ORPHA:154
HP:0001635	Congestive heart failure	282996	RBM20	OMIM:613172
HP:0001635	Congestive heart failure	7137	TNNI3	ORPHA:154
HP:0001635	Congestive heart failure	7137	TNNI3	OMIM:611880
HP:0001635	Congestive heart failure	7137	TNNI3	OMIM:613286
HP:0001635	Congestive heart failure	6901	TAFAZZIN	ORPHA:154
HP:0001635	Congestive heart failure	6901	TAFAZZIN	OMIM:302060
HP:0001635	Congestive heart failure	22845	DOLK	ORPHA:154
HP:0001635	Congestive heart failure	22845	DOLK	ORPHA:91131
HP:0001635	Congestive heart failure	5894	RAF1	ORPHA:154
HP:0001635	Congestive heart failure	5894	RAF1	OMIM:615916
HP:0001635	Congestive heart failure	57798	GATAD1	ORPHA:154
HP:0001635	Congestive heart failure	57798	GATAD1	OMIM:614672
HP:0001635	Congestive heart failure	7134	TNNC1	ORPHA:154
HP:0001635	Congestive heart failure	7134	TNNC1	OMIM:611879
HP:0001635	Congestive heart failure	6444	SGCD	ORPHA:154
HP:0001635	Congestive heart failure	6444	SGCD	OMIM:606685
HP:0001635	Congestive heart failure	6331	SCN5A	ORPHA:154
HP:0001635	Congestive heart failure	6331	SCN5A	ORPHA:1344
HP:0001635	Congestive heart failure	6331	SCN5A	ORPHA:871
HP:0001635	Congestive heart failure	2218	FKTN	ORPHA:154
HP:0001635	Congestive heart failure	2070	EYA4	ORPHA:217622
HP:0001635	Congestive heart failure	2070	EYA4	OMIM:605362
HP:0001635	Congestive heart failure	55654	TMEM127	OMIM:171300
HP:0001635	Congestive heart failure	55654	TMEM127	ORPHA:29072
HP:0001635	Congestive heart failure	4149	MAX	OMIM:171300
HP:0001635	Congestive heart failure	4149	MAX	ORPHA:29072
HP:0001635	Congestive heart failure	5979	RET	OMIM:171300
HP:0001635	Congestive heart failure	5979	RET	ORPHA:276621
HP:0001635	Congestive heart failure	5979	RET	ORPHA:29072
HP:0001635	Congestive heart failure	7428	VHL	OMIM:171300
HP:0001635	Congestive heart failure	7428	VHL	ORPHA:276621
HP:0001635	Congestive heart failure	7428	VHL	ORPHA:29072
HP:0001635	Congestive heart failure	2316	FLNA	OMIM:314400
HP:0001635	Congestive heart failure	148738	HJV	OMIM:602390
HP:0001635	Congestive heart failure	114803	MYSM1	ORPHA:508542
HP:0001635	Congestive heart failure	54968	TMEM70	ORPHA:1194
HP:0001635	Congestive heart failure	6341	SCO1	OMIM:619048
HP:0001635	Congestive heart failure	65082	VPS33A	OMIM:617303
HP:0001635	Congestive heart failure	65082	VPS33A	ORPHA:505248
HP:0001635	Congestive heart failure	25782	RAB3GAP2	OMIM:212720
HP:0001635	Congestive heart failure	79158	GNPTAB	OMIM:252500
HP:0001635	Congestive heart failure	79158	GNPTAB	ORPHA:423461
HP:0001635	Congestive heart failure	4574	MT-TS1	OMIM:540000
HP:0001635	Congestive heart failure	4575	MT-TS2	OMIM:540000
HP:0001635	Congestive heart failure	4535	MT-ND1	OMIM:540000
HP:0001635	Congestive heart failure	4567	MT-TL1	OMIM:540000
HP:0001635	Congestive heart failure	4512	MT-CO1	OMIM:540000
HP:0001635	Congestive heart failure	4513	MT-CO2	OMIM:540000
HP:0001635	Congestive heart failure	4514	MT-CO3	OMIM:540000
HP:0001635	Congestive heart failure	4519	MT-CYB	OMIM:540000
HP:0001635	Congestive heart failure	4519	MT-CYB	ORPHA:137675
HP:0001635	Congestive heart failure	4511	MT-TC	OMIM:540000
HP:0001635	Congestive heart failure	4572	MT-TQ	OMIM:540000
HP:0001635	Congestive heart failure	4577	MT-TV	OMIM:540000
HP:0001635	Congestive heart failure	4578	MT-TW	OMIM:540000
HP:0001635	Congestive heart failure	4558	MT-TF	OMIM:540000
HP:0001635	Congestive heart failure	4566	MT-TK	OMIM:540000
HP:0001635	Congestive heart failure	4566	MT-TK	ORPHA:1349
HP:0001635	Congestive heart failure	4540	MT-ND5	OMIM:540000
HP:0001635	Congestive heart failure	4541	MT-ND6	OMIM:540000
HP:0001635	Congestive heart failure	2859	GPR35	ORPHA:171
HP:0001635	Congestive heart failure	10507	SEMA4D	ORPHA:171
HP:0001635	Congestive heart failure	4485	MST1	ORPHA:171
HP:0001635	Congestive heart failure	6925	TCF4	ORPHA:171
HP:0001635	Congestive heart failure	5468	PPARG	ORPHA:79083
HP:0001635	Congestive heart failure	5468	PPARG	ORPHA:528
HP:0001635	Congestive heart failure	55109	AGGF1	ORPHA:90308
HP:0001635	Congestive heart failure	5290	PIK3CA	ORPHA:90308
HP:0001635	Congestive heart failure	1788	DNMT3A	ORPHA:276621
HP:0001635	Congestive heart failure	2034	EPAS1	ORPHA:276621
HP:0001635	Congestive heart failure	6392	SDHD	ORPHA:276621
HP:0001635	Congestive heart failure	6392	SDHD	ORPHA:29072
HP:0001635	Congestive heart failure	6390	SDHB	ORPHA:276621
HP:0001635	Congestive heart failure	6390	SDHB	ORPHA:29072
HP:0001635	Congestive heart failure	7840	ALMS1	OMIM:203800
HP:0001635	Congestive heart failure	7840	ALMS1	ORPHA:64
HP:0001635	Congestive heart failure	1193	CLIC2	ORPHA:324410
HP:0001635	Congestive heart failure	64121	RRAGC	OMIM:620609
HP:0001635	Congestive heart failure	9997	SCO2	OMIM:608908
HP:0001635	Congestive heart failure	9997	SCO2	OMIM:604377
HP:0001635	Congestive heart failure	5167	ENPP1	OMIM:208000
HP:0001635	Congestive heart failure	51086	TNNI3K	OMIM:616117
HP:0001635	Congestive heart failure	4591	TRIM37	OMIM:253250
HP:0001635	Congestive heart failure	84984	CEP19	OMIM:615703
HP:0001635	Congestive heart failure	28976	ACAD9	ORPHA:99901
HP:0001635	Congestive heart failure	28976	ACAD9	OMIM:611126
HP:0001635	Congestive heart failure	10370	CITED2	ORPHA:99105
HP:0001635	Congestive heart failure	10370	CITED2	ORPHA:99103
HP:0001635	Congestive heart failure	3039	HBA1	ORPHA:163596
HP:0001635	Congestive heart failure	3040	HBA2	ORPHA:163596
HP:0001635	Congestive heart failure	7092	TLL1	ORPHA:99106
HP:0001635	Congestive heart failure	7092	TLL1	ORPHA:99103
HP:0001635	Congestive heart failure	6772	STAT1	ORPHA:391487
HP:0001635	Congestive heart failure	3572	IL6ST	OMIM:619751
HP:0001635	Congestive heart failure	2261	FGFR3	OMIM:616482
HP:0001635	Congestive heart failure	23118	TAB2	OMIM:614980
HP:0001635	Congestive heart failure	51422	PRKAG2	OMIM:600858
HP:0001635	Congestive heart failure	51422	PRKAG2	OMIM:261740
HP:0001635	Congestive heart failure	1743	DLST	ORPHA:29072
HP:0001635	Congestive heart failure	4191	MDH2	ORPHA:29072
HP:0001635	Congestive heart failure	23095	KIF1B	ORPHA:29072
HP:0001635	Congestive heart failure	2271	FH	ORPHA:29072
HP:0001635	Congestive heart failure	8402	SLC25A11	ORPHA:29072
HP:0001635	Congestive heart failure	54949	SDHAF2	ORPHA:29072
HP:0001635	Congestive heart failure	4763	NF1	ORPHA:29072
HP:0001635	Congestive heart failure	6391	SDHC	ORPHA:29072
HP:0001635	Congestive heart failure	6804	STX1A	ORPHA:904
HP:0001635	Congestive heart failure	7461	CLIP2	ORPHA:904
HP:0001635	Congestive heart failure	84277	DNAJC30	ORPHA:904
HP:0001635	Congestive heart failure	8468	FKBP6	ORPHA:904
HP:0001635	Congestive heart failure	5982	RFC2	ORPHA:904
HP:0001635	Congestive heart failure	2969	GTF2I	ORPHA:904
HP:0001635	Congestive heart failure	3984	LIMK1	ORPHA:904
HP:0001635	Congestive heart failure	9569	GTF2IRD1	ORPHA:904
HP:0001635	Congestive heart failure	155382	VPS37D	ORPHA:904
HP:0001635	Congestive heart failure	155368	METTL27	ORPHA:904
HP:0001635	Congestive heart failure	114049	BUD23	ORPHA:904
HP:0001635	Congestive heart failure	7458	EIF4H	ORPHA:904
HP:0001635	Congestive heart failure	84163	GTF2IRD2	ORPHA:904
HP:0001635	Congestive heart failure	26608	TBL2	ORPHA:904
HP:0001635	Congestive heart failure	653361	NCF1	ORPHA:904
HP:0001635	Congestive heart failure	135886	TMEM270	ORPHA:904
HP:0001635	Congestive heart failure	9031	BAZ1B	ORPHA:904
HP:0001635	Congestive heart failure	2006	ELN	ORPHA:904
HP:0001635	Congestive heart failure	2006	ELN	ORPHA:90348
HP:0001635	Congestive heart failure	2006	ELN	OMIM:123700
HP:0001635	Congestive heart failure	81031	SLC2A10	ORPHA:3342
HP:0001635	Congestive heart failure	9719	ADAMTSL2	OMIM:231050
HP:0001635	Congestive heart failure	7486	WRN	ORPHA:902
HP:0001635	Congestive heart failure	83475	DOHH	OMIM:620066
HP:0001635	Congestive heart failure	8517	IKBKG	ORPHA:464
HP:0001635	Congestive heart failure	111	ADCY5	OMIM:606703
HP:0001635	Congestive heart failure	111	ADCY5	ORPHA:324588
HP:0001635	Congestive heart failure	2200	FBN1	OMIM:608328
HP:0001635	Congestive heart failure	2200	FBN1	OMIM:154700
HP:0001635	Congestive heart failure	79188	TMEM43	OMIM:604400
HP:0001635	Congestive heart failure	130340	AP1S3	ORPHA:247353
HP:0001635	Congestive heart failure	26525	IL36RN	ORPHA:247353
HP:0001635	Congestive heart failure	27068	PPA2	OMIM:617222
HP:0001635	Congestive heart failure	50485	SMARCAL1	ORPHA:1830
HP:0001635	Congestive heart failure	7276	TTR	ORPHA:85451
HP:0001635	Congestive heart failure	1356	CP	ORPHA:48818
HP:0001635	Congestive heart failure	2050	EPHB4	ORPHA:137667
HP:0001635	Congestive heart failure	5921	RASA1	ORPHA:137667
HP:0001635	Congestive heart failure	2314	FLII	OMIM:620635
HP:0001635	Congestive heart failure	3178	HNRNPA1	ORPHA:52430
HP:0001635	Congestive heart failure	7415	VCP	ORPHA:52430
HP:0001635	Congestive heart failure	3181	HNRNPA2B1	ORPHA:52430
HP:0001635	Congestive heart failure	5573	PRKAR1A	OMIM:160980
HP:0001635	Congestive heart failure	5573	PRKAR1A	ORPHA:1359
HP:0001635	Congestive heart failure	5573	PRKAR1A	ORPHA:615
HP:0001635	Congestive heart failure	57724	EPG5	OMIM:242840
HP:0001635	Congestive heart failure	590	BCHE	ORPHA:132
HP:0001635	Congestive heart failure	2717	GLA	OMIM:301500
HP:0001635	Congestive heart failure	2717	GLA	ORPHA:324
HP:0001635	Congestive heart failure	3423	IDS	OMIM:309900
HP:0001635	Congestive heart failure	2395	FXN	OMIM:229300
HP:0001635	Congestive heart failure	10516	FBLN5	ORPHA:90348
HP:0001635	Congestive heart failure	10516	FBLN5	ORPHA:90349
HP:0001635	Congestive heart failure	5832	ALDH18A1	ORPHA:90348
HP:0001635	Congestive heart failure	2720	GLB1	OMIM:230500
HP:0001635	Congestive heart failure	4052	LTBP1	ORPHA:90349
HP:0001635	Congestive heart failure	30008	EFEMP2	ORPHA:90349
HP:0001635	Congestive heart failure	654	BMP6	ORPHA:465508
HP:0001635	Congestive heart failure	3077	HFE	ORPHA:465508
HP:0001635	Congestive heart failure	3077	HFE	OMIM:235200
HP:0001635	Congestive heart failure	57817	HAMP	OMIM:613313
HP:0001635	Congestive heart failure	54148	MRPL39	OMIM:620646
HP:0001635	Congestive heart failure	6314	ATXN7	ORPHA:94147
HP:0001635	Congestive heart failure	4615	MYD88	ORPHA:33226
HP:0001635	Congestive heart failure	57505	AARS2	OMIM:614096
HP:0001635	Congestive heart failure	81570	CLPB	OMIM:616271
HP:0001635	Congestive heart failure	4069	LYZ	OMIM:620658
HP:0001635	Congestive heart failure	2245	FGD1	ORPHA:915
HP:0001635	Congestive heart failure	335	APOA1	OMIM:620657
HP:0001635	Congestive heart failure	84705	GTPBP3	ORPHA:444013
HP:0001635	Congestive heart failure	84705	GTPBP3	OMIM:616198
HP:0001635	Congestive heart failure	84181	CHD6	ORPHA:2108
HP:0001635	Congestive heart failure	57190	SELENON	ORPHA:324604
HP:0001635	Congestive heart failure	91949	COG7	OMIM:608779
HP:0001635	Congestive heart failure	286053	NSMCE2	OMIM:617253
HP:0001635	Congestive heart failure	5351	PLOD1	OMIM:225400
HP:0001635	Congestive heart failure	5351	PLOD1	ORPHA:1900
HP:0001635	Congestive heart failure	498	ATP5F1A	OMIM:616045
HP:0001635	Congestive heart failure	7167	TPI1	OMIM:615512
HP:0001635	Congestive heart failure	92335	STRADA	ORPHA:500533
HP:0001635	Congestive heart failure	2767	GNA11	ORPHA:428
HP:0001635	Congestive heart failure	846	CASR	ORPHA:428
HP:0001635	Congestive heart failure	54790	TET2	ORPHA:75564
HP:0001635	Congestive heart failure	23451	SF3B1	ORPHA:75564
HP:0001635	Congestive heart failure	6442	SGCA	OMIM:608099
HP:0001635	Congestive heart failure	27125	AFF4	ORPHA:444077
HP:0001635	Congestive heart failure	1837	DTNA	OMIM:604169
HP:0001635	Congestive heart failure	3728	JUP	OMIM:601214
HP:0001635	Congestive heart failure	3728	JUP	ORPHA:34217
HP:0001635	Congestive heart failure	51103	NDUFAF1	OMIM:618234
HP:0001635	Congestive heart failure	5191	PEX7	OMIM:266500
HP:0001635	Congestive heart failure	5264	PHYH	OMIM:266500
HP:0001635	Congestive heart failure	9342	SNAP29	ORPHA:66631
HP:0001635	Congestive heart failure	131118	DNAJC19	OMIM:610198
HP:0001635	Congestive heart failure	10560	SLC19A2	ORPHA:49827
HP:0001635	Congestive heart failure	50940	PDE11A	ORPHA:1359
HP:0001635	Congestive heart failure	64135	IFIH1	OMIM:182250
HP:0001635	Congestive heart failure	54539	NDUFB11	OMIM:301021
HP:0001635	Congestive heart failure	7019	TFAM	OMIM:617156
HP:0001635	Congestive heart failure	4878	NPPA	ORPHA:1344
HP:0001635	Congestive heart failure	10616	RBCK1	OMIM:615895
HP:0001635	Congestive heart failure	1277	COL1A1	OMIM:166210
HP:0001635	Congestive heart failure	1278	COL1A2	OMIM:166210
HP:0001635	Congestive heart failure	9325	TRIP4	OMIM:616866
HP:0001635	Congestive heart failure	4634	MYL3	OMIM:608751
HP:0001635	Congestive heart failure	4547	MTTP	ORPHA:14
HP:0001635	Congestive heart failure	6329	SCN4A	ORPHA:682
HP:0001635	Congestive heart failure	859	CAV3	OMIM:192600
HP:0001635	Congestive heart failure	85366	MYLK2	OMIM:192600
HP:0001635	Congestive heart failure	2318	FLNC	OMIM:617047
HP:0001635	Congestive heart failure	64072	CDH23	ORPHA:91347
HP:0001635	Congestive heart failure	3762	KCNJ5	OMIM:613485
HP:0001635	Congestive heart failure	4204	MECP2	ORPHA:3077
HP:0001635	Congestive heart failure	650	BMP2	OMIM:235200
HP:0001635	Congestive heart failure	54795	TRPM4	ORPHA:871
HP:0001635	Congestive heart failure	1482	NKX2-5	ORPHA:871
HP:0001635	Congestive heart failure	1482	NKX2-5	ORPHA:99103
HP:0001635	Congestive heart failure	6324	SCN1B	ORPHA:871
HP:0001635	Congestive heart failure	57057	TBX20	ORPHA:99103
HP:0001635	Congestive heart failure	2626	GATA4	ORPHA:99103
HP:0001635	Congestive heart failure	2627	GATA6	ORPHA:99103
HP:0001635	Congestive heart failure	51241	COX16	OMIM:619355
HP:0001635	Congestive heart failure	6711	SPTBN1	OMIM:619475
HP:0001635	Congestive heart failure	3032	HADHB	ORPHA:746
HP:0001635	Congestive heart failure	3030	HADHA	ORPHA:746
HP:0001635	Congestive heart failure	3030	HADHA	OMIM:609015
HP:0001635	Congestive heart failure	10128	LRPPRC	ORPHA:70472
HP:0001635	Congestive heart failure	284252	KCTD1	OMIM:181270
HP:0001635	Congestive heart failure	64131	XYLT1	OMIM:264800
HP:0001635	Congestive heart failure	64132	XYLT2	OMIM:264800
HP:0001635	Congestive heart failure	368	ABCC6	OMIM:264800
HP:0001635	Congestive heart failure	368	ABCC6	OMIM:614473
HP:0001635	Congestive heart failure	60528	ELAC2	OMIM:615440
HP:0001635	Congestive heart failure	2658	GDF2	ORPHA:774
HP:0001635	Congestive heart failure	94	ACVRL1	ORPHA:774
HP:0001635	Congestive heart failure	4089	SMAD4	ORPHA:774
HP:0001635	Congestive heart failure	2022	ENG	ORPHA:774
HP:0001635	Congestive heart failure	3920	LAMP2	OMIM:300257
HP:0001635	Congestive heart failure	7018	TF	OMIM:209300
HP:0001635	Congestive heart failure	26503	SLC17A5	OMIM:269920
HP:0001635	Congestive heart failure	57104	PNPLA2	ORPHA:98908
HP:0001635	Congestive heart failure	3593	IL12B	ORPHA:3287
HP:0001635	Congestive heart failure	3106	HLA-B	ORPHA:3287
HP:0001635	Congestive heart failure	6945	MLX	ORPHA:3287
HP:0001635	Congestive heart failure	10555	AGPAT2	ORPHA:528
HP:0001635	Congestive heart failure	284119	CAVIN1	ORPHA:528
HP:0001635	Congestive heart failure	26580	BSCL2	ORPHA:528
HP:0001635	Congestive heart failure	2353	FOS	ORPHA:528
HP:0001635	Congestive heart failure	857	CAV1	ORPHA:528
HP:0001635	Congestive heart failure	857	CAV1	ORPHA:220393
HP:0001635	Congestive heart failure	6223	RPS19	OMIM:105650
HP:0001635	Congestive heart failure	57538	ALPK3	OMIM:618052
HP:0001635	Congestive heart failure	115286	SLC25A26	OMIM:616794
HP:0001635	Congestive heart failure	523	ATP6V1A	OMIM:617403
HP:0001635	Congestive heart failure	203068	TUBB	ORPHA:2505
HP:0001635	Congestive heart failure	10982	MAPRE2	ORPHA:2505
HP:0001635	Congestive heart failure	1235	CCR6	ORPHA:220393
HP:0001635	Congestive heart failure	1490	CCN2	ORPHA:220393
HP:0001635	Congestive heart failure	3663	IRF5	ORPHA:220393
HP:0001635	Congestive heart failure	3123	HLA-DRB1	ORPHA:220393
HP:0001635	Congestive heart failure	5696	PSMB8	OMIM:256040
HP:0001635	Congestive heart failure	5728	PTEN	ORPHA:137608
HP:0001635	Congestive heart failure	6584	SLC22A5	OMIM:212140
HP:0001635	Congestive heart failure	3043	HBB	ORPHA:231222
HP:0001635	Congestive heart failure	3043	HBB	ORPHA:231226
HP:0001635	Congestive heart failure	3043	HBB	ORPHA:231214
HP:0001635	Congestive heart failure	779	CACNA1S	ORPHA:423
HP:0001635	Congestive heart failure	6261	RYR1	ORPHA:423
HP:0001635	Congestive heart failure	5250	SLC25A3	ORPHA:91130
HP:0001635	Congestive heart failure	2548	GAA	ORPHA:308552
HP:0001636	Tetralogy of Fallot	22827	PUF60	ORPHA:508498
HP:0001636	Tetralogy of Fallot	2294	FOXF1	OMIM:265380
HP:0001636	Tetralogy of Fallot	2294	FOXF1	ORPHA:210122
HP:0001636	Tetralogy of Fallot	6899	TBX1	ORPHA:3384
HP:0001636	Tetralogy of Fallot	6899	TBX1	ORPHA:3303
HP:0001636	Tetralogy of Fallot	6899	TBX1	ORPHA:567
HP:0001636	Tetralogy of Fallot	6899	TBX1	OMIM:188400
HP:0001636	Tetralogy of Fallot	6899	TBX1	ORPHA:1727
HP:0001636	Tetralogy of Fallot	6899	TBX1	OMIM:192430
HP:0001636	Tetralogy of Fallot	6899	TBX1	OMIM:187500
HP:0001636	Tetralogy of Fallot	137814	NKX2-6	ORPHA:3384
HP:0001636	Tetralogy of Fallot	137814	NKX2-6	ORPHA:3303
HP:0001636	Tetralogy of Fallot	23129	PLXND1	ORPHA:3384
HP:0001636	Tetralogy of Fallot	26235	FBXL4	OMIM:615471
HP:0001636	Tetralogy of Fallot	10262	SF3B4	OMIM:154400
HP:0001636	Tetralogy of Fallot	123606	NIPA1	ORPHA:261183
HP:0001636	Tetralogy of Fallot	7283	TUBG1	ORPHA:261183
HP:0001636	Tetralogy of Fallot	81614	NIPA2	ORPHA:261183
HP:0001636	Tetralogy of Fallot	1024	CDK8	OMIM:618748
HP:0001636	Tetralogy of Fallot	100151683	RNU4ATAC	OMIM:210710
HP:0001636	Tetralogy of Fallot	23556	PIGN	ORPHA:2059
HP:0001636	Tetralogy of Fallot	5885	RAD21	OMIM:614701
HP:0001636	Tetralogy of Fallot	7355	SLC35A2	ORPHA:356961
HP:0001636	Tetralogy of Fallot	22800	RRAS2	OMIM:618624
HP:0001636	Tetralogy of Fallot	2657	GDF1	OMIM:613854
HP:0001636	Tetralogy of Fallot	2657	GDF1	ORPHA:3303
HP:0001636	Tetralogy of Fallot	2657	GDF1	OMIM:208530
HP:0001636	Tetralogy of Fallot	79813	EHMT1	ORPHA:96147
HP:0001636	Tetralogy of Fallot	10992	SF3B2	OMIM:164210
HP:0001636	Tetralogy of Fallot	1482	NKX2-5	OMIM:108900
HP:0001636	Tetralogy of Fallot	1482	NKX2-5	ORPHA:3303
HP:0001636	Tetralogy of Fallot	1482	NKX2-5	OMIM:187500
HP:0001636	Tetralogy of Fallot	2626	GATA4	OMIM:614429
HP:0001636	Tetralogy of Fallot	2626	GATA4	ORPHA:3303
HP:0001636	Tetralogy of Fallot	2626	GATA4	ORPHA:251071
HP:0001636	Tetralogy of Fallot	2626	GATA4	OMIM:615542
HP:0001636	Tetralogy of Fallot	2626	GATA4	OMIM:187500
HP:0001636	Tetralogy of Fallot	1131	CHRM3	ORPHA:2970
HP:0001636	Tetralogy of Fallot	64220	STRA6	OMIM:601186
HP:0001636	Tetralogy of Fallot	2702	GJA5	ORPHA:3303
HP:0001636	Tetralogy of Fallot	23414	ZFPM2	ORPHA:3303
HP:0001636	Tetralogy of Fallot	23414	ZFPM2	OMIM:187500
HP:0001636	Tetralogy of Fallot	3791	KDR	ORPHA:3303
HP:0001636	Tetralogy of Fallot	2627	GATA6	ORPHA:3303
HP:0001636	Tetralogy of Fallot	2627	GATA6	OMIM:600001
HP:0001636	Tetralogy of Fallot	2627	GATA6	ORPHA:2255
HP:0001636	Tetralogy of Fallot	2627	GATA6	OMIM:187500
HP:0001636	Tetralogy of Fallot	182	JAG1	ORPHA:3303
HP:0001636	Tetralogy of Fallot	182	JAG1	OMIM:118450
HP:0001636	Tetralogy of Fallot	182	JAG1	OMIM:187500
HP:0001636	Tetralogy of Fallot	182	JAG1	OMIM:617992
HP:0001636	Tetralogy of Fallot	140628	GATA5	ORPHA:3303
HP:0001636	Tetralogy of Fallot	140628	GATA5	OMIM:617912
HP:0001636	Tetralogy of Fallot	2324	FLT4	ORPHA:3303
HP:0001636	Tetralogy of Fallot	2324	FLT4	OMIM:618780
HP:0001636	Tetralogy of Fallot	10370	CITED2	ORPHA:3303
HP:0001636	Tetralogy of Fallot	6299	SALL1	OMIM:107480
HP:0001636	Tetralogy of Fallot	6299	SALL1	ORPHA:857
HP:0001636	Tetralogy of Fallot	7490	WT1	ORPHA:3097
HP:0001636	Tetralogy of Fallot	7490	WT1	OMIM:608978
HP:0001636	Tetralogy of Fallot	8443	GNPAT	OMIM:222765
HP:0001636	Tetralogy of Fallot	1349	COX7B	OMIM:300887
HP:0001636	Tetralogy of Fallot	26275	HIBCH	ORPHA:88639
HP:0001636	Tetralogy of Fallot	26275	HIBCH	OMIM:250620
HP:0001636	Tetralogy of Fallot	29998	BICRA	OMIM:619325
HP:0001636	Tetralogy of Fallot	83479	DDX59	OMIM:174300
HP:0001636	Tetralogy of Fallot	83479	DDX59	ORPHA:2919
HP:0001636	Tetralogy of Fallot	10847	SRCAP	ORPHA:2044
HP:0001636	Tetralogy of Fallot	23384	SPECC1L	ORPHA:1519
HP:0001636	Tetralogy of Fallot	5053	PAH	ORPHA:2209
HP:0001636	Tetralogy of Fallot	55636	CHD7	ORPHA:138
HP:0001636	Tetralogy of Fallot	55636	CHD7	OMIM:214800
HP:0001636	Tetralogy of Fallot	9723	SEMA3E	ORPHA:138
HP:0001636	Tetralogy of Fallot	2260	FGFR1	ORPHA:280200
HP:0001636	Tetralogy of Fallot	28514	DLL1	ORPHA:280200
HP:0001636	Tetralogy of Fallot	2253	FGF8	ORPHA:280200
HP:0001636	Tetralogy of Fallot	6496	SIX3	ORPHA:280200
HP:0001636	Tetralogy of Fallot	7050	TGIF1	ORPHA:280200
HP:0001636	Tetralogy of Fallot	4838	NODAL	ORPHA:280200
HP:0001636	Tetralogy of Fallot	6469	SHH	ORPHA:280200
HP:0001636	Tetralogy of Fallot	51684	SUFU	ORPHA:280200
HP:0001636	Tetralogy of Fallot	7546	ZIC2	ORPHA:280200
HP:0001636	Tetralogy of Fallot	2619	GAS1	ORPHA:280200
HP:0001636	Tetralogy of Fallot	84976	DISP1	ORPHA:280200
HP:0001636	Tetralogy of Fallot	2736	GLI2	ORPHA:280200
HP:0001636	Tetralogy of Fallot	8928	FOXH1	ORPHA:280200
HP:0001636	Tetralogy of Fallot	6997	CRIPTO	ORPHA:280200
HP:0001636	Tetralogy of Fallot	5727	PTCH1	ORPHA:280200
HP:0001636	Tetralogy of Fallot	50937	CDON	ORPHA:280200
HP:0001636	Tetralogy of Fallot	57492	ARID1B	OMIM:135900
HP:0001636	Tetralogy of Fallot	57492	ARID1B	ORPHA:1465
HP:0001636	Tetralogy of Fallot	6597	SMARCA4	ORPHA:1465
HP:0001636	Tetralogy of Fallot	6598	SMARCB1	ORPHA:1465
HP:0001636	Tetralogy of Fallot	6659	SOX4	ORPHA:1465
HP:0001636	Tetralogy of Fallot	8289	ARID1A	ORPHA:1465
HP:0001636	Tetralogy of Fallot	5977	DPF2	ORPHA:1465
HP:0001636	Tetralogy of Fallot	6601	SMARCC2	ORPHA:1465
HP:0001636	Tetralogy of Fallot	6602	SMARCD1	ORPHA:1465
HP:0001636	Tetralogy of Fallot	196528	ARID2	ORPHA:1465
HP:0001636	Tetralogy of Fallot	6605	SMARCE1	ORPHA:1465
HP:0001636	Tetralogy of Fallot	6664	SOX11	ORPHA:1465
HP:0001636	Tetralogy of Fallot	1147	CHUK	OMIM:613630
HP:0001636	Tetralogy of Fallot	1108	CHD4	OMIM:617159
HP:0001636	Tetralogy of Fallot	7026	NR2F2	OMIM:615779
HP:0001636	Tetralogy of Fallot	64359	NXN	ORPHA:1507
HP:0001636	Tetralogy of Fallot	4920	ROR2	ORPHA:1507
HP:0001636	Tetralogy of Fallot	672	BRCA1	ORPHA:84
HP:0001636	Tetralogy of Fallot	10459	MAD2L2	ORPHA:84
HP:0001636	Tetralogy of Fallot	7516	XRCC2	ORPHA:84
HP:0001636	Tetralogy of Fallot	29089	UBE2T	ORPHA:84
HP:0001636	Tetralogy of Fallot	675	BRCA2	ORPHA:84
HP:0001636	Tetralogy of Fallot	55120	FANCL	ORPHA:84
HP:0001636	Tetralogy of Fallot	2177	FANCD2	ORPHA:84
HP:0001636	Tetralogy of Fallot	2175	FANCA	ORPHA:84
HP:0001636	Tetralogy of Fallot	2187	FANCB	ORPHA:84
HP:0001636	Tetralogy of Fallot	2176	FANCC	ORPHA:84
HP:0001636	Tetralogy of Fallot	2178	FANCE	ORPHA:84
HP:0001636	Tetralogy of Fallot	2188	FANCF	ORPHA:84
HP:0001636	Tetralogy of Fallot	2189	FANCG	ORPHA:84
HP:0001636	Tetralogy of Fallot	5888	RAD51	ORPHA:84
HP:0001636	Tetralogy of Fallot	5889	RAD51C	ORPHA:84
HP:0001636	Tetralogy of Fallot	55159	RFWD3	ORPHA:84
HP:0001636	Tetralogy of Fallot	83990	BRIP1	ORPHA:84
HP:0001636	Tetralogy of Fallot	57697	FANCM	ORPHA:84
HP:0001636	Tetralogy of Fallot	79728	PALB2	ORPHA:84
HP:0001636	Tetralogy of Fallot	84464	SLX4	ORPHA:84
HP:0001636	Tetralogy of Fallot	2072	ERCC4	ORPHA:84
HP:0001636	Tetralogy of Fallot	55215	FANCI	ORPHA:84
HP:0001636	Tetralogy of Fallot	1312	COMT	ORPHA:567
HP:0001636	Tetralogy of Fallot	221037	JMJD1C	ORPHA:567
HP:0001636	Tetralogy of Fallot	2812	GP1BB	ORPHA:567
HP:0001636	Tetralogy of Fallot	6239	RREB1	ORPHA:567
HP:0001636	Tetralogy of Fallot	7290	HIRA	ORPHA:567
HP:0001636	Tetralogy of Fallot	9632	SEC24C	ORPHA:567
HP:0001636	Tetralogy of Fallot	7353	UFD1	ORPHA:567
HP:0001636	Tetralogy of Fallot	421	ARVCF	ORPHA:567
HP:0001636	Tetralogy of Fallot	9839	ZEB2	ORPHA:261552
HP:0001636	Tetralogy of Fallot	9839	ZEB2	ORPHA:261537
HP:0001636	Tetralogy of Fallot	9896	FIG4	ORPHA:3472
HP:0001636	Tetralogy of Fallot	9896	FIG4	OMIM:216340
HP:0001636	Tetralogy of Fallot	55697	VAC14	ORPHA:3472
HP:0001636	Tetralogy of Fallot	7852	CXCR4	ORPHA:51636
HP:0001636	Tetralogy of Fallot	8550	MAPKAPK5	OMIM:619869
HP:0001636	Tetralogy of Fallot	57167	SALL4	ORPHA:959
HP:0001636	Tetralogy of Fallot	57167	SALL4	OMIM:147750
HP:0001636	Tetralogy of Fallot	9487	PIGL	ORPHA:3474
HP:0001636	Tetralogy of Fallot	9487	PIGL	OMIM:280000
HP:0001636	Tetralogy of Fallot	8241	RBM10	OMIM:311900
HP:0001636	Tetralogy of Fallot	8241	RBM10	ORPHA:2886
HP:0001636	Tetralogy of Fallot	23118	TAB2	OMIM:614980
HP:0001636	Tetralogy of Fallot	8092	ALX1	ORPHA:306542
HP:0001636	Tetralogy of Fallot	6135	RPL11	OMIM:612562
HP:0001636	Tetralogy of Fallot	6125	RPL5	OMIM:612561
HP:0001636	Tetralogy of Fallot	57514	ARHGAP31	OMIM:100300
HP:0001636	Tetralogy of Fallot	57514	ARHGAP31	ORPHA:974
HP:0001636	Tetralogy of Fallot	6804	STX1A	ORPHA:904
HP:0001636	Tetralogy of Fallot	7461	CLIP2	ORPHA:904
HP:0001636	Tetralogy of Fallot	84277	DNAJC30	ORPHA:904
HP:0001636	Tetralogy of Fallot	8468	FKBP6	ORPHA:904
HP:0001636	Tetralogy of Fallot	5982	RFC2	ORPHA:904
HP:0001636	Tetralogy of Fallot	2969	GTF2I	ORPHA:904
HP:0001636	Tetralogy of Fallot	3984	LIMK1	ORPHA:904
HP:0001636	Tetralogy of Fallot	9569	GTF2IRD1	ORPHA:904
HP:0001636	Tetralogy of Fallot	155382	VPS37D	ORPHA:904
HP:0001636	Tetralogy of Fallot	155368	METTL27	ORPHA:904
HP:0001636	Tetralogy of Fallot	114049	BUD23	ORPHA:904
HP:0001636	Tetralogy of Fallot	7458	EIF4H	ORPHA:904
HP:0001636	Tetralogy of Fallot	84163	GTF2IRD2	ORPHA:904
HP:0001636	Tetralogy of Fallot	26608	TBL2	ORPHA:904
HP:0001636	Tetralogy of Fallot	653361	NCF1	ORPHA:904
HP:0001636	Tetralogy of Fallot	135886	TMEM270	ORPHA:904
HP:0001636	Tetralogy of Fallot	9031	BAZ1B	ORPHA:904
HP:0001636	Tetralogy of Fallot	2006	ELN	ORPHA:904
HP:0001636	Tetralogy of Fallot	5590	PRKCZ	ORPHA:1606
HP:0001636	Tetralogy of Fallot	2563	GABRD	ORPHA:1606
HP:0001636	Tetralogy of Fallot	23013	SPEN	ORPHA:1606
HP:0001636	Tetralogy of Fallot	8510	MMP23B	ORPHA:1606
HP:0001636	Tetralogy of Fallot	7798	LUZP1	ORPHA:1606
HP:0001636	Tetralogy of Fallot	6497	SKI	ORPHA:1606
HP:0001636	Tetralogy of Fallot	10630	PDPN	ORPHA:1606
HP:0001636	Tetralogy of Fallot	3339	HSPG2	ORPHA:1606
HP:0001636	Tetralogy of Fallot	10277	UBE4B	ORPHA:1606
HP:0001636	Tetralogy of Fallot	8514	KCNAB2	ORPHA:1606
HP:0001636	Tetralogy of Fallot	473	RERE	ORPHA:1606
HP:0001636	Tetralogy of Fallot	63976	PRDM16	ORPHA:1606
HP:0001636	Tetralogy of Fallot	54897	CASZ1	ORPHA:1606
HP:0001636	Tetralogy of Fallot	51715	RAB23	OMIM:201000
HP:0001636	Tetralogy of Fallot	1654	DDX3X	ORPHA:3338
HP:0001636	Tetralogy of Fallot	3579	CXCR2	OMIM:619407
HP:0001636	Tetralogy of Fallot	2542	SLC37A4	OMIM:619525
HP:0001636	Tetralogy of Fallot	9772	TMEM94	OMIM:618316
HP:0001636	Tetralogy of Fallot	54487	DGCR8	OMIM:192430
HP:0001636	Tetralogy of Fallot	8214	DGCR6	OMIM:192430
HP:0001636	Tetralogy of Fallot	8220	ESS2	OMIM:192430
HP:0001636	Tetralogy of Fallot	9993	DGCR2	OMIM:192430
HP:0001636	Tetralogy of Fallot	51339	DACT1	ORPHA:857
HP:0001636	Tetralogy of Fallot	673	BRAF	OMIM:613707
HP:0001636	Tetralogy of Fallot	3516	RBPJ	ORPHA:974
HP:0001636	Tetralogy of Fallot	4851	NOTCH1	ORPHA:974
HP:0001636	Tetralogy of Fallot	4851	NOTCH1	OMIM:109730
HP:0001636	Tetralogy of Fallot	57572	DOCK6	ORPHA:974
HP:0001636	Tetralogy of Fallot	285203	EOGT	ORPHA:974
HP:0001636	Tetralogy of Fallot	54567	DLL4	ORPHA:974
HP:0001636	Tetralogy of Fallot	745	MYRF	OMIM:618280
HP:0001636	Tetralogy of Fallot	9897	WASHC5	OMIM:220210
HP:0001636	Tetralogy of Fallot	9897	WASHC5	ORPHA:7
HP:0001636	Tetralogy of Fallot	775	CACNA1C	OMIM:601005
HP:0001636	Tetralogy of Fallot	10084	PQBP1	OMIM:309500
HP:0001636	Tetralogy of Fallot	9652	SKIC3	OMIM:222470
HP:0001636	Tetralogy of Fallot	9652	SKIC3	ORPHA:84064
HP:0001636	Tetralogy of Fallot	1663	DDX11	OMIM:613398
HP:0001636	Tetralogy of Fallot	54916	TMEM260	OMIM:617478
HP:0001636	Tetralogy of Fallot	25836	NIPBL	OMIM:122470
HP:0001636	Tetralogy of Fallot	8195	MKKS	ORPHA:2473
HP:0001636	Tetralogy of Fallot	9939	RBM8A	ORPHA:3320
HP:0001636	Tetralogy of Fallot	9939	RBM8A	OMIM:274000
HP:0001636	Tetralogy of Fallot	4853	NOTCH2	OMIM:610205
HP:0001636	Tetralogy of Fallot	28952	CCDC22	ORPHA:7
HP:0001636	Tetralogy of Fallot	57020	VPS35L	ORPHA:7
HP:0001636	Tetralogy of Fallot	56896	DPYSL5	ORPHA:7
HP:0001636	Tetralogy of Fallot	257	ALX3	OMIM:136760
HP:0001636	Tetralogy of Fallot	2303	FOXC2	OMIM:153400
HP:0001636	Tetralogy of Fallot	6499	SKIC2	ORPHA:84064
HP:0001636	Tetralogy of Fallot	27152	INTU	OMIM:617925
HP:0001636	Tetralogy of Fallot	27152	INTU	OMIM:617926
HP:0001636	Tetralogy of Fallot	7319	UBE2A	ORPHA:163956
HP:0001636	Tetralogy of Fallot	8085	KMT2D	OMIM:147920
HP:0001636	Tetralogy of Fallot	7403	KDM6A	OMIM:147920
HP:0001636	Tetralogy of Fallot	6091	ROBO1	OMIM:620305
HP:0001637	Abnormal myocardium morphology	3106	HLA-B	ORPHA:36426
HP:0001637	Abnormal myocardium morphology	3106	HLA-B	ORPHA:117
HP:0001637	Abnormal myocardium morphology	10320	IKZF1	ORPHA:36426
HP:0001637	Abnormal myocardium morphology	2629	GBA1	ORPHA:77261
HP:0001637	Abnormal myocardium morphology	4000	LMNA	ORPHA:300751
HP:0001637	Abnormal myocardium morphology	81031	SLC2A10	ORPHA:3342
HP:0001637	Abnormal myocardium morphology	7132	TNFRSF1A	ORPHA:32960
HP:0001637	Abnormal myocardium morphology	2717	GLA	ORPHA:324
HP:0001637	Abnormal myocardium morphology	1376	CPT2	ORPHA:228308
HP:0001637	Abnormal myocardium morphology	149233	IL23R	ORPHA:117
HP:0001637	Abnormal myocardium morphology	6775	STAT4	ORPHA:117
HP:0001637	Abnormal myocardium morphology	3586	IL10	ORPHA:117
HP:0001637	Abnormal myocardium morphology	4210	MEFV	ORPHA:117
HP:0001637	Abnormal myocardium morphology	1230	CCR1	ORPHA:117
HP:0001637	Abnormal myocardium morphology	355	FAS	ORPHA:117
HP:0001637	Abnormal myocardium morphology	3592	IL12A	ORPHA:117
HP:0001637	Abnormal myocardium morphology	101928376	IL12A-AS1	ORPHA:117
HP:0001637	Abnormal myocardium morphology	7099	TLR4	ORPHA:117
HP:0001637	Abnormal myocardium morphology	3459	IFNGR1	ORPHA:117
HP:0001637	Abnormal myocardium morphology	720	C4A	ORPHA:117
HP:0001637	Abnormal myocardium morphology	337867	UBAC2	ORPHA:117
HP:0001637	Abnormal myocardium morphology	51752	ERAP1	ORPHA:117
HP:0001637	Abnormal myocardium morphology	8302	KLRC4	ORPHA:117
HP:0001637	Abnormal myocardium morphology	1832	DSP	ORPHA:158687
HP:0001637	Abnormal myocardium morphology	3728	JUP	ORPHA:158687
HP:0001637	Abnormal myocardium morphology	3728	JUP	ORPHA:34217
HP:0001637	Abnormal myocardium morphology	29925	GMPPB	OMIM:615352
HP:0001637	Abnormal myocardium morphology	29925	GMPPB	ORPHA:370959
HP:0001637	Abnormal myocardium morphology	29925	GMPPB	ORPHA:363623
HP:0001637	Abnormal myocardium morphology	80308	FLAD1	OMIM:255100
HP:0001637	Abnormal myocardium morphology	1161	ERCC8	ORPHA:90324
HP:0001637	Abnormal myocardium morphology	2074	ERCC6	ORPHA:90324
HP:0001637	Abnormal myocardium morphology	50484	RRM2B	ORPHA:329336
HP:0001637	Abnormal myocardium morphology	50484	RRM2B	ORPHA:480
HP:0001637	Abnormal myocardium morphology	246243	RNASEH1	ORPHA:329336
HP:0001637	Abnormal myocardium morphology	50717	DCAF8	OMIM:610100
HP:0001637	Abnormal myocardium morphology	1355	COX15	OMIM:615119
HP:0001637	Abnormal myocardium morphology	2997	GYS1	OMIM:611556
HP:0001637	Abnormal myocardium morphology	148738	HJV	OMIM:602390
HP:0001637	Abnormal myocardium morphology	4758	NEU1	OMIM:256550
HP:0001637	Abnormal myocardium morphology	58	ACTA1	ORPHA:171433
HP:0001637	Abnormal myocardium morphology	58	ACTA1	ORPHA:171439
HP:0001637	Abnormal myocardium morphology	4703	NEB	ORPHA:171433
HP:0001637	Abnormal myocardium morphology	4703	NEB	ORPHA:171439
HP:0001637	Abnormal myocardium morphology	4703	NEB	ORPHA:399103
HP:0001637	Abnormal myocardium morphology	10324	KLHL41	ORPHA:171433
HP:0001637	Abnormal myocardium morphology	10324	KLHL41	ORPHA:171439
HP:0001637	Abnormal myocardium morphology	7170	TPM3	ORPHA:171433
HP:0001637	Abnormal myocardium morphology	7170	TPM3	ORPHA:171439
HP:0001637	Abnormal myocardium morphology	7273	TTN	OMIM:608807
HP:0001637	Abnormal myocardium morphology	7273	TTN	ORPHA:609
HP:0001637	Abnormal myocardium morphology	7273	TTN	OMIM:600334
HP:0001637	Abnormal myocardium morphology	1352	COX10	OMIM:619046
HP:0001637	Abnormal myocardium morphology	25782	RAB3GAP2	OMIM:212720
HP:0001637	Abnormal myocardium morphology	30061	SLC40A1	OMIM:606069
HP:0001637	Abnormal myocardium morphology	3908	LAMA2	ORPHA:258
HP:0001637	Abnormal myocardium morphology	11155	LDB3	OMIM:609452
HP:0001637	Abnormal myocardium morphology	11155	LDB3	ORPHA:98912
HP:0001637	Abnormal myocardium morphology	6023	RMRP	ORPHA:175
HP:0001637	Abnormal myocardium morphology	1738	DLD	ORPHA:2394
HP:0001637	Abnormal myocardium morphology	284058	KANSL1	ORPHA:363958
HP:0001637	Abnormal myocardium morphology	284058	KANSL1	ORPHA:363965
HP:0001637	Abnormal myocardium morphology	191	AHCY	OMIM:613752
HP:0001637	Abnormal myocardium morphology	191	AHCY	ORPHA:88618
HP:0001637	Abnormal myocardium morphology	3423	IDS	ORPHA:217085
HP:0001637	Abnormal myocardium morphology	3423	IDS	ORPHA:217093
HP:0001637	Abnormal myocardium morphology	8878	SQSTM1	ORPHA:603
HP:0001637	Abnormal myocardium morphology	7072	TIA1	ORPHA:603
HP:0001637	Abnormal myocardium morphology	7555	CNBP	ORPHA:606
HP:0001637	Abnormal myocardium morphology	9499	MYOT	OMIM:609200
HP:0001637	Abnormal myocardium morphology	9499	MYOT	ORPHA:98911
HP:0001637	Abnormal myocardium morphology	10020	GNE	ORPHA:602
HP:0001637	Abnormal myocardium morphology	7276	TTR	OMIM:105210
HP:0001637	Abnormal myocardium morphology	7276	TTR	ORPHA:85447
HP:0001637	Abnormal myocardium morphology	10555	AGPAT2	OMIM:608594
HP:0001637	Abnormal myocardium morphology	5095	PCCA	OMIM:606054
HP:0001637	Abnormal myocardium morphology	5095	PCCA	ORPHA:35
HP:0001637	Abnormal myocardium morphology	5096	PCCB	OMIM:606054
HP:0001637	Abnormal myocardium morphology	5096	PCCB	ORPHA:35
HP:0001637	Abnormal myocardium morphology	10367	MICU1	ORPHA:401768
HP:0001637	Abnormal myocardium morphology	7466	WFS1	OMIM:222300
HP:0001637	Abnormal myocardium morphology	7466	WFS1	ORPHA:3463
HP:0001637	Abnormal myocardium morphology	9896	FIG4	ORPHA:3472
HP:0001637	Abnormal myocardium morphology	9896	FIG4	OMIM:216340
HP:0001637	Abnormal myocardium morphology	55697	VAC14	ORPHA:3472
HP:0001637	Abnormal myocardium morphology	2992	GYG1	ORPHA:263297
HP:0001637	Abnormal myocardium morphology	10352	WARS2	ORPHA:572798
HP:0001637	Abnormal myocardium morphology	10352	WARS2	OMIM:617710
HP:0001637	Abnormal myocardium morphology	79158	GNPTAB	OMIM:252600
HP:0001637	Abnormal myocardium morphology	79158	GNPTAB	ORPHA:576
HP:0001637	Abnormal myocardium morphology	3425	IDUA	OMIM:607014
HP:0001637	Abnormal myocardium morphology	3425	IDUA	ORPHA:93473
HP:0001637	Abnormal myocardium morphology	3425	IDUA	ORPHA:93476
HP:0001637	Abnormal myocardium morphology	2395	FXN	ORPHA:95
HP:0001637	Abnormal myocardium morphology	788	SLC25A20	ORPHA:159
HP:0001637	Abnormal myocardium morphology	788	SLC25A20	OMIM:212138
HP:0001637	Abnormal myocardium morphology	5373	PMM2	OMIM:212065
HP:0001637	Abnormal myocardium morphology	10585	POMT1	OMIM:609308
HP:0001637	Abnormal myocardium morphology	10585	POMT1	ORPHA:370959
HP:0001637	Abnormal myocardium morphology	10585	POMT1	ORPHA:86812
HP:0001637	Abnormal myocardium morphology	10585	POMT1	OMIM:613155
HP:0001637	Abnormal myocardium morphology	92482	BBIP1	ORPHA:110
HP:0001637	Abnormal myocardium morphology	80184	CEP290	ORPHA:110
HP:0001637	Abnormal myocardium morphology	11020	IFT27	ORPHA:110
HP:0001637	Abnormal myocardium morphology	582	BBS1	ORPHA:110
HP:0001637	Abnormal myocardium morphology	49855	SCAPER	ORPHA:110
HP:0001637	Abnormal myocardium morphology	4867	NPHP1	ORPHA:110
HP:0001637	Abnormal myocardium morphology	51057	WDPCP	ORPHA:110
HP:0001637	Abnormal myocardium morphology	132320	SCLT1	ORPHA:110
HP:0001637	Abnormal myocardium morphology	27241	BBS9	ORPHA:110
HP:0001637	Abnormal myocardium morphology	84984	CEP19	ORPHA:110
HP:0001637	Abnormal myocardium morphology	22954	TRIM32	ORPHA:110
HP:0001637	Abnormal myocardium morphology	54903	MKS1	ORPHA:110
HP:0001637	Abnormal myocardium morphology	79738	BBS10	ORPHA:110
HP:0001637	Abnormal myocardium morphology	123016	TTC8	ORPHA:110
HP:0001637	Abnormal myocardium morphology	26160	IFT172	ORPHA:110
HP:0001637	Abnormal myocardium morphology	583	BBS2	ORPHA:110
HP:0001637	Abnormal myocardium morphology	585	BBS4	ORPHA:110
HP:0001637	Abnormal myocardium morphology	8195	MKKS	ORPHA:110
HP:0001637	Abnormal myocardium morphology	54585	LZTFL1	ORPHA:110
HP:0001637	Abnormal myocardium morphology	55212	BBS7	ORPHA:110
HP:0001637	Abnormal myocardium morphology	166379	BBS12	ORPHA:110
HP:0001637	Abnormal myocardium morphology	10806	SDCCAG8	ORPHA:110
HP:0001637	Abnormal myocardium morphology	157657	CFAP418	ORPHA:110
HP:0001637	Abnormal myocardium morphology	84100	ARL6	ORPHA:110
HP:0001637	Abnormal myocardium morphology	129880	BBS5	ORPHA:110
HP:0001637	Abnormal myocardium morphology	80173	IFT74	ORPHA:110
HP:0001637	Abnormal myocardium morphology	51594	NBAS	OMIM:616483
HP:0001637	Abnormal myocardium morphology	1594	CYP27B1	ORPHA:289157
HP:0001637	Abnormal myocardium morphology	120227	CYP2R1	ORPHA:289157
HP:0001637	Abnormal myocardium morphology	2318	FLNC	OMIM:614065
HP:0001637	Abnormal myocardium morphology	2318	FLNC	ORPHA:171445
HP:0001637	Abnormal myocardium morphology	2318	FLNC	ORPHA:63273
HP:0001637	Abnormal myocardium morphology	84665	MYPN	OMIM:617336
HP:0001637	Abnormal myocardium morphology	84665	MYPN	ORPHA:171439
HP:0001637	Abnormal myocardium morphology	8239	USP9X	ORPHA:480880
HP:0001637	Abnormal myocardium morphology	7058	THBS2	OMIM:620865
HP:0001637	Abnormal myocardium morphology	3418	IDH2	OMIM:613657
HP:0001637	Abnormal myocardium morphology	773	CACNA1A	ORPHA:2131
HP:0001637	Abnormal myocardium morphology	6507	SLC1A3	ORPHA:2131
HP:0001637	Abnormal myocardium morphology	477	ATP1A2	ORPHA:2131
HP:0001637	Abnormal myocardium morphology	478	ATP1A3	ORPHA:2131
HP:0001637	Abnormal myocardium morphology	493856	CISD2	ORPHA:3463
HP:0001637	Abnormal myocardium morphology	9049	AIP	OMIM:102200
HP:0001637	Abnormal myocardium morphology	56052	ALG1	ORPHA:79327
HP:0001637	Abnormal myocardium morphology	56052	ALG1	OMIM:608540
HP:0001637	Abnormal myocardium morphology	728294	D2HGDH	OMIM:600721
HP:0001637	Abnormal myocardium morphology	2934	GSN	ORPHA:85448
HP:0001637	Abnormal myocardium morphology	2934	GSN	OMIM:105120
HP:0001637	Abnormal myocardium morphology	1654	DDX3X	ORPHA:3338
HP:0001637	Abnormal myocardium morphology	111	ADCY5	OMIM:619647
HP:0001637	Abnormal myocardium morphology	111	ADCY5	OMIM:619651
HP:0001637	Abnormal myocardium morphology	25973	PARS2	OMIM:618437
HP:0001637	Abnormal myocardium morphology	5191	PEX7	OMIM:614879
HP:0001637	Abnormal myocardium morphology	5191	PEX7	OMIM:266500
HP:0001637	Abnormal myocardium morphology	5191	PEX7	ORPHA:773
HP:0001637	Abnormal myocardium morphology	3178	HNRNPA1	ORPHA:52430
HP:0001637	Abnormal myocardium morphology	7415	VCP	ORPHA:52430
HP:0001637	Abnormal myocardium morphology	7415	VCP	ORPHA:329478
HP:0001637	Abnormal myocardium morphology	3181	HNRNPA2B1	ORPHA:52430
HP:0001637	Abnormal myocardium morphology	57104	PNPLA2	OMIM:610717
HP:0001637	Abnormal myocardium morphology	57104	PNPLA2	ORPHA:565612
HP:0001637	Abnormal myocardium morphology	57104	PNPLA2	ORPHA:98908
HP:0001637	Abnormal myocardium morphology	57724	EPG5	OMIM:242840
HP:0001637	Abnormal myocardium morphology	57724	EPG5	ORPHA:1493
HP:0001637	Abnormal myocardium morphology	2239	GPC4	ORPHA:373
HP:0001637	Abnormal myocardium morphology	2239	GPC4	OMIM:312870
HP:0001637	Abnormal myocardium morphology	2719	GPC3	ORPHA:373
HP:0001637	Abnormal myocardium morphology	2719	GPC3	OMIM:312870
HP:0001637	Abnormal myocardium morphology	1028	CDKN1C	OMIM:130650
HP:0001637	Abnormal myocardium morphology	3481	IGF2	OMIM:130650
HP:0001637	Abnormal myocardium morphology	3784	KCNQ1	OMIM:130650
HP:0001637	Abnormal myocardium morphology	10984	KCNQ1OT1	OMIM:130650
HP:0001637	Abnormal myocardium morphology	654	BMP6	ORPHA:465508
HP:0001637	Abnormal myocardium morphology	3077	HFE	ORPHA:465508
HP:0001637	Abnormal myocardium morphology	3077	HFE	OMIM:235200
HP:0001637	Abnormal myocardium morphology	7169	TPM2	ORPHA:171439
HP:0001637	Abnormal myocardium morphology	390594	KBTBD13	ORPHA:171439
HP:0001637	Abnormal myocardium morphology	57817	HAMP	OMIM:613313
HP:0001637	Abnormal myocardium morphology	404672	GTF2H5	ORPHA:33364
HP:0001637	Abnormal myocardium morphology	833	CARS1	ORPHA:33364
HP:0001637	Abnormal myocardium morphology	2068	ERCC2	ORPHA:33364
HP:0001637	Abnormal myocardium morphology	7737	RNF113A	ORPHA:33364
HP:0001637	Abnormal myocardium morphology	136647	MPLKIP	ORPHA:33364
HP:0001637	Abnormal myocardium morphology	6897	TARS1	ORPHA:33364
HP:0001637	Abnormal myocardium morphology	16	AARS1	ORPHA:33364
HP:0001637	Abnormal myocardium morphology	2071	ERCC3	ORPHA:33364
HP:0001637	Abnormal myocardium morphology	2961	GTF2E2	ORPHA:33364
HP:0001637	Abnormal myocardium morphology	3954	LETM1	OMIM:620089
HP:0001637	Abnormal myocardium morphology	10195	ALG3	ORPHA:79321
HP:0001637	Abnormal myocardium morphology	23676	SMPX	OMIM:301075
HP:0001637	Abnormal myocardium morphology	11277	TREX1	ORPHA:247691
HP:0001637	Abnormal myocardium morphology	11277	TREX1	OMIM:225750
HP:0001637	Abnormal myocardium morphology	4509	MT-ATP8	ORPHA:480
HP:0001637	Abnormal myocardium morphology	4567	MT-TL1	ORPHA:480
HP:0001637	Abnormal myocardium morphology	4567	MT-TL1	ORPHA:550
HP:0001637	Abnormal myocardium morphology	4567	MT-TL1	ORPHA:324525
HP:0001637	Abnormal myocardium morphology	5256	PHKA2	ORPHA:264580
HP:0001637	Abnormal myocardium morphology	5261	PHKG2	ORPHA:264580
HP:0001637	Abnormal myocardium morphology	335	APOA1	OMIM:620657
HP:0001637	Abnormal myocardium morphology	4878	NPPA	OMIM:615745
HP:0001637	Abnormal myocardium morphology	4878	NPPA	ORPHA:1344
HP:0001637	Abnormal myocardium morphology	8216	LZTR1	OMIM:605275
HP:0001637	Abnormal myocardium morphology	6443	SGCB	ORPHA:119
HP:0001637	Abnormal myocardium morphology	4594	MMUT	ORPHA:79312
HP:0001637	Abnormal myocardium morphology	4594	MMUT	OMIM:251000
HP:0001637	Abnormal myocardium morphology	4558	MT-TF	ORPHA:550
HP:0001637	Abnormal myocardium morphology	4572	MT-TQ	ORPHA:550
HP:0001637	Abnormal myocardium morphology	4512	MT-CO1	ORPHA:550
HP:0001637	Abnormal myocardium morphology	4513	MT-CO2	ORPHA:550
HP:0001637	Abnormal myocardium morphology	4514	MT-CO3	ORPHA:550
HP:0001637	Abnormal myocardium morphology	4578	MT-TW	ORPHA:550
HP:0001637	Abnormal myocardium morphology	4540	MT-ND5	ORPHA:550
HP:0001637	Abnormal myocardium morphology	4541	MT-ND6	ORPHA:550
HP:0001637	Abnormal myocardium morphology	4535	MT-ND1	ORPHA:550
HP:0001637	Abnormal myocardium morphology	4538	MT-ND4	ORPHA:550
HP:0001637	Abnormal myocardium morphology	4574	MT-TS1	ORPHA:550
HP:0001637	Abnormal myocardium morphology	4575	MT-TS2	ORPHA:550
HP:0001637	Abnormal myocardium morphology	4564	MT-TH	ORPHA:550
HP:0001637	Abnormal myocardium morphology	51422	PRKAG2	OMIM:261740
HP:0001637	Abnormal myocardium morphology	2632	GBE1	OMIM:232500
HP:0001637	Abnormal myocardium morphology	1410	CRYAB	ORPHA:399058
HP:0001637	Abnormal myocardium morphology	4508	MT-ATP6	ORPHA:320360
HP:0001637	Abnormal myocardium morphology	1756	DMD	OMIM:310200
HP:0001637	Abnormal myocardium morphology	1756	DMD	ORPHA:98896
HP:0001637	Abnormal myocardium morphology	1756	DMD	OMIM:300376
HP:0001637	Abnormal myocardium morphology	5428	POLG	OMIM:258450
HP:0001637	Abnormal myocardium morphology	5428	POLG	ORPHA:254886
HP:0001637	Abnormal myocardium morphology	81570	CLPB	ORPHA:445038
HP:0001637	Abnormal myocardium morphology	411	ARSB	OMIM:253200
HP:0001637	Abnormal myocardium morphology	6442	SGCA	OMIM:608099
HP:0001637	Abnormal myocardium morphology	7084	TK2	ORPHA:254886
HP:0001637	Abnormal myocardium morphology	3714	JAG2	OMIM:619566
HP:0001637	Abnormal myocardium morphology	5264	PHYH	OMIM:266500
HP:0001637	Abnormal myocardium morphology	5264	PHYH	ORPHA:773
HP:0001637	Abnormal myocardium morphology	10073	SNUPN	OMIM:620793
HP:0001637	Abnormal myocardium morphology	2720	GLB1	ORPHA:79255
HP:0001637	Abnormal myocardium morphology	3756	KCNH1	OMIM:135500
HP:0001637	Abnormal myocardium morphology	10560	SLC19A2	OMIM:249270
HP:0001637	Abnormal myocardium morphology	6331	SCN5A	ORPHA:1344
HP:0001637	Abnormal myocardium morphology	10616	RBCK1	OMIM:615895
HP:0001637	Abnormal myocardium morphology	708	C1QBP	OMIM:617713
HP:0001637	Abnormal myocardium morphology	9325	TRIP4	OMIM:616866
HP:0001637	Abnormal myocardium morphology	56652	TWNK	OMIM:609286
HP:0001637	Abnormal myocardium morphology	2771	GNAI2	OMIM:192605
HP:0001637	Abnormal myocardium morphology	8425	LTBP4	ORPHA:98896
HP:0001637	Abnormal myocardium morphology	650	BMP2	OMIM:235200
HP:0001637	Abnormal myocardium morphology	4976	OPA1	ORPHA:1215
HP:0001637	Abnormal myocardium morphology	6197	RPS6KA3	ORPHA:192
HP:0001637	Abnormal myocardium morphology	51095	TRNT1	OMIM:616084
HP:0001637	Abnormal myocardium morphology	4576	MT-TT	ORPHA:254857
HP:0001637	Abnormal myocardium morphology	35	ACADS	OMIM:201470
HP:0001637	Abnormal myocardium morphology	35	ACADS	ORPHA:26792
HP:0001637	Abnormal myocardium morphology	3257	HPS1	OMIM:203300
HP:0001637	Abnormal myocardium morphology	3704	ITPA	OMIM:616647
HP:0001637	Abnormal myocardium morphology	3032	HADHB	ORPHA:746
HP:0001637	Abnormal myocardium morphology	3030	HADHA	ORPHA:746
HP:0001637	Abnormal myocardium morphology	3030	HADHA	OMIM:609016
HP:0001637	Abnormal myocardium morphology	7036	TFR2	OMIM:604250
HP:0001637	Abnormal myocardium morphology	79147	FKRP	ORPHA:370959
HP:0001637	Abnormal myocardium morphology	29954	POMT2	ORPHA:370959
HP:0001637	Abnormal myocardium morphology	84197	POMK	ORPHA:370959
HP:0001637	Abnormal myocardium morphology	55624	POMGNT1	ORPHA:370959
HP:0001637	Abnormal myocardium morphology	4716	NDUFB10	OMIM:619003
HP:0001637	Abnormal myocardium morphology	7504	XK	OMIM:300842
HP:0001637	Abnormal myocardium morphology	283459	GATC	OMIM:618839
HP:0001637	Abnormal myocardium morphology	2273	FHL1	OMIM:300280
HP:0001637	Abnormal myocardium morphology	55670	PEX26	ORPHA:772
HP:0001637	Abnormal myocardium morphology	5824	PEX19	ORPHA:772
HP:0001637	Abnormal myocardium morphology	5828	PEX2	ORPHA:772
HP:0001637	Abnormal myocardium morphology	8504	PEX3	ORPHA:772
HP:0001637	Abnormal myocardium morphology	9409	PEX16	ORPHA:772
HP:0001637	Abnormal myocardium morphology	5190	PEX6	ORPHA:772
HP:0001637	Abnormal myocardium morphology	8799	PEX11B	ORPHA:772
HP:0001637	Abnormal myocardium morphology	5830	PEX5	ORPHA:772
HP:0001637	Abnormal myocardium morphology	5189	PEX1	ORPHA:772
HP:0001637	Abnormal myocardium morphology	5193	PEX12	ORPHA:772
HP:0001637	Abnormal myocardium morphology	5194	PEX13	ORPHA:772
HP:0001637	Abnormal myocardium morphology	5195	PEX14	ORPHA:772
HP:0001637	Abnormal myocardium morphology	5192	PEX10	ORPHA:772
HP:0001637	Abnormal myocardium morphology	7428	VHL	ORPHA:892
HP:0001637	Abnormal myocardium morphology	595	CCND1	ORPHA:892
HP:0001637	Abnormal myocardium morphology	6389	SDHA	OMIM:619259
HP:0001637	Abnormal myocardium morphology	178	AGL	OMIM:232400
HP:0001637	Abnormal myocardium morphology	51099	ABHD5	ORPHA:98907
HP:0001637	Abnormal myocardium morphology	2990	GUSB	OMIM:253220
HP:0001637	Abnormal myocardium morphology	84700	MYO18B	OMIM:616549
HP:0001637	Abnormal myocardium morphology	55005	RMND1	OMIM:614922
HP:0001637	Abnormal myocardium morphology	9997	SCO2	ORPHA:521411
HP:0001637	Abnormal myocardium morphology	3643	INSR	ORPHA:769
HP:0001637	Abnormal myocardium morphology	23224	SYNE2	OMIM:612999
HP:0001637	Abnormal myocardium morphology	203859	ANO5	ORPHA:206549
HP:0001637	Abnormal myocardium morphology	6584	SLC22A5	OMIM:212140
HP:0001637	Abnormal myocardium morphology	1374	CPT1A	ORPHA:156
HP:0001637	Abnormal myocardium morphology	8243	SMC1A	OMIM:300590
HP:0001637	Abnormal myocardium morphology	10128	LRPPRC	OMIM:220111
HP:0001637	Abnormal myocardium morphology	10128	LRPPRC	ORPHA:70472
HP:0001637	Abnormal myocardium morphology	8036	SHOC2	OMIM:607721
HP:0001637	Abnormal myocardium morphology	8036	SHOC2	ORPHA:2701
HP:0001637	Abnormal myocardium morphology	54539	NDUFB11	ORPHA:2609
HP:0001637	Abnormal myocardium morphology	54539	NDUFB11	ORPHA:2556
HP:0001637	Abnormal myocardium morphology	25915	NDUFAF3	ORPHA:2609
HP:0001637	Abnormal myocardium morphology	51103	NDUFAF1	ORPHA:2609
HP:0001637	Abnormal myocardium morphology	51103	NDUFAF1	OMIM:618234
HP:0001637	Abnormal myocardium morphology	91942	NDUFAF2	ORPHA:2609
HP:0001637	Abnormal myocardium morphology	51300	TIMMDC1	ORPHA:2609
HP:0001637	Abnormal myocardium morphology	4723	NDUFV1	ORPHA:2609
HP:0001637	Abnormal myocardium morphology	55572	FOXRED1	ORPHA:2609
HP:0001637	Abnormal myocardium morphology	55572	FOXRED1	OMIM:618241
HP:0001637	Abnormal myocardium morphology	284184	NDUFAF8	ORPHA:2609
HP:0001637	Abnormal myocardium morphology	55863	TMEM126B	ORPHA:2609
HP:0001637	Abnormal myocardium morphology	55863	TMEM126B	OMIM:618250
HP:0001637	Abnormal myocardium morphology	4537	MT-ND3	ORPHA:2609
HP:0001637	Abnormal myocardium morphology	4537	MT-ND3	ORPHA:255210
HP:0001637	Abnormal myocardium morphology	4729	NDUFV2	ORPHA:2609
HP:0001637	Abnormal myocardium morphology	4729	NDUFV2	OMIM:618229
HP:0001637	Abnormal myocardium morphology	4694	NDUFA1	ORPHA:2609
HP:0001637	Abnormal myocardium morphology	4720	NDUFS2	ORPHA:2609
HP:0001637	Abnormal myocardium morphology	4720	NDUFS2	OMIM:618228
HP:0001637	Abnormal myocardium morphology	4724	NDUFS4	ORPHA:2609
HP:0001637	Abnormal myocardium morphology	4724	NDUFS4	OMIM:252010
HP:0001637	Abnormal myocardium morphology	4726	NDUFS6	ORPHA:2609
HP:0001637	Abnormal myocardium morphology	4728	NDUFS8	ORPHA:2609
HP:0001637	Abnormal myocardium morphology	4728	NDUFS8	OMIM:618222
HP:0001637	Abnormal myocardium morphology	4722	NDUFS3	ORPHA:2609
HP:0001637	Abnormal myocardium morphology	79133	NDUFAF5	ORPHA:2609
HP:0001637	Abnormal myocardium morphology	126328	NDUFA11	ORPHA:2609
HP:0001637	Abnormal myocardium morphology	126328	NDUFA11	OMIM:618236
HP:0001637	Abnormal myocardium morphology	4709	NDUFB3	ORPHA:2609
HP:0001637	Abnormal myocardium morphology	80224	NUBPL	ORPHA:2609
HP:0001637	Abnormal myocardium morphology	29078	NDUFAF4	ORPHA:2609
HP:0001637	Abnormal myocardium morphology	29078	NDUFAF4	OMIM:618237
HP:0001637	Abnormal myocardium morphology	374291	NDUFS7	ORPHA:2609
HP:0001637	Abnormal myocardium morphology	4700	NDUFA6	ORPHA:2609
HP:0001637	Abnormal myocardium morphology	4536	MT-ND2	ORPHA:2609
HP:0001637	Abnormal myocardium morphology	4536	MT-ND2	ORPHA:255210
HP:0001637	Abnormal myocardium morphology	4719	NDUFS1	ORPHA:2609
HP:0001637	Abnormal myocardium morphology	4715	NDUFB9	ORPHA:2609
HP:0001637	Abnormal myocardium morphology	26235	FBXL4	OMIM:615471
HP:0001637	Abnormal myocardium morphology	4570	MT-TN	OMIM:220110
HP:0001637	Abnormal myocardium morphology	6834	SURF1	OMIM:220110
HP:0001637	Abnormal myocardium morphology	55532	SLC30A10	ORPHA:309854
HP:0001637	Abnormal myocardium morphology	6016	RIT1	OMIM:615355
HP:0001637	Abnormal myocardium morphology	6016	RIT1	ORPHA:648
HP:0001637	Abnormal myocardium morphology	5894	RAF1	OMIM:611554
HP:0001637	Abnormal myocardium morphology	5894	RAF1	OMIM:611553
HP:0001637	Abnormal myocardium morphology	5894	RAF1	ORPHA:500
HP:0001637	Abnormal myocardium morphology	5894	RAF1	ORPHA:648
HP:0001637	Abnormal myocardium morphology	673	BRAF	OMIM:115150
HP:0001637	Abnormal myocardium morphology	673	BRAF	ORPHA:1340
HP:0001637	Abnormal myocardium morphology	673	BRAF	ORPHA:500
HP:0001637	Abnormal myocardium morphology	673	BRAF	OMIM:613706
HP:0001637	Abnormal myocardium morphology	673	BRAF	OMIM:163950
HP:0001637	Abnormal myocardium morphology	25821	MTO1	OMIM:614702
HP:0001637	Abnormal myocardium morphology	84334	COA8	ORPHA:436271
HP:0001637	Abnormal myocardium morphology	57176	VARS2	OMIM:615917
HP:0001637	Abnormal myocardium morphology	9690	UBE3C	OMIM:620270
HP:0001637	Abnormal myocardium morphology	4577	MT-TV	ORPHA:255210
HP:0001637	Abnormal myocardium morphology	4566	MT-TK	ORPHA:255210
HP:0001637	Abnormal myocardium morphology	4566	MT-TK	ORPHA:1349
HP:0001637	Abnormal myocardium morphology	54968	TMEM70	ORPHA:1194
HP:0001637	Abnormal myocardium morphology	54968	TMEM70	OMIM:614052
HP:0001637	Abnormal myocardium morphology	65082	VPS33A	OMIM:617303
HP:0001637	Abnormal myocardium morphology	65082	VPS33A	ORPHA:505248
HP:0001637	Abnormal myocardium morphology	3764	KCNJ8	ORPHA:1517
HP:0001637	Abnormal myocardium morphology	10060	ABCC9	ORPHA:1517
HP:0001637	Abnormal myocardium morphology	1340	COX6B1	OMIM:619051
HP:0001637	Abnormal myocardium morphology	84987	COX14	OMIM:619053
HP:0001637	Abnormal myocardium morphology	514	ATP5F1E	ORPHA:254913
HP:0001637	Abnormal myocardium morphology	514	ATP5F1E	OMIM:614053
HP:0001637	Abnormal myocardium morphology	513	ATP5F1D	ORPHA:254913
HP:0001637	Abnormal myocardium morphology	498	ATP5F1A	ORPHA:254913
HP:0001637	Abnormal myocardium morphology	84833	ATP5MK	ORPHA:254913
HP:0001637	Abnormal myocardium morphology	84833	ATP5MK	OMIM:618683
HP:0001637	Abnormal myocardium morphology	91647	ATPAF2	ORPHA:254913
HP:0001637	Abnormal myocardium morphology	1757	SARDH	ORPHA:3129
HP:0001637	Abnormal myocardium morphology	5468	PPARG	ORPHA:79083
HP:0001637	Abnormal myocardium morphology	5468	PPARG	ORPHA:528
HP:0001637	Abnormal myocardium morphology	5350	PLN	OMIM:613874
HP:0001637	Abnormal myocardium morphology	91624	NEXN	OMIM:613876
HP:0001637	Abnormal myocardium morphology	4625	MYH7	OMIM:608358
HP:0001637	Abnormal myocardium morphology	4625	MYH7	OMIM:255160
HP:0001637	Abnormal myocardium morphology	29967	LRP12	OMIM:164310
HP:0001637	Abnormal myocardium morphology	672	BRCA1	ORPHA:84
HP:0001637	Abnormal myocardium morphology	10459	MAD2L2	ORPHA:84
HP:0001637	Abnormal myocardium morphology	7516	XRCC2	ORPHA:84
HP:0001637	Abnormal myocardium morphology	29089	UBE2T	ORPHA:84
HP:0001637	Abnormal myocardium morphology	675	BRCA2	ORPHA:84
HP:0001637	Abnormal myocardium morphology	55120	FANCL	ORPHA:84
HP:0001637	Abnormal myocardium morphology	2177	FANCD2	ORPHA:84
HP:0001637	Abnormal myocardium morphology	2175	FANCA	ORPHA:84
HP:0001637	Abnormal myocardium morphology	2187	FANCB	ORPHA:84
HP:0001637	Abnormal myocardium morphology	2176	FANCC	ORPHA:84
HP:0001637	Abnormal myocardium morphology	2178	FANCE	ORPHA:84
HP:0001637	Abnormal myocardium morphology	2188	FANCF	ORPHA:84
HP:0001637	Abnormal myocardium morphology	2189	FANCG	ORPHA:84
HP:0001637	Abnormal myocardium morphology	5888	RAD51	ORPHA:84
HP:0001637	Abnormal myocardium morphology	5889	RAD51C	ORPHA:84
HP:0001637	Abnormal myocardium morphology	55159	RFWD3	ORPHA:84
HP:0001637	Abnormal myocardium morphology	83990	BRIP1	ORPHA:84
HP:0001637	Abnormal myocardium morphology	57697	FANCM	ORPHA:84
HP:0001637	Abnormal myocardium morphology	79728	PALB2	ORPHA:84
HP:0001637	Abnormal myocardium morphology	84464	SLX4	ORPHA:84
HP:0001637	Abnormal myocardium morphology	2072	ERCC4	ORPHA:84
HP:0001637	Abnormal myocardium morphology	55215	FANCI	ORPHA:84
HP:0001637	Abnormal myocardium morphology	54675	CRLS1	OMIM:620167
HP:0001637	Abnormal myocardium morphology	83550	GPR101	ORPHA:963
HP:0001637	Abnormal myocardium morphology	2626	GATA4	ORPHA:251071
HP:0001637	Abnormal myocardium morphology	1717	DHCR7	OMIM:270400
HP:0001637	Abnormal myocardium morphology	7274	TTPA	ORPHA:96
HP:0001637	Abnormal myocardium morphology	203286	ANKS6	OMIM:615382
HP:0001637	Abnormal myocardium morphology	4763	NF1	ORPHA:363700
HP:0001637	Abnormal myocardium morphology	4763	NF1	OMIM:162200
HP:0001637	Abnormal myocardium morphology	4763	NF1	ORPHA:97685
HP:0001637	Abnormal myocardium morphology	4763	NF1	ORPHA:638
HP:0001637	Abnormal myocardium morphology	7386	UQCRFS1	OMIM:618775
HP:0001637	Abnormal myocardium morphology	5500	PPP1CB	ORPHA:2701
HP:0001637	Abnormal myocardium morphology	5500	PPP1CB	OMIM:617506
HP:0001637	Abnormal myocardium morphology	388962	BOLA3	OMIM:614299
HP:0001637	Abnormal myocardium morphology	200734	SPRED2	OMIM:619745
HP:0001637	Abnormal myocardium morphology	200734	SPRED2	ORPHA:648
HP:0001637	Abnormal myocardium morphology	28976	ACAD9	ORPHA:99901
HP:0001637	Abnormal myocardium morphology	28976	ACAD9	OMIM:611126
HP:0001637	Abnormal myocardium morphology	3265	HRAS	OMIM:218040
HP:0001637	Abnormal myocardium morphology	3265	HRAS	ORPHA:3071
HP:0001637	Abnormal myocardium morphology	7168	TPM1	OMIM:115196
HP:0001637	Abnormal myocardium morphology	65080	MRPL44	OMIM:615395
HP:0001637	Abnormal myocardium morphology	3028	HSD17B10	OMIM:300438
HP:0001637	Abnormal myocardium morphology	3028	HSD17B10	ORPHA:391457
HP:0001637	Abnormal myocardium morphology	3028	HSD17B10	ORPHA:391428
HP:0001637	Abnormal myocardium morphology	5604	MAP2K1	OMIM:615279
HP:0001637	Abnormal myocardium morphology	5604	MAP2K1	ORPHA:1340
HP:0001637	Abnormal myocardium morphology	5604	MAP2K1	OMIM:163950
HP:0001637	Abnormal myocardium morphology	7139	TNNT2	OMIM:115195
HP:0001637	Abnormal myocardium morphology	7139	TNNT2	ORPHA:75249
HP:0001637	Abnormal myocardium morphology	6804	STX1A	ORPHA:904
HP:0001637	Abnormal myocardium morphology	7461	CLIP2	ORPHA:904
HP:0001637	Abnormal myocardium morphology	84277	DNAJC30	ORPHA:904
HP:0001637	Abnormal myocardium morphology	8468	FKBP6	ORPHA:904
HP:0001637	Abnormal myocardium morphology	5982	RFC2	ORPHA:904
HP:0001637	Abnormal myocardium morphology	2969	GTF2I	ORPHA:904
HP:0001637	Abnormal myocardium morphology	3984	LIMK1	ORPHA:904
HP:0001637	Abnormal myocardium morphology	9569	GTF2IRD1	ORPHA:904
HP:0001637	Abnormal myocardium morphology	155382	VPS37D	ORPHA:904
HP:0001637	Abnormal myocardium morphology	155368	METTL27	ORPHA:904
HP:0001637	Abnormal myocardium morphology	114049	BUD23	ORPHA:904
HP:0001637	Abnormal myocardium morphology	7458	EIF4H	ORPHA:904
HP:0001637	Abnormal myocardium morphology	84163	GTF2IRD2	ORPHA:904
HP:0001637	Abnormal myocardium morphology	26608	TBL2	ORPHA:904
HP:0001637	Abnormal myocardium morphology	653361	NCF1	ORPHA:904
HP:0001637	Abnormal myocardium morphology	135886	TMEM270	ORPHA:904
HP:0001637	Abnormal myocardium morphology	9031	BAZ1B	ORPHA:904
HP:0001637	Abnormal myocardium morphology	2006	ELN	ORPHA:904
HP:0001637	Abnormal myocardium morphology	8557	TCAP	OMIM:607487
HP:0001637	Abnormal myocardium morphology	55210	ATAD3A	ORPHA:496790
HP:0001637	Abnormal myocardium morphology	55210	ATAD3A	OMIM:618810
HP:0001637	Abnormal myocardium morphology	55210	ATAD3A	OMIM:617183
HP:0001637	Abnormal myocardium morphology	2548	GAA	ORPHA:308552
HP:0001637	Abnormal myocardium morphology	4285	MIPEP	OMIM:617228
HP:0001637	Abnormal myocardium morphology	64135	IFIH1	OMIM:615846
HP:0001637	Abnormal myocardium morphology	64135	IFIH1	ORPHA:51
HP:0001637	Abnormal myocardium morphology	6901	TAFAZZIN	OMIM:302060
HP:0001637	Abnormal myocardium morphology	4221	MEN1	ORPHA:99725
HP:0001637	Abnormal myocardium morphology	388015	RTL1	ORPHA:96334
HP:0001637	Abnormal myocardium morphology	8788	DLK1	ORPHA:96334
HP:0001637	Abnormal myocardium morphology	55384	MEG3	ORPHA:96334
HP:0001637	Abnormal myocardium morphology	10661	KLF1	OMIM:613673
HP:0001637	Abnormal myocardium morphology	125988	MICOS13	OMIM:618329
HP:0001637	Abnormal myocardium morphology	6390	SDHB	ORPHA:3208
HP:0001637	Abnormal myocardium morphology	6392	SDHD	ORPHA:3208
HP:0001637	Abnormal myocardium morphology	644096	SDHAF1	ORPHA:3208
HP:0001637	Abnormal myocardium morphology	54148	MRPL39	OMIM:620646
HP:0001637	Abnormal myocardium morphology	122622	ADSS1	ORPHA:482601
HP:0001637	Abnormal myocardium morphology	2184	FAH	OMIM:276700
HP:0001637	Abnormal myocardium morphology	5836	PYGL	ORPHA:369
HP:0001637	Abnormal myocardium morphology	5837	PYGM	ORPHA:368
HP:0001637	Abnormal myocardium morphology	2010	EMD	ORPHA:98863
HP:0001637	Abnormal myocardium morphology	56246	MRAP	ORPHA:361
HP:0001637	Abnormal myocardium morphology	6770	STAR	ORPHA:361
HP:0001637	Abnormal myocardium morphology	4158	MC2R	ORPHA:361
HP:0001637	Abnormal myocardium morphology	23530	NNT	ORPHA:361
HP:0001637	Abnormal myocardium morphology	10587	TXNRD2	ORPHA:361
HP:0001637	Abnormal myocardium morphology	3845	KRAS	OMIM:600268
HP:0001637	Abnormal myocardium morphology	3845	KRAS	ORPHA:1340
HP:0001637	Abnormal myocardium morphology	3845	KRAS	OMIM:609942
HP:0001637	Abnormal myocardium morphology	3845	KRAS	ORPHA:648
HP:0001637	Abnormal myocardium morphology	57505	AARS2	OMIM:614096
HP:0001637	Abnormal myocardium morphology	5781	PTPN11	OMIM:151100
HP:0001637	Abnormal myocardium morphology	5781	PTPN11	ORPHA:500
HP:0001637	Abnormal myocardium morphology	5781	PTPN11	ORPHA:648
HP:0001637	Abnormal myocardium morphology	5781	PTPN11	OMIM:163950
HP:0001637	Abnormal myocardium morphology	1892	ECHS1	OMIM:616277
HP:0001637	Abnormal myocardium morphology	51117	COQ4	OMIM:616276
HP:0001637	Abnormal myocardium morphology	51067	YARS2	OMIM:613561
HP:0001637	Abnormal myocardium morphology	58497	PRUNE1	ORPHA:544469
HP:0001637	Abnormal myocardium morphology	826	CAPNS1	OMIM:620777
HP:0001637	Abnormal myocardium morphology	7351	UCP2	ORPHA:276556
HP:0001637	Abnormal myocardium morphology	6654	SOS1	OMIM:610733
HP:0001637	Abnormal myocardium morphology	6654	SOS1	ORPHA:648
HP:0001637	Abnormal myocardium morphology	10535	RNASEH2A	ORPHA:51
HP:0001637	Abnormal myocardium morphology	84153	RNASEH2C	ORPHA:51
HP:0001637	Abnormal myocardium morphology	25939	SAMHD1	ORPHA:51
HP:0001637	Abnormal myocardium morphology	79621	RNASEH2B	ORPHA:51
HP:0001637	Abnormal myocardium morphology	103	ADAR	ORPHA:51
HP:0001637	Abnormal myocardium morphology	100147744	RNU7-1	ORPHA:51
HP:0001637	Abnormal myocardium morphology	134353	LSM11	ORPHA:51
HP:0001637	Abnormal myocardium morphology	84705	GTPBP3	ORPHA:444013
HP:0001637	Abnormal myocardium morphology	84705	GTPBP3	OMIM:616198
HP:0001637	Abnormal myocardium morphology	79188	TMEM43	ORPHA:98853
HP:0001637	Abnormal myocardium morphology	23345	SYNE1	ORPHA:98853
HP:0001637	Abnormal myocardium morphology	3033	HADH	OMIM:231530
HP:0001637	Abnormal myocardium morphology	3033	HADH	ORPHA:71212
HP:0001637	Abnormal myocardium morphology	8048	CSRP3	OMIM:612124
HP:0001637	Abnormal myocardium morphology	5250	SLC25A3	ORPHA:91130
HP:0001637	Abnormal myocardium morphology	5250	SLC25A3	OMIM:610773
HP:0001637	Abnormal myocardium morphology	291	SLC25A4	ORPHA:1369
HP:0001637	Abnormal myocardium morphology	291	SLC25A4	OMIM:615418
HP:0001637	Abnormal myocardium morphology	291	SLC25A4	OMIM:617184
HP:0001637	Abnormal myocardium morphology	26007	TKFC	ORPHA:1369
HP:0001637	Abnormal myocardium morphology	55750	AGK	ORPHA:1369
HP:0001637	Abnormal myocardium morphology	55750	AGK	OMIM:212350
HP:0001637	Abnormal myocardium morphology	56945	MRPS22	OMIM:611719
HP:0001637	Abnormal myocardium morphology	4695	NDUFA2	OMIM:618235
HP:0001637	Abnormal myocardium morphology	4893	NRAS	OMIM:613224
HP:0001637	Abnormal myocardium morphology	4893	NRAS	ORPHA:648
HP:0001637	Abnormal myocardium morphology	6833	ABCC8	ORPHA:276575
HP:0001637	Abnormal myocardium morphology	79068	FTO	OMIM:612938
HP:0001637	Abnormal myocardium morphology	3767	KCNJ11	ORPHA:276580
HP:0001637	Abnormal myocardium morphology	27235	COQ2	OMIM:607426
HP:0001637	Abnormal myocardium morphology	4705	NDUFA10	OMIM:618243
HP:0001637	Abnormal myocardium morphology	388753	COA6	OMIM:616501
HP:0001637	Abnormal myocardium morphology	493753	COA5	OMIM:616500
HP:0001637	Abnormal myocardium morphology	11080	DNAJB4	OMIM:620326
HP:0001637	Abnormal myocardium morphology	5605	MAP2K2	ORPHA:1340
HP:0001637	Abnormal myocardium morphology	5605	MAP2K2	ORPHA:638
HP:0001637	Abnormal myocardium morphology	284086	NEK8	OMIM:615415
HP:0001637	Abnormal myocardium morphology	4634	MYL3	OMIM:608751
HP:0001637	Abnormal myocardium morphology	1349	COX7B	ORPHA:2556
HP:0001637	Abnormal myocardium morphology	3052	HCCS	ORPHA:2556
HP:0001637	Abnormal myocardium morphology	63931	MRPS14	OMIM:618378
HP:0001637	Abnormal myocardium morphology	22808	MRAS	OMIM:618499
HP:0001637	Abnormal myocardium morphology	22808	MRAS	ORPHA:648
HP:0001637	Abnormal myocardium morphology	8802	SUCLG1	ORPHA:17
HP:0001637	Abnormal myocardium morphology	7289	TULP3	OMIM:619902
HP:0001637	Abnormal myocardium morphology	7134	TNNC1	OMIM:613243
HP:0001637	Abnormal myocardium morphology	128989	TANGO2	OMIM:616878
HP:0001637	Abnormal myocardium morphology	9531	BAG3	OMIM:612954
HP:0001637	Abnormal myocardium morphology	37	ACADVL	OMIM:201475
HP:0001637	Abnormal myocardium morphology	4624	MYH6	OMIM:613251
HP:0001637	Abnormal myocardium morphology	11019	LIAS	OMIM:614462
HP:0001637	Abnormal myocardium morphology	26580	BSCL2	OMIM:269700
HP:0001637	Abnormal myocardium morphology	26580	BSCL2	ORPHA:528
HP:0001637	Abnormal myocardium morphology	11222	MRPL3	OMIM:614582
HP:0001637	Abnormal myocardium morphology	7167	TPI1	ORPHA:868
HP:0001637	Abnormal myocardium morphology	10112	KIF20A	ORPHA:75249
HP:0001637	Abnormal myocardium morphology	7040	TGFB1	ORPHA:1328
HP:0001637	Abnormal myocardium morphology	6472	SHMT2	OMIM:619121
HP:0001637	Abnormal myocardium morphology	1674	DES	OMIM:601419
HP:0001637	Abnormal myocardium morphology	60528	ELAC2	OMIM:615440
HP:0001637	Abnormal myocardium morphology	55278	QRSL1	OMIM:618835
HP:0001637	Abnormal myocardium morphology	202018	TAPT1	OMIM:616897
HP:0001637	Abnormal myocardium morphology	57570	TRMT5	OMIM:616539
HP:0001637	Abnormal myocardium morphology	617	BCS1L	OMIM:124000
HP:0001637	Abnormal myocardium morphology	4668	NAGA	ORPHA:79281
HP:0001637	Abnormal myocardium morphology	4668	NAGA	ORPHA:79279
HP:0001637	Abnormal myocardium morphology	51684	SUFU	OMIM:617757
HP:0001637	Abnormal myocardium morphology	22800	RRAS2	ORPHA:648
HP:0001637	Abnormal myocardium morphology	867	CBL	ORPHA:648
HP:0001637	Abnormal myocardium morphology	6237	RRAS	ORPHA:648
HP:0001637	Abnormal myocardium morphology	6655	SOS2	ORPHA:648
HP:0001637	Abnormal myocardium morphology	5922	RASA2	ORPHA:648
HP:0001637	Abnormal myocardium morphology	284119	CAVIN1	ORPHA:528
HP:0001637	Abnormal myocardium morphology	2353	FOS	ORPHA:528
HP:0001637	Abnormal myocardium morphology	857	CAV1	ORPHA:528
HP:0001637	Abnormal myocardium morphology	84233	TMEM126A	OMIM:612989
HP:0001637	Abnormal myocardium morphology	51778	MYOZ2	OMIM:613838
HP:0001637	Abnormal myocardium morphology	57538	ALPK3	OMIM:618052
HP:0001637	Abnormal myocardium morphology	129285	PPP1R21	OMIM:619383
HP:0001637	Abnormal myocardium morphology	9054	NFS1	OMIM:619386
HP:0001637	Abnormal myocardium morphology	523	ATP6V1A	OMIM:617403
HP:0001637	Abnormal myocardium morphology	96459	FNIP1	OMIM:619705
HP:0001637	Abnormal myocardium morphology	22868	FASTKD2	OMIM:618855
HP:0001637	Abnormal myocardium morphology	4713	NDUFB7	OMIM:620135
HP:0001637	Abnormal myocardium morphology	10486	CAP2	ORPHA:154
HP:0001637	Abnormal myocardium morphology	10486	CAP2	OMIM:620462
HP:0001637	Abnormal myocardium morphology	7716	VEZF1	ORPHA:154
HP:0001637	Abnormal myocardium morphology	7716	VEZF1	OMIM:620247
HP:0001637	Abnormal myocardium morphology	27063	ANKRD1	ORPHA:154
HP:0001637	Abnormal myocardium morphology	439	GET3	ORPHA:154
HP:0001637	Abnormal myocardium morphology	5664	PSEN2	ORPHA:154
HP:0001637	Abnormal myocardium morphology	5664	PSEN2	OMIM:613697
HP:0001637	Abnormal myocardium morphology	9529	BAG5	ORPHA:154
HP:0001637	Abnormal myocardium morphology	9529	BAG5	OMIM:619747
HP:0001637	Abnormal myocardium morphology	2274	FHL2	ORPHA:154
HP:0001637	Abnormal myocardium morphology	9015	TAF1A	ORPHA:154
HP:0001637	Abnormal myocardium morphology	5663	PSEN1	ORPHA:154
HP:0001637	Abnormal myocardium morphology	5663	PSEN1	OMIM:613694
HP:0001637	Abnormal myocardium morphology	7112	TMPO	ORPHA:154
HP:0001637	Abnormal myocardium morphology	9464	HAND2	ORPHA:154
HP:0001637	Abnormal myocardium morphology	6123	RPL3L	ORPHA:154
HP:0001637	Abnormal myocardium morphology	6123	RPL3L	OMIM:619371
HP:0001637	Abnormal myocardium morphology	1829	DSG2	ORPHA:154
HP:0001637	Abnormal myocardium morphology	1829	DSG2	OMIM:612877
HP:0001637	Abnormal myocardium morphology	3910	LAMA4	ORPHA:154
HP:0001637	Abnormal myocardium morphology	3910	LAMA4	OMIM:615235
HP:0001637	Abnormal myocardium morphology	63976	PRDM16	ORPHA:154
HP:0001637	Abnormal myocardium morphology	63976	PRDM16	OMIM:615373
HP:0001637	Abnormal myocardium morphology	63976	PRDM16	ORPHA:1606
HP:0001637	Abnormal myocardium morphology	79717	PPCS	ORPHA:154
HP:0001637	Abnormal myocardium morphology	79717	PPCS	OMIM:618189
HP:0001637	Abnormal myocardium morphology	282996	RBM20	ORPHA:154
HP:0001637	Abnormal myocardium morphology	282996	RBM20	OMIM:613172
HP:0001637	Abnormal myocardium morphology	22845	DOLK	ORPHA:154
HP:0001637	Abnormal myocardium morphology	22845	DOLK	ORPHA:91131
HP:0001637	Abnormal myocardium morphology	22845	DOLK	OMIM:610768
HP:0001637	Abnormal myocardium morphology	57798	GATAD1	ORPHA:154
HP:0001637	Abnormal myocardium morphology	57798	GATAD1	OMIM:614672
HP:0001637	Abnormal myocardium morphology	6444	SGCD	ORPHA:154
HP:0001637	Abnormal myocardium morphology	6444	SGCD	OMIM:606685
HP:0001637	Abnormal myocardium morphology	2070	EYA4	ORPHA:217622
HP:0001637	Abnormal myocardium morphology	2070	EYA4	OMIM:605362
HP:0001637	Abnormal myocardium morphology	23417	MLYCD	OMIM:248360
HP:0001637	Abnormal myocardium morphology	3909	LAMA3	ORPHA:79404
HP:0001637	Abnormal myocardium morphology	3918	LAMC2	ORPHA:79404
HP:0001637	Abnormal myocardium morphology	3914	LAMB3	ORPHA:79404
HP:0001637	Abnormal myocardium morphology	4312	MMP1	ORPHA:79408
HP:0001637	Abnormal myocardium morphology	1294	COL7A1	ORPHA:79408
HP:0001637	Abnormal myocardium morphology	1294	COL7A1	ORPHA:89842
HP:0001637	Abnormal myocardium morphology	197131	UBR1	OMIM:243800
HP:0001637	Abnormal myocardium morphology	7015	TERT	OMIM:613989
HP:0001637	Abnormal myocardium morphology	58528	RRAGD	OMIM:620152
HP:0001637	Abnormal myocardium morphology	79184	BRCC3	ORPHA:280679
HP:0001637	Abnormal myocardium morphology	5777	PTPN6	ORPHA:3243
HP:0001637	Abnormal myocardium morphology	64121	RRAGC	OMIM:620609
HP:0001637	Abnormal myocardium morphology	7156	TOP3A	OMIM:618097
HP:0001637	Abnormal myocardium morphology	5167	ENPP1	OMIM:208000
HP:0001637	Abnormal myocardium morphology	51086	TNNI3K	OMIM:616117
HP:0001637	Abnormal myocardium morphology	23230	VPS13A	ORPHA:2388
HP:0001637	Abnormal myocardium morphology	3043	HBB	ORPHA:231214
HP:0001637	Abnormal myocardium morphology	3043	HBB	ORPHA:231226
HP:0001637	Abnormal myocardium morphology	10290	SPEG	OMIM:615959
HP:0001637	Abnormal myocardium morphology	5590	PRKCZ	ORPHA:1606
HP:0001637	Abnormal myocardium morphology	2563	GABRD	ORPHA:1606
HP:0001637	Abnormal myocardium morphology	23013	SPEN	ORPHA:1606
HP:0001637	Abnormal myocardium morphology	8510	MMP23B	ORPHA:1606
HP:0001637	Abnormal myocardium morphology	7798	LUZP1	ORPHA:1606
HP:0001637	Abnormal myocardium morphology	6497	SKI	ORPHA:1606
HP:0001637	Abnormal myocardium morphology	10630	PDPN	ORPHA:1606
HP:0001637	Abnormal myocardium morphology	3339	HSPG2	ORPHA:1606
HP:0001637	Abnormal myocardium morphology	10277	UBE4B	ORPHA:1606
HP:0001637	Abnormal myocardium morphology	8514	KCNAB2	ORPHA:1606
HP:0001637	Abnormal myocardium morphology	473	RERE	ORPHA:1606
HP:0001637	Abnormal myocardium morphology	54897	CASZ1	ORPHA:1606
HP:0001637	Abnormal myocardium morphology	845	CASQ2	OMIM:604772
HP:0001637	Abnormal myocardium morphology	10345	TRDN	OMIM:604772
HP:0001637	Abnormal myocardium morphology	6262	RYR2	OMIM:604772
HP:0001637	Abnormal myocardium morphology	92667	MGME1	ORPHA:352447
HP:0001637	Abnormal myocardium morphology	92667	MGME1	OMIM:615084
HP:0001637	Abnormal myocardium morphology	2314	FLII	OMIM:620635
HP:0001637	Abnormal myocardium morphology	2065	ERBB3	OMIM:607598
HP:0001637	Abnormal myocardium morphology	55739	NAXD	OMIM:618321
HP:0001637	Abnormal myocardium morphology	140628	GATA5	OMIM:617912
HP:0001637	Abnormal myocardium morphology	6533	SLC6A6	OMIM:145350
HP:0001637	Abnormal myocardium morphology	55679	LIMS2	OMIM:616827
HP:0001637	Abnormal myocardium morphology	54344	DPM3	ORPHA:263494
HP:0001637	Abnormal myocardium morphology	54344	DPM3	OMIM:612937
HP:0001637	Abnormal myocardium morphology	11232	POLG2	ORPHA:254892
HP:0001637	Abnormal myocardium morphology	3155	HMGCL	ORPHA:20
HP:0001637	Abnormal myocardium morphology	57122	NUP107	OMIM:618348
HP:0001637	Abnormal myocardium morphology	57122	NUP107	OMIM:616730
HP:0001637	Abnormal myocardium morphology	10102	TSFM	OMIM:610505
HP:0001637	Abnormal myocardium morphology	1120	CHKB	OMIM:602541
HP:0001637	Abnormal myocardium morphology	55182	RNF220	OMIM:619688
HP:0001637	Abnormal myocardium morphology	27034	ACAD8	OMIM:611283
HP:0001637	Abnormal myocardium morphology	27034	ACAD8	ORPHA:79159
HP:0001637	Abnormal myocardium morphology	131118	DNAJC19	OMIM:610198
HP:0001637	Abnormal myocardium morphology	131118	DNAJC19	ORPHA:66634
HP:0001637	Abnormal myocardium morphology	50619	DEF6	OMIM:619573
HP:0001637	Abnormal myocardium morphology	23522	KAT6B	OMIM:603736
HP:0001637	Abnormal myocardium morphology	8884	SLC5A6	OMIM:619903
HP:0001637	Abnormal myocardium morphology	326625	MMAB	OMIM:251110
HP:0001637	Abnormal myocardium morphology	29123	ANKRD11	ORPHA:261250
HP:0001637	Abnormal myocardium morphology	51816	ADA2	OMIM:615688
HP:0001637	Abnormal myocardium morphology	7518	XRCC4	OMIM:616541
HP:0001637	Abnormal myocardium morphology	5236	PGM1	OMIM:614921
HP:0001637	Abnormal myocardium morphology	25974	MMACHC	ORPHA:79282
HP:0001637	Abnormal myocardium morphology	3593	IL12B	ORPHA:3287
HP:0001637	Abnormal myocardium morphology	6945	MLX	ORPHA:3287
HP:0001637	Abnormal myocardium morphology	3762	KCNJ5	ORPHA:37553
HP:0001637	Abnormal myocardium morphology	3759	KCNJ2	ORPHA:37553
HP:0001637	Abnormal myocardium morphology	6448	SGSH	OMIM:252900
HP:0001637	Abnormal myocardium morphology	138050	HGSNAT	OMIM:252930
HP:0001637	Abnormal myocardium morphology	4669	NAGLU	OMIM:252920
HP:0001637	Abnormal myocardium morphology	859	CAV3	OMIM:192600
HP:0001637	Abnormal myocardium morphology	85366	MYLK2	OMIM:192600
HP:0001637	Abnormal myocardium morphology	2799	GNS	OMIM:252940
HP:0001637	Abnormal myocardium morphology	80206	FHOD3	OMIM:619402
HP:0001637	Abnormal myocardium morphology	5054	SERPINE1	ORPHA:465
HP:0001637	Abnormal myocardium morphology	7840	ALMS1	ORPHA:64
HP:0001637	Abnormal myocardium morphology	3920	LAMP2	OMIM:300257
HP:0001637	Abnormal myocardium morphology	4633	MYL2	OMIM:619424
HP:0001637	Abnormal myocardium morphology	27068	PPA2	OMIM:617223
HP:0001637	Abnormal myocardium morphology	27068	PPA2	OMIM:617222
HP:0001637	Abnormal myocardium morphology	10848	PPP1R13L	OMIM:620519
HP:0001637	Abnormal myocardium morphology	4591	TRIM37	OMIM:253250
HP:0001637	Abnormal myocardium morphology	57158	JPH2	OMIM:613873
HP:0001637	Abnormal myocardium morphology	2218	FKTN	OMIM:253800
HP:0001637	Abnormal myocardium morphology	6729	SRP54	OMIM:260400
HP:0001637	Abnormal myocardium morphology	51119	SBDS	OMIM:260400
HP:0001637	Abnormal myocardium morphology	134218	DNAJC21	OMIM:260400
HP:0001637	Abnormal myocardium morphology	64131	XYLT1	OMIM:264800
HP:0001637	Abnormal myocardium morphology	64132	XYLT2	OMIM:264800
HP:0001637	Abnormal myocardium morphology	368	ABCC6	OMIM:264800
HP:0001637	Abnormal myocardium morphology	368	ABCC6	ORPHA:758
HP:0001637	Abnormal myocardium morphology	55388	MCM10	OMIM:619313
HP:0001637	Abnormal myocardium morphology	1062	CENPE	OMIM:616051
HP:0001637	Abnormal myocardium morphology	51604	PIGT	OMIM:615398
HP:0001637	Abnormal myocardium morphology	51604	PIGT	ORPHA:369837
HP:0001637	Abnormal myocardium morphology	2316	FLNA	ORPHA:88630
HP:0001637	Abnormal myocardium morphology	5156	PDGFRA	OMIM:607685
HP:0001637	Abnormal myocardium morphology	2038	EPB42	ORPHA:822
HP:0001637	Abnormal myocardium morphology	6521	SLC4A1	ORPHA:822
HP:0001637	Abnormal myocardium morphology	6710	SPTB	ORPHA:822
HP:0001637	Abnormal myocardium morphology	6708	SPTA1	ORPHA:822
HP:0001637	Abnormal myocardium morphology	286	ANK1	ORPHA:822
HP:0001637	Abnormal myocardium morphology	1201	CLN3	OMIM:204200
HP:0001637	Abnormal myocardium morphology	5318	PKP2	OMIM:609040
HP:0001637	Abnormal myocardium morphology	1824	DSC2	OMIM:610476
HP:0001637	Abnormal myocardium morphology	7043	TGFB3	OMIM:107970
HP:0001637	Abnormal myocardium morphology	6910	TBX5	OMIM:142900
HP:0001637	Abnormal myocardium morphology	57534	MIB1	OMIM:615092
HP:0001637	Abnormal myocardium morphology	4841	NONO	OMIM:300967
HP:0001637	Abnormal myocardium morphology	93649	MYOCD	OMIM:618719
HP:0001637	Abnormal myocardium morphology	135	ADORA2A	ORPHA:363549
HP:0001637	Abnormal myocardium morphology	114803	MYSM1	ORPHA:508542
HP:0001637	Abnormal myocardium morphology	1660	DHX9	OMIM:620988
HP:0001637	Abnormal myocardium morphology	1837	DTNA	OMIM:604169
HP:0001637	Abnormal myocardium morphology	100151683	RNU4ATAC	ORPHA:353298
HP:0001637	Abnormal myocardium morphology	100151683	RNU4ATAC	OMIM:616651
HP:0001637	Abnormal myocardium morphology	2879	GPX4	ORPHA:93317
HP:0001637	Abnormal myocardium morphology	2879	GPX4	OMIM:250220
HP:0001637	Abnormal myocardium morphology	801	CALM1	OMIM:616247
HP:0001637	Abnormal myocardium morphology	3662	IRF4	ORPHA:3452
HP:0001637	Abnormal myocardium morphology	10021	HCN4	OMIM:163800
HP:0001637	Abnormal myocardium morphology	805	CALM2	OMIM:616249
HP:0001637	Abnormal myocardium morphology	567	B2M	OMIM:620659
HP:0001637	Abnormal myocardium morphology	567	B2M	ORPHA:314652
HP:0001637	Abnormal myocardium morphology	6288	SAA1	ORPHA:85445
HP:0001637	Abnormal myocardium morphology	7138	TNNT1	OMIM:620386
HP:0001637	Abnormal myocardium morphology	4607	MYBPC3	OMIM:115197
HP:0001637	Abnormal myocardium morphology	442721	LMOD2	OMIM:619897
HP:0001637	Abnormal myocardium morphology	7414	VCL	OMIM:613255
HP:0001637	Abnormal myocardium morphology	7137	TNNI3	OMIM:611880
HP:0001637	Abnormal myocardium morphology	70	ACTC1	OMIM:613424
HP:0001637	Abnormal myocardium morphology	88	ACTN2	OMIM:612158
HP:0001637	Abnormal myocardium morphology	54800	KLHL24	OMIM:620236
HP:0001637	Abnormal myocardium morphology	2702	GJA5	OMIM:108770
HP:0001638	Cardiomyopathy	1832	DSP	ORPHA:158687
HP:0001638	Cardiomyopathy	3728	JUP	ORPHA:158687
HP:0001638	Cardiomyopathy	3728	JUP	ORPHA:34217
HP:0001638	Cardiomyopathy	29925	GMPPB	OMIM:615352
HP:0001638	Cardiomyopathy	29925	GMPPB	ORPHA:370959
HP:0001638	Cardiomyopathy	29925	GMPPB	ORPHA:363623
HP:0001638	Cardiomyopathy	80308	FLAD1	OMIM:255100
HP:0001638	Cardiomyopathy	1161	ERCC8	ORPHA:90324
HP:0001638	Cardiomyopathy	2074	ERCC6	ORPHA:90324
HP:0001638	Cardiomyopathy	50484	RRM2B	ORPHA:329336
HP:0001638	Cardiomyopathy	50484	RRM2B	ORPHA:480
HP:0001638	Cardiomyopathy	246243	RNASEH1	ORPHA:329336
HP:0001638	Cardiomyopathy	50717	DCAF8	OMIM:610100
HP:0001638	Cardiomyopathy	1355	COX15	OMIM:615119
HP:0001638	Cardiomyopathy	2997	GYS1	OMIM:611556
HP:0001638	Cardiomyopathy	148738	HJV	OMIM:602390
HP:0001638	Cardiomyopathy	4758	NEU1	OMIM:256550
HP:0001638	Cardiomyopathy	58	ACTA1	ORPHA:171433
HP:0001638	Cardiomyopathy	58	ACTA1	ORPHA:171439
HP:0001638	Cardiomyopathy	4703	NEB	ORPHA:171433
HP:0001638	Cardiomyopathy	4703	NEB	ORPHA:171439
HP:0001638	Cardiomyopathy	4703	NEB	ORPHA:399103
HP:0001638	Cardiomyopathy	10324	KLHL41	ORPHA:171433
HP:0001638	Cardiomyopathy	10324	KLHL41	ORPHA:171439
HP:0001638	Cardiomyopathy	7170	TPM3	ORPHA:171433
HP:0001638	Cardiomyopathy	7170	TPM3	ORPHA:171439
HP:0001638	Cardiomyopathy	7273	TTN	OMIM:608807
HP:0001638	Cardiomyopathy	7273	TTN	ORPHA:609
HP:0001638	Cardiomyopathy	7273	TTN	OMIM:600334
HP:0001638	Cardiomyopathy	1352	COX10	OMIM:619046
HP:0001638	Cardiomyopathy	25782	RAB3GAP2	OMIM:212720
HP:0001638	Cardiomyopathy	30061	SLC40A1	OMIM:606069
HP:0001638	Cardiomyopathy	3908	LAMA2	ORPHA:258
HP:0001638	Cardiomyopathy	11155	LDB3	OMIM:609452
HP:0001638	Cardiomyopathy	11155	LDB3	ORPHA:98912
HP:0001638	Cardiomyopathy	6023	RMRP	ORPHA:175
HP:0001638	Cardiomyopathy	1738	DLD	ORPHA:2394
HP:0001638	Cardiomyopathy	284058	KANSL1	ORPHA:363958
HP:0001638	Cardiomyopathy	284058	KANSL1	ORPHA:363965
HP:0001638	Cardiomyopathy	191	AHCY	OMIM:613752
HP:0001638	Cardiomyopathy	191	AHCY	ORPHA:88618
HP:0001638	Cardiomyopathy	3423	IDS	ORPHA:217085
HP:0001638	Cardiomyopathy	3423	IDS	ORPHA:217093
HP:0001638	Cardiomyopathy	8878	SQSTM1	ORPHA:603
HP:0001638	Cardiomyopathy	7072	TIA1	ORPHA:603
HP:0001638	Cardiomyopathy	7555	CNBP	ORPHA:606
HP:0001638	Cardiomyopathy	9499	MYOT	OMIM:609200
HP:0001638	Cardiomyopathy	9499	MYOT	ORPHA:98911
HP:0001638	Cardiomyopathy	10020	GNE	ORPHA:602
HP:0001638	Cardiomyopathy	7276	TTR	OMIM:105210
HP:0001638	Cardiomyopathy	7276	TTR	ORPHA:85447
HP:0001638	Cardiomyopathy	10555	AGPAT2	OMIM:608594
HP:0001638	Cardiomyopathy	5095	PCCA	OMIM:606054
HP:0001638	Cardiomyopathy	5095	PCCA	ORPHA:35
HP:0001638	Cardiomyopathy	5096	PCCB	OMIM:606054
HP:0001638	Cardiomyopathy	5096	PCCB	ORPHA:35
HP:0001638	Cardiomyopathy	10367	MICU1	ORPHA:401768
HP:0001638	Cardiomyopathy	7466	WFS1	OMIM:222300
HP:0001638	Cardiomyopathy	7466	WFS1	ORPHA:3463
HP:0001638	Cardiomyopathy	9896	FIG4	ORPHA:3472
HP:0001638	Cardiomyopathy	9896	FIG4	OMIM:216340
HP:0001638	Cardiomyopathy	55697	VAC14	ORPHA:3472
HP:0001638	Cardiomyopathy	2992	GYG1	ORPHA:263297
HP:0001638	Cardiomyopathy	10352	WARS2	ORPHA:572798
HP:0001638	Cardiomyopathy	10352	WARS2	OMIM:617710
HP:0001638	Cardiomyopathy	79158	GNPTAB	OMIM:252600
HP:0001638	Cardiomyopathy	79158	GNPTAB	ORPHA:576
HP:0001638	Cardiomyopathy	3425	IDUA	OMIM:607014
HP:0001638	Cardiomyopathy	3425	IDUA	ORPHA:93473
HP:0001638	Cardiomyopathy	3425	IDUA	ORPHA:93476
HP:0001638	Cardiomyopathy	2395	FXN	ORPHA:95
HP:0001638	Cardiomyopathy	788	SLC25A20	ORPHA:159
HP:0001638	Cardiomyopathy	788	SLC25A20	OMIM:212138
HP:0001638	Cardiomyopathy	5373	PMM2	OMIM:212065
HP:0001638	Cardiomyopathy	10585	POMT1	OMIM:609308
HP:0001638	Cardiomyopathy	10585	POMT1	ORPHA:370959
HP:0001638	Cardiomyopathy	10585	POMT1	ORPHA:86812
HP:0001638	Cardiomyopathy	10585	POMT1	OMIM:613155
HP:0001638	Cardiomyopathy	92482	BBIP1	ORPHA:110
HP:0001638	Cardiomyopathy	80184	CEP290	ORPHA:110
HP:0001638	Cardiomyopathy	11020	IFT27	ORPHA:110
HP:0001638	Cardiomyopathy	582	BBS1	ORPHA:110
HP:0001638	Cardiomyopathy	49855	SCAPER	ORPHA:110
HP:0001638	Cardiomyopathy	4867	NPHP1	ORPHA:110
HP:0001638	Cardiomyopathy	51057	WDPCP	ORPHA:110
HP:0001638	Cardiomyopathy	132320	SCLT1	ORPHA:110
HP:0001638	Cardiomyopathy	27241	BBS9	ORPHA:110
HP:0001638	Cardiomyopathy	84984	CEP19	ORPHA:110
HP:0001638	Cardiomyopathy	22954	TRIM32	ORPHA:110
HP:0001638	Cardiomyopathy	54903	MKS1	ORPHA:110
HP:0001638	Cardiomyopathy	79738	BBS10	ORPHA:110
HP:0001638	Cardiomyopathy	123016	TTC8	ORPHA:110
HP:0001638	Cardiomyopathy	26160	IFT172	ORPHA:110
HP:0001638	Cardiomyopathy	583	BBS2	ORPHA:110
HP:0001638	Cardiomyopathy	585	BBS4	ORPHA:110
HP:0001638	Cardiomyopathy	8195	MKKS	ORPHA:110
HP:0001638	Cardiomyopathy	54585	LZTFL1	ORPHA:110
HP:0001638	Cardiomyopathy	55212	BBS7	ORPHA:110
HP:0001638	Cardiomyopathy	166379	BBS12	ORPHA:110
HP:0001638	Cardiomyopathy	10806	SDCCAG8	ORPHA:110
HP:0001638	Cardiomyopathy	157657	CFAP418	ORPHA:110
HP:0001638	Cardiomyopathy	84100	ARL6	ORPHA:110
HP:0001638	Cardiomyopathy	129880	BBS5	ORPHA:110
HP:0001638	Cardiomyopathy	80173	IFT74	ORPHA:110
HP:0001638	Cardiomyopathy	51594	NBAS	OMIM:616483
HP:0001638	Cardiomyopathy	1594	CYP27B1	ORPHA:289157
HP:0001638	Cardiomyopathy	120227	CYP2R1	ORPHA:289157
HP:0001638	Cardiomyopathy	2318	FLNC	OMIM:614065
HP:0001638	Cardiomyopathy	2318	FLNC	ORPHA:171445
HP:0001638	Cardiomyopathy	2318	FLNC	ORPHA:63273
HP:0001638	Cardiomyopathy	84665	MYPN	OMIM:617336
HP:0001638	Cardiomyopathy	84665	MYPN	ORPHA:171439
HP:0001638	Cardiomyopathy	8239	USP9X	ORPHA:480880
HP:0001638	Cardiomyopathy	7058	THBS2	OMIM:620865
HP:0001638	Cardiomyopathy	3418	IDH2	OMIM:613657
HP:0001638	Cardiomyopathy	773	CACNA1A	ORPHA:2131
HP:0001638	Cardiomyopathy	6507	SLC1A3	ORPHA:2131
HP:0001638	Cardiomyopathy	477	ATP1A2	ORPHA:2131
HP:0001638	Cardiomyopathy	478	ATP1A3	ORPHA:2131
HP:0001638	Cardiomyopathy	493856	CISD2	ORPHA:3463
HP:0001638	Cardiomyopathy	9049	AIP	OMIM:102200
HP:0001638	Cardiomyopathy	56052	ALG1	ORPHA:79327
HP:0001638	Cardiomyopathy	56052	ALG1	OMIM:608540
HP:0001638	Cardiomyopathy	728294	D2HGDH	OMIM:600721
HP:0001638	Cardiomyopathy	2934	GSN	ORPHA:85448
HP:0001638	Cardiomyopathy	2934	GSN	OMIM:105120
HP:0001638	Cardiomyopathy	1654	DDX3X	ORPHA:3338
HP:0001638	Cardiomyopathy	111	ADCY5	OMIM:619647
HP:0001638	Cardiomyopathy	111	ADCY5	OMIM:619651
HP:0001638	Cardiomyopathy	25973	PARS2	OMIM:618437
HP:0001638	Cardiomyopathy	5191	PEX7	OMIM:614879
HP:0001638	Cardiomyopathy	5191	PEX7	OMIM:266500
HP:0001638	Cardiomyopathy	5191	PEX7	ORPHA:773
HP:0001638	Cardiomyopathy	3178	HNRNPA1	ORPHA:52430
HP:0001638	Cardiomyopathy	7415	VCP	ORPHA:52430
HP:0001638	Cardiomyopathy	7415	VCP	ORPHA:329478
HP:0001638	Cardiomyopathy	3181	HNRNPA2B1	ORPHA:52430
HP:0001638	Cardiomyopathy	57104	PNPLA2	OMIM:610717
HP:0001638	Cardiomyopathy	57104	PNPLA2	ORPHA:565612
HP:0001638	Cardiomyopathy	57104	PNPLA2	ORPHA:98908
HP:0001638	Cardiomyopathy	57724	EPG5	OMIM:242840
HP:0001638	Cardiomyopathy	57724	EPG5	ORPHA:1493
HP:0001638	Cardiomyopathy	2239	GPC4	ORPHA:373
HP:0001638	Cardiomyopathy	2239	GPC4	OMIM:312870
HP:0001638	Cardiomyopathy	2719	GPC3	ORPHA:373
HP:0001638	Cardiomyopathy	2719	GPC3	OMIM:312870
HP:0001638	Cardiomyopathy	1028	CDKN1C	OMIM:130650
HP:0001638	Cardiomyopathy	3481	IGF2	OMIM:130650
HP:0001638	Cardiomyopathy	3784	KCNQ1	OMIM:130650
HP:0001638	Cardiomyopathy	10984	KCNQ1OT1	OMIM:130650
HP:0001638	Cardiomyopathy	654	BMP6	ORPHA:465508
HP:0001638	Cardiomyopathy	3077	HFE	ORPHA:465508
HP:0001638	Cardiomyopathy	3077	HFE	OMIM:235200
HP:0001638	Cardiomyopathy	7169	TPM2	ORPHA:171439
HP:0001638	Cardiomyopathy	390594	KBTBD13	ORPHA:171439
HP:0001638	Cardiomyopathy	57817	HAMP	OMIM:613313
HP:0001638	Cardiomyopathy	404672	GTF2H5	ORPHA:33364
HP:0001638	Cardiomyopathy	833	CARS1	ORPHA:33364
HP:0001638	Cardiomyopathy	2068	ERCC2	ORPHA:33364
HP:0001638	Cardiomyopathy	7737	RNF113A	ORPHA:33364
HP:0001638	Cardiomyopathy	136647	MPLKIP	ORPHA:33364
HP:0001638	Cardiomyopathy	6897	TARS1	ORPHA:33364
HP:0001638	Cardiomyopathy	16	AARS1	ORPHA:33364
HP:0001638	Cardiomyopathy	2071	ERCC3	ORPHA:33364
HP:0001638	Cardiomyopathy	2961	GTF2E2	ORPHA:33364
HP:0001638	Cardiomyopathy	3954	LETM1	OMIM:620089
HP:0001638	Cardiomyopathy	10195	ALG3	ORPHA:79321
HP:0001638	Cardiomyopathy	23676	SMPX	OMIM:301075
HP:0001638	Cardiomyopathy	11277	TREX1	ORPHA:247691
HP:0001638	Cardiomyopathy	11277	TREX1	OMIM:225750
HP:0001638	Cardiomyopathy	4509	MT-ATP8	ORPHA:480
HP:0001638	Cardiomyopathy	4567	MT-TL1	ORPHA:480
HP:0001638	Cardiomyopathy	4567	MT-TL1	ORPHA:550
HP:0001638	Cardiomyopathy	4567	MT-TL1	ORPHA:324525
HP:0001638	Cardiomyopathy	5256	PHKA2	ORPHA:264580
HP:0001638	Cardiomyopathy	5261	PHKG2	ORPHA:264580
HP:0001638	Cardiomyopathy	335	APOA1	OMIM:620657
HP:0001638	Cardiomyopathy	4878	NPPA	OMIM:615745
HP:0001638	Cardiomyopathy	4878	NPPA	ORPHA:1344
HP:0001638	Cardiomyopathy	8216	LZTR1	OMIM:605275
HP:0001638	Cardiomyopathy	6443	SGCB	ORPHA:119
HP:0001638	Cardiomyopathy	4594	MMUT	ORPHA:79312
HP:0001638	Cardiomyopathy	4594	MMUT	OMIM:251000
HP:0001638	Cardiomyopathy	4558	MT-TF	ORPHA:550
HP:0001638	Cardiomyopathy	4572	MT-TQ	ORPHA:550
HP:0001638	Cardiomyopathy	4512	MT-CO1	ORPHA:550
HP:0001638	Cardiomyopathy	4513	MT-CO2	ORPHA:550
HP:0001638	Cardiomyopathy	4514	MT-CO3	ORPHA:550
HP:0001638	Cardiomyopathy	4578	MT-TW	ORPHA:550
HP:0001638	Cardiomyopathy	4540	MT-ND5	ORPHA:550
HP:0001638	Cardiomyopathy	4541	MT-ND6	ORPHA:550
HP:0001638	Cardiomyopathy	4535	MT-ND1	ORPHA:550
HP:0001638	Cardiomyopathy	4538	MT-ND4	ORPHA:550
HP:0001638	Cardiomyopathy	4574	MT-TS1	ORPHA:550
HP:0001638	Cardiomyopathy	4575	MT-TS2	ORPHA:550
HP:0001638	Cardiomyopathy	4564	MT-TH	ORPHA:550
HP:0001638	Cardiomyopathy	51422	PRKAG2	OMIM:261740
HP:0001638	Cardiomyopathy	2632	GBE1	OMIM:232500
HP:0001638	Cardiomyopathy	1410	CRYAB	ORPHA:399058
HP:0001638	Cardiomyopathy	4508	MT-ATP6	ORPHA:320360
HP:0001638	Cardiomyopathy	1756	DMD	OMIM:310200
HP:0001638	Cardiomyopathy	1756	DMD	ORPHA:98896
HP:0001638	Cardiomyopathy	1756	DMD	OMIM:300376
HP:0001638	Cardiomyopathy	5428	POLG	OMIM:258450
HP:0001638	Cardiomyopathy	5428	POLG	ORPHA:254886
HP:0001638	Cardiomyopathy	81570	CLPB	ORPHA:445038
HP:0001638	Cardiomyopathy	411	ARSB	OMIM:253200
HP:0001638	Cardiomyopathy	6442	SGCA	OMIM:608099
HP:0001638	Cardiomyopathy	7084	TK2	ORPHA:254886
HP:0001638	Cardiomyopathy	3714	JAG2	OMIM:619566
HP:0001638	Cardiomyopathy	5264	PHYH	OMIM:266500
HP:0001638	Cardiomyopathy	5264	PHYH	ORPHA:773
HP:0001638	Cardiomyopathy	10073	SNUPN	OMIM:620793
HP:0001638	Cardiomyopathy	2720	GLB1	ORPHA:79255
HP:0001638	Cardiomyopathy	3756	KCNH1	OMIM:135500
HP:0001638	Cardiomyopathy	10560	SLC19A2	OMIM:249270
HP:0001638	Cardiomyopathy	6331	SCN5A	ORPHA:1344
HP:0001638	Cardiomyopathy	10616	RBCK1	OMIM:615895
HP:0001638	Cardiomyopathy	708	C1QBP	OMIM:617713
HP:0001638	Cardiomyopathy	9325	TRIP4	OMIM:616866
HP:0001638	Cardiomyopathy	4000	LMNA	OMIM:212112
HP:0001638	Cardiomyopathy	4000	LMNA	OMIM:151660
HP:0001638	Cardiomyopathy	56652	TWNK	OMIM:609286
HP:0001638	Cardiomyopathy	2771	GNAI2	OMIM:192605
HP:0001638	Cardiomyopathy	8425	LTBP4	ORPHA:98896
HP:0001638	Cardiomyopathy	650	BMP2	OMIM:235200
HP:0001638	Cardiomyopathy	4976	OPA1	ORPHA:1215
HP:0001638	Cardiomyopathy	6197	RPS6KA3	ORPHA:192
HP:0001638	Cardiomyopathy	51095	TRNT1	OMIM:616084
HP:0001638	Cardiomyopathy	4576	MT-TT	ORPHA:254857
HP:0001638	Cardiomyopathy	35	ACADS	OMIM:201470
HP:0001638	Cardiomyopathy	35	ACADS	ORPHA:26792
HP:0001638	Cardiomyopathy	3257	HPS1	OMIM:203300
HP:0001638	Cardiomyopathy	3704	ITPA	OMIM:616647
HP:0001638	Cardiomyopathy	3032	HADHB	ORPHA:746
HP:0001638	Cardiomyopathy	3030	HADHA	ORPHA:746
HP:0001638	Cardiomyopathy	3030	HADHA	OMIM:609016
HP:0001638	Cardiomyopathy	7036	TFR2	OMIM:604250
HP:0001638	Cardiomyopathy	79147	FKRP	ORPHA:370959
HP:0001638	Cardiomyopathy	29954	POMT2	ORPHA:370959
HP:0001638	Cardiomyopathy	84197	POMK	ORPHA:370959
HP:0001638	Cardiomyopathy	55624	POMGNT1	ORPHA:370959
HP:0001638	Cardiomyopathy	4716	NDUFB10	OMIM:619003
HP:0001638	Cardiomyopathy	7504	XK	OMIM:300842
HP:0001638	Cardiomyopathy	283459	GATC	OMIM:618839
HP:0001638	Cardiomyopathy	2273	FHL1	OMIM:300280
HP:0001638	Cardiomyopathy	55670	PEX26	ORPHA:772
HP:0001638	Cardiomyopathy	5824	PEX19	ORPHA:772
HP:0001638	Cardiomyopathy	5828	PEX2	ORPHA:772
HP:0001638	Cardiomyopathy	8504	PEX3	ORPHA:772
HP:0001638	Cardiomyopathy	9409	PEX16	ORPHA:772
HP:0001638	Cardiomyopathy	5190	PEX6	ORPHA:772
HP:0001638	Cardiomyopathy	8799	PEX11B	ORPHA:772
HP:0001638	Cardiomyopathy	5830	PEX5	ORPHA:772
HP:0001638	Cardiomyopathy	5189	PEX1	ORPHA:772
HP:0001638	Cardiomyopathy	5193	PEX12	ORPHA:772
HP:0001638	Cardiomyopathy	5194	PEX13	ORPHA:772
HP:0001638	Cardiomyopathy	5195	PEX14	ORPHA:772
HP:0001638	Cardiomyopathy	5192	PEX10	ORPHA:772
HP:0001638	Cardiomyopathy	7428	VHL	ORPHA:892
HP:0001638	Cardiomyopathy	595	CCND1	ORPHA:892
HP:0001638	Cardiomyopathy	6389	SDHA	OMIM:619259
HP:0001638	Cardiomyopathy	178	AGL	OMIM:232400
HP:0001638	Cardiomyopathy	51099	ABHD5	ORPHA:98907
HP:0001638	Cardiomyopathy	2990	GUSB	OMIM:253220
HP:0001638	Cardiomyopathy	84700	MYO18B	OMIM:616549
HP:0001638	Cardiomyopathy	55005	RMND1	OMIM:614922
HP:0001638	Cardiomyopathy	9997	SCO2	ORPHA:521411
HP:0001638	Cardiomyopathy	3643	INSR	ORPHA:769
HP:0001638	Cardiomyopathy	1376	CPT2	ORPHA:228305
HP:0001638	Cardiomyopathy	1376	CPT2	ORPHA:228308
HP:0001638	Cardiomyopathy	23224	SYNE2	OMIM:612999
HP:0001638	Cardiomyopathy	203859	ANO5	ORPHA:206549
HP:0001638	Cardiomyopathy	6584	SLC22A5	OMIM:212140
HP:0001638	Cardiomyopathy	1374	CPT1A	ORPHA:156
HP:0001638	Cardiomyopathy	8243	SMC1A	OMIM:300590
HP:0001638	Cardiomyopathy	10128	LRPPRC	OMIM:220111
HP:0001638	Cardiomyopathy	10128	LRPPRC	ORPHA:70472
HP:0001638	Cardiomyopathy	8036	SHOC2	OMIM:607721
HP:0001638	Cardiomyopathy	8036	SHOC2	ORPHA:2701
HP:0001638	Cardiomyopathy	54539	NDUFB11	ORPHA:2609
HP:0001638	Cardiomyopathy	54539	NDUFB11	ORPHA:2556
HP:0001638	Cardiomyopathy	25915	NDUFAF3	ORPHA:2609
HP:0001638	Cardiomyopathy	51103	NDUFAF1	ORPHA:2609
HP:0001638	Cardiomyopathy	51103	NDUFAF1	OMIM:618234
HP:0001638	Cardiomyopathy	91942	NDUFAF2	ORPHA:2609
HP:0001638	Cardiomyopathy	51300	TIMMDC1	ORPHA:2609
HP:0001638	Cardiomyopathy	4723	NDUFV1	ORPHA:2609
HP:0001638	Cardiomyopathy	55572	FOXRED1	ORPHA:2609
HP:0001638	Cardiomyopathy	55572	FOXRED1	OMIM:618241
HP:0001638	Cardiomyopathy	284184	NDUFAF8	ORPHA:2609
HP:0001638	Cardiomyopathy	55863	TMEM126B	ORPHA:2609
HP:0001638	Cardiomyopathy	55863	TMEM126B	OMIM:618250
HP:0001638	Cardiomyopathy	4537	MT-ND3	ORPHA:2609
HP:0001638	Cardiomyopathy	4537	MT-ND3	ORPHA:255210
HP:0001638	Cardiomyopathy	4729	NDUFV2	ORPHA:2609
HP:0001638	Cardiomyopathy	4729	NDUFV2	OMIM:618229
HP:0001638	Cardiomyopathy	4694	NDUFA1	ORPHA:2609
HP:0001638	Cardiomyopathy	4720	NDUFS2	ORPHA:2609
HP:0001638	Cardiomyopathy	4720	NDUFS2	OMIM:618228
HP:0001638	Cardiomyopathy	4724	NDUFS4	ORPHA:2609
HP:0001638	Cardiomyopathy	4724	NDUFS4	OMIM:252010
HP:0001638	Cardiomyopathy	4726	NDUFS6	ORPHA:2609
HP:0001638	Cardiomyopathy	4728	NDUFS8	ORPHA:2609
HP:0001638	Cardiomyopathy	4728	NDUFS8	OMIM:618222
HP:0001638	Cardiomyopathy	4722	NDUFS3	ORPHA:2609
HP:0001638	Cardiomyopathy	79133	NDUFAF5	ORPHA:2609
HP:0001638	Cardiomyopathy	126328	NDUFA11	ORPHA:2609
HP:0001638	Cardiomyopathy	126328	NDUFA11	OMIM:618236
HP:0001638	Cardiomyopathy	4709	NDUFB3	ORPHA:2609
HP:0001638	Cardiomyopathy	80224	NUBPL	ORPHA:2609
HP:0001638	Cardiomyopathy	29078	NDUFAF4	ORPHA:2609
HP:0001638	Cardiomyopathy	29078	NDUFAF4	OMIM:618237
HP:0001638	Cardiomyopathy	374291	NDUFS7	ORPHA:2609
HP:0001638	Cardiomyopathy	4700	NDUFA6	ORPHA:2609
HP:0001638	Cardiomyopathy	4536	MT-ND2	ORPHA:2609
HP:0001638	Cardiomyopathy	4536	MT-ND2	ORPHA:255210
HP:0001638	Cardiomyopathy	4719	NDUFS1	ORPHA:2609
HP:0001638	Cardiomyopathy	4715	NDUFB9	ORPHA:2609
HP:0001638	Cardiomyopathy	26235	FBXL4	OMIM:615471
HP:0001638	Cardiomyopathy	4570	MT-TN	OMIM:220110
HP:0001638	Cardiomyopathy	6834	SURF1	OMIM:220110
HP:0001638	Cardiomyopathy	55532	SLC30A10	ORPHA:309854
HP:0001638	Cardiomyopathy	6016	RIT1	OMIM:615355
HP:0001638	Cardiomyopathy	6016	RIT1	ORPHA:648
HP:0001638	Cardiomyopathy	5894	RAF1	OMIM:611554
HP:0001638	Cardiomyopathy	5894	RAF1	OMIM:611553
HP:0001638	Cardiomyopathy	5894	RAF1	ORPHA:500
HP:0001638	Cardiomyopathy	5894	RAF1	ORPHA:648
HP:0001638	Cardiomyopathy	673	BRAF	OMIM:115150
HP:0001638	Cardiomyopathy	673	BRAF	ORPHA:1340
HP:0001638	Cardiomyopathy	673	BRAF	ORPHA:500
HP:0001638	Cardiomyopathy	673	BRAF	OMIM:613706
HP:0001638	Cardiomyopathy	673	BRAF	OMIM:163950
HP:0001638	Cardiomyopathy	25821	MTO1	OMIM:614702
HP:0001638	Cardiomyopathy	84334	COA8	ORPHA:436271
HP:0001638	Cardiomyopathy	57176	VARS2	OMIM:615917
HP:0001638	Cardiomyopathy	9690	UBE3C	OMIM:620270
HP:0001638	Cardiomyopathy	4577	MT-TV	ORPHA:255210
HP:0001638	Cardiomyopathy	4566	MT-TK	ORPHA:255210
HP:0001638	Cardiomyopathy	4566	MT-TK	ORPHA:1349
HP:0001638	Cardiomyopathy	54968	TMEM70	ORPHA:1194
HP:0001638	Cardiomyopathy	54968	TMEM70	OMIM:614052
HP:0001638	Cardiomyopathy	70	ACTC1	OMIM:612098
HP:0001638	Cardiomyopathy	65082	VPS33A	OMIM:617303
HP:0001638	Cardiomyopathy	65082	VPS33A	ORPHA:505248
HP:0001638	Cardiomyopathy	3764	KCNJ8	ORPHA:1517
HP:0001638	Cardiomyopathy	10060	ABCC9	ORPHA:1517
HP:0001638	Cardiomyopathy	1340	COX6B1	OMIM:619051
HP:0001638	Cardiomyopathy	84987	COX14	OMIM:619053
HP:0001638	Cardiomyopathy	514	ATP5F1E	ORPHA:254913
HP:0001638	Cardiomyopathy	514	ATP5F1E	OMIM:614053
HP:0001638	Cardiomyopathy	513	ATP5F1D	ORPHA:254913
HP:0001638	Cardiomyopathy	498	ATP5F1A	ORPHA:254913
HP:0001638	Cardiomyopathy	84833	ATP5MK	ORPHA:254913
HP:0001638	Cardiomyopathy	84833	ATP5MK	OMIM:618683
HP:0001638	Cardiomyopathy	91647	ATPAF2	ORPHA:254913
HP:0001638	Cardiomyopathy	1757	SARDH	ORPHA:3129
HP:0001638	Cardiomyopathy	57158	JPH2	OMIM:613873
HP:0001638	Cardiomyopathy	5468	PPARG	ORPHA:79083
HP:0001638	Cardiomyopathy	5468	PPARG	ORPHA:528
HP:0001638	Cardiomyopathy	5350	PLN	OMIM:613874
HP:0001638	Cardiomyopathy	91624	NEXN	OMIM:613876
HP:0001638	Cardiomyopathy	4625	MYH7	OMIM:608358
HP:0001638	Cardiomyopathy	4625	MYH7	OMIM:255160
HP:0001638	Cardiomyopathy	29967	LRP12	OMIM:164310
HP:0001638	Cardiomyopathy	672	BRCA1	ORPHA:84
HP:0001638	Cardiomyopathy	10459	MAD2L2	ORPHA:84
HP:0001638	Cardiomyopathy	7516	XRCC2	ORPHA:84
HP:0001638	Cardiomyopathy	29089	UBE2T	ORPHA:84
HP:0001638	Cardiomyopathy	675	BRCA2	ORPHA:84
HP:0001638	Cardiomyopathy	55120	FANCL	ORPHA:84
HP:0001638	Cardiomyopathy	2177	FANCD2	ORPHA:84
HP:0001638	Cardiomyopathy	2175	FANCA	ORPHA:84
HP:0001638	Cardiomyopathy	2187	FANCB	ORPHA:84
HP:0001638	Cardiomyopathy	2176	FANCC	ORPHA:84
HP:0001638	Cardiomyopathy	2178	FANCE	ORPHA:84
HP:0001638	Cardiomyopathy	2188	FANCF	ORPHA:84
HP:0001638	Cardiomyopathy	2189	FANCG	ORPHA:84
HP:0001638	Cardiomyopathy	5888	RAD51	ORPHA:84
HP:0001638	Cardiomyopathy	5889	RAD51C	ORPHA:84
HP:0001638	Cardiomyopathy	55159	RFWD3	ORPHA:84
HP:0001638	Cardiomyopathy	83990	BRIP1	ORPHA:84
HP:0001638	Cardiomyopathy	57697	FANCM	ORPHA:84
HP:0001638	Cardiomyopathy	79728	PALB2	ORPHA:84
HP:0001638	Cardiomyopathy	84464	SLX4	ORPHA:84
HP:0001638	Cardiomyopathy	2072	ERCC4	ORPHA:84
HP:0001638	Cardiomyopathy	55215	FANCI	ORPHA:84
HP:0001638	Cardiomyopathy	54675	CRLS1	OMIM:620167
HP:0001638	Cardiomyopathy	83550	GPR101	ORPHA:963
HP:0001638	Cardiomyopathy	2626	GATA4	ORPHA:251071
HP:0001638	Cardiomyopathy	1717	DHCR7	OMIM:270400
HP:0001638	Cardiomyopathy	7274	TTPA	ORPHA:96
HP:0001638	Cardiomyopathy	203286	ANKS6	OMIM:615382
HP:0001638	Cardiomyopathy	4763	NF1	ORPHA:363700
HP:0001638	Cardiomyopathy	4763	NF1	OMIM:162200
HP:0001638	Cardiomyopathy	4763	NF1	ORPHA:97685
HP:0001638	Cardiomyopathy	4763	NF1	ORPHA:638
HP:0001638	Cardiomyopathy	7386	UQCRFS1	OMIM:618775
HP:0001638	Cardiomyopathy	5500	PPP1CB	ORPHA:2701
HP:0001638	Cardiomyopathy	5500	PPP1CB	OMIM:617506
HP:0001638	Cardiomyopathy	388962	BOLA3	OMIM:614299
HP:0001638	Cardiomyopathy	200734	SPRED2	OMIM:619745
HP:0001638	Cardiomyopathy	200734	SPRED2	ORPHA:648
HP:0001638	Cardiomyopathy	28976	ACAD9	ORPHA:99901
HP:0001638	Cardiomyopathy	28976	ACAD9	OMIM:611126
HP:0001638	Cardiomyopathy	3265	HRAS	OMIM:218040
HP:0001638	Cardiomyopathy	3265	HRAS	ORPHA:3071
HP:0001638	Cardiomyopathy	7168	TPM1	OMIM:115196
HP:0001638	Cardiomyopathy	4607	MYBPC3	OMIM:115197
HP:0001638	Cardiomyopathy	65080	MRPL44	OMIM:615395
HP:0001638	Cardiomyopathy	3028	HSD17B10	OMIM:300438
HP:0001638	Cardiomyopathy	3028	HSD17B10	ORPHA:391457
HP:0001638	Cardiomyopathy	3028	HSD17B10	ORPHA:391428
HP:0001638	Cardiomyopathy	5604	MAP2K1	OMIM:615279
HP:0001638	Cardiomyopathy	5604	MAP2K1	ORPHA:1340
HP:0001638	Cardiomyopathy	5604	MAP2K1	OMIM:163950
HP:0001638	Cardiomyopathy	7139	TNNT2	OMIM:115195
HP:0001638	Cardiomyopathy	7139	TNNT2	ORPHA:75249
HP:0001638	Cardiomyopathy	6804	STX1A	ORPHA:904
HP:0001638	Cardiomyopathy	7461	CLIP2	ORPHA:904
HP:0001638	Cardiomyopathy	84277	DNAJC30	ORPHA:904
HP:0001638	Cardiomyopathy	8468	FKBP6	ORPHA:904
HP:0001638	Cardiomyopathy	5982	RFC2	ORPHA:904
HP:0001638	Cardiomyopathy	2969	GTF2I	ORPHA:904
HP:0001638	Cardiomyopathy	3984	LIMK1	ORPHA:904
HP:0001638	Cardiomyopathy	9569	GTF2IRD1	ORPHA:904
HP:0001638	Cardiomyopathy	155382	VPS37D	ORPHA:904
HP:0001638	Cardiomyopathy	155368	METTL27	ORPHA:904
HP:0001638	Cardiomyopathy	114049	BUD23	ORPHA:904
HP:0001638	Cardiomyopathy	7458	EIF4H	ORPHA:904
HP:0001638	Cardiomyopathy	84163	GTF2IRD2	ORPHA:904
HP:0001638	Cardiomyopathy	26608	TBL2	ORPHA:904
HP:0001638	Cardiomyopathy	653361	NCF1	ORPHA:904
HP:0001638	Cardiomyopathy	135886	TMEM270	ORPHA:904
HP:0001638	Cardiomyopathy	9031	BAZ1B	ORPHA:904
HP:0001638	Cardiomyopathy	2006	ELN	ORPHA:904
HP:0001638	Cardiomyopathy	8557	TCAP	OMIM:607487
HP:0001638	Cardiomyopathy	81031	SLC2A10	ORPHA:3342
HP:0001638	Cardiomyopathy	55210	ATAD3A	ORPHA:496790
HP:0001638	Cardiomyopathy	55210	ATAD3A	OMIM:618810
HP:0001638	Cardiomyopathy	55210	ATAD3A	OMIM:617183
HP:0001638	Cardiomyopathy	2548	GAA	ORPHA:308552
HP:0001638	Cardiomyopathy	27068	PPA2	OMIM:617222
HP:0001638	Cardiomyopathy	4285	MIPEP	OMIM:617228
HP:0001638	Cardiomyopathy	64135	IFIH1	OMIM:615846
HP:0001638	Cardiomyopathy	64135	IFIH1	ORPHA:51
HP:0001638	Cardiomyopathy	6901	TAFAZZIN	OMIM:302060
HP:0001638	Cardiomyopathy	4221	MEN1	ORPHA:99725
HP:0001638	Cardiomyopathy	388015	RTL1	ORPHA:96334
HP:0001638	Cardiomyopathy	8788	DLK1	ORPHA:96334
HP:0001638	Cardiomyopathy	55384	MEG3	ORPHA:96334
HP:0001638	Cardiomyopathy	10661	KLF1	OMIM:613673
HP:0001638	Cardiomyopathy	125988	MICOS13	OMIM:618329
HP:0001638	Cardiomyopathy	6390	SDHB	ORPHA:3208
HP:0001638	Cardiomyopathy	6392	SDHD	ORPHA:3208
HP:0001638	Cardiomyopathy	644096	SDHAF1	ORPHA:3208
HP:0001638	Cardiomyopathy	54148	MRPL39	OMIM:620646
HP:0001638	Cardiomyopathy	122622	ADSS1	ORPHA:482601
HP:0001638	Cardiomyopathy	2184	FAH	OMIM:276700
HP:0001638	Cardiomyopathy	5836	PYGL	ORPHA:369
HP:0001638	Cardiomyopathy	5837	PYGM	ORPHA:368
HP:0001638	Cardiomyopathy	2010	EMD	ORPHA:98863
HP:0001638	Cardiomyopathy	56246	MRAP	ORPHA:361
HP:0001638	Cardiomyopathy	6770	STAR	ORPHA:361
HP:0001638	Cardiomyopathy	4158	MC2R	ORPHA:361
HP:0001638	Cardiomyopathy	23530	NNT	ORPHA:361
HP:0001638	Cardiomyopathy	10587	TXNRD2	ORPHA:361
HP:0001638	Cardiomyopathy	3845	KRAS	OMIM:600268
HP:0001638	Cardiomyopathy	3845	KRAS	ORPHA:1340
HP:0001638	Cardiomyopathy	3845	KRAS	OMIM:609942
HP:0001638	Cardiomyopathy	3845	KRAS	ORPHA:648
HP:0001638	Cardiomyopathy	57505	AARS2	OMIM:614096
HP:0001638	Cardiomyopathy	5781	PTPN11	OMIM:151100
HP:0001638	Cardiomyopathy	5781	PTPN11	ORPHA:500
HP:0001638	Cardiomyopathy	5781	PTPN11	ORPHA:648
HP:0001638	Cardiomyopathy	5781	PTPN11	OMIM:163950
HP:0001638	Cardiomyopathy	4633	MYL2	OMIM:619424
HP:0001638	Cardiomyopathy	4633	MYL2	OMIM:608758
HP:0001638	Cardiomyopathy	1892	ECHS1	OMIM:616277
HP:0001638	Cardiomyopathy	51117	COQ4	OMIM:616276
HP:0001638	Cardiomyopathy	51067	YARS2	OMIM:613561
HP:0001638	Cardiomyopathy	58497	PRUNE1	ORPHA:544469
HP:0001638	Cardiomyopathy	826	CAPNS1	OMIM:620777
HP:0001638	Cardiomyopathy	7351	UCP2	ORPHA:276556
HP:0001638	Cardiomyopathy	6654	SOS1	OMIM:610733
HP:0001638	Cardiomyopathy	6654	SOS1	ORPHA:648
HP:0001638	Cardiomyopathy	10535	RNASEH2A	ORPHA:51
HP:0001638	Cardiomyopathy	84153	RNASEH2C	ORPHA:51
HP:0001638	Cardiomyopathy	25939	SAMHD1	ORPHA:51
HP:0001638	Cardiomyopathy	79621	RNASEH2B	ORPHA:51
HP:0001638	Cardiomyopathy	103	ADAR	ORPHA:51
HP:0001638	Cardiomyopathy	100147744	RNU7-1	ORPHA:51
HP:0001638	Cardiomyopathy	134353	LSM11	ORPHA:51
HP:0001638	Cardiomyopathy	84705	GTPBP3	ORPHA:444013
HP:0001638	Cardiomyopathy	84705	GTPBP3	OMIM:616198
HP:0001638	Cardiomyopathy	79188	TMEM43	ORPHA:98853
HP:0001638	Cardiomyopathy	23345	SYNE1	ORPHA:98853
HP:0001638	Cardiomyopathy	7137	TNNI3	OMIM:613690
HP:0001638	Cardiomyopathy	7137	TNNI3	ORPHA:75249
HP:0001638	Cardiomyopathy	3033	HADH	OMIM:231530
HP:0001638	Cardiomyopathy	3033	HADH	ORPHA:71212
HP:0001638	Cardiomyopathy	8048	CSRP3	OMIM:612124
HP:0001638	Cardiomyopathy	5250	SLC25A3	ORPHA:91130
HP:0001638	Cardiomyopathy	5250	SLC25A3	OMIM:610773
HP:0001638	Cardiomyopathy	291	SLC25A4	ORPHA:1369
HP:0001638	Cardiomyopathy	291	SLC25A4	OMIM:615418
HP:0001638	Cardiomyopathy	291	SLC25A4	OMIM:617184
HP:0001638	Cardiomyopathy	26007	TKFC	ORPHA:1369
HP:0001638	Cardiomyopathy	55750	AGK	ORPHA:1369
HP:0001638	Cardiomyopathy	55750	AGK	OMIM:212350
HP:0001638	Cardiomyopathy	56945	MRPS22	OMIM:611719
HP:0001638	Cardiomyopathy	4695	NDUFA2	OMIM:618235
HP:0001638	Cardiomyopathy	4893	NRAS	OMIM:613224
HP:0001638	Cardiomyopathy	4893	NRAS	ORPHA:648
HP:0001638	Cardiomyopathy	6833	ABCC8	ORPHA:276575
HP:0001638	Cardiomyopathy	3920	LAMP2	ORPHA:34587
HP:0001638	Cardiomyopathy	3920	LAMP2	OMIM:300257
HP:0001638	Cardiomyopathy	79068	FTO	OMIM:612938
HP:0001638	Cardiomyopathy	3767	KCNJ11	ORPHA:276580
HP:0001638	Cardiomyopathy	27235	COQ2	OMIM:607426
HP:0001638	Cardiomyopathy	4705	NDUFA10	OMIM:618243
HP:0001638	Cardiomyopathy	388753	COA6	OMIM:616501
HP:0001638	Cardiomyopathy	493753	COA5	OMIM:616500
HP:0001638	Cardiomyopathy	11080	DNAJB4	OMIM:620326
HP:0001638	Cardiomyopathy	5605	MAP2K2	ORPHA:1340
HP:0001638	Cardiomyopathy	5605	MAP2K2	ORPHA:638
HP:0001638	Cardiomyopathy	284086	NEK8	OMIM:615415
HP:0001638	Cardiomyopathy	4634	MYL3	OMIM:608751
HP:0001638	Cardiomyopathy	2717	GLA	ORPHA:324
HP:0001638	Cardiomyopathy	1349	COX7B	ORPHA:2556
HP:0001638	Cardiomyopathy	3052	HCCS	ORPHA:2556
HP:0001638	Cardiomyopathy	63931	MRPS14	OMIM:618378
HP:0001638	Cardiomyopathy	22808	MRAS	OMIM:618499
HP:0001638	Cardiomyopathy	22808	MRAS	ORPHA:648
HP:0001638	Cardiomyopathy	8802	SUCLG1	ORPHA:17
HP:0001638	Cardiomyopathy	7289	TULP3	OMIM:619902
HP:0001638	Cardiomyopathy	7134	TNNC1	OMIM:613243
HP:0001638	Cardiomyopathy	88	ACTN2	OMIM:612158
HP:0001638	Cardiomyopathy	128989	TANGO2	OMIM:616878
HP:0001638	Cardiomyopathy	9531	BAG3	OMIM:612954
HP:0001638	Cardiomyopathy	37	ACADVL	OMIM:201475
HP:0001638	Cardiomyopathy	4624	MYH6	OMIM:613251
HP:0001638	Cardiomyopathy	11019	LIAS	OMIM:614462
HP:0001638	Cardiomyopathy	26580	BSCL2	OMIM:269700
HP:0001638	Cardiomyopathy	26580	BSCL2	ORPHA:528
HP:0001638	Cardiomyopathy	11222	MRPL3	OMIM:614582
HP:0001638	Cardiomyopathy	7414	VCL	OMIM:613255
HP:0001638	Cardiomyopathy	7167	TPI1	ORPHA:868
HP:0001638	Cardiomyopathy	10112	KIF20A	ORPHA:75249
HP:0001638	Cardiomyopathy	7040	TGFB1	ORPHA:1328
HP:0001638	Cardiomyopathy	6472	SHMT2	OMIM:619121
HP:0001638	Cardiomyopathy	1674	DES	OMIM:601419
HP:0001638	Cardiomyopathy	60528	ELAC2	OMIM:615440
HP:0001638	Cardiomyopathy	55278	QRSL1	OMIM:618835
HP:0001638	Cardiomyopathy	202018	TAPT1	OMIM:616897
HP:0001638	Cardiomyopathy	57570	TRMT5	OMIM:616539
HP:0001638	Cardiomyopathy	617	BCS1L	OMIM:124000
HP:0001638	Cardiomyopathy	4668	NAGA	ORPHA:79281
HP:0001638	Cardiomyopathy	4668	NAGA	ORPHA:79279
HP:0001638	Cardiomyopathy	51684	SUFU	OMIM:617757
HP:0001638	Cardiomyopathy	22800	RRAS2	ORPHA:648
HP:0001638	Cardiomyopathy	867	CBL	ORPHA:648
HP:0001638	Cardiomyopathy	6237	RRAS	ORPHA:648
HP:0001638	Cardiomyopathy	6655	SOS2	ORPHA:648
HP:0001638	Cardiomyopathy	5922	RASA2	ORPHA:648
HP:0001638	Cardiomyopathy	284119	CAVIN1	ORPHA:528
HP:0001638	Cardiomyopathy	2353	FOS	ORPHA:528
HP:0001638	Cardiomyopathy	857	CAV1	ORPHA:528
HP:0001638	Cardiomyopathy	84233	TMEM126A	OMIM:612989
HP:0001638	Cardiomyopathy	51778	MYOZ2	OMIM:613838
HP:0001638	Cardiomyopathy	57538	ALPK3	OMIM:618052
HP:0001638	Cardiomyopathy	129285	PPP1R21	OMIM:619383
HP:0001638	Cardiomyopathy	9054	NFS1	OMIM:619386
HP:0001638	Cardiomyopathy	523	ATP6V1A	OMIM:617403
HP:0001638	Cardiomyopathy	96459	FNIP1	OMIM:619705
HP:0001638	Cardiomyopathy	22868	FASTKD2	OMIM:618855
HP:0001638	Cardiomyopathy	4713	NDUFB7	OMIM:620135
HP:0001638	Cardiomyopathy	2218	FKTN	ORPHA:272
HP:0001638	Cardiomyopathy	2218	FKTN	ORPHA:154
HP:0001638	Cardiomyopathy	2218	FKTN	OMIM:611615
HP:0001638	Cardiomyopathy	2218	FKTN	OMIM:253800
HP:0001638	Cardiomyopathy	10486	CAP2	ORPHA:154
HP:0001638	Cardiomyopathy	10486	CAP2	OMIM:620462
HP:0001638	Cardiomyopathy	7716	VEZF1	ORPHA:154
HP:0001638	Cardiomyopathy	7716	VEZF1	OMIM:620247
HP:0001638	Cardiomyopathy	27063	ANKRD1	ORPHA:154
HP:0001638	Cardiomyopathy	439	GET3	ORPHA:154
HP:0001638	Cardiomyopathy	5664	PSEN2	ORPHA:154
HP:0001638	Cardiomyopathy	5664	PSEN2	OMIM:613697
HP:0001638	Cardiomyopathy	9529	BAG5	ORPHA:154
HP:0001638	Cardiomyopathy	9529	BAG5	OMIM:619747
HP:0001638	Cardiomyopathy	2274	FHL2	ORPHA:154
HP:0001638	Cardiomyopathy	442721	LMOD2	ORPHA:154
HP:0001638	Cardiomyopathy	442721	LMOD2	OMIM:619897
HP:0001638	Cardiomyopathy	9015	TAF1A	ORPHA:154
HP:0001638	Cardiomyopathy	5663	PSEN1	ORPHA:154
HP:0001638	Cardiomyopathy	5663	PSEN1	OMIM:613694
HP:0001638	Cardiomyopathy	7112	TMPO	ORPHA:154
HP:0001638	Cardiomyopathy	9464	HAND2	ORPHA:154
HP:0001638	Cardiomyopathy	6123	RPL3L	ORPHA:154
HP:0001638	Cardiomyopathy	6123	RPL3L	OMIM:619371
HP:0001638	Cardiomyopathy	1829	DSG2	ORPHA:154
HP:0001638	Cardiomyopathy	1829	DSG2	OMIM:612877
HP:0001638	Cardiomyopathy	3910	LAMA4	ORPHA:154
HP:0001638	Cardiomyopathy	3910	LAMA4	OMIM:615235
HP:0001638	Cardiomyopathy	63976	PRDM16	ORPHA:154
HP:0001638	Cardiomyopathy	63976	PRDM16	OMIM:615373
HP:0001638	Cardiomyopathy	63976	PRDM16	ORPHA:1606
HP:0001638	Cardiomyopathy	79717	PPCS	ORPHA:154
HP:0001638	Cardiomyopathy	79717	PPCS	OMIM:618189
HP:0001638	Cardiomyopathy	282996	RBM20	ORPHA:154
HP:0001638	Cardiomyopathy	282996	RBM20	OMIM:613172
HP:0001638	Cardiomyopathy	22845	DOLK	ORPHA:154
HP:0001638	Cardiomyopathy	22845	DOLK	ORPHA:91131
HP:0001638	Cardiomyopathy	22845	DOLK	OMIM:610768
HP:0001638	Cardiomyopathy	57798	GATAD1	ORPHA:154
HP:0001638	Cardiomyopathy	57798	GATAD1	OMIM:614672
HP:0001638	Cardiomyopathy	6444	SGCD	ORPHA:154
HP:0001638	Cardiomyopathy	6444	SGCD	OMIM:606685
HP:0001638	Cardiomyopathy	2070	EYA4	ORPHA:217622
HP:0001638	Cardiomyopathy	2070	EYA4	OMIM:605362
HP:0001638	Cardiomyopathy	23417	MLYCD	OMIM:248360
HP:0001638	Cardiomyopathy	3909	LAMA3	ORPHA:79404
HP:0001638	Cardiomyopathy	3918	LAMC2	ORPHA:79404
HP:0001638	Cardiomyopathy	3914	LAMB3	ORPHA:79404
HP:0001638	Cardiomyopathy	4312	MMP1	ORPHA:79408
HP:0001638	Cardiomyopathy	1294	COL7A1	ORPHA:79408
HP:0001638	Cardiomyopathy	1294	COL7A1	ORPHA:89842
HP:0001638	Cardiomyopathy	197131	UBR1	OMIM:243800
HP:0001638	Cardiomyopathy	7015	TERT	OMIM:613989
HP:0001638	Cardiomyopathy	58528	RRAGD	OMIM:620152
HP:0001638	Cardiomyopathy	79184	BRCC3	ORPHA:280679
HP:0001638	Cardiomyopathy	4210	MEFV	ORPHA:3243
HP:0001638	Cardiomyopathy	4210	MEFV	OMIM:608068
HP:0001638	Cardiomyopathy	5777	PTPN6	ORPHA:3243
HP:0001638	Cardiomyopathy	7840	ALMS1	OMIM:203800
HP:0001638	Cardiomyopathy	7840	ALMS1	ORPHA:64
HP:0001638	Cardiomyopathy	64121	RRAGC	OMIM:620609
HP:0001638	Cardiomyopathy	7156	TOP3A	OMIM:618097
HP:0001638	Cardiomyopathy	5167	ENPP1	OMIM:208000
HP:0001638	Cardiomyopathy	51086	TNNI3K	OMIM:616117
HP:0001638	Cardiomyopathy	23230	VPS13A	ORPHA:2388
HP:0001638	Cardiomyopathy	3043	HBB	ORPHA:231214
HP:0001638	Cardiomyopathy	3043	HBB	ORPHA:231226
HP:0001638	Cardiomyopathy	10290	SPEG	OMIM:615959
HP:0001638	Cardiomyopathy	5590	PRKCZ	ORPHA:1606
HP:0001638	Cardiomyopathy	2563	GABRD	ORPHA:1606
HP:0001638	Cardiomyopathy	23013	SPEN	ORPHA:1606
HP:0001638	Cardiomyopathy	8510	MMP23B	ORPHA:1606
HP:0001638	Cardiomyopathy	7798	LUZP1	ORPHA:1606
HP:0001638	Cardiomyopathy	6497	SKI	ORPHA:1606
HP:0001638	Cardiomyopathy	10630	PDPN	ORPHA:1606
HP:0001638	Cardiomyopathy	3339	HSPG2	ORPHA:1606
HP:0001638	Cardiomyopathy	10277	UBE4B	ORPHA:1606
HP:0001638	Cardiomyopathy	8514	KCNAB2	ORPHA:1606
HP:0001638	Cardiomyopathy	473	RERE	ORPHA:1606
HP:0001638	Cardiomyopathy	54897	CASZ1	ORPHA:1606
HP:0001638	Cardiomyopathy	845	CASQ2	OMIM:604772
HP:0001638	Cardiomyopathy	10345	TRDN	OMIM:604772
HP:0001638	Cardiomyopathy	6262	RYR2	OMIM:604772
HP:0001638	Cardiomyopathy	92667	MGME1	ORPHA:352447
HP:0001638	Cardiomyopathy	92667	MGME1	OMIM:615084
HP:0001638	Cardiomyopathy	2314	FLII	OMIM:620635
HP:0001638	Cardiomyopathy	2065	ERBB3	OMIM:607598
HP:0001638	Cardiomyopathy	55739	NAXD	OMIM:618321
HP:0001638	Cardiomyopathy	10848	PPP1R13L	OMIM:620519
HP:0001638	Cardiomyopathy	140628	GATA5	OMIM:617912
HP:0001638	Cardiomyopathy	6533	SLC6A6	OMIM:145350
HP:0001638	Cardiomyopathy	55679	LIMS2	OMIM:616827
HP:0001638	Cardiomyopathy	54344	DPM3	ORPHA:263494
HP:0001638	Cardiomyopathy	54344	DPM3	OMIM:612937
HP:0001638	Cardiomyopathy	11232	POLG2	ORPHA:254892
HP:0001638	Cardiomyopathy	3155	HMGCL	ORPHA:20
HP:0001638	Cardiomyopathy	57122	NUP107	OMIM:618348
HP:0001638	Cardiomyopathy	57122	NUP107	OMIM:616730
HP:0001638	Cardiomyopathy	10102	TSFM	OMIM:610505
HP:0001638	Cardiomyopathy	1120	CHKB	OMIM:602541
HP:0001638	Cardiomyopathy	55182	RNF220	OMIM:619688
HP:0001638	Cardiomyopathy	27034	ACAD8	OMIM:611283
HP:0001638	Cardiomyopathy	27034	ACAD8	ORPHA:79159
HP:0001638	Cardiomyopathy	131118	DNAJC19	OMIM:610198
HP:0001638	Cardiomyopathy	131118	DNAJC19	ORPHA:66634
HP:0001638	Cardiomyopathy	50619	DEF6	OMIM:619573
HP:0001638	Cardiomyopathy	23522	KAT6B	OMIM:603736
HP:0001638	Cardiomyopathy	8884	SLC5A6	OMIM:619903
HP:0001638	Cardiomyopathy	326625	MMAB	OMIM:251110
HP:0001638	Cardiomyopathy	29123	ANKRD11	ORPHA:261250
HP:0001638	Cardiomyopathy	51816	ADA2	OMIM:615688
HP:0001638	Cardiomyopathy	7518	XRCC4	OMIM:616541
HP:0001638	Cardiomyopathy	5236	PGM1	OMIM:614921
HP:0001638	Cardiomyopathy	25974	MMACHC	ORPHA:79282
HP:0001638	Cardiomyopathy	3593	IL12B	ORPHA:3287
HP:0001638	Cardiomyopathy	3106	HLA-B	ORPHA:3287
HP:0001638	Cardiomyopathy	6945	MLX	ORPHA:3287
HP:0001638	Cardiomyopathy	3762	KCNJ5	ORPHA:37553
HP:0001638	Cardiomyopathy	3759	KCNJ2	ORPHA:37553
HP:0001638	Cardiomyopathy	54800	KLHL24	OMIM:620236
HP:0001638	Cardiomyopathy	6448	SGSH	OMIM:252900
HP:0001638	Cardiomyopathy	138050	HGSNAT	OMIM:252930
HP:0001638	Cardiomyopathy	4669	NAGLU	OMIM:252920
HP:0001638	Cardiomyopathy	859	CAV3	OMIM:192600
HP:0001638	Cardiomyopathy	85366	MYLK2	OMIM:192600
HP:0001638	Cardiomyopathy	2799	GNS	OMIM:252940
HP:0001638	Cardiomyopathy	80206	FHOD3	OMIM:619402
HP:0001638	Cardiomyopathy	64131	XYLT1	OMIM:264800
HP:0001638	Cardiomyopathy	64132	XYLT2	OMIM:264800
HP:0001638	Cardiomyopathy	368	ABCC6	OMIM:264800
HP:0001638	Cardiomyopathy	368	ABCC6	ORPHA:758
HP:0001638	Cardiomyopathy	55388	MCM10	OMIM:619313
HP:0001638	Cardiomyopathy	1062	CENPE	OMIM:616051
HP:0001638	Cardiomyopathy	51604	PIGT	OMIM:615398
HP:0001638	Cardiomyopathy	51604	PIGT	ORPHA:369837
HP:0001638	Cardiomyopathy	2316	FLNA	ORPHA:88630
HP:0001638	Cardiomyopathy	5156	PDGFRA	OMIM:607685
HP:0001638	Cardiomyopathy	2038	EPB42	ORPHA:822
HP:0001638	Cardiomyopathy	6521	SLC4A1	ORPHA:822
HP:0001638	Cardiomyopathy	6710	SPTB	ORPHA:822
HP:0001638	Cardiomyopathy	6708	SPTA1	ORPHA:822
HP:0001638	Cardiomyopathy	286	ANK1	ORPHA:822
HP:0001638	Cardiomyopathy	1201	CLN3	OMIM:204200
HP:0001638	Cardiomyopathy	5318	PKP2	OMIM:609040
HP:0001638	Cardiomyopathy	1824	DSC2	OMIM:610476
HP:0001638	Cardiomyopathy	7043	TGFB3	OMIM:107970
HP:0001638	Cardiomyopathy	6910	TBX5	OMIM:142900
HP:0001638	Cardiomyopathy	57534	MIB1	OMIM:615092
HP:0001638	Cardiomyopathy	4841	NONO	OMIM:300967
HP:0001638	Cardiomyopathy	93649	MYOCD	OMIM:618719
HP:0001638	Cardiomyopathy	135	ADORA2A	ORPHA:363549
HP:0001638	Cardiomyopathy	114803	MYSM1	ORPHA:508542
HP:0001638	Cardiomyopathy	1660	DHX9	OMIM:620988
HP:0001638	Cardiomyopathy	1837	DTNA	OMIM:604169
HP:0001638	Cardiomyopathy	100151683	RNU4ATAC	ORPHA:353298
HP:0001638	Cardiomyopathy	100151683	RNU4ATAC	OMIM:616651
HP:0001638	Cardiomyopathy	2702	GJA5	OMIM:108770
HP:0001639	Hypertrophic cardiomyopathy	1374	CPT1A	ORPHA:156
HP:0001639	Hypertrophic cardiomyopathy	8243	SMC1A	OMIM:300590
HP:0001639	Hypertrophic cardiomyopathy	10128	LRPPRC	OMIM:220111
HP:0001639	Hypertrophic cardiomyopathy	10128	LRPPRC	ORPHA:70472
HP:0001639	Hypertrophic cardiomyopathy	8036	SHOC2	OMIM:607721
HP:0001639	Hypertrophic cardiomyopathy	8036	SHOC2	ORPHA:2701
HP:0001639	Hypertrophic cardiomyopathy	1410	CRYAB	OMIM:608810
HP:0001639	Hypertrophic cardiomyopathy	54539	NDUFB11	ORPHA:2609
HP:0001639	Hypertrophic cardiomyopathy	54539	NDUFB11	ORPHA:2556
HP:0001639	Hypertrophic cardiomyopathy	25915	NDUFAF3	ORPHA:2609
HP:0001639	Hypertrophic cardiomyopathy	51103	NDUFAF1	ORPHA:2609
HP:0001639	Hypertrophic cardiomyopathy	51103	NDUFAF1	OMIM:618234
HP:0001639	Hypertrophic cardiomyopathy	91942	NDUFAF2	ORPHA:2609
HP:0001639	Hypertrophic cardiomyopathy	51300	TIMMDC1	ORPHA:2609
HP:0001639	Hypertrophic cardiomyopathy	4716	NDUFB10	ORPHA:2609
HP:0001639	Hypertrophic cardiomyopathy	4723	NDUFV1	ORPHA:2609
HP:0001639	Hypertrophic cardiomyopathy	55572	FOXRED1	ORPHA:2609
HP:0001639	Hypertrophic cardiomyopathy	55572	FOXRED1	OMIM:618241
HP:0001639	Hypertrophic cardiomyopathy	284184	NDUFAF8	ORPHA:2609
HP:0001639	Hypertrophic cardiomyopathy	55863	TMEM126B	ORPHA:2609
HP:0001639	Hypertrophic cardiomyopathy	55863	TMEM126B	OMIM:618250
HP:0001639	Hypertrophic cardiomyopathy	4535	MT-ND1	ORPHA:2609
HP:0001639	Hypertrophic cardiomyopathy	4535	MT-ND1	ORPHA:255210
HP:0001639	Hypertrophic cardiomyopathy	4535	MT-ND1	ORPHA:550
HP:0001639	Hypertrophic cardiomyopathy	4537	MT-ND3	ORPHA:2609
HP:0001639	Hypertrophic cardiomyopathy	4537	MT-ND3	ORPHA:255210
HP:0001639	Hypertrophic cardiomyopathy	4729	NDUFV2	ORPHA:2609
HP:0001639	Hypertrophic cardiomyopathy	4729	NDUFV2	OMIM:618229
HP:0001639	Hypertrophic cardiomyopathy	4694	NDUFA1	ORPHA:2609
HP:0001639	Hypertrophic cardiomyopathy	4720	NDUFS2	ORPHA:2609
HP:0001639	Hypertrophic cardiomyopathy	4720	NDUFS2	OMIM:618228
HP:0001639	Hypertrophic cardiomyopathy	4724	NDUFS4	ORPHA:2609
HP:0001639	Hypertrophic cardiomyopathy	4724	NDUFS4	OMIM:252010
HP:0001639	Hypertrophic cardiomyopathy	4726	NDUFS6	ORPHA:2609
HP:0001639	Hypertrophic cardiomyopathy	4728	NDUFS8	ORPHA:2609
HP:0001639	Hypertrophic cardiomyopathy	4728	NDUFS8	OMIM:618222
HP:0001639	Hypertrophic cardiomyopathy	4722	NDUFS3	ORPHA:2609
HP:0001639	Hypertrophic cardiomyopathy	79133	NDUFAF5	ORPHA:2609
HP:0001639	Hypertrophic cardiomyopathy	126328	NDUFA11	ORPHA:2609
HP:0001639	Hypertrophic cardiomyopathy	126328	NDUFA11	OMIM:618236
HP:0001639	Hypertrophic cardiomyopathy	4709	NDUFB3	ORPHA:2609
HP:0001639	Hypertrophic cardiomyopathy	80224	NUBPL	ORPHA:2609
HP:0001639	Hypertrophic cardiomyopathy	29078	NDUFAF4	ORPHA:2609
HP:0001639	Hypertrophic cardiomyopathy	29078	NDUFAF4	OMIM:618237
HP:0001639	Hypertrophic cardiomyopathy	374291	NDUFS7	ORPHA:2609
HP:0001639	Hypertrophic cardiomyopathy	4700	NDUFA6	ORPHA:2609
HP:0001639	Hypertrophic cardiomyopathy	4536	MT-ND2	ORPHA:2609
HP:0001639	Hypertrophic cardiomyopathy	4536	MT-ND2	ORPHA:255210
HP:0001639	Hypertrophic cardiomyopathy	4719	NDUFS1	ORPHA:2609
HP:0001639	Hypertrophic cardiomyopathy	4715	NDUFB9	ORPHA:2609
HP:0001639	Hypertrophic cardiomyopathy	26235	FBXL4	OMIM:615471
HP:0001639	Hypertrophic cardiomyopathy	8216	LZTR1	OMIM:616564
HP:0001639	Hypertrophic cardiomyopathy	8216	LZTR1	OMIM:605275
HP:0001639	Hypertrophic cardiomyopathy	8216	LZTR1	ORPHA:648
HP:0001639	Hypertrophic cardiomyopathy	4574	MT-TS1	OMIM:220110
HP:0001639	Hypertrophic cardiomyopathy	4574	MT-TS1	ORPHA:550
HP:0001639	Hypertrophic cardiomyopathy	4570	MT-TN	OMIM:220110
HP:0001639	Hypertrophic cardiomyopathy	6834	SURF1	OMIM:220110
HP:0001639	Hypertrophic cardiomyopathy	55532	SLC30A10	ORPHA:309854
HP:0001639	Hypertrophic cardiomyopathy	6016	RIT1	OMIM:615355
HP:0001639	Hypertrophic cardiomyopathy	6016	RIT1	ORPHA:648
HP:0001639	Hypertrophic cardiomyopathy	1355	COX15	OMIM:615119
HP:0001639	Hypertrophic cardiomyopathy	5894	RAF1	OMIM:611554
HP:0001639	Hypertrophic cardiomyopathy	5894	RAF1	OMIM:611553
HP:0001639	Hypertrophic cardiomyopathy	5894	RAF1	ORPHA:500
HP:0001639	Hypertrophic cardiomyopathy	5894	RAF1	ORPHA:648
HP:0001639	Hypertrophic cardiomyopathy	673	BRAF	OMIM:115150
HP:0001639	Hypertrophic cardiomyopathy	673	BRAF	ORPHA:1340
HP:0001639	Hypertrophic cardiomyopathy	673	BRAF	ORPHA:500
HP:0001639	Hypertrophic cardiomyopathy	673	BRAF	OMIM:613706
HP:0001639	Hypertrophic cardiomyopathy	673	BRAF	OMIM:163950
HP:0001639	Hypertrophic cardiomyopathy	25821	MTO1	OMIM:614702
HP:0001639	Hypertrophic cardiomyopathy	84334	COA8	ORPHA:436271
HP:0001639	Hypertrophic cardiomyopathy	57176	VARS2	OMIM:615917
HP:0001639	Hypertrophic cardiomyopathy	9690	UBE3C	OMIM:620270
HP:0001639	Hypertrophic cardiomyopathy	4538	MT-ND4	ORPHA:255210
HP:0001639	Hypertrophic cardiomyopathy	4538	MT-ND4	ORPHA:550
HP:0001639	Hypertrophic cardiomyopathy	4567	MT-TL1	ORPHA:255210
HP:0001639	Hypertrophic cardiomyopathy	4567	MT-TL1	ORPHA:550
HP:0001639	Hypertrophic cardiomyopathy	4578	MT-TW	ORPHA:255210
HP:0001639	Hypertrophic cardiomyopathy	4578	MT-TW	ORPHA:550
HP:0001639	Hypertrophic cardiomyopathy	4577	MT-TV	ORPHA:255210
HP:0001639	Hypertrophic cardiomyopathy	4508	MT-ATP6	ORPHA:255210
HP:0001639	Hypertrophic cardiomyopathy	4508	MT-ATP6	ORPHA:254913
HP:0001639	Hypertrophic cardiomyopathy	4540	MT-ND5	ORPHA:255210
HP:0001639	Hypertrophic cardiomyopathy	4540	MT-ND5	ORPHA:550
HP:0001639	Hypertrophic cardiomyopathy	4541	MT-ND6	ORPHA:255210
HP:0001639	Hypertrophic cardiomyopathy	4541	MT-ND6	ORPHA:550
HP:0001639	Hypertrophic cardiomyopathy	4566	MT-TK	ORPHA:255210
HP:0001639	Hypertrophic cardiomyopathy	4566	MT-TK	ORPHA:1349
HP:0001639	Hypertrophic cardiomyopathy	54968	TMEM70	ORPHA:1194
HP:0001639	Hypertrophic cardiomyopathy	54968	TMEM70	OMIM:614052
HP:0001639	Hypertrophic cardiomyopathy	70	ACTC1	OMIM:612098
HP:0001639	Hypertrophic cardiomyopathy	84665	MYPN	OMIM:615248
HP:0001639	Hypertrophic cardiomyopathy	84665	MYPN	ORPHA:75249
HP:0001639	Hypertrophic cardiomyopathy	65082	VPS33A	OMIM:617303
HP:0001639	Hypertrophic cardiomyopathy	65082	VPS33A	ORPHA:505248
HP:0001639	Hypertrophic cardiomyopathy	3764	KCNJ8	ORPHA:1517
HP:0001639	Hypertrophic cardiomyopathy	10060	ABCC9	ORPHA:1517
HP:0001639	Hypertrophic cardiomyopathy	79158	GNPTAB	OMIM:252500
HP:0001639	Hypertrophic cardiomyopathy	1340	COX6B1	OMIM:619051
HP:0001639	Hypertrophic cardiomyopathy	84987	COX14	OMIM:619053
HP:0001639	Hypertrophic cardiomyopathy	2273	FHL1	OMIM:300696
HP:0001639	Hypertrophic cardiomyopathy	2273	FHL1	ORPHA:98863
HP:0001639	Hypertrophic cardiomyopathy	2273	FHL1	OMIM:300280
HP:0001639	Hypertrophic cardiomyopathy	4509	MT-ATP8	ORPHA:254913
HP:0001639	Hypertrophic cardiomyopathy	514	ATP5F1E	ORPHA:254913
HP:0001639	Hypertrophic cardiomyopathy	514	ATP5F1E	OMIM:614053
HP:0001639	Hypertrophic cardiomyopathy	513	ATP5F1D	ORPHA:254913
HP:0001639	Hypertrophic cardiomyopathy	498	ATP5F1A	ORPHA:254913
HP:0001639	Hypertrophic cardiomyopathy	84833	ATP5MK	ORPHA:254913
HP:0001639	Hypertrophic cardiomyopathy	84833	ATP5MK	OMIM:618683
HP:0001639	Hypertrophic cardiomyopathy	91647	ATPAF2	ORPHA:254913
HP:0001639	Hypertrophic cardiomyopathy	1757	SARDH	ORPHA:3129
HP:0001639	Hypertrophic cardiomyopathy	57158	JPH2	OMIM:613873
HP:0001639	Hypertrophic cardiomyopathy	5468	PPARG	ORPHA:79083
HP:0001639	Hypertrophic cardiomyopathy	5468	PPARG	ORPHA:528
HP:0001639	Hypertrophic cardiomyopathy	5350	PLN	OMIM:613874
HP:0001639	Hypertrophic cardiomyopathy	91624	NEXN	OMIM:613876
HP:0001639	Hypertrophic cardiomyopathy	4625	MYH7	OMIM:608358
HP:0001639	Hypertrophic cardiomyopathy	4625	MYH7	OMIM:255160
HP:0001639	Hypertrophic cardiomyopathy	29967	LRP12	OMIM:164310
HP:0001639	Hypertrophic cardiomyopathy	672	BRCA1	ORPHA:84
HP:0001639	Hypertrophic cardiomyopathy	10459	MAD2L2	ORPHA:84
HP:0001639	Hypertrophic cardiomyopathy	7516	XRCC2	ORPHA:84
HP:0001639	Hypertrophic cardiomyopathy	29089	UBE2T	ORPHA:84
HP:0001639	Hypertrophic cardiomyopathy	675	BRCA2	ORPHA:84
HP:0001639	Hypertrophic cardiomyopathy	55120	FANCL	ORPHA:84
HP:0001639	Hypertrophic cardiomyopathy	2177	FANCD2	ORPHA:84
HP:0001639	Hypertrophic cardiomyopathy	2175	FANCA	ORPHA:84
HP:0001639	Hypertrophic cardiomyopathy	2187	FANCB	ORPHA:84
HP:0001639	Hypertrophic cardiomyopathy	2176	FANCC	ORPHA:84
HP:0001639	Hypertrophic cardiomyopathy	2178	FANCE	ORPHA:84
HP:0001639	Hypertrophic cardiomyopathy	2188	FANCF	ORPHA:84
HP:0001639	Hypertrophic cardiomyopathy	2189	FANCG	ORPHA:84
HP:0001639	Hypertrophic cardiomyopathy	5888	RAD51	ORPHA:84
HP:0001639	Hypertrophic cardiomyopathy	5889	RAD51C	ORPHA:84
HP:0001639	Hypertrophic cardiomyopathy	55159	RFWD3	ORPHA:84
HP:0001639	Hypertrophic cardiomyopathy	83990	BRIP1	ORPHA:84
HP:0001639	Hypertrophic cardiomyopathy	57697	FANCM	ORPHA:84
HP:0001639	Hypertrophic cardiomyopathy	79728	PALB2	ORPHA:84
HP:0001639	Hypertrophic cardiomyopathy	84464	SLX4	ORPHA:84
HP:0001639	Hypertrophic cardiomyopathy	2072	ERCC4	ORPHA:84
HP:0001639	Hypertrophic cardiomyopathy	55215	FANCI	ORPHA:84
HP:0001639	Hypertrophic cardiomyopathy	54675	CRLS1	OMIM:620167
HP:0001639	Hypertrophic cardiomyopathy	83550	GPR101	ORPHA:963
HP:0001639	Hypertrophic cardiomyopathy	9049	AIP	ORPHA:963
HP:0001639	Hypertrophic cardiomyopathy	9049	AIP	ORPHA:99725
HP:0001639	Hypertrophic cardiomyopathy	2626	GATA4	ORPHA:251071
HP:0001639	Hypertrophic cardiomyopathy	1717	DHCR7	OMIM:270400
HP:0001639	Hypertrophic cardiomyopathy	7274	TTPA	ORPHA:96
HP:0001639	Hypertrophic cardiomyopathy	203286	ANKS6	OMIM:615382
HP:0001639	Hypertrophic cardiomyopathy	4763	NF1	ORPHA:363700
HP:0001639	Hypertrophic cardiomyopathy	4763	NF1	OMIM:162200
HP:0001639	Hypertrophic cardiomyopathy	4763	NF1	ORPHA:97685
HP:0001639	Hypertrophic cardiomyopathy	4763	NF1	ORPHA:638
HP:0001639	Hypertrophic cardiomyopathy	7386	UQCRFS1	OMIM:618775
HP:0001639	Hypertrophic cardiomyopathy	5500	PPP1CB	ORPHA:2701
HP:0001639	Hypertrophic cardiomyopathy	5500	PPP1CB	OMIM:617506
HP:0001639	Hypertrophic cardiomyopathy	388962	BOLA3	OMIM:614299
HP:0001639	Hypertrophic cardiomyopathy	7273	TTN	OMIM:613765
HP:0001639	Hypertrophic cardiomyopathy	200734	SPRED2	OMIM:619745
HP:0001639	Hypertrophic cardiomyopathy	200734	SPRED2	ORPHA:648
HP:0001639	Hypertrophic cardiomyopathy	28976	ACAD9	ORPHA:99901
HP:0001639	Hypertrophic cardiomyopathy	28976	ACAD9	OMIM:611126
HP:0001639	Hypertrophic cardiomyopathy	3265	HRAS	OMIM:218040
HP:0001639	Hypertrophic cardiomyopathy	3265	HRAS	ORPHA:3071
HP:0001639	Hypertrophic cardiomyopathy	7168	TPM1	OMIM:115196
HP:0001639	Hypertrophic cardiomyopathy	4607	MYBPC3	OMIM:115197
HP:0001639	Hypertrophic cardiomyopathy	65080	MRPL44	OMIM:615395
HP:0001639	Hypertrophic cardiomyopathy	3028	HSD17B10	OMIM:300438
HP:0001639	Hypertrophic cardiomyopathy	3028	HSD17B10	ORPHA:391457
HP:0001639	Hypertrophic cardiomyopathy	3028	HSD17B10	ORPHA:391428
HP:0001639	Hypertrophic cardiomyopathy	51422	PRKAG2	OMIM:600858
HP:0001639	Hypertrophic cardiomyopathy	51422	PRKAG2	OMIM:261740
HP:0001639	Hypertrophic cardiomyopathy	5604	MAP2K1	OMIM:615279
HP:0001639	Hypertrophic cardiomyopathy	5604	MAP2K1	ORPHA:1340
HP:0001639	Hypertrophic cardiomyopathy	5604	MAP2K1	OMIM:163950
HP:0001639	Hypertrophic cardiomyopathy	7139	TNNT2	OMIM:115195
HP:0001639	Hypertrophic cardiomyopathy	7139	TNNT2	ORPHA:75249
HP:0001639	Hypertrophic cardiomyopathy	6804	STX1A	ORPHA:904
HP:0001639	Hypertrophic cardiomyopathy	7461	CLIP2	ORPHA:904
HP:0001639	Hypertrophic cardiomyopathy	84277	DNAJC30	ORPHA:904
HP:0001639	Hypertrophic cardiomyopathy	8468	FKBP6	ORPHA:904
HP:0001639	Hypertrophic cardiomyopathy	5982	RFC2	ORPHA:904
HP:0001639	Hypertrophic cardiomyopathy	2969	GTF2I	ORPHA:904
HP:0001639	Hypertrophic cardiomyopathy	3984	LIMK1	ORPHA:904
HP:0001639	Hypertrophic cardiomyopathy	9569	GTF2IRD1	ORPHA:904
HP:0001639	Hypertrophic cardiomyopathy	155382	VPS37D	ORPHA:904
HP:0001639	Hypertrophic cardiomyopathy	155368	METTL27	ORPHA:904
HP:0001639	Hypertrophic cardiomyopathy	114049	BUD23	ORPHA:904
HP:0001639	Hypertrophic cardiomyopathy	7458	EIF4H	ORPHA:904
HP:0001639	Hypertrophic cardiomyopathy	84163	GTF2IRD2	ORPHA:904
HP:0001639	Hypertrophic cardiomyopathy	26608	TBL2	ORPHA:904
HP:0001639	Hypertrophic cardiomyopathy	653361	NCF1	ORPHA:904
HP:0001639	Hypertrophic cardiomyopathy	135886	TMEM270	ORPHA:904
HP:0001639	Hypertrophic cardiomyopathy	9031	BAZ1B	ORPHA:904
HP:0001639	Hypertrophic cardiomyopathy	2006	ELN	ORPHA:904
HP:0001639	Hypertrophic cardiomyopathy	8557	TCAP	OMIM:607487
HP:0001639	Hypertrophic cardiomyopathy	81031	SLC2A10	ORPHA:3342
HP:0001639	Hypertrophic cardiomyopathy	55210	ATAD3A	ORPHA:496790
HP:0001639	Hypertrophic cardiomyopathy	55210	ATAD3A	OMIM:618810
HP:0001639	Hypertrophic cardiomyopathy	55210	ATAD3A	OMIM:617183
HP:0001639	Hypertrophic cardiomyopathy	2548	GAA	ORPHA:308552
HP:0001639	Hypertrophic cardiomyopathy	27068	PPA2	OMIM:617222
HP:0001639	Hypertrophic cardiomyopathy	4285	MIPEP	OMIM:617228
HP:0001639	Hypertrophic cardiomyopathy	7276	TTR	ORPHA:85451
HP:0001639	Hypertrophic cardiomyopathy	64135	IFIH1	OMIM:615846
HP:0001639	Hypertrophic cardiomyopathy	64135	IFIH1	ORPHA:51
HP:0001639	Hypertrophic cardiomyopathy	6901	TAFAZZIN	OMIM:302060
HP:0001639	Hypertrophic cardiomyopathy	4221	MEN1	ORPHA:99725
HP:0001639	Hypertrophic cardiomyopathy	388015	RTL1	ORPHA:96334
HP:0001639	Hypertrophic cardiomyopathy	8788	DLK1	ORPHA:96334
HP:0001639	Hypertrophic cardiomyopathy	55384	MEG3	ORPHA:96334
HP:0001639	Hypertrophic cardiomyopathy	4000	LMNA	ORPHA:280365
HP:0001639	Hypertrophic cardiomyopathy	4000	LMNA	ORPHA:98853
HP:0001639	Hypertrophic cardiomyopathy	4000	LMNA	ORPHA:2348
HP:0001639	Hypertrophic cardiomyopathy	5373	PMM2	ORPHA:79318
HP:0001639	Hypertrophic cardiomyopathy	2395	FXN	OMIM:229300
HP:0001639	Hypertrophic cardiomyopathy	10661	KLF1	OMIM:613673
HP:0001639	Hypertrophic cardiomyopathy	125988	MICOS13	OMIM:618329
HP:0001639	Hypertrophic cardiomyopathy	6389	SDHA	ORPHA:3208
HP:0001639	Hypertrophic cardiomyopathy	6389	SDHA	OMIM:252011
HP:0001639	Hypertrophic cardiomyopathy	6390	SDHB	ORPHA:3208
HP:0001639	Hypertrophic cardiomyopathy	6392	SDHD	ORPHA:3208
HP:0001639	Hypertrophic cardiomyopathy	644096	SDHAF1	ORPHA:3208
HP:0001639	Hypertrophic cardiomyopathy	2720	GLB1	OMIM:230500
HP:0001639	Hypertrophic cardiomyopathy	54148	MRPL39	OMIM:620646
HP:0001639	Hypertrophic cardiomyopathy	122622	ADSS1	ORPHA:482601
HP:0001639	Hypertrophic cardiomyopathy	2184	FAH	OMIM:276700
HP:0001639	Hypertrophic cardiomyopathy	5836	PYGL	ORPHA:369
HP:0001639	Hypertrophic cardiomyopathy	5837	PYGM	ORPHA:368
HP:0001639	Hypertrophic cardiomyopathy	2010	EMD	ORPHA:98863
HP:0001639	Hypertrophic cardiomyopathy	56246	MRAP	ORPHA:361
HP:0001639	Hypertrophic cardiomyopathy	6770	STAR	ORPHA:361
HP:0001639	Hypertrophic cardiomyopathy	4158	MC2R	ORPHA:361
HP:0001639	Hypertrophic cardiomyopathy	23530	NNT	ORPHA:361
HP:0001639	Hypertrophic cardiomyopathy	10587	TXNRD2	ORPHA:361
HP:0001639	Hypertrophic cardiomyopathy	3845	KRAS	OMIM:600268
HP:0001639	Hypertrophic cardiomyopathy	3845	KRAS	ORPHA:1340
HP:0001639	Hypertrophic cardiomyopathy	3845	KRAS	OMIM:609942
HP:0001639	Hypertrophic cardiomyopathy	3845	KRAS	ORPHA:648
HP:0001639	Hypertrophic cardiomyopathy	57505	AARS2	OMIM:614096
HP:0001639	Hypertrophic cardiomyopathy	5781	PTPN11	OMIM:151100
HP:0001639	Hypertrophic cardiomyopathy	5781	PTPN11	ORPHA:500
HP:0001639	Hypertrophic cardiomyopathy	5781	PTPN11	ORPHA:648
HP:0001639	Hypertrophic cardiomyopathy	5781	PTPN11	OMIM:163950
HP:0001639	Hypertrophic cardiomyopathy	4633	MYL2	OMIM:619424
HP:0001639	Hypertrophic cardiomyopathy	4633	MYL2	OMIM:608758
HP:0001639	Hypertrophic cardiomyopathy	1892	ECHS1	OMIM:616277
HP:0001639	Hypertrophic cardiomyopathy	51117	COQ4	OMIM:616276
HP:0001639	Hypertrophic cardiomyopathy	51067	YARS2	OMIM:613561
HP:0001639	Hypertrophic cardiomyopathy	58497	PRUNE1	ORPHA:544469
HP:0001639	Hypertrophic cardiomyopathy	826	CAPNS1	OMIM:620777
HP:0001639	Hypertrophic cardiomyopathy	7351	UCP2	ORPHA:276556
HP:0001639	Hypertrophic cardiomyopathy	6654	SOS1	OMIM:610733
HP:0001639	Hypertrophic cardiomyopathy	6654	SOS1	ORPHA:648
HP:0001639	Hypertrophic cardiomyopathy	10535	RNASEH2A	ORPHA:51
HP:0001639	Hypertrophic cardiomyopathy	84153	RNASEH2C	ORPHA:51
HP:0001639	Hypertrophic cardiomyopathy	25939	SAMHD1	ORPHA:51
HP:0001639	Hypertrophic cardiomyopathy	79621	RNASEH2B	ORPHA:51
HP:0001639	Hypertrophic cardiomyopathy	103	ADAR	ORPHA:51
HP:0001639	Hypertrophic cardiomyopathy	11277	TREX1	ORPHA:51
HP:0001639	Hypertrophic cardiomyopathy	100147744	RNU7-1	ORPHA:51
HP:0001639	Hypertrophic cardiomyopathy	134353	LSM11	ORPHA:51
HP:0001639	Hypertrophic cardiomyopathy	84705	GTPBP3	ORPHA:444013
HP:0001639	Hypertrophic cardiomyopathy	84705	GTPBP3	OMIM:616198
HP:0001639	Hypertrophic cardiomyopathy	79188	TMEM43	ORPHA:98853
HP:0001639	Hypertrophic cardiomyopathy	23345	SYNE1	ORPHA:98853
HP:0001639	Hypertrophic cardiomyopathy	23224	SYNE2	ORPHA:98853
HP:0001639	Hypertrophic cardiomyopathy	1738	DLD	OMIM:246900
HP:0001639	Hypertrophic cardiomyopathy	4558	MT-TF	ORPHA:550
HP:0001639	Hypertrophic cardiomyopathy	4572	MT-TQ	ORPHA:550
HP:0001639	Hypertrophic cardiomyopathy	4512	MT-CO1	ORPHA:550
HP:0001639	Hypertrophic cardiomyopathy	4513	MT-CO2	ORPHA:550
HP:0001639	Hypertrophic cardiomyopathy	4514	MT-CO3	ORPHA:550
HP:0001639	Hypertrophic cardiomyopathy	4575	MT-TS2	ORPHA:550
HP:0001639	Hypertrophic cardiomyopathy	4564	MT-TH	ORPHA:550
HP:0001639	Hypertrophic cardiomyopathy	7137	TNNI3	OMIM:613690
HP:0001639	Hypertrophic cardiomyopathy	7137	TNNI3	ORPHA:75249
HP:0001639	Hypertrophic cardiomyopathy	3033	HADH	OMIM:231530
HP:0001639	Hypertrophic cardiomyopathy	3033	HADH	ORPHA:71212
HP:0001639	Hypertrophic cardiomyopathy	8048	CSRP3	OMIM:612124
HP:0001639	Hypertrophic cardiomyopathy	5250	SLC25A3	ORPHA:91130
HP:0001639	Hypertrophic cardiomyopathy	5250	SLC25A3	OMIM:610773
HP:0001639	Hypertrophic cardiomyopathy	291	SLC25A4	ORPHA:1369
HP:0001639	Hypertrophic cardiomyopathy	291	SLC25A4	OMIM:615418
HP:0001639	Hypertrophic cardiomyopathy	291	SLC25A4	OMIM:617184
HP:0001639	Hypertrophic cardiomyopathy	26007	TKFC	ORPHA:1369
HP:0001639	Hypertrophic cardiomyopathy	55750	AGK	ORPHA:1369
HP:0001639	Hypertrophic cardiomyopathy	55750	AGK	OMIM:212350
HP:0001639	Hypertrophic cardiomyopathy	56945	MRPS22	OMIM:611719
HP:0001639	Hypertrophic cardiomyopathy	4695	NDUFA2	OMIM:618235
HP:0001639	Hypertrophic cardiomyopathy	4893	NRAS	OMIM:613224
HP:0001639	Hypertrophic cardiomyopathy	4893	NRAS	ORPHA:648
HP:0001639	Hypertrophic cardiomyopathy	6833	ABCC8	ORPHA:276575
HP:0001639	Hypertrophic cardiomyopathy	3920	LAMP2	ORPHA:34587
HP:0001639	Hypertrophic cardiomyopathy	3920	LAMP2	OMIM:300257
HP:0001639	Hypertrophic cardiomyopathy	79068	FTO	OMIM:612938
HP:0001639	Hypertrophic cardiomyopathy	3767	KCNJ11	ORPHA:276580
HP:0001639	Hypertrophic cardiomyopathy	27235	COQ2	OMIM:607426
HP:0001639	Hypertrophic cardiomyopathy	3643	INSR	OMIM:246200
HP:0001639	Hypertrophic cardiomyopathy	3643	INSR	ORPHA:508
HP:0001639	Hypertrophic cardiomyopathy	4705	NDUFA10	OMIM:618243
HP:0001639	Hypertrophic cardiomyopathy	388753	COA6	OMIM:616501
HP:0001639	Hypertrophic cardiomyopathy	493753	COA5	OMIM:616500
HP:0001639	Hypertrophic cardiomyopathy	11080	DNAJB4	OMIM:620326
HP:0001639	Hypertrophic cardiomyopathy	5605	MAP2K2	ORPHA:1340
HP:0001639	Hypertrophic cardiomyopathy	5605	MAP2K2	ORPHA:638
HP:0001639	Hypertrophic cardiomyopathy	284086	NEK8	OMIM:615415
HP:0001639	Hypertrophic cardiomyopathy	4634	MYL3	OMIM:608751
HP:0001639	Hypertrophic cardiomyopathy	2717	GLA	ORPHA:324
HP:0001639	Hypertrophic cardiomyopathy	1349	COX7B	ORPHA:2556
HP:0001639	Hypertrophic cardiomyopathy	3052	HCCS	ORPHA:2556
HP:0001639	Hypertrophic cardiomyopathy	63931	MRPS14	OMIM:618378
HP:0001639	Hypertrophic cardiomyopathy	22808	MRAS	OMIM:618499
HP:0001639	Hypertrophic cardiomyopathy	22808	MRAS	ORPHA:648
HP:0001639	Hypertrophic cardiomyopathy	8802	SUCLG1	ORPHA:17
HP:0001639	Hypertrophic cardiomyopathy	2318	FLNC	OMIM:617047
HP:0001639	Hypertrophic cardiomyopathy	2318	FLNC	ORPHA:75249
HP:0001639	Hypertrophic cardiomyopathy	7289	TULP3	OMIM:619902
HP:0001639	Hypertrophic cardiomyopathy	7134	TNNC1	OMIM:613243
HP:0001639	Hypertrophic cardiomyopathy	88	ACTN2	OMIM:612158
HP:0001639	Hypertrophic cardiomyopathy	128989	TANGO2	OMIM:616878
HP:0001639	Hypertrophic cardiomyopathy	9531	BAG3	OMIM:612954
HP:0001639	Hypertrophic cardiomyopathy	9997	SCO2	OMIM:604377
HP:0001639	Hypertrophic cardiomyopathy	37	ACADVL	OMIM:201475
HP:0001639	Hypertrophic cardiomyopathy	4624	MYH6	OMIM:613251
HP:0001639	Hypertrophic cardiomyopathy	11019	LIAS	OMIM:614462
HP:0001639	Hypertrophic cardiomyopathy	26580	BSCL2	OMIM:269700
HP:0001639	Hypertrophic cardiomyopathy	26580	BSCL2	ORPHA:528
HP:0001639	Hypertrophic cardiomyopathy	11222	MRPL3	OMIM:614582
HP:0001639	Hypertrophic cardiomyopathy	7414	VCL	OMIM:613255
HP:0001639	Hypertrophic cardiomyopathy	7167	TPI1	ORPHA:868
HP:0001639	Hypertrophic cardiomyopathy	10112	KIF20A	ORPHA:75249
HP:0001639	Hypertrophic cardiomyopathy	7040	TGFB1	ORPHA:1328
HP:0001639	Hypertrophic cardiomyopathy	6472	SHMT2	OMIM:619121
HP:0001639	Hypertrophic cardiomyopathy	1674	DES	OMIM:601419
HP:0001639	Hypertrophic cardiomyopathy	60528	ELAC2	OMIM:615440
HP:0001639	Hypertrophic cardiomyopathy	55278	QRSL1	OMIM:618835
HP:0001639	Hypertrophic cardiomyopathy	202018	TAPT1	OMIM:616897
HP:0001639	Hypertrophic cardiomyopathy	4976	OPA1	OMIM:616896
HP:0001639	Hypertrophic cardiomyopathy	57570	TRMT5	OMIM:616539
HP:0001639	Hypertrophic cardiomyopathy	617	BCS1L	OMIM:124000
HP:0001639	Hypertrophic cardiomyopathy	4668	NAGA	ORPHA:79281
HP:0001639	Hypertrophic cardiomyopathy	4668	NAGA	ORPHA:79279
HP:0001639	Hypertrophic cardiomyopathy	51684	SUFU	OMIM:617757
HP:0001639	Hypertrophic cardiomyopathy	22800	RRAS2	ORPHA:648
HP:0001639	Hypertrophic cardiomyopathy	867	CBL	ORPHA:648
HP:0001639	Hypertrophic cardiomyopathy	6237	RRAS	ORPHA:648
HP:0001639	Hypertrophic cardiomyopathy	6655	SOS2	ORPHA:648
HP:0001639	Hypertrophic cardiomyopathy	5922	RASA2	ORPHA:648
HP:0001639	Hypertrophic cardiomyopathy	10555	AGPAT2	ORPHA:528
HP:0001639	Hypertrophic cardiomyopathy	284119	CAVIN1	ORPHA:528
HP:0001639	Hypertrophic cardiomyopathy	2353	FOS	ORPHA:528
HP:0001639	Hypertrophic cardiomyopathy	857	CAV1	ORPHA:528
HP:0001639	Hypertrophic cardiomyopathy	84233	TMEM126A	OMIM:612989
HP:0001639	Hypertrophic cardiomyopathy	51778	MYOZ2	OMIM:613838
HP:0001639	Hypertrophic cardiomyopathy	3030	HADHA	ORPHA:5
HP:0001639	Hypertrophic cardiomyopathy	57538	ALPK3	OMIM:618052
HP:0001639	Hypertrophic cardiomyopathy	129285	PPP1R21	OMIM:619383
HP:0001639	Hypertrophic cardiomyopathy	9054	NFS1	OMIM:619386
HP:0001639	Hypertrophic cardiomyopathy	523	ATP6V1A	OMIM:617403
HP:0001639	Hypertrophic cardiomyopathy	96459	FNIP1	OMIM:619705
HP:0001639	Hypertrophic cardiomyopathy	22868	FASTKD2	OMIM:618855
HP:0001639	Hypertrophic cardiomyopathy	4713	NDUFB7	OMIM:620135
HP:0001639	Hypertrophic cardiomyopathy	6584	SLC22A5	OMIM:212140
HP:0001639	Hypertrophic cardiomyopathy	54800	KLHL24	OMIM:620236
HP:0001639	Hypertrophic cardiomyopathy	6448	SGSH	OMIM:252900
HP:0001639	Hypertrophic cardiomyopathy	138050	HGSNAT	OMIM:252930
HP:0001639	Hypertrophic cardiomyopathy	4669	NAGLU	OMIM:252920
HP:0001639	Hypertrophic cardiomyopathy	859	CAV3	OMIM:192600
HP:0001639	Hypertrophic cardiomyopathy	85366	MYLK2	OMIM:192600
HP:0001639	Hypertrophic cardiomyopathy	2799	GNS	OMIM:252940
HP:0001639	Hypertrophic cardiomyopathy	80206	FHOD3	OMIM:619402
HP:0001639	Hypertrophic cardiomyopathy	1201	CLN3	OMIM:204200
HP:0001639	Hypertrophic cardiomyopathy	10102	TSFM	OMIM:610505
HP:0040014	Increased mitochondrial number	119559	SFXN4	OMIM:615578
HP:0040014	Increased mitochondrial number	100303755	PET117	OMIM:619063
HP:0040014	Increased mitochondrial number	400916	CHCHD10	ORPHA:457050
HP:0040014	Increased mitochondrial number	2992	GYG1	ORPHA:263297
HP:0040017	Protruding coccyx	6872	TAF1	ORPHA:480907
HP:0040017	Protruding coccyx	6872	TAF1	OMIM:300966
HP:0040017	Protruding coccyx	6913	TBX15	OMIM:260660
HP:0040016	Prominent coccyx	6913	TBX15	OMIM:260660
HP:0040016	Prominent coccyx	10584	COLEC10	ORPHA:293843
HP:0040016	Prominent coccyx	5648	MASP1	ORPHA:293843
HP:0040016	Prominent coccyx	78989	COLEC11	ORPHA:293843
HP:0040016	Prominent coccyx	6872	TAF1	OMIM:300966
HP:0040016	Prominent coccyx	285590	SH3PXD2B	OMIM:249420
HP:0040010	Small posterior fossa	22943	DKK1	ORPHA:268882
HP:0040010	Small posterior fossa	4361	MRE11	ORPHA:251347
HP:0040010	Small posterior fossa	129685	TAF8	OMIM:619972
HP:0040010	Small posterior fossa	6658	SOX3	ORPHA:67045
HP:0040013	Decreased mitochondrial number	1763	DNA2	ORPHA:352470
HP:0040013	Decreased mitochondrial number	92667	MGME1	ORPHA:352447
HP:0040012	Chromosome breakage	2188	FANCF	OMIM:603467
HP:0040012	Chromosome breakage	675	BRCA2	OMIM:605724
HP:0040012	Chromosome breakage	2177	FANCD2	OMIM:227646
HP:0040012	Chromosome breakage	1327	COX4I1	OMIM:619060
HP:0040012	Chromosome breakage	2176	FANCC	OMIM:227645
HP:0040012	Chromosome breakage	2178	FANCE	OMIM:600901
HP:0040012	Chromosome breakage	5888	RAD51	OMIM:617244
HP:0040012	Chromosome breakage	2175	FANCA	OMIM:227650
HP:0040012	Chromosome breakage	10459	MAD2L2	OMIM:617243
HP:0040012	Chromosome breakage	55215	FANCI	OMIM:609053
HP:0040012	Chromosome breakage	29089	UBE2T	OMIM:616435
HP:0040012	Chromosome breakage	83990	BRIP1	OMIM:609054
HP:0040012	Chromosome breakage	84464	SLX4	OMIM:613951
HP:0040012	Chromosome breakage	79728	PALB2	OMIM:610832
HP:0040012	Chromosome breakage	64858	DCLRE1B	OMIM:620133
HP:0040012	Chromosome breakage	2332	FMR1	ORPHA:908
HP:0040012	Chromosome breakage	2332	FMR1	OMIM:300624
HP:0040012	Chromosome breakage	84548	TMEM185A	ORPHA:100974
HP:0040012	Chromosome breakage	10111	RAD50	OMIM:613078
HP:0040012	Chromosome breakage	8314	BAP1	ORPHA:2495
HP:0040012	Chromosome breakage	4771	NF2	ORPHA:2495
HP:0040012	Chromosome breakage	6598	SMARCB1	ORPHA:2495
HP:0040012	Chromosome breakage	5155	PDGFB	ORPHA:2495
HP:0040012	Chromosome breakage	84231	TRAF7	ORPHA:2495
HP:0040012	Chromosome breakage	6608	SMO	ORPHA:2495
HP:0040012	Chromosome breakage	207	AKT1	ORPHA:2495
HP:0040012	Chromosome breakage	5290	PIK3CA	ORPHA:2495
HP:0040012	Chromosome breakage	7015	TERT	ORPHA:2495
HP:0040012	Chromosome breakage	51684	SUFU	ORPHA:2495
HP:0040012	Chromosome breakage	6605	SMARCE1	ORPHA:2495
HP:0040012	Chromosome breakage	165918	RNF168	ORPHA:420741
HP:0040012	Chromosome breakage	641	BLM	OMIM:210900
HP:0040012	Chromosome breakage	7516	XRCC2	OMIM:617247
HP:0040012	Chromosome breakage	2072	ERCC4	OMIM:615272
HP:0040012	Chromosome breakage	5889	RAD51C	OMIM:613390
HP:0040012	Chromosome breakage	55120	FANCL	OMIM:614083
HP:0040012	Chromosome breakage	134218	DNAJC21	OMIM:617052
HP:0040012	Chromosome breakage	4173	MCM4	OMIM:609981
HP:0040012	Chromosome breakage	672	BRCA1	OMIM:617883
HP:0004890	Elevated pulmonary artery pressure	94	ACVRL1	OMIM:600376
HP:0004890	Elevated pulmonary artery pressure	94	ACVRL1	ORPHA:774
HP:0004890	Elevated pulmonary artery pressure	4702	NDUFA8	OMIM:619272
HP:0004890	Elevated pulmonary artery pressure	4352	MPL	ORPHA:71493
HP:0004890	Elevated pulmonary artery pressure	7066	THPO	ORPHA:71493
HP:0004890	Elevated pulmonary artery pressure	3717	JAK2	ORPHA:71493
HP:0004890	Elevated pulmonary artery pressure	2294	FOXF1	OMIM:265380
HP:0004890	Elevated pulmonary artery pressure	2294	FOXF1	ORPHA:210122
HP:0004890	Elevated pulmonary artery pressure	4558	MT-TF	ORPHA:550
HP:0004890	Elevated pulmonary artery pressure	4572	MT-TQ	ORPHA:550
HP:0004890	Elevated pulmonary artery pressure	4512	MT-CO1	ORPHA:550
HP:0004890	Elevated pulmonary artery pressure	4513	MT-CO2	ORPHA:550
HP:0004890	Elevated pulmonary artery pressure	4514	MT-CO3	ORPHA:550
HP:0004890	Elevated pulmonary artery pressure	4578	MT-TW	ORPHA:550
HP:0004890	Elevated pulmonary artery pressure	4540	MT-ND5	ORPHA:550
HP:0004890	Elevated pulmonary artery pressure	4541	MT-ND6	ORPHA:550
HP:0004890	Elevated pulmonary artery pressure	4535	MT-ND1	ORPHA:550
HP:0004890	Elevated pulmonary artery pressure	4538	MT-ND4	ORPHA:550
HP:0004890	Elevated pulmonary artery pressure	4567	MT-TL1	ORPHA:550
HP:0004890	Elevated pulmonary artery pressure	4574	MT-TS1	ORPHA:550
HP:0004890	Elevated pulmonary artery pressure	4575	MT-TS2	ORPHA:550
HP:0004890	Elevated pulmonary artery pressure	4564	MT-TH	ORPHA:550
HP:0004890	Elevated pulmonary artery pressure	7428	VHL	OMIM:263400
HP:0004890	Elevated pulmonary artery pressure	79717	PPCS	OMIM:618189
HP:0004890	Elevated pulmonary artery pressure	26235	FBXL4	OMIM:615471
HP:0004890	Elevated pulmonary artery pressure	776	CACNA1D	OMIM:615474
HP:0004890	Elevated pulmonary artery pressure	776	CACNA1D	ORPHA:369929
HP:0004890	Elevated pulmonary artery pressure	498	ATP5F1A	OMIM:616045
HP:0004890	Elevated pulmonary artery pressure	775	CACNA1C	OMIM:620029
HP:0004890	Elevated pulmonary artery pressure	775	CACNA1C	OMIM:601005
HP:0004890	Elevated pulmonary artery pressure	81857	MED25	OMIM:616449
HP:0004890	Elevated pulmonary artery pressure	81857	MED25	ORPHA:464738
HP:0004890	Elevated pulmonary artery pressure	3875	KRT18	OMIM:215600
HP:0004890	Elevated pulmonary artery pressure	8854	ALDH1A2	OMIM:620025
HP:0004890	Elevated pulmonary artery pressure	90459	ERI1	OMIM:620663
HP:0004890	Elevated pulmonary artery pressure	1277	COL1A1	OMIM:259420
HP:0004890	Elevated pulmonary artery pressure	1278	COL1A2	OMIM:259420
HP:0004890	Elevated pulmonary artery pressure	1235	CCR6	ORPHA:220402
HP:0004890	Elevated pulmonary artery pressure	1235	CCR6	ORPHA:220393
HP:0004890	Elevated pulmonary artery pressure	79932	KIAA0319L	ORPHA:220402
HP:0004890	Elevated pulmonary artery pressure	1490	CCN2	ORPHA:220402
HP:0004890	Elevated pulmonary artery pressure	1490	CCN2	ORPHA:220393
HP:0004890	Elevated pulmonary artery pressure	3663	IRF5	ORPHA:220402
HP:0004890	Elevated pulmonary artery pressure	3663	IRF5	ORPHA:220393
HP:0004890	Elevated pulmonary artery pressure	411	ARSB	OMIM:253200
HP:0004890	Elevated pulmonary artery pressure	10312	TCIRG1	ORPHA:667
HP:0004890	Elevated pulmonary artery pressure	1186	CLCN7	ORPHA:667
HP:0004890	Elevated pulmonary artery pressure	29887	SNX10	ORPHA:667
HP:0004890	Elevated pulmonary artery pressure	8600	TNFSF11	ORPHA:667
HP:0004890	Elevated pulmonary artery pressure	27125	AFF4	ORPHA:444077
HP:0004890	Elevated pulmonary artery pressure	4784	NFIX	ORPHA:447980
HP:0004890	Elevated pulmonary artery pressure	4784	NFIX	OMIM:602535
HP:0004890	Elevated pulmonary artery pressure	55315	SLC29A3	OMIM:602782
HP:0004890	Elevated pulmonary artery pressure	1349	COX7B	OMIM:300887
HP:0004890	Elevated pulmonary artery pressure	23395	LARS2	OMIM:617021
HP:0004890	Elevated pulmonary artery pressure	727897	MUC5B	OMIM:178500
HP:0004890	Elevated pulmonary artery pressure	6440	SFTPC	OMIM:178500
HP:0004890	Elevated pulmonary artery pressure	6440	SFTPC	OMIM:610913
HP:0004890	Elevated pulmonary artery pressure	729238	SFTPA2	OMIM:178500
HP:0004890	Elevated pulmonary artery pressure	7015	TERT	OMIM:178500
HP:0004890	Elevated pulmonary artery pressure	51601	LIPT1	OMIM:616299
HP:0004890	Elevated pulmonary artery pressure	30008	EFEMP2	OMIM:614437
HP:0004890	Elevated pulmonary artery pressure	5698	PSMB9	OMIM:620796
HP:0004890	Elevated pulmonary artery pressure	3908	LAMA2	ORPHA:258
HP:0004890	Elevated pulmonary artery pressure	9382	COG1	ORPHA:263508
HP:0004890	Elevated pulmonary artery pressure	6439	SFTPB	OMIM:265120
HP:0004890	Elevated pulmonary artery pressure	6439	SFTPB	ORPHA:217563
HP:0004890	Elevated pulmonary artery pressure	1340	COX6B1	OMIM:619051
HP:0004890	Elevated pulmonary artery pressure	2022	ENG	OMIM:187300
HP:0004890	Elevated pulmonary artery pressure	2022	ENG	ORPHA:774
HP:0004890	Elevated pulmonary artery pressure	65082	VPS33A	ORPHA:505248
HP:0004890	Elevated pulmonary artery pressure	1351	COX8A	OMIM:619059
HP:0004890	Elevated pulmonary artery pressure	50619	DEF6	OMIM:619573
HP:0004890	Elevated pulmonary artery pressure	79572	ATP13A3	OMIM:265400
HP:0004890	Elevated pulmonary artery pressure	8260	NAA10	OMIM:300855
HP:0004890	Elevated pulmonary artery pressure	9469	CHST3	OMIM:143095
HP:0004890	Elevated pulmonary artery pressure	9968	MED12	ORPHA:93932
HP:0004890	Elevated pulmonary artery pressure	92579	G6PC3	OMIM:612541
HP:0004890	Elevated pulmonary artery pressure	56244	BTNL2	OMIM:612387
HP:0004890	Elevated pulmonary artery pressure	2260	FGFR1	ORPHA:2396
HP:0004890	Elevated pulmonary artery pressure	3845	KRAS	ORPHA:2396
HP:0004890	Elevated pulmonary artery pressure	7080	NKX2-1	ORPHA:209905
HP:0004890	Elevated pulmonary artery pressure	55750	AGK	OMIM:212350
HP:0004890	Elevated pulmonary artery pressure	9377	COX5A	OMIM:619064
HP:0004890	Elevated pulmonary artery pressure	9496	TBX4	ORPHA:261279
HP:0004890	Elevated pulmonary artery pressure	9896	FIG4	ORPHA:3472
HP:0004890	Elevated pulmonary artery pressure	9896	FIG4	OMIM:216340
HP:0004890	Elevated pulmonary artery pressure	55697	VAC14	ORPHA:3472
HP:0004890	Elevated pulmonary artery pressure	3977	LIFR	OMIM:601559
HP:0004890	Elevated pulmonary artery pressure	659	BMPR2	OMIM:178600
HP:0004890	Elevated pulmonary artery pressure	659	BMPR2	OMIM:265450
HP:0004890	Elevated pulmonary artery pressure	5826	ABCD4	OMIM:614857
HP:0004890	Elevated pulmonary artery pressure	3425	IDUA	OMIM:607015
HP:0004890	Elevated pulmonary artery pressure	4763	NF1	ORPHA:97685
HP:0004890	Elevated pulmonary artery pressure	760	CA2	ORPHA:2785
HP:0004890	Elevated pulmonary artery pressure	10370	CITED2	ORPHA:99105
HP:0004890	Elevated pulmonary artery pressure	10370	CITED2	ORPHA:99103
HP:0004890	Elevated pulmonary artery pressure	7092	TLL1	ORPHA:99106
HP:0004890	Elevated pulmonary artery pressure	7092	TLL1	ORPHA:99103
HP:0004890	Elevated pulmonary artery pressure	3043	HBB	ORPHA:232
HP:0004890	Elevated pulmonary artery pressure	3043	HBB	ORPHA:231222
HP:0004890	Elevated pulmonary artery pressure	57057	TBX20	ORPHA:99103
HP:0004890	Elevated pulmonary artery pressure	4624	MYH6	ORPHA:99103
HP:0004890	Elevated pulmonary artery pressure	1482	NKX2-5	ORPHA:99103
HP:0004890	Elevated pulmonary artery pressure	70	ACTC1	ORPHA:99103
HP:0004890	Elevated pulmonary artery pressure	2626	GATA4	ORPHA:99103
HP:0004890	Elevated pulmonary artery pressure	2627	GATA6	ORPHA:99103
HP:0004890	Elevated pulmonary artery pressure	2627	GATA6	OMIM:614475
HP:0004890	Elevated pulmonary artery pressure	7840	ALMS1	ORPHA:64
HP:0004890	Elevated pulmonary artery pressure	6772	STAT1	ORPHA:391487
HP:0004890	Elevated pulmonary artery pressure	3572	IL6ST	OMIM:619751
HP:0004890	Elevated pulmonary artery pressure	2261	FGFR3	OMIM:616482
HP:0004890	Elevated pulmonary artery pressure	10664	CTCF	ORPHA:363611
HP:0004890	Elevated pulmonary artery pressure	10526	IPO8	OMIM:619472
HP:0004890	Elevated pulmonary artery pressure	5167	ENPP1	ORPHA:51608
HP:0004890	Elevated pulmonary artery pressure	368	ABCC6	ORPHA:51608
HP:0004890	Elevated pulmonary artery pressure	2200	FBN1	OMIM:614185
HP:0004890	Elevated pulmonary artery pressure	4607	MYBPC3	OMIM:615396
HP:0004890	Elevated pulmonary artery pressure	7414	VCL	OMIM:613255
HP:0004890	Elevated pulmonary artery pressure	29957	SLC25A24	OMIM:612289
HP:0004890	Elevated pulmonary artery pressure	57514	ARHGAP31	OMIM:100300
HP:0004890	Elevated pulmonary artery pressure	57514	ARHGAP31	ORPHA:974
HP:0004890	Elevated pulmonary artery pressure	9719	ADAMTSL2	OMIM:231050
HP:0004890	Elevated pulmonary artery pressure	8085	KMT2D	OMIM:620186
HP:0004890	Elevated pulmonary artery pressure	8085	KMT2D	OMIM:147920
HP:0004890	Elevated pulmonary artery pressure	8517	IKBKG	ORPHA:464
HP:0004890	Elevated pulmonary artery pressure	4000	LMNA	ORPHA:740
HP:0004890	Elevated pulmonary artery pressure	10269	ZMPSTE24	ORPHA:740
HP:0004890	Elevated pulmonary artery pressure	23556	PIGN	ORPHA:280633
HP:0004890	Elevated pulmonary artery pressure	4716	NDUFB10	OMIM:619003
HP:0004890	Elevated pulmonary artery pressure	2629	GBA1	OMIM:230800
HP:0004890	Elevated pulmonary artery pressure	2629	GBA1	ORPHA:2072
HP:0004890	Elevated pulmonary artery pressure	2629	GBA1	ORPHA:77261
HP:0004890	Elevated pulmonary artery pressure	2629	GBA1	ORPHA:77259
HP:0004890	Elevated pulmonary artery pressure	374879	ZNF699	OMIM:619488
HP:0004890	Elevated pulmonary artery pressure	27086	FOXP1	ORPHA:391372
HP:0004890	Elevated pulmonary artery pressure	4256	MGP	ORPHA:85202
HP:0004890	Elevated pulmonary artery pressure	50485	SMARCAL1	ORPHA:1830
HP:0004890	Elevated pulmonary artery pressure	50485	SMARCAL1	OMIM:242900
HP:0004890	Elevated pulmonary artery pressure	8292	COLQ	ORPHA:98915
HP:0004890	Elevated pulmonary artery pressure	3913	LAMB2	ORPHA:98915
HP:0004890	Elevated pulmonary artery pressure	4625	MYH7	OMIM:613426
HP:0004890	Elevated pulmonary artery pressure	388015	RTL1	ORPHA:96334
HP:0004890	Elevated pulmonary artery pressure	8788	DLK1	ORPHA:96334
HP:0004890	Elevated pulmonary artery pressure	55384	MEG3	ORPHA:96334
HP:0004890	Elevated pulmonary artery pressure	10551	AGR2	OMIM:620233
HP:0004890	Elevated pulmonary artery pressure	3516	RBPJ	ORPHA:974
HP:0004890	Elevated pulmonary artery pressure	4851	NOTCH1	ORPHA:974
HP:0004890	Elevated pulmonary artery pressure	4851	NOTCH1	OMIM:616028
HP:0004890	Elevated pulmonary artery pressure	57572	DOCK6	ORPHA:974
HP:0004890	Elevated pulmonary artery pressure	285203	EOGT	ORPHA:974
HP:0004890	Elevated pulmonary artery pressure	54567	DLL4	ORPHA:974
HP:0004890	Elevated pulmonary artery pressure	2658	GDF2	ORPHA:774
HP:0004890	Elevated pulmonary artery pressure	4089	SMAD4	ORPHA:774
HP:0004890	Elevated pulmonary artery pressure	6123	RPL3L	OMIM:619371
HP:0004890	Elevated pulmonary artery pressure	79989	IFT56	OMIM:619534
HP:0004890	Elevated pulmonary artery pressure	8815	BANF1	OMIM:614008
HP:0004890	Elevated pulmonary artery pressure	5236	PGM1	OMIM:614921
HP:0004890	Elevated pulmonary artery pressure	25974	MMACHC	ORPHA:79282
HP:0004890	Elevated pulmonary artery pressure	25974	MMACHC	OMIM:277400
HP:0004890	Elevated pulmonary artery pressure	5557	PRIM1	OMIM:620005
HP:0004890	Elevated pulmonary artery pressure	21	ABCA3	ORPHA:217563
HP:0004890	Elevated pulmonary artery pressure	59	ACTA2	OMIM:613834
HP:0004890	Elevated pulmonary artery pressure	3593	IL12B	ORPHA:3287
HP:0004890	Elevated pulmonary artery pressure	3106	HLA-B	ORPHA:3287
HP:0004890	Elevated pulmonary artery pressure	6945	MLX	ORPHA:3287
HP:0004890	Elevated pulmonary artery pressure	79645	CLXN	OMIM:620642
HP:0004890	Elevated pulmonary artery pressure	64127	NOD2	ORPHA:90340
HP:0004890	Elevated pulmonary artery pressure	55901	THSD1	OMIM:620244
HP:0004890	Elevated pulmonary artery pressure	3339	HSPG2	ORPHA:800
HP:0004890	Elevated pulmonary artery pressure	2542	SLC37A4	OMIM:232240
HP:0004890	Elevated pulmonary artery pressure	6910	TBX5	OMIM:142900
HP:0004890	Elevated pulmonary artery pressure	27247	NFU1	OMIM:605711
HP:0004890	Elevated pulmonary artery pressure	8295	TRRAP	OMIM:618454
HP:0004890	Elevated pulmonary artery pressure	93233	ODAD1	OMIM:615067
HP:0004890	Elevated pulmonary artery pressure	4093	SMAD9	OMIM:615342
HP:0004890	Elevated pulmonary artery pressure	51025	PAM16	OMIM:613320
HP:0004890	Elevated pulmonary artery pressure	2316	FLNA	OMIM:309350
HP:0004890	Elevated pulmonary artery pressure	23590	PDSS1	OMIM:614651
HP:0004890	Elevated pulmonary artery pressure	826	CAPNS1	OMIM:620777
HP:0004890	Elevated pulmonary artery pressure	7319	UBE2A	ORPHA:163956
HP:0004890	Elevated pulmonary artery pressure	54938	SARS2	OMIM:613845
HP:0004890	Elevated pulmonary artery pressure	389827	MYMK	OMIM:254940
HP:0004890	Elevated pulmonary artery pressure	5052	PRDX1	OMIM:277400
HP:0004890	Elevated pulmonary artery pressure	950	SCARB2	ORPHA:77259
HP:0004890	Elevated pulmonary artery pressure	7403	KDM6A	OMIM:147920
HP:0004890	Elevated pulmonary artery pressure	3777	KCNK3	OMIM:615344
HP:0004890	Elevated pulmonary artery pressure	6662	SOX9	ORPHA:718
HP:0004890	Elevated pulmonary artery pressure	440275	EIF2AK4	ORPHA:199241
HP:0004890	Elevated pulmonary artery pressure	144811	LACC1	ORPHA:85414
HP:0004890	Elevated pulmonary artery pressure	4282	MIF	ORPHA:85414
HP:0004890	Elevated pulmonary artery pressure	3123	HLA-DRB1	ORPHA:85414
HP:0004890	Elevated pulmonary artery pressure	3569	IL6	ORPHA:85414
HP:0004890	Elevated pulmonary artery pressure	4629	MYH11	OMIM:619351
HP:0004890	Elevated pulmonary artery pressure	857	CAV1	OMIM:615343
HP:0004891	Recurrent infections due to aspiration	8518	ELP1	OMIM:223900
HP:0004891	Recurrent infections due to aspiration	57731	SPTBN4	OMIM:617519
HP:0004894	Laryngotracheal stenosis	2137	EXTL3	ORPHA:508533
HP:0004894	Laryngotracheal stenosis	2137	EXTL3	OMIM:617425
HP:0004894	Laryngotracheal stenosis	1836	SLC26A2	OMIM:222600
HP:0004894	Laryngotracheal stenosis	4089	SMAD4	OMIM:139210
HP:0004894	Laryngotracheal stenosis	9719	ADAMTSL2	OMIM:231050
HP:0004894	Laryngotracheal stenosis	2317	FLNB	ORPHA:1190
HP:0001942	Metabolic acidosis	83483	PLVAP	OMIM:618183
HP:0001942	Metabolic acidosis	1497	CTNS	OMIM:219800
HP:0001942	Metabolic acidosis	1497	CTNS	ORPHA:411634
HP:0001942	Metabolic acidosis	3155	HMGCL	ORPHA:20
HP:0001942	Metabolic acidosis	3155	HMGCL	OMIM:246450
HP:0001942	Metabolic acidosis	1738	DLD	OMIM:246900
HP:0001942	Metabolic acidosis	5076	PAX2	ORPHA:97362
HP:0001942	Metabolic acidosis	5087	PBX1	ORPHA:97362
HP:0001942	Metabolic acidosis	26235	FBXL4	OMIM:615471
HP:0001942	Metabolic acidosis	374291	NDUFS7	OMIM:618224
HP:0001942	Metabolic acidosis	229	ALDOB	OMIM:229600
HP:0001942	Metabolic acidosis	229	ALDOB	ORPHA:469
HP:0001942	Metabolic acidosis	4723	NDUFV1	OMIM:618225
HP:0001942	Metabolic acidosis	57128	LYRM4	OMIM:615595
HP:0001942	Metabolic acidosis	6809	STX3	ORPHA:2290
HP:0001942	Metabolic acidosis	6809	STX3	OMIM:619445
HP:0001942	Metabolic acidosis	4645	MYO5B	ORPHA:2290
HP:0001942	Metabolic acidosis	79827	CLMP	OMIM:615237
HP:0001942	Metabolic acidosis	763	CA5A	OMIM:615751
HP:0001942	Metabolic acidosis	85476	GFM1	OMIM:609060
HP:0001942	Metabolic acidosis	4719	NDUFS1	OMIM:618226
HP:0001942	Metabolic acidosis	25821	MTO1	OMIM:614702
HP:0001942	Metabolic acidosis	4967	OGDH	OMIM:203740
HP:0001942	Metabolic acidosis	23417	MLYCD	OMIM:248360
HP:0001942	Metabolic acidosis	4720	NDUFS2	OMIM:618228
HP:0001942	Metabolic acidosis	2653	GCSH	OMIM:620423
HP:0001942	Metabolic acidosis	5250	SLC25A3	ORPHA:91130
HP:0001942	Metabolic acidosis	5250	SLC25A3	OMIM:610773
HP:0001942	Metabolic acidosis	3032	HADHB	OMIM:620300
HP:0001942	Metabolic acidosis	132158	GLYCTK	ORPHA:941
HP:0001942	Metabolic acidosis	132158	GLYCTK	OMIM:220120
HP:0001942	Metabolic acidosis	779	CACNA1S	ORPHA:423
HP:0001942	Metabolic acidosis	6261	RYR1	ORPHA:423
HP:0001942	Metabolic acidosis	56945	MRPS22	OMIM:611719
HP:0001942	Metabolic acidosis	3028	HSD17B10	ORPHA:391457
HP:0001942	Metabolic acidosis	3028	HSD17B10	ORPHA:391428
HP:0001942	Metabolic acidosis	3028	HSD17B10	OMIM:300438
HP:0001942	Metabolic acidosis	3712	IVD	ORPHA:33
HP:0001942	Metabolic acidosis	3712	IVD	OMIM:243500
HP:0001942	Metabolic acidosis	9380	GRHPR	OMIM:260000
HP:0001942	Metabolic acidosis	26275	HIBCH	ORPHA:88639
HP:0001942	Metabolic acidosis	6341	SCO1	OMIM:619048
HP:0001942	Metabolic acidosis	23395	LARS2	OMIM:617021
HP:0001942	Metabolic acidosis	51103	NDUFAF1	OMIM:618234
HP:0001942	Metabolic acidosis	4695	NDUFA2	OMIM:618235
HP:0001942	Metabolic acidosis	5160	PDHA1	OMIM:312170
HP:0001942	Metabolic acidosis	1352	COX10	OMIM:619046
HP:0001942	Metabolic acidosis	3141	HLCS	OMIM:253270
HP:0001942	Metabolic acidosis	29078	NDUFAF4	OMIM:618237
HP:0001942	Metabolic acidosis	55163	PNPO	ORPHA:79096
HP:0001942	Metabolic acidosis	55163	PNPO	OMIM:610090
HP:0001942	Metabolic acidosis	3242	HPD	OMIM:140350
HP:0001942	Metabolic acidosis	3242	HPD	ORPHA:2118
HP:0001942	Metabolic acidosis	2710	GK	OMIM:307030
HP:0001942	Metabolic acidosis	58528	RRAGD	OMIM:620152
HP:0001942	Metabolic acidosis	1340	COX6B1	OMIM:619051
HP:0001942	Metabolic acidosis	84987	COX14	OMIM:619053
HP:0001942	Metabolic acidosis	8671	SLC4A4	OMIM:604278
HP:0001942	Metabolic acidosis	54539	NDUFB11	OMIM:301021
HP:0001942	Metabolic acidosis	3938	LCT	OMIM:223000
HP:0001942	Metabolic acidosis	57551	TAOK1	OMIM:619575
HP:0001942	Metabolic acidosis	2937	GSS	OMIM:231900
HP:0001942	Metabolic acidosis	4704	NDUFA9	OMIM:618247
HP:0001942	Metabolic acidosis	34	ACADM	OMIM:201450
HP:0001942	Metabolic acidosis	100131801	PET100	OMIM:619055
HP:0001942	Metabolic acidosis	50619	DEF6	OMIM:619573
HP:0001942	Metabolic acidosis	388753	COA6	OMIM:616501
HP:0001942	Metabolic acidosis	11232	POLG2	OMIM:618528
HP:0001942	Metabolic acidosis	4358	MPV17	OMIM:256810
HP:0001942	Metabolic acidosis	10616	RBCK1	OMIM:615895
HP:0001942	Metabolic acidosis	353	APRT	OMIM:614723
HP:0001942	Metabolic acidosis	64087	MCCC2	OMIM:210210
HP:0001942	Metabolic acidosis	549	AUH	OMIM:250950
HP:0001942	Metabolic acidosis	84693	MCEE	OMIM:251120
HP:0001942	Metabolic acidosis	6821	SUOX	OMIM:272300
HP:0001942	Metabolic acidosis	5095	PCCA	OMIM:606054
HP:0001942	Metabolic acidosis	5096	PCCB	OMIM:606054
HP:0001942	Metabolic acidosis	3158	HMGCS2	OMIM:605911
HP:0001942	Metabolic acidosis	26276	VPS33B	OMIM:208085
HP:0001942	Metabolic acidosis	1594	CYP27B1	OMIM:264700
HP:0001942	Metabolic acidosis	4714	NDUFB8	OMIM:618252
HP:0001942	Metabolic acidosis	4700	NDUFA6	OMIM:618253
HP:0001942	Metabolic acidosis	55065	SLC52A1	OMIM:615026
HP:0001942	Metabolic acidosis	284184	NDUFAF8	OMIM:618776
HP:0001942	Metabolic acidosis	84300	UQCC2	OMIM:615824
HP:0001942	Metabolic acidosis	128989	TANGO2	OMIM:616878
HP:0001942	Metabolic acidosis	63894	VIPAS39	OMIM:613404
HP:0001942	Metabolic acidosis	326625	MMAB	OMIM:251110
HP:0001942	Metabolic acidosis	60386	SLC25A19	ORPHA:99742
HP:0001942	Metabolic acidosis	760	CA2	ORPHA:2785
HP:0001942	Metabolic acidosis	2074	ERCC6	OMIM:214150
HP:0001942	Metabolic acidosis	9997	SCO2	OMIM:604377
HP:0001942	Metabolic acidosis	11212	PLPBP	OMIM:617290
HP:0001942	Metabolic acidosis	6521	SLC4A1	OMIM:611590
HP:0001942	Metabolic acidosis	54914	FOCAD	OMIM:619991
HP:0001942	Metabolic acidosis	11222	MRPL3	OMIM:614582
HP:0001942	Metabolic acidosis	7381	UQCRB	OMIM:615158
HP:0001942	Metabolic acidosis	189	AGXT	OMIM:259900
HP:0001942	Metabolic acidosis	189	AGXT	ORPHA:93598
HP:0001942	Metabolic acidosis	2592	GALT	OMIM:230400
HP:0001942	Metabolic acidosis	4329	ALDH6A1	OMIM:614105
HP:0001942	Metabolic acidosis	10128	LRPPRC	ORPHA:70472
HP:0001942	Metabolic acidosis	2203	FBP1	ORPHA:348
HP:0001942	Metabolic acidosis	2203	FBP1	OMIM:229700
HP:0001942	Metabolic acidosis	166785	MMAA	OMIM:251100
HP:0001942	Metabolic acidosis	6523	SLC5A1	OMIM:606824
HP:0001942	Metabolic acidosis	8050	PDHX	OMIM:245349
HP:0001942	Metabolic acidosis	6340	SCNN1G	ORPHA:171876
HP:0001942	Metabolic acidosis	6340	SCNN1G	OMIM:620126
HP:0001942	Metabolic acidosis	6337	SCNN1A	ORPHA:171876
HP:0001942	Metabolic acidosis	6337	SCNN1A	OMIM:264350
HP:0001942	Metabolic acidosis	6338	SCNN1B	ORPHA:171876
HP:0001942	Metabolic acidosis	6338	SCNN1B	OMIM:620125
HP:0001942	Metabolic acidosis	4716	NDUFB10	OMIM:619003
HP:0001942	Metabolic acidosis	7385	UQCRC2	OMIM:615160
HP:0001942	Metabolic acidosis	2628	GATM	OMIM:134600
HP:0001942	Metabolic acidosis	27068	PPA2	OMIM:617222
HP:0001942	Metabolic acidosis	4306	NR3C2	OMIM:177735
HP:0001942	Metabolic acidosis	28957	MRPS28	OMIM:618958
HP:0001942	Metabolic acidosis	6514	SLC2A2	ORPHA:2088
HP:0001942	Metabolic acidosis	7284	TUFM	OMIM:610678
HP:0001942	Metabolic acidosis	1962	EHHADH	OMIM:615605
HP:0001942	Metabolic acidosis	617	BCS1L	OMIM:124000
HP:0001942	Metabolic acidosis	38	ACAT1	ORPHA:134
HP:0001942	Metabolic acidosis	2271	FH	OMIM:606812
HP:0001942	Metabolic acidosis	7369	UMOD	OMIM:162000
HP:0001942	Metabolic acidosis	79989	IFT56	OMIM:619534
HP:0001942	Metabolic acidosis	200205	IBA57	OMIM:615330
HP:0001942	Metabolic acidosis	3172	HNF4A	OMIM:616026
HP:0001942	Metabolic acidosis	3762	KCNJ5	OMIM:613677
HP:0001942	Metabolic acidosis	25974	MMACHC	ORPHA:79282
HP:0001942	Metabolic acidosis	25974	MMACHC	OMIM:277400
HP:0001942	Metabolic acidosis	2184	FAH	OMIM:276700
HP:0001942	Metabolic acidosis	1807	DPYS	OMIM:222748
HP:0001942	Metabolic acidosis	1376	CPT2	ORPHA:228308
HP:0001942	Metabolic acidosis	2542	SLC37A4	OMIM:232240
HP:0001942	Metabolic acidosis	2639	GCDH	OMIM:231670
HP:0001942	Metabolic acidosis	37	ACADVL	ORPHA:26793
HP:0001942	Metabolic acidosis	50617	ATP6V0A4	OMIM:602722
HP:0001942	Metabolic acidosis	57505	AARS2	OMIM:614096
HP:0001942	Metabolic acidosis	65125	WNK1	OMIM:614492
HP:0001942	Metabolic acidosis	51733	UPB1	OMIM:613161
HP:0001942	Metabolic acidosis	8452	CUL3	OMIM:614496
HP:0001942	Metabolic acidosis	9054	NFS1	OMIM:619386
HP:0001942	Metabolic acidosis	133686	NADK2	OMIM:616034
HP:0001942	Metabolic acidosis	35	ACADS	ORPHA:26792
HP:0001942	Metabolic acidosis	7388	UQCRH	OMIM:620137
HP:0001942	Metabolic acidosis	8942	KYNU	ORPHA:79155
HP:0001942	Metabolic acidosis	5052	PRDX1	OMIM:277400
HP:0001942	Metabolic acidosis	1374	CPT1A	ORPHA:156
HP:0001942	Metabolic acidosis	1374	CPT1A	OMIM:255120
HP:0001942	Metabolic acidosis	525	ATP6V1B1	OMIM:267300
HP:0001942	Metabolic acidosis	9056	SLC7A7	ORPHA:470
HP:0001942	Metabolic acidosis	4567	MT-TL1	ORPHA:324525
HP:0001942	Metabolic acidosis	4567	MT-TL1	ORPHA:480
HP:0001942	Metabolic acidosis	55005	RMND1	OMIM:614922
HP:0001942	Metabolic acidosis	5257	PHKB	ORPHA:79240
HP:0001942	Metabolic acidosis	4853	NOTCH2	OMIM:610205
HP:0001942	Metabolic acidosis	4509	MT-ATP8	ORPHA:480
HP:0001942	Metabolic acidosis	50484	RRM2B	ORPHA:480
HP:0001942	Metabolic acidosis	5256	PHKA2	ORPHA:264580
HP:0001942	Metabolic acidosis	5261	PHKG2	ORPHA:264580
HP:0001942	Metabolic acidosis	790	CAD	OMIM:616457
HP:0001942	Metabolic acidosis	182	JAG1	OMIM:118450
HP:0001942	Metabolic acidosis	57724	EPG5	ORPHA:1493
HP:0001942	Metabolic acidosis	1188	CLCNKB	ORPHA:358
HP:0001942	Metabolic acidosis	6559	SLC12A3	ORPHA:358
HP:0001942	Metabolic acidosis	5442	POLRMT	OMIM:619743
HP:0001942	Metabolic acidosis	4574	MT-TS1	OMIM:220110
HP:0001942	Metabolic acidosis	4570	MT-TN	OMIM:220110
HP:0001942	Metabolic acidosis	6834	SURF1	OMIM:220110
HP:0001942	Metabolic acidosis	84334	COA8	ORPHA:436271
HP:0001942	Metabolic acidosis	6928	HNF1B	ORPHA:93111
HP:0001942	Metabolic acidosis	4952	OCRL	OMIM:309000
HP:0001942	Metabolic acidosis	5277	PIGA	ORPHA:447
HP:0001942	Metabolic acidosis	2625	GATA3	OMIM:146255
HP:0001942	Metabolic acidosis	5091	PC	OMIM:266150
HP:0001942	Metabolic acidosis	56922	MCCC1	OMIM:210200
HP:0001942	Metabolic acidosis	27247	NFU1	OMIM:605711
HP:0001942	Metabolic acidosis	4594	MMUT	OMIM:251000
HP:0001942	Metabolic acidosis	65266	WNK4	OMIM:614491
HP:0001942	Metabolic acidosis	26249	KLHL3	OMIM:614495
HP:0001942	Metabolic acidosis	50674	NEUROG3	OMIM:610370
HP:0001942	Metabolic acidosis	50674	NEUROG3	ORPHA:83620
HP:0001942	Metabolic acidosis	137682	NDUFAF6	OMIM:618913
HP:0001942	Metabolic acidosis	137682	NDUFAF6	ORPHA:3337
HP:0001942	Metabolic acidosis	6569	SLC34A1	ORPHA:3337
HP:0001942	Metabolic acidosis	27130	INVS	OMIM:602088
HP:0001942	Metabolic acidosis	686	BTD	OMIM:253260
HP:0001942	Metabolic acidosis	686	BTD	ORPHA:79241
HP:0001942	Metabolic acidosis	1537	CYC1	OMIM:615453
HP:0001942	Metabolic acidosis	10686	CLDN16	OMIM:248250
HP:0002047	Malignant hyperthermia	487	ATP2A1	OMIM:601003
HP:0002047	Malignant hyperthermia	6261	RYR1	ORPHA:597
HP:0002047	Malignant hyperthermia	6261	RYR1	ORPHA:466650
HP:0002047	Malignant hyperthermia	6261	RYR1	ORPHA:169189
HP:0002047	Malignant hyperthermia	6261	RYR1	ORPHA:423
HP:0002047	Malignant hyperthermia	6261	RYR1	ORPHA:424107
HP:0002047	Malignant hyperthermia	6261	RYR1	OMIM:619542
HP:0002047	Malignant hyperthermia	6261	RYR1	OMIM:117000
HP:0002047	Malignant hyperthermia	6261	RYR1	OMIM:145600
HP:0002047	Malignant hyperthermia	9997	SCO2	OMIM:604377
HP:0002047	Malignant hyperthermia	779	CACNA1S	OMIM:601887
HP:0002047	Malignant hyperthermia	779	CACNA1S	ORPHA:423
HP:0002047	Malignant hyperthermia	4621	MYH3	ORPHA:2053
HP:0002047	Malignant hyperthermia	4621	MYH3	OMIM:193700
HP:0002047	Malignant hyperthermia	259232	NALCN	ORPHA:2053
HP:0002047	Malignant hyperthermia	8518	ELP1	ORPHA:1764
HP:0002047	Malignant hyperthermia	5236	PGM1	OMIM:614921
HP:0002047	Malignant hyperthermia	3339	HSPG2	OMIM:255800
HP:0002047	Malignant hyperthermia	3339	HSPG2	ORPHA:800
HP:0002047	Malignant hyperthermia	6331	SCN5A	OMIM:272120
HP:0002047	Malignant hyperthermia	246329	STAC3	ORPHA:168572
HP:0002047	Malignant hyperthermia	246329	STAC3	OMIM:255995
HP:0002047	Malignant hyperthermia	274	BIN1	ORPHA:169189
HP:0002047	Malignant hyperthermia	64419	MTMR14	ORPHA:169189
HP:0002047	Malignant hyperthermia	4618	MYF6	ORPHA:169189
HP:0002047	Malignant hyperthermia	1785	DNM2	ORPHA:169189
HP:0002047	Malignant hyperthermia	23529	CLCF1	ORPHA:1545
HP:0002047	Malignant hyperthermia	9244	CRLF1	ORPHA:1545
HP:0002047	Malignant hyperthermia	6329	SCN4A	ORPHA:682
HP:0002047	Malignant hyperthermia	83696	TRAPPC9	ORPHA:352530
HP:0002047	Malignant hyperthermia	1134	CHRNA1	OMIM:253290
HP:0002047	Malignant hyperthermia	1146	CHRNG	OMIM:253290
HP:0002047	Malignant hyperthermia	1144	CHRND	OMIM:253290
HP:0002047	Malignant hyperthermia	26154	ABCA12	ORPHA:457
HP:0002047	Malignant hyperthermia	7189	TRAF6	ORPHA:1810
HP:0002047	Malignant hyperthermia	128178	EDARADD	ORPHA:1810
HP:0002047	Malignant hyperthermia	126695	KDF1	ORPHA:1810
HP:0002047	Malignant hyperthermia	10913	EDAR	ORPHA:1810
HP:0004897	Stress/infection-induced lactic acidosis	133686	NADK2	ORPHA:431361
HP:0004897	Stress/infection-induced lactic acidosis	7386	UQCRFS1	OMIM:618775
HP:0004897	Stress/infection-induced lactic acidosis	6389	SDHA	OMIM:252011
HP:0004898	Persistent lactic acidosis	10128	LRPPRC	OMIM:220111
HP:0004925	Chronic lactic acidosis	617	BCS1L	OMIM:603358
HP:0004925	Chronic lactic acidosis	5160	PDHA1	OMIM:312170
HP:0040019	Finger clinodactyly	11253	MAN1B1	ORPHA:397941
HP:0040019	Finger clinodactyly	11253	MAN1B1	OMIM:614202
HP:0040019	Finger clinodactyly	340533	NEXMIF	OMIM:300912
HP:0040019	Finger clinodactyly	1139	CHRNA7	ORPHA:199318
HP:0040019	Finger clinodactyly	1139	CHRNA7	OMIM:612001
HP:0040019	Finger clinodactyly	2132	EXT2	OMIM:616682
HP:0040019	Finger clinodactyly	23135	KDM6B	OMIM:618505
HP:0040019	Finger clinodactyly	6659	SOX4	OMIM:618506
HP:0040019	Finger clinodactyly	1947	EFNB1	ORPHA:1520
HP:0040019	Finger clinodactyly	1947	EFNB1	OMIM:304110
HP:0040019	Finger clinodactyly	4010	LMX1B	ORPHA:2614
HP:0040019	Finger clinodactyly	4010	LMX1B	OMIM:161200
HP:0040019	Finger clinodactyly	10054	UBA2	OMIM:619959
HP:0040019	Finger clinodactyly	51126	NAA20	OMIM:619717
HP:0040019	Finger clinodactyly	2972	BRF1	OMIM:616202
HP:0040019	Finger clinodactyly	2263	FGFR2	OMIM:149730
HP:0040019	Finger clinodactyly	2263	FGFR2	OMIM:101400
HP:0040019	Finger clinodactyly	2263	FGFR2	ORPHA:794
HP:0040019	Finger clinodactyly	9820	CUL7	ORPHA:2616
HP:0040019	Finger clinodactyly	9820	CUL7	OMIM:273750
HP:0040019	Finger clinodactyly	23363	OBSL1	ORPHA:2616
HP:0040019	Finger clinodactyly	83987	CCDC8	ORPHA:2616
HP:0040019	Finger clinodactyly	83987	CCDC8	OMIM:614205
HP:0040019	Finger clinodactyly	7021	TFAP2B	OMIM:169100
HP:0040019	Finger clinodactyly	7021	TFAP2B	ORPHA:46627
HP:0040019	Finger clinodactyly	7021	TFAP2B	OMIM:617035
HP:0040019	Finger clinodactyly	5927	KDM5A	OMIM:620820
HP:0040019	Finger clinodactyly	3481	IGF2	ORPHA:231140
HP:0040019	Finger clinodactyly	3481	IGF2	ORPHA:231144
HP:0040019	Finger clinodactyly	3481	IGF2	OMIM:616489
HP:0040019	Finger clinodactyly	3481	IGF2	OMIM:180860
HP:0040019	Finger clinodactyly	3481	IGF2	ORPHA:397590
HP:0040019	Finger clinodactyly	283120	H19	ORPHA:231140
HP:0040019	Finger clinodactyly	283120	H19	ORPHA:231144
HP:0040019	Finger clinodactyly	197131	UBR1	OMIM:243800
HP:0040019	Finger clinodactyly	5932	RBBP8	OMIM:606744
HP:0040019	Finger clinodactyly	5932	RBBP8	ORPHA:808
HP:0040019	Finger clinodactyly	3021	H3-3B	OMIM:619721
HP:0040019	Finger clinodactyly	4286	MITF	OMIM:617306
HP:0040019	Finger clinodactyly	23384	SPECC1L	ORPHA:1519
HP:0040019	Finger clinodactyly	57539	WDR35	ORPHA:1515
HP:0040019	Finger clinodactyly	112752	IFT43	ORPHA:1515
HP:0040019	Finger clinodactyly	51098	IFT52	ORPHA:1515
HP:0040019	Finger clinodactyly	55764	IFT122	ORPHA:1515
HP:0040019	Finger clinodactyly	57728	WDR19	ORPHA:1515
HP:0040019	Finger clinodactyly	55636	CHD7	ORPHA:138
HP:0040019	Finger clinodactyly	9723	SEMA3E	ORPHA:138
HP:0040019	Finger clinodactyly	90	ACVR1	OMIM:135100
HP:0040019	Finger clinodactyly	3190	HNRNPK	OMIM:616580
HP:0040019	Finger clinodactyly	25885	POLR1A	OMIM:616462
HP:0040019	Finger clinodactyly	54880	BCOR	ORPHA:2712
HP:0040019	Finger clinodactyly	54880	BCOR	ORPHA:568
HP:0040019	Finger clinodactyly	10606	PAICS	OMIM:619859
HP:0040019	Finger clinodactyly	1009	CDH11	OMIM:619736
HP:0040019	Finger clinodactyly	64359	NXN	ORPHA:1507
HP:0040019	Finger clinodactyly	4920	ROR2	ORPHA:1507
HP:0040019	Finger clinodactyly	2697	GJA1	ORPHA:2710
HP:0040019	Finger clinodactyly	7020	TFAP2A	OMIM:113620
HP:0040019	Finger clinodactyly	727857	BHLHA9	ORPHA:157801
HP:0040019	Finger clinodactyly	727857	BHLHA9	OMIM:609432
HP:0040019	Finger clinodactyly	652	BMP4	OMIM:607932
HP:0040019	Finger clinodactyly	4297	KMT2A	ORPHA:319182
HP:0040019	Finger clinodactyly	4297	KMT2A	OMIM:605130
HP:0040019	Finger clinodactyly	1301	COL11A1	OMIM:228520
HP:0040019	Finger clinodactyly	1301	COL11A1	OMIM:154780
HP:0040019	Finger clinodactyly	23327	NEDD4L	OMIM:617201
HP:0040019	Finger clinodactyly	7291	TWIST1	OMIM:101400
HP:0040019	Finger clinodactyly	7291	TWIST1	ORPHA:794
HP:0040019	Finger clinodactyly	2783	GNB2	OMIM:619503
HP:0040019	Finger clinodactyly	3981	LIG4	ORPHA:235
HP:0040019	Finger clinodactyly	3981	LIG4	ORPHA:99812
HP:0040019	Finger clinodactyly	3981	LIG4	OMIM:606593
HP:0040019	Finger clinodactyly	54888	NSUN2	ORPHA:235
HP:0040019	Finger clinodactyly	1182	CLCN3	OMIM:619512
HP:0040019	Finger clinodactyly	85301	COL27A1	OMIM:615155
HP:0040019	Finger clinodactyly	57680	CHD8	OMIM:615032
HP:0040019	Finger clinodactyly	5048	PAFAH1B1	ORPHA:217385
HP:0040019	Finger clinodactyly	5048	PAFAH1B1	ORPHA:531
HP:0040019	Finger clinodactyly	7531	YWHAE	ORPHA:217385
HP:0040019	Finger clinodactyly	7531	YWHAE	ORPHA:531
HP:0040019	Finger clinodactyly	132884	EVC2	OMIM:193530
HP:0040019	Finger clinodactyly	132884	EVC2	ORPHA:952
HP:0040019	Finger clinodactyly	2121	EVC	OMIM:193530
HP:0040019	Finger clinodactyly	2121	EVC	ORPHA:952
HP:0040019	Finger clinodactyly	2550	GABBR1	OMIM:620502
HP:0040019	Finger clinodactyly	8364	H4C3	OMIM:619758
HP:0040019	Finger clinodactyly	5590	PRKCZ	ORPHA:1606
HP:0040019	Finger clinodactyly	2563	GABRD	ORPHA:1606
HP:0040019	Finger clinodactyly	23013	SPEN	ORPHA:1606
HP:0040019	Finger clinodactyly	8510	MMP23B	ORPHA:1606
HP:0040019	Finger clinodactyly	7798	LUZP1	ORPHA:1606
HP:0040019	Finger clinodactyly	6497	SKI	ORPHA:1606
HP:0040019	Finger clinodactyly	10630	PDPN	ORPHA:1606
HP:0040019	Finger clinodactyly	3339	HSPG2	ORPHA:1606
HP:0040019	Finger clinodactyly	10277	UBE4B	ORPHA:1606
HP:0040019	Finger clinodactyly	8514	KCNAB2	ORPHA:1606
HP:0040019	Finger clinodactyly	473	RERE	ORPHA:1606
HP:0040019	Finger clinodactyly	473	RERE	OMIM:616975
HP:0040019	Finger clinodactyly	63976	PRDM16	ORPHA:1606
HP:0040019	Finger clinodactyly	54897	CASZ1	ORPHA:1606
HP:0040019	Finger clinodactyly	6134	RPL10	ORPHA:459070
HP:0040019	Finger clinodactyly	6134	RPL10	OMIM:300998
HP:0040019	Finger clinodactyly	7750	ZMYM2	OMIM:619522
HP:0040019	Finger clinodactyly	4849	CNOT3	OMIM:618672
HP:0040019	Finger clinodactyly	6942	TCF20	OMIM:618430
HP:0040019	Finger clinodactyly	641	BLM	OMIM:210900
HP:0040019	Finger clinodactyly	57492	ARID1B	ORPHA:251056
HP:0040019	Finger clinodactyly	57492	ARID1B	OMIM:135900
HP:0040019	Finger clinodactyly	63895	PIEZO2	ORPHA:376
HP:0040019	Finger clinodactyly	23314	SATB2	ORPHA:576283
HP:0040019	Finger clinodactyly	23314	SATB2	ORPHA:251028
HP:0040019	Finger clinodactyly	23314	SATB2	ORPHA:251019
HP:0040019	Finger clinodactyly	2239	GPC4	ORPHA:373
HP:0040019	Finger clinodactyly	2239	GPC4	ORPHA:2662
HP:0040019	Finger clinodactyly	2719	GPC3	ORPHA:373
HP:0040019	Finger clinodactyly	23162	MAPK8IP3	OMIM:618443
HP:0040019	Finger clinodactyly	23483	TGDS	OMIM:616145
HP:0040019	Finger clinodactyly	23483	TGDS	ORPHA:1388
HP:0040019	Finger clinodactyly	57479	PRR12	OMIM:619539
HP:0040019	Finger clinodactyly	25836	NIPBL	OMIM:122470
HP:0040019	Finger clinodactyly	25836	NIPBL	ORPHA:199
HP:0040019	Finger clinodactyly	2317	FLNB	OMIM:272460
HP:0040019	Finger clinodactyly	79087	ALG12	ORPHA:79324
HP:0040019	Finger clinodactyly	6473	SHOX	ORPHA:240
HP:0040019	Finger clinodactyly	1387	CREBBP	OMIM:618332
HP:0040019	Finger clinodactyly	1387	CREBBP	OMIM:180849
HP:0040019	Finger clinodactyly	1387	CREBBP	ORPHA:592574
HP:0040019	Finger clinodactyly	26100	WIPI2	OMIM:618453
HP:0040019	Finger clinodactyly	10533	ATG7	OMIM:619422
HP:0040019	Finger clinodactyly	8295	TRRAP	OMIM:618454
HP:0040019	Finger clinodactyly	9742	IFT140	OMIM:266920
HP:0040019	Finger clinodactyly	7227	TRPS1	ORPHA:77258
HP:0040019	Finger clinodactyly	2261	FGFR3	ORPHA:794
HP:0040019	Finger clinodactyly	9949	AMMECR1	OMIM:300990
HP:0040019	Finger clinodactyly	3479	IGF1	ORPHA:73272
HP:0040019	Finger clinodactyly	3479	IGF1	OMIM:608747
HP:0040019	Finger clinodactyly	658	BMPR1B	OMIM:112600
HP:0040019	Finger clinodactyly	658	BMPR1B	ORPHA:93396
HP:0040019	Finger clinodactyly	658	BMPR1B	ORPHA:93384
HP:0040019	Finger clinodactyly	658	BMPR1B	ORPHA:93388
HP:0040019	Finger clinodactyly	658	BMPR1B	OMIM:616849
HP:0040019	Finger clinodactyly	650	BMP2	OMIM:112600
HP:0040019	Finger clinodactyly	650	BMP2	ORPHA:93396
HP:0040019	Finger clinodactyly	650	BMP2	OMIM:617877
HP:0040019	Finger clinodactyly	6477	SIAH1	OMIM:619314
HP:0040019	Finger clinodactyly	8473	OGT	OMIM:300997
HP:0040019	Finger clinodactyly	10785	WDR4	OMIM:618347
HP:0040019	Finger clinodactyly	1798	DPAGT1	OMIM:608093
HP:0040019	Finger clinodactyly	100151683	RNU4ATAC	ORPHA:353298
HP:0040019	Finger clinodactyly	100151683	RNU4ATAC	OMIM:226960
HP:0040019	Finger clinodactyly	100151683	RNU4ATAC	OMIM:616651
HP:0040019	Finger clinodactyly	100151683	RNU4ATAC	ORPHA:2636
HP:0040019	Finger clinodactyly	170689	ADAMTS15	OMIM:620545
HP:0040019	Finger clinodactyly	253738	EBF3	ORPHA:96148
HP:0040019	Finger clinodactyly	90459	ERI1	OMIM:620663
HP:0040019	Finger clinodactyly	90459	ERI1	OMIM:620662
HP:0040019	Finger clinodactyly	4076	CAPRIN1	OMIM:620782
HP:0040019	Finger clinodactyly	55869	HDAC8	OMIM:300882
HP:0040019	Finger clinodactyly	55869	HDAC8	ORPHA:199
HP:0040019	Finger clinodactyly	117581	TWIST2	OMIM:200110
HP:0040019	Finger clinodactyly	117581	TWIST2	OMIM:209885
HP:0040019	Finger clinodactyly	23030	KDM4B	OMIM:619320
HP:0040019	Finger clinodactyly	9126	SMC3	OMIM:610759
HP:0040019	Finger clinodactyly	9126	SMC3	ORPHA:199
HP:0040019	Finger clinodactyly	1725	DHPS	OMIM:618480
HP:0040019	Finger clinodactyly	55777	MBD5	OMIM:156200
HP:0040019	Finger clinodactyly	55777	MBD5	ORPHA:228402
HP:0040019	Finger clinodactyly	5980	REV3L	ORPHA:570
HP:0040019	Finger clinodactyly	23129	PLXND1	ORPHA:570
HP:0040019	Finger clinodactyly	4784	NFIX	OMIM:602535
HP:0040019	Finger clinodactyly	4998	ORC1	OMIM:224690
HP:0040019	Finger clinodactyly	4998	ORC1	ORPHA:2554
HP:0040019	Finger clinodactyly	4052	LTBP1	OMIM:619451
HP:0040019	Finger clinodactyly	8260	NAA10	OMIM:300855
HP:0040019	Finger clinodactyly	8260	NAA10	ORPHA:568
HP:0040019	Finger clinodactyly	7468	NSD2	OMIM:619695
HP:0040019	Finger clinodactyly	23476	BRD4	OMIM:620568
HP:0040019	Finger clinodactyly	23476	BRD4	ORPHA:199
HP:0040019	Finger clinodactyly	9496	TBX4	ORPHA:261279
HP:0040019	Finger clinodactyly	8091	HMGA2	ORPHA:94063
HP:0040019	Finger clinodactyly	8091	HMGA2	ORPHA:397590
HP:0040019	Finger clinodactyly	23592	LEMD3	ORPHA:94063
HP:0040019	Finger clinodactyly	164	AP1G1	OMIM:619467
HP:0040019	Finger clinodactyly	5283	PIGH	OMIM:618010
HP:0040019	Finger clinodactyly	51715	RAB23	ORPHA:65759
HP:0040019	Finger clinodactyly	51715	RAB23	OMIM:201000
HP:0040019	Finger clinodactyly	1954	MEGF8	ORPHA:65759
HP:0040019	Finger clinodactyly	1954	MEGF8	OMIM:614976
HP:0040019	Finger clinodactyly	6874	TAF4	OMIM:620450
HP:0040019	Finger clinodactyly	50801	KCNK4	OMIM:618381
HP:0040019	Finger clinodactyly	9757	KMT2B	ORPHA:589618
HP:0040019	Finger clinodactyly	4613	MYCN	ORPHA:391641
HP:0040019	Finger clinodactyly	57003	CCDC47	OMIM:618268
HP:0040019	Finger clinodactyly	8812	CCNK	OMIM:618147
HP:0040019	Finger clinodactyly	5977	DPF2	OMIM:618027
HP:0040019	Finger clinodactyly	29895	MYL11	OMIM:619110
HP:0040019	Finger clinodactyly	94005	PIGS	OMIM:618143
HP:0040019	Finger clinodactyly	145173	B3GLCT	OMIM:261540
HP:0040019	Finger clinodactyly	145173	B3GLCT	ORPHA:709
HP:0040019	Finger clinodactyly	2033	EP300	OMIM:180849
HP:0040019	Finger clinodactyly	92002	CCNQ	OMIM:300707
HP:0040019	Finger cli